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 1602631 7A5 putative binding protein 7a5 8889548 346389 NM_182762,AC005083,AC007001,CH236948,CH471073,AF086401,AJ313524,AK128850,AK131400,AL359055,BC137090,CB240872 NP_877439,EAL24276,EAW93719,CAC86408,BAC87646,BAD18547,AAI37091,Q6ZN28 Hs.598388 protein-coding 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. 1580863 3458201,16335952,15489334,15461460,15221005,14760718,14702039,12477932,8889549,3610142,2591067 1 NM_130786,AC010642,AC012313,CH471135,AA484435,AB073611,AF414429,AI022193,AK055885,AK056201,AK124712,AK289417,BC035719,BX325198,BX537419,CR603363,CR604603,CR609084,CR612720,CR614062,T80683,W25099 NP_570602,EAW72575,BAD38648,AAL07469,BAF82106,AAH35719,CAD97661,P04217,Q68CK0,Q7Z3U3 Hs.529161,Hs.705518 GDB:119638 A1B|ABG|DKFZp686F0970|GAB|HYST2477 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. 1300341,1300239 11871661,10669759,12896982,12881431,10781591,16055734,15164054,15148397,14702039,12477932,11815617,11752456,11718896,11577082,11571303,11352648,11329013,11134005,11072063,10833526 1300341,1300239 29974 NM_138933,NM_138932,NM_014576,AL512366,AL589794,CH471083,AF209192,AF271789,AF271790,AJ272078,AJ272079,AK000324,AK291982,BC022263,BC054873,BC130519,BG188383 NP_620311,NP_620310,NP_055391,CAI14233,CAI14234,CAI14235,CAI14236,CAI15762,CAI15763,CAI15764,EAW54133,EAW54134,EAW54135,EAW54136,EAW54137,EAW54138,AAF34824,AAF76221,AAF76222,CAB94754,CAB94755,BAA91086,BAF84671,AAH54873,AAI30520,Q5T0W7,Q7Z2U9,Q9NQ94 Hs.499643 ACF|ACF64|ACF65|APOBEC1CF|ASP|MGC163391|RP11-564C4.2 apobec-1 complementation factor, apobec-1 stimulating protein protein-coding 1603854 A26A1 ANKRD26-like family A, member 1 15276201 340441 NM_001005365,NM_001002920,AC022616,AY462869,AY462870 NP_001005365,NP_001002920,AAS58863,AAS58864,Q495V5,Q6S8J7,AAI48509,AAI53077 Hs.531579 POTE-8|POTE8 protein-coding 1604173 A26B1 ANKRD26-like family B, member 1 15489334,15276201,12477932,12475935 339010 NM_207355,AC060814,AY465170,AY465173,BC066981,BC101005,BC101006,BC101007,BC127123 NP_997238,AAS58869,AAS58872,AAH66981,AAI01006,AAI01007,AAI01008,AAI27124,Q495V6,Q495V7,Q6S5H4 Hs.558766 MGC119371|MGC119373|POTE-15|POTE15 protein-coding 2291751 A26B2 ANKRD26-like family B, member 2 12475935 388468 XM_496269,AP006261,BX649118 XP_496269 Hs.454726 DKFZp686J0529|POTE-18|POTE18 protein-coding 1353593 A26B3 ANKRD26-like family B, member 3 1580863 17996727,16364570,15276201,12475935,10830953 317754 NM_174981,AP001465,AY172978 NP_778146,AAO23914,Q86YR6,AAI66701 Hs.442712 ANKRD21|POTE|POTE-21|POTE21 ankyrin repeat domain 21 protein-coding 1604415 A26C1A ANKRD26-like family C, member 1A 17101985,16364570,15276201 445582 NM_001083538,AC131180,AY462868,AY462871,AY462872,AY462873 NP_001077007,AAS58862,AAS58865,AAS58866,AAS58867,Q6S8J3,AAI46283 Hs.686146 A26C1|POTE-2|POTE2 protein-coding 2289881 A26C1B ANKRD26-like family C, member 1B 17101985,15815621 728378 NM_001099771,AC018804,AC018865,EF523384 NP_001093241,ABP57734,A5A3E0 Hs.580547,Hs.686146 POTEACTIN protein-coding 1605777 A26C2 ANKRD26-like family C, member 2 16824795,15276201,12477932,10737800 404785 NM_001005356,AL512624,AY970432,AY462874,AY465171,AY465172,BC127623,BU584045,CD358418,CV341500 NP_001005356,AAX82241,AAS58868,AAS58870,AAS58871,AAI27624,A6NMI9,Q562T0,Q6S5H5,AAI56490 Hs.581075,Hs.684914 ACTBL1|POTE-14|POTE14|POTE22 protein-coding 1346397 A26C3 ANKRD26-like family C, member 3 15276201,12475935,10591208 23784 NM_001004053,AP000529,CR545463,AY466021 NP_001004053,CAM28350,AAS58873,Q6S545,AAI48506,AAI48759 Hs.684914 GDB:10795278 ACTBL1|POTE22 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. Four alternatively spliced transcript variants have been found for this gene. Additional transcript variants have been found but their full length nature has not been determined. 10814712,17503474,17101796,16713569,16537540,16362037,16260614,14702039,12477932,11471052 54715 NM_018723,NM_145893,NM_145891,NM_145892,AC005774,AC006075,AC006112,AC007012,AC007217,AC007222,AC007223,AC009135,AC022206,AC023829,AC027683,AC079410,AC125796,AC131390,AF109107,AF109120,CH471112,AB208826,AF094849,AF107203,AF109106,AF229057,AF448859,AK001027,AL713700,BC026312,BC033885,BC113691,CR621423 NP_061193,NP_665900,NP_665898,NP_665899,AAL83407,AAL83408,AAL83409,EAW85216,EAW85217,EAW85218,EAW85219,EAW85220,BAD92063,AAL83405,AAF78291,AAL83406,AAL71904,AAP41925,BAA91472,CAD28499,AAI13692,Q59HD3,Q8TCM0,Q9NWB1 Hs.459842 GDB:10797363 FOX1|HRNBP1 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. 1302534,1300322,1300048,1549856,1598509,1331525,1598512,1598513,1300321,1358261,1580863,1549857 11435418,9714181,10880251,59727,14718574,18382889,18171086,18077315,17967834,17608619,17453620,17403113,17288987,17071617,16910174,16784755,16650578,16641085,16456795,16407218,16402284,12175343,9724081,9344465,9166830,8583572,7680268,7533769,7533162,7519849,6203908,16384981,16232083,16040006,15931081,6195065,6191979,6172288,6167263,6165619,6153632,3289986,2581245,2476070,2460294,2459995,2430963,2408344,1707161,1697852,1692292,1374237,1370808,1281457,89758,7690356,7524416,1724156,14687906,10681572,15950906,12123860,12062545,12059070,12042276,12015318,11987698,11916201,11910179,11901360,11823454,11811950,11498265,11496365,11484172,11455130,11436125,11290389,11281447,11231028,11166925,11162584,11121179,11100124,11099722,11058789,11036822,11023837,10731476,10714547,10652313,10373500,9865955,9831625,15910735,15908432,15793779,15611997,15511627,15489334,15468911,15023809,14760718,14759632,14715656,14678766,14675603,14637088,14506912,12966032,12782964,12782337,12755687,12755614,12754519,12631277,12477932,12394648,16335952,16297527,12221172,12194978 1302534,1300322,1549856,1598509,1331525,1598512,1598513,1300321,1358261,1549857 2 NM_000014,AC007436,AF349032,AF349033,CH471116,X68728,X68729,Z11711,AB209614,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 GDB:119639 CPAMD5|DKFZp779B086|FWP007|S863-7|alpha 2M 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] 16298998,17562024,16344560,14702039,12477932,10737800 144568 AC006513,AC006581,CH471116,AK057908,AK096448,AK122624,AK123591,NM_144670,AK123592,AK123601,AK290355,AL832139,AL832750,AL833479,BC093840,BC112131,BF330285,BX647674,BX648231,DA436610,EL594621 NP_653271,EAW88602,EAW88603,EAW88604,EAW88605,EAW88606,EAW88607,BAB71612,BAC04793,BAC85494,BAC85653,BAC85654,BAF83044,AAH93840,AAI12132,A8K2U0,Q6ZWK7 Hs.620532 CPAMD9|DKFZp686C1729|DKFZp686D2011|DKFZp686G1812|DKFZp686L1821|DKFZp686O1010|FLJ16045|FLJ25179|FLJ39129|FLJ41597|FLJ41598|FLJ41607 protein-coding 1350441 A2MP alpha-2-macroglobulin pseudogene 1299021 2478422 1299021 3 NG_001067,AC010175,M24415 GDB:128103 pseudo 1606731 A3GALT2 alpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide synthase) 10854427 127550 Q5T0B8 XM_060537,XM_940724,NM_001080438,AL513327 XP_060537,XP_945817,NP_001073907,CAI13954,Q5T0B8 Hs.653217 protein-coding 734223 A4GALT alpha 1,4-galactosyltransferase (globotriaosylceramide synthase) 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. 1300231,1580863 10747952,10748143,16212661,15489334,15142124,12888565,12477932,11896312,11782470,10993874,10854428,10591208 1300231 53947 NG_007495,AB041418,AF513323,AF513326,AF513327,AL049757,AY166861,AY166862,AY166863,AY358074,AY496228,NM_017436,AY496229,AY496230,AY941797,CH471138,Z82176,AB037883,AJ245581,AK074388,BC017068,BC055286,CB150578,CR604491 NP_059132,BAA94503,AAP47164,AAP47167,AAP47168,AAO39149,AAO39150,AAO39151,AAQ68076,AAS77214,AAS77215,AAS77216,AAX20109,EAW73274,CAI18757,BAA95915,CAB93532,AAH17068,AAH55286,Q540I5,Q540I6,Q5D079,Q6RJV9,Q6RJW0,Q6RJW1,Q7Z2I1,Q7Z7C6,Q9NPC4,ABM82545,ABM85737 Hs.105956 GDB:11503095 A14GALT|A4GALT1|P1|PK 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. 1580863 10430883,16441422,15489334,12594234,12477932,11304796,9373149,8125298 51146 NM_016161,AC023049,CH471052,AF141315,AK225668,BC119639,BC119640 NP_057245,EAW79084,AAD48406,AAI19640,AAI19641,Q9UNA3 Hs.278960 MGC149493|alpha4GnT protein-coding 1342487 AA atrophia areata, peripapillary chorioretinal degeneration 1298614 1298614 8 GDB:568984 2290197 AAA1 asthma-associated alternatively spliced gene 1 15073379,12477932 404744 NM_207288,NM_207287,NM_207286,NM_207285,NM_207289,NM_207284,NM_207290,NM_207283,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 NP_997171,NP_997170,NP_997169,NP_997168,NP_997172,NP_997167,NP_997173,NP_997166,EAW94027,EAW94028,EAW94029,EAW94030,EAW94031,EAW94032,EAW94033,AAQ85133,AAQ85134,AAQ85135,AAQ85136,AAQ85137,AAQ85138,AAQ85139,AAQ85140,AAQ85141,AAQ87609,AAQ87610,Q6EIF5,Q6EIF6,Q6EKK1,Q6W4V8,Q6W4V9,Q6W4W0,Q6W4W1,Q6W4W2,Q6W4W4,Q6W4W5 Hs.487951 miscrna 1318625 AAAS achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) 1549858,1598514,1580863 12730363,12228227,16938764,16609705,16543750,16098009,16022285,15843079,15680696,15666842,15489334,15217518,15022193,14702039,12752575,12477932,11914417,11815731,11701718,11159947,11062474,9373149,8968764,8125298 1549858,1598514 8086 NM_015665,AC073611,AJ289841,AJ297977,CH471054,AF226048,AJ289857,AK000833,AK094302,AK222509,AL110160,AY237818,BC000659,BC018836,BT006912,CR590678,CR591048,CR593907,CR595976,CR597176,CR597994,CR601072,CR601632,CR616332,CR619164,DC393722 NP_056480,CAC19038,CAC17465,EAW96692,EAW96693,AAF86948,CAC19017,BAA91394,BAD96229,CAB53665,AAP69911,AAH00659,AAP35558,Q53HS1,Q5JB47,Q9NRG9,ABM84232,ABM84790 Hs.369144 GDB:9954498 AAA|AAASb|ADRACALA|ADRACALIN|ALADIN|DKFZp586G1624|GL003 protein-coding 1347562 AACP arylamide acetylase pseudogene 1298616 9284941,2340091 1298616 11 NG_004857,AC025062,AC120051,X17060 GDB:132838 NATP pseudo 732340 AACS acetoacetyl-CoA synthetase 1300048 17762044,14702039,12623130,12477932,9671465,4073493 65985 NM_023928,AC122688,CH471054,AB054121,AK022451,AK022740,AK024036,AK024760,AK123245,AL833047,AY091468,BC004997,BC036694,BC040490,BC040574,BC041000,BC051862,CR603159,CR613420 NP_076417,EAW98473,EAW98474,EAW98475,BAD22560,BAB14040,BAB14216,BAB14793,BAB14991,CAH56309,AAM44124,AAH04997,AAH36694,AAH40490,AAH40574,AAH41000,AAH51862,Q49AJ4,Q86V21,Q9H7A6,Q9H9K9 Hs.656073 ACSF1|FLJ12389|FLJ41251|SUR-5 protein-coding 1604681 AACSL acetoacetyl-CoA synthetase-like 12477932,10682835 401224 XM_376454,XM_936764,AC113348,AC126915,BC024222 XP_376454,XP_941857 Hs.382790 protein-coding 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 1580863 9665742,11481320,10318829,15152005,8063807,15489334,12721789,12477932,9299245,2043131 13 NM_001086,AC068647,CH471052,AK290628,AV705031,BC020706,BC032309,CR624107,L32179 NP_001077,EAW78791,EAW78792,BAF83317,AAH32309,AAA35551,P22760 Hs.506908 GDB:392587 CES5A1|DAC protein-coding 1606253 AADACL1 arylacetamide deacetylase-like 1 17052608,17052604,15489334,12477932,10718198 57552 NM_020792,AC007919,AC069237,CH471052,AB037784,AL512752,BC028734,BC047588 NP_065843,EAW78462,BAA92601,AAH28734,AAH47588,Q6PIU2 Hs.444099 protein-coding 1606396 AADACL2 arylacetamide deacetylase-like 2 12477932 344752 NM_207365,AC069067,CH471052,BC065724,BX647585 NP_997248,EAW78796,EAW78797,AAH65724,CAI46075,Q6P093 Hs.144710 MGC72001 protein-coding 1602438 AADACL3 arylacetamide deacetylase-like 3 16710414 126767 NM_001103170,NM_001103169,AL513016,AK127828 NP_001096640,NP_001096639,CAH74175,CAH74176,Q5VUY0 Hs.464705 RP11-474O21.3 protein-coding 1603850 AADACL4 arylacetamide deacetylase-like 4 16710414 343066 NM_001013630,AL513016,CH471130 NP_001013652,CAH74173,EAW71744,Q5VUY2 Hs.209954 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. 2290313,2290312 18056996,18056995,15489334,14702039,12477932,12126930,10441733,8087205,1798692 2290313,2290312 51166 NM_182662,NM_016228,AC084866,CH471056,AF481738,AI190763,AK055952,BC031068 NP_872603,NP_057312,AAY41030,EAX04770,EAX04771,EAX04772,AAM09683,AAH31068,Q4W5N8,Q8N5Z0 Hs.529735 GDB:11508931 KAT2|KATII 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. 17494869,17178891,16964243,16903783,16782842,16344560,16083285,15815621,15489334,15302935,15292237,14702039,14617351,12952931,12477932,12471243,11877461,11877457,10470851 22848 NM_014911,AC079121,AC092431,AC114772,AC136007,CH471053,AB028971,AF090100,AF090101,AK055622,AK056043,AK074292,AK098797,AK124872,AK127187,AW451954,AW969393,BC002695,BC073953,BC090950,BC104842,BC111965,BC132937,BC132939,BX640963,BX641060,CA436375,CR599899,CR624904,DA121999,DB285703 NP_055726,AAY14931,AAX88861,EAW99847,EAW99848,BAA83000,BAC86877,AAH02695,AAH90950,AAI04843,AAI11966,Q2M2I8,Q9BUD9 Hs.468878,Hs.695145 DKFZp686F03202|DKFZp686K16132|FLJ23712|FLJ25931|FLJ31060|FLJ42882|FLJ45252|KIAA1048|MGC138170|MGC164568|MGC164570 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. 7743515,16344560,15489334,15146197,12477932,11969303,10329261,9373149,8660919,8125298 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,Q6PJL7 Hs.83347 GDB:4573993 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. 1300232,1580863,1300048 11934439,8661026,17503170,15489334,15332344,14728993,12736803,12552951,12477932,12039872,11427721,11393533,11336675,11313340,9238858,7502081,2181999,8024705 1300232 15 NM_001088,AB023793,AB023794,AB023795,AB023796,AB023797,AC015802,AF360979,CH471099,U40391,BC069434,BC092430,BC126332,BC126334,U40347 AAI26333,NP_001079,BAB20312,BAB20313,BAB20314,BAB20315,BAB20316,AAK49981,EAW89400,AAC50555,AAH69434,AAH92430,AAI26335,AAC50554,Q16613,Q9GZS4,Q9H3S9,Q9H3T0,Q9H3T1 Hs.431417 GDB:700076 AA-NAT|SNAT arylalkylamine n - acetyltransferase 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 7654687,7761427,17081983,15489334,12477932,11829477,11532948,10508479,9373149,8595897,8125298,8076819,2915692 1298623 16 NM_001605,AC009060,AC012184,AC093491,CH471241,AK222824,AK225116,BC011451,BG764123,BU178772,D32050 NP_001596,EAW51838,EAW51839,EAW51840,BAD96544,AAH11451,BAA06808,P49588,ABM82560,ABM85750 Hs.315137 GDB:595485 protein-coding 1321623 AARS2 alanyl-tRNA synthetase 2, mitochondrial (putative) 15779907,15489334,14574404,12477932,12421765,10737800,10574462 57505 NM_020745,AL353588,CH471081,AB033096,BC013593,BC021131,BC033169,BC041026,BC128175,BC131728,BF768723,CR612653 NP_065796,CAI40747,EAX04268,BAA86584,AAH13593,AAH33169,AAI28176,AAI31729,Q5JTZ9 Hs.158381 AARSL|KIAA1270|MT-ALARS|bA444E17.1 alanyl-trna synthetase like protein-coding 1606776 AARSD1 alanyl-tRNA synthetase domain containing 1 15489334,14702039,12477932 80755 NM_025267,AC055866,CH471152,AK056965,AK093402,AK094084,BC004172,BC019324,CR608238,CR613084,CR617160,CR619011,CR621048 NP_079543,EAW60903,EAW60904,EAW60905,EAW60906,AAH04172,AAH19324,Q9BTE6 Hs.317403 MGC2744 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 NP_861522,EAX05484,EAX05485,EAX05486,AAF28996,AAP76519,AAQ83120,AAR31184,AAH15096,AAH71815,AAI41825,AAI42710,CAH56130,Q4L235,CAH56482 Hs.104347 ACSF4|LYS2|NRPS1098|NRPS998 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 16189514,15489334,12815048,12477932,11286508,11042152,10931946,10810093 60496 BX537665,CR597963,NM_015423,AP001001,CH471065,AB072896,AF136978,AF151057,AF151838,AF201943,AF302110,AL050073,BC015470,BC016728 AAH16728,Q9NRN7,ABM82268,ABM85450,NP_056238,EAW67077,EAW67078,AAG49439,AAF36143,AAD34075,AAF86879,AAG30872,CAB43257,AAH15470 Hs.524009 GDB:11502140 AASD-PPT|CGI-80|DKFZp566E2346|LYS2|LYS5 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. 1300048 10775527,10567240,14702039,12853948,12690205,9847074,9373149,8125298 10157 NM_005763,AC006020,CH236947,CH471070,AF229180,AJ007714,AK023446,AK225898 NP_005754,AAF03526,EAL24343,EAW83564,EAW83565,AAF44328,CAA07619,Q9UDR5,AAI56457 Hs.156738 GDB:11502144 LKR/SDH|LKRSDH|LORSDH 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. 1580863 15231747,17157788,10580117,12429849,18341201,17488777,17468107,17081983,17006618,16565220,16189514,15635413,15489334,15207272,14761944,14702039,14697667,14627703,12847090,12477932,12450794,11790298,11027528,10783144 26574 CR616929,NM_012138,AC003103,AC023315,CH471199,AF083208,AF161395,AJ249940,AK026173,AK057229,BC000591 AAH00591,Q9NY61,ABM83023,ABM86216,NP_036270,EAW57575,AAD52016,AAF28955,CAB57451 Hs.195740 GDB:11510525 CHE-1|CHE1|DED 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. 1580863 17651901,16969489,15489334,14702039,14521924,12670708,12477932,12168954,11314040,11314039,10837911,10083745,9734811,14563843 9625 NM_001080395,XM_001714082,AC115099,AB014541,AK094931,AK131395,AK131529,BC047378,BI256809 NP_001073864,XP_001714134,BAA31616,BAD18544,BAD18667,AAH47378,Q6ZMQ8 Hs.514575 GDB:9957818 AATYK|AATYK1|KIAA0641|LMR1|LMTK1|p35BP protein-coding 1344732 AAVS1 adeno-associated virus integration site 1 1334463 17 S51329 GDB:125369 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. 1580863,1598516,1598518,1598520,1598522,1598524,1598531,1300048 15528998,15650327,16344560,15830322,15642443,15489334,14702039,12694932,12477932,10951220,10407778,7851425,7721088,7305280,6470007,6148708,11918424,18334916 1598516,1598518,1598520,1598522,1598524,1598531 18 NM_020686,NM_000663,NM_001127448,AC007224,AC012173,CH471112,AA806200,AF237813,AK096146,AK290501,AK310771,AL137454,BC008990,BC013965,BC015628,BC031413,BC075851,BG749438,BG818982,BI459888,BI602086,BX537362,CR593324,CR599622,DA228305,DA300126,DA531116,DB443567,DB479117,DC335224,L32961,S75578,U80226 NP_065737,NP_000654,NP_001120920,EAW85207,EAW85208,AAG09758,BAF83190,AAH08990,AAH15628,AAH31413,AAA74449,AAD14176,AAB38510,P80404,Q96H14,Q9HBH6,ABM83995,ABM87322 Hs.336768 GDB:581658 FLJ17813|GABA-AT|GABAT|NPD009 protein-coding 1603934 ABBA-1 actin-bundling protein with BAIAP2 homology 14752106,12477932 92154 NM_138383,AC020763,CH471241,AB115770,BC002770,BC011452,BC024752,BC025271,BU859607,CR590913 NP_612392,EAW51797,EAW51798,EAW51799,BAC98378,AAH02770,AAH24752,Q765P7,Q8TB44,AAI56234 Hs.432387 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. 1298630,1331525,1600654,1580863,1298571,1600951,1598532,1598533,1598534,1598547,1300323,1601092,1300233,1300234 12928428,12870173,12869555,12860256,12813037,12804586,12763760,12730295,12709788,12706378,12700893,12624133,12615681,12600975,12600718,12576507,12562845,12551894,12535741,12511593,12509412,12477932,12426219,12359250,12235128,12226704,12204794,12196520,16192272,16192271,16192270,16166555,16157450,16126721,16120575,16118212,16086925,16080812,16055210,16030523,16009332,15983222,15961705,15958302,15952113,15951431,15935359,15930518,15905177,15890646,15851589,15829498,15817453,15774904,15721294,15696473,15657615,15649702,15574409,15528481,15528463,15520867,15500734,15492319,15358760,15358117,15340333,15297675,15292375,15288432,15280376,15262183,15218032,15201080,15158913,15140889,15135251,16443932,11162594,12084722,16702602,16192269,15469992,10431236,14747463,11855831,15163665,14701824,10525055,18468402,18354102,18343215,18239666,18220685,18219093,18215356,18199144,18164264,18097620,18057374,18003760,17992631,17951323,17923263,17855807,17700364,17690481,17689273,17656736,17608096,17556657,17553166,17550732,17521614,17510949,17510946,17510466,17481640,17430597,17412755,17407076,17383594,17372331,17368464,17335784,17324514,17287470,17268197,17241464,17196163,17135600,17135302,17121837,17113061,17082211,17070530,17020879,17001213,16928680,16902247,16901265,16879828,16873719,16870193,16855366,16825673,16806540,16806233,16770077,16763159,16730733,16725228,16709568,16596262,16542392,16505586,16500904,16497665,16456089,16446539,16429166,16418537,16410457,16343503,16313984,16254209,16235041,16226177,16207713,16192292,16192291,16192290,16192289,16192288,16192287,16192286,16192285,16192284,16192283,16192282,16192281,16192279,16192278,16192277,16192276,16192275,16192274,16192273,15102890,15066991,15033469,15024730,14993242,14986172,14967823,14967052,14962947,14767869,14754908,14734645,14702039,14701850,14701812,14681836,14668333,14660648,14644402,14576201,14570867,14560020,14559902,12966036,12952980,12151852,12111371,12093886,12054535,12032171,12009425,11950847,11940086,11929608,11893753,11861672,11809185,11785958,11752403,11719471,11700048,11476965,11476961,11352567,11349008,11279031,11257261,11257260,11238261,11086027,10970803,10938021,10884428,10799318,10706591,10535983,10533863,10431238,10431237,10092505,9731541,9006906,8088782,12176027,7766993,17076584,11864601 1298630,1331525,1600654,1298571,1600951,1598532,1598533,1598534,1598547,1300323,1601092,1300233,1300234 19 NM_005502,AF165286,AF165306,AF165309,AF165310,AF258626,AF275948,AF287262,AJ252277,AL353685,AL359182,AL359846,CH471105,AB037924,AB055982,AB208839,AF165281,AF258627,AF285167,AJ012376,AK024328,AK027864,BC034824,BC141816,BC142693,BC146856 NP_005493,AAD49851,AAD49852,AAD49854,AAD49853,AAF69516,AAF86276,AAK43526,CAC21428,CAH73579,EAW58992,EAW58993,EAW58994,BAB07875,BAB63210,BAD92076,AAD49849,AAF69513,AAF98175,CAA10005,BAB14887,AAI41817,AAI42694,AAI46857,O95477,Q59HC0,Q5VX33,Q5VYS0,Q5VYS1,Q9H002,Q9H7T8,Q9NP93,Q9NS76 Hs.429294 GDB:305294 ABC-1|ABC1|CERP|FLJ14958|HDLDT1|MGC164864|MGC165011|TGD 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. 1580863 16094384,15489334,12821155,12477932,11435397,8894702 10349 NM_080282,AC005495,AY247105,CH471099,AL832004,AY028900,AY247065,BC031026,BC051320,C16161 NP_525021,AAO72160,EAW89077,EAW89078,CAD89903,AAK30025,AAO72161,AAH31026,AAH51320,Q8WWZ4,Q9P162,AAI66667 Hs.25377 GDB:9956420 EST698739 protein-coding 1346566 ABCA11 ATP-binding cassette, sub-family A (ABC1), member 11 (pseudogene) 16344560,14702039,12477932 79963 AC092574,CH471131,AK024359,BC060316,BC098116,BC098259,BC098291,BC099730,BC105084,BC112069,DA501191,NR_002451 AAY41037,EAW82667,BAB14895,AAH98116,AAH98259,AAH99730,AAI05085,AAI12070,Q4KMZ2,Q4W5N1,Q9H7T1 Hs.428360 GDB:9956416 ABCA11P|EST1133530|FLJ14297|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. 1598548 12697999,12915478,17927575,17611579,17591952,17508018,16902423,16007253,15980630,15756637,14702039,11435397,10094194,8894702,8845852 1598548 26154 NM_173076,NM_015657,NG_007074,AC072062,AC114780,CH471063,AF418105,AK096597,AK123578,AL080207,AY033486,AY219711,CR609974 NP_775099,NP_056472,AAY24276,AAY24230,EAW70520,EAW70521,EAW70522,AAN40735,CAB45776,AAK54355,AAP21093,Q53QE2,Q53S55,Q86UK0 Hs.134585 GDB:127789,GDB:1313476,GDB:11505577 DKFZp434G232|FLJ41584|ICR2B|LI2 protein-coding 1352197 ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13 Members of the ATP-binding cassette (ABC) transporter superfamily carry out energy-dependent transport of substrate molecules. ABCA13 belongs to a subfamily of ABC transporters that contain 2 transmembrane (TM) domains, each with about 6 membrane-spanning segments, and 2 nucleotide-binding domains (NBDs), which are located in the cytoplasm.[supplied by OMIM] 14702039,12697998,12477932 154664 AC073424,AC073927,AC091770,AC095039,CH236955,CH471128,AF501281,AK091195,AK091270,AK126220,AK128516,AK128570,AK131360,AY204751,BC062666,NM_152701,BX647560 NP_689914,EAW60990,EAW60991,EAW60992,AAO59914,BAC03605,BAC03623,BAC86492,BAC87475,BAC87504,BAD18512,AAP13576,Q5HYK4,Q6ZN63,Q6ZR18,Q6ZR43,Q86UQ4,CAI46091 Hs.226568 DKFZp313D2411|FLJ16398|FLJ33876|FLJ33951 protein-coding 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. 1298630,1580863 15999530,7766993,12363033,15238223,11178988,11309290,18336955,17081983,16752360,16344560,15850583,15649702,15491607,15155565,15093135,12560508,12477932,12421765,12107413,10970803,10639163,10470851,8088782,1538749 1298630 20 BF983101,NM_212533,NM_001606,NG_007527,AF327658,AF327659,AF327660,AF327661,AF327662,AF327663,AF327664,AF327665,AF327666,AF327667,AF327668,AF327669,AF327670,AF327671,AF327672,AF327673,AF327674,AF327675,AF327676,AF327677,AF327678,AF327679,AF327680,AF327681,AF327682,AF327683,AF327684,AF327685,AF327686,AF327687,AF327688,AF327689,BI195329,BM314339,BM474929,BM921242,BM921499,CD612070,CD676110,DB168116,U18235,U18236,AF327690,AF327691,AF327692,AF327693,AF327694,AF327695,AF327696,AF327697,AF327698,AF327699,AF327700,AF327701,AF327702,AF327703,AF327704,AF327705,AL807752,CH471090,AB028985,AB177854,AF178941,AF327657,AL162060,AL525193,AL833967,BC008755,BC029282,BC064542,BC090860,BC109244,BE273611,BF516223 NP_997698,NP_001597,AAK14335,AAA84436,AAA84437,Q08EJ9,Q13038,Q13039,Q5SPY4,Q5SPY5,Q5SPZ4,Q5SPZ6,Q5W9G5,Q6P2G5,Q76MW7,Q96HC2,Q9BZC7,Q9HC28,Q9UPU0,CAI12765,CAI12766,CAI12767,CAI12768,CAI12769,CAI12770,EAW88331,EAW88332,EAW88333,BAA83014,BAD66832,AAG09372,AAK14334,CAB82398,AAH08755,AAH64542,AAI09245 Hs.421202 GDB:305295 ABC2|MGC129761 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. 1580863,1549859 9027511,8706931,15531465,11718719,18317237,18246475,18024538,17660803,17597647,17574245,17429902,16968533,16959783,16857811,16415354,16344560,15976379,15465012,15044640,12477932,11940594 1549859 21 NM_001089,AC005212,AC007162,AC009065,AC098805,AC106820,CH471112,DQ073080,AB070929,AB210044,BC020724,BC035752,BC062779,BC140895,BC146866,BC151840,BP397501,DA109409,U78735,X97187 Q99758,Q6P5P9,NP_001080,EAW85515,AAY57325,BAB86781,BAE06126,AAH20724,AAH62779,AAI40896,AAI46867,AAI51841,AAC50967,CAA65825,Q4LE27 Hs.26630 GDB:3770735 ABC-C|ABC3|EST111653|LBM180|MGC166979|MGC72201|SMDP3 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. 1580863,1598551,1598552 9503029,9490294,9466990,9295268,9288113,9288089,9070931,8894702,8889548,16917483,16681420,16604398,16546111,16533065,16303926,15947798,15494742,15375613,15223829,15017103,12888572,12824224,12796258,12754711,12592048,12515255,12442277,12202497,12111378,11973624,11919200,11726554,11594993,11527935,11444963,11385708,11384574,11379881,11346402,11328725,11320094,11017087,10958763,10958761,10880298,10767284,10746567,10711710,10634594,10612508,10466724,10206579,10090887,10075733,9973280,9781034,9703434,9666097,9054934,9202155,9425888,18334942,18285826,18214793,18024811,17997789,17982420,17932850,17724221,17325136,17286855 1598551,1598552 24 NM_000350,AC093579,AC105278,AF533020,CH471097,Y15635,AB210040,AF000148,AF001945,AK310492,AL712362,BM686882,CR627391,DQ426859,U66691,U88667 NP_000341,AAP33155,EAW73056,EAW73057,EAW73058,CAA75729,BAE06122,AAC23915,AAC05632,CAH10486,ABD90529,AAC51144,P78363,Q0QD48,Q4LE31,Q6AI28,Q86V62 Hs.416707 GDB:370748 ABC10|ABCR|ARMD2|CORD3|DKFZp781N1972|FFM|FLJ17534|RMP|RP19|STGD|STGD1 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. 1580863,1549860 17541169,17289887,14702039,12504089,12477932,11572484,11435397,8894702 1549860 23461 NM_172232,NM_018672,AC005495,AC115085,CH471099,AB067475,AJ275973,AJ512612,AK056533,AK058170,AK094416,AK096664,AK122803,AK292592,AY028897,BC029426,BC054480,BC070126,BF448717,BX640746,BX647447,BX648540 NP_758424,NP_061142,EAW89080,EAW89081,EAW89082,EAW89083,BAB67781,CAB93535,CAD54757,BAB71208,BAB71700,BAF85281,AAK30022,AAH29426,CAE45856,Q05C38,Q6N017,Q8WWZ7,AAI56257 Hs.421474 GDB:9964240 ABC13|DKFZp451F117|DKFZp779N2435|EST90625|FLJ16381 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. 1580863 15489334,14702039,12477932,11478798,11435397,10639163,8894702 23460 NM_080284,AC005495,AC005922,AF373328,AF373290,AK097296,AK125487,AY028898,BC029852,BC070125,BC125231,BC125232,CR593055,U66680 NP_525023,AAM77558,AAM77557,BAC04994,AAK30023,AAH70125,AAI25232,AAI25233,Q8N139,AAI66682 Hs.709514 GDB:9964242 EST155051|FLJ43498 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. 10873640,16908670,15930518,15593299,15203218,14570867,14702039,14592415,12925201,12917409,12111378,11435699,11355874,11095984,11054552 10347 AF250238,AF328787,AK097344,AL137481,BU675136,CD629701,DC405492,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,NM_019112 AAF85794,AAK00959,CAB70762,Q8IZY2,Q9NT80,NP_061985,AAN04657,EAW69556,EAW69557,EAW69558,EAW69559,EAW69560,EAW69561,EAW69562,EAW69563,EAW69564,BAB62294,AAF06727 Hs.134514 GDB:9956413 ABCA-SSN|ABCX|FLJ40025 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. 1580863 12379217,15489334,14702039,12477932,12111378,11329013,10048485,8889548 10351 NM_007168,AC005922,AC015844,CH471099,AB020629,AK090894,BC010392,BC024003,BC037309,BC047765,BC094689,BC130280,BG210966,BM665457,BM707283 NP_009099,EAW89068,EAW89069,BAA74845,AAH24003,AAH37309,AAH47765,AAH94689,AAI30281,O94911,Q49AI9 Hs.58351 GDB:9956431 KIAA0822|MGC163152 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. 1580863 15489334,14702039,12477932,12150964,11435397,8894702,8889549 10350 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,NM_080283,AC005922,AF423308,AF423309,AF423310,AF423311,AF423312,AF423313,AF423314,AF423315,AF423316,AF423317,AF423318,AF423320,AF423321,AF423322,AF423323,AF423324,AF423325,AF423326 EAW89071,EAW89072,EAW89073,EAW89074,AAN32751,BAB71359,BAC11021,AAK30024,AAH62472,CAH10479,Q6AI35,Q8IUA7,NP_525022,AAN32752 Hs.131686 GDB:9956426 DKFZp686F2450|EST640918|MGC75415 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. 1598554,1580863,1598562,1598563,1598564,1358367,1598558,1598559,1598568,1598560,1358366 18192894,18165917,18095031,18091560,18090046,18086475,18080812,18075465,18059532,18058465,18058211,18056183,18035065,18028890,18004247,18003760,18003606,18001833,17963743,17955490,17954267,17952118,17943188,17940136,17938643,18214345,3768958,17088979,3022150,12493773,18474294,18460034,18444945,18442890,18436433,18424454,18416940,18414651,18408564,18408562,18408561,18393221,18391751,18389626,18388883,18385010,18382661,18381794,18377430,18340565,18338763,18336668,18334915,18334914,18329296,18324624,18318115,18305404,18303963,18300948,18294295,18287207,18285546,18280247,18279661,18272218,18257092,18243305,18240903,18223462,18223457,18221820,18215618,17260353,17259654,17255827,17255262,17242936,17225463,17220567,17206635,17202846,17198275,17198259,17192767,17190370,17187507,17185560,17184596,17181924,17178268,17178267,17177989,17165089,17157997,17148776,17148033,17146660,17142980,17125969,17120199,17113599,17113562,17112846,17112845,17112800,17108809,17107902,17100974,17085864,17083370,17080296,17062699,17054409,17050796,17049058,17047492,17043887,17042920,17038891,17033200,17032130,17925548,17924830,17922881,17922049,17919092,17917461,17913323,17913048,17898703,17891478,17890284,17885626,17885624,17880367,17875533,17875118,17851225,17828778,17828752,17803828,17785057,17706648,17701008,17700595,17700364,17697203,17696319,17690695,17688368,17674045,17671692,17667922,17665184,17662696,17653693,17652833,17636884,17635182,17635180,17635176,17622943,17611654,17610314,17608770,17608636,17596751,17579122,17577681,17568669,17568575,17560460,17559997,17559192,17556798,17551301,17549370,17548929,17548683,17548681,17548493,17545536,17545060,17542018,17541883,17541169,17541155,17534875,17530867,17529887,17526937,17526808,17524504,17523278,17521963,17519790,17517050,17510208,17505995,17495881,17492365,17489883,17488488,17468018,17460550,17445775,17443726,17434155,17425754,17418094,17417072,17409981,17409824,17404720,17394131,17392393,17391324,17387584,17377957,17377214,17376299,17372036,17361121,17354009,17352764,17340137,17332941,17328248,17324111,17312388,17306068,17301693,17301692,17300681,17296590,17286792,17283040,17262810,17262809,17027968,17020985,17015054,17015051,17011724,16999857,16990202,16969296,16960658,16956878,16953664,16953066,16950614,16946557,16932953,16930597,16929535,16926592,16912957,16906020,16896007,16869811,16857572,16847760,16847425,16844693,16842392,16830791,16827636,16821592,16819187,16800822,16797284,16791115,16788565,16773678,16773437,16771603,16769591,16765145,16753004,16753003,16740770,16733848,16723498,16722833,16721513,16704962,16702732,16691488,16679408,16648557,16633048,16628701,16614510,16608921,16595916,16584389,16580900,16566920,16547352,16542858,16542205,16538177,16531628,16523342,16521213,16513443,16507781,16505951,16505485,16494108,16492138,16489767,16481289,16478794,16467099,16462040,16434865,16434479,16431292,16413242,16410721,16409819,16386926,16386826,16382445,16382213,16381901,16380805,16374256,16355344,16338277,16338276,16331627,16331555,16321621,16321374,16315033,16306861,16305727,16299241,16288004,16284462,16278398,16278376,16277030,16277027,16267764,16259010,16249748,16239972,16223781,15778421,15772250,15767512,15750390,15725475,15718846,15717687,15713537,15709212,15707415,15704610,15690482,15685540,15671173,15665957,15659247,15651752,15622315,15618713,15618700,15618625,15598974,15592326,15588114,15570194,15563462,15547738,15543762,15784621,15778422,15542593,15542248,15536457,15535420,15535131,15521904,15505619,15502717,15498565,16220110,16214115,16206189,16170863,16168133,16146556,16146331,16142320,16141933,16138358,16138223,16103896,16091741,16083877,16044113,16042669,16042402,16041239,16004559,16002074,15976989,15975076,15974580,15964250,15962371,15961978,15961534,15952872,15950972,15947495,15936020,15931768,15919447,15919446,15917726,15912392,15901749,15886424,15857428,15832500,15814280,15813023,15808585,15801936,1976255,1972623,1967175,1360409,15934943,9542318,15696166,2571078,2568832,15102868,15102684,15089809,15084935,15083070,15081455,15059065,15033457,15015771,14984901,14976162,14962262,14769796,14767809,14752243,14749322,14747421,14711599,14676821,14662772,14646693,14640677,14631505,14610718,14600574,14586389,14583799,14583680,14583679,14583678,14580164,15115917,12711602,12698307,12690205,12686700,12684679,12662900,12653559,12609990,12604403,12593536,12592352,12576456,12566917,12565174,12548153,12545142,12545080,12527911,12512026,12492608,12490309,12485913,12452027,12441809,12437356,12426522,12426521,12424247,12408767,12406646,12392094,12389613,12368167,12360104,12360103,12237135,12226074,12223492,12208746,12202670,12189368,14576852,14563687,14563443,14522974,12969965,12968025,12966368,12960109,12909621,12907627,12879168,12853948,12851703,12848778,12819250,12819037,12817518,12810633,12810067,12805007,12804765,12781336,12777401,12739761,12724617,12177731,12175731,12174914,12172213,12172212,12163030,12152989,12145328,12130511,12125964,12112526,12091325,12089380,12084474,12082591,12073053,12070134,12065748,12055198,12031911,12011154,12010657,11990782,11990778,11989822,11986944,11980438,11976833,11960367,11949840,11937269,11934808,11925925,11908757,11891276,11865062,11855781,11829140,11809184,11786185,11771758,11727264,11697464,11683237,11563129,11536079,11503014,11502320,11463358,11356939,11337937,11258197,11240981,11230166,11076863,10790226,10716719,10441477,9885221,9473242,9272126,9038218,9029166,8898203,7909431,7621073,3477522,3027054,2897240,2891692,2876781,15489336,15488952,15487808,15452306,15452305,15382145,15379547,15371983,15351976,15339676,15312098,15288699,15280437,15277258,15272088,15257034,15256718,15247630,15247215,15234575,15226679,15226675,15203864,15179406,15167702,15159385,15138130,15131592,15116055 1598554,1598562,1598563,1598564,1358367,1598558,1598559,1598568,1598560,1358366 5243 AC002457,AC005068,AF016534,AY910577,CH236949,CH471091,M29422,M29423,M29424,M29425,M29426,M29427,M29428,M29429,M29430,M29431,M29432,M29433,M29434,NM_000927,M29435,M29436,M29437,M29438,M29439,M29440,M29441,M29442,M29443,M29444,M29445,M29446,M29447,M37724,M37725,X58723,AB208970,AF016535,AK290159,AY425005,AY425006,AY425007,BC130424,BQ720763,BQ882401,BX509020,CB164676,CR595422,M14758 AAM49149,AAB70218,AAW82430,EAL24173,EAW76940,EAW76941,EAW76942,EAW76943,AAA59576,NP_000918,AAA88047,AAA88048,CAA41558,BAD92207,AAB69423,BAF82848,AAR91621,AAR91622,AAR83914,AAI30425,AAA59575,O60213,P08183,Q0JTD3,Q59GY9,Q6TBL4,CAL38230 Hs.489033 GDB:120712 ABC20|CD243|CLCS|GP170|MDR1|MGC163296|P-gp|PGY1 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. 1580863 10748049,15252450,15215243,12477932,11829140,10922475,7766993 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 GDB:9964250 EST20237|M-ABC2|MTABC2 protein-coding 1345233 ABCB10P ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 10922475,7766993 56476 NG_005041,AC116165,AF218417 GDB:11505579 M-ABC2|MABC2 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. 1580863,1598583,1598580,1598571,1598596,625722 18176959,17622941,17264802,16941683,16890614,16871584,16763017,16749857,16290310,16039748,15791618,15471871,15300568,15159385,15077010,14999697,14762791,12825874,11829140,11815775,11783115,11745042,11600213,11495894,11172067,10579978,9545351,9806540,18395098 1598583,1598580,1598596,625722 8647 NG_007374,AC008177,AC069137,AC093723,CH471058,CS016617,AB012959,AF091582,AF136523,NM_003742 NP_003733,AAY24305,AAY24100,EAX11285,EAX11286,EAX11287,CAI54162,BAA88711,AAC77455,AAD28285,O95342,Q53S60,Q53TL2,Q9UIL3 Hs.658439 GDB:9864786 ABC16|BSEP|PFIC-2|PFIC2|PGY4|SPGP 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. 1598588,1598589,1300324,1300325,1358123 17562004,17523162,17264802,17187437,16891356,16890614,16857572,16854530,16763017,16696816,15258199,15159385,15077010,14999697,14527955,17786139,17726488,12891548,12853948,12746424,12690205,12477932,12388190,12381474,12206920,11745043,11313316,10767346,9923886,9419367,8898203,7912266,7734012,3477522,2906314,7912658,7893760,8106172,18482588,18083082,2892668,2002063,9542318 1598588,1598589,1300324,1300325,1358123 5244 NM_018850,NM_018849,NM_000443,NG_007118,AC005045,AC005068,AC006154,CH236949,CH471091,EF034088,Z35286,BC020618,BC042531,M23234,X06181,Z35284 NP_061337,NP_000434,AAD05023,EAL24174,EAL24175,EAL24176,NP_061338,EAW76944,EAW76945,EAW76946,EAW76947,EAW76948,EAW76949,EAW76950,EAW76951,EAW76952,ABJ53424,CAA84543,AAH20618,AAH42531,AAA36207,CAA29547,CAA84542,O43249,P21439,Q4G0Q4,Q6PJ81,Q75MQ5 Hs.654403 GDB:120713 ABC21|GBD1|MDR2|MDR2/3|MDR3|PFIC-3|PGY3 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] 18202660,15899824,15760339,15489334,15205344,12960149,12690205,12477932,8894702,9542318 340273 NM_178559,AC002486,AC005060,CH236948,AB353947,AF319622,AF399931,AK127141,AY090613,AY230001,AY234788,AY785909,AY851364,AY851365,BC044248,BC104894,BC104920,BC110370,BX537763,CR595059 NP_848654,EAL24273,BAF75364,AAN76500,AAQ03033,AAM09027,AAP55848,AAO73470,AAX11382,AAW31629,AAW31630,AAI04895,AAI04921,A0ASV4,Q2M3G0 Hs.658821 GDB:9964244 ABCB5alpha|ABCB5beta|EST422562 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. 1580863,1300326 10837493,11977179,11955620,18279659,17661442,17006453,16791740,15489334,14702039,12477932,9288777,9110174,8894702,8619474 1300326 10058 AB039371,AC068946,AF308473,CH471063,AF070598,AF076775,AF308472,AJ289233,AK026067,AK057026,AK172812,BC000559,BC043423,CR609962,U66673,NM_005689 BAA96733,AAG33618,EAW70694,EAW70695,EAW70696,EAW70697,EAW70698,EAW70699,EAW70700,EAW70701,EAW70702,EAW70703,EAW70704,EAW70705,AAC28653,AAF75107,AAG33617,CAB95766,BAB71347,BAD18782,AAH00559,AAH43423,Q9NP58,ABM82802,ABM85989,NP_005680 Hs.107911 GDB:9954945 ABC|ABC14|EST45597|FLJ22414|MTABC3|PRP|umat 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. 1298634,1598600,1580863 11050011,9621516,10196363,17941052,15772651,15489334,14702039,12480705,12477932,11843825,11042152,9883897,9653160,9143506,8894702 1298634,1598600 22 AL590232,CH471104,AF038950,AF078777,AF133659,AK001418,BC006323,BG722908,BQ630948,BT009918,BX537833,CR612563,NM_004299,AF241887,AL359545,AL360179 EAW98632,EAW98633,EAW98634,EAW98635,EAW98636,EAW98637,AAC39865,AAD47141,AAD33045,AAH06323,AAP88920,CAD97847,O75027,Q7Z3K5,ABM81618,ABW03277,NP_004290,AAK20173 Hs.370480 GDB:7016795 ABC7|ASAT|Atm1p|EST140535 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. 1580863 9878413,16344560,14702039,12477932,11829140,9373149,8894702,8125298 11194 NM_007188,AC010973,CH471173,AF047690,AF086382,AK002018,AK024401,AK094005,AK094636,AK126885,AK222911,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,BAC04392,BAC86736,BAD96631,AAI41815,AAI41837,AAI51236,Q6ZRM3,Q6ZT58,Q8N1X3,Q9NUT2,AAI43081,AAI46830 Hs.647118 GDB:9964246 EST328128|M-ABC1|MABC1 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. 1580863 10748049,18175933,17977821,16554024,16344560,15863492,15491607,15489334,15302935,14702039,13679046,12477932,11829140,11011155,10819331,8894702,8889548 23457 AF216494,AK027624,AK074738,AL833963,BC017348,BC064384,CA503047,CR592700,CR614075,DA796102,U66676,NM_019624,NM_019625,AC026362,AC027290,CH471054,CS071961,CS071963,AB040953,AB045381,AB112582,AB112583,AB177852,NM_203444 AAF89993,BAC11171,CAD38811,AAH17348,AAH64384,Q5W9G7,Q6P2Q0,Q769F3,Q769F4,Q8NCH1,Q8NDJ1,Q9NP78,BAD66830,NP_982269,NP_062570,NP_062571,EAW98353,EAW98354,EAW98355,EAW98356,EAW98357,EAW98358,EAW98359,EAW98360,EAW98361,EAW98362,EAW98363,CAI93387,CAI93388,BAA96044,BAA97989,BAC98409,BAC98410 Hs.511951 GDB:9964248 EST122234|KIAA1520|TAPL 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. 1580863 16230346,16156793,16041243,16041239,16014004,15856298,15810950,15628876,15623154,15472893,15355964,15269137,15260484,15252017,15245331,15208328,15161912,15155846,14984901,14737110,14722114,14580377,14578045,14561746,12960109,12954620,12954082,12925771,12897808,12890151,12882957,12856092,12783859,12653207,12646196,12628490,12576456,12486126,12458196,12388627,12388549,12235150,12186871,12163030,12146977,12135486,12119019,12084474,12042670,12034727,12018890,11996108,11995968,11986944,11937269,11925441,17980150,17925548,17890284,17875533,17710652,17606722,17596751,17494643,17445775,17350479,17336270,17295059,17264072,17215852,17203221,17050692,17033200,16960658,16946557,16914551,16883578,16821592,16784241,16697012,16621983,16565074,16551273,16547352,16481346,16464259,16410721,16330681,16293801,16278376,1360704,15999530,18381794,18336795,18316614,18280247,18256692,18204073,18038766,11820781,11809686,11783953,11771758,11755464,11721885,11689020,11600213,11561076,11557130,11469806,11465409,11439001,11278867,11278596,11266082,11139250,11114332,10950878,10835642,10811882,10493829,10064732,9485377,9441948,9344662,9334225,9295302,8831715,8649356,8098549,7916458,16395283 4363 NM_019900,NM_019898,NM_019862,NM_019899,AC003026,AC025778,AC130651,AC136624,AF022853,CH471226,NM_004996,U91318,AB209120,AJ003198,BC001636,BX648866,CR749835,L05628,X78338 NP_004987,NP_063955,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 Hs.709181 GDB:136335 ABC29|ABCC|DKFZp686N04233|DKFZp781G125|GS-X|MRP|MRP1 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. 1358123 17203221,16034073,15256465,14702039,14574404,12566991,12527806,12477932,11146224,8894702 1358123 89845 NM_033450,AL359813,CH471081,AK000002,AK024446,AL122095,AL133613,AY032599,BC024103,CR598420 NP_258261,CAI23217,CAI23218,CAI23219,CAI23220,EAX04180,EAX04181,EAX04182,EAX04183,EAX04184,EAX04185,BAA92227,BAB15736,CAB59263,CAB63742,AAK39642,AAH24103,Q5T3U2,Q5T3U3,Q5T3U5,Q8TBA1,Q9UFG1,AAI66699 Hs.55879 GDB:9956578 EST182763|MRP7|SIMRP7 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. 1580863 17095618,16444273,16359813,15537867,15331440,15277376,12764137,12477932,12133003,12076558,11803621,11802779,11688999,11591886,11483364,11435397 85320 NM_145186,NM_032583,NM_033151,AC007600,AC096996,CH471092,AF352582,AF367202,AF411579,AL117406,AY040219,BC039085 NP_660187,NP_115972,NP_149163,EAW82715,EAW82716,EAW82717,EAW82718,EAW82719,EAW82720,EAW82721,EAW82722,AAK19755,AAK58869,AAL99902,AAK76739,AAH39085,Q8IXV6,Q96J66,AAI52903,AAI57085 Hs.652267 GDB:11499721 EWWD|MRP8|WW 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. 1580863 16344560,15489334,14965249,12477932,12011458,11688999,11483364,11435397 94160 NM_033226,AC096996,CH471092,AF395908,AF395909,AF411577,AF411578,AK122635,AK127951,AY040220,AY196326,BC036378,DA096073 NP_150229,EAW82705,EAW82706,EAW82707,EAW82708,EAW82709,EAW82710,EAW82711,EAW82712,EAW82713,EAW82714,AAL79528,AAL79529,AAL99900,AAL99901,BAC87203,AAK76740,AAO40749,AAH36378,Q6ZRV6,Q96J65,AAI46311,AAI48750 Hs.410111 GDB:11499726 MGC27071|MRP9 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. 1580863 16124856,15203202,14759258,12909339,12445816,12036298,10830953,8894702 150000 NR_003087,NR_003088,AF130358,AP001660,AY344118,CH471079,AF418600,AF518320,AF518321,AY063514,AY063515,AY344117,DR004370 BAA95546,AAQ65077,EAX10058,EAX10059,AAL99903,AAM70494,AAM70495,AAL47201,AAL47202,AAQ22368,Q9NSE7 Hs.366575 GDB:11511157 C21orf73|PRED6 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. 631914,1598602,1598558,1598611,1598613,1598614,1598616,1598571,1598605,69812,1580863,704399,1358123 7559771,18445995,18416940,18381794,18334920,18294295,18221820,18192894,18176959,18038766,17997497,17925548,17924828,17906856,17890284,17825285,17622941,17606722,17578901,17534875,17502832,17494643,17485564,17478601,17403188,17241877,17185998,17156953,17145840,17112803,17083032,17060857,17047488,16946557,16821592,16791115,16788565,16771603,16672223,16628674,16542205,16505951,16426233,16341674,16330681,16041239,15922475,15870973,15848949,15801936,15519273,15226675,15211708,15057744,17287630,12960109,12942343,12890151,12704183,12702717,12628490,12615054,12576456,12395335,12388192,12222674,12130697,12068294,11952788,11937269,11745434,11677213,11500505,11477083,11266082,11093739,11076395,14568249,11004020,10573531,10496535,10464142,10361853,10053008,9878557,9525973,9425227,9284939,9185779,8894702,8797578,8662992 631914,1598602,1598558,1598611,1598613,1598614,1598616,1598605,69812,704399,1358123 1244 NM_000392,AF144630,AJ132244,AL133353,AL392107,CH471066,CS172499,BM765259,CB120555,U49248,U63970,U66683,X96395 NP_000383,AAD47599,CAB45309,CAI14502,CAI14503,CAI11010,EAW49852,EAW49853,CAJ33679,AAB09422,AAB39892,CAA65259,Q5T2B1,Q5TCZ5,Q92887,Q9UN90 Hs.368243 GDB:6089489 ABC30|CMOAT|DJS|KIAA1010|MRP2|cMRP 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. 1300327,1598620,1580863,1358123 9813153,9738950,18313914,18207572,18038766,17495421,17494643,17485564,17300812,17272513,16946557,16460798,16424827,16278398,15824121,15688370,14759258,12704183,12628490,12477932,12220224,11850532,11820781,11745434,10772892,10362653,10359813,10340910,10094960,9889399,9827529,9270026,8894702,15167703 1300327,1598620,1358123 8714 AC004590,AC005921,AJ294545,CH471109,AB010887,AB208954,AF009670,AF083552,AF085690,AF085691,AF085692,AF104943,AF154001,AK000791,NM_003786,BC034683,BC046126,BC050370,BC058907,BC104952,BC137347,BC137348,U83659,Y17151 NP_003777,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,Q86X85,Q96QA9 Hs.463421 GDB:9956721 ABC31|EST90757|MLP2|MOAT-D|MRP3|cMOAT2 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. 1580863 7557451,15297306,18045536,17959747,17939016,17878487,17696930,17682070,17578901,17404579,17229149,17083032,17081983,17003774,16791115,16282361,16156793,15827327,15364914,14643890,12883481,12835412,12792791,12695538,12637526,12523936,12499391,12477932,12105214,11991713,11856762,10470083,9661885,9270026,8894702,2806887,12133003 10257 NM_005845,NM_001105515,AL139381,AL157818,AL356257,AL359750,CH471085,CS223373,AB208973,AF071202,AF071203,AF339763,AF541977,AK290317,AY081219,AY133678,AY133679,AY133680,AY207008,BC041560,BX113883,BX647118,U83660 NP_005836,NP_001098985,CAI16589,EAX08949,EAX08950,EAX08951,EAX08952,CAJ46926,BAD92210,AAC27076,AAC27077,AAN17334,BAF83006,AAL88745,AAN08628,AAN08629,AAN08630,AAO37649,AAH41560,AAB71757,O15439,O75555,Q59GY6,Q8IUA3,Q8IVZ4,Q8IWU1,Q8IZN6,Q8NEW8,Q9BX28 Hs.508423 GDB:9955826 EST170205|MOAT-B|MOATB|MRP4 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. 1580863,1358123 9325169,9827529,15297306,17803828,17540771,17521428,16156793,15861033,15688370,15631998,15146197,14507663,12695538,12646196,12637526,12477932,12388627,10893247,10840050,10737800,10728601,10721709,10438534,10340910,9270026,8894702 1358123 10057 NM_005688,NM_001023587,AC068644,CH471052,AB005659,AB019002,AB209103,AB209454,AF104942,AF146074,AL524917,AW207515,AY196484,AY754874,AY754875,AY754876,BC050744,BC051358,BC142670,BC142719,BE085682,BX647245,CN410200,CN429416,CR590924,CR619835,U66687,U83661 NP_005679,NP_001018881,EAW78306,EAW78307,EAW78308,EAW78309,EAW78310,BAA22887,BAA76608,BAD92340,BAD92691,AAD04169,AAD37716,AAO49801,AAW82948,AAW82949,AAW82950,AAH50744,AAI42671,AAI42720,AAB71758,O15440,Q29ZA9,Q29ZB1,Q59FK6,Q59GK6,Q86UX3,Q86W30 Hs.368563,Hs.707757 GDB:9954943 ABC33|DKFZp686C1782|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11 atp-binding cassette, sub-family c (cftr/mrp), member 5a 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. 1580863,1331525,737772,1549868,1358123 8912525,10835642,18347285,18305351,18253096,18191640,18029147,17880583,17823974,17724214,17617515,17309461,17045963,16835894,16543900,16392638,16374464,16127278,16086317,15996518,15894595,15889270,15760889,15727254,15723264,15645653,15459974,14631379,12901863,12850230,12714611,12673275,12477932,12384774,12176944,11880368,11776382,11702217,11536079,11439001,11431746,11427982,11179012,11058917,10954200,10913334,10835643,10811882,10585762,10493829,10424734,9892204,9721217,9267806,8894702,4841083,3359381 1331525,737772,1549868,1358123 368 NM_001171,NM_001079528,NG_007558,AC136624,CH471226,U91318,AF076622,AF168791,AI074459,AM711638,AM774324,AY078405,BC015978,BC050733,BC131732,CR609146,DC361874 NP_001162,NP_001072996,EAW53950,EAW53951,EAW53952,AAC15785,AAC79696,AAD51293,CAN84639,CAO81806,AAL83711,AAH50733,AAI31733,O95255,Q8TCY8 Hs.442182,Hs.460057 GDB:9315106 ABC34|ARA|EST349056|MLP1|MOATE|MRP6|PXE|PXE1 liver multidrug resistance-associated protein 6 protein-coding 1625838 ABCC6P1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 12477932 653190 XM_001129161,NR_003569,AC136618,BC075833 XP_001129161 Hs.13188 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. 704365,737749,1580863,1598639,1598640,737750,704366,1598635,1625279,1598645 7502040,7716548,18290324,18281290,18162506,18025464,17942822,17942821,17919176,17823772,17668386,17636114,17597441,17593344,17575084,17535866,17516295,17446535,17389331,17378627,17259403,17213273,17207885,17118480,16897043,16885549,16873704,16613899,16429405,16416420,16373383,16357843,15842514,18025408,15840308,15807877,15613469,15579791,15579781,15562009,15356046,15111507,14728986,12941953,12941782,12879777,12540637,12364426,12356945,12213829,12199344,12149601,12118200,11938023,11867634,11825905,11692183,11536079,11318841,11226335,11160857,11018078,10639163,10615958,10506587,10506167,10447255,10338089,10334322,10204114,10202168,9769320,9653196,9648840,9618169,9568693,9519757,9135131,9041101,8923011,8751851,8650576,8630239,7920639,7847376,7716547,12937135,14660679,8635661 704365,737749,1598639,1598640,737750,704366,1598635,1625279,1598645 6833 NM_000352,AC124798,CH471064,L78243,U63455,AB209084,AF087138,AW444836,DB636549,L40625,L78207,R84665,U63421 NP_000343,EAW68436,EAW68437,AAB02417,AAB02418,AAB36700,BAD92321,AAC36724,AAA99227,AAB02278,AAB36699,Q09428,Q59GM5 Hs.54470 GDB:591370 ABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|TNDM2 atp-binding cassette, subfamily c (cftr/mrp), member 8 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. 1580863,1598644,1598645,1598647,1300328 8826984,18026101,16820413,16672225,16563363,16267564,16189514,15339904,15034580,14702039,12934053,12738227,12477932,12356945,12189208,12145195,12107410,11825905,11136227,11054556,11007308,10625598,10498831,10497157,10093054,9755153,9714850,9692785,9457174,8630239 1598644,1598645,1598647,1300328 10060 NM_020297,NM_020298,NM_005691,AC008250,AC084806,AF061323,AF061324,CH471094,AK056519,AK092535,AK094171,BC033804,BX537513,BX640893,CA389699,CR619334 NP_064693,NP_064694,NP_005682,AAC16057,AAC16058,EAW96452,EAW96453,EAW96454,EAW96455,EAW96456,EAW96457,EAW96458,EAW96459,EAW96460,BAC04300,AAH33804,O60706,Q8N4N7,Q8N9N1 Hs.446050 GDB:9954947 ABC37|CMD1O|FLJ36852|SUR2 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. 1580863,1598655 8441467,10551832,18306728,17828604,17761426,17662307,17542813,17504626,16087056,16018167,15781447,15772651,15772093,15643618,15489334,15001567,14767898,14556192,12624723,12579499,12530690,12509471,12477932,12210797,12175782,11992258,11883941,11810273,11798073,11748843,11438993,11248239,10980539,10777694,10737980,10704444,10480364,10369742,10190819,9702690,9286695,9215666,9195223,8651290,8566952,8535452,8520725,8507690,8040304,8004093,8002973,7959759,7904210,7849723,7825602,7811247,7717396,7668254,7581394,6795626,6524872,1746561 1598655 215 CH471172,DQ305405,U52111,Z31348,AY421736,AY421737,AY421738,BC015541,BC025358,CR590818,CR599919,Z21876,NM_000033 NP_000024,EAW72817,ABC41634,CAA83230,AAR07956,AAR07957,AAR07958,AAH15541,AAH25358,CAA79922,P33897,Q2PRN6,Q6TGM0,Q6TGM1,Q6TGM2,ABM81926,ABM85103 Hs.159546 GDB:118991 ABC42|ALD|ALDP|AMN protein-coding 1353939 ABCD1P1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 9215666,8829626 23785 NG_001246,U90290,X82264 GDB:9959523 pseudo 1351336 ABCD1P2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 9215666 26983 U90288,NG_001270,AL133173 GDB:9964138 bA453N3.6 pseudo 1342564 ABCD1P3 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 9215666 26982 NG_001269,AC138915,U90289 GDB:9964140 pseudo 1351987 ABCD1P4 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 10591208,9215666 26957 NG_001265,AP000543,U90291 GDB:9964128 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. 1300329,1580863 10329405,10704444,11883941,10196381,17602313,16344560,16249184,15489334,12477932,10777694,10551832,9345306,9195160,8577752 1300329 225 BC104903,DB259336,BC104901,NM_005164,AC121334,AC125491,AF119822,AF119823,AF119824,AF119825,AF119826,AF119827,AF119828,AF119829,AF119830,AF119831,CH471111,U28150,AJ000327,AK314254 AAI04902,AAI04904,Q9UBJ2,NP_005155,AAD30439,EAW57807,AAB00541,CAA03994,BAG36920 Hs.117852 GDB:7171009 ABC39|ALDL1|ALDR|ALDRP|hALDR 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. 1580863,1300330,1598658 11883941,1301993,17602313,16710414,16344115,12477932,12176987,11453642,11248239,10777694,10551832,10447258,9199576,9126326,8726233,8453064,8449508,1536884,1301179,17353931,16189514,9521874,10704444 1300330,1598658 5825 NM_002858,NM_001122674,AC093117,AC118469,AL138758,CH471097,X83467,BC009712,BC068509,BT006644,BX648715,DC317792,M81182,X58528 NP_002849,NP_001116146,EAW73046,EAW73047,EAW73048,EAW73049,EAW73050,CAA58470,AAH09712,AAH68509,AAP35290,AAA60128,CAA41416,P28288 Hs.700576 GDB:131485 ABC43|PMP70|PXMP1 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. 1580863 9266848,16344560,15909363,15800013,12477932,12111378,9599016,9521874,9302272 5826 NR_003256,NM_005050,AC005519,CH471061,CQ798278,Y14318,Y14322,Y14323,AF009746,AK291332,BC012815,BI916327,BQ893869,BT007412,BX247984,BX248053,CR457104,CR593192,DA713794 NP_005041,EAW81165,EAW81166,EAW81167,EAW81168,EAW81169,EAW81170,EAW81171,EAW81172,CAG26855,CAA74699,AAB83967,BAF84021,AAH12815,AAP36080,CAD62318,CAD62355,CAG33385,O14678,Q86TW9,Q86U29,ABM83773,ABM87093 Hs.94395 GDB:9315118 ABC41|EST352188|P70R|P79R|PMP69|PXMP1L 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. 7539425,11585831,18189233,18006034,16344560,15809757,15489334,15107989,14747530,12600646,12578357,12477932,11780123,9877446,9847332,9660177,8838820,8641422,16275648 6059 NM_002940,NM_001040876,AC096757,CH471056,DQ148409,L24115,AB062293,BC016283,BC016988,BT009779,CR620765,DA218189,X74987,X76388 NP_002931,NP_001035809,EAX05049,AAZ38723,BAB93476,AAH16283,AAH16988,AAP88781,CAA52920,CAA53972,P61221 Hs.12013 GDB:603918 ABC38|OABP|RLI|RNASEL1|RNASELI|RNS4I 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. 1580863 9790762,17894550,17456004,17119950,17081983,16964243,15489334,15345747,15302935,14574404,12477932,10931828,10581359 23 BC112923,NM_001090,AB023052,AB088096,AB103602,AB202093,AC006138,AL662800,AL662825,BA000025,BX000357,BX248518,BX927220,CH471081,NM_001025091,CR388372,CR759778,CR847863,AB209564,AF027302,AL832430,BC016772,BC034488,BI547952,BM556481,BU620927,CR591008,CR606523 NP_001020262,NP_001081,BAC54928,BAF31263,BAE78612,CAI18156,CAI18157,CAI18158,CAI18159,CAI17835,CAI17836,CAI17837,BAB63325,CAI18561,CAI18562,CAI18563,CAM26015,CAM26016,CAM26017,CAM26018,CAQ09057,CAQ09058,CAQ09059,EAX03300,EAX03301,EAX03302,CAQ07871,CAQ07872,CAQ07873,CAQ07874,CAQ09400,CAQ09401,CAQ09402,CAQ10057,CAQ10058,CAQ10059,CAQ10060,BAD92801,AAC70891,CAH10648,AAH16772,AAH34488,AAI12924,Q2L6I2,Q59F96,Q5STZ7,Q5STZ8,Q8NE71,ABM82181,ABM85743 Hs.655285 GDB:9836817 ABC27|ABC50 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. 1580863 9878413,16996567,16203778,15489334,12853948,12690205,12477932,11435397,11124703,10944468,10922475,10581359,8894702 10061 O95324,Q75MJ0,Q75MJ1,Q9UG63 NM_005692,NM_007189,AACC02000108,AC021097,CH471173,AF091073,AF261091,AF261092,AJ005016,AL050291,BC001661,BT007451,CR611017,U66678 ABM83230,ABM86429,Q75MJ1,Q9UG63,NP_005683,NP_009120,EAL24507,EAL24508,AAS00378,AAS00379,EAW54013,EAW54014,EAW54015,EAW54016,EAW54017,AAC72942,AAG13902,AAG13903,CAA06290,CAB43392,AAH01661,AAP36119,O95324,Q75MJ0 Hs.654958 GDB:9954949 ABC28|DKFZp586K1823|EST133090|HUSSY-18|M-ABC1 protein-coding 1321386 ABCF3 ATP-binding cassette, sub-family F (GCN20), member 3 16344560,15489334,14702039,12477932,11435397,8894702 55324 NM_018358,AC131235,CH471052,AK002060,AK024758,AK027288,AK092415,AK097073,AK126150,AK290106,BC009253,BC035652,BC051754,BC051884,CR597756,CR607850,CR616374,DB079392,DC318082 NP_060828,EAW78288,EAW78289,BAA92063,BAB14989,BAC03881,BAF82795,AAH09253,AAH51754,AAH51884,Q9NUQ8 Hs.361323 GDB:9956576 EST201864|FLJ11198 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. 1580863,1300235 16702602,15994327,16870176,17293612,17408620,11500512,16780588,18057374,17848583,17761632,17387528,17241464,17187964,17141191,17121837,17082211,17020879,16902247,16857950,16730733,16357317,16054053,16024918,15584507,15492319,15489334,15240127,14702039,12477932,12032171,11590207,11350058,11279031,11162488,11072082,10950923,10830953,10799558,10639163,9110174,9034316,8703120,8659545,8619474 1300235 9619 X91249,NM_207628,NM_207629,NM_004915,NM_016818,NM_207174,AB038161,AF323658,AJ289137,AP001622,AP001623,AP001746,CH471079,AF038175,AF323660,AF323661,AF323662,AF323663,AF323664,AK092959,AK292152,AL833689,AY048757,BC029158,BX537588,NM_207627 CAA62631,O43576,P45844,ABM82269,ABW03371,NP_997510,NP_997511,NP_997512,NP_004906,NP_058198,NP_997057,BAB13728,AAK28833,AAK28834,AAK28835,AAK28836,AAK28837,CAC00730,BAA95530,EAX09574,EAX09575,AAB97364,AAK28838,AAK28839,AAK28840,AAK28841,AAK28842,BAF84841,AAL06598,AAH29158 Hs.124649 GDB:717078 ABC8|MGC34313|WHITE1 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. 1580863 9850061,18056989,16870176,9861027,18429968,18370855,18309947,18256692,18255023,18245481,18240903,18237272,18221820,18207572,18167504,18159130,18094074,18055445,18042733,17976197,17938643,17938326,17925548,17923155,17916067,17875533,17701580,17690695,17686774,17682070,17671398,17662239,17627617,17622941,17595345,17569884,17534875,17519960,17518356,17505995,17494054,17481587,17460607,17445775,17438106,17434155,17380269,17373578,17347325,17340137,17323127,17312388,17297656,17275084,17273774,17237154,17229149,17228519,17148776,17098188,17032904,16960658,16954373,16847575,16815914,16791115,16749862,16707421,16704962,16618113,16554028,16543472,16528971,16505951,16460798,16445700,16402910,16367905,16343180,16278398,16278376,16160819,16146333,16108826,16086592,16041239,16024622,16008690,15961534,15917307,15906349,15899516,15838659,15813675,15811951,15811555,15807535,15801936,15769853,15670731,15625123,15618737,15607361,15598974,15557326,15489334,15475413,15355921,15260487,15251980,15229462,15208643,15170677,15146167,15044468,15027118,15014037,15014021,15001581,14702039,14613996,14576842,14566825,12960109,12958161,12874005,12810652,12741957,12682043,12668685,12604403,12576456,12479221,12477932,12459192,12438926,12429862,12393637,12374800,12369998,12208758,12145683,12111378,12054514,11986944,11948115,11807788,11801536,11688982,11590207,11566359,11533706,11309308,11306452,10070941,9892175,8894702 9429 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,NM_004827,DQ459567,DQ459614,U66681,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,DQ459612,DQ459613 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 GDB:9956672 ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|MGC102821|MRX|MXR|MXR1 protein-coding 1347632 ABCG3 ATP-binding cassette, sub-family G (WHITE), member 3 10708515,11178751 64007 AF324242 GDB:9993005 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. 1580863 16870176,16902247,15489334,15240127,12477932,12183068,12137944,11856881,11606068,11435397 64137 AP002956,AY055472,CH471065,AJ300465,AJ308237,AJ308251,AK289830,AK290035,AL137563,BC041091,NM_022169 NP_071452,AAL16400,AAL16401,AAL16402,EAW67464,EAW67465,EAW67466,CAC17140,CAC87131,BAF82519,BAF82724,CAB70814,AAH41091,Q8WWH0,Q8WWH1,Q8WWH2,Q9H172,Q9NT30 Hs.126378 GDB:11499731 WHITE2 protein-coding 732219 ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 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. 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. 1300331,1580863,1598659,1558629,1598662,1300236 16870176,11138003,18457353,18007013,17827468,17690481,17626266,17612515,17403900,17102949,17098593,17055487,16980816,16893193,16614398,16518588,16472606,16250035,15980630,15930516,15816807,15611112,15520451,15311998,15262185,15175352,15121760,14703505,14702039,14504269,12477932,12220438,12208868,12208867,12150943,12124998,11907139,11855938,11668628,11590207,11452359,11435688,11099417,9727073 1300331,1598659,1558629,1598662,1300236 64240 AC011242,AC108476,AF404106,AF404107,CH471053,AF312715,AF320293,AK091997,BC111541,BC111542,NM_022436 NP_071881,AAY14703,AAY24010,AAK85387,AAK85388,EAX00286,EAX00287,EAX00288,AAG53099,AAG40003,AAI11542,Q2T9G2,Q53QN9,Q53T83,Q96QZ2,Q96QZ3,Q9H222 Hs.132992 GDB:10450298 STSL protein-coding 732770 ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 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 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. 1300331,1601097,1580863,631968,1558629,1598662,1601095,1601094,1300237 16870176,18457353,18007013,17827468,17690481,17632509,17626266,17612515,17403900,17102949,17098593,17055487,16980816,16893193,16518588,16472606,15930516,15816807,15611112,15520451,15331430,15311998,15262185,15175352,14703505,14504269,12477932,12220438,12208868,12208867,12150943,12124998,12111378,11907139,11893785,11668628,11590207,11452359,11099417 1300331,1601097,631968,1558629,1598662,1601095,1601094,1300237 64241 NM_022437,AC108476,AF351824,AF404106,AF404107,CH471053,AF320294,AF324494,BC113657 NP_071882,AAY24011,AAK84663,AAK85386,AAK85389,EAX00285,AAG40004,AAK84078,AAI13658,Q14CR0,Q96A01,Q9H221 Hs.413931 GDB:10450300 GBD4|MGC142217|STSL atp-binding cassette, sub-family g (white), member 8 protein-coding 1322201 ABHD1 abhydrolase domain containing 1 This gene is a member of the abhydrolase domain containing family 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. The center of each enzyme is an alpha/beta-sheet containing eight strands connected by helices. 15815621,15489334,14702039,12735795,12477932,11922611 84696 NM_032604,AC013403,CH471053,AK074615,AK093447,AY033290,BC028378,BC031868,BC039576,BC056403 NP_115993,AAX93169,EAX00631,EAX00632,EAX00633,EAX00634,AAK44222,AAH31868,AAH39576,Q96SE0 Hs.375791 GDB:11508301 FLJ36128|LABH1 protein-coding 1346003 ABHD10 abhydrolase domain containing 10 737633,1580863 16381901,15489336,15489334,14702039,12477932,11256614,11076863 737633 55347 NM_018394,AC060225,CH471052,AK002204,AL713726,BC014516,CR623900,DB453330 NP_060864,EAW79688,EAW79689,BAA92133,CAD28516,AAH14516,Q9NUJ1,CAL37438 Hs.708240 FLJ11342 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. 16381901,15498874,15489336,15489334,12853948,12477932,12073013,11076863 83451 NM_148912,AC073846,CH471200,AF217971,AF412030,AF412031,AF412032,AY053499,AY053500,BC008251,BC011712,BC067750,BM557977 NP_683710,AAS07472,EAW69642,EAW69643,EAW69644,EAW69645,EAW69646,EAW69647,AAG17214,AAM62312,AAM62313,AAM62314,AAL14848,AAL14849,AAH08251,AAH11712,AAH67750,Q8NFV4,CAL37753,CAL38343,ABM82430,ABM85622 Hs.647045 GDB:11508851 PP1226|WBSCR21 protein-coding 1314604 ABHD12 abhydrolase domain containing 12 16303743,15489334,14702039,12477932,11780052 26090 NM_001042472,AL121772,AL353812,CH471133,AK075023,AK290815,AL117442,BC014049,BQ672998,NM_015600,BQ961739,CR600960,CR604672,CR612220,CR614685,CR617070,CR624082,CR625101 NP_056415,NP_001035937,CAI23474,CAI23475,CAI13761,CAI13762,CAI13763,EAX10088,EAX10089,EAX10090,BAC11357,BAF83504,CAB55927,AAH14049,Q8N2K0 Hs.441550 GDB:11504953 ABHD12A|BEM46L2|C20orf22|DKFZP434P106|dJ965G21.2 chromosome 20 open reading frame 22 protein-coding 1349841 ABHD12B abhydrolase domain containing 12B 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 protein-coding 1318018 ABHD13 abhydrolase domain containing 13 16303743,15489334,15057823,14702039,12477932 84945 NM_032859,NG_007396,AL157762,CH471085,AK027812,AK075195,AK124864,BC018608,BC022566,BC070226,BQ424339,BX647428,CR597257,CR609193 NP_116248,CAH70630,EAX09097,EAX09098,BAB55387,BAC11463,AAH22566,AAH70226,Q7L211 Hs.183528 BEM46L1|C13orf6|FLJ14906|MGC27058|RP11-153I24.2|bA153I24.2 chromosome 13 open reading frame 6 protein-coding 1601874 ABHD14A abhydrolase domain containing 14A 15489334,14667578,12975309,12477932 25864 NM_015407,AC115284,CH471055,AL050015,AY358201,BC002571 NP_056222,EAW65180,CAB43237,AAQ88568,AAH02571,Q9BUJ0 Hs.534400 DKFZP564O243|DORZ1 protein-coding 1603002 ABHD14B abhydrolase domain containing 14B 16303743,15489334,14702039,12477932,11053859 84836 NM_032750,AC115284,CH471055,CQ783024,CQ783152,CS072398,AK075034,AK075112,AK092152,AK096073,BC007234,BC050650,BC056411,BC071931,CR591374,CR593174,CR594095,CR594176,CR597250,CR601284,CR604040,CR606468,CR607238,CR608753,CR611046,CR611150,CR611183,CR611510,CR612921,CR615577,CR616912,CR620456,CR621320,CR621371,CR622247,CR625207,CR626150,CR626819 NP_116139,EAW65178,EAW65179,CAF86231,CAF86358,CAI93536,BAC11366,BAC11408,BAC04696,AAH07234,AAH50650,AAH56411,Q96IU4 Hs.420796 CIB|MGC15429 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. 1580863 17980156,16344560,15489334,14702039,12477932,11922611,9373149,8125298,2843827 11057 BC019248,BC090052,BI459790,BI464471,DB024314,X12433,NM_007011,NM_152924,AC013565,AC124068,CH471101,AF546700,AK000554,AK095685,AK125089,AK127559,AK222841,AK223083,AK290340,AL109729,AL110291,BC017905 AAH19248,AAH90052,CAA30976,P08910,Q8WWD1,ABM82555,ABW03395,NP_008942,NP_690888,EAX02033,EAX02034,EAX02035,AAQ12021,BAD96561,BAD96803,BAF83029,AAH17905 Hs.122337 GDB:9956353 HS1-2|LABH2|MGC111112|MGC26249|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. 15489334,12477932,11922611,9110174,8619474 171586 NM_138340,AC106037,CH471088,AF007152,AK024880,AK024992,BC021196,CR598343,CR605248 NP_612213,EAX01131,AAC19155,AAH21196,Q8WU67 Hs.397978 GDB:11508305 LABH3|MGC11259 protein-coding 1323534 ABHD4 abhydrolase domain containing 4 1580863 16818490,15489334,14702039,12477932 63874 NM_022060,AL160314,CH471078,AK022878,AK024790,BC024779,CR610790 NP_071343,EAW66251,BAB14289,AAH24779,Q8TB40 Hs.445665 FLJ12816 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. 1598668,1580863 18339307,17631826,17495960,17308334,16679289,15967942,15489334,12477932,11590543,10810093,9110174,8619474 1598668 51099 NM_016006,NG_007090,AC105903,AL606838,CH471055,AF007132,AF151816,BC021958,BG721387 NP_057090,CAD12731,EAW64699,AAD34053,AAH21958,Q8WTS1,ABM82101,ABM85283 Hs.19385,Hs.655670 CDS|CGI58|IECN2|MGC8731|NCIE2 protein-coding 1351429 ABHD6 abhydrolase domain containing 6 16344560,15489334,14702039,12477932,9373149 57406 NM_020676,AC098479,AC137936,CH471055,AF225418,AK122983,AK172797,AK225942,BC001698,CR589982,DA266414 NP_065727,EAW65360,EAW65361,EAW65362,EAW65363,EAW65364,EAW65365,AAG09720,BAD18771,AAH01698,Q9BV23,Q9HBL9 Hs.476454 protein-coding 1318921 ABHD7 abhydrolase domain containing 7 737633,1580863 15489334,14702039,12477932 737633 253152 NM_173567,AC104836,AC114486,CH471097,AK074822,BC041475 NP_775838,EAW73105,BAC11230,AAH41475,Q8IUS5 Hs.201555 EPHXRP|FLJ90341 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 737633 79575 NM_024527,AC010463,CH471106,AK021805,AK225140,AK225340,BC007895,BC011536,BC020173,BC039087,CR603220,CR618792,DA137174,DA357595,EU285559 NP_078803,EAW84589,BAB13900,AAH07895,AAH20173,AAH39087,ABZ79723,Q96I13 Hs.515664 FLJ11743|MGC14280|MGC2512 protein-coding 1316262 ABHD9 abhydrolase domain containing 9 1580863 17437806,15489334,14702039,12477932 79852 AK026061,BC115002,BC132958,BC132960,CR619338,NM_024794,AC004257,CH471106 EAW84467,EAW84468,BAB15342,AAI15003,AAI32959,AAI32961,Q9H6B9,NP_079070 Hs.156457 FLJ22408|MGC131519 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. 15164054,15048123,12681507,12672821,12665801,12547160,12522270,12477932,12127568,12011975,11956071,11557983,11418237,11099046,11034908,11003655,10995551,10499589,9694699,1049958,14565974,15696170,9593709,9010225,17101133,17951403,17501982,17081983,16899465,16225669,16182283,15893754,15769844,15657136,15591787,15489334 10006 NM_001012752,NM_001012751,NM_001012750,NM_005470,AJ277065,AL139404,AL390961,CH471072,AB040151,AB209268,AF001628,AF006516,AF260262,AF540955,AK126803,AK291823,BC013238,BC024254,CR622396,U87166 NP_001012770,NP_001012769,NP_001012768,NP_005461,CAB88006,CAI17272,CAI17273,CAI17274,CAI17275,CAI17276,CAI17277,CAI17278,CAI17279,EAW86077,EAW86078,EAW86079,EAW86080,EAW86081,EAW86082,EAW86083,BAB55675,BAD92505,AAD00897,AAB62569,AAF70309,AAN28379,BAF84512,AAH24254,AAC39757,Q59G41,Q5W067,Q5W068,Q5W069,Q5W071,Q5W073,Q5W074,Q8IZP0 Hs.508148 ABI-1|E3B1|NAP1BP|SSH3BP|SSH3BP1 protein-coding 1351473 ABI1P abl-interactor 1 pseudogene 326268 NG_002531,AL138499 SSH3BP1P pseudo 1353143 ABI2 abl interactor 2 1580863 7590236,8649853,12011975,11516653,17101133,17389688,16488906,15489334,15146197,14702039,12477932,10995551,10964520,10498863,12569093,16189514,10858458,15509564,12463424 10152 NM_005759,AC018891,AC080075,CH471063,AF085867,AF260261,AK054863,BC001439,BC033944,BT009920,CN371368,CR606036,DB455742,U23435,U31089,X95632 NP_005750,AAY14675,AAY14935,EAW70335,EAW70336,EAW70337,EAW70338,EAW70339,EAW70340,EAW70341,EAW70342,EAW70343,AAF70308,AAH01439,AAP88922,AAA92289,AAA75446,CAA64885,Q13802,Q53RS4,Q53SH3,Q9NYB9,ABM81661,ABM84833 Hs.471156 ABI-2|ABI2B|AIP-1|AblBP3|SSH3BP2|argBPIA|argBPIB protein-coding 1323432 ABI3 ABI gene 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. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. 15489334,12477932,12011975,11230166,11076863,10978530,11501947,11956071,17101133,16381901,16189514,15489336 51225 NM_016428,AC004797,AC069454,CH471109,AB037886,AL136709,BC007780,CR608488,CR621565 NP_057512,EAW94687,BAA90667,CAB66644,AAH07780,Q0JUL1,Q0JV03,Q9P2A4,CAL37657,CAL37800,ABM84016,ABM87361 Hs.130719 NESH|SSH3BP3 protein-coding 1349467 ABI3BP ABI gene family, member 3 (NESH) binding protein 16205947,15752759,15489334,14702039,12477932,11501947,16189514 25890 NM_015429,AC068763,AC069223,AC080014,AC093009,AC106721,CH471052,AB056106,AK025204,AK093861,AK123737,AK123748,AL117664,AL162038,AL833204,BC030221,BX648726 NP_056244,EAW79804,EAW79805,EAW79806,EAW79807,EAW79808,EAW79809,EAW79810,EAW79811,BAB32867,BAB15083,BAC85685,BAC85687,CAB56034,CAI46190,AAH30221,Q5JPC9,Q7Z7G0,Q9H717 Hs.477015 FLJ41743|FLJ41754|NESHBP|TARSH 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. 1580863,1598673 17604596,17599053,17597804,17587335,17579186,17570524,17541395,17525531,17486070,17470736,17470729,17374743,17366548,17349636,17347407,17339230,17303698,17268511,17252009,17237826,17196995,17192257,17160020,17126298,17101133,17081983,9144171,8242749,11971963,10391249,12893824,12944467,18369471,18262060,18180382,18161990,18095154,18089786,18082628,18059481,18036399,17928051,17925491,17893873,17804707,17768119,17764157,17762503,17761812,17710227,17695727,17638918,17623672,17620332,16998483,16966279,16912036,16899465,16867995,16678104,16636310,16630659,16543148,16448696,16410245,16386788,16205638,16199863,16158059,16151465,16151024,16091742,16014719,15961388,15857938,15735728,15723338,15716990,15696159,15686624,15661746,15657136,15657060,15626746,15608616,15591787,15588985,15583852,15542838,15481444,15361874,15175272,15143187,14993251,14966468,14745431,14679214,14670960,14657955,14581377,14534537,14527680,12952226,12950161,12928501,12921956,12890867,12824179,12810679,12781448,12777400,12777393,12764153,12672821,12665579,12663457,12654250,12650908,12637538,12623848,12573241,12569093,12560071,12556557,12525554,12522270,12505259,12477932,12475393,12468540,12445832,12408765,12393636,12384576,12379650,12374739,12374288,12220663,12198159,12149456,12144533,12138893,12130516,12130510,12110584,12024016,12021275,11956190,11955625,11891774,11853795,11840343,11781820,11780146,11741929,11708318,11598012,11593427,11509666,11494134,11494128,11423618,11420673,11418237,11390389,11380621,11375976,11374898,11350980,11309382,11279131,11278340,11266449,11163214,11121037,11120811,11024037,11021760,10988075,10970852,10945997,10896159,10892742,10713716,10708759,10679771,10637231,10635328,10629029,10574931,10567556,10488096,10455176,10391251,10391250,10212258,10194451,10187839,9949177,9798959,9698566,9642287,9632734,9603926,9593709,9583676,9516488,9480911,9461559,10849448,10777567,9407116,9356459,9334312,9315092,9312071,9211900,9168117,9168116,9111318,9067577,9010225,8943360,8879209,10571082,8875975,8692915,8668151,8668148,8630736,8629002,8590002,8453102,8438166,8194526,8114715,7892170,7828850,7780740,7760813,7665185,7590236,7545908,7533294,7512963,7493940,6323103,6319012,6316147,6302194,6281890,6191223,4062888,3471171,3313010,3023859,3021337,2989703,2989692,2825022,2687768,2678002,2542016,2193202,2183353,2163052,1868241,1857987,1538749,1505033,1383690,1379745,1281542,9774693,9747873,8978305,8083188,7926767,7565761,12543778,1712671,10608806,8810278,9071815,8294442,12681507,15886098,15735735,9632788 1598673 25 NM_005157,AL161733,AL359092,CH471090,DQ145721,K00009,M13099,M25949,S69223,U07563,AA524892,AB209456,AB209642,AF113911,AJ131466,AL707819,BC107069,BC107070,BC117451,NM_007313,CR598308,CR614023,EU216066,EU216071,M14752,M14753,M14754,M25946,M30833,X16416,CA335983 NP_009297,NP_005148,CAM45754,CAM45755,CAM45756,EAW87947,EAW87948,EAW87949,AAZ38718,AAA51895,AAA51896,AAA35593,AAD14034,AAB60393,AAB60394,BAD92693,BAD92879,AAD04633,Q59F19,Q59FK4,Q3B837,CAA10376,AAI07070,AAI07071,AAI17452,ABX82708,ABX82713,AAA51561,AAA51562,AAA51563,AAA35697,AAA88011,AAA88012,CAA34438,P00519,Q13688,Q13689,Q13690,Q13691,Q13848,Q13914,Q13915,Q14020,Q17R61,Q3B836 Hs.431048 GDB:119640 ABL|JTK7|bcr/abl|c-ABL|p150|v-abl 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) The gene product is a cytoplasmic tyrosine kinase which is closely related to but distinct from ABL1. The similarity of the proteins includes the tyrosine kinase domains and extends amino-terminal to include the SH2 and SH3 domains. This gene is expressed in both normal and tumor cells. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. 1580863 15886098,12893824,2198571,17192257,17081983,16710414,16678104,16344560,15729383,15679048,15489334,14702039,12950161,12777400,12748290,12569093,12522270,12477932,12374288,12220663,12198159,11956190,11494128,11278261,9642287,9480911,9373149,9211900,8875975,8700546,8125298,3787260,1383690,9774693,15735735 27 NM_007314,NM_005158,NM_001100108,AL139132,AL359179,AL512326,CH471067,DQ009672,M14904,AK025877,AK056280,AK123435,AK225255,BC065912,BX538317,DA596675,DB280398,M35296 NP_009298,NP_005149,NP_001093578,CAH70921,CAH70925,CAI15584,CAI15585,EAW91040,EAW91041,AAY16984,AAH65912,CAD98092,AAA35553,P42684 Hs.159472 GDB:119641 ABLL|ARG|FLJ22224|FLJ31718|FLJ41441 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. 1580863 9245787,16189514,17081983,16094384,15592455,15570572,15489334,15324660,15302935,15144186,15024025,14702039,12477932,12168954,9417918,8889548,7584044,7566098,15778465 3983 AL712271,AW627433,BC002448,BE395092,BE672277,BG426037,BQ721521,CA450184,CB128609,CD558045,CR749819,D31883,NM_001003408,NM_002313,NM_006720,NM_001003407,AL133384,AL354873,AL590109,CH471066,AA314019,AF005654,AI680726,AK054890,AK057834,AK058007,AK093471,AK098277,AK122891,AL600892,AL710059 AAH02448,CAH18679,BAA06681,O14639,Q5JVU6,Q5JVV0,Q5JVV1,Q5JVV2,Q5T6N2,Q5T6N3,Q5T6N5,Q5T6N6,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 Hs.438236,Hs.538331,Hs.593868 GDB:7173461 ABLIM|DKFZp781D0148|FLJ14564|KIAA0059|LIMAB1|LIMATIN|MGC1224 protein-coding 1349528 ABLIM2 actin binding LIM protein family, member 2 17194709,16005990,15489334,14702039,12477932,11347906,9847074 84448 NM_032432,AC097381,AC104650,AC114807,CH471131,AB058711,AJ748600,AJ748601,AK094754,AK094798,AK097003,AL834195,BC067214,BC122567,DB499366,DB570494,DQ413176,DQ413177 NP_115808,AAY40931,EAW82357,EAW82358,EAW82359,BAB47437,CAG38375,CAG38376,BAC04414,BAC04427,CAD38885,AAH67214,AAI22568,ABD83329,ABD83330,Q08E71,Q19VH0,Q19VH1,Q4W5G4,Q6H8Q1 Hs.233404 GDB:11510527 DKFZp761F129|FLJ39684|KIAA1808|MGC141918 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 15221005,12477932,11230166,11076863,10048485,9373149,8125298,17194709,17081983,16381901,16328021,15489336,15489334,15342556,15337165 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,Q0JS19,Q0JS46,Q0JS82,Q0JS83,Q0JSB6,Q0JSI0,Q0JSI3,Q0JSS4,Q0JSS8,Q0JST3,Q0JSW3,Q0JT55,Q0JT64,Q0JT85,Q0JTK0,Q0JTY1,Q0JU17,Q0JU32,Q0JU34,Q0JUD5,Q0JUH0,Q0JUK1,Q0JUK3,Q0JUP3,Q0JUT7,Q0JUT9,CAL37473,CAL37581,CAL37722,CAL37724,CAL37743,CAL37768,CAL37808,CAL37810,CAL37841,CAL37876,CAL37977,CAL37979,CAL37994,CAL38031,CAL38039,CAL38101,CAL38162,CAL38196,CAL38279,CAL38283,CAL38290,CAL38300,CAL38309,CAL38401,CAL38431,CAL38436,CAL38440,CAL38531,CAL38534,CAL38558,CAL38598,CAL38631,CAL38632,CAL38668,CAL38695 Hs.49688 HMFN1661 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. 1580863 14516453,12829588,12786998,12760254,12673421,12587416,12560669,12529355,12519432,12477932,12198488,12151392,11998221,11961233,11939260,11856466,11520811,11436564,11398963,11345596,11061869,10666229,10462501,9800297,9325321,9175793,8928487,8873422,8839869,8641696,8484250,8456556,7779106,7772867,7598760,7488159,6770676,5442829,4831233,4831223,2333095,2121736,2104828,2104827,1449469,1429528,618875,184030,18426679,1520322,18387978,18273824,18247104,18215251,18173836,18156754,18078207,18067502,18067076,18063521,18028481,18027815,18003641,17994314,17764507,17642512,17531777,17393014,17311872,17298125,17259183,17209060,17140342,17130965,17119126,17107352,17076855,17036929,17002642,16956829,16871363,16859949,16722361,16686845,16631357,16403294,16239542,16215642,16181218,16176058,16081582,16008680,15987364,15880137,15847653,15819691,15819453,15783300,15754970,15751650,15735796,15648786,15606555,15300625,15166945,15104652,15009807,14979340,14750174,14617382,14569463 28 AF134413,AF134414,AF134415,AF134416,AV761252,AY579471,AY727862,BC069595,BC069605,BC069814,BC111575,DQ139865,J05175,S44054,U15197,AF134412,NM_020469,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,AF170892,AF170893,AF182746,AF182747,AF182749,AF324006,AF324007,AF324008,AF324009,AF324010,AF324011,AF324012,AF324013,AF324014,AF324016,AF324017,AF324018,AF324019,AF324020,AJ536132,AJ536134,AJ536135,AJ536136,AJ536137,AJ536138,AJ536139,AJ536148,AJ536150,AJ536152,AJ536153,AJ920329,AJ973608,AL158826,AL732364,AM040939,AM231715,AY268591,AY336599,AY373436,AF170889,AF408431,AF448199,AF448200,AJ276686,AJ276687,AJ276688,AJ276689,AJ426048,AF324015,AJ426063,AJ426064,AJ536122,AJ536123,AJ536124,AJ536125,AJ536126,AJ536127,AJ536128,AJ536129,AJ536130,CH471090,D82835,D82836,D82837,D82838,D82839,D82840,D82841,D82842,D82843,AY377125,AY442168,AY510089,AY512679,AY513233,AY590127,AY611640,AY611641,AY720844,AY720850,AY720852,AY805749,AY805750,AJ536131,D82844,D82845,DQ092379,DQ092380,DQ092381,DQ100313,DQ124678,DQ124679,DQ321372,DQ321373,DQ323500,DQ323501,DQ323502,DQ323503,DQ407740,EU366315,U15198,U22302,X84746,AF062487,AF134418,AF134420,AF134422,AF134424,AF134426,AF134428,AF134430,AF134432,AF134434,AF134440,AF170888 AAD26572,AAD26573,AAD26574,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,Q53I57,Q56S51,Q56S52,Q56S53,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,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,Q8WXZ2,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,AAD51649,AAD51651,AAD51652,AAF07060,AAF13183,AAF13184,AAL37338,AAL37339,AAL37340,AAL37341,AAL37342,AAL37343,AAL37344,AAL37345,AAL37346,AAL37347,AAL37348,AAL37349,AAL37350,AAL37351,CAD60218,CAD60219,CAD60221,CAD60222,CAD60223,CAD60224,CAD60225,CAD60226,CAD60235,CAD60237,CAD60239,CAD60240,CAI79116,CAJ00555,CAJ13827,CAJ77763,AAP03430,AAP97075,AAR20996,AAL37352,AAN02512,AAQ04662,AAQ04663,CAB81776,CAB81777,CAB81778,CAB81779,CAD22451,CAD19818,CAD19819,CAD60209,CAD60210,CAD60211,CAD60212,CAD60213,CAD60214,CAD60215,CAD60216,CAD60217,EAW88054,BAA11584,BAA11585,BAA11586,BAA11587,BAA11588,BAA11589,BAA11590,BAA11591,AAR24575,AAS00500,AAR98522,AAS16482,AAR97889,AAT01605,AAW31606,AAW31607,AAX58609,AAX58612,AAX58613,AAX39008,BAA11592,BAA11593,BAA11594,AAY98421,AAY98422,AAY98423,AAZ28944,AAZ32763,AAZ32764,ABC59309,ABC59310,ABC41115,ABC41116,ABC41117,ABC41118,ABD66591,ABY67384,AAC13777,AAC50121,CAA59233,AAX39009,AAC99327,AAC99328,AAD26575,AAD26576,AAD26577,AAD26578,AAD26579,AAD26580,AAD26581,AAD26582,AAD26583,AAD26584,AAD51648 Hs.654423 GDB:118956 A3GALNT|A3GALT1|GTB|NAGAT 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. 1298636,1580863,1300048 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 1298636 26 NM_001091,AACC02000108,AC006343,AY948960,CH471173,X78212,AK092514,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,AAH14093,AAA58358,AAC50270,AAB60381,P19801,Q9HBM7 Hs.647097 GDB:127105 ABP|AOC1|DAO|DAO1|KAO amiloride binding protein 1 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. 1580863 8262969,15525470,14702039,12621583,11921339,8889548,8349582,7829075,7479768,2587217 29 NM_021962,NM_001092,AC015884,AC016292,CH471108,L19704,L19705,AI763107,AK094544,AK124547,AK126882,BC036807,BM827672,CB153196,CF135918,CR624267,U01147,AK127851 BAC86734,NP_068781,NP_001083,EAW90631,EAW90632,EAW90633,EAW90634,EAW90635,AAC37519,AAC37518,AAC50063,Q12979,Q6ZT60,AAI56484 Hs.159306 GDB:119642 FLJ45954|MDB protein-coding 1603582 ABRA actin-binding Rho activating protein 11230166,11076863,11256614,17415416,16381901,15798203,15489336,15489334,14702039,12477932,11983702 137735 NM_139166,AC023344,CH471060,AF503617,AK092694,AL832152,AL833422,BC105103,BC105105 NP_631905,EAW91907,AAM27268,BAC03948,AAI05104,AAI05106,Q0JU70,Q8N0Z2,CAL37941 Hs.374668 STARS 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. 1580863 10648625,15635413,15489334,14574404,12477932,11790298 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 GDB:9993007 hABT1 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. 1580863 15498874,15489334,15231748,14702039,12477932,11494141,10891360,16189514 80325 NM_032548,NM_172027,NM_172028,AC023593,CH471052,AB053324,AB053325,AB053326,AF297986,AF447886,AK090422,AK090509,AK098738,AK130594,BC011858 NP_115937,NP_742024,NP_742025,EAW79333,EAW79334,EAW79335,EAW79336,BAB55648,BAB55649,BAB55650,AAK57478,AAQ04661,BAC03403,BAC85392,AAH11858,Q8NF57,Q969K4 Hs.107812 GDB:11505581 BPOZ|Btb3|EF1ABP|MGC20585|PP2259 protein-coding 733617 ABTB2 ankyrin repeat and BTB (POZ) domain containing 2 1580863 15489334,14702039,12477932 25841 NM_145804,AC090469,AL035079,AL133294,AL139174,CH471064,AK056863,AK091560,AK095632,AK291744,AL050374,BC093968,BX640841 NP_665803,EAW68172,EAW68173,BAC03697,BAC04595,BAF84433,AAH93968,CAE45913,Q8N961 Hs.23361 DKFZP586C1619 protein-coding 69012 ACAA1 acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) Acetyl-Coenzyme A acyltransferase (ACAA1) is an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome 1300048,1580863 1679347,16385653,15489334,14621081,12477932,11418601,10960480,10231028,9110174,8619474,7750978,3194209,2882519,2726492,2630187 30 X65148,NM_001607,AP006309,CH471055,X65140,AF035295,AK025138,AK127051,BC000635,BC011977,BC014474,BC025780,BC039837,CR591578,CR594169,CR595862,CR598152,CR600577,CR603602,CR605477,CR607199,CR607231,CR608061,CR609571,CR610044,CR610125,CR612027,CR612253,CR612814,CR613357,CR618847,CR625217,CR625245,CR626439,CR626521,X12966,X14813,X51460 NP_001598,EAW64513,EAW64514,EAW64515,EAW64516,EAW64517,EAW64518,CAA46270,CAA46271,AAB88181,AAH00635,AAH11977,AAH14474,CAA31412,CAA32918,CAA35825,O43203,P09110,Q8NCW8,Q96CA6,ABM82224,ABM84272,ABM85408 Hs.706758 GDB:119643 ACAA|PTHIO|THIO 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. 1580863 8241273,15489334,15242332,14702039,12477932,10856712,9373149,8125298,16189514 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,BAG37070,AAH01918,BAA03800,P42765,ABM84302,ABM87696 Hs.200136 GDB:9957042 DSAEC|FLJ35992|FLJ95265 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. 1580863,1300332,1625727,1300238,1300048 7905825,16326698,18056116,18031993,17631500,17521700,17372234,17081983,16713569,16698035,15607423,15333468,15302935,14643797,12810950,12477932,12360400,11052978,10737800,10677481,7915280,7907095,7732023,2906852,2900140,2900138 1300332,1625727,1300238 31 AY315625,AY315626,AY315627,BC031485,BC041598,BC137287,BF154865,CF454424,CR598320,CR607505,CR614552,CR626022,U19822,AY315624,NM_198834,NM_198839,NM_198836,NM_198837,NM_198838,AC003103,AC016482,AC068400,AY315616,AY315617,AY315618,CH471199,AB209325,AJ534888,AJ534889,AJ564444,AK129523,AY237919,AY315619,AY315620,AY315621,AY315622,AY315623 AAP94119,AAP94120,AAP94121,AAP94122,AAH31485,AAI37288,AAC50139,Q13085,Q59FY4,Q7Z562,Q7Z565,Q7Z5W8,NP_942131,NP_942136,NP_942133,NP_942134,NP_942135,AAP94113,EAW57576,EAW57577,EAW57578,EAW57579,EAW57580,EAW57581,EAW57582,EAW57583,BAD92562,CAD59556,CAD59557,CAD92089,AAP69841,AAP94114,AAP94115,AAP94116,AAP94117,AAP94118 Hs.160556 GDB:120534 ACAC|ACC|ACC1|ACCA 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. 1304207,1580863,1300333,1625727,1300239,1300048 16054041,15060529,18031993,17521700,17223360,16854592,15590647,14627750,12477932,12413941,12086953,10677481,9284908,9099716,8876158,8670171 1304207,1300333,1625727,1300239 32 AC007637,NM_001093,CH471054,AB209110,AJ575431,AJ575592,AY382667,BC009753,BC028417,CB269093,CB269579,CR626281,DB567934,DQ493870,R99037,U34591,U89344 NP_001084,EAW97852,EAW97853,EAW97854,EAW97855,BAD92347,CAE01470,CAE01471,AAR37018,AAH28417,ABF48723,AAC50571,AAB58382,O00763,Q4G170,Q59GJ9 Hs.234898 GDB:5200247 ACC2|ACCB|HACC275 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 ACAD10 is a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which play a role in mitochondrial fatty acid beta-oxidation (Ye et al., 2004 [PubMed 15560374]). See ACAD8 (MIM 604773) for background information.[supplied by OMIM] 15560374,14702039,12477932 80724 AK092356,AK097425,AL832043,AY323912,BC003698,BC015056,BC054886,BC126358,CR591627,NM_025247,AC002996,CH471054 EAW97971,BAC03869,BAC05046,AAQ88260,AAH15056,AAI26359,Q6JQN1,NP_079523,EAW97961,EAW97962,EAW97963,EAW97964,EAW97965,EAW97966,EAW97967,EAW97968,EAW97969,EAW97970 Hs.331141 MGC5601 protein-coding 1604580 ACAD11 acyl-Coenzyme A dehydrogenase family, member 11 14561759,16344560,15489334,14702039,12477932,12056414 84129 NM_032169,AC020632,CH471052,AI091999,AJ608287,AK022654,AK131265,AL832873,AL833721,BC019607,BC125204,BC125205,CR596046,CR611845,DA804241 NP_115545,EAW79193,EAW79194,EAW79195,CAE55233,BAB14158,BAD18443,CAH56354,CAH56228,AAH19607,AAI25205,AAI25206,Q08AE9,Q709F0 Hs.170737,Hs.441378 FLJ12592|MGC150619 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 10524212,17387528,16806233,15489334,14752098,14702039,12477932,12359132,11013134,10235267 27034 NM_014384,AF260689,AP000859,CH471065,AB209538,AF126245,AK000359,AK026243,AK074640,AK125373,BC001964,BI549961,CR608679 NP_055199,AAF97922,EAW67833,EAW67834,EAW67835,BAD92775,AAF12736,BAA91109,BAC11107,BAC86149,AAH01964,Q59FC2,Q6ZUS0,Q6ZWP6,Q9UKU7,ABM82019,ABM85201 Hs.14791 GDB:10795876 ACAD-8|FLJ22590 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 17672918,17564966,16750164,16020546,15489334,14702039,12971426,12477932,12359260 28976 NM_014049,AC112484,CH471052,AB209427,AF078854,AF327351,AK022568,AK024012,AK027186,AK130311,BC001817,BC007970,BC013354,BC041572,CR613592,CR615785 NP_054768,EAW79293,EAW79294,EAW79295,EAW79296,BAD92664,AAD44486,AAL56011,BAB14104,BAB14775,AAH01817,AAH07970,AAH13354,Q59FN3,Q9BUX5,Q9H845,Q9H9W4,Q9UNZ4,ABM84442,ABM87494 Hs.567482 ACAD-9|FLJ23533|MGC14452|NPD002 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. 1304195,1580863,704409,1300048 8739959,4022672,2000272,1774065,1607358,1559716,1438359,1945557,12477932,10832093,9714723,9003458 1304195,704409 33 NM_001608,AC006994,CH471063,BC039063,BC064549,CR592258,DC350098,M74096 NP_001599,AAY14881,EAW70481,AAH39063,AAH64549,AAA51565,P28330,Q8IUN8,ABM81711,ABM84867 Hs.471277 GDB:118745 ACAD4|LCAD acetyl-coenzyme a dehydrogenase, long-chain 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. 1300334,1580863,704409,1300048 2393404,1731887,18241067,17539907,17186412,16917729,16617240,16291504,16236267,16128823,15902558,15896661,15832312,15489334,15171999,14970748,14692513,12914524,12562916,12522104,12477932,11517203,11486912,11409868,11349232,11263545,10767181,9487154,9484241,9158144,8823176,8198141,7929823,7608198,7603790,6857268,3786030,3597357,3462713,3035565,2394825,2251268,1902818,1729890,1684086,1679031,1671131,1363805,16189514,9882619 1300334,704409 34 NM_001127328,AL357314,CH471059,M60505,M91432,U33947,AF251043,AK309843,AK311022,AK311185,AK312629,BC005377,BI789086,BX647734,CR596485,CR620592,DB453314,DB537134,M16827,NM_000016 NP_000007,NP_001120800,CAI22389,CAI22390,EAX06399,EAX06400,EAX06401,AAB59625,AAA59567,AAF63626,BAG35514,AAH05377,CAI45986,AAA51566,P11310,Q5HYG7,Q5T4U4,Q5T4U5,ABM83267,ABM86636 Hs.445040 GDB:118958 ACAD1|FLJ18227|FLJ93013|FLJ99884|MCAD|MCADH acetyl-coenzyme a dehydrogenase, medium chain 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. 1580863,1300335,1300239,1300048 8276399,16729965,18184946,18054510,18045290,16376132,15902559,15489334,12706374,12477932,12220177,11134486,9499414,9383286,8889548,8503850,2565344,1692038,1286669 1300335,1300239 35 NM_000017,AC069234,CH471054,U83992,Z80345,Z80347,BC025963,BU682624,CR596637,CR600438,CR604877,CR606773,CR607224,CR608104,CR613358,CR613518,CR615642,DB487184,M26393 NP_000008,EAW98218,AAD00552,CAB02492,AAH25963,AAA60307,P16219,ABM83110,ABM86304 Hs.507076 GDB:118959 ACAD3|SCAD short chain acyl-coenzyme a dehydrogenase 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 7698750,17143180,16344560,16331964,16331963,16317551,15489334,12855692,12477932,11013134,10832746,7759115 1300336,704409 36 NM_001609,AC012391,AC073585,AF260678,AL731666,CH471066,AL831821,BC013756,BC020931,BC032395,BC045723,BE875638,CR612602,DA964130,U12778 NP_001600,AAF97921,CAI10847,EAW49291,CAD38535,AAH13756,AAH20931,AAA74424,P45954,Q5SQN6,Q8WUC4 Hs.81934 GDB:388699 2-MEBCAD|ACAD7|SBCAD 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. 704409,1580863,1300337,1300048,1300240 8466512,7479827,7668252,18156936,17999356,17514507,17457695,17374501,16464760,15489334,14702039,14611808,12609736,12477932,11158518,10790204,10077518,9973285,9709714,9599005,9546340,9373149,8921384,8845838,8554625,8554073,8125298,7769092 704409,1300337,1300240 37 NM_000018,NM_001033859,AC120057,AJ012053,CH471108,D78298,L46590,AA643658,AK056083,AK056956,AK058109,AK097243,AK222518,AL536186,BC000399,BC012912,AF244932,BC020218,BI822737,CR594516,CR615522,CR625925,D43682,X86556 NP_000009,NP_001029031,EAW90246,EAW90247,EAW90248,EAW90249,EAW90250,BAA29057,AAA79002,BAD96238,AAH00399,AAH12912,AAH20218,BAA07781,CAA60253,P49748,Q53HR2 Hs.437178 GDB:1248185 ACAD6|LCACD|VLCAD 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. 1300269,1580863 1569188,18040638,17632389,17588949,17568421,17261541,16741449,16650460,16574327,16537531,16425147,16402214,16344560,16335952,16080123,16001263,15590670,14724283,14722076,14627072,14558103,12888576,12477932,12205105,12054629,11932252,11898616,11854269,11038354,10922468,10400671,9756610,9688535,9654129,9013976,8921002,8611178,8314595,8216228,7998967,7827755,7626017,7574678,7524681,7240256,2789216,1985970,1326552,15505028 1300269 176 NM_013227,NM_001135,AC103982,CH471101,CS025622,L29488,S74659,AK290723,BC036445,BQ182050,BQ446640,DA596050,J05062,M55172,U13192,X17406,X80278 NP_037359,NP_001126,EAX02017,EAX02018,EAX02019,EAX02020,EAX02021,CAI61688,AAB48068,AAC60643,BAF83412,AAH36445,AAA35726,AAA62824,CAA35463,P16112,Q6LE94,Q6PID9 Hs.2159,Hs.616395,Hs.654507 GDB:127479 AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK aggrecan 1 protein-coding 737017 ACAT1 acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. This gene spans approximately 27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. 704409,1300338,1300048,1580863,1300240 1979337,3709573,17353931,1715688,18393248,18000807,17691824,17371050,17236799,16935016,15242332,15158756,15128923,12754704,12477932,9744475,9700610,9607396,9380443,8103405,7907600,7749408,7728148,7173255,4690360,1684944,1627655,1351831,1346617 704409,1300338,1300240 38 NM_000019,AP002433,CH471065,D10511,AF086561,BC010942,BC063853,D90228 NP_000010,EAW67103,EAW67104,EAW67105,BAA01387,AAH10942,AAH63853,BAA14278,P24752,Q6P3T4,Q96FG8 Hs.232375 GDB:126861 ACAT|MAT|T2|THIL 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. 1298605,1581921,1556516,1601111,1601112 16195894,17353931,7911016,18269457,18000807,17950700,17919884,2475872,12518221,15733928,15489334,15342556,15158756,14702039,14574404,14557872,12621162,12477932,9373149,8812443,8125298,6150136 1298605,1581921,1556516,1601111,1601112 39 AL135914,CH471051,AB208993,AF356877,AK055001,AK225089,AK225244,AK291080,BC000408,BM997310,BP210609,CR590182,CR592880,CR602774,CR603383,CR605843,CR616356,CR617627,S70154,NM_005891 NP_005882,CAI21850,EAW47619,EAW47620,BAD92230,AAM00223,BAF83769,AAH00408,AAB30856,Q59GW6,Q9BWD1 Hs.571037 GDB:321951 acetyl-coenzyme a acetyltransferase 2 (acetoacetyl coenzyme a thiolase) 2289445 BW415_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. 1580863 17711851,16870622,16710414,15489334,15231748,14702039,12692076,12665801,12477932,11731621,11590181 64746 NM_022735,AL592045,CH471098,AB043587,AF020762,AK025520,AK057118,AY150218,BC034563,BC039575,BC045533,BC060792,CR590509 NP_073572,CAH71922,EAW69775,EAW69776,BAB20592,AAB97675,BAB15159,AAN60219,AAH34563,AAH45533,AAH60792,O43466,Q9H3P7 Hs.520207 GCP60|GOCAP1|GOLPH1|PAP7 protein-coding 1318153 ACBD4 acyl-Coenzyme A binding domain containing 4 15489334,15221005,14702039,12477932 79777 NM_024722,AC142472,CH471178,AB073387,AK023384,AK075104,BC022000,BC029164,BC041143 NP_078998,EAW51548,EAW51549,EAW51550,EAW51551,EAW51552,BAD38638,BAB14553,BAC11403,AAH29164,AAH41143,Q8NC06 Hs.110298 FLJ13322|FLJ90623|HMFT0700 protein-coding 1319743 ACBD5 acyl-Coenzyme A binding domain containing 5 1580863 14702039,12477932,12056414 91452 NM_001042473,NM_145698,AL160291,CH471072,AB082527,AF505653,AK057469,AL133064,BC011364,BC025309,BC030555 NP_001035938,CAI16911,CAI16912,CAI16913,CAI16914,CAI16915,CAI16916,EAW86059,EAW86060,EAW86061,EAW86062,EAW86063,BAC02705,AAP30852,CAB61388,NP_663736,AAH30555,Q5T8D3,Q5T8E0,Q8NCM9 Hs.530597 DKFZp434A2417|KIAA1996 protein-coding 1312817 ACBD6 acyl-Coenzyme A binding domain containing 6 737633,1580863 16710414,15489334,12477932 737633 84320 Q9BR61 NM_032360,AL139141,AL358354,AL445469,CH471067,BC006505,CR596110,CR596874,CR597133,CR602338,CR616957,CR617242,CR626583 NP_115736,CAI19365,CAI15093,CAH71747,EAW91082,EAW91083,EAW91084,AAH06505,Q9BR61 Hs.200051 MGC2404 protein-coding 1350250 ACBD7 acyl-Coenzyme A binding domain containing 7 15489334,15164054,14702039,12477932 414149 NM_001039844,AL590365,CH471072,AK095538,BC029526,BX114172 NP_001034933,CAH73964,EAW86243,AAH29526,Q8N6N7 Hs.644598 FLJ38219|MGC33893|bA455B2.2 protein-coding 737359 ACCN1 amiloride-sensitive cation channel 1, neuronal (degenerin) 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. 1298644,1300338,1580863,1300241 8626462,11802773,17553932,17548344,17534430,17376794,16704974,15504740,15489334,15471860,12477932,11739374,10842183,9360943,9037075,8921408,8631835 1298644,1300338,1300241 40 NM_001094,NM_183377,AC003687,AC004147,AC008133,AC011824,AC015751,AC024610,AC024614,AC025898,AC027233,AC078907,AC123769,CH471147,AK127748,AL834182,BC075042,BC075043,U50352,U53212,U57352 NP_001085,NP_899233,EAW80216,CAD38879,AAH75042,AAH75043,AAC50432,AAC50498,AAB49182,Q16515,ABZ92042 Hs.368417 GDB:4645366 ACCN|ASIC2|ASIC2a|BNC1|BNaC1|MDEG|hBNaC1 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. 1298544,1300339,1580863,1300242 11802773,9062189,9037075,18349698,17984098,17548344,17443677,17392378,17324378,15576453,15574747,15489334,15471860,15247234,14988500,12578970,12477932,12393854,12244121,11988176,11748227,11739374,11512022,11448963,10798398,10362604,9360943,8685718 1298544,1300339,1300242 41 NM_020039,NM_001095,AC025154,CH471111,AK290010,BC013891,BC028722,BC133707,EU078959,U78180,U78181 NP_064423,NP_001086,EAW58116,EAW58117,EAW58118,EAW58119,BAF82699,AAH13891,AAI33708,ABU48925,AAB48980,AAB48981,P78348 Hs.274361,Hs.647113 GDB:6944484 ASIC|ASIC1|ASIC1A|BNaC2|hBNaC2 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. 1580863 9744806,9571199,17012229,15574747,15471860,15317815,12690205,12578970,12477932,12060708,11872753,11842212,11587714,10842183,9886053 9311 NM_004769,NM_020322,A82593,A82597,A82786,AACC02000108,AC010973,CH471173,AB010575,AB209421,AF057711,AF095897,AF195024,AF195025,NM_020321,AI580095,BC030282 NP_064717,NP_004760,NP_064718,CAB69243,CAB69244,CAB69252,EAL24495,EAL24496,EAL24497,EAW54052,EAW54053,EAW54054,EAW54055,BAA25897,BAD92658,AAC62935,AAC64188,AAF19817,AAF19818,Q9UHC3,AAI56797 Hs.647113 GDB:9955984 ASIC3|DRASIC|SLNAC1|TNaC1 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. 10852210,15815621,15489334,12477932,11571555,9847074 55515 Q96FT7 BC010439,BC031812,NM_018674,NM_182847,AC009955,AC053503,AC139723,AJ271643,AJ408881,CH471063,BC073912 EAW70760,EAW70761,EAW70762,EAW70763,AAH10439,AAH31812,NP_061144,NP_878267,AAY15054,CAB93980,CAC51338,AAH73912,Q96FT7,ABM83030 Hs.87469 ASIC4|BNAC4|MGC17248|MGC24860 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. 1580863 10767424 51802 NM_017419,AC093830,AC125334,CH471056,AJ252011 NP_059115,EAX04887,CAB85607,Q9NY37,AAI40357,AAI46498 Hs.381349 HINAC|INAC protein-coding 1606762 ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 11470512,16344560,16189514,14702039,12477932 84680 NM_032592,NM_001127219,AC134775,CH471064,AK057649,AL833533,AY026508,BC020197,CR601174,CR618044,DA196370,DA406116,DC390076 NP_115981,NP_001120691,EAW68072,EAW68073,BAB71541,AAK11482,AAH20197,Q96QU6 Hs.126706 ACS|PHACS 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. 1580863 15489334,15380063,15231715,14702039,12477932,9110174,8619474,16189514,15181449,17632522,17466001,17373762,17237768,17237767,16880378,16749892,16713569,16504561,16344560,16166375,15537664 65057 NM_001082486,NM_022914,NM_001082487,AC010530,AY971883,CH471092,AF070535,AK023726,AK125623,AY502940,BC016904,CR592709,CR599071,CR603519,CR605529,CR609290,CR610904,CR615919,CR616320,DB040017 NP_001075955,NP_075065,NP_001075956,AAX82621,EAW83154,EAW83155,BAB14658,AAS80318,AAH16904,Q96AP0 Hs.78019 PIP1|PTOP|TINT1|TPP1 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. 1581742,1566491,1566498,1598433,1300340,1331525,1601113,1601115,1580863,1601114,1300243 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1581742,1566491,1566498,1598433,1300340,1331525,1601113,1601115,1601114,1300243 1636 NM_000789,NM_152830,A31567,AC113554,AF118569,AF229986,AY436326,AY999972,AY999973,CH471109,EU332840,AB208971,BC036375,BM908180,J04144,M26657,M29981,S81361,X16295 NP_000780,NP_690043,CAA02045,AAD28560,AAD28561,AAR03504,ABA39228,ABA39229,EAW94311,EAW94312,EAW94313,EAW94314,EAW94315,EAW94316,EAW94317,EAW94318,EAW94319,EAW94320,EAW94321,ABY87529,BAD92208,AAH36375,AAA51684,AAA60611,AAD14360,CAA34362,P12821,P22966,Q15540,Q16425,Q3KRI5,Q8N710 Hs.654434 GDB:119840 ACE1|CD143|DCP|DCP1|MGC26566 angiotensin 1 converting enzyme 1 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 protein catalyzes the cleavage of angiotensin I into angiotensin 1-9. 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. 1581742,1581931,1576349,1580863,1558664,1642828 10969042,14647384,15165741,18258853,18208662,18164957,18022600,17906677,17897017,17703127,17504232,17473847,17303661,17079315,17037581,17037544,17037543,17037534,16962475,16912312,16866021,16690935,16574921,16510163,16459167,16338465,16315782,16283142,16215952,16211375,16166518,16166094,16088128,16055515,16006956,16001071,15983030,15979045,15937940,15897467,15791205,15769906,15671045,15640278,15489334,15452268,15380922,15361769,15283675,15276642,15233982,15231706,15151696,15141377,15084671,14754895,14670965,12975309,12967627,12477932,12459472,12075344,12025971,11815627,10924499 1581742,1581931,1576349,1558664,1642828 59272 NM_021804,AC097625,AF366352,AY217547,CH471074,AB046569,AB193259,AB193260,AF241254,AF291820,AK026461,AL110224,AY358714,AY623811,BC032938,BC039902,BC048094,BC048144,BC059378,CR599955 NP_068576,AAO25651,EAW98891,EAW98892,BAB40370,BAD99266,BAD99267,AAF78220,AAF99721,CAB53682,AAQ89076,AAT45083,AAH39902,AAH48094,Q9BYF1 Hs.178098 GDB:10013907 ACEH|DKFZP434A014 protein-coding 1353412 ACHAP acetylcholinesterase-associated protein 42 GDB:9836107 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. 1300048,1580863,1300342,1300297,1300239 1517212,11283752,12524166,3954986,12769797,15454088,16289501,14766237,8460160,18258603,18215127,18161504,17984143,17948252,17729290,17702992,17606622,17503475,17476278,17370251,17335779,17320203,17272501,17192673,17192630,17192624,16996687,16909200,16832351,16801396,16516310,16429485,16375580,16262697,16256968,16256091,16213467,15974920,15974894,15783300,15715671,15690550,15629887,15526038,15488495,15474030,15459952,15161650,15123727,15078872,15060281,12963741,12928915,12853948,12851386,12811800,12690205,12609505,12604711,12548360,12477932,12466963,12427014,12140295,12081473,12069617,12009429,11804574,11799248,11239002,11053835,11002295,10837146,9847074,9811904,9689136,9640563,9579781,9373149,8488842,8449945,8299725,8280063,8248502,8125298,7836436,7085778,3319614,2734315,2714437,2263619,1748670,1744105,1609795,1391965,1380483 1300342,1300297,1300239 43 NM_000665,NG_007474,AC011895,AF002993,AF312032,AY750146,CH236956,CH471091,L06484,L42812,S71129,AF334270,AK223443,AK291321,AY389977,BC001541,BC026315,BC036813,BC094752,BC105060,BC105062,BG707892,M55040,NM_015831 NP_056646,NP_000656,AAP22364,AAP22365,AAK21003,AAU43801,EAL23812,EAL23813,EAW76460,EAW76461,EAW76462,EAW76463,EAW76464,AAC60618,AAO32948,BAD97163,BAF84010,AAR26654,AAH36813,AAH94752,AAI05061,AAI05063,AAA68151,P22303,Q29S23,Q2M324,Q504V3,Q53F46,Q5XKG9,Q6TQD3,Q86YX9 Hs.154495 GDB:118746 ARACHE|N-ACHE|YT acetylcholinesterase protein-coding 1353263 ACHM1 achromatopsia (rod monochromacy) 1 1347967 6021 GDB:132458 1323663 ACIN1 apoptotic chromatin condensation inducer 1 1580863 10490026,11208865,12393560,17409846,17081983,16964243,16537548,16177823,16083285,15324660,15302935,14729942,12477932,9734811 22985 AL117258,AL132780,CH471078,AB014570,AF124726,AF124727,AF124728,AL050382,AL833228,BC032770,BC140805,NM_014977,BX247975 NP_055792,EAW66186,EAW66187,EAW66188,BAA31645,AAD56724,AAD56725,AAD56726,CAB43681,CAH10608,AAI40806,CAD62309,Q69YJ6,Q9UKV3 Hs.124490 ACINUS|ACN|DKFZp667N107|KIAA0670 protein-coding 1343783 ACLS acrocallosal syndrome 46 GDB:136346 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. 1304191,1300342,1580863,1300238 1371749,17353931,17081983,15592455,15489334,15302935,14702039,14681844,12477932,10653665,9116495,8088842,6801225,6109001,3305493,2176822 1304191,1300342,1300238 47 NM_198830,NM_001096,AC091172,CH471152,AB210035,AK095084,BC006195,BG037168,U18197,X64330 NP_942127,NP_001087,EAW60777,EAW60778,EAW60779,EAW60780,EAW60781,BAE06117,BAC04484,AAH06195,AAB60340,CAA45614,P53396,Q4LE36,Q8N9C4 Hs.387567 GDB:316220 ACL|ATPCL|CLATP 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 632265 130013 NM_138326,AC016725,CH471058,AB071418,AK125008,BC016018,BC107420,BG428338 NP_612199,AAY14997,EAX11649,EAX11650,EAX11651,EAX11652,BAB86938,BAC86023,AAH16018,Q6ZV40,Q8TDX5,AAI07421,Q53SR5 Hs.655728 GDB:11510768 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase protein-coding 1313002 ACN9 ACN9 homolog (S. cerevisiae) 1580863 10103055,18163977,15489334,12853948,12690205,12477932 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-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. 1300343,1580863,1300239 15543932,15349772,1946430,1903202,16527810,16144863,1738601,17613866,17604281,17521334,17244191,17200797,17127713,16503547,16424901,16407072,16344560,15938636,15489334,15099026,12972614,12855587,12572667,12477932,12196178,11812787,10944468,11783942,10419470,9020582,8764614,8262977,2771641,2172968 1300343,1300239 48 AB209480,NM_002197,AL161783,CH471071,DQ496106,AF261088,AK057904,BC018103,DA409113,M58510,Z11559 NP_002188,CAH72598,CAH72599,EAW58549,EAW58550,EAW58551,EAW58552,ABF47095,AAF99681,AAH18103,AAA69900,CAA77651,P21399,Q59FI0,Q5VZA6,Q5VZA7,Q9HBB2,BAD92717 Hs.567229 GDB:118960 ACONS|IREB1|IREBP|IREBP1|IRP1 iron-responsive element-binding protein 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. 1300344,1580863,1300048 9630632,16625280,16598741,16236267,15952740,15489334,15461802,14972331,12746427,12477932,12198491,11258795,10591208,9020582,8443405,7192199,1946331,1602151,1052766,879710,752479,752478,752476 1300344 50 AL008582,AL023553,CH471095,U87926,U87927,U87928,U87929,U87930,U87931,U87932,U87933,U87934,U87935,U87936,U87937,U87938,U87939,AA724140,BC014092,BC026196,CR456365,CR536568,CR592345,CR595461,CR596181,CR596278,CR596641,CR613743,CR614581,CR619036,CR621307,U80040,NM_001098,AF093096 CAK54363,AAD19351,CAI17931,CAI20278,EAW60435,EAW60436,AAC39921,AAH14092,AAH26196,CAG30251,CAG38805,AAB38416,Q71UF1,Q99798,NP_001089,CAK54662,ABM84600,ABM86762 Hs.643610,Hs.708011 GDB:118961 ACONM|MGC20605|MGC33908 mitochondrial aconitase (nuclear aco2 gene) protein-coding 1605748 ACOT1 acyl-CoA thioesterase 1 16940157,16103133,12477932 641371 NM_001037161,AC005225,BC127747,BC127748,BC132889,BC132891,BC143042,BX161396,DQ082754 NP_001032238,AAI27748,AAI27749,AAI32890,AAI32892,AAI43043,CAD61883,AAZ31236,Q86TX2 Hs.706843 ACH2|CTE-1|LACH2 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. 11696000,16940157,16103133,15489334,14702039,12477932,9734811,9373149,8125298 26027 NM_015547,NM_147161,AC099796,AL590093,CH471059,AB014607,AF416921,AF416922,AK023937,AK091112,AK223570,BC001517,BC093844,BC093846 NP_056362,NP_671517,EAX06682,EAX06683,EAX06684,BAA31682,AAL40937,AAL40938,BAB14734,BAD97290,AAH01517,AAH93844,AAH93846,Q53ER9,Q5VUG1,Q5VUG2,Q8WXI4 Hs.234786 GDB:11508022 BFIT|BFIT1|BFIT2|KIAA0707|STARD14|THEA|THEM1 protein-coding 736721 ACOT12 acyl-CoA thioesterase 12 1300048 16951743,16940157,16103133,15489334,14702039,12767336,12477932,11322891 134526 NM_130767,AC008411,AC010623,CH471084,AB078619,AK122960,BC075010,BC075011,BC089437 NP_570123,EAW95874,EAW95875,BAB84022,AAH75010,AAH75011,AAH89437,Q5FWE9,Q8WYK0 Hs.591756 CACH-1|Cach|MGC105114|STARD15|THEAL cytoplasmic acetyl-coa hydrolase 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] 17353931,10944470,16940157,16103133,15489334,15007068,14702039,12665801,12477932,9373149,8125298,7596406 10965 NM_006821,AC005225,AK001939,AK093131,AK223635,AY005822,BC004436,BC006335,BC006500,CR599069,CR599629,CR610624,CR617797,CR618088,CR622314,CR624943,DQ082755,L40401 NP_006812,BAA91989,BAD97355,AAF97985,AAH04436,AAH06335,AAH06500,AAZ31237,AAC42007,P49753,Q53EK4,ABM84414,ABM87405 Hs.446685,Hs.706843 Mte1|PTE2|ZAP128 protein-coding 1605006 ACOT4 acyl-CoA thioesterase 4 16940157,16141203,16103133,15489334,14702039,12477932,10944470,10567408,7596406 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,Q5BKT6,Q8N9L9 Hs.49433 PTE-Ib|PTE1B|PTE2B protein-coding 1605747 ACOT6 acyl-CoA thioesterase 6 16940157,16103133,12477932 641372 NM_001037162,AC005225,CH471061,BC126378,BC126380,DQ082756 NP_001032239,EAW81122,AAI26379,AAZ31238,Q3I5F7,AAI26381 Hs.122038 C14orf42|MGC161656|MGC161658|c14_5530 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. 10578051,16940157,16713569,16710414,16103133,15731883,15592755,15489334,14702039,12477932,12435388 11332 NM_007274,NM_181864,NM_181865,NM_181866,AL031847,AL031848,CH471130,AB074415,AB074416,AB074417,AB074418,AB074419,AK057168,AK289572,AK290097,AK291583,AK292202,AL702662,BC017365,BG332214,BM807217,BQ067921,BT006888,BU594651,CR593786,CR594456,CR595220,CR597165,CR599443,CR599569,CR603255,CR604226,CR605522,CR606054,CR608567,CR611815,CR614606,CR615031,CR617887,CR620600,CR620739,D88894,U91316 NP_009205,NP_863654,NP_863655,NP_863656,CAI19435,CAI19440,CAI19442,CAI19443,EAW71527,EAW71528,EAW71529,EAW71530,EAW71531,EAW71532,BAC20174,BAC20175,BAC20176,BAC20177,BAC20178,BAF82261,BAF82786,BAF84272,BAF84891,AAH17365,AAP35534,BAA24350,AAB61211,O00154 Hs.126137 ACH1|ACT|BACH|CTE-II|LACH|LACH1|MGC1126|RP1-120G22.10|hBACH brain acyl-coa 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. 1580863 10092594,9153233,17624024,16940157,16335799,16141203,16103133,15489334,15194431,14702039,12477932,11780052,11755680,11549316,10944470,10807905,9299485,10799608 10005 NM_183386,NM_005469,AL008726,CH471077,AF014404,AF124264,AK056668,AK292494,BC117155,BC117157,BI911038,CR541771,CR541778,X86032 NP_899242,NP_005460,CAA15502,CAC36012,CAC36013,EAW75794,EAW75795,EAW75796,EAW75797,EAW75798,AAB71665,AAD27616,BAF85183,AAI17156,AAI17158,CAG46570,CAG46577,CAA60024,O14734,Q6FHI2 Hs.444776 GDB:9954875 HNAACTE|PTE-2|PTE1|PTE2|hACTE-III|hTE 4,8-dimethylnonanoyl-coa thioesterase protein-coding 1606811 ACOT9 acyl-CoA thioesterase 9 16940157,16103133,14702039,12477932,10810093,10383425 23597 NM_001033583,NM_001037171,AC093011,AC131011,CH471074,AF132950,AF241787,AK000659,AK024337,AL548456,BC012573,BX648512,CR600319,CR601309,CR604879,CR612046,CR612732,CR616902,CR618320,CR626755 NP_001028755,NP_001032248,EAW98997,EAW98998,AAD27725,AAG44475,AAH12573,Q96EA2,Q9H2R8,Q9Y305 Hs.298885 ACATE2|CGI-16|MT-ACT48 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. 1298651,1580863 7876265,8159712,17458872,17081983,16396496,16381901,15489336,15489334,14702039,12477932,11815777,11230166,11076863,10960480,10856712,9373149,8798738,8507686,8125298,8117268,8040306,7668838,1464743,16189514 1298651 51 CR595778,CR603405,S69189,U07866,X71440,NM_007292,AC040980,AC087289,CH471099,NM_004035,U03254,U03268,AK095501,AK225897,AK291793,AK292965,BC008767,BC010425,BX537380 CAD97622,AAB30019,AAA18595,CAA50574,Q0JTX8,Q15067,Q7Z3W5,CAL38034,NP_004026,NP_009223,EAW89349,EAW89350,EAW89351,EAW89352,AAA19114,AAA19113,BAF84482,BAF85654,AAH08767,AAH10425 Hs.464137 GDB:282672 ACOX|MGC1198|PALMCOX|SCOX protein-coding 735528 ACOX2 acyl-Coenzyme A oxidase 2, branched chain The product of this gene belongs to the acyl-CoA oxidases 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. 1580863,1300345,1300244 8943006,15489334,12477932,9070889,8993592,8387517 1300345,1300244 8309 NM_003500,AC116036,AJ001541,CH471055,BC033517,BC047700,BI490007,X95190 NP_003491,CAB65596,EAW65375,EAW65376,EAW65377,AAH47700,CAA64489,Q99424 Hs.444959 GDB:9834614 BCOX|BRCACOX|BRCOX|THCCox 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. 1580863,1300048 9271077,16344560,15599942,15489334,15231748,12477932,9373149,8387517,8125298 8310 NM_001101667,NM_003501,AC104825,CH471131,AK225080,BC017053,CA306669,CR590418,CR609446,DA949869,Y11411 NP_001095137,NP_003492,EAW82339,EAW82340,EAW82341,EAW82342,AAH17053,CAA72214,O15254 Hs.479122 GDB:9864776 protein-coding 1315641 ACOXL acyl-Coenzyme A oxidase-like 1580863 14702039,12477932 55289 NM_001105516,AC023131,AC096591,AC096670,AC114776,CH471237,AK001904,BC022268,BC131514 NP_001098986,AAY14838,AAY24074,AAY14796,EAW50357,EAW50358,EAW50359,EAW50360,BAA91970,AAH22268,AAI31515,Q9NUZ1 Hs.253320 FLJ11042 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. Three transcript variants encoding distinct isoforms have been identified for this gene. 1625289,1358577,1625288,1580863,1300048 1587862,17353931,18490013,18262048,17703100,17565542,17472574,17390764,17171650,16973312,16893901,16344560,16253994,16224193,16189514,16036221,15988697,15974295,15951569,15586390,15489334,15359537,15281007,15230135,14637146,12942785,12815062,12640337,12477932,12438242,12418966,12409270,12231445,12167657,12100313,11976341,11971983,11963573,11912546,11785295,11534018,11436564,11369750,10608891,10336608,9705307,9684876,9499402,9038134,8586411,8364553,4356849,4065897,1939112,1627603,1304913,736044,457131 1358577,1625288 52 NM_004300,NM_007099,AC079779,CH471053,NM_001040649,L06508,U25847,U25849,AB209838,AK289934,AK291861,BC007422,BC020699,BC106011,BI460080,BT007136,CR591454,CR597555,CR599434,CR607431,CR609595,CR609802,CR613475,CR624312,DA378283,M83653,M83654,M87545,M87546,S62884,S62885,Y16846 NP_001035739,NP_004291,NP_009030,AAY14958,EAX01111,EAX01112,EAX01113,EAX01114,EAX01115,EAX01116,AAB59628,AAC52067,BAD93075,BAF82623,BAF84550,AAH07422,AAH20699,AAI06012,AAP35800,AAB59354,AAB59355,AAB27085,AAB27086,CAA76416,O75702,P24666,Q3KQX8,Q59EH3,Q8WW94 Hs.558296 GDB:118962 HAAP|MGC111030|MGC3499 1643262,1643271 BW207_H,BW214_H protein-coding 10071 ACP2 acid phosphatase 2, lysosomal Lysosomal acid phosphatase is comprised of two subunits, alpha and beta, and is chemically and genetically distinct from red cell acid phosphatase. Lysosomal acid phosphatase 2 is a member of a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. Acid phosphatase deficiency is caused by mutations in the ACP2 (beta subunit) and ACP3 (alpha subunit) genes. 1300245,1580863,1300048 3191910,2776754,17357082,15489334,12477932,11801736,9110174,9040486,8619474,7576159,6970673,6651479,6193776,6164873,5410815,3904632,3160696,975882,730175,69583 1300245 53 AY007137,BC003160,BC093010,CR615614,X12548,NM_001610,AC018410,CH471064,X15525,X15535 AAH03160,AAH93010,CAA31064,P11117,ABM83595,ABM86839,NP_001601,EAW67950,EAW67951,CAA33542 Hs.532492 GDB:118963 acid phosphatase 2 protein-coding 10073 ACP5 acid phosphatase 5, tartrate resistant The 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. 1300346,1580863,1300048 2775236,8359686,2338077,18285546,18053985,17357281,17088078,16869970,16620768,16280328,16200454,15993892,15950921,15878315,15701839,15542543,15489334,15342556,12901871,12845688,12820342,12589973,12477932,12450668,12073156,12009023,11983200,10862785,10389595,9521821,9373149,8889548,8449511,8200916,8195113,8188227,8125298,2909539,2808373,2610679,2473026,2334436,1872798 1300346 54 NM_001611,NM_001111034,NM_001111035,NM_001111036,AC020947,CH471106,X67123,AK225912,AK290717,BC025414,BC111014,BM708166,BP367008,BX365007,CR457078,CR602962,CR615022,CR616016,CR617566,CR618497,CR624625,J04430,X14618 NP_001602,NP_001104504,NP_001104505,NP_001104506,EAW84232,EAW84233,EAW84234,BAF83406,AAH25414,AAI11015,CAG33359,AAA76849,CAA32771,P13686,Q9UCJ6,Q9UCJ7 Hs.1211 GDB:118747 MGC117378|TRAP acid phosphatase 5 protein-coding 1314899 ACP6 acid phosphatase 6, lysophosphatidic 1580863 10506173,17353931,16710414,15489334,15340161,15280042,14702039,12975309,12477932,12010880,9820827 51205 NM_016361,AL359207,CH471223,AB030039,AB031478,AB209248,AK000657,AY358552,BC009965,BC011644,BC034686,CR457101,CR598748,CR611952,CR613106,CR620074 NP_057445,CAI15199,EAW50931,BAA94309,BAA89311,BAD92485,BAA91310,AAQ88916,AAH09965,AAH34686,CAG33382,Q9NPH0 Hs.562154 ACPL1|LPAP|PACPL1 protein-coding 1342803 ACPL2 acid phosphatase-like 2 1580863 12975309,12477932 92370 NM_152282,NM_001037172,AC022215,AC117383,CH471052,AK074331,AL137529,AY358460,BC035834,BC036701,BX647621,CA421956,CD101677 NP_689495,NP_001032249,EAW79007,EAW79008,EAW79009,BAB85053,CAB70793,AAQ88825,AAH35834,AAH36701,Q8TE99,Q9NT50 Hs.657887 FLJ23751 protein-coding 736505 ACPP acid phosphatase, prostate This gene encodes an enzyme which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and secreted by the epithelial cells of the prostrate gland. 1300346,1300246,1580863,1300048 17638863,17455230,16076555,16004602,15985366,15862967,15578709,15280042,15240830,14690244,14623260,12962324,12719131,12525165,12477932,12362977,12032838,11983210,11833784,11784334,11739538,11547122,11377343,11067847,10851066,10639192,10506719,10477906,10452601,9804805,9708626,9705354,9584847,9187691,8407898,8244395,8132635,8110833,8037752,7951074,7923807,2965059,2842184,2712834,2411954,2395659,1989985,1699876,1696855,1375464,480493,76687,16189514 1300346,1300246 55 NM_001099,AC020633,CH471052,M97589,U07086,U07097,X71391,X74961,AB102888,BC007460,BC008493,BC016344,BC017877,DC383453,M24902,M34840,X52174,X53605 P15309,Q5FBY0,Q6LBH1,Q96KY0,Q96QK9,Q96QM0,ABM84074,ABM87442,NP_001090,EAW79201,EAW79202,EAW79203,EAW79204,EAW79205,AAA60021,AAB60640,CAA50514,CAA52913,BAD89417,AAH07460,AAH08493,AAH16344,AAH17877,AAA60022,AAA69694,CAA36422,CAA37673 Hs.433060 GDB:119644 ACP-3|ACP3|PAP 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. 15219672,11414767 93650 NM_033068,AC010325,AF321918,CH471135 NP_149059,AAK09393,AAK09394,AAK09395,AAK09396,EAW71900,EAW71901,EAW71902,EAW71903,EAW71904,Q9BZG2,AAI40295,AAI46507 Hs.293394 GDB:11499651 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 1937464,6802470,6815104,15950652,7521127,15950651,10418103,3880736,10369396,12398221,16344560,15955892,15461802,12931362,12801583,12477932,11839395,11739644,11076863,10734459,6357995,2606479,2550339,2493394,2298447,2114285,1907596,1783391,1628652,15782160 49 NM_001097,AC000036,AC002056,CH471138,M77378,M77379,M77380,M77381,X54017,X66188,CR456366,DB054152,Y00970 NP_001088,EAW73587,EAW73588,AAA51572,AAA51573,AAA51574,AAA51575,CAA37964,CAA46956,CAG30252,CAA68784,P10323,AAI11594,CAK54364,CAK54663 Hs.370870 GDB:119645 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. 1580863 12477932,11248070,16301813,15489334 84519 NM_032489,AC135892,CH471116,AB051833,AF085884,BC033010 NP_115878,EAW88774,BAB39388,AAH33010,Q8NEB7,ABM81798,ABM84954 Hs.123239 GDB:11505585 OY-TES-1|SP32 protein-coding 1346265 ACRC acidic repeat containing 1580863 14702039,11714101 93953 NM_052957,AL590763,CH471132,AJ311392,AK097433,AK127607 NP_443189,EAX05284,CAC60255,BAC05051,Q96QF7 Hs.135167 GDB:11500294 NAAR1 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. 1580863 1693291,11730901,9373149,8373955,8288254,8125298,7888499,7619499,2298314,1637938,12477932,15489334 56 AAB34927,AAB34928,AAB34929,AAB34930,AAB34931,AAB34933,AAB34935,AAB34936 S65576,CH471065,NM_001612,NM_020069,NM_020115,NM_020110,NM_020107,NM_020113,NM_020108,NM_020111,NM_020109,AP001132,S65583,S65578,S65606,AK223335,BC014588,H93373,M82967,M82968 EAW67654,EAW67655,EAW67656,EAW67657,EAW67658,EAW67659,EAW67648,EAW67649,EAW67650,EAW67651,EAW67652,EAW67653,NP_001603,NP_064454,NP_064500,NP_064495,NP_064492,NP_064498,NP_064493,NP_064496,NP_064494,AAB28238,BAD97055,AAH14588,AAA36625,AAA36626,AAB34927,AAB34928,AAB34929,AAB34930,AAB34931,AAB34933,AAB34935,AAB34936,P26436,Q53FF4 Hs.169222,Hs.596575 GDB:127969 D11S4365|SP-10|SPACA2 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. 15800013,14702039,14516277,12975357,12477932,11112418,10954726,9734811,9110174,8619474 23205 BC040252,NM_015162,AC090260,AC090607,CH471136,AF070624,AF179481,AK054882,BC009289 AAH09289,Q96GR2,ABM87427,ABW03887,NP_055977,EAW99180,AAG09404 Hs.655760 BG1|BGM|FLJ30320|GR-LACS|KIAA0631|MGC14352|hBG1|hsBG protein-coding 1604279 ACSBG2 acyl-CoA synthetase bubblegum family member 2 16371355,15685348,14702039,12975309,12477932,11230166,9373149,8125298 81616 NM_030924,AC011471,AC104538,CH471139,AJ577571,AK057412,AK093433,AK225862,AL040604,AL136854,AY009107,AY358766,BC022027,BC090046,BI561348 NP_112186,EAW69111,CAE12156,CAE12157,BAB71476,CAB66788,AAG49398,AAQ89126,AAH22027,AAH90046,Q5FVE4,ABM81759,ABM84914 Hs.465720 BGR|BRGL|DKFZp434K1635|MGC111089|PRTD-NY3 protein-coding 1604594 ACSF2 acyl-CoA synthetase family member 2 17762044,16380219,12975309,12477932,9373149,8889548,8125298 80221 NM_025149,AC004707,AC021491,CH471109,AK024573,AK225044,AK225561,AY358660,BC012053,BC014123,CA945050,CR617763,DC384989 NP_079425,EAW94612,BAB14930,AAQ89023,AAH12053,AAH14123,Q96CM8 Hs.288959 ACSMW|AVYV493|FLJ20920 protein-coding 1604214 ACSF3 acyl-CoA synthetase family member 3 17762044,16344560,16303743,14702039,12477932 197322 NM_001127214,NR_023316,AC009113,AC135782,CH471184,CS051329,AK075499,AK096561,AK290963,BC028399,BC064609,BC072391,CR606678,NM_174917,CR615543,CR623892,CR624745,CR976321,DA062861 NP_777577,NP_001120686,EAW66744,CAI72159,BAC11654,BAF83652,AAH28399,AAH64609,AAH72391,Q4G176,Q6P2C7 Hs.461727 FLJ39242 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. 70279,1625737,1625735,1625742 10548543,1531127,16054041,16834775,15489334,15292367,14702039,12477932,8889548,8584017,8399326,7948012,7490105,7429333,2973813,2341402,2007410,1607358,1599407 70279,1625737,1625735,1625742 2180 NM_001995,AC079257,AC084871,CH471056,AK096117,AK292798,BC026290,BC033479,BC050073,BG680610,BG773086,BI461964,BM982557,CR597120,CR598751,CR614171,D10040,DQ083028,DQ083029,L09229 NP_001986,EAX04662,EAX04663,EAX04664,EAX04665,BAC04704,BAF85487,AAH26290,AAH50073,BAA00931,AAZ30711,AAZ30712,AAB00959,P33121,Q108N1,Q108N2 Hs.406678 ACS1|FACL1|FACL2|LACS|LACS1|LACS2 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. 8663269,17220478,18003621,17901542,17761945,16354793,15556626,15489334,15302935,15292367,14702039,12477932,11707336,9177793,8889548,7987323,6240978,1848073,1433226 2181 NM_004457,NM_203372,AB061436,AC013476,AC016712,CH471063,AB061712,AF116690,AI378485,AK001471,AK023191,BC012066,BC032144,BC041692,BF679686,BG772246,BM971377,BQ435549,BX472576,CR608706,D89053,N44998 NP_004448,NP_976251,BAB72139,EAW70807,EAW70808,EAW70809,BAB72074,AAF71110,AAH32144,AAH41692,BAA37142,O95573,Q6PIM8,Q9P1E5 Hs.655772 ACS3|FACL3|PRO2194 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. 1580863 9480748,9598324,17934335,16276108,15849811,15489334,15292367,15146197,15108178,12949969,12824887,12525535,12477932,11889465,11731423,10874125,9598718,1567471 2182 NM_004458,NM_022977,AB061711,AL118496,AL138968,CH471120,AB061713,AB061714,AF030555,AK292070,BC034959,BQ016115,CN310691,CR603171,DR004263,Y12777,Y13058 NP_004449,NP_075266,BAB88649,CAI42299,EAX02671,EAX02672,EAX02673,EAX02674,BAB86900,BAB86901,AAC17493,BAF84759,AAH34959,CAA73314,CAA73501,O60488,Q5JV16,Q8TAF6,ABM81761,ABM84916 Hs.268785 ACS4|FACL4|LACS4|MRX63|MRX68 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. 18228202,17761945,17681178,17495181,16198472,15809837,15736044,15489334,15292367,15164054,14608540,12975309,12477932,12147264,11707336,11319232,11127823,9373149,8125298 51703 AJ347687,AL157786,CH471066,CS248458,AB033899,AJ496489,AK000339,AK024932,AK222782,AK223288,AL708480,AM262166,AY358520,BC007985,CD689921,CF595490,NM_203379,NM_203380,NM_016234,AB033920 BAA86054,CAC79123,CAH72510,EAW49532,EAW49533,EAW49534,EAW49535,EAW49536,EAW49537,EAW49538,EAW49539,CAJ56749,BAA85979,CAD43000,CAK18174,AAQ88884,AAH07985,Q53FJ7,Q53GZ9,Q9ULC5,ABM84192,ABM87595,NP_976313,NP_976314,NP_057318 Hs.11638 ACS2|ACS5|FACL5 protein-coding 1349836 ACSL6 acyl-CoA synthetase long-chain family member 6 1599805,1599808,1580863 10548543,17567994,17030554,16834775,16827919,16806233,16572202,15292367,14702039,12477932,10502316,10048485 1599805,1599808 23305 NM_001009185,AC034228,CH471062,AB020644,AF099740,AF129166,AK122702,AW952652,BC026161,BC047453,BI545119,NM_015256,BI548729,CR606980,DQ083030,DQ083031,DQ655980 NP_056071,NP_001009185,EAW62355,EAW62356,EAW62357,EAW62358,EAW62359,EAW62360,BAA74860,AAD17853,AAD47199,AAH26161,AAH47453,AAZ30713,AAZ30714,Q108M9,Q108N0,Q4G191,Q86TN7,Q9UKU0 Hs.14945 ACS2|FACL6|FLJ16173|KIAA0837|LACS2|LACS5 protein-coding 1315639 ACSM1 acyl-CoA synthetase medium-chain family member 1 1580863 15361761,14702039,12654705,12477932,11470804 116285 NM_052956,AB062503,AC003034,AC020926,AC141273,CH471228,AB059429,AK092574,BC125177,BC125178 NP_443188,BAB68363,AAC23498,EAW66826,EAW66827,EAW66828,BAB64535,AAI25178,AAI25179,O75203,Q08AH1 Hs.306812 GDB:11505700 BUCS1|MACS1|MGC150532 butyryl coenzyme a synthetase 1 protein-coding 1606171 ACSM2A acyl-CoA synthetase medium-chain family member 2A 16344560,14702039,12477932,10493829 123876 AK096132,BC125175,BC125176,DA034571,DC362857,NM_001010845,AC003034,AC137056,AI340924,AK055867,AK091878,AK096039 AAI25177,Q08AH3,NP_001010845,AAC23497 Hs.298252 A-923A4.1|ACSM2|MGC150530 protein-coding 1604166 ACSM2B acyl-CoA synthetase medium-chain family member 2B 16521160,15221005,15122652,12616642,11415461,10434065,8934636,8884467 348158 NM_001105069,NM_182617,XM_001724180,XM_001724186,XM_001724187,AC141053,AC141273,AB073604,AK129944,AK289416,AY160217,BC026010,DC329427,DC362610,DC362960,DC362964,DC412825 NP_001098539,NP_872423,XP_001724232,XP_001724238,XP_001724239,BAD38642,BAF82105,AAO17576,Q68CK6 Hs.298252,Hs.567879 ACSM2|HXMA|HYST1046 acyl-coa synthetase medium-chain family member 2 protein-coding 735798 ACSM3 acyl-CoA synthetase medium-chain family member 3 1579978,1601004,634023 7907320,17278971,17070428,15361761,14567496,12484505,12477932,12046348,11772874,11470804,11158418,10493829,9373149,8135833,8125298,7843754 1579978,1601004,634023 6296 NM_005622,NM_202000,AC004381,CH471228,AK223139,AK290322,BC002790,BI770558,BI826935,BM828310,BU170035,CA425752,D16350,X80062 NP_005613,NP_973729,AAC31667,EAW66834,EAW66835,BAD96859,BAF83011,AAH02790,BAA03853,CAA56369,Q53FZ2,ABM83905,ABM87226,ABW03856 Hs.706754 GDB:310422 SA|SAH sa rat hypertension-associated homolog protein-coding 1642901 ACSM4 acyl-CoA synthetase medium-chain family member 4 17762044 341392 NM_001080454,AC131205 NP_001073923 Hs.450804 protein-coding 1603027 ACSM5 acyl-CoA synthetase medium-chain family member 5 17762044,12477932,11752456 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 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. 1580863 15489334,14702039,12477932,11780052,11347906,11214971,11150295 84532 NM_032501,AL035661,AL080312,CH471133,AB058749,AK024396,AK024424,AK027817,AK090851,AK092295,AK094414,AK125058,AK127566,AL832939,AL833041,BC032076,BC039261,BC044588,BC055008,BC114612,CR593620,CR616020,CR624354 NP_115890,CAI21828,CAI18916,CAI18917,EAX10106,EAX10107,EAX10108,EAX10109,EAX10110,EAX10111,BAB47475,BAB15714,BAB55390,BAC03530,BAC03853,BAC86035,CAH56320,CAH56303,AAH39261,AAH44588,AAH55008,AAI14613,Q1RMZ4,Q5TF43,Q658R1,Q658X4,Q6ZV30,Q7Z5G3,Q8N2B9,Q9H7Q4,Q9NUB1 Hs.529353 GDB:11505583 ACAS2L|AceCS2L|FLJ45659|MGC33843 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. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10843999,15231747,16788062,16344560,15489334,14702039,12477932,11780052 55902 NM_001076552,NM_018677,AL049709,AL133324,CH471077,AF263614,AK000162,AK000188,AK022608,AK025990,AK092281,AK098026,AL359946,BC010141,BC012172,BC073846,BC098422,CR620320,CR749716,DA628275,DA630609 NP_001070020,NP_061147,CAI19725,CAI19726,CAI19311,CAI19312,EAW76242,EAW76243,EAW76244,EAW76245,EAW76246,EAW76247,EAW76248,AAF75064,BAB14127,BAC03849,AAH10141,AAH12172,AAH73846,AAH98422,CAH18485,Q5QPG9,Q5QPH0,Q5QPH1,Q5QPH3,Q68CU9,Q6DKJ3,Q8N238,Q96FY7,Q9H9U4,Q9NR19 Hs.517034 GDB:11504357 ACAS2|ACS|ACSA|AceCS|DKFZp762G026|dJ1161H23.1 acetyl-coenzyme a synthetase 2 (adp forming) protein-coding 1603012 ACSS3 acyl-CoA synthetase short-chain family member 3 17762044,12477932 79611 NM_024560,AC078920,AC078955,AC134506,CH471054,AK025616,AK074267,AK074938,BC009317,BC015769 NP_078836,EAW97372,EAW97373,BAB15190,BAC11304,AAH09317,AAH15769,Q9H6R3 Hs.259559 FLJ21963 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. 1298659,1598720,1300347,1300247,1559154 12857853,12721663,12714565,12665555,12571245,12534372,12480535,12477932,12475945,12466270,12417594,12388543,12383268,12210873,12163017,12127568,12119014,12048248,12044158,12033495,12006649,11969288,11950878,11889126,11877456,11850458,11839310,11821948,11812134,11795944,11707283,11702052,11701614,11583571,11580270,11536049,11524436,11481347,11468283,11461920,11438522,11429692,11415434,11309382,11259305,11171322,11166164,11106625,11090452,11071908,11053353,11027608,11018051,10984435,10958653,10882740,10793131,10666339,10628374,10601340,10583954,10581178,10575001,10564664,10559237,10438535,10366597,10224093,10072583,9852149,9832551,9792688,9724539,9668039,9645951,9512503,9490638,9417078,9298982,9251807,9214391,9199170,8999969,8612804,8567732,8422497,8413665,8258301,7908614,7908020,7820861,7816144,7780165,7703225,7680654,7503723,6893424,6865942,6190133,3842206,3793760,2936753,2907503,2455687,2395459,2161834,1808202,1544421,1383230,1074709,648524,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,16189514,12695497,14507647,15059972,14594945,14592989,14634002,10491393,11691822,12384700,14688263,9695962,12438242,12019270,15494313,10508519,12849983,11333380,15198992,18063690,17387733,16945536,16916647,16427282,15679046,15520409,15507486,15489334,15468086,15454575,15336687,15236405,15152255,15107502,15072110,14702039,14684598,14668487,14640694,14576350,14506234 1298659,1598720,1300347,1300247,1559154 58 NM_001100,NG_006672,AF182035,AL160004,CH471098,M20543,AK096902,AL598491,AY280960,BC012597,BX648545,CR536516,CR541796,J00068 NP_001091,AAF02694,CAI19050,CAI19051,CAI19052,EAW69898,AAA60296,AAP37280,AAH12597,CAG38754,CAG46595,AAB59376,P68133,Q5T8M9,Q7Z7J6,ABM83875,ABM87196 Hs.1288 GDB:120535,GDB:439372 ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3 actin alpha 1 protein-coding 1348351 ACTA2 actin, alpha 2, smooth muscle, aorta Actin alpha 2, the human aortic smooth muscle actin gene, is one of six different actin isoforms which have been identified. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus. 1298662 17994018,17786474,17626241,16289162,16115228,16051665,15862967,15588509,15555551,15489334,15164054,12477932,12119014,11812134,11707283,11580270,11037796,10628374,10341211,9546431,9512352,8138584,7780165,6725286,6330528,3842206,2701935,2612915,2398629,2295650,2022339,1969628,1939373,1555776,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,16189514,14743216,14530271 1298662 59 NM_001613,AL157394,CH471066,D00618,K01741,K01742,K01743,K01744,K01745,K01746,K01747,M33216,AY692464,BC017554,BC093052,CR536518,CR590615,CR591183,CR592949,CR597033,CR619420,CR621459,CR622200,J05192,X13839 NP_001604,CAI13864,CAI13865,EAW50153,EAW50154,EAW50155,BAA00492,AAA51586,AAA60560,AAW29811,AAH17554,AAH93052,CAG38756,AAA51577,CAA32064,P62736,Q13707,Q5T9N7,ABM83317,ABM86532 Hs.500483 GDB:125197 ACTSA 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. 1298665,1300347 17342765,6202424,16130169,10966108,18261463,17939680,17651734,17548472,17373842,17181997,16824795,16762366,16685646,16549430,16536728,16375898,16289162,16210567,16189514,16148048,16146415,16021519,15952740,15897890,15862967,15711563,15673434,15592455,15574586,15556561,15555571,15527767,15489334,15231748,15111311,15101111,15009185,15009096,14966270,14760703,9013719,8941379,8913639,8892894,8780737,8761950,8661406,8639502,8619402,8605189,8547189,8341682,8319567,8125298,8050815,7929073,7876308,7876306,7103951,6865942,6842590,6686106,6322116,6304075,3842206,3335520,2994062,2837653,2155660,1734024,1662743,1629950,1555776,1505215,435297,274701,10556093,16526095,9841925,7535922,1540415,8997639,1991513,1907279,14702039,14634002,14623863,14592989,12963728,12853948,12704194,12673016,12670476,12665801,12591166,12547197,12522145,10470109,10470015,10411937,10403844,10381382,10078207,10074138,10049817,9971772,9848710,9848085,9847074,9845365,9813091,9739080,9686908,9676236,9563518,9525888,9487115,9463375,9373149,9359436,9295142,9268132,9252372,9209005,9150887,9108196,12470643,12456645,12435603,12388067,12080081,15710247,15371598,14694110,16091223,15140972,14597672,9288906,11839798,12639940,15558034,15361876,15502823,15135048,12062430,12029088,12009869,11983702,11964161,11955010,12477932,11950878,11950601,11940582,11937625,11854414,11846445,11832213,11812134,11790298,11787062,11721045,11709093,11707406,11696420,11691822,11673475,11580269,11579089,11563969,11535601,11533442,11532003,11415434,11373276,11350761,11326315,11257002,11238447,11078522,11029056,11027608,10945978,10866806,10851017,10833443,10792467,10787407,10773068,10748209,10683146,10677499,10604479,10601251,10600384 1298665,1300347 60 CR592670,CR592795,CR593025,CR593072,CR593321,CR593592,CR593598,CR593734,CR593796,CR593813,CR593865,CR593896,CR593937,CR594038,CR594076,AC006483,AY582799,AY970442,CH471144,CS081475,M10277,AK025375,AK058019,AK098751,AK125561,AK130062,AK130157,AK222925,AK223032,AK223055,AK225414,BC001301,BC002409,BC004251,BC008633,BC009275,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,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,CR592292,CR592305,NM_001101,CR620246,CR620258,CR621112,CR621117,CR621183,CR621189,CR621402,CR621548,CR621625,CR621635,CR622089,CR622223,CR622502,CR622603,CR622634,CR620197,CR622700,CR622834,CR623430,CR624202,CR624251,CR624284,CR624351,CR624852,CR625087,CR625492,CR625602,CR626030,DQ407611,DQ471327,EF036500,EF095209,K00790,M28424,V00478,X00351,X63432,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,CR605511,CR605646,CR605718,CR605790,CR605924,CR606116,CR606701,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,CR604921,CR614558,CR614609,CR614723,CR614901 NP_001092,AAP22343,AAS79319,AAX82251,EAW87341,EAW87343,CAI95947,AAA51567,BAD96645,BAD96752,BAD96775,AAH01301,AAH02409,AAH04251,AAH08633,AAH12854,AAH13380,AAH14861,AAH16045,AAI13037,ABD66582,ABF01018,ABO65086,ABL01513,AAA51578,AAB16906,CAA23745,CAA25099,CAA45026,A0AUL6,P60709,Q1KLZ0,Q53G76,Q53G99,Q53GK6,Q562S0,Q96HG5,Q9UE89,Q9UMN3,ABM81886,ABM85054 Hs.520640,Hs.708120 GDB:118964 PS1TP5BP1 protein-coding 1603843 ACTBL2 actin, beta-like 2 16824795 345651 NM_001017992,AC025470,AY970384,AY970433,AY970451,AY970452,CH471123,BX648504 NP_001017992,AAX82193,AAX82242,AAX82259,AAX82260,EAW54967,Q562R1 Hs.482167 ACT|DKFZp686D0972 similar to riken cdna 4732495g21 gene protein-coding 1349890 ACTBP1 actin, beta pseudogene 1 3837182 61 GDB:118965 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 GDB:118966 pseudo 1353051 ACTBP3 actin, beta pseudogene 3 63 GDB:118967 1350369 ACTBP4 actin, beta pseudogene 4 3837182 64 NG_003020,AC008695 GDB:118968 pseudo 1348315 ACTBP5 actin, beta pseudogene 5 65 GDB:118969 1345201 ACTBP6 actin, beta pseudogene 6 66 GDB:119646 1351732 ACTBP7 actin, beta pseudogene 7 1298666 6571702,6296793 1298666 67 NG_002724,AC090516,V00479 GDB:681516 pseudo 1348995 ACTBP8 actin, beta pseudogene 8 1298666 9345905,6571702,6296793,1561114 1298666 68 NG_000840,AL139042,V00481 GDB:681514 ACTBP2 pseudo 1346494 ACTBP9 actin, beta pseudogene 9 1298670 8941379 1298670 69 NG_003162,D50604 GDB:700051 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). 1298672,1559158,1598724,1598727,1598729,1300348,1300248 12011427,11997265,11983702,11968018,11936879,10966831,10847344,10528865,10494087,10330430,9848085,8913639,8163527,8127865,7780165,6689196,6584914,6310553,6273789,6272269,3789022,1762945,1639426,1602151,1246600,10556093,9563954,16526095,9841925,1540415,8997639,1991513,1907279,14694110,16189514,16754800,18403758,17947298,17611253,16967490,16199542,15489334,15337165,14988412,14760703,14702039,14507647,12721663,12554937,12477932,12452439,12445881,12438125,12417592,12408964,12358155,12271120,12270929,12207032,12139639,12136158,12134071,12118075,12110694,12087068,12063253,12042308,12029088,12019562 1298672,1559158,1598724,1598727,1598729,1300348,1300248 70 J00070,J00071,J00072,J00073,AI222203,AK056592,AK129892,AK129902,AK290616,BC009978,CR541795,CR737466,DB504220,NM_005159,NG_007553,AC087457,CH471125 AAB59619,BAF83305,AAH09978,CAG46594,P68032,ABM84022,ABM87368,NP_005150,EAW92316,EAW92317,EAW92318 Hs.709351 GDB:118970 ACTC|CMD1R actin alpha cardiac 1 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. 1331525 9808630,16189514,16130169,17914456,17722883,17693642,17285762,17220478,17088428,16901892,16824795,16773128,16690605,16569662,16365169,16236267,16179592,16169070,15759055,15618548,15489334,15231748,15163409,15009185,14760703,14684684,13680526,12665801,9362513,9245787,9199338,9153421,8941379,8892894,8761950,8661406,8630056,8617195,8612804,8416954,8399167,8228254,7849017,7820861,6893424,6865942,6686106,3737401,3510866,3472224,3335520,2837653,1602151,1331119,10556093,16526095,9841925,1540415,8997639,1991513,1907279,14694110,14597672,9288906,12874605,12835311,14565974,14576350,9535896,14743216,15746964,12665555,12612070,12519370,12477932,12470643,12388543,12372613,12052877,12029070,12009869,11941484,11733011,11709093,11474115,10970852,10958671,10925289,10903505,10848969,10781580,10713718,10662538,10074138,10049817,9971772 1331525 71 CR598831,AY970469,AY970408,AY970409,AY970410,AY970411,AY970412,AY970413,AY970414,AY970415,AY970416,AY970417,AY970418,AY970419,AY970420,AY970421,AY970441,AY970443,AY970444,AY970468,NM_001614,AC139149,AY970363,AY970364,AY970365,AY970366,AY970367,AY970368,AY970369,AY970370,AY970371,AY970372,AY970374,AY970375,AY970376,AY970377,AY970380,AY970381,AY970382,AY970383,AY970402,AY970403,AY970404,AY970405,AY970406,AY970407,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,CR595096,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,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,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,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,CR598898,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,BC010999,BC012050,BC015005,BC015695,BC015779,BC017450,BC018774,BC018861,BC023548,BC039144,BC053572,BC063495,BT019856,AY970476,AY970477,AY970478,AY970483,AY970485,AY970486,AY970487,AY970488,AY970489,AY970490,AY970491,AY970492,AY970493,AY970494,AY970495,AY970496,AY970497,AY970498,AY970499,AY970500,AY970501,M19283,AK291937,BC000292,BC001920,BC004223,BC007442,BC009544,BC009848,BC010417,AY970470,AY970471,AY970472,AY970473,AY970474,AY970475 AAV38659,AAX82216,AAX82217,AAX82218,AAX82219,AAX82220,AAX82221,AAX82222,AAX82223,AAX82224,AAX82225,AAX82226,AAX82227,AAX82228,AAX82229,AAX82230,AAX82250,AAX82252,AAX82253,AAX82274,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,AAA51580,CAA27723,P63261,Q562L5,Q562L9,Q562M3,Q562M5,Q562N0,Q562N2,Q562N8,Q562P0,Q562R8,Q562U1,Q562U2,Q562V5,Q562X9,Q562Y6,Q562Y8,Q562Z4,Q562Z6,Q562Z7,Q562L6,Q6PJ43,Q8WVW5,Q96DE1,Q96FU6,Q9BTD2,ABM82300,ABW03432,AAH10999,AAH12050,AAH10417,AAH15005,AAH15695,AAH15779,AAH17450,AAH18774,AAH23548,AAH53572,AAX82281,AAX82282,AAX82283,AAX82284,AAX82289,AAX82291,AAX82292,AAX82293,AAX82294,AAX82295,AAX82296,AAX82297,AAX82298,AAX82299,AAX82300,AAX82301,AAX82302,AAX82303,AAX82304,AAX82305,AAX82306,AAX82307,AAA51579,BAF84626,AAH00292,AAH01920,AAH04223,AAH07442,AAH09544,AAH09848,AAX82275,AAX82276,AAX82277,AAX82278,AAX82279,AAX82280 Hs.514581 GDB:120536 ACT|ACTG|DFNA20|DFNA26 protein-coding 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. 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 1300349,1300249 72 NM_001615,AC073046,AY970439,AY970440,CH471053,D00654,AK124338,BC012617,BC094877,BI850192,CR536515,CR541794,X16940 AAH94877,NP_001606,AAX88909,AAX82248,AAX82249,EAW99712,EAW99713,BAA00546,AAH12617,CAG38753,CAG46593,CAA34814,P63267,Q562S2,ABM83873,ABM87194 Hs.516105 GDB:125198 ACT|ACTA3|ACTE|ACTL3|ACTSG actin, gamma 2 protein-coding 1345992 ACTGP1 actin, gamma pseudogene 1 8941379 73 NG_001068,AC097103,D50658 GDB:119647 pseudo 1349704 ACTGP10 actin, gamma pseudogene 10 6592095 83 NG_003039,AL139396 ACTL1|ACTP1 pseudo 1342717 ACTGP2 actin, gamma pseudogene 2 12815422,9847074 74 NG_004636,AC007742 GDB:120537 ACTL2 pseudo 1351647 ACTGP3 actin, gamma pseudogene 3 1298670 10978293,8941379,3748813 1298670 75 NG_000842,AF196978,AF196979,AL031665,D50657,X04224 GDB:636825 dJ545L17.4 pseudo 1349352 ACTGP4 actin, gamma pseudogene 4 1692956 76 GDB:681577 1347270 ACTGP5 actin, gamma pseudogene 5 1692956 77 GDB:681583 1344031 ACTGP6 actin, gamma pseudogene 6 1692956 78 GDB:681587 1354054 ACTGP7 actin, gamma pseudogene 7 1692956 79 GDB:683126 1351015 ACTGP8 actin, gamma pseudogene 8 1692956 80 GDB:683128 1342857 ACTGP9 actin, gamma pseudogene 9 8941379 82 NG_001069,AL035701,D50659 GDB:1391661 pseudo 1348277 ACTL4 actin-like 4 84 GDB:118972 1345012 ACTL5 actin-like 5 1406950 85 GDB:135326 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. 9845365,10966108,11256614,17081983,16189514,15647280,15489334,15196461,14966270,14743216,14702039,14503849,12963728,12837248,12665591,12477932,12437990,12353638,11839798,11734557,11509179,11342225,11266125,11230166,11078522,10611965,10380635,10078207,9710619,9373149,8125298,8895581 86 NM_004301,NM_177989,AC090425,AC126184,CH471052,AA256726,AB015907,AB060168,AB061315,AF041474,AK021756,AK098691,AK223212,NM_178042,AL136608,BC000949,BC001391,BC035463,BC036371,CR533529,CR594699,CR597700,CR602120,CR613774,CR621230 NP_004292,NP_817126,EAW78397,EAW78398,EAW78399,EAW78400,EAW78401,BAA74577,BAB87844,BAB87848,AAC94991,NP_829888,BAD96932,CAB66543,AAH00949,AAH01391,AAH36371,CAG38560,O96019,Q53FS0,Q6FI97 Hs.435326 ACTL6|BAF53A|MGC5382 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. 1580863 10380635,15489334,12853948,12690205,12565893,12477932,12437990,12368262,10611965,9847074,9799793 51412 NM_016188,AC099394,AF053356,CH236956,CH471091,AB015906,AF041475,BC008582,BC020944,CR594945,CR599365,CR621374 NP_057272,AAP21874,AAC78795,EAL23823,EAW76502,EAW76503,EAW76504,EAW76505,BAA74576,AAD54678,AAH20944,O94805 Hs.259831 ACTL6|BAF53B 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. 1580863 10373328,15489334,15164053,12695497,12571287,12477932,10611965,16189514 10881 NM_006687,AB284520,AF113526,AL359692,CH471105,BC014610 NP_006678,BAF41971,AAD44109,CAI40571,EAW59026,AAH14610,Q9Y615 Hs.123530 GDB:9953176 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. 1580863 10373328,15489334,15164053,14702039,12477932,10611965 10880 NM_006686,AB284521,AF113527,AL359692,CH471105,AK097670,BC033789 NP_006677,BAF41972,AAD44110,CAI40570,EAW59025,AAH33789,Q9Y614 Hs.534390 GDB:9953177 protein-coding 1602092 ACTL8 actin-like 8 14702039,12477932 81569 NM_030812,AL136529,CH471134,U20582,AK057339,BC028909,CR611452 NP_110439,CAC15940,EAW94846,AAA62476,Q9H568,BAB71434,AAH28909 Hs.2149 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. 1298684,1300350,1580863 7983147,10793131,15988023,16807302,1629252,17944866,17898132,17525629,17311919,17081983,16951376,16820411,16713569,16430917,16396496,16195373,16190873,16189514,16097034,15710624,15489334,15070900,14702039,12837758,12695497,12665801,12642359,10470015,10369880,10224105,10198040,9599291,9373149,9030526,8713105,8125298,7790378,7750553,2780298,2349951,2169343,1720388,8997639,1991513,12628297,9535896,12023963,10753915,14623081,12615977,12507293,12499399,12493766,12477932,12446711,12223541,12211109,11973348,11972044,11854440,11846417,11842093,11802708,11739652,11724819,11573089,11470434,11423549,11369769,11305911,11114196,11113628,11110697,10926853,10833443,10801846 1298684,1300350 87 NM_001102,AL117694,CH471061,AJ844628,AK098203,AK225782,BC003576,BC004984,BC015766,BC127124,BT007207,BX248020,BX641076,CR609497,CR620987,DQ496098,M95178,X15804,X55187 NP_001093,EAW80971,EAW80972,EAW80973,EAW80974,EAW80975,EAW80976,CAH59747,AAH03576,AAH15766,AAI27125,AAP35871,CAD62344,ABF50047,AAA51582,CAA33803,CAA38970,P12814,Q1HE25,Q5ZEZ4,Q86TX4,ABM81704,ABM86694 Hs.509765 GDB:125187 FLJ40884 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. 1298582,1559161,1559162,1559160,1580863 11699871,10427098,9501083,8104223,1339456,10656685,16807302,12356918,12809483,15841212,1629252,17110593,16713569,16120608,15843396,15737636,15489334,15072553,14565974,12860415,12837758,12812986,12477932,12446711,12435606,12358155,12140183,12006649,11842093,11724819,11440986,11389904,11309420,11171996,11114196,10984498,10931874,10861853,10812072,10788519,10548523,10391924,9952395,9728925,9030526,9009191,8609175,1505962 1298582,1559161,1559162,1559160 88 NM_001103,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,BC047901,BC051770,CB153006,CR593118,DC378038,M86406 NP_001094,CAB61269,CAI13778,EAW70064,EAW70065,AAA51584,BAD92758,AAH47901,AAH51770,AAA51583,P35609,Q59FD9,Q5VXF1 Hs.498178 GDB:127919 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 1298582,1580863 8104223,11171996,15841212,1339456,16807302,1629252,18470530,17986906,17879893,17848603,17630210,17627799,17560787,17550918,17468578,17339648,17033684,16612741,15886711,15817725,15808860,15718405,15489334,15221860,12879365,12837758,12477932,11440986,11309420,10656685,10192379,9675099 1298582 89 NM_001104,AP002748,CH471076,AK125851,BC096323,BC099647,BC099648,BC099649,M86407 NP_001095,EAW74546,AAH96323,AAH99647,AAH99648,AAH99649,AAA51585,Q08043,Q4JCP9,Q4VAM3 Hs.654432 GDB:127920 MGC117002|MGC117005 actinin alpha 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. 1598731,1300349,1580863 12411747,8104223,15619032,15841212,9508771,15048094,11948184,16807302,1629252,18436095,18215660,18164029,17968527,17901210,17873890,17438131,17018644,16980305,16951376,16713569,16396496,16344560,16251236,16189514,15780077,15772161,15592455,15588985,15493875,15489334,15152255,15070900,12960352,12837758,12617336,12477932,12093915,12042308,11882289,11739652,11733011,11724819,11382784,11358829,11160423,10915794,10753915,10700177,10673389,10656685,9461087,2116421,1602151,10556093,11707406 1598731,1300349 81 NM_004924,NG_007082,AC008649,AC022144,CH471126,AA478431,AU118403,BC005033,BC015620,BX647098,CR596416,CR621299,D89980,DQ431186,U48734 NP_004915,EAW56809,EAW56810,EAW56811,AAH05033,AAH15620,BAA24447,ABD96103,AAC17470,O43707,Q96BG6,ABM84365,ABM87776 Hs.270291 GDB:9958139,GDB:131821 ACTININ-4|DKFZp686K23158|FSGS|FSGS1 actinin alpha 4 protein-coding 1315176 ACTR10 actin-related protein 10 homolog (S. cerevisiae) 1580863 16341674,15489334,14702039,12857853,12477932,9373149,8125298 55860 NM_018477,AL121579,AL132989,CH471061,AF220190,AK000544,AK022248,AK022534,AK222624,AK222702,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 CAD61940,NP_060947,EAW80714,AAF67655,BAA91243,BAB14083,BAD96344,BAD96422,AAH05208,AAH11997,CAD62610,Q05DQ7,Q53H79,Q53HF6,Q86SY7,Q86TY2,Q9NZ32,ABM82220,ABM85404 Hs.509451 ACTR11|HARP11 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. 1528266,7696711,16381901,15489336,15489334,15164054,14702039,12871323,12477932,11461920,11256614,11076863,10671518,10671377,10607828,10504299,10196146,10074429,9499420,8991093,7878030,7518465,1356230,16189514 10121 AAB23391 NM_005736,AL121928,CH471066,AK096085,BC000693,BC026016,CR598823,CR600058,CR602189,CR603093,CR610318,CR615015,CR623554,CR623924,CR624758,X82206,Z14978 NP_005727,EAW49685,EAW49686,EAW49687,EAW49688,AAH00693,AAH26016,CAA57690,CAA78701,AAB23391,P61163,Q0JTZ9,CAL38013,ABM83615,ABM86860 Hs.153961 GDB:9958719 ARP1 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. 1580863 12857853,7696711,17619203,15815621,15489334,12477932,11256614,10343100,1538749 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 GDB:9865775 ARP1B|CTRN2 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. 631743 17353931,9230079,17501982,17459058,17085436,16638851,16403731,16253999,16004967,15741236,15489334,15469433,15385624,15247266,15242766,15146197,12872157,12791263,12672817,12534372,12515716,12477932,12473693,12468383,12464680,12429845,12200375,12176354,12036877,12019562,11741539,11721045,11706047,11146629,11052943,11018051,10781580,10563804,10524632,10421578,10381382,9889097,9359840,9210376,9000076,16189514,11162547 631743 10097 BU184246,BX649080,CN291246,CR593126,NM_001005386,NM_005722,AC007318,CH471053,AF006082,AL049356,BC014546,BC036253,BI670123,BQ425220,BQ684301 P61160,Q8IY98,NP_001005386,NP_005713,EAW99908,EAW99909,EAW99910,EAW99911,EAW99912,EAW99913,EAW99914,AAB64187,AAH14546,AAH36253 Hs.643727,Hs.699451 GDB:9954995 ARP2 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. 631743 15635413,15592455,15489334,15469433,15385624,15279900,15247266,15242766,12872157,12829704,12791263,12672817,12477932,12473693,12464680,12429845,12200375,12176742,12176354,12036877,11882288,11790298,11741539,11721045,11146629,11052943,11018051,10806390,10781580,10563804,10524632,17353931,9230079,17576929,17524364,17501982,17085436,16403731,16253999,16004967,15741236,10421578,10381382,9889097,9860974,9359840,9210376,9000076,11162547 631743 10096 NM_005721,AC110769,CH471103,AB209353,AF006083,AF127773,AL832773,BC044590 NP_005712,AAX93226,EAW95179,EAW95180,EAW95181,EAW95182,BAD92590,AAB64188,AAD51904,AAH44590,P61158,Q53QM2,Q59FV6 Hs.433512 GDB:9954994 ARP3 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 57180 NM_020445,NM_001040135,AC072057,AC092180,CH471209,AB209174,AF023453,AF086920,AK001198,BC008682,BC015207,CR592677,CR603830,CR604196,CR615185,DB570472 NP_065178,NP_001035225,AAS07430,EAW80446,BAD92411,AAC98904,AAP97150,AAH08682,AAH15207,Q59GD5,Q75LP0,Q7Z526,Q96BT2,Q9P1U1,ABM85680,ABW03746 Hs.647117 ARP11|ARP3BETA|DKFZp686O24114 protein-coding 1343118 ACTR3P1 ARP3 actin-related protein 3 homolog (yeast) pseudogene 1 446208 1317453 ACTR5 ARP5 actin-related protein 5 homolog (yeast) 14702039,12601173,12477932,11780052,16230350,15489334 79913 NM_024855,AL133519,CH471077,AK022847,AY211911,BC001324,BC006162,BC038402,BF529768 NP_079131,CAD37358,EAW76010,EAW76011,BAB14270,AAO65164,AAH01324,AAH06162,AAH38402,Q9H9F9 Hs.371585 GDB:11500556 FLJ12785 protein-coding 1312146 ACTR6 ARP6 actin-related protein 6 homolog (yeast) 737633,1580863 16487625,15489334,14702039,12477932,11368909,9373149,8125298 737633 64431 AC010203,AC026110,CH471054,AB038229,AF161399,AF175226,AF212251,AK023495,AK023684,AK124075,AK222959,BC015107,BC042997,BC050679,CR590822,CR592230,CR596881,CR598015,CR609733,CR614672,CR615608,CR618558,CR622632,NM_022496 NP_071941,EAW97623,EAW97624,EAW97625,EAW97626,EAW97627,BAB20762,AAF28959,AAQ13651,AAK14934,BAB14588,BAB14640,BAD96679,AAH15107,Q53GH2,Q7Z4D2,Q9GZN1,Q9P0A0 Hs.115088 ARP6|CDA12|FLJ13433|HSPC281|MSTP136|hARP6|hARPX protein-coding 1323563 ACTR8 ARP8 actin-related protein 8 homolog (yeast) 1580863 18163988,17081983,15188402,14702039,12477932 93973 NM_022899,AC012467,CH471055,AK022996,AK026232,AK094507,BC032744,BU070174,BX354684 NP_075050,EAW65300,BAB14352,BAB15402,AAH32744,Q8N566,Q9H981 Hs.412186 GDB:11500557 ARP8|FLJ12934|FLJ22579 protein-coding 1605289 ACTRT1 actin-related protein T1 15772651,15489334,12477932,12243744 139741 NM_138289,CH471107,Z74696,AF440739,AY251532,BC014597 NP_612146,EAX11839,CAI42428,AAM00432,AAP20055,AAH14597,Q8TDG2 Hs.680125 AIP1|ARIP1|ARP-T1|ARPT1|HSD27|KIAA0705|MGC26590|RP1-203C2.1 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. 15489334,15342556,12477932,12243744,11750065 140625 NM_080431,AL356984,CH471248,AB057364,AF440740,AK058153,AW016204,BC029499,BI825639,BP370015 NP_536356,EAW61142,BAB85862,AAM00433,BAB71690,AAH29499,Q5VXR6,Q8TDY3,Q96LK1,ABM82186,ABM85372 Hs.236635 ARPM2|ARPT2|Arp-T2|FLJ25424|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. 1580863,1559169 12065756,8242742,12702211,9884026,16642017,18292470,18234825,18019378,17572636,17496924,17351709,16344560,15761153,15489334,12651901,12477932,12032389,11969340,11266516,11069203,10652350,10583507,10085121,9872992,9748228,9501322,9267036,9136927,8702914,8622651,8612709,8599089,8397373,8389764,8248234,8006002,7791754,16189514 1559169 90 NM_001105,NM_001111067,A38807,AC013731,AC019186,CH471058,BC033867,BC036748,CR623544,DA796090,L02911,Z22534 NP_001096,NP_001104537,CAA02405,AAY24272,AAY15094,EAX11438,EAX11439,EAX11440,EAX11441,EAX11442,EAX11443,AAH33867,AAA36614,CAA80256,Q04771,Q53SF4,Q53SV1 Hs.470316 GDB:216986 ACTRI|ACVRLK2|ALK2|FOP|SKR1|TSRI 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. 1598735,1580888,1580863,1559169 12065756,12665502,8622651,14517293,11117535,9884026,9032295,8397373,17906079,16720724,15489334,15459392,15196700,15123686,12651901,12639945,12477932,12364468,12112843,12032389,12023024,11969340,11909953,11279102,11278302,11266516,11248065,10652306,9892009,9501322,8612709,8196624,8058741,9738003,7791754,16189514,11356828 1598735,1580888,1559169 91 NM_004302,NM_020327,NM_020328,AC025259,CH471111,L31848,AL117643,BC000254,BC034008,BC040531,BT007072,L10125,L10126,U14722,Z22536 NP_004293,NP_064732,NP_064733,EAW58216,EAW58217,EAW58218,AAA53349,AAA53350,AAA53351,AAH00254,AAH40531,AAP35735,AAA60555,AAA60556,AAA50246,CAA80258,P36896 Hs.438918 GDB:230247 ACTRIB|ACVRLK4|ALK4|SKR2 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 12063393,15531507,16603637,15815621,15489334,15196700,15150278,15107418,12606401,12477932,11485994 130399 CS173113,CS173115,CS173117,AF525679,AF525680,AF525681,AW014016,AY127050,BC022530,BC030101,BI601014,NM_145259,NM_001111031,NM_001111032,NM_001111033,AC019186,AC079750,CH471058 EAX11445,EAX11446,CAJ33702,CAJ33703,CAJ33704,AAP21993,AAP21994,AAP21995,AAM93495,AAH22530,Q53SF5,Q8NER5,ABM86496,ABW03656,NP_660302,NP_001104501,NP_001104502,NP_001104503,AAY15093,AAX88951,EAX11444 Hs.562901 ACVRLK7|ALK7 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. 1580863,1559169 12213882,12135884,12032389,11969340,11882656,11266516,11069203,10746731,10702675,10681527,10638976,10504300,10323406,10187774,9872992,9748228,8702914,8640777,8622651,8612709,8243335,8242742,1646080,1311955,12665502,7890768,15621726,9032295,14738881,1314589,17356069,18001154,17472960,17456004,17258738,16672363,16380996,16337854,15815621,15489334,15451561,14988818,14691305,12667445,12651901,12477932,12385827 1559169 92 NM_001616,AC009480,CH471058,BC067416,BC067417,BC067418,BC069707,BX645435,D31770,M93415,X62381,X63128 NP_001607,AAX93050,EAX11561,EAX11562,AAH67417,AAH67418,AAH69707,BAA06548,AAA35504,CAA44245,CAA44839,P27037 Hs.470174 GDB:132411 ACTRII|ACVR2 activin receptor iia 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. 1300351,1580863,1559169 8622651,14517293,15621726,9916847,12493773,14738881,8161782,17356069,17893364,17347381,15489334,15451561,15342556,15123686,12782414,12651901,12477932,11969340,11882656,11459935,11306176,11279102,11278302,11266516,10766733,10702675,10391213,10212081,9748228,9621519,9202237,8702914,8612709,15304227 1300351,1559169 93 NM_001106,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 GDB:358991 ACTRIIB|ActR-IIB|MGC116908 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. 1580863,1598736,1300352,1601117,1300250,1601116,1559169 12065756,8242742,16752392,12453878,12393874,14684682,15702480,8928814,18312453,18187665,18159113,17786384,17620321,17388964,17311849,17224686,17219009,17068149,16941203,16861286,16785228,16776339,16705692,16542389,16540754,16525724,16470589,16429404,16179574,15951295,15880681,15712271,15712270,15687131,15611116,15517393,15489334,15024723,14702039,14580334,12920067,12477932,12114496,11484689,11356828,11279102,11278302,11170071,10767348,10716993,10694922,10187774,9651680,9245985,8717052,8640225,8397373 1598736,1300352,1601117,1300250,1601116,1559169 94 NM_000020,NM_001077401,A38805,AC025259,CH471111,U77707,U77708,U77709,U77710,U77711,U77712,U77713,AK056725,BC042637,CR596233,CR599504,DN999570,L17075,Z22533 NP_000011,NP_001070869,CAA02404,EAW58211,EAW58212,EAW58213,EAW58214,AAB61900,AAH42637,AAA16160,CAA80255,P37023 Hs.591026 GDB:230240 ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I 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. 1298689,1580863 1707030,8394326,17045186,16465618,16274666,16189514,15489334,12933810,12477932,8357837,6948533,2542383 1298689 95 CR608049,CR615795,CR619739,CR622490,CR622719,D14524,D16307,L07548,NM_000666,AC115284,CH471055,BC000545,BC003023,BC014112,CR594696,CR597055,CR604769,CR607052 BAA03397,BAA03814,AAA02852,Q03154,ABM82834,ABM87833,NP_000657,EAW65181,AAH00545,AAH03023,AAH14112 Hs.334707 GDB:118973 ACY1D|ACYLASE protein-coding 1353319 ACY1L aminoacylase 1-like 96 GDB:128121 1352202 ACY3 aspartoacylase (aminocyclase) 3 1580863 15489334,14656720,12477932 91703 NM_080658,AP003385,CH471076,AF359506,AY032593,AY040761,AY169233,BC008689 NP_542389,EAW74663,EAW74664,AAM00248,AAK51135,AAK94770,AAN87896,AAH08689,Q8TDM2,Q96HD9 Hs.126265 ACY-3|HCBP1|MGC9740 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. 1298556,1580863 7796909,3026468,15489334,14992377,12508121,12477932,12409302,9730610,2169259,1645713 1298556 97 NM_001107,NM_203488,AC007055,AL049780,CH471061,AW390293,BC035568,BE467248,BG614847,BX104912,X84194 NP_001098,NP_982355,AAD31937,EAW81216,AAH35568,CAA58987,P07311 Hs.18573 GDB:638808 ACYPE 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. 1580863 8268218,16084386,15670608,15489334,12477932,12409302,11799398,10542090,9395090,9070879,7796909,7487897,6100723,3026468 98 NM_138448,AC008280,AC073879,AC092622,AC108929,CH471053,BC012290,BF739886,CA308062,X84195 NP_612457,AAY14721,AAX88874,EAX00152,EAX00153,EAX00154,EAX00155,EAX00156,EAX00157,AAH12290,CAA58988,P14621,Q4ZFV7,Q53TK7 Hs.516173,Hs.642983 GDB:304769 ACYM|ACYP protein-coding 1344501 AD2 Alzheimer disease 2 (APOE*E4-associated, late onset) GDB:118748 1345672 AD5 Alzheimer disease 5 9333264,10712207 8081 GDB:641972 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. 1304201,1300251,1300353,1624289,1624292,1624286,1624305,1624309,1624290,1580863,1300048 16724628,16410722,16224193,16221767,16133068,15983379,15761857,15632314,15489334,15281007,15257174,15063762,15016824,14726805,12935677,12809673,12774669,12712614,12477932,12381379,12150791,12113294,12104097,11901152,11780052,11534018,11354825,11125033,11121182,10506947,9674425,9414266,9373149,9299436,9247966,9225964,9154805,8589684,8299233,8242080,8227344,8125298,8031011,3182793,8452534,9361033,11999881,16670267,7594462,14684150,7599635,8894685,11772392,7759315,18222177,18218852,17696452,17536804,17397971,17287605,17243920,17181544,16970880,16886895,16754522,7570001,7371221,6688808,6546794,6526272,6208479,6198240,6090454,3839802,3839456,3838797,3560174,3348976,3028473,3010705,2783588,2770711,1856451,1807098,1696926,1284479,11278278,10899322,9330696,9103436,16189514 1304201,1300251,1300353,1624289,1624292,1624286,1624305,1624309,1624290 100 NG_007385,AL139352,CH471077,M13792,X02189,X02190,Z97053,AK123988,AK223397,AL832305,BC007678,BC040226,BI601734,CR590997,CR597186,CR597421,CR606425,CR607668,CR609012,NM_000022,CR609053,CR610127,CR611818,CR612145,CR615818,CR618876,CR619472,CR621286,CR622485,CR622953,CR623349,X02994 NP_000013,CAH73885,EAW75904,EAW75905,EAW75906,EAW75907,AAA78791,CAA26130,CAB09782,BAD97117,AAH07678,AAH40226,CAA26734,P00813,ABM83607,ABM86850 Hs.654536 GDB:119649 protein-coding 1606972 ADAD1 adenosine deaminase domain containing 1 (testis-specific) 17558408,14702039,12477932,9541871,7543294 132612 NM_139243,AC022489,CH471056,AK057303,AK093297,BC040229 NP_640336,EAX05228,EAX05229,EAX05230,EAX05231,EAX05232,EAX05233,EAX05234,BAB71416,BAC04125,AAH40229,Q96M93,ABM84128,ABM84129,ABM87529,ABM87530 Hs.518957 FLJ32741|Tenr protein-coding 1602291 ADAD2 adenosine deaminase domain containing 2 14702039,12477932 161931 NM_139174,AC009123,CH471114,AF447586,AK093046,AK093523,AK131102,BC033491 NP_631913,EAW95491,EAW95492,EAW95493,EAW95494,AAM22869,BAC04032,BAC85152,AAH33491,Q6ZNJ3,Q8NCV1 Hs.8977 FLJ00337|TENRL protein-coding 1605272 ADAL adenosine deaminase-like 12477932 161823 NM_001012969,AC009852,AC018924,CH471125,AK126583,BC075857,BX647599 NP_001012987,EAW92598,EAW92599,AAH75857,Q6DHV7 Hs.533913 DKFZp313B2137|FLJ44620 protein-coding 1345474 ADAM1 ADAM metallopeptidase domain 1 (fertilin alpha) pseudogene 9032439 8759 AC003029,Y09232,NG_001216 GDB:9956842 FTNAP|Ftna|PH-30a 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. 1300252,1580863 8694785,12714508,12475894,18373975,18355445,18215140,17965014,17895248,17727679,17557115,17290285,17187903,16942750,16806063,16751190,16735514,16648485,16627989,16390331,16309826,16263699,16263114,16239146,16227584,15958533,15905513,15507448,15300588,15280425,15280379,15182369,14707550,14702039,14636066,14627705,12960155,12832423,17699774,12815056,12794186,12782344,12730960,12665519,12629514,12590602,12568494,12535668,12477932,12438920,12176995,12080182,11839628,11786905,11511685,11477090,10958785,10737800,10423016,9618175,9441766,9344679,9305925,9016778,7822279,7593158 1300252 102 NM_001110,AC018904,AC091046,CH471082,AF009615,AK023460,BC055087,BC104659,BC126253,BE934813,BX372217,CR621666,Z48579 NP_001101,EAW77539,EAW77540,EAW77541,AAC51766,AAI26254,CAA88463,A0AV88,O14672 Hs.578508 GDB:5952565 AD10|CD156c|HsT18717|MADM|kuz a disintegrin and metalloprotease domain 10 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. 1580863 9693107,8252040,15203218,15146197,14759258,12477932,11545539,11076863,7956356,7593158 4185 AAB29191 NM_002390,AC005180,CH471178,D31872,AB009675,CD630831,CD630842,CN418442,D17390 NP_002381,EAW51578,EAW51579,EAW51580,BAA06670,BAA06671,BAA32352,BAA04213,AAB29191,O75078,AAI11917 Hs.6088 GDB:230267 MDC a disintegrin and metalloproteinase domain 11 protein-coding 1317265 ADAM12 ADAM metallopeptidase domain 12 (meltrin alpha) 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. 1625347,1559174,1580863 16869727,16495931,16455653,16453284,16213489,16139919,15930294,15574885,15509542,15381692,15364951,15358598,15242759,14691998,12975309,12952982,12915587,12717386,12615925,12477932,12000744,12000741,11313349,11127814,11095942,10944520,10849447,10831617,10788519,9642263,9417060,15280379,10531379,7566181,18311789,18241035,18081311,17987603,17846126,17701664,17620406,17465398,17440933 1625347,1559174 8038 AF023476,NM_003474,NM_021641,AC022015,AC026226,AC063963,AL589787,AL691463,CH471066,AF023477,AK127856,AK291629,AY358878,BC060804,CB960379,CR596848,CR600916,CR611528,CR616307 EAW49208,EAW49209,AAC08702,NP_003465,NP_067673,CAI40681,CAI40682,CAI40683,EAW49205,EAW49206,EAW49207,AAC08703,BAF84318,AAQ89237,AAH60804,O43184,Q5JRP2 Hs.655388 GDB:9958807 MCMP|MCMPMltna|MLTN|MLTNA protein-coding 1342889 ADAM13 a disintegrin and metalloproteinase domain 13 8753 GDB:9956824 1351482 ADAM14 a disintegrin and metalloproteinase domain 14 8752 GDB:9956821 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. 1559176 16303743,15756594,15618016,15489334,15384173,15358598,15263807,14707550,12897135,12858436,12777399,12615925,12477932,12243749,12091380,11882657,11840679,11839628,11741929,10842103,10828588,10652535,9914169,9039960,9016778,8889548,8617717,10531379,9516430,18281484,17937806,17575078,17416588,17080222,16894352,16756724,16189514,15280379 1559176 8751 NM_207197,NM_207194,NM_207196,NM_207195,NM_003815,NM_207191,AF314227,AL451085,AL691442,AB209157,AK000667,AK075498,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,AAR99331,AAS72991,AAS72992,AAS72993,AAS72994,AAS72995,AAS72996,AAS72997,AAS72998,AAS72999,AAS73000,AAH14566,AAP88766,AAC50404,AAC51112,Q13444,Q59GF2,Q5SR69,Q6R267,Q71S61,Q71S62,Q71S63,Q71S64,Q71S65,Q71S66,Q71S67,Q71S68,Q71S69,ABW03624 Hs.312098 GDB:9956818 MDC15 a disintegrin and metalloproteinase domain (adam) 15 (metargidin) protein-coding 1345025 ADAM16 a disintegrin and metalloproteinase domain 16 8750 GDB:9956817 731400 ADAM17 ADAM metallopeptidase domain 17 (tumor necrosis factor, alpha, converting enzyme) This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene functions as a tumor necrosis factor-alpha converting enzyme; binds mitotic arrest deficient 2 protein; and also plays a prominent role in the activation of the Notch signaling pathway. 1559178,1580863,1300253,2292150 18442814,18373975,18355445,18276953,18171982,17999917,17942404,17786981,17714581,17608729,17438092,17405915,17360351,17227756,17155946,17081983,17010968,16982746,16942750,16912185,16900751,16806063,16641105,16478662,16376986,16336275,16332693,16279945,16246259,16210695,16179345,16148149,16079149,9574564,10527948,9034190,16034137,15983030,15784625,15691827,15337756,15309730,15308656,15182369,15146197,15102849,15066987,14970227,14625290,14532978,12972643,12947092,12832423,12810728,12755693,12743035,12730960,12714588,12711607,12706122,12668732,12621058,12606576,12568494,12535668,12477932,12474981,12441351,12207026,12147693,12135369,12058067,12044879,11988096,11733179,10882063,10860581,10433800,10224132,9806848,9620803,9520379,9034191,8889548,15280379 1559178,1300253,2292150 6868 NM_003183,AC073195,AC080162,AC092206,CH471053,AK289829,AY422721,BC062687,BC136783,BC146658,BM725368,BQ186514,BX339672,CN258241,U69611,U69612,U86755,U92649 NP_003174,AAX93142,AAY14859,AAX93091,EAX00981,EAX00982,BAF82518,AAH62687,AAI36784,AAI46659,AAB51514,AAB53014,AAB51586,AAC39721,P78536,Q53RF5,Q53RS1,Q53S40,Q6P5T8 Hs.404914 GDB:6045372 CD156b|MGC71942|TACE|cSVP a disintegrin and metalloproteinase domain 17 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. 1580863 10395895,15489334,12975309,12477932,12200459,9665629,9373149,8125298 8749 NM_014237,AC109633,AC136365,CH471080,AJ133004,AK225744,AY358321,BC034624,BC070279,BC121045,BC121046 NP_055052,EAW63276,EAW63277,CAB40812,AAQ88687,AAH34624,AAH70279,AAI21046,AAI21047,Q0VAI3,Q6IRW9,Q9Y3Q7 Hs.127930 GDB:9956813 ADAM27|MGC41836|MGC88272|tMDCIII a disintegrin and metalloproteinase domain 18 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. Alternative splicing results in two transcript variants. 1580863,1559267 17112471,16827870,15896713,15242783,14702039,12682046,12615925,12477932,12463424,12393862,12058067,12006600,11708814,11162584,11116142,10887142,9806848,9461614,8358434 1559267 8728 NM_033274,NM_023038,AC008676,AC008694,AC106801,CH471062,AF134707,AF311317,AF326918,AK091464,AK093535,AL049415,BC024214,BC033132,T05706,Y13786 NP_150377,NP_075525,EAW61595,EAW61596,EAW61597,EAW61598,AAF22162,AAK07852,AAG50282,AAH24214,AAH33132,CAC20585,Q8TBU7,Q9H013,AAI40324 Hs.483944 GDB:9956762 FKSG34|MADDAM|MLTNB a disintegrin and metalloproteinase domain 19 (meltrin beta) protein-coding 69085 ADAM2 ADAM metallopeptidase domain 2 (fertilin 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 subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. 1580863,68863 9041139,15489334,12477932,11882657,11784061,10518536,9889149,9070941,8702389,1602151,16189514,10837118 68863 2515 NM_001464,AC136365,AP005902,CH471080,AJ133005,BC034957,BC064547,BG719616,BI460477,U38805,U52370,X99374 NP_001455,EAW63273,EAW63274,EAW63275,CAB40813,AAH34957,AAH64547,AAD04206,AAC51110,CAA67753,Q6P2G0,Q99965,ABM82541,ABM85733 Hs.177959 GDB:4562627 CRYN1|CRYN2|FTNB|PH-30b|PH30 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. 1580863 9469942,12477932,11807715,10524237 8748 NM_003814,AF158643,AL357153,CH471061,AA400588,AF029899,BC025378 NP_003805,AAD55254,EAW81037,AAC52041,AAH25378,O43506,Q6GTZ1,ABW03729 Hs.177984 GDB:9956810 a disintegrin and metalloproteinase domain 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. 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 GDB:9956806 ADAM31|MGC125389 a disintegrin and metalloproteinase domain 21 protein-coding 1346763 ADAM21P ADAM metallopeptidase domain 21 pseudogene 16520872,10524237 145241 NR_003951,AF158640,AL160191,DQ202398 ABA43715 Hs.564671 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. 1580863 9693107,16868027,17884303,17681454,16990550,16385342,15882968,15876356,14759258,12853948,12589811,12477932,11050470,10524237,16189514 53616 NM_021722,NM_021723,NM_016351,NM_004194,NM_021721,AC004992,AC005075,AC005164,AF158642,CH236949,CH471091,AF073291,AF155381,AF155382,AF158637,AK125432,AK291010,BC036029,BC062433,BC092465,BC125117,BC125118,AB009671 NP_068368,NP_068369,NP_057435,NP_004185,NP_068367,AAP21878,AAS07417,AAD55253,EAW76913,EAW76914,EAW76915,EAW76916,EAW76917,EAW76918,BAA32350,AAF22476,AAF73288,AAF73289,AAD55251,BAF83699,AAH36029,AAH62433,AAH92465,AAI25119,Q08AL8,Q6P667,Q75MS7,Q86UM2,Q8IYE7,Q9P0K1,Q9UKK0,EAW76919,EAW76920,EAW76921,EAW76922,EAW76923,EAW76924,EAW76925,EAW76926,EAW76927,EAW76928,EAW76929,BAA32349 Hs.592282 GDB:9956802 MDC2|MGC149832 a disintegrin and metalloproteinase domain 22 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. 1580863 9693107,16103878,16094384,15862898,15146197,15146195,14697522,12477932,10749942,10524237,10506182 8745 NM_003812,AC009225,AC010731,AC079136,AF158641,CH471063,CS072966,AB009672,AJ005580,AK129906,BC132763,BC132765,CN399765,H11006 NP_003803,AAX93195,AAY14948,AAX93210,AAD55252,EAW70386,EAW70387,CAI93690,BAA32351,CAC20565,AAI32764,AAI32766,O75077,Q53RX4,Q53TC0,Q53TK5,Q9UKK1 Hs.591643 GDB:9956800 MDC3 a disintegrin and metalloproteinase domain 23 protein-coding 1346074 ADAM24 a disintegrin and metalloproteinase domain 24 11089 GDB:9956460 1350743 ADAM25 a disintegrin and metalloproteinase domain 25 11088 GDB:9956458 1354292 ADAM26 a disintegrin and metalloproteinase domain 26 11087 GDB:9956454 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. 1580863 10587367,17597069,17047053,16052521,15013428,12777399,12667064,11724793,10794709,10506182 10863 NM_014265,NM_021777,AC044891,AC120193,CH471080,AF137334,AF137335,AI475787,AI624552,AJ242015,BC136478 NP_055080,NP_068547,EAW63608,EAW63609,AAD25099,AAD25100,CAB42085,AAI36479,Q9UKQ2 Hs.174030 GDB:9958420 ADAM23|MDC-Lm|MDC-Ls|MDCL|eMDCII a disintegrin and metalloproteinase domain 28 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. 1580863 10512762,15802535,12477932,10644455 11086 NM_014269,AC105914,CH471056,AF134708,AF171929,AF171930,AF171931,AK292410,BC036070,BU176889 NP_055084,AAY41055,EAX04727,EAX04728,AAF22163,AAF03777,AAF03778,AAF03779,BAF85099,Q4W5F3,Q9UKF5,AAI66695 Hs.126838 GDB:9956451 svph1 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. 1580863 10512762,16710414,12975309,12477932 11085 NM_021794,AL359752,CH471122,AF171932,AF171933,AK292483,AY358734,BC028372 NP_068566,CAI18978,EAW56717,AAF03780,AAF03781,BAF85172,AAQ89096,AAH28372,Q9UKF2,ABM81876,ABM85038 Hs.283011 GDB:9956448 svph4 a disintegrin and metalloproteinase domain 30 protein-coding 1345583 ADAM32 ADAM metallopeptidase domain 32 1580863 17081983,15489334,15340161,12975309,12568724,12477932 203102 BC030698,BC034975,BI559590,BC026169,BC028702,BC030014,NM_145004,AC105091,AC105185,CH471080,AB209690,AK122608,AK129810,AK131038,AY172952,AY358739,BC026085 AAH30698,AAH34975,Q2VYF6,Q59EX1,Q6ZP86,Q6ZWL1,Q8TC27,ABM81836,ABM84987,AAH26169,AAH28702,AAH30014,NP_659441,EAW63282,BAD92927,BAC85489,BAC85238,AAO45696,AAQ89099,AAH26085 Hs.521545 FLJ26299|FLJ29004 a disintegrin and metalloproteinase domain 32 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. 1331525,1580863 11814695,18425216,17961406,17878941,17702965,17640346,17545039,17339047,17081983,17061022,16893396,16839403,16799089,16784537,16773130,16713569,16650044,16519819,16387804,16024651,15986064,15879414,15805180,15790980,15766253,15298558,15196271,15144468,14742294,14720258,14702039,14676211,14659745,14564349,12975309,12768445,12535637,12477932,12110844,11780052,15347848,15709049,15387895 1331525 80332 NM_153202,NM_025220,AF466288,AL109804,AL356755,CH471133,DQ995342,AB055891,AF466287,AF466289,AK092627,AK094070,AK095953,AK123015,AK126487,AK126498,AK226148,AL117415,AY223850,AY223852,AY223853,AY223854,AY223855,AY358314,BC062663,BC125112,BC125113 NP_694882,NP_079496,AAM80483,CAI18840,CAM26955,CAI23465,CAM28348,EAX10519,EAX10520,EAX10521,EAX10522,EAX10523,EAX10524,EAX10525,EAX10526,ABI97387,BAB83092,AAM80482,AAM80484,BAC03928,BAC04660,BAC86564,AAP15439,AAP15441,AAP15442,AAP15443,AAP15444,AAQ88680,AAH62663,AAI25113,AAI25114,Q08AM2,Q08AM3,Q6P5U4,Q6ZTM2,Q7Z7E0,Q7Z7E1,Q7Z7E2,Q7Z7E3,Q7Z7E5,Q8N6B9,Q8N8Z9,Q8NAI7,Q9BZ11 Hs.173716 GDB:11508756 DJ964F7.1|DKFZp434K0521|FLJ35308|FLJ36751|MGC149823|MGC71889 a disintegrin and metalloproteinase domain 33 protein-coding 1350597 ADAM3A ADAM metallopeptidase domain 3A (cyritestin 1) 12477932,11439107,9693117,9502432 1587 NR_001569,AC106011,AC123767,AJ005372,BC025386,BC042979,X89654,X89655,X89656,X89657 Hs.98848 GDB:6045442 ADAM3|CYRN1|tMDCI a disintegrin and metalloproteinase domain 3a (cyritestin 1) pseudo 1352596 ADAM3B ADAM metallopeptidase domain 3B (non-functional) 11439107,9502432,9284909 1596 NG_001526,AC007861,Y10615 CAA71622,O00504 GDB:6045443 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 GDB:9956839 1353792 ADAM5P ADAM metallopeptidase domain 5 pseudogene 632496 12477932,10417343,8786143 632496 255926 NR_001448,AC105185,AC106011,AJ132820,AJ132821,AJ132822,AJ132823,AJ132824,AJ132825,AJ132826,AJ132827,BC026083,BC047448,BC057230,BC067864 AAH67864,Q6NVV9 Hs.369765 GDB:9956836 ADAM5|TMDCII tmdc ii pseudo 1351124 ADAM6 ADAM metallopeptidase domain 6 14702039,9841928 8755 NR_002224,NG_001019,AB019441,AI024595,AK093400 Hs.662288 GDB:9956831 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 GDB:9956833 EAPI|GP-83 a disintegrin and metalloprotease domain 7 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. 1298587,1580863 9126482,17979891,17548643,17339047,16344560,15623614,12477932,12135759,11050116,10354553 1298587 101 NM_001109,AL592071,CH471211,CS174020,BC064500,BC115404,BM144968,BM146234,BQ007791,D26579,DA936506,DB142906 NP_001100,EAW61325,EAW61326,CAJ34536,AAI15405,BAA05626,P78325,Q14C66,Q5SXZ0 Hs.501574 GDB:4573992 CD156|MGC134985|MS2 a disintegrin and metalloproteinase domain 8 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. 1580863 12135759,12054541,11955914,11882657,11831872,11162558,10527948,9920899,9857183,9016778,8809033,7584028,7584026,10531379,8647900,17704059,17342749,17081983,17018608,16806063,16311053,15856464,15361064,15280379,15205330,14997207,12767059,12535668,12484779,12477932 8754 NM_003816,NM_001005845,AC105091,AC108863,CH471080,AF495383,AV708278,BC027996,BC126406,CR591969,CR601711,D14665,U41766 NP_003807,NP_001005845,EAW63283,EAW63284,EAW63285,AAM49575,AAI26407,BAA03499,AAC50403,A0AVL1,Q13443 Hs.591852 GDB:6093288 KIAA0021|MCMP|MDC9|Mltng 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. 1580863 9271581,18449420,16335952,15489334,14632642,12477932,12037602,11673514 27299 NM_014479,AC120193,CH471080,BC069582,BC074877,BC074878,Y13323 NP_055294,EAW63607,AAH69582,AAH74877,AAH74878,CAA73764,O15204 Hs.521459 GDB:11499733 M12.219 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. 1580863 11831030,11278559,10930576,10830953,10811842,10785405,10718198,10373500,10094461,9593739,12054626,8995297,10438512,18192475,18174457,18076023,17560840,17167179,16675485,16641089,16495931,16314835,16061471,15967414,15878613,15661359,15599946,15184385,14996435,14760803,14702039,12907688,12716911,12477932,12054629 9510 NM_006988,AP001598,AP001599,AP001697,CH471079,AB037767,AF060152,AF170084,AF207664,AK023795,AK129873,AL162080,AW163724,BC036515,BX647388,CR599440,CR600774,DQ108407 NP_008919,BAA95502,EAX09951,EAX09952,BAA92584,AAD48080,AAF15317,AAF23772,BAC85245,CAB82413,AAH36515,CAI46043,AAZ73034,Q5HYL0,Q6ZP79,Q8NE26,Q9UHI8,ABM87764,ABW03905 Hs.643357 GDB:9866051 C3-C5|KIAA1346|METH1 a disintegrin and metalloproteinase with thrombospondin motifs 1 (adamts-1) 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. 1580863 15368195,15358598,15355968,15203218,15146197,15094112,14598350,12477932,11941487,11167130 81794 NM_030957,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 GDB:11505587 ADAM-TS10|WMS 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. 1580863 17895370,17081983,16611630,15489334,12975309,12477932,11279086,11167130,10737800 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 GDB:11504473 PRO4389 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 at least three transcript variants encoding different isoforms. 1598737,1580863 16755777,16634765,16597588,16468327,16453338,16449289,16391894,16335952,16322474,16286459,16221672,16203734,16189276,16160007,16141351,16113782,16102037,15975930,15890682,15886321,15865866,15855280,15842379,15824096,15809291,15774620,15774619,15711742,15710227,15692254,15583740,15388580,15327386,15249683,15182579,15175818,15164053,15126318,15009467,15009458,14976043,14962303,14727263,14727259,14727257,14727256,14727255,14727254,14644076,14563640,14525793,14512317,14512308,12975358,11557746,12775718,11535495,18332284,18327408,18240172,18223285,18194418,18175284,18166799,18031293,17988227,17928530,17922807,17901248,17849048,17768109,17764538,17725738,17395589,17296575,17294528,17229645,17121983,17087728,17053057,17030346,17003922,16990571,16953270,16899464,16894459,16807643,16794526,12975309,12923577,12871391,12871390,12869506,12855569,12791682,12753286,12615692,12614216,12477932,12395148,12393505,12393399,12393397,12223999,12195022,12181489,12172456,12130486,12091372,12091044,12084165,12038781,11920264,11867212,11843286,11586351,11586344,11574066,11535494,11230166,11167130,9828245,9129011,8639782,8639781 1598737 11093 NM_139027,NM_139026,AL158826,AL593848,AY532929,AY532930,AY532931,AY532932,CH471090,NM_139025,DQ422807,AB069698,AF414401,AJ011374,AJ305314,AJ420810,AJ420811,AK124983,AK292439,AL136809,AW197188,AY055376,AY358118,BC034404,BC039251,BC103828,BC103829,BC103830 NP_620596,NP_620595,CAI12850,CAI12851,CAI12852,CAI17248,CAI17256,CAI17257,CAI17258,AAS54901,AAS54902,AAS54903,AAS54904,NP_620594,EAW88083,EAW88084,EAW88085,EAW88086,EAW88087,EAW88088,ABD72606,BAB69487,AAL11095,CAB66157,CAC83682,CAD12729,CAD12730,BAF85128,CAB66743,AAL17652,AAQ88485,AAH39251,AAI03829,AAI03830,Q3SYG5,Q49AF4,Q5T8S7,Q6QNA4,Q6QNA5,Q6QNA6,Q6QNA7,Q76LX8,Q9UGQ1 Hs.131433 GDB:9956467 C9orf8|DKFZp434C2322|FLJ42993|MGC118899|MGC118900|TTP|VWFCP|vWF-CP a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 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. 1580863 15913795,11867212,11779638,11741898 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,BAC87455,Q5T4G0,Q5T4G1,Q6ZR60,Q8WXS8,AAI40264 Hs.352156 GDB:11501128 FLJ32820 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. 1580863 16152618,15599946,15489334,12477932,11867212 170689 NM_139055,AP002986,AP003459,CH471065,AJ315733,BC109114 NP_620686,EAW67786,EAW67787,CAC86014,AAI09115,Q8TE58 Hs.681791 GDB:11505589 MGC126403 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15 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. 1580863 17519324,16507336,14702039,11867212 170690 NM_139056,AC010269,AC022424,AC091978,CH471102,AB095949,AJ315734,AK122980,AK127746,DQ266047 NP_620687,EAX08117,EAX08118,EAX08119,EAX08120,BAC23125,CAC86015,ABB70405,Q2XQZ0,Q8TE57,AAI40298 Hs.661915 GDB:11505591 ADAMTS16s|FLJ16731 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. 1580863 16344560,14702039,11867212 170691 NM_139057,AC015723,AC022710,AC084855,AC113187,CH471101,DQ217943,AA884550,AJ315735,AK057331,AK057529,AK131344,DB279404 NP_620688,EAX02261,EAX02262,EAX02263,ABB70740,CAC86016,BAD18500,Q2I7G4,Q6ZN75,Q8TE56,AAI52746,EAX02264 Hs.513200,Hs.706371 GDB:11505593 FLJ16363|FLJ32769 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. 1580863 17546048,16507336,15489334,14702039,12477932,11867212,8889548 170692 NM_199355,AC009139,AC010548,AC025284,CH471114,AF086229,AI792764,AJ311903,AK122677,AK131403,AY172951,BC063283,BM684970 NP_955387,EAW95598,EAW95599,EAW95600,EAW95601,EAW95602,CAC83612,BAC85503,BAD18550,AAO45695,AAH63283,Q2VYF7,Q6ZN25,Q8TE60 Hs.188746 GDB:11505595 ADAMTS21 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18 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 171019 NM_133638,AC008425,AC008528,AC008591,AC106781,AC129713,CH471062,AI366752,AJ311904,AK122622,AK128729,AW473680,CR597547 NP_598377,EAW62381,EAW62382,EAW62383,EAW62384,EAW62385,CAC84565,Q8TE59,AAI56493 Hs.23751 GDB:11505597 FLJ16042 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. 1598739,1580863 10417273,15373769,14730609,12477932,11788898,11741898,11167130,11076863,10464288,10094461,7735500 1598739 9509 NM_014244,NM_021599,AC008470,AC008544,AC010216,AC016557,AC034202,AC109479,CH471165,AI417257,AJ003125,BX479109,CO247372 NP_055059,NP_067610,EAW53815,EAW53816,CAA05880,O95450,AAI11460 Hs.591725 GDB:9957209 ADAM-TS2|ADAMTS-3|NPI|PCINP|PCPNI|hPCPNI a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2 protein-coding 1317084 ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 14702039,12562771,12514189 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 GON-1 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 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. 1580863 11741898,11167130,10464288,10094461,9205841,11408482,11812023,15708897,12477932,11831030 9508 NM_014243,AC093790,AC095056,AC104814,CH471057,AB002364,AF247668,BC016451,BC019707,BC130287,BC132735 NP_055058,EAX05651,EAX05652,BAA20821,AAK28400,AAH16451,AAI30288,AAI32736,O15072,Q96AY5 Hs.590919 GDB:9785709 ADAMTS-4|KIAA0366 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3 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. 1580863 14744861,10751421,10356395,18221525,18156631,18050214,18042673,18039650,17978660,17606262,17470431,17430884,17311924,17295438,17265492,17208315,17095512,17009305,16771712,16741450,16723216,16710414,16677612,16344560,16099106,16003758,15489334,15161923,14715656,14701864,14662755,14561220,12975309,12646579,12477932,12202483,11956193,11854269,11831030,11801682,11796708,11278559,11254106,11167130,10986281,10827174,10801887,10464288,10438522,10094461,9734811 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,AAH30812,AAH63293,ABC88384,O75173,Q2HYD0,Q8NEK2 Hs.211604 GDB:9957208 ADAMTS-2|ADAMTS-4|ADMP-1|KIAA0688 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4 protein-coding 1343923 ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 (aggrecanase-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 contains two C-terminal TS motifs and functions as aggrecanase to cleave aggrecan, a major proteoglycan of cartilage. 1580863 10438522,18240210,18156631,18042673,17991750,17978660,17430884,17265493,17265492,17211519,17067994,16507336,16133547,16003758,15599946,15489334,14715656,14702039,12477932,12392761,11956193,11854269,11831030,11801682,11231277,11167130,11032846,10830953,10464288,9688535 11096 AP001600,AP001601,AP001697,AP001698,CH471079,AF086358,AF141293,AF142099,AK094057,AK095905,BC093775,BC093777,NM_007038 NP_008969,BAA95503,BAA95504,EAX09948,EAX09949,AAF02493,AAD49577,AAH93775,AAH93777,Q9UNA0 Hs.58324 GDB:9956475 ADAMTS11|ADMP-2|FLJ36738 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (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. 1580863 16129570,12477932,11167130,10464288,8401585,7566098 11174 AY692426,BC010563,BC020916,BC071654,BG117513,CR749356,W05436,NM_197941,AC008847,AC008868,AC025176,AC025186,AC099505,AA318687,AA333577,AA907572,AB209685,AF140674,AK131039,AY692422,AY692423,AY692424,AY692425 AAW47399,AAH10563,CAH18209,Q59EX6,Q5IR87,Q5IR88,Q5IR89,Q5IR90,Q68DL1,Q6ZNM4,Q96FQ0,Q9UKP5,AAI56432,NP_922932,BAD92922,AAD56357,BAC85480,AAW47395,AAW47396,AAW47397,AAW47398 Hs.482291 GDB:9957031 ADAM-TS6 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. 1580863 16585064,12477932,11167130,10464288 11173 AC022748,CH471136,AB209497,AF140675,AL110226,AL359934,AY327122,BC061631,CB991707,NM_014272 NP_055087,EAW99148,EAW99149,EAW99150,EAW99151,BAD92734,AAD56358,CAB53684,CAB95770,AAQ94616,AAH61631,Q14F51,Q59FG3,Q6P7J9,Q9NPM2,Q9UFZ4,Q9UKP4 Hs.16441 GDB:9957027 ADAM-TS7|DKFZp434H204 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. 1580863 10438512,10610729,17606262,16570050,16152618,15328519,15296936,14702039,12477932 11095 NM_007037,AP002986,CH471065,AB209717,AF060153,AF175283,AK123706,BC089435,BC113874,BM988619 NP_008968,EAW67783,EAW67784,EAW67785,BAD92954,AAD48081,AAF25806,AAH89435,AAI13875,Q29RW5,Q59EU4,Q5FWF1,Q9UP79 Hs.271605 GDB:9956472 ADAM-TS8|FLJ41712|METH2 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. 1580863 10936055,12514189,16799631,16537537,16507336,15599946,14702039,12477932,11167130,10718198 56999 NM_182920,AC096888,AC122178,CH471055,AB037733,AF261918,AF488803,AK124945,BC026271,BC036770,BC130578,BX482310,CD103111,CR619556 NP_891550,EAW65434,EAW65435,BAA92550,AAF89106,AAO15765,AAI30579,Q9P2N4 Hs.656071 GDB:11499735 FLJ42955|KIAA1312 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. 17395588,16344560,15489334,15164053,14702039,14667842,12975309,12477932,11805097,9628581 92949 NM_052866,AL158150,AL353895,AL442638,AL449963,AL591423,CH471071,AF176313,AF251058,AI750970,AK092602,AK123028,NM_001040272,AK128724,AK290667,AK291956,AY358327,BC030262,BC100788,BC100789,BC100790,BX640951,CR740880,CX758410,DA549329,DA598045 NP_001035362,NP_443098,CAM14351,CAM14352,CAO03592,EAW58656,AAK84170,AAK34948,BAC03925,BAC87592,BAF83356,BAF84645,AAQ88693,AAH30262,AAI00789,AAI00790,AAI00791,CAE45975,Q496M7,Q496M8,Q5T707,Q6MZQ3,Q6ZQU1,Q8N6G6 Hs.522019 GDB:11505599 ADAMTSR1|C9orf94|DKFZp686L03130|FLJ35283|FLJ41032|FLJ46891|MGC118803|MGC118805|MGC40193|PUNCTIN protein-coding 1343515 ADAMTSL2 ADAMTS-like 2 1580863 15489334,14667842,12477932,9628581 9719 NM_014694,BX324209,BX629352,BX649571,CH471090,AB011177,AK127107,BC050544 NP_055509,CAI23592,CAM28356,CAI18773,CAM26559,EAW88095,EAW88096,EAW88097,BAA25531,AAH50544,Q86TH1 Hs.522543 FLJ45164|KIAA0605 protein-coding 1313018 ADAMTSL3 ADAMTS-like 3 17597111,14702039,14667842,12508121,12477932,10574462,9628581 57188 NM_207517,AC027807,AC087738,AC116157,CH471188,AB033059,AF237652,AK092324,AL109723,AL109724,BC128389,BC128390,BE646238,CR621245 NP_997400,EAW62418,BAA86547,AAK15041,BAC03862,AAI28390,AAI28391,P82987,Q8NAP9 Hs.459162 KIAA1233|MGC150716|MGC150717 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. 1580863 16364318,16710414,16335952,16189514,15498874,15489334,14702039,12975309,12706885,12477932,10842357,10737800,8889548 54507 BC071852,BC094811,BG005397,BM148104,BM721520,BX282114,BX370116,BX647294,CB960863,CB988088,CR592841,CR598356,CR599036,NM_019032,NM_025008,AL356356,CH471121,AF217974,AF289612,AF370411,AI637480,AK023606,AK092509,AK293037,AL122085,AL513944,AY358122,BC027478 AAH71852,AAH94811,Q6UY14,Q71RC7,Q8WYY2,Q9H8J7,Q9UFG7,NP_061905,NP_079284,CAI15499,CAI15500,EAW53542,EAW53543,AAG17217,AAL55796,AAQ15247,BAB14619,BAF85726,CAB59258,AAQ88489,AAH27478 Hs.516243 TSRC1 protein-coding 1313735 ADAMTSL5 ADAMTS-like 5 15489334,14702039,12477932 339366 NM_213604,AC027307,CH471139,AK131571,BC040620,BC119796,BC139833 NP_998769,EAW69486,EAW69487,EAW69488,EAW69489,EAW69490,BAD18703,AAH40620,AAI19797,AAI39834,Q0VD77,Q6ZMM2 Hs.371674 THSD6 thrombospondin, type i, domain containing 6 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. 1559268,1300254 18178553,17698644,17569068,17478391,17225010,17081983,17079286,17033168,17021765,17020943,16964243,16917490,16886895,16475990,16133458,16120648,16055709,15955093,15724015,15723802,15659327,15635413,15556947,15489334,15342791,15146470,15102079,14711814,14702039,12954622,12916015,12702817,12665561,12618436,12477932,12453429,12447867,12429827,12414985,12396729,12243919,11907222,11752786,11604520,11593027,11451992,11421361,10535945,10364558,10200312,7565688,9020165,18362360,9735305,9237992,8586444,7972084,7862132,7618288,7490742,3175763,11278278,10899322,9330696,9103436 1559268,1300254 103 NM_001111,NM_015840,NM_015841,AL592078,AL606500,AL691488,CH471121,U75503,AA449679,AB209891,AK097241,BC017853,BC038227,BE886208,BU430287,BX538232,BX640741,CD108625,CR602350,CR612377,CR982397,DR158819,EF190449,EF190450,U10439,NM_001025107,X79448,X79449,X98559,U18121 NP_001020278,NP_001102,NP_056655,NP_056656,CAI16182,CAI16183,CAI16185,CAQ08365,EAW53183,EAW53184,EAW53185,EAW53186,EAW53187,EAW53188,EAW53189,EAW53190,AAB97116,AAB97117,AAB97118,BAD93128,AAH38227,CAD98075,CAE45853,ABM73520,AAB06697,AAC13782,CAA55967,CAA55968,CAA67169,CAA67170,P55265,Q59EC0,Q5VT72,Q5VT73,ABW03910,ABW03600 Hs.12341 GDB:439344 ADAR1|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88dsRBP|TDRD10|p136 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. 1300255,1580863 18178553,17728516,17525170,17071493,16961545,16733555,16297572,16141067,15383678,15302935,14759258,14759252,14612560,12859334,12477932,12459255,12414985,12163487,11907222,11717408,10830953,9330641,9149227,9143496,9113993,9111310,8995285,8559253,11278278,10899322,9330696,9103436 1300255 104 NM_001033049,NM_015833,NM_015834,NM_001112,AL133499,AL163301,AP001579,BX322560,CH471079,Z95973,Z95974,Z95975,Z95976,AB194369,AB194370,AB194371,AB194372,AB194373,AF001042,AF525422,AF533142,AY082339,AY135659,BC030663,BC046198,BC065545,U76420,U76421,U76422,U82120,U82121,X99227,X99383 NP_001028221,NP_056648,NP_056649,NP_001103,CAB90493,EAX09357,EAX09358,EAX09359,EAX09360,EAX09361,EAX09362,CAB09392,BAE16325,BAE16326,BAE16327,BAE16328,BAE16329,AAB58300,AAM83100,AAM97654,AAL99252,AAN10291,AAH65545,AAC51240,AAC51241,AAC51242,AAB61686,AAB61687,CAA67611,CAA67762,O43263,P78563,Q4AE77,Q4AE79,Q4AE81,Q6P0M9,Q8NFA1,Q8TCX7 Hs.474018 GDB:3929206 ADAR2|ADAR2a|ADAR2a-L1|ADAR2a-L2|ADAR2a-L3|ADAR2b|ADAR2c|ADAR2d|ADAR2g|DRABA2|DRADA2|RED1 adenosine deaminase, rna-specific, b1 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 10836796,16344560,15635413,15164054,14702039,12477932,9272162,8889549,11278278,10899322,9330696,9103436 105 NM_018702,AC026224,AL392083,AL442069,AL450386,AL513304,CH471072,AF034837,AI695657,AK055107,AK057763,AK094294,AK289895,BC047443,BC137477,BC139725,BC140852,DA533361 NP_061172,CAH72169,CAH72170,CAH72171,CAH73405,EAW86508,AAF78094,BAF82584,AAH47443,AAI37478,AAI39726,AAI40853,Q5VW42,Q5VW43,Q86X17,Q9NS39 Hs.657984 GDB:3929209 ADAR3|FLJ25034|FLJ36975|RED2|hRED2 adenosine deaminase, rna-specific, b2 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. 10430867,14702039,12477932 23536 NM_012091,AC025287,CH471114,AF125188,AK001687,BC002758 NP_036223,EAW95625,EAW95626,EAW95627,AAD48376,BAA91837,AAH02758,Q9BUB4,ABM83927,ABM87246 Hs.188661 GDB:9993030 HADAT1 protein-coding 1320091 ADAT2 adenosine deaminase, tRNA-specific 2, TAD2 homolog (S. cerevisiae) 16344560,12477932,12457566,11181995,8889548 134637 NM_182503,AL031320,CH471051,AK126201,BC037955,BM680217,BX538182,CR616838,DA100320 NP_872309,CAD92490,CAD92491,EAW47867,EAW47868,AAH37955,CAD98054,Q7Z6V4,Q7Z6V5 Hs.709561 DEADC1|DKFZp686L1118|FLJ44213|TAD2|dJ20N2|dJ20N2.1 protein-coding 1603369 ADAT3 adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae) 12477932,12457566 113179 NM_138422,AC012615,BC011824 NP_612431,AAH11824,Q7Z2S3,Q96EY9 Hs.144980 FWP005|MST121|MSTP121|S863-5|TAD3 protein-coding 1606188 ADC arginine decarboxylase 11587527,18330478,17900240,17582600,17558447,16916800,16710414,15670771,15489334,14763899,14738999,14702039,12477932,11853319 113451 AL020995,CH471059,AB075825,AK057051,AK095127,AK122697,AL832640,AY050634,AY050635,NM_052998,AY050636,AY050637,AY050638,AY325129,BC010449,BC028128,CR593091 NP_443724,EAX07469,EAX07470,EAX07471,EAX07472,EAX07473,EAX07474,EAX07475,EAX07476,EAX07477,EAX07478,EAX07479,EAX07480,EAX07481,EAX07482,BAB85531,BAB71356,BAC04489,AAL08049,AAL08050,AAL08051,AAL08052,AAL08053,AAQ62560,AAH10449,AAH28128,Q96A70,ABM82980,ABM86174 Hs.101807 AZI2|KIAA1945|ODC-p|ODC1L protein-coding 1317936 ADCK1 aarF domain containing kinase 1 1580863 15489334,14702039,12477932,12471243 57143 CH471061,AK096919,AK126928,BC017459,BC058906,BX248292,NM_020421,AC008372 EAW81309,EAW81310,AAH58906,CAD62620,Q86TW2,Q9UIE6,NP_065154,AAF23326 Hs.413208 FLJ39600 protein-coding 1322312 ADCK2 aarF domain containing kinase 2 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.534141 AARF|MGC20727 protein-coding 1322771 ADCK4 aarF domain containing kinase 4 1580863 15489334,14702039,12477932,9110174,8619474 79934 NM_024876,AC010412,CH471126,AF052122,AK022291,AK057199,BC013114,BC013884,BC027473 NP_079152,EAW56987,EAW56988,EAW56989,EAW56990,EAW56991,BAB14004,AAH13114,AAH27473,Q96D53,ABM82617,ABM85800 Hs.130712 COQ8|FLJ12229 protein-coding 1313570 ADCK5 aarF domain containing kinase 5 16421571,15489334,14702039,12477932 203054 NM_174922,AF205589,CH471162,AK092773,BC031570,BC032402,BC064345,BC085013,BC101659,BI825038,BM146288,BU845476,CR605986,CR610562 NP_777582,EAW82111,EAW82112,EAW82113,EAW82114,AAH31570,AAH64345,AAH85013,AAI01660,Q3MIX3 Hs.283374 FLJ35454|MGC126708 protein-coding 1350082 ADCP1 adenosine deaminase complexing protein 1 279003 106 GDB:118975 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. 1580863 8314585,12626323,17586501,16531006,15361543,15133516,14702039,12853948,12743114,12690205,12503609,12477932,11549699,11299302,8692867,7959689,2121366,10808179,10807185,10089566,11884542 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 GDB:134407 AC1 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. 9874775,18209474,17591988,16344560,16144836,12958208,12609998,12477932,12475901,11932268,11875252,11423534,10915626,10737962,10446129,9694905 55811 AF271058,AF299350,AF331033,AL035122,BC117366,BC117372,DB063660,NM_018417,CH471067,Z99943,AF176813 AAF65931,AAF74296,AAK96045,AAL57036,CAA22684,AAI17367,AAI17373,Q96PN6,NP_060887,EAW90804,EAW90805,EAW90806,EAW90807,CAI20146,CAI20147 Hs.320892 HCA2|RP1-313L4.2|SAC|SACI|Sacy testicular soluble adenylyl cyclase 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. 1298711,1580863,1300048 1427768,16344560,15489334,14702039,12503609,12477932,11549699,11299302,10470851,9268375,9110174,8692867,8619474,7959689,10808179,10807185,10089566,11884542 1298711 108 NM_020546,AC010346,AC010437,AC024577,AC093305,AC113366,CH471102,CS072119,AB028983,AF070583,AF410885,AK123013,AK127036,BC111743,BE677757,BK000372,CR749634,DB029098,DB481853,L21993,X74210 NP_065433,EAX08097,CAI93390,BAA83012,AAC28647,AAP97285,AAI11744,DAA00058,CAH18428,AAA64923,CAA52282,Q08462,Q71UM8,Q7RTV6,Q9UDB2 Hs.481545 GDB:136978 AC2|FLJ16822|FLJ45092|HBAC2|KIAA1060|MGC133314 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. 70798,704368,1580863 9628581,8798667,8476432,8034296,7959689,10808179,10807185,10089566,11884542,9920776,17895882,17586501,17581954,16344560,16303743,15815621,15489334,14702039,12782409,12623444,12503609,12477932,12122055,11549699,11299302,11162902,9768837 70798,704368 109 NM_004036,AC012073,CH471053,AB011083,AF033861,AK027857,AK075424,AK095173,AK122926,BC020148,BC126235,DA864173 NP_004027,AAY14787,EAX00739,EAX00740,EAX00741,BAA25437,AAD13403,BAC11613,AAI26236,O60266,Q8NBM1 Hs.708074 GDB:371616 AC3|KIAA0511 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. 1580863,1300048 15489334,14702039,12503609,12477932,11549699,11299302,11055432,7959689,7766992,10808179,10807185,10089566,11884542 196883 NM_139247,AL096870,CH471078,AF086230,AF088070,AF497516,AK056745,AK122714,AK126468,AK131333,BC015982,BC027943,BC117473,BC117475,BX248285,BX537489 Q6ZTM6,NP_640340,EAW66023,EAW66024,EAW66025,EAW66026,EAW66027,EAW66028,AAM94373,BAB71270,BAC86560,BAD18492,AAH15982,AAI17474,AAI17476,CAD62613,Q6ZN83,Q86TZ7,Q8NFM4,Q96KY6 Hs.443428 GDB:371617 AC4 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 17110384,16973443,16641997,14702039,12604604,12503609,11549699,11299302,10481931,9748257,9275169,9268375,9096321,8206971,8034296,7759492,1379717,10808179,10807185,10089566,11884542 111 NM_183357,AC025571,AC112503,CH471052,AF497517,AK093840,AK098381,AK124691,BK000371,BX647739,U65473 NP_899200,EAW79450,AAM94374,DAA00057,AAD00121,O95622,AAI56218 Hs.593293,Hs.655144 GDB:371619 AC5 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. 1580863,1300048 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 112 NM_020983,NM_015270,AC117498,AF250227,CH471111,AB007882,AF250226,AK225224,BC064923,BF511227,BX537664,U65474 NP_066193,NP_056085,AAF82479,EAW58001,EAW58002,BAA24852,AAF82478,AAH64923,AAD00122,O43306,Q6LCE1,Q9NR74,Q9UDB0 Hs.525401,Hs.694408 GDB:371620 AC6|DKFZp779F075|KIAA0422 adenylyl cyclase 6 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. 1298709,1580863 7860067,17135423,16344560,15581358,15489334,14702039,12503609,12477932,12454008,11665607,11299302,9034014,7584028,7584026,10808179,10807185,10089566,11884542 1298709 113 AK093706,BC039891,BC098566,BC126271,BM543987,BU631614,CR625611,D25538,DA047753,NM_001114,AC007597,CH471092 EAW82755,AAH39891,AAI26272,BAA05021,P51828,Q86YI0,NP_001105,EAW82753,EAW82754 Hs.513578 GDB:371621 AC7|FLJ36387|KIAA0037 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 1580863,1300048 8163524,12626323,8076676,18163389,17586501,16613843,16258073,12890691,12503609,12477932,11457491,11299302,11076863,10075700,1715695,1427768,10808179,10807185,10089566,11884542 114 NM_001115,AC011974,AC037453,AC087341,AC103726,CH471060,DQ104739,DR003657,M83533,Z35309 NP_001106,EAW92135,AAZ13596,AAA35523,CAA84552,P40145,Q4F7X0,AAI11457 Hs.591859 GDB:136979 AC8|ADCY3|HBAC1 adenylyl cyclase 8 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. 1358365,1580863 9628827,17081983,16344560,15879435,14996950,12972952,12503609,12168954,12082561,11840511,11299302,9628581,8662814,7575502,10808179,10807185,10089566,11884542 1358365 115 NM_001116,AC005736,AY028959,CH471112,AB011092,AF036927,AJ133123,AU141090,AW518323,BC068612,BC136657,BC136658,BC151207,BC151229,BI770493,DQ005545,DQ008441 NP_001107,AAK29464,EAW85331,EAW85332,BAA25446,AAC24201,CAB65084,AAI36658,AAI36659,AAI51208,AAI51230,AAY21237,AAY27880,O60503 Hs.391860,Hs.610484 GDB:139183 AC9 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. 1300256,1580863 2302217,16805430,1730060,10698193,16939974,18349695,17962362,17470806,17430174,17387318,17175032,16888207,16697281,16687279,16493055,16226889,16148159,15834139,15518890,15489334,15356166,15048918,15036651,12948842,12754213,12716746,12686458,12573802,12504599,12477932,12429744,12417650,12409225,12409223,12145407,11972030,11968092,11713978,11515750,11350957,10921074,10583729,10562300,9313778,8504103,8394765,8353512,8253796,8146174,8012384,1739432,1483839,1335692 1300256 116 NM_001099733,NM_001117,AP000894,AY592943,AY592948,CH471113,X60435,Z64808,BC093837,BC101803,CR603595,DC320719,DN991692,S83513 NP_001093203,NP_001108,AAT92256,AAT92261,EAX01706,CAA42962,AAH93837,AAI01804,AAB21470,P18509,Q53BH1,Q53BH6 Hs.531719 GDB:128626 MGC126852|PACAP adenylate cyclase activating polypeptide 1 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. 1580863 12573802,12477932,12409233,12409223,11959368,11930171,10764955,10698193,10583729,10562300,10235634,9543159,8954788,8933357,8770902,8703026,16372333,16226889,15670850,15518890,14742913,12948842,12732341,12690205,7902709,16805430,16939974,17470806,16888199,16823490,16572459,16401644,8663363,8253796,7851900 117 NM_001118,AACC02000087,AB065700,AC006466,CH471073,U09216,AI815550,AK226138,AK290046,AY366498,AY462278,AY462279,AY495951,AY495952,BC117116,D17516 P41586,Q17S10,Q6RKA2,Q6RKA3,Q6S991,Q6S992,NP_001109,EAL24444,BAC05923,EAW93978,AAA19323,BAF82735,AAQ72806,AAR26314,AAR26315,AAR87870,AAR87871,AAI17117,BAA04466 Hs.377783 GDB:252253 PAC1|PACAPR|PACAPRI adenylate cyclase activating polypeptide 1 receptor 1 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. 1298717,1302895,631736,1331525,1624953,1580863,1559299 1840603,10823823,18475162,18458162,18413308,18398333,18393230,17984662,17921817,17825147,11728946,11711521,11528213,11518842,11447495,11283377,11116113,11110979,10950304,10585876,10516168,10391210,10209029,9679146,9674650,9149697,8946164,8810272,8663089,8626479,7959767,7774961,7490111,3600811,2976282,1345173,1284592,16189514,15110895,15097233,15059531,15055253,15039125,14733918,15187197,14643575,14553962,14530292,14508192,13679477,12885793,12697976,12623934,12477932,12427140,12394950,12195119,12195118,12172317,12107246,12082592,12052841,11926892,11918988,11918733,11882573,11847182,11775124,17472579,17452507,17765140,17301826,17267840,17189961,17083073,17082469,17081983,17051589,17003363,16970091,16724011,16702981,16615274,16612256,16531798,16497648,16450155,16420563,16392768,16314886,16289097,16266470,16100725,16080807,16043664,15910744,15834281,15824464,15822905,15815621,15773232,15716695,15608390,15554870,15493144,15378162,15326084,15302935 1298717,1302895,631736,1331525,1624953,1559299 118 NM_014189,NM_014190,NM_001119,AL121750,AL390065,BX465861,CH471131,L29296,Z68280,Z74617,AK025413,BC013393,BC042998,CR594983,CR611875,CR618963,NM_176801,CR936693,D44632,L07261,S70312,S70314,X58141 NP_789771,NP_054908,NP_054909,NP_001110,CAM21297,CAM21298,CAM21299,CAM25272,CAM25273,CAM25274,CAM25275,EAW82498,EAW82499,EAW82500,EAW82501,EAW82502,EAW82503,EAW82504,EAW82505,AAB05645,CAI95603,CAA98970,AAH13393,AAH42998,P35611,Q16155,Q4TT76,Q86XM2,Q96D30,CAA41149,AAB30913,AAB30914 Hs.183706,Hs.709056 GDB:134672 ADDA|MGC3339|MGC44427 adducin 1, 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. 1298717,1625293,1331525,1300257,1580863 1840603,18003638,17854487,17301826,7999065,7707875,7642559,7490111,16497648,16116087,16105548,15963851,15834281,15815621,15716695,15528469,15489334,15345747,15146197,14553963,14517477,12951058,12653680,12477932,12427140,11526103,10485892,9679146,9244430,8810272,8566798,8563174 1298717,1625293,1331525,1300257 119 S81079,S81083,AB209227,AF486420,AF486421,AF486422,AF486423,AK291007,BC008709,BC010237,BC011416,BC027876,BC041666,BC051882,BC056881,BC065525,CN428088,CR590670,U43959,NM_001617,NM_017488,NM_017483,NM_017482,NM_017484,AC005234,AC007395,AF001597,CH471053 EAW99800,EAW99801,EAW99802,EAW99803,EAW99804,EAW99805,EAW99806,EAW99807,EAW99808,AAD14349,BAD92464,AAP71863,AAP71864,AAP71865,AAP71866,BAF83696,AAH08709,AAH10237,AAH41666,AAH51882,AAH56881,AAH65525,AAA86421,NP_001608,NP_059522,NP_059517,NP_059516,NP_059518,AAD12715,EAW99798,EAW99799,Q05DK5,Q96HD4,P35612 Hs.188528 GDB:135160 ADDB adducin 2, 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. 1300354,1300258,1580863 8893809,18475162,17081983,15963851,15834281,15716695,15561718,15489334,12477932,11895774,10581174,10485892,9373149,8125298,2503523 1300354,1300258 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,Q0P608,Q53FL4,Q59EK1,Q5VU08,Q5VU09,Q9UEY8 Hs.501012 GDB:6045066 ADDL adducin 3, gamma protein-coding 1352182 ADFN albinism-deafness syndrome 122 GDB:118977 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 1625752,1580863 9003395,18188946,17927964,17620659,17446422,17322100,17200350,16936283,16884492,16808905,16489205,16391323,16230742,15545278,15489334,15336557,14707038,14671211,12591929,12477932,12387890,12114189,9799447,1518805 1625752 123 NM_001122,AL591206,CH471071,AF443203,BC005127,BE311586,CR536541,CR592339,CR597463,CR600009,CR600234,CR605429,CR615308,CR618768,CR620358,CR624951,X97324 NP_001113,CAI12265,CAI12266,CAI12267,CAI12268,EAW58648,EAW58649,EAW58650,EAW58651,AAL35614,AAH05127,CAG38778,CAA65989,Q5SYF3,Q5SYF5,Q6FHZ7,Q99541,ABM83903,ABM87224 Hs.3416 GDB:130960 ADRP|MGC10598 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. 1580863 2935875,2347582,18331377,17632320,17185388,16685648,16153155,15489334,15279067,14634838,12477932,12392591,12081471,11356310,11303599,10424757,3013304,3006456,2920825,2737681,2169444,1620113,9982 124 M12963,NM_000667,AC097530,AY948115,CH471057,M32656,M37066,AK290558,BC074738,BC117442,BC126306,BT019812,M12271 AAA68131,AAA51590,P07327,NP_000658,AAX20115,EAX06093,EAX06094,AAA52276,AAA51591,BAF83247,AAH74738,AAI17443,AAI26307,AAV38615 Hs.654433 GDB:119650 ADH1 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. 1580863 9982,2398055,18439068,18336668,18331377,18322963,18299763,18266839,18254707,18216179,18078815,18056758,18049455,18033686,17963305,17923853,17885622,17850643,17847010,17762315,17631643,17618743,17559546,17517051,17515815,17489985,17486761,17471563,17454860,17421009,17295732,17293864,17292341,17289126,17285601,17279314,17268812,17250612,17207821,17185388,17180580,17134660,17134659,17071628,17036331,16970620,16958672,16930209,16822169,16758956,16737450,16702384,16685648,16608143,16600530,16520888,16440362,16423594,16404797,16385179,16358724,16332725,16324524,16309369,16307179,16235983,16184481,16163053,16135443,16127737,16117582,16086315,16078602,16006997,15957670,15902904,15886702,15863807,15842823,15597094,15542751,15534263,15519646,15511718,15489334,15456134,15342556,15327835,15318112,15318096,15220553,15162847,15084894,14768474,14745297,14693654,14634838,12915519,12915514,12884000,12824748,12777946,12713190,12710951,12668919,12658118,12554615,12545748,12519453,12517056,12505800,12477932,12461493,12452180,12419833,12351924,12244546,12213289,12211622,12189549,12173598,12153842,12089173,12081471,12080432,11966948,11781511,11781503,11748356,11696658,11584144,11398342,11274460,11259352,11238183,11117576,11051375,10733556,10424757,8663387,8201622,6391920,6374651,3619918,3397059,3006456,3000832,2986130,2935875,2935533,2737681,2679216,2547609,2347582,2295648,2210383,2169444,1896463,11410735 125 M24316,M32657,X15447,AF153821,AI702614,BC033009,BP317995,BX641105,BX647469,D00137,M21692,M24317,X03350,M24308,NM_000668,AC097530,AF040967,CH471057,DQ017646,L38290 AAB59496,AAA52277,CAA33487,AAD37446,AAH33009,BAA00084,AAA51592,AAA51884,CAA27056,P00325,NP_000659,AAB96912,EAX06095,EAX06096,EAX06097,EAX06098,AAY22180,AAB48003 Hs.4 GDB:119651 ADH2|DKFZp686C06125 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. 1559302,1580863 17631643,17629074,17563066,17559142,17543846,17517051,17454860,17449906,17421009,17379229,17295732,17285601,17268812,17185388,17134660,17071628,17018785,16930209,16801984,16758956,16737450,16685648,16675441,16600530,16440362,16415175,16344274,16287084,16239350,16184481,16132793,2935875,6391921,18331377,18268116,18266839,18254707,18043297,17923853,17885622,17665311,1896463,16117582,16086315,16051248,16039674,16018848,15941567,15910847,15902904,15897724,15863807,15842377,15767341,15734975,15654505,15643610,15642852,15519646,15511718,15489334,15375565,15370874,15327835,15318112,15220553,15138216,14745297,14732773,14726542,14693654,14691069,14634838,14608084,12915519,12884000,12782305,12750236,12713190,12710951,12668919,12658118,12631283,12554615,12517056,12505800,12500098,12477932,12376487,12173598,11966948,11802217,11752857,11748356,11740346,11700261,11696658,11303599,11274460,11207350,11159741,11051375,11045794,10424757,10405330,8201622,7771649,3758060,3397059,3006456,2737681,2347582,2169444,1524834,9982 1559302 126 NM_000669,AC097530,AF031832,CH471057,D11067,DQ088981,M32658,BC062476,BC066227,BC066228,BC067419,BC067420,BC067421,BC067422,BC074771,BC074786,CB114902,M12272,X04299,X04350 NP_000660,AAC05739,EAX06099,EAX06100,BAC06856,AAY68222,AAA52278,AAH62476,AAH66227,AAH66228,AAH67419,AAH67420,AAH67421,AAH67422,AAH74771,AAH74786,AAC41757,CAA27842,CAA27876,P00326,Q71V49 Hs.654537 GDB:119652 ADH3 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. 1300048,1580863 3036213,3466164,18331377,17069770,16237392,16220108,15863808,15489334,14745297,12631290,12477932,11997393,11964133,11916005,11900616,11752456,11279029,11009184,9570155,8032153,1889753,1362387 127 AC019131,AP002026,AY974245,CH471057,X56411,X56419,AK290835,AV659364,BC022319,M15943,NM_000670 NP_000661,AAX59034,EAX06088,EAX06089,CAA39813,BAF83524,AAH22319,AAA51595,P08319 Hs.1219 GDB:119653 ADH-2 protein-coding 1351578 ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide This gene encodes glutathione-dependent formaldehyde dehydrogenase or class III alcohol dehydrogenase chi 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. Class III alcohol dehydrogenase is a homodimer composed of 2 chi subunits. 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. 1580863 8460164,18331377,17543375,17185388,16685648,15489334,14608084,12484756,12477932,12196016,12141816,12004059,10978156,10661511,9018047,8503936,8494891,7948423,6424546,3365377,2936344,2934732,2818582,2679557,1453005,1446828,16189514 128 AC019131,AY987960,CH471057,M81112,M81118,AK129570,AK226177,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,AAH14665,AAH70491,AAV38635,AAV38636,CAG38730,CAG46490,AAA51597,AAA79018,P11766,Q5U043,Q6FI45,Q6IRT1 Hs.78989 GDB:118978 ADH-3|ADHX|FDH|GSNOR protein-coding 1342497 ADH5B alcohol dehydrogenase 5B 285802 XM_208352 1344715 ADH5P1 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 1 1446828 129 GDB:125362 1342585 ADH5P2 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2 369013 1352662 ADH5P3 alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3 369014 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. 1580863 1593644,17185388,16685648,14702039,12477932,12050823,11095947,10975466,7695785,2198032,1881901,1755855 130 M84402,M84409,AJ278908,AK092768,BC039065,NM_001102470,NM_000672,AP002026,AY962311,CH471057 AAA35509,CAC10399,AAH39065,P28332,Q8IUN7,Q9H1A0,NP_001095940,NP_000663,AAX44051,EAX06090,EAX06091 Hs.586161 GDB:129087 ADH-5 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. 1580863 7876099,18331377,17921519,17918242,17486761,17185388,16685648,16180008,15456134,14502680,9373149,9228021,8824810,8195208,8125298,8082805,8074657,7925371,7876191,7771649,1592118 131 AP001960,CH471057,L47166,U16286,U16293,AK223472,BC131512,BX476080,CD697521,L33179,S77168,U07821,NM_000673,U09623,X76342 NP_000664,EAX06101,AAB38424,AAC51351,AAI31513,AAA59211,AAB34478,AAA19002,AAA82165,CAA53960,CAA53961,P40394,Q53F17 Hs.389 GDB:362911 ADH-4 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 16435184,16616524,15221005,14702039,12592711,12477932 137872 NM_144650,AC009879,CH471068,AB075879,AK056992,AY033237,BC047492,BC064634,BC110290,BE241883,BG698892,BQ182872,CB157325 NP_653251,EAW86901,EAW86902,EAW86903,EAW86904,EAW86905,EAW86906,EAW86907,BAD38661,BAB71335,AAK44223,AAH47492,AAH64634,Q8IWW8 Hs.268869 ADH8|FLJ32430|HMFT2263|HOT|MGC48605 protein-coding 1602478 ADI1 acireductone dioxygenase 1 15938715,14718544,11602742,17786183,17212658,15815621,15489334,15221005,14702039,12477932,9373149,8125298,17353931 55256 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 NP_060739,AAY24022,AAX82038,EAX01064,EAX01065,BAD38646,BAD10866,AAP97173,AAL25800,BAA91901,BAC86996,BAD96187,AAH01467,Q9BV57 Hs.502773 APL1|ARD|FLJ10913|HMFT1638|MTCBP-1|SIPL 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] 16132694,12477932,15567149 149685 NM_001018082,AL035419,CH471077,AA974242,BC029594,BC119704,BC119705,BX105371 NP_001018092,CAI19166,CAM27454,EAW76017,AAI19705,AAI19706,Q0VDE8,Q5TG32,Q5TG33,ABM82428,ABM85620 Hs.368028 KIAA1219|MGC149650|MGC39724|RP5-1100H13.2|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. 1599133,1599139,1599144,1599145,1599146,1599149,1599150,1642458,1642395 10095105,14718574,18465144,17241533,17239889,17229078,17222292,17209173,17205522,17192291,17189871,17184143,17178123,17143557,17141242,17123536,17119002,17118479,17113059,17112494,17112391,17095862,17084402,17081797,17080261,17065694,17065691,17065357,17054465,17052201,17033258,17030959,17019599,17011566,17006986,17005524,16995820,16990411,16978998,16955209,16954217,16944773,16939660,16933180,16926524,16921786,16896567,16894363,16891099,16877558,16872712,16864145,16822679,16806559,16804063,16802369,16801926,16801592,16788799,16741355,18451143,18429970,18425718,18424891,18404970,18398047,18362504,18344634,18328815,18319712,18315699,18311774,18300743,18299467,18299313,18294218,18292388,18289773,18288276,18280066,18259684,18241619,18239655,18239630,18239552,18239140,18230834,18230826,18230270,18223631,18198351,18198311,18192541,18191060,18182989,18179772,18175063,18159094,18096839,18084018,18071343,18063927,18059079,18054040,18036314,17992641,17992633,17991878,17984573,17984105,17980008,17973869,17970702,17967974,17966120,17965488,17965293,17949565,17945166,17939853,17939592,17932317,17923272,17914101,17911635,17903300,17900532,17893004,17890489,17879019,17822721,17786291,17785955,17714716,17712725,17712123,17709916,17705672,17562334,17526810,17521614,17505945,17495599,17490776,17486299,17468256,17454170,17452504,17445536,17445531,17426101,17426091,17420337,17399685,17389708,17383891,17374708,17357284,17348431,17342473,17335469,17334638,17334513,17332688,17325687,17325257,17322499,17311679,17303804,17287418,17277888,17264850,17264468,17259495,17259488,17702846,17697863,17687539,17686833,17684408,17684226,17679810,17678873,17663805,17652887,17651673,17630265,17625082,17624354,17618943,17616856,17611906,17604011,17601884,17585917,17575367,17573060,16735961,16731835,16685053,16678125,16675483,16670304,16648605,16644713,16644690,16631275,16621799,16618984,16609880,16608891,16607383,16586545,16574896,16570162,16567542,16565557,16554029,16552343,16547285,16546285,16545001,16530178,16529829,16525810,16497731,16443793,16443790,16443770,16421345,16419358,16418740,16407204,16404369,16403434,16380500,16380487,16373895,16358955,16352688,16335909,16331577,16324920,16256387,16254197,16253634,16231017,16210704,16204361,16203766,16170833,16160698,16157772,16140297,16139921,16135012,16123487,16122151,16118250,16115611,16111669,16109902,16106049,16078018,16055459,16039610,16028335,15955133,15942768,15936715,15928248,15926113,15920062,15920060,15919832,15919831,15919796,15905315,15902402,15897668,15897474,15889231,15877296,15877287,15877215,15875155,15864528,15863955,15862282,15855579,15855354,15855264,15850785,15842511,15830179,15803114,15798954,15798948,15797955,15797948,15794918,15793855,15780820,15778860,15769985,15760495,15757860,15757855,15749025,15745931,15743998,15736110,15736103,15735225,15734870,15734793,15701829,15692106,15690190,15684637,15677512,15648019,15618990,15616802,15616040,15616038,15598689,15598678,15590747,15588241,15583845,15563965,15562208,15547300,15544426,15528304,15504979,15502375,15489334,15476445,15454091,15371566,15334388,15333487,15331562,15319349,15292348,15292345,15292342,15292306,15277433,15248834,15246202,15239085,15231997,15220253,15220246,15210937,15209773,15200411,15181044,15178661,15167446,15161804,15132729,15132722,15123570,15116265,15096450,15081415,15070952,15063429,15057675,15055475,15047634,15044670,15010338,15001632,14988295,14983034,14961165,14766203,14764792,14752031,14749263,14747242,14747205,14739054,14733921,14715850,14715832,14699128,14693717,14681833,14675060,14673476,14671185,14671149,14654554,14633820,14633806,14607907,14602778,14557259,14551684,14551151,14522956,14514348,12970275,12944390,12923129,12882843,12878598,12876073,12870165,12860835,12855752,12843170,12832305,12829646,12829629,12827245,12827242,12803245,12802337,12788897,12788878,12788865,12788102,12766104,12765944,12750819,12736161,12728641,12727947,12716750,12713059,12694320,12679491,12679468,12679465,12679444,12679439,12663465,12660878,12660877,12660876,12660875,12634431,12611609,12547850,12540592,12517687,12496257,12477932,12473840,12436346,12429873,12388136,15369797,15340161,12378384,12354786,12153737,12086969,12086965,11912203,11812766,11756320,11700024,11571669,11479627,11162643,10982546,10961870,10918532,10741683,10403784,9765595,8947845,8631877,8619847,7592907 1599133,1599139,1599144,1599145,1599146,1599149,1599150,1642458,1642395 9370 NM_004797,AB012165,AC072018,AC112907,AJ131459,AJ131460,AJ131461,AJ131462,AJ131463,CH471052,AK291525,AL832470,BC054496,BC096308,BC096309,BC096310,BC096311,D45371,EU420013 NP_004788,BAA86716,CAB52413,EAW78165,BAF84214,AAH54496,AAH96308,AAH96309,AAH96310,AAH96311,BAA08227,ABZ10942,Q15848 Hs.80485 ACDC|ACRP30|ADPN|APM-1|APM1|GBP28|adiponectin 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] 1331376,1625761,1625762,1625763,1625764,1625765,1580863,1642395 12802337,18466348,18451143,18310295,18294218,18097620,17911635,17878241,17716299,17712104,17697862,17459059,17426101,17416799,17285539,17216283,17209173,17123704,17118803,17054465,17006986,17003341,17001470,16955209,16899222,16793963,16724230,16700915,16678125,16622416,16609881,16601138,16505255,16443913,16205883,16139921,16044242,16043761,16023994,15983228,15918014,15757860,15489334,15454091,15331527,15277397,15105989,14702039,14651988,12477932,10810093,9373149,8125298 1331376,1625761,1625762,1625763,1625764,1625765,1642395 51094 NM_001127687,AC096632,CH471067,AF125179,AF151803,AK001484,AK058114,AK124455,AK222503,AY424279,BC001594,BC010743,BX461217,CR590124,CR593948,CR596346,CR596678,CR597679,CR598544,CR599027,CR599130,CR601546,NM_015999,CR608908,CR609684,CR610443,CR610540,CR619012,CR625005,CR626149 NP_057083,NP_001121159,EAW91449,EAW91450,AAQ13552,AAD34040,BAD96223,AAR08367,AAH01594,AAH10743,Q53HS7,Q53YY6,Q96A54 Hs.5298 ACDCR1|CGI-45|CGI45|FLJ25385|FLJ42464|PAQR1|TESBP1A 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] 1331376,1625763,1625764,1625765,1642395 18294218,18075289,17716299,17697862,17459059,17426101,17416799,17216283,17209173,17123704,17118803,17054465,17006986,17001470,16955209,16899222,16724230,16700915,16678125,16609881,16601138,16505255,16205883,16139921,16044242,15983228,12802337,18466348,18310295,15918014,15757860,15489334,15454091,15331527,15105989,14702039,14651988,12477932,8889548 1331376,1625763,1625764,1625765,1642395 79602 NM_024551,AC005183,AC005343,CH471116,AK025085,AK127196,AK128511,AY424280,BC004906,BC051858,BM973815,CR591974,CR610048,CR613880 NP_078827,EAW88924,BAB15062,BAC86881,BAC87473,AAR08368,AAH51858,Q53YY5,Q86V24 Hs.371642,Hs.708545 ACDCR2|FLJ21432|MGC4640|PAQR2 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. 1300259,1580863,1300048 9070863,15489334,12820662,12477932,12112843,11242543,10215863,9843365,8917457,8577746,185014 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 Q5VXR3,Q5VXR4,Q86U79,Q9HB33,ABM92241,ABW03284,NP_006712,NP_001114,AAG13958,CAI39671,CAI39672,EAW54555,EAW54556,BAF83322,AAH03568,AAP35434,AAB01689,AAA97893,AAB50234,AAB50235,P55263 Hs.656586 GDB:118979 AK 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. 1625294,1625307,1625319,1625297,1625316,704370,1625296,1625299,1625300,1625301,1625302,1625303,1625304,1625305,1625310,1625312,1625318,1625333,1625298,1625317,1580863 9357065,9145435,8885746,8774254,8742029,8687431,8387282,8137955,8076689,7745031,7688224,8074714,10822232,11410113,8524787,12379507,18080871,18000597,17952853,17941085,17922433,17766467,17584073,17388661,17384335,17327422,17307261,17290391,17053041,17022943,16963041,16854513,16821090,16815566,16797107,16622024,16609682,16596251,16517613,16416151,16356592,16322067,16256216,16221100,16115629,16097366,15976103,15974887,15917349,15908101,15902095,15866060,15789277,15788445,15761041,15758554,15711093,15702240,15684700,15677761,15665526,15544858,15531734,15527794,15489334,15361766,15336545,15242974,15194870,15192039,15044509,15016771,14759562,14725946,14720432,14715486,14714580,14671210,14612905,14534081,14517225,12969589,12920627,12907107,12903912,12853384,12835224,12805025,12782295,12763641,12753312,12720100,12716843,12687457,12684703,12667630,9535752,12660258,12646214,12643861,12630824,12630823,12630817,12601625,12579522,12566732,12565880,12534591,12529288,12484513,12477932,12383875,12376296,12375542,12324915,12220731,12193565,12189226,12137974,11972292,11956648,11921363,11921362,11905404,11879669,11774814,11744163,11712085,11571480,11562782,11511315,11502838,11463752,11463574,11387328,11150646,11116141,10956553,10899511,10867102,10855685,10588445,9916958,9768331,9620797,9578982 1625294,1625307,1625319,1625297,1625316,704370,1625296,1625299,1625300,1625301,1625302,1625303,1625304,1625305,1625310,1625312,1625318,1625333,1625298,1625317 133 AC080023,CH471064,D43639,DQ143945,S73906,BC015961,BT006902,CR541995,CR590237,CR594627,CR594757,CR596960,CR599617,CR599806,CR600917,CR602691,CR603338,CR603539,CR606687,CR608713,CR609222,CR611442,CR612290,CR615072,CR615227,CR615242,CR615314,NM_001124,CR615821,CR619137,CR619174,CR619368,CR620623,CR621314,CR622013,CR622517,CR625658,CR626115,D14874 NP_001115,EAW68571,EAW68572,BAA07756,AAZ38717,AAC60642,AAH15961,AAP35548,CAG46792,BAA03589,P35318 Hs.441047 GDB:217070 AM 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 17965749,17346853,17008878,16359754,15461802,14706825,14702039,14615790,14615490,12477932,10591208 1303968 79924 NM_024866,AL096767,AB121034,AB236970,AF529213,AK024788,AK090635,AK092640,BC012864,BM910446,BX400262,CR456479 NP_079142,CAO03464,BAD07411,BAE46395,AAQ09100,BAB15004,CAG30365,Q3LFQ0,Q6IC89,Q7Z4H4,Q9H794,AAI41535,AAI46570,CAK54460,CAK54759 Hs.449099 AM2|FLJ21135|dJ579N16.4 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. 1580863 17878164,17345061,17081983,15489334,12477932,11780052,11013255,9872452 23394 NM_181442,NM_015339,AL034553,CH471077,AB018327,AF250860,AK074926,AL080163,BC015554,BC075794,BC090933 NP_852107,NP_056154,CAB53748,EAW75611,EAW75612,BAA34504,AAG47651,CAB45752,AAH75794,AAH90933,Q6DHZ8,Q9H2P0 Hs.570355 GDB:9955977 ADNP1|KIAA0784 protein-coding 1605090 ADNP2 ADNP homeobox 2 15489334,14702039,12477932,10048485 22850 NM_014913,AC090360,AC139100,CH471117,AB020670,AK022688,AK023032,AK292566,BC071589 NP_055728,EAW66646,EAW66647,BAA74886,BAB14180,BAF85255,AAH71589,Q6IQ32,ABZ92222 Hs.131915 KIAA0863|ZNF508 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 84890 NM_032804,AL133417,CH471083,AK027453,AK127694,AL049319,BC018660,BC028589,BC067740,CR611168 NP_116193,EAW54235,EAW54236,EAW54237,BAB55123,AAH18660,AAH28589,AAH67740,Q5W139,Q96SZ5 Hs.99821 C10orf22|DKFZp564C046|FLJ14547 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. 1625225,1625243,1331525,1625367,1580863,1625229,1625369,1625366,1300260 7818494,8360491,8450977,1530647,18281812,18052973,17901362,17728764,17542617,17088462,16709961,16344560,16118787,15489334,15485865,15257174,14997566,14702039,12974671,12920396,12826838,12825092,12812995,12773115,12764156,12477932,12475223,12150791,11934694,11703426,11390975,11369591,11278325,10890919,10521440,10502296,10487528,10455026,9247966,9166747,8889548,8300646,7601478,2825071,2541503,1662665,1551861,1339301,16189514 1625225,1625243,1331525,1625367,1625229,1625369,1625366,1300260 134 NM_000674,NM_001048230,AC105940,CH471067,AB004662,AK095060,AK127752,AK289928,AY136746,BC026340,BT019854,BU740906,CR541749,CR612499,DA343445,DB171678,L22214,S45235,S56143,X68485 NP_000665,P30542,Q6FHK3,ABM83304,ABM83305,ABM84210,ABM86518,ABM87615,NP_001041695,EAW91465,BAA20433,BAF82617,AAN01272,AAH26340,AAV38657,CAG46549,AAA17544,AAB23388,AAB25533,CAA48503 Hs.77867 GDB:126601 RDC7 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. 1331525,1625367,1580863,1300262,1300261 8794889,18305461,18246094,18218631,18215030,18197085,17872970,17616786,17599669,17591446,17558310,17512749,17474152,17329997,17257240,17132707,16969271,16917093,16824773,16818375,16361356,16344560,16339780,16280366,16184606,16118787,16027149,16022683,15987888,15774265,15734651,15719154,15704067,15539641,15489334,15461802,15461468,15351206,15257174,14715520,14702039,14666117,14525968,12933819,12856413,12837758,12825092,12804599,12784121,12634474,12477932,12429726,12406340,12237741,12080047,11934694,11717194,11532976,8522976,10899090,16805430,7818494,9262401,10051547,10945659,8360491,16939974,11140838,11125033,10974209,10951119,10391209,10326835,9369973,8670304,8135838,8088373,8020991,7775460,2541503,1835521,1662665,1438021,1426003,1331670,16189514,11515749 1331525,1625367,1300262,1300261 135 NM_000675,AP000355,CH471095,U20233,U40771,AK123058,AK289871,AY136747,BC013780,BT006999,CR456367,CR607919,CR611621,DA942067,EU036687,EU036688,EU036689,EU036690,EU036691,EU036692,EU036693,EU036694,M97370,X68486 NP_000666,EAW59658,AAB18370,AAA83270,BAF82560,AAN01273,AAH13780,AAP35645,CAG30253,ABS89237,ABS89238,ABS89239,ABS89240,ABS89241,ABS89242,ABS89243,ABS89244,AAA58356,CAA48504,P29274,Q93003,CAK54365,CAK54664 Hs.197029 GDB:126602 ADORA2|RDC8|hA2aR 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. 1580863 7558011,10101031,8022409,7836474,18351132,18056839,17565009,17428235,17301835,17077301,16778150,16707627,16631311,16103269,15769552,15637124,15550390,15489334,15187156,12939345,12600879,12477932,12080047,11906291,11579381,11125033,11048721,9914161,7790006,1551861,1325798 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 GDB:136339 ADORA2 protein-coding 1344356 ADORA2BP adenosine A2b receptor pseudogene 7558011 137 NG_000843,AL022398 GDB:438199 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. 1580863,1300263 9380026,9164961,9837869,8399349,18351132,17348028,17216675,17170310,16849509,16710414,16282197,16242072,15849244,15489334,15355922,15240539,15147729,14978250,14688204,12975309,12695530,12600879,12477932,12435805,12406340,12152652,11891221,11214319,11111832,9618527,9293494,8889548,8617363,8234299,7607699,17728764 1300263 140 L22607,X76981,NM_020683,NM_000677,AL390195,AL391063,AY011231,CH471122,L77729,L77730,S81868,AY136749,AY358644,BC029831,BC041707,BC064411,BM675096,DB447202,L20463,NM_001081976 AAA16365,AAA35949,CAA54288,P33765,Q5QNZ3,Q5QNZ4,Q5T2Q8,Q6LD47,Q6P2N6,Q9HBK8,ABM83375,ABM86587,NP_001075445,NP_065734,NP_000668,CAC36045,CAI15626,CAI15631,CAI15632,CAM21993,AAG35155,EAW56502,AAB02790,AAD14378,AAN01275,AAQ89007,AAH29831,AAH41707,AAH64411 Hs.281342 GDB:249573 A3AR|AD026|RP11-552M11.7|bA552M11.5 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 737633 83440 NM_031284,NR_023318,NR_023319,AC009712,CH471082,CS051413,AF204270,AK055526,AK075560,AL136873,AL832254,BC006112,BC018074,BC044589,BE018185,CR533447,DA031990,DA208247,DB279245 NP_112574,EAW77914,EAW77915,EAW77916,EAW77917,EAW77918,EAW77919,EAW77920,EAW77921,CAI72201,AAL31473,BAB70941,BAC11699,CAB66807,CAH10598,AAH06112,AAH18074,CAG38478,Q49AU7,Q69YR1,Q9BRR6 Hs.654636 2610017G09Rik|ADP-GK|DKFZP434B195 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 141 NM_001125,AC073352,CH471052,AK291787,BC020574,BC063883,BC074769,L13291 NP_001116,EAW79561,EAW79562,EAW79563,BAF84476,AAH63883,AAH74769,AAA35555,P54922 Hs.99884 GDB:226562 ARH1 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 113622 NM_199162,NM_138430,AL160251,CH471085,AJ313429,BC009755 NP_954631,NP_612439,CAI39433,CAI39434,CAI39435,EAX09208,EAX09209,CAC86114,AAH09755,Q8NDY3 Hs.98669 ARH2 protein-coding 1319201 ADPRHL2 ADP-ribosylhydrolase like 2 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 ADPRHL2, reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM] 17075046,17015823,16710414,16511307,16278211,15489334,14702039,12477932,12070318,9373149,8125298 54936 NM_017825,AJ313333,AL138787,CH471059,AF212236,AJ427295,AK000453,AK223037,BC014169,CR457237,CR593151,CR594747,CR595076,CR600346,CR604004,CR604726,CR607590,CR609775,CR611600,CR613086,CR619091,CR619499,CR621192,CR623438 NP_060295,CAC85940,EAX07389,EAX07390,AAK14922,CAD20316,BAA91174,BAD96757,AAH14169,CAG33518,Q9NX46 Hs.18021 ARH3|FLJ20446|dJ665N4.2 protein-coding 1353885 ADPRTL4 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 4 10591208 23783 NG_002623,AP000365 GDB:10795280 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. 1559318,1580863,1625780,1625770,1625775 9490024,7737411,10860850,10671514,8396931,8183249,18413308,18331634,18257748,17973108,17972277,17681068,17655760,17556657,17408692,17075692,16823803,16690783,16685204,16645408,16633140,16536786,16153395,16043131,15946947,15917235,15824464,15626751,15525470,15474515,15297446,15179408,15136785,12782672,12707939,12544508,12519093,12477932,12409310,11425010,11154706,10587338,10493934,10334511,9359081,8832064,8564208,8024574,7815325,7805763,1970822,1363873,14626446 1559318,1625780,1625770,1625775 148 AF013261,AF395806,AK289548,AY491775,AY491776,AY491777,AY491778,AY491780,AY491781,BC095512,D25235,D32201,D32202,L31774,S76001,U02569,NM_033302,NM_033304,NM_000680,AB065703,AC015564,AC022839,AC091675,AY389505,CH471080,EU326301,U03866,U08994,NM_033303 AAA18783,AAC06138,AAK77197,BAF82237,AAR84644,AAR84645,AAR84646,AAR84647,AAR84649,AAR84650,AAH95512,BAA04960,BAA06900,BAA06901,AAB59486,AAD14205,AAA93114,P35348,Q4VBM7,Q6LD06,Q7KYZ9,Q96RE8,Q9UD67,NP_150646,NP_150645,NP_150647,NP_000671,BAC05926,AAQ91331,EAW63569,EAW63570,EAW63571,EAW63572,ACA05899,ACA05901,ACA05903,ACA05905,AAB60353 Hs.709175 GDB:128088 ADRA1C|ADRA1L1|ALPHA1AAR adrenergic receptor, alpha 1a 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. 1559318,1580863,1625771,1625772 1328250,2154750,10820200,18257748,17973108,17681068,17365508,17220353,16645408,16352594,16297597,15824464,15690361,15525470,15297446,15220331,14736874,14626446,12695539,12644451,12409310,12023679,10652206,9481484,9353340,8617782,8183249,8024574,7815325,1706716,1662393 1559318,1625771,1625772 147 NM_000679,AC011343,AC068657,AC127458,CH471062,M99589,M99590,BC136568,BC136569,BQ576306,L31773,U03865 NP_000670,EAW61572,AAI36569,AAI36570,AAB59485,AAB60352,P35368 Hs.368632 GDB:127901 ADRA1|ALPHA1BAR 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. 1559318,1580863 10820200,10969806,1656955,10860850,7746284,18257748,18187928,17973108,17681068,17660397,17404580,17384146,16533813,15690361,15525470,15297446,12442007,12409310,14736874,14626446,11780052,8183249,8125015,8039425,8024574,7815325,1359975 1559318 146 NM_000678,AL121675,AL357040,CH471133,D29952,L31772,M76446,S70782,U03864 NP_000669,CAC00601,EAX10455,BAA06222,AAB59487,AAA35496,AAB31163,AAB60351,P25100,Q5VXR2 Hs.557 GDB:118749 ADRA1|ADRA1A|ADRA1R|ALPHA1|DAR|dJ779E11.2 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. 1559309,1331525,1358368,1580863,1625183 10896916,1354394,9624180,2823383,6259160,18314873,18200436,18075481,17971028,17894416,17655843,17655760,17612790,17544870,17522710,17512307,17283289,17215105,17159089,17081983,17075692,17034020,16917924,16869226,16854373,16823803,16809338,16806103,16728691,16636200,16605244,16583406,16567612,16531006,16513442,16464220,16389583,16333651,16178932,16172611,15939803,12023679,12019440,11888275,11886485,11732925,11475011,11467765,11425010,11343863,11248750,11140838,11039642,10948191,10647009,10224112,9235896,8226727,8098045,8011430,7887906,7876239,2568356,2170371,1849485,1678850,1678390,1385431,1334200,15782186,15920038,15824464,15795790,15719258,15719154,15717291,15653687,15592690,15520832,15494033,15489334,15199368,15164054,15138209,15070958,15028622,15006432,12946937,12815749,12707939,12627476,12544508,12529373,12477932,12370125,12080184,12054508 1559309,1331525,1358368,1625183 150 NM_000681,AF262016,AF281308,AF316894,AL158163,AY032736,CH471066,DQ149926,DQ285607,EU332846,M18415,M23533,AF284095,BC035047,BC050414 NP_000672,AAG00447,AAF91441,AAK01634,CAH72817,AAK51162,EAW49547,AAZ73101,ABB72683,ABY87535,AAA51664,AAA51665,AAK26743,AAH35047,AAH50414,P08913 Hs.249159 GDB:120538 ADRA2|ADRA2R|ADRAR|ALPHA2AAR|ZNF32 adrenergic receptor, alpha 2a 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. 1559314,1559315,1559313,1580863,1300265 2164221,18054844,17660814,17625217,17620957,17595424,17516297,17410123,17370102,17277585,17039423,16907703,16776624,16645408,16336817,16269962,16247508,15920038,15900285,15900214,15893292,15864138,15864122,15815621,15731590,15719258,15592690,15309292,15166301,15037199,14744925,12946937,12917501,12822042,12629104,12535806,12519093,12477932,12401126,11753579,11345359,11140838,11056163,10647009,10404816,10224112,9435676,9235896,3012234,2842764,2173582,2172775,2169434 1559314,1559315,1559313,1300265 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 GDB:120539 ADRA2L1|ADRA2RL1|ADRARL1|ALPHA2BAR aadrenergic, alpha-2b-, receptor 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. 1300355,1580863 9371698,10196213,18320080,18308161,18075481,18071056,17971028,17655760,17644575,17496726,17383306,17351367,17223428,17192578,17075692,16636200,16605244,16569551,16464220,16407897,16299019,16187973,15946904,15920038,15861038,15719258,15683753,15592690,15542284,15345481,15319474,12946937,12374873,12210281,11317218,11140838,10945659,10801795,10647009,10224112,9235896,8188260,7688069,2842764,1849485,1349607 1300355 152 NM_000683,AC141928,AF280399,AF280400,AY455666,AY605898,D13538,EU332833,U72648,X72924,BC142625,J03853 NP_000674,AAY41059,AAG28076,AAG28077,AAR18071,AAT02221,BAA02737,ABY87522,AAC78723,AAI42626,AAA35513,P18825,Q4W594 Hs.123022 GDB:120540 ADRA2L2|ADRA2RL2|ADRARL2|ALPHA2CAR adrenergic receptor, alpha 2c 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. 737773,1559319,737774,1331525,1580863 17334644,17329986,17270896,17223428,17217681,17118120,17023080,16997396,16946993,16940053,16914520,16907703,16844790,16815314,16785856,16765375,16760361,16728691,16648137,16534528,16500896,16487965,16485781,16421173,16402084,16325708,16315032,16287427,16227135,16210433,16189366,16187973,16153393,16122377,15917856,15861037,15833937,15824464,15735607,15719258,15685248,15564877,15542284,15479221,15464701,15388645,15358775,15342173,15331590,15312808,15237695,15212839,15212591,15086532,15079793,15055253,14990580,14734649,14553962,14534524,14502278,12921807,12851615,12847069,12844134,12815745,12724327,12709726,12643891,12544508,12529373,12519093,12455717,12422153,12391161,12374873,12270132,12244098,12197595,12140284,12106601,12090746,12069593,12032746,12029453,12023679,11942593,11854867,11753577,11700307,11526121,11447084,11337934,11140838,11052857,10995758,10862778,10794544,10535961,10477438,9843378,8892658,7583452,6305985,2825170,2536864,2465637,2154750,15864115,10212248,16316992,18479335,18452871,18429752,18413560,18413308,18346809,18331634,18323523,18308161,18298953,18253135,18239290,18219297,18209576,18193079,18158268,18155231,18075464,18059082,17998459,17919552,17893006,17845930,17680533,17667029,17644825,17635183,17591269,17585213,17541557,17512307,17496726,17463065,17383306,17345787,17339538,17335470 737773,1559319,737774,1331525 153 NM_000684,AF169006,AF169007,AL355543,AY567837,CH471066,J03019 NP_000675,AAD53696,AAD53697,CAI16920,AAS66983,EAW49485,AAA51667,P08588,Q5T5Y4 Hs.99913 GDB:119654 ADRB1R|B1AR|BETA1AR|RHR adrenergic receptor, beta 1 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. 1559320,1559319,737773,1598757,1598759,1580863,1598745,1598746,1598754,1331525,1601119,1601124,1601120,1601121,1601125,1601123,1578728,1601122,1601126,1601127,1601128 9235896,18479335,18473266,18440968,18426866,18423577,18413560,18413308,18399855,18393130,18383333,18379861,18334922,18331634,18316360,18303970,18267980,18253135,18249219,18247304,18239290,18238958,18219297,18193079,18159608,18156980,18156033,18086673,18075464,18068431,18065472,18024720,17998459,17998016,17996646,17993585,17963627,17962520,17962519,17952055,17925066,17919552,17907319,17893006,17890463,9228019,15123695,9560162,9924018,2823249,10734107,9507004,16779985,16772309,16771114,16763224,16754519,16741943,16740612,16728691,16714291,16685203,16683069,16672841,16670773,16651467,16636198,16618831,16615274,16596417,16585076,16573811,16571957,16569551,16563272,16554384,16551744,16537879,16493638,16467650,16461848,16449022,16448568,16420563,17883727,17845212,17824821,17716866,17700364,17673687,17667029,17664853,17644825,17635908,17621827,17621313,17600229,17595424,17591269,17573413,17569809,17561373,17531924,17512307,17510209,17502834,17493936,17460547,17439327,17428813,17383306,17378367,17374341,17356698,17347382,17345787,17336757,17329986,17303378,17297203,17292646,17270896,17267840,17255556,17243909,17223428,17221209,17210860,17200117,17199132,17198546,17178264,17159089,17150099,17143563,17138565,17132602,17130852,17117186,17099033,17094995,17077128,17075257,17068824,17054017,17036337,17027833,17020471,17003099,16996249,16971769,16955193,16946993,16935688,16931635,16920721,16907703,16899844,16894395,16893516,16875498,16873402,16849635,16785856,16783489,17885618,16142389,16100145,16054001,16041242,16027735,16027244,16009000,16004558,15994241,15987731,15976384,15959859,15956122,15946904,15939803,15931235,15920038,15917856,15879435,15867853,15861037,15853829,15840289,15833937,15833737,15824464,15817638,15817484,15806595,15797659,15794198,15719258,15703163,15687340,15644445,15638826,16417856,16412099,16409205,16407241,16395068,16374847,16369120,16369119,16339181,16338281,16322642,16301860,16289313,16286511,16280323,16280290,16251889,16227135,16207148,16205624,16197474,16189366,16188057,16172412,16164442,16153394,11956670,11942593,11941588,11941312,11921496,11884023,11882399,11879211,11877451,11854867,11836685,11821707,11821698,11809992,11809767,11798846,11798553,11785682,11778498,11775127,11775126,11739457,11735081,11718682,11713125,11713122,11706779,11466580,11441182,11434877,11380082,11371409,11309381,11306963,11288039,11278940,11278447,11258696,11246538,11246467,11238007,11230287,11229437,11214319,11192234,11147800,11146000,11039642,11013230,10858453,10753752,12008746,10606977,10499588,9880537,9830057,9819198,9671706,9399946,9373149,14615367,14610528,14610472,14573333,14557486,14557466,14553962,14510956,14510910,14500986,13680034,12905693,12900437,12888635,12885990,12869379,12835612,12832031,12824951,12822042,12807170,12740450,12727985,12716862,12682000,15634674,15618708,15596681,15578262,15563584,15557128,15554460,15542284,15520258,15506640,15498794,15493717,15492118,15480095,15480094,15479221,15464701,15388645,15364898,15355441,15342173,15334382,15329337,15323067,15297801,15284533,15282385,15249444,15248848,15245435,15212591,15170877,15166301,15155261,15153795,15147203,15126009,15079793,15069780,15016730,14981808,14981238,14748897,14734649,14715679,14709719,14693408,14678347,14678342,14665698,14657864,14655898,14650112,8892658,8662852,8557631,8386307,8383511,8125298,7915137,7901205,7797501,7706471,7680566,7608160,3034889,3033609,3026848,3025863,2837466,2831218,2564629,2541947,2540197,2471981,2470898,2154750,1848190,1663718,1371121,154,12621035,15782186,12628991,12605574,12574108,12569260,12563174,12544508,12527744,12519093,12502697,12477932,12629568,12474986,12442007,12441217,12439523,12436935,12429837,12428391,12422339,12409304,12394950,12391272,12390345,12361188,12297500,12244098,12215468,12167654,12164325,12142724,12142723,12142540,12140284,12111048,12106601,12083965,12083963,12082592,12080445,12077726,12075579,12065131,12030897,12023679 1559320,1559319,737773,1598757,1598759,1598745,1598746,1598754,1331525,1601119,1601124,1601120,1601121,1601125,1601123,1578728,1601122,1601126,1601127,1601128 154 NM_000024,AC011354,AF022953,AF022954,AF022955,AF022956,AF169225,AF202305,AF203386,AY011291,CH471062,DQ094845,J02960,Y00106,AK223025,AY136741,BC012481,BC063486,BC073856,CR595085,M15169,X04827 NP_000015,AAB82148,AAB82149,AAB82150,AAB82151,AAD48036,AAF17569,AAF20199,AAG35451,EAW61798,AAY88739,AAA88017,CAA68289,BAD96745,AAN01267,AAH12481,AAH63486,AAH73856,AAA88015,CAA28511,P07550,Q53GA6,Q6GMT4,Q6P4D8,Q96EC3,Q9BYZ0,Q9UCZ0 Hs.591251 GDB:120541 ADRB2R|ADRBR|B2AR|BAR|BETA2AR adrenergic receptor, beta 2 2289514,2289517 BW456_H,BW455_H protein-coding 737467 ADRB3 adrenergic, beta-3-, receptor The ADRB3 gene product, beta-3-adrenergic receptor, is located mainly in adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Beta adrenergic receptors are involved in the epenephrine and norepinephrine-induced activation of adenylate cyclase through the action of G proteins. 1559325,1559326,1559323,737773,1580863,1331525,1300267 15543217,15536594,15489932,15489334,15479221,15472194,15464701,15355441,15340101,15334382,15334374,15318095,15302798,15193960,15192823,15179018,15166301,15079793,15061987,15042014,14747257,14742851,14739355,14715679,14713387,14708035,14690019,14671190,14510956,14506613,12962933,12917707,12824951,12739037,12739018,12732844,12709137,12690078,12670949,12647276,12629568,12568179,12561621,12544508,12477932,12453902,12442007,12411100,12410955,12406043,12370850,12241539,12169859,12164325,12133431,12082592,12062855,12037740,17345789,17345787,17342473,17299491,17299381,17270896,17264845,17225053,17190106,17124363,17087055,17046546,16820065,16779985,16715838,16648810,16493638,16449022,16444766,16408483,16369102,16320158,16301818,16286518,16276029,16054001,16027735,16009000,15959859,15956122,15942638,15939803,15917856,15915764,15833937,15824464,15751274,15743038,15670186,15641247,15613846,15585565,15563584,9892244,15123695,1718744,2570461,18482921,18441513,18426866,18422027,18393130,18335327,18331634,18273796,18249219,18249022,18239290,18088254,18054709,17999941,17998022,17989355,17940985,17910280,17852419,17786291,17785925,17727676,17640319,17631141,17626108,17624182,17616777,17591269,17512307,17476189,17445027,17439327,17378367,11984699,11949887,11882399,11875710,11872697,11854867,11808891,11798745,11769635,11743057,11743056,11716317,11706779,11699048,11592045,11576322,11573151,11532330,11522702,11466580,11439286,11434877,11380082,11315829,11288809,11287026,11244458,11229427,11213599,11206402,11147800,11095426,11093283,11013230,10999801,10805511,10786926,10391210,9126344,8721782,8641219,12008746,8389717,8389293,8380813,8288218,8011597,7898940,7609752,7609625,7565630,1336117 1559325,1559326,1559323,737773,1331525,1300267 155 NM_000025,AC144573,CH471080,DQ104441,M29932,X70812,X72861,AK293033,AY487247,BC075017,S53291,X70811 NP_000016,EAW63343,EAW63344,AAY88743,AAA35550,CAA50142,CAA50143,CAA51383,BAF85722,AAR37414,AAH75017,AAB24837,CAA50141,P13945 Hs.2549 GDB:203869 BETA3AR 2289520 BW458_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. 1580269,737775,1580863,632163,1625784,1625786,1625788,1625789,1625791,737776,1625790 17986524,12750365,12679936,12639913,12624098,12552191,12507501,12486133,12477932,12456365,12435819,12379128,12351722,12163475,12130708,12130691,12123746,12107237,11762794,11517230,11309381,11278469,11042191,11040053,10896954,10884381,10861009,10858453,10852916,10754297,10744734,10727525,10722682,10617630,10574913,10467231,10379886,10091590,10085131,10085129,9826657,15051637,18425130,1339451,18369319,17998459,17544362,17482545,17276003,17256744,17146290,17102134,17055984,17008309,17006543,17000469,16984558,16920721,16849637,16725308,16605244,16356165,16121194,16081410,16077899,15919661,15870073,15843435,15778405,15653687,15618519,15542600,15489334,15471870,15271984,15097244,14997482,14729942,14654844,14557268,12885252,9618528,9501202,9446593,8885248,8662816,8195124,7876239,7836371,2037065,16189514 1580269,737775,632163,1625784,1625786,1625788,1625789,1625791,737776,1625790 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,BAD18650,AAH37963,AAH90863,AAA58391,CAA43470,P25098,Q59F73,Q6ZMS5,ABM82074,ABM85254 Hs.83636 GDB:128604 BARK1|BETA-ARK1|FLJ16718|GRK2 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. 1580863,632163 12808434,8427589,18274673,18075471,17621168,17106420,15728711,15498832,15087239,14702039,12477932,12130708,11762794,11668182,11517230,11060299,10754297,10591208,10085131,9826657,8662816,7695743,1869533,16189514 632163 157 NM_005160,AL022329,CH471095,AK055687,AK058103,AK123767,AK124922,AK292234,BC021221,BC029563,BC036797,BC063545,BX387339,CR617875,X69117 NP_005151,CAB45657,EAW59698,EAW59699,EAW59700,EAW59701,BAF84923,AAH36797,CAA48870,P35626,Q8N433 Hs.657494 GDB:131716 BARK2|GRK3 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. 1580863 16990800,11818576,8033103,17139257,17081983,16906146,16815440,16713569,16501559,15819879,15489334,14702039,12477932,11780052,10919708 11047 NM_007002,NM_175573,AL354836,CH471077,AK054985,AL558522,BC003059,BC010733,BC017245,BC093021,BR000321,CR591215,CR593414,CR594238,CR600340,CR601588,CR603214,CR604310,CR608688,CR616656,CR616946,CR618998,CR619277,CR619345,CR620862,CR623968,CR624663,D64154,CR749213,CR626787 NP_008933,NP_783163,CAC22308,EAW75375,AAH10733,AAH17245,FAA00246,BAA11023,Q16186,Q68E00,CAH18070,ABM84246,ABM87634 Hs.90107 GDB:376466 ARM1|GP110|MGC29536|Rpn13 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. 1598762,1598766,1598760,1580863 8366112,16973378,11256614,17188615,15571235,15489334,15471876,15461802,15342556,12833398,12590570,12477932,12368987,12016589,10958654,10888601,10591208,10090474,9545543,9373149,9266401,9195976,8404037,8125298,1302001 1598762,1598766,1598760 158 NM_001123378,AF106656,AL022238,CH471095,AF067853,AF067854,AK225042,AK291091,BC000253,NM_000026,BC018881,BP298407,CR456368,CR590245,CR594266,CR594779,CR599886,CR603727,CR609122,CR610943,CR613803,CR614973,CR616687,CR616911,CR619354,CR622395,CR623741,S60710,X65867 NP_000017,NP_001116850,AAC83935,CAI18983,EAW60375,EAW60376,EAW60377,AAC21560,AAC21561,BAF83780,AAH00253,CAG30254,AAC60603,CAA46696,CAA46697,P30566,Q71UA4,CAK54366,CAK54665,ABM84252,ABM87641 Hs.75527 GDB:119655 AMPS|ASASE|ASL protein-coding 1321450 ADSS adenylosuccinate synthase Adenylosuccinate synthetase catalyzes the first committed step in the conversion of IMP to AMP 1580863 1592113,15489334,12477932,8887278,4436310,2004783,648524 159 NM_001126,AL591594,AL645465,CH471148,X66503,AK025514,BC012356,BG700800,CR620791,CR626347 NP_001117,CAI14036,CAI14037,EAW77102,EAW77103,CAA47123,AAH12356,P30520,Q5SVJ2,Q5SY84 Hs.498313 GDB:119656 ADEH|MGC20404 protein-coding 1351020 ADSSL1 adenylosuccinate synthase like 1 15786719,15489334,14702039,12477932,11560929 122622 NM_152328,NM_199165,AL583722,CH471061,AK095921,AK096124,AK096720,AY037159,BC032039,BC047904,BX248286,CR617087,CR620273 NP_689541,NP_954634,EAW81876,BAC04649,AAK67646,AAH32039,AAH47904,CAD62614,Q8N142 Hs.592327 FLJ38602 protein-coding 1347850 ADTB1L1 adaptin, beta 1-like 1 10591208 23782 NG_002625,Z83839 GDB:10013437 dJ127L4.2 pseudo 1350660 ADTB1L2 adaptin, beta 1-like 2 10591208 23781 NG_002624,Z83839 GDB:10013438 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. 1580863 14702039,12690205,12477932,11438679,10510298,9624159,8920928 165 NM_001129,AC006454,CH236960,CH471128,AB209744,AF053944,AK090931,AK127541,BC038588,CR598691,D86479 NP_001120,EAL23768,EAW61119,BAD92981,AAC25585,BAC87026,AAH38588,BAA13094,Q8IUX7 Hs.439463 GDB:9835157 ACLP|FLJ33612 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,BAD18513,BAD18557,AAH15624,AAH22220,Q59FS5,Q6ZN18,Q6ZN62,Q96BG3,ABZ92093 Hs.126497 MGC17922 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. 1580863 11390640,8365415,9809752,16713569,15057824,15006356,14702039,12477932,12441302,12050133,12030375,11748221,11416139,10748198,10660609,10395201,9887105,8889549,17353931 166 NM_198969,NM_001130,NM_198970,AC005944,CH471139,U88832,AF072902,AF269289,AK094591,AK095154,BC113735,BC113737,BG696926,BG913049,BM550097,BM908356,CR591354,CR591743,CR594247,CR594475,CR594586,CR595893,CR596634,CR598322,CR599584,CR605502,CR606153,CR608829,CR609469,CR613028,CR616198,CR617074,CR622685,CR625320,N23852,U04241,X73357,X73358 NP_945320,NP_001121,NP_945321,AAC72103,EAW69341,EAW69342,EAW69343,EAW69344,EAW69345,EAW69346,EAW69347,AAD00654,AAC35517,AAG23172,AAI13736,AAI13738,AAA16223,CAA51768,Q08117,Q14CJ1,Q8WY48 Hs.515053 GDB:249182 AES-1|AES-2|ESP1|GRG|GRG5|TLE5 protein-coding 1353915 AEZ acrodermatitis enteropathica, zinc-deficiency type GDB:128360 1350331 AF8T AF8 temperature sensitivity complementing 169 GDB:118980 1348567 AFA ankyloblepharon filiforme adnatum 170 GDB:265277 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. Two alternative transcripts encoding the same protein have been identified. 17520695,16344560,15345747,15146197,14755689,12477932,12134071,11641786,11607843,10666339,9655255,9619827,7545969,16189514 60312 DA605903,DB450895,NM_198595,NM_021638,AC004169,AC097381,AC112254,AC141931,AC144451,CH471131,AB209676,AF188700,AK127962,AL706541,BC015900,BC032777,BI561136,CA448961,CN308844,D25248,CR606819 Q6ZRV0,Q8N556,NP_940997,NP_067651,EAW82360,BAD92913,AAG17055,BAC87209,AAH32777 Hs.529369 AFAP|AFAP-110 protein-coding 1606158 AFAP1L1 actin filament associated protein 1-like 1 17353931,14702039,12477932 134265 NM_152406,AC012613,AC131025,CH471062,AK074185,AK094067,AK095980,BC040723,BC125093,BC125094 NP_689619,EAW61787,BAB85011,BAC04277,BAC04664,AAH40723,AAI25094,AAI25095,Q8TED9 Hs.483793 FLJ36748|MGC149773 protein-coding 1321706 AFAP1L2 actin filament associated protein 1-like 2 17412687,15951569,15489334,15164054,14702039,12477932,11572484 84632 NM_001001936,NM_032550,AC005383,AL133384,AL355302,CH471066,AB067501,AF474151,AK123108,AK291712,BC016403,BC024314,BC033212,BC035713 NP_001001936,NP_115939,CAI40128,CAI40129,CAI14967,CAI14968,EAW49470,EAW49471,EAW49472,EAW49473,EAW49474,BAB67807,AAQ05765,BAF84401,AAH24314,AAH33212,Q2UZW3,Q8N4X5 Hs.501106 FLJ14564|KIAA1914|XB130 protein-coding 1605840 AFAR3 aflatoxin B1 aldehyde reductase 3 Aldo-keto reductases, such as AKR7A4, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM] 16710414,12879023,12477932 246181 AJ278012,BC035351,NM_201252,AL035413,CH471134 EAW94877,CAC79668,AAH35351,Q5U614,Q8NHP1,NP_957704,EAW94876 Hs.662342 AKR7A4 protein-coding 1352828 AFD1 acrofacial dysostosis 1, Nager type 171 GDB:265292 1317426 AFF1 AF4/FMR2 family, member 1 DISCONTINUED: The record for PBM1 has been withdrawn by HGNC. 1580863 7689231,17889710,17581865,17301807,17130830,16551973,16433901,16386788,16169901,15302935,15231748,15221006,14990976,14562113,12477932,11930009,11236948,10671636,9880680,9389682,9326653,9233580,8769569,8506309,8443374,8353274,1423625 4299 NM_005935,AC092658,AC093779,AC093827,AJ238093,CH471057,X83606,Z83689,AF024541,AF031404,AF177236,AF177237,AF177238,AF177239,AF492832,BC017432,BC114930,L13773,L25050 NP_005926,AAY40899,CAB52416,EAX05978,EAX05979,EAX05980,CAA58585,CAB69660,AAC51815,AAC14216,AAD56887,AAD56888,AAF09191,AAF09192,AAM33379,AAH17432,AAI14931,AAA58360,AAA36642,P51825,Q05D98,Q13718,Q14C88,Q6LA76,Q712L1,Q8NI09 Hs.480190 GDB:136792 AF-4|AF4|AF4-MLL|MGC134969|MLL/AF4|MLLT2|PBM1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, drosophila); translocated to, 2 protein-coding 1343236 AFF2 AF4/FMR2 family, member 2 1580863 8673086,17196195,15772651,12777533,12477932,11355014,11119302,10964075,10850542,10780779,10737800,10528856,10196698,9467002,9299237,9147647,8824884,8673085,7783162 2334 AB101728,AB101729,AB101730,AC002368,AC005731,AC006516,AC015552,AF012624,AF139979,CH471171,AB102644,AJ001550,BC132683,BI030785,L76569,U48436,X95463,NM_002025,AB101711,AB101712,AB101713,AB101714,AB101715,AB101716,AB101717,AB101718,AB101719,AB101720,AB101721,AB101722,AB101723,AB101724,AB101725,AB101726,AB101727 BAC80317,BAC80318,BAC80319,AAB71534,AAD45878,EAW61286,EAW61287,EAW61288,EAW61289,BAC81113,CAA04822,AAI32684,AAA99416,AAC82513,CAA64730,P51816,Q7Z2F7,Q7Z400,NP_002016,BAC80300,BAC80301,BAC80302,BAC80303,BAC80304,BAC80305,BAC80306,BAC80307,BAC80308,BAC80309,BAC80310,BAC80311,BAC80312,BAC80313,BAC80314,BAC80315,BAC80316 Hs.496911 GDB:141566 FMR2|FRAXE|MRX2|OX19 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. 1580863 8555498,15815621,15704140,15489334,15146197,14702039,12743608,12477932,12203795,8889548,8662235 3899 BI906088,BU740375,CN409428,U34360,NM_001025108,AC010736,AC018690,AC073118,AC092667,AC093373,AC114793,AC133108,CH471127,AB209634,AK055117,AK091320,AK092327,AK290468,BC021283,BC036895,NM_002285 AAA98763,P51826,Q8NAP7,NP_002276,NP_001020279,AAY14792,AAY24315,AAY24187,AAY24278,EAX01854,EAX01855,EAX01856,EAX01857,EAX01858,EAX01859,BAD92871,BAC03864,BAF83157,AAH36895 Hs.444414 GDB:5875371 LAF4|MLLT2-like protein-coding 1601873 AFF4 AF4/FMR2 family, member 4 10588740,17389929,17081983,16344560,16189514,15489334,14702039,12477932,12065898,11355014 27125 NM_014423,AC010240,CH471062,AA706988,AB209547,AF161355,AF173886,AF197927,AF213987,AK024831,AK055638,AK126818,BC025700,BC040454,BC063007,BC100287,BC137226,BX537585,DA934874 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 protein-coding 1345129 AFG3L1 AFG3 ATPase family gene 3-like 1 (S. cerevisiae) 1580863 9545647,17101804,16344560,14702039,12477932,11549317 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,BAC04933,BAC86848,CAH56313,AAH21245,AAH45753,O43931,Q49A37,Q658U5,Q6ZSU8,Q8N8B4,Q8WU50 Hs.534773 GDB:6045053 AFG3|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. 1580863 10395799,15489334,12477932 10939 NM_006796,AP001029,AP005264,CH471113,AK129504,BC024282,BC065016,CR597170,Y18314 NP_006787,EAX01551,EAX01552,AAH24282,AAH65016,CAB48398,Q8TA92,Q9Y4W6 Hs.528996 GDB:9958617 FLJ25993 protein-coding 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. 1580863 7517938,16740002,16335952,16199891,15952736,15489334,14760718,12477932,12463752,12063119,10400926,8755513,8648639,7875606,7035619,4041902,37276 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 GDB:376475 ALB2|ALBA|ALF|MGC125338|MGC125339 protein-coding 1606470 AFMID arylformamidase 14704851,12477932 125061 NM_001010982,AC087645,CH471099,BC020920,BC132824,BC142973,BX647783,BX648442,CR611538 NP_001010982,EAW89509,EAW89510,AAI32825,AAI42974,CAH56149,Q63HM1 Hs.558614 DKFZp686F03259|KF|MGC167063 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. 1300268,1580863,2292039,2292042,2292040,2292037,2292041,2292038 16882993,16869888,16627685,16203738,15993394,15906357,15849812,15489334,15305374,15280901,15265907,15040024,15028291,15001643,14714299,14622304,12835590,12804197,12615827,12503217,12499776,12477932,12361680,12176010,12167706,12006569,11861398,11788893,11764100,9891062,7684942,7532927,7524678,7519015,6193792,6192711,6192439,6187626,6085063,4138095,2580830,2474300,2445387,2436661,2414772,1709810,1703124,1379776,1371512,89900,80265,71198,70228,18316609,17852813,17535089,17465484,17433605,17275497,17237442,17197899,17188819,17175354,17175353,16892178 1300268,2292039,2292042,2292040,2292037,2292041,2292038 174 NM_001134,AC108157,CH471057,M10949,M10950,M16110,Z19532,BC027881,CR602918,CR603328,CR608054,CR608871,CR610573,CR616557,CR618771,CR621004,CR625428,CR625429,V01514 NP_001125,EAX05681,AAA51674,AAA51675,AAB58754,CAA79592,AAH27881,CAA24758,P02771,ABM81868,ABM85029 Hs.518808 GDB:119660 FETA|HPAFP protein-coding 1606558 AFTPH aftiphilin 15758025,16964243,15811338,15489334,15302935,14702039,14665628,12477932,9373149,8889548,8125298 54812 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 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. 1598773,1580863 1703489,2775174,2401370,16435229,15815621,15489334,15365992,14616088,12477932,11309371,10444340,9737998,9362483,9137882,8846222,8830180,8776587,8702913,8457202,8405810,8002961,7852406,7685790,6883788,2265705,2039475,2011603,1904874,1864600,1840528,1765378,1733831,1530592,1301945,16189514 1598773 175 NM_000027,AC027627,AC078881,CH471056,S83096,U21273,U21274,U21275,U21276,U21277,U21278,U21279,U21280,U21281,X61959,BC012392,CR541715,CR592694,CR599662,CR607548,M60808,M60809,M64073,M64075,M64076,X55762,X73071 NP_000018,AAY40915,EAX04712,EAX04713,EAX04714,EAX04715,AAD14424,AAB60655,CAA43958,AAH12392,CAG46516,AAA35901,AAA35902,AAA35903,AAA35904,AAA35905,CAA39288,CAA51529,P20933,Q13726,Q6LD43,Q9UCK7,Q9UCK8,ABM82279,ABM85460 Hs.207776 GDB:118981 AGU|ASRG|GA protein-coding 1345768 AGBL1 ATP/GTP binding protein-like 1 16344560,14702039,12477932 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 protein-coding 1602682 AGBL2 ATP/GTP binding protein-like 2 15489334,14702039,12738998,12477932,9373149,8125298 79841 NM_024783,AC021443,CH471064,AK027251,AK056687,AK223171,AK223176,BC028200,BC036234 EAW67891,NP_079059,EAW67889,EAW67890,BAB15707,BAD96891,BAD96896,AAH28200,AAH36234,Q5U5Z8 Hs.147377 FLJ23598 protein-coding 1604170 AGBL3 ATP/GTP binding protein-like 3 15489334,14702039,12853948,12477932 340351 XM_001726650,XM_001726535,XM_001723112,XM_001723784,AC083862,AC083870,AC090497,CH236950,CH471070,AK021841,AK023045,AL832281,BC030651 XP_001726702,XP_001726587,XP_001723164,XP_001723836,EAW83837,EAW83838,BAB14371,AAH30651,Q8NEM8 Hs.648616 FLJ12983|MGC32955 protein-coding 1606202 AGBL4 ATP/GTP binding protein-like 4 16710414,14702039,12477932 84871 NM_032785,AC097062,AC099788,AL355809,AL390023,AL391844,AL591602,AL645507,AL645730,CH471059,AF075049,AK027348,AK094826,BC035739,BC126383 NP_116174,CAI22166,CAI23365,CAI23366,CAI23367,CAI13520,CAI19137,CAI19138,CAI19139,CAI14371,CAI17069,CAI17070,CAI17071,EAX06847,BAB55053,AAI26384,A0AVJ2,Q5T2E5,Q5VU57,Q96K85 Hs.551844,Hs.679809 CCP6|FLJ14442 protein-coding 1605057 AGBL5 ATP/GTP binding protein-like 5 16344560,14702039,12477932,11256614 60509 AI990522,AK023398,AK025492,AL833844,BC018562,BC018584,BC062326,CB155754,CR592951,CR596269,CR599448,CR603688,CR625656,DA901318,BC007415,NM_021831,NM_001035507,AC013403,AC013472,CH471053 EAX00651,EAX00652,EAX00653,BAB14560,BAB15151,CAD38704,AAH07415,Q0JUU0,Q0JV25,Q8NDL9,NP_068603,NP_001030584,AAX93164,AAY14655,EAX00649,EAX00650 Hs.138207 FLJ21839 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. 1566451,1625335,1625342,1625346,1625338,1625343,1625348,1625333,1625341,1331525,1300365,1625339,1300270,1580863 15893388,15926115,15911356,15803111,15798956,15790669,15666359,15663911,15599399,15555779,15547674,15539404,15489334,15448098,15289604,15247020,15239215,15213278,15203887,15180953,15170618,15155381,15127201,15053925,15052533,15033494,15019601,15009731,14747204,14704946,14656967,14617629,14595542,14580673,14574404,14571699,14501001,12941744,12935895,12909002,12859967,12837757,12671312,12651613,12618340,12606536,12598893,12579287,12495433,16061848,1378843,10835680,10399917,18427074,18355449,18279705,18279703,18245812,18179750,18089847,18080716,18079965,18078623,18058469,18050248,18046662,18032526,17924846,17714874,17700210,17661837,17660747,17640970,17639302,17613396,17593216,17592553,17588956,17560613,17512509,17508727,17497647,17434489,17425804,17355942,17345061,17343760,17237617,17224333,17172923,17170388,17158877,17024691,17004092,16969649,16954682,16954185,16847147,16728681,16644647,16493495,16374460,16286548,16271939,16166741,16159602,16127291,16052547,16037279,15944249,15942086,15942078,17536039,15930093,12475402,12477932,12477623,12070776,12029499,11961018,11884895,11811511,11739380,11700025,11375354,11007787,10521570,9812979,9734395,9195959,8787669,8751438,7887450,7835890,7713518,11714725 1566451,1625335,1625342,1625346,1625338,1625343,1625348,1625333,1625341,1331525,1300365,1625339,1300270 177 AF536236,AF536237,AF537303,AJ133822,AY755619,AY755620,AY755621,AY755622,AY755623,AY755624,AY755625,AY755626,AY755627,AY755628,BC020669,DQ104251,DQ104252,DQ104253,NM_001136,NM_172197,AF001095,AF065211,AF065212,AF208289,AJ238896,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CS300822,D28769,U89336,AB036432,AB061668,AB061669,DQ104254,EU117141,M91211 AAQ10685,BAC65466,AAQ10686,AAQ10782,CAB43108,AAX07272,AAX07273,AAX07274,AAX07275,AAX07276,AAX07277,AAX07278,AAX07279,AAX07280,AAX07281,AAH20669,AAZ32412,AAZ32413,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,AAZ32415,ABV03807,AAA03574,O95795,Q101R2,Q101R3,Q101R5,Q15109,Q3L1R2,Q3L1R3,Q3L1R4,Q3L1R5,Q3L1R6,Q3L1R7,Q3L1R8,Q3L1S0,Q5JP24,Q5JP26,Q5SSZ2,Q5SSZ3,Q71BB6,Q71BG7,Q71UQ2,Q86SN1,Q9UQR5,ABM84501,ABM87820,AAZ32414 Hs.706739 GDB:306354 MGC22357|RAGE 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 14961121,15486042,15905966,17103452,16911369,16443853,16189514,15489334,14702039,12477932,10737800 737633 55109 BC032844,BC073864,BE077189,BI561566,BM998072,BX648120,CF994178,U84971,AC008581,AY500996,CH471084,AK001145,AK097255,AK289394,AW500409,AW958325,AY500994,BC002828,BC015478,BC029382,NM_018046 AAH32844,AAB60856,Q6PIK7,Q8N302,NP_060516,AAR97617,EAW95787,EAW95788,EAW95789,BAA91519,BAF82083,AAR97615,AAH02828,AAH15478,AAH29382 Hs.634849 FLJ10283|GPATC7|GPATCH7|HSU84971|HUS84971|VG5Q protein-coding 1352363 AGK acylglycerol kinase 18004883,17135245,16344560,16269826,15939762,15489334,15252046,14702039,12853948,12690205,12477932,9373149,8125298 55750 NM_018238,AC004918,AC073878,AC099547,CH236950,CH471070,AJ278150,AK001704,AK222769,BC009775,BC022777,CR603206,CR625177,DB032353 NP_060708,AAS07537,AAS07538,EAL24020,EAW83972,EAW83973,CAB93536,BAA91848,BAD96489,AAH09775,AAH22777,Q53H12,Q75KN0 Hs.699361 FLJ10842|MULK protein-coding 1314958 AGL amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) 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. 1566516,1331525,1598779,1598784,1601129,1642741 9691087,1374391,17915576,17908927,17047887,15886229,15489334,14718574,12477932,11924557,11378828,10982190,10925384,10571954,9490286,9412782,9332391,8990006,8954797,8755644,8702417,2295969,1505983,933239 1566516,1331525,1598779,1598784,1601129,1642741 178 NM_000642,NM_000028,NM_000643,NM_000644,NM_000646,NM_000645,AB035443,AC096949,CH471097,AB208867,AK130308,BC020705,BC057220,BC078663,C00487,M85168,U84007,U84008,U84009,U84010,U84011 NP_000633,NP_000019,NP_000634,NP_000635,NP_000637,NP_000636,BAA88405,EAW72980,EAW72981,EAW72982,EAW72983,EAW72984,EAW72985,EAW72986,EAW72987,BAD92104,AAH20705,AAH57220,AAH78663,AAB41040,AAB48466,AAB48467,AAB48468,AAB48469,AAB48470,P35573,Q05CV0,Q59H92,Q6PG50 Hs.904 GDB:132644 GDE protein-coding 1318183 AGMAT agmatine ureohydrolase (agmatinase) 1580863 16710414,16511187,15489334,15028567,14702039,14648699,12477932,11914032,11804860,9758718,9373149,8125298 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 GDB:11505605 FLJ23384 protein-coding 1346834 AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency) 179 GDB:119661 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. 1580863 9461603,17707131,16870193,16571775,15489334,14702039,14656967,14574404,12477932,11487472,9450025,9291118,9212163,9110174,8619474 10554 NM_032741,NM_006411,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89336,AF007145,AF218034,AK056346,AK058025,AK129818,BC003007,BC004310,BC006818,BC090849,CR595752,CR600479,CR602928,CR622553,CR623567,U56417,U75971,Y09565,BC002402 NP_116130,NP_006402,CAI17430,CAI18347,CAI41807,CAM26221,CAQ06593,EAX03599,EAX03600,EAX03601,EAX03602,EAX03603,EAX03604,EAX03605,EAX03606,CAQ10697,CAQ09622,AAB47493,AAC19153,AAG17276,AAH02402,AAH03007,AAH04310,AAH06818,AAH90849,AAB58775,AAB96378,CAA70758,Q5SSY3,Q5SSY4,Q5SSY5,Q71VH6,Q96J09,Q99943,Q9HBM8 Hs.409230 GDB:9957644 1-AGPAT1|G15|LPAAT-alpha|LPAATA|MGC4007|MGC5423 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. 1580863,1598407,1598785 15841084,15629135,15489334,15181077,15146197,15028826,14602785,12477932,11967537,10487716,9291118,9242711,9461603,9212163,18155601,16870193,16435205 1598785 10555 NM_001012727,NM_006412,AL590226,CH471090,AF000237,AF011374,BC000026,BC004529,BC007269,BC019292,BF347518,CN407343,CR590402,CR592360,CR590462,CR597301,CR598618,CR601358,CR602303,CR603192,CR605868,CR611946,CR615685,CR623942,CR624126,CR625982,U56418 NP_001012745,NP_006403,CAH71722,CAH71723,EAW88249,EAW88250,EAW88251,EAW88252,AAC51649,AAB64299,AAH00026,AAH04529,AAH07269,AAH19292,AAB58776,O15120,Q5VUD3,Q5VUD4,Q8WUW2,Q96IS9,ABM83072,ABM86268 Hs.320151 GDB:11499737 1-AGPAT2|BSCL|BSCL1|LPAAB|LPAAT-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. 1580863 15367102,16780588,16620771,15489334,14702039,12975309,12477932,12107412,11487472 56894 NM_020132,NM_001037553,AB001523,AP001053,AP001054,CH471079,AB040138,AF156774,AF156775,AK026135,AK074300,AK125804,AL109795,AL355720,AL355721,AL832919,AY358704,BC004219,BC004413,BC011971,BC013167,BC026047,BC040603,BC063552,BM083518,BM476336,CD672915 NP_064517,NP_001032642,EAX09461,EAX09462,EAX09463,EAX09464,EAX09465,BAB18943,AAF80336,AAF80337,BAB85042,BAC86299,CAD38635,AAQ89067,AAH04219,AAH04413,AAH11971,AAH40603,AAH63552,Q8TEB0,Q9BT14,Q9NRZ7 Hs.248785 GDB:10796269 LPAAT-GAMMA1|MGC4604 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. 1580863 12477932,11487472,9828130,15367102,15489334,14574404,12975309 56895 CR590247,CR609642,CR612654,CR615061,CR615644,CR621965,CR623504,CR627395,AL109942,CH471051,AF156776,AJ227890,AJ227891,AJ420473,AK074208,AL122123,AL832128,AY358506,BC013410,BC020209,BQ072907,NM_020133 CAH10489,Q5TEE9,Q6AI25,Q6PJN9,Q9NRZ5,NP_064518,CAI21475,CAI21478,CAI21480,EAW47577,EAW47578,EAW47579,EAW47580,EAW47581,EAW47582,EAW47583,AAF80338,AAQ88870,AAH13410,AAH20209 Hs.353175 1-AGPAT4|LPAAT-delta|RP3-473J16.2|dJ473J16.2 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. 1580863 15367102,11487472,11256614,16620771,16381901,16341674,15489336,15489334,14702039,12477932,11230166,11076863 55326 NM_018361,AF287957,CH471153,CQ834440,CQ834528,AF375789,AK002072,AK021722,AL136587,AL514578,BC023550,BC068519,BC080537,BM837881,CA414711,CR608096,CR611576,CR621552,CR624453 NP_060831,EAW80476,EAW80477,EAW80478,CAH05435,CAH05479,AAK54809,BAA92069,CAB66522,AAH23550,AAH68519,AAH80537,Q0JU75,Q6NUM7,Q9NUQ2,CAL37777,CAL37936,ABM87746,ABM84362 Hs.624002 1-AGPAT5|LPAAT-e|LPAAT-epsilon protein-coding 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] 16713569,16625827,15489334,12975309,12938015,12477932 137964 AL834255,AY358670,AY513610,BC051377,BC061884,CR617473,NM_178819,AC009630,CH471080,AF317516,AF406612 AAP21893,CAD38930,AAQ89033,AAS82774,AAH51377,AAH61884,Q2TU73,Q86UL3,Q9HAM9,NP_848934,EAW63253,EAW63254,EAW63255,AAG33063 Hs.355753 DKFZp586M1819|LPAAT-zeta|LPAATZ|TSARG7 protein-coding 1604192 AGPAT7 1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta) Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM] 16243729,15489334,14702039,12477932,9110174,8619474,7566098 254531 NM_153613,AC025678,CH471125,AF007155,AF529233,AF542964,AK001119,AK290273,AL832237,AY734233,BC024892,BC028209,BC048430,BC092463,CR617279,T29943 NP_705841,EAW92306,EAW92307,EAW92308,AAC19156,AAP97722,AAN33178,BAF82962,AAU34184,AAH24892,AAH92463,Q643R3 Hs.352614 AYTL3|FLJ10257|LPAAT-eta 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] 17170135,17002884,15221005,14702039,12975309,12477932,9373149,8125298 84803 NM_032717,AC021192,AC096768,CH471057,AB075872,AK055749,AK223543,AY358100,BC006236,BC073136,BC090956,DQ324782,DQ345298 NP_116106,EAX05944,EAX05945,EAX05946,BAD38654,BAB71002,BAD97263,AAQ88467,AAH73136,AAH90956,ABC55674,ABC70186,Q53EU6 Hs.99196 AGPAT8|GPAT3|LPAAT-theta|MAG1|MGC11324 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. 1300366,1598794,1580863 9553082,9187299,11152660,10683770,10553003,10415121,10384985,10215861,9373149,9266692,8125298,7807941,4031664,3646870,2464339,1495418 1300366,1598794 8540 NM_003659,AC016762,AC019080,AC073834,CH471058,AL359559,AY544121,BC141820,BQ007087,CR591757,Y09443 NP_003650,AAY24300,AAY14986,AAX93112,EAX11057,EAX11058,AAT11152,AAI41821,CAA70591,O00116,Q53S12,Q53SG6,Q53SN7 Hs.591631 GDB:9032957 ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY protein-coding 1312142 AGR2 anterior gradient homolog 2 (Xenopus laevis) 15489334,15340161,12975309,12853948,12690205,12592373,17694278,17457305,16713569,16551856,16222343,16189514,16169070,15935701,15834940,12477932,10965104,9790916,9373149,8125298 10551 NM_006408,AC073333,CH236948,CH471073,DQ070893,AF007791,AF038451,AF038452,AF087879,AF088867,AF115926,AK223067,AY359009,BC015503,BT007048,CR610899 NP_006399,AAP22354,EAL24283,EAW93682,EAW93683,AAY84773,AAY84774,AAY84775,AAY84776,AAC77358,AAC82614,AAP97179,AAF22484,AAL54870,BAD96787,AAQ89368,AAH15503,AAP35697,O95994,Q4JM46,Q4JM47,Q53G64,ABM81571,ABM84751 Hs.530009 GDB:9957635 AG2|GOB-4|HAG-2|XAG-2 anterior gradient 2 homolog (xenopus laevis) protein-coding 1604981 AGR3 anterior gradient homolog 3 (Xenopus laevis) 15935701,15489334,15340161,12975309,12690205,12592373,12477932,12477722,8889548 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|hAG-3 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] 9652404,9405491,15340048,9151673,1326608,18025246,17640714,16713569,16487930,16037493,15694127,15691710,15146197,14702039,12477932,12270958,12073527,12070669,8617505,1851019,1659950 375790 AL645608,CH471183,AB191264,AF016903,AK021586,AK125197,AK128761,AW204172,BC004220,BC007649,BC034009,BC063620,NM_198576,BC084578,BE383214,BF569502,BF740118,BQ892267,CN314678,S44195,U84406 NP_940978,CAI15575,CAI15576,EAW56293,BAD52440,AAC39776,BAC86079,BAC87604,AAH04220,AAH07649,AAH34009,AAH63620,AAH84578,AAB23327,AAB52917,O00468,Q15952,Q5XG79,Q6ZQS9,Q6ZUY7 Hs.273330 GDB:131405 FLJ45064 protein-coding 731742 AGRN agrin 1300271 1300271 180,284602 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. 1625232,1331525,1300272,1625233,1580863,1357925 9311920,10318826,9751529,17197106,17180153,17041250,16904835,16820227,16568137,16320160,16314751,16280444,16130030,15978665,15597110,15546902,15489334,15121772,15054840,12815165,12477932,12213871,12153462,12056887,11747427,11602360,11554767,11487744,11344185,11326303,11196643,10371151,10366820,9893984,9892020,9724530,9354787,9119224 1625232,1331525,1300272,1625233,1357925 181 NM_001138,NM_007316,AC009061,AF281309,AF314194,CH471092,DQ374394,BC110443,U88063,U89485 NP_001129,NP_015531,AAK96256,AAL09457,EAW83137,ABC88473,AAI10444,AAB52240,AAB68621,O00253 Hs.104633 GDB:9848638 AGRT|ART|ASIP2|MGC118963 2289478 SLEP18_H protein-coding 1348196 AGS1 Aicardi-Goutieres syndrome 1 10827106 27003 GDB:10795417 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. 1581742,1582435,1581938,1566491,1566492,1582118,1581847,1300394,1582152,1582124,1582105,1582434,1331525,1300393,1300273,1601142,1601141,1601132,1580863,1566511,1601130,1601134,1601135,1601136,1601138,1601139,1601140,1601143,1566452 3397061,8477848,8513325,14718574,6089875,18491423,18475146,18454324,18446580,18446309,18413308,18413222,18413162,18409009,18364271,18328310,18325076,18300856,18292388,18279468,18277167,18260994,18250562,18248681,18239384,18239157,18227406,18212269,18205097,18175066,18172037,18069999,17998241,17991883,17988266,17984617,17977523,17975262,17964282,17952138,17921816,17921431,17914507,17903694,17903690,17851694,17846284,17823594,17785212,17765139,17702963,17689084,17666408,17653210,17624368,17608790,17595324,17586619,17579251,17569879,17569300,17563539,17546276,17541127,17524880,17522061,17520398,17499413,18164957,17492314,17475670,11737220,11731937,11725160,11720807,11714857,11711524,11709400,11707686,11707217,11689223,11688760,11677365,11677359,11675943,11668351,11593098,11577832,11575217,11544438,11531970,11507973,11484170,11463770,11447495,11431175,11422818,11422735,11393670,11372768,11359462,11355019,11354780,11345362,11341749,11330874,11330506,11325075,11317203,11300226,11288810,11278902,11244011,11234373,11230286,11213892,11208365,11200871,11191642,11181802,11747312,16344560,16338465,16335952,16314886,16286570,16280278,16276364,16275260,16274774,16266458,16256216,16231503,16228848,16210856,16199891,16189514,16133060,16115039,16109907,16108768,16105049,16088850,16087781,16061119,16059745,16047641,16045904,16019571,12205735,12194787,12187393,12181364,12181363,12173461,12169209,12164881,12145290,12130713,12118911,12095411,12082592,12081721,12051013,12040348,12037699,12031704,12015946,12006677,11997278,11963567,11938025,11926202,11924723,11923700,11923478,11918988,11910301,11910300,11882570,11865575,11862023,11860821,11849656,11815627,11803527,11776100,11756575,11754397,11751698,17448297,17429448,17416596,17404186,17389608,17383306,17379330,17378368,17342175,17334527,17327458,17299437,17298481,17291601,17289052,17261659,17257983,17223428,17220293,17202846,17196163,17190732,17161775,17159089,17145981,17143591,17138938,17124396,17118372,17116328,17112651,17107992,17083073,17083063,17069434,17024648,17003099,16981142,16971959,16963053,16954165,16949687,16940224,16937603,16915040,16911698,16893516,16876684,16844946,16823505,16790149,16755155,16741369,16739866,16007303,16006956,15941661,15934435,15930094,15922319,15915003,15914769,15914614,15905345,15879922,15869758,15860756,15824464,15811183,15798183,15789057,15754274,15743363,15718497,15718424,15676177,15673342,15668245,15662219,15659127,15649942,15642127,15628301,15624175,15621215,15614026,15599691,15575510,15563875,15505642,15504143,15498133,15489334,15480793,15448113,15388495,15387996,15386947,15385810,15364762,15353577,15343353,15326089,15317677,15294367,15278435,15201545,15201544,15192838,15153745,15153556,15149328,15131005,15130920,15123355,15120696,15112973,15112434,15108186,15097234,15082899,15079791,15077204,15076187,15075192,15067738,15067378,15062885,15055256,15045574,15044674,15042429,15031629,15023884,15017542,15013333,15013322,15013293,14997233,14973087,14970360,14961043,14767903,14767013,14765837,14749533,14700505,14688807,14672953,14669517,14660489,14648325,14644777,14643574,14643573,14642613,14638622,14625185,14610337,14597849,14569094,14565954,14530292,14523024,14521795,14519430,14508191,14508190,14502296,14500990,12964504,12950120,12939534,12938141,12932862,12911556,12911327,12898858,12895663,12888892,12874613,12865608,12854169,12832734,12830507,12829792,12819040,12811821,12805070,12767551,12743009,12728975,12716844,12695419,12675870,12670743,12669427,12663475,12663441,12661912,12627873,12624946,12611423,12597535,12579405,12579398,12576245,12575194,12569265,12559679,12556231,12548125,12544508,12536339,12513040,12511525,12511523,12482638,12479284,12477932,12476891,12476421,12469628,12454231,12450315,12449516,12446468,12446192,12431442,12426159,12425365,12417054,12394950,12352892,12270765,12234952,16736244,16724011,16713443,16685579,16685205,16681991,16672053,16671337,16636191,16635753,16618834,16611471,16609364,16603315,16597412,16572049,16565729,16544732,16525944,16521052,16520412,16514903,16492203,16487207,16396964,16392768,16387306,16386515,16384824,16369102,16352906,11157174,11142763,11136175,11114694,11106322,11096141,11095476,11082147,11053482,11027844,11024214,10969042,10899625,10619573,10419812,9814470,9757569,9694881,9492317,9373149,9120024,8959747,8621667,8548433,8230088,8185599,8125298,7961807,7888785,7744780,7607642,7539791,7259779,4300938,3934016,3579322,3034901,2924688,2885106,2286380,1756856,1692023,1394429,1132082,28321,12173 1581742,1582435,1581938,1566491,1566492,1582118,1581847,1300394,1582152,1582124,1582105,1582434,1331525,1300393,1300273,1601142,1601141,1601132,1566511,1601130,1601134,1601135,1601136,1601138,1601139,1601140,1601143,1566452 183 AL158214,AL512328,AY436323,CH471098,EU326304,M24689,S78529,S78530,X15324,AB209769,AK222798,AK222815,AK307978,AK312291,AU128714,AW128887,BC011519,BF338744,BT006851,NM_000029,CR591984,CR592799,CR595628,CR601683,CR606672,CR607896,CR607898,CR615493,CR615499,CR618295,CR618811,CR618903,CR619790,CR625369,CR625415,DC412932,K02215,M69110,T97863,W01494 NP_000020,AAR03501,EAW69918,EAW69919,ACA05910,AAA51679,AAD14287,AAD14288,CAA33385,BAD93006,BAD96518,BAD96535,BAG35218,AAH11519,AAP35497,AAA51731,AAA52282,P01019,Q53GY3,Q53YY1,Q59EP2,Q5T0X3,Q86U78,ABM81942,ABM85122 Hs.19383 GDB:118750 ANHU|FLJ92595|FLJ97926|SERPINA8 angiotensinogen (serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 8) protein-coding 1346339 AGTBP angiotensin binding protein 184 GDB:682522 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] 11083920,10470851,16713569,15302935,14702039,12477932,11884758 23287 NM_015239,AL157882,AL451131,CH471089,AB028958,AJ420433,AJ437018,AK001544,AK022562,AK023280,AK024698,AL833359,BC060815,BX648366,CA449535,DC334722 NP_056054,CAH71212,CAH71213,CAH71214,CAH71215,EAW62694,EAW62695,EAW62696,EAW62697,EAW62698,EAW62699,BAA82987,CAD24587,BAA91749,BAB14100,BAB14505,CAH56222,AAH60815,CAH56158,Q8TE37,Q9UPW5 Hs.494321 GDB:9955453 DKFZp686M20191|KIAA1035|NNA1 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 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 four 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. 1566498,1566499,1580863,737778,629553,1598885,1582124,1331525,1581825,1598878,1581847,1582152,737777,1601149,1601146,1601148,1601150,1601152,1601151,737809,737810 17166941,17165166,17160213,17146658,17143591,17118791,17118790,17118372,17097490,17051401,17024648,17008309,16998258,16954165,16923768,16911325,16893516,16876684,16831865,16823505,16805920,16790149,16787961,16775386,16741935,16741369,16736244,16691016,16685579,16684954,16675453,16672053,16651460,16636899,16615274,16611642,16609364,16603315,16565729,16550310,16530863,16525944,16525943,16522324,8135787,1378723,1567413,18491423,18488444,18464745,18446309,18432064,18413308,18413222,18413189,18364271,18347611,18328310,18296263,18261537,18260840,18239384,18239157,18231736,18205094,18202720,18172057,18158351,18091746,18069999,18026817,18006496,17993594,17992634,17988266,17499413,17487826,17486447,17446655,17446269,17433630,17429042,17399955,17378368,17375465,17336987,17334527,17327458,17326392,17299793,17298481,17293603,17285438,17274465,17270098,17261659,17256744,17229913,17227479,17223428,17220293,17211857,17211247,17207964,17190732,17173513,17519002,17984617,17921816,17921431,17921131,17914507,17903694,17851694,17785770,17728799,17726226,17725712,17719203,17710578,17703434,17702963,17668390,17617024,17601799,17595257,17588946,17586781,17586411,17569300,17557241,17546276,17541127,17524880,17522061,17520398,16521052,16519598,16504375,16498788,16492203,16468060,16434990,16398146,16396964,16395664,16384824,16369102,16364240,16339777,16314886,16294326,16276415,16274774,16271939,16231503,16189286,16188060,16152821,16112405,16109907,16109807,16109085,16108768,16105049,16088850,16076618,16061119,16047641,16012192,15949885,15946912,15934435,15930094,15923814,15914614,15905345,15890659,15863668,15848528,15824464,15797649,15785027,15775779,15743363,15718497,15718424,15694792,15683714,15676177,15673342,15662219,15635042,15628301,15612584,15590451,15580058,15563875,15545843,15545271,15543360,15505642,15504143,15498833,15498791,15498133,15496309,15492474,15480098,15480097,15458433,15454732,15452107,15385810,15376229,15364762,15355986,15353577,15332573,16006956,15326089,15295089,15269283,15238568,15221785,15212666,15196067,15193960,15193870,15153745,15130920,15126556,15108186,15097234,15080371,15062885,15045574,15042429,15031629,15017542,15013333,15013322,15013293,14997233,14987254,14767013,14765837,14764974,14749533,14730619,14654250,14627489,14610337,14597852,14569094,14530292,14529856,14521778,14508191,14502296,12960024,12950120,12932862,12925562,12904590,12898858,12897464,12891302,12865608,12860335,12842881,12832734,12778448,12747597,12728975,12716844,12695419,12694874,12694873,12660887,12631360,12627873,12627871,12624609,12597535,12593997,12591176,12579405,12579398,12556231,12544508,12544439,12534336,12522467,12522132,12514663,12513040,12511523,12482634,12477932,12476891,12473660,12460700,12454231,12450401,12446598,12446192,12436935,12425365,12394950,12390711,12358135,12187084,12133518,12133421,12127057,12117739,12095411,12048678,12045255,12034692,12031955,12006574,11999641,11967817,11938025,11926202,11924723,11923700,11913624,11910301,11910300,11909563,11903322,11882570,11881039,11865575,11852019,11799082,11798574,11793845,11793101,11776100,11775887,11774217,11733189,11711524,11709801,11709400,11707686,11707217,11696688,11696658,11692158,11689223,11688760,11687736,11682489,11593098,11579203,11577832,11575217,11531970,11484170,11444146,11359462,11355019,11354780,11341749,11336183,11330506,11324803,11317203,11289708,11288810,11279203,11250978,11246471,11226259,11213892,11208365,11158334,11137090,11136175,11122322,11110972,11106322,11085286,11082147,11081769,11079515,10993080,10972591,10510297,9766385,9606715,9516477,9468203,9074770,8753867,8662816,8185574,8166699,8021009,7980575,7792812,7746328,7491117,1683828,1550596,1543512,1508224,14657020,16189514 1566498,1566499,737778,629553,1598885,1582124,1331525,1581825,1598878,1581847,1582152,737777,1601149,1601146,1601148,1601150,1601152,1601151,737809,737810 185 NM_031850,NM_000685,NM_004835,NM_009585,NM_032049,AC024897,AF245699,AY221090,AY436325,CH471052,M91464,S70433,U07144,Z11162,AI240900,AK291541,BC022447,BC068494,CR593142,CR600504,CR601313,D13814,M87290,M93394,S77410,X65699 Q8TBK4,ABM83314,ABM86527,Q6NUP5,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 Hs.477887,Hs.709185 GDB:132359 AG2S|AGTR1A|AGTR1B|AT1|AT1B|AT1R|AT2R1|AT2R1A|AT2R1B|HAT1R 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. 1566502,1581855,1580863,1581825,1582118,1582124,1300276,1300274,1300275 8502225,10406457,7477267,7477266,7945336,18488444,18437528,18328310,18296263,18254975,18205097,18049304,17944121,17707359,17653210,17630322,17620959,17548686,17522061,17515833,17499413,17433630,17336987,17270098,17261659,17160213,16954165,16944335,16609364,16598200,16550310,16522324,16395664,16344560,16289034,16283672,16133060,16112405,16109806,16080803,15914614,15772651,15710780,15638358,15489334,15470205,15458433,15385810,15221785,15123706,15123577,15117835,15013333,15013322,15013293,14987254,14764974,14657020,14627490,14598163,12925562,12924622,12911547,12881481,12800945,12746399,12660887,12579398,12544508,12531525,12522467,12477932,12453540,12187255,12133421,12089445,11880254,11819093,11709400,11544438,11459796,11446495,11324803,11200871,11153734,11081769,11055978,11053482,10710290,9884335,9099917,8957548,8663053,8552595,8185599,7999093,7790004,7733925,7719706,1550596 1566502,1581855,1581825,1582118,1582124,1300276,1300274,1300275 186 AAB34100 NM_000686,AL732602,AY322542,AY324607,AY359674,AY359675,AY536522,CH471234,L34579,U10273,U15592,U20860,U27478,X87722,AI911273,BC095504,CR541969,CR738498,DA538369,U16957,X87723 NP_000677,CAI40984,AAP84355,AAP72969,AAQ62073,AAS45437,EAW51502,AAA98990,AAA61794,AAA50762,AAA85851,AAA84900,AAH95504,CAG46767,AAA67753,CAA61022,AAB34100,P50052,Q6UVH2 Hs.405348 GDB:134188 AT2|ATGR2|MRX88 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. 16710414,15757644,15668245,15489334,14985364,14559250,12960423,12477932,12107413,11733189,11162453,10358057,16189514 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 GDB:11509984 ATRAP|MGC29646 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. 1302510,1300367,1300048,1580863 2363689,15911627,12899834,15802217,3709805,1703535,7813517,18468259,18289107,17495019,17460142,17110443,16971151,16912707,15961951,15849466,15365967,15327387,15253729,12777626,12477932,12169688,11562405,11085934,10960483,10862087,10453743,10394939,9192270,8906307,8507692,8101040,8034295,2253628,2045108,2039493,1961759,1349575,1301173 1302510,1300367 189 AC104809,CH471063,M61763,X74208,X74209,AA857309,AB292648,AF191687,AF348451,AK292754,BC132819,CB156891,CR598889,CR603072,CR614071,CR620771,D13368,X53414,X56092,NM_000030 NP_000021,AAY24168,EAW71221,EAW71222,AAA51680,BAF46862,AAF05604,AAK30157,BAF85443,AAI32820,BAA02632,CAA37493,CAA39572,P21549,Q53QU6,Q9BXA1,Q9UJX1 Hs.144567 GDB:127113 AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6 protein-coding 1352542 AGXT2 alanine-glyoxylate aminotransferase 2 The protein encoded by this gene belongs to class III of the pyridoxal-phosphate-dependent mitochondrial aminotransferases. 1580863 15240345,14702039,9373149,8125298,7592550 64902 NM_031900,AC010368,CH471119,AB193309,AJ292204,AK055732,AK055757,AK223128,AK223144,AK223375 NP_114106,EAW55912,BAD66662,CAC24841,BAD96848,BAD97095,Q9BYV1,AAI56125,AAI56920 Hs.34494 GDB:11499739 AGT2 protein-coding 1350227 AGXT2L1 alanine-glyoxylate aminotransferase 2-like 1 632008 14702039,12477932,7592550 632008 64850 NM_031279,AC097473,CH471057,AJ298293,AK091888,BC022526 NP_112569,AAY40946,EAX06235,EAX06236,EAX06237,CAC22253,BAC03766,AAH22526,Q8TBG4 Hs.106576 GDB:11505607 protein-coding 1602671 AGXT2L2 alanine-glyoxylate aminotransferase 2-like 2 16189514,14702039,12477932 85007 NM_153373,AC136601,AC136632,CH471165,AF318375,AK023470,AK024076,AK093737,AK292061,BC008009,BC028002,BC037238,BC037567,BC039012,BC067745,BC110335,CR611632,CR619518 NP_699204,EAW53835,EAW53836,EAW53837,EAW53838,EAW53839,EAW53840,EAW53841,AAL55882,BAF84750,AAH08009,AAH37567,AAI10336,Q8IUZ5 Hs.248746 MGC117348|MGC15875|MGC45484 protein-coding 1603679 AHCTF1 AT hook containing transcription factor 1 17098863,17081983,16964243,16565220,15489334,14702039,12477932,11952839 25909 NM_015446,AC113174,CH471148,AB059277,AF173978,AK091364,AK091510,AK095398,AK122844,AL080144,AL832213,AL833491,AY157619,BC012307,BC030564,BC047361 NP_056261,EAW77165,EAW77166,EAW77167,EAW77168,BAB78516,AAQ13621,CAB45737,AAN65622,AAH12307,Q8WYP5 Hs.300887 DKFZp434N093|ELYS|MST108|MSTP108|TMBS62 protein-coding 1605826 AHCTF1P AT hook containing transcription factor 1 pseudogene 14702039 285116 NG_002622,AC009487,AK057394 BAB71468,Q96M44 Hs.470435 ELYS-like pseudo 731745 AHCY S-adenosylhomocysteine hydrolase 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. 1598896,1598897,1300368,1598898,730275,1601153,1580863,1300048 2596825,17353931,18427977,18211827,17892301,17688412,17447732,17172447,17164794,17097637,17081065,15489334,15241484,15024124,14702039,12590576,12477932,12369977,12069606,12063172,11780052,10933798,9586999,7786017,7608178,7079734,6586634,6580258,2574561,715439,309884,16189514 1598896,1598897,1300368,1598898,730275,1601153 191 NM_000687,AL356299,CH471077,AK097610,AK290422,BC010018,BC011606,BC114924,BT006697,CR594678,CR603449,CR603916,CR609798,CR610700,CR613383,CR614546,CR616968,CR619776,M61831,M61832 NP_000678,CAC09528,EAW76279,EAW76280,EAW76281,BAF83111,AAH10018,AAH11606,AAI14925,AAP35343,AAA51681,AAA51682,P23526,Q1RMG2,Q9BZ13,Q9H4U6,ABM92186,ABM82627,ABM84656,ABM86323 Hs.388004 GDB:118983 SAHH protein-coding 1320280 AHCYL1 S-adenosylhomocysteine hydrolase-like 1 1580863 16769890,16754674,16710414,15951569,15489334,12878157,12525476,12477932,11904675,10070969,9110174,8619474,7782076 10768 BC010681,BC016942,BC065254,BC095476,BC110896,BC111563,BK005417,BK005418,BQ774807,CF456195,CR591659,CR592324,CR596695,CR606586,U82761,AL772411,CH471122,AA865152,AF035319,AF090905,AF315687,AK131563,AL049954,BC003631,BC007576,NM_006621 AAH10681,AAH16942,AAH65254,AAH95476,AAI10897,AAI11564,DAA05762,DAA05763,AAC01960,O43210,O43865,AAH07576,NP_006612,EAW56422,EAW56423,EAW56424,EAW56425,EAW56426,EAW56427,AAB88189,AAF24028,AAL26869,BAD18696,CAB43223,AAH03631,Q2NKW8,Q6ZMM9,Q9BTL0,Q9UI76,AAI40415,AAI46493,ABM81947,ABM85127 Hs.705418 GDB:9958257 DCAL|IRBIT|PRO0233|XPVKONA protein-coding 1601771 AHCYL2 S-adenosylhomocysteine hydrolase-like 2 16865262,15489334,12477932,10048485 23382 NM_015328,AC009244,AC011005,AC083866,AC093149,CH236950,CH471070,AB020635,AK025372,AK130743,BC008349,BC024325,CR595025 NP_056143,EAW83716,EAW83717,BAA74851,BAC85419,AAH08349,AAH24325,Q6ZNS6,Q96HN2 Hs.600789 FLJ21719|KIAA0828 protein-coding 1603658 AHDC1 AT hook, DNA binding motif, containing 1 16713569,15146197,12477932,9110174,8619474 27245 NM_001029882,AL031729,CH471059,AK125431,BC002677,BC064935,BC014394,BM989685,CN371147,U79259 NP_001025053,CAI19618,CAI19619,EAX07751,EAX07752,BAC86163,AAH02677,AAH14394,AAB50205,Q5TGY3,AAI52908 Hs.469280 CL23945|DJ159A19.3|RP1-159A19.1 protein-coding 1349401 AHDS Allan-Herndon-Dudley syndrome 193 GDB:125899 1348620 AHI1 Abelson helper integration site 1 1598905 18227995,17668382,17473831,17409309,16773125,16453322,16381901,16240161,16155189,15489336,15489334,15467982,15322546,15169551,15060101,14751929,14702039,14574404,12477932,12186888,11230166,11076863,9373149,8125298 1598905 54806 AK000076,AK024085,AK092262,AK225210,AL136797,AY133243,BC015019,BC029417,BC039559,BC050607,BC065712,BC094800,DQ090887,AL023693,AL049552,AL133544,CH471051,AJ459824,AJ459825,AJ606362,NM_017651 CAE54481,BAA90929,BAB14820,BAC03840,CAB66731,AAM94177,AAH29417,AAH65712,AAH94800,AAY99645,Q0JSZ4,Q4FD35,Q5TFT0,Q5TFT1,Q8N157,Q8NER0,Q9H803,Q9NQN3,Q9NXT1,CAL38370,NP_060121,CAI20201,CAI20385,CAI20387,CAB96731,CAI22521,CAI22523,EAW47962,EAW47963,EAW47964,EAW47965,EAW47966,CAD30871,CAD30872 Hs.386684 AHI-1|DKFZp686J1653|FLJ14023|FLJ20069|JBTS3|JOUBERIN|ORF1|dJ71N10.1 abelson helper integration site protein-coding 1345625 AHNAK AHNAK nucleoprotein 1580863 1608957,16984913,16582619,16319140,15177040,15033986,15001564,14702039,12477932,12153988,11746675,11535620,11312263,10737800,7987395,7789175,14625392,15607035 79026 NM_024060,NM_001620,AP001363,AP003064,CH471076,AK091153,AK095346,AK128868,BC000926,BC012477,BC017483,BC128460,BF094607,BF761997,BQ448690,CB129722,M80899,M80902,X74818 NP_076965,NP_001611,EAW74019,BAC03596,BAC87652,AAH00926,AAH12477,AAI28461,AAA69898,AAA69899,CAA52817,Q09666,Q13727,Q6ZQN2,Q8N274,Q96EC4,Q9BVU3 Hs.502756 GDB:386063 AHNAKRS|MGC5395 ahnak nucleoprotein (desmoyokin) protein-coding 1320178 AHNAK2 AHNAK nucleoprotein 2 15007166,14702039,12477932 113146 NM_138420,XM_001133401,AL512802,AB095939,AK094143,AK095704,AK126472,AL834367,BC004283,BC011859,BC033372,BC049216,BC090889,BX537923,BX538040,BX538106,BX538133 NP_612429,XP_001133401,BAC23115,CAD39030,AAH11859,AAH33372,AAH49216,AAH90889,CAD97904,CAD97981,CAD98019,CAD98034,Q8IVF2 Hs.441783,Hs.708330 C14orf78|KIAA2019 chromosome 14 open reading frame 78 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. 1580863,1300278,1300277,634668 17140257,17053541,16985033,16985026,16952353,16922649,16891617,16762319,16675542,16619036,16538170,16480812,16403814,16337337,16153594,16109480,16103451,16091746,16084889,15964790,15917307,15897893,15863442,15837795,15774926,15758562,15728486,15641800,15572374,15499202,15489334,15474075,15342792,10395741,16257957,11782478,12213388,7961644,18303622,18302886,18037991,17963696,17900530,17823304,17823287,17642299,17596880,17559847,17511620,17502624,17498780,17490615,17429315,17392787,17311112,17244640,17223712,17200336,17174437,15190133,10620335,10497241,10471301,10428779,10048154,9972449,9837941,9787404,9759704,9712901,9446600,9170146,9111057,9083006,9079689,8794892,8393992,8384309,8246913,8125016,8074712,7961671,7883760,7716743,7628454,7566098,7550366,12139968,12065584,12024042,11866883,11835227,11805098,11768231,11756572,11742002,11698344,11689007,11505220,11425848,11408954,11393538,11259615,11259606,11207035,11114727,11032419,11013261,10999956,10986286,10903152,10739168,15123621,15069065,15026081,14985336,14978034,14973392,14634838,14560034,14550747,12917420,12853948,12852830,12837759,12774124,12730383,12690205,12637498,12612060,12597446,12592376,12586752,12566446,12520072,12480531,12477932,12237327,12215427,12213390,12203118,12200463,12181450,7515333,7488247,9704006 1300278,1300277,634668 196 AC003075,CH236948,CH471073,D31708,D38044,U28063,U28064,U28066,AA329775,BC021696,BC069390,BC070080,BQ020427,BQ024331,BX505160,D16354,L19872,NM_001621 NP_001612,EAL24281,EAW93686,EAW93687,BAA07235,AAA92082,AAA92083,AAA92084,AAH69390,AAH70080,BAA03857,AAA16210,P35869 Hs.171189 GDB:138471 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. 18172554,17980155,17890447,17559847,17513317,17244640,16344560,16084889,15758562,15474075,14702039,14672759,12777964,12477932,11835227,11423533,11393538,11181995,10574462,9887096,8889548,1070014 57491 AC010442,AC118458,AF293629,AF293639,CH471235,AB033060,AK127977,BC035358,BC121047,BC121048,BC151852,NM_020731,BC152406,BM682431,BX400426,DA051156,DA863025,EU293605 NP_065782,AAG33381,EAW50992,BAA86548,AAI51853,AAI52407,ABX89616,Q0VAI1,Q0VAI2,AAI60162 Hs.50823 AHH|AHHR|KIAA1234|MGC167813|MGC176630 protein-coding 1346562 AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 1580863 12504007,17110338,16696853,15489334,12604615,12508121,12477932,11554768,11042152,10931946,17353931 10598 NM_012111,AF111168,CH471061,AF161440,AF164791,AJ243310,BC000321,BC007398,CR594235,CR606034,CR608181,CR612927,CR616582,CR617792,CR618207,CR620829,CR623881 NP_036243,AAD09623,EAW81291,EAW81292,AAF29000,AAF80755,CAB45684,AAH00321,AAH07398,O95433 Hs.204041 AHA1|C14orf3|p38 protein-coding 1316203 AHSA2 AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) 15570572,14739935,14702039,12604615,12504007,12477932 130872 BC113671,BC117278,NM_152392,AC016747,CH471053,AF542548,AK092505,AK092817,AL833813,BC030998,BC050395,BC063789 AAI13672,AAI17279,Q719I0,NP_689605,AAY14686,EAX00002,EAX00003,EAX00004,EAX00005,EAX00006,EAX00007,EAX00008,EAX00009,AAQ09531,CAD38676 Hs.655602 DKFZp564C236|Hch1 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. 1625792,1625793,1625794,1580863 12203945,12153747,12773197,12725640,12642050,14718574,11922920,18337634,18316360,18281421,18089450,18085392,18065755,17960182,17889958,17882149,17851232,17702860,17611637,17557141,17318070,17303000,17062776,17010978,16968979,16898488,16740002,16567568,16335952,16318278,16117875,16113307,16046317,16024912,16002217,15931001,15917161,15882283,15806395,15599699,15592877,15589849,15489334,14760718,14667137,12914574,12754519,12665801,12556469,12477932,12207096,12140560,12071714,11788587,11439093,11415520,10947975,10550518,9322749,9003486,8940198,7906861,7736783,6833285,6803836,3944104,3924066,3474608,3356172,2760061,2645941,2054237 1625792,1625793,1625794 197 AAB29984 NM_001622,AB038689,AC068631,CH471052,D67013,AK292751,BC048198,BC052590,CR590483,CR590880,CR590983,CR591986,CR592598,CR592800,CR593230,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,AAH48198,AAH52590,BAA22651,AAA51683,AAB29984,P02765 Hs.324746 GDB:118985 A2HS|AHS|FETUA|HSGA protein-coding 1354128 AIC Aicardi syndrome 192 GDB:118986 1347771 AICDA activation-induced cytidine deaminase 1580863,1598906 10950930,11007475,11256614,18391550,18306229,17878393,17638864,17485517,17161027,17132718,17066440,17060445,16999936,16785531,16705187,16687409,16624806,16541139,16439679,16387847,16381901,16314506,16269615,16122802,15949042,15944282,15814733,15613101,15593119,15489336,15489334,15448152,15372234,15371439,15304391,15252444,15195091,15182647,15148397,15087440,15061213,14990977,14769937,14551145,14536088,12973929,12928399,12873980,12855567,12799424,12715918,12683974,12651944,12521993,12511417,12477932,12202747,12114543,12097915,12011459,11823785,11544457,11112359,11076863,16580072 1598906 57379 NM_020661,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,CR615215,DQ431660 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,Q8NFC4,Q8NFC5,Q9GZX7,CAL38484,ABM83915,ABM87236,Q8NFC3 Hs.149342 GDB:10796899 AID|ARP2|CDA2|HIGM2 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,BG705886,DA483113 NP_073742,CAH73929,CAH73930,CAI40463,CAI40464,EAX06366,BAB14281,BAF82554,CAH56257,AAH15535,AAH43142,AAH67805,Q5VW35,Q96BJ3 Hs.156625,Hs.534965,Hs.707666 C1orf80|FLJ12806|FLJ32421|RP11-378J18.7 protein-coding 1345176 AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) 198 GDB:119663 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. The gene expresses two transcripts. 1580863 9614071,8912632,18341653,17907195,17533487,17522098,17498268,17073733,17035944,17011575,17010532,16868985,16291819,16049345,15922740,15784173,15489334,15117732,14756805,14656967,14574404,12887599,12714565,12559634,12477932,11943136,11500035,10202016,8629302,8499947,7769138 199 NM_032955,AF129756,AL662801,AL662847,AL805934,BA000025,BX248305,CH471081,CR753892,NM_001623,CR759761,Y14768,AF088038,AF299327,AK290771,BC009474,CR542153,D86438,EF070982,EF070983,U19713,U49392,U95213 NP_001614,NP_116573,AAD18087,CAI18308,CAI18311,CAM25588,CAI17694,CAI17697,CAO72101,CAI18495,CAI18497,CAO03652,BAB63392,CAI95573,CAI95575,CAM26281,EAX03442,EAX03443,EAX03444,EAX03445,EAX03446,EAX03447,CAQ06958,CAQ06957,CAQ10843,CAQ10844,CAA75060,CAA75061,CAA75062,AAG39110,BAF83460,AAH09474,CAG46950,BAA13088,ABK35646,ABK35647,AAB05003,AAA92457,AAC24422,O43904,P55008,Q4V347,Q5ST86,Q5ST87,Q9UIV4 Hs.76364 GDB:6278877 AIF-1|IBA1|IRT-1 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. Three alternative transcripts encoding different isoforms have been identified for this gene. 1580863 15703386,15526035,15489334,15316071,15286713,15182854,14716299,14585540,12930708,12668724,12629154,12535654,12477932,12198487,12022952,11533664,11279485,10913597,10744629,9892620,9206994,9110174,8619474,15729291,9989411,16713569,17353931,18056262,17709377,17603079,17560018,17492772,17471535,17352692,17347867,17107772,17094969,16729031,16644725,16628003,16365034,16049016,15772651,1202295,16511342,12404120,15033690,11193032,14743216 9131 NM_145813,NM_145812,NM_004208,AL139234,CH471107,AF100928,AF131759,AK000775,AL049703,AL049704,AY795556,AY795557,BC111065,BC139738,BM807180,CR457379,CR606178,CR607158,DQ016496,DQ016498,DQ016500 NP_665812,NP_665811,NP_004199,EAX11810,EAX11811,EAX11812,AAD16436,AAD20036,CAB41267,CAB41268,AAV54053,AAV54054,AAI11066,AAI39739,CAG33660,AAY84737,AAY84739,AAY84741,O95831,Q1L6K4,Q1L6K6,Q2QKE4,Q5JUZ8,Q5RZ99,Q5RZA0 Hs.424932 GDB:9955084 AIF|MGC111425|PDCD8 programmed cell death 8 (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 15958387,11980907,12135761,17711848,17347867,15489334,15273740,15164054,14702039,14684364,12477932,10441517 84883 NM_032797,AL731540,CH471083,AF337957,AF506757,AK027403,AK127353,BC006121,BC023601,BX537621,CR622972 NP_116186,CAI13684,EAW54376,AAL73229,AAM77596,BAB55089,AAH06121,AAH23601,CAH56481,Q9BRQ8,ABM84018,ABM87363 Hs.655377 AMID|PRG3|RP11-367H5.2 apoptosis-inducing factor (aif)-like mitochondrion-associated inducer of death protein-coding 1604991 AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 15764604,16001080,15489334,15461802,14702039,12477932 150209 CR456342,CR617219,CR626811,NM_144704,NM_001018060,AC002470,CH471176,AK055035,AK094844,AK126917,BC032485 AAH32485,CAG30228,Q96NN9,NP_653305,NP_001018070,EAX02924,EAX02925,EAX02926,EAX02927,EAX02928,EAX02929,EAX02930,EAX02931,BAB70841,BAC04434,BAC86750 Hs.163543 AIFL|FLJ30473 protein-coding 1346084 AIG1 androgen-induced 1 1580863 15489334,14702039,14574404,12477932,11266118,10810093,9373149,8125298 51390 NM_016108,AL023581,AL136116,AL391726,AL450335,CH471051,AF151861,AF153605,AJ420480,AK001347,AK222475,BC009559,BC025278,BF725860,BX538067,BX640703,CR594659,CR604536 Q5T2H4,Q5THU2,Q9NVV5,ABM84217,ABM87621,NP_057192,CAI21389,CAI21390,CAI21391,CAI21392,CAI21393,CAI21394,CAI23449,CAI23450,CAI23451,CAI23452,CAI23455,CAI16928,CAI16929,CAI16930,CAI16931,CAI16932,EAW47869,EAW47870,AAD34098,AAD41087,BAA91640,BAD96195,AAH25278,CAD97997,CAE45823,Q53HV5,Q5T2H0,Q5T2H2,Q5T2H3 Hs.567501 AIG-1|DKFZp686F03136|FLJ10485|RP1-95L4.1|dJ95L4.1 protein-coding 1348070 AIH2 amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 200 GDB:118751 1346253 AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type 1358807 201 GDB:131443 1318513 AIM1 absent in melanoma 1 1580863 16511323,14702039,14574404,12693952,12477932,10737800,9096375,8700511,1680551 202 NM_001624,AL359292,AL390074,CH471051,U83116,AA574200,AI765826,AK025693,AK056705,AK125137,BC062788,BF743639,CR600498,CR601872,CV573838,U83115 NP_001615,CAC44021,CAH72091,EAW48412,EAW48413,AAB53792,AAH62788,AAB53791,Q6P5P8,Q96QW7,Q9Y4K1,AAI56647 Hs.643590,Hs.708085 GDB:120758,GDB:6268479 ST4 protein-coding 1318501 AIM1L absent in melanoma 1-like 12477932,9716656,8401585,17672918,16710414,16344560,15203218,14702039 55057 NM_001039775,NM_017977,AL451139,CH471059,AK000902,AK095339,AL137264,BC136870,CD628848,DA439029,DR004727 NP_001034864,NP_060447,CAI15847,CAI15850,CAI15852,EAX07819,BAA91416,BAC04533,CAB70663,AAI36871,Q5T151,Q8N1P7,Q9NTH7,Q9NWG5 Hs.128738,Hs.657860 GDB:9993040 DKFZp434L1713|FLJ10040|FLJ38020 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. 1580863 9242382,17726700,16710414,16432157,15582594,15076139,12477932,10828447,9865494 9447 NM_004833,AL359753,CH471121,AF024714,AK292042,BC010940 NP_004824,CAI15087,CAI15088,CAI15089,EAW52795,AAB81613,BAF84731,AAH10940,O14862,Q5T3V8,Q5T3W0 Hs.281898 GDB:7087503 PYHIN4 protein-coding 1354071 AIP aryl hydrocarbon receptor interacting protein AIP may play a positive role in AHR-mediated signalling possibly by influencing its receptivity for ligand and/or its nuclear targeting. AIP is the cellular negative regulator of the HBV X protein. 1580863 9111057,9447995,14557246,8972861,18484068,17916996,17914118,17893251,17613551,17609395,17360484,17341560,17299063,17244780,17242703,17018653,16936638,16807248,16728643,15592455,15489334,14730974,12837759,12721663,12482853,12477932,12361709,12065584,12036304,11805120,11259606,11013261,10986286,10690880,9837941,9083006,7961671 9049 NM_003977,AM236341,AP001184,AP003419,CH471076,BC104797,BC104827,CR591514,CR593870,CR594744,CR600563,CR600666,CR601003,CR601190,CR601849,CR604495,CR604647,CR607044,CR618527,CR620315,CR621665,CR623440,U31913,U78521 NP_003968,CAJ85657,EAW74637,AAI04798,AAI04828,AAB39923,AAB59004,O00170,ABZ92142 Hs.412433 GDB:9954808 ARA9|FKBP16|FKBP37|SMTPHN|XAP2 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. 1599003,70801,1580863 14555765,10615133,12374762,16272259,15489334,15469903,15365173,15347646,15249368,15180275,15081406,14702039,12477932,11929855,11548141,10331942,8889548 1599003,70801 23746 NM_001033055,NM_001033054,NM_014336,AC055872,AF180472,CH471108,AF038437,AF148864,AF525970,AJ633677,AJ633678,AJ830742,AJ830743,AK023970,BC007994,BC012055,BE778451,BM685943,BX537907,BX647279,BX953335 NP_001028227,NP_001028226,NP_055151,AAF26708,EAW90310,EAW90311,EAW90312,EAW90313,EAW90314,EAW90315,AAQ13422,AAF74023,AAM88405,CAG17882,CAG17883,CAH25995,CAH25996,BAB14744,AAH12055,CAD97892,Q659W3,Q659W4,Q6ZZB5,Q6ZZB6,Q71V08,Q7Z3H1,Q8N6A0,Q9NZN9,ABM83186,ABM86388 Hs.279887 GDB:10029257 AIPL2|LCA4 aryl hydrocarbon receptor-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). 1599008,1580863 9398839,9398840,18324482,18320920,18200029,18194361,18083234,17997173,17974569,17938200,17928069,17850514,17697502,17687331,17675238,17323409,17220063,17118990,17101293,16890195,16774540,16552513,16313305,16310047,16114041,15964547,15894121,15886230,15712268,15696198,15649886,15482854,15157567,15150263,14974083,14734522,12651856,12625412,12542742,12477932,12173302,12050215,11836330,11803052,11600535,11533054,11524733,11524731,11298085,11275943,11274163,10830953,10748110,10677297,9931335,9931333,9888391,9735375,9717837,9267805,7987397 1599008 326 NM_000383,NM_000658,AB006684,AJ009610,AP001060,AP001754,CH471079,AB006682,AB006683,AB006685,BC142608,Z97990 NP_000374,NP_000649,BAA23990,BAA23991,BAA23992,CAA08759,BAA95560,EAX09441,EAX09443,BAA23988,BAA23989,BAA23993,AAI42609,CAB10790,O43918 Hs.129829 GDB:567198 AIRE1|APECED|APS1|APSI|PGA1 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) protein-coding 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 17267690,16707570,16410724,14595118,12477932,9110174,8619474 55966 NM_018836,NM_001042478,AL023586,AL391808,CH471130,Z98886,AF052143,AF175409,AL049672,AL049673,AY282806,BC041648 NP_061324,NP_001035943,CAH72438,EAW71504,AAD53278,CAB41245,CAB41246,AAP35025,Q9UKB5,AAI60124 Hs.25924 MOT8|RP3-426F10.1|SHREW-1|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. 1300279,1580863,1601154,1300280,1300048 2542324,211388,17353931,16714292,16344560,15489334,12649162,12477932,12432079,12124227,10557075,10233365,9504408,9373149,8125298,7947281,6305188,3024483,2541064,183954 1300279,1601154,1300280 203 NM_000476,AL157935,CH471090,J04809,AB021871,AK223501,BC001116,BC036803,BC100022,BT019580,CR541977,CR542004,DA077967 NP_000467,CAI12606,CAI12607,CAI12608,EAW87706,EAW87707,EAW87708,EAW87709,AAA51686,BAA78534,BAD97221,AAH01116,AAI00023,AAV38387,CAG46775,CAG46801,P00568,Q53EY8,Q5T9B7,Q6FGX9,ABM83502,ABM86718 Hs.175473 GDB:119664 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. 1300048 9504408,6182143,17952061,16710414,15862967,15489334,14702039,12477932,10218571,9434148,8843353,6961883,195572 204 NM_013411,NM_001625,AL020995,CH471059,AB005621,AB005622,AK023758,AK291676,AY080899,AY080900,BC009405,BC026705,BC070127,BC090040,BX504559,CR590067,CR594112,CR596376,CR596653,CR605326,CR606091,CR606245,CR607055,CR608413,CR609421,CR615469,CR616468,CR616874,CR620027,CR621972,CR623201,U39945,U54645,U84371 NP_037543,NP_001616,EAX07483,EAX07484,EAX07485,EAX07486,BAC16747,BAC16748,BAF84365,AAL87027,AAL87028,AAH09405,AAH70127,AAH90040,AAC52061,AAC13881,AAB41790,P54819,Q5TIF8 Hs.470907 GDB:118987 ADK2 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 XR_017211 protein-coding 737588 AK3 adenylate kinase 3 1580863,1300048 15489334,15164053,14702039,12477932,11485571,182062 50808 NM_016282,AL136231,AL353151,CH471071,AB021870,AF086913,AF100785,AF183419,AK001553,AK001951,AK027534,AK098205,AK124824,BC013771,BX640794 NP_057366,CAI41260,CAI41262,CAH72282,CAH72283,EAW58779,EAW58780,EAW58781,BAA87913,AAP97143,AAP97224,AAG09688,BAA91753,BAA91996,BAB55183,AAH13771,Q7Z4Y4,Q7Z531,Q9HC01,Q9UIJ7,ABM82586,ABM85773 Hs.493362 AK3L1|AK6|AKL3L|AKL3L1|FIX 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. 15489334,12477932,11485571,10544043,9813319,9504419,7140357,1639383,182062 205 NM_001005353,NM_013410,NM_001002921,AC099680,AL356212,CH471059,AK025926,AK026966,BC016180,BC040224,BC066944,BC146653,BF205061,BM763432,BU164554,CR456830,X60673,NM_203464 NP_982289,NP_001005353,NP_037542,NP_001002921,EAX06538,EAX06540,EAX06544,AAH16180,AAH40224,AAH66944,AAI46654,CAG33111,CAA43088,P27144,ABM83220,ABM86420 Hs.10862,Hs.592601 GDB:118988 AK3|AK4 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 GDB:132659 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. 1580863 10215863,15489334,14702039,12477932 26289 NM_174858,NM_012093,AC093433,AC093575,AC095030,CH471059,AF062595,AF445193,AK090967,AY171600,BC012467,BC033896,BC036666,CR541890 NP_777283,NP_036225,EAX06377,EAX06378,EAX06379,AAD27956,AAP97322,BAC03558,AAO16520,AAH12467,AAH33896,AAH36666,CAG46688,Q5U622,Q6FH66,Q7Z4T5,Q86YS0,Q8N291,Q8N464,Q9Y6K8 Hs.559718 GDB:10795362 AK6|MGC33326 protein-coding 1320025 AK7 adenylate kinase 7 1580863 12477932,15489334,14702039,12508121 122481 NM_152327,AL163051,AL359240,CH471061,AK057426,BC023986,BC035256 NP_689540,EAW81636,EAW81637,EAW81638,EAW81639,EAW81640,BAB71480,Q96M32,ABM82637,ABM85814 Hs.667462 FLJ32864 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. 1580863 8769136,17884635,16344560,15489334,15302935,15143158,14759258,12697839,12634056,12477932,12414807,12223483,11807172,11546661,11483602,10995432,10764601,10352013,9238861,9065479,7499250 8165 NM_003488,AC007114,CH471109,AF015910,AK292416,BC000729,CR594012,DA455114,U34074,X97335 NP_003479,EAW94515,EAW94516,EAW94517,EAW94518,AAB64298,BAF85105,AAH00729,AAC50279,CAA66000,O15113,Q92667,ABM84528,ABW03447 Hs.463506 GDB:1230474 AKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|MGC1807|PRKA1|SAKAP84 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. 1580863 9326583,17786291,17485678,17143557,16956908,15489334,15488188,14531806,12646697,12477932,12206784,11807172,11248059,9238861,7505766,16189514 11216 NM_007202,AC005730,CH471212,AF037439,BC017055,DQ270159,U00957 NP_009133,EAW50913,AAB92260,AAH17055,ABB76684,O43572,Q2XPN4,ABM82403,ABM85592 Hs.708043 GDB:9957433 D-AKAP2|MGC9414|PRKA10 a kinase anchor 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. 632175,1580863 10209101,17353931,15057823,14702039,12168954,12147701,11823486,11807172,11152471,10864471,9734811,9238861,8621616,12672969 632175 11215 NM_016248,AL136527,CH471075,AB014529,AF176555,AK002166,AK074384,CR627087 NP_057332,CAB89419,EAX08676,EAX08677,BAA31604,AAF07045,BAA92117,CAH10362,Q6AI61,Q9UKA4,AAI56136 Hs.105105 GDB:9957430 AKAP220|DKFZp781I12161|FLJ11304|KIAA0629|PRKA11 protein-coding 737243 AKAP12 A kinase (PRKA) anchor protein (gravin) 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. 1580863 10858453,18199717,17577780,17442832,17442483,17200117,17081983,17081159,16762919,16642035,15923193,15590635,15345747,15258566,14657015,12857743,12477932,11807172,11766078,11316952,11309381,9880537,9604001,9238861,9000000,1522245 9590 NM_005100,NM_144497,AL033392,AL356535,AL590413,CH471051,AB003476,AB210003,AF086250,BC000188,BC006094,BC015830,BC022814,BC046095,BC047728,BC070151,BC117679,BC117680,CR749527,CR936604,M96322,U81607,AF001504 NP_005091,NP_653080,CAI20467,CAI20468,CAI16151,CAI13590,CAI13591,EAW47753,EAW47754,EAW47755,BAA19927,BAE06085,AAI56287,AAI57068,Q86TK7,AAB58938,AAH46095,AAH47728,AAH70151,CAH18338,CAI56750,AAA35931,AAC51366,Q02952,Q5CZB5,Q6NSG9,Q86TJ9 Hs.371240 GDB:9246332 AKAP250|DKFZp686M0430|DKFZp686O0331 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. 7929081,1860836,15383279,16964243,16956908,16469733,16412732,16234258,15691829,15489334,15324660,15249197,15229649,14702039,14660653,14636890,12972258,12672969,12663445,12477932,12423633,12270917,11696353,11579095,11546812,11285229,11278452,1618839,16301118,17353931,8290273,9891067,18093280,17878165,17081983,9627117 11214 NM_007200,NM_006738,NM_144767,AC021739,AC087286,AC104046,AC110592,CH471101,AB055890,AB209414,AF086293,AF126008,AF387101,AF406992,AK022014,AK026186,AK091210,AK125331,AL133426,AL133427,AL133429,AL133430,AL135297,BC000269,BC009213,BC017368,BC019662,BC040109,BC050312,BC063592,BC089394,CR596185,M90360 NP_009131,NP_006729,NP_658913,EAX01973,EAX01974,EAX01975,EAX01976,BAB62913,BAD92651,AAD21311,AAL40923,AAL11723,BAB13953,AAH50312,AAA58670,Q12802,Q9HA97 Hs.459211,Hs.703123 GDB:9957424 AKAP-Lbc|BRX|FLJ11952|FLJ43341|HA-3|Ht31|LBC|PROTO-LB|PROTO-LBC|c-lbc 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. 15489334,12477932,12475942,11329013 158798 BC066357,BG208671,NM_178813,NM_001008534,NM_001008535,AC002477,CH471161,AF514780,AF514781,AF514782 AAP20827,AAH66357,Q86UN6,NP_848928,NP_001008534,NP_001008535,EAW89839,AAP20825,AAP20826 Hs.592245 AKAP28 protein-coding 1312990 AKAP2 A kinase (PRKA) anchor protein 2 17081983,14702039,12477932,11478809,10231032,9497389,12646697,12672969 11217 NM_001004065,AL158823,AL353598,AJ420463,AK000306,AK022693,AK057098,BC010513,BE674805 NP_001004065,Q5JTZ4,Q5T721,Q9Y2D5 Hs.591908 GDB:9957438 AKAPKL|PALM2|PRKA2 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. 1580863 10319321,17683036,16005946,15257753,14618620,12606363,12509440,12477932,11807172,11696326,11278869,10529264,10334916,9238861 10566 NM_006422,AC005832,CH471116,AF087003,AF093408,AK074722,AK292451,BC047535,U85715 NP_006413,EAW88840,AAC35854,AAC63371,BAF85140,AAH47535,AAD21218,O75969,Q86X01 Hs.98397 GDB:9957665 AKAP110|FSP95|PRKA3|SOB1 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. 1580863 9822690,17712481,17683036,15772651,15489334,12606363,12509440,12477932,11807172,11476771,9852104,9514854,9238861 8852 NM_139289,NM_003886,AL663119,CH471180,AF072756,AK292463,BC033007,BC070150,BC126250,BC126252,Y15195 NP_003877,NP_647450,EAW89924,EAW89925,EAW89926,AAC79433,BAF85152,AAI26251,AAI26253,CAA75494,Q5JQC9 Hs.97633 GDB:9957411 AKAP82|FSC1|HI|hAKAP82|p82 75 kda fibrous sheath protein 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. 1580863 1512224,17548344,11807172,11557526,11287423,11179200,10939335,10762347,10753752,10537145,10037748,9765270,9238861,9202019,8509414,7528941,1860836,1733921,1618839,16973443,16940053,16344560,15671033,12938160,12672969,12595241,12507994,12477932,12177200,12114507,12077483,11886862,11823486 9495 NM_004857,AL122035,CH471061,BC057229,BC131516,DA942424,M90359 NP_004848,EAW80862,AAH57229,AAI31517,AAA58363,P24588,Q6PG46 Hs.656683 GDB:9956864 AKAP75|AKAP79|H21 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. 1580863 10413680,7721854,14702039,12754202,12477932,12168954,11807172,11352932,11296225,10830164,9238861,9205841,12672969 9472 NM_004274,AL049781,AL117672,AL132988,AL136298,CH471078,AB002309,AK094160,BC137232,BC137233,BC150185,BC150288,BC154413,U17195 NP_004265,EAW65931,EAW65932,EAW65933,BAA20770,AAI37233,AAI37234,AAI50186,AAI50289,AAI54414,AAA92354,Q13023 Hs.509083 GDB:9785546 ADAP100|ADAP6|AKAP100|KIAA0311|MGC165020|PRKA6|mAKAP 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. 1580863 9545239,10613906,18082768,17244820,15489334,14574404,12804576,12477932,12672969 9465 BC128398,BC128399,BC141926,BC141927,CR618092,NM_138633,NM_004842,AL136110,AL137063,AL137222,CH471051,AF152929,AF161075,AK290271,BC016927,BC063499,BC073847,BC094732,BC110897,BC118601,BC118606,NM_016377 AAI28399,AAI28400,AAI41927,AAI41928,O43687,Q2TAJ5,Q6P4D3,Q9P0M2,AAI52941,AAI56907,NP_057461,NP_619539,NP_004833,CAI21507,CAI21508,CAI21509,CAI19001,CAI19002,CAI19003,CAI19788,EAW48057,EAW48058,EAW48059,EAW48060,AAF28106,AAF26676,BAF82960,AAH16927,AAH63499,AAH73847,AAH94732,AAI10898,AAI18602,AAI18607 Hs.486483 GDB:9956777 AKAP18 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. 1580863 9473338,17081983,16964243,16227597,15302935,15057824,14743216,14641107,12740381,12477932,12414807,11964380,11807172,11279182,10791967,10601332,9238861 10270 NM_005858,AC005785,AC093060,CH471106,AL050160,BC037270,Y11997 NP_005849,AAC62838,EAW84474,CAB43301,AAH37270,CAA72722,O43823,Q8NE02,Q9UG73 Hs.631640 GDB:9955842 AKAP95|DKFZp586B1222 protein-coding 1347470 AKAP8L A kinase (PRKA) anchor protein 8-like 1580863 10748171,17353931,10761695,18313049,17594903,16391387,15489334,15302935,14743216,14702039,12950172,12538639,12477932,12107412,11402034,11034899,10697960,9853615,9373149,8889548,8125298,16189514 26993 NM_014371,AC005785,AC006128,CH471106,AB015332,AB025905,AF199414,AJ243467,AK001594,AK094736,AK225046,AK225291,AL133576,BC000713,BI458860,BM726437,BQ185989,BU740636,CD672169,BQ006924 NP_055186,EAW84475,EAW84476,EAW84477,EAW84478,BAA34791,BAA85003,AAF86048,CAB65092,CAB63723,AAH00713,Q9UF73,Q9ULX6,ABM82779,ABM85969 Hs.399800 DKFZp434L0650|HA95|HAP95|NAKAP|NAKAP95 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 many 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. 631928,1580863 9482789,10390370,10202149,18334708,18093912,17352745,16741161,16356588,16339516,16198290,15670215,15630448,15047863,14982933,14702039,12853948,12690205,12477932,12270714,12221128,12163479,12036294,12015314,11799244,10945988,10862698,10358086,9915845,9872452,12672969 631928 10142 NM_005751,NM_147185,NM_147166,AC000066,AC000120,AC003086,AC004013,AJ010770,CH236949,NM_147171,AB018346,AB019691,AF026245,AF083037,AF091711,AF247727,AJ131693,AK000270,AK025160,AK026444,AK057546,AK074869,AL117418,AY528715,BC015533,CH471091,BC027455,BC040932,BC062448 NP_671700,NP_005742,NP_671714,NP_671695,AAC60380,AAS07419,AAB96867,CAA09361,EAL24155,EAL24156,EAL24157,EAL24158,EAW76860,EAW76861,EAW76862,EAW76863,EAW76864,EAW76865,EAW76866,EAW76867,EAW76868,BAA34523,BAA78718,AAB86384,AAD22767,AAD39719,AAK51115,CAB40713,CAB55912,AAT44400,AAH15533,AAH40932,Q5GIA7,Q5IBP5,Q6PJH3,Q8IW64,Q96KG3,Q99996,Q9UFL2 Hs.651221 GDB:9955303 AKAP350|AKAP450|CG-NAP|HYPERION|KIAA0803|MU-RMS-40.16A|PRKA9|YOTIAO protein-coding 1317844 AKNA AT-hook transcription factor 15869410,14702039,12477932,11853319,11268217 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,BAC86459,BAC85132,BAD18725,AAU34186,AAU34187,AAU34188,AAU34189,AAU34190,AAU34191,AAU34192,AAU34193,AAH42202,AAH55285,Q64FX5,Q64FX9,Q64FY0,Q64FY1,Q7Z591 Hs.494895 GDB:10797511 FLJ31001|FLJ33184|KIAA1968|RP11-82I1.4 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. 1300048 2498333,15231747,17149600,16543247,15769597,15489334,15299353,12477932,11716357,11444797,10510318,10486210,10393438,9693960,8405190,8268209,7827091,7669785,3615425,2113526,1901806,1602151,16189514 10327 NM_006066,NM_153326,AF036683,AF112482,AF112485,AL355480,CH471059,AK293083,BC000670,BC005394,BC033287,BT007003,CR457010,CR593332,CR593548,CR598490,CR600290,CR604674,CR605893,CR606043,CR607253,CR613190,CR614844,CR616472,CR616743,CR617059,CR621968,J04794 NP_006057,NP_697021,AAB92369,AAF01260,CAI22458,CAI22459,EAX06970,EAX06971,EAX06972,EAX06973,EAX06974,BAF85772,AAH00670,AAH05394,AAP35649,CAG33291,AAA51711,P14550,Q5T621,Q6IAZ4,ABM81608,ABM84696,ABM84791 Hs.654435 GDB:9864778 ALDR1|ALR|DD3|MGC12529|MGC1380 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. There are a few putative pseudogenes for this gene, and one of them has been confirmed and mapped to chromosome 3. 1626081,1626080,1626089,1626092,734542,1599728,1626082,1626083,1626084,1626087,1626088,1626079,1300048,1580863 8645003,2112546,17353931,8435445,18434430,18385795,17968325,17851230,17563730,17418233,17270157,17139089,17018629,16936152,16911628,16701918,16620264,16545977,16176189,16174723,16021519,15973199,15745835,15637423,15569136,15504980,15489334,15284221,15284219,15277434,15270790,15251463,15231748,15181092,15162486,14996095,14694018,14694017,14662023,14582038,12690205,12660865,12604221,12486717,12477932,12446366,11958479,11874426,11842041,11796181,11499839,11449315,11444797,11306081,11182213,11095596,10510318,10075698,9565553,9405046,9195951,8877273,8615700,8405190,8347133,8343525,8281941,8268209,8245005,8234324,7789640,6417042,2510130,2504709,2498333,2492527,2111143,1901857,1901827,1621098,1447221,16189514 1626081,1626080,1626089,1626092,734542,1599728,1626082,1626083,1626084,1626087,1626088,1626079 231 J05017,J05474,M34720,X15414,NM_001628,AC078847,AF032455,CH236950,CH471070,M34721,M59783,U72619,AB209796,AF328729,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 AAA51714,AAA51715,AAA35560,CAA33460,O15289,P15121,Q59EL5,Q6FGA4,Q6ICP2,ABM81684,ABM83472,ABM84847,ABM86683,NP_001619,AAB88851,EAL24070,EAW83814,EAW83815,AAA35561,AAA51712,AAB61992,BAD93033,AAN09721,AAH00260,AAH05387,AAH10391,AAV38662,CAG29347,CAG47000,AAA51713 Hs.521212 GDB:128041 ADR|ALDR1|ALR2|AR|MGC1804 aldehyde reductase 1 (low km aldose reductase) (5.8 kb psti fragment, probably the functional gene) 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. 1580863 9565553,18056116,18087047,17905306,17597105,17425679,17300864,17209433,16204895,16127462,15936242,15928807,15745835,15489334,12882871,12732097,12477932,12365083,11703436,9765596,9537432 57016 NM_020299,AC078847,CH236950,CH471070,AF044961,AF052577,AF524864,BC008837,BT006794,CR541801,U37100 NP_064695,EAL24069,EAW83816,AAC15671,AAC36465,AAO13380,AAH08837,AAP35440,CAG46600,AAC17469,O60218,Q6FHF3,Q8IWZ1,ABM81604,ABW03272 Hs.116724 GDB:10796851 AKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSI|MGC14103 protein-coding 1345706 AKR1B1P1 aldehyde reductase family 1, member B1 pseudogene 1 8244370 401982 NG_006432,AC096537 GDB:131721 ALDRL1 pseudo 1343467 AKR1B1P2 aldo-keto reductase family 1, member B1 pseudogene 2 8244370,1612607 236 NG_001071,AC117458,M84454 GDB:128834 ALDRP pseudo 1351686 AKR1B1P3 aldo-keto reductase family 1, member B1 pseudogene 3 8244370 729347 NG_007132,AC100865 GDB:131723 ALDRL3 pseudo 1349917 AKR1B1P4 aldo-keto reductase family 1, member B1 pseudogene 4 8244370 390402 NG_006989,AL139320 GDB:131724 ALDRL4 pseudo 1345288 AKR1B1P5 aldo-keto reductase family 1, member B1 pseudogene 5 390482 NG_007013,AL359219 AKR1B1P pseudo 1626550 AKR1B1P7 aldo-keto reductase family 1, member B1 pseudogene 7 126242 XR_016331,XR_019437 Hs.646376 pseudo 1626553 AKR1B1P8 aldo-keto reductase family 1, member B1 pseudogene 8 392525 XR_016240,XR_018340 Hs.648351 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. 1580863,1626148 8486699,7789999,17945194,17697149,17618725,17149600,16543247,16361083,16338060,15494612,15492289,15489334,15212687,15164054,13678667,12899831,12733716,12579257,12477932,11956619,11514561,11013348,10672042,10510318,8573067,8274401,8172617,8132567,8011662,7626489,7515059,16189514 1626148 1645 NM_001353,XM_001724839,AB032150,AC091817,AL713867,U05861,AB031083,BC015490,BC020216,BC040210,BM923712,BT007197,CB119749,CR611068,D26124,M86609,S68290,U05684 NP_001344,XP_001724891,BAA92886,CAI16409,CAI16410,AAA18115,BAA92883,AAH15490,AAH20216,AAH40210,AAP35861,BAA05121,AAB02880,AAD14012,AAA16227,Q04828,ABM82410,ABM84849 Hs.460260 GDB:202890 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DDH|DDH1|H-37|HAKRC|MBAB|MGC8954 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. 1580863,1626148 8573067,18251165,17432832,17203165,16478829,16411748,16216911,15492289,15489334,15383625,15212687,15188492,14702039,14671194,13678667,12810547,12477932,12416991,11854486,11514561,11513593,10672042,9716498,8920937,8486699,8274401,8011662,7959017,7789999,2187532,16189514 1626148 1646 NM_205845,NM_001354,AB032153,AL391427,AL713867,L32592,AB021654,AB031084,AB209017,AK091194,AK290304,BC007024,BC063574,BT006653,M33376,S68330,U05598 NP_995317,NP_001345,BAA92891,CAI14726,CAI16408,AAB38486,BAA36169,BAA92884,BAD92254,BAF82993,AAH07024,AAH63574,AAP35299,AAD14013,AAA20937,P52895,Q59GU2,ABM81606,ABM84788 Hs.460260,Hs.567256 GDB:385038 AKR1C-pseudo|BABP|DD|DD2|DDH2|HAKRD|HBAB|MCDR2 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. 1580863 9792917,11256614,18339682,18306354,17940109,17697149,17583494,17507624,17220347,17166832,17149600,17071532,16983398,16601286,16480815,16475787,16381901,16338060,16337083,16302261,16263811,16189514,16169070,15814298,15781210,15582534,15489336,15489334,15284179,15212687,15164054,15087468,14997212,14996743,14979715,14671194,13678667,12477932,11165022,11076863,10998348,10672042,10622721,10557352,10393440,9927279,9862446,9415401,8718859,8274401,7789999,7788527,7650035,7626489 8644 AB028065,AB032157,AL391427,CH471072,L43839,AB018580,AF149416,AK290365,AV761799,BC001479,BC019230,NM_003739,BT007286,D17793,DQ269985,S68288 NP_003730,BAA88489,BAA92892,CAI14729,EAW86452,EAW86453,EAW86454,AAB41916,BAA88488,AAF07272,BAF83054,AAH01479,AAH19230,AAP35950,BAA04619,ABB76132,AAD14011,P42330,Q2XPP3,CAL37801,ABM81605,ABM84786 Hs.78183 GDB:9864779 DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|KIAA0119|hluPGFS 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. 1580863 7650035,8172617,2187532,17207797,16344854,15987428,15489334,15164054,12544512,12477932,12220531,11284743,11158055,10672042,10634139,8274401,7789999,7626489,1530633 1109 NM_001818,AB032163,AL355303,CH471072,D89962,AB031085,AB045829,BC020744,D26125,M33375,S68287 NP_001809,BAA92893,CAI14202,EAW86450,BAB43901,BAA92885,BAA99542,AAH20744,BAA05122,AAA35658,AAD14010,P17516,Q96SD9,ABM82350,ABM85524 Hs.567245 GDB:127896 3-alpha-HSD|C11|CDR|CHDR|DD4|HAKRA|MGC22581 protein-coding 1316753 AKR1CL1 aldo-keto reductase family 1, member C-like 1 15164054,12477932 340811 NM_001007536,AL355303,AL391427,CH471072,AK131335,BC101204,BC101205 NP_001007537,CAI14201,CAI14727,EAW86451,BAD18494,AAI01205,AAI01206,Q5T2L2 Hs.282513 FLJ16347 protein-coding 1320023 AKR1CL2 aldo-keto reductase family 1, member C-like 2 1580863 16344560,15118078,12604216,12477932,8889548 83592 AC091817,CH471072,AB040820,AB040821,AB040822,AB055603,AF263242,AK074211,BC002862,BC023972,BU741321,CR598545,DA006578,NM_001040177 NP_001035267,EAW86461,EAW86462,EAW86463,EAW86464,EAW86465,EAW86466,BAC54565,BAC54566,BAC54567,BAC54568,AAK58523,AAH02862,Q96JD6 Hs.657944 AKRDC1|LoopADR|MGC10612 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. 1580863 7508385,16123077,12690205,11342103,11329013,10343119,9024384 6718 NM_005989,AC024082,AC083867,AF283651,AF283652,AF283653,AF283654,AF283655,AF283656,AF283657,AF283658,AF283659,CH236950,CH471070,AK058142,AK289425,BC130625,BC130627,BG210362,CB111926,Z28339 NP_005980,AAG39381,EAL24049,EAW83881,EAW83882,BAB71682,BAF82114,AAI30626,AAI30628,CAA82193,P51857,Q96LK9 Hs.201667 GDB:313097 3o5bred|SRD5B1 protein-coding 1345885 AKR1D1P aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) pseudogene 11342103,10343119 80701 NG_002683,NG_007384,AF283650,AL031733 GDB:10450533 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 9576847,17591773,16710414,16429158,15489334,12879023,12477932,12071861,9823300,9373149,8125298,16189514 8574 NM_003689,AL035413,CH471134,AF026947,AK225267,Y16675,CR618917,CR625016,BC004111,BC007352,BC010852,BC011586,BC012171,BC013996,BK000395,BT007347,CR597954,CR603343,CR606608,CR606766,CR610843,CR614593,CR617181 NP_003680,CAB72321,EAW94881,AAC52104,CAA76347,O43488,ABM81929,ABM85108,AAH04111,AAH07352,AAH10852,AAH11586,AAH12171,AAH13996,DAA00088,AAP36011 Hs.571886 GDB:9955680 AFAR|AFAR1|AFB1-AR1|AKR7 protein-coding 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 16189514,15489334,12879023,12477932,10383892,16710414 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 Hs.6980 GDB:9957810 AFAR2 aflatoxin b1 aldehyde reductase 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. 1580863,734544,734543,1358369,1643334,1643330,1643332,1643333,734957,625444,1643331,2290458 11994271,7891724,9829964,10490848,11274386,16139227,10570282,14749367,15231831,10748004,8978681,10376602,16280327,10958679,9381178,9812896,10485710,10698680,11715018,12167717,12244303,12524439,15183529,15718470,15808505,18466879,18395980,18355439,18316593,18264090,18262492,18256540,18249092,18227124,18216097,18204829,18199536,18199533,18198266,18197291,18187454,18182859,18174256,18167217,18097023,18087195,18083769,18079201,18064631,18063683,18048937,18048359,18046412,18041764,18037896,18035048,18023414,18021174,17977950,17962807,17960583,17959676,17951252,17950696,17935714,17932490,17928528,17925408,17924977,17921701,17915974,17914096,17914025,17909223,17906677,17901375,17898861,17895832,17892507,17890457,17883592,17855350,16977260,16972255,16962653,16951146,16946008,16932738,16926151,16916907,16912864,16897758,16862180,16849522,16844778,16842970,16840713,16839745,16822839,16820947,16820098,16818690,16797529,16792529,16790529,16790501,16785234,16775835,16774943,16763222,16732486,16723503,16684529,16682946,16670089,16651639,16644866,16616456,16601838,16583435,16571745,16568092,16564100,16551632,16549426,16543232,16537497,16532036,16532026,16508008,16478297,16474850,16466644,16453020,16434970,16428439,16412424,16407271,16407258,16405925,16395129,16373405,16365168,16354698,16338927,16293694,16282323,16278380,16274701,16263580,16243840,16224021,16216590,16203862,16202996,16177823,16174774,16163388,16160160,16148125,16142341,16141217,16128748,16115861,16114056,16099944,16091017,16055703,16049961,16049004,16036916,16027169,16027121,16026766,16012720,16007182,16007172,16007163,15998799,15994200,15993382,15987444,15982448,15961723,15922745,17825284,17825267,17823925,17822324,17804734,17804197,17761832,17726016,17725107,17721920,17716861,17712528,17696196,17681738,17666398,17638918,17635910,17616691,17616684,17616681,17615157,17612563,17611497,17609269,17606718,17601486,17599906,17599831,17584963,17581609,17580302,17577629,17569669,17566113,17565979,17553806,17551921,17549359,17546049,17544543,17544405,17522703,17522055,17827393,17826033,17521720,17520698,17513702,17513297,17512923,17507800,17507655,17504381,17501982,17495959,17495954,17493174,17483438,17478078,17471535,17470458,17469127,17468516,17462862,17461449,17458890,17443665,17428466,17406055,17404186,17400190,17386267,17383860,17375124,17360849,17351066,17342093,17335965,17333095,17318262,17317825,17317726,17310852,17307335,17300918,17299206,17287851,17276404,17244606,17235455,17233643,17215852,17214972,17179152,17173971,17169805,17151107,17148458,17143278,17141917,17136481,17136479,17128418,17113264,17099727,17098228,17097759,17088265,17081983,17068339,17065200,17060455,17052453,17050554,17043653,17041888,17024099,17016437,17015676,17012749,17008323,17006756,16990258,16988010,16987250,16987028,16981720,15545519,15545271,15539407,15533996,15525681,15522255,15489334,15475446,15467757,15465021,15459205,15389633,15388791,15385469,15342781,15331441,15326564,15316080,15284024,15283964,15271644,15263908,15262978,15262962,15242771,15217935,15203190,15194442,15187138,15187088,15156201,15146197,15136501,15118108,15115729,15102693,15067058,15060171,15047866,15047604,15026145,15016818,15010337,15001646,14985374,14973226,14761976,14755253,14742298,14713953,14702039,14679206,14657000,14647146,14645242,14636889,15911620,15905178,15896313,15888491,15879168,15861136,15845651,15845076,15837948,15833736,15831676,15817639,15809304,15806160,15802268,15784622,15778376,15743789,15723049,15722337,15710591,15705789,15668028,15665818,15665327,15609321,15607733,15581622,15574337,15572689,15546863,14625285,14623889,14612949,14611643,14568991,14566704,14560023,14534536,14523021,14520710,14500673,12972603,12952968,12919677,12888921,12874217,12853467,12808093,12808085,12791994,12783873,12782295,12768030,12757707,12741986,12734380,12727836,12722480,12687010,12637511,12621049,12535517,12529294,12527373,12477932,12458207,12446787,12446767,12438239,12393747,12376533,12297295,12244302,12244301,12218048,12194869,12176997,12176338,12176337,12167664,12150915,12149249,12145204,12138205,12138087,12124386,12112022,12077256,12070137,12062094,12062056,12042314,12011046,12009899,11994280,11976320,11960368,11956222,11923280,11903042,11902142,11884598,11877387,11855836,11828257,11825911,11809791,11782427,11777913,12592338,16841089,16524887,10869418,17157319,15689238,11208609,15616007,16189514,14749388,14749719,14499622,11278894,15818404,15580267,15688030,15678105,1533586,11756412,11710897,11707464,11707444,11696579,11689711,11598301,11585925,11583630,11579209,11546794,11535620,11508278,11504915,11445557,11438723,11410591,11410590,11404460,11313479,11278835,11156964,11156376,11154281,11154276,11139588,11116148,11042204,11035810,10995457,10983986,10930578,10926925,10910062,10896934,10872470,10869359,10866658,10833263,10635328,10617634,10576742,10542266,10527852,10497255,10491192,10490823,10485711,10454575,10438924,10376603,10358014,10226025,10224060,10217147,10102273,10085094,10082674,9973250,9736715,9512493,9395488,9394803,9368760,9019819,9005852,8524413,7774014,3384441,3037531,1851997,1718748 734544,734543,1358369,1643334,1643330,1643332,1643333,734957,625444,1643331,2290458 207 NM_001014431,NM_001014432,NM_005163,A62733,A63232,AF283830,AL583722,AL590327,CH471061,EU332835,AK094287,AK122894,AK127193,AK131465,BC000479,BC001737,BC063408,BC084538,BX647722,BX648205,CN414251,CR611982,M63167,X61037 NP_001014431,NP_001014432,NP_005154,CAA03677,CAA03712,AAL55732,EAW81881,EAW81882,EAW81883,ABY87524,BAD18610,AAH00479,AAH01737,AAH84538,AAA36539,CAA43372,P31749,Q6ZMW5,Q9BV07 Hs.525622 GDB:118989 AKT|MGC99656|PKB|PKB-ALPHA|PRKBA|RAC|RAC-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 17604271,17510057,17386266,17277771,17081983,16344560,16174443,15489334,15324660,15302935,14973226,14702039,12524439,9373149,12477932,8125298 737633 84335 NM_001098632,NM_001098633,NM_032375,AC118341,CH471177,AK055511,AK092610,AK123687,AK226004,BC000031,BC007416,BC015562,BC016043,BC022241,BC051844,CR595556,CR602166,CR603738,CR604133,CR606632,CR608170,CR608835,CR612202,CR619923,DA005259,DA542314 NP_001092102,NP_001092103,NP_115751,EAW52568,EAW52569,EAW52570,EAW52571,BAB70937,AAH00031,AAH07416,AAH15562,AAH16043,AAH51844,Q96B36 Hs.515542 Lobe|MGC2865|PRAS40 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. 1580863,734545,1601155,734958,632179,2290458,2290476 10490823,1409633,15314020,18316591,18281467,18048359,17914025,17908691,17895832,17825284,17804734,17576055,17482291,17372934,17332325,17327441,17276404,17012749,16982699,16402276,16365168,15987444,15890450,15557754,15531580,15489334,15166380,15144186,15111130,15102693,15070827,15010337,14973226,14735903,14702039,14699494,14654898,14645242,14637151,14612499,14504284,14500673,12808085,12791994,12733712,12697749,12663464,12545160,12524439,12517798,12517337,12482965,12480711,12477932,12434148,12181350,12176337,12167664,12149249,12114503,12048203,11994280,11988487,11948187,11903042,11781143,11707444,11546794,11507039,11500317,11445557,11432835,11313479,11278835,11156964,11139588,10983986,10491192,9736715,9528769,9512493,9394803,9374542,8622988,3037531,1801921,16841089,16524887,10869418,17157319,15689238,11208609,15616007,15678105 734545,1601155,734958,632179,2290458,2290476 208 NM_001626,AC118344,AY708392,CH471126,AK054771,AK055779,AK122839,BC022779,BC032709,BC040028,BC063421,BC120994,BC120995,BQ219902,CR592991,M77198,M95936 NP_001617,AAT97984,EAW56941,EAW56942,EAW56943,AAH22779,AAH32709,AAH63421,AAI20995,AAI20996,AAA36585,AAA58364,P31751,Q05BV0,Q0VAN0,Q6P4H3,Q8TBE2 Hs.631535 GDB:135660 PKBB|PKBBETA|PRKBB|RAC-BETA murine thymoma viral (v-akt) oncogene homolog 2 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. 1580863,2290458 12176997,10092583,17895832,17668379,17178867,16381901,15987444,15698844,15579468,15543611,15489336,15466193,14702039,14637150,12692267,12663464,12477932,12167664,12162751,11994280,11707444,11489829,11466625,11387345,11322783,11230166,11156964,11076863,10773662,10491192,10419456,10208883,9512493,9394803,9305920,16841089,16524887,10869418,17157319,15689238,11208609,15616007 2290458 10000 NM_181690,NM_005465,AC096539,AL591721,AL592151,AL662889,CH471148,AF085234,AF124141,AF135794,AJ245709,AK055109,AL117525,AW960221,AY005799,BC020479,BC121154,BG702262 NP_859029,NP_005456,EAW77093,EAW77094,AAL40392,AAD29089,AAD24196,CAB53537,CAB55977,AAF91073,AAH20479,AAI21155,Q0JUT4,Q56A86,Q9Y243,CAL37669,CAL37727 Hs.498292 GDB:9954867 DKFZP434N0250|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2 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. 14749367,17353931,16189514,16169070,15489334,14702039,12477932,9501314,9383278,9373149,8626685,8125298 64400 NM_001012398,NM_022476,AC007342,CH471092,AK023320,AK098222,AK222743,AL133106,BC001134,BC095401,BG568989,BI545474,CR457308,CR602186,CR620376 NP_001012398,NP_071921,EAW82803,EAW82804,EAW82805,EAW82806,EAW82807,EAW82808,EAW82809,BAB14524,BAD96463,CAH56392,AAH01134,AAH95401,CAG33589,Q503B1,Q53H38,Q659E0,Q9H8T0 Hs.380897 GDB:11500769 FT1|FTS fused toes homolog (mouse) 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. 1599013,1599014,1599011,1601156,1580863,1578396 3463993,3758678,11032836,18432999,18282196,17966070,17823382,17649958,17383846,17366816,17291479,17164378,16757504,16730797,16497859,16487505,16445899,16377642,16344560,16263504,16203232,16140629,15954127,15587989,15489334,15386154,15381398,15258767,15213514,15164053,15064157,14694653,14527840,12972060,12896855,12878157,12665801,12611663,12477932,12469218,11909869,11860952,11800328,11591653,11459423,11444968,11427399,11413692,11335187,10706561,10519994,8188255,7450139,6839527,15915653,6378062,3327436,3092810,3036687,2063868,1716854,1678509,1602151,1569184,1156566 1599013,1599014,1599011,1601156 210 NM_001003945,NM_000031,AL137066,AY319481,CH471090,X64467,AA593706,AK131490,AK290490,AU279870,BC000977,BU625796,BX494400,DA412142,DA805310,M13928,S99468,S99471 NP_001003945,NP_000022,CAH70099,AAP72012,EAW87379,EAW87380,CAA45796,BAD18635,BAF83179,AAH00977,AAA51687,AAC60581,AAC60582,P13716,Q6ZMU0 Hs.1227 GDB:119665 ALADH|MGC5057|PBGS protein-coding 68572 ALAS1 aminolevulinate, delta-, synthase 1 1580863,1601233,1300048,1578396 2347585,17672918,17628775,16730941,15797241,15710391,15547665,15489334,15477213,15123725,12878157,12477932,12433930,11929048,11929042,11566198,11267664,8424176,7698013,3671094,2263504,2095458 1601233 211 NM_199166,NM_000688,AC097637,CH471055,AB063322,AU279391,AY260745,BC011798,BM546974,BU173391,CD014147,CR590706,CR596499,CR606089,X56351,Y00451 NP_954635,NP_000679,EAW65188,EAW65189,EAW65190,BAB93514,AAP94018,AAH11798,CAA39794,CAA68506,P13196,Q5JAM2 Hs.476308 GDB:120543 ALAS|ALAS3|ALASH|MIG4 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. 1599037,1599038,1580863,1300048,1578396 14643893,10727444,16234850,2050125,16446107,16121195,15772651,15166166,12663458,12477932,12393718,12031592,10577279,10029606,9858242,9642238,8107717,2347585,2263504,1939222,1577484,1570328,16189514 1599037,1599038 212 NM_001037969,NM_001037967,NM_000032,NM_001037968,AF068624,AL020991,AY190322,AY532069,AY532070,AY532071,AY532072,AY532073,AY532074,AY532075,AY532076,AY532077,AY532078,AY532079,AY532080,AY532081,AY532082,AY532083,AY532084,AY532085,AY532086,AY532107,AY532108,AY532109,CH471154,Z83821,AK290565,AK291589,BC030230,CR591435,CR593743,CR606333,CR606670,CR608649,CR609889,CR613185,CR615092,AY532087,AY532088,AY532089,AY532091,AY532092,AY532093,AY532094,AY532095,AY532096,AY532097,AY532098,AY532099,AY532100,AY532101,AY532102,AY532103,AY532104,AY532105,AY532106,CR620984,CR626361,X56352,X60364 NP_001033058,NP_001033056,NP_000023,NP_001033057,AAC39838,CAA15886,CAI43125,AAO37821,AAT09371,AAT09372,AAT09373,AAT09374,AAT09375,AAT09376,AAT09377,AAT09378,AAT09379,AAT09380,AAT09381,AAT09382,AAT09383,AAT09384,AAT09385,AAT09386,AAT09387,AAT09409,AAT09410,AAT09411,EAW93211,EAW93212,EAW93213,BAF83254,BAF84278,AAH30230,AAT09408,AAT09388,AAT09389,AAT09390,AAT09391,AAT09393,AAT09394,AAT09395,AAT09396,AAT09397,AAT09398,AAT09399,AAT09400,AAT09401,AAT09402,AAT09403,AAT09404,AAT09405,AAT09406,AAT09407,CAA39795,CAA42916,P22557,Q5JZF5,Q6QNT2,Q86YM3,Q8N6H3,Q9H366 Hs.522666 GDB:119666 ANH1|ASB|XLSA aminolevulinic acid 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. 1599027,1599028,734959,1599033,1580863,1601159,1601157,1601160,1601158 16405401,14726550,16169013,16307046,16413734,16413740,10940303,16289007,16413837,9731778,16283771,16099937,16201370,16245148,16394536,16153637,12617161,6457647,7557095,8132774,11159893,14718574,18200583,18200582,18192916,18178096,18068661,18029235,18028874,17987802,17940721,17603933,17587712,17575979,17499233,17467280,17438360,17347578,17200780,17184834,17109502,17067818,17054386,17048876,17048273,17002873,16979183,16939204,16916777,16892178,16843720,16721655,16705651,16703327,16608438,16536861,16454580,16344560,16337614,16324740,16253963,16213467,16159939,16156788,16054887,16037246,15996651,15952740,15942949,15913893,15890566,15837789,15832324,15740590,15716124,15646839,15489334,15353599,15324660,15210122,15149953,15137089,14983239,14759223,14687905,14520007,13677478,12975309,12970360,12969171,12815038,12732844,12665801,12566415,12480711,12477932,12118010,12009306,17064838,2762316,2727704,2564675,2460858,2437111,2419329,2404284,2374930,2339130,2247440,2104980,2068071,1946412,1859851,1819460,1630489,1602151,1518850,1390939,1347703,1225573,955075,683332,656055,571335,325004,8312056,7576927,1810199,12007569,10580404,11906609,11847277,11810025,11781148,11743713,11743520,11734007,11689002,11680902,11483580,11168369,11158855,11145723,11140838,10811843,10780709,10388840,9618718,9589637,9329347,9183005,8898021,8513793,8347685,8134387,8064810,8063017,8048949,8022807,7902134,7895732,7882997,7852505,7578225,7297678,6933567,6864486,6324579,6292049,6275391,6192711,6173750,6171778,4062880,4027254,3828358,3795040,3759977,3479777,3474609,3353369,3087352,3081519,3009475,2914956,2911589,2901102,2898383,2792379,11931649,10086322,8605586,9168236,15502818,15616580 1599027,1599028,734959,1599033,1601159,1601157,1601160,1601158 213 EF649953,M12523,M13075,NM_000477,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,CR596914,CR597043,CR597211,CR597943,CR598093,CR598383,CR598385,CR598603,CR599168,CR599458,CR599721,CR600034,CR600037,CR600791,CR601390,CR601415,CR601553,BC036003,AC108157,CH471057,S70799,AF116645,AF130077,AF190168,AF542069,AK292755,AY358313,AY544124,AY550967,AY728024,AY960291,BC014308,BC034023,BC034026,BC035969,S69192,CR602440,CR602816,CR603329,CR603331,CR603379,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,CR621584,CR621629,CR622690,CR622692,CR623499,CR623708,CR624078,CR624084,CR624085,CR624270,CR624330,CR624773,CR624987,CR625370,CR625426,CR625546,CR626041,CR626274,CR626607,CR626733,CR626747,CR749331,DA536463,DQ986150,V00494,V00495,CR621037,CR620357,CR620627,CR621036,A06977 EAX05671,EAX05672,EAX05673,EAX05674,EAX05675,EAX05676,EAX05677,EAX05678,ABS29264,AAA98797,AAA98798,AAA51688,AAH36003,AAH41789,NP_000468,EAX05659,EAX05660,EAX05661,EAX05662,EAX05663,EAX05664,EAX05665,EAX05666,EAX05667,EAX05668,EAX05669,EAX05670,AAB30282,AAB31177,AAF71067,AAG35503,AAF01333,AAN17825,BAF85444,AAQ89947,AAT11155,AAT52213,AAU21642,AAX63425,AAH14308,AAH34023,AAH35969,CAH18185,ABJ16448,CAA23753,CAA23754,P02768,Q16167,Q56G89,Q5D0D7,Q8IUK7,CAA00606,ABM82340,ABM85514 Hs.418167 GDB:118990 DKFZp779N1935|PRO0883|PRO0903|PRO1341 protein-coding 733283 ALCAM activated leukocyte cell adhesion molecule 1580863,734960 7760007,18347173,18279810,18202807,18171982,18157132,17971418,17624664,16865058,16818773,16818742,16650408,16335952,16204050,16024937,15496415,15169840,15140234,14702039,12843199,12754519,12481253,12477932,11306570,10673383,9920831,9502422,9436462,8823162,8520490,7543097 734960 214 NM_001627,AC023602,AC078806,AC133476,CH471052,AB074167,AK054632,AK095833,AK127617,AL833702,AY644765,BC029639,BC041127,BC057809,CB145726,DQ486139,DQ486140,L38608,Y10183 NP_001618,EAW79755,EAW79756,EAW79757,BAC87059,AAV28819,AAH57809,ABF48405,ABF48406,AAB59499,Q13740,Q6PEY4,Q6ZS95,CAA71256 Hs.591293 GDB:5659998 CD166|FLJ38514|MEMD|MGC71733 protein-coding 1350465 ALDH16A1 aldehyde dehydrogenase 16 family, member A1 1580863 17353931,14702039,12477932,9110174,8619474 126133 NM_153329,AC010619,CH471177,AK024182,AK074136,AY007096,BC014895,BC035641,BC042142,CR602601,CR608888 NP_699160,EAW52482,EAW52483,EAW52484,BAB84962,AAH14895,AAH35641,AAH42142,Q8IZ83 Hs.355398 MGC10204 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. 1580863 8761662,15517380,15489334,15164054,12477932,11092761,10037775,9373149,8921385,8125298 5832 NM_002860,NM_001017423,AL356632,CH471066,AK126355,AK225455,AK225465,AK226032,AW467503,BC106054,BC117240,BC117242,BU170321,CD642171,CR604316,U68758,U76542,X94453 NP_002851,NP_001017423,CAI16765,CAI16766,EAW49994,EAW49995,EAW49996,EAW49997,BAC86534,AAI06055,AAI17241,AAI17243,AAD00169,AAD17454,CAA64224,P54886,Q3KQU2,Q5T567,Q6ZTQ0 Hs.500645 GSAS|MGC117316|P5CS|PYCS 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. 1580863,1300048 1709013,224930,2987944,18331377,18082256,17628022,17502835,17286337,17222227,17175089,16878979,16857736,16189514,15597079,15489334,14678778,14506398,12477932,12174908,12081471,9723161,9240474,9166904,8493914,8214422,6723659,6427007,4015823,3676276,3397064,3013004,2776714,2591967,730161 216 NM_000689,AL591031,AY338497,CH471089,M31994,S61235,AB209821,AF003341,AK000118,AK026641,AY390731,BC001505,BG773210,BT006921,CR601139,K03000,M26761 NP_000680,CAI12257,CAI12259,CAI12260,CAI12261,AAP88039,EAW62543,EAW62544,AAA51692,AAD13925,BAD93058,AAC51652,AAR92229,AAH01505,AAP35567,AAA51695,AAA35518,P00352,Q59EJ0,Q5SYQ7,Q5SYQ8,Q5SYQ9,ABM81595,ABM84776,Q5SYR1 Hs.76392 GDB:119667 ALDC|ALDH-E1|ALDH1|ALDH11|MGC2318|PUMB1|RALDH1 aldehyde dehydrogenase family 1, member a1 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. 734550,1580863,734961,734962,1576367,1300048 8797830,16368932,16237707,15489334,14718574,14702039,12477932,11953746,10192400,9819382,8663198 734550,734961,734962,1576367 8854 NM_170696,NM_003888,NM_170697,AB015229,AC012653,AC025431,CH471082,DQ322171,AB015226,AB015227,AB015228,AK128709,AL110274,AL110299,AL137418,BC030589,BI459110,CR601540 NP_733797,NP_003879,NP_733798,BAA34788,EAW77528,EAW77529,EAW77530,ABC40749,BAA34785,BAA34786,BAA34787,CAB53740,AAH30589,O94788,Q9UED3,ABM82494,ABM85686 Hs.708331 GDB:9957422 MGC26444|RALDH(II)|RALDH2|RALDH2-T aldehyde dehydrogenase family 1, subfamily a2 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. 1580863 7698756,15489334,12477932,12040753,11585737,9490025 220 NM_000693,AC015712,CH471101,AL110109,BC009245,BC069274,BX538027,DB480234,U07919 NP_000684,EAX02281,EAX02282,EAX02283,AAH09245,AAH69274,CAD97973,AAA79036,P47895,Q7Z3A2,Q96GT2 Hs.459538 GDB:364103 ALDH1A6|ALDH6|RALDH3 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. 1580863 1306115,17628022,17471563,15489334,15164053,12477932,9373149,8689400,8244338,8125298,7779080,7774944,2061311 219 NM_000692,AL135785,CH471071,M63967,BE889810,BT007418,AK225950,BC001619 NP_000683,CAD13246,EAW58252,AAH01619,AAP36086,P30837,ABM81675,ABW03290,AAA96830 Hs.436219 GDB:128788 ALDH5|ALDHX|MGC2230 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. 10204077,17891500,17548676,17119116,12805405,12477932,12065246,9373149,8125298,7972060,2733692 10840 AA639766,AB209299,AF052732,AK124908,AK222535,AK222694,AL133015,BC027241,BC045645,BI829048,CR749807,NM_012190,AC079848,CH471052 BAD92536,AAC35000,BAC85992,BAD96255,BAD96414,CAB61356,AAH27241,AAH45645,CAH18667,O75891,Q49A47,Q53H87,Q53HP5,Q59G10,Q6ZV71,Q8TBP8,Q9UFA9,NP_036322,EAW79370,EAW79371,EAW79372 Hs.434435 GDB:9958400 DKFZp781N0997|FTHFD protein-coding 1345617 ALDH1L2 aldehyde dehydrogenase 1 family, member L2 1580863 14702039,12477932 160428 NM_001034173,AC016257,AC090051,AF086109,AK095827,BC103934,BC103935,CR590204,CR627287,CR749561 NP_001029345,BAC04634,AAI03935,AAI03936,CAH10368,CAH18358,Q3SY69 Hs.42572 DKFZp686A16126|DKFZp686M064|FLJ38508|MGC119536|MGC119537 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. 734551,1599041,1599042,1331525,1300048,1601161,1601162,1601164,1601163,1580863 1306115,8903321,18439068,18429959,18336671,18331377,18322963,18318597,18317873,18302046,18299763,18258609,18254707,18216179,18215653,18201725,18078815,18056758,18033686,17984618,17963305,17952709,17948892,17885622,17854793,17850643,17785925,17659824,17632320,17631643,17559142,17543846,17517051,17489985,17471563,17459359,17454860,17388993,17384900,17292341,17285601,17207821,17196743,17138329,17134659,17071628,17040107,17036331,17033202,16847426,16822169,16792555,16788276,16782756,16759795,16758956,16734278,16702384,16685648,16679777,16679343,16639733,16624836,16608143,16600530,16565959,16520888,16499490,16440362,16440063,16408483,16404797,16385179,16365683,16351505,16332725,16324524,16309369,16250071,16235983,16187278,16163053,16135443,16127737,16126235,16125912,16108833,16103445,16082583,16078602,16046871,16006997,15991278,15983043,15957670,15957669,15902904,15863807,15842823,15840430,16958672,15780035,15734972,15714130,15703303,15679538,15654505,15569633,15563966,15542751,15519646,15511718,15489334,15377279,15327835,15318112,15318097,15318096,15279067,15242332,15220553,15182962,15167446,15126281,15123334,15122947,15084894,15008789,14768474,14742656,14693654,14691372,14652286,14636437,14634838,14597338,14568296,14506613,14506399,12940444,12915519,12915514,12884000,12824748,12806963,12798968,12766630,12759747,12759156,12739102,12718671,12718576,12706324,12706323,12705718,12563175,12554615,12545748,12519453,12517056,12505800,12492137,12484509,12477932,12452318,12419833,12387818,12376487,12351924,12223435,12213289,12211622,12198369,12198368,12189549,12173598,12170102,12168074,12164325,12119207,12089173,12082496,12080432,12033531,12010862,11966948,12777946,11925062,11798074,11767261,11748356,11744614,11696658,11692094,11600186,11584144,11520401,11510748,11468345,11410744,11410735,11375898,11238183,11210104,11117576,11115843,11051375,10631996,9765594,9373149,9309300,8561277,8290656,8125298,7593603,6582480,4065146,4015823,3653404,3610592,3582651,3562250,3017845,2987944,2838413,2562960,16189514 734551,1599041,1599042,1331525,1601161,1601162,1601164,1601163 217 NM_000690,AC002996,AC003029,AF164120,CH471054,M20444,M20456,AK223373,AY621070,BC002967,BC071839,CR456991,CR609508,CR617194,CR618953,CR620819,K03001,M26760,M54931,X05409,Y00109 NP_000681,AAD48447,EAW97973,EAW97974,EAW97975,EAW97976,AAA51693,BAD97093,AAT41621,AAH02967,AAH71839,CAG33272,AAB59500,AAA51694,AAA62825,CAA28990,CAA68290,P05091,Q53FB6,Q9UN17 Hs.632733 GDB:119668 ALDH-E2|ALDHI|ALDM|MGC1806 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 aldehyde substrates. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 1300048,1580863 9027499,8493892,8125298,7774944,7625577,7228061,4073832,2037078,1905102,1306115,16189514,1737758,11256614,15905174,15489334,14745454,14702039,12943535,12706498,12477932,12367788,12081471,10780262,9514081,9373149,9250352 218 NM_000691,AC005722,CH471212,AK091272,AK093755,AK093877,AK225505,AK225513,AK292193,BC004102,BC004370,BC008892,BC021194,BT007102,M74542,M77477,S61044 NP_000682,EAW50908,EAW50909,BAC04239,BAF84882,AAH04102,AAH04370,AAH08892,AAH21194,AAP35766,AAA51696,AAB46377,AAB26658,P30838,Q6PKA6,Q8N9T9,ABM83914 Hs.531682 GDB:118992 ALDH3|ALDHIII|MGC10406 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. 1300048,1580863 18035827,17998529,17971613,17902024,17510064,16996289,16794583,15931689,15489334,15241804,15110319,14702039,12477932,11408337,10792573,10577908,9829906,9467812,9254849,9204959,9070922,9027499,7894487,7485163,8528251 224 NM_000382,NM_001031806,NG_007095,AC005722,AC115989,CH471212,U75286,U75295,U75296,AB208894,AK000858,AK025677,AK123877,AK292381,BC002430,BG699030,CR457422,CR591336,CR749559,L47162,U46689 NP_000373,NP_001026976,EAW50898,EAW50899,EAW50900,AAC50966,AAC50965,BAD92131,BAF85070,AAH02430,CAG33703,CAH18356,AAB01003,AAC51121,P51648,Q59H65,Q68D64,Q6I9T3,ABM86806,ABW03828 Hs.499886 GDB:1316855 ALDH10|DKFZp686E23276|FALDH|FLJ20851|SLS aldehyde dehydrogenase family 3, subfamily a2 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 encodes a single transcript of 2.8 kb which 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. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7828891,17382292,16092759,15489334,12477932,9490025,9161417 221 BC033099,NM_000694,NM_001030010,AC004923,CH471076,AB209651,AK129943,AK291505,BC002553,BC013584,BC014168,BC019911,BM561843,BT009832,EF411198,U10868 NP_000685,NP_001025181,EAW74678,EAW74679,EAW74680,EAW74681,EAW74682,EAW74683,BAD92888,BAF84194,AAH02553,AAH13584,AAH14168,AAH33099,AAP88834,ABN58743,AAA83428,P43353,Q59F10,Q9BUJ8,ABM82378,ABM85557 Hs.523841 GDB:309335 ALDH4|ALDH7|FLJ26433 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. 1580863 8890755,15489334,15342556,14702039,12477932,10737800,9161417,7484374 222 NM_001031615,NM_000695,AP003385,CH471076,AK092464,BC007685,BG009508,BP313753,BT006810 NP_001026786,NP_000686,EAW74665,BAC03897,AAH07685,AAP35456,P48448,Q53Y98,ABM92158,ABM84628 Hs.87539 GDB:1220125 ALDH8 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. Two transcript variants encoding the same protein have been identified for this gene. 1580863 8621661,16710414,15489334,14986171,12477932,9700195,9373149,8125298,4851275,1286669,500817,14679154 8659 NM_003748,NM_170726,AL080251,AL954340,BX537160,CH471134,AK222486,AK289972,BC007581,BC023600,BM856369,U24266,U24267 NP_003739,NP_733844,CAI23417,CAI23418,CAI39492,CAI39493,CAI39494,EAW94858,EAW94859,EAW94860,BAD96206,BAF82661,AAH07581,AAH23600,AAC50500,AAC50501,P30038,Q53HU4,Q5JNV6,Q5TF55,ABM84431,ABM87488 Hs.77448 GDB:9958827 ALDH4|P5CD|P5CDh|P5CDhL|P5CDhS protein-coding 735245 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) 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. 632258,1580863 16199352,9683595,7814412,15037717,17913586,17457693,16786440,16406321,15642443,15489334,14981524,14635103,14574404,12629812,12477932,12208142,11901270,11243727,9059628,6470007 632258 7915 NM_170740,NM_001080,AL031230,CH471087,X92753,AJ427353,AJ427354,AJ427355,AK025722,AK290800,BC034321,L34820,Y11192 NP_733936,NP_001071,CAA20248,EAW55452,EAW55453,EAW55454,CAD20882,CAD20883,CAD20884,BAF83489,AAH34321,AAA67057,CAA72076,P51649,Q546H9,Q8N3W6,Q8N3W7,ABM82597,ABM85783 Hs.371723 GDB:454767 SSADH|SSDH aldehyde dehydrogenase family 5, subfamily a1 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. 633220,1580863 1527093,15909363,15489334,14718574,12477932,10947204,9373149,8125298 633220 4329 NM_005589,AC005484,AF148855,CH471061,AF038011,AF148505,AF159889,AJ249994,AK222687,AK223244,AW418653,BC004909,BC032371,CR613362,M93405 NP_005580,AAG29581,EAW81158,EAW81159,EAW81160,AAB92620,AAF04489,AAF80380,CAB76468,BAD96407,BAD96964,AAH04909,AAH32371,AAA36328,O43573,Q02252,Q53FN8,Q53H94,ABM83847,ABM84606,ABW03530 Hs.293970 GDB:135473 MGC40271|MMSADHA|MMSDH 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. 1580863 9417906,17721876,17433748,17088338,17068770,16491085,16344560,16159904,15489334,14702039,12766061,12477932,10978228,8088832 501 NM_001182,AC093535,AC099513,AF002696,CH471086,AK021800,AK092507,AK312459,AU135961,BC002515,BC071712,BC073174,CD678674,CR592154,CR595547,CR597044,CR597705,CR598983,CR599362,CR599602,CR602857,CR608879,CR609868,CR610995,CR611205,CR616518,CR617093,CR622161,DC375277,S74728 NP_001173,AAC51935,EAW48851,BAG35366,AAH02515,AAH71712,AAH73174,AAB31966,P49419 Hs.483239,Hs.696286 GDB:698354 ATQ1|EPD|FLJ11738|FLJ92814|PDE protein-coding 1352783 ALDH7A1P1 aldehyde dehydrogenase 7 family, member A1 pseudogene 1 16004729,9417906 541 NG_001082,AC022414,AF002693 GDB:6089500 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. 1580863 11007799,12477932,9373149,8125298 64577 NM_170771,NM_022568,AL021939,AL445190,CH471051,AF303134,AK074266,AK222848,AK290784,BC020849,BC113862,BC114473,BX647324 NP_739577,NP_072090,CAI20305,CAI20306,CAI95158,CAI95159,EAW47985,EAW47986,AAG42417,BAD96568,BAF83473,AAI13863,AAI14474,Q9H2A2 Hs.486520 GDB:11499741 ALDH12|DJ352A20.2|DKFZp779D2315|MGC138650 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. 1300048,1580863 2925663,8645224,18334916,16710414,12477932,11790142,10702312,9417993,8786138,8269919,8112751 223 NM_000696,AL451074,CH471067,AF172093,BC011410,BC070030,CR615650,CR625299,U34252,U50203,X75425 NP_000687,CAH74061,EAW90758,AAF43600,AAB18827,AAB06721,CAA53176,P49189,Q6NSM2 Hs.2533 GDB:1220126 ALDH4|ALDH7|ALDH9|E3|TMABADH 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. 1599054,1599061,1300048,1580863 2825199,15231747,8598869,18328256,17081983,16916647,16344560,16289162,16236267,16097034,15952740,15592455,15489334,14766013,14760703,14669989,12665801,12477932,11876650,11399750,11287212,10369770,10048322,8103323,7821789,6696436,6406231,3840020,3674018,3570299,3441006,3391172,3355497,3046960,3030757,2335208,2229018,2065091,2056525,1999195,1602151,1353685,955981,844801,766744,14499622 1599054,1599061 226 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,NM_000034,NM_184043,NM_184041,AC093512,CH471238,X06352,X12447,AK026577,AK098778,BC000367,BC004333,BC010660,BC012880,BC013614,BC015888,BC016170,BC016800,CR601483,CR601868,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,CR600497,CR615901,CR616711,CR617387,CR618398,CR619926,CR620269,CR620329,CR620452,CR620834,CR620913,CR621054,CR621249,CR622016,CR622195,CR622303,CR622309,CR622931,CR623675,CR624362,CR624465,CR624525,CR625362,CR625748,D28356,DA893541,EF036496,EF036497,M11560,M21190,X05236 CAG38765,CAG46678,NP_000025,NP_908932,NP_908930,EAW79933,EAW79934,EAW79935,EAW79936,CAA29654,CAA30979,AAH00367,AAH04333,AAH10660,AAH12880,AAH13614,AAH15888,AAH16170,AAH16800,BAA05722,ABO65082,ABO65083,AAA51690,AAA51697,CAA28861,P04075,Q6FI10,Q9UCN2,ABM81991,ABM85172 Hs.513490 GDB:118993 ALDA|MGC10942|MGC17716|MGC17767 aldolase a protein-coding 1343752 ALDOAP1 aldolase A, fructose-bisphosphate pseudogene 1 3674018 391538 NG_004867,AC006252,AC097637 GDB:118994 pseudo 1345484 ALDOAP2 aldolase A, fructose-bisphosphate pseudogene 2 3674018 228 NG_005637,AL158835,M21191 Hs.652473 GDB:118995 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. 1300369,1599063,1580863 3383242,17955389,17576770,17457694,17292585,16406649,15880727,15532022,15063762,14966907,12477932,12464284,12417303,12205126,11752456,11679716,11399750,11241348,10970798,10024431,9244396,8535439,8299883,8162030,7717389,6689266,6585824,6548561,3016456,3000275,2830249,2649152,2410860,2336380,1967768 1300369,1599063 229 NM_000035,AL353621,CH471105,D00183,M15656,AK026411,AK290795,AV645373,AV656265,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,Q5T7D6,Q8NHT3 Hs.530274 GDB:119669 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. 734555,1300048,1580863 3105602,16916647,15589842,15537755,15489334,12477932,11876650,9110174,8619474,5230152,3674018,3267224,2731939,2209624 734555 230 NM_005165,AC005726,CH471159,X05196,X07292,AF054987,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 NP_005156,EAW51104,EAW51105,CAA28825,CAA30270,AAC09348,AAH03613,AAH65565,AAI03761,AAI06926,AAI06927,AAP35652,CAG46660,CAG46679,P09972 Hs.155247 GDB:119670 ALDC aldolase c, fructose-biphosphate protein-coding 1343915 ALDRL2 aldehyde reductase (aldose reductase)-like 2 8244370 233 GDB:131722 1344311 ALFN1 activator of liver function 1 (hepatic phenotype restoration inducing sequence) 7940018 237 X15584 GDB:433638 1321758 ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase) The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. Mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.[supplied by OMIM] 10704531,16303743,15489334,14973782,14973778,14709599,12975309,12477932 56052 NM_019109,AC026458,CH471112,CS051167,AB019038,AK075373,AY359073,BC004402,BC031095,BC031873,BM767933,BQ002699,CA455103,CD366777,CR592042,CR597195,CR619322,CR624559 NP_061982,EAW85240,EAW85241,CAI72079,BAA90748,BAC11576,AAQ89432,AAH04402,AAH31095,Q9BT22,ABM85936,ABW03760 Hs.592086 HMAT1|HMT-1|HMT1 asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) protein-coding 1345350 ALG10 asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase) 15489334,14702039,14525949,12477932,12200473,9722534,9597543 84920 NM_032834,AC046130,CH471116,AJ312278,AK027657,AK292488,BC022336,BC033730,BC070347,BC075807,BC090948,CR600259,CR623610,W05355 NP_116223,EAW88508,CAC41349,BAB55272,BAF85177,AAH70347,AAH90948,Q5BKT4,ABM82982,ABM86176 Hs.102971 FLJ14751|KCR1 protein-coding 1344377 ALG10B asparagine-linked glycosylation 10 homolog B (yeast, alpha-1,2-glucosyltransferase) 16344560,15280551,14702039,14525949 144245 AC117372,CH471111,AK123102,AY845858,BQ024224,DB224774,DB254106,NM_001013620 NP_001013642,EAW57795,AAW31756,Q5I7T1 Hs.259305 ALG10|KCR1 protein-coding 1604899 ALG11 asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase) 17353931,16354793,12477932 440138 NM_001004127,AL139082,AK025456,AK128503,BC010857,BC073862,BC111022,BC142998,CR602797 NP_001004127,CAI12889,CAI12890,BAC87472,AAH10857,AAH73862,AAI11023,AAI42999,Q2TAA5,Q6ZR45,AAI43060,AAI50317 Hs.512963 GT8|KIAA0266|UTP14C protein-coding 1312492 ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase) This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. 12217961,15498874,15489334,15461802,15273506,15272470,12736397,12477932,12093361,11983712,10591208 79087 NM_024105,AL671710,CH471138,AF258571,AF318343,AJ290427,AJ303120,BC001729,BC098562,BM145575,CB858085,CR456369 NP_077010,CAO72064,EAW73480,EAW73481,EAW73482,AAG23774,AAL55850,CAC83681,CAC67488,AAH01729,AAH98562,CAG30255,Q4KMH4,Q8WY77,Q9BV10,CAK54650,CAK54949,ABM83756,ABM87075 Hs.526711 ECM39|MGC111358|MGC3136|PP14673|hALG12 asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase) 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 199857 NM_144988,AC095033,AC105942,BX322578,CH471097,AK289395,BC011706 NP_659425,EAW73026,EAW73027,BAF82084,AAH11706,Q96F25 Hs.408927 MGC19780 protein-coding 1320554 ALG2 asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). 12684507,14999017,11883939,12445460,16957052,17045351,17196169,11278427,16996505,17889823,16344560,16303743,15489334,15273506,15272470,15164053,14702039,12975309,12477932,16004603,12804766 85365 NM_033087,AL137067,CH471105,CQ782967,CQ783609,AA017454,AB161356,AK027417,AK027814,AK074704,AK074988,AK075172,AK075189,AY358697,BC015126,BC017876,DB019023 NP_149078,CAC07999,EAW58908,EAW58909,EAW58910,EAW58911,CAF86196,CAF86774,BAD11905,BAB55099,BAC11150,BAC11337,BAC11449,BAC11459,AAQ89060,AAH17876,Q8NBW5,Q9H553,ABM82915,ABM86105 Hs.40919 CDGIi|FLJ14511|hALPG2 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) protein-coding 1314369 ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. 1580863 10581255,16006436,15489334,15273506,15272470,15108280,12477932,8552211,1058125 10195 NM_005787,AC061705,CH471052,AK289361,AW297350,BC002839,BC004313,BC021062,CR592328,CR593059,CR594345,CR596636,CR601384,CR603692,CR603947,CR611890,CR616285,CR619480,CR620598,CR620912,Y09022 NP_005778,EAW78282,EAW78283,BAF82050,AAH02839,AAH04313,CAA70220,Q92685,ABM84086,ABM87455 Hs.478481 CDGS4|D16Ertd36e|NOT56L|Not56 asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase) protein-coding 1318934 ALG5 asparagine-linked glycosylation 5 homolog (S. cerevisiae, dolichyl-phosphate beta-glucosyltransferase) This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. 1580863 10359825,15489334,12477932,11042152,8889548 29880 NM_013338,AL138706,CH471075,AF088028,AF102850,AF161498,AF183413,AI027225,BC012531,BF668393,BG482604,BU739112,CB988638,CR625593 NP_037470,CAI14011,EAX08577,EAX08578,AAD41465,AAF29113,AAG09682,AAH12531,Q5TBA6,Q9HC03,Q9Y673 Hs.507769 RP11-421P11.2|bA421P11.2 protein-coding 1318803 ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. 1580863 10359825,11106564,16710414,16321363,15489334,14702039,14517965,12878157,12477932,12357336,12200473,11875054,11558905,11134235,10924277,10914684,9789065,9710431 29929 NM_013339,AL049636,AL592218,CH471059,AF063604,AF102851,AI479334,AK022700,AU280221,BC001253,CB215801,CR602025,CR618543 NP_037471,CAI22829,EAX06571,EAX06572,EAX06573,EAX06574,AAG43163,AAD41466,AAH01253,Q9Y672 Hs.657855 asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase) protein-coding 1313512 ALG8 asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 12480927,16344560,16303743,15489334,15273506,15272470,15235028,14702039,12477932,12200473,11124703,7566098 79053 NM_024079,NM_001007027,AP002520,CH471076,AA375954,AJ224875,AK075184,AK075194,AK098614,AK125912,BC001133,BC017892,CR595136,CR599637,CR607665,CR618228,CR620133,CR621003,CR623474,DB362104 NP_076984,NP_001007028,EAW75048,EAW75049,EAW75050,EAW75051,CAA12176,AAH01133,Q9BVK2 Hs.503368 MGC2840 asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase) protein-coding 1342764 ALG9 asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) 1580863 16859551,16381901,16344560,15945070,15489336,15489334,15148656,14702039,14519663,12546819,12477932,12030331,11230166,11076863,9373149,8125298,16189514 79796 NM_024740,NM_001077690,NM_001077691,NM_001077692,AP001781,CH471065,AB096249,AF395532,AF454937,AK025498,AK172828,AK225261,AL136927,BC009255,CR605278,DA257621 NP_079016,NP_001071158,NP_001071159,NP_001071160,EAW67152,EAW67153,EAW67154,EAW67155,EAW67157,EAW67158,EAW67159,AAL25798,AAP97696,BAB15154,BAD18793,CAB66861,AAH09255,Q0JTV6,Q9H6U8,CAL37889,CAL38056,ABM83687,ABM86990 Hs.503850 DIBD1|DKFZp586M2420|FLJ21845|LOH11CR1J asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase) 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. 1600902,1580863 9053841,9174053,11121404,18320074,18166835,18165268,18097461,18070884,17998938,17922009,17904822,17690253,17681947,17537995,17490616,17274988,17077326,17071493,16880530,16878150,16835382,16825495,16766651,16709933,16651537,16623783,16604305,16565220,16254137,16161041,16153455,15938644,15933425,15928040,15886198,15713979,15592455,15583856,15226403,15161657,15004538,14962911,14656879,14563642,12800156,12763927,12213716,12185581,12122009,12115586,12112524,12036886,11943732,11888936,11877285,11850821,11809760,11387242,11278720,10556217,9819383,9490693,8633037,8122112 1600902 238 NM_004304,AC074096,AC093756,AC098874,AC106870,AC106899,CH471053,AB209477,AF125093,D45915,U04946,U62540,U66559 NP_004295,AAY15027,AAX88892,AAX76514,AAX93126,EAX00506,EAX00507,EAX00508,BAD92714,AAF42734,BAA08343,AAA58698,AAB71619,AAC51104,Q580I3,Q9UM73,AAI56208,AAI57091 Hs.654469 GDB:209935 CD246|Ki-1|TFG/ALK 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. 1580863 8600462,15489334,12594517,12508121,12477932 8846 NM_006020,AC008044,CH471061,BC015024,BC025787,BX537699,CR604550,X91992 NP_006011,AAF01478,EAW81300,EAW81301,EAW81302,AAH15024,AAH25787,CAA63047,Q13686,Q5XKL0,ABM92160,ABM84629 Hs.94542 ABH|ABH1|ALKBH|alkB|hABH alkb, alkylation repair homolog (e. coli) 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] 12486230,18270339,16642038,16174769,15489334,12594517,12477932 121642 NM_001001655,NG_007284,AC011596,CH471054,CQ786763,AB277859,AY754389,BC070489,CR597009,CR601252,CR623288 NP_001001655,EAW97845,CAG17897,BAF56576,AAV28301,AAH70489,Q6NS38 Hs.374458 ABH2|MGC90512|hABH2 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] 12486230,16858410,16642038,16174769,15489334,12594517,12477932 221120 NM_139178,AC087521,CH471064,CQ786761,DQ196343,AB042029,BC015155,BC067257,BC103812,BC103813,BC103814,CR602476,CR612017,CR615997,CR621454,CR623815 NP_631917,EAW68078,EAW68079,CAG17896,ABA27096,BAB70508,AAH15155,AAH67257,AAI03813,AAI03814,AAI03815,Q96Q83 Hs.368920 ABH3|DEPC-1|DEPC1|MGC118790|MGC118792|MGC118793|PCA1 protein-coding 1603303 ALKBH4 alkB, alkylation repair homolog 4 (E. coli) 15489334,14702039,12477932,9373149 54784 NM_017621,AC093668,CH471197,CS300642,AK000020,AK026097,AK222689,BC002820,BC017096 NP_060091,EAW50249,CAK32306,BAA90888,BAB15358,BAD96409,AAH02820,AAH17096,Q9NXW9 Hs.663744 FLJ20013 protein-coding 1603209 ALKBH5 alkB, alkylation repair homolog 5 (E. coli) 15489334,14702039,12477932,11997338,8889548 54890 NM_017758,AC087164,AC109515,CH471196,AK000129,AK000315,AK025817,AL137263,BC062339,BI823385,BU740432 NP_060228,EAW55661,EAW55662,BAA91078,AAH62339,Q6P6C2 Hs.462392 FLJ20308|OFOXD|OFOXD1 protein-coding 1605913 ALKBH6 alkB, alkylation repair homolog 6 (E. coli) 12477932,8889548 84964 NM_032878,NM_198867,AC002116,AB273714,BC007601,BC036061,BC105801,BM713594,BU963363,CR596548,CR604192 NP_116267,NP_942567,BAF63844,AAI05802,Q3KRA9 Hs.71941 MGC15677 protein-coding 1352016 ALKBH7 alkB, alkylation repair homolog 7 (E. coli) 737633 15489334,12975309,12477932,9373149,8125298 737633 84266 AY358858,AY427650,BC004393,NM_032306,AC011491,CH471139,AK223336 AAQ89217,AAR24624,AAH04393,Q9BT30,BAD97056,NP_115682,EAW69102 Hs.111099 MGC10974|SPATA11|UNQ6002 protein-coding 1602194 ALKBH8 alkB, alkylation repair homolog 8 (E. coli) 14702039,12477932 91801 NM_138775,AP001823,CH471065,AF086489,AK095523,BC015183,BX649085 NP_620130,EAW67088,EAW67089,EAW67090,BAC04566,AAH15183,Q96BT7 Hs.503763 FLJ38204|MGC10235 protein-coding 736731 ALLC allantoicase 1580863 16344560,15815621,15489334,12477932,12036579,11054555 55821 NM_018436,AC010907,CH471053,AF215924,AF395820,BC029652,BC035356,DB054905 NP_060906,AAY24236,EAX01050,EAX01051,AAF67097,AAK72970,AAH29652,AAH35356,Q8N6M5 Hs.97899 GDB:11505611 ALC protein-coding 1323128 ALMS1 Alstrom syndrome 1 1601169,1580863,1576431 15855349,17594715,16601972,15815621,15489334,14654843,14646408,12827243,12477932,12168954,11941370,11941369,10598815,9205841,9063741,12421765 1601169,1576431 7840 NM_015120,AC074008,AC092653,AC096546,CH471053,AB002326,AJ417593,AL832273,AL833495,BC035025,BC050330,BX647706,BX648632 NP_055935,AAY24208,AAX82023,EAW99728,EAW99729,EAW99730,EAW99731,BAA20786,CAD10391,AAH35025,AAH50330,Q8TCU4 Hs.184720 GDB:9865539 ALSS|DKFZp686A118|DKFZp686D1828|KIAA0328 protein-coding 1606431 ALMS1P Alstrom syndrome 1 pseudogene 16344560,12477932 200420 NR_003683,AC092653,CH471053,BC014492,DA427693 EAW99725,EAW99726,AAH14492,Q96L16,ABM83977,ABM87298 Hs.278983 ALMS1L pseudo 1322469 ALOX12 arachidonate 12-lipoxygenase 1578303,1580863,1578309,1578308 16482570,16118214,15797645,15729574,15489334,15308583,15142951,14532840,12907138,12731864,12664578,12664573,12664313,12538614,12477932,12394183,11914583,10760478,10446449,9082968,8912711,8641843,8304420,7868854,3926763,3406043,2244907,1570320,1447217,2217179,2377602,10727209,15105833,15305153,14669797,15111312,12858336,14767568,15010818,15107407,18187376,17893696,17520163,17460548,17379189,17236225,17192687,17151091,17045234,16788089,16638750,16598376,16514435 1578303,1578309,1578308 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 GDB:127547 12-LOX|12S-LOX|LOG12 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. 1580863,1578309 9618483,18347291,17436029,17139268,15629692,15489334,14702039,12664578,12477932,11773004,11368351,11350124,10727209,9837935 1578309 242 NM_001139,NG_007099,AC129492,AJ305026,AJ305027,CH471108,AF038461,AF059250,BC041058 NP_001130,CAC34520,EAW90095,AAC39770,AAC79680,AAH41058,O75342 Hs.136574 GDB:9862758 12R-LOX protein-coding 1606590 ALOX12P1 arachidonate 12-lipoxygenase pseudogene 1 1570320 243 NG_000844,AC005562,AC011840 GDB:132452 ALOX12P pseudo 1354244 ALOX12P2 arachidonate 12-lipoxygenase pseudogene 2 12477932,9691181,1570320 245 NR_002710,AC027763,AF020775,AF020774,AL832768,BC041851 AAH41851,Q49AA2 Hs.378695 GDB:9834524 ALOX12E|MGC43625 pseudo 1352372 ALOX15 arachidonate 15-lipoxygenase 1580863,70288 10200270,18392641,18239141,18187376,18180398,18090132,17991885,17959182,17662651,17652958,17520163,17439326,17344094,17227895,17164146,17043146,16997127,16847316,16820097,16598376,16556493,16357157,16320347,16179498,16000313,15996861,15967444,15912043,15879104,15838625,15489334,15459485,15194425,15111312,14757756,14643174,12907138,12748293,12731864,12664628,12664577,12477932,12084190,11956198,11861792,11475334,11196700,11023533,10464294,9931410,9822675,9700053,3202857,9414270,9224951,7961680,3356688,3202520,2719708,2010530,1944593,1825526,1733732,1729692,1662607,1570320,1566855 70288 246 NM_001140,AC118754,AY505111,CH471108,U63384,U88317,AK290309,BC029032,M23892,M95923 NP_001131,AAR84235,EAW90427,EAW90428,AAC52118,AAB49305,BAF82998,AAH29032,AAA36182,AAA35482,P16050,Q12938 Hs.73809 GDB:132454 15-LOX-1|15-LOX2 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. 1580863,1578310 15799828,15797645,15489334,15342556,15247906,12704195,12659684,12477932,11350124,10542053,2318885,16556493,11839751,9177185,18156936,17139268,16682954 1578310 247 NM_001141,NM_001039130,NM_001039131,AC129492,AF149095,AJ305028,AJ305029,AJ305030,AJ305031,CH471108,AF468051,AF468052,AF468053,AF468054,AK292779,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,AAH35217,AAH63647,AAB61706,O15296,ABM82271,ABW03380 Hs.111256 GDB:9862759 15-LOX-2 arachidonate 15-lipoxygenase, second type protein-coding 1345047 ALOX15P arachidonate 15-lipoxygenase pseudogene 64003 AJ294410 GDB:11508307 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. 734559,1331525,734558,734557,1580863,1626154,1626153,1626152,1300048,1578311,632195,1626150,1626151 10673219,10514459,10051563,9445303,9435249,9373149,9150468,9079648,8585605,8268460,8245774,8125298,8066098,7929073,7624354,7556168,3422434,3134355,2565035,2251250,1939225,1540191,12354292,9639560,2829172,11297527,11785969,18421027,18398223,18369664,18366797,18339529,18204779,18180307,18179798,18174194,17924829,17909879,17894944,17825794,17616938,17521309,17500032,17467166,17460547,17434678,17373938,17373700,17236225,17115186,17080223,17072961,17018618,16924104,16919603,16899822,16750418,16733792,16698924,16672272,16537708,16531984,16495221,16413224,16402861,16364163,16361798,16293801,16275640,16165096,16135563,15933245,15923196,15848143,15661803,15616590,15308583,15301234,15280375,15219851,15010818,14767568,14749922,14702425,14532840,12911785,12907138,12893830,12859962,12751769,12751768,12751728,12730086,12695552,12664574,12629151,12525578,12477932,12234060,12163367,12140292,12111389,12107604,12021253,11844797,11796736,11471199,11462800,10779545 734559,1331525,734558,734557,1626154,1626153,1626152,1578311,632195,1626150,1626151 240 NM_000698,AL731567,CH471160,J04520,M38191,AB208946,AK225603,BC034464,BC040450,BC130332,BC132677,BQ003253,J03571,J03600 NP_000689,CAI41243,EAW86642,EAW86643,AAA59522,AAA63212,BAD92183,AAI30333,AAI32678,AAA65450,AAA36183,P09917,Q59H13 Hs.89499 GDB:132453 5-LO|5-LOX|5LPG|LOG5|MGC163204 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. 1578317,1331525,1580863,632195 2300173,18398440,18398223,18374923,18369664,18366797,18323512,18318662,18084092,17655870,12571239,12477932,11090070,11035107,10036194,9445303,9435249,8777565,8703034,8440384,8071328,8049076,7938075,1857337,1673682,1588922,17627106,17600184,17505527,17460547,17387518,17304054,16939001,16778124,16282974,16144515,16127181,15886380,15876305,15861005,15784112,15731479,15640973,15593193,15489334,15057823,14770184,14749922,14702425,12911785,12629151 1578317,1331525,632195 241 NM_001629,AL512642,AY619687,CH471075,M60470,M63259,M63260,M63261,M63262,BC018538 NP_001620,CAH74084,AAT38104,EAX08467,AAA35845,AAH18538,P20292,ABM82573,ABM85762 Hs.507658 GDB:7178351 FLAP 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 17436029,17139268,17045234,16344560,15629692,15489334,14702039,12477932,11773004,11350124 1599073 59344 BC101939,BC103508,BC104724,DA183156,NM_021628,AC129492,AJ305020,AJ305021,AJ305022,AJ305023,AJ305024,AJ305025,CH471108,AF182218,AJ269499,AK292732,AK313677,BC101938 AAI01939,AAI01940,AAI03509,AAI04725,Q9BYJ1,NP_067641,CAC34518,EAW90093,EAW90094,AAG16899,CAC12843,BAF85421,BAG36428 Hs.713204 GDB:11508309 E-LOX|MGC119694|MGC119695|MGC119696|eLOX3 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. 1580863,1300048 2841341,17498884,16344560,15831710,15774940,15715171,15302935,15143152,12919939,12660142,12577238,12477932,12466148,12372831,11352565,9755994,8449034,8240697,7482591,3697102,3687940,3469665,3468508,3458202,3443302,1458595,1321014,17353931 248 NM_001631,AC068134,CH471063,J03930,Y00512,AA190871,BC132678,DA925041,M15694,M21499,M31008 NP_001622,AAY24089,EAW70997,EAW70998,AAA98617,CAA68564,AAI32679,AAA51703,AAA51704,P09923 Hs.37009 GDB:119671 IAP alkaline phosphatase 1, intestinal, defined by ssr 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 80216 NM_025144,NM_001102406,AC004049,CH471057,AB040960,AB075877,AK026323,AK026715,AK091872,AK097246,AY044164,BC028117,BC060780,BE155590,BX648798,DB250317,AK131090 NP_079420,NP_001095876,EAX06274,EAX06275,EAX06276,BAA96051,BAD38659,BAB15444,BAC85140,AAK94675,AAH60780,Q96QP1,Q9H623 Hs.652825 8430410J10Rik|FLJ22670|KIAA1527|LAK protein-coding 1343226 ALPK2 alpha-kinase 2 14702039,10021370 115701 NM_052947,AC104971,AC105105,CH471096,AK092133,AK092194,AK125243,AL832018,AY044450,BX647446,BX647639,BX647796 NP_443179,EAW63077,BAC03812,BAC86098,CAD89922,AAK95952,Q86TB3 Hs.656805 FLJ34875|FLJ43253|HAK protein-coding 1344760 ALPK3 alpha-kinase 3 1580863 12477932,11418590,10718198,10021370 57538 NM_020778,AC012291,AC103741,CH471101,AB037751,AK024829,AK026851,AL109725,AL109780,AL365516,AL832372,AL833276,AL833288,AY044449,BC016870,BC040192,BC067284 NP_065829,EAX01960,BAA92568,AAK95951,Q96L96 Hs.459183 FLJ21176|KIAA1330|MAK|MIDORI 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. 1599076,1580863,1601172,1601177,1601174,1601171,1601173 18469019,18158785,18037100,17922851,17719863,17563703,17516619,17395561,17253930,17242729,17229666,17195227,17043047,16932897,16893177,16681433,16602701,16583221,16344560,15824850,15694177,15660230,15629439,15562030,15489334,15476587,15230135,15208311,15135428,14756545,14702039,14517339,12920074,12815606,12788869,12638946,12477932,12412800,12397600,12372831,12357339,11999978,11855933,11834095,11810413,11760847,11745997,11528114,11479741,11438998,11073119,10865224,10834525,10737975,10690885,10679946,10508980,10332035,10094560,9844100,9823315,9814472,9781036,9747027,9192863,8954059,8406453,7833929,7509208,6933471,3954357,3532105,3446011,3410475,3174660,3165380,2928120,2346496,2220817,1458595,1409720,1321014 1599076,1601172,1601177,1601174,1601171,1601173 249 NM_000478,NM_001127501,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,AK097413,AK312667,BC021289,BC066116,BC090861,BC110909,BC126165,BC136325,DA625627,DA631560 NP_000469,NP_001120973,CAI16249,CAI16259,CAH72079,EAW94974,EAW94975,EAW94976,EAW94977,AAB59378,BAA32129,BAA88367,BAD93051,BAG35549,AAH21289,AAH66116,AAH90861,AAI10910,AAI26166,AAI36326,P05186,Q5T3S5,Q9UIL5 Hs.75431 GDB:118730 AP-TNAP|FLJ40094|FLJ93059|HOPS|MGC161443|MGC167935|TNAP|TNSALP 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. 1580863 15715171,15489334,14595869,12851398,12477932,12372831,12081485,11937510,3042787,12493773,16893177,16815919,16344560,16303743,15946677,15815621,11857742,11352565,11124260,6651840,3512548,3461452,3459156,3443302,3422741,3001717,2891112,2153284,1730777,1321014,16189514,12616539,11278620,11938765 250 NM_001632,AC068134,CH471063,M19159,M19161,AF217992,AK075432,BC009647,BC068501,BC094743,CR599162,CR621490,DA851165,M12551,M13077,M14169,M14170 NP_001623,AAY24087,EAW70991,AAA51710,AAH09647,AAH68501,AAH94743,AAA51706,AAC97139,AAA51708,AAA51709,P05187,AAA51705 Hs.284255 GDB:119672 ALP|PLAP 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. 1580863 6814793,6651840,3674755,3519002,3512548,3461452,3459156,2162249,17009260,16412386,16344560,15815621,15489334,12477932,12372831,11937510,11124260,10471145,9823315,7166303,3443302,3422741,3387245,3042787,3001717,2921344,2834730,2745460,2578098,2297757,2171580,2153284,2009524,1730777,1722150,1581814 251 AC068134,NM_031313,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 GDB:119673 ALPG|ALPPL|GCAP protein-coding 1346648 ALPPP alkaline phosphatase, pseudogene 11352565 260330 AF307337 GDB:11509985 1321241 ALS2 amyotrophic lateral sclerosis 2 (juvenile) 1599080,1580863 15247254,16670179,12837691,16049005,11586298,17239822,16085057,17955197,17698795,16249884,15579468,15489334,15388334,15371724,14970233,14702039,14676054,14668431,12919135,12866199,12601111,12477932,12168954,12145748,12138710,11687798,11586297,10997877,9933298,9889004 1599080 57679 NM_020919,AC007242,AC007279,CH471063,AB046783,AB053305,AB053306,AF391100,AK023024,AK056413,AK291029,BC029174,BC071576,BM560426 NP_065970,AAX93181,AAY15058,EAW70291,EAW70292,EAW70293,BAB13389,BAB69014,BAB69015,AAL14103,BAB14362,BAF83718,AAH29174,AAH71576,Q53TT1,Q53TV2,Q6IQ41,Q96Q42 Hs.471096 GDB:135696 ALS2CR6|ALSJ|FLJ31851|IAHSP|KIAA1563|MGC87187|PLSJ protein-coding 1605837 ALS2CL ALS2 C-terminal like 17239822,15388334,14702039,12477932,11222402,8889548,8495979 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,S62796 NP_667340,NP_877576,AAK13665,EAW64775,EAW64776,EAW64777,EAW64778,EAW64779,EAW64780,BAD51817,BAB84944,BAC03895,BAC04237,BAC86572,BAD18448,BAD18450,AAH42906,AAH61883,AAH75825,AAI09234,CAH10367,AAB26772,Q60I27,Q8NAL7,Q8TEK5,AAI56526 Hs.517937 DKFZp686P238|MGC129698|RN49018 protein-coding 1353551 ALS2CR10 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 10 11586298 65072 AB053312 Hs.664613 GDB:11508580 protein-coding 1345082 ALS2CR11 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 16189514,15815621,15489334,14702039,12477932,11586298 151254 BX648732,NM_152525,AC007282,CH471063,AB053313,AK058080,AK097651,AL833429,BC030659,BG701187 NP_689738,AAY14693,EAW70277,EAW70278,EAW70279,EAW70280,BAB69021,BAB71654,BAC05132,AAH30659,Q53TS8,Q8N7U5,Q96Q36 Hs.335788 GDB:11508581 FLJ25351|FLJ40332 protein-coding 1343894 ALS2CR12 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 1580863 11586298,16189514,12477932,8889548 130540 NM_139163,NM_001127391,NG_007497,AC007256,CH471063,AB053314,AK124115,AK292283,BC031603,BX095441,CA314586 NP_631902,NP_001120863,AAY24226,EAW70267,EAW70268,EAW70269,EAW70270,BAB69022,BAF84972,AAH31603,Q53TT6,Q8N1B6,Q96Q35 Hs.107944 GDB:11508582 protein-coding 1317004 ALS2CR13 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13 14702039,12477932,11586298 150864 BC021689,BC065010,BC106906,BC106907,BX537704,NM_173511,AC009960,AC098831,CH471063,AB053315,AI523857,AK025007,AK096090,CR614335 AAH65010,AAI06907,AAI06908,NP_775782,AAX76518,AAY24090,EAW70311,EAW70312,BAB69023,BAC04700,CAD97817,Q6P1L5,Q7Z3M2 Hs.471130 GDB:11508584 DKFZp686H01244|FAM117B|FLJ38771 protein-coding 1353075 ALS2CR14 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14 11586298 65068 Q96Q33 NM_178231,AB053316 GDB:11508585 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 GDB:11508587 MGC164581 protein-coding 1350818 ALS2CR2 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2 This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. 1580863 14676191,14517248,16879967,16756488,15815621,15489334,14702039,12574163,12477932,12048196,11161814,16189514 55437 NM_018571,AC007282,CH471063,AB038950,AK024720,AK027637,AK290457,AY093697,BC008302,BC090871,W74591 NP_061041,AAY14692,EAW70273,EAW70274,EAW70275,EAW70276,BAB32500,BAB55254,BAF83146,AAM19143,AAH08302,AAH90871,Q9C0K7,ABM84614,ABM84615,ABM87518,ABM87864,ABW03586,ABW03587 Hs.652338 GDB:11499746 CALS-21|ILPIP|ILPIPA|MGC102916|PAPK|PRO1038 protein-coding 1315474 ALS2CR4 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4 1580863 15815621,15489334,14702039,12477932,11586298 65062 NM_001044385,NM_152388,AC007279,AC007282,CH471063,AB053301,AF212043,AK022836,AK090601,AK125841,BC013730,BC029611,BQ219059,BX538000,CR603031,CR608801 NP_001037850,NP_689601,AAY15056,AAY14694,EAW70281,EAW70282,EAW70283,EAW70284,BAB69011,AAL56640,BAC03487,AAH13730,AAH29611,CAD97955,Q8WYG0,Q96Q45 Hs.12319 GDB:11508577 DKFZp313L091|FLJ33282 protein-coding 1315654 ALS2CR8 amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 1580863 16344560,16189514,15815621,15489334,14702039,12477932,12154087,11832226,11586298,9373149,8125298 79800 NM_001104586,NM_024744,AC010900,CH471063,AB053309,AB053310,AF454946,AK022737,AK025232,AK225218,AL834188,AV751848,AY032876,BC021999,BC033777,CK825814,DB094349 NP_001098056,NP_079020,AAY24288,EAW70320,EAW70321,EAW70322,EAW70323,EAW70324,BAB69018,BAB69019,AAL62330,BAB15088,CAD38882,AAK66819,AAH33777,Q8N187,ABM82274,ABM85454 Hs.444982 GDB:11505617 CARF|DKFZp667N246|FLJ12675|FLJ21579|NYD-SP24 protein-coding 1343013 ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) 11706389 253 GDB:249142 1349713 ALS5 amyotrophic lateral sclerosis 5 255 GDB:6242611 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. 734689,1580863 16189514,8756334,8673125,15489334,12929931,12477932,9847249,9753625,7690966,7592751 734689 8092 AC127069,AC131532,AC133794,AJ558236,CH471054,BC010923,U31986,NM_006982 NP_008913,CAD90155,EAW97398,AAH10923,AAB08960,Q15699 Hs.41683 GDB:5822902 CART1 protein-coding 1352384 ALX3 aristaless-like 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. 1580863 16825292,15226305,12477932,11807986,7991607 257 AL160006,CH471122,AF008203,BC112007,BC113428,AF008202,NM_006492 AAD01417,CAI22714,EAW56430,AAD01418,AAI12008,AAI13429,O95076,Q5T8M4,NP_006483 Hs.669953 GDB:9835929 MGC138212|MGC141988 protein-coding 1320963 ALX4 aristaless-like homeobox 4 1580863 11017806,11106354,11137991,17293876,16415175,16319823,15852040,14702039,11696550,11347906,9847249,8644736 60529 NM_021926,AC103854,AF308825,AJ279074,CH471064,AB058691,AF294629,AJ404888,AK092346 NP_068745,AAK38835,CAC15120,EAW68066,BAB47417,AAG23961,CAC15060,Q9H161,AAI66622 Hs.436055 GDB:10450304 FPP|KIAA1788|PFM|PFM1|PFM2 protein-coding 1350379 AMAC1 acyl-malonyl condensing enzyme 1 1580863 17101974,14702039 146861 NM_152462,AC022916,CH471147,AK097473 NP_689675,EAW80161,BAC05067,Q8N808 Hs.514814 FLJ40154|TMEM21A protein-coding 1344227 AMAC1L1 acyl-malonyl condensing enzyme 1-like 1 17101974 646000 XM_928960,XM_001720870,AP001017,AP001120 XP_934053,XP_001720922 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. 17101974,11896452 83650 NM_054028,AF131216,CH471157,AJ291677,BC131696 NP_473369,EAW65610,CAC82744,AAI31697,Q96KT7 Hs.458397 AMAC protein-coding 1345092 AMAC1L3 acyl-malonyl condensing enzyme 1-like 3 17101974 643664 NM_001102614,AC113189 NP_001096084 Hs.632234 TMEM21B 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] 1580863 10770938,18279392,18032455,17684125,17683075,17680641,17525630,17222253,17067752,16681682,16506014,16491480,16424894,16381901,15941951,15941950,15880524,15489336,15330799,15323145,14960364,14702039,14612535,12810662,12673556,12477932,12438241,12374981,12213712,12131161,11956072,11926890,11076863,11060344,10655068,9373149,9307041,8125298,7649182,1926890 23600 AL571115,AY330488,AY330489,AY935981,BC009471,BG708726,BI550368,BQ941482,BT007193,CR615811,CR616479,CR618063,CR625004,EF560721,NM_203382,NM_014324,AC139783,CH471118,AF047020,AF158378,AJ130733,AK000912,AK022765,AK222831,AK225749,AK292988,AL545355 AAQ67234,AAQ94259,AAY16192,AAH09471,AAP35857,ABQ59031,Q3KT79,Q53GV0,Q6VRU3,Q6VRU4,Q96GH1,Q9UHK6,CAL37503,NP_976316,NP_055139,EAX10815,EAX10816,EAX10817,EAX10818,AAD10205,AAF22610,CAB44062,BAD96551,BAF85677 Hs.508343 GDB:10795283 RACE 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. 1580863 18353005,12477932,11330937,11054529,10946765,10634581,9126491,9032019 258 NM_016519,AC134919,AY009124,CH471057,AF209780,AF219994,AF263464,AJ537437,BC106931,BC106932 NP_057603,AAG27036,EAX05623,EAX05624,AAG35772,AAF37355,AAF73048,CAD60938,AAI06932,AAI06933,Q3B861,Q3B862,Q546D7,Q9NP70 Hs.272396 GDB:5560456 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. 1580863 11877257,12817471,14516400,11883904,9570066,10097787,14718574,18226914,18046670,17766242,17633530,17584166,2430261,2428011,2419908,2413856,2408638,1898736,1714898,1708673,1700638,1696200,1694784,1385302,72071,7519849,1697852,17146627,17320766,17115277,17087727,16916777,16407257,16140784,15653696,15498571,15489334,15452109,15037615,14597629,12477932,11807786,11058759,11036097,10878892,10727951,10631976,10447938,9671439,9566199,9472382,9183005,7682553,7535251,7533162,7528952,7513643,7506257,6198962,6196366,6171497,6164372,3890890,3663330,2482577,2472935,2465147 259 NM_001633,AL137850,CH471090,CS208015,M88249,X53686,X54816,X54817,X54818,AK290837,AY544123,BC041593,CB141734,CR607981,CR615737,CR616173,M11562,X04225,X04494 NP_001624,CAI15899,EAW87404,CAJ44933,AAA59196,CAA37726,CAA38585,CAA38586,CAA38587,BAF83526,AAT11154,AAH41593,AAA59194,CAA27803,CAA28182,P02760,P78492 Hs.436911 GDB:120696 EDC1|HCP|HI30|IATIL|ITI|ITIL|ITILC|UTI alpha 1 microglobulin/bikunin protein-coding 1604349 AMBRA1 autophagy/beclin-1 regulator 1 17622796,17603510,17589504,14702039,12477932,12107410,11214970 55626 NM_017749,AC024293,AC115097,AC116021,AC127035,CH471064,AB051523,AK000301,AK023197,AK057896,AL137611,AL834190,BC045609,CA389399,CR590663,DQ870924 NP_060219,EAW67996,EAW67997,EAW67998,EAW67999,EAW68000,EAW68001,EAW68002,BAB21827,BAA91067,BAB14457,AAH45609,ABI74670,Q9C0C7 Hs.654644 FLJ20294|KIAA1736|MGC33725|WDR94 protein-coding 1348845 AMCD2B arthrogryposis multiplex congenita, distal, type 2B 9012416 8044 GDB:9837611 1343154 AMCN arthrogryposis multiplex congenita, neurogenic 9345093 261 GDB:9836823 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. 1578320,1580863 1917972,2460457,17259861,17069747,16344560,15521072,15489334,14718534,14574404,12600205,12477932,11583148,11583147,10574985,10378277,10029540,8353934,7789170,7634128,2687270,1527020,1400498,16941339 1578320 262 NM_001033059,AL357515,AL365206,CH471051,M88003,M88004,M88005,M88006,S47803,AJ420527,AJ420567,AK026205,AK125644,AK130474,AL832698,AU134914,NM_001634,BC000171,BC041345,BX640599,CR599478,CR604279,CR610717,CR611524,M21154 NP_001625,NP_001028231,CAH73388,CAH73389,CAH73390,CAI23233,CAI23234,CAI23235,EAW48307,EAW48308,EAW48309,AAD14903,CAI46113,AAH00171,AAH41345,CAE45705,AAA51716,P17707,Q49AB6,Q5VXN3,Q5VXN4,Q5VXN5,Q6N0B2,ABM85036 Hs.159118 GDB:119674 ADOMETDC|AMD|DKFZp313L1234|FLJ26964|SAMDC protein-coding 1603900 AMDHD1 amidohydrolase domain containing 1 15489334,15221005,14702039,12477932 144193 NM_152435,AC126174,CH471054,AB075878,AK054617,AK122802,AK290828,AL833144,BC029146 NP_689648,EAW97552,EAW97553,BAD38660,BAB70775,BAF83517,AAH29146,Q96NU7 Hs.424907 HMFT1272|MGC35366 protein-coding 1603049 AMDHD2 amidohydrolase domain containing 2 12477932,10810093 51005 NM_015944,AC093525,CH471112,AB209351,AF132948,BC018734 NP_057028,EAW85498,EAW85499,EAW85500,BAD92588,AAD27723,AAH18734,Q59FV8,Q9Y303 Hs.655420 CGI-14 protein-coding 1347122 AMDM acromesomelic dysplasia, Maroteaux type 9634515 264 GDB:9862243 1350121 AMDP1 S-adenosylmethionine decarboxylase pseudogene 1 7789170 263 NG_001073,AJ271735,U02035 GDB:120743 AMD|AMD2 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. 1300370,1599092,1300281 15111628,12613657,12477932,11922869,11922868,11877393,11852235,11839357,11406633,9041053,8254123,8118759,7782077,2737677,2509010,2059881,2004775,1916828,1734713,1483698,18067069,18042988,17688372,17645864,15772651,15489334 1300370,1599092,1300281 265 NM_182680,NM_001142,NM_182681,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,Q6NTC6,Q99217 Hs.654436 GDB:119675 AIH1|ALGN|AMG|AMGL|AMGX 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. 1580863 18067069,17588179,17189292,15489334,12815422,12477932,2737677,2037302,2004775,1734713 266 NM_001143,AC013412,CH471163,M55419,X14439,AY487421,BC069138,BC074976,BC074977,M86933 NP_001134,EAW59129,AAA62827,CAA32612,AAR39431,AAH69138,AAH74976,AAH74977,AAA51718,Q99218 Hs.1238 GDB:119676 AMGL|AMGY 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. 1580863 11724934,16168377,17681147,1649192,10456327,17043353,17310145,17157811,18037895,17872946,17265125,17071500,16979136,16563432,16407162,16186510,16184720,15489334,15331598,15303277,14702039,12962414,12670940,12477932,12067203,11902125,8889549,7626106,17353931 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 GDB:128795 GP78|RNF45 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. 1601182,1601180,1601181,1601183,1580863 15217995,3754790,14750901,12834017,18249372,18230658,17636279,17603052,17559842,17543956,17488788,17485437,17462637,17425826,17337470,17335955,17088539,16923748,16816803,16740653,16566934,16368745,16213847,16159935,16030171,15897891,15550498,15536161,15070957,15057824,14742691,14715867,14671316,14671196,12571168,12477932,12477536,12462075,12456604,11773638,11760020,11420127,9713320,8895659,8889695,8755541,8596488,8162013,3028714,2467567,2023927,1750488,1483695 1601182,1601180,1601181,1601183 268 NM_000479,AC005263,CH471139,K03474,AI791949,BC033218,BC049194 NP_000470,AAC25614,EAW69397,AAA98805,AAH49194,P03971,Q6GTN3 Hs.112432 GDB:118996 MIF|MIS protein-coding 733276 AMHR2 anti-Mullerian hormone receptor, type II 1580863,704409,70669 14750901,7493017,12462075,12834017,18310289,18230658,17988723,17636279,17337470,15489334,12477932,12477536,11588147,11549681,11420127,10874041,10589763,8940028,8889695,8872466,8572466,7488027 704409,70669 269 NM_020547,AC068889,CH471054,U29700,X89013,X91156,X91157,X91158,X91159,X91160,X91161,X91162,X91163,X91164,X91165,X91166,AF172932,AY714878,BC126316,CR627318 NP_065434,EAW96701,AAC50328,CAA61418,CAA62593,AAD48497,AAU21221,AAI26317,Q16671,Q647K2 Hs.659889 GDB:696210 AMHR|MISRII anti-mullerian hormone type 2 receptor protein-coding 1344740 AMICA1 adhesion molecule, interacts with CXADR antigen 1 16344560,15800062,15340161,14702039,12975309,12869515,12477932,10737800 120425 NM_001098526,NM_153206,AP002800,CH471065,AJ515553,AK057590,AK090409,AK094399,AK097285,AW804077,AY093686,AY093687,AY138965,AY358362,BC100794,BC100795,BC100796,BC100797,CR596683,CR598736,CR611880,DA090367,DC296115 NP_001091996,NP_694938,EAW67354,EAW67355,CAD56620,BAB71530,BAC03390,BAC04347,AAM15730,AAM15731,AAN52117,AAQ88728,AAI00795,AAI00796,AAI00797,AAI00798,Q496M1,Q496M2,Q496M3,Q496M4,Q5DTC5,Q86YT9,Q96LY5 Hs.16291 GDB:11509987 AMICA|CREA7-1|CREA7-4|FLJ37080|Gm638|JAML|MGC118814|MGC118815 protein-coding 1606525 AMIGO1 adhesion molecule with Ig-like domain 1 12629050,16710414,15489334,12477932,10574461 57463 NM_020703,AL355145,CH471122,AB032989,AY237007,BC040879,DC317707 NP_065754,CAI22942,EAW56391,BAA86477,AAO48948,AAH40879,Q86WK6 Hs.12264 AMIGO protein-coding 736884 AMIGO2 adhesion molecule with Ig-like domain 2 12629050,12843293,15489334,15107827,14702039,12477932 347902 NM_181847,AC004010,CH471111,AB079074,AB080610,AK091761,AK093111,AL833007,AY237005,AY454159,BC014103,BC047595,BC095477 NP_862830,EAW57923,EAW57924,BAC81188,BAC81189,CAH56293,AAO48946,AAR83271,AAH14103,AAH47595,AAH95477,Q86SJ2 Hs.121520,Hs.707051 ALI1|DEGA transmembrane protein amigo2 protein-coding 735629 AMIGO3 adhesion molecule with Ig-like domain 3 12629050,15489334,12975309,12477932,11347906 386724 NM_198722,AC099668,CH471055,AY237003,AY358134,BC101363,BC101364,BC101365,BC110418 NP_942015,EAW65011,AAO48944,AAQ88501,AAI01364,AAI01365,AAI01366,AAI10419,Q494V5,Q86WK7 Hs.567903 MGC120552 amphoterin induced gene and orf 3 protein-coding 1347896 AMLCR2 acute myeloid leukemia chromosome region 2 9382098 9163 GDB:9955145 1347096 AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 15772651,15558565,15489334,14702039,12477932,10049589,9480748 9949 AJ012221,AL031319,AL079334,AL359079,CH471120,AJ007014,AK001703,AK023637,AK055321,AK091430,BC024762,BC037983,BC051895,BC060813,BX648797,NM_001025580,NM_015365 CAB58122,CAB58123,CAI42703,CAI42704,CAI42537,CAI42538,CAI41539,CAI41540,EAX02663,CAB45546,AAH60813,Q5JXH5,Q9Y4X0,NP_001020751,NP_056180 Hs.656243 GDB:9958508 AMMERC1 protein-coding 1605931 AMMECR1L AMME chromosomal region gene 1-like 15489334,14702039,12477932 83607 NM_031445,AC012306,CH471103,AK024993,AK026685,AK095871,AL137415,BC004208,BC016181,BC067124,BC078174,BC084552 NP_113633,EAW95346,EAW95347,EAW95348,EAW95349,AAH16181,AAH78174,Q6DCA0 Hs.546449 FLJ38552|MGC4268 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. 1599101,1580863 17979745,16730941,14702039,14576052,12975309,12590260,12477932,11279523,11279507,9851841,8889548,8660894 1599101 81693 NM_030943,AL117209,CH471061,AF328788,AK055802,AY358468,BC029948,CB306421 NP_112205,EAW81798,EAW81799,AAK28532,AAQ89949,Q9BXJ7 Hs.534494 PRO1028 protein-coding 1606942 AMN1 antagonist of mitotic exit network 1 homolog (S. cerevisiae) 14702039,12477932 196394 NM_207337,NM_001113402,NR_004854,AC023157,CH471116,AK094708,AK123033,AL833434,BC037897,BC045831,BC067906,BI464068,CR598985,CR608460,CR618732,DC394802 NP_997220,NP_001106873,EAW88543,EAW88544,AAH37897,AAH45831,AAH67906,Q8IY45 Hs.585084,Hs.591146 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. 11257124,16043488,16754857,16678097,16640563,15804419,15489334,14702039,12902404,12477932,12406577,12168954,11257132,10470851 154796 NM_133265,NM_001113490,AC004827,CH471120,AB028994,AF286598,AK024344,AY987378,BC039408,BC050581,BC094712,BC130294 NP_573572,NP_001106962,EAX02626,EAX02627,BAA83023,AAG01851,AAY24451,AAH94712,AAI30295,Q4VCS5 Hs.528051 GDB:9955921 KIAA1071 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. 1580863 16019084,16381901,15489336,15489334,14702039,12477932,12406577,11733531,11230166,11076863 154810 BC040683,BX648729,CR625258,NM_130847,AP001152,AP002376,CH471065,AF453742,AK024350,AK074084,AK093699,AL137281,AL833833,BC014126,BC018449,BC037539 CAH56180,Q0JSH5,Q8IY63,Q8N209,Q8TEN8,CAL38539,NP_570899,EAW66943,EAW66944,EAW66945,AAL49764,BAB84910,BAC04218,CAD38693,AAH14126,AAH37539 Hs.503594 GDB:11505621 JEAP 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. 16189514,15489334,14702039,12477932,12406577,10231032,9373149,8889549,8125298 51421 NM_016201,AC010207,CH471052,AA056579,AB023206,AF175966,AK001343,AK074731,AK091040,AK223598,AK291616,BC011454,BC025981,BU178516,CR614830 EAW79150,EAW79151,EAW79152,BAA76833,AAD56361,BAD97318,BAF84305,AAH11454,AAH25981,NP_057285,Q8TBR8,Q9Y2J4 Hs.426312,Hs.705466 GDB:11505623 LCCP 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. 1578329,1580863 17630210,17565237,17530705,17463303,17376785,16996850,16947783,16875916,16767606,16710414,16707139,16671104,16570231,16360962,16021918,16021915,15882662,15793265,15677729,15368811,15309698,15239633,15173240,15135700,14702039,12783984,12477932,12213808,12117480,11102975,11028479,10996775,10086964,9880040,9730972,9443500,8355716,8335021,7201581,6406772,6167680,2502331,2345176,1631143,1400401,1370861,17687759,644316,18338202 1578329 270 AB160878,AL096773,CH471122,M37931,AK097077,AK291349,BC056678,M60092,NM_000036,AB125879,AB158499,AB158500,AB158502,AB160874,AB160875,AB160876,AB160877 BAD27430,CAI18828,CAI18830,EAW56606,EAW56607,AAG24258,BAF84038,AAH56678,AAA57281,P23109,Q5TF02,Q5W9V2,Q6F4B5,NP_000027,BAD69565,BAD23974,BAD23975,BAD23977,BAD27426,BAD27427,BAD27428,BAD27429,Q6F4B6,Q6F4B7,Q6F4B8,Q6F4B9,Q6I6Y1,Q6I6Y2,Q6I6Y3,Q6PH79,Q6PJ57,AAI40300,AAI41601 Hs.89570 GDB:119677 MAD|MADA adenosine monophosphate deaminase 1 protein-coding 1346106 AMPD2 adenosine monophosphate deaminase 2 (isoform L) 1580863 8764830,17081983,16964243,15489334,12745092,12477932,8526848,1429593,1400401 271 NM_139156,NM_004037,NM_203404,AL355310,CH471122,M91029,U16269,U16272,AK025706,BC007711,BC030217,BC075844,CR591398,S47833,U16270,U16267,U16268 NP_631895,NP_004028,NP_981949,CAI19305,CAI19306,CAI19307,EAW56396,EAW56397,EAW56398,EAW56399,EAW56400,EAW56401,AAA62126,AAA62127,AAB06511,AAC50309,AAD56302,AAD56303,AAH07711,AAH75844,AAC50308,Q01433,Q5T693,Q5T694,Q5T695,AAA11725,AAC50306,AAC50307 Hs.82927 GDB:118753 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. 734568,1580863,1300048 9291127,16670071,15807549,12604357,12477932,12213808,11139257,8863347,8611627,8140814,8004104,7881427,3804327,1420359,1400401 734568 272 NM_000480,NM_001025389,NM_001025390,AC021914,CH471064,D31646,U29926,AK289998,BC126118,CR626009,D12775,M84720,M84721,M84722 NP_000471,NP_001020560,NP_001020561,EAW68567,EAW68568,EAW68569,BAA06505,AAB60408,AAB60410,BAF82687,AAI26119,BAA02240,AAA58365,AAA58366,AAA58367,A0AUX0,Q01432,AAB60409 Hs.501890 GDB:136013 adenosine monophosphate deaminase 3 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. 1300282 9182667,1628617,18206907,16733250,16671079,15489334,15345747,14704270,14529717,12853948,12690205,12565847,12477932,12456676,12057195,12023042,11877424,11113134,10931822,10899172,10764771,10748223,10542231,9694653,9603201,9513187,9348539,9315708,9280305,9195986,9148966,8552632,8245793,8076697,7757077,16189514 1300282 273 BC034376,U07616,X81438,NM_139316,NM_001635,AC007245,AC011309,AC012490,AC096581,AF099116,AF099117,AF099119,AF099120,CH236951,CH471073,AF034996,AF498092,AF498093,AF498094,AF498095,AF498096,AF498097,AK291447 AAH34376,AAA21865,CAA57197,P49418,Q8NFL3,Q8NFL4,Q8NFL5,Q8NFL6,Q8NFL7,Q8NFL8,Q9UQI2,Q9UQI3,Q9UQI4,Q9UQI5,NP_647477,NP_001626,AAS07541,AAS07391,AAS07563,AAD16283,AAD16284,AAD16285,AAD16282,EAL23989,EAL23990,EAW94110,EAW94111,AAC02977,AAM44806,AAM44807,AAM44808,AAM44809,AAM44810,AAM44811,BAF84136 Hs.592182 GDB:386990 AMPH1 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 9600239,8188235,16450403,16051266,14702039,12477932,11286506,10873393,9621520,8005589,7916605,6790577,6111451,1993704 1599106,1599107 275 NM_000481,AC104452,CH471055,D14686,AK091738,AK096062,AK290600,BC007546,BC044792,BC094771,D13811 NP_000472,EAW64984,EAW64986,BAA03512,BAF83289,AAH07546,AAH44792,BAA02967,P48728,Q49A62,Q96IG6 Hs.102 GDB:132138 GCE|GCST|NKH aminomethyltransferase (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 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. 1580863 17984929,17828263,17593303,17353931,16740002,16203048,16152770,15708646,15489334,15299664,15286789,15194503,15182367,14637141,12782315,12527308,12477932,12414807,12104089,11858714,6610603,6608795,7507116,6196780,6176528,2788608,2458567,2452973,2450054,2442579,2424823,2423416,2081604,1710976 276 NM_001008221,NM_004038,NG_004750,AC105272,M18671,M18674,M18715,M18786,M19233,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,BX487266,CB956272 NP_001008222,NP_004029,AAA58368,AAA16183,AAA52279,AAA57345,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,Q6NSB3 Hs.655232 GDB:120544 AMY1|AMY1B amylase, alpha 1a; salivary 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. 2423416,16203048,17353931,16152770,15286789,12477932,6608795,6176528,2788608,2452973,2081604 277 NM_001008218,NG_004750,AL513482,AI627716,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,CB957894,CB958435,CB958705 NP_001008219,CAI14928,CAI14929,CAI14930,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,Q5T084,Q5T085 Hs.662103,Hs.599274,Hs.654437,Hs.655232 GDB:120545 AMY1 amylase, alpha 1b; salivary 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. 2423416,16203048,17353931,15286789,12477932,6608795,6176528,2788608,2452973,2081604 278 NM_001008219,NG_004750,AL513482,AI687773,AK292341,BC063129,BC069347,BC069463,BC070302,BC092444,BC132985,BC132987,BC132995,BC132997,CB955582,CB985420,CB985730,CB987307,CD690933 NP_001008220,CAI14932,BAF85030,AAH63129,AAH69347,AAH69463,AAH70302,AAH92444,AAI32986,AAI32988,AAI32996,AAI32998,P04745,AAI46451,AAI56581 Hs.655232,Hs.662103 GDB:120546 AMY1 amylase, alpha 1c; salivary 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. 1580863,1300048 6336237,2788608,16152770,15648851,15571103,15489334,15304511,15286789,14718574,12477932,11914097,11772019,11376382,10769135,10091666,9373149,8528071,8193143,8125298,6610603,6608795,3260028,2458567,2452973,2450054,2423416,2081604,1284286,890964,16189514 279 NG_004750,AC105272,M18669,M18785,X07056,AK223463,BC007060,M28443,NM_000699 NP_000690,AAA51723,AAA52280,CAA30099,BAD97183,AAH07060,AAA51724,P04746,Q53F26,ABM83827,ABM87150 Hs.654437 GDB:120547 AMY2|AMY2B|PA amylase 1|amylase, alpha 2A; pancreatic 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. 1580863 2458567,2452973,2081604,890964,2401405,16152770,15489334,15286789,15252450,14702039,12477932,11408008,11376382,11347906,8268204,6608795,3260028,2788608,2701942 280 NG_004750,AC105272,CH471097,D90097,M18670,X07057,AK095605,AK127047,BC011179,BC020861,BX456665,DQ786288,NM_020978,M24895 NP_066188,EAW72902,EAW72903,EAW72904,BAA14130,AAA51725,CAA30100,AAH11179,AAH20861,AAA35525,P19961 Hs.484588 GDB:120548 AMY2 amylase, alpha 2b; pancreatic protein-coding 1348760 AMYP1 amylase, alpha pseudogene 1 15286789,6608795,2788608,2452973,2081604 281 NG_004750,AL513482 GDB:120549 AMY2P pseudo 1605859 AMZ1 archaelysin family metallopeptidase 1 15972818,14702039,12690205,12477932,11853319 155185 NM_133463,AC006028,CH236953,CH471144,AB075830,AJ635357,AK092107,AK289723,BC146753 NP_597720,EAL23959,EAW87269,EAW87270,EAW87271,BAB85536,CAG25749,BAF82412,AAI46754,Q400G9 Hs.42221 KIAA1950 protein-coding 1605392 AMZ2 archaelysin family metallopeptidase 2 15972818,15489334,15146197,14702039,12477932,11042152 51321 AJ635358,AK090981,AK126146,AW028610,BC035935,BC050709,BC056271,BE543044,BF978559,BM450564,BQ432895,CN278872,CR596257,CR598159,CR600562,CR606649,CR609550,NM_016627,NM_001033574,NM_001033569,NM_001033570,NM_001033571,NM_001033572,AC005332,CH471099 EAW89048,EAW89049,EAW89050,EAW89051,CAG25750,BAC86462,AAH50709,AAH56271,Q86W34,NP_057711,NP_001028746,NP_001028741,NP_001028742,NP_001028743,NP_001028744,EAW89047 Hs.293560 protein-coding 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 11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16565220,15489334,15302935,14702039,14657031,12477932,11179667,11179223,10922056,10500174,10318877,12956947 64682 NM_022662,AC093166,AC104651,CH471245,AJ278357,AK023807,AK094527,AL832013,BC005089,BC104902,BC104904,BX282336,CR623206 NP_073153,EAW52095,CAC19484,BAB14687,AAH05089,AAI04903,AAI04905,Q9H1A4 Hs.436527 APC1|MCPR|TSG24 protein-coding 1318993 ANAPC10 anaphase promoting complex subunit 10 10318877,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,15144564,12477932,11524682,11230166,10922056,10827173,10498862,16189514,12956947 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 Hs.480876 APC10|DKFZp564L0562|DOC1 protein-coding 2293158 ANAPC10P anaphase promoting complex subunit 10 pseudogene 729198 XR_015956,XR_039726,XR_016035,NG_007660,AC105754 Hs.686823 pseudo 1343647 ANAPC11 APC11 anaphase promoting complex subunit 11 homolog (yeast) 1580863 11739784,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,15256223,14702039,12477932,11573242,11042152,10922056,12956947 51529 NM_016476,NM_001002244,NM_001002248,NM_001002247,NM_001002246,NM_001002245,NM_001002249,AC137723,CH471099,AF151048,AF247565,AF247789,AK091360,BC000607,BC066308,BC095454,BC104641,BF435042,BF512771,BG707824,BM845909,BU554167,BU556841,CB106395 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,Q9NYG5 Hs.534456 GDB:11500562 APC11|Apc11p|HSPC214|MGC882 protein-coding 1346286 ANAPC13 anaphase promoting complex subunit 13 737633 15489334,15060174,14702039,12477932 737633 25847 NM_015391,AC010207,CH471052,AF086169,AK001285,AK026550,AK290761,AL050051,BC005398,BX537696,CR601244 NP_056206,EAW79143,EAW79144,EAW79145,EAW79146,EAW79147,EAW79148,EAW79149,BAF83450,CAB43251,AAH05398,Q9BS18 Hs.106909 APC13|DKFZP566D193|DKFZP566D193m|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. 1580863 9469815,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16964243,16364912,15489334,15231748,15164053,14657031,14508008,12477932,11739784,11691822,10922056,11285280,10718198,10500174,10318877,12956947,16189514 29882 NM_013366,AL929554,CH471090,AB037827,AF191337,BC001579,BC009487,BC032503,BC033579,BM925063,BU526961 NP_037498,CAH72881,EAW88361,BAA92644,AAF05751,AAH01579,AAH09487,AAH32503,Q9UJX6,ABM81778,ABM84933 Hs.533262 APC2|RP11-350O14.5 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. 1580863 6180011,9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,14702039,14684825,14657031,12477932,10922056,10500174,10318877,8889548,12956947 29945 NM_013367,AC108218,AC110812,CH471069,AF191338,AK001881,AK023597,AK292336,AL353932,AY429517,AY429518,BC059383,BI546948,CA312572 NP_037499,EAW92839,EAW92840,AAF05752,BAF85025,CAB89245,AAH59383,Q6PCC6,Q9UJX5 Hs.152173 APC4 protein-coding 1314558 ANAPC5 anaphase promoting complex subunit 5 The anaphase-promoting complex (APC) consists of at least 8 protein subunits, including APC5, CDC27 (APC3; MIM 116946), CDC16 (APC6; MIM 603461), and CDC23 (APC8; MIM 603462).[supplied by OMIM] 9469815,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16319895,15761153,15489334,15302935,15082755,14702039,14657031,12477932,10922056,10500174,10318877,16189514,12956947 51433 NM_016237,AC048337,AC069209,CH471054,AF191339,AK025614,AK054779,BC001081,BC001950,BC003095,BC006301,BC020340,BC034243,BC045686,BX537687,CR597802,CR603428,CR625495 NP_057321,EAW98259,EAW98260,EAW98261,AAF05753,AAH01081,AAH01950,AAH06301,AAH34243,AAH45686,CAD97812,Q49A41,Q9UJX4,Q9Y2B7 Hs.7101 GDB:11499750 APC5|PDL-108 protein-coding 1344930 ANAPC7 anaphase promoting complex subunit 7 The anaphase-promoting complex (APC) consists of at least 8 protein subunits, including APC5, CDC27 (APC3; MIM 116946), CDC16 (APC6; MIM 603461), and CDC23 (APC8; MIM 603462).[supplied by OMIM] 1580863 10500174,10477750,10318877,9469815,9110174,8619474,12956947,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,16319895,15743504,15489334,14702039,12477932,10922056 51434 AC144548,CH471054,AF191340,AK021809,AL137586,AL157481,AY007104,BC002941,BC009498,BC017316,BC040130,BC098264,BC098295,BC098362,NM_016238,BC099732,BC111798,BC141848,BC148236 NP_057322,EAW97909,EAW97910,EAW97911,AAF05754,CAB70828,CAH10690,AAH02941,AAH09498,AAH17316,AAH98264,AAH98295,AAH98362,AAH99732,AAI11799,AAI41849,AAI48237,Q2M2R1,Q4KMX6,Q69YV3,Q9UJX3 Hs.529280 APC7 protein-coding 1353092 ANCR Angelman syndrome chromosome region 282 GDB:119678 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. 1580863 10649442,7679494,11782452,9245697,10103013,2457905,9122172,2424496,2730651,2646638,17125737,2479414,16567967,15166501,11438326,12770725,11984825,9707554,15735021,10999833,15979542,16490744,15776477,3470787,3663649,16461950,18087731,17900154,17886298,17703939,17462671,17113198,16937522,16322296,15737636,15558023,15557516,15489334,15236995,15182336,15128420,15067362,15064314,14756559,14671622,14593238,12842050,12705339,12515546,12477932,12209593,12168899,11919285,11851402,11847008,11752456,11751393,11468363,11374889,9918722,9461294,9311977,8159679,8127865,7945327,3619929,2866795,2866794,2742853,2440105,2276743,1978563,1400510 283 NM_001145,NM_001097577,AF449647,AF449648,AF449649,AF449650,AF449651,AL163636,CH471078,M11567,AV646929,BC020704,BC054880,BC062698,BG176590,BQ773604,CB051790,CB157060,CB963791,CR407633 NP_001136,NP_001091046,AAL67710,AAL67711,AAL67712,AAL67713,AAL67714,EAW66450,EAW66451,AAA51678,AAH20704,AAH54880,AAH62698,CAG28561,P03950,Q05CV1,Q53X86,Q6P5T2 Hs.283749 GDB:119679 ALS9|MGC22466|MGC71966|RNASE4|RNASE5 protein-coding 1314740 ANGEL1 angel homolog 1 (Drosophila) 12508121,12477932,11943475,9872452 23357 NM_015305,AF111169,CH471061,AB018302,AK025609,AL137268,BC028714 NP_056120,AAD44362,EAW81261,EAW81262,EAW81263,BAA34479,CAB70667,AAH28714,Q8NCS9,Q9UNK9 Hs.497448 GDB:9955935 KIAA0759 protein-coding 1601837 ANGEL2 angel homolog 2 (Drosophila) 14702039,12477932,11943475 90806 NM_144567,AL592449,CH471100,AF510741,AI658922,AK022855,AK093947,AL079275,AY468376,BC016966,BC047469,BX103687 NP_653168,CAH71919,CAH71920,EAW93365,EAW93366,EAW93367,EAW93368,EAW93369,EAW93370,AAM44053,AAH16966,AAH47469,Q5VTE6,Q96AL9 Hs.157078 FLJ12793|KIAA0759L 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. 704373,1580863,1578337,704403,1578345,1578336,1626164,1643339,1643335,1643336,1601496,1643338,1643340,1626162,1626163,1626167,1626168,1626157 8980223,10766762,14665640,14749497,18326231,18199826,18080866,18035072,17943167,17803352,17785951,17728252,17724803,17637706,17603084,17562701,17558601,17525262,17466926,17341311,17322632,17168735,17039426,16956819,16917117,16830384,16803467,16723371,16690881,16645159,16614513,16547766,16354591,16049136,16020388,16000309,15892598,15823283,15781448,15769741,15746084,15694363,15692086,15562207,15498854,15453096,15381091,15284220,15242771,15213103,15198927,15161644,15094228,15019820,15001532,14991531,14715662,14672554,14597243,14561809,12958167,12890486,12816861,12810673,12717391,12649156,12612904,12477932,12427764,12402160,12243755,12239588,12213874,12168954,12138242,11967990,11891175,11870550,11856872,11827452,11776343,11729102,11165944,10944458,10854239,10706866,10514510,10343124,10051567,9723709,9660821,9545648,9525952,8980224,7642106,7584028,7584026,15542434,9204896 704373,1578337,704403,1578345,1578336,1626164,1643339,1643335,1643336,1601496,1643338,1643340,1626162,1626163,1626167,1626168,1626157 284 NM_001146,AC091010,AP000428,AP003480,CH471060,AB084454,AL700429,AW069541,AY055342,AY121504,AY124380,BC029406,BC152411,BC152419,BX648814,D13628,U83508 Q15389,Q5HYA0,Q5YLW1,Q8N6P3,AAI66662,NP_001137,EAW91909,EAW91910,EAW91911,EAW91912,BAB91325,AAL59669,AAM81745,AAM92271,AAH29406,AAI52412,AAI52420,CAI45984,BAA02793,AAB50557 Hs.369675 GDB:6045057 AGP1|AGPT|ANG1 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. 1580863,1300283 9204896,10766762,17943167,17904634,17785951,17724803,17704802,17673702,17630849,17601353,17558601,17513791,17505039,17409768,17395886,17361220,17341311,17322632,17287278,17258205,17200776,17167981,17141400,17030814,17003480,16978614,16978237,16956819,16877277,16830384,16803467,16790091,16723371,16714355,16690881,16629644,16614513,16538528,16525658,16465407,16458662,16424009,16417407,16344560,16338068,16290311,16242072,16182107,16129411,16020388,16009172,15823283,15769741,15743799,15734895,15694966,15642468,15562207,15542434,15498854,15489334,15375511,15284220,15284088,15213103,15198927,15161644,15127326,15112366,15094228,15003510,15002056,14991531,14976056,14768007,14767538,14726409,14702352,14568550,14556828,14507641,12861074,12810677,12717391,12612904,12477932,12213874,12176040,12138242,11861279,11856872,11578860,11447223,10964717,10514510,10343124,10051567,9927494,9723709,9545648,9373149,8125298,15893672 1300283 285 NM_001147,NM_001118887,NM_001118888,AC018398,AY563557,CH471153,CS322905,AB009865,AF004327,AF187858,AF218015,AJ289780,AJ289781,AK075219,AK225698,AK290070,BC022490,BC126200,BC126202,CR620685,DA829327 NP_001138,NP_001112359,NP_001112360,AAT69979,EAW80472,EAW80473,EAW80474,CAK96154,BAA95590,AAB63190,AAF76526,AAG17257,CAC08179,CAC08180,BAF82759,AAI26201,AAI26203,O15123,Q9H4C0,Q9H4C1,Q9HBP3 Hs.583870 GDB:6381312 AGPT2|ANG2 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. 1580863 17724803,16790085,15489334,15284220,15198927,12624729,12477932,11856872,11780052,11076863,10343124,10218486,10051567,15542434 51378 NM_015985,AL050325,AL161939,CH471133,CS322907,CS322909,AF074332,AF113708,BC111976,BC111978 NP_057069,CAI22922,EAX10654,CAK96155,CAK96135,AAD31728,AAD21587,AAI11977,AAI11979,Q9Y264,AAI11923,AAI18496 Hs.278973 GDB:9954828 AGP4|ANG-3|ANG4|MGC138181|MGC138183 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. 1580863 10025962,10051567,16710414,16303743,15950186,15940350,15489334,15284220,12624729,12477932,10473614,10318855,9373149,9286704,8889548,8125298,15542434 9068 NM_004673,AL355520,CH471067,AB056476,AF086266,AF107253,AK223467,AY358278,BC047670,BC050640,BM710120,BX499002,CD356427,CR621065 NP_004664,CAC13169,CAI21921,EAW91032,EAW91033,BAB40691,AAD19608,BAD97187,AAQ88645,AAH50640,O95841,Q53F22 Hs.591474 GDB:11502512 ANG3|ANGPT3|ARP1|AngY|KIAA0351|UNQ162|dJ595C2.2 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. 1580863 10473614,17347581,16303743,15489334,15164053,12975309,12624729,12477932,9110174,8619474 23452 AL598400,AY358274,BC012368,NM_012098,AL356862,CH471090,AF007150,AF125175,AK074726,AK075026 BAC11358,AAQ88641,NP_036230,CAI39724,CAI39725,EAW87649,EAW87650,EAW87651,EAW87652,AAD55357,BAC11164,AAH12368,Q8N2J9,Q8NCH7,Q9UKU9 Hs.653262 GDB:9956574 ARP2|HARP|MGC8889 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. 1580863,1578347,1578346 12565906,11877390,17110602,12975309,18193044,18193043,18063851,16531751,16335952,15489334,15340161,12909640,12624729,12518032,12477932,10644446 1578347,1578346 27329 NM_014495,AL138847,AY569015,CH471059,AF152562,AK289426,AY358273,BC007059,BC058287,BG562555,BG564770,CR600651 NP_055310,AAS66984,EAX06583,AAD34156,BAF82115,AAQ88640,AAH07059,AAH58287,Q5TAX7,Q9Y5C1 Hs.209153 GDB:9955263 ANGPT5 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. 1625353,1625354,1580863,1578349,1578348 10698685,11953136,12707035,18442626,18394990,17322881,17130448,17068295,17049073,16531751,16303743,16272564,16081640,16049480,15870027,15837923,15579652,15489334,15190076,14583458,12975309,12594814,12477932,12438262,12015030,11940516,11852057,10866690,9373149,8125298 1625353,1625354,1578349,1578348 51129 NM_139314,NM_001039667,AC136469,CH471139,AB056477,AF153606,AF169312,AF202636,AK222489,AK222524,AW954426,AY358275,BC023647,BG424907,CR590582,CR594816,CR602395,CR606270,CR609072,CR615250,CR615268,CR616961,CR619101 NP_647475,NP_001034756,EAW68930,EAW68931,BAB40692,AAD41088,AAF62868,AAG22490,BAD96209,BAD96244,AAQ88642,AAH23647,Q9BY76 Hs.9613 GDB:11502521 ANGPTL2|ARP4|FIAF|HFARP|NL2|PGAR|pp1158 protein-coding 1351491 ANGPTL5 angiopoietin-like 5 737633 15489334,12975309,12624729,12477932 737633 253935 AY358827,BC049170,BC053957,NM_178127,AP003383,CH471065,AK291523,AY169281 AAQ89186,AAH49170,Q86XS5,NP_835228,EAW67006,BAF84212,AAO38749 Hs.318370 GDB:11511159 protein-coding 1322443 ANGPTL6 angiopoietin-like 6 16806062,16335952,14764539,12975309,12871997 83854 NM_031917,AC020931,CH471106,AB054064,AF230330,AY358276,BC142632,CR591845,CR617920,CR621970 NP_114123,EAW84071,EAW84072,BAB91248,AAK06404,AAQ88643,AAI42633,Q8NI99 Hs.699819 AGF|ARP5 protein-coding 1350833 ANGPTL7 angiopoietin-like 7 1580863 8026862,16710414,15489334,15340161,12975309,12477932,11682471,11426320,9727400,8144038,16189514 10218 NM_021146,AJ300188,AL049653,AL391561,CH471130,DQ012507,AY358301,BC001881,BT009802,Y16132 NP_066969,CAC15571,EAW71685,AAY22173,AAQ88668,AAH01881,AAP88804,CAA76078,O43827,ABM83481,ABM86692 Hs.146559 AngX|CDT6|RP4-647M16.2|dJ647M16.1 protein-coding 1320055 ANK1 ankyrin 1, erythrocytic 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 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, however, the precise functions of the various isoforms are not known. Alternative polyadenylation accounting for the different sized erythrocytic ankyrin 1 mRNAs, has also been reported. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. 1599109,1599110,1578350,1580863 1833445,12409278,17720975,17716929,17520478,17128827,16762928,16718373,15489334,15051494,15040428,11427698,8640229,9430667,12719424,12631729,12527750,12477932,12456646,12444090,12130521,12019270,11372755,11222639,10910934,10893266,9804856,9628825,9587054,9373149,9235914,9024692,8703812,8681137,8385102,8227202,8125298,7505012,6449514,2971657,2970468,2968981,2141335,2137557,1689849,492324 1599109,1599110,1578350 286 NM_020476,NM_020475,NM_000037,NM_020477,NM_020480,NM_020478,AC027702,AC113133,CH471080,S82671,U49691,U50092,U50133,AA404587,AB209418,AI167814,AI684839,AK126647,AK129864,AK223578,BC007930,BC014467,BC030957,BC117121,BX647936,F28948,M28880,N63745,X16609 NP_065209,NP_065208,NP_000028,NP_065210,NP_065213,NP_065211,EAW63241,EAW63242,EAW63243,EAW63244,EAW63245,EAW63246,EAW63247,EAW63248,EAW63249,EAW63250,AAB46776,AAB47804,AAB47805,BAD92655,BAD97298,AAH07930,AAH30957,AAI17122,AAA51732,CAA34610,P16157,Q53ER1,Q6PK32,Q9UMG4,AAI56402,CAA34611 Hs.654438,Hs.667377 GDB:118737 ANK|SPH1|SPH2 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. 1599109,1599110,734572,1599114,1599116 14702039,14657231,14593108,12571597,12477932,11781319,11449000,11149946,10579720,9832558,8253844,7485162,1833308,1830053,15647482,12527750,17940615,17242276,17178715,17161064,17081983,16292983,16253912,15851119,15611082,15262991,15178757,15146197,15075330 1599109,1599110,734572,1599114,1599116 287 NM_001148,NM_020977,NM_001127493,AC004057,AC017007,AC093617,AC093879,AC093900,CH471057,M37123,AK095596,AL706912,BC017986,BC125235,BC125236,BQ716903,BQ890406,BX537758,BX538132,BX538239,CN259048,CR619899,X56957,X56958,Z26634 NP_001139,NP_066187,NP_001120965,EAX06287,EAX06288,EAX06289,EAX06290,EAX06291,EAX06292,AAA62828,AAI25236,AAI25237,CAD97827,CAD98033,CAD98077,CAA40278,CAA40279,CAB42644,Q01484,Q08AC7,Q08AC8,Q7Z307,Q7Z344,Q7Z3L5 Hs.620557 GDB:127607 DKFZp686M09125|DKFZp686P0948|FLJ38277|LQT4 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. 734573,1580863 15823567,7836469,8666667,18163421,17620337,17373700,17074766,17033732,16775201,16377635,15931389,15611082,15231748,14757759,14702039,12805291,12507143,12036953,11997395,11950515,11807096,11781319,7665168,14761957,11167825,10907644 734573 288 NM_020987,NM_001149,AC023904,AL359267,AL359377,AL592430,CH471083,AB209308,AK092361,AK092527,AK124230,AK126851,AK128784,AK292927,AL136710,BG427669,BX537917,BX648574,U13616 NP_066267,NP_001140,CAH73232,CAI41372,CAI41373,EAW54199,EAW54200,EAW54201,EAW54202,BAD92545,BAC03910,BAC86721,BAF85616,CAB66645,CAD97900,CAI56716,AAA64834,Q12955,Q13484,Q59G01,Q5CZH9,Q5JR65,Q5JR66,Q5JR67,Q5JR69,Q5VXD5,Q6ZT73,Q7Z3G4,Q8NAK2,Q9H0P5 Hs.499725 GDB:424503 ANKYRIN-G|FLJ45464 protein-coding 1603564 ANKAR ankyrin and armadillo repeat containing 15110750,14702039,12477932 150709 NM_144708,AC012488,AC013468,CH471058,AJ549812,AJ605761,AK027836,AK058144,AK098551,AK126073,BC037215,BC044907,BC047413 NP_653309,EAX10895,EAX10897,CAD71147,CAE53955,BAB71684,BAC05330,BAC86425,AAH44907,AAH47413,Q70AK8,Q7Z5J8,Q8N7F8,Q96LK7 Hs.655700 FLJ25415 protein-coding 1604469 ANKDD1A ankyrin repeat and death domain containing 1A 12477932 348094 NM_182703,AC069368,CH471082,AK075298,AK098736,BC027350,BC042002,BC047571,BC047607,BC101273,BC101274,BC101275,BC101276,BC110610,DR004550 NP_874362,EAW77703,BAC11532,BAC05399,AAH27350,AAH47607,AAI01274,AAI01275,AAI01276,AAI01277,Q495B1,Q6PI29,Q8TAJ8,EAW77702 Hs.207157 FLJ25870|MGC120305|MGC120306|MGC120307 protein-coding 1604222 ANKFN1 ankyrin-repeat and fibronectin type III domain containing 1 14702039 162282 AC015724,CH471109,AK095654,NM_153228,AC006600,AC006925 EAW94530,EAW94531,EAW94532,BAC04599,Q8N957,NP_694960 Hs.673040 FLJ38335 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. 16344560,15328530,14702039,12477932,12168954,10940552,10574462,10092534,9373149,8125298 51479 NM_016376,NM_020740,AC087292,AC087742,CH471108,AB033081,AB037360,AB073897,AK025483,AK025717,AK025960,AK057047,AK074324,AK091008,AK225170,AK292930,BC052308,BC060812,DA856905,CR933717 NP_057460,NP_065791,EAW90448,EAW90449,EAW90450,BAA86569,BAA90300,BAF85619,AAH52308,Q5H9P4,Q5RKV4,Q9P2R3,CAI46247,AAI48356,AAI52992 Hs.696087 ANKHZN|DKFZp686M19106|KIAA1255|ZFYVE14 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. 734569,734571,734570,634632,734964,1580863 11326272,10894769,18299954,17950726,17563703,17403715,17186460,17147692,16724232,16344560,15818664,15780964,15489334,15474385,15461680,14702039,14558096,13130483,12975309,12707589,12632434,12477932,12297989,12297987,12185249,11326338,10997877,10610710,9915952,9382103,9373149,8528213,8125298 734569,734571,734570,634632,734964 56172 AC010491,AC016575,AC025456,CH471102,AB046801,AF274753,AK001799,AK054966,AK130676,AK222631,AY358503,BC009835,BC014526,BQ008340,BU193060,CR613693,DA126651,NM_054027 NP_473368,EAX08034,EAX08035,BAB13407,AAF88039,BAD96351,AAQ88867,AAH09835,AAH14526,Q53HE9,Q9HCJ1,ABM83514,ABM86732 Hs.156727 GDB:9595425,GDB:11499751 ANK|CCAL2|CMDJ|CPPDD|FLJ27166|HANK|MANK progressive ankylosis 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. 12812986,16956752,16713569,16098192,14743216,14702039,14557257,12477932,11230166,10470851 54882 NM_017747,NM_024668,NM_017978,AC008438,AC011399,AF258557,AF521882,AI870943,AK000295,AK000904,AK022041,AK022433,AK024056,AK024189,AK074173,AK098574,AL136943,AY070436,BC004457,BC009420,BC009909,BC040231,BC117677,BC117678,BC127127,BC150486,CH471062,AF217646 NP_060217,NP_078944,NP_060448,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,EAW62058,EAW62057,EAW62059 Hs.653135 MASK|VBARP protein-coding 1602794 ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 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. 16344560,16297570,14743216,14557257,10470851 404734 NM_020690,AC008438,AC011399,CH471062,AB029008,AF521883,AK125734,DA859680 NP_065741,EAW62055,BAA83037,AAO14944,Q8IWZ2 Hs.653135 MASK-BP3|MASK-BP3arf protein-coding 1316285 ANKIB1 ankyrin repeat and IBR domain containing 1 1580863 17081983,15489334,14702039,12477932,10718198 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.83293 DKFZP434A0225|FLJ33123|KIAA1386 protein-coding 1313623 ANKK1 ankyrin repeat and kinase domain containing 1 1580863 18354387,18058350,17850642,17761687,17085484,16869231,15146457,14741327,12471243 255239 NM_178510,AF525298,AP002840,CH471065,EF444946,AF487542,AJ541797 NP_848605,AAM91924,EAW67216,EAW67217,ACA05931,AAQ09005,CAD62569,Q8NFD2,AAI56147 Hs.448473 PKK2 protein-coding 1353837 ANKL1 ankyrin-like 1 65976 GDB:11508679 1605878 ANKLE1 ankyrin repeat and LEM domain containing 1 16344560,15565891,14702039,12477932 126549 NM_152363,AC010463,CH471106,AK092706,AK096688,BC119015,BC125274,DA900798,DC410789,EU184013 NP_689576,EAW84586,EAW84587,EAW84588,BAC03953,BAC04840,AAI19016,AAI25275,ABW73565,Q0VF35,Q8NAG6 Hs.379097 ANKRD41|FLJ39369|LEM3|LEMD6 protein-coding 1604388 ANKLE2 ankyrin repeat and LEM domain containing 2 17081983,16964243,16344560,15489334,14702039,12477932,9734811 23141 NM_015114,AC135586,AC136467,AB014592,AK024061,AK025933,AK093451,AK293028,BC001530,BC025347,BC043157,BC062373,BC082962,DA757330,DB453975 Q86XL3,NP_055929,BAA31667,BAF85717,AAH01530,AAH25347,AAH43157,AAH62373,AAH82962 Hs.654628 FLJ22280|FLJ36132|KIAA0692|LEMD7 protein-coding 1345862 ANKMY1 ankyrin repeat and MYND domain containing 1 1580863 15489334,14702039,12477932,9373149 51281 NM_016552,NM_017844,AC124862,CH471063,AB034636,AK000506,AK056511,AK125881,AK225534,AL136618,AL833866,BC033495,BC036111,BC041887,BC073146,CR936600,CR936759 NP_057636,NP_060314,AAX88942,EAW71187,EAW71188,EAW71189,EAW71190,EAW71191,BAA92844,BAA91213,CAB66553,CAD38724,AAH33495,AAH41887,AAH73146,CAI56748,Q49A98,Q4ZFV3,Q5CZB7,Q6GPI0,Q9H0V8,Q9P2S6 Hs.656615 DKFZp686D20155|DKFZp686L21237|FLJ20499|ZMYND13 protein-coding 1314392 ANKMY2 ankyrin repeat and MYND domain containing 2 737633,1580863 15489334,14702039,12690205,12477932 737633 57037 NM_020319,AC005014,AC073201,CH236948,CH471073,AK001389,AK001740,AK023704,AL050390,BC015453,BC035353,CR598118 NP_064715,EAL24286,EAW93671,EAW93672,EAW93673,EAW93674,CAH56419,AAH15453,AAH35353,Q659G1,Q8IV38 Hs.157378 DKFZP564O043|ZMYND20 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 NP_075526,EAW95729,EAW95730,AAK34941,AAK01621,BAB14288,AAH12917,Q9H9E1,ABM82477,ABM85664 Hs.239154 GDB:10796901 ANKRA 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. 1578370,1580863,1578366 7730328,17239933,16450059,16344560,15805281,15698842,15489334,15164054,14583192,12679596,12524226,12477932,12054667,11309420 1578370,1578366 27063 NM_014391,AF131884,AL590622,CH471066,AK290960,AU139209,AY903446,BC005191,BC018667,X83703 NP_055206,CAC70101,EAW50116,BAF83649,AAX23581,AAH05191,AAH18667,CAA58676,Q05DQ9,Q15327,ABM83778,ABM87098 Hs.448589 ALRP|C-193|CARP|CVARP|MCARP|bA320F15.2 protein-coding 1321439 ANKRD10 ankyrin repeat domain 10 14702039,12477932 55608 Q5VW12,Q8IUW1,Q9BV12,Q9H6D6,Q9NXQ9,Q9NXR5 NM_017664,AK125100,BC001727,BC034813,BC039715,BX641022,CR604585,AL157875,AL442128,BX648721,CH471085,AK000100,AK000111,AK026017,AK094222,AK095763,AK096083,AK123341,AK124233 NP_060134,AAH01727,AAH39715,CAH56123,Q5VW12,Q8IUW1,Q9BV12,Q9H6D6,Q9NXQ9,Q9NXR5,CAH70238,CAH73037,CAH73039,EAX09134,EAX09135,EAX09136,BAA90945,BAA90951,BAB15323 Hs.525163 DKFZp686B07190|FLJ20093 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] 17521611,17081983,15489334,15184363,14702039,12477932,11483580 29123 NM_013275,AC092120,AC092123,AC137932,CH471184,AB209186,AF121775,AF130076,AK025964,AK057803,AK093762,AK125549,AK290994,AY131227,AY373756,AY533563,BC007975,BC017437,BC025283,BC031340,BC041059,BC041585,BC052290,BC058001,BC069013,BQ957747 NP_037407,EAW66731,EAW66732,EAW66733,EAW66734,BAD92423,BAC04221,BAC86199,BAF83683,AAN07913,AAR25661,AAS45544,AAF24125,AAH41585,AAH58001,AAH69013,Q59GC3,Q6PEL2,Q6UB99,Q6ZUM1,Q7Z5E5,Q8IVY9,Q8N206,Q9UHR3 Hs.335003 ANCO-1|LZ16|T13 protein-coding 1320836 ANKRD12 ankyrin repeat domain 12 16582619,15342556,15184363,14702039,12477932,10048485 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,BAC03811,CAH56382,AAR25662,AAS45545,AAH57225,AAH70234,Q3LIB9,Q6NSE1,Q6PG48,Q6UB98,Q8NAT6,Q9NXU3,AAI56481 Hs.464585 ANCO-2|ANCO1|FLJ20053|GAC-1|KIAA0874|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,AY364251,BC032833,BC057817,CR602264 NP_149112,EAW97891,EAW97892,EAW97893,AAC17109,AAD42869,AAQ76810,AAH32833,AAH57817,Q3ZTS7,Q6PEX8,Q8IZ07,Q9Y5A3 Hs.528703 ANKRD13|NY-REN-25 ankyrin repeat domain 13 protein-coding 1606740 ANKRD13B ankyrin repeat domain 13B 16344560,15489334,14702039,12477932 124930 NM_152345,AC104564,CH471159,AK000425,AK092673,AK097716,AK098421,BC032554,BC062597,BG029526,CR602753,DA445860 NP_689558,EAW51199,EAW51200,EAW51201,EAW51202,EAW51203,BAC05148,BAC05304,AAH32554,AAH62597,Q6P5X6,Q86YJ7,Q8N7H6 Hs.662164 FLJ20418|FLJ25555 protein-coding 1604586 ANKRD13C ankyrin repeat domain 13C 11256614,16710414,16381901,15489336,15489334,14702039,12477932,11230166,11076863,8889548 81573 NM_030816,AL158839,AL353771,AL354721,CH471059,AK074187,AL136717,BC016937,BC028840,BU622247,CD000035,CK299538 NP_110443,CAH70969,CAH70970,CAI22330,CAI22331,EAX06456,EAX06457,CAB66651,AAH16937,AAH28840,Q0JT18,Q0JUM1,Q8N6S4,CAL37790,CAL38346 Hs.105016,Hs.633223 DKFZP566D1346|FLJ14998|RP4-677H15.5|dJ677H15.3 protein-coding 1605234 ANKRD13D ankyrin repeat domain 13 family, member D 17081983,16713569,15489334,14702039,12477932 338692 NM_207354,XM_001129739,AP001885,CH471076,AK027313,AK057566,AK057681,AK091614,AK096277,AK124721,AK126438,BC044239,BC110419,BC121024,BC121025 NP_997237,XP_001129739,EAW74583,EAW74584,EAW74585,EAW74586,BAC85932,BAC86550,AAH44239,AAI10420,AAI21025,AAI21026,Q0VGC3,Q6ZTN6 Hs.438673 MGC50828 protein-coding 1349121 ANKRD14 ankyrin repeat domain 14 445575 1322851 ANKRD16 ankyrin repeat domain 16 15489334,15164054,14702039,12477932 54522 NM_019046,NM_001009943,NM_001009941,NM_001009942,AL137186,AL596094,CH471072,AK093489,AK094497,AK129672,AL137614,BC017324,BC062346,BC067892,CR605844,CR608136,CR614996,CR616690,CR619405 NP_061919,NP_001009943,NP_001009941,NP_001009942,CAI41072,EAW86429,CAB70843,AAH62346,Q6P6B7 Hs.289828 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. 12747765,12477932,11740861,11165478,9734811,8889548,14743216,15302935,14702039,14557257 26057 NM_198889,NM_032217,AC053527,AC095053,AC105757,CH471057,AB014597,AF308285,AI680274,AK025859,AK055209,AK096518,AL831903,AL833287,BC004173,BC004891,BC007747,BC009043,BC019963,BC029935,BC043394,BU608983,BU687888,BX648035,CD690889,CR606613 NP_942592,NP_115593,EAX05654,EAX05655,EAX05656,EAX05657,EAX05658,BAA31672,AAG48253,BAB15260,CAD38571,AAH04173,AAH04891,AAH07747,AAH19963,AAH43394,O75179 Hs.601206,Hs.644997 FLJ22206|GTAR|KIAA0697|NY-BR-16 protein-coding 1352126 ANKRD18A ankyrin repeat domain 18A 14702039,12477932 253650 XM_001726105,XM_001717620,XM_001713970,AL390726,AL591543,AB095935,AK093059,AK097951,AL834388,AY550933,BC056266,BC131497,BC152434 XP_001726157,XP_001717672,XP_001714022,CAI17285,BAC23111,BAC04038,AAS57859,AAH56266,AAI52435,Q6QA70,Q8NA88 Hs.561966,Hs.644630 FLJ35740|FLJ40632|KIAA2015|MGC176674 protein-coding 1351862 ANKRD18B ankyrin repeat domain 18B 12477932 441459 XM_001718334,XM_001717197,XM_001716325,AL139008,BC009440 XP_001718386,XP_001717249,XP_001716377,CAM15100,A2A2Z9,Q5W0G2 Hs.493710 bA255A11.3|bA255A11.5 protein-coding 1604746 ANKRD19 ankyrin repeat domain 19 14702039,12477932 138649 Q5JVG4,Q5JVG5,Q9H560 NM_001010925,AL136981,CH471089,AK093497,BC028712,BC038951,BC117367,DB449690 NP_001010925,CAC12726,EAW62830,EAW62831,EAW62832,EAW62833,AAH28712,AAH38951,AAI17368,Q5JVG4,Q5JVG5,Q9H560 Hs.643597 FLJ36178|bA526D8.2 protein-coding 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 11444853,17206105,16021567,15677738,15489334,15164054,15136035,14702039,14583192,12679596,12477932,12004005,11972353,11453652,10873377,1204005 26287 AJ304804,AL355315,AL359388,CH471066,AB058599,AJ249975,AJ304805,AJ346356,AJ583444,AK056990,BC020817,BC107759,NM_020349 NP_065082,CAC19411,CAI14193,CAI14194,EAW49916,EAW49917,BAB60958,CAB99416,CAC19412,CAE47432,BAB71334,AAH20817,AAI07760,Q5T457,Q9GZV1 Hs.73708 GDB:10795364 ARPP|MGC104314 protein-coding 1343235 ANKRD20A1 ankyrin repeat domain 20 family, member A1 11256614,16381901,15489336,15164053,11230166,11076863 84210 NM_032250,BX649567,AL136793 NP_115626,CAH71137,CAB66727,Q5TYW2,CAL38009,AAI46682,Q0JU03 Hs.632671 ANKRD20A|DKFZp434A171 ankyrin repeat domain 20a protein-coding 1604891 ANKRD20A2 ankyrin repeat domain 20 family, member A2 15164053 441430 NM_001012421,AL773545,BX664727 NP_001012421,CAI39536,Q4UJ75 Hs.632663 protein-coding 1604892 ANKRD20A3 ankyrin repeat domain 20 family, member A3 15164053 441425 NM_001012419,AL513478 NP_001012419,CAH72532,Q5VUR7 Hs.632663 protein-coding 1625837 ANKRD20A4 ankyrin repeat domain 20 family, member A4 15164053 728747 NM_001098805,CR769776 NP_001092275,CAI95383,Q5SQ80 Hs.645502 protein-coding 1351764 ANKRD20B ankyrin repeat domain 20B 729171 NR_003366,AC073464,AC097374,CR936649 CAI56787,Q4V308,Q4V309,Q5CZ79 Hs.456852 DKFZp686H1631 pseudo 1317302 ANKRD22 ankyrin repeat domain 22 737633 16344560,16341674,15489334,15164054,12477932,8889549 737633 118932 NM_144590,AL157394,AL353113,CH471066,CS300545,BC021671,BM785517,DA672161,N95187 NP_653191,CAI13859,CAH72239,EAW50159,CAK32209,AAH21671,Q5VYY1 Hs.217484 MGC22805 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. 1580863 15815621,15489334,15238456,14702039,14583192,12477932,12456686,10737800 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 protein-coding 1322819 ANKRD24 ankyrin repeat domain 24 15146197,12477932,11853319 170961 NM_133475,AC005578,AC006930,AB075861,BC028236,BI914435,BX117359,BX359277,CN286920 NP_597732,AAC33490,AAD15479,BAB85567,Q8TF21 Hs.197872 KIAA1981 protein-coding 1314711 ANKRD26 ankyrin repeat domain 26 17081983,16344560,15489334,15203218,15164054,14702039,12477932,10470851 22852 AL162272,CH471072,AB028997,AK001137,AK128577,AL137351,AL162063,NM_014915,BC110646,BC130453,CD626319,DA712092,DB228067 NP_055730,CAC19649,EAW86073,BAA83026,BAA91516,BAC87508,CAB70706,CAB82401,AAI10647,AAI30454,Q9UPS8 Hs.361041 MGC163325|bA145E8.1 protein-coding 1316102 ANKRD27 ankyrin repeat domain 27 (VPS9 domain) 737633,1580863 16525121,11256614,16381901,15498874,15489336,15489334,15231748,14702039,12477932,11230166,11076863 737633 84079 AA903176,AF447882,AK054561,AL136784,AL834335,BC015552,BC045605,BC050529,BI462844,AC008474,NM_032139 AAQ04657,BAB70755,CAB66718,CAD39003,AAH50529,Q96NW4,CAL38738,NP_115515 Hs.59236 DKFZP434L0718|FLJ00040|PP12899|VARP protein-coding 1343361 ANKRD28 ankyrin repeat domain 28 17928403,17023142,16564677,14743216,14702039,12477932,12168954,9205841 23243 AB002377,NM_015199,AC090945,AC090950,CH471055,AI565587,AK126888,AY367056,BC035170,BC048975,BC064513,BC080522,BC106948,BC113868,BC114476 EAW64262,EAW64263,EAW64264,EAW64265,NP_056014,EAW64257,EAW64258,EAW64259,BAA20833,BAC86737,AAQ72374,AAI06949,AAI13869,AAI14477,O15084,Q1WWL4,Q29RW6,Q3B857,AAI66612,EAW64261,EAW64260 Hs.335239 KIAA0379|PITK protein-coding 1317259 ANKRD29 ankyrin repeat domain 29 737633 15489334,14702039,12477932,8889548 737633 147463 NM_173505,AC010853,CH471088,AK057782,AK123197,BC030622,BM680506 NP_775776,EAX01159,EAX01160,BAB71569,BAC85555,AAH30622,Q8N6D5 Hs.374774 FLJ25053 protein-coding 1350593 ANKRD30A ankyrin repeat domain 30A 1580863 11280766,18041742,17536312,17330232,16675566,16335914,15342556,15164054 91074 NM_052997,AC067744,AL157387,AL357148,CH471072,AF269087,BP312910,DN831985 NP_443723,CAH71319,CAH71320,CAI16567,CAI16568,EAW85904,AAK27325,Q9BXX3 Hs.373787 NY-BR-1|RP11-20F24.1 protein-coding 1354207 ANKRD30B ankyrin repeat domain 30B 12477932,11280766 374860 XM_001717561,XM_001717810,XM_001716904,AP005121,AP006507,AP006564,AP006565,CH471277,AF269088,BC028407 XP_001717613,XP_001717862,XP_001716956,EAW53959,AAK27326,AAH28407,Q9BXX2 Hs.567889 NY-BR-1.1 protein-coding 1354086 ANKRD31 ankyrin repeat domain 31 14702039 256006 XM_927671,XM_001714469,XM_937397,AC008769,AC093259,AK097510 XP_932764,XP_001714521,XP_942490,BAC05081,Q8N7Z5 Hs.482533 FLJ40191 protein-coding 1312535 ANKRD32 ankyrin repeat domain 32 12477932,11230166 84250 NM_032290,AC008534,CH471084,AL136560,BC063674,CR533539,CR936768 NP_115666,EAW96026,EAW96027,EAW96028,EAW96029,CAB66495,AAH63674,CAG38570,Q9BQI6 Hs.657315 DKFZp761C121 protein-coding 1344617 ANKRD33 ankyrin repeat domain 33 16541075,14702039,12477932 341405 NM_182608,AC025259,CH471111,AF517108,AF517109,AF517110,AF517111,AF517112,AF517113,AF517114,AF517115,AF517116,AF517117,AF517118,AF517119,AF517120,AK125517,BC121152,BC121153,BX537908,BX640656,BX647684,BX649168 NP_872414,EAW58207,EAW58208,EAW58209,EAW58210,AAQ07989,AAQ07990,AAQ07991,AAQ07992,AAQ07993,AAQ07994,AAQ07995,AAQ07996,AAQ07997,AAQ07998,BAC86190,AAI21153,AAI21154,CAD97893,CAE45798,Q0VAA7,Q0VAA8,Q5K617,Q5K618,Q5K620,Q5K625,Q5K626,Q7Z3H0 Hs.433492 C12orf7|DKFZp686O1689 protein-coding 1347090 ANKRD34A ankyrin repeat domain 34A 14702039 284615 NM_001039888,AL160282,AK094282,AK128050,AL359622 NP_001034977,CAH10676,Q69YU3 Hs.620591 ANKRD34|DKFZp761F202 protein-coding 1604706 ANKRD34B ankyrin repeat domain 34B 15358210,12477932 340120 NM_001004441,AC008434,AC018764,CH471084,BC137441,BC137442,BC142957,CR749535 NP_001004441,EAW95857,EAW95858,AAI37442,AAI37443,AAI42958,CAH18341,A5PLL1,AAI43088,AAI43089 Hs.519404 DP58 protein-coding 2291762 ANKRD34C ankyrin repeat domain 34C 14702039 390616 XM_930512,XM_001719889,XM_939324,AC011797,AK090665,AK127037,AL109678 XP_935605,XP_001719941,XP_944417,P0C6C1 Hs.531231,Hs.648512 FLJ33346|FLJ45093 protein-coding 1352290 ANKRD35 ankyrin repeat domain 35 16710414,16344560,15489334,14702039,12477932,12107411 148741 NM_144698,AL160282,CH471244,AK057853,AK091120,AW245831,BC101618,BC101620,BQ636616,CR621087,DA399526 NP_653299,EAW71426,EAW71427,BAB71597,BAC03587,AAI01619,AAI01621,Q8N283 Hs.435761 FLJ25124|MGC126667|MGC126669 protein-coding 1342961 ANKRD36 ankyrin repeat domain 36 737633 16344560,15815621,15489334,12975309,12477932 737633 375248 NM_198555,AC018892,CH471207,AY358571,BC046186,BC128262,BC128517,BX647769,DA952980,DB516113,DW413497 NP_940957,AAY14642,EAW71306,EAW71307,AAQ88934,AAH46186,AAI28263,AAI28518,Q6UX02 Hs.541894 UNQ2430 protein-coding 1352925 ANKRD36B ankyrin repeat domain 36B 737633 16344560,15489334,14702039,12477932,12107410,10997877 737633 57730 AC017099,AC073995,AC159540,CH878726,AB046861,AF432208,AF432209,AF543495,AK024934,AK056042,AK074570,NM_025190,BC031883,BC038460,BC044844,BC071771,BC125132,BC125133,BC146835,BM511319,CA394381,CR741521,DB105321,DB353103,DR001190,AK090926 NP_079466,AAY24080,EAW53903,EAW53904,EAW53905,EAW53906,EAW53907,EAW53908,BAB13467,AAL99915,AAL99916,AAN40505,BAB15039,BAB71081,BAC11066,AAH31883,AAH44844,AAH71771,AAI25133,AAI25134,AAI46836,Q8N2N9,Q8TDH5 Hs.532921,Hs.541894 FLJ21281|FLJ90089|KIAA1641|MGC149864|MGC149865|MGC167812 kiaa1641 protein-coding 1604164 ANKRD37 ankyrin repeat domain 37 15809689,15489334,12477932 353322 CH471056,AY296056,BC088376,NM_181726,AC106897 EAX04647,EAX04648,AAP50252,AAH88376,Q7Z713,NP_859077 Hs.708185 Lrp2bp|MGC111507 protein-coding 1602717 ANKRD39 ankyrin repeat domain 39 16344560,15815621,15592455,15489334,12477932,11042152 51239 NM_016466,AC092636,CH471207,AF151034,BC031303,BU626151,BX091421,DA769410 NP_057550,AAY14966,EAW71328,EAW71329,EAW71330,AAF36120,AAH31303,Q53RE8 Hs.643430 MGC41816 protein-coding 1602991 ANKRD40 ankyrin repeat domain 40 15489334,12477932 91369 NM_052855,AC005921,CH471109,BC005853,BC012978,CR616806,CR627413,EU164539 NP_443087,EAW94589,AAH05853,AAH12978,CAH10502,ABW05020,Q6AI12,Q9BRY8 Hs.463426 DKFZp451K241|MGC15396 protein-coding 1605233 ANKRD42 ankyrin repeat domain 42 15489334,14702039,12477932,17123353 338699 NM_182603,XM_001131404,XM_001131651,AP000873,CH471076,AK095193,BC045621,BC062729,BX648690,CA447533,DQ508815,DQ508934,EF041819 NP_872409,XP_001131404,XP_001131651,EAW75086,EAW75087,BAC04496,AAH45621,AAH62729,ABF60230,ABF57994,ABL09300,Q6P5R7,Q8N9B4 Hs.503438,Hs.657164 FLJ37874|SARP protein-coding 1602435 ANKRD43 ankyrin repeat domain 43 12477932,15489334,14702039 134548 NM_175873,AC004775,CH471062,AK090823,AK092782,AW450551,BC104771,BC104775,BF437580,BF967159,BM967275,DB481577,DN949321 NP_787069,EAW62313,EAW62314,BAC03975,AAI04772,AAI04776,Q2M3V2 Hs.13308 protein-coding 1605602 ANKRD44 ankyrin repeat domain 44 16555005,15489334,14702039,12477932 91526 NM_153697,AC013264,AC017035,CH471063,AK097086,AK124039,AL133087,BC016985,BC050586,BC063622 NP_710181,AAX93155,AAY15060,EAW70141,EAW70142,BAC04946,CAB61404,AAH16985,AAH50586,AAH63622,Q53SL9,Q53T07,Q8N8A2 Hs.654819 MGC21968|MGC70444 protein-coding 1606657 ANKRD45 ankyrin repeat domain 45 16710414,14702039,12477932 339416 NM_198493,AL139142,BX248409,CH471067,AK127170,BC029866,BC126353,BC126355 NP_940895,CAI20937,EAW90950,BAC86865,AAI26354,AAI26356,Q5TZF3 Hs.130054 FLJ45235|MGC161631|MGC161633|RP3-436N22.4 protein-coding 1606443 ANKRD46 ankyrin repeat domain 46 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,CAI46169,AAH50396,AAH60843,Q86W74 Hs.530199 protein-coding 1606551 ANKRD49 ankyrin repeat domain 49 15489334,14702039,12477932,11371508,11162141 54851 NM_017704,NG_007261,AP000786,AP000943,CH471065,AF025354,AK000196,AK000448,AK057696,AL833977,BC017798,BG025192,CR609043 NP_060174,EAW66935,EAW66936,AAK60412,BAA91003,CAD38821,AAH17798,Q8WVL7 Hs.29052 FGIF|FLJ20189|FLJ20441|GBIF protein-coding 1312470 ANKRD5 ankyrin repeat domain 5 1580863 14702039,12477932,11780052 63926 NM_022096,NM_198798,AL109754,CH471133,AK025322,AK074463,AK097689,BC011591,BC022878,BC028189,BI562273,BI826033 NP_071379,NP_942093,CAB87618,EAX10355,BAB15111,AAH22878,Q5JX91,Q5JX92,Q8TCA8,Q9NU02,ABM81831,ABM84984 Hs.70903 GDB:11505625 FLJ21669|dJ839B4.6 protein-coding 1603620 ANKRD50 ankyrin repeat domain 50 14702039,12477932,10574462 57182 NM_020337,AC105421,CH471056,AB033049,AF075020,AK091516,AK127496,AK291068,AL110131,BC024725,BE887185,BX508307,BX640674,CD359799 NP_065070,EAX05206,BAA86537,BAC87007,BAF83757,AAH24725,CAE45806,Q8TB46,Q9ULJ7 Hs.480694,Hs.648024 KIAA1223 protein-coding 1601705 ANKRD52 ankyrin repeat domain 52 16964243,16541075,14702039,12477932 283373 NM_173595,AC073896,CH471054,AB190990,AK056831,AK125379,AK126893,BC024309,BC042070,DR002390 NP_775866,EAW96919,BAG16262,Q8NB46 Hs.524506 ANKRD33|FLJ34236 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,BAB13963,BAC04181,AAH35234,Q8N9V6,Q9HA91 Hs.512744 FLJ12056|FLJ36160 protein-coding 1605877 ANKRD54 ankyrin repeat domain 54 15489334,15461802,14702039,12477932,10591208 129138 NM_138797,CH471095,Z97630,AK127583,BC014641,BC066909,CR456471,CR592145,CR595513,CR600489,CR610061,CR617257,CR626329 NP_620152,EAW60192,EAW60193,EAW60194,CAB63057,BAC87043,AAH14641,AAH66909,CAG30357,Q6NXT1 Hs.135259 protein-coding 1605952 ANKRD55 ankyrin repeat domain 55 16344560,15489334,15372022,14702039,12477932 79722 BC106914,BC106915,DA292581,NM_024669,NM_001039935,AC016585,AC016638,CH471123,AK021857,AK123389,AW269928 AAI06915,AAI06916,Q3KP44,NP_078945,NP_001035024,EAW54941,BAB13916 Hs.436214 FLJ11795|MGC126013|MGC126014 protein-coding 1605533 ANKRD56 ankyrin repeat domain 56 345079 NM_001029870,BC137241,BC137255 NP_001025041,AAI37242,AAI37256,A6NEL2 Hs.257292 protein-coding 1349983 ANKRD57 ankyrin repeat domain 57 14702039,12477932 65124 Q53LP3 NM_023016,AK023346,AK025523,BC036652,BC066772,CR622761,AC011753,AC140485,CH471182 BAB15161,AAH36652,Q53LP3,NP_075392,AAY24292,AAY24143,EAW53857 Hs.355455 C2orf26|c2orf26 chromosome 2 open reading frame 26 protein-coding 1606099 ANKRD58 ankyrin repeat domain 58 347454 NM_001105576,AC005052,CR593492 NP_001099046,A6NJG2 Hs.355223 protein-coding 1317569 ANKRD6 ankyrin repeat domain 6 17592114,14702039,14574404,12477932,12203740,12183362,10231032,8889548 22881 NM_014942,AL096678,AL136971,AL138717,AL159174,CH471051,AB023174,AK021550,AK074189,AK092235,AK096867,AL117504,BC001078,BC042173,BM974140,CR608573,DN999929 NP_055757,CAI42280,CAI42281,CAI39609,CAI39610,EAW48550,EAW48551,EAW48552,EAW48553,BAA76801,CAB55968,AAH01078,AAH42173,Q9BVM3,Q9Y2G4 Hs.702213 GDB:9957254 DIVERSIN protein-coding 1315900 ANKRD60 ankyrin repeat domain 60 11780052 140731 XM_001134442,XM_001134462,XM_001717339,AL354776,CH471077 XP_001134442,XP_001134462,XP_001717391,CAI94996,EAW75502,Q9BZ19 GDB:11505286 C20orf86|bA196N14.3 chromosome 20 open reading frame 86 protein-coding 1352130 ANKRD7 ankyrin repeat domain 7 1580863 8812458,15489334,12853948,12477932,9847074 56311 NM_001077708,NM_019644,AC004029,AC006389,AC007874,CH236947,CH471070,AI149744,BC007020,BC032799,D78334,DB442002,DB447815 NP_001071176,NP_062618,AAB97503,AAF19231,EAW83538,EAW83539,AAH07020,AAH32799,BAA11348,Q92527,Q9UPM1 Hs.657737 GDB:11509988 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 protein-coding 1319381 ANKS1A ankyrin repeat and sterile alpha motif domain containing 1A 17353931,15500253,15489334,15345747,15324660,15302935,14574404,12477932,12439753,9039502,8889548,15778465 23294 NM_015245,AL033520,AL138721,AL591002,CH471081,AK025381,BC022396,BC031934,BC049213,BC132832,BF592042,BQ216321,BU676295,BX094969,CR625673,D86982 NP_056060,CAI20281,CAI12437,CAI15138,EAX03800,EAX03801,EAX03802,EAX03803,EAX03804,AAH22396,AAH31934,AAH49213,AAI32833,BAA13218,Q05CP0,Q49AR9,Q92625 Hs.656492 ANKS1|KIAA0229|MGC42354 protein-coding 1602104 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 16386788,15862129,15347684,15004329,12837293,12700034,12508107,12477932,12415113,10490826 56899 AY753193,BC026313,BC068451,BC091512,BC142669,BC150204,BG338019,BQ614098,BU568171,CR602042,CR624934,D80328,NM_020140,NM_181670,AC008126,AC011248,AC021653,AC048330,AC069437,AC078916,AC079954,AC084374,AC117377,AC126616,AC141554,AC141555,AC141556,AF145204,AF164792,AK124453,AK289768,AY281131,AY281132,AY283057,NM_152788,AY356353,AY620824 AAV28691,AAH26313,AAH68451,AAT39519,AAI42670,AAI50205,Q6V0K8,Q7Z6G8,NP_690001,NP_064525,NP_858056,AAD33951,AAF80756,BAF82457,AAP37612,AAP37613,AAP38184,AAQ56189 Hs.506458 AIDA|AIDA-1|ANKS2|EB-1|MGC26087|cajalin-2 protein-coding 1604545 ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 17081983,16964243,16713569,14702039,12477932,11853319 124401 NM_133450,AC020663,AC023830,CH471112,AB075857,AK056907,AK057329,AK123371,AK123496,BC032314,BC050387,CR624377 NP_597707,EAW85269,EAW85270,EAW85271,EAW85272,EAW85273,EAW85274,EAW85275,BAB85563,BAC85597,BAC85629,AAH50387,Q6ZW76,Q86W77 Hs.654859 FLJ32345|FLJ32767|KIAA1977 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,Q14DR0,Q8N8V4,AAI60087 Hs.115959 FLJ38819|HARP|MGC133380|MGC133381 protein-coding 1319654 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 15489334,15164053,14702039,12477932 203286 NM_173551,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,CR749472 NP_775822,CAH71295,CAH71296,CAM14169,CAH69985,CAH69986,CAM13062,EAW58892,EAW58893,EAW58894,EAW58895,ABC48694,BAC04317,AAH12981,AAH64367,CAH18298,CAH18302,Q68DC2 Hs.406890 ANKRD14|DKFZp686D24121|DKFZp781I0117|MGC70366|SAMD6 sterile alpha motif domain containing 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,BC000238,BC008948,BC028334,CR601291,CR618990,DA226194,DA899467,DQ412564 NP_060559,NP_001035869,EAW70708,EAW70709,EAW70710,BAA91596,BAB14462,AAH00238,AAH08948,ABD65410,Q9H8Y5 Hs.437647 FLJ10415|FLJ13144|ZNF744 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 54443 NM_018685,AC006960,CH236951,CH471073,AF273437,AK001468,AK001472,AK023208,AK291254,BC034692,BC070066,BE885510,BQ434804,BU630923,CR936650 NP_061155,EAW94067,EAW94068,EAW94069,EAW94070,EAW94071,EAW94072,AAF75796,BAA91710,BAA91711,BAB14463,BAF83943,AAH34692,AAH70066,CAI56788,Q9NQW6 Hs.62180 GDB:11499775 DKFZp779A055|Scraps|scra protein-coding 1342993 ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) 1679229 289 GDB:128454 1606331 ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 16169070,8192856,11729309,11555662,18439902,17962813,17557114,17266954,16713569,15895553,15642345,15489334,15247276,15136563,12807913,12565890,12524539,12522243,12477932,11909973,11830591,11565755,11360199,11163245,11018049,10400610,10086381,9373149,9353121,9144194,9110174,8970164,8679524,16341127,16009334,8619474,8530098,8125298,1655467,15308690 8125 AC087639,AC090734,CH471082,AF025684,AK127498,AK223280,AY007110,AY349171,BC000608,BC007200,BC106719,BC125143,NM_006305,BT007436,CR598445,CR605023,CR606008,CR625412,U60823,U73477,X75090 NP_006296,EAW77824,EAW77825,AAB91548,BAC87008,BAD97000,AAQ79832,AAH00608,AAH07200,AAI06720,AAI25144,AAP36104,AAC50570,AAB39706,CAA52981,P39687,Q08AJ6,Q3KPI8,Q6PKH8,Q6ZSE5,ABM84220,ABM87728 Hs.458747 GDB:9865524 C15orf1|I1PP2A|LANP|MAPM|MGC119787|MGC150373|PHAP1|PHAPI|PP32 protein-coding 731659 ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B 1580863 18039846,17081983,16094384,15895553,15489334,15164053,12522243,12477932,11729309,11565755,11018049,9473664,9373149,9285060,8125298 10541 NM_006401,AL354726,CH471105,AK223454,AW296974,BC013003,BC019658,BP395780,CR595726,U70439,Y07569,Y07570,Y07969 NP_006392,CAI15260,CAI15261,EAW58864,EAW58865,BAD97174,AAH13003,AAH19658,AAB37579,CAA68855,CAA68856,CAA69265,Q53F35,Q5T6W8,Q92688 Hs.494604 GDB:9957607 APRIL|PHAPI2|SSP29 protein-coding 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. 15895553,15146458,12524539,11678310,11360199,10471270,10400610,10086381 23520 NM_012403,AC079240,AC105250,AF008216,CH471056 NP_036535,AAY40978,AAD12746,EAX04832,O43423,Q4W5F9 Hs.661161 GDB:9865526 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. 15895553,15489334,12477932,11678310,11360199,10471270,10400610,10086381 23519 NM_012404,AC089987,CH471111,U71084,BC069122 NP_036536,EAW57983,AAD13667,AAH69122,O95626 Hs.532658 GDB:9865528 PP32R2 protein-coding 1321615 ANP32E acidic (leucine-rich) nuclear phosphoprotein 32 family, member E 1580863 16381901,15895553,15635413,15489336,15489334,14702039,12477932,12438741,11230166,11076863,9373149,8125298 81611 NM_030920,AL138795,CH471121,AK025624,AK092672,AK095228,AK223469,AL832664,AL832674,AL833660,AY057381,BC003380,CR596933,CR621754 NP_112182,CAI22806,CAI22807,CAI22808,CAI22809,EAW53575,EAW53576,EAW53577,EAW53578,EAW53579,BAC03942,BAC04505,BAD97189,AAL25814,AAH03380,Q53F20,Q5TB18,Q5TB20,Q9BTT0,CAL37954 Hs.709590 LANP-L|LANPL|MGC5350 protein-coding 737099 ANPEP alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150) 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. 1580863,1581742,1300048,1300284 10734069,2564851,1350662,15308636,18366676,18085638,17897790,17888402,17662271,17655775,17636545,17363739,17363734,17329256,16818694,16778789,16685268,16572171,16533817,16469741,16466852,16335952,16216591,15916720,15883031,15840518,15812828,15758076,15489334,8102610,7902291,7576235,6149934,2903074,2901990,2428842,1977688,1705556,1675638,15280478,15234325,15166647,15084671,14767532,14507917,12675232,12634402,12551991,12477932,12473585,12443882,12406907,11999577,11774469,11559807,11384645,11140838,10676659,10605003,9634079,9367365,9056417,8887485,8105105 1581742,1300284 290 NM_001150,AC018988,AC079075,AF527789,AJ426050,AJ426067,AJ427985,CH471101,M55522,AB209918,BC058928,BQ879097,CR595462,M22324,X13276 NP_001141,AAQ09003,CAD19802,CAD19822,CAD20931,EAX02067,EAX02068,AAA83399,BAD93155,AAH58928,AAA51719,CAA31640,P15144,Q59E93,Q71E46,Q8IVL7 Hs.1239 GDB:118728 APN|CD13|LAP1|PEPN|gp150 alanyl (membrane) aminopeptidase protein-coding 1344632 ANTP1 adenine nucleotide translocator pseudogene 1 (clone 29) 2157297 294 GDB:128822 1352374 ANTP2 adenine nucleotide translocator pseudogene 2 (clone 7) 2157297 295 GDB:128823 1343739 ANTP3 adenine nucleotide translocator pseudogene 3 (clone 13) 2157297 296 GDB:128824 1348379 ANTP4 adenine nucleotide translocator pseudogene 4 (clone 9) 2157297 297 GDB:128825 1350253 ANTP5 adenine nucleotide translocator pseudogene 5 (clone 19) 2157297 298 GDB:128826 1352141 ANTP6 adenine nucleotide translocator pseudogene 6 (clone 3) 2157297 299 GDB:128827 1347659 ANTP7 adenine nucleotide translocator pseudogene 7 (clone 2) 2157297 300 GDB:128828 1316162 ANTXR1 anthrax toxin receptor 1 The protein encoded by this gene is a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. This 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 have been described. 14507921,16564009,17081983,16762926,16401723,16141341,15993844,15777794,15689409,15489334,14759258,14755251,14702039,12700348,12477932,11709713,11700562,11574549,11559528,10947988,10545197,9373149,8125298,16189514 84168 NM_032208,NM_053034,NM_018153,AC112230,AC114802,CH471053,AF090095,AF279145,AF421380,AK001463,AK002160,BC012475,CR601167,CR608949,AK025429,AK126783,AK223273,AK292113,BC012074 NP_115584,NP_444262,NP_060623,AAX88860,AAY24067,EAW99855,EAW99856,EAW99857,EAW99858,AAK52094,AAL26496,BAA91707,AAH12475,Q4ZFV6,Q508I6,Q508I8,Q53FL1,Q53QD8,Q96EC6,Q9H6X2,AAH12074,BAB15128,BAD96993,BAF84802 Hs.165859 ATR|FLJ10601|FLJ11298|FLJ21776|TEM8 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. 1599125,1599126,1580863 15044490,16564009,16473908,16401723,15725249,15489334,15337774,15326297,15243628,15231748,15079089,14702039,14508707,12973667,12700348,12551953,12477932,11683410,9847074 1599125,1599126 118429 NM_058172,AC097711,AC109518,AC114773,CH471057,AB209913,AK023450,AK055636,AL110207,AL831848,AL832851,AY040326,AY233452,BC034001,BC042596,BC047345,BC107876,BC114374,BQ432519,CR590529,CR601853,CR607683,CR617102 NP_477520,AAY40907,EAX05848,EAX05849,EAX05850,BAD93150,BAB70976,CAI46157,AAK77222,AAP04016,AAH34001,AAI07877,AAI14375,P58335,Q32Q26,Q4W5H6 Hs.162963 CMG-2|CMG2|FLJ31074|ISH|JHF|MGC111533|MGC45856 protein-coding 1602061 ANTXRL anthrax toxin receptor-like 16344560,15164054,14702039 195977 NR_003601,XR_042164,AL450388,AL603965,AK057316,DB133812 A6NF34 Hs.538515 pseudo 1347960 ANUBL1 AN1, ubiquitin-like, homolog (Xenopus laevis) 1580863 15489334,15164054,14702039,12477932 93550 NM_174890,AL445201,CH471160,AF311324,AK090704,AK097504,AK097924,AK292420,AK292469,BC017591,BC036186,BC045587,BC048967,BC048968 NP_777550,CAH72966,CAH72967,CAH72968,CAH72970,EAW86653,EAW86654,EAW86655,EAW86656,AAG33850,BAF85109,BAF85158,AAH36186,AAH45587,AAH48967,AAH48968,Q4G0L0,Q5VVY2,Q5VVY3,Q5VVY6,Q86WR3,Q86XD8 Hs.89029 FLJ40185|ZFAND4 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. 734574,1580863,734965 2967291,10908733,10882119,16130169,2936963,18164291,17994624,17971499,17932043,17873281,17681950,17372018,17340616,17317721,17215481,17081983,17023068,17019707,17008549,16984915,16973129,16949910,16899607,16883066,16741918,16675446,16627980,16530434,16460738,16324197,16100712,16014420,15944914,15883023,15592455,15581623,15526283,15489334,15485879,15476183,15447985,15187149,15168732,15157173,15064349,14733945,14633604,14506282,12859969,12679902,12645011,12477932,12236584,12165536,11759108,11574426,11468004,10512675,9915835,9459484,8955167,8587144,8557678,8453382,8425544,3303336,2971450,2969496,2532504,2457390,1832554,1670773,1602151,17353931,16189514 734574,734965 301 CR592907,CR598206,CR599722,CR600988,CR602892,CR607819,CR608313,CR608352,CR610492,CR618229,CR622273,CR626421,X05908,CR407684,NM_000700,AL359997,CH471089,U25414,AK074480,BC001275,BC018683,BC034157,BC035993,BT019896,BT019916,BT019917 CAG28612,P04083,Q05BR2,Q5T3N0,Q5T3N1,Q5TZZ9,CAA29338,ABM82099,ABM85264,NP_000691,CAI16494,CAI16495,CAI16496,EAW62545,EAW62546,EAW62547,EAW62548,EAW62549,EAW62550,AAH01275,AAH34157,AAH35993,AAV38699,AAV38719,AAV38720 Hs.494173 GDB:120550 ANX1|LPC1 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. 1580863 10458909,15489334,12477932,12000734 11199 NM_007193,AC068989,AC095051,CH471056,AF196478,AJ238979,AY626137,BC007320,CB163976 NP_009124,EAX04810,AAF06672,CAB51917,AAT42216,AAH07320,Q6ITU8,Q9UJ72,ABW03531 Hs.188401 GDB:9957093 ANX14 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. 1580863 12577318,7508441,17081065,16189514,15489334,15197175,14702039,12805373,12601007,12477932,12445460,11883939,11013079,10037139,9503022,9373149,9268363,8639854,8125298,1602151,1299619 311 NM_001157,NM_145868,NM_145869,AL356095,AL513174,CH471142,AB209770,AJ278463,AJ278464,AJ278465,AK000567,AK056107,AK126287,AK222918,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,BAD96638,AAH07564,AAV38737,CAG29319,AAA19734,P50995,Q59EP1,Q5T0G7,Q5T0G8,Q5T0G9,Q6ICS0,ABM84429,ABM87480 Hs.530291 GDB:313076 ANX11|CAP50 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 1530946,14718574,11961095,11581287,10871286,10737800,9503022,9373149 312 P27216,Q53FB5,Q6FHB6 AC011134,NM_004306,NM_001003954,AC135166,CH471060,AJ306450,AK057781,AK223374,AW296908,AW854063,BC125158,BG823061,CR541838,Z11502 NP_004297,NP_001003954,EAW92046,EAW92047,EAW92048,CAC34622,BAD97094,AAI25159,CAG46637,CAA77578,P27216,Q53FB5,Q6FHB6 Hs.181107 GDB:9836021 ANX13|ISA|MGC150460 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. 1578382,1580863,1300285 11978811,11790298,11781322,17513451,17244347,17239928,17081983,17081065,17065584,16989986,16984913,16963080,16882661,16797773,16709165,16643892,16565220,16524621,16501079,16493010,16289162,16230353,16177123,16100712,15952740,15951569,15944914,15940368,15881658,15849182,15788416,15784727,15635413,15574370,15567461,15554585,15526283,15489334,15471954,15388255,15302870,15257287,15226372,15211578,15070701,15064349,15051937,15009185,14995994,14991775,14702039,14699089,14672933,14613585,14522961,14506282,14504107,13679511,12730231,12699894,12660155,12629510,12628297,12477932,12468550,3013422,7961821,10809787,18384219,18174463,18164291,18084608,17999956,17824845,17709546,17581860,12045186,11295233,11108961,11106497,10777578,10512675,10213612,10077593,9515022,9373149,8955167,8898866,8834809,8636985,8449982,8125298,8117306,8110754,7851890,7821789,7518469,7510700,2969496,2946940,2456953,2174397,2148288,1999197,1825830,1602151,1531641,16940516,16526095,16189514,17353931,12171929,9228079 1578382,1300285 302 NM_004039,NM_001002857,AC087385,CH471082,CQ878716,AK092006,AK124427,AK222542,AW087150,BC001388,BC001748,BC009564,BC013843,BC015834,BC016774,BC021114,BC023990,NM_001002858,BC052558,BC052567,BC066955,BC068065,BC093056,BT007432,BX640598,CR590378,CR595032,CR595469,CR596938,CR597222,CR597904,CR598583,CR599823,CR600114,CR608031,CR611402,CR616100,CR616357,CR617962,CR618374,CR618857,CR620533,CR622642,CR622682,CR625736,D00017,D28364 NP_004030,NP_001002857,EAW77582,EAW77583,EAW77584,EAW77585,EAW77586,EAW77587,CAH59520,AAH01388,AAH09564,AAH15834,AAH16774,AAH21114,AAH23990,NP_001002858,AAH52558,AAH52567,AAH66955,AAH93056,AAP36100,CAE45704,BAA00013,BAA05730,P07355,Q53HN8,Q6N0B3,Q8TBV2,ABM81934,ABM85113,AAH68065 Hs.511605 GDB:120554 ANX2|ANX2L4|CAL1H|LIP2|LPC2|LPC2D|P36|PAP-IV calpactin i heavy chain protein-coding 1346050 ANXA2P1 annexin A2 pseudogene 1 2174397,1611909 303 NR_001562,AC013477,M62896 Hs.546235 GDB:120551 ANX2L1|ANX2P1|LPC2A pseudo 1347050 ANXA2P2 annexin A2 pseudogene 2 2969496,2174397 304 XR_017784,NG_001337,NR_003573,AL139008,M62898 Hs.534301 GDB:120552 ANX2L2|ANX2P2|LPC2B pseudo 1344486 ANXA2P3 annexin A2 pseudogene 3 2174397 305 NR_001446,AC069020,M62895 Hs.591361 GDB:120553 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. 1580863 16130169,16236264,16169070,12665801,12477932,10662590,8889548,8639653,8626524,8276419,2975506,2968983,2159184,1830024 306 P12429,Q59EE3 CR407648,CR590148,CR600226,CR601701,CR611294,CR621887,CR622182,M20560,M63310,NM_005139,AC104808,CH471057,L20591,AB209868,BC000871,BU674495,BX336217 CAG28576,AAA59496,AAA52284,P12429,Q59EE3,NP_005130,EAX05822,EAX05823,EAX05824,AAA16713,BAD93105,AAH00871 Hs.480042 GDB:125900 ANX3 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. 1580863 2970257,16130169,18164291,17363042,16954445,16687573,16021519,15952740,15489334,15145526,12477932,12324456,10978337,10949146,10883672,10708762,9720986,9084877,8889548,8882729,8798684,8631806,8002935,2975506,2974032,2530088,2254922,2148260,2143074,1346776,16189514 307 AC019206,CH471053,AB209457,AK058017,AY453398,BC000182,BC011659,BC063672,BE886769,BX641114,CB305705,CR407681,CR595899,CR602990,CR617262,D78152,M19383,M82809,NM_001153 P09525,Q59FK3,Q6LES2,Q6MZI0,Q6P452,ABM83780,ABM87100,NP_001144,AAY14864,EAW99844,BAD92694,AAS47515,AAH00182,AAH11659,AAH63672,CAE46052,CAG28609,BAA11227,AAC41689,AAA51740 Hs.422986 GDB:131395 ANX4|DKFZp686H02120|MGC75105|PIG28|ZAP36 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. 1578384,1580863 2967495,8667030,16130169,11256614,18384219,18164291,17893975,17869070,17681182,17408414,17363042,17339269,17137622,17053060,16916647,16785226,16704958,16670301,16579937,16449315,16389029,16381901,16025836,15952740,15692104,15634283,15526283,15489336,15489334,15381697,15286043,15280367,15242878,15242332,15173196,14764526,14710359,12871462,12798778,12769841,12732504,12477932,12200370,12102261,11773704,11076863,10903505,10329451,9584197,9435213,9398511,8834809,8495746,8045287,8034319,7958998,7519374,2974032,2968983,2967291,2964863,2963810,2960376,2957692,2532007,2455636,2148156,2147412,1683830,1602151,1397263,1311770,1310621,16189514 1578384 308 NM_001154,AC096730,CH471056,U01681,U01691,U05770,AK312644,AY577779,BC001429,BC004993,BC012804,BC012822,BC018671,BC032093,CR536522,CR541842,CR591017,CR593220,CR593484,CR594353,CR594878,CR595133,CR596264,CR596501,CR596570,CR597782,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,CR599126 NP_001145,AAY40954,EAX05256,EAX05257,EAX05258,EAX05259,EAX05260,AAB40047,AAB60648,BAG35528,AAH01429,AAH04993,AAH12804,AAH12822,AAH18671,CAG38759,CAG46640,BAA00122,AAA52386,AAA35570,AAB59545,AAA36166,CAA30985,P08758,Q6FHB3,CAL38022,ABM82870,ABW03769,ABW03461 Hs.480653,Hs.658778 GDB:120555 ANX5|ENX2|PP4 annexin 5 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. 1580863 15576473,18164291,17824845,17822395,17081065,16674946,16153422,15489334,15355961,15242332,15226301,14702039,12885247,12534274,12477932,12140262,11696438,10618640,10571081,9883272,9515022,9195978,8834809,8798684,8709144,8146179,7698768,3258820,2963335,2731935,2528541,2139657,1831222,1420329,16189514,14530271,7753047 309 NM_004033,NM_001155,AC008641,CH471062,X77673,AK126836,AK130077,AK290672,BC017046,BQ924484,CR596318,D00510,J03578,Y00097 NP_004024,NP_001146,EAW61684,EAW61685,EAW61686,EAW61687,BAC86715,BAC85290,BAF83361,AAH17046,BAA00400,AAA35656,CAA68286,P08133,Q6ZP35,ABM82536,ABW03390 Hs.412117 GDB:119681 ANX6|CBP68 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. 734966,1580863,2292654,2292656,2292655 17708571,17112522,17018618,15489334,14519201,12477932,12445460,11994295,11839755,11338180,11287641,11278415,10672515,9373149,9268363,8125298,8053909,7738119,7515686,2542947,1825209,1533123,16189514 734966,2292654,2292656,2292655 310 NM_001156,NM_004034,AL353731,AL512656,CH471083,AB062429,AK222552,AK312447,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,BAG35354,AAH02632,AAP35851,CAG28614,AAA36616,P20073,Q53HM8,Q5F2H3,Q5T0M6,Q5T0M7 Hs.631827,Hs.705617 GDB:369042 ANX7|SNX|SYNEXIN 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 16638567,16344560,16203777,15928709,12477932,11917092,9373149,8045287,8018923,2530088,1364010,1313714 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 GDB:128069 ANX8|ANXA8L2|FLJ32754|VAC beta protein-coding 1354199 ANXA8L1 annexin A8-like 1 728113 NM_001098845,AL391137 NP_001092315,CAI12203,CAI12204,Q5T2P8 Hs.524293 bA301J7.3 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. 1580863 10899159,12832069,16710414,15489334,15302935,12477932,9931420,9742942,9165068 8416 AF230929,AJ009985,NM_003568,AL590133,CH471121,BC005830,BJ993162,CR536481 AAG16780,NP_003559,CAI13335,EAW53496,AAH05830,CAG38720,O76027,ABM83945,ABM87263,CAA08933 Hs.708113 GDB:9955102 ANX31 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. 1580863 1883828,15489334,12477932,9373149,8613354,8125298,8089145,8088847,1987068 313 AC087069,CH236951,CH471073,AK223476,BC025698,DC314135,M62840,NM_001637,AC083876 EAL23977,EAW94073,BAD97196,AAH25698,AAA35506,P28039,ABM81866,ABM85026,NP_001628 Hs.488007 GDB:134007 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. 1580863 9119395,15146197,14585497,9722954 314 NM_009590,NM_001158,AB012943,DQ060035,AF081363,BC142641,CA425343,CN355968,D88213,AC016889,CH471152 NP_033720,NP_001149,BAA32589,BAA32590,EAW60896,AAY43129,AAD39345,AAI42642,BAA19001,O75106,EAW60895 Hs.143102 GDB:4562632 DAO2|RAO 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. 1580863 9653080,8972912,17490641,17431736,17400359,17393062,17393059,17256751,17006978,16806498,16556889,16511016,16507887,16361866,16335952,16046623,15919838,15830186,15489334,15242332,15057044,14755492,14726375,14715500,14585497,12700900,12477932,12466139,12097405,9110174,8619474,1375396 8639 NM_003734,AB050502,AC016889,CH471152,DQ143944,AF054985,AF067406,AK025727,BC036368,BC050549,CR593009,U39447 NP_003725,BAB18866,EAW60897,AAZ38716,AAC09346,AAC25170,AAH50549,AAC50919,Q16853,Q9UEU7 Hs.198241 GDB:9956093 HPAO|SSAO|VAP-1|VAP1 protein-coding 1321760 AOF1 amine oxidase (flavin containing) domain 1 16344560,15489334,14702039,14574404,12477932,7566098 221656 AK091217,AK125318,BC113093,CR627410,DA099422,NM_153042,AL031774,AL589723,CH471087,AA332652,AJ420481 BAC03612,BAC86124,AAI13094,CAH10499,Q08EI0,Q5VUK5,Q8NB78,NP_694587,EAW55400,EAW55401 Hs.484813 C6orf193|DKFZp686I0412|FLJ33898|FLJ34109|FLJ43328|bA204B7.3|dJ298J15.2 protein-coding 1346422 AOF2 amine oxidase (flavin containing) domain 2 This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternate splicing has been observed; however, not all transcript variants have been fully characterized. 737633 16169070,17537733,18358812,17805299,17687328,17529991,17511474,17504018,17409384,17367163,17277772,17145880,17081983,16987819,16956976,16914725,16885027,16799558,16710414,16531230,16223729,16140033,16079795,16079794,15811342,15620353,15489334,14702039,12493763,12477932,12032298,11102443,9628581,9179496,11171972,9804427,15325272 737633 23028 AL031428,NM_015013,CH471134,AA664447,AB011173,AK094536,AK128669,AK290328,AL833812,BC016639,BC025362,BC040194,BC048134,BG717076 CAI19707,CAI19708,NP_055828,EAW95031,EAW95032,EAW95033,BAA25527,BAF83017,CAD38675,AAH16639,AAH25362,AAH40194,AAH48134,O60341 Hs.591518,Hs.656420 BHC110|KDM1|KIAA0601|LSD1|RP1-184J9.1 protein-coding 1343174 AOM arthroophthalmopathy, progressive (Stickler syndrome) 315 GDB:118998 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. 734575,1580863,1300048 7570184,8248161,17992631,12477932,11302742,8889548,8043023 734575 316 AF017060,CH471063,AB046692,AL079797,BC117179,BC117181,BM681054,CB153864,L11005,NM_001159,AC007163,AC080164,AF010260 AAB83966,EAW70208,EAW70209,BAB40305,AAI17180,AAI17182,AAA96650,Q06278,Q53RR8,Q53TV3,Q9BYF0,NP_001150,AAX93285,AAY24265,AAB83968 Hs.406238 GDB:5779120 AO|AOH1 aldehyde oxidase protein-coding 1603491 AOX2P aldehyde oxidase 2 pseudogene 11562361,8889549 344454 NR_001557,AC007163,AY245868 Hs.697219 GDB:11505627 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. 734576,1580863 7987321,15569716,15862967,15752756,15231748,15063762,12477932,12419313,12070169,11926829,11451993,11409905,11106728,10966473,10931822,10535737,10097102,9707615,8812422,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,11877451,10608806,16009131,9733768 734576 162 NM_145730,NM_001127,AC002059,CH471095,U36267,U36268,AI084003,BC046242,BM909530,BX537680,CR626722,CT841508,L13939 NP_663782,NP_001118,EAW59798,EAW59799,EAW59800,AAC50684,AAH46242,CAD97809,CAJ86438,AAC98702,Q10567,Q20WL3,Q7Z3M8,Q86X54,CAK54367,CAK54666 Hs.368794 GDB:386097 ADTB1|AP105A|BAM22|CLAPB2 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 14665628,12773381,12505986,12498786,12477932,12429846,12042876,11950833,11926829,11872161,11451993,11418592,11409905,11331585,11106728,10814529,10747088,10535737,10477754,9373149,8125298,11222723,9882340,16253302,15681409,12486136,16189514,9653655,9733768,12536145,15569716,16867982,15775984,15143060,14702039,15469849 164 NM_001128,NM_001030007,AC009097,AC010653,AJ224112,AJ224113,AJ224114,CH471166,AB015317,AK025020,AK055122,AK128078,AK225906,AL110198,BC003414,BC036283,BC051747,BU902252,CR590518,Y12226 NP_001119,NP_001025178,CAA11832,EAW59222,EAW59223,EAW59224,BAA33389,CAB53673,AAH03414,AAH36283,CAA72902,O43747,Q8IY97,Q9BTR5 Hs.461253 GDB:433861 ADTG|CLAPG1|MGC18255 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. 1580863 9733768,9762922,17553870,15231747,14702039,14665628,12505986,12477932,10477754,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,11333915 8906 NM_080545,NM_003917,AL135999,CH471078,AB015318,AF068706,AK096034,AK123354,AK226158,BC051833,BX161425,BX247963,CR594047,CR600746,CR610219,CR613895,CR614596 NP_536806,NP_003908,EAW66132,EAW66134,EAW66138,BAA33390,AAC67390,BAC85592,AAH51833,CAD61898,CAD62302,O75843,Q6ZWB2,Q86U03,Q86V28 Hs.343244 GDB:9957849 G2AD protein-coding 1348030 AP1GBP1 AP1 gamma subunit binding protein 1 This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. 631945,1580863 10477754,16162817,15758025,15489334,15302935,14702039,12808037,12538641,12477932,12176391,12042876,10814529,10777571,9653655,10747088 631945 11276 NM_080550,NM_007247,AC004099,AC091199,CH471199,AF169548,AK025335,AK025700,AK126988,BC090930,BC117313,BG120023,CB053470 NP_542117,NP_009178,EAW57594,EAW57595,EAW57596,EAW57597,EAW57598,AAD49732,BAC86778,AAH90930,AAI17314,Q9UMZ2 Hs.655178 GDB:9957624 MGC104959|SYNG 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. 1580863 14691137,15569716,18057255,17988225,16189514,15489334,15182197,14702039,14608369,12477932,12010461,11598115,11591131,11583591,11247301,11157985,11106728,10887964,10809756,10535737,9812899,9653655,8810314,7593184,7569928,11222723,9882340,9400603,16253302,11208076,9314527,9052838,9586638,9564030,15681409,12836198,12486136,11463741,9811611,9811606,9736718 8907 NM_032493,AC020911,CH471106,AB209808,AF290613,AK027528,BC017469,CR613573,CR615625,CR619890,CR623912,DQ059565 NP_115882,EAW84539,EAW84540,BAD93045,AAK28024,AAH17469,AAY54246,Q4TTY5,Q59EK3,Q9BXS5 Hs.71040 GDB:9957850 AP47|CLAPM2|CLTNM|MU-1A 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. 1580863 17220478,10338135,15569716,18356317,17261850,17145811,16343431,15489334,14702039,12477932,12134076,12086608,12010461,11573956,11157985,10887964,10640811,10535737,9794796,9714795,9373149,8810314,8125298,7569928,11222723,9882340,15182197,16189514 10053 NM_005498,AC011475,CH471106,AF020797,AK023863,AK222946,BC003387,BC003612,BC005021,CR596228,CR615885 NP_005489,EAW84124,EAW84125,AAD25870,BAD96666,AAH03387,AAH03612,AAH05021,Q53GI5,Q9Y6Q5 Hs.18894 GDB:9954938 HSMU1B|MU-1B|MU1B 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. 9733768,15569716,15489334,12853948,12477932,12215646,11707398,10966473,10535737,9847074,9653655,2040623,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,17353931,16189514,15469849 1174 NM_001283,NM_057089,AC004876,CH471197,AB015319,AK312151,BC003561,BI597121,BI598615,BI857465,BT006779,CR592205,CR599373,CR601876,CR608060 NP_001274,NP_476430,AAD45829,EAW50198,EAW50199,EAW50200,BAA33391,BAG35085,AAH03561,AAP35425,P61966,Q53YA7 Hs.489365,Hs.563509 GDB:1220201 AP19|CLAPS1|FLJ92436|SIGMA1A|WUGSC:H_DJ0747G18.2 protein-coding 1348501 AP1S2 adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants utilizing alternative polyadenylation signals exist for this gene. 1580863 15569716,17617514,17186471,15489334,12477932,12215646,10966473,10398241,9733768,2040623,11222723,9882340,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718,16189514 8905 NM_003916,AC004106,CH471074,AB015320,AF087876,AF091077,AF251295,AK130075,BC001117,BC071867,BI462192,BT006738,BX537780,CR598546,CR608831 NP_003907,EAW98903,EAW98904,EAW98905,EAW98906,EAW98907,EAW98908,BAA33392,AAP97176,AAC72946,AAG44595,AAH01117,AAH71867,AAP35384,CAD97839,P56377,Q549M9,Q7Z677,ABM81631,ABM84815 Hs.653504,Hs.656471 GDB:9957848 DC22|MGC:1902|MRX59|SIGMA1B protein-coding 1323403 AP1S3 adaptor-related protein complex 1, sigma 3 subunit 1580863 15569716,15489334,12477932,11598180,2040623,16253302,15681409,12486136,12836198,11463741,9811611,9811606,9736718 130340 NM_001039569,AC012512,AC093884,CH471063,AF393369,AK025338,BC009606,BC021898,BE856458,BG177582,BG340480 NP_001034658,AAY24244,AAY24166,EAW70813,EAW70814,EAW70815,EAW70816,AAL09586,AAH09606,AAH21898,Q53R44,Q53T10,Q96PC3 Hs.632555 protein-coding 1314769 AP2A1 adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. 1580863 12036598,16103193,2014052,10567358,11157096,18178234,15862967,15489334,15231748,15057824,14702039,14517991,12942088,12775724,12595566,12477932,12429846,12364336,11723124,11598180,11532990,11517213,11423532,11331585,11302736,11230166,11170396,10966473,10551776,10436022,10336464,9723620,9280305,9049247,8662627,8617812,7791877,7593184,2564002,17108326,9882340,16139856,15020715,16189514,12646615,7559550 160 NM_014203,NM_130787,AC006942,AC011495,AC098783,AF289221,CH471177,AK094317,AK124343,AL136925,BC014214,CR595429 NP_055018,NP_570603,AAD15564,AAL11039,AAL11040,EAW52535,EAW52536,EAW52537,BAC04329,CAB66859,AAH14214,O95782,Q8N9K4,ABM83179,ABM86380 Hs.467125 GDB:433859 ADTAA|AP2-ALPHA|CLAPA1 protein-coding 735567 AP2A2 adaptor-related protein complex 2, alpha 2 subunit 1580863 16103193,2014052,10567358,11157096,15489334,15231748,14702039,14530274,12477932,12168954,10910768,12086608,12057195,12036598,11707398,11470803,10966473,10748223,10477754,10430869,10048485,9723620,9700202,9373149,9195986,9049247,8662627,8617812,8552632,8125298,2564002,17108326,9882340,16139856,15020715,10608806,16189514 161 NM_012305,AP006477,AP006623,CH471158,AB020706,AB209422,AF049527,AK001986,AK027640,AK027891,AK075497,AK095725,AL117614,BC006155,BG705558,BI462785,AK223558 NP_036437,EAX02416,EAX02417,EAX02418,EAX02419,BAA74922,BAD92659,AAC27505,BAB55435,BAC11653,BAD97278,CAB56015,AAH06155,O94973,Q53ET1,Q59FN8,Q8N2F8,Q9UFK5,ABM84367,ABM87778 Hs.19121 GDB:433860 ADTAB|CLAPA2|HIP9|HYPJ adaptor protein complex ap-2, alpha 2 subunit protein-coding 734047 AP2B1 adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. 12086608,11777907,11170396,10966473,10944104,9707615,8595912,8262066,12221107,16103193,2014052,16903783,16581796,16189514,15761153,15592455,15489334,14530274,12900408,12732633,12477932,12429846,12429842,12419313,1969413,17108326,9882340,16139856,15020715,11285224,11463741,9811611,9384576,17353931 163 NM_001030006,NM_001282,AC004134,AC006237,AC015911,CH471147,AI691147,AK289528,AK292531,AY341427,BC006201,BC012150,BQ421703,BX643620,CR599737,CR602901,CR749392,M34175 NP_001025177,NP_001273,EAW80133,EAW80134,EAW80135,EAW80136,EAW80137,EAW80138,EAW80139,EAW80140,EAW80141,EAW80142,Q96EL6,ABM84208,BAF82217,BAF85220,AAQ20044,AAH06201,AAH12150,CAH18240,AAA35583,P63010,Q68DI0,Q7Z451,ABM87612 Hs.514819 GDB:433858 ADTB2|AP105B|AP2-BETA|CLAPB1|DKFZp781K0743 protein-coding 1350921 AP2M1 adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. 12032142,7989329,8595912,11285224,16103193,2014052,17108328,18032517,17290396,17289840,16880396,16723738,16501101,16498080,16263766,16189514,15916959,15911768,15778375,15489334,15182197,12952941,12646615,12644451,12621057,12477932,12421765,12086608,12010461,11742978,11591131,11583591,11247302,10910768,10887964,10593987,9812899,9571248,9256472,9200449,9013859,8491205,8257432,7788527,7569928,17108326,11222723,9882340,9400603,16139856,15020715,16116206,15611114,15647482 1173 NM_001025205,AC131235,CH471052,AK057883,BC004996,BC013796,BC014030,BI461415,BT007308,CR590191,CR590275,CR591964,CR592124,CR595581,CR597007,CR597271,CR599939,CR602053,CR603080,CR604155,CR605056,CR605468,CR606363,CR608244,NM_004068,CR609312,CR610909,CR615014,CR615224,CR619838,CR620955,CR621554,D63475,U36188 NP_004059,NP_001020376,EAW78290,EAW78291,EAW78292,AAH04996,AAH13796,AAH14030,AAP35972,BAA09762,AAA93254,Q96CW1,ABM83802,ABM86841 Hs.518460 GDB:1220258 AP50|CLAPM1|mu2 protein-coding 732482 AP2S1 adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing has been observed in this gene and results in two known transcripts. 1580863,737778 10753805,9040778,16103193,2014052,15489334,12477932,12086608,9767099,7593184,2495531,2040623,17108326,9882340,16139856,15020715,17353931,16189514 737778 1175 NM_021575,NM_004069,AC008622,AC098794,CH471126,AJ010148,AJ010149,BC006337,BF970609,BQ684675,BU564736,CR606916,CR609682,CR610430,H46780,X97074 NP_067586,NP_004060,EAW57448,EAW57449,CAA09018,CAA09019,AAH06337,CAA65782,P53680 Hs.119591 GDB:1220202 AP17|AP17-DELTA|CLAPS2 protein-coding 1321051 AP3B1 adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. 1580863,1578409 17353931,9931340,9151686,18000860,17569884,17081983,16551969,16537806,16112646,15489334,12477932,12125811,12062430,11877451,11861280,11809908,10024875,9373149,9182526,8413179,8125298,16189514,14657250,9545220 1578409 8546 NM_003664,NG_007268,AC024568,AC024578,AC104108,AC112197,AF247736,CH471084,AK225908,AK291201,AL708147,AY623424,BC020230,BC038444,BX538041,U81504,U91931 NP_003655,AAG01739,EAW95811,EAW95812,EAW95813,BAF83890,AAT49048,AAH38444,CAD97982,AAB61638,AAD03778,O00203,Q3MNE1,ABM85841,ABW03740 Hs.532091 GDB:9955590 ADTB3|ADTB3A|HPS|HPS2|PE protein-coding 1319021 AP3B2 adaptor-related protein complex 3, beta 2 subunit Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM] 1580863 7671305,17453999,16788073,15489334,14702039,12565890,12477932,10930456,9707615,9545220,9118953,1851215 8120 NM_004644,AC105339,CH471188,AF022152,AK097827,BC008350,BC026700,BC035640,BC093739,BI914720,CR749860,DQ092369,U37673 NP_004635,EAW62447,AAB71894,AAH93739,CAH18704,AAZ38147,AAC50219,Q13367,Q68CN5 Hs.199593 GDB:9954533 DKFZp686D17136|NAPTB protein-coding 1318559 AP3D1 adaptor-related protein complex 3, delta 1 subunit AP3D1 is a subunit of the AP3 adaptor-like complex, which is not associated with clathrin. The AP3D1 subunit is implicated in intracellular biogenesis and trafficking of pigment granules and possibly platelet dense granules and neurotransmitter vesicles.[supplied by OMIM] 1580863 9303295,9151686,18034776,17081983,16457822,16162817,15766529,15489334,15469849,15057824,14702039,14657250,12967569,12853575,12477932,11926829,11331585,10559961,9697856,9482728,15681409,12486136,10814565,16189514 8943 CH471139,AB208804,AF002163,AF130042,AK094460,AK128692,AY954498,BC005142,BC010065,BC022837,BQ227203,U91930,NM_003938,AC005257,AC005328,AC005545,NM_001077523 AAC34214,EAW69412,EAW69416,BAD92041,AAC51761,AAG35473,BAC87574,AAH05142,AAH10065,AAD03777,O14617,Q6PK82,Q6ZQV9,Q9UEA9,Q9UEB0,NP_001070991,NP_003929,AAC25623,AAC27670,AAC34212 Hs.512815 GDB:9957927 ADTD|hBLVR protein-coding 734238 AP3M1 adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. 1580863 10024875,15489334,15342556,14702039,12477932,11827452,11742978,11071902,10737800,9794796,9714600,9482728,8889548,15681409,11463741,10814565,12853575 26985 NM_012095,NM_207012,AL731576,CH471083,AF092092,AI610802,AK001565,AK026983,AL133610,AL833820,AV722897,AW069033,BC026232,BC067127,BE706537,BM463185,BP230128,BU172918,BU430175,BU679701,CR603917,CR618570 NP_036227,NP_996895,CAI39670,EAW54552,EAW54553,EAW54554,AAD20446,BAB15614,CAD38682,AAH26232,AAH67127,Q8NDP0,Q9H5L2,Q9Y2T2,ABM84038,ABM87385,ABW03569 Hs.500104 GDB:10013490 MGC22164 adaptor-related protein complex ap-3, mu 1 subunit protein-coding 735940 AP3M2 adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. 1580863 17293072,15489334,12477932,8076832,7601449,1602151,9400603 10947 NM_006803,AC103724,CH471080,BC021966,BC056257,BC056398,BX648354,BX648390,CR608528,CR610500,D38293 NP_006794,EAW63236,EAW63237,EAW63238,AAH56257,AAH56398,BAA07415,P53677,Q7Z472 Hs.654529 GDB:5512161 AP47B|CLA20|P47B protein-coding 1322400 AP3S1 adaptor-related protein complex 3, sigma 1 subunit 1580863 9118953,9792713,8697810,15489334,15469849,14702039,14657250,12967569,12477932,12370188,9151686 1176 BX647735,CR450341,CR591574,CR595287,CR596799,CR599187,CR601773,CR604745,CR612748,CR614149,CR615273,CR623389,D63643,U91932,X99458,NM_001284,AC010282,AC026449,CH471086,AK124911,AK126876,BC000804,BC012614,BI600357,BT009833 AAP88835,CAG29337,BAA09798,AAD03779,CAA67823,Q53XL4,Q92572,ABM82124,ABM85307,NP_001275,EAW48952,EAW48953,AAH00804 Hs.406191 GDB:1220203 CLAPS3|Sigma3A protein-coding 1350010 AP3S2 adaptor-related protein complex 3, sigma 2 subunit 1580863 9118953,15489334,15469849,14702039,12967569,12477932,12019270,11907283,9373149,9182526,8125298,16189514,14657250 10239 NM_005829,AC018988,AC027176,CH471101,AK000495,AK222698,AL110103,AL110108,BC002785,BC007773,BC010020,CR597548,CR601620,CR607297,CR617364,CR622596,X99459 NP_005820,EAX02071,EAX02072,EAX02073,EAX02074,EAX02075,BAD96418,AAH02785,AAH07773,AAH10020,CAA67824,P59780,Q53H83,Q6PK37,ABM83908,ABM87229 Hs.632161 GDB:9955793 AP3S3|FLJ35955|sigma3b protein-coding 1321485 AP4B1 adaptor-related protein complex 4, beta 1 subunit The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1; MIM 607244), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1; MIM 607243).[supplied by OMIM] 1580863 17353931,10066790,16710414,15489334,14702039,12477932,12419313,11409905,10436028,16189514 10717 NM_006594,AL137856,CH471122,AB209817,AF092094,AK001045,AK057567,AK093740,BC014146,DC367373,DC390197 NP_006585,CAI19071,CAI19072,CAI19073,CAI19074,CAI19075,EAW56578,EAW56579,EAW56580,EAW56581,BAD93054,AAD20448,AAH14146,Q5TBC3,Q9Y6B7 Hs.515048 GDB:9958206 BETA-4 protein-coding 1343936 AP4E1 adaptor-related protein complex 4, epsilon 1 subunit The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1; MIM 607245) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1; MIM 607243).[supplied by OMIM] 1580863 15489334,12477932,11707398,11409905,10436028,10066790 23431 NM_007347,AC021752,AC022407,AC073964,CH471082,AB030653,AF155156,AL355694,BC015224,BC040044,BC040045,BC126308,BC130466,CR627314,CR749604 NP_031373,EAW77411,BAA82969,AAD43326,AAI26309,AAI30467,CAH18399,Q68D31,Q9UPM8 Hs.413366 GDB:9956552 DKFZp686L12167 protein-coding 1321015 AP4M1 adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. 1580863 10066790,18341993,14702039,12690205,12477932,11802162,11707398,11139587,10436028,9794796,9013859 9179 NM_004722,AC073842,CH236956,CH471091,AF020796,AF155158,AK055686,BC012023,BC018705,BX640759,CR590642,CR595500,CR611943,CR621800,CR625474,CR625655,DC413622,Y08387 NP_004713,EAL23854,EAW76594,EAW76595,EAW76597,AAD25869,AAD43328,EAW76596,AAH18705,CAE45865,CAA69667,O00189,Q6N009 Hs.632317 GDB:9955178 MU-4|MU-ARP2 protein-coding 1348189 AP4S1 adaptor-related protein complex 4, sigma 1 subunit The heterotetrameric adaptor protein (AP) complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 (AP4B1; MIM 607245) and epsilon-4 (AP4E1; MIM 607244), a medium chain, mu-4 (AP4M1; MIM 602296), and a small chain, sigma-4 (AP4S1).[supplied by OMIM] 1580863 10436028,14702039,12477932,10066790 11154 NM_007077,AL121808,CH471078,AB030654,AF155159,AK056928,BC001259,BC035622,BT006701,BX247969,CR457100,CR592542,CR606567,CR606742 NP_009008,EAW65953,EAW65954,EAW65955,EAW65956,EAW65957,EAW65958,BAA82970,AAD43329,AAH01259,AAP35347,CAD62307,CAG33381,Q6IAQ4,Q86U36,Q9BVE7,Q9Y587,ABM81633,ABM84817 Hs.293411 GDB:9956971 AP47B|CLA20|CLAPS4|FLJ32366 protein-coding 733293 APAF1 apoptotic peptidase activating factor 1 This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. 1580863,704404 15009102,10383829,9267021,10949025,9753320,10441496,9390557,9922454,18439902,18093951,18042457,17885667,17882496,17876870,17603079,17541304,17534194,17361096,17348858,17133271,17081983,16951219,16595687,16420245,16331630,16232302,16231040,16098052,16046141,15972851,15863166,15832175,15832174,15703181,15692060,15649154,15590702,15378005,15305193,15262985,15033720,15026369,14993223,14747474,14566819,12963020,12804598,12637514,12615903,12168954,12149244,12147322,12021264,11864614,11550094,11457460,11389439,11230124,11113115,10934467,10764728,10722681,10702682,10578182,10543941,10486928,10393175,10376594,10364241,10322433,10206961,9878060,9837928,9829980,9651578,9539746,9488720,9455477,15103018,15829969 317 NM_181861,NM_181868,NM_181869,NM_013229,NM_001160,AB070829,AC011248,AC013283,AJ133643,AJ133644,AJ133645,CH471054,AB007873,AB103079,AF013263,AF134397,AF149794,AF248734,AJ243003,AJ243004,AJ243005,AJ243006,AJ243007,AJ243008,AJ243009,AJ243010,AJ243011,AJ243048,AJ243107,BC150255,EF560718 NP_863651,NP_863658,NP_863659,NP_037361,NP_001151,CAB65085,CAB65086,CAB65087,EAW97603,EAW97604,EAW97605,EAW97606,EAW97607,EAW97608,EAW97609,EAW97610,EAW97611,BAA24843,BAC77343,AAC51678,AAD38344,AAD34016,AAK28401,CAB55579,CAB55580,CAB55581,CAB55582,CAB55583,CAB55584,CAB55585,CAB55586,CAB55587,CAB55588,CAB56462,AAI50256,ABQ59028,O14727 Hs.708112 GDB:9798394 CED4|DKFZp781B1145 apoptotic protease activating factor 1 protein-coding 732461 APBA1 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilises APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. 1300048,704404,1580863 8887653,9822620,9753324,9614075,16413130,15699037,15563604,15024025,14970211,14960569,14756819,12970358,12849748,12514209,12196555,12177192,12093160,12016213,12006486,11115513,11083918,11036064,11010978,10455105,9952408,9585438,9395480,9321393,7719031,7678331,7545337,1968060 320 Q02410 NM_001163,AL162412,AL162421,AL353693,AL355140,CH471089,Z32676,AF029106,AF047347,L04953 NP_001154,CAH74104,CAI15443,EAW62486,EAW62487,AAC05304,AAC39766,AAA61307,Q02410 Hs.592974 GDB:6277905 D9S411E|MINT1|X11|X11A|X11ALPHA protein-coding 733396 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like) The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adaptor protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilises APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. 704404,1580863 9585438,9395480,9110174,8955346,8619474,7545337,10833507,9890987,15699037,15563604,15345747,14970211,12972431,12780348,12720574,12477932,11083918,11036064,10827173,10777610,10336668,9860131,9822620,9614075 321 NM_005503,AC024474,AC127522,CH471205,AB014719,AB209281,AF029108,AF047348,AK124794,BC007794,BC082986,CR604096,U79255 NP_005494,EAW51516,BAA34734,BAD92518,AAC05306,AAC39767,BAC85951,AAH82986,AAB50203,Q59G28,Q5XKC0,Q6ZVB1,Q99767 Hs.618112 GDB:6277907 D15S1518E|HsT16821|LIN-10|MGC99508|MGC:14091|MINT2|X11L protein-coding 737449 APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2) The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. 1580863 10049767,15494376,15489334,15057824,14990567,12477932,11831025,11440799,10574372,9860131,9241420,8889548 9546 AB023431,AB024411,AC005954,CH471139,AB021638,AB209603,AF029110,BC008338,BC086306,BG938716,BI910038,BM977984,NM_004886,BQ707748,CR623670 NP_004877,BAA83094,BAA83517,AAC72275,EAW69290,EAW69291,BAA74430,BAD92840,AAC17979,AAH86306,O96018,Q59F58,Q9UPY9,Q9UPZ2 Hs.25527,Hs.465607 GDB:9957312 MGC:15815|X11L2|mint3 protein-coding 1349313 APBB1 amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants have been described for this gene but some of their full length sequence is not known. 1580863 8955346,8887653,16189514,11115513,9837937,9738440,9799084,9685356,9585438,9461550,9407065,9045663,10561691,10075692,17368826,16713569,16332686,16223726,15816856,15647266,15489334,15146195,15044485,15037614,14572442,14569203,12888553,12779321,12727304,12653567,12477932,12150997,12089154,11854179,11741599,11606623,11517249,11441186,11279131,11095528,11085987,10945997,8894693,12843239,17512906 322 NM_145689,NM_001164,AC068733,AC084337,AF029233,AF029234,AF047835,CH471064,AF394214,BC010854,BX538185,CR596180,CR606715,EF103274,L77864 NP_663722,NP_001155,AAC79942,EAW68722,EAW68723,EAW68724,EAW68725,AAL79526,AAH10854,CAD98057,ABL07489,AAB93631,O00213,Q7Z324,Q8TEY4,ABM81923,ABM85101 Hs.372840 GDB:5952607 FE65|MGC:9072|RIR protein-coding 1312445 APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 1580863 17373700,15642358,15489334,15469846,15164054,14530287,12477932,9407065 54518 NM_019043,AL160287,AL355798,CH471072,AB085852,AK000812,AY152730,BC035636,BC054516,BM150270,BM556115,CR597342 NP_061916,EAW86095,EAW86096,EAW86097,EAW86098,EAW86099,BAC41256,BAA91384,AAN75525,AAH35636,AAH54516,Q7Z5R6,Q8IYL7,Q9NWJ6 Hs.310421 INAG1|PREL1|RARP1|RIAM protein-coding 1342475 APBB2 amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. 1580863 8855266,17567906,16083851,15714520,15489334,14527950,12477932,12089154,9585438,8955346,16189514 323 NM_173075,AC093804,AC096712,AC108937,AC131953,CH471069,AK024871,AK226179,AK289838,AL596608,AL600779,BC027946,BC088372,BM546260,CF552608,CR607261,CR620312 NP_775098,EAW92975,EAW92976,EAW92977,BAF82527,AAH27946,AAH88372,Q5I0G1,Q92870,ABM82479,ABM85666 Hs.479602 GDB:6278609 FE65L|FE65L1|MGC35575 protein-coding 733384 APBB3 amyloid beta (A4) precursor protein-binding, family B, member 3 The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. 10081969,15489334,14702039,14527950,12477932,12153398,10329396,9407065,16189514 10307 NM_133172,NM_133174,NM_006051,NM_133173,AB024745,AC005214,AC011399,CH471062,CQ783896,AB018247,AB049618,AB061224,AB079687,AB094990,AB209839,AF224708,AF224709,AF224710,AF224711,AK074885,AK075280,AK125244,BC013158,BC125187,BF448559 Q96DX9,Q96Q18,Q9BYD4,NP_573420,NP_006042,NP_573419,BAA78674,NP_573418,EAW62041,EAW62042,EAW62043,EAW62044,EAW62045,EAW62046,EAW62047,EAW62048,EAW62049,EAW62050,CAF86913,BAA35188,BAB40806,BAB71767,BAC56948,BAC22578,BAD93076,AAF65172,AAF65173,AAF65174,AAF65175,AAH13158,AAI25188,O95704,Q54A46,Q59EH2,Q86Z13 Hs.529449 FE65L2|MGC150555|MGC87674|SRA protein-coding 736624 APC adenomatous polyposis coli This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. 734579,1331525,1580863,2293188 11129339,11076863,11050185,11029657,10982189,10966653,10947987,10926498,10811618,10782927,10749862,10666372,10470088,10426194,10188731,9973276,9950360,9811605,9731533,9731522,9724771,9660858,9637688,9419979,9375853,9326658,9286858,15929773,15833136,15832580,15824157,15821699,15768050,15761860,15755874,15754020,15733272,15689459,15640937,15639864,15591320,15561772,15548520,15542524,15540296,15523694,15520370,15507235,15459959,15446460,15375803,15355978,15331612,15326380,15273719,15266213,15257316,15251938,15190067,15133491,15122587,15108288,15040027,15020226,14991743,14961559,14871261,14729851,14691304,14679305,14672538,14662741,14624392,14579148,14578138,14578136,14574158,14573780,14520463,14514668,12907646,12901799,12856637,12800196,12800081,12737446,12655564,12647217,12606575,12584179,12581900,12575848,12538344,12537656,12508668,12504226,12485844,12477932,12439748,12388762,12387883,12378616,12374230,12173321,12173026,12163385,15943410,16843107,16820884,16804979,16798748,16763565,16710723,16699861,16699180,16680592,16650078,16619216,16569251,16545110,16537703,16525027,16461775,16450383,16433700,16426911,16423286,16411234,16407829,16382042,16356174,16344560,16322291,16228836,16201232,16184469,16163548,16142311,16088911,16030254,15981102,15959913,15951963,12124804,12093899,12070164,12057910,12045208,12034871,11956815,11933206,11921277,11920497,11912492,11891193,11868006,11856748,11809682,11809680,11768390,11768389,11754114,11751382,11748858,11741105,11720476,11707392,11696170,11668620,11606402,11584047,11535846,11487578,11487538,11483640,11470413,11466700,11409872,11389840,11354631,11297546,11241666,11241320,11221825,11159880,11157977,12136240,11533658,8259518,11166179,16188939,11972058,11283619,9601641,11035805,8521819,14728717,12955080,11955436,12000790,12820959,15327769,16753179,12072559,18433509,18375958,18343606,18337602,18321998,18265644,18224684,18199528,18166348,18160396,18091433,18066497,18063416,18058812,18027849,17968317,17964080,17963004,17960617,17954272,17952864,17947477,17920230,17910481,17905526,17882487,17854661,17653897,17620292,17572842,17569124,17558858,17556698,17506007,17505512,17489848,17486639,17454753,17418091,17411426,17410430,17368237,17360132,17297457,17255093,17252231,17227893,17221838,17192415,17189293,17176113,17143620,17143298,17135276,17126424,17119068,17116713,17081983,17080006,17039269,17028196,16981189,16964243,16951153,16855398,9188857,9110174,8990002,8940264,8889548,8638126,8638125,8619474,8383094,8259519,8252630,8111410,7833931,7833149,7744883,7661930,3789010,2797819,1678319,1651563,1651562,1338904,1338764,1338691,1310068,7606712,9734785,10951583,11585828,11348595,11136974,9298899,8074697,7651399,11251183,15778465,12628243,11712088,8389242,15572129,15525529,15294866 734579,1331525,2293188 324 NM_000038,NM_001127510,NM_001127511,AC008575,AC136500,AF127506,AF297219,AY682982,AY900441,AY925197,S78214,AB210001,AF038181,AI492038,AK289567,BC034955,BC056268,BE047584,BF112110,BG548363,BM271918,BM713901,BM975470,CA313732,DA777787,DA795663,M73548,M74088,S67787,S67788 NP_000029,NP_001120982,NP_001120983,AAF34355,AAG25599,AAT81590,AAW82777,AAX07544,AAB21145,BAE06083,BAF82256,AAH56268,AAA60353,AAA60354,AAA03586,AAD13997,AAD13998,P25054,Q16097,Q4LE70,Q5EBR9,Q5EEK4,Q6B4H6,Q7Z2Q8,Q9HAW6,Q9P119,Q9UM98,AAI11463,AAI11592,AAI11931 Hs.158932 GDB:119682 BTPS2|DP2|DP2.5|DP3|GS adenomatosis polyposis coli protein-coding 1317926 APC2 adenomatosis polyposis coli 2 1580863 9823329,18157572,12477932,11691822,10644998,10021369,12956947 10297 AB022529,AC027307,AF110335,AF110337,AF110338,AJ131187,CH471139,AB012162,AF110334,AF128222,NM_005883,AJ012652,AL078616,BC020381,BC032573,CR600190 NP_005874,BAA75469,AAD29273,AAD29274,AAD29275,CAA10317,EAW69496,EAW69497,EAW69498,BAA34611,AAD28183,AAF01784,CAB61207,AAH32573,O95996,Q9UNL8 Hs.446376 APCL protein-coding 1351282 APCDD1 adenomatosis polyposis coli down-regulated 1 1580863 15498874,15489334,12477932,12384519 147495 NM_153000,AP001099,CH471113,CQ756578,AB056722,AB104887,AF461902,BC053324,CR592932 NP_694545,EAX01585,EAX01586,CAF32599,BAC15563,BAC65165,AAQ04816,AAH53324,Q8J025 Hs.293274 GDB:11508796 B7323|DRAPC1|FP7019 protein-coding 1605849 APCDD1L adenomatosis polyposis coli down-regulated 1-like 16303743,15489334,15465500,14702039,12477932,11780052 164284 NM_153360,AL118513,CH471077,CQ782621,AK074647,BC101758,BC101760 NP_699191,CAI22411,EAW75491,EAW75492,CAF85886,BAC11111,AAI01759,AAI01761,Q8NCL9 Hs.119286 FLJ90166|MGC126807|MGC126809|RP4-685L9.2 protein-coding 68444 APCS amyloid P component, serum The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. This gene has multiple polyadenylation sites. 1300286,1580863 10812074,2987268,10972085,14718574,17530641,17138933,16784490,16710414,16643876,16335952,15837583,15649951,15489334,15174148,15031287,14607961,14519527,14500533,12767937,12528126,12477932,12432394,12126626,12100475,12015594,11984001,11441067,11359830,10631319,9217261,8999915,8662978,8417122,8202534,8144569,8114934,7592941,4055725,3915434,16189514,1477104,81686,3759147,3211159,3172210,3029048,1602151 1300286 325 X04608,NM_001639,AL445528,CH471121,D00097,BC007039,BC007058,BC070178,BT006750,CR450313,M10944 CAA28275,P02743,NP_001630,CAH73651,EAW52781,BAA00060,AAH07039,AAH07058,AAH70178,AAP35396,CAG29309,AAA60302 Hs.507080 GDB:118999 MGC88159|PTX2|SAP serum amyloid p-component protein-coding 735668 APEH N-acylaminoacyl-peptide hydrolase This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. 1580863 2006156,16189514,15862967,12477932,12000146,11921441,10719179,10407158,8724851,8411161,2565880,2392324,1521574 327 P13798 NM_001640,AC099668,CH471055,AF141383,BC000362,BC001499,BC001826,CR605044,CR618744,D38441 NP_001631,EAW64994,EAW64995,EAW64996,EAW64997,EAW64998,AAF37321,AAH00362,AAH01499,AAH01826,BAA07476,P13798,ABM82344,ABM85518 Hs.517969 GDB:127917 ACPH|APH|D3F15S2|D3S48E|DNF15S2|MGC2178|OPH protein-coding 1606343 APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. 18478337,18357393,18353858,18324520,18208837,18206643,18091433,18053222,18042731,18025089,17991492,17984110,17974506,17949784,17938202,17922186,17898541,17855454,17685223,17630376,17614107,17599408,17567611,17567600,17555083,17531525,17515960,17479230,17374727,17355977,17332344,17324338,17283177,17272283,17230526,17222938,17218168,17203305,17197435,17177211,17126083,17040931,17034901,17028303,16982113,16973282,16966185,18482781,16962936,15107486,15084314,15044328,14767913,14730972,14704345,14643949,14633989,14630715,14625810,14599768,14594818,14581338,14521941,12966083,12933815,12860125,12857737,12842873,12628186,12624104,12569263,12555094,12547389,12519758,12480540,12477932,12384995,12242029,12237116,12231548,12230304,12200445,12161506,12110916,12058277,11895912,11866537,11846302,11809897,11707423,11705870,11601988,11452037,11182545,11133992,11118054,11096142,11092888,11084372,11073998,10946230,10667800,10629618,10594042,10585464,10023679,9870152,9361024,9351835,9110174,16956909,16889694,16844323,16621887,16609022,16554306,16537925,16492928,16481390,16481227,16425270,16406883,16356936,16284386,16221808,16195237,16147991,16000577,15942031,15887293,15878096,15831793,15824742,15824325,15816625,15746160,15731342,15706084,15694346,15674341,15644200,15635413,15592455,15489334,15472121,15459284,15380100,15362040,15333465,15316562,15247342,15210853,15113441,11286553,9119221,1722334,12524539,7961715,10805771,1380454,9207062,10559261,11250913,9108029,8942627,8932375,8621488,8619474,8086453,1719477,1627644,1383925,1380694,1371347,1284593,16189514 328 NM_001641,NM_080649,NM_080648,AF488551,AL355075,CH471078,D13370,M92444,M99703,X66133,AK098588,AK291100,BC002338,BC004979,BC008145,BC019291,BC095428,BT007236,BT020133,BX161454,CR593576,CR594100,CR594913,CR595578,CR597601,CR599111,CR603451,CR603476,CR603764,CR605079,CR605968,CR607088,CR608824,CR609502,CR610342,CR611116,CR611978,CR613058,CR617692,CR618727,CR620565,CR622630,CR623328,D90373,M80261,M81955,S43127,U79268,X59764 NP_001632,NP_542380,NP_542379,AAL86909,EAW66464,EAW66463,EAW66465,EAW66466,EAW66467,EAW66468,BAA02633,AAA58629,AAA58373,CAA46925,BAF83789,AAH02338,AAH04979,AAH08145,AAH19291,AAH95428,AAP35900,AAV38935,CAD61917,BAA14381,AAA58371,AAA58372,AAB22977,AAB50212,CAA42437,P27695,Q5TZP7,ABM82740,ABM85924 Hs.73722 GDB:437586 APE|APE-1|APE1|APEN|APEX|APX|HAP1|REF-1|REF1 protein-coding 1350631 APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair (BER). 1580863 16687656,16189514,15772651,15489334,12477932,11866537,11376153 27301 NM_014481,AL020991,AY884244,CH471154,AB021260,AB049211,AF119046,AJ011311,BC002959,BI837686,CR595088,CR596927,CR605254,CR612334,CR617388,CR622468 NP_055296,CAI43126,AAW56941,EAW93208,EAW93209,EAW93210,BAA78422,BAB13764,AAD43041,CAB45242,AAH02959,Q9UBZ4,ABM84595,ABM86482 Hs.659558 GDB:11509990 APE2|APEXL2|XTH2 protein-coding 1349695 APH1A anterior pharynx defective 1 homolog A (C. elegans) APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311) and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. The gamma-secretase complex is required for the intramembrane proteolysis of a number of membrane proteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM 190198).[supplied by OMIM] 12297508,15274632,17059559,16757808,16344560,16303743,15629423,15489334,15322084,15286082,15210705,14702039,14627705,14593096,12975309,12972157,12917438,12763021,12740439,12679784,12522139,12477932,12471034,12110170,10810093,16189514,14572442,15257293,12857757,15322109 51107 NM_001077628,AL138795,CH471121,CQ783433,AF151835,AF508787,AK027879,AK075295,AK075452,AK125685,AY113698,AY113699,AY358951,BC001230,NM_016022,BC008732,BC009501,BC015568,BC017699,BC020590,BC068606,BI760743,CR590583,CR591178,CR591331,CR594282,CR594321,CR596144,CR597912,CR601650,CR603099,CR605320,CR607278,CR609243,CR609659,CR609960,CR610823,CR612872,CR613868,CR615087,CR618014,CR626054,CR626391,CR626622,CR626805,DA589586 NP_057106,NP_001071096,CAI22811,CAI22812,CAI22813,EAW53565,EAW53566,EAW53567,CAF86638,AAD34072,AAN63816,BAC11529,AAM61955,AAM61956,AAQ89310,AAH01230,AAH08732,AAH09501,AAH15568,AAH17699,AAH20590,Q5TB22,Q5TB23,Q96BI3 Hs.108408 6530402N02Rik|APH-1A|CGI-78 protein-coding 1344589 APH1B anterior pharynx defective 1 homolog B (C. elegans) APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311) and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. The gamma-secretase complex is required for the intramembrane proteolysis of a number of membrane proteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM 190198).[supplied by OMIM] 12297508,11256614,17466415,16757808,16381901,15823552,15629423,15591316,15489336,15489334,15286082,12975309,12763021,12740439,12477932,12471034,12110170,11230166,11076863 83464 AC016207,CH471082,AA808355,AB189172,AB197122,AF508794,AK291204,AL136671,AY358698,BC020905,BI825203,NM_031301 NP_112591,EAW77644,EAW77645,BAD95573,BAE02660,AAN63817,BAF83893,CAB66606,AAQ89061,AAH20905,Q0JUQ5,Q4R1J8,Q564N3,Q8WW43,CAL37602,CAL37756,ABM82327 Hs.511703 APH-1B|DKFZp564D0372|PRO1328|PSFL|TAAV688 protein-coding 1320288 API5 apoptosis inhibitor 5 1643340 11075807,9307294,10780674,11555636,17112319,17081983,16083285,15635413,15489334,12703993,12477932,10393420 1643340 8539 NM_006595,AC087276,AY265973,CH471064,AF229253,AF229254,AY311389,BC015898,BC017709,BM193468,BT007093,CR593210,CR598402,U83857,Y15906 NP_006586,AAO89077,EAW68098,EAW68099,AAK00737,AAK00738,AAQ76714,AAH17709,AAP35756,AAB86528,CAA75867,Q9BZZ5,ABM81597,ABM84778 Hs.435771 GDB:9865682 AAC-11|AAC11|API5L1 protein-coding 1603043 APIP APAF1 interacting protein 16189514,16344560,15489334,15262985,12477932,10810093,9373149,8125298,14743216 51074 NM_015957,AC107928,CH471064,AF088034,AF132963,AK225249,AK226157,AK292648,BC008440,BC009077,BC017594,CR598872,CR599175,CR618871,CR621391,DA729016 NP_057041,EAW68161,AAD27738,BAF85337,AAH08440,AAH09077,AAH17594,Q96GX9 Hs.447794 APIP2|CGI-29|MMRP19|dJ179L10.2 protein-coding 1602808 APITD1 apoptosis-inducing, TAF9-like domain 1 This gene was identified in the neuroblastoma tumour suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumours, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. Alternative splicing of this gene results in multiple transcript variants. 17962439,16622420,16622419,15328517,12477932,11329013,8889548 378708 NM_198544,NM_199294,NM_199295,AL139424,AL354956,CH471130,AF516753,AF521016,BC029430,BG213105,BG546364,BM905996,BU902753,CA311915,CR593315,CR593499 NP_940946,NP_954988,NP_954992,EAW71651,EAW71654,AAM61954,AAM70482,AAH29430,Q8N2Z9 Hs.412311 CENP-S|CENPS|MGC32686 protein-coding 1351986 APLN apelin Apelin is a neuropeptide expressed in the supraoptic and paraventricular nuclei that acts on specific receptors located on vasopressinergic neurons (De Mota et al., 2004) [PubMed 15231996].[supplied by OMIM] 632245,632246,1304466,1580863,1626175,1626176,1626170,1626174,1626186,1626173,1626171,1600932,1626177 9792798,18401529,18272843,17906101,17826642,17823846,17412318,17177135,17128405,17060400,16723381,16563531,16115460,15772651,15677759,15664671,15489334,15231996,14702039,12975309,12963638,12914775,12798955,12603839,12477932,11090199,10617103,11040134,16189514,10525157 632245,632246,1304466,1626175,1626176,1626170,1626174,1626186,1626173,1626171,1600932,1626177 8862 NM_017413,AF179680,AL022162,CH471107,AB023493,AF086248,AK001855,AY358657,BC021104 NP_059109,AAF25815,CAI95697,EAX11828,EAX11829,BAA84975,BAA91944,AAQ89020,AAH21104,Q6UWT3,Q9NV16,Q9ULZ1,ABM83051,ABM86244 Hs.303084 XNPEP2 protein-coding 733537 APLNR apelin receptor There are at least two distinct receptor subtypes of angiotensin II: angiotensin II receptor, type 1 (AGTR1) and angiotensin II receptor, type 2 (AGTR2). Most of the effects of angiotensin II are mediated by the AGTR1 receptor. This gene is related to the AGTR1 gene by sequence similarity. It was cloned based on a conserved transmembrane domain found in members of the G protein-coupled receptor (GPCR) gene family. 1580863,1304466 9792798,8294032,18401529,17826642,17412318,17309882,17128405,16303743,15664671,15489334,15087458,14702039,14675627,14645236,14622440,12667811,12603839,12477932,11250876,11004481,10737800,8971794,8889548,11040134,9736741,9653051,16189514 1304466 187 NM_005161,AP001786,CH471076,U03642,AK074514,AK075252,AK097232,AL548962,BC032688,BI004477,BM698661,BX439288,CR605634,X89271 NP_005152,EAW73730,AAA18954,BAC11032,AAH32688,CAA61546,P35414,Q8N2R3,ABM81770,ABW03307 Hs.438311 GDB:364121 AGTRL1|APJ|FLJ90771|MGC45246 angiotensin II receptor-like 1|angiotensin receptor-like 1 protein-coding 736696 APLP1 amyloid beta (A4) precursor-like protein 1 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. 734581,1580863 14563850,16169070,9521588,16531006,16344553,15489334,15208260,15146195,14970212,14702039,14699153,14597230,12779321,12477932,12228233,12135352,10578233,10460257,9890987,9729270,9428684,8894693,8432545,7929392,7494461,16189514 734581 333 NM_001024807,NM_005166,AD000864,AK092376,AK126907,BC012889,BC013850,BC032983,BQ219233,EF036503,U48437 NP_001019978,NP_005157,AAB50173,BAC86746,AAH12889,ABO65089,AAB96331,P51693,Q6ZT48,ABM82267,ABM85449 Hs.74565 GDB:132613 APLP protein-coding 731852 APLP2 amyloid beta (A4) precursor-like protein 2 1580863,734582 15208260,15146195,14970212,14702039,14699153,14597230,12595709,12499552,12477932,12372026,12228233,11443060,10702673,10490823,10460257,10081969,9556595,9461550,9373149,9109675,7702756,8855266,8220435,8485127,17452623,17405931,16645641,16279945,15584916,15489334,8894693,8125298,8020984,7929392,7539437,15778465,11746496,16189514 734582 334 L19597,L23113,L23114,L27631,S60099,Z22572,NM_001642,AB015751,AP001183,AP003041,CH471065,AF168956,AK056883,AK122834,AK124457,AK128162,AK225283,BC000373,BC004371,BX647107,L09209 AAA35526,AAA35601,AAA36032,AAA36130,AAC41701,AAC60589,CAA80295,Q06481,Q9UED0,ABW03750,ABW03428,NP_001633,BAA34958,EAW67768,EAW67769,EAW67770,EAW67771,EAW67772,EAW67773,EAW67774,AAD47291,AAH00373,AAH04371 Hs.370247 GDB:139159 APPH|APPL2|CDEBP protein-coding 735962 APOA1 apolipoprotein A-I This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. 1578410,1599158,1599161,1600654,1331525,1601185,1601187,1601183,1601186,1601188,1580863,1578416,734583,1601184,1578442 11162594,14703508,12458630,17655203,14747463,12692552,4345202,18398670,18378026,18257091,18206649,18193043,18179799,18073484,18063807,17991432,17967773,17964293,17950741,17919884,17868679,17855807,17853951,17825930,17761633,17727676,17698072,17696931,17693625,16443932,11297421,15464323,8049247,4335615,12810715,12167653,12145244,12123106,12116231,12084722,12050338,12048121,12044583,12030900,12011770,12000358,11991719,11963567,11931574,11929608,11916081,11907138,11903341,11879189,11866932,11866037,11860752,11854286,11836686,11805090,11776109,11773045,17683612,15868628,15849246,15823278,15805548,15782489,15766290,15751988,15723520,15695525,15694942,15657615,15654128,15649902,15585206,15584908,15574409,15540281,15533931,15498766,15489334,15488874,15476409,15474503,15362856,15359539,15334687,15314690,15304365,15297675,15292375,15258834,15242863,15218078,15188057,15177130,15115711,15108119,15066991,15060083,15051721,15036610,15020600,15001567,11756058,11744719,11737222,11718686,11572515,11507973,11472750,11264435,11254757,11223438,11181747,11171287,11063469,11055796,10858436,10828089,10801839,10627502,10487826,10198255,10191289,10085035,9931341,9916936,9593801,9514407,9356442,9325276,9305883,9200714,9003180,8740847,8675681,8664326,14967052,14746139,14741338,14734645,14729861,14718574,14701824,14666619,14665416,14660648,14609337,14592845,14580163,14567398,14563824,14510906,12974138,12966036,12964943,12962772,12952980,12928428,12875674,12871600,12818417,12801612,12798568,12791946,12782148,12754559,12754494,12742997,12732844,12724319,12722515,12709430,12692252,12690114,12665801,12642784,12608057,12588323,12576517,12573451,12562854,12556235,12544508,12531890,12515395,12511593,14988232,14986172,12509922,12477932,12473160,12468059,12462973,12421824,12369845,12270762,12177172,12173940,17654446,17615385,17600344,17580958,17563120,17530866,17530370,17526499,17517342,17510466,17475009,17474718,17457002,17447731,17378725,17303779,17298957,17272829,17261136,17216278,17204472,17165100,17142127,17113061,17075859,17071967,17020879,16939214,16931800,16895799,16801176,16781717,16770077,16763159,16710093,16705465,16698792,16671566,16574896,16545386,16542392,16520487,16497665,16495141,16475830,16455106,16452169,16418537,16417409,16407233,16368749,16342934,16309370,16285990,16259956,16236546,16197951,16136540,16130094,16128586,16126721,16091367,16060677,16053196,16023124,16009332,16005460,16005451,16005361,15982502,15972827,15962178,15961173,15952766,15925353,15922294,15910632,15900219,15882068,8663389,8282791,8240372,7918609,7895732,7592581,6816269,6489332,6439535,6432779,6413973,6412234,6409108,6406984,6405383,6404278,6402711,6401735,6328445,6308458,6304641,6294659,6207999,6198645,3931073,3142880,3142462,3129297,3120314,3119665,3047170,3005308,2995392,2687158,2673706,2512329,2506184,2506176,2123470,2111322,2108924,2107878,1898657,1808634,1723385,1644835,1602151,1587806,1502149,1076467,204308,164450,17076584,16189514,11878923 1578410,1599158,1599161,1600654,1331525,1601185,1601187,1601183,1601186,1601188,1578416,734583,1601184,1578442 335 A14829,A15879,NM_000039,AF148963,AF485255,AP006216,AY422952,AY555191,CH471065,EF444948,J00098,J04066,X01038,X07496,AK292231,BC005380,BC110286,CR594974,CR602459,CR603689,CR604796,CR606088,CR611719,CR614893,CR616175,CR622099,CR623518,CR625742,M11791,M27875,M29068,X00566,X02162 CAA26097,P02647,Q6LEJ8,Q8TDB0,Q9UCT8,Q9Y355,CAA01198,CAA01253,ABM83999,ABM87329,NP_000030,AAD34604,AAL92035,AAQ91811,AAS68227,EAW67274,EAW67275,EAW67276,EAW67277,ACA05932,ACA05933,ACA05934,ACA05935,ACA05936,AAB59514,AAA51746,CAA25519,CAA30377,BAF84920,AAH05380,AAI10287,AAA35545,AAA62829,AAA51747,CAA25232 Hs.633003 GDB:119684 MGC117399 protein-coding 1312295 APOA1BP apolipoprotein A-I binding protein The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. 11991719,17521614,12477932 128240 NM_144772,AL365181,CH471121,AJ315849,BC056917,BC100931,BC100932,BC100933,BC100934,BG723681,BQ430064,CR593423,CR597550,CR606473,CR606563,CR620453 NP_658985,CAI13049,CAI13050,CAI13051,EAW52941,EAW52942,EAW52943,CAC86580,AAH56917,AAI00932,AAI00933,AAI00934,AAI00935,Q5T3I3,Q6PGN4,Q8NCW5 Hs.528320 GDB:11509992 AIBP|MGC119143|MGC119144|MGC119145 protein-coding 737360 APOA2 apolipoprotein A-II This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. 1599158,1599161,1300287,1601191,1601190,1580863,1578416 12642785,12576517,12562854,12522687,12477932,12269810,12136402,12136239,12116266,12116231,12032642,11971944,11714842,9469594,7518568,6816269,6789904,6438100,6433912,6428397,6407957,6328445,6315718,6090207,6089788,4344225,4338591,3935800,3136074,3088392,2995928,2989800,2415515,2414299,11162594,14967812,11991719,7918467,17264082,12458630,11551871,11591715,14988251,8245722,12692552,4345202,14718574,18269685,18179799,17923573,17709437,17652309,17446329,16990646,16710414,16407233,16368749,16254078,15922294,15833935,15489334,15388641,15247216,14650352,12959642,12738753,12690114,2107739,1908160,16189514 1599158,1599161,1300287,1601191,1601190,1578416 336 NM_001643,AL590714,AY100524,CH471121,X02619,X02905,X04898,BC005282,BT006786,CR605230,M29882,X00955 NP_001634,CAH72151,AAM49807,EAW52618,EAW52619,EAW52620,EAW52621,EAW52622,CAA26474,CAA26665,CAA28583,AAH05282,AAP35432,AAA51701,CAA25467,P02652,ABM83419,ABM86631 Hs.237658 GDB:119685 1643243 BW132_H protein-coding 737553 APOA4 apolipoprotein A-IV Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. 1578411,1331525,1580863,1578416,1578442 16945374,1935934,3080432,16781717,16770585,16763159,16710093,16651467,16602826,16338932,16326171,16321685,16120654,16105043,16030523,15962178,15928313,15910632,15868628,15864114,15823278,15806598,15764642,15721024,15649902,15559160,15489334,15488874,15359534,15311933,15304365,15258202,15252864,15175360,15108119,14751811,11940599,11162594,15254593,3095477,16159879,12692552,4345202,14718574,18193043,17964293,17855807,17825930,17712726,17654446,17457002,17378725,17261136,17206692,17130180,16929032,16788210,12962772,12860258,12777472,12697303,12691171,12676816,12664082,12556235,12495081,12477932,12417525,12220435,12121350,12116231,12082592,11952809,11941585,11841825,11592042,11583715,11472750,11254757,11181750,11108737,10069372,9988739,8956036,8688083,7728150,10391210,6706947,3931073,3755616,3611972,3095836,3036793,2930771,2351649,2331673,2216752,2065039,1973689,1737067,1677358,1487136,1349197 1578411,1331525,1578416,1578442 337 NM_000482,AP006216,AY422950,AY555191,CH471065,J02758,M14642,AL531739,BC074764,BC113594,BC113596,CR590456,CR594719,CR597467,CR599821,CR606375,CR624481,M10373,M13654,M14566,X13629 NP_000473,AAQ91809,AAS68228,EAW67271,AAA96731,AAA51745,AAH74764,AAI13595,AAI13597,AAB59516,AAA51744,AAA51748,CAA31955,P06727,Q13784 Hs.591940 GDB:119000 MGC142154|MGC142156 2289454 BW298_H protein-coding 736192 APOA5 apolipoprotein A-V The protein encoded by this gene is an apolipoprotein and an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. This gene uses alternate polyadenylation sites and is located proximal to the apolipoprotein gene cluster on chromosome 11q23. 631983,70662,1578411,1578414,1331525,1578412,1578416 17142127,17087641,17032446,16954607,16943456,16917759,18087544,18078817,18056685,17997385,17964293,17957227,17936576,17922432,17922054,17855807,17768309,17766366,17726453,17722232,17717288,17705673,17700364,17693622,17635078,17548323,17548321,17495607,17493548,17485571,17460328,17457003,17431185,17378725,17356049,17222847,17211608,17197160,17183147,16806135,15178420,15878877,17326667,12810715,11588264,15528295,11577099,18468520,18441017,18424353,18302531,18274806,18274205,18263854,18206649,18193043,18159097,17157483,16887900,16861622,16806226,16781717,16777114,16769999,16763159,16710093,16687148,16682041,16670016,16636175,16531747,16474174,16448983,16410456,16401313,16386743,16386723,16375582,16325772,16321685,16311097,16258166,16192625,16143024,16054149,16051671,16046221,16039297,16006256,15996212,15952115,15941721,15924804,15877284,15857156,15841042,15790933,15781255,15684402,15649902,15636639,15604515,15591215,15542401,15489334,15447887,15369751,15342688,15317819,15306190,15300628,15177130,15157276,15151505,15135251,15131258,15117734,15108119,15046561,14984471,14959997,14732475,14729863,14613578,12975309,12951359,12937897,12920097,12915450,12899628,12818421,12752569,12747596,12709436,12697303,12676816,12671030,12637506,12615678,12477932,12436249,12417525,12417524,12417270 631983,70662,1578411,1578414,1331525,1578412,1578416 116519 NM_052968,AP006216,AY422949,AY555191,CH471065,EF444949,AF202889,AF202890,AK292739,AY358749,BC101787,BC101789 NP_443200,AAQ91808,AAS68229,EAW67269,EAW67270,ACA05937,ACA05938,AAF25661,AAF25662,BAF85428,AAQ89109,AAI01788,AAI01790,Q6Q788 Hs.283923 GDB:11504403 APOA-V|APOAV|MGC126836|MGC126838|RAP3 protein-coding 735787 APOB apolipoprotein B (including Ag(x) antigen) This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. 1578415,1578417,1578418,1578419,1578425,1599164,1599165,1580998,1331525,1601202,1601197,1601200,1580863,1578416,1601198,1601203,1626106 17142622,17137217,17129575,17111197,17109403,17071710,17046772,17043676,17038630,17032131,17029200,16989840,16981218,16978902,16963757,16925469,16920700,16895799,16854991,16801348,16801176,16792510,16776623,16758614,16704977,16634094,16620782,16614317,16596945,16545386,16544732,16525840,16455106,16419488,16412386,15797858,2563166,7126555,8245722,221835,12692552,4345202,8300609,9548923,7853698,18393233,18354102,18296645,18279815,18258526,18254714,18222178,18193581,18193043,18187430,18160469,16389549,16386541,16335952,16316917,16203724,16201717,16159606,16156669,16152798,16136540,16030169,16015283,16007035,15918022,15904989,15890894,15867268,15856946,15830122,15823288,15823278,15795421,15790761,15701167,15699916,15653747,15637307,15630635,15630279,15618547,15616123,15614026,15591776,15585207,15561934,15543563,15504742,15489541,15477777,15469418,15453913,15358600,15355439,15321839,15321838,15321837,15258202,15256516,15254032,15242863,15223114,15207528,15186963,18078817,18067093,18028451,18027103,17964958,15111985,15102883,15076187,15047470,15028112,14967820,14967814,14763605,14760718,14746139,14732481,14726411,14718574,14706682,14618390,14567398,14550622,13130121,12964943,12942366,12901521,12895336,12872264,12850958,12818419,12778454,12774037,12760590,12760338,12752570,12736910,12713147,12691171,12670940,12640502,12582154,12576514,15135253,15135251,15135245,15133863,17884995,17855807,17784784,17698072,17698027,17696941,17690102,17672218,17659091,17640344,17633563,17595251,17588943,17566095,17548929,17539906,17530370,17502298,17484618,17462654,17457002,17444660,17393220,17393087,17367707,17350490,17349073,17347910,17337758,17299378,17288985,17277465,17277381,17264219,17233885,17214991,17194460,17160438,17158591,17890784,12561593,12551903,12547700,12544508,12535758,12529498,12505152,12492446,12477932,12417285,12397634,12397072,12373055,12368141,12235182,12235173,12208478,12206678,12177061,12124991,12082592,12070165,12044583,12038793,12031600,12011770,11947895,11940087,11940084,11903341,11898622,11882317,11869298,11857554,11840804,11833852,11781700,3680528,3676265,3659919,3652907,3621347,3522585,3513177,3473077,3464946,3461454,3455779,3426612,3346254,3284790,3095664,3087360,3030729,3024665,3022788,3012797,3001697,2994225,2932736,2883086,2567736,2495826,11748351,11737238,11727199,11714857,11575217,11568510,11471883,11459425,11428473,11359462,11359065,11358959,11341749,11333259,11208426,11171287,11170229,11074075,10679026,10513896,10330424,9915855,9694898,9685400,9565615,9490296,9259199,9252351,9012650,8889592,7883971,6373369,6099394,3903660,3860836,3860811,3841481,3841204,3773997,3763409,3759943,2450346,2445342,2216805,2115173,1979313,17823116,14498830 1578415,1578417,1578418,1578419,1578425,1599164,1599165,1580998,1331525,1601202,1601197,1601200,1578416,1601198,1601203,1626106 338 AK290844,BC051278,J02610,K03175,M10374,M12413,M12480,M12681,M14081,M14162,M15421,M17367,M17779,M18036,M18471,M19734,M31030,M36676,X03045,X03324,X03325,NM_000384,AC010872,AC115619,AY324608,CH471053,J04838,M15053,M19828,X04867,X04868,X04869,X04870,AB208846,X03326,X04506,X04714 BAF83533,AAH51278,AAA35549,AAA51759,AAA51750,AAA51742,AAA51751,AAA51753,AAA51752,AAB04636,AAA51758,AAA51741,AAA51755,AAA51754,AAA35541,AAA35544,AAA51756,AAA35548,CAA26850,CAA27043,BAD92083,NP_000375,AAX88848,AAX93246,AAP72970,EAX00801,EAX00802,EAX00803,AAA53373,AAA53374,AAB60718,AAB00481,CAA28558,CAA28559,CAA28560,CAA28561,CAA27044,CAA27045,CAA28191,CAA28420,P04114,P78482,Q0Z7C5,Q0Z7C6,Q13789,Q13828,Q4ZG63,Q53QC8,Q59HB3,Q7Z7Q0,Q9UE51,Q9UE52,Q9UE53 Hs.120759 GDB:119686 FLDB apolipoprotein b 1643262,1643271 BW207_H,BW214_H protein-coding 1607021 APOB48R apolipoprotein B48 receptor Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. 10852956,15830122,15591219,12477932 55911 NM_018690,AC138894,AF141333,CH471279,AF141332,AF141334,AK025123,AK075085,BC119786,BC119788 NP_061160,AAF76256,EAW52278,EAW52279,EAW52280,AAF76255,AAF78765,BAC11391,AAI19787,AAI19789,Q0VD83,Q9NS13 Hs.200333 protein-coding 736126 APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. 1580863,1626277,1626278,625559,1578416 7736571,8078915,16999936,15979078,15659357,15516966,14559896,12896982,12881431,12683974,12477932,11815617,11727199,11698249,11584023,11577082,11352648,10781591,10669759,9479499,9186903,8999814,8999813,8692961,8208612,7698776,11134005 1626277,1626278,625559,1578416 339 NM_001644,AB009426,AC006927,CH471116,AI862416,BC096158,BC096159,BC096160,BC096161,BC101404,BC101405,BC101972,BC101973,L25877,L26234,U72890,U72891,U78720 NP_001635,BAA23882,EAW88660,EAW88661,AAH96158,AAI01973,AAI01974,AAA86766,AAA64230,AAD09567,AAD00185,AAD10701,P41238,Q4VB33 Hs.560 GDB:371870 APOBEC-1|BEDP|CDAR1|HEPR protein-coding 1318670 APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 1580863 10403781,17187054,15489334,14574404,12683974,12477932,11698249,9373149,8999814,8125298,8078915 10930 NM_006789,AL031778,CH471081,AF161698,AI096570,AK223461,BC047767,BC069688,BC069764,BI438931,CB051273 NP_006780,CAB44740,EAX04009,AAD45360,BAD97181,AAH47767,AAH69688,AAH69764,Q53F28,Q9Y235 Hs.555915 GDB:9958608 ARCD1|ARP1 protein-coding 1351728 APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. This gene encodes a protein that lacks the zinc binding activity and may be an expressed pseudogene. 1580863 18403710,17977970,17727729,16407327,15489334,15461802,12859895,12683974,12539042,12477932,11863358,10591208,10469298,1286667 200315 NM_145699,AL022318,CH471095,BC126416,CR456393,U03891 NP_663745,CAI17897,EAW60278,AAI26417,CAG30279,AAA03706,P31941,CAK54381,CAK54680 Hs.348983 GDB:11508911 ARP3|PHRBN|bK150C2.1 protein-coding 1347030 APOBEC3B apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. 1580863 18403710,18024895,17977970,17447845,17020885,16407327,16060832,15489334,15466872,15269786,12859895,12683974,12477932,11863358,10591208,10469298,16648136 9582 AK024854,AY743217,BC031803,BC053859,CT841510,U61083,U61084,NM_004900,AL022318,CH471095 AAW31743,AAH53859,CAJ86440,AAD00089,AAD00090,Q20WL1,Q9UH17,CAK54382,CAK54462,CAK54681,CAK54761,NP_004891,CAB45270,EAW60279,EAW60280,EAW60281,EAW60282 Hs.226307 GDB:11508912 APOBEC1L|ARCD3|ARP4|DJ742C19.2|FLJ21201|PHRBNL|bK150C2.2 protein-coding 1317202 APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. 17353931,18032489,17977970,17967058,17672864,17625792,17582006,17371941,17078485,16735504,16060832,15956565,15862967,15489334,15466872,15461802,12859895,12683974,12477932,11863358,10591208,10469298,16414984,15809227 27350 NM_014508,AL022318,CH471095,CQ834178,AB208979,AF165520,BC011739,BC021080,CR456394 NP_055323,CAI17898,EAW60283,EAW60284,CAH05304,BAD92216,AAF86650,AAH11739,CAG30280,Q59GY0,Q9NRW3,CAK54383,CAK54682 Hs.441124 GDB:11508913 APOBEC1L|ARDC2|ARDC4|ARP5|MGC19485|PBI|bK150C2.3 protein-coding 1349209 APOBEC3D apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. 1580863 16920826,16648136,16344560,15516966,15496550,15461802,15269786,12859895,12683974,12477932,11863358,10737800,10591208 140564 NM_152426,NG_002331,AL022318,CH471095,BC017022,BE888971,BF832090,BM917407,BX340829,CR456396,DA287097,DB121958,EU527884 NP_689639,CAI17899,EAW60285,EAW60286,CAG30282,ACB32248,Q6ICH2,Q96AK3,AAI48620,AAI53186,CAK54385,CAK54684 Hs.629775,Hs.658626 GDB:11508914 APOBEC3DE|APOBEC3E|ARP6 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)|apolipoprotein b mrna editing enzyme, catalytic polypeptide-like 3d protein-coding 1344652 APOBEC3E apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene 11863358 140565 AL022318 GDB:11508915 pseudo 1345786 APOBEC3F apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 15647250,15489334,15461802,15152192,15054139,15031497,14702039,14565218,14557625,14557052,14528301,14528300,14527406,12970355,12859895,12809610,12808466,12808465,12683974,12477932,12167863,10591208,8889548,8570611,17038330,16940537,17067930,16641889,15296757,15141007,11863358,17121840,17977970,17609216,17522216,17145955,17142455,17020885,16699599,16648136,16501124,16460778,16344560 200316 NM_001006666,AL022318,NM_145298,CH471095,DQ146365,BC038808,BE888653,BE892372,BG280786,BG744406,BG758984,BM681311,BQ056344,BQ182066,BQ941658,BX367450,CR456395,DA221480,U38435,CX165430 NP_660341,NP_001006667,CAB45274,EAW60288,EAW60289,AAZ38720,AAH38808,CAG30281,Q6ICH3,Q8IUX4,CAK54384,CAK54683 Hs.659991 GDB:11508916 ARP8|BK150C2.4.MRNA|KA6|MGC74891 protein-coding 1349849 APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. The protein encoded by this gene has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. 1580863 11863358,17121840,12859895,14528301,14564014,15098018,15479846,15781449,18288108,18272764,18184715,18165230,18077705,18023836,17928335,17916373,17898068,17892323,17886715,17881443,17869248,17855362,17848567,17825339,17670826,17631688,17609216,17522216,17522211,17517765,17374143,17344295,17314171,17272283,17267497,17259974,17251560,17237417,17212712,17166910,17161027,17145955,17142455,17126871,17083721,17079235,17079095,17067930,17065315,17052331,17049578,17036163,17030807,16988524,16940537,16887808,16874860,16731938,16710452,16699599,16678488,16641889,16641260,16622407,16501124,16460778,16426578,16414984,16354571,16250885,16000409,15943885,15829920,15823539,15721369,15674295,15647250,15613310,15611076,15609224,15581898,15578976,15574592,15537645,15489334,15461802,15452227,15383144,15373943,15358144,15353294,15297452,15286366,15269786,15245742,15210704,15177194,15168739,15159405,15156567,15152192,15116720,15080177,15054139,15031497,14747572,14702039,14672928,14614829,14565218,14557625,14557052,14528300,14527406,12970355,12920286,12914693,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12683974,12477932,12167863,10591208,9846577,9811770,16971427,17020885,15479826,15464836,14999100,14978281,14966139,17023652,16631224,16303161,16418394,15215254 60489 CR456472,CR611013,CR619121,NM_021822,AL022318,AL078641,CH471095,DQ147772,AB266487,AF182420,AK022802,AK092614,AK093635,BC009683,BC024268,BC061914 CAG30358,Q05JX5,Q9HC16,CAK54453,CAK54752,NP_068594,CAI17900,EAW60292,AAZ38722,BAF34652,AAG14956,BAB14251,AAH24268,AAH61914 Hs.660143 GDB:11508917 ARP9|CEM15|FLJ12740|MDS019|bK150C2.7|dJ494G10.1 protein-coding 1604731 APOBEC3H apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H Members of the APOBEC family of proteins, like APOBEC3H, are mRNA editing enzymes that affect protein diversity by deamination of cytidine to produce uridine (Wedekind et al., 2003 [PubMed 12683974]).[supplied by OMIM] 18403710,16571802,15461802,12683974,12477932 164668 NM_181773,AL031846,CH471095,BC069023,BQ052182,CR456481 NP_861438,EAW60294,EAW60295,EAW60296,AAH69023,CAG30367,Q6NTF7 Hs.440515 ARP10|dJ742C19.2 protein-coding 1606067 APOBEC4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. 16710414,16082223,15489334,14702039,12477932 403314 NM_203454,AL137800,CH471067,AI961390,AK098557,BC021711 NP_982279,EAW91169,BAC05332,AAH21711,Q8WW27 Hs.97335 C1orf169|MGC26594 protein-coding 1345381 APOBER1 apolipoprotein B mRNA editing enzyme regulator 340 GDB:371874 735472 APOC1 apolipoprotein C-I The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. 1578472,1578471,1580863,1578426 11162594,2897845,11256614,18049452,17936795,17761674,17667986,17341095,17310220,17254710,17053273,16981907,16935938,16763159,16631424,16608402,16544732,16478678,16459141,16381901,16159884,15900219,15840864,15777558,15769335,15767578,15576844,15489336,15489334,15364690,15339254,15077570,14746139,14705977,14523051,12962909,12860251,12736801,12705839,12678662,12477932,12429068,12220441,12113906,12044170,12032151,11825674,11702052,11076863,10978346,10520737,10391210,9373149,9300485,8804993,8432525,7471419,6789904,6328444,4369340,3017837,3013172,2985493,2835369,166984,16189514,8125298,7779782 1578472,1578471,1578426 341 NM_001645,AC011481,AF050154,AY422954,CH471126,M20843,M20902,AI310334,AI885116,AK225971,BC009698,BC055093,BT007142,CR456907,M27359,X00570 NP_001636,AAD02506,AAQ91813,EAW57307,EAW57308,AAA51763,AAA88018,AAH09698,AAH55093,AAP35806,CAG33188,AAA51762,CAA25235,P02654,CAL37605 Hs.110675 GDB:119687 1643251 BW139_H protein-coding 1342905 APOC1P1 apolipoprotein C-I pseudogene 1 2835369 342 M20903 GDB:119688 pseudo 1352001 APOC2 apolipoprotein C-II The protein encoded by this gene is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. 1599175,1358408,1358409,1601191,1601207,1601205,1601212,1601206,1601208,1580863,1578471,1601204,1601214 11310852,10391210,8490626,8323539,8112221,7923858,7815420,6706938,6593704,6546757,6328478,6328445,3944271,3944267,3680515,3558370,3525527,3474626,3467353,3263393,3192518,3030808,3014272,2477392,2415514,2209608,10727238,8245722,11162594,15878877,4345202,14718574,18206908,18005990,17855807,17717288,17429947,17222387,17174330,17018885,16763159,16459141,16432277,15778093,15489334,15031287,14746139,12783430,12782148,12682050,12590574,12477932,12450397,12220441,12032151,11930616,11752456,11751863,11579204,1971748,1782747,1555583,194244 1599175,1358408,1358409,1601191,1601207,1601205,1601212,1601206,1601208,1578471,1601204,1601214 344 AC011481,AY422955,CH471126,J02698,M10612,X05151,AF113884,AV694494,BC005348,BC065270,BT006708,NM_000483,M29844,X00568 NP_000474,AAQ91814,EAW57311,EAW57312,EAW57313,AAA98743,AAB59380,CAA28798,AAD28193,AAH05348,AAH65270,AAP35354,AAA51743,CAA25234,P02655,Q6P163 Hs.75615 GDB:119689 MGC75082 1643251 BW139_H protein-coding 737569 APOC3 apolipoprotein C-III Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. 1578443,1331525,1601191,1601223,1601226,1601224,1599190,1580863,1578471,1578441,1578447,1578444,1601225,1578442,1626412 11162594,16973241,11060345,4066713,16443932,4345202,17438339,18289550,11472750,11443500,11427182,11359462,11341749,11284423,11282888,11270684,11193221,11181747,11171287,11152845,11126401,11116069,10870325,8099442,6548954,6439535,6404278,6328445,6308458,4846755,3949020,3935800,3931677,3123586,3095836,2989400,2022742,18274205,18240956,18206649,18193043,18188530,18187430,18096054,18034366,18020971,17996965,3931073,15962178,15949705,15924804,15910632,15868628,15864534,15862889,15823278,15809899,15778093,15764642,15715433,15657615,15649902,15642486,15598690,15585206,15576429,15549499,15542401,15489334,15488874,15375785,15364160,15304365,15292332,15175273,15161788,15151505,15124908,15117734,15108119,15076187,15039125,15019539,14718574,14650351,14612212,14569462,14563827,14517726,12964943,12962772,12782148,12754559,12732844,12697301,12692252,12691171,12676816,12600077,12588953,12556235,12514935,12477932,12417525,12401896,12235176,12189450,12176399,12118856,12116231,12082592,12082170,12052247,12048138,12048121,11959336,11903304,11893778,11840804,11839757,11837227,11740190,11737222,11714857,11605014,11575217,11572515,11533368,17964293,17919884,17855807,17853951,17825930,17726453,17700364,17672999,17654446,17615573,17457002,17416293,17378725,17367769,17342071,17318300,17314277,17283453,17261136,17197160,17142127,17038637,17032446,11512679,11500189,17020471,17016614,16917759,16864937,16861622,16813599,16781717,16769999,16763159,16710093,16705465,16702309,16682041,16602826,16505251,16495512,16430904,16417409,16410456,16343038,16326171,16321685,16276364,16205020,16192625,16136540,16030523,16015281,15983323 1578443,1331525,1601191,1601223,1601226,1601224,1599190,1578471,1578441,1578447,1578444,1601225,1578442,1626412 345 NM_000040,AP006216,AY422951,AY555191,CH471065,CQ924609,EF444950,J00098,M33043,X01392,X03120,BC027977,BC121081,BC134419,CR605747,M28613,M28614,V01513,X00567,X01388 NP_000031,AAQ91810,AAS68230,EAW67272,EAW67273,CAI23899,ACA05940,ACA05941,ACA05942,AAB59515,AAB59372,CAA25648,CAA26895,AAH27977,AAI21082,AAI34420,AAA51760,AAA51761,CAA24757,CAA25233,CAA25644,P02656,ABM82970,ABM86164 Hs.73849 GDB:119001 APOCIII|MGC150353 protein-coding 736043 APOC4 apolipoprotein C-IV Apolipoprotein (apo)C4 gene is a member of the apolipoprotein gene family. It is expressed in the liver and has a predicted protein structure characteristic of the other genes in this family. Apo C4 is a 3.3-kb gene consisting of 3 exons and 2 introns; it is located 0.5 kb 5' to the APOC2 gene. 1580863 8530039,16335952,15489334,12477932,12032151,10996355,8910501,8827523 346 NM_001646,AC011481,AY422953,CH471126,U32576,BC020723,EF371378 NP_001637,AAQ91812,EAW57310,AAA91653,AAH20723,ABQ40075,P55056,Q53YY8 Hs.655423 GDB:568489 1643251 BW139_H protein-coding 737460 APOD apolipoprotein D Apolipoprotein D (Apo-D) is a component of high density lipoprotein that has no marked similarity to other apolipoprotein sequences. It has a high degree of homology to plasma retinol-binding protein and other members of the alpha 2 microglobulin protein superfamily of carrier proteins, also known as lipocalins. It is a glycoprotein of estimated molecular weight 33 KDa. Apo-D is closely associated with the enzyme lecithin:cholesterol acyltransferase - an enzyme involved in lipoprotein metabolism. 1580863 3453108,7918467,14718574,17885669,16966838,16437381,16402085,16335952,15916898,15489334,15316799,15192024,14760718,14596852,14551159,14500696,12873803,12837283,12497622,12477932,12363390,12052480,11744388,11344130,11058760,10391209,8692868,8549691,7613477,6774335,2891117,2439269,2244881,2083249,17353931,16189514 347 NM_001647,AC069213,CH471052,M16648,M16649,M16695,M16696,BC007402,BQ008672,BT019860,BT019861,BU195270,CR456838,CR541773,J02611,S80440 NP_001638,EAW78023,EAW78024,AAA51764,AAH07402,AAV38663,AAV38664,CAG33119,CAG46572,AAB59517,AAB35919,P05090,ABM83594,ABM87123 Hs.522555 GDB:119690 1643508 BW262_H protein-coding 736378 APOE apolipoprotein E Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. 1300048,1578483,1578449,1578479,1331525,1601191,1601227,1601238,1601231,1601235,1601230,1599198,1580863,1578416,1578481,1578485,1601229,1601237,1601240,1578426,1626412 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1340230,11334897,11334266,11332642,11328206,11326299,11320185,11315514,11311499,11305851,11305732,11303757,11302074,11299424,11295126,11285089,11281508,11281447,11280044,11277566,11273909,11273849,11269753,11269459,11259129,11257255,11257253,11256794,11254923,11244490,11236867,11231028,11229422,11218879,11204323,11182472,11177205,11176958,11173882,11173877,11173876,11172628,11171894,11171287,11166947,11166913,11160955,11157409,11156623,11153762,11152862,11143490,11141572,11140944,11140838,11129992,11129109,11126401,11125748,11121165,11119301,11118932,11118404,11118260,11118024,11113217,11110974,11109009,11106322,11100124,11099722,11096027,11095526,11095479,11079660,11076057,11074789,11072138,11064931,11063158,11061249,11060506,11058710,11055796,11042151,11033977,11032626,11030801,10993992,10962542,10850798,10662539,10559559,10520737,9931331,9869645,9831625,9512010,9360638,9236223,9218423,9147408,9012418,8756331,8624078,8620924,8488843,8346443,8287539,8063017,7833947,7797576,7761390,7635945,7586659,7581381,7498414,7263700,7068630,6897404,6327682,6325438,6323533,6289314,6199196,3947350,3922972,3283935,3243553,3038959,2992507,2987927,2851587,2760009,2738044,2556398,2539388,2498325,2470732,2341812,2313204,2101409,2063194,1730728,1713245,1674745,1617762,1361196,1360898,1356443,759055,17984004,16697650,15264223,15326295 1578483,1578449,1578479,1331525,1601191,1601227,1601238,1601231,1601235,1601230,1599198,1578416,1578481,1578485,1601229,1601237,1601240,1578426,1626412 348 NM_000041,NG_007084,AB035149,AC011481,AF050154,AF261279,AY077451,CH471126,M10065,X92000,BC003557,BU848796,K00396,M12529,X00199,Z70760 NP_000032,BAA96080,AAD02505,AAG27089,AAL82810,EAW57306,AAB59397,CAA63051,AAH03557,AAB59546,AAB59518,CAA25017,CAA94806,P02649,Q13791,Q6LA97,Q6LBZ1,Q8TCZ8,ABM83474,ABM86685 Hs.654439 GDB:119691 AD2|LPG|MGC1571|apoprotein 1643251 BW139_H protein-coding 1342697 APOEL1 apolipoprotein E-like 1 1505951 349 GDB:119002 1344329 APOF apolipoprotein F The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. 1580863 6816269,8093033,14718574,17901467,15489334,15172102,12907677,12477932,9880564,204339 319 NM_001638,AC025574,CH471054,BC026257,CR936663,L27050 NP_001629,EAW96938,AAH26257,AAA65642,Q13790 Hs.534302 GDB:391034 Apo-F|DKFZp781G18150|LTIP|MGC22520 protein-coding 1321637 APOH apolipoprotein H (beta-2-glycoprotein I) Apolipoprotein H has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome, but it does not seem to be required for the reactivity of antiphospholipid autoantibodies associated with infections. 1578489,1580863 16480936,9269765,7417307,15486070,4052628,17872974,14726399,15534879,7078428,222615,18383370,18205270,18093092,18073216,18034767,17726161,17715943,17662972,17626983,17603016,17469158,17200780,17096706,17057945,17053060,16960938,16905548,16879209,16855163,16724168,16686261,16625500,16603439,16335952,16199891,16159595,16038107,15956288,15916797,15821830,15653437,15641049,15522884,15507264,15507263,15489334,15488942,15252864,15094940,15084671,15025925,14768953,14760718,14719180,14718574,14707422,14644075,14601646,12970918,12918732,16740002,12887738,12807892,12673579,12648080,12605674,12590955,12571857,12562869,12495081,12495080,12477932,12471146,12441378,12440522,12428105,12371681,12362233,12235181,12139935,12124280,12038453,12031135,11953211,11816715,11686326,11434778,10809787,10562535,10508150,9914524,9727058,9596664,9352386,9225969,9155091,9063752,8989432,8460120,8139027,8099061,6587378,6403535,3361230,2349221,1777418,1748314,1655523,1650181,1602135,1582254,1426288,1339416 1578489 350 NM_000042,AC006120,AY322156,CH471099,Y11493,Y17754,BC020703,BC026283,BG566874,BM005736,CR591542,CR595640,M62839,S80305,X53595,X57847,X58100 NP_000033,AAP72014,EAW89012,EAW89013,CAA72279,CAA76845,AAH20703,AAH26283,AAA51766,AAB21330,CAA37664,CAA40977,CAA41113,P02749,ABM82288,ABM85468 Hs.445358 GDB:118887 B2G1|BG protein-coding 1348736 APOL1 apolipoprotein L, 1 Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. The protein encoded by this gene is a secreted high density lipoprotein which binds to apolipoprotein A-I. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. 1580863 16020735,12621437,17192540,9325276,17360487,16335952,15949655,15604524,15500911,15489334,14718574,12837283,12477932,11944986,11374903,11290834,10946010,10591208,16189514 8542 NM_145343,NM_003661,AF323548,CH471095,Z82215,AF019225,AF305224,AF305428,AF323540,BC017331,BC112943,BC113867,BC114475,BC127186,BC141823,BC142720,BC143038,BC143039,CR626091 NP_663318,NP_003652,AAK11591,EAW60090,EAW60091,EAW60092,EAW60093,EAW60094,CAI22438,AAB81218,AAK20210,AAL09358,AAG53690,AAH17331,AAI12944,AAI13868,AAI14476,AAI27187,AAI41824,AAI42721,AAI43039,AAI43040,O14791,Q1WWL5,Q29RW7,Q2KHQ6 Hs.114309 GDB:9955575 APO-L|APOL|APOL-I protein-coding 1320008 APOL2 apolipoprotein L, 2 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. 1580863 11374903,15949655,15489334,14702039,12477932,11944986,11290834,10591208,7566098 23780 NM_145637,NM_030882,AF324230,AL031426,CH471095,AB208990,AF305225,AF305429,AF324223,AF324224,AK056938,BC004395,CR593100 NP_663612,NP_112092,AAK11598,EAW60087,EAW60088,EAW60089,BAD92227,AAK20211,AAL09359,AAK11592,AAK11593,BAB71315,AAH04395,Q59GW9,Q9BQE5,ABM84357,ABM87743 Hs.474740 GDB:10795285 APOL-II protein-coding 1315120 APOL3 apolipoprotein L, 3 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. In addition, expression of this gene is upregulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Six transcript variants encoding three different isoforms have been found for this gene. 1580863 10233894,12761501,16806233,15461802,12477932,11944986,11374903,11290834,10591208 80833 NM_145641,NM_145640,NM_014349,NM_145639,NM_030644,AF324238,CH471095,Z95114,AF070675,AF305227,AK025349,AY014902,AY014903,NM_145642,AY014904,AY014905,AY014906,AY014907,BC038352,BC042918,BC050596,CR456379 NP_663617,NP_663616,NP_663615,NP_055164,NP_663614,NP_085147,AAK26527,AAK26528,AAK26529,EAW60080,EAW60081,EAW60082,EAW60083,AAC83233,AAK20213,AAG50344,AAG50345,AAG50346,AAG50347,AAG50348,AAG50349,AAH42918,AAH50596,CAG30265,O95236,Q5U5N4,CAK54368,CAK54667 Hs.474737 GDB:11505631 APOLIII|CG12-1 protein-coding 1343358 APOL4 apolipoprotein L, 4 The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. 1580863 15949655,15461802,12477932,11944986,11374903,11290834,9373149,8125298 80832 NM_145660,NM_030643,AY014913,CH471095,AF305226,AK225696,AK290466,AK290777,AY014914,AY014915,BC004150,BC006276,BC010131,BC017313,CR456380,CR607178 NP_663693,NP_085146,AAG50350,AAG50351,EAW60084,EAW60085,EAW60086,AAK20212,BAF83155,BAF83466,AAG50352,AAG50353,AAH06276,CAG30266,Q5H957,Q6ICI8,Q9BPW4,Q9BRG6,AAI56832,CAK54369,CAK54668 Hs.115099 GDB:11505633 APOL-IV|APOLIV protein-coding 1347333 APOL5 apolipoprotein L, 5 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. 1580863 11374903,10591208 80831 NM_030642,AL049748,AY014878 NP_085145,CAI20524,AAK07723,Q9BWW9,AAI56796 Hs.326561 GDB:11505635 APOL-V protein-coding 1353798 APOL6 apolipoprotein L, 6 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. 1580863 12975309,12477932,11374903,10591208,9828130,8889548,15671246,15489334,15461802,14702039 80830 NM_030641,AL049747,CH471095,Z79996,AJ227900,AK074645,AK095881,AK097266,AL834420,AY014879,AY358210,BC038950,BC047864,BM023524,BM982940,BU585026,CR456381 NP_085144,EAW60069,BAC11109,BAC04988,CAH56356,AAK07724,AAQ88577,AAH38950,AAH47864,CAG30267,Q658J1,Q8N862,Q8NCM1,Q9BWW8,CAK54370,CAK54669 Hs.257352 GDB:11505637 APOL-VI|DKFZp667M075|FLJ38562|FLJ90164|MGC57495 protein-coding 1604585 APOLD1 apolipoprotein L domain containing 1 16381901,16344560,15489336,15489334,15102925,14702039,12477932,11230166,11076863,9373149,8125298 81575 NM_030817,AC007215,CH471094,AK024963,AK225176,AL136783,BC042478,BC126433,BC126435,CR601241,CR606352,DA405367 NP_110444,EAW96278,CAB66717,AAH42478,AAI26434,AAI26436,Q0JTA2,Q96LR9,CAL38261 Hs.23388 DKFZP434F0318|FLJ25138|VERGE protein-coding 1351807 APOM apolipoprotein M The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Two transcript variants encoding two different isoforms have been found for this gene, but only one of them has been fully characterized. 1580863 10531326,18338076,18279674,18006500,17977826,17973931,17674965,17557255,17525477,17112825,17022639,16682745,16572495,16335952,15904876,15542348,15489334,15172102,15147633,14656967,14633861,14574404,12666989,12477932,11944906,11418126,8812450 55937 AF129756,AL662801,AL670886,AL805934,BA000025,BX511262,CH471081,CR354443,CR753842,NM_019101,CR759761,CS185541,AF118393,AF161454,AJ245434,BC020683,BG564719 NP_061974,AAD18084,CAI18319,CAI18321,CAI17788,CAI17790,CAI18511,CAI18513,BAB63389,CAM45814,CAM45815,CAM45816,EAX03461,EAX03462,EAX03463,EAX03464,CAQ06991,CAQ06992,CAQ06993,CAQ06561,CAQ06562,CAQ06563,CAQ10868,CAQ10869,CAQ10870,CAJ42722,AAD11443,AAF29014,CAB51604,AAH20683,O95445,Q5SRP4 Hs.534468 GDB:11509994 G3a|HSPC336|MGC22400|NG20 protein-coding 1603962 APOO apolipoprotein O 16956892,15489334,12975309,12477932 79135 NM_024122,AC079376,AC131011,CH471074,AF061264,AY359114,BC002333,BC010102,BC016814,CR608630 NP_077027,EAW99001,EAW99002,EAW99003,EAW99004,AAG43139,AAQ89472,AAH02333,AAH10102,AAH16814,Q9BUR5 Hs.495851 FAM121B|MGC4825|My025 protein-coding 1351827 APOOL apolipoprotein O-like 15772651,15489334,14702039,12975309,12477932,10737800 139322 AK096909,AK130506,AY358193,BC107096,BI038188,CR749250,NM_198450,CH471104,Z83820 CAI42458,AAQ88560,AAI07097,CAH18106,Q68DW4,Q6UXV4,NP_940852,EAW98568 Hs.512181,Hs.648463,Hs.706885 CXorf33|FAM121A|MGC129748|UNQ8193 chromosome x open reading frame 33 protein-coding 736021 APP amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. 1300048,1599199 17416970,17412506,17405936,17405931,17405930,17405928,17393484,17368826,17360908,17360894,17339876,17335780,17332749,17328898,17325276,17319802,17307738,17268504,17264078,17255094,17251431,17234594,17233641,17229472,17215111,17207630,17192425,17168650,17151277,17150042,17141269,17132139,17115426,17113271,17113167,17112637,17098805,17095738,17093061,17427190,10681545,16286452,10652580,11279603,15910549,7593229,2110384,10806211,18413480,18413473,18408165,18403054,18376127,18374657,18322381,18322377,18322375,18322372,18320103,18304576,18300294,18284028,18283248,18248325,18234110,18216187,18215070,18201969,18201567,18184372,18182389,18164313,18162558,18096514,18055545,18045146,18043715,18040846,18032553,18028874,18026102,18026100,18021806,17997700,17986385,17979527,17945434,17940047,17929832,17929129,17056594,17056255,17054906,17048876,17046756,17028131,17012232,17005855,16965061,16947080,16940437,16935943,16924555,16920151,16909010,16906128,16902091,16893414,16887805,16878983,16877355,16865398,16856153,16849336,16846375,16837572,16816122,16815330,16789686,16788822,16785251,16728400,16705182,16698938,16698128,17905305,17890228,17881287,17873282,17855370,17855343,17785178,17767011,17763155,17761425,17760842,17727819,17725929,17701472,17694066,17687027,17686533,17684015,17675890,17659280,17651731,17651693,17636872,17634293,17632276,17632272,17611268,17601350,17595112,17586478,17573534,17914261,17909280,17573346,17548355,17545160,17537517,17536186,17522316,17514422,17481654,17468104,17448150,17446087,17442758,16432204,16432203,16432149,16423463,16407538,16401644,16374483,16368544,16354928,16354549,16344553,16344478,16339026,16337035,16335952,16303768,16301330,16301322,16298992,16282321,16267229,16263715,16258386,16252002,16215229,16210396,16201761,16195918,16186172,16182533,16178030,16135089,16129700,16127459,16125396,16109164,16101387,16098972,16095541,16086583,16079141,16053447,16052209,16046408,16027166,16002400,15987951,15987892,15985437,15983050,15975068,15967987,15964569,15959846,15946122,15936948,15923191,15909112,15896298,15895461,15880353,15855647,15855271,15837590,16651889,16651627,16648485,16634632,16608822,16595682,16555084,16551656,16541076,16536739,16508101,16505331,16490783,16489755,16485107,16480949,16469300,16467370,16456666,16449801,16436282,16434391,16432277,16685645,16672766,10922078,10911620,10884510,10867787,10830953,10821838,10816430,10742146,10665499,10631141,10605825,10593990,10567208,10561592,10559559,10535332,10461923,10460257,10441572,10438520,10413512,10383380,10371197,10341243,10329371,10319819,10201399,10097173,10081969,10078972,10075692,10049767,10048303,9890987,9843960,9837937,9830016,9799084,9754958,9693002,9585534,9553108,9444352,9357988,9338779,9328472,9300481,9228033,9168929,9163350,9136074,9108164,9045663,8999878,8973180,8955346,8943232,7556457,7543026,7523115,7516706,3810169,3597385,3312495,3159021,3140222,3035574,2949367,2900137,2893379,2893291,2893290,2893289,2881207,2783775,2675837,2569763,2538123,2507928,2506449,2190106,2125487,2119582,7686976,7588758,15824110,15809056,15778502,15776278,15772078,15769509,15764367,15755672,15748844,15728175,15722360,15718037,15705569,15699049,15699037,15689551,15689542,15681641,15677459,15672415,15668448,15653506,15647781,15647266,15632190,15615711,15592359,15591071,15584916,15584903,15576377,15563588,15537891,15530662,15522224,15509549,15499593,15489334,15489232,15488330,15485850,15474359,15459202,15452132,15452128,15451372,15450086,15385569,15365148,15347684,15347683,15342738,15316009,15294142,15282285,15274612,15255950,15251450,15251442,15234966,15233804,15208267,15208260,15203119,15201367,15197182,15184603,15182369,15178331,15161650,15158161,15126508,15123740,15087549,15087467,15084524,15073156,15059642,15053925,15044485,15037614,15036614,15033805,15013569,15004329,14993906,14992810,14985339,14983046,14978032,14970211,14871891,14769392,14724276,14722157,14699153,14699107,14690498,14687578,14676049,14663182,14659754,14615541,14557245,14550290,14527950,14525989,14523627,14507922,12972252,12960155,12958194,12944403,12925374,12921787,12917434,12900421,12895653,12895507,12893827,12888553,12874400,12867422,12859342,12824062,12815102,12799176,12796495,12782964,12763021,12754201,12730216,12716908,12702875,12697936,12670422,12665801,12659848,12654973,12653567,12645527,12627474,12626500,12611883,12586836,12535605,12529377,12493731,12485888,12480759,12124613,12119298,12107175,12099698,12099697,12091492,12090937,12080182,12079364,12069633,12057765,12054503,12054502,12048239,12038964,12034808,12032279,12032152,12025818,12023906,12016588,12016213,12011466,11958860,11943163,11932745,11927537,11915326,11915325,11912199,11912198,11912196,11882652,11879646,11877420,11851430,11831556,11827488,11823458,11809755,11784781,12480183,12477932,12472467,12471457,12464614,12435726,12433268,12427014,12426076,12414694,12393935,12388551,12383342,12230982,12215842,12214090,12212791,12177374,12146796,12142279,12128082,12128081,12128080,12128077,11775062,11756677,11726805,11724784,11689470,11589915,11580253,11568920,11544248,11528419,11517249,11517218,11500807,11438549,11430884,11423558,11409420,11378243,11376898,11279131,11278849,11274207,11238726,11214319,11146006,11144355,11100124,11085987,11063718,10993067,10973933,10953012,10940222,10940221,10936190,10931940,8930981,8887653,8886002,8855266,8781550,8764598,8752142,8626687,8596911,8577393,8576160,8499923,8478942,8476439,8473906,8446172,8344894,8290042,8267572,8248178,8239320,8229004,8158260,8154870,8131745,8109908,8102836,8032873,7913895,7793988,7737970,7688497,2111584,2110105,1969731,1944558,1925564,1908403,1908231,1718421,1707846,1679289,1678058,1671712,1587857,1415269,1363811,1353447,1307241,1303275,1303244,1303239,1302033,10527458,8624131,7699335,1907279,15668546,15668537,16189514,12972431,15834427,15514157,14756819,12849748,9223340,15448688,10801777 1599199 351 A02759,M34871,M34872,M34873,M34874,M34875,M34876,M34877,M34878,M34879,M37896,S45136,S60317,X13466,AB066441,AF282245,BC004369,M34870,NM_201414,NM_201413,NM_000484,NG_007376,AP001439,AP001440,AP001441,AP001442,AP001443,AY011354,AY919674,CH471079,CS275872,D87675,M24546,M29270,M33112,M34862,M34863,M34864,M34865,M34866,M34867,M34868,M34869,BC065523,BC065529,BE907745,BI559391,BM172428,CR618347,CR618842,M15532,M15533,M16765,M18734,M28373,M35675,S41243,S60721,S61380,S61383,X06981,X06982,X06989,Y00264 Q9UC33,CAA00268,Q9BYY9,AAB59501,AAA51727,AAB23646,AAC60601,CAA31830,BAB71958,AAQ14327,NP_958817,NP_958816,NP_000475,AAG47389,AAW82435,EAX09957,EAX09958,EAX09959,EAX09960,EAX09961,EAX09962,EAX09963,EAX09964,EAX09965,EAX09966,CAJ84410,BAA22264,AAC13654,AAA51768,AAB59502,AAH65523,AAH65529,AAA51564,AAA35540,AAA51722,AAA51726,AAA58727,AAA60163,AAB26263,AAB26264,AAB26265,CAA30041,CAA30042,CAA30050,CAA68374,P05067,Q6GSC0,Q6P0P4,Q8WZ99,AAH04369 Hs.706742 GDB:119692 AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN2 amyloid beta (a4) precursor protein protein-coding 1315134 APPBP2 amyloid beta precursor protein (cytoplasmic tail) binding protein 2 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. This gene has been found to be highly expressed in breast cancer. Multiple polyadenylation sites have been found for this gene. 1580863 9843960,11742091,16189514,15489334,12915535,12477932,11331760,11034067,9039502 10513 NM_006380,AC011921,AC037475,CH471179,AF017782,AK292227,AL157428,BC018121,D86981 NP_006371,EAW51406,EAW51407,AAC83973,BAF84916,AAH18121,BAA13217,Q92624 Hs.84084 GDB:9785281 HS.84084|KIAA0228|PAT1 protein-coding 1343947 APPL1 amyloid beta (A4) precursor protein-like 1 352 GDB:119693 1607055 APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. 10490823,12011067,15016378,18307981,18034774,17848569,17581628,17502098,17490420,17287464,17030088,16622416,16189514,15489334,15345747,15302935,15070827,12621049,12477932,12168954,10718198 26060 NM_012096,AC093928,CH471055,AB037849,AF169797,AF424738,BC010911,BC028599 NP_036228,EAW65335,EAW65336,BAA92666,AAF04012,AAL17835,AAH28599,Q9UKG1 Hs.476415 APPL|DIP13alpha protein-coding 1605653 APPL2 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 15016378,18034774,17030088,16622416,16189514,15489334,14702039,12477932,11431708 55198 NM_018171,AC016257,AC078874,CH471054,AK001521,AK290562,AY113704,BC028008,BC033731 NP_060641,EAW97762,EAW97763,EAW97764,BAF83251,AAM55530,AAH33731,ABM83033,ABM86227,Q8NEU8 Hs.506603 DIP13B|FLJ10659 protein-coding 1317133 APRT adenine phosphoribosyltransferase Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. 1599204,1580863,1599201 15196008,457664,3531209,17353931,16130169,17126311,15571218,15489334,14674717,12665801,12477932,11243733,10937693,10481956,10479485,10369268,9521589,9298830,8889579,8882882,8455250,1353080,869896,116697,7915931,7685481,7660991,3684585,3680503,3554238,3343350,2502918,2227951,2135300,2067530,1985452,1746557 1599204,1599201 353 NM_000485,NM_001030018,AC092384,AY306126,CH471184,M16446,U09817,Y00486,BC106894,BC106895,BC107151,BM423481,BM550173,BU507629,CR749423 NP_000476,NP_001025189,AAP45051,EAW66760,EAW66761,AAA51769,AAB84304,CAA68543,AAI07152,CAH18261,P07741,Q12898 Hs.28914 GDB:119003 AMP|DKFZp686D13177|MGC125856|MGC125857|MGC129961 protein-coding 1606553 APTX aprataxin This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia-ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined. 15555565,15489334,15380105,15365154,15276230,15164193,15164053,14702039,14534929,14506070,12629250,12477932,12196655,12119013,11586300,11586299,11170899,7891378,7782601,3239952,16189514,16547001,16964241,17276982,17519253,15044383,14755728,16777843,18202221,17572444,17485165,17240329,17049295,16713569,16439205,15852392,15790557,15719174,15699391,15596775 54840 CH471071,CS185575,AJ565850,AJ565851,AJ565852,AJ565853,AJ565854,AJ565855,AJ575566,AK000164,AK055672,AK131046,AY040777,NM_175069,NM_175073,NM_175071,NM_175072,NM_017692,AL162590,AL353717,AY208829,AY208830,AY208831,AY208832,AY302069,AY302070,AY302071,AY302072,AY302073,AY302074,BC001628,BC032650,BC068107,BC104881,BQ957536,BX538161,CA429601,AY208833,AY208834,AY208835,AY208836,AY208837,AY208838,AY208839,AY208840,AY208841,AY208842,AY302067,AY302068,CR592504,CR602856,CR620499 CAI15730,CAI15734,CAI15735,EAW58528,EAW58529,EAW58530,EAW58531,EAW58532,EAW58533,EAW58534,EAW58535,CAJ42756,CAD92454,CAD92455,CAD92456,CAD92457,CAD92458,CAD92459,CAE01427,BAA90985,AAK91768,NP_778239,NP_778243,NP_778241,NP_778242,NP_060162,CAI15728,CAI15729,AAP86319,AAP86320,AAP86321,AAP86322,AAQ74132,AAQ74133,AAQ74134,AAQ74135,AAQ74136,AAQ74137,AAH01628,AAH32650,AAI04882,CAD98041,AAQ74131,AAP86323,AAP86324,AAP86325,AAP86326,AAP86327,AAP86328,AAP86329,AAP86330,AAP86331,AAP86332,AAQ74130,Q0P662,Q5T782,Q5T783,Q5T784,Q6JV79,Q6JV81,Q6JV82,Q6JV85,Q7Z2E3 Hs.20158 GDB:11504296 AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT|FLJ20157|MGC1072 protein-coding 1351345 APXLP apical protein-like (Xenopus laevis) pseudogene 12815422 10031 NG_002803,AC004617 GDB:9954905 pseudo 70369 AQP1 aquaporin 1 (Colton blood group) Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. 734971 7521540,1722319,18282122,18202181,18067501,18052958,17898873,17894331,17890385,17854859,17632520,17549682,17409744,17408468,17273788,17077939,17012249,16871401,16814974,16698771,16574458,16534779,16515633,16481371,16344560,16300893,16189514,15847654,15809704,15783300,15667881,15502805,15489334,15135660,15024704,14753494,14753493,14701836,14592814,14514735,12853948,12781664,12498798,12477932,12399631,12237771,12137754,12027013,12002613,11922632,11909995,11884383,11780053,11532455,11408278,11171962,11097616,11034202,10873606,10872456,9177353,8703970,8576117,8340403,7693713,7677994,7540589,7532004,7521882,7518771,7517546,7517253,7514605,7507481,3166547,3049610,2007592,1373524,10839360,10559675,9468475 734971 358 NM_198098,NG_007475,AACC02000087,AC004691,AC005155,AF480415,AY953319,CH471073,AU122128,AY312580,AY312581,BC022486,BI837828,CR617260,M77829,S73482,U41517,U41518 NP_932766,EAL24446,AAC16481,AAC23788,AAL87136,AAX24129,EAW93971,EAW93972,AAR16185,AAR16186,AAH22486,AAA58425,AAB31193,AAC50648,AAC50649,P29972,Q6JSD7,Q6JSD8,ABM83292,ABM86501 Hs.76152 GDB:129082 AQP-CHIP|CHIP28|CO|MGC26324 aquaporin 1 protein-coding 1344809 AQP10 aquaporin 10 This gene encodes a member of the aquaglyceroporin family of integral membrane proteins. Members of this family function as water-permeable channels in the epithelia of organs that absorb and excrete water. This protein was shown to function as a water-selective channel, and could also permeate neutral solutes such as glycerol and urea. 1580863 15898950,15489334,12477932,12084581,11573934 89872 NM_080429,AL162591,AL354980,CH471121,AB066105,AF159174,BC069607,BC074896,BC074897,CR614330 CAH70482,NP_536354,CAH70483,EAW53209,EAW53210,EAW53211,BAB91223,AAL25998,AAH69607,AAH74896,AAH74897,Q5VYD3,Q5VYD4,Q96PS8 Hs.259048 GDB:11508820 AQPA_HUMAN protein-coding 736750 AQP11 aquaporin 11 1580863 16650285,16303743,16107722,15489334,12477932 282679 NM_173039,AP000609,AP002789,CH471076,CS051419,AB028147,AK075346,BC040443 NP_766627,EAW75030,EAW75031,CAI72204,BAC45004,BAC11558,AAH40443,Q8NBQ7 Hs.503345 AQPX1 protein-coding 1346803 AQP12A aquaporin 12A 1580863 15809071 375318 NM_198998,AC011298,CH471063,AB040748 NP_945349,EAW71211,BAC45006,Q8IXF9 Hs.534650 AQP12|AQPX2 aquaporin 12 protein-coding 1352752 AQP12B aquaporin 12B 12477932 653437 NM_001102467,AC011298,BC041460,BC139748 NP_001095937,AAH41460,AAI39749,A6NM10,Q8IUS6 Hs.437167 GDB:10796191 INSSA3|MGC149473 protein-coding 70370 AQP2 aquaporin 2 (collecting duct) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant, and recessive forms of nephrogenic diabetes insipidus. 734596,1580863,1601243 7532304,8140421,17763164,17636261,17550212,17192724,16979638,16968783,16902321,16845277,16825342,16580609,16563128,16483614,16449354,16288724,16221200,16159898,16049696,15956775,15922355,15703994,15489334,15458431,15155571,15100362,15012730,14702039,14662748,14593099,14514735,12819016,12787389,12631357,12566732,12477932,12208541,12194985,12191971,12051765,12050236,12021537,11929850,11536078,11509828,11456273,11297561,11076974,10710543,10372737,9745427,9649557,9550615,9402087,9373149,9302264,9268644,9048343,8882880,8125298,7525161,7524315,7522228,7512890,7510718 734596,1601243 359 NM_000486,AC025154,AF147093,CH471111,D31846,Z29491,AK055824,AK225940,BC042496,CR542024,S73196,S73197 NP_000477,AAD38692,EAW58109,BAA06632,CAA82627,AAH42496,CAG46821,AAB31999,AAB31998,P41181,Q6FGT3 Hs.130730 GDB:141853 AQP-CD|MGC34501|WCH-CD aquaporin 2 protein-coding 68638 AQP3 aquaporin 3 (Gill blood group) Aquaporin 3 is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. 704374,704407,1580863 17471492,17056099,16918518,16672223,16638588,16043462,15703994,15489334,15375592,15164053,14702039,14675200,14514735,12773542,12769265,12477932,12239222,12234316,11918716,11751877,9558461,9525951,8641135,7558005,7543093,18036046,17968524,17943189 704374,704407 360 NM_004925,NG_007476,AL356218,CH471071,D50486,DQ083949,AB001325,AJ493597,AK095363,AK292208,BC012988,BC013566,BT007199,CR541991,CR542025,CR592288,CR598676,CR599072,CR599108,CR604170,CR607893,CR614710,CR624600 NP_004916,CAI13311,EAW58500,EAW58501,EAW58502,EAW58503,EAW58504,BAA09077,AAY68214,BAA19237,CAD38526,BAF84897,AAH13566,CAG46788,CAG46822,Q6FGT2,Q92482,AAP35863 Hs.234642 GDB:371718 GIL aquaporin 3 protein-coding 735519 AQP4 aquaporin 4 This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. The encoded protein is the predominant aquaporin found in brain. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 730277,1580863 8855281,7528931,7559426,18309154,18071147,18019416,17984171,17899684,17890008,17549682,17335082,16871401,16831965,16814974,16778375,16194264,16133546,16103109,15489334,15200272,14753493,14627352,12715185,12477932,12137754,12107411,11890849,11742978,11717465,11408278,11245621,9824541,9676432,9373149,8617713,8601457,8125298 730277 361 NM_004028,AC018371,CH471088,U63613,AB128929,AB209156,AK026728,AK222684,AL119338,AL138136,AV725241,BC022286,NM_001650,BC030745,BC045780,BI596912,BI667387,BI917845,BQ638704,CD105892,CK001094,D63412,N50070,R35726,U34845,U63622,U63623 NP_001641,NP_004019,EAX01228,EAX01229,AAG17964,BAD22823,BAD92393,BAD96404,AAH22286,BAA09715,AAC50284,AAB26957,AAB26958,P55087,Q53H97,Q59GF3,Q6L7A0,Q9H3V7 Hs.315369 GDB:371722 HMIWC2|MGC22454|MIWC protein-coding 70371 AQP5 aquaporin 5 Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. 727251,1580863 12565800,12477932,11773623,11408278,11245621,10476940,9268644,8621489,18305162,18215141,18042467,17553491,17043812,16537379,16500622,16341674,16189514,15489334,12801959 727251 362 CR542022,CR601707,CR625526,NM_001651,AC025154,CH471111,U46569,BC032946,BC034356,BQ083334,CR541989 CAG46786,CAG46819,P55064,Q6FGW8,ABM82149,ABM85332,NP_001642,EAW58110,AAC50474,AAH32946 Hs.298023 GDB:371724 protein-coding 737143 AQP6 aquaporin 6, kidney specific The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. 1580863 8812490,12477932,12177001,9268644 363 NM_001652,AC025154,CH471111,U48409,AL137716,BC065275,U48408 NP_001643,EAW58111,AAB41567,CAB70889,AAB41566,Q13520,Q9NSV5,AAI56044,AAI56930 Hs.54505 GDB:3801882 AQP2L|KID aquaporin 6 protein-coding 736375 AQP7 aquaporin 7 Aquaporins/major intrinsic protein (MIP) are a family of water-selective membrane channels. Aquaporin 7 has greater sequence similarity with AQP3 and AQP9 and they may be a subfamily. Aquaporin 7 and AQP3 are at the same chromosomal location suggesting that 9p13 may be a site of an aquaporin cluster. Aquaporin 7 facilitates water, glycerol and urea transport. It may play an important role in sperm function. 69753,1580863,1626292,1626289 9405233,17566090,17562358,17351148,16325777,15252450,15164053,14702039,12477932,11952783,9931374,9824541,9714739,9252401 69753,1626292,1626289 364 AB052626,AL356218,CH471071,AB006190,AK055744,BC062701,BC119672,BC119673,DQ786216,NM_001170 NP_001161,BAC05693,CAI13302,CAI13303,CAI13306,CAI13307,CAI13308,CAI13309,EAW58505,EAW58506,BAA21745,AAH62701,AAI19673,AAI19674,O14520,Q08E94,Q5T5L3,Q5T5L4,Q5T5L5,Q5T5M1,Q6P5T0 Hs.455323 GDB:6044880 AQP7L|AQP9|AQPap|MGC149555|MGC149556 protein-coding 1603335 AQP7P1 aquaporin 7 pseudogene 1 12477932,11952783 375719 NR_002817,AB052627,AB052630,AL845321,AK128231,BC052332 BAC87341,Q6NSA8,Q6ZRG9 Hs.658215 bA251O17.3 pseudo 1601913 AQP7P2 aquaporin 7 pseudogene 2 12477932,11952783 389756 NR_002823,AL137070,AL445665,BC070322 CAD13298,AAH70322,Q8WX69 Hs.658215 pseudo 1604890 AQP7P3 aquaporin 7 pseudogene 3 11952783 441432 NG_005142,AC129778,AL136317 AQPap-3 pseudo 737411 AQP8 aquaporin 8 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. 1580863 9806845,17461471,15489334,12712100,12477932,9373149,9325099,8125298,11717661,11329013,11231887,10393433 343 NM_001169,AC008741,CH471145,AB013456,AF067797,AK222964,AK222975,BC040630,BG221545 NP_001160,EAW55769,EAW55770,BAA34223,AAF19050,BAD96684,BAD96695,AAH40630,O94778,Q53GF6 Hs.176658 GDB:6268335 protein-coding 735505 AQP9 aquaporin 9 The aquaporins are a family of water-selective membrane channels. The protein encoded by this gene allows passage of a wide variety of noncharged solutes. It stimulates urea transport and osmotic water permeability; there are contradicting reports about its role in providing glycerol permeability. The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. 1580863 9733774,9514918,17525633,17346701,17081983,16480766,15592307,15489334,15336539,12681500,12477932,11597198,11466204,10564231 366 NM_020980,AC025431,AC066616,AF102870,CH471082,AB008775,AF016495,BC026258,BE042553,CB528930,CR542027,DC410284 NP_066190,AAF27983,EAW77532,EAW77533,EAW77534,BAA24864,AAF16677,AAH26258,CAG46824,O43315,Q6FGT0 Hs.104624 GDB:6860465 HsT17287|SSC1 protein-coding 1314717 AQR aquarius homolog (mouse) 16949364,15489334,14702039,12477932,11991638,9628581,9626505 9716 NM_014691,AC018868,CH471125,AB011132,AK001173,AK291615,AK315815,AL703893,BC027452,BC036913,BC070379,BC108262,BC127111,BC127112,BX647820,BX648611,CR608508,EF553519 NP_055506,EAW92319,EAW92320,EAW92321,BAA25486,BAF84304,BAF98706,AAH36913,AAH70379,AAI08263,AAI27112,AAI27113,ABQ66265,O60306 Hs.510958 DKFZp686B23123|IBP160|KIAA0560 protein-coding 735652 AR androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. 1578680,1578681,1578682,1578683,1578684,1578685,1578686,1578687,1578688,1578689,1578690,1331525,1601244,1601246,1580863,1601245,1643344,1643341,1643343,1643345 18477206,18415690,18390176,18385763,18365230,18349820,18323476,18303071,18284209,18284208,18281521,18281036,18273818,18270433,18263633,18252782,18222118,18217192,18212060,18212046,18202763,18196538,18192296,18191848,18187183,18181049,18178153,18174258,18172316,18084622,18070607,18007036,10075738,15572661,11875111,10835690,18484228,18483883,18483761,17984247,17979523,17975004,17974989,17972531,17968460,17940184,17937062,17932503,17932034,17926464,17922225,17916185,17914092,17906287,17904846,17889867,17873892,17855696,17785571,17728669,17728259,17728127,17721441,17712477,17706202,17704139,17698582,17696745,17684052,17671686,17669147,17659846,17656415,17653089,17651405,17635910,17634427,17627815,17613104,17611654,17601880,17587566,17585029,17579205,17570496,17569297,17568191,17563746,17553795,17541959,17540719,17991730,17538927,17534890,17522416,17522055,17507624,17503469,17496156,17494760,17487836,17477366,17476687,17470458,17465263,17453687,17452459,17431729,17426252,17416965,17413000,17376218,17372242,17365134,17363459,17356171,17342749,17336451,17334597,17334587,17334586,17322500,17321486,17262801,17259306,17257635,17256155,17244640,17242169,17241382,17230529,17217995,17187234,17178887,17178871,17170703,17160687,17116317,17108148,17082327,17077481,17075604,17074594,17073759,17073749,17065579,17055455,17054461,17043241,17034507,17015840,17011549,17010601,17003774,16987421,16980632,16969583,16969502,16957138,16950754,16923962,16921507,16920725,16918952,16914734,16868150,16865726,16865224,16860317,16859836,16847812,16835890,16813680,16809273,16793958,16791593,16774685,16759930,16759824,16725394,16720717,16705072,16690616,16647340,16645039,16644868,16641486,16627595,16609370,16601069,16595706,16583221,16569551,16515589,16494870,16479009,16474850,16470553,16467955,16461912,16449965,16449235,16446741,16437189,16433248,16425262,16425097,16400085,16384856,16382684,16377095,16373395,16373394,16368182,16365681,16365032,16365023,16365013,16358333,16352666,16317584,15890890,15888966,15887248,15876692,15835798,15833816,15827868,15827323,15824176,15817010,15810021,15809670,15790678,15784617,15774258,15772083,15757859,15754350,15731171,15721279,15711606,15704521,15695110,15665279,15654614,15640154,15634333,16299230,16282370,16278385,16273319,16254899,16244490,16210365,16210317,16195823,16187285,16172197,16172040,16166332,16166078,16161052,16161040,16123086,16120611,16117826,16112495,16098017,16079795,16046054,16039774,15994977,15988382,15963062,15956082,15954500,15952987,15950642,15948728,15934454,15919721,15902657,15900601,15894683,15215582,15205473,15201804,15199155,15178691,15171708,15156193,15136785,15131260,15129430,15123687,15120698,15118070,15117901,15109605,15107424,15091318,15062556,15061984,15053245,15046097,15044606,15042597,15031286,15028622,15023052,15013685,15001585,15617028,15609126,15609040,15599941,15598771,15598662,15585562,15579779,15570555,15563469,15558026,15557561,15545219,15542435,15541640,15539430,15536520,15536156,15630701,15534116,15533905,15522925,15519887,15514032,15479493,15472231,15472213,15389799,15378650,15377647,15376484,15368471,15361837,15358199,15350307,15341991,15337466,15328534,15310009,15302512,15266301,15264247,15256534,15239671,15229204,14662770,14652007,14646391,14645241,14641003,14627807,14612401,14609956,14585317,14573323,14519624,14517714,14517289,14511406,14511217,14511213,14504193,12970746,12958311,12949936,12941817,12941811,12933816,12925954,12923188,12908100,12895004,12890669,12879219,12877254,12860943,12843184,12843171,12824190,12810069,12804609,12802043,12799378,12788064,12779088,12775722,12771131,12767946,12755998,12750453,12727953,12714604,12712467,12682292,12668243,12651911,12649062,14999487,14985354,14981536,14974917,14974091,14973115,14968432,14966297,14966121,14963700,14769635,14755454,14744796,14743468,14742287,14734264,14726805,14713779,14698481,14693242,14691592,14668339,14667996,14667136,14664704,14663470,12648179,12637980,12634316,12632109,12629350,12612053,12606125,12602915,12602902,12593895,12591938,12588987,12586762,12582022,12573820,12569365,12568409,12559985,12542725,12534937,12534934,12532336,12532157,12514133,12499384,12482965,12481545,12477932,12466388,12465595,12441355,12415108,12404104,12399527,12394768,12390340,12389206,12385020,12376504,12376473,12372281,12370109,12361945,12230620,12226080,12220434,12218053,12213902,12202660,12200228,12189490,12177000,12165860,12163482,12161011,12161010,12146732,12145204,11585838,11571732,11571725,11564035,11550169,11547131,11545293,11543741,11518799,11509567,11474658,11456479,11439351,11437399,11416139,11409695,11404460,11397855,11396978,11396657,11389183,11280774,11278763,11278661,11278309,11266437,11231320,11221880,11172827,11156376,11155740,11140838,11121205,11121022,11117529,11103816,11096094,11085988,11085509,11079451,11074602,11071847,11050077,11016951,10965917,10961928,10953010,12124798,12119296,12115497,12111704,12101115,12089361,12089345,12085360,12083956,12061774,12051960,12050225,12042281,12039962,12036913,12031042,12015328,12011088,11994312,11981028,11971970,11971763,11967956,11956643,11940333,11935317,11931767,11927493,11923466,11923464,11916967,11906285,11903314,11896058,11894978,11894977,11889162,11877418,11861380,11856748,11854421,11847524,11845321,11818512,11818501,11804942,11803263,11795379,11792931,11792840,11788641,11779876,11774215,11751884,11751688,11748221,11747336,11744994,11739747,11735420,11720249,11719514,11719263,11701709,11682623,11600555,11595700,11591424,11591412,11587068,10930412,10903152,10894149,10840043,10809237,10779504,10734072,10706109,10690872,10669760,10654935,10629558,10625666,10617653,10611280,10598582,10590024,10571951,10569618,10567563,10543676,10521447,10517667,10508170,10480874,10470409,10458483,10428808,10404311,10400640,10383460,10364196,10363963,10344732,10332029,10323385,10221770,10221692,10092153,10085091,10022458,9920921,9892017,9891052,9856504,9851768,9834454,9816170,9788719,9768671,9762004,9725910,9717843,9710597,9698822,9675141,9671457,9627582,9610419,9607727,9565586,9544375,9543136,9535906,9482849,9438000,9433917,9417052,9368054,9329414,9328206,9302173,9255042,9252933,9211894,9208847,9196614,9184448,9162033,9160185,9115274,9111344,9106550,9096391,9039340,9016528,9007482,9001799,9000575,8990010,8918984,8872471,8830623,8827083,8824883,8823308,8809738,8809734,8798722,8798655,8798622,8768864,8723113,8683794,8647313,8643607,8628719,8626869,8626669,8568474,8550758,8530589,8450042,8450040,8446106,9238003,8413310,8349631,8325950,8325932,8292051,8281140,8281139,8274409,8240973,8224266,8213813,8205256,8187068,8162033,8145761,8126121,8108393,8107809,8103398,8097257,8096390,8051160,2082179,2062380,2010552,1999491,1856263,1775137,1720929,1631125,1609793,1569163,1562539,1525041,1487249,1480178,1464650,1458719,1430233,1426313,1424203,1316540,1307250,1303262,15691881,9822653,11266503,14593076,12612084,15525515,14729952,11504717,12943985,12874288,15466214,10607837,11673464,1540595,15684378,10318905,9636157,11856738,11322786,15027889,11032808,8040309,8033918,7993455,7981689,7981687,7970939,7962294,7937057,7929841,7910529,7909256,7890635,7723794,7712463,7673412,7671849,7649358,7641413,7633398,7626493,7591265,7581399,7537149,7511268,3377788,3353727,3353726,3216866,3186717,3174628,2917688,2911578,2594783,2563196,2546571,2380187,2342476,2339702,2332504,2293020,2260966,15661808,9813067,11707452,12944908,15305378,15288768,12864730,11792709,14695896,2437,12140757,12621049,10454563 1578680,1578681,1578682,1578683,1578684,1578685,1578686,1578687,1578688,1578689,1578690,1331525,1601244,1601246,1601245,1643344,1643341,1643343,1643345 367 NM_001011645,AL049564,AL158016,AL356358,AX453758,CH471132,M27430,M35851,M58158,S79366,S79368,U16371,AF162704,AF321914,AF321915,AF321916,AF321917,BC132975,L29496,M20132,M20260,M21748,M23263,M34233,M73069,NM_000044 NP_000035,NP_001011645,EAX05380,AAA51886,AAA51772,AAA51778,AAB21256,AAB21257,AAB60346,AAD45921,AAK09423,AAK09424,AAK09425,AAK09426,AAI32976,AAA51770,AAA51729,AAA51774,AAA51771,AAA51775,AAA51780,AAA51735,P10275,Q13771,Q5JUN9,Q9BZG5,Q9BZG6,Q9BZG7,Q9NUA2,Q9UD95,Q9UN21 Hs.496240 GDB:120556 AIS|DHTR|HUMARA|KD|NR3C4|SBMA|SMAX1|TFM androgen receptor protein-coding 1348364 ARAF v-raf murine sarcoma 3611 viral oncogene homolog 11909642,12620389,17353931,3029685,17603482,17535970,17081983,16980614,16964243,16344560,16189514,15772651,15763428,15736953,15489334,15324660,14688025,14684750,12477932,11952167,11812000,10967104,10848612,9110174,9042965,8621729,8619474,8394352,8157000,8020955,7731720,3529082,2717185,1262038 369 NM_001654,CH471164,L24038,U01337,Z84466,AB158254,AB208831,AK130043,BC002466,BC007514,BT019864,DA264472,M13829,X04790,AF052136 NP_001645,EAW59310,EAW59311,EAW59312,AAA65219,AAB03517,CAI42468,CAI42469,BAE66645,BAD92068,AAH02466,AAH07514,AAV38667,AAB08754,CAA28476,P10398,Q59HC8,Q5H9B2,Q96II5,ABM83582,ABM86822 Hs.446641 GDB:119004 A-RAF|ARAF1|PKS2|RAFA1 protein-coding 1606341 ARAFPS v-raf murine sarcoma 3611 viral oncogene homolog pseudogene 8020955,2717185,1505215 370 NG_001074,L24037 ARAF2|ARAF2P|PKS1 pseudo 730952 ARC activity-regulated cytoskeleton-associated protein 734603 18087040,17120280,16189514,15489334,12477932,11117363,10970730,9039502,15103018 734603 23237 NM_015193,AC139676,AF248637,AP006547,CH471162,AF193421,BC012321,BC075802,BI752734,D87468 NP_056008,AAG33705,EAW82320,EAW82321,AAF07185,AAH12321,AAH75802,BAA19667,Q7LC44,ABM84592,ABM86706 Hs.40888 GDB:9785446 KIAA0278 protein-coding 1344658 ARCN1 archain 1 This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. 1580863 16956762,7782067,11031247,8533093,8599108,15489334,12477932,12388752,8940050,8854871,8355790,1898986,9482852 372 NM_001655,AP000941,CH471065,BC064936,BC080638,BC093636,BC093638,BI560739,BQ018687,BX640860,CR592091,CR619909,X81197,X81198 NP_001646,EAW67397,EAW67398,EAW67399,AAH64936,AAH93636,AAH93638,CAE45922,CAA57071,CAA57072,P48444,Q6MZV5,Q6P1Q5 Hs.33642 GDB:377806 COPD protein-coding 1344946 ARCN2 archain 2 371 GDB:377807 1349422 ARD1A ARD1 homolog A, N-acetyltransferase (S. cerevisiae) N-alpha-acetylation is one of the most common protein modifications that occurs during protein synthesis and involves the transfer of an acetyl group from acetyl-coenzyme A to the protein alpha-amino group. ARD1A, together with NATH (NARG1; MIM 608000), is part of a major N-alpha-acetyltransferase complex responsible for alpha-acetylation of proteins and peptides (Sanchez-Puig and Fersht, 2006 [PubMed 16823041]).[supplied by OMIM] 1580863 7981673,15496142,11256614,17161380,17081983,16964243,16823041,16518407,16381901,16376303,16288748,16279846,16189514,15994306,15755738,15749829,15489336,15489334,12888564,12477932,12464182,11393533,11076863,9286695 8260 NM_003491,CH471172,AY183134,AY183135,BC000308,BC019312,BC063377,CR591543,CR602528,CR612890,X77588 NP_003482,EAW72773,EAW72774,EAW72775,EAW72776,AAH00308,AAH19312,AAH63377,CAA54691,P41227,Q0JS12,Q6P4J0,CAL37430,CAL38702 Hs.433291 GDB:9958822 ARD1|DXS707|MGC71248|TE2 ard1 homolog, n-acetyltransferase (s. cerevisiae) protein-coding 1625645 ARD1B ARD1 homolog B (S. cerevisiae) 16638120,12477932 84779 NM_032693,AC023277,AC108466,CH471057,BC004552,BC063623,BC080651,CR605070 NP_116082,EAX05841,AAH04552,AAH63623,AAH80651,Q9BSU3 Hs.676048 ARD2|MGC10646|hARD2 protein-coding 1345760 AREG amphiregulin (schwannoma-derived growth factor) The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells, and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). This protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells and inhibits the growth of certain aggressive carcinoma cell lines. This encoded protein is associated with a psoriasis-like skin phenotype. 1578719,1578721,1580863,1578718,2289950,2292662,2292664,2292660,2292661,2292663,2289980,2292658,2292659,2292665,2292668 2466334,3413110,18045238,17962208,17960400,17942395,17548638,17525275,17035230,16888076,16713569,16641105,16470170,16336275,16213893,16207795,16088955,15955087,15767261,15735670,15696083,15696081,15685553,15489334,15474502,15284208,15254267,15186320,14633617,12743035,12711607,12568494,12477932,12370739,12356750,11942969,11859273,11719440,11507076,11494130,11469683,11038170,10490105,10424781,10389762,10085134,9410906,7698025,2325643,2234093,2017164,1333777,16189514 1578719,1578721,1578718,2289950,2292662,2292664,2292660,2292661,2292663,2289980,2292658,2292659,2292665,2292668 374 AC021180,AY442340,CH471057,M30698,M30699,M30700,M30701,M30702,M30703,BC009799,BC146953,NM_001657,BC146967,BT019866,CR606995,CR608053,CR617114,M30704 NP_001648,AAR05438,EAX05710,AAA51773,AAH09799,AAI46954,AAI46968,AAV38669,AAA51781,P15514,Q5U026,ABM83816,ABM87136 Hs.270833 GDB:119697 AR|CRDGF|MGC13647|SDGF protein-coding 1353880 ARF1 ADP-ribosylation factor 1 ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 17112341,16912072,16710414,16669702,16545942,16381901,16341674,16308272,16169070,15876864,15814706,15793564,15781476,15684379,15680326,15581351,15489336,15489334,15336557,15308674,15107860,14676827,14665636,14636574,12799371,12636914,12519790,1577740,9819391,14654833,14690595,8529647,16956762,11031247,8533093,8599108,10402461,15202998,17981261,17693410,17555535,17451557,12509462,12477932,11926829,11914273,11726511,11707398,11703931,11301005,11297540,11278939,15944734,14654841,10921873,10858454,10828067,10801846,10749932,10747863,10747089,10720466,10623590,10589680,10318838,10212218,10102276,10022920,9756891,9733781,9688545,9653114,9417041,9197239,9110174,9038142,8661066,8619474,8288610,7990966,7990146,7898460,7552752,2474826,2105501,1899243,1680566,11373276,16189514,11076863 375 NM_001658,NM_001024227,NM_001024228,AL136379,CH471098,M84327,M84332,AF052179,AF055002,AF493881,NM_001024226,CR611072,CR611570,CR611972,CR612002,CR612413,CR612528,CR612960,CR613039,CR614172,CR614731,CR614806,CR614966,CR615761,CR615857,CR616732,CR617557,CR618135,CR618770,CR618777,CR618870,CR619973,CR620094,CR621987,CR622091,CR622211,CR622881,CR623360,CR625666,CR626279,M36340,M84326,CR609483,AK000620,AK057838,AK057875,AK130737,BC009247,BC010415,BC010429,BC011358,BF337061,BG421840,BM353046,BM844480,BQ935470,BQ949763,BT007393,CR589969,CR591924,CR592022,CR592538,CR592765,CR593141,CR593577,CR594931,CR595265,CR596360,CR596382,CR598062,CR598776,CR598895,CR599498,CR600476,CR601958,CR603234,CR603317,CR603607,CR603771,CR603926,CR605225,CR605331,CR605630,CR605726,CR607298,CR608050,CR608837,CR609071,CR609092 NP_001019397,NP_001649,NP_001019398,NP_001019399,CAI23120,EAW69831,EAW69832,EAW69833,EAW69834,EAW69835,EAW69836,AAA35511,AAC28623,AAC09356,AAA35552,AAA35512,P84077,Q0JSC6,CAL38139,AAM12595,AAH09247,AAH10429,AAH11358,AAP36057,CAL38339,CAL38472,CAL38588 Hs.286221 GDB:132606 protein-coding 1606063 ARF1P1 ADP-ribosylation factor 1 pseudogene 1 442334 NG_005537,AL157375,CH236949 Q9H516 ARF1 pseudo 1345639 ARF2 ADP-ribosylation factor 2 376 GDB:364040 1354397 ARF3 ADP-ribosylation factor 3 ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. The ARF3 gene contains five exons and four introns. 2105501,1577740,1447192,12221117,16189514,11124697,2474826,8947846,1744102,16713569,16396496,15489334,12477932,12135740,12090300,10828067,10749927,10623590,10506747,10413101,9038142,8661066,8491770,8473323,8355790 377 NM_001659,AC073610,CH471111,M74492,M74493,AF493882,AK291633,BC007647,BC007762,BC017565,BC028402,BM966960,BT006670,CR607986,M33384,M74491 NP_001650,EAW58025,EAW58026,EAW58027,AAA58359,AAM12596,BAF84322,AAH07647,AAH07762,AAH17565,AAH28402,AAP35316,AAA83931,AAB59425,P61204 Hs.119177 GDB:132649 protein-coding 1352328 ARF4 ADP-ribosylation factor 4 This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. 1580863 1447192,1899243,2107548,16344560,15489334,15049518,12477932,12446727,11481332,10828067,10593962,10524252,10099884,9180902,8491770,8355790,7956370,2105501 378 AC092418,AC114480,AF104238,CH471055,AF493883,BC003364,BC008753,BC016325,BC022866,CR591127,CR591617,CR592933,NM_001660,CR595935,CR596585,CR597516,CR607207,CR607867,CR611196,CR611234,CR615713,CR618819,CR622582,CR625816,CR625897,DA259855,M36341,U91920,U91921 NP_001651,AAD54674,EAW65344,AAM12597,AAH03364,AAH08753,AAH16325,AAH22866,AAA53081,P18085,ABM85008,ABW03653 Hs.695943 GDB:132646 ARF2 protein-coding 1348063 ARF4P ADP-ribosylation factor 4 pseudogene 2107548 380 M31889,NG_001075,AC000387,AL591386 GDB:132647 pseudo 1351076 ARF4P2 ADP-ribosylation factor 4 pseudogene 2 170485 NG_001031,AL035669 GDB:11505641 dJ885L7.7 pseudo 1602801 ARF4P3 ADP-ribosylation factor 4 pseudogene 3 390423 XR_016412,XM_001719440,XR_018346,AL356732,CH471085 XP_001719492,EAX09044 Hs.641837 protein-coding 732462 ARF5 ADP-ribosylation factor 5 ADP-ribosylation factor 5 (ARF5) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. The ARF5 gene spans approximately 3.2kb of genomic DNA and contains six exons and five introns. 1993656,12690205,12477932,11926829,11535061,10828067,10749932,10593962,10589680,10022920,9169151,9038142,8491770,8355790,2105501,1447192,16189514 381 P84085 NM_001662,AC000357,CH236947,CH471070,U73002,AF493884,BC003043,BC033104,BT007087,CR592093,CR592940,CR598890,CR610040,CR614865,CR618126,CR618415,CR619021,CR619769,CR624513,CR624558,CR625466,CR625498,M57567,CR619680 NP_001653,EAL24320,EAW83630,EAW83631,AAC51299,AAM12598,AAH03043,AAH33104,AAP35750,AAA90927,P84085 Hs.653202 GDB:136902 protein-coding 734181 ARF6 ADP-ribosylation factor 6 This gene encodes a member of the human ARF gene family, which is part of the RAS superfamily. The ARF genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The product of this gene is localized to the plasma membrane, and regulates vesicular trafficking, remodelling of membrane lipids, and signaling pathways that lead to actin remodeling. A pseudogene of this gene is located on chromosome 7. 14659046,14625293,14607973,12902467,12860984,12847086,12799371,12526811,12477932,12379803,12032069,12016212,11926829,11867621,11535061,11533043,11278939,11266366,11042152,10749932,10589680,10343114,10022920,9653160,9461590,9417041,8491770,8355790,7990966,7898460,7855600,10913182,1993656,9312003,10036235,8702973,18084281,18000860,17719203,17640372,17628206,17623778,17461797,17157409,17122362,17077126,16737952,16669702,16545942,16527809,16484220,16461286,16344560,16341674,16213822,16099990,15897187,15817676,15802264,15590645,15489334,15231847,15210957,15087504,14675422,14662749,7589240,2105501,15465916,14617802,15638726,17353931,16189514,10480924 382 NM_001663,AL627171,AY296206,CH471078,AF047432,AF493885,AL117621,AL121163,BC002952,BC008918,BC030291,BM838197,BT019868,CR541939,CR541964,CR619019,DA217686,M57763 NP_001654,AAP50257,EAW65740,AAC39877,AAM12599,AAH08918,AAV38671,CAG46737,CAG46762,AAA90928,P62330,Q5U025,Q6FGZ2,Q6FH17 Hs.525330 GDB:136907 DKFZp564M0264 protein-coding 1352175 ARFGAP1 ADP-ribosylation factor GTPase activating protein 1 The protein encoded by this gene is a GTPase-activating protein (GAP) which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1 (ARF1). The encoded protein promotes hydrolysis of ARF1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16956762,11031247,8533093,16964243,16571680,16316994,15790807,15489334,15302935,15246431,14702039,12477932,12379802,12181329,11780052,11703931,11210549,10704287,9733781,9476900,9405360,9373149,8125298,7969419,16189514 55738 NM_175609,NM_018209,CH471077,AB015340,AK001629,AK027268,AK027441,AK095048,AK123367,AK223427,AL137744,AY927573,BC000786,BC006085,BC011876,BC028233,BC127893 NP_783202,NP_060679,EAW75290,EAW75291,EAW75292,EAW75293,EAW75294,EAW75295,EAW75296,BAA88117,BAA91796,BAB55009,BAB55113,BAD97147,CAB70901,AAH00786,AAH06085,AAH11876,AAH28233,Q53F62,Q8N6T3 Hs.25584 GDB:11505639 ARF1GAP|HRIHFB2281|MGC39924 protein-coding 1344539 ARFGAP3 ADP-ribosylation factor GTPase activating protein 3 The protein encoded by this gene is a GTPase-activating protein (GAP) which associates with the Golgi apparatus and which is thought to interact with ADP-ribosylation factor 1 (ARF1). The encoded protein likely promotes hydrolysis of ARF1-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. 1580863 11172815,17760859,17081983,15761153,15489334,15461802,14702039,12529303,12477932,10704287,10591208,8076819 26286 NM_014570,AL049757,AL049758,CH471138,AF111847,AK002083,AK022768,AL137598,AL159143,BC005122,BC041383,BI547713,CA431867,CR456382,CR601151 NP_055385,CAI20950,EAW73275,EAW73276,AAF40310,BAA92076,BAB14236,CAB70834,CAB76901,AAH05122,CAG30268,Q9NP61,CAK54371,CAK54670,ABM83933,ABM87252 Hs.162877 GDB:10795365 ARFGAP1 protein-coding 1348298 ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for the guanine-nucleotide exchange activity and also the brefeldin A inhibition. 1580863 15644318,10212200,18203920,17360629,17227842,17081983,17079330,16467138,14973189,14702039,12606707,11013081,10393931,8917509,8889548,10716990 10565 NM_006421,AC021321,AC087359,CH471068,AB209324,AF084520,AF111162,AI523655,AI797683,AK001788,AK022557,AK025637,AK127799,AL117446,BE048435,CA314908 NP_006412,EAW86935,EAW86936,BAD92561,AAD38427,AAD43651,BAA91912,CAB55931,Q59FY5,Q9Y6D6 Hs.656902 ARFGEP1|BIG1|D730028O18Rik|DKFZP434L057|P200 protein-coding 736641 ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. 1300288,1580863 10212200,12571360,17360629,17276987,17081983,16320251,15705715,15302935,15231748,14702039,14647276,12477932,12051703,11780052,11777925,11665623,11013081,10716990,12606707 1300288 10564 NM_006420,AL049537,AL121903,CH471077,AB209397,AF084521,AK022623,AK074303,BC050449 NP_006411,EAW75680,EAW75681,BAD92634,AAD38428,AAH50449,Q59FR3,Q86TH5,Q9Y6D5 Hs.62578 GDB:9957664 BIG2|FLJ23723|dJ1164I10.1 protein-coding 732747 ARFIP1 ADP-ribosylation factor interacting protein 1 (arfaptin 1) 1580863 12606037,9038142,16396496,15489334,15146197,14702039,12477932,11337467,10413101,9694811 27236 NM_001025595,NM_001025593,NM_014447,AC099339,AC106882,AC113155,CH471056,AF124489,AK096509,AK290472,AU099007,BC103759,BC105114,BC105116,CB127228,CN305403,CR602975,U52521 NP_001020766,NP_001020764,NP_055262,EAX04968,EAX04969,EAX04970,EAX04971,EAX04972,AAD29390,BAC04806,BAF83161,AAI03760,AAI05115,AAI05117,AAA97923,P53367,Q2M2X4,Q8N8M9 Hs.416089 HSU52521|MGC117369 protein-coding 1349532 ARFIP2 ADP-ribosylation factor interacting protein 2 (arfaptin 2) 1580863 11854752,11478794,11346801,9038142,12972563,8670882,9312003,16189514,15809304,15489334,12477932 23647 NM_012402,AC084337,CH471064,AK026390,AW612115,BC000392,BG745048,BM928413,CR590849,CR597929,CR598632,CR599738,CR603783,CR606576,CR610961,CR615705,CR620301,CR621163,CR624466,CR625862,U52522,X97567 NP_036534,EAW68707,EAW68708,AAH00392,AAA97924,CAA66179,P53365,ABM82893,ABM86082 Hs.75139 POR1 protein-coding 732355 ARFRP1 ADP-ribosylation factor related protein 1 The protein encoded by this gene is a membrane-associated GTP-ase and localizes to the plasma membrane. It is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) genes. The gene is located in a gene cluster that includes the a gene (M68) that is overexpressed in some tumors. 727256,1580863 8530503,11438518,17127620,16129887,15761153,15489334,15077113,14702039,12477932,11780052,10655513,10092663 727256 10139 CR598656,CR602635,CR602845,CR606714,CR613687,CR614799,CR616488,CR622794,CR623922,CR626595,CR626804,X91504,CR596566,NM_003224,AF217796,AL121845,CH471077,AK095962,AL833084,BC021023,BC092480,BC093967,BI524032,BI711667,BM549361,BT019624,BT019663,CR456752,CR590403,CR591044,CR595028,CR596379 CAA62804,Q13795,Q9BQK5,Q9BQK6,NP_003215,AAF35246,CAC03669,CAC28316,CAC28317,EAW75230,EAW75231,EAW75232,EAW75233,EAW75234,EAW75235,EAW75236,EAW75237,AAH92480,AAH93967,AAV38430,AAV38469,CAG33033 Hs.389277 GDB:1318811 ARL18|ARP|Arp1 protein-coding 1353986 ARG1 arginase, liver Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. 1580863,1599208,1599211 3540966,17934065,17469833,17369504,17347269,17255300,17119118,17113085,16720041,16709958,16387594,15998894,15489334,14702039,14574404,12477932,12139964,12115381,12083807,11849441,11750286,11224628,10542097,10502833,9686347,7649538,3752085,3658675,3174433,2913054,2365823,2241902,1598908,1463019 1599208,1599211 383 NM_000045,NG_007086,AL121575,CH471051,X12662,AK128314,AY074488,BC005321,BC020653,BT006741,CR615342,M14502 NP_000036,CAB92071,CAI23317,CAI23318,EAW48053,EAW48054,EAW48055,EAW48056,CAA31188,AAL71547,AAH05321,AAH20653,AAP35387,AAA51776,P05089,ABM82965,ABM86156 Hs.440934 GDB:119006 protein-coding 732329 ARG2 arginase, type II Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exists (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type II isoform encoded by this gene, is located in the mitochondria and expressed in extra-hepatic tissues, especially kidney. The physiologic role of this isoform is poorly understood; it is thought to play a role in nitric oxide and polyamine metabolism. Transcript variants of the type II gene resulting from the use of alternative polyadenylation sites have been described. 734607,1580863,1300048,1626297,1626296,1626298 9144563,8898077,18202758,17353439,16720041,16675494,16387594,16128822,15955070,15489334,15364894,12859189,12477932,11849441,11370664,9686347,9256072,8954792 734607,1626297,1626296,1626298 384 NM_001172,AL049779,AL132640,CH471061,AL135439,AY074489,BC001350,BC008464,BC029050,CR536550,CR595402,CR595481,CR598558,CR625558,D86724,U75667,U82256 NP_001163,EAW80943,EAW80944,AAL71548,AAH01350,AAH08464,AAH29050,CAG38787,BAA13158,AAB39855,AAC51664,P78540 Hs.708024 GDB:3761274 arginase 2 protein-coding 1605759 ARGFX arginine-fifty homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. 17005330 503582 NM_001012659,AC069239,BX282631 NP_001012677,A6NJG6 Hs.224976 protein-coding 1605758 ARGFXP1 arginine-fifty homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. 17005330 503583 NG_004853,AC093267 pseudo 1602609 ARGFXP2 arginine-fifty homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the ARGFX homeobox gene family. 17005330 503640 NR_002222,AC116407 pseudo 1605984 ARGLU1 arginine and glutamate rich 1 15302935,14702039,12477932 55082 NM_018011,AL442127,CH471085,AA445997,AI623424,AK001016,BC030508,BC050434,BC071587,CR625403,CR936748,DB482545 NP_060481,CAI13166,CAI13167,CAI13168,EAX09086,EAX09087,BAA91467,AAH50434,AAH71587,Q9NWB6 Hs.508644,Hs.701016 DKFZp686O08106|FLJ10154|RP11-297I6.1 protein-coding 1314470 ARHGAP1 Rho GTPase activating protein 1 1580863 12944407,15652341,1905930,1903516,8253717,12901880,8288572,16189514,15588985,15489334,15282546,15262974,15169898,14724572,14718574,14702039,14697242,12501193,12477932,11741952,10954711,10799524,10555980,10551883,9548756,9407060,9268338,9262406,9034330,9009196,8805223 392 NM_004308,AC115088,CH471064,AK126404,BC018118,U02570,U62794,Z23024 NP_004299,EAW67982,EAW67983,EAW67984,AAH18118,AAA16142,AAB66594,CAA80560,O15376,Q07960,ABM85071 Hs.138860 GDB:6874909 CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP protein-coding 1322908 ARHGAP10 Rho GTPase activating protein 10 737633 15471851,12477932,11432776,8288572 737633 79658 NM_024605,AC093678,AC093835,AC115621,AC125241,CH471056,AB050785,AK024549,AK123034,AK123785,AK130998,AL834360,BC011920,BC047914,BC106018,BC109029,BC109030,BC126899,BC128055,BX647727,CR457328 NP_078881,EAX05009,EAX05010,BAB61771,BAB14924,CAD39024,AAH11920,AAH47914,AAI06019,AAI09030,AAI09031,AAI26900,AAI28056,CAG33609,A1A4S6,Q3KQX3,Q6IA27,Q86T21,Q8ND72,Q9H7G7 Hs.368631 FLJ20896|FLJ41791|GRAF2|PS-GAP protein-coding 1602334 ARHGAP11A Rho GTPase activating protein 11A 16565220,15489334,12477932,11829490,7584028,7584026,15778465,15782160 9824 NM_014783,NM_199357,XM_001714495,AC123768,CH471125,BC039563,BC050545,BC063444,CR625523,D87717 NP_055598,NP_955389,XP_001714547,EAW92260,AAH39563,AAH63444,BAA13442,Q6P4F7 Hs.591130 GAP (1-12)|KIAA0013|MGC70740 protein-coding 1343211 ARHGAP11B Rho GTPase activating protein 11B 449618 1320676 ARHGAP12 Rho GTPase activating protein 12 RHO GTPases (see ARHA, MIM 165390) that participate in a wide variety of cellular processes are active in their GTP-bound form and inactive in their GDP-bound form. The hydrolysis of GTP and the inactivation of these GTPases are regulated by GTPase-activating proteins (GAPs), such as ARHGAP12 (Zhang et al., 2002 [PubMed 11854031]).[supplied by OMIM] 15489334,15345747,15144186,14702039,12477932,12297274,11854031 94134 NM_018287,AL390715,CH471072,AK000744,AK001833,AK025438,AK091182,AK127611,AL137485,AL834250,AY033594,AY033595,BC051811,BC094719,BC115362,BC115363,CR613881,CR936681 NP_060757,EAW85979,EAW85980,EAW85981,EAW85982,EAW85983,EAW85984,EAW85985,BAA91932,BAB15131,CAB70766,CAD38926,AAK52311,AAK52312,AAH51811,AAH94719,AAI15363,AAI15364,Q1RLN5,Q504X1,Q5T2Y0,Q5T2Y1,Q5T2Y2,Q5T2Y3,Q8IWW6,Q9H6W9,Q9NV28 Hs.499264 GDB:11505643 DKFZp779N2050|FLJ10971|FLJ20737|FLJ21785|FLJ45709 protein-coding 1348610 ARHGAP15 Rho GTPase activating protein 15 RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM] 15761153,15459234,15342556,12650940,12477932,11042152,9373149,8125298 55843 NM_018460,AC013437,AC079584,AC079793,AC092652,AC096558,AC098857,AC109639,CH471058,AF212222,AF217507,AF217522,AK226014,AY219338,BC016701,BC038976,BP299206 NP_060930,AAX93160,AAX82009,AAY24215,AAY14811,AAX93158,AAX93245,EAX11587,EAX11588,EAX11589,EAX11590,AAF87324,AAF67618,AAF67633,AAO34684,AAH16701,AAH38976,Q53QZ3 Hs.171011 BM046 protein-coding 1351374 ARHGAP16P Rho GTPase activating protein 16 pseudogene 319102 NG_002492,AL358913 ARHGAP15P pseudo 1343283 ARHGAP17 Rho GTPase activating protein 17 RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM] 633422,1580863 16678097,15489334,14702039,12477932,11431473,11285285,10967100 633422 55114 BI906519,CR602276,CR603587,CR620475,NM_018054,NM_001006634,AC008731,AC010545,CH471145,AF113218,AF163257,AF173885,AJ306731,AJ306732,AK001170,AK023281,AK027567,AK094886,AK125358,AK291691,AL833975,BC001241,BC080195 AAH80195,Q68EM7,Q9H3E7,NP_060524,NP_001006635,EAW55778,EAW55779,AAG39289,AAQ13586,AAQ13632,CAC37948,CAC37949,BAA91532,BAB14506,BAB55203,BAC86144,BAF84380,CAD38819,AAH01241 Hs.373793 DKFZp564A1363|FLJ37567|FLJ43368|MGC87805|MST066|MST110|MSTP038|MSTP066|MSTP110|NADRIN|RICH1|WBP15 protein-coding 1312852 ARHGAP18 Rho GTPase activating protein 18 1580863 15231747,15489334,14702039,14574404,12477932 93663 NM_033515,AL450310,CH471051,Z97352,AB053293,AI337078,AK002195,AK098594,AL834511,AY643712,BC017223,BC039611,BC052295,BC062417,BC073143,BC101708,BC107416,BC111940,BM557223,CB149638 AAH62417,NP_277050,CAH72298,EAW48076,EAW48077,EAW48078,BAB61887,CAD39167,AAT64914,AAH17223,AAH39611,AAI01709,AAI07417,AAI11941,Q8N392 Hs.486458 FLJ25728|MGC126757|MGC138145|MacGAP|bA307O14.2 protein-coding 1351019 ARHGAP19 Rho GTPase activating protein 19 Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM] 17454002,15489334,15164054,14702039,12693554,12477932,9110174,8619474 84986 NM_032900,AL359385,CH471066,AK074122,AK090447,AK093316,AK093441,BC007848,BC082250,BC103749,BC113888,BC114490,BI830638,BX648189,BX648194,CD743029,CR749412,DQ338460,U79256 NP_116289,CAI13728,CAI13731,EAW49952,EAW49953,EAW49954,EAW49955,BAB84948,BAC03428,BAC04130,BAC04165,AAI13889,AAI14491,CAH18254,ABC69298,Q14CB8,Q5T461,Q8NA01 Hs.80305 DKFZp313K217|MGC138804|MGC138805|MGC14258 protein-coding 1350363 ARHGAP20 Rho GTPase activating protein 20 16014623,15543602,15489334,15234003,14532992,12477932,10718198 57569 NM_020809,AP001883,AP001980,AP003460,CH471065,AB037812,AI936560,AK292290,AY496263,AY496264,AY496265,AY496266,AY496267,BC039340,BQ003257 NP_065860,EAW67133,EAW67134,BAA92629,BAF84979,AAS45466,AAS45467,AAS45468,AAS45469,AAS45470,AAH39340,Q9P2F6 Hs.6136 KIAA1391|RARHOGAP protein-coding 1322263 ARHGAP21 Rho GTPase activating protein 21 ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM] 17347647,15793564,14702039,12477932,12056806,10718198,15778465 57584 AL355979,AL392104,CH471072,AB037845,AF480466,AK090642,AL834495,AV709848,BC022931,NM_020824,BC118915,BX537570 NP_065875,CAI14323,CAI14324,CAI14325,CAI40176,CAI40177,CAI40178,CAI40180,CAI40181,CAI40184,EAW86122,BAA92662,AAM22955,CAD39153,AAH22931,AAI18916,CAD97787,Q5JSD4,Q5JSD8,Q5T5U1,Q5T5U2,Q5T5U3 Hs.524195 ARHGAP10|DKFZp761L0424|FLJ33323 protein-coding 1316310 ARHGAP22 Rho GTPase activating protein 22 ARHGAPs, such as ARHGAP22, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM] 737633,1580863 15489334,15254788,14702039,12477932,8619474 737633 58504 NM_021226,AC016397,AC016399,CH471187,AK055037,AK055937,AK127586,AY324801,BC047096,BC126444,CR600275,EF560749,U90908 NP_067049,EAW93125,EAW93126,EAW93127,BAC87044,AAP85632,AAI26445,ABQ59059,AAB51057,Q7Z5H3 Hs.655672 RhoGAP2 protein-coding 1320244 ARHGAP23 Rho GTPase activating protein 23 The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form. GTPase-activating proteins, such as ARHGAP23, inactivate RHO family proteins by stimulating their hydrolysis of GTP (Katoh and Katoh, 2004 [PubMed 15254754]).[supplied by OMIM] 16625196,15254754,12477932,10819331 57636 XM_290799,XM_001716606,XM_001714948,AC115090,AB040934,BC039190 XP_290799,XP_001716658,XP_001715000,BAA96025,Q9P227 Hs.374446 KIAA1501 protein-coding 1315415 ARHGAP24 Rho GTPase activating protein 24 ARHGAPs, such as ARHGAP24, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM] 1580863 16862148,16344560,15611138,15489334,15302923,15254788,14702039,12601173,12477932,11256614,11230166,9847074 83478 NM_001025616,NM_001042669,NM_031305,AC097108,AC098870,AC104059,AC104810,AC115620,AC139716,CH471057,AK091196,AK098193,AK130576,AL136646,AY211925,BC047918,BC098580,CR601064,CR617684,DA546029,DA815489,DB109452 NP_001020787,NP_001036134,NP_112595,EAX05959,EAX05960,EAX05961,BAC03606,BAC85384,CAB66581,AAO65178,AAH47918,AAH98580,Q8N264 Hs.444229 DKFZP564B1162|FILGAP|FLJ33877|RC-GAP72|RCGAP72|p73|p73RhoGAP protein-coding 1351716 ARHGAP25 Rho GTPase activating protein 25 ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM] 737633,1580863 15489334,15254788,12477932,7584044 737633 9938 NM_001007231,NM_014882,AC097495,AC105054,AC112700,CH471053,AK290396,BC032222,BC039591,BX443252,CR603706,CR607155,CR617270,D29642 NP_001007232,NP_055697,AAY15074,AAY24006,EAW99866,EAW99867,EAW99868,P42331,Q53QF7,BAF83085,AAH39591,Q53R16,BAA06125 Hs.531807 KAIA0053 protein-coding 1322105 ARHGAP26 Rho GTPase activating protein 26 1599311,1580863 10908648,11432776,11998687,9582072,14702039,12477932,10737800,9858476,9734811,9525907,8649427,7836419 1599311 23092 AK095220,AK123519,AK124521,BC021059,BC068555,BF085236,CR610690,NM_015071,AC004782,AC005348,AC005574,AC008533,AC012630,AF196313,AF508552,CH471062,Y10388,AB014521,AK092488 AAH68555,Q5D035,Q8NFJ1,Q9HBW4,Q9UNA1,NP_055886,AAG30729,AAM61871,EAW61876,EAW61877,CAA71414,BAA31596 Hs.654668 FLJ42530|GRAF|KIAA0621|OPHN1L|OPHN1L1 protein-coding 1346833 ARHGAP27 Rho GTPase activating protein 27 Rho (see ARHA; MIM 165390)-like small GTPases are involved in many cellular processes, and they are inactive in the GDP-bound state and active in the GTP-bound state. GTPase-activating proteins, such as ARHGAP27, inhibit Rho-like proteins by stimulating their intrinsic GTPase activity (Katoh and Katoh, 2004 [PubMed 15492870]).[supplied by OMIM] 1302833 15492870,15147912,12477932 1302833 201176 NM_199282,AC003070,AC091132,CH471178,AK125535,BC029634,BC101388,BC101389,BC101390,BC101391 NP_954976,EAW51528,BAC86196,AAH29634,AAI01389,AAI01390,AAI01391,AAI01392,Q6ZUM4,Q8N2Y9 Hs.569809 CAMGAP1|FLJ43547|MGC120624 protein-coding 1347841 ARHGAP28 Rho GTPase activating protein 28 737633 16177791,15489334,14702039,12477932,10718198 737633 79822 NM_001010000,NM_030672,AP005210,CH471113,AB037735,AK001174,AK024298,AK289791,BC033668,BC065274,BG720645,BX648684 NP_001010000,NP_109597,EAX01633,EAX01634,EAX01635,BAA92552,BAA91533,BAF82480,AAH33668,AAH65274,Q9P2N2 Hs.183114 DKFZp686A2038|FLJ10312 protein-coding 1606326 ARHGAP29 Rho GTPase activating protein 29 9305890,17488656,16189514,15752761,12477932,8889548,7566098,14749388 9411 NM_004815,AL162735,CH471097,AA326126,AB208873,AL833445,AW295796,BC022483,BC037337,BC067839,BC093741,BC093767,BF115799,BI548487,BU507990,BX508890,CA454270,CB852768,U90920 NP_004806,CAH71750,CAH71751,EAW73051,EAW73052,BAD92110,AAH22483,AAH67839,AAH93741,AAH93767,AAB81012,Q52LW3 Hs.483238 PARG1|RP11-255E17.1 protein-coding 1604190 ARHGAP30 Rho GTPase activating protein 30 16710414,15489334,15144186,12477932 257106 BC025732,BC043387,BC053688,BX537846,NM_001025598,AL833477,NM_181720,AL591806,CH471121,AK126116,AK126163,AK160366,AL832852 AAH43387,AAH53688,CAD97855,Q6ZTY0,Q7Z6I6,NP_001020769,NP_859071,CAI15373,CAI15374,CAI15375,EAW52667,EAW52668,EAW52669,EAW52670,EAW52671,EAW52672,EAW52673,EAW52674,BAC86447,BAD18709 Hs.389374 FLJ00267|FLJ44128|RP11-544M22.6 protein-coding 1343373 ARHGAP4 Rho GTPase activating protein 4 1580863 8570618,11256614,16381901,15489336,12736724,12477932,12447388,12414125,11754100,11076863,10655059,9286695,8590280,7981673,12115726 393 NM_001666,Z68128,AY183123,CH471172,BC023626,BC052303,CR599676,CR615863,D50921,X78817 EAW72778,EAW72779,EAW72780,EAW72781,EAW72782,CAA92213,AAO66337,NP_001657,EAW72777,Q9UGE8,CAL37504,CAL38100,AAH23626,AAH52303,BAA09480,CAA55394,P98171,Q0JTR2,Q6PJ34,Q86UY3 Hs.3109 GDB:6888562 C1|KIAA0131|RGC1|RhoGAP4|p115 protein-coding 1318315 ARHGAP5 Rho GTPase activating protein 5 Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. 1580863 8537347,1689011,16777052,16469769,15588985,15231748,14702039,14610059,12842009,12554790,12477932,10939588,10713673,8889548,7935432,10769036,8344248 394 NM_001030055,NM_001173,AL161665,CH471078,AB209751,AK023468,AL045112,AY316523,BC032723,BC050059,BC075799,BC129928,BC129929,CA945100,CR596496,U17032 NP_001025226,NP_001164,EAW65935,EAW65936,EAW65937,EAW65938,BAD92988,AAP83192,AAH32723,AAH50059,AAH75799,AAI29929,AAI29930,AAA95963,Q05BE8,Q05BU8,Q13017,Q59ER0,Q6DHZ3,Q7Z2X2 Hs.592313 GDB:6889383 GFI2|RhoGAP5|p190-B protein-coding 1349829 ARHGAP6 Rho GTPase activating protein 6 ARHGAP6 is similar to the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane of several cellular processes. Rho GTPase activating protein 6 is thought to have two independent functions, one as a GTPase-activating protein (GAP) with specificity for RhoA and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 10699171,8570618,12673365,12477932,9417914 395 O43182,Q59HG6 NM_013427,NM_001174,NM_013423,AF117067,AF177663,AF177665,BC035785,NM_006125,NM_013422,AC002366,AC003657,AC004467,AC004554,AC130886,AC130890,CH471074,AB208792,AF012272,AF022212 NP_038286,NP_001165,AAF43261,AAD53166,AAD55087,O43182,Q59HG6,NP_038267,NP_006116,NP_038266,EAW98786,EAW98787,EAW98788,EAW98789,EAW98790,EAW98791,BAD92029,AAC98539,AAC98540 Hs.435291 GDB:6919857 RHOGAP6|rhoGAPX-1 protein-coding 1606315 ARHGAP8 Rho GTPase activating protein 8 This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. Rare read-through transcripts, containing exons from the PRR5 gene which is located immediately upstream, led to the original description of this gene as encoding a RHOGAP protein containing the proline-rich domains characteristic of PRR5 proteins. Alternatively spliced variants encoding different isoforms have been described. 15944398,15506981,15225876,15064355,14702039,12944407,12559566,12477932,12297274,10591208 23779 BC067824,BC093675,BC111953,NM_001017526,NM_181335,Z93244,AF544240,AK001306,AK022305,BC010490,BC048280,BC059382 AAH93675,AAI11954,P85298,Q52M44,Q6NVX9,Q6PCC7,Q6PJW1,Q86XV6,Q8IZM6,NP_001017526,NP_851852,CAO03394,CAO03395,CAO03396,CAO03397,AAN40769,BAA91614,BAB14008,AAH10490,AAH48280,AAH59382 Hs.102336 GDB:10795287 BPGAP1|FLJ20185|PP610 protein-coding 1313314 ARHGAP9 Rho GTPase activating protein 9 This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 16344560,16189514,15489334,15231748,14702039,12477932,12297274,11396949 64333 NM_001080157,NM_001080156,AC022506,CH471054,AB030239,AB051853,AF161339,AK057573,AK092763,NM_032496,AK131415,AL713803,BC006107,BC011820,CB528354,CR610490,CR618863,DA675251 NP_115885,NP_001073626,NP_001073625,EAW97014,EAW97015,EAW97016,EAW97017,EAW97018,BAB83128,BAB56159,AAF28899,BAC03969,BAD18562,CAD28552,AAH06107,AAH11820,Q8NAF3,Q9BRR9,Q9P0G0,ABM87429,ABW03888 Hs.437126 GDB:11499812 10C|FLJ16525|MGC1295|RGL1 protein-coding 1354371 ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha 1580863 8262133,17353931,16130169,18070886,17909265,17653765,17330946,16943322,16916647,16236267,16169070,15513926,15489334,12477932,11513579,11513578,11320308,11149925,10713718,10676816,10673424,10664460,10346909,9681826,9490022,9287351,9195882,9186513,16526095,15659383,16189514,15225553 396 NM_004309,AC137723,CH471099,X63863,AF498926,BC005851,BC005875,BC007630,BC008701,BC009759,BC013846,BC016031,BC016185,BC027730,BC028333,BC075827,BC106044,BT006884,CR456777,CR590519,CR594088,CR595053,CR597273,CR597482,CR598667,CR599297,CR600294,CR603762,CR604600,CR606983,CR609352,CR609835,CR612591,CR612624,CR615458,CR617872,CR617926,CR619312,CR620401,CR620998,CR621432,CR624264,CR624605,D13989,M97579,X69550,BC024258 NP_004300,EAW89697,EAW89698,CAA45344,AAM21074,AAH05851,AAH05875,AAH08701,AAH09759,AAH16031,AAH16185,AAH24258,AAH27730,AAH75827,AAI06045,AAP35530,CAG33058,BAA03096,AAA36566,CAA49281,P52565,Q6IBM5,ABM82043,ABM85222 Hs.159161 GDB:1220146 GDIA1|MGC117248|RHOGDI|RHOGDI-1 protein-coding 1313380 ARHGDIB Rho GDP dissociation inhibitor (GDI) beta 1580863 11989976,11368848,10779444,10664460,10655614,9799233,9490022,9287351,7896279,8262133,8356058,16130169,8434008,9113980,12477932,12386169,12203895,7513052,11809807 397 P52566 NM_001175,AC007655,CH471094,AA143425,CR590127,CR590876,CR596151,CR596642,CR605375,AF498927,BC009200,CR610137,CR615019,CR616298,CR624952,L07916,L20688,X69549 NP_001166,EAW96336,EAW96337,EAW96338,EAW96339,EAW96340,EAW96341,EAW96342,AAH09200,AAM21075,AAA59539,CAA49280,P52566,ABM84229,ABM87475 Hs.504877 GDB:377299 D4|GDIA2|GDID4|LYGDI|Ly-GDI|RAP1GN1 protein-coding 1321818 ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma 1580863 9113980,15616553,15513926,15489334,12477932,11967128,11157797,9787082,8939998,8889548,10436176,11809807,14764880 398 NM_001176,AE006463,AF080237,CH471112,Z69667,AF498928,BC047699,BU732723,U82532 NP_001167,AAK61222,AAC72354,EAW85837,CAI95584,CAI95585,CAM26353,AAM21076,AAH47699,AAC33138,Q99819 Hs.647388 GDB:6288651 RHOGDI-3 protein-coding 1351280 ARHGEF1 Rho guanine nucleotide exchange factor (GEF) 1 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 8810315,12681510,10747909,11313914,10648409,17493936,15753034,15735747,15489334,15143072,14712228,12754211,12748184,12534370,12525488,12477932,12372594,12270917,11524686,11384980,11358341,9641916,9641915,9135076,10556093,16189514,14634662,10608806 9138 AC010616,AK026781,AL832294,BC005155,BC011726,BC015652,CH471126,BC034013,BC035127,BC064996,BC067262,NM_004706,NM_198977,NM_199002,BM147791,BQ944132,BT007421,CR615730,CR620754,U64105 EAW57077,EAW57078,EAW57079,EAW57080,EAW57081,EAW57082,EAW57083,EAW57084,AAH05155,AAH11726,AAH34013,AAH35127,NP_004697,NP_945328,NP_945353,AAH67262,AAP36089,AAB17896,Q49AN3,Q6NX52,Q8NF33,Q92888,ABM84518,ABM85930 Hs.631550 GDB:9955089 GEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5 protein-coding 1346816 ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. 1580863 17893707,16896804,15489334,15146197,14508709,12477932,12168954,9314494,9205841 9639 BC112926,NM_014629,AC019257,CH471181,CQ766815,AA758332,AB002292,AF009205,AI348138,AL137508,BC026965,BC036809,BC040474,CN307765,CR622006,CR749570 NP_055444,EAW51480,EAW51481,EAW51482,EAW51483,EAW51484,CAF33078,BAA20754,AAB71662,CAH10696,AAH26965,AAH36809,AAH40474,AAI12927,CAH18365,O15013,Q2KHR8,Q69YW1,Q8N650 Hs.98594 GDB:9785494 DKFZp686H0726|GEF10|MGC131664 protein-coding 1605662 ARHGEF10L Rho guanine nucleotide exchange factor (GEF) 10-like 16112081,14702039,12477932,10997877 55160 NM_018125,NM_001011722,AL139250,AL358593,AL390994,BX538146,CH471134,AB046846,AK001383,AK092020,AK123471,AK126877,AK129606,AK129959,AW455769,BC003073,BC029928,BC065561,BC080596,BC111058,BC117171,DQ139833 AAZ73162,Q17RW1,Q3YFJ4,Q5VXI4,Q5VXI5,Q5VXI6,Q66K51,Q6P0L7,Q8NAV5,Q9HCE6,Q9NVT3,NP_060595,NP_001011722,CAI22139,CAI22140,CAH74135,CAH74136,CAH74137,EAW94840,EAW94841,EAW94842,EAW94843,EAW94844,BAB13452,BAA91663,BAC03792,AAH65561,AAH80596,AAI17172 Hs.443460 FLJ10521|GrinchGEF|KIAA1626|RP11-473A10.1 protein-coding 734056 ARHGEF11 Rho guanine nucleotide exchange factor (GEF) 11 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. 1580863 10026210,18231709,18086913,17369523,17287471,17261673,17081983,16710414,16691626,16478718,16192272,15143072,14742719,14684465,14625312,12477932,12421765,12372594,12183458,11470431,11242047,10900204,10526156,9205841,12123608,12730235 9826 NM_198236,AL157713,AL356104,CH471121,AB002378,AL832790,BC057394,NM_014784 NP_055599,NP_937879,CAH72939,CAH72940,EAW52892,EAW52893,EAW52894,BAA20834,AAH57394,O15085,Q6PFW2 Hs.516954 GDB:9785751 DKFZp667F1223|GTRAP48|KIAA0380|PDZ-RHOGEF rhogef glutamate transport modulator gtrap48 protein-coding 1312950 ARHGEF12 Rho guanine nucleotide exchange factor (GEF) 12 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein is observed to form myeloid/lymphoid fusion partner in acute myeloid leukemia. 1580863 16192274,15345747,15331592,15143072,12515866,12477932,12376551,12372594,12220504,12196628,12183458,11799111,11724822,11373293,11094164,10681437,9205841,14712228,16192269,17766704,16644711,16565089 23365 NM_015313,AP000659,AP000758,AP001150,CH471065,AB002380,AF180681,AL137456,BC031784,BC063117,BX647785,BX648515,CR592713,CR620894 NP_056128,EAW67508,EAW67509,EAW67510,BAA20836,AAF36817,AAH63117,Q6P526,Q9NZN5,Q9P149,AAI52901 Hs.24598 GDB:11499861 DKFZp686O2372|KIAA0382|LARG|PRO2792 protein-coding 1315873 ARHGEF15 Rho guanine nucleotide exchange factor (GEF) 15 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. 1580863 16189514,15489334,14702039,12775584,12477932,12168954,10048485 22899 NM_173728,AC135178,CH471108,AB020722,AK023853,AK291626,AL601528,BC036749 NP_776089,EAW90060,EAW90061,BAA74938,BAB14703,BAF84315,AAH36749,O94989 Hs.443109 GDB:11510353 ARGEF15|FLJ13791|KIAA0915|MGC44868|Vsm-RhoGEF protein-coding 1347062 ARHGEF16 Rho guanine exchange factor (GEF) 16 Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. 16710414,16344560,15489334,14702039,12477932,15778465 27237 NM_014448,AL512413,CH471130,AK091910,AK095984,BC002681,BC051838,BT007270,CR609468,D89016,DA539376,DB499586 NP_055263,CAH70832,CAH70833,CAQ07782,CAQ07783,EAW71452,EAW71453,AAH02681,AAH51838,AAP35934,BAA13745,Q5VV41,ABM92254,ABM84739 Hs.87435 GDB:11508761 GEF16|NBR protein-coding 1320476 ARHGEF17 Rho guanine nucleotide exchange factor (GEF) 17 1580863 12071859,12477932,11559528,9205841,15778465 9828 NM_014786,AP000562,AP002761,CH471076,AB002335,AF378754,AK074500,BC050031,BC137228 NP_055601,EAW74891,BAA20795,BAC11025,AAH50031,AAI37229,Q96PE2,AAL11991 Hs.533719 FLJ90019|KIAA0337|P164RHOGEF|TEM4|p164-RhoGEF protein-coding 1322915 ARHGEF18 rho/rac guanine nucleotide exchange factor (GEF) 18 Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. 1580863 14512443,12477932,11318610,11085924,9628581 23370 NM_015318,AC008878,AC119396,AA829883,AB011093,AK074372,AK127045,BC008016,BC014994,BC077721,BQ055909,BX404969 NP_056133,BAA25447,BAC86801,AAH08016,AAH14994,AAH77721,O60274,Q6DD92,Q6ZSZ5,Q969M0 Hs.465761 KIAA0521|MGC15913 protein-coding 1312400 ARHGEF19 Rho guanine nucleotide exchange factor (GEF) 19 737633,1580863 15485661,14702039,12477932 737633 128272 NM_153213,AL109627,CH471167,AK091281,AL137736,BC012982,BC040640,CR606355,CR621382,CR625309 NP_694945,CAI22566,CAI22567,EAW51771,BAC03627,AAH12982,AAH40640,Q8IW93 Hs.591532 FLJ33962|RP4-733M16.1|WGEF protein-coding 1312226 ARHGEF2 rho/rac guanine nucleotide exchange factor (GEF) 2 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. 9857026,11912491,18095154,17488622,16964243,16778209,16565220,16381901,15866167,15827085,15489336,15324660,15302935,14970201,14676191,12477932,12384139,11595749,11230166,11076863,9734811,2466560,16189514,17353931,14743216 9181 NM_004723,AL355388,CH471121,AB014551,AF486838,AL512715,AL832538,BC020567,BC027722,BT007407,U72206,X15610 NP_004714,CAH72627,CAH72628,CAH72629,CAH72630,EAW53012,EAW53013,EAW53014,EAW53015,EAW53016,EAW53017,EAW53018,BAA31626,AAL96658,CAC21656,AAH20567,AAP36075,AAC97383,CAA33634,Q5VY92,Q5VY93,Q8TDA3,Q8WUG4,Q92974,Q9H023,CAL38183,ABM82415,ABM85604 Hs.655209 GDB:9955182 DKFZp547L106|DKFZp547P1516|GEF|GEF-H1|GEFH1|KIAA0651|LFP40|P40 protein-coding 1321712 ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. This protein is similar to the NET1A protein. 10873612,16381901,15489336,15489334,14702039,12477932,12221096,11230166,11076863,9373149,8125298 50650 NM_019555,AC099559,AC099781,AX002254,CH471055,AB209661,AF249744,AF433662,AK024340,AK225688,AK291412,AL136832,BC022249,BC054345,BC068513,BC098122,BC098272,BC099715,BC104723,CR594043 NP_062455,EAW65325,EAW65326,BAD92898,AAF79954,AAP97313,BAB14891,BAF84101,CAB66766,AAH54345,AAH68513,AAH98122,AAH98272,AAH99715,AAI04724,Q0JUD7,Q9NR81,CAL37874 Hs.476402 GDB:10796239 DKFZP434F2429|GEF3|MGC118905|STA3|XPLN protein-coding 1312054 ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. This protein is similar to rat collybistin protein. Alternative splicing of this gene generates two transcript variants which encode different isoforms. Also there is possibility for the usage of multiple polyadenylation sites for this gene. 1580863 10947987,17002498,12598901,12477932,12168954,10873612,10470851,15572129 50649 NM_032995,NM_015320,AC009477,AC112786,CH471250,AB029035,AB042199,AF249745,AL137289,BC036579,BC139742,DQ424905 NP_127462,NP_056135,AAX93134,AAY24311,EAW51269,EAW51270,EAW51271,BAA83064,BAB11941,AAF79955,CAB70681,AAI39743,ABD83670,Q1ZYL3,Q53QF2,Q53TH6,Q9NR80,Q9NTG0,AAI60189 Hs.469935 GDB:9955947 ASEF|ASEF1|GEF4|STM6 protein-coding 735723 ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. 1580863 8134109,12006984,15951569,15681748,15489334,14702039,12853948,12477932,12107413,7656213,15778465 7984 NM_005435,AACC02000041,AC004534,CH471146,AK090570,AK123596,AK160365,BC010046,BC011839,BC014555,BF209445,BG831953,BI256663,BX649178,CD674013,CR749203,U02082 NP_005426,EAL24413,AAC12958,EAW80095,EAW80096,BAD18708,AAH10046,AAH11839,AAH14555,CAH18061,AAA18010,Q12774,Q32Q31,Q68E09,Q6ZML7,ABM84438,ABM87484 Hs.334,Hs.534621 GDB:354814 DKFZp686N1969|GEF5|P60|TIM|TIM1 protein-coding 1343816 ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. 1580863,1599214 9582122,11017088,7584028,7584026,10559302,11564864,17405911,17081983,16964243,16897755,16320026,16094384,15772651,15761153,15649357,15611136,15489334,15324660,15302935,15242552,15144186,12935897,12499396,12477932,11937491,11337747,10896954,10523848,9783701,9659915,7584048 1599214 9459 AL683813,CH471150,AF207831,AK129909,AK291742,BC033768,BC039856,BC043505,BE243825,BX537390,D13631,D25304,NM_004840,AL135783 CAI39443,EAW88460,EAW88461,AAG27169,BAF84431,AAH33768,AAH39856,AAH43505,CAD97632,BAA02796,BAA04985,Q15052,Q5JVP6,Q7Z3W1,Q8N4Q3,NP_004831,CAI42899,CAI42903 Hs.522795 GDB:9784248 COOL2|Cool-2|KIAA0006|MRX46|PIXA|alpha-PIX|alphaPIX protein-coding 736143 ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7 Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 9659915,14505571,16407834,18160719,17562871,17219408,17081983,16983070,16492808,16344560,16329988,15864311,15761153,15649357,15491607,15489334,15324660,15212761,15144186,14702039,14559906,14557270,12935897,12888526,12888525,12626503,12499396,12477932,12226077,12006652,11864573,11157752,10896954,10428811,10330411,9726964,9207241,8889548,8590280,8076819,16356860 8874 AB177848,AB177849,AJ844629,AJ844631,AK055476,AK093326,AK095058,AL834228,BC033905,BC050521,BC060776,BM677392,BX648314,CF121796,CF144155,CR615661,CR618781,D17055,D63476,DA216264,DB104833,NM_003899,NM_001113511,NM_001113512,NM_001113513,AL139086,AL353704,AL390754,CH471085,AA457036,AB075521,NM_145735,DB180957 BAD66826,BAD66827,CAH59748,CAH59949,CAD38906,AAH33905,AAH50521,AAH60776,BAA09763,NP_663788,NP_003890,NP_001106983,NP_001106984,NP_001106985,CAI14670,CAI14671,CAI14672,CAM20788,EAX09142,EAX09143,EAX09144,EAX09145,EAX09146,EAX09147,EAX09148,EAX09149,BAE45764,Q14155,Q3LIA4,Q5T2V0,Q5T2V1,Q5T2V2,Q5T2V3,Q5W9H0,Q5W9H1,Q5ZEZ2,Q5ZEZ3 Hs.508738 GDB:9784887 BETA-PIX|COOL1|DKFZp686C12170|DKFZp761K1021|KIAA0142|KIAA0412|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB pak-interacting exchange factor beta protein-coding 1348513 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 ARHGEF9 belongs to a family of Rho-like GTPases that act as molecular switches by cycling from the active GTP-bound state to the inactive GDP-bound state. These proteins are key regulators of the actin cytoskeleton and are involved in cell signaling.[supplied by OMIM] 15772651,15489334,15342556,15215304,12477932,11727829,10607391,10559246,9455477 23229 NM_015185,AL355142,AL391277,AL451106,CH471132,AB007884,AK289993,AL832116,BC018106,BC043497,BC056892,BC117406,BP270451,CR592615 NP_056000,EAX05416,EAX05417,EAX05418,BAA24854,BAF82682,AAI17407,O43307,Q5JSL5,Q5JSL7 Hs.54697 GDB:11499859 COLLYBISTIN|HPEM-2|KIAA0424|PEM-2|PEM2 protein-coding 1321437 ARID1A AT rich interactive domain 1A (SWI-like) This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. 1580863 15640446,10757798,12200431,15170388,17492758,17255939,17081983,16710414,16230384,15382044,14722072,14702039,12837248,12672490,12665591,12477932,11988099,11780067,11734557,11318604,11159203,11073988,9630625,9584200,9434167,9373149,8895581,8804307,8125298,11018012,9845365,14743216 8289 NM_006015,NM_139135,AB024075,AL034380,AL512408,CH471059,AB001895,AB210022,AF217506,AF219114,AF231056,AF265208,AF268913,AF521670,AK027442,AK027467,AK027655,AK074940,AK223275,BC112895 NP_006006,NP_624361,BAA83073,CAI21621,CAI21622,CAI21623,CAI21629,EAX07793,EAX07794,EAX07795,EAX07796,EAX07797,BAA23269,BAE06104,AAF67617,AAG17549,AAG33967,AAF75765,AAK54505,AAN03446,BAB55114,BAB55132,BAB55270,BAC11306,BAD96995,AAI12896,O14497,Q4LE49,Q5JYH3,Q8NC65,Q96SM7,Q96SY8,Q96T01,Q96TA9,Q9NZ92 Hs.468972 B120|BAF250|BAF250a|BM029|C1orf4|P270|SMARCF1 at rich interactive domain 1a (swi- like) protein-coding 1316702 ARID1B AT rich interactive domain 1B (SWI1-like) 1302474 15170388,12200431,11734557,17255939,16952470,15231748,14982958,14702039,14633620,14574404,12672490,12665591,12477932,11988099,11078522,10574462,10078207,9804814,8896557,8889548,14743216 1302474 57492 NM_020732,NM_017519,NM_175863,AJ001216,AL049820,AL136091,AL162578,AL355297,AL591545,CH471051,AB033061,AF253515,AF259792,AF468300,AF521671,AK000921,AK025945,AK074180,BC009543,CB240584,Y08266 NP_065783,NP_059989,NP_787059,CAI40011,CAI40012,CAI40014,CAH71534,CAI40663,CAI40664,CAI40666,CAI40667,EAW47678,EAW47679,EAW47680,EAW47681,EAW47682,EAW47683,EAW47684,EAW47685,AAN70985,AAG36928,AAL76077,AAN03447,BAA91426,BAB85006,CAA69592,Q5JRD2,Q5JU45,Q5JU46,Q8NFD5,Q8TEE4,Q9NWF5,BAA86549 Hs.291587,Hs.603283 6A3-5|BAF250b|BRIGHT|DAN15|ELD/OSA1|KIAA1235|RP11-419L10.1|p250R protein-coding 1322383 ARID2 AT rich interactive domain 2 (ARID, RFX-like) ARID2 is a subunit of the PBAF chromatin-remodeling complex (see BAF180; MIM 606083), which facilitates ligand-dependent transcriptional activation by nuclear receptors (Yan et al., 2005 [PubMed 15985610]).[supplied by OMIM] 15146197,15060132,14702039,12672490,12477932,10997877,15985610,16782067,16303743,15922553,15640446,15489334,15159402 196528 NM_152641,AC008124,AC009464,AC009777,CH471111,AB046777,AK027617,AK027718,AK055181,AK075385,AK127872,AL832200,AY727870,BC018661,BC038726,BC064625,BC090062,BX537879,BX648152,BX649133,CN419675,CR749833,DQ096628 NP_689854,EAW57888,EAW57889,EAW57890,EAW57891,BAB13383,BAB55236,BAB55320,BAB70867,BAC11585,BAC87171,CAD91164,AAU20329,AAH18661,AAH38726,AAH90062,CAD97878,CAH18689,AAZ74794,Q4G0S8,Q68CP9,Q8NBP1,Q8WV72,Q96DQ8,Q96SQ4,AAI56212 Hs.696080 BAF200|DKFZp686G052|DKFZp779P0222|FLJ30619|KIAA1557|p200 protein-coding 1313245 ARID3A AT rich interactive domain 3A (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. 1580863 17386101,17081983,16738337,15203319,15057824,15017387,12692263,12477932,12193717,12136662,11812999,10838570,9780002,9722953 1820 AF039844,AF039850,CH471139,AY152547,AY845638,BC007077,BC033163,BC060828,CR598405,U88047,NM_005224,AC005379,AC005391 AAC28918,AAC69994,EAW69580,AAN74028,AAW30734,AAH33163,AAH60828,AAC32888,Q99856,ABZ92420,NP_005215,AAC28499 Hs.501296 BRIGHT|DRIL1|DRIL3|E2FBP1 at rich interactive domain 3a (bright- like) protein-coding 1314897 ARID3B AT rich interactive domain 3B (BRIGHT-like) This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. 10446990,12477932,10838570 10620 NM_006465,AC100835,CH471136,AB208830,AF116846,AL137417,BC041792,BC045545,BC060824,CR621500,DB455943 NP_006456,EAW99327,EAW99328,BAD92067,AAD09133,AAH41792,AAH60824,Q8IVW6 Hs.708089 BDP|DRIL2 at rich interactive domain 3b (bright- like) protein-coding 1342507 ARID3C AT rich interactive domain 3C (BRIGHT-like) This gene is a member of the ARID (AT-rich interaction domain) family of proteins. The ARID domain is a helix-turn-helix motif-based DNA-binding domain. ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. 11959810,10838570 138715 NM_001017363,AL450283,CH471071 NP_001017363,EAW58438,AAI48444 Hs.534549 at rich interactive domain 3c (bright- like) protein-coding 1316636 ARID4A AT rich interactive domain 4A (RBP1-like) The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. 1580863 12724404,1857421,8414517,11283269,18211900,16873370,16344560,15302935,14581478,12477932,10490602,10369074,10321733,9660940,8455946 5926 NM_002892,NM_023000,NM_023001,AL132989,AL139021,CH471061,AF086075,BC026230,BX279740,DB218466,S57153,S57160,S57162,S66427 NP_002883,NP_075376,NP_075377,EAW80727,EAW80728,EAW80729,EAW80730,EAW80731,EAW80732,AAH26230,AAB25833,AAB25834,AAB25835,AAB28543,P29374,Q05CG0 Hs.161000 RBBP1|RBP-1|RBP1 protein-coding 1604359 ARID4B AT rich interactive domain 4B (RBP1-like) This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. 17081983,16710414,15489334,15302935,15247124,14702039,12724404,12477932,12446740,11790298,11481388,10737800 51742 NM_016374,AL133418,AL356781,AL391994,CH471098,NM_031371,AB210032,AF083249,AF208045,AF214114,AF227899,AI356277,AK023144,AK057552,AL133594,AY220790,BC017800,BC048959,BC062536,BC104632,BC130418,BF899710,BX648820,CR597032,CR622969 NP_112739,NP_057458,CAI22961,CAI22962,CAQ07269,CAI13747,CAI13749,CAI13751,EAW70008,EAW70009,EAW70010,EAW70011,EAW70012,EAW70013,EAW70014,EAW70015,BAE06114,AAD41239,AAF23433,AAF28341,AAF36964,BAB14428,CAB63731,AAO63590,AAH17800,AAH48959,AAH62536,AAI04633,AAI30419,CAI46047,Q4LE39,Q5T2C7 Hs.575782 BCAA|BRCAA1|DKFZp313M2420|MGC163290|RBBP1L1|RBP1L1|SAP180 protein-coding 1322287 ARID5A AT rich interactive domain 5A (MRF1-like) Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM] 15640446,16713569,12477932,8889548,8649988 10865 NM_212481,AC013270,CH471207,BC032488,BC047390,BC067301,BQ073595,BU734273,BX648918,M62324 NP_997646,EAW71359,EAW71360,EAW71361,EAW71362,EAW71363,EAW71364,EAW71365,EAW71366,AAH67301,AAA36325,Q03989 Hs.920 MRF-1|MRF1|RP11-363D14 protein-coding 1323345 ARID5B AT rich interactive domain 5B (MRF1-like) 10329386,15640446,17081983,15489334,15164054,14702039,12477932,11483573,11478881,9808040 84159 AK024803,BC015120,BC036831,BC056680,BC066345,BC107800,BG615173,BX537690,BX641020,BX648835,CR596682,M73837,NM_032199,AC067742,AL671972,AL731669,CH471083 EAW54226,EAW54227,EAW54228,BAB15012,AAH15120,AAH36831,AAH66345,AAI07801,CAD97814,CAE46013,AAA59870,Q05DG6,Q14865,Q32Q59,Q5VST4,Q6NZ42,AAI52737,AAI56571,NP_115575,CAH72685,CAH72686 Hs.535297 DESRT|FLJ21150|MRF2|RP11-341A19.1 protein-coding 1317726 ARIH1 ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) 1580863 10521492,15489334,15236971,14623119,12477932,11278816,11124703,11124525,10926929,10880484,12234920 25820 BC051877,AL117650,BX641117,NM_005744,AC079322,AC100827,CH471082,CQ834334,AB014774,AB209432,AF072832,AJ009771,AJ130976,AJ243190,AK000336,AK312715 AAH51877,Q59FM8,Q9Y4X5,NP_005735,EAW77907,EAW77908,CAH05382,BAB19786,BAD92669,AAD28088,CAA08817,CAA10274,CAB45870,BAG35590 Hs.268787 GDB:11499848 ARI|DKFZp686O13120|FLJ20329|FLJ93118|HARI|HHARI|UBCH7BP protein-coding 1314113 ARIH2 ariadne homolog 2 (Drosophila) 1580863 10422847,17646546,16189514,16169070,16118314,15489334,15146197,14702039,12477932,10931946,10880484,9373149,8125298,12234920 10425 NM_006321,AC134028,AC137630,CH471055,AB208857,AF099149,AF099150,AF099151,AF099152,AF099153,AF113677,AF183427,AJ130978,AK001800,AK091240,AK223550,AL110187,BC000422,CN399800,CR456785 NP_006312,EAW64930,EAW64931,EAW64932,EAW64933,BAD92094,AAC82469,AAG09696,CAA10276,BAD97270,AAH00422,CAG33066,O95376,Q53ET9,Q59HA2,Q6IBL8,ABM85944 Hs.649132 GDB:9956970 ARI2|FLJ10938|FLJ33921|TRIAD1 protein-coding 2289744 ARIH2P ariadne homolog 2 pseudogene 390844 XR_016965 Hs.646447 pseudo 732961 ARL1 ADP-ribosylation factor-like 1 The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. 1580863 9624189,11256614,17127620,15269279,14702039,12972563,12477932,11303027,10318838,7814376 400 P40616,Q53XB1 BX537387,CD686919,CR595963,CR596544,CR596591,CR599734,CR608773,CR625350,L28997,BT007260,NM_001177,AC063948,CH471054,AF493887,AK001489,AL701988,BC007000 AAP35924,CAD97629,AAC37567,P40616,NP_001168,EAW97657,EAW97658,EAW97659,EAW97660,AAM12601,AAH07000,Q53XB1,CAL38716,ABM83974,ABM87294 Hs.372616 GDB:321053 ARFL1 protein-coding 1344087 ARL10 ADP-ribosylation factor-like 10 1580863 15033445,14702039,12477932 285598 NM_173664,AC138956,CH471195,BC059361,DR001833 NP_775935,EAW85086,AAH59361,Q6PCE2,Q8N8L6 Hs.424552 ARL10A|FLJ39249 adp-ribosylation factor-like 10a protein-coding 1317649 ARL11 ADP-ribosylation factor-like 11 737633,1580863 18337727,17699778,17449901,17391501,16646072,16581122,16570116,16488076,16353159,16189514,15843669,15489334,15057823,14702039,12477932 737633 115761 NM_138450,AL135901,CH471075,AF441378,AK091249,BC013150,CR600646 NP_612459,CAI40715,EAX08831,AAP19650,BAC03621,AAH13150,Q969Q4 Hs.558599 ARLTS1|FLJ33930|MGC17429 protein-coding 1343034 ARL13A ADP-ribosylation factor-like 13A 392509 NM_001012990,CH471115,AW118931,BC140808,CD300373,DB727708,DY655154 NP_001013008,EAX02829,AAI40809,Q5H913 Hs.147237 ARL13|dJ341D10.2 protein-coding 1349356 ARL13B ADP-ribosylation factor-like 13B 15489334,15314642,12477932 200894 NM_182896,NM_144996,BC094725,BC104033,BC104034,BC104035,BC104036,BI821381,CR936753,CR936756,CR936763,AC117474,AC130896,CH471052,AL713789,BC015439,BC031093,BC062993 NP_878899,AAH94725,AAI04036,AAI04037,Q3SXY8,Q8TCL5,NP_659433,EAW79897,EAW79898,EAW79899,EAW79900,EAW79901,CAD28544 Hs.533086 ARL2L1|DKFZp686E2075|DKFZp686L2472|DKFZp686M2074|DKFZp761H079|MGC120611|MGC120612 adp-ribosylation factor-like 2-like 1 protein-coding 1349632 ARL14 ADP-ribosylation factor-like 14 15761153,15489334,15367757,14702039,12477932 80117 NM_025047,AC069224,CH471052,AK026248,BC034354 NP_079323,EAW78629,BAB15411,AAH34354,Q8N4G2 Hs.287702 ARF7|FLJ22595 adp-ribosylation factor 7 protein-coding 1323226 ARL15 ADP-ribosylation factor-like 15 737633 16169070,15489334,14702039,12477932 737633 54622 NM_019087,AC008873,AC008935,AC016601,AC024571,AC025175,AC034246,CH471123,AK000058,AK290886,BC026093,CR457225 NP_061960,EAW54889,EAW54890,EAW54891,BAA90915,BAF83575,AAH26093,CAG33506,Q9NXU5 Hs.659125 ARFRP2|FLJ20051 protein-coding 1601700 ARL16 ADP-ribosylation factor-like 16 15489334,14702039,12477932 339231 NM_001040025,AC139530,AK095847,BC029633,BC042380,BC063687,BC105076,BC105078,CR598237,CR615218,CR616295 NP_001035114,AAI05077,AAI05079,Q0P5N6 Hs.658789 protein-coding 1605146 ARL17 ADP-ribosylation factor-like 17 15489334,12477932 641522 NM_001103154,NM_001039083,AC005829,AC139026,CH878255,AF493886,AK289590,AK315857,BC000924,BC020869,BC030570,BC071681 NP_001096624,NP_001034172,EAW50328,AAM12600,BAF82279,BAF98748,AAH00924,AAH30570,Q8IVW1 Hs.559259 ARL17B protein-coding 1602487 ARL17P1 ADP-ribosylation factor-like 17 pseudogene 1 15489334,12477932 51326 NM_016632,NM_001113738,AC138645,AB209344,AF208864,BC041803,BX647266,CR620290 NP_057716,NP_001107210,BAD92581,AAF64278,AAH41803 Hs.579108 ARF1P2|ARL17A protein-coding 735885 ARL2 ADP-ribosylation factor-like 2 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. 1580863 10831612,17188265,16525022,15489334,12912990,12527357,12477932,12015966,11980706,11809823,9373149,9253601,8415637,8125298,16189514 402 NM_001667,AP000436,CH471076,AF493888,AI076058,BC002530,BG706294,L13687 NP_001658,EAW74332,AAM12602,AAH02530,AAC37606,P36404 Hs.502836 GDB:235919 ARFL2 protein-coding 1344137 ARL2BP ADP-ribosylation factor-like 2 binding protein ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. 1580863 10488091,12477932,11809823,11303027 23568 NM_012106,AC009090,CH471092,CQ783045,AF126062,AK075050,BC003087,BC094878,BF590083,CR597343,CR605296 NP_036238,EAW82913,EAW82914,CAF86252,AAD20633,AAH03087,AAH94878,Q9Y2Y0 Hs.632873,Hs.644888 BART1 protein-coding 1346532 ARL2BPL ADP-ribosylation factor-like 2 binding protein-like 399667 1349460 ARL2BPP1 ADP-ribosylation factor-like 2 binding protein pseudogene 1 399666 734227 ARL3 ADP-ribosylation factor-like 3 ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. 68742,1580863 8034651,16525022,16169070,12477932,12417528,12107411,11980706,11847227,11303027,11188688,10518933,10072593,9110174,8619474,7566098 68742 403 P36405,Q53X83,Q5JSM2 NM_004311,AL391121,CH471066,AA325516,AF038193,AF493889,AW269939,BC008032,BC009841,BC025759,BE780186,BQ638232,CD245572,CR407637,U07151 NP_004302,CAI40862,EAW49678,AAM12603,AAH09841,CAG28565,AAA21654,P36405,Q53X83,Q5JSM2,ABM84157,ABM87559 Hs.182215 GDB:321054 ARFL3 adp-ribosylation-like 3 protein-coding 1604399 ARL4A ADP-ribosylation factor-like 4A ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. 10462049,18240926,17398095,15489334,12690205,12477932,10980193,7829101 10124 NM_212460,NM_005738,AC011891,CH236948,CH471073,AF493890,AW022162,AW079064,BC001111,BC003027,BC039123,BI828864,BM550177,BQ948724,BU786406,CD049640,CR598643,CR614654,NM_001037164,U73960 NP_001032241,NP_997625,NP_005729,EAL24295,EAW93650,EAW93651,EAW93652,AAM12604,AAH01111,AAH03027,AAH39123,AAB39713,P40617 Hs.245540 ARL4 protein-coding 1354501 ARL4B ADP-ribosylation factor-like 4B 387684 XM_370560 1345856 ARL4C ADP-ribosylation factor-like 4C ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. 1580863 10462049,17398095,16713569,15489334,15147902,12477932 10123 NM_005737,AC097713,AC105145,CH471063,AB016811,AF493892,AJ579850,AJ579851,BC001051,BC089043,BM541491,BM904613,BT019378,BT019379,BU844902,CA413100,CD358707,CR623190,Y17804 NP_005728,AAX93114,EAW71073,EAW71074,BAA75473,AAM12606,CAE30322,CAE30323,AAH89043,AAV38185,AAV38186,CAB44355,P56559,Q4A519,Q53R10 Hs.699342,Hs.708716 GDB:9955270 ARL7|LAK adp-ribosylation factor-like 7 protein-coding 1315741 ARL4D ADP-ribosylation factor-like 4D ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). 1580863 7590735,17398095,15489334,15314642,15258860,12477932,12472661,10508919,10462049,8889548,7581362,7545954,16189514 379 NM_001661,AC087650,CH471178,AB060692,BC000043,BI547763,BM682844,BU729196,CR594484,CR597066,CR599185,CR601710,CR624413,L38490 NP_001652,EAW51681,EAW51682,BAB91080,AAH00043,AAA57126,P49703 Hs.658675,Hs.183153 GDB:631201 ARF4L|ARL6 protein-coding 1605276 ARL4P2 ADP-ribosylation factor-like 4 pseudogene 2 152709 NG_005394,AC131953 pseudo 1346010 ARL5A ADP-ribosylation factor-like 5A The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. 1580863 15896705,15489334,12477932,12450215,12414990,10931946 26225 CR613929,CX867116,CR612228,NM_012097,NM_001037174,NM_177985,AC097448,CH471058,AF087889,AF100740,AF493891,AK292714,BC001254,BG707385,BM800611,BQ216648,BT009829,BX461356,CR599449,CR607542,CR607846 Q580I5,Q9Y689,ABM82119,ABM85302,NP_036229,NP_001032251,NP_817114,AAX82013,EAX11495,EAX11496,EAX11497,AAP97188,AAD40383,AAM12605,BAF85403,AAH01254,AAP88831 Hs.470233 GDB:10795366 ARFLP5|ARL5 adp-ribosylation factor-like 5 protein-coding 1313675 ARL5B ADP-ribosylation factor-like 5B ARL8 belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM] 737633,1580863 15761153,15489334,15146197,14702039,12853149,12477932 737633 221079 NM_178815,AL512641,CH471072,EF444954,AF494061,AK027275,AL700452,BC024163,CN301486 NP_848930,EAW86190,ACA05947,AAM74076,BAB55011,AAH24163,Q5VV05,Q96KC2,ABM84092,ABM87463 Hs.25362 ARL8 adp-ribosylation factor-like 8 protein-coding 1316723 ARL5C ADP-ribosylation factor-like 5C 390790 XM_372668,XM_936698,AC004408 XP_372668,XP_941791 ARL12 adp-ribosylation factor-like 12 protein-coding 1313618 ARL6 ADP-ribosylation factor-like 6 The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. ARF proteins are important regulators of cellular traffic and are the founding members of an expanding family of homologous proteins and genomic sequences. They depart from other small GTP-binding proteins by a unique structural device that implements front-back communication from the N-terminus to the nucleotide-binding site. Studies of the mouse ortholog of this protein suggest an involvement in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been described. 1578724,1578725,1580863 16381901,15489336,15489334,15314642,15258860,12477932,12429613,11230166,11076863,10508919,10462049,8889548,7987310,16189514 1578724,1578725 84100 NM_032146,NM_177976,AC110491,CH471052,AK292958,AL136815,BC024239,BM705017,BU607306 NP_115522,NP_816931,EAW79880,EAW79881,EAW79882,EAW79883,EAW79884,BAF85647,CAB66749,AAH24239,Q0JTD0,Q0JVC0,Q9H0F7,CAL37540,CAL38233 Hs.373801 GDB:11510828 BBS3|MGC32934 protein-coding 1345801 ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 1580863 16189514,15489334,14702039,12754298,12477932,10995579,10508919,7584044 23204 CR617670,CR626095,D31885,NM_015161,AC138811,CH471186,AK291137,BC010281,BX648446,CR590895,CR601655,CR612657,CR622050 BAA06683,Q15041,NP_055976,EAW50257,EAW50258,BAF83826,AAH10281 Hs.634882 GDB:10796485 AIP1|ARL6IP|ARMER|KIAA0069 protein-coding 1312973 ARL6IP2 ADP-ribosylation factor-like 6 interacting protein 2 737633,1580863 15517445,12477932,10508919,9373149,8125298 737633 64225 NM_022374,AC016995,AF449187,CH471053,AK026946,AK225190,BC039050,BC053508 NP_071769,AAX88950,AAM97341,AAM97342,EAX00375,EAX00376,EAX00377,BAB15598,AAH53508,Q8NHH9 Hs.190440 ARL3IP2|ATL2|FLJ23293|atlastin2 protein-coding 1316976 ARL6IP4 ADP-ribosylation-like factor 6 interacting protein 4 1580863 10708573,14702039,12477932,11884129,16189514,10508919 51329 NM_001002251,NM_001002252,NM_016638,AC026362,CH471054,AB035384,AF267748,AK027285,AW189362,BC001958,BC015569,BC015909,BC094839,CR599283,CR600790,NM_018694,CR607411,CR608335,CR612958,CR622052,CR622330,CR624619,CR625814,CR626482,DQ099385 NP_061164,NP_001002251,NP_001002252,NP_057722,EAW98373,EAW98374,EAW98375,EAW98376,EAW98377,EAW98378,EAW98379,EAW98380,EAW98381,EAW98382,BAA94744,AAF76892,AAH01958,AAH15569,AAH15909,AAH94839,AAZ13761,Q66PJ3,Q8TEM4 Hs.103561 GDB:11510529 MGC814|SR-25|SRp25 protein-coding 1344465 ARL6IP5 ADP-ribosylation-like factor 6 interacting protein 5 Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. 1299537,1580863 17646425,17479403,17479402,17479401,17336041,16922813,16766476,16481131,16468075,16430862,16331563,16303743,15864752,15757671,15489334,14761432,12761501,12665801,12562531,12477932,12438930,12119102,11242046,11042152,10508919,9373149,8125298,16189514 1299537 10550 NM_006407,AC092060,CH471055,AB014765,AB052638,AB097051,AF070523,AF115965,AF125530,AF161476,AK074612,AK223566,AY102608,BC005143,BC020797,BC107899,BG483337,BU149630,CR592627,CR593457,CR604182,CR606544,CR606607,CR609765,CR611485,CR615177 NP_006398,EAW65473,EAW65474,BAC66462,BAD83603,BAC77404,AAC64360,AAP97237,AAF17224,O75915,AAF29091,BAD97286,AAM28950,AAH05143,AAH20797 Hs.518060,Hs.699963 DERP11|GTRAP3-18|HSPC127|JWA|PRAF3|addicsin|hp22|jmx protein-coding 1347021 ARL6IP6 ADP-ribosylation-like factor 6 interacting protein 6 14702039,12477932,10508919 151188 NM_152522,AC079344,CH471058,CQ834436,CQ834476,AF530059,AK023109,AK094696,BC028741,BC070140,CR600798,CR611032 NP_689735,AAX93217,EAX11475,EAX11476,EAX11477,EAX11478,CAH05433,CAH05453,AAQ09943,AAH28741,AAH70140,Q8N6S5 Hs.516468 MGC33864|PFAAP1 protein-coding 1342975 ARL6IPP1 ADP-ribosylation factor-like 6 interacting protein pseudogene 1 378712 1348114 ARL8A ADP-ribosylation factor-like 8A 737633,69939,1580863 15331635,14871887,16710414,16537643,15489334,12477932,8889548 737633,69939 127829 NM_138795,AL592300,CH471067,AB118752,AK127138,BC015408,BC053358,BC069053,BM548962,BM688638,BM999456,BU727024,BX421006,CR597275,CR624011 NP_620150,CAI13107,EAW91395,EAW91396,EAW91397,EAW91398,EAW91399,BAD23993,AAH15408,Q96BM9 Hs.497399,Hs.604697 ARL10B|FLJ45195|GIE2 adp-ribosylation factor-like 10b protein-coding 1351870 ARL8B ADP-ribosylation factor-like 8B 737633,1580863 15331635,14871887,16650381,16537643,15761153,15489334,14702039,12477932 737633 55207 BC013131,BC063125,CR457264,CR599429,CR602370,CR602466,CR606808,CR610251,CR615595,CR625965,NM_018184,AC021999,AC026202,CH471055,AB118751,AF086108,AK001564,AL110242 AAH13131,AAH63125,CAG33545,Q9NVJ2,NP_060654,EAW63919,EAW63920,EAW63921,EAW63922,BAD23992,BAA91759 Hs.250009 ARL10C|FLJ10702|Gie1 protein-coding 1606161 ARL9 ADP-ribosylation factor-like 9 15033445 132946 NM_206919,AC108215,AC114766,CH471057,AY439003 NP_996802,EAX05499,EAX05500,AAS07576,Q6T311,AAI41543,AAI48698 Hs.444449 protein-coding 1343337 ARMC1 armadillo repeat containing 1 1580863 15489334,14702039,12477932 55156 NM_018120,AC055822,AC100814,CH471068,AK001373,AK024053,AL512767,BC011607,BC018846,CR625619 NP_060590,EAW86880,BAA91656,BAB14803,CAC21684,AAH11607,Q9NVT9 Hs.269542 Arcp|FLJ10511 protein-coding 1605608 ARMC10 armadillo repeat containing 10 16303743,12853948,12839973,12477932,9373149,8125298 83787 NM_031905,AC007683,AC073127,AC108167,CH471070,CS051331,AF275808,AK075500,AK225082,AK291818,AY150851,AY150852,AY150853,AY150854,BC003586,CR591473,CR603265,CR613788,CR613957,CR618507,CR620954 NP_114111,AAS07531,AAS07482,AAS07456,EAW83311,EAW83312,EAW83313,CAI72160,BAC11655,BAF84507,AAN72313,AAN72314,AAN72315,AAN72316,AAH03586,Q8N2F6 Hs.287412 MGC3195|PNAS-112|SVH protein-coding 1350350 ARMC2 armadillo repeat containing 2 1580863 16381901,16344560,15489336,14702039,12477932,11230166,11076863 84071 NM_032131,AL390208,AL445189,CH471051,AK095234,AK292499,AL136754,AW195322,BC030603,DA196834 NP_115507,CAI16717,CAH71699,EAW48369,EAW48370,BAF85188,CAB66688,AAH30603,Q8NEN0,CAL37642,CAL38457 Hs.645481 DKFZP434P0714|RP11-787I22.1|bA787I22.1 protein-coding 1312695 ARMC3 armadillo repeat containing 3 Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM] 16915934,16397042,14702039,12477932 219681 NM_173081,AC079269,AL139815,CH471072,AK057389,AK090961,AK098711,AY436643,BC039312 NP_775104,CAH72188,CAH72189,EAW86137,EAW86138,EAW86139,BAB71463,BAC05389,AAR99738,AAH39312,Q5W041 Hs.659807 FLJ25845|FLJ32827|KU-CT-1|RP11-300B11.1 protein-coding 1315828 ARMC4 armadillo repeat containing 4 15164054,14702039,12477932,11230166 55130 NM_018076,AL355372,AL390866,CH471072,AK001238,AK001679,AK292521,AL136859,BC085611,BC140846 NP_060546,CAI16402,CAI12710,CAI12711,EAW86049,EAW86050,BAA91574,BAF85210,CAB66793,AAI40847,Q5T2S8,Q5T2S9,Q5U3C0,Q9NW14 Hs.127530 DKFZP434P1735|FLJ10376|FLJ10817|FLJ32798|RP11-691I13.1 protein-coding 1315235 ARMC5 armadillo repeat containing 5 1580863 14702039,12477932,11214971 79798 NM_024742,NM_001105247,AC026471,CH471192,AK023125,AK024430,AY217348,BC014945 NP_079018,NP_001098717,EAW52131,EAW52132,EAW52133,BAB14418,BAB15720,AAO45101,AAH14945,Q96C12 Hs.121915 FLJ00019|FLJ13063 protein-coding 1348624 ARMC6 armadillo repeat containing 6 The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. 737633 17353931,15489334,15057824,12477932 737633 93436 NM_033415,AC003038,AC004447,CH471106,BC003700,BC056161,BC067125,BX648486,CR592168,CR610326,CR610870,CR749678 NP_219483,AAD03162,EAW84775,EAW84776,AAH03700,AAH67125,CAH18469,Q68CW5,Q6NXE6 Hs.77876 MGC19595|R30923_1 protein-coding 1347915 ARMC7 armadillo repeat containing 7 737633,1580863 16189514,15489334,14702039,12477932 737633 79637 NM_024585,AC022211,AC111186,CH471099,AK025813,BC011728,CR608358,CR615145,CR622080 NP_078861,EAW89236,EAW89237,EAW89238,EAW89239,BAB15242,AAH11728,Q9H6L4 Hs.413047 FLJ22160 protein-coding 1601876 ARMC8 armadillo repeat containing 8 17467196,14702039,12477932,11042152 25852 NM_213654,NM_014154,AC022337,AC068777,BX538188,CH471052,AF109184,AF161541,AK001721,AK001882,AK098500,AK127341,AK128702,AK289577,AL096748,BC013424,BC032661,BC041699,NM_015396,BF966252,BQ719381,CR618018 NP_056211,NP_998819,NP_054873,EAW79075,EAW79076,EAW79077,EAW79078,EAW79079,EAW79080,EAW79081,EAW79082,AAQ13493,AAF29028,BAA91861,BAA91959,BAC86937,BAF82266,CAB46423,AAH13424,AAH32661,AAH41699,Q6ZSL1,Q8IUR7,Q9NZY0 Hs.266826 HSPC056|MGC10058|MGC4880|S863-2 protein-coding 1604597 ARMC9 armadillo repeat containing 9 16381901,16344560,15815621,15489336,15489334,14702039,12477932,11691810,11347906,11230166,11076863 80210 CA427360,CR608697,DA030137,NM_025139,AC009407,AC018738,CH471063,AB058771,AK022646,AK027163,AY219922,AY929062,BC004514,BC065271,BX537956 CAD97923,Q7Z3E5,Q9H5E8,CAL38172,NP_079415,AAX93129,EAW70950,EAW70951,EAW70952,EAW70953,EAW70954,EAW70955,EAW70956,BAB47497,BAB14153,BAB15678,AAO63554,AAX22760,AAH04514,AAH65271 Hs.471610 ARM|FLJ12584|KU-MEL-1 protein-coding 1345943 ARMCX1 armadillo repeat containing, X-linked 1 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. 1580863 16303743,15772651,15489334,14702039,12477932,11162520,9373149,8125298 51309 NM_016608,CH471115,CQ782722,Z73913,AB039670,AF248963,AK074785,AK222578,BC002691,CR616090,CR749609 NP_057692,EAX02874,EAX02875,CAF85956,CAI41999,BAA94603,AAG44561,BAC11208,BAD96298,AAH02691,CAH18404,Q68D26,Q9P291,ABM84422,ABM87397 Hs.9728 ALEX1|DKFZp686P06199 protein-coding 1602335 ARMCX2 armadillo repeat containing, X-linked 2 This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX1 and ALEX3, on the X chromosome. Two alternative transcripts that encode the same protein but differ in the 5' UTR have been described. Additional alternative transcripts may exist but their full length natures have not been determined. A pseudogene for this locus is located on chromosome 7. 15772651,15489334,15383276,12477932,11162520,9628581,8889548 9823 NM_014782,NM_177949,CH471115,Z83131,AB011084,AK291342,AL709063,BC012541,BC015926,BC052628,BG548388,BM676866,BX648494 NP_055597,NP_808818,EAX02885,EAX02886,EAX02887,EAX02888,EAX02889,EAX02890,EAX02891,CAI42019,CAI42020,CAI42021,CAI42022,CAI42023,CAI42024,BAA25438,BAF84031,AAH12541,AAH15926,Q5H9D7,Q5H9D8,Q5H9E0,Q5H9E1,Q7L311,ABM84493,ABM85249 Hs.48924 ALEX2|KIAA0512|MGC13343|MGC8742 protein-coding 1604814 ARMCX3 armadillo repeat containing, X-linked 3 This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. 17081983,15772651,15489334,12975309,12477932,12107410,11162520,11042152,9373149,8125298 51566 NM_016607,NM_177947,NM_177948,AL121883,CH471115,AB039669,AF211175,AK222655,AK291225,AL708980,AY359079,BC005194,BG035798,BM905704,BU838618,BX647802,CA397688,CR597012,CR616317,CR626124,CR933656 NP_057691,NP_808816,NP_808817,CAI42939,EAX02880,EAX02881,EAX02882,EAX02883,EAX02884,BAA94602,AAF24487,BAD96375,BAF83914,AAQ89438,AAH05194,CAI45955,Q9UH62,ABM83965,ABM87279 Hs.592225 ALEX3|DKFZp781N1954|KIAA0443|MGC12199|dJ545K15.2 protein-coding 1347581 ARMCX4 armadillo repeat containing, X-linked 4 737633 737633 158947 Q8N0S0 NM_152583,AK096955 1350791 ARMCX5 armadillo repeat containing, X-linked 5 737633 15772651,15489334,14702039,12477932 737633 64860 NM_022838,AL035551,CH471190,AK023031,AK023444,AK096692,BC000792,BC022066,BC047679,BC050678,BC058904,BC064983,CR749476 NP_073749,CAI42194,EAW54732,EAW54733,EAW54734,BAB14367,AAH00792,AAH58904,AAH64983,CAH18306,Q6P1M9 Hs.522729 DKFZp686A22185|FLJ12969|FLJ13382 protein-coding 1352776 ARMCX6 armadillo repeat containing, X-linked 6 737633,1580863 17081983,15772651,15489334,14702039,12477932 737633 54470 NM_001009584,NM_019007,AL121883,CH471115,AI076820,AK000818,AK097018,BC007677,CR591698,CR598648,CR599653,CR614615,CR624030,L20773 NP_001009584,NP_061880,CAI42938,EAX02877,EAX02878,EAX02879,BAA91387,AAH07677,Q5JWH9,Q7L4S7 Hs.83530 FLJ20811 protein-coding 1346634 ARMD1 age-related macular degeneration 1 (senile macular degeneration) 9715689 404 GDB:9834180 1316336 ARMET arginine-rich, mutated in early stage tumors This gene encodes a highly conserved protein whose function is not yet known. The protein was initially thought to be longer at the N-terminus and to contain an arginine-rich region but transcribed evidence indicates a smaller open reading frame that does not encode the arginine tract. The presence of a specific mutation changing the previously numbered codon 50 from ATG to AGG, or deletion of that codon, has been reported in a variety of solid tumors. With the protein size correction, this codon is now identified as the initiation codon. 1599219,1599220 15489334,12665801,12628928,12477932,10767373,9174057,8971156,8649854 1599219,1599220 7873 NM_006010,AC092037,CH471055,AK292243,BC007282,BC033055,BC113588,BC113590,BT007110,M83751 NP_006001,EAW65138,BAF84932,AAH07282,AAI13589,AAI13591,AAP35774,AAB08753,P55145 Hs.436446 GDB:9959049 ARP|MANF|MGC142148|MGC142150 protein-coding 1316888 ARMETL1 arginine-rich, mutated in early stage tumors-like 1 17611540,15146197,12477932,11752456,11329013 441549 NM_001029954,AC069544,CH471072,AK131035,AV657190,BC037872,BC133042,BC133044,BG213461,BQ025443,CN311321 NP_001025125,EAW86263,EAW86264,EAW86265,EAW86266,AAH37872,AAI33043,AAI33045,Q49AH0 Hs.559067 cdnf protein-coding 1606093 ARMS2 age-related maculopathy susceptibility 2 18461138,18452766,18436811,18423869,18400199,18325906,18292785,18248681,18164066,18162041,18161619,18079691,18061132,18054635,17884985,17846368,17692272,17675241,17485225,17456821,17426452,17352366,17347568,17325155,17285240,17194541,17000705,16954704,16642439,16174643,16080115,12477932 387715 NM_001099667,BX842242,BC066349,BC090924 NP_001093137,AAI60152 Hs.120359 ARMD8 protein-coding 732739 ARNT aryl hydrocarbon receptor nuclear translocator The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1 (HIF1). A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Three alternatively spliced variants encoding different isoforms have been described for this gene. 734608,1580863,634668 1317062,10395741,11782478,10777486,18366646,17559847,16567799,16554418,16520375,16410262,16364012,16129408,16111650,16096055,16084889,16007214,15837795,15492120,15485806,15231748,15190133,14701734,14638687,12774124,12754377,12586752,12477932,12354770,12032587,12024042,11879970,11835227,11768231,11756572,11502749,11393538,11129342,10999956,10692439,10594042,9887096,9373149,9328285,9271372,9111057,9079689,9020169,8940186,8927054,8794892,8384309,8244375,8125298,8065341,7716743,7628454,7539918,7488247,1852076,15635607,8663540,9113979,9704006 734608,634668 405 NM_178427,NM_001668,NM_178426,A92931,AL137290,AL355860,AY430083,CH471121,Y18500,Y18859,AB209877,AF001307,AK223459,AK290177,AK291705,AK293027,AL834279,BC028362,BC041121,BC060838,M69238 NP_848514,NP_001659,NP_848513,CAB69528,CAI12797,AAQ96598,EAW53510,EAW53511,EAW53512,EAW53513,EAW53514,CAB65056,CAC21446,BAD93114,AAC03365,BAD97179,BAF82866,BAF84394,BAF85716,CAD38953,AAH60838,AAA51777,O43392,P27540,Q53F30,Q59ED4,Q5QP39,Q6P9C1,Q8NDC7,Q9UH46 Hs.632446 GDB:119701 HIF-1beta|HIF1B|HIF1BETA|TANGO protein-coding 736413 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. 1580863,631760 12239177,16381901,15489336,15489334,12477932,12210012,11247670,11230166,11076863,10648817,9205841,14701734 631760 9915 CR610681,NM_014862,AC016705,AC108451,AF185610,CH471136,AB002305,BC029293,BC036099,BC051335,BX538026,BX647212 Q7Z3A3,Q86TN1,Q9HBZ2,CAL37851,ABM92227,ABM85102,Q0JUG0,NP_055677,AAG15310,EAW99114,BAA20766,AAH36099,AAH51335,CAD97972 Hs.459070 GDB:9785533 KIAA0307 aryl hydrocarbon receptor nuclear translocator 2 protein-coding 732520 ARNTL aryl hydrocarbon receptor nuclear translocator-like The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes. Three transcript variants encoding two different isoforms have been found for this gene. 734609,1580863 9616112,9576906,18228528,17994337,17728404,17457720,17274950,16628007,16528748,16507006,16474406,14750904,14702039,14701734,14701732,12897057,12477932,12397359,11875063,11441146,11439184,10531061,9989497,9704006,9144434,9079689,14645221 734609 406 NM_001030273,NM_001030272,AB000813,AC016884,AC022878,CH471064,NM_001178,AB000812,AB000814,AB000815,AB000816,AF044288,AK095749,AK128317,AK291510,BC016674,BC031214,BC041129,BE391243,CR611975,D89722,U51627,U60415 NP_001169,NP_001025444,NP_001025443,BAA19936,EAW68503,EAW68504,EAW68505,EAW68506,EAW68507,EAW68508,EAW68509,EAW68510,EAW68511,EAW68512,EAW68513,BAA19935,BAA19937,BAA19938,BAA19939,AAC24353,BAC87381,BAF84199,AAH16674,AAH31214,AAH41129,BAA19968,AAC51213,AAB37248,O00327,Q4G136,Q6ZRD1,Q8IUT4,ABZ91992 Hs.65734 GDB:9499440 BMAL1|BMAL1c|JAP3|MGC47515|MOP3|PASD3|TIC protein-coding 737603 ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 1580863 11018023,18228528,15489334,12477932,12055078,11554928,10964693,10864977,14701734 56938 NM_020183,AC068794,AC092829,CH471094,AB039921,AF231338,AF231339,AF246960,AF246961,AF246962,AF246963,AF256215,BC000172,BC043511,BC125061,BC125062 NP_064568,EAW96552,EAW96553,EAW96554,BAB01485,AAF71306,AAF71307,AAL50339,AAL50340,AAL50341,AAL50342,AAG34652,AAH00172,AAI25062,AAI25063,Q8WYA1 Hs.434269,Hs.663740 BMAL2|CLIF|MGC149671|MGC149672|MOP9|PASD9 transcription factor bmal2 protein-coding 1344294 ARPC1A actin related protein 2/3 complex, subunit 1A, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. 631743,1580863 8978670,17353931,17072959,15635413,15489334,12853948,12690205,12477932,9373149,9359840,9230079,8125298 631743 10552 NM_006409,AC004834,AC004922,CH236956,CH471091,AB209059,AK223015,BC006445,BC039594,BC047889,BC054027,BM924483,CR591610,CR595042,CR600813,CR601171,CR601183,CR601759,CR603938,CR605912,CR606734,CR606751,CR611053,CR612084,CR613605,CR613775,CR613946,CR614445,CR615464,CR615755,CR618987,CR621448,CR622539,CR622858,CR623383,CR624023,CR624164,CR624757,Y08999,CR614310 NP_006400,AAS00381,EAL23883,EAW76681,EAW76682,EAW76683,BAD92296,BAD96735,AAH39594,AAH47889,AAH54027,CAA70203,Q53GB6,Q59GQ0,Q75MY0,Q92747 Hs.124126 GDB:9957638 Arc40|SOP2Hs|SOP2L protein-coding 736395 ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. 631743,1580863 17353931,9230079,16723437,15635413,15489334,15279900,14749719,12853948,12690205,12665801,12477932,12115587,11943145,11741539,11721045,11533442,9359840,9126924,9110174,8619474,16189514,9000076,11162547 631743 10095 CR619394,CR623271,CR624159,AC004922,CH236956,CH471091,AF006084,AF076198,AY007111,BC002562,BC002988,BC007555,CR592828,CR593544,CR594964,CR595319,CR597644,CR598240,CR611029,CR611876,CR612223,CR613210,CR615560,CR617089,CR617273,CR618425,CR625033,CR625652,U55094,U96280,U96285,CR599109,CR600794,CR600996,CR601410,CR602696,CR603393,CR605560,CR606115,CR606640,CR607425,CR608284,CR610935,NM_005720 NP_005711,EAL23882,EAW76677,EAW76678,EAW76679,EAW76680,AAB64189,AAC28687,AAH02562,AAH02988,AAH07555,AAB03921,AAB67782,AAB67787,O00557,O15143,ABM83095,ABM86289 Hs.449574,Hs.489284,Hs.696405 GDB:9954993 ARC41|p40-ARC|p41-ARC actin related protein 2/3 complex, subunit 1b protein-coding 1314126 ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. 631743,1580863 17350576,17353931,9230079,16027158,15793564,15635413,15489334,15279900,14702039,12665801,12477932,11741539,11721045,11162547,10235267,9359840,8812419,9000076 631743 10109 NM_152862,NM_005731,AC021016,AC097483,CH471063,AF006085,AF279893,AK092520,AK093625,AK290268,BC000590,BG765898,BT006898,CR591086,CR593196,CR594692,U50523 NP_690601,NP_005722,AAX93213,EAW70591,EAW70592,EAW70593,EAW70594,EAW70595,EAW70596,EAW70597,AAB64190,AAK07550,BAF82957,AAH00590,AAP35544,AAC50874,O15144,Q53R19,Q9BXV5 Hs.529303 GDB:9955238 ARC34|PNAS-139|PRO2446|p34-Arc protein-coding 1323728 ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p21 subunit, has yet to be determined. 631743,1580863 17353931,9230079,16169070,15793564,15635413,15489334,12665801,12477932,11790298,11741539,11721045,11162547,11146629,9359840,9000076 631743 10094 O15145,Q2LE71 NM_005719,AC144548,CH471054,AF004561,AF006086,BC067747,BC078162,BG723870,BM999380,CR407667,CR595174,CR606213,CR611961,CR616701,DQ328220 NP_005710,EAW97912,EAW97913,AAB61466,AAB64191,AAH67747,AAH78162,CAG28595,ABC59627,O15145,Q2LE71 Hs.524741 GDB:9954991 ARC21|p21-Arc protein-coding 1353664 ARPC3B actin related protein 2/3 complex, subunit 3B, 21kDa 17353931 87171 NG_002363,AL133174 GDB:11502757 dJ470L14.3 pseudo 1320803 ARPC4 actin related protein 2/3 complex, subunit 4, 20kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p20 subunit, has yet to be determined. Three transcript variants encoding two distinct isoforms have been found for this gene. 631743 11162547,9230079,17274980,16169070,15635413,15489334,14702039,12665801,12477932,11741539,11721045,9359840,17353931,9000076,12451597 631743 10093 NM_005718,NM_001024959,NM_001024960,AC022382,CH471055,CR617543,CR624081,AF006087,AF019888,AK074205,AW408422,BC012596,BI768875,BM045872,CR591140,CR596225,CR600023,CR603965,CR604776,CR605099,CR608569,CR609085,CR609636,CR609728,CR610621,CR614127,CR614179,CR615155,CR615394 NP_005709,NP_001020130,NP_001020131,P59998,AAI52791,AAB64192,AAB71548,AAH12596,EAW64001 Hs.323342 GDB:9954990 ARC20|MGC13544|p20-Arc protein-coding 1323427 ARPC5 actin related protein 2/3 complex, subunit 5, 16kDa This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. 631743,1580863 17353931,9230079,9359840,16710414,15489334,14702039,12829704,12665801,12477932,11741539,11721045,11162547,9000076,12451597 631743 10092 NM_005717,AL137800,CR626606,AK095424,AK129598,BC057237,BI758106,CR591569,CR591801,CR595907,CR598054,CR598282,CR598841,CR599431,CR604294,CR609144,CR609655,CR611261,CR613345,CR615806,CR620410,CH471067,AF006088,AF017807 NP_005708,O15511,Q5JV72,AAI52790,AAH57237,CAC19687,CAI19481,CAI19482,EAW91163,EAW91164,AAB64193,AAB70561 Hs.696116 GDB:9954989 ARC16|dJ127C7.3|p16-Arc protein-coding 1318888 ARPC5L actin related protein 2/3 complex, subunit 5-like 1580863 17353931,17081983,16169070,15489334,15164053,14702039,12477932 81873 CR604261,NM_030978,AL354928,CH471090,AF087842,AK056174,BC000018,BC000798,BC002418,BC031388,CR590465,CR616144,CR607056,CR611360,CR612746 NP_112240,CAI39641,EAW87603,EAW87604,AAP97155,AAH00018,AAH00798,AAH02418,Q9BPX5 Hs.132499 ARC16-2|MGC3038 protein-coding 1607001 ARPM1 actin related protein M1 15489334,14702039,12477932,11750065 84517 NM_032487,AB049117,AC078802,AK055346,BC007289 NP_115876,BAB39481,BAB70906,AAH07289,Q9BYD9,ABM87440,ABW03891 Hs.135411 MGC15664 protein-coding 1606318 ARPP-19 cyclic AMP phosphoprotein, 19 kD 9653196,15489334,14702039,12477932,11771749,10754390,8120638,2160982 10776 NM_006628,AC025917,CH471082,AF084555,AJ223091,AK023195,AK123616,AL833077,AW407610,BC003418,BC100015,BQ422616,CR457132,CR593448,CR620536 NP_006619,EAW77454,EAW77455,AAD52044,CAA11115,CAD89929,AAH03418,AAI00016,CAG33413,P56211 Hs.512908 GDB:9958271 ARPP-16|ARPP16|ARPP19|FLJ41622 protein-coding 1606317 ARPP-21 cyclic AMP-regulated phosphoprotein, 21 kD 15489334,15144186,14702039,12477932,10931946,8889548,8120638 10777 AAB30130 NM_016300,NM_001025069,NM_001025068,NM_198399,AC016943,AC104308,AC133143,CH471055,AF112220,AK055064,AK057559,AK091377,AK093648,AK289649,AK289868,AL133109,AV718064,AV718166,BC017805,BC031106,BC036399,BC036548,BC041385,BC051828,BC066651,BG535216,BQ423297,BU741999,BX488342,BX537647 NP_057384,NP_001020240,NP_001020239,NP_938409,EAW64470,EAW64471,EAW64472,AAF17207,BAF82338,BAF82557,CAB61414,AAH17805,AAH31106,AAH36399,AAH36548,AAH41385,AAH51828,AAH66651,AAB30130,Q9UBL0 Hs.475902,Hs.709457 GDB:9958272 FLJ32997|RCS protein-coding 1350252 ARR3 arrestin 3, retinal (X-arrestin) 1580863 9931451,9852134,9827808,8612728,8308033,8224247,17353931,16189514,15772651,15489334,12918707,12853434,12850288,12824223,12486395,12477932,11877451,11729201,11063754 407 NM_004312,AF076512,AL357752,CH471132,AF033105,BC012096,BG472156,CR456849,U03626 NP_004303,AAC27524,CAI41490,CAI41491,EAX05348,EAX05349,EAX05350,EAX05351,AAB84302,AAH12096,CAG33130,AAC78395,P36575,ABM83169,ABM86370 Hs.308 GDB:269808 ARRX protein-coding 732370 ARRB1 arrestin, beta 1 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described, however, their exact functions are not known. 1580863,1578803 15878855,15699339,15611106,15514408,15498833,15489334,15489220,15125834,15084596,14711824,14709160,12582207,12538596,12477932,12464600,12399592,12393857,12220636,12105416,12065593,12020767,11867621,11777907,11742073,11726668,11579203,16181421,11533043,2163110,17353931,9924018,10823817,17947233,17623778,17436063,17377064,17272726,17008309,16709866,16670094,16580177,16492667,16432186,16407241,16319069,16280323,16189514,11278883,10347142,10196135,9827808,9668034,9501202,9388255,9169477,8889548,8885248,8486659,7896272,14500724,11259507,11170396,10973280,10862778,10770944,10753943,10347182 1578803 408 NM_020251,NM_004041,AP000744,AP001972,CH471076,DQ314865,AF084040,AF084940,AK074660,AK289718,BC003636,BQ883950,BU594296,BX402200,CB853136,CD365891,CR596009,CR604447,CR604964,CR612323,CR613470,CR620471,L04685 NP_064647,NP_004032,EAW74960,EAW74961,EAW74962,ABC40724,AAC33295,AAC34123,BAF82407,AAH03636,AAA35558,AAA35559,P49407 Hs.503284,Hs.625320 GDB:141541 ARB1|ARR1 protein-coding 731570 ARRB2 arrestin, beta 2 Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 1580863,734975 17353931,9346876,18039931,18036556,17984062,17978999,17761157,17713785,17579607,17565992,17540773,17377064,17272726,17256744,17233643,17038311,17005854,16968782,16894395,16820410,16689683,16605244,16580177,16513835,16308565,16181421,16103897,16038799,15888437,15817468,15728711,15699339,15699045,15687500,15635042,15634674,15626751,15618519,15528268,15489334,15489220,15364949,15355986,15231748,15125834,14769794,14711824,14702039,12958365,12958364,12949261,12654503,12582207,12538596,12488444,12477932,12473660,12464600,12370187,12186555,12105416,12070169,11877451,11867621,11729201,11588219,11535606,11533043,11356842,11279203,11259507,11226259,15361545,11090355,10858453,10644702,10097102,9668034,9037196,8486659,7695743,1587386,1517224,16189514,14500724 734975 409 NM_004313,NM_199004,AC091153,CH471108,DQ314866,AB209786,AF106941,AK097542,AK290951,BC007427,BC039066,BC067368,BC095450,BG723452,CR450310,CR591682,CR595738,CR609288,CR618545,CR619621,CR620216,CR620652,CR749218,DQ664180,Z11501 NP_004304,NP_945355,EAW90419,EAW90420,EAW90421,EAW90422,ABC40725,BAD93023,AAC99468,BAC05094,BAF83640,AAH07427,AAH67368,CAG29306,CAH18075,ABG47460,CAA77577,P32121,Q59EM5,Q68DZ5,ABM84152,ABM87555,ABW03579 Hs.435811 GDB:141542 ARB2|ARR2|BARR2|DKFZp686L0365 protein-coding 1320585 ARRDC1 arrestin domain containing 1 737633 15489334,15164053,14702039,12477932 737633 92714 NM_152285,AL365502,CH471090,AA552336,AB209523,AJ420420,AK001822,AL542109,BC032346,CR595686,CR596025,CR596578,CR596744,CR596964,CR597223,CR597743,CR603346,CR603444,CR603736,CR603835,CR604807,CR605706,CR608402,CR609326,CR610824,CR611460,CR617572,CR618757,CR621522,CR623487,CR625126,CR627251 NP_689498,CAI14587,CAI14588,CAI14589,EAW88403,EAW88404,EAW88405,BAD92760,AAH32346,Q59FD7,Q8N5I2 Hs.12999 MGC40555|RP11-48C7.5 protein-coding 1320117 ARRDC2 arrestin domain containing 2 15498874,15489334,14702039,12477932,9110174,8619474 27106 NM_001025604,NM_015683,AC020904,CH471106,AF131826,AF193051,AK000689,AK127940,AK128588,BC022516,BQ940909 NP_001020775,NP_056498,EAW84648,EAW84649,EAW84650,EAW84651,AAD20053,AAG22479,BAC87200,BAC87514,AAH22516,Q6ZR10,Q8TBH0 Hs.515249 CLONE24945|PP2703 protein-coding 1348140 ARRDC3 arrestin domain containing 3 737633 16269462,15489334,12477932,10718198 737633 57561 NM_020801,AC008799,CH471084,CS300561,AB037797,AK025028,AK026917,AK291753,BC015928,BC053619,CR596450,CR608314 NP_065852,EAW95997,CAK32225,BAA92614,BAF84442,AAH15928,AAH53619,Q96B67 Hs.24684 KIAA1376|TLIMP protein-coding 1323388 ARRDC4 arrestin domain containing 4 737633 15489334,14702039,12477932 737633 91947 NM_183376,AC024651,CH471101,AK026436,AK093364,AK290221,BC028704,BC038453,BC070100 NP_899232,EAX02213,EAX02214,BAF82910,AAH28704,AAH70100,Q8NCT1 Hs.6093 FLJ36045 protein-coding 1353583 ARRDC5 arrestin domain containing 5 12886014 645432 NM_001080523,AC027319 NP_001073992,A6NEK1 Hs.574574 protein-coding 1604811 ARS2 arsenate resistance protein 2 17353931,11239002,18086880,17672918,17081983,16964243,16169070,15489334,15302935,15009096,15345747,12869526,12690205,12477932,11230166,10069470 51593 AF248955,AL096723,AW770857,BC000082,BC069249,BC109116,BC109117,BE247268,BE297447,BF515651,BG477711,BG685713,BQ059529,CR610730,CR615585,NM_182800,NM_015908,NG_007474,AC011895,AF237614,AF312032,CH236956,CH471091,AF082871,AF112994 AAM00189,CAB46374,AAH00082,AAH69249,AAI09118,Q6NT74,Q7Z4Y3,Q8TDQ5,Q9BXP5,Q9HBI2,AAP97227,NP_877952,NP_056992,AAG24951,AAK21005,AAK21006,EAL23815,EAL23816,EAW76465,EAW76466,EAW76467,AAD17774 Hs.111801 ASR2|MGC126427 protein-coding 1321256 ARSA arylsulfatase A The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Multiple alternatively spliced transcript variants, one of which encodes a distinct protein, have been described for this gene. 1358434,1599223,1358435,1580863 2562955,18248830,17845130,17660863,17560502,17329011,16782379,16678723,16344560,16341674,16311251,16140556,16110195,15772092,15710861,15489334,15461802,15375602,15342556,15188402,15146197,15026521,14702039,12888274,12788103,12477932,12473917,12459318,12081727,11941485,11857580,11777924,11456299,11333871,11124905,11061266,10591208,10493829,10359658,10220151,9888390,9744473,9668161,9600244,9521684,9490297,9090526,8723680,8104633,8101083,8101038,8095918,7981715,7909527,7906588,7902317,7866401,7833949,7825603,7815433,7628016,7581401,7192199,2574462,1975241,1684088,1678251,1676699,1674719,1673291,1670590,1357970,1353340,1352993,1352356,36611,16189514,7860068,7858169 1358434,1599223,1358435 410 NM_000487,NM_001085425,NM_001085428,NM_001085426,NM_001085427,AY271820,CH471138,U62317,X52150,AK092752,AK098659,BI770997,BM818814,BP306351,BU632196,BX648618,CA423492,CN409235,CR456383,CR590422,CR598173,CR599839,CR600807,CR607373,CR613582,CR614235,DA844740,X52151,BC014210 NP_000478,NP_001078894,NP_001078897,NP_001078895,NP_001078896,AAP03431,EAW73582,EAW73583,AAB03341,CAA36398,AAH14210,CAH56144,CAG30269,CAA36399,P15289,Q63HL5,CAK54372,CAK54671,ABM83843,ABM87165 Hs.88251 GDB:119007 MLD protein-coding 737370 ARSB arylsulfatase B Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1599228,1580863 2303452,1718978,17643332,17458871,17324393,16435196,14974081,12477932,11802522,11668612,10738004,10036316,9582121,9032078,8889548,8723688,8651289,8541342,8125475,8116615,7687847,7628016,6767391,4215420,1968043,1930244,1550123,1390929,1301949 1599228 411 NM_000046,NM_198709,NG_007089,AC020937,AC025755,AC099485,AC114963,CH471084,S57777,X72735,AI244301,AI457798,AI821478,AK026942,AK290865,AL135624,AW236748,BC029051,BC036609,BM664932,BQ216635,BQ775217,BX350102,BX364854,BX369127,CR590324,J05225,M32373 NP_000037,NP_942002,EAW95821,EAW95822,EAW95823,AAB19988,CAA51272,BAF83554,AAH29051,AAA51784,AAA51779,P15848,Q8N322 Hs.149103,Hs.604199 GDB:119008 ASB|G4S|MPS6 protein-coding 1350901 ARSC2 arylsulfatase C, isozyme F 1690506,6586638 413 GDB:119702 1353523 ARSD arylsulfatase D The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. This encoded protein is postranslationally glycosylated and localized to the lysosome. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7720070,14702039,12477932,11177574,11027669,8845834 414 NM_001669,NM_009589,AC005295,CH471074,AF160499,AK021472,AK055239,BC020229,BC080179,X83572 NP_001660,NP_033667,EAW98713,EAW98714,EAW98715,EAW98716,AAF22253,AAH20229,CAA58555,P51689 Hs.528631 GDB:555723 protein-coding 1343522 ARSDP arylsulfatase D pseudogene 12815422,8845834 10034 NG_000881,AC002992 GDB:9954909 pseudo 1312633 ARSE arylsulfatase E (chondrodysplasia punctata 1) Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. 1580863,1599238 9192838,7720070,18348268,12567415,11177574,9497243,9409863,9373149,8845834,8125298 1599238 415 NM_000047,NG_007091,AC005295,CH471074,AK223183,AK223199,AW779826,BC130438,X83573 NP_000038,EAW98717,EAW98718,EAW98719,EAW98720,BAD96903,BAD96919,AAI30439,CAA58556,P51690 Hs.386975 GDB:555743 CDPX|CDPX1|CDPXR|MGC163310 protein-coding 1344063 ARSEP arylsulfatase E pseudogene 12815422,8845834 10033 NG_000880,AC002992 GDB:9954907 pseudo 1344739 ARSF arylsulfatase F This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. 1580863 9192838,12477932,9685421,9229115,7720070 416 P54793 NM_004042,AC112653,CH471074,BC022389,BQ228278,X97868 NP_004033,EAW98722,AAH22389,CAA66462,P54793 Hs.101674 GDB:555747 ASF protein-coding 1353090 ARSFP arylsulfatase F pseudogene 12815422 23757 NG_002804,AC004772 GDB:10795289 pseudo 1602225 ARSG arylsulfatase G Sulfatases, such as ARSG, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 12975309,12477932,10231032,12461688,16174644,12345,15489334 22901 NM_014960,AC005332,AC007780,CH471099,AB023218,AY358380,BC012375,CR593524 NP_055775,EAW89055,EAW89056,BAA76845,AAQ88746,AAH12375,Q96EG1 Hs.437249 KIAA1001 protein-coding 1605805 ARSH arylsulfatase family, member H Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644 347527 AC112653,CH471074,AY875940,NM_001011719 NP_001011719,EAW98721,AAW66668,Q5FYA8,AAI48493,AAI53086 Hs.351533 sulfatase protein-coding 1604953 ARSI arylsulfatase family, member I Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644,16500042,16344560,15146197,14702039,12477932 340075 NM_001012301,AC011372,CH471062,CQ866756,AK122641,AY875937,BC111002,BC129995,BC129996,CN369733,DA264664,DA759270 NP_001012301,EAW61740,CAH25968,AAW66665,AAI29996,AAI29997,Q5FYB1 Hs.591252 FLJ16069 protein-coding 1606235 ARSJ arylsulfatase family, member J Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644,16500042,16344560,15489334,12975309,12477932 79642 NM_024590,AC104779,AI087279,AK027201,AM049401,AY358647,AY875938,BC032010,BC033156,BC089445,BC132879,BC132881,BC142701,BG661302,DA031262,DA884606 NP_078866,BAB15689,CAJ18095,AAQ89010,AAW66666,AAH32010,AAH89445,AAI32880,AAI32882,Q1HA39,Q5FYB0,Q9H5D8,Q8N5N6 Hs.22895,Hs.712042 FLJ23548 protein-coding 1606445 ARSK arylsulfatase family, member K Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM] 16174644,16500042,15489334,12975309,12477932 153642 AC008547,NM_198150,AC090071,CH471084,CQ866752,AL832711,AY358596,AY875939,BC036047,BC050392,BC130329 NP_937793,EAW96039,EAW96040,CAH25966,CAD38634,AAQ88959,AAW66667,AAH36047,AAH50392,AAI30330,Q3ZCW3,Q6UWY0,Q86W75 Hs.585051 DKFZp313G1735|TSULF protein-coding 1312119 ART1 ADP-ribosyltransferase 1 ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. 1580863 7947688,9119374,17614107,16627471,12477932,11498506,10092875,8812442 417 BC069102,BC069828,BC111729,S74683,NM_004314,NM_001104538,AC060812,CH471158,AJ291430 CAC69964,AAH69102,AAI11730,AAB32387,P52961,Q6NTD2,NP_004305,NP_001098008,EAX02558,EAX02559 Hs.382188 GDB:5302695 ART2|CD296|MGC133217|RT6 protein-coding 1350034 ART2P ADP-ribosyltransferase 2 (RT6 antigen homolog, rat) pseudogene 8812442,8005606,7966280 418 NG_001076,AP003785,AP005019,X65050 GDB:139097 ART1P|RT6 pseudo 1320437 ART3 ADP-ribosyltransferase 3 ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases, such as ART3, transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases (see PARG; MIM 603501) reverse the reaction (Glowacki et al., 2002 [PubMed 12070318]).[supplied by OMIM] 1580863 9119374,18266473,16934346,16625277,15489334,12477932,12070318,11879200,10460751,9373149,8605984,8125298 419 NM_001179,AC112719,CH471057,X95827,AK225860,AY543655,AY543656,AY543657,AY543658,AY543659,AY543660,AY550336,AY550337,AY550338,AY550339,AY550340,AY550341,AY550342,AY550343,AY550344,AY550345,AY550346,BC008397,BC017913,BT007249,CR541664,U47054 NP_001170,EAX05765,EAX05766,EAX05768,EAX05769,EAX05770,EAX05771,CAA65096,AAT10277,AAT10278,AAT10279,AAT10280,AAT10281,AAT10282,AAT45030,AAT45031,AAT45032,AAT45033,AAT45034,AAT45035,AAT45036,AAT45037,AAT45038,AAT45039,AAT45040,AAH08397,AAH17913,AAP35913,CAG46465,AAB01894,Q13508,Q53XW3,Q5J1K4,Q5J1K5,Q5J1K6,Q5J1K7,Q5J1K8,EAX05767,Q5J1K9,Q5J1L0,Q5J1L1,Q5J1L2,Q5J1P8,Q5J1Q0,Q6FHT7,ABM84209,ABM87613 Hs.24976 GDB:9835682 protein-coding 1315084 ART4 ADP-ribosyltransferase 4 (Dombrock blood group) This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. 1580863 9119374,11001920,16140404,15847654,15489334,12519438,12477932,12070318,12028057,11896313,11520417,10971215,8882867,6034522 420 NM_021071,NG_007477,AC007655,AF340233,AF340234,AF382212,AF382213,AF382215,AF382216,AF382218,AF382219,AF382222,AF382225,AY899803,CH471094,X95826,AF290204,AK291662,AY690666,AY829431,AY829432,AY829433,AY829434,AY829435,AY829436,AY829437,BC074727,BX096478,CR746266,DQ072851 NP_066549,AAK11274,AAK11275,AAM21462,AAM21464,AAM21465,AAM21466,AAM21467,AAW65375,EAW96332,CAA65095,AAG17845,BAF84351,AAW02794,AAX39378,AAX39379,AAX39380,AAX39381,AAX39382,AAX39383,AAX39384,AAH74727,Q5IRA6,Q93070,Q3KZ25,Q3KZ26,Q3KZ27,Q3KZ28,Q3KZ29,Q3KZ30 Hs.591158,Hs.655792,Hs.668803 GDB:118787 CD297|DO|DOK1 dombrock blood group protein-coding 1347628 ART5 ADP-ribosyltransferase 5 The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Transcript variants with different 5' UTRs, but encoding the same protein have been found for this gene. 634606,1580863 15489334,12975309,12477932,12070318,11587854,10448534 634606 116969 NM_001079536,NM_053017,AC060812,CH471158,AW241897,AY358466,BC014577,BI825352,CD557970,Y16835 NP_001073004,NP_443750,EAX02555,EAX02556,EAX02557,AAQ88831,AAH14577,CAC79987,Q86W02,Q96L15 Hs.125680 MGC22848 protein-coding 1347630 ARTN artemin The protein encoded by this gene is a member of the glial cell line-derived neurotophic factor (GDNF) family of ligands which are a group of ligands within the TGF-beta superfamily of signaling molecules. GDNFs are unique in having neurotrophic properties and have potential use for gene therapy in neurodegenrative disease. Artemin has been shown in culture to support the survival of a number of periferal neuron populations and at least one population of dopaminergic CNS neurons. Its role in the PNS and CNS is further substantiated by its expression pattern in the proximity of these neurons. This protein is a ligand for the RET receptor and uses GFR-alpha 3 as a coreceptor. Four alternatively spliced transcripts have been described, two of which encode the same protein. 9883723,16765900,16734417,16710414,15829225,15489334,12477932,10673327,10583383,9808338,9448325 9048 AF109401,AF120274,BC062375,NM_003976,NM_057091,NM_057090,NM_057160,AF115765,AJ245628,AL357079,CH471059 EAX07080,EAX07081,AAC98690,AAD21075,AAH62375,Q5T4W7,NP_003967,NP_476432,NP_476431,NP_476501,AAD13109,AAD13110,CAB52396,CAI16797,EAX07074,EAX07075,EAX07076,EAX07077,EAX07078,EAX07079 Hs.632404 GDB:9954806 ENOVIN|EVN|NBN protein-coding 1349198 ARV1 ARV1 homolog (S. cerevisiae) 1580863 16710414,15489334,14702039,12477932,12145310,11063737 64801 NM_022786,AL732414,AL844165,CH471098,AF271780,AF290878,AF321442,AK026629,AK293049,AL122047,BC016309,CR624344 NP_073623,CAH73698,CAH73699,CAH73700,CAH73701,CAI15332,CAI15333,CAI15334,CAI15335,EAW69934,EAW69935,EAW69936,EAW69937,EAW69938,EAW69939,EAW69940,EAW69941,AAG44791,AAG47671,AAK11180,BAB15513,BAF85738,CAB59183,AAH16309,Q9H2C2 Hs.705482 protein-coding 1315392 ARVCF armadillo repeat gene deletes in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family which play an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS) a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. 1578806,1580863 9126485,18198266,16118784,15509897,15456900,15345747,15340358,14702039,12477932,11821434,11058098,10725230,9721216,9192844,7677167 1578806 421 NM_001670,AC005663,CH471176,AK092664,BC036893,CR590273,CR623754,U51269 NP_001661,EAX03007,EAX03008,EAX03009,BAC03941,AAH36893,AAC51202,O00192,Q05BN6,Q8NAH4 Hs.370408 GDB:4096957 FLJ35345 protein-coding 1353866 ARVD1 arrhythmogenic right ventricular dysplasia 1 1578811 7951245 1578811 422 GDB:371339 1353946 ARVD2 arrhythmogenic right ventricular dysplasia 2 1578810 8589694 1578810 423 GDB:625376 1349140 ARVD3 arrhythmogenic right ventricular dysplasia 3 1578812 8824801 1578812 424 GDB:6407106 1345748 ARVD4 arrhythmogenic right ventricular dysplasia 4 1578812 9344647 1578812 425 GDB:6474630 1343657 ARVD5 arrhythmogenic right ventricular dysplasia 5 1579676 9860777 1579676 23745 GDB:9865536 1344380 ARX aristaless related homeobox This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. 1599257,1599258,1598407,1580863 8826462,8826457,3177452,1605216,17668384,17664401,17641262,17613295,17490853,17480217,17082467,17044103,16988001,16845484,16523516,15850492,15726411,15707237,15533998,15199382,14722918,12874418,12874405,12736870,12379852,12376949,12376946,12359145,12177367,12142061,11971879,11889467,10920247,10398246,10398243,9001795,8826464 1599257,1599258 170302 NM_139058,AC002504,CH471074,AA484051,BF196892,BQ100952,BQ269551,CA775911,AY038071 NP_620689,EAW99031,EAW99032,AAK93901,Q96QS3 Hs.300304 GDB:128367 ISSX|MRX29|MRX32|MRX33|MRX36|MRX38|MRX43|MRX54|MRX76|MRX87|MRXS1|PRTS protein-coding 1342748 AS ankylosing spondylitis 426 GDB:135697 1350697 AS3MT arsenic (+3 oxidation state) methyltransferase AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM] 625365,1580863 18414634,18334919,17889916,17850829,17637926,17450230,17306849,16407288,16344560,15929903,15808521,12477932,11790780,9373149,8125298 625365 57412 NM_020682,AL358790,CH471066,AF226730,AK057833,AK225972,BC119637,BC119638,DA368970 NP_065733,EAW49668,EAW49669,AAG09731,AAI19638,AAI19639,Q0VDK3,Q0VDK4,Q5PZ02,Q9HBK9,AAI60057 Hs.709828 CYT19 protein-coding 734135 ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. 734977,1580863 8955159,17713573,16806233,16500425,16344560,16335952,16263699,15489334,15088070,14702039,12815059,12764132,12754519,12638942,12477932,11451951,11241842,10974027,10959093,10610716,9838138,9373149,8889549,8125298,7744740 734977 427 NM_004315,NM_177924,NM_001127505,AC124242,AF220175,CH471080,AK025211,AK025732,AK098299,AK222780,AK289481,AY305384,BC016481,BC016828,BC035453,BG714023,BU633536,CB216602,CR602103,CR626069,DA260852,DA306573,DB561177,H78830,U47674,U70063 NP_004306,NP_808592,NP_001120977,AAF91230,EAW63791,EAW63792,EAW63793,EAW63794,EAW63795,BAB15085,BAD96500,BAF82170,AAQ75550,AAH16481,AAH16828,AAC73009,AAC50907,Q13510,Q53H01,Q6W898,Q96AS2,Q9H715,ABM81997,ABM85180 Hs.527412,Hs.633993 GDB:6837715 AC|ASAH|FLJ21558|FLJ22079|PHP|PHP32 n-acylsphingosine amidohydrolase (acid ceramidase) protein-coding 1605058 ASAH2 N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM] 10781606,17982236,17475390,17334805,16940153,16229686,16061940,15946935,15845354,15489334,15210766,15164054,14557071,12477932,11328816,10753931,8076819 56624 NM_019893,AL450382,AY049008,CH471142,AF250847,AF449759,BC107105 NP_063946,CAI15870,AAL06061,EAW80435,EAW80436,AAF86240,AAQ04667,AAI07106,Q9NR71 Hs.512645 GDB:11509012 HNAC1|MGC129777 protein-coding 1347222 ASAH2B N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B 17334805,15146197 653308 NM_001079516,AL589794 NP_001072984,CAI15766,CAI15767 Hs.659820 ASAH2C|ASAH2L|bA449O16.3 protein-coding 1344716 ASAH2C N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C 17334805,16229686,16061940,15946935,15845354,15489334,15164054,14557071,10781606 653365 XM_927086,AL954360 XP_932179,CAI17190 Hs.537110 bA98I6.3 protein-coding 1344470 ASAH3 N-acylsphingosine amidohydrolase (alkaline ceramidase) 3 1580863 17713573,16477081,15489334,12783875,12477932,11915342 125981 NM_133492,AC011491,AC114268,CH471139,AF347024,BC112122,BC112124 NP_597999,EAW69104,EAW69105,AAL83822,AAI12123,AAI12125,Q8TDN7 Hs.352609 ACER1|MGC138327|MGC138329 protein-coding 1312176 ASAH3L N-acylsphingosine amidohydrolase 3-like 16940153,15498874,15489334,15164053,12477932 340485 NM_001010887,AL158206,AL391834,CH471071,AF370405,AK123581,AY312516,BC092487 NP_001010887,CAM21146,EAW58634,AAQ15241,AAQ85132,AAH92487,Q5QJU3 Hs.41379 ACER2|FLJ41587 protein-coding 1602686 ASAM adipocyte-specific adhesion molecule The CTX (see VSIG2, MIM 606011) family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion (Raschperger et al., 2004 [PubMed 14573622]).[supplied by OMIM] 17538635,15563274,14573622,12975309,12851705,12477932,12107410 79827 AP000926,AP001970,CH471065,CQ802458,AK026068,AY326422,AY358340,BC009371,BE272517,BG723094,BK001245,CA395814,CR622259,NM_024769 NP_079045,EAW67543,EAW67544,EAW67545,CAG28887,BAB15347,AAP88386,AAQ88706,AAH09371,DAA01139,Q9H6B4 Hs.591949,Hs.665354 ACAM|CLMP|FLJ22415 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1321850 ASB1 ankyrin repeat and SOCS box-containing 1 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. 1580863 11111040,15489334,12477932,12076535,11509662,10574461,9110174,8619474 51665 NM_001040445,AC016999,CH471063,AB032972,AF055024,AF156777,BC014528,CR625517 NP_001035535,AAX88934,EAW71158,EAW71159,BAA86460,AAD41894,AAH14528,Q9Y576 Hs.516788 GDB:11504475 ASB-1|KIAA1146|MGC11165 protein-coding 1353086 ASB10 ankyrin repeat and SOCS box-containing 10 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. 1580863 16325183,15489334,14702039,12690205,12076535 136371 NM_080871,AACC02000108,AC010973,CH471173,AF417920,AK055536,AK125565,BC126351 NP_543147,EAL24504,EAW54020,EAW54021,EAW54022,AAL59159,BAC86204,AAI26352,Q6ZUL6,Q8WXI3 Hs.647081 GDB:11505645 protein-coding 1344351 ASB11 ankyrin repeat and SOCS box-containing 11 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16893969,15489334,12477932,12076535 140456 BC069340,BC103873,BC103874,BC103875,BX537853,BX537857,NM_080873,NM_001012428,AC095351,CH471074,AF425642 AAH69340,AAI03875,AAI03876,CAD97861,CAD97864,Q7Z667,Q7Z670,Q8WXH4,NP_543149,NP_001012428,EAW98877,EAW98878,AAL60519 Hs.352183 GDB:11508903 DKFZp779E2460|MGC119168|MGC119169 protein-coding 1349928 ASB12 ankyrin repeat and SOCS box-containing 12 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. The SOCS box domain has not yet been annotated for this encoded protein. 1580863 15772651,15489334,14702039,12477932,12076535 142689 NM_130388,AL356317,CH471132,AF403030,AK096896,BC069436,BC069555,BC093883,BC104946 NP_569059,CAI39932,EAX05414,AAL57349,BAC04888,AAH69436,AAH69555,AAH93883,AAI04947,Q8WXK4 Hs.56281 FLJ39577 protein-coding 1321264 ASB13 ankyrin repeat and SOCS box-containing 13 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length sequences are not known. 1580863 16169070,16325183,16189514,15489334,15164054,14702039,12477932,12076535 79754 NM_024701,AL365356,CH471072,AF403031,AK023196,AK091935,AK292071,BC012056,CR457302,CR612381,CR621326 NP_078977,CAH72614,EAW86435,EAW86438,EAW86436,EAW86439,EAW86437,AAL57350,BAB14456,BAF84760,AAH12056,CAG33583,Q8WXK3 Hs.445899 FLJ13134|MGC19879 protein-coding 1343044 ASB14 ankyrin repeat and SOCS box-containing 14 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length sequences are not known. 1580863 16325183,12477932,12076535 142686 NM_130387,AC093928,CH471055,AF403032,AL832472,BC114953 NP_569058,EAW65337,EAW65338,AAL57351,AAI14954,Q1RMF3,Q8WXK2 Hs.665154,Hs.703052 DKFZp313L0121 protein-coding 1346506 ASB15 ankyrin repeat and SOCS box-containing 15 1580863 17672918,16325183,16012773,14702039,12477932,12076535 142685 NM_080928,AC006333,CH236947,CH471070,AF403033,AF428257,AK125360,BC100874,BC100875,BC100876,BC100877,CR749595 NP_563616,AAQ96857,EAW83594,EAW83595,EAW83596,AAL57352,AAP97297,BAC86146,AAI00875,AAI00876,AAI00877,AAI00878,CAH18393,Q3ZCP3,Q3ZCP5,Q68D37,Q7Z4V1,Q8WXK1,AAI66689 Hs.83916 DKFZp779M1258|FLJ43370 protein-coding 1313384 ASB16 ankyrin repeat and SOCS box-containing 16 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. 1580863 16325183,15489334,14702039,12477932,12076535 92591 NM_080863,AC004596,CH471178,AF403034,AK054727,AY557346,BC075088,BC118584,BC118585 NP_543139,EAW51627,EAW51628,AAL57353,BAB70800,AAS67920,AAH75088,AAI18585,AAI18586,Q147X6,Q6Q622,Q96NS5 Hs.534517 FLJ30165|MGC141876|MGC141877 protein-coding 1343895 ASB17 ankyrin repeat and SOCS box-containing 17 1580863 16325183,15489334,15204681,14702039,12477932,12076535 127247 NM_080868,AC092813,AL445464,CH471059,AF403035,AF429968,AK098606,BC022517,BC036573 NP_543144,EAX06391,AAL57354,AAN85310,BAC05350,AAH22517,AAH36573,Q4G1B1,Q5VVS5,Q8WXJ9 Hs.125423 Asb-17 protein-coding 1602398 ASB18 ankyrin repeat and SOCS box-containing 18 16325183,12076535 401036 Q6ZVZ8 NM_212556,AC019068,AC079135,AK123854 NP_997721,BAC85710,Q6ZVZ8 Hs.531288 ASB-18 protein-coding 1315012 ASB2 ankyrin repeat and SOCS box-containing 2 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. This gene is induced by all-trans retinoic acid. In myeloid leukemia cells, the expression of this encoded protein has been shown to induce growth inhibition and chromatin condensation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. 1580863 15014966,14702039,12477932,12076535,11682484,11566180,11509662,11111040,9419338,16189514,16325183,15590664,15489334,15231748 51676 NM_016150,AL079302,AL132642,CH471061,AB056723,AF159164,AJ251238,AK002049,AK057078,AK093271,AL137735,BC032354 NP_057234,EAW81540,EAW81541,EAW81542,EAW81543,BAB64532,AAD45345,CAC17765,CAB70899,AAH32354,Q96Q27,ABM82256,ABM85439 Hs.510327 GDB:11504477 ASB-2|MGC40044 protein-coding 1318243 ASB3 ankyrin repeat and SOCS box-containing 3 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. 15899873,15489334,14702039,12477932,12076535,11509662,11111040,9373149,8125298,17353931 51130 NM_145863,NM_016115,AC007883,AC008064,CH471053,AB209795,AF156778,AK001283,AK056069,AK222595,AK222715,BC006488,BC009569,BC110915,CR590535,AK000985 NP_665862,NP_057199,AAY24350,AAX93180,EAX00167,EAX00168,EAX00169,EAX00170,EAX00171,BAD93032,AAD41895,BAA91599,BAD96315,BAD96435,AAH06488,AAH09569,AAI10916,Q2TAI4,Q53H66,Q53HI5,Q53TN0,Q53TN8,Q59EL6,Q9Y575,ABM84179,ABM87581,BAA91455 Hs.40763 GDB:11504479 ASB-3|FLJ10123|FLJ10421|MGC12531|MGC132002|MGC996 protein-coding 1348810 ASB4 ankyrin repeat and SOCS box-containing 4 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. 1580863 15929745,12853948,12690205,12477932,12076535,11111040,11076863 51666 NM_016116,NM_145872,AC003079,CH236949,CH471091,AF156779,BC025024,BC113479,BC113481 NP_057200,NP_665879,AAB83943,EAL24129,EAL24130,EAW76760,EAW76761,EAW76762,AAD41896,AAH25024,AAI13480,AAI13482,Q14D68,Q8TBT2,Q9Y574,AAI11595 Hs.666357 GDB:11504481 ASB-4|MGC142039|MGC142041 protein-coding 1352084 ASB5 ankyrin repeat and SOCS box-containing 5 The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. 1580863 15489334,14702039,12477932,12076535 140458 NM_080874,AC019163,AC093605,CH471056,AK096441,AK098693,AY057053,BC065710,BX647857 NP_543150,EAX04720,BAC04791,BAC05382,AAL18248,AAH65710,CAI46074,Q5HYF3,Q8N7B5,Q8WWX0 Hs.591712 GDB:11505647 protein-coding 1318216 ASB6 ankyrin repeat and SOCS box-containing 6 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. 15489334,15231829,14702039,12477932,12076535,9373149,8125298 140459 BC065913,BX648923,CR627462,NM_177999,NM_017873,AL590369,CH471090,AK000555,AK023004,AK093539,AK225618,AK292807,AL390135,BC001719 AAH01719,AAH65913,CAH10563,Q5SZB7,Q6AW82,Q9BV15,Q9NWX5,NP_821066,NP_060343,CAI14509,CAI14510,EAW87896,EAW87897,EAW87898,EAW87899,EAW87900,BAA91250,BAB14355,BAF85496 Hs.125037 GDB:11508899 FLJ20548|MGC1024 protein-coding 1313017 ASB7 ankyrin repeat and SOCS box-containing 7 The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. 14702039,12477932,12076535,9373149,8125298 140460 NM_198243,NM_024708,AC090695,CH471101,AF451994,AK000966,AK026204,AK094123,AK222958,AK222974,AK289860,BC025252,BC063581,BQ933001 NP_937886,NP_078984,EAX02274,EAX02275,EAX02276,EAX02277,AAP97683,BAB15392,BAD96678,BAD96694,BAF82549,AAH63581,Q53GF7,Q6GSJ6,Q9H672 Hs.31845 GDB:11508900 FLJ22551 protein-coding 1319481 ASB8 ankyrin repeat and SOCS box-containing 8 1580863 15489334,14702039,12559969,12477932,12076535,16189514 140461 NM_024095,AC074029,CH471111,AF464877,AK024908,AK125596,AK289957,BC001321,BM837218,BQ009637,CR457336 NP_077000,EAW57976,AAQ04830,BAB15033,BAC86214,BAF82646,AAH01321,CAG33617,Q6IA19,Q6ZUK8,Q9H765 Hs.432699 GDB:11508901 FLJ21255|MGC5540|PP14212 protein-coding 1344669 ASB9 ankyrin repeat and SOCS box-containing 9 1580863 16189514,15489334,14702039,12477932,12076535 140462 NM_001031739,NM_024087,AC095351,CH471074,AK000643,AK292270,AL080091,AY337578,BC001244,BC013172 NP_001026909,NP_076992,EAW98870,EAW98871,EAW98872,EAW98873,EAW98874,EAW98875,EAW98876,BAA91302,BAF84959,CAB45706,AAQ17469,AAH01244,AAH13172,Q7Z4A2,Q96DX5,Q9BVF5 Hs.19404 GDB:11508902 DKFZp564L0862|FLJ20636|MGC4954 protein-coding 1350086 ASCC1 activating signal cointegrator 1 complex subunit 1 1580863 15489334,14702039,12477932,12077347,10810093,10567404 51008 NM_015947,AC022392,AL607035,CH471083,AA805081,AF132952,AK023436,AK094170,AK096409,AK124364,AL359339,AY013290,BC012291,CR602037,CR604423,CR619307,CR619850,CR624504 NP_057031,CAI15907,CAI15908,EAW54444,EAW54445,EAW54446,EAW54447,AAD27727,BAC04299,AAG45476,AAH12291,Q5SW06,Q5SW07,Q8N9N2 Hs.500007 ASC1p50|CGI-18|RP11-150D20.4 protein-coding 1347917 ASCC2 activating signal cointegrator 1 complex subunit 2 16169070,15489334,15231748,14702039,12477932,12077347,10591208,9847074,9373149,8125298,16009131 84164 NM_032204,AC004882,CH471095,Z82171,AK022886,AK025241,AK222723,AK223033,AL096741,AY013289,BC025368,BC032760,CR593980,CR601965,CR602059,CR622774,CR623602 NP_115580,EAW59842,EAW59843,EAW59844,EAW59845,EAW59846,EAW59847,EAW59848,CAI95602,BAB14293,BAB15089,BAD96443,BAD96753,CAH56409,AAG45475,AAH25368,Q53G98,Q53H58,Q659F6,Q9H1I8 Hs.517438 ASC1p100 protein-coding 1344771 ASCC3 activating signal cointegrator 1 complex subunit 3 1580863 11256614,16381901,15489336,15146197,14702039,12477932,12077347,11230166,11076863,10218103 10973 NM_006828,NM_022091,AL121965,AL133338,AL356122,AL513207,AL591585,CH471051,Z86062,AI803859,AJ223948,AK023189,AL834463,AY013288,BC014358,BC026066,BC039857,BC050681,BC125211,BC125212,BC130038,CN255848 NP_006819,NP_071374,CAI19627,CAC07337,CAI21439,CAI16190,EAW48449,EAW48450,CAI19454,CAA11679,CAD39122,AAG45474,AAH26066,AAH50681,AAI25212,AAI25213,Q4G1A0,Q8N3C0,Q9H5A2,CAL38260,AAI50216 Hs.486031 ASC1p200|DJ467N11.1|HELIC1|MGC26074|RNAH|dJ121G13.4 protein-coding 1351534 ASCC3L1 activating signal cointegrator 1 complex subunit 3-like 1 1580863 9539711,9774689,17353931,8670905,12226669,17081983,16730941,16723661,16565220,15635413,15489334,15324660,15302935,15175327,14702039,12477932,12421765,12403470,12168954,11991638,11790298,11331595,9872452,8600454,15146077 23020 NM_014014,AC021188,CH471207,Z70200,AB018331,AF085356,AF119874,AJ844618,AK021418,AK023840,AK024391,AK026662,AK090671,AL831994,AW190145,AY572488,BC001417,BC007577,BC065924,BC112891,BC131784,CR607113,CR610844,CR614576 Q9P172,Q9UNV9,Q9H8B9,NP_054733,EAW71372,EAW71373,CAA94089,BAA34508,AAD40191,AAF69628,CAH59741,BAB14698,BAB14906,BAC03499,AAS78571,AAH01417,AAH07577,AAH65924,AAI12892,AAI31785,O75643,Q5ZF01,Q6NZY0,Q7L5W4 Hs.246112 BRR2|HELIC2|U5-200KD protein-coding 736393 ASCL1 achaete-scute complex homolog 1 (Drosophila) This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. It is highly expressed in medullary thyroid cancer and small cell lung cancer and may be a useful marker for these cancers. The presence of a CAG repeat in the gene suggests that it may also play a role in tumor formation. 1300289,1580863 15489334,15272537,15240857,14759067,14668716,14532329,12477932,12050665,11948117,11940670,11825874,11309412,11171979,10656681,9197246,9186001,9126746,8662987,8595908,11564735,10903890,8390674,18339843,17923682,17507989,16899352,16103883,16029117,16021468,15701827 1300289 429 NM_004316,AC026108,CH471054,AK290539,BC001638,BC002341,BC003134,BC004425,BC031299,CF454566,CR615179,L08424 NP_004307,EAW97703,BAF83228,AAH02341,AAH03134,AAH04425,AAH31299,AAA58376,P50553,ABM85497,ABW03754 Hs.707985 GDB:203985,GDB:581848 ASH1|HASH1|MASH1 achaete-scute complex homolog-like 1 (drosophila) protein-coding 735625 ASCL2 achaete-scute complex homolog 2 (Drosophila) This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. 1580863 8751384,17165436,14561729,12917334,16568095,12477932,12099555,11440538,10757985,9610003,9175731,12670868,12482968 430 NM_005170,AC129929,AF442769,S82817,U77629,BC028140,BC057801,BC136561,BC136567,CR603858 NP_005161,AAL35362,AAB39362,AAB86993,AAH57801,AAI36562,AAI36568,Q6PEY9,Q99929 Hs.152475 GDB:1220264 ASH2|HASH2|MASH2 achaete-scute complex homolog-like 2 (drosophila) protein-coding 1315779 ASCL3 achaete-scute complex homolog 3 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM] 1580863 15475265,11784080,11528127 56676 NM_020646,AB046450,AC026894,AJ400877,CH471064 NP_065697,BAB83913,CAB92288,EAW68610,Q9NQ33,AAI41566,AAI46583 Hs.501852 GDB:10796779 HASH3|SGN1 protein-coding 1316784 ASCL4 achaete-scute complex homolog 4 (Drosophila) Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM] 15475265,14516699,12617822 121549 NM_203436,AC007622,AY238895,BC128211,BC128212,BK000275 NP_982260,AAP69222,AAI28212,AAI28213,DAA01055,Q6XD76 Hs.149910 HASH4 achaete-scute complex-like 4 (drosophila) protein-coding 1603722 ASCL5 achaete-scute complex homolog 5 (Drosophila) 647219 XM_001719321,XM_001132976,XM_940966,XM_001718227,AL139159 XP_001719373,XP_001132976,XP_946059,XP_001718279,Q7RTU5 protein-coding 1351055 ASD1 atrial septal defect 1 9610535 431 GDB:6276019 1323657 ASF1A ASF1 anti-silencing function 1 homolog A (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. 10759893,11897662,18096807,17328667,17293877,17292837,17054786,16980972,16344560,15840725,15664198,15621527,15213445,14718166,12842904,12477932,12093919,11470414,11230166,11042152,10810093,16189514 25842 AL132874,CH471051,AA481056,NM_014034,AB028628,AF151856,AF161495,AF279306,AK025738,AL050261,BC010878,CR457347,CR610395,DA902777 NP_054753,CAI42605,EAW48193,BAA96542,AAD34093,AAF29110,AAK82972,BAB15228,CAB43363,AAH10878,CAG33628,Q5JW33,Q9Y294 Hs.292316 CGI-98|CIA|DKFZP547E2110|HSPC146 protein-coding 1312634 ASF1B ASF1 anti-silencing function 1 homolog B (S. cerevisiae) This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. 17353931,18096807,17328667,17054786,15664198,15146197,15020040,14702039,12842904,12477932,11897662,11470414,9373149,8125298 55723 AC022098,CH471106,AB104486,AF279307,AK001288,AK001466,AK223080,BC007726,BC010014,BC036521,CN426445,CR457235,NM_018154,CR594548,CR598409,CR600762,CR601959,CR602589,CR604970,CR605712,CR606144,CR607121,CR608925,CR609105,CR616124,CR617345,CR617558,CR621931,CR622222,CR622368,CR624719 NP_060624,EAW84401,EAW84402,BAC87709,AAK82973,BAA91602,BAA91708,BAD96800,AAH07726,AAH10014,AAH36521,CAG33516,Q9NVP2 Hs.26516 CIA-II|FLJ10604 protein-coding 737103 ASGR1 asialoglycoprotein receptor 1 Partially deglycosylated plasma glycoproteins and immunoglobulin IgA2 allotypes are efficiently and specifically removed from circulation by a receptor-mediated process. The asialoglycoprotein receptor binds to desialylated (galactosyl-terminal) glycoproteins. It transports these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting organelle where the receptor and ligand dissociate. Then the receptor is recycled back to the cell surface and the ligand is transported to the lysosomes for degradation. 1580863 8439566,11543633,10734069,15489334,2834401,1935897,1774077,16008586,12477932,12477859,12370180,12359251,12171918,12167617,12119473,11943787,10891274,10859341,3753585,3234178,2982798 432 NM_001671,AC120057,CH471108,AB070933,AK124286,AK308375,BC032130,BQ653541,BT019873,CR542052,M10058 NP_001662,EAW90256,EAW90257,EAW90258,BAB83508,BAC85828,AAH32130,AAV38676,CAG46849,AAA51785,P07306,Q6FGQ5,Q6ZVN3,ABM82956,ABM86147 Hs.12056 GDB:118754 ASGPR|CLEC4H1|Hs.12056 protein-coding 1343618 ASGR2 asialoglycoprotein receptor 2 This cell surface receptor binds to galactose-terminated glycoproteins. It transports these glycoproteins via a series of membrane vesicles and tubules to an acidic-sorting organelle where the receptor and ligand dissociates. Then the receptor is recycled back to the cell surface. There are four alternatively spliced transcript variants of this gene. 1580863 3863106,11543633,16335952,15946216,15489334,12477932,12171918,12167617,12119473,12089159,11943787,8397210,7843709,3234178,2834401,1924301,1597447,1371982,16189514 433 NM_080912,NM_001181,NM_080913,NM_080914,AC120057,CH471108,AF529374,BC017251,BX483468,CR594935,DC315727,M11025,U97197,X55283,X55284 NP_550434,NP_001172,NP_550435,NP_550436,EAW90259,EAW90260,EAW90261,EAW90262,EAW90263,EAW90264,AAQ09608,AAH17251,AAB59519,AAB58308,CAA38997,P07307,Q7Z4G9,ABM83578,ABM86817 Hs.654440 GDB:118755 ASGP-R|CLEC4H2|Hs.1259|L-H2 protein-coding 1314918 ASH1L ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. 1580863 10860993,17923682,17203973,16710414,16545939,16344560,15231748,15146197,10718198 55870 NM_018489,AL139410,AL353807,CH471121,AB037841,AB209068,AF257305,AI912552,BQ883186,CN365042,DA236222 NP_060959,CAI12716,CAI12722,CAI13211,CAI13212,EAW53068,BAA92658,BAD92305,AAF68983,Q9NR48 Hs.491060 ASH1|ASH1L1|FLJ10504|KIAA1420|KMT2H protein-coding 1313775 ASH2L ash2 (absent, small, or homeotic)-like (Drosophila) 1580863 10393421,12670868,11466562,14992727,15199122,18245475,16892064,16189514,15761153,15489334,15231748,12482968,12477932 9070 NM_001105214,AB022785,AC084024,AP006545,CH471080,AB020982,AF056717,AF056718,AK291750,AK291938,AW962440,BC015936,CA417078,CR595873,CR602034,NM_004674,DC326351,DC353644,DC396707 NP_004665,NP_001098684,BAA74520,EAW63336,EAW63337,EAW63338,EAW63339,EAW63340,BAA35127,AAC13563,AAC13564,BAF84439,BAF84627,AAH15936,Q9UBL3 Hs.521530 GDB:9954831 ASH2|ASH2L1|ASH2L2|Bre2 protein-coding 1343075 ASH2LP1 ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1 9074928 266703 NG_000002,D87009 GDB:11510738 pseudo 69199 ASIP agouti signaling protein, nonagouti homolog (mouse) In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. 1625724,1580863 7757071,7937887,18488027,17952075,17525122,16704456,16091846,15998953,15726415,15701517,15489334,15016309,14633851,12519127,12477932,12055320,11833005,11780052,11447115,9761782,9058374 1625724 434 NM_001672,AL035458,CH471077,L37019,U12775,BC104238,BC104239 NP_001663,CAB96679,EAW76282,AAA89208,AAB61247,AAI04239,AAI04240,P42127 Hs.659995 GDB:392697 AGSW|AGTI|AGTIL|ASP|MGC126092|MGC126093|SHEP9 agouti (mouse)-signaling protein 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H protein-coding 731559 ASL argininosuccinate lyase This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. 1599263,1302509,1599265,734610,1599267,1580863,1300048 282632,17326097,16189514,15489334,12512996,12477932,12408190,12384776,11747433,11747432,9256435,6784763,3463959,3391281,3368457,2644168,2263616,2045097,1705937 1599263,1302509,1599265,734610,1599267 435 M21007,AI469765,AY203938,BC008195,BC033146,BQ949510,BU634268,BX328836,CR591306,CR591307,CR596097,CR596171,CR603567,CR603715,CR607016,CR608069,CR612547,CR613134,CR618289,CR618306,CR618960,CR619001,CR619700,CR626571,J03058,M14218,M57638,NM_000048,NM_001024943,NM_001024944,NM_001024946,AC068533,AF376770,CH236961,CH471140,Y00753 EAX07944,EAX07945,EAX07946,AAA35566,AAP34461,AAH08195,AAH33146,AAA51787,AAA51786,AAA51788,NP_000039,NP_001020114,NP_001020115,NP_001020117,AAL57276,CAA68722,P04424,Q6XYD2 Hs.632015 GDB:119703 ASAL protein-coding 1352939 ASLL argininosuccinate lyase-like 436 NG_002637,AP000346 GDB:119704 pseudo 1350953 ASMD anterior segment mesenchymal dysgenesis 437 GDB:119705 1353638 ASMT acetylserotonin O-methyltransferase 1580863 8397829,17957233,17505466,15772651,15489334,12734775,12477932,11339514,8098975,7989373,1878930 438 NM_004043,AL683807,CH471074,U11098,BC001620,M83779,U11090,U11091 NP_004034,EAW98685,EAW98686,AAA75289,AAA75290,AAA75291,AAH01620,AAA17020,AAA58582,AAA58583,P46597,Q5JQ71 Hs.522572 GDB:136259 ASMTY|HIOMT|HIOMTY protein-coding 1315744 ASMTL acetylserotonin O-methyltransferase-like 1580863 9736779,17081983,16344560,16189514,15489334,14702039,12477932,9373149,8889548,8125298 8623 NM_004192,XM_001713702,AL683870,CH471074,Y15521,AK001090,AK090498,AK225770,BC002508,BC010089,BM021926,BM129217,BU688748,CR602244,CR605489,CR622364,DA005122,DA301876 NP_004183,XP_001713754,EAW98682,CAA75675,CAA75676,BAC03468,AAH02508,AAH10089,O95671,Q5JQ52 Hs.533514 GDB:9956043 ASMTLX|ASMTLY|ASTML protein-coding 1317371 ASNA1 arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) ASNA1 is the human homolog of the bacterial arsA gene. In E. coli, ArsA ATPase is the catalytic component of a multisubunit oxyanion pump that is responsible for resistance to arsenicals and antimonials.[supplied by OMIM] 1580863 8884272,9736449,17289575,12477932,10696239,9712828,9373149 439 O43681,Q53FC6 NM_004317,AC018761,AY304483,CH471106,AF047469,AK223363,BC002651,BG426136,CR596298,CR600502,CR604808,CR608428,CR609325,CR614440,CR615804,CR616471,U60276 NP_004308,AAP45050,EAW84303,AAC03551,BAD97083,AAH02651,AAC50731,O43681,Q53FC6 Hs.465985 GDB:6279008 ARSA-I|ARSA1|MGC3821 protein-coding 1343754 ASNS asparagine synthetase The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. There are three alternatively spliced transcript variants encoding the same protein described for this gene. 1580863 17380207,17276738,16598302,16344560,15674423,15489334,15385533,12949534,12853948,12690205,12477932,12351626,12097650,11960987,11867623,9847074,8093451,7904551,2564390,2569668,2886907,16023613,10085239,17409444,6137879,3470743,2714790,2573597,2565875 440 BT007113,BX104871,CR600992,CR603522,CR607694,DA661624,DA961373,DC297828,M15798,M27396,NM_183356,NM_133436,NM_001673,AC005326,AC079781,CH236949,CH471091,L35946,M27054,AK000379,BC008723,BC014621,BC030024,BG718826 AAP35777,AAA36781,AAA51789,P08243,NP_899199,NP_597680,NP_001664,AAQ96856,EAL24115,EAW76723,EAW76730,EAW76731,EAW76732,EAW76733,AAA52756,AAA63266,AAH08723,AAH14621,ABM83944,ABM87262 Hs.489207 GDB:119706 TS11 protein-coding 1603641 ASNSD1 asparagine synthetase domain containing 1 16534843,12477932 54529 NM_019048,AC012488,CH471058,AB075481,AK000759,AY116969,BC001243,CR594310,CR594492,CR621025,CR621606 NP_061921,AAX88843,EAX10898,EAX10899,EAX10900,BAE45745,BAA91364,AAM77212,AAH01243,Q9NWL6 Hs.101364 FLJ20752|NBLA00058|NS3TP1 protein-coding 1346746 ASNSL1 asparagine synthetase-like 1 389652 NG_007178,AC093368,AC104576 GDB:119707 pseudo 1352956 ASNSL2 asparagine synthetase-like 2 442 GDB:119708 1350952 ASPA aspartoacylase (Canavan disease) This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. 1599291,1599298,1601247,1580863 8252036,18293939,18264947,17391648,17194761,17027983,16935940,16669630,16437572,16189514,15489334,14699612,12706335,12638939,12477932,12205125,10909858,10837925,10564886,9407392,8088831,8023850,7668285,7599639,3116332,27051,8659549 1599291,1599298,1601247 443 NM_000049,AC025125,CH471108,S74727,BC010941,BC029128,CR541908,S67156 NP_000040,EAW90506,EAW90507,AAD14981,AAH29128,CAG46706,AAB29190,P45381,Q6FH48,Q7Z6N0,ABM83005,ABM86198 Hs.171142 GDB:231014 ACY2|ASP aspartoacylase (aminoacylase 2, canavan disease) protein-coding 1323751 ASPH aspartate beta-hydroxylase This gene is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor-like domains of various proteins. 1580863 11007777,7821814,10974562,18288418,17156427,17020779,16949909,16673309,16564107,16341145,16154531,15302935,15302852,12713872,12477932,12130746,12118090,11069905,10956665,10767180,9287354,8823296 444 NM_004318,NM_032468,NM_032466,NM_032467,NM_020164,AC067881,AC090094,CH471068,AF184241,AF224468,AF224469,AF289489,AF306765,AK291836,BC015518,BC025236,BC066929,BC142967,BI793083,BM785890,CA420254,CB115846,CB122028,CR600401,CR614279,N83868,S83325,U03109 NP_004309,NP_115857,NP_115855,NP_115856,NP_064549,EAW86840,EAW86841,EAW86842,EAW86843,EAW86844,EAW86845,EAW86846,EAW86847,EAW86848,EAW86849,AAG16983,AAF82246,AAF82247,AAG40811,AAG42257,BAF84525,AAH25236,AAH66929,AAI42968,AAB50779,AAA82108,Q12797,Q6PJH4,Q8TB28,AAH15518,Q9H291,Q9H2C4,Q9NRI0,Q9NRI1,AAI66658 Hs.622998 GDB:454147 BAH|CASQ2BP1|HAAH|JCTN|junctin protein-coding 1605839 ASPHD1 aspartate beta-hydroxylase domain containing 1 15489334,12477932,9110174,8619474 253982 NM_181718,AC120114,CH471238,AF070642,BC009033,BC029136,BC034275,BC040933,BC085011,BC126319,BC126321,BU193236 NP_859069,EAW79971,EAW79972,AAH09033,AAH29136,AAH40933,AAH85011,AAI26320,AAI26322,A0AVE3,Q5U4P2 Hs.655761 protein-coding 1601744 ASPHD2 aspartate beta-hydroxylase domain containing 2 15489334,15461802,14702039,12477932,10591208 57168 NM_020437,CH471095,Z99714,AK097157,AL161993,BC036753,CR456391,CR603469 NP_065170,EAW59715,EAW59716,CAI17879,CAB82325,AAH36753,CAG30277,Q6ICH7,CAK54397,CAK54696 Hs.567547 FLJ39838 protein-coding 1316111 ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila) The ASPM gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts (Bond et al., 2002 [PubMed 12355089]). The mouse gene Aspm is expressed specifically in the primary sites of prenatal cerebral cortical neurogenesis.[supplied by OMIM] 1599300,1580863 18331833,18204051,17849285,17604569,17566767,17534152,17251122,17220170,17090670,17081983,16687438,16565220,16151010,16141009,16123590,15972725,15489334,15355437,15045028,14704186,14702039,14574646,12571366,12477932,12355089,11283617,11078481 1599300 259266 NM_018136,AL353809,CH471067,AF509326,AK001379,AK001380,AK095892,AK125107,AK226178,AY099890,AY099891,AY099892,AY099893,AY101201,AY367065,AY971955,AY971956,AY971957,BC015396,BC034607,BC040439,BF970006,BX648804,AK001411 NP_060606,CAH72550,CAH72552,EAW91270,EAW91271,EAW91272,EAW91273,EAW91274,AAN40011,BAA91660,BAA91676,AAM44119,AAM44120,AAM44121,AAM44122,AAM48745,AAR12641,AAY46813,AAY46814,AAY46815,AAH15396,AAH34607,Q4G1H0,Q4G1H1,Q4G1H2,Q5VYL3,Q5VYL4,Q8IZT6 Hs.121028 GDB:11509996 ASP|Calmbp1|DKFZp686N06184|FLJ10517|FLJ10549|FLJ43117|MCPH5 asp (abnormal spindle)-like, microcephaly associated (drosophila) protein-coding 1345823 ASPN asporin ASPN belongs to a family of leucine-rich repeat (LRR) proteins associated with the cartilage matrix. The name asporin reflects the unique aspartate-rich N terminus and the overall similarity to decorin (MIM 125255) (Lorenzo et al., 2001 [PubMed 11152692]).[supplied by OMIM] 1580863 18452398,18434216,18304494,18178444,17827158,17804408,17603749,17517696,17195216,17024313,16707531,16632759,16542493,16255042,15640800,14702039,12975309,12477932,11587855,11152695,11152692 54829 NM_017680,AL137848,CH471089,AF316824,AK000136,AK027359,AK172737,AY029191,AY358329,BC022059,BC063114,CD110559 NP_060150,CAI16697,CAI16698,EAW62822,EAW62823,AAK35161,BAA90967,BAB55060,AAK31800,AAQ88695,AAH22059,AAH63114,Q05CQ6,Q5TBF2,Q5TBF3,Q6P528,Q9BXN1 Hs.435655 GDB:11505649 FLJ20129|PLAP1|SLRR1C asporin (lrr class 1) protein-coding 1604987 ASPRV1 aspartic peptidase, retroviral-like 1 16098038,16565508,15815621,15489334,14702039,12477932 151516 CH471053,AK055994,AK057813,BC031997,BC094000,BC094002,NM_152792,AC079811 AAY24017,EAW99836,BAB71067,BAB71587,AAH31997,AAH94000,AAH94002,Q53RT3,NP_690005 Hs.556025 MUNO|SASP|SASPase|Taps protein-coding 1344232 ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that this gene is fused with transcription factor TFE3 gene in ASPS and also in renal cell carcinomas. Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined. 18176180,17081983,15489334,14702039,14562105,12477932,11438465,11358836,11244503,10506710 79058 AC137723,CH471099,AF324219,AK057403,AK057851,AK090682,AK126967,AK127159,AK226086,AK290624,BC006152,BC018722,CR590197,CR613127,CR616428,CR619809,CR620803,NM_024083,CR622246,CR624042 NP_076988,EAW89731,AAK08959,BAB71472,BAB71595,BAC86768,BAC86861,BAF83313,AAH06152,AAH18722,Q6ZST5,Q6ZT27,Q9BZE9,ABM83448,ABM86660 Hs.298351 GDB:11499912 ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9 protein-coding 1343525 ASRGL1 asparaginase like 1 17213182,16344560,15342556,14702039,12477932,11984834,9373149,8125298 80150 NM_001083926,NM_025080,AP003064,AP003306,CH471076,AF411076,AK090908,AK091894,AK225802,BC006267,BC021295,BC064963,BC093070,BP308677,CR617167,CR620676,DA159051,DT220454 NP_001077395,NP_079356,EAW74012,EAW74013,EAW74014,EAW74015,EAW74016,EAW74017,AAM28434,AAH06267,AAH21295,AAH64963,AAH93070,Q7L266,Q9BRH2 Hs.535326 GDB:11508859 ALP|ALP1|FLJ22316 protein-coding 736136 ASS1 argininosuccinate synthetase 1 The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. 1599301,1599263,1599267,1599305,1599310,1599265,1300048 12815590,12477932,11941481,11708871,11606680,11464474,9150948,8895530,8792870,7977368,7557970,6321498,6095035,3513483,3027451,2788888,1943692,1372742,1312326,891260,852520,12620389,2358466,6194510,17354225,17096330,16703398,16380201,16189514,16169070,16124451,15489334,15192091,14702039,14570901 1599301,1599263,1599267,1599305,1599310,1599265 445 NM_000050,NM_054012,AF363662,AL354898,AY034076,CH471090,L00081,L00084,M34903,AK027126,AK293114,AW672752,BC009243,BC013224,BC021676,BE207182,BE794559,BF305325,BI603075,BX403885,CR591395,CR592094,CR595936,CR597457,CR598119,CR598476,CR601739,CR604563,CR605717,CR605897,CR606149,CR606338,CR607007,CR608372,CR609148,CR612736,CR613193,CR615955,CR616527,CR616967,CR619067,CR620347,CR625815,DB496935,X01630,Z36810 NP_000041,NP_446464,AAM60751,CAI16158,CAI16159,CAI16160,CAI16161,AAK67487,EAW87932,EAW87933,EAW87934,EAW87935,EAW87936,AAA51783,AAA51782,BAF85803,AAH09243,AAH21676,CAA25771,P00966,Q5T6L4,Q5T6L5,Q5T6L6,Q8NFZ7 Hs.160786 GDB:119010 ASS|CTLN1 arginosuccinate synthetase protein-coding 1350105 ASSP1 argininosuccinate synthetase pseudogene 1 6321498,6093508,1440058 446 NG_001077,K01845 GDB:119011 pseudo 1348690 ASSP10 argininosuccinate synthetase pseudogene 10 6093508,2435915 455 NG_003021,AC132803 GDB:119012 pseudo 1345984 ASSP11 argininosuccinate synthetase pseudogene 11 456,6093508 456 AC078791 GDB:119013 pseudo 1344256 ASSP12 argininosuccinate synthetase pseudogene 12 6093508 392302 NG_005207,AL353717 GDB:119014 pseudo 1353562 ASSP13 argininosuccinate synthetase pseudogene 13 6093508 458 AP003057 GDB:119015 pseudo 1351034 ASSP14 argininosuccinate synthetase pseudogene 14 6093508 459 XR_017344,XR_019211,NG_005633,AC087311 Hs.646553 GDB:119016 pseudo 1354180 ASSP2 argininosuccinate synthetase pseudogene 2 9847074,6093508 447 NG_000845,AC018693,AC092833 GDB:119017 pseudo 1353180 ASSP3 argininosuccinate synthetase pseudogene 3 6321498,6093508 448 NG_001078,K01846 GDB:119709 pseudo 1345150 ASSP4 argininosuccinate synthetase pseudogene 4 6093508 449 NG_000846,AC004616 GDB:119018 pseudo 1346261 ASSP5 argininosuccinate synthetase pseudogene 5 6093508 450 NG_000847,AC005000 GDB:119019 pseudo 1349533 ASSP6 argininosuccinate synthetase pseudogene 6 12815422,9847074,6093508,2822495 451 NG_000848,AC012502 GDB:119020 pseudo 1602905 ASSP7 argininosuccinate synthetase pseudogene 7 6321498,6093508 452 K01847,K01848,K01849 GDB:119021 pseudo 1345680 ASSP8 argininosuccinate synthetase pseudogene 8 9847074,6093508,2435915 453 NG_003009,AC093881 GDB:119022 pseudo 1348330 ASSP9 argininosuccinate synthetase pseudogene 9 6093508,2435915,454 454 NG_003022,AC025175 GDB:119023 pseudo 1606299 ASTE1 asteroid homolog 1 (Drosophila) 14702039,12477932 28990 NM_014065,NG_007379,AC055733,CH471052,AF113539,AK027258,AK027806,BC030274,BC069265,BC103709,BC110616 NP_054784,EAW79214,EAW79215,EAW79216,AAF14876,BAB55383,AAH30274,AAI03710,AAI10617,Q2TB18 Hs.100878 HT001|MGC129980 protein-coding 1349169 ASTL astacin-like metallo-endopeptidase (M12 family) 1580863 15087446,12477932 431705 AC012307,CH471207,AJ537600,BC107126,BC107127,NM_001002036 Q3B826,Q3KNT0,Q6HA08,EAW71389,CAD61265,AAI07127,AAI07128,NP_001002036 Hs.447993 MGC129843 astacin-like metalloendopeptidase (m12 family) protein-coding 1602904 ASTN1 astrotactin 1 16710414,16344560,12477932,9179496,9070947,8889548,3276720 460 NM_004319,NM_207108,AL021398,AL022145,AL031290,AL136983,CH471067,AB006627,AU132309,BC015438,BC032870,BC049377,BC064147,BC142697,BC146795,BM722747,BU620695 NP_004310,NP_996991,CAI23462,CAI23463,CAI23464,CAI20554,CAI20555,CAI20556,CAI20557,CAI22717,CAI22718,CAI22719,CAI22720,CAH71677,CAH71678,CAH71679,EAW91005,EAW91006,EAW91008,BAA22958,AAH15438,AAI42698,Q96BL7,EAW91007,AAI46796,O14525,Q5THD7,Q5TI51,Q5W0V9 Hs.495897 GDB:3789392 ASTN|KIAA1747 protein-coding 1314130 ASTN2 astrotactin 2 14702039,12477932,9734811 23245 NM_014010,NM_198187,NM_198186,NM_198188,AL133282,AL133284,AL137024,AL157829,AL354981,AL355608,AL358792,AL392085,AL669963,CH471090,AB014534,AF116574,AK024064,AK127350,BC010680,BC018759,BC029272,BC093835,BC101667,BC146756,BM552790,BX648673,BX649176,CR618241 NP_054729,NP_937830,NP_937829,NP_937831,CAI16369,CAI16370,CAI16371,CAH72264,EAW87444,BAA31609,AAF14357,AAH10680,AAH18759,AAH29272,AAH93835,AAI01668,AAI46757,O75129,Q5TBS6 Hs.653266 GDB:9955417 KIAA0634|bA67K19.1 protein-coding 1344611 ASXL1 additional sex combs like 1 (Drosophila) In Drosophila, the Additional sex combs (Asx) gene encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. Although the function of the protein encoded by this gene is not known, it does show some sequence similarity to the protein encoded by the Drosophila Asx gene. 1580863 15489334,14702039,12657473,12477932,12168954,11780052,10231032,9477319,1349871 171023 NM_015338,AL034550,AL121583,CH471077,AB023195,AB084280,AJ438952,AK025756,AK122923,AL117518,AL117647,BC033284,BC064984,BC100280,BC137278,BC137280,BQ064719,BX109122,CR611154 NP_056153,CAI42259,CAI40414,CAI40415,EAW76377,EAW76378,EAW76379,EAW76380,BAA76822,BAD00087,CAD27708,CAB55975,CAB56029,AAH33284,AAH64984,AAI00281,AAI37279,AAI37281,Q498B9,Q5JWS8,Q6P1M8,Q76L82,Q8IXJ9 Hs.374043 GDB:11508953 KIAA0978|MGC117280|MGC71111 protein-coding 1312315 ASXL2 additional sex combs like 2 (Drosophila) 17672918,14702039,12888926,12477932,11214970,17353931 55252 NM_018263,AC010150,AC064847,CH471053,AB051472,AB084279,AK000649,AK001760,BC042999,BX647527,BX648218,CR933613 NP_060733,AAY14841,EAX00716,EAX00717,BAB21776,BAD00086,BAA91889,AAH42999,CAI45930,Q76L83 Hs.119815 ASXH2|DKFZp686C1968|FLJ10898|KIAA1685 protein-coding 1344717 ASXL3 additional sex combs like 3 (Drosophila) 16412590,16344560,15138607,14702039,11214970,10737800 80816 NM_030632,AC010798,AC023192,AC090989,AA447511,AB051500,AK056450,AK091683,AK131454,AL133050,BE145544,DB061724 NP_085135,BAB21804,BAB71186,BAC03720,BAD18599,CAB61377,Q8NB24,Q9C0F0 Hs.464876 KIAA1713 protein-coding 1348719 ASZ1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 632725,1580863 12040005,15489334,15364959,14702039,12690205,12477932,11279520 632725 136991 NM_130768,NR_023315,AC002465,CH236947,CH471070,AF461259,AK093445,BC028695,BC034963,BC068488,BC098399,BC126186,BC126188,DB457846 NP_570124,EAL24354,EAW83526,EAW83527,EAW83528,AAL68815,BAC04167,AAH34963,AAI26187,AAI26189,Q49AP3,Q8WWH4 Hs.352412 ALP1|ANKL1|C7orf7|GASZ|MGC26634|Orf3 protein-coding 1318420 ATAD1 ATPase family, AAA domain containing 1 737633,1580863 17203973,16303743,15489334,15164054,14702039,12477932 737633 84896 AC022016,AL133327,CH471066,CQ783876,AF361493,AK027506,AK075223,AL834370,BC010868,BC063530,NM_032810,BC073998,CR593614 NP_116199,CAI16701,EAW50177,EAW50178,EAW50179,EAW50180,CAF86903,AAL57218,BAB55161,BAC11482,CAD39033,AAH10868,AAH63530,AAH73998,Q6DKG1,Q8NBU5 Hs.435948 AFDC1|FLJ14600|FNP001 protein-coding 1312522 ATAD2 ATPase family, AAA domain containing 2 A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. 737633 17998543,17081983,15489334,15342556,15334068,15302935,14702039,12477932 737633 29028 AC021305,CH471060,AF118088,AK097133,AL833653,AY598335,BC007123,BC010686,BC019909,BC112942,BC113656,BP314109,CA441499,CB159561,CR749832,NM_014109 Q6PL18,NP_054828,EAW92033,EAW92034,EAW92035,EAW92036,AAF22032,BAC04959,CAH56229,AAT06746,AAH07123,AAH10686,AAH19909,AAI13657,CAH18688 Hs.370834 ANCCA|DKFZp667N1320|MGC131938|MGC142216|MGC29843|MGC5254|PRO2000 protein-coding 1604011 ATAD2B ATPase family, AAA domain containing 2B 14702039,12477932,10574462,9110174,8619474 54454 NM_017552,AC009242,AC066692,AC079924,AA767863,AB033066,AF038204,AK094821,AK125718,AK131301,BC037408,BC071781 NP_060022,BAA86554,BAC04429,BAD18469,AAH37408,AAH71781,Q6IPQ5,Q8IWJ3,Q9ULI0 Hs.467862 KIAA1240|MGC88424 protein-coding 1314304 ATAD3A ATPase family, AAA domain containing 3A 737633 17353931,18063578,17210950,16710414,15489334,14702039,12477932,14743216 737633 55210 NM_018188,AL645728,CH471183,AK001571,AK025865,AK056099,AK091144,BC007803,BC011814,BC014101,BC033109,BC063607 NP_060658,CAI22951,CAI22952,CAI22953,CAI22954,CAI22955,EAW56186,EAW56187,EAW56188,EAW56189,EAW56190,EAW56191,BAA91764,BAC03595,AAH07803,AAH11814,AAH14101,AAH33109,AAH63607,Q5SV14,Q5SV24,Q9NVI7 Hs.655253 FLJ10709 protein-coding 1347003 ATAD3B ATPase family, AAA domain containing 3B 737633 17210950,16909202,16710414,15489334,14702039,12477932,10574462,17353931 737633 83858 NM_031921,AL157945,AL645728,CH471183,AB033099,AF343078,AK024028,AK127857,AK290586,AL834179,BC002542,BC009938,BC018701,BQ954571,CR609514 NP_114127,CAI22068,CAI22070,EAW56192,EAW56193,EAW56194,BAA86587,AAK38647,BAB14787,BAF83275,CAD38876,AAH02542,AAH18701,Q5T9A4,Q8N3E6,Q96T67,Q9H834 Hs.23413 KIAA1273|TOB3 protein-coding 1604719 ATAD3C ATPase family, AAA domain containing 3C 14702039,12477932 219293 NM_001039211,AL157945,AL645728,AK074653,AK091918,AK094502,BC101211,BC101212 NP_001034300,CAI22067,CAI22950,BAC04369,AAI01212,AAI01213,Q5SV16,Q5T2N8 Hs.662046 FLJ34599|FLJ37183 protein-coding 1601848 ATAD4 ATPase family, AAA domain containing 4 12477932 79170 NM_024320,AC018521,CH471109,BC002865 NP_077296,EAW94779,EAW94780,AAH02865,Q59GS3,Q9BU68 Hs.368260 MGC11242 protein-coding 1605345 ATAD5 ATPase family, AAA domain containing 5 17632510,15983387,14702039,12477932,11468690,10843809 79915 NM_024857,AC127024,AC130324,AJ314648,AK022797,AL832103,AY557611,BC015051 NP_079133,CAC44537,BAB14248,CAH10412,AAT52049,AAH15051,Q96QE3,AAI48344 Hs.528902 C17orf41|FLJ12735|FRAG1 protein-coding 1319593 ATCAY ataxia, cerebellar, Cayman type (caytaxin) This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. 1599351,1599348 16344560,15489334,14702039,14556008,12477932,11347906,8845847 1599351,1599348 85300 NM_033064,AC011488,CH471139,AB058775,AK027889,AK092309,AK125457,AY220297,BC008736,BC014884,BC026217,BF516378,BX505461,CR624420,DA151785,DA778097 NP_149053,EAW69280,BAB47501,BAC03859,AAO63019,AAH26217,Q86WG3 Hs.418055 GDB:5582825 BNIP-H|CLAC|KIAA1872 protein-coding 1347369 ATCD1 ATP synthase subunit C domain containing 1 284015 XM_210324 1351713 ATD asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) 7702088 465 GDB:696353 1319626 ATE1 arginyltransferase 1 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in two transcript variants encoding distinct isoforms. 1580863 9858543,16943202,16002466,15489334,14702039,12477932 11101 NM_007041,NM_001001976,AC025947,AL731542,AL731566,CH471066,AF079098,AF079099,AK124669,AK292657,BC022026 NP_008972,NP_001001976,CAI12918,CAI12919,CAI14813,CAI14814,EAW49334,EAW49335,EAW49336,AAD12366,AAD12367,BAF85346,AAH22026,O95260,Q5SQQ2,Q5SQQ3,ABM83018,ABM86211 Hs.632080 GDB:9956791 MGC26724 protein-coding 1316513 ATF1 activating transcription factor 1 1580863 15489334,15041276,14767471,12805554,12760902,12748173,12734209,12631284,12527906,12477932,12444143,12391222,12195699,11992546,11909979,2196176,8401579,17565989,16716376,16344560,16327442,16227528,15884099,11877423,11018520,11014230,10945975,10585419,10567391,9824209,9685505,9671480,9016641,8889548,8663317,8621702,8570175,8384217,7730336,2516827,1655749,15806162 466 AAB25878 NM_005171,AC013244,CH471111,X55544,BC029619,BG502726,BG545632,BG611151,BG611861,BI712653,BU682151,BX102171,CR622614,CR624071,DA468394 NP_005162,EAW58151,CAA39150,AAH29619,AAB25878,P18846,Q9H4A8,ABZ91993,ABZ92155 Hs.648565 GDB:304637 EWS-ATF1|FUS/ATF-1|TREB36 protein-coding 732287 ATF2 activating transcription factor 2 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element (CRE), an octameric palindrome. The protein forms a homodimer or heterodimer with c-Jun and stimulates CRE-dependent transcription. The protein is also a histone acetyltransferase (HAT) that specifically acetylates histones H2B and H4 in vitro; thus it may represent a class of sequence-specific factors that activate transcription by direct effects on chromatin components. Additional transcript variants have been identified but their biological validity has not been determined. 704409,1580863 10909971,2529117,9030721,10878576,18348191,18077426,17869487,17681939,17626013,17337306,17258390,17082618,17081983,17054722,16896160,16869889,16418168,16049073,15916964,15878807,15691875,15304344,15302935,14988408,14734562,14678960,14630918,12833146,12805554,12788955,12663670,12592382,12477932,12270648,17244683,12200150,12110590,11932306,11836564,11713276,11259586,11231009,10821277,10567391,10357819,10327051,10085140,9920921,9873047,9748258,9685505,9671405,9628874,9524124,9488727,9445037,9207191,9139739,9058782,8628277,8440710,7737130,7737129,7535770,2521922,2320002,1838349,1833307,1828107,1827203,1641004,602896,16179804,9786917,8027667,15692053,9155018,11566021,7769693,9235954 704409 1386 NM_001880,AC007435,AC074291,AC096649,AC131958,CH471058,AI200584,AK128731,AY029364,BC026175,BC107698,BC130335,BC130337,BX648469,DQ003036,DQ003037,DQ003038,DQ003039,DQ003040,DQ003041,DQ003042,DQ003043,DQ003044,DQ003045,DQ003046,DQ003047,DQ003048,DQ003049,M31630,U16028,X15875 NP_001871,AAY15004,AAX88876,EAX11109,EAX11110,EAX11111,EAX11112,EAX11113,AAK55760,AAH26175,AAI07699,AAI30336,AAI30338,AAY17202,AAY17203,AAY17204,AAY17205,AAY17206,AAY17207,AAY17208,AAY17209,AAY17210,AAY17211,AAY17212,AAY17213,AAY17214,AAY17215,AAA35951,AAB64017,CAA33886,P15336,Q3B7B7,Q53RY2,Q8TAR1,Q96JT8 Hs.712538 GDB:128011 CRE-BP1|CREB2|HB16|MGC111558|TREB7 ratf2 protein-coding 735760 ATF3 activating transcription factor 3 Activating transcription factor 3 is a member of the mammalian activation transcription factor/cAMP responsive element-binding (CREB) protein family of transcription factors. Multiple transcript variants encoding two different isoforms have been found for this gene. The longer isoform represses rather than activates transcription from promoters with ATF binding elements. The shorter isoform (deltaZip2) lacks the leucine zipper protein-dimerization motif and does not bind to DNA, and it stimulates transcription presumably by sequestering inhibitory co-factors away from the promoter. It is possible that alternative splicing of the ATF3 gene may be physiologically important in the regulation of target genes. 1580863 18255255,7515060,18426833,18235102,18192274,18001166,17952119,17599613,17437852,17295236,17178897,17102133,17014422,16989641,16912181,16613840,16484797,16344560,16306208,16286461,16263788,16109718,16079301,15670751,15489334,15385533,15280448,14759258,14702039,14667575,12881527,12833146,12805554,12718878,12477932,12392999,12386811,12372430,12161427,12034827,11792711,11726207,11375399,8649793,8622660,8576171,8152431,7692236,2516827,11810028,16189514,15933712 467 NM_001040619,NM_004024,NM_001674,AC092803,AL590648,AL606913,AY426987,CH471100,AB066566,NM_001030287,AB078026,AB078027,AB078028,AB209032,AK125255,AU135799,AY313926,AY313927,BC006322,BI819383,BT006996,CR450334,CR600751,CR602765,CR612905,CR614684,CR614862,CR619424,CR620886,CR626784,DA691940,DB197400,L19871 NP_001035709,NP_004015,NP_001665,CAH72653,CAH72654,CAH72655,CAH72656,CAH72657,AAQ93358,EAW93383,EAW93384,EAW93385,EAW93386,EAW93387,EAW93388,NP_001025458,BAB84092,BAC00495,BAC00496,BAC05510,BAD92269,AAP93895,AAP93896,AAH06322,AAP35642,CAG29330,AAA20506,P18847,Q59GS7,Q5VTZ2,Q5VTZ4,Q6ICQ9,Q7Z566,Q7Z567,Q8NG55,Q8WYM6,ABM83649,ABM86898 Hs.460 GDB:370911 protein-coding 733712 ATF4 activating transcription factor 4 (tax-responsive enhancer element B67) This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromsome at q28 in a region containing a large inverted duplication. 1580863,734979 11960987,9190894,12689582,15788408,15314157,18195013,18189280,18171674,18163433,17996332,17938202,17822787,17707795,17684156,17369260,17347301,17346882,16687408,16682973,16219772,16189514,15677469,15489334,15461802,15385533,14747470,14695168,14630918,14561767,12860379,12743605,12477932,11274184,11087824,11025215,11018027,10591208,10419887,9488481,9295363,8939898,2516827,1847461,1827203,1534408,1371974,14623284,12812986,12805554 734979 468 NM_182810,NM_001675,AL022312,CH471095,AK057751,BC008090,BC011994,BC016855,BC022088,BC024775,BC044895,BC073754,BC073990,CR450353,CR456384,CR590198,CR591677,CR592048,CR595416,CR596727,CR599519,CR601074,CR601622,CR602573,CR603180,CR604584,CR604900,CR605268,CR605521,CR605724,CR605899,CR605980,CR606384,CR606595,CR606709,CR607769,CR610045,CR610254,CR610256,CR611425,CR614389,CR614692,CR616253,CR617911,CR619870,CR621381,CR623334,CR623979,CR625158,CR625892,D90209,M86842 NP_001666,NP_877962,CAB45284,EAW60341,EAW60342,AAH08090,AAH11994,AAH16855,AAH22088,AAH24775,AAH44895,AAH73754,AAH73990,CAG29349,CAG30270,BAA14234,AAA52071,P18848,Q6ICP0,Q96AQ3,CAK54373,CAK54672,ABM82684,ABM85868 Hs.496487 GDB:132551 CREB-2|CREB2|TAXREB67|TXREB activating transcription factor atf-4 protein-coding 1344419 ATF4B activating transcription factor 4B 23777 GDB:10795290 1352172 ATF4C activating transcription factor 4C 23778 GDB:10795291 1353507 ATF4P1 activating transcription factor 4 pseudogene 1 11709543,11410370,8088803 469 NG_001080,AF277315,U03712 GDB:371753 ATF4P|TAXREB67P|TXREBP|atf4p activating transcription factor 4 pseudogene (tax-responsive enhancer element b67 pseudogene) pseudo 2291806 ATF4P2 activating transcription factor 4 pseudogene 2 11709543,11410370,8088803 340600 NG_002951,AF277315 pseudo 1350993 ATF5 activating transcription factor 5 1580863 10373550,18195013,18055463,17346882,16344560,16300731,16170340,16164412,15890932,15489334,15358120,15221005,14702039,12812986,12477932,11278933,11087824,1371974 22809 NM_012068,AC011452,CH471177,AB021663,AB073613,AF101388,AF305687,AK024402,AK091985,AK290592,BC005174,CR592798,CR609432,DA251296 NP_036200,EAW52581,EAW52582,EAW52583,BAA78477,BAD38650,AAD28370,AAG22558,BAF83281,AAH05174,Q9Y2D1 Hs.9754 GDB:3811907 ATFX|FLJ34666|HMFN0395 1643251 BW139_H protein-coding 1313517 ATF6 activating transcription factor 6 ATF6 is an endoplasmic reticulum (ER) stress-regulated transmembrane transcription factor that activates the transcription of ER molecules.[supplied by OMIM] 1580863 12076252,12014989,11909875,11821395,11805088,11483355,11287625,11163209,12097557,11158310,2516827,16189514,9271374,10866666,10564271,9837962,18022401,17686766,17522056,17442311,17440018,17327457,17101776,17092596,16710414,16505252,15598891,15489334,15299016,15063770,14765107,14699159,12949534,12805554,12782636,12713871,12477932 22926 NM_007348,AL359541,AL391825,AL450995,CH471067,AB015856,AB208929,AF005887,AK290498,BC014969,BC071997 NP_031374,CAH73985,EAW90694,BAA34722,BAD92166,AAB64434,BAF83187,AAH14969,AAH71997,P18850,Q59H30,AAI66676 Hs.492740 GDB:9957734 protein-coding 1312669 ATF7 activating transcription factor 7 1580863 1694576,8288576,17081983,15735663,14643450,12805554,12477932,11278933,10698518,8939888,8649858,7769693 11016 NM_006856,AC023509,AC073594,CH471054,BC032433,BC042363,BC136302,BC140006,X52943,X57197 NP_006847,EAW96723,EAW96724,AAH42363,AAI36303,AAI40007,CAA37118,CAA40483,P17544,Q8IVR8,Q9UD83 Hs.12286 GDB:9956156 ATFA|MGC57182 protein-coding 1314412 ATF7IP activating transcription factor 7 interacting protein 12665582,17081983,16757475,16314315,15691849,15489334,15231748,14702039,14536086,12812986,12659632,12477932,10976766,10777215 55729 NM_018179,AC007782,AC008114,AC124892,CH471094,AF425650,AJ242978,AK001001,AK001550,AK021569,AK025060,AK027575,AK074868,AY337596,BC037312,BC053625,BC063855,BX648096 NP_060649,EAW96314,EAW96315,EAW96316,EAW96317,EAW96318,EAW96319,EAW96320,AAO91864,CAB45135,BAA91461,BAA91751,AAQ92978,AAH37312,AAH63855,Q6VMQ6 Hs.591151 FLJ10139|FLJ10688|MCAF|p621 protein-coding 1314578 ATF7IP2 activating transcription factor 7 interacting protein 2 15691849,15489334,14702039,12477932,9373149,8125298 80063 BI459223,CR619028,NM_024997,AC131649,CH471112,AK022730,AK093414,AK223492,AL832987,AY560615,BC033891,BC069695,BC069713,BC069730,BC137079 Q5U623,AAI37080,NP_079273,EAW85183,EAW85184,BAB14209,BAC04157,BAD97212,CAH56323,AAT66299,AAH33891,AAH69695,AAH69713,AAH69730 Hs.513343 FLJ12668|MCAF2 protein-coding 1351458 ATG10 ATG10 autophagy related 10 homolog (S. cerevisiae) Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM] 1580863,1643329 17353931,11256614,16381901,15498874,15489336,15489334,14702039,12890687,12482611,12477932,11230166,11076863,9373149,8125298,2890687 1643329 83734 AF318326,AK024016,AK225969,AL136912,BC004551,BC018651,BC027718,BC029268,NM_031482,AC010598,AC106824,AC114969,CH471084 AAL55833,BAB14778,CAB66846,AAH18651,AAH29268,Q0JRY1,Q8WWC1,Q9H0Y0,CAL38733,ABM83358,ABM86570,NP_113670,EAW95881,EAW95882,EAW95883,EAW95884,EAW95885,EAW95886 Hs.700785 APG10|APG10L|DKFZP586I0418|FLJ13954|pp12616 apg10 autophagy 10-like (s. cerevisiae) protein-coding 1314851 ATG12 ATG12 autophagy related 12 homolog (S. cerevisiae) Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM] 1580863,1643329 11825910,9852036,17457038,16189514,15489334,14702039,12665549,12482611,12477932,12207896,11890701,9490301,8889548,17353931 1643329 9140 NM_004707,AC026449,CH471086,AB002440,AB017507,AK098251,AL161968,BC011033,BC012266,BM697565,BX327373,CR608587,CR614175,CR625063 NP_004698,EAW48954,EAW48955,EAW48956,BAA36493,AAH11033,AAH12266,O94817 Hs.264482 GDB:9955093 APG12|APG12L|FBR93|HAPG12 apg12 autophagy 12-like (s. cerevisiae) protein-coding 2293247 ATG12P ATG12 autophagy related 12 homolog (S. cerevisiae) pseudogene 100151642 NG_007656,AC025198 pseudo 1321647 ATG16L1 ATG16 autophagy related 16-like 1 (S. cerevisiae) Autophagy is the major intracellular degradation system delivering cytoplasmic components to lysosomes, and it accounts for degradation of most long-lived proteins and some organelles. Cytoplasmic constituents, including organelles, are sequestered into double-membraned autophagosomes, which subsequently fuse with lysosomes. ATG16L1 is a component of a large protein complex essential for autophagy (Mizushima et al., 2003 [PubMed 12665549]).[supplied by OMIM] 1643329 17353931,18438406,18338763,18200510,18166373,18162085,18088053,17921695,17894849,17625155,17534574,17484864,17455206,17200669,16344560,15620219,15489334,14743216,14702039,12975309,12665549,12477932,11181995 1643329 55054 EF560734,NM_030803,NM_017974,AC013726,CH471063,AA809053,AK000897,AK001690,AK024453,AK026330,AK027854,AK074434,AK123876,AL834526,AY358182,AY398617,BC000061,BC006253,BC013411,BC071846,BC117337,BG702756,DB084962,DB474638,EF079889,EF079890 Q53SV2,Q676U5,ABQ59044,Q8TCI4,Q9H7M5,Q9NWG8,NP_110430,NP_060444,AAY14860,EAW71033,EAW71034,EAW71035,EAW71036,EAW71037,EAW71038,EAW71039,EAW71040,BAA91413,BAB15743,BAB15448,BAB55412,BAB85082,BAC85713,CAD39182,AAQ88549,AAR32130,AAH71846,AAI17338,ABN48554,ABN48555 Hs.529322 APG16L|ATG16L|FLJ00045|FLJ10035|FLJ10828|FLJ22677|IBD10|WDR30 apg16 autophagy 16-like (s. cerevisiae) protein-coding 1606757 ATG16L2 ATG16 autophagy related 16-like 2 (S. cerevisiae) 1643329 14702039,12477932,11214971 1643329 89849 NM_033388,AP002381,CH471076,AK024423,AK090597,AK091151,AK093017,AL832974,BC036713,BC069189,BC108672,BC137489,BC137490,BC142718,BC146660,BQ929430,CR590633,CR593047,CR605872,CR609750 NP_203746,EAW74874,EAW74875,EAW74876,EAW74877,EAW74878,EAW74879,BAB15713,BAC03485,BAC04021,CAH56355,AAH36713,AAI08673,AAI37490,AAI37491,AAI42719,AAI46661,Q2VPK0,Q8NAA4,Q9H7Q5 Hs.653186 FLJ00012|WDR80 protein-coding 1604391 ATG2A ATG2 autophagy related 2 homolog A (S. cerevisiae) 12477932,9455477,9253601 23130 NM_015104,AP001187,CH471076,AB007864,AK126181,BC008593,BC027481,BC033850,BC053596,BC110650,BC113090,BC113091 NP_055919,EAW74323,BAA23700,BAC86477,AAH08593,AAH27481,AAH53596,AAI10651,AAI13091,AAI13092,A0AUL9,Q2TAZ0 Hs.370671 KIAA0404|MGC117153 protein-coding 1312572 ATG2B ATG2 autophagy related 2 homolog B (S. cerevisiae) 15489334,15028280,14702039,12508121,12477932 55102 NM_018036,AL355102,AL359240,CH471061,AK001104,AK055200,AK123451,AK128275,AL133095,BC015016,BC015851,BU101822,BU166120,BU167202 NP_060506,EAW81633,BAA91504,BAB70872,BAC87363,AAH15016,Q96BY7,Q96DQ3 Hs.168241 C14orf103|FLJ10242 protein-coding 1353416 ATG3 ATG3 autophagy related 3 homolog (S. cerevisiae) Autophagy is a process of bulk degradation of cytoplasmic components by the lysosome or vacuole. Human ATG3 displays the same enzymatic characteristics in vitro as yeast Apg3, a protein-conjugating enzyme essential for autophagy (Tanida et al., 2002 [PubMed 11825910]).[supplied by OMIM] 737633,1580863,1643237,1643329 11825910,16704426,15592455,15489334,15144186,14702039,12477932,17353931 737633,1643237,1643329 64422 AC092692,CH471052,AB079384,AF202092,AK025778,AL137515,BC002830,BC024221,BC043267,CR594782,CR601674,CR608289,CR611179,NM_022488,CR619599,CR623472 NP_071933,EAW79668,EAW79669,EAW79670,EAW79671,BAB90843,AAG35611,BAB15237,CAB70781,AAH02830,AAH24221,Q9NT62,ABM84350,ABM87773 Hs.477126 APG3|APG3-LIKE|APG3L|DKFZp564M1178|FLJ22125|MGC15201|PC3-96 apg3 autophagy 3-like (s. cerevisiae) protein-coding 2289735 ATG3P ATG3 autophagy related 3 homolog (S. cerevisiae) pseudogene 100135756 NG_007378,AY392024 AGP3|dJ54G6.1 pseudo 1604759 ATG4A ATG4 autophagy related 4 homolog A (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Transcript variants that encode distinct isoforms have been identified. 1643329 12473658,15169837,12446702,17347651,15772651,15489334,14702039,12477932 1643329 115201 NM_178270,AL031177,CH471120,AB066214,AJ320508,AJ320509,AJ504651,NM_052936,AK054927,AK123287,BC041862,BC061696,BM541631,CR599663,CR607492,CR616947,CR625383 NP_443168,NP_840054,CAI43137,CAI43138,CAI43141,CAI43142,EAX02689,EAX02690,EAX02691,EAX02692,EAX02693,EAX02694,EAX02695,EAX02696,BAB83889,CAC69076,CAC69077,CAD43218,BAB70829,AAH41862,AAH61696,Q5JYY2,Q8WYN0,Q96NQ0 Hs.8763 APG4A|AUTL2 protein-coding 1320126 ATG4B ATG4 autophagy related 4 homolog B (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1643329 15169837,15187094,12446702,17081983,16704426,16381901,16325851,16183633,16169070,15489336,15489334,15355958,14702039,12477932,11230166,11076863,10231032,17353931 1643329 23192 NM_013325,AC133528,CH471063,AB023160,AB066215,AJ504652,AK027332,AK027462,AK027763,AK123425,AK125277,AL050288,AL080168,AL133638,BC000719,BX648007,CR591579,CR591872,CR592790,CR595851,CR596663,CR600855,CR603562,CR604848,CR605379,CR605500,CR607059,CR607129,CR609224,CR609647,CR610655,CR616109,NM_178326,CR617577,CR619883,CR620961,CR621537,CR624104 NP_847896,NP_037457,AAY14919,EAW71278,EAW71279,EAW71280,EAW71281,BAA76787,BAB83890,CAD43219,BAB55042,BAB55127,BAB55353,BAC86110,CAB45756,AAH00719,CAH56198,Q0JS88,Q53NU4,Q63HN5,Q9Y4P1,CAL38626,ABM82795 Hs.283610 APG4B|AUTL1|MGC1353 apg4 autophagy 4 homolog b (s. cerevisiae) protein-coding 1317140 ATG4C ATG4 autophagy related 4 homolog C (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. 1643329 12446702,17442669,15489334,14702039,12477932 1643329 84938 NM_032852,NM_178221,AC099794,AC103923,AC119425,CH471059,AJ312234,AJ320169,AK027773,BC008395,BC018678,BC033024,BI518482,CR599981 NP_116241,NP_835739,EAX06579,EAX06580,CAC85556,CAC43939,BAB55356,AAH18678,AAH33024,Q05D29,Q96DT6,ABM83408,ABM86619 Hs.7353 APG4-C|APG4C|AUTL1|AUTL3|FLJ14867 apg4 autophagy 4 homolog c (s. cerevisiae) protein-coding 1348604 ATG4D ATG4 autophagy related 4 homolog D (S. cerevisiae) Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. 1580863,1643329 12446702,15489334,14702039,12477932,9373149,8125298 1643329 84971 NM_032885,AC011461,CH471106,AJ312332,AK056210,AK223383,BC007639,BC016845,BC068992 NP_116274,EAW84116,EAW84117,EAW84118,EAW84119,CAC85951,BAB71121,BAD97103,AAH07639,AAH16845,AAH68992,Q53FA6,Q86TL0,Q969K0,Q96MZ6 Hs.512799 APG4-D|APG4D|AUTL4 apg4 autophagy 4 homolog d (s. cerevisiae) protein-coding 1353398 ATG5 ATG5 autophagy related 5 homolog (S. cerevisiae) 1580863 17353931,15292400,16341674,15778222,15489334,15342556,14702039,14574404,12703993,12665549,12482611,12477932,12417306,12207896,11825910,11725643,11349150,11266458,10702672,9852036,9563500,7796880 9474 BX537904,CR596348,CR601228,CR610160,CR749386,EU283339,Y11588,NM_004849,AL022067,AL133509,AL138917,CH471051,AF293841,AK001899,BC002699,BC093011,BM831472,BP297166 CAD97890,CAH18236,ABX79918,CAA72327,Q7Z3H3,Q9H1Y0,NP_004840,CAI42297,CAI42298,CAC19459,CAI42831,CAI20313,CAI20314,EAW48414,EAW48415,EAW48416,EAW48417,EAW48418,AAG44955,AAH02699,AAH93011 Hs.486063 GDB:9953174 APG5|APG5-LIKE|APG5L|ASP|hAPG5 apg5 autophagy 5-like (s. cerevisiae) protein-coding 1312481 ATG7 ATG7 autophagy related 7 homolog (S. cerevisiae) This gene was identified based on homology to Pichia pastoris GSA7 and Saccharomyces cerevisiae APG7. In the yeast, the protein appears to be required for fusion of peroxisomal and vaculuolar membranes. The protein shows homlogy to the ATP-binding and catalytic sites of the E1 ubiquitin activating enzymes. 1580863,1643329,1643198 10233149,12890687,16704426,16303743,15489334,12482611,12477932,11890701,11825910 1643329,1643198 10533 NM_006395,AC020750,AC022001,AC026185,CH471055,AF094516,AK075221,AL122075,BC000091 NP_006386,EAW64093,EAW64094,EAW64095,EAW64096,EAW64097,AAC69630,CAB59250,AAH00091,O95352 Hs.38032 APG7-LIKE|APG7L|DKFZp434N0735|GSA7 apg7 autophagy 7-like (s. cerevisiae) protein-coding 1353328 ATG9A ATG9 autophagy related 9 homolog A (S. cerevisiae) 1580863,1643198 15755735,17081983,16381901,15489336,15489334,15342556,14702039,12477932,11230166,11076863 1643198 79065 NM_001077198,AC068946,CH471063,AK021732,AK025822,AK027448,AK056595,AK289755,AL833865,BC001098,BC001206,BC021202,BC065534,BK004018,BP284912,BX537984,NM_024085,BX538192,BX538198,CR617520 NP_076990,NP_001070666,EAW70706,EAW70707,BAB13882,BAB15246,BAB55119,BAF82444,CAD38723,AAH01098,AAH21202,AAH65534,DAA05199,CAD97944,CAD98061,CAD98064,Q0JS38,Q3ZAQ6,Q7Z3C6,CAL38676 Hs.323363 APG9L1|MGD3208 apg9 autophagy 9-like 1 (s. cerevisiae) protein-coding 1352218 ATG9B ATG9 autophagy related 9 homolog B (S. cerevisiae) 1643198 15755735,15234981,14702039 1643198 285973 NM_173681,AC010973,AK027791,AK096734,AY316116,AY515311,BC128587,BK004019,CR607530,CR613491 NP_775952,BAC04853,AAQ86941,AAS87212,AAI28588,DAA05200,Q674R7 Hs.647092 APG9L2|NOS3AS|SONE protein-coding 1604792 ATHL1 ATH1, acid trehalase-like 1 (yeast) 16341674,15342556,15146197,12477932 80162 NM_025092,AC136475,CH471278,AI217945,AI919161,AK026288,AK074155,AK090428,AL832932,BC048336,BC066641,BC109257,BC109258,BM842384,BP262327,CN298034 NP_079368,EAW61223,EAW61224,EAW61225,EAW61226,EAW61227,EAW61228,EAW61229,EAW61230,EAW61231,EAW61232,BAB15431,BAB84981,BAC03409,CAH56316,AAI09258,AAI09259,Q32M88,Q8NF51 Hs.353181 FLJ22635|MGC129858|MGC129859 protein-coding 1352923 ATHS atherosclerosis susceptibility (lipoprotein associated) 1731344 470 GDB:128803 731594 ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 1599355,1580863,70804,1300048 8567683,17353931,17617058,17530705,17439323,17410198,17181924,17009228,16947783,16447238,16344560,15677700,15489334,15457444,15114530,14966129,12477932,11948179,11096114,9598063,9378707,8867801,1286667 1599355,70804 471 NM_004044,AC073284,CH471063,AB062403,AK290067,AK313066,BC008879,CR594366,CR600478,CR601137,CR604622,CR606023,CR609807,CR612551,CR617706,D82348,D89976,DA074758,U37436 NP_004035,AAY24062,EAW70523,EAW70524,EAW70525,EAW70526,EAW70527,EAW70528,EAW70529,BAB93490,BAF82756,BAG35895,AAH08879,BAA11559,BAA21762,AAA97405,P31939,Q53S28,ABM84188,ABM87590 Hs.90280 GDB:6108041 AICAR|AICARFT|FLJ93545|IMPCHASE|PURH 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp protein-coding 1601766 ATL3 atlastin 3 14702039,12477932,10737800 25923 NM_015459,AP000753,CH471076,AK023383,AK090822,AK094227,AK097588,AL117600,BC077727,BE710391,BI829120,BX642720,CR936784,BX648468 NP_056274,EAW74161,EAW74162,EAW74163,BAB14552,BAC03524,BAC05111,CAB56010,AAH77727,Q6DD88,Q8N2C4 Hs.356719 DKFZp564J0863 protein-coding 1606040 ATM ataxia telangiectasia mutated The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. Two transcript variants encoding different isoforms have been found for this gene. 1643349,1643350,1643351 9733515,7792600,11943150,10550055,10959836,11331603,12556884,12607003,18451257,18433505,18384426,18381943,18344987,18270339,18264724,18250156,18243662,18172300,18171990,18164969,17982490,17942393,17934520,17932249,17928013,17923702,17910737,17855027,17786248,17706468,17694070,17640065,17634426,11375976,17632790,17623063,17613764,17611684,17609267,17606465,17594478,17593081,17582598,17580311,17544403,17537652,17525732,17517479,17510082,17502119,17486112,17478428,17431766,17428792,17428325,17428320,17426037,17409195,17409144,17393301,17384681,17384674,17351744,17350468,17341604,17341484,17333338,17293864,17242184,17227291,17203191,17189255,17178844,17172861,17166884,17164260,17151932,17140287,17132159,17124492,17121863,17106266,17030982,17019709,17008050,17001622,16998505,16997395,17389389,16966185,15790808,15788536,15758953,15713674,15680327,15635413,15629612,15611093,15574327,15546863,15546858,15539948,15533933,15516988,15510216,15489221,15485651,15459181,15456891,15456759,15450731,15390180,15389585,15361830,15345673,15314656,15302935,15284180,15280931,15280449,16951182,16949371,16943424,16941484,16931761,16914028,16905549,16858402,16849332,16832357,16824197,16765197,16741947,16728507,16705183,16652348,16651613,16638864,16636671,16631604,16631465,16628006,16627474,16622469,16603769,16582589,16574953,16540648,16533773,16520463,16497931,16497724,16481012,16478990,16474843,16474151,16474133,16958054,16461339,16432227,16431910,16426903,16426422,16380133,16338099,16327781,16326028,16325375,16319535,16293623,16266405,16221684,16184611,16167060,16163388,16141325,16082221,16049814,16014569,16012708,15987456,15964848,15964794,15929992,15928302,15923642,15916964,15880721,15880680,15878096,15854902,15846060,15840767,15837784,15824150,16329039,10464290,10425038,10397742,10234507,10217116,10212258,10023947,9892178,9887333,9872980,9843217,9836640,9806882,9792410,9792409,9781027,9766667,9765199,9733514,9711876,9707615,9600235,9573030,9521587,9497252,9488723,9488043,15279808,14695167,14657032,14643952,14628072,14570874,14562025,14553952,14532133,14519663,12969974,12958068,12955071,12935922,12926986,12917204,12915485,12882767,12875964,12861053,12860021,12833146,12815592,12813460,12810666,12782595,12773400,12709442,12697768,12676583,12673126,12660173,12650908,12646636,12645530,12637545,12628935,12612651,12607005,12588975,12545170,12519769,12513844,12511424,12493754,12477932,12473594,12473176,12429935,12420214,12409306,12376469,12362033,12242661,12234250,12151394,12149228,12091354,12086603,12072552,12065055,12036913,12036888,12034743,12032824,12024051,11996792,11992555,11927575,11901158,11897822,11893489,11889466,11877377,11875057,11859564,11853558,11849780,11830610,11830600,11826028,11805335,11780126,11756551,11723136,11709713,11689934,11606401,11571274,12526805,11551930,11459832,11418864,11390642,11298136,11290740,11278964,11278446,11252893,11238919,11165203,11158303,11146653,11114888,10973490,10910365,10873394,10866324,10839545,10839544,10817650,10802669,10783165,10766245,10738255,10713094,10706620,10673501,10608806,10571946,10567403,10534763,10500142,15279780,15279777,15279774,15258567,15234984,15226443,15217510,15210935,15174027,15173573,15164409,15101044,15084244,15073328,15064416,15048089,15042666,15039971,15024084,14983937,14966265,14754616,14745549,14744854,14744762,14735203,14695534,14695186,9463314,9450874,9443866,9334731,9288106,9199932,9168117,9168116,9150358,9108147,9050866,9043869,8988033,8969240,8968760,8845835,8808599,8797579,8789452,8755918,8698354,8665503,8589678,8521392,7702088,7644499,3200306,2491181,2001833,16983346,12447390,14499622,15199141,11016625,15542845,12540856,15632067,11877376,15159397,9135004,15175154 1643349,1643350,1643351 472 NM_000051,NM_138292,AP001925,AP005718,AY220758,CH471065,U55757,U67092,U82828,AB209133,AF035328,BC007023,BC022307,BC061584,BC152389,BT006764,CR749436,U26455,U33841,U67093,X91196,Y08455 NP_000042,NP_612149,AAO26044,EAW67108,EAW67109,EAW67110,EAW67111,EAW67112,EAW67113,EAW67114,EAW67115,AAB38309,AAB38310,AAC51298,AAB65827,BAD92370,AAM09295,AAH22307,AAH61584,AAI52390,AAP35410,CAH18274,AAA86520,AAC50289,CAA62603,CAA69711,Q13315,Q59GH6,Q5XKH5,Q68DE6,Q6P7P1,Q8TDS0,Q96QM9 Hs.367437 GDB:593364 AT1|ATA|ATC|ATD|ATDC|ATE|DKFZp781A0353|MGC74674|TEL1|TELO1 protein-coding 1603699 ATMIN ATM interactor 17525732,15933716,15489334,12477932,9455477,8889548 23300 NM_015251,AC092718,CH471114,AB007891,AK025058,AK290943,BC002701,BI259534,BM693775,BX343387,BX375235,CF593326,CR624345,CR749457 NP_056066,EAW95549,EAW95550,EAW95551,EAW95552,BAA24861,BAF83632,AAH02701,CAH18291,O43313,Q68DC9 Hs.16349 ASCIZ|DKFZp779K1455|FLJ76795|KIAA0431|ZNF822 protein-coding 1352790 ATN1 atrophin 1 Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. 1358440,1580863 9647693,7647802,10814707,18182848,17503969,17081983,16967484,16858508,16534126,16407196,16091834,15302935,15223312,15148151,14756671,12812981,12477932,12464607,11984006,11843701,11807410,11781699,11121205,10737800,10332026,9949204,9845282,9361003,9074930,8965642,8852663,8786114,8723724,8325628,8136840,8136826,7951323,7842016,7485154,14645126,9535906 1358440 1822 NM_001007026,NM_001940,CH471116,D63808,U47924,AW411230,BC051795,BE142829,BQ448220,BQ880124,BQ897715,BQ957462,D31840,D38529,U23851 NP_001007027,NP_001931,EAW88706,EAW88707,EAW88708,BAA23631,AAB51321,AAH51795,BAA06626,BAA07534,AAB50276,P54259,Q59FW4,Q86V38,ABZ92035 Hs.143766 GDB:270336 B37|D12S755E|DRPLA|NOD dentatorubral-pallidoluysian atrophy (atrophin-1) protein-coding 1349240 ATOH1 atonal homolog 1 (Drosophila) This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. 1580863 17826772,17549667,17397818,17241872,17000673,16831200,16647036,16382053,15489334,14757642,12477932,12209986,11889557,11748221,8872459,18275842,9449674 474 NM_005172,AC087413,CH471057,U61148,BC069145,BC069578,BC069594,BC069604,BC113623,BC113625 NP_005163,EAX06046,AAB41305,AAH69145,AAH69578,AAH69594,AAH69604,AAI13624,AAI13626,Q6ISE7,Q92858,ABZ91994 Hs.532680 GDB:5885807 ATH1|HATH1|MATH-1 protein-coding 1312698 ATOH7 atonal homolog 7 (Drosophila) ATOH7 is a member of the family of basic helix-loop-helix (bHLH) proteins with similarity to Drosophila 'atonal,' a proneural bHLH gene that controls photoreceptor development (Brown et al., 2002 [PubMed 11889557]).[supplied by OMIM] 1580863 14516699,12617822,12477932,11889557 220202 NM_145178,AC016395,AF418922,CH471083,BC032621,BK000277 NP_660161,AAL11911,EAW54269,AAH32621,DAA01057,Q8N100,ABM82115,ABM85298 Hs.175396 GDB:11508639 Math5 protein-coding 1350083 ATOH8 atonal homolog 8 (Drosophila) 737633 14702039,12477932,12419857 737633 84913 NM_032827,AC012454,CH471053,CQ783576,AF529205,AK027614,AK074681,AK096049,AL831857,BC021207,BC094832 NP_116216,EAW99481,EAW99482,CAF86744,AAO85773,BAB55233,BAC11135,CAH56263,AAH21207,AAH94832,Q96SQ7 Hs.135569 FLJ14708|FLJ38730|HATH6 protein-coding 737338 ATOX1 ATX1 antioxidant protein 1 homolog (yeast) This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. 1580863 12029094,10497213,9430722,15670166,18416466,18245776,17881304,17616150,17545667,16571664,16172131,15761197,15489334,15476398,15146197,14709553,14702039,12763797,12686548,12679332,12594858,12477932,12420134,10982193,10966647,10557326,9083055 475 NM_004045,AC011374,AC091982,AY165037,AY986502,CH471062,AK091843,AK293063,BC112248,BC112250,BI599233,BT009786,BU172675,CN280769,CR456901 NP_004036,AAN84554,AAX81411,EAW61663,EAW61664,BAF85752,AAI12249,AAI12251,AAP88788,CAG33182,O00244,Q6IBA3 Hs.125213 GDB:6381307 ATX1|HAH1|MGC138453|MGC138455 atx1 (antioxidant protein 1) homolog 1 (yeast) protein-coding 1314601 ATP10A ATPase, class V, type 10A The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. 1580863 11353404,18186074,15489334,12477932,12105293,11326269,11015572,10482951,9628581 57194 NM_024490,AC016266,AC023449,AC109512,AY029487,AY029504,CH471151,AB011138,AB051358,BC038712,BC052251 NP_077816,AAK33100,EAW57647,EAW57648,EAW57649,EAW57650,BAA25492,BAB47392,AAH38712,AAH52251,O60312,Q4G0S9,Q6ZWH3 Hs.659258 GDB:10796917 ATP10C|ATPVA|ATPVC|KIAA0566 protein-coding 1345428 ATP10B ATPase, class V, type 10B 1580863 15372022,14702039,12477932,11015572,9872452 23120 NM_025153,AC008388,AC008456,AC011363,AC091928,AB018258,AK024894,AK025130,AK025290,AK025294,AK090832,BC018773,BC108322 NP_079429,BAA34435,BAB15074,BAC03528,AAI08323,O94823,Q2YDW8 Hs.109358 GDB:9955018 ATPVB|FLJ21477|KIAA0715 protein-coding 1316047 ATP10D ATPase, class V, type 10D 1580863 12532265,14702039,12477932,10819331 57205 NM_020453,AC092597,AC107398,CH471069,AB040920,AJ441078,AK027598,AK074930,BC057839,BC131535 NP_065186,EAW93036,EAW93037,BAA96011,CAD29577,BAB55221,BAC11299,AAH57839,AAI31536,Q6PEW3,Q9P241 Hs.437241 GDB:10796918 ATPVD|KIAA1487 protein-coding 1318606 ATP11A ATPase, class VI, type 11A The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. 1580863 15533723,15057823,14702039,12477932,11015572,10470851 23250 NM_032189,AL139384,AL162711,AL356740,AL356752,CH471085,AB028944,AI703438,AK024264,AK025511,AK091253,AK128241,AL161996,NM_015205,BC008824,BC024154,BC035215,BC044649,BE675783 NP_056020,NP_115565,CAH70242,CAI16578,CAI16579,EAX09171,BAA82973,BAB14864,BAB15157,CAH56364,AAH24154,P98196,Q5T556,Q659C3,Q6PJ25,Q9H6U5,Q9H7W0 Hs.29189 GDB:11499911 ATPIH|ATPIS protein-coding 1348822 ATP11B ATPase, class VI, type 11B P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM] 1580863 11790799,11015572,16641997,15489334,14702039,12477932,10737800,10231032 23200 NM_014616,AC069431,AC092953,CH471052,AB023173,AF156548,AK093727,AL133061,BC010630,BC033880,BC042180,BF372979,BI861412,BU431705,BX489704,BX537779 NP_055431,EAW78344,EAW78345,EAW78346,EAW78347,BAA76800,AAF09446,CAB61385,AAH10630,AAH33880,AAH42180,CAD97838,Q7Z678,Q8N4L6,Q9Y2G3,AAI48559 Hs.478429 GDB:9955384 ATPIF|ATPIR|DKFZP434J238|DKFZP434N1615|KIAA0956|MGC46576 protein-coding 1351598 ATP11C ATPase, class VI, type 11C 1580863 15772651,15533723,14702039,12477932,11015572,10737800,8034313 286410 NM_001010986,NM_173694,AL161777,AL356785,AL590077,CH471150,AJ580093,AJ580094,AK091552,AK093835,AK125474,AK125476,AK125986,AK131262,BC132728,BC132730,BX648320,BX648981,D16467 NP_001010986,NP_775965,CAI41444,CAI41447,CAI40418,EAW88424,EAW88425,CAE30472,CAE30473,BAC03692,BAC86172,BAC86377,BAD18440,Q8NB49 Hs.88252 GDB:10796920 ATPIG|ATPIQ protein-coding 734042 ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. 704409,1580863,704405,1300048 8838794,16344560,15135233,15086469,12477932,12230809,12110518,11880279,8889548,8045293,3036582,3035563,2842249,1847115 704409 479 P54707,Q5W035,Q8N5U2 L42558,L42559,L42560,L42561,L42562,L42563,L42565,L42566,L42567,L42568,L42569,M27574,X69823,X69824,BC031609,CA450333,DB232979,M16797,NM_001676,AL157364,CH471075,U02076 EAX08346,AAC37589,AAA35576,CAA49477,CAA49478,AAH31609,NP_001667,CAH72440,EAX08343,EAX08344,EAX08345,AAA51802,AAB37755,P54707,Q5W035,Q8N5U2 Hs.147111 GDB:119714 ATP1AL1 1643387 BW328_H protein-coding 1346886 ATP13A1 ATPase type 13A1 17081983,16344560,16335952,15489334,14702039,12477932,11347906 57130 AK074798,AK074920,AK095287,AK123780,AK125861,AK130125,AK172778,AL834180,BC009302,BC069211,CR614625,DA103408,NM_020410,AC011458,CH471106,AB058728,AF288687,AK026044,AK056420,AK074159 BAC11294,BAC85690,BAC86325,BAD18759,CAD38877,AAI56251,AAH09302,AAH69211,Q6NT90,Q6ZMG7,Q6ZUA1,Q8N3E5,Q8NC73,Q8TEG5,Q9HD20,NP_065143,EAW84847,EAW84848,EAW84849,EAW84850,EAW84851,EAW84852,EAW84853,EAW84854,BAB47454,AAG01173,BAB15334,BAB84985 Hs.501794 ATP13A|CGI-152|DKFZp761L1623|FLJ31858|FLJ41786|FLJ43873|FLJ90317|KIAA1825 protein-coding 1342911 ATP13A2 ATPase type 13A2 ATP13A2 belongs to the P-type superfamily of ATPases that transport inorganic cations and other substrates across cell membranes (Schultheis et al., 2004 [PubMed 15381061]).[supplied by OMIM] 1580863 18413573,17485642,16964263,16710414,15489334,15381061,12477932,11584046 23400 NM_022089,AL049569,CH471134,AJ009947,AK025928,AK075310,AK290210,AL354615,AL833966,AY461712,AY987009,BC030267,BC034575,CR613271 NP_071372,CAI20366,CAI20367,EAW94824,EAW94825,EAW94826,EAW94827,CAA08912,BAC11539,BAF82899,CAB89728,CAD38813,AAR23423,AAX88804,AAH30267,AAH34575,Q52PK6,Q5JXY1,Q6S9Z9,Q8N4D4,Q8NBS1,Q9NQ11 Hs.128866 HSA9947|KRPPD|PARK9|RP1-37C10.4 protein-coding 1353842 ATP13A3 ATPase type 13A3 1580863 17081983,16641997,16344560,16303743,15342556,14702039,12477932,11867234,9373149,8175911,8125298 79572 NM_024524,AC108676,AC125362,AJ306929,AK024639,AK075094,AK225064,BC037805,BC106085,BP313821,BX641098,DA852339,DR005713,DR423199,DV080200,Z24724 NP_078800,CAC84902,BAB14942,BAC11398,Q9H7F0,AAI66610 Hs.529609 AFURS1|DKFZp686K16189|FLJ90613 protein-coding 1346317 ATP13A4 ATPase type 13A4 1580863 15925480,14702039,12975309,12477932 84239 NM_032279,AC048351,AC092942,AC105057,CH471052,AK095277,AK096510,AL512736,AY358110,AY823162,BC101496 NP_115655,EAW78073,EAW78074,EAW78075,BAC04520,CAC21667,AAQ88477,AAX24102,AAI01497,Q4VNC1 Hs.674423 DKFZp761I1011|MGC126545 protein-coding 1343803 ATP13A5 ATPase type 13A5 15925480,12975309 344905 NM_198505,AC105057,CH471052,AK122613,AY358667,AY823163,BC033334 NP_940907,EAW78076,EAW78077,BAC85490,AAQ89030,AAX24103,Q4VNC0,AAI56653 Hs.658032 FLJ16025 protein-coding 735332 ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. 1579863,1580863,1579862 16723354,16710414,16708288,16498080,16243970,16230337,15515123,15489334,15383549,15069082,14993422,14759258,14685860,14597563,14555664,14522987,12788896,12671055,12477932,12461183,12093728,12031509,11926353,11832419,11509477,11404365,11139403,10516168,10473631,9481617,9159180,8918259,8833915,8391840,8082931,17446412,17176442,17081065,7775468,7711835,7536695,3036582,3035563,3030810,2891135,2887455,2842249,2430951,2158121,1970326,14743216,11027149,15671290,1975705,17446437 1579863,1579862 476 J03007,NM_001001586,AL136376,CH471122,L76938,M27572,M27579,M30310,AL531892,AY642124,AY946013,BC001330,BC003077,BC050359,BF795089,CR614469,CR622256,CR622871,M16793,NM_000701,M16794,U16798 AAA51803,NP_001001586,CAI22199,CAI22200,CAI22201,CAI22202,EAW56644,EAW56645,EAW56646,EAW56647,EAW56648,AAA92713,AAA35573,AAA35574,AAA51801,AAX55908,AAH01330,AAH03077,AAH50359,AAD56251,NP_000692,AAD56252,AAC50131,P05023,Q58I23,Q5TC01,Q5TC02,Q5TC05,Q694B2,Q9UCN1,ABM82808,ABW03450 Hs.371889 GDB:119711 MGC3285|MGC51750 protein-coding 736008 ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. 1580863,1358436,1601253,1601250,1601251,1601252,1601254 11257061,10372716,9872452,9579893,9403481,9373149,9159180,8391840,8125298,3036582,3035563,2842249,2537767,2477373,2158121,17446412,16538223,17119788,16508935,16508934,16437583,16430714,16344534,16110494,16088919,16037212,16026932,15911117,15569317,15489334,15459825,15383549,15308625,15286158,15210532,15174025,15159495,15133718,14871878,14702039,14690302,14685860,14667076,12953268,12805306,12529322,12496141,12477932,11404365,12539047,10642400,18294248,18184292,18056581,18052210,18028456,17952365,17877748,17727731,17473835 1358436,1601253,1601250,1601251,1601252,1601254 477 M16795,Y07494,NM_000702,AL121987,CH471121,J05096,M27578,AB018321,AK091617,AK124581,AK126573,AL831991,AL831997,AY946014,BC013680,BC047533,BC052271 AAA51799,CAA68793,P50993,Q58I22,Q5JW72,Q5JW73,NP_000693,CAI15271,CAI15272,CAI15273,EAW52739,EAW52740,EAW52741,EAW52742,AAA51797,AAA35575,BAA34498,AAX55909,AAH52271 Hs.34114 GDB:119712 FHM2|MGC59864|MHP2 1643514,2289625 BW260_H,BW481_H protein-coding 732644 ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. 1580863,1358437 15260953,18184478,17595045,17446412,17282997,17244347,16713569,15489334,15462673,14702039,12634653,12477932,10443882,9373149,8125298,3036582,3035563,3030810,2907504,2887455,2842249,2838329,2158121,2834163 1358437 478 BC013763,BC015566,BX478337,CB156520,CR593240,CR596494,CR602384,CR609841,CR615216,AC010616,NM_152296,CH471126,M27577,M28286,M28293,M37457,X12910,AK054736,AK094628,AK122693,AK223569,AL832884,AY946015,BC009282,BC009394 AAH15566,P13637,Q53ES0,Q58I21,NP_689509,EAW57089,AAA58380,AAA52285,AAA52286,AAA51798,CAA31390,BAD97289,AAX55910,AAH09282,AAH09394 Hs.515427 GDB:119713 DYT12|MGC13276|RDP protein-coding 733097 ATP1A4 ATPase, Na+/K+ transporting, alpha 4 polypeptide The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 7809153,12112599,16894555,16710414,16344560,16175638,15489334,14702039,12763850,12477932,12119109,10764792,10227850,3036582,3035563,2887455,2158121,1981991 480 AF506797,NM_144699,NM_001001734,AF310646,AK098076,AL833335,BC028297,BC036052,BC068570,BC094801,BX647234,CR605608,DB094047,M16796,AF352828,AF390027,AF421887,AF430843,AL121987,AY039031,CH471121,U15286,AF459737 NP_653300,NP_001001734,AAQ07964,BAC05228,AAH28297,AAH94801,AAA51800,Q13733,Q13818,Q5JW77,Q7Z4I9,AAK72396,AAM20793,AAL35818,CAI15274,CAI15275,EAW52737,EAW52738,AAA60941,AAL66357 Hs.662219 GDB:128292 ATP1A1|ATP1AL2|MGC25056 protein-coding 735774 ATP1B1 ATPase, Na+/K+ transporting, beta 1 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 2559024,16696853,16478973,16339171,16230337,15606899,11193188,7536695,7499094,3008098,2887455,2842249,2555225,2538450,2158121,1301170,16189514,15086469,14597563,12477932,12093728,11534180 481 P05026,Q58I20,Q6LEU2 NM_001677,NM_001001787,AL031726,CH471067,M25160,X17161,AA507932,AA514770,AY545986,AY946016,BC000006,BE223067,BG702024,BM762099,BQ934151,BT009787,CD106723,CD722755,CR407616,CR596103,CR622201,U16799 Q58I20,Q6LEU2,NP_001668,NP_001001787,CAI18888,EAW90832,EAW90833,AAA36352,CAA35040,AAT11781,AAX55911,AAH00006,AAP88789,CAG28544,AAC50132,P05026 Hs.291196,Hs.651246 GDB:120557 ATP1B|MGC1798 atpase na+/k+ transporting beta 1 polypeptide 1643514,2289625 BW260_H,BW481_H protein-coding 736555 ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. 1580863 12958655,11027149,2538450,16865689,15489334,15294280,12539047,12477932,11193188,10662545,9524271,9159180,8918259,8889548,8305453,7711835,2158121,1699290,1688561 482 NM_001678,AC007421,AF007876,CH471108,AK290143,AL120033,AL532023,AY946017,BC035801,BC126175,BG708115,BM664502,BM703745,BM925700,BQ718053,CD671350,D87330,M81181,U45945 NP_001669,AAC39686,EAW90147,EAW90148,BAF82832,AAX55912,AAI26176,AAA51805,AAC50873,P14415,Q58I19 Hs.643540 GDB:118756 AMOG protein-coding 733031 ATP1B3 ATPase, Na+/K+ transporting, beta 3 polypeptide The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. 1580863 17353931,8798450,17446412,17176442,17081065,15489334,14702039,12754519,12477932,12456588,9457675,6289898,2158121 483 NM_001679,XM_001133533,XM_001133534,AC112504,AF005896,CH471052,AK094673,AK131061,AY946018,BC001469,BI462090,CR595788,CR618676,U51478,BC011835 NP_001670,XP_001133533,XP_001133534,AAB61713,EAW78982,EAW78983,EAW78984,EAW78985,EAW78986,EAW78987,EAW78988,EAW78989,AAX55913,AAH11835,AAC50665,P54709,Q58I18 Hs.477789 GDB:6275878 ATPB-3|CD298|FLJ29027 protein-coding 1348014 ATP1B3P1 ATPase, Na+/K+ transporting, beta 3 pseudogene 9457675 484 NG_000849,AC012498,AF005898 AAB61675 GDB:6383265 pseudo 736275 ATP1B4 ATPase, (Na+)/K+ transporting, beta 4 polypeptide 631939,1580863 10456317,16430714,15489334,12477932 631939 23439 NM_012069,AC006962,CH471107,AF158383,AF158384,BC117227 NP_036201,EAX11885,EAX11886,AAD49692,AAD49693,AAI17228,Q9UN42 Hs.662608 GDB:9956559 protein-coding 1352922 ATP1BL1 ATPase, Na+/K+ transporting, beta polypeptide-like 1 2842249,2559024 485 NG_001081,AC113151,M25159 GDB:119715 pseudo 731640 ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. 734618 9405806,8729696,9295312,12479237,8841193,17728322,17010426,16933204,16754798,16642550,16410239,16192278,15972723,15718407,15767202,14702039,14638697,12975374,12692302,12525698,12477932,11526231,11438520,10914677,10551848,9642673,9575189,9367679,8889548,8825625,2936465,2842876,1746562,14743216 734618 487 NM_004320,NM_173201,AC109460,AC133550,CH471267,U96773,U96781,AK092691,AK128456,AK291314,BC037354,BC104452,BC104453,BU737186,BX537389,BX537784,BX647365,BX647366,BX647367,BX647368,BX648544,BX649072 NP_004311,NP_775293,EAW52006,AAB53112,AAB53113,BAF84003,AAH37354,CAD97631,CAD97841,O14983,Q7Z675,Q7Z6E5,Q8N3X5,AAI48654 Hs.657344 GDB:119716 ATP2A|SERCA1 protein-coding 731733 ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in two transcript variants encoding different isoforms. 734619 12804600,2844796,10080178,18164028,18071073,17635506,17597815,17588601,17526652,17515962,17439322,17395056,17257557,17234728,17116488,17081983,17009399,16987514,16973504,16965263,16958257,16899508,16766529,16754798,16675202,16669348,16552539,16410239,16402920,16368801,15927817,15718407,15582584,15489334,15316170,15302935,15215242,15186327,14749390,14702039,14638697,12975374,12925205,12805933,12670936,12659872,12542527,12479238,12477932,12072062,11945024,11854448,11725862,11526231,11402072,11244492,11121153,10809745,10441325,10441324,10441323,9788433,9295312,8406504,7929371,16189514,17353931,14743216,15489859 734619 488 NM_001681,NM_170665,NG_007097,AC006088,CH471054,M23116,M23278,AK000300,AK095382,BC035588,BC065753,BG773489,BI553880,BX648282,M23114,M23115 NP_001672,NP_733765,EAW97902,EAW97903,EAW97904,EAW97905,EAW97906,EAW97907,AAA52757,AAA52758,AAH35588,AAA53193,AAA53194,P16615 Hs.506759 GDB:119717 ATP2B|DAR|DD|DKFZp686P0211|FLJ20293|FLJ38063|MGC45367|SERCA2 protein-coding 732893 ATP2A3 ATPase, Ca++ transporting, ubiquitous This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. 68726 8809064,17353931,18068335,16973504,16725111,16410239,16250893,15972967,15489334,15028735,12665801,12540840,12524443,12503734,12477932,12207029,11986315,11956212,9843705,9593748,8288608 68726 489 NM_174957,NM_174956,NM_174958,NM_174953,NM_174955,NM_174954,AC005940,CH471108,NM_005173,Y15737,Y15738,Z69880,AF068220,AF068221,AF458228,AF458229,AK292716,AY460339,BC035729,S68239,Y15724,Z69881 NP_005164,NP_777617,NP_777616,NP_777618,NP_777613,NP_777615,NP_777614,EAW90460,EAW90461,EAW90462,EAW90463,EAW90464,EAW90465,EAW90466,EAW90467,EAW90468,EAW90469,EAW90470,CAA75739,CAA75747,CAA75748,CAA93736,AAC24525,AAC24526,AAL78967,AAL78968,BAF85405,AAR15415,AAH35729,AAB29700,CAA93737,Q6JHX1,Q93084,ABM84243,ABW03610 Hs.513870 GDB:133715 SERCA3 protein-coding 732984 ATP2B1 ATPase, Ca++ transporting, plasma membrane 1 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 8396145,17081983,16933204,16669348,16488415,16412504,16328033,15911623,15101689,12851406,12784250,12477932,11786550,11152753,10748016,10493800,9110174,9020386,8889548,8634322,8619474,8386431,8245032,7989379,7694502,2844759,2548572,2528729,1827443,1674727,1332771 490 NM_001682,NM_001001323,AC025034,AC068641,CH471054,L14561,M25824,AB208896,AF070606,AK024895,AK027053,AY740526,BC015346,BM974301,CR598557,CR624114,DQ201776,J04027,M95541,M95542,S49852,U15686,U15687 NP_001673,NP_001001323,EAW97429,EAW97430,EAW97431,EAW97432,EAW97433,EAW97434,AAD09924,AAD09925,AAA58381,AAA58382,AAA58383,BAD92133,AAV41065,AAH15346,ABG24240,AAA74511,AAA35999,AAA36000,AAB24324,AAA60983,AAA60984,P20020,Q3L582,Q58F24,Q59H63 Hs.506276 GDB:127283 PMCA1|PMCA1kb protein-coding 736839 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 1313367,11259493,15829536,15765049,9668038,11152753,9697703,8634322,8428366,8245032,8187550,8162598,7989379,1827443,1427863,17488275,17234811,16216224,15926914,15101689,12784250,12763866,12624087,12477932,12107410,11786550,11274188 491 NM_001001331,AC022384,AC090841,CH471055,S95783,AA197323,AB210008,AL134596,BC019853,BC128575,BX489007,CA391502,CK023951,DQ201777,DQ201778,NM_001683,L00620,L20977,M97260,R53305,S95738,S95743,S95758,U15688,X63575 NP_001674,NP_001001331,EAW64079,EAW64080,EAW64081,EAW64082,EAW64083,EAW64084,AAZ04475,BAE06090,AAI28576,ABG24241,ABG24242,Q01814,Q4J696,Q4J697,Q4J698,Q4J699,Q4LE63,AAA51893,AAA50877,AAA36456,AAA08378,AAA08377,AAA08376,AAA60985,CAA45131 Hs.268942 GDB:132584 PMCA2|PMCA2a|PMCA2i protein-coding 731628 ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 8765088,15101689,14702039,12784250,12477932,11152753,10854409,8889548,8634322,8245032,8187550,7989379,1531651 492 NM_021949,NM_001001344,AF060496,AF274858,CH471172,AK090838,AK094500,AK130194,BC047580,BC130009,BG739902,BM680649,BM695792,BM805938,BM986989,BQ878721,BU183973,BU790224,BU790521,DQ201779,U15689,U15690,U57971,U60414 NP_068768,NP_001001344,AAC15078,EAW72858,EAW72859,EAW72860,BAC85302,AAI30010,ABG24243,AAA60986,AAA60987,AAB09762,AAB38530,Q16720,Q6ZP23 Hs.533956,Hs.658008 GDB:132861 PMCA3|PMCA3a protein-coding 1348952 ATP2B4 ATPase, Ca++ transporting, plasma membrane 4 The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 2137451,10748016,17957572,17883705,17393022,17242280,16978418,16973504,16412504,16381901,16216224,16080782,15955804,15489336,15292209,15145946,15133509,15101689,12944246,12784250,12540962,12511555,12477932,11751908,11591728,11274188,11230166,11152753,11076863,9880546,9182531,9105688,8700162,8670083,8634322,8245032,7989379,7945253,2966397,2963820,1674727,1531651,1313367,12763866,9430700 493 NM_001001396,NM_001684,AC114402,AL513343,CH471067,AK026443,AK292458,AL601702,AL706212,BC062445,BC140774,BC150293,BF740130,BX537444,BX537745,BX647701,CR614539,CR622884,CR749393,CR936708,DQ201780,DQ201781,M25874,M83363,U42026,U42061,U42062,U42378 NP_001001396,NP_001675,EAW91483,EAW91484,EAW91485,EAW91486,EAW91487,BAF85147,AAI40775,AAI50294,CAD97686,CAH18241,ABG24244,ABG24245,AAA50819,AAA36455,AAB17577,AAB17578,AAB17579,AAB17580,P23634,Q0JTD1,Q0JTF8,Q5T0B2,Q5T0B3,Q68DH9,Q7Z3S1,CAL38204,CAL38232 Hs.343522 GDB:127284 ATP2B2|DKFZp686G08106|DKFZp686M088|MXRA1|PMCA4|PMCA4b|PMCA4x protein-coding 733912 ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863,704409 12810057,10615129,12761501,14632183,14632182,11741891,12804581,18211433,17911984,17503064,16644186,16621454,16540292,16484827,16332677,16303743,16297192,16192278,15955096,15811949,15623514,15545997,15489334,15336968,15191544,14747290,14702039,12707275,12477932,11966689,11874499,11841554,11124703,10767338,10718198,7981684 704409 27032 NM_001001486,NM_001001487,NM_001001485,NM_014382,NG_007379,AC055733,CH471052,AB037768,AB209265,AF181120,AF181121,AF189723,AF225981,AJ010953,AK001684,AK074692,AL833453,AY268374,AY268375,BC028139,BU188061,CR596337,CR615088,CR620213 NP_001001486,NP_001001487,NP_001001485,NP_055197,EAW79217,EAW79218,EAW79219,EAW79220,BAA92585,BAD92502,AAF26295,AAF26296,AAF27813,AAF35375,CAA09425,BAA91835,BAC11142,AAP30008,AAP30009,AAH28139,P98194,Q59G44,ABW03701 Hs.584884 GDB:10796903 ATP2C1A|BCPM|HHD|KIAA1347|PMR1|SPCA1|hSPCA1 atpase, ca++-sequestering protein-coding 732511 ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 16332677,15831496,14702039,9734811,15677451 9914 NM_014861,AC010551,AC022165,CH471114,AB014603,AK025424,AK091051,AK092737,AY791884,BX648333,CR749829 NP_055676,EAW95483,EAW95484,EAW95485,BAA31678,AAV54193,CAI46049,CAH18686,O75185,Q5HYC3,Q5S053,Q68CQ2,AAI56685 Hs.6168 DKFZp686H22230|KIAA0703|SPCA2 protein-coding 1353349 ATP3 ATPase, Mg++ transporting 494 GDB:118757 734000 ATP4A ATPase, H+/K+ exchanging, alpha polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. 1580863 2160952,15962365,15057824,14743830,10336993,9373149,9017763,8279517,8125298,3036582,2176086,1330887 495 NM_000704,AC002389,AD000090,J05451,M27575,M63962,AK058032,AK223259,AL832971 NP_000695,AAB64182,AAB50172,AAA51010,AAA35577,AAA35988,BAD96979,CAH56338,P20648,Q53FM3,Q658V6 Hs.36992 GDB:125183 ATP6A protein-coding 737185 ATP4B ATPase, H+/K+ exchanging, beta polypeptide The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. 1580863,1300048 1656976,16341674,15489334,15155714,14743830,14685860,12651853,12477932,10722662,10336993,9315713,9017763,7900835,2160952,1335958,11865975 496 NM_000705,XM_001133764,AB008783,AL442125,BX537316,CH471085,BC029059,BC042846,BM782259,BM923761,M75110 NP_000696,XP_001133764,BAA23425,CAM28358,EAX09220,EAX09221,AAH29059,AAA35987,P51164,ABM81743,ABM84899 Hs.434202 GDB:136045 ATP6B atpase, h+/k+ transporting, beta polypeptide protein-coding 734400 ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the same protein have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. 1300048,1580863 12110673,17643490,10077593,11410595,1830491,4517936,16714292,16378738,16344560,15952740,15862967,15489334,15324660,14749816,14702039,12614671,12477932,11741979,11381144,9834036,9461222,9284928,8428659,8168843,8086450,8065448,7498159,1602151,14743216 498 NM_001001937,AC012569,CH471088,D28126,AK092735,AK098765,AK129739,AK129804,AK129900,AK289457,AU120644,AU143001,AW205533,BC003119,BC007299,BC008028,BC011384,BC016046,NM_004046,BC019310,BC028335,BC035703,BC039135,BC042694,BC064562,BC067385,BT007209,CD244623,CR590562,CR590601,CR591138,CR591462,CR592611,CR593595,CR594006,CR594700,CR597477,CR597489,CR599938,CR601229,CR604007,CR604077,CR604755,CR607960,CR608051,CR609069,CR609904,CR609973,CR610155,CR611390,CR613857,CR614555,CR617088,CR617331,CR617650,CR617880,CR622375,CR625409,CR625663,CR626480,CR626813,D14710,X59066,X65460 NP_001001937,EAX01471,BAA05672,BAF82146,AAH03119,AAH07299,AAH08028,AAH11384,AAH16046,NP_004037,AAH19310,AAH39135,AAH64562,AAH67385,AAP35873,BAA03531,CAA41789,CAA46452,P25705,AAP36942,ABM92174,ABM85136 Hs.298280 GDB:137185 ATP5A|ATP5AL2|ATPM|MOM2|OMR|ORM|hATP1 mitochondrial h+-atp synthase alpha subunit protein-coding 1346333 ATP5A2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle 1830491 499 GDB:137186 1354259 ATP5AL1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle-like 1 500 GDB:434302 1350409 ATP5AP1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 1 9284928 503 GDB:6175922 1352266 ATP5AP2 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 2 9284928 504 GDB:6175924 1343558 ATP5AP3 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 3 9284928 505 GDB:6175925 1346824 ATP5AP4 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, pseudogene 4 493822 1344847 ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. 1580863 15242332,14749816,12511957,12477932,12206899,11790298,9834036,9461222,8065448,7798271,2896550,1602151,14499622,16189514,12110673,17643490,10077593,17510399,11410595,2870059,4517936,2687158,2900241,18284036,16996794,16927672,16890199,16751257,16236267,16230521,15952740,15635413,15489334,15324660 506 NM_001686,AC090681,CH471054,M19483,M27132,AK291085,BC016512,BI561028,CR590194,CR590902,CR591449,CR593868,CR594107,CR594490,CR595274,CR595373,CR595794,CR596818,CR596952,CR597508,CR597668,CR600201,CR600712,CR600999,CR601166,CR602257,CR602930,CR603704,CR604659,CR605104,CR605146,CR605250,CR605460,CR605483,CR607664,CR607778,CR608124,CR608193,CR609186,CR609212,CR609220,CR609559,CR611259,CR611415,CR611417,CR611938,CR612886,CR612947,CR613316,CR613578,CR613796,CR614182,CR614784,CR615169,CR615488,CR615631,CR615964,CR616381,CR617438,CR617726,CR619267,CR619766,CR619791,CR620227,CR621061,CR621144,CR621538,CR603074,CR622605,CR623584,CR623765,CR623794,CR624353,CR624581,CR624633,CR624825,CR624993,CR625069,CR625161,CR625698,CR626365,CR626584,CR626774,DQ403107,X05606,CR621900 NP_001677,EAW96952,AAA51808,AAA51809,BAF83774,AAH16512,ABD77240,CAA29095,P06576,Q0QEN7,ABM82511,ABM85705 Hs.406510 GDB:119718 ATPMB|ATPSB|MGC5231 protein-coding 1346159 ATP5BL1 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 1 7798271 507 GDB:119719 1342586 ATP5BL2 ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 508 GDB:119720 732616 ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. 631859,1300048,1580863 12110673,8227057,4517936,12887009,17686786,16169070,15489334,15164054,14749837,14749816,12477932,11744705,11533724,9834036,9657145,9461222,8168843,8065448 631859 509 NM_001001973,NM_005174,AL158044,AL353754,CH471072,D16561,AK292896,BC000470,BC000931,BC010380,BC013394,BC013865,BC016812,BC020824,BC026049,BQ893894,CR457403,CR595574,CR606908,CR611688,CR612179,CR616512,CR619950,CR621366,D16562,D16563 NP_001001973,NP_005165,CAI12960,CAI12961,EAW86372,EAW86373,BAA03994,BAA03995,BAF85585,AAH00470,AAH00931,AAH13394,AAH16812,AAH20824,AAH26049,CAG33684,BAA03996,BAA03997,P36542,Q6I9V2,Q8TAS0 Hs.271135 GDB:137187 ATP5C|ATP5CL1 protein-coding 1345569 ATP5C2 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 2 631859 8168843 631859 56689 NG_004656,AL138479 GDB:217058 ATP5CL2 pseudo 1353040 ATP5D ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. 1580863 4517936,12887009,15489334,15057824,14749837,14749816,14702039,12477932,11533724,9834036,9657145,1286669,12539966,12110673,1531933 513 CR593219,CR602770,CR603905,CR605033,CR614907,CR626390,S87916,S87918,X63422,X63423,NM_001687,NM_001001975,AC004221,CH471139,AK094357,BC002389,BC004426,BC018079,BC018817,BC050458,BC058927,CR542218 AAA08055,ABB76284,CAA45016,CAA45017,P30049,Q6FG90,CAG47014,NP_001678,NP_001001975,AAC04304,EAW69531,EAW69532,EAW69533,EAW69534,AAH02389,AAH04426,AAH18079 Hs.418668 GDB:132360 protein-coding 1346801 ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. 1302227,1580863 9461222,2137333,12110673,4517936,15489334,14749816,12477932,11780052,11173840,10931946,10727396,9834036 1302227 514 NM_001001977,NM_006886,AL109840,CH471077,AF052955,AF077045,AK026556,BC001690,BC003671,BC070167,BC105811,BT007293,CB106920 NP_001001977,NP_008817,CAC09372,EAW75444,EAW75445,EAW75446,AAF72736,AAD27778,AAH01690,AAH03671,AAI05812,AAP35957,P56381 Hs.177530 GDB:137188 ATPE|MGC104243 protein-coding 1344555 ATP5EP1 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1 1302227 10727396 1302227 23744 NG_002691,AC004066,AF277095 GDB:10450573 pseudo 2291819 ATP5EP2 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 432369 NR_002162,AL591024 CAH70632 pseudo 736319 ATP5F1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. 1300048,1580863 15489334,14749816,12477932,11827452,9834036,12110673,17353931,1831354,2868890,9461222,9373149,8125298,7706317,2883974,16710414 515 NM_001688,AL390195,CH471122,AI754631,AK223018,AK291077,AW385236,AW778751,AY871272,BC005366,BC005960,BC016350,BF237506,CR595441,CR597718,CR598017,CR600353,CR603818,CR606746,CR608175,CR609947,CR612409,CR614214,CR623373,CR624650,CR626393,CR626581,X60221 NP_001679,CAC36042,CAI15628,EAW56495,EAW56496,BAD96738,BAF83766,AAX11428,AAH05366,AAH05960,AAH16350,CAA42782,P24539,Q08ET0,Q53GB3,Q5QNZ2 Hs.514870 GDB:137189 MGC24431|PIG47 atp synthase, h+ transporting, mitochondrial f0 complex, subunit b, isoform 1 protein-coding 1348420 ATP5G1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. 1580863 8328972,16381901,15906478,15489336,15489334,14749816,14702039,12477932,11230166,11076863,9834036,9461222,8889548,8485160,7698763,2883974 516 BC004963,BF573360,BG611396,BT007230,BU596803,CF129854,CR533449,D13118,M16453,NM_005175,NM_001002027,AC091133,CH471109,X69907,AK095669,AL080089 AAH04963,AAP35894,CAG38480,BAA02420,AAA51806,P05496,Q6FIH7,CAL38315,NP_005166,NP_001002027,EAW94705,EAW94706,CAA49532,CAB45704 Hs.80986 GDB:137190 ATP5A|ATP5G atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9), isoform 1 protein-coding 736098 ATP5G2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. 1300048,1580863 8328972,16303743,15489334,14749816,12477932,11329013,9834036,9461222,8485160,7706317,7698763,2883974 517 NM_001002031,NM_005176,AC073594,CH471054,X69908,AK075351,AK130971,AV737582,BC013839,BC020826,BF337574,BG217012,BQ682406,BX348847,CR593432,CR608750,CR624102,D13119,H83751 NP_001002031,NP_005167,EAW96725,EAW96726,CAA49533,AAH20826,BAA02421,Q06055,ABM82293,ABM85473 Hs.524464 GDB:373090 atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9), isoform 2 protein-coding 734314 ATP5G3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. 1300048,1580863 14667819,7698763,15815621,15489334,14749816,12477932,9834036,9461222,8328972,2883974 518 NM_001689,NM_001002258,AC096649,CH471058,AK125917,AW025164,BC106881,BF210704,BI756002,BQ054164,CA424417,CR407601,CR589983,CR599628,CR623785,U09813 NP_001680,NP_001002258,AAX88970,EAX11105,EAX11106,EAX11107,AAI06882,CAG28411,AAA78807,P48201,Q6LEU9 Hs.429 GDB:375306 MGC125738|P3 atp synthase, h+ transporting, mitochondrial f0 complex, subunit c (subunit 9) isoform 3 protein-coding 1354351 ATP5GP1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 1 8328972 520 NG_005472,AC092810,X69909 GDB:373108 pseudo 1344994 ATP5GP2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 2 319119 NG_002500,AL512361 ATP5G2P2 pseudo 1347596 ATP5GP3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 3 319136 NG_002514,AL928742 pseudo 1351129 ATP5GP4 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) pseudogene 4 319137 AL139353,NG_002515 pseudo 1351705 ATP5H ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the F0 complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. 1580863 12745923,12628343,12477932,12471886,11042152,9834036,9461222,7509337,12110673,15489334,14749816,14702039 10476 NM_001003785,NM_006356,AC087651,CH471099,AA608885,AF061735,AF070650,AF086159,AF087135,AK095671,BC029392,BC032245,BC038092 NP_001003785,NP_006347,EAW89228,EAW89229,AAG43146,AAD20956,AAC36338,AAH29392,AAH32245,AAH38092,O75947 Hs.514465 GDB:137191 ATP5JD|ATPQ protein-coding 1350783 ATP5I ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the F0 complex. 1580863 12110673,18060860,16682002,15489334,14749816,12745923,12628343,12477932,12471886,11939412,10409428,9834036,9461222,8702853 521 NM_007100,AC107464,CH471131,AB028624,AK000656,BC003679,BC017215,BC105610,BF215596,BG943252,BT006922,D50371 NP_009031,EAW82660,BAA78778,AAH03679,AAI05611,AAP35568,BAA23322,P56385,Q9Y6W4,AAP36676 Hs.85539 GDB:137192 ATP5K|MGC12532 protein-coding 735304 ATP5J ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the F0 complex, required for F1 and F0 interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. 1300048,1580863 11230166,10830953,9834036,9732751,9461222,7698763,1286669,12471886,12110673,1830479,1825642,17456993,16230521,15785006,15709156,15489334,14749816,14633154,12745923,12628343,12477932 522 NM_001003703,NM_001003701,NM_001685,NM_001003696,NM_001003697,AP000226,CH471079,AI085837,AL110183,AY544129,BC001178,BC066310,BG938438,BI093033,BQ268216,BT007244,BU174560,CR456950,M37104,M73031 NP_001003703,NP_001003701,NP_001676,NP_001003696,NP_001003697,EAX09970,EAX09971,EAX09972,EAX09973,EAX09974,EAX09975,CAB53667,AAT11160,AAH01178,AAH66310,AAP35908,CAG33231,AAA51807,AAA58630,P18859,Q6IB54,Q6NZ59 Hs.246310 GDB:127519 ATP5|ATP5A|ATPM|CF6|F6 protein-coding 1345847 ATP5J2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the F0 complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. 1298632,1580863 12110673,11959398,16169070,15489334,14749816,14702039,12745923,12690205,12628343,12477932,12471886,11042152,9834036,9653160,9461222,9373149,8125298 1298632 9551 NM_001003714,NM_004889,NM_001039178,NM_001003713,AC073063,CH236956,CH471091,CS072281,AF047436,AF088918,AK094388,AK123419,AK223348,AY046911,BC003678,BE139254,BU587946,CB155273,CR456891,CR542155 NP_001003714,NP_004880,NP_001034267,NP_001003713,EAL23877,EAW76661,CAI93419,AAC39887,AAC34895,BAC85612,BAD97068,AAL06647,AAH03678,CAG33172,CAG46952,P56134,Q53FE1,Q6IBB3,Q6ZW92 Hs.521056,Hs.656515 GDB:9957322 ATP5JL atp synthase, h+ transporting, mitochondrial f0 complex, subunit f, isoform 2 protein-coding 1354458 ATP5J2LP ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2-like pseudogene 10830953 54100 NG_000931,AP000694,AP001725 GDB:10796273 pseudo 1346132 ATP5J2P2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 2 387107 NG_004672,AL445189 bA249L21.4 pseudo 1343122 ATP5J2P3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2 pseudogene 3 445573 1642107 ATP5J2P4 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 4 654485 NG_005476,AC138744 pseudo 1642108 ATP5J2P5 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 5 654484 NG_005477,AC006057 pseudo 1642106 ATP5J2P6 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2 pseudogene 6 654486 NG_005475,AC011276 pseudo 1352647 ATP5L ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The F0 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the F0 complex. 1580863 12110673,17353931,16381901,15489336,15489334,14749816,12745923,12628343,12477932,12471886,11230166,11076863,11042152,9834036,9461222 10632 AP001267,CH471065,AA258888,AF070655,AF087846,AF092124,AI337729,AK289568,AL050277,BC015128,BC070165,CR533494,NM_006476,CR542211 NP_006467,EAW67376,AAD20961,AAP97159,AAC61597,BAF82257,CAB43378,AAH15128,AAH70165,CAG38525,CAG47007,O75964,Q0JSX4,Q0JU69,CAL37942,CAL38390 Hs.486360 GDB:11499909 ATP5JG protein-coding 1344612 ATP5L2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene 1580863 15489334,12477932,10361692 267020 NG_004718,Z93241,AF092923,BC093719,BC093721 AAP97217,AAH93719,AAH93721,Q7Z4Y8 Hs.664737 GDB:11510881 ATP5K2|dJ222E13.5 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2|atp synthase, h+ transporting, mitochondrial f0 complex, subunit g, isoform 2 pseudo 1350659 ATP5LP1 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 1 53411 NG_004834,AF261721,AP006289 GDB:11508607 ATP5KP1|ATPE5KP1 pseudo 1353372 ATP5LP2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 2 53410 NG_005040,AF261722,AL732431 GDB:11508608 ATP5KP2 pseudo 1344028 ATP5LP3 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, pseudogene 3 53409 NG_005043,AC114777,AF261723 GDB:11508609 ATP5KP3|ATPE5KP3 pseudo 1348097 ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (oligomycin sensitivity conferring protein) The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. 1580863 12110673,15850986,7490082,17851741,15489334,14702039,12665801,12477932,10830953,9373149,8125298 539 NM_001697,AP000313,CH471079,AF088071,AK093795,AK124187,AK222608,AK222962,AV734214,AW518473,BC021233,BC022865,BT019836,CD174837,CR456822,X83218 NP_001688,EAX09802,EAX09803,EAX09804,BAD96328,BAD96682,AAH21233,AAH22865,AAV38639,CAG33103,CAA58219,P48047,Q53HH2 Hs.409140 GDB:545472 ATPO|OSCP protein-coding 1343474 ATP5S ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B) This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 6143319,16806233,14749816,12745923,12628343,12477932,12471886,11744738,9834036,9461222,9110174,8619474 27109 NM_001003803,NM_001003805,NM_015684,AL359397,CH471078,AF052186,AF390029,AK290008,AY052377,BC011549,BC087851,BG699167,BI755956,CD517203,U79253 NP_001003803,NP_001003805,NP_056499,EAW65718,EAW65719,EAW65720,EAW65721,EAW65722,EAW65723,AAL58839,BAF82697,AAL13058,AAH11549,AAB50202,Q8WXQ4,Q96F77,Q99766 Hs.438489 ATPW|HSU79253 protein-coding 1605674 ATP5SL ATP5S-like 14702039,12477932 55101 NM_018035,AC011526,CR624228,CR626837,AK001103,AK123631,BC013323,CR591772,CR592886,CR595537,CR596470,CR600035,CR602095,CR603068,CR603164,CR603891,CR607677,CR611706,CR611924,CR617693,CR619852,CR619861,CR620613,CR622373,CH471126 NP_060505,Q9NW81,EAW57044,EAW57045,BAA91503,BAC85667,AAH13323,EAW57042,EAW57043 Hs.351099 FLJ10241 protein-coding 733467 ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1 This gene encodes a component of a multisubunit enzyme (1 mDa MW) that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene is approximately 45 kD and may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. 1300048,1580863 8733135,16381901,16344560,16303743,15489336,15489334,14702039,12477932,11983866,11923311,11076863,10440860,10340843,10336633,10224039,10221984,9442887,9210392,8281148,8034313 537 NM_001183,BX936347,BX936385,CH471172,AK026519,AK075284,AK090462,AK091083,AK130616,AK289452,AL136851,BC000724,BC109247,BX461330,CR592659,CR608354,CR613808,CR615694,CR625568,D16469,DA921677 NP_001174,CAI43213,CAI95782,CAQ06667,EAW72712,EAW72713,EAW72714,EAW72715,BAC11520,BAC03443,BAF82141,CAB66785,AAH00724,AAI09248,BAA03938,Q0JRW7,Q15904,Q32M95,Q8NBT4,Q8NF19,Q9H0C7,CAL38190,CAL38747,ABM83065,ABM86259,CAL37445 Hs.6551 16A|ATP6IP1|ATP6S1|Ac45|CF2|MGC129781|VATPS1|XAP-3|XAP3 atpase, h+ transporting, lysosomal (vacuolar proton pump), subunit 1 protein-coding 1346001 ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. 1580863 12045255,15746149,16374430,17494887,17082479,16807542,16401765,16303743,15489334,12477932,11782983,11590366,10931946,9556572 10159 AC092473,AF354120,CH471141,AF109363,AF248966,AF291814,AK075382,AL049929,AY038990,AY429341,BC010395,BC084541,Y17975,NM_005765 NP_005756,AAL11062,EAW59424,AAQ13511,AAG44564,AAM47531,BAC11582,CAB43210,AAK83467,AAR06910,AAH10395,AAH84541,CAA76984,O75787,Q96PH0 Hs.700634 APT6M8-9|ATP6IP2|ATP6M8-9|ELDF10|HT028|M8-9|MGC99577|MRXE|MSTP009|XMRE protein-coding 1605737 ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. The occurrence of splice variants encoding different protein products has been reported, but the full-length natures of these transcripts have not been determined. 12649290,17081065,15489334,14597263,14580332,12788495,12643545,7774924,1704894,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9373149,9210392,8125298 535 NM_005177,AC067852,AC107993,CH471152,AK223554,AL096733,AL137683,BC017826,BC032398,BX648978,CR624032,CR627443,L78933,U18920,Z71460 NP_005168,EAW60830,EAW60831,BAD97274,CAB70874,AAH32398,CAI56709,CAH10528,AAL77442,AAA69700,CAA96077,Q13058,Q53ET5,Q53X12,Q5CZH6,Q6AHY6,Q93050 Hs.463074 GDB:125314 ATP6N1|ATP6N1A|DKFZp781J1951|Stv1|VPP1|Vph1|a1 protein-coding 1320849 ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 The multisubunit vacuolar-type proton pump (H(+)-ATPase or V-ATPase) is essential for acidification of diverse cellular components, including endosomes, lysosomes, clathrin-coated vesicles, secretory vesicles, and chromaffin granules, and it is found at high density in the plasma membrane of certain specialized cells. H(+)-ATPases are comprised of a peripheral V(1) domain and an integral membrane V(0) domain; ATP6V0A2 is a component of the V(0) domain (Smith et al., 2003 [PubMed 14580332]).[supplied by OMIM] 1580863 16415858,2247090,18157129,17295899,17081983,15373763,15358640,15301855,14702039,14597263,14580332,12788495,12477932,11836511 23545 AC117503,CH471054,AF112972,AK056800,AK289391,BC000826,BC022300,BC068531,BG106215,BG167832,BG759946,BI562012,BQ050095,BX328381,CB960860,CD654920,NM_012463 NP_036595,EAW98434,AAD04632,BAF82080,AAH22300,AAH68531,Q8TBM3,Q9Y487 Hs.201939 GDB:11505651 ARCL|ATP6N1D|ATP6a2|J6B7|Stv1|TJ6|TJ6M|TJ6s|Vph1|WSS|a2 protein-coding 1312856 ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. 1599383,1580863 12649290,12414817,10973252,14638902,16344560,14702039,14597263,14580332,12788495,12690205,12477932,11836511,10600682,10577919,10440860,10340843,10224039,10221984,9442887,9210392 1599383 50617 NM_130840,NM_020632,NM_130841,AC018663,AC020983,AF249874,CH236950,CH471070,AF245517,AK055789,AK292945,BC109304,BC109305,DA857655,DB230144 NP_570855,NP_065683,NP_570856,EAL24043,EAW83892,EAW83893,EAW83894,EAW83895,EAW83896,EAW83897,AAG11415,BAB71014,BAF85634,AAI09305,AAI09306,Q32M47,Q96N91,Q9HBG4 Hs.98967 GDB:10795932 A4|ATP6N1B|ATP6N2|MGC130016|MGC130017|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2 protein-coding 1317997 ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human counterpart of yeast VMA16. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. 1580863 9653649,17576770,15489334,15249206,14597263,14580332,12890556,12788495,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392 533 CH471059,AI439545,BC000423,BC005876,BC042664,BC053601,BG475609,BG831921,BI770034,BT007151,CR456972,CR591603,CR596289,CR599148,CR601146,CR613387,CR615700,CR621763,D89052,L05089,NM_004047,NM_001039457,AB045777,AL357079 CAI16801,EAX07066,EAX07067,EAX07068,EAX07069,AAH00423,AAH05876,AAP35815,CAG33253,BAA13753,AAC15853,Q16467,Q6IB32,Q8NHD8,Q99437,NP_004038,NP_001034546,BAC02927 Hs.632406 GDB:6407112 ATP6F|HATPL|VMA16 protein-coding 731892 ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is part of the V0 domain. This gene had the previous symbols of ATP6C and ATP6L. 1300048,1580863 8741845,8250920,7636472,1532310,16189514,1709739,11543633,15489334,15466867,14597263,14580332,12788495,12477932,12438748,11836511,10440860,10340843,10224039,10221984,9442887,9210392 527 NM_001694,AB046575,AC093525,CH471112,BC004537,BC007389,BC007759,BC009290,BI548787,BT007155,CR541930,CR541951,CR590083,CR592150,CR592409,CR597229,CR599309,CR599331,CR600796,CR601237,CR603009,CR608280,CR613683,CR616464,CR616665,CR622720,M62762 NP_001685,BAC06442,EAW85501,AAH04537,AAH07389,AAH07759,AAH09290,AAP35819,CAG46728,CAG46749,AAA60039,P27449,Q6FH26,Q8NHD7 Hs.389107 GDB:128131 ATP6C|ATP6L|ATPL|VATL|Vma3 protein-coding 1314615 ATP6V0D1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. 1300048 16713569,15489334,14702039,14597263,14580332,12788495,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392,8889548,8250920,2903164,11118322 9114 NM_004691,AC009061,CH471092,AK128641,BC008861,BI552108,BM677562,CR591810,CR594427,CR595600,CR597772,CR599242,CR599418,CR601254,CR602420,CR602697,CR606968,CR607021,CR609191,CR609995,CR613366,CR614575,CR615039,CR617838,CR618424,CR619069,CR620569,CR622440,CR624642,L05087,X71490 NP_004682,EAW83135,EAW83136,AAH08861,AAC15852,CAA50591,P61421,ABM84196,ABM87600 Hs.106876 GDB:9955069 ATP6D|ATP6DV|P39|VATX|VMA6|VPATPD atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 1 protein-coding 1315777 ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 1300048,1580863 14702039,14597263,14580332,12788495,12477932,12384298,11836511 245972 NM_152565,AC023194,AC084128,CH471060,AK096027,AY079172,BC065207 NP_689778,EAW91631,EAW91632,BAC04679,AAL87000,AAH65207,Q8N8Y2 Hs.436360 GDB:11505514 ATP6D2|FLJ38708|VMA6 atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2 protein-coding 1350958 ATP6V0E1 ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. 1580863 9556572,17576770,15906478,15489334,14970230,14597263,14580332,12788495,12477932,12163484,11836511,10440860,10340843,10224039,10221984,9442887,9210392 8992 NM_003945,AC008429,CH471062,AI198465,BC119714,BC119715,BF691381,CR456856,CR542131,CR594596,CR599928,CR613914,CR617216,CR623335,CR624621,Y15286 NP_003936,EAW61417,EAW61418,AAI19715,AAI19716,CAG33137,CAG46928,CAA75571,O15342 Hs.484188 GDB:9958045 ATP6H|ATP6V0E|M9.2|Vma21|Vma21p protein-coding 1606137 ATP6V0E2 ATPase, H+ transporting V0 subunit e2 Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM] 17350184,16303743,14702039,12477932,9847074 155066 NM_145230,NM_001100592,AC093458,CH471146,CR606342,AA912295,AF452639,AK057700,AK094602,AK098362,AK172725,AK290086,AY037164,BC015899,BX640846,CR591680,CR592252,CR596044,CR597079,CR597181,CR597900,CR597990,CR598486,CR598722,CR601578,CR602705,CR603296,CR603936,CR603978,CR603983,CR604229,CR604828,CR607433,CR607551,CR608015,CR613139,CR614296,CR614326,CR615323,CR618284,CR623395,CR623940,CR625824,DB544557,DQ989009,DQ995344 NP_660265,NP_001094062,AAQ96859,EAW80020,EAW80021,EAW80022,EAW80023,AAP97693,BAC05292,BAF82775,AAK67647,AAH15899,CAE45916,ABK88279,ABK76305,Q7Z4R7,Q8NHE4,Q96B83 Hs.556998 ATP6V0E2L|C7orf32 protein-coding 1323585 ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. 1580863 17576770,15952740,15489334,14597263,14580332,12788495,12477932,11991713,11836511,11741979,10931946,10440860,10340843,10224039,10221984,9442887,9210392,7575517,8463241 523 NM_001690,AC079944,AC108693,CH471052,AF113129,AF339827,AL514316,BC012169,BC013138,BT006672,L09235 NP_001681,EAW79625,EAW79626,EAW79627,EAW79628,AAF14870,AAH13138,AAP35318,AAA83249,B46091,P38606 Hs.477155 ATP6A1|ATP6V1A1|HO68|VA68|VPP2|Vma1 protein-coding 1321627 ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness) This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. 1580863,1599372 12414817,16433694,9916796,18180394,17216496,16344560,14702039,14597263,14580332,12788495,12579397,12500243,12477932,11836511,10915794,10748165,10440860,10340843,10224039,10221984,9442887,9373149,9210392,8889548,8849440,8597961,8125298,7945239,2527371,12651853 1599372 525 AF107478,CH471053,AK127853,AK223151,AK291121,AU126647,BC035978,BC063411,CA944873,CR591416,CR598781,CR609142,CR614364,CR617095,CR618579,CR626470,DA845716,M25809,NM_001692,AC007040,AF107466,AF107467,AF107468,AF107469,AF107470,AF107471,AF107472,AF107473,AF107474,AF107475,AF107476,AF107477 EAW99790,EAW99791,BAD96871,BAF83810,AAH35978,AAH63411,NP_001683,AAD11943,AAA36498,P15313,Q53FY0,Q6P4H6,Q71UA2,Q8IYF9 Hs.64173 GDB:125316 ATP6B1|MGC32642|RTA1B|VATB|VMA2|VPP3 atpase, h+ transporting, lysosomal 56/58kda, v1 subunit b, isoform 1 (renal tubular acidosis with deafness) protein-coding 732120 ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. 1300048,1580863 2145275,17081065,15489334,14702039,14597263,14580332,12788495,12670943,12643545,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392,7945239,7706273,1373501 526 NM_001693,AC025853,CH471080,Z37165,AB208806,AK127443,BC003100,BC007309,BC030640,CR605997,CR617043,L35249,M60346,X62949 NP_001684,EAW63758,EAW63759,CAA85522,BAD92043,AAH03100,AAH07309,AAH30640,AAA58661,AAA35610,CAA44721,P21281,Q59HF3,ABM82763,ABM85949 Hs.295917 GDB:229107 ATP6B1B2|ATP6B2|HO57|VATB|VPP3|Vma2 atpase, h+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kda, isoform 2 protein-coding 1322350 ATP6V1C1 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. 1300048,1580863 8250920,16415858,16344560,15489334,14702039,14597263,14580332,12890556,12788495,12477932,11836511,11752456,10440860,10340843,10224039,10221984,9442887,9210392,2147024 528 CR625778,J05682,X69151,NM_001695,AF363578,AP003550,CH471060,AA242944,AK000064,AK090702,AL707882,AU137773,AV649881,AW505309,BC010960,BI821321,BX648079,CR609104 AAA36803,CAA48903,P21283,NP_001686,AAL50383,EAW91859,EAW91860,AAH10960 Hs.86905 GDB:229110 ATP6C|ATP6D|FLJ20057|VATC|Vma5 protein-coding 1354342 ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. 1580863 16344560,16042619,15203218,14597263,14580332,12788495,12477932,12384298,11836511 245973 NM_001039362,NM_144583,AC092687,CH471053,AK127836,AK292952,AY039759,BC012142,BX358022,CD636943,DB230703 NP_001034451,NP_653184,AAY24069,EAX00951,EAX00952,BAC87156,BAF85641,AAK83464,AAH12142,Q6ZS00,Q8NEY4,ABM83181,ABW03480 Hs.580464 GDB:11508947 ATP6C2|VMA5 atpase, h+ transporting, lysosomal 42kda, v1 subunit c isoform 2 protein-coding 1348353 ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. 1580863 15489334,14702039,14597263,14580332,12788495,12477932,11913976,11836511,11435709,10931946,10440860,10340843,10224039,10221984,9442887,9210392 51382 AF077614,AF100741,AF104629,AF145316,AK001155,BC001411,BC025373,BC031002,BF669634,BG236185,CR590079,NM_015994,AL139785,CH471061,CR591270,CR598234,CR600453,CR603153,CR612882,CR613083,CR614271,CR619229,CR619369,CR621010,CR626788 EAW80931,EAW80932,AAG43047,AAD40384,AAG30726,AAD33953,BAA91523,AAH01411,AAH25373,AAH31002,NP_057078,Q6PJ05,Q8N5Z9,Q9H3H0,Q9NW63,Q9Y5K8 Hs.272630 GDB:11505653 ATP6M|VATD|VMA8 protein-coding 1347206 ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. 1580863 16169070,16155006,15489334,14597263,14580332,12788495,12477932,12163484,12036578,11836511,11560919,11399750,11381032,10915794,14667819,8250920,16196101,10748165,10440860,10340843,10224039,10221984,9442887,9405660,9210392,8004105,1533641 529 NM_001039366,NM_001039367,NM_001696,AC004019,AC006285,AC007666,CH471193,AI565049,AW406069,BC004443,BE735148,BI546032,BI597419,BQ888820,BT007128,CK005516,CR456385,CR590656,CR593071,CR596207,CR599840,CR601392,CR601656,CR602178,CR603834,CR604724,CR606139,CR617041,CR624585,CR626384,X71491,X76228 NP_001034455,NP_001034456,NP_001687,EAW57762,EAW57763,EAW57764,EAW57765,AAH04443,AAP35792,CAG30271,CAA50592,CAA53814,P36543,Q53Y06,CAK54374,CAK54673 Hs.517338 GDB:229111 ATP6E|ATP6E2|ATP6V1E|P31|Vma4 protein-coding 1323263 ATP6V1E2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 1580863 15815621,15489334,14702039,14597263,14580332,12788495,12477932,12036578,11836511,10748165 90423 NM_080653,AC018682,CH471053,AB074759,AK058055,BC008981,BC034808,BG717423,CR601460 NP_542384,AAY14833,EAX00253,BAC00847,BAB71643,AAH08981,AAH34808,Q96A05 Hs.437691,Hs.659656 GDB:11505655 ATP6E1|ATP6EL2|ATP6V1EL2|MGC9341|VMA4 atpase, h+ transporting, lysosomal 31kda, v1 subunit e isoform 2 protein-coding 1348896 ATP6V1EL1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E-like 1 530 GDB:229112 1351681 ATP6V1EP1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 1 531 GDB:229113 1343908 ATP6V1EP2 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E pseudogene 2 532 GDB:229114 1351850 ATP6V1F ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. 631896,1580863 8581736,8621738,15489334,14597263,14580332,12788495,12690205,12477932,11836511,10440860,10340843,10224039,10221984,9442887,9210392,8012384 631896 9296 NM_004231,AC025594,CH236950,CH471070,Z55117,Z61564,BC104230,BC104231,BC107854,BG724326,CR456896,D49400 NP_004222,EAL24110,EAW83692,EAW83693,AAI04231,AAI04232,AAI07855,CAG33177,BAA08392,Q16864 Hs.78089 GDB:9955652 ATP6S14|MGC117321|MGC126037|MGC126038|VATF|Vma7 protein-coding 1320793 ATP6V1G1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. 1298632,1580863 16189514,16169070,15489334,14597263,14580332,12788495,12477932,12384298,11836511,11042152,10440860,10340843,10224039,10221984,9653160,9442887,9210392 1298632 9550 NM_004888,AL160275,CH471090,AF038954,AI092246,BC003564,BC008452,BF692207,BI596632,CR456971,CR542237,CR591741,CR596352,CR607789,CR614473,CR617444 NP_004879,CAH73481,EAW87424,EAW87425,AAC39868,AAH08452,CAG33252,CAG47033,O75348,Q6IB33,Q9BTN3 Hs.388654 GDB:9957319 ATP6G|ATP6G1|ATP6GL|ATP6J|DKFZp547P234|Vma10 atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 1 protein-coding 1347481 ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. 1302931,1580863 14667819,17081065,14597263,14580332,14574404,12788495,12665801,12477932,12384298,11836511,10440860,10340843,10224039,10221984,10202016,9442887,9210392 1302931 534 NM_130463,NM_138282,AB063177,AB088115,AB097672,AB102692,AB103621,AB202112,AL662801,AL662847,BA000025,BX001040,BX248516,BX927320,BC068023,BC119726,BC119727,BC047791,CH471081,CR753864,CR753892,Y14768 NP_569730,NP_612139,BAC00863,BAC54952,BAD74057,BAD74058,BAF31286,BAE78636,CAI18287,CAI17673,BAB63399,CAI18639,CAI18640,CAI41929,CAI41930,CAQ09987,CAQ09988,AAH68023,AAI19727,AAI19728,O95670,Q2L6F8,Q5RJ63,Q6NVJ2,EAX03414,EAX03416,CAQ10647,CAQ10648,CAQ06925,CAQ06926,CAA75073 Hs.249227 GDB:7218410 ATP6G|ATP6G2|NG38|VMA10 atpase, h+ transporting, lysosomal 13kda, v1 subunit g isoform 2 protein-coding 1312186 ATP6V1G3 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. 1580863 16710414,15489334,14597263,14580332,12788495,12477932,12384298,11836511,10440860,10340843,10224039,10221984,9442887,9210392,1415677 127124 NM_133262,NM_133326,AL157402,CH471067,AY039760,BC101129,BC101130,BC101131,BF509031 NP_573569,NP_579872,CAI15638,EAW91298,EAW91299,AAK83465,AAI01130,AAI01131,AAI01132,Q495K2,Q495K4,Q96LB4 Hs.127743 GDB:11505657 ATP6G3|MGC119810|MGC119813|Vma10 protein-coding 1348011 ATP6V1GP1 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 1 319116 NG_002497,AL122127 pseudo 1605148 ATP6V1GP2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G pseudogene 2 619450 NG_005483,AC120036 pseudo 1320995 ATP6V1H ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the regulatory H subunit of the V1 domain which is required for catalysis of ATP but not the assembly of V-ATPase. Three alternatively spliced transcript variants encode two isoforms of the H subunit. 1580863 9442887,9620685,11179428,12032142,16103193,2014052,15489334,14702039,14597263,14580332,12788495,12539959,12477932,12163484,12058068,11836511,10931946,10810093,11463741 51606 AK022345,AK094839,AK098305,AL598970,BC007421,BC007454,BC014862,BC025275,CR592283,CR607523,CR616924,CR619990,NM_015941,NM_213620,AC022887,AC103778,AC113194,AL833183,CH471068,AF112204,AF113222,AF125105,AF132945,AF298777,AI741756,NM_213619 AAH25275,Q8TF11,Q9UI12,NP_998784,NP_057025,NP_998785,EAW86727,EAW86728,EAW86729,EAW86730,EAW86731,EAW86732,EAW86733,AAF17192,AAG39293,AAL75942,AAD27720,AAG22809 Hs.491737 GDB:11505659 CGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13 protein-coding 10216 ATP7A ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) 734621,1580863 16211579,16172131,16083905,16051599,15981243,15772651,15342556,15135234,14977365,14644159,14635105,14572476,12679332,12676902,12565888,12539963,12539960,12485192,12221109,11936860,11431706,11350187,11241493,11214319,11040994,10970802,10739752,10557326,10484781,10401004,10319589,10079817,10079814,9693104,9668166,9437429,9246006,16317117,9817923,15670166,10497213,16397091,11092760,9467005,8943055,10567439,12812980,18272047,17989919,17987894,17717039,17562324,17545667,17531189,17496194,17178205,17158254,17109627,17108763,16884690,16873374,16826513,9147644,8981948,8947031,8923001,8490659,8490647,8490646,7977350,7842019,7607665,7490081 734621 538 NM_000052,AL356235,AL645821,AL772330,AY011418,CH471104,U27360,U27381,X82336,Z94753,Z94801,AB117973,AB208828,BP364137,CD299174,CR605420,L06133,L06476 NP_000043,AAG47452,EAW98605,EAW98606,AAA96010,CAB94714,CAB08160,CAB08162,BAC82353,BAD92065,AAA35580,AAA16974,Q04656,Q59HD1,Q5JQN4,Q762B6,AAI56438 Hs.496414 GDB:119395 MK|MNK atpase, cu++ transporting, alpha polypeptide protein-coding 731392 ATP7B ATPase, Cu++ transporting, beta polypeptide This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). 734622,2292670,2292672 16567646,12029094,12763797,16472602,16554302,16884690,15269005,16939419,8298641,15681833,18371106,18203200,18180385,17949296,17919502,17897870,17876883,17718866,17717039,17680703,17660582,17634212,17587212,17562324,17531189,17410460,17325640,17317524,17272994,17229731,17171802,17160357,17109627,16700326,16676348,16632204,16571664,16416207,16377579,16310588,16283883,16230279,16211609,16088907,15967699,15963506,15952988,17823867,15519648,15511628,15337266,15205462,15158437,15154620,15135234,15102688,15057823,15024742,14986826,14966923,14709553,14616767,14514926,12968035,12885331,12820478,12812649,12579336,12579329,12557139,12551905,12544487,12539962,12539960,12477932,12445675,15845031,15557537,12325021,12216079,12196182,12186999,11857545,11823463,11806854,11802810,11775546,11775208,11690702,11470780,11405812,11243728,11180609,11053407,11043508,10942420,10940336,10790207,10721669,10557326,10544227,10502777,10502776,10497213,10447265,10334941,10051024,9887381,9829905,9772425,9724794,9671269,9600907,9554743,9482578,9311736,9307043,9222767,8980283,8938442,8931691,8889549,8782057,8533760,8298640,8298639,8250934,7833924,7762553,7626145 734622,2292670,2292672 540 NM_001005918,NM_000053,AF034838,AF220215,AF254559,AF254560,AL138821,AL139082,AL162377,CH471075,S77446,S77447,S77450,AA047378,AB209461,BC117200,BX479483,BX648261,CR591822,CR606188,DQ015922,L25442,L25591,U03464,U11700 NP_001005918,NP_000044,AAD01998,AAF67661,AAG27536,AAG27537,CAI12888,CAI13428,EAX08892,EAX08893,EAX08894,EAX08895,EAX08896,AAD14987,AAB34086,AAB34087,BAD92698,AAI17201,AAY41166,AAA16173,AAA79211,AAA79212,AAB52902,AAA92667,P35670,Q17RT3,Q9GZP5,Q9NZ25 Hs.492280 GDB:120494 PWD|WC1|WD|WND protein-coding 1320053 ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. 631958,1580863 10198212,17229723,15342556,12477932,11015572,9548971,9110174,8619474 631958 10396 NM_006095,NM_001105529,AC084010,AC096734,AC110788,AC139717,CH471069,AB013452,AB209687,AK027252,BC020943,BC109317,BC109318,BP232466,BX648675,AF035315,AF067820 NP_006086,NP_001098999,AAY40980,AAY40924,EAW93003,EAW93004,BAA77248,BAD92924,AAH20943,AAI09318,AAI09319,Q32M35,Q32M36,Q4G1C1,Q4W5J7,Q4W5P2,Q59EX4,Q9Y2Q0,AAD34706 Hs.435052 GDB:10796905 ATPASEII|ATPIA|ATPP2|MGC130042|MGC130043|MGC26327 protein-coding 1344629 ATP8A2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 1580863 10551800,15057823,14702039,11015572 51761 NM_016529,AL136438,AL138815,AL138958,AL157366,AL356316,AL669971,CH471075,AF236871,AK094653,AK126031,AK127263,AL137256,AL390129,BX537836 NP_057613,CAH71291,CAH70876,EAX08372,EAX08373,EAX08374,EAX08375,EAX08376,AAF40215,BAC04396,BAC86402,BAC86905,CAB70658,CAB99084,CAD97848,Q6ZSP3,Q6ZU25,Q9NTI2,AAI56472 Hs.444957 GDB:10796907 ATP|ATPIB|DKFZP434B1913|IB|ML-1 protein-coding 1318284 ATP8B1 ATPase, class I, type 8B, member 1 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. 1580863,1599397 9500542,12880872,16628629,11682026,15946126,15489334,15239083,14988830,12477932,11093741,11015572,10679031,9918928,9548971,7894490,7655458,5762004 1599397 5205 NM_005603,NG_007148,AC027097,CH471096,AF032442,AF038007,AK128536,BC003534 NP_005594,EAW63054,EAW63055,AAC04328,AAC63461,AAH03534,O43520 Hs.216623 GDB:453352 ATPIC|BRIC|FIC1|PFIC|PFIC1 protein-coding 1318635 ATP8B2 ATPase, class I, type 8B, member 2 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 12880872,15489334,14702039,12477932,11015572,10574461 57198 NM_001005855,AB032963,AI857468,AK054886,AL137537,AY302537,NM_020452,AL162591,CH471121,BC007837,BC030288,BC041573,BC063858,BC069264,CR621246 EAW53205,EAW53206,EAW53207,EAW53208,BAA86451,BAB70822,CAB70799,NP_001005855,NP_065185,CAH72857,CAH72858,EAW53204,AAQ19027,AAH07837,AAH30288,AAH63858,AAH69264,P98198,Q5VZ21,Q5VZ22,Q6NT69,Q6P3T1,Q7Z486,AAI40442 Hs.435700 GDB:10796909 ATPID|DKFZp434M0219|KIAA1137 protein-coding 1316924 ATP8B3 ATPase, class I, type 8B, member 3 The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene encodes the member 3 of the phospholipid-transporting ATPase 8B. 1580863 12880872,14702039,12477932,11015572,146761 148229 AC004755,AC012615,CH471139,AK057452,AK058189,AK125225,AK125969,AY302538,BC033179,BC035162,BX427831,NM_138813 NP_620168,AAC17601,EAW69454,EAW69455,EAW69456,EAW69457,EAW69458,EAW69459,EAW69460,EAW69461,EAW69462,EAW69463,BAB71492,BAB71708,BAC86088,BAC86368,AAQ19028,AAH35162,O60423,Q6ZU58,Q6ZUX8,Q7Z485,Q96LI4 Hs.306212 GDB:10796911 ATPIK protein-coding 1315485 ATP8B4 ATPase, class I, type 8B, member 4 1580863 16572171,14702039,12880872,12477932,11853319,11015572,10737800 79895 NM_024837,AC009753,AC016045,AC025040,CH471082,AB075819,AK025125,AK123747,AK128602,BC057236,BE241899,BF898163,BF898268,BI258773,BX647496 NP_079113,EAW77380,EAW77381,EAW77382,EAW77383,BAB85525,BAB15072,BAC87523,AAH57236,Q6PG43,Q6ZR02,Q8TF62,AAI66692 Hs.511311 GDB:10796913 ATPIM protein-coding 1352358 ATP8B5 ATPase, Class I, type 8B, member 5 11015572 57195 GDB:10796914 735480 ATP9A ATPase, class II, type 9A 1580863 14702039,12477932,11780052,11015572,9734811 10079 AB014511,AF086357,AK025559,AK026513,AK172802,NM_006045,AL035684,AL138807,AL353799,CH471077,BC016044,BC036759,BC043392,BC063701,BC110591,BC110592,CR620342 EAW75597,EAW75598,EAW75599,EAW75600,BAA31586,BAD18775,NP_006036,CAI19202,CAI19203,CAI22924,CAI22925,CAI18889,CAI18890,AAH16044,AAI10592,AAI10593,O75110,Q2NLD0,Q96B35 Hs.649234 GDB:9954975 ATPIIA|KIAA0611 protein-coding 1353015 ATP9B ATPase, class II, type 9B 631958,1580863 16177791,14702039,12477932,11124703,11015572,9548971 631958 374868 AC023090,AC099689,AC104423,AC125437,CH471117,NM_198531,AJ006268,AK093704,AK097757,AK127634,AK128142,AK128847,AK130499,AK130839,AL096735,AW411030,BC022535,BC036473,BC037546,BC053561,BC125219,BC125220,BX537860,BX648948,U78978 NP_940933,EAW66609,EAW66610,EAW66611,EAW66612,EAW66613,EAW66614,EAW66615,EAW66616,CAA06934,BAC87065,BAC87295,BAC87644,BAC85365,BAC85443,CAH10731,AAH53561,AAI25220,AAI25221,CAD97865,AAC05243,O43861,Q08AD8,Q08AD9,Q69YZ7,Q6ZNQ7,Q6ZNW8,Q6ZQP0,Q6ZRL5,Q6ZS89,Q7Z3J4,Q7Z6L4 Hs.465475 GDB:10796915 ATPASEP|ATPIIB|DKFZp686H2093|FLJ46612|HUSSY-20|MGC150650|MGC150651|MGC61572|NEO1L protein-coding 1313436 ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified, but the biological validity of some of these variants has not been determined. 12965202,12477932,12206899,11410595 64756 NM_001042546,NM_022745,AL136373,AL593856,CH471059,AF111705,AJ710373,AK026004,BC008498,BC018781,BC071731,BX438342,CR607719,CR623971,DB483450,CR600112,CR601689 NP_001036011,NP_073582,CAI14761,EAX06896,EAX06897,AAM12421,BAB15316,AAH08498,AAH18781,AAH71731,Q5SXB7,Q5TC12,Q8TE08 Hs.709436 GDB:11508316 ATP11|ATP11p|FLJ22351|MGC88060 protein-coding 1313025 ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. 1580863 11410595,14757859,11256614,16381901,15489336,15489334,12477932,11997338,11076863,9110174,8619474 91647 NM_145691,AC087163,CH471196,AA760883,AF052185,AF070584,AI857387,AK290257,AY203943,BC004114,BC032126,CR596170,CR600553 NP_663729,EAW55676,EAW55677,EAW55678,EAW55679,EAW55680,BAF82946,AAP34466,AAH04114,AAH32126,Q0JTP3,Q8N5M1,CAL38119 Hs.528889 GDB:11508318 ATP12|ATP12p|LP3663|MGC29736 protein-coding 1602450 ATPBD3 ATP binding domain 3 16964243,15489334,12477932 90353 NM_145232,AC011473,AY279382,CH471135,AK291173,BC009037,CR597220 NP_660275,AAP42277,EAW71984,BAF83862,AAH09037,Q7Z7A3 Hs.148425 MGC17332 protein-coding 1603188 ATPBD4 ATP binding domain 4 15489334,14702039,12477932 89978 NM_080650,AC015994,AC019288,CH471125,AK094007,AK125017,AL833427,BC008485,BC066652,BX537862,CR622071 NP_542381,EAW92327,BAC04266,AAH08485,AAH66652,Q7L8W6 Hs.107196 MGC14798 protein-coding 1312589 ATPIF1 ATPase inhibitory factor 1 This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. 1580863 15528193,12110673,10664857,17851741,16806233,16713569,15809073,15635413,15489334,14702039,12477932,11742976 93974 NM_178191,NM_178190,AL353622,AY005470,CH471059,AB029042,AF114836,AK000934,BC004955,BC009677,BC017562,BG036978,BG714388,BT009849,CR457097,CR592071,CR597880,CR621184,AL050386,NM_016311 NP_835498,NP_057395,CAI19134,AAF97495,EAX07704,EAX07705,EAX07706,BAA88422,AAP97235,AAH04955,AAH09677,AAP88851,CAG33378,Q5JXL8,Q6IAQ7,Q9BSL9,Q9UII2,CAI46227,NP_835497 Hs.590908 GDB:10796016 ATPI|ATPIP|IP|MGC1167|MGC8898 protein-coding 1345188 ATQL2 antiquitin-like 2 9417906 542 GDB:6089504 1353754 ATQL3 antiquitin-like 3 9417906 543 NG_001083,AC069304,AF002694 GDB:6089506 pseudo 1350929 ATQL4 antiquitin-like 4 9417906 544 NG_001084,AC067751,AF002695 GDB:6089507 pseudo 1314047 ATR ataxia telangiectasia and Rad3 related The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. 1580863,1599404 16713580,14657349,8610130,9590286,15707391,18451257,18434539,18381943,18357388,18245444,18202016,18032786,18025301,18003706,17976513,17934520,17879369,17716975,17686975,17638878,17616665,17616578,17526493,17478428,17409144,17384681,17376433,17292679,17210576,17157788,17140287,17124492,17035231,17030982,17015476,17010193,16968694,16951182,16909103,16880517,16827800,15456891,15451423,15374968,15314022,15302935,15282542,15279777,15235112,15210935,15050919,14988723,14871897,14755251,14742437,14729973,14724280,12959929,12915485,12814551,12791985,12791699,12773400,12766152,12738771,12679521,12640452,12629512,12526805,12519769,12493754,12446774,12147700,12024051,12011431,11927575,11883897,11865061,11799063,11790298,11721054,11715017,11709713,16757521,16741947,16738325,16705183,16675950,16540648,16530042,16474843,16461339,16436511,16431910,16293623,16260606,16195237,16086026,16009130,15987455,15854902,15758953,15743907,15734998,15680327,15650165,15635413,15616588,15539948,15533933,15527801,15496423,15466211,11688760,11673449,11551930,11470508,11459832,11418864,11393670,11390642,11252893,11163154,11114888,10973490,10951572,10889046,10859164,10749680,10747897,10673501,10608806,10597277,10545197,9925639,9857181,9766667,9765199,9636169,9427750,8978690,8843195,16956949,16354571,16306615,15650754,15485898,15159397,11278964,11016625,15933716,15775976,15195100 1599404 545 NM_001184,A61385,AC109992,AC134509,AF325699,CH471052,AB208847,BE859077,DC346860,U49844,U76308,Y09077 NP_001175,CAA03590,AAK26749,EAW78969,EAW78970,BAD92084,AAC50405,AAC50929,CAA70298,Q13535,Q59HB2 Hs.271791 GDB:9835874 FRP1|MEC1|SCKL|SCKL1 protein-coding 1625848 ATRIP ATR interacting protein The product of this gene is an essential component of the DNA damage checkpoint, and binds to single-stranded DNA coated with replication protein A that accumulates at sites of DNA damage. The encoded protein interacts with the ataxia telangiectasia and Rad3 related protein, a checkpoint kinase, resulting in accumulation of the kinase at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. 14657349,15707391,12791985,17638878,17616665,17339343,17327276,17203973,17171639,16959771,16713580,16530042,16407120,16186122,16176973,16027118,15758953,15527801,15489334,15451423,15210935,14724280,14702039,12477932,11721054,11278605,11181995,15743907 84126 NM_130384,NM_032166,AC104448,CH471055,AF451323,AK022405,AK291568,AK291829,AL832917,BC014153,BC020563,BC030597,CR622505 NP_569055,NP_115542,EAW64875,EAW64876,EAW64877,EAW64878,EAW64879,EAW64880,EAW64881,EAW64882,AAL38042,BAB14029,BAF84257,BAF84518,CAH10621,AAH14153,AAH20563,AAH30597,Q69YK9,Q8WXE1,ABM83164,ABM86364 Hs.694840 DKFZp762J2115|FLJ12343|MGC20625|MGC21482|MGC26740 protein-coding 69117 ATRN attractin Multiple transcript variants encoding different isoforms exist for this gene. One of the isoforms is a membrane-bound protein with sequence similarity to the mouse mahogany protein, a receptor involved in controlling obesity. The other isoform is a secreted protein involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. 734623,1580863,1299186 10086356,9736737,16835316,16335952,15489334,14760718,12675230,12665801,12477932,11780052,10811918,10086355,9628581,8596018,1476071 734623,1299186 8455 NM_139322,AF218889,AF218910,AF218915,AL109805,AL132773,AL353193,CH471133,AA771958,AB011120,AF106861,AK000356,AK293010,BC009724,BC101705,NM_139321 NP_647537,NP_647538,AAF72881,AAF72882,EAX10530,EAX10531,EAX10532,BAA25474,AAD03057,BAF85699,AAH09724,AAI01706,O75882,Q96D99,Q9UC75,Q9UDF5 Hs.276252 GDB:9955190 DPPT-L|KIAA0548|MGC126754|MGCA protein-coding 1607060 ATRNL1 attractin-like 1 14531729,12477932,9628581 26033 AC022542,AC091667,AL355530,AL356100,AL357059,AL392087,AL512304,CH471066,AB011106,AK127277,AW190029,AY442317,BC029592,BC035157,BC046219,BC047716,BC139916,BC139923,BX500409,CR602409,CR612664,CR614866,NM_207303 NP_997186,CAI13482,CAI13483,CAI40416,CAI40417,CAI40793,CAI40794,CAH74015,EAW49459,EAW49460,EAW49461,BAA25460,BAC86914,AAR14297,AAH35157,AAH47716,AAI39917,AAI39924,Q4G0Y2,Q5VV63 Hs.501127 ALP|FLJ45344|KIAA0534|bA338L11.1|bA454H24.1 protein-coding 1605736 ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. 7697714,12953102,10742099,10570185,7874112,18227278,17957225,17609377,17579672,17296936,17081983,16537041,16480427,16376512,16344560,16266892,15882967,15772651,15635413,15591283,15508018,15466868,15350606,15302935,14990586,14690447,14645126,14592816,12858175,12777533,12477932,12205100,12116232,11823444,11050622,10995512,10851248,10751095,10737800,10699177,10660327,10417298,10398237,10204841,9499421,9326931,9321665,9244431,9043863,8968741,8889548,8630485,8162050,8001970,3658675,3177467,1684092,1605216,1415255,17353931 546 AA484729,AA732359,AB102641,AB208928,AB209545,AI733378,BC002521,BE927791,BM714186,BQ189245,BT007188,BX647222,CB114986,CR605020,CR610856,DA759777,DR422800,U09820,U72936,U72937,U72938,Z84487,NM_138270,NM_000489,AB101681,AB101682,AB101683,AB101684,AB101685,AB101686,AB101687,AB101688,AB101689,AB101690,AB101691,AB101692,AB101693,AB101694,AB101695,AB101696,AB101697,AB101698,AB101699,AB101700,AL109753,AL121874,CH471104,L34363,U72935,U75653,U97103,X83753 CAI42674,CAI42675,CAI42677,BAC81110,BAD92165,BAD92782,AAH02521,AAP35852,AAC50069,AAB49969,AAB49970,AAB49971,P46100,Q86U63,CAA58711,NP_612114,NP_000480,BAC80270,BAC80271,BAC80272,BAC80273,BAC80274,BAC80275,BAC80276,BAC80277,BAC80278,BAC80279,BAC80280,BAC80281,BAC80282,BAC80283,BAC80284,BAC80285,BAC80286,BAC80287,BAC80288,BAC80289,CAI43115,CAI43116,CAI43117,CAB90351,CAI40710,EAW98611,EAW98612,EAW98613,EAW98614,EAW98615,AAA20872,AAB40698,AAB40699,AAB40700,AAC51655,AAC51657 Hs.533526,Hs.653797 GDB:136052 ATR2|MGC2094|MRXHF1|RAD54|RAD54L|SFM1|SHS|XH2|XNP|ZNF-HX protein-coding 1344585 ATXN1 ataxin 1 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal allele. Several transcript variants in the 5' UTR have been described; however, their full-length nature is not known. 1580863 16713569,11136710,12757932,15016912,9097953,15615787,7647801,17557114,18337722,18216249,18182848,18160752,17190598,16967484,16831871,16614004,16497448,16389595,16380905,16311891,16121196,15878393,15750336,15300851,15292212,15167689,15148151,14985428,14756671,14583607,14574404,12757707,12741986,12477932,12411613,12360291,12093161,12062018,11973625,11807410,11804332,11781699,11121205,11001934,10713882,9353121,9353120,8872471,8634720,8619528,8358429,7951322,1582256,12659632 6310 NM_000332,AC002112,AC002326,AL009031,AL031120,AL034375,AL137003,CH471087,S82497,AA774255,BC010948,BC011026,BC014548,BC029401,BC039236,BC047894,BC063120,BC092446,BC113082,BC117125,BF666802,BF670717,BX505133,N52856,X79204 P54253,Q17S02,Q96C81,Q96FF1,NP_000323,CAA15622,EAW55370,EAW55371,EAW55372,EAW55373,EAW55374,AAD14401,AAH11026,AAH14548,AAI17126,CAA55793 Hs.434961 ATX1|D6S504E|SCA1 protein-coding 1351525 ATXN10 ataxin 10 The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.[supplied by OMIM] 724628,1599410,1599412,1580863 17353931,16385455,15201271,18386626,17846122,16498633,15489334,15461802,15148151,15127363,14702039,12477932,12235814,11891842,11256614,11230166,11017075,10591208,9973298,9818872,8421960 724628,1599410,1599412 25814 NM_013236,CH471138,Z84478,Z93784,Z95331,AF086923,AF119662,AK025734,AK095309,AL050282,AL137374,BC007508,BI597255,CR456568,CR457381,CR591840,CR597143,CR597596,CR597776,CR598064,CR598962,CR599131,CR599864,CR606318,CR608172,CR611033,CR611700,CR616843,CR618273,CR620147,CR621682,CR609486 NP_037368,EAW73392,EAW73393,CAI20373,CAQ09634,CAI20419,CAI41716,AAP97153,AAF17219,CAB43383,CAB70715,AAH07508,CAG30454,CAG33662,Q7Z524,Q9NTC6,Q9UBB4,ABM84166,ABM87569 Hs.475125 E46L|FLJ37990|SCA10 protein-coding 1626546 ATXN1L ataxin 1-like 17322884,16121196,12477932,11181995,10737800 342371 XM_928464,XM_001724473,XM_001724532,AC010653,CH471166,AK025113,AK025339,AL833385,BC042985,BF741450,BX537575,BX537596,CV395115 XP_933557,XP_001724525,XP_001724584,EAW59221 Hs.652268 BOAT|DKFZp667N0214|DKFZp686D05115|DKFZp686O1195|FLJ21460|FLJ21686 protein-coding 1347160 ATXN2 ataxin 2 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 36-52 CAG repeats, compared to 22-23 in the normal allele. A potential transcript variant, missing an internal coding exon, has been described; however, its full-length nature is not certain. 1580863 10814712,15663938,17392519,16835262,12812977,17097639,18182848,18160752,17923635,17850638,17715286,17712857,17440947,17353931,17149720,16713569,16687213,16389595,16205789,16115810,16078202,15826995,15533937,15300851,15265035,15148151,15124760,14756671,14702039,14534423,12940846,12671950,12545161,12524342,12477932,12107410,11872620,11804332,11689490,11471052,11311558,10973246,10713882,9989626,9480749,9225980,8896557,8896556,8896555,8358438 6311 NM_002973,AC002395,AC137055,CH471054,AA731027,AI083696,AK095017,AK128613,AL042619,BC111757,BC114546,BF448025,CA389718,CR619107,U70323,U80749,Y08262 NP_002964,EAW97957,EAW97958,EAW97959,EAW97960,BAC87528,AAI11758,AAI14547,AAB19200,CAA69589,Q24JQ7,Q2M2R5,Q99700 Hs.76253 ATX2|FLJ46772|SCA2|TNRC13 protein-coding 1604832 ATXN2L ataxin 2-like This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. 17392519,17081983,16964243,16713569,15782174,15489334,15302935,15144186,14769358,12477932,11784712,9110174,8896555,8619474 11273 NM_007245,AF034373,AF070605,AJ317970,AJ317971,AJ317972,AJ317973,AJ317974,AK289981,AL137587,AY188334,AY188335,AY188336,AY188337,AY188338,BC010239,BC068012,BC082760,U70671,NM_148414,NM_148415,NM_148416,NM_145714,AC116346,AC133550,AC145285,CH471267 EAW51990,EAW51991,EAW51992,EAW51993,EAW51994,EAW51995,EAW51996,AAC69607,CAC38068,CAC38069,CAC38070,CAC38071,CAC38072,BAF82670,AAO12056,AAO12057,AAO12058,AAO12059,AAO12060,AAH10239,AAH82760,AAB19201,Q63ZY4,Q8WWM7,AAH68012,NP_009176,NP_680780,NP_680781,NP_680782,NP_663760,EAW51986,EAW51987,EAW51988,EAW51989 Hs.460499 A2D|A2LG|A2LP|A2RP protein-coding 1606333 ATXN3 ataxin 3 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. 16713569,9124802,10915768,7655453,9580663,18182848,18160752,17956866,17935801,17696782,17693639,17683516,17632007,17626202,17488727,17440947,17434145,17302910,17079677,17000876,16967484,16822850,16791428,16724006,16687213,16624810,16525503,16389595,16344560,16126176,16118278,16087686,16040601,15808507,15767577,15630566,15544810,15537899,15489334,15345714,15316156,15265035,15236410,15223312,15210524,15140190,15128861,15026782,14756671,14746390,14679302,14661975,14659761,14602712,14559776,12944474,12944423,12940846,12914917,12873751,12857950,12832059,12766160,12486728,12477932,12297501,12166658,12127147,12084819,11804332,11450850,11121205,9535906,9373149,9274833,8358439,8125298,7874163,7825578,16189514,8640226 4287 NM_030660,NM_004993,NM_001127696,NM_001127697,AB038653,AL049872,AL121773,CH471061,AB050194,AB209309,AK225884,BC022245,BC033711,BC095402,BU190081,BU663113,CR602562,DA827537,S75313,U64820,U64821,U64822 NP_109376,NP_004984,NP_001121168,NP_001121169,BAB55645,BAB55646,EAW81471,EAW81472,EAW81473,EAW81474,EAW81475,BAB18798,BAD92546,AAH33711,AAH95402,AAB33571,AAB63352,AAB63353,AAB63354,P54252,Q0P6C0,Q4VBR4,Q59G00,ABM82208,ABW03377 Hs.532632 AT3|ATX3|JOS|MJD|MJD1|SCA3 protein-coding 1606478 ATXN3L ataxin 3-like 16344560,15772651,12477932,11450850 92552 NR_003585,AC004674,CH471074,AB050195,DB059638,DB460385,DB525796 EAW98819,BAB18799,Q9H3M9 Hs.382641 MJDL pseudo 1350255 ATXN7 ataxin 7 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. Because it contains an NLS consensus sequence and is found to be localized in the nucleus, it has been postulated to be a potential transcription factor. 1580863 11371513,10441328,9288099,18216249,18182848,17720198,17254003,17026624,16962040,16713569,16389595,16325416,15936949,15932940,15316811,15302935,15148151,15115762,14702039,12944423,12533095,12070661,11804332,11734547,11709544,11697524,11580893,10713882,10598805,9425224,7647798 6314 NM_000333,AC012557,AC104162,AF020276,AF032102,AF332956,CH471055,AF032103,AF032104,AF032105,AJ000517,AK125125,AL134602 NP_000324,AAB87863,AAC19162,AAL79807,EAW65422,EAW65423,AAC19163,AAC19164,AAC39765,CAA04154,O15265,O43180,Q8TEZ8,Q9UPD8,AAI66666 Hs.476595 ADCAII|OPCA3|SCA7 protein-coding 1349210 ATXN7L1 ataxin 7-like 1 15115762,14702039,12477932,10574462,12421765 57485 Q8N7W9,Q9ULK2 AB033044,AK097574,BC003517,BC055009 BAA86532,BAC05107,AAH03517,Q9ULK2,Q8N7W9 Hs.489603 KIAA1218 protein-coding 1350736 ATXN7L2 ataxin 7-like 2 737633 16710414,12477932 737633 127002 NM_153340,AL355145,AK090460,BC036849,BC037582,CR600667,CR602365 NP_699171,CAI22937,CAI22938,BAC03441,AAH36849,AAH37582,Q5T6C5,Q8IUZ3,Q8IV05,Q8NF21 Hs.118248 FLJ00381|MGC46534 protein-coding 1342958 ATXN7L3 ataxin 7-like 3 18206972,15489334,15115762,14702039,12477932 56970 NM_020218,NM_001098833,AC004596,CH471178,AK056002,AK074344,AK126117,AL390158,BC024695,BC037418,BC064932,BC100295,BC113595,BC126113 NP_064603,NP_001092303,EAW51622,BAB71070,CAB99093,AAH37418,AAI13596,AAI26114,Q14CW9,Q8IY68,Q96N40 Hs.512651 DKFZp761G2113 protein-coding 1345348 ATXN7L4 ataxin 7-like 4 15489334,15115762,14702039,12690205,12477932 222255 Q8N2T0,Q9BTQ8 NM_152749,AC005099,AC007030,CH236947,CH471070,AK095475,BC030616 NP_689962,EAL24404,EAL24405,EAW83370,EAW83371,EAW83372,EAW83373,EAW83374,AAH30616,Q8N2T0,Q9BTQ8 Hs.489603 MGC33190 protein-coding 1603419 ATXN8 ataxin 8 17853106,16804541 724066 DQ641254 ABG34539,Q156A1 Hs.645205 protein-coding 1346559 ATXN8OS ataxin 8 opposite strand SCA8 is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. 16804541,16054804,15732096,15152344,15148151,14966165,14960773,14756671,12545428,12505613,12431257,12140678,11919683,11807410,11708995,11697524,10888605,10192387 6315 NR_002717,AL160391,AF126749 Hs.676453 KLHL1AS|SCA8 miscrna 1314501 AUH AU RNA binding protein/enoyl-Coenzyme A hydratase AU-specific RNA-binding enoyl-CoA hydratase (AUH) protein binds to the AU-rich element (ARE), a common element found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. 1599425,1580863 7892223,16640564,16381901,16344560,15489336,15489334,15033206,12655555,12477932,12434311,11738050,11076863,10072761,9108262 1599425 549 NM_001698,AL158071,AL353645,AL513353,CH471089,AV751432,BC020722,BG706374,CR620952,DA724873,X79888 NP_001689,EAW62794,EAW62795,AAH20722,CAA56260,Q13825,Q5VYU7,Q5VYU8,CAL38298,ABM82962,ABM86153 Hs.175905 GDB:572838 protein-coding 1348320 AUNA1 auditory neuropathy, autosomal dominant 1 15520414 378942 1602731 AUP1 ancient ubiquitous protein 1 This gene encodes a protein that contains a domain with homology to the ancient conserved region of the archain 1 gene and a domain that may be involved in binding ubiquitin-conjugating enzymes. The protein encoded by this gene has been shown to bind to the conserved membrane-proximal sequence of the cytoplasmic tail of integrin alpha(IIb) subunits. These subunits play a crucial role in the integrin alpha(IIb)beta(3) inside-out signalling in platelets and megakaryocytes that leads to platelet aggregation and thrombus formation. This gene overlaps the gene for mitochondrial serine protease 25. 15489334,14702039,12534238,12534237,12477932,12042322,11042152,8812468,17353931 550 NM_181575,AC005041,CH471053,AF100746,AF100753,AF100754,AF165515,AI206563,AK023983,AK055566,AK293121,BC001658,BC033646,CR590508,CR592597,CR594250,CR595050,CR598997,CR599426,CR601374,CR602231,CR606924,CR607651,CR608478,CR608730,CR610588,CR612162,CR612507,CR613319,CR615352,CR619279,CR621843,CR622018,CR623109,CR623243,CR999537,CR749661 NP_853553,EAW99622,EAW99623,EAW99624,EAW99625,AAD43010,AAD43017,AAD43018,AAF86645,BAB14753,BAF85810,AAH01658,AAH33646,Q5XKR6,Q68CX8,Q9Y679,CAH18454 Hs.411480 GDB:1316853 protein-coding 1353168 AURKA aurora kinase A The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. 1580863,1643348,1643346 12244051,15987997,15504738,9153231,18466087,15880741,15867347,15860351,15944763,15839305,15802297,15793587,15754349,15749021,15688402,15598762,15592510,15536123,15534106,15489336,15489334,15469940,15466974,15289843,15271856,15271853,15190214,15173575,15147269,15128871,15087379,15078988,15041727,14990569,14744757,14692019,14667408,14603251,14580337,13678582,13678575,12927815,12883693,12881723,12833450,12716366,12693093,12684414,12631597,12559175,12490715,12477932,12467573,12354758,12237287,12198151,12177045,11976319,18361916,18361427,18314619,18284933,18043979,18027856,18019715,17974987,17957726,17935280,17926144,17925329,17914111,17909067,17908995,17898866,17850717,17786310,17705509,17686574,17673924,17634535,17634533,17634283,17627006,17599395,17591802,17563743,17505013,17488622,17465238,17457043,17452972,17438137,17433255,17390048,17333265,17229885,17219423,17143471,17125279,17120309,17113223,17102620,18431743,17060449,17060341,17018785,17003782,16951231,16912073,16894566,16890155,16860930,16849685,16772293,16574658,16572587,16412566,16411056,16381901,16377583,16337122,16332542,16158051,16082213,16080195,16049965,16011022,15966895,11903063,11847097,11790771,11784863,11780052,11551964,11413462,11256614,11076863,11039908,10377410,9771714,9605851,9514916,9174055,15064709,17353931 1643348,1643346 6790 BU542363,CB113289,CB138172,CR611278,CR616247,CR621289,D84212,NM_003600,NM_198433,NM_198435,NM_198434,NM_198437,NM_198436,AF011467,AF195947,AL121914,CH471077,AF008551,AF011468,AL711075,BC001280,BC002499,BC006423,BC027464,BF029182,BM458030,BQ435059,BU171303 BAA23592,O14965,Q0JUI5,Q5QPD1,Q5QPD2,Q5QPD3,Q5QPD4,Q5QPD5,CAL37826,ABM82196,ABM85384,NP_003591,NP_940835,NP_940837,NP_940836,NP_940839,NP_940838,AAC23448,AAF29508,CAC12717,CAI19324,CAI19326,CAI19327,EAW75550,EAW75551,EAW75552,EAW75553,EAW75554,EAW75555,EAW75556,EAW75557,EAW75558,EAW75559,EAW75560,EAW75561,EAW75562,AAC12708,AAC63902,AAH01280,AAH02499,AAH06423,AAH27464 Hs.250822 AIK|ARK1|AURA|AURORA2|BTAK|MGC34538|STK15|STK6|STK7 protein-coding 1606265 AURKAIP1 aurora kinase A interacting protein 1 12244051,17957726,17452972,16710414,16341674,15489334,15342556,15271856,14702039,13678582,12477932,8681137 54998 NM_017900,NM_001127229,NM_001127230,AC026283,AL139287,CH471183,AJ573456,AK000615,AW576100,BC022808,BC035595,BC046345,BC062333,BE903314,BF664406,BG764236,BM781908,BP198074,DN994953,F31434 NP_060370,NP_001120701,NP_001120702,CAI23191,EAW56218,EAW56219,BAA91289,AAH22808,AAH46345,AAH62333,Q6PI41,Q9NWT8 Hs.515704,Hs.632515,Hs.658138 AIP|AKIP|FLJ20608 protein-coding 1350150 AURKAPS1 aurora kinase A pseudogene 1 359935 1352749 AURKAPS2 aurora kinase A pseudogene 2 386665 NG_003111,AC005383 STK6LP pseudo 731309 AURKB aurora kinase B Chromosomal segregation during mitosis as well as meiosis is regulated by kinases and phosphatases. The Aurora kinases associate with microtubules during chromosome movement and segregation. Aurora kinase B localizes to microtubules near kinetochores, specifically to the specialized microtubules called K-fibers, and Aurora kinase A (MIM 603072) localizes to centrosomes (Lampson et al., 2004 [PubMed 14767480]).[supplied by OMIM] 1580863 12689593,17686574,16291752,17726378,17617734,17558394,17488622,17457057,17356064,17235564,17215513,17164288,17094487,17084365,17001311,16980585,16916643,16912073,16764853,16762323,16572587,16565220,16222316,16222244,16179389,16179162,16171786,16046481,15993841,15923616,15922328,15917996,15699543,15597762,15562011,15509656,15499654,15489334,15280424,15263015,15249581,15130946,15072448,15064709,15033491,14767480,14722118,14674694,14610074,14602875,12925766,12686604,12477932,12466558,12419797,12082625,11976319,11856369,11784863,11756469,11516652,11471245,11413462,9931403,9858806,9809983,9514916,15260989 9212 NM_004217,AC135178,CH471108,AB011446,AB011450,AF004022,AF008552,AF015254,AY677083,BC000442,BC009751,BC013300,BC080581,BT019534,CR591471,CR600836,CR603941,CR604968,CR605805,CR617702 NP_004208,EAW90073,EAW90074,EAW90075,EAW90076,EAW90077,EAW90078,EAW90079,BAA82709,BAA32136,AAB65786,AAC12709,AAC98891,AAH00442,AAH09751,AAH13300,AAH80581,AAV38341,Q96GD4 Hs.442658 AIK2|AIM-1|AIM1|ARK2|AurB|IPL1|STK12|STK5 serine/threonine kinase 12 protein-coding 1351049 AURKBPS1 aurora kinase B pseudogene 1 359937 1343852 AURKC aurora kinase C This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. 1580863 10066797,18309533,17637569,17435757,16258285,15938719,15917996,15670791,15499654,15316025,15057824,14671302,12884918,12477932,9809744,9799611 6795 NM_003160,NM_001015879,NM_001015878,AC005261,AY421575,CH471135,AB017332,AF054621,AF059681,AY661554,AY714054,BC075064,BX092186 NP_003151,NP_001015879,NP_001015878,EAW72485,EAW72486,BAA76292,AAC25955,AAC77369,AAT64422,AAU04399,AAH75064,Q5Y191,Q6AZY8,Q6DLZ0,Q9UQB9 Hs.98338 AIE2|AIK3|AurC|STK13|aurora-C protein-coding 1350656 AUTS1 autism susceptibility 1 9546821 8311 GDB:9864226 1320604 AUTS2 autism susceptibility candidate 2 1580863 12853948,12690205,12601173,12477932,12168954,12160723,9455477,8889548 26053 NM_015570,NM_001127231,NM_001127232,AC004773,AC004881,AC004927,AC006012,AC006317,AC006318,AC006319,AC006361,AC073148,AC073873,AC093487,AC093679,AC093685,CH236952,CH471140,AB007902,AF326917,AK025298,AY211931,BC011643,BC064693,BU608023 NP_056385,NP_001120703,NP_001120704,AAS02044,AAS00369,AAS00371,AAS07468,AAS07486,AAS07446,EAL23968,EAX07895,EAX07896,BAA23714,AAL37411,AAO65184,AAH11643,AAH64693,Q5D049,Q6PJU5,Q75L26,Q75MD7,Q75MQ3,Q75MQ4,Q75MQ7,Q8WXX7 Hs.654801 KIAA0442|MGC13140 protein-coding 1320536 AVEN apoptosis, caspase activation inhibitor 1580863 10949025,16388850,15761153,15489334,15345747,12477932 57099 AC010809,AC069045,CH471125,AF283508,AK025888,BC010488,BC063533,BU855198,CR618548,CR619789,AC009268,NM_020371 EAW92281,AAF91470,AAH10488,AAH63533,Q9NQS1,NP_065104 Hs.555966 GDB:11510531 PDCD12 protein-coding 731808 AVIL advillin The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. 1580863 9664034,18022635,15096633,14702039,12477932,12034507,11287316 10677 NM_006576,AC025165,CH471054,AF041449,AK022448,BC111730,BX647344 NP_006567,EAW97079,EAW97080,AAC25051,BAB14038,AAI11731,O75366,Q2NKM9,Q9HA21 Hs.584854 GDB:9958130 ADVIL|DKFZp779O1812|DOC6|FLJ12386|MGC133244|p92 pervin protein-coding 68968 AVP arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin II and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin II, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). 1579880,734624,1579871,1601243,1580863,1601303,1601304,1601305,1358326 8514868,8370682,8106369,8103767,8045958,7929452,7921229,7714110,7271787,6574452,6153132,4065330,3768139,3390991,2991279,2874053,2521920,1978246,1968469,1840604,8550751,1740104,8794883,18384079,18316776,18272843,17927668,16333859,15624761,15538939,15489334,15356057,15203290,15070970,14996841,14660745,14607844,14510916,13591312,12931042,12590641,12566732,12519420,12477932,12403649,12364435,12359138,12107248,12012274,11980620,11857925,11836335,11780052,11748489,11713645,11443218,11384615,11161827,11150885,11017955,10677561,10487710,10443701,10369876,9814475,9580132,9467595,9360520,8989232,14673472,8945633,8626836,8554046 1579880,734624,1579871,1601243,1601303,1601304,1601305,1358326 551 NM_000490,AL160414,CH471133,M11166,M63733,M63734,X62890,X62891,AF031475,AF031476,AI478178,BC018062,BC126196,BC126224,BG715518,M25647,X03172 NP_000481,CAC10205,EAX10554,AAA98772,AAA69844,CAA44681,CAA44682,AAB86628,AAB86629,AAH18062,AAI26197,AAI26225,AAA61291,CAA26935,P01185,Q0P6D8,Q9UEW6,Q9UMM9 Hs.89648 GDB:119009 ADH|ARVP|AVP-NPII|AVRP|VP arginine vasopressin protein-coding 1353971 AVPI1 arginine vasopressin-induced 1 8125298,15498874,15489334,15164054,12477932,12356727,9373149,9110174,8619474 60370 Q5T686 AF131791,AF218019,AF241786,AK024533,AK222493,AK223099,BC000877,CR591038,CR595926,CR596172,CR608629,CR614805,NM_021732,AL355315,CH471066 EAW49904,EAW49905,AAG17261,AAG44474,BAD96213,BAD96819,AAH00877,Q5T686,ABM82691,ABM85875,NP_068378,CAI15464 Hs.23918 PP5395|RP11-548K23.7|VIP32|VIT32 protein-coding 68986 AVPR1A arginine vasopressin receptor 1A The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. 734625,1579891,1580863,1358326 10858434,8106369,8838314,18490926,18384079,17939166,17728669,17653244,17440932,16721832,16565083,16520824,16333859,16205790,15994199,15489334,15098001,14757828,14622255,12869559,12477932,12436935,12082568,10756113,10478574,10477084,9581826,9357056,8344200,8074728,8012384 734625,1579891,1358326 552 NM_000706,AC135584,AF208541,CH471054,DQ177277,U19906,Z59305,AF030625,AF101725,AY322550,BC074803,BC074804,L25615,S73899 NP_000697,AAF18470,EAW97115,ABA02557,AAB19232,AAC51861,AAD17891,AAP84363,AAH74803,AAH74804,AAA62271,AAC60638,P37288,Q3S2J4,Q9UH72 Hs.2131 GDB:131474 AVPR1 protein-coding 619562 AVPR1B arginine vasopressin receptor 1B The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. 1579891,1580863,1300290,61542 10858434,7805841,7929452,17909131,17318384,16710414,15528211,15094789,12736162,12436935,11884209,10607899,10477084,9581826,9357056,8636444,8586456 1579891,1300290,61542 553 NM_000707,AF152238,BX571818,CH471067,DQ194816,AF030512,AF101726,D31833,DY317849,EU432111,L37112 NP_000698,AAF33681,CAH73262,EAW91596,EAW91597,ABA03171,AAB84293,AAD17892,BAA06621,ABY87910,AAA65687,P47901,AAI56079,AAI57127 Hs.1372 GDB:595004 AVPR3 protein-coding 730975 AVPR2 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. 1579891,1580863,734626,1298694,628560 8882880,8999963,10880054,9224808,1303257,10858434,10749568,18288441,17626156,17550212,17389737,17229917,17216256,17101063,17020465,16845277,16825342,16580609,16563128,16333859,16267275,16240160,16162341,16115624,15872203,15489334,15452133,15319442,15319430,14757828,12960162,12900404,12482593,12477932,12473660,12436935,12409230,11923476,11916004,11868598,11857925,11754100,11476731,11232028,11026555,10770218,10694923,10561596,10477084,9711877,9581826,9402087,9286695,8735975,8621513,8514744,8479490,8267567,8078903,8045948,8037205,7999078,7987330,7984150,7833930,7560098,2714800,1534150,1534149,1415251,1356229,1324225,1303271,15782186 1579891,734626,1298694,628560 554 NM_000054,CH471172,L22206,U04357,AF030626,AF032388,AF101727,AF101728,AY242131,BC015746,BC033090,BC041642,BC080603,BC101484,BC112181,BG830436,Z11687 NP_000045,EAW72783,EAW72784,EAW72785,AAA03651,AAC09005,AAB86428,AAB87678,AAD16444,AAD16445,AAO92298,AAI01485,AAI12182,CAA77746,O43192,P30518,Q9UCV9 Hs.567240 GDB:131475 ADHR|DI1|DIR|DIR3|MGC126533|MGC138386|NDI|V2R protein-coding 1349822 AVSD1 atrioventricular septal defect 1 9002679 7446 GDB:265302 736564 AXIN1 axin 1 This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin (cadherin-associated protein), beta 1, 88kDa, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Two transcript variants encoding distinct isoforms have been identified for this gene. 1300371,1580863,2293188 9601641,12192039,9230313,16188939,12072559,11955436,12000790,12820959,15327769,16753179,18171349,17768662,17720811,17418091,17143297,17018282,16868183,16773576,16772034,16601693,16293619,16169070,16163548,15981102,15698401,15616553,15579909,15526030,15520370,15489334,15355978,15262978,15064706,15063782,14970870,14630927,14566817,14534723,12897152,12883680,12805222,12771989,12717450,12556519,12555076,12554650,12477932,12223491,12209999,12138115,12101426,12036951,11997515,11884395,11809808,11719457,11557983,11487578,11438668,11336703,11297546,11157797,10829020,10811618,10700176,10698523,10581160,10488109,10330403,10228155,9920888,9734785,9482734,9335612,9054936,17353931 1300371,2293188 8312 NM_181050,NM_003502,AC004652,AC005202,AE006463,CH471112,Z69667,Z99754,AB208876,AF009674,BC017447,BC035872,BC044648,CR599188 NP_851393,NP_003493,AAK61224,EAW85835,EAW85836,CAI95589,CAI95590,CAQ09649,CAI95600,CAI95601,BAD92113,AAC51624,AAH17447,AAH44648,O15169,Q59H83 Hs.592082 GDB:9864780 AXIN|MGC52315 gsk-3beta interacting protein raxin protein-coding 1349667 AXIN2 axin 2 (conductin, axil) The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. 1580863,2293188 10049590,12072559,17373666,17143297,17072303,17002498,16941501,16820935,16601693,16432638,16247484,15766563,15611123,15489334,15042511,12477932,12183362,11940574,11474173,11017067,10966653,10647780,8889548,15304487 2293188 8313 NM_004655,AC115994,CH471099,AB052751,AF078165,AF205888,AK025718,BC101533,CB306601,CR933657 NP_004646,EAW89003,EAW89004,EAW89005,EAW89006,BAB19762,AAD20976,AAF22799,AAI01534,CAI45956,Q5H9R8,Q9Y2T1 Hs.156527 GDB:9864782 AXIL|DKFZp781B0869|MGC126582 protein-coding 1323764 AXL AXL receptor tyrosine kinase The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. Although it is similar to other receptor tyrosine kinases, this protein represents a unique structure of the extracellular region that juxtaposes IgL and FNIII repeats. It transduces signals from the extracellular matrix into the cytoplasm by binding growth factors like vitamin K-dependent protein growth-arrest-specific gene 6. It is involved in the stimulation of cell proliferation and can also mediate cell aggregation by homophilic binding. Alternatively spliced transcript variants encoding different isoforms have been identified. 1579938,1580863,1579881,1579882 1656220,18172262,17255529,17005688,16831897,16641895,16585512,16556867,16362042,16354588,16344560,16308569,16227584,15964779,15958209,15733062,15605394,15507525,15130893,14750094,14729616,14565870,12826617,12768229,12490074,12477932,12470648,8621659,8610109,8381225,8247543,7822279,7521695,2247464,1834974,1729376,16189514,12364394,12029073,11290560,9492013,9178760,9130617 1579938,1579881,1579882 558 NM_021913,NM_001699,AC011510,CH471126,X66030,AL556721,BC032229,DA478638,M76125,S65125,X57019,X66029 NP_068713,NP_001690,EAW57022,EAW57023,CAA46829,AAH32229,AAA61243,AAB20305,CAA40338,P30530,Q15839,Q8N5L2,Q9UD27,ABM85043 Hs.590970 GDB:133764 JTK11|UFO protein-coding 1345749 AXPC1 ataxia, posterior column 1, with retinitis pigmentosa 9409377,9921862 559 GDB:9862760 1314362 AXUD1 AXIN1 up-regulated 1 This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. 1580863 11526492,17726538,15489334,12477932 64651 NM_033027,AC092053,CH471055,AB053121,AB063301,AL117565,BC028213,BC038949,BG536908,CR590589 NP_149016,EAW64565,EAW64566,EAW64567,EAW64568,EAW64569,EAW64570,BAB61065,BAB79450,CAH10719,AAH28213,AAH38949,Q69YY5,Q8N6U0,Q96S65 Hs.370950 GDB:11505665 DKFZp566F164|FAM130B|TAIP-3|URAX1 protein-coding 1343191 AZF1 azoospermia factor 1 560 GDB:119027 1342951 AZF2 azoospermia factor 2 561 GDB:456131 735517 AZGP1 alpha-2-glycoprotein 1, zinc-binding 17724461,16740002,16598739,16475792,16335952,15620688,15477100,15340161,15084671,14983038,14760718,14718574,13689030,12853948,12690205,12477932,11425849,10594376,10462714,10206894,9813179,9328826,9239523,9114041,8889548,8307568,8241150,6896906,3422450,2049092,1918940,1915885,16189514 563 AC004522,CH236956,CH471091,D14034,X69953,AA583051,AI678968,BC005306,BC005908,BC014470,BC033830,BM796305,CB305376,D90427,M76707,X59766,NM_001185 EAL23862,EAW76621,EAW76622,EAW76623,BAA03123,CAA49574,AAH05306,AAH05908,AAH33830,BAA14417,AAA61311,CAA42438,P25311,Q5XKQ4,Q8N4N0,NP_001176 Hs.546239 GDB:128308 ZA2G|ZAG alpha-2-glycoprotein 1, zinc protein-coding 1345717 AZGP1P1 alpha-2-glycoprotein 1, zinc-binding pseudogene 1 8307568,8241150 564 AW995302 Hs.546239 GDB:138289 pseudo 1350566 AZGP1P2 alpha-2-glycoprotein 1, zinc pseudogene 2 8241150,8307568 565 GDB:270687 1346806 AZI1 5-azacytidine induced 1 1580863 14654843,17081983,16964243,15489334,12477932,10470851,9070930,8889548,8529672 22994 AC027601,CH471099,AB029041,AI955901,BC010413,NM_001009811,NM_014984,BC011615,BC012130,BC040023,BE732160,BE734213,BG773915,BU742835,BX394713 NP_055799,EAW89631,EAW89632,BAA83070,NP_001009811,AAH11615,Q9UPN4 Hs.514578 AZ1|Cep131 protein-coding 1605352 AZI2 5-azacytidine induced 2 AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM] 17982077,17142768,15611223,15489334,14743216,14702039,14560022,12477932,10580148 64343 NM_022461,AC098616,AF044917,AF044918,CH471055,CS185540,AK025592,AK290637,AY151386,BC001139,BC001853,BG777644,BX648471,CR598106,CR613279,CR618873,CR623051 NP_071906,AAF22368,AAF22369,EAW64392,EAW64393,EAW64394,EAW64395,EAW64396,EAW64397,EAW64398,CAJ42721,BAB15182,BAF83326,AAO05967,AAH01139,AAH01853,Q9H6S1 Hs.708030 AZ2|NAP1|TILP(S)|tilp protein-coding 731863 AZIN1 antizyme inhibitor 1 Ornithine decarboxylase (ODC) catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. Ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. The protein encoded by this gene is highly similar to ODC. It binds to ODC antizyme and stabilizes ODC, thus inhibiting antizyme-mediated ODC degradation. Two alternatively spliced transcript variants have been found for this gene. 633333,1580863 17353931,15489334,14702039,12878157,12477932,10623564,9349715,9110174,8619474,14499622 633333 51582 BC019279,BC042404,BT006858,CR456745,CR613500,D88674,NM_148174,NM_015878,AP003354,AP003356,AP003696,CH471060,AF070634,AK095493,AK290516,AU280209,BC013420 AAH19279,AAP35504,CAG33026,BAA23593,O14977,Q6IBQ7,ABM81650,ABM83131,ABM83132,ABM86326,NP_680479,NP_056962,EAW91851,EAW91852,EAW91853,AAC25391,BAF83205,AAH13420 Hs.459106 GDB:11506361 MGC3832|MGC691|OAZI|OAZIN|ODC1L ornithine decarboxylase antizyme inhibitor protein-coding 1345072 AZU1 azurocidin 1 (cationic antimicrobial protein 37) Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. The protein encoded by this gene is an azurophil granule antibiotic protein, with monocyte chemotactic and antibacterial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. 1580863 11994286,10534120,12465046,1518849,12351811,12135665,12054586,11980855,11891183,11170199,10572086,9761855,9095193,8621683,8506327,2501794,2406527,2404977,2332502,2312733,2226832,2049091,2026172,1897955,1755383,10510329,11861296,12678126,1919011,12826073,15879141,15489334,15304323,15057824,15020208,14515154,12477932,12438368 566 NM_001700,AC004799,CH471139,M96326,BC044940,BC069495,BC093931,BC093933,X58794 NP_001691,EAW69592,AAB59353,AAH44940,AAH69495,AAH93931,AAH93933,CAA41601,P20160,Q86SR2,Q9UCM1,Q9UCT5 Hs.72885 GDB:135033 AZAMP|AZU|CAP37|HBP|HUMAZUR|NAZC protein-coding 735892 B2M beta-2-microglobulin Beta-2-microglobulin is a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells (Gussow et al., 1987 [PubMed 3312414]).[supplied by OMIM] 1601306,1599429,1601309 17852800,17766066,17693474,17681531,17646174,17641012,17597407,17543888,17499801,17498802,17373663,17348447,17244347,17108084,16919295,16901902,16891806,16846219,16841247,16740750,16704420,16601119,16549777,16518752,16511243,16509252,16491092,16475820,16403526,16375919,16331970,16322574,16126222,16122756,16108498,16098535,16053447,16046408,16024039,15766269,15667222,15623356,15616564,15610257,15498554,15494406,15489334,15249659,15194307,15185972,14699107,14698299,14681859,12968074,12118248,1737380,15569716,11513152,15304001,18393655,18342332,18257814,18215070,18211100,18036353,18024396,18022010,17929129,12958308,12911560,12897781,12860118,12860117,12850147,12833155,12818210,12738401,12531797,12516095,12488093,12480959,12480693,12477932,12471623,12464008,12454016,12192077,12119416,12085191,12023961,12006623,11967567,11967566,11943769,11914379,11894933,11877296,11849381,11847272,11801591,11738047,11676539,11502003,11257307,11169396,10948205,10933786,10791995,10731476,10515878,10221650,10199391,10064069,9751712,9714695,9605335,9545232,9228302,9110174,8769474,8624812,8619474,8432869,8076819,7862664,7554280,6171820,4586824,3312414,3309677,3060434,3048575,2674742,2450918,2413854,2289831,2038058,1448153,1390678,93026,16189514 1601306,1599429,1601309 567 CR613955,CR614402,CR614556,CR615574,CR615578,CR615729,CR616171,CR616437,CR618556,CR619071,CR619828,CR620994,CR621079,CR623073,CR624595,CR625152,CR626821,DQ839493,DQ884406,S54761,S82297,S82300,V00567,X07621,CR613782,NM_004048,AC025270,AC122108,AF072097,CH471082,DQ217933,M17987,AB021288,AI686916,AK026463,AY007153,AY187687,BC032589,BC064910,BU658737,CR457066,CR590254,CR591572,CR592576,CR592679,CR593405,CR593761,CR593874,CR594444,CR596238,CR596347,CR596444,CR596717,CR597808,CR599099,CR599510,CR599875,CR603043,CR603887,CR604110,CR604555,CR604705,CR604949,CR605353,CR606667,CR607236,CR608139,CR608197,CR610094,CR610959,CR612132,CR612519,CR613616 ABI63354,ABI63373,AAB25312,AAD14387,AAD14388,CAA23830,P61769,Q16446,Q9UCK0,Q9UD48,Q9UM88,ABM92168,ABM84637,Q540F8,Q6IAT8,NP_004039,AAD48083,EAW77276,EAW77277,EAW77278,ABB01003,AAA51811,BAA35182,AAG02006,AAO20842,AAH32589,AAH64910,CAG33347 Hs.709313 GDB:119028 beta-2 microglobulin protein-coding 1352190 B2MR beta-2-microglobulin regulator 7061176 568 GDB:119029 1312449 B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. 9582303,16344560,15489334,15142124,14702039,12975309,12477932,12023287,10993897,10580128,9405390,9373149,8125298,6425294,2829950,2649653,2542563,2541446,2187500 8706 AK223439,AW151434,AY359049,BC028571,BC047618,CR457170,DA188324,DB172381,Y15062,AK095917,NM_033168,NM_003781,NM_033167,NM_001038628,NM_033169,NG_007854,AC021649,AF494103,AF494104,AF494105,AF494106,AY505344,AY505345,AY505346,AY505347,CH471052,DQ158095,AB050855,AB050856,AB060691,AF132731,AF154848,AI093705,AI214215,AK022491 BAD97159,AAQ89408,AAH28571,AAH47618,CAG33451,CAA75346,O75752,Q49AT3,Q53F50,Q6RBZ9,Q6RC00,Q6RC01,Q6RC02,Q7L9G8,Q8NFM9,Q8NFN0,Q8NHI0,Q8TDY1,NP_149358,NP_003772,NP_149357,NP_001033717,NP_149359,AAM96009,AAM96010,AAM96011,AAM96012,AAS79228,AAS79229,AAS79230,AAS79231,EAW78621,EAW78622,EAW78623,EAW78624,EAW78625,AAZ67917,BAB17690,BAB17691,BAB91079,AAF66442,AAF72106,BAB14055 Hs.418062 GDB:9956693 B3GALT3|GLCT3|GLOB|Gb4Cer|P|P1|beta3Gal-T3|galT3 udp-gal:betaglcnac beta 1,3-galactosyltransferase, polypeptide 3 protein-coding 1345395 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 16710414,15489334,14724282,14702039,12477932 148789 NM_152490,AL135928,AL672237,CH471098,AB209046,AK091497,AK130297,BC016974,BC029564 NP_689703,CAI21727,CAI21728,EAW70026,EAW70027,EAW70028,BAD92283,AAH16974,AAH29564,Q8NCR0 Hs.585040 B3GalNAc-T2|MGC39558 protein-coding 1323596 B3GALT1 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. 1580863 15815621,15489334,12477932,10580128,10356986,9582303,9417100,2829950,2649653,2542563,2541446,2187500,12925779 8708 NM_020981,AB041407,AC016723,CH471058,AF117222,BC101545,BC104813,E07739 NP_066191,BAA94492,AAY15002,EAX11306,EAX11307,AAD23451,AAI01546,AAI04814,Q9Y5Z6 Hs.657258 GDB:9956701 MGC126594|beta3Gal-T1 protein-coding 1347261 B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. 1580863 9417100,16710414,15489334,12477932,11318611,10580128,9582303,2829950,2649653,2542563,2541446,2187500 8707 NM_003783,AL390863,CH471067,CS265714,AF288390,BC022507,Y15060 NP_003774,CAH71590,EAW91251,CAJ78385,AAG60610,AAH22507,CAA75344,O43825 Hs.518834 GDB:9956697 BETA3GALT2|GLCT2|beta3Gal-T2 protein-coding 1343637 B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. 1580863 9582303,16303743,15489334,14574404,12477932,10663566,10580128,8889548,2829950,2649653,2542563,2541446,2187500 8705 NM_003782,AB022537,AL662820,AL662827,AL844527,CH471081,CR759786,CR759817,AB026730,AF063595,AK075312,BC032574,BU740293,CR457093,CR619620,Y15061 NP_003773,CAI18111,CAI17515,CAI41849,EAX03700,CAQ08252,CAQ08022,BAA88988,AAG43154,AAH32574,CAG33374,CAA75345,O96024,Q5STJ7,Q9H3I9,ABW03644,ABW03296 Hs.534375 GDB:9956691 DJ1033B10.3|Gal-T2|GalT4|beta3GALT4|beta3Gal-T4 protein-coding 1315510 B3GALT5 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes the most probable candidate for synthesis of the type 1 Lewis antigens which are frequently found to be elevated in gastrointestinal and pancreatic cancers. The encoded protein is inactive with N-linked glycoproteins and functions in mucin glycosylation. Five transcript variants have been described which differ in the 5' UTR. All transcript variants encode an identical protein. 1580863 10212226,16780588,16112824,15489334,15263012,14534330,12477932,10830953,10580128,10406968,2829950,2649653,2542563,2541446,2187500 10317 NM_033171,NM_033172,NM_033173,NM_006057,NM_033170,AB041413,AB041416,AF064860,AF145784,AJ006078,AL163280,CH471079,AB020337,AK292951,AY372061,BC104862,BC104864 NP_149361,NP_149362,NP_149363,NP_006048,NP_149360,BAA94498,BAA94501,AAF07880,CAB91547,CAB90446,EAX09628,EAX09629,EAX09630,EAX09631,EAX09632,BAA77664,BAF85640,AAR08910,AAI04863,AAI04865,Q53Z19,Q9Y2C3 Hs.655094 GDB:9956292 B3GalT-V|B3GalTx|B3T5|GLCT5|beta3Gal-T5 protein-coding 1319963 B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1580863 11551958,16710414,12477932,9892646 126792 NM_080605,AL162741,CH471183,BC015549,BC041621,BC051719,BE249959,BF002665,BG290330 NP_542172,CAI23255,EAW56269,AAH15549,AAH51719,Q499Z2,Q96BI9,Q96L58,AAI60034 Hs.284284 GDB:11505667 beta3GalT6 protein-coding 1604745 B3GALTL beta 1,3-galactosyltransferase-like Many eukaryotic proteins and lipids are modified with specific oligosaccharide side chains, called glycans, before they acquire full biologic activity. B3GALTL belongs to a family of glycosyltransferases that synthesize glycans by sequentially adding monosaccharides to the oligosaccharide chain (Heinonen et al., 2003 [PubMed 12943678]).[supplied by OMIM] 18199743,17032646,16909395,16899492,16344560,15489334,15057823,14702039,12943678,12477932 145173 NM_194318,AL137142,AL138965,CH471075,AA769548,AB101481,AK094979,AK291273,AV728071,AY190526,BC031597,BC032021,BC047395,BC068595,BX647932,DA290408,DN999521 NP_919299,CAI12432,EAX08483,BAD13528,BAF83962,AAO37647,AAH68595,Q6Y288,Q76HA9 Hs.13205 B3GTL|B3Glc-T|Gal-T|beta3Glc-T protein-coding 733365 B3GAT1 beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. 10783264,18201430,17567734,17035093,16807373,16257185,15879103,15626024,14993226,12883721,12874601,12687271,12477932,12433688,11986319,11788581,10946001,10526176,9110174,8619474 27087 NM_054025,NM_018644,AP003971,AB029396,AF131769,AL834455,BC010466,CR457098 NP_473366,NP_061114,BAA96077,CAD39115,AAH10466,CAG33379,Q8ND18,Q96FS7,Q9P2W7,ABM84250,ABM86204,ABM87639 Hs.381050 GDB:10795878 CD57|GLCATP|GlcAT-P|GlcUAT-P|HNK-1|HNK1|LEU7|NK-1 protein-coding 1348026 B3GAT2 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. 1580863 16897771,16344560,15470230,15039073,14702039,14574404,12522689,12477932,11853319 135152 NM_080742,AL121961,AL450320,AY070110,CH471051,AB075843,AK055248,AK290018,AY070019,BC101163,BC101165,BC113995,DA782678 NP_542780,CAI42145,CAI39582,AAL58977,EAW48804,BAB85549,BAB70889,BAF82707,AAL57718,AAI01164,AAI01166,AAI13996,Q08EQ7,Q08EQ9,Q29RV3,Q9NPZ5 Hs.708102 GDB:11508591 GLCATS|GlcAT-S|KIAA1963|MGC138535 protein-coding 1323698 B3GAT3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. 1580863 10842173,17567734,15601778,15522873,15489334,12794088,12477932,11535117,10946001,10526176,9927678,9506957,16189514 26229 NM_012200,AP001458,CH471076,AB009598,AJ005865,AK075166,BC007906,BC011173,BC019832,BC071961,CR591171,CR592820,CR593367,CR596079,CR598262,CR598436,CR608174,CR609724,CR622950,CR625454 NP_036332,EAW74042,EAW74043,EAW74044,BAA34537,CAA06742,AAH07906,AAH19832,AAH71961,O94766,Q5U676 Hs.502759 GDB:10795879 GLCATI|GlcAT-I protein-coding 1319932 B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. 1580863 16344560,16303743,15489334,12477932,9405606,9373149,8125298 11041 NM_006876,AP001107,CH471076,DQ066422,AF029893,AK075354,AK098389,AK098779,AK225182,BC021965,CR591559,CR602074,CR617432,CR623114,DA169103 NP_006867,EAW74517,EAW74518,AAY46155,AAC39538,AAH21965,O43505,ABM83632,ABM86883 Hs.8526 GDB:9956271 B3GN-T1|B3GNT6|BETA3GNTI|iGAT|iGNT udp-glcnac:betagal beta-1,3-n-acetylglucosaminyltransferase 6 protein-coding 1320774 B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. 1580863 16335952,15560372,15489334,14759258,14702039,14686931,14555842,12855703,12477932,12464682,11042166,10580128,9892646 10678 CH471053,AB049584,AF092051,AF288208,AF288209,AJ006077,AK002009,BC030579,BC047933,NM_006577,AC018462,AC093401 EAW99977,EAW99978,EAW99979,EAW99980,BAB21530,AAD09764,AAF97253,AAF97254,CAB91546,BAA92031,AAH30579,AAH47933,Q54AC1,Q9NY97,NP_006568,AAX93271 Hs.173203 GDB:9958131 B3GN-T1|B3GN-T2|B3GNT|B3GNT-2|B3GNT1|BETA3GNT udp-glcnac:betagal beta-1,3-n-acetylglucosaminyltransferase 1 protein-coding 1313012 B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. 1580863 10072769,17827388,16344560,16303743,15489334,12975309,12477932,11439191,11042166,10737800,10580128,9373149,8125298 10331 NM_014256,AC008761,CH471106,AB015630,AB049585,AF293973,AJ130847,AJ278961,AK075434,AK075466,AK225421,AK225478,AW848963,AY358955,BC066876,BC067423,CR611299,DA385410,DB104034 NP_055071,EAW84631,BAA76497,BAB21531,AAK00849,CAC45044,CAC82374,AAQ89314,AAH66876,AAH67423,Q9Y2A9 Hs.69009,Hs.657825 GDB:9956365 B3GAL-T8|B3GN-T3|B3GNT-3|HP10328|TMEM3|beta3Gn-T3 protein-coding 1320043 B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. 14702039,12975309,12477932,11042166,10580128 79369 NM_030765,AC048338,AF321825,CH471054,AB049586,AJ130848,AJ278962,AK095746,AL834452,AY358940,BC030247,BC031399,CR591685 NP_110392,AAL37219,EAW98308,EAW98309,BAB21532,CAC45045,CAC82375,BAC04622,CAD39112,AAQ89299,AAH31399,Q9C0J1,ABM82210,ABM85395 Hs.363315 GDB:11504407 B3GN-T4|beta3Gn-T4 protein-coding 735674 B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. 70806,1580863 15342556,14702039,12477932,11283017,8889548,11384981 70806 84002 NM_032047,AC069417,CH471052,AB045278,AB209517,AF368169,AJ304505,AK074235,AK074424,AK091474,BC028058,BF001695,BP270576,BU684277 NP_114436,EAW78333,EAW78334,EAW78335,EAW78336,BAB40940,BAD92754,AAK53403,CAC83093,AAH28058,Q9BYG0,ABM81996,ABM85178 Hs.208267 GDB:11508793 B3GN-T5|beta3Gn-T5 protein-coding 1601928 B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 11821425,16344560,15755813,12477932 192134 NM_138706,AP000752,CH471076,AB073740,AK127544,AK172863,AK292773,BC025357,BC103908,BC103909,BC103910,DA437068 NP_619651,EAW75013,BAB88882,BAC87028,BAD18819,BAF85462,AAH25357,AAI03909,AAI03910,AAI03911,Q6ZMB0 Hs.352622 B3Gn-T6|IMAGE:4907098|MGC119334|MGC119336|MGC119337 protein-coding 1321569 B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 1580863 17690104,15815621,14706853,12061784 93010 NM_145236,AC017104,CH471063,AF502430,AK000770,AK126207 NP_660279,AAY24246,EAW70958,EAW70959,AAM61770,Q8NFL0,AAI40378,AAI48681 Hs.299329 GDB:11508320 beta3GnT7 protein-coding 1313364 B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 1580863 15620693,15486459 374907 NM_198540,AC011462,AB175895,AJ419172,AY277592 NP_940942,BAD86525,CAD11601,AAP34405,Q7Z7M8,AAI56489 Hs.441681 B3GALT7|BGALT15|beta3Gn-T8 protein-coding 1603899 B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 15560372,14702039,12477932,9110174,8619474 146712 NM_001009905,AC130371,CH471099,AK054757,AK126018,AY304503,AY634364,BC019623,BC035891,BC041588,BC065543,BC110528,BC110529,U79265 NP_001009905,EAW89827,EAW89830,BAC86395,AAQ74775,AAT47555,AAH19623,AAI10529,AAI10530,Q67FW5,Q6ZU32 Hs.512029 B3GNT8|MGC126253|MGC126256 protein-coding 731293 B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. 1580863,704404 8702839,1601877,17119850,12477932,11018043,10978536,10477274,8824296,8690719,8120069,16189514 2583 NM_001478,AC025165,CH471054,L76079,AB209460,AK127448,AK289690,BC029828,CR610248,CR622992,M83651 NP_001469,EAW97042,EAW97043,BAD92697,BAC86984,BAF82379,AAH29828,AAA35516,Q00973,Q59FK0,Q6ZSG9,Q8N636 Hs.591019 GDB:9834158 GALGT|GALNACT protein-coding 1354479 B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2 B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM] 1580863 12678917,14688233,16024623,17965433,15489334,12477932,11886838,8782649,2425965 124872 AJ517770,NM_153446,AC069454,CH471109,AF510036,AJ517771,BC113675,BC113677,S83275 NP_703147,EAW94690,EAW94691,AAM34756,CAD57148,CAD57149,AAI13676,AAI13678,AAN86706,Q8IVI2,Q8NHY0 Hs.374679 B4GALGT2|B4GALT|Cad|GALGT2|MGC142235|MGC142237|SD|Sda udp-galnac:neu5acalpha2-3galbeta-r beta1,4-n-acetylgalactosaminyltransferase protein-coding 1603523 B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3 17579116,16728562,15146197,14702039,12966086 283358 NM_173593,AC005844,AC006205,CH471116,AB089940,AK093503,AK097681,AK131277,CN400443 NP_775864,EAW88962,EAW88963,EAW88964,EAW88965,BAD02449,BAC04187,BAC05141,BAD18454,Q6L9W6,Q8N9V0,AAI56654 Hs.504416 B4GalNac-T3|FLJ16224|FLJ40362 protein-coding 1602277 B4GALNT4 beta-1,4-N-acetyl-galactosaminyl transferase 4 15044014,16728562,14702039 338707 NM_178537,XM_001129003,AC138230,CH471158,AB089939,AK057774,BC131528 NP_848632,XP_001129003,EAX02321,BAD06471,BAB71566,AAI31529,Q76KP1 Hs.148074 Beta4GalNAc-T4|FLJ25045|NGalNAc-T1 protein-coding 1349315 B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. 1599432,1580863 33805,2120039,7540104,10900002,6121819,3917437,17021253,16786197,16675551,16157350,15668241,15611127,15164053,12477932,11947697,11901181,11506180,11295846,10580128,9597550,8540625,7744867,7579794,3144273,3098628,3094506,3091013,2124683,1903938,1714903,1384956,2829950,2649653,2542563,2541446,2187500 1599432 2683 A23697,NM_001497,AL161445,CH471071,M70432,AY864848,BC034244,BC035442,BC045773,BX648438,D29805,M13701,M22921,U10472,U10473,U10474,X13223,X14085,X55415 Q86XA6,CAA01685,P15291,NP_001488,CAD13306,EAW58520,EAW58521,AAB00776,AAH45773,BAA06188,AAA35935,AAA35936,AAA35937,AAA68218,AAA68219,AAA68220,CAA31611,CAA32247,CAA39073,CAA39074 Hs.651277 GDB:119981 B4GAL-T1|DKFZp686N19253|GGTB2|GT1|GTB|MGC50983|beta4Gal-T1 protein-coding 1313336 B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Two transcript variants encoding the same protein have been found for this gene. 1580863 9405390,17470362,16710414,15939404,15504978,15489334,14702039,12477932,11588157,10580128,9597550,2829950,2649653,2542563,2541446,2187500 8704 NM_003780,NM_001005417,AL139220,AL357079,CH471059,AB024434,AF038660,AK074533,AK095873,AL137647,BC002431,BC096821,BQ222671,CR591692,CR607401,Y12510 NP_003771,NP_001005417,CAI19431,CAI19432,CAI16802,CAI16803,EAX07062,EAX07063,EAX07064,EAX07065,BAA75819,AAC39733,CAB70857,AAH96821,CAA73112,O60909 Hs.632403 GDB:9956688 B4Gal-T2|B4Gal-T3|beta4Gal-T2 protein-coding 1354334 B4GALT3 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. 1580863 9405390,17613536,16710414,15489334,14702039,12477932,11588157,10580128,9597550,2829950,2649653,2542563,2541446,2187500 8703 NM_003779,AL590714,CH471121,AB024435,AF020921,AF038661,AK023311,AK056851,AK092493,AK291455,BC000276,BC006099,BC009985,CR592876,CR599499,CR605946,CR607487,CR612341,CR614082,Y12509 NP_003770,CAH72145,EAW52628,EAW52629,EAW52630,EAW52631,EAW52632,EAW52633,EAW52634,BAA75820,AAQ13412,AAC39734,BAB14520,BAF84144,AAH00276,AAH06099,AAH09985,CAA73111,O60512,Q71VA3,ABM83420,ABM86632 Hs.321231 GDB:9956684 beta4Gal-T3 protein-coding 1317330 B4GALT4 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. 9792633,15489334,14702039,12975309,12477932,11588157,11337467,10580128,9597550,2829950,2649653,2542563,2541446,2187500 8702 NM_003778,NM_212543,AC083800,CH471052,AB024436,AF020920,AF022367,AF038662,AK001006,AK123182,AL833580,AU099090,AY359008,BC004523,BC062618,BX647468,CR626075,CR749555 NP_003769,NP_997708,EAW79575,EAW79576,BAA75821,AAG50147,AAC72493,AAC39735,AAQ89367,AAH04523,AAH62618,CAH18352,O60513 Hs.13225 GDB:9956680 B4Gal-T4|beta4Gal-T4 protein-coding 1320747 B4GALT5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. 1580863 9597550,17690104,17656364,16461357,15489334,15263012,14702039,12477932,12385586,11827452,11780052,10580128,9535717,9435216 9334 NM_004776,AB067772,AL035683,AL162615,CH471077,AB004550,AF038663,AF289556,AK054803,AK056333,BC074821,BC074873,BC104987,BC112265,BG939833,DR000345 NP_004767,BAC07182,EAW75653,EAW75654,BAA25006,AAC39736,AAL55740,AAH74821,AAH74873,AAI04988,AAI12266,O43286,Q7LFU8,Q8WZ36 Hs.370487 GDB:9956015 B4Gal-T5|BETA4-GALT-IV|MGC138470|beta4Gal-T5|beta4GalT-V|gt-V protein-coding 737376 B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. 1580863,1300048 9597550,15489334,12665801,12477932,12180132,10580128,10320813,2829950,2649653,2542563,2541446,2187500 9331 AC017100,CH471088,AB024742,AB209194,AF038664,AF069054,AF097159,BC069620,BC069642,BC074835,BC074884,NM_004775 NP_004766,EAX01267,EAX01268,EAX01269,BAA76273,BAD92431,AAC39737,AAC21570,AAD41695,AAH69620,AAH69642,AAH74835,AAH74884,Q59GB5,Q6NT00,Q6NT09,Q8WZ95,Q9UBX8 Hs.591063 GDB:9956008 B4Gal-T6|beta4Gal-T6 protein-coding 1354325 B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) linkage found in proteoglycans. Manganese is required as a cofactor. This enzyme differs from the other six beta4GalTs because it lacks the conserved beta4GalT1-beta4GalT6 Cys residues and it is located in cis-Golgi instead of trans-Golgi. Two single-nucleotide mutations were identified from a patient with the progeroid type of Ehlers-Danlos syndrome. 1599433,1580863 10506123,16583246,10438455,10473568,15522873,15489334,14702039,12975309,12477932,10894925,10580128,3631078 1599433 11285 NM_007255,AC139795,CH471195,AB028600,AF142675,AJ005382,AK022566,AK023506,AK095882,AK123092,AY358578,BC007317,BC062983,BC072403,CR594028,CR612279,CR617329,CR618705,CR626294 NP_009186,EAW84964,EAW84965,BAA83414,AAF22225,CAB56424,AAQ88941,AAH07317,AAH62983,AAH72403,Q9UBV7,ABM83936,ABM87255 Hs.455109 GDB:9957653 B4GAL-T7|XGALT-1|XGALT1|XGPT1|beta4Gal-T7 protein-coding 1602004 B9D1 B9 protein domain 1 The B9 protein function is not known. Identification of a conserved mouse homolog and representation in the EST database indicates that this transcript does represent a gene. This gene is located within the Smith-Magenis syndrome region on chromosome 17. 15231747,12477932 27077 NM_015681,AC124066,CH471212,AB030506,AI300844,BC002944,BI833202,CR606056 NP_056496,EAW50878,EAW50879,EAW50880,EAW50881,EAW50882,BAA82655,AAH02944,Q9UPM9 Hs.462445 B9|EPPB9 protein-coding 1603296 B9D2 B9 protein domain 2 17127412,12477932 80776 NM_030578,AC011462,CH471126,BC004157,BC004444 EAW57034,NP_085055,AAH04157,AAH04444,Q9BPU9 Hs.567596 ICIS-1|MGC4093 protein-coding 736795 BAALC brain and acute leukemia, cytoplasmic This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. 632264 17646667,16189514,15749074,15604894,15489334,14702039,12477932,11707601 632264 79870 NM_024812,AC025370,AF363578,NM_001024372,AP003550,CH471060,AF371319,AF371323,AK022077,AK093819,BC011517,BC014365,BC035038,BI548687,CR597062,CR606691,CR607637,CR613048,CR615298 NP_079088,NP_001019543,AAL50377,AAL50378,AAL50379,AAL50380,AAL50381,AAL50382,EAW91862,EAW91863,EAW91864,EAW91865,AAL50515,AAL50519,BAB13960,AAH11517,AAH35038,Q8WXS3,ABM84244,ABM87632 Hs.533446 GDB:11504483 FLJ12015 protein-coding 735913 BAAT bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. 734629,1580863 8034703,2037576,17495420,17256745,15489334,15164053,12810727,12763038,12704386,12477932,12239217,10884298,8954802,16189514 734629 570 NM_001701,NM_001127610,AL353621,AL359893,CH471105,AK315347,BC009567,BC039200,BC107424,BG565737,CB154234,CR541918,H62757,L34081 NP_001692,NP_001121082,EAW58943,EAW58944,EAW58945,EAW58946,AAH09567,AAI07425,CAG46716,AAC37550,Q14032,Q3B7W9,ABM82836,ABM86021 Hs.284712,Hs.709824 GDB:377630 BACAT|BAT|FLJ20300|MGC104432 bile acid-coenzyme a: amino acid n-acyltransferase protein-coding 1606566 BACE1 beta-site APP-cleaving enzyme 1 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Four transcript variants encoding different isoforms have been described for this gene. 10591214,15080893,12354787,10531052,10887202,18434550,18393796,18374657,18307033,18182766,18182389,18177262,18039469,17897958,17854420,17699523,17596706,17576410,17511654,17425515,17409228,17307738,17293612,17236572,17174011,17113083,16979658,16965550,16908986,16897184,16816111,16757811,16716081,16679558,16611980,16605258,16449801,16354928,16342950,16303743,16279945,16249081,16246054,16243299,16181410,16033761,16027115,15931081,15886016,15880353,15857888,15824102,15784960,15671026,15628850,15615712,15606899,15592644,15584902,15491607,15489334,15485862,15466887,15452128,15451669,15286784,15247262,15234966,15213451,15211591,15197182,15096037,15059977,15059975,15034149,14991462,14978286,14748707,14748006,14701757,10591213,10574461,10677483,10656250,14699153,14681914,14567678,14507929,12928915,12901838,12857759,12824768,12801932,12707937,12665519,12649271,12618121,12586838,12586836,12535780,12514700,12477932,12471021,12445809,12438920,12270690,12223024,12206667,12135764,12112088,12093293,12054559,12054507,11953458,11922623,11860271,11847218,11744168,11741910,11714100,11684351,11516562,11466313,11278841,11266439,11234778,11152683,11032903,11021803,10956649,10801872,10749877 23621 NM_138972,NM_138971,NM_138973,AP000892,AY162468,CH471065,CS027018,DQ007053,AB032975,AB050436,AB050437,AB050438,AB089958,AB177847,AF161367,AF190725,AF200193,AF200343,AF201468,AF204943,NM_012104,AF324837,AF338816,AF338817,AK075049,AL833810,BC036084,BC065492,BM996673,BQ005204 Q9P0D2,Q9ULS1,ABM82435,ABM85626,NP_036236,NP_620428,NP_620427,NP_620429,AAO23912,EAW67308,EAW67309,EAW67310,EAW67311,EAW67312,EAW67313,EAW67314,EAW67315,EAW67316,EAW67317,CAI61888,AAY16982,BAA86463,BAB40931,BAB40932,BAB40933,BAC81826,BAD66825,AAF28927,AAF04142,AAF13715,AAF17079,AAF18982,AAM54050,AAK38374,AAK38375,CAD38674,AAH36084,AAH65492,P56817,Q5W9H2,Q6YBQ9,Q76KP0,Q8IYC8,Q8NDU6,AAF26367 Hs.504003 ASP2|BACE|FLJ90568|HSPC104|KIAA1149 protein-coding 1350115 BACE2 beta-site APP-cleaving enzyme 2 Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of Down syndrome. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein by 2 proteases, one of which is the protein encoded by this gene. This gene localizes to the 'Down critical region' of chromosome 21. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease. Three transcript variants encoding different isoforms have been described for this gene. 1580863 10591213,12801932,10749877,10677483,17307738,17113083,16965550,16816112,16757812,16757811,16305800,16023140,15857888,15489334,15178331,14684825,12975309,12895444,12707937,12665519,12618121,12611455,12477932,12423367,12093293,11741910,11423558,11316808,11083922,10965118,10936190,10931940,10838186,10830953,10683441,10656250,10605825,8764598 25825 NM_138992,NM_138991,AL163284,AL163285,AL773572,AL773575,AL773578,AY769996,CH471079,AF050171,AF117892,AF178532,AF188276,AF188277,AF200192,AF200342,AF204944,AF212252,AK075539,AK292056,AY358927,AY429520,BC014453,BQ006998,CR622762,NM_012105 Q9NZL1,Q9NZL2,Q9Y5Z0,ABM86342,ABW03781,NP_036237,NP_620477,NP_620476,CAB90458,CAB90554,AAX14808,EAX09611,EAX09612,EAX09613,AAD45963,AAD45240,AAF29494,AAF35835,AAF35836,AAF13714,AAF17078,AAF26368,AAG41783,BAC11682,BAF84745,AAQ89286,AAH14453,Q5DIH8,Q8N2D4,Q9H2V8 Hs.529408 GDB:9989909 AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP protein-coding 1315457 BACH1 BTB and CNC homology 1, basic leucine zipper transcription factor 1 This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. Some exons of this gene overlap with some exons from the C21orf41 gene, which is transcribed in an opposite orientation to this gene but does not seem to encode a protein. 1580863 9479503,9544839,16780588,18483852,17881434,17664283,17504528,17065227,16771696,16724942,16530877,16430786,15734732,15613547,15489334,15465821,15464985,15175654,15068251,15068237,14660636,14504288,12872252,12511571,12477932,11069897,10830953,10669750,8889548,8887638,11301010,16964243 571 NM_001186,NM_206866,NM_001011545,AF124731,AL163249,AP000240,AP001705,CH471079,AA402241,AB002803,AF026199,AF026200,AF317902,AF317903,AI336948,AK291021,BC063307,BM837454,BU933041,CF890820,CR450303 NP_001177,NP_996749,NP_001011545,AAD14689,CAB90435,BAA95505,EAX09913,EAX09914,BAA24932,AAB84100,AAB84101,AAK08197,BAF83710,AAH63307,CAG29299,O14867,Q6ICU0,Q9BXM4,ABZ91995 Hs.154276 GDB:9836135 protein-coding 1319503 BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 1580863 17991429,17383980,17262715,17044046,17018862,16832351,15060166,14982850,14574404,12829606,11923289,11746976,10949928,10809773,10669750,8887638 60468 AL117342,AL121787,AL121941,AL158136,AL159164,AL353692,CH471051,AB208889,AF357835,AJ271878,NM_021813,AL512739 NP_068585,CAD92600,CAI21648,CAI16237,EAW48530,EAW48531,EAW48532,EAW48533,EAW48534,BAD92126,AAK48898,CAC28130,Q7Z6Q0,Q9BYV9,AAI66613 Hs.269764 GDB:11504485 protein-coding 735541 BAD BCL2-antagonist of cell death The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. 1580863,1300048,1579966,2292690,2292693,2292697,2292699,2292694,2292681,2292675,2292674,2292676,2292677,2292680,2292685,2292700,2292673,2292679 9973195,10949025,15231831,9388232,9381178,10195903,12657644,15183529,18006502,17927446,17900801,17696989,17696955,17670745,17557568,17544220,17541305,17499381,17446862,17438366,17420275,17404594,17393317,17287851,17110373,17011751,16978419,16949642,16932738,16908594,16847055,16843435,16785131,16767165,16728406,16710454,16603546,16484005,16403219,16297499,16189514,16148027,15901741,15849194,15767261,15751984,15731037,15489334,15226424,15033904,14967141,14767529,14702039,12965220,12954615,12931191,12897128,12842996,12754297,12477932,12239175,12115603,12087097,12084714,11994280,11878929,11839683,11781193,11717309,11583631,11544290,11483855,11410287,11278245,11206074,10949026,10880354,10837489,10837486,10811615,10611223,10579309,10558990,10521512,10407019,10381646,9878060,9651683,9463381,9369453,9305851,8929532,8929531,7834748,11739707,16445909,15078178,11689886,15694340,15705582,12137781,9824152,15574335,15721256,9130713,11494146 1579966,2292690,2292693,2292697,2292699,2292694,2292681,2292675,2292674,2292676,2292677,2292680,2292685,2292700,2292673,2292679 572 NM_032989,NM_004322,AP001453,CH471076,AF021792,AF031523,AK023420,AK291863,BC001901,BC095431,BE255791,BG748336,BT006678,CR541935,CR541959,U66879 NP_116784,NP_004313,EAW74233,EAW74234,EAW74235,EAW74236,AAB72092,AAB88124,BAF84552,Q92934,ABM86710,ABW03814,AAH01901,AAH95431,AAP35324,CAG46733,CAG46757,AAB36516,Q6FH21 Hs.370254 GDB:9120563 BBC2|BCL2L8 bcl-2 associated death agonist protein-coding 1313091 BAG1 BCL2-associated athanogene The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. At least three protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) start site, and alternative, downstream, AUG translation initiation sites. 1580863,2292908 11222862,8947043,18204076,17954934,17950682,17700523,17693608,17662274,17657847,17549665,17278878,16482527,16457154,16381901,16292491,16042572,15986447,15843891,15831476,15707960,15489336,15489334,15309313,15297164,15199607,15169918,15075668,14978028,14702039,14680805,14532969,14517289,12874020,12845674,12724406,12477932,12402153,12049201,11994280,11741305,11676916,11340068,11278763,11256614,11231577,11101523,11076863,10967105,10816573,10671488,10477749,10467399,9873016,9679980,9642262,9603979,9582267,9396724,9373149,9305631,8812483,8692945,8524784,8125298,7834747,16189514,15603737 2292908 573 AL161445,AL356472,CH471071,AF022224,AF116273,AK093238,AK096038,AK222749,BC001936,BC014774,BC073955,BG723775,CR600928,CR603873,NM_004323,CR605802,CR614940,CR618366,CR618567,U46917,Z35491 NP_004314,CAH72516,CAH72517,CAH72518,CAH72520,EAW58514,EAW58515,EAW58516,EAW58517,AAC34258,AAD25045,BAD96469,AAH01936,AAH14774,AAD11467,CAA84624,Q0VH05,Q53H32,Q5VXW3,Q5VXW4,Q5VXW5,Q5VZF1,Q99933,CAL37446 Hs.377484 GDB:1320256 RAP46 protein-coding 1343744 BAG2 BCL2-associated athanogene 2 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. 1580863 16169850,15489336,15489334,15271996,14702039,14574404,11256614,11230166,11076863,14743216,9873016,17353931,9873015,16381901,16207813 9532 NM_004282,AL031321,AL136311,CH471081,AF095192,AK001015,AK023735,AL050287,BC125039,CR533496,CR606486,CR612315,CR621395 NP_004273,CAI21565,CAI20515,EAX04475,AAD16121,CAB43388,AAI25040,CAG38527,O95816,Q0JUC8,CAL37573,CAL37883 Hs.55220 GDB:9957269 BAG-2|KIAA0576|MGC149462|dJ417I1.2 protein-coding 1317192 BAG3 BCL2-associated athanogene 3 BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. 1580863 9873016,10597216,18286539,18094623,18006506,17996194,17974966,17507989,17187345,17164298,17081983,16964243,16859681,16391524,16189514,16094384,15592455,15489334,15302935,12750378,12706811,12700638,12477932,11591653,11513873,10980614,9373149,8125298,11527400 9531 NM_004281,AC012468,CH471066,AF071218,AF095193,AF127139,AK222800,AK291333,AL137582,BC006418,BC014656,BC107786 NP_004272,EAW49382,EAW49383,AAF69592,AAD16122,AAF26839,BAD96520,BAF84022,CAB70824,AAH06418,AAH14656,AAI07787,O95817,Q53GY1,ABM84342,ABM87771 Hs.523309 GDB:9957267 BAG-3|BIS|CAIR-1|MGC104307 protein-coding 1350570 BAG4 BCL2-associated athanogene 4 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. 1580863,2292150 9915703,9873016,17366557,17178857,15489334,14559896,12875962,12706861,12477932,12058034,12017295,11527400,10508612 2292150 9530 NM_004874,AC084024,CH471080,AF095194,AF111116,AI640615,BC000800,BC038505 NP_004865,EAW63330,EAW63331,AAD16123,AAD05226,AAH38505,O95429 Hs.194726 GDB:9957265 BAG-4|SODD protein-coding 1321985 BAG5 BCL2-associated athanogene 5 The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. 1580863 9873016,15603737,15489334,14702039,12477932,10048485,9373149,9321400,8125298,7834747 9529 NM_001015048,NM_004873,NM_001015049,AL139300,CH471061,AA481394,AB020680,AF095195,AK001378,AK023145,AK225730,AK225741,BC044216,BC050551,BF941752,BG719955,BI561258 NP_001015048,NP_004864,NP_001015049,EAW81826,EAW81827,EAW81828,BAA74896,AAD16124,AAH44216,AAH50551,Q9UL15 Hs.5443 GDB:9957252 BAG-5 protein-coding 1344125 BAGE B melanoma antigen This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). 15704127,12676563,12477932,12461691,12115308,7895173 574 AF527552,AF527553,AF527554,BC107038,BC107039,BC113810,U19180,NM_001187,AF254983,AF499647,AF527550,AF527551 AAO32672,AAO32673,AAO32674,AAI07039,AAI07040,AAI13811,AAC50123,Q13072,Q29RY1,NP_001178,AAP30743,AAO32670,AAO32671 Hs.545789,Hs.624542,Hs.624543 GDB:512894 BAGE1 protein-coding 1349446 BAGE2 B melanoma antigen family, member 2 16963709,15489334,12909339,12676563,12477932,12461691 85319 NM_182482,AF218570,BC101132,BC101133 NP_872288,AAL55648,AAI01133,AAI01134,Q86Y30 Hs.545789 GDB:11505669 protein-coding 1351944 BAGE3 B melanoma antigen family, member 3 12676563,12477932,12461691,7895173,16009131 85318 AF339514,BC101134,NM_182481 AAO32634,AAI01135,Q86Y29,NP_872287 Hs.545789 GDB:11508797 protein-coding 1342618 BAGE4 B melanoma antigen family, member 4 12676563,12461691,7895173 85317 NM_181704,AF254983,AF339515 NP_859055,AAO32635,Q86Y28 Hs.545789 GDB:11508798 MGC119851|MGC119852|MGC119853|MLL3P protein-coding 1348044 BAGE5 B melanoma antigen family, member 5 12676563,12461691,7895173 85316 NM_182484,AF339516 NP_872290,AAO32636,Q86Y27,AAI56847 Hs.545789 GDB:11505671 protein-coding 1606249 BAHCC1 BAH domain and coiled-coil containing 1 14702039,12477932,10819331,12421765 57597 NM_001080519,AC110285,AC139149,AC153475,CH471099,AB040880,AF086116,AK026711,AK056636,AL713748,BC033222,BC050673 NP_001073988,EAW89652,BAA95971,BAB15535,AAH33222,Q9H5T5,Q9P281 Hs.514580 BAHD2|FLJ23058|KIAA1447 protein-coding 1345980 BAHD1 bromo adjacent homology domain containing 1 737633,1580863 16189514,12477932,12421765,10231032,8889548 737633 22893 NM_014952,AC013356,CH471125,AB023162,AL833923,BC022782,BU740533 NP_055767,EAW92416,EAW92417,EAW92418,BAA76789,CAD38779,AAH22782,Q8TBE0 Hs.22109 KIAA0945 protein-coding 1313737 BAI1 brain-specific angiogenesis inhibitor 1 Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators. BAI1 contains at least one 'functional' p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas 1580863 15203201,14980512,9647739,9790924,10343108,11245925,7531056,14702039,12543931,12507886,12074842,11937501,11875720,10748157,9772287,9533023,9393972 575 NM_001702,AC139676,CH471162,AB005297,AK123982 NP_001693,EAW82323,BAA23647,O14514,AAI56201 Hs.194654 GDB:9838088 FLJ41988 protein-coding 1319770 BAI2 brain-specific angiogenesis inhibitor 2 BAI1, a p53-target gene, encodes brain-specific angiogenesis inhibitor, a seven-span transmembrane protein and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities and may also play a role in angiogenesis. 1580863 15203201,12218411,16710414,16344560,14702039,14697242,12543931,12508107,12477932,10964907,9533023 576 NM_001703,AB065648,AC114488,AL354919,CH471059,AB005298,AK123392,BC009035,BC014780,BE379230,CR602649,CR623649,DA314854 NP_001694,BAC05874,CAI16890,EAX07589,EAX07590,EAX07591,EAX07592,EAX07593,EAX07594,BAA25362,AAH09035,O60241,Q96GZ9 Hs.524138 GDB:9838089 protein-coding 1320187 BAI3 brain-specific angiogenesis inhibitor 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. 1580863 15203201,15489334,12477932,12168954,9628581,9533023 577 NM_001704,AL035469,AL078598,AL133378,AL158051,AL160401,AL356117,AL359714,AL391807,AL589875,CH471051,AB005299,AB011122,AK289696,BC111720,CR600879,CR603474,CR740925,DB446627 NP_001695,CAC34969,CAI19625,CAH73864,CAH71772,CAH71522,CAI21673,EAW48836,EAW48837,BAA25363,BAA25476,BAF82385,AAI11721,O60242,Q5VY37 Hs.13261,Hs.703080 GDB:9838090 KIAA0550|MGC133100 protein-coding 732926 BAIAP2 BAI1-associated protein 2 The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This interaction at the cytoplasmic membrane is crucial to the function of this protein, which may be involved in neuronal growth-cone guidance. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. Alternative splicing of the 3'-end of this gene results in three products of undetermined function. 1580863 10460236,10332026,9373149,8125298,17353931,10343108,17371834,17115031,17003044,16713569,16702231,16189514,15673667,15635447,15592455,15489334,15324660,15289329,14752106,14702039,14667819,14596909,12884081,12598619,12504591,12477932,12054568,11696321,11157984,11130076,10814512 10458 NM_017451,NM_006340,NM_017450,AB104726,AC115099,AC127496,CH471099,AB015019,AB015020,AB017119,AB017120,AK023688,AK056888,AK222670,AK225612,BC002495,BC014020,BC032559,U70669 NP_059345,NP_006331,NP_059344,BAC57945,BAC57946,BAC57947,BAC57948,EAW89625,EAW89626,EAW89627,EAW89628,BAA36586,BAA36587,BAA74773,BAA74774,BAD96390,AAH14020,AAH32559,AAB93497,Q9UQB8,ABM84382,ABM87328 Hs.128316 GDB:9957062 BAP2|IRSP53 brain-specific angiogenesis inhibitor 1-associated protein 2 protein-coding 1352215 BAIAP2L1 BAI1-associated protein 2-like 1 17430976,17081983,15489334,15324660,12853948,12690205,12477932,10931946,9847074 55971 NM_018842,AC004841,AC093169,AC093799,CH236956,CH471091,AF119666,AK027109,AK027142,AK074419,BC013888 NP_061330,AAD20937,AAS07549,AAS07550,EAL23890,EAW76706,EAW76707,AAF17223,BAB15671,AAH13888,Q9H5F5,Q9UHR4 Hs.656063 IRTKS protein-coding 1342805 BAIAP2L2 BAI1-associated protein 2-like 2 15489334,12975309,12477932,10591208 80115 NM_025045,NG_007094,AL022322,AL031587,CH471095,AK026235,AK026263,AW007403,AY358164,BC015619 NP_079321,CAI17932,CAI18966,EAW60216,EAW60217,BAB15405,AAQ88531,AAH15619,Q6UXY1,Q9H661 Hs.474822 FLJ22582 protein-coding 1318052 BAIAP3 BAI1-associated protein 3 This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. 9790924,16381901,15616553,15489336,15489334,12477932,12168954,11230166,11157797,11076863,9872452,9110174,8619474 8938 NM_003933,AE006467,AL031709,CH471112,AB018277,AF038191,AL834321,BC104966,BC112129 NP_003924,AAK61275,CAB56182,EAW85670,EAW85671,EAW85672,BAA34454,CAH56376,AAI04967,AAI12130,O94812,Q0JS02,CAL38712 Hs.458427 GDB:9957916 BAP3|KIAA0734|MGC138334 protein-coding 1353034 BAK1 BCL2-antagonist/killer 1 The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. 1580863,1643479 14702039,14647456,14596824,14574404,12881569,12847083,12808108,12624178,12624108,12477932,12454021,12297281,12176904,12070120,11964315,11940658,11932420,11929871,11908704,11867266,11795669,11728179,11571294,11326099,11175750,10639121,10579309,10381646,10365962,10085290,9878060,9573342,9463381,9020082,8521816,7715731,7715730,7715729,17353931,16189514,14980220,15637055,12137781,15846303,15901672,10837489,9843949,10381623,9111042,10950869,12721291,18056640,17991745,17927446,17880809,17724463,17699158,17698840,17686864,17513609,17235284,17227835,17188240,17074758,17015472,16988840,16978419,16874066,16847458,16794010,16645094,16529740,16439990,16436379,16410245,16376985,16341674,16172118,15846589,15757910,15638362,15638360,15489334,15478112,15467752,15351796,15322047,15248898,15194786,15159409,15124764,15077116,15003505 1643479 578 NM_001188,AY260471,CH471081,D88397,Z93017,AF520590,AK091807,AK292093,BC004431,BC032789,BC110337,BM855203,CB142221,CR457419,CR600490,CR608985,CR610168,CR615881,CR615932,U16811,U23765,X84213,CR627020 NP_001179,AAO74828,EAX03740,EAX03741,EAX03742,BAA13606,CAB65626,AAM74949,BAF84782,AAH04431,AAI10338,CAG33700,AAA74466,AAA93066,CAA58997,Q16611,Q2YD93,Q6I9T6,Q8NFF3,CAI46254,ABM83453,ABM86665 Hs.485139 GDB:635887 BAK|BAK-LIKE|BCL2L7|CDN1|MGC117255|MGC3887 protein-coding 1346993 BAMBI BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. 737633,1580863 15164054,14660579,12477932,12107411,9373149,8125298,15240101,10942595,8621228,16189514,15489334,15340161 737633 25805 NM_012342,AJ277487,AL161936,CH471072,U29189,AI680996,AK223065,AK290639,BC019252,BQ640107,BT006820,CR592169,CR592969,CR598096,CR598415,CR605506,CR606572,CR616386,CR617546,U23070 NP_036474,CAB89152,CAC16002,EAW86030,EAW86031,AAR02414,BAD96785,BAF83328,AAH19252,AAP35466,AAC50435,Q13145,Q53G66,Q9NXZ6 Hs.533336 NMA protein-coding 1342836 BANF1 barrier to autointegration factor 1 The protein encoded by this gene was identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The endogenous function of the protein is unknown. The protein forms a homodimer which localizes to the nucleus and is specifically associated with chromosomes during mitosis. This protein binds to DNA in a non-specific manner and studies in rodents suggest that it also binds to lamina-associated polypeptide 2, a component of the nuclear lamina. 632371,1580863 12091904,16291214,9465049,12228227,15479846,18005698,17519288,16371512,16337940,16204256,16203725,16155580,15681850,15635413,15546916,15489334,15130582,15109603,14645565,14523012,12663813,12493765,12477932,12163470,11792822,11792821,11005805,10924106,10908652,10651245,10393804,9783751,9740667,9521877,7937898,16738646,16680152,16403635,16075307,15875659,16189514 632371 8815 NM_003860,AP006287,CH471076,AF044773,AF068235,AF070447,BC005942,BC008705,BC107702,CR542140,CR611359 NP_003851,EAW74483,EAW74484,EAW74485,EAW74486,AAC08964,AAD15901,AAC23575,AAH05942,AAI07703,CAG46937,O75531 Hs.433759 BAF|BCRP1|D14S1460|MGC111161 protein-coding 1348743 BANF1L1 barrier to autointegration factor 1-like 1 414169 1350560 BANF1P1 barrier to autointegration factor 1 pseudogene 1 9740667 317687 AL117694 BCRG1|BCRP1|D14S1460|D14S1460E pseudo 1317375 BANF2 barrier to autointegration factor 2 16337940,15489334,12477932,11780052 140836 NM_001014977,NM_178477,AL132765,AL160071,CH471133,BC054871,BC062735 NP_001014977,NP_848572,EAX10271,EAX10272,AAH54871,AAH62735,Q9H503 Hs.115366 GDB:11505200 BAF-L|BAF-Like|BAF2|BAFL|C20orf179|MGC62093|MGC72082 protein-coding 1342509 BANK1 B-cell scaffold protein with ankyrin repeats 1 BANK1 is a B-cell-specific scaffold protein and LYN (MIM 165120) tyrosine kinase substrate that promotes tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors (see ITPR1; MIM 147265) (Yokoyama et al., 2002 [PubMed 11782428]).[supplied by OMIM] 18204447,16344560,15489334,14702039,12477932,11782428 55024 NM_017935,NM_001083907,NM_001127507,AC095062,AC109928,AP002075,CH471057,AA768944,AB063170,AK000713,AK091523,AK093024,AK292133,AL834291,AW574859,BC032241,DA109829,DA946668,EU051376 NP_060405,NP_001077376,NP_001120979,EAX06127,EAX06128,BAB79255,BAA91337,BAC03685,BAF84822,CAD38965,AAH32241,ABW74340,Q8NDB2,ABM81992,ABM85173 Hs.480400 BANK|FLJ20706|FLJ34204 protein-coding 1316673 BANP BTG3 associated nuclear protein This gene encodes a protein that binds to matrix attachment regions. The protein functions as a tumor suppressor and cell cycle regulator. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 16344560,16189514,16166625,15701641,15623522,15371550,15146197,14702039,12494467,12477932,10950932,10940556,8889549 54971 NM_079837,NM_017869,XM_001718410,AC127455,AC134312,CH471114,AK001039,AK094158,AK125232,AL157429,BC009424,BC018247,CN289917,DA632793,T49823 NP_524576,NP_060339,XP_001718462,EAW95364,EAW95365,EAW95366,EAW95367,EAW95368,EAW95369,EAW95370,BAC04296,CAB75653,AAH09424,Q8N9N5,Q9NSS6,ABM84102,ABM87474 Hs.461705 DKFZp761H172|FLJ10177|FLJ20538|SMAR1|SMARBP1 protein-coding 1323652 BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) The protein encoded by this gene localizes to the nucleus and it interacts with the RING finger domain of the breast cancer 1, early onset protein (BRCA1). This gene is thought to be a tumor suppressor gene that functions in the BRCA1 growth control pathway. There are multiple polyadenylation sites found in this gene. 1580863 9528852,15489334,15302935,14702039,12800201,12477932,12168954,12160938,10546591,9373149,9039502,8125298 8314 NM_004656,AC092045,AJ011861,CH471055,AB002534,AF045581,AK092725,AK094499,AK225494,AK292608,AY130008,BC001596,BX647318,D87462,D88812 NP_004647,EAW65220,EAW65221,BAB46926,AAC15970,BAF85297,AAN05092,AAH01596,BAA13401,BAB46921,Q92560,Q96TC6,ABM83471,ABM86682 Hs.106674 GDB:9837764 DKFZp686N04275|FLJ35406|FLJ37180|HUCEP-13|KIAA0272|hucep-6 protein-coding 736238 BARD1 BRCA1 associated RING domain 1 This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. 734631,1580863 12419249,15782130,8944023,10026184,10477523,15184379,15265711,15905410,15632137,14976165,18481171,18089818,17972171,17678435,17556008,17550235,17497650,17399677,17333333,17275994,17185394,17028982,16825437,16768547,16672066,16344560,16333312,16152612,16061562,15886201,15855157,15815621,15665273,15489334,15383276,15342711,15218362,15159397,14647430,14638690,14560035,14550946,12890688,12781370,12732733,12611903,12485996,12477932,12438698,12431996,12183411,12154023,11943588,11927591,11925436,11807980,11779501,11777930,11773071,11573085,11498787,11257228,10764811,10362352,9798686,9425226,9373149,9342365,8889548,8125298,14636569,12951069,12887909,12700228,11526114,11504724,11278247,10635334,9738006,11799067 734631 580 NM_000465,AC016708,AF038034,AF038035,AF038036,AF038037,AF038038,AF038039,AF038040,AF038041,AF038042,CH471063,AK223409,BC126426,BC126428,BU677525,BX098964,CR621362,DB088853,U76638 NP_000456,AAX93130,AAB99978,EAW70519,BAD97129,AAI26427,AAI26429,AAB38316,A0AVN2,Q53F80,Q99728 Hs.591642 GDB:9835932 brca1-associated ring domain protein 1 protein-coding 733588 BARHL1 BarH-like homeobox 1 1580863 17353931,14702039,10814725 56751 NM_020064,AJ237816,AL354735,CH471090,AF321618,AF325688,AK054797 NP_064448,CAB92439,CAI16566,EAW88005,AAK52674,AAG50279,BAB70807,Q5T6V2,Q9BZE3 Hs.283809 GDB:10449604 protein-coding 1344726 BARHL2 BarH-like homeobox 2 1580863 15489334,12477932,10814725 343472 NM_020063,AC092805,AJ251753,CH471097,AY338397,BC126439,BC126441 NP_064447,CAB92440,EAW73123,AAQ01189,AAI26440,AAI26442,Q9NY43 Hs.451956 GDB:10449606 protein-coding 1322041 BARX1 BARX homeobox 1 This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. 1580863 10995576,17486624,12477932 56033 NM_021570,AL357073,CH471089,AF213356,BC009458,BC064363,CR592249 NP_067545,CAQ06883,CAQ06884,EAW62873,AAG23738,AAH09458,AAH64363,Q5VXQ6,Q6P2R4,Q96GH8,Q9HBU1 Hs.164960 GDB:10449602 protein-coding 1350102 BARX2 BARX homeobox 2 This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. 1580863 14744868,14702039,12477932,11278942,10854790,10644443,9122247 8538 NM_003658,AF171222,AP003775,CH471065,AF031924,AJ243512,AK022187,BC069378,BC111432,BC111572 NP_003649,AAF09453,EAW67743,AAC04705,CAB50736,AAH69378,AAI11433,AAI11573,Q6NT51,Q9UMQ3 Hs.591944 GDB:9865683 MGC133368|MGC133369 protein-coding 1347703 BASP1 brain abundant, membrane attached signal protein 1 This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. 1580863 9749536,17081983,15489334,14701728,12477932,10965107,9310187 10409 NM_006317,AC026785,AC091878,CH471102,CS300636,AF039656,BC000518,BG704783,BM888431,BT019340,BT019341,CR609916,CR613035 NP_006308,EAX08012,EAX08013,CAK32300,AAC67374,AAH00518,AAV38147,AAV38148,P80723,ABM85492,ABW03753 Hs.201641 GDB:9956912 CAP-23|CAP23|MGC8555|NAP-22|NAP22 protein-coding 737407 BAT1 HLA-B associated transcript 1 This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and also plays an important role in mRNA export from the nucleus to the cytoplasm. A cluster of genes, BAT1-BAT5, is localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants encoding the same protein have been described. 727748,1580863 7601445,14667819,15047853,18240960,17562711,17517687,16949217,16478985,16169070,16101831,15998806,15969671,15843211,15635413,15585580,15489334,15338056,15324660,15296731,15028669,14574404,14559993,12944400,12477932,11979277,11790298,11675789,11380625,11170743,10343160,9373149,9242493,8125298,8012384,2911734,2813433,14499622 727748 7919 AP000506,BX001040,BX248516,BX927320,CH471081,NM_080598,AB088115,AB103621,AB202112,CR753820,CR753864,AL662847,CT009531,Y14768,Z60417,AB209217,AK127767,AK222912,AF029061,AF029062,AL662801,NM_004640,BC013006,BT009909,BU628632,CR590279,CR591582,CR592436,CR596330,CR600093,CR601722,CR606599,CR608752,CR612427,CR612476,CR614717,CR618145,CR620111,CR623314,CR625065,Z37166,BC000361 CAI17664,CAI17665,CAI17670,CAI17672,BAB63306,CAI18634,CAI18636,CAI18638,CAI41922,CAI41923,CAI41924,CAI41927,CAQ09974,CAQ09975,CAQ09976,EAX03404,EAX03407,EAX03408,EAX03409,EAX03410,EAX03411,NP_004631,NP_542165,BAC54953,BAF31287,BAE78637,EAX03413,CAQ07176,CAQ07177,CAQ07178,CAQ10634,CAQ10635,CAQ10636,CAQ09735,CAQ09736,CAQ09737,CAQ09738,CAQ09739,CAQ09740,CAQ09741,CAA75074,BAD92454,BAD96632,AAB94615,AAC63046,CAI18279,CAI18280,CAI18281,CAI18282,CAI18283,CAI18284,CAI18285,CAI18286,AAH00361,AAH13006,AAP88911,CAA85523,Q13838,Q59G92,Q5HYT6,Q5HYT7,Q5HYT8,Q5HYT9,Q5HYU0,Q5RJ61,Q5RJ65,Q5STA0,Q5STA1,Q5STA2,Q5STU1,Q5STU2,Q5STU3,Q5STU9,Q7KYK3,ABM82807,ABM85993 Hs.254042 GDB:11415848 D6S81E|DDX39B|UAP56 hla-b-associated transcript 1a protein-coding 1350670 BAT2 HLA-B associated transcript 2 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. 1580863 14667819,16713569,17827388,17081983,16964243,16116311,16083285,15842729,15752841,15489334,15302935,15077289,14656967,14574404,12477932,11556964,10987645,10949724,8889548,8499947,2813433,2156268 7916 NM_080686,AF129756,AL662801,AL662847,AL805934,BA000025,BX511262,CH471081,M33512,M33518,Z15025,AA909001,AB210034,AF075059,AI383939,BC030127,BC032134,BC042295,BC060668,BG423867,BM555411,BU684558,BX474290,CR591545,CR594210,CR749245,DC345271,M31293,M33509 NP_542417,AAD18086,CAI18313,CAI17698,CAI18500,BAB63391,CAI95572,EAX03448,EAX03449,EAX03450,EAX03451,EAX03452,AAA35586,CAA78744,BAE06116,AAH30127,AAH32134,AAH42295,AAH60668,CAH18101,AAA35585,P48634,Q4V332 Hs.123239,Hs.436093 GDB:6963325 D6S51|D6S51E|DKFZp686D09175|G2 protein-coding 1351775 BAT2D1 BAT2 domain containing 1 15747776,14702039,12477932,12443540,10470851 23215 BC026108,BC045713,BC058930,BC066968,CB158511,AL021579,AL049762,CH471067,AB029019,AF253978,AF488829,AK000190,AK022492,AK095231,AK124374,AL096857,AL133635,AL162004,BC001260,BC006090,NM_015172 AAH06090,AAH45713,AAH58930,Q05DM8,Q49A39,Q5TI97,Q5TI98,Q5TI99,Q6PD54,Q9H2N2,Q9HA05,Q9NSM8,Q9NXL3,Q9UF29,Q9UPQ6,Q9Y520,NP_055987,EAW90898,EAW90899,EAW90900,EAW90901,EAW90902,BAA83048,AAG44627,AAO49478,BAA90997,BAB14056,CAB51071,CAB63759,CAB82345 Hs.494614 BAT2-iso|XTP2 protein-coding 733092 BAT3 HLA-B associated transcript 3 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 14667819,15231747,17353931,18056262,18055229,17672918,17403783,17081983,16964243,16954377,16777091,16713569,16189514,16169070,15489334,15302935,15231748,14960581,14656967,14574404,12477932,11587531,11584289,11230127,10390159,2911734,2813433,2156268,1684176,15451437 7917 BA000025,BX511262,CH471081,M33520,M33521,BC003133,BF515863,BX384328,BX647244,CR595238,CR620621,CX758454,DB454794,DB459208,DB492350,M33519,AL670886,NM_004639,NM_080702,NM_001098534,AF129756,AL662801,AL662847,NM_080703,AL805934 CAO03665,BAB63390,CAM45799,CAM45800,EAX03453,EAX03454,EAX03455,EAX03456,EAX03457,EAX03458,EAX03459,EAX03460,AAA35588,AAH03133,CAI46045,AAA35587,P46379,Q5SQ38,Q5SQ39,Q5SQ40,Q5SQ42,Q5SQ43,Q5SRP7,Q5STB9,Q5STC0,Q5STX2,NP_542434,NP_004630,NP_542433,NP_001092004,AAD18085,CAI18314,CAI18315,CAI18316,CAI18318,CAM25589,CAM25590,CAM25591,CAM25592,CAM25593,CAM25594,CAM25595,CAM25596,CAM25597,CAM25598,CAM25599,CAM25600,CAM25601,CAM25602,CAM25603,CAM25604,CAI17658,CAI17659,CAI17660,CAI17661,CAO72102,CAO72103,CAO72104,CAO72105,CAI17784,CAI17785,CAI17786,CAI17787,CAI18501,CAI18503,CAI18504,CAI18505,CAI18506,CAI18508,CAI18509,CAO03653,CAO03654,CAO03655,CAO03656,CAO03657,CAO03658,CAO03659,CAO03660,CAO03661,CAO03662,CAO03663,CAO03664,CAO72106 Hs.440900 GDB:11415850 BAG-6|BAG6|D6S52E|G3 hla-b-associated transcript 3 protein-coding 1321766 BAT4 HLA-B associated transcript 4 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. 1580863 16189514,15489334,14702039,14656967,14574404,12477932,2911734,2813433 7918 NM_033177,AF129756,AL662899,AL670886,AL805934,BA000025,CH471081,CR354443,CR759761,AF087962,AJ420471,AK123707,BC008783,BC018875,CR594031,CR596414,CR598749,CR601462,CR602237,CR603430,CR605292,CR605834,CR609986,CR612576,CR618833,CR622551,CR626322 NP_149417,AAD18082,CAI18385,CAI17792,CAI17796,CAI18515,CAI18518,BAB63387,EAX03467,EAX03468,EAX03469,EAX03470,EAX03471,CAQ06995,CAQ10872,AAH08783,O95872,Q5SQ49,Q5SQ56,Q5SQ57,Q5SQ58,Q5SRQ1,Q5SRQ8,Q5SRQ9,Q5SRR0,ABM83602,ABM86844 Hs.247478 GDB:11415852 ANKRD59|D6S54E|G5|GPANK1|GPATCH10 protein-coding 1351609 BAT5 HLA-B associated transcript 5 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. 1580863 14667819,15231747,15498874,15489334,14702039,14656967,14574404,12665801,12477932,2911734,2813433,16189514 7920 CR598091,CR603472,CR604526,CR608283,CR615758,CR596175,NM_021160,AF129756,AL662899,AL670886,AL805934,BA000025,CH471081,AF193047,AK001207,AK023194,AK025398,AK055255,AK289469,BC031839,CR591644 O95870,ABM82251,ABM85435,NP_066983,AAD18079,CAI18401,CAM25666,CAI17808,CAM25029,CAI18530,CAO03670,BAB63383,EAX03482,EAX03483,EAX03484,AAG22475,BAA91553,BAB14455,BAF82158,AAH31839 Hs.388188 GDB:11415884 D6S82E|NG26 protein-coding 1312643 BATF basic leucine zipper transcription factor, ATF-like The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. 1580863 8570175,8630063,16189514,15489334,12809553,12719594,12594265,12508121,12477932,10777209,9745044,8954125 10538 NM_006399,AC007182,AF016898,CH471061,BC032294,D42106,U15460 NP_006390,AAD51372,AAC78243,EAW81234,AAH32294,BAA07686,AAC50314,Q16520 Hs.509964 GDB:9957599 B-ATF|BATF1|SFA-2 protein-coding 1602989 BATF2 basic leucine zipper transcription factor, ATF-like 2 16713569,16189514,14702039,12477932 116071 NM_138456,AP000436,CH471076,AK092453,AK092761,AK096702,BC011931,BC012330,CR612726 NP_612465,EAW74330,EAW74331,BAC03894,BAC03968,BAC04846,AAH12330,Q8N1L9,Q8NAF4,Q8NAL8 Hs.124840 MGC20410 protein-coding 1602111 BATF3 basic leucine zipper transcription factor, ATF-like 3 10878360,15467742,12805554,12477932,12087103 55509 NM_018664,AL591647,CH471100,AF255346,BC117489,BC117491 NP_061134,CAI17048,EAW93381,AAF73966,AAI17490,AAI17492,Q9NR55 Hs.62919 JDP1|JUNDM1|SNFT protein-coding 70373 BAX BCL2-associated X protein The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. 734633,734634,734632,1300048,1579984,1579966,1643353,1643354,1643355,2293026,2293073,1643352,1643356,2292907,2290557,2291908 18362350,18258596,18240345,18211414,18195012,18177350,18160666,18158779,18074738,18059532,18054155,18034190,18023359,18019411,18006836,18006817,18006502,17997990,17996028,17981213,17978676,17927572,17927446,17912641,17911107,17900801,17880809,17855051,17693666,17686764,17676485,17668322,17666167,17635912,17635522,17634542,17575222,17562177,17556360,17535899,17534116,17525161,17519046,17513609,17509221,17499214,17496930,17494694,17486058,17438390,17438366,17426704,17404017,17395004,17390059,17388661,17346710,17335847,17289842,17235284,17213822,17203211,17203183,17171827,17140287,17118768,17107772,17091766,17084966,17074758,17067385,17052454,17015762,17015472,16987815,16949642,16946732,16874066,16855163,16830365,16810067,16709574,16645094,16642033,16611260,16603637,9111042,16608847,11912183,15637643,10629050,11136736,16575548,16572399,16568093,16552754,16538501,16518869,16485142,16479009,16472763,16462759,16443387,16436379,16424160,16410245,16380996,16344548,16307838,16307023,16246184,16229013,16215676,16186627,16172118,16172114,16151013,16148027,16139338,16132718,16113678,16085058,16010425,15962362,15949439,15901672,15889622,15846375,15843890,15832769,15830715,15806163,14716828,14714449,14704000,14698203,14681224,14661970,14647455,14647416,14634023,14631373,14628086,14612938,14612448,14606101,14596892,14559989,14550297,14522999,12970744,12963997,12917444,12907654,12853473,12837286,12816867,12808108,12782632,12767928,12749011,12743423,12737446,12732850,12606781,12592374,12583439,12579342,12575534,12510156,12499352,12496485,12490315,12481899,12477932,12477729,12454021,12445631,12439925,12426317,12419244,12408758,14719078,15770735,15767261,15764647,15757910,15743760,15743033,15735709,15735127,15705586,15694358,15688029,15657356,15655830,15642728,15638363,15613549,15574335,15516208,15489334,15484294,15467752,15459197,15383280,15375604,15375594,15351796,15322047,15314639,15304079,15302859,15298965,15292938,15262986,15258908,15214043,15158440,15149158,15148411,15096513,15073604,15037603,15024076,15782132,15773546,14971737,14963330,14769861,14767525,14766748,14730312,12393866,12389125,12388688,12359369,12270344,12215842,12215338,12214154,12193163,12189556,12176904,12169275,12165421,12161031,12151395,12082629,12070030,12058280,12036888,12032841,12025227,12023951,11997495,11994280,11992551,11949842,11943780,11932420,12393884,11929871,11922616,11912124,11909872,11899739,11894116,11875499,11869962,11867266,11852106,11850816,11842081,11839683,11839668,11787859,11782443,11759062,11759059,11642719,11574543,11571294,11437653,11350920,11283018,11278245,11259440,11175336,11175251,11161816,11106734,11060313,10908576,10854321,10837489,10772918,10753914,10739008,10702418,10620603,10437917,10365962,10200447,9988273,9920818,9843949,9748162,11911971,9531611,9463381,9449720,9153240,9027312,9020077,8961277,8889548,8760290,8580080,8521816,8358790,7834749,7607685,7566098,15033690,11602639,10942389,15555592,16235026,17897954,16189514,15637055,12901880,12137781,9824152,15231068,9742125,9565621,14980220,11850803,10330179,16009130,15893728,15710329,14752512,9372935,15607964,9130713 734633,734634,734632,1579984,1579966,1643353,1643354,1643355,2293026,2293073,1643352,1643356,2292907,2290557,2291908 581 NM_138764,NM_138761,NM_138765,NM_138763,NM_004324,AC026803,AF008195,AF008196,AF020360,AF339054,AY217036,CH471177,AF007826,AF247393,AF250190,AI565203,AJ417988,AJ586909,AJ586910,AK291076,BC014175,BE396495,BM706954,CR595189,L22473,L22474,L22475,T29044,U19599 NP_620119,NP_620116,NP_620120,NP_620118,NP_004315,AAD01415,AAD01416,AAL73333,AAO22992,EAW52415,EAW52416,EAW52417,EAW52418,EAW52419,EAW52420,EAW52421,AAD22706,AAF71267,AAF82094,CAD10744,CAE52909,CAE52910,BAF83765,AAH14175,AAA03619,AAA03620,AAA03621,AAC50142,O95074,Q07812,Q5ZPJ0,Q5ZPJ1,Q8WXU1,Q9NYG7,Q9UEI8 Hs.631546 GDB:228082 protein-coding 1314679 BAZ1A bromodomain adjacent to zinc finger domain, 1A 1580863 17519354,17081983,16877760,14702039,12477932,10880450,10662543,10655480,11980720,12374985,12198550,15780937 11177 NM_182648,NM_013448,AL121603,AL355885,CH471078,AB032252,AB209255,AF086397,AF161435,AF213467,AF221130,AK027289,AL050089,BC020636,BC108711,CB217757 NP_872589,NP_038476,EAW65900,EAW65901,EAW65902,EAW65903,EAW65904,EAW65905,BAA89209,BAD92492,AAF28995,AAF70601,AAF32366,CAB43261,AAH20636,AAI08712,Q05CW0,Q32ND1,Q59G54,Q9NRL2,AAI56492 Hs.708029 GDB:9957039 ACF1|DKFZP586E0518|FLJ14383|WALp1|WCRF180|hACF1 protein-coding 1314248 BAZ1B bromodomain adjacent to zinc finger domain, 1B This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. 1580863 16514417,11124022,17081983,16603771,16565220,16252006,15635413,15543136,15302935,14702039,12853948,12837248,12477932,11980720,10662543,9858827,9847074,9828126 9031 AB032253,AF072810,AF084479,AK123274,BC041561,BC050599,BC065029,BC080544,CR623422,NM_032408,AC005074,AC005089,CH471200 BAA89210,AAC97879,AAD08675,AAH65029,Q6P1K4,Q86UJ6,Q9UIG0,NP_115784,AAD04720,AAP22332,EAW69679,EAW69680,EAW69681 Hs.694847 GDB:9028519 WBSCR10|WBSCR9|WSTF protein-coding 1312828 BAZ2A bromodomain adjacent to zinc finger domain, 2A 1580863 10662543,11532953,17672918,17081983,15489334,15302935,14702039,12477932,9205841,12198165 11176 NM_013449,AC090681,CH471054,AB002312,AF000422,AK023830,AK023842,AK127775,BC008965,BC065914,CD686304,CR612372,CR749379 NP_038477,EAW96949,EAW96950,EAW96951,BAA20773,AAB60864,AAH08965,CAH18232,Q68DI8,Q9UIF9,AAI52740 Hs.314263 GDB:9785555 DKFZp781B109|FLJ13768|FLJ13780|FLJ45876|KIAA0314|TIP5|WALp3 protein-coding 1320334 BAZ2B bromodomain adjacent to zinc finger domain, 2B 1580863 17081983,15489334,14702039,12477932,10819331,10662543,16189514 29994 AK127551,AL080173,AL834381,BC012576,BC068527,BC107570,BX641037,BX647250,NM_013450,AC008277,AC009506,CH471058,AB032255,AB040909,AK000386,AK027612,AK074895 CAB45759,CAD39044,AAH12576,AAI07571,CAE46023,Q3B7K5,Q53TG3,Q6MZK7,Q8NC87,Q9UIF8,AAI56488,NP_038478,AAY24281,EAX11403,EAX11404,EAX11405,EAX11406,EAX11407,BAA89212,BAA96000,BAB55231,BAC11274 Hs.470369 GDB:9957033 DKFZP434H071|DKFZp762I0516|FLJ45644|WALp4 protein-coding 735389 BBC3 BCL2 binding component 3 1580863 11463391,11463392,16608847,18215742,17996028,17698840,17616685,17393317,17388661,17368424,17360476,17267315,16983338,16462759,16151013,16091745,16007132,15905879,15731089,15731037,15694340,15595728,15574335,15547745,15143349,14634023,14585351,14550297,12963126,12574499,11572983,14993250,17011204,15721256 27113 NM_014417,NM_001127240,NM_001127241,NM_001127242,AC008532,CH471126,AF332558,AF354654,AF354655,AF354656,U82987 NP_055232,NP_001120712,NP_001120713,NP_001120714,EAW57465,EAW57466,EAW57467,AAK31316,AAK39542,AAK39543,AAK39544,AAB51243,Q96PG8,Q9BXH1 Hs.467020 GDB:11499183 JFY1|PUMA protein-coding 732171 BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. 1580863,1300048 9753662,10526231,17110165,16344560,15489334,12477932,7156861,6497835,3378057,3110383,1962562,1735445 8424 NM_003986,AC015756,AC016450,CH471064,AF082868,AK290108,BC011034,CR456812,DA268467,DQ471856,DQ471857,DQ471858,DQ471859,DQ471860,DQ471861,DQ471862,DQ471863,DQ471864,DQ471865,DQ471866,DQ471867,DQ471868,DQ471870 NP_003977,EAW68290,EAW68291,AAC64066,BAF82797,AAH11034,CAG33093,ABF17859,ABF17860,ABF17861,ABF17862,ABF17863,ABF17864,ABF17865,ABF17866,ABF17867,ABF17868,ABF17869,ABF17870,ABF17871,O75936,Q1KLS6,Q1KLT3,ABM83703,ABM87023 Hs.591996 GDB:9955127 BBH|BBOX|G-BBH|gamma-BBH gamma-butyrobetaine hydroxylase protein-coding 1316858 BBS1 Bardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. 1579968,1579969,1601314 17065520,15517396,15489334,15314642,14993910,14702039,12837689,12677556,12567324,12524598,12477932,12118255,11096143,10577922,10577921,9039982 1579968,1579969,1601314 582 NM_024649,AP002748,CH471076,AF503941,AK027243,AK027645,AK095638,BC047642,BC109064,BC109065,BX647612,CR625482 NP_078925,EAW74542,AAM92770,BAB15704,BAB55261,AAH47642,AAI09065,AAI09066,CAI46060,Q32MM9,Q4G0L2,Q5HYI2,Q8NFJ9,Q9H5C3 Hs.502915 GDB:270663 BBS2L2|FLJ23590|MGC126183|MGC126184|MGC51114 protein-coding 1605944 BBS10 Bardet-Biedl syndrome 10 17101080,16823392,16582908,16344560,15489334,14702039,12477932 79738 NM_024685,AC117491,CH471054,AI673014,AK027213,BC013795,BC026355,DA095453,DR155669 NP_078961,EAW97322,EAW97323,BAB15695,AAH13795,AAH26355,Q8TAM1 Hs.96322 C12orf58|FLJ23560 protein-coding 1603548 BBS12 Bardet-Biedl syndrome 12 17160889,14702039,12477932 166379 NM_152618,AC053545,CH471056,AK092949,AK123553,BC055426,BC065708,BX538148 NP_689831,EAX05223,EAX05224,BAC04006,BAC85644,AAH55426,CAD98035,Q6ZW61 Hs.400698 C4orf24|FLJ35630|FLJ41559 protein-coding 732435 BBS2 Bardet-Biedl syndrome 2 This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. 70665,734635,1601311,1579971,1580863 17003356,16189514,15489334,14702039,12872256,12837689,12677556,12567324,12477932,11567139,11285252,11096143,8889548,8298649 70665,734635,1601311,1579971 583 AB208905,AF342736,AK027635,AK127290,AK289604,AL834176,BC014140,BM982214,NM_031885,AC009155,AC026461,AC092140,CH471092 EAW82863,EAW82864,BAD92142,AAK28552,BAB55252,BAC86918,BAF82293,CAD38873,AAH14140,Q59H54,Q6ZSN0,Q8ND60,Q9BXC9,ABM83606,ABM86849,NP_114091 Hs.333738 GDB:229992 BBS|MGC20703 bardet-biedl syndrome 2 (human) protein-coding 1319306 BBS4 Bardet-Biedl syndrome 4 This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. 1579971,1601311 15107855,17003356,15497446,15489334,14702039,12872256,12477932,12365916,12016587,11381270,9126487,7711739,1138127,16189514 1579971,1601311 585 NM_033028,AC009712,CH471082,AF359281,AK075321,AY457143,BC008923,BC027624,BI562463,BX647855,CR594102 NP_149017,EAW77912,EAW77913,AAK58868,BAC11547,AAS13441,AAH08923,AAH27624,Q96RK4,ABM82445,ABM85635 Hs.208681 GDB:511199 protein-coding 1321789 BBS5 Bardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. 1579974,1580863 11256614,18203199,16381901,15815621,15489336,15489334,15342556,15137946,14702039,12477932,11230166,11076863,10053027,9888993,8889549 1579974 129880 NM_152384,AC093899,CH471058,CS300753,AA043704,AK097935,AL834305,AY604003,AY604004,BC044593,BP311042,CA336791,CD245392,H09195 NP_689597,AAY24116,EAX11276,EAX11277,EAX11278,EAX11279,CAK32417,CAD38975,AAT08182,AAT08183,AAH44593,Q0JTR4,Q8N3I7,CAL38098 Hs.233398 GDB:9836953 protein-coding 1319511 BBS7 Bardet-Biedl syndrome 7 Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. 1579975 15815621,15489334,14702039,12567324,12477932,11567139 1579975 55212 NM_176824,NM_018190,AC079341,CH471056,AF521643,AF521644,AK001577,BC032691,BF431967,BG720664,BM998707,BQ940332 ABM81814,ABM87809,NP_789794,NP_060660,AAY40970,EAX05244,EAX05245,AAO16025,AAO16026,BAA91767,AAH32691,Q8IWZ6 Hs.591694 BBS2L1|FLJ10715 2289563 BW441_H protein-coding 1603660 BBS9 Bardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. 18349106,16380913,15489334,14702039,12690205,12618763,12477932,10221542 27241 NM_198428,NM_001033605,NM_001033604,NM_014451,AACC02000103,AC006195,AC007312,AC074338,AC078833,AC087070,CH471073,U85997,AF095769,AF095770,AF095771,AK057660,AK091361,AL704922,BC032715,BC103831,BI254810,BX647385,U85994,U85995,U87408 NP_940820,NP_001028777,NP_001028776,NP_055266,EAL24466,EAL24467,EAW94015,EAW94016,EAW94017,EAW94018,AAB46606,AAD25980,AAD25981,AAH32715,AAI03832,AAB61918,AAB61919,AAB47568,Q3SYG4 Hs.372360 B1|C18|D1|MGC118917|PTHB1 protein-coding 1320282 BBX bobby sox homolog (Drosophila) 1580863 15489334,14702039,12477932,11680820,11230166,9110174 56987 NM_020235,AC068765,AC072044,AC117477,CH471052,AF161457,AF168718,AF276948,AF276949,AF283775,AF454941,AF454942,AK025944,AK026082,AK057010,AK130627,AK291757,AL136769,AL834307,BC012837,BC110903,BC131718 NP_064620,EAW79738,EAW79739,EAW79740,EAW79741,EAW79742,EAW79743,AAF29017,AAF87320,AAL68984,AAL68985,AAL58870,AAL58871,BAB15290,BAB15355,BAC85398,BAF84446,CAB66703,CAD38977,AAH12837,AAI10904,AAI31719,Q6ZNU6,Q8WY36,Q9H6A7,Q9H6G9,Q9NRU5,Q9P043 Hs.124366 GDB:11505672 HBP2|HSPC339|MDS001 protein-coding 1602312 BC37295_3 hypothetical BC37295_3 14702039 90485 NM_001005850,AC007228,AK023017 NP_001005850,AAD23609,Q9Y2P0 Hs.458438 protein-coding 68545 BCAM basal cell adhesion molecule (Lutheran blood group) Lutheran blood group glycoprotein is a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five, N-terminus, extracellular immunoglobulin domains, a single transmembrane domain, and a short, C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7777537,7954395,12493773,9166867,18067501,17638854,16584446,16335952,16236823,15790807,15489334,15278364,15238148,14755370,14641871,12754519,12477932,12244066,11133776,9642222,9192786,8781446,2907851,11319237 4059 NM_005581,NM_001013257,NG_007480,AC092306,AY845133,CH471126,AY927517,BC036745,BC050450,BU838291,BX387680,CR611746,X80026,X83425 NP_005572,NP_001013275,AAV88096,EAW57294,EAW57295,EAW57296,EAW57297,AAH50450,CAA56327,CAA58449,P50895 Hs.654540 GDB:120155 AU|CD239|LU|MSK19 protein-coding 736888 BCAN brevican 16133547,16061654,15489334,14741698,14702039,14550776,14522884,12975309,12477932,11873941,11054543,11038354,10986281,9294172,7592978,16189514 63827 NM_021948,NM_198427,AL365181,AL590666,CH471121,AB209570,AF228710,AF229053,AK126588,AK289759,AL137504,AW298823,AY007241,AY358372,BC009117,BC010117,BC010571,BC013234,BC022938,BC023209,BC027971,BC029313,BC029348,BC035457,BC005081 NP_068767,NP_940819,CAI13056,CAI13057,CAI13058,CAI13059,CAI13060,CAI16352,EAW52927,EAW52928,EAW52929,EAW52930,EAW52931,BAD92807,AAG23134,AAG23135,BAF82448,CAB70776,AAG01897,AAQ88738,AAH09117,AAH10571,AAH22938,AAH27971,Q59F90,Q5SZ10,Q5T3I5,Q5T3I7,Q5T3I8,Q8IWX2,Q96GW7,Q9NT67 Hs.516904,Hs.663621 BEHAB|CSPG7|MGC13038 protein-coding 1347055 BCAP29 B-cell receptor-associated protein 29 737633,1580863 18097552,15489334,14702039,12886015,12853948,12477932,11591653,10931946,8889548 737633 55973 NM_001008407,NM_001008406,NM_001008405,NM_018844,AC004839,CH236947,CH471070,AA826200,AF126020,AK000878,AK289401,AW978976,BC008478,BG616638,BG818947,BM023571,BQ188814,BQ230678,BT006981,BX457671,BX647653,CK820004,CR596696,CR611322,CR612097,CR623571 NP_001008407,NP_001008406,NP_001008405,NP_061332,AAC83971,EAL24390,EAW83405,EAW83406,EAW83407,EAW83408,EAW83409,EAW83410,EAW83411,EAW83412,AAF17230,BAF82090,AAH08478,AAP35627,Q9UHQ4 Hs.303787 BAP29|DKFZp686M2086 protein-coding 1349319 BCAP31 B-cell receptor-associated protein 31 1580863 8706661,17056546,16858427,16381901,15772651,15489336,15489334,15294914,15254227,15024066,14702039,12886015,12668660,12594175,12529377,12477932,11992258,11917123,11851433,11561007,11163199,11076863,11042173,10958671,9396746,9373149,9334338,9286695,8612576,8125298,7945388,7806238 10134 NM_005745,CH471172,U36341,AK057613,AK125631,AK222494,AK223059,BC014323,BC065292,BE729820,CR590688,CR598248,CR598532,CR599050,CR600013,CR601112,CR601278,CR602088,CR610622,CR621857,CR626431,X81109,Z31696,CR613288 NP_005736,EAW72818,EAW72819,EAW72820,EAW72821,EAW72822,EAW72823,EAW72824,EAW72825,AAA79508,BAD96214,BAD96779,AAH14323,AAH65292,CAA57015,CAA83501,P51572,Q0JUU4,Q53G72,Q53HT6,CAL37717 Hs.522817 6C6-AG|BAP31|CDM|DXS1357E protein-coding 734116 BCAR1 breast cancer anti-estrogen resistance 1 1579979,734988 9748234,10339567,10587647,11782456,14688263,16105984,8070403,8649368,9020138,9472046,10026197,16245368,9285683,10092204,9295052,10675905,10639512,11607844,18164686,18095869,18078823,17982677,17616674,17251438,17129785,17081983,17038317,16964243,16644720,16597701,16440329,16212419,16040804,15951569,15923424,15784259,15592455,15448007,15121874,14702039,12972425,12738793,12615911,12601080,12529399,12477932,12397603,12135674,11820787,11779709,11593413,11577104,11514617,11493697,11278335,11158326,11146654,11113628,11071869,10822386,10801330,10799562,10787408,10753828,10739664,10712510,10639513,10187783,10093970,9697683,9621077,9581808,9425168,9360983,9188452,8995252,8940134,8887669,8700507,8413311,10487518,8810278,15492270,14657239,12714323,9920935,9748319,12819203,12446789,15778465,7780740,8999909,9366405,8668148,15728191,9148935 1579979,734988 9564 NM_014567,AC009078,CH471114,AB040024,AF218451,AJ242987,AK026121,AK027608,AK074958,AK124526,AK124815,AK124844,AK125719,AY545071,BC014402,BC062556,CR622696 NP_055382,EAW95651,EAW95652,EAW95653,EAW95654,EAW95655,EAW95656,BAA92711,AAF27527,CAB75875,BAB55230,BAC11315,AAS48631,AAH14402,AAH62556,P56945,Q6P5Z4,Q6QEF7,Q8NC57,Q96CD4 Hs.479747 GDB:9957355 CAS|CAS1|CASS1|CRKAS|P130Cas v-crk-associated tyrosine kinase substrate protein-coding 1349826 BCAR2 breast cancer anti-estrogen resistance 2 9259413 9565 GDB:9957357 1323276 BCAR3 breast cancer anti-estrogen resistance 3 Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. 1580863 17353931,9582273,17616674,17427198,17270363,17081983,16964243,16710414,15671247,15642172,15489334,14702039,12975309,12517963,12477932,10187783,9436634,8880875 8412 NM_003567,AL109613,AL359820,CH471097,AF124250,AK027785,AK055442,AL833121,AY358996,BC028477,BC039895,CR601884,U92715 NP_003558,CAI18950,CAI18951,EAW73065,EAW73066,EAW73067,EAW73068,AAD28245,AAQ89355,AAH39895,AAC39777,O75815,Q5TEW3 Hs.36958 GDB:9958908 KIAA0554|NSP2|SH2D3B protein-coding 1351231 BCAS1 breast carcinoma amplified sequence 1 Breast carcinoma amplified sequence 1 (BCAS1) was isolated from a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, BCAS1 was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, the BCAS1 gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, BCAS1 is a candidate oncogene. It is predicted to encode a protein of 584 amino acids with no significant homology to other proteins. 17353931,15583422,15489334,14567997,12477932,11780052,11148209,10857754,9671742,9373149,8758909,8125298 8537 NM_003657,AC004501,AC005220,AL354801,CH471077,AF041260,AK225656,BC024044,BC126346,BC126348,CR749643 NP_003648,EAW75574,EAW75575,EAW75576,AAC39896,AAH24044,AAI26347,AAI26349,CAH18437,A0AVG7,O75363,Q05CL3 Hs.400556 GDB:9865684 AIBC1|NABC1 protein-coding 1315129 BCAS2 breast carcinoma amplified sequence 2 1580863 9731529,17353931,12169396,16710414,15694360,15489334,12477932,12429849,12406557,10403562,9373149,8125298 10286 NM_005872,AL390241,CH471122,CQ831058,AB020623,AF081788,AK222637,BC005285,BC012623,BC022880,BC039238,BF184377,BT019390,CR542037,CR624669 NP_005863,EAW56602,EAW56603,EAW56604,CAH05197,BAA34863,AAC64059,BAD96357,AAH05285,AAH12623,AAH22880,AAV38197,CAG46834,O75934,Q53HE3,ABM83455,ABW03501 Hs.22960 GDB:9955865 DAM1 protein-coding 1319844 BCAS3 breast carcinoma amplified sequence 3 1580863 16344560,17505058,16855396,16617102,15489334,14702039,12477932,12378525,9373149,8125298 54828 AK025510,AK225757,AL831895,BC001250,BC013841,BC017390,BC029983,BC033220,BC036280,BC117275,BX648103,CA444316,AK023054,CR610433,DA188234,DA789232,AJ511332,AJ518105,AJ518836,AK000135,AK022526,NM_001099432,NM_017679,AC005746,AC005856,AC005884,AC015876,AC079005,AC110602,CH471179,AF260268,AF361219 BAB14380,BAB15156,CAD38568,AAH01250,AAH17390,AAI17276,BAB14078,Q05D99,Q17RM0,Q6KF21,Q70WD9,Q9H6U6,AAL99632,CAD54076,CAD57723,CAD57724,BAA90966,NP_001092902,NP_060149,EAW51410,EAW51411,EAW51412,EAW51413,EAW51414,EAW51415,EAW51416,AAF70324 Hs.655028,Hs.699319 GDB:11505674 DKFZp686O1527|FLJ20128|GAOB1|MAAB|MGC4973 protein-coding 1352594 BCAS4 breast carcinoma amplified sequence 4 15489334,15342556,14702039,12477932,12378525,11780052 55653 Q8TDM0 CH471077,AF361220,AJ511266,AK000502,BC038381,BC047337,BC056883,BP212127,NM_017843,NM_198799,NM_001010974,AL031680,AL133228 EAW75613,EAW75614,AAL99633,CAD53579,BAA91209,AAH38381,AAH47337,Q8TDM0,NP_060313,NP_942094,NP_001010974,CAI23006,CAI23007,CAI23008,CAI19061,CAI19062,CAI19063 Hs.651208 GDB:11505676 FLJ20495 protein-coding 1345403 BCAT1 branched chain aminotransferase 1, cytosolic This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. 67954,631308,1580863 6933702,8692959,18074675,17846126,17007058,14702039,12477932,10471790,9657861,9165094,7566098,16189514 67954,631308 586 AC023796,AC026310,AC092867,AL390172,CH471094,AA376058,AF277179,AK024923,AK025615,AK056255,AK128527,BC026006,BC033864,BM458559,BX647122,CR749308,U21551,NM_005504 NP_005495,EAW96497,EAW96498,EAW96499,BAB71129,AAH33864,CAH18163,AAB08528,P54687,Q68DQ7,Q6ZV92,Q8N4L9 Hs.438993 GDB:119033 BCT1|DKFZp686E12175|ECA39|MECA39|PNAS-121|PP18 protein-coding 69002 BCAT2 branched chain aminotransferase 2, mitochondrial 67954,1300291,1582175,1580863,1300048 6933702,3896163,16189514,8125298,9165094,17050531,16141215,15489334,15182179,14702039,12686109,12477932,12269802,12119021,11264579,11170829,9665099,9657861,9478945,9373149,8702755 67954,1300291,1582175 587 AC026803,CH471177,AF268047,AF268048,AK023909,AK093627,AK223522,BC001900,BC004243,BE139200,BU178552,CB049110,CR594438,CR597502,CR599031,CR599073,CR600705,CR605733,CR607392,CR609900,CR613494,CR613942,CR615889,CR616057,CR617166,CR618244,CR618489,CR619213,CR619463,CR620275,NM_001190,CR621349,CR626800,U62739,U68418,CR621640 NP_001181,EAW52403,AAK38368,AAK38369,BAD97242,AAH01900,AAH04243,AAB53087,AAB67672,O15382,Q53EW7,ABM83276,ABM86480 Hs.512670 GDB:119034 BCAM|BCT2 protein-coding 1316516 BCCIP BRCA2 and CDKN1A interacting protein This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. 1580863 17353931,10878006,18299662,17947333,17452982,17135243,17081983,16341674,16247447,16189514,16169070,15713648,15539944,15489334,15231748,15164054,14726710,14702039,12527204,12477932,11836363,11754111,11748848,11313963,8889548,1571364 56647 NM_016567,NM_078469,NM_078468,AL360176,AY064247,CH471066,AA806484,AB040450,AB040451,AK055691,AK092054,AL834458,AY064248,AY064249,AY092061,BC009771,BM741863,BM905542,BM974496,BQ008485,CR590039,CR592263,CR595451,CR616411,CR626197 NP_057651,NP_510869,NP_510868,CAI12091,CAI12092,CAI12093,AAL55436,AAL55438,EAW49218,EAW49219,EAW49220,BAA92927,BAA92928,CAD39118,AAL55439,AAL55440,AAH09771,Q9P287 Hs.370292,Hs.501379 GDB:10796852 TOK-1|TOK1 protein-coding 1601723 BCDIN3D BCDIN3 domain containing 12477932 144233 NM_181708,AC131157,CH471111,AK292194,BC040957,BC053560,CR600896,CR612652 NP_859059,EAW58101,BAF84883,AAH53560,Q7Z5W3 Hs.142736 protein-coding 1343415 BCGF1 B-cell growth factor 1, 12kDa 1580863 7698329 588 P20931 GDB:129037 732174 BCHE butyrylcholinesterase Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. 1599458,1331525,734636,1601328,1599454,1580863,1601317,1601321,1601322,1601335 15465921,15449725,15386241,15258737,15111428,15060281,14760718,14735258,14686935,14622273,12901493,12881446,12869558,12811800,12724618,12687586,12668920,12477932,12417112,12387584,12130740,12074828,12044901,12009429,12003252,11856351,11856322,11849755,11848688,11793025,11749053,11738493,11725818,11436125,11125748,10529218,9673783,9543549,8680411,8063698,3542989,3477799,3115973,3067729,3035536,11569538,8622553,14718574,18334913,18322399,18300943,18290843,18165570,18076380,18075469,17996334,17923322,17917325,17852836,17768338,17701416,17700357,17698511,17690023,17660298,17503475,17410321,17350607,17335779,17275003,17192624,17116317,16973370,16962996,16909200,16824336,16801396,16788378,16731619,16504521,16429499,16344560,16335952,16298355,16289064,16288482,16278840,16213467,16105444,16020944,15907830,15834019,15802910,15781196,15731585,15696543,15690550,15519745,15489334,2915989,2339692,2322535,1769658,1769657,8930175 1599458,1331525,734636,1601328,1599454,1601317,1601321,1601322,1601335 590 NM_000055,AC009811,CH471052,M32391,AK292063,BC008396,BC018141,BF056152,CR611139,CR612468,DA426203,M16474,M16541 NP_000046,EAW78591,EAW78592,EAW78593,EAW78594,AAA99296,BAF84752,AAH08396,AAH18141,AAA52015,AAA98113,P06276,Q96HL2,ABM81967,ABM85146 Hs.420483 GDB:120558 CHE1|E1 protein-coding 734102 BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide The BCKDHA gene encodes the E1-alpha subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex (BCKD; EC 1.2.4.4), an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine. This reaction is the second major step in the catabolism of the branched-chain amino acids (Wynn et al., 1998 [PubMed 9582350]). The BCKD complex consists of 3 catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a homo-24-meric dihydrolipoyl transacylase (E2; MIM 248610), and a homodimeric dihydrolipoamide dehydrogenase (E3; MIM 238331). E1 is a thiamine pyrophosphate (TPP)-dependent enzyme. The reaction is irreversible and constitutes the first committed step in BCAA oxidation. The BCKDHB gene (MIM 248611) encodes the beta subunit of E1. The complex also contains 2 regulatory enzymes, a kinase and a phosphorylase.[supplied by OMIM] 1599467,734637,737779,1580863 3224821,7883996,11839747,17922217,17353931,17081983,15489334,15322287,12902323,12812918,12477932,10745006,9582350,8889548,8161368,8037208,7918575,3379058,2914958,2805821,2703538,2241958,2060625,1943689,1889817,1885764,1867199,1861457,1682165,1420356,1356170 1599467,734637,737779 593 CR592674,CR592963,CR595459,CR598478,CR601175,CR604642,CR605564,CR610394,CR612929,CR618519,CR620134,CR620302,CR625203,CR625376,CR626152,CR626469,J04474,M22221,Z14093,NM_000709,AC011462,CH471126,S38309,S38327,S62652,AB209828,AL833143,BC007878,BC008933,BC023983,BE223026,BG742673,BI910860,BM702667,BQ018849,CR591555,CR592078 AAB59549,AAA35590,CAA78475,P12694,Q59EI3,Q658P7,Q6ZSA3,Q9UMB3,NP_000700,EAW57039,EAW57040,AAB19267,AAB19268,AAB20222,BAD93065,CAH56215,AAH07878,AAH08933,AAH23983 Hs.433307 GDB:119723 BCKDE1A|FLJ45695|MSU|MSUD1 protein-coding 1351460 BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B. Alternative splicing at this locus results in transcript variants with different 3' noncoding regions, but encoding the same isoform. 1599466,1599467,1580863 2365818,11839747,12902323,2022752,17922217,17524396,17329260,16472748,15489334,15166214,12477932,11509994,8651316,8161368,7918575,2335211,1889817,1860867,1377677 1599466,1599467 594 NM_183050,NM_000056,AL049696,AL391595,CH471051,D90391,U51015,AK289977,BC034481,BC040139,BM553932,BT020063,CR590082,CR604591,CR623511,DB548202,DC372349,M55575,U50708,U51016,X52446 NP_898871,NP_000047,CAC36881,CAI15049,CAI15050,EAW48696,EAW48697,EAW48698,BAA14389,AAB09779,BAF82666,AAH34481,AAH40139,AAV38866,AAA51812,AAB16763,AAB09780,CAA36685,P21953,Q5T2J3,Q6LCK9,Q9BQL0 Hs.654441 GDB:118759 E1B protein-coding 69214 BCKDK branched chain ketoacid dehydrogenase kinase 1580863 11839747,17353931,15489334,12477932,12023963,8889548,1889817,1377677,16189514,15102850,15576032 10295 NM_005881,NM_001122957,AC135050,CH471192,AF026548,AK130145,BC007363,BC009872,BM679327,BX427330,CR542093,CR590567,CR593551,CR596415,CR598553,CR600084,CR603431,CR607075,CR608547,CR610444,CR610635,CR611022,CR612524,CR613328,CR619065,CR619582,CR619862,CR619975,CR622376,CR623244,CR626330 NP_005872,NP_001116429,EAW52160,EAW52161,EAW52162,EAW52163,EAW52164,AAB82714,AAH07363,AAH09872,CAG46890,O14874,Q6FGL4,Q96G95,ABM84613,ABM87863 Hs.513520 protein-coding 1347575 BCL10 B-cell CLL/lymphoma 10 This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. 1580863 11163238,12761501,17095757,12154360,11021819,11278692,15122200,17468049,16127295,18346354,18287044,18231929,17893875,17540779,17502353,17371994,17213322,17199743,17179215,17101977,17052756,16785131,16775419,16341151,16229939,16186825,16123224,15637807,15489334,15213237,14674990,14638696,16280327,15125833,11053425,15207693,15082780,16395405,10400625,14695475,16831874,16647297,15878976,14523480,12477932,12017308,11960389,11836626,11830492,11472070,11466612,11387339,11356195,11262391,11259443,11113112,11090634,10753917,10380921,10364242,10319863,10187815,10187771,10187770,9989495,8813110,17353931 8915 AF097732,AL590113,CH471097,AF057700,AF082283,AF100338,AF105066,AF127386,AF134395,AJ006288,NM_003921,AK291346,BC053617,BX647306,CA420027,CA443148,EF189176 NP_003912,AAD24918,CAH71557,EAW73208,AAD15800,AAC99767,AAD16428,AAF06894,AAD32597,AAD39147,CAA06955,BAF84035,AAH53617,ABN09569,O95999,Q5VUF1 Hs.193516 GDB:9957871 CARMEN|CIPER|CLAP|c-E10|mE10 protein-coding 1320527 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. 1580863 18245381,17767159,16871282,16704730,15639232,15489334,14702039,12477932,11986957,11830502,11719382,11347906,11161790,10757802,10744719,17672918,9847074 53335 NM_018014,NM_138559,NM_022893,AC007381,AC009970,CH471053,AB058712,AF080216,AJ404611,AJ404612,AJ404613,AK001035,AK055251,AK092316,AY228763,AY692278,BC021098,BG393787 NP_060484,NP_612569,NP_075044,AAX93205,AAY14784,EAX00035,EAX00036,EAX00037,EAX00038,EAX00039,EAX00040,EAX00041,BAB47438,AAG49025,CAC17723,CAC17724,CAC17725,BAA91476,AAO88272,AAU04557,AAH21098,Q53TE8,Q53TS1,Q66LN6,Q9H165,ABZ92151,ABZ92337 Hs.370549 GDB:10796787 BCL11A-L|BCL11A-S|BCL11A-XL|CTIP1|EVI9|FLJ10173|FLJ34997|HBFQTL5|KIAA1809 protein-coding 1322422 BCL11B B-cell CLL/lymphoma 11B (zinc finger protein) This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. 1580863 17369851,17308084,17245431,16950772,16091750,15668700,15325104,15104287,12930829,12692243,12565905,12196208,11719382,10744719 64919 NM_022898,NM_138576,AL109767,AL162151,AL359681,CH471061,AB043584,AF086271,AJ404614 NP_075049,NP_612808,EAW81662,EAW81663,BAB32731,CAC17726,Q9C0K0,AAI56140 Hs.510396 GDB:11508322 CTIP-2|CTIP2|RIT1|hRIT1-alpha protein-coding 733100 BCL2 B-cell CLL/lymphoma 2 This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. 734639,1599473,1599477,1599484,1599491,1300048,1580863,1579984,1579980,1579966,2293020,2293059,2293016,2293015,2293022,2293026,2290557,2293017,2293013,2293014,2289659,2293072,2293078,2292908,2292909,2293019,2293073,2292910,2291908,2293018,2293027,2293021,2293065,1643479 9111042,10620603,1373874,15231831,9027314,10506221,11684014,8949945,11530860,1908951,16167175,9843949,9184696,11264898,12421819,15799693,16307838,10198631,11463392,12624108,1453000,1502141,18410632,18386458,18334006,18313386,18240345,18203018,18199533,18182854,18174230,18162459,18160396,18156504,18091321,18073527,18069888,18059532,18055344,18046449,18046447,18041310,18037229,18026954,18023359,18021997,18006836,17989874,17981569,17978676,17960583,17959858,17942410,17916073,17913397,17912028,17909078,17909067,17908970,17893875,17893147,17882791,17880809,17852408,17848408,17848143,17825790,17785366,17713095,17701916,17693666,17675494,17670745,17666167,17652637,17632732,17616686,17575222,17561354,17557568,17536310,17534194,17516614,17516030,17507655,17473827,17464868,17439414,17438366,17434928,17426248,17418785,17404013,17384650,17379544,17372162,17360176,17356300,17325632,17310847,17301078,17295204,17290286,17272502,17259174,17252199,17241114,17207023,17203183,17200714,17191123,17188136,17145812,17118768,17785460,15584904,15577328,15572421,15561778,15547950,15545228,15544840,15541642,15528355,15498929,15492114,15489891,15489334,15484294,15478112,15467450,15467428,15375594,15367432,15351796,15345651,15340216,15339676,15329319,15314639,15314290,15303767,15302859,15280201,15274378,15263017,15261486,15245329,15243561,15235941,15225643,15203866,15196944,15156398,15149158,15149157,15124764,15123638,15115329,15061204,15057274,15051039,15034060,15033827,15033825,15033793,15026553,15024706,14999286,14980220,14971737,14966123,14964781,14767525,14764541,14754534,12165497,12162425,12161031,12151395,12140755,12133517,12133494,12118096,12112824,12101183,12096338,12095993,12095980,12086875,12086670,12082633,12070027,12054916,12054739,12046064,12039864,12036888,12036886,12036852,12032841,12032828,12031912,12025227,12019168,12011972,12000759,11999565,11994280,11988841,11986946,11983915,11971816,11964319,11959101,11956602,11949843,11949842,11948397,11940482,11929874,11914580,11908736,11877670,11877669,11877309,11877266,11871856,11867266,11864421,11861644,11856759,11855781,11839683,11815602,11804688,11804283,11790116,11787859,11776759,11759062,11759059,14737118,14724650,14714449,14699151,14698203,14689061,14679209,14660675,14647426,14647416,14631373,14628086,14627346,14612291,14572466,14555646,14554083,14529662,14519627,13130506,12970736,12960340,12960134,12939460,12938158,12937123,12901880,12890867,12890751,12879322,12853473,12835724,12821128,12819863,12759537,12756585,12754350,12751031,12749011,12729794,12722479,12721767,12721288,12720100,12702730,12698366,12694817,12686415,12684626,12670866,12667443,12637332,12629413,12617962,12613529,12583439,12581249,12579337,12575534,12540563,12533044,12532420,12530303,12515824,12513829,12510191,12510149,12499093,12490308,12481899,12480939,12477932,12477729,12477721,12452037,12440815,12439925,12431997,12420213,12404120,12400004,12393707,12270344,12234263,12217802,12215338,12214154,12209955,12209154,12207028,12197771,12197229,12189556,12186923,12174951,12172977,12171774,12170763,12167335,17090549,17082179,17074584,17050165,17015762,16998187,16988783,16984978,16982461,16960146,16950491,16949642,16874461,16855163,16850164,16841088,16840204,16839413,16820876,16799010,16777355,16761743,16735440,16733517,16717086,16714000,16707568,16690525,16675913,16648655,16642033,16638864,16638854,16636671,16575548,16568081,16566921,16554306,16550596,16545683,16541314,16538384,16533807,16533178,16520895,16481323,16479062,16472763,16469847,16443602,16438077,16358373,16308474,16273250,16246184,16243795,16228292,16227396,16215670,16204228,16199534,16195370,16194898,16186795,16186627,16181427,16173075,16166262,16148027,16139338,16133992,16132718,16010987,16007339,15981087,15965276,15929186,15911345,15907209,15901672,15889622,15880952,15876860,15849194,15840562,15837573,15832769,15830715,15826766,15817479,15811121,15803126,15800682,15763593,15757977,15754411,15735709,15733859,15720419,15720412,15716988,15657350,15657349,15638363,15634885,15633216,15619620,15605273,15593417,17091766,11642719,11546872,11527400,11513873,11463391,11437653,11406564,11390485,11368354,11326318,11325850,11323417,11278245,11262395,11181702,11175251,11158204,11126360,11054413,10871848,10848600,10669763,10625696,10622714,10620799,10567572,10521466,10490827,10467396,10354271,10329560,10217402,10075695,9973195,9852076,9765397,9738012,9727491,9660918,9525867,9463381,9449720,9430630,9395403,9389483,9334338,9305631,9130713,9119086,9109491,9031086,8929532,8910675,8760290,8668206,8551385,8402618,8358790,8232588,8183370,8090743,7954800,7834748,7753817,7593193,7579350,3924412,3523487,3285301,2875799,2834197,2250705,1508712,1339299,9226228,17158886,10072505,11728179,9226175,15179054,8790371,9561195,15093750,16235026,15832179,15353294,11123279,16120388,12815463,15694340,12137781,15231068,15233914,10807576,15210690,15613488,11752215,15520201,11060313,11483855,11495898,11583631,9788433,10716992,10330179,15574335 734639,1599473,1599477,1599484,1599491,1579984,1579966,2293020,2293059,2293016,2293015,2293022,2293026,2290557,2293017,2293013,2293014,2289659,2293072,2293078,2292908,2292909,2293019,2293073,2292910,2291908,2293018,2293027,2293021,2293065,1643479 596 NM_000633,NM_000657,AC021803,AC022726,AY220759,CH471096,S72602,AF401211,AI401297,BC027258,EU287875,M13994,M13995,M14745,X06487 NP_000624,NP_000648,AAO26045,EAW63136,EAW63137,EAW63138,EAW63139,AAD14111,AAL02169,AAH27258,ABX60202,AAA51813,AAA51814,AAA35591,CAA29778,P10415,Q96PA0,ABM82396,ABM85580 Hs.150749 GDB:119031 Bcl-2 b-cell leukemia/lymphoma 2 protein-coding 733985 BCL2A1 BCL2-related protein A1 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 734640,1580863 10454539,10430908,10381646,10049353,9670936,9356461,9321477,9050999,8952545,8910286,8589678,8345191,7478596,16189514,10545479,16697956,8605321,18093280,17942758,17726463,17724464,17666431,17121585,16873269,16572199,16551634,16164629,15696550,15694340,15617521,15592513,15501771,15499630,15489334,14981542,14966372,14747545,12771180,12692420,12665576,12477932,11929871,11696595,11483855,11329013,10849436,10753914 734640 597 NM_004049,NM_001114735,AC015871,CH471136,AL110097,AY234180,BC016281,BG198875,BG204033,BG216703,BT007103,CD640106,CR541937,CR541962,U27467,U29680,Y09397 NP_004040,NP_001108207,EAW99129,AAO89009,AAH16281,AAP35767,CAG46735,CAG46760,AAC50288,AAC50438,CAA70566,Q16548,Q6FGZ4,Q6FH19,Q86W13,ABM82035,ABM85216 Hs.227817 GDB:568488 ACC-1|ACC-2|BCL2L5|BFL1|GRS|HBPA1 protein-coding 735516 BCL2L1 BCL2-like 1 The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Two alternatively spliced transcript variants, which encode distinct isoforms, have been reported. The longer isoform acts as an apoptotic inhibitor and the shorter form acts as an apoptotic activator. 1300048,1580863,1579980,1579966,1643478,1643480,1643492,1643477,1643481,1643482,1643483,1643491,1643493,1643525,2292685,1643474,1643476,1643479,1643494,2292910 15131699,12011449,16608847,8358789,9843949,9727492,10195903,10198631,11463392,12667443,18216295,18196538,18182854,18171672,18069888,17942397,17927446,17923691,17923112,17893147,17880809,17873279,17699158,17673921,17659302,17657164,17652760,17534896,17525735,17519046,17492131,17439414,17428862,17418785,17404017,17384650,17369848,10446169,10365962,10330179,10217402,10075695,10049775,9973195,9765397,9742125,9675101,9660918,9539746,9525867,9488720,9435230,9430630,9393856,9388232,9334338,9326610,9305851,9192670,9153240,9130713,9111042,9020082,8692274,8596636,7834748,11437653,11423909,11342619,11283018,11279541,11278245,11206074,11175750,11126360,11060313,11054413,11044452,10949025,10891504,10807576,10802717,10737788,10713718,10679027,10625696,10620799,10467399,10467396,14752512,14739602,14735465,14668940,14960327,14764594,14656879,14656874,14631373,14625274,14573608,14520471,14502257,12969962,12963020,12937123,12855666,12853473,12815463,12810626,12783855,12738789,12721288,12637494,12592339,12579342,12553012,12515824,12510191,12477932,12439925,12387875,12381725,12372300,12244097,12214154,12209955,12204872,12198137,12186923,12161031,12115603,12108390,12079401,12070027,12046686,12025227,12000759,11994280,11965035,11964315,11941452,11911810,11883953,11859372,11815602,11801602,11788897,11780052,11756417,11742726,11733517,11714801,11696595,11583631,11574549,11494146,11483855,11463391,17311927,17301078,17272823,17237249,17227835,17209561,17110373,16983335,16959370,16928273,16850161,16835272,16815550,16810067,16794010,16790528,16773221,16723699,16684963,16650855,16632475,16603546,16572323,16572289,16492678,16403219,16368107,16253528,16204228,16192647,16151013,16148096,16085058,16085054,16081848,16077903,16052512,16048439,15961228,15901672,15837790,15827323,15782132,15770735,15767554,15733859,15725478,15722788,15694358,15694340,15657350,15657349,15653751,15638369,15638362,15625014,15574335,15489334,15477204,15459197,15459189,15385505,15375594,15323553,15292226,15179366,15156398,15124764,15079071,15034060,15030396,7644501,7540278,11739707,11123279,16189514,15637055,12767928,12137781,9824152,12901880,14980220,14596824,15705582,15870695,15353804,14963330,9372935,15721256 1579966,1643478,1643480,1643492,1643477,1643481,1643482,1643483,1643491,1643493,1643525,2292685,1643474,1643476,1643479,1643494,2292910 598 BT007208,BX647525,CR936637,Z23115,Z23116,NM_138578,NM_001191,AL117381,AL160175,CH471077,U72398,AK290968,AY263335,AY263336,BC019307 AAP35872,CAI56777,CAA80661,CAA80662,Q07817,Q5CZ89,Q5QP56,Q5QP59,Q5TE63,Q5TE64,Q9H1R6,ABM84387,ABM87310,NP_612815,NP_001182,CAI23025,CAI23026,CAI23027,CAC10003,CAI12811,CAI12812,CAI12813,CAI12814,CAI12815,EAW76424,EAW76425,EAW76426,EAW76427,EAW76428,EAW76429,AAB17354,BAF83657,AAP22027,AAP22028,AAH19307 Hs.516966 GDB:228079 BCL-XL/S|BCL2L|BCLX|Bcl-X|DKFZp781P2092|bcl-xL|bcl-xS protein-coding 1353095 BCL2L10 BCL2-like 10 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. 1580863 9829980,9878060,17532299,12720100,12477932,11689480,11593390,11557035,10486928,9488720,11278245 10017 NM_020396,AC023906,AJ458330,CH471082,AF285092,AF326964,BC093826,BC093828,BC104442,BC104443 NP_065129,CAD30221,EAW77435,AAG00503,AAK48715,AAH93826,AAH93828,AAI04443,AAI04444,Q3SX80,Q52LQ9,Q9HD36 Hs.283672 GDB:9954887 BCL-B|Boo|Diva|MGC129810|MGC129811 protein-coding 734299 BCL2L11 BCL2-like 11 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family, including BCL2, BCL2L1/BCL-X(L), and MCL1, and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. 704412,734641,1580863,704413 10198631,15694340,16282323,16697956,17692808,14764673,10381623,12591950,9430630,18195012,18089817,18064628,18063582,18006817,17927446,17716672,17698840,17686764,17653091,17637819,17538248,17531220,17525735,17499214,17486061,17289999,17276340,17251431,17218274,17203211,17188240,17158029,17151701,17105963,17074758,17067554,17062728,17051334,16951744,16888645,16810067,16478725,16476732,16373335,16260615,16183168,16148027,16091744,16051596,16022280,15899862,15843898,15824087,15767553,15731089,15731037,15728578,15711598,15688014,15653751,15509554,15489334,15486195,15459900,15378010,15147734,15146197,15030401,16773715,15014070,14996839,14970329,14732682,14681225,14676826,14596824,14555991,14527951,12844146,12818176,12486001,12477932,12388545,12198137,12118373,12095614,12019181,11997495,11859372,11734221,11583631,11435715,11301022,11210187,11050388,10837489,10576740,9731710,9463381,8929531,8918887,14561217,15193260,15721256 704412,734641,704413 10018 AY352518,AY423441,AY423442,AY423443,AY428962,BC033694,CN411912,DQ849200,DQ849201,DQ849202,NM_138621,NM_006538,NM_207002,AC096670,CH471237,AA854054,AB071195,AB071196,AB071197,AB071198,AB071199,AB071200,AF032457,AF032458,AF086141,AF455755,AK027160,AK290377,AK291269,AY305714,AY305715,AY305716 AAT34900,AAQ62569,AAQ99148,AAQ99149,AAQ99150,AAR06908,AAH33694,ABI13589,ABI13590,ABI13591,O43521,Q0MSE7,Q0MSE8,Q0MSE9,Q53R28,Q6JTU4,Q6JTU6,Q6T851,Q6TE14,Q6TE15,Q6TE16,Q6V402,Q8WXB2,Q8WYL6,Q8WYL7,Q8WYL8,Q8WYL9,Q8WYM0,Q8WYM1,NP_619527,NP_006529,NP_996885,AAY14797,EAW50364,EAW50366,EAW50367,EAW50370,EAW50371,EAW50372,BAB78589,BAB78590,BAB78591,BAB78592,BAB78593,BAB78594,AAC39593,AAC39594,AAL57868,BAF83066,BAF83958,AAQ82546,AAQ82547 Hs.469658 GDB:9954888 BAM|BIM|BIM-alpha6|BIM-beta6|BIM-beta7|BOD|BimEL|BimL protein-coding 1606211 BCL2L12 BCL2-like 12 (proline rich) The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a Bcl-2 homology domain 2 (BH2). The function of this gene has not yet been determined. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 17081983,16344560,15493871,15489334,14759258,12783122,12477932,11401436,11283018,16189514 83596 NM_138639,NM_001040668,AC011495,AF289220,CH471177,BC007724,BC104004,BC104005,BC104006 NP_619580,NP_001035758,AAG29495,AAG29496,EAW52514,EAW52515,EAW52516,EAW52517,AAH07724,AAI04005,AAI04006,AAI04007,Q3SY13,Q9HB09 Hs.289052 GDB:11508324 MGC120313|MGC120314|MGC120315 protein-coding 1315911 BCL2L13 BCL2-like 13 (apoptosis facilitator) 1580863 11262395,11381032,10591208,17360363,17081983,16189514,15489334,15461802,14702039,12527362,12477932 23786 NM_015367,AC006285,CH471193,AF146568,AF183411,AF246665,AF325209,AF539453,AK027443,AK056248,AK075044,AK291449,AL133029,AL831982,BC003032,BC007658,BC016037,BX354578,CR456521,CR592003,CR602426,CR602532,CR608603 EAW57766,NP_056182,EAW57767,EAW57768,AAF03602,AAG09680,AAK15150,AAK27358,AAN10130,BAF84138,CAB61361,CAD89976,AAH07658,AAH16037,CAG30407,Q86T62,Q8IZP5,Q9BXK5,CAK54552,CAK54851,ABM84173,ABM87575 Hs.708077 GDB:11510533 BCL-RAMBO|MIL1 protein-coding 1603380 BCL2L14 BCL2-like 14 (apoptosis facilitator) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Four alternatively spliced transcript variants, which encode three distinct isoforms, have been reported for this gene. 11054413,17557568,17280616,16484005,15489334,15284860,12477932,12440815,12136098,11896457,9373149,8125298,16189514 79370 NM_138723,NM_030766,NM_138722,NM_138724,AC007537,AJ329005,CH471094,AF281254,AF281255,AK000127,AK026440,AK223415,AK292995,AY040274,BC025778 NP_620049,NP_110393,NP_620048,NP_620050,EAW96247,EAW96248,EAW96249,EAW96250,EAW96251,AAG59793,AAG59794,BAD97135,BAF85684,AAK72109,AAH25778,Q53F74,Q9BZR8 Hs.210343 BCLG protein-coding 1603456 BCL2L15 BCL2-like 15 16710414,15961081,15489334,12477932 440603 NM_001010922,NM_001029946,NM_001029944,NM_001029945,AL137856,AI821052,AK026241,AY265861,AY265862,AY265863,AY265864,BC127719,BC127720,BX116361,CR749373 NP_001010922,NP_001025117,NP_001025115,NP_001025116,CAI19070,AAP93855,AAP93856,AAP93857,AAP93858,AAI27720,AAI27721,CAH18226,Q5TBC7,Q68DJ4 Hs.123106 Bfk|C1orf178|FLJ22588 protein-coding 1352362 BCL2L2 BCL2-like 2 This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. 1580863 15694340,16697956,9500547,8761287,17459056,16475813,16344560,15489334,15147516,12952938,12660157,12651847,12477932,12115603,11546872,11483855,11423909,11152643,9731710,9430630,9039502 599 NM_004050,AL049829,CH471078,AA524030,AA741032,AK289519,BC021198,BC104789,BC113522,BQ001111,BT019549,CR599417,CR611426,D87461,DA196433,U59747 NP_004041,EAW66169,BAF82208,AAH21198,AAI04790,AAI13523,AAV38356,BAA19666,AAB09055,Q92843 Hs.410026 GDB:6380588 BCL-W|BCLW|KIAA0271 protein-coding 1343125 BCL2L7P1 BCL2-like 7 pseudogene 1 1580863 7715731,11780052 600 NG_000850,BX640505,U16812 AAA74467,Q13014,Q5HCI0 GDB:7218405 BAK2|Bak-2|DKFZp686D0345 pseudo 1352173 BCL2L7P2 BCL2-like 7 pseudogene 2 7715731 601 NG_005599,AP004371,U16813 GDB:7218406 BAK3|BAK3P pseudo 1314971 BCL3 B-cell CLL/lymphoma 3 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. 1580863 16306601,8196632,11387332,16108830,16384933,16280327,9407099,18025803,17881446,17644518,17495977,17272867,16940298,16732314,16311697,16123212,16099425,15829968,15634875,15489334,15469820,15105810,12808109,12730195,12477932,12456498,11707390,11485202,10607713,10497212,10362352,9812988,9576921,9218802,8497270,8453667,8428580,8330739,7896265,7691160,2180580,2124350,1923524,1501714,1406939,14678988 602 NM_005178,AC092066,CH471126,M31731,U05681,U05822,Z15098,BC064993,BU501187,M31732 NP_005169,EAW57291,AAA51816,AAC51348,AAH64993,AAA51815,P20749 Hs.31210 GDB:120561 BCL4|D19S37 protein-coding 1344720 BCL5 B-cell CLL/lymphoma 5 2682663,8400234 603 GDB:125178 1319642 BCL6 B-cell CLL/lymphoma 6 (zinc finger protein 51) The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. 1600111,1580863 12097386,10898795,16819511,15577913,9135990,10490843,11821949,7795255,16455075,18212045,18203018,18166802,17889713,17828269,17785208,17689208,17635238,17625604,17594153,17576390,17558410,17542409,17476282,17468402,17403935,17392284,17360630,17296585,17210865,17151114,16943429,16896311,16815642,16773719,16772602,16766263,16733207,16728698,16704730,16489068,16344560,16264183,16249378,16194898,16147992,16125304,16094416,15609396,15509806,15377470,15339680,15277222,15202519,15191563,15024721,14690607,14655758,14654791,14551142,12970571,12881702,12879322,12860928,12835729,12775568,12590135,12562237,12555064,12518453,12515714,12507907,12477975,12477932,12469325,12413700,12402037,12393409,12389616,12217802,12165517,12004059,11994280,11929873,11920179,11914273,11911418,11854457,11175338,10601358,9927193,9765306,9649500,9632807,9624052,9380707,9311010,9171827,9110977,9047392,8758205,8692924,8618933,8506375,8274740,8274736,8235596,8220427,7795234,7639334,1946370,1505991,9627120,15531890,15454082 1600111 604 NM_001706,NM_138931,NG_007149,AC072022,AF240680,CH471052,M88362,Z79581,AI624861,BC142705,BC146796,BC150184,BX649185,DB025893,S67779,U00115,Z21943 NP_001697,NP_620309,EAW78140,EAW78141,AAA61320,AAI42706,AAI50185,CAE46203,AAC50054,CAA79937,P41182,Q15924 Hs.478588 GDB:138176 BCL5|BCL6A|LAZ3|ZBTB27|ZNF51 protein-coding 1349060 BCL6B B-cell CLL/lymphoma 6, member B (zinc finger protein) 1580863 15489334,14702039,12477932,11855826,10965127,9632807,1946370,1505991 255877 AK024695,AK122893,AK292878,AK293102,BC059404,NM_181844,AB076581,AC040977,CH471108,M88371,AB076580 BAF85567,BAF85791,AAH59404,Q15934,Q8N143,ABZ92123,NP_862827,BAC00963,EAW90273,EAW90274,AAA61329,BAC00962 Hs.22575 GDB:10795880 BAZF|ZBTB28|ZNF62 protein-coding 1319851 BCL7A B-cell CLL/lymphoma 7A This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. 15897551,15489334,14743216,12477932,9931421,8605326 605 NM_020993,NM_001024808,AC069503,AC145420,AC156455,CH471054,BC094723,BC113627,BM801030,X89984 NP_066273,NP_001019979,EAW98301,EAW98302,AAH94723,AAI13628,CAA62011,Q14CT7,Q4VC05 Hs.530970 GDB:596183 BCL7 protein-coding 1349003 BCL7B B-cell CLL/lymphoma 7B The protein encoded by this gene contains a region that is highly similar to the N-terminal segment of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. The function of this gene has not yet been determined. 1302558 8605326,15489334,14702039,12477932,9931421,9860302,9806765 1302558 9275 NM_001707,AC005089,CH471200,AJ223979,AK098204,AK123497,AK290091,BC000956,BC001967,BC009548,CR594296,CR594510,CR598138,CR598410,CR604024,CR612621,CR614272,CR614287,CR616908,CR620291,CR622063,X89985 NP_001698,EAW69675,EAW69676,EAW69677,EAW69678,CAA11753,BAC85630,BAF82780,AAH00956,AAH01967,AAH09548,CAA62012,Q9BQE9,ABM92173,ABM84642 Hs.647051 GDB:9955588 protein-coding 1318207 BCL7C B-cell CLL/lymphoma 7C This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. 17081983,15489334,15345747,15302935,12477932,9931421,8605326 9274 NM_004765,AC135048,CH471192,AJ223980,BC019071,BC058863 NP_004756,EAW52193,CAA11754,AAH19071,AAH58863,Q6PJY5,Q8WUZ0 Hs.658547 GDB:9955582 protein-coding 1347119 BCL8 B-cell CLL/lymphoma 8 16344560,16572171,14702039,12160729,9159141 606 XM_001125807,AC068446,AC131280,AL832227,DA278599 XP_001125807,P0C6P0 Hs.657985 GDB:5987258 BCL8A protein-coding 1315830 BCL9 B-cell CLL/lymphoma 9 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. 1580863 11955446,17113272,18347063,17052462,15302935,14612447,12477932,12047235,10602418,9490669,15294866 607 NM_004326,AL359207,AL590667,CH471223,BC116451,CR597072,Y13620 NP_004317,CAI15198,EAW50932,EAW50933,AAI16452,CAA73942,O00512,Q1JQ81,Q5T489 Hs.415209 GDB:6278918 LGS|MGC131591 protein-coding 1319242 BCL9L B-cell CLL/lymphoma 9-like 12477932,12964048,17052462 283149 NM_182557,AP004609,CH471065,AB094091,AK122650,AK122882,AY296059,BC033257,CR606474 NP_872363,EAW67418,BAC76045,BAC85500,BAC85512,AAQ62697,AAH33257,Q86UU0,AAI56198 Hs.414740 BCL9-2|DLNB11 protein-coding 1320189 BCLAF1 BCL2-associated transcription factor 1 This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. 10330179,15009215,17938203,17081983,16964243,16565220,16083285,15681850,15659558,15489334,15324660,15302935,14574404,12477932,8724849,12890497 9774 AF249273,BC016682,BC047687,BC047887,BC056894,BC063846,BC078160,BC132780,BX107174,BX537576,BX648431,BX648878,BX649160,CR620023,D79986,NM_014739,NM_001077441,NM_001077440,AL121713,CH471051 EAW47949,EAW47950,EAW47951,EAW47952,AAF64304,AAH16682,AAH47687,AAH47887,AAH56894,AAH63846,AAH78160,AAI32781,BAA11481,Q6DCA8,Q9NYF8,NP_055554,NP_001070909,NP_001070908,CAB96722 Hs.486542 BTF|KIAA0164|bK211L9.1 protein-coding 1346552 BCMO1 beta-carotene 15,15'-monooxygenase 1 Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. 634553,1580863 17951468,16504037,15489334,14702039,12477932,11401432,10799297,10766819 634553 53630 NM_017429,AC009148,AC131888,CH471114,AF294900,AK001592,BC022269,BC126210,BC126212 NP_059125,EAW95537,EAW95538,AAG15380,BAA91776,AAI26211,AAI26213,A0AV48,Q9HAY6 Hs.212172 BCDO|BCDO1|BCMO|BCO|BCO1|FLJ10730 protein-coding 1319131 BCO2 beta-carotene oxygenase 2 BCDO2 catalyzes the asymmetric oxidative cleavage of beta-carotene in carotene metabolism (Kiefer et al., 2001 [PubMed 11278918]).[supplied by OMIM] 1580863 11278918,15983114,15949678,14702039,12477932,8889548 83875 NM_031938,NM_001037290,AP002884,CH471065,EF444956,AB096252,AF276432,AJ290393,AK027801,AK091783,BC041656,BC047934,BU732625,BX503569,CB162567,CD708042 NP_114144,NP_001032367,EAW67189,EAW67190,EAW67191,EAW67192,EAW67193,EAW67194,ACA05952,AAK69433,CAC27994,BAB55379,BAC03747,AAH41656,Q8IUS0,Q8NAZ7,Q9BYV7 Hs.647227 GDB:11505678 B-DIOX-II|BCDO2|FLJ34464 protein-coding 1606540 BCOR BCL6 co-repressor The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. Several transcript variants encoding different isoforms have been found for this gene. 10898795,18280243,17517692,16943429,16713569,15878880,15770227,15489334,15302935,15004558,14702039,12776190,12522145,12477932,12116202,11777915,10997877,9373149,8125298 54880 NM_017745,NM_020926,NM_001123383,NM_001123384,NM_001123385,AC092198,AL591802,CH471141,AB046795,AF317391,AF317392,AK000292,AK056538,AK074286,AK095360,AK225581,AL698729,AY316592,BC009675,BC063536,BC114220,BC128387,BC128456 NP_060215,NP_065977,NP_001116855,NP_001116856,NP_001116857,EAW59425,EAW59426,EAW59427,EAW59428,EAW59429,EAW59430,BAB13401,AAG41429,AAG41430,BAA91061,BAB85037,AAR08265,AAH09675,AAH63536,AAI14221,AAI28388,AAI28457,Q29RF6,Q6W2J9 Hs.659681 ANOP2|FLJ20285|FLJ38041|KIAA1575|MAA2|MCOPS2|MGC131961|MGC71031 protein-coding 1346589 BCORL1 BCL6 co-repressor-like 1 17697391,17379597,14702039,12477932 63035 NM_021946,AL034405,AL136450,CH471107,Z82208,AI209024,AK021424,AK024395,AK074089,AK124676,AL096777,BC044652,BE246581 NP_068765,EAX11815,EAX11816,EAX11817,EAX11818,CAI42768,CAI42769,CAI42770,BAB13821,BAB84915,BAC85922,CAB46626,AAH44652,Q5H9F3,Q86YA6,Q9HAM3,AAI56743 Hs.496748 B930011H20Rik|FLJ11362 protein-coding 1344218 BCORL2 BCL6 co-repressor-like 2 14702039,12815422,12477932,9847074 286554 NR_002923,AC010137,AK097140,BC063452,BC110520,BC110521,BC122539 BAC04961,Q8N888 Hs.211713 FLJ39821 pseudo 1344777 BCPM benign chronic pemphigus (Hailey-Hailey disease) 7981684 GDB:433809 1317506 BCR breakpoint cluster region A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. 1580863,1600510,1600511 12543778,9872323,8195176,1383690,1903516,1657398,18082628,18070886,17939855,17934518,17822820,17768128,17762503,17710227,17682125,17638918,17638851,17611561,17597804,17579186,17374743,17349636,17347407,17303698,17196995,17145570,17102890,17090304,17081983,17018862,16998483,16966279,16955467,16914906,16912036,16888785,16855631,16849647,16670264,16631477,16598834,16596225,16543472,16502580,16502579,16494625,16490599,16481037,16469868,16449534,16442619,16442529,16418324,16264277,16116902,16079118,15968309,15866548,15857938,15735728,15723338,15716990,15684424,15626746,15542838,15494376,15489334,15481444,15389825,15248918,15145216,15144186,14993251,14966468,14961028,14702039,14656881,14654084,14581377,14534537,12890867,12821944,12808105,12781448,12764153,12734675,12560071,12556557,12522270,12477932,12408765,12370803,12145699,12144533,12115002,12114534,12096337,12023981,11790798,11780146,11746971,11376433,11069024,10887126,10508479,9949177,9874796,9747873,9566916,9467953,9407116,9211920,9209414,9178913,9053848,8955135,8756631,8622703,8502487,8453102,8204871,8112292,7939633,7724587,7665185,7529874,7506601,6584200,6319012,6316147,6281890,3540951,3463934,3422516,3285291,3194194,3118359,3107980,3023859,2989703,2989692,2915904,2825022,2678002,2407300,2263470,2193202,1900918,1868241,1763041,1712671,1706781,1317490,15143164,8641358,9071815,9788431,7606002,8757502,12393433,12592324,10849448,10887132,10706130,10194128,8978305 1600510,1600511 613 NM_004327,NM_021574,CH471095,L02935,M15025,M55395,U07000,X52828,X52829,AB209991,AF487522,AK122842,AK124310,AK128501,AY533677,AY536245,AY536247,AY536248,AY536249,BC031568,BC041705,BC053641,BC063619,BC066122,BC071742,BC083493,BQ422888,CR623143,M64437,X02596,X06418,X14676,Y00661,AF192533 NP_004318,NP_067585,EAW59564,EAW59565,EAW59566,EAW59567,EAW59568,EAW59569,EAW59570,AAA35594,AAB60388,AAB60389,AAB60390,CAA37010,CAA37011,BAE06073,AAF61858,AAL99544,BAC85830,BAC87471,AAS57923,AAS46907,AAS46909,AAS46910,AAS46911,Q12843,Q12844,Q13746,Q6QJE3,AAH83493,AAN76489,CAA26441,CAA29726,CAA32806,CAA68676,P11274,Q6QJE4,Q6QJE5,Q6QJE6,Q6QJE7,Q6QJE8,Q6QME9,Q6ZR46,Q6ZVN1,Q8TDA2 Hs.517461,Hs.634378 GDB:120562 ALL|BCR1|CML|D22S11|D22S662|FLJ16453|PHL protein-coding 1349428 BCRL2 breakpoint cluster region-like 2 3267213 614 GDB:120563 1352977 BCRL3 breakpoint cluster region-like 3 3267213 615 GDB:120564 1344297 BCRL4 breakpoint cluster region-like 4 10591208,9074928 616 NG_000002,D87002 GDB:120565 BCR4 pseudo 1346208 BCRL5 breakpoint cluster region-like 5 10591208 23776 AC007050 GDB:10795292 protein-coding 1353768 BCRL6 breakpoint cluster region-like 6 10591208 23775 AP000359 GDB:10795294 protein-coding 1347169 BCS1L BCS1-like (yeast) This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Two alternatively spliced transcripts encoding the same protein have been described. 1600515,1580863 9878253,17403714,17314340,16344560,15489334,14702039,12477932,12215968,11528392,9792866,9545407,9373149,9110174,8619474,8599931,8125298 1600515 617 NM_004328,NM_001079866,AC009974,AC079810,AF346835,AF516670,CH471063,AF026849,AF038195,AK096210,AK223518,AK289363,BC000416,BC007500,BX571752,CR591888,CR592297,CR600555,CR607471,CR621030,CR623232,CR623638,DA540458 Q9Y276,ABM82803,ABM85990,NP_004319,NP_001073335,AAY24033,AAK29417,AAN05490,EAW70634,EAW70635,EAW70636,EAW70637,EAW70638,EAW70639,EAW70640,AAD08638,AAB97365,BAD97238,BAF82052,AAH00416,AAH07500,CAE11877,Q53EX1,Q53RT4 Hs.471401 GDB:9862757 BCS|BCS1|BJS|FLNMS|GRACILE|Hs.6719|PTD|h-BCS protein-coding 1349102 BCYRN1 brain cytoplasmic RNA 1, Bc1 analog (mouse) This gene, which encodes a neural small non-messenger RNA, is a member of the family of interspersed repetitive DNA, and its product represents an example of a primate tissue-specific RNA polymerase III transcript. The RNA sequence is divided into three domains: a 5' portion homologous to the Alu Lm, a central adenosine-rich region, and the terminal 43-nt nonrepetitive domain. It is believed that this gene was retropositionally generated and recruited into a function regulating dendritic protein biosynthesis. At least two pseudogenes of this gene have been identified. 17553964,16054886,15240511,11399078,9858834,8265590,7684772 618 NR_001568,NG_005471,AC079775,AF020057 GDB:9957704 BC200|BC200a miscrna 1352984 BCYRN1P1 brain cytoplasmic RNA 1, pseudogene 1 8265590,7684772 619 NG_003040,AL161777,U01307 GDB:9957706 BC200b pseudo 1343553 BCYRN1P2 brain cytoplasmic RNA 1, pseudogene 2 8265590,7684772 620 NG_001085,U01308 GDB:9957707 BC200g pseudo 737289 BDH1 3-hydroxybutyrate dehydrogenase, type 1 This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. 1580863 15489334,12477932,11752456,11009606,10933785,8889549,8679568,8615695,7686368,1639787 622 NM_203315,NM_004051,NM_203314,AC128709,AC132008,CH471191,AK126701,AV645953,BC005844,BC011964,BC019317,BC021183,BE782251,BI601294,BQ897235,CR599815,CR611996,CR626354,EF095211,H80183,M93107 NP_976060,NP_004042,NP_976059,EAW53606,EAW53607,EAW53608,EAW53609,BAC86649,AAH05844,AAH11964,AAH19317,ABL01515,AAA58352,Q02338,Q6ZTE2 Hs.274539 GDB:135718 BDH|MGC2723|MGC4347|MGC9788 protein-coding 1604606 BDH2 3-hydroxybutyrate dehydrogenase, type 2 16380372,15489334,14702039,12975309,12477932,10931946 56898 NM_020139,AC097485,CH471057,AF164790,AK023323,AK128463,AK290160,AK291335,AW136198,AY358841,BC001953,BC037277,BC095414,BI544872,CR457309,CR599040,CR601062,CR605040,CR625169 NP_064524,EAX06163,EAX06164,EAX06165,EAX06166,EAX06167,EAX06168,AAF80754,BAB14526,BAF82849,BAF84024,AAQ89200,AAH01953,AAH37277,AAH95414,CAG33590,Q9BUT1 Hs.124696 DHRS6|EFA6R|FLJ13261|PRO20933|UCPA-OR|UNQ6308 protein-coding 1351481 BDH2P1 3-hydroxybutyrate dehydrogenase, type 2 pseudogene 1 389416 NG_005299,AL591803 DHRS6P1|bA758C21.1 dehydrogenase/reductase (sdr family) member 6 pseudogene 1 pseudo 1342712 BDK bradykinin 589 GDB:135323 730874 BDKRB1 bradykinin receptor B1 Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. 704381,704378,1580863,704379,704380,1625733,1625732,628496,1579989 10422787,8063797,9930991,18187413,18039525,18039523,17878384,17328065,17327486,17303584,17128974,17110500,16644486,15883268,15840906,15837330,15805101,15705059,15681300,15643125,15634338,15520046,15492119,15489334,15033977,14499231,12481150,12477932,12450400,12165532,12130679,12063092,12025967,11880373,11710536,11025765,10329474,10188626,8995263,8808279,8660997,8651911 704381,704378,704379,704380,1625733,1625732,628496,1579989 623 AB065896,AL355102,AY275464,CH471061,L42383,U22346,U48231,AF117819,AJ238044,AK291970,BC034705,U12512,W49512,NM_000710 NP_000701,BAC06112,AAP32296,EAW81632,AAC50594,AAB60693,AAD17233,CAB45650,BAF84659,AAH34705,AAA21346,P46663,Q71U72,ABM82202,ABM85390 Hs.525572 GDB:138169 B1BKR|B1R|BKB1R|BKR1|BRADYB1 protein-coding 737386 BDKRB2 bradykinin receptor B2 This gene encodes a receptor for bradykinin. The 9 aa bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation. This receptor associates with G proteins that stimulate a phosphatidylinositol-calcium second messenger system. Alternate start codons result in two isoforms of the protein. 1331525,1580863,704378,704379 8302267,1314587,7835885,10653985,7916737,18258629,18187413,18180402,18096516,18039523,17593394,17569300,17522594,17420253,17363739,17328065,17327486,17303584,17299793,17207964,17110500,17077303,17030791,16950802,16740128,16600946,16489763,16461337,16344560,16294326,16263113,16144969,15894833,15805101,15771553,15664665,15654972,15643126,15643125,15634338,15489334,15301669,15281091,15161928,15117835,15114524,15112434,15033977,14607851,14499231,12851878,12705334,12640257,12522467,12489797,12481150,12477932,12450400,12177051,12130679,12107246,12063092,12039525,12025967,11954665,11908480,11747451,11710536,11699055,11517947,11517230,11446495,11409654,11324803,10993080,10748135,10681501,10510297,10469138,10188626,10085087,8900488,8777990,8652530,8394991,8063797,7779090,7779089,1329734,15664511 1331525,704378,704379 624 NM_000623,AF378542,AL355102,CH471061,L27594,S45489,S56772,X86162,X86172,X86173,AI095360,AY275465,BC074894,BC074895,CR749338,DA096163,DC422332,M88714,X69680,X86164,X86165 NP_000614,AAK56376,EAW81629,AAB23467,AAB25765,AAP32297,AAH74894,AAH74895,CAH18192,AAB02793,CAA49360,CAA60108,CAA60109,P30411,Q68DM8,Q6LAU9 Hs.654542,Hs.694442 GDB:135713 B2R|BK-2|BK2|BKR2|BRB2|DKFZp686O088 protein-coding 1348244 BDM behavior disorder modifier 625 GDB:119035 1354326 BDMR brachydactyly-mental retardation syndrome 7847374 626 GDB:533064 731027 BDNF brain-derived neurotrophic factor The protein encoded by this gene is a member of the nerve growth factor family. It is induced by cortical neurons, and is necessary for survival of striatal neurons in the brain. Expression of this gene is reduced in both Alzheimer's and Huntington disease patients. This gene may play a role in the regulation of stress response and in the biology of mood disorders. Multiple transcript variants encoding distinct isoforms have been described for this gene, but the full-length nature of only some could be determined. 631710,1331525,734643,734644,1580863,1300048 16343697,16314750,16301096,16222333,16186425,16172806,16166223,16152573,16152572,16139165,16109452,16105728,16056149,16054753,16046000,16043130,16039058,16005437,15987945,15970929,15949651,15940299,15940292,15935057,15918078,15913964,15913870,15900221,15899246,15896496,15896483,15866349,15843069,15838855,15837123,15816823,15772739,15770238,18294085,18291105,18286632,18263664,18253057,18242855,18242852,18205169,18203754,18182069,18179845,18179783,18069415,18068900,18062171,18061279,18059328,18056245,18043709,17988784,17987059,17973920,17959306,17942328,17922530,17918236,17911362,17895927,17894414,17893696,17889702,17885603,17884018,17883407,17869486,17853300,17850220,17845420,17804189,17761923,17702963,17680923,17669628,17657167,17656372,17653045,17632285,17629449,17628439,17621170,17611278,17611164,17604122,17590513,17584309,17579366,17522015,17510948,17505499,17493809,17482146,17460549,17435670,17427194,17427191,17427185,17419735,17417060,17413445,17404118,17401528,17392738,17376155,17375136,17373693,17366345,17349978,17293537,17289348,17284422,17267117,17241828,17239400,17229524,17222482,17219016,17217930,17216343,17210134,17197106,17196936,17186223,17167336,17161975,17151862,17130481,17096834,17092970,17044097,17036259,17012654,17010953,17006024,16979146,16962724,16905325,16901635,16899999,16897602,16890384,16890377,16876305,16872631,16869232,16854566,16848784,16847693,16846718,16824691,16823800,16818862,16807663,16797081,16787706,16786155,16741941,16741916,16740142,16713371,16707914,16698101,16680163,16649215,16648236,16648150,16633140,16631352,16627933,16623937,16606648,16604191,16581172,16568151,16565926,16541456,16538178,16533563,16513879,16497333,16472361,16458264,16446742,16446138,16442082,16441896,16406671,16391475,16389585,16388901,16388065,16356643,16344533,2236018,7703225,18478177,18472202,18460776,18454098,18450378,18434641,18428117,18408624,18384075,18379473,18379218,18347599,18325670,14681916,14673216,14642442,14636373,14623369,14582140,14566559,12951204,12921913,12912764,12900521,12890761,12888803,12851636,12842310,12836135,12753507,12742659,12738784,12719654,12694935,12568867,12553913,12531456,12524161,12480128,12477932,12397373,12359171,12358753,12192623,12161822,12140781,12140770,12130635,12008958,11935372,11923430,11840487,11836300,11782995,11408619,11244490,11214319,11166915,15768049,11152678,10760298,10493752,10391209,9990022,9580557,9519408,9387865,9312147,9118804,8869564,8527932,8174548,7961712,2230938,2025430,1889807,1889806,1339267,9878821,16189514,15726264,15719396,15710474,15666411,15665077,15664176,15657604,15657181,15647480,15635706,15630410,15626824,15626819,15596541,15567073,15547445,15544837,15543516,15541709,15537879,15526143,15489334,15459944,15457498,15384083,15375678,15337270,15336520,15279867,15274036,15177062,15120095,15118353,15115760,15108194,15094483,15084795,14997020,14730195,14730194,14715936 631710,1331525,734643,734644 627 EF689013,EF689014,EF689015,EF689016,EF689017,EF689018,EF689019,EF689020,EF689021,M61176,X60201,X91251,NM_170731,NM_170732,NM_170733,NM_001709,NM_170734,NM_170735,AC103796,AC104563,AF411339,AY011481,CH471064,M37762,M61181,X60202,AB038670,AB038671,AB038672,AB038673,AB038674,AF400438,AK289763,AK289853,AY054392,AY054393,AY054394,AY054395,AY054396,AY054397,AY054398,AY054399,AY054400,AY054406,AY442188,AY656701,BC029795,CR616691,DQ250642,EF674517,EF674518,EF674519,EF674520,EF674521,EF689009,EF689010,EF689011,EF689012 ABS32253,ABS32254,ABS32255,ABS32256,ABS32257,ABS32258,ABS32259,ABS32260,ABS32261,AAA69805,CAA42761,CAA62632,P23560,Q304R1,Q598Q1,Q6DN19,Q6T2C9,Q6YNR1,Q6YNR2,Q6YNR3,Q96TC2,ABM81737,ABM84892,Q969N8,NP_733927,NP_733928,NP_733929,NP_001700,NP_733930,NP_733931,AAO15434,AAG47514,EAW68274,EAW68275,EAW68276,EAW68277,EAW68278,EAW68279,AAA51820,AAA96140,BAB55545,BAB55546,BAB55547,BAB55548,BAB55549,AAK92487,BAF82452,BAF82542,AAL23557,AAL23558,AAL23559,AAL23560,AAL23561,AAL23562,AAL23563,AAL23564,AAL23565,AAL23571,AAR14686,AAT74399,AAH29795,ABB51155,ABS29021,ABS29022,ABS29023,ABS29024,ABS29025,ABS32249,ABS32250,ABS32251,ABS32252 Hs.502182 GDB:118846,GDB:125916 MGC34632 protein-coding 1344282 BDNFOS brain-derived neurotrophic factor opposite strand 15666411 497258 NR_002832,AC087750,AC100771,AC104563,AY054391,AY054401,AY054402,AY054403,AY054404,AY054405,AY513486 Hs.675323 BT2A|BT2B|BT2C|BT2D miscrna 1318324 BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. 1580863 16542149,15469824,15342556,15096501,14592981,14527415,12477932,11214970,11161782,11040218,10574462,9171375,9169441,17499043 55814 NM_018429,AC138832,AJ278892,AJ279120,AJ279144,AJ279145,AJ279146,AJ279147,AJ279148,AJ279149,AJ279150,CH471084,AB033067,AB051476,AF176695,AF298151,AF298152,AI537645,AJ238520,AK057871,BC032146,BC146792,BP246483,BP347992,BX641011,CR749229,CR749289 NP_060899,CAC17771,CAC21448,EAW95688,EAW95689,BAA86555,BAB21780,AAG09268,AAG30220,AAG30221,CAC04245,BAB71602,AAH32146,AAI46793,CAE46010,CAH18085,CAH18144 Hs.258272 GDB:10796998 DKFZp686C01233|DKFZp686K0831|HSA238520|KIAA1241|KIAA1689|TAF3B1|TFC5|TFIIIB''|TFIIIB150|TFIIIB90|TFNR protein-coding 2289748 BDP1P B double prime 1 pseudogene 724038 NG_005602,AC124254 pseudo 733440 BECN1 beclin 1, autophagy related 634559,1580863,1643194,1643198,1643329 17589504,9765397,18184403,18005679,17999086,17659302,17643073,17595761,17550384,17446862,17438366,17337444,17272502,17203225,16874027,16857678,16718815,16713569,16522639,16390869,16267277,15922724,15489334,14970205,14966907,12477932,12372286,11564866,11309306,11306555,10604474,10395800,9373149,8125298,7829101,7490091,17786023 634559,1643194,1643198,1643329 8678 NM_003766,AC016889,CH471152,AF077301,AF139131,AK223411,BC010276,BI496049,BX647788,DC296896,L38932 NP_003757,EAW60888,EAW60889,EAW60890,AAC68653,AAD27650,BAD97131,AAH10276,AAB59573,Q14457,Q53F78,ABM82559,ABM85749 Hs.12272 GDB:9956250 ATG6|VPS30|beclin1 beclin 1 (coiled-coil, myosin-like bcl2-interacting protein) protein-coding 731845 BEGAIN brain-enriched guanylate kinase-associated homolog (rat) 16189514,17081983,16964243,16713569,15489334,12477932,12097487,10819331,9756850 57596 NM_020836,AL845552,CH471061,AB040879,AL390162,BC002607 NP_065887,EAW81707,EAW81708,BAA95970,CAB99094,AAH02607,Q9BUH8 Hs.211751 KIAA1446 protein-coding 1323228 BEST1 bestrophin 1 BEST1 belongs to the bestrophin family of anion channels, which includes BEST2 (MIM 607335), BEST3 (MIM 607337), and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM] 1599738,1580863 17003041,9662395,11050159,10737974,18222922,18179881,17698758,17646752,17591911,17468957,17361457,17287362,17110374,17065513,16885924,16769844,16754206,16707793,16612637,15808248,15556645,15489334,15452077,15176385,14982938,13129869,12907679,12477932,12324875,12187431,12107410,12058047,12032738,11913792,11904445,11449320,11271465,11241846,10854112,10798642,10766140,10682987,10453731,10394929,10331951,9700209,9679014,9445487,1395087,1302019,838599 1599738 7439 NM_004183,AF073500,AP003733,CH471076,AB209451,AF057169,AF057170,AF073501,AK289681,AY515704,BC015220,BC041664,CA388926 NP_004174,AAC64926,EAW73982,EAW73983,EAW73984,EAW73985,EAW73986,EAW73987,EAW73988,BAD92688,AAC64343,AAC64344,AAC33766,BAF82370,AAR99654,AAH15220,AAH41664,O76090,Q59FK9 GDB:133795 ARB|BEST|BMD|TU15B|VMD2 vitelliform macular dystrophy (best disease, bestrophin) protein-coding 1313368 BEST2 bestrophin 2 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. 1580863 16912113,14702039,12907679,12032738,11904445,9700209,9373149,8125298 54831 NM_017682,AC018761,CH471106,AF440756,AK000139,AK225232,AY515705 NP_060152,EAW84304,AAM76995,BAA90970,AAR99655,Q8NFU1 Hs.435611 FLJ20132|VMD2L1 protein-coding 1313470 BEST3 bestrophin 3 BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM] 1580863 17442670,15489334,14702039,12907679,12477932,12032738,9700209 144453 NM_032735,NM_152439,AC025263,CH471054,AF440758,AK096459,AY515706,BC006440,BC028087,CR612373,CR614874 NP_116124,NP_689652,EAW97234,AAM76997,BAC04797,AAR99656,AAH06440,Q8N1M1,AAI66663 Hs.280782 MGC13168|MGC40411|VMD2L3 vitelliform macular dystrophy 2-like 3 protein-coding 1344321 BEST4 bestrophin 4 This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. 1580863 16710414,16702355,15489334,12907679,12477932,12032738,9700209 266675 AY515707,BC101823,BM142321,NM_153274,AL592166,CH471059,AF440757 AAR99657,AAI01824,Q8NFU0,NP_695006,CAI13005,EAX07022,AAM76996 Hs.302513 MGC126872|VMD2L2 vitelliform macular dystrophy 2-like 2 protein-coding 732892 BET1 blocked early in transport 1 homolog (S. cerevisiae) This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. 1580863 16189514,8621431,17081983,15489334,12853948,12690205,12477932,11323436,10449330,9847074,9382863,9094723 10282 NM_005868,AC006378,CH236949,CH471091,AF007551,BC000899,BC012595,BG721261,BT009853,BX505568,CR601371,CR605582,CR614774,CR749267 NP_005859,AAD47132,EAL24137,EAW76800,EAW76801,EAW76802,EAW76803,AAB62941,AAH00899,AAH12595,AAP88855,CAH18123,O15155,Q53XK0,Q68DU7,Q96EA0,ABM85004 Hs.489132 GDB:9955860 DKFZp781C0425|HBET1 protein-coding 1602713 BET1L blocked early in transport 1 homolog (S. cerevisiae)-like 15215310,16344560,15489334,15004235,14702039,12477932,12388752,11927603,11323436,11181995,11042152,9242691,9110174,8619474 51272 NM_001098787,AC069287,CH471278,AF151031,AF234160,AK022958,AL833842,AY007148,BC000688,BC008971,BC016945,BC018839,BC032779,BC064025,DA875317,DA880679,NM_016526 Q63HK4,Q6PIK8,Q9H4N3,Q9NYM9,Q9P0S7,NP_057610,NP_001092257,AAF36117,AAF37877,AAG02004,AAH08971,AAH32779 Hs.414418 GDB:11510770 BET1L1|GOLIM3|GS15|HSPC197 protein-coding 1342888 BET3L BET3 like (S. cerevisiae) 14702039 221300 AK002042 Hs.134795 FLJ11180|bA259P20.2 protein-coding 1343861 BEVI baboon M7 virus integration site 628 GDB:119036 1343764 BEX1 brain expressed, X-linked 1 1580863 16818640,15958283,15920485,15772651,15489334,12477932,11989783,12054873 55859 NM_018476,AL008708,CH471190,AF183416,AF220189,AF237783,AK290958,AY833561,BC018615,BC126427,BC126429,BM465948,BX098763,CR613496 NP_060946,EAW54723,AAG09685,AAF67654,AAG09752,BAF83647,AAX40679,AAI26428,AAI26430,Q9HBH7 Hs.334370 GDB:10796161 BEX2|HBEX2|HGR74-h protein-coding 1353223 BEX2 brain expressed X-linked 2 737633,1580863 17638883,17251904,16818640,16314316,16189514,15958283,15772651,15489334,12477932,12054873 737633 84707 NM_032621,AL133348,CH471190,Z70233,AF251053,AY833560,BC015522,BC050651,BI670202,CR606275,CR607680 NP_116010,CAI43071,CAI43072,EAW54715,EAW54716,CAD24039,AAK34943,AAX40678,AAH15522,Q9BXY8 Hs.398989 BEX1|DJ79P11.1 protein-coding 1352390 BEX4 BEX family member 4 737633,1580863 15958283,15772651,14702039,12477932 737633 56271 NM_001080425,NM_001127688,AL035494,CH471190,AK000959,AL544124,AV726729,AY833563,BC015794,BC068069,CR595447,CR598194,CR598850,CR600487,CR617571,CR620378,CR621550,CR624132 NP_001073894,NP_001121160,CAI42990,EAW54719,BAA91443,AAX40681,Q9NWD9,AAI48485,AAI56671 Hs.184736 BEXL1|FLJ10097 protein-coding 1348519 BEX5 BEX family member 5 737633 15958283,15772651,15489334,12477932 737633 340542 NM_001012978,CH471115,Z70719,AY833564,BC042818,BC092450,BC106955 NP_001012996,EAX02903,CAI42011,AAX40682,AAH42818,AAH92450,AAI06956,Q5H9J7 Hs.47209 MGC104434|MGC126446|NGFRAP1L1 protein-coding 1312438 BFAR bifunctional apoptosis regulator 1580863 10716992,15489334,14502241,12477932 51283 NM_016561,AC009167,CH471112,AF173003,AK291114,BC003054,CR603825,CR608187,CR613606,CR620062 NP_057645,EAW85105,EAW85106,EAW85107,EAW85108,EAW85109,AAF59975,BAF83803,AAH03054,Q9NZS9,ABM81574,ABM84754 Hs.435556 GDB:11505682 BAR|RNF47 protein-coding 1350233 BFLS Borjeson-Forssman-Lehmann syndrome 630 GDB:120566 737302 BFSP1 beaded filament structural protein 1, filensin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, filensin (or CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). 1580863 9628810,17225135,12477932,11780052,10909854,9787085,7781747,7720401,7679620,7615661,7504675,1918147,1478967 631 NM_001195,AC010083,AF191047,AL031664,AL132765,CH471133,Y16718,Y16723,AF039655,BC041483,U12622,Y16717 NP_001186,AAG17186,CAB89430,CAI21689,CAH74032,EAX10277,EAX10278,CAA76349,AAB94939,AAH41483,AAA74423,CAA76348,Q12934 Hs.129702 GDB:9862761 CP115|CP94|FILENSIN|LIFL-H beaded filament structural protein 1 protein-coding 1347093 BFSP2 beaded filament structural protein 2, phakinin More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. 1600516,1580863 9628810,17982427,17200662,15570218,15489334,12477932,10753642,10739768,10729115,8889548,8636093,7720401,7504675 1600516 8419 NM_003571,AC022296,AC055753,AF195044,CH471052,BC113518,BC113520,BM667774,BM696370,U12621,U48224 NP_003562,AAG30728,EAW79178,EAW79179,AAI13519,AAI13521,AAC50414,Q13515 Hs.659862 GDB:9955111 CP47|CP49|LIFL-L|MGC142078|MGC142080|PHAKOSIN protein-coding 619567 BGLAP bone gamma-carboxyglutamate (gla) protein (osteocalcin) 1580863 15753298,15562030,16263577,15502821,15108070,15108065,12879219,12843190,12674332,12565780,12477932,12393937,12270142,12145306,12112004,11979972,11918225,11574953,11396736,11199188,10865224,10419538,10393081,9076588,7768973,6967872,3019668,2785029,2394711,2336375,15949438,10486212,12467198,12202187,11856645,18285546,18163903,17889845,17627084,17254772,17252541,17242729,17000892,16735944,16412323,16387359 632 NM_199173,AL135927,CH471121,CS025626,CS185557,DQ007079,X04143,BC113432,BC113434,BU622466,CA428336,X51699,X53698 NP_954642,CAI15541,EAW52986,CAI61690,CAJ42738,AAY16981,CAA27763,AAI13433,AAI13435,CAA35996,CAA37736,P02818,Q5TCK0 Hs.654541 GDB:118760 BGP|PMF1 protein-coding 737524 BGN biglycan The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to two other small proteoglycans, decorin and fibromodulin. The encoded protein and decorin are thought to be the result of a gene duplication. Decorin contains one attached glycosaminoglycan chain, while this protein probably contains two chains. For this reason, this protein is called biglycan. This protein is thought to function in connective tissue metabolism by binding to collagen fibrils and transfering growth factor-beta. It may promote neuronal survival. This gene is a candidate gene for the Happle syndrome. 1580863 16434404,11076863,16381901,16344560,16051607,15775969,15546867,15489336,15489334,15372625,15173106,15031262,14702039,12538652,12477932,12387878,12354766,12153565,12140283,12070165,11979972,11723132,11709279,11598131,11259413,11145944,1860845,11256614,17516017,17269742,17120779,17097211,16989735,16938379,16883602,16807372,10854409,10684260,10383378,9880804,9848887,9731537,9373149,8440685,8178833,8125298,8093671,8093006,7881444,7852349,7793988,7607653,3597437,2647739,2590169,2059554,1968422,1612609,16189514 633 NM_001711,CH471172,M65151,M65153,AK092954,AK093023,AK094059,AK222484,AK223302,AK291955,AU142113,BC002416,BC004244,BT007323,CR595264,CR618469,CR624916,J04599,U11686 NP_001702,EAW72861,EAW72862,EAW72863,EAW72864,EAW72865,AAA52287,BAC04007,BAD96204,BAD97022,BAF84644,AAH02416,AAH04244,AAP35987,AAA36009,AAC50117,P21810,Q0JSF5,Q53FI4,Q53HU6,Q8NAB7,CAL37481,CAL38559,ABM82824,ABM86010 Hs.821 GDB:119727 DSPG1|PG-S1|PGI|SLRR1A protein-coding 68659 BHLHB2 basic helix-loop-helix domain containing, class B, 2 DEC1 encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is responsive to the addition of Bt2cAMP. Differentiated embryo chondrocyte expressed gene 1 is believed to be involved in the control of cell differentiation. 625726,1580863 11278694,9240428,18228528,16487626,16169070,15994878,15719173,15560782,15489334,15223310,12754744,12624110,12477932,12397359,12384505,12354771,12297495,12119049,11688991,11668339,11226878,10449910 625726 8553 AC090955,AF353635,CH471055,EF015895,AB004066,BC068292,BC082238,CR456921,CR610415,CR613882,CR621260,NM_003670,AB043885 AAK49525,EAW63916,EAW63917,ABM64206,BAA21720,AAH82238,CAG33202,O14503,Q6IB83,ABZ92197,NP_003661,BAB18565 Hs.171825 GDB:9955612 DEC1|SHARP-2|STRA13|Stra14 basic helix-loop-helix domain containing, class b2 protein-coding 731061 BHLHB3 basic helix-loop-helix domain containing, class B, 3 625726,1580863 11162494,18228528,17194498,16287852,12657651,12624110,12477932,12397359,12354771,11278948,11058868 625726 79365 NM_030762,AC022509,CH471094,EF015896,AB044088,AJ270695,AY665466,AY665467,BC025968,CR615693 NP_110389,EAW96527,EAW96528,ABM64207,BAB21502,AAV54601,AAV54602,AAH25968,Q5SCI4,Q8TAT1,Q9C0J9 Hs.177841 GDB:11504359 DEC2|SHARP-1|SHARP1 protein-coding 1346145 BHLHB4 basic helix-loop-helix domain containing, class B, 4 Basic helix-loop-helix (bHLH) proteins, such as BHLHB4, are transcriptional regulators.[supplied by OMIM] 14516699,12617822,12136098,11780052,11863370 128408 NM_080606,AJ328944,AL121673,CH471077,BK000274 NP_542173,CAD37449,EAW75311,EAW75312,DAA01054,Q8NDY6 Hs.551230 GDB:11505684 Beta4|bA305P22.3 protein-coding 1313486 BHLHB5 basic helix-loop-helix domain containing, class B, 5 1580863 14702039,14516699,12617822,12477932,12213201,9225980 27319 NM_152414,AC090136,AF504925,CH471068,AA927689,AI968349,AK091333,BC033056,BC045748,BK000273 NP_689627,AAM28881,EAW86876,DAA01053,Q8NFJ8,AAI56672 Hs.388788,Hs.591870 GDB:10795964 Beta3|CAGL85|TNRC20 protein-coding 737550 BHLHB8 basic helix-loop-helix domain containing, class B, 8 16645041,15489334,14516699,12853948,12690205,12617822,12477932,11696558,10575209,9482738,9073453 168620 NM_177455,AC091654,CH236956,BC113394,BC113396,BK000276 NP_803238,EAL23893,AAI13395,AAI13397,DAA01056,Q7RTS1 Hs.674510 MIST1 muscle, intestine and stomach expression 1 protein-coding 1347976 BHLHB9 basic helix-loop-helix domain containing, class B, 9 1303981,1580863 15034937,12477932,11214970,9110174,8619474 1303981 80823 NM_030639,AL035427,CH471190,AB051488,AF035288,AF547055,BC041409 NP_085142,CAI43061,EAW54726,BAB21792,AAQ12077,AAH41409,Q6PI77 Hs.4276 KIAA1701|p60TRP protein-coding 1346951 BHMT betaine-homocysteine methyltransferase This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. 1580863 9281325,8889548,1657504,10075673,8798461,18427977,18262489,18230680,17993766,17705221,17436311,17376725,17119116,17035141,16953798,16816108,16344560,16189514,15489334,15122900,12818402,12749058,12477932,12475213,12220488,12071701,11883905,11516176,11223523,10529246,9681996 635 NM_001713,AC008502,AF118371,AF118372,AF118373,AF118374,AF118375,AF118376,AF118377,AF118378,AY325901,CH471084,BC012616,BM678994,CR620701,DA370221,U50929 NP_001704,AAD22043,AAQ90058,EAW95831,EAW95832,AAH12616,AAC50668,Q6EI07,Q93088 Hs.80756 GDB:5892185 protein-coding 1352435 BHMT2 betaine-homocysteine methyltransferase 2 Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. 1580863 18427977,18230605,15489334,14702039,12818402,12477932,11087663 23743 NM_017614,AC008502,CH471084,AF257473,AK000008,BC020665 NP_060084,EAW95827,EAW95828,EAW95829,EAW95830,AAG41356,BAA90880,AAH20665,Q9H2M3,ABM82296,ABM85476 Hs.114172 GDB:10794802 FLJ20001 protein-coding 1316665 BICC1 bicaudal C homolog 1 (Drosophila) This gene encodes an RNA-binding protein that is active in regulating gene expression during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. 15465627,14702039,11231089,9373149,8125298 80114 NM_001080512,AC012168,AC012472,AC023170,CH471083,AK026129,AK225427,AK225429,AY726586 NP_001073981,EAW54176,BAB15369,Q9H694,AAI56901 Hs.158745 GDB:11510772 protein-coding 1319790 BICD1 bicaudal D homolog 1 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D. It has been implicated in COPI-independent membrane transport from the Golgi apparatus to the endoplasmic reticulum. Two alternative splice variants have been described. Other alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. 9367685,17707369,17139249,17101644,16473624,16344560,16320833,15489334,14702039,12892780,12522145,12477932,12447383,12401177,8530100 636 AC026356,AC048344,AC087245,AC087316,CH471116,AA207154,AA249429,AK095648,AK290188,AU132680,BC010091,U90028,U90030,NM_001714,NM_001003398,AC016954 EAW88532,EAW88533,EAW88534,BAF82877,AAB94805,NP_001705,NP_001003398,AAB94806,Q96G01 Hs.505202 GDB:5912682 BICD protein-coding 1352041 BICD2 bicaudal D homolog 2 (Drosophila) This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. 17081983,16964243,16473624,15592455,15489334,15302935,15164053,15144186,14609947,12477932,12447383,12401177,11864968,11483508,9734811 23299 NM_001003800,NM_015250,AL136981,AL137074,CH471089,AB014599,AY052562,BC004296,BC010428,BC073970 NP_001003800,NP_056065,EAW62829,BAA31674,AAL12246,AAH04296,AAH10428,AAH73970,Q8TD16,Q96FU2 Hs.436939 KIAA0699|bA526D8.1 protein-coding 1346183 BID BH3 interacting domain death agonist This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. 1580863 17762183,17666167,17635912,17549073,17534194,17431792,17308307,17289999,17226776,17200714,16987815,16964285,16908521,16485030,16475813,16380381,16172118,16077201,15809076,15772077,15694340,15637055,15615731,15592455,15574335,15501827,15489334,15461802,15323553,15173176,15123718,15117953,15024076,14769944,14716828,14702039,14583606,14581476,12934063,12871587,12808108,12766488,12754217,12598529,12477932,12419244,12196516,12193163,12097160,12061801,17765974,12000759,11971973,11940658,11929871,8918887,15231831,9727491,16167175,17052454,10629050,11099414,11114298,12804595,9727492,10950869,12624108,18195012,18173728,18166654,18089817,17855051,11832478,11805084,11790791,11741882,11585909,11583631,11583622,11544326,11085743,10364179,10089877,9790773,9721221,9463381,7929347,7774948,12404116,15659383,16189514,15520201,15353804,15721256,15692567 637 BC036364,BM842561,BQ068464,CR407603,CR456389,CR600376,CR611157,CR612150,D89803,BC033634,NM_197967,NM_001196,NM_197966,AC006285,AC016026,AY309922,CH471193,CQ786436,AF042083,AF087891,AF250233,AF370380,AK094795,AY005151,BC009197,BC022072 AAH33634,AAH36364,CAG28531,CAG30275,BAF79673,P55957,Q71RF7,CAK54378,CAK54677,ABZ92041,AAH22072,NP_932071,NP_001187,NP_932070,AAP50259,EAW57770,EAW57771,EAW57772,EAW57773,EAW57774,CAG17894,AAC34365,AAP97190,AAO32633,AAQ15216,AAF89091,AAH09197 Hs.591054 GDB:9837249 FP497|MGC15319|MGC42355 protein-coding 1347683 BIK BCL2-interacting killer (apoptosis-inducing) The protein encoded by this gene is known to interact with cellular and viral survival-promoting proteins, such as BCL2 and the Epstein-Barr virus in order to enhance programed cell death. Because its activity is suppressed in the presence of survival-promoting proteins, this protein is suggested as a likely target for antiapoptotic proteins. This protein shares a critical BH3 domain with other death-promoting proteins, BAX and BAK. 1580863 15694340,16697956,7478623,10381623,17714764,17574210,17047080,17027756,16060964,15824729,15809295,15791210,15767553,15731089,15489334,15461802,14983013,12874789,12853473,12477932,11884414,11782349,11375329,11342619,10974546,10591208,10500065,10381646,9525867,9463381,8816500,8521816,16189514,15721256,9130713 638 NM_001197,AF174424,AL022237,AY245248,CH471138,BC001599,BM765910,BT006728,CR456390,CR541863,CR541883,U34584,U49730 NP_001188,AAF01156,CAA18260,AAO61089,EAW73282,EAW73283,EAW73284,AAH01599,AAP35374,CAG30276,CAG46661,CAG46681,AAC50413,AAC79124,Q13323,Q6FH93,CAK54379,CAK54678,ABM92195,ABM84664,ABM84671 Hs.475055 GDB:4048917 BIP1|BP4|NBK protein-coding 732350 BIN1 bridging integrator 1 This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynanim, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. 1580043,1580047,704404,704405,1580863 8782822,9182667,18154705,17699764,17676042,17671430,17611416,17218774,17210688,17081983,17059209,16530520,16516635,16381901,16115810,15992821,15489336,15483625,15302935,15207703,14704274,14702039,12972505,12773571,12668730,12558988,12532338,12477932,12456676,12183633,11709703,11422041,11384986,11306501,11230166,11076863,11032017,10903846,10899172,10764771,10738240,10652430,10449755,10430869,10391921,10094488,10036185,9603201,9418903,9395479,9356459,9348539,9341169,9315708,9280305,9223448,9195986,9182529,9110174,8725406,8619474,12604805 1580043,1580047 274 NM_139348,NM_139351,NM_139350,NM_139349,NM_139347,NM_004305,NM_139346,NM_139345,NM_139344,NM_139343,AC012508,CH471103,U83999,U84004,AF001383,AF004015,AF043898,AF043899,AF043900,AF043901,AF068914,AF068915,AF068917,AF068918,AF070576,AK127325,AL713697,BC004101,BT006865,CR613145,CR614291,U68485,U87558,AF068916 NP_647598,NP_647601,NP_647600,NP_647599,NP_647597,NP_004296,NP_647596,NP_647595,NP_647594,NP_647593,AAY24328,EAW95286,EAW95287,EAW95288,EAW95289,EAW95290,EAW95291,EAW95292,EAW95293,EAW95294,EAW95295,EAW95296,EAW95297,EAW95298,EAW95299,EAW95300,EAW95301,EAW95302,EAW95303,EAW95304,EAW95305,EAW95306,EAW95307,AAC23440,AAC23441,AAB61363,AAC51345,AAC39710,AAC39711,AAC39712,AAC39713,AAC24126,AAC24127,AAC24128,AAC23750,AAC23751,AAC28646,CAD28496,AAH04101,AAP35511,AAC17461,AAB63263,O00499,Q659B7,Q8WWH9,Q9BTH3,CAL37828 Hs.193163 GDB:9015269 AMPH2|AMPHL|DKFZp547F068|MGC10367|SH3P9 myc box dependent interacting protein 1 protein-coding 1315604 BIN2 bridging integrator 2 16541075,15489334,14702039,12477932,10903846,9373149,8125298 51411 NM_016293,AB032710,AC046135,CH471111,AB032698,AF146531,AK000783,AK093638,AK225911,BC047686,BG388638 NP_057377,BAA88125,EAW58186,EAW58187,EAW58188,BAA88108,AAD54227,BAA91376,AAH47686,Q9UBW5 Hs.14770 GDB:10796275 BRAP-1 protein-coding 1317921 BIN3 bridging integrator 3 The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. 1580863 11274158,16524918,16344560,15489334,14993925,14702039,12477932,9373149,8125298,17353931 55909 CR591250,CR596305,CR600556,CR607748,CR611814,CR612252,CR619432,CR619792,CR620938,CR623018,CR625006,CR626268,DA480525,NM_018688,AC037459,AC105046,CH471080,AF271732,BC050314,AK001289,AK023980,AK090446,AK124486,AK222470,BC001223,BC009824 Q53HW0,NP_061158,EAW63650,EAW63651,EAW63652,EAW63653,EAW63654,EAW63655,EAW63656,Q8NF35,Q9NQY0,AAF76218,BAA91603,BAB14751,BAC03427,BAD96190,AAH01223,AAH09824 Hs.708023 GDB:10796277 MGC14978 protein-coding 1347209 BIRC2 baculoviral IAP repeat-containing 2 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. 1580863,1643526,1643527,1643528,1643529 12865429,12851723,12651874,12603340,12571250,12525502,12477932,12388702,12243753,12218061,12209092,12208731,11907583,11906213,11604410,11583623,11562359,10929712,10404221,9892732,9642260,9545235,9384571,9373149,11084335,16282325,18022362,12761501,8548810,11106668,18230607,17822677,17626072,17220297,16929535,16775178,16701639,16510124,16339151,16189514,16180223,16080516,15911110,15861135,15665297,15501771,15489334,15359644,15318034,15187025,15183896,14960583,14960576,14708638,12888921,12887920,12867425,16983704,8943045,8938457,8643514,8552191,8125298,17158886,15353805,15580265 1643526,1643527,1643528,1643529 329 AP000942,CH471065,DQ068066,AK225856,BC016174,BC028578,BX647978,L49431,U37547,U45879,NM_001166 EAW67018,AAY46158,AAH16174,AAH28578,AAC41942,AAC50508,AAC50372,Q13490,Q8IZZ0,ABM83310,ABM86522,NP_001157 Hs.696238 GDB:9848645 API1|HIAP2|Hiap-2|MIHB|RNF48|cIAP1 protein-coding 732624 BIRC3 baculoviral IAP repeat-containing 3 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. The amino acid sequence predicts three baculovirus IAP repeat domains and a ring finger domain. Transcript variants encoding the same isoform have been identified. 1580863 16123224,16395405,8552191,8548810,18216531,18195037,17972100,17927572,17626072,17179183,17133355,17069460,16984419,16983704,16891304,16813569,16799641,16775419,16761316,16467195,16395399,16356540,16339151,16154993,16142363,15982633,15856013,15845643,15598810,15489334,15363040,15183896,15078890,15037009,15023888,14960576,14708638,14562112,14527959,12926068,12865429,12815069,12651874,12651604,12539042,12525502,12477932,12393423,12243753,12161039,12082024,11960389,11907583,11583623,11562359,11066071,10929712,10610122,9892732,9545235,9384571,8938457,8643514,15353805,10862606,15494311,15175157,10233894 330 NM_001165,NM_182962,AF178945,AP000942,AY764389,CH471065,AF070674,BC027485,BC037420,BQ718651,L49432,U37546,U45878 NP_001156,NP_892007,AAG09369,AAU88144,EAW67017,AAC83232,AAH37420,AAC41943,AAC50507,AAC50371,Q13489 Hs.127799 GDB:9848647 AIP1|API2|CIAP2|HAIP1|HIAP1|MALT2|MIHC|RNF49 apoptosis inhibitor 2 protein-coding 737482 BIRC5 baculoviral IAP repeat-containing 5 (survivin) This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors yet low in adult tissues. Antisense transcripts are involved in the regulation of this gene's expression. At least four transcript variants encoding distinct isoforms have been found for this gene, but the full-length natures of only three of them have been determined. 1580863,2293092,2293101,2293104,2293122,2293138,2293090,2293102,2293108,2293137,2293106,2293125,2293136,2293094,2293096,2293097,2293105,2293126,2293098,2293131,2293135,2293100,2293103,2293109,2293129,2293139,2293091,2293093,2293095,2293099 16239925,18401527,18334114,18316606,18251581,18251156,18251132,18242580,18206228,18181175,18171482,18154598,18089792,18069771,18058462,18057009,18055328,18032822,17982126,17967504,17965335,17961802,17956729,17943598,17905101,17881355,17879398,17877643,17869043,17785436,17718383,17714426,17706282,17704744,17687492,17656368,17641414,17638911,17635796,17624454,17616652,17613533,17609820,17584963,17582222,17569112,18027854,17559540,17548900,17543072,17536304,17534699,17533050,17509581,17505517,17464868,17457057,17451195,17376603,17361097,17341657,17337592,17328950,17304504,17289902,17285125,17255535,17239009,17204284,17203351,17170079,17167759,17143520,17128412,17127378,17124585,17108713,17099693,17098350,17095626,17087938,17084966,17077982,17045968,17038538,15138717,15126108,15077160,15004200,14988404,14741722,14734714,14699067,14676801,14614132,14610074,14597622,14597555,14583779,14581472,14527689,14523021,12963850,12926071,12925766,12885482,12883703,12854136,12833149,12805209,12794243,12773388,12709681,12678716,12660240,12654446,12643601,12609713,12569609,12556969,12517802,12510154,12495661,12477932,12419797,12393476,12388702,12374680,12363043,12235242,12174930,12168867,12143224,12133447,12119561,12115583,12085263,12073047,11976319,11925104,11888845,11877677,11875736,11861764,11844831,11821157,11773702,11728454,11712083,11516652,11256614,11170436,11134084,11084331,11076863,11069302,11024045,10949039,10891443,10876248,10713676,10626797,9859993,9850056,9556606,9373149,9256286,8125298,8106347,7947793,16189514,17353931,15271987,15655550,15638381,15637054,15628841,15623349,15611790,15569667,15547736,15541814,15541727,15531913,15512811,15489959,15489336,15489334,15477601,15457550,15456784,15383173,15334693,15334064,15326475,15309737,15294091,15280424,15260989,15249581,15218035,15195112,15149158,15148334,15139971,15670305,17012855,17008426,16950794,16873289,16863850,16850112,16847054,16826583,16825985,16807248,16773218,16764853,16762323,16761316,16714396,16671090,16644787,16608879,16595680,16571674,16565220,16552335,16534839,16529600,16525657,16525632,16516635,16470228,16462771,16436504,16427043,16407408,16404364,16381901,16372125,16364925,16329164,16291752,16254145,16211302,16211215,16202147,16173017,16171786,16142363,16142334,16123317,16108013,16055565,16048634,16026775,15993841,15991282,15986442,15943789,15938719,15936846,15928668,15923164,15916722,17015676,15896468,15894266,15882878,15870931,15831281,15829330,15829320,15817155,15809755,15802787,15743529,15735703,15729715,15709157,15688031,15685548 2293092,2293101,2293104,2293122,2293138,2293090,2293102,2293108,2293137,2293106,2293125,2293136,2293094,2293096,2293097,2293105,2293126,2293098,2293131,2293100,2293103,2293109,2293129,2293139,2293091,2293093,2293095,2293099 332 CR605755,CR607868,CR612752,CR619419,CR621516,CR624931,DQ227257,DQ310375,DQ310376,DQ310377,DQ310378,DQ310379,DQ508245,DQ508246,DQ508247,DQ508248,DQ508249,NM_001012271,NM_001168,NM_001012270,AC087645,AY795969,CH471099,U75285,AB028869,AB154416,AF077350,AI800528,AK223428,AL519719,AL547142,AY830084,AY927772,BC000784,BC008718,BC034148,BC065497,BE537971,BG178974,BG759111,BI254058,BI520186,BM476145,BQ687404,CB112371,CR541740,CR592187,CR593999,CR602197,CR603892 ABB76601,ABC42341,ABC42342,ABC42343,ABC42344,ABC42345,ABF60110,ABF60111,ABF60112,ABF60113,ABF60114,O15392,Q0JU06,Q969L1,CAL38006,NP_001012271,NP_001159,NP_001012270,AAV40840,EAW89511,EAW89512,EAW89513,EAW89514,AAC51660,BAA93676,BAD11155,AAD34226,BAD97148,AAW22624,AAY15202,AAH08718,AAH34148,AAH65497,CAG46540 Hs.514527 GDB:9848654 API4|EPR-1 protein-coding 1316326 BIRC6 baculoviral IAP repeat-containing 6 (apollon) This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. 1580863,1580055 14702039,12168954,8889548,10574462,7566098,15314180,15200957,10544019,18329369,15507451,15300255,14765125 1580055 57448 NM_016252,AC079837,AL133243,AL133245,AL133246,CH471053,AA315620,AB033115,AF265555,AK023788,AK023848,BM674459,BX345326,BX371410,BX411219,CA418956 NP_057336,EAX00443,EAX00444,EAX00445,EAX00446,EAX00447,BAA86603,AAF75772,BAB14679,BAB14700,Q9H8B7,Q9H8D8,Q9NR09 Hs.150107 GDB:10013849 APOLLON|BRUCE|FLJ13726|FLJ13786|KIAA1289 protein-coding 1345581 BIRC7 baculoviral IAP repeat-containing 7 (livin) The protein encoded by this gene is a member of the family of inhibitor of apoptosis proteins (IAP) and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Two transcript variants encoding different isoforms have been found for this gene. The two isoforms have different antiapoptotic properties, with isoform alpha protecting cells from apoptosis induced by staurosporine and isoform b protecting cells from apoptosis induced by etoposide. 1580863 11801603,11024045,11865055,11162435,18034418,17968430,17632732,17519534,17437058,17294084,17035597,16990595,16965834,16840203,16806840,16729033,16437214,16026775,15541814,15489334,15009721,14614456,12975309,12488298,12477932,11780052,11322947,11084335 79444 NM_139317,NM_022161,AJ309298,CH471077,AF301009,AF311388,AY358835,AY358836,AY517497,BC014475 NP_647478,NP_071444,CAC37337,CAC37338,EAW75302,EAW75303,EAW75304,AAG37878,AAG33622,AAQ89194,AAQ89195,AAS01729,AAH14475,Q6R308,Q96CA5,ABM84003,ABM87337 Hs.256126 GDB:11504361 KIAP|LIVIN|ML-IAP|MLIAP|RNF50 protein-coding 1349757 BIRC8 baculoviral IAP repeat-containing 8 15485395,12477932,12372615,11597143,11390657 112401 BC046168,BC056914,BC071665,NM_033341,AC092070,AF164682,AF420440,BC039318 AAH71665,Q6IPY1,Q6PIA0,Q96P09,NP_203127,AAK81892,AAL30369,AAH39318 Hs.348263 GDB:11505686 ILP-2|ILP2|hILP2 protein-coding 1323580 BIVM basic, immunoglobulin-like variable motif containing 12477932,12036287,11991713,9373149,8125298 54841 NM_017693,NG_007146,AL157769,CH471085,AF147319,AF339783,AF339793,AF411385,AK000166,AK225229,AK290658,BC020663,BC051813,BC075084,BC075085,BC112339,CR595458 NP_060163,CAI14526,EAX09070,AAM45761,BAA90986,BAF83347,AAH51813,AAH75084,AAH75085,AAI12340,Q86UB2 Hs.288809 GDB:11505688 MGC133326 protein-coding 1344292 BLACE B-cell acute lymphoblastic leukemia expressed 14667812 338436 AY166699 Hs.521326 FLACE protein-coding 1347383 BLCAP bladder cancer associated protein The protein encoded by this gene was identified using a differential display procedure with tumor biopsies obtained from a noninvasive and an invasive bladder transitional cell carcinoma. Although database searches revealed no homology to any human gene at the time of identification, mouse, rat and zebrafish orthologs have since been identified. The function of this differentially expressed protein is not yet known but it appears to be down-regulated during bladder cancer progression. 634549 17031575,16675915,16303743,15489334,14702039,12477932,11780052,10197429 634549 10904 NM_006698,AL109614,CH471077,AF053470,AI920860,AK074498,AK124822,AL049288,BC047692,BC071704,CB155706,CR591064,CR592095,CR595227,CR595359,CR596766,CR597740,CR602230,CR605169,CR605979,CR607161,CR618177,CR626043 NP_006689,CAC00475,CAM19261,CAM19262,CAM19263,CAM19264,EAW76056,AAC06370,AAH47692,AAH71704,P62952 Hs.472651,Hs.697283 GDB:9958577 BC10 protein-coding 1606631 BLID BH3-like motif containing, cell death inducer 17220890,15069058,12477932 414899 NM_001001786,AP001924,AF303179,BC130361,BC130363 NP_001001786,AAN31127,AAI30362,AAI30364,Q8IZY5 Hs.686109 BRCC2|MGC163233|MGC163235 protein-coding 1318874 BLK B lymphoid tyrosine kinase 1580863 2404338,18204098,14970218,12477932,12406557,11896452,10449731,9525867,9177269,8756631,8636124,8395016,8083187,7845672,7822795,7592958,7592787 640 NM_001715,AC022239,AF131216,CH471157,AL832875,BC004473,BC007371,BC018703,BC032413,BC038555,BQ057058,CR625422,S76617,Z33998 NP_001706,EAW65617,EAW65618,AAH07371,AAH18703,AAH32413,AAB33265,CAA83965,P51451,Q05D26,Q96IN1 Hs.146591 GDB:454114 MGC10442 protein-coding 1318795 BLM Bloom syndrome The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. 1580056,1580057,1580863,1599420 15289897,15257300,15229185,15064730,14688284,14685245,14576316,14517203,12975363,12974384,12826610,12702560,12606585,12477932,12444098,12433984,12242432,12181313,12080066,12034743,12019152,11960380,15489334,15302935,11950880,11919194,11916980,11877377,11876000,11790298,10359700,15604258,10779560,10728666,9388480,11500040,18270339,18264947,18054789,18003860,17984114,17961633,17943968,17855454,17728255,17634426,17603497,17599064,17591918,17457718,17407155,16964243,16880735,16876111,16864798,16766518,16620772,16595695,16565220,16537486,16412221,16199871,16030011,15990871,15965237,15959913,15845538,15805243,15775963,15750625,15726604,15635413,15616572,15579905,15539948,15509577,17878217,9388193,11433031,12818200,11781842,7585968,11309417,9671747,11741924,11716541,11691925,11532193,11472631,11470874,11406610,11278509,10871376,10862105,10851073,10825162,10823897,10783165,10734115,9285778,8022833,1518822,15143166,15364958,11399766,11325959,12973351,15806145 1580056,1580057,1599420 641 AC124248,AY886902,CH471101,BC034480,BC062697,BC093622,BC101567,BC107423,BC115028,BC115029,BC115030,BC115031,BC115032,CR597614,CR615303,U39817,AC021422,NM_000057,NG_007272 AAW62255,EAX02107,EAX02108,AAH93622,AAI01568,AAI07424,AAI15031,AAI15033,AAA87850,P54132,Q3B7X0,NP_000048 Hs.169348 GDB:135698 BS|MGC126616|MGC131618|MGC131620|RECQ2|RECQL2|RECQL3 protein-coding 1312244 BLMH bleomycin hydrolase Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. 1580058,1580059,1580863 9546396,8639621,18082847,17854420,16189514,15900213,15489334,12604387,12477932,12082022,11436125,11099722,10973933,10686410,10404591,10353821,10335922,9855622,9500538,9485374,9407121,9373149,9331073,8620487,8125298 1580058,1580059 642 NM_000386,AC087644,AC104984,CH471159,AF091082,AK223403,BC003616,BG471412,BT007018,X92106 NP_000377,EAW51224,AAC72951,BAD97123,AAH03616,AAP35664,CAA63078,Q13867 Hs.371914 GDB:3801467 BH|BMH protein-coding 1347273 BLNK B-cell linker This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1600518 9697839,10583958,9341187,18022864,17681949,16636677,16568084,16356554,16344560,16341674,15744341,15588985,15489334,15270728,14702039,12761551,12514734,12477932,12456653,12093870,11909947,11514608,11489945,11487585,11449366,11356834,11274146,11071869,10981967,10903736,10820378,10556826,10498607,9705962,9373149,8125298,16189514,15087455 1600518 29760 AM180330,AM180331,AM180332,AM180333,AM180334,AM180335,AM180336,AM180337,AM180338,AM180339,AM180340,AM180341,AM180342,AM180343,AM180344,AM180345,AM180346,BC018906,BC110298,BF975580,BM820310,BU597768,CR598772,DA045252,AM180329,NM_013314,NM_001114094,NG_007575,AC021037,AF180756,AL391057,CH471066,AF068180,AF068181,AI307343,AK027779,AK225546,AM180327,AM180328 CAJ55323,CAJ55324,CAJ55325,CAJ55326,CAJ55327,CAJ55328,CAJ55329,CAJ55330,CAJ55331,CAJ55332,CAJ55333,CAJ55334,CAJ55335,CAJ55336,CAJ55337,CAJ55338,CAJ55339,CAJ55340,AAH18906,AAI10299,Q2MD40,Q2MD42,Q2MD44,Q2MD46,Q2MD47,Q2MD48,Q2MD49,Q2MD50,Q2MD51,Q2MD52,Q2MD54,Q2MD55,Q2MD56,Q2MD57,Q2MD58,Q2MD59,Q8WV28,Q2YDB8,NP_037446,NP_001107566,AAF20382,AAF20383,EAW49980,EAW49981,AAC39936,AAC39937,CAJ55321,CAJ55322 Hs.665244 GDB:11504298 BASH|BLNK-S|LY57|MGC111051|SLP-65|SLP65 protein-coding 1316833 BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM] 1580863 14667819,15102850,17618940,16344560,12639951,12477932,10747963,10611234,9674425,8770567,8646881 2647 NM_001487,AC009779,CH471054,BC066340,BC130640,BC132795,CR621560,D64007,DA243440,S82447 NP_001478,EAW96824,AAI30641,AAI32796,BAA10887,AAB37682,P78537 Hs.94672 BLOS1|GCN5L1|MGC87455|MICoA|RT14 protein-coding 1315231 BLOC1S2 biogenesis of lysosome-related organelles complex-1, subunit 2 15102850,15489334,15381421,15164054,14702039,12923531,12576321,12477932,12191018,11483580 282991 NM_173809,NM_001001342,AL138921,AL139819,CH471066,AK054697,AY278457,AY531265,BC020494,BG679165,BI753469,CR619589,CR625003 NP_776170,NP_001001342,CAH72396,CAH72821,EAW49835,EAW49836,EAW49837,AAQ19606,AAT00461,AAH20494,Q6QNY1 Hs.702055 BLOS2|FLJ30135|MGC10120|RP11-316M21.4 protein-coding 1321173 BLOC1S3 biogenesis of lysosome-related organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. 15102850,17081983,16385460,12923531,12576321,12477932,12191018 388552 NM_212550,AC005757,AK130151,AK130186,AY531266,BU616355,DC422050,DN996082 NP_997715,BAC85300,AAT00462,Q6QNY0 Hs.103902,Hs.707367 BLOS3|FLJ26641|FLJ26676|HPS8|RP protein-coding 733010 BLVRA biliverdin reductase A Biliverdin reductases, such as BLVRA (EC 1.3.1.24), catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH (Komuro et al., 1996 [PubMed 8950184]).[supplied by OMIM] 1580863 10858451,17402939,17227757,15741166,15489334,14988408,12853948,12477932,12456881,8950184,8889548,8631357,8424666,7929092 644 NM_000712,AC004939,AC004985,AC005189,AY616754,CH236951,CH471073,AK291862,BC005902,BC008456,BM710258,CA418616,U34877,X93086 NP_000703,AAD05025,AAP21879,AAT11126,EAW94171,BAF84551,AAH05902,AAH08456,AAC35588,CAA63635,P53004 Hs.488143 GDB:119037 BLVR|BVR|BVRA protein-coding 1314490 BLVRB biliverdin reductase B (flavin reductase (NADPH)) 1580863 8117274,18241201,15489334,12626517,12477932,11224564,8799475,8687377,8313871,8280170,7929092,7656592,1286669 645 NM_000713,AC010271,AC020929,AY340485,CH471126,BC109371,BG340491,BU528444,CR591609,CR616568,D26308,D32143 NP_000704,AAP88933,EAW56969,EAW56970,EAW56971,EAW56972,AAI09372,BAA05370,BAA06874,P30043 Hs.515785 GDB:547788 BVRB|FLR|MGC117413 protein-coding 1349052 BLZF1 basic leucine zipper nuclear factor 1 (JEM-1) 9129147,11056056,16710414,15489334,14702039,12477932,11739746,11739401,10602419,9823948,9442054,9373149,8125298 8548 U79751,NM_003666,AF272386,AF272387,AF272388,AF273875,AF288162,AL021068,AL356852,CH471067,AF288161,AK055883,AK223533,AK291725,BC020716,BI458959,BI460514,CR591083,CR599652,CR622252 AAB63110,Q53EV6,Q5T532,Q5T533,Q5T534,Q9H2G9,ABM82306,ABM85483,NP_003657,AAG37822,AAG37821,CAI19239,CAI19240,CAI19241,CAI19242,EAW90837,EAW90838,EAW90839,AAG37835,BAD97253,BAF84414,AAH20716 Hs.130746 GDB:9955598 GOLGIN-45|JEM-1|JEM-1s|JEM1|MGC22497 protein-coding 1353512 BLZF2P basic leucine zipper nuclear factor 2 pseudogene 317729 NG_002462,AL132986 pseudo 1342866 BMF Bcl2 modifying factor The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. 737633 11546872,17557568,17360431,16830229,16484005,15694340,15489334,14702039,14574334,14561217,12591950,12477932,11214971,15721256 737633 90427 AY029254,AY222040,AY222041,BC060783,BC069328,BC069505,BC070043,BC104983,BC104985,BG744712,BQ064116,CB108463,N41452,NM_001003940,NM_033503,NM_001003943,NM_001003942,AC021755,CH471125,AI281003,AK024472 AAK38748,AAP22965,AAP22966,AAH60783,AAH69328,AAH69505,AAH70043,AAI04984,AAI04986,Q96LC9,NP_001003940,NP_277038,NP_001003943,NP_001003942,EAW92393,BAB15762 Hs.591104 FLJ00065 protein-coding 1348038 BMI1 BMI1 polycomb ring finger oncogene 1580058,1580059 16501599,16359901,16314526,16169070,16107895,16714294,16537449,16105758,15931389,15897469,15563468,15489334,15386022,15029199,15009096,14732230,14536079,12829790,12714971,12482990,12482919,12477932,12408802,12183433,12183370,12167701,11171983,10825164,10574711,9858531,9199346,9121482,9009205,8390036,8268912,16189514,17420273,7715727,9367786,18269588,17974970,17711569,17625597,17597110,17557835,17545584,17454639,17452456,17360938,17344414,17233832,17179983,17161394,17151361,17148591,17148583,17145814,17145810,17134822,17081983,16982619,16936260,16874656,16751658 1580058,1580059 648 NM_005180,AL158211,CH471072,BC011652,BT019450,CR456911,L13689,S62198,S62286 NP_005171,CAI15954,CAI15955,CAI15956,CAI15957,CAI15958,CAI15959,EAW86148,EAW86150,EAW86151,EAW86154,AAH11652,AAV38257,CAG33192,AAA19873,AAB27059,P35226,Q5T8Z1,Q5T8Z2,Q5T8Z3,Q5T8Z4,Q5T8Z5,Q5T8Z6,Q5U0M5,Q6IB93 Hs.496613 GDB:249556 MGC12685|PCGF4|RNF51 polycomb group ring finger 4 protein-coding 1352048 BMIQ1 body mass index quantitative trait 1 11713718 170815 1348709 BMIQ2 body mass index quantitative trait 2 11713718 192149 1349561 BMIQ3 body mass index quantitative trait 3 11713718 337895 1344681 BMIQ4 body mass index quantitative trait 4 11713718 338026 1605441 BMP1 bone morphogenetic protein 1 The BMP1 locus encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, BMP1 encodes a protein that is not closely related to other known growth factors. BMP1 protein and procollagen C proteinase (PCP), a secreted metalloprotease requiring calcium and needed for cartilage and bone formation, are identical. PCP or BMP1 protein cleaves the C-terminal propeptides of procollagen I, II, and III and its activity is increased by the procollagen C-endopeptidase enhancer protein. The BMP1 gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region 7798260,3201241,16824737,18349123,18056036,17548836,17516847,17407447,17255107,17071617,16806233,16507574,15817489,15591058,15525470,15225209,14759258,14702039,12637569,12637537,12477932,12218058,11986329,11741999,11283002,11260715,10806203,10479448,9500680,8643539,8553073,8530106,8404039,2004778,15857508 649 NM_006128,NM_001199,NM_006129,AC105206,CH471080,AB209590,AF318323,AK126396,AK226123,AK291620,AL137746,BC002593,BC009305,BC032105,BC044626,BC101763,BC101765,BC136679,BC142953,CR590306,CR592441,L35278,L35279,M22488,U50330,Y08723,Y08724,Y08725 NP_006119,NP_001190,NP_006120,EAW63697,EAW63698,EAW63702,BAD92827,AAL55830,BAF84309,AAI01764,AAI01766,AAI36680,AAI42954,AAC41703,AAC41710,AAA51833,AAA93462,CAA69973,CAA69974,CAA69975,P13497,Q3MIM8,Q59F71,Q8WYX3 Hs.1274 GDB:125203 FLJ44432|PCOLC|PCP|TLD protein-coding 1353352 BMP10 bone morphogenetic protein 10 The protein encoded by this gene is a member of the TGF-beta family of growth factors. Data suggest that the similar protein in mouse plays an important role in trabeculation of the embryonic heart. In human, this protein may signal through receptor serine/threonine kinases. 1580863 17068149,17921333,15815621,15489334,12477932,10072785 27302 NM_014482,AC097495,CH471053,AF101441,BC069080,BC101734,BC105063 NP_055297,AAY15075,EAW99863,AAC77462,AAH69080,AAI01735,AAI05064,O95393 Hs.158317 MGC126783 protein-coding 730933 BMP15 bone morphogenetic protein 15 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The transforming growth factor-beta superfamily includes large families of growth and differentiation factors. It is thought that this protein may be involved in oocyte maturation and follicular development as a homodimer or by forming heterodimers with a related protein, Gdf9. 1599496,734646,1580863 9849956,18227435,18006624,17826728,17464588,17027369,16645022,16508750,16464940,15809424,15772651,15489334,15136966,14970198,12477932,12446716,12419820,11741284,10998422,10888873,10443672 1599496,734646 9210 NM_005448,AF082349,AF082350,AJ132405,AL359914,CH471180,BC069155,BC117264,BC117266 NP_005439,AAC99768,CAB43531,CAI41226,EAW89914,AAH69155,AAI17265,AAI17267,O95972 Hs.532692 GDB:9955474 GDF9B|ODG2|POF4 protein-coding 733110 BMP2 bone morphogenetic protein 2 The protein encoded by this gene belongs to the transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation. 1580077,1625347,734647,1625350,1580863,2289030,1643592,2289037 17530715,17519894,17518682,17504062,17472960,17437303,17401695,17262821,17255107,17138967,17120779,17003113,16893455,16835229,16815889,16771708,16754660,16753015,16719933,16672363,16637042,16621789,16615932,16613856,16604289,16598384,16453284,16442268,16432645,16391828,16326713,16261446,16247476,16157126,16150699,16126463,16000303,15861517,15851600,15647840,15647827,15641068,15592496,15254224,15621726,15110716,2315314,11502704,15671031,17029022,17356069,18426824,18404105,18389292,18160401,18156628,18059158,18029192,17997109,17960657,17919499,17847004,17824831,17726567,17711857,17681894,17617489,17553463,15358784,15322112,15240857,15150273,15102076,15042598,15039429,15037653,15020244,14699493,14691541,14660436,14623234,14587031,14558086,14499589,13678785,12933820,12925611,12919699,12897139,12872164,12856332,12854828,12819188,12740218,12620973,12535648,12531697,12527559,12489168,12477932,12210753,12168799,12126644,12082094,12052447,12002771,11968014,17549388,11953135,11854297,11837817,11811554,11792561,11780052,11748585,11741887,11718007,11642720,11497252,11456401,11263668,11180925,10881198,10880444,10704850,10692589,10657699,10220513,10196167,10085302,10074410,9872992,9493905,9197246,8006002,7811286,3201241,2376592,2004778,1487246,15857508,7791754 1580077,1625347,734647,1625350,2289030,1643592,2289037 650 NM_001200,AF040249,AL035668,CH471133,BC069214,CR618407,M22489 NP_001191,AAF21646,CAB82007,EAX10386,EAX10387,AAA51834,P12643,AAI40326,AAI48690 Hs.73853 GDB:125204 BMP2A protein-coding 1604611 BMP2K BMP2 inducible kinase This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. 17081983,16753015,15489334,15254968,14702039,12665801,12477932,11693963,11500515,9853615 55589 AK021620,AK075278,AK292147,AL137275,AL137661,BC036021,CR608097,NM_198892,NM_017593,AC093841,AC098818,CH471057,AB015331,AF527532 BAC11515,BAF84836,CAB70673,CAB70863,AAH36021,Q4W5H2,Q9NSY1,ABM81920,NP_942595,NP_060063,AAY40926,EAX05829,EAX05830,EAX05831,EAX05832,EAX05833,EAX05834,EAX05835,BAA34790,AAM88867 Hs.146551 BIKE|DKFZp434K0614|DKFZp434P0116|HRIHFB2017 protein-coding 1344269 BMP2KL BMP2 inducible kinase-like 347359 XM_293293,XM_001715684,XM_936694,Z83843 XP_293293,XP_001715736,XP_941787,CAI42708,Q5H9B9 protein-coding 735356 BMP3 bone morphogenetic protein 3 BMP3 belongs to the transforming growth factor-beta (TGFB) superfamily. Bone morphogenic protein, also known as osteogenin, induces bone formation. 1580863,2289037 3201241,18311777,17924656,15489334,15475196,15269709,13678778,12477932,11642720,11138004,9434787,2612162,2211625,2004778,1970330 2289037 651 NM_001201,AC093883,CH471057,BC096269,BC096270,BC096271,BC117514,M22491 NP_001192,EAX05866,AAH96269,AAH96270,AAH96271,AAI17515,AAA51836,P12645 Hs.387411 GDB:125206 BMP-3A bone morphogenetic protein 3 protein-coding 730832 BMP4 bone morphogenetic protein 4 The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. 734648,1580863,2289025,2289037,1643593,1643597,1643592,2289003,2289004,2289006,629544,1643589,1643590,1643225,1643229 14749725,9804553,11502704,12141440,18369157,18317771,18305125,18292231,18252212,18076106,18029192,17847004,17785623,17696196,17640799,17570215,17556598,17516553,17472960,17429723,17350185,17343268,17275810,17272306,17262821,17255107,17253944,17189614,17015616,17003840,17003113,16769910,16719933,16604289,16542506,16514669,16373339,16341674,16195406,16126463,15861517,15777683,15775969,15591037,15516492,15516325,15489334,15388638,15231748,15186723,15173106,15102076,15039429,15020244,14973287,14672349,14660436,12897139,12865307,12766166,12702499,12606287,12531697,12477932,12445813,12404109,12235106,12163415,12064918,12054672,12019147,11867524,11771659,11706034,11642720,11472891,11441185,11427739,11282024,17989347,11241215,11156467,10894154,10706139,10657699,10457277,10809227,9701626,8889548,8702914,8645259,8146069,7811286,7673243,7644468,7579580,7558046,3201241,16189514 734648,2289025,2289037,1643593,1643597,1643592,2289003,2289004,2289006,629544,1643589,1643590,1643225,1643229 652 M22490,D30751,NM_001202,NM_130850,NM_130851,AF035427,AF035428,AF210053,AL138479,CH471061,EU518936,U43842,BC020546,BQ083000,BU683974,BX161385,BX161438,CR595138,CR603423,CR615807 BAA06410,AAA51835,P12644,Q53XC5,ABW03634,NP_001193,NP_570911,NP_570912,EAW80628,EAW80629,EAW80630,EAW80631,ACB21039,AAC72278,AAH20546,CAD61876,CAD61909 Hs.68879 GDB:125205 BMP2B|BMP2B1|MCOPS6|ZYME protein-coding 1314330 BMP5 bone morphogenetic protein 5 This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. 1580863 17220169,16542506,15861517,15516325,15489334,14660436,14574404,12477932,12131877,11967953,11865031,11807867,11642720,11580864,11564221,9950587,8630036,2263636,1427904,16189514 653 NM_021073,AL133386,AL137178,CH471081,S81957,AK291559,BC027958,CR605366,M60314 NP_066551,CAB81657,CAC12765,EAX04447,BAF84248,AAH27958,AAA36736,P22003 Hs.296648 GDB:127595 MGC34244 protein-coding 1353193 BMP6 bone morphogenetic protein 6 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has lead to speculation of possible bone inductive activity. 1580863,2289017,2289018,2289024,1643590,2289020 16527843,18349123,18187665,18070108,17924656,17899540,17575215,17574840,17262821,17238135,16886151,16604289,16547600,15877825,15861517,15784727,15548695,15516325,15186723,14660436,14623234,14574404,14558086,13130469,12897139,12477932,12140680,11401330,10582704,10504300,9512655,9435314,9417921,9331107,9116752,8089189,7605353,2263636,1453478,1427904 2289017,2289018,2289024,1643590,2289020 654 NM_001718,AF083030,AL133541,AL135778,CH471087,BC096084,BC096085,BC099624,BC099625,BC111763,BC112352,BC113018,BC113019,BC128031,M60315 NP_001709,AAC33283,CAI19472,CAI19426,EAW55219,AAH96084,AAH96085,AAH99624,AAH99625,AAI11764,AAI12353,AAI13019,AAI13020,AAI28032,AAA36737,P22004,Q4JCQ2,Q4VBA3,AAI60106 Hs.285671 GDB:127596 VGR|VGR1 2289435 BMD4_H protein-coding 1350917 BMP6P1 bone morphogenetic protein 6 pseudogene 1 9074928 266700 NG_000002,D87000 GDB:11510740 TGF-beta1P|TGFB1P pseudo 1344234 BMP7 bone morphogenetic protein 7 The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development and possible bone inductive activity. 1580863,1643589,2289029,2289030,2289031,2289041,1643225,2289034,1601494,2289039,1643590,2289032,2289033,2289036,2289037,2289038 12478285,12667445,14679171,11502704,14517293,18349123,18328806,18292470,18029192,17909016,17724140,17530716,17530715,17522432,17497692,17478078,17415633,17264867,17262821,17018615,17003840,16899516,16846353,16831023,16807538,16719933,16686760,16646979,16419056,16344560,16126463,15994952,15929982,15861517,15574511,15489334,15100360,15020244,14981086,14751565,14702039,14660436,14623234,14587033,12925612,12919879,12811818,12792780,12741987,12740218,12734180,12594282,12478660,12477932,12385776,11780052,11769973,11472891,11401538,10912525,9872992,9748228,8889548,8605097,8570652,8297380,8006002,7791754,7560881,2357959,2263636,1427904,16189514 1643589,2289029,2289030,2289031,2289041,1643225,2289034,2289039,1643590,2289032,2289033,2289036,2289037,2289038 655 AF210054,AF289090,AL122058,AL157414,CH471077,CQ786476,CS150682,CS237122,CS279049,CS284582,AK094784,AK291186,NM_001719,BC004248,BC008584,BM683430,CR610754,DA740733,M60316,X51801 NP_001710,AAG43508,AAF97256,CAB90273,CAC08434,EAW75529,EAW75530,EAW75531,CAG17752,CAJ29673,CAJ47525,CAJ86525,CAJ98562,BAF83875,AAH04248,AAH08584,AAA36738,CAA36100,P18075,Q9BTB3,Q9H2W7,Q9NQQ8,ABM82420,ABM85611,ABW03413 Hs.473163 GDB:127597 OP-1 protein-coding 1350211 BMP8A bone morphogenetic protein 8a 1580863 16710414,14702039,12477932 353500 NM_181809,AL365277,CH471059,AA732526,AK024413,AK127199,AY303954,BC093743,BC112044,BC131617,BU616301 NP_861525,EAX07272,EAX07273,BAB14915,BAC86882,AAP74559,AAH93743,AAI31618,Q4G0H3,Q6ZSR5,Q7Z5Y6,Q9H7R1 Hs.472497,Hs.472508 FLJ14351|FLJ45264 protein-coding 1353706 BMP8B bone morphogenetic protein 8b The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. 16710414,16314833,15063762,12477932,11427739,10894154,9070944,7757816,1460021 656 NM_001720,AL033527,AL049824,CH471059,AY303955,BC023526,BC108678,BQ888513,F07575 NP_001711,CAB75681,EAX07254,AAP74560,AAI08679,P34820,Q32NE5 Hs.664022 BMP8|MGC131757|OP2 protein-coding 1604514 BMPER BMP binding endothelial regulator 15489334,14766204,14702039,12897139,12690205,12477932,11853319 168667 NM_133468,AACC02000103,AC007350,AC010002,AB075845,AK289963,AY324650,BC060868,BX380517,CR609827 NP_597725,EAL24468,BAB85551,BAF82652,AAP89012,AAH60868,Q8N8U9 Hs.660998 CRIM3|CV-2|CV2 protein-coding 734372 BMPR1A bone morphogenetic protein receptor, type IA The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. 1580863,734650,1600589,1600590,1600591 12065756,15621726,8397373,17356069,18262054,18178612,18160401,17873119,17573831,17513295,17101085,17081983,16886151,16672363,16525031,16436638,16436528,16226113,15940369,15489334,15351706,15252450,15235019,12630959,12620973,12477932,12417513,12136244,12135884,11536076,11438941,11401330,11381269,11282024,11278302,11263668,11241215,11139569,10881198,10850425,10712517,10504300,10051328,9950587,9730621,9663660,9547239,9525338,8707881,8702914,8605097,8592941,7791754,9738003,15148321,10692589,16189514,11580864 734650,1600589,1600590,1600591 657 NM_004329,AC021036,AC025268,AC067750,CH471142,AK291764,BC028383,BM819272,CR608899,DQ786215,Z22535 NP_004320,EAW80320,BAF84453,AAH28383,CAA80257,P36894,ABM82450,ABM85640 Hs.524477 GDB:230245 ACVRLK3|ALK3|CD292 bone morphogenetic protein receptor, type 1a protein-coding 1353972 BMPR1APS1 bone morphogenetic protein receptor, type IA pseudogene 1 359949 1351193 BMPR1APS2 bone morphogenetic protein receptor, type IA pseudogene 2 359950 1354405 BMPR1B bone morphogenetic protein receptor, type IB This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. 1334470,1600593,1580863 12065756,15621726,14523231,17356069,18292470,17381068,17363346,17203235,17001689,16436528,16014698,15897891,10051328,15805157,15761153,15489334,15235019,15192043,14576167,12477932,12419820,12135884,11781009,11483516,11420127,11401330,11312159,11282024,11279102,10850425,10712517,10504300,9950587,9872992,9178898,8707881,8702914,8605097,8140412,7811286,7791754,15775969,9730621,9525338 1334470,1600593 658 NM_001203,AC004061,AC092609,AC093634,AC105395,CH471057,AK293008,AW299723,BC047773,BC069796,BC069803,D89675,U89326 NP_001194,EAX06060,BAF85697,AAH47773,AAH69796,AAH69803,BAA19765,AAC28131,O00238 Hs.598475 GDB:5892549 ALK-6|ALK6|CDw293 protein-coding 735373 BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. 1580076,1580077,1580863 15188402,15621726,11502704,7791754,17356069,18364108,18356561,18342887,18292470,18187665,18159113,17700526,17641158,17576816,17515463,17472960,17363346,17322283,17318011,17277049,17203235,17102831,16982201,16782755,16717148,16615932,16436528,16429403,16429395,16339917,16339782,16155937,16122479,16002577,15965979,15824058,15775752,15699281,15687131,15591269,15516492,15492256,15489334,15358693,15354178,15295086,15235019,15146475,15055271,15031260,14702039,14676131,14583445,12963706,12543773,12477932,12415595,12358323,12221115,11401330,11115378,11015450,10973254,10964520,10903931,10880444,10712517,10051328,9525338,9193425,9054941,8707881,8702914,8592941,7890683,7673243,7644468,16282533,12135884,11714695,11686884,11484688 1580076,1580077 659 NM_001204,AC009960,AC064836,AC073410,CH471063,AK023426,AK093832,AK292430,AY277593,BC018743,BC032011,BC035097,BC041039,BC043650,BC052985,BF063564,BG530017,BQ889263,BQ896556,BU176845,C15977,CR594123,D50516,U20165,U25110,Z48923 NP_001195,AAX76517,AAY24146,AAX88941,EAW70309,EAW70310,BAF85119,AAQ18032,AAH52985,BAA09094,AAC50105,AAA86519,CAA88759,Q13161,Q13873,Q4ZG08,Q53SA5,Q585T8,Q597H5 Hs.471119 GDB:642243 BMPR-II|BMPR3|BMR2|BRK-3|FLJ76945|PPH1|T-ALK|TRG10 bone morphogenic protein receptor, type ii (serine/threonine kinase) protein-coding 1345685 BMS1 BMS1 homolog, ribosome assembly protein (yeast) Yeast Bms1 regulates cleavage and processing at the A0, A1, and A2 sites of the 35S ribosomal RNA (rRNA) precursor to release mature rRNAs in ribosome biosynthesis (Gelperin et al., 2001 [PubMed 11565749]).[supplied by OMIM] 1580863 15635413,15489334,12477932,11790298,11779832,11565749,8724849 9790 NM_014753,AL022344,CH471160,BC043345,BC150252,D80009 NP_055568,CAI23617,EAW86571,EAW86572,EAW86573,AAH43345,AAI50253,BAA11504,Q14692,Q5QPT5 Hs.10848 BMS1-LIKE|BMS1L|KIAA0187 bms1-like, ribosome assembly protein (yeast) protein-coding 1351957 BMS1LP4 BMS1L pseudogene 4 414218 1346721 BMS1LP6 BMS1L pseudogene 6 414220 1343586 BMS1LP7 BMS1L pseudogene 7 414221 1348383 BMS1P1 BMS1 pseudogene 1 728053 NG_006113,AL450334,AL603982 BMS1LP1|bA556L1.3 bms1l pseudogene 1 pseudo 1345179 BMS1P2 BMS1 pseudogene 2 414216 NG_006110,AL391137 BMS1LP2|bA144G6.1 bms1l pseudogene 2 pseudo 1347648 BMS1P3 BMS1 pseudogene 3 414217 NG_006111,AL136982 BMS1LP3|bA96C23.1 bms1l pseudogene 3 pseudo 1348554 BMS1P5 BMS1 pseudogene 5 12477932 399761 NR_003611,AL731733,BX641006,AL832069,BC017177,BC065722,BC131568,CR936774 AAH65722,AAI31569,Q6P095,Q6ZMK7 Hs.314437,Hs.645346,Hs.647203 BMS1LP5|bA508M1.1 bms1l pseudogene 5 pseudo 1605440 BMX BMX non-receptor tyrosine kinase Tyrosine kinases are either receptor molecules, which contain transmembrane and extracellular domains, or nonreceptor proteins, which are located intracellularly. One family of nonreceptor TKs includes the genes TEC (MIM 600583), TXK (MIM 600058), ITK (MIM 186973), and BTK (MIM 300300). All of these proteins are homologs of the Drosophila Src28 TK and contain an SH3 and SH2 domain upstream of the TK domain.[supplied by OMIM] 16186805,9520419,7970727,18196928,18025155,17823122,16932810,16912182,15489334,15342556,15207703,14981536,14676838,14532277,12573241,12477932,12370298,11877430,11751885,11382770,11331870,11278797,11013262,10962576,10688651,10196179,9373245,9323053,8790141,8650201,16189514,16025104 660 NM_203281,NM_001721,AC097625,CH471074,AF045459,AK291824,BC016652,BP236451,BQ226991,CB998198,U08341,X83107 NP_975010,NP_001712,EAW98889,EAW98890,AAC08966,BAF84513,AAH16652,AAA17744,CAA58169,P51813,ABM81985,ABM87813 Hs.495731 GDB:439051 ETK|PSCTK2|PSCTK3 protein-coding 1319162 BNC1 basonuclin 1 The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. This gene seems to have multiple alternatively spliced transcript variants, but their full-length nature is not known yet. There seems to be evidence of multiple polyadenylation sites for this gene. 1580863 9099851,1332044,8034748,16891417,15146197,12477932,11076863,10839715,10524234,10462520,10449744,9727087,9687312,9223293,9151672,15694340 646 NM_001717,AC103876,CH471188,U59692,U59693,U59694,AI921950,CN260997,L03427 NP_001708,EAW62424,AAB53028,AAA35584,Q01954,AAI11599 Hs.459153 BNC|BSN1|HsT19447 protein-coding 1321747 BNC2 basonuclin 2 16942855,16891417,16344560,15081112,14988505,14702039,12477932,15949438 54796 NM_017637,AL162418,AL449983,AL450003,AL450105,AK000050,AK025882,AK092247,AK131398,AW188023,AY438376,BC037160,BX641030,CR933649,DA494074,DB282126,DQ884933,DQ884934,DQ884936,DQ884937,DQ884938,DQ884939,DQ884940,DQ884941,DQ884942,DQ884944,DQ884945,DQ884946,DQ884947,DQ884948,R69412 NP_060107,BAB15269,BAC03837,BAD18545,AAR99389,CAI45950,ABI78982,ABI78983,ABI78984,ABI78985,ABI78986,ABI78987,ABI78988,ABI78989,BAA90908,ABI78990,ABI78991,ABI78992,ABI78993,ABI78994,ABI78995,Q06HB5,Q06HB7,Q06HB8,Q06HB9,Q06HC0,Q06HC1,Q06HC2,Q06HC3,Q06HC4,Q06HC5,Q06HC6,Q06HC7,Q5H9S4,Q6ZN30,AAI56478 Hs.656581,Hs.693437 BSN2|DKFZp686A01127|FLJ20043|FLJ34928 protein-coding 732440 BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. Alternative splicing of this gene results in four protein products with identical N- and C-termini. 7954800,15272311,15489334,12477932,10217402,7478990,1332047 662 NM_013979,NM_013980,NM_001205,NM_013978,AC008378,AY246554,CH471062,AF083956,AF083957,AF083958,AU311051,AY216799,BC010959,BP384034,CR597535,CR611484,CR619435,U15172 NP_053582,NP_053583,NP_001196,NP_053581,AAO61090,EAW61405,EAW61406,EAW61407,EAW61408,EAW61409,EAW61410,EAW61411,EAW61412,EAW61413,AAC33124,AAC33125,AAC33126,AAO91805,AAH10959,AAC00020,Q12981 Hs.145726 GDB:5903579 NIP1|SEC20|TRG-8 protein-coding 1319009 BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. Though the specific function is unknown, it interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. 634550,1580863 10799524,7954800,10381623,16189514,15652341,15489334,12944407,12901880,12477932,11744098,11741952,10954711,10551883 634550 663 NM_004330,AC092755,AY268590,CH471082,BC002461,BX378770,CR597487,CR616047,DC425485,U15173 NP_004321,AAP03429,EAW77575,EAW77576,AAH02461,AAC00021,Q12982,ABM82882,ABM86068 Hs.646490 GDB:5912680 BNIP-2|NIP2 protein-coding 1350913 BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. This gene contains a BH3 domain and a transmembrane domain, which have been associated with pro-apoptotic function. The dimeric mitochondrial protein encoded by this gene is known to induce apoptosis, even in the presence of BCL2. 634550,1580863 10381623,9396766,10891486,7954800,9973195,18359286,18163427,18092960,18059169,17928295,17786027,17729412,17638890,17638546,17576813,17576382,17394490,17360363,17255267,16803523,16799636,16765911,16357180,16219518,16217754,16189514,16169070,16002567,15856026,15709167,15560738,15489334,15328198,15289340,15164054,12879018,12690108,12477932,12215374,10625696,9867803,9575197,9373149,8125298,7478990 634550 664 NM_004052,AL162274,AL732395,AY886764,CH471066,CQ975900,AF002697,AK222626,BC009342,BC021989,BC067818,BC080643,CR626676,U15174 NP_004043,CAD13201,AAW62256,EAW49143,CAI45349,AAC16738,BAD96346,AAH21989,AAH67818,AAH80643,AAC00022,Q12983,Q53HF4,Q66K24,Q6NVY4 Hs.144873 GDB:5912681 NIP3 protein-coding 1350585 BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally-induced cell death, as well as E1B 19 kDa-like sequences of BCL2, also an apoptotic protector. The protein encoded by this gene is a functional homolog of BNIP3, a proapoptotic protein. This protein may function simultaneously with BNIP3 and may play a role in tumor suppression. 1580863 10381623,9973195,18048346,17081983,16219518,16189514,15607964,15489334,14720367,12663450,12606722,12477932,11230166,10467396,9867803,9523198 665 CD244492,CD558918,CR456701,CR598147,CR606234,CR607895,CR617632,CR623582,CR624662,CR624736,NM_004331,AC011726,AC022911,AF255051,CH471080,AA946755,AB004788,AF060922,AF067396,AF079221,AF452712,AF536326,AK290213,AL132665,BC001559,BC009603,BF337139,BQ719112,BT019500,BT019501 AAV38308,CAG32982,O60238,Q5JW63,Q6IBV1,Q9H3K3,NP_004322,AAF70290,EAW63576,AAG43134,AAD03589,AAC27723,AAL50978,AAN04051,BAF82902,CAI46217,AAH01559,AAH09603,AAV38307,BAA28692 Hs.131226 GDB:6278876 BNIP3a|NIX protein-coding 1348562 BNIP3P BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 319138 NG_002516,AL139023 pseudo 1319839 BNIPL BCL2/adenovirus E1B 19kD interacting protein like 12901880,11741952,12681488,17961507,16710414,16344560,16143817,15489334,15112343,14702039,12477932 149428 NM_138278,AL590133,CH471121,AF193056,AK092595,AY033000,AY078983,AY078984,BC027868,BC074779,BC074780,DB202257 NP_612122,CAI13344,CAI13345,CAI13347,CAM16833,EAW53483,EAW53484,AAG22484,AAK54348,AAL85483,AAL85484,AAH27868,AAH74779,AAH74780,Q5SZF6,Q7Z465 Hs.591473 GDB:11508892 BNIP-S|BNIPL-1|BNIPL-2|BNIPL1|BNIPL2|PP753 protein-coding 1605311 BOC Boc homolog (mouse) CDON (MIM 608707) and BOC are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat family involved in myogenic differentiation. CDON and BOC are coexpressed during development, form complexes with each other in a cis fashion, and are related to each other in their ectodomains, but each has a unique long cytoplasmic tail.[supplied by OMIM] 11782431,16647304,15520228,14702039,12975309,12720294,12634428,12477932,8889548 91653 NM_033254,AC026329,CH471052,AK056359,AK074556,AK090455,AL133599,AY027658,AY358328,BC032071,BC034614,BC075829,BC136390,BM673254,BX647184 NP_150279,EAW79643,EAW79644,EAW79645,EAW79646,BAB71163,BAC11057,BAC03436,AAK14795,AAQ88694,AAH34614,AAI36391,Q96DN7,Q9BWV1 Hs.591318 protein-coding 737138 BOK BCL2-related ovarian killer The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains all four BCL-2 like domains (BH1, 2, 3 and 4) and is a pro-apoptotic BCL-2 protein identified in the ovary. 70678,1580863 9356461,16772296,16302269,15868100,15775999,15489334,15102863,12477932,11034351,10811653,10579309,9535847 70678 666 NM_032515,AC110299,AC133528,CH471063,AF089746,AF174487,BC006203,BC017214,BG118500,BI550157,BT007272,BU855574,BX372066,CD368092,H17007 NP_115904,AAY14684,AAY14917,EAW71268,EAW71269,EAW71270,EAW71271,EAW71272,EAW71273,EAW71274,AAF09129,AAD51719,AAH06203,AAP35936,Q53NU8,Q53QM7,Q9UL32,Q9UMX3,ABM84167,ABM87570 Hs.293753 GDB:9798395 BCL2L9|BOKL|MGC4631 bcl-2-related ovarian killer protein protein-coding 1606296 BOLA1 bolA homolog 1 (E. coli) 17353931,16964243,16710414,15489334,14718656,12477932,10810093 51027 NM_016074,AL591493,CH471121,CS072310,AF151901,BC002771,BC063405 NP_057158,CAI12571,EAW53599,EAW53600,EAW53601,EAW53602,CAI93448,AAD34138,AAH63405,Q0P6J5,Q9Y3E2 Hs.13880 CGI-143|MGC75015|RP11-196G18.18 protein-coding 1605757 BOLA2 bolA homolog 2 (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. 15489334,14718656,12665801,12477932 552900 NM_001031827,NG_005304,AC133555,AF060511,AK027255,BC022832,BC062756,BC104642,BC130401,BC130403,BG032591 NP_001026997,AAG43129,AAH22832,AAH62756,AAI30402,AAI30404,Q9H3K6 Hs.444600 BOLA2A|My016 protein-coding 1605447 BOLA2B bolA homolog 2B (E. coli) This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene. 14718656 654483 NM_001039182,NG_005305,AC106782 NP_001034271,AAI48565,AAI53145 Hs.647333 protein-coding 1606380 BOLA3 bolA homolog 3 (E. coli) 15815621,14718656,12477932 388962 NM_001035505,NM_212552,AC073263,CH471053,AI652095,BC017744,BC028282,BC042036,BC046531,BU600037,DQ225187 NP_001030582,NP_997717,AAX93059,EAW99699,EAW99700,AAH28282,ABB04094,Q53S33,Q8IVU7,Q8N338,AAI48672,AAI53209 Hs.61472 protein-coding 1352689 BOLL bol, boule-like (Drosophila) This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 16001084,12499397,11390979,17114206,15705409,15489334,15379971,15070965,15066460,14702039,12477932,8657280,12511597 66037 NM_033030,NM_197970,AC011997,CH471063,AF272858,AI424966,AK058099,AK093453,AK097795,AK098824,AM295005,BC033674 NP_932074,NP_149019,AAX93045,EAW70171,EAW70172,EAW70173,AAK58689,BAB71664,BAC04171,CAL25726,AAH33674,Q0JW32,Q53T62,Q8N9W6 Hs.169797 GDB:11500593 protein-coding 1321585 BOP1 block of proliferation 1 1580863 17353931,17081983,16964243,16804918,16565220,15635413,15489334,15225545,12477932,12429849,12048210,11790298,11522832,11390653,11237751,9829985,8590280 23246 NM_015201,AC110280,CH471162,AB060694,AK024840,AK290677,BC001086,BC005160,BC007274,BC013787,BC013980,BC017674,BC073813,BC098446,BE280443,BQ961780,D50914 NP_056016,EAW82133,BAB70666,BAF83366,AAH01086,AAH05160,AAH07274,AAH13787,AAH13980,AAH17674,AAH73813,AAH98446,BAA09473,Q14137,Q4G0D9,Q6DKJ9,Q96Q25,ABM87814,ABW03699 Hs.535901,Hs.645279 GDB:9784798 KIAA0124 protein-coding 1347316 BPESC1 blepharophimosis, epicanthus inversus and ptosis, candidate 1 10995571 60467 Q9GZL8 NM_021812,AF196864 GDB:11505495 1605438 BPGM 2,3-bisphosphoglycerate mutase 2542247,17052986,15489334,15258155,14702039,12690205,12477932,9832630,9308888,8440681,6313356,3036106,3023066,2844822,2824335,1387804,1320611,152321,16189514 669 CR603055,CR606892,CR609356,CR610964,CR619111,CR620521,CR622667,CR624843,CR625091,CR625693,CR626310,CR626473,X04327,NM_001724,NM_199186,AC009276,CH236950,CH471070,M23068,AB209044,AK097778,BC017050,BM090687,BU664387,BX473275,CB994648,CF242942,CR590616,CR593475,CR594656,CR598334,CR598794,CR599636,CR599848,CR602739,CR602979 CAA27858,P07738,Q59GR5,NP_001715,NP_954655,EAL24067,EAW83821,EAW83822,EAW83823,EAW83824,AAA51840,BAD92281,AAH17050 Hs.198365 GDB:119039 protein-coding 1316844 BPHL biphenyl hydrolase-like (serine hydrolase; breast epithelial mucin-associated antigen) The serine hydrolases, including BPHL, are defined as a functional class of hydrolytic enzymes that contain a serine residue in their active site. They can be grouped into subfamilies that contain closely related members in terms of substrate specificity or amino acid sequence similarity (Puente and Lopez-Otin, 1995 [PubMed 7759552]).[supplied by OMIM] 7759552,15832508,14574404,12732646,12477932,9721218,2393862 670 NM_004332,AJ001980,AL031963,CH471087,AJ617684,AL832502,BC037778,BC106901,X57653,X81372 NP_004323,CAD70626,CAD70627,EAW55119,EAW55120,EAW55121,EAW55122,EAW55123,CAE85120,AAH37778,AAI06902,CAA40859,CAA57137,Q49AI2,Q86WA6 Hs.10136 GDB:638795 Bph-rp|MCNAA|MGC125930|MGC41865 protein-coding 1352137 BPI bactericidal/permeability-increasing protein This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has bactericidal activity on gram-negative organisms. 1580079,1580863 2722846,17898994,17678885,17675509,17483073,17239348,17012258,16893388,16861658,16380496,16282362,15758620,15590754,15342556,15009116,14623259,12913926,12784398,12738651,12710851,12521224,12477932,11891303,11780052,11420435,11373419,9616176,9240454,9188532,8432532,8330906,7517398,3667613,2501794 1580079 671 NM_001725,AL359555,AL391692,AL499625,AL583962,CH471077,CQ800679,Y14215,Y14216,Y14217,Y14218,Y14219,Y14220,Y14221,Y14222,Y14223,Y14224,Y14225,Y14226,Y14227,Y14228,Y14229,AF322588,AI436120,BC032230,BC040955,BP306215,DQ414688,J04739 NP_001716,CAC10453,CAI41452,CAC27350,CAI43242,CAI43244,EAW76035,CAG28072,AAG42844,AAH40955,ABD66755,AAA51841,P17213,Q9UCT4 Hs.529019 GDB:131572 protein-coding 1322016 BPIL1 bactericidal/permeability-increasing protein-like 1 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. 1580863 16740002,15489334,15340161,12975309,12837268,12477932,12185532,11971875,11780052,11018263 80341 NM_025227,AL121756,CH471077,AF465765,AK027068,AK172819,AY358723,BC034415 NP_079503,CAC18884,EAW76341,AAM73983,BAD18788,AAQ89085,AAH34415,Q6ZME0,Q8N4F0,ABM83406,ABM86617 Hs.257045 GDB:11508833 C20orf184|LPLUNC2|RYSR|dJ726C3.2 protein-coding 1323273 BPIL2 bactericidal/permeability-increasing protein-like 2 1580863 12185532,10591208 254240 NM_174932,AL021937,CH471095,AF465766,BC131582 NP_777592,CAI19585,CAI19586,EAW60022,AAM73984,AAI31583,Q5TI88,Q8NFQ6 Hs.372939 GDB:11508863 protein-coding 1323145 BPIL3 bactericidal/permeability-increasing protein-like 3 1580863 12477932,12185532,11780052 128859 NM_174897,AL121756,CH471077,AF465767,BC113122 NP_777557,CAI22530,EAW76339,EAW76340,AAM73985,Q8NFQ5,AAI40307,AAI46465 Hs.375090 GDB:11508864 LPLUNC6 protein-coding 1350405 BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. 10224133,15489334,14702039,12477932 10380 NM_006085,AC103590,CH471100,AF125042,AJ249339,AK021941,AK291943,BC017801,BG114910,BG428446,CR599062 NP_006076,EAW93306,EAW93307,EAW93308,AAD17329,CAB65115,BAF84632,AAH17801,O95861 Hs.406134 GDB:9956492 PIP protein-coding 1315998 BPTF bromodomain PHD finger transcription factor This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. 1580863 14609955,10403843,10575013,10727212,7621746,17081983,16728978,16728976,16137655,15489334,15379550,15302935,14702039,12634501,12477932,11640947,10662542,9225734,8975731,8950167,8889548 2186 NM_004459,NM_182641,AC006534,AC107377,AC134407,CH471099,AB032251,AK022081,AK022570,AK025776,AK027184,AL833375,AY282495,BC037422,BC039881,BC050566,BC067234,BE464864,BQ716216,BU169920,BU176205,CF135401,CV809604,U05237 NP_004450,NP_872579,EAW89038,EAW89039,BAA89208,BAB15686,AAP22284,AAH50566,AAH67234,AAA97522,Q12830,Q86TN2,Q9H5E0 Hs.444200 GDB:4573958 FAC1|FALZ|NURF301 fetal alzheimer antigen protein-coding 1352551 BPY2 basic charge, Y-linked, 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. 1580863 12207887,14627543,9381176,12724276,17511727,15177557,12815422 9083 NM_004678,NG_004755,AC006366,AF000980 NP_004669,AAC51828,O14599 Hs.664724 BPY2A|VCY2|VCY2A protein-coding 1344816 BPY2B basic charge, Y-linked, 2B This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. 15177557,14627543,12815422,12724276,12207887,9381176 442867 NM_001002760,NG_004755,AC010153,CH471236 NP_001002760,EAW55859,O14599,AAI40268 Hs.632848 BPY2|VCY2|VCY2B protein-coding 1353479 BPY2C basic charge, Y-linked, 2C This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. 15177557,14627543,12815422,12724276,12207887,9381176 442868 NG_004755,AC016728,NM_001002761 O14599,AAI48465,AAI56665,NP_001002761 Hs.664724 BPY2|VCY2|VCY2C protein-coding 735645 BRAF v-raf murine sarcoma viral oncogene homolog B1 This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. 1580093,1580103,1580863,1580106,1626216 16354586,16354196,16268813,16199894,16181547,16181240,16179870,16179867,16174717,16172610,16144912,16143028,16129781,16123397,16098042,16096377,16079850,16024606,16015629,16007203,16007166,15998781,15994075,15980887,15968271,15935100,15904951,15880523,15842051,15824163,15791648,15791479,15782118,15765445,15761501,15710605,15705790,15702478,15653554,15632082,15630448,15577314,15538400,15489648,15489334,15488754,15373778,15339934,15331929,15330192,15313890,15302935,15277467,15273715,15263001,15191558,15186612,15179189,15161700,16361694,17487504,17487277,17483702,17464312,17454879,17453358,17453004,17440063,17393356,17387744,17366577,17360030,17355635,17318013,17315191,17312306,17309670,17302867,17297294,17270239,17227125,17199737,17195912,17192257,17186541,17179987,17170014,17159915,17148775,17143285,17119447,17119056,17097223,17074813,17060774,17044028,17018604,17001349,16987295,16973828,16964379,16964243,16959844,16953233,16946010,16937524,16932278,16924241,16918957,16918136,16912199,16879389,16858683,16858395,16845322,16809487,16804544,16803888,16799476,16786134,17353931,9207797,2284096,10712923,18402768,18383861,18368129,18310288,18310287,18310286,18267069,18228248,18227705,18224685,18199160,18172070,18098337,18061181,18045960,18042262,18032947,18024410,18008004,18000091,17972530,17962436,17942568,17940185,17914558,17911174,17878251,17786355,17785355,17727338,17721188,17717450,17714762,17704260,17699719,17696195,17693984,17685465,17671688,17663506,17635919,17603482,17566669,17535994,17525723,17520704,17518771,17516929,17507627,17488796,16773193,16728573,16721785,16691193,16687919,16618717,16601293,16547495,16537381,16487015,16474404,16462768,16452550,16452469,16439621,16424035,16417232,16413100,16397024,16382052,16376942,16373964,16371460,16364920,15145515,15140228,15126572,15104286,15077125,15014028,15009715,15009714,15001635,14966563,14961576,14734469,14724583,14722037,14719068,14702039,14695993,14695152,14691295,14688025,14668801,14639609,14618633,14612909,14602780,14534542,14522897,14513361,14507635,15150271,12970315,12960123,12931219,12917419,12893203,12881714,12879021,12855697,12853948,12824225,12821662,12810628,12778069,12753285,12697856,12690205,12670889,12644542,12619120,12477932,12460919,12460918,12447372,12198537,12138204,14501284,14500344,12068308,11510412,11410590,11325826,11278445,11032810,10931830,10869359,10854065,10205168,9847074,8668348,8621729,7731720,7706312,3043188,1630826,1565476,1508179,9154803,15778465,12620389,15035987 1580093,1580103,1580106,1626216 673 BC101757,BC112079,BM263585,DB454480,DN996440,M21001,M95712,BC038966,NM_004333,NG_007873,AC006006,AC006344,AC006347,AC079339,CH236950,CH471070,X65187,AA252358,AA834931,AI203435,AK054801,AK314346,AW971583 AAI01758,AAI12080,AAA96495,AAA35609,P15056,Q75MQ8,NP_004324,AAS00359,AAD43193,AAD15551,EAL24023,EAW83964,EAW83965,CAA46301 Hs.550061 GDB:127513 B-RAF1|BRAF1|FLJ95109|MGC126806|MGC138284|RAFB1 protein-coding 1346538 BRAFPS2 v-raf murine sarcoma viral oncogene homolog B1 pseudogene 2 1630826 286494 NG_003108,AC020717,X65188 BRAF2 pseudo 1348068 BRAP BRCA1 associated protein The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. 14724641,9497340,18380995,15340083,10777491,10508479,8889548 8315 NM_006768,AC002996,AC137055,CH471054,AB208878,AF035620,AF035950,AK290379,AY332222,BU674276,CR623955 NP_006759,EAW97972,BAD92115,AAC24200,AAB88538,BAF83068,AAP93638,Q59H81,Q7Z569 Hs.530940,Hs.577448 GDB:9864785 BRAP2|IMP|RNF52 protein-coding 69132 BRCA1 breast cancer 1, early onset This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as BASC for BRCA1-associated genome surveillance complex. This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complex. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants have been described for this gene but only some have had their full-length natures identified. 1580863,1599502,734655,734657,734656,1599497,1578504,2293150,2293156,2293014,2293154,2293190,2293149,2293151,2293153,2293155,2293152 18098285,18097605,18095154,18094425,18094417,18092194,18090912,18083712,18080788,18077395,18071589,18045956,18042939,18036997,18034184,18026875,18000219,17999359,17997147,17996703,17990525,17987791,17972177,17972172,17968145,17952592,17942895,17925560,17924331,17922413,17922257,17922032,17921118,17917796,17916242,17873885,17851763,17850627,17803681,17767707,17766039,17764108,17761984,17722998,17719744,17697535,17694537,17688236,17686308,17685459,17683622,17680524,17673924,17664283,17646271,17640328,17636424,17636423,17635951,17634561,17627006,17626182,17625228,17625123,17624602,17621610,17616687,17616665,17612526,17603881,17599361,17592676,17591844,17591843,17591842,17585057,17582599,17561994,17557253,17545591,17541742,17531442,17525342,17525341,17525340,17520345,17505559,17505536,17505062,17497966,9662397,15572661,15965487,12214252,15905410,8944023,10918303,14654789,17349954,16326698,16288014,12242698,10910365,15265711,10550055,14976165,18489799,18483851,18481196,18463975,18451254,18439109,18434071,18431737,18431501,18429825,18415014,18413372,18405391,18402691,18397521,18375895,18375767,18355772,18312450,18296025,18288416,18286383,18284688,18279628,18258506,18257128,18256760,18242166,18230721,18208621,18205043,18204050,18200524,18197009,18182994,18182601,18176857,18175183,18172292,18172190,18171670,18165637,18165636,18162055,18159056,18158561,8895509,18158280,17262179,17257844,17253935,17250666,17244477,17233897,17229870,17221156,17220212,17217814,17210933,17196508,17185394,17180310,17161371,17160431,17151928,17148771,17145961,17145825,17145824,17140287,17119064,17106239,17100994,17081983,17080309,17078101,17063270,17063265,17063264,17061047,17051349,17047656,17039264,17021353,17020472,17018160,17010055,17004108,17000754,16998500,16998499,16998498,16998496,16996204,16979166,16969499,16949048,16945238,16944270,16944269,16941470,16940470,16940443,16931905,16914727,16912212,16912201,16905680,16860316,16847550,16843262,16843109,16837909,16830385,16826315,16998791,17496925,17493881,17492376,17484040,17471561,17470134,17453335,17452776,17445839,17434164,17428466,17428325,17428320,17426707,17420720,17420471,17416853,17413421,17409195,17406974,17405295,17404506,17397054,17392432,17384678,17380889,17374731,17373631,17341484,17334399,17333477,17333343,17333342,17333338,17324252,17321670,17319787,17308087,17307836,17307805,17301259,17289874,17288454,17285126,17278098,15576832,15571962,15571721,15569676,15564800,15559734,15557806,15545966,15520196,15519522,15485898,15477862,15456891,15448696,15447980,15383404,15368961,15367553,15365993,15350310,15345110,15345109,15331870,15319244,15300854,15285306,15284715,15283579,15282296,15280342,15280188,15265971,15256476,15254237,15242757,15236312,15220350,15930334,15923272,15917310,15900600,15894690,15887246,15886201,15880530,15876585,15872055,15863145,15846789,15831101,15811849,15803127,15803125,15800311,15796958,15785095,15784178,15777502,15743496,15735739,15735702,15734957,15733268,15728167,15726604,15723343,15712267,15691805,15674350,15665273,15617999,15609132,15598764,15591272,15591126,15589605,14506230,14502648,13679996,12967657,12955716,12946038,12938098,12937835,12928470,12920090,12918074,12917330,12911837,12911720,12909625,12890688,12887909,12883740,12879478,12872263,12865453,12845657,12838555,12833555,12827452,12815604,12815598,12810625,12798717,12779088,12779087,12774040,12773400,12768436,12767038,12750242,12748281,12732733,15217508,14507240,12712470,12704636,12704633,12700228,12700125,12698198,12698194,12698193,12696073,12691152,15208681,15205325,15199145,15173085,15170666,15168169,15166217,15159397,15159322,15159312,15144764,15140371,15140370,15138485,15138483,15133503,15133502,15131403,15131401,15131400,15131025,15125843,15122325,15117986,15116316,15114373,15113441,15107825,15104281,15096610,15095307,15087457,15086724,15084244,15083174,15082902,16818604,16807675,16807234,16792513,16783967,16782705,16773440,16772120,16769276,16760289,16760288,16738949,16738325,16737811,16735508,16728435,16724273,16724249,16724247,16718381,16713569,16698035,16677609,16648044,16644204,16639601,16638864,16622123,16619214,16567799,16563180,16563154,15073127,15067026,15066328,15065664,15059511,15053073,15053071,15041722,15026808,15009718,14990569,14984481,14973102,14769635,14761918,14760071,14758382,14755459,14746861,14735581,14735173,14732925,14729053,14722926,14710355,14709740,14709734,14701743,14680495,14678969,14673037,14668548,14662532,14660588,14654792,14648706,14647443,14647430,14647419,14644329,14638690,14636569,14615451,14613551,14612409,14586320,14581427,14580256,14580253,14578343,14576434,14576433,14576432,14574155,14572939,14572152,14559807,14555511,14551306,14550570,14534301,14522380,14519755,14517958,14516936,16543242,16543155,16541324,16541315,16537453,16533773,16515589,16509964,16484695,16479151,16477874,16462151,16456781,16455195,16452482,16450717,16446310,16417649,16389418,16369438,16331614,16331276,16324400,16284991,16283620,16271956,16261409,16261400,16260778,16240122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1599502,734655,734657,734656,1599497,1578504,2293150,2293156,2293014,2293154,2293190,2293149,2293151,2293153,2293155,2293152 672 DQ190457,DQ299305,DQ299306,DQ299307,DQ299308,DQ299309,DQ299310,DQ299311,DQ299312,DQ299313,DQ299314,DQ299315,DQ299316,DQ299317,DQ299318,DQ299319,DQ299321,DQ299322,DQ299323,DQ299324,DQ299325,DQ299326,DQ299327,DQ299328,DQ299329,DQ299330,DQ299331,DQ478408,L78833,U15595,U37574,U61268,Y08757,AF005068,AF274503,AL701927,AY354539,AY751490,BC012577,NM_007297,NM_007298,NM_007302,NM_007305,NM_007303,NM_007300,NM_007299,NM_007294,NM_007304,NM_007296,NM_007295,AY273801,AY304547,AY706911,AY706912,CH471152,DQ116737,DQ145822,DQ145823,DQ145825,DQ145826,DQ190450,DQ190451,DQ190452,DQ190453,DQ190454,DQ190455,DQ190456,NG_005905,AC135721,AF284812,AF507076,AF507078,AY093484,AY093485,AY093486,AY093487,AY093489,AY093490,AY093492,AY093493,AY144588,BC038947,BC030969,BC046142,BC062429,BC072418,BC085615,BC106745,BC106746,BC114511,BC114562,BC115037,BU617173,U14680,U64805,U68041 ABA29226,ABA29229,ABB87053,ABB87054,ABB87055,ABB87056,ABB87057,ABB87058,ABB87059,ABB87060,ABB87061,ABB87062,ABB87063,ABB87064,ABB87065,ABB87066,ABB87067,ABB87069,ABB87070,ABB87071,ABB87072,ABB87073,ABB87074,ABB87075,ABB87076,ABB87077,ABB87078,ABB87079,ABF14462,AAC37594,AAC50330,AAB40910,CAA70003,AAB61673,AAQ92977,AAU93634,NP_009228,NP_009229,NP_009233,NP_009236,NP_009234,NP_009231,NP_009230,NP_009225,NP_009235,NP_009227,NP_009226,AAP12647,AAP70031,AAU21563,AAU21564,EAW60922,EAW60923,EAW60924,EAW60925,EAW60926,EAW60927,EAW60928,EAW60929,EAW60930,EAW60931,EAW60932,EAW60933,EAW60934,EAW60935,EAW60936,EAW60937,EAW60938,EAW60939,EAW60940,EAW60941,EAW60942,AAZ16492,AAZ79406,AAZ79407,AAN10167,AAZ79409,AAZ79410,ABA29208,ABA29211,ABA29214,ABA29217,ABA29220,ABA29223,AAF97939,AAN61423,AAN61425,AAM18218,AAM18219,AAM18220,AAM18221,AAM18222,AAM18223,AAM18225,AAM18226,AAH30969,AAH62429,AAH72418,AAH85615,AAI06746,AAI06747,AAI15038,AAA73985,AAC00049,AAB08105,O15129,P38398,Q05BZ9,Q1RMC1,Q3B890,Q3LRH8,Q3LRJ0,Q3LRJ6,Q3YB49,Q3YB50,Q3YB52,Q3YB53,Q4EW25,Q5U3B7,Q5XLT4,Q5YLB2,Q64FK2,Q64FK3,Q6IN79,Q6P671,Q7KYU6,Q7KYU9,Q7Z606,Q8IU58,Q8IZK2,Q8IZK4,Q92897,Q9NQR3,Q9UE29,Q3B891 Hs.194143 GDB:126611 BRCAI|BRCC1|IRIS|PSCP|RNF53 breast cancer 1 2292917,2292991,2292992 PRSTS128_H,PRSTS133_H,PRSTS123_H protein-coding 1606082 BRCA1P1 BRCA1 pseudogene 1 11880951,11179671,10205276,8954804,8700509 394269 NG_003183,AC060780,U77841 LBRCA1|PsiBRCA1|pseudo-BRCA1 pseudo 736254 BRCA2 breast cancer 2, early onset Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintainance of genome stability, specificallythe homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. 1580863,1599503,734658,1599505,2289049,2289050,2289042,2289044,2289045,2289046,2289048,2289043 17286961,9824164,9774970,10373512,11597317,12242698,15930293,15967112,16099937,16275750,17515903,9619837,16845393,8895509,16434996,12606939,9560268,8589722,18489799,18483851,18481196,18463975,18451254,18439109,18437078,18434071,18431743,18431737,18431501,18429825,18413372,18402691,18393245,18380995,18377429,18375895,18355772,18312450,18307534,18288416,18286383,18284688,18279628,18270339,18258506,18257128,18256760,18214034,18204050,17471561,17470134,17453335,17445839,17428325,17428320,17426707,17416853,17413421,17409195,17397054,17386038,17380889,17341484,17333477,17333343,17333342,17333338,17324252,17307836,17301269,17289875,17289874,17285126,17262179,17257844,17250666,17217814,17216544,17210933,17196508,17160431,17151928,17148771,17145825,17145824,17119064,17113724,17101782,17100994,17080309,17063270,17063265,17061047,17021353,17020472,17018785,17018160,17010055,17000754,16998791,16998498,16998496,16956909,16950820,16949048,16944270,16931905,16914443,16912212,16905680,16886281,16860930,16847550,16843109,16826315,16825431,16793542,16792514,16792513,16783967,16769276,16768547,16764716,16760289,16754685,16741161,16731627,16728435,16724273,16724247,16701105,16648044,16644204,16638864,16622123,16621732,16619214,16574953,18200524,18182994,18182601,18178637,18176857,18175216,18175183,18172292,18172190,18167127,18165636,18158280,18098285,18097605,18095987,18095154,18092194,18086758,18045956,18042939,18036394,18034184,18026875,18024013,17999359,17997147,17977515,17972177,17972172,17968145,17952592,17945002,17940634,17925560,17924331,17922257,17917796,17898070,17851763,17850627,17767707,17761984,17724471,17700570,17688236,17686574,17686308,17683622,17673924,17664283,17640379,17636424,17636423,17635951,17634561,17627006,17625228,17625123,17624602,17603881,17603793,17592676,17591843,17591842,17582599,17565157,17549502,17541404,17515904,17503080,17497966,14761918,14755459,14752193,14746861,14735581,14735173,14732925,14722926,14709740,14709734,14680495,14678969,14673037,14670928,14668548,14662532,14660434,14651845,14648706,14647438,14647419,14647210,14636569,14615451,14586320,14581427,14580256,14580253,14576434,14574155,14572939,14555518,14555511,14519755,14517958,14507240,12967657,12946038,12942367,12938098,12937835,12927042,12920090,12917199,12911837,12911720,12883740,12879478,12865453,12845657,12833555,12815053,12798717,12779088,12774040,12771943,12756300,12712470,12704633,12698193,12691152,12684407,12677558,12673354,12672886,12670525,12655567,12655560,12644778,12644538,12619154,12618335,12611452,12569143,12568865,12567413,12556369,12552570,12543786,16563180,16541324,16539696,16537453,16485136,16484695,16456781,16455195,16450717,16419081,16418514,16417627,16389418,16369438,16331614,16324400,16284991,16280055,16271956,16261408,16261400,16257105,16234515,16214912,16199546,16176503,16168130,16168123,16168118,16140006,16137751,16118051,16088935,16049805,16047333,16042582,16032702,16030099,16029503,16003728,15996267,15994883,15986445,15983021,15978801,15937124,15936476,15930334,12527904,12504628,12496047,12491828,12485194,12484126,12477932,12476445,12474142,12473589,12471628,12470990,12464649,12461697,12459499,12457999,12453858,12442275,12442274,12442273,12442171,12440810,12433008,12431973,12404104,12385017,12376518,12376208,12373604,12237897,12237285,12229876,12229875,12228710,12220452,12215251,12210341,12181777,12165866,15917310,15900600,15894703,15887246,15880530,15863145,15806175,15805113,15800615,15800311,15734957,15734731,15733268,15728167,15726604,15721786,15671039,15670748,15635067,15617999,15589605,15576832,15571962,15564800,15559734,15548363,15545966,15519522,15375219,15367553,15365993,15345109,15331870,15319244,15317758,15314155,15284715,15280342,15280188,15265971,15254695,15236312,15217508,15199141,15170666,15168169,15159322,15144764,15140371,15140370,15138485,15138483,15131403,15131400,15131399,15131025,15117986,15116316,15115758,15114373,15104281,15095307,15086724,15084244,15083174,15082902,15073127,15070707,15067026,15059511,15057823,15053073,15053071,15041722,15026808,15015609,14984481,14973102,14769635,12145750,12125210,12114473,12112655,12101561,12100744,12088120,12070551,12065746,12039933,12036913,12023992,12020440,11983207,11981002,11977534,11972384,11964925,11953874,11950811,11948477,11927503,11920621,11920551,11897832,11896095,11890937,11883440,11879560,11873550,11870509,11870168,11857749,11857748,11857383,11857015,11844822,11822793,11807889,11807777,11802209,11802208,11793480,11788883,11786581,11786575,11754111,11710890,11698567,11668223,11602572,11584901,11562929,11556836,11550168,11535547,11505617,11504767,11493753,11481082,11477095,11474660,11466700,11448436,11437399,11433401,11426450,11410514,11403219,11377596,11343905,11313963,11263938,11248061,11239453,11221880,11207365,11207041,11207040,11192759,11181654,11180449,11170288,11158174,11149425,11139248,11130383,11097234,11073541,11063672,11062481,11044354,11039575,10807692,10749118,10570174,10486320,10323242,9971877,9811893,9654203,9609997,9150155,9150152,9126738,8917547,8841191,8673091,8673090,8665505,8640237,8640236,8640235,8589730,8524414,8091231,7597059,7581463,1072445,12032298,15065660,14580352,12408834,9523196,9405383,14647413,12915460,14499622,10608806 1599503,734658,1599505,2289049,2289050,2289042,2289044,2289045,2289046,2289048,2289043 675 AL137247,AL445212,AY008850,AY008851,AY151039,AY436640,CH471075,X95152,Z73359,Z74739,BC026160,BC047568,DQ897648,U43746,AF489737,AF489738,AF507079,AF507080,AF507081,AF507082,AF507083,AF507084,AF507085,AF507086,AF507087,AF507088,AF507089,AF507090,AF489736,AF309413,AF348515,AF489725,AF489726,AF489727,AF489728,AF489729,AF489730,AF489731,AF489732,AF489733,AF489734,AF489735,NM_000059 CAI13195,CAI40479,AAG32681,AAG32682,AAN28944,AAQ97181,EAX08499,EAX08500,EAX08501,CAA64484,CAA97728,CAA98995,ABI74674,AAB07223,P51587,Q5TBJ7,Q8IU64,Q8IU77,Q8IU82,Q9BX99,Q9H265,Q9H4L2,Q9H4L3,AAN61420,AAN61421,AAN61422,AAN61426,AAN61427,AAN61428,AAN61429,AAN61430,AAN61431,AAN61432,AAN61433,AAN61434,AAN61435,AAN61436,AAN61437,NP_000050,AAG46030,AAK29432,AAN61409,AAN61410,AAN61411,AAN61412,AAN61413,AAN61414,AAN61415,AAN61416,AAN61417,AAN61418,AAN61419 Hs.34012 GDB:387848 BRCC2|FACD|FAD|FAD1|FANCB|FANCD|FANCD1 breast cancer 2 protein-coding 1352713 BRCA3 breast cancer 3 10944226,11792833 60500 GDB:10013811 1344323 BRCC3 BRCA1/BRCA2-containing complex, subunit 3 This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This protein is also thought to be involved in the cellular response to ionizing radiation and progression through the G2/M checkpoint. Alternative splicing results in multiple transcript variants. 14636569,18077395,17143545,16381901,16189514,15489336,15489334,14737182,12477932,11076863,8247530,1303175,17353931 79184 CH471172,AY438030,BC002999,BC006540,BU902387,CR615605,S68015,X64643,NM_024332,NM_001018055,NG_005114,BX293995,BX470111 CAO03576,EAW72632,EAW72633,EAW72634,EAW72635,EAW72636,EAW72637,AAR30498,AAH02999,AAH06540,AAB29005,CAA45917,P46736,Q5TZ92,Q5TZ93,CAL37707,NP_077308,NP_001018065,CAI41654,CAI41655,CAO03573,CAO03574,CAO03575 Hs.558537 BRCC36|C6.1A|CXorf53|RP11-143H17.2 protein-coding 1604470 BRCTD1 BRCT domain containing 1 15632077,12477932,11230166 345499 AL050298,BC054885,BC070332,BC107571 CAB43397,AAH54885,AAH70332,AAI07572,Q3B7K4,Q6NSA5,Q6PHW9,Q9Y402 Hs.657315 BRCTx|DKFZp564C0469 protein-coding 1323531 BRD1 bromodomain containing 1 This gene encodes a protein of unknown function. The protein contains a bromodomain, a sequence motif often found in transcriptional coactivators, and localizes to the nucleus in testis and several other cell types. 1580863 10602503,17081983,15461802,12477932,10591208,1350857 23774 NM_014577,CH471138,Z98885,AB209216,AF005067,AK292428,AL049402,AL080149,BC030007,BC047508,CR456408,CR610367,CR936643 NP_055392,EAW73473,EAW73474,EAW73475,EAW73476,EAW73477,CAB11574,BAD92453,AAF34320,BAF85117,CAH56423,CAB45742,AAH30007,AAH47508,CAG30294,O95696,Q59G93,Q5CZ83,Q659H0,Q86X06,Q9Y4Q3,CAI56783,CAK54399,CAK54698 Hs.127950 GDB:10795296 BRL|BRPF1|BRPF2|DKFZp686F0325 protein-coding 1350574 BRD2 bromodomain containing 2 This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene, but the full-length nature of some of these variants has not been determined. 1358444,1580863 9693039,18406326,17999746,17848202,17148447,17081983,16940503,16786191,16516380,16512664,16344560,15489334,15342556,15302935,14731392,14702039,14574404,12830434,12600283,12477932,12366783,12145330,11502199,10965846,10934046,9373153,8781126,8595877,1663500,1352711,1350857,15949438 1358444 6046 NM_001113182,AF107699,AL645941,AL662845,AL805913,AL935042,BX005422,CH471081,CR759829,X96670,NM_005104,Z84497,AI983495,AK056504,AL832722,BC000477,BC001885,BC007715,BC063840,BP271262,BX647233,BX648109,CR620442,D42040,DA127395,DA505721,DC379337,H11588,M80613,S78771,X62083 NP_005095,NP_001106653,AAD24963,CAI18110,CAI17492,CAI18548,CAI18689,EAX03662,EAX03663,EAX03664,EAX03665,EAX03666,CAP58468,CAP58469,CAA65450,CAH56208,AAH63840,CAH56179,CAH56171,BAA07641,AAA68890,CAA43996,P25440,Q63HQ9,Q658Y7,Q9UNM9 Hs.75243 GDB:9959024 D6S113E|DKFZp686N0336|FLJ31942|FSH|FSRG1|KIAA9001|NAT|RING3|RNF3 protein-coding 1318974 BRD3 bromodomain containing 3 This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. 1580863 18406326,17934517,17081983,16008511,15489334,15302935,15164053,12600283,12477932,12371535,9373153,8781126,7584044 8019 NM_007371,AC000391,AC002105,AC002323,AL445931,AL591386,CH471090,Z81330,AW409970,AY513270,BC010699,BC032124,D26362 NP_031397,CAI13726,CAI13727,CAP58862,CAP58863,EAW88113,EAW88114,EAW88115,AAS82952,AAH32124,BAA05393,Q15059,Q4G5Y3,Q5T1R6 Hs.522472 GDB:9784424 KIAA0043|ORFX|RING3L protein-coding 1316385 BRD4 bromodomain containing 4 The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. 1580863 16611886,15994877,15795266,15456879,15302935,15231748,15109495,15057824,12543779,12477932,12192049,11733348,10938129,18039861,17934517,17690245,17686863,17626100,17189190,17081983,17023018,16940503,16921027 23476 NM_058243,NM_014299,AC003111,AC004798,CH471106,AF386649,BC000156,BC008354,BC030158,BC035266,BC038988,BC047888,BC067129,BC091649,Y12059 NP_490597,NP_055114,AAC27978,EAW84469,EAW84470,EAW84471,EAW84472,EAW84473,AAL26987,AAH00156,AAH08354,AAH30158,AAH35266,AAH38988,AAH47888,AAH67129,AAH91649,CAA72780,O60885,Q05BM2,Q4G0X8,Q5BJ26,Q6NXE4,Q6PIS5,Q96HN0 Hs.187763 GDB:9956611 CAP|HUNK1|HUNKI|MCAP protein-coding 1320478 BRD7 bromodomain containing 7 12489984,11025449,10526152,17081983,16792505,16786191,16475162,16265664,15489334,15137061,14702039,12918109,12766061,12600283,12477932,12941796,15383276 29117 Q9NPI1 AK027308,AK074613,BC001611,BC050728,BC094706,CD677718,CR593793,NM_013263,AC007493,AC007597,AC023826,CH471092,AF152604,AF213969,AJ271881 CAB72445,BAB55031,BAC11089,AAH01611,AAH50728,AAH94706,Q9NPI1,NP_037395,EAW82756,EAW82757,EAW82758,EAW82759,AAF75126,AAF19526 Hs.437894 GDB:11508557 BP75|CELTIX1|NAG4 protein-coding 1343686 BRD7P bromodomain containing 7 pseudogene 256109 NG_002469,AL160237 pseudo 1626549 BRD7P2 bromodomain containing 7 pseudogene 2 647076 XR_017374,XR_039198,XR_015764 pseudo 1626540 BRD7P3 bromodomain containing 7 pseudogene 3 10526152 23629 AF167351 AAD46658 Hs.648050 BP75 pseudo 1315939 BRD8 bromodomain containing 8 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Three alternatively spliced transcript variants that encode distinct isoforms have been identified. 9368056,8611617,17081983,16964243,16571680,15647280,15489334,15302935,15196461,14966270,12963728,12477932,11230166,11161817,10517671,9373149,8125298,16189514,15949438 10902 NM_139199,NM_006696,NM_183359,AC109442,AC113382,CH471062,AB209079,AF016270,AK225928,AK289951,AL136823,BC008039,BC008076,BU187982,CR595657,X87613,X94234 NP_631938,NP_006687,NP_899203,EAW62159,EAW62160,EAW62161,EAW62162,BAD92316,AAB87858,BAF82640,CAB66757,AAH08039,AAH08076,CAA60949,CAA63925,Q9H0E9 Hs.519337 SMAP|SMAP2|p120 protein-coding 1316511 BRD9 bromodomain containing 9 737633 15489334,14702039,12975309,12601173,12477932 737633 65980 NM_001009877,AC122719,CH471102,AK023503,AK024392,AK026830,AL833925,AY211916,NM_023924,AY358630,BC007217,BC041590,BX648703,DQ248311 NP_076413,NP_001009877,EAX08187,EAX08188,EAX08189,EAX08190,EAX08191,EAX08192,EAX08193,BAB14591,BAB14907,BAB15565,CAD38781,AAO65169,AAQ88993,AAH41590,ABB55266,Q86WF2,Q8NDF4,Q9H8M2,ABZ92051 Hs.449278 DKFZp434D0711|DKFZp686L0539|LAVS3040|PRO9856 protein-coding 1315431 BRDT bromodomain, testis-specific BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Two transcript variants encoding the same protein have been found for this gene. 9367677,10365964,15647849,15489334,12861021,12477932,11076863,10704737 676 NM_207189,NM_001726,AC114486,CH471097,AF019085,AY338951,BC005281,BC017582,BC028126,BC038844,BC047900,BC062700,BG717291,BX648135,DC401352 NP_997072,NP_001717,EAW73106,EAW73107,EAW73108,EAW73109,EAW73110,EAW73111,AAB87862,AAQ16198,AAH05281,AAH17582,AAH47900,AAH62700,Q05DQ4,Q58F21,AAI11928,AAI18499 Hs.482520 GDB:6775239 BRD6 protein-coding 1343026 BRE brain and reproductive organ-expressed (TNFRSF1A modulator) 1580863 11676476,14636569,15465831,7826398,9737713,17704801,16713569,16189514,15582573,15489334,14702039,12477932,11259452,17353931 9577 NM_199193,NM_199194,NM_199192,NM_004899,NM_199191,AC021171,AC093690,AC096552,AC104695,CH471053,AF015767,AF420602,AF420603,AF420604,AF420605,AK000097,AK123076,AK291086,AL566299,AY438031,BC001251,BG422104,BG422293,BI559404,BU172408,CR594132,CR606988,L38616,BC014088 NP_954663,NP_954664,NP_954662,NP_004890,NP_954661,AAY24156,AAX88935,EAX00542,EAX00543,EAX00544,EAX00545,EAX00546,EAX00547,EAX00548,AAB69387,AAL17814,AAL17816,AAL17817,AAL17818,BAA90943,BAC85532,BAF83775,AAR30499,AAH01251,AAA64231,Q4ZFX8,Q53SD0,Q6ZWH1,Q969X9,Q9NXR7,ABM82190,ABM85377 Hs.11916,Hs.258314 GDB:9957401 BRCC4|BRCC45 protein-coding 2292094 BREA2 breast cancer estrogen-induced apoptosis 2 12477932 286076 XR_040174,XR_040172,XR_040173,AC105219,CH471162,AL833948,AY940073,BC132838,BC132840 EAW82209,CAD38802,Q8NDL7 Hs.178095 miscrna 1322467 BRF1 BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Two alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. Other transcript variants are possible, but their full-length natures have not been completely characterized. 1580863 8943358,7624363,18326031,17968325,17877750,17499043,17369404,17081983,16982688,16713569,15538381,15489334,14702039,12711686,12477932,12198173,12066800,12016223,11997511,10921893,10523658,10373544,10330166,9171375,9169441,8943363,16189514 2972 NM_001519,AL512355,CH471061,AJ297406,AJ297407,AJ297408,AK096471,AK124665,AK125024,AL540823,BC016743,BC071637,BC086856,NM_145685,BC103859,BC103860,BC103861,BC133655,CR607892,U28838,U75276 NP_663718,NP_001510,EAW81906,EAW81907,EAW81908,EAW81909,EAW81910,EAW81911,EAW81912,CAC04512,CAC04513,CAC04514,BAC86024,AAH16743,AAH71637,AAH86856,AAI03860,AAI03861,AAI03862,AAI33656,AAC50170,AAB38876,Q3SYD7,Q3SYD8,Q3SYD9,Q6ZV39,Q92994,Q96KX3 Hs.424484 GDB:1327246 BRF|FLJ42674|FLJ43034|GTF3B|MGC105048|TAF3B2|TAF3C|TAFIII90|TF3B90|TFIIIB90|hBRF protein-coding 1318806 BRF2 BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. 1580863 17353931,16227591,14702039,12621023,12477932,11564744,11483580,11121026,11040218,10330166 55290 NM_018310,AC130304,AC138356,CH471080,AF130058,AF206673,AF298153,AK001914,BC010648,CR591369,CR602291,CR604537,CR607467,CR613791,CR614939,CR616155 NP_060780,EAW63351,EAW63352,EAW63353,AAG35486,AAG35669,AAG30222,BAA91975,AAH10648,Q9HAW0,ABZ92043 Hs.709301 GDB:11508907 BRFU|FLJ11052|TFIIIB50 protein-coding 1319388 BRI3 brain protein I3 1580863 16508092,15489334,14592447,12477932,11860200,9847074,8076819 25798 NM_015379,AC091654,AC093169,CH236956,CH471091,AB055977,AF041430,AF106966,BC018737,BC062370,BQ018487,CB054862,CB528682 NP_056194,EAW76713,EAW76714,EAW76715,BAB32785,AAF18565,AAD05167,AAH18737,AAH62370,O95415 Hs.567438 GDB:10796017 I3 protein-coding 1348808 BRI3BP BRI3 binding protein 1580863 15489334,14702039,12477932,11860200,17765869 140707 NM_080626,AC093719,AC122688,CH471054,AF283671,AF284094,AF441865,AK055703,BC034525,CA488612 NP_542193,EAW98470,EAW98471,AAL33003,AAL54382,AAN76689,AAH34525,Q8IX35,Q8WY22 Hs.632740 GDB:11504124 BNAS1|HCCR-2|KG19 protein-coding 1626266 BRI3P1 brain protein I3 pseudogene 1 730010 XR_016066,XR_038259,XR_015539 pseudo 1626269 BRI3P2 brain protein I3 pseudogene 2 441630 XR_017103,XR_019372 Hs.646559 pseudo 1316979 BRIP1 BRCA1 interacting protein C-terminal helicase 1 The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. 1580863,1600525 11301010,15878853,14576433,14504288,18483852,18414782,18270339,17596542,17581638,17557904,17342202,17033622,16485136,16153896,16116424,16116423,16116421,15489334,15302935,15133502,15125843,15113441,14983014,14702039,12872252,12565990,12477932,11920628,11595410,15242590,15208681,14578343,11877378,10669750 1600525 83990 NM_032043,NG_007409,AC002994,AC005969,AC060798,CH471179,AF360549,AK074713,BC101472,BC101474 NP_114432,EAW51430,EAW51431,EAW51432,EAW51433,AAK38111,BAC11156,AAI01473,AAI01475,Q9BX63 Hs.532799 BACH1|FANCJ|FLJ90232|MGC126521|MGC126523|OF protein-coding 1322310 BRMS1 breast cancer metastasis suppressor 1 This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. 1580863,2289400 16919237,18276787,18211900,17896182,17854218,17227585,15867352,15705865,15592684,15489334,15451426,15168732,14581478,12650606,12477932,12414911,11822878,11774238,10850410,8889548 2289400 25855 NM_001024957,AF281036,AP001107,CH471076,AF147350,AF159141,AI797564,AL050008,BC009834,BM312965,BU734281,CB130346,CB529276,CR457173,CR599820,CR617084,CR617683,CR618839,CR620200,CR620223,NM_015399 NP_056214,NP_001020128,AAK69131,EAW74513,EAW74514,EAW74515,EAW74516,AAG00075,CAB43235,AAH09834,CAG33454,Q6IAI2,Q9HCU9,Q9Y3T1 Hs.100426 DKFZp564A063 protein-coding 1314372 BRMS1L breast cancer metastasis-suppressor 1-like The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). 15451426,14702039,12477932 84312 NM_032352,AL162311,CH471078,AA836514,AK096496,AY827074,BC006250,BU507838,CR595618,CR612796 NP_115728,EAW65867,AAV83797,AAH06250,Q5PSV4 Hs.525299 BRMS1|MGC11296 protein-coding 1604029 BRP44 brain protein 44 16710414,16381901,15489336,15489334,12477932,11256614,11230166,11076863,3022128 25874 NM_015415,CH471067,Z97876,AK290126,AL035304,AL110297,BC104157,BC104158,CR407632,CR533473,CR594136,CR607153,CR615341,CR622477,CR626165 NP_056230,EAW90813,EAW90814,EAW90815,EAW90816,CAI20075,CAI20076,BAF82815,CAA22909,CAB53738,AAI04158,AAI04159,CAG28560,CAG38504,O95563,Q5R3B4,CAL37963 Hs.517768 DKFZP564B167|MGC125752|MGC125753 protein-coding 1352706 BRP44L brain protein 44-like 17672918,15489334,12477932,11252172,11042152,10810093 51660 AL022069,CH471051,AF125101,AF151887,AF275811,BC000810,CR591621,CR618688,CR621401,NM_016098 NP_057182,CAI19654,CAI19655,EAW47527,EAW47528,EAW47529,EAW47530,EAW47531,AAD39918,AAD34124,AAG23822,AAH00810,Q5TI65,Q5TI66,Q9Y5U8 Hs.172755 CGI-129|dJ68L15.3 protein-coding 1316705 BRPF1 bromodomain and PHD finger containing, 1 The protein encoded by this gene is expressed ubiquitously and at the highest level in testes and spermatogonia. The protein is localized within nuclei, and it is very similar in structure to two zinc finger proteins, AF10 and AF17. It is suggested that these proteins form a family of regulatory proteins. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 7906940,17081983,15302935,12477932,8946209 7862 NM_001003694,AF176815,CH471055,NM_004634,AC022382,AI356310,AL713696,BC036374,BC053851,BC068262,BG704575,M91585 AAF19605,EAW63972,NP_001003694,NP_004625,EAW63973,EAW63974,EAW63975,EAW63976,CAD28495,AAH53851,AAB02119,P55201,Q7Z6E0,Q8TCM6 Hs.1004 GDB:9955745 BR140 protein-coding 1315730 BRPF3 bromodomain and PHD finger containing, 3 1580863 14574404,12477932,10574462 27154 NM_015695,CH471081,Z84485,AB033112,AK000751,AK025134,AK025224,AK074362,AK123574,AK172787,BC033652,BC039615,BC117387 NP_056510,EAX03877,EAX03878,EAX03879,EAX03880,EAX03881,EAX03882,CAI21669,BAA86600,BAA91359,BAB85060,AAH33652,AAI17388,Q17RB6,Q8N4T7,Q8TE92,Q9NWM1,Q9ULD4 Hs.520096 GDB:11505692 protein-coding 733512 BRS3 bombesin-like receptor 3 Mammalian bombesin-like peptides (see MIM 137260) are widely distributed in the central nervous system as well as in the gastrointestinal tract, where they modulate smooth-muscle contraction, exocrine and endocrine processes, metabolism, and behavior. They bind to G protein-coupled receptors on the cell surface to elicit their effects. Bombesin-like peptide receptors include gastrin-releasing peptide receptor (MIM 305670), neuromedin B receptor (MIM 162341), and bombesin-like receptor-3 (BRS3) (Ohki-Hamazaki et al., 1997).[supplied by OMIM] 734661,1580863 8383682,9367152,17714959,17355223,16979789,15772651,12102638,9593699,8822519,8131855 734661 680 NM_001727,AF117712,CH471150,X76498,Z97632,AY585193,L08893 NP_001718,AAD21615,EAW88470,CAA54031,CAB10731,AAT79496,AAA35604,P32247,Q9UQK4,AAI52939 Hs.121484 GDB:138468 protein-coding 1353238 BRSK1 BR serine/threonine kinase 1 1580863 15150265,14976552,16630837,15489334,12477932,11347906 84446 NM_032430,AC008974,AC020922,CH471135,AB058714,AF479826,AF479827,AK124999,AL831945,AL834275,AY458602,AY505124,BC016681 NP_115806,EAW72359,EAW72360,EAW72361,BAB47440,AAL87697,AAL87698,CAD38595,CAD38950,AAS10354,AAS86442,AAH16681,Q8TDC3 Hs.182081 FLJ43009|KIAA1811 protein-coding 1345228 BRSK2 BR serine/threonine kinase 2 14976552,16870137,16630837,16165222,15489334,15150265,14702039,12477932,11124703,9929968,9852686 9024 AC091196,AC136297,CH471158,AF020089,AF533876,AF533877,AF533878,AF533879,AF533880,AJ006701,AK074411,AK122851,AK123356,AK131534,AY166857,AY505125,BC017182,BC024291,BG395884,DR001379,NM_003957 NP_003948,EAX02436,EAX02437,EAX02438,EAX02439,EAX02440,EAX02441,EAX02442,EAX02443,EAX02444,AAD09654,AAP97723,AAP97724,AAP97725,AAP97726,AAP97727,CAA07196,BAC85593,BAD18671,AAN87839,AAS86443,AAH24291,Q6ZWB1,Q8IWQ3,AAI52770 Hs.170819 GDB:9954778 C11orf7|FLJ41362|PEN11B|SAD1|STK29 protein-coding 1316936 BRUNOL4 bruno-like 4, RNA binding protein (Drosophila) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10893231,17672918,15894795,14973222,14702039,12477932,12107411,11984006,11158314,8889548 56853 NM_001025087,NM_001025088,NM_001025089,AC015961,AC090386,AC093332,AC129908,CH471088,AA669357,AB209774,AF141345,AF248650,NM_020180,AF248651,AF329265,AK074596,AK091694,AK126716,BC001946,BC004167,BC045711,BC127795,BF592968,BM671360,BM718619,BQ637723 NP_064565,NP_001020258,NP_001020259,NP_001020260,EAX01394,EAX01395,EAX01396,EAX01397,BAD93011,AAG49448,AAF86232,AAF86233,AAK07475,BAC11082,BAC03723,BAC86656,AAH01946,AAH04167,AAH45711,AAI27796,Q6ZTD5,Q8NB21,Q9BZC1,Q9C059 Hs.435976,Hs.600908 GDB:11500595 BRUNOL-4|CELF4 protein-coding 1345217 BRUNOL5 bruno-like 5, RNA binding protein (Drosophila) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. 1580863 12477932,11158314,10893231 60680 NM_021938,AC005331,AC006505,AC010649,AC123911,AL390161,CH471139,AB209067,AF248649,AF329266,AL832550,BC028101,BC047522 NP_068757,AAC27666,EAW69327,EAW69328,BAD92304,AAF86231,AAK07476,AAH28101,AAH47522,Q8N6W0,ABM82574,ABM85763 Hs.655747 GDB:11500596 BRUNOL-5|CELF5 protein-coding 1321359 BRUNOL6 bruno-like 6, RNA binding protein (Drosophila) Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. 1580863 14761971,12477932,12107410,10893231,8889548 60677 NM_052840,AC009690,CH471082,AF401233,AF425606,AK124858,AK131098,BC030835,BC033838,BM930660,CA393931 NP_443072,EAW77900,EAW77901,AAK95615,AAL34513,BAC85148,AAH30835,AAH33838,Q59FM6,Q96J87 Hs.348342 GDB:11500597 CELF6 protein-coding 1345101 BRWD1 bromodomain and WD repeat domain containing 1 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats, and the function of this protein is not known. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates 3 transcript variants diverging at the 3' ends. 16780588,14702039,12889071,12477932,12359327,10830953,9480850,8889548 54014 AJ238573,AJ292465,AJ292466,AK002177,AK125906,AL109785,AL109786,AL162036,AL558272,BC031545,BC047058,BC064602,BC142986,BI914338,BQ930702,CA503340,CR593840,CR612626,AJ238556,AJ238555,NM_018963,NM_033656,NM_001007246,AF064861,AF129408,AL163279,CH471079,AA807344,AB080586,AB080587,AB080588,AB080589,AB080590,AB080591,AB080592,AB080593,AI307266,AJ002572,AJ002574,AJ222636,AJ238214 CAC44371,CAC44372,BAA92123,AAH64602,AAI42987,Q5R2U4,Q5R2U5,Q5R2U6,Q5R2U7,Q5R2U8,Q5R2U9,Q6P2D1,Q9NSI6,AAI40080,CAC37033,NP_061836,NP_387505,NP_001007247,CAB90452,EAX09657,EAX09658,EAX09659,EAX09660,EAX09661,BAD74071,BAD74072,BAD74073,BAD74074,BAD74075,BAD74076,BAD74077,BAD74078,CAA10896 Hs.654740 GDB:10796464 C21orf107|FLJ43918|N143|WDR9 wd repeat domain 9 protein-coding 1318273 BRWD2 bromodomain and WD repeat domain containing 2 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. 1580863 15489334,15164054,14702039,12684693,12684685,12477932,11536051,10718198 55717 NM_018117,AC010998,AL391425,CH471066,AB037772,AF320223,AK000579,AK001368,AK025050,AK124522,AL137699,BC040469,BC071564,BI912281,CR591774 NP_060587,CAH72488,EAW49363,EAW49364,EAW49365,EAW49366,BAA92589,AAK08064,BAA91269,BAA91652,BAC85874,CAH56385,AAH40469,AAH71564,Q659C9,Q6ZVI7,Q9BZH6,Q9NVU3,Q9NWV7,Q9P2J6 Hs.144447 GDB:11499060 DKFZp434L1715|DR11|FLJ42531|WDR11|WDR15 protein-coding 1354337 BRWD3 bromodomain and WD repeat domain containing 3 17668385,17081983,16094372,15772651,15543602,15489334,14702039,12477932 254065 NM_153252,AL512504,AL590031,AL669934,AK095887,AY497046,AY497047,AY497048,AY497049,AY497050,AY497051,AY497052,AY497053,AY497054,AY497055,AY497056,AY497057,AY497058,AY497059,AY497060,BC039508,BC111490,BI825932,CB269573 NP_694984,BAC04641,AAS45471,AAS45472,AAS45473,AAS45474,AAS45475,AAS45476,AAS45477,AAS45478,AAS45479,AAS45480,AAS45481,AAS45482,AAS45483,AAS45484,AAS45485,AAI11491,Q6RI45 Hs.170667 BRODL|FLJ38568|MRX93 protein-coding 1317732 BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin) 1600600,1600602,1600601,1580863 14981520,18250201,18155601,18093937,17663003,17535271,17486577,17420921,17387721,16435205,16427281,16341674,15732094,15489334,15181077,15126564,14702039,14602785,12477932,11479539,11389484,9373149,9110174,8619474,8125298,16189514 1600600,1600602,1600601 26580 NM_001122955,AP001458,CH471076,CQ783924,CS072299,AF052149,AK027524,AK075317,AK223606,AK225029,BC004911,BC009866,BC012140,BC041640,BC093048,NM_032667,BM763152,CD107822,CR590725,CR591088,CR591779,CR599907,CR601079,CR602177,CR603960,CR609599,CR609654,CR613569,CR613731,CR614623,CR616136,CR617488,CR618858,CR620589,CR621335,CR625078 NP_116056,NP_001116427,EAW74070,EAW74074,EAW74075,EAW74080,EAW74081,CAF86927,CAI93437,BAB55175,BAC11543,BAD97326,AAH04911,AAH09866,AAH12140,AAH41640,AAH93048,Q53EN3,Q567S1,Q96G97,ABM84409,ABW03570 Hs.533709 GDB:9963996 GNG3LG|HMN5|MGC4694|SPG17 protein-coding 1605672 BSDC1 BSD domain containing 1 16710414,15489334,14702039,12975309,12477932,9373149,8125298 55108 NM_018045,AL109945,CH471059,AK001138,AK021440,AK225026,AK225717,BC010573,BC026322,BC028381,BX641056,CR457252,CR749228 NP_060515,CAI22889,CAI22890,EAX07525,EAX07526,EAX07527,EAX07528,EAX07529,EAX07530,BAA91517,BAB13825,AAH26322,AAH28381,CAE46029,CAG33533,CAH18084,Q5TEE7,Q9NW68 Hs.353454 DKFZp686B09139|FLJ10276|RP4-811H24.7 protein-coding 10249 BSG basigin (Ok blood group) The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. 734663,734662,1580863,2289051,2289053,2289063,2289052,2289054,2289055,2289059 17353931,9767135,14707126,15946952,10880960,11943775,18223224,18160808,18160397,18048771,18035727,17965264,17962725,17725804,17589939,17579119,17460779,17444954,17441962,17267690,17209789,17145878,17127621,17088917,17081983,17081065,17050542,16911716,16824781,16778084,16771728,16721788,16633062,16627983,16507143,16461815,16443928,16425263,16396496,16339461,16310185,16207318,16189514,15904490,15890777,15833850,15831673,15823273,15770719,15711733,15671024,15632013,15489334,15340161,15201341,15181074,15161697,15057824,14985463,14749763,14729463,14702039,14671212,12975309,12939332,12925876,12902469,12898514,12792908,12754519,12692261,12553375,12526080,12477932,12174874,12173047,12117738,11992541,11688976,10921872,10706100,9360995,9130641,8752667,8404035,7812975,2032306,1846736,1783610,1634773 734663,734662,2289051,2289053,2289063,2289052,2289054,2289055,2289059 682 NM_198591,NM_001728,NM_198589,NG_007468,AC005559,AC009005,AF042854,AY942196,CH471242,AB072923,AB085790,AB091680,AF548371,NM_198590,AK095912,AY358113,BC009040,BG480530,BI464857,BU501595,CB153773,CR591697,CR591998,CR592900,CR595656,CR595925,CR596692,CR597284,CR597832,CR600626,CR601862,CR602687,CR603442,CR609558,CR609700,CR611405,CR611864,CR611929,CR614422,CR615555,CR616379,CR619238,CR619245,CR622629,CR623986,CR626008,D45131,L10240,L20471,M87879,X64364 NP_940992,NP_940993,NP_001719,NP_940991,AAC33279,AAD10704,AAX20110,EAW61180,EAW61181,EAW61182,EAW61183,EAW61184,EAW61185,EAW61186,EAW61187,BAB88938,BAC76828,BAC67168,AAN40694,AAQ88480,AAH09040,BAA08109,AAA68936,AAB41120,AAA91084,CAA45716,P35613,Q54A51 Hs.591382 GDB:228978 5F7|CD147|EMMPRIN|M6|OK|TCSF basigin protein-coding 735544 BSN bassoon (presynaptic cytomatrix protein) Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. 1580863 10329005,9806829,12628169,12477932,9679147,9455477,14734538 8927 NM_003458,AC099668,AC104452,CH471055,Y18448,Y18449,Y18450,Y18451,Y18452,AB007894,AF052224,AW131629,BC110587 NP_003449,EAW64992,EAW64993,CAA77176,BAA23707,AAC83555,Q2NLD2,Q2NLD3,Q9UPA5 Hs.194684,Hs.696391 GDB:9863289 ZNF231 protein-coding 1346772 BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin) This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. 1600603,1580863 18094726,17954364,17652939,17510212,16849430,16773427,16572343,15496163,15489334,12761627,12574213,12477932,12111250,11734858,11687798 1600603 7809 NM_057176,AL589790,AL590440,CH471059,AK129999,AY034632,BC069510,BC103898,BC103899,BC103900 NP_476517,CAH70360,EAX06661,AAK57750,AAI03899,AAI03900,AAI03901,Q5VU50,Q8WZ55 Hs.151291 GDB:9955569 BART|MGC119283|MGC119284|MGC119285 protein-coding 1347567 BSPRY B-box and SPRY domain containing 15489334,15164053,14702039,12615066,12477932,11099500,10978534 54836 NM_017688,AL137066,CH471090,AJ276691,AK000157,AK092607,BC001477,BX462607,EL954585,W44700,CR603733 NP_060158,CAH70097,EAW87374,CAC09324,BAA90980,AAH01477,Q5W0U4 Hs.632677 FLJ20150 protein-coding 1342632 BST1 bone marrow stromal cell antigen 1 Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. 1580863 8202488,18211745,16344560,16335952,15815621,15489334,15328157,12477932,12415565,11866528,11602246,11439087,10599889,9030974,8941363,8889548,8645283,8630113 683 NM_004334,AC114744,CH471069,AB175627,BC012095,BT019502,BU732655,CR603536,D21878,DA382561 NP_004325,AAY40930,EAW92744,BAE92566,AAH12095,AAV38309,BAA04885,Q10588,Q1XII0 Hs.399980 GDB:374180 CD157 protein-coding 1346555 BST2 bone marrow stromal cell antigen 2 Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. 1580863 12761501,7607676,18200009,16602701,16157322,15489334,12477932,10329429,9373149,8522202,8125298 684 NM_004335,AC010319,CH471106,AK223124,AK291099,BC033873,CR591045,CR609450,D28137 NP_004326,EAW84602,EAW84603,BAD96844,BAF83788,AAH33873,BAA05679,Q10589 Hs.118110 GDB:409946 CD317 protein-coding 1626189 BSX brain-specific homeobox 17353277,14678827 390259 NM_001098169,AP003040,AB231738 NP_001091639,BAE46889,Q3C1V8 Hs.449687 BSX1 protein-coding 1352187 BTAF1 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) Initiation of transcription by RNA polymerase II requires the assistance of TATA box-binding protein (TBP; MIM 600075) and TBP-associated factors, or TAFs (e.g., TAF2B; MIM 604912), in 2 distinct complexes, TFIID and B-TFIID. The TFIID complex is composed of TBP and more than 8 TAFs. However, the majority of TBP is present in the B-TFIID complex, which is composed of TBP and TAFII170, also called TAF172, and has DNA-dependent ATPase activity.[supplied by OMIM] 1580863 9342322,9488487,18025106,16531235,15509807,15302935,14988402,12646231,12477932,10642510,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,9159119 9044 NM_003972,AF166116,AF166118,AL359198,AL365398,CH471066,CQ834836,AB208843,AF038362,AJ001017,BC029930,BC030273,BC047009,BC112201,CR621419 NP_003963,AAF37802,AAF37803,CAH73478,EAW50102,EAW50103,CAH05633,BAD92080,AAC04573,CAA04475,AAH29930,AAH30273,AAH47009,AAI12202,O14981,Q05C17,Q59HB6,Q5VXE8,Q6PI32,Q8N6J1 Hs.500526 GDB:9954802 KIAA0940|MGC138406|MOT1|TAF(II)170|TAF172|TAFII170 protein-coding 1322160 BTBD1 BTB (POZ) domain containing 1 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 11179693,11256614,16381901,15489336,15489334,15486563,14702039,12878161,12477932,11818025,11230166,11076863,10737800,9373149,8125298 53339 NM_001011885,NM_025238,AC022558,AC024270,CH471188,AF257241,AF355402,AF529369,AK000731,AK225355,AK225362,AL136853,AY364253,BC017464,BC028097,BF095127,BI553790,CR602779,CR610149 NP_001011885,NP_079514,EAW62429,EAW62430,AAK17068,AAK25825,AAQ09603,BAA91345,CAB66787,AAQ76812,AAH28097,Q0JS76,Q3ZTS5,Q9H0C5,CAL38638,ABM82384,ABM85561 Hs.459149 GDB:10796278 C15orf1|NS5ATP8 protein-coding 1601947 BTBD10 BTB (POZ) domain containing 10 16344560,15556295,15489334,14702039,12477932 84280 AC016884,AC021269,CH471064,AF329102,AK095946,AK292392,AL832981,AY221959,BC005071,BC017072,BC062633,NM_032320,CR609613,DB030132 NP_115696,EAW68497,EAW68498,EAW68499,EAW68500,EAW68501,EAW68502,AAL69061,BAF85081,CAH56329,AAO64360,AAH05071,AAH17072,AAH62633,Q6P5W1,Q7L2U6,Q9BSF8 Hs.332382 GMRP-1|GMRP1|MGC13007 protein-coding 1318539 BTBD11 BTB (POZ) domain containing 11 14702039,12477932 121551 NM_001018072,NM_001017523,AC007540,AC007649,AC009774,CH471054,AI638039,AK091276,AK094304,AK122818,AK124835,AK127012,AK127295,AK128445,AY373588,BC027931,BC093627,BC093629,BC101561,BC101563,BC146824 NP_001018082,NP_001017523,EAW97799,EAW97800,EAW97801,BAC03626,BAC85963,AAR21078,AAH93627,AAH93629,AAI01562,AAI01564,AAI46825,A6QL63 Hs.271272 FLJ33957|FLJ42845 protein-coding 1347724 BTBD12 BTB (POZ) domain containing 12 15616553,15489334,14702039,12477932,11853319,11347906 84464 NM_032444,AC006111,CH471112,AB058687,AB075867,AK095411,AK122775,AL442083,BC029952,BC036335,BC104222,BC104223,BC112989,BC112990,BE887716,BM541728 NP_115820,EAW85345,EAW85346,EAW85347,BAB47413,BAB85573,CAH10659,AAH36335,Q69YT8,Q8IY92,Q8TF15 Hs.143681 KIAA1784|KIAA1987 protein-coding 1319559 BTBD14A BTB (POZ) domain containing 14A 737633,1580863 15489334,15164053,12477932 737633 138151 NM_144653,AL138781,AL355574,AL591038,CH471090,BC015649,BM791117 NP_653254,CAI14117,EAW88193,EAW88194,EAW88195,EAW88196,EAW88197,AAH15649,Q96BF6,ABM84400,ABM87147 Hs.112895 BTBD14|MGC23427 protein-coding 732621 BTBD14B BTB (POZ) domain containing 14B Members of the BTB/POZ family of transcriptional regulators, including BTBD14B, contain a conserved motif in the N-terminal region critical for protein-protein interactions and assembly of high molecular mass complexes (Korutla et al., 2002 [PubMed 11906783]).[supplied by OMIM] 737633,1580863 14702039,12477932,11906783,15302935,18347169,17804717,17391728,17130457,16033423,15489334 737633 112939 NM_052876,AC005546,AC011446,CH471106,AF395817,AK094702,AK123056,AK226064,BC055396,BU508302,CR623895 NP_443108,EAW84352,EAW84353,EAW84354,AAK83885,BAC04401,AAH55396,Q8N1W5,Q96RE7 Hs.531614 FLJ37383|NAC1 protein-coding 1322924 BTBD16 BTB (POZ) domain containing 16 15489334,15164054,14702039,12477932 118663 NM_144587,AL135793,BX842243,CH471066,AA926746,AK058088,BC109261,BC109262 NP_653188,CAI95133,EAW49320,EAW49321,BAB71658,AAI09262,AAI09263,Q32M84 Hs.422466 C10orf87|FLJ25359|MGC129864|MGC129865 chromosome 10 open reading frame 87 protein-coding 1344972 BTBD2 BTB (POZ) domain containing 2 The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. 1580863 12782588,12477932,11818025,16169070,15761153,15489334,15231748,15057824,14702039,12878161,11179693,9373149,9110174,8619474,8125298 55643 BC008035,BC053986,NM_017797,AC004678,AC005306,CH471139,AF355797,AK000393,AK027481,AK056818,AK225831,AL360275,AY007116,BC000564,BC069199,BC094820,BU849231,CR457230,CR622857 AAH08035,NP_060267,AAC16070,AAC26984,AAG45443,EAW69424,EAW69425,AAK25826,BAA91136,BAB55143,CAB96527,AAH00564,AAH53986,AAH69199,AAH94820,CAG33511,Q6NT96,Q9BX70,AAI52719 Hs.465543 GDB:11505694 protein-coding 1323177 BTBD3 BTB (POZ) domain containing 3 1580863 14702039,12477932,12421765,11780052,10231032 22903 NM_181443,NM_014962,AL035448,CH471133,AB023169,AK024349,AL137756,BC093677,BC101527,BC109315,BC109316,CB961606,CR614620 NP_852108,NP_055777,CAC22147,CAI22619,EAX10327,EAX10328,BAA76796,CAB70908,AAH93677,AAI01528,AAI09316,AAI09317,Q52M42,Q5JY73,Q9NST6,Q9Y2F9 Hs.244590 GDB:9957711 KIAA0952|MGC130038|MGC130039|dJ742J24.1 protein-coding 1352605 BTBD6 BTB (POZ) domain containing 6 1580863 15489334,12477932,12107413 90135 NM_033271,AL512355,CH471061,AF086420,AF173358,AF353674,BC006414,BC042525 NP_150374,EAW81913,EAW81914,AAF36536,AAK39520,AAH06414,AAH42525,Q96KE9,Q9NZS8 Hs.7367 BDPL protein-coding 1345329 BTBD7 BTB (POZ) domain containing 7 15489334,14702039,12477932,11527404,10819331 55727 NM_001002860,NM_018167,AL122023,AL132838,CH471061,AB040958,AI452701,AK001510,AK021953,AK074354,AK091287,AK291422,AL049394,BC047071,BC141850,BX248762,BX538231,CR601367 NP_001002860,NP_060637,EAW81525,EAW81526,EAW81527,EAW81528,EAW81529,BAA96049,BAA91730,BAB13946,BAF84111,CAH10736,AAH47071,AAI41851,CAD66569,CAD98074,Q9P203 Hs.525549 DKFZp686N0544|FUP1|MGC48310 protein-coding 1347221 BTBD8 BTB (POZ) domain containing 8 15489334,14654994,12477932 284697 NM_183242,AC104836,CH471097,AY346333,BC013922 NP_899065,EAW73102,EAW73103,EAW73104,AAQ24383,AAH13922,Q5XKL5 Hs.676102 protein-coding 1315893 BTBD9 BTB (POZ) domain containing 9 1580863 17637780,17634447,16344560,14702039,12477932,11572484 114781 NM_052893,NM_152733,AL031905,AL033518,AL079341,AL355345,AL451162,CH471081,AB067467,AK057507,AK090930,AK126242,AL157476,BC035667,BC101354,BC101355,BC101356,BC101357,BX537534,CR596814,CR616810,DA391209,DB095510,NM_001099272 NP_001092742,NP_443125,NP_689946,CAI42804,CAI42590,CAI20152,CAI43022,EAX03959,EAX03960,EAX03961,BAB67773,BAB71514,BAC03550,AAI01355,AAI01356,AAI01357,AAI01358,Q494V9,Q494W0,Q494W1,Q5JYJ0,Q5JYJ1,Q5TF66,Q8N299,Q96Q07 Hs.654635 FLJ32945|KIAA1880|MGC120517|MGC120519|MGC120520|dJ322I12.1 protein-coding 736353 BTC betacellulin The protein encoded by this gene is a member of the EGF family of growth factors. It is synthesized primarily as a transmembrane precursor, which is then processed to mature molecule by proteolytic events. This protein is a ligand for the EGF receptor. 1580863 8144591,8439318,17962208,17895248,17525275,17479438,16869959,16683131,16381901,16306376,15936459,15793259,15507448,15489336,15489334,15274392,15248827,15192046,12768307,12477932,12111392,12074582,11254912,11076863,10940639,10706134,9662041,9528863,8919026,7590736,16189514 685 NM_001729,AB109443,AC098825,AC116645,AC123887,CH471057,AB109441,BC011618,S55606 NP_001720,BAC76611,EAX05712,BAC76609,AAH11618,AAB25452,P35070,Q0JST7,Q86UF5,CAL37603,CAL37873,CAL38181,CAL38427 Hs.591704 GDB:371586 protein-coding 1313273 BTD biotinidase Biotinidase functions to recycle biotin in the body by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. Biotinidase has also been shown to have biotinyl-transferase activity. Defects in the biotinidase gene cause multiple carboxylase deficiency. 1580863 7509806,7550325,17185019,16341674,16335952,15776412,15489334,12618081,12477932,12359137,11668630,10737800,10655158,10206677,9654207,9530634,9396567,9099842,8001986,3930841,1679665 686 NM_000060,AC027129,AF018631,CH471055,BC012099,BE814713,BM839350,CR624205,U03274 NP_000051,AAC21679,EAW64254,EAW64255,EAW64256,AAH12099,AAC04318,P43251 Hs.517830 GDB:309078 protein-coding 1317667 BTF3 basic transcription factor 3 This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. 1580863 1386332,18025262,2320128,17312387,15716105,15489334,12477932,11329013,10094400,9373149,8125298,8047162 689 NM_001037637,NM_001207,AC099522,BX537826,CH471084,M90352,M90357,AB062126,AK225964,AK291125,BC008062,BC061913,BG182166,BT007120,BU661989,BX359147,CR590631,CR596528,CR599581,CR601105,CR602182,CR602819,CR603059,CR604932,CR605220,CR605983,CR607270,CR608812,CR609041,CR612512,CR612642,CR619863,CR620679,CR621732,CR622146,CR626478,X53280,X74070 NP_001032726,NP_001198,EAW95724,EAW95725,EAW95726,EAW95727,EAW95728,AAA58398,BAB93458,BAF83814,AAH08062,AAP35784,EAW95723,CAA37375,CAA52200,P20290,ABM83902,ABM87223 Hs.591768 GDB:135165 BETA-NAC|BTF3a|BTF3b|NACB protein-coding 1344506 BTF3L1 basic transcription factor 3, like 1 1580863 12477932,9325059,1386332 690 NG_004671,AC000403,M90354,BC106717,BC106718,BC115358 AAA58400 Hs.567241 GDB:9772231 HUMBTFB|OCIF|OPG|TNFRSF11B pseudo 1347464 BTF3L2 basic transcription factor 3, like 2 This locus represents a putative member of the BTF3 family of transcription factors. With no transcription yet documented, it is thought that this locus represents a pseudogene. 1580863 1386332 652963 NG_005366,AC021558,M90355 AAB04035,Q13891 GDB:9772234 HUMBTFC pseudo 1345867 BTF3L3 basic transcription factor 3, like 3 This locus defines a putative member of the BTF3 family of transcription factors and is thought to represent a pseudogene. 1580863 1386332 132556 NG_006070,AC114811,M90356 AAA58401,Q13892 GDB:9772236 HUMBTFD pseudo 1605903 BTF3L4 basic transcription factor 3-like 4 16710414,15489334,14702039,12477932,11181995 91408 NM_152265,AL139156,AL445685,AL606761,AX882440,CH471059,AK027582,AK027750,BC021004,BC022371,BC070378,CR611839,CR617527 NP_689478,CAI17032,CAE91581,EAX06795,EAX06796,EAX06797,EAX06798,EAX06799,BAB55342,AAH21004,AAH22371,AAH70378,Q6PJ77,Q96K17,ABZ92137 Hs.538093 MGC23908|MGC88389|RP4-800M22.5 protein-coding 1354341 BTF3P1 basic transcription factor 3, pseudogene 1 1386332 693 NG_001086,AC090186,M90353 GDB:9772230 HUMBTFA pseudo 1344981 BTF3P2 basic transcription factor 3, pseudogene 2 283631 NG_002470,AL121766 pseudo 736072 BTG1 B-cell translocation gene 1, anti-proliferative The BTG1 gene locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. It is a member of a family of antiproliferative genes. BTG1 expression is maximal in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. It negatively regulates cell proliferation. 11420681,15033446,1373383,9690562,15674337,15489334,14734530,12477932,12135500,11856371,11429045,11136725,10617598,8663146,2069907,16189514,9820826 694 AC025164,AY850133,CH471054,S38424,S38425,BC009050,BC016759,BC064953,NM_001731,BT019839,BT019840,BT019841,CR456876,CR541782,CR590022,CR595512,CR601264,CR604248,CR604369,CR606339,CR609466,CR609805,CR614716,CR615938,CR616550,CR616928,CR617798,CR620161,X61123 NP_001722,AAV97814,EAW97466,EAW97467,AAA08538,AAH16759,AAH64953,AAV38642,AAV38643,AAV38644,CAG33157,CAG46581,CAA43435,P62324,Q6IBC8,ABW03845,ABW03541 Hs.255935,Hs.651357 GDB:137082 protein-coding 69157 BTG2 BTG family, member 2 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein is involved in the regulation of the G1/S transition of the cell cycle. 1580863,2289074,2289078,2289068,2289069,2289070,2289075,2289081 17353931,8944033,18337750,18288394,17371797,16997058,16782888,16710414,16418486,15788397,15741235,15542835,15489334,15378000,15056715,12771185,12477932,12360398,12135500,11989967,11930152,11856371,11814693,11470758,11429045,11377414,11267995,11237868,11136725,10669755,10617598,10341341,10200315,9828097,9712883,8891336,8663146,1713584 2289074,2289078,2289068,2289069,2289070,2289075,2289081 7832 NM_006763,AF361937,AL513326,CH471067,BC105948,BC105949,CR591042,CR595352,CR604962,CR606002,U72649,Y09943 NP_006754,AAL05626,CAH70451,EAW91475,EAW91476,AAI05949,AAI05950,AAB37580,CAA71074,P78543,ABZ92453 Hs.519162 GDB:9955633 MGC126063|MGC126064|PC3|TIS21 b-cell translocation gene 2, anti-proliferative protein-coding 733952 BTG3 BTG family, member 3 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. 1580863 9632145,17690688,16713569,15489334,12477932,11429045,11377414,10940556,10830953,9067576,16189514 10950 NM_006806,AF200465,AP000432,AP000967,CH471079,AK289408,AL049332,BC011957,BC028229,BT007276,CR457061,CR590787,CR593770,CR598696,CR600061,CR602342,CR604425,CR607894,CR608349,CR618065,CR618737,CR620760,D64110 NP_006797,AAF24345,EAX10026,EAX10027,EAX10028,EAX10029,BAF82097,AAH11957,AAP35940,CAG33342,BAA33788,Q14201,Q53XV1,Q6IAU3,Q9UHB2,ABM82261,ABW03379 Hs.473420 GDB:9958636 ANA|MGC8928|TOB5|TOB55|TOFA protein-coding 1318793 BTG4 B-cell translocation gene 4 The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the cell cycle. 1580863 10995567,15672409,12477932,11429045,11267995 54766 NM_017589,AP002008,CH471065,AJ271351,BC031045 NP_060059,EAW67140,CAB69821,AAH31045,Q8NEH7,Q9NY30,ABM81904,ABM84644 Hs.128180 GDB:11504487 MGC33003|PC3B protein-coding 1342660 BTK Bruton agammaglobulinemia tyrosine kinase Defects in the Bruton tyrosine kinase (BTK) gene cause Agammaglobulinemia. Agammaglobulinemia is an X-linked immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. 1600526,1580863 11913944,9012831,9571151,11788586,15046600,8688094,8013627,18051214,12437073,12405164,12235133,12204007,12001708,11934902,11920564,11877742,11751885,11742120,11698416,11668622,11665629,11598012,11577348,11527964,11524430,11507089,11438999,11434777,11413148,11373296,11329620,11313464,11231015,11226282,11163197,10872802,10612838,10561498,10498607,10427990,10373551,10339589,10220140,10201980,10196129,10068673,9837922,9796816,9770463,9751072,9742969,9545398,9485443,9445504,9373149,9333013,9280283,9260159,9218782,9201297,9178903,9110171,9016530,8892607,10556826,8834236,8758136,8723128,8695804,8634718,8630736,8629002,8617237,8594569,8425221,8380905,8283037,8258324,8162056,8162018,8125298,8090769,8058772,7972043,7959728,7927535,7925280,7907259,7897635,7880320,7849721,7849697,7849006,7809124,7711734,7633429,7633420,7629518,7627183,7626884,7522330,2881637,1915549,18022864,17932028,17765309,17707910,17264076,16951917,16751014,16517732,16439361,16415872,16300960,16159644,16141323,15939795,15894173,15849198,15772651,15712380,15489334,15466623,15375214,15203319,15184383,15087455,15082835,15007095,14974089,14702039,14634110,14623887,14614850,12970174,12854903,12810683,12769846,12768435,12724322,12573241,12477932,12445832,12679936 1600526 695 NM_000061,AL035422,CH471115,L31572,U10087,U13433,U78027,AF153364,AF153755,AF153756,AF153757,AF153758,AF153759,AF153761,AF153762,AF153763,AF153764,AJ888376,AJ888377,AJ888378,AJ888380,AK057105,AK225577,AM051275,AM051276,AM051277,AM051278,AF153760,AM051279,AM051280,AM051281,AM051282,AM051283,AM051284,AM051285,AM051286,BC109079,BC109080,X58957 NP_000052,CAB55876,CAI42359,EAX02856,EAX02857,EAX02858,AAA61479,AAB60639,AAC51347,AAB64205,AAF61477,AAF37332,AAF37333,AAF37334,AAF37335,AAF37336,Q9P0L5,Q9P0L6,Q9P0L7,Q9P0L8,Q9P0M0,Q9P0L4,AAF37337,AAF37338,AAF37339,AAF37340,AAF37341,CAI59842,CAI59836,CAI59837,CAI59839,CAJ19681,CAJ19682,CAJ19683,CAJ19684,CAJ19685,CAJ19686,CAJ19687,CAJ19688,CAJ19689,CAJ19691,CAJ19692,AAI09080,AAI09081,CAA41728,Q06187,Q3MS86,Q3MS87,Q3MS88,Q3MS89,Q3MS90,Q3MS91,Q3MS92,Q3MS93,Q3MS94,Q3MS95,Q3MS96,Q3MS97,Q572P1,Q572P3,Q572P4,Q572P5,Q5JY90,Q9NPI2,Q9NPI3,CAJ19690,Q9P0L3 Hs.159494 GDB:120542 AGMX1|AT|ATK|BPK|IMD1|MGC126261|MGC126262|PSCTK1|XLA protein-coding 1350737 BTLA B and T lymphocyte associated BTLA expression is induced during activation of T cells, and BTLA remains expressed on Th1 cells but not Th2 cells. Like PD1 (MIM 600244) and CTLA4 (MIM 123890), BTLA interacts with a B7 homolog, B7H4.[supplied by OMIM] 1580863 17257317,17024343,16643847,16169851,16131544,15647361,15568026,15489334,14702039,14652006,12796776,12477932,10737800,9200459,9058799,9013950 151888 NM_001085357,NM_181780,AC092894,AA828425,AI792952,AJ717664,AK131204,AK292692,AW294080,AY293286,AY599411,AY606805,BC107091,BC107092,BE832323,CD702861,DQ198368 NP_001078826,NP_861445,CAG30680,BAD18396,BAF85381,AAP44003,AAT44901,AAV41229,AAI07092,AAI07093,ABA54407,Q3HS85,Q400G7,Q7Z6A9 Hs.445162 BTLA1|CD272|FLJ16065|MGC129743 protein-coding 1315909 BTN1A1 butyrophilin, subfamily 1, member A1 Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families 1580863 8611614,16498413,15489334,14574404,12477932,12456835,11170752,10429365,10376248,9382921,8132890,8114113,7775382,6830779 696 NM_001732,AL121936,CH471087,AA768577,AW977526,BC096312,BC096313,BC096314,BC096315,U39576 NP_001723,CAC16802,EAW55585,AAH96312,AAH96313,AAH96314,AAH96315,AAC50489,Q13410,Q4VAN1,Q4VAN2,Q4VAN3 Hs.153058 GDB:580606 BT|BTN protein-coding 1353022 BTN2A1 butyrophilin, subfamily 2, member A1 This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is an integral plasma membrane B box protein involved in lipid, fatty-acid and sterol metabolism. 9382921,17785817,14702039,14574404,12477932,11170752,9149941 11120 NM_078476,NM_007049,AL050330,AL121936,CH471087,U97495,U97496,U97497,AB209777,AK093886,BC016661,BX538050,CR592580,CR609907,U90142,U90543 NP_510961,NP_008980,CAB71221,CAC16801,EAW55577,EAW55578,EAW55579,EAW55580,EAW55581,EAW55582,AAC02653,AAC02654,BAD93014,AAH16661,CAD97989,AAC02650,AAB53421,Q59EN4,Q7KYR7,Q96AV7,Q9H459 Hs.159028 GDB:9956848 BK14H9.1|BT2.1|BTF1|DJ3E1.1|FLJ36567 protein-coding 1315891 BTN2A2 butyrophilin, subfamily 2, member A2 Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type 1 receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. 15489334,14702039,14574404,12477932,12124930,11170752,10354554,9149941 10385 NM_006995,NM_181531,AL021917,AL832800,CH471087,AK123902,AK289883,BC013258,BC014021,BC017497,BI754184,U90550 NP_008926,NP_853509,CAC03425,EAW55561,EAW55562,EAW55563,EAW55564,EAW55565,BAF82572,AAH14021,AAH17497,AAB53428,Q8WVV5 Hs.373938 GDB:9958723 BT2.2|BTF2|FLJ41908 protein-coding 1346357 BTN2A3 butyrophilin, subfamily 2, member A3 1580863 14702039,14574404,11170752 54718 NM_024018,AL021917,CH471087,AK056871,AK292658 NP_076923,CAC69644,EAW55569,EAW55570,EAW55571,BAB71298,BAF85347,Q96KV6,Q96MJ0,AAI66633 Hs.370522 GDB:11505698 protein-coding 1346965 BTN3A1 butyrophilin, subfamily 3, member A1 1580863 9149941,15489334,14574404,12477932,11170752,9382921,9373149,8125298 11119 NM_007048,AL021917,CH471087,AA977088,AK223474,AK290193,AK291162,BC065567,BC118586,BC121800,BG744194,BM147268,BM542639,BU178206,BU617041,CA309315,CB148209,CD110416,CR595855,T86577,U90552,Y07827 NP_008979,CAC03424,EAW55567,BAD97194,BAF82882,BAF83851,AAI18587,AAI21801,AAB53430,CAA69164,O00481 Hs.191510,Hs.628564 GDB:9956845 BT3.1|BTF5|CD277|MGC141880 protein-coding 1346267 BTN3A2 butyrophilin, subfamily 3, member A2 This gene encodes a member of the immunoglobulin superfamily, containing two Ig domains with similarity to Ig variable and Ig constant domains. The gene resides in the juxta-telomeric region of the major histocompatability class 1 locus on chromosome 6 in the seven member BTN cluster, which includes butyrophilin, and three members each of the BTN2 and BTN3 subfamilies. Alternatively spliced transcript variants have been described but their full-length nature has yet to be determined. 1580863 15489334,14574404,12477932,11170752,9382921,9149941 11118 NM_007047,AL021917,CH471087,U97499,U97502,AK290880,BC002832,BC020214,BC067086,CD686792,CD705662,CR626326,U90143,U90144,U90546,AF257505 NP_008978,CAA17277,EAW55557,EAW55558,EAW55559,EAW55560,AAC02655,AAC02656,AAF76140,BAF83569,AAH02832,AAH20214,AAH67086,AAC02651,AAC02652,AAB53424,P78409,P78410,Q6NXG7,Q7KYR6 Hs.376046 GDB:9954396 BT3.2|BT3.3|BTF4 protein-coding 1349753 BTN3A3 butyrophilin, subfamily 3, member A3 1580863 15489334,15340161,14574404,12477932,11170752,10354554,9373149,9149941,8125298 10384 NM_006994,NM_197974,AL021917,CH471087,AB209581,AK223279,AK223301,AK291722,BC015815,BT007251,CR618410,U90548 NP_008925,NP_932078,CAA17273,EAW55572,EAW55573,EAW55574,EAW55575,EAW55576,BAD92818,BAD96999,BAD97021,BAF84411,AAH15815,AAP35915,AAB53426,O00478,Q53FI5,Q53FK5,Q59F79,ABM83522,ABW03508 Hs.167741 GDB:9958836 BTF3 protein-coding 1343392 BTNL1 butyrophilin-like 1 8114113,10803852 697 GDB:9957735 1353557 BTNL2 butyrophilin-like 2 (MHC class II associated) 17927685,17661910,17610417,17493147,17347014,17237401,17170388,16984233,16690410,16321988,16080124,15735647,15516930,14574404,12477932,10803852 56244 AF186588,AF186590,AF186593,AL662796,AL670296,AL935032,AY881999,BX255945,CH471081,AY684332,AY684333,BC119668,BC127641,BC127642,NM_019602 NP_062548,AAF05530,CAI18265,CAI17569,CAI17570,CAI18474,CAI18475,AAX35330,AAX35331,CAI18727,CAI41958,EAX03627,EAX03628,AAV91022,AAV91023,AAI19669,AAI27642,AAI27643,Q5HYR5,Q5JYF7,Q5SU33,Q9UIR0 Hs.534471 GDB:10796853 BTL-II|HSBLMHC1 protein-coding 1350246 BTNL3 butyrophilin-like 3 10429365,12975309,12477932 10917 NM_197975,AC091874,CH471165,AB020625,AK025267,AY358385,BC100800,BC100801,BC100802 NP_932079,EAW53729,EAW53730,BAA76664,AAQ88751,AAI00801,AAI00802,AAI00803,Q496L7,Q6UXE8 Hs.225949 GDB:9958593 BTNLR protein-coding 1348046 BTNL4 butyrophilin-like 4 444889 1345080 BTNL5 butyrophilin-like 5 444890 1344541 BTNL6 butyrophilin-like 6 444891 1347001 BTNL7 butyrophilin-like 7 444892 1351143 BTNL8 butyrophilin-like 8 15340161,14702039,12975309,12477932,9373149,8125298 79908 NM_001040462,NM_024850,AC022413,AC091874,CH471165,AK025111,AK225213,AY358523,BC119696,BC119697 NP_001035552,NP_079126,EAW53732,EAW53733,BAB15069,AAQ88887,AAI19697,Q6UX41 Hs.189109 FLJ21458|MGC149619 protein-coding 1353775 BTNL9 butyrophilin-like 9 15489334,14702039,12975309,12477932 153579 NM_152547,AC008620,AC091874,CH471165,CQ789638,AK057097,AL833663,AY358358,BC029040,BC042112,BC062459 NP_689760,EAW53724,EAW53725,EAW53726,EAW53727,EAW53728,CAG24379,BAB71365,AAQ88724,AAH29040,AAH42112,AAH62459,Q6UXG8,Q8N324 Hs.546502 BTN3|VDLS1900 protein-coding 1347748 BTRC beta-transducin repeat containing This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. This protein is homologous to Xenopus bTrCP1, yeast Met30, Neurospora Scon2 and Drosophila Slimb proteins. It interacts with HIV-1 Vpu and connects CD4 to the proteolytic machinery. It also associates specifically with phosphorylated IkappaBalpha and beta-catenin destruction motifs, probably functioning in multiple transcriptional programs by activating the NF-kappaB pathway and inhibiting the beta-catenin pathway. 1580863,2293188 10564661,10531035,10514424,10331953,10228155,10072378,9990852,8889548,16354571,16165251,17121803,12609982,14743216,15994554,15782160,9859996,12791267,9990853,9660940,12820959,15469984,18378770,18354483,18354482,18316598,18052253,17491012,17387146,17319651,17295679,17217622,17053147,16757476,16705181,16691619,16651270,16371461,16303288,16189514,15927956,15917222,15735746,15489334,15340078,15070733,14988407,14676825,14603323,14561767,14526201,12902344,12482991,12477932,12151397,12124804,12114015,12077367,12037680,11994270,11850407,11818547,11696595,11359933,11278695,10983987,10918611,10835356,10828603,10803460,10713156,10644755 2293188 8945 NM_033637,NM_003939,AL133387,AL445463,AL627424,AL833133,CH471066,AA824369,AF101784,AF129530,AL707686,BC006204,BC027994,BC063673,BQ188694,BX389753,CR749295,Y14153 NP_378663,NP_003930,CAH70019,CAH70020,CAI12962,CAI12963,CAI12964,CAI41042,CAI41043,EAW49770,EAW49771,EAW49772,EAW49773,EAW49774,AAD08702,AAF04464,AAH27994,CAH18150,CAA74572,Q5T1W7,Q5W141,Q5W142,Q68DS0,Q9Y297 Hs.696242 GDB:9953268 BETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|MGC4643|bTrCP|bTrCP1|betaTrCP protein-coding 1349027 BTS1 bladder tumor susceptibility 1 619606 619606 698 GDB:6053732 1323304 BUB1 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) This gene encodes a kinase involved in spindle checkpoint function. The kinase functions in part by phosphorylating a member of the miotic checkpoint complex and activating the spindle checkpoint. Mutations in this gene have been associated with aneuploidy and several forms of cancer. 1600539,1580863 9790499,9660858,18383837,18036341,17925231,17620410,17617734,17488820,11782350,11352911,11283619,11134360,10969775,10366450,10198256,9914370,9521327,9441741,9373149,8125298,15388328,17388661,17210994,17158872,16760428,16525682,16449967,16189514,16046481,15933723,15931389,15818396,15723797,15604152,15525512,15489334,15342556,15013707,14702039,12782591,12655561,12477932,12419313,12375025,12096343,11999574,11792804 1600539 699 NM_004336,AC114776,AF139363,AF264055,CH471237,AF011387,AF043294,AF046078,AF047471,AF053305,AI635394,AK023540,AK225317,AK291221,BC017038,BC028201,BP313176 NP_004327,AAY14706,AAD43675,AAK29549,EAW50355,AAC39546,AAB97855,AAC12729,AAC03122,AAC06259,BAF83910,AAH17038,AAH28201,O43683,Q53QE4,Q9BXX5 Hs.469649 GDB:6802741 BUB1A|BUB1L|hBUB1 protein-coding 1316316 BUB1B BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. 1580863,1600540 9763420,11285280,10477750,14593737,15504738,11535616,11742988,9660858,17676298,17498870,17478512,17464181,17376779,17350465,17268814,17210994,16411201,16227576,16144904,15592459,15475955,15190214,14706340,14576821,12477932,12445743,12419313,12388768,11907259,11792804,11782350,11702782,11283619,11274370,11256614,11129339,11030144,10749118,10593653,10366450,9914370,9889005,9618306,9521327,16189514,15388328,9482735,15525512 1600540 701 NM_001211,AC025429,AF310214,AF441125,CH471125,AB208782,AF035933,AF046079,AF046918,AF053306,AF068760,AF107297,AI742619,AL597325,BC018739 NP_001202,AAL10712,EAW92394,BAD92019,AAC23736,AAC12730,AAC33435,AAC06260,AAC19118,AAD11941,AAH18739,O60566,Q59HH6,Q8WV50 Hs.631699 GDB:9836076 BUB1beta|BUBR1|Bub1A|MAD3L|SSK1|hBUBR1 protein-coding 1315390 BUB3 BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 11283619,11285280,9660858,14593737,11535616,11742988,17289665,17268814,15796961,15635413,15489334,15388328,15302935,12762840,12477932,12242018,12217960,12011073,11129339,10828586,10366450,16189514,15525512 9184 NM_004725,NM_001007793,AC012391,CH471066,AF047472,AF047473,AF053304,AF081496,BC005138,BC022438,BU932619,BX647392,CR615326 NP_004716,NP_001007794,EAW49284,EAW49285,EAW49286,EAW49287,AAC28438,AAC28439,AAC06258,AAC36307,AAH05138,AAH22438,O43684,ABM82778,ABM85968 Hs.418533 GDB:9955188 BUB3L|hBUB3 protein-coding 1606207 BUD13 BUD13 homolog (S. cerevisiae) 15302935,12477932,9373149,8125298 84811 NM_032725,AP006216,CH471065,AK057832,AK225164,AK289635,AK291111,BC006350,CR600270,CR619032 NP_116114,EAW67265,EAW67266,BAB71593,BAF82324,BAF83800,AAH06350,Q9BRD0,ABM83689,ABM86992 Hs.437341 MGC13125 protein-coding 1604400 BUD31 BUD31 homolog (S. cerevisiae) 7841202,15489334,12853948,12690205,12477932 8896 AC004922,CH236956,CH471091,BC022821,BC104670,CR456951,CR589984,CR611044,CR622746,CR624167,CR626368,S77329,U11861,NM_003910 NP_003901,EAL23881,EAW76670,EAW76671,EAW76672,EAW76673,AAH22821,AAI04671,CAG33232,AAB33291,AAA20008,P41223 Hs.380233 EDG-2|EDG2|G10|MGC111202|YCR063W protein-coding 1344210 BVES blood vessel epicardial substance This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Two transcript variants encoding the same protein have been found for this gene. 1302855,1580863 10441744,15489334,12477932,10882522 1302855 11149 NM_007073,NM_147147,AL356775,CH471051,Z95329,AF204172,AK289979,BC034425,BC040502 NP_009004,NP_671488,CAI13619,CAI13620,EAW48430,EAW48431,EAW48432,AAG23405,BAF82668,AAH34425,AAH40502,Q5T550,Q5T551,Q8NE79 Hs.221660 GDB:9956954 HBVES|MGC42413|POP1|POPDC1 protein-coding 1347250 BVR1 Burkitt lymphoma variant rearranging region 1 700 M16601 GDB:125370 1315787 BXDC1 brix domain containing 1 1580863 17353931,15635413,15489334,14702039,12477932,12429849,12048200 84154 NM_032194,AL357515,CH471051,AK024740,AK292165,AL833613,BC005347,BC035314 NP_115570,CAH73394,CAH73395,CAH73396,EAW48301,EAW48302,EAW48303,EAW48304,BAB14983,Q5VXN1,Q9H7B2,BAF84854,AAH35314,Q5VXN0 Hs.372265 FLJ21087|RPF2|bA397G5.4 protein-coding 1605358 BXDC2 brix domain containing 2 11843177,17353931,15489334,14702039,12477932,11790298 55299 NM_018321,AC026801,CH471119,AF347667,AK001962,AK289610,AY364243,AY364244,BC001546,BC006014,BC036741,BX648902,CR593646,CR622822 NP_060791,EAW55909,EAW55910,AAL83818,BAA92003,BAF82299,AAQ76802,AAQ76803,AAH01546,AAH06014,AAH36741,Q8TDN6,Q9NUW4,ABM83034,ABM86228 Hs.38114 BRIX|FLJ11100 protein-coding 1602209 BXDC5 brix domain containing 5 12429849,16710414,15489334,14702039,12477932,11864606,11790298 80135 AA761809,AF322053,AK022537,AL359584,BC016051,CR593992,CR605940,CR626665,CR627468,NM_025065,AL359762,AL844170,CH471097 EAW73237,AAL37236,BAB14086,CAH10671,AAH16051,CAH10670,Q9H9Y2,NP_079341,CAH70204,CAH71914,CAH71915 Hs.481202 DKFZp761G0415|DKFZp761M0215|FLJ12475|RP11-118B23.1|RPF1 protein-coding 1352999 BYSL bystin-like Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. 1580863 17081983,15489334,14633596,12477932,9560222,17917702,17381424,10026108,9925933,16189514 705 NM_004053,AL160163,CH471081,BC007340,BC050645,BC062627,CR590222,CR590918,CR600573,CR604574,CR613680,CR620662,CR621938,CR624209,L36720 NP_004044,CAI23489,EAX04069,AAH07340,AAH50645,AAH62627,AAC16603,Q13895,Q5T8J2,ABM83840,ABM87162 Hs.106880 GDB:9836799 BYSTIN protein-coding 1346920 BZRAP1 benzodiazapine receptor (peripheral) associated protein 1 1302420,1580863 9915832,17855024,15489334,12477932,9734811 1302420 9256 NM_004758,NM_024418,AC004687,CH471109,AB014512,AF039571,BC031401,BC150279,BE246483,BX648763,CR597762 NP_004749,NP_077729,EAW94468,EAW94469,BAA31587,AAD11957,AAH31401,AAI50280,O95153 Hs.112499 DKFZp686F02123|KIAA0612|PRAX-1|PRAX1|RIM-BP1|RIMBP1 protein-coding 1606125 BZRPL1 benzodiazapine receptor (peripheral)-like 1 12477932 222642 NM_001010873,AL031778,CH471081,CS072422,BC104440,BC104441,BC137560,BC137565 NP_001010873,CAB44739,EAX04008,CAI93560,AAI04441,AAI04442,AAI37561,AAI37566,Q5TGU0 Hs.357392 MGC129806|MGC129807|dJ34B21.2 protein-coding 1347888 BZW1 basic leucine zipper and W2 domains 1 1302740 10942595,17081983,16964243,15815621,15489334,14702039,12477932,11524015,10964520,9373149,8125298,7584028,7584026,17353931 1302740 9689 NM_014670,AC007163,CH471063,AB074176,AK096489,AK223245,AL833518,BC001804,BC026303,CR624660,D13630,Z70221 AAX93286,NP_055485,EAW70212,EAW70213,BAE45739,BAD96965,AAH01804,AAH26303,BAA02795,CAA94180,Q3LIC9,Q53FN7,Q7L1Q6,ABM84154,ABM87556 Hs.355983 GDB:9784243 BZAP45|KIAA0005|Nbla10236 protein-coding 731291 BZW2 basic leucine zipper and W2 domains 2 17353931,17081983,15635413,15489334,14702039,12853948,12690205,12477932,11042152 28969 AF083246,AF110323,AK001218,AK001260,AK027837,BC001570,BC003056,BC008453,BC009597,BC017794,BC051898,BC107757,NM_014038,AC073201,AC073333,CH236948,CH471073,CR596038,CR596875,CR597590,CR598771,CR602535,CR603998,CR605115,CR605773,CR605808,CR606506,CR608637,CR611204,CR613733,CR616185,CR617428,CR617662,CR618505,CR618517,CR619763,CR620073,CR621525,CR622891,CR622998,CR623406 EAW93678,EAW93679,AAD39844,AAG39278,BAA91562,BAB55401,AAH03056,AAH08453,AAH09597,AAH17794,NP_054757,AAS07544,EAL24285,EAW93675,EAW93676,EAW93677,AAI07758,Q05D83,Q75MG1,Q96JW5,Q9Y6E2,ABM83422,ABM86634 Hs.487635 GDB:11509997 HSPC028|MST017|MSTP017 hfb2 protein protein-coding 1352536 C10orf10 chromosome 10 open reading frame 10 The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. 11256614,16713569,16381901,16344560,16189514,16123073,15977181,15489336,15489334,15164054,14702039,12477932,11230166,11076863 11067 NM_007021,AL353801,CH471160,AB022718,AB025244,AK002191,AK098476,AL136653,BC011402,CR592377,CR592827,CR614092,CR616425,CR617524,CR618606,CR623526,CR624673,DB030770 NP_008952,CAI13065,CAI13066,EAW86629,BAA74504,BAC87794,CAB66588,AAH11402,Q0JSZ5,Q9NTK1,CAL38369,ABM82987,ABM86180 Hs.93675,Hs.659219 DEPP|FIG protein-coding 1346550 C10orf100 chromosome 10 open reading frame 100 414242 1344061 C10orf101 chromosome 10 open reading frame 101 414243 1353488 C10orf102 chromosome 10 open reading frame 102 414244 AC022400 RP11-574K11.12 protein-coding 1350903 C10orf103 chromosome 10 open reading frame 103 12477932 414245 BC043233 Hs.661857 bA537A6.3 protein-coding 1345646 C10orf104 chromosome 10 open reading frame 104 737633 15489334,15164054,14702039,12477932 737633 119504 NM_173473,AL607035,CH471083,AI038150,AK023981,AK091047,BC009530,BF975718,CD724246,CR598398,CR607060,CR615306,CR618642,CR625345 NP_775744,CAI15909,EAW54448,EAW54449,EAW54450,EAW54451,AAH09530,Q96DE5 Hs.426296 FLJ33728|bA570G20.3 protein-coding 1346064 C10orf105 chromosome 10 open reading frame 105 12477932 414152 XM_001715769,XM_001716040,XM_001723289,AL731541,CH471083,AK074172,AK123442,BC071608 XP_001715821,XP_001716092,XP_001723341,EAW54433,BAB84998,Q5JQ40,Q8TEF2 Hs.568788 FLJ00245 protein-coding 1353258 C10orf106 chromosome 10 open reading frame 106 414246 1315529 C10orf107 chromosome 10 open reading frame 107 737633 15489334,12477932 737633 219621 NM_173554,AC022398,AL451049,CH471083,BC041932 NP_775825,CAI16227,CAI16228,EAW54221,EAW54222,EAW54223,EAW54224,AAH41932,Q5T1B8,Q8IVU9 Hs.673160 MGC44593|bA63A2.1 protein-coding 1347405 C10orf108 chromosome 10 open reading frame 108 414235 AK096000 1347708 C10orf109 chromosome 10 open reading frame 109 11181995 642394 NM_001098830,AL450386,CH471072,AF086274 NP_001092300,CAH74056,EAW86509,EAW86510,EAW86511,Q5VVG5 Hs.568831 bA466B20.1 protein-coding 1321229 C10orf11 chromosome 10 open reading frame 11 16964243,14702039 83938 NM_032024,AC012047,AC012048,AC013286,AC024603,AL136451,AL607027,AL731568,CH471083,AF267860,AK125328 NP_114413,EAW54585,EAW54586,EAW54587,AAG44729,Q5VSQ4,Q9H2I8 Hs.118161 CDA017 protein-coding 1353147 C10orf110 chromosome 10 open reading frame 110 55853 NM_018470,AF220183 1343828 C10orf111 chromosome 10 open reading frame 111 737633 15489334,15164054,12477932 737633 221060 NM_153244,AL590365,BC029034,BC036401 NP_694976,CAH73966,AAH29034,AAH36401,Q49AL1,Q8N326 Hs.567777 MGC35468|bA455B2.4 protein-coding 1346421 C10orf112 chromosome 10 open reading frame 112 340895 XM_295865,XM_001716843,XM_939359,AL157895,AL354695,AL391992,AL589943 XP_295865,XP_001716895,XP_944452,CAH71834,Q5VYJ5 bA265G8.2 protein-coding 1606384 C10orf113 chromosome 10 open reading frame 113 15164054 387638 NM_001010896,AL158160 NP_001010896,CAH70812,Q5VZT2,Q96S00 Hs.664110 bA165O3.1 protein-coding 1348766 C10orf114 chromosome 10 open reading frame 114 16344560,15164054,12477932 399726 NM_001010911,AL358780,CH471072,BC040880,BC130594,BC132974,CR596294,DA401077 NP_001010911,CAI13977,EAW86170,AAI30595,AAI32975,Q5T4H9 Hs.315568 bA418C1.3 protein-coding 1351499 C10orf115 chromosome 10 open reading frame 115 387642 Q5QP74 XM_370536,XM_939676,AL139281,CH471072 XP_370536,XP_944769,CAI12669,EAW86130,Q5QP74 Hs.132442 bA215C7.4 protein-coding 1348184 C10orf116 chromosome 10 open reading frame 116 APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. 737633 15489334,12477932,8619847 737633 10974 NM_006829,AL136982,CH471142,AI401530,BC004471,BM789611,BM850559,CD722742,D45370 NP_006820,CAI17116,CAI17117,EAW80313,AAH04471,BAA08226,Q15847,Q5TBU5 Hs.642660,Hs.700589 APM2|RP11-96C23.4 protein-coding 1316183 C10orf118 chromosome 10 open reading frame 118 737633,1299549 16381901,15489336,15489334,14996095,14702039,12783626,12477932,11230166,11076863 737633,1299549 55088 NM_018017,AC022023,AF273054,AI143965,AK001050,AK024739,AK057508,AK092620,AK094498,AL834368,BC020842,BC022229,BC030557,BC070368,BC100670,BC103499,BC103504,BC105632,BC107430,BC152306,BK001329,BX537964,BX643041 NP_060487,AAM44457,BAA91480,BAC03926,CAD39031,AAH20842,AAH22229,AAH30557,AAH70368,AAI00671,AAI03500,AAI05633,AAI07431,AAI52307,DAA01463,CAD97928,Q0JVF9,Q3B7W4,Q3ZB81,Q496Y1,Q7Z3E2,Q8WW61,CAL37501 Hs.159066,Hs.603328 FLJ10188|FLJ35301|MGC118918|MGC129699 protein-coding 1315515 C10orf119 chromosome 10 open reading frame 119 DNA replication is a carefully orchestrated process involving many proteins that assemble at origins of replication. Among these are the 6 proteins of the minichromosome maintenance (MCM) complex (e.g., MCM2; MIM 116945), which form a hexamer. Each MCM subunit performs an essential function in initiation and elongation of DNA replication. MCMBP can replace MCM2 in the MCM complex, thus forming an alternative MCM hexamer (Sakwe et al., 2007 [PubMed 17296731]).[supplied by OMIM] 737633 16964243,17296731,16189514,15489334,15146197,14702039,12477932 737633 79892 NM_024834,AC027672,CH471066,AA292620,AK001928,AK023143,AK094075,BC000935,BC004183,BC007219,CN259319,CR457299,CR609239 NP_079110,EAW49375,EAW49376,EAW49377,EAW49378,BAB14427,AAH00935,AAH04183,AAH07219,CAG33580,Q9BTE3 Hs.124246 FLJ13081|FLJ36756|MCM-BP|MCMBP protein-coding 1323299 C10orf12 chromosome 10 open reading frame 12 16189514,15489334,15164054,14702039,12477932 26148 NM_015652,AL442123,AK023084,AK025166,AK126886,AL049938,BC024315,BC031482 NP_056467,BAB14396,CAB43214,AAH24315,AAH31482,Q8N655 Hs.14555,Hs.427927 DKFZP564P1916|FLJ13022 protein-coding 1604915 C10orf120 chromosome 10 open reading frame 120 15489334,15164054,12477932 399814 NM_001010912,AL731543,CH471066,BC065903,BC140922 NP_001010912,CAI13357,CAI13358,EAW49307,AAI40923,Q5SQS8,Q5SQS9 Hs.363649 bA318C4.1 protein-coding 1352588 C10orf122 chromosome 10 open reading frame 122 15489334,15164054,12477932 387718 AL158835,AL805915,AK131010,BC062717,CR611441,XM_370582,XM_926761,XM_945727,XM_942118 XP_947211,CAH73213,AAH62717,Q5VZQ5,XP_370582,XP_931854,XP_950820 Hs.148259 FLJ27500|bA383C5.1 protein-coding 1343385 C10orf123 chromosome 10 open reading frame 123 414258 AL691429 Q5JSF6 bA288G11.5 protein-coding 1345714 C10orf124 chromosome 10 open reading frame 124 440012 AL691429 CAI17262,Q5SR77 bB137A17.2 protein-coding 1322512 C10orf125 chromosome 10 open reading frame 125 15146197,12477932 282969 NM_198472,NM_001098483,AL360181,CH471211,AK129527,BC129818,BC129819,BX119427,CN368132 NP_940874,NP_001091953,CAH70284,CAH70285,EAW61337,EAW61338,BAC85178,AAI29819,AAI29820,A2VDF0 Hs.155823 FLJ26016|MGC149258 protein-coding 1354072 C10orf127 chromosome 10 open reading frame 127 387662 BX538120 Hs.639806 bA285G1.3 protein-coding 1344407 C10orf128 chromosome 10 open reading frame 128 737633 12477932 737633 170371 NM_001010863,AC084727,AL441885,CH471187,BC031641,BC037922,BC042857,BC047724,BC104438,BC104439,CR607332,CR618023,CR624206,DQ884399,AL832399 NP_001010863,CAI12987,CAI12988,CAI12990,EAW93107,EAW93108,EAW93110,ABI63366,Q5T292 Hs.385493 protein-coding 1344514 C10orf129 chromosome 10 open reading frame 129 12477932 142827 NM_207321,AL157834,CH471066,AK126134,BC063654,BC104210,BC104211,BC112988,BC148184 NP_997204,CAH72344,EAW50014,BAC86458,AAH63654,AAI04211,AAI04212,AAI12989,Q6P461 Hs.134229 bA310E22.3 protein-coding 1346015 C10orf131 chromosome 10 open reading frame 131 414265 AL356155 CAI16400 bA690P14.3 protein-coding 1312882 C10orf132 chromosome 10 open reading frame 132 15489334,15164054,12477932 401647 NM_001010917,AL358938,CH471066,BC008047,BC020255,BC110810 NP_001010917,CAI14276,EAW49893,AAI10811,Q2TAP0 Hs.567524 C10orf133|MGC131701|bA451M19.3|bA459F3.4 protein-coding 1354019 C10orf133 chromosome 10 open reading frame 133 414267 1351322 C10orf134 chromosome 10 open reading frame 134 414268 1347268 C10orf135 chromosome 10 open reading frame 135 338617 1344034 C10orf136 chromosome 10 open reading frame 136 12477932 414260 XM_926383,XM_936868,XM_001717004,AL139237,BC017939 XP_931476,XP_941961,XP_001717056,CAH70844,Q5W0B8,Q8WVI9 Hs.351856 bA168P8.1 protein-coding 1322314 C10orf137 chromosome 10 open reading frame 137 737633 15489334,14702039,12609092,12477932 737633 26098 NM_015608,AL158835,CH471066,AF040247,AK025270,AK091507,AL050102,BC016903,BC026172,BC028715,BC029650,BC105929,BC107479,BC107896,BX648348 NP_056423,CAH73214,CAH73216,CAH73217,CAH73218,EAW49231,Q3B7T1,Q3KR40,Q5VZQ0,Q5VZQ1,Q5VZQ3,Q5VZQ4,Q9H700,Q9UHT2,EAW49232,EAW49233,EAW49234,EAW49235,EAW49236,AAC00001,BAB15100,CAB43273,AAH16903,AAH26172,AAI05930,O43599,AAI07480 Hs.468688 EDRF1|MGC125705|RP11-383C5.6 protein-coding 1352264 C10orf138 chromosome 10 open reading frame 138 414234 1605188 C10orf139 chromosome 10 open reading frame 139 14702039,12477932 399706 XR_039816,XR_039817,XR_039818,NR_015376,AL607085,CH471072,AK097673,BC133038,BC133040 EAW86512,Q5SW04 Hs.631815 FLJ40354|RP11-529L18.1 miscrna 1351198 C10orf14 chromosome 10 open reading frame 14 15164054 414171 1606383 C10orf140 chromosome 10 open reading frame 140 16344560,7829101 387640 NM_207371,AL358780,CH471072,AB234866,AK127130,AK131456,AL834446,BC142633,BI497298,DB320086 NP_997254,CAI13978,EAW86167,BAE93016,BAC86842,BAD18601,CAD39106,Q1XH10,Q5T4H8,Q6ZSV4,AAI56042 Hs.350848 DKFZp761J229|DLN-1|FLJ45187 protein-coding 2290515 C10orf141 chromosome 10 open reading frame 141 642938 NM_001039762,AL390920,AK127465,BC131825,BC137112 NP_001034851,BAC86991,AAI31826,AAI37113,Q6ZSG2 Hs.613882 FLJ45557 protein-coding 1343867 C10orf18 chromosome 10 open reading frame 18 737633 14702039,12477932,9373149,16189514 737633 54906 NM_017782,AL365356,AL596094,AB095927,AK000367,AK022966,AK024762,AK027014,AK095469,AK128051,AK091392,AK128055,AK128151,AK128211,AK225352,AL832762,BC001759,BC016688,BC020304,BC071976,BC110339,BX649177,CR592483,CR936780 NP_060252,CAH72616,CAH72617,CAI13367,CAI13368,BAC23103,BAA91115,BAB14336,BAB14993,BAB15627,BAC87251,BAC87327,AAH01759,AAH71976,AAI10340,Q5VWN6,Q6IPC8,Q6ZRI3,AAI66686 Hs.699500 DKFZp781E1986|FLJ20360|bA318E3.2 protein-coding 1348451 C10orf25 chromosome 10 open reading frame 25 15164054,14702039,12477932 220979 NM_001039380,AL353801,CH471160,AK055129,BC062568,BC130369,BC130395 NP_001034469,CAI13067,EAW86630,EAW86631,BAB70858,AAI30370,AAI30396,Q5T742 Hs.655124 FLJ30567 protein-coding 1314041 C10orf26 chromosome 10 open reading frame 26 16709928,16344560,15489334,15164054,14702039,12934113,12477932,9110174,8619474 54838 NM_001083913,NM_017787,AL353727,AL358790,AL391121,CH471066,AF070644,AK000161,AK000374,AK056285,AU253840,AY656171,AY656172,AY656174,AY656175,BC010506,BC063659,BC073886,BC113857,BC114465,BE207569,BI601510,BQ924256,CB130248,CF455358,CR591598,CX163170,DA797839 NP_001077382,NP_060257,CAI52496,EAW49673,EAW49674,BAA90983,BAA91122,AAV68559,AAV68560,AAV68561,AAV68562,AAI13858,AAI14466,Q1EG67,Q1EG68,Q1EG69,Q9NX94,Q9NXM7 Hs.500897,Hs.693257,Hs.707763 FLJ20154|FLJ20367|MGC125648|OPAL1 protein-coding 1322498 C10orf27 chromosome 10 open reading frame 27 18208870,16344560,15164054,14702039 219793 NM_152710,AL358817,CH471083,AK057382,BC060774,BC137543,BC137544,BC139728,DB032601,DB147708 NP_689923,CAI13854,CAI13855,EAW54411,EAW54412,EAW54413,BAB71459,AAI37544,AAI37545,AAI39729,Q96M53 Hs.386698 FLJ32820|spatial protein-coding 1317417 C10orf28 chromosome 10 open reading frame 28 16344560,15489334,15164054,14702039,12477932,10867487,8889548 27291 AF050198,AF525304,AK058187,AK094479,AK292546,BC009231,BC047908,BC098175,BC098268,BC098359,BC099848,BM969188,BU678731,DA114618,NM_014472,AL139241,AL355301,CH471066 AAC05748,AAP80788,BAC04364,BAF85235,AAH09231,AAH47908,AAH98175,AAH98268,AAH98359,AAH99848,Q4KMT0,Q4KMY3,Q4KMZ7,Q7Z5L2,Q96GU0,NP_055287,CAH72818,CAH72820,CAI16099,EAW49887,EAW49888,EAW49889 Hs.419800 FLJ25458|FLJ37160|GIDRP86|PSORT protein-coding 1314203 C10orf30 chromosome 10 open reading frame 30 16189514,15489334,15164054,14702039,12477932 222389 NM_152751,NM_001100912,AL359172,AL590677,CH471072,AK097602,AL832195,BC029597,BC031618 NP_689964,NP_001094382,CAI12222,CAI12223,CAI12224,CAI12660,CAI12661,CAI12662,EAW86285,EAW86286,EAW86287,EAW86288,BAC05114,AAH31618,Q8N7W2 Hs.498740 FLJ40283|MGC35247 protein-coding 1349358 C10orf31 chromosome 10 open reading frame 31 414196 AK097813 1323417 C10orf32 chromosome 10 open reading frame 32 15489334,15164054,14702039,12477932 119032 BC015994,NM_144591,AL358790,AY817668,CS300779,AK098071,AL832477 CAI46115,AAH15994,Q96B45,NP_653192,CAI52502,CAI52503,AAV68045,CAK32443 Hs.34492 DKFZp686B2219|FLJ40752|MGC27171|RP11-753C18.6 protein-coding 1353326 C10orf33 chromosome 10 open reading frame 33 15489334,15164054,14702039,12477932,9373149,8125298 84795 NM_032709,AL139243,CH471066,AK074429,AK075265,AK123713,AK225637,BC006131,BC035712,BC050574,CR597626,CR620799 NP_116098,CAI14149,EAW49884,EAW49885,BAC11507,AAH06131,Q8N2H3,ABM84344,ABM87786 Hs.238303 FLJ23849|MGC13047 protein-coding 1313704 C10orf35 chromosome 10 open reading frame 35 737633 16344560,15489334,15164054,12477932,11591653 737633 219738 NM_145306,AL450311,CH471083,BC013587,BF510821,CK903062,DB339258,DB465414 NP_660349,CAH72735,CAH72736,EAW54330,EAW54332,AAH13587,Q96D05 Hs.522992 protein-coding 1313160 C10orf38 chromosome 10 open reading frame 38 12477932,15489334,15164054,14702039 221061 NM_001010924,AL139338,AL590365,AL607028,CH471072,AK022946,AL050367,AY683003,BC034232,BC109302,BC109303,BX496483 NP_001010924,CAI12244,CAH73963,CAI12941,EAW86236,EAW86237,CAB43675,AAV85904,AAH34232,AAI09303,AAI09304,Q5VUB5,Q9Y438 Hs.66762 FLJ12884|MGC130014|MGC130015 protein-coding 1319845 C10orf4 chromosome 10 open reading frame 4 16169070,15489334,15203205,15164054,14702039,12477932,11483580 118924 NM_145246,AL157396,CH471066,AJ431721,AJ431722,AJ431723,AJ431724,AJ431725,AK090955,AL133616,BC018007,BM272089,BX648699,CR621041,CR625507 NP_660289,CAH73836,EAW50055,EAW50056,EAW50057,EAW50058,EAW50059,EAW50060,EAW50061,CAD24470,CAD24471,CAD24472,CAD24473,CAD24474,BAC03556,AAH18007,Q70Z53 Hs.658192 GDB:11510634 F26C11.1-like|FRA10A|FRA10AC1 protein-coding 1347042 C10orf40 chromosome 10 open reading frame 40 737633 12477932 737633 283025 XM_001720595,XM_001720448,XM_001720081,AC023904,BC038741,BC048976,BC119749,BC119750 XP_001720647,XP_001720500,XP_001720133,AAI19750,AAI19751,A4QN01 Hs.522955 protein-coding 1345140 C10orf41 chromosome 10 open reading frame 41 12477932 283065 XM_210876,XM_944126,AC010997,BC029963 XP_210876,XP_949219,A6NEH8 Hs.534598 protein-coding 1350474 C10orf43 chromosome 10 open reading frame 43 414155 1349832 C10orf44 chromosome 10 open reading frame 44 12477932 414201 BC033403 Hs.666576 bA402L1.3 protein-coding 1317719 C10orf46 chromosome 10 open reading frame 46 737633 15489334,15164054,14702039,12477932 737633 143384 NM_153810,AL139407,AL157388,CH471066,AJ544771,AK026985,AK057742,AK097728,AK131008,AY743663,BC038294,BG772719,BU623607 NP_722517,EAW49411,EAW49412,CAD67614,BAC05153,AAU89709,AAH38294,Q86Y37 Hs.420024 FLJ40409|MGC33215 protein-coding 1351835 C10orf47 chromosome 10 open reading frame 47 737633 15489334,15302935,15164054,12477932 737633 254427 CH471072,NM_153256,AL138898,BC007547,BC017269,BC029134,BC040040,BC048800,CR621861 NP_694988,CAH73460,CAH73461,CAH73462,CAH73463,EAW86336,EAW86337,EAW86338,EAW86339,AAH07547,AAH17269,AAH29134,AAH48800,Q86WR7 Hs.435775 MGC35403 protein-coding 1350104 C10orf49 chromosome 10 open reading frame 49 737633 18156182,15489334,15164054,12477932 737633 221044 NM_145314,AL138764,CH471072,BC018068 NP_660357,CAI12909,EAW86296,AAH18068,Q8WVF2 Hs.112998 UCMA protein-coding 1345207 C10orf50 chromosome 10 open reading frame 50 414150 1353902 C10orf51 chromosome 10 open reading frame 51 14702039,12477932 387644 XM_933401,XM_944617,AL365501,AK097405,AK128027,BC038408 XP_938494,XP_949710 Hs.529965 FLJ40086|FLJ46146|bB27G4.1 protein-coding 1349008 C10orf52 chromosome 10 open reading frame 52 645587 XM_928603,AL365501 XP_933696 FLJ35853 protein-coding 1345709 C10orf53 chromosome 10 open reading frame 53 737633 16344560,15489334,14702039,12477932 737633 282966 NM_182554,NM_001042427,AC069546,AC073366,CH471187,AK091773,AW182169,BC028127,BX102324,DB043416 NP_872360,NP_001035892,EAW93083,EAW93084,EAW93085,AAH28127,Q8N6V4 Hs.131287 protein-coding 1605963 C10orf54 chromosome 10 open reading frame 54 16189514,15498874,15489334,15340161,15231748,15164054,14702039,12975309,12477932 64115 BC127257,CR595858,CR598635,CR599757,CR600781,CR604197,CR610409,CR611971,CR612511,CR614217,CR614300,CR621313,CR624628,CR626183,EF506490,NM_022153,AL731541,CH471083,AF193048,AF289594,AK024449,AY265805,AY358379,BC020568,BC111048 AAI11049,AAI27258,ABP88253,Q2TA85,Q8WYG9,Q9H7M9,NP_071436,EAW54435,AAG22476,AAL55778,BAB15739,AAP03084,AAQ88745,AAH20568 Hs.47382 GI24|PP2135|SISP1 protein-coding 1348811 C10orf55 chromosome 10 open reading frame 55 15489334,15164054,14702039,12477932 414236 NM_001001791,AL596247,CH471083,AK092517,BC049374 NP_001001791,CAI13971,EAW54546,BAC03908,AAH49374,Q5SWW7 Hs.585453 bA417O11.3 protein-coding 1314625 C10orf56 chromosome 10 open reading frame 56 737633 17081983,15489334,15164054,14702039,12477932 737633 219654 BX648607,NM_153367,AL133481,CH471083,AK024784,AK075279,AL049949,BC016959,BC028617,BC032450,BC039249,BC053564 AAH53564,Q8N2G6,NP_699198,CAH72723,CAH72724,EAW54649,EAW54650,BAC11516,AAH28617,AAH39249 Hs.523080 FLJ90798 protein-coding 1313865 C10orf57 chromosome 10 open reading frame 57 737633 15489334,15164054,14702039,12477932,9373149,8125298 737633 80195 NM_025125,AL356095,CH471142,AK023325,AK222536,AL832397,AL832483,BC022252,BX537803,CR457310,CR606165,CR622847 NP_079401,CAI40443,CAI40444,CAI40445,CAI40446,CAI40447,EAW80409,EAW80410,EAW80411,EAW80412,EAW80413,EAW80414,BAB14528,BAD96256,AAH22252,CAG33591,Q5JTC0,Q5JTC1,Q8TBM7 Hs.169982 FLJ13263|RP11-369J21.6|bA369J21.6 protein-coding 1320148 C10orf58 chromosome 10 open reading frame 58 737633 14702039,12975309,12477932,11483580,9373149,8125298,16303743,15489334 737633 84293 NM_032333,AC021028,AL359195,CQ782618,CS072362,AA829725,AF086462,AF305824,AI589570,AK074643,AK075447,AK225387,AY359059,BC005871,BC024308,BC034631,BC045777,BC071938,CR596764,CR597458,CR606562,CR616574,CR618118,CR618887,CR619721,CR620707,DB494833 NP_115709,CAF85885,CAI93500,AAK55527,BAC11108,BAC11627,AAQ89418,AAH05871,Q9BRX8 Hs.500333 MGC4248 protein-coding 1320337 C10orf59 chromosome 10 open reading frame 59 Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM] 737633 17846126,17565281,17216203,15841207,15489334,15164054,14702039,12477932 737633 55328 NM_018363,NM_001031709,AL139406,AL353149,AL365185,CH471066,AK002080,BC005364,BX648154 NP_060833,NP_001026879,CAH73711,CAH73712,CAH70340,CAH70341,EAW50167,EAW50168,EAW50169,EAW50170,EAW50171,BAA92073,AAH05364,Q5VYX0 Hs.149849 FLJ11218|RENALASE protein-coding 1349080 C10orf6 chromosome 10 open reading frame 6 17081983,15164054,14702039,12477932,12459258 55719 AL133215,AL138762,CH471066,AF460991,AF460992,AI282394,AK001374,AK024283,AK057741,AK292565,NM_018121,AL832343,AL832383,AL833126,BC015131,BC020915,BC030565,BC047715,CR614509 NP_060591,CAI10931,CAI10932,CAI10933,EAW49805,EAW49806,EAW49807,EAW49808,AAN84475,BAA91657,BAB71557,BAF85254,AAH20915,AAH47715,Q05BG6,Q5W0L4,Q5W0L5,Q8IX21,Q8WW40,Q96LW0,AAI60007 Hs.447458 protein-coding 1351899 C10orf62 chromosome 10 open reading frame 62 16381901,16189514,15489336,15489334,15164054,12477932,11076863 414157 NM_001009997,AL355315,CH471066,BC037252,BC043281 NP_001009997,EAW49915,AAH37252,Q0JS47,Q0JSY3,Q0JTW9,Q0JUY7,Q5T681,CAL37434,CAL37673,CAL38043,CAL38061,CAL38381,CAL38664,CAL38665,CAL38667 Hs.662302 bA548K23.1 protein-coding 1320397 C10orf63 chromosome 10 open reading frame 63 Enkurin interacts with transient receptor potential canonical (TRPC) cation channels (see TRPC1; MIM 602343) and functions as an adapter protein, tethering signal transduction proteins to TRPC channels (Sutton et al., 2004 [PubMed 15385169]).[supplied by OMIM] 737633 15489334,15385169,15164054,14702039,12477932 737633 219670 AL512598,NM_145010,CH471072,AK095021,AK292495,AY454125,BC026165,CR936720 NP_659447,Q5VV23,Q8TC29,ABM83002,ABM86195,CAH70788,CAH70789,EAW86115,EAW86116,EAW86117,EAW86118,BAC04477,BAF85184,AAS45168,AAH26165 Hs.534486 DKFZp781F21103|MGC26778 protein-coding 1348188 C10orf64 chromosome 10 open reading frame 64 737633 15489334,14702039,12477932 737633 159491 XM_001124973,XM_001124974,XM_001719015,AC035139,AC068898,AK093607,AK127650,BC034937 XP_001124973,XP_001124974,XP_001719067,BAC04204,BAC87073,AAH34937,Q6ZS81,Q8N222 Hs.287379 FLJ36288|FLJ45748|MGC40604 protein-coding 1321399 C10orf65 chromosome 10 open reading frame 65 737633 12477932,15489334,15164054,14702039 737633 112817 NM_138413,AL355315,CH471066,AK094791,AK289440,BC011916,BC045550,BC057821 NP_612422,EAW49912,EAW49913,EAW49914,BAC04424,BAF82129,AAH11916,AAH45550,AAH57821,Q86XE5 Hs.180346 FLJ37472 protein-coding 1350054 C10orf67 chromosome 10 open reading frame 67 737633 15489334,15164054,12477932 737633 256815 NM_153714,AL592296,AL606469,CH471072,BC035732 NP_714925,CAI16751,CAI13711,EAW86129,EAW86131,EAW86132,AAH35732,Q8IYJ2 Hs.522360 MGC46732|RP11-792P23.2 protein-coding 1346795 C10orf68 chromosome 10 open reading frame 68 16344560,14702039 79741 NM_024688,AL354750,AL355540,AL356053,AL365203,AL591850,CH471072,AA401575,AK023093,AK097668,BC125090,BC125091,DB026046 NP_078964,CAC40698,CAM19967,EAW85962,EAW85963,BAB14400,BAC05140,AAI25091,AAI25092,Q08AN7,Q08AN8,Q5VTK2,Q96SF8,Q9H943 Hs.585464 FLJ13031|MGC149767|RP11-479G22.1|dJ1104A8.1 protein-coding 1353451 C10orf71 chromosome 10 open reading frame 71 15164054,14702039 118461 NM_199459,AC027674,AJ237663,AJ311357,AJ311358,AK056949,AK127811,AL833265,BC126413 NP_955629,CAC33852,CAC85340,CAC85341,BAB71321,AAI26414,Q711P9,Q711Q0,Q96MH0,Q9BQV1 Hs.585480 FLJ45913 protein-coding 1321317 C10orf72 chromosome 10 open reading frame 72 15489334,14702039,12477932 196740 NM_001031746,NM_144984,AC060234,AC084727,CH471187,AK056299,BC041414 NP_001026916,NP_659421,EAW93115,EAW93116,BAB71142,AAH41414,Q8IW00 Hs.522928 FLJ31737|MGC44086 protein-coding 1346857 C10orf73 chromosome 10 open reading frame 73 12477932 170370 AC084727,BC029839,BC047597,XM_096317,XM_001715115,XM_937528 XP_942621,AAH29839,AAH47597,A6NMN3,XP_096317,XP_001715167 Hs.646291 protein-coding 1348649 C10orf75 chromosome 10 open reading frame 75 737633 12477932 737633 90271 XM_001132143,XM_001132075,BC024924,BC045787,BC062533 XP_001132143,XP_001132075 Hs.654734 FLJ12974|bA34D15.5 protein-coding 1313900 C10orf76 chromosome 10 open reading frame 76 16344560,14702039,12477932,10737800 79591 NM_024541,AC010789,AL391827,AL592069,CH471066,AK023176,AK097972,AW936405,BC032118,BC054882,BC110511,DA020448,DA311439,DR002231,DT932690 NP_078817,CAI16230,CAI16231,CAI16232,EAW49727,EAW49728,EAW49729,BAB14447,AAH54882,AAI10512,Q5T2E6,Q5T2E7,Q7Z2U8 Hs.16004 FLJ13114|MGC125927|RP11-190J1.9 protein-coding 1313532 C10orf78 chromosome 10 open reading frame 78 737633 15489334,15164054,12477932,10409428 737633 119392 CH471066,AK123954,AK291184,BC020892,BC043256,BC047587,BE960638,BG942691,CD694866,NM_145247,NM_001002759,AL357336 EAW49610,EAW49611,BAF83873,AAH20892,Q5JT39,Q86XK3,NP_660290,NP_001002759,CAI40454,CAI40456 Hs.93667 FLJ41960|RP11-373N18.1|bA373N18.1 protein-coding 1350133 C10orf79 chromosome 10 open reading frame 79 737633 16344560,14702039,12477932 737633 80217 NM_025145,AL139341,AL357336,CH471066,AK026597,AK093325,AL136901,AL833836,AW269011,BC036647,BC071565,DA681478,DB065957 NP_079421,CAI17220,CAI17221,CAI17222,CAI17223,CAI40457,CAI40458,CAI40459,EAW49605,EAW49606,EAW49607,EAW49608,EAW49609,BAB15506,BAC04133,CAB66835,CAD38696,AAH36647,Q5JT42,Q5TA04,Q5TA05,Q8NDM7 Hs.288927 FLJ22944|FLJ36006|RP11-373N18.2|bA373N18.2 protein-coding 1344870 C10orf81 chromosome 10 open reading frame 81 737633 12477932 737633 79949 NM_024889,AL592546,AK027190,AK126354,AK128811,AK292867,BC036365,BC037870 NP_079165,CAI12642,CAI12643,CAI12644,CAI12645,BAB15687,BAC87618,BAF85556,AAH36365,AAH37870,Q5SXH7 Hs.228320 FLJ23537|RP11-211N11.2|bA211N11.2 protein-coding 1352905 C10orf82 chromosome 10 open reading frame 82 737633 16189514,15489334,14702039,12477932 737633 143379 NM_144661,AC016825,CH471066,AK097587,BC021737,BX537582 NP_653262,EAW49444,EAW49445,EAW49446,AAH21737,Q8WW14 Hs.121347 FLJ40268|MGC33547 protein-coding 1316472 C10orf83 chromosome 10 open reading frame 83 737633 17285308,16381901,15489336,12477932,11230166,11076863 737633 118812 NM_001098831,NM_178832,AL355315,CH471066,AJ312050,AJ431726,AK098791,AK289406,AL834132,BC010230,BC022054,BC040015,BC093023,DQ338435,DQ338436 NP_001092301,NP_849154,EAW49908,EAW49909,EAW49910,EAW49911,CAC85055,CAD24475,BAF82095,CAD38849,AAH10230,AAH22054,AAH40015,AAH93023,ABC61705,ABC61706,Q8NDC4,Q8WVZ3,CAL37447,CAL38377 Hs.217409 FLJ25925|RP11-548K23.4|bA548K23.4 protein-coding 1313564 C10orf84 chromosome 10 open reading frame 84 737633 15489334,14702039,12477932 737633 63877 NM_022063,AL365498,CH471066,AK023250,AK026630,BC023577,CR457304,CR591945,CR600950,CR616981 NP_071346,CAI13373,CAI13375,EAW49416,EAW49417,EAW49418,BAB14487,BAB15514,AAH23577,CAG33585,Q5T373,Q5T374,Q5T375,Q6IA51,Q9H8W3 Hs.372309 FLJ13188|RP11-319I23.1|bA319I23.1 protein-coding 1352545 C10orf85 chromosome 10 open reading frame 85 14702039,12477932 404216 Q8N1V8 BC108662,NM_001012711,AC023282,AK094721 BAC04408,AAI08663,Q8N1V8,NP_001012729 Hs.196578 FLJ37402|MGC131689 protein-coding 1312790 C10orf88 chromosome 10 open reading frame 88 737633 15489334,14702039,12477932 737633 80007 NM_024942,AC073585,CH471066,AK023552,BC021705,BC032645,BI821345,CB044034 NP_079218,EAW49297,EAW49298,BAB14609,AAH32645,Q9H8K7 Hs.501286 FLJ13490 protein-coding 1313898 C10orf90 chromosome 10 open reading frame 90 14702039,12477932,15489334,15164054 118611 NM_001004298,AL583860,AL589787,CH471066,AF435960,AK057500,AK093093,AL705062,BC021140,BC034828,CR602784,CR621517 NP_001004298,CAI12407,CAI12408,CAI12409,CAI40678,CAI40679,CAI40680,CAI40684,EAW49200,EAW49201,EAW49202,AAM20911,BAB71512,AAH21140,Q5T024,Q5T025,Q96M02,AAI56059,AAI56942 Hs.587663 FLJ32938|RP11-422P15.2|bA422P15.2 protein-coding 1354177 C10orf91 chromosome 10 open reading frame 91 737633 15489334,15164054,12477932 737633 170393 NM_173541,AL451069,CH471287,BC030794,BE909428 NP_775812,CAI14119,EAW49118,EAW49119,AAH30794,Q5T1B1 Hs.375059 RP11-432J24.4|bA432J24.4 protein-coding 1350822 C10orf92 chromosome 10 open reading frame 92 737633 15489334,15164054,12477932,11230166 737633 54777 NM_017609,AL392043,CH471211,AL122111,BC034223 NP_060079,CAI39948,CAI39949,CAI39950,EAW61309,CAB59272,AAH34223,Q8IYW2 Hs.501570 DKFZp434A1721|RP11-288G11.4|bA288G11.4 protein-coding 1347494 C10orf93 chromosome 10 open reading frame 93 15489334,15164054,14702039,12477932 255352 NM_173572,AL691429,CH471211,AK098820,BC044661,BC146900,BC146908,CR597016 NP_775843,CAI17263,CAI17264,EAW61310,BAC05424,AAH44661,AAI46901,AAI46909,Q5SR76 Hs.375837 RP13-137A17.3|bB137A17.3 protein-coding 1349493 C10orf95 chromosome 10 open reading frame 95 15489334,15164054,14702039,12477932 79946 NM_024886,AL121928,CH471066,AK024342,BC126459 NP_079162,EAW49692,BAB14892,AAI26460,Q9H7T3 Hs.225084 FLJ14280 protein-coding 1346141 C10orf96 chromosome 10 open reading frame 96 737633 12477932 737633 374355 AC011328,CH471066,AJ457798,BC044830,NM_198515 NP_940917,EAW49454,EAW49455,AAH44830 Hs.233407 MGC35062 protein-coding 1320032 C10orf97 chromosome 10 open reading frame 97 C10ORF97 is a member of the caspase-associated recruitment domain (CARD) family of proteins that play a role in apoptosis (Liu et al., 2002 [PubMed 12054670]).[supplied by OMIM] 737633 14702039,12477932,12054670 737633 80013 NM_024948,AL590439,CH471072,AB014761,AF063600,AF176916,AK023459,AL833873,BC020605,BC061585,BC067799,CR457315,CR598815,CR604819,CR606283,CR620518 NP_079224,CAI13817,CAI13818,CAI13819,CAI13820,EAW86233,EAW86234,BAB87802,AAG43159,AAQ13660,BAB14582,CAD38730,AAH20605,AAH61585,AAH67799,CAG33596,Q9H8M7 Hs.590985 CARP|DERP5|FLJ13397|MST126|MSTP126|RP11-394I23.1|my042 protein-coding 1342639 C10orf99 chromosome 10 open reading frame 99 12975309 387695 NM_207373,AC022389,CH471142,AI831407,AW351839,AY358751 NP_997256,EAW80365,EAW80366,AAQ89111,Q6UWK7 Hs.298713 FLJ21763|UNQ1833 protein-coding 1345294 C11orf1 chromosome 11 open reading frame 1 10873569,15489334,14702039,12477932 64776 NM_022761,AP001781,CH471065,AJ250229,AK027152,BC020628,BC036892,CR457378 NP_073598,EAW67160,CAB96538,BAB15674,AAH20628,CAG33659,Q6I9X7,Q9H5F2 Hs.17546 GDB:9476277 FLJ23499 protein-coding 1351820 C11orf10 chromosome 11 open reading frame 10 15489334,12665801,12477932,12427278,11042152 746 NM_014206,AP002380,CH471076,AF070661,AF085986,AF086763,AK291683,BC002750,BC015968 NP_055021,EAW73970,EAW73971,AAD20967,AAF28401,BAF84372,AAH02750,AAH15968,P61165 Hs.437779 GDB:9862823 protein-coding 1347638 C11orf16 chromosome 11 open reading frame 16 16344560,16189514,15489334,12477932,11528127,9373149,8889548,8125298 56673 NM_020643,AC026894,AJ400877,CH471064,AK074455,AK223377,BC027865,CA310676,DA399415 NP_065694,CAB92289,EAW68611,EAW68612,EAW68613,BAD97097,AAH27865,Q53FB2,Q9NQ32 Hs.277349,Hs.698487 GDB:11500451 protein-coding 1315871 C11orf17 chromosome 11 open reading frame 17 15630084,18178962,15489334,14702039,12527432,12477932,11528127 56672 NM_020642,NM_182901,AC026894,AF493786,AJ400877,CH471064,CQ783908,AF493783,AF493784,AF493785,AF512007,AK075308,BC030996 NP_065693,NP_878904,AAM12865,AAM12866,AAM12867,CAB92290,EAW68614,EAW68615,EAW68616,CAF86919,AAM12862,AAM12863,AAM12864,AAM34785,BAC11537,AAH30996,Q9NQ31 Hs.131180 GDB:11500452 AKIP1|BCA3 protein-coding 1348306 C11orf18 chromosome 11 open reading frame 18 11528127 493900 AJ400877 1351540 C11orf2 chromosome 11 open reading frame2 9615229,15498874,15489334,12477932,9286704 738 NM_013265,AP003068,CH471076,AF024631,AL833818,BC006555,BC007198,BC009285,BC010540,BC010872,BC017438,CR606643,CR621135 NP_037397,EAW74347,AAF21627,CAD38681,AAH06555,AAH07198,AAH09285,AAH10540,AAH17438,Q9UID3 Hs.277517 GDB:9476540 ANG2 protein-coding 1354141 C11orf21 chromosome 11 open reading frame 21 11054561 29125 AB029488 GDB:11504794 1323665 C11orf24 chromosome 11 open reading frame 24 15498874,15489334,12975309,12477932,11401438 53838 NM_022338,AP002813,AP002992,CH471076,AF264781,AF370372,AY358754,BC011765,BG701401,CR595092,CR597895,CR600976,CR604388,CR607549,CR615151,CR623094,CR625680 NP_071733,EAW74702,EAW74703,EAW74704,AAG36936,AAQ15208,AAQ89114,AAH11765,Q96F05 Hs.303025 GDB:11500446 DM4E3 protein-coding 1347380 C11orf26 chromosome 11 open reading frame 26 79262 GDB:11504909 1312367 C11orf27 chromosome 11 open reading frame 27 120144 XM_061888 GDB:11504911 1343186 C11orf29 chromosome 11 open reading frame 29 83960 GDB:11504923 1343136 C11orf3 chromosome 11 open reading frame 3 14702039,9615229,9286704 739 AK023941,AK093791 Hs.277517 GDB:9476645 ANG3 protein-coding 1345109 C11orf30 chromosome 11 open reading frame 30 18314909,16615912,16236351,16145051,16029503,15978617,15947784,15489334,15302935,14981236,14702039,14651845,12477932 56946 AP002360,NM_020193,AP003165,CH471076,AF226047,AJ430203,AK023651,AK125114,AK126030,AY070433,BC021688,BC029375,BC033404,BC117265,BG722092,BX647398 NP_064578,EAW74996,EAW74997,EAW74998,EAW74999,EAW75000,AAF86947,CAD22881,BAB14627,AAL65260,AAH29375,AAH33404,AAI17266,Q17RM7,Q7Z589 Hs.352588 EMSY|FLJ90741|GL002|NGEP protein-coding 1354417 C11orf31 chromosome 11 open reading frame 31 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. The exact function of this gene is not known, however, selenoproteins are thought to be responsible for most biomedical effects of dietary selenium. 737633 17526492,17389926,17337453,15489334,12775843,12477932 737633 280636 NM_170746,AP001931,CH471076,AF085883,AF536829,AJ276249,AJ276250,BC021122,BC064570,BX493234 NP_734467,EAW73781,EAW73782,AAN61472,AAH21122,AAH64570,Q6P2E7,Q8IZQ5 Hs.655373 GDB:11505378 C17orf10|SELH protein-coding 1350055 C11orf32 chromosome 11 open reading frame 32 12970790,12477932,8619474 442871 BC040643,U90916 Hs.368592 protein-coding 1343359 C11orf34 chromosome 11 open reading frame 34 18195351,15203209 349633 XM_927535,XM_001718626,XM_938130,AP002884,AY364431,AY364434,AY364435,AY364432,AY364433 XP_932628,XP_001718678,XP_943223,AAQ72434,AAQ72437,AAQ72438,Q6UQ26,Q6UQ28,AAQ72435,AAQ72436 Hs.632097 PLET1 protein-coding 1603159 C11orf35 chromosome 11 open reading frame 35 15489334,12477932 256329 NM_173573,AP006284,CH471158,BC037936,BC039077 NP_775844,EAX02345,EAX02346,AAH39077,Q8IXW0,EAX02347 Hs.669395 MGC35138 protein-coding 1601706 C11orf36 chromosome 11 open reading frame 36 15489334,14702039,12477932 283303 Q2M3A8 BC104973,CH471158,AK093421,AK097749,AY422795,BC104971,NM_173590,AC109309 AAI04972,AAI04974,Q2M3A8,EAX02545,EAX02546,BAC04158,BAC05159,AAR84193,NP_775861 Hs.151154 FLJ36102|HSD-40|MGC132631|MGC132633 protein-coding 1602157 C11orf38 chromosome 11 open reading frame 38 12975309 399967 NM_212555,AP003087,CH471065,AY358105 NP_997720,EAW67663,AAQ88472,Q6UY27 Hs.369185 UNQ3112 protein-coding 1605575 C11orf40 chromosome 11 open reading frame 40 143501 AC090719,NM_144663,CH471064,AF439154 NP_653264,EAW68838,AAL31642,Q8WZ69,AAI52950 Hs.350556 NOV1 protein-coding 1604377 C11orf41 chromosome 11 open reading frame 41 15489334,14702039,12477932,11181995 25758 NM_012194,AL049575,AL049629,CH471064,AK094307,AK124395,BC025668,U10991 NP_036326,EAW68195,BAC85845,AAH25668,AAA21253,Q12914,Q6ZVL6 Hs.502266,Hs.708168 C11orf69|FLJ36988|G2|MGC34830 protein-coding 1602976 C11orf42 chromosome 11 open reading frame 42 15489334,12477932 160298 NM_173525,AC022762,CH471064,BC031612 NP_775796,EAW68741,AAH31612,Q8N5U0 Hs.278221 MGC34805 protein-coding 1601924 C11orf44 chromosome 11 open reading frame 44 14702039 283171 Q8N8P7 NM_173580,AP003486,CH471065,AK096377 NP_775851,EAW67791,BAC04771,Q8N8P7 Hs.376151 FLJ39058 protein-coding 1606680 C11orf45 chromosome 11 open reading frame 45 15489334,12477932 219833 NM_145013,AP000920,CH471065,AK125634,BC025756 NP_659450,EAW67728,EAW67729,EAW67730,AAH25756,Q8TAV5,ABM82570,ABM85759 Hs.351133 FLJ43646|MGC35558 protein-coding 1602076 C11orf46 chromosome 11 open reading frame 46 15489334,14702039,12477932 120534 BC047775,BX647617,NM_152316,AL356440,CH471064,CS300570,AK096287 AAH47775,CAI46092,Q8N8R7,BAC04747,NP_689529,EAW68259,CAK32234 Hs.502208 FLJ38968|dJ299F11.1 protein-coding 1603865 C11orf47 chromosome 11 open reading frame 47 14702039,12477932 283294 NM_173589,AC084337,AK093028,AK096944,BC111765,BX648742 NP_775860,BAC04023,AAI11766,Q2NKK8 Hs.377188 FLJ35709|MGC133191 protein-coding 1604294 C11orf48 chromosome 11 open reading frame 48 17154719,14702039,12477932 79081 NM_024099,AP001458,CH471076,AK055736,AK124145,BC001434,BI831485,CR612336 NP_077004,EAW74052,EAW74053,EAW74054,EAW74055,EAW74056,EAW74057,EAW74058,BAB71001,AAH01434,Q9BQE6 Hs.9061 MGC2477 protein-coding 1604290 C11orf49 chromosome 11 open reading frame 49 16713569,16381901,16189514,15489336,15489334,14702039,12477932,11230166,11076863,8889548 79096 NM_001003678,NM_001003676,NM_001003677,NM_024113,AC021573,AC090470,AC090589,AC103792,CH471064,AK025863,AL136575,BC001860,BC009455,BC013988,BC052291,BQ428072,BU728094,CR457351,CR592241,CR594959,CR598117,CR599376,CR600987,CR604751,CR605648,CR610217,CR618684,CR619964,CR624053,CR626306 NP_001003678,NP_001003676,NP_001003677,NP_077018,EAW67969,EAW67970,EAW67971,EAW67972,EAW67973,BAB15262,CAB66510,AAH01860,AAH09455,AAH13988,AAH52291,CAG33632,Q9H6J7,CAL38461,CAL38682 Hs.368296 FLJ22210|MGC4707 protein-coding 1601769 C11orf51 chromosome 11 open reading frame 51 11256614,15489334,12477932,11230166,11042152,9373149,8125298 25906 NM_014042,AP000812,CH471076,AF077206,AK222622,AL080071,BC005156,BC005393,CR603805 NP_054761,EAW74838,EAW74839,EAW74840,EAW74841,EAW74842,AAD27001,CAB45698,AAH05156,AAH05393,P60006,Q53HF8 Hs.38044 DKFZP564M082|HSPC020 protein-coding 1604761 C11orf52 chromosome 11 open reading frame 52 15489334,14702039,12477932 91894 NM_080659,AP000907,CH471065,AK057948,BC008501,BC110872,BQ102454 NP_542390,EAW67170,BAB71620,AAH08501,AAI10873,Q96A22 Hs.97013 FLJ25219|MGC131888|MGC14839 protein-coding 1605809 C11orf53 chromosome 11 open reading frame 53 15489334,12477932 341032 Q8IXP5 NM_198498,AP002448,CH471065,BC039669 NP_940900,EAW67135,AAH39669,Q8IXP5 Hs.298685 MGC50104 protein-coding 1603055 C11orf54 chromosome 11 open reading frame 54 16522806,16189514,15498874,15489334,12477932,11256614,11230166,9373149,8125298 28970 NM_014039,AP001273,CH471065,AF092133,AK129932,AK225977,AK291833,AK292215,AL136605,AY203960,BC007110,BC012298,BC046477,CR533538,CR603554,CR624225 NP_054758,EAW66915,EAW66916,EAW66917,EAW66918,EAW66919,AAD40375,BAF84522,BAF84904,CAB66540,AAP34483,AAH07110,AAH12298,CAG38569,Q9H0W9 Hs.8360 PTD012 protein-coding 1604913 C11orf55 chromosome 11 open reading frame 55 14702039 399879 NM_207428,AC087277,AK127155 NP_997311,BAC86858,Q6ZST8 Hs.99443 FLJ45212 protein-coding 1604775 C11orf56 chromosome 11 open reading frame 56 16381901,16344560,16189514,15489336,15489334,14702039,12477932,11256614,11230166,11214970,11076863 84067 AC022762,CH471064,AB051546,AK056468,AK291702,AL136723,BC030825,DA389621,NM_032127,NM_001098794 EAW68737,EAW68738,EAW68739,EAW68740,BAB21850,BAF84391,CAB66657,AAH30825,Q0JUZ2,Q8N612,CAL37668,NP_115503,NP_001092264 Hs.501793 DKFZP566M1046|FLJ22665|KIAA1759 protein-coding 1605379 C11orf57 chromosome 11 open reading frame 57 17213182,17207965,15489334,14702039,12477932,8889548 55216 BC072455,BG115155,BM670479,BX538107,CD706604,DT220380,EL736728,NM_018195,NM_001082970,NM_001082969,AP000907,AP002007,CH471065,AB096251,AK001588,AK094203,AK125340,BC005403,BC030546,BC048133 AAH72455,CAD98020,Q6ZUT1,Q9NVH7,NP_060665,NP_001076439,NP_001076438,EAW67178,EAW67179,BAA91774,BAC86137,AAH05403,AAH30546,AAH48133 Hs.195060 FLJ10726 protein-coding 1605695 C11orf58 chromosome 11 open reading frame 58 9263035,17081983,16094384,15592455,15489334,14702039,12477932 10944 AK094549,BC007103,BC016352,BC020937,BC103747,CR456882,CR592723,CR600300,CR602558,CR602799,CR606236,CR614521,CR614900,CR616149,CR623569,U51678,AK057169,AK093998,NM_014267,AC026639,CH471064 AAH07103,AAH16352,AAH20937,AAI03748,CAG33163,AAB99729,O00193,NP_055082,EAW68455,EAW68456,EAW68457 Hs.546339 IMAGE145052|MGC117265|SMAP protein-coding 1605997 C11orf59 chromosome 11 open reading frame 59 15592455,15498874,15489334,14702039,12477932,12358155 55004 NM_017907,AP000812,CH471076,AF289583,AK000632,BC001706,CR457247,CR595901,CR597246,CR601471,CR609270,CR609345,CR610683,CR610955,CR613122,CR615692,CR619743,CR623336,CR624050,CR626401 NP_060377,EAW74836,EAW74837,AAL55767,BAA91297,AAH01706,CAG33528,Q6IAA8 Hs.530753 FLJ20625 protein-coding 1353268 C11orf6 chromosome 11 open reading frame 6 9286704 742 GDB:9477134 1604332 C11orf60 chromosome 11 open reading frame 60 11256614,10873569,16381901,15489336,15489334,12477932,11230166,11076863 56912 CR610960,CR613135,CR617203,CR617874,CR625012,NM_020153,AP000941,CH471065,AJ249980,AK025480,AK289521,AL136934,BC011647,BC012802,BC022856,CR457344,CR600708,CR605306,CR607003 Q0JSE9,Q9H6V5,Q9NQC8,CAL37908,CAL38565,NP_064538,EAW67394,EAW67395,EAW67396,CAB96537,BAB15146,BAF82210,CAB66868,AAH11647,AAH12802,AAH22856,CAG33625 Hs.533738 C11orf2|FLJ21827 protein-coding 1606219 C11orf61 chromosome 11 open reading frame 61 15489334,14702039,12477932 79684 AP000866,NM_024631,CH471065,AK026995,AK092413,AL512691,BC064919 NP_078907,EAW67600,EAW67601,BAB15618,CAC21648,AAH64919,Q6P1R3 Hs.146079 FLJ23342 protein-coding 1605626 C11orf63 chromosome 11 open reading frame 63 14702039,15489334,12477932 79864 NM_024806,NM_199124,AP003040,AP004318,CH471065,AK027207,AK097534,AK291625,BC009820,BC068507,BU069407,CD244380 NP_079082,NP_954575,EAW67533,EAW67534,EAW67535,EAW67536,BAB15691,BAF84314,AAH09820,AAH68507,Q6NUN7 Hs.164705 FLJ23554 protein-coding 1603171 C11orf65 chromosome 11 open reading frame 65 16344560,16189514,15489334,12477932 160140 NM_152587,AP005718,CH471065,BC029536,DB104722 NP_689800,EAW67116,EAW67117,EAW67118,AAH29536,Q8NCR3 Hs.653180 MGC33948 protein-coding 735928 C11orf66 chromosome 11 open reading frame 66 15489334,14702039,12477932 220004 NM_145017,AP003108,AK057333,BC043246,BC053995 NP_659454,BAB71432,AAH43246,AAH53995,Q7Z5V6 Hs.502726 FLJ32771|IIIG9 iiig9 protein protein-coding 1603054 C11orf67 chromosome 11 open reading frame 67 15489334,14702039,12477932 28971 NM_024684,AP000580,AP002812,CH471076,AF092136,AK024688,BC002752,BC016854,CR457332 NP_078960,EAW75036,EAW75037,EAW75038,EAW75039,AAD40378,BAB14963,AAH02752,AAH16854,CAG33613,Q9H7C9 Hs.503357 FLJ21035|MGC3367|PTD015 protein-coding 1602858 C11orf68 chromosome 11 open reading frame 68 16511166,16189514,15489334,12477932 83638 NM_031450,AP006287,CH471076,AF073483,BC004414,BC010512,BC013185,CR594297,CR595046,CR604272,CR607649,CR609409,CR620048,CR625973 NP_113638,EAW74470,EAW74471,AAG43171,AAH04414,AAH10512,AAH13185,Q9H3H3 Hs.433573 Bles03|P5326 protein-coding 1602657 C11orf69 chromosome 11 open reading frame 69 15489334,14702039,12477932 120196 Q8TAY4 NM_152314,AL049629,CH471064,AK094307,BC025668 NP_689527,EAW68195,AAH25668,Q8TAY4 Hs.22270 MGC34830 protein-coding 1605606 C11orf70 chromosome 11 open reading frame 70 15489334,14702039,12477932 85016 NM_032930,AP001527,CH471065,AK094851,BC006128,BC054869,CR603911 NP_116319,EAW67009,EAW67010,AAH06128,AAH54869,Q7Z2V0,Q9BRQ4 Hs.98328 MGC13040 protein-coding 1604001 C11orf71 chromosome 11 open reading frame 71 15489334,14702039,12477932 54494 NM_019021,AP002373,CH471065,AK000017,BC009041,BC071695,CR457222,CR597454 NP_061894,EAW67245,BAA90886,AAH09041,AAH71695,CAG33503,Q6IPW1 Hs.91816 FLJ20010 protein-coding 1601925 C11orf72 chromosome 11 open reading frame 72 15489334,14702039,12477932 283135 Q8NBR9 NM_173578,AP003385,CH471076,CQ783922,AK075315,BC104448,BC104449 NP_775849,EAW74651,CAF86926,BAC11541,AAI04449,AAI04450,Q8NBR9 Hs.382074 FLJ90834|MGC129824|MGC129825 protein-coding 1604822 C11orf73 chromosome 11 open reading frame 73 15489334,14702039,12477932,11042152,9373149 51501 NM_016401,AP001148,CH471076,AF151082,AF161487,AF161527,AK001447,AK223198,BC001677,BC006476,BC015991,BC018080,BC021621,CR592099,CR597617,CR606835 NP_057485,EAW75133,EAW75134,EAW75135,EAW75136,EAW75137,AAF36168,AAF29102,AAF29142,BAA91698,BAD96918,AAH01677,AAH06476,AAH15991,AAH18080,AAH21621,Q53FT3,ABM83657,ABM86903 Hs.283322 HSPC138|HSPC179|L7RN6 protein-coding 1603277 C11orf74 chromosome 11 open reading frame 74 14702039,12477932 119710 NM_138787,NG_007573,AC139427,CH471064,AK095997,AK290833,BC009561,BC051031,CR612900,CR618125,DQ121386 NP_620142,EAW68112,EAW68113,EAW68114,EAW68115,EAW68116,BAF83522,AAH09561,AAH51031,AAZ29248,Q86VG3 Hs.406726 FLJ38678 protein-coding 1601987 C11orf75 chromosome 11 open reading frame 75 10863097,15489334,12477932 56935 NM_020179,AP003499,AP004242,CH471065,AF197137,BC031564 NP_064564,EAW66901,EAW66902,EAW66903,EAW66904,EAW66905,AAF86046,AAH31564,Q9NRQ5 Hs.438064 FN5 protein-coding 1601808 C11orf77 chromosome 11 open reading frame 77 15489334,14702039,12477932 283254 NM_173811,AC127035,CH471064,AK057237,BC036925 NP_776172,EAW67992,EAW67993,EAW67994,BAB71391,AAH36925,Q96MB7 Hs.127403 FLJ32675 protein-coding 1606278 C11orf79 chromosome 11 open reading frame 79 16169070,12477932 54949 NM_017841,AP003108,CH471076,AK000494,BC002331,CR593424,CR594044,CR601837,CR609950,CR616531,CR618472,CR624478 NP_060311,EAW73951,BAA91204,AAH02331,Q9NX18 Hs.313247 FLJ20487 protein-coding 1605958 C11orf80 chromosome 11 open reading frame 80 12477932,9373149 79703 NM_024650,AP000485,AP001157,CH471076,AK026184,AK225435,BC028240,BE676873,BI559574,CR597582,CR602609,CR626111 NP_078926,EAW74562,EAW74563,BAB15387,AAH28240,Q8N6T0 Hs.292088 FLJ22531 protein-coding 1625825 C11orf81 chromosome 11 open reading frame 81 100073348 AK124467,AK124948 BAC85857,BAC86004,Q6ZV59,Q6ZVK4 Hs.595642,Hs.595659 FLJ42958 protein-coding 1602966 C11orf82 chromosome 11 open reading frame 82 14702039,12477932 220042 NM_145018,AP001646,CH471076,AK023998,AK058145,AK096157,AK292399,BC039268,CR613676 NP_659455,EAW75077,BAB14764,BAB71685,BAF85088,AAH39268,Q8IXT1 Hs.165607 FLJ13936|FLJ25416|FLJ38838 protein-coding 1315345 C11orf9 chromosome 11 open reading frame 9 12477932,10828591,10231032,9615227 745 NM_013279,NM_001127392,AC004770,AP002380,CH471076,AB023171,AF038536,AF086762,BC004938,BC020196 Q9Y2G1,O60428,AAI52732,Q9BSN2,AAI56715,NP_037411,NP_001120864,AAC23395,EAW73963,EAW73964,EAW73965,EAW73966,EAW73967,EAW73968,BAA76798,AAB92668,AAF28400,AAH04938,AAH20196,O43582 Hs.473109 GDB:9862821 KIAA0954|MGC10781 protein-coding 1350875 C12orf10 chromosome 12 open reading frame 10 12477932,16996721,15146197 60314 NM_021640,AC073611,CH471054,AA972697,AF111805,AF289485,BC013956,BC028904,BC051871,BM551107,CN308888,CR614390,CR626228 NP_067653,EAW96687,EAW96688,EAW96689,EAW96690,AAL39007,AAG17847,AAH13956,AAH28904,AAH51871,Q86UA3,Q8WYI2,Q96CT6,Q9HB07 Hs.655988 GDB:11505346 MST024|MSTP024|MYG|MYG1 protein-coding 1342865 C12orf11 chromosome 12 open reading frame 11 17081983,16344560,16189514,15489334,14702039,12601173,12477932,12414650,9373149,8889548,8125298 55726 NM_018164,AC024093,CH471094,AF274950,AK001222,AK001492,AK001499,AK225336,AL137401,AY211927,BC003081,BC008368,BM684866,CR612853,DB239903 NP_060634,EAW96538,EAW96539,AAK07527,BAA91565,BAA91721,BAA91725,CAB70726,AAO65180,AAH03081,AAH08368,Q9BZT6,Q9NVM9,Q9NW22 Hs.505077 FLJ10630|FLJ10637 protein-coding 1606687 C12orf12 chromosome 12 open reading frame 12 16189514,12477932 196477 NM_152638,AC078873,CH471054,BC024183,BC026075,BC027600,BC034491 NP_689851,EAW97443,AAH24183,AAH26075,AAH27600,AAH34491,Q8TC90 Hs.128574 MGC26598 protein-coding 1351175 C12orf15 chromosome 12 open reading frame 15 404282 1602311 C12orf23 chromosome 12 open reading frame 23 15489334,14702039,12477932 90488 NM_152261,AC007541,CH471054,AK001731,AK021783,AK022770,AK024021,BC020522,CR591522 NP_689474,EAW97790,EAW97791,AAH20522,Q8WUH6 Hs.257664 FLJ11721|FLJ13959|MGC17943 protein-coding 1607038 C12orf24 chromosome 12 open reading frame 24 16344560,12477932,9373149,9110174,8619474 29902 NM_013300,AC002350,CH471054,AK225731,AU129789,BC020967,BF114636,CR457001,CR595487,CR602160,CR622888,CR622941,CR623239,CR623722,U79274 NP_037432,EAW97915,EAW97916,EAW97917,AAH20967,CAG33282,AAB50215,Q8WUB2,ABM82726,ABM85910 Hs.436618 HSU79274 protein-coding 1604773 C12orf25 chromosome 12 open reading frame 25 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 84070 NM_032130,AC020612,CH471111,AK093242,AL136748,AL713673,BC035621 NP_115506,EAW58082,EAW58083,CAB66682,CAD28479,AAH35621,Q0JTC0,Q8IYM0,CAL38243 Hs.524406 DKFZP434J0113|DKFZp434N2350 protein-coding 1602087 C12orf26 chromosome 12 open reading frame 26 15489334,14702039,12477932 84190 NM_032230,AC083811,AC089998,CH471054,AK026442,BC029120 NP_115606,EAW97381,EAW97382,BAB15484,AAH29120,Q8N6Q8 Hs.506222 FLJ22789 protein-coding 1603347 C12orf27 chromosome 12 open reading frame 27 14702039 283460 XM_001724167,XM_001721049,XM_001726598,AC079602,CH471054,AK096009 XP_001724219,XP_001721101,XP_001726650,EAW98225,BAC04671,Q8N8Z0 Hs.612351 FLJ38690 protein-coding 1603259 C12orf28 chromosome 12 open reading frame 28 15489334,14702039,12477932 196446 XM_001718908,XM_001716650,XM_001718058,AC025263,AC078922,CH471054,AK057785,BC101820 XP_001718960,XP_001716702,XP_001718110,EAW97243,BAB71571,AAI01821,Q96LU7 Hs.253773 FLJ25056|MGC126869 protein-coding 1606480 C12orf29 chromosome 12 open reading frame 29 16381901,15489336,14702039,12477932,11230166,11076863 91298 BX648026,CR936776,NM_001009894,AC091516,CH471054,AK095477,AL049382,AL137488,BC035136,BC058014,BC092422,BX537868,BX640968 CAH10541,Q8N999,CAL37802,NP_001009894,EAW97409,EAW97410,EAW97411,EAW97412,BAC04555,CAB70767,AAH35136,AAH58014,AAH92422,CAD97870,CAE45983 Hs.591009 DKFZp313K0436|DKFZp434N2030|DKFZp686L04169|FLJ38158|MGC102978 protein-coding 1605042 C12orf30 chromosome 12 open reading frame 30 17353931,14702039,12477932 80018 NM_024953,AC073575,CH471054,AA653507,AB054990,AK023151,AK292485,AL832394,AV760516,BC034357,BC047640,BC065481,BC095484,BC113585,BC113587,BX641140,BX647450,BX647992,CR590884,CR605595 NP_079229,EAW97993,EAW97994,BAC80174,BAB14432,BAF85174,AAH34357,AAI13586,AAI13588,CAE46062,Q14CX7 Hs.530941 DKFZp667K2112|FLJ13089 protein-coding 1604260 C12orf31 chromosome 12 open reading frame 31 16189514,15489334,14702039,12477932 84298 NM_032338,AC078927,CH471054,CS300557,AK057947,AK091568,BC006002,BC070232,BC107780,CR600894 NP_115714,EAW97155,EAW97156,CAK32221,BAC03699,AAH06002,AAH70232,AAI07781,Q9BRT6 Hs.504820 MGC104302|MGC14817 protein-coding 1602857 C12orf32 chromosome 12 open reading frame 32 15489334,15221005,14702039,12477932,11414747 83695 NM_031465,AC005911,AF386144,AF386429,AF386459,CH471116,AB063884,AB066915,AB066993,AB067019,AB067123,AB073599,AK021945,BC000079,BC005106,CR595083,CR600164,CR602379,CR606868,CR613904,CR616209,CR623393 NP_113653,AAM46246,AAM46518,AAM46547,EAW88879,BAC01512,BAC01953,BAC02031,BAC02057,BAC02161,BAD38639,AAH05106,Q9BSD3 Hs.198853,Hs.539824,Hs.551925,Hs.620437,Hs.644804 HKMT1188|MGC13204 protein-coding 1605921 C12orf34 chromosome 12 open reading frame 34 15489334,14702039,12477932 84915 NM_032829,AC007834,CH471054,AK027627,AK074806,BC007844,BC020193,BC037221,CR626164 NP_116218,EAW97874,EAW97875,BAB55244,BAC11219,AAH37221,Q5U5X8 Hs.661785 FLJ14721 protein-coding 1605655 C12orf35 chromosome 12 open reading frame 35 14702039,12477932,10997877,8889548,12421765 55196 NM_018169,AC016957,AC023050,CH471116,AB046771,AK000688,AK000703,AK001514,AK092399,AV750733,BC098115,BC114509,BC114956,BC140819,BM711484,CA419041,CR626331 NP_060639,EAW88537,EAW88538,BAB13377,BAA91330,BAA91734,AAH98115,AAI14510,AAI14957,AAI40820,Q9HCM1 Hs.445129 FLJ10652|FLJ20696 protein-coding 1606927 C12orf36 chromosome 12 open reading frame 36 15489334,14702039,12477932 283422 NM_182558,AC022276,CH471094,AK091129,BC101220,BC101221,BC101222,BC101223 NP_872364,EAW96307,BAC03590,AAI01221,AAI01222,AAI01223,AAI01224,Q495D7 Hs.448717 FLJ33810|MGC120140 protein-coding 1602615 C12orf37 chromosome 12 open reading frame 37 439916 AC078873,AC123024,AC123025,AK058107,XM_001134418,XM_001134426 XP_001134426,BAB71669,Q96LM1,XP_001134418 Hs.350600 FLJ25378 protein-coding 1606773 C12orf39 chromosome 12 open reading frame 39 16303743,15489334,14702039,12477932 80763 NM_030572,AC006559,CH471094,CS051133,AK027273,AK075342,BC004336 NP_085049,EAW96444,EAW96445,CAI72062,AAH04336,Q9BT56 Hs.130692 MGC10946 protein-coding 1322478 C12orf4 chromosome 12 open reading frame 4 15489334,12477932,11062477 57102 NM_020374,AC005832,AC008012,AC092826,CH471116,AJ272205,AK024811,AK074479,AL834377,BC016908,BX641128 NP_065107,EAW88845,EAW88846,CAC01126,CAD39040,AAH16908,CAE46058,Q9NQ89 Hs.302977 GDB:11510640 FLJ21158|FLJ23899 protein-coding 1606924 C12orf40 chromosome 12 open reading frame 40 14702039,12477932 283461 NM_001031748,AC121336,AC125491,CH471111,AK097445,AL705293,BC038754,BC048120,BI461967 NP_001026918,EAW57808,EAW57809,EAW57810,BAC05057,AAH38754,AAH48120,Q86WS4,Q8IXY6,Q8N818 Hs.648205 FLJ40126 protein-coding 1606280 C12orf41 chromosome 12 open reading frame 41 17081983,16344560,15489334,15302935,14702039,14637001,12477932,8889548 54934 NM_017822,AC079951,CH471111,AK000443,AK022732,AK094528,AL834467,BC009746,BC013900,BG760446,BM672156,CR606255,CR616133,CR617830,DA278834 NP_060292,EAW57991,EAW57992,EAW57993,EAW57994,EAW57995,EAW57996,BAA91169,BAB14211,CAD39126,AAH09746,AAH13900,Q9H9L4 Hs.505412 FLJ12670|FLJ20436 protein-coding 1606876 C12orf42 chromosome 12 open reading frame 42 16344560,15489334,14702039,12477932 374470 NM_001099336,NM_198521,AC084364,AC090000,AC126176,CH471054,AA992269,AK058052,BC039352,BC044617,BC117392,BC117394,BI830750,DB027973,DB045383 NP_001092806,NP_940923,EAW97704,EAW97705,EAW97706,EAW97707,EAW97708,EAW97709,BAB71641,AAH39352,AAH44617,AAI17393,AAI17395,Q96LP6 Hs.534649 FLJ25323|MGC43592|MGC57409 protein-coding 1603965 C12orf43 chromosome 12 open reading frame 43 17081983,15489334,14702039,12477932,9373149,9110174,8619474,8125298 64897 NM_022895,AC079602,CH471054,AK022510,AK222630,AK225162,BC014661,CR604606,CR618697 NP_075046,EAW98229,EAW98230,EAW98231,EAW98232,EAW98233,BAB14068,BAD96350,AAH14661,Q96C57 Hs.528671 FLJ12448 protein-coding 1602213 C12orf44 chromosome 12 open reading frame 44 15342556,14702039,12477932 60673 NM_021934,NM_001098673,AC025259,CH471111,AF218031,AK021835,BC005151,BC009937,BP309508,CB137838,CR597986,CR599287 NP_068753,NP_001092143,EAW58229,EAW58230,AAG17273,BAB13907,AAH05151,AAH09937,Q9BSB4 Hs.9911 FLJ11773 protein-coding 1606744 C12orf45 chromosome 12 open reading frame 45 15489334,12477932 121053 NM_152318,AC090051,CH471054,BC032326,BG829346 NP_689531,EAW97754,AAH32326,Q8N5I9,ABM82575,ABM85764 Hs.295563 MGC40397 protein-coding 2292059 C12orf47 chromosome 12 open reading frame 47 14702039,12477932 51275 XR_017874,XR_017973,AC003029,CH471054,AF229831,AK096935,BC007973,BC015633,BC023547,BC032560,CR620831 EAW97977,EAW97978,AAF42916,BAC04904,Q8N8E1,Q9NYS5 Hs.333120 FLJ39616 miscrna 1605996 C12orf48 chromosome 12 open reading frame 48 15489334,14702039,12477932 55010 AC079907,AC087882,CH471054,AF274940,AK000648,BC014313,BC018903,BC030962,BC050696,BC070270,BC098297,BC098313,BC099734,BC099844,NM_017915 NP_060385,EAW97690,EAW97691,EAW97692,AAK07517,BAA91306,AAH18903,AAH30962,AAH50696,AAH70270,AAH98313,AAH99734,AAH99844,Q9BZU5,Q9NWS1 Hs.330663 FLJ20641 protein-coding 1602859 C12orf49 chromosome 12 open reading frame 49 12477932,9373149 79794 NM_024738,AC090013,AC125603,CH471054,AK025068,AK222983,BC019843,CR625981 NP_079014,EAW98088,EAW98089,BAB15058,BAD96703,AAH19843,Q9H741 Hs.592011 FLJ21415 protein-coding 1317526 C12orf5 chromosome 12 open reading frame 5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. 11256614,16839880,16839873,16381901,16140933,16012775,15489336,15489334,12477932,11076863,11062477 57103 NM_020375,AC006122,AC008012,CH471116,AJ272206,AY425618,BC012340,BX098281,CR613889,DB480618 NP_065108,EAW88849,EAW88850,CAC01127,AAQ98969,AAH12340,Q0JVG7,Q9NQ88,CAL37493 Hs.504545 GDB:11510642 TIGAR protein-coding 1605567 C12orf50 chromosome 12 open reading frame 50 14702039,12477932 160419 NM_152589,AC090060,AC091516,CH471054,AK093140,AL833338,BC038413,BC062424 NP_689802,EAW97406,EAW97407,EAW97408,BAC04071,AAH38413,AAH62424,Q8NA57 Hs.112930 FLJ35821 protein-coding 1606926 C12orf51 chromosome 12 open reading frame 51 14702039,12477932,9734811 283450 NM_001109662,AC004031,AC004217,AC073575,CH471054,AB014514,AF174498,AK001372,AK054654,AK054770,AK091473,AL117469,BC006270,BC021144,BC065706,BC101482 NP_001103132,EAW97998,EAW97999,EAW98000,BAA31589,AAF36539,BAB70783,BAC03671,CAB55944,AAH06270,AAH21144,AAH65706,AAI01483,Q3MJD5,Q7L530,Q8WU73,Q96NT9,Q9NZS4,Q9UFT6,Q9Y4D8 Hs.379848,Hs.695995 DKFZp586O1022|FLJ10510|FLJ30092|FLJ30208|FLJ34154|KIAA0614|MGC126531 protein-coding 1602853 C12orf52 chromosome 12 open reading frame 52 14702039,12477932,9373149,9110174,8619474 84934 NM_032848,AC089999,CH471054,AK027733,AK027741,AK075358,AK123762,AK222908,AY007158,BC022092,CR594289,CR595506,CR596541,CR597629,CR600183,CR605763,CR606890,CR608011,CR617377,CR621332,CR621376,CR622111,CR622791,CR625812 NP_116237,EAW98041,EAW98042,BAB55328,BAB55333,BAC11568,BAD96628,AAH22092,Q96K30 Hs.524762 FLJ14827 protein-coding 1606434 C12orf53 chromosome 12 open reading frame 53 14702039,12975309,12477932 196500 NM_153685,AC125494,CH471116,AK056295,AK091596,AK091656,AK095854,AK289648,AL831874,AY358534,BC035736 NP_710152,EAW88750,EAW88751,EAW88752,EAW88753,EAW88754,BAF82337,AAQ88898,AAH35736,Q8IYJ0 Hs.44067 DKFZp547D2210 protein-coding 1606175 C12orf54 chromosome 12 open reading frame 54 15489334,12477932 121273 NM_152319,AC089987,CH471111,AY255793,AY255794,BC031670 Q6X4T0,NP_689532,EAW57984,EAW57985,EAW57986,AAP15250,AAP15251,AAH31670 Hs.98202 HSD-29|HSD-30|MGC35033 protein-coding 1603180 C12orf55 chromosome 12 open reading frame 55 14702039 144535 XM_001715090,XM_001131723,XM_001717983,AK056076,AC008118,AC007513 XP_001715142,XP_001131723,XP_001718035,BAB71089,Q96N23 Hs.535389 FLJ31514 protein-coding 1603368 C12orf56 chromosome 12 open reading frame 56 12477932 115749 NM_001099676,AC012158,AC135279,BC014352,BC015121,BC039369 NP_001093146,AAH39369,Q8IXR9 Hs.535190 protein-coding 1606749 C12orf57 chromosome 12 open reading frame 57 15489334,12477932,9445485,9074930 113246 NM_138425,CH471116,U47924,BC009925,CR620372 NP_612434,EAW88705,AAB51329,AAH09925,Q99622 Hs.591045 C10|GRCC10 protein-coding 1606983 C12orf59 chromosome 12 open reading frame 59 16344560,14702039,12975309,12477932 120939 NM_153022,AC115676,CH471094,AK055728,AY358845,BC098571,BC131523,BE301029,CR623668,DA621425 NP_694567,EAW96162,EAW96163,BAB70998,AAQ89204,AAH98571,AAI31524,Q4KMG9 Hs.226422 FLJ31166|MGC111385 protein-coding 1606152 C12orf60 chromosome 12 open reading frame 60 15489334,12477932 144608 NM_175874,AC007655,CH471094,AK289942,BC015546,BC029443,BC038836,CR592987 NP_787070,EAW96330,BAF82631,AAH15546,AAH29443,AAH38836,Q5U649 Hs.659951 MGC47869 protein-coding 1606929 C12orf61 chromosome 12 open reading frame 61 12477932 283416 NM_175895,AC026115,AC048341,CH471054,AK098456,BC038738,BC136288 NP_787091,EAW97110,BAC05309,AAH38738,AAI36289,Q8N7H1 Hs.375881 FLJ25590 protein-coding 1602844 C12orf62 chromosome 12 open reading frame 62 15489334,12477932 84987 NM_032901,AC025154,AC074032,CH471111,BC007849 NP_116290,EAW58130,AAH07849,Q96I36 Hs.388645 MGC14288 protein-coding 1603337 C12orf63 chromosome 12 open reading frame 63 16344560,14702039 374467 NM_198520,AC007564,AC008118,CH471054,AK126100,DB225896 NP_940922,EAW97575,BAC86439,Q6ZTY8,AAI48604,AAI53168 Hs.436197 FLJ44112 protein-coding 1603526 C12orf64 chromosome 12 open reading frame 64 14702039,12477932 283310 NM_173591,AC078817,AC083812,AC092945,CH471054,AK075060,AK096852,BC101016,BC101017,BC101018 NP_775862,EAW97362,EAW97363,BAC11376,BAC04877,AAI01017,AAI01018,AAI01019,Q3ZCN5 Hs.355145 FLJ90579|MGC119410 protein-coding 1605601 C12orf65 chromosome 12 open reading frame 65 14702039,12477932 91574 NM_152269,AC068768,AC073857,CH471054,AF061733,AK025908,AK095982,BC018145,BC020885,BC062329,CR612064 NP_689482,EAW98395,EAW98396,AAG43144,BAC04665,AAH18145,Q9H3J6,AAH20885,AAH62329,Q8WUC6 Hs.319128 FLJ38663 protein-coding 1348423 C12orf9 chromosome 12 open reading frame 9 12063392 93669 AF393503 1315052 C13orf1 chromosome 13 open reading frame 1 16344560,16341674,15489334,15057823,12665801,12477932,12010815,11771308,11306461,9110174,8619474 57213 NM_020456,NM_001127482,NR_023351,AL136123,CH471075,AF052154,AF055016,AF334405,AK290576,BC007076,BC022519,BM828692,CR603490,CR614894,DA388141,DN992366 NP_065189,NP_001120954,CAH71578,EAX08840,EAX08841,EAX08842,EAX08843,AAC09363,AAK38371,BAF83265,AAH22519,Q5W111 Hs.44235 GDB:11510644 CLLD6 protein-coding 733140 C13orf15 chromosome 13 open reading frame 15 This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. 9756947,17146433,17081983,15932515,15713436,15591621,15489334,15057823,14702039,12477932,11687586,8889548 28984 NM_014059,AL354833,CH471075,AF036549,AK091099,AK095079,BC066334,BU679672,DB451897 NP_054778,CAC13101,EAX08663,EAX08664,AAF04336,AAH66334,Q9H4X1 Hs.507866 KIAA0564|MGC87338|RGC-32|RGC32|bA157L14.2 rgc32 protein protein-coding 1345368 C13orf15 chromosome 13 open reading frame 15 404760 1353968 C13orf16 chromosome 13 open reading frame 16 15489334,15057823,12477932 121793 NM_152324,AL160395,CH471085,BC029889 NP_689537,CAH74150,EAX09151,EAX09152,AAH29889,Q8N6K0 Hs.210677 MGC35169|bA474D23.1 protein-coding 1312654 C13orf18 chromosome 13 open reading frame 18 16344560,15489334,15057823,14702039,12766061,8889548,12477932 80183 NM_025113,AL139801,CH471075,AK025215,AK093073,AK125750,AK125950,AK293034,BC004495,BC021097,BC032311,BC043488,BG054617,BM682058,BX401854,BX641126,CD679213,CR590165,DB151884,DB152553,DC330997 NP_079389,CAH71680,CAH71682,CAH71683,EAX08762,EAX08763,EAX08764,BAB15086,BAC86358,BAF85723,AAH04495,AAH21097,AAH32311,AAH43488,Q5W049,Q5W050,Q5W052,Q5W053,Q6ZU68,Q9H714 Hs.98117 FLJ21562|FLJ43762 protein-coding 1319730 C13orf23 chromosome 13 open reading frame 23 16344560,15489334,15057823,14702039,12477932 80209 NM_170719,NM_025138,AL445590,CH471075,AA598728,AB107354,AK022723,AK024308,AK074360,AL522407,AL833854,AL834435,BC042652,BC053566,BC064348,BX647471,CR592489,DA106195,DA786460,DR001207 NP_733837,NP_079414,CAI40974,CAI40975,CAI40976,EAX08610,EAX08611,BAC67659,BAB14204,CAD38713,CAD39095,AAH53566,AAH64348,CAH56138,Q5JS36,Q86XN7 Hs.318526 FLJ12661|FLJ23780|RP11-50D16.2|bA50D16.2 protein-coding 1603922 C13orf26 chromosome 13 open reading frame 26 15489334,15057823,12477932 122046 NM_152325,AL353680,CH471075,BC030277 NP_689538,CAH71735,EAX08475,AAH30277,Q8N6G2 Hs.124463 MGC40178 protein-coding 1605014 C13orf27 chromosome 13 open reading frame 27 15489334,15057823,12477932,9110174,8619474 93081 NM_138779,AL157769,CH471085,AF070559,BC015148,BC048011,CR611685,CR614484 NP_620134,CAI14521,CAI14522,CAI14523,CAI14524,EAX09064,EAX09065,EAX09066,AAH15148,Q5JUR7 Hs.398111 protein-coding 1606982 C13orf28 chromosome 13 open reading frame 28 15489334,15057823,12477932 122258 NM_145248,AL160033,CH471085,AK130866,BC016750,CR594241 NP_660291,CAI14451,CAI14452,CAI14453,CAI14454,EAX09162,AAH16750,Q96KW9 Hs.97592 FLJ27356 protein-coding 1316254 C13orf3 chromosome 13 open reading frame 3 16565220,15592455,15489334,15144186,15057823,14702039,12477932 221150 NM_145061,AL158032,CH471075,AF361358,AK090584,BC013418,BC048988,BI460315,CR603666,CR625062 NP_659498,CAH69950,EAX08293,EAX08294,EAX08295,AAO13796,BAC03484,AAH13418,AAH48988,Q8IX90 Hs.88523 MGC4832|RAMA1 protein-coding 1605573 C13orf30 chromosome 13 open reading frame 30 15489334,14702039,12477932 144809 BC093659,BC112237,NM_182508,AL137138,AL138819,CH471075,AK098238 BAC05268,AAH93659,AAI12238,Q8N7L0,NP_872314,EAX08682 Hs.16970 FLJ40919|MGC138442 protein-coding 1602651 C13orf31 chromosome 13 open reading frame 31 15489334,14702039,12477932 144811 NM_153218,AL512506,CH471075,AK096044,BC035749,BX538036 NP_694950,EAX08701,BAC04686,AAH35749,CAD97980,Q7Z395,Q8IV20 Hs.210586 DKFZp686D11119|FLJ38725 protein-coding 1605918 C13orf33 chromosome 13 open reading frame 33 15489334,15057823,14702039,12477932 84935 NM_032849,AL353680,CH471075,AB055407,AK027740,AK055635,BC040165,BC101624,BC101626 NP_116238,CAH71733,CAH71734,EAX08473,EAX08474,BAC53805,BAB55332,BAB70975,AAH40165,AAI01625,AAI01627,Q5VYS3,Q5VYS4 Hs.646647,Hs.708377 FLJ14834|MGC126673|MGC126675 protein-coding 1605625 C13orf34 chromosome 13 open reading frame 34 BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM] 18378770,16890155,15489334,15057823,14702039,12477932,11935316 79866 NM_024808,AL138695,CH471093,AK026277,AK291496,BC007119,BC025367,BC044213,BC056876,BM923278,BX648605,CR617422,CR625945 NP_079084,CAH72712,CAH72713,EAW80514,EAW80515,BAB15426,BAF84185,AAH07119,AAH25367,AAH44213,AAH56876,Q6PGQ7 Hs.709577 BORA|FLJ22624|RP11-342J4.2 protein-coding 1601909 C13orf35 chromosome 13 open reading frame 35 400165 NM_207440,AL139384,CH471085,AK129953 NP_997323,EAX09168,BAC85256,Q6ZP68 Hs.591213 FLJ26443 protein-coding 1321865 C14orf1 chromosome 14 open reading frame 1 10449901,11256614,16381901,16169070,15489336,15489334,12958361,12508121,12477932,11230166,11160377,11076863,11042152,10931946 11161 AC007182,CH471061,AF134159,AF136971,AF161406,AL136658,BC002444,BX248022,CR533443,CR596661,CR597566,CR603410,NM_007176 NP_009107,AAD51373,EAW81237,EAW81238,AAD54079,AAG49432,AAF28966,CAB66593,AAH02444,CAD62345,CAG38474,Q6FII3,Q86TW5,Q9UKR5,CAL38319,CAL38706 Hs.702044 GDB:9956991 ERG28|NET51 protein-coding 1318960 C14orf100 chromosome 14 open reading frame 100 16381901,16166642,15489336,15489334,14702039,12800201,12477932,11230166,11076863,11042152 51528 NM_001098625,NM_016475,AL121694,AL159140,AL162471,CH471061,AA461198,AF151047,AF161445,AF212245,AF529304,AK021683,AK027591,AK056145,AL136696,BC005198,BC010359,BX161501,CR457163,CR533510,CR594163,CR596184,CR605227,CR612457,CR615396,DC381037 NP_001092095,NP_057559,EAW80753,EAW80754,EAW80755,EAW80756,EAW80757,EAW80758,AAF36133,AAF29005,AAG41781,AAP85636,BAB13874,BAB55216,CAB66631,AAH05198,AAH10359,CAD61945,CAG33444,CAG38541,Q9P055,CAL37437,CAL37512 Hs.446850 CDA06|HSPC213|HSPC327|JAMP protein-coding 1354503 C14orf101 chromosome 14 open reading frame 101 15489334,14702039,12477932 54916 NM_017799,AL161757,AL355103,CH471061,AK000399,AK023885,AK056291,AK293099,BC008949,BC023579,BC045556,BC121163,BC121164,BX647387,CR615494 NP_060269,EAW80691,BAA91139,BAF85788,AAI21164,AAI21165,Q0IJ48,Q0VAA1,Q9NX78 Hs.497253 FLJ20392 protein-coding 1351142 C14orf102 chromosome 14 open reading frame 102 17353931,14702039,12508121,12477932 55051 NM_199043,NM_017970,AL161662,CH471061,AK000870,AK024113,AK094807,AK127843,AL832941,AW196499,BC008925,BC021805,BC033136,BC098568,BC109040,BC118673,BC122532,CR605863,R54506 NP_950244,NP_060440,EAW81422,EAW81423,EAW81424,EAW81425,BAA91404,BAB14830,CAH56334,AAH98568,AAI18674,Q0VFW7,Q4G0A7,Q658X2,Q9H7Z3 Hs.528131 FLJ10008|FLJ14051 protein-coding 1321142 C14orf104 chromosome 14 open reading frame 104 15489334,14702039,12508121,12477932 55172 NM_001083908,NM_018139,AL139099,CH471078,AK001425,BC011400,BC013322,BX092175,BX248264,BX248765,CR619602 NP_001077377,NP_060609,EAW65755,EAW65756,EAW65757,BAA91684,AAH11400,AAH13322,CAD62592,CAD66572,Q86TR1,Q9NVR5 Hs.231761 FLJ10563 protein-coding 1350908 C14orf105 chromosome 14 open reading frame 105 14702039,12477932,9373149 55195 NM_018168,AL161804,AL355834,CH471061,AK001512,AK223127,BC028060,BC117405 NP_060638,EAW80706,EAW80707,BAA91732,BAD96847,AAH28060,AAI17406,Q05C89,Q17R99,Q9NVL8 Hs.659706 FLJ10650 protein-coding 1313558 C14orf106 chromosome 14 open reading frame 106 17199038,17081983,16565220,15489334,14702039,12477932,11572484,10976766 55320 NM_018353,AL121809,CH471078,AB067490,AJ242977,AK002048,BC051885,BC065544 NP_060823,EAW65777,EAW65778,EAW65779,EAW65780,BAB67796,CAB45134,BAA92055,AAH51885,AAH65544,Q6P0N0 Hs.437941 FLJ11186|HSA242977|KIAA1903|MIS18BP1 protein-coding 1317656 C14orf108 chromosome 14 open reading frame 108 15489334,14702039,12477932,11230166,9373149 55745 AL139195,AL355834,CH471061,AF094583,NM_018229,AK001675,AK172824,AK225345,AL136685,BC013174,CR619762 NP_060699,EAW80700,EAW80701,EAW80702,EAW80703,AAC78130,BAA91828,BAD18791,CAB66620,AAH13174,Q6ZMD7,Q9H0R1 Hs.648385 FLJ10813 protein-coding 1349199 C14orf109 chromosome 14 open reading frame 109 15489334,12477932 26175 NM_015676,NM_001098621,AL110118,CH471061,AL080118,AW404266,BC030119,BP398505,CX785861 NP_056491,NP_001092091,EAW81517,EAW81518,CAB45717,AAH30119,Q8N6I4 Hs.275352 DKFZP564F1123 protein-coding 1321882 C14orf112 chromosome 14 open reading frame 112 15489334,12477932,11042152 51241 AK290743,BC001702,CR457199,CR594391,CR603105,NM_016468,AL356804,CH471061,AF151037,AF226729 BAF83432,AAH01702,CAG33480,Q9P0S2,NP_057552,EAW81031,AAF36123,AAG09730 Hs.443661 HSPC203 protein-coding 1343911 C14orf113 chromosome 14 open reading frame 113 54792 Q9NXV8 AK000041 BAA90900,Q9NXV8 Hs.675410 FLJ20034 protein-coding 1347442 C14orf115 chromosome 14 open reading frame 115 15489334,14702039,12477932 55237 AC005519,NM_018228,CH471061,CS300723,AK001673,AK023213,BC053325,CX165172 NP_060698,EAW81173,CAK32387,BAA91826,BAB14466,AAH53325,Q9H8Y1 Hs.578167 FLJ10811 protein-coding 1318945 C14orf118 chromosome 14 open reading frame 118 16344560,15489334,14702039,12477932,10574461 55668 Q9H3M3,Q9NWQ4,Q9ULA8 AB032978,AK000696,AK000895,AK023523,AL712469,AU144095,AW005132,BC038835,BC058032,BE778470,BX387502,BX476104,CR593970,CR612584,CR623792,NM_017972,NM_017926,AC008015,AC016526,CH471061 EAW81253,EAW81254,EAW81255,EAW81256,BAA86466,BAA91325,EAW81250,EAW81251,EAW81252,BAA91411,AAH58032,Q9H3M3,Q9NWQ4,Q9ULA8,NP_060442,NP_060396,AAF03244,AAG38637 Hs.410231 FLJ10033|FLJ20689|MGC61896 protein-coding 1318193 C14orf119 chromosome 14 open reading frame 119 15489334,14702039,12477932 55017 AL117258,CH471078,AF061731,AK000678,BC009645,BC056255,BC061637,CR457248,CR595757,CR607655,CR611338,CR611802,CR618010,CR620909,NM_017924 EAW66185,AAG43142,BAA91320,AAH09645,AAH56255,AAH61637,CAG33529,Q6IAA7,Q9NWQ9,NP_060394 Hs.525238 FLJ20671|MGC74723 protein-coding 1317698 C14orf122 chromosome 14 open reading frame 122 16189514,15489334,12477932,10810093 51016 NM_016049,AL136295,CH471078,AF151870,AY368908,BC002491 NP_057133,EAW66103,EAW66104,AAD34107,AAQ83690,AAH02491,Q6UJX3,Q9Y3B6 Hs.271614 CGI-112 protein-coding 1319586 C14orf124 chromosome 14 open reading frame 124 15489334,14702039,12477932 56948 NM_020195,AL132800,CH471078,AF226050,AK123513,BC000989,BC008566,BI256676,BX161384,CR590864,CR592384,CR600486,CR601098,CR602789,CR608148,CR610185,CR615168,CR616064,CR623352 NP_064580,EAW66009,EAW66010,EAW66011,EAW66012,AAF86950,BAC85634,AAH00989,CAD61875,Q86TZ5,Q9NRG7 Hs.643552 HCDI protein-coding 1319312 C14orf126 chromosome 14 open reading frame 126 15489334,14702039,12477932,8889548 112487 NM_080664,AL139353,AL163973,CH471078,AK022703,AK055367,BC010618,BI553940,BU675173 NP_542395,EAW65944,EAW65945,EAW65946,AAH10618,Q96FN9 Hs.116014 MGC9912 protein-coding 1344910 C14orf128 chromosome 14 open reading frame 128 84837 NM_032751 1318256 C14orf129 chromosome 14 open reading frame 129 17353931,16981698,15489334,14702039,12508121,12477932,11042152 51527 NM_016472,AL359240,CH471061,AF151044,AK000796,AK094654,BC004818,CR608981 NP_057556,EAW81634,EAW81635,AAF36130,BAA91380,AAH04818,Q9P0R6 Hs.592297 GSKIP|HSPC210|MGC4945 protein-coding 1344986 C14orf130 chromosome 14 open reading frame 130 16713569,16344560,15489334,14702039,12477932 55148 NM_175748,NM_001100417,AL110118,AL132838,CH471061,AK001345,AK097477,BC015046,BC017013,BC051819,BX248249,CR602248,CR616244,DB047433 NP_786924,NP_001093887,EAW81521,EAW81522,EAW81523,BAA91639,BAC05069,AAH15046,AAH17013,AAH51819,CAD62577,Q05DA8,Q8N806 Hs.648806 FLJ10483|MGC9518 protein-coding 1343787 C14orf131 chromosome 14 open reading frame 131 14702039,12477932,10508479,9373149,8125298 55778 BC006228,BC042659,BC073137,BQ019232,BX248266,CR609610,CR610461,CR613117,CR621855,DB460089,AL137229,AL352978,CH471061,AF155112,AK001994,AK093342,AK125678,AK127821,AK223312,AK289632,AL137478,BC006222,NM_018335 AAH06222,AAH06228,AAH73137,CAD62594,A8K0R7,Q86TU1,Q9NT83,Q9Y595,NP_060805,EAW81781,EAW81782,EAW81783,EAW81784,AAD42878,BAA92026,BAD97032,BAF82321,CAB70759 Hs.106005 FLJ11132 protein-coding 1350098 C14orf132 chromosome 14 open reading frame 132 15489334,14702039,12477932,9110174,8619474 56967 XR_040536,XR_040537,XR_040538,AL137190,CH471061,AF131832,AK001590,AK022021,AK025915,AK074462,AL390130,BC042922,BC043593,BC067267,CR603350 EAW81626,EAW81627,EAW81628,CAB99085,AAH42922,Q9NPU4 Hs.6434 DKFZp761F2014|FLJ10728 miscrna 1351893 C14orf133 chromosome 14 open reading frame 133 16189514,15592455,15489334,15345747,14702039,12508121,12477932,9373149,8125298 63894 NM_022067,AF111168,CH471061,AK022769,AK022925,AK024661,AK098254,AK222706,BC015054,CR457294,CR607042,CR610207 NP_071350,AAD09624,EAW81286,EAW81287,EAW81288,EAW81289,EAW81290,BAB14237,BAB14310,BAB14951,BAD96426,AAH15054,CAG33575,Q53H75,Q6IA61,Q9H9C1 Hs.16157 FLJ12707 protein-coding 1348042 C14orf135 chromosome 14 open reading frame 135 16237761,16189514,15489334,14702039,12477932,11230166 64430 NM_022495,AL157911,AL163853,CH471061,AA651916,AK022861,AK023008,AK095489,AL136581,AY553876,BC030714,BC033843,BX648440,CR598754 NP_071940,EAW80768,BAB14277,CAB66516,AAS64574,AAH33843,CAH56141,Q63HM2 Hs.509499 FBP2|FLJ12799|FLJ38170 protein-coding 1314724 C14orf138 chromosome 14 open reading frame 138 15489334,14702039,12477932 79609 NM_001040662,NM_024558,AL109758,AK023982,AK129564,BC027585,BC105118,BI753530,BI767189,BX247997,CR597030,CR601939 NP_001035752,NP_078834,BAB14752,BAC85183,AAI05119,CAD62329,Q9H867 Hs.558541 FLJ13920 protein-coding 1353573 C14orf139 chromosome 14 open reading frame 139 79686 NM_024633,AK024929 1316129 C14orf140 chromosome 14 open reading frame 140 16189514,15489334,14702039,12477932,9373149 79696 NM_024643,NM_001042430,AL049780,CH471061,AK026746,AK223359,BC004259,BQ061857,N62812 NP_078919,NP_001035895,EAW81217,EAW81218,EAW81219,BAB15541,BAD97079,AAH04259,Q53FD0 Hs.48642 FLJ23093 protein-coding 1346081 C14orf142 chromosome 14 open reading frame 142 15489334,12477932 84520 NM_032490,AL110118,CH471061,AF277185,BC021733,BC065216,BC107429,BC109390,BF131439,CR590920,CR613456 NP_115879,EAW81519,EAW81520,AAK07544,AAH21733,AAH65216,AAI07430,AAI09391,Q0D2N1,Q0P6C4,Q9BXV9 Hs.20142 MGC104244|MGC133207|PNAS-127 protein-coding 1343471 C14orf143 chromosome 14 open reading frame 143 14702039,12477932 90141 BX247991,CF593330,CR619765,NM_145231,AL137128,AL137230,AL163011,CH471061,AK094740,AL832321,BC001787,BX161414 CAD61889,CAD62325,Q9BUY7,NP_660274,EAW81411,EAW81412,CAD38616,AAH01787 Hs.123232 DKFZp547I1415 protein-coding 1352890 C14orf144 chromosome 14 open reading frame 144 145195 XM_930354,XM_941225,AL590079,BC007749 XP_935447,XP_946318,AAH07749,Q96I85 Hs.679805 protein-coding 1344060 C14orf145 chromosome 14 open reading frame 145 14702039,12477932 145508 NM_152446,AC010072,AC018513,AC022404,AI857800,AK056756,AK125925,BC036939,BC045834,BX248746 NP_689659,AAF86565,AAG17473,BAB71273,BAC86346,AAH36939,AAH45834,CAD66553,Q6ZU80,Q86TS1,Q8N3Z7,Q9HCB0,Q9NS50 Hs.162889 C14orf61 protein-coding 1350858 C14orf147 chromosome 14 open reading frame 147 15489334,14702039,12477932 171546 NM_138288,AL356806,CH471078,AI765163,AK001993,AL080066,BC016805,BC016808,BC021701,BC068480,CR616537 NP_612145,EAW65923,EAW65924,AAH16805,AAH16808,AAH21701,AAH68480,Q969W0 Hs.269909 MGC24447 protein-coding 1348173 C14orf148 chromosome 14 open reading frame 148 15489334,14702039,12508121,12477932 122945 NM_138791,NM_001113475,AC007954,AF111168,CH471061,AK057371,BC066965 NP_620146,NP_001106946,AAF62562,AAD09625,EAW81285,AAH66965,Q6NXP6 Hs.97556 FLJ32809 protein-coding 1313918 C14orf149 chromosome 14 open reading frame 149 12477932 112849 NM_144581,AL159140,CH471061,AK058165,BC012131 NP_653182,EAW80752,BAB71696,AAH12131,Q96EM0 Hs.29706 FLJ25436 protein-coding 1318068 C14orf151 chromosome 14 open reading frame 151 12665801,12477932 84800 CR612331,NM_032714,AL583722,CH471061,BC006173,BX248757 NP_116103,EAW81872,AAH06173,CAD66564,Q86TR7,Q9BRM1 Hs.317821 MGC13251 protein-coding 1319141 C14orf152 chromosome 14 open reading frame 152 15489334,14702039,12477932 90050 NM_138344,AL132642,CH471061,AK093387,AY255795,BC009073 NP_612353,EAW81537,EAW81538,BAC04151,AAP15252,AAH09073,Q8N9Y4 Hs.525550 protein-coding 1312327 C14orf153 chromosome 14 open reading frame 153 16782708,15489334,12477932,9373149,8125298 84334 BC007412,CR619996,NM_032374,AL139300,CH471061,AK223092,AK223103 AAH07412,Q96IL0,NP_115750,EAW81829,EAW81830,EAW81831,BAD96812,BAD96823 Hs.656616 APOP1|Apop-1|MGC2562 protein-coding 1323602 C14orf156 chromosome 14 open reading frame 156 Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM] 17081983,16762838,16341674,15489334,12477932 81892 NM_031210,AC008044,AC008372,CH471061,AF253980,AF271779,AJ272055,AY860853,BC017895,BQ083727,EL951262 NP_112487,EAW81303,EAW81304,AAG44629,AAG44790,CAC81241,AAX58600,AAH17895,Q9GZT3 Hs.655105 DC50|PD04872|SLIRP protein-coding 1323376 C14orf159 chromosome 14 open reading frame 159 16381901,16344560,15790807,15489336,15489334,14702039,12975309,12477932,11230166,11076863,9373149,8125298 80017 NM_024952,NM_001102369,NM_001102368,NM_001102367,AL121784,AL135818,CH471061,AB210031,AK022564,AK023200,AK024603,AK091394,AK097262,AK097294,AK098752,AK123532,AK222531,AL602721,AY358516,AY927602,BC009182,BC010614,BC065558,BX161393,BX247989,BX248060,BX248294,NM_001102366,BX248782,BX537970,BX642394,BX647492,CR457289,DA296867,DA641301,DB258432,DR003467 NP_001095836,NP_079228,NP_001095839,NP_001095838,NP_001095837,EAW81441,EAW81442,EAW81443,EAW81444,BAE06113,BAB14102,BAB14458,BAB14932,BAC03653,BAD96251,AAQ88880,AAH09182,AAH10614,AAH65558,CAD61880,CAD62323,CAD62356,CAD62622,CAD66589,CAD97934,CAG33570,Q0JU16,Q4LE40,Q53HP9,Q6IA66,Q7Z3D6,Q8NB88,CAL37996 Hs.309849 C14orf160|DKFZp686I02128|FLJ20950|FLJ39943|FLJ39975 protein-coding 1350524 C14orf16 chromosome 14 open reading frame 16 414762 1354013 C14orf162 chromosome 14 open reading frame 162 56936 NM_020181,AF284217 1347248 C14orf164 chromosome 14 open reading frame 164 378704 1346815 C14orf165 chromosome 14 open reading frame 165 414767 BX161431 1312305 C14orf166 chromosome 14 open reading frame 166 15147888,15635413,15489334,12477932,11507205,10810093,1602151,16189514 51637 NM_016039,AL358333,CH471078,AF087877,AF100755,AF151857,AY817175,BC001722,BF594675,CR594131,CR599997,CR605881,CR606480,CR606481,CR611728,CR621856,CR623591,CR626554,DQ525179 NP_057123,EAW65659,EAW65660,EAW65661,AAP97177,AAD43019,AAD34094,AAV54070,AAH01722,ABF56619,Q549M8,Q5RLJ0,Q9Y224,ABZ92335 Hs.534457 CGI-99|CGI99|CLE|CLE7|LCRP369 protein-coding 1351641 C14orf166B chromosome 14 open reading frame 166B 16344560,12477932 145497 NM_001081002,NM_194287,AF111169,CH471061,AK058106,AK125722,BC062799,BC121159,BC121160,DB337977,DC397584 NP_001074471,NP_919263,AAD44364,EAW81265,BAC86259,AAI21160,AAI21161,Q0VAA2 Hs.147276 protein-coding 1351560 C14orf167 chromosome 14 open reading frame 167 737633 12477932 737633 55449 BC062348,BX247982,BX647964,AF116636,BC013143 CAD62316,Q86U40,Q9P1J3,AAF71059 Hs.601265 PRO1488 miscrna 1317046 C14orf169 chromosome 14 open reading frame 169 737633 15489334,14742713,14702039,12477932 737633 79697 NM_024644,AC005280,AK025455,AY390535,BC011350,BC071954 NP_078920,BAB15138,AAR27292,AAH11350,AAH71954,Q9H6W3 Hs.509916 FLJ21802|MAPJD|NO66 protein-coding 1346998 C14orf17 chromosome 14 open reading frame 17 414763 1343016 C14orf172 chromosome 14 open reading frame 172 737633 16043508,15489334,14702039,12477932,11181995 737633 115708 NM_152307,AL133367,AL139300,CH471061,AK097771,BC007241,BC010167,BC016033,BQ015210,CR597205,CR599923,CR605570,CR616463,CR620786,CR624022,CR625555,DB496873 NP_689520,EAW81823,EAW81824,EAW81825,BAC05168,AAH10167,AAH16033,Q96B39,Q96FX7 Hs.525610 FLJ40452|GCD14|Gcd14p|TRM61 protein-coding 1606691 C14orf174 chromosome 14 open reading frame 174 15489334,14702039,12508121,12477932 161394 BC104836,NM_001010860,AC007954,CH471061,AK093282,AK292571,BC104834 AAI04835,AAI04837,Q9P1V8,NP_001010860,AAF62561,EAW81284,BAF85260 Hs.421961 FAM15A|FLJ35963|MGC132494|MGC132496 protein-coding 1626192 C14orf176 chromosome 14 open reading frame 176 643382 XM_001714742,XM_001716933,AL161668,XM_001716718 XP_001714794,XP_001716985,XP_001716770 protein-coding 1606666 C14orf177 chromosome 14 open reading frame 177 12477932 283598 Q52M58 NM_182560,AL096821,CH471061,AK098639,BC093661 Q52M58,NP_872366,EAW81658,EAW81659,BAC05361,AAH93661 Hs.448754 FLJ25773 protein-coding 1606667 C14orf178 chromosome 14 open reading frame 178 12477932 283579 Q8N769 BC113986,NM_174943,AC008372,AK098842,BC107147,BC113929 AAI13987,Q8N769,NP_777603,BAC05432,AAI07148,AAI13930 Hs.375834 FLJ25976|MGC129942 protein-coding 1602079 C14orf179 chromosome 14 open reading frame 179 15489334,14702039,12508121,12477932 112752 NM_052873,AC008015,AF107885,CH471061,NM_001102564,AK056735,AW439039,BC010436,BC042852,DB443802,DB497730 NP_001096034,NP_443105,AAF03245,AAC79728,EAW81241,EAW81246,EAW81248,AAH10436,Q96FT9 Hs.532626 FLJ32173|MGC16028 protein-coding 1603812 C14orf180 chromosome 14 open reading frame 180 14702039,12477932 400258 BX337634,NM_001008404,BX927359,CH471061,AK095913,BC041103,BX161457 CAD61919,Q8N912,NP_001008404,EAW81864,EAW81865,BAC04645,AAH41103 Hs.153827 FLJ38594 protein-coding 1603813 C14orf181 chromosome 14 open reading frame 181 14702039 400223 AL132986,CH471061,AK097098,BP397993,NM_207442 NP_997325,EAW80970,BAC04948,Q8N8A1,AAI48846,AAI52899 Hs.655774 FLJ39779 protein-coding 1353136 C14orf19 chromosome 14 open reading frame 19 280655 NR_002937,AL049776,AY168620 Hs.639271 pseudo 1352128 C14orf2 chromosome 14 open reading frame 2 1298632 16344560,15489334,12477932,11042152,9653160 1298632 9556 NM_004894,NM_001127393,AL132712,CH471061,AF054175,AF116639,BC000429,BC001944,BC047289,BC063419,BX161388,CB127906,CR593417,DA526965 NP_004885,NP_001120865,EAW81849,EAW81850,EAW81851,EAW81852,AAC39909,AAF71062,AAH00429,AAH01944,CAD61878,P56378 Hs.109052 GDB:9957333 MP68|PLPM protein-coding 1318142 C14orf21 chromosome 14 open reading frame 21 17081983,15635413,15489334,12508121,12477932 161424 NM_174913,AL096870,CH471078,AB095941,AK123717,BC015481,BC025332,BX248018,BX647311,CR593232,CR619293 NP_777573,EAW66034,EAW66035,BAC23117,AAH25332,CAD62343,CAI46005,Q5HYL4,Q86U38 Hs.708040 KIAA2021 protein-coding 1350643 C14orf22 chromosome 14 open reading frame 22 387977 AI278049,N48783 Hs.143441 protein-coding 1352241 C14orf23 chromosome 14 open reading frame 23 387978 XM_370758,XM_001720615,XM_940323,AL049777,BX248251 XP_370758,XP_001720667,XP_945416,CAD62579,Q86U37 Hs.92556 c14_5148 protein-coding 1342850 C14orf24 chromosome 14 open reading frame 24 15489334,14702039,12477932 283635 NM_001079519,NM_173607,AL049776,CH471078,AI148967,AK096173,AL833508,BC029559,BX640884,BX640984,CR749796 NP_001072987,NP_775878,EAW65892,BAC04716,AAH29559,CAH18656,Q68CT2,Q8N128 Hs.446357 DKFZp686J1254|FLJ38854 protein-coding 1345600 C14orf25 chromosome 14 open reading frame 25 15489334,12477932 319089 XM_001129346,XM_001131984,AL121790,AL136296,BC038110,BF063203 XP_001129346,XP_001131984,AAH38110,Q8IY25 Hs.659936 protein-coding 1348871 C14orf26 chromosome 14 open reading frame 26 8889549 400208 AK125955,AA029430 Hs.660501 protein-coding 1316923 C14orf28 chromosome 14 open reading frame 28 16341674,15489334,12477932 122525 NM_001017923,AL049870,CH471078,AF250395,AK126985,BC030258,BC105030,BC105032,BM849739,BU624091,CR602151 NP_001017923,EAW65796,AAQ14261,AAH30258,AAI05031,AAI05033,Q4W4Y0,Q8N0U0 Hs.82098 DRIP1|c14_5270 protein-coding 1351913 C14orf30 chromosome 14 open reading frame 30 161342 BG121773 1353594 C14orf33 chromosome 14 open reading frame 33 400214 XM_375081,BX248296 XP_375081,CAD62624,Q86SY8 Hs.633724 protein-coding 1312543 C14orf34 chromosome 14 open reading frame 34 55673 BF572611 Hs.569345 protein-coding 1351933 C14orf37 chromosome 14 open reading frame 37 15489334,12477932 145407 NM_001001872,AL049838,AL121579,CH471061,AK292513,AK292605,BC013707,BC062772,BC146861,BX161411,BX161448,BX649130 NP_001001872,EAW80712,EAW80713,BAF85202,BAF85294,AAH62772,AAI46862,CAD61887,CAD61913,Q86TY3 Hs.535420 c14_5376 protein-coding 1347710 C14orf38 chromosome 14 open reading frame 38 122847 AB069994 1350418 C14orf39 chromosome 14 open reading frame 39 15703187,14702039 317761 NM_174978,AL122057,AL132778,CH471061,AK098187,AL832219,BC125070,BC125071 NP_777638,EAW80780,EAW80781,BAC05253,AAI25071,Q08AQ4,Q8N1H7 Hs.335754 MGC149706|Six6os1 protein-coding 1322211 C14orf4 chromosome 14 open reading frame 4 11095982,17627301,17081983,15345747,15302935,12508121,12477932,12029088,11347906,8889548 64207 NM_024496,AC007686,AJ277365,AB058768,AF063597,AI377523,AI821684,AL832320,AW001869,BC042460,BC108292,BI765830,BM690017,BM744266,CB852902 NP_078772,CAC10539,BAB47494,AAG43156,CAD38615,Q9H1B7 Hs.179260 GDB:11498079 EAP1|IRF2BPL|KIAA1865 protein-coding 1347411 C14orf40 chromosome 14 open reading frame 40 319109 BE348955 1344999 C14orf41 chromosome 14 open reading frame 41 14702039 440187 AK055876,BG654811 Hs.525443 c14_5527 protein-coding 1342722 C14orf42 chromosome 14 open reading frame 42 161380 BF109853 1314547 C14orf43 chromosome 14 open reading frame 43 17081983,16344560,15489334,14702039,12508121,12477932 91748 NM_194278,AC005520,AC006146,CH471061,AK024978,AK090424,AK095434,AK127785,BC003121,BC006451,BC006511,BC009202,BC015668,BC025330,BC034345,BC036475,BC047633,BC052976,BC062730,NM_001043318,BC105996,BG177343,DA096012,DN999792 NP_001036783,NP_919254,EAW81127,EAW81128,BAC03405,BAC04547,BAC87133,AAH06511,AAH09202,AAH15668,AAH25330,Q6PJG2,Q8N9A6,Q8NF55 Hs.656506 C14orf117|FLJ00335|LSR68|c14_5541 protein-coding 1319187 C14orf44 chromosome 14 open reading frame 44 15489334,14702039,12477932,7566098 145483 NM_152445,AC005480,CH471061,AK056259,BC053909,CR749537 NP_689658,EAW81144,EAW81145,BAB71131,AAH53909,Q96MY7 Hs.640469,Hs.660789 FLJ31697|c14_5547 protein-coding 1346239 C14orf45 chromosome 14 open reading frame 45 17081983,15489334,14702039,12477932 80127 NM_025057,AC005484,CH471061,AK026842,AK097531,AL834487,BC044808,BC104979,BC104981,DB484577,DB493409 NP_079333,EAW81157,BAB15572,CAD39145,AAH44808,AAI04980,AAI04982,Q8ND07 Hs.644621 FLJ23189 protein-coding 1344728 C14orf48 chromosome 14 open reading frame 48 16189514,15489334,15014966,14702039,12477932 256369 NM_152777,AL079302,CH471061,AK097741,BC021728,BC031252 NP_689990,EAW81544,EAW81545,EAW81546,BAC05156,AAH21728,Q8NCU1 Hs.143845 MGC33356|c14_5713 protein-coding 1312072 C14orf49 chromosome 14 open reading frame 49 16330710,14702039,12508121,12477932,8889548 161176 BX342493,BX346277,BX648302,BC146604,BM701154,BX248076,NM_152592,AL138539,AK098471,AK131436 CAD62365,Q6ZMZ3,AAI46605,NP_689805,BAC05312,BAD18582 Hs.354645 FLJ25605 protein-coding 1319175 C14orf50 chromosome 14 open reading frame 50 15489334,14702039,12477932 145376 NM_172365,AL049869,CH471061,AK058044,AK130365,BC068989 NP_758953,EAW80868,BAB71637,AAH68989,Q96LQ0 Hs.144696 protein-coding 1346214 C14orf51 chromosome 14 open reading frame 51 338000 1350584 C14orf53 chromosome 14 open reading frame 53 122439 1604895 C14orf53 chromosome 14 open reading frame 53 12477932 440184 XR_041746,XR_041748,XR_041747,AL355093,CH471061,BC033546,BC056671,BC070365 EAW80921,EAW80922,AAH70365,Q6NS92 Hs.412138 MGC88374 miscrna 1345289 C14orf55 chromosome 14 open reading frame 55 10524237 317760 NG_002465,AF158638,AL357153 pseudo 1344838 C14orf56 chromosome 14 open reading frame 56 14702039 89919 XM_001718387,XM_001715980,XM_001716301,AC004817,AC005476,AK024445 XP_001718439,XP_001716032,XP_001716353,BAB15735,Q9H7N3 Hs.551210 FLJ00035 protein-coding 1348818 C14orf57 chromosome 14 open reading frame 57 317787 1343204 C14orf60 chromosome 14 open reading frame 60 338001 1348359 C14orf62 chromosome 14 open reading frame 62 317786 1350937 C14orf63 chromosome 14 open reading frame 63 145249 1353623 C14orf64 chromosome 14 open reading frame 64 14702039,12477932 388011 AK091668,AK097943,BC043585,BX647564 Hs.651477 miscrna 1344482 C14orf65 chromosome 14 open reading frame 65 16344560,15489334,14702039,12477932 317762 XR_040690,XR_040691,XR_040689,AL110504,AL160313,AK026211,AK093969,AK096927,AK123840,BC029998,BC031990,BC110042,CR592191,DB229624 BAB15395,BAC04260,AAH31990,AAI10043,Q8N9R9,Q9H669 Hs.653294 C14orf136|FLJ22558|MGC117455 miscrna 1343261 C14orf67 chromosome 14 open reading frame 67 196860 1345966 C14orf68 chromosome 14 open reading frame 68 15322095,15221005,14702039 283600 NM_207117,AL157871,CH471061,AB073385,AK092001,AY569438,AY570298,BC137253,BC137254,BX248260,CR607410,CR624455 NP_997000,EAW81696,EAW81697,EAW81698,EAW81699,BAD38636,AAS80155,AAS77211,AAI37254,AAI37255,CAD62588,Q6Q0C1 Hs.108268 HDMCP|HMFN1655 protein-coding 1353145 C14orf7 chromosome 14 open reading frame 7 378821 AI027773 1354296 C14orf70 chromosome 14 open reading frame 70 283601 NM_001007560 1345483 C14orf71 chromosome 14 open reading frame 71 338002 1352219 C14orf72 chromosome 14 open reading frame 72 145200 XM_096733,XM_944937,AL355032 XP_096733,XP_950030 Hs.150840 protein-coding 1349636 C14orf73 chromosome 14 open reading frame 73 15489334,12477932 91828 NM_001077594,AL161669,AK000671,BC113655,BC117375,BX279908 NP_001071062,AAI13656,AAI17376,Q17RC7 Hs.37712 protein-coding 1346717 C14orf74 chromosome 14 open reading frame 74 254299 1344860 C14orf76 chromosome 14 open reading frame 76 122401 1354345 C14orf77 chromosome 14 open reading frame 77 145323 1316438 C14orf79 chromosome 14 open reading frame 79 16112646,15489334,14702039,12508121,12477932,9110174,8619474 122616 NM_174891,AL512802,CH471061,AF038188,AK057249,BC003539,BC011537,BC025175,BC137495 NP_777551,EAW81890,EAW81891,EAW81892,AAH03539,AAH11537,AAH25175,AAI37496,Q96F83 Hs.27183 protein-coding 1322363 C14orf80 chromosome 14 open reading frame 80 14702039,12477932 283643 BX248038,BX248074,BX248283,CR601083,CR602316,CR616658,CR618931,CR621008,CR621976,CR623408,CR623931,NM_173608,AL928654,CH471061,AK024506,BC016028,BX161477 CAD61932,CAD62351,CAD62363,CAD62611,Q86SX3,Q86TT4,NP_775879,EAW81929,BAB15796,AAH16028 Hs.72363 MGC16771 protein-coding 1353513 C14orf81 chromosome 14 open reading frame 81 153514 1344152 C14orf82 chromosome 14 open reading frame 82 14702039 145438 XM_498578,XM_944991,XM_001716509,AL079307,AL122125,AK022437 XP_498578,XP_950084,XP_001716561 Hs.645410 FLJ12375 protein-coding 1348278 C14orf83 chromosome 14 open reading frame 83 15489334,14702039,12477932 161145 Q8NBD8 NM_182526,AL132640,AL139785,CH471061,AK056646,AK074690,AK090706,BC104940,BC104942 NP_872332,EAW80938,EAW80939,BAC03507,AAI04941,AAI04943,Q8NBD8 Hs.509707 FLJ33387 protein-coding 1350885 C14orf84 chromosome 14 open reading frame 84 161159 1348492 C14orf85 chromosome 14 open reading frame 85 319085 NR_002808,AL117192,AK024887 Hs.612888 miscrna 1345866 C14orf86 chromosome 14 open reading frame 86 12477932 283592 AK125743,BC029883,BC037859 Hs.585649 protein-coding 1352699 C14orf88 chromosome 14 open reading frame 88 91813 1350207 C14orf89 chromosome 14 open reading frame 89 378881 1354469 C14orf91 chromosome 14 open reading frame 91 51217 AF113687 1348927 C14orf93 chromosome 14 open reading frame 93 15489334,14702039,12477932 60686 CR604681,AL132780,NM_021944,CH471078,AK022216,AK023026,BC014299,BX161383,BX161417,BX161474,BX161507,CR594518,CR609428,CR612609,CR614026,CR626012 NP_068763,EAW66196,EAW66197,EAW66198,EAW66199,EAW66200,EAW66201,EAW66202,EAW66203,BAB13988,BAB14363,AAH14299,CAD61874,CAD61892,CAD61930,CAD61946,Q9H972 Hs.255874 FLJ12154 protein-coding 1313228 C14orf94 chromosome 14 open reading frame 94 15790807,15489334,14702039,12477932 54930 NM_017815,AL132780,CH471078,AK000431,AK026016,AK057779,AY927599,BC001916,BC002554,BX247981,BX247995,BX248256,CR592027,CR595913,CR598312,CR607287,CR609131,CR616246,CR618417,CR620038,CR621122 NP_060285,EAW66206,EAW66207,EAW66208,EAW66209,EAW66210,EAW66211,EAW66212,EAW66213,EAW66214,EAW66215,BAA91161,BAB15322,AAH01916,AAH02554,CAD62315,CAD62328,CAD62584,Q9H6D7 Hs.442782 FLJ20424 protein-coding 1352318 C14orf95 chromosome 14 open reading frame 95 338003 1347542 C14orf97 chromosome 14 open reading frame 97 338004 1343544 C14orf98 chromosome 14 open reading frame 98 338005 1351050 C14orf99 chromosome 14 open reading frame 99 317730 1354202 C15orf13 chromosome 15 open reading frame 13 170479 1320309 C15orf15 chromosome 15 open reading frame 15 This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals. 16189514,15635413,15489334,15231747,14702039,12808088,12477932,12429849,11707418 51187 NM_016304,AC011912,CH471082,AF060926,AF165521,AF201949,AF212226,AK055713,BC005344,BC008409,BC008422,BC008449,BC008499,BC009593,BC009604,BC012913,BC014576,BC016312,BC016331,BC016725,BC016777,BC026266,BC026267,BC028672,BC035995,BC093067,CR457179,CR591767,CR594934,CR598587,CR599165,CR612184,CR615334,CR621791 NP_057388,EAW77473,EAW77474,EAW77475,AAG43138,AAF86651,AAF17241,AAK26249,AAH08409,AAH08422,AAH08449,AAH08499,AAH09593,AAH09604,AAH12913,AAH14576,AAH16312,AAH16331,AAH16725,AAH16777,AAH26266,AAH26267,AAH28672,AAH35995,AAH93067,CAG33460,Q9BS42,Q9UHA3 Hs.274772,Hs.593056 GDB:11510646 HRP-L30-iso|L30|RLP24|RPL24|RPL24L protein-coding 1321800 C15orf17 chromosome 15 open reading frame 17 737633 15489334,14702039,12477932,11214971 737633 57184 NM_020447,AC125435,CH471136,AK000005,AK001572,AK025373,AK291020,BC006348,BC015637,BC064575,BQ632184,DC306755 NP_065180,EAW99289,EAW99290,EAW99291,EAW99292,EAW99293,EAW99294,BAA92230,BAF83709,AAH15637,Q5XKK7 Hs.367690 FLJ00005 protein-coding 1351928 C15orf2 chromosome 15 open reading frame 2 10783265 23742 NM_018958,AC100720,AF179681,CH471151 NP_061831,AAF72107,EAW57612,Q9NZP6,AAI48367 Hs.649663 GDB:11503410 protein-coding 1351115 C15orf21 chromosome 15 open reading frame 21 15027122,14702039,12477932 283651 NM_173609,NM_001005266,NM_001005269,NM_001005268,NM_001005267,AC025580,AC090527,CH471082,AK096745,AY271964,AY271965,AY271966,AY271967,BC062412,BC101266 NP_775880,NP_001005266,NP_001005269,NP_001005268,NP_001005267,EAW77315,BAC04856,AAP12643,AAP12644,AAP12645,AAP12646,AAI01267,Q495B5,Q86SG4 Hs.574240 D-PCa-2|FLJ39426 protein-coding 1344647 C15orf23 chromosome 15 open reading frame 23 737633 15231747,16730941,15855057,15489334,14702039,12477932 737633 90417 NM_033286,AC013356,CH471125,AK027408,AK125765,AY652615,BC004543,BC014060,BC021124,BC045739,BC064344,BC107802,BC118559,BC118639,CR602848,CR611451,CR617477,CR619353,CR621728,U81002 NP_150628,EAW92409,EAW92410,EAW92411,EAW92412,AAT66172,AAH04543,AAH14060,AAH45739,AAH64344,AAI07803,AAI18560,AAI18640,AAD24201,Q9Y448 Hs.525796 FLJ14502|HSD11|MGC141728|MGC141729|TRAF4AF1 protein-coding 1312839 C15orf24 chromosome 15 open reading frame 24 737633 10873569,17165166,15489334,12975309,12477932 737633 56851 NM_020154,AC069045,AC079203,CH471125,AF242729,AJ245874,AJ250344,AY358445,BC012456,BC104934,BC104936,CR596314,CR603501,CR610167,CR626206 NP_064539,EAW92284,EAW92285,EAW92286,AAG44477,CAC01611,CAB96539,AAQ88810,AAH12456,AAI04935,AAI04937,Q9NPA0 Hs.160565 C11orf3|HT022|ORF1-FL1 protein-coding 1321239 C15orf26 chromosome 15 open reading frame 26 737633 15489334,14702039,12477932 737633 161502 NM_173528,AC036196,AC068870,CH471136,AK095934,BC062471 NP_775799,EAW99102,EAW99103,EAW99104,BAC04653,AAH62471,Q6P656 Hs.130979 FLJ38615 protein-coding 1351477 C15orf27 chromosome 15 open reading frame 27 16572171,16344560,15489334,15342556,14702039,12477932 123591 NM_152335,AC091100,CH471136,AK054866,AK058126,AK095509,BC104953,BC104955,BP369654,BQ009353,BX398159,DA090797,DA483185,DR007145 NP_689548,EAW99224,EAW99225,BAB71676,BAC04562,AAI04954,AAI04956,Q2M3C6 Hs.661411 FLJ30304|FLJ38190 protein-coding 1343834 C15orf28 chromosome 15 open reading frame 28 14702039 80035 AK021784 1314664 C15orf29 chromosome 15 open reading frame 29 737633 16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863 737633 79768 NM_024713,AC079203,CH471125,AK026210,AK293021,AL136908,AL833631,BC026234,BC037234,BC047748,BC111000,CR596194 NP_078989,EAW92288,EAW92289,EAW92290,BAB15394,BAF85710,CAB66842,AAH26234,AAI11001,Q0JSV2,Q9H079,CAL38412 Hs.633566 FLJ22557|MGC117356 protein-coding 1353443 C15orf31 chromosome 15 open reading frame 31 8228263 L17330 1606452 C15orf32 chromosome 15 open reading frame 32 15489334,14702039,12477932 145858 NM_153040,AC090985,CH471101,AK057393,BC109252,BC109253 NP_694585,EAX02151,BAB71467,AAI09253,AAI09254,Q32M92 Hs.367879 FLJ32831|MGC129836|MGC129837 protein-coding 1605268 C15orf33 chromosome 15 open reading frame 33 15489334,14702039,12477932,11329013 196951 NM_152647,AC018927,AC022306,AC025919,CH471082,AK023699,AK057362,BC048125,BC048139,BG182490,BI463646 NP_689860,EAW77369,EAW77370,EAW77371,EAW77372,EAW77373,EAW77374,BAB71451,AAH48125,Q96M60 Hs.695113 FLJ32800|MGC57432 protein-coding 1603158 C15orf37 chromosome 15 open reading frame 37 14702039,12477932 283687 NM_175898,AC015871,AK091107,AK092679,BC016975,BC101201,BC101202,BC101203,CR600752,CR616297 NP_787094,BAC03584,AAH16975,AAI01202,AAI01203,AAI01204,Q8NBB2,Q96AL6 Hs.512015 FLJ33788 protein-coding 1604167 C15orf38 chromosome 15 open reading frame 38 15489334,14702039,12477932 348110 AC027176,CH471101,AK093274,BC053602,CR618861,NM_182616 NP_872422,EAX02077,EAX02078,BAC04118,AAH53602,Q7Z6K5 Hs.6734 MGC61550 protein-coding 1604333 C15orf39 chromosome 15 open reading frame 39 16344560,15498874,15489334,14702039,12477932,11230166,8889548 56905 NM_015492,AC113208,CH471136,AF063593,AF143881,AF495726,AK056589,AK057025,AK123746,AK125111,AK125604,AK128205,AL109730,AL117540,AL360143,AL834382,BC000540,BC001762,BC006207,BC011379,BC011905,BC051235,BC109195,BC110367,BM684714,CR533482,DA720113 NP_056307,EAW99272,EAW99273,AAG43152,AAQ06680,BAC86215,BAC87324,CAB55985,CAB96089,CAD39045,AAH01762,AAH11379,AAH11905,AAH51235,AAI09196,AAI10368,CAG38513,Q2VPA3,Q6ZRI6,Q9H3J1,Q9NPN3 Hs.17936 DKFZP434H132|FLJ46337|MGC117209 protein-coding 1604247 C15orf40 chromosome 15 open reading frame 40 15489334,14702039,12477932 123207 NM_144597,AC022558,CH471188,AK125586,BC019820,BC019888,CR614786 NP_653198,EAW62431,EAW62432,AAH19820,Q8WUR7 Hs.352541 MGC29937 protein-coding 1607000 C15orf41 chromosome 15 open reading frame 41 17353931,15489334,12477932 84529 NM_032499,AC007429,AC013640,AC019016,CH471125,AF114263,AK026504,BC006254,BC042750,BX647650,CR612493 NP_115888,EAW92336,EAW92337,EAW92338,AAD29606,AAH06254,Q9Y2V0 Hs.48348 FLJ22851|HH114|MGC11326 protein-coding 1602448 C15orf42 chromosome 15 open reading frame 42 15146197,12477932 90381 NM_152259,AC013391,AC013787,CH471101,CQ783631,AK074727,AK123612,AW627706,BC002881,BC033209,BX538335,CN285632,DR731357,DR731358 NP_689472,EAX02056,CAF86784,BAC11165,AAH02881,AAH33209,CAD98102,Q7Z2Z1 Hs.441708 FLJ41618|MGC45866 protein-coding 1606959 C15orf43 chromosome 15 open reading frame 43 15489334,12477932 145645 NM_152448,AC090888,CH471082,BC029537 NP_689661,EAW77283,AAH29537,Q8NHR7,ABM81909,ABM85084 Hs.567701 MGC33951 protein-coding 1604589 C15orf44 chromosome 15 open reading frame 44 11256614,16381901,15489336,12477932,11230166,11076863 81556 NM_030800,AC027220,CH471082,AK027475,AL136662,BC007991,BC037823,CR595058,CR615440,CR616470 NP_110427,EAW77737,EAW77738,BAB55140,CAB66597,AAH07991,AAH37823,Q96SY0,CAL37792 Hs.6686 DKFZP564O1664 protein-coding 1602786 C15orf45 chromosome 15 open reading frame 45 14702039 641318 Q96MF0 NM_001035530,AK057017 NP_001030607,BAB71345,Q96MF0 Hs.671908 FLJ32455 protein-coding 1601736 C15orf48 chromosome 15 open reading frame 48 This gene was identified by its low or completely missing expression in esophageal squamous cell carcinomas. Normal expression of the gene occurs in the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. 12209954,15489334,12477932 84419 CS300715,AB026707,AF228422,AK026298,BC021173,CA865860,NM_032413,NM_197955,AC025580,CH471082 CAK32379,BAB61021,AAK00708,AAH21173,Q9C002,ABM82120,ABM85294,NP_115789,NP_922946,EAW77312,EAW77313 Hs.112242 FLJ22645|FOAP-11|MGC32925|NMES1 protein-coding 1348126 C15orf5 chromosome 15 open reading frame 5 81698 NM_030944,AL109679 GDB:11504683 1603141 C15orf50 chromosome 15 open reading frame 50 12477932 414926 BC031958 Q8NED7 Hs.569502 MGC42951 protein-coding 1605267 C15orf51 chromosome 15 open reading frame 51 15008788,12477932 196968 NR_003260,AC090825,AK125787,AK127834,AL833912,BC101078,BC101080,BC101081 BAC87154,CAD38768,AAI01079,Q495P3,Q6ZS02,Q8NDG8 Hs.567763,Hs.585319 DKFZp434I1020|FLJ45937|MGC119618 pseudo 1602266 C15orf52 chromosome 15 open reading frame 52 16344560,12477932,8889548 388115 NM_207380,AC013356,CH471125,AK124643,AK125329,AK126035,AK126485,BC015670,BM716672,BQ690903,BU618720,CR749408,DA106198,DA892533 NP_997263,EAW92404,EAW92405,BAC86132,BAC86405,BAC86563,CAH18251,Q6ZUT6 Hs.32433 DKFZp686N1468|FLJ43339 flj43339 protein protein-coding 1601684 C15orf53 chromosome 15 open reading frame 53 14702039,12477932 400359 NM_207444,AC104261,CH471125,AK093014,BC119016,BC119810 NP_997327,EAW92373,BAC04019,AAI19017,AAI19811,Q8NAA6 Hs.448785 FLJ35695|MGC148119 protein-coding 1601683 C15orf54 chromosome 15 open reading frame 54 14702039 400360 NM_207445,AC013652,CH471125,AK096850,BX647708 NP_997328,EAW92378,BAC04876,Q8N8G6 Hs.376109 FLJ39531 protein-coding 1605553 C15orf55 chromosome 15 open reading frame 55 12543779,12477932,17934517,15994877 256646 NM_175741,AC021822,AC025678,CH471125,AF482429,AK098568,AL137416,BC033392,BC114518,BC114567 NP_786883,EAW92304,EAW92305,AAO39268,BAC05337,CAB70729,AAH33392,AAI14519,AAI14568,Q86Y26 Hs.525769 DKFZp434O192|MGC138683|MGC138684|NUT protein-coding 2289749 C15orf56 chromosome 15 open reading frame 56 14702039 644809 NM_001039905,AC020658,AK095915 NP_001034994,BAC04647,Q8N910 Hs.631718 FLJ38596 protein-coding 1345370 C16orf10 chromosome 16 open reading frame 10 64493 AW298011 GDB:11504841 protein-coding 1342996 C16orf11 chromosome 16 open reading frame 11 64492 GDB:11504843 1351577 C16orf12 chromosome 16 open reading frame 12 64491 GDB:11504845 1603944 C16orf13 chromosome 16 open reading frame 13 16341674,15342556,14702039,12477932,11157797 84326 NM_001040161,NM_001040162,NM_001040165,NM_001040160,NM_032366,AE006464,CH471112,AI146806,AK057077,AW027232,BC007207,BC047118,BG612714,BM827705,BP276058,BQ921757,BX104467,CK904040,DB499720 NP_001035251,NP_001035252,NP_001035255,NP_001035250,NP_115742,AAK61238,EAW85784,EAW85785,EAW85786,EAW85787,EAW85788,EAW85789,AAH07207,AAH47118,Q96S19,BAB71362 Hs.239500 GDB:11504847 JFP2|MGC13114 protein-coding 1349668 C16orf13 chromosome 16 open reading frame 13 64490 GDB:11504847 1346193 C16orf14 chromosome 16 open reading frame 14 15616553,15489334,14702039,12477932 84331 NM_138418,AL022341,CH471112,AF386504,AK054811,BC001912,BC007346,BC010562,BC111391,CR602674,CR602676,CR608790,CR619805 NP_612427,CAC79467,EAW85779,EAW85780,EAW85781,EAW85782,AAK67346,AAH01912,AAH07346,AAI11392,Q96J99,Q9BUT9 Hs.417710 GDB:11504849 MGC104301|MGC15416|c349E10.1 protein-coding 1344697 C16orf15 chromosome 16 open reading frame 15 64488 GDB:11504851 1353125 C16orf16 chromosome 16 open reading frame 16 64487 GDB:11504853 1351241 C16orf17 chromosome 16 open reading frame 17 64486 GDB:11504855 1347842 C16orf18 chromosome 16 open reading frame 18 64485 GDB:11504857 1353490 C16orf19 chromosome 16 open reading frame 19 64484 GDB:11504859 1353722 C16orf2 chromosome 16 open reading frame 2 749 GDB:9835573 1345079 C16orf20 chromosome 16 open reading frame 20 64483 GDB:11504861 1347623 C16orf21 chromosome 16 open reading frame 21 64482 GDB:11504863 1343313 C16orf24 chromosome 16 open reading frame 24 16169070,15489334,12477932,11157797 65990 NM_023933,AE006464,CH471112,Z98258,AK123186,BC001181,BC002624 NP_076422,AAK61248,EAW85746,CAM26478,BAC85550,AAH01181,AAH02624,Q9BQD7 Hs.166244 GDB:11504869 MGC2494 protein-coding 1344022 C16orf27 chromosome 16 open reading frame 27 64740 GDB:11504875 1348125 C16orf28 chromosome 16 open reading frame 28 16344560,15761153,15616553,15489334,14702039,12477932,11157797,8889548 65259 BC000150,BQ776895,CF136587,DA558634,DA739764,AE006467,AL031709,AL031721,CH471112,AK022685,AK027013,NM_023076 AAH00150,Q9H9P5,BAB15626,AAK61278,EAW85662,EAW85663,EAW85664,BAB14178,NP_075564 Hs.598368,Hs.643536 GDB:11504877 FLJ23360 protein-coding 1349511 C16orf29 chromosome 16 open reading frame 29 64738 GDB:11504879 1352089 C16orf3 chromosome 16 open reading frame 3 15489334,12477932,9790751 750 NM_001214,AC133919,CH471184,AF050080,AF050081,BC093751,BC104849 NP_001205,EAW66662,AAC69520,AAC69521,AAH93751,AAI04850,O95177 Hs.633032 GDB:9835569 MGC132509 protein-coding 1353054 C16orf31 chromosome 16 open reading frame 31 64736 GDB:11504883 1344699 C16orf32 chromosome 16 open reading frame 32 64735 GDB:11504885 1322103 C16orf33 chromosome 16 open reading frame 33 15146077,16728641,15616553,15489334,14702039,12477932 79622 BC001381,AE006462,CH471112,DQ431198,Z69719,AF289607,AK026593,BC009179,BK005201,CR590942,NM_024571,CR594984,CR609842,CR613103,CR620069,Z84714 AAH01381,NP_078847,AAK61211,EAW85877,EAW85878,ABD95904,CAI95606,AAL55791,BAB15505,AAH09179,DAA05499,Q4TT61,Q8WYY5,Q8WZ20,Q9BV90,ABM83055,ABM83263,ABM86248 Hs.15277 GDB:11504887 FLJ22940 protein-coding 1606330 C16orf35 chromosome 16 open reading frame 35 16728641,16344560,15616553,14702039,12477932,8575760 8131 NM_001077350,NM_001039476,CH471112,DQ431198,Z69666,Z69720,Z84722,AK026990,AK125420,BC004185,BC012825,BC020392,DA658076,X90857,AK090717 NP_001070818,NP_001034565,EAW85865,EAW85867,EAW85868,ABD95907,CAI95611,CAI95612,CAB06556,AAH04185,AAH12825,CAA62368,P78384,Q12980,Q4TT55,Q4TT75,Q9BTE2 Hs.19699 GDB:9954543 CGTHBA protein-coding 1351302 C16orf37 chromosome 16 open reading frame 37 64728 GDB:11504895 1353206 C16orf38 chromosome 16 open reading frame 38 64727 GDB:11504897 1352414 C16orf42 chromosome 16 open reading frame 42 15616553,15489334,12477932,11157797 115939 NM_001001410,AE006467,AL031709,CH471112,BC011785,BC013943,BC016699,BC017325 NP_001001410,AAK61276,CAB56183,EAW85669,AAH13943,AAH16699,AAH17325,Q9UJK0 Hs.134846 GDB:11504905 MGC24381 protein-coding 1353914 C16orf43 chromosome 16 open reading frame 43 64720 GDB:11504907 1350475 C16orf44 chromosome 16 open reading frame 44 15489334,14702039,12477932 79786 NM_024731,AC009116,CH471114,AK022605,AK074056,AK122745,BC032400,BC033821 NP_079007,EAW95473,EAW95474,BAB14124,BAB84882,AAH32400,AAH33821,Q8N4N3,Q8TER6,ABZ92060 Hs.578546 GDB:11505362 FLJ12543 protein-coding 1345550 C16orf45 chromosome 16 open reading frame 45 15489334,14702039,12477932,10493829 89927 AK057180,BC008967,BC023603,CR616063,CR623458,NM_033201,AC026401,AC140504,CH471226,U95740 BAB71376,AAH08967,AAH23603,Q96MC5,NP_149978,EAW53916,EAW53917,EAW53918,AAC31663 Hs.460095 FLJ32618 protein-coding 1345260 C16orf46 chromosome 16 open reading frame 46 16344560,14702039,12477932 123775 NM_001100873,NM_152337,AC092718,CH471114,AA905107,AK057264,BC064143,DA525473 NP_001094343,NP_689550,EAW95548,BAB71401,AAH64143,Q6P387 Hs.658684 FLJ32702 protein-coding 1344443 C16orf47 chromosome 16 open reading frame 47 388289 NM_207385,AK129695 1353138 C16orf48 chromosome 16 open reading frame 48 737633 11256614,16381901,16189514,15489336,15489334,12975309,12477932,11230166,11076863 737633 84080 NM_032140,AC010530,CH471092,AL136786,AY358834,BC008284,CR593678,CR594362,CR600584,CR601752,CR614373,CR618514,CR624394 NP_115516,EAW83156,CAB66720,AAQ89193,AAH08284,Q9H0I2,CAL37957 Hs.307084 DAKV6410|DKFZP434A1319 protein-coding 1321732 C16orf5 chromosome 16 open reading frame 5 17599062,10570909,16344560,15489334,12477932,11230166 29965 NM_013399,AC007606,AC023830,CH471112,AF131218,AF195661,AK292036,AL136698,AL833853,BC002882,BC007604,CR533446,DA055704,DQ167023 NP_037531,EAW85291,EAW85292,EAW85293,EAW85294,EAW85295,EAW85296,EAW85297,EAW85298,AAF26619,AAG35583,BAF84725,CAB66633,CAD38712,AAH02882,AAH07604,CAG38477,AAZ94626,Q9H305 Hs.654653 CDIP|I1 protein-coding 1606780 C16orf53 chromosome 16 open reading frame 53 C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM] 17500065,17081983,15489334,15302935,12477932 79447 NM_024516,AC009133,AC120114,CH471238,AK026112,AL549915,BC003640,BC150579,CA455544,CR592692,CR609250,CR610997,CR616503,CR619090,CR619145,EF195235 NP_078792,EAW79989,AAH03640,ABM69249,Q9BTK6 Hs.702841 FLJ22459|MGC4606|PA1 protein-coding 1605828 C16orf54 chromosome 16 open reading frame 54 16344560,15489334,14702039,12975309,12477932 283897 NM_175900,AC009133,AK093000,AY358833,BC025741,BC104466,BC104467,DA427069 NP_787096,BAC04015,AAQ89192,AAI04467,AAI04468,Q6UWD8 Hs.331095 FLJ35681|MGC129957|MGC129958 protein-coding 1602656 C16orf55 chromosome 16 open reading frame 55 14702039,12477932 124045 NM_153025,AC010538,CH471184,AK056168,AK125673,AK128803,BC045670,BC148299 NP_694570,EAW66713,EAW66714,BAB71109,AAH45670,AAI48300,Q86XC3,Q96N06 Hs.655171 FLJ31606 protein-coding 1606230 C16orf57 chromosome 16 open reading frame 57 15489334,15231748,14702039,12477932,16189514 79650 NM_024598,AC010543,AC012182,CH471092,AK023216,AK126223,BC004415,BC006291,BC007774,BC010099,BC021554,BM193105,CR622733 NP_078874,EAW82962,EAW82963,EAW82964,BAB14469,BAC86495,AAH04415,AAH06291,AAH07774,AAH10099,AAH21554,Q6ZTT4,Q9BQ65 Hs.588873 FLJ13154 protein-coding 1601979 C16orf58 chromosome 16 open reading frame 58 15489334,14702039,12477932,9373149 64755 NM_022744,AC026471,CH471192,AK000679,AK023930,AK092580,AK222913,AL834462,BC000822,BC009308,CR593188 NP_073581,EAW52119,EAW52120,EAW52121,EAW52122,BAB14730,BAC03918,BAD96633,AAH00822,AAH09308,Q96GQ5 Hs.9003 FLJ13868 protein-coding 1604787 C16orf59 chromosome 16 open reading frame 59 14702039,12477932 80178 AC106820,CH471112,AK023971,AK093788,AK128408,AL559561,BC008882,BC018719,CR457319,CR599650,CR601597,CR606973,CR607565,CR608926,CR609393,CR612076,NM_025108,CR624428,CR624818,CR625521 NP_079384,EAW85505,EAW85506,EAW85507,EAW85508,EAW85509,BAB14745,BAC87425,AAH08882,AAH18719,CAG33600,Q6ZR89,Q7L2K0 Hs.534491 FLJ13909 protein-coding 1353331 C16orf6 chromosome 16 open reading frame 6 26588 1601986 C16orf61 chromosome 16 open reading frame 61 15489334,12477932 56942 NM_020188,AC009079,AC092718,CH471114,AF201935,AK123193,BC032631,CR594333 NP_064573,EAW95557,EAW95558,EAW95559,EAW95560,EAW95561,AAF86871,AAH32631,Q9NRP2,ABM81706,ABM84865 Hs.388255 2310061C15Rik|DC13 protein-coding 1603979 C16orf62 chromosome 16 open reading frame 62 14702039,12477932,11230166,10493829 57020 NM_020314,AC002550,AC012621,AK024693,AK095078,AK290286,AL136744,AL832159,AL833428,BC014900,BC050464,BC058845,BX537867,CR590873,CR620808,CH471186,AF461052 NP_064710,AAC05806,AAL67806,BAB14965,BAF82975,CAB66678,CAH10399,AAH14900,AAH50464,AAH58845,CAD97869,Q7Z3J2,EAW50289,EAW50290,EAW50291 Hs.654964 DKFZp313M0539|DKFZp434B0212|FLJ21040|MGC16824 protein-coding 1606173 C16orf63 chromosome 16 open reading frame 63 15489334,14702039,12477932 123811 AK055715,AK056798,AL832498,AY507846,BC022321,CR611801,CR626394,NM_144600,AC130651,CH471226 EAW53934,EAW53935,BAB70994,AAR98812,AAH22321,Q96NB1,NP_653201 Hs.514179 DKFZp686N1651|FLJ31153 protein-coding 1604496 C16orf65 chromosome 16 open reading frame 65 15616553,15489334,12477932 255762 NM_173806,AC092119,CH471249,BC021724,BC028605,BC039562 NP_776167,EAW50593,AAH21724,AAH28605,AAH39562,Q8IXQ8 Hs.98244 MGC50721 protein-coding 1601964 C16orf68 chromosome 16 open reading frame 68 14702039,12477932 79091 NM_024109,AC007224,AC138420,CH471112,AK022495,AY203956,BC001908,BC103725,CR604742,CR612148,CR621296 NP_077014,EAW85210,EAW85211,EAW85212,BAB14058,AAP34479,AAH01908,Q9BUU2 Hs.306380 FLJ12433|MGC2654 protein-coding 1352238 C16orf7 chromosome 16 open reading frame 7 10231027,16368877,12477932 9605 NM_004913,AC010538,CH471184,AB018551,AI458261,BC052626,BM920493,BY795348,CA428853,CR621709 NP_004904,EAW66694,EAW66695,EAW66696,BAA76711,AAH52626,Q7Z7K1,Q9Y2B5,AAI40443,AAI48702 Hs.164410 GDB:9957778 ATP-BL protein-coding 1604592 C16orf70 chromosome 16 open reading frame 70 16713569,15489334,14702039,14529721,12477932,10846156 80262 AC074143,NM_025187,CH471092,AF176088,AK022138,BC004556 NP_079463,EAW83072,EAW83073,EAW83074,EAW83075,EAW83076,EAW83077,EAW83078,AAK96888,BAB13968,AAH04556,Q9BSU1 Hs.513666 C16orf6|FLJ12076|LIN10|lin-10 protein-coding 1604523 C16orf71 chromosome 16 open reading frame 71 12477932 146562 NM_139170,AC020663,CH471112,AF447587,AK125251,BC035024,BI458862,BX648126 NP_631909,EAW85267,EAW85268,AAM22870,AAH35024,Q8IYS4 Hs.602738 DKFZp686H2240|FLJ43261 protein-coding 1606021 C16orf72 chromosome 16 open reading frame 72 14702039,12477932,8889548 29035 NM_014117,AC087190,CH471112,AK123266,BC029878,BC113570,BI831003,BM975140,CB959956,CR602153,CR613493 NP_054836,EAW85189,EAW85191,AAI13571,Q14CZ0,Q9UI82 Hs.221497 FLJ41272|PRO0149 protein-coding 1604193 C16orf73 chromosome 16 open reading frame 73 12477932,11157797 254528 NM_152764,AE006639,AL031722,AL132823,AL499628,CH471112,BC029829 NP_689977,AAK61296,EAW85604,EAW85605,EAW85606,EAW85607,AAH29829,Q8N635,ABM82225,ABM85409 Hs.662737 MGC35212|gs129 protein-coding 1606366 C16orf74 chromosome 16 open reading frame 74 16189514,15489334,12477932,12107413 404550 NM_206967,AC018695,CH471114,CQ800176,AW072412,BC009078,CD674248 NP_996850,EAW95441,EAW95442,CAG27584,AAH09078,Q96GX8 Hs.461655 MGC17624 protein-coding 1606180 C16orf75 chromosome 16 open reading frame 75 12477932 116028 NM_152308,AC009121,CH471112,AK123764,BC013040,BC022427,BC031016,BC039361,CR592375,CR593562,CR598957,CR611079,CR620636,CR626010,CR626823 NP_689521,EAW85155,AAH13040,AAH22427,AAH31016,AAH39361,Q96E14 Hs.347524 MGC24665 protein-coding 1602184 C16orf77 chromosome 16 open reading frame 77 Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM] 18467591,16713569,12477932 146433 NM_152456,AC020763,CH471241,AK172744,BC029804,CR592247,CR615780,EU636994 NP_689669,EAW51800,EAW51801,EAW51802,BAD18731,AAH29804,ACD13452,Q6ZMJ4 Hs.461214 IL34|MGC34647 protein-coding 1605880 C16orf78 chromosome 16 open reading frame 78 12477932 123970 NM_144602,AC007614,CH471092,BC021181,BC021718 NP_653203,EAW82734,AAH21181,AAH21718,Q8WTQ4 Hs.125875 MGC33367 protein-coding 1602822 C16orf79 chromosome 16 open reading frame 79 12477932 283870 NM_182563,AC009065,CH471112,AY597811,BC039154 NP_872369,EAW85535,EAW85536,AAT09004,AAH39154,Q6PL45 Hs.647399 MGC21830 protein-coding 1605686 C16orf80 chromosome 16 open reading frame 80 8688464,15324660,12477932 29105 AF093680,AK027099,AV751497,BC005152,CR595445,CR596631,CR604557,CR612011,CR613931,CR623489,CR626042,NM_013242,AC009107,AC012182,AC026771,CH471092,AF087845 AAD40382,AAH05152,Q9Y6A4,ABZ92321,NP_037374,EAW82967,AAP97158 Hs.532755 EVORF|GTL3 protein-coding 1605831 C16orf81 chromosome 16 open reading frame 81 14702039 283860 XM_001126835,XM_001719860,XM_001134340,AC009113,AK094020 XP_001126835,XP_001719912,XP_001134340,BAC04270,Q8N9R0 Hs.647386 FLJ36701 protein-coding 1602175 C16orf82 chromosome 16 open reading frame 82 15489334,12477932 162083 NM_182831,AC092725,CH471145,AF536240,BC031257 NP_878251,EAW55761,AAP97728,AAH31257,Q7Z2V1 Hs.120831 TNT protein-coding 1604165 C16orf84 chromosome 16 open reading frame 84 12477932 348180 BC125269,BC157881,BM554780,BQ430809,CR589988,CR592449,CR597995,CR601936,CR602695,NM_001012759,NM_001012762,AC138028,CH471184,BC021056,BC021829,BC044951,BC063512,BC080540,BC108659,BC121805 AAI57882,AAI25270,Q2VPK5,NP_001012777,NP_001012780,EAW66775,EAW66776,EAW66777,EAW66778,EAW66779,EAW66780,AAH44951,AAH63512,AAH80540,AAI08660,AAI21806 Hs.592074 MGC131681|MGC148063|MGC148064 protein-coding 1606639 C16orf85 chromosome 16 open reading frame 85 400555 NM_001001682,AC116552,AK127438 NP_001001682,BAC86980,Q6ZSH3,AAI48582,AAI53154 Hs.120392 FLJ45530 protein-coding 1604692 C16orf86 chromosome 16 open reading frame 86 12477932 388284 AC010530,CH471092,NM_001012984,AK123796,BC032064,BC041612,BC064498,BC082249,BC132878,BC132880,CA432406 NP_001013002,EAW83162,EAW83163,EAW83164,BAC85694,Q6ZW13 Hs.632208 protein-coding 1353497 C17orf10 chromosome 17 open reading frame 10 53396 1344830 C17orf11 chromosome 17 open reading frame 11 53395 AJ276251 protein-coding 1348105 C17orf12 chromosome 17 open reading frame 12 53394 AJ276252 Hs.684572 protein-coding 1347951 C17orf13 chromosome 17 open reading frame 13 53393 AJ276253,BX119309,BX502008 Hs.659206 protein-coding 1351090 C17orf14 chromosome 17 open reading frame 14 53392 AJ276255 protein-coding 1348490 C17orf15 chromosome 17 open reading frame 15 53391 1351954 C17orf16 chromosome 17 open reading frame 16 53390 1346325 C17orf17 chromosome 17 open reading frame 17 53389 1349410 C17orf18 chromosome 17 open reading frame 18 53388 1354402 C17orf19 chromosome 17 open reading frame 19 53387 1602729 C17orf2 chromosome 17 open reading frame 2 10673334 8316 U53930 GDB:9864253 protein-coding 1350625 C17orf20 chromosome 17 open reading frame 20 53386 1343641 C17orf21 chromosome 17 open reading frame 21 53385 1346844 C17orf22 chromosome 17 open reading frame 22 53384 1346283 C17orf23 chromosome 17 open reading frame 23 53383 1322878 C17orf28 chromosome 17 open reading frame 28 16344560,16189514,15489334,14702039,12477932,11281419,10562567 283987 NM_030630,AC087651,CH471099,AK074401,AK075111,AK095565,AK125514,AL137556,BC032219,BC035372,BX496609,DA336027 NP_085133,EAW89217,EAW89218,EAW89219,EAW89220,EAW89221,BAB85070,BAC11407,CAB70810,AAH32219,AAH35372,Q8IV36,Q8NC03 Hs.11067 GDB:11510511 DMC1|FLJ43526 protein-coding 1347909 C17orf33 chromosome 17 open reading frame 33 170794 GDB:11505376 1315438 C17orf37 chromosome 17 open reading frame 37 737633 17503775,17121940,17117180,15489334,15010812,12739007,12477932 737633 84299 AC079199,CH471152,AA010615,AF490253,NM_032339,AJ308025,AJ308026,AL554581,AY508814,BC006006,BX646129,CR613484 NP_115715,EAW60598,EAW60599,AAO85461,AAR92035,AAH06006,Q9BRT3 Hs.333526 C35|MGC14832|ORB3|RDX12|XTP4 protein-coding 1322085 C17orf39 chromosome 17 open reading frame 39 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. 737633 15489334,14702039,12477932,11997338,11840190 737633 79018 NM_024052,AC087163,AC087164,CH471196,AK074284,AK127580,BC000636,BC041829,CR605709 NP_076957,EAW55673,EAW55674,BAB85036,AAH00636,AAH41829,Q8IVV7 Hs.187422 MGC3048 protein-coding 1352014 C17orf4 chromosome 17 open reading frame 4 53402 1605945 C17orf42 chromosome 17 open reading frame 42 17632510,16344560,12477932,11468690,10843809,9373149,8125298 79736 AC091177,AC130324,CH471147,AF086465,AJ314645,AK026382,AK225474,BC009025,BC024328,BC064631,BC073169,BQ003763,NM_024683,CR457360,CR590477,CR602324,CR619488,DA647699 NP_078959,EAW80290,EAW80291,EAW80292,CAC44534,BAB15468,AAH09025,AAH24328,AAH73169,CAG33641,Q6GPG5,Q6PJ19,Q96H04,Q96QE5,Q9H5Z9 Hs.317340 FLJ22729|MGC24674 protein-coding 1606168 C17orf45 chromosome 17 open reading frame 45 12477932,10393949 125144 AC093484,CH471222,AJ012499,AK098643,BC012396,BC019833,BC027986,BC040159,BX538291,NM_152350,CR590510,CR591104,CR592897,CR596839,CR596984,CR604967,CR608772,CR609832,CR616072,CR617187,CR617966,CR619468,CR622208 NP_689563,EAX04510,EAX04511,EAX04512,EAX04513,EAX04514,EAX04515,AAH12396,AAH19833,AAH27986,AAH40159,Q8N1F1,Q8WUR1,CAD98086,Q7Z306,Q96EF2 Hs.368934 FLJ25777|MGC40157 protein-coding 1603588 C17orf46 chromosome 17 open reading frame 46 15489334,15342556,14702039,12477932 124783 NM_152343,AC008105,CH471178,AF433663,AK058143,BC028124,BP369808,BP370574 NP_689556,EAW51532,AAP97314,BAB71683,AAH28124,Q96LK8 Hs.412719 FLJ25414 protein-coding 1605244 C17orf47 chromosome 17 open reading frame 47 14702039,12477932 284083 NM_001038704,AC005666,AK097440,BC022189 NP_001033793,BAC05054,AAH22189,Q8NEP4 Hs.646574 FLJ40121 protein-coding 1604325 C17orf48 chromosome 17 open reading frame 48 16344560,12477932 56985 NM_020233,AC002347,CH471108,AB073393,AF168715,BC001294,BC070155,CR605738,CR612920,DA280275,DA305828 NP_064618,EAW89995,EAW89996,BAE45723,AAF87317,AAH01294,AAH70155,Q3LIE5 Hs.47668 MDS006|NBLA03831 protein-coding 1606738 C17orf49 chromosome 17 open reading frame 49 16964243,15489334,14702039,12477932 124944 NM_174893,AC040977,AK055800,BC040036,CR618891 NP_777553,AAH40036,Q8IXM2,Q9P0C7 Hs.511801 MGC49942 protein-coding 1348577 C17orf5 chromosome 17 open reading frame 5 53401 1603574 C17orf50 chromosome 17 open reading frame 50 15489334,12477932 146853 NM_145272,AC006237,CH471147,AI004987,AY557347,BC021727,DB452451 NP_660315,EAW80130,AAS67921,Q8WW18,AAI56775 Hs.127194 protein-coding 1601699 C17orf51 chromosome 17 open reading frame 51 16625196,15489334,14702039,12477932 339263 XM_378661,XM_001725854,XM_944416,NM_001113434,AC138710,AK023039,AK056436,AK090937,AK123143,BC010612,BC019938,BC040371,BC052777,BC053952,BC132738,BC136630,BX640850 XP_378661,XP_001725906,XP_949509,NP_001106905,AAI32739,AAI36631,A8MQB3,Q8WUN0,Q96FP1 Hs.514016 FLJ12977|FLJ31874|FLJ33618 protein-coding 1602634 C17orf52 chromosome 17 open reading frame 52 12477932 283994 BC038218 Hs.645372 protein-coding 1602101 C17orf53 chromosome 17 open reading frame 53 14702039,12477932 78995 NM_024032,AC004596,CH471178,AK021656,AK291924,AL834295,BC000121 NP_076937,EAW51629,EAW51630,EAW51631,EAW51632,BAB13867,BAF84613,CAD38968,AAH00121,Q8N3J3 Hs.437059 FLJ11594|MGC3130 protein-coding 1605548 C17orf54 chromosome 17 open reading frame 54 15489334,14702039,12477932 283982 NM_182564,AC125421,CH471099,AK097638,BC101213,BC101214,BC101215 NP_872370,EAW89134,EAW89135,BAC05128,AAI01214,AAI01215,AAI01216,Q8N7U9 Hs.464079 FLJ40319|MGC120127 protein-coding 1602280 C17orf55 chromosome 17 open reading frame 55 14702039,12477932 284185 NM_178519,AC027601,CH471099,AK096740,BC108932,BC108933 NP_848614,EAW89645,EAW89646,BAC04855,AAI08933,AAI08934,Q8N8I6 Hs.631762 FLJ39421|MGC120553|MGC120556 protein-coding 1601823 C17orf56 chromosome 17 open reading frame 56 14702039,12477932,9710619 146705 NM_144679,AC027601,CH471099,AK056090,AK127221,AK128728,BC037231,BC042155,BC064483,CR594729 NP_653280,EAW89634,EAW89635,EAW89636,EAW89637,EAW89638,BAB71091,BAC86888,BAC87593,AAH64483,Q96N21 Hs.631761 FLJ31528 protein-coding 1606737 C17orf57 chromosome 17 open reading frame 57 15489334,12477932 124989 NM_152347,AC040934,AC068234,AK097661,BC036407,BC037876,BC044604,BX537519 NP_689560,BAC05135,AAH36407,AAH37876,CAD97771,Q7Z3R0,Q8IY85,Q8N7U2 Hs.463303 FLJ40342 protein-coding 1605250 C17orf58 chromosome 17 open reading frame 58 15489334,12477932 284018 NM_181655,AC134407,AK026583,BC021702,BC036760,BC105124,BC112073,NM_181656,BX364842,CR592488,CR594326 NP_858042,NP_858041,AAH36760,AAI05125,AAI12074,Q2M2W7 Hs.90790 MGC138278 protein-coding 1603302 C17orf59 chromosome 17 open reading frame 59 12477932,9373149 54785 NM_017622,AC129492,AK000021,AK222506,BC009261,BC018880,BC070272 NP_060092,BAA90889,BAD96226,AAH09261,AAH18880,AAH70272,Q96GS4,Q9P1D2 Hs.129563 FLJ20014|PRO2472 protein-coding 1349752 C17orf6 chromosome 17 open reading frame 6 53400 AJ276246 Hs.684568 protein-coding 1605249 C17orf60 chromosome 17 open reading frame 60 12477932 284021 NM_001085423,AC138744,CS255953,BC018972,BC053534,BC130406,BE296352,CD687595 NP_001078892,CAJ75916,AAH53534,AAI30407,Q7Z6M3 Hs.631749 MGC163278 protein-coding 1606934 C17orf61 chromosome 17 open reading frame 61 12477932 254863 NM_152766,AC113189,CH471108,BC030270 NP_689979,EAW90201,AAH30270,Q8N2U0,Q8WYZ0 Hs.534591 MGC40107 protein-coding 1606782 C17orf62 chromosome 17 open reading frame 62 16344560,15489334,14702039,12878157,12477932,9373149,8125298 79415 AF269290,AK027743,AK054876,AK056342,AK074950,AK090484,AK092865,AK225389,AU280357,BC003595,NM_001100408,NM_001033046,NM_001100407,AC132938,CH471099,BC004171,BM801484,CR611733,CR611760,DA342707,DA500882 EAW89786,EAW89787,EAW89788,EAW89784,EAW89785,EAW89789,EAW89790,AAG23173,BAB55335,BAB70818,BAB71156,BAC03465,AAH03595,NP_001093878,NP_001028218,NP_001093877,EAW89776,EAW89777,EAW89778,EAW89779,EAW89780,EAW89781,EAW89782,EAW89783,AAH04171,Q8NEZ9,Q8WY47,Q969P4,Q96NR1,Q9BQA9 Hs.163113 FLJ00406|FLJ90469|MGC4368 protein-coding 1603991 C17orf63 chromosome 17 open reading frame 63 16344560,15489334,14702039,12477932 55731 NM_001077498,AC010761,AC024267,CH471159,AK000147,AK001562,AK025980,AK057665,AK095569,BC021228,BX647766,CB156081,DA185693,DA787679,NM_018182 NP_060652,EAW51143,EAW51144,EAW51145,BAA90974,BAA91757,BAB15306,AAH21228,Q8WU58,NP_001070966 Hs.564533 FLJ10700 protein-coding 1603589 C17orf64 chromosome 17 open reading frame 64 12477932 124773 NM_181707,AC037475,CH471179,BC036356,BC048806 NP_859058,EAW51405,AAH36356,AAH48806,Q86WR6 Hs.129312 protein-coding 1603501 C17orf65 chromosome 17 open reading frame 65 14702039,12477932 339201 NM_178542,AC004596,AL833953,CH471178,AK055685,BC009448,BC100964,BC100965,BC100966,BC100967,CB151608 NP_848637,EAW51625,EAW51626,AAH09448,AAI00965,AAI00966,AAI00967,AAI00968,Q495Z4 Hs.656564 DKFZp762C2414|MGC119234 protein-coding 1604716 C17orf66 chromosome 17 open reading frame 66 14702039,12477932 256957 NM_152781,AC015849,CH471147,AK057392,BC033734,BC132681,BX114438 NP_689994,EAW80121,EAW80122,EAW80123,BAB71466,AAH33734,AAI32682,A2RTY3 Hs.514820 FLJ32830 protein-coding 1603500 C17orf67 chromosome 17 open reading frame 67 12477932 339210 NM_001085430,AC106858,CH471109,BC041467,BC093905,BC093907,CA308560,CR612053 NP_001078899,EAW94527,AAH93905,AAH93907,Q0P5P2 Hs.658949 protein-coding 1604790 C17orf68 chromosome 17 open reading frame 68 16344560,14702039,12477932,10737800,9373149 80169 NM_025099,AC135178,CH471108,AK025823,AK091077,AK225375,AL831955,BC026057,BC110373,BC111783,BF798182,DA313518,DB126489,DQ451688 NP_079375,EAW90070,EAW90071,BAB15247,CAD38600,AAH26057,AAI10374,AAI11784,ABE02809,Q2NKJ3 Hs.156055 FLJ22170|MGC133331 protein-coding 1603265 C17orf69 chromosome 17 open reading frame 69 14702039,12477932 147081 Q96LR1 AK090656,BC069230,NM_152466,AC126544,AK057897 BAB71609,Q96LR1,NP_689679 Hs.128813,Hs.666221 FLJ25168 protein-coding 1346268 C17orf7 chromosome 17 open reading frame 7 53399 1604593 C17orf70 chromosome 17 open reading frame 70 FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM] 17396147,15146197,14702039,12973351,12477932,9373149,8125298 80233 NM_001109760,NM_025161,AC139149,CH471099,AK024644,AK025828,AK054713,AK225370,AL834374,BC001724,BC008883,BC021968,BC117139,BC117141,CN366430,DQ989324 NP_001103230,NP_079437,EAW89655,EAW89656,EAW89657,EAW89658,EAW89659,EAW89660,BAB14944,BAB15251,CAD39037,AAH01724,AAH21968,AAI17140,AAI17142,ABK88282,Q0VG06 Hs.313905 FAAP100|FLJ22175|FLJ30151 protein-coding 1602698 C17orf71 chromosome 17 open reading frame 71 14702039,12477932 55181 NM_018149,AC099850,CH471109,AF349467,AK001449,AK026858,AL834490,BC020957,BC031604 NP_060619,EAW94413,EAW94414,EAW94415,AAL83913,BAA91699,BAB15576,CAD39148,AAH20957,AAH31604,Q8ND04 Hs.7296 FLJ10587 protein-coding 1603374 C17orf72 chromosome 17 open reading frame 72 14702039,12477932 92340 XM_001724631,XM_001724632,XM_001726065,XM_001726066,NR_015354,AC005803,AK021786,AL161972,BC030709,BC045676,XM_001726842,XM_001726843 XP_001726895,XP_001724683,XP_001724684,XP_001726117,XP_001726118,XP_001726894 Hs.708161 DKFZp761M2312|FLJ11724 miscrna 1604207 C17orf74 chromosome 17 open reading frame 74 12477932 201243 NM_175734,AC113189,CH471108,BC031286,BC044816,BC048010 NP_783861,EAW90191,EAW90192,EAW90193,AAH31286,Q0P670 Hs.380704 protein-coding 1602870 C17orf75 chromosome 17 open reading frame 75 15489334,12477932,9110174,8619474 64149 AB062437,AF052093,AF305686,BC026017,BC035715,BC047325,BC054035,CD706845,CR599009,CR618435,NM_022344,AC005899,CH471147 BAB93500,AAG23214,AAH26017,AAH35715,AAH47325,AAH54035,Q8NI83,Q9HAS0,NP_071739,EAW80238 Hs.655257 NJMU-R1 protein-coding 1604449 C17orf76 chromosome 17 open reading frame 76 14702039 388341 NM_207387,NM_001113567,AC093484,AC127540,CH471222,AK093015,AL833245,AL833260,BF966204,DB460063,DN997688 NP_997270,NP_001107039,EAX04516,EAX04517,BAC04020,Q8NAA5 Hs.25425 FLJ35696 protein-coding 1603896 C17orf77 chromosome 17 open reading frame 77 14702039 146723 NM_152460,AC079325,CH471099,AK056444 NP_689673,EAW89172,BAB71184,Q96MU5,AAI48445,AAI53034 Hs.350775 FLJ31882 protein-coding 1602416 C17orf78 chromosome 17 open reading frame 78 14702039,12477932 284099 NM_173625,AC068400,CH471199,AK096966,BC034672 NP_775896,EAW57585,EAW57586,BAC04914,AAH34672,Q8N4C9 Hs.439154 FLJ39647|MGC34759 protein-coding 1602321 C17orf79 chromosome 17 open reading frame 79 18404153,17632510,12477932,10843809 55352 NM_018405,AC004253,CH471147,AF407672,AJ272196,AK024772,BC012386,BC035483 NP_060875,EAW80260,EAW80261,EAW80262,EAW80263,AAK97661,CAB77267,AAH12386,Q9NQ92 Hs.462729 COPR5|FLJ21119|HSA272196|TTP1 protein-coding 1344979 C17orf8 chromosome 17 open reading frame 8 53398 1602883 C17orf80 chromosome 17 open reading frame 80 17213182,16381901,15489336,12477932,11230166,11076863,8889548 55028 NM_017941,NM_001100621,NM_001100622,AC087301,AC097641,CH471099,AK000728,AK027166,AK292838,AL136740,AY163812,AY239293,BC005005,BU736238,BU788930,CR612666,DT220543 NP_060411,NP_001094091,NP_001094092,EAW89117,EAW89118,EAW89119,EAW89120,BAA91344,BAB15680,BAF85527,CAB66674,AAO25513,AAP72185,AAH05005,Q9BSJ5,CAL38003 Hs.12929 FLJ20721|HLC-8|MIG3 protein-coding 1606812 C17orf81 chromosome 17 open reading frame 81 16713569,16850183,15489334,12477932,11042152,9373149,8889548,8125298 23587 BE743557,BF982004,NM_203415,NM_203414,NM_015362,NM_203413,AC003688,CH471108,AB013910,AF070658,AF087868,AF163262,AK225983,AK289940,AL713741,BC002762,BQ648358,BM970924,CA431021,CA450318,CF135215,CR603123,CR612110 AAH02762,NP_981960,NP_981959,NP_056177,NP_981958,EAW90230,EAW90231,EAW90232,BAB87800,AAD20964,AAM10496,AAQ13591,BAF82629,CAH56280,Q8TE02 Hs.417029 DERP6|HSPC002|MST071|MSTP071 protein-coding 1601914 C17orf82 chromosome 17 open reading frame 82 12477932 388407 NM_203425,AC005746,CH471179,BC046200 NP_982249,EAW51427,AAH46200,Q86X59 Hs.434459 protein-coding 1602088 C17orf84 chromosome 17 open reading frame 84 84185 Q9H656 AK026247 BAB15410,Q9H656 Hs.684545 FLJ22594 protein-coding 1604808 C17orf85 chromosome 17 open reading frame 85 16344560,14702039,12477932,11412301,9373149,8125298 55421 NM_018553,NM_001114118,AC116914,CH471108,CS185602,AJ277841,AK125048,AK223470,BC010707,BC011733,DA815746,DA855232 NP_061023,NP_001107590,EAW90477,EAW90478,EAW90479,CAJ42783,CAB91001,BAD97190,AAH10707,Q53F19,AAI46420,AAI48857 Hs.120963,Hs.649759 ELG|HSA277841 protein-coding 1604451 C17orf87 chromosome 17 open reading frame 87 14702039,12975309,12477932 388325 NM_207103,AC087500,CH471108,AK057142,AY358809,BC127925,BC130554,BC130556,CR612993,DQ778084 NP_996986,EAW90348,EAW90349,EAW90350,BAB71370,AAQ89169,AAI27926,AAI30555,AAI30557,ABI63348,Q6UWF3 Hs.462080 FLJ32580|MGC163426|MGC163428|UNQ5783 protein-coding 1626571 C17orf89 chromosome 17 open reading frame 89 17287340,12477932 284184 NM_001086521,AC027601,CH471099,AA534550,BC079831,BC127837 NP_001079990,EAW89640,AAI27838,A1L188 Hs.356545 protein-coding 1353586 C17orf9 chromosome 17 open reading frame 9 53397 2290031 C17orf90 chromosome 17 open reading frame 90 12477932,9110174,8619474 339229 NM_001039842,AC139530,AY007126,BC038412,BC048102,BC090923 NP_001034931,AAH90923,Q5BKU9 Hs.655241 MGC104712 protein-coding 1605910 C17orf91 chromosome 17 open reading frame 91 12477932,9110174,8619474 84981 NM_001001870,NM_032895,AC130343,CH471108,AF070569,BC007813,BC070225,BC119720,BC119721,BI756450,BX640650,BX648321,CR591309 NP_001001870,NP_116284,EAW90585,EAW90586,AAI19721,AAI19722,Q0VDD5 Hs.597755 DKFZp686O06159|MGC14376|MGC149751 protein-coding 2291822 C17orf93 chromosome 17 open reading frame 93 12746837 360205 AF532777 P0C665 Hs.236557 PRAC2 protein-coding 1313099 C18orf1 chromosome 18 open reading frame 1 9479497,15489334,14702039,12477932,9399696,9129712,7566098 753 NM_181482,NM_001003674,NM_001003675,NM_004338,NM_181483,AF009428,AF009429,AF009430,AF009431,AF009432,AF009433,AF009434,AF009435,AF009436,AF009437,AP001010,AP002439,AP002505,AP005131,CH471113,AA310737,AF009424,NM_181481,AF009425,AF009426,AF009427,AK023474,AK055028,AK291574,BC029958,BC030199,BC047093,BC066971,BM917439,H04910,N48737 NP_852146,NP_852147,NP_001003674,NP_001003675,NP_004329,NP_852148,EAX01511,EAX01512,EAX01513,EAX01514,AAC52023,AAC52024,AAC52025,AAC52026,BAF84263,AAH30199,AAH66971,O15165,Q5U646 Hs.149363 GDB:9784216 protein-coding 1321554 C18orf10 chromosome 18 open reading frame 10 737633 15489334,15334068,15221005,12477932,16189514 737633 25941 NM_015476,AC009854,AC090333,CH471088,AB073382,AK000543,AL050225,AY598336,BC015178,BC022199,BC087845,CR591861,CR593553,CR594989,CR595055,CR599773,CR606665,CR614442,CR617734,CR618149,CR618412,CR618841,CR619714,CR620916,CR622100,CR622238 NP_056291,EAX01383,EAX01384,EAX01385,EAX01386,BAD38633,CAB43322,AAT06747,AAH15178,AAH22199,AAH87845,Q68CL5 Hs.695999 DKFZp586M1523|HMFN0601|HsT3006|L17|PGs2 protein-coding 1349999 C18orf12 chromosome 18 open reading frame 12 84322 Q96KH6 AB027121 BAB47121,Q96KH6 Hs.334493 HEIL1|HsT2508 protein-coding 1354305 C18orf15 chromosome 18 open reading frame 15 14702039 147276 AK055900 1347753 C18orf16 chromosome 18 open reading frame 16 147429 NM_153010,AK055069 1345290 C18orf17 chromosome 18 open reading frame 17 737633 16177791,15489334,14702039,12477932 737633 125488 AC010754,NM_153211,AC090772,CH471088,AK091080,BC032684,BC121034,BC121035 NP_694943,EAX01169,EAX01170,EAX01171,BAC03578,AAH32684,AAI21035,AAI21036,Q8N584 Hs.128576 FLJ33761|HsT2697 protein-coding 1342701 C18orf18 chromosome 18 open reading frame 18 737633 15489334,12477932 737633 147525 XM_001722386,XM_001719942,XM_001720671,AP001496,CH471113,AK292743,BC010538 XP_001722438,XP_001719994,XP_001720723,EAX01649,BAF85432,AAH10538,Q96FQ7 Hs.657197 HsT959|MGC17515 protein-coding 1352066 C18orf19 chromosome 18 open reading frame 19 737633 16344560,14702039,12477932 737633 125228 NM_152352,NM_001098801,AP001010,AP001525,CH471113,AA602175,AK055618,BU189118,CB987819,DA560663,DA573992,DA895646,DA984075 NP_689565,NP_001092271,EAX01508,EAX01509,BAB70973,Q8TBL3,Q96ND0 Hs.13034 HsT2329|MGC24180 protein-coding 1343439 C18orf2 chromosome 18 open reading frame 2 14702039,11173868 56651 NM_031416,AP000829,AP005119,CH471113,AF295725,AF295726,AF295727,AF295728,AF295729,AF295730,AK057505 NP_113604,EAX01703,EAX01704,AAK13319,AAK13320,AAK13321,Q9BZP3 Hs.541165 GDB:11510823 miscrna 1350003 C18orf20 chromosome 18 open reading frame 20 737633 737633 221241 NM_152728,BC029565 1347622 C18orf21 chromosome 18 open reading frame 21 737633 16964243,15489334,14702039,12477932 737633 83608 NM_031446,AC091060,CH471088,AF277182,AF277189,AY631401,BC025950,BC108730,BC119765,BC119766,BX460890,CR608062,CR613371 NP_113634,EAX01362,EAX01363,EAX01364,AAK07541,AAK07547,AAT51696,AAH25950,AAI08731,AAI19766,AAI19767,Q32NC0,Q8TBS0,ABM83053,ABM86246 Hs.37883 HsT3108|MGC131953|PNAS-124|PNAS-131|XTP13 protein-coding 1323615 C18orf22 chromosome 18 open reading frame 22 737633 15489334,14702039,12477932 737633 79863 NM_024805,AC090360,CH471117,AF261073,AF439745,AK024825,BC014195,BC057772,CR593794,CR602922 NP_079081,EAW66642,EAW66643,EAW66644,AAM20740,AAL32051,BAB15022,AAH14195,AAH57772,Q8N0V3 Hs.593610 FLJ21172|HsT169 protein-coding 1354365 C18orf23 chromosome 18 open reading frame 23 14702039 147341 NM_152470,AK091537 1321886 C18orf24 chromosome 18 open reading frame 24 737633 17093495,16189514,15561729,15489334,15146197,12477932 737633 220134 NM_001039535,NM_145060,AC105227,CH471096,BC005972,BC015606,BC015706,BG493245,BM470268,BQ069178,BU659790,BX956145,CN403719 NP_001034624,NP_659497,EAW62971,EAW62972,EAW62973,AAH15706,Q96BD8 Hs.134726 MGC10200|Ska1 protein-coding 1318467 C18orf25 chromosome 18 open reading frame 25 737633 17081983,16344560,16189514,15722956,15489334,12477932 737633 147339 NM_001008239,AC021763,AC118647,CH471088,CS185648,AI374757,AK289738,AK292981,AL713661,AL832027,BC016149,BC084579,BG497739,BK005125,BM561576,BU192741,BU663975,BX640683,CR625809,DA818562,DB284444,NM_145055 NP_659492,NP_001008240,EAX01472,EAX01473,CAJ42829,BAF82427,BAF85670,CAD28470,CAD89920,AAH16149,AAH84579,DAA05329,CAE45812,Q96B23 Hs.706805 ARKL1|MGC12909|MGC87799 protein-coding 1344523 C18orf26 chromosome 18 open reading frame 26 14702039 284254 NM_173629,AC091135,CH471096,AK096425,CR621783 NP_775900,EAW63007,BAC04784,Q8N1N2 Hs.376146 FLJ39106 protein-coding 1352346 C18orf30 chromosome 18 open reading frame 30 14702039 284221 XM_001130754,AK095053,AK127627 XP_001130754,BAC87063,Q6ZS91,Q8N787 Hs.651849 HsT771 protein-coding 1626573 C18orf32 chromosome 18 open reading frame 32 12761501,12477932 497661 NM_001035005,AC100778,AB097012,AK027111,AK291882,BC022357,BC093004,CR590428,CR614700,CR622403,CR622566 NP_001030177,BAC77365,BAF84571,AAH22357,AAH93004 Hs.654638 FLJ23458 protein-coding 1626518 C18orf33 chromosome 18 open reading frame 33 14702039 100113406 XM_001714254,XM_001721257,XM_001721238,AC015819,AK096231 XP_001714306,XP_001721309,XP_001721290,BAC04734,Q8N8S9 Hs.638428 FLJ38912 protein-coding 1317773 C18orf34 chromosome 18 open reading frame 34 737633 17081983,15489334,14702039,12477932 737633 374864 NM_198995,NM_001105528,AC025888,AC090371,AC100845,AC104956,AC116607,CH471088,AK000027,AK126038,AK129955,BC062719,BC091517,BC130535 NP_945346,NP_001098998,EAX01301,BAC86407,BAC85257,AAH62719,AAH91517,AAI30536,Q5BJE1,Q6P5S0 Hs.115461 FLJ44050|MGC111498|MGC163407 protein-coding 1320959 C18orf37 chromosome 18 open reading frame 37 737633 16368877,16341674,16230350,15489334,14702039,12477932 737633 125476 NM_194281,NM_001098817,AC007998,CH471088,AK095502,BC039404,BC048989,BF475320,BM758571,BQ887287,BY800049,CR623740,EC520842 NP_919257,NP_001092287,EAX01357,EAX01358,BAC04560,AAH39404,AAH48989,Q6PI98 Hs.464903 FLJ38183|hIes6 protein-coding 1354418 C18orf41 chromosome 18 open reading frame 41 401894 XM_377496 1351617 C18orf45 chromosome 18 open reading frame 45 737633 16189514,12477932 737633 85019 NM_032933,AC011731,AC026634,CH471088,AK123623,AK126247,BC006280,BC054507,BC082984,BC114510,BC114561,CR610638 NP_116322,EAX01150,BAC85665,BAC86502,AAH06280,AAH54507,AAI14511,AAI14562,Q24JQ0,Q9BRG3 Hs.137562 FLJ44259|MGC11386|MGC138577 protein-coding 1603142 C18orf49 chromosome 18 open reading frame 49 12477932 400653 BC047606,AK000229 Hs.699275 FLJ20222 protein-coding 1353681 C18orf51 chromosome 18 open reading frame 51 12477932 125704 NM_001044369,AC009704,BC019628,CR618658 NP_001037834,AAH19628,Q0P6D2 Hs.371690,Hs.681621 protein-coding 1348374 C18orf54 chromosome 18 open reading frame 54 16189514,15489334,14702039,12477932 162681 NM_173529,AC087395,AC093462,CH471096,AK126503,BC036054,BC043651,BX640877 NP_775800,EAW63006,BAC86570,AAH36054,CAE45934,Q8IYD9 Hs.208701 MGC33382 protein-coding 1351951 C18orf55 chromosome 18 open reading frame 55 737633 15489334,12477932,11042152 737633 29090 NM_014177,AC084702,CH471117,AF161503,AK289923,BC000892,BG431414,BG820086,CR620926 NP_054896,EAW66540,EAW66541,EAW66542,EAW66543,AAF29118,BAF82612,AAH00892,Q9BVV7,ABM82061,ABM85240 Hs.532835 HSPC154 protein-coding 1345093 C18orf56 chromosome 18 open reading frame 56 16189514,12477932 494514 NM_001012716,AP001178,CH471113,BC028301 NP_001012734,EAX01723,AAH28301,Q8TAI1 Hs.274959 protein-coding 1354422 C18orf57 chromosome 18 open reading frame 57 54523 AL137361 Hs.98173 DKFZP434C0826 protein-coding 1345723 C18orf58 chromosome 18 open reading frame 58 14702039 284222 NM_173817,AP005117,AP005120,AK092226 NP_776178,BAC03832,Q8NAR6 Hs.436902 FLJ34907 protein-coding 1349119 C18orf61 chromosome 18 open reading frame 61 497259 1604712 C18orf62 chromosome 18 open reading frame 62 14702039,12477932 284274 NM_001037331,AC116003,CH471117,AK093452,BC037871,BC105945,BC107486 NP_001032408,EAW66572,AAI07487,Q3B7S5 Hs.666744 MGC126049 protein-coding 1323450 C18orf8 chromosome 18 open reading frame 8 737633 14702039,12477932,17081983,15489334 737633 29919 NM_013326,AC010853,AC026634,CH471088,AF143536,AK027106,AK057192,BC002950,BC008305,CN481504,CR592203,CR626373 NP_037458,EAX01155,EAX01156,EAX01157,AAD33909,BAB71377,AAH02950,AAH08305,Q96DM3 Hs.529006 FLJ23453|HsT2591|MIC1 protein-coding 1345552 C19orf10 chromosome 19 open reading frame 10 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. 16713569,15489334,15057824,14641539,12538725,12477932,12077275,11714798 56005 NM_019107,AC005339,AC005594,CH471139,AF282264,AK098829,AL365373,AL365374,BC003639,BC010129,BC014655,BG484758,CR598941,CR606038,CR606625,CR612786,CR614526,CR616467 NP_061980,AAC27824,AAC33800,EAW69202,EAW69203,CAB96947,CAB96948,AAH03639,AAH10129,AAH14655,Q969H8 Hs.465645 EUROIMAGE1875335|IL25|IL27|IL27w|R33729_1|SF20 protein-coding 1319491 C19orf12 chromosome 19 open reading frame 12 737633 16344560,14702039,12477932 737633 83636 NM_031448,NM_001031726,AC010513,AC010644,AK057185,AL162066,BC004957,BC009946,BC017211,BC063518,BI753584,CR604380,CR605860,CR615514,CR616725,CR618605,DA064969,DA708831,DB541407 NP_113636,NP_001026896,CAB82403,AAH04957,AAH09946,AAH17211,AAH63518,Q9NSK7 Hs.529094 DKFZP762D096|MGC10922 protein-coding 1322128 C19orf15 chromosome 19 open reading frame 15 737633 16344560,14702039,12477932 737633 57828 NM_021185,AC005625,AC005789,AC026806,CH471126,AK096218,AK128039,AK128220,AL133023,AW072458,BC033852,BC060889,BC094785,BC109035,BG719195,DB096694 NP_067008,AAC34570,AAC34571,EAW56777,EAW56778,EAW56779,EAW56780,EAW56781,EAW56782,EAW56783,BAC87243,BAC87333,CAH56391,AAI09036,O75294,O75295,Q32MQ2,Q6ZRH7,Q6ZRR6 Hs.324335 DKFZP434A1022|FLJ38899|FLJ46353|MGC125664 protein-coding 1348410 C19orf16 chromosome 19 open reading frame 16 12477932 284418 Q8N5Q1,Q8ND99 XM_371195,XM_938028,AC020922,AK127979,AK128284,AL834316,BC031875 XP_371195,XP_943121,CAD38986,AAH31875,Q8N5Q1,Q8ND99 Hs.528319 DKFZp434G1729|MGC35045 protein-coding 1342903 C19orf18 chromosome 19 open reading frame 18 737633 15489334,12477932 737633 147685 NM_152474,AC010326,CH471135,BC033933 NP_689687,EAW72545,AAH33933,Q8NEA5 Hs.134209 MGC41906 protein-coding 1321058 C19orf19 chromosome 19 open reading frame 19 15489334,14702039,12477932 284451 NM_182577,AC005775,AC006124,CH471242,AK097378,BC104468,BC104469 NP_872383,EAW61196,BAC05028,AAI04469,AAI04470,Q3SX64 Hs.104777 FLJ40059|MGC129962|MGC129963 protein-coding 1321217 C19orf2 chromosome 19 open reading frame 2 The protein encoded by this gene binds to RNA polymerase II subunit 5 (RPB5) and negatively modulates transcription through its binding to RPB5. The encoded protein seems to have inhibitory effects on various types of activated transcription, but it requires the RPB5-binding region. This protein acts as a corepressor. It is suggested that it may require signaling processes for its function or that it negatively modulates genes in the chromatin structure. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 9819440,9878255,17936702,17081983,15367675,14702039,14615539,12737519,12477932,11827465,14743216 8725 NM_134447,NM_003796,AC008507,AF091095,AK001437,AK226173,AK292170,BC014933,BC026184,BC067259,CR591124,CR606677 NP_003787,NP_604431,AAD08679,BAF84859,AAH14933,AAH26184,AAH67259,O94763,Q6NX55,Q8TC23,Q96C15 Hs.466391 GDB:9956750 FLJ10575|NNX3|RMP|URI protein-coding 1323455 C19orf20 chromosome 19 open reading frame 20 16341674,15489334,14702039,12972506,12477932,11441184 91978 NM_033513,AC005775,AC011531,CH471242,AK126170,BC009520,BM846833 NP_277048,EAW61192,EAW61193,BAC86469,AAH09520,Q6ZTW0,AAI48688,AAI52802 Hs.369613 GTRGEO22|PGs1 protein-coding 1317766 C19orf21 chromosome 19 open reading frame 21 737633 17081983,16565220,16083285,15489334,12477932 737633 126353 NM_173481,AC004030,CH471242,BC042125,BC052236,BX648389,BX648815 NP_775752,EAW61160,AAH42125,AAH52236,Q8IVT2 Hs.439180 DKFZp686H18209 protein-coding 1316037 C19orf22 chromosome 19 open reading frame 22 737633 15489334,12477932 737633 91300 AC005379,AC112706,CH471139,AK000263,AK024622,BC012775,CR592767,CR596729,NM_138774,CR597374,CR599301,CR606082,CR608111,CR614470,CR614472,CR615271,CR616128,CR616662,CR617180,CR617940,CR619216,CR622307,CR624510 EAW69584,AAH12775,NP_620129,Q96D70 Hs.557655 MGC16353 protein-coding 1352831 C19orf23 chromosome 19 open reading frame 23 737633 15489334,12477932 737633 148046 NM_152480,AC004221,AC004258,CH471139,BC026041 NP_689693,EAW69526,AAH26041,Q8TBR5 Hs.438829 MGC39338 protein-coding 1346714 C19orf24 chromosome 19 open reading frame 24 737633 16847563,15489334,14702039,12477932,9373149,8125298 737633 55009 AK225502,NM_017914,AC004258,CH471139,AK000647,BC000890,BC012080,CR610772 NP_060384,EAW69518,EAW69519,BAA91305,AAH00890,Q9BVV8 Hs.591383 FLJ20640 protein-coding 1352315 C19orf25 chromosome 19 open reading frame 25 16189514,16303743,15489334,15342556,14702039,12477932,9110174,8619474 148223 NM_152482,AC027307,CH471139,CQ783391,AK075267,AK093985,AL122089,AY007120,BC018441,BP210473,CR596309,CR603275,CR616237 NP_689695,EAW69495,CAF86596,BAC04262,CAB59260,AAH18441,Q9UFG5 Hs.532840 FLJ36666 protein-coding 1316225 C19orf26 chromosome 19 open reading frame 26 737633 17081983,15489334,15057824,12477932 737633 255057 NM_152769,NG_007460,AC004221,CH471139,BC028156 NP_689982,AAC04305,EAW69535,EAW69536,EAW69537,AAH28156,Q8N350 Hs.346575 DOS|MGC40084 protein-coding 1317080 C19orf28 chromosome 19 open reading frame 28 737633 15489334,12477932 737633 126321 NM_001042680,NM_021731,NM_174983,AC005786,AC005787,CH471139,AF218008,AL556500,BC036706,BC068439,BG763518,CR600462,CR601769,CR607935,CR623233,EU375738 NP_001036145,NP_068377,NP_778148,EAW69309,EAW69310,EAW69311,AAG17250,AAH36706,AAH68439,ABY76320,Q6NUT3,Q9HBP8,ABM83210,ABM86410 Hs.656901 MGC20700|PP3501 protein-coding 1344995 C19orf29 chromosome 19 open reading frame 29 14667819,15489334,15302935,15197164,15146197,15057824,12477932,11991638,10508479,9110174,8619474,17353931 58509 NM_001080543,NM_021231,AC005175,AC005542,AF052087,AF155102,AW027691,AY917150,BC004262,BC019848,BF196424,CF272634,CN305928,CO248922 NP_001074012,NP_067054,AAC24305,AAC32903,AAD42868,AAX84551,AAH04262,AAH19848,Q8WUQ7,AAI56485 Hs.128425,Hs.665775 NY-REN-24|cactin protein-coding 1347642 C19orf29OS chromosome 19 open reading frame 29 opposite strand 14702039 404665 XM_001726162,XM_001726191,XM_001722769,AC005175,AK097999 XP_001726214,XP_001726243,XP_001722821,BAC05213,Q8N1I8 Hs.707783 protein-coding 1347493 C19orf30 chromosome 19 open reading frame 30 15489334,12477932,11854097 284424 Q5BKX9,Q8N6C7 NM_174947,AC006537,CH471139,AB058892,AB058893,BC090884,BC117294,BC117296 NP_777607,EAW69196,EAW69197,Q8N6C7,EAW69198,BAB40233,BAB40234,AAH90884,AAI17295,AAI17297,Q5BKX9 Hs.326728 PGSF1|PGSF1a|PGSF1b protein-coding 1348009 C19orf31 chromosome 19 open reading frame 31 14702039 404664 Q8N1I2 NM_001014373,AC027319,AK098038 NP_001014395,BAC05219,Q8N1I2 Hs.620488 FLJ40719 protein-coding 1354281 C19orf33 chromosome 19 open reading frame 33 11606055,17309599,17081983,15489334,14981917,12477932,11080599 64073 NM_033520,AC011479,AF325216,CH471126,AB038317,AB038318,AF213678,BC008888,BC014264,BC060319 NP_277055,AAK01421,EAW56769,EAW56770,BAB18465,BAB18466,AAG43574,AAH14264,AAH60319,Q0P6G2,Q9GZP8 Hs.707063 H2RSP|IMUP|IMUP-1|IMUP-2|MGC39135|MGC75180 protein-coding 1345479 C19orf34 chromosome 19 open reading frame 34 737633 16344560,15489334,15342556,12477932,10737800 737633 255193 NM_152771,AC012615,CH471139,BC029585,BP368884,CV378841,DB337348 NP_689984,EAW69432,AAH29585,Q8NCQ2 Hs.374717 MGC39696 protein-coding 1352021 C19orf35 chromosome 19 open reading frame 35 14702039 374872 NM_198532,AC004152,CH471139,AK127680 NP_940934,EAW69392,BAC87082,Q6ZS72 Hs.511803 FLJ45778 protein-coding 1349340 C19orf36 chromosome 19 open reading frame 36 737633 15489334,12975309,12477932 737633 113177 NM_001039846,NM_001031735,AC005328,AC005545,CH471139,AW182303,AY358444,AY753639,BC010443,BC014609,BC040964,BI827974,BX378854,DQ196309,DQ196310,DQ424900 NP_001034935,AAC27671,NP_001026905,AAC34213,EAW69419,EAW69420,EAW69421,AAQ88809,AAX09280,AAH10443,AAH14609,ABA28617,ABA28618,ABD83665,O75250,Q1ZYL8,Q7LE06 Hs.424049 IMAGE:4215339 protein-coding 1601725 C19orf39 chromosome 19 open reading frame 39 14702039,12477932 126074 NM_175871,AC024575,CH471106,AK092438,BC068071,BC119677 NP_787067,EAW84204,BAC03891,AAH68071,AAI19678,Q6NVH7 Hs.631619 FLJ35119|MGC149562|MGC78620 protein-coding 1605898 C19orf40 chromosome 19 open reading frame 40 FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM] 18206976,17289582,16344560,15489334,12477932 91442 NM_152266,AC011449,AK128668,BC003535,BC010170,BC020247,DA006539 NP_689479,AAH03535,AAH10170,AAH20247,Q9BTP7 Hs.579899 FAAP24|FLJ46828|MGC32020 protein-coding 1606978 C19orf41 chromosome 19 open reading frame 41 12975309,12477932 126123 AC020906,AF479645,CH471135,AK131024,AY358196,BC029535,NM_152358 AAQ05826,AAQ05827,EAW71837,BAC85478,AAQ88563,AAH29535,Q6UXV1,ABM81893,ABM85066,NP_689571 Hs.414175 MGC33947|PLAL6978|PRO21961|SCRL protein-coding 1601966 C19orf42 chromosome 19 open reading frame 42 12477932 79086 NM_024104,AC024075,CH471106,AK025602,AL702263,BC001680,BC001948,BC069279,BX648276,CR593639,CR597307,CR599944,CR600324,CR606257,CR615358,CR616041,CR616263,CR625214 NP_077009,EAW84555,EAW84556,EAW84557,EAW84558,AAH01680,AAH01948,Q9BQ49 Hs.356467 MGC2747 protein-coding 1604305 C19orf43 chromosome 19 open reading frame 43 16189514,15489334,14702039,12477932 79002 NM_024038,AC018761,CH471106,AF061732,AK027588,BC000216,BC004533,BC015347,BC040846,CR591036,CR598924,CR605443,CR606353,CR610021,CR621203,CR621512,CR624371,CR626693 NP_076943,EAW84302,AAG43143,AAH00216,AAH04533,AAH15347,Q9BQ61,Q9H3J7,ABM82375,ABM85554 Hs.515155 MGC2803 protein-coding 1602089 C19orf44 chromosome 19 open reading frame 44 16344560,12477932,9373149 84167 NM_032207,AC008764,CH471106,AK025395,AK026145,AK225118,AK225678,BC027869,DA491717 NP_115583,EAW84547,EAW84548,BAB15125,AAH27869,Q9H6X5 Hs.708147 FLJ21742|FLJ22492 protein-coding 1602810 C19orf45 chromosome 19 open reading frame 45 14702039,12477932 374877 NM_198534,AC008878,AK093103,BC029824,BC034779 NP_940936,BAC04057,AAH29824,AAH34779,Q8NA69 Hs.631862 FLJ35784 protein-coding 1602427 C19orf46 chromosome 19 open reading frame 46 14702039,12477932 163183 NM_001039876,AC002116,AF038458,AK093764,BC038360,BC052573,CR595098 NP_001034965,BAC04222,AAH52573,Q8N205 Hs.436743 FLJ36445 protein-coding 1605879 C19orf47 chromosome 19 open reading frame 47 15489336,14702039,12477932,11230166,11076863,16381901 126526 CR591102,CR936760,NM_178830,AC118344,CH471126,AK094207,AL834131,BC023623,BC027935 Q0JSU6,Q8N9M1,CAL37407,CAL37488,CAL38418,CAL38618,AAH27935,NP_849152,EAW56945,EAW56946,EAW56947,EAW56948,EAW56949,BAC04311,CAD38848,AAH23623 Hs.631557 DKFZp686P05129|FLJ36888 protein-coding 1603189 C19orf48 chromosome 19 open reading frame 48 15489334,12477932,12452007,8889548 84798 NM_199249,NM_199250,AC010325,CH471135,AY491972,BC006151,BC037227,BC051842,BM802982,BX508552,CF141966,CF146381,CR590605,CR591122,CR601120,CR604560,CR610794,CR611148,CR611743,CR614468,CR615248,CR615527,CR616224,CR625194 NP_954857,NP_954858,EAW71905,EAW71906,EAW71907,EAW71908,EAW71909,AAR36899,AAH06151,AAH37227,AAH51842,Q6RUI8 Hs.256301 MGC13170 protein-coding 1605904 C19orf49 chromosome 19 open reading frame 49 12477932 90198 Q86XP5 AC011497,AF497566,AK026018,BC093649,BC111942,BF941059,CB122799,NM_178121 AAO85531,AAH93649,AAI11943,Q86XP5,NP_835222 Hs.558582 FLJ22365|MGC138147|SBP1 protein-coding 1601969 C19orf50 chromosome 19 open reading frame 50 16189514,14702039,12477932 79036 NM_024069,AC005253,CH471106,AF173381,AK091145,AK098346,BC006479,BC001080,CR622494 NP_076974,AAC25583,EAW84712,EAW84713,EAW84714,AAQ13622,AAH01080,AAH06479,Q7Z4E2,Q9BQD3 Hs.369785 FLJ25480|MGC2749|MST096|MSTP096 protein-coding 1602406 C19orf51 chromosome 19 open reading frame 51 14702039,12477932 352909 NM_178837,NG_007866,AC010327,CH471135,AK093458,AK093473,AK097388,BC016843,BC063449 NP_849159,EAW72343,BAC04172,BAC04177,BAC05029,AAH16843,AAH63449,Q8N9W5 Hs.710369 FLJ36139|FLJ40069 protein-coding 1602195 C19orf52 chromosome 19 open reading frame 52 15489334,12477932 90580 NM_138358,AC011442,CH471106,BC005075,BC007244,BC011833,CR602315,CR607504,CR618878 NP_612367,EAW84160,AAH05075,AAH07244,AAH11833,Q9BSF4 Hs.662044 protein-coding 1606305 C19orf53 chromosome 19 open reading frame 53 16344560,15635413,15489334,12477932,11042152,10540346 28974 NM_014047,AC008686,CH471106,AF078852,AF086483,AI689503,BC015465,DA768829 NP_054766,EAW84372,AAD44484,AAH15465,Q9UNZ5,ABM82495,ABM85687 Hs.231616 HSPC023 protein-coding 1604490 C19orf54 chromosome 19 open reading frame 54 16344560,15146197,12477932 284325 NM_198476,AC020945,CH471126,AI250667,AK123126,AK310021,BC020262,BC090894,BC131602,BI521309,CN281611,DA073426 NP_940878,EAW56994,BAC85538,AAH90894,Q5BKX5,Q6ZWG5 Hs.585105 FLJ17063|FLJ41131|MGC103014 protein-coding 1603570 C19orf55 chromosome 19 open reading frame 55 16344560,14702039,12477932 148137 NM_001039887,AC002398,AK055219,AK124144,AL833894,BC017947,BC110893,DB086668 NP_001034976,BAB70878,CAD38750,AAH17947,AAI10894,Q2NL68 Hs.527982 DKFZp434C2231|FLJ30657|MGC131952 protein-coding 1605383 C19orf56 chromosome 19 open reading frame 56 15489334,14702039,12477932,10810093 51398 NM_016145,AC010422,CH471106,CQ834262,AF059620,AF078861,AF151898,AK091030,BC001192,BC042919,BC061912 NP_057229,EAW84285,EAW84286,CAH05346,AAG43119,AAD44493,AAD34135,AAH01192,AAH42919,AAH61912,Q9Y284 Hs.108969 PTD008 protein-coding 1603955 C19orf57 chromosome 19 open reading frame 57 16189514,8228263,14702039,12477932 79173 NM_024323,AC020916,CH471106,AK097431,BC002891,BC012945,BC119718,BC119719,CR601980,L17327 NP_077299,EAW84376,EAW84377,EAW84378,EAW84379,BAC05049,AAH02891,AAH12945,AAI19720,AAB02340,Q0IJ78,Q0VDD7 Hs.143288 MGC11271|MGC149720 protein-coding 1604975 C19orf59 chromosome 19 open reading frame 59 This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. 15953541,15489334,12477932 199675 NM_174918,AC008763,CH471139,AF461155,AF461156,BC035847,BC104796,BC104798,CA309750,CR620460 NP_777578,EAW69013,EAW69014,AAO15597,AAO15598,AAI04797,AAI04799,Q8IX19 Hs.432413 MCEMP1|MGC132456 protein-coding 1322435 C19orf6 chromosome 19 open reading frame 6 16084606,15489334,15057824,14702039,12638133,12477932 91304 NM_033420,NM_001033026,AC004528,CH471139,AK090400,AK095756,AY140906,BC008957,BQ895919,CR592871,CR608116,DQ005958 NP_219488,NP_001028198,AAC12681,EAW69571,EAW69572,EAW69573,EAW69574,EAW69575,BAC03381,AAN25597,AAH08957,AAY27747,Q4ZIN3,Q8IWT9,ABM84150,ABM87553 Hs.515003 ASBABP1|MEMBRALIN|MGC4022|R32184_3 protein-coding 1605988 C19orf60 chromosome 19 open reading frame 60 16344560,14702039,12477932,16189514 55049 NM_001100419,AC003112,CH471106,AK000857,AK054670,AK091925,AK094710,BC012078,BI836487,CR616719,CR625418,DB254892,NM_001100418 NP_001093888,NP_001093889,EAW84719,EAW84720,EAW84721,EAW84722,EAW84723,BAA91400,BAC03773,AAH12078,Q96EN9 Hs.655317 FLJ20850|FLJ30108|FLJ34606|FLJ37391 protein-coding 1606789 C19orf61 chromosome 19 open reading frame 61 11256614,16344560,14702039,12477932,11230166,8889548 56006 NM_019108,AC004780,CH471126,AK022948,AL136606,BC008869,BM981890,CR606035,DA356912 NP_061981,AAC17932,EAW57223,EAW57224,EAW57225,EAW57226,EAW57227,EAW57228,BAB14323,CAB66541,AAH08869,Q9H0W8 Hs.466875 DKFZp564H1322|F17127_1|FLJ12886 protein-coding 1602893 C19orf62 chromosome 19 open reading frame 62 17353931,16381901,16189514,15489336,12477932,11230166,11076863,11042152,9373149,8125298 29086 NM_001033549,NM_014173,AC010463,AC104522,CH471106,AF161491,AJ572521,AK000578,AK025970,AK225047,AL136692,BC000788,BC006244,BC091491,CR533526,CR592021,CR597425,CR601610,CR605419,CR609943,CR621679,CR625481,CR625721 NP_001028721,NP_054892,EAW84584,EAW84585,AAF29106,BAA91268,CAB66627,AAH00788,AAH06244,AAH91491,CAG38557,Q9NWV8,CAL38513,CAL38600 Hs.190722 FLJ20571|HSPC142 hspc142 protein protein-coding 1602050 C19orf63 chromosome 19 open reading frame 63 15146197,12975309,12477932 284361 NM_206538,AC020909,CH471135,AL512761,AY194293,AY358710,AY761095,AY761097,BC032948,BC035001,BC062607,BI914408,BX366174,CN423491,CR590399,CR593504,CR604660,CR605185,NM_175063,CR607660,CR618362,CR624296 NP_778233,NP_996261,EAW71871,EAW71872,EAW71873,CAH10658,AAO23975,AAQ89073,AAV30543,AAV30545,AAH32948,AAH35001,Q5UCC4 Hs.448941,Hs.515550 HSM1|HSS1|INM02|MGC33203 protein-coding 1626536 C19orf64 chromosome 19 open reading frame 64 14702039 100113377 AK098244 BAC05269,Q8N7K9 Hs.266873 protein-coding 1344891 C19orf8 chromosome 19 open reading frame 8 140783 GDB:11505364 1353943 C19orf9 chromosome 19 open reading frame 9 199775 BC021822 1607075 C1D nuclear DNA-binding protein The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. 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. 9469821,17599775,17412707,12477932,12379155,11801738,11311939,10362552,9852280,9679063,9405624,16189514 10438 NM_006333,NM_173177,AC079112,AJ297543,CH471053,AK290451,BC005235,BC009584,BC009589,BC016284,X95592 NP_006324,NP_775269,AAX88887,EAW99884,EAW99885,EAW99886,BAF83140,AAH05235,AAH09584,AAH09589,AAH16284,CAA64845,Q13901,ABZ92396 Hs.602900 GDB:9957008 MGC12261|MGC14659|SUNCOR protein-coding 732029 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 The common core 1 O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1) (Ju et al., 2002 [PubMed 11677243]).[supplied by OMIM] 632427,1580863 11677243,17228361,18061573,16344560,16251947,12690205,12477932,10580128 632427 56913 NM_020156,AC005532,CH236948,CH471073,AF155582,AJ132443,AJ243256,AJ278960,BC003174,DA977378 NP_064541,AAQ96887,EAL24308,EAW93588,EAW93589,EAW93590,AAF81981,CAC45046,CAC80435,CAC82373,AAH03174,Q9NS00 Hs.592180 C1GALT|T-synthase protein-coding 1344219 C1GALT1C1 C1GALT1-specific chaperone 1 628501,1580863 18339842,18321367,18061573,17228361,16251947,12975309,12477932,12464682,12361956,11042152 628501 29071 NM_152692,AC011890,CH471107,AA578739,AB084170,AF088029,AF161552,AF177284,AJ238398,AK290111,BG779539,CR593612,CR618283,CR623043,AY159319,AY358642,BC011930,BC012502,BC050441,NM_001011551 NP_001011551,NP_689905,EAX11873,BAC41493,AAF29039,AAQ13670,CAC80277,BAF82800,AAH50441,Q96EU7,AAN78129,AAQ89005,AAH11930 Hs.699243 C1GALT2|C1Gal-T2|COSMC|HSPC067|MGC19947|c38h2-l1 protein-coding 1353224 C1HR C1AGOH temperature sensitivity complementing 709 GDB:119040 1315493 C1QA complement component 1, q subcomponent, A chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. 1600549,1580863 9461517,814163,1249422,18174230,18054386,16710414,16566583,16465510,16335952,16046396,15878871,15489334,15231748,15034050,12960167,12847249,12645945,12630757,12477932,11714829,10878362,10528211,9777412,9476117,9225968,9184145,9013976,8840296,8778019,8417122,8195709,8172568,7939135,6981411,6981115,2372546,1706597,1537612,1431141,486087,7240,7739575,9780209,9444979,9223728,9052718,1744579,9443108,1875953,12396016,7642209,7507842,11318594,10504397,8252810,8245486 1600549 712 BC071986,BG548439,BX369252,CR591547,CR610701,CR619283,CR623532,CR626789,NM_015991,NG_007282,NG_007565,AL158086,AY789471,CH471134,AF135157,AF260332,BC030153 AAH30153,AAH71986,P02745,Q9H2L7,NP_057075,CAI22892,CAI22893,AAV40828,EAW95014,EAW95015,AAD32626,AAG44663 Hs.632379 GDB:119042 protein-coding 1346671 C1QB complement component 1, q subcomponent, B chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the B-chain polypeptide of human complement subcomponent C1q 1599518,1599508,1599509,1599510,1580863 1706597,814163,1249422,18174230,17513176,16710414,16566583,15709773,15489334,15034050,12960167,12847249,12645945,12477932,10882776,10471215,9777412,9444979,9184145,7939135,6981411,6208566,3180845,3000358,2894352,1537612,1370572,708376,486087,7739575,9780209,1744579,9443108,1875953,12396016,7642209,7507842,11318594,10504397,8252810,8245486,16189514 1599518,1599508,1599509,1599510 713 NM_000491,NG_007283,AL158086,CH471134,K03430,L80036,BC008983,BQ711602,CR595684,CR603615,M36278,X03084 NP_000482,CAI22895,CAI22896,EAW95019,EAW95020,EAW95021,AAQ67338,AAH08983,AAC41692,CAA26880,P02746,Q5T960,Q6LDZ7,ABM82457,ABM85646 Hs.8986 GDB:119043 complement component 1, q subcomponent, beta polypeptide protein-coding 1342690 C1QBP complement component 1, q subcomponent binding protein The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. 1580863 14667819,15231747,8195709,17907801,17892212,16893067,16871385,16713569,16641292,16455055,16177118,16164755,16140380,16039650,15489334,15467913,15324660,15243141,15163734,15031724,14583623,12833064,12574814,12538033,12477932,12443542,12220632,11870091,11866440,11773076,11549288,11350968,11278463,10831594,10823864,10747014,10097078,10022843,9721222,9284938,8626563,8567680,8262387,8189522,7778269,2372546,1830244,16537587,14743216 708 NM_001212,AC004148,AF338439,CH471108,DQ372108,AF275902,AJ297362,AK291516,BC000435,BC013731,BT019898,BT019899,CR590289,CR591839,CR591881,CR592467,CR604243,CR607361,CR608216,CR609525,CR610424,CR613532,CR614702,CR617810,CR618057,CR620668,L04636,X75913 NP_001203,AAK26580,EAW90335,EAW90336,EAW90337,ABC79624,AAF78763,CAB95947,BAF84205,AAH00435,AAH13731,AAV38701,AAV38702,AAA16315,CAA53512,Q07021,Q9NQ45,ABM82257,ABM84292,ABM85440,ABM87682 Hs.555866 GDB:373424 GC1QBP|HABP1|SF2p32|gC1Q-R|gC1qR|p32 protein-coding 1347949 C1QBPP complement component 1, q subcomponent binding protein, pseudogene 10830953 54098 NG_000929,AP000568 GDB:10796281 pseudo 1315664 C1QC complement component 1, q subcomponent, C chain This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. 1580863 814163,1249422,9777412,18174230,16710414,16566583,16381901,16344560,15489336,15489334,15034050,14702039,12960167,12847249,12645945,12477932,16189514,8245486,11076863,8630118,7939135,3180845,1706597,486087,7739575,1744579,9443108,1875953,12396016,7642209,7590886,7507842,11318594,10504397,8252810 714 NM_001114101,NG_007565,AL158086,CH471134,AF087892,AK057792,AK130613,AK226152,BC009016,BG060138,CB995661,CR597625,CR600681,CR604785,NM_172369,CR609138,CR613096,CR615645,CR617126,CR617498,CR625581,CR626158,DA849505 NP_758957,NP_001107573,CAI22894,EAW95016,EAW95017,EAW95018,AAP97191,BAB71575,AAH09016,P02747,Q0JSW8,CAL37759,CAL38110,CAL38396 Hs.467753 GDB:128132 C1Q-C|C1QG|FLJ27103 complement component 1, q subcomponent, gamma polypeptide protein-coding 1314427 C1QL1 complement component 1, q subcomponent-like 1 1580863 9878755,15489334,12477932 10882 NM_006688,AC015936,AF410771,CH471178,AF095154,BC008798 NP_006679,AAK95248,EAW51563,AAC64186,AAH08798,O75973 Hs.134012 C1QRF|CRF protein-coding 1350440 C1QL2 complement component 1, q subcomponent-like 2 1580863 12477932 165257 NM_182528,AC016673,CH471103,CS057609,AF525315,BC043189,BC067896,BC142965,CR591276,CR622997 NP_872334,EAW95208,CAI77590,AAP80787,Q7Z5L3 Hs.433493 protein-coding 1322092 C1QL3 complement component 1, q subcomponent-like 3 15164054,14702039,10862616 389941 NM_001010908,AL353576,AL360230,CH471072,CS019532,AK094686 NP_001010908,CAH72610,EAW86225,CAI58841,Q5VWW1 Hs.444321,Hs.676792 C1ql|K100 protein-coding 1604955 C1QL4 complement component 1, q subcomponent-like 4 15489334,12477932 338761 NM_001008223,AC125611,AX925776,CH471111,AF466366,BC110812,CR600274 NP_001008224,CAF02403,EAW58065,AAO33387,AAI10813,Q86Z23 Hs.380386 MGC131708 protein-coding 1350694 C1QTNF1 C1q and tumor necrosis factor related protein 1 1580863 16806199,16303743,15489334,14702039,12975309,12477932,12409230,16189514 114897 NM_030968,NM_198594,NM_198593,AC073624,CH471099,CQ764845,CQ783254,AF232905,AF329840,AJ272138,AK055541,AK075175,AK172767,AK292034,AY358424,BC021553,CD250839,CR612304 NP_112230,NP_940996,NP_940995,EAW89557,EAW89558,CAF32794,CAF86457,AAG44303,AAK17964,CAC20425,BAB70947,BAC11451,BAD18750,BAF84723,AAQ88790,AAH21553,Q6ZMH6,Q9BXJ1,ABM83468,ABM86679 Hs.201398 GDB:11505702 CTRP1|FLJ90694|GIP|ZSIG37 protein-coding 1348725 C1QTNF2 C1q and tumor necrosis factor related protein 2 1580863 15489334,12975309,12477932 114898 NM_031908,AC091842,AC112191,CH471062,AF329836,AY358839,BC011699,BC054506 NP_114114,EAW61561,AAK17960,AAQ89198,AAH11699,AAH54506,Q9BXJ5,ABM84187,ABM87589 Hs.110062 GDB:11505704 CTRP2|zacrp2 protein-coding 1312783 C1QTNF3 C1q and tumor necrosis factor related protein 3 17534697,17311679,16303743,14702039,14654242,12975309,12477932,11071891 114899 NM_030945,NM_181435,AC139783,CH471118,CS023766,CS051375,AF173888,AF326976,AF329837,AK075533,AK094895,AK127389,AY358388,BC016021,BC112925,BC120990,BX483406,BX640995,EU399231,EU399232 NP_852100,NP_112207,EAX10819,EAX10820,EAX10821,CAI59108,CAI72182,AAQ13635,AAK70344,AAK17961,BAC11676,BAC04453,AAQ88754,AAI12926,AAI20991,CAE45998,ABY86416,ABY86417,Q0VAN4,Q542Y2,Q59G48,Q8N1T4,Q9BXJ4 Hs.171929 GDB:11505706 CORS26|CTRP3|Corcs|Cors|FLJ37576 protein-coding 1322231 C1QTNF4 C1q and tumor necrosis factor related protein 4 16094384,15489334,12477932 114900 NM_031909,AC104942,CH471064,CS208003,AF329838,BC035628,BI756346,CR614754 NP_114115,EAW67893,CAJ44927,AAK17962,AAH35628,Q9BXJ3 Hs.662633 GDB:11505708 CTRP4|ZACRP4 protein-coding 1318784 C1QTNF5 C1q and tumor necrosis factor related protein 5 The CTRP5 protein is a member of the C1q (see MIM 120550)/tumor necrosis factor (MIM 191160) superfamily, which shows diverse functions including cell adhesion and basement membrane components (Shapiro and Scherer, 1998 [PubMed 9512423]). C1QTNF5 is mutant in late-onset retinal degeneration (LORD; MIM 605670).[supplied by OMIM] 1580863 17766366,17249553,16600989,16396496,16376663,16123441,15489334,15340161,12975309,12944416,12477932,9512423 114902 AL110261,AY358383,BC029485,NM_015645,AP003396,CH471065,EF444994,AF086482,AF329841,AJ862823 CAB53702,AAQ88749,AAH29485,Q9BXJ0,CAH93522,NP_056460,EAW67481,EAW67482,ACA06014,AAK17965 Hs.632102,Hs.679518 GDB:11505710 CTRP5|DKFZp586B0621|LORD protein-coding 1316024 C1QTNF6 C1q and tumor necrosis factor related protein 6 15489334,15461802,15340161,12975309,12477932,8889548 114904 NM_031910,NM_182486,CH471095,Z82188,AF329842,AK128125,AK226149,AY358374,BC020551,BM678522,BM722009,BQ674594,BU147265,BU535692,BU542015,BU859813,CB961508,CR456451,CR606760,CR607090,CR608415,CR622807 NP_114116,NP_872292,EAW60145,EAW60146,CAI19597,AAK17966,BAC87283,AAQ88740,AAH20551,CAG30337,Q5H9G8,Q6ICB7,Q6ZRM7,Q9BXI9,CAK54433,CAK54732,ABM82401,ABM85589 Hs.22011 GDB:11505712 CTRP6|ZACRP6 protein-coding 1315898 C1QTNF7 C1q and tumor necrosis factor related protein 7 1580863 15489334,12477932 114905 NM_031911,AC007016,AC099550,CH471069,AF329839,BC022187,BC024015,BX647781 NP_114117,EAW92731,AAK17963,AAH22187,AAH24015,Q9BXJ2 Hs.153714 GDB:11505714 CTRP7|ZACRP7 protein-coding 1345449 C1QTNF8 C1q and tumor necrosis factor related protein 8 12975309 390664 NM_207419,AC009041,AL031713,CH471112,AY358832 NP_997302,EAW85686,AAQ89191,P60827,AAI56256,AAI57037 Hs.527853 UNQ5829 protein-coding 1602167 C1QTNF9 C1q and tumor necrosis factor related protein 9 12975309,12477932 338872 NM_178540,AL359736,CH471075,AY358145,BC040438,BI767787 NP_848635,CAH72292,CAH72293,EAX08334,EAX08335,AAQ88512,AAH40438,Q5VX65 Hs.362854 MGC48915 protein-coding 1319235 C1R complement component 1, r subcomponent 1600551,1580863 1249422,2834284,814163,14718574,16335952,15489334,14702039,12914573,12555245,12499050,12477932,12429092,11823416,11445589,11086101,9477945,9373149,9174342,8881771,8635594,8227070,8162045,8125298,6303394,3036070,3030286,3021205,2820791,2541966,1533159,737019,10092586,2372546,16189514,1370572,10878362,6282262 1600551 715 NM_001733,AB083037,AC094008,AC140077,CH471116,AK024951,AK094009,AK222481,AK222491,AK291313,BC035220,M14058,X04701 NP_001724,BAC19850,EAW88687,EAW88688,BAD96201,BAD96211,BAF84002,AAH35220,AAA51851,CAA28407,P00736,Q53HT9,Q53HU9,Q68D77 Hs.524224 GDB:119729 protein-coding 1346889 C1RL complement component 1, r subcomponent-like 15385675,15358180,14702039,12838346,12477932,9373149,8125298 51279 NM_016546,AC018653,AC094008,CH471116,AF178985,AK024084,AK222802,BC062428,CR592485 NP_057630,EAW88685,EAW88686,AAF44349,BAB14819,BAD96522,AAH62428,Q6P672,Q9H804,Q9NZP8,AAI56781 Hs.631730 C1RL1|C1RLP|C1r-LP|CLSPa protein-coding 1605130 C1S complement component 1, s subcomponent 9856483,814163,1249422,16335952,16169853,15489334,14702039,14674770,12788922,12645945,12477932,11390518,11337467,10878362,10775260,10630213,10092586,9973493,9882449,9794427,9477945,7779774,6604523,6362661,3756141,3521730,3500856,3007145,2834284,2831944,2553984,2537870,2459702,2372546,2141278,2007122,1854725,1533159 716 NM_201442,NM_001734,AB009076,AC006512,CH471116,AK025309,AK055183,AK290295,AU100335,BC007010,BC056903,CD358820,J04080,M18767,X06596 Q68D96,P04281,P09871,NP_958850,NP_001725,BAA86864,EAW88689,EAW88690,BAF82984,AAH56903,AAA51852,AAA51853,CAA29817 Hs.458355 GDB:119730 protein-coding 1603542 C1orf100 chromosome 1 open reading frame 100 16710414,15489334,12477932 200159 AL645465,NM_001012970,CH471148,BC054479 NP_001012988,CAI15029,CAI15030,EAW77100,EAW77101,Q5SVJ3 Hs.442703 RP11-518L10.1 protein-coding 1604494 C1orf101 chromosome 1 open reading frame 101 16710414,15489334,12477932 257044 NM_173807,AC099757,AL591594,AK027205,BC028392,BC032859,BX648685 NP_776168,CAI14039,CAI14040,AAH32859,Q5SY80,ABM81932,ABW03376 Hs.459534 MGC33370|RP11-523K4.1 protein-coding 1606165 C1orf102 chromosome 1 open reading frame 102 16006562,15489334,14702039,12819961,12477932,8889548 127700 NM_145047,NM_206837,AC119675,CH471059,AA505729,AB079075,AF086535,AF462348,AK098541,AW471215,BC018069,BF691288,CA450619,CR599022,CR612122,CR620198 NP_659484,NP_996668,EAX07364,EAX07365,EAX07366,BAE16984,AAL89738,BAC05326,AAH18069,Q8WVF1,ABM86513,ABW03659 Hs.202207 MGC26685|NOR1|OSCP1 protein-coding 1603986 C1orf103 chromosome 1 open reading frame 103 15383276,16710414,16189514,16169070,15489334,14702039,12477932 55791 NM_001006945,NM_018372,AL360270,CH471122,AK001826,AK002131,AL834466,AY190122,BC008115,BQ787643,BU192014,BU664417,CD686306,CR615710,CR620638 NP_001006946,NP_060842,CAI17128,EAW56460,EAW56461,BAA91928,BAA92097,CAD39125,AAO43631,AAH08115,Q5T3J3 Hs.25245 FLJ11269|RIF1|RP11-96K19.1 protein-coding 1603516 C1orf104 chromosome 1 open reading frame 104 16710414,15489334,14702039,12477932 284618 NM_001039517,AL139410,AK093295,AK125510,BC062571,BC080538,BC131614 NP_001034606,BAC04124,BAC86187,AAH62571,AAH80538,AAI31615,Q66K80,Q6ZUN3 Hs.650801,Hs.708354 FLJ35976|RP11-21N7.3 protein-coding 1603371 C1orf105 chromosome 1 open reading frame 105 17081983,16710414,15489334,12477932 92346 NM_139240,CH471067,Z97195,AL035295,BC038410 NP_640333,EAW90924,CAI19056,CAI19057,CAI19058,CAA22895,AAH38410,O95561,Q5R3C7,Q5R3C8 Hs.517991 RP1-106H8.1 protein-coding 1601862 C1orf106 chromosome 1 open reading frame 106 15489334,14702039,12477932 55765 NM_018265,AC099756,CH471067,AK001583,AK001763,AK025066,BC106877 NP_060735,EAW91323,BAA91771,BAA91892,AAI06878,Q3KP66 Hs.518997 FLJ10901|MGC125608 protein-coding 1604367 C1orf107 chromosome 1 open reading frame 107 16710414,16322560,15489334,14702039,12477932,16189514 27042 NM_014388,AL022398,AL022728,CH471100,AK022766,AK096118,AK123674,AK289613,BC022964,BX345520,BX648514,CR598885,CR749825 NP_055203,CAA18546,CAI95693,EAW93436,EAW93437,BAB14235,BAF82302,AAH22964,CAH56170,CAH18684,Q68CQ4,Q9H9J1 Hs.194754 DEF|DJ434O14.5|DKFZp686E19106|FLJ12704|FLJ41680|MGC29875 protein-coding 1606232 C1orf108 chromosome 1 open reading frame 108 16710414,15489334,14702039,12477932,9373149,8125298 79647 NM_024595,XM_001132247,AL606465,CH471059,AK022728,AK092624,AK124799,AK126262,AK223276,AY326465,BC001498,BC119745,BC119746 NP_078871,XP_001132247,CAI16710,EAX07283,EAX07284,EAX07285,BAB14208,BAD96996,AAR99515,AAI19746,AAI19747,Q6EHZ2,Q9H9L7 Hs.293563 FLJ12666|RP11-781D11.2|STRF2 protein-coding 1606277 C1orf109 chromosome 1 open reading frame 109 14702039,12477932,15489334 54955 NM_017850,AC104336,CH471059,AK000515,AK092319,BC018109,BC063843 NP_060320,EAX07326,EAX07327,EAX07328,EAX07329,EAX07330,BAA91221,AAH18109,AAH63843,Q9NX04 Hs.272673 FLJ20508 protein-coding 1606402 C1orf110 chromosome 1 open reading frame 110 12477932,16710414,15489334,14702039 339512 NM_178550,AL392003,CH471067,AK123573,BC040018 NP_848645,CAI13459,CAI13460,EAW90726,BAC85648,AAH40018,Q5JSG0,Q86UF4 Hs.407631 FLJ41579|MGC48998|RP11-331H2.2 protein-coding 1603514 C1orf111 chromosome 1 open reading frame 111 16189514,12477932 284680 BC032957,NM_182581,AL512785,CH471067,AY248900 AAP20051,AAH32957,Q5T0L3,NP_872387,CAI15778,EAW90701 Hs.97784 HSD20|RP11-565P22.3 protein-coding 1603990 C1orf112 chromosome 1 open reading frame 112 14702039,12477932 55732 NM_018186,AL021940,AL031297,CH471067,AK001568,AK023532,AK096493,AK127098,AL354614,BC011012,BC011445,BC062689,BC091516,BC107168,BC107169,CR626458 NP_060656,CAI19363,EAW90863,EAW90864,EAW90865,EAW90866,BAA91761,BAB14600,CAB89727,AAH91516,AAI07169,AAI07170,Q9NSG2 Hs.443551 FLJ10706|FLJ13470|MGC130018|MGC130019|RP1-97P20.1 protein-coding 1605948 C1orf113 chromosome 1 open reading frame 113 15146197,14702039,12477932,10737800 79729 NM_024676,AL591845,CH471059,AK026591,AK056459,BC036763,BC048273,BC101676,BC101678,BG003040,CN285484 NP_078952,EAX07374,EAX07375,EAX07376,BAB15504,BAB71191,AAH36763,AAH48273,AAI01677,AAI01679 Hs.524496 FLJ22938 protein-coding 1602471 C1orf114 chromosome 1 open reading frame 114 15231748,12477932,9373149,8125298,16189514 57821 NM_021179,AL021068,CH471067,AK098712,AK223354,AL049687,BC008388,BC008389,BC026073,CR599271 NP_067002,CAA15927,CAI19784,CAI19785,EAW90840,EAW90841,BAD97074,CAB41258,AAH26073,Q5TID7 Hs.567557 FLJ25846|RP1-206D15.2 protein-coding 1605938 C1orf115 chromosome 1 open reading frame 115 16710414,16344560,15489334,14702039,12477932,8889548 79762 NM_024709,AL592406,CH471100,AI188887,AK024208,AK056749,AK091937,AK125403,BC036067,BU728891,CR598857,DA175175 NP_078985,CAH72461,EAW93296,EAW93297,BAB14851,AAH36067,Q9H7X2 Hs.519839 FLJ14146|RP11-322F10.4 protein-coding 1604289 C1orf116 chromosome 1 open reading frame 116 16344560,16189514,15525603,14702039,12477932,9389513 79098 NM_001083924,NM_023938,AC098935,CH471100,AK093826,AK096741,AL832940,AY352640,BC000765,BC001943,BC002325,BC018959,BG150416,DA859157 NP_001077393,NP_076427,EAW93511,BAC04233,CAH56284,AAR11484,AAH00765,AAH01943,Q9BPY1,Q9BW04 Hs.32417 DKFZp666H2010|FLJ36507|MGC2742|MGC4309|SARG protein-coding 1604335 C1orf119 chromosome 1 open reading frame 119 16710414,15489334,12477932,10931946 56900 NM_020141,AL356488,CH471122,CS300507,AF164793,AK075191,AK291293,BC008739,BC065186,BC066918,BC067116 NP_064526,CAI19043,EAW56356,EAW56357,CAK32171,AAF80757,BAF83982,AAH08739,AAH65186,AAH66918,AAH67116,Q9NRX6 Hs.82933 AD-020|FLJ90710 protein-coding 1606463 C1orf122 chromosome 1 open reading frame 122 16710414,15489334,14702039,12477932 127687 BC127187,BC127188,CR611050,NM_198446,AL929472,CH471059,AK127381,AY517499,BC057819,BC107856 AAI27188,AAI27189,Q6ZSJ8,NP_940848,CAH70084,CAH70085,EAX07313,EAX07314,EAX07315,EAX07316,BAC86950,AAS76640,AAH57819 Hs.532749 ALAESM|FLJ45459 protein-coding 1603028 C1orf123 chromosome 1 open reading frame 123 16710414,15489334,14702039,12477932 54987 NM_017887,AL606760,CH471059,AK000587,AK092734,AK094371,BC010908,CR457246,CR596024,CR603422,CR623839 NP_060357,CAI18911,CAI18912,EAX06749,EAX06750,EAX06751,EAX06752,BAA91272,AAH10908,CAG33527,Q9NWV4 Hs.525391 FLJ20580|RP5-1024G6.3 protein-coding 1605027 C1orf124 chromosome 1 open reading frame 124 11256614,16381901,15489336,15231748,14702039,12975309,12477932,11230166,11076863,16189514 83932 NM_001010984,NM_032018,AL117352,CH471098,AK027317,AK027613,AL512744,AY358611,BC015740,BC068478,BM480135 NP_001010984,NP_114407,EAW69956,EAW69957,EAW69958,BAB55037,BAB55232,CAC21670,AAQ88974,AAH15740,AAH68478,Q5TE77,Q5TE79,Q96KA0,Q9H040,CAL38277,CAL38338,CAL38506 Hs.554892 DDDL1880|DKFZP547N043|PRO4323|RP5-876B10.3|dJ876B10.3 protein-coding 1605000 C1orf125 chromosome 1 open reading frame 125 14702039,12477932 126859 NM_144696,NM_182766,NG_007535,AL160286,AL451075,CH471067,AK057502,AK058167,AK093460,AL833914,BC146823,BX647935 NP_653297,NP_877498,EAW91045,EAW91046,EAW91047,EAW91048,BAB71513,BAB71698,CAD38770,AAI46824,CAH10571,Q5T1A9,Q5T1B0,Q8NDG7 Hs.658505 DKFZp686H1423|FLJ25438|FLJ32940|RP11-215I23.2 protein-coding 1606706 C1orf127 chromosome 1 open reading frame 127 14702039 148345 NM_173507,AL358492,CH471130,AK094437,AK095152,BC126349 NP_775778,EAW71666,EAW71667,BAC04355,AAI26350,Q8N9H9 Hs.127026 FLJ37118|FLJ37833 protein-coding 1603974 C1orf128 chromosome 1 open reading frame 128 16236267,12477932 57095 NM_020362,AL031295,CH471134,AF218024,AF221595,AF271784,BC017208 NP_065095,CAI23140,CAI23141,CAI23142,EAW95074,EAW95075,EAW95076,AAG17266,AAF91232,AAG44795,AAH17208,Q9GZP4,ABM82845,ABM86029 Hs.31819 HT014|RP5-886K2.4|TXNL1CL protein-coding 1602210 C1orf129 chromosome 1 open reading frame 129 16344560,12477932 80133 NM_025063,AL031965,BX284613,CH471067,AK027203,BC113390,BC113392,DB211602,DB230154 NP_079339,CAI19145,EAW90884,EAW90885,BAB15690,AAI13391,AAI13393,Q5TGP6 Hs.591489 FLJ23550 protein-coding 1606072 C1orf130 chromosome 1 open reading frame 130 16710414,15489334,12477932 400746 NM_001010980,AL445686,CH471134,AK124519,BC050474,BC127785 NP_001010980,CAI14681,EAW95136,AAI27786,Q5T1S8 Hs.200253 FLJ42528 protein-coding 1605298 C1orf131 chromosome 1 open reading frame 131 14702039,12975309,12477932 128061 NM_152379,AL137801,CH471098,AK055124,AY358235,BC036800,BC053609,BC062353,CR603219,CX783674,AL834274 NP_689592,CAI21983,CAI21984,CAI21985,CAI21986,EAW69948,EAW69949,EAW69950,EAW69951,EAW69952,BAB70857,AAQ88602,AAH36800,AAH53609,AAH62353,Q5TBH9,Q6UXR7,Q8NDD1,CAD38949 Hs.556017 DKFZp547B1713 protein-coding 1606866 C1orf132 chromosome 1 open reading frame 132 14702039 388732 XR_000522,XR_000619,AL356275,AK123177 CAI40193,Q5TGB9 Hs.671099 FLJ35650|MCP protein-coding 1602254 C1orf133 chromosome 1 open reading frame 133 12477932 574036 XM_001134414,XM_001134415,XM_001134416,XM_001134417,XM_001720763,AL035414,BC066352,BC094794 XP_001134414,XP_001134415,XP_001134416,XP_001134417,XP_001720815,CAI22281,Q5TG53 Hs.446946 protein-coding 1601974 C1orf135 chromosome 1 open reading frame 135 14702039,12477932,9373149 79000 NM_024037,AL020996,AL033528,CH471059,AK024326,AK223419,BC000209 NP_076942,CAM12868,EAX07863,BAB14886,BAD97139,AAH00209,Q9H7T9 Hs.149305 FLJ14264|MGC2603 protein-coding 1313739 C1orf14 chromosome 1 open reading frame 14 12477932,11318611 81626 BC132764,NM_030933,AF297023,AL450304,AL662837,CH471067,AA448460,AF288397,AF288398,BC026084,BC026086,BC050305 NP_112195,AAG45336,EAW91139,EAW91140,EAW91141,EAW91142,EAW91143,AAG60616,AAG60617,AAH26084,AAH50305,AAI32765,Q9BZQ2 Hs.497034 GDB:11505338 GE36|MGC26911|MGC48296|SHCBP1L protein-coding 1605786 C1orf140 chromosome 1 open reading frame 140 400804 NM_001010913,AL445470,AK128488 NP_001010913,CAH73680,BAC87460,Q5VVS0 Hs.532407 FLJ46636 protein-coding 1606070 C1orf141 chromosome 1 open reading frame 141 12477932 400757 NM_001013674,AL133320,CH471059,BC047053,BC062728,BC090886 NP_001013696,CAI21782,CAI21783,CAI21784,EAX06503,AAH47053,AAH90886,Q5JVX4,Q5JVX6,Q5JVX7 Hs.666621 MGC48454 protein-coding 1601832 C1orf142 chromosome 1 open reading frame 142 16621800,14702039,12477932 116841 NM_053052,AL136378,AL731702,CH471098,AK054633,AY090635,BC001332,BC004418,BC007786,BC011145,BC014059,BC018760,BC025231,BC032775,BX648570,CR600713,CR603918,CR605301,CR606698,CR611957,CR613612,CR626436 NP_444280,CAI23069,CAI23070,CAI23071,CAI23072,EAW69816,EAW69817,BAB70779,AAM09082,AAH01332,AAH04418,AAH07786,AAH11145,AAH14059,AAH18760,AAH25231,AAH32775,CAI45994,Q5SQN1,Q5TBZ4 Hs.325081 DKFZp686M10160|FLJ12517|IMAGE3451454|SNAP-47|SVAP1 protein-coding 1625840 C1orf143 chromosome 1 open reading frame 143 11181995 440714 CH471100 EAW93325 protein-coding 1607050 C1orf144 chromosome 1 open reading frame 144 12761501,12477932 26099 NM_015609,NM_001114600,AL358794,CH471167,AB097042,AB097043,AB097044,AB097045,AB097046,AJ295987,AL050028,AL832937,BC010631,BC023988,BC065538,BX640985,CR593854,CR598986,CR602743,CR619544,CR624498,CR626328,DB501645,CR614958,CR615655,CR616707,CR619138,CR619226 NP_056424,NP_001108072,EAW51777,BAC77395,BAC77396,BAC77397,BAC77398,BAC77399,CAC82500,CAB43245,AAH23988,AAH65538,Q7Z422,Q7Z423,Q7Z425 Hs.252967 DKFZp566C0424|MGC70432 protein-coding 1603476 C1orf146 chromosome 1 open reading frame 146 15496913 388649 NM_001012425,AL451010,CH471097,AA861282,BC130499,BQ435566,BQ435801,BU567193,BU852979 NP_001012425,CAH70759,CAH70760,EAW73099,AAI30500,Q5VVC0 Hs.558823 RP11-163M2.4 protein-coding 1601780 C1orf148 chromosome 1 open reading frame 148 14702039 574432 AK057440 Hs.568467 FLJ32878 protein-coding 1604318 C1orf149 chromosome 1 open reading frame 149 16710414,16387653,16189514,15647280,15489334,14966270,14702039,12963728,12601173,12477932,9373149,9110174,8619474,8125298 64769 NM_022756,AL034379,CH471059,AK021792,AK225434,AK225598,AY007166,AY211926,BC016328,BC043239,BC056406,BX538212,BX640719,CR590031,CR591880,CR592656,CR596619,CR599081,CR607833,CR610825,CR611127,DQ099384 NP_073593,CAI20547,CAI20548,CAI20549,CAI20550,EAX07339,EAX07340,EAX07341,EAX07342,EAX07343,EAX07344,BAB13898,AAO65179,AAH16328,AAH56406,CAD98071,CAE45838,AAZ13760,Q5TGG7,Q9HAF1 Hs.17118 CDABP0189|Eaf6|FLJ11730|NY-SAR-91|RP3-423B22.2 protein-coding 1605281 C1orf150 chromosome 1 open reading frame 150 12477932 148823 NM_145278,AL606804,CH471148,AK123798,AK124520,AK126682,BC024174 NP_660321,CAI17148,CAI17149,EAW77193,BAC85873,AAH24174,Q5JQS6,Q6ZVI8 Hs.662658 FLJ41804|FLJ44728|RP11-978I15.8 protein-coding 1603802 C1orf151 chromosome 1 open reading frame 151 16710414,15489334,14702039,12477932 440574 NM_001032363,AL031727,CH471134,AK094318,AK096240,BC009927,BC070388,BG687187 NP_001027535,CAI19017,EAW94893,AAH09927,AAH70388,Q5TGZ0,Q96G68 Hs.466662 FLJ36999|FLJ75158|RP5-1056L3.2 protein-coding 1602136 C1orf152 chromosome 1 open reading frame 152 12477932,11948409 767846 NR_003242,AL592284,AF345651 AAL83747 Hs.657186 COAS3 pseudo 1603373 C1orf156 chromosome 1 open reading frame 156 16710414,15489334,12477932 92342 NM_033418,AL021940,CH471067,AL035369,AY744366,BC008679,CR450330,CR600232,CR602834,CR609500 NP_219486,CAI19361,CAI19362,EAW90861,EAW90862,CAA23019,AAU95377,AAH08679,CAG29326,O95568,Q5TI78 Hs.33922 AsTP2|MGC9084|RP1-117P20.4 protein-coding 1601805 C1orf157 chromosome 1 open reading frame 157 15489334,14702039,12477932 284573 NM_182579,AC096645,CH471067,AK097662,BC104010,BC104011,BC104012 NP_872385,EAW91498,BAC05136,AAI04011,AAI04012,AAI04013,Q3SY05 Hs.406979 FLJ40343|MGC120329|MGC120330|MGC120332 protein-coding 1602191 C1orf158 chromosome 1 open reading frame 158 16710414,15489334,12477932 93190 NM_152290,AL513016,CH471130,AK026705,BC029894,BX647383 NP_689503,CAH74177,CAH74178,EAW71746,AAH29894,Q8N1D5 Hs.98095 DKFZp686C0236|MGC35194|RP11-474O21.4 protein-coding 1606269 C1orf159 chromosome 1 open reading frame 159 16710414,16344560,15489334,14702039,12975309,12477932 54991 NM_017891,NM_001114103,AL390719,CR626098,DA066689,CH471183,AI270164,AK000591,AK024796,AK054793,AK057368,AK124054,AK128271,AK128434,AY358490,BC008788,BC028173,BU624412,BX394177,CR594538,CR603743,CR613599,CR619768 NP_060361,NP_001107575,CAI14315,CAI14316,CAI14317,CAI14318,Q5T2W7,Q5T2W9,Q6ZRE9,Q6ZVV0,Q96HA4,EAW56288,EAW56289,EAW56290,EAW56291,BAA91276,BAC85760,BAC87361,BAC87438,AAQ88854,AAH08788 Hs.235095 FLJ20584|FLJ21143|FLJ36119|RP11-465B22.4 protein-coding 1604776 C1orf160 chromosome 1 open reading frame 160 15489334,14702039,12477932,11230166,9373149,8125298,16189514,14667819,16710414 84065 CH471059,AF251699,AK095889,AK123218,AK222642,AL136683,BC011579,BC090039,CR590629,CR591696,CR593094,CR603097,CR603432,NM_032125,AL663123,CR603896,CR605192,CR605732,CR607480,CR608798,CR609586,CR612028,CR615465,CR615612,CR623375,DC424669 EAX07763,EAX07764,EAX07765,EAX07766,EAX07767,EAX07768,AAL99388,BAD96362,CAB66618,AAH11579,AAH90039,NP_115501,CAI14790,CAI14791,CAI14793,CAI14794,Q5SSD6,Q5SSD9,Q8TDQ4,Q9H0R3 Hs.469171 DKFZP564D0478|MGC111002|RP11-4K3__A.4 protein-coding 1602303 C1orf161 chromosome 1 open reading frame 161 14702039 126868 NM_152367,AL121982,CH471122,AK096035,BC128148,BC128149 NP_689580,CAI19381,EAW56642,EAW56643,BAC04682,AAI28149,AAI28150,Q8N8X9 Hs.376194 FLJ38716|RP5-1185H19.1 protein-coding 1604535 C1orf162 chromosome 1 open reading frame 162 14702039,12477932 128346 NM_174896,AL390195,CH471122,AK123160,BC017973 NP_777556,CAI15629,CAI15630,EAW56497,EAW56498,AAH17973,Q8NEQ5,ABM82902,ABM86093 Hs.288010 MGC24133 protein-coding 1606511 C1orf163 chromosome 1 open reading frame 163 14702039,12477932,9373149 65260 Q96BR5 NM_023077,AC099784,CH471059,AK022501,AK023237,AK225041,AK225087,BC005992,BC015313 NP_075565,EAX06772,BAB14063,AAH15313,Q96BR5 Hs.584966 FLJ12439 protein-coding 1605659 C1orf164 chromosome 1 open reading frame 164 16713569,16710414,15489334,14702039,12477932,11042152,9373149,8125298 55182 BC062600,BC073835,BC098266,BC098300,BC105790,CR594813,CR604881,CR609124,CR618869,AL122004,AL359373,AL596225,AF151080,AK001459,AK025744,AK056424,AK124639,AK124790,AK225180,BC000279,BC034221,NM_018150 AAH98266,AAH98300,Q5VTB9,Q5VTC0,Q6ZVF1,Q9BWG1,Q9P0N3,NP_060620,CAI22343,CAI22346,CAH72320,CAH72322,CAH72323,AAF36166,BAA91704,BAC85911,AAH00279,AAH34221 Hs.456557 FLJ10597|RP4-678E16.1 protein-coding 1606228 C1orf165 chromosome 1 open reading frame 165 15489334,14702039,12477932,8889548,16189514 79656 NM_024603,AC097062,CH471059,AK021650,AK055449,BC007932,BC011804,BQ006447,BU743157 NP_078879,EAX06848,EAX06849,EAX06850,EAX06851,EAX06852,BAB13864,AAH07932,AAH11804,Q7L4P6 Hs.475348 FLJ11588 protein-coding 1604177 C1orf167 chromosome 1 open reading frame 167 12477932,12370778 284498 XM_209234,XM_001715322,XM_938203,AL953897,AF398935,AL833920,AL833926,AL834308,BC031692,BC128091,BC128092 XP_209234,XP_001715374,XP_943296,CAI15880,CAI15881,CAI15882,CAI15883,CAD38776,CAD38782,CAD38978,AAH31692,AAI28092,AAI28093,Q5SNV7,Q5SNV8,Q5SNV9,Q8NDG0 Hs.585415 DKFZp434E1410|RP11-56N19.2 protein-coding 1604211 C1orf168 chromosome 1 open reading frame 168 16344560,14702039,8889548 199920 NM_001004303,AL035705,AL360295,AK093468,AK125198,BU686304,BX648439,DA523424,DB193989 NP_001004303,BAC86080,CAH56148,Q5VWT5 Hs.437655 FLJ43208|RP4-758N20.2 protein-coding 1606208 C1orf170 chromosome 1 open reading frame 170 12477932 84808 Q5SV97,Q6ZVZ7,Q9BRF2 XM_372194,XM_936696,AL645608,AK123855,BC006300 XP_372194,XP_941789,CAI15571,BAC85711,AAH06300,Q5SV97,Q6ZVZ7,Q9BRF2 Hs.271462 MGC13275|RP11-54O7.8 protein-coding 1602654 C1orf172 chromosome 1 open reading frame 172 14702039,12477932 126695 NM_152365,AL356390,CH471059,AK091952,BC033143,CR749558 NP_689578,EAX07779,BAC03775,AAH33143,CAH18355,Q68D65,Q8NAX2 Hs.188881 FLJ34633|RP11-344H11.3 protein-coding 1603912 C1orf173 chromosome 1 open reading frame 173 12477932 127254 NM_001002912,AC096950,BX470253,CH471059,AI028350,AK127470,AL833250,AL834414,BC035114,BC044605,BC073916,CR749349 NP_001002912,EAX06413,EAX06414,BAC86994,CAD39076,AAH73916,CAH18202,Q5RHP9 Hs.531182 DKFZp547I048|DKFZp761G1720|DKFZp781L0319|MGC90412|RP11-653A5.1 protein-coding 1603248 C1orf174 chromosome 1 open reading frame 174 16169070,14702039,12477932 339448 NM_207356,AL691523,BX005110,CH471130,AK125092,AK289493,BC035643,BC047611,BC067302,CR612189 NP_997239,CAI17365,CAI17266,EAW71492,EAW71493,BAF82182,AAH35643,AAH67302,Q8IYL3 Hs.103939 RP13-531C17.2 protein-coding 1605524 C1orf175 chromosome 1 open reading frame 175 14702039,12477932,8889548 374977 NM_001039464,AL139244,AL590093,AK093272,AK128221,AK130047,AL042708,AL096749,AL117640,AL704849,AL832492,BC029191,BC095478,BC126126,BM673384,CR749830 NP_001034553,CAI18991,BAC04116,BAC87334,BAC85285,CAH10722,AAH29191,Q69YY0,AAI26127,CAH18687,Q5VUG3,Q5VUG4,Q68CQ1 Hs.709710 DKFZp434K085|FLJ46354 protein-coding 1601975 C1orf176 chromosome 1 open reading frame 176 15302935,14702039,12477932 64789 NM_022774,AL603839,CH471059,AF086542,AK021507,AK023245,AK024797,AK094092,BC021969,CR615829 NP_073611,CAI16298,CAI16299,CAI16300,CAI16301,CAI16302,CAI16303,EAX07210,EAX07211,EAX07212,EAX07213,EAX07214,BAB15008,AAH21969,Q9H790 Hs.59584 FLJ11445|FLJ13183|FLJ21144 protein-coding 1603553 C1orf177 chromosome 1 open reading frame 177 14702039,12477932 163747 NM_152607,NM_001110533,AC096536,CH471059,AK097520,BC039109,BC064142,BU633253 NP_689820,NP_001104003,EAX06665,EAX06666,BAC05087,AAH39109,AAH64142,Q3ZCV2 Hs.376018 FLJ40201 protein-coding 1641969 C1orf180 chromosome 1 open reading frame 180 14702039 439927 NM_001033660,AC114482,CH471097,AK092806 NP_001028832,EAW73229,BAC03979,Q8NAE3 Hs.407054 FLJ35487 protein-coding 1607024 C1orf181 chromosome 1 open reading frame 181 17081983,16710414,15489334,15231748,14702039,12747765,12477932 54680 NM_017953,AC092807,AC099561,BX323040,CH471097,AF308296,AK000736,AK000767,AL442074,BC026236,BC110898,CR623162 NP_060423,EAW73194,EAW73195,AAG48263,BAA91349,BAA91371,CAC09440,AAH26236,AAI10899,Q9NWK9,ABZ92340 Hs.5111 FLJ20729|FLJ20760|MGC131963|NY-BR-75 protein-coding 1604756 C1orf182 chromosome 1 open reading frame 182 15489334,12477932,16710414,16189514 128229 NM_144627,AL589685,CH471121,AY048672,AY048673,BC014605 NP_653228,CAI14171,EAW52964,EAW52965,EAW52966,AAL07513,AAL07514,AAH14605,Q96A04,ABM82179,ABM85365 Hs.534539 MGC26877|RP11-443G18.5|SSTK-IP protein-coding 1603392 C1orf183 chromosome 1 open reading frame 183 14702039,12477932 55924 NM_198926,NM_019099,AL049557,CH471122,AK055667,AK092074,AK094997,AL137198,AL137199,BC031558 NP_945120,NP_061972,CAI22713,EAW56504,EAW56505,CAB69908,CAB69909,AAH31558,Q9NTI7 Hs.193406,Hs.657857 FLJ31105 protein-coding 1601929 C1orf184 chromosome 1 open reading frame 184 16710414 149281 XM_089281,XM_001718898,XM_939434,AL445203 XP_089281,XP_001718950,XP_944527,CAH72139,Q5VVY1 Hs.553612 protein-coding 1601806 C1orf185 chromosome 1 open reading frame 185 16710414,14702039 284546 XM_209252,XM_001726547,XM_942420,AL162430,AK130995 XP_209252,XP_001726599,XP_947513,CAI13130,Q5T7R7 Hs.176177 FLJ27485 protein-coding 1606860 C1orf186 chromosome 1 open reading frame 186 16710414,15489334,14702039,12477932 440712 NM_001007544,AX118901,BX571818,CH471067,AK122631,BC071785 NP_001007545,CAC38524,CAH73263,EAW91594,BAC85497,AAH71785,Q6ZWK4 Hs.662248 FLJ16052 protein-coding 1605526 C1orf187 chromosome 1 open reading frame 187 16710414,16303743,15489334,15340161,14702039,12975309,12477932 374946 NM_198545,AL031731,AL953897,CH471130,AK075558,AK092318,AY358750,BC021286,BC111064,BM928129 NP_940947,CAI20222,CAI15884,EAW71700,EAW71701,BAC11697,AAQ89110,AAI11065,Q8NBI3 Hs.371716,Hs.632364 AGPA3119|FLJ34999|MGC117222|UNQ3119 protein-coding 1606869 C1orf189 chromosome 1 open reading frame 189 16710414,15489334 388701 NM_001010979,AL590431,CH471121,BC127710,BC130509 NP_001010979,CAH71271,EAW53228,AAI27711,AAI30510,Q5VU69 Hs.104967 protein-coding 1318440 C1orf19 chromosome 1 open reading frame 19 tRNA splicing is a fundamental process required for cell growth and division. SEN15 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 15231747,16341674,16189514,15489334,15231748,15109492,14702039,12477932,11318611 116461 NM_052965,NM_001127394,NR_023349,AL157943,AL158011,CH471067,AF288394,AK098196,AK307241,BC022030,BG285158,BM789892,BM887891,CB158796,CR606046,CR612120,CR620942 NP_443197,NP_001120866,EAW91173,EAW91174,EAW91175,AAG60614,AAH22030,Q5T995,Q5T996,Q5T997,Q5T9A6,Q8WW01 Hs.548197 GDB:11505340 sen15 protein-coding 1605156 C1orf190 chromosome 1 open reading frame 190 16710414,16189514,15489334,14702039,12477932 541468 NM_001013615,AL672043,CH471059,AK057892,BC034422,CR590915,CR612816 NP_001013633,CAH72471,EAX06931,BAB71608,AAH34422,Q96LR2 Hs.568642 FLJ25163 protein-coding 1604188 C1orf192 chromosome 1 open reading frame 192 257177 NM_001013625,AL592295,CH471121 NP_001013647,CAH70272,EAW52596,Q5VTH2 Hs.534593 protein-coding 1626188 C1orf193 chromosome 1 open reading frame 193 100101443 NM_001099689,AL513523 NP_001093159,CAH71419 FLJ21919 protein-coding 1604538 C1orf194 chromosome 1 open reading frame 194 12477932,11329013 127003 BG772797,NM_001122961,AL138933,AL356488,BC127905,BG196327,XM_059104,XM_001722455,XM_938238 Q5T5A2,Q5T5A4,XP_943331,NP_001116433,CAI22276,CAI22277,CAI19040,XP_059104,XP_001722507 Hs.446962 protein-coding 1604852 C1orf196 chromosome 1 open reading frame 196 780789 AL031273,Z99291 Q5THJ9 protein-coding 1604859 C1orf197 chromosome 1 open reading frame 197 653311 XM_928433,AC092811 XP_933526 FLJ43126|PRO0650 protein-coding 1602995 C1orf198 chromosome 1 open reading frame 198 16710414,15489334,14702039,12665801,12477932 84886 AK096166,AK131306,AK292433,AL713769,AL833809,BC004870,BC066649,NM_032800,AL118511,CH471098,AK027431,CR594117,CR617064 BAD18472,BAF85122,AAH66649,NP_116189,CAC13161,EAW69923,EAW69924,EAW69925,EAW69926,EAW69927,BAB55105,Q6ZNA3,Q9H425 Hs.568242 DKFZp667D152|FLJ14525|FLJ16283|FLJ38847|MGC10710 protein-coding 1314529 C1orf2 chromosome 1 open reading frame 2 15064722,14702039,12477932,9331372,9110174,8619474 10712 BC006297,BC006493,BC007444,BC008854,BC010471,BC017262,BC033707,BC040136,CR607925,NM_006589,NM_000157,NM_001005741,NM_001005742,NM_001005749,NM_001005750,AF023268,AL713999,CH471121,AF070550,AK093335,AL353941,NM_198264 AAH06297,AAH06493,AAH07444,AAH08854,AAH10471,AAH17262,AAH40136,P81408,Q4VX19,Q4VX21,Q8IXL3,Q96AD8,Q96H71,Q9BR66,Q9BRF4,NP_937995,NP_006580,AAC51822,CAI95091,CAI95092,CAI95093,CAI95094,EAW53094,EAW53095,EAW53096,EAW53097,EAW53098,EAW53099,AAC28638,Q9Y6J7,ABZ92294 Hs.282997,Hs.348308 GDB:9865632 COTE1 protein-coding 1348164 C1orf20 chromosome 1 open reading frame 20 11318611 116492 AF288396 Hs.693174 GDB:11505334 protein-coding 1626542 C1orf200 chromosome 1 open reading frame 200 14702039,12477932 644997 NM_001045478,AL691449,CH471130,AK097325,BC016063 NP_001038943,CAI15698,EAW71628,BAC04998,Q5SR53,Q8N853 Hs.568595 protein-coding 1604766 C1orf201 chromosome 1 open reading frame 201 14702039,12477932 90529 NM_178122,AL031431,CH471134,AK025957,AK090659,BC017650,BC034315,BC035061,BC040212,BC047705,BC063891,CR591554 NP_835223,CAI21408,CAI21409,CAI21410,CAI21411,EAW95124,EAW95125,EAW95126,EAW95127,EAW95128,EAW95129,BAC03498,AAH17650,AAH35061,AAH47705,AAH63891,Q5TH74,Q5TH77,Q8NBE7 Hs.403187 FLJ33340 protein-coding 1603000 C1orf203 chromosome 1 open reading frame 203 12477932 84852 BC018892,BC007373,BC028281 Hs.664752 MGC16179 protein-coding 1601704 C1orf204 chromosome 1 open reading frame 204 14702039 284677 AK096506,CR612954,CR625159 Hs.647718 FLJ39187 protein-coding 1319257 C1orf21 chromosome 1 open reading frame 21 16710414,16341674,15489334,14702039,12477932,11318611,9110174,8619474 81563 NM_030806,AL078645,AL358152,AL445228,CH471067,AF035282,AF312864,AK056487,AL699720,AY258286,BC028567,BF575955,BG823539,BM793961,BQ431539,BX648959,CD000222,CR601182,CR627007 NP_110433,EAW91176,EAW91177,AAG45338,BAB71196,AAP82231,AAH28567,Q5T4N1,Q9H246 Hs.497159,Hs.571795 GDB:11504915 PIG13 protein-coding 1603568 C1orf210 chromosome 1 open reading frame 210 16341674,15489334,12477932 149466 NM_182517,AC093420,CH471059,BC041633,BM273035,BM784450 NP_872323,EAX07108,EAX07109,AAH41633,Q8IVY1 Hs.158963 MGC52423 protein-coding 1606189 C1orf212 chromosome 1 open reading frame 212 16303743,12477932 113444 NM_138428,AL122010,CH471059,CQ782810,AK074853,BC011880,BC030120,BC034598,BC064320,BC073851,BC093838,BC107421,BC112231 NP_612437,EAX07437,EAX07438,EAX07439,CAF86037,BAC11246,AAH11880,AAH34598,AAH73851,AAH93838,AAI07422,AAI12232,Q49AP7,Q96EX1 Hs.27160,Hs.595007 FLJ90372|MGC138436 protein-coding 1605280 C1orf213 chromosome 1 open reading frame 213 12477932 148898 NM_001008896,NM_138479,AL109936,CH471134,CQ782969,AK074989,BC007899,BC028411,BC054115,BC068594,BQ072309,BX098506 NP_001008896,NP_612488,EAW95046,CAF86197,BAC11338,AAH28411,AAH54115,AAH68594,Q8NC38 Hs.61884 FLJ90508 protein-coding 1602984 C1orf216 chromosome 1 open reading frame 216 16189514,14702039,12477932 127703 NM_152374,AL354864,CH471059,AK096303,AK096466,BC026909,CR621322 NP_689587,EAX07403,EAX07404,BAC04755,BAC04799,AAH26909,Q8TAB5 Hs.112023 FLJ38984 protein-coding 1601758 C1orf218 chromosome 1 open reading frame 218 14702039,12477932 54530 NM_019049,AL139136,AK000061,AK024832,AK091207,AL831839,BC074735 NP_061922,CAI15312,BAA90918,BAB15024,CAD38548,AAH74735,Q5TAI8,Q6B0I8,Q9H774,Q9NXU2 Hs.657779 DKFZp547O0715|FLJ20054 protein-coding 1602948 C1orf220 chromosome 1 open reading frame 220 14702039 400798 NM_207467,AL513013,CH471067,AK092849,BC136727 NP_997350,CAI23540,CAI23541,EAW91026,BAC03990,AAI36728,Q5T0J3 Hs.668085 DKFZp564J047|FLJ35530 protein-coding 1606656 C1orf222 chromosome 1 open reading frame 222 12477932 339457 NM_001003808,AL109917,AL137547,BC114926 NP_001003808,CAM12840,CAH10703,AAI14927,Q69YW0 Hs.259619 MGC133181 protein-coding 1317348 C1orf25 chromosome 1 open reading frame 25 This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene, but their full-length nature is not known. 17198746,16344560,15635413,14702039,12477932,11318611 81627 NM_030934,AL109865,AL136133,CH471067,CQ783798,AF163261,AF288399,AK027418,AK074936,AK074993,AK098359,AK131460,AK226103,BC026883,BC035430,BC039738,BC045535,BC053961,DB093548 NP_112196,CAI17847,CAI17851,CAI17938,EAW91189,EAW91190,CAF86867,AAQ13590,AAG60618,BAC11302,BAC11341,BAD18605,AAH39738,AAH45535,Q5XKG7,Q7Z2T5 Hs.591488 GDB:11505326 MGC25112|MGC57134|MST070|MSTP070|TRM1L|bG120K12.3 protein-coding 1318617 C1orf26 chromosome 1 open reading frame 26 16710414,15489334,14702039,12477932,11318611,9373149,8125298 54823 NM_001105518,NM_017673,AL136133,AL356273,CH471067,AF288392,AK000128,AK093263,AK127980,AK225238,AK291443,BC030781,BI756018,DB453411,DB518900 NP_001098988,NP_060143,CAI17939,CAI17940,EAW91191,AAG60612,BAA90960,BAF84132,AAH30781,Q5T5J6,Q5TC96 Hs.134183 GDB:11505332 FLJ20121|FLJ35944 protein-coding 1346906 C1orf27 chromosome 1 open reading frame 27 18187418,15718105,12868032,12477932,11318611 54953 NM_017847,AL596220,CH471067,AF214011,AK000171,AK000512,AK026086,AY854248,BC003397,CR598039,DQ323046,DQ529299 NP_060317,CAI13121,EAW91207,EAW91208,EAW91209,AAL56643,BAA91218,BAB15356,AAW30011,AAH03397,ABC50092,ABF71985,Q5SWX8 Hs.371210 FLJ20505|TTG1|odr-4 protein-coding 1342892 C1orf30 chromosome 1 open reading frame 30 140784 GDB:11505366 1352912 C1orf31 chromosome 1 open reading frame 31 16710414,16381901,15489336,15489334,12477932,11076863 388753 NM_001012985,AL355472,CH471098,BC025793,BC035925,BC116455,CR609197 NP_001013003,CAI22928,CAI22929,CAI22930,EAW69992,AAH25793,AAI16456,Q5JTJ3,CAL38197,CAL38653 Hs.23198 GDB:11505370 protein-coding 1345788 C1orf32 chromosome 1 open reading frame 32 16710414 387597 NM_199351,AL009182,CH471067,AF503509 NP_955383,EAW90779,AAQ07593,Q71H61,AAI48433 Hs.493589 RP4-782G3.2|dJ782G3.1 protein-coding 1322418 C1orf34 chromosome 1 open reading frame 34 12477932,9461476,9455484 22996 NM_001080494,AL162430,AL671986,CH471059,AB007921,AF007170,AK000220,BC004399,BC028374 NP_001073963,CAI13131,CAI13132,CAI13133,CAI13134,CAI13135,CAI13136,CAI13137,CAI13138,CAI13142,EAX06826,BAA32297,AAC39582,AAH04399,AAH28374,Q5SRH9 Hs.112949 GDB:9957861 DEME-6|KIAA0452 protein-coding 1312112 C1orf35 chromosome 1 open reading frame 35 16710414,16189514,15635413,15489334,14702039,12545221,12477932 79169 NM_024319,AL136379,CH471098,AK123377,AK126087,AY137773,BC002843,BC062585,CR617695,CR622015 NP_077295,CAI23119,EAW69837,EAW69838,EAW69839,BAC85598,BAC86431,AAN15215,AAH02843,AAH62585,Q9BU76 Hs.445952 GDB:11510656 MGC4174|MMTAG2 protein-coding 1353481 C1orf38 chromosome 1 open reading frame 38 9563507,16710414,16219472,15489334,14702039,12477932,12191572 9473 NM_001105556,NM_004848,NM_001039477,AL109927,CH471059,AA477142,AB035482,AB050854,AF044896,AF323721,AK094833,BC031655,BC081568,BC132692,BC133049,BG716895,BI908174,BM146655,CR604917,CR749321,DB548309 NP_001099026,NP_004839,NP_001034566,CAI21768,CAI21769,CAI21770,CAI21771,CAI21772,CAI21773,EAX07725,EAX07726,EAX07727,EAX07728,EAX07729,EAX07730,BAA96464,BAB33313,AAC16284,BAC04431,AAH31655,AAH81568,AAI32693,AAI33050,CAH18176,Q5TEJ8,Q66I30,Q8N1V6 Hs.10649 ICB-1 protein-coding 1345374 C1orf41 chromosome 1 open reading frame 41 737633 18154656,17275951,15489334,12477932,11042152,9373149,8125298,2018407,16189514 737633 51668 NM_016126,AL031427,CH471059,AF100747,AF416725,AF417114,AK225916,BC005245,BC045699 NP_057210,EAX06717,EAX06718,EAX06719,AAD43011,AAQ03618,AAQ03994,AAH05245,Q9Y547 Hs.525462,Hs.624686 HSPCO34|PP25 protein-coding 1603678 C1orf43 chromosome 1 open reading frame 43 16710414,16094384,15489334,12477932,11230159,11042152 25912 NM_138740,NM_015449,NM_001098616,AL590431,CH471121,AF077036,AF109185,AF529365,AJ243663,AJ243664,AJ243665,AK290583,AL117463,BC000152,BC001377,BC006514,BC008306,BC014391,BC088353,BU072807,CR457131,CR594201,CR597803,CR597953,CR598243,CR599474,CR601087,CR605126,CR605838,CR606320,CR606449,CR606555,CR606853,CR607212,CR608586,CR609329,CR610380,CR611597,CR613431,CR614553,CR615706,CR616404,CR617350,CR624910,CR626375,DB457727,DQ908899,DR007097,CR590700 NP_620077,NP_056264,NP_001092086,CAH71272,CAH71273,CAH71274,CAH71275,CAH71276,CAH71277,EAW53221,EAW53222,EAW53223,EAW53224,EAW53226,EAW53227,AAD27769,AAQ13494,AAQ09599,CAB65094,CAB65095,CAB65096,BAF83272,CAB55939,AAH00152,AAH01377,AAH06514,AAH08306,AAH14391,AAH88353,CAG33412,EAW53225,ABI60896,Q09GN0,Q9BWL3 Hs.287471 DKFZp586G1722|HSPC012|MGC111001|NICE-3|NS5ATP4|S863-3 protein-coding 1348895 C1orf46 chromosome 1 open reading frame 46 9344646 388699 AF005082 AAB83962,O14635 Hs.516420 xp33 protein-coding 1348676 C1orf49 chromosome 1 open reading frame 49 11256614,17077512,16710414,16381901,15489336,15489334,14702039,12477932,11230166,11076863 84066 NM_032126,AL513013,CH471067,AK093269,AK097518,AL136694,BC034972 NP_115502,CAI23534,CAI23535,CAI23536,CAI23537,CAI23538,CAI23539,EAW91023,EAW91024,EAW91025,BAC04115,BAC05085,CAB66629,AAH34972,Q5T0J7,Q5T0J8,CAL37752,CAL38540 Hs.534501 DKFZP564J047|FLJ40199|MGC26863|RP5-990P15.1 protein-coding 1349502 C1orf5 chromosome 1 open reading frame 5 10759 GDB:9958247 1350429 C1orf50 chromosome 1 open reading frame 50 737633 16344560,15489334,12477932 737633 79078 NM_024097,AC098484,CH471059,BC001508,BC001711,BE464824,DA684965 NP_077002,EAX07138,EAX07139,EAX07140,EAX07141,AAH01508,AAH01711,Q9BV19 Hs.148845 MGC955 protein-coding 1347816 C1orf51 chromosome 1 open reading frame 51 737633 16710414,15489334,14702039,12477932 737633 148523 NM_144697,AL138795,CH471121,AK056960,AK098755,BC017397,BC027999,BC047238 NP_653298,CAI22816,CAI22817,CAI22818,CAI22819,EAW53560,EAW53561,EAW53562,EAW53563,EAW53564,BAB71326,BAC05404,AAH17397,AAH27999,AAH47238,Q5TB12,Q5TB13,Q5TB14,Q8N365,Q8WVX4 Hs.54680 FLJ25889 protein-coding 1346419 C1orf52 chromosome 1 open reading frame 52 737633 17081983,16710414,15592455,15489334,12477932,11891061 737633 148423 NM_198077,AL590113,CH471097,AF387611,AF387612,AK126929,AY486331,AY486332,BC029538 NP_932343,CAH71555,CAH71556,EAW73209,AAL91352,AAL91353,AAS57906,AAS57907,AAH29538,Q8N6N3 Hs.26226 FLJ44982|RP11-234D19.1|gm117 protein-coding 1606868 C1orf53 chromosome 1 open reading frame 53 16710414,15897902,15489334,12477932 388722 NM_001024594,AL590115,CH471067,BC038214,BC130608,BC130634 NP_001019765,CAH71758,CAH71759,EAW91286,AAI30609,AAI30635,Q5VUE5 Hs.61329 protein-coding 1606237 C1orf54 chromosome 1 open reading frame 54 16710414,16381901,15489336,15489334,14702039,12477932,11076863 79630 NM_024579,AL138795,CH471121,AK026874,BC017761 NP_078855,CAI22814,CAI22815,EAW53568,EAW53569,BAB15579,AAH17761,Q8WWF1,CAL37698,CAL37836,CAL37944,CAL38127,CAL38340,CAL38425,CAL38495,CAL38528,CAL38617 Hs.91283 FLJ23221 protein-coding 1603354 C1orf55 chromosome 1 open reading frame 55 14702039,12477932 163859 NM_152608,AL133288,CH471098,AK092701,AK127780,AK291008,BC016290,BC071563,BX648319,CB140971,CR599350 NP_689821,CAI22305,CAI22306,EAW69768,EAW69769,BAC03952,BAC87130,BAF83697,AAH71563,Q6IQ49 Hs.520192 FLJ35382|RP4-671D7.1|dJ671D7.1 protein-coding 1603033 C1orf56 chromosome 1 open reading frame 56 12975309,12477932 54964 NM_017860,AL590133,CH471121,AK000526,AY358436,BC002469,CR598699 NP_060330,CAI13348,EAW53481,EAW53482,BAA91231,AAQ88802,AAH02469,Q9BUN1 Hs.549171 FLJ20519|RP11-316M1.9 protein-coding 1604264 C1orf57 chromosome 1 open reading frame 57 15489334,12477932 84284 NM_032324,AL122003,AL122004,CH471098,AF416713,BC005102,CR610348,CR612278,CR615057,CR620575 NP_115700,CAI22243,CAI22244,CAI22337,CAI22338,CAI22339,EAW69976,EAW69977,EAW69978,EAW69979,EAW69980,AAL16807,AAH05102,Q5TDE5,Q5TDE9,Q9BSD7 Hs.706832 FLJ11383|MGC13186|RP4-659I19.2|RP4-678E16.2 protein-coding 1606705 C1orf58 chromosome 1 open reading frame 58 18190528,17411337,14702039,12477932,11181995 148362 NM_144695,AL392172,CH471100,AB276123,AI243754,AI911339,AK056983,BC113635,BC113637 NP_653296,CAH73931,CAH73932,EAW93265,BAF56045,BAB71331,AAI13636,AAI13638,Q5VW32,Q5VW33 Hs.552608 Brox|FLJ32421|MGC142195|MGC142197|RP11-452F19.1 protein-coding 1602307 C1orf59 chromosome 1 open reading frame 59 15342556,14702039,12477932 113802 NM_144584,NM_001102592,AL160171,CH471122,AK055087,BC012198,BC088366,BP378034,CR621929,DB510959 NP_653185,NP_001096062,EAW56324,EAW56325,EAW56326,BAB70852,AAH12198,AAH88366,Q5T8I8,Q5T8I9 Hs.7962 FLJ30525|MGC111091|RP11-256E16.2 protein-coding 1607071 C1orf61 chromosome 1 open reading frame 61 14702039,12477932,10995546 10485 NM_006365,AL139130,CH471121,AK095622,AK095626,BC010558,BC016405,BC050448,BC050741,BC054045,BC059943,BC107686,BC128199,BC128200,BC141918,BC141919,U49857 NP_006356,CAI12172,CAI12173,CAI12176,EAW52956,BAC04592,AAH50448,AAH59943,AAA93029,Q13536,Q6PB34,Q86W69,Q8N964,AAI52850,AAI56769 Hs.380027 CROC4|FLJ38303|RP11-139I14.3 protein-coding 1604964 C1orf62 chromosome 1 open reading frame 62 14702039,12477932 254268 NM_152763,AL449266,CH471122,AK095517,AL832216,BC030647 NP_689976,CAI14354,CAI14356,CAI14357,EAW56333,EAW56334,EAW56335,EAW56336,EAW56337,EAW56338,BAC04565,AAH30647,Q5T1M9,Q5T1N0,Q5T1N1,Q5T1N2,Q5T1N3,Q5T1P0,Q8N990,Q8NCN9,ABM82553,ABM85744 Hs.514662 MGC26989|RP11-475E11.3 protein-coding 1603978 C1orf63 chromosome 1 open reading frame 63 16189514,12477932,9373149 57035 NM_020317,NG_003255,AL031432,CH471134,AF247168,AF267856,AK027318,AK226012,AK292532,AL576262,BC001892,BC041843,BC065040,BI756502,CR591414,CR598998 NP_064713,CAB37992,EAW95157,EAW95158,EAW95159,EAW95160,EAW95161,AAG44543,AAG44725,BAB55038,BAF85221,AAH01892,AAH41843,AAH65040,Q9BUV0 Hs.259412 DJ465N24.2.1|NPD014|RP3-465N24.4 protein-coding 1603359 C1orf64 chromosome 1 open reading frame 64 16710414,15489334,12477932 149563 NM_178840,AL355994,CH471167,AK127425,BC017946 NP_849162,CAI16132,EAW51759,AAH17946,Q8NEQ6 Hs.29190 MGC24047|RP11-5P18.4 protein-coding 1602974 C1orf65 chromosome 1 open reading frame 65 16710414,16189514,15489334,14702039,12477932 164127 NM_152610,AL590669,CH471100,AK093047,BC030026,BC031066 NP_689823,CAI16672,EAW93256,BAC04033,AAH30026,AAH31066,Q8N715 Hs.192090 FLJ35728|RP11-76K24.1 protein-coding 1603041 C1orf66 chromosome 1 open reading frame 66 12477932,10810093,310876 51093 NM_015997,AL590666,CH471121,AF151800,AK000412,BC011382,CR598294,CR608863,CR612635,CR619536 NP_057081,CAI16342,CAI95323,EAW52915,EAW52916,EAW52917,EAW52918,AAD34037,AAH11382,Q96FB5 Hs.512597 CGI-41 protein-coding 1603881 C1orf67 chromosome 1 open reading frame 67 15146197,12477932 200095 NM_144989,AC093560,AL590547,CH471098,AI076810,BC017415,BC042869,BC119716,BC119717,CN257875 NP_659426,CAH73045,EAW69735,EAW69740,AAI19717,AAI19718,Q0VDD8,Q8IVP0 Hs.133977 MGC149665|MGC149666|MGC27277|MGC51214 protein-coding 1602382 C1orf68 chromosome 1 open reading frame 68 9344646,11698679 553168 AF005081,AL353779,CH471121 AAB83961,CAI20975,EAW53369,Q5T750 Hs.601077 LEP7 protein-coding 1606941 C1orf69 chromosome 1 open reading frame 69 16710414,15146197,14702039 200205 NM_001010867,AL359510,CH471098,AK022796,AK023911,BI820993,CA425016,CN285775,CR615475,DN831582 NP_001010867,CAI15071,EAW69862,Q5T440 Hs.237017,Hs.636881 FLJ12734|FLJ13849 protein-coding 1603247 C1orf70 chromosome 1 open reading frame 70 11181995 339453 XM_294960,XM_001714140,XM_001714132,NM_001114748,AL645728,CH471183,BF446167,BU929336,EG328560 XP_294960,XP_001714192,XP_001714184,NP_001108220,CAI22949,EAW56184,EAW56185 Hs.668654 protein-coding 1606946 C1orf71 chromosome 1 open reading frame 71 11256614,16381901,16189514,15489336,14702039,12477932,11230166,11076863 163882 NM_152609,AL356583,AL591623,AL646019,CH471148,AK056563,AK074142,AK091739,AL834246,BC010228,BC036200,BX647629 NP_689822,CAH70030,CAH70031,CAH70032,EAW77154,EAW77155,EAW77156,EAW77157,EAW77158,EAW77159,BAB71218,BAB84968,BAC03735,CAD38922,AAH10228,AAH36200,Q0JTF6,Q6PJW8,CAL37458,CAL38207 Hs.368353 FLJ32001|MGC18089|RP11-452J6.1 protein-coding 1606707 C1orf74 chromosome 1 open reading frame 74 16710414,15489334,14702039,12477932 148304 NM_152485,AL022398,CH471100,AK057807,BC039719,CR598637,CR599983 NP_689698,CAI95691,EAW93440,BAB71584,AAH39719,Q96LT6 Hs.497642 FLJ25078 protein-coding 1605572 C1orf76 chromosome 1 open reading frame 76 17208556,16710414,15489334,12477932 148753 NM_173509,AL359853,CH471067,AB299025,AK292432,AY902195,BC009382,CR594925 NP_775780,CAH70381,EAW91055,BAF96730,BAF85121,AAX07133,AAH09382,Q96GL9,ABM84042,ABM87389 Hs.400696 MGC16664|NDSP|RP11-12M5.2|cebelin protein-coding 1607051 C1orf77 chromosome 1 open reading frame 77 14667819,17081983,16710414,15498874,15489334,14702039,12477932 26097 NM_015607,AL162258,CH471121,AF261137,AF318362,AK095230,AL050260,AL512704,BC002733,BC059949,BC070027,BC108721,BC120961,BC120962,CR612307 NP_056422,CAI19678,CAI19679,CAI19680,CAI19681,EAW53290,EAW53291,EAW53292,EAW53293,EAW53294,EAW53295,AAG44673,AAL55869,CAB43362,CAC21650,AAH02733,AAH59949,AAH70027,AAI08722,AAI20962,AAI20963,Q0VAQ8,Q5T7Y7,Q5T7Y9,Q9Y3Y2 Hs.611057 DKFZP547E1010|MGC131924|MGC86949|RP1-178F15.2|pp7704 protein-coding 1602695 C1orf78 chromosome 1 open reading frame 78 16710414,15489334,14702039,12477932 55194 NM_018166,AL591845,CH471059,AK001509,BC006241,BC071697 NP_060636,CAH71861,EAX07377,EAX07378,BAA91729,AAH06241,AAH71697,Q9NVM1 Hs.87016 FLJ10647|RP11-268J15.2 protein-coding 1605604 C1orf79 chromosome 1 open reading frame 79 16710414,14702039,12477932 85028 XM_930434,XM_378848,XM_934811,XM_934810,XM_934809,XM_940389,XM_944567,XM_944569,XM_944566,XM_944565,AL513497,AF277181,AK092096,AY277594,BC022205,BC064589,BC068048 XP_935527,XP_378848,XP_939904,XP_939903,XP_939902,XP_945482,XP_949660,XP_949662,XP_949659,XP_949658,CAI22289,AAK07540,AAQ18033,Q9BXW3 Hs.632377 RP4-669K10.5 protein-coding 1601890 C1orf81 chromosome 1 open reading frame 81 647215 XM_930255,XM_930256,XM_940946,AC099756,DQ983818 XP_935348,XP_935349,XP_946039 Hs.576503 protein-coding 1606976 C1orf83 chromosome 1 open reading frame 83 14702039,12477932 127428 AL353898,CH471059,AK056674,AK096488,NM_153035,AL049253,BC035374,CR592771 NP_694580,CAI22668,CAI22669,EAX06703,BAB71250,BAC04803,AAH35374,Q96MN5,ABZ92131 Hs.558618 FLJ32112|FLJ39169|RP4-758J24.3 protein-coding 1603567 C1orf84 chromosome 1 open reading frame 84 15028280,14702039,12477932,10737800 149469 NM_001012961,AL139289,AK091821,AK131107,BC017576,BC051343,BF926328,BF927604,BG984696,BI040554,BU101724 NP_001012979,BAC03755,BAC85157,AAH17576,Q5JUY7,Q6ZNI8,Q8NAY9,AAI48354 Hs.708007 FLJ34502|RP11-506B15.1 protein-coding 1602078 C1orf85 chromosome 1 open reading frame 85 18021396,16303743,12975309,12477932 112770 CR604091,CR606079,CR607336,CR608841,CR609055,CR613020,CR613276,CR615363,CR618333,CR624009,CR625752,CR625843,CR625850,CR626023,AL589685,CH471121,CS051139,CS072256,AK075349,NM_144580,AY358450,BC011575,BC018757,BC036340,CR590480,CR591234,CR592268,CR595391,CR596478,CR597089,CR597258,CR597923,CR600472,CR600990 Q8WWB7,NP_653181,CAI14164,CAI14165,EAW52968,EAW52969,CAI72065,CAI93394,BAC11561,AAQ88815,AAH11575,AAH18757,AAH36340 Hs.202522 MGC31963|NCU-G1|RP11-443G18.2 protein-coding 1604208 C1orf86 chromosome 1 open reading frame 86 14702039,12477932,11181995 199990 NM_182533,XM_001718861,AL590822,CH471183,AF461903,AF469129,AK055593,AK126870,AK127994,BC041041,BC066360,BC078145,BC103992,BU626113,CR601891 NP_872339,XP_001718913,CAI12479,CAO72138,EAW56125,EAW56126,EAW56127,EAW56128,EAW56129,AAQ04817,AAP97719,BAB70965,BAC86730,BAC87220,AAH66360,AAI03993,Q5SYT1,Q5SYT2,Q5SYT3,Q5SYT4,Q6NZ36,Q6ZRT9,Q7Z4P6 Hs.107101,Hs.709629 FLJ31031|FP7162|MGC120153|RP11-181G12.3 protein-coding 1602983 C1orf87 chromosome 1 open reading frame 87 12477932 127795 NM_152377,AC097066,CH471059,AK124828,AK126061,BC027878,BC042203 NP_689590,EAX06609,EAX06610,BAC86420,AAH27878,AAH42203,Q8N0U7 Hs.47385 FLJ44073|MGC34837 protein-coding 1604536 C1orf88 chromosome 1 open reading frame 88 12477932,8889549,8889548 128344 NM_181643,AL356387,CH471122,AA021608,AI198934,AK074433,BC029237,BC050319,BC068603,BC093891,BC101501,BU686257,CR609935,CR626500 NP_857594,CAI19259,CAI19260,EAW56489,BAB85081,AAH29237,AAH50319,AAH93891,AAI01502,Q8TCI5 Hs.172510 FLJ23853|MGC126550|RP5-1125M8.4 protein-coding 1603381 C1orf89 chromosome 1 open reading frame 89 16189514,12477932 79363 NM_030907,AL109627,CH471167,BC002946,BC008702,CR594894 NP_112169,CAI22562,EAW51773,AAH02946,AAH08702,Q9BU20 Hs.546430 MGC10731|RP4-733M16.4 protein-coding 1347236 C1orf9 chromosome 1 open reading frame 9 16344560,11158380,10673381 51430 AF310281,AF310282,AF310283,AF310284,AF310285,AF310286,AF310287,AF310288,AF310289,AF310290,AF310291,AF310292,AF310280,NM_014283,AF310265,AF310266,AF310267,AF310268,AF310269,AF310270,AF310271,AF310272,AF310273,AF310274,AF310275,AF310276,AF310293,AF310294,AF310295,AF310296,AF310297,AF310298,AF310299,AF310300,AF310301,AF310302,AF310303,AF310304,AF310305,AF310306,AF310307,AF310308,AF310309,AF310310,AF310311,AF310312,AF310277,NM_016227,AF310278,AF310279,AF310313,AF310314,AF310315,AF310316,AF310317,AF310318,AF310319,AF310320,AF310321,AF310322,AF310323,AF310324,AF310325,CH471067,Z94054,Z96050,AF097535,AJ250075,AL035291,CR603786,DB093941 AAK28757,AAK28758,AAK28759,AAK28760,AAK28761,AAK28762,AAK28763,AAK28764,AAK28765,AAK28766,AAK28767,AAK28768,NP_057311,NP_055098,AAK28742,AAK28743,AAK28744,AAK28745,AAK28746,AAK28747,AAK28748,AAK28749,AAK28750,AAK28751,AAK28752,AAK28753,AAK28769,AAK28770,AAK28771,AAK28772,AAK28773,AAK28774,AAK28775,AAK28776,AAK28777,AAK28778,AAK28779,AAK28780,AAK28781,AAK28782,AAK28783,AAK28784,AAK28785,AAK28786,AAK28787,AAK28788,AAK28789,AAK28754,AAK28755,AAK28756,Q5R3G4,Q9UBS9,AAK28790,AAK28791,AAK28792,AAK28793,AAK28794,AAK28795,AAK28796,AAK28797,AAK28798,AAK28799,AAK28800,AAK28801,AAK28802,EAW90929,EAW90930,EAW90931,EAW90932,EAW90933,EAW90934,CAI19033,CAI19034,AAF04619,CAB57360,CAA22894 Hs.204559 GDB:9957807 CH1 protein-coding 1606487 C1orf90 chromosome 1 open reading frame 90 16710414,15489334,12477932 84734 BG282224,BX091465,NM_032648,AL121991,CH471059,BC004269 Q9BTA0,NP_116037,CAI22319,EAX07547,EAX07548,AAH04269 Hs.18449 MGC10820 protein-coding 1606787 C1orf91 chromosome 1 open reading frame 91 12975309,12477932 56063 AL049795,CH471059,AF258548,AK075260,AL512700,AY358586,BC001256,BC004885,BC038842,NM_019118 NP_061991,CAI22059,CAI22060,CAM12880,EAX07556,EAX07557,EAX07558,EAX07559,EAX07560,AAG23751,BAC11504,AAQ88949,AAH01256,AAH04885,AAH38842,Q8WY98 Hs.272299 AASL548|FLJ90779|PRO1105|RP4-622L5|RP4-622L5.3|dJ622L5.7 protein-coding 1601719 C1orf92 chromosome 1 open reading frame 92 14702039,12477932,8889548 149499 NM_144702,AL356104,CH471121,AK057446,AK292342,BC033790,BU689904 NP_653303,CAH72938,EAW52895,EAW52896,EAW52897,EAW52898,BAB71490,BAF85031,AAH33790,Q8N4P6 Hs.491734 FLJ32884|FLJ77598|MGC45468|RP11-356J7.1 protein-coding 1603910 C1orf93 chromosome 1 open reading frame 93 14702039,12477932 127281 NM_152371,AL359575,CH471183,AF425266,AK057027,AK075273,AK094901,AK291908,BC022547,CR749706 NP_689584,EAW56083,EAW56084,EAW56085,EAW56086,EAW56087,EAW56088,AAP97295,BAC11511,BAF84597,AAH22547,Q5TA92,Q8TBF2 Hs.462033 DKFZp547M123|MGC26818|RP3-395M20.10 protein-coding 1602848 C1orf94 chromosome 1 open reading frame 94 16713569,16189514,14702039,12477932 84970 NM_032884,AC115286,CH471059,AK123355,BC007637,BC064845 NP_116273,EAX07445,EAX07446,AAH07637,AAH64845,Q6P1W5 Hs.194610 MGC15882 protein-coding 1605215 C1orf95 chromosome 1 open reading frame 95 16710414,16381901,15489336,11230166,11076863,9110174,8619474 375057 NM_001003665,AL357122,AL359704,AF035308,AL137507 NP_001003665,CAH70212,CAH10697,Q69YW2,CAL38625,AAI41660 Hs.116827,Hs.592751 DKFZp761P211|RP11-9C4.1 protein-coding 1602440 C1orf96 chromosome 1 open reading frame 96 14702039,12477932 126731 NM_145257,AL117350,CH471098,AK094615,AK123465,AK291437,BC015419,BC039241,BC060777,BC071609 NP_660300,CAI22868,CAI22869,EAW69897,BAC85619,BAF84126,AAH15419,AAH39241,AAH60777,AAH71609,Q6IQ19 Hs.585011 FLJ37296|FLJ41471|RP4-803J11.3 protein-coding 1606485 C1orf97 chromosome 1 open reading frame 97 16710414,15489334,15342556,12477932 84791 NM_032705,AL590101,CH471100,AK130857,AK130858,BC005997,BP197632,BX382054,CR599004 NP_116094,EAW93415,EAW93416,AAH05997,Q9BRT7 Hs.523932 FLJ27347|FLJ27348|MGC14801|RP11-318L16.3 protein-coding 1602788 C1orf98 chromosome 1 open reading frame 98 12477932 554279 BC040731 Hs.434694 protein-coding 1353499 C2 complement component 2 Component C2 is part of the classical pathway of complement system. Activated C1 cleaves C2 into C2a and C2b. C2a leads to activation of C3. Deficiency of C2 has been reported to associated with certain autoimmune diseases. 1600582,1580863 162484,8621452,6019133,12878586,15199963,18174230,18069935,17576744,17482263,16670774,16518403,16335952,15489334,14702039,12823772,12477932,11222683,10946292,10946278,10734221,10072631,9670930,9453398,9373149,8326124,8299689,8175701,8125298,8120386,6922702,6555044,6199794,6149575,3643061,3546307,3315100,2997031,2949737,2582254,2493504,2091785,1701385,1577763,1531292,1350302,1084023 1600582 717 CR388219,CR759782,CR933857,L09708,M15082,M15549,M86920,X77331,AK096258,AK222537,AK222783,BC029781,BC043484,BX537504,CR620914,M26301,X04481,CH471081,NM_000063,NG_004658,NG_005163,NG_000013,AF019413,AL645922,AL662849,AL844853,AY074705,AY349611,BA000025,BX005143 EAX03548,EAX03549,CAQ07481,CAQ07111,CAQ06833,AAB97607,AAA59624,AAA59649,AAA51854,CAA54545,BAD96257,BAD96503,AAH29781,AAH43484,CAD97767,AAA35614,CAA28169,P06681,Q4VX08,Q53GZ8,Q53HP3,Q5JP69,Q5ST52,Q5ST54,Q5ST56,Q5ST58,Q6LBG4,Q6LDG4,Q7Z685,Q86SV5,Q8N6L6,Q95IG1,NP_000054,AAB67975,CAQ09272,CAQ09273,CAI17449,CAI17451,CAI41857,CAI41858,AAM10002,AAQ15273,BAB63292,CAM25860 Hs.408903 GDB:119731 CO2|DKFZp779M0311 protein-coding 1350426 C20orf10 chromosome 20 open reading frame 10 10719363,15489334,12477932,11780052 27296 NM_014477,AL021578,CH471077,AB017802,BC036785 NP_055292,CAC18107,EAW75858,EAW75859,BAA76405,AAH36785,Q9Y2B4 Hs.401982 GDB:11504933 CLG01|TP53TG5 protein-coding 1315920 C20orf103 chromosome 20 open reading frame 103 15489334,12477932,11780052 24141 NM_012261,AL031652,CH471133,CS185536,AL121740,BC050727,BG707942,BI602543,CR612846 NP_036393,CAC18101,EAX10361,EAX10362,CAJ42717,CAB57330,AAH50727,Q9UJQ1 Hs.22920 GDB:11505054 protein-coding 1317211 C20orf106 chromosome 20 open reading frame 106 15489334,12477932,11780052 200232 AL109806,AL833715,BC029411,BC070179,BC107704,NM_001012971,CR624258 NP_001012989,CAI19289,AAH29411,AAI07705,Q5JX71 Hs.504907 MGC104272|dJ1153D9.3 protein-coding 1342812 C20orf107 chromosome 20 open reading frame 107 15489334,12509440,12477932,11780052 388799 BC105792,CR593795,NM_001013646,AL109806,CH471077,BC014951 AAI05793,Q5JX69,NP_001013668,CAI19291,EAW75534,EAW75535 Hs.287759 MGC104273|dJ1153D9.4 protein-coding 1322807 C20orf108 chromosome 20 open reading frame 108 16303743,15489334,12477932,11780052,8228263 116151 NM_080821,AL121914,CH471077,CS051463,AJ311123,AK075565,AL133555,BC017725,DB500825,L17329 NP_543011,CAC12716,CAC29249,EAW75563,EAW75564,EAW75565,CAI72223,CAC67490,BAC11704,AAH17725,Q96KR6 Hs.143736,Hs.593629 GDB:11505062 5A3|DKFZP434A1114|dJ1167H4.1 protein-coding 1349741 C20orf109 chromosome 20 open reading frame 109 140829 AL118499 CAC00663,Q9NQG0 GDB:11505064 dJ1168M15.1 protein-coding 1346039 C20orf11 chromosome 20 open reading frame 11 11780052,17353931,15489334,14702039,12559565,12477932,12107413 54994 NM_017896,AL117379,AL121673,CH471077,AK000609,AK025775,BC031819,BC032120,BQ931571,BQ935273,CD676269 NP_060366,CAC08553,EAW75318,EAW75319,BAA91285,AAH32120,Q9NWU2 Hs.353013 GDB:11504935 TWA1 protein-coding 1350756 C20orf111 chromosome 20 open reading frame 111 17148688,15489334,14702039,12477932,11780052,11042152 51526 NM_016470,AL035447,CH471077,AF151041,AF161517,AF217514,AK000476,AL133000,BC064973,CR594780,CR606150,CR613090,CR615347,CR616484,CR626237 NP_057554,CAB38780,EAW75938,EAW75939,AAF36127,AAF29132,AAF67625,BAA91191,CAB61348,AAH64973,Q9NX31 Hs.75798 GDB:11505068 HSPC207|Perit1|dJ1183I21.1 protein-coding 1348785 C20orf112 chromosome 20 open reading frame 112 15489334,15302935,14702039,12477932,11780052 140688 NM_080616,AL034550,AL133343,CH471077,AK056286,AK097804,AL122043,AL834520,BC038088,BC065370,CR621375 NP_542183,CAI42260,CAI42261,CAI42262,CAI42263,CAI42264,CAI42265,CAH73559,EAW76367,EAW76368,EAW76369,EAW76370,EAW76371,EAW76372,EAW76373,BAB71138,AAH65370,Q5JYB6,Q5JYC0,Q5JYC1,Q5JYC2,Q5W149,Q96MY1 Hs.516978 GDB:11505070 DKFZP566G1424|dJ1184F4.2 protein-coding 1346750 C20orf113 chromosome 20 open reading frame 113 170486 AL034550 GDB:11505072 1343435 C20orf114 chromosome 20 open reading frame 114 The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. 15489334,14702039,12975309,12874788,12477932,11971875,11780052 92747 NM_033197,AL121901,AL355392,CH471077,AF364078,AK127971,AK290243,AW449208,AY358595,BC008429,CD696225 NP_149974,CAI14743,CAI19398,EAW76326,AAM00283,BAC87212,BAF82932,AAQ88958,AAH08429,Q8TDL5 Hs.65551 GDB:11505074 LPLUNC1|MGC14597 protein-coding 1350495 C20orf115 chromosome 20 open reading frame 115 402016 XM_377675 GDB:11505076 1320614 C20orf116 chromosome 20 open reading frame 116 17353931,15489334,12477932,11780052 65992 NM_023935,AL121891,CH471133,BC000643,BC007957,BC011851,CR625227 NP_076424,CAD55939,CAD55940,EAX10543,EAX10544,AAH00643,AAH07957,AAH11851,Q96HY6 Hs.471975 GDB:11505078 MGC2592|dJ1187M17.3 protein-coding 1352015 C20orf117 chromosome 20 open reading frame 117 15489334,15302935,14702039,14676191,12477932,11780052,10737800,10048485 140710 BM464536,BQ027014,NM_199181,AL079335,AL132768,AL391602,CH471077,AB020696,AK022023,AK057056,AK094762,AK126630,AK131491,AL833153,AL935080,AW450158,BC113405,BC113433,BF944938 O94964,Q5T2J2,Q6ZTG8,AAI48415,NP_954650,CAI42289,CAI21460,EAW76094,EAW76095,EAW76096,EAW76097,EAW76098,EAW76099,EAW76100,BAA74912,BAB13954,BAC86621,AAI13406,AAI13434 Hs.460807 GDB:11505080 FLJ44670|KIAA0889|dJ132F21.1 protein-coding 1348581 C20orf118 chromosome 20 open reading frame 118 140711 NM_080628,AL079335,CH471077,AK123544,BC127688,BC130646,BC130648 NP_542195,CAI42292,CAM27762,EAW76092,EAW76093,AAI27689,AAI30647,AAI30649,A0PJX2,Q9H125 Hs.472630 GDB:11505082 dJ132F21.2 protein-coding 1322749 C20orf12 chromosome 20 open reading frame 12 This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. Alternative splicing has been observed for this gene but the full-length nature of additional variants has not been determined. 16713569,14702039,12477932,11780052,10431175 55184 NM_001099407,AL049646,AL121893,AL158176,CH471133,AK001462,AK026306,AK055544,AK131451,BC036231,BC130341,CR749327,DC323828,DQ104738 NP_001092877,CAI21830,CAI21831,CAI12510,CAI12511,EAX10242,EAX10243,EAX10244,EAX10245,EAX10246,BAA91706,BAB70949,BAD18596,AAH36231,AAI30342,CAH18182,AAZ13595,Q8IYA4,Q9NVP4 Hs.472225 GDB:11504937 C20orf84|DKFZp781J2425|FLJ10600|FLJ30892|bA189K21.1|bA189K21.8|dJ568F9.2 protein-coding 1344332 C20orf120 chromosome 20 open reading frame 120 140846 AL121753 GDB:11505084 1313976 C20orf121 chromosome 20 open reading frame 121 15489334,14702039,12477932,11780052 79183 NM_024331,NM_001039199,AL132772,CH471077,Z97053,AK056178,AK125126,BC003071,CR936621 NP_077307,NP_001034288,CAI18860,CAI18861,CAO03334,EAW75918,EAW75919,CAI19685,CAI19686,CAO03543,AAH03071,CAI56764,Q5CZA1,Q5QPC3,Q9BTX7 Hs.283869 GDB:11505086 DKFZp686E0870|MGC2470 protein-coding 1352743 C20orf123 chromosome 20 open reading frame 123 128506 XM_496476,XM_001722538,XM_938433,AL034424 XP_496476,XP_001722590,XP_943526,CAC36102,Q9BR26 Hs.526636 GDB:11505090 dJ257E24.3 protein-coding 1343891 C20orf131 chromosome 20 open reading frame 131 140698 AL136172 GDB:11505106 1352113 C20orf132 chromosome 20 open reading frame 132 16381901,15635413,15489336,14702039,12477932,11780052,11256614,11076863 140699 NM_152503,NM_213632,NM_213631,AL031659,AL136172,AK093432,AL833864,BC030006,BC057767,BU783865,BX098572 NP_689716,NP_998797,NP_998796,CAI42662,CAI42663,CAI42665,CAI42666,CAI95714,CAI95715,CAI95718,CAI95719,CAI95720,BAC04162,CAD38722,AAH30006,AAH57767,Q0JUW4,Q0JVR0,Q0P682,Q4VXK3,Q5JYQ7,Q5JYQ9,Q5JYR0,Q6PF12,Q9H579,CAL37400,CAL37697 Hs.349125 GDB:11505108 DKFZp434N0426|FLJ36113|dJ621N11.4 protein-coding 1346529 C20orf134 chromosome 20 open reading frame 134 11780052 170487 NM_001024675,AL121906,CH471077 NP_001019846,CAI22126,EAW76309,Q5JWF8 Hs.592151 GDB:11505112 dJ63M2.2 protein-coding 1320221 C20orf135 chromosome 20 open reading frame 135 15489334,12477932,11780052,8889548 140701 NM_080622,AL118506,CH471077,AW772131,BC031949,BM700775 NP_542189,CAC15491,EAW75203,Q96F95,Q9H3Z7,AAI66655 Hs.266774,Hs.675171 GDB:11505114 MGC42974|dJ591C20.1 protein-coding 1347173 C20orf141 chromosome 20 open reading frame 141 15489334,12477932,11780052 128653 NM_080739,AL035460,CH471133,AK126033,AK129653,AL713708,BC014591,BC021178 NP_542777,CAB82247,CAI23039,EAX10574,BAC86404,BAC85208,CAD28505,AAH14591,AAH21178,Q5JY54,Q6ZPB1,Q6ZU23,Q8WW34,Q9NUB4 Hs.352187,Hs.664180 GDB:11505126 MGC26144|dJ860F19.4 protein-coding 1317034 C20orf142 chromosome 20 open reading frame 142 FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM] 18160536,15489334,12477932,11780052 128486 NM_001080472,AL117382,CH471077,BC029662,BC130446 NP_001073941,CAI23111,EAW75929,AAI30447,Q8N6M3 Hs.632269 GDB:11505128 Fit2|MGC30135|dJ881L22.2 protein-coding 1348206 C20orf144 chromosome 20 open reading frame 144 15489334,12477932,11780052 128864 NM_080825,AL121906,CH471077,BC032818,CR617586,DQ080434 NP_543015,CAC34270,EAW76310,AAH32818,AAZ39562,Q1AHR2,Q9BQM9 Hs.324104 GDB:11505132 dJ63M2.6 protein-coding 1321693 C20orf149 chromosome 20 open reading frame 149 15489334,12477932,11780052 79144 NM_024299,AL121829,CH471077,AK024699,BC002531,BC056416,CR594162,CR608021 NP_077275,CAC15523,CAC15524,CAI95747,EAW75264,EAW75265,AAH02531,AAH56416,Q9H3Y8 Hs.79625 GDB:11505142 FLJ21046|MGC2479|dJ697K14.9 protein-coding 1353930 C20orf151 chromosome 20 open reading frame 151 15489334,14702039,12477932,11780052 140893 NM_080833,AL121832,CH471077,CQ782881,AK074919,AK128718,AK290299,BC006450,BC033142,BC137326,BC137327 NP_543023,CAI23285,EAW75362,EAW75363,CAF86109,BAC11293,BAC87589,BAF82988,AAH06450,AAH33142,AAI37327,AAI37328,Q6ZQU4,Q8NC74 Hs.180374 GDB:11505146 dJ908M14.3 protein-coding 1323261 C20orf152 chromosome 20 open reading frame 152 14702039,12477932,11780052 140894 AL109965,AL359828,CH471077,AK057454,BC030782,BC057288,BC114634,BC114945,NM_080834 NP_543024,CAI19248,CAI19249,EAW76148,EAW76149,BAB71494,AAH30782,AAI14635,AAI14946,Q14C79,Q14C90,Q4G141,Q5T3S2,Q96M20 Hs.517008 GDB:11505148 MGC138880|dJ954P9.1 protein-coding 1345661 C20orf153 chromosome 20 open reading frame 153 170489 AL356755 GDB:11505150 1349686 C20orf157 chromosome 20 open reading frame 157 140896 AL031686 CAB42849,Q6KAL7 GDB:11505156 dJ981L23.3 protein-coding 1347805 C20orf158 chromosome 20 open reading frame 158 85362 NM_152302 GDB:11505158 1344242 C20orf159 chromosome 20 open reading frame 159 140705 AL031658 CAB88102 GDB:11505160 dJ310O13.4 protein-coding 1344204 C20orf160 chromosome 20 open reading frame 160 16344560,15489334,14702039,12477932,11780052 140706 NM_080625,AL031658,CH471077,AK057090,AK125588,BC019892,BC030254,BC032455,CA406781,DA936380,DB331650 NP_542192,CAI42581,CAI42582,EAW76395,EAW76396,EAW76397,BAB71363,AAH30254,AAH32455,Q5JYR8,Q9NUG4 Hs.382151,Hs.638682 GDB:11505162 FLJ43600|dJ310O13.5 protein-coding 1351206 C20orf165 chromosome 20 open reading frame 165 15489334,12477932,11780052 128497 NM_080608,AL008726,CH471077,BC039607 NP_542175,CAC36017,EAW75791,AAH39607,Q9BR10 Hs.128235 GDB:11505172 dJ337O18.8 protein-coding 1349021 C20orf166 chromosome 20 open reading frame 166 15489334,14702039,12477932,11780052 128826 NM_178463,AL449263,CH471077,AK056985,BC110595 NP_848558,CAC18681,CAI95682,EAW75355,AAI10596,Q9H1L0 Hs.86507 GDB:11505174 FLJ32423|MGC129808|dJ353C17.1 protein-coding 1343963 C20orf168 chromosome 20 open reading frame 168 140863 AL050348 CAC36104,Q9BQP5 GDB:11505178 dJ447F3.6 protein-coding 1351674 C20orf173 chromosome 20 open reading frame 173 140873 NM_080828,AL121586 GDB:11505188 1313101 C20orf175 chromosome 20 open reading frame 175 15197164,15146197,14702039,12107410,11780052 140876 NM_080829,AL133230,CH471077,AI056877,AK056792,AK090440,AL732057,CA389799,CF272670,CN268262,DT932687 NP_543019,CAI21688,EAW75618,EAW75619,EAW75620,EAW75621,EAW75622,BAB71286,BAC03421,Q8NF41,Q96MK2,AAI60013 Hs.372578 GDB:11505192 FAM65C|FLJ00360|FLJ32230|dJ530I15.2 protein-coding 1345172 C20orf176 chromosome 20 open reading frame 176 140879 AL133230 CAC00619,Q9NQQ3 GDB:11505194 dJ530I15.3 protein-coding 1323673 C20orf177 chromosome 20 open reading frame 177 15489334,12477932,11780052 63939 NM_022106,AL109928,CH471077,AK125073,AL137442,BC020771,BC054002 NP_071389,CAB92095,EAW75424,CAB70739,AAH20771,AAH54002,Q05CU2,Q9NTX9 Hs.504920 GDB:11505196 dJ551D2.5 protein-coding 1348127 C20orf181 chromosome 20 open reading frame 181 140843 AL158091,U63828 CAC17643,Q92884,Q9H1S0,AAB06956 Hs.555583 GDB:11505204 dJ824A14.1 protein-coding 1604466 C20orf185 chromosome 20 open reading frame 185 17353931,11971875,12837268,12477932,11780052 359710 AF549189,BC113398,BC113400,NM_182658,AL121756,CH471077 EAW76338,AAP84989,AAI13399,AAI13401,P59826,Q14DE0,NP_872599,CAI22531 Hs.472442 GDB:11505210 LPLUNC3|RYA3|dJ726C3.4 protein-coding 1344811 C20orf186 chromosome 20 open reading frame 186 12837268,11971875,11780052 149954 NM_182519,AL121756,CH471077,AF549190 NP_872325,CAI22532,EAW76336,EAW76337,AAP84990,P59827,AAI40294,AAI46506 Hs.38961 GDB:11505212 LPLUNC4|RY2G5|dJ726C3.5 protein-coding 1343604 C20orf187 chromosome 20 open reading frame 187 11780052,11181995 728434 BX281604,XM_001131465,XM_001133128,AL050322,CH471133 Q9UGB4,XP_001131465,XP_001133128,CAB65795,EAX10337 Hs.570365 GDB:11505214 dJ727I10.1 protein-coding 1350199 C20orf189 chromosome 20 open reading frame 189 140871 NG_002787,AL078587 GDB:11505218 dJ760C5.1 pseudo 1316045 C20orf19 chromosome 20 open reading frame 19 12477932 55857 CR616364,NM_018474,AL110120,AL117332,AL121759,CH471133,AF220187,AF451990,AK025476,AL110196,BC013055,BC039296,BC045826,BC065550,BC090879,BC105093,BC113370 Q2M2Z5,NP_060944,EAX10188,EAX10189,EAX10190,EAX10191,EAX10192,EAX10193,AAF67652,AAP97689,CAH10726,AAH39296,AAH45826,Q5TDW8,Q5TDW9,Q5TDX0,Q5TDX1,Q69YZ6,AAH65550,AAH90879,AAI05094,AAI13371 Hs.187635 GDB:11504947 DKFZP586H021|HT013|MGC102941|MGC141930 protein-coding 1348152 C20orf191 chromosome 20 open reading frame 191 12477932,11780052 149934 NR_003678,AL391119,BC132806,BC132808,EH318080 AAI32807,AAI32809 Hs.307117 GDB:11505322 bB329D4.2 pseudo 1349038 C20orf194 chromosome 20 open reading frame 194 15489334,15146197,14702039,12477932,11780052,11549316 25943 NM_001009984,AL109976,AL117334,AK023919,AK226100,AL110249,AU311821,BC041916,BC064352,BC080528,BC106086,BC122529,BX424937,CN285135,CR626597 NP_001009984,CAI22834,CAB53697,AAH64352,AAH80528,AAI06087,AAI22530,Q0IIP3,Q3KQR5,Q5TEA3 Hs.516853 DKFZp434N061|MGC117480|MGC141683 protein-coding 1601971 C20orf195 chromosome 20 open reading frame 195 16189514,15489334,12477932,11780052 79025 NM_024059,AL121829,CH471077,AK125168,BC000912 NP_076964,CAI95748,EAW75258,AAH00912,Q9BVV2 Hs.197755 MGC5356 protein-coding 1606148 C20orf196 chromosome 20 open reading frame 196 12477932 149840 AL035249,AL390028,CH471133,AK057796,AK292708,BC035800,NM_152504 NP_689717,CAI19011,CAI19013,CAI19014,CAI22784,CAI22786,EAX10411,EAX10412,BAB71578,BAF85397,AAH35800,Q5TGA6,Q5TGB0,Q8IYI0 Hs.529340 FLJ25067|RP4-784N16.1 protein-coding 1606918 C20orf197 chromosome 20 open reading frame 197 15489334,14702039,12975309,12477932,11780052 284756 AL132822,NM_173644,CH471077,AK091179,AY358539,BC101349,BC101350,BC101351 NP_775915,CAI18869,EAW75416,BAC03602,AAQ88903,AAI01350,AAI01351,AAI01352,Q6UX30,Q8N268 Hs.335319 FLJ33860|MGC120496|RP5-1017F8.1 protein-coding 1603447 C20orf199 chromosome 20 open reading frame 199 12477932 441951 XM_933945,XM_933944,XM_929750,XM_945311,XM_945309,XM_941620,NR_003604,NR_003605,NR_003606,AL049766,AK124175,AY339614,AY513722,AY513723,BC032480,BC042807,BC060315,BC062222,BC062447,BC105282,BM706184,BM745942,CB137861 XP_939038,XP_934843,XP_950404,XP_950402,XP_946713,XP_939037 Hs.356766 HSUP1|HSUP2 miscrna 1318486 C20orf20 chromosome 20 open reading frame 20 15647280,15489334,14702039,12963728,12477932,11780052 55257 NM_018270,AL035669,CH471077,AB085682,AK001776,BC009889,BC014235,BC018841 NP_060740,CAC12748,EAW75342,EAW75343,BAF80630,BAA91902,AAH09889,AAH14235,AAH18841,Q9NV56 Hs.590870 GDB:11504949 Eaf7|FLJ10914|MRG15BP|MRGBP|URCC4 protein-coding 1602964 C20orf200 chromosome 20 open reading frame 200 14702039,12477932 253868 NM_152757,AL449263,CH471077,AK054875,AK056546,BC093856,BC111938 NP_689970,EAW75356,EAW75357,EAW75358,EAW75359,BAB70817,AAH93856,AAI11939,Q96NR2 Hs.337024 FLJ30313|MGC138143 protein-coding 1317125 C20orf24 chromosome 20 open reading frame 24 17353931,15489334,15178406,14759258,12477932,11780052,8824393 55969 NM_018840,NM_199483,AL050318,CH471077,AF112213,AF274936,AF274948,BC001871,BC004446,BI223439,BQ086248,BU174619,BU194101,BU848918,CR597224,CR609489,CR611434,CR616996,CR618600,CR624571,S83364 Q5QPG6,Q5QPG7,Q9BUV8,Q9BZT8,NP_061328,NP_955777,CAB75367,CAI23511,CAI23512,EAW76120,EAW76121,EAW76122,EAW76123,EAW76124,EAW76125,AAF17201,AAK07515,AAK07525,AAH01871,AAH04446,AAB50849,Q5QPG5 Hs.584985 GDB:11504957 PNAS-11|RIP5 protein-coding 1323021 C20orf26 chromosome 20 open reading frame 26 15489334,14702039,12477932,11780052 26074 NM_015585,AL035454,AL049648,AL121721,AL158849,AL161658,CH471133,AK057364,AL117439,BC015959,BC028708,BC031674 NP_056400,CAI42114,CAI42115,CAI42116,CAI42117,CAI42249,CAI42250,CAI42251,CAI42252,CAI42253,CAI42254,CAI40813,EAX10202,EAX10203,EAX10204,BAB71452,CAB55925,AAH28708,AAH31674,Q5JXV0,Q5JXV2,Q5JXV5,Q5JXV6,Q5TE16,Q5TE17,Q8NHU2 Hs.176013 GDB:11504959 DKFZP434K156|dJ1178H5.4 protein-coding 1323352 C20orf27 chromosome 20 open reading frame 27 15489334,14702039,12665801,12477932,11780052,9373149,8125298,16189514 54976 AL109804,AK000557,AK024220,AK097645,AK124341,AK125202,AK225109,AK290955,BC010873,BC012196,BC024036,BC069204,BF978883,NM_001039140,CR591203,CR592157,CR596792,CR597067,CR597474,CR598944,CR599225,CR606948,CR614642,CR614738,CR615129,CR616702,CR620256,CR623724,CR626675 Q5JX80,Q5JX81,Q6ZUY3,Q6ZVM4,Q9GZN8,NP_001034229,CAC17545,CAI18842,CAI18843,BAA91252,BAB14854,BAC85837,BAC86083,BAF83644,AAH12196,AAH24036,Q5JX79 Hs.274422 GDB:11504961 FLJ20550 protein-coding 1345016 C20orf29 chromosome 20 open reading frame 29 14702039,12477932,11780052,15489334 55317 AL109804,CH471133,CS300639,AK002030,AK093332,BC011985,BC043344,CR610495,NM_018347 NP_060817,CAC17552,CAI18850,CAM26956,EAX10483,EAX10484,EAX10485,EAX10486,CAK32303,BAA92045,AAH43344,Q0P6H2,Q5JX74,Q9NUS5 Hs.104806 GDB:11504965 FLJ11168 protein-coding 1318897 C20orf3 chromosome 20 open reading frame 3 16335952,15489334,14702039,12975309,12754519,12477932,11780052,10945474,8889548 57136 AB033767,AK025834,AK026866,AK291129,AY359076,BC003501,BG773501,CF131759,CR592912,CR599249,CR608030,CR608277,NM_020531,AL035661,CH471133 BAB11885,BAB15253,BAB15578,BAF83818,AAQ89435,AAH03501,EAX10114,Q9HDC9,NP_065392,CAB75499,EAX10113 Hs.472330 GDB:11504796 APMAP|BSCv protein-coding 1316576 C20orf30 chromosome 20 open reading frame 30 15489334,14702039,12975309,12477932,11780052 29058 BC070212,BC110408,CR595596,CR600911,CR601451,CR601625,CR602290,CR605463,CR609706,CR616608,CR617961,CR619633,CR624348,NM_014145,NM_001009924,NM_001009925,NM_001009923,AL121890,AL121924,CH471133,AF161392,AK055700,AL357536,AY359115,BC009768,BC009769,BC009770,BC011990,BC015113,BC066317 AAH70212,AAI10409,Q5TDS4,Q96A57,NP_054864,NP_001009924,NP_001009925,NP_001009923,CAI22627,CAI22629,CAI22630,EAX10431,EAX10432,EAX10433,EAX10434,EAX10435,EAX10436,EAX10437,AAF28952,AAQ89473,AAH09768,AAH09769,AAH09770,AAH11990,AAH15113 Hs.472024 GDB:11504967 HSPC274|dJ1116H23.2.1 protein-coding 1321842 C20orf39 chromosome 20 open reading frame 39 15489334,14702039,12477932,11780052 79953 NM_024893,AL034426,AL049594,AL157413,CH471133,AK024282,BC030637,CR457325 NP_079169,EAX10117,BAB14872,AAH30637,CAG33606,Q9H7V2 Hs.124638 GDB:11504983 FLJ14220 protein-coding 1322325 C20orf4 chromosome 20 open reading frame 4 16189514,15489334,12665801,12477932,11780052,11230166,10810093 25980 NM_015511,AL121895,CH471077,AF113672,AF132957,AL117419,BC001751,BC019311,CR590998,CR594170,CR610727 NP_056326,CAC09921,EAW76141,EAW76142,EAW76143,AAF29578,AAD27732,CAB55913,AAH01751,AAH19311,Q9Y312 Hs.11314 GDB:11504985 CGI-23|DKFZp564N1363|bA234K24.2 protein-coding 1322335 C20orf43 chromosome 20 open reading frame 43 15635413,15489334,14702039,12477932,11780052,11042152,10931946,9373149,8125298 51507 NM_016407,AL109806,AF117231,AF161513,AF161518,AF212244,AK000481,AK000586,AK026118,AK225135,AY320413,BC001536,BC002769,BC003359,CR593145,CR594888,CR595627,CR596403,CR597647,CR598036,CR599404,CR600257,CR602341,CR602978,CR603326,CR604845,CR606373,CR607518,CR608256,CR609541,CR610437,CR617366,CR620166,CR621742,CR625569 NP_057491,CAC03740,AAF17212,AAF29128,AAF29133,AAK14929,BAA91193,AAP73812,AAH02769,AAH03359,Q7Z5Z1,Q9BY42 Hs.517134 GDB:11504991 CDAO5|HSPC164|SHUJUN-3 protein-coding 1354046 C20orf46 chromosome 20 open reading frame 46 14702039,11780052 55321 NM_018354,AL031665,CH471133,AK002052 NP_060824,CAC16505,CAI21758,EAX10647,EAX10648,BAA92058,Q5QPM3,Q9NUR3,AAI56782 Hs.516834 GDB:11504997 FLJ11190 protein-coding 1351750 C20orf51 chromosome 20 open reading frame 51 12477932,11780052,11181995 100144596 AL121673,CH471077,AL117533,BC069708,BC134343 CAC08556,EAW75309,EAW75310,AAI34344,Q9H493 GDB:11505222 DKFZp434E222|MGC133148|bA305P22.4 miscrna 1349152 C20orf52 chromosome 20 open reading frame 52 18313394,17537404,16842742,15489334,15342556,12477932,11780052 140823 NM_080748,AL357374,CH471077,AK000548,AM397244,AM397245,AM397246,BC008488,BC105281,BM353595 NP_542786,CAC11117,CAI13604,EAW76168,EAW76169,CAL37002,CAL37003,CAL37004,AAH08488,AAI05282,P60602 Hs.472564 GDB:11505224 MGC111180|MTGMP|ROMO1|bA353C18.2 protein-coding 1349883 C20orf53 chromosome 20 open reading frame 53 140826 AL357374 GDB:11505226 1312203 C20orf54 chromosome 20 open reading frame 54 14702039,12477932,11780052,16344560,16303743,15489334 113278 NM_033409,AL118502,CH471133,AI244952,AK074650,AK291706,BC009750,DA302552,DA358731 NP_212134,CAH73077,CAH73078,EAX10657,EAX10658,EAX10659,BAC11113,BAF84395,AAH09750,Q9NQ40 Hs.283865 GDB:11505228 MGC10698|bA371L19.1 protein-coding 1350933 C20orf56 chromosome 20 open reading frame 56 140828 NR_001558,AL121722,AL356742 GDB:11505232 bA216C10.1|dJ788L20.2 miscrna 1348541 C20orf57 chromosome 20 open reading frame 57 83747 AK000652,AL160175 CAI12818,Q5QP66 Hs.434108 GDB:11505234 FLJ20645|bA243J16.5 protein-coding 1323655 C20orf59 chromosome 20 open reading frame 59 16344560,15489334,14702039,12693554,12477932,11780052 63910 AL121673,CH471077,AK027065,AK074107,AK095473,AK125597,BC025312,BC027447,BC038593,DB153870,NM_022082 CAC28600,CAH72268,CAH72269,EAW75313,EAW75314,EAW75315,EAW75316,EAW75317,BAB15644,BAB84933,AAH25312,AAH27447,Q9BYT1,Q9H5I2,NP_071365 Hs.512686 GDB:11505238 FLJ23412|SLC17A9 protein-coding 1351532 C20orf61 chromosome 20 open reading frame 61 140833 AL080274 CAB88097,Q9NU29 GDB:11505242 dJ1012F16.1 protein-coding 1348821 C20orf62 chromosome 20 open reading frame 62 140834 GDB:11505244 1347902 C20orf66 chromosome 20 open reading frame 66 343629 XM_001716673,XM_293121,XM_001723936,AL121919,AL136532,CH471077 XP_001716725,XP_293121,XP_001723988,EAW75440 GDB:11505252 bA379F14.2 protein-coding 1348588 C20orf68 chromosome 20 open reading frame 68 140848 GDB:11505256 1348961 C20orf69 chromosome 20 open reading frame 69 12477932 140849 BC122537,AL137028,BC118988 AAI22538,CAC28313,AAI18989,Q0VF47,Q9BZ41 Hs.473317 GDB:11505258 bA476I15.3 protein-coding 1603963 C20orf7 chromosome 20 open reading frame 7 14702039,12477932 79133 NM_001039375,NM_024120,AL109657,AL161659,CH471133,AA252680,AK025977,AK091060,AK289781,BC005984,BC073158,BM993545,CB156360,CR596921,CR616637 NP_001034464,NP_077025,CAI15136,CAI15137,EAX10311,BAB15305,BAF82470,AAH05984,AAH73158,Q5TEU4 Hs.472165 GDB:11505005 FLJ22324|MGC90272|bA526K24.2|dJ842G6.1 protein-coding 1351299 C20orf70 chromosome 20 open reading frame 70 16740002,15489334,12975309,12477932,11971875,11780052 140683 AK130543,AK130550,AK291854,AY359055,BC065726,NM_080574,AL121901,CH471077,AF432917 BAC85378,BAF84543,AAQ89414,AAH65726,Q6ZNV9,Q96DR5,NP_542141,CAC03546,EAW76335,AAL28113 Hs.125960 GDB:11505260 SPLUNC2|bA49G10.1 protein-coding 1347929 C20orf71 chromosome 20 open reading frame 71 12477932,11971875,11780052 128861 NM_178466,NM_001042439,AL121901,CH471077,AI073399,AW082233,BC041904,BC066354,BF966133,DB446335 NP_848561,NP_001035904,CAI14741,CAI14742,EAW76330,EAW76331,EAW76332,EAW76333,AAH41904,AAH66354,Q49A93,Q9BQP9 Hs.360989 GDB:11505262 MGC44525|SPLUNC3 protein-coding 1316675 C20orf72 chromosome 20 open reading frame 72 16189514,15489334,14702039,12477932,11780052 92667 NM_052865,AL121585,CH471133,AF306684,AF306685,AF306686,AK027503,BC016869 NP_443097,CAC35072,CAI14860,CAI14861,EAX10260,EAX10261,EAX10262,BAB55160,AAH16869,Q9BQP7 Hs.320823 GDB:11505264 FLJ14597|bA504H3.4 protein-coding 1343955 C20orf74 chromosome 20 open reading frame 74 16490346,14702039,12477932,10574462 57186 AL078634,AL121896,AL157718,AL161658,AB033098,AK002211,AK022881,AK127228,BC013749,NM_020343,BE467241,DQ310704 NP_065076,CAI95625,CAI95626,CAI95627,CAI95628,CAC27348,CAI39939,CAI39940,CAI40814,CAI40815,BAA86586,BAB14290,AAH13749,ABC33805,Q2PPJ7,Q4VXU5 Hs.472285 GDB:11505268 AS250|FLJ12819|KIAA1272|RP11-470C13.2|bA287B20.1|dJ1049G11|dJ1049G11.4 protein-coding 1312424 C20orf77 chromosome 20 open reading frame 77 16189514,15489334,15342556,15302935,14702039,12477932,11780052 58490 NM_021215,AL109823,CH471077,AK092567,AK126484,AL080224,AL117521,BC001696,BC020939,BC033629,BP359144,DQ372938 NP_067038,CAC01532,CAM27269,EAW76045,EAW76046,CAH10720,AAH01696,AAH33629,ABD34791,Q1WDE7,Q69YY7,Q6PKF4,Q9NQG5 Hs.278839 GDB:11505272 CREPT|DKFZp434P0735|FLJ44520|dJ1057B20.2 protein-coding 1347015 C20orf78 chromosome 20 open reading frame 78 11780052 128763 AL035563 CAC36049,Q9BR46 GDB:11505274 dJ1068E13.1 protein-coding 1318122 C20orf79 chromosome 20 open reading frame 79 15489334,12477932,11780052 140856 NM_178483,AL035563,CH471133,AF418568,AF418570,AK130970,AY248902,BC105121,BC112024 NP_848578,CAB56175,EAX10224,AAP97287,AAP97289,AAP20053,AAI05122,AAI12025,Q6X959,Q9UJQ7 Hs.112794 GDB:11505276 HSD22|MGC138229|dJ1068E13.2 protein-coding 1343671 C20orf80 chromosome 20 open reading frame 80 14702039 91222 Q96ND1,Q9BZ00,Q9BZ01 AK055615,AL441988 BAB70972,CAC27358,Q96ND1,Q9BZ00,Q9BZ01 Hs.653099 GDB:11504927 bA348I14.2 protein-coding 1351413 C20orf82 chromosome 20 open reading frame 82 16344560 140862 NM_080826,AL050320,AL133463,BC017997,BQ771595,CR982468,DB169194,DB202450 NP_543016,CAC36074,AAH17997,Q8TCH5,Q8WVH9,Q9H599 Hs.559353 GDB:11505280 bA149I18.1|dJ1077I2.1 protein-coding 1351580 C20orf83 chromosome 20 open reading frame 83 128615 AL389889 Q5T344 GDB:11505282 bA164D18.1 protein-coding 1342910 C20orf85 chromosome 20 open reading frame 85 17304513,15489334,12477932,11780052,8889548 128602 NM_178456,AL354776,CH471077,BC035405,BU676204,BX093883 NP_848551,CAC17564,EAW75503,AAH35405,Q9H1P6 Hs.43977 GDB:11505284 LLC1|bA196N14.1 protein-coding 1352255 C20orf89 chromosome 20 open reading frame 89 140882 AL157414 GDB:11505292 1344735 C20orf90 chromosome 20 open reading frame 90 140865 AL357033 CAC14922,Q9H4T6 GDB:11505294 bA93B14.2 protein-coding 1347876 C20orf91 chromosome 20 open reading frame 91 14702039,11780052 284800 NM_182583,AL391119,AL450124,AK095693,BC131537 NP_872389,CAI17300,CAI17937,BAC04609,AAI31538,Q5T1J6 Hs.662381 GDB:11505296 FLJ38374|bB329D4.1 protein-coding 1350309 C20orf93 chromosome 20 open reading frame 93 140875 AL121751 GDB:11505300 1352856 C20orf94 chromosome 20 open reading frame 94 12477932 128710 NM_001009608,AL034430,AL035456,AL133340,AL353599,CH471133,BC020787,BC026094 NP_001009608,CAI42184,EAX10342,AAH20787,AAH26094,Q5VYV7,Q5W151 Hs.668782 GDB:11505302 bA204H22.1|bA254M13.1|dJ1099D15.3 protein-coding 1343259 C20orf95 chromosome 20 open reading frame 95 343578 XM_293123,XM_001715877,XM_937379,AL035419,AL133519 XP_293123,XP_001715929,XP_942472,CAI19168,CAI19170,CAM27458,Q5TG30 Hs.451997 GDB:11505304 dJ1100H13.4 protein-coding 1346131 C20orf96 chromosome 20 open reading frame 96 14702039,12477932,11780052 140680 NM_153269,AL034548,CH471133,AK091924,AK097394,AK126082,BC051762,BC134417,BC137450,BX640715,CR597939,CR614965,CR621146 NP_695001,CAB81629,CAI19175,EAX10681,EAX10682,BAC03772,BAC05033,BAC86429,AAI34418,AAI37451,CAE45834,Q6N036,Q6ZTZ8,Q9NUD7 Hs.348112 GDB:11505306 FLJ40075|dJ1103G7.2 protein-coding 1345113 C21orf100 chromosome 21 open reading frame 100 12036297 118421 NM_145033,AY063458 GDB:11510658 1352058 C21orf104 chromosome 21 open reading frame 104 54748 AJ011409 CAB56458,Q9UJ94 Hs.548784 protein-coding 1343792 C21orf105 chromosome 21 open reading frame 105 90625 XM_033004 1345073 C21orf109 chromosome 21 open reading frame 109 12036298 193629 AF490769 AAM18047,Q8TD88 Hs.536614 GDB:11510660 protein-coding 1350728 C21orf110 chromosome 21 open reading frame 110 378822 BQ429618 Hs.567889 PRED4 protein-coding 1354271 C21orf111 chromosome 21 open reading frame 111 11329013 388830 AL163302,CH471079,BG221750 CAB90481,EAX09347,Q9NSH9 Hs.592162 PRED59 protein-coding 1342765 C21orf112 chromosome 21 open reading frame 112 378824 BF694301 Hs.125113 PRED71 protein-coding 1345871 C21orf113 chromosome 21 open reading frame 113 378825 AI015287 1349466 C21orf114 chromosome 21 open reading frame 114 378826 AF304443 1352954 C21orf115 chromosome 21 open reading frame 115 378827 1353985 C21orf116 chromosome 21 open reading frame 116 378820 AF130090 AAG35516,Q9H386 PRED82 protein-coding 1345302 C21orf117 chromosome 21 open reading frame 117 12477932 378828 BC009878 Hs.551009 PRED89 protein-coding 1342696 C21orf118 chromosome 21 open reading frame 118 378829 AF304442 1350828 C21orf119 chromosome 21 open reading frame 119 15489334,12477932 84996 AK026376,BC007928,NM_032910,AP000269,CH471079 AAH07928,Q96HZ7,NP_116299,EAX09875 Hs.58149 MGC14136|PRED84 protein-coding 1347446 C21orf12 chromosome 21 open reading frame 12 54096 GDB:11504689 1353118 C21orf122 chromosome 21 open reading frame 122 15489334,12477932 84739 XM_926239,XM_941787,AP001579,BC004343 XP_931332,XP_946880,AAH04343,Q9BT51 Hs.309203 MGC10960|PRED90 protein-coding 1350562 C21orf123 chromosome 21 open reading frame 123 15489334,14702039,12477932 378832 BC111539,BC111540,NM_199175,BX322563,CH471079,AK096071 AAI11540,AAI11541,Q8N8W7,NP_954644,EAX09345,BAC04694 Hs.517353 MGC129884|MGC129885|PRED80 protein-coding 1347663 C21orf124 chromosome 21 open reading frame 124 85006 NM_032920,BC021550 1345223 C21orf125 chromosome 21 open reading frame 125 284836 NM_194309,AK095355 1343328 C21orf126 chromosome 21 open reading frame 126 391269 XM_372876,XM_940428,XM_001717323,AP001347 XP_372876,XP_945521,XP_001717375 protein-coding 1353705 C21orf128 chromosome 21 open reading frame 128 150147 NM_152507 1346473 C21orf129 chromosome 21 open reading frame 129 14702039,10830953,16009131 150135 Q96M42 AK057397,BC128198,CH471079,NM_152506,AP001615 EAX09593,EAX09594,BAB71470,AAI28199,Q96M42,NP_689719 Hs.350679 FLJ32835|PRED76 protein-coding 1603251 C21orf130 chromosome 21 open reading frame 130 14702039 284835 AK094492 Hs.106234 FLJ37173|PRED42 protein-coding 1344191 C21orf131 chromosome 21 open reading frame 131 14702039 387486 AK094858 Hs.576551 FLJ37539|PRED14 protein-coding 1641971 C21orf134 chromosome 21 open reading frame 134 16826516 727699 BC036902,BC046564 Hs.397403 NLC1-A|NLC1A protein-coding 1343597 C21orf15 chromosome 21 open reading frame 15 11707072,10830953 54094 BX648100,AY040090 AAK74137,P58622 Hs.645614 GDB:11504695 protein-coding 1348175 C21orf19 chromosome 21 open reading frame 19 11707072,10830953 54092 NG_000928,AP000689,AP001725 GDB:11504699 pseudo 1320014 C21orf2 chromosome 21 open reading frame 2 16341674,15489334,15068244,12477932,10830953,9465297 755 NM_004928,AB209578,BC031300,BC072012,BM761336,U84569,U84570,Y11392,Z93322,AP001062,AP001754,CH471079 NP_004919,EAX09435,BAD92815,AAH31300,AAH72012,AAB46590,AAB46591,CAA72202,CAB07532,O43822,Q59F82,Q8N5X6,BAA95562,EAX09431,EAX09432,EAX09433,EAX09434 Hs.517331 GDB:9083506 A2|YF5 protein-coding 1350089 C21orf20 chromosome 21 open reading frame 20 54091 GDB:11504701 1353518 C21orf21 chromosome 21 open reading frame 21 54090 GDB:11504703 1344622 C21orf22 chromosome 21 open reading frame 22 54089 GDB:11504705 1345802 C21orf23 chromosome 21 open reading frame 23 10830953 54088 AI796012 Hs.570434 GDB:11504707 protein-coding 1349082 C21orf24 chromosome 21 open reading frame 24 14693372,10830953 400866 Q6XXX2 NM_001001789,AP001039,AY204744,AY204745,AY204746,AY204748,AY204749,AY204750 NP_001001789,AAP41721,AAP41722,Q6XXX2 Hs.278704,Hs.689802 GDB:11504709 protein-coding 1344496 C21orf29 chromosome 21 open reading frame 29 737768 15489334,12477932,12095917,10830953 737768 54084 NM_144991,AL773602,AL773604,AP001066,AP001067,CH471079,AJ487962,BC021197,BC115414,BC115415 NP_659428,EAX09401,EAX09402,EAX09403,CAD32309,AAH21197,AAI15416,Q14C60,Q8WU66 Hs.660703 GDB:11504718 MGC11251|TSPEAR protein-coding 1351394 C21orf30 chromosome 21 open reading frame 30 16780588,10830953 54083 XM_001722905,XM_001720003,XM_001726311,AP001065,CH471079,AL117578 XP_001722957,XP_001720055,XP_001726363,EAX09424,CAB56001,Q9UFM2 Hs.542533 GDB:11504720 DKFZP434C128 protein-coding 1349674 C21orf31 chromosome 21 open reading frame 31 54082 GDB:11504722 1346202 C21orf32 chromosome 21 open reading frame 32 10830953,15782160 54081 AP001753 BAA95555,P57056 GDB:11504724 protein-coding 1343023 C21orf33 chromosome 21 open reading frame 33 15489334,15467735,15082224,12477932,12065598,10830953,9205129,9179495,9150728,8975701,8889549,8753807,1286669 8209 U53003,Y07572,NM_198155,AB001517,AP001055,AP001753,CH471079,D86060,U53007,AA045757,BC002370,BC003587,CR595541,CR597695,CR599538,CR609783,CR621591,CR626372,D86061,D86062,NM_004649 BAA12985,AAC50937,CAA68857,P30042,NP_004640,NP_937798,BAA21138,BAA21139,BAA95554,EAX09454,EAX09455,EAX09456,BAA20888,AAC50938,AAH02370,AAH03587,BAA12984 Hs.413482 GDB:5887108 D21S2048E|ES1|GT335|HES1|KNP-I|KNPH|KNPI protein-coding 1351648 C21orf34 chromosome 21 open reading frame 34 14702039,12036298,10830953,8889548 388815 BC130606,CF135136,NM_001005733,NM_001005732,NM_001005734,AP000473,AP000962,AP001172,AP001343,AP001344,AP001346,CH471079,AF486622,AK095614,AL700268,BC130602 AAI30603,AAI30607,A1L4M7,Q8TDA7,NP_001005733,NP_001005732,NP_001005734,EAX10037,EAX10038,EAX10039,AAL92104 Hs.473394 GDB:11504726 C21orf35|FLJ38295 protein-coding 1345634 C21orf36 chromosome 21 open reading frame 36 54077 GDB:11504730 1345304 C21orf37 chromosome 21 open reading frame 37 54076 NM_001005521 GDB:11504732 1350634 C21orf39 chromosome 21 open reading frame 39 54075 GDB:11504736 1347138 C21orf40 chromosome 21 open reading frame 40 54074 GDB:11504738 1344582 C21orf41 chromosome 21 open reading frame 41 This gene is transcribed with alternatively spliced transcript variants but it does not appear to encode a protein. The gene lies in the same orientation as the glutamate receptor, ionotropic, kainate 1 (GRIK1) locus and has some of its exons interspersed with GRIK1 exons. Other exons of this locus overlap some exons belonging to the BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1) locus which lies in the opposite orientation. The independent existence of this gene is supported by transcriptional evidence and the lack of a common ORF between this gene and GRIK1. 12036298,10830953 54073 NR_002215,NR_002214,AF124731,AP000238,AP000239,AP000240,CD364881,CF528662,CK820192,CK820193 Hs.659368,Hs.680658 GDB:11504740 miscrna 1353252 C21orf42 chromosome 21 open reading frame 42 54072 NM_058184 GDB:11504742 1346338 C21orf44 chromosome 21 open reading frame 44 54070 GDB:11504744 1321877 C21orf45 chromosome 21 open reading frame 45 17199038,16303743,15881666,15489334,12477932,12036298,11001876,10830953,10773462 54069 NM_018944,AP000266,CH471079,CQ783409,AF231921,AF387845,AK075281,AW962893,BC042917,BU567844,BU616573,BU623181,CB959520 NP_061817,EAX09881,CAF86614,AAF72945,AAK70498,BAC11517,AAH42917,Q9NYP9 Hs.190518 GDB:11504746 B28|C21orf46|FASP1|MIS18alpha protein-coding 1353237 C21orf47 chromosome 21 open reading frame 47 10830953 54068 AI282569 GDB:11504750 protein-coding 1347089 C21orf49 chromosome 21 open reading frame 49 54067 NM_001006116 GDB:11504754 1351649 C21orf51 chromosome 21 open reading frame 51 15489334,14702039,12477932,12036298,11707072,10830953,7566098 54065 NM_058182,AP000320,AP000321,AP000322,CH471079,AK057880,AK092693,AY033902,AY081143,AY081144,BC015596,BC045820,BC064410,BF795619,BI460535,BM989806,CR615562 NP_478062,EAX09785,EAX09786,EAX09787,EAX09788,AAK68720,AAL91137,AAL91138,AAH15596,P58511,Q8TCY0 Hs.656195 GDB:11504756 protein-coding 1342962 C21orf52 chromosome 21 open reading frame 52 54064 GDB:11504758 1346218 C21orf53 chromosome 21 open reading frame 53 54063 GDB:11504760 1349584 C21orf54 chromosome 21 open reading frame 54 10830953 339629 AA934973 A6NM66 Hs.125234 GDB:11504762 protein-coding 1353353 C21orf55 chromosome 21 open reading frame 55 16344560,15489334,14702039,12477932,12036298,10830953,9373149,8125298 54943 NM_001040192,NM_017833,AP000302,CH471079,AF462153,AK000468,AK225514,BC029509,DA234338,DA249316 NP_001035282,NP_060303,EAX09830,EAX09831,AAL59618,BAA91185,Q9NX36,AAI56695 Hs.458308 GDB:11504764 C21orf78 protein-coding 1344058 C21orf56 chromosome 21 open reading frame 56 15231747,16381901,15489336,15489334,12477932,11230166,11076863,10830953 84221 NM_032261,AP001468,AP001759,CH471079,AL136871,BC009497,BC065570,BC084577,BC093804,BC112293,CR533451 NP_115637,BAA95497,EAX09306,EAX09307,CAB66805,AAH09497,AAH65570,AAH84577,AAH93804,AAI12294,CAG38482,Q0JSD6,Q9H0A9,CAL38578,CAL38595 Hs.381214 GDB:11504766 DKFZp434N0650|MGC99490 protein-coding 1318661 C21orf57 chromosome 21 open reading frame 57 16341674,12477932,11707072,10830953 54059 NM_058181,NM_001006114,AP000471,CH471079,AI262212,AK128875,AY040873,AY040874,AY040875,AY040876,BC022828,BC068100,BC119770,BC122865,BC131553,BG473705,BM796288 NP_478061,NP_001006114,EAX09288,EAX09289,EAX09290,EAX09291,EAX09292,EAX09293,EAX09294,EAX09295,AAK74138,AAK74139,AAK74140,AAK74141,AAH22828,AAI19771,AAI22866,AAI31554,P58557,Q8TBC8 Hs.474066 GDB:11504768 FLJ46907 protein-coding 1351432 C21orf58 chromosome 21 open reading frame 58 14702039,12477932,11707072,10830953,7757816 54058 NM_058180,AP000471,CH471079,AK056387,AK096641,AK098098,AY039243,AY039244,BC026042,BC028934,BC044223,BC098408,BC121007,BC121008,BM475055 NP_478060,EAX09282,EAX09283,EAX09284,EAX09285,EAX09286,EAX09287,BAC05232,AAK72408,AAK72409,AAI21008,AAI21009,P58505,Q0VAL7,Q0VAL8,Q8N7N9 Hs.236572 GDB:11504770 protein-coding 1315861 C21orf59 chromosome 21 open reading frame 59 16780588,17567994,15592455,15489334,14702039,12477932,9373149,8125298 56683 AF282851,AK000474,AK055328,AK094456,AK097566,AK098577,AK223318,AK225697,BC000709,CR591188,CR591409,CR591794,CR607241,CR616421,CR625119,DQ655907,DQ655908,DQ656039,NM_021254,AP000275,CH471079 EAX09868,AAG00496,BAA91189,BAB70903,BAC04359,BAD97038,AAH00709,P57076,Q53FH0,Q8N9H5,Q96NJ2,Q9NX33,NP_067077,EAX09865,EAX09866,EAX09867 Hs.5811 GDB:11510662 C21orf48|FLJ20467|FLJ37137|FLJ40247 protein-coding 1312868 C21orf6 chromosome 21 open reading frame 6 16189514,15489334,14702039,12477932,10830953,10729227,9373149,8125298 10069 NM_016940,AF129075,AL163249,CH471079,BC012546,BC017912,CR592518,CR607703,CR610226,Y19009,AF212232,AK000056,AK223357,AL355726 NP_058636,CAB90431,EAX09930,AAH12546,AAH17912,CAB88085,P57060,Q53FD2,EAX09931,EAX09932,AAK14918,BAA90913,BAD97077 Hs.34136 GDB:9954961 GL011 protein-coding 1343736 C21orf62 chromosome 21 open reading frame 62 17567994,15342556,15146197,12477932,12036298,10773462 56245 NM_019596,CH471079,AF231922,AI651610,AK290983,BC004959,BC069689,BC069709,BC069766,BC069779,BE466137,BM512397,BP214434,BU789528,CN428551,DQ656042 NP_062542,EAX09853,EAX09854,AAF72946,BAF83672,Q4G0I2,Q4G0I3,Q9NYP8 Hs.517235 GDB:11504774 B37|C21orf120|PRED81 protein-coding 1316841 C21orf63 chromosome 21 open reading frame 63 17672918,15489334,12975309,12477932,11707072 59271 NM_058187,AP000269,AP000270,AP000271,AP000272,CH471079,AF358258,AK125013,AK126660,AY040087,AY358787,BC038710,BX373211,CR600031,CR604238,CR605246,CR608560,CR608735,CR608969,CR615783 NP_478067,EAX09870,EAX09871,EAX09872,EAX09873,AAL40411,BAC86633,AAK74135,AAQ89147,AAH38710,P58658,Q6ZTF6 Hs.208358 GDB:11504622 B18|B19|C21orf64|PRED34|SUE21 protein-coding 1347551 C21orf64 chromosome 21 open reading frame 64 59270 GDB:11504802 1353290 C21orf66 chromosome 21 open reading frame 66 Similarity to a transcriptional repressor suggests that this gene's protein product is involved in the regulation of transcription. Alternative splicing of this gene results in three transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. 16780588,17081983,16344560,15302935,14702039,12477932,11707072,11042152,10773462 94104 AK075042,AK093291,AK128513,AL706425,AY033903,AY033904,AY033905,AY033906,BC005213,BC030539,BC062992,BC084542,CD557070,CR603496,DB031308,NM_016631,NM_013329,NM_058191,AP000279,AP000280,CH471079,AF153208,AF208862,AF231920,AJ279080,AJ279081 BAC11369,AAK68721,AAK68722,AAK68723,AAK68724,AAH30539,AAH84542,Q5XGA1,Q8N2J1,Q8N6E6,Q9NZD7,Q9Y5B6,AAI56215,ABM82550,ABM85741,NP_057715,NP_037461,NP_478071,EAX09857,EAX09858,EAX09859,EAX09860,EAX09861,AAD34617,AAF64276,AAF72944,CAC40813,CAC40814 Hs.706813 GDB:11504804 BM-020|FLJ90561|GCFC protein-coding 1351457 C21orf67 chromosome 21 open reading frame 67 11707072 84536 P58512 NM_058188,AL844908,CH471079,AF380178,AY040088,BC128244,BC128245 NP_478068,EAX09373,AAL34496,AAK74136,AAI28245,AAI28246,P58512 Hs.351814 GDB:11510664 MGC149386|MGC149387|PRED54 protein-coding 1342876 C21orf69 chromosome 21 open reading frame 69 16780588,15489334,12477932,11707072 84537 NM_058189,AL844908,AY035381,BC101235,BC101236,BC101237,BC101238 NP_478069,AAK60445,AAI01236,AAI01237,AAI01238,AAI01239,P58556,Q495D5 Hs.534504 MGC120186|MGC120187|MGC120189|PRED54 protein-coding 1347445 C21orf7 chromosome 21 open reading frame 7 16189514,16780588,15489336,15489334,15168726,14759258,14702039,12477932,11707072,11230166,11076863,10830953 56911 EF219158,EF219159,EF219160,NM_020152,AF124730,AF129075,AL163249,CH471079,AF269161,AF269162,AF269163,AF269164,AK056341,AK122780,AL713701,AY033900,AY171599,BC008567 ABN09904,ABN09905,ABN09906,P57077,Q8TCL9,CAL38552,CAL38649,AAH08567,NP_064537,CAB90434,EAX09918,EAX09919,EAX09920,EAX09921,EAX09922,EAX09923,AAF81751,AAF81752,AAF81753,AAF81754,CAD28500,AAK68718,AAO16519 Hs.222802 GDB:11505316 HC21ORF7|TAK1L|TAKL|TAKL-1|TAKL-2 protein-coding 1322617 C21orf70 chromosome 21 open reading frame 70 16964243,15635413,15489334,12477932,11790298,11707072,10830953 85395 NM_058190,AL163301,AL844908,AP001505,CH471079,AF391113,AF391114,BC009341 NP_478070,CAB90492,EAX09367,EAX09368,EAX09369,EAX09370,EAX09371,EAX09372,AAL34504,AAL34505,AAH09341,Q9NSI2 Hs.410830 GDB:11504931 PRED56 protein-coding 1352200 C21orf71 chromosome 21 open reading frame 71 282566 AF086441 Hs.384586 PRED21 protein-coding 1342798 C21orf72 chromosome 21 open reading frame 72 282568 1349398 C21orf74 chromosome 21 open reading frame 74 12036298 54143 AY077696 1352744 C21orf75 chromosome 21 open reading frame 75 282569 1347302 C21orf77 chromosome 21 open reading frame 77 55264 NM_018277,AK001794 1354052 C21orf79 chromosome 21 open reading frame 79 282570 1349420 C21orf8 chromosome 21 open reading frame 8 54147 AA843704,BX100223 Hs.124532 GDB:11505314 protein-coding 1344304 C21orf81 chromosome 21 open reading frame 81 12036297 114035 NM_153750,AF426257 1353720 C21orf82 chromosome 21 open reading frame 82 12036297 114036 AF426258 1348308 C21orf84 chromosome 21 open reading frame 84 12036297 114038 NM_153752,AF426261 1348638 C21orf86 chromosome 21 open reading frame 86 12036297 257103 NM_153454,AF426264 1345843 C21orf87 chromosome 21 open reading frame 87 12036297 257357 P59051 NM_001040140,AF064861,CH471079,AF426265,BC130301,BC130303 NP_001035230,EAX09662,EAX09663,AAM53521,AAI30302,AAI30304,P59051 Hs.190548 protein-coding 1343351 C21orf88 chromosome 21 open reading frame 88 15489334,12477932,12036297 114041 NM_153754,AF064860,AF426266,AF426267,BC062296,BC080530,BC119737,BC119738 NP_715635,AAM53522,P59052,Q547X5,AAH80530,AAI19738,AAI19739,AAM53523 Hs.375120 protein-coding 1351562 C21orf89 chromosome 21 open reading frame 89 12036297 114042 P59042 AF426268 AAM53524,P59042 Hs.653520 protein-coding 1352884 C21orf9 chromosome 21 open reading frame 9 54144 AF107258 GDB:11505318 1347547 C21orf90 chromosome 21 open reading frame 90 12036297 114043 NM_153204,AF426270 1352771 C21orf91 chromosome 21 open reading frame 91 16344560,16189514,14702039,12477932,9828130,9373149,8125298 54149 NM_001100420,NM_017447,AL109761,CH471079,AF239726,AJ227876,AK023825,AK225123,BC015468,BF739854,CR457317,CR749496,DA215855,DB066982,NM_001100421 NP_001093891,NP_001093890,NP_059143,EAX10020,EAX10021,EAX10022,AAF44695,BAB14691,AAH15468,CAG33598,CAH18319,Q68DA1,Q6IA38,Q96BK9,Q9NYK6 Hs.293811 GDB:11505320 C21orf14|C21orf38|DKFZp781D1223|YG81 protein-coding 1345949 C21orf93 chromosome 21 open reading frame 93 12036297 246704 NM_145179,AF427488 1350860 C21orf94 chromosome 21 open reading frame 94 12036297 246705 NM_145180,AF427489 GDB:11510666 1344056 C21orf96 chromosome 21 open reading frame 96 80215 NM_025143,AK024509 1347523 C21orf97 chromosome 21 open reading frame 97 AK024977 1344415 C21orf99 chromosome 21 open reading frame 99 12036297 149992 NM_153773,AF427490 1350477 C22orf10 chromosome 22 open reading frame 10 414351 1346389 C22orf12 chromosome 22 open reading frame 12 66034 AB050770 1353154 C22orf13 chromosome 22 open reading frame 13 737633 15489334,14702039,12477932 737633 83606 NM_031444,AB049215,AP000356,CH471095,AK024723,AK025242,AK054681,AK098754,BC002924,BC004144,BC015685,BC041568,BC053529,BC070109,BG773056,CR605963 NP_113632,BAB68411,EAW59665,EAW59666,EAW59667,EAW59668,EAW59669,BAB70791,AAH02924,AAH53529,AAH70109,Q7Z629,Q96NT3 Hs.9850 LLN4|MGC1842 protein-coding 1349066 C22orf15 chromosome 22 open reading frame 15 15461802,14702039,12477932,10591208 150248 NM_182520,AB050773,AP000348,AP000349,CH471095,AK093880,BC113450,BC113452,CR456371 CAK54507,CAK54806,NP_872326,BAB83035,EAW59599,EAW59600,EAW59601,BAC04241,AAI13451,AAI13453,CAG30257,Q14D93,Q8N9T7,Q8WYQ4 Hs.116254 FLJ36561|N27C7-3 protein-coding 1347670 C22orf16 chromosome 22 open reading frame 16 15489334,12477932 400916 NM_213720,AB050774,AP000349,CH471095,AK289560,BC053570,BC065232,CR594120,CR621040 NP_998885,BAB83036,EAW59602,BAF82249,AAH65232,Q8WYQ3 Hs.66915 MGC70831|N27C7-4 protein-coding 1345156 C22orf17 chromosome 22 open reading frame 17 191593 GDB:11505380 1351784 C22orf23 chromosome 22 open reading frame 23 15489334,15461802,14702039,12477932,11237012 84645 NM_032561,AL031587,CH471095,AF324466,AK057349,BC031998,CR456440 NP_115950,CAI18965,CAQ06633,CAQ06634,EAW60200,EAW60201,AAK07640,BAB71442,AAH31998,CAG30326,Q5JYU9,Q9BZE7,CAK54469,CAK54768 Hs.517612 GDB:11505386 EVG1|FLJ32787|dJ1039K5.6 protein-coding 1602005 C22orf24 chromosome 22 open reading frame 24 10591208 25775 NM_015372,CH471095,Z82248,AJ704765,AJ704766,AL050256 NP_056187,EAW60000,CAI18786,CAG28925,CAG28926,CAB43358,Q9Y442 Hs.627602 HSN44A4A protein-coding 1606461 C22orf25 chromosome 22 open reading frame 25 15489334,15461802,14702039,12477932 128989 NM_152906,AC005663,AL713640,BC041339,AC006547,CH471176,AK057461,AK092484,AK289862,CR456355,CR591827,CR594151,CR602031,CR610806,CR622984,CR627452 NP_690870,CAD28454,AAH41339,EAX03001,EAX03002,EAX03003,EAX03004,EAX03005,EAX03006,BAB71498,BAC03902,BAF82551,CAG30241,CAH10533,Q6AHY1,Q6ICL3,CAK54496,CAK54795 Hs.474233 DKFZp761P1121 protein-coding 1602476 C22orf26 chromosome 22 open reading frame 26 16344560,14702039 55267 NM_018280,AL121672,CH471138,AK001807,AK096201,AU134173 NP_060750,EAW73396,EAW73397,BAA91920,Q9NV39,AAI52897,AAI56804 Hs.567529 FLJ10945 protein-coding 1605075 C22orf28 chromosome 22 open reading frame 28 16236267,15489334,15461802,12529303,12477932,11042152,10931946,10591208,16189514 51493 BC002970,BC010308,BC016707,BU615556,CR456450,CR457175,CR591502,CR595204,CR597852,CR602136,CR602149,CR604247,CR609867,CR611762,CR612617,CR619857,CR619885,DC396330,NM_014306,AL021937,CH471095,AF155658,AF161466,AL050255,AL137272,BC000151 AAH00151,AAH02970,AAH10308,AAH16707,CAG30336,CAG33456,Q9Y3I0,ABM81857,ABM85018,NP_055121,CAB38260,EAW60021,AAF67477,AAF29081,CAB43357,CAB70670 Hs.705468 DJ149A16.6|HSPC117|RP1-149A16.6 protein-coding 1606220 C22orf29 chromosome 22 open reading frame 29 16344560,12477932,9373149,8125298 79680 NM_024627,AC000076,CH471176,AK024778,AK026924,AK225088,AK291262,AL832509,BC008696,BC011679,BX640785,BX640969,BX640998,CR607852,DA182195,DA757523 NP_078903,EAX03018,EAX03019,BAB14998,BAF83951,AAH11679,CAE45875,CAE45984,CAE46001,Q7L3V2 Hs.105642 FLJ21125 protein-coding 1604500 C22orf30 chromosome 22 open reading frame 30 12477932 253143 NM_173566,AC005004,AL031255,CH471095,AK123082,AK130944,BC040859,BX647272,CT841517 NP_775837,CAI22445,EAW59992,EAW59993,EAW59994,EAW59995,BAC85533,BAC85470,AAH40859,CAJ86447,Q5THK0,Q5THK1 Hs.438906 DKFZp781P2328|FLJ23059|MGC50372|RP4-694E4.2 protein-coding 1604374 C22orf31 chromosome 22 open reading frame 31 15489334,15461802,12529303,12477932,10591208 25770 NM_015370,AL021393,CH471095,AL035364,BC074758,BC126262,BC126264,CR456405 NP_056185,EAW59772,CAA23017,AAH74758,AAI26263,AAI26265,CAG30291,O95567,ABZ92316 Hs.50891 HS747E2A|bK747E2.1 protein-coding 1602445 C22orf32 chromosome 22 open reading frame 32 15461802,14702039,12477932 91689 NM_033318,AL021878,CH471095,Z82192,AK095636,AL449243,BC024237,CR456453,CR596524,CR612282,CR617408 NP_201575,CAI19952,EAW60488,CAI19711,CAC15000,AAH24237,CAG30339,Q9H4I9 Hs.306083 dJ186O1.1 protein-coding 1606105 C22orf33 chromosome 22 open reading frame 33 15461802,12477932 339669 NM_178552,CH471095,Z73420,Z82180,BC042635,CR456416 NP_848647,EAW60128,EAW60129,EAW60130,CAI18768,AAH42635,CAG30302,O43247 Hs.124502 EAN57|MGC35206|cE81G9.2 protein-coding 1606646 C22orf36 chromosome 22 open reading frame 36 15489334,14702039,12477932 388886 NM_207644,AP000356,CH471095,AK097054,BC017595,BC032388,BC108684,BI544432,CR613314,CR614356,DB535827 NP_997527,EAW59674,EAW59675,EAW59676,BAC04937,AAH17595,AAH32388,AAI08685,Q2VPJ9,Q8WVQ4 Hs.113314 MGC131773 protein-coding 1606462 C22orf39 chromosome 22 open reading frame 39 15461802,14702039,12477932 128977 NM_173793,AC000068,CH471176,AK095271,AK290073,BC030758,BC046204,BC062599,CR456339,CR599972,CR603677 NP_776154,EAX03039,EAX03040,EAX03041,BAF82762,AAH62599,CAG30225,Q6P5X5 Hs.659565,Hs.661679 MGC74441 protein-coding 1312287 C22orf9 chromosome 22 open reading frame 9 17353931,15489334,15461802,15324660,14702039,12477932,10591208,10231032,9110174,8619474 23313 NM_015264,AL008718,CH471138,AB023147,AI830875,AK025608,AK094359,AK094937,AK124648,AY007105,BC016882,BC038414,BC053595,NM_001009880,CR456402 NP_001009880,NP_056079,CAI17946,CAQ08664,CAQ08665,CAQ08666,CAQ08667,CAQ08668,EAW73374,EAW73375,EAW73376,BAA76774,BAC85917,AAH16882,AAH38414,AAH53595,CAG30288,Q6ICG6,Q8IUY4,CAK54391,CAK54690 Hs.592207 protein-coding 1351796 C2CD2 C2 calcium-dependent domain containing 2 16780588,15289880,12477932,10830953 25966 NM_015500,NM_199050,AP001619,AP001745,CH471079,AB047784,AB047785,AI143200,AI298951,AK125120,AK128550,AK129520,AL050173,AL833323,BC020927,BC035070,BC062323,CR627455,R13033 NP_056315,NP_950251,BAA95528,EAX09582,EAX09583,BAD74068,BAD74069,BAC85176,CAB43307,AAH62323,CAH10536,Q6P6D1,Q6ZPD4,Q9Y426 Hs.473894,Hs.675058 GDB:11504714 C21orf25|C21orf258|DKFZP586F0422|DKFZp686O198|MGC71445|TMEM24L protein-coding 1607065 C2CD3 C2 calcium-dependent domain containing 3 16344560,14702039,12477932 26005 NM_015531,AP002392,AP003717,AB231763,AB231764,AK091397,AK092089,AK125894,AL080220,AL833903,BC035599,BC110508,BM460060,CD369754,DB068715,DB078025 NP_056346,BAE46898,BAE17137,BAC03654,BAC03802,BAC86334,CAB45779,CAD38759,AAH35599,AAI10509,Q4AC94,Q8NAU5,Q9Y4M2 Hs.557938,Hs.694798 DKFZP586P0123|FLJ34770 protein-coding 1354289 C2orf12 chromosome 2 open reading frame 12 15815621,15489334,12477932 192137 Q8TDM3 XM_944033,AC092153,AL117617,BC065192,BC069687,BC069706,BC069763,BC080620,XM_938663 XP_949126,AAX93094,AAH65192,AAH69687,AAH69706,AAH69763,AAH80620,Q8TDM3,XP_943756 Hs.470412 DKFZp564H0764|HCC-4 protein-coding 1344091 C2orf13 chromosome 2 open reading frame 13 C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM] 17353262,18172500,18077224,17396150,15815621,15489334,12477932 200558 NM_173545,AC105054,AC127383,AC130709,CH471053,AK290841,BC030711,BC041144 NP_775816,AAY24113,AAY24008,AAY14945,EAW99871,EAW99872,BAF83530,AAH41144,Q8IW19 Hs.258941 APFL|APLF|MGC47799|PALF|Xip1 protein-coding 1345730 C2orf14 chromosome 2 open reading frame 14 14702039,12477932,11230166 440908 AK093281,AL136789,BC069727,BC069809 CAB66723,Q9H0H9 Hs.633271,Hs.640308 DKFZp434F1719 protein-coding 1349020 C2orf15 chromosome 2 open reading frame 15 15815621,15489334,12477932 150590 NM_144706,AC092587,CH471127,BC021264 NP_653307,AAX88926,EAX01893,AAH21264,Q8WU43,ABM83537,ABM86777 Hs.352211 MGC29762 protein-coding 1352942 C2orf16 chromosome 2 open reading frame 16 17081983,15815621,12477932,11230166 84226 NM_032266,AC074091,CH471053,AL136898,AL834384,BC115376,BC115377,CR749335 NP_115642,AAX93198,EAX00566,CAB66832,CAD39047,AAI15377,AAI15378,CAH18189,Q1RLM9,Q68DN1 Hs.131021 DKFZp434G118|DKFZp781D2023 protein-coding 1319452 C2orf18 chromosome 2 open reading frame 18 737633 15489334,14702039,12975309,12477932,9373149,8125298,16303743,16169070,15815621 737633 54978 NM_017877,AC011740,CH471053,AK025889,AK075164,AK222929,AY358820,BC005887,BC016389,BC028081,BC035519,BX647807,BX648017,CR457243,CR613089,AK000562 NP_060347,AAX93265,EAX00673,EAX00674,EAX00675,EAX00676,BAA91255,BAC11445,BAD96649,AAQ89179,AAH16389,AAH28081,CAG33524,Q8N357 Hs.516034 FLJ20555 protein-coding 1349564 C2orf19 chromosome 2 open reading frame 19 12477932 394261 Q8NEE0 BC031945,NM_001024676,AC016757,CH471063 AAH31945,Q8NEE0,NP_001019847,AAY24334,EAW71142 protein-coding 1347260 C2orf20 chromosome 2 open reading frame 20 394262 BC009491 1350674 C2orf21 chromosome 2 open reading frame 21 14702039 285175 NM_182587,AC006385,CH471063,AK090815,BC136693 NP_872393,EAW70465,EAW70466,EAW70467,EAW70468,EAW70469,EAW70470,BAC03521,AAI36694,Q8N2C7 Hs.534605 FLJ33496 protein-coding 1343498 C2orf24 chromosome 2 open reading frame 24 15489334,12477932,10810093,9110174,8619474 27013 AC068946,CH471063,AF070638,AF151815,AK075274,AY007160,BC001393,BC012821,BI912613,CR457401,CR600598,CR601240,CR615171,CR616024,NM_015680,CR621433,DB477110 NP_056495,EAW70684,EAW70685,EAW70686,EAW70687,EAW70688,AAC25393,AAD34052,AAG02008,AAH01393,AAH12821,CAG33682,Q9BV87 Hs.4973 CGI-57 protein-coding 1346733 C2orf25 chromosome 2 open reading frame 25 Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to adenosylcobalamin in mitochondria and to methylcobalamin in cytoplasm is necessary for homeostasis of methylmalonic acid and homocysteine. C2ORF25 encodes a protein involved in an early step of cobalamin metabolism (Coelho et al., 2008 [PubMed 18385497]).[supplied by OMIM] 18385497,15815621,15489334,12477932,11042152,9110174,8619474 27249 NM_015702,AC110782,CH471058,AF060224,AF131802,AF161510,BC000932,BC010894,BC022859,BC023995,CR592888,CR594994,CR595331,CR596944,CR611592,CR612420,CR624911,CR626278 NP_056517,AAY14891,EAX11533,EAX11534,EAX11535,EAX11536,EAX11537,AAG43124,AAD20048,AAF29125,AAH00932,AAH10894,AAH22859,AAH23995,Q9H3L0 Hs.5324 CL25022 protein-coding 1353501 C2orf27 chromosome 2 open reading frame 27 15815621,15489334,12477932,9110174,8619474 29798 NM_013310,AC093724,CH471058,AF038169,AI302788,AI418663,AK292003,BC071972,BC093716,BC112189 NP_037442,AAX82001,EAX11684,EAX11685,EAX11686,AAB97362,BAF84692,AAH93716,AAI12190,Q580R0 Hs.635289,Hs.655680 MGC138394 protein-coding 1323150 C2orf28 chromosome 2 open reading frame 28 This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 17524364,17387583,15815621,15489334,15340161,12975309,12477932,11042152,10948432,8889548 51374 NM_016085,NM_080592,AC013403,CH471053,AA604432,AB009017,AF077037,AF144055,AF275744,AK291894,AW966996,AY358968,BC002846,BC011006,BC021237,BC035850,BI194121,BQ420456,BQ718371,BQ962996,CA450289,CD513162,CF126865,CR591565,CR596120,CR600041,CR602545,CR602915,CR604043,CR607127,CR607502 NP_057169,NP_542159,EAX00615,EAX00616,EAX00617,EAX00618,EAX00619,BAF80618,AAD27770,AAD31317,AAK69412,BAF84583,AAQ89327,AAH02846,AAH11006,AAH21237,AAH35850,Q6UW56 Hs.9527 APR--3|APR-3|APR3|HSPC013|PRO240|p18 protein-coding 1348103 C2orf29 chromosome 2 open reading frame 29 10497265,15815621,15489334,14702039,12477932 55571 NM_017546,AC013722,CH471127,AF103798,AK024221,BC018664,BC064421,BM923954,BX394182,CR611582,CR614528 NP_060016,AAY15088,EAX01821,AAF02418,AAH18664,AAH64421,Q9UKZ1 Hs.593973 C40 protein-coding 1312440 C2orf3 chromosome 2 open reading frame 3 The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. 17309879,17081983,15815621,15489334,15302935,14702039,12477932,10500253,10480038,2556218,1370479 6936 NM_003203,AC005034,CH471053,AB026911,AK097564,BC000853,BC064559,BG506463,BM749635,BQ880304,BU189326,BU852546,BU853933,CA772142,EF158467,EF158468,EF158469 NP_003194,AAY14973,EAW99586,EAW99587,EAW99588,EAW99589,BAA85386,AAH00853,AAH64559,ABO84856,ABO84857,ABO84858,P16383,Q9BVX3 Hs.303808 GDB:131562 DNABF|GCF|TCF9 protein-coding 1315163 C2orf30 chromosome 2 open reading frame 30 16531414,15815621,15489334,14702039,12975309,12477932,9110174,8619474 27248 NM_015701,NM_001127397,NM_001127398,AC007883,CH471053,AF131743,AF131849,AK001913,AY358717,AY453410,BC013129,BC022228,BU784879,CR597633,CR601764,CR604548,CR608194,CR609693,CR613668,CR616366,CR623209,DB451941,DB539199 NP_056516,NP_001120869,NP_001120870,AAY24352,EAX00163,EAX00164,EAX00165,EAX00166,AAD20029,AAD20060,BAA91974,AAQ89079,AAR26725,AAH13129,AAH22228,Q96DZ1,ABM85688 Hs.438336,Hs.710478 CL24936|CL25084|ERLECTIN|XTP3TPB protein-coding 1344280 C2orf31 chromosome 2 open reading frame 31 737633 11230166 737633 81561 AL136852 1321011 C2orf33 chromosome 2 open reading frame 33 18353969,12477932 56947 NM_020194,AC097662,CH471063,AF226049,AF246239,AF258660,AK026137,AL833032,BC000797,BC093024,CR593325,CR604101,CR605975,CR610466,CR619534,CR625753 NP_064579,AAY24252,EAW70859,EAW70860,EAW70861,EAW70862,EAW70863,EAW70864,EAW70865,EAW70866,EAW70867,EAW70868,EAW70869,AAF86949,AAG44486,AAG44658,BAB15373,CAH56328,AAH00797,AAH93024,Q9GZY8 Hs.471528 DKFZp666J168|GL004|MFF|MGC110913 protein-coding 1605634 C2orf34 chromosome 2 open reading frame 34 16344560,12477932 79823 NM_024766,AC012455,AC016703,AC019184,AC067957,CH471053,AK027104,BC029359,BC053733,CR594532,CR604494,CR616776,DA760277,DB461740 NP_079042,AAX93163,AAX88866,EAX00272,EAX00273,EAX00274,BAB15658,AAH29359,AAH53733,Q7Z624 Hs.468349 FLJ23451 protein-coding 1605035 C2orf37 chromosome 2 open reading frame 37 14702039,12477932,8889548 80067 AC007969,CH471058,AK021599,AK023158,BC120957,NM_025000,BC120958,CA314004,CR602094,CR933646 NP_079276,AAY14729,EAX11212,EAX11213,BAB14436,AAI20958,AAI20959,CAI45947,Q0IJ67,Q5H9S7 Hs.659439 DKFZp781C2086|FLJ13096 protein-coding 1605894 C2orf39 chromosome 2 open reading frame 39 15815621,14702039,12477932 92749 NM_145038,AC010896,AC093378,CH471053,AK057222,AK289953,AL833892,BC009488 NP_659475,AAY14647,AAY15082,EAX00688,EAX00689,BAB71385,BAF82642,CAD38748,Q96MC2 Hs.393714 FLJ32660|MGC16372 protein-coding 1603606 C2orf40 chromosome 2 open reading frame 40 17786363,15815621,15489334,12975309,12800218,12477932 84417 NM_032411,AC018878,CH471127,CS072958,AF325503,AY358601,BC021742 NP_115787,AAY15084,EAX01751,EAX01752,CAI93686,AAG42321,AAQ88964,AAH21742,Q9H1Z8,ABM83338,ABM86552 Hs.43125 ECRG4 protein-coding 1603029 C2orf42 chromosome 2 open reading frame 42 12477932 54980 NM_017880,AC016700,CH471053,AK000565,AK026303,AL136834,BC002825,BC005079 NP_060350,AAX93192,EAW99828,EAW99829,EAW99830,EAW99831,BAA91258,BAB15438,CAB66768,AAH02825,AAH05079,Q9NWW7 Hs.413123 FLJ20558 protein-coding 1605056 C2orf43 chromosome 2 open reading frame 43 12477932 60526 NM_021925,AC012065,AC012361,CH471053,AK025473,AL137397,BC017473,CR598141,CR617559 NP_068744,AAX93236,AAY14959,EAX00806,EAX00807,EAX00808,EAX00809,EAX00810,BAB15142,AAH17473,Q9H6V9 Hs.187823 FLJ21820 protein-coding 1601962 C2orf44 chromosome 2 open reading frame 44 12029088,17353931,12477932 80304 NM_025203,AC104665,CH471053,AF218013,AK025598,BC035698 NP_079479,AAY24115,EAX00771,EAX00772,AAG17255,BAB15186,AAH35698,Q9H6R7 Hs.24624 FLJ21945|PP384 protein-coding 1603199 C2orf47 chromosome 2 open reading frame 47 12477932 79568 Q658V9,Q8WWC4,Q9H671 NM_024520,AC097717,CH471063,AK026208,AL832964,BC017959,CR591130,CR622948 NP_078796,AAY24163,EAW70195,EAW70196,BAB15393,CAH56348,AAH17959,Q658V9,Q8WWC4,Q9H671 Hs.154494 DKFZp666A212|FLJ22555 protein-coding 1606097 C2orf48 chromosome 2 open reading frame 48 15489334,14702039,12477932 348738 NM_182626,AC007240,CH471053,AK057831,BC093999,BC094001 NP_872432,EAX00967,BAB71592,AAH93999,AAH94001,Q96LS8 Hs.676025 FLJ25102 protein-coding 1604297 C2orf49 chromosome 2 open reading frame 49 17081983,15815621,15489334,12477932 79074 NM_024093,AC012360,CH471127,AK127661,BC001310 NP_076998,AAY15011,EAX01763,AAH01310,Q9BVC5,ABM82138,ABM85321 Hs.549577 FLJ45759|MGC5509 protein-coding 1604753 C2orf50 chromosome 2 open reading frame 50 12477932 130813 NM_182500,AC062028,CH471053,AK057872,AK292828,BC120930 NP_872306,EAX00943,EAX00944,BAB71603,BAF85517,AAI20931,Q96LR7 Hs.406894 FLJ25143|MGC149401 protein-coding 1602971 C2orf51 chromosome 2 open reading frame 51 17091336,16189514,12477932 200523 BC029522,CR607082,NM_152670,AC104134,CH471215,AK058098 BAB71663,AAH29522,Q96LM6,NP_689883,AAY24330,EAW77070 Hs.132104 FLJ25369|TSC21 protein-coding 1605277 C2orf52 chromosome 2 open reading frame 52 12477932 151477 AC017104,CH471063,BC033054,NM_173513 AAY24248,EAW70965,AAH33054,Q8N535,ABM82565,ABM85754,NP_775784 Hs.375211 MGC43122 protein-coding 1602815 C2orf53 chromosome 2 open reading frame 53 16344560,12477932 339779 NM_178553,AC013403,CH471053,AA812952,BC045671,BX118458,DB022743,DB052016,DB336367 NP_848648,AAX93171,EAX00625,AAH45671,Q53SZ7 Hs.136555 MGC44505 protein-coding 1605342 C2orf54 chromosome 2 open reading frame 54 14702039,12477932 79919 BC125155,NM_001085437,NM_024861,AC104809,CH471063,AK026324,AK055735,AK056601,AK096434,BC125154 AAI25156,Q08AI8,NP_001078906,NP_079137,AAY24169,EAW71218,EAW71219,EAW71220,BAB15445,AAI25155 Hs.193745 FLJ22671|MGC150431|MGC150432 protein-coding 1602270 C2orf55 chromosome 2 open reading frame 55 12477932 343990 NM_207362,AC084377,CH471127,BC068277,BM922097,CF593294 NP_997245,EAX01894,EAX01895,AAH68277,Q6NV74 Hs.469398 MGC42367 protein-coding 1602217 C2orf56 chromosome 2 open reading frame 56 12477932 55471 NM_001083946,AC007390,CH471053,BC004548,BC012374,BC035265,BC065206,BI334629,BM172474,BX538031,CR609871,NM_144736 NP_653337,NP_001077415,AAY14816,EAX00400,EAX00401,EAX00402,AAH04548,AAH12374,CAD97976,Q7L592 Hs.433466 PRO1853 protein-coding 1606945 C2orf57 chromosome 2 open reading frame 57 12477932 165100 BC034405,BC024251,BC063389,AC104634,CH471063,NM_152614 AAH24251,AAH34405,AAH63389,Q53QW1,ABM82214,ABM85398,AAY24071,EAW70967,NP_689827 Hs.98104 MGC35154 protein-coding 1602821 C2orf58 chromosome 2 open reading frame 58 12477932 285154 BC031410,NM_173652,AC009229,CH471053 EAX00378,EAX00379,EAX00380,AAH31410,Q8N0T5,NP_775923,AAY15040 Hs.353894 MGC34824|mgc34824 hypothetical protein mgc34824 protein-coding 1602308 C2orf59 chromosome 2 open reading frame 59 12477932,8889548 112597 XR_042051,XR_042052,AC068491,AC133644,CH878354,BC009508,BC010491,BC070202,BC073906,BM989746,CF129206 AAY24059,AAY24009,EAW50475,AAH09508,AAH10491,AAH70202,Q6NSF0,Q969Y7,Q96C48 Hs.652166 MGC17532|MGC4677|MGC88182 miscrna 1604998 C2orf60 chromosome 2 open reading frame 60 15146197,12477932,8889548 129450 CN261486,NM_001039693,NR_004862,AC097717,CH471063,AK095272,AK293064,BC025758,BC063502,BC132835,BM673915,BX482572,BX647677,BX648265 A2RUC4,NP_001034782,AAY24162,EAW70191,EAW70192,EAW70193,EAW70194,BAC04517,BAF85753,AAH63502,AAI32836 Hs.204619 FLJ37953|MGC70509 protein-coding 1602960 C2orf61 chromosome 2 open reading frame 61 14702039 285051 NM_173649,AC073283,CH471053,AK097491 NP_775920,AAY24084,EAX00224,EAX00225,BAC05075,Q8N801 Hs.531575 FLJ40172 protein-coding 1602043 C2orf62 chromosome 2 open reading frame 62 12477932 375307 NM_198559,AC021016,CH471063,BC052750,CR602769 NP_940961,EAW70610,AAH52750,Q7Z7H3 Hs.645453 MGC50811 protein-coding 1606727 C2orf63 chromosome 2 open reading frame 63 14702039,12477932 130162 NM_152385,AC012358,AC093165,CH471053,AK056000,BC029502,BC036908 AAH36908,Q8NHS4,Q96N41,NP_689598,AAY24030,EAX00111,EAX00112,EAX00113,EAX00114,BAB71069,AAH29502 Hs.468590 FLJ31438 protein-coding 1604134 C2orf64 chromosome 2 open reading frame 64 12477932 493753 NM_001008215,AC010134,CH471127,AK131034,BC047722,CR590322 NP_001008216,AAX93231,EAX01903,AAH47722,Q86WW8 Hs.596537 6330578E17Rik|MGC52110 protein-coding 1604532 C2orf65 chromosome 2 open reading frame 65 16881047,16189514,12477932 130951 NM_138804,AC005033,AC007387,CH471053,AK126374,AK130161,BC014602,BC025997 NP_620159,AAX93225,EAW99609,EAW99610,EAW99611,BAC85295,AAH14602,AAH25997,Q6ZP30,Q8TC57,Q96L07 Hs.348645 D6Mm5e|FLJ44410 protein-coding 1602399 C2orf66 chromosome 2 open reading frame 66 12975309 401027 NM_213608,AC012486,CH471063,AY358249,BC137150,BC137151 NP_998773,EAW70135,AAQ88616,AAI37151,AAI37152,Q6UXQ4 Hs.372069 UNQ6411 iids6411 protein-coding 1606446 C2orf67 chromosome 2 open reading frame 67 14702039,12477932,12107410,8889548 151050 NM_152519,AC006994,AC007038,CH471063,AI679696,AK056911,AK074441,AK124324,AK124963,AL133053,BC032837,BC070141,BC090854,BC126155,BM974116,BQ441909,BQ948513,CA393360 NP_689732,AAY14880,AAX93088,EAW70475,EAW70476,EAW70477,EAW70478,EAW70479,BAB71308,CAB61379,AAH32837,AAH70141,AAI26156,A0AUZ9,BAB85085 Hs.282260,Hs.591638 FLJ23861 protein-coding 1352558 C2orf7 chromosome 2 open reading frame 7 15498570,15489334,12975309,12477932 84279 NM_032319,AC010913,CH471053,AY358605,BC005069,CR593988,CR610884 NP_115695,AAX88901,EAW99742,EAW99743,AAQ88968,AAH05069,Q2Z1P2,Q9BSG0 Hs.61268 GDB:11510668 MGC13004|PAP21 protein-coding 735504 C3 complement component 3 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. People with C3 deficiency are susceptable to bacteria infection. 1600604,1580863,1580273 9164946,162484,10085065,279011,6912277,12878586,15199963,18383369,18247123,18174230,18061265,18054386,18039528,17767156,3052276,17762737,17684013,17634448,17520688,17502296,17498719,17482181,17372315,17322907,17172439,17060630,17051160,17051152,17051150,16893076,16889542,16823297,16809564,16670774,16627066,16570073,16516157,16449793,16355111,16339538,16335952,16301317,16263699,16199891,16177781,16148115,16148107,15872081,15833747,15810889,15749882,15713468,15713467,15648851,15590640,15489226,15383607,15381670,15342556,15278436,15241561,15187133,15090635,15033778,14760718,14702039,14662858,14639503,14563826,14527961,12967641,12942785,12893820,12816955,12761187,12754519,12679444,12645945,12511407,12477932,12165538,12006395,11979403,11939578,11896391,11854358,11813855,11803045,11785295,11773063,11684127,11513971,11387479,11367533,11342658,11086104,11073102,11058592,10946275,10882776,10622723,10610782,10608878,10382758,10358196,10079271,10078261,9988761,9719152,9605165,9596584,9291131,8943712,8845016,8702752,8648130,8416818,8406564,7961791,7539791,7512600,6203109,6175959,4097977,4062888,3871945,3546307,3488995,3421908,3279119,3260670,2824652,2584723,2579379,2473125,2387584,1976733,1861080,1830068,1717583,1703437,1577777,1531292,1401896,1350678,1323007,1238393,695691,7893437,8630395,8471312,9544576,7535292,7911492,7642209,7590866,11884542 1600604,1580273 718 NM_000064,AC008760,AY513239,CH471139,CQ985770,J04763,M63423,AI758500,AK094728,BC022897,BC063852,BC150179,BC150200,BC150299,BP201387,BP349355,CR599189,CR619237,K02765,M55658 NP_000055,AAR89906,EAW69070,EAW69071,CAI46844,AAA35722,AAI50180,AAI50201,AAA85332,P01024,Q6LDJ0 Hs.529053 GDB:119044 ARMD9|ASP|CPAMD1 protein-coding 1353843 C3AR1 complement component 3a receptor 1 1580863 11160252,11044372,10725738,10358194,10340761,9725198,9694514,9373149,9221749,8605247,8125298,8702752,8765043,8898085,10571060,17498719,17472841,17234193,16778800,15489334,15356170,15278436,15067069,15039137,12871936,12511407,12477932,11412308,11342658 719 AB065870,NM_004054,AC006511,AY268431,AY455929,CH471116,AK223388,AK290242,BC020742,CR590169,CR591233,CR601349,CR609272,CR623914,U28488,U62027,Z73157 NP_004045,BAC06088,AAP23198,AAR13862,EAW88640,EAW88641,BAD97108,BAF82931,AAH20742,AAC50374,AAC50657,CAA97504,Q16581,Q53FA1,ABM82930,ABM86123,ABM87839 Hs.591148 GDB:5892182 AZ3B|C3AR|HNFAG09 protein-coding 1343619 C3CER1 chromosome 3 common eliminated region 1 9408748,10610706 23739 GDB:11505033 1351318 C3orf1 chromosome 3 open reading frame 1 11256614,16381901,15489336,15489334,12975309,12477932,11230166,11092749,11076863,9373149,8125298 51300 NM_016589,AC073352,CH471052,AF139077,AF210057,AK026250,AK225954,AL136622,AL390077,AL390090,AL390094,AY358633,BC012341,BG705703,CB105366,CR457158,CR533524,CR591661,CR598226,CR600956,CR601243,CR609519,CR611920,CR619583 NP_057673,EAW79566,EAW79567,EAW79568,EAW79569,AAF62372,AAG43510,CAB66557,CAB98201,CAB98212,CAB98251,AAQ88996,AAH12341,CAG33439,CAG38555,Q9NPL8,CAL38508 Hs.477287 GDB:11504784 FLJ22597 protein-coding 1352437 C3orf10 chromosome 3 open reading frame 10 12181570,9463375,8605018,17311301,15489334,15048733,14695531,12477932 55845 NM_018462,AC034193,CH471055,AF161418,AF220047,AK290580,AY148219,AY148220,BC001067,BC007929,BC019303,BC061515,CR599658,CR605267,CR607817,CR621273,CR624427 NP_060932,EAW64060,EAW64061,EAW64062,AAF28978,AAF67640,BAF83269,AAN60161,AAN60162,AAH01067,AAH07929,AAH19303,Q8WUW1,Q9HB48,Q9NZ47,ABM83882,ABM87202,ABW03861 Hs.649307,Hs.707283 HSPC300|MDS027|hHBrk1 protein-coding 1347639 C3orf14 chromosome 3 open reading frame 14 737633 15489334,12477932,10931946 737633 57415 NM_020685,AC092502,CH471055,AF236158,BC017772 NP_065736,EAW65400,EAW65401,EAW65402,AAG09750,AAH17772,Q9HBI5 Hs.47166 HT021 protein-coding 1346781 C3orf15 chromosome 3 open reading frame 15 12223483,11701469,8889548,15863901,14702039,14551891,12692006,12477932 89876 NM_033364,AC069444,AC117466,AF364606,AB063296,AB063297,AB063298,AF440403,AF497717,AK055558,AK289914,AL133066,BC035248,BC126394,BU689679,BX647600,CA950011,CB241685,CR749242,DB445414 NP_203528,BAB60902,BAB60903,BAB60904,AAP97317,AAM19218,BAF82603,CAB61389,AAH35248,AAI26395,CAH18098,A0AVK2,Q4G0Y0,Q7Z4T9,Q9UFB4 Hs.341906 AAT1|AAT1alpha|DKFZp781A2221 protein-coding 1348688 C3orf16 chromosome 3 open reading frame 16 389161 XM_001132074,XM_001131739,AK027233 XP_001132074,XP_001131739 Hs.665988 protein-coding 1352471 C3orf17 chromosome 3 open reading frame 17 737633 16565220,15489334,14702039,12477932 737633 25871 NM_001025072,NM_001025073,NM_015412,AC074044,CH471052,AK024325,AK092546,AL117573,AL537045,BC014673,BC056663,BC067743,BM152568,CR599053,CR620903,CR622802,CR749341 NP_001020243,NP_001020244,NP_056227,EAW79648,EAW79649,EAW79650,EAW79651,BAB14885,CAB55998,AAH67743,CAH18194,Q6NW34 Hs.591288 DKFZP434F2021 protein-coding 1343802 C3orf18 chromosome 3 open reading frame 18 737633 15489334,12477932 737633 51161 NM_016210,AC096920,CH471055,AF188706,AK124438,AK130227,AL833938,BC034766 NP_057294,EAW65122,EAW65123,EAW65124,AAF01050,BAC85307,CAD38793,AAH34766,Q6ZP18,Q9UK00 Hs.517860 G20 protein-coding 1348248 C3orf19 chromosome 3 open reading frame 19 737633 16189514,15489334,15342556,14702039,12477932,11042152 737633 51244 NM_016474,AC090952,CH471055,AF151046,AI797763,AK091158,BC005199,BC013999,BC033897,BF698254,BP195134,CR618061 NP_057558,EAW64203,AAF36132,AAH13999,AAH33897,Q6PII3,Q9P0R4 Hs.517820 FLJ33839 protein-coding 1343380 C3orf20 chromosome 3 open reading frame 20 737633 11256614,16381901,15489336,15489334,12477932,11230166,11076863 737633 84077 NM_032137,AC090957,CH471055,AK131481,AL136781,AL834386,BC030599,BC038406 NP_115513,EAW64204,EAW64205,EAW64206,BAD18626,CAB66715,CAD39049,AAH30599,AAH38406,Q0JTP7,Q0JUV3,Q6ZMU9,Q8ND61,CAL37708,CAL37860,CAL38115 Hs.661452 DKFZP434N1817 protein-coding 1345440 C3orf21 chromosome 3 open reading frame 21 737633 16344560,16303743,15489334,14702039,12477932 737633 152002 NM_152531,AC090018,AC106705,CH471052,CS051443,AK057046,AK075551,AK092474,BC019036,BC039067,CR591622,CR614018,CR626411,DA575404 NP_689744,EAW78028,EAW78029,EAW78030,CAI72215,BAB71355,BAC11694,BAC03899,AAH19036,AAH39067,Q8NBI6 Hs.478741 FLJ35155 protein-coding 1603560 C3orf22 chromosome 3 open reading frame 22 15489334,14702039,12477932 152065 NM_152533,AC024558,CH471052,AK097841,BC032025 NP_689746,EAW79358,AAH32025,Q8N5N4 Hs.178210 MGC34728 protein-coding 1605240 C3orf23 chromosome 3 open reading frame 23 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 285343 NM_001029840,NM_173826,NM_001029839,AC104187,AC134943,CH471055,AK056593,AK123680,AK124087,AK292756,AL832473,AL833118,BC009400,BC038420,BC047231,BC062587,BC073829,BC101058,BC101059,BC101060,BC101061,DC413255 NP_001025011,NP_776187,NP_001025010,EAW64703,EAW64704,EAW64705,EAW64706,BAF85445,CAD38627,AAH09400,AAH38420,AAH47231,AAH62587,AAH73829,AAI01059,AAI01060,AAI01061,AAI01062,Q0JTC8,Q0P5T9,Q4G0M4,Q8N3R3,CAL38235 Hs.55131 DKFZp313N0621|FLJ41686|MGC119530|MGC119531|MGC119532|MGC119533 protein-coding 1603367 C3orf24 chromosome 3 open reading frame 24 15489334,12477932 115795 NM_173472,NG_007311,AC034193,CH471055,AF230334,AY248899,BC028122 NP_775743,EAW64059,AAL05979,AAP20050,AAH28122,Q96PS1 Hs.190413 MGC40179 protein-coding 1602666 C3orf25 chromosome 3 open reading frame 25 15489334,14702039,12477932 90288 NM_207307,AL449212,CH471052,AK096099,AK127968,AL133011,BC031104,BC066975 NP_997190,EAW79256,EAW79257,CAH10712,AAH66975,Q6NXP0 Hs.652347 protein-coding 1601841 C3orf26 chromosome 3 open reading frame 26 15489334,14702039,12477932 84319 Q9BQ75 NM_032359,AC024938,AC069222,AC117419,AC129803,AC130887,AK124387,BC006475,BC006512,CR594335 NP_115735,AAH06475,AAH06512,Q9BQ75 Hs.655111 MGC4308 protein-coding 1603406 C3orf27 chromosome 3 open reading frame 27 15067727,9307271 23434 NM_007354,AC080005,AF008191,CH471052,AF008192 NP_031380,AAB65247,EAW79310,AAB65248,O15544,AAI40212,AAI46514 Hs.194283 GR6 protein-coding 1603057 C3orf28 chromosome 3 open reading frame 28 16698020,15489334,15082785,14702039,12477932,11085516 26355 NM_014367,AC083798,CH471052,AF107495,AF191020,AF201944,AF250321,AK026030,AK125835,BC010896,BC015060,BI460077,CR597309,CR603838,CR605172 NP_055182,EAW79486,AAG39275,AAF09484,AAF86880,AAG44569,AAH10896,AAH15060,Q96A26,Q9H2P1 Hs.584881 E2IG5|HGTD-P protein-coding 1606145 C3orf30 chromosome 3 open reading frame 30 14702039 152405 NM_152539,AC083800,CH471052,AK057421,BC130475 NP_689752,EAW79578,BAB71478,AAI30476,Q96M34 Hs.632574 FLJ32859 protein-coding 1602301 C3orf31 chromosome 3 open reading frame 31 15489334,14702039,12477932,11230166 132001 NM_138807,AC090939,AC090958,AL136788,CH471055,AK092776,AK126587,BC015088,CR615506 NP_620162,EAW64108,EAW64109,EAW64110,EAW64111,EAW64112,EAW64113,EAW64114,AAH15088,Q96BW9 Hs.475472 DKFZp434E0519|MGC16471 protein-coding 1603044 C3orf32 chromosome 3 open reading frame 32 15489334,14702039,12477932,9373149 51066 NM_015931,AC034187,CH471055,AB024705,AK057972,AK093066,AK122938,AK225925,BC025690,BC052614,CR614756 NP_057015,EAW63941,EAW63942,EAW63943,BAA76932,AAH52614,Q9Y2M2 Hs.561182 fls485 protein-coding 1605242 C3orf33 chromosome 3 open reading frame 33 15489334,14702039,12477932 285315 NM_173657,AC104472,CH471052,AF115515,AK055701,AK289890,AL832165,BC042198,BC064898 NP_775928,EAW78745,EAW78746,AAO06952,BAB70989,BAF82579,AAH42198,AAH64898,Q6P1S2,Q96NB5 Hs.350846 FLJ31139 protein-coding 1602846 C3orf34 chromosome 3 open reading frame 34 16189514,15489334,14702039,12477932 84984 NM_032898,AC055725,AK058155,AY099509,BC007827 NP_116287,BAB71691,AAM47487,AAH07827,Q96LK0 Hs.334526 MGC14126 protein-coding 1605538 C3orf35 chromosome 3 open reading frame 35 16344560,16187228,15208675,12771950,12543795,12477932 339883 NM_178339,NM_178342,AC092055,AC136290,CH471055,AJ493599,AJ493600,AJ493601,AJ493602,AJ493603,AJ493604,AJ493605,BC100859,BC100860,BC100861,BC100862,BC112433,BC113895,BC132691,BC133024,DB349441 NP_848029,NP_848032,EAW64498,CAD42702,CAD42703,CAD42704,CAD42705,CAD42706,CAD42707,CAD42708,AAI12434,AAI32692,AAI33025,Q8IU91,Q8IVJ6,Q8IVJ7,Q8IVJ8 Hs.475945 APRG1 protein-coding 1602212 C3orf36 chromosome 3 open reading frame 36 15489334,14702039,12477932,9373149 80111 NM_025041,AC080128,CH471052,AK025826,AK225383,BC051274,BC064502,BC082257,BC104161,BC104162 NP_079317,EAW79157,BAB15249,AAI04162,AAI04163,Q3SXR2 Hs.287691 FLJ22173|MGC125760|MGC125761 protein-coding 1604329 C3orf37 chromosome 3 open reading frame 37 15489334,12477932,9373149,9110174,8889548,8619474 56941 NM_001006109,AC137695,CH471052,AF201934,AK025883,AK225264,AY007144,BC009993,BC010125,BC050686,BC088363,BU728549,NM_020187 NP_064572,NP_001006109,EAW79265,EAW79266,AAF86870,AAH09993,AAH10125,AAH50686,AAH88363,Q96FZ2,ABM84010,ABM87350 Hs.458320 DC12|MGC111075 protein-coding 1602632 C3orf38 chromosome 3 open reading frame 38 15489334,12477932 285237 NM_173824,AC128650,CH471110,AL832398,BC024188 NP_776185,EAW68858,EAW68859,EAW68860,CAI46184,AAH24188,Q5JPI3 Hs.518099 MGC26717 protein-coding 1606199 C3orf39 chromosome 3 open reading frame 39 15489334,14702039,12477932 84892 NM_032806,AC092042,CH471055,AK027472,AK092147,AK124737,BC004508,BC021220,BC060861,CR606513,CR608627 NP_116195,EAW64690,EAW64691,EAW64692,BAB55137,BAC03816,AAH60861,Q8NAT1 Hs.12313 AGO61|FLJ14566 protein-coding 1606802 C3orf41 chromosome 3 open reading frame 41 14702039,12477932 26172 XM_934352,XM_942129,NM_015673,AC092042,AC092043,CH471055,AK130974,BC041820,BC062786,BC103985,BC103986,BC103987,BC118551,BC118662,DB458286 XP_939445,XP_947222,NP_056488,EAW64686,EAW64687,AAI18552,AAI18663,Q0VFW9,Q9UFP1 Hs.146346 DKFZP434B172|FLJ27464|MGC141710 protein-coding 1606766 C3orf42 chromosome 3 open reading frame 42 12477932 84657 Q9BXV0 NM_001039102,AC022384,CH471055,AF085991,AF280797,BC015602,BC132802,BC132804 NP_001034191,EAW64073,AAK15459,AAI32803,AAI32805,Q9BXV0 Hs.302131 NAG73 protein-coding 1604495 C3orf43 chromosome 3 open reading frame 43 15489334,12477932 255798 NM_001077657,AC092933,AK123917,AK291522,AL833140,AL833443,BC118556,BC118636 NP_001071125,BAF84211,AAI18557,AAI18637,Q147U7 Hs.631933 DKFZp313B0440|FLJ41923|MGC141734|MGC141735 protein-coding 1605578 C3orf44 chromosome 3 open reading frame 44 14702039,12477932 131831 AK093375,AL834214,BC029577,BC036239,NM_152394,AC011317,CH471052 EAW78825,EAW78826,BAC04146,CAD38896,AAH29577,AAH36239,Q7L0X2,NP_689607,EAW78824 Hs.147128 MGC39662 protein-coding 1602071 C3orf45 chromosome 3 open reading frame 45 14702039,12477932,15489334 132228 NM_153215,CH471055,AK095927,BC028000 NP_694947,EAW65068,BAC04652,AAH28000,Q8N112 Hs.534543 FLJ38608 protein-coding 1604736 C3orf48 chromosome 3 open reading frame 48 12477932 151649 XM_001717727,XM_001718092,XM_001716709,AC097635,CH471055,AK058178,BC021717,BC105097,BC105099,BI463522 XP_001716761,XP_001717779,XP_001718144,EAW64304,BAB71705,AAI05098,AAI05100,A8MPX8,Q2M2Y9 Hs.585048 FLJ25449 protein-coding 1602072 C3orf49 chromosome 3 open reading frame 49 15489334,12477932 132200 Q96BT1 XM_001132201,XM_001132853,BC015210 XP_001132201,XP_001132853,AAH15210,Q96BT1 Hs.506386 MGC17310 protein-coding 1603594 C3orf50 chromosome 3 open reading frame 50 12477932 93556 XM_001726230,XM_001725917,XM_001723648,NR_021485,AC058333,AC092954,AF086185,BC011266,BC103698,BC104748,BC105689,BC105690 XP_001726282,XP_001725969,XP_001723700,AAI05691,Q0D2K5 Hs.478158 miscrna 1350595 C3orf51 chromosome 3 open reading frame 51 This gene is a putative tumor suppressor gene. 9653645,12477932 711 U88965,BC069453,BC074933,BC074934 AAC39932,AAH69453,AAH74933,AAH74934,O76042,Q6NT35 Hs.667161,Hs.690004 GDB:9557978 C1orf1|Po42 protein-coding 1606226 C3orf52 chromosome 3 open reading frame 52 16344560,15737651,15489334,14702039,12477932 79669 NM_024616,AC024887,AC128688,CH471052,AA215562,AK026839,AY830714,BC017064,BX104180,DB159226 NP_078892,EAW79681,BAB15569,AAX21411,AAH17064,Q49AB3,Q5BVD1 Hs.434247 FLJ23186|TTMP protein-coding 1602414 C3orf53 chromosome 3 open reading frame 53 14702039 285322 Q8N290 XM_928239,AC109586,AK090970 XP_933332,BAC03560,Q8N290 Hs.376725 FLJ33651 protein-coding 1602805 C3orf54 chromosome 3 open reading frame 54 15489334,12477932 389119 Q96EL1 AC139451,CH471055,BC012170,NM_203370 NP_976248,EAW65022,AAH12170,Q96EL1 Hs.86674 MGC20416 protein-coding 1601717 C3orf55 chromosome 3 open reading frame 55 12477932 152078 NM_001099777,AC084212,BC010062,BC029129,BC126187,BC126189 NP_001093247,AAH29129,AAI26188,AAI26190,A1A4F0,Q8N6Q6 Hs.259046 protein-coding 1602415 C3orf56 chromosome 3 open reading frame 56 14702039 285311 NM_001007534,AC112482,AK097460,BC137154,BC137155 NP_001007535,BAC05062,AAI37155,AAI37156,Q8N813 Hs.591284 FLJ40141 protein-coding 1605564 C3orf57 chromosome 3 open reading frame 57 15777716,15489334,12477932 165679 NM_001040100,AC112491,CH471052,AF458592,AK123348,BC037817,BC065208,BC071875,BC107756,BC126236,BU950276,BU950567 NP_001035189,EAW78615,EAW78616,EAW78617,AAM49720,BAC85589,AAH65208,AAH71875,AAI07757,AAI26237,Q6ZWB5,Q8NFR3 Hs.369104 ADMP|MGC104229 protein-coding 1603352 C3orf58 chromosome 3 open reading frame 58 15489334,14702039,12477932 205428 NM_173552,AC117379,CH471052,AK025119,AK095063,AK095161,AK095400,AL832839,BC037293 NP_775823,EAW78946,EAW78947,EAW78948,AAH37293,Q8NDZ4 Hs.288954 MGC33365 protein-coding 1601820 C3orf59 chromosome 3 open reading frame 59 15489334,14702039,12477932 151963 NM_178496,AC090025,AC117416,CH471052,AK002025,AK056276,AK290447,BC013123,BC036194,BC045582,BX648517,CR604177 NP_848591,EAW78082,EAW78083,BAF83136,AAH13123,AAH36194,AAH45582,Q8IYB1 Hs.151443 protein-coding 1601767 C3orf60 chromosome 3 open reading frame 60 This gene encodes a nuclear protein of unknown function. The similar rat nuclear protein is predominantly expressed in testis. Alternatively spliced transcript variants encoding different isoforms have been identified. 15489334,15231747,12653254,12477932,11256614,9349717,8889548,16189514 25915 BC002873,BC111004,BM354128,BM559881,BM985326,BQ652614,CD358942,NM_199074,NM_199073,NM_199417,NM_199069,NM_199070,AC137630,CH471055,AA907148,AL049955 AAH02873,NP_951056,NP_951047,NP_955449,NP_951032,NP_951033,EAW64942,EAW64943,EAW64944,EAW64945,CAB43224,Q9BU61,Q9Y3Z0 Hs.31387 2P1|DKFZP564J0123|E3-3|MGC10527 protein-coding 1602042 C3orf62 chromosome 3 open reading frame 62 15489334,14702039,12477932 375341 NM_198562,AC121247,CH471055,AK056215,AK096799,AK125642,BC023586,BC053629,BC061697 NP_940964,EAW64967,BAC86231,AAH23586,AAH53629,AAH61697,Q6ZUJ4 Hs.403828 FLJ43654|MGC23381|MGC61663|MGC62079 protein-coding 1604038 C3orf63 chromosome 3 open reading frame 63 14702039,12477932,12421765,11149944,10470851 23272 NM_001112736,AC099781,CH471055,AB029028,AF180425,AF273053,AK094486,BC014569,BC029354,BC070096,BC129987,BI559851,BX648955,NM_015224 NP_056039,NP_001106207,EAW65319,EAW65320,EAW65321,EAW65322,EAW65323,EAW65324,BAA83057,AAD55098,AAG34913,AAI29988,Q9UK61 Hs.116877 DKFZp686C2456|KIAA1105|RAP140|se89-1 protein-coding 1602633 C3orf64 chromosome 3 open reading frame 64 14702039,12477932 285203 AK023140,AK091089,AK123213,AK126187,AK290356,AL833467,BC028935,BC060887,BX640821,BX648818,NM_173654,AC109587,AJ868234 BAB14424,BAC86479,BAF83045,AAH28935,AAH60887,CAE45897,Q5NDL2,Q8N329,Q9H919,NP_775925,CAI30569 Hs.518059 AER61|FLJ13078|FLJ33770|FLJ41219|MGC34132 protein-coding 1602599 C3orf65 chromosome 3 open reading frame 65 14702039 646600 NM_001039788,AC016961,AC108670,CH471052,AK057462 NP_001034877,EAW78212,BAB71499,Q96M15 Hs.647949 FLJ32900 protein-coding 1605264 C3orf67 chromosome 3 open reading frame 67 12477932 200844 NM_198463,AC104300,AC104303,AC119424,CH471055,AK124111,AK124920,AK128200,BC050317,BC075863,BC132815,BC140002 NP_940865,EAW65383,EAW65384,EAW65385,EAW65386,EAW65387,EAW65388,EAW65389,EAW65390,EAW65391,BAC85775,BAC85994,AAH50317,AAI32816,Q499Z6,Q6ZVT6 Hs.368434 FLJ42117|FLJ42930|MGC48416 protein-coding 1606956 C3orf68 chromosome 3 open reading frame 68 12477932 152100 AF086095,BC052644,BX648671,CR749370,NM_182523,AC092503,AC098616,CH471055 AAH52644,CAH18223,Q7Z7K0,NP_872329,EAW64390,EAW64391 Hs.444724 DKFZp779D0833|MGC61571 protein-coding 1350864 C4A complement component 4A (Rodgers blood group) This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. 16098595,15998580,15794202,15787745,15166556,15039137,14760718,14574404,12894949,12754519,12480675,12477932,12367531,12226794,12224044,12133986,11803045,11367523,11168010,10529130,10092831,16439442,16335952,10072631,9725198,8660986,8589688,8473511,8422437,8132574,8012361,7545960,7518568,6978711,162484,6019133,12878586,15199963,18069935,18058064,18054386,17921792,17728371,17503323,17257223,17212707,16908004,16893076,6950384,6881182,6832377,6577433,6572000,6559257,6546707,6316164,6167582,3944109,3838531,3696167,3542363,3264881,2883116,2612324,2431902,2304899,1988494,1699796,1573268,11773063 720 NM_007293,NG_004658,AL645922,AL844853,AL929593,AY224378,AY379864,AY379866,AY379880,AY379881,AY379882,AY379885,AY379887,AY379888,AY379889,AY379890,AY379891,AY379892,AY379893,AY379894,AY379895,AY379896,AY379897,AY379898,AY379899,AY379900,AY379902,AY379904,AY379906,AY379908,AY379912,AY379913,AY379914,AY379915,AY379916,AY379917,AY379883,AY379918,AY379919,AY379920,AY379921,AY379922,AY379923,AY379928,AY379929,AY379930,AY379931,AY379932,AY379933,AY379934,AY379935,AY379960,AY379961,AY379962,AY379963,AY379964,AY379965,AY379966,AY379967,AY379968,AY379969,AY379970,AY379971,L26261,M14823,M14824,M59815,M59816,S58715,U07851,U07852,U07853,U07855,X77491,AB209989,AI065121,BC012372,BC016933,BC063289,BC146673,BC146849,BC151204,BX452374,K00830,K02403,S81585,V00502 NP_009224,CAQ09284,CAI41869,CAI41782,AAP83249,AAR89091,AAR89093,AAR89107,AAR89108,AAR89109,AAR89110,AAR89112,AAR89114,AAR89115,AAR89116,AAR89117,AAR89118,AAR89119,AAR89120,AAR89121,AAR89122,AAR89123,AAR89124,AAR89125,AAR89126,AAR89127,AAR89130,AAR89132,AAR89134,AAR89136,AAR89139,AAR89140,AAR89142,AAR89141,AAR89144,AAR89145,AAR89146,AAR89148,AAR89147,AAR89150,AAR89149,AAR89155,AAR89156,AAR89157,AAR89158,AAR89143,AAR89160,AAR89161,AAR89162,AAR89164,AAR89165,AAR89166,AAR89167,AAR89168,AAR89169,AAR89170,AAR89171,AAR89172,AAR89173,AAR89159,AAR89174,AAR89175,AAA20121,AAA35617,AAA52292,AAA51855,AAB26211,AAB63418,AAB63419,AAB63420,AAB63422,CAA54627,BAE06071,AAH12372,AAH63289,AAI46674,AAI46850,AAI51205,AAA36229,AAB59537,AAB36122,CAA23760,P0C0L4,Q30211,Q4LE82,Q5JNX0,Q5JNX2,Q5ST67,Q6P4R1,Q6U2E0,Q6U2E5,Q6U2E7,Q6U2E8,Q6U2F0,Q6U2F3,Q6U2F4,Q6U2F6,Q6U2F8,Q6U2I5,Q6U2K2,Q6U2L1,Q6U2L7,Q6U2L9,Q6U2M5,Q6XMI6,Q96EG2,Q9UCE5,Q9UM89,Q9UMV1 Hs.534847 GDB:119732 C4|C4A2|C4A3|C4A4|C4A6|C4S|CO4|CPAMD2|MGC164979|RG complement component 4a protein-coding 1605129 C4B complement component 4B (Childo blood group) This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. 18365397,18315707,18179706,18085389,18032375,17984207,15033778,14989716,14760718,14574404,12907438,12893820,12754519,12480675,12477932,12226794,12224044,11803045,11367523,11341920,11168010,11062289,10946278,10851272,10528211,10383431,10207042,10072631,9759862,8889548,8660986,8575831,8132574,7545960,7525470,6978711,6950384,6881182,6832377,6559257,6546707,6167582,3944109,3840370,3696167,3542363,2883116,2431902,2295627,17921792,17915330,17728371,17503323,17425651,17318071,17257223,17212707,17202363,17015733,16980082,16908004,16893076,16889542,16740002,16504674,16386506,16344560,16098595,15998580,15816885,15787745,15665772,15456488,15203218,15096498,1988494,1717583,1699796,1088823,7893437,7642209,8630395,7911492,7590866 721 U77887,BM672834,BQ960796,CD624022,DA395398,DA918359,K02404,AY379907,AY379909,AY379910,AY379911,AY379924,AY379925,AY379926,AY379927,AY379959,U24578,U77886,NM_000592,NG_000013,NG_004658,NG_005163,AF019413,AF092085,AL049547,AL645922,AL662849,AL844853,AL929593,AY343497,AY379860,NM_001002029,AY379862,AY379863,AY379865,AY379867,AY379868,AY379869,AY379870,AY379871,AY379872,AY379873,AY379874,AY379875,AY379876,AY379877,AY379878,AY379879,AY379884,AY379886,AY379901,AY379903,AY379905,AY379861 AAK49811,AAA59651,P0C0L5,Q6U2E0,Q6U2E5,Q6U2F3,Q6U2F4,Q6U2F6,Q6U2G0,Q6U2G1,Q6U2H4,Q6U2I5,Q6U2L1,Q6U2L6,Q6U2L7,Q6U2L9,Q6U2M2,Q6U2M5,Q6VCV8,Q6XMI6,Q96SA7,Q96SA8,Q9UCE5,Q9UMV1,Q9UNU2,AAR89133,AAR89135,AAR89138,AAR89137,AAR89151,AAR89152,AAR89153,AAR89154,AAR89163,AAA99717,AAK49810,AAR89131,NP_001002029,NP_000583,AAB67980,AAC98380,CAB89302,CAQ09289,CAI17475,AAQ99144,AAR89087,AAR89088,AAR89089,AAR89090,AAR89092,AAR89094,AAR89095,AAR89096,AAR89097,AAR89098,AAR89099,AAR89100,AAR89101,AAR89102,AAR89103,AAR89104,AAR89105,AAR89106,AAR89111,AAR89113,AAR89128,AAR89129 Hs.534847 GDB:119733 C4A|C4A13|C4A91|C4B1|C4B12|C4B2|C4B3|C4B5|C4F|CH|CO4|CPAMD3|MGC164979 protein-coding 736103 C4BPA complement component 4 binding protein, alpha This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. 1580863 16330538,14718574,18424762,17579075,17548110,16819837,16335952,15489334,15188402,15179322,12893820,12477932,12135356,11705989,11441101,10383431,9089100,8406448,7806286,7772049,7592941,6222381,4033666,3840370,3378624,3017751,2590215,2352933,2237642,1989602,1833851,10744423,1534488 722 NM_000715,AL445493,CH471100,M62448,M62486,X04284,X04296,BC022312,BQ019292,M31452,X02865,X07853 NP_000706,CAH70782,CAO78186,EAW93500,EAW93501,EAW93502,EAW93503,AAA36506,CAB51244,CAA27839,AAH22312,AAA36507,CAA26617,CAA30701,P04003,Q5VVQ8,ABM82947,ABM86139 Hs.1012 GDB:120568 C4BP|PRP protein-coding 1342759 C4BPAL1 complement component 4 binding protein, alpha-like 1 8406448,2352933 727859 NG_006475,AL445493 GDB:128160 pseudo 1345971 C4BPAL2 complement component 4 binding protein, alpha-like 2 7806286 724 NG_002761,AL596218,X81360,X81361,X81362 GDB:462444 pseudo 736875 C4BPB complement component 4 binding protein, beta This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. 1580863 8325877,14718574,17597997,16710414,16335952,16330538,15967823,15489334,15179322,14702039,12492479,12477932,12193728,9089100,8598458,7561113,2970465,2300577,2237642 725 NM_001017365,NM_001017366,NM_000716,NM_001017364,NM_001017367,AL445493,CH471100,EF613556,L11246,U31765,AK092427,BC005378,BG568018,BM987840,CR598788,CR625432,H63461,L11245,M29964 NP_001017365,NP_001017366,NP_000707,NP_001017364,NP_001017367,CAH70779,CAH70780,CAH70781,EAW93504,EAW93505,EAW93506,ABQ52216,AAH05378,AAA35616,AAB59520,P20851,Q5VVQ7 Hs.99886 GDB:125208 C4BP protein-coding 1351743 C4orf10 chromosome 4 open reading frame 10 12477932,9734812 317648 BC041605,CH471131,AB000464,AB000465,AB000466,BC020978 AAH20978,Q8WUA6,EAW82495 Hs.398178 RES4-24 miscrna 1342528 C4orf11 chromosome 4 open reading frame 11 353289 AY316301 2290199 C4orf12 chromosome 4 open reading frame 12 15580561,14702039,12477932,12136098 404201 BC033127,BC101193,BC101194,BC101195,BC101196,CR610085,XR_042111,XM_001127544,XR_042113,XR_042112,NR_015359,AC108021,AJ333364,CH471057,AK124663,AY250185,BC019264 AAH33127,Q6X854,Q8N507,XP_001127544,EAX05957,EAX05958,AAP76295 Hs.46730 FBI4|MGC120078|MGC120079 miscrna 1354431 C4orf14 chromosome 4 open reading frame 14 737633 15489334,14702039,12477932,16380119 737633 84273 NM_032313,AC069307,CH471057,AK074953,AK098215,AK128696,BC004894,CR599445 NP_115689,EAX05518,BAC11311,BAC05262,AAH04894,Q8NC60,ABM82785,ABM85974 Hs.8715 MGC3232|hAtNOS1|mAtNOS1 protein-coding 1312658 C4orf15 chromosome 4 open reading frame 15 737633 14702039,12477932 737633 79441 NM_024511,AL158068,CH471131,AF040964,AK056134,BC003648,BC025356,CR749640 NP_078787,EAW82537,AAB97010,AAH03648,AAH25356,CAH18434,Q68CZ6,Q8TAZ5 Hs.368454 DKFZp686I1868|IT1|MGC4701 protein-coding 1347570 C4orf16 chromosome 4 open reading frame 16 737633 11256614,16381901,15815621,15775984,15489336,15489334,15144186,12477932,11230166,11076863 737633 55435 NM_018569,AC109347,CH471057,AF116612,AL136628,BC009485,BX647702 NP_061039,AAY40962,EAX06268,EAX06269,EAX06270,EAX06271,EAX06272,AAF71037,CAB66563,AAH09485,CAH56145,Q0JSN4,Q0JTY0,Q63HQ0,CAL37652,CAL37924,CAL38032,CAL38480,CAL38584 Hs.435991 2C18|GBAR|PRO0971 protein-coding 1352720 C4orf17 chromosome 4 open reading frame 17 15489334,14702039,12477932,11230166,9373149 84103 NM_032149,AC083902,AP001960,CH471057,AK093085,AK223345,AL136838,BC069805,BC074759,CR533542 NP_115525,EAX06102,EAX06103,BAD97065,CAB66772,AAH69805,AAH74759,CAG38573,Q53FE4,Q8NA78,BAC04048 Hs.97501 DKFZP434G072 protein-coding 1605394 C4orf18 chromosome 4 open reading frame 18 16381901,15489336,14702039,12975309,12477932,11256614,11230166,11076863 51313 NM_016613,NM_001031700,AC098679,CH471056,AF223468,AF260333,AK095474,AL832589,AL834177,AY358785,BC017701,BC043193,BC045710,BC100016,CR457196,CR622045 Q9H2L6,Q9NYZ0,CAL37418,CAL37582,NP_057697,NP_001026870,EAX04863,EAX04864,AAF64143,AAG44664,CAD38874,AAQ89145,AAH17701,AAH43193,AAI00017,CAG33477,Q6UWH4 Hs.567498 AD021|AD036|DKFZp434L142|FLJ38155 protein-coding 1602474 C4orf19 chromosome 4 open reading frame 19 16344560,15342556,14702039,12477932,9373149,8125298 55286 NM_001104629,NM_018302,AC022463,AC027607,CH471069,AI050941,AK001879,AK225192,BC037906,BP220791,CF995148,CR611641,DA684897 NP_001098099,NP_060772,EAW92882,EAW92883,BAA91958,AAH37906,Q8IY42 Hs.107527 FLJ11017 protein-coding 1602323 C4orf21 chromosome 4 open reading frame 21 14702039,12477932 55345 AC023886,AK002193,BC044799,NM_018392 BAA92130,AAH44799,Q86YA3,NP_060862 Hs.380346 FLJ11331 protein-coding 1606121 C4orf22 chromosome 4 open reading frame 22 12477932 255119 NM_152770,AC021127,AC093876,AC093883,AC098822,AC105917,CH471057,AK128642,AY349359,BC034296 NP_689983,EAX05861,EAX05862,EAX05863,EAX05864,EAX05865,BAC87545,AAQ56723,AAH34296,Q6V702,ABM84123,ABM84124,ABM87151,ABM87152,ABM87153,ABM87533,ABM87534 Hs.527104 MGC35043 protein-coding 1602178 C4orf23 chromosome 4 open reading frame 23 16861910,15815621,15489334,14702039,12477932 152992 NM_152544,AC104825,AC105345,CH471131,AK022953,AK092387,AK093044,AK096417,BC035655,CR604280 NP_689757,EAW82337,BAB14328,BAC04031,AAH35655,Q8IYL2,Q8NA95,Q9H9A4 Hs.566191 FLJ12891|FLJ35725 protein-coding 1604986 C4orf26 chromosome 4 open reading frame 26 12477932 152816 NM_178497,AC096759,CH471057,AK074237,AK172776,BC117342 NP_848592,EAX05738,EAX05739,BAB85027,BAD18758,AAI17343,Q17RF5 Hs.24510 FLJ23657 protein-coding 1606274 C4orf27 chromosome 4 open reading frame 27 11256614,16381901,15489336,14702039,12477932,11230166,11076863 54969 NM_017867,AC106878,CH471056,AK000541,AK090742,AK124036,AL136673,BC010367,BM905677,CB141427,CR606119,CR607563,CR623533,DN990093 NP_060337,EAX04780,EAX04781,BAA91241,CAB66608,AAH10367,Q9NWY4,CAL37758 Hs.406756 FLJ20534|FLJ33423|FLJ42042 protein-coding 1605875 C4orf28 chromosome 4 open reading frame 28 15815621,15489334,14702039,12477932 133015 NM_145048,AC104065,CH471069,AK098692,AK291544,BC023002,CR593547,CR596178,CR610222,CR621781,CR624924,CR625835 NP_659485,AAY40910,EAW92795,EAW92796,BAC05381,BAF84233,AAH23002,Q8N7B6 Hs.479298 MGC29898 protein-coding 1604791 C4orf29 chromosome 4 open reading frame 29 12477932 80167 NM_001039717,AC099340,CH471056,AK024759,BC034253,BC058847,BC058898,BC075793,BC111400,BC128142,BC128143,BX500590,CR597196 NP_001034806,EAX05189,EAX05190,EAX05191,EAX05192,BAB14990,AAH34253,AAI28143,AAI28144,Q0P651 Hs.445817 FLJ21106|MGC149227|MGC149228 protein-coding 1603212 C4orf30 chromosome 4 open reading frame 30 14702039,12477932 54876 NM_017741,AC005768,CH471069,AK000287,AK056116,BC014536,BC050697,BC068025,BC101716,BC101718 NP_060211,EAW92784,BAA91056,AAH50697,AAH68025,AAI01717,AAI01719,Q9NXF7 Hs.655841 FLJ20280|MGC126765|MGC126767 protein-coding 1606239 C4orf31 chromosome 4 open reading frame 31 16970039,16344560,12975309,12477932 79625 NM_024574,AC105254,CH471056,AK026844,AK289615,AY358821,BC019351,BX359842,CR593973,DA807168 NP_078850,EAX05266,BAB15573,BAF82304,AAQ89180,AAH19351,Q8TB73 Hs.709520 FLJ23191 protein-coding 1606723 C4orf32 chromosome 4 open reading frame 32 18437351,14702039,12477932 132720 NM_152400,AC093663,AC109347,CH471057,AK096689,BC022534,BC041964 NP_689613,AAY40961,EAX06266,BAC04841,AAH22534,AAH41964,Q8N8J7 Hs.23439 FLJ39370 protein-coding 1601935 C4orf33 chromosome 4 open reading frame 33 17567985,14702039,12477932 132321 BU783470,BX538164,CN483524,CR605621,CR618701,NM_173487,NM_001099783,AC093826,CH471056,AK091022,BC016358,BC032582,BE566349,BP871612,BQ549846 CAD98044,Q8N1A6,NP_775758,NP_001093253,EAX05161,EAX05162,EAX05163,EAX05164,EAX05165,EAX05166,BAC03568,AAH16358,AAH32582 Hs.567679 FLJ33703 protein-coding 1606130 C4orf34 chromosome 4 open reading frame 34 15231747,15489334,14702039,12477932,16189514 201895 AC021148,AC105427,AC108471,CH471069,AK023351,BC008502,NM_174921 NP_777581,EAW92940,EAW92941,EAW92942,AAH08502,Q96QK8 Hs.576320 FLJ13289 protein-coding 1604567 C4orf35 chromosome 4 open reading frame 35 16344560,14702039,12477932 85438 NM_033122,AC106884,CH471057,AF380838,AK057459,BC034492,BC046111,BX098854,DB027445 NP_149113,EAX05615,EAX05616,AAK57455,BAB71497,AAH46111,Q0P649,Q86UE0,Q96M17 Hs.120316 FLJ32897|NYD-SP26 protein-coding 1606159 C4orf36 chromosome 4 open reading frame 36 15489334,15342556,14702039,12477932 132989 AC093827,CH471057,BC016746,BC063410,BP289794,BX090513,NM_144645 NP_653246,EAX05970,AAH16746,Q96KX1 Hs.339646 MGC26744 protein-coding 1602169 C4orf37 chromosome 4 open reading frame 37 12477932 285555 NM_174952,AC018884,AC019077,AC034154,AC073855,AC131949,CH471057,BC036870,BX648305 Q8N412,NP_777612,EAX06066,EAX06067,AAH36870 Hs.680226 MGC46496 protein-coding 1602647 C4orf38 chromosome 4 open reading frame 38 14702039,12477932 152641 NM_153008,AC019193,CH471056,AK054839,AK054840,BC126477,BC126479 NP_694553,EAX04695,BAB70812,BAB70813,AAI26478,AAI26480,Q96NR6,Q96NR7 Hs.106015,Hs.700863 FLJ30277|FLJ30278|MGC161755|MGC161757 miscrna 1602430 C4orf39 chromosome 4 open reading frame 39 14702039,12477932 152756 NM_153027,AC106872,CH471056,AK056221,BC022381 NP_694572,EAX04830,BAB71123,AAH22381,Q96MZ4 Hs.178648 FLJ31659 protein-coding 1604909 C4orf40 chromosome 4 open reading frame 40 16381901,15489336,11230166,11076863 401137 NM_214711,AC104811,BX484937,BX485867,BX640892,BX640924,BX640997,BX647183,BX647185,BX648724,BX648872,BX648895,BX648896 NP_999876,CAH56124,CAE45962,CAE46000,CAH56126,Q6MZM9,Q6MZR6,CAL38348,AAI46697 Hs.518795 protein-coding 1604800 C4orf41 chromosome 4 open reading frame 41 16381901,15489336,14702039,12477932,11230166,11076863 60684 BX648499,NM_021942,NM_199053,AC108477,CH471056,AK022778,AK023390,AK026992,AK090489,AK091146,AK096345,AL133076,AL136752,AL833451,AL833571,BC022185,BC040530,BC051724,BC139745,BX538044,BX647127,CR533553 NP_068761,NP_951008,EAX04686,EAX04687,BAB14240,BAB14556,BAB15617,CAB66686,CAD91169,AAH22185,AAH51724,AAI39746,CAD97983,CAG38584,Q0JS33,Q5U5I7,Q6FI73,Q7Z392,Q86T25,Q9H0L1,Q9H5K9,Q9H8Q1,Q9H9I7,CAL38681 Hs.443240 FLJ12716 protein-coding 1604255 C4orf42 chromosome 4 open reading frame 42 16189514,14702039,12477932 92070 NM_052861,AC092535,AK056133,AK125775,AL390154,BC013775,BC111466,BC120947,BC120948,CB070110 NP_443093,AAY40990,BAC86283,AAH13775,AAI11467,AAI20948,AAI20949,Q0VAR9,Q4W5N5,Q96CW7 Hs.561314,Hs.646099 MGC149426|MGC149427|MGC21675 protein-coding 1350555 C4orf6 chromosome 4 open reading frame 6 This gene is expressed in neuroblastoma; however, the function of this gene is not yet determined. 9016955,15489334,12477932,8889548 10141 NM_005750,AC004664,CH471131,BC117444,BC117446,BM978917,BX094519,D82070 NP_005741,EAW82415,AAI17445,AAI17447,BAA11534,Q99440 Hs.177972 GDB:9955301 aC1 protein-coding 1353265 C4orf7 chromosome 4 open reading frame 7 FDCSP is expressed by follicular dendritic cells (FDCs) and activated leukocytes during ongoing immune responses.[supplied by OMIM] 17548624,16259954,15489334,12975309,12477932,12193705 260436 NM_152997,AC105347,CH471057,AF086120,AF435080,AY190326,AY358958,BC062213 NP_694542,EAX05613,AAN01116,AAO41714,AAQ89317,AAH62213,Q540F3,Q8NFU4 Hs.320147 GDB:11510670 FDC-SP|MGC71894 protein-coding 1320077 C4orf8 chromosome 4 open reading frame 8 11169226,9734812,8946164 8603 NM_003704,AL110117,CH471131,AA905011,AB000459,AB000460,AB000461,AB001563,AF040966,BM468825,D44687 NP_003695,EAW82518,EAW82519,EAW82520,EAW82521,BAA19116,BAA19117,BAA19118,BAA31858,AAB97012,P78312 Hs.652364 RES4-22 protein-coding 735934 C5 complement component 5 The protein encoded by this gene is the fifth component of complement, which plays an important role in inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the basis for formation of the membrane attack complex, which includes additional complement components. Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to rheumatoid arthritis. 1600637,1600651,1600652,1600655,1600599,1580863,1600658,1600665,1600666,1600592,1600597 10820279,9590258,8898085,7649993,8759757,3052276,9218605,18300128,18039528,17880261,17804836,17644516,17634448,17533009,17505301,17498719,17482181,17428459,17322907,17023413,16879222,16823297,16670089,16335952,15995705,15879120,15778377,15598652,15585680,15550394,15488949,15383587,15278436,14662858,14556080,12937147,12881318,12878586,12488432,12477932,11752456,11367533,10352266,9553099,9188742,9007977,8889548,8702752,8175701,7835913,7730648,7661861,3624872,3408713,3365401,2808363,2784981,2730871,2579066,1996961,1984448,1387399,690134,106884,8630395,7911492,15768031 1600637,1600651,1600652,1600655,1600599,1600658,1600665,1600666,1600592,1600597 727 NM_001735,NG_007364,AC006430,CH471090,DQ400449,AB209031,AK310774,AK310780,AV682721,BC022299,BC113738,BC113740,BG533927,CB250401,M57729,M65134,T82068 NP_001726,EAW87480,ABD48959,BAD92268,AAI13739,AAI13741,AAA51925,AAA51856,P01031,Q59GS8,Q65ZM1,AAB35171 Hs.494997 GDB:119734 CPAMD4|FLJ17816|FLJ17822|MGC142298 protein-coding 1350810 C5AR1 complement component 5a receptor 1 1580863 10352266,7649993,8779720,8702752,9590258,2007135,18187666,17804836,17724165,17234193,17199736,17135254,17090530,17068344,17023413,16879222,16778800,16511606,16301808,15944400,15550394,15489334,15485893,15278436,15158333,15144465,15128829,15039137,14570896,12794141,12759460,12651630,12477932,12464600,12453150,12091343,11773063,11733378,11705397,11342590,10963136,9553099,8759762,8573284,8383526,7962171,7642584,7521884,1847994,1612600,2541200,10597774,16189514,15768031 728 NM_001736,AC099491,AY221091,CH471126,S56557,X58674,BC008982,BE042476,BI916506,BM830753,BT007358,M62505,X57250 NP_001727,AAO65969,EAW57470,EAW57471,AAD14919,CAB37830,AAH08982,AAP36022,AAA62831,CAA40530,P21730,ABM82683,ABM85866 Hs.2161 GDB:128856 C5A|C5AR|C5R1|CD88 complement component 5 receptor 1 (c5a ligand) protein-coding 1343214 C5orf10 chromosome 5 open reading frame 10 170747 GDB:11505348 1351571 C5orf13 chromosome 5 open reading frame 13 16484684,16229809,15489334,14702039,12477932,12417574,10981724,10660586,8261136 9315 NM_004772,AC022108,AC114297,CH471086,AF119859,AK021624,BC011050,BC019068,BC072013,BC072443,BX649051,CR590608,CR594948,CR595885,CR597011,CR600189,CR601940,CR602437,CR602516,CR605504,CR606026,CR607755,CR608957,CR610267,CR611162,CR611883,CR612701,CR618085,CR622137,CR622215,CR625954,U30521,U36189 NP_004763,EAW49019,EAW49020,EAW49021,EAW49022,EAW49023,EAW49024,EAW49025,AAF69613,AAH11050,AAH19068,AAH72013,AAH72443,AAA93255,Q16612,Q9P187,AAA74903 Hs.36053,Hs.483067 D4S114|P311|PRO1873|PTZ17 protein-coding 1321206 C5orf15 chromosome 5 open reading frame 15 16303743,15489334,14702039,12752121,12477932,9110174,8619474 56951 NM_020199,AC025177,CH471062,CS300550,AF035313,AF226055,AK074963,AY157581,BC020875,CR591352,CR608320 NP_064584,EAW62287,EAW62288,CAK32214,AAF86955,BAC11319,AAO13165,AAH20875,Q8NC54,ABM82948,ABM86140 Hs.355177 HTGN29|KCT2 protein-coding 1605576 C5orf20 chromosome 5 open reading frame 20 This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of major depression in humans. 17460725,16189510,15489334,12477932,11798177,10737800 140947 NM_130848,AC022092,AB074498,BC069608,BC069610,BC074831,BC074832,BC117156,BC117158 NP_570900,BAB84585,AAH69608,AAH69610,AAH74831,AAH74832,Q8TF63 Hs.152477 DCNP1 protein-coding 1605018 C5orf21 chromosome 5 open reading frame 21 16381901,15489336,12477932,11256614,11230166,11076863,9110174,8619474 83989 NM_032042,AC093268,AC099501,AC106818,AC108102,AC114980,CH471084,AF070617,AL136630,BC012007,BC020584 CAL37760,NP_114431,EAW96011,EAW96012,EAW96013,EAW96014,CAB66565,AAH20584,Q0JUQ1,Q0JV07,Q8WUF8,CAL37653 Hs.655651 DKFZP564D172 protein-coding 1605070 C5orf22 chromosome 5 open reading frame 22 16344560,16189514,14702039,12477932,8889548 55322 BC021215,BC032845,BM683466,DA783320,DC404356,NM_018356,AC022417,CH471118,AF085882,AI300780,AK002055,AK074385,AL834427,AV710784 AAH21215,AAH32845,Q49AR2,NP_060826,EAX10771,EAX10772,EAX10773,EAX10774,BAA92060,CAD39088 Hs.519246 DKFZp667N066|FLJ11193|FLJ23805|MGC33010 protein-coding 1606242 C5orf23 chromosome 5 open reading frame 23 11256614,15489334,14702039,12477932 79614 NM_024563,AC026703,CH471118,AK024116,BC022250 NP_078839,EAX10800,BAB14832,AAH22250,Q9H7Z1 Hs.13528 FLJ14054 protein-coding 1605291 C5orf24 chromosome 5 open reading frame 24 14702039,12477932 134553 NM_152409,AC006077,BX640771,CH471062,AJ437658,AK094881,BC045567,BC053677,BX648529 NP_689622,EAW62234,EAW62235,EAW62236,CAD26900,BAC04448,AAH53677,Q7Z6I8 Hs.406549 FLJ37562 protein-coding 1604161 C5orf25 chromosome 5 open reading frame 25 15489334,15144186,14702039,12477932 375484 BC073880,BX390643,CR602378,DC372557,NM_198567,AC138956,AC139493,AK126204,BC032390,BC037298,BC066980 AAH66980,AAH73880,Q8NDZ2,NP_940969,BAC86485,AAH32390,AAH37298 Hs.708145 FLJ44216|MGC33586|MGC40402|MGC90345 protein-coding 2290192 C5orf26 chromosome 5 open reading frame 26 16973895,15994437,15489334,12477932,9490301 114915 XR_040902,XR_040901,XR_040900,NR_015370,AC010261,CH471086,AB002437,AB048207,BC101844,BC112077,CR601802,CR612688 EAW49016,BAB64313,AAI01845,AAI12078,Q96Q82 Hs.12082,Hs.584954 MGC126893|MGC138282|TIGA1 miscrna 1605053 C5orf28 chromosome 5 open reading frame 28 15489334,14702039,12477932,9373149 64417 NM_022483,AC025457,CH471119,AK025310,AK225220,AL137306,BC013351,BC063832,BC073852,BC119658,BC119659,CR604540 NP_071928,EAW56061,EAW56062,EAW56063,EAW56064,BAB15108,AAH13351,AAH63832,AAH73852,AAI19659,AAI19660,Q0VDI3,Q6GMT5 Hs.558531 FLJ21657|MGC149524|MGC90226 protein-coding 1604723 C5orf29 chromosome 5 open reading frame 29 15489334,14702039,12477932 202309 NM_152687,AC008814,CH471123,AK090960,BC063534 NP_689900,EAW54974,EAW54975,BAC03557,AAH63534,Q8N292 Hs.547697 FLJ33641|MGC70478 protein-coding 1313342 C5orf3 chromosome 5 open reading frame 3 10843801,16344560,15489334,14702039,12477932,9373149,8125298 10827 NM_018691,AC010232,CH471062,AF159700,AK024664,AK095446,AK225821,BC011414,BC050701,CR604627,DA351656 NP_061161,EAW61646,EAW61647,EAW61648,AAF76523,BAB14952,AAH11414,Q05BE3,Q9NRY5 Hs.166551 GDB:9958387 133K02|FAM114A2 protein-coding 1602449 C5orf30 chromosome 5 open reading frame 30 14702039,12477932,9110174,8619474 90355 NM_033211,AC011362,CH471086,AF038182,AK058020,AK090558,BC009203,CR591853,CR619198,CR623577 NP_149988,EAW49075,BAC03478,AAH09203,Q96GV9 Hs.482976 FLJ25291 protein-coding 1603605 C5orf32 chromosome 5 open reading frame 32 12477932,9373149,8889548 84418 NM_032412,AC011379,AC011380,CH471062,AJ245877,AK225992,BC013643,BC023982,BM919999,CA310907,CR603819,CR607630,CR615127 NP_115788,EAW62073,EAW62074,CAC21572,AAH13643,AAH23982,Q9H1C7 Hs.529798 ORF1-FL49 protein-coding 1604237 C5orf33 chromosome 5 open reading frame 33 14702039,12477932,7566098 133686 NM_153013,NM_001085411,AC008807,AC008942,CH471119,AA332693,AI377881,AK055158,AK057950,AY360463,BC032912,BC045565,BC062567,BM990433,BX648388 NP_694558,NP_001078880,EAW55939,EAW55940,EAW55941,BAB70864,AAQ62967,AAH32912,AAH45565,AAH62567,Q49AR0,Q4G0N4 Hs.81907 FLJ30596|MGC43298 protein-coding 1601916 C5orf34 chromosome 5 open reading frame 34 14702039,12477932 375444 NM_198566,AC025457,AC114956,CH471119,AK056925,BC036867 NP_940968,EAW56065,BAB71311,AAH36867,Q96MH7 Hs.661641 FLJ32363|MGC46448 protein-coding 1602299 C5orf35 chromosome 5 open reading frame 35 12477932 133383 NM_153706,AC008937,CH471123,BC036528,CR625068 NP_714917,EAW54956,EAW54957,EAW54958,AAH36528,Q8NE22 Hs.85950 MGC33648 protein-coding 1604483 C5orf36 chromosome 5 open reading frame 36 12477932 285600 NM_173665,AC025766,AC093311,CH471084,BC035515,BX648338,CR621527 NP_775936,EAW96025,AAH35515,Q8IV33 Hs.425123 DKFZp686F0372|MGC34713 protein-coding 1605874 C5orf37 chromosome 5 open reading frame 37 15489334,15144186,14702039,12477932 134359 BJ991592,CA441610,CR605391,CR621973,DB448626,BC101328,NM_001099271,NM_152408,AC010245,AC025170,CH471084,AK093098,BC010695,BC050459,BC065750,BC101325,BC101326,BC101327 AAI01329,Q8NA72,AAI01328,NP_001092741,NP_689621,EAW95767,EAW95768,EAW95769,BAC04054,AAH65750,AAI01326,AAI01327 Hs.432726 FLJ35779|MGC120442|MGC120443|MGC120444 protein-coding 1606695 C5orf38 chromosome 5 open reading frame 38 16515847,12477932 153571 NM_178569,AC091891,AY249324,CH471102,AY249325,BC101608,BC101634 NP_848664,AAP15241,EAX08134,EAX08135,AAP15242,AAI01609,AAI01635,Q86SI9 Hs.668017 CEI|IRX2NB|MGC126657|MGC126683 protein-coding 1605501 C5orf39 chromosome 5 open reading frame 39 16895901,12477932,10359570 389289 NM_001014279,AC025171,CH471119,AY032883,BC067873 NP_001014301,EAW56037,EAW56038,AAK52335,AAH67873,Q3ZCQ2 Hs.529385 AX2R|AXIIR protein-coding 1319694 C5orf4 chromosome 5 open reading frame 4 17081983,15489334,14702039,12477932,10843801 10826 NM_032385,NM_016348,AC112169,CH471062,AF159165,AK023820,AK074245,AK127944,AL359653,AL359655,BC004506,BC007216,CR626161 NP_115761,NP_057432,EAW61629,EAW61630,EAW61631,AAF22611,BAB14690,AAH04506,AAH07216,Q96IV6,Q9UHK3 Hs.519694,Hs.708721 GDB:9958386 FLJ13758 protein-coding 1606861 C5orf40 chromosome 5 open reading frame 40 16344560,12477932 408263 NM_001001343,AC016571,CH471062,AK289701,BC022570,DA173480,DB567325 NP_001001343,EAW61607,BAF82390,AAH22570,Q8TBE3 Hs.437066 MGC27121 protein-coding 1603892 C5orf41 chromosome 5 open reading frame 41 17353931,14702039,12477932 153222 NM_153607,AC008378,CH471062,AK122675,AK124117,AK291677,AY139008,AY174896,BC041709,BC043185,BX647573,BX647768 NP_705835,EAW61414,EAW61415,EAW61416,BAF84366,AAN28956,AAO18732,AAH41709,CAI46104,CAI46039,Q8IUR6 Hs.484195 DKFZp313F2319|DKFZp686G2059 protein-coding 1606513 C5orf42 chromosome 5 open reading frame 42 14702039,12477932 65250 NM_023073,AC008925,AC025449,AK023293,AK024779,AK026735,AK055192,AK096581,AL832176,AL833065,BC028410,BC074774,BX647602,BX649121 NP_075561,BAB14513,BAB14999,BAB15539,BAC04822,AAH28410,AAH74774,Q6DK46,Q9H799 Hs.643420 DKFZp686K02105|FLJ13231|FLJ21126 protein-coding 1321412 C5orf5 chromosome 5 open reading frame 5 16344560,15489334,12477932,11161817,11087669,10931946 51306 NM_001101801,NM_001101800,NM_016603,AC106753,AC113382,CH471062,AF157316,AF251038,AK130245,AL833699,AW592656,BC041335,BC048965,BC056887,BU183000,CR611121,DA499233 NP_001095271,NP_001095270,NP_057687,EAW62170,EAW62171,EAW62172,EAW62173,AAF67482,AAF63764,AAH48965,AAH56887,Q3ZCR0,Q9NYF5 Hs.657919 GDB:11504788 DKFZp667F249|FLJ26735|KHCHP|MGC57159|N61 protein-coding 1350608 C5orf9 chromosome 5 open reading frame 9 415118 AI808255 Hs.124611 protein-coding 1352972 C6 complement component 6 C6 is a component of complement cascade. It is part of the membrane attack complex which can insert into the cell membrane and cause cell to lyse. People with C6 deficiency are prone to bacterial infection. Two transcript variants encoding the same protein have been found for this gene. 1600672,1600673,625607,1600675,1600489,1600682,1600670,1580863 3052276,17257682,16344560,16335952,15845028,15489334,14757862,12477932,10551839,9856498,9472666,9366265,8805625,8512929,8364540,8101442,3764345,3192535,2808363,2789218,2468158,1672663,1387399 1600672,1600673,625607,1600675,1600489,1600682,1600670 729 AC091871,CH471119,X72177,AB126592,AK292509,BC035723,DB184605,J04506,J05024,J05064,NM_000065,NM_001115131,AC008863 EAW56012,EAW56013,CAA50994,BAD02321,BAF85198,AAH35723,AAB59433,AAA59668,AAA51860,P13671,ABM82183,ABM85369,NP_000056,NP_001108603 Hs.481992 GDB:119045 protein-coding 1605841 C6orf1 chromosome 6 open reading frame 1 15489334,12477932,10036196,8889549 221491 NM_178508,NM_001008703,NM_001008704,AL354740,AY062936,CH471081,AA043491,AA779779,AK290164,BC009526,BC023627,BC047919,CF456665,CR592917,CR619587 NP_848603,NP_001008703,NP_001008704,EAX03775,EAX03776,EAX03777,EAX03778,BAF82853,AAH23627,AAH47919,Q86T20 Hs.381300 GDB:9865610 LBH|MGC57858 protein-coding 1346663 C6orf10 chromosome 6 open reading frame 10 15489334,14574404,12509440,12477932,10803852,9373149,8125298 10665 NM_006781,AL034394,AL035445,AL662796,AL670296,AL671511,AL845509,AL845557,BX001039,BX908732,BX927180,CH471081,AK225742,BC034774,BX113229,U60665 NP_006772,CAI18262,CAI18263,CAI17567,CAI17568,CAI18059,CAI18060,CAI18565,CAI18566,CAI17766,CAI17767,CAI18571,CAI18572,CAQ07323,CAQ07324,CAQ08440,CAQ08441,EAX03624,EAX03625,AAH34774,AAB02975,Q13647,Q5SRN2 Hs.567414 GDB:9958112 TSBP protein-coding 1351960 C6orf100 chromosome 6 open reading frame 100 387084 1343309 C6orf103 chromosome 6 open reading frame 103 14702039,14574404,11329013 79747 XM_929679,XM_941958,XM_001716966,NM_024694,AL138916,AL158199,AL359547,CH471051,AK026774,AK097570,AL832192,BG199812,DN831198 XP_934772,XP_947051,XP_001717018,NP_078970,CAI14693,CAI14697,CAI14698,CAI20488,CAI20489,CAI20490,CAI16490,EAW47827,BAB15549,BAC05106,Q5T904,Q5T905,Q5T908,Q5TAU2,Q8N7X0,Q9H5S1,Q9HAA5 Hs.648066 protein-coding 1313849 C6orf105 chromosome 6 open reading frame 105 16415175,15489334,14702039,14574404,12477932 84830 NM_032744,AL022724,CH471087,AJ420520,AK123258,BC007011 Q96IZ2,NP_116133,CAB38130,CAI20503,EAW55304,EAW55305,EAW55306,AAH07011,Q5THW1 Hs.126409 MGC12335|RP3-413H6.1|dJ413H6.1 protein-coding 1601978 C6orf106 chromosome 6 open reading frame 106 18003597,15489334,14702039,14574404,12477932,9110174,8619474 64771 NM_022758,NM_024294,AL031577,AL451165,CH471081,AF052106,AF370387,AK025848,AK056964,BC002328,BC010143,BC010184,BC013241,BC071885,BC075810,BE898102,CR593696 NP_073595,NP_077270,CAI20393,CAI20394,CAI20395,CAH70507,CAH70508,EAX03790,EAX03791,EAX03792,AAQ15223,BAB15258,BAB71327,AAH02328,AAH10184,AAH75810,Q5TH58,Q71RF0,Q9H6K1 Hs.699236 FLJ22195|FLJ32402|FP852|MGC4614|RP3-391O22.4|dJ391O22.4 protein-coding 1603316 C6orf108 chromosome 6 open reading frame 108 This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. 9271375,17081983,16189514,15489334,14574404,12477932 10591 NM_199184,NM_006443,AL133375,CH471081,AF040105,BC011683,BM747628,BQ052226,EU585603 NP_954653,NP_006434,CAI20205,EAX04165,EAX04166,AAB96766,AAH11683,ACB87500,O43598 Hs.109752 RCL|RP3-330M21.3|dJ330M21.3 protein-coding 1353106 C6orf112 chromosome 6 open reading frame 112 154442 AL137368 Hs.586271 bA99L11.2 protein-coding 1347646 C6orf114 chromosome 6 open reading frame 114 15489334,14574404,12477932 85411 NM_033069,AL583828,CH471087,AF264036,BC009205,BC066553 NP_149060,CAI14821,EAW55330,AAK58533,AAH66553,Q96JD4 Hs.484686 ADG-90|FLJ20330|RP11-501I19.1 protein-coding 1351168 C6orf115 chromosome 6 open reading frame 115 15489334,12665801,12477932,11042152 58527 NM_021243,AL590308,CH471051,AF116682,AF161398,BC014953,BG563686 NP_067066,CAI14830,CAI14831,EAW47902,AAF71102,AAF28958,AAH14953,Q5SZC8,Q9P1F3 Hs.600861 HSPC280|PRO2013|RP11-501K14.2 protein-coding 1320449 C6orf117 chromosome 6 open reading frame 117 15489334,14702039,14574404,12477932 112609 NM_138409,AL161621,CH471051,AJ420596,AK090775,AK292736,BC010003,BC039855,BU629097,CR609200 NP_612418,CAI15045,EAW48646,BAC03517,BAF85425,AAH10003,AAH39855,Q96G30 Hs.370055 RP11-51G5.2 protein-coding 1349789 C6orf118 chromosome 6 open reading frame 118 8889548,15489334,14574404,12477932 168090 NM_144980,AL117345,AL356125,CH471051,AI333765,BC026278,BM968092,DB454755 NP_659417,CAI20512,CAI16919,EAW47548,EAW47549,AAH26278,Q5T5N4 Hs.144734 MGC23884|bA85G2.1|dJ416F21.2 protein-coding 1351959 C6orf12 chromosome 6 open reading frame 12 1304547 12477932,11130983,9553157 1304547 80862 XM_001132906,AL845439,AF032109,AF032110,AF032111,AF238323,AK126001,BC034573,BC067890,BC112395,BX648746,CR611202 XP_001132906,BAC86387,AAI12396,Q2KJ03,Q6UXQ7,Q6ZU40 Hs.653168 HTEX4 protein-coding 1348768 C6orf120 chromosome 6 open reading frame 120 12477932,9110174,8908511,8619474 387263 NM_001029863,AL513547,CH471051,AF055030,AF451991,BC051700,CR615299,CR615618,CR619063 NP_001025034,CAI12315,EAW47445,EAW47446,AAP97690,AAH51700,Q7Z4R8 Hs.591375 bA160E12.4 protein-coding 1344460 C6orf122 chromosome 6 open reading frame 122 15489334,14702039,14574404,12477932 401288 Q5T6M2 NM_207502,AL354892,AK056013,BC119778,BC122871 NP_997385,CAI19977,BAB71073,AAI19779,AAI22872,Q5T6M2 Hs.556095 FLJ31451|dJ266L20.5 protein-coding 1346936 C6orf123 chromosome 6 open reading frame 123 10382971 26238 NM_014356 1352975 C6orf124 chromosome 6 open reading frame 124 10382971,14702039 653483 NM_001042508,AL009178,CH471051,AB016898,AK091690,CR600303,DC331926 NP_001035973,EAW47487,BAA78633,BAC03721,Q9Y6Z5 Hs.520556 HGC6.4|dJ431P23.3 protein-coding 1315803 C6orf125 chromosome 6 open reading frame 125 15489334,14574404,12477932 84300 NM_032340,AL139044,CH471081,AF086234,AY568085,BC006007 NP_115716,CAI16457,CAI16458,EAX03745,AAS68365,AAH06007,Q9BRT2 Hs.93235 MGC14833|bA6B20.2 protein-coding 1605196 C6orf126 chromosome 6 open reading frame 126 15340161,12975309 389383 NM_207409,AL157823,CH471081,AW665167,AY358823,CD513822 NP_997292,CAI21638,EAX03847,EAX03848,AAQ89182,Q5T9G3,Q6UWE3 Hs.259563 UNQ3045|dJ510O8.5 protein-coding 1350096 C6orf126 chromosome 6 open reading frame 126 387087 1347452 C6orf127 chromosome 6 open reading frame 127 387088 1343464 C6orf128 chromosome 6 open reading frame 128 15489334,14702039,14574404,12477932,221468 221468 BC026012,BC029657,NM_145316,AL353579,CH471081,AK098666 AAH26012,AAH29657,Q8N0U3,Q8N7C4,NP_660359,CAI20317,EAX03936,EAX03937,BAC05371 Hs.520101 dJ355M6.2 protein-coding 1352845 C6orf129 chromosome 6 open reading frame 129 16344560,12477932 154467 NM_138493,AL353597,CH471081,AF161383,BC003515,BC104835,BC108655,BE907609,DA152306 NP_612502,CAI19607,CAI19608,EAX03947,AAF28943,AAH03515,AAI04836,AAI08656,Q9P0B6 Hs.284207 HSPC265|MGC131656 protein-coding 1317992 C6orf130 chromosome 6 open reading frame 130 15489334,14574404,12477932 221443 NM_145063,AL031778,CH471081,AJ420538,AK290939,BC011709,BC021579,CR620893,CR621311 NP_659500,CAI20285,EAX04010,EAX04011,EAX04012,BAF83628,AAH11709,AAH21579,Q05CR9,Q9Y530 Hs.227457 MGC19570|dJ34B21.3 protein-coding 1345988 C6orf131 chromosome 6 open reading frame 131 387091 1354360 C6orf132 chromosome 6 open reading frame 132 647024 XM_930012,XM_001724313,XM_941544,AL096814,AL512274,AK074567 XP_935105,XP_001724365,XP_946637,CAI19541,CAI16783,Q5T0Z8 Hs.575337 FLJ90086|bA7K24.2 protein-coding 1347627 C6orf134 chromosome 6 open reading frame 134 16344560,14702039,12477932,9373149 79969 NM_001031722,AL662800,AL732442,AL845353,BX908728,CH471081,NM_024909,CR753328,CR759778,AB075512,AK023220,AK225107,AL535697,AL833858,BC006105,BC025755,BC047303,BX418559,CR593788,CR594590,CR599754,CR602660,CR615059,CR619757,CR622449,DB090032 NP_079185,NP_001026892,CAI18164,CAI18165,CAI18166,CAI18167,CAI18168,CAM25498,CAI17752,CAI17753,CAI17754,CAI17755,CAM25006,CAI41870,CAI41871,CAI41872,CAI41873,CAI41874,CAI41875,CAQ07413,CAQ07414,CAQ07415,CAQ07416,CAQ07418,EAX03306,EAX03307,EAX03308,EAX03309,CAP58454,CAP58455,CAP58456,CAP58457,CAP58458,CAP58459,CAQ09406,CAQ09407,CAQ09408,CAQ09409,CAQ09411,BAE45758,BAB14472,CAD38717,AAH06105,AAH25755,AAH47303,Q3LIB0,Q5JP39,Q5JP40,Q5SQH9,Q5SQI0,Q5SQI1,Q5SU03,Q86X42,Q8NDK9,Q8TAV6,Q9BRS1,Q9H8X5 Hs.654798 DKFZp547J097|FLJ13158|Nbla00487 protein-coding 1348259 C6orf136 chromosome 6 open reading frame 136 16344560,15489334,14702039,14574404,12477932 221545 NM_001109938,NM_145029,AL662798,AL662800,AL732442,AL845353,BX908728,CH471081,CR753328,CR759778,AK127564,BC016167,BC064397,BC073975,BQ022831,DA200997 NP_001103408,NP_659466,CAI18250,CAI95541,CAI18172,CAI95540,CAI17758,CAI17760,CAI41879,CAI41880,CAI41881,CAQ07420,CAQ07421,EAX03310,EAX03311,CAP58460,CAP58461,CAP58462,CAQ09413,CAQ09414,BAC87037,AAH16167,AAH64397,Q0P5T2,Q5SQH8 Hs.591787 MGC15854 protein-coding 1353672 C6orf138 chromosome 6 open reading frame 138 221390 XM_167212 1606357 C6orf138 chromosome 6 open reading frame 138 11181995 442213 NM_001013732,AL121973,AL139336,AL161622,AL353138,CH471081,AK123835,BC137359,BC137364,DC372324,DR761295 NP_001013754,CAI20456,EAX04325,BAC85703,AAI37360,AAI37365,Q6ZW05 Hs.659409 FLJ41841|dJ402H5.2 protein-coding 1348263 C6orf140 chromosome 6 open reading frame 140 14702039 389396 XM_371825,XM_001717222,AL590244,CH471081 XP_371825,XP_001717274,CAI13086,EAX04334,Q5SZD4 FLJ44407|bA28H17.2 protein-coding 1342733 C6orf141 chromosome 6 open reading frame 141 135398 NM_153344,AK054918 1315218 C6orf142 chromosome 6 open reading frame 142 16344560,15489334,14702039,14574404,12477932,12218070,11282395,11222402,11160357,10975868 90523 NM_138569,AF235573,AF235775,AJ408433,AL139389,AL359380,AL365328,CH471081,AF317593,AK055530,AY006110,BC009010,BX091237,BX113168,BX647567,DA761851 NP_612636,AAK13703,AAK13905,CAC27625,CAI13926,CAI13927,CAI13928,CAI16269,CAI16270,CAI16271,CAH73016,CAH73017,EAX04433,EAX04434,EAX04435,AAK07575,BAB70942,AAG15613,AAH09010,Q5T468,Q5VWP3,Q96FE4,EAX04436 Hs.382212,Hs.591803 MGC18257 protein-coding 1350222 C6orf144 chromosome 6 open reading frame 144 387096 1322692 C6orf145 chromosome 6 open reading frame 145 12477932 221749 NM_183373,AL033523,AL391422,CH471087,AJ420534,AK024828,AK289598,AL832792,BC045715,BC056908,CR607510,CR616497,CR624860 NP_899229,CAI13992,CAI13993,EAW55141,Q5TGL8,Q5TGL9,BAF82287,CAI46167,AAH45715,AAH56908 Hs.484500 protein-coding 1345120 C6orf146 chromosome 6 open reading frame 146 15489334,14702039,14574404,12477932 222826 NM_173563,AL033383,CH471087,AK097426,BC039349 NP_775834,EAW55152,EAW55153,EAW55154,AAH39349,Q8IXS0 Hs.657342 MGC43581 protein-coding 1354465 C6orf147 chromosome 6 open reading frame 147 14702039 387097 AK090984 Hs.433062 protein-coding 1348540 C6orf15 chromosome 6 open reading frame 15 15217361,14574404,12975309,11178745,10545595 29113 NM_014070,AB088114,AB202103,AL662844,AL662867,AL773544,CH471081,AB031481,AY358438 NP_054789,BAC54947,BAE78624,CAI18322,CAI17718,CAI18478,EAX03356,BAA88132,AAQ88804,Q0EFA6,Q2L6G7,Q6UXA7,AAI46375,AAI53158 Hs.272214 STG protein-coding 1353865 C6orf150 chromosome 6 open reading frame 150 16344560,15592455,15489334,14702039,14574404,12477932 115004 NM_138441,AC019205,AL603910,CH471051,AK097148,BC012928,BC108714,BC113606,BC113608,DA375117 NP_612450,CAI14878,CAI14879,EAW48769,BAC04965,AAH12928,AAI08715,AAI13607,AAI13609,Q14CV6,Q8N884 Hs.658405 MGC131892|MGC142166|MGC142168 protein-coding 1319128 C6orf151 chromosome 6 open reading frame 151 15146077,18347052,14702039,14574404,12477932 154007 AL031058,AL390026,CH471087,AJ420586,AK027220,AK056796,AK092158,AK292409,AL832462,BC001558,BC054008,BC062458,BC114630,BC114631,BK005199,NM_152551,CR617787 NP_689764,CAI21647,EAW55216,EAW55217,EAW55218,BAB71287,BAF85098,AAI14631,AAI14632,DAA05497,Q6IEG0 Hs.13366 FLJ32234|MGC138904|MGC138905|dJ336K20B.1|dJ512B11.2 protein-coding 1318396 C6orf152 chromosome 6 open reading frame 152 15489334,14574404,12477932 167691 NM_181714,AL391840,CH471051,AL832214,BC050327,BX648161 NP_859065,CAC37303,EAW48705,EAW48706,AAH50327,Q86VQ0 Hs.21945 protein-coding 1317478 C6orf153 chromosome 6 open reading frame 153 17081983,15983380,15635413,15489334,14574404,12477932 88745 NM_033112,AL136304,CH471081,AF161371,BC006293,BC011933 NP_149103,CAI19798,EAX04143,AAF28931,AAH06293,AAH11933,Q96EU6 Hs.309231 dJ20C7.4 protein-coding 1346466 C6orf154 chromosome 6 open reading frame 154 15489334,14574404,12477932 221424 NM_001012974,AL355802,CH471081,AK126786,BC107130,BC108661,CR626442 NP_001012992,CAI42621,EAX04202,AAI07131,AAI08662,Q3B825,Q5JTD7 Hs.445552 FLJ44836|MGC131686|dJ337H4.2 protein-coding 1604749 C6orf159 chromosome 6 open reading frame 159 16326386,17531978 134701 NM_001009994,AL139232,CH471051,BC130460,BC132968 NP_001009994,CAI19902,CAI19903,EAW48651,AAI30461,AAI32969,Q5TAB6,Q5TAB7 Hs.149454 C6orf59|RIPPLY2|dJ237I15.1 protein-coding 1346186 C6orf161 chromosome 6 open reading frame 161 387100 AL355615 CAI13514,Q5T5W8 bA33E24.4 protein-coding 1313022 C6orf162 chromosome 6 open reading frame 162 16344560,15489334,14574404,12477932 57150 NM_001042493,NM_020425,AL096817,CH471051,AF311339,AI681117,AJ420558,AL050201,BC070260,BG534658,DA293899 NP_001035958,NP_065158,CAI18941,EAW48601,EAW48602,EAW48603,AAK38513,AAH70260,Q96KF7 Hs.70769 DKFZP586E1923|dJ102H19.2 protein-coding 1604202 C6orf163 chromosome 6 open reading frame 163 14702039,14574404 206412 XM_001720635,XM_001720089,XM_001725542,AL096817,CH471051,AK092941 XP_001720687,XP_001720141,XP_001725594,CAB71116,EAW48604,EAW48605,EAW48606,Q5TEZ5 Hs.646309 protein-coding 1350837 C6orf164 chromosome 6 open reading frame 164 14702039,12477932 63914 AK021476,AL096817 CAB71117,Q5TEZ4 Hs.645177 dJ102H19.4 protein-coding 1321665 C6orf165 chromosome 6 open reading frame 165 16189514,15489334,14702039,14574404,12477932 154313 NM_001031743,NM_178823,AL049697,CH471051,AK093830,AK098840,AK292584,BC035083,BC045171 NP_001026913,NP_849145,CAD92567,EAW48594,EAW48596,EAW48598,BAC04234,BAC05430,BAF85273,AAH35083,Q8IYR0,Q8N771 Hs.82921 FLJ25974|dJ382I10.1 protein-coding 1317188 C6orf166 chromosome 6 open reading frame 166 17081983,16189514,15489334,14702039,14574404,12477932,9373149,8125298 55122 NM_018064,AL133211,CH471051,CQ859732,AK001204,AK222701,BC000764,BC003042,BC005051,CR599380,CR624811 NP_060534,CAI21541,EAW48578,CAH25916,BAA91551,BAD96421,AAH00764,AAH03042,AAH05051,Q53H80,Q9NW35 Hs.485915 FLJ10342|dJ486L4.2 protein-coding 1312286 C6orf167 chromosome 6 open reading frame 167 17353931,14702039,14574404,12477932 253714 NM_198468,AL023656,AL353679,AL590484,CH471051,AK128060,BC110860,BC142948,BX538214,CR601989,CR603418,CR749603,CR749822 NP_940870,CAI20426,CAI16668,EAW48494,EAW48495,EAW48496,BAC87254,CAH18398,CAH18682,Q6ZRQ5 Hs.444292 DKFZp686C20164|DKFZp781C2113|FLJ46180|KIAA1900|dJ39B17.2 protein-coding 1347110 C6orf168 chromosome 6 open reading frame 168 737633 15489334,14702039,14574404,12477932,8889548 737633 84553 AK057793,AK096480,BC004869,BC006515,BC011583,BQ883579,CK299578,NM_032511,AL034371,CH471051,AK055101 BAB71576,AAH04869,AAH06515,AAH11583,Q5TGI0,Q9BR58,NP_115900,CAI19992,EAW48483,EAW48484,EAW48485,EAW48486,EAW48487 Hs.486010,Hs.573245 FLJ30539|MGC2817|dJ273F20 protein-coding 1345789 C6orf170 chromosome 6 open reading frame 170 16344560,14702039,14574404 221322 NM_152730,AL035593,AL139098,AL365508,AL589910,AL590225,CH471051,AK055461,AK091554,AK125385,AK126259,AK131446,DA109825,DA214223,DB216282 NP_689943,CAI20139,CAI20000,CAI13226,CAI16051,CAI13628,EAW48180,EAW48181,EAW48182,BAB70925,BAC03694,BAC86152,BAD18591,Q5SZD6,Q5SZM6,Q96NH3 Hs.121396 C6orf171|FLJ30899|FLJ34235|bA301B7.2|bA57L9.1|dJ310J6.1 protein-coding 1350206 C6orf173 chromosome 6 open reading frame 173 17610844,12477932 387103 NM_001012507,AC020559,AX972753,CH471051,AL832235,AY902475,BC017928,BC039556,BC046178,BC062798 NP_001012525,CAF17861,EAW48119,EAW48120,EAW48121,EAW48122,EAW48123,AAW82474,AAH17928,AAH39556,AAH46178,AAH62798,Q5EE01 Hs.486401 CUG2|DKFZp686L1553 protein-coding 1347447 C6orf174 chromosome 6 open reading frame 174 14574404,12477932,14702039 387104 NM_001012279,AL096711,CH471051,AK091416,AK096490,BC020441,BC127760,BC143043,BC143044,BE552225 NP_001012279,EAW48100,AAI27761,AAI43044,AAI43045,Q5TF21,AAI56254,AAI57035 Hs.319247 dJ403A15.3 protein-coding 1342598 C6orf176 chromosome 6 open reading frame 176 12477932 90632 XR_017929,XR_017998,AL132661,AL590482,BC008632,BC039614 Hs.31917 bA142J11.1 protein-coding 1351982 C6orf177 chromosome 6 open reading frame 177 387105 1349161 C6orf178 chromosome 6 open reading frame 178 387108 1346584 C6orf179 chromosome 6 open reading frame 179 387109 AL365217 CAI16604,Q5T3C8 bA74E24.1 protein-coding 1348040 C6orf180 chromosome 6 open reading frame 180 387110 1351430 C6orf181 chromosome 6 open reading frame 181 387111 Z95118 dJ354J5.2 protein-coding 1347020 C6orf182 chromosome 6 open reading frame 182 16344560,16341674,15489334,14702039,12477932 285753 AA761530,AK092723,AK289910,BC033448,BC064365,BM787514,BQ267680,BX093163,CR602009,DB204503,DB522144,NM_001083535,NM_173830,AL355305,CH471051 EAW48364,EAW48365,EAW48366,BAF82599,AAH33448,AAH64365,Q5T6A1,Q6P2R3,NP_001077004,NP_776191,CAI14559,EAW48361,EAW48362,EAW48363,Q8IYX8 Hs.632616 MGC21731|MGC70837|bA487F23.2 protein-coding 1322775 C6orf182P chromosome 6 open reading frame 182 pseudogene 221017 NG_005976,AC022532,CH471083 EAW54398,Q5T6A0 C10orf37 chromosome 10 open reading frame 37 pseudo 1350155 C6orf183 chromosome 6 open reading frame 183 389422 XM_374179,AL355305,AL359712 XP_374179,CAI14561,Q5T699 bA487F23.3 protein-coding 1349220 C6orf184 chromosome 6 open reading frame 184 12477932,11181995 221261 XM_168053,XM_939850,XM_001725460,AL359711,CH471051,BC107113,BC107114 XP_168053,XP_944943,XP_001725512,CAI40694,EAW48357,AAI07114,A4QMU0 Hs.675871 bA425D10.3 protein-coding 1344430 C6orf185 chromosome 6 open reading frame 185 221262 Q5JSU7 XM_168055,XM_944583,AL359711,BC128118,BC128119 XP_168055,XP_949676,CAI40699,AAI28119,AAI28120,Q5JSU7 Hs.373914 MGC149201|bA425D10.7 protein-coding 1343913 C6orf186 chromosome 6 open reading frame 186 728464 XM_001725390,XM_001726186,NM_001123364,AL050350,AL445068,XM_001722591 XP_001725442,XP_001726238,NP_001116836,XP_001722643 FLJ45203|dJ71D21.2 protein-coding 1346500 C6orf187 chromosome 6 open reading frame 187 221299 XM_166305 1351794 C6orf189 chromosome 6 open reading frame 189 15489334,14574404,12477932,8889549 221303 NM_001085480,AL354716,CH471051,BC038997,H71562 NP_001078949,CAI16921,EAW48215,AAH38997,Q5T6X4 Hs.126712 bA86F4.2 protein-coding 1603481 C6orf190 chromosome 6 open reading frame 190 14702039,12477932 387357 CH471051,AK094863,AK097903,AK124031,AK128377,AK292046,BC043608,BC130516,BX640890,BX956657,NM_001010923,AL035470,AL356432,AL365224 EAW48091,EAW48092,BAC05194,BAF84735,AAI30517,CAE45941,Q8N1K5,NP_001010923,CAI17110,CAI17111 Hs.661756 C6orf207|FLJ40584|MGC163388|bA325O24.3|bA325O24.4 protein-coding 1606936 C6orf191 chromosome 6 open reading frame 191 14574404 253582 NM_001010876,AL451046,CH471051 NP_001010876,CAH70899,EAW48075,Q5VVB8 Hs.448372 bA174C7.4 protein-coding 1315874 C6orf192 chromosome 6 open reading frame 192 This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. 15203218,12477932 116843 AL032821,AL137783,AX235945,CH471051,AJ420537,AK124442,AK289918,BC069567,BC069570,CB218467,CD635228,NM_052831 NP_439896,CAI95705,CAI95706,CAI19370,CAI19371,CAC88243,EAW48012,EAW48013,BAF82607,AAH69567,AAH69570,Q5TBJ2,Q6NT16 Hs.347144 dJ55C23.6 protein-coding 1349077 C6orf193 chromosome 6 open reading frame 193 254751 XM_173173 1343779 C6orf195 chromosome 6 open reading frame 195 15489334,14702039,14574404,12477932 154386 NM_152554,AL138876,CH471087,AK056496,BC104007,BC104008,BC104009 NP_689767,CAI12219,EAW55081,BAB71197,AAI04008,AAI04009,AAI04010,Q3SY08,Q3SY09,Q96MT4 Hs.680574 FLJ31934|MGC120321|MGC120322|MGC120323|RP11-145H9.2|bA145H9.2 protein-coding 1354002 C6orf199 chromosome 6 open reading frame 199 14702039,12477932 221264 NM_145025,AL121788,AL133472,CH471051,AK055538,AK124171,AL832162,BC022031 NP_659462,CAI22498,CAI22499,CAI22500,CAI19667,CAI19668,EAW48333,EAW48334,EAW48335,BAB70945,BAC85794,AAH22031,Q5TCS8,Q5TDU3 Hs.486169 FLJ42177|MGC26954|RP1-70A9.1|dJ70A9.1 protein-coding 1351435 C6orf2 chromosome 6 open reading frame 2 23737 GDB:9865612 1354340 C6orf201 chromosome 6 open reading frame 201 12477932 404220 NM_001085401,AL033383,CH471087,AF429972,AK124114,BC047663,BC066986 NP_001078870,EAW55155,EAW55156,EAW55157,AAP97304,AAH47663,AAH66986,Q5JYJ9,Q7Z4U5 Hs.519855 MGC87625|dJ1013A10.5 protein-coding 1343649 C6orf202 chromosome 6 open reading frame 202 387115 AL136968 CAI19704,Q5TBU7 dJ182O16.3 protein-coding 1346285 C6orf203 chromosome 6 open reading frame 203 15489334,14702039,14574404,12477932,11707072,11042152 51250 NM_016487,AL355586,CH471051,AF151064,AK091564,BC010899,CR622886 NP_057571,CAI16107,EAW48402,AAF36150,AAH10899,Q9P0P8 Hs.486084 FLJ34245|HSPC230|PRED31|RP11-59I9.1 protein-coding 1346539 C6orf204 chromosome 6 open reading frame 204 12747765,12477932,9110174,8619474 387119 NM_001042475,NM_206921,AL390069,AL589993,CH471051,Z99496,AF131811,AF308284,AY313778,BC036553,BC048977,BC052778,BC064835,BC110835,BC126140,BC126142 NP_001035940,NP_996804,CAI14134,Q5R353,Q5R354,Q5SZL2,AAI48460,AAI53055,CAI14135,CAI16048,EAW48196,EAW48197,CAI21605,CAI21606,CAI21608,CAI21609,AAG48252,AAP81009,AAH48977,AAH52778,AAI10836,AAI26141,AAI26143,Q3ZCQ5 Hs.656959 MGC131785|NY-BR-15|RP11-57K17.2|bA57K17.2 protein-coding 1606083 C6orf205 chromosome 6 open reading frame 205 17977904,16344560,14702039,12975309,12477932 394263 NM_001010909,AL663093,AL669830,AL773541,CH471081,CT009610,AB242595,AK056612,AY358415,BC105735,BC105736,BC105737,BC107478,DA763771 NP_001010909,CAI17705,CAI18008,EAX03353,CAQ08321,BAF92842,AAQ88781,AAI05736,AAI05737,AAI05738,AAI07479,Q0VGF1,Q3B7T2,Q5SS94,Q5SSG8,Q6UXC5 Hs.448277 KMQK697|MGC125609|MUC21|bCX31G15.2 protein-coding 1321745 C6orf206 chromosome 6 open reading frame 206 15489334,14702039,14574404,12477932 221421 NM_152732,AL136131,CH471081,AK055407,AK291399,BC029519,CR591492 NP_689945,CAC19508,CAI19961,EAX04220,EAX04221,EAX04222,BAB70918,BAF84088,AAH29519,Q96NH9,Q9H1X1 Hs.534585 FLJ30845|MRPS18AL1 protein-coding 1345612 C6orf208 chromosome 6 open reading frame 208 14702039,12477932 80069 Q9H8X3 NM_025002,AL049612,AL354892,AK023224,CH471051,BC101251,BC101252,BC101253,BC101396 NP_079278,CAI19978,BAB14475,EAW47434,AAI01252,AAI01253,AAI01254,Q9H8X3 Hs.677182 FLJ13162|MGC120218|RP1-266L20.3|dJ182D15.1 protein-coding 1313144 C6orf211 chromosome 6 open reading frame 211 17353931,15489334,14702039,14574404,12477932 79624 NM_024573,AL590543,CH471051,AJ420548,AK022972,AL110241,BC011348,CR610148 NP_078849,CAI10942,EAW47744,EAW47745,BAB14339,CAB53692,AAH11348,Q9H993 Hs.15929 DKFZp566I174|FLJ12910 protein-coding 1349170 C6orf214 chromosome 6 open reading frame 214 AK098012 1351690 C6orf215 chromosome 6 open reading frame 215 16702430,8838313 80866 AB088092,X90534 GT257 protein-coding 1602284 C6orf218 chromosome 6 open reading frame 218 12477932 221718 NM_152738,AL138885,CH471087,BC016666,BC017496,BC028118 NP_689951,EAW55254,EAW55255,EAW55256,AAH17496,AAH28118,Q8N0U6 Hs.173337 MGC40222 protein-coding 1604735 C6orf221 chromosome 6 open reading frame 221 17913455,12787504,12477932 154288 NM_001017361,AC019205,CH471051,AB211062,AI638315,BC132844,BC137160 NP_001017361,EAW48773,BAD95489,AAI32845,AAI37161,Q587J8 Hs.128326 ECAT1 protein-coding 1605195 C6orf222 chromosome 6 open reading frame 222 14574404 389384 NM_001010903,CH471081,BC140873,BX648558 NP_001010903,EAX03884,AAI40874,P0C671 Hs.162104 DKFZp779B1540 protein-coding 1605842 C6orf223 chromosome 6 open reading frame 223 12477932 221416 NM_153246,AL109615,CH471081,BC029071,BC032706,BF515759,CR590009,CR590223 NP_694978,EAX04238,EAX04239,AAH29071,AAH32706,Q8N319,ABM87657,ABW03908 Hs.531926 MGC45491 protein-coding 1606421 C6orf224 chromosome 6 open reading frame 224 12477932 222521 NM_173559,AL109947,AK098657,BC101714,BC111948 NP_775830,BAC05368,AAI01715,AAI11949,Q3MIS4,Q8N7C6 Hs.335027 FLJ25791|MGC126763|MGC138153 protein-coding 1354388 C6orf25 chromosome 6 open reading frame 25 This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. 1304532 11544253,17678728,17311996,15848171,14702039,14656967,14574404,12665801,12477932,11076863,10384126 1304532 80739 NM_138277,NM_025260,NM_138272,NM_138273,NM_138274,NM_138275,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AJ292259,AJ292260,AJ292261,AJ292262,AJ292263,AJ292265,AK092392,BC113719,BC113721,AJ292264 NP_612121,NP_079536,NP_612116,NP_612117,NP_612118,NP_612119,AAD18075,CAB46080,CAI18406,CAI18407,CAI18408,CAI18409,CAI18412,CAI17813,CAI17814,CAI17815,CAI17816,CAI17818,CAM45767,CAM45768,CAM45769,CAM45770,CAM45771,BAB63378,CAM26092,CAM26093,CAM26094,CAM26095,CAM26096,EAX03492,EAX03493,EAX03494,EAX03495,EAX03496,EAX03497,EAX03498,EAX03499,CAQ07017,CAQ07018,CAQ07019,CAQ07020,CAQ07021,CAQ10105,CAQ10106,CAQ10107,CAQ10108,CAQ10109,CAQ08890,CAQ08891,CAQ08892,CAQ08893,CAQ08894,CAC83497,CAC83496,CAC83498,CAC83502,CAC83499,CAC83500,CAC83501,AAI13720,AAI13722,O95866,AAI11843 Hs.247879 GDB:11504823 G6b|MGC142279|MGC142281|NG31 protein-coding 1352760 C6orf26 chromosome 6 open reading frame 26 14656967,14574404,8812450,2477242 401251 NM_001039651,AF134726,AL662834,AL662899,BX248133,CR759787,CR759915,CR925765,AI765046,AJ245661,AL122094,BC137541,BC137542,BU162048,CR596419 NP_001034740,AAD21821,CAI17728,CAI18428,CAM25673,CAM26109,CAM26110,CAQ10122,CAQ10123,CAQ07249,CAQ07250,CAQ10616,CAQ10617,AAI37542,AAI37543,Q5SSQ6 Hs.371225 GDB:11504825 NG23 protein-coding 1342662 C6orf27 chromosome 6 open reading frame 27 14656967,14574404,12477932,10803853,8812450 80737 NM_025258,AF134726,AL662834,AL662899,BA000025,BX248133,CH471081,CR759787,CR759915,CR925765,AJ245418,BC114625,DC323829 NP_079534,AAD21820,CAI17731,CAI18431,BAB63304,CAM26111,EAX03521,EAX03522,CAQ10124,CAQ07251,CAQ10618,CAB52192,Q9Y334 Hs.558553 GDB:11504827 FLJ25524|G7c|NG37 protein-coding 1352584 C6orf3 chromosome 6 open reading frame 3 23736 GDB:9865614 1315839 C6orf32 chromosome 6 open reading frame 32 The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Two alternatively spliced transcript variants have been found for this gene. 17150207,16344560,12477932,12369935,9786461,9205841,9055809 9750 AL512428,CH471087,AB002384,BC000930,BC001232,DA258515,DA675350,U49187,NM_015864,NM_014722,AL078584 CAI19935,CAH73086,CAH73087,EAW55467,EAW55468,EAW55469,EAW55470,EAW55471,EAW55472,BAA20840,AAH01232,AAC51134,Q9Y4F9,NP_056948,NP_055537,CAI19934 Hs.559459 GDB:9785769 DIFF40|DIFF48|FAM65B|KIAA0386|PL48 protein-coding 1316350 C6orf35 chromosome 6 open reading frame 35 16344560,14702039,12477932,11181995,8889548 729515 NM_018452,AL390955,AL607068,AX875619,BX284653,CH471051,CS185616,AA704900,AF161405,AF217510,AI803082,AK000891,AW663695,BC029130,BE047087,BG055128,BM985312,BX099608,CD244433,CR595293,CR626670,DA684766 NP_060922,CAI23394,CAI23395,CAI17123,CAE88944,EAW47676,EAW47677,CAJ42797,AAF28965,AAF67621,BAA91409,AAH29130,Q9NWH2 Hs.157212,Hs.535817 GDB:11505344 BM033|FLJ10029|MGC34308 protein-coding 1353225 C6orf36 chromosome 6 open reading frame 36 140785 Z93017 GDB:11505368 protein-coding 1345357 C6orf38 chromosome 6 open reading frame 38 387055 AA913908,AI688709 Hs.369401 C6orf39|bA373N24.1 protein-coding 1347530 C6orf41 chromosome 6 open reading frame 41 154522 1349360 C6orf42 chromosome 6 open reading frame 42 394256 1352614 C6orf43 chromosome 6 open reading frame 43 493815 1354435 C6orf47 chromosome 6 open reading frame 47 15489334,14667819,14656967,14574404,12477932,2477242,17081983 57827 NM_021184,AF129756,AL662801,AL662899,AL670886,AL805934,BA000025,CH471081,CR354443,AJ245433,BC012950,BC063584 NP_067007,AAD18083,CAI18277,CAI18383,CAI17791,CAI18514,BAB63388,EAX03465,CAQ06994,CAB51603,AAH12950,O95873,Q9UMP7 Hs.247323 GDB:11510680 D6S53E|G4|NG34 protein-coding 1344247 C6orf48 chromosome 6 open reading frame 48 14759258,12477932,8096093 50854 NM_001040437,NM_001040438,AL662834,AL671762,AL929592,BA000025,CH471081,AJ249731,AJ249732,BC000706,BC017660,BC066330,BQ920527,BT007334,CD249104,CR590413,CR608389 NP_001035527,NP_001035528,CAI17740,CAI18468,BAB63298,EAX03530,EAX03531,EAX03532,EAX03533,EAX03534,EAX03535,CAB56506,CAB56507,CAB56508,AAH00706,AAH17660,AAP35998,Q9BW21,Q9UBA6,Q9UBA7 Hs.640836 GDB:11510682 D6S57|G8 protein-coding 1353882 C6orf50 chromosome 6 open reading frame 50 14574404 57052 Q9HD87 AL138831,AF210650 AAF99586,CAI20479,Q9HD87 Hs.150858 KIAA0536|NAG19 protein-coding 1348700 C6orf52 chromosome 6 open reading frame 52 737633 12477932 737633 347744 XM_371798,XM_938497,XM_001718541,AL358777,CH471087,BC016820 XP_371798,XP_943590,XP_001718593,CAI14000,CAI14001,EAW55264,AAH16820,Q5T4I8 Hs.61389 protein-coding 1353712 C6orf54 chromosome 6 open reading frame 54 10382971 26236 NM_014354,AB016899 1319485 C6orf57 chromosome 6 open reading frame 57 15489334,14574404,12477932 135154 NM_145267,AL583856,CH471051,CS300728,BC018085,BC104649,BG703280,CF597237 NP_660310,CAH70444,EAW48810,EAW48811,EAW48812,CAK32392,AAH18085,AAI04650,Q5VUM1 Hs.418495 MGC104225 protein-coding 1350193 C6orf58 chromosome 6 open reading frame 58 16740002,15489334,14574404,12477932 352999 NM_001010905,AL583806,CH471051,BC062712 NP_001010905,CAH70094,EAW48094,AAH62712,Q6P5S2 Hs.226268 MGC72003 protein-coding 1348313 C6orf59 chromosome 6 open reading frame 59 79992 NM_024929 1322675 C6orf60 chromosome 6 open reading frame 60 16344560,15489334,14702039,12477932,11230166 79632 NM_001100411,NM_024581,AL132874,AL137009,AL365275,CH471051,AI457286,AJ420503,AJ420563,AK024004,AK091682,AK127744,AL136767,AY131226,BC009055,BC060769,BX538186,BX640728,DA717412,DB237883 NP_001093881,NP_078857,CAI42604,CAI20344,CAI40383,CAI40384,EAW48188,EAW48189,EAW48190,BAB14769,BAC03719,BAC87110,CAB66701,AAN07912,AAH09055,AAH60769,CAD98058,CAE45844,Q5JSQ4,Q5JSQ6,Q5TBS9,Q6N028,Q6P9G8,Q6ZS45,Q7Z323,Q7Z5E6,Q8NB25,Q9H0J8 Hs.443789 FLJ13942 protein-coding 1347534 C6orf61 chromosome 6 open reading frame 61 16226853,14702039,14574404 54844 XM_927492,AL132874,AK000177,BN000882 Q2KHJ0,Q8N5S5,Q9NXL9,XP_932585,CAC05409,BAA90991,CAJ70648 Hs.279008 FLJ20170|MCM9|dJ329L24.1 protein-coding 1347069 C6orf62 chromosome 6 open reading frame 62 737633 11256614,15489334,14702039,14574404,12477932,11230166 737633 81688 NM_030939,AL031775,AL133264,CH471087,AB075502,AJ420475,AK022681,AL136632,AY598792,BC040260,BC047866,CR457292,CR533486 NP_112201,CAI20135,CAI20136,CAI20341,CAI20342,EAW55461,EAW55462,EAW55463,EAW55464,BAE45752,BAB14175,CAB66567,AAT09203,AAH47866,CAG33573,CAG38517,Q3LIB6,Q9GZU0 Hs.519930 DKFZP564G182|FLJ12619|Nbla00237|XTP12|dJ30M3.2 protein-coding 1322030 C6orf64 chromosome 6 open reading frame 64 15489334,14702039,14574404,12477932,11230166 55776 AL035690,CH471081,NM_018322,CS072431,AF086405,AK001963,AL136839,CR593115,CR621024,BC022007 NP_060792,CAB71176,CAD92546,EAX03976,EAX03977,CAI93569,BAA92004,CAB66773,Q9NPB0,AAH22007 Hs.58382 DKFZp434H012|FLJ11101 protein-coding 1321272 C6orf65 chromosome 6 open reading frame 65 14702039,12477932 221336 NM_152731,AL450489,AL590037,CH471081,AI803591,AK054724,BC022988,BC036119,DC411761 NP_689944,CAI12113,CAI12115,EAX04469,BAB70799,AAH22988,AAH36119,Q5SZJ8 Hs.582993 FLJ30162|bA203B9.1 protein-coding 1343021 C6orf66 chromosome 6 open reading frame 66 18179882,17909269,17001319,15489334,14871833,14574404,12477932,11042152 29078 NM_014165,AL159985,CH471051,AF060508,AF161474,AK026245,BC018802,BC039464 NP_054884,CAC38368,EAW48501,AAG43126,AAF29089,AAH39464,Q9P032 Hs.591333 HRPAP20|HSPC125|My013|bA22L21.1 protein-coding 1353600 C6orf7 chromosome 6 open reading frame 7 89758 GDB:11504837 1319689 C6orf70 chromosome 6 open reading frame 70 14702039,12477932,12107410 55780 AL354892,CH471051,AI522177,AK001369,NM_018341,AK002014,AK021520,BC044812,CA396814 NP_060811,CAI19974,CAI19975,CAI19976,EAW47436,EAW47437,EAW47438,BAA91653,BAA92035,AAH44812,Q5T6L9,Q5T6M3,AAI48359 Hs.47546 FLJ11152|dJ266L20.3 protein-coding 1320268 C6orf72 chromosome 6 open reading frame 72 15489334,14574404,12975309,12477932 116254 NM_138785,AL078581,CH471051,AK289402,AY358952,BC014320,CR595295,CR595369 NP_620140,CAB88112,CAI19509,EAW47796,EAW47797,EAW47798,BAF82091,AAQ89311,AAH14320,Q9NU53 Hs.438872 dJ12G14.2 protein-coding 1314376 C6orf81 chromosome 6 open reading frame 81 17081983,15489334,14702039,14574404,12477932 221481 NM_145028,AL157823,CH471081,AK058119,BC033033 NP_659465,CAI21635,CAI21636,EAX03844,EAX03845,BAB71672,AAH33033,Q5T9G4 Hs.533066 FLJ25390 protein-coding 1353836 C6orf88 chromosome 6 open reading frame 88 441123 XM_930599,XM_496791,AL035696 XP_935692,XP_496791,Q5T7B9 dJ24O22.2 protein-coding 1348833 C6orf89 chromosome 6 open reading frame 89 17461456,16381901,15489336,15489334,14702039,14574404,12975309,12477932,11230166,11076863 221477 CH471081,AJ420498,AJ420511,AK001957,AK025213,AK058086,AK172780,AY358637,BC009380,BC023605,BC050582,BC095423,BC105946,BC105947,BC107489,BX538108,BX647220,NM_152734,AL122034,CR591566,CR610311,DQ487761 CAI23300,EAX03919,EAX03920,EAX03921,EAX03922,BAB71656,BAD18761,AAQ89000,AAH09380,AAH23605,AAH95423,AAI05947,AAI05948,AAI07490,CAD98021,CAI23299,NP_689947,CAI23297,CAI23298,ABF61801,Q0JTB5,Q19RM2,Q5TDC5,Q6PK01,Q6UWU4,CAL38248 Hs.433381 FLJ25357|MGC126060|MGC126061|MGC126062 protein-coding 1347006 C6orf91 chromosome 6 open reading frame 91 16344560 345930 NM_001077706,AL121834,BC146884,DB221732,DN831912,DQ904331,DV080594 NP_001071174,CAI42868,CAI42870,CAI42871,AAI46885,ABI98401,Q008S8 Hs.660603 LFDH|dJ509I19.2|dJ509I19.3 protein-coding 1345123 C6orf92 chromosome 6 open reading frame 92 387076 1349089 C6orf94 chromosome 6 open reading frame 94 14574404 153918 XM_928657,XM_941265,AL049844,CH471051 XP_933750,XP_946358,CAI21444,CAI21445,EAW47857,Q5TFG8 Hs.121188 dJ468K18.5 protein-coding 1322133 C6orf97 chromosome 6 open reading frame 97 15489334,14702039,14574404,12477932,9373149,8889548,8125298 80129 NM_025059,AL359494,AL590543,CH471051,AK026958,AK027300,AK225330,BC035003,BC060803,BI562667,BM677624,BM984518,BQ706948,CB306458 NP_079335,CAH71980,CAI10943,EAW47743,BAB15602,BAB55025,AAH60803,Q8IYT3 Hs.660044 FLJ23305|bA282P11.1 protein-coding 1354353 C6orf98 chromosome 6 open reading frame 98 387079 NM_001099267,AL138832 NP_001092737,CAI42783,Q5JV21 Hs.678022 dJ45H2.2 protein-coding 1350961 C6orf99 chromosome 6 open reading frame 99 387080 1317399 C7 complement component 7 C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC). People with C7 deficiency are prone to bacterial infection. 1599528,1599522,1599523,1580863 3052276,3335508,17266113,16335952,15889368,15879120,15489334,15383587,14760718,12595902,12477932,11378347,10886241,10882776,10551839,9856499,9218625,8892662,8871666,8814254,8364540,8345200,7814888,7730625,7523157,2792129,1672663,1517503,1387399 1599528,1599522,1599523 730 NM_000587,AC026732,AC114967,CH471119,X86328,X86344,AK290349,BC025402,BC041807,BC063851,BC065305,CR600042,CR612073,J03507,Y11720 NP_000578,EAW56007,EAW56008,CAA60121,BAF83038,AAH25402,AAH63851,AAA51861,CAA72407,P10643,Q05CI3,Q8TCS7 Hs.78065 GDB:119046 protein-coding 1317700 C7orf10 chromosome 7 open reading frame 10 15489334,14702039,12853948,12690205,12477932,11829489,9847074 79783 NM_024728,AC004988,AC005030,AC005160,AC006023,AC025536,AC026866,AC079149,AC092030,CH236951,CH471073,AB014767,AF397013,AK021870,BC098117,BC098261,BC098310,BC098318 NP_079004,AAD26979,AAS02000,AAS01999,AAS07506,EAL24000,EAW94135,EAW94136,EAW94137,BAB87807,AAL76418,BAB13922,AAH98117,AAH98261,AAH98310,AAH98318,Q4KMW4,Q4KMW8,Q75MI5,Q75MS9,Q75MU8,Q9HAC7,Q9Y6U8 Hs.586313 GDB:11505011 DERP13|FLJ11808|ORF19 protein-coding 1344320 C7orf11 chromosome 7 open reading frame 11 17310276,17081983,16977596,16964243,15645389,15489334,12690205,12477932,11829489 136647 NM_138701,AC006023,AX048113,CH236951,CH471073,AK290098,BC026265,CR617993,CR618070 NP_619646,EAL23999,EAW94134,BAF82787,AAH26265,Q8TAP9 Hs.654989 GDB:11505013 ABHS|ORF20|TTDN1 protein-coding 1351072 C7orf13 chromosome 7 open reading frame 13 129790 NM_032625 GDB:11510686 1344493 C7orf16 chromosome 7 open reading frame 16 10051666,15489334,12955585,12853948,12477932,9920894,9847074 10842 NM_006658,AACC02000087,AC006325,CH471073,AF071789,AF097730,BC028094 NP_006649,EAL24441,AAF03537,EAW93983,AAD12588,AAD13030,AAH28094,O96001 Hs.227011 GSBS protein-coding 1323234 C7orf20 chromosome 7 open reading frame 20 737633 17353931,18249086,16169070,15489334,14702039,12690205,12477932,10810093,8889548 737633 51608 AC073957,AC099731,CH236965,CH471144,AF132954,AK023560,AK024305,AK097899,AK125863,AL133014,BC003550,BG109419,BM843540,BM980767,NM_015949,CR612389 NP_057033,EAL23708,EAW87179,EAW87180,AAD27729,CAB61355,AAH03550,Q7L5D6 Hs.107387 CEE|CGI-20 protein-coding 1349104 C7orf23 chromosome 7 open reading frame 23 15556294,15489334,12690205,12477932 79161 NM_024315,AC005076,CH236949,CH471091,BC002837,BT006973 NP_077291,EAL24179,EAW76960,EAW76961,AAH02837,AAP35619,Q9BU79 Hs.196129 MGC4175|MM-TRAG protein-coding 1312569 C7orf24 chromosome 7 open reading frame 24 17932939,16765912,15489334,14702039,12690205,12477932 79017 NM_024051,AACC02000087,AC005154,CH471073,AK021779,BC000625,BC005356,BC013937,BC019243,CR591557,CR600288,CR612380,CR617385 NP_076956,EAL24452,EAW93950,EAW93951,EAW93952,EAW93953,AAH00625,AAH05356,AAH13937,AAH19243,O75223,Q9BS37 Hs.530024 CRF21|FLJ11717|MGC3077 protein-coding 1317752 C7orf25 chromosome 7 open reading frame 25 12477932,12446740,9373149,8125298 79020 NM_001099858,NM_024054,AC010132,CH236951,CH471073,AK024820,AK225194,BC000769,BC001845,CR592505,DC303669,DC366585 NP_001093328,NP_076959,EAL24004,EAW94148,EAW94149,EAW94150,BAB15019,AAH00769,AAH01845,Q9BPX7 Hs.333786 FLJ21167|MGC2821 protein-coding 1317382 C7orf26 chromosome 7 open reading frame 26 15489334,14702039,12477932 79034 NM_024067,AC079742,CH236963,CH878731,AK056149,BC001076,BC005121,CR591715,CR620057 NP_076972,EAW55021,EAW55022,BAB71104,AAH01076,AAH05121,Q96N11 Hs.487511 MGC2718 protein-coding 1318809 C7orf27 chromosome 7 open reading frame 27 16964243,15489334,14702039,12477932 221927 NM_152743,AC092488,CH236953,CH471144,AK024461,AK024482,AK131083,AK131097,AL133088,BC007209,BC015632,BC023561,BC040704,CR604410 NP_689956,EAL23957,EAW87255,EAW87256,EAW87257,EAW87258,EAW87259,EAW87260,BAB15751,BAB15772,BAC85133,BAC85147,CAB61405,AAH07209,AAH15632,AAH23561,AAH40704,Q6PJG6,Q6ZNJ8,Q6ZNL1,Q9H7L8 Hs.520623 MGC22916 protein-coding 1315007 C7orf28A chromosome 7 open reading frame 28A 15146197,14702039,12477932,10810093,9847074 51622 NM_015622,AF151801,AK090536,BC067810,BC132749,BC132751,BI546694,CN310516,CR590431,CR595861,CR597206 NP_056437,AAD34038,AAI32750,AAI32752,O95766,Q6NVZ1,Q7L8P3 Hs.530000 CGI-43|H_DJ1163J12.2 protein-coding 1351383 C7orf28B chromosome 7 open reading frame 28B 737633 15489334,14702039,12853948,12477932,10810093 737633 221960 XM_001720226,AC004983,AC079882,AK000993,AK292326,AL050215,BC010130,BC108302,CR602854,NM_198097 XP_001720278,AAQ96868,AAQ93370,BAF85015,CAB43318,AAH10130,O95766,NP_932765 Hs.567779 DKFZP586I1023|H_NH0577018.2|MGC19819 protein-coding 1321295 C7orf29 chromosome 7 open reading frame 29 15489334,12853948,12690205,12477932 113763 NM_138434,AACC02000108,AC005586,CH471173,AL832660,BC011406 NP_612443,EAL24471,AAP21891,EAW54126,AAH11406,Q96FA7 Hs.655915 protein-coding 1315834 C7orf30 chromosome 7 open reading frame 30 16730941,15489334,12690205,12477932 115416 NM_138446,AC005082,CH236948,CH471073,AK127742,BC012331 NP_612455,EAL24258,EAW93785,AAH12331,Q96EH3 Hs.87385 protein-coding 1349806 C7orf31 chromosome 7 open reading frame 31 9847074,15489334,14702039,12853948,12477932 136895 BX640851,NM_138811,AC004129,CH236948,CH471073,AK097248,AK098189,BC015397,BC043269,BC060879,BI830207,CR606692 NP_620166,AAP22338,EAL24238,EAW93825,EAW93826,EAW93827,EAW93828,BAC04985,BAC05255,AAH15397,AAH43269,AAH60879,CAE45919,Q8N865 Hs.122055 protein-coding 1342559 C7orf33 chromosome 7 open reading frame 33 15489334,12690205,12477932 202865 NM_145304,AACC02000041,AC005229,CH471146,BC021251 NP_660347,EAL24420,EAW80075,EAW80076,EAW80077,AAH21251,Q8WU49 Hs.352212 protein-coding 1345356 C7orf34 chromosome 7 open reading frame 34 737633 16189514,15489334,12690205,12477932 737633 135927 NM_178829,NG_007492,AC099652,CH236959,CH471198,AB083483,AB083484,AI990561,BC014596 Q96L11,NP_849151,EAL23778,EAW51894,EAW51895,BAB88941,BAB88942,AAH14596 Hs.239676 ctm-1 protein-coding 1315329 C7orf36 chromosome 7 open reading frame 36 737633 16169070,15489334,12853948,12690205,12477932,9847074 737633 57002 NM_020192,AC011290,CH236951,CH471073,AF226046,BC022043,CR457198 NP_064577,AAQ96864,EAL23993,EAW94120,AAF86946,AAH22043,CAG33479,Q9NRH1,ABM83755,ABM87073,ABM87074 Hs.83313 GK003 protein-coding 1604968 C7orf38 chromosome 7 open reading frame 38 This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. 16314882,15489334,14702039,12690205,12477932,10607616 221786 NM_145111,NG_000004,AC005020,CH236956,CH471091,AK024526,AK094113,AK290724,AL713672,BC009536,BC040214,BC126337,BC130371,CV569355 NP_659802,EAL23872,EAW76652,EAW76653,BAC04288,BAF83413,CAD28478,AAH40214,AAI26338,AAI30372,Q8TCP9 Hs.596587 DKFZp727G131|FLJ36794 protein-coding 1346647 C7orf4 chromosome 7 open reading frame 4 10329000 64433 AF107456 Hs.404170 GDB:11504800 protein-coding 1601702 C7orf40 chromosome 7 open reading frame 40 14702039,12690205,12477932 285958 NR_003697,CH236960,AK096179,BC092459 Hs.25892 FLJ38860 miscrna 1603878 C7orf41 chromosome 7 open reading frame 41 14702039,12690205,12477932,9847074 222166 AK098769,AL834391,AY054121,AK055466,BC045592,BC062423,BI560774,CR599980,DT217816,AK096533,NM_152793,AACC02000087,AC007036,CH471073 BAC04811,BAC05408,CAD39053,EAW93936,AAL14866,AAH62423,Q6P675,Q8N3F0,AAI52892,AAI56840,NP_690006,EAL24456,EAW93934,EAW93935 Hs.200100 Ells1|FLJ25903 protein-coding 1602880 C7orf42 chromosome 7 open reading frame 42 14702039,12690205,12477932,9373149,8125298 55069 NM_017994,AC073335,AC079920,CH236961,CH471140,AK000961,AK023152,AK222774,BC008675,BC010519,BC012562,BC022841,BC041764,CR597424,CR599630,CR601188,CR605328,CR617678,CR619707,CR621623,CR625939 NP_060464,EAL23731,EAX07907,EAX07908,EAX07909,BAA91444,BAD96494,AAH08675,AAH10519,AAH12562,AAH41764,Q9NWD8 Hs.488478 FLJ10099|FLJ13090 protein-coding 1605367 C7orf43 chromosome 7 open reading frame 43 16381901,15489336,15489334,14702039,12690205,12477932,11256614,11230166,11076863 55262 NM_018275,AC073842,CH236956,CH471091,AK001787,AK054872,AL136555,BC002749,BC015722,BC094727 NP_060745,EAL23848,EAW76580,EAW76581,EAW76582,EAW76583,BAA91911,CAB66490,AAH02749,AAH15722,Q0JUF8,Q8WVR3,CAL37853 Hs.533139 DKFZp761G0712|FLJ10925 protein-coding 1601863 C7orf44 chromosome 7 open reading frame 44 14702039,12477932 55744 NM_018224,AC005189,CH236951,CH471073,AK001665,AK021905,AK023007,AK023053,AK097203,AK124008,AK127933,AK129690,AK293043,BC001743,BC056884,CR595635,CR595881,CR603814,CR605376,CR608336 NP_060694,EAW94165,EAW94166,EAW94167,EAW94168,EAW94169,EAW94170,BAA91821,BAB13932,BAB14356,BAB14379,BAF85732,AAH56884,Q9GZY4 Hs.654779,Hs.655165,Hs.658441 FLJ10803 protein-coding 1604235 C7orf45 chromosome 7 open reading frame 45 15489334,14702039,12690205,12477932 136263 NM_145268,AC024085,AC087071,CH236950,CH471070,AK097635,BC017587 NP_660311,EAL24093,EAW83750,BAC05126,AAH17587,Q8WWF3 Hs.351816 FLJ40316 protein-coding 1604475 C7orf46 chromosome 7 open reading frame 46 12477932 340277 NM_199136,AC006026,CH236948,CH471073,AK127774,AL832127,BC026000,BC042034,BC063130 NP_954587,EAL24251,EAW93797,EAW93798,EAW93799,EAW93800,EAW93801,EAW93802,EAW93803,EAW93804,BAC87127,AAH26000,AAH42034,AAH63130,A4D161,Q6ZS28 Hs.592178 DKFZp686F0810|FLJ45875|MGC72075 protein-coding 1604503 C7orf47 chromosome 7 open reading frame 47 15489334,12690205,12477932 221908 NM_145030,AC092849,CH236956,CH471091,BC026269,CR590290,CR592195,CR596687 NP_659467,EAL23833,EAW76532,AAH26269,Q8TAP8 Hs.413359 MGC22793 protein-coding 1602100 C7orf49 chromosome 7 open reading frame 49 12690205,12477932 78996 NM_024033,AC083862,CH236950,CH471070,AK026103,AK130795,BC000168,BC067350,CR596076,CR611158,CR618418,CR623550,CR626422 NP_076938,EAL24064,EAW83840,EAW83841,BAC85431,AAH00168,AAH67350,Q9BWK5 Hs.521213 FLJ22450|FLJ27285|MGC5242 protein-coding 1603950 C7orf50 chromosome 7 open reading frame 50 16189514,12477932 84310 NM_032350,AC073957,AC091729,CH236953,CH236965,CH471144,AF495721,BC006224,BC025971,CR596689,CR600810,CR602461,CR610454,CR622011,CR622684 NP_115726,EAW87188,EAW87189,AAQ06675,AAH06224,AAH25971,Q8TAS9,Q9BRJ6 Hs.653258 MGC11257|YCR016W|mgc11257 hypothetical protein mgc11257 protein-coding 1602420 C7orf51 chromosome 7 open reading frame 51 14702039,12690205 222950 NM_173564,AC069281,AC092849,CH236956,CH471091,AK094857,AK124773,AY375450 NP_775835,EAL23830,EAW76526,BAC04437,BAC85942,AAQ83634,Q6ZVC0 Hs.320086 FLJ37538 protein-coding 1601690 C7orf52 chromosome 7 open reading frame 52 14702039,12477932 375607 NM_198571,AC004876,CH471197,AK096556,AL831911,BC104841 NP_940973,EAW50202,BAC04815,CAD38574,AAI04842,Q8N8M0 Hs.213044 DKFZp547K159|FLJ39237 protein-coding 1606916 C7orf53 chromosome 7 open reading frame 53 14702039,12690205,12477932 286006 BC031976,BC126149,BC130568,NM_182597,AC005192,CH236947,CH471070,AK096894 AAH31976,AAI26150,AAI30569,Q8N8F7,NP_872403,EAL24374,EAW83464,EAW83465,BAC04886 Hs.396189 FLJ39575|MGC161427|MGC163440|MGC42850 protein-coding 1602003 C7orf54 chromosome 7 open reading frame 54 14702039,12690205,12477932 27099 NM_014411,AC008039,CH236947,AF095687,AF191492,AK024176,BC093748,BC112141 NP_055226,EAL24317,AAC96312,AAG28385,AAH93748,AAI12142,O95358,Q9HBX3 Hs.657377 MGC138346|NAG8|NSG-X protein-coding 1606950 C7orf55 chromosome 7 open reading frame 55 16381901,15489336,12853948,12477932,11076863 154791 NM_197964,AC083880,CH236950,CH471070,AF161386,BC008467 NP_932068,AAS07478,EAW83912,EAW83913,EAW83914,EAW83915,AAF28946,AAH08467,Q96HJ9,CAL38025,ABM84075,ABM87443 Hs.370475 HSPC268 protein-coding 1642900 C7orf57 chromosome 7 open reading frame 57 12477932 136288 NM_001100159,AC069279,CH236958,BC031107,BC045737 NP_001093629,AAH31107,AAH45737,Q86XB5,Q8NEG2 Hs.258357 protein-coding 1605333 C7orf58 chromosome 7 open reading frame 58 11256614,16381901,16341674,15489336,14702039,12975309,12853948,12477932,11230166,11076863,9373149,8125298,7829101 79974 NM_001105533,AC004537,AC006364,AC006976,AC073145,CH236947,CH471070,AK025639,AK055624,AK130323,AK225313,AK289978,AL832619,AL832638,AY358220,AY780785,BC017764,BC018685,BC030538,BC046360,BI496654,BQ082412,NM_024913 NP_079189,NP_001099003,AAS02027,EAL24348,EAW83550,EAW83551,EAW83552,EAW83553,EAW83554,EAW83555,BAB15198,BAB70974,BAF82667,CAD89961,CAD89953,AAQ88587,AAV98355,AAH30538,AAH46360,A4D0V7,Q5MJQ4,Q75MM9,Q86SV3,Q9H6Q5,CAL37422 Hs.189652 FLJ21986|FLJ26813 protein-coding 1318077 C8A complement component 8, alpha polypeptide C8 is a component of the complement system and is comprised of three polypeptides, alpha (C8A), beta and gamma. C8 participates in the formation of Membrane Attack Complex (MAC). 1600501,1580863 17872444,16935577,16761437,16710414,16618117,16335952,12477932,12463754,12220191,11297196,11041874,10551839,10387094,9647238,3052276,6771072,2820471,12413696,7759071,7649542,7544344,7440581,4063341,3624872,3171181,1551680 1600501 731 NM_000562,AL121998,CH471059,U08006,BC020702,BC132911,BC132913,M16974 NP_000553,CAI19172,EAX06644,EAX06645,EAX06646,AAA82124,AAH20702,AAI32912,AAI32914,AAA52200,P07357,Q05CV2 Hs.93210 GDB:119735 protein-coding 1352674 C8B complement component 8, beta polypeptide C8 beta is one of the three subunits that comprise the component 8 (C8) of the complement system. C8 participates in the formation of Membrane Attack Complex that results in the lysis of cells. Patients with C8B deficiency are prone to bacteria infection. 1600501,1580863 3052276,2820472,16710414,16618117,16335952,16199891,12477932,12413696,12220191,11041874,10551839,10387094,9476128,8345200,8131848,8098723,7440581,3651397,3624872,3171181 1600501 732 NM_000066,NG_007285,AL121998,CH471059,AK292740,BC020701,BC130575,CD364465,M16973,X04393 NP_000057,CAC18532,EAX06641,EAX06642,EAX06643,BAF85429,AAH20701,AAI30576,AAA51862,CAA27981,P07358,Q05CV3 Hs.391835 GDB:119736 MGC163447 protein-coding 1319211 C8G complement component 8, gamma polypeptide C8G is one of the three polypeptides that constitute C8, a component of the complement system. C8 participates in the formation of Membrane Attack Complex (MAC). Patients with deficiency in C8 are vulnerable to certain bacteria infection. 1580863 10387094,9476128,8865989,3676249,2447883,2446620,1707134,11041874,8172891,3052276,17452033,16935577,16618117,16341674,15164053,12477932,12413696,12220191,12033936,11058761 733 AL807752,CH471090,U08198,AW663384,BC113624,BC113626,BM852158,BX282392,M17263,M17999,X06465,NM_000606 NP_000597,CAI12748,CAI12749,EAW88316,AAA18482,AAI13625,AAI13627,AAA51888,AAA51863,CAA29773,P07360,Q14CT8,Q14CU0 Hs.1285 GDB:119737 C8C|MGC142186 protein-coding 1353709 C8orf12 chromosome 8 open reading frame 12 12477932,11896452 83656 Q96KT0 BC080558,AJ301563 CAC82739,Q96KT0 Hs.583896 GDB:11504921 protein-coding 1344184 C8orf13 chromosome 8 open reading frame 13 18204098,12477932,11896452 83648 NM_053279,AF131216,CH471157,AJ301564,AK290704,AL157475,AL522457,AL834122,BC029587,BC048214,BC104041,BC104042,BC104043 NP_444509,EAW65616,CAC82740,BAF83393,CAB75670,CAD38843,AAH48214,AAI04042,AAI04043,AAI04044,Q86Y02,Q96KS9 Hs.124299 D8S265|DKFZp761G151|MGC120649|MGC120650|MGC120651 protein-coding 1346760 C8orf14 chromosome 8 open reading frame 14 11896452 83655 AJ291678 CAC82745,Q96KT6 Hs.145579 GDB:11504917 VIR35 protein-coding 1605484 C8orf15 chromosome 8 open reading frame 15 12477932 439940 NM_001033662,AF131215,CH471157,AJ312027,BC132953,BC132979 NP_001028834,EAW65602,CAC84874,AAI32954,AAI32980,Q8TCU8 Hs.661517 protein-coding 1352401 C8orf16 chromosome 8 open reading frame 16 83735 AJ312026 1354286 C8orf17 chromosome 8 open reading frame 17 56988 NM_020237,AF220264 GDB:11505350 1349468 C8orf22 chromosome 8 open reading frame 22 15489334,12477932 492307 NM_001007176,AC044893,CH471068,AJ276240,BC017981,BX500169 Q8WWR9,NP_001007177,EAW86701,EAW86702,EAW86703,CAC81690,AAH17981 Hs.49890 protein-coding 1602718 C8orf30A chromosome 8 open reading frame 30A 16169070,15489334,14702039,12477932,11042152 51236 NM_016458,AC104592,CH471162,AF151022,AK098226,BC003035,BC009915,BC015471 NP_057542,EAW82148,AAF36108,AAH03035,AAH09915,AAH15471,Q96BK8,Q9BTY7,Q9P0T5 Hs.300224 FLJ40907 protein-coding 2291788 C8orf30B chromosome 8 open reading frame 30B 728071 XM_001126758,AC110280 XP_001126758 protein-coding 1606663 C8orf31 chromosome 8 open reading frame 31 14702039,12477932 286122 AC083982,NM_173687,CH471162,AK094450,BC063497,BC073830,BC120993 NP_775958,EAW82281,EAW82282,EAW82283,BAC04358,AAH73830,Q8N9H6 Hs.660382 FLJ37131|MGC90155 protein-coding 1602877 C8orf32 chromosome 8 open reading frame 32 16713569,16189514,14702039,12477932,9373149,8125298 55093 NM_018024,AC021305,CH471060,AK001066,AK225643,BC008781,CR600640 NP_060494,EAW92037,EAW92038,EAW92039,BAA91488,AAH08781,Q96HA8 Hs.18029 FLJ10204 protein-coding 1606509 C8orf33 chromosome 8 open reading frame 33 16344560,12477932 65265 NM_023080,AC139103,CH471162,AF086170,AK024642,BC010001,BC015181,BX648996,CR457330,CR598287,DA467518 NP_075568,EAW82022,EAW82023,BAB14943,AAH10001,AAH15181,CAG33611,Q9H7E9 Hs.169615 FLJ20989 protein-coding 1605303 C8orf34 chromosome 8 open reading frame 34 14702039,12477932 116328 NM_052958,AC011884,AC067871,AC083967,AC090096,CH471068,AB056652,AK094191,AK291436,AL834454,BC041961 NP_443190,EAW86945,EAW86946,EAW86947,EAW86948,EAW86949,BAB64433,BAC04304,BAF84125,CAD39114,AAH41961,Q49A92 Hs.491941 DKFZp547E186|FLJ36872|VEST1|vest-1 protein-coding 1606135 C8orf37 chromosome 8 open reading frame 37 14702039,12477932 157657 NM_177965,AC024995,AP003466,CH471060,AK055162,BC036855,BC150301 NP_808880,EAW91744,EAW91745,BAB70866,Q96NL8 Hs.548157 FLJ30600 protein-coding 1603903 C8orf38 chromosome 8 open reading frame 38 15342556,12477932 137682 CH471060,AA625387,AY444560,BC028166,BP275471,BQ447469,CR594623,CR619997,CR621219,NM_152416,AC068189 EAW91733,EAW91734,EAW91735,EAW91736,EAW91737,EAW91738,AAS68536,AAH28166,Q330K2,ABM82567,ABM85756,NP_689629 Hs.435500 MGC40214 protein-coding 1602216 C8orf39 chromosome 8 open reading frame 39 55472 Q9P1G2 AF116672 AAF71092,Q9P1G2 Hs.192788 PRO1905 protein-coding 1346279 C8orf4 chromosome 8 open reading frame 4 This gene encodes a small, monomeric, predominantly unstructured protein that functions as a positive regulator of the Wnt/beta-catenin signaling pathway. This protein interacts with a repressor of beta-catenin mediated transcription at nuclear speckles. It is thought to competitively block interactions of the repressor with beta-catenin, resulting in up-regulation of beta-catenin target genes. 17905836,17603013,17520678,17178857,16740781,16424001,15489334,15185345,15087392,12477932,11056052,8889548 56892 AI861861,AK026240,BC020623,BC021672,BM976768,CR594872,CR600720,CR602517,CR607025,CR616793,CR618129,CR619771,CR620271,CR622918,NM_020130,AC022733,AF268038,CH471080,AF268037 AAH20623,AAH21672,Q9NR00,NP_064515,EAW63268,AAF78961 Hs.591849 GDB:11504792 MGC22806|TC-1|TC1|hTC-1 protein-coding 1602660 C8orf40 chromosome 8 open reading frame 40 15489334,12477932 114926 NM_138436,AC090739,CH471080,BC013035,CR616059,CR619782 NP_612445,EAW63209,EAW63210,EAW63211,EAW63212,AAH13035,Q96E16 Hs.655320 protein-coding 1604785 C8orf41 chromosome 8 open reading frame 41 16344560,15489334,14702039,12477932 80185 NM_001102401,NM_025115,AC091144,CH471080,CS300619,AI890434,AK026916,AL530920,BC007387,BC066935,BX648410,CR598770,CR609158,CR613354,DA617987,DB047280,DB112682,DB113350 NP_001095871,NP_079391,EAW63397,EAW63398,EAW63399,CAK32283,BAB15590,AAH07387,AAH66935,Q6NXR4 Hs.77135 FLJ23263 protein-coding 1602978 C8orf42 chromosome 8 open reading frame 42 12477932 157695 NM_175075,AC083964,AC090135,AC090691,CH471181,AY194292,BC033779,BX648606,DR003272 NP_778250,EAW51462,AAO23974,Q86YL5 Hs.289293 DKFZp686J15216|INM01 protein-coding 1602380 C8orf43 chromosome 8 open reading frame 43 12477932 619434 BC008253 protein-coding 1606262 C8orf44 chromosome 8 open reading frame 44 15489334,14702039,12477932 56260 NM_019607,AC090154,CH471068,AK002129,BC014448 NP_062553,EAW86917,EAW86918,BAA92096,AAH14448,Q96CB5 Hs.661238 FLJ11267 protein-coding 1605856 C8orf45 chromosome 8 open reading frame 45 15489334,12477932 157777 NM_173518,AC011031,CH471068,AK098558,AL833526,BC034576,BC063108,BX537587 NP_775789,EAW86921,EAW86922,EAW86923,BAC05333,AAH34576,AAH63108,CAD97790,Q4G0Z9,Q8N7F5 Hs.437006 FLJ25692 protein-coding 1601708 C8orf46 chromosome 8 open reading frame 46 12477932,15489334,14702039 254778 AC009879,CH471068,AK055047,AK096336,BC028400,NM_152765 EAW86908,EAW86909,EAW86910,AAH28400,Q8TAG6,NP_689978 Hs.268869 MGC33510 protein-coding 1606129 C8orf47 chromosome 8 open reading frame 47 14702039,12477932 203111 NM_173549,AP003352,AP003439,CH471060,AK096872,BC062359,CR621279 NP_775820,EAW91772,EAW91773,BAC04880,AAH62359,Q6P6B1 Hs.171455 FLJ39553 protein-coding 1604869 C8orf49 chromosome 8 open reading frame 49 14702039 606553 Q96NF6 NM_001031839,AC069185,CH471157,AK055534,BC132945 NP_001027009,EAW65622,BAB70943,AAI32946,Q96NF6 Hs.545529 FLJ30972 protein-coding 1349776 C8orf5 chromosome 8 open reading frame 5 203080 NM_182754,AJ305312 1601799 C8orf50 chromosome 8 open reading frame 50 12477932 340414 BC043205 Hs.667366 protein-coding 1601941 C8orf53 chromosome 8 open reading frame 53 14702039,12477932 84294 NM_032334,AP002905,CH471060,AK055279,BC005955,BC022441 NP_115710,EAW91960,EAW91961,EAW91962,BAB70896,AAH05955,AAH22441,Q9BRU9 Hs.86970 MGC14595 protein-coding 1605483 C8orf54 chromosome 8 open reading frame 54 14702039 439941 Q8NA97 NM_001038706,AC090753,AC100871,CH471060,AK093040 NP_001033795,EAW92055,BAC04029,Q8NA97 Hs.683919 FLJ35721 protein-coding 1602485 C8orf55 chromosome 8 open reading frame 55 16341674,16303743,14702039,12477932 51337 BC001311,BC019104,BM744164,CR598424,CR626619,NM_016647,AC083841,AC108002,CH471162,AF242773,AK055140,AK075407 BAC11600,AAH01311,AAH19104,Q8WUY1,NP_057731,EAW82309,AAF65450 Hs.368402 DSCD75 protein-coding 1603174 C8orf56 chromosome 8 open reading frame 56 12477932 157556 BC029562 Q8N2Z0 Hs.459124 MGC39526 protein-coding 1601950 C8orf57 chromosome 8 open reading frame 57 11230166 84257 Q9BQG3 AL136588 CAB66523,Q9BQG3 Hs.492187 DKFZp761D112 protein-coding 1604880 C8orf58 chromosome 8 open reading frame 58 14702039,12477932 541565 NM_001013842,AC037459,AK092034,BC012750,BI910955,CR595864,CR608004 NP_001013864,BAC03795,AAH12750,Q7Z758,Q8NAV2 Hs.553539 FLJ34715 protein-coding 1604140 C8orf59 chromosome 8 open reading frame 59 16344560,16341674,15146197,12477932,11597177 401466 BC032347,BC055092,BC062221,BG926519,BM785759,CN280666,DB094478,NM_001099673,NM_001099670,NM_001099671,NM_001099672,AC011773,CH471068 EAW87127,AAH32347,Q8N0T1,NP_001093143,NP_001093140,NP_001093141,NP_001093142,EAW87124,EAW87125,EAW87126 Hs.443072 protein-coding 1353747 C8orf6 chromosome 8 open reading frame 6 203081 NM_145656 1602379 C8orf61 chromosome 8 open reading frame 61 14702039 619435 Q8N8I7 NM_001034061,AC100810,AK096736 NP_001029233,BAC04854,Q8N8I7 Hs.591392 FLJ39417 protein-coding 1602381 C8orf66 chromosome 8 open reading frame 66 619427 AL834492 Hs.638555 DKFZp434O0331 protein-coding 1605450 C8orf68 chromosome 8 open reading frame 68 12477932 619343 XM_927505,XM_001721201,XM_001719813,AC026950,AC100797,AC110288,AC120035,AC129915,AF067845,BC022082,BC038783 XP_932598,XP_001721253,XP_001719865 Hs.667939 protein-coding 1602891 C8orf70 chromosome 8 open reading frame 70 16964243,15489334,12477932,10810093 51101 NM_016010,AC100854,CH471068,AF151820,AK024711,BC009074,BC035905 NP_057094,EAW87059,AAD34057,AAH09074,Q96GY0 Hs.271876 CGI-62 protein-coding 1606806 C8orf71 chromosome 8 open reading frame 71 11230166 26138 Q9Y4M8 XM_496976,XM_938113,AC025674,AL080200 XP_496976,XP_943206,CAB45772,Q9Y4M8 Hs.159352 DKFZP434F122 protein-coding 1603139 C8orf73 chromosome 8 open reading frame 73 16344560,12477932,9776767 642475 NM_001100878,AC067930,AF086255,AF289596,AK292180,AL040647,BC029031,BM148864,BX341537,CD579780,CR606189,DB003146,DN831781 NP_001094348,AAL55780,BAF84869,A6NGR9,Q8WYZ6 Hs.531406 protein-coding 1606427 C8orf74 chromosome 8 open reading frame 74 15489334,12477932 203076 NM_001040032,AC105001,CH471157,AK131443,BC038534,BC065837,BC132852,BC132854 NP_001035121,EAW65593,AAH65837,AAI32853,AAI32855,Q6P047 Hs.371776 protein-coding 1602606 C8orf75 chromosome 8 open reading frame 75 12477932 619351 BC003524,BC014230 AAH03524,Q9BTQ3 Hs.566911 protein-coding 1602854 C8orf76 chromosome 8 open reading frame 76 15489334,14702039,12477932,9373149 84933 NM_032847,AC068228,CH471060,AK027731,AK222660,BC012379,BC067796,CR593173,CR594463,CR604160 NP_116236,EAW92026,BAB55327,BAD96380,AAH12379,AAH67796,Q96EF9,Q96K31 Hs.521800 FLJ14825|MGC9784 protein-coding 1602875 C8orf79 chromosome 8 open reading frame 79 16344560,15489334,14702039,12477932,10819331 57604 NM_020844,NM_001099677,AC135352,AB040889,AK094299,AK125638,AW295329,BC016633,BC035082,CR613040,DA390356,DC334299,DR001645 NP_065895,NP_001093147,BAA95980,BAC04326,AAH16633,AAH35082,Q8N9K7,Q9P272 Hs.202521 FLJ36980|KIAA1456|MGC43113 protein-coding 1345698 C8orf8 chromosome 8 open reading frame 8 11896452 83647 AJ301561 CAC82737,Q96KT2 Hs.404138 protein-coding 1626574 C8orf80 chromosome 8 open reading frame 80 15592455,15221005,8889548 389643 NM_001010906,AC019031,AC091573,AA482187,AA768146,AB075870,AK129923,BU429067,CF137482 NP_001010906,BAD38652,BAC85251,Q68CJ6 Hs.370129 FLJ26413|HMFN0672 protein-coding 1320687 C9 complement component 9 1580863 2426252,17644516,17482181,16844690,16618117,16335952,16263699,15489334,14760718,12596049,12477932,12463754,11881818,11359403,11027207,10551839,9703418,9634479,9570574,9144525,8603752,8471847,8345200,7523406,6095282,4063341,4018030,3624872,3219351,2744767,2395434,1672663,1377690,8630395 735 NM_001737,AC008846,AC025471,AJ251818,CH471119,J02833,Y08545,BC020721,CB135741,CB157001,K02766,X02176 NP_001728,CAB66087,EAW55986,EAW55987,EAW55988,AAA51890,CAA69849,AAH20721,AAA51889,CAA26117,P02748,Q9UGI4,ABM82336 Hs.654443 GDB:119738 protein-coding 1321248 C9orf100 chromosome 9 open reading frame 100 737633 16344560,14702039,12477932,9373149,16189514 737633 84904 NM_032818,AL357874,CH471071,AK001187,AK027548,AK225501,AK225529,AY390225,AY390226,BC033666,BC038673,CR616792,DB109516 NP_116207,CAI13452,EAW58360,EAW58361,EAW58362,EAW58363,BAB55192,AAR01010,AAR01011,AAH33666,AAH38673,Q5T4R2,Q5T4R3,Q8N4T4 Hs.534579 FLJ14642|MGC44886|RP11-331F9.7 protein-coding 1343550 C9orf101 chromosome 9 open reading frame 101 445578 1606875 C9orf102 chromosome 9 open reading frame 102 16344560,14702039,12477932,11181995 375748 NM_001010895,NM_020207,NM_001034155,AL159167,AL161454,CH471174,AK095025,AL133663,AL389952,AL389953,BC022957,BC035183,BC075860,BG108141,BQ013632,CA425791,CF529128,CR590830,DB153432 NP_001010895,NP_064592,NP_001029327,CAI40281,CAI16514,CAI16517,EAW92635,EAW92636,EAW92637,EAW92639,EAW92640,EAW92641,BAC04478,CAB97530,CAB97543,AAH22957,AAH35183,Q5T890,Q5T891,Q8N663,Q8N9D0,Q9NPP9 Hs.432364,Hs.632686 FLJ37706|MGC30192|MGC43364|RAD26L|SR278 protein-coding 1344134 C9orf102 chromosome 9 open reading frame 102 737633 14702039,12477932 737633 56959 NM_020207,NM_001034155,AL159167,CH471174,AK095025,BC022957,BG108141,BQ013632,CA425791,CF529128 NP_064592,NP_001029327,CAI40281,EAW92639,EAW92640,EAW92641,BAC04478,AAH22957,Q8N663,Q8N9D0 Hs.632686 FLJ37706|RP11-346B7.2|SR278 protein-coding 1347065 C9orf103 chromosome 9 open reading frame 103 12477932 414328 NM_001001551,AL354920,CH471089,AF086281,AY615889,BC036421,BC045782,BC142991 NP_001001551,CAI15097,CAI15098,CAI15099,EAW62654,EAW62655,EAW62656,EAW62657,AAT27441,AAI42992,Q5T6J7,AAI40078,AAI40079 Hs.530261 bA522I20.2 protein-coding 1343126 C9orf104 chromosome 9 open reading frame 104 414316 AL591890 CAI15484,Q5SY13 bA54A22.4 protein-coding 1347873 C9orf105 chromosome 9 open reading frame 105 18331822,15489334,15164053,12477932 401505 AB435233,BC029423,BC034247,DB451927,NM_001001790,AL513165 CAI16153,CAI16154,BAG30953,AAH34247,Q5JRT7,Q8N4H5,NP_001001790 Hs.130774 RP11-263I4.1|Tom5|bA613M10.3 protein-coding 1349578 C9orf106 chromosome 9 open reading frame 106 14702039,12477932 414318 NM_001012715,AL161785,CH471090,AK092588,BC132699,BC132701 NP_001012733,EAW87887,BAC03921,AAI32700,AAI32702,Q8NAJ2 Hs.449434 bA65J3.5 protein-coding 1351537 C9orf107 chromosome 9 open reading frame 107 12477932 414319 BC038565 Hs.385790 bA785H23.1 protein-coding 1344676 C9orf109 chromosome 9 open reading frame 109 286333 XM_001718432,XM_001717211,AL449105,AK127516,AL832752,BX647840 XP_001718484,XP_001717263 Hs.99052 DKFZp686A0127 protein-coding 1342522 C9orf11 chromosome 9 open reading frame 11 16831425,12477932,11118625 54586 NM_020641,AL133411,CH471071,AJ278482,BC014307,BC137351,BC137352 NP_065692,CAD13444,CAI16056,EAW58566,EAW58567,EAW58568,CAC00687,AAH14307,AAI37352,AAI37353,Q9NQ60 Hs.163070 GDB:11510688 Afaf protein-coding 1603808 C9orf110 chromosome 9 open reading frame 110 14702039 401549 XM_379664,AL449105 XP_379664 protein-coding 1343592 C9orf114 chromosome 9 open reading frame 114 737633 15489334,15164053,12477932,11790298,11042152 737633 51490 CR599269,CR600459,CR606465,CR612717,CR616507,CR623306,NM_016390,AL441992,CH471090,AF161459,AL110193,BC010579,BC021273,BC033677,BC039590,BC046133,BC056890,BC063644 Q5T280,Q9P041,NP_057474,CAI15413,EAW87838,EAW87839,AAF29074,AAH10579,AAH21273,AAH33677,AAH39590,AAH46133,AAH63644 Hs.224137 DKFZP566D143|HSPC109|MGC29492|RP11-545E17.7 protein-coding 1353369 C9orf116 chromosome 9 open reading frame 116 737633 15489334,15164053,14702039,12477932 737633 138162 NM_001048265,NM_144654,AL161452,CH471090,AI367252,AI873313,AK024007,AY927868,BC021261,DR003074 NP_001041730,NP_653255,CAI14048,CAI14049,CAI14050,EAW88154,EAW88155,AAX22217,AAH21261,Q5BN46,ABM83710,ABM87030 Hs.414028 FLJ13945|MGC29761|RP11-426A6.4 protein-coding 1343575 C9orf117 chromosome 9 open reading frame 117 14702039,12477932 286207 NM_001012502,AL162426,CH471090,AK094948,AK126437,AL833241,BC133027,BC141809 NP_001012520,EAW87682,EAW87683,EAW87684,BAC86549,AAI33028,AAI41810,Q5JU67,Q6ZTN7 Hs.652519 RP11-56D16.5 protein-coding 1348246 C9orf118 chromosome 9 open reading frame 118 414312 AL161728 CAH72691 bA342C23.1 protein-coding 1350090 C9orf119 chromosome 9 open reading frame 119 737633 12477932 737633 375757 NM_001040011,AL590708,BC029911,DQ414820 NP_001035100,CAI13840,CAI13843,CAI13844,AAH29911,ABD72916,Q1ZZU3 Hs.259594 bA395P17.9 protein-coding 1349151 C9orf120 chromosome 9 open reading frame 120 414322 1346449 C9orf122 chromosome 9 open reading frame 122 737633 15164053,12477932 737633 158228 Q5SY85 XM_379636,XM_940165,AL591543,BC036230,BC041970,BC067887 XP_379636,XP_945258,CAI17286,Q5SY85 Hs.632652 protein-coding 1319327 C9orf123 chromosome 9 open reading frame 123 737633 15489334,15164053,12477932 737633 90871 NM_033428,AL354694,CH471071,AK292632,AL137489,BC009510,BI550091 NP_219500,CAI16700,EAW58728,BAF85321,CAB70768,AAH09510,Q96GE9 Hs.7517 MGC4730 protein-coding 1316281 C9orf125 chromosome 9 open reading frame 125 737633 15489334,15164053,12477932 737633 84302 Q24K26,Q9BRR3 NM_032342,AL353621,CH471105,BC006115,BC033550,BC113967,CR605218,CR613609 NP_115718,CAI14616,EAW58953,EAW58954,AAH06115,AAH33550,AAI13968,Q24K26,Q9BRR3 Hs.655738 MGC12992 protein-coding 1316447 C9orf126 chromosome 9 open reading frame 126 15164053,14702039,12477932 286205 NM_173690,AL445930,AL451125,CH471090,AF086497,AK093983,AK098024,BC029431,BC104030,BC104031,BC104032 NP_775961,CAI13674,CAI14348,EAW87608,EAW87609,BAC04261,BAC05217,AAI04031,AAI04032,AAI04033,Q3SXZ0,Q3SXZ1,Q3SXZ2,Q8N9R8 Hs.59504 FLJ36664|MGC120525|MGC120526|MGC120528 protein-coding 1320668 C9orf127 chromosome 9 open reading frame 127 17641538,15498789,12918109,12477932,12474055,11565907,9110174,8619474 51754 NM_016446,NM_001042589,NM_001042590,AL133410,CH471071,CQ783981,AF070572,AF188239,AK074844,BC041377,BC043384,BC064951,BC082765,BC098265,BC098296,BC099733,CR608738 NP_057530,NP_001036054,NP_001036055,CAI10994,CAI10995,CAI10996,EAW58325,EAW58326,EAW58327,EAW58328,CAF86955,AAC28644,AAG29055,AAH41377,AAH98265,AAH98296,AAH99733,Q5TCW0 Hs.493808 MGC120460|NAG-5|NGX6|RP11-112J3.10 protein-coding 1321320 C9orf128 chromosome 9 open reading frame 128 12477932,11207361 392307 NM_001012446,AF334830,AL133410,CH471071,BC146808,BX648702 NP_001012448,CAI10992,EAW58329,EAW58330,AAI46809,A6H8Z2,Q5TCW2 Hs.128075 protein-coding 1350389 C9orf129 chromosome 9 open reading frame 129 445577 NM_001098808,AL583839 NP_001092278,CAI12343,Q5T035 Hs.575636 bA165J3.3 protein-coding 1353553 C9orf130 chromosome 9 open reading frame 130 15164053,14702039 100128782 XM_001732875,AL161454,CH471174,AF170307,AF194971,AK092137,XM_379656,XM_001724349,XM_939697,XM_001722853 XP_001722905,XP_001732927,EAW92634,AAL35407,AAL35408,Q8WZ93,Q8WZB0,XP_379656,XP_001724401,XP_944790 Hs.494549 FLJ34818|NAG11|NAG12 protein-coding 1604527 C9orf131 chromosome 9 open reading frame 131 16344560,14702039,12477932 138724 NM_001040412,NM_001040411,NM_203299,NM_001040410,AL353795,AK090398,AK097595,AL133575,BC045643,DB072610,DB091135,DB093341,DB096349 NP_001035502,NP_001035501,NP_976044,NP_001035500,BAC03379,CAB63722,AAH45643,Q5VYM1 Hs.148250 FLJ00273|MGC41945 protein-coding 1625806 C9orf133 chromosome 9 open reading frame 133 548324 AL353671 protein-coding 1351856 C9orf134 chromosome 9 open reading frame 134 406876 AL162232 CAH71315,Q5VZ72 bA20A20.1 protein-coding 1605872 C9orf135 chromosome 9 open reading frame 135 16335952,15164053,12477932 138255 NM_001010940,AL162412,AL591215,AL603625,CH471089,AA416734,BC136709,BC150564,CD684431 NP_001010940,CAI10946,EAW62492,AAI36710,AAI50565,Q5VTT2 Hs.444459 protein-coding 1603806 C9orf139 chromosome 9 open reading frame 139 14702039,12477932 401563 NM_207511,NG_007527,AL807752,CH471090,AK093587,AK124899,BC132809 NP_997394,CAI12773,EAW88334,BAC04202,BAC85986,AAI32810,Q6ZV77 Hs.522509 FLJ36268|FLJ42909 protein-coding 1349797 C9orf14 chromosome 9 open reading frame 14 17099875 158035 XM_376821,XM_938938,AL133411,AF418573 XP_376821,XP_944031 Hs.201554 GDB:11510692 protein-coding 1345696 C9orf140 chromosome 9 open reading frame 140 737633 17525738,12477932 737633 89958 NM_178448,AL807752,CH471090,BC009435,BC018901,BC024299,BC042162,BC048267,DQ150361 NP_848543,CAI12778,EAW88338,EAW88339,AAH09435,AAH48267,AAZ39408,Q86UD0,Q96GJ3 Hs.19322 p42.3 protein-coding 1641964 C9orf141 chromosome 9 open reading frame 141 203235 NM_001101674,XM_117514,AL807752 XP_117514,NP_001095144,CAI12755,Q5SQ13 protein-coding 1606404 C9orf142 chromosome 9 open reading frame 142 12477932 286257 NM_183241,AL807752,CH471090,BC002613,BC038191,CR604207,CR625766 NP_899064,CAI12761,EAW88324,EAW88325,EAW88326,EAW88327,EAW88328,AAH02613,AAH38191,Q9BUH6 Hs.409582 protein-coding 1626519 C9orf147 chromosome 9 open reading frame 147 100113405 AK131020 Hs.662552 bA32M23.3 protein-coding 1344533 C9orf148 chromosome 9 open reading frame 148 12477932 401550 BC039180 Hs.644347 protein-coding 1317610 C9orf150 chromosome 9 open reading frame 150 15489334,15221005,15164053,14702039,12766061,12477932 286343 NM_203403,AL138753,AL157828,AB073606,AK074752,AK095824,BC036923,BE464662,BM739457,BX508229,CD678148,CR607491 NP_981948,CAH73439,BAD38643,BAC11180,BAC04633,AAH36923,Q8IV03 Hs.445356 FLJ38505|FLJ90271|HYST0841|MGC46502|bA3L8.2 protein-coding 1318524 C9orf151 chromosome 9 open reading frame 151 401560 AA916420,BI827090 Hs.528581 bA413M3.2 protein-coding 1342470 C9orf152 chromosome 9 open reading frame 152 15851553,15489334,15164053,12477932 401546 NM_001012993,AL353598,CH471105,AK290278,BC110807,BX648492,BX648620,CD722791 NP_001013011,EAW59058,BAF82967,AAI10808,Q5JTZ5,ABZ92215 Hs.125608 MGC131682|bA470J20.2 protein-coding 1604152 C9orf153 chromosome 9 open reading frame 153 15489334,15164053,12477932 389766 NM_001010907,AL137849,CH471089,BC108665 NP_001010907,CAI14922,CAI14923,EAW62710,EAW62711,AAI08666,Q5TBE3 Hs.632073 MGC131702|bA507D14.1 protein-coding 1352712 C9orf155 chromosome 9 open reading frame 155 497260 NM_001099268,AL161447 CAH73151,NP_001092738 FLJ23608|bA379P1.3 protein-coding 1313441 C9orf156 chromosome 9 open reading frame 156 14702039,12477932,11042152,9153233 51531 NM_016481,AL499604,CH471105,AF151053,AK000213,AK023069,AY189280,BC002863,CR604210,CR605882,CR620447,X86033 NP_057565,CAI12804,CAI12805,CAI12806,CAI12807,EAW58858,EAW58859,EAW58860,AAF36139,BAA91013,AAO86724,AAH02863,CAA60025,Q5T114,Q6Y2L2,Q9BU70,ABM83909,ABM87230 Hs.9196 HSPC219|NAP1|RP11-23B15.3 protein-coding 1342591 C9orf16 chromosome 9 open reading frame 16 16964243,16189514,15489334,15146197,14702039,12477932,10369878 79095 NM_024112,AL590708,CH471090,Y17449,Y17450,AK022885,BC001857,BC008887,CN360246,CR601282,DB493059 NP_077017,CAI13825,EAW87751,CAB44366,CAB44344,AAH01857,AAH08887,Q5SYV8,Q9BUW7,Q9Y3F6 Hs.522412 GDB:11505354 EST00098|FLJ12823|MGC4639 protein-coding 1602292 C9orf163 chromosome 9 open reading frame 163 17353931,14702039,12477932 158055 AK055336,AK094098,BC036221,BC117152,BC117154,NM_152571,AL592301,CH471090 EAW88240,BAB70904,BAC04285,AAI17153,AAI17155,Q8N9P6,Q96NJ1,NP_689784,CAM19028 Hs.212613 FLJ36779|RP11-413M3.11 protein-coding 1602164 C9orf164 chromosome 9 open reading frame 164 15164053,14702039 349236 NM_182635,AL929575,AJ420442,AK090804,AK091601,AK097056,AK128342 NP_872441,CAI95794,BAC04938,Q8N8B0 Hs.494406 FLJ39737 protein-coding 1603336 C9orf165 chromosome 9 open reading frame 165 12975309,12477932 375704 NM_198573,AL160270,CH471071,AI554721,AY358658,BC022101,BQ932712,BX111579 NP_940975,EAW58452,AAQ89021,AAH22101,Q6UWT2 Hs.522085 UNQ470 protein-coding 1604863 C9orf166 chromosome 9 open reading frame 166 15164053 642968 NM_001080515,BX629352 NP_001073984,P0C2L3,AAI52888,AAI56626,AAI56837 Hs.173134 protein-coding 1606545 C9orf167 chromosome 9 open reading frame 167 14702039 54863 NM_017723,BX255925,AK000252,AK000392,AK023361 NP_060193,CAM24150,BAA91032,Q9NXH8 Hs.495541 FLJ20245|RP13-122B23.4 protein-coding 1317107 C9orf18 chromosome 9 open reading frame 18 254956 NM_198469,AL162423,AL162424,CH471090,AK128877,BC133690 NP_940871,CAI14702,CAI14705,EAW87512,EAW87513,EAW87514,BAC87653,AAI33691,Q5T7S4,Q5VZ52 Hs.71428 GDB:11505360 C9orf113|FLJ46909|RP11-498E2.5 protein-coding 1316497 C9orf19 chromosome 9 open reading frame 19 16303743,15489334,15164053,14702039,12477932,12137952,11865038 152007 CR626824,CR749781,NM_022343,AL158830,CH471071,CQ783112,AJ011129,AK074488,AK075091,AK091288,AY039756,BC017918,CR596375,CR615709,CR622270 CAH18647,Q68CU1,Q9H4G4,NP_071738,CAH73678,CAH73679,EAW58315,EAW58316,EAW58317,CAF86319,CAC12812,BAC11019,BAC11395,AAK83460,AAH17918 Hs.493819 GAPR-1|GLIPR2 protein-coding 1313944 C9orf21 chromosome 9 open reading frame 21 16341674,15164053,12234665 195827 NM_153698,AL353578,CH471174,BC136503,BF445089,BK000255,BM843088,BU631382 NP_714542,CAI40533,CAI40534,CAI40535,EAW92661,EAW92662,EAW92663,AAI36504,DAA00065,Q7RTV5 Hs.44640 GDB:11510694 protein-coding 1315272 C9orf23 chromosome 9 open reading frame 23 This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. 15489334,15164053,12477932 138716 NM_148179,NM_148178,AL160270,CH471071,CS072470,AL528391,BC032136,BQ224958,CR619309 NP_680545,NP_680544,CAI13161,EAW58443,EAW58444,CAI93608,AAH32136,Q8N5L8 Hs.15961 MGC29635|bA296L22.5 protein-coding 1322222 C9orf24 chromosome 9 open reading frame 24 This gene was isolated using microarray hybridization to screen for gene expression differences between fetal and adult testes. The conserved testis development-related genes found in both human and mouse testes may include genes that are likely to be involved in testicular functions, including spermatogenesis. This gene had higher expression in adults, compared to 6-month embryos. The specific function of this gene product has not been determined. Alternative splicing has been observed at this locus and three transcript variants, each encoding a distinct isoform, have been identified. 15862967,15242845,14702039,12477932,12029067,9373149,8125298 84688 NM_147168,NM_147169,AL356494,CH471071,AF367474,AK058087,AK094751,AK225981,AW961020,NM_032596,BC022084,BC029484 NP_115985,NP_671697,NP_671698,CAI15975,CAI15976,CAI15977,CAI15978,CAI15979,CAI15980,EAW58456,EAW58457,EAW58458,EAW58459,AAK53410,BAB71657,BAC04412,AAH22084,AAH29484,Q5T598,Q8NCR6 Hs.50334 CBE1|MGC32921|MGC33614|NYD-SP22|bA573M23.4 protein-coding 1350147 C9orf25 chromosome 9 open reading frame 25 The protein encoded by this gene has homologs that have been identified in mouse and macaque. The mouse and human proteins have a putative prenyl group binding site (CAAX box) at their C-terminus. A diverse list of proteins are known or strongly presumed to be the target of post-translational modification by the attachment of either a farnesyl or a geranyl-geranyl group to a cysteine residue at the C-terminus. The function of this protein has not been determined. 17081983,15489334,15164053,14702039,12477932,9110174,8619474 203259 NM_147202,AL160270,AL356494,CH471071,AF131828,AK022819,AK026087,AK091262,AK096350,AK123887,AL833397,BC015785,BC025348,BC041009,CR608082,CR612535 NP_671735,CAI13146,CAI13147,CAI13149,CAI13150,CAI13151,CAI13152,CAI13153,CAI15969,CAI15970,CAI15971,CAI15973,CAI15974,EAW58454,EAW58455,AAH15785,AAH25348,AAH41009,Q5T590,Q5T593,Q5T594,Q5T595,Q8IW50,Q96BA6 Hs.493771 FLJ39031|bA573M23.5 protein-coding 1343338 C9orf27 chromosome 9 open reading frame 27 58483 NM_021208,AB021923 1320010 C9orf3 chromosome 9 open reading frame 3 737633 15687497,15489334,15164053,14702039,12477932 737633 84909 NM_032823,AL157936,AL353768,AL354893,AL807757,CH471174,AF043896,AF043897,AJ560639,AK027581,AK057450,BC020194,BC029616,BX648970,CR592311,CR609086,CR626537,CR626738 NP_116212,CAI13038,CAI41123,CAI41124,CAI41125,CAI41126,CAI41127,CAI41325,CAI41326,CAI41327,EAW92618,EAW92619,EAW92620,EAW92621,EAW92622,EAW92623,CAD90259,BAB55210,BAB71491,AAH20194,AAH29616,Q8N6M6 Hs.434253 GDB:10450526 AP-O|APO|C90RF3|FLJ14675 protein-coding 1603187 C9orf30 chromosome 9 open reading frame 30 15334068,14702039,12477932 91283 AL353805,CH471105,AK092292,AY598327,BC008993,CR599657,CR608769,CR616245,NM_080655 CAI12539,CAI12540,CAI12541,CAI12542,EAW58932,EAW58933,EAW58934,AAT06738,AAH08993,Q96H12,NP_542386 Hs.530272 FLJ34973|L8|MGC17337 protein-coding 1603983 C9orf31 chromosome 9 open reading frame 31 15164053 57000 Q9NRJ2 XM_928521,AL513122,AF220263 XP_933614,CAI14412,AAF89164,Q9NRJ2 Hs.522373 MOST2 protein-coding 1606300 C9orf32 chromosome 9 open reading frame 32 15231747,15489334,15164053,12477932,10931946 28989 NM_014064,AL590369,CH471090,AF110776,AI802417,AK290957,AK292332,BC001396,BC033234,BF316784 NP_054783,CAI14507,CAI14508,EAW87893,EAW87894,EAW87895,AAF14859,BAF83646,BAF85021,AAH01396,AAH33234,Q9BV86 Hs.522433 AD-003 protein-coding 1347051 C9orf33 chromosome 9 open reading frame 33 90477 O75562,Q5JUI2 AF072164,AL160054 AAC24864,CAI41367,O75562,Q5JUI2 Hs.667154 HFSE-1 protein-coding 1353607 C9orf35 chromosome 9 open reading frame 35 414160 AL163192 protein-coding 1349397 C9orf36 chromosome 9 open reading frame 36 26165 NM_015667,BC040528 1343340 C9orf37 chromosome 9 open reading frame 37 15164053,12477932,10931946 85026 NM_032937,AL365502,CH471090,AF267857,BC011781,BC066646,BC117267,CR594057,CR605436 NP_116326,CAI14590,EAW88407,EAW88408,AAG44726,AAH66646,AAI17268,Q9H2J1 Hs.522520,Hs.696059 protein-coding 1352754 C9orf38 chromosome 9 open reading frame 38 29044 Q9UI66 AF090921,XM_939946,AL353718,XM_927012 AAF24038,Q9UI66,XP_932105,XP_945039,CAH74115 Hs.676462 PRO0365 protein-coding 1346527 C9orf4 chromosome 9 open reading frame 4 15164053,10603000 23732 NM_014334,AL358815,CH471105,AF155065,AI089389,BF514667 NP_055149,CAI15131,EAW59040,AAF28159,Q9P0K9,AAI56448 Hs.347537 GDB:10450527 CG-6|CG6 protein-coding 1350600 C9orf40 chromosome 9 open reading frame 40 17081983,15489334,15164053,14702039,12477932,9373149,8125298 55071 NM_017998,AL158825,CH471089,AK000972,AK225349,BC039588,BM126413,CR596886,CR599227 NP_060468,CAI12575,EAW62564,BAA91449,AAH39588,Q8IXQ3 Hs.532296 FLJ10110|FLJ25795 protein-coding 1323541 C9orf41 chromosome 9 open reading frame 41 737633 15489334,15164053,14702039,12477932 737633 138199 NM_152420,AL158825,CH471089,AK098661,BC034033,BX538061,BX647386 NP_689633,CAI12576,CAI12577,CAI12578,EAW62565,EAW62566,EAW62567,BAC05369,AAH34033,CAD97992,Q8N4J0 Hs.567688 FLJ25795 protein-coding 1345519 C9orf43 chromosome 9 open reading frame 43 737633 15489334,15164053,12477932 737633 257169 Q8TAL5 NM_152786,AL137066,CH471090,BC026884,BC033037 AAH33037,Q8TAL5,NP_689999,CAH70101,EAW87383,EAW87384,EAW87385,EAW87386,AAH26884 Hs.632691 MGC17358 protein-coding 1348848 C9orf44 chromosome 9 open reading frame 44 14702039 158314 AK023662 Hs.149940 protein-coding 1342495 C9orf45 chromosome 9 open reading frame 45 737633 737633 81571 NM_030814,BC015678 1315681 C9orf46 chromosome 9 open reading frame 46 737633 15489334,15164053,14702039,12477932,10931946 737633 55848 NM_018465,AL135786,CH471071,AF220050,AF225420,AK027594,BC008212,BC036853 NP_060935,CAH70364,EAW58764,EAW58765,EAW58766,AAF67643,AAG09722,BAB55219,AAH08212,Q9HBL7 Hs.584242 AD025|FLJ14688|FLJ39176|MDS030 protein-coding 1606405 C9orf47 chromosome 9 open reading frame 47 15164053,14702039 286223 AL772202,AK094842,AK127854,AK130650,AL831887,AY333281,NM_001001938 NP_001001938,CAI16741,BAC04433,BAC87162,AAP93864,Q5SQD5,Q6ZRZ4 Hs.585118 C9orf108|FLJ37523|bA791O21.3 protein-coding 1317081 C9orf48 chromosome 9 open reading frame 48 737633 12477932 737633 347240 Q5T7B8 CH471071,AK125180,AK125872,BC048311,BC110502,BC110503,NM_194313,AL353662 CAI15919,EAW58466,BAC86074,BAC86329,AAH48311,AAI10503,AAI10504,Q5T7B8,NP_919289 Hs.661678 FLJ43884|MGC125677|MGC125678 protein-coding 1319034 C9orf5 chromosome 9 open reading frame 5 10564813,16341674,15489334,15342556,15164053,14702039,12477932 23731 NM_032012,AL354797,AL358815,AL669894,CH471105,AA465408,AF086175,AF153415,AK074248,AK090543,AK095537,AK172815,NM_001099734,AL556162,AL833960,BC014248,BE675782,BM817899,BP351493,BP360669,CR607010,CR616564,CR621019,CX865814,DC341553 NP_001093204,NP_114401,CAI39466,CAI39474,CAI15128,CAI13317,EAW59038,EAW59039,AAG43365,BAD18785,CAD38810,AAH14248,Q9H330 Hs.308074,Hs.621479 GDB:11510696 CG-2|CG2|FLJ23668|FLJ33224 protein-coding 1606874 C9orf50 chromosome 9 open reading frame 50 16344560,14702039,12477932 375759 NM_199350,AL391056,AL590369,CH471090,AK093122,AW468767,AW958564,AW958565,BC112353,DB024443 NP_955382,CAI14505,EAW87891,EAW87892,BAC04063,AAI12354,Q5SZB4 Hs.124223 FLJ35803 protein-coding 2290029 C9orf51 chromosome 9 open reading frame 51 647044 XM_930041,XM_001713954,XM_940136,AL390726 XP_935134,XP_001714006,XP_945229,Q5VWG5 bA392E22.4 protein-coding 1314048 C9orf52 chromosome 9 open reading frame 52 14702039,12477932 158219 NM_152574,AL591393,CH471071,AK091187,AK093459,BC038592,BC042417,BC070139,BC142985 NP_689787,CAH71479,CAH71481,EAW58683,EAW58684,EAW58685,BAC03603,AAH38592,AAH42417,AAI42986,Q5VTQ0,Q8IXZ6 Hs.563630 FLJ33868 protein-coding 1347500 C9orf53 chromosome 9 open reading frame 53 17081983,15164053 51198 XM_001725384,XM_001723106,AL449423,AF211119 XP_001725436,XP_001723158,CAH70598,AAF22974,Q5VVJ4,Q9UH64 Hs.653011 bA149I2.3 protein-coding 1350435 C9orf56 chromosome 9 open reading frame 56 414154 1342941 C9orf57 chromosome 9 open reading frame 57 737633 15489334,15164053,12477932 737633 138240 XM_059954,XM_937019,XM_001714846,AL138751,AL583829,BC036255,BC044620,BC053956,BC130404 XP_059954,XP_942112,XP_001714898,CAH72770,AAI30405,Q5W0N0 Hs.371235 RP11-346E17.3 protein-coding 1312901 C9orf58 chromosome 9 open reading frame 58 737633 11256614,16381901,15489336,15489334,15164053,14702039,12975309,12477932,11230166,11076863,8889548 737633 83543 AL157938,NM_031426,CH471090,AK022845,AK027181,AK057789,AK091912,AK128526,AL136566,AL833896,AY359067,BC009826,BM975905,CR601218,BC021253 CAI41102,CAI41103,CAI41104,CAI41105,CAI41107,CAO72071,NP_113614,EAW87958,EAW87959,BAB14269,BAC03770,BAC87480,CAB66501,CAD38752,AAQ89426,AAH21253,Q0JRX9,Q5JUP0,Q5JUP1,Q5JUP3,Q6PJZ1,Q9BQI0,CAL37731,CAL38179,CAL38735 Hs.4944 FLJ12783|IBA2|MGC29466 protein-coding 1352417 C9orf6 chromosome 9 open reading frame 6 12477932,15607035 54942 CH471105,AF153417,AK000464,BC015795,BC051827,CR601308,CR609752,NM_017832,AL354797 CAI39469,EAW59032,EAW59033,EAW59034,AAG43367,BAA91183,AAH15795,Q9NX38,NP_060302,CAI39467 Hs.29276 GDB:11510698 CG-8|FLJ20457 protein-coding 1316770 C9orf61 chromosome 9 open reading frame 61 737633 16344560,16189514,15164053,14702039,12477932,7951235 737633 9413 NM_004816,NM_001127608,AL355140,CH471089,AK056152,AK126127,BC021685,BC113683,BC113685,BX641153,DA824091,L27479 NP_004807,NP_001121080,EAW62482,EAW62483,EAW62484,EAW62485,BAB71105,BAC86453,AAH21685,AAI13684,AAI13686,CAE46067,AAA61301,Q14CN5,Q15884,Q5T6D0,Q6MZG7,Q6ZTX4,Q8WU02 Hs.118003 MGC142243|MGC142245|RP11-548B3.1|X123 protein-coding 1343208 C9orf62 chromosome 9 open reading frame 62 737633 12477932 737633 157927 Q5T7E2,Q8N4C0 XM_926593,XM_938976,AL353615,BC034752 XP_931686,XP_944069,CAI15674,AAH34752,Q5T7E2,Q8N4C0 Hs.559511 MGC35463|RP11-555H7.1 protein-coding 1322751 C9orf64 chromosome 9 open reading frame 64 737633 15489334,15164053,14702039,12477932 737633 84267 NM_032307,AL354733,CH471089,AK090882,BC004407,BC137461,BC137462,BX116423,DB464056 NP_115683,CAI16015,CAI16016,CAI16017,EAW62672,EAW62673,EAW62674,BAC03538,AAI37462,AAI37463,Q5T6V5,Q5T6V6,Q5T6V7 Hs.208914 MGC10999|RP11-575L7.5 protein-coding 1347775 C9orf66 chromosome 9 open reading frame 66 15164053,14702039,12477932 157983 NM_152569,AL158832,AK055720,BC111423 NP_689782,CAI16111,BAB70995,AAI11424,Q0VG94,Q5T8R8 Hs.190877 FLJ31158|RP11-59O6.1 protein-coding 1320709 C9orf68 chromosome 9 open reading frame 68 16344560,15489334,15164053,14702039,12477932 55064 NM_001039395,AL136231,AL162587,CH471071,AI680014,AK000920,BC034293,BC036349,BX649030,DA926064 NP_001034484,CAC12704,CAI41263,CAI41265,CAI41269,EAW58783,EAW58784,BAA91425,AAH34293,AAH36349,Q5JVJ3,Q5JVJ7,Q8N4H0,Q9NWF6 Hs.179615 FLJ10058|RP11-280I16.2|bA6J24.2 protein-coding 1349018 C9orf69 chromosome 9 open reading frame 69 16344560,14702039,12477932 90120 NM_152833,AL138781,AK023162,AK091349,BC009229,BC013282,BC014304,BC021231,BC064970,BC084549,BC092490,BC111053,CR602592,DA685158 NP_690046 Hs.287411,Hs.648193 bA83N9.1 protein-coding 1322993 C9orf7 chromosome 9 open reading frame 7 16303743,15489334,15164053,14702039,12975309,12477932 11094 NM_017586,AL593848,CH471090,CQ782808,CS051397,AJ011373,AK074852,AK075416,AK075548,AL137319,AY358452,BC030558 NP_060056,CAI17249,CAI17250,CAI17251,EAW88089,EAW88090,CAF86035,CAI72193,CAB66156,BAC11245,BAC11606,BAC11691,AAQ88817,AAH30558,Q9UGQ2 Hs.62003 GDB:9956470 D9S2135 protein-coding 1351403 C9orf70 chromosome 9 open reading frame 70 737633 15489334,12477932 737633 84850 XM_001724353,XM_001723928,XM_001721481,AL137071,CH471071,BC007366 XP_001724405,XP_001723980,XP_001721533,EAW58791,AAH07366,Q96IN3 Hs.676113 MGC16153 protein-coding 1353835 C9orf71 chromosome 9 open reading frame 71 737633 15489334,15164053,12477932 737633 169693 AL353616,CH471089,BC029780,NM_153237 NP_694969,EAW62461,AAH29780,Q8N6L7,ABM81723,ABM84878 Hs.663056 MGC34760|RP11-274B18.1 protein-coding 1602828 C9orf72 chromosome 9 open reading frame 72 15489334,15164053,14702039,12477932 203228 NM_018325,NM_145005,AL451123,CH471071,AK001971,AK057806,AK291425,AL832229,AL832467,BC020851,BC039112,BC068445,BG722125 NP_060795,NP_659442,CAI13043,CAI13044,EAW58558,EAW58559,EAW58560,EAW58561,BAA92009,BAB71583,BAF84114,AAH68445,Q96LT7,Q9NUW0 Hs.493639 MGC23980|RP11-27J8.2 protein-coding 1345654 C9orf73 chromosome 9 open reading frame 73 14702039 286371 AK095132 Hs.535950 protein-coding 1352518 C9orf75 chromosome 9 open reading frame 75 737633 15231748,12477932 737633 286262 NM_173691,AL929554,CH471090,CQ782662,AK074735,BC023530,BC048807,BC071831,BC098411,BC111500,BC128601 NP_775962,CAH72883,CAH72884,EAW88364,CAF85906,BAC11169,AAH23530,AAH48807,AAH71831,AAH98411,AAI11501,AAI28602,Q4KMQ1,Q86WR5,Q8IZ53 Hs.323445 FLJ90254|MGC131933|RP11-350O14.7 protein-coding 1313051 C9orf78 chromosome 9 open reading frame 78 17081983,15592455,15489334,15302935,15164053,14702039,12477932,12097419,11042152,8889548 51759 NM_016520,AL158207,CH471090,AF151054,AF218421,AK057004,AK097577,AL137549,AY632862,BC007664,BC017570,BC037173,BU674575,CB128496,CR604621,CR606901,CR608293 NP_057604,CAC88169,EAW87909,EAW87910,AAF36140,AAF37561,CAB70805,AAT46619,AAH07664,AAH17570,Q6GVN4,Q9NZ63,Q9P0Q6 Hs.278429 HSPC220|bA409K20.3 protein-coding 1351279 C9orf79 chromosome 9 open reading frame 79 15164053,14702039 286234 NM_178828,AL772337,CH471089,AK093185,AK093206,AK125845,AL834438,BC137349 NP_849150,CAI23630,EAW62739,EAW62740,BAC04087,BAC04096,BAC86315,CAD39098,AAI37350,Q6ZUB1,Q8NA33 Hs.130672 FLJ35866 protein-coding 1317489 C9orf80 chromosome 9 open reading frame 80 737633 15489334,15164053,12477932,11042152 737633 58493 NM_021218,AL390067,CH471105,AF161409,AF161411,AK000637,BC013097,BC014881,BC065210,CR607302 NP_067041,CAH71934,CAH71935,CAH71936,EAW59113,AAF28969,AAF28971,AAH13097,AAH14881,AAH65210,Q9NRY2,ABM83331,ABM86542 Hs.658575 HSPC043|RP11-276E15.2 protein-coding 1344567 C9orf82 chromosome 9 open reading frame 82 17081983,15489334,15302935,15164053,14702039,12477932,9110174,8619474 79886 NM_024828,AL356133,CH471071,AF131768,AK023719,BC014658,BC071953,CR599142 NP_079104,CAH72640,EAW58576,EAW58577,EAW58578,EAW58579,BAB14655,AAH14658,AAH71953,Q9H8G2 Hs.178357 FLJ13657|RP11-337A23.1 protein-coding 1351188 C9orf84 chromosome 9 open reading frame 84 16344560,15164053,14702039,12477932 158401 DB066382,NM_173521,NM_001080551,AL135787,AL354877,AL356491,CH471105,AK057341,AK126055,AL704322,AL833535,BC041858,BC112357 AAI12358,Q2M1H8,Q4G0R0,Q5VXU9,Q6ZU10,NP_775792,NP_001074020,CAI12399,CAM13383,EAW59088,EAW59089,EAW59090,BAB71436,BAC86417,AAH41858 Hs.428209 FLJ32779|FLJ44067|MGC43661 protein-coding 1605873 C9orf85 chromosome 9 open reading frame 85 15489334,15164053,14702039,12477932 138241 NM_182505,AL138751,CH471089,BC010179,BC028019,BC052375,BQ020559,BQ431408,BX104173,CB113688 NP_872311,CAH72766,CAH72768,CAH72769,EAW62523,EAW62524,EAW62525,EAW62526,AAH10179,AAH28019,AAH52375,Q05C94,Q96MD7 Hs.534190 MGC61599|RP11-346E17.2 protein-coding 1316912 C9orf86 chromosome 9 open reading frame 86 737633 16189514,17962191,17081983,16582619,15489334,15164053,14702039,12970870,12477932,12646258 737633 55684 NM_024718,NM_017995,AL355987,CH471090,AF318367,AK000963,AK001184,AK023107,AK027586,AK094382,AK098086,AK128154,AL713707,BC002945,BC018960,BC021095,BC024964,BC035786,BQ437663,CR602099,CX784448,DQ099383,DQ141240,EF156752,EF156753,CR620864 NP_078994,NP_060465,CAI12686,CAI12689,CAI12690,CAI12691,EAW88282,EAW88283,EAW88284,EAW88285,EAW88286,AAL55874,BAA91446,BAA91541,BAB14408,BAB55213,CAD28504,AAH02945,AAH21095,AAH35786,AAZ13759,AAZ73768,ABO84837,ABO84838,Q3YEC7,Q5T5R6,Q5T5S7,Q9NW45,Q9NWD6 Hs.567803 FLJ10101|FLJ13045|Parf|RBEL1|RP11-216L13.9|bA216L13.9|pp8875 protein-coding 1314456 C9orf89 chromosome 9 open reading frame 89 737633 15637807,15489334,15164053,14702039,12477932 737633 84270 NM_032310,AL451065,CH471089,AK057716,AK091611,AK097977,AK128259,AW207349,BC004500,BC038856,BC042201,BC091476,CR592085,CR620457 NP_115686,CAI95110,EAW62850,EAW62851,EAW62852,EAW62853,EAW62854,EAW62855,BAB71550,AAH04500,AAH38856,AAH91476,Q96LW7 Hs.434213 BinCARD|MGC110898|MGC11115|bA370F5.1 protein-coding 1353846 C9orf9 chromosome 9 open reading frame 9 16303743,15489334,15164053,14702039,12477932 11092 AK075259,BC012940,CR457210,NM_018956,AL445645,CH471090,AJ011375 BAC11503,AAH12940,CAG33491,Q96E40,NP_061829,CAH72110,CAH72111,EAW88018,EAW88019,EAW88020,CAB66158 Hs.62595 GDB:9956465 protein-coding 1312125 C9orf91 chromosome 9 open reading frame 91 737633 16381901,16344560,15489336,14702039,12477932,11230166,11076863,9110174,8619474 737633 203197 NM_153045,AL160275,CH471090,AF038174,AK095364,AK098022,AK289383,AL557166,AL834412,BC010029,BC019913,BC062550,BC107133,BC107134,BI553818,BQ049157,BX649023,DB199443 NP_694590,CAH73482,CAH73483,EAW87426,EAW87427,EAW87428,BAC04537,BAF82072,CAD39074,AAH19913,AAH62550,AAI07134,AAI07135,Q5VZI3,CAL37803 Hs.522357 DKFZp547P234|FLJ38045|MGC129868|MGC129869|RP11-402G3.2 protein-coding 1349109 C9orf92 chromosome 9 open reading frame 92 414302 1348779 C9orf93 chromosome 9 open reading frame 93 737633 15489334,15164053,14702039,12477932 737633 203238 NM_173550,AL359877,AL513423,AL592153,AL662788,AF440401,AK094506,AK096586,AK128581,AL832443,AY422473,BC026063,BC040738,BC064849,BX537933,CR936775 NP_775821,CAI39676,CAI39677,CAI94977,AAM20913,BAC04370,BAC04823,BAC87511,CAH10655,AAR13704,AAH26063,AAH64849,CAD97907,Q5JST2,Q5JST5,Q69YN6,Q6TFL3,Q7Z3F8,Q8NCV3 Hs.17267 DKFZp686P12113|FLJ39267|FLJ46740|MGC50805|bA536D16.1|bA778P13.1 protein-coding 1321274 C9orf94 chromosome 9 open reading frame 94 15489334,15164053,14702039,12477932 206938 AK092602,NM_001040272,AL158150,AL591423,AK123028,AK128724,BC100788,BC100789,BC100790,BX640951 NP_001035362,CAM14351,CAM14352,CAM13086,BAC03925,BAC87592,AAI00789,AAI00790,AAI00791,CAE45975,Q496M7,Q496M8,Q6MZQ3,Q6ZQU1 Hs.643388 FLJ35283|MGC118803|MGC118805 protein-coding 1343469 C9orf95 chromosome 9 open reading frame 95 Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM] 737633 17698003,15489334,15164053,15137942,14702039,12477932 737633 54981 NM_017881,NM_001127603,NR_023352,AL133548,CH471089,AK000566,AK023413,AK097144,AY611480,BC001366,BC026243,BC036804,CB135264,CR611964 NP_060351,NP_001121075,CAH71569,CAH71570,CAH71571,EAW62568,EAW62569,BAA91259,AAT11928,AAH01366,AAH36804,Q5W122,Q5W124,Q5W125,Q9NWW6 Hs.494186 FLJ20559|NRK1|RP11-235O14.2|bA235O14.2 protein-coding 1316505 C9orf96 chromosome 9 open reading frame 96 737633 15489334,15164053,14702039,12477932 737633 169436 NM_153710,AL158826,CH471090,AK131533,AK131545,BC036504 NP_714921,CAI12843,EAW88075,EAW88076,EAW88077,EAW88078,EAW88079,EAW88080,EAW88081,BAD18670,BAD18679,AAH36504,Q8NE28 Hs.632077 MGC43306|RP11-244N20.8 protein-coding 1322057 C9orf97 chromosome 9 open reading frame 97 737633 16344560,15498874,15489334,15164053,15146197,14702039,12477932 737633 158427 AK291199,BC022958,BC035604,BU625565,BX538308,BX648493,CN298691,DA735730,NM_139246,AL162385,CH471105,AF258575,AK056453,AK056752,AK094043,AK122809,AK128615 BAF83888,AAH22958,AAH35604,Q5T7W7,Q5T7X0,Q5T7X1,Q8TBB8,NP_640339,CAI12856,CAI12857,CAI12858,CAI12859,CAI12860,EAW58848,EAW58849,EAW58850,EAW58851,AAG23778,BAB71188,BAB71271,BAC87530 Hs.404289 FLJ36724|RP11-244N9.5 protein-coding 1350831 C9orf98 chromosome 9 open reading frame 98 737633 14702039,12477932 737633 158067 AL160165,AL445645,CH471090,AK057266,AK093333,AK093446,AK292186,BC034776,NM_152572,BC037402,BC050576 NP_689785,CAH70535,CAH72109,EAW88012,EAW88013,EAW88014,EAW88015,EAW88016,EAW88017,BAB71402,BAC04134,BAC04168,BAF84875,AAH34776,AAH50576,Q8N9Z7,Q96MA6 Hs.421340 DDX31|FLJ32704|FLJ36014|RP11-143F18.1 protein-coding 1320302 CA1 carbonic anhydrase I Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA1 is closely linked to CA2 and CA3 genes on chromosome 8, and it encodes a cytosolic protein which is found at the highest level in erythrocytes. Transcript variants of CA1 utilizing alternative polyA_sites have been described in literature. 1580863 2121614,17464559,17314045,16870440,15837325,15836783,15489334,14675565,12477932,12009884,11680594,11392054,9879596,7866410,7574487,6781336,4632246,4625868,4217196,4207120,3124707,3104879,3088232,1916821,1602151,827930,804171,406674 759 AC025800,NM_001738,CH471068,BC027890,M33987,X05014 NP_001729,EAW87129,EAW87130,EAW87131,EAW87132,AAH27890,AAA51910,CAA28663,P00915,ABM81856,ABM85017 Hs.23118 GDB:119047 Car1 protein-coding 1352724 CA10 carbonic anhydrase X This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. 1580863 11311946,17081983,16344560,15499993,15489334,15328829,12975309,12500287,12477932,12044474,11230166,9921901,8673298 56934 NM_001082534,NM_001082533,NM_020178,AC002090,AC004108,AC005883,AC006083,AC016473,AC092713,CH471109,AB001597,AB036836,AF288385,AL161812,AW135066,AY358509,BC020577,BC029865,BC047456,BC068462,CR597480,CR609088,CR749607,DA110822,DA128892,DA518921 NP_001076003,NP_001076002,NP_064563,EAW94558,BAB46928,BAB00615,AAK11974,CAB82105,AAQ88873,AAH20577,AAH29865,AAH47456,AAH68462,CAH18402,Q68D28,Q9NS85 Hs.463466 GDB:9862829 CA-RPX|CARPX|HUCEP-15 protein-coding 1348503 CA11 carbonic anhydrase XI Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. 1580863 9878252,18382127,16335952,15489334,12975309,12477932,12044474,11311946,10350627,9878543 770 NM_001217,AC008888,CH471177,AB018195,AF050106,AF067662,AY358967,BC002662,BT007265,BX440526,CR541772 NP_001208,EAW52376,EAW52377,EAW52378,BAA36840,AAD08802,AAC99689,AAQ89326,AAH02662,AAP35929,CAG46571,O75493 Hs.428446 GDB:9862833 CARP2|CARPX1 protein-coding 1315327 CA12 carbonic anhydrase XII Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding different isoforms have been identified for this gene. 9636197,16416108,15849821,15489334,14702039,14578124,12923247,12854129,12676895,12477932,11680594,11493685,11420383,11238049,11101628,11083462,10666387,10611263,10512682,9770531,8524854,16189514 771 NM_206925,NM_001218,AC087525,CH471082,AF037335,AF051882,AK000158,AK096845,BC000278,BC001012,BC011691,BC023981,BC087838,BM994285,BQ440047,BT006656,BU167720,BU944741,CA309380,CR618639 NP_996808,NP_001209,EAW77646,EAW77647,EAW77648,EAW77649,EAW77650,AAC63952,AAC39789,BAA90981,AAH00278,AAH01012,AAH11691,AAH23981,AAP35302,O43570,Q9NXM9,ABM84114,ABM87510 Hs.210995 GDB:9862834 CAXII|FLJ20151|HsT18816 protein-coding 1322168 CA13 carbonic anhydrase XIII Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM] 1580863 18336313,16344560,15836783,15489334,14702039,14600151,12477932 377677 NM_198584,AC011773,AC025800,CH471068,AK095314,BC052602,DB287770 NP_940986,EAW87128,BAC04528,AAH52602,Q8N1Q1 Hs.127189 CAXIII|FLJ37995|MGC59868 protein-coding 1317436 CA14 carbonic anhydrase XIV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. 1580863 10512682,17881426,16710414,15489334,14702039,14578124,12975309,12611920,12477932,12028451,11172051 23632 NM_012113,AL138795,CH471121,AB025904,AK074765,AK290609,AY358689,BC034412,BT020054 NP_036245,CAI22810,EAW53570,EAW53571,EAW53572,EAW53573,EAW53574,BAA85002,BAC11191,BAF83298,AAQ89052,AAH34412,AAV38857,Q9ULX7,ABM92237,ABM84715 Hs.528988 GDB:10795367 protein-coding 737257 CA2 carbonic anhydrase II CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. 1600698,1600710,1580863,1300048 1928091,3151020,114507,18323598,18247480,18189416,18083150,17881426,17631639,17363915,17319695,17319692,17202139,16996812,16825953,16687407,16475831,16344560,16265785,16169070,16106378,15952740,15837325,15837316,15836783,15667203,15489334,15453828,15300855,15218065,15062553,15049705,14760703,14736710,14718574,14675565,14578124,14567693,12933803,12826902,12566520,12501217,12477932,12411514,12171926,12138085,12056894,11956656,11606574,11457932,11264157,11076507,11063570,10821857,10820026,10811634,10423017,10333352,10231836,9890926,9774471,9541386,9453381,9336790,9205766,9150731,9143915,8834238,8460098,8128957,8127074,7930522,7627193,7574487,6817747,6407977,4624444,4621826,4207120,3925334,3221988,3151019,3121496,3108857,3107918,3081869,3000449,2850697,2123360,2121671,2117271,1977133,1925679,1602151,1542674,1301935,16189514,823150 1600698,1600710 760 NG_007287,AC084734,CH471068,M77178,M77181,X03251,BC011949,BC035424,CR536526,CR541875,CR590312,CR591919,CR602161,CR603817,CR608877,CR613409,CR616325,DA431650,J03037,M36532,S69526,Y00339,NM_000067 NP_000058,EAW87136,AAA51909,CAA27012,AAH11949,CAG38763,CAG46673,AAA51908,AAA51911,AAB30170,CAA68426,P00918,Q6LD99,ABM82246,ABM85430 Hs.155097 GDB:119739 CA-II|CAII|Car2 carbonic anhydrase 2 protein-coding 1353547 CA3 carbonic anhydrase III, muscle specific Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encode carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. 1580863 3086182,15489334,14702039,12745799,12484342,12477932,12171926,11976500,11024467,10845711,9890711,9651514,8633035,8506074,7574487,6784712,6770531,6410007,6221502,6119426,3930440,3122635,3110380,3106467,3099285,3000276,2824285,1971453,1905166,1764784,1414196,1361281,120192 761 NM_005181,AC084734,AJ006473,CH471068,M29452,M29453,M29454,M29455,M29456,M29457,M29458,AK096880,BC004897 NP_005172,CAA07056,EAW87133,EAW87134,AAA52293,AAH04897,P07451 Hs.82129 GDB:119740 CAIII|Car3 protein-coding 1353429 CA4 carbonic anhydrase IV Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. 1600730,1580863 1311094,6811592,17881426,17652713,17409381,16344560,15563508,15489334,15090652,14567693,12477932,11994299,10231836,10090333,9632745,9385361,8942978,8903383,8809084,8675662,8325641,8064130,7672351,7625839,7581389,2116168,2111324,1901414 1600730 762 NM_000717,AC025048,CH471109,L10955,AI990988,AK289715,BC057792,BC069649,BC074768,CR541766,DA113846,M83670 NP_000708,EAW94361,EAW94362,EAW94363,AAA35625,AAA35626,BAF82404,AAH57792,AAH69649,AAH74768,CAG46565,AAA35630,P22748,Q6FHI7 Hs.89485 GDB:131660 CAIV|Car4|RP17 protein-coding 1347153 CA5A carbonic anhydrase VA, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. 1580863 8356065,7490083,17174092,10082753,9733757 763 NM_001739,AC127455,AC133539,CH471114,S80181,U25134,BC137405,BC137411,L19297 NP_001730,EAW95371,EAW95372,AAB47048,AAC99806,AAI37406,AAI37412,AAA02890,P35218 Hs.177446 GDB:218380 CA5|CAV|CAVA protein-coding 1343079 CA5B carbonic anhydrase VB, mitochondrial Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. 1580863 10409679,17174092,15489334,15342556,14702039,12477932,11303978,10677517,7574487 11238 NM_007220,AC096510,AC112497,CH471074,AA811880,AB021660,AK057568,AK291050,BC028142,BP371510 NP_009151,EAW98895,EAW98896,EAW98897,EAW98898,BAA76671,BAF83739,AAH28142,Q9Y2D0 Hs.708159 GDB:9957508 CA-VB|MGC39962 protein-coding 1346033 CA5BL carbonic anhydrase VB-like 737633,1580863 12477932 737633 340591 XM_001716189,XM_001715245,XM_001719213,XM_001719208,AC112497,BC021816 XP_001716241,XP_001715297,XP_001719265,XP_001719260,AAH21816,Q8WTZ4,Q9P170 Hs.532326 PRO2325 protein-coding 1344775 CA5P carbonic anhydrase V pseudogene 7490083 764 XM_113281 GDB:636805 1323700 CA6 carbonic anhydrase VI The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. 1580863 2433278,17499996,16710414,15342556,12477932,11875253,11553764,11304804,11303978,10705347,10523402,10415846,10207193,9784398,9691177,9439449,8429198,2505973,2113069,1899030 765 NM_001215,AF128418,AL139415,CH471130,AB102863,AB103091,BC034350,BP333541,BP334640,BX282262,M57892 NP_001206,AAF22565,CAC42429,EAW71606,BAD89397,BAD89434,AAH34350,AAA51892,P23280,Q5FBW3,Q5FC00,Q8N4G4 Hs.100322 GDB:125350 GUSTIN|MGC21256 protein-coding 1315686 CA7 carbonic anhydrase VII Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. 1580863 1783392,15686895,15528236,15489334,12477932,12417987,11875253,10493829,7574487 766 NM_005182,NM_001014435,AC004638,AC044802,CH471092,M76420,M76421,M76422,M76423,M76424,M76425,AY075019,AY075020,BC033865,BI752037 NP_005173,NP_001014435,AAC23785,EAW83044,EAW83045,EAW83046,EAW83047,AAA51923,AAL78167,AAL78168,AAH33865,P43166,Q86YU0,ABM86190,ABW03694 Hs.37014 GDB:119741 CAVII protein-coding 1312313 CA8 carbonic anhydrase VIII The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. 1580863 8977131,17219437,15489334,14702039,12611586,12536316,12477932,12044474,8482548,7821612,7587398 767 NM_004056,AC021393,AC132834,CH471068,AK090655,AK289470,AY075022,BC015531,BC069744,BC069794,BC108929,BM462961,BU182748,CR605437,L04656 NP_004047,EAW86824,EAW86825,EAW86826,BAF82159,AAL78170,AAH69744,AAH69794,AAI08930,AAA35653,P35219 Hs.654388 GDB:141839 CA-VIII|CALS|CARP|MGC120502|MGC99509 protein-coding 1315034 CA9 carbonic anhydrase IX Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and the only tumor-associated carbonic anhydrase isoenzyme known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. 1580863,2293190,2293194,2293199,2293200,2293204,2293196,2293198,2293201,2293191,2293193,2293195,2293197 8661007,18336316,18336315,18290322,18173856,18060036,18026188,17906661,17855694,17706406,17674038,17652430,17536770,17452775,17390110,17367605,17245699,17200340,16964400,16954440,16944313,16533775,16428489,16416108,16288478,16243791,16168127,15935515,15856466,15849821,15847702,15837325,15833446,15809767,15671533,15585626,15556624,15500003,15489334,15340161,15240538,15199132,15184875,15069539,14654550,14578124,14567991,12966427,12865916,12854129,12676895,12615703,12576453,12560438,12477932,12154057,12137853,11705854,11680594,11676494,11303978,11083462,10709109,9787087,9770531,9524195,9024293,8486430,8084592,1312272 2293190,2293194,2293199,2293200,2293204,2293196,2293198,2293201,2293191,2293193,2293195,2293197 768 NM_001216,AL133410,AL357874,CH471071,Z54349,AI023541,AJ010588,AL554705,BC014950,CR590646,CR597234,CR616345,CR620502,EF122496,X66839 NP_001207,CAI10985,CAI13455,EAW58359,CAB82444,AAH14950,ABL67717,CAA47315,Q16790,Q5T4R1,ABM83134,ABM86330 Hs.709224 GDB:4384339 CAIX|MN protein-coding 1314979 CAB39 calcium binding protein 39 1600678,1580863 14676191,17353931,15561763,15489334,15183188,14976552,14730349,14517248,12477932,10810093,8910387 1600678 51719 NM_016289,AC012507,AC084031,CH471063,AB073893,AF113536,AF134480,AF151824,AK000804,AK026335,AK292382,BC020570,CR593751,CR597291 NP_057373,AAY14829,EAW70932,EAW70933,AAF14873,AAP97257,AAD34061,BAF85071,AAH20570,Q53RN7,Q7Z4X0,Q9Y376 Hs.632536 CGI-66|FLJ22682|MO25 protein-coding 1319011 CAB39L calcium binding protein 39-like 1580863 17353931,16344560,15489334,15057823,14702039,12601173,12477932,8889548 81617 NM_001079670,NM_030925,AL136218,AL138875,CH471075,AA278473,AK022639,AY211923,AY288977,BC010993,BX647518,CA450475,DA146462,DB279812 NP_001073138,NP_112187,CAI10815,CAI10816,CAI10893,EAX08820,EAX08821,EAX08822,EAX08823,BAB14147,AAO65176,AAQ93064,AAH10993,Q5TC69,Q86WE6,Q9H9S4 Hs.87159 FLJ12577|MO2L|RP11-103J18.3|bA103J18.3 protein-coding 1343862 CABC1 chaperone, ABC1 activity of bc1 complex homolog (S. pombe) This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. 1580863 18319074,18319072,16710414,16344560,16189514,15498874,15489334,14702039,12477932,11888884 56997 NM_020247,AL353689,CH471098,AB073905,AF218003,AI888739,AJ278126,AK074693,AK090494,AK092784,AK126200,AL137511,BC005171,BC129930,BX648860,DA925261 NP_064632,CAI19103,CAI19104,CAI19105,CAI19106,EAW69801,EAW69802,EAW69803,EAW69804,EAW69805,BAB91363,AAG17245,CAC00482,BAC11143,AAH05171,AAI29931,CAH56132,Q5T7A2,Q5T7A4,Q8NI60 Hs.118241 GDB:11500640 ADCK3|COQ8|MGC4849 chaperone, abc1 activity of bc1 complex like (s. pombe) protein-coding 732324 CABIN1 calcineurin binding protein 1 Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. At least four alternatively spliced transcripts have been found for this gene, but the full-length nature of most of them has not been determined. 734676 9655484,17531200,15902271,15683985,15671033,15063762,14718166,14623296,12700764,12477932,11714752,10933397,10931822,10825153,10591208,10531067,9205841,9150134 734676 23523 NM_012295,AP000351,AP000352,AP000353,CH471095,Z92546,AB002328,AF072441,AL390166,BC013099,BC021929,BC028969,BC041659,BC054497 NP_036427,EAW59637,EAW59638,EAW59639,EAW59640,CAB62954,BAA20788,AAD40846,CAB99097,AAH21929,AAH28969,AAH41659,AAH54497,Q05C66,Q6PHY0,Q8IVX9,Q8WTX5,Q9NPU0,Q9Y6J0 Hs.517478 GDB:9785603 CAIN|KIAA0330 cain protein-coding 1313589 CABLES1 Cdk5 and Abl enzyme substrate 1 CABLES1 is a cyclin-dependent kinase (CDK)-binding protein that plays a role in proliferation and/or differentiation (Zukerberg et al., 2004 [PubMed 14729625]).[supplied by OMIM] 737633,1580863 11706030,17101133,17982127,16964243,16177791,16177568,15489334,14729625,14702039,14637168,13679449,12612882,12477932,11955625,11733001,11585773,11527406,10896159,10873625 737633 91768 NM_001100619,NM_138375,AC011731,AC105247,CH471088,AF348525,AK093243,BC004124,BC037218,EF028204 NP_001094089,NP_612384,EAX01147,EAX01148,AAL83906,BAC04107,AAH04124,AAH37218,ABL77400,Q8TDN4 Hs.11108 CABLES|FLJ35924|HsT2563|IK3-1 protein-coding 1345026 CABLES2 Cdk5 and Abl enzyme substrate 2 737633,1580863 15489334,14637168,12477932,11955625,11780052 737633 81928 NM_031215,AL121832,CH471077,AI066606,BC003122,BC011196,BU166894,CA420818,CB960872,CR615670 NP_112492,CAI23283,EAW75364,EAW75365,EAW75366,AAH03122,Q9BTV7 Hs.301040 C20orf150|dJ908M14.2|ik3-2 protein-coding 731282 CABP1 calcium binding protein 1 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene was only detected in retina and brain. Study of the mouse homolog demonstrated that groups of cells expressing this protein are located in the center or inner border of the inner unclear layer of retina. Three alternatively spliced variants encoding different isoforms have been described. 1580863 9920909,15980432,15140941,17960496,16470652,16147998,14702039,14570872,12477932,11865310,10625670,8889548,12032348,14685260 9478 NM_001033677,NM_031205,NM_004276,AC069234,CH471054,AF169148,AF169149,AK127203,AL533429,BC015006,BC030201,BM716422,BQ188859,CR602468,CR612944,CR619895 NP_001028849,NP_112482,NP_004267,EAW98209,EAW98210,EAW98211,AAF25782,AAF25783,AAH30201,Q8N6H5,Q9NZU7,ABM86439,ABW03794 Hs.458482 GDB:9956814 CALBRAIN|HCALB_BR protein-coding 1348224 CABP2 calcium binding protein 2 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The specific function of this gene is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 10625670,12477932,11415439,11108966 51475 NM_031204,NM_016366,AF170811,AP001184,CH471076,AF169154,BC018476 NP_112481,NP_057450,AAF26283,EAW74645,EAW74646,EAW74647,AAF25788,Q9NPB3,AAI52747 Hs.278984 GDB:9993132 protein-coding 1345299 CABP3 calcium binding protein 3 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of the CABP5 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP5. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. 1580863 10625670,11785943 51476 AF170816,AF170817,AF170818,AF224511 AAF27810,AAF27811,Q9NZU6 GDB:9993135 protein-coding 1314493 CABP4 calcium binding protein 4 1580863 16960802,15452577,10625670,16554811,15489334,12477932,1316906 57010 AY039217,BC033167,NM_145200,AP003419,CH471076 AAK83462,AAH33167,P57796,NP_660201,EAW74627,EAW74628,EAW74629,EAW74630 Hs.143036 GDB:9993137 CSNB2B protein-coding 1317691 CABP5 calcium binding protein 5 The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. Study of the transcripts and genomic structure revealed that the 5' end of this gene is complementary and reverse to that of CABP3 gene, and the sequence beyond the overlapping region is nearly identical to that of CABP3. Thus, these two genes encode the protein products with distinct N-terminal halves but identical C-terminal halves. 1580863 10625670,15489334,12477932,11785943,8889548 56344 CH471177,AF169159,BC126133,BC126135,BQ185108,NM_019855,AC010330,AC010458,AF170812,AF170813,AF170814,AF170815 EAW52310,AAF25793,AAI26134,AAI26136,Q9NP86,NP_062829,AAF25798 Hs.117694 GDB:9993139 protein-coding 1348796 CABP7 calcium binding protein 7 737633 15489334,12477932,11785943 737633 164633 NM_182527,AC004882,CH471095,BC051805 NP_872333,EAW59834,EAW59835,AAH51805,Q86V35 Hs.708167 MGC57793 protein-coding 1349000 CABYR calcium binding tyrosine-(Y)-phosphorylation regulated To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Transcript variants of this gene encode multiple protein isoforms. An additional transcript and isoform has not been fully characterized. 1580863 17317841,16139264,15752768,15489334,12509440,12477932,11820818,11730911,9373149,8125298,7849610 26256 NM_012189,NM_153769,AF329634,AK225858,AY007205,BC011996,NM_153770,NM_153768,NM_138643,NM_138644,AC090772,CH471088,AF088868,AF295037,AF295038,AF295039 NP_036321,AAG17891,AAL56051,AAG01891,AAH11996,O75952,NP_722454,NP_722452,NP_619584,NP_619585,EAX01174,EAX01175,EAX01176,EAX01177,EAX01178,NP_722453,EAX01179,AAC35373,AAG17889,AAG17890 Hs.511983 GDB:11505507 CBP86|FSP-2|MGC9117 calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2)|calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) protein-coding 1345908 CABYRP calcium binding tyrosine-(Y)-phosphorylation regulated pseudogene 266954 NG_002394,AC115282 calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2) pseudogene|calcium-binding tyrosine-(y)-phosphorylation regulated (fibrousheathin 2) pseudogene pseudo 1344745 CACD central areolar choroidal dystrophy 8733141,9733038 772 GDB:5885801 1605969 CACHD1 cache domain containing 1 14702039,12477932,12421765,10997877 57685 NM_020925,AC099678,AL355515,AL590405,CH471059,AB046793,AK022571,AK024256,AK131297,AL833000,BC039301,BX537603,CX163220 NP_065976,EAX06551,BAB13399,BAB14105,BAB14860,CAH56312,AAH39301,CAD97793,Q5VU97 Hs.708156 KIAA1573|RP4-655E10.1 protein-coding 735950 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. 1358570,734669,1358446 8692999,11865310,12451115,16595610,8825650,18413478,18279427,18162541,18056581,17672918,17654512,17588611,17573560,17438119,17418573,17292920,17289272,17119788,17020933,16508934,16389595,16382099,16373336,16325861,16306128,16186543,16043807,15985579,15827025,15826995,15795222,15743764,15728831,15710862,15545010,15504897,15504896,15474358,15452324,15448138,15362569,15293273,15254089,15240985,15223312,15210532,15057824,15026782,15026160,15003170,14756671,14681882,14592859,14570872,14534930,14530926,12756131,12736095,12707077,12676347,12545428,12542511,12527722,12461694,12235360,12056940,12049805,11971066,11960817,11843866,11804332,11803518,11742003,11723274,11342703,11320173,11179022,11176968,11061267,10987655,10753886,10737800,10607897,10212211,10049321,9600739,9442082,9311738,9303303,9302278,9259275,9238069,9009193,8988170,8898206,8525433,8220421,7823133,1370480,15953418 1358570,734669,1358446 773 NM_000068,NM_001127221,NM_001127222,AC005305,AC005513,AC008540,AC011446,AC022436,AC026805,AC093062,AC098781,AC124224,AF144098,AF152345,CH471106,NM_023035,AB035726,AB035727,AF004883,AF004884,AF100774,BQ340521,S76537,U06702,U79663,U79664,U79665,U79666,U79667,U79668,X99897 NP_075461,NP_000059,NP_001120693,NP_001120694,AAC26839,AAF03935,AAD38386,EAW84361,EAW84362,EAW84363,EAW84364,EAW84365,EAW84366,BAA94765,BAA94766,AAB61612,AAB61613,AAC77460,AAB33068,AAB49674,AAB49675,AAB49676,AAB64179,AAB49677,AAB49678,CAA68172,O00555,O95387,Q9NS88,Q9NS89,Q9UDC4,Q9UHM9,Q9UN69 Hs.501632 GDB:126432 APCA|CACNL1A4|CAV2.1|EA2|FHM|HPCA|MHP|MHP1|SCA6 calcium channel, voltage-dependent, alpha 1a subunit protein-coding 1347795 CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit Voltage-dependent Ca(2+) channels are multisubunit complexes found in the membrane of many excitable cells that regulate calcium entry (see MIM 601011). N-type calcium channels, which control neurotransmitter release from neurons, are dihydropyridine-insensitive and omega-conotoxin-sensitive. The alpha-1 subunit forms the pore through which calcium enters the cell, and is encoded by a family of at least 5 genes.[supplied by OMIM] 1580151,1580863,1626313,1626312 15728831,1321501,9030575,17081983,16857708,16627564,16382099,15953418,15607937,15166237,14684825,14602720,12665800,12435810,12414690,12177192,12161429,12018859,11438518,11395521,11353727,11130074,10455105,8825650,8750830,8684604 1580151,1626313,1626312 774 NM_000718,AF237470,AF238295,AF238296,AF245659,AF245660,AF302780,AF302782,AL591424,AL772363,CH471090,CS184988,U76666,AB209467,AY429522,AY429523,M94172,M94173 NP_000709,AAG13642,AAG13644,AAG13650,AAG13645,AAG13648,AAG13646,AAG13647,AAG13643,AAG14396,AAG14397,AAG14398,CAI40685,CAI40686,CAI40687,CAI40688,CAI40691,EAW88415,EAW88416,EAW88417,EAW88418,CAJ41866,AAC51138,BAD92704,AAA51897,AAA51898,Q00975,Q59FJ3,Q5SQC4,Q5SQC5,Q5SQC6,Q5SQC7,Q9HAT3,Q9HAT4,Q9HAT5,Q9HAT6,Q9HBG1,Q9HBG2,Q9HBG3,Q9HBH2,Q9HBH4,Q9HBI3,Q9HBI4 Hs.495522 GDB:580689 BIII|CACNL1A5|CACNN|Cav2.2 calcium channel, voltage-dependent, l type, alpha 1b subunit protein-coding 10268 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Many alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580173,1580863 15140941,8392192,12130699,11206130,18317468,18174367,17950697,17942635,17916557,17593353,17224476,17173968,17071743,16820363,16648185,16610939,16382099,16319140,16299511,16285952,16157588,16020652,15980432,15980164,15916803,15863612,15845581,15749491,15671035,15583004,15454078,15339916,15299022,15141227,14981074,14722109,14702039,12962146,12832067,12593842,12477932,12176756,12166659,12163037,11741969,11576544,11461190,11438518,10022083,9668070,9607315,14140941,9247274,7737988,2173707,1653763,1650913,1335957,1330882,1316612,15170217,15728831,15953418,9110174,9087614,9013606,8619474,8612821,8099908,7959794 775 NM_000719,AC005293,AC005342,AC005344,AC005414,AC005866,AC006051,AC007618,CH471116,L04568,M61130,M91370,M92269,Z26257,Z26308,AB209016,AF070589,AF465484,AJ224873,AJ536834,AJ537510,AK092125,AY129012,AY562395,AY562396,AY830711,AY830712,AY830713,BC093695,Z34820,Z34821,CR605077,Z34822,Z74996,L29529,L29534,L29536,M57971,M57972,Z26294,Z26295,Z34809,Z34810,Z34811,Z34812,Z34813,Z34814,Z34815,Z34816,Z34817,Z34818,Z34819 NP_000710,EAW88895,EAW88896,EAW88897,EAW88898,EAW88899,EAW88900,EAW88901,EAW88902,EAW88903,EAW88904,EAW88905,EAW88906,EAW88907,EAW88908,EAW88909,EAW88910,AAA02500,AAA58409,AAA74590,AAA17030,BAD92253,AAC28649,AAM70049,CAA12174,CAD61168,CAD61169,AAM98755,AAT67986,AAT67987,AAX37354,AAX37355,AAX37356,AAH93695,CAA84351,CAA84350,CAA84352,CAA84353,CAA99284,O95234,Q13936,Q4G0H8,Q59GU3,Q5V9X8,Q5V9X9,Q6YL47,Q86XX0,Q86XX1,AAA51899,AAA51900,AAA51901,AAA62832,AAB59461,CAA81218,CAA81219,CAA84340,CAA84341,CAA84342,CAA84343,CAA84344,CAA84345,CAA84346,CAA84347,CAA84348,CAA84349 Hs.118262 GDB:126094 CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|MGC120730|TS calcium channel, voltage-dependent, alpha 1c subunit protein-coding 735457 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit 704382,1300292,1580863 11160515,17081983,16973824,16921373,15939813,14981074,11581302,11441182,11424233,11292657,11285265,10468580,8738134,7557998,1849233,1664412,1324226,1309948,1309651 704382,1300292 776 NM_000720,AC005905,AC012467,AC024149,AC132810,AF055575,CH471055,D43747,AB209171,EU363339,M76558,M83566 NP_000711,AAD08651,EAW65286,EAW65287,EAW65288,EAW65289,EAW65290,EAW65291,EAW65292,EAW65293,EAW65294,EAW65295,BAA07804,BAD92408,ABY66526,AAA58402,AAA35629,Q01668,Q59GD8,Q71UT1,Q9UDC3 Hs.476358 GDB:128872 CACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3 protein-coding 733702 CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. 1299845,734670,1580863 8071363,18037383,17934712,17727731,17720895,17660294,17189400,17050807,16855219,16382099,15845089,15258581,14702039,12706458,12401453,12202369,11903132,11719851,11179973,11159396,7536609,9799129,9776767,9753159,9656471,8825650,8388125,8358434 1299845,734670 777 NM_000721,AF152379,AF223391,AJ276502,AL160059,AL161734,AL356500,AL359270,AL590998,CH471067,AA349993,AB209499,AK096563,AW452628,BE504178,BI914369,CD580303,L27745,L29384,L29385,R11722 NP_000712,AAD38389,AAF37687,AAF37688,CAB81554,EAW91103,EAW91104,EAW91105,EAW91106,EAW91107,EAW91108,EAW91109,EAW91110,BAD92736,AAA72125,AAA59204,AAA59205,Q15878,Q59FG1,Q5VZB6,Q5VZB7,Q5VZB8,Q9NY05,Q9NYZ5,Q9NYZ6,Q9UN68 Hs.437444 GDB:434408 BII|CACH6|CACNL1A6|Cav2.3 calcium channel, voltage-dependent, l type, alpha 1e subunit protein-coding 731992 CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congential stationary night blindness type 2 (CSNB2). 734671,1580863 15897456,7571473,17949918,17651254,17525176,16960802,16505158,16476079,16382099,16085774,15807819,15772651,15761389,15634789,14973233,12954628,12860808,12853422,12807962,12719097,12552565,12187427,12111638,11281458,10900517,10873387,9662400,9662399,9344658,8933343,8889549,7633454,15452577 734671 778 NM_005183,AF196779,AF235097,AJ006216,CH471224,U93305,AA019975,AF067227,AF201304,AJ224874 NP_005174,CAA06916,EAW50677,EAW50678,EAW50679,EAW50680,EAW50681,EAW50682,EAW50683,AAB92359,AAD03587,AAF15290,CAA12175,O60840,O95226,Q9UHB1 Hs.632799 GDB:119663,GDB:6053864 AIED|COD3|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|JM8|JMC8|OA2 calcium channel, voltage-dependent, alpha 1f subunit protein-coding 68989 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-activated calcium channels can be distinguished based on their voltage-dependence, deactivation, and single-channel conductance. See MIM 601011. Low-voltage-activated calcium channels are referred to as 'T' type because their currents are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing.[supplied by OMIM] 68747,68748,68746,1580863 17591929,17446221,9495342,17397049,16713569,16671074,16382099,15774856,15465033,12752779,12676336,12477932,12168954,11927664,10692398,10648811,10574461,10548410,10493502 68747,68748,68746 8913 NM_198396,NM_198380,NM_198378,NM_018896,NM_198385,NM_198384,NM_198386,NM_198379,NM_198387,NM_198376,NM_198377,NM_198383,NM_198382,NM_198388,NM_198397,AC004590,AC021491,CH471109,AB012043,AB032949,AF029228,AF029229,AF124351,AF126965,AF126966,AF134985,AF134986,AF190860,AF227744,AF227745,AF227746,AF227747,AF227748,AF227749,AF227750,AF227751,BC110995,DQ494449,DQ494450,DQ494451,DQ494452,DQ494454,DQ494455,DQ494456,DQ494457,DQ494458,DQ494459,DQ494460,DQ494461,DQ494462,DQ494463,DQ494464,DQ494465,DQ494453,DQ494466,DQ494467,DQ494468,DQ494469,DQ494470,DQ494471,DQ494472,DQ494473,DQ494474,DQ494475,DQ494476,DQ494477,DQ494478,DQ494479 NP_938406,NP_938194,NP_938192,NP_061496,NP_938199,NP_938198,NP_938200,NP_938193,NP_938201,NP_938190,NP_938191,NP_938197,NP_938196,NP_938202,NP_938407,EAW94596,EAW94597,EAW94598,EAW94599,EAW94600,EAW94601,BAA36409,BAA86437,AAD12731,AAD12732,AAD34352,AAD29400,AAD29401,AAF19347,AAF35287,AAF37689,AAF37690,AAF37691,AAF37692,AAF37693,AAF37694,AAF37695,AAF37696,AAI10996,ABF69900,ABF69901,ABF69902,AAF19346,ABF69903,ABF69904,ABF69905,ABF69906,ABF69907,ABF69908,ABF69909,ABF69910,ABF69911,ABF69912,ABF69913,ABF69914,ABF69915,ABF69916,ABF69917,ABF69918,ABF69919,ABF69920,ABF69921,ABF69922,ABF69923,ABF69924,ABF69925,ABF69926,ABF69927,ABF69928,ABF69929,ABF69930,O43497,Q19QY8,Q19QY9,Q19QZ0,Q19QZ1,Q19QZ2,Q19QZ3,Q19QZ4,Q19QZ5,Q19QZ6,Q19QZ7,Q19QZ8,Q19QZ9,Q19R00,Q19R01,Q19R02,Q19R03,Q19R04,Q19R05,Q19R06,Q19R07,Q19R08,Q19R09,Q19R10,Q19R11,Q19R12,Q19R13,Q19R15,Q19R16,Q19R17,Q19R18,Q2TAC4 Hs.591169 GDB:9957868 Ca(V)T.1|Cav3.1|MGC117234|NBR13 protein-coding 68993 CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). 1358447,1580863 10861024,9670923,18218623,17696120,17215393,17156077,17081983,16973746,16905256,16754686,16565161,16504478,16475676,16443692,16382099,16377633,16303743,16301824,16133267,15852375,15616553,15498803,14729682,14602827,14529577,12891677,12853961,12808460,11927664,11799114,11751928,11157797,10414291,9930755,9110174,8619474,14631046 1358447 8912 NM_021098,NM_001005407,AC120498,AE006466,AF223560,AF223561,AF223562,AF223563,AL031703,AL031715,CH471112,AF051946,AF070604,AF073931,AJ420779,AK074965,CA335096,CD243650,DQ363526,DQ363527,DQ363528,DQ363529,BM554380 NP_066921,NP_001005407,AAK61268,AAF60160,AAF60161,AAF60162,AAF60163,CAC42094,EAW85683,EAW85684,AAC67239,AAD17668,CAD12646,ABC88009,ABC88010,ABC88011,ABC88012,O95180,Q9NYY6,Q9NYY7 Hs.459642 GDB:9957866 CACNA1HB|Cav3.2|EIG6|FLJ90484 protein-coding 68996 CACNA1I calcium channel, voltage-dependent, T type, alpha 1I subunit Voltage-dependent calcium channels control the rapid entry of Ca(2+) into a variety of cell types and are therefore involved in both electrical and cellular signaling. T-type channels, such as CACNA1I, are activated by small membrane depolarizations and can generate burst firing and pacemaker activity.[supplied by OMIM] 1580863 10454147,17535809,16939858,16740636,16382099,15254077,12477932,12080115,11927664,10749850,10591208,10574461 8911 AL022319,CH471095,AB032946,AF129133,AF142567,AF211189,AF393329,BC042972,N52765,NM_021096,NM_001003406,AL008716,AL022312 EAW60345,EAW60346,EAW60347,EAW60348,EAW60349,EAW60350,EAW60351,BAA86434,AAD45251,AAF25722,AAF44626,AAM67414,Q9P0X4,NP_066919,NP_001003406,CAI19180 Hs.125116 GDB:9957864 Cav3.3|KIAA1120 protein-coding 736857 CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. 1300372,1300373,1580863 8188298,8118099,8004673,7987325,7916735,7897626,7847370,7713519,3037387,2844809,1322891,9852570,17418573,11206130,17204937,18229654,17587224,16382099,15726306,15716625,15711422,15072700,14660679,12636044,12496092,9668070,9199552,9175745,8838325,8592342 1300372,1300373 779 AL139159,AL358473,NM_000069,CH471067,U30707,BC133671,L33798,U09784,U14413,U18986 NP_000060,CAI23206,CAI23207,CAI12386,CAI12387,EAW91333,EAW91334,EAW91335,AAB37235,AAI33672,AAA51902,AAA20531,AAC50397,AAC50398,Q12966,Q13062,Q13698,Q5T4J6,Q5T4J7 Hs.1294 GDB:126431 CACNL1A3|CCHL1A3|Cav1.1|HOKPP|MHS5|hypoPP protein-coding 731942 CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 11160515,8107964,17438119,17224476,16335952,14602720,12853948,12477932,10534405,9847074,8188232,7951247,2458626,1309651 781 NM_000722,AC004892,AC004970,AC004989,AC005159,AC006145,AC008283,AF083854,CH236949,CH471091,Z28599,AL707206,BC051339,BC117468,BC117470,BG055272,BI545104,BU501177,M76559 NP_000713,AAD51454,AAC78619,AAD20938,AAF19234,AAF03259,EAW76990,AAH51339,AAI17469,AAI17471,AAA51903,O95026,P54289,Q17R45,Q86VA1,Q9UD80,Q9UD81,Q9UD82,Q9UDL7,Q9UDQ3,Q9UDU5,Q9UIU0 Hs.282151 GDB:132010 CACNA2|CACNL2A|CCHL2A|MHS3 calcium channel, voltage-dependent, alpha2/delta subunit 1 protein-coding 737609 CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. 1580863 17135419,12555074,11851383,11292331,11085536,10766861,10762351,9628581 9254 NM_006030,NM_001005505,AL450422,CH471055,Z84492,AB011130,AF040709,AF042792,AF042793,AJ251367,AJ251368,AK074820,AW451435,AW952467,BC152438,CR615217 NP_006021,NP_001005505,EAW65118,EAW65119,EAW65120,EAW65121,BAA25484,AAC70914,AAB96913,AAB96914,CAB86192,CAB86193,AAI52439,Q7Z6Z1,Q9NY47 Hs.476273,Hs.674666 GDB:9955549 CACNA2D|KIAA0558|LUAC11.1|gene 26 calcium channel, voltage dependent, alpha2/delta subunit 2 protein-coding 1349571 CACNA2D3 calcium channel, voltage-dependent, alpha 2/delta subunit 3 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 17937436,12181424,11329013,11245980,10737800 55799 NM_018398,AC092057,AC092797,AC104298,AC109581,AC109584,AC115282,AC133010,AC137673,AC138059,CH471055,AF516696,AJ272213,AJ272268,AW905454,BC137502,BC137505,BE702896,BE768691,BG206136,BG213431,BI753834 NP_060868,EAW65303,EAW65304,AAN06673,CAB75878,CAB75962,AAI37503,AAI37506,Q8IZS8 Hs.656687 GDB:11500212 HSA272268 protein-coding 1346782 CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 17033974,12477932,12181424 93589 NM_172364,AC005342,AC005343,CH471116,AA001411,AF516695,AI160471,AL137658,BC048288,BC150186,BI908421,BX457018,BX537436,BX537437,CA443847,CR603629 NP_758952,EAW88918,EAW88919,EAW88920,AAN06672,AAH48288,AAI50187,CAD97678,CAD97679,Q7Z3S7 Hs.13768 RCD4 protein-coding 68552 CACNB1 calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. 734675,1580863 1385409,17081983,16713569,14762176,14760703,14623965,12477932,10624822,10465427,10066897,8943043,8905728,8395940,8381767,7916667,1657644,1370480,1309651 734675 782 NM_199248,NM_199247,AC004408,CH471152,U86960,Z21725,Z21726,NM_000723,AB054985,AB209176,AK127283,AK289729,AY393857,BC037311,L06110,L06111,L06112,M76560,M92301,M92302,M92303,AA694045 NP_000714,NP_954856,NP_954855,EAW60556,EAW60557,EAW60558,EAW60559,EAW60560,EAW60561,EAW60562,EAW60563,EAW60564,AAB58779,AAB58780,AAB58781,CAA79824,CAA79825,BAB21444,BAD92413,BAF82418,AAQ97605,AAH37311,AAA36167,AAA36168,AAA36169,AAA51894,AAA35631,AAA35632,AAA35633,Q02641,Q59GD3,Q6TME4,Q8N3X9,Q9UD79,ABM82614,ABW03409 Hs.635 GDB:132012 CAB1|CACNLB1|CCHLB1|MGC41896 protein-coding 732576 CACNB2 calcium channel, voltage-dependent, beta 2 subunit 734673 9254841,8494331,9594024,17224476,16344560,15339916,14762176,14702039,14623965,12719232,12042350,10623591,10567342,10465427,10441130,10066897,9757060,9461395,9252229,8889549,8107964,1309651 734673 783 NM_201596,NM_201593,NM_201597,NM_201571,NM_201572,NM_000724,NM_201590,NM_201570,AL139814,AL162054,AL353603,AL360231,AL390783,AL450364,AL450384,AY027898,CH471072,AB208917,AF137376,AF137377,AF285239,AF423189,AF423190,AF423191,AF423192,AF465485,AK021994,AK022426,AK128769,AL119895,AL599294,AL600557,AY393858,AY393859,AY393860,AY393861,AY393862,AY393863,AY675091,AY675092,BC136409,BM312516,DB235418,DC307859,S60415,U95019 NP_963890,NP_963887,NP_963891,NP_963865,NP_963866,NP_000715,NP_963884,NP_963864,CAH71349,CAH71350,CAH71351,CAH71352,CAH71353,CAO03603,CAO03604,CAO03605,CAO03606,CAH70125,CAH70126,CAH70065,CAH70066,CAO03475,CAI14731,CAI14732,CAI14733,CAI14734,CAI14735,CAO03634,CAO03635,CAO03636,CAO03637,CAH73206,CAH73207,CAH73208,CAH73209,CAH73210,AAK16994,EAW86193,EAW86194,EAW86195,EAW86196,EAW86197,BAD92154,AAD33729,AAD33730,AAG01473,AAL16948,AAL16949,AAL16950,AAL16951,AAL73495,BAC87605,AAQ97606,AAQ97607,AAQ97608,AAQ97609,AAQ97610,AAQ97611,AAV49501,AAV49502,AAI36410,AAB51370,AAB53332,Q08289,Q59H42,Q5QJ99,Q5QJA0,Q5UM67,Q5UM68,Q5VVH1,Q5VWD7,Q5VWD8,Q5VWV6,Q5VWV7,Q6TME0,Q6TME1,Q6TME2,Q6TME3,Q6ZQS8 Hs.709353 GDB:132014 CACNLB2|CAVB2|FLJ23743|MYSB protein-coding 735859 CACNB3 calcium channel, voltage-dependent, beta 3 subunit 1580863 11160515,8825650,16525042,15489334,15170217,14702039,12477932,12181424,12161429,12042350,8621722,8617257,8494331,8119293,7557998 784 NM_000725,AC117498,CH471111,D43704,AK122911,AK289709,BC041811,BI667991,CR604630,CR624564,L27584,U07139,X76555,X76556 NP_000716,EAW58008,EAW58009,BAA07803,BAF82398,AAH41811,AAA19799,AAA95958,CAA54055,CAA54056,P54284 Hs.250712 GDB:341023 CACNLB3 protein-coding 68558 CACNB4 calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein described in this record plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. 734674,1580863 16525042,11880487,8825650,16385006,17618603,16866717,15489334,15342556,15170217,14623965,12477932,10762541,10212211,9757060,9628818,9530629,9442082,9254841,9254840,9252229 734674 785 NM_000726,NM_001005746,NM_001005747,AC068547,AC079790,AC097448,AF216867,CH471058,AB302276,AF038852,AK290049,AK291378,AL700210,AY054985,BC075049,BP229182,BP360802,BX279713,BX484858,BX648679,U95020 NP_000717,NP_001005746,NP_001005747,AAY14759,AAY14711,AAX82014,AAF61674,EAX11493,EAX11494,BAF73808,AAC24206,BAF82738,BAF84067,AAL14351,O00305,Q53S65,Q580I4,Q9NZA2,AAH75049,AAB53333 Hs.614033 GDB:6028693 CAB4|CACNLB4|EA5|EJM protein-coding 732630 CACNG1 calcium channel, voltage-dependent, gamma subunit 1 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. 734675,1580863 12477932,11738816,11170751,10613843,8404045,8395940,8387489,15489334 734675 786 NM_000727,AC005544,CH471099,Z19587,Z19603,AF086300,BC069493,BC113486,BC113492,L07738 NP_000718,EAW89022,CAB62573,CAA79671,AAH69493,AAI13487,AAI13493,AAA51904,Q06432 Hs.147989 GDB:132015 CACNLG protein-coding 731676 CACNG2 calcium channel, voltage-dependent, gamma subunit 2 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family. 1580863 10221464,8825650,18408563,17483093,16793768,16637659,15758178,15567474,15489334,15461802,15001777,14505496,12477932,12359873,11805122,11170751,11140673,10643919,10591208,8387489 10369 NM_006078,AL022313,AL031845,AL049749,CH471095,AF096322,BC069612,BC112297,BC112299,BE670632,BI919073,CR456414 NP_006069,CAI19227,EAW60113,AAD22738,AAH69612,AAI12298,AAI12300,CAG30300,Q9Y698,CAK54405,CAK54704 Hs.670146 GDB:9956477 MGC138502|MGC138504 protein-coding 736548 CACNG3 calcium channel, voltage-dependent, gamma subunit 3 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This protein is similar to the mouse stargazin protein, mutations in which have been associated with absence seizures, also known as petit-mal or spike-wave seizures. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family. This gene is a candidate gene for a familial infantile convulsive disorder with paroxysomal choreoathetosis. 1300374,1580863 10221464,17264864,15489334,14702039,14505496,12477932,11170751,10613843,10493829,8387489 1300374 10368 NM_006539,AC004125,CH471145,AF100346,AF114832,AF134640,AK055453,AK095553,BC033741,BC037899,BC040005,CR623650,T23680 NP_006530,AAC15246,EAW55793,EAW55794,AAD22739,AAP97231,AAF42975,AAH37899,AAH40005,O60359 Hs.7235 GDB:9956476 Cacng2 protein-coding 735495 CACNG4 calcium channel, voltage-dependent, gamma subunit 4 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. 1300374,1580863 10613843,8825650,15489334,14702039,14505496,12477932,11738816,11170751,8387489 1300374 27092 NM_014405,AC005544,AC005988,AF142622,AF142623,AF142624,AF142625,CH471099,AF162692,AK055232,AL526464,AL713655,AL831834,BC004504,BC032765,BC034532,BF508806 NP_055220,AAF03090,EAW89020,EAW89021,AAF14538,CAD28464,AAH34532,Q8TCR4,Q9UBN1,ABM82741,ABM85926 Hs.514423 GDB:10795881 MGC11138|MGC24983 voltage-dependent calcium channel gamma-4 subunit protein-coding 734378 CACNG5 calcium channel, voltage-dependent, gamma subunit 5 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. Two transcript variants encoding different isoforms have been found for this gene. 1300374,1580863 10613843,15489334,12477932,11927536,11738816,11170751,8387489 1300374 27091 AC005988,AF142618,AF142619,AF142620,AF142621,CH471099,AF148220,AF361351,AF458898,AK290171,BC101607,BC101633,NM_145811,NM_014404 NP_055219,AAF03089,EAW89018,EAW89019,AAF00132,AAL50046,AAM00595,BAF82860,AAI01608,AAI01634,Q9UF02,NP_665810 Hs.278907 GDB:10795883 MGC126656|MGC126682 voltage-dependent calcium channel gamma-5 subunit protein-coding 735845 CACNG6 calcium channel, voltage-dependent, gamma subunit 6 L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of several gamma subunit proteins. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is a member of the neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two similar gamma subunit-encoding genes. Three transcript variants encoding different isoforms have been found for this gene. 1580863 11170751,15489334,12477932,11738816,8387489 59285 NM_145814,NM_145815,NM_031897,AC008440,CH471135,AF288386,AF361352,BC021552 NP_665813,NP_665814,NP_114103,EAW72170,EAW72171,EAW72172,AAK20029,AAL50047,AAH21552,Q9BXT2,ABM86136,ABW03776,ABW03468 Hs.631560 GDB:10797018 voltage-dependent calcium channel gamma-6 subunit protein-coding 732586 CACNG7 calcium channel, voltage-dependent, gamma subunit 7 The mouse protein stargazin is one of five subunits comprising neuronal voltage-gated calcium channels. This subunit, gamma, is thought to stabilize the calcium channel in an inactive (closed) state. Mutations in the gene encoding stargazin have been associated with absence seizures, also known as petit-mal or spike-wave seizures. The protein encoded by this gene is structurally similar to the mouse stargazin protein and is a member of the neuronal calcium channel gamma subunit protein family. However, it appears unlikely that the encoded protein is part of a functional calcium channel. Rather, it appears to inhibit the expression of a specific calcium channel subunit. 11170751,15489334,12477932,11927536,11738816,8387489 59284 AF458897,AL537399,BC069332,BC093869,BC113503,NM_031896,AC008440,CH471135,AF288387,AF361353 AAL50048,AAM00594,AAH69332,AAH93869,AAI13504,P62955,NP_114102,EAW72162,EAW72163,EAW72164,EAW72165,EAW72166,AAK20030 Hs.631597 GDB:10797019 voltage-dependent calcium channel gamma-7 subunit protein-coding 732322 CACNG8 calcium channel, voltage-dependent, gamma subunit 8 Voltage-dependent calcium channels couple membrane depolarization in a number of cellular processes. These activities are regulated by distinct channels composed of the pore-forming alpha-1 subunit and the modulatory beta, alpha-2/delta and gamma subunits. The protein encoded by this gene represents one of the gamma subunits. It is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is located in a cluster with two similar gamma subunit-encoding genes on chromosome 19. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. 1580863 11170751,11738816 59283 NM_031895,AC008440,CH471135,AF234892,AF288388,AF361354 NP_114101,EAW72168,AAK15019,AAK20031,AAL50049,Q8WXS5,AAI57120 Hs.631595 GDB:10797020 voltage-dependent calcium channel gamma-8 subunit protein-coding 1346732 CACYBP calcyclin binding protein The protein encoded by this gene is a calcyclin binding protein. It may be involved in calcium-dependent ubiquitination and subsequent proteosomal degradation of target proteins. It probably serves as a molecular bridge in ubiquitin E3 complexes and participates in the ubiquitin-mediated degradation of beta-catenin. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 17353931,18171983,17400182,16085652,15489334,14702039,12895292,12477932,12421809,12042313,12006993,11927578,11389839,16189514 27101 BC005975,BC022352,BC067823,BC078151,BQ432793,CA951015,CR591438,CR591604,CR591846,CR601618,CR605339,CR607143,CR616181,CR622419,CR623770,CR626371,NM_001007214,NM_014412,AX058084,CH471067,Z99127,AF057356,AF275803,AF314752,AK093425,AL035305,AW300675,AY423723 AAH05975,AAH22352,AAH67823,AAH78151,Q5R370,Q5R371,Q6NVY0,Q9HB71,NP_001007215,NP_055227,CAC22475,EAW90982,EAW90983,CAI18938,CAI18939,AAC21458,AAG23817,AAG34170,CAA22910,AAS00486 Hs.508524 GIG5|MGC87971|PNAS-107|RP1-102G20.6|S100A6BP|SIP protein-coding 1348167 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. 1580863 8619816,17081983,16964243,16155188,15890648,15621215,15489334,15324660,14559996,14523024,12746293,12477932,12438317,11986331,11854437,9525610,4092695,2885743,2565865,1979741,14743216 790 NM_004341,AC013403,AC013413,CH471053,M38561,AK226105,BC014178,BC065510,BM927624,BU541191,BU558264,D78586 NP_004332,AAX93165,AAY24293,EAX00612,EAX00613,EAX00614,AAA51907,AAH14178,AAH65510,BAA11423,P27708,Q53SY7,Q53SZ4,Q96CK3 Hs.377010 GDB:119742 protein-coding 1322220 CADM1 cell adhesion molecule 1 1580863,2289088,2289091,2289095,2289096,2289089,2289090 12826663,15811952,18332875,17326163,17300670,17260099,17130425,17018592,16394014,16311015,16303743,16205641,16108829,16083501,15905536,15781451,15535129,15471956,15231748,15184878,14970278,14639656,14633730,14559819,13679854,12975309,12973698,12942568,12925956,12920246,12716461,12477932,12432281,12234973,12202822,12112527,12079507,12050160,11279526,10610705 2289088,2289091,2289095,2289096,2289089,2289090 23705 NM_001098517,NM_014333,AB017563,AP000462,AP000465,AP003174,AP003179,AP005020,CH471065,CS019549,AB094146,AF132811,AK075502,AK172730,AL080181,AY309502,AY358334,BC035930,BC047021,BC125102,BC125103,BI915307,BM309987,BX641042,BX647110,CA447277,CA777709,CR457157,CR612188 NP_001091987,NP_055148,BAA75822,EAW67256,EAW67257,EAW67258,EAW67259,EAW67260,CAI58842,BAC66178,AAF69029,BAC11657,AAQ81866,AAQ88700,AAH47021,AAI25103,AAI25104,CAE46024,CAG33438,A0A4Z1,Q6MZK6,Q9BY67 Hs.370510 GDB:10450510 BL2|DKFZp686F1789|IGSF4|IGSF4A|MGC149785|MGC51880|NECL2|Necl-2|RA175|ST17|SYNCAM|TSLC1|sTSLC-1|sgIGSF|synCAM1 immunoglobulin superfamily, member 4 protein-coding 1313847 CADM2 cell adhesion molecule 2 Members of the large immunoglobulin (Ig) superfamily, such as IGSF4D, have diverse roles in extracellular recognition and intercellular adhesion (Biederer, 2006 [PubMed 16311015]).[supplied by OMIM] 16311015,12477932,8889548 253559 NM_153184,AC107024,AC117452,AC119726,AC119729,AC134650,CH471110,AF538973,AL833049,AL834270,BC105999,BC112136,BC112138,BM674450,BX954585 NP_694854,EAW68874,EAW68875,AAN16368,CAH56314,CAD38945,AAI06000,AAI12137,AAI12139,Q8N3J6 Hs.164578 IGSF4D|MGC104534|MGC138341|MGC138343|NECL3|Necl-3|synCAM2 immunoglobulin superfamily, member 4d protein-coding 1315991 CADM3 cell adhesion molecule 3 IGSF4B is a brain-specific protein related to the calcium-independent cell-cell adhesion molecules known as nectins (see PVRL3; MIM 607147) (Kakunaga et al., 2005 [PubMed 15741237]).[supplied by OMIM] 12826663,16710414,16467305,15893517,15741237,15340161,14702039,14659875,12975309,12477932,11536053 57863 NM_001127173,AL035403,AY663416,AY663417,AY663418,AY663419,AY663420,AY663421,AY663422,AY663423,NM_021189,AY663424,AY663425,AY663426,AY663427,AY663428,AY663429,AY663430,AY663431,AY663432,AY663433,CH471121,CS019555,CS019557,DQ181553,DQ181554,DQ181555,DQ181556,DQ181557,DQ181558,DQ181559,DQ181560,DQ181561,DQ181562,DQ181563,DQ181564,DQ181565,DQ181566,DQ181567,AF062733,AF363367,AF529206,AK001560,AK289541,AY046418,AY358332,BC033819,CR605082 NP_067012,NP_001120645,CAB56227,CAI17893,CAI17894,AAU47274,AAU47277,AAU47280,AAU47283,AAU47286,AAU47289,AAU47292,AAU47295,AAU47298,AAU47301,AAU47304,AAU47307,AAU47310,AAU47313,AAU47316,AAU47319,AAU47322,AAU47325,EAW52792,EAW52793,EAW52794,CAI58844,CAI58845,ABA10402,ABA10405,ABA10408,ABA10411,ABA10414,ABA10417,ABA10420,ABA10423,ABA10426,ABA10429,ABA10432,ABA10435,ABA10438,ABA10441,ABA10444,AAD17540,AAM60749,AAN75603,BAA91756,BAF82230,AAL02143,AAQ88698,AAH33819,Q8N126,ABM81774,ABM84928 Hs.365689 BIgR|FLJ10698|IGSF4B|NECL1|Necl-1|TSLL1|synCAM3 immunoglobulin superfamily, member 4b protein-coding 1312331 CADM4 cell adhesion molecule 4 16261159,12477932,11536053 199731 NM_145296,AC005525,CH471126,AF363368,BC068457,BC113963 AAI13964,Q6NUR8,Q8NFZ8,AAI40327,AAI41628,NP_660339,AAC32740,EAW57212,EAW57213,EAW57214,AAM60750 Hs.370984 IGSF4C|Necl-4|TSLL2|synCAM4 immunoglobulin superfamily, member 4c protein-coding 1344966 CADPS Ca2+-dependent secretion activator CADPS encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. CADPS acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. 1299540,1580863 1516133,15857609,15489334,14702039,14530279,12659812,12477932,12421765,12168954,10574461,9697858,9525942,9289490,1429734 1299540 8618 NM_003716,NM_183394,NM_183393,AC012519,AC092039,AC104161,AC124860,CH471055,AB032947,AF458662,AK000873,AK127506,AL833895,BC015754,BC029460,BC035100,BC072684,BC131731,BX647166,CR617234,R54020,U36448 NP_003707,NP_899631,NP_899630,EAW65405,EAW65406,EAW65407,EAW65408,EAW65409,EAW65410,EAW65411,BAA86435,AAM61861,BAC87012,CAD38751,AAH15754,AAH29460,AAH72684,AAI31732,AAA79701,Q6ZSE1,Q9ULU8 Hs.654933 GDB:9958824 CADPS1|CAPS|CAPS1|KIAA1121 protein-coding 1342691 CADPS2 Ca2+-dependent activator protein for secretion 2 17380209,16344560,15857609,15489334,14702039,14530279,12659812,12477932,10997877,12421765 93664 NM_001009571,NM_017954,AC004594,AC004838,AC004986,AC006009,AC006463,AC015983,AC091438,CH236947,CH471070,AB046811,AF401638,AK000768,AK025672,AK054853,AK126518,AL833058,AY264289,BC054339,BX110721,DA323097 NP_001009571,NP_060424,EAL24339,EAW83571,EAW83572,EAW83573,EAW83574,EAW83575,EAW83576,BAB13417,AAN38707,BAA91372,BAB15210,CAH56288,AAP22132,AAH54339,Q86UW7 Hs.708214 GDB:11508819 FLJ40851|KIAA1591 protein-coding 1604175 CAGE1 cancer antigen 1 17786288,17114284,16964403,15489334,14702039,14574404,12531476,12477932 285782 NM_205864,AL139095,CH471087,AF414185,AK097760,BC026188,BC026194,BC033545 NP_995586,CAI16449,CAI16451,EAW55206,EAW55207,EAW55208,EAW55209,AAO47239,BAC05162,AAH26194,AAH33545,Q8TC20,ABM83382,ABM86594 Hs.699196 CTAG3|FLJ40441|bA69L16.7 protein-coding 732083 CALB1 calbindin 1, 28kDa Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease are calbindin-depleted. 704404,633843,704383,1580863 3691519,18359862,17156698,16421571,15741335,15641794,15489334,14702039,12684061,12606474,12520521,12477932,12176979,11994015,10841767,9373717,8739042,7943215,2897519,2565876,1906795,1713126,1537319 633843,704383 793 NM_004929,AC004612,AC123779,AF068862,AF070717,CH471060,M19878,M19879,AK054881,BC006478,BC020864,BX537530,S46006,X06661 NP_004920,AAC14672,AAC62230,AAC25277,EAW91665,EAW91666,AAA98991,AAA98992,AAH06478,AAH20864,AAB19408,CAA29860,O75552,P05937 Hs.65425 GDB:119744 CALB calbindin 1 protein-coding 731363 CALB2 calbindin 2 This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. Three alternatively spliced transcript variants that encode different proteins have been described. 1580863 18269580,18223328,18214032,18189312,18091323,17535091,16415795,16289944,15950053,15489334,15285029,12542677,12477932,12359331,12064772,12051635,11642722,10942575,9452956,9373149,9370058,8125298,7643192,7607211,2618861,2001709,1906795,16189514 794 NM_007087,NM_007088,AC106736,CH471166,X56668,AK222495,AK222648,AK291096,BC015484,NM_001740,BX116479,X56667 NP_001731,NP_009018,NP_009019,EAW59240,EAW59241,EAW59242,EAW59243,EAW59244,CAA39992,BAD96215,BAD96368,BAF83785,AAH15484,CAA39991,P22676 Hs.106857 GDB:125374 CAL2 calbindin 2|calbindin 2, 29kDa (calretinin) protein-coding 730992 CALCA calcitonin-related polypeptide alpha Calcitonin is a peptide hormone synthesized by the parafollicular cells of the thyroid. It causes reduction in serum calcium, an effect opposite to that of parathyroid hormone (PTH; MIM 168450).[supplied by OMIM] 1580863,734677 8078488,8940110,10822112,16014619,17983652,2408883,9685362,17267696,1326102,10642343,17241109,11014233,16904178,3266556,18057382,18384419,18211417,18197882,18180663,18167349,17941085,17785463,17676478,17669797,17558349,17535749,17485015,17481780,17441790,17381353,17251226,17149558,17123735,17101796,17038199,17026622,16996466,16890288,16840549,16720289,16712930,16710309,16611736,16597919,16574742,16531504,16511394,16439457,16236878,15880427,15784626,15761654,15761041,15621724,15489334,15449935,15319367,15168342,14984255,14759258,14745805,14684361,14668209,14654229,14627864,14586070,12917321,12871824,12728303,12594852,12590613,12540523,12529288,12517415,12477932,12446725,12369791,12359227,12234182,12231407,12220731,12213903,12198603,12063634,11803621,11389975,11337490,11317366,11185743,10754330,9620797,8626685,8468047,8405394,6610687,6609312,6546550,6327497,6148938,6132180,5760861,3872459,3549095,3492492,3485540,3259294,3034287,3001670,2983422,2578663,2571128,2502220,2039456,2001366,1988044,1761559,1318039,15155765 734677 796 NM_001033953,NM_001033952,NM_001741,A15601,AC090835,CH471064,DQ080435,M12666,M12667,M26094,M28637,X15943,BC069684,BC069704,BC069760,BC069778,BC093753,BC101599,BF447272,BF942024,K03512,K03513,M26095,M64486,X00356,X02330,X03662 NP_001029125,NP_001029124,NP_001732,CAA01243,EAW68468,EAW68469,AAY68212,AAA51913,AAA51914,AAA51912,AAA52012,CAA34070,AAH69684,AAH69704,AAH69760,AAH69778,AAH93753,AAI01600,AAA52011,AAA52124,AAA35501,AAA58403,CAA25103,CAA26189,CAA26190,CAA27299,P01258,P06881 Hs.37058 GDB:120571 CALC1|CGRP|CGRP-I|CGRP1|CT|KC|MGC126648 calcitonin/calcitonin-related polypeptide, alpha protein-coding 1350431 CALCB calcitonin-related polypeptide beta 1580863 2985435,15761041,15489334,14702039,12477932,11803621,8468047,6091915,3493259,3492492,3492393,2322288,1318039 797 NM_000728,AC090744,CH471064,X04855,X04861,AI937230,AK054728,AK291188,BC008428,BC092468,BI668461,M28640,M28641,X02404 NP_000719,EAW68466,EAW68467,CAC05295,BAF83877,AAH92468,CAA26249,P10092 Hs.534305 GDB:120572 CALC2|CGRP-II|CGRP2|FLJ30166 calcitonin-related polypeptide, beta protein-coding 731717 CALCOCO1 calcium binding and coiled-coil domain 1 16931570,16713569,16381901,16344550,16189514,15522220,15489336,14702039,12975309,12601173,12477932,11256614,11230166,11076863,10819331,9373149,8125298 57658 NM_020898,AC076968,CH471054,AB040969,AF370415,AK027881,AK092788,AK122773,AK222646,AL136895,AY211909,AY358397,AY563137,BC003177,BX538208,CR533567,CR597517,CR598215 NP_065949,EAW96727,EAW96728,EAW96729,EAW96730,EAW96731,EAW96732,EAW96733,BAA96060,AAQ15251,BAB55428,CAB66829,AAO65163,AAQ88763,AAT68474,AAH03177,CAD98068,CAG38598,Q53HD4,Q7Z313,Q9P1Z2,CAL38131 Hs.156667 Cocoa|KIAA1536|PP13275|calphoglin kiaa1536 protein protein-coding 1601886 CALCOCO2 calcium binding and coiled-coil domain 2 The protein encoded by this gene is a subunit of nuclear domain 10 (ND10) bodies. ND10 bodies are nuclear domains appearing immunohistochemically as ten dots per nucleus. They are believed to be associated with the nuclear matrix on the basis of their resistance to nuclease digestion and salt extraction. ND10 proteins are removed from the nucleus by herpes simplex virus-1 infection and may have a role in viral life cycles. 12869526,7540613,9230084,17635994,16189514,15231748,14747555,12477932,12033769,9373149,8125298 10241 AK223227,BC004130,BC015893,BG773301,BU620013,CR456763,CR619500,NM_005831,AC068531,CH471109,AF085965,AK222666,U22897 BAD96386,BAD96947,AAH04130,AAH15893,CAG33044,NP_005822,EAW94707,EAW94708,AAA75297,Q13137 Hs.514920 MGC17318|NDP52 protein-coding 1351311 CALCP calcitonin pseudogene 2898385 798 NG_001088,AC090835,X07964,X07965 GDB:119745 CALC3 pseudo 731272 CALCR calcitonin receptor 704404,1580863 8078488,15563840,7619207,1331173,11250927,7588285,17709929,17487556,16713399,16412323,16363366,16280328,15966503,15929987,15860547,15856322,15670850,15490304,15489334,15340161,15279076,15155765,15086532,14614653,14583624,12905735,12853948,12771454,12690205,12565884,12531889,12477932,12375338,12016463,11858573,11560994,11464063,11353946,11298188,11136533,10865224,10570950,10385705,9817931,9571205,8143880,7961748,7789182,7733946,7720653,12821648,12517415 799 NM_001742,AC003078,AC005024,CH236949,CH471091,S77876,AB022177,AB022178,AJ831406,AJ831407,AY430048,BC069611,BC075028,L00587,U26553,U26554,X69920,X82466 NP_001733,AAB83945,EAL24142,EAW76813,EAW76814,AAD14268,BAA86929,BAA86928,CAH40796,CAH40797,AAR06949,AAH69611,AAH75028,AAA35640,AAC50300,AAC50301,CAA49541,CAA57849,P30988,Q5ZGL8,Q659U6 Hs.489127 GDB:138127 CRT|CTR|CTR1 1643401 BMD1_H protein-coding 733108 CALCRL calcitonin receptor-like 1580863 7818539,18198792,17785463,17675298,17503773,17310067,17067815,16622024,16495482,16410241,16344560,16293613,15797661,15641806,15613468,15340161,15245870,14722252,14668209,12824306,12684703,12684503,12630808,12574158,12538603,12490608,12419522,12234182,12213903,12128288,12093471,12084528,11973435,11937264,11921352,11814625,11693189,11535606,11420389,11389975,11387328,10903324,10882736,10772950,10767413,10217420,9876047,9620797,8626685,3001670,2826160,14615490 10203 NM_005795,AC007319,AC074020,CH471058,AA436933,AA961493,AK291630,AK292998,AL602685,AY389506,BQ002778,CB270158,DA097876,DA215003,DA217003,DA883991,DQ280491,L76380,U17473 NP_005786,AAY14806,AAY14996,EAX10925,EAX10926,BAF84319,BAF85687,AAQ91332,ABC16643,AAC41994,AAA62158,Q16602,Q2PZS6,Q53S02,Q53TS5,AAI56828 Hs.470882 GDB:3811830 CGRPR|CRLR protein-coding 730856 CALD1 caldesmon 1 This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. 1580863 11759055,11736632,1555769,16130169,17631293,17582218,17081983,16800003,16115893,15958622,15521070,15489334,15456752,15226374,15161654,15047636,14960328,14702039,12953833,12613668,12477932,11996092,11894847,11098082,10919986,10766836,10559276,9415999,9003189,8889548,8581978,8307018,3242591,1885618,1601129,1465449,1445920,16189514 800 NM_033157,NM_004342,NM_033139,NM_033140,AC019014,AC083870,BX640946,CH236950,CH471070,CS158819,AB062484,AF247820,AF315788,AI926727,AJ223812,AK021691,AK022222,AK022456,AK289686,AL601004,BC005006,BC014035,BC015839,BC040354,BC061926,BF675655,BF965359,BQ010124,BU683034,BX538339,BX648808,BX649088,CA433571,CD359921,CR591226,CR600262,D90452,D90453,NM_033138,M64110,M83216 Q9UD91,NP_149129,NP_149347,NP_004333,NP_149130,NP_149131,EAW83826,EAW83827,EAW83828,EAW83829,EAW83830,EAW83831,EAW83832,EAW83833,EAW83834,EAW83835,CAJ29926,BAB93509,AAF69498,BAF82375,AAH05006,AAH14035,AAH40354,AAH61926,CAD98104,CAI46261,BAA14418,BAA14419,AAA35636,AAA58419,AAA58420,Q05682,Q05DR4,Q5HY93,Q6P707,Q6PJM5,Q7Z2Y9,Q8NI76,Q9NYG1 Hs.490203 GDB:133717 CDM|H-CAD|L-CAD|MGC21352|NAG22 protein-coding 735369 CALM1 calmodulin 1 (phosphorylase kinase, delta) Calmodulin is the archetype of the family of calcium-modulated proteins of which nearly 20 members have been found. They are identified by their occurrence in the cytosol or on membranes facing the cytosol and by a high affinity for calcium. Calmodulin contains 149 amino acids and has 4 calcium-binding domains. Its functions include roles in growth and the cell cycle as well as in signal transduction and the synthesis and release of neurotransmitters.[supplied by OMIM] 1300048 18452398,18178620,18001530,17884685,17580302,17569884,16627785,16613843,16359877,16344560,16299511,16258073,16154564,16127172,16030015,16084495,16013055,15902271,15817490,15806159,15746192,15746150,15670850,15632291,15583004,15522886,15316014,15229223,15147735,15104175,15087444,14613930,14594800,14551202,12925680,12821674,12808128,12805215,12727204,12724311,12715898,12626507,12556500,12509414,12477932,12475216,12446675,12408866,12358748,12223552,12153558,12135876,12051765,12034722,12032157,12006621,11984006,11981030,11953448,11827172,11741295,11736632,11585916,11457836,11448995,11395482,11323678,11278607,11248124,11178895,9202019,9188503,9115241,9092566,9009191,9003189,8901523,8900147,8824319,8769426,8756646,8670801,8663089,8639568,8625412,8486648,8314583,8206911,7947686,7925473,7887964,7836475,7642608,7593266,7559563,7525583,7490111,6847627,6385987,3472906,3350007,3111527,2507540,2487274,2455687,2223880,2161834,11171103,11054265,10899953,10893241,10860555,10852921,10816571,10757985,10748158,10747990,10692436,10681496,10547355,10488094,10416864,10411641,10333484,10088721,10075700,10075657,10026200,10026195,9952395,9923700,9837900,9822657,9753452,9728925,9681195,9512352,9490638,9374536,9341188,9278050,2123288,1790714,1660262,1544444,1520270,1332771,11072229,8312049,8226798,9282777,17046994,16229872,10625668,9658102,8862395,8780394,9362478,8573130,2062825,1872871,9096366,11847276,12809501,14695896,16189514,15746172,14960328,8872303,15664518,14985437 801 NM_006888,AC006536,AL512791,CH471061,U12022,AK289937,AU122722,AY189287,BC000454,BC007965,BC008597,BC011834,BC042831,BC047523,BT006818,BX479707,BX482177,BX537677,BX648223,CR590380,CR591035,CR592381,CR595745,CR604747,CR611512,CR618763,CR619428,CR626701,M27319,U16850 NP_008819,AAD45181,EAW81427,EAW81428,AAB60644,BAF82626,AAO86731,AAH00454,AAH07965,AAH08597,AAH11834,AAH47523,AAP35464,AAA35635,P62158,Q96HY3 Hs.282410,Hs.708270 GDB:127560 CALML2|CAMI|DD132|PHKD calmodulin 1 protein-coding 1345562 CALM1P1 calmodulin 1 (phosphorylase kinase, delta) pseudogene 1 7925473 802 NG_001089,AL022161,U12435 GDB:681440 pseudo 1344159 CALM1P2 calmodulin 1 (phosphorylase kinase, delta) pseudogene 2 7925473 804 NG_001090,AC073324,CH236957,U12475 GDB:433806 pseudo 736342 CALM2 calmodulin 2 (phosphorylase kinase, delta) 1300048 14702039,12477932,12221128,12189141,12153558,12051765,12032157,11981030,11953448,11741295,11736632,14613930,12577052,11591728,11054265,10899953,10823944,10816571,10757985,10692436,10416864,9923700,9681195,9278050,9242710,8314583,8076819,3111527,2445749,2223880,11072229,8312049,8226798,9282777,17046994,16229872,10625668,9658102,8862395,8780394,9362478,8573130,9096366,11847276,17687619,16545345,16189514,15723066,15632291,15225611 805 AC073283,CH471053,U94725,U94726,U94727,U94728,AK055130,BC003354,BC006464,BC008437,BC017385,BC018677,BC026065,BC047553,BT009916,CR541990,CR542021,CR590655,CR591343,CR592069,CR592350,CR593656,CR594016,CR597132,CR601833,CR604986,CR605016,CR605025,CR605532,CR605655,CR605737,CR606009,CR606757,CR607251,CR607372,CR609213,CR614176,CR615210,CR617592,CR617995,CR618742,CR621576,CR621831,CR624584,CR625162,D45887,M19311,NM_001743 NP_001734,AAY24085,EAX00220,EAX00221,EAX00222,EAX00223,AAC83174,AAH03354,AAH06464,AAH08437,AAH17385,AAH18677,AAH26065,AAH47553,AAP88918,CAG46787,CAG46818,BAA08302,AAA35641,P62158,Q96HY3 Hs.643483 GDB:127561 CAMII|PHKD|PHKD2 protein-coding 1353740 CALM2P1 calmodulin 2 pseudogene 1 2717417 803 NG_002716,X13907 GDB:128687 pseudo 1344512 CALM2P2 calmodulin 2 pseudogene 2 1999288 806 NG_001091,AL731540,X52955 GDB:128591 pseudo 1350868 CALM2P3 calmodulin 2 pseudogene 3 1999288 807 NG_004858,AL354696,X52956 GDB:128592 pseudo 737387 CALM3 calmodulin 3 (phosphorylase kinase, delta) 1300048 15592455,15489334,14702039,12871148,12577052,12508121,12485993,12477932,12153558,12051765,12032157,11981030,11953448,11807546,11741295,11736632,11710561,11685248,11591728,11054265,10816571,10757985,10737800,10416864,9927666,9804419,9278050,8476923,8314583,7925473,7803388,7093203,6385987,3182832,2445749,2244899,1474585,11072229,8312049,8226798,9256481,17046994,16229872,10625668,15632291,2223880,9681195,3111527,10692436,15140941,14613930,9923700,10899953,9188442,9580552,10781589,16299511,15815621,15746192,15719022,9658102,8862395,8780394,9362478,8573130,9096366,11847276,17353931,16189514,14743216 808 AC093503,CH471126,X52606,NM_005184,X52608,AK094964,AL050207,AW883334,BC005137,BC006182,BG753029,BT006855,CR603846,CR604087,CR616035,CR626367,J04046 NP_005175,EAW57425,EAW57426,EAW57427,EAW57428,EAW57429,CAA36839,AAH05137,AAH06182,AAP35501,AAA51918,P62158,Q96HY3,Q9BRL5 Hs.515487,Hs.706125 GDB:127562 PHKD|PHKD3 calmodulin 3 protein-coding 1352091 CALML1 calmodulin-like 1 809 GDB:119746 1313562 CALML3 calmodulin-like 3 1580863 8428750,17130134,16189514,15489334,15164054,12477932,12067719,11426940,11278607,8507643,8476923,3181418,2217169,1334432 810 NM_005185,AL732437,CH471072,X13461,BC031889,M36707,M58026 NP_005176,CAI11029,EAW86443,CAA31809,AAH31889,AAA36356,P27482,ABM82702,ABM85886 Hs.239600 GDB:138290 CLP protein-coding 1344788 CALML4 calmodulin-like 4 16344560,14702039,12747765,12477932 91860 NM_033429,AC107871,CH471082,AF308287,AK092628,BC009516,BC015215,BX640702,BX640817,CR598967,CR608147,DB204573,NM_001031733 NP_001026903,NP_219501,EAW77808,EAW77809,EAW77810,AAG48255,AAH09516,CAE45822,CAE45894,Q6MZY3,Q96GE6 Hs.709550 MGC4809|NY-BR-20 protein-coding 1320724 CALML5 calmodulin-like 5 This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. 1580863 10777582,17353931,16765896,16689864,15489334,12477932,11969404,11407979,9373149,8125298,16189514 51806 NM_017422,AL732437,CH471072,AF172852,AK222744,BC039172 NP_059118,CAI11030,EAW86444,AAF66821,BAD96464,AAH39172,Q53H37,Q5SQI3,Q9NZT1 Hs.180142 CLSP protein-coding 1346825 CALML6 calmodulin-like 6 1580863 16710414,15621662,12477932 163688 NM_138705,AL109917,CH471183,AF490905,AY566229,BC053567 NP_619650,CAI95655,CAM12839,EAW56144,EAW56145,EAW56146,AAM08411,AAS67001,Q4VXS7,Q8TD86,AAI60060 Hs.85902 CAGLP protein-coding 1314120 CALN1 calneuron 1 This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. 1580863 16344560,15489334,14702039,12853948,12690205,12477932,11286509,9847074,9110174,8619474 83698 NM_031468,NM_001017440,AC004845,AC004905,AC005011,AC006334,AC067941,AC092424,AC092785,CH236952,CH471140,AF282250,AK091485,AK094469,AK123862,AL117636,AY007302,AY726595,BC020200,BG718538,DA101934,DA150825,DA805580 NP_113656,NP_001017440,AAP21889,AAS02041,AAP21872,AAS07507,AAS07466,EAL23970,EAX07901,EAX07902,AAK15155,AAG09620,AAH20200,Q75MI2,Q75MP5,Q75MW5,Q86UL5,Q86UM7,Q9BXU9,ABM83066,ABM86260 Hs.592750 GDB:11500210 protein-coding 731575 CALR calreticulin Calreticulin is a multifunctional protein that acts as a major Ca(2+)-binding (storage) protein in the lumen of the endoplasmic reticulum. It is also found in the nucleus, suggesting that it may have a role in transcription regulation. Calreticulin binds to the synthetic peptide KLGFFKR, which is almost identical to an amino acid sequence in the DNA-binding domain of the superfamily of nuclear receptors. Calreticulin binds to antibodies in certain sera of systemic lupus and Sjogren patients which contain anti-Ro/SSA antibodies, it is highly conserved among species, and it is located in the endoplasmic and sarcoplasmic reticulum where it may bind calcium. The amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor and prevents the receptor from binding to its specific glucocorticoid response element. Calreticulin can inhibit the binding of androgen receptor to its hormone-responsive DNA element and can inhibit androgen receptor and retinoic acid receptor transcriptional activities in vivo, as well as retinoic acid-induced neuronal differentiation. Thus, calreticulin can act as an important modulator of the regulation of gene transcription by nuclear hormone receptors. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin but calreticulin is not a Ro/SS-A antigen. Earlier papers referred to calreticulin as an Ro/SS-A antigen but this was later disproven. Increased autoantibody titer against human calreticulin is found in infants with complete congenital heart block of both the IgG and IgM classes. 1580863,704416 11149926,16130169,8107808,18221019,18022694,17982021,17959730,17947714,17655857,17563366,17499031,17390051,17009399,16974078,16951317,16951181,16542777,16527813,16522185,16236267,16140380,15952740,15893733,15855281,15634883,15596044,15494401,15489334,15383281,15371419,15351734,15236594,15057824,14985176,14980518,14732231,14624761,12821648,12740382,12704787,12646570,12584332,12538033,12477932,12397072,12383251,12362238,12324449,12242300,12239218,12235131,12196561,12147682,12065601,11891802,11378243,11327697,11322874,10887119,10547375,10513896,10508608,10436013,10364189,10358038,9988700,9693955,9671507,9545232,9525969,9373149,9359841,9312001,9150948,9089287,9036970,8910335,8904349,8805302,8769474,8662691,8550632,8537405,8418194,8125298,8107809,8062452,8050453,8006073,7923996,7876246,7622522,7592883,7559457,3260607,2400400,2365822,2332496,1939344,1919005,1911778,1733953,1286669,1286667,17353931,16189514,11765911,12052826 704416 811 BC107102,BT007448,CR457070,CR590159,CR598365,CR604311,CR608681,CR613536,CR613586,CR619960,CR625160,M32294,M84739,AC092069,AD000092,CH471106,CS288581,AF087986,AK130190,AK223060,AY047586,BC002500,BC007911,BC020493,NM_004343 AAH20493,AAP36116,CAG33351,AAA36582,AAA51916,P27797,Q3B830,Q53G71,Q6IAT4,NP_004334,AAB51176,EAW84330,EAW84331,EAW84332,CAK18761,BAD96780,AAL13126,AAH02500,AAH07911 Hs.515162 GDB:125179 CRT|FLJ26680|RO|SSA|cC1qR protein-coding 1319475 CALR3 calreticulin 3 Calreticulins, such as CALR3, are Ca(2+)-binding chaperones localized mainly in the endoplasmic/sarcoplasmic reticulum Persson et al. (2002) [PubMed 12384296].[supplied by OMIM] 1580863 17975137,15489334,15342556,14702039,12477932,12384296 125972 NM_145046,AC008764,CH471106,CS288583,AK058084,BC014595,BP370084,DB459545,DB510196 NP_659483,EAW84546,CAK18762,BAB71655,AAH14595,Q96L12,ABM81829,ABM84982 Hs.304020 CRT2|FLJ25355|MGC26577 protein-coding 733017 CALU calumenin Calumenin (CALU) is a calcium-binding protein localized in the endoplasmic reticulum (ER) and is involved in such ER functions as protein folding and sorting. Calumenin is a member of the EF-hand superfamily in the ER and Golgi apparatus named CERC. CERC is an acronym for its family members Cab-45, reticulocalbin, Erc-55, and calumenin. The CALU gene encodes a deduced 315-amino acid protein containing 6 EF-hand motifs, 1 potential N-glycosylation site, and a C-terminal ER retention signal. The human and mouse CALU proteins are 98% identical. CALU mRNA is ubiquitously expressed in human tissues and maps to 7q32. 1580863 17596133,17189218,17081983,17081065,17049586,17048007,16964243,16381901,16303743,15489336,15489334,14702039,12690205,12665801,12643545,12477932,11230166,11076863,10631319,10222138,9675259,9598325,16189514,10094503,9218460 813 AC024952,CH236950,CH471070,AF013759,AF257659,AF345637,AK027460,AK056338,AK074862,AK075089,BC013383,BT006826,BT020143,CR457039,CR541835,CR594466,CR596192,CR598627,U67280,NM_001219 NP_001210,EAL24113,EAW83674,EAW83675,EAW83676,EAW83677,EAW83678,EAW83679,AAC17216,AAF76141,AAK72908,AAH13383,AAP35472,AAV38945,CAG33320,CAG46634,AAB97725,O43852,Q0JS23,Q0JS80,Q0JT29,Q0JT96,Q0JTV2,Q0JUA4,Q0JUW5,Q0JV72,Q6IAW5,CAL37464,CAL37467,CAL37505,CAL37557,CAL37588,CAL37696,CAL37834,CAL37878,CAL37907,CAL37987,CAL38060,CAL38141,CAL38267,CAL38335,CAL38634,CAL38691,ABM83159,ABM86360 Hs.7753,Hs.702061 GDB:6383033 FLJ90608 reticulocalbin protein-coding 1601759 CALY calcyon neuron-specific vesicular protein The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. 16172615,15489334,14755439,14534309,12477932,11583808,10698743,17885599,17623072,17081983,16595675 50632 NM_015722,AL360181,CH471211,AF225903,BC038978,BI914942,BP392207,CR606939 NP_056537,CAH70279,CAH70280,CAH70281,EAW61334,EAW61335,AAF34714,AAH38978,Q5VWX3,Q5VWY5,Q9NYX4 Hs.148680 DRD1IP|RP11-122K13.5 protein-coding 731618 CAMK1 calcium/calmodulin-dependent protein kinase I Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. 1580863 9395448,7641687,18089838,15680915,15489334,15367659,15251453,14754892,14507913,12935886,12665801,12630910,12539042,12477932,12475216,12237306,12193581,11395482,11114197,11081517,10874031,10571231,10400690,10187789,9822657,9705275,9662074,8384217,7559563,1375933 8536 NM_003656,AC022382,CH471055,EF444963,BC106754,BC106755,BI546222,CR607002,CR616859,CR621015,L41816 NP_003647,EAW63989,EAW63990,EAW63991,EAW63992,EAW63993,ACA05961,AAI06755,AAI06756,AAA99458,Q14012 Hs.434875 GDB:642249 CAMKI|MGC120317|MGC120318 regulator of g-protein signalling 19 protein-coding 1603628 CAMK1D calcium/calmodulin-dependent protein kinase ID This gene encodes a member of the Ca2+/calmodulin-dependent protein kinase 1 subfamily of serine/threonine kinases. The encoded protein may be involved in the regulation of granulocyte function through the chemokine signal transduction pathway. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. 11264466,15840691,15489334,15164054,12935886,12477932,11050006 57118 AL391314,AL512284,AL512783,AL603717,AL731559,CH471072,AB081726,AF286366,AI821714,AK289393,BC035745,BQ059621,BU542765,CR616818,NM_153498,NM_020397 CAI14409,CAI14410,CAH71693,CAH71694,CAH74035,CAH74036,CAI14674,CAI14675,EAW86314,EAW86315,EAW86316,BAC19846,AAG00534,BAF82082,AAH35745,Q5SQQ7,Q8IU85,ABM83390,ABM86602,NP_705718,NP_065130 Hs.659517 CKLiK|CaM-K1|CaMKID protein-coding 732495 CAMK1G calcium/calmodulin-dependent protein kinase IG This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. 16710414,15489334,14702039,12637513,12477932,10645953 57172 NM_020439,NG_007116,AL023754,CH471100,AF428261,AK095713,AK289675,AL049688,AY212935,BC032787,BG715920 NP_065172,CAI19990,CAI19991,EAW93450,EAW93451,EAW93452,AAL28100,BAF82364,CAB41259,AAP29964,AAH32787,Q96NX5,ABM82986,ABM86179 Hs.199068 GDB:11505716 CLICKIII|VWS1|dJ272L16.1 protein-coding 736752 CAMK2A calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha The product of this gene belongs to the Serine/Threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This enzyme is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 15866054,15673434,15621017,15358237,15312654,15140879,15044063,14970204,14722083,12954639,16115892,12951199,12933808,12630910,12486117,12477932,12475968,12435421,12408851,12387894,12223541,12147342,11930170,11889801,11867691,11814622,11751951,11710563,11468283,11459059,11447121,11331285,11306676,11278737,11222640,11160423,11104776,11027280,10874031,10862698,10861222,10851169,10753652,10737616,10629061,10400690,10347170,10318869,10231032,10090741,9832145,9771888,9735171,9724800,9452388,9452387,9115241,9099667,8999860,8980240,8940188,8413226,7929371,7822264,17052756,11264466,18227124,17632540,17627985,17603807,17221287,16820363,16565089,16557530,16436603,16247765,16120608,7706316,7523419,3475713,2394752,2164678,2155236,2114109,1375933,1374067,1314426,1309762,8663317,12871946,17353931 815 NM_171825,NM_015981,AC011372,CH471062,AB023185,AF091486,AF145710,AF145711,AK289776,BC040457,CR612614,CR613519 NP_741960,NP_057065,EAW61741,EAW61742,BAA76812,AAD55815,AAD30558,AAD30559,BAF82465,AAH40457,Q7LDD5,Q8IWE0,Q9UQM7 Hs.143535 GDB:250320 CAMKA|KIAA0968 protein-coding 735326 CAMK2B calcium/calmodulin-dependent protein kinase (CaM kinase) II beta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Eight transcript variants encoding eight distinct isoforms have been identified for this gene. 1580863 9060999,18302935,17419996,16436603,16381901,16247765,16185778,16126727,15792370,15665723,15489336,15489334,15312654,15199064,14722083,14702039,14565989,12853948,12690205,12496285,12477932,12475968,12147342,11889801,11867691,11751951,11710563,11468283,11325525,11306676,11160423,11076863,11042361,10858498,10819240,9724800,9373149,9115241,9110174,8940188,8619474,8125298,7758473,3417668,2842767,17353931 816 NM_172083,NM_172081,NM_172079,NM_172080,NM_172082,NM_172078,NM_001220,AC006454,AC093086,AC106040,CH236960,CH471128,AB073352,AF078803,AF081572,AF081924,NM_172084,AF083419,AF112471,AF112472,AF131776,AF140350,AI190315,AJ252236,AJ252237,AJ252238,AK091991,AK222703,AK290148,BC019070,CR602217,CR602724,CR617994,CR622698,U23460,U50358 NP_742081,NP_742080,NP_742078,NP_742076,NP_742077,NP_742079,NP_742075,NP_001211,AAS07454,AAS02024,EAL23755,EAL23756,EAL23757,EAL23758,EAL23759,EAL23760,EAL23761,EAL23762,EAW61104,EAW61105,EAW61106,EAW61107,EAW61108,EAW61109,AAD42035,AAD42036,AAD42037,AAD42038,AAD03743,AAD03744,AAD42070,CAB65120,CAB65121,CAB65122,BAD96423,BAF82837,AAH19070,AAC99802,AAB16863,Q0JS22,Q13554,Q53H78,Q75KE9,Q75LA8,CAL37627,CAL37670,CAL38439,CAL38692 Hs.351887 GDB:250321 CAM2|CAMK2|CAMKB|MGC29528 calcium/calmodulin-dependent protein kinase ii beta subunit protein-coding 736174 CAMK2D calcium/calmodulin-dependent protein kinase (CaM kinase) II delta The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Four alternatively spliced transcript variants that encode three different isoforms have been characterized to date. Distinct isoforms of this chain have different expression patterns. 1580863 9060999,11264466,18218981,17192257,17179159,17081983,16436603,16185778,16154993,15489334,15345747,14722083,14702039,12477932,12145273,11972023,11889801,10852918,10819240,10525155,10189359,9847074,9692886,9165051,9115241,8404858,17353931 817 NM_172127,NM_172128,NM_001221,NM_172115,AC004056,AC004168,AC093900,AC107386,CH471057,AB209288,AF071569,AI004608,AJ252239,AK025368,AK055642,AL120285,AY987011,BC022558,BC032784,CA416772,U50361,U73738 NP_742125,NP_742126,NP_001212,NP_742113,EAX06295,EAX06296,EAX06297,EAX06298,EAX06299,EAX06300,EAX06301,BAD92525,AAD20442,CAB65123,AAX88806,AAH22558,AAH32784,AAB16866,AAB18327,Q13557,Q4G1A8,Q92991,ABM86181,ABW03692 Hs.144114 GDB:250324 CAMKD|MGC44911 calcium/calmodulin-dependent protein kinase ii, delta protein-coding 1604851 CAMK2G calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Six alternatively spliced variants that encode six different isoforms have been characterized to date. Additional alternative splice variants that encode different isoforms have been described, but their full-length nature has not been determined. 9060999,9240463,8449910,17644368,17553505,17431504,17373700,17192257,17081983,17032905,16436603,16002660,15775983,15322115,15164054,14963018,14722083,14702039,14532276,12808093,12637327,12609872,12554746,12486117,12477932,12032636,11972023,11889801,11839738,11825621,11535587,11398101,11359875,11325525,11290523,11264466,11160423,11108966,11080189,11027280,10860555,10748018,10693762,10625670,10366608,10347170,10212259,9768837,9721757,9677319,9407043,9373149,9355737,9224693,9115241,8798667,8663317,8404858,8380342,8287681,8125298,7877986,7876254,7690989,7557101,7543024,6150037,3118371,2160950,1309762 818 CR613060,CR618627,L07043,L07044,U32472,U32473,U32509,U50359,U50360,U66063,U66064,NM_001222,NM_172171,NM_172170,NM_172173,NM_172169,AC022400,AF415177,AL596247,AL713896,CH471083,AB209474,AK026309,AK094774,AK095576,AK131199,AK225771,AK291704,BC012795,BC021269,BC034044,BC037928,BU165166 AAB61379,AAA75201,AAA75202,AAA75203,AAB16864,AAB16865,AAB80847,AAB80848,O00561,Q13279,Q13280,Q13282,Q13555,Q59FI6,Q5SWX3,Q5SWX4,Q7KYX5,Q8NIA4,Q8WU40,ABM83291,ABM86500,ABM87691,NP_751910,NP_001213,NP_751911,NP_751913,NP_751909,AAM33514,CAI13964,CAI13965,CAI13966,CAI13967,CAI13968,CAI13787,CAI13788,CAI13789,CAI13790,CAI13791,EAW54527,EAW54528,EAW54529,EAW54530,EAW54531,EAW54532,EAW54533,EAW54534,EAW54535,EAW54536,EAW54537,EAW54538,EAW54539,EAW54540,EAW54541,EAW54542,EAW54543,BAD92711,BAF84393,AAH21269,AAH34044 Hs.699281 GDB:138469 CAMK|CAMK-II|CAMKG|FLJ16043|MGC26678 protein-coding 1602218 CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1 12650977,12477932,12175859 55450 NM_018584,AL391357,CH471134,AF116637,AY204901,BC020630,BI820748,DB475389 NP_061054,CAH73469,EAW94923,EAW94924,AAF71060,AAO49802,AAH20630,Q7Z7J9,Q9P1J2 Hs.197922 MGC22256|PRO1489|RP11-401M16.1 protein-coding 732268 CAMK2N2 calcium/calmodulin-dependent protein kinase II inhibitor 2 This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. 12531901,12477932,11444830,9724800 94032 NM_033259,AC061705,AC078797,CH471052,AY037149,BC105077,BC105079 NP_150284,EAW78280,EAW78281,AAK67630,AAI05078,AAI05080,Q96S95 Hs.585003 CAM-KIIN|CAMKIIN protein-coding 731356 CAMK4 calcium/calmodulin-dependent protein kinase IV The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. 734683,1580863,734684 8089075,18053176,17909078,17192257,15841182,15840651,15680915,15665723,15591024,15489334,15143065,14701808,12630910,12477932,12065094,11970865,11572782,11470791,11395482,11274168,10932193,10874031,10681496,10617605,10400690,9822657,9705275,9154845,8702940,8621423,8194751,8107230,7615569,2536634,2011593,1375933,16189514,15902271 734683,734684 814 AC010275,AC010468,AC011422,CH471086,AL833368,BC016695,BC025687,BG721313,CR615443,CR622299,D30742,L17000,L24959,NM_001744 ABM87523,ABM87524,ABM87525,NP_001735,EAW49032,EAW49033,EAW49034,AAH16695,AAH25687,BAA06403,AAA35639,AAA18251,Q16566,ABM83828,ABM84121,ABM84122,ABM87522 Hs.591269 GDB:119747 CaMK-GR|MGC36771 protein-coding 1349409 CAMKK1 calcium/calmodulin-dependent protein kinase kinase 1, alpha The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. 1580863 16741161,15489334,15324660,12935886,12628440,12477932,11574070,11230166,10833263,10560916,10187789,9705275,8621423,7642608,7615569 84254 NM_032294,NM_172206,NM_172207,AC005940,CH471108,AF425232,AF425301,AK128601,AL136576,BC011401,BC031647,BC043487 NP_115670,NP_757343,NP_757344,EAW90474,EAW90475,EAW90476,AAN37386,AAN37387,CAB66511,AAH31647,AAH43487,Q8N5S9,ABM83347,ABM86561 Hs.8417 GDB:9956850 CAMKKA|DKFZp761M0423|MGC34095 protein-coding 737324 CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Seven transcript variants encoding six distinct isoforms have been identified for this gene. Additional splice variants have been described but their full-length nature has not been determined. The identified isoforms exhibit a distinct ability to undergo autophosphorylation and to phosphorylate the downstream kinases. 11395482,17197037,16880506,16673375,16247765,16054096,16054095,15489334,12935886,12477932,12168954,9872452,9822657,9662074,12628440 10645 NM_153500,NM_172216,NM_153499,NM_006549,NM_172226,NM_172215,NM_172214,AC069209,AF321389,AF321401,AF321402,CH471054,U87803,AB018330,AB081336,AB081337,AF091074,AF101264,AF140507,AF287630,AF287631,AF321385,AF321386,AF321387,AF321388,AF425668,AK024748,AK292072,AL834322,BC000318,BC026060,BF972593,CR601834 NP_705720,NP_757365,NP_705719,NP_006540,NP_757380,NP_757364,NP_757363,AAK91830,AAK91829,EAW98247,EAW98248,EAW98249,EAW98250,EAW98251,EAW98252,EAW98253,EAW98254,EAW98255,EAW98256,EAW98257,EAW98258,BAA34507,BAC19840,BAC19841,AAC72943,AAD04566,AAD31507,AAK64600,AAK64601,AAL37215,AAL37216,AAL37217,AAL37218,AAN37388,BAF84761,CAD38990,AAH00318,AAH26060,Q8IZW1,Q96RR4,ABM84336,ABM87784 Hs.297343 GDB:9958084 CAMKK|CAMKKB|KIAA0787|MGC15254 ca+/calmodulin-dependent protein kinase kinase beta (cam-kinase kinase beta) protein-coding 1604302 CAMKV CaM kinase-like vesicle-associated 15489334,15345747,14702039,12477932,11256614,11230166,8283228 79012 NM_024046,AC105935,AC139451,CH471055,AK074856,AK074899,AK075294,AK226073,AL136697,AL834461,BC000497,BC001921,BC005828,BC017363,BC019256,BC033374,BX647074,CR533508,CR608102,CR615725,AL833943 NP_076951,EAW65027,EAW65028,EAW65029,EAW65030,EAW65031,EAW65032,EAW65033,EAW65034,BAC11248,BAC11278,BAC11528,CAB66632,AAH00497,AAH01921,AAH05828,AAH17363,AAH19256,CAG38539,Q8NCB2,CAD38798,ABM82330,ABM87818 Hs.145156 1G5|MGC8407|VACAMKL protein-coding 1347931 CAMLG calcium modulating ligand The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. 1580863 9632697,9311921,8824814,15451437,16243292,7522304,12919676,15668245,12477932,12388711,12031912,11006089 819 NM_001745,CR610994,CR616724,U18242,AC010301,CH471062,AF068179,BC063532,BC130325,BG720084,CR590907,CR593088,CR596597 AAA59420,P49069,NP_001736,EAW62243,EAW62244,AAC23596,AAI30326 Hs.529846 GDB:277883 CAML|MGC163197 protein-coding 1343513 CAMP cathelicidin antimicrobial peptide Cathelicidin antimicrobial protein is an antimicrobial protein found in specific granules of polymorphonuclear leukocytes (PMNs).[supplied by OMIM] 1580863 17400609,17181861,17041145,17015740,17012259,16998135,16926414,16764694,16751768,16750994,16645154,16630942,16497887,16493063,16456005,16236890,16177113,16034119,15953032,15864780,15778507,15778390,15717688,15675959,15661923,15645239,15609314,15591123,15531744,15500911,15489334,15364108,15322010,15222757,8681941,17960624,17943182,17922409,17882905,17873860,17805349,17764778,17709140,17676051,17675463,17627504,17621825,14978112,14561157,12782669,12767238,12759353,12713586,12625579,12612195,12603850,12578451,12477932,12454100,12445197,12375270,12366839,12351523,12244186,12101274,11972628,11796631,11753073,11544322,11389039,11238224,15067080,15004180,11049988,11015447,10858248,10225921,9689116,9182550,8946956,7890387,7624374,7615076,7529412 820 NM_004345,AC104190,CH471055,U48795,X96735,AY162210,AY251531,BC055089,BU074012,CR457083,CR541961,U19970,X89658,Z38026 NP_004336,EAW64854,AAC02634,AAN78318,AAP20054,AAH55089,CAG33364,CAG46759,AAA74084,CAA61805,CAA86115,P49913 Hs.51120 GDB:1327233 CAP18|CRAMP|FALL-39|FALL39|HSD26|LL37 protein-coding 1321992 CAMSAP1 calmodulin regulated spectrin-associated protein 1 737633 14702039,12477932 737633 157922 AL158822,AL353636,AL355574,CH471090,AJ420438,AJ519841,AK025533,AK055790,AL117634,AL834528,AW448941,BC010646,BC012778,BC040549,BC130580,BU949503,NM_015447 NP_056262,CAI14116,EAW88183,EAW88184,EAW88185,EAW88186,CAD58627,CAB56024,CAD39184,AAH10646,AAH12778,AAI30581,Q5JUK4,Q5JUK5,Q5T5Y3,Q9P1D5 Hs.522493 DKFZP434F195|DKFZp434G2311|FLJ31228|MGC163452|PRO2405|RP11-100C15.2|bA100C15.1 protein-coding 1604039 CAMSAP1L1 calmodulin regulated spectrin-associated protein 1-like 1 15897902,15345747,14702039,12477932,12107410,10470851 23271 AL450104,CH471067,AB029001,AF087998,AK026348,AK095640,AK126821,AL110158,BC011385,BC029449,BC045721,BC056910,BC065508,BC125229,BC125230,CA388618,NM_203459,H14341 NP_982284,CAI17076,CAI17077,CAI17078,CAI17079,EAW91320,EAW91321,BAA83030,CAB53664,AAH11385,AAH56910,AAI25230,AAI25231,Q08AD1,Q5T1J9,Q5T1K0,Q5T1K1 Hs.23585 KIAA1078|MGC150680|MGC150681|RP11-93N17.1 protein-coding 1318785 CAMTA1 calmodulin binding transcription activator 1 1580863 18210030,17470457,17222547,16710414,15709179,15138581,12964007,12477932,12168954,11925432,10048485 23261 NM_015215,AL157716,AL359881,AL365194,AL512330,AL590128,AL596210,AL683812,BC116457,BC151835,Z97635,Z98052,Z98884,AA757826,AB020640,AF111804,AW956937,AY037153,AY349360,BC038183,BC051341 NP_056030,AAI16458,AAI51836,Q6V701,Q7Z7P1,Q8WYI3,Q96S92,Q9Y6Y1,CAI21433,BAA74856,AAL39006,AAK67633,AAQ56724,AAH51341 Hs.397705 GDB:9955431 KIAA0833 protein-coding 1322678 CAMTA2 calmodulin binding transcription activator 2 The protein encoded by this gene is a member of the calmodulin-binding transcription activator (CAMTA) protein family. CAMTA family members share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. CAMTA proteins may function as transcription factors that respond to calcium signaling by directly binding to calmodulin. This protein was shown to possess transcription activation activity in a transcription reporter system in yeast. Alternatively spliced transcript variants have been identified, but their full-length natures have not been determined. 1580863 16678093,15489334,15138581,12477932,11925432,10048485 23125 NM_015099,AC004771,AB020716,AL831849,AL833974,BC010050,BC016163,BC032381,BC142606,BC142695,BC167148,BC167149,BC167151,BC167160,BI548947,CR606237 NP_055914,BAA74932,CAD38553,CAD38818,AAH10050,AAH16163,AAH32381,AAI42696,AAI67148,AAI67149,AAI67151,AAI67160,O94983,Q8N5H1 Hs.632242 GDB:9955022 KIAA0909 protein-coding 733696 CAND1 cullin-associated and neddylation-dissociated 1 1559298 12504025,10581176,12609982,16344560,16303743,16036220,15537541,15489334,15208391,14702039,12504026,12477932,11230166,10931946,10048485,8954946 1559298 55832 NM_018448,AC012518,AC078983,CH471054,AB020636,AF157326,AK000976,AK001791,AK027404,AK027783,AK074922,AK096010,AK292456,AL133560,AL136810,AL833880,BC004232,BC026220,BC050341,DB064887,DB098973 NP_060918,EAW97171,EAW97172,BAA74852,AAF67492,BAB55090,BAB55365,BAF85145,CAB63714,CAB66744,CAD38737,AAH04232,AAH26220,AAH50341,Q86VP6 Hs.546407 DKFZp434M1414|FLJ10114|FLJ10929|FLJ38691|FLJ90441|KIAA0829|TIP120|TIP120A protein-coding 733192 CAND2 cullin-associated and neddylation-dissociated 2 (putative) 12692129,16641997,12207886,10441524,9734811 23066 NM_012298,AC034198,CH471055,AB014567,BE256308,BX648800,DB471722,DR001490 NP_036430,EAW64143,BAA31642,O75155 Hs.343664 KIAA0667|TIP120B|Tp120b tbp-interacting protein tip120b protein-coding 1346126 CANDN1 candidiasis, nail 1 (with ICAM1 deficiency) 12205111,12774035 338434 1348972 CANT1 calcium activated nucleotidase 1 631908,1580863 12761501,18067325,16303743,15489334,15248776,15006348,14702039,12600208,12477932,12234496,12167635 631908 124583 NM_138793,AC073624,AC100788,CH471099,CQ783584,AB097006,AB097033,AF328554,AJ312208,AK026161,AK074687,BC005104,BC017655,BC065038,BC118563,CR601688,CR602471 NP_620148,EAW89548,EAW89549,EAW89550,EAW89551,EAW89552,EAW89553,EAW89554,EAW89555,CAF86751,BAC77359,BAC77386,AAM94564,CAC85468,BAC11139,AAH05104,AAH17655,AAH65038,Q8WVQ1 Hs.8859 SCAN-1|SHAPY protein-coding 737068 CANX calnexin This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. 1580863 12119418,12052826,11851433,11756446,11751874,11583625,11566319,11506858,11350933,10636893,10601334,10461883,10436013,10364201,9717723,9642293,9545232,9528938,9525969,9312001,9295027,9110174,9050874,9024687,8910335,8662691,8621641,8619474,8551575,8549676,8486646,8278814,8163531,1326756,1286667,10873786,11054427,8790377,8550632,16189514,12006653,11765911,7513695,15105504,15923638,15557823,15537650,15489334,15261665,15236594,15231748,15161937,14980518,14732708,14732231,14498830,12805210,16002696,12643545,12610306,12610305,12562843,12507291,12477932,12383251,12359150,12239218,12222674,12208510,8136357,15467828,8055875,14966132,18367207,17728248,17395585,17203246,17170088,17081983,17081065,16938437,16858427,16565220,16061483 821 NM_001746,NM_001024649,AC113426,CH471165,AF070646,AJ271880,AK129990,AK130080,BC003552,BC042843,BC050534,CR609178,CR613697,L10284,L18887,M94859,M98452 ABM84720,NP_001737,NP_001019820,EAW53802,EAW53803,EAW53804,EAW53805,CAB72137,BAC85269,AAH03552,AAH42843,AAA36125,AAA21013,AAA21749,AAA35696,P27824,Q6ZP56,ABM92244 Hs.699155 GDB:141878 CNX|FLJ26570|IP90|P90 protein-coding 1349457 CAP1 CAP, adenylate cyclase-associated protein 1 (yeast) The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants have been identified. 1580863 7962207,1406678,17900295,16807684,16710414,16341674,16289162,15489334,15311924,14702039,12665801,12477932,11950878,9373149,8761950,8125298,16189514 10487 NM_001105530,AL512599,CH471059,AK096193,AK222513,NM_006367,BC013963,BC020367,BC095440,BI460362,BM772471,BP391532,BT007152,CR457409,CR611821,L12168,M98474 NP_006358,NP_001099000,CAI11011,CAI11012,CAI11013,CAI11014,CAI11015,CAI11016,CAI11017,CAI11018,CAI11019,CAI11020,CAI11021,CAI11022,EAX07239,EAX07240,EAX07241,EAX07242,EAX07243,EAX07244,EAX07245,BAD96233,AAH13963,AAH95440,AAP35816,CAG33690,AAA35507,AAA35648,Q01518,Q5T0R1,Q5T0R2,Q5T0R3,Q5T0R4,Q5T0R5,Q5T0R6,Q5T0R7,Q5T0R8,Q5T0R9,Q5T0S2,ABM81586,ABM84766 Hs.370581,Hs.707409 GDB:136458 CAP|CAP1-PEN protein-coding 733378 CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. 1580863 7962207,17000669,15489334,15231748,12477932,8761950,16189514 10486 NM_006366,AL034372,AL138824,CH471087,AI928000,AL832154,BC008481,BF791244,BI667914,CR457022,CR609661,U02390 NP_006357,CAC26824,CAI12250,EAW55380,CAI46134,AAH08481,CAG33303,AAA20587,P40123,Q5JPJ8,Q9BYW9,ABM92205,ABM84679 Hs.132902 GDB:9957118 adenylyl cyclase-associated protein 2 protein-coding 1346127 CAP2P1 CAP, adenylate cyclase-associated protein, 2 (yeast) pseudogene 1 353163 NG_002772,AL157736,AL357093 pseudo 1323330 CAPG capping protein (actin filament), gelsolin-like This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed, but have not been fully described. 1580863 1322908,18059028,17081065,16767159,15489334,15454578,12754261,12637565,12477932,11694586,9373149,9160743,8125298,7851883,7814409 822 NM_001747,AC062037,CH471053,U12026,AK130130,AK225374,AK225378,BC000728,BC014549,BU626913,CR603008,CR604518,CR607458,CR613753,CR613943,CR615009,M94345 NP_001738,AAY24128,EAW99517,EAW99518,EAW99519,EAW99520,AAA92670,AAH00728,AAH14549,AAA59570,P40121,Q53SA7,ABM83089,ABM86283 Hs.516155 GDB:134818 AFCP|MCP protein-coding 736980 CAPN1 calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. 1580863,1626249 15935327,8702541,18165173,18085799,18071073,18070881,18032503,17977825,17908236,17765980,17716656,17690304,17359359,17195093,17157313,17121855,16908521,16740134,16697376,16598790,16361262,16150694,16107503,15975558,15950654,15948206,15809056,15663601,15590628,15489334,15488707,15471877,15302874,15131115,14980313,14702039,14612448,12843408,12684003,12591934,12477932,12432277,12393869,12358155,12200134,12121992,12000759,11861304,11516996,10846184,10830966,10677567,10521480,9989581,9852298,9110986,8993318,8938448,8695851,8561910,8253784,7592818,7499244,7493986,3038169,3017764,2844821,2400579,2209092,1656060,8954122,16189514 1626249 823 NM_005186,AP003068,AY796340,CH471076,AK022319,AK025380,AK097277,AY550975,BC008751,BC015091,BC017200,BC075862,X04366 NP_005177,AAV41878,EAW74366,EAW74367,EAW74368,EAW74369,EAW74370,EAW74371,AAT52221,AAH08751,AAH17200,AAH75862,CAA27881,P07384,Q2TTR0,Q6DHV4,ABM83831,ABM87599 Hs.502842 GDB:119749 CANP|CANP1|CANPL1|muCANP|muCL calpain 1 protein-coding 732443 CAPN10 calpain 10 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM) and located within the NIDDM1 region. Multiple alternative transcript variants encoding different isoforms have been described for this gene. 737693,1625047,734686,1625046,1625049,1625050,1580863,1625063 12974673,17572128,15044459,15471947,18487065,18248681,18241614,18167206,17855447,14642065,14602801,14574648,14500039,12905623,12519860,12477932,12453914,12161543,12145185,12137596,12133483,12107745,12107735,12107250,12083814,12050223,12046551,11980626,11978669,11978665,11935160,11932299,11891618,11891023,11872216,17601994,17570749,17560157,17559371,17511963,17454172,17382509,17106059,16873988,16857402,16837224,16752174,16721485,16691381,16546286,16456802,16427731,16377260,16344560,16333311,16306378,16186407,16028216,15926113,15862281,15860244,15793266,15696376,15652721,15641690,15489334,15240652,15172858,14974344,14759258,14749261,14741193,14730479,14702039,14646187,11836299,11774208,11756349,11756346,11736815,11704924,11522685,11481585,11375982,11347906,11018080,11017071,9396712 737693,1625047,734686,1625046,1625049,1625063 11132 NM_023085,NM_021251,NM_023089,AC124862,AF158748,CH471063,AB058748,AF089088,AF089090,AF089091,AF089092,AF089093,AF089094,AF089095,NM_023083,AF089096,AK027330,AK074807,AK128552,BC004260,BC007553,BC107088,BI909439,DA623373,DB224752 NP_075571,NP_075573,NP_067074,NP_075577,AAX88944,EAW71197,EAW71199,EAW71204,EAW71205,EAW71206,BAB47474,AAG17966,AAG17968,AAG17969,AAG17970,AAG17971,AAG17972,AAG17973,AAG17974,BAC11220,AAH04260,AAH07553,Q4ZFV1,Q9HC96,ABM84445,ABM87502 Hs.112218 GDB:9864791 protein-coding 1342957 CAPN11 calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. Calpain 11 protein represents a distinct calpain subfamily. While its exact function is not known, it may have a protease activity and calcium-binding ability. 1580863 10409436,15489334,12477932,10340998,8070630,2479145 11131 NM_007058,AL365192,CH471081,AJ242832,BC033733,BG721593 NP_008989,CAI20532,EAX04250,EAX04251,EAX04252,EAX04253,CAB52137,AAH33733,Q5T3G1,Q9UMQ6 Hs.225953 GDB:9956885 calpain11 protein-coding 1316482 CAPN12 calpain 12 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN12 belongs to the calpain large subunit family.[supplied by OMIM] 14702039,12477932,10964513 147968 NM_144691,NG_007082,AC022144,CH471126,AK125713,AK127398,BC014027,BC040022,BE872274 NP_653292,EAW56813,EAW56814,EAW56815,EAW56816,BAC86959,Q6ZSI9,AAI40398,AAI53094 Hs.702166 GDB:11510829 MGC20576 protein-coding 1349624 CAPN13 calpain 13 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN13 belongs to the calpain large subunit family.[supplied by OMIM] 15815621,15489334,14702039,12477932,11675017,10964513,10737800 92291 NM_144575,AC092569,CH471053,AK026692,AK027176,AK074418,AK290298,BC117345,BC117347,BM127691,BX476842,BX640793,BX647678 NP_653176,AAX82015,EAX00491,EAX00492,EAX00493,BAB85075,BAF82987,AAI17346,AAI17348,CAE45878,Q6MZZ7 Hs.660911 FLJ23523 protein-coding 1352333 CAPN14 calpain 14 11551709,11675017 440854 XM_496548,AC015980 732800 CAPN2 calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. 1580863,1626249 9407132,9337844,9213221,8900201,8561910,9562261,3038169,2852952,2539381,2209092,1527057,1067155,8954122,10639123,18032503,17650508,17596297,17359359,17261541,17192410,16816119,16652152,16598790,16530191,16436382,16361262,16344560,16310784,15950654,15817486,15590481,15489334,15471877,15302874,14980313,14976200,14702039,14688278,12783889,12665801,12477932,12150984,12130691,12070670,12000759,11853546,11673052,11517928,11387205,11023826,10944468,10830966,10671558,10666632 1626249 824 NM_001748,AC096542,AC099065,AY835586,CH471100,J04700,AB209855,AF261089,AI089162,AK023851,AK056838,AK097247,AK124751,BC007686,BC011828,BC021303,DA448245,M23254 NP_001739,AAV80421,EAW93249,EAW93250,EAW93251,AAA52760,BAD93092,AAF99682,BAC85936,AAH07686,AAH11828,AAH21303,AAA35645,P17655,Q59EF6,Q6ZVC6,ABM84238,ABM84546,ABW03605 Hs.350899 GDB:119750 CANP2|CANPL2|CANPml|FLJ39928|mCANP calpain 2 2289325 BW86_H protein-coding 731876 CAPN3 calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. 69795,734687,1600769,1600777,1580863 15351423,15324660,15221789,15073171,14981715,14702039,14675785,14583192,14506720,12882647,12482600,12477932,12461690,12075569,11485017,10987085,10330340,10229226,10068445,9873017,9771675,9763216,9762961,9655129,9396712,9266733,9246005,9185618,9150160,8624690,8537379,2555341,2209092,9642272,7720071,18299526,18258189,17979987,17702496,17596655,17585039,17318636,17157502,16971480,16934440,16627476,16533054,16189514,16141003,16107503,15827562,15725583,15689361,15489334,8954122 69795,734687,1600769,1600777 825 NM_212464,NM_212465,NM_000070,NM_024344,NM_173087,NM_173088,NM_173090,NM_173089,AC012651,AF209502,AY902237,AB117940,AB117941,AB117942,AF127764,AF127765,NM_212467,AF147441,AK027249,AK097401,BC003169,BC003521,BC004883,BC007810,BC067126,BC100782,BC100783,BC100784,BC107791,BC128605,BC146649,BC146672,BT007322,X85030 NP_997632,NP_997629,NP_997630,NP_000061,NP_077320,NP_775110,NP_775111,NP_775113,NP_775112,AAL40183,AAW69391,BAD16649,BAD16650,BAD16651,AAD28253,AAD28254,AAH03169,AAH03521,AAH04883,AAH07810,AAH67126,AAI00783,AAI00784,AAI00785,AAI07792,AAI28606,AAI46650,AAI46673,AAP35986,CAA59403,P20807,Q496N2,Q6ZUN1,Q762C6,Q762C7,Q762C8,Q7L4R0,Q9BQC8 Hs.143261 GDB:119751 CANP3|CANPL3|LGMD2|LGMD2A|MGC10767|MGC11121|MGC14344|MGC4403|nCL-1|p94 calpain 3 protein-coding 731758 CAPN5 calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. 635266,1580863 11168679,9503024,9367857,8889548,11517927,9339374,17227582,16396936,15489334,15464980,14702039,12477932 635266 726 NM_004055,AP000752,CH471076,AB209087,AK092880,AK094150,AK128124,AK129588,BC018123,BM679546,U94346,Y10552 NP_004046,EAW75014,EAW75015,EAW75016,BAD92324,BAC87282,BAC85188,AAH18123,AAC51869,CAA71584,O15484,Q59GM2,Q6ZPC4,Q6ZRM8,ABM82528,ABW03388 Hs.248153 GDB:9478352 FLJ46245|HTRA3|nCL-3 protein-coding 734276 CAPN6 calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. It also lacks critical active site residues and thus is suggested to be proteolytically inactive. 635266,1580863 9503024,15772651,15489334,12477932,10340998,9339374,8163008 635266 827 NM_014289,A98730,AL031117,AY800242,CH471120,AF029232,AJ000388,BC000730,CR603979,CR607180,L32067 NP_055104,CAB70568,CAA19965,AAV41896,EAX02650,EAX02651,AAB86605,CAA04051,AAH00730,Q9Y6Q1,ABM82777,ABM85967 Hs.496593 GDB:9478353 CANPX|CAPNX|CalpM|DJ914P14.1 protein-coding 1312532 CAPN7 calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. 1580863 14702039,12477932,11342116,10051333,8889548,8163008 23473 NM_014296,AC087590,CH471055,AB028639,AK093742,BC056202,BI464220,BM974327,BX502535 NP_055111,EAW64223,EAW64224,BAA78730,AAH56202,Q7Z479,Q9Y6W3 Hs.631920 GDB:9956607 CALPAIN7|FLJ36423|PALBH protein-coding 736537 CAPN8 calpain 8 632482 17646163,16341674,11523006,11516996,8889549,7690035 632482 388743 XM_001128157,XM_938885,XM_001715299,AC099065,CR628412,CR848842,AA025386,AA026030,AA043093,BM765723,BM825948,BM839499 XP_001128157,XP_943978,XP_001715351,CAM45846 Hs.291487,Hs.670199 GDB:9864789 nCL-2 protein-coding 731611 CAPN9 calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. 724622,734688,1580863 9524069,17157313,12477932,11516996,10835488,9917325,8561910 724622,734688 10753 NM_006615,NM_016452,AL512328,AL591291,AY874864,CH471098,AB038463,AF022799,BC027993 NP_006606,NP_057536,AAW49735,EAW69920,EAW69921,EAW69922,BAA92137,AAB80762,AAH27993,O14815,Q5SYF1,Q5SYF2,Q6PIV8 Hs.498021 GDB:9864790 GC36|nCL-4 calpain 9 (ncl-4) 2289325 BW86_H protein-coding 735486 CAPNS1 calpain, small subunit 1 Calpains are a ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. Calpain families have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. Calpain I and II are heterodimeric with distinct large subunits associated with common small subunits, all of which are encoded by different genes. This gene encodes a small subunit common to both calpain I and II and is associated with myotonic dystrophy. Two transcript variants encoding the same protein have been identified for this gene. 1580863 8702541,10639123,16169070,15611136,15489334,15057824,12684003,12591934,12477932,12358155,12121983,11673052,11517928,11516996,10737800,10666632,10661889,9326644,9110174,8619474,8561910,3024120,3016651,2209092,1656060,16189514 826 NM_001749,NM_001003962,AC002984,AD001527,AY789642,M31501,M31511,X64180,X64190,AK289606,AY007141,BC000592,BC007779,BC011903,BC017308,BC018931,BC021933,BC023643,BC064998,BF822052,BQ898664,CR590756,CR591634,CR594230,CR596086,CR596279,CR599368,CR600941,CR601153,CR607029,CR612316,CR613280,CR615251,CR615374,CR616510,CR617252,CR624490,CR625540,CR625596,X04106,BT009775 NP_001740,NP_001003962,AAB81546,AAB51183,AAV40829,AAA35646,BAF82295,AAH00592,AAH07779,AAH11903,AAH17308,AAH18931,AAH21933,AAH23643,AAH64998,AAP88777,CAA27726,P04632 Hs.515371 GDB:119752 30K|CALPAIN4|CANP|CANPS|CAPN4|CDPS protein-coding 1345503 CAPNS2 calpain, small subunit 2 1580863 15590481,15489334,12477932,11853546 84290 NM_032330,AC007336,CH471092,AY052551,BC005397,BC006000 NP_115706,EAW82830,AAL02241,AAH05397,AAH06000,Q96L46 Hs.660027 MGC12536|MGC14804 protein-coding 1313896 CAPRIN1 cell cycle associated protein 1 1580863 7657653,17353931,17210633,16177067,15471883,14764709,12477932,11060040,8786113,12183049,16189514 4076 NM_005898,NM_203364,AC090469,CH471064,X89572,AF086078,AK127972,BC001731,BC015700,BC026302,BK001101,BK001104,CR604520,CR621284,CR625420,Z48042 NP_005889,NP_976240,EAW68176,EAW68177,EAW68178,EAW68179,EAW68180,CAA61751,AAH01731,DAA01118,DAA01121,CAA88096,Q14444,ABW03810,ABW03918,ABW03502 Hs.471818 GDB:700720 GPIAP1|GPIP137|M11S1|caprin-1|p137GPI membrane component, chromosome 11, surface marker 1 protein-coding 1604605 CAPRIN2 caprin family member 2 14593112,16094384,14764709,14702039,12477932,11347906 65981 NM_023925,NM_001002259,AC010198,CH471094,AB058776,AF326778,AF525416,AK021453,AK024247,AK026222,NM_032156,AL834212,AY074490,AY074491,BC007520,BC025420,BC066295,BC111007,BC117672,BC117673,BK001102,BK001103,BQ010043,BX537569,BX538080 NP_115532,NP_076414,NP_001002259,EAW96608,EAW96609,EAW96610,EAW96611,EAW96612,EAW96613,EAW96614,EAW96615,EAW96616,BAB47502,AAK83153,AAP80792,BAB13830,BAB15398,AAL71549,AAL71550,AAH66295,AAI11008,AAI17673,AAI17674,DAA01119,DAA01120,CAD97786,CAD98004,Q149P6,Q6IMN6,Q7Z3P8,Q7Z5L1,Q96JF4 Hs.234355 C1QDC1|EEG-1|EEG1|FLJ11391|FLJ22569|KIAA1873|MGC102894|MGC134847|MGC134848|caprin-2 protein-coding 1348480 CAPS calcyphosine This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. 1580863 2540953,15489334,15057824,12477932,9373149,9224948,9125191,8125298,2265558 828 NM_004058,NM_080590,AC004602,AC104532,CH471139,CS300742,CS300743,AK090469,AK226026,BC011961,BC019065,BC080599,BC101513,BC104766,BG768134,CR601253,CR623055,X97966 NP_004049,NP_542157,AAC14484,EAW69125,EAW69126,EAW69127,EAW69128,CAK32406,CAK32407,BAC03450,AAH11961,AAH80599,AAI01514,AAI04767,CAA66609,Q13938,Q8NF12,Q96ET4 Hs.584744 GDB:125209 CAPS1|MGC126562 protein-coding 1320373 CAPS2 calcyphosine 2 Calcyphosine-2 is a calcium-binding protein with 2 EF-hand motifs (Wang et al., 2002 [PubMed 11846421]).[supplied by OMIM] 15489334,14702039,14530279,12477932,11846421,1184642 84698 NM_032606,AC091534,AC092552,AC121761,CH471054,AF251056,AF351611,AK091839,AK092274,BC033860,BC056672,BC131724 NP_115995,EAW97296,EAW97297,EAW97298,EAW97299,EAW97300,AAK34946,AAN76511,BAC03759,BAC03845,AAH56672,AAI31725,Q9BXY5 Hs.407154 GDB:11510535 FLJ34520|UG0636c06 calcyphosphine 2 protein-coding 1601932 CAPSL calcyphosine-like 15489334,12477932,8889549,8889548 133690 NM_144647,NM_001042625,AC112204,CH471119,BC017586,BM975803,CD687387,W25222 NP_653248,NP_001036090,EAW55926,AAH17586,Q8WWF8 Hs.55150 MGC26610 protein-coding 1314786 CAPZA1 capping protein (actin filament) muscle Z-line, alpha 1 CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. 1580863 7665558,17353931,16130169,9331217,16987810,16710414,16344560,15489334,12690097,12488317,12480931,12477932,12470955,9803314,9373149,9354614,9119363,8639502,8125298,1602151 829 NM_006135,AL603832,AL929470,CH471122,AK223226,AK289654,BC000144,BC034391,BT019364,BX648738,CR407657,CR541819,DB233456,U56637 NP_006126,CAI14054,EAW56525,EAW56526,EAW56527,BAD96946,BAF82343,AAH00144,AAV38171,CAG28585,CAG46618,AAC00533,P52907,ABM81680,ABM84845 Hs.514934 GDB:344723 CAPPA1|CAPZ|CAZ1 protein-coding 1352276 CAPZA1P capping protein (actin filament) muscle Z-line, alpha 1 pseudogene 11499681 53338 NG_001277,AF284769,AL024493 GDB:10796283 pseudo 1350794 CAPZA2 capping protein (actin filament) muscle Z-line, alpha 2 The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. 1580863 17353931,9331217,17567994,15489334,12853948,12690205,12665801,12477932,12029070,9373149,8125298,7665558,1602151 830 CR614626,CR615735,DQ655956,U03269,U03851,BC005338,BC015963,BI553815,BT006735,BX386541,CR590988,CR596187,CR601522,CR602265,CR603366,CR607571,CR613439,AC002543,CH236947,CH471070,AK222989,NM_006136,AK223004 AAA88848,AAC00534,P47755,Q53GC7,Q53GE2,BAD96724,AAH05338,AAP35381,NP_006127,AAC60382,EAL24358,EAW83512,EAW83513,EAW83514,EAW83515,BAD96709 Hs.446123 GDB:344724 CAPPA2|CAPZ protein-coding 1353508 CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. 1580863 15489334,14702039,12477932,12029070,10524250,7957958 93661 NM_033328,AC087242,CH471094,AB053259,AK058174,BC016745 NP_201585,EAW96391,BAB61901,BAB71703,AAH16745,Q96KX2 Hs.131288 CAPPA3|Gsg3 protein-coding 1347618 CAPZB capping protein (actin filament) muscle Z-line, beta CAPZB is a member of the F-actin capping protein family. This gene encodes the beta subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. 1580863 7665558,17353931,16130169,16710414,16678097,16169070,15489334,12665801,12477932,14743216 832 AL035413,AL359199,AL445163,CH471134,AK125085,BC008095,BC012305,BC024601,BC107752,BC109241,BC109242,BE870234,BQ009850,BT019470,BT019471,CR590504,CR591278,CR592519,CR594971,CR595642,CR596107,CR596559,CR600755,CR600840,CR603606,CR603675,CR603731,CR606068,CR608661,CR608903,CR609341,CR610963,CR614610,CR615786,CR615877,CR617401,CR619829,CR620413,CR620796,CR621111,CR621825,CR622138,CR622250,CR622513,U03271,NM_004930 NP_004921,CAI22224,CAI22225,CAI22227,CAI22228,CAI22230,CAI22231,EAW94888,EAW94889,EAW94890,EAW94891,AAH08095,AAH12305,AAH24601,AAI07753,AAI09242,AAI09243,AAV38277,AAV38278,AAA87395,P47756,Q32Q68,Q5TG66,Q5TG69,Q5VVZ5,Q5VVZ6,Q5VVZ7,Q5VVZ8,Q5VVZ9,Q969F3 Hs.432760 GDB:344725 CAPB|CAPPB|CAPZ|MGC104401|MGC129749|MGC129750 protein-coding 1312685 CARD10 caspase recruitment domain family, member 10 The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM] 1580863 11259443,15125833,17724468,17101977,15489334,15184390,14702039,12477932,11387339,11356195,10591208 29775 NM_014550,AL022315,AL049851,CH471095,AF086324,AK057334,AK074906,AY028896,AY032928,BC032058,BC113659,BC117403 NP_055365,CAI19345,EAW60163,BAC11282,AAK26165,AAK54454,AAI13660,AAI17404,Q17RA1,Q8NC81,Q9BWT7 Hs.57973 GDB:11510537 BIMP1|CARMA3|MGC142219 protein-coding 1319685 CARD11 caspase recruitment domain family, member 11 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. 1580863 11278692,16809782,12154360,15122200,15125833,15541657,17468049,18323416,18231929,17428801,17287217,16520020,16508008,16356856,16356855,16301747,15802604,15184390,14739370,14702039,14673152,12690205,12477932,12356734,12154356,11356195,11259443,9847074,8889549 84433 NM_032415,AC004906,AC024028,AC092689,CH236953,CH471144,AA194010,AF322641,AF352576,AK074049,AK097139,BC111719 NP_115791,AAQ96893,EAL23962,EAW87276,EAW87277,EAW87278,EAW87279,AAG53402,AAL34460,BAB84875,BAC04960,AAI11720,Q8N889,Q9BXL7 Hs.648101,Hs.665701 GDB:11500175 BIMP3|CARMA1|MGC133069 protein-coding 1350189 CARD14 caspase recruitment domain family, member 14 The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. Two alternatively spliced variants of this gene encoding distinct isoforms have been reported. 1580863 11278692,16189514,14702039,12477932,11356195,11259443,15489334 79092 AF322642,AK002138,AK054723,AK091123,AY032927,BC001326,BC018142,NM_024110,NM_052819,AC087741,CH471099 EAW89588,EAW89589,AAG53403,AAK54453,AAH01326,AAH18142,Q9BXL6,NP_077015,NP_438170,EAW89586,EAW89587 Hs.675480,Hs.696253 GDB:11500209 BIMP2|CARMA2 protein-coding 1314062 CARD6 caspase recruitment domain family, member 6 This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. 1580863 17081983,16582588,16418290,12775719,12477932 84674 NM_032587,AC008810,AC026732,CH471119,AB209844,AF356193,AY196783,BC093825 NP_115976,EAW56006,BAD93081,AAK32718,AAP40637,AAH93825,Q52LR2,Q59EG7,Q6XZE5,Q9BX69 Hs.200242 GDB:11505718 CINCIN1 protein-coding 1351599 CARD8 caspase recruitment domain family, member 8 The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. 1580863 15030775,11551959,18311798,18263599,18092344,17878386,17595233,17484912,17030188,16796750,15489334,12477932,12067710,11956601,11821383,11408476,10231032,12775719 22900 NM_014959,AC011466,CH471177,AB023172,AF143869,AF322184,AF331519,AF405558,AF511652,AK311077,AK311079,AY026322,BC034564,BC041697,BC045539,BC046136,BC056891,BX641091,BX648568,CA448628,CR625326 NP_055774,EAW52319,EAW52320,EAW52321,EAW52322,EAW52323,EAW52324,EAW52325,BAA76799,AAG50014,AAK01126,AAL02427,AAM46959,AAK08982,AAH34564,AAH45539,AAH56891,CAE46043,Q4G0N6,Q6MZI8,Q9Y2G2 Hs.446146,Hs.655940 CARDINAL|DACAR|DKFZp779L0366|FLJ18119|FLJ18121|KIAA0955|MGC57162|NDPP1|TUCAN protein-coding 732385 CARD9 caspase recruitment domain family, member 9 The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. 1299399,1580863 11053425,17187069,18439550,17936701,15489334,15164053,14702039,12477932,11259443,16189514 1299399 64170 NM_052813,AL592301,CH471090,AF311287,AK024001,AK127481,AK292081,BC008877,BC035805,BI524042,CR603312 NP_434700,CAI13931,CAI13932,EAW88219,EAW88220,EAW88221,EAW88222,EAW88223,EAW88224,AAG28790,BAB14766,BAF84770,AAH08877,Q5SXM4,Q5SXM5,Q6NSJ4,Q9H257,ABM84452,ABW03582 Hs.694071 GDB:11508849 hCARD9 caspase recruitment domain protein 9 protein-coding 733909 CARHSP1 calcium regulated heat stable protein 1, 24kDa 1299427 12801884,9712905,17081983,16964243,16083285,15489334,15302935,14702039,12477932,12107410,11842224 1299427 23589 NM_014316,NM_001042476,AC022167,CH471112,AF115345,AK093698,BC000782,BC001333,BC003366,BC108283,CA396216,CR590003 NP_055131,NP_001035941,EAW85196,EAW85197,EAW85198,EAW85199,AAD25021,AAH03366,AAI08284,Q9Y2V2 Hs.632184 GDB:11508328 CRHSP-24|CSDC1|MGC111446 calcium regulated heat stable protein 1 protein-coding 1314176 CARM1 coactivator-associated arginine methyltransferase 1 Protein arginine N-methyltransferases, such as CARM1, catalyze the transfer of a methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins to form methylated arginine derivatives and S-adenosyl-L-homocysteine. Protein arginine methylation has been implicated in signal transduction, metabolism of nascent pre-RNA, and transcriptional activation (Frankel et al., 2002 [PubMed 11724789]).[supplied by OMIM] 1359044,2293206 15221992,18172323,17882262,17640894,17218272,17043108,17005681,16923966,16705743,16497732,16330542,16254053,15944154,15731352,15616592,15489334,15471871,15096520,14500758,12498683,12477932,12374746,12237300,11850402,11751582,11724789,10381882,9110174,8619474,11050077,15186775,15383283 1359044,2293206 10498 AC007565,AC011442,CH471106,AF055027,AL833242,BC036886,BC046240,BC070496,BU176535,CR604934,NM_199141 NP_954592,EAW84155,EAW84156,AAH46240,Q86X55,AAI56436 Hs.371416 GDB:9957130 PRMT4 protein-coding 1344005 CARM1L coactivator associated arginine methyltransferase 1-like 256280 AL359077 Q5SZY8 protein-coding 1321833 CARS cysteinyl-tRNA synthetase This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. 1580863 7987009,17303165,16344560,15592455,15489334,14702039,12477932,12112524,11347887,10908348,9373149,8468064,8125298,16189514 833 NM_139273,NM_001751,NM_001014438,NM_001014437,AC108448,AC131971,CH471158,AB208814,AF288206,AF288207,AK096313,AK125503,AK126135,AK131221,AK222614,AK289432,AU133264,BC002880,BT009913,BX647906,CR598668,L06845 NP_644802,NP_001742,NP_001014438,NP_001014437,EAX02536,EAX02537,EAX02538,EAX02539,EAX02540,EAX02541,BAD92051,AAG00578,AAG00579,BAC86184,BAD18407,BAD96334,BAF82121,AAH02880,AAP88915,CAI46108,AAA73901,P49589,Q53HG6,Q59HE5,Q5HYE4,Q6ZNG8,Q6ZUN6,ABM81699 Hs.274873 GDB:136267 CARS1|CYSRS|MGC:11246 protein-coding 1606504 CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative) 15779907,15489334,15057823,14702039,12477932 79587 NM_024537,AL139385,AL157820,CH471085,AB062436,AK022180,AK091992,AK092947,BC007220,BX648882,BX649191,CR593997,CR594413,CR600317,CR605547,CR606350,CR613047,CR614128,CR615939,CR623160,CR626682 NP_078813,CAI17004,CAI16971,EAX09126,BAB93499,BAB13978,AAH07220,CAH10378,CAE46210,Q6AW83,Q6MZE5,Q9HA77 Hs.508725 DKFZp667A2315|DKFZp686G08243|FLJ12118 protein-coding 1605714 CARTPT CART prepropeptide CART appears to have roles in reward, feeding, and stress, and it has the functional properties of an endogenous psychostimulant (Kuhar et al., 2002 [PubMed 12147208]).[supplied by OMIM] 1625192 15908120,11711504,15680948,11478874,16614075,8647455,17631364,17525122,17105939,17008116,16309793,16210370,16146347,16102267,15823203,15597110,15489334,15340161,15326462,15234472,12654232,12477932,12147208,11857741,11791158,11522684,10905499,10235641,9590691 1625192 9607 NM_004291,AC143336,CH471084,U20325,AI417979,BC029882,CR542216,U16826 NP_004282,EAW95694,AAB08011,AAH29882,CAG47012,AAB08010,Q16568,Q6FG92 Hs.1707 CART protein-coding 1322554 CASC1 cancer susceptibility candidate 1 737633 18299280,16410263,14702039,14583591,12477932,8889548 737633 55259 BC117283,BM979714,NM_001082973,NM_018272,AC023510,AC092794,CH471094,AK001783,AK093102,AY423543,BC028415,BC031047,BC047415,BC057795,BC117281,NM_001082972 AAI17284,Q6TDU7,NP_001076441,NP_001076442,NP_060742,EAW96507,EAW96508,EAW96509,BAA91908,AAQ93499,AAH28415,AAH47415,AAH57795,AAI17282 Hs.407771 FLJ10921|LAS1 protein-coding 1349507 CASC2 cancer susceptibility candidate 2 255082 Q8IU53 NM_201377,AJ535620 1353876 CASC3 cancer susceptibility candidate 3 The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. 1580863 12080473,17652158,17081983,16931718,16495234,16344560,16314458,16170325,15489334,15166247,14973490,14702039,12843282,12477932,11980659,7490069,15680326 22794 AK096126,AK292425,BC030008,BC044656,BC050526,CA427444,DB082647,X80199,NM_007359,AC068669,CH471152 EAW60643,EAW60644,BAF85114,AAH44656,AAH50526,CAC27699,O15234,NP_031385 Hs.705465 BTZ|MLN51 protein-coding 1603284 CASC4 cancer susceptibility candidate 4 The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Further characterization of the product of this gene may yield insight into the fundamental biology and pathogenetic effects of HER-2/neu overexpression in human breast and ovarian cancer cells. Alternatively spliced variants encoding different isoforms have been identified for this gene. 14702039,12975309,12845212,12764679,12477932,10497265 113201 NM_138423,NM_177974,AC025043,AC090519,CH471082,AF103804,AK022565,AK095068,AK098265,AK291026,AL832333,AL832840,AY358086,BC012124,BC041786,BC063480,BG327802 NP_612432,NP_816929,EAW77257,EAW77258,EAW77259,EAW77260,EAW77261,EAW77262,EAW77263,EAW77264,BAC05272,BAF83715,AAQ88453,AAH12124,AAH63480,Q6P4E1,Q8N7K6 Hs.512867 DKFZp459F1927|H63|MGC74708 protein-coding 1603976 CASC5 cancer susceptibility candidate 5 15502821,15579588,10980622,17981135,17081983,16565220,12618768,12618766,12477932,12087463,10997877,10780384,8700511,15371340 57082 NM_170589,NM_144508,AC022405,CH471125,AB022190,AB046790,AF173994,AF248041,AF461041,BC014306,BC029373,BC043597,BQ776141,U52052 NP_733468,NP_653091,EAW92429,EAW92430,BAC05691,BAB13396,AAM45143,AAF97513,AAL67803,AAH29373,Q05C46,Q8NG31 Hs.181855 AF15Q14|D40|KIAA1570|KNL1 protein-coding 1603612 CASD1 CAS1 domain containing 1 14702039,12477932,11703667,11528394 64921 NM_022900,AC002528,BC063284,AC096662,CH236949,CH471091,AB073397,AF355594,AF397424,AK024866,AK025532,AK123866,AK123895,BC029543,BC050313 NP_075051,AAH63284,Q8WZ77,Q96PB1,AAB69978,EAL24136,EAW76789,EAW76790,EAW76791,EAW76792,EAW76793,BAE45726,AAL33538,AAK97479,BAB15028,BAB15163 Hs.260041 C7orf12|FLJ21213|FLJ21879|FLJ41901|NBLA04196 protein-coding 733678 CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) The CASK gene encodes a calcium/calmodulin-dependent serine protein kinase that is a member of the membrane-associated guanylate kinase (MAGUK) protein family. MAGUKs are scaffolding proteins associated with intercellular junctions (Atasoy et al., 2007 [PubMed 17287346]).[supplied by OMIM] 734690,1580863 9660868,18423203,17287346,16842202,16637659,15694377,15673434,15331416,15066269,15024025,14960569,14627983,12641734,12511555,12477932,12351654,12202822,12151522,12151521,12110687,12093160,12040031,12006486,11880184,11742811,11679592,11377421,11356864,11120739,11036064,11003712,10993877,10856295,10749215,10460248,9952408,9822620,9753324,9722958,9660869,9546224,8786425,12676536,15729360,10455105 734690 8573 NM_003688,NM_001126054,NM_001126055,AL158144,AL353691,AL445239,AL603754,AL627402,CH471141,AB039327,AB208859,AF032119,AF035582,AF262404,AF262405,AK313399,AY705392,BC035990,BC117311,DN993605 NP_003679,NP_001119526,NP_001119527,CAI41090,CAI41091,CAI41092,CAI41093,CAI41094,CAI41095,CAI41096,EAW59390,EAW59391,EAW59392,EAW59393,BAB12252,BAD92096,AAB88125,AAB88198,AAF72666,AAF72667,AAU10527,AAI17312,O14936,Q5JR29,Q5JS79,Q5VT15 Hs.495984 GDB:9864196 CMG|LIN2 calcium/calmodulin-dependent serine protein kinase protein-coding 1351061 CASKIN1 CASK interacting protein 1 632380,1580863 12040031,12477932,10718198 632380 57524 NM_020764,AC009065,CH471112,AB037727,AF451977,BC042011 NP_065815,EAW85543,EAW85544,EAW85545,BAA92544,AAL49758,AAH42011,Q3ZCT2,Q8WXD9 Hs.643537 ANKS5A protein-coding 1320238 CASKIN2 CASK interacting protein 2 632380,1580863 12040031,17081983,16094384,15592455,15489334,12477932,10574461 632380 57513 NM_020753,AC100787,CH471099,AB032965,AF451976,AK025262,BC032359,BC066643 NP_065804,EAW89278,BAA86453,AAL49757,AAH66643,Q8WXE0 Hs.274408 ANKS5B|FLJ21609|KIAA1139 protein-coding 1344893 CASKP calcium/calmodulin-dependent serine protein kinase (MAGUK family) pseudogene 12815422 10029 NG_002805,AC004474 GDB:9954903 pseudo 735988 CASP1 caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing of this gene results in five transcript variants encoding distinct isoforms. 1580863,1300048 10799503,10353249,12888622,15107016,12761501,1373520,18329368,18304957,18263805,18209072,17959595,17623017,17597823,17477815,17418785,17360653,17303764,17196042,17173859,17036048,16920334,16903774,16817903,16785446,16778130,16621994,16428475,16405550,16260731,16123779,16087165,16037825,15809717,15561713,15498465,15489334,15471361,15383541,15326478,15296730,15039421,15030775,14669344,14584052,12692130,12628757,12477932,12459463,12459189,12387869,12215842,12191486,12170183,12096920,12019269,11997061,11967258,11953316,11821383,11536016,11472070,11438643,11437653,11432859,11390368,11226410,11085743,10708425,10660263,10510468,10438581,10329646,10069390,9990034,9987822,9894612,9875225,9830039,9804161,9792675,9727491,9705938,9705209,9632733,9593687,9535906,9435230,9373149,9334338,9334240,9250871,9219695,9190289,9115219,9070648,8999548,8978814,8861900,8125298,8044845,8035875,8034320,7876192,7797510,7721861,7642516,1919001,1574116,1321594,15749123,9548463,9002959 834 BC062327,CR592117,M87507,U13697,U13698,U13699,U13700,X65019,NM_033292,NM_033295,NM_033294,NM_033293,AP001153,CH471065,AA761907,AB102878,AK223503,AK290114,AK290122,AY660536,BC041689,NM_001223 AAH62327,AAA66942,AAC50107,AAC50108,AAC50109,AAC50110,CAA46153,P29466,Q5FBZ0,NP_001214,NP_150634,NP_150637,NP_150636,NP_150635,EAW67057,EAW67058,EAW67059,EAW67060,EAW67061,BAD89407,BAD97223,BAF82803,BAF82811,AAT72297,AAH41689 Hs.2490 GDB:132368 ICE|IL1BC|P45 caspase 1 protein-coding 1347736 CASP10 caspase 10, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with apoptosis defects seen in type II autoimmune lymphoproliferative syndrome. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 18381704,17999750,17822854,17623017,17534194,17450141,17085968,17071630,16767158,16446975,16251207,16186808,15772077,15767684,15735701,15500642,15452117,15069192,14761933,14759258,14688482,14687710,12887920,12527898,12477932,12388546,12198154,12037669,12010812,11973654,11583996,11395500,11161814,11098060,10734073,10716992,10432301,10187817,9792675,9373149,9337844,9325248,9289491,9228018,9208847,9153302,9045686,8962078,8521391,8125298,3031469,1171445,170210,15659383,8755496,10412980,11717445,11048727 843 NM_032974,NM_032977,NM_001230,NG_007265,NG_007497,AB038979,AC007283,CH471063,AF111344,AF111345,AI696103,AJ487678,AJ487679,AK225475,AY690601,BC042844,U60519,U86214 NP_116756,NP_116759,NP_001221,BAB32553,BAB32554,AAY24291,EAW70247,EAW70248,EAW70249,EAW70250,EAW70251,AAD28402,AAD28403,CAD32371,CAD32372,AAU00989,AAH42844,AAC50644,AAB46730,Q68HC0,Q6KF62,Q6KF63,Q8IUP5,Q92851 Hs.5353 GDB:6053891 ALPS2|FLICE2|MCH4 caspase 10, apoptosis-related cysteine protease protein-coding 1348077 CASP12 caspase 12 (gene/pseudogene) Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene, CASP12, is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. 17574210,16917906,16532395,15129283,15033764,14532116,12975309,12054529,9038361 120329 NR_000035,AP002004,AF464191,AF464192,AF464193,AF464194,AF464195,AF486844,AF486845,AF486846,AF486847,AY358222 Q6UXS9,AAQ88589 Hs.476989 GDB:11509999 CASP12P1 caspase 12 pseudo 1342676 CASP13 caspase 13, apoptosis-related cysteine protease 9624166 338022 AF078533 GDB:9956055 1323414 CASP14 caspase 14, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. 1580863 10203698,18424262,17558860,17436577,17359582,16854378,16168224,16061862,16061209,15619438,15489334,15331408,12477932,12445205,12200134,12181750,11175259,11121154,11062009,9823333,9792675,1286667 23581 NM_012114,AC004699,CH471106,AF097874,BC069541,BC103868,BC103869,EU262664,EU502748 NP_036246,EAW84459,AAD16173,AAH69541,AAI03869,AAI03870,ABX83060,ACA63845,P31944 Hs.466057 GDB:11500415 MGC119078|MGC119079 protein-coding 1604850 CASP2 caspase 2, apoptosis-related cysteine peptidase (neural precursor cell expressed, developmentally down-regulated 2) This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The proteolytic cleavage of this protein is induced by a variety of apoptotic stimuli. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. 12065594,12011445,11972030,11832478,11823470,11425872,11399776,11350957,11313953,10791974,10329646,9847074,9792675,9695946,9560245,9261102,9228018,8985253,8962078,8780721,8654923,8044845,7789948,16189514,14713958,11156409,11076957,8087842,18238895,18166155,17945178,17637755,17627033,17195089,17159900,17079734,16843824,16822901,16777994,16652156,16387548,16227610,16193064,16172118,15843892,15817479,15735701,15590671,15555560,15511269,15500642,15489334,15297885,15262979,15173176,15073321,14716300,14702039,14701762,14647455,14623896,14584591,12920126,12853948,12837286,12598307,12584573,12477932,12477715,12193789,12145703,12107826 835 NM_032982,NM_032983,AC073342,AY219042,CH236959,CH471198,AB209640,AF314174,AF314175,AK096245,AK291274,BC002427,BG397039,BM998653,BT007240,BX537669,CB988674,CR541748,CR591430,U13021,U13022 NP_116764,NP_116765,AAP22346,AAP22347,AAP22348,AAP22349,AAO25653,EAW51863,EAW51867,EAW51870,BAD92877,AAK00299,AAK00300,BAF83963,AAH02427,AAP35904,CAG46548,AAA58959,AAA58960,P42575,Q9BZL0,ABM84746 Hs.368982 GDB:270140 CASP-2|ICH-1L|ICH-1L/1S|ICH1|NEDD2 protein-coding 731002 CASP3 caspase 3, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 6, 7 and 9, and the protein itself is processed by caspases 8, 9 and 10. It is the predominant caspase involved in the cleavage of amyloid-beta 4A precursor protein, which is associated with neuronal death in Alzheimer's disease. Alternative splicing of this gene results in two transcript variants that encode the same protein. 1300048,734693,734692,71121,2293092,2293304,2293322,2293309,2293311,2293308,2293314,2293330,2293093,2293315,2293306,2293307,2293316,2293324 8976194,9108473,9624143,10490026,10748026,10823823,11076937,11106668,11313965,11500511,11689006,16286477,16983089,9353287,9736630,7983002,11350920,12888622,18381704,18298948,18296636,18256758,18211414,18209072,18171980,18164959,18155731,18088367,18083346,18058802,18055116,18047842,18000616,17989718,17983802,17981569,17978580,17908973,17880920,17724022,17698513,17689858,17645689,17616526,17606900,17013758,17013756,16977583,16949642,16935258,16931214,16894574,16884727,16882668,16835231,16808908,16802364,16791842,16787777,16781734,16716256,16689860,16651613,16567804,16530191,16530181,16529748,16526059,16516911,16505307,16498457,16455648,16382148,16344560,16337360,16320828,16300929,16242324,16227597,16213496,16203739,16179347,16121124,16080782,17606719,17597071,17559062,17544405,17534194,17525639,17505517,17495975,17462862,17437405,17436592,17430778,17413988,17412564,17379327,17364171,17324936,17321792,17301822,17272816,17245643,17235653,17219053,17217622,17198755,17172814,17167422,17143787,17141888,17130234,17124493,17123522,17121821,17118559,17114647,17071630,17065568,17038954,17023557,15241180,15220451,15205454,15200957,15187159,15178331,15156398,15153940,16009347,15996160,15935070,15869582,15848173,15843892,15803189,15748808,15748158,15716280,15705385,15670787,15657356,15657349,15638357,15637055,15617521,15599395,15569692,15569672,15569669,15564512,15542841,15505416,15489334,15473998,15375594,15345747,15280469,15254227,15246206,15098015,15087450,15041704,15033815,15033720,15015772,15014070,14991812,14982947,14976035,14971566,14970175,14960581,14764700,14710359,14684629,14678329,14674699,14657946,14623896,14612448,14572611,14570914,12897143,12874324,12867600,12854132,12837287,12833566,12824190,12809603,12804035,12792782,12788938,12788227,12760639,12750404,12750393,12707329,12700660,12700630,12686427,12677451,12657644,12643601,12621124,12611892,12606589,12605885,12598529,12581734,12579342,12576443,12576296,12566444,12515825,12511568,12490308,12483536,12477932,12444137,12438416,12425945,12401855,12397210,12393901,12390838,12297281,12235123,12228224,12210761,12207967,12186978,12181742,12181128,12169388,12151338,12150947,12149654,12145703,12124386,12118383,12112012,12107159,12095993,12080079,12070657,12070005,12055227,12044963,12036886,12032677,12004072,11992386,11989976,11988074,11981455,11972398,11960384,11948397,11927604,11904443,11901153,11875078,11866986,11859414,11854437,11840332,11825902,11815631,11802788,11795487,11788610,11787859,11752060,11748221,11741893,11696595,11675509,11602184,11555640,11551979,11550094,11162351,11162250,11149901,11098060,11084335,11058115,11053413,11042212,11024045,11016947,10998058,10942389,10926122,10896157,10821855,10799874,10791974,10777594,10770929,10734073,10713703,10712510,10708425,10675528,10672017,10671544,10629060,10611247,10608812,10602513,10602493,10579725,10564664,10556977,10510468,10479680,10469173,10454555,10438581,10435619,10432301,10409750,10364179,10319819,10205159,10205158,10200531,10103059,10082566,10069390,10066732,10022118,9990034,9933635,9894612,9878167,9875225,9857079,9850056,9811849,9799125,9786869,9751706,9708895,11526478,11517310,11514563,11509621,11479289,11478781,11470874,11447297,11438643,11437602,11425872,11423904,11420704,11399776,11387340,11356849,11345898,11331419,11283607,11278797,11278782,11278572,11278424,11278283,11274152,11261798,11257232,11248093,11230124,11222676,11175261,9705209,9694885,9685336,9671712,9660939,9632733,9618490,9593687,9545236,9535906,9525868,9452471,9422780,9395403,9384571,9368003,9367996,9361003,9351817,9348292,9337844,9334338,9334240,9323209,9298992,9267021,9252332,9235961,9233763,9230442,9219695,9208847,9206994,9115219,9045680,9021152,8943232,8900201,8812467,8804412,8780721,8755496,8696339,8673606,8626669,8605870,8044845,7774019,7596430,1067155,16330530,16897667,16520893,17140287,16480911,11462036,16111829,14993250,14555204,12190962,12019321,11141237,10704341,10430052,9548463,16511342,16338743,16120388,15725353,15578977,12404116,15179054,15767427,11123279,11177389,15204919,11752215,16189514,15994554,15806167,15735701,15706351,9326610,10862606,15650747,15258591,15186778 734693,734692,71121,2293092,2293304,2293322,2293309,2293311,2293308,2293314,2293330,2293093,2293315,2293306,2293307,2293316,2293324 836 NM_032991,NM_004346,AC073932,AC079257,AY219866,CH471056,CQ786438,AJ413269,AK291337,AU127028,AU133051,BC016926,BU753483,BX647609,CR620420,U13737,U13738,U26943 NP_116786,NP_004337,AAO25654,EAX04673,EAX04674,EAX04675,EAX04676,CAG17895,CAC88866,BAF84026,AAH16926,CAI46084,AAA65015,AAB60355,AAA74929,P42574,Q5HYI3,ABM82469,ABM85657 Hs.141125 GDB:1336642 CPP32|CPP32B|SCA-1 caspase 3, apoptosis-related cysteine protease protein-coding 1343162 CASP4 caspase 4, apoptosis-related cysteine peptidase This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. 1580863 17353931,7743998,7797510,18056395,18029041,16920334,15975932,15500642,15489334,15326478,15146197,15123740,14702039,12477932,12096920,10872455,10477277,10329646,10069390,9875225,9792675,9694885,9539746,9373149,9250871,9233763,8962078,8125298,7797592,1919001 837 NM_001225,NM_033306,A48861,AP001153,AP002004,CH471065,EF636667,AI128358,AK057094,AK225751,AL050391,BC008060,BC017839,CN261701,CR595643,CR596626,CR601555,CR609637,CR613155,CR622245,U25804,U28014,U28976,U28977,U28978,U28979,Z48810 NP_001216,NP_150649,CAA03154,EAW67050,EAW67051,EAW67052,EAW67053,ABR09278,CAB43686,AAH17839,AAA86890,AAA75171,AAC99850,AAC99851,AAC99852,AAC99854,CAA88750,O95601,P49662,Q7KYX7,Q9UG96,ABM82909,ABM86099,AAC99853 Hs.138378 GDB:605584 ICE(rel)II|ICEREL-II|ICH-2|Mih1/TX|TX caspase 4, apoptosis-related cysteine protease protein-coding 1351672 CASP5 caspase 5, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. 1580863 7797592,17418785,17676485,16893518,16886895,15886296,15576789,12964016,12853457,12479849,12477932,12191486,11535131,11356849,10986288,10872455,9894612,9298992,9250871,8617266 838 NM_004347,AP001153,CH471065,DQ508420,BC074994,BC113406,DQ228672,DQ228673,DQ228674,DQ228675,DQ228676,DQ228677,DR005081,U28015,W60703,X94993 NP_004338,EAW67054,EAW67055,EAW67056,ABF47103,AAH74994,AAI13407,ABB58698,ABB58699,ABB58700,ABB58701,ABB58702,ABB58703,AAA75172,CAA64450,P51878,Q0QVY7,Q0QVY8,Q0QVY9,Q0QVZ0,Q0QVZ1,Q0QVZ2,Q14DD6,Q1HBJ3,Q6DJV7 Hs.213327 GDB:3908461 ICE(rel)III|ICEREL-III|ICH-3|MGC141966 caspase 5, apoptosis-related cysteine protease protein-coding 732006 CASP6 caspase 6, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in two transcript variants that encode different isoforms. 1300048 11262188,11246070,11098060,10770929,10734073,10655504,10481058,10469173,10438520,10432301,10409650,10205159,10069390,9990034,9933635,9857079,9593687,9463409,9337844,9298992,9228018,9219695,8978814,8962078,8900201,16135563,16123779,15735701,15654952,15511269,15500642,15489334,15356202,15321985,15280469,15273717,12477932,12232792,12145703,12089322,12052891,11953316,11901153,11802788,11514563,11463840,11438643,11423904,11387340,11356849,11331782,7796396,12888622,18155731,17392160,16977583,16948818,16518869,16341674,8812467,8780721,8710882,7983002,15103018,16189514,15200957,14713958 839 CH471057,BC000305,BC004460,BM837197,CR616049,U20536,U20537,NM_032992,NM_001226,AC004067,AY254046 AAO63494,EAX06244,EAX06245,AAH00305,AAH04460,AAC50168,AAC50169,P55212,ABM85515,ABW03757,NP_116787,NP_001217 Hs.654616 GDB:3750010 MCH2 caspase 6 protein-coding 1298347 CASP7 caspase 7, apoptosis-related cysteine peptidase This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of this caspase is cleaved by caspase 3 and 10. It is activated upon cell death stimuli and induces apoptosis. Alternative splicing results in four transcript variants, encoding three distinct isoforms. 734511,1580863 9325343,8567622,12665508,12888622,8576161,9922454,11257231,18072206,17978580,17880920,17697120,17532763,17504820,17094969,17023557,16918502,16498457,16344560,16213496,16123041,15735701,15650747,15511269,15500642,15489334,15033720,14623896,14584591,14583630,12970753,12951057,12824163,12804035,12586738,12477932,12181742,12145703,12107159,11943137,11904443,11859414,11829465,11815631,11802788,11755217,11752425,11555640,11535131,11514563,11448953,11425872,11423904,11399776,11387340,11359776,11356849,11278572,11257230,11170436,11084335,11058599,11024045,10998058,10791974,10731697,10675528,10564664,10469173,10318789,10200531,10082581,10069390,9990034,9894612,9850056,9671712,9607320,9593687,9535906,9525868,9384571,9373149,9337844,9323209,9298992,9230442,9228018,9219695,9070923,8962078,8812467,8780721,8755496,8631895,8521391,8125298,7983002,1056466,16189514,15580265,10862606,15200957,14713958 734511 840 NM_033340,NM_033338,NM_033339,NM_001227,AL592546,AL627395,CH471066,AK223489,AU130224,BC015799,BP429646,BQ007179,BT006683,BX487250,BX647973,CR591113,U37448,U37449,U39613,U40281,U67206,U67320 NP_203126,NP_203124,NP_203125,NP_001218,CAI12638,CAI12639,CAI12640,CAI16004,CAI16005,CAI16006,EAW49494,EAW49495,EAW49496,EAW49497,EAW49498,AAH15799,AAP35329,AAC50303,AAC50304,AAC50346,AAC50352,AAF21460,AAC51153,P55210,Q53YD5,Q5SVL0,Q5SVL2,Q5SVL3,ABM92231,ABM84695 Hs.9216 GDB:3750011 CMH-1|ICE-LAP3|MCH3 caspase 7, apoptosis-related cysteine protease protein-coding 730846 CASP8 caspase 8, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. 734696,734695,1580863,1300048 12477932,12438416,12393901,12353035,12232792,12218097,12215447,12198154,12196516,12191471,12189238,12170765,12131184,12122017,12107169,12107159,12097160,12096338,12095993,12065591,12052891,12041673,12037669,12021264,12010809,11965497,11933563,11917123,11877293,11865194,11788820,11772515,11752160,11751897,11751056,11741396,11735112,11734564,11733517,11683038,11583996,11555640,11514563,11479289,11437602,11431480,11423904,11420686,11406564,11395500,11387340,11340079,11264300,11181075,11161814,11135621,11102441,11101867,11098060,11085743,11002417,11000244,10964557,10926122,10911620,10860845,10734073,10716992,10708425,10616217,10521396,11992615,10508784,10493725,10469173,10442631,10438581,10435619,10432301,10329646,10235259,10069390,9990034,9971775,9931493,9878167,9875225,9535906,14713958,12220669,14982947,14982875,14970175,14759258,14701762,14688019,14644092,14625033,14584591,14560027,14522966,13679856,12960156,12912912,12841868,12754217,12750404,12750393,12748179,12738800,12721308,12707329,12702723,12700660,12700635,12692130,12668660,12646168,12620239,12598529,12527898,12507932,12496482,12496481,9804161,9792675,9763668,9727492,9727491,9632733,9624166,9575181,9560245,9539746,9380701,9337844,9334338,9325248,9289491,9271594,9228018,9219695,9208847,9184224,9006941,8962078,8755496,8681377,8521391,7983002,3031469,170210,12404116,15578977,15142380,11177389,15659383,10381631,9326610,15383280,12804595,8681376,11717445,12761501,14644197,11048727,12888622,10891503,9721089,10894160,12887920,18483392,18431743,18398042,18381704,18362937,18324486,18305469,18161513,18158779,18089800,18089778,18086677,18076022,18045865,17940865,17932347,17911615,17891485,17726263,17684142,17666167,17627287,17626072,17623017,17616526,17599062,17585337,17572490,17545522,17534194,17532763,17525260,17450141,17436592,17378240,17337451,17314102,17293864,17290218,17272309,17224200,17182797,17170703,17071630,17064406,17047155,17030903,17018785,16951203,16938569,16886176,16762833,16733806,16722146,16636047,16633737,16619028,16607283,16556893,16541419,16538383,16528386,16478725,16446372,16436380,16397500,16374545,16344560,16251207,16242324,16227629,16225956,16193064,16186808,16179941,16179347,16135563,16036110,15976052,15956881,15906362,15849201,15815621,15782135,15760909,15746428,15735742,15735701,15701651,15645452,15640164,15637055,15611097,15601643,15592525,15592455,15531912,15509781,15507484,15492869,15489334,15476874,15473998,15390286,15389560,15369772,15289853,15280356,15262979,15254227,15210716,15205454,15159409,15111130,15650242,15069192,15067048,15034549,15024054,15015772,14993214,14991747 734696,734695 841 U60520,X98172,X98173,X98174,X98175,X98176,X98177,X98178,NM_001228,NM_001080124,NM_033355,NM_033358,NM_001080125,NM_033356,NG_007497,AB038985,AC007256,AC007283,AF102139,AF102140,AF102141,AF102142,AF102143,AF102144,AF102145,AF102146,AF207672,CH471063,DQ355026,AA312258,AF009620,AF380342,AF422926,AF422927,AF422928,AF422929,AI351872,AL600571,AL601594,AL702116,BC010390,BC017031,BC028223,BC068050,BG498355,BX395849,CB990598,DA420056,DB157537,U58143 AAC50645,CAA66853,CAA66854,CAA66855,CAA66856,CAA66857,CAA66858,CAA66859,Q14790,Q6NVI2,Q9HBU4,AAC50602,NP_001219,NP_001073593,NP_203519,NP_203522,NP_001073594,NP_203520,BAB32555,AAY24225,AAD24962,AAG10682,EAW70253,EAW70254,EAW70258,EAW70262,ABC67468,AAB70913,AAK57437,AAL87629,AAL87630,AAL87631,AAL87632,AAH68050 Hs.655983 GDB:4590254 ALPS2B|CAP4|FLICE|MACH|MCH5|MGC78473 caspase 8, apoptosis-related cysteine protease protein-coding 1314005 CASP8AP2 CASP8 associated protein 2 This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. 10235259,12477726,17696945,17245429,17003126,17003125,16627760,15698540,15592525,15489334,14702039,12477932,12168954,11340079,10718198,10537104 9994 CH471051,AB037736,AF154415,AF164678,AF165161,AJ420582,AK002070,BC012574,BC027850,BC029386,BC042577,BC056685,BC132828,BC132830,BC150274,NM_012115,AL353692 CAI16239,EAW48540,EAW48541,EAW48542,EAW48543,EAW48544,BAA92553,AAF03367,AAD45537,AAD45157,BAA92067,AAH42577,AAH56685,AAI32829,AAI32831,AAI50275,Q5T791,Q5T792,Q9UKL3,NP_036247,CAI16238 Hs.558218 GDB:9958564 CED-4|FLASH|FLJ11208|KIAA1315|RIP25 protein-coding 69147 CASP9 caspase 9, apoptosis-related cysteine peptidase This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspase APAF1; this step is thought to be one of the earliest in the caspase activation cascade. Alternative splicing results in two transcript variants which encode different isoforms. 1580863,1300048 14991812,14982875,14747474,14701803,14684629,14634335,14566819,12954616,12914932,12804035,12792650,12782307,12749848,12732844,11076957,11024045,10708425,10671558,10469173,10438581,10384055,10376594,10329646,10187815,10070954,9990849,9890966,12637514,12620239,12620238,12586738,12566444,12477932,12393884,12393263,12372609,12147322,12145703,12096338,12095993,12055227,12021264,11948397,11927604,11919192,11905052,11870543,11803376,11801603,11801602,11734640,11514563,11423904,11408476,11390657,11387340,11350957,11248093,11242052,9878060,9837928,9671712,9651578,9545235,9539746,9488720,9337844,9323209,8962078,8900201,7983002,11230124,11084335,1067155,16520893,17140287,11462036,16511342,16480911,16120388,15725353,15578977,12404116,15767427,9922454,18381704,18202770,18083711,17893147,17715156,17626072,17534194,17466630,17437405,17379327,17299206,17291493,17285546,17079734,17071630,17030903,16895904,16780893,16716256,16710414,16689829,16687442,16505493,16505307,16337360,16300929,16287866,16260615,16242324,16181301,16038259,15935070,15811855,15735701,15703181,15674327,15657349,15657060,15629764,15500642,15489334,15485396,15485395,15473998,15300255,15280366,15273730,15220451,15214043,14993223,9390557,11069302,8663294,9812896,16189514,15262985,15200957,15829969 842 NM_001229,AB019205,AL512883,AY214168,CH471167,AB015653,AB020979,AB209147,AF093130,AF110376,AJ781267,NM_032996,AK292080,AK292111,AY732490,BC002452,BC006463,BT006911,CR597028,CR613097,U56390,U60521 NP_127463,NP_001220,BAA82697,CAC42423,CAI12971,CAI12972,CAI12973,CAI12974,AAO21133,EAW51730,EAW51731,BAA78780,BAA87905,BAD92384,AAD12248,AAD13615,CAH03131,BAF84769,BAF84800,AAV33129,AAH02452,AAH06463,AAP35557,AAC50640,AAC50776,P55211,Q53Y70,Q59GG2,Q5JRU2,Q5JRU8,Q5JRU9,Q5UGI1,Q6EV95,ABM82619 Hs.329502 GDB:4590186 APAF-3|APAF3|CASPASE-9c|ICE-LAP6|MCH6 caspase 9 protein-coding 1344349 CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) The protein encoded by this gene is a mitochondrial calcium-binding protein located in the luminal space of the terminal cisternae of the sarcoplasmic reticulum. The protein binds and putatively stores calcium ions. The protein is absent in patients with Duchenne and Becker types of muscular dystrophy. 1580863 7945294,18452871,18269685,17681849,17009399,15561963,15561962,15489334,12477932,8406504,2321095 844 NM_001231,AL121987,AL139011,CH471121,AI141895,BC022289,BF574316,BX500008,S73775 NP_001222,CAI15276,EAW52736,AAH22289,AAB32063,P31415,Q5JW76,ABM82911,ABM86101 Hs.632476 GDB:125180 CASQ|PDIB1 protein-coding 737298 CASQ2 calsequestrin 2 (cardiac muscle) The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. 734697,1580863 9795116,18399795,17938175,17881003,17655857,17607358,17531962,17045261,16908766,16601229,15489334,15485681,15050380,14638677,14571276,12858557,12732448,12477932,12386154,11704930,11113462,11069905,10825439,10748065,9373149,9287354,8889548,8406504,8125298,7721813,1985907 734697 845 NM_001232,AL449264,AL450389,CH471122,AK129831,AK129891,AK225959,AK313041,BC022288,BM679349,D55655,DC423064 NP_001223,CAI14532,CAI23373,EAW56635,EAW56636,BAG35873,AAH22288,BAA23494,O14958,Q5T1D2,ABM84145,ABM87547 Hs.57975 GDB:135684 FLJ26321|FLJ93514|PDIB2 calsequestrin 2 protein-coding 10291 CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) The calcium-sensing receptor (CASR) functions as a sensor for parathyroid and kidney to determine the extracellular calcium concentration and thus helps to maintain a stable calcium concentration. Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia, whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia. An altenatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined. 734699,1600616,1580863,1598940,734698 7874174,7759551,7916660,18443236,18393231,18296474,18065418,17979873,17962359,17932932,17886119,17853337,17698911,17623778,17591780,17537980,17513419,17482347,17478419,17473068,17463182,17426287,17374709,17374704,17372216,17332735,17331389,17320849,17310098,17309124,17284438,17138967,17132283,17124506,17122384,17110864,17097611,17062884,17054460,17046587,17018660,16938272,16854379,16740430,16738533,16735501,16642557,16622736,16616098,16598859,16596260,16509534,16497624,16472767,16278666,16218047,16147994,16117875,16109841,15960151,15888439,15879434,15864123,15837785,15805541,15781005,15718278,15684428,15657061,15637145,15613438,15598778,15591042,15579475,15572418,15551332,15531522,15501733,15489334,15472173,15219850,15201280,14985373,14976203,14729680,14713274,14660633,14508624,12914574,12899245,12890593,12783889,12773131,12700051,12656660,12605346,12574201,12544508,12517779,12477932,12469911,12459170,12409307,12399473,12241879,12239240,12150336,12095982,12052452,12050233,12040821,12036954,12018449,11984699,11979955,11907035,11889203,11889154,11863123,11762699,11668634,11589681,11390380,11390379,11248745,11161843,11108243,11095989,11013439,10487661,10405337,9920407,9920108,9852126,9722601,9694886,9677383,9298824,9217223,9168937,8756555,8733126,8702647,8675635,8613532,8597637,7726161,7677761,7673400 734699,1600616,1598940,734698 846 NM_000388,AC068630,AC068754,AY259116,CH471052,DQ088967,DQ327723,DQ327724,DQ327725,DQ327726,DQ327727,DQ327728,S68032,S68033,S68036,X81086,BC104999,BC112236,D50855,S79217,S81755,S83176,U20759,U20760,W56898 NP_000379,AAP20759,EAW79490,EAW79491,EAW79492,AAY68221,ABD04091,ABD04092,ABD04093,ABD04094,ABD04095,ABD04096,AAB29413,AAB29414,AAB29415,CAA56990,AAI05000,AAI12237,BAA09453,AAB35262,AAD14370,AAB46873,AAA86503,AAA86504,P41180,Q2F3K1,Q2F3K2,Q2F3K3,Q2F3K4,Q2F3K5,Q2F3K6,Q86UN7 Hs.435615 GDB:134196 CAR|FHH|FIH|GPRC2A|HHC|HHC1|MGC138441|NSHPT|PCAR1 calcium-sensing receptor protein-coding 1321668 CASS4 Cas scaffolding protein family member 4 18256281,15489334,14702039,12477932,11780052 57091 NM_020356,AL121914,CH471077,AJ276678,AK027760,BC027951,BX280195 NP_065089,CAC12719,CAI19330,EAW75541,EAW75542,EAW75543,EAW75544,EAW75545,EAW75546,EAW75547,CAC00655,BAB55351,AAH27951,Q5QPD6,Q5QPD7,Q9NQ75 Hs.473144 GDB:11504971 C20orf32|CAS4|HEFL|HEPL protein-coding 737362 CAST calpastatin The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length natures of only some have been determined. 1580863,1626249 18195134,18165173,17950697,17137217,17081983,16381901,15950654,15820218,15489336,15489334,15302935,15014085,14992597,14702039,14685690,14612448,14559243,12923177,12684003,12591934,12482888,12477932,11978196,11849768,11230166,11076863,10942721,10859257,10822276,10731697,10600505,9873017,9705209,9213221,8340353,7998969,7951045,7710300,7706496,7638179,2849943,2577276,2559735,2553724,2548504,2407243,2265559,1995645,1569094,16189514 1626249 831 NM_001750,NM_001042441,NM_001042442,NM_173063,NM_001042440,NM_001042443,NM_173060,NM_001042445,NM_001042444,NM_001042446,NM_173061,AC008906,AC020900,CH471084,M28227,M28228,M28229,M28230,M86249,AK292356,AL832174,AL832349,AY189741,BC013579,BC016066,BC078149,BQ420953,BQ893654,BT009783,BX648397,CD702474,D16217,D50827,DR004967,M33328,M86258,S73329,U26724,U31345,U31346,U38525,U58996,U83601,AB026049,AB208816,AF095891,AF327443,AK098137,AK292289 NP_001741,NP_001035906,NP_001035907,NP_775086,NP_001035905,NP_001035908,NP_775083,NP_001035910,NP_001035909,NP_001035911,NP_775084,EAW96064,EAW96065,EAW96066,EAW96067,EAW96068,EAW96069,EAW96070,EAW96071,EAW96072,EAW96073,EAW96074,EAW96075,EAW96076,AAA52066,BAF84978,BAF85045,AAO34397,AAH13579,AAH16066,AAH78149,AAP88785,BAA03747,BAA09438,AAA52296,AAB59398,AAB32311,AAC50136,AAB60371,AAB60372,AAA80684,AAC14353,P20810,Q05DE8,Q0JT52,Q0JT61,Q13940,Q15786,Q59HE3,Q6AZE3,Q7KYS9,Q7Z4K0,Q86YM9,Q9Y2M4,CAL38303,CAL38312,ABM82405,ABM85594,AAA52759,AAB41237,BAA76923,BAD92053,AAD09102,AAG48151 Hs.440961 GDB:125210 BS-17|MGC9402 protein-coding 1606535 CASZ1 castor zinc finger 1 17727731,16710414,16631614,16322216,15489334,14702039,12477932,9373149,8125298 54897 NM_001079843,NM_017766,AL031984,AL139423,AL157717,CH471130,AA449398,AK000328,AK022285,AK092289,AK130996,AK225324,BC004410,BC051883,DQ217660,DQ372703 NP_001073312,NP_060236,CAI22570,CAI22571,EAW71662,EAW71663,BAA91089,BAC85474,AAH04410,AAH51883,ABB29845,ABD14411,Q2EN02,Q5T9S0,Q86V15,ABZ92343 Hs.439894 CST|FLJ12223|FLJ20321|RP4-734G22.2|SRG|ZNF693|dJ734G22.1 protein-coding 732740 CAT catalase 1581147,1581148,1581149,1581150,1581151,1300375,1300048,1580863 10656833,18379038,18483329,18469277,18423055,18368408,18353692,18248894,18048809,17937824,17850515,17696155,17693525,17646900,17634480,17577741,17567781,17567676,17549373,17548672,17264407,17213227,17209132,17171548,17145829,17005595,16956821,16868544,16775184,12372460,12231449,12165738,12110367,12032677,11907164,11837458,11729237,11728823,11479740,11313354,11182520,11134921,11106583,10960480,10666617,10567403,10488055,10096042,9848047,9818873,8479912,8282800,6548744,6252821,3944256,3755526,3755525,2308162,2268310,1602151,1551654,14975589,16773213,16729966,16644728,16630078,16600249,16586065,16554811,16523188,16504657,16482509,16467073,16453382,16424062,16387755,16385446,16298864,16236267,16204228,16192345,16098030,16076760,16047490,16026777,15988600,15934434,15870505,15800961,15774926,15735318,15733034,15705913,15556604,15528999,15489334,15472150,15203188,15182856,15133753,15131792,15125229,14962975,14710363,14580687,12950161,12838770,12824748,12777400,12730222,12665801,12606529,12603857,12516882,12487379,12477932,12469627,12468545,12447480 1581147,1581148,1581149,1581150,1581151,1300375 847 NM_001752,AL035079,AY545477,CH471064,K02400,L13609,X04085,X04096,AK291585,AY028632,BC027300,BC110398,BC112217,BC112219,BI551632,CA748580,CR591917,CR595503,CR597192,CR602251,CR609505,CR613834,X04076 NP_001743,CAB45236,AAS37679,EAW68170,EAW68171,AAB59522,AAA16651,CAA27721,BAF84274,AAK29181,AAH27300,AAI10399,AAI12218,AAI12220,CAA27717,P04040,Q8TAK2,Q9UC85 Hs.502302 GDB:119049 MGC138422|MGC138424 protein-coding 1343051 CATHL1 cathelicidin 1 (cyclic dodecapeptide, bactenin 1) 7589491 848 GDB:1230279 1347815 CATHL2 cathelicidin 2 (bactenin 5) 7589491 850 GDB:1230280 1351205 CATHL3 cathelicidin 3 (bactenin 7) 7589491 851 GDB:1230281 1352997 CATHL4 cathelicidin 4 (indolicidin) 7589491 852 GDB:1230282 1345684 CATHL5 cathelicidin 5 7589491 853 GDB:1230283 1344569 CATHL6 cathelicidin 6 7589491 854 GDB:1230284 1343768 CATR1 CATR tumorigenicity conversion 1 7604004 856 Q13166 U25433 GDB:633071 1321252 CATSPER1 cation channel, sperm associated 1 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. 1580863 16740636,16625279,16382101,16189514,14688170,12477932,11675491,11595941,11595929 117144 NM_053054,AP006287,CH471076,AF407333,BC032950,BC036522 NP_444282,EAW74488,EAW74489,AAL14105,AAH32950,AAH36522,Q8NEC5 Hs.189105 GDB:11508330 CATSPER|MGC33335|MGC33368 protein-coding 1316921 CATSPER2 cation channel, sperm associated 2 Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. This gene is part of a tandem repeat on chromosome 15q14; the second copy of this gene is thought to be a pseudogene. Additional splice variants have been described but their full-length nature has not been determined. 1580863 16740636,16382101,14702039,12477932,11675491,11595929 117155 NM_172096,NM_172095,NM_054020,NM_172097,NG_005156,AC011330,CH471308,AF411817,AF411818,AF411819,AK093318,AK122607,AW135409,BC028728,BC064387,BX648099 NP_742094,NP_742093,NP_473361,NP_742095,EAW50798,EAW50801,EAW50802,AAL26490,AAL26491,AAL26492,AAH28728,AAH64387,Q96P56 Hs.662284 GDB:11508332 MGC33346 protein-coding 1625093 CATSPER2P1 cation channel, sperm associated 2 pseudogene 1 12825070,12477932 440278 NR_002318,NG_005156,AC018512,BC047442,BC052612,BC066967 AAH47442,AAH66967,Q6NXP5 Hs.253260 pseudo 1313883 CATSPER3 cation channel, sperm associated 3 1580863 17227845,16382101,12932298,12646162,12477932 347732 NM_178019,AC004764,AC008406,AC008670,CH471062,AF432876,AK292427,AY156951,BC101692,BC110384,BN000272 NP_821138,EAW62228,AAO85416,BAF85116,AAO13012,AAI01693,AAI10385,CAE30476,Q86XQ3 Hs.631804 CACRC|MGC126741 protein-coding 1350186 CATSPER4 cation channel, sperm associated 4 17227845,16382101,12932298 378807 NM_198137,AL355877,CH471059,BC128138,BC128139,BN000273 NP_937770,CAH71538,EAX07839,AAI28139,AAI28140,CAE30475,Q7RTX7 Hs.123532 MGC149223 protein-coding 1345422 CATSPERB cation channel, sperm-associated, beta 17478420,17081983,14702039,12477932 79820 NM_024764,AL121839,AL133373,AK024360,AK126034,BC016315,BC126214,BC126216 NP_079040,BAB14896,AAI26215,AAI26217,Q9H7T0 Hs.131755 C14orf161|CatSper(beta)|FLJ14298 protein-coding 619568 CAV1 caveolin 1, caveolae protein, 22kDa The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 MAP kinase cascade. CAV1 and CAV2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. By using alternative initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by a single transcript from this gene. 1581152,1581153,1581154,1600654,1625360,1625364,1580863,2289101,2289102,2289112,2289109,2289124,2289103,2289106,2289110,2289111,2289113,2289120,2289125,2289100,2289104,2289105,2289107,2289116,2289123 11294831,12852865,10212252,15182174,17855368,11865038,17848177,12743374,14707126,15219854,1360410,9188442,9580552,10781589,16722822,16807357,11256614,18300018,18296864,18258603,18237401,18180853,18081315,18054388,17942630,17936759,17935714,17933968,17906498,17851687,17850762,17786288,17785436,17713785,17707459,17699771,17671707,17662641,17626097,17615539,17609206,17594718,17537407,17478448,17460461,17379346,17359972,17341888,17334644,17314510,17299799,17287217,17284246,17272740,17245131,17237399,17202321,17200343,17197700,17190831,17179151,17178917,17111160,17081983,17047056,17014845,16979166,16931572,16920641,16904002,16897435,16877379,16870193,16857240,16850311,16822931,16820915,16790997,16723714,16713605,16617096,16616146,16608879,16601841,16601146,16541313,16501093,16480767,16443388,16407214,16405917,16381901,16338968,16332692,16328005,16324201,16263077,16251425,16244790,16225848,16202996,16151024,15976327,15969750,15968725,15958730,15951569,15948133,15817451,15811424,15769846,15722199,15703204,15691837,15665033,15657086,15592498,15592455,15590415,15531587,15504729,15498565,15496150,15489336,15489334,15485672,15485671,15466889,15466865,15458387,15375584,15353589,15334058,15314095,15274335,15263006,15242332,15240128,15234575,15234566,15205342,15201341,15190056,15069532,15064242,15003536,14981899,14963033,14729661,14719121,14706341,14665433,14660607,14645548,14612902,14593097,14576164,12888893,12816877,12813462,12810205,12737162,12732636,12730243,12716887,12711000,12694195,12690205,12648214,12606314,12562842,12529448,12507501,12477932,12429840,12414992,12414512,12401329,12388423,12372346,12368209,12359771,12354760,12235142,12186899,12185081,12176037,12138116,12122055,12011038,11980479,11956154,11920460,11915322,11866528,11845324,11805080,11751885,11748236,11707266,11563984,11546661,11498016,11451957,11432874,11278309,11238032,11114180,11112773,11102446,11078729,11076863,11075810,11039464,10988071,10921915,10675563,10637311,10598578,10218480,10090765,10087206,10086342,10085129,10066366,9867838,9837809,9801158,9741627,9685399,9662443,9647788,9553108,9380697,9374534,9361015,9110174,8910575,8910295,8632005,8621645,8619474,8058322,1294831,15539149,11563969,14675200,16189514,15782218 1581152,1581153,1581154,1600654,1625360,1625364,2289101,2289102,2289112,2289109,2289124,2289103,2289106,2289110,2289111,2289113,2289120,2289125,2289100,2289104,2289105,2289107,2289116,2289123 857 NM_001753,AC006159,AF019742,AF095591,AF095592,AF095593,AF125348,AJ133269,CH236947,CH471070,AB209926,AF070648,AF172085,AI878826,AK290871,AL133639,AY762103,BC006432,BC009685,BC082246,BT007143,EF179102,Z18951 NP_001744,AAB82538,AAD23745,AAD34722,CAB63654,EAL24360,EAW83503,EAW83504,EAW83505,BAD93163,AAQ13608,BAF83560,AAX07830,AAH09685,AAH82246,AAP35807,CAA79476,Q03135,Q2TNI1,Q59E85,Q71VB8,Q7Z4F3,CAL38555,ABM81573,ABM84753,ABW03274 Hs.74034 GDB:136448 CAV|MSTP085|VIP21 protein-coding 1343117 CAV2 caveolin 2 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. CAV1 and CAV2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Two transcript variants encoding distinct isoforms have been identified for this gene. By using alternative initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by one transcript. 1600654,1625364,1580863 10212252,8552590,12743374,15788404,11256614,18081315,17671707,17615539,17567994,17081983,16904002,16521037,16381901,16244790,15968725,15703204,15583422,15569306,15504032,15489336,15489334,12866378,12813462,12782592,12690205,12648214,12496259,12477932,12414992,12138116,12091389,11752456,11515846,11294831,11076863,10817676,10675615,10464308,10218480,10087206,9837809,9801158,9707634,9361015,7829101,7479780,1360410,16189514 1600654,1625364 858 AI762868,AK024513,AV650449,AW022298,AY353255,BC005256,BM542127,BM762545,BT007051,BX350116,CR407685,CR604437,DQ656068,NM_001233,NM_198212,AC006159,AJ011300,AJ133269,AJ242718,CH236947,CH471070,AA878149,AA883287,AF035752 AAQ57600,AAH05256,AAP35700,CAG28613,P51636,Q53X57,Q712N7,CAL38690,NP_001224,NP_937855,CAB36907,CAB63653,CAB65090,EAL24361,EAL24362,EAW83499,EAW83500,EAW83501,EAW83502,AAB88492 Hs.212332,Hs.603096 GDB:9835153 CAV|MGC12294 1643439 BW101_H protein-coding 1344208 CAV3 caveolin 3 This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. 1599529,1582168,1599542,1580863 10988290,17615539,18253147,17537631,17524427,17405141,17307729,17275750,17210839,17060380,17039257,16770780,16563233,16521037,16479074,16458928,16247063,16082247,15682833,15668980,15580566,15564037,15541368,15489334,15099591,14981167,14749532,14729862,14672715,14663034,14600260,12939441,12847114,12839838,12666119,12648214,12557291,12477932,12387816,12082049,11904769,11884389,11821059,11805270,11756609,11532985,11431690,11251997,11115849,11001938,10835421,10746614,10386585,9756945,9545514,9537420,9536092,9374534,9353265,9252390,8567687,7797570 1599529,1582168,1599542 859 NM_033337,NM_001234,AC068312,AF036366,AF036367,AF204690,CH471055,AA993189,AF036365,AF043101,AK291892,BC069368,BC102033,BC102036,BC102037,BF310794,Y14747 NP_203123,NP_001225,AAC39758,AAG02025,EAW63945,EAW63946,AAC39756,AAC14931,BAF84581,AAH69368,AAI02034,AAI02037,AAI02038,CAA75042,P56539 Hs.98303 GDB:9837402 LGMD1C|LQT9|MGC126100|MGC126101|MGC126129|VIP-21|VIP21 protein-coding 1353540 CBARA1 calcium binding atopy-related autoantigen 1 1302558 16344560,14702039,12477932,11230166,9806765,9373149,8125298 1302558 10367 NM_006077,AC091769,AL356009,AL513185,CH471083,AK022697,AK023318,AK225298,AK225695,AL117423,BC004190,BC004216,BC016641,CR615459,CR616781,CR625771,CR625827,DB030067,Y17711 NP_006068,CAI12376,EAW54457,EAW54458,EAW54459,BAB14187,CAB55915,AAH04190,AAH04216,AAH16641,CAA76830,Q9BPX6,ABM82013,ABW03344 Hs.524367 GDB:9956473 CALC|DKFZp564C246|EFHA3|FLJ12684 protein-coding 1319231 CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2 In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. 1580863 16966434,9447981,16713569,16189514,15489334,15302935,15146197,12477932,12242670,11780052,10675041,9790752,9787195,14703694,15333839 9139 BC015066,BC016298,BC040344,CB998035,CN347014,CR749462,NM_005093,NM_001039709,AF076452,AL034421,AL121906,AL162505,CH471077,AB209306,AF013970,AF039200,AF052210,AF052211,AF052212,AF068266,AF069747,NM_001032999 AAH15066,AAH16298,AAH40344,CAH18294,O43439,O60614,Q59G03,Q5TGE5,Q5TGE6,Q5TGE8,Q68DC6,ABZ92457,NP_001028171,NP_005084,NP_001034798,AAD41221,CAI19278,CAI19279,CAI19280,CAI19281,CAI22125,CAI22130,EAW76311,EAW76312,EAW76313,BAD92543,AAC39841,AAC17499,AAC64699,AAC64700,AAC19378,AAD02825 Hs.153934 GDB:9955091 DKFZp313F2116|EHT|MTGR1|ZMYND3 protein-coding 1321512 CBFA2T3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 The t(16;21)(q24;q22) translocation is a rare but recurrent chromosomal abnormality associated with therapy-related myeloid malignancies. The translocation produces a chimeric gene made up of the 5'-region of the AML1 gene fused to the 3'-region of this gene. In addition, this gene is a putative breast tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene, and a brefeldin A-sensitive association of RII-alpha protein with one of the isoforms has been demonstrated in the Golgi apparatus. 1580863 9447981,16966434,15231665,14703694,14702039,12477932,12242670,12213200,12183414,11999578,11823486,9790752,9596646 863 NM_005187,NM_175931,AB013286,AC092384,AF052213,AF052214,AF052215,AF052216,AF052217,CH471184,AB010419,AB010420,AF052220,AK090985,AK097904,BC009554,BC047019,BC062624,BE243049,BE676580 NP_005178,NP_787127,BAA31276,BAA31277,AAC64702,AAC64701,EAW66746,EAW66747,EAW66748,EAW66749,EAW66750,EAW66751,EAW66752,BAA29061,BAA29062,AAC64698,AAH47019,AAH62624,O75081,ABZ92419 Hs.513811 GDB:9864258 ETO2|MTG16|MTGR2|ZMYND4 protein-coding 1320589 CBFB core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. 1599543 8351518,10856244,12217689,9751756,17571080,17379770,17287858,16767164,16504290,16502584,15585652,15489334,15386419,15138260,12495904,12477932,12434156,12239155,11276260,10958941,10914550,10536006,10404215,9447981,9264408,9191054,9064279,8889549,8889548,7622058,7607682,7587111,16189514,15243141,9751710 1599543 865 NM_022845,AC009084,AC074143,CH471092,AA020956,AF294326,AK290462,AK291834,BC018509,BM679848,BT006862,CR594690,CR608601,CR611500,CR614949,CR618498,L20298,NM_001755 NP_001746,NP_074036,EAW83066,EAW83067,EAW83068,EAW83069,EAW83070,EAW83071,AAG01553,BAF83151,BAF84523,AAH18509,AAP35508,AAA02868,Q13951,Q9HCT2,ABM92175,ABM84645 Hs.460988 GDB:250571 PEBP2B protein-coding 1345184 CBL Cas-Br-M (murine) ecotropic retroviral transforming sequence The cbl oncogene was first identified as part of a transforming retrovirus which induces mouse pre-B and pro-B cell lymphomas. As an adaptor protein for receptor protein-tyrosine kinases, it positively regulates receptor protein-tyrosine kinase ubiquitination in a manner dependent upon its variant SH2 and RING finger domains. Ubiquitination of receptor protein-tyrosine kinases terminates signaling by marking active receptors for degradation. 1580863 12218189,12593796,16407834,15465819,8621719,11823423,14505571,10567358,11894095,15475003,15962011,18273061,18235045,18070883,18048363,18045238,17804547,17702744,17675501,17675467,17635922,17620338,17475912,17372230,17237826,17094949,17082185,17003487,16964243,16955467,16735510,16503409,16289966,16246327,16228008,16094384,15951569,15878338,15872089,15824310,15728256,15708858,15635092,15592455,15337528,15273720,11891219,2030914,15190072,15159412,15128873,15001553,14738146,14702039,12881521,12815057,12802274,12696071,12522270,12504111,12496371,12486104,12477932,12475393,12435267,12244174,12234920,12177062,12176909,12149655,12135478,12061819,12024036,11997497,11997436,11994282,11964172,11904433,11894096,11847211,11826757,11741956,11713248,11696592,11687594,11494134,11278816,11263968,11239464,11149930,11133830,11067845,11053437,11032556,11024037,11001060,10966114,10635327,10608804,10570290,10531381,10514377,10449770,10427990,10374881,10204582,10092522,10078535,10074432,10068674,9989826,9857068,15210722,9712732,9675877,9622055,9603468,9590251,9535867,9489702,9407100,9367879,9200440,9178909,9162067,9108392,8810341,8780698,8702998,8663231,8662998,8635998,8083187,7881408,7657591,7629144,7603564,2013228,1565471,15892963,16356860,9174058,12935897,8798643,8641358,9234717,11896602,10907644,7629518,11313921,10540342,9223670,7721825,12727845,8621483,15735736,15135048,15782196 867 NM_005188,AP002956,CH471065,AK092300,BC132733,BG722940,X57110,X69207,AL832396,BX648139 NP_005179,EAW67476,BAC03854,AAI32734,CAA40393,P22681,Q8NAQ6 Hs.504096 GDB:119753 C-CBL|CBL2|RNF55 protein-coding 733798 CBLB Cas-Br-M (murine) ecotropic retroviral transforming sequence b 625457,1580863 7784085,18201552,17475912,17235393,17209142,17081983,16868939,16525057,16503409,16459459,16189514,15922296,15629882,15489334,15315962,15231748,14702039,15273720,14604964,12935897,12907674,12880961,12771181,12697763,12477932,12218189,12177062,12093870,11857085,11826757,11526404,11406619,11375397,11087752,11053437,10086340,10074432,10022120,9614102,9399639,8889548,16729043 625457 868 NM_170662,AC016138,AC112485,AC126185,CH471052,AA251219,AB075490,AK094184,AK123147,AK130668,AK292792,BC032851,BC065915,BQ188745,BX537484,BX649066,CR622009,CR749655,R78694,U26710,U26711,U26712 NP_733762,EAW79751,EAW79752,EAW79753,EAW79754,BAE45748,BAF85481,AAH32851,CAH56175,CAH18449,AAB09291,AAB09292,AAB09293,Q13191,Q68CY2,ABM85378,ABW03717 Hs.430589 GDB:638800 DKFZp686J10223|DKFZp779A0729|DKFZp779F1443|FLJ36865|FLJ41152|Nbla00127|RNF56 cas-br-m (murine) ectropic retroviral transforming sequence b protein-coding 1316966 CBLC Cas-Br-M (murine) ecotropic retroviral transforming sequence c CBL proteins, such as CBLC, are phosphorylated upon activation of a variety of receptors that signal via protein tyrosine kinases. Through interactions with proteins containing SRC (MIM 190090) homology-2 (SH2) and SH3 domains, CBL proteins modulate downstream cell signaling (Keane et al., 1999 [PubMed 10362357]).[supplied by OMIM] 1580863 12024036,10362357,15302935,15117950,14661060,12711395,12477932,12244174,12234920,12226085,12177062,10571044,10086340,9988270,9824625,16189514 23624 NM_012116,AC092066,CH471126,AB028645,AF117646,AF117647,BC028915 NP_036248,EAW57292,EAW57293,BAA86298,AAD34341,AAD34342,AAH28915,Q9ULV8,ABM82169,ABM85419 Hs.466907 GDB:11500158 CBL-3|CBL-SL|RNF57 protein-coding 1321764 CBLL1 Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 Epithelial cell cadherin (CDH1; MIM 192090) is endocytosed as a consequence of tyrosine phosphorylation and ubiquitination. HAKAI is an E3 ubiquitin ligase (see UBE3A; MIM 601623) that mediates ubiquitination of the CDH1 complex.[supplied by OMIM] 737633 12853948,15009096,14996930,12477932,11944035,11836526 737633 79872 NM_024814,AC002467,CH236947,CH471070,AK026762,BC027460,BC130529,BC130531,CR623864 NP_079090,AAS07390,EAW83416,EAW83417,BAB15544,AAH27460,AAI30530,AAI30532,Q75N03 Hs.592271 FLJ23109|HAKAI|MGC163401|MGC163403|RNF188 protein-coding 1348062 CBLN1 cerebellin 1 precursor Precerebellin is similar to the noncollagen domain of complement component C1qB. It gives rise to several truncated derivatives, including the hexadecapeptide cerebellin which is highly enriched in postsynaptic structures of cerebellar Purkinje cells in cartwheel neurons of the dorsal cochlear nucleus. 1580863 1704129,15489334,12477932,10688962,10022429,7877445,2760624 869 NM_004352,AC007614,CH471092,BC093692,BC093718,M58583 NP_004343,EAW82731,AAH93692,AAH93718,AAA35676,P23435 Hs.458423 GDB:456143 protein-coding 1320203 CBLN2 cerebellin 2 precursor 15489334,14702039,12975309,12477932,7877445 147381 NM_182511,AC011208,CH471117,CS208023,AK125422,AK291364,AY359074,BC035789,BC110843,BX409761 NP_872317,EAW66527,EAW66528,EAW66529,CAJ44937,BAF84053,AAQ89433,AAH35789,Q8IUK8 Hs.569851 GDB:456144 protein-coding 1343800 CBLN3 cerebellin 3 precursor 17030622,15340161,12975309,10964938 643866 NM_001039771,AL132800,AY359070,CD368047 NP_001034860,AAQ89429,Q6UW01 Hs.207603 PRO1486 protein-coding 1346675 CBLN4 cerebellin 4 precursor Cerebellin is a sixteen aa peptide found mainly in the adrenal medulla, where it has been shown to have a neuromodulatory function. Cerebellin is derived from precerebellin, a protein with sequence similarity to the noncollagen domain of complement component C1qB. The protein encoded by this gene is a glycoprotein which shares sequence similarity with precerebellin. 15489334,15340161,12975309,12477932,11780052 140689 NM_080617,AL117383,CH471077,AK289640,AY358527,BC047076,BC050026,BC069402,BC069488,BC069516,CD244520 NP_542184,CAB90173,EAW75567,BAF82329,AAQ88891,AAH50026,AAH69402,AAH69488,AAH69516,Q9NTU7 Hs.126141 CBLNL1 protein-coding 737546 CBR1 carbonyl reductase 1 Carbonyl reductase is one of several monomeric, NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds. This enzyme is widely distributed in human tissues. Another carbonyl reductase gene, CRB3, lies close to this gene on chromosome 21q. 1580863,1300048 9740676,17353931,17697149,17569794,17344335,15489334,12836057,12477932,12123751,11771743,11306092,10830953,10091578,8432528,8421682,7705364,7005231,3311025,3141401,3083821,2182121,1921984,1540623,1453004 873 NM_001757,AB003151,AP000688,AP001724,CH471079,EF141836,M62420,AB124848,AL548852,BC002511,BC015640,BT019843,CR541708,CR594171,CR604950,CR605960,CR607402,CR618962,CR626808,J04056 NP_001748,BAA33498,BAA95508,EAX09752,EAX09753,EAX09754,EAX09755,ABK97430,AAA17881,BAE45940,AAH02511,AAH15640,AAV38646,CAG46509,AAA52070,P16152,ABM83279,ABM86485 Hs.88778 GDB:126610 CBR|hCBR1 protein-coding 1320224 CBR3 carbonyl reductase 3 Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. 1580863 9740676,18457324,15537833,15489334,12477932,11592776,10830953,10728668,9503011,9373149,8125298,7705364 874 NM_001236,AB003151,AP000689,AP001725,CH471079,EF462915,AB004850,AB004854,AB041012,AB124847,AJ000096,AK223429,BC002812,CR541709 NP_001227,BAA34207,BAA89425,BAA95547,EAX09747,ABO43035,BAA33500,BAD74062,BAE45939,CAA03921,BAD97149,AAH02812,CAG46510,O60874,O75828,Q53F60,Q6FHP2 Hs.154510 GDB:9785817 hCBR3 protein-coding 1602997 CBR4 carbonyl reductase 4 14702039,12477932 84869 NM_032783,AC021151,CH471056,AK027337,AK291756,AL049442,AL833393,AV704400,BC021973,BC033650,BG119539,BQ230058,CR595317,W70279 NP_116172,EAX04797,EAX04798,BAB55045,BAF84445,CAH10582,AAH21973,AAH33650,Q8N4T8 Hs.659311 FLJ14431 protein-coding 737316 CBS cystathionine-beta-synthase The protein encoded by this gene is involved in the transsulfuration pathway. The first step of this pathway, from homocysteine to cystathionine, is catalyzed by this protein. CBS deficiency can cause homocystinuria which affects many organs and tissues, including the eyes and the skeletal, vascular and central nervous systems. 1600622,1600624,1600626,1600627,1359024,1580863,1300048 16375773,16363792,16328059,16274669,16259797,16205833,16189514,16115349,16013960,16007597,15975077,15972722,15922487,15889417,15772012,15755387,15748616,15719048,15554031,15544339,15520012,15503105,15489334,15365998,15354395,15228193,15082224,15009965,14977639,14670973,12889841,12855221,12815602,12725044,16422253,12649066,12642343,12529702,9590298,16780588,18447718,18427977,18398434,18203168,18060852,17993766,17956124,17891500,17726616,17686644,17621169,17553479,17548676,17540596,17436311,17352495,17327360,17319270,17311260,17311259,17160942,17119116,17087506,17035141,16953589,16941496,16792904,16791140,16709328,16601865,16541333,16505479,16479318,16470595,12477932,12439143,12427542,12413583,12393509,12379655,12269827,12228232,12186157,12180146,12173932,12154064,12124992,12082592,12020105,12015064,12007221,11872884,11758232,11748855,11672761,11575217,11528503,11483494,11457468,11434706,11359462,11359213,11341749,11310576,11292330,11204591,11173483,11149614,11074524,11013450,10830953,10791559,10462600,10434301,10408774,10338090,10215408,9889017,9790750,9466992,9383285,9361025,9266356,9156316,8990018,8803779,8755636,8528202,8353501,8022826,7981678,7967489,7903580,7849717,7762555,7635485,7611293,7598711,7564249,7506602,2894761,1301198,840498,681363,404147 1600622,1600624,1600626,1600627,1359024 875 BT007154,CR605513,CR613114,CR624541,L00972,L14577,L19501,X82166,NM_000071,AF042836,AP001630,CH471079,CQ779398,DQ191754,X88562,AL137314,BC000440,BC007257,BC010242,BC011381,BC012319 AAP35818,AAA98524,AAA19874,CAA57656,P35520,Q3LR94,Q96EH7,Q9NTF0,ABM81955,ABM85134,NP_000062,AAC64683,AAC64684,EAX09507,EAX09508,EAX09509,EAX09510,EAX09511,EAX09512,EAX09513,EAX09514,EAX09515,CAG14912,ABA28318,CAA61252,CAB70691,AAH00440,AAH07257,AAH10242,AAH11381,AAH12319 Hs.533013 GDB:119754 HIP4 cystathionine beta synthase protein-coding 1348830 CBWD1 COBW domain containing 1 17353931,15489334,15233989,15164053,12477932,12421752,11489251,10931946,10867487 55871 AL356244,AL449043,AF212253,AF257330,AK290648,AK315855,AY295766,AY320414,AY343911,BC005996,BC009573,NM_018491,BC013432,BC037212,BC132759,BU621970,CR590614,CR591843,CR609499,CR610931,CR614143 NP_060961,CAH70902,CAH70903,CAH70904,CAH70905,CAH70906,CAH70907,CAH70908,CAH70542,CAH70543,CAH70544,AAK14935,AAF68990,BAF83337,BAF98746,AAP73813,AAQ76869,AAH05996,AAH09573,AAH13432,AAH37212,AAI32760,Q9BRT8 Hs.531330,Hs.567539,Hs.645337 GDB:11508896 protein-coding 1352030 CBWD2 COBW domain containing 2 17353931,15233989,12477932,12421752,9373149,8125298,14743216 150472 NM_172003,XM_001716392,AC016745,AL078621,AF452722,AK124867,AK225251,AY343910,BC120991,BC120992,CR621231 NP_742000,XP_001716444,CAO03555,AAN64907,BAC85973,AAQ76868,AAI20992,AAI20993,Q5JTY0,Q5VY20,Q6ZV90,Q8IUF1,Q9NU40 Hs.531330 GDB:11508930 protein-coding 1343748 CBWD3 COBW domain containing 3 16341674,15233989,12477932,12421752 445571 NM_201453,AL353608,AY344633,BC069006,BM786305,BU622154,CR601704 NP_958861,CAI41162,CAI41163,CAI41164,CAI41165,CAI41166,CAI41167,AAQ76870,Q5JTY5,Q5JTY6,Q5RIB1,Q6VB91 Hs.597638,Hs.645337 bA561O23.1 protein-coding 1346367 CBWD4P COBW domain containing 4 pseudogene 445572 1601812 CBWD5 COBW domain containing 5 16344560,14702039,12477932,12421752,10867487,8889548 220869 NM_001024916,BX284632,AF065414,AF265442,AK092175,AK097639,AK292585,BC043420,BC067803,BC082271,BC141856,BM711778,DA288994,DB463072 NP_001020087,CAI14284,CAI14285,CAI14286,CAI14287,CAI14288,CAI14289,CAI14290,AAC17121,AAG44700,BAC05129,BAF85274,AAH43420,AAH67803,AAI41857,O60748,Q5JTY1,Q5RIA8,Q5RIA9,Q5RIB0,Q5RIB3,Q5RIB5,Q6NVZ8,Q9H2J8 Hs.355950,Hs.635227,Hs.645337,Hs.645504 DC36|FLJ34856|FLJ40320|FLJ77192|MGC167043|MGC44166 protein-coding 1602602 CBWD6 COBW domain containing 6 644019 NM_001085457,BX255923,AF293368,CR627025 NP_001078926,CAI94913,CAI94914,CAI94915,CAI94916,CAI94917,CAI94918,AAG10070,Q4V338,Q4V339,Q4V340,Q4V342,Q9HAZ6 Hs.597638,Hs.645337 DKFZp686L07117 protein-coding 1625817 CBWD7 COBW domain containing 7 9847074 728013 XM_001717050,AC129778 XP_001717102 Hs.355950 protein-coding 1321782 CBX1 chromobox homolog 1 (HP1 beta homolog Drosophila ) This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. 9169582,11242053,11101528,8287692,18438399,18239689,17575412,17081983,16615912,16547356,16344560,16169070,16127177,15947784,15899859,15635413,15489334,14651845,14585993,12867029,12711675,12560555,12560554,12477932,12414990,12054505,11959914,11882902,11790298,11336697,11242054,10882726,10747027,10562550,10549285,10460410,10202156,9454751,12111331,15120635,11793364 10951 DA020204,DA689514,DA781730,DB026977,U35451,NM_006807,NM_001127228,AC004477,AC006468,AF106801,CH471109,BC002609,BC021302,CB053834,CR456766,CR611707,CR617932 AAB81548,P83916,Q6IBN6,ABZ92300,NP_006798,NP_001120700,AAD21972,EAW94758,EAW94759,EAW94760,EAW94761,AAH02609,AAH21302,CAG33047 Hs.77254,Hs.648320 GDB:9958638 CBX|HP1-BETA|HP1Hs-beta|HP1Hsbeta|M31|MOD1|p25beta protein-coding 1342823 CBX2 chromobox homolog 2 (Pc class homolog, Drosophila) 1580863 2477932,1352241,16189514,15146197,12477932,10369680,9641679,7782071 84733 NM_005189,NM_032647,AC105337,CH471099,X77824,X77825,AL157459,BC004252,BC119759,BC119760,BX110913,CN367085,CN367087,CN367098 NP_005180,NP_116036,EAW89568,EAW89569,CAA54839,AAH04252,AAI19760,AAI19761,Q0VDA5,Q14781,AAI56119,AAI57075,ABZ92071 Hs.368410 GDB:344722 CDCA6|M33|MGC10561 protein-coding 1352044 CBX3 chromobox homolog 3 (HP1 gamma homolog, Drosophila) At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene. 1580863 8663349,9636147,11101528,11124534,18239689,18172013,17575412,17381543,17245432,17081983,16964243,16954381,16945326,16713569,16127177,16083285,15635413,15502821,15489334,15322135,15009096,12690205,12560555,12485163,12477932,12054505,12004135,11959914,11336697,11242053,10664448,10562550,10460410,10330177,9864353,9636146,9454751,9169472,15120635,11793364 11335 AF136630,AL542267,BC000954,BC014380,BX647444,BX648807,CR596733,CR597648,CR605399,CR617945,CR623845,NM_007276,NM_016587,AC010677,CH236948,CH471073,AB030905,U26312 BAA83340,AAF62370,AAH00954,AAH14380,NP_009207,NP_057671,EAL24235,EAW93842,EAW93843,EAW93844,EAW93845,EAW93846,AAB48101,Q13185 Hs.381189,Hs.706294 GDB:9957998 HECH|HP1-GAMMA|HP1Hs-gamma protein-coding 2291773 CBX3P1 chromobox homolog 3 pseudogene 1 10763413 159770 NG_001315,AC103796,AF063304 pseudo 1348844 CBX4 chromobox homolog 4 (Pc class homolog, Drosophila) 1580863 9315667,9367786,18178578,17081983,17018294,16061479,15710417,15592428,15489334,12679040,12477932,12167701,12101246,11583618,9858600,9858531,9199346,16189514,12829790,14638676,14576168,15563468 8535 NM_003655,AC100791,CH471099,AF013956,AI796748,AY390430,BC014967,BG029608,BQ225831,CR616461,EU439707,U94344 NP_003646,EAW89572,EAW89573,AAB80718,AAQ97596,AAH14967,ACA49234,AAB62734,O00257,Q6TPI8 Hs.405046 GDB:9865692 NBP16|PC2|hPC2 protein-coding 1315340 CBX5 chromobox homolog 5 (HP1 alpha homolog, Drosophila) This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 9636147,9864353,15502821,8663349,18264112,17470536,17381543,17213182,17101789,16762841,16648629,16487625,16189514,16127177,15899859,15882967,15635413,15489334,15454574,15342556,15196694,14730304,14585993,12867029,12711603,12692243,12565857,12560555,12485163,12477932,12414990,12411497,12242305,12154074,12054505,11959914,11942629,11336697,11242054,11242053,11112778,10938122,10882726,10562550,10460410,9454751,9169472,8864858,8505380,11484059,12697822,10549285,15120635,11793364,11799066,11516652,15723802 23468 NM_012117,NM_001127321,NM_001127322,AC078778,CH471054,AF147443,AK313506,BC006821,BC030149,BP236173,BP336150,CR457418,CR605190,CR605673,DT217255,L07515,S62077,U26311 NP_036249,NP_001120793,NP_001120794,EAW96758,EAW96759,EAW96760,BAG36286,AAH06821,CAG33699,AAA72327,AAB26994,AAC50553,P45973,Q6I9T7,ABZ92153,ABZ92313 Hs.349283,Hs.632724 GDB:9956600 HP1|HP1A protein-coding 1316437 CBX6 chromobox homolog 6 1580863 15489334,14702039,12477932,10591208 23466 NM_014292,AL008583,CH471095,AK094829,AK293035,BC012111,BC064900,CD625491,CR592957,CR621248 NP_055107,CAA15431,EAW60276,BAF85724,AAH12111,AAH64900,O95503,ABM84593,ABM86713 Hs.592201 GDB:9956596 protein-coding 1353483 CBX7 chromobox homolog 7 1580863 17374722,15897876,15489334,14647293,12477932,10591208 23492 NM_175709,AL031846,CH471095,BC051773,BC128418,CR594018,DQ064603 NP_783640,CAB36555,EAW60297,EAW60298,EAW60299,EAW60300,EAW60301,AAH51773,AAY68391,O95931,Q4PNR6,ABZ92314 Hs.356416 GDB:9956642 protein-coding 1351003 CBX8 chromobox homolog 8 (Pc class homolog, Drosophila) 1580863 17332741,16169070,15489334,15009096,14702039,12477932,12167701,11439343,11313972,10825164 57332 NM_020649,AC100791,CH471099,AF174482,AF266479,AK074560,BC008937,BC009376,BC019289,CR591848,CR600853 NP_065700,EAW89571,AAG09180,AAF76328,BAC11061,AAH08937,AAH09376,AAH19289,Q9HC52,ABZ92360 Hs.387258 GDB:11500157 HPC3|PC3|RC1 protein-coding 1348208 CBX9 chromobox homolog 9 285320 XM_210557 1343969 CBY1 chibby homolog 1 (Drosophila) Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12712206,15194699,17403895,16713569,16570344,15489334,15461802,15245581,12529303,12477932,11337467,11230166,10591208,17905836 25776 NM_001002880,NM_015373,AL021707,BK005534,CH471095,AB015347,AB111855,AF331041,AL050345,AL136686,AU099418,BC008839,BC016139,CD626926,CD702742,CR456410,CR602591,CR610817,CR619995 NP_001002880,NP_056188,DAA05582,EAW60254,EAW60255,EAW60256,BAA88119,BAC78839,AAL56062,CAB43547,CAB66621,AAH16139,CAG30296,Q9Y3M2 Hs.334911,Hs.596584,Hs.700647 C22orf2|CBY|HS508I15A|PGEA1|PIGEA-14|PIGEA14|arb1 pkd2 interactor, golgi and endoplasmic reticulum associated 1 protein-coding 1605449 CBY3 chibby homolog 3 (Drosophila) 646019 XM_928982,XM_001724133,XM_936994,AC136604 XP_934075,XP_001724185,XP_942087 protein-coding 1606546 CC2D1A coiled-coil and C2 domain containing 1A 12761501,17714190,17535813,17394259,16964243,16033914,15592455,15534042,15489334,14756806,14702039,14569116,12477932 54862 NM_017721,AC020916,CH471106,AB097002,AF536205,AK000248,AK023399,AK026371,AK123155,BC006556,BC048345,BC064981,BC113968,CR608350 NP_060191,EAW84380,BAC77355,AAN04488,BAA91029,BAB14561,BAB15464,AAH48345,AAH64981,AAI13969,Q6P1N0,Q9H8P7,Q9NX28 Hs.269592 FLJ20241|FLJ41160|FREUD-1|MRT3 protein-coding 1603884 CC2D1B coiled-coil and C2 domain containing 1B 17084357,15146197,14702039,12477932,11347906 200014 NM_032449,AL513218,CH471059,AB058739,AK093605,AK095487,AK130874,BC007912,BC014080,BC016880,BC039308,BX337298,CN279193 AAH16880,NP_115825,CAI12281,CAI12282,CAI12283,CAI12284,EAX06785,EAX06786,EAX06787,EAX06788,EAX06789,BAB47465,BAC85450,AAH07912,AAH39308,Q5T0F9,Q5T0G1 Hs.591451 KIAA1836|RP11-155O18.2 protein-coding 2289739 CC2D2A coiled-coil and C2 domain containing 2A 18387594,14702039,12477932,10718198 57545 NM_001080522,AC007016,AC116651,AB037766,AK023876,AK025543,AK096047,BC053865,BC070395,BC103710,BX647334,CR602853,CR622306 NP_001073991,BAA92583,BAB14710,AAI03711,Q9P2K1 Hs.590928 KIAA1345 protein-coding 1321297 CC2D2B coiled-coil and C2 domain containing 2B 15489334,15164054,12477932 387707 NM_001001732,AL356155,AL513355,CH471066,AK123423,BC075861 NP_001001732,CAM22929,EAW49985,BAC85613,AAH75861,Q6DHV5,Q6ZW91 Hs.652240,Hs.712014 C10orf130|bA248J23.4 protein-coding 1345009 CCA1 cataract, congenital, cerulean type, 1 7704021 878 GDB:118763 1345688 CCAL1 chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early onset osteoarthritis) 7887424 882 GDB:512892 1345566 CCAR1 cell division cycle and apoptosis regulator 1 737633,1580863 12226669,18382127,17513614,17081983,16543231,15489334,15302935,15164054,15069192,14743216,14702039,12816952,12477932 737633 55749 NM_018237,AL391539,AL513534,CH471083,AF465616,AK000741,AK001701,AK023438,AK122871,AK292649,AY249140,BC015475,BC026036,BC058846,BC089420,BC108682,BC130626,BC132725,BM786237,BM905703,BU181074,BX647943,CB136079 NP_060707,CAH73835,CAH70221,EAW54300,EAW54301,EAW54302,AAO17319,BAA91354,BAA91847,BAB14574,BAF85338,AAP82002,AAH15475,AAH26036,AAH89420,AAI08683,AAI30627,AAI32726,Q5EBM3,Q8IX12 Hs.49853 CARP-1|CARP1|MGC44628|RP11-437A18.1 protein-coding 1349229 CCAT cataract, congenital 880 GDB:118738 1349047 CCBE1 collagen and calcium binding EGF domains 1 18466450,14702039,12975309,12477932,11853319 147372 NM_133459,AC010776,AC016229,AC090213,CH471096,AB075863,AF087966,AK055243,AY358347,BC046645,BX640826,CR612948 NP_597716,EAW63100,EAW63101,BAB85569,AAQ88713,AAH46645,CAE45902,Q6UXH8 Hs.34333 FLJ30681|MGC50861 protein-coding 1315794 CCBL1 cysteine conjugate-beta lyase, cytoplasmic This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. 1580863 16828464,16463021,16376499,16344560,15489334,15164053,15016471,14702039,12477932,10369878,8968194,8736988,7814371,2139845,16189514,7883047,17207965 883 NM_004059,NM_001122671,NM_001122672,AL441992,AL672142,CH471090,Y17447,Y17448,AK094505,AK291178,AK314427,AU123740,AW073815,BC013069,BC021262,BC022468,BC033685,BI755163,BU622726,CR606096,CR619510,DA381449,EL733697,X82224 NP_004050,NP_001116143,NP_001116144,CAI15414,CAI15415,CAI15416,CAI15417,CAI15418,EAW87840,EAW87841,CAB44342,CAB44343,BAF83867,BAG37043,AAH13069,AAH21262,AAH33685,CAA57702,Q16773,Q5T275,Q5T276,Q5T278,Q96E07,Q9UQN6,Q9UQN7 Hs.495250 GDB:568380 FLJ95217|GTK|KAT1|KATI|MGC29624 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase k, kyneurenine aminotransferase) protein-coding 1606260 CCBL2 cysteine conjugate-beta lyase 2 This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. One of the transcripts encodes a predicted protein that has sequence identity to the protein encoded by the RNA binding motif protein, X-linked gene (RBMX). 16201836,16376499,14702039,12477932,11181995,10441733,8889548 56267 AL833593,AY028624,NM_001008661,NM_019610,AL139416,BC000819,BC012942,BM728982,CR450282,CR608245,CR614429,CR615627,CR627392,AL445991,CH471097,DQ120650,AF091090,AI478599,AK057176,AL832554,AL832785,NM_001008662 AAK26163,NP_001008662,NP_001008661,NP_062556,AAH00819,AAH12942,CAG29278,CAH10487,Q2VIN3,Q5T9T9,Q6YP21,Q96E39,CAI21693,CAI21694,CAI21695,CAI21696,EAW73154,EAW73155,EAW73156,EAW73157,EAW73158,ABB92435,AAC72959,CAI46148 Hs.481898 DKFZp547N1117|DKFZp667D0223|KAT3|MGC9398|RBM1|RBMXL1|RP11-82K18.3|RP4-531M19.2 protein-coding 1353783 CCBP2 chemokine binding protein 2 This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. 632634,1580863 9364936,18201974,17607362,16814608,16344560,15489334,15084596,12671049,12594248,12477932,12406880,11821900,11238036,10781587,10725697,10725696,10706668,10702689,10364178,9405404,9139699,16014924,16189514 632634 1238 BE901130,BT006800,CR610139,DA853159,U94888,Y12815,AC099329,NM_001296,AF481959,AY262687,CH471055,BC008816,BC011588,BC011631,BC018716,BC020558,BC101629,BC112045 AAP35446,AAB97728,CAA73346,O00590,Q7Z7I1,NP_001287,AAP42156,AAP20651,EAW64678,EAW64679,EAW64680,EAW64681,AAH08816,AAH11631,AAH20558,AAI01630,AAI12046 Hs.709607 GDB:9836460 CCR10|CCR9|CMKBR9|D6|MGC126678|MGC138250|hD6 protein-coding 1601819 CCDC100 coiled-coil domain containing 100 16344560,14702039,12477932 153241 NM_153223,AC010369,AC106792,CH471086,AK093409,AK095646,AL833929,BC040527,BX648687,CR627324,DB092908 NP_694955,EAW48873,EAW48874,EAW48875,BAC04155,BAC04596,CAD38785,AAH40527,CAH10561,CAH10371,Q6AI52,Q6AW89,Q8IWB5,Q8N960,Q8N9Y0,Q8NDE8 Hs.483209 DKFZp686I06246|FLJ36090|FLJ38327 protein-coding 1604249 CCDC101 coiled-coil domain containing 101 16189514,15489334,14702039,12477932 112869 NM_138414,AC020765,CH471279,AK057008,BC011981 NP_612423,EAW52272,BAB71340,AAH11981,Q96ES7 Hs.655476 FLJ32446 protein-coding 1605307 CCDC102A coiled-coil domain containing 102A 15489334,12477932 92922 NM_033212,AC004382,CH471092,BC004307,BC008285,BC009941 NP_149989,EAW82935,AAH04307,AAH08285,AAH09941,Q96A19,ABM83575,ABM86814 Hs.644611 MGC10992|MGC13119 protein-coding 1344849 CCDC102B coiled-coil domain containing 102B 16344560,15489334,14702039,12477932,9373149,8125298,1707030 79839 NM_001093729,NM_024781,AC011087,AC022035,AC040896,AC096708,CH471117,AK027247,AK057282,AK091108,AK225597,AL833863,BC056269,BC126448,BC126450,BQ003970,CK823962,CR749520,DB020599,DC380577,DC382329 NP_001087198,NP_079057,EAW66511,EAW66512,BAB15706,CAD38721,AAH56269,AAI26449,AAI26451,CAH18334,Q68D86 Hs.280781 ACY1L|AN|C18orf14|DKFZp434K1426|DKFZp686I08254|FLJ23594|HsT1731|MGC161726|MGC161728 protein-coding 1602038 CCDC103 coiled-coil domain containing 103 15489334,14702039,12477932 388389 NM_213607,AC015936,CH471178,AK023156,AK091530,AK289760,BC041060 NP_998772,EAW51572,BAF82449,AAH41060,Q8IW40 Hs.514222 FLJ13094|FLJ34211 protein-coding 1603927 CCDC104 coiled-coil domain containing 104 15815621,15489334,12975309,12477932 112942 NM_080667,AC015982,AC019198,CH471053,AY358097,BC010011,BM993564,CR612291 NP_542398,AAY24269,AAY14933,EAX00097,EAX00098,AAQ88464,AAH10011,Q96G28,ABM84008,ABM87342 Hs.264208 MGC15407 protein-coding 1602986 CCDC105 coiled-coil domain containing 105 14702039,12477932 126402 NM_173482,AC004659,AC104528,CH471106,AK097684,AL833847,BC035678 NP_775753,EAW84458,BAC05142,CAD38706,AAH35678,Q8IYK2 Hs.375985 FLJ40365 protein-coding 1607037 CCDC106 coiled-coil domain containing 106 15790807,15489334,14702039,12477932,9110174,8619474 29903 NM_013301,AC008735,CH471135,AF054984,AK097095,AY927563,AY927628,BC000412,BC008956,BI907663,CR450308,CR593563,CR597631,CR604697,CR605840,CR608767,CR610458,CR611450,CR612899,CR622650,U79303 NP_037433,EAW72401,AAH00412,AAH08956,CAG29304,AAB50227,Q9BWC9,ABZ92128 Hs.82482 HSU79303|ZNF581 protein-coding 1605844 CCDC107 coiled-coil domain containing 107 16713569,15489334,15164053,12477932 203260 NM_174923,AL357874,CH471071,AK075523,BC018758,BC051285,CR619888,DQ884403 NP_777583,CAI13447,CAI13448,CAI13449,CAI13450,CAI13451,EAW58364,EAW58365,EAW58366,EAW58367,EAW58368,EAW58369,BAC11669,AAH18758,AAH51285,ABI63370,Q8WV48,ABM82866,ABM86052 Hs.708163 MGC31967|RP11-331F9.6 protein-coding 1606123 CCDC108 coiled-coil domain containing 108 12477932 255101 NM_194302,NM_152389,AC097468,AK123235,AK125957,AK127189,AL048936,AL833882,BC031585,BC039688,BC047637,BC130281,BG723301,BX649039 NP_919278,NP_689602,AAX88919,BAC85566,BAC86362,BAC86878,CAD38738,AAH31585,AAH47637,AAI30282,Q49A14,Q4ZFW9,Q6ZU64,Q6ZWD7 Hs.147762 DKFZp434O0527|MGC35338 protein-coding 1343502 CCDC109A coiled-coil domain containing 109A 15489334,12477932 90550 NM_138357,AC016542,AC069548,CH471083,AK025699,AK075439,AK128016,BC010682,BC034235 NP_612366,EAW54460,EAW54461,EAW54462,AAH10682,AAH34235,Q8NE86,Q9H728 Hs.591366 C10orf42|FLJ46135 protein-coding 1602886 CCDC109B coiled-coil domain containing 109B 15489334,14702039,12477932 55013 NM_017918,AC004067,AC105314,CH471057,AK000654,AK095936,AK291098,AL832311,BC002633,CR457234 NP_060388,EAX06242,EAX06243,BAA91309,BAF83787,AAH02633,CAG33515,Q9NWR8 Hs.234149 FLJ20647 protein-coding 1344036 CCDC11 coiled-coil domain containing 11 737633 15489334,14702039,12477932,16189514 737633 220136 NM_145020,AC090246,CH471096,AK057305,BC030606 NP_659457,EAW62960,EAW62961,BAB71418,AAH30606,Q96M91 Hs.658630 FLJ32743 protein-coding 1606416 CCDC110 coiled-coil domain containing 110 15489334,15447989,14702039,12477932 256309 NM_152775,AC106897,CH471056,AB080722,AK097605,AL833337,BC028419,BC038515,BX641119 NP_689988,EAX04642,EAX04643,BAC81776,BAC05116,AAH28419,AAH38515,Q8TBZ0,ABM85671 Hs.41101 KM-HN-1|KMHN1|MGC33607 protein-coding 1605846 CCDC111 coiled-coil domain containing 111 15489334,14702039,12477932 201973 AC079257,NM_152683,CH471056,AK057729,BC018930,BC047467,BC064600,BX647575,CR606183 EAX04668,NP_689896,EAX04667,EAX04669,EAX04670,EAX04671,EAX04672,BAB71553,AAH64600,CAI46079,Q96LW4 Hs.481307 FLJ33167 protein-coding 1606143 CCDC112 coiled-coil domain containing 112 16189514,15146197,12477932,8889548 153733 NM_001040440,NM_152549,AC008494,CH471086,AJ580807,BC031242,BM873447,BM873516,BM975079,CN310912,CR604116,CX786155,DB451908,DB455340,DB476530 NP_001035530,NP_689762,EAW48966,EAW48967,CAE45342,AAH31242,Q8NEF3 Hs.436121 MBC1|MGC39633 protein-coding 1606018 CCDC113 coiled-coil domain containing 113 11256614,16381901,15489336,15489334,12477932,11230166,11076863,11042152 29070 NM_014157,AC009107,CH471092,AF161550,AK027208,AL136785,BC126445,BC126447,CR533506 NP_054876,EAW82970,AAF29037,BAB15692,CAB66719,AAI26446,AAI26448,CAG38537,Q9H0I3,Q9H5D5,CAL37709 Hs.11614 DKFZP434N1418|FLJ23555|HSPC065 protein-coding 1602080 CCDC114 coiled-coil domain containing 114 14702039,12477932 93233 NM_144577,AC008392,CH471177,AK057357,AK057488,AK128144,AL122083,BC007730,BC025752,BC031619,BC117431,BC117433 NP_653178,EAW52327,EAW52328,EAW52329,EAW52330,EAW52331,EAW52332,BAB71448,BAB71508,BAC87296,CAB59257,AAI17432,AAI17434,Q96M63 Hs.112645 FLJ32926 protein-coding 1603946 CCDC115 coiled-coil domain containing 115 14702039,12477932 84317 NM_032357,AC132479,CH471263,AK054693,AK124405,BC006429,CR591728,CR600871,CR603465,CR618993,CR621252,CR626420 NP_115733,AAY24075,EAW55610,EAW55611,EAW55612,BAB70794,AAH06429,Q96NT0 Hs.104203 FLJ30131|MGC12981|ccp1 protein-coding 1602289 CCDC116 coiled-coil domain containing 116 16396496,16189514,15489334,14702039,12477932 164592 NM_152612,AP000553,CH471095,AK093365,BC033499 NP_689825,EAW59465,EAW59466,BAC04145,AAH33499,Q8IYX3 Hs.131615 FLJ36046 protein-coding 1602294 CCDC117 coiled-coil domain containing 117 15489334,15461802,14702039,12477932,10591208 150275 Z93930,AK091133,AK092636,AK289516,BC040488,BC053874,BC065549,CR456461,NM_173510,AL023494,CH471095,CS185626 CAJ42807,CAI17952,BAC03592,BAF82205,AAH40488,AAH53874,AAH65549,CAG30347,Q8IWD4,NP_775781,CAI20338,EAW59761,EAW59762 Hs.406460 FLJ33814|dJ366L4.1 protein-coding 1343271 CCDC12 coiled-coil domain containing 12 737633 15489334,14702039,12477932 737633 151903 NM_144716,AC094020,AC109583,CH471055,AK096749,BC020830 NP_653317,EAW64795,EAW64796,EAW64797,EAW64798,EAW64799,BAC04857,AAH20830,Q8WUD4 Hs.631918 FLJ39430|MGC23918 protein-coding 1606197 CCDC120 coiled-coil domain containing 120 16189514,15489334,14702039,12477932 90060 NM_033626,AF196779,CH471224,AK001937,AK056290,AK125424,AK291370,AK315837,BC008769 NP_296375,EAW50708,EAW50709,EAW50710,BAB71140,BAF84059,BAF98728,AAH08769,Q96HB5,Q96MX9,ABM83863,ABM84608,ABM87185,ABM87192,ABW03839,ABW03534 Hs.522643 JM11 protein-coding 1603009 CCDC121 coiled-coil domain containing 121 14702039,12477932 79635 NM_024584,AC074091,CH471053,AK023708,AK124337,AK125354,BC056244,BC066936,BC066969 NP_078860,AAX93200,EAX00561,BAB14651,BAC86143,AAH66936,AAH66969,Q6ZUS5 Hs.21081 FLJ13646|FLJ43364 protein-coding 1602063 CCDC122 coiled-coil domain containing 122 17672918,16344560,14702039 160857 NM_144974,AL512506,CH471075,AK056408,AW373287,CA427248,DA739121 NP_659411,CAI16114,EAX08697,EAX08698,EAX08699,EAX08700,BAB71178,Q5T0U0 Hs.170849 FLJ31846 protein-coding 1605924 CCDC123 coiled-coil domain containing 123 16395595,14702039,12477932 84902 NM_032816,AC008805,AC011449,AC119048,AK027546,AL832158,BC020195,BC029978,BC032307,BE208545,BU196203,BU628988,BU630455,CR593458 NP_116205,BAB55190,AAH20195,AAH32307,Q8WUL5,Q96ST8 Hs.599703 FLJ14640 protein-coding 1605304 CCDC124 coiled-coil domain containing 124 15489334,12477932 115098 NM_138442,AC005602,AC011540,CH471106,AF086307,BC013949 NP_612451,EAW84644,EAW84645,AAH13949,Q96CT7 Hs.100043 protein-coding 1604973 CCDC125 coiled-coil domain containing 125 12477932 202243 NM_176816,AC145132,AC145145,CH471137,AB024691,AB024692,AI141520,AL832658,BC108715,BC113749,BQ923745 NP_789786,EAW51298,EAW51299,BAC57450,BAC57451,AAI13750,Q2HJ12,Q86Z20 Hs.654850 KENAE protein-coding 1602081 CCDC126 coiled-coil domain containing 126 12975309,12690205,12477932,9847074 90693 NM_138771,AC006026,CH236948,CH471073,AK026684,AK289911,AL598772,AY358713,BC012427,BC104638 NP_620126,AAQ96871,EAL24252,EAW93792,EAW93793,EAW93794,EAW93795,EAW93796,BAF82600,AAQ89075,AAH12427,AAI04639,Q96EE4 Hs.232296 FLJ23031|MGC104248 protein-coding 1603363 CCDC127 coiled-coil domain containing 127 15489334,15231748,14702039,12477932,16189514 133957 NM_145265,AC021087,CH471235,AK098567,BC015349,CR602658,CR603714,CR608728,CR609137,CR614339,CR615991 NP_660308,EAW50981,BAC05336,AAH15349,Q96BQ5 Hs.294145 FLJ25701 protein-coding 1605582 CCDC128 coiled-coil domain containing 128 14702039,12477932 129285 NM_152994,AC093635,CH471053,AK122900,AK172753,AK172762,AY092062,AY134855,BC011978,BC040721,BC111059,BC117279 NP_694539,AAX93161,EAX00197,EAX00198,EAX00199,EAX00200,EAX00201,BAD18739,BAD18745,AAN08625,AAH11978,AAH40721,AAI11060,AAI17280,Q6ZMI0 Hs.654619 FLJ16566|MGC111781 protein-coding 1604967 CCDC129 coiled-coil domain containing 129 14702039,12477932 223075 NM_194300,AACC02000087,AC005090,AC006044,AK095663,AK128026,BC132719 NP_919276,EAL24442,BAC87235,AAI32720,Q6ZRS4 Hs.224269 FLJ38344 protein-coding 1350707 CCDC13 coiled-coil domain containing 13 737633 15489334,12477932,8889548 737633 152206 NM_144719,AC006059,AC099329,CH471055,BC036050,BM664398,AK058196 NP_653320,EAW64669,EAW64670,AAH36050,Q8IYE1,Q96LI1,EAW64671,BAB71711 Hs.7917 FLJ25467 protein-coding 1604584 CCDC130 coiled-coil domain containing 130 16189514,3203696,17081983,15489334,14702039,12477932 81576 NM_030818,AC008686,CH471106,X13956,AF250306,AK098262,BC002905,CR594316,CR594740,CR598416,CR617165,CR618086,CR618784,CR620805 NP_110445,EAW84367,EAW84368,CAA32138,AAK37425,AAH02905,P13994 Hs.24998 MGC10471 protein-coding 1606690 CCDC131 coiled-coil domain containing 131 12477932,9628581,16189514 196441 NM_144982,AC073612,AC078860,CH471054,AB011118,AI015547,AK125035,BC015679,BC064336,BC073843,BX647709 NP_659419,EAW97260,EAW97261,EAW97262,EAW97263,EAW97264,BAA25472,BAC86028,AAH15679,AAH64336,AAH73843,O60293,AAI52904,AAI56733 Hs.527874 DKFZp686A0722|KIAA0546|MGC23401|MGC90200|PSRC2 protein-coding 1604352 CCDC132 coiled-coil domain containing 132 14702039,12853948,12690205,12477932,11347906 55610 NM_017667,NM_024553,AC002379,AC002453,CH236949,CH471091,AA724937,AB058764,AK000104,AK027234,AK055965,AK126478,AL832393,AL833112,BC017888,BC035984,BC047757,BC108708,BC132740,BC132742,BC152424,CB985373,CR597934 NP_060137,NP_078829,AAS02013,AAS02014,AAS02023,EAL24143,EAW76815,EAW76816,EAW76817,EAW76818,EAW76819,EAW76820,EAW76821,BAB47490,BAA90948,BAB15701,CAI46135,AAH17888,AAH47757,AAI08709,AAI32741,AAI32743,AAI52425,Q5JPD9,Q75N11,Q75N12,Q86TJ6,Q96JG6,Q9NXR2,AAI60012 Hs.222282 FLJ20097|FLJ23581|KIAA1861|MGC176659 protein-coding 1605621 CCDC134 coiled-coil domain containing 134 16713569,15489334,15461802,14702039,12477932,10591208 79879 NM_024821,AL021453,CH471095,AK026002,BC017693,BX473493,CA420664,CR456484 NP_079097,CAI22916,EAW60468,BAB15315,AAH17693,CAG30370,Q9H6E4 Hs.474991 FLJ22349|MGC21013|dJ821D11.3 protein-coding 1604275 CCDC135 coiled-coil domain containing 135 11256614,14702039,12477932,11230166 84229 NM_032269,AC018552,CH471092,AK093035,AK093822,AK292558,AL136907,BC030661,BC036667 NP_115645,EAW82947,EAW82948,EAW82949,BAC04026,BAF85247,CAB66841,AAH36667,Q0JTH0,Q8IY82 Hs.513635 C16orf50|DKFZp434I099 protein-coding 1604321 CCDC136 coiled-coil domain containing 136 15231747,16713569,15112360,14702039,12690205,12477932,11347906 64753 NM_022742,AC024952,AC025594,CH236950,CH471070,AB058696,AK023500,AK124447,AL133027,BC070114,BC109220,BC150331,BC152408,CR595997 NP_073579,EAL24111,EAW83681,EAW83682,EAW83683,EAW83684,EAW83685,EAW83686,EAW83687,EAW83688,BAB47422,BAB14590,BAC85854,CAB61359,AAI50332,AAI52409,Q32MA8,Q96JN2 Hs.521178 DKFZP434G156|MGC129657|MGC176632|NAG6 protein-coding 1625086 CCDC137 coiled-coil domain containing 137 12477932 339230 NM_199287,AC139530,CH471099,BC009369,BC052272,BM548065,CR596466,CR606833 NP_954981,EAW89669,AAH09369,Q6PK04 Hs.405942 MGC16597 protein-coding 1626254 CCDC137P coiled-coil domain containing 137 pseudogene 642802 XR_016200 Hs.693398 pseudo 1603550 CCDC138 coiled-coil domain containing 138 14702039,12477932 165055 NM_144978,AC010095,AC073415,CH471182,AK057307,AK125199,BC015847,BC038421,BC050579 NP_659415,AAY14985,AAX88855,EAW53870,EAW53871,EAW53872,EAW53873,BAB71420,BAC86081,AAH15847,AAH50579,Q96M89 Hs.362702 FLJ32745 protein-coding 1348740 CCDC14 coiled-coil domain containing 14 737633 16713569,16344560,16189514,15342556,15146197,14702039,12477932 737633 64770 NM_022757,AC117381,CH471052,AA743688,AI435151,AK022954,AK027607,AK123060,AK307847,AL122079,AL833312,BC020246,BC040285,BC042613,BG621278,BP213762,BP382977,BX537652,CN424790,CR619506,DA031063,DB037501,DB306263,DB471090 NP_073594,EAW79429,EAW79430,EAW79431,EAW79432,EAW79433,EAW79434,BAB14329,BAB55229,CAB59254,CAD91162,AAH20246,AAH40285,AAH42613,CAD97804,Q49A88 Hs.656256 DKFZp434L1050|FLJ12892|FLJ41065 protein-coding 1602834 CCDC140 coiled-coil domain containing 140 14702039,12477932 151278 NM_153038,AC010980,CH471063,AK057009,BC109388 NP_694583,AAY14901,EAW70798,BAB71341,AAI09389,Q96MF4 Hs.350729 FLJ32447|MGC133159 protein-coding 1606113 CCDC141 coiled-coil domain containing 141 12812986,14702039,12477932 285025 NM_173648,AC023270,AC093792,CH471058,AK096821,AK129847,BC108697,BC115378,BX649042 NP_775919,AAX88845,EAX11011,EAX11012,BAC04869,BAC85242,AAI08698,AAI15379,Q2VPJ5,Q6ZP82,Q8N8H3 Hs.324341 FLJ26337|FLJ39502|MGC134803 protein-coding 1606203 CCDC142 coiled-coil domain containing 142 16303743,14702039,12477932 84865 NM_032779,AC005041,CH471053,CS051387,AK027303,AK075543,BC117269 NP_116168,EAW99650,CAI72188,BAB55027,BAC11686,AAI17270,Q17RM4 Hs.430199 FLJ14397 protein-coding 1626599 CCDC144A coiled-coil domain containing 144A 12477932,11997339,9628581 9720 NM_014695,AC098850,AB011137,AK125971,BC034617,BC133019 NP_055510,BAA25491,BAC86369,AAI33020,A2RUR9 Hs.419859 FLJ43983|KIAA0565|MGC164650 protein-coding 1605248 CCDC144B coiled-coil domain containing 144B 14702039,12477932,11997339 284047 NM_182568,XM_001718183,AC026271,AC107983,AK093811,BC062767,BC101585,BC104815,BX647826,EF553518 NP_872374,XP_001718235,BAC04228,AAH62767,AAI01586,AAI04816,ABQ66264,Q3MJ40 Hs.419859,Hs.649499 FLJ36492|MGC126634 protein-coding 1626596 CCDC144C coiled-coil domain containing 144C 12477932,11997339 348254 AC008088,AC015818,BC036241 AAH36241,Q8IYA2 Hs.652797 KIAA0565 protein-coding 1605975 CCDC146 coiled-coil domain containing 146 16344560,14702039,12477932,10819331 57639 BX649000,NM_020879,AC007000,AC073635,AC098851,CH471091,AB040938,AF461817,AK056542,AK292491,BC029458,BC036053,DB099681 NP_065930,EAW77041,EAW77042,EAW77043,EAW77044,BAA96029,AAP97709,BAB71211,BAF85180,AAH29458,AAH36053,Q7Z4Q3,Q8IYE0,Q8N2Z6,Q96MS1 Hs.113940 KIAA1505 protein-coding 1317458 CCDC147 coiled-coil domain containing 147 15489334,15164054,14702039,12477932 159686 NM_001008723,AL162742,AL355378,CH471066,AK093227,BC036225,BC109126,BX641120 NP_001008723,CAC16041,CAI12110,CAI15667,EAW49593,EAW49594,EAW49595,BAC04102,AAH36225,AAI09127,Q5T655,Q9H4Y4 Hs.253576 C10orf80|FLJ35908|MGC126475|RP11-554P13.1|bA127L20.4|bA127L20.5|bA554P13.1 protein-coding 1604533 CCDC148 coiled-coil domain containing 148 14702039,12477932 130940 NM_138803,AC008070,AC019044,AC069146,CH471058,AF458588,AK058105,AK123220,BC015395,BC031994,BC105928,BC107596,BC107597 NP_620158,AAX88983,AAX88933,EAX11434,EAX11435,AAM49716,BAB71668,AAH15395,AAI05929,AAI07597,AAI07598,Q8NFR7 Hs.668597 MGC125588|MGC125590 protein-coding 1606995 CCDC149 coiled-coil domain containing 149 17457313,12477932 91050 NM_173463,AC006390,AC113614,AC116422,CH471069,AK125353,AL834257,BC057761,BC067735,CR610515 NP_775734,EAW92824,EAW92825,EAW92826,BAC86142,CAD38932,AAH57761,AAH67735,Q6NW41,Q6ZUS6,Q8N3K8 Hs.106432 DKFZp761B107 protein-coding 1605034 CCDC15 coiled-coil domain containing 15 14702039,12477932 80071 NM_025004,AP003501,CH471065,AK023277,AW339835,BC018540,BU569785,DB516555 NP_079280,EAW67617,EAW67618,BAB14504,AAH18540,Q0P6D6 Hs.287555 FLJ13215 protein-coding 1606406 CCDC150 coiled-coil domain containing 150 14702039,12477932 284992 CH471063,AK001064,AK096130,AK096979,AK125768,AL834537,BC062449,BC062658,NM_001080539,AC068544 AAY14905,EAW70131,BAC04706,BAC04920,CAD39193,AAH62449,AAH62658,Q8N8C6,Q8NCX0,NP_001074008 Hs.132519 DKFZp434P055|FLJ10202|FLJ38811|FLJ39660|MGC72171 protein-coding 1603185 CCDC151 coiled-coil domain containing 151 16344560,14702039,12477932 115948 NM_145045,AC024575,CH471106,AK056363,BC014252,BC036041,BC050355,BC141828,BC142637,BI548500,DB040667 NP_659482,EAW84213,EAW84214,AAH14252,AAI41829,AAI42638,Q96CG5 Hs.124010 FLJ31801|MGC20983 hypothetical protein mgc20983 protein-coding 1603565 CCDC17 coiled-coil domain containing 17 14702039,12477932 149483 NM_152500,NM_001114938,AL355480,CH471059,AK057646,AK310879,BC029888,BC065201,BC110988,BC128177,BC128178,DC414623 NP_689713,NP_001108410,CAI22466,EAX06961,EAX06962,EAX06963,BAB71539,AAH29888,AAI28178,AAI28179,Q5T628,Q96LX7 Hs.18912 FLJ17921|FLJ33084|RP4-697E16.4 protein-coding 1601798 CCDC18 coiled-coil domain containing 18 12601173,12477932 343099 AC126124,AL139421,CH471097,AA278251,AI436590,AK126045,AW444474,AY211914,AY211918,BC056667,BX538286,NM_206886,CA428763 NP_996769,CAI22508,CAI22509,CAI22510,CAI22511,EAW73078,EAW73079,EAW73080,BAC86410,AAO65167,AAO65171,AAH56667,CAD98081,Q5T9S2,Q5T9S3,Q5T9S4,Q5T9S5,Q6PH87,Q7Z659,Q86WF1,Q86WF4,AAI52763,AAI56746 Hs.310637 NY-SAR-41|RP4-717I23.1|dJ717I23.1 protein-coding 1604370 CCDC19 coiled-coil domain containing 19 10524255,12477932,9373149,8125298 25790 NM_012337,AL590560,CH471121,AF094758,AK225566,AK225582,AK292249,BC027874,BC064386,BC089391,BC109055,CR604695 NP_036469,CAH71107,EAW52765,EAW52766,AAD55817,BAF84938,AAH89391,Q05BA3,Q5VU18,Q9UL16 Hs.647705 NESG1|RP11-190A12.6 protein-coding 1604312 CCDC21 coiled-coil domain containing 21 16710414,15489334,14702039,12477932 64793 NM_022778,AL355877,AL451139,CH471059,AK024038,AK025653,AL133609,AL137420,BC019902,BC064528 NP_073615,CAI15848,CAI15849,EAX07833,EAX07834,EAX07835,EAX07836,BAB14794,BAB15203,CAB63740,CAB70730,AAH19902,AAH64528,Q6P2H3,Q9NTB2 Hs.63795 DKFZP434L0117|DKFZp434P232|FLJ13976|FLJ22000 protein-coding 1352329 CCDC22 coiled-coil domain containing 22 737633 15489334,12522145,12477932,8889548,16189514 737633 28952 NM_014008,NG_007392,AF235097,CH471224,AJ005890,AK291976,BC000972,BC011675,BG912845,BQ184335,CR598915,CR610841,CR611380 NP_054727,EAW50674,EAW50675,EAW50676,CAA06747,BAF84665,AAH00972,AAH11675,O60826,ABM85096,ABW03374 Hs.26333,Hs.247700 CXorf37|JM1 chromosome x open reading frame 37 protein-coding 1605525 CCDC23 coiled-coil domain containing 23 16710414,15489334,12477932 374969 NM_199342,AC098484,AL512353,CH471059,AK291356,BC029427 NP_955374,CAH72714,EAX07134,EAX07135,BAF84045,AAH29427,Q8N300 Hs.113919 protein-coding 1603566 CCDC24 coiled-coil domain containing 24 16710414,15489334,14702039,12477932 149473 NM_152499,AL139220,CH471059,AK092569,AY487420,BC033868,BC047313,BX641142,CR619815 NP_689712,CAI19427,EAX07058,EAX07059,EAX07060,EAX07061,AAR39430,AAH33868,AAH47313,CAE46063,Q05BG8,Q6MZH0,Q8N4L8 Hs.632394 MGC45441|RP5-1198O20.2 protein-coding 1605370 CCDC25 coiled-coil domain containing 25 17081983,16344560,15489334,15345747,14702039,12477932 55246 AC013643,AC104997,CH471080,AK001715,AK027900,AK292875,BC006239,BC032588,BC049197,BC054039,BC065295,NM_018246,BC110391,CR606061,CR617453,DA218015 NP_060716,EAW63539,EAW63540,EAW63541,EAW63542,EAW63543,BAA91857,BAB55442,BAF85564,AAH06239,AAH32588,AAH49197,AAH54039,AAH65295,AAI10392,Q0P663,Q0VGD4,Q6PK69,Q7Z5U5,Q86WR0 Hs.445512 FLJ10853 protein-coding 1602432 CCDC27 coiled-coil domain containing 27 16710414,15489334,14702039,12477932 148870 AL365330,CH471130,AK057387,BC112108,BC112112,NM_152492,AL136528 CAI42526,EAW71476,EAW71477,BAB71462,AAI12109,AAI12113,Q2M243,NP_689705,CAI19122 Hs.348700 FLJ32825|MGC138313|MGC138317|RP1-286D6.1 protein-coding 1351078 CCDC28A coiled-coil domain containing 28A This gene is located in a region close to the locus of the pseudogene of chemokine (C-C motif) receptor-like 1 on chromosome 6. The specific function of this gene has not yet been determined. 16028218,15489334,14574404,12477932 25901 NM_015439,AL121834,CH471051,AJ420568,AL050197,AY167571,BC000758,BC004464,BC013019,BC080566,BC108717,CR598704,CR612663,CR626300,CR626831 NP_056254,CAI42866,EAW47910,EAW47911,CAB43315,AAN87344,AAH04464,AAH13019,AAH80566,AAI08718,Q7Z6N9,Q8IWP9 Hs.412019 C6orf80|CCRL1AP|DKFZp586D0623|MGC131913 protein-coding 1603961 CCDC28B coiled-coil domain containing 28B The product of this gene localizes to centrosomes and basal bodies. It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). 16710414,16344560,16327777,15489334,14702039,12477932,9373149,8889548,8125298 79140 NM_024296,AL049795,CH471059,AK092702,AK225113,AK291904,BC002462,BC022848,BM981930,DA899719 NP_077272,CAB75616,CAI22057,EAX07563,EAX07564,BAF84593,AAH02462,AAH22848,Q9BUN5 Hs.534482 MGC1203|MGC16441|RP4-622L5.5 protein-coding 1625836 CCDC29 coiled-coil domain containing 29 728788 NM_001098806,CR769776 NP_001092276,CAI95378,CAI95379,CAI95380,CAI95382,Q4UJ76,Q4UJ79 Hs.699146 protein-coding 1351886 CCDC3 coiled-coil domain containing 3 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 83643 NM_031455,AL353586,AL355355,AL596124,CH471072,AF190154,AK024578,AK095792,AK123393,AK124195,AL136562,BC051334,CR618046,DN996248 NP_113643,CAH72783,CAH72784,CAI16545,CAI16546,EAW86311,AAQ13698,CAB66497,AAH51334,Q5VYV8,Q5VYV9,Q7Z4C2,Q9BQI4,CAL38166 Hs.498720 DKFZP761F241|FLJ20925|RP11-347I22.1 protein-coding 1605016 CCDC32 coiled-coil domain containing 32 15342556,14702039,12477932 90416 NM_001080791,NM_052849,NM_001080792,AC091045,CH471125,AK092214,AK293079,AL832032,BC001673,BG709516,BP202606,BQ878848,CD686743,CR594644,CR613762,CR617997,CR621892 NP_001074260,NP_443081,NP_001074261,EAW92420,EAW92421,EAW92422,EAW92423,EAW92424,EAW92425,EAW92426,EAW92427,BAC03831,BAF85768,CAD89911,AAH01673,Q9BV29 Hs.654661 FLJ25915|MGC20481 protein-coding 1602211 CCDC33 coiled-coil domain containing 33 16713569,16344560,16189514,15342556,14702039,12477932 80125 NM_025055,NM_182791,AC023300,AC090826,CH471136,AK026821,AK057417,AK290709,BC009178,BC025689,BC031684,BP292996,DB070410,DB078117 NP_079331,NP_877592,EAW99343,EAW99344,EAW99345,EAW99346,EAW99347,BAB15564,BAF83398,AAH31684,Q8N5R6 Hs.383206,Hs.621342 FLJ23168|FLJ32855|MGC34145 protein-coding 1606993 CCDC34 coiled-coil domain containing 34 15334068,12477932,11173847,10508479 91057 NM_030771,NM_080654,AC090597,CH471064,AF155108,AF301222,AF382034,AL555720,AY598334,BC008496,BC029421,BU595712,CR597641,CR600953 NP_110398,NP_542385,EAW68287,EAW68288,EAW68289,AAD42874,AAG39935,AAO13807,AAT06745,AAH08496,Q8IX69,Q96HJ3,Q9H2A6,Q9Y599 Hs.143733 L15|NY-REN-41|RAMA3 protein-coding 1602953 CCDC35 coiled-coil domain containing 35 387750 XM_929181,XM_940957,AC009796,AK074178,AK125885,AL137619,BX647806 XP_934274,XP_946050,BAB85004,CAB70845,Q8TEE6 Hs.647279,Hs.647273 DKFZp686J0796 protein-coding 1605539 CCDC36 coiled-coil domain containing 36 12477932 339834 NM_178173,AC121247,AC135506,CH471055,AK058049,BC015057,BC036202 NP_835467,EAW64965,EAW64966,BAB71640,AAH15057,AAH36202,Q8IYA8 Hs.631931 FLJ25320 protein-coding 1602811 CCDC37 coiled-coil domain containing 37 12477932,15489334,14702039 348807 NM_182628,AC063919,AC073439,AK097402,BC101366,BC101367,BC101368,BC101369 NP_872434,BAC05035,AAI01367,AAI01368,AAI01369,AAI01370,Q494V2 Hs.591305 FLJ40083|MGC120558 protein-coding 1603366 CCDC38 coiled-coil domain containing 38 15489334,14702039,12477932 120935 NM_182496,AC090001,AC126174,CH471054,AK097408,BC047659,BC095479 NP_872302,EAW97550,EAW97551,BAC05038,AAH95479,Q502W7 Hs.210377 FLJ40089 protein-coding 1605540 CCDC39 coiled-coil domain containing 39 11256614,12477932,11329013 339829 NM_181426,AC068298,AL122120,BC047103,BG205877,DC399927 NP_852091,CAB59277,Q9UFE4 Hs.652356 DKFZp434A128 protein-coding 1605502 CCDC4 coiled-coil domain containing 4 12477932,14702039 389206 NM_207406,AC111006,CH471069,AB126828,AB126829,AK092951,AK125953,BC128592,BC128593,CR624996 NP_997289,EAW93001,BAD93191,BAD93192,BAC86359,AAI28593,AAI28594,Q6ZU67,AAI46594,AAI48434 Hs.120591 FLJ35632|FLJ43965|MGC157807|MGC157808 protein-coding 1605992 CCDC40 coiled-coil domain containing 40 16344560,14702039,12477932,10997877 55036 NM_017950,AC087741,AC116025,CH471099,AB046860,AI393590,AK000760,AK056583,AK130684,AL713758,BC035251,BC058288,DB236682 NP_060420,EAW89578,EAW89579,BAB13466,BAA91365,AAH35251,AAH58288,Q4G0X9 Hs.202542 FLJ20753|FLJ32021|KIAA1640 protein-coding 1606008 CCDC41 coiled-coil domain containing 41 16344560,15489334,14702039,12477932,10508479,8889548 51134 NM_016122,AC068779,AC073655,CH471054,AF155115,AK056316,AL705616,BC011009,BC032943,BC053614,BC107746,BC125086,BC125087,BU608784,DA440413,DB449066,NM_001042399 NP_001035858,NP_057206,EAW97501,EAW97502,EAW97503,EAW97504,EAW97505,AAD42881,AAI07747,AAI25087,AAI25088,Q08AP1,Q3B787,Q9Y592 Hs.279209 MGC149726|NY-REN-58 protein-coding 1601721 CCDC42 coiled-coil domain containing 42 16189514,15489334,14702039,12477932 146849 NM_144681,AC009451,AC011061,CH471108,AF397445,AK057296,BC029224 NP_653282,EAW90043,EAW90044,EAW90045,AAK84415,BAB71414,AAH29224,Q96M95 Hs.121438,Hs.511731 FLJ32734 protein-coding 1606980 CCDC43 coiled-coil domain containing 43 14702039,12477932 124808 NM_144609,AC091152,CH471178,AI073854,AK056357,AK098464,AL833590,BC023298,BC047776,BG706097,BX648868,NM_001099225 NP_001092695,NP_653210,EAW51588,EAW51589,BAB71162,AAH47776,Q86WV7,Q96MW1 Hs.579115 FLJ31795 protein-coding 1602721 CCDC44 coiled-coil domain containing 44 16189514,15489334,14702039,12477932 51204 CR619833,NM_016360,AC046185,AC113554,CH471109,AK094052,AL833861,BC005049,BC007744,CR595383 Q8N9Q7,Q9BSH4,NP_057444,EAW94302,EAW94303,EAW94304,BAC04273,CAD38719,AAH05049,AAH07744 Hs.174134 protein-coding 1601939 CCDC45 coiled-coil domain containing 45 15231747,15489334,14702039,12477932,16189514 90799 NM_138363,AC009994,AC138744,CH471109,AK057326,AK290587,AL832822,BC009518,BC029461 NP_612372,EAW94196,EAW94197,EAW94198,EAW94199,EAW94200,BAB71428,BAF83276,CAI46165,AAH09518,Q5JPF7,Q96GE4 Hs.569713 DKFZp667E1824 protein-coding 1604510 CCDC46 coiled-coil domain containing 46 This gene encodes a protein with filament, myosin tail and ATPase domains. Orthologs of this gene exist in mouse, rat and chimp. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 15489334,14702039,12477932,11329013 201134 NM_145036,NM_001037325,AC004805,AC006120,AC006440,AC007716,AC087302,AC105028,CH471099,AA723963,AF458591,AK096929,AK097612,AK098070,BC029524,BC037991,BC131805,BG203878 NP_659473,NP_001032402,EAW89007,EAW89008,EAW89009,EAW89010,AAM49719,BAC04901,AAH29524,AAH37991,AAI31806,Q8N8E3 Hs.408676 FLJ39610|MGC33887 protein-coding 1603982 CCDC47 coiled-coil domain containing 47 17353931,16344560,16303743,15489334,14702039,12477932,9373149,8125298 57003 AC015651,CH471109,CS051185,AF113221,AF226054,AK027786,AK027844,AK075387,AK225813,BC001300,BC008905,BC013600,DB222124,NM_020198 NP_064583,EAW94279,EAW94280,EAW94281,EAW94282,CAI72088,AAG39292,AAF86954,BAB55367,BAB55407,BAC11587,AAH08905,AAH13600,Q96A33,ABM87572 Hs.202011 GK001|MSTP041 protein-coding 1602687 CCDC48 coiled-coil domain containing 48 15489334,14702039,12477932 79825 NM_024768,AC108673,AC112484,CH471052,AK022119,BC093800,BC112195 NP_079044,EAW79286,BAB13964,AAH93800,AAI12196,Q9HA90 Hs.134807 FLJ12057|MGC138400 protein-coding 1603211 CCDC49 coiled-coil domain containing 49 16189514,12477932,9373149 54883 NM_017748,AC006449,CH471152,AK000298,AK225373,BC003085,BC008833,CR749362 NP_060218,EAW60537,BAA91065,AAH03085,AAH08833,CAH18215,Q9NXE8 Hs.406223 DKFZp779M0968|FLJ20291 protein-coding 1346730 CCDC5 coiled-coil domain containing 5 (spindle associated) 737633,1580863 15489334,15232106,15082789,14702039,12477932,16189514 737633 115106 AY360137,BC005958,BC014003,CR599261,CR601181,NM_138443,AC012569,CH471088,AK024747,AK097403 BAC05036,AAQ63649,AAH05958,AAH14003,Q96CS2,NP_612452,EAX01469 Hs.436617 FLJ21094|FLJ40084|HEI-C|HsT1461 protein-coding 1606954 CCDC50 coiled-coil domain containing 50 17503326,17081983,16803894,15951569,15489334,15314609,14702039,14527723,12483295,12477932 152137 NM_178335,NM_174908,AC068645,AC073365,CH471052,AJ416916,AJ557013,AK055652,AK092045,AK093660,BC065004,CR592179,CR601015,CR603155,CR610519,CR614299,CR618301,CR618316 NP_848018,NP_777568,EAW78089,EAW78090,CAC95196,CAD89526,AAH65004,Q8IVM0 Hs.478682,Hs.592514 C3orf6|DFNA44|YMER protein-coding 1602866 CCDC51 coiled-coil domain containing 51 15342556,15146197,14702039,12477932 79714 NM_024661,AC104448,CH471055,AK022498,BC004341,BC011993,BP307614,CN259750,CR595423,CR595966,CR599349,CR600383 NP_078937,EAW64867,EAW64868,EAW64869,EAW64870,EAW64871,EAW64872,BAB14060,AAH11993,Q96ER9 Hs.187657 FLJ12436 protein-coding 1606953 CCDC52 coiled-coil domain containing 52 17081983,15489334,15302935,12477932,9110174,8619474,8012384 152185 NM_144718,AC112128,CH471052,Z61420,AK057966,AK126897,AK129575,AL832148,AL832327,AY099107,BC019232,BC036951,BC038595,U79249 NP_653319,EAW79634,EAW79635,EAW79636,EAW79637,CAD91167,AAM34495,AAH19232,AAH36951,Q8N0Z3 Hs.477144 FLJ26064|FLJ44949 protein-coding 1606297 CCDC53 coiled-coil domain containing 53 16189514,16169070,15489334,12477932,10931946,10810093,9373149,8125298 51019 NM_016053,AC079907,CH471054,AF151874,AF155655,AI739611,AK223339,BC010889,CR457171,CR609797,CR621235,CR623956,DB452335 NP_057137,EAW97687,AAD34111,AAF67012,BAD97059,AAH10889,CAG33452,Q9Y3C0 Hs.405692 CGI-116 protein-coding 1606758 CCDC54 coiled-coil domain containing 54 16138340,12477932 84692 NM_032600,AC063944,CH471052,AF367469,AK058091,BC030780 NP_115989,EAW79746,AAK53405,BAB71661,AAH30780,Q8NEL0,ABM81755,ABM81756,ABM84911 Hs.164799 FLJ25362|NYD-SP17 protein-coding 1604770 CCDC55 coiled-coil domain containing 55 11256614,17081983,16964243,16381901,15489336,15489334,14702039,12477932,11230166,11076863 84081 NM_032141,AC104984,CH471159,AF161358,AK094552,AL136806,BC016313,BC040118,BC046116,BC062425,BC105044,BC105046,CB957325,CR533555 NP_115517,EAW51220,EAW51221,EAW51222,AAF28918,CAB66740,AAH16313,AAH40118,AAI05045,AAI05047,CAG38586,Q05DD5,Q0JV63,Q9H0G5,Q9P0E1,CAL37583,CAL37597 Hs.462663 DKFZP434K1421|FLJ37233|HSPC095 protein-coding 1606307 CCDC56 coiled-coil domain containing 56 15489334,12477932,11042152,9373149 28958 NM_001040431,AC016889,CH471152,AF070665,AK225611,AK290863,BC002698,CR593427,CR594541 NP_001035521,EAW60884,EAW60885,AAD20971,BAF83552,AAH02698,Q9Y2R0,ABM84374,ABW03549 Hs.16059 HSPC009 protein-coding 1605253 CCDC57 coiled-coil domain containing 57 15851553,14702039,12477932,10737800,9110174,8619474 284001 NM_198082,AC129510,AC132872,AC135056,AF007146,AK074059,AK074334,AK125941,AL137530,BC040264,BC110997,BE146089,CK431023 NP_932348,BAB84885,BAB85054,CAB70794,AAH40264,AAI10998,Q0VAB8,Q0VAB9,Q2TAC2,Q8TE98,Q9NT49 Hs.631724 FLJ00130|FLJ23754|FLJ43953|MGC102869 protein-coding 1604240 CCDC58 coiled-coil domain containing 58 15489334,12477932 131076 NM_001017928,AC083798,CH471052,BC054051,BC062725,BC109378 NP_001017928,EAW79487,EAW79488,AAH62725,AAI09379,Q4VC31 Hs.220594 FLJ33273 protein-coding 1606017 CCDC59 coiled-coil domain containing 59 11152647,17353931,16630564,14702039,12882447,12477932,11042152,9373149,8125298 29080 NM_014167,AC083811,CH471054,AF161477,AF213377,AK001156,AK225139,AL832749,BC020647,BG538660,CR611206 NP_054886,EAW97379,EAW97380,AAF29092,AAG43569,BAA91524,AAH20647,Q9P031 Hs.582627 BR22|DKFZp686K1021|FLJ10294|HSPC128|TAP26 protein-coding 1344180 CCDC6 coiled-coil domain containing 6 1580863 17353931,8058316,18474871,17420723,17081983,16964243,16344560,15302935,15144186,14712216,14702039,12477932,8889549,7753554,6745938,2406025,775355 8030 NM_005436,AC023904,AC060231,CH471083,AA112388,AK024913,AK055515,AK056848,AK292593,BC022284,BC036757,BC064391,CR607870,DA189501,DA923950,S72869 NP_005427,EAW54196,EAW54197,BAF85282,AAH22284,AAH36757,AAH64391,AAC60637,Q05CP8,Q16204,Q6GSG7 Hs.591360 D10S170|FLJ32286|H4|PTC|TPC|TST1 protein-coding 1602176 CCDC60 coiled-coil domain containing 60 15489334,12477932 160777 NM_178499,AC002070,AC084881,CH471054,BC040553 NP_848594,EAW98147,EAW98148,EAW98149,EAW98150,AAH40553,Q8IWA6 Hs.98188 MGC39827 protein-coding 2290511 CCDC61 coiled-coil domain containing 61 729440 NM_001080402,AC007785,AC011545 NP_001073871 Hs.515479 protein-coding 1603292 CCDC62 coiled-coil domain containing 62 15489334,14702039,12477932 84660 NM_032573,NM_201435,AC027290,CH471054,AK058161,AK097663,AK124633,AK292466,AY009105,AY254201,BC060796 NP_115962,NP_958843,EAW98344,EAW98345,BAC85909,BAF85155,AAG49396,AAP13075,AAH60796,Q6P9F0 Hs.592008 FLJ25432|FLJ40344|TSP-NY|aaa protein-coding 1604733 CCDC63 coiled-coil domain containing 63 14702039,12477932 160762 BC044815,NM_152591,AC002351,AC002375,CH471054,AK093162,BC064580,BC073147 NP_689804,EAW97941,EAW97942,BAC04081,AAH44815,AAH64580,AAH73147,Q8NA47 Hs.437141 FLJ35843 protein-coding 1603186 CCDC64 coiled-coil domain containing 64 92558 NM_207311,AC004812,AC004815,CH471054,AK129960,U88834 NP_997194,AAC83181,EAW98159,EAW98160,EAW98161,EAW98162,BAC85259,Q6ZP65 Hs.369763 FLJ26450|H_267D11.1 protein-coding 1626601 CCDC64B coiled-coil domain containing 64B 12477932 146439 NM_001103175,AC108134,CH471112,AL833717,AL833749,BC015446,BC128602,BG142147 NP_001096645,EAW85420,CAH56245,AAI28603,A1A5D9 Hs.513285 MGC158069 protein-coding 1604557 CCDC65 coiled-coil domain containing 65 CCDC65 is a sperm tail protein that is posttranslationally modified during sperm capacitation (Zheng et al., 2006 [PubMed 17089017]).[supplied by OMIM] 17089017,14702039,12477932 85478 NM_033124,AC073610,CH471111,AF382188,AK093051,AK098529,BC039317 NP_149115,EAW58020,EAW58021,AAK60542,BAC04035,BAC05324,AAH39317,Q8IXS2 Hs.512805 FLJ25663|FLJ35732|NYD-SP28 protein-coding 1605241 CCDC66 coiled-coil domain containing 66 14702039,12477932 285331 NM_001012506,AC098478,AC099781,AK095688,AK096754,AK125303,AL832556,AL832692,AL833326,BC047509,BC132827,CF994722 NP_001012524,BAC04607,AAH47509,AAI32828,A2RUB6 Hs.476399 DKFZp686C0433 protein-coding 1606948 CCDC67 coiled-coil domain containing 67 16189514,12477932 159989 NM_181645,AP003969,AP004242,CH471065,AK058122,AK127973,BC017929,BC031247,BC050325,DB449834 NP_857596,EAW66898,EAW66899,EAW66900,BAB71673,BAC87213,AAH17929,AAH31247,AAH50325,Q05D60,Q6ZRU6,Q86W88 Hs.436625 FLJ25393 protein-coding 1601959 CCDC68 coiled-coil domain containing 68 15489334,15142679,12477932,11149944 80323 NM_025214,AC098848,CH471096,AF273051,AK058097,BC029508,CR592235 NP_079490,EAW63013,EAW63014,EAW63015,AAG34911,AAH29508,Q9H2F9 Hs.120790 FLJ25368|SE57-1 protein-coding 1603313 CCDC69 coiled-coil domain containing 69 14702039,12477932,9373149 26112 AL080169,AL713742,AY538626,BC013053,BC016647,BM927471,CR613734,NM_015621,AC008385,AC011342,CH471062,AK023767,AK094658,AK225826,AK292841 BAF85530,CAB45757,AAS45488,AAH16647,A6NI79,Q6QIX4,Q9H8E5,Q9Y4P0,NP_056436,EAW61682,EAW61683,BAB14672 Hs.655336 DKFZP434C171|FLJ13705 protein-coding 1353671 CCDC7 coiled-coil domain containing 7 737633 16189514,15489334,14702039,12477932 737633 221016 NM_145023,NM_001026383,AL354750,AL391839,CH471072,AK057324,AK058148,BC022020,BC042672,BI462512,BX647771,EF656618,EF656619,EF656620 NP_659460,NP_001021554,CAI39704,CAI39706,CAH70456,EAW85964,EAW85965,EAW85966,BAB71426,BAB71686,AAH22020,AAH42672,CAI46051,ABR88143,ABR88144,ABR88145,Q5HYG3,Q5JTR9,Q5VTK3,Q5VW55,Q96LK5,Q96M83 Hs.585464 BioT2-A|BioT2-B|BioT2-C|DKFZp686N0559|FLJ32762|RP11-479G22.1 protein-coding 1603195 CCDC70 coiled-coil domain containing 70 11256614,15489334,15342556,15057823,14702039,12477932,11230166,9373149,8125298 83446 AL162377,CH471075,CS072272,AK098719,AK225745,AL136887,BC069691,BC069748,BC069770,BC069806,BP371671,NM_031290 NP_112580,CAI13430,EAX08897,CAI93410,BAC05391,CAB66821,AAH69691,AAH69748,AAH69770,AAH69806,Q6NSX1 Hs.120573 DKFZP434K1172|FLJ25853 protein-coding 1601742 CCDC71 coiled-coil domain containing 71 16344560,15489334,14702039,12477932 64925 NM_022903,AC135506,CH471055,AK022862,AK023691,AK098658,BC035516,BC071960,CR608045,CR608073,CR610877,CR617305,DA613715 NP_075054,EAW64960,BAB14278,BAB14642,AAH35516,AAH71960,Q8IV32 Hs.211472 FLJ12800|FLJ13629 protein-coding 1605384 CCDC72 coiled-coil domain containing 72 11042152,16096800,15740594,15489334,14702039,12477932 51372 AC104448,NM_015933,CH471055,AF077202,AF161448,AK126594,AY508979,AY794023,BC001102,BC066333,BC080531 NP_057017,EAW64873,EAW64874,AAD26997,AAF29008,AAR87665,AAV40981,AAH80531,Q9Y2S6,ABM86882,ABW03833 Hs.356440 HSPC016 protein-coding 1601781 CCDC73 coiled-coil domain containing 73 12601173,12477932 493860 NM_001008391,AL035400,AL049714,AL078477,AL096793,CH471064,AA521271,AK128159,AK131470,AY211922,BC062749,BC146800 NP_001008392,EAW68216,BAC87304,BAD18615,AAO65175,AAH62749,AAI46801,Q6ZRK6 Hs.706808 NY-SAR-79 protein-coding 1604765 CCDC74A coiled-coil domain containing 74A 15815621,15489334,14702039,12477932 90557 NM_138770,AC093838,CS063590,AK097664,BC016861,BC030744,BC063387,CR608628 NP_620125,AAY14809,CAI84530,BAC05137,AAH16861,AAH30744,AAH63387,Q4G142,Q8N7U0,Q96AQ1 Hs.351461 FLJ40345 protein-coding 1605902 CCDC74B coiled-coil domain containing 74B 15489334,14702039,12477932 91409 NM_207310,AC018804,AK057609,AL133619,BC067771 NP_997193,BAB71533,CAB63745,AAH67771,Q96LY2,Q9UF43 Hs.29383 DKFZp434E2321 protein-coding 1606673 CCDC75 coiled-coil domain containing 75 15815621,15489334,14702039,12477932,12213963 253635 NM_174931,AC007899,CH471053,AK095667,AK289504,BC071798,BM285380,BX647651 NP_777591,AAY24316,EAX00410,EAX00411,BAC04602,BAF82193,AAH71798,Q8N954 Hs.595250 FLJ38348|GPATCH11 protein-coding 1604003 CCDC76 coiled-coil domain containing 76 16710414,15489334,14702039,12477932,11799066 54482 NM_019083,AL445928,CH471097,AK001149,AK002081,AK289404,BC057226,BC075811 NP_061956,CAH72249,CAH72251,CAH72252,EAW72970,EAW72971,EAW72972,EAW72973,BAA91520,BAA92074,BAF82093,AAH75811,Q5VVK9,Q5VVL2,Q9NUP7 Hs.440371 FLJ10287|FLJ11219 protein-coding 1601842 CCDC77 coiled-coil domain containing 77 15489334,14702039,12477932 84318 Q9BR77 NM_032358,AC005844,CH471116,AK027638,BC006444,CR618406 NP_115734,EAW88967,EAW88968,EAW88969,BAB55255,AAH06444,Q9BR77 Hs.631656 MGC13183 protein-coding 1345830 CCDC78 coiled-coil domain containing 78 14702039,12477932,11157797 124093 BC027941,BC031561,BC042110,CR617330,NM_001031737,NM_173476,AE006464,CH471112,Z98258,AK057178,AK091831,AK127495,AK128538,AK128575,AY439221 AAR13900,AAH27941,AAH31561,AAH42110,A2IDD5,Q6ZR15,Q6ZSE7,NP_001026907,NP_775747,AAK61249,EAW85734,EAW85735,EAW85736,EAW85737,EAW85738,EAW85739,EAW85740,EAW85741,EAW85742,EAW85743,EAW85744,EAW85745,CAM26479,BAC03757,BAC87006,BAC87488,BAC87507 Hs.381943 GDB:11504871 C16orf25|FLJ34512|JFP10|LA16c-444G9.2 chromosome 16 open reading frame 25 protein-coding 1605833 CCDC79 coiled-coil domain containing 79 14702039 283847 XM_001130007,XM_001717087,XM_001717868,AC044802,AK093213,BC126109 XP_001130007,XP_001717139,XP_001717920,BAC04098,AAI26110,Q8NA31 FLJ35894 protein-coding 1351060 CCDC8 coiled-coil domain containing 8 737633 11256614,15489334,12477932,11230166 737633 83987 NM_032040,AC024584,CH471126,AL136609,BC015648,BC025243 NP_114429,EAW57418,CAB66544,AAH25243,Q9H0W5 Hs.97876 DKFZP564K0322 protein-coding 736330 CCDC80 coiled-coil domain containing 80 18178152,15998583,15563452,15489334,15325258,14702039,12477932,11812002,8889548 151887 NM_199511,NM_199512,AC048334,CH471052,AB052098,AB266387,AF506819,AK075210,AK292881,AL833034,AY333429,AY526612,AY548106,AY548107,AY726593,BC023639,BC042105,BC042128,BC073164,BC086876,BC110842,BC116178,BC116179,BM787873,BX647117,BX647817 NP_955805,NP_955806,EAW79663,EAW79664,EAW79665,BAD05134,BAF48770,AAM33633,BAC11475,BAF85570,CAH56325,AAQ96742,AAS92235,AAS66643,AAS66644,AAH42105,AAH73164,AAH86876,AAI10843,AAI16179,CAH56178,CAH56167,Q76M96 Hs.477128 DRO1|MGC131805|MGC134851|SSG1|URB|okuribin protein-coding 1605353 CCDC81 coiled-coil domain containing 81 9373149 60494 NM_021827,AP001148,AK027167,AK131331,AK223168,BC126412 NP_068599,BAB15681,BAD18491,BAD96888,AAI26413,Q6ZN84 Hs.144913 FLJ16339|FLJ23514 protein-coding 1602861 CCDC82 coiled-coil domain containing 82 17081983,15489334,14702039,12477932,11042152,10931946,17353931 79780 NM_024725,AP000848,AP003781,CH471065,AF161533,AF245436,AK027171,AK056790,AK074306,BC018663,BC033726,CR609047 NP_079001,EAW66979,EAW66981,EAW66982,EAW66983,EAW66984,EAW66985,AAF29020,AAG44484,BAB15683,AAH18663,AAH33726,Q8N4S0,Q8WV71,Q9NZY7,EAW66980 Hs.525088 FLJ23518|HSPC048 protein-coding 1606128 CCDC83 coiled-coil domain containing 83 14702039,12477932 220047 NM_173556,AP000974,AP003128,CH471076,AK093405,AK124113,AY251167,BC040280 NP_775827,EAW75114,EAW75115,BAC04154,BAC85776,AAP20064,AAH40280,Q8IWF9 Hs.567774 FLJ42119|HSD9|MGC34732 protein-coding 1602413 CCDC84 coiled-coil domain containing 84 15489334,12477932 338657 NM_198489,AP003392,CH471065,AB094093,BC126469,BC126471 NP_940891,EAW67422,EAW67423,EAW67424,BAC76047,AAI26470,AAI26472,Q86UT8 Hs.534613 DLNB14 protein-coding 1605892 CCDC85A coiled-coil domain containing 85A 11572484 114800 NM_001080433,AC007743,AC007744,CH471053,AB067499,BC131557 NP_001073902,EAX00077,BAB67805,AAI31558,Q96PX6,AAI56396,AAI57124 Hs.117136 KIAA1912 protein-coding 1605406 CCDC85B coiled-coil domain containing 85B Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. 16189514,17014843,16713569,15644333,15489334,12477932,9115212,8848724,8810253,15605074 11007 NM_006848,AP006287,CH471076,AI583181,BC008796,U63825 NP_006839,EAW74468,AAH08796,AAB05928,Q15834 Hs.66713 DIPA protein-coding 1604295 CCDC86 coiled-coil domain containing 86 17300783,16344560,15302935,12477932,15607035 79080 NM_024098,AP000777,CH471076,AI018490,AK025974,AK123775,BC001378,BE795888,CR590195,CR592065,CR596012,CR599766,CR602235,CR611947,CR613603,CR620265,CR622897,CR623418,CR624036,CR624452,CR625528,DA292314,DQ501251 NP_077003,EAW73901,BAB15304,BAC85689,AAH01378,Q6ZW18,Q9H6F5,ABM83529,ABM86770,ABF68612 Hs.4253 FLJ22321|MGC2574 protein-coding 1602481 CCDC87 coiled-coil domain containing 87 14702039,16189514,12477932 55231 NM_018219,AP001157,AI391530,AK001648,BC034469 NP_060689,BAA91808,AAH34469,Q9NVE4 Hs.121072 FLJ10786 protein-coding 1347801 CCDC88A coiled-coil domain containing 88A 16139227,15882442,15749703,18316593,18264090,15753085,15345747,14702039,12477932,10574462 55704 AK025723,AK124603,AK124761,AL036590,AV728179,BC014905,BC015539,BC032683,BC041160,BC045829,BC056885,BC060037,BC078168,BC092515,BC132736,BC142646,BC142700,BU570532,BX537985,BX538154,BX647874,BX648138,D64159,NM_018084,AC012358,AC019198,AC092176,CH471053,AB033038,AB125644,AB201172,AF112218,AK001254,AK024717 AAH41160,AAH60037,AAH78168,AAI32737,CAD97945,CAD98038,CAI46020,BAA21515,O14997,Q3V6T2,Q6DCA5,Q6PAV0,Q86YH1,Q9NW05,Q9UI01,Q9ULK8,NP_060554,AAY14932,AAX82029,EAX00099,EAX00100,EAX00101,BAA86526,BAF44475,BAE44387,AAF17206,BAA91584 Hs.292925 APE|DKFZp686D0630|GIRDIN|GIV|GRDN|HkRP1|KIAA1212 protein-coding 1603867 CCDC88B coiled-coil domain containing 88B 14667819,15882442,14702039,12477932,11230166 283234 NM_032251,AP003774,AK074126,AK090436,AK095289,AK126728,AL136799,AY491401,BC030194,BC040232,BC140822,BC140824,BC141866,BC151218,BC151222,BE222756,CR623413 NP_115627,BAB84952,BAC03417,BAC04523,BAC86661,CAB66733,AAR83719,AAH30194,AAH40232,AAI40823,AAI40825,AAI41867,A6NC98,Q6ZTD1,Q8N2U6,Q8TEI3,Q8TEJ7,Q9H0H1 Hs.98564 BRLZ|CCDC88|DKFZp434G0920|FLJ00354|FLJ37970|HkRP3 protein-coding 1604894 CCDC88C coiled-coil domain containing 88C 14750955,17185515,14702039,12477932,10819331,9110174,8619474 440193 AL133153,AL135818,CH471061,AB040942,AF070587,AK022593,AL137353,AL833046,BC028565,BC032316,BC035914,BX248302,BX283171,CR606047,CR607628,CR747498,CR998718,DC402942,DR006516,EG328265,NM_001080414 NP_001073883,EAW81451,BAA96033,BAB14119,CAH10602,AAH28565,AAH32316,AAH35914,CAD62629,Q0P665,Q9H9V0,Q9P219 Hs.525536 DAPLE|FLJ00354|HkRP2|KIAA1509 protein-coding 1602421 CCDC89 coiled-coil domain containing 89 15489334,15188402,14702039,12477932 220388 NM_152723,AP000642,CH471076,AK095478,BC044814,CR595564 NP_689936,EAW75106,BAC04556,AAH44814,Q8N998 Hs.376241 FLJ38159 protein-coding 1348427 CCDC9 coiled-coil domain containing 9 737633 15489334,15302935,12477932,11256614,11230166 737633 26093 NM_015603,AC008532,CH471126,AL050284,BC002787,BC009743 NP_056418,EAW57468,CAB43385,AAH02787,AAH09743,Q9Y3X0 Hs.227782 DKFZP586M1019 protein-coding 1349094 CCDC90A coiled-coil domain containing 90A 16344560,14702039,12477932 63933 NM_001031713,AL023583,CH471087,AK024611,BC008234,BC016850,DA892975 NP_001026883,CAI21582,EAW55346,EAW55347,EAW55348,BAB14934,AAH08234,AAH16850,Q96AQ8,Q9HAD8 Hs.214043 C6orf79|FLJ20958 chromosome 6 open reading frame 79 protein-coding 1605354 CCDC90B coiled-coil domain containing 90B 16169070,14702039,12477932,11256614,11230166,9373149,8125298 60492 CR625695,CR593851,AP000873,CH471076,AF182412,AF182424,AF271782,AK055972,AK225726,AL136791,BC014573,BC017771,BC020783,BC032701,BC048795,BC067764,NM_021825,BC107755 Q9GZT6,AAI07756,NP_068597,EAW75088,EAW75089,EAW75090,EAW75091,AAG14948,AAG14960,AAG44793,CAB66725,AAH14573,AAH20783 Hs.368866 MDS011|MDS025|MGC104239 protein-coding 1605359 CCDC91 coiled-coil domain containing 91 17596511,15489334,14702039,12858163,12808037,12477932,8889548,16189514 55297 CR457277,NM_018318,AC022079,AC024939,AC046131,AC084754,CH471094,AK001950,AK093152,AL570537,AY251168,AY289196,BC018679,BC028682,BU739164,CR603339,CR749586 NP_060788,EAW96579,EAW96580,EAW96581,EAW96582,BAA91995,AAP20065,AAP42284,AAH18679,AAH28682,CAG33558,CAH18385,Q05D28,Q7Z6B0 Hs.653125 DKFZP779L1558|DKFZp779L1558|FLJ11088|HSD8|p56 protein-coding 1604596 CCDC92 coiled-coil domain containing 92 15489334,14702039,12477932,9373149 80212 AC068790,AC079315,CH471054,AB015292,AK026124,AK054680,AK124358,AK125866,AK222661,BC017186,CR591916,CR597678,CR605761,CR606813,CR611591,NM_025140,CR623225,CR624819,CR626468 NP_079416,EAW98438,EAW98439,EAW98440,BAB82436,BAB15366,BAD96381,AAH17186,Q53HC0 Hs.114111 FLJ22471 protein-coding 1603642 CCDC93 coiled-coil domain containing 93 16381901,15815621,15489336,15489334,14702039,12477932,11076863,9110174,8619474 54520 AC009303,AC009404,CH471103,AB209993,AF070582,AK001858,AK025611,AK057926,AK124683,AK290722,AL050001,NM_019044,AY726577,BC005078,BC012052,BC028609,BC080559,BC093018,CR590543 Q9BSF2,CAL38066,CAL38380,CAL38575,NP_061917,AAX93279,AAX88948,AAX88949,EAW95197,EAW95198,BAE06075,BAA91945,BAB15188,BAF83411,AAH05078,AAH28609,AAH93018,Q0JSD9,Q4ZG73,Q567U6 Hs.107845 FLJ10996|FLJ25197|MGC13033 protein-coding 1603997 CCDC94 coiled-coil domain containing 94 17081983,15489334,14702039,12477932 55702 NM_018074,AC005578,AC008616,CH471139,AF091080,AK001236,AK023988,BC000561,BC019096,CR608825,CR619668 NP_060544,AAC33489,EAW69242,EAW69243,AAC72949,BAA91572,BAB14757,AAH00561,AAH19096,Q7LE05,Q9BW85 Hs.21811 FLJ10374 protein-coding 1605827 CCDC95 coiled-coil domain containing 95 15489334,14702039,12477932 283899 AC093512,CH471238,CQ783841,AK074033,AK074137,AK075133,NM_173618,AK130409,AY189289,BC035693,BC047712,CR591225,CR592457,CR592458,CR596568,CR596765,CR597344,CR617333,CR618846,CR620186,CR620749,CR626828 NP_775889,EAW79953,EAW79954,EAW79955,EAW79956,EAW79957,EAW79958,EAW79959,CAF86887,BAB84859,BAB84963,BAC11424,AAO86733,AAH47712,Q6Y2K3,Q8NBZ0,Q8TEI7,Q8TET7 Hs.434864 FLJ00079|FLJ90652 protein-coding 1603873 CCDC96 coiled-coil domain containing 96 16344560,15489334,14702039,12477932 257236 NM_153376,AC097382,CH471131,CQ783834,AK075056,BC105055,BC112274,BQ009685,DB045256 NP_699207,EAW82373,CAF86884,BAC11373,AAI05056,AAI12275,Q2M329 Hs.656757 FLJ90575|MGC138479 protein-coding 1602452 CCDC97 coiled-coil domain containing 97 14702039,12477932 90324 NM_052848,AC011462,CH471126,AK097586,AL833726,BC007575,BC011577,BC019597 NP_443080,EAW57030,EAW57031,CAH56251,AAH07575,AAH11577,Q96F63 Hs.437497 FLJ40267|MGC20255 protein-coding 1604576 CCDC98 coiled-coil domain containing 98 17525340,18270812,18077395,17643122,17643121,16344560,15489334,14702039,12975309,12477932 84142 NM_139076,AC096768,CH471057,AK021582,AK022704,AK023676,AY358576,BC016905,BC039573,BQ775930,DA765424,EF531340 NP_620775,EAX05941,EAX05942,EAX05943,BAB14189,BAB14635,AAQ88939,AAH16905,AAH39573,ABP87396,Q6UWZ7,Q96AN9 Hs.334772 ABRA1|FLJ11520|FLJ12642|FLJ13614 protein-coding 1606284 CCDC99 coiled-coil domain containing 99 15489334,15342556,14702039,12477932 54908 NM_017785,AC008680,CH471062,AF269167,AK000371,AK074227,AK098009,AY517557,BC012568,BP295943,BU166207,CA417197,CD653505,DC379275 NP_060255,EAW61495,EAW61496,AAG01408,BAA91119,BAB85022,AAT44530,AAH12568,Q96EA4 Hs.368710 FLJ20364|FLJ40690 protein-coding 1344859 CCHCR1 coiled-coil alpha-helical rod protein 1 18174193,17530646,17340018,17221218,17179747,16713569,15654960,15539411,15214895,15146197,14702039,14675183,12909641,12477932,12023963,11875053,11348465,10888604,10545595,7566098 54535 AB029331,AB112474,AB112475,AF216493,AK000204,AK000217,AK000533,AK289446,AY029160,BC110534,BC110535,CN428429,CR457227,DC357362,AA356205,NM_019052,NM_001105564,NM_001105563,AB029343,AB088104,AB202104,AC004195,AL662833,AL662844,AL773544,BA000025,CH471081 BAA81890,BAD05130,BAD05131,AAF74221,BAA91007,BAA91016,BAA91236,BAF82135,AAK55759,AAI10535,AAI10536,CAG33508,Q0EFB6,Q2L6G6,Q2TB67,Q2TB68,Q5SQ82,Q5STE9,Q5STF0,Q5STF1,Q6IAC8,Q769H0,Q8TD31,NP_061925,NP_001099034,NP_001099033,BAA82158,BAC54937,BAE78628,CAI17403,CAI17404,CAI17405,CAM24808,CAM24809,CAM24810,CAM24811,CAM24812,CAM24813,CAI18328,CAM25631,CAM25632,CAM25633,CAM25634,CAM25635,CAM25636,CAM25637,CAM25638,CAM25639,CAI18483,BAB63313,EAX03361,EAX03362 Hs.485075 C6orf18|HCR|MGC126371|MGC126372|SBP protein-coding 1343153 CCIN calicin The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. 1580863 7641791,12477932,11090452 881 NM_005893,AL158830,CH471071,AA420997,AF333334,AK313763,BC019251,Z46967 NP_005884,CAD13386,EAW58313,EAW58314,AAK20829,BAG36501,AAH19251,CAA87088,Q13939,Q8WWB2,Q8WX35,ABM81752,ABM84906,ABM84908,ABW03306 Hs.115460 GDB:9836954 protein-coding 737505 CCK cholecystokinin Cholecystokinin is a brain/gut peptide. In the gut, it induces the release of pancreatic enzymes and the contraction of the gallbladder. In the brain, its physiologic role is unclear. The cholecystokinin pro-hormone is processed by endo- and exo-proteolytic cleavages. 1625798,1358450,1625802,1625799,1626086,1580863 10320330,18234641,18154642,17964616,17438102,17365745,17332474,17208296,17192493,16185316,15837012,15743365,15740988,15682471,15624269,15533776,15520004,15489334,15354400,15328192,15313848,15100163,15068617,15001692,14764444,12920059,12915664,12789687,12777967,12695525,12627463,12572876,12479974,12477932,12198366,12116188,12116180,12065614,11803530,11724786,11713985,11713982,11713976,11509018,11443535,11368834,11300760,11278902,11232009,11140838,11076522,11025367,10595537,10438490,10400673,9603948,9399627,9275097,9006937,8804068,6529856,6288173,3856870,3582983,3011648,1370477 1625798,1358450,1625802,1625799,1626086 885 NM_000729,AC018358,AY514491,CH471055,L00354,L29399,L29400,AK289716,BC008283,BC093055,BC111026,BT006991,CB961869,CD250282,CR542226 NP_000720,AAR89908,EAW64644,EAW64645,AAA53094,BAF82405,AAH08283,AAH93055,AAI11027,AAP35637,CAG47022,P06307,Q6FG82,ABM92185,ABW03280,ABW03283 Hs.458426 GDB:119050 MGC117187 protein-coding 731770 CCKAR cholecystokinin A receptor This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. 1625802,1580863,1625200,1358451,734711 8343165,8503909,17944886,17597711,17457313,17413452,17413443,16362631,15927089,15786550,15740988,15723764,15634012,15632187,7557108,15363473,15340101,15313848,15108185,15100163,14691070,14534299,12851875,12801592,12777967,12627462,12477932,12424565,12198366,11730982,11549403,11495676,11368834,11300760,10893485,10682840,10595537,10555959,10400673,10026437,9603948,9192855,9006937,7759110,15489334 1625802,1625200,1358451,734711 886 NM_000730,AC093637,CH471069,D85606,U23430,AY322549,BC074987,L13605,L19315 NP_000721,EAW92850,BAA90879,AAA91123,AAP84362,AAH74987,AAA35659,AAA02819,P32238 Hs.129 GDB:141927 CCK-A|CCK1-R|CCKRA protein-coding 735565 CCKBR cholecystokinin B receptor This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. 1358454,1580863 8343165,8222757,8185170,8125298,7887934,7848914,1280419,12477932,12429993,12400008,12198366,12189558,12058027,11926817,11896205,11830556,11515749,11368834,11244486,10913157,10741470,10438490,10100325,9872672,9373149,8995203,8663021,8455720,8415658,10400698,7681836,8349705,18028338,17962809,17936921,17933865,17572695,16998832,16963136,16909104,16547500,16242076,16228228,16143134,16142371,16012719,15989082,15850403,15817487,15611055,15520004,15354400,15313848,15292208,15068617,15040018,15036586,15001692,15001623,14759564,14534299,12955087,12851875,12777967,12761477,12695525,12510010 1358454 887 NM_176875,AC022762,AC068733,AF074029,CH471064,D21219,L10822,AF239668,AF441129,AK226020,AK292064,AY029770,AY322551,BC000740,BT006789,D13305,DQ335648,DQ335649,DQ335650,DQ335651,L04473,L07746,L08112,S70057,S76072 NP_795344,AAC27510,EAW68734,EAW68735,BAA04759,AAC37528,AAF67174,AAN32829,BAF84753,AAK38351,AAP84364,AAH00740,AAP35435,BAA02564,ABC86718,ABC86719,ABC86720,ABC86721,AAA35660,AAA35657,AAB30766,AAB33740,P32239,Q7KYZ8,ABM92194,ABM84663,AAA91831 Hs.203 GDB:136457 CCK-B|CCK2R|GASR protein-coding 1353511 CCL1 chemokine (C-C motif) ligand 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine receptor CCR8. 1580863 9417093,2212659,17845580,17693327,17672898,17641040,17122780,16864713,16735693,16679317,16540498,15814739,15489334,15340161,14630801,12967681,12645948,12489497,12477932,12393595,11818437,11133740,11076863,10985253,10942748,10821677,10648464,10409433,9211859,8077676,2809212,1557400 6346 NM_002981,AB110829,AC011193,CH471147,M57506,BC105073,BC105075,M57502 NP_002972,BAC98367,EAW80204,AAA52705,AAI05074,AAI05076,AAA61196,P22362,Q76BR7,AAI11915 Hs.72918 GDB:118872 I-309|P500|SCYA1|SISe|TCA3 protein-coding 1351854 CCL11 chemokine (C-C motif) ligand 11 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for eosinophils, but not mononuclear cells or neutrophils. This eosinophil specific chemokine assumed to be involved in eosinophilic inflammatory diseases such as atopic dermatitis, allergic rhinitis, asthma and parasitic infections. 1580863 9712872,9578468,9405404,9299399,9169149,8780731,8676064,8642344,8631813,8609214,8597956,8674119,10072545,10201960,10415069,10706854,10708591,9558100,18380907,18312459,18055844,17845580,17827376,17620002,17541284,17220216,17016617,16879311,16872505,16864713,16517749,16510147,16461130,16391516,16184405,16029496,15661912,15537425,15489334,15389872,15223611,15207712,15186951,14733956,14725564,14571188,12916705,12915771,12884299,12477932,12393570,12392390,12370400,12234713,12193745,12192108,12082592,12065904,11991282,11966763,11884459,11742272,11390394,11264152,10734104,10642580,10477718 6356 NM_002986,AB063614,AB063616,AC005549,CH471147,EF064768,U34780,U46572,Z92709,BC017850,BF197516,CR457421,D49372,U46573,Z69291,Z75668,Z75669 NP_002977,EAW80209,ABK41951,AAC50369,AAC51297,CAB07027,AAH17850,CAG33702,BAA08370,AAA98957,CAA93258,CAA99997,CAA99998,P51671,Q6I9T4,ABM82895,ABM86084 Hs.54460 GDB:1230270 MGC22554|SCYA11 protein-coding 1345074 CCL12 chemokine (C-C motif) ligand 12 337987 AF065934 GDB:11510830 1353724 CCL13 chemokine (C-C motif) ligand 13 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. 1580863 9558100,9195948,17824960,17541284,17181634,16855189,16625196,15489334,14560935,12915769,12805085,12731055,12477932,12149192,11597922,11400154,11342433,10734104,10477718,10049733,9405404,9060459,8955214,8661057,8642349,16189514 6357 AC002482,AC011193,AJ000979,CH471147,AJ001634,BC008621,BT007385,CR450337,U46767,U59808,X98306,Z77650,NM_005408,Z77651 NP_005399,AAB67307,EAW80205,EAW80206,CAA04888,AAH08621,AAP36049,CAG29333,AAB38703,AAD09362,CAA66950,CAB01111,CAB01112,O95690,Q6ICQ6,Q99616,ABM82423,ABM85614 Hs.414629 GDB:5875804 CKb10|MCP-4|MGC17134|NCC-1|NCC1|SCYA13|SCYL1 protein-coding 1604060 CCL14 chemokine (C-C motif) ligand 14 This gene, CCL14, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene induces changes in intracellular calcium concentration and enzyme release in monocytes. This gene expresses both monocistronic and bicistronic transcripts. Bicistronic transcripts include the upstream cytokine gene CCL15. In addition, CCL14 undergoes alternative splicing in the bicistronic transcripts; it is unknown if its monocistronic transcript is also subject to alternative splicing. 17353931,8551235,17691823,15489334,15338056,14718574,12477932,11527984,11085751,10978165,10213461,9600961,9405404,8661057 6358 NM_032963,NG_003025,NM_004166,NM_032962,AC004675,AF088219,CH471147,Z49269,BC038289,BC045165,Z49270,Z70292,Z70293 NP_116739,NP_004157,NP_116738,AAC63329,AAF23982,EAW80105,EAW80106,EAW80107,EAW80108,CAA89263,AAH38289,AAH45165,CAA89264,CAA94307,CAA94309,Q16627 Hs.272493,Hs.656286 GDB:5876050 CC-1|CC-3|CKb1|HCC-1|HCC-3|MCIF|NCC-2|NCC2|SCYA14|SCYL2|SY14 protein-coding 1321539 CCL15 chemokine (C-C motif) ligand 15 This gene, CCL15, is one of several CC cytokine genes clustered on 17q11.2. The CC cytokines are secreted proteins characterized by two adjacent cysteines. The cytokine encoded by this gene is chemotactic for T cells and monocytes and induces N-acetyl-beta-D-glucosaminidase release in monocytes. It induces changes in intracellular calcium concentration in monocytes and is thought to act through the CCR1 receptor. This gene expresses both monocistronic and bicistronic transcripts, which encode the same protein. Bicistronic transcripts include the downstream cytokine gene CCL14. Two bicistronic transcripts exist, due to alternate splicing in the CCL14 gene. 1580863 15001559,9346309,9548457,9600961,17296613,16737685,16364464,16034099,15905581,15894113,15340161,15251437,15179048,14984572,12759139,11832479,11527984,10604595,10320325,10213461,9624581,9558365,9129202,8661057 6359 NM_032965,NG_003025,NM_004167,NM_032964,AC004675,AC069363,AF088219,AF031587,U58914,Z70292,Z70293 NP_116741,NP_004158,NP_116740,AAC63328,AAB94617,AAD10847,CAA94306,CAA94308,Q16663 Hs.656286 GDB:5876435 HCC-2|HMRP-2B|LKN1|Lkn-1|MIP-1d|MIP-5|NCC-3|NCC3|SCYA15|SCYL3|SY15 protein-coding 1352726 CCL16 chemokine (C-C motif) ligand 16 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. 1580863 8661057,15001559,9642106,17122780,16226254,15489334,15265943,15034014,14525962,12477932,11470772,10910894,10671294,10235110,10213461,9596672,9545580 6360 NM_004590,AB018249,AC004675,AF039954,AF088219,CH471147,AB007454,AF039955,AF055467,BC096352,BC099662,BC099663,BC099664,U91746 NP_004581,BAA35138,AAC97450,AAC63330,EAW80114,BAA24057,AAC97451,AAC28844,AAH96352,AAH99662,AAH99663,AAH99664,AAC05587,O15467,Q1ED47 Hs.10458 GDB:5876669 CKb12|HCC-4|ILINCK|LCC-1|LEC|LMC|MGC117051|Mtn-1|NCC-4|NCC4|SCYA16|SCYL4 protein-coding 1349365 CCL17 chemokine (C-C motif) ligand 17 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. 1580863,1626251 9743322,8702936,18271928,18224687,18191727,18004070,17979978,17967467,17641031,17565019,17548604,17546636,17517104,17023689,16859899,16583210,15955100,15944327,15813816,15500644,15489334,15474066,15335355,15113590,15047814,14962085,14767451,14747532,14734737,14677179,13679391,12871855,12832759,12715916,12642832,12615364,12615362,12499558,12485447,12477932,12456591,12441140,12413771,12390321,12193695,12126650,12104083,11468146,10737800,10540332,10493829,9691168,9521068,9430724,9169480,9070951 1626251 6361 NM_002987,AC004382,AC009052,CH471092,EF064767,BC069107,BC112066,BC112068,BE061171,D43767 NP_002978,AAC24308,EAW82921,ABK41950,AAH69107,AAI12067,AAI12069,BAA07824,Q92583 Hs.546294 GDB:4562685 A-152E5.3|ABCD-2|MGC138271|MGC138273|SCYA17|TARC protein-coding 1345851 CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses. 1580863 9192897,9233607,17979978,17909104,17900259,17875202,17469163,17181634,16984635,16773571,16736095,16670340,16415274,16169070,15702402,15661937,15494534,15489334,14578205,12805086,12716654,12646652,12626578,12477932,12161279,11978786,11745396,10087196,10049593,9570561,9129202 6362 NM_002988,AB012113,AC069363,AF082212,AF082213,AF082214,AF111198,CH471147,CS115015,AB000221,BC069700,BC096124,BC096125,BC096126,BC096127,CR407660,Y13710 NP_002979,BAA34368,AAC32287,AAD30390,EAW80102,CAJ15096,BAA21670,AAH69700,AAH96124,AAH96125,AAH96126,AAH96127,CAG28588,CAA74039,P55774 Hs.143961 GDB:5560449 AMAC-1|AMAC1|CKb7|DC-CK1|DCCK1|MIP-4|PARC|SCYA18 protein-coding 1321181 CCL19 chemokine (C-C motif) ligand 19 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene may play a role in normal lymphocyte recirculation and homing. It also plays an important role in trafficking of T cells in thymus, and in T cell and B cell migration to secondary lymphoid organs. It specifically binds to chemokine receptor CCR7. 1580863 10861057,9153236,18047937,17881634,17825430,17709502,17597826,17469160,17182562,17082584,16904643,16887149,16678487,16500130,16249377,16081805,15714581,15674360,15546958,15489334,15019823,14871974,14592837,12477932,12474232,11994492,11981810,11929789,11870628,11869682,10706668,9743376,9498785,9235955,9013939,16189514 6363 NM_006274,AJ223410,AL162231,CH471071,EF064766,AB000887,BC027968,CR456868,CR623730,U77180,U88321 NP_006265,CAA11307,CAH69861,CAH69862,EAW58416,ABK41949,BAA20383,AAH27968,CAG33149,AAC50944,AAC23905,Q6IBD6,Q99731,ABM86162,ABW03691 Hs.50002 GDB:5885825 CKb11|ELC|MGC34433|MIP-3b|MIP3B|SCYA19 protein-coding 731046 CCL2 chemokine (C-C motif) ligand 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. 1581155,1581156,1581157,1581158,1581159,1581160,1581161,1581162,1581163,1580863,1580560,1582323,1358456 10623817,9973507,10198043,10770925,9670957,12753088,9548499,9364936,10985244,10942204,18402383,18381789,18274642,18271757,18266131,18230355,18208975,18205260,18203956,18191726,17364892,17379849,17322498,17307163,17284607,17283105,17280738,17262819,17218539,17202846,17187019,17169533,17138827,17098977,17091019,17082648,17065190,17062130,17052731,17032917,17008880,16997300,16988194,16980310,16939660,16934270,16903979,16873204,16872505,16867220,16835702,16828028,16825597,16814297,16804844,16802342,16795034,16781696,16751386,16741188,16733654,16730843,16719905,16712788,16705739,16697654,16697212,16672419,16636603,16636247,16631114,16609683,16597919,16524739,16518346,16516290,16504689,16479072,16474202,16445900,16439891,16439461,16436595,16427785,16415174,16397773,16362156,16359995,16358960,16356504,16352737,16351713,16318581,16309586,16307829,16280979,16280328,16278381,16249002,16230097,16214031,16213182,16206198,16204411,16195477,16164699,16129702,16116069,16105652,16095529,16078996,16050950,16020745,16009638,16009177,16004967,16003740,15979992,15976326,15919935,15900302,15883814,15880317,15866653,15848524,15832427,15780578,15745922,15740484,15722361,15677312,15654958,15627719,15611878,15607028,15602730,15599324,15579297,15545821,15529362,15492853,15489334,15488313,15468376,15466648,15389752,15349727,15312962,15308783,15302103,15296827,15288699,15280531,15257681,15226634,15203564,15191916,15191888,15191525,15188361,15167690,15135805,15123743,15115316,15110609,15082170,15081318,15077296,15041705,15034225,15033992,15022320,15016614,15005768,14767014,14733721,14687706,14660607,14651522,14647058,14620921,14602575,14597108,14576080,14571188,14550782,14517792,14517168,18172114,18164957,18093183,18089573,18069417,18069114,18061474,18060801,18055544,18042260,18040846,18032547,18022660,17982227,17977907,17975143,17968796,17949278,17943082,17940904,17934860,17928143,17920586,17917677,17884268,17822317,17804911,17767550,17763208,17728497,17707134,17704101,17703277,17700210,17694504,17625600,17596666,17530707,17525255,17522215,17495598,17490777,17486299,17485071,17465499,17458901,17431224,17426779,17424890,17417600,17407231,17404035,17395051,17390372,17384985,18186797,13679391,12960255,12957789,12946945,12944979,12904997,12846738,12826377,12826189,12805068,12787135,12758167,12724308,12665582,12651071,12632067,12540965,12520365,12520153,12505750,12488502,12485413,12477932,12473373,12470469,12462338,12460032,12443832,12419245,12413001,12410798,12408680,12399623,12397639,12393171,12391196,12391099,12374865,12372466,12358851,12351486,12239249,12234797,12204371,12195705,12186702,12183528,12149192,12127997,12117737,12093796,12082252,12078856,12067898,12022754,12009356,11999660,11989790,11912219,11776402,11751881,11750041,11544456,11500196,11154208,11145723,11083865,10982368,10918580,10751368,10734104,10706668,10644332,10587439,10542238,10529171,10477718,10453044,10068657,9837883,9792674,9792375,9789057,9558113,9501225,9405404,9287323,8989326,8898111,8639605,8631787,8627182,8195247,8107690,8051410,7651403,2923622,2648385,2518726,2513477,2501656,2465924,2357211,2322286,2071154,2004761,1857712,1661560,17046994,12089333,11878903,16160188,15481145,11313374,16697675,15194470,16750572,16206161,15630704,16189514 1581155,1581156,1581157,1581158,1581159,1581160,1581161,1581162,1581163,1580560,1582323,1358456 6347 NM_002982,AC005549,AF519531,AY357296,CH471147,D26087,M28225,M31626,M37719,X60001,Y18933,AV733621,BC009716,BG530064,BT007329,M24545,M26683,M28226,S69738,S71513,X14768 NP_002973,AAM54046,AAQ75526,EAW80211,EAW80212,BAA05080,AAA60308,AAA36330,AAA18102,CAC14049,AAH09716,AAP35993,AAA18164,AAA96708,AAA60309,AAB29926,AAB20651,CAA32876,P13500,Q6UZ82,ABM84651,ABW03626 Hs.303649 GDB:125279 GDCF-2|HC11|HSMCR30|MCAF|MCP-1|MCP1|MGC9434|SCYA2|SMC-CF protein-coding 1347908 CCL20 chemokine (C-C motif) ligand 20 1580863 18047937,17724069,17664181,17562763,17548638,17295217,17241869,17133360,17075975,16820679,16764701,16531471,16215992,16095490,16034074,15815621,15679580,15671814,15618437,15489334,15474097,15336571,15069060,14714554,12821122,12760962,12684696,12528183,12496186,12477932,12427784,12414801,12356943,12239608,12149255,12067311,12010510,11994436,11994140,11877260,11807793,11532377,11352563,11133838,11083865,11035086,10438902,9038201,10521347,9129037,10601351,10064080,9294137,9223454,9169459,9013939,8076819,15972662,12089333 6364 NM_004591,AC073065,CH471063,BC020698,D86955,U64197,U77035 NP_004582,AAX93214,EAW70877,EAW70878,AAH20698,BAA13191,AAB61534,AAC50943,P78556,ABM82899,ABM87840 Hs.75498 GDB:5875314 CKb4|LARC|MIP-3a|MIP3A|SCYA20|ST38 protein-coding 1323745 CCL21 chemokine (C-C motif) ligand 21 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 (CCR7) that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). 1580863 10861057,9235955,10201891,17982129,17949547,17890452,17881634,17495955,17474076,17469160,17331965,16904643,16887149,16713569,15934082,15863780,15674360,15569314,15546958,15489334,15073111,14978072,14726959,14726633,14709406,14667884,14592837,14517790,12975309,12847218,12707342,12651610,12477932,12393730,12393410,11970971,11943728,11929789,11083865,10706668,9585422,9507024,9419363,9257816,15972662,16189514,9300671 6366 NM_002989,AF030572,AJ005654,AL162231,CH471071,EF064765,AB002409,AF001979,AY358887,BC027918,BI833188,CR450326,CR615435,U88320 NP_002980,AAQ13417,CAA06653,CAH69863,CAH69864,EAW58415,ABK41948,BAA21817,AAB86594,AAQ89246,AAH27918,CAG29322,AAB91454,O00585,Q5VZ73,Q6ICR7,ABM82974,ABM86168 Hs.57907 GDB:6045065 6Ckine|CKb9|ECL|MGC34555|SCYA21|SLC|TCA4 protein-coding 1351526 CCL22 chemokine (C-C motif) ligand 22 This gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. 1580863 10861057,9381181,9151897,9743322,18271928,18224687,18178833,18047937,17979978,17967467,17517104,17008059,16614259,16583210,16453150,15944327,15813816,15714581,15489334,15210758,15187160,15113590,14962085,14747532,14718574,12851650,12715916,12642832,12485447,12477932,12407016,12193695,11981828,11818437,11792124,11390394,11352815,11241286,10493829,9933589,9691168,9430724,9312138,16343773,9826729 6367 AC004382,AC009052,CH471092,BC027952,U83171,U83239,NM_002990 NP_002981,AAC24306,EAW82918,AAH27952,AAB58360,AAB53372,O00626,ABM81848,ABM84237,ABM84998,ABM87624,ABW03327 Hs.534347 GDB:6778391 A-152E5.1|ABCD-1|DC/B-CK|MDC|MGC34554|SCYA22|STCP-1 protein-coding 1348813 CCL23 chemokine (C-C motif) ligand 23 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist at CC chemokine receptor 1. Two alternatively spliced variants encoding different active isoforms have been identified. 1580863 9886417,9104803,18258606,17513790,17371990,16378600,15927850,15905581,15489334,12477932,11060285,10737895,10660125,10409433,10213461,9558365,9187369,9129202,8661057 6368 NM_005064,NM_145898,AC069363,AF088219,CH471147,BC093970,U58913,U67128,U85767 NP_005055,NP_665905,AAC63326,AAC63327,EAW80103,EAW80104,AAH93970,AAD10846,AAD00161,AAB51134,P55773 Hs.169191 GDB:9574083 CK-BETA-8|CKb8|Ckb-8|Ckb-8-1|MIP-3|MIP3|MPIF-1|SCYA23 protein-coding 1321033 CCL24 chemokine (C-C motif) ligand 24 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. 1580863 9104803,10713092,18055844,17917245,17908961,17630924,16391516,16304252,15744457,15580493,15489334,15340161,15207712,14718574,12853948,12477932,12218106,12193745,12192108,12034562,11467997,11286614,11141953,10913244,10415058,9598329,9365122 6369 NM_002991,AC005102,CH471220,AJ223461,BC069072,BC069391,U85768 NP_002982,AAD15410,EAW71772,CAA11383,AAH69072,AAH69391,AAB51135,O00175 Hs.247838 GDB:9574150 Ckb-6|MPIF-2|MPIF2|SCYA24 protein-coding 1313608 CCL25 chemokine (C-C motif) ligand 25 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. 1580863 10640743,9285413,10544196,17510295,16517733,12671049,11825560,11805153,11238115,11046037,10974041,10706668,10498628,10229797,9722960 6370 NM_005624,AC008946,CH471139,AB046579,AI313430,AI961745,AK292662,BC125136,BC130561,CR603063,U86358 NP_005615,EAW68951,EAW68952,BAB62257,BAF85351,AAI25137,AAI30562,AAB69981,O15444,Q08AK2 Hs.310511 GDB:9574254 Ckb15|MGC150327|SCYA25|TECK protein-coding 1344177 CCL26 chemokine (C-C motif) ligand 26 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. 1580863 10373330,18055844,17900656,17541284,17490641,17073866,16604488,16453027,16391516,16264039,16084752,15863444,15784470,15521376,15489334,15207712,15039444,12975309,12853948,12689946,12477932,12192108,12061839,11748272,11544308,11425309,11329013,10488147,10415065,9847074 10344 NM_006072,AC005102,CH471220,EF064763,AA926779,AB010447,AB016542,AF096296,AF124601,AF142434,AY358893,BC069394,BC093773,BC101665,BG211121 NP_006063,AAD15411,EAW71771,ABK41946,BAA84579,BAA36704,AAF09265,AAD22197,AAD46495,AAQ89252,AAH69394,AAH93773,AAI01666,Q9Y258 Hs.131342 GDB:9866039 IMAC|MGC126714|MIP-4a|MIP-4alpha|SCYA26|TSC-1 protein-coding 1312228 CCL27 chemokine (C-C motif) ligand 27 This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene is chemotactic for skin-associated memory T lymphocytes. This cytokine may also play a role in mediating homing of lymphocytes to cutaneous sites. It specifically binds to chemokine receptor 10 (CCR10). Studies of a similar murine protein indicate that these protein-receptor interactions have a pivotal role in T cell-mediated skin inflammation. 1580863,1626250,1626251 15679580,16433680,15598438,15466853,15335355,14767451,12642842,12133963,11821900,11821893,10725697,10725696,10559234,10556532,8889548,10588729,18025475,17581202,16675558 1626250,1626251 10850 NM_006664,AL162231,CH471071,CQ813007,EF064762,AB010445,AF082393,AJ243542,BC037171,BM719357 NP_006655,CAH69860,EAW58421,CAG29883,ABK41945,BAA87046,AAD41238,CAB46983,AAH37171,Q5VZ77,Q8N3Y9,Q9Y4X3,AAI66648 Hs.648124 GDB:9958879 ALP|CTACK|CTAK|ESKINE|ILC|PESKY|SCYA27 protein-coding 1349737 CCL28 chemokine (C-C motif) ligand 28 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. 1580863 10781587,16785557,16581045,16433680,15489334,12671049,12538707,12477932,11825560,11295038,10975800 56477 NM_148672,AC025457,CH471119,CQ813003,AF110384,AF220210,AF266504,BC062668,BC069532 NP_683513,EAW56057,EAW56058,EAW56059,EAW56060,CAG29882,AAG43193,AAF87205,AAG16691,AAH62668,AAH69532,Q9NRJ3 Hs.656904 GDB:11509662 CCK1|MEC|MGC71902|SCYA28 protein-coding 735784 CCL3 chemokine (C-C motif) ligand 3 Macrophage inflammatory protein-1 is a so-called monokine that is involved in the acute inflammatory state in the recruitment and activation of polymorphonuclear leukocytes (Wolpe et al., 1988 [PubMed 3279154]). Sherry et al. (1988) [PubMed 3058856] demonstrated 2 protein components of MIP1, called by them alpha and beta.[supplied by OMIM] 1580863 12651610,12603824,12560229,12543931,12506012,12477932,12447751,12445801,12413001,12401480,12393716,12393595,12377943,12370381,12218153,12200385,12186702,12070155,11861262,11751963,11700073,11461120,11278300,11086082,10985253,10964543,10843431,10751368,10602409,10490959,10477718,10347159,10202040,10201982,10198043,9973507,9885903,9520456,9405404,9366434,9207199,9175116,9092555,8687429,8673475,8613703,8573157,8568261,8541527,8525373,8460127,7695626,7594543,7545673,7537510,3279154,3086300,16379602,16234357,15728180,15602730,15588341,15585099,15489334,15077296,14733721,14680814,12771199,12651617,15001559,10660125,10857861,10734056,10679098,10072545,10841574,10706735,18242850,18196935,18164590,17914560,17656823,17625600,17572013,17357337,17330138,17270460,17005260,16849642,16712957,2271120,3058856,2521882,1972563,1694014,1296815,1004873,16393999,10644351,9653130,10446313,10089882,11023526,16160188,15481145,12089333,11602715,16697675,10820198,9658081,9576751,9420238,9359702,8906795,8898753,15638726,12370346,16354571,15817944,15780175,15142381,12960275,12574335,16507178,16427155,10470075,15531890 6348 NM_002983,AC069363,CH471147,D90144,EF064769,M23178,S82234,X04018,AF043339,BC071834,BX103455,D00044,D63785,M23452,M25315,X03754 NP_002974,EAW80100,BAA14172,ABK41952,AAA35858,AAB47170,CAA27643,AAC03539,AAH71834,BAA00029,BAA09855,AAA36316,AAA57255,CAA27388,P10147,Q14745 Hs.514107 GDB:120368 G0S19-1|LD78ALPHA|MIP-1-alpha|MIP1A|SCYA3 protein-coding 1345914 CCL3L1 chemokine (C-C motif) ligand 3-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene and a partial pseudogene. This record represents the more telomeric full-length gene. 1580863 17971457,17952079,17874089,17604289,17330138,17062725,15962231,15728180,15637236,15489334,15340161,15028295,12477932,12355456,11734558,11449371,11390394,10961862,10471782,10364178,8661057,7566098,2271120,1972563,1694014,1296815 6349 NM_021006,NG_004113,AC131056,D90145,M24110,AA362164,AV739733,BC027888,BC107710,X52149 NP_066286,BAA14173,AAA35859,AAH27888,AAI07711,CAA36397,P16619 Hs.512683 GDB:134032 464.2|D17S1718|G0S19-2|LD78|LD78BETA|MGC104178|MGC12815|MIP1AP|SCYA3L|SCYA3L1 protein-coding 1604917 CCL3L2 chemokine (C-C motif) ligand 3-like 2 15028295,12355456,1296815 390788 NG_004113,AC131056,D12592 G0S19-3|LD78gamma|SCYA3L2 pseudo 1605181 CCL3L3 chemokine (C-C motif) ligand 3-like 3 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein binds to several chemokine receptors including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals; most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. The human genome reference assembly contains two full copies of the gene and a partial pseudogene. This record represents the more centromeric full-length gene. 1694014,2271120,15728180,15028295,12477932,12355456,11734558,10364178,8889548,8661057,7566098,1972563,1296815 414062 NM_001001437,NG_004113,AC131056,AA380745,AI302038,BC007783,BC063472,BT006783,CF128666 NP_001001437,AAH07783,AAP35429,P16619 Hs.512304,Hs.512683 464.2|D17S1718|LD78|LD78BETA|MGC12815|SCYA3L|SCYA3L1 protein-coding 1353278 CCL4 chemokine (C-C motif) ligand 4 1580863 10929056,9973507,9759849,2521882,9743377,9558100,10841574,18203956,17644519,17330138,17005260,16963564,16773571,16625196,16379602,15897346,15843566,15831560,15645140,15588341,15585099,15529362,15489334,14761932,14746807,14718574,14673550,14582706,12679478,12651610,12603824,12477932,12445801,12427015,12411442,12401480,12393716,12393595,12377943,12218153,12200385,12070155,12036855,11751963,11685466,11470920,11278300,11129109,10985253,10900358,10751368,10608777,10540332,10395844,10049593,9521068,9520456,9405404,8663314,8661057,8525373,8134838,8077676,7622448,7594543,7566098,2809212,2568930,2521353,2462251,2247088,1972563,1894635,9256481,16393999,16841089,10938094,10089882,11023526,16160188,15481145,12089333,11602715,16697675,15638726,12574335,10470075,11485305,11313374,10820198,10644351,9658081,9576751,9420238,9359702,8906796,8906795,8898753,16354571,15817944,15780175,15142381,12370346 6351 NM_002984,AC069363,AY766459,CH471147,AA362169,AY312578,AY766446,AY766448,BC027961,BC104226,BC104227,BC107433,CR542119,J04130,M23502,M25316,M57503,X16166,X53683 NP_002975,AAX07292,AAX07293,EAW80098,AAR16183,AAX07305,AAX07307,AAI04227,AAI04228,AAI07434,CAG46916,AAA51576,AAA36656,AAA57256,AAA36752,CAA34291,CAA37723,P13236,Q6JSE0,Q7M4M2 Hs.75703 GDB:120369 ACT2|AT744.1|G-26|LAG1|MGC104418|MGC126025|MGC126026|MIP-1-beta|MIP1B|MIP1B1|SCYA2|SCYA4 protein-coding 1354210 CCL4L1 chemokine (C-C motif) ligand 4-like 1 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more centromeric gene. 18464913,18368065,17330138,16625196,15843566,15489334,15028295,14673550,12477932,12401480,12355456,12070155,11685466,10540332,9521068,8661057,8525373,8134838,2809212,2568930,2521882,2521353,2462251,2247088,1972563,1894635 9560 NM_001001435,NG_004113,AC131056,AX400017,AY079147,AY766460,X53682,AY766447,AY766449,AY766450,AY766451,AY766452,AY766453,AY766454,AY766455,AY766456,AY766457,AY766458,BC070310,BC092445,BC130456,BC130458,CD366524,CD521054 NP_001001435,CAD33461,AAL87008,AAX07294,CAA37722,AAX07306,AAX07308,AAX07309,AAX07310,AAX07311,AAX07312,AAX07313,AAX07314,AAX07315,AAX07316,AAX07317,AAH70310,AAI30457,AAI30459,Q8NHW4,AAI46446,AAI48785,AAH92445 Hs.655293,Hs.661942 AT744.2|CCL4L|LAG-1|LAG1|SCYA4L chemokine (c-c motif) ligand 4-like protein-coding 1604447 CCL4L2 chemokine (C-C motif) ligand 4-like 2 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. This protein is similar to CCL4 which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals; most individuals have 1-5 copies in the diploid genome, although rare individuals do not contain this gene at all. The human genome reference assembly contains two copies of this gene. This record represents the more telomeric gene. 16625196,15843566,15489334,15028295,14673550,12477932,12401480,12355456,12070155,10540332,9521068,8661057,8525373,8134838,2809212,2568930,2521882,2521353,2462251,2247088,1972563,1894635 388372 NM_207007,NG_004113,AC131056,AY766460,AY766461,M69203,AY766447,AY766449,AY766450,AY766451,AY766452,AY766453,AY766454,AY766455,AY766456,AY766457,AY766458,BC070310,BC092445,BC130456,BC130458 NP_996890,AAX07295,AAX07296,AAX07297,AAX07298,AAX07299,AAX07300,AAX07301,AAX07302,AAX07303,AAX07304,AAB00790,AAX07306,AAX07308,AAX07309,AAX07310,AAX07311,AAX07312,AAX07313,AAX07314,AAX07315,AAX07316,AAX07317,AAH70310,AAH92445,AAI30457,AAI30459 Hs.655293,Hs.661942 AT744.2|CCL4L|SCYA4L protein-coding 1604061 CCL5 chemokine (C-C motif) ligand 5 This gene is one of several CC cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor CCR5 and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. 1626251 15001559,10770925,10734056,10910894,9558100,10713092,10640778,10415069,10490959,10583963,18461620,18447907,18426815,18385174,18361934,18306985,18217191,18195571,18191726,18186796,18162936,18060801,17990036,17989610,17986095,17984846,17922439,17909104,17884183,16614115,16564576,16517749,16511411,16507178,16489254,16468043,16442182,16441357,16437690,16379602,16340468,16323127,16314800,16254204,16246299,16239564,16161154,16078996,16046258,16032408,16029496,16024972,15978191,15971427,15923218,15863470,15851378,15850807,15848524,15794069,15793370,15781227,15742444,15740484,15715189,15645140,15611878,15609310,15602730,15592421,15588341,15537425,15500552,15489334,15488313,15482330,15471370,15468376,15459010,15899487,15890969,15368437,15319853,15302103,15280531,15265023,15256089,15239133,15228586,15192276,15140220,15122808,15064621,15021309,15001640,14687706,14687494,14651522,14647058,14637022,12960233,12858455,17728497,17700210,17678915,17678722,17674321,17653092,17625600,17620002,17599774,17596666,17585540,17565659,17560067,17541284,17540042,17530998,17519498,17504241,17494888,17488389,17426779,17417600,17416433,17413295,17328045,17305874,17207890,17202846,17117952,17112859,17101151,17076674,17075265,17074812,17063508,17038526,17027916,17018392,17016617,17015691,17005260,16997300,16995340,16988194,16911685,16897666,16865553,16864989,16864713,16855620,16807236,16799229,16791620,16719905,16635746,12847218,12842758,12837926,12819030,12803993,12789231,12763925,12753088,12668159,12663241,12660426,12610055,12557141,12509457,12477932,12475226,12462338,12445801,12377943,12359436,12270118,12218153,12204866,12200463,12173306,12165487,12139952,12114533,12093895,12081195,11976403,11959378,11929421,11920567,11907119,11897701,11844139,11816717,11751963,11750041,11544456,11509627,11500196,11390394,11197694,11125885,11116158,11083865,10985253,10964543,10477718,10213461,10200305,9889151,9517988,9516414,9469451,9405404,12164740,12154092,9289016,9009162,8663314,8642344,8576227,8573157,8525373,7545673,7542919,7537088,2456327,1691736,1380064,9256481,16841089,12089333,11878903,10872839,9826729,15481145,12953261,11602715,11313374,16697675,16206161,15630704,10882583,10820198,10775626,10774549,10644351,9576751,9420238,9359702,8976200,8898753,15857508,16354571,15817944,15780175,16393999,16343773,15142381,16189514 1626251 6352 NM_002985,AB023652,AB023653,AB023654,AC015849,AF088219,CH471147,DQ017060,AF043341,AF266753,BC008600,BG272739,DQ230537,M21121 NP_002976,BAA76937,BAA76938,BAA76939,AAC63331,EAW80120,AAY22177,AAC03541,AAF73070,AAH08600,ABB69929,AAA36725,P13501,Q9UBL2,ABM82416,ABM85607 Hs.514821 GDB:120749 D17S136E|MGC17164|RANTES|SCYA5|SISd|TCP228 protein-coding 1347484 CCL6 chemokine (C-C motif) ligand 6 6353 AK002697 GDB:595493 1352377 CCL7 chemokine (C-C motif) ligand 7 This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a member of the C-C subfamily of chemokines which are characterized by having two adjacent cysteine residues. The protein is an in vivo substrate of matrix metalloproteinase 2, an enzyme which degrades components of the extracellular matrix. This gene is part of a cluster of C-C chemokine family members on chromosome 17q. 1580863 9364936,9346360,9109648,8898111,8642344,8580362,8530354,8461011,8318676,7545673,1613466,10770925,7916328,9780207,10201901,17364026,17023422,16002730,15715950,15489334,15381085,15340161,15194816,14733956,14571188,13679391,12847692,12539042,12477932,12149192,12127674,12098517,11781181,11146155,10947989,10734104,10570327,10525044,10477718,10205198,9789057,9405404 6354 NM_006273,AC005549,CH471147,X72309,AF043338,BC070240,BC092436,BC112258,BC112260,X71087 NP_006264,EAW80210,CAB59723,AAC03538,AAH92436,AAI12259,AAI12261,CAA50405,CAA50406,CAA50407,P80098,Q7Z7Q8 Hs.251526 GDB:138473 FIC|MARC|MCP-3|MCP3|MGC138463|MGC138465|NC28|SCYA6|SCYA7 protein-coding 1349694 CCL8 chemokine (C-C motif) ligand 8 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils. By recruiting leukocytes to sites of inflammation this cytokine may contribute to tumor-associated leukocyte infiltration and to the antiviral state against HIV infection. 1580863 9468473,9119400,10734056,18256320,17487826,15644410,15607028,15489334,14647058,13679391,12539042,12477932,12149192,11087354,11083865,10734104,10477718,9730840,9558113,9405404,9115216,9070881,9005985,8898111,8661057,8189067,2518726,1613466 6355 NM_005623,AC011193,CH471147,X99886,Y18047,BC126242,Y10802,Y16645 NP_005614,EAW80207,EAW80208,CAA68168,AAI26243,CAA71760,CAA76341,P80075 GDB:4642753 HC14|MCP-2|MCP2|SCYA10|SCYA8 protein-coding 1345553 CCL9 chemokine (C-C motif) ligand 9 337988 AF128195 GDB:11510831 1317623 CCM2 cerebral cavernous malformation 2 1600689,1580863 16037064,14740320,17657516,17440989,17290187,17160895,16769843,16373645,16239636,15498874,15489334,14702039,14624391,12774951,12690205,12477932,9811928 1600689 83605 NM_001029835,AC004847,AC013416,AL832992,CH236960,CH471128,AF370392,AI538498,AK025807,AK098005,AK124060,BC004903,NM_031443,BC008859,BC016832,BC025958,BC063663,BX641167,CR596053,CR599466,CR600732,CR602233,CR604060,CR607004,CR618287,CR618439,CR618943,CR621631 NP_113631,NP_001025006,CAH56307,EAL23746,EAW61058,EAW61059,EAW61060,EAW61061,EAW61062,EAW61063,EAW61064,EAW61065,EAW61066,AAQ15228,AAH04903,AAH08859,AAH16832,AAH25958,AAH63663,Q658T9,Q6P456,Q9BSQ5 Hs.148272 GDB:9955490 C7orf22|MGC4067|MGC4607|MGC74868|PP10187 protein-coding 1348981 CCM3 cerebral cavernous malformation 3 9811928 9226 GDB:9955492 1321661 CCNA1 cyclin A1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 15232106,17353931,9843212,9041194,11256614,17530187,17455244,17098733,17047026,16799873,16449996,16381901,16007189,15829981,15489336,15456866,15342377,15159402,12579332,12477932,12121569,11884610,11733001,11381140,11264176,11172814,11076863,10926775,10559988,10373534,10196209,10068680,10068472,10022926,9373149,9244350,8565853,8125298,7969176,7478582,15050687,12628165,16189514,15649124,8463339 8900 CD171793,CR616879,DC395631,DC396283,DC411883,U66838,U97680,NM_003914,NM_001111045,NM_001111046,NM_001111047,AF124143,AL359767,CH471075,AA553454,AK225146,BC035479,BC036346,BG723613,BT019577 AAV38384,AAB49754,AAB60863,P78396,Q0JTB3,Q5T3V0,Q5U0G2,Q8IY91,Q9UNG8,CAL38250,ABM82229,ABM85414,NP_003905,NP_001104515,NP_001104516,NP_001104517,AAD26337,CAI12728,EAX08565,EAX08566,AAH36346 Hs.417050 GDB:9957835 protein-coding 1348754 CCNA2 cyclin A2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. In contrast to cyclin A1, which is present only in germ cells, this cyclin is expressed in all tissues tested. This cyclin binds and activates CDC2 or CDK2 kinases, and thus promotes both cell cycle G1/S and G2/M transitions. 1580863,2293344,2293347,2293346,2293348 15890360,17254966,1312467,16109376,17698606,17636382,17593077,17495531,17445807,17359356,17316413,17255290,17208191,17013808,17001081,16823179,16774918,16708383,16670718,16540140,16407256,16398674,16344560,15815621,15671017,15649889,15601848,15489334,15199159,15187102,14993212,14749377,14747563,14646596,14645522,14579410,12742823,12673206,12601350,12501191,12477932,12444551,12439743,11980909,11907280,11896577,11884610,11698641,11310559,11238922,10924145,10884347,10871850,10864927,10679238,10673397,10581175,10540350,10525536,10373534,9889196,9858587,9820826,9660973,9632134,9566895,9244350,9199321,9020058,8756328,8684460,8662825,8626584,8502485,8253383,8230483,8202514,8024548,7969176,7630397,1967822,1962755,1830372,1675006,1532458,1387877,15050687,12853968,12947099,14695896,15649124,16009130,10766737,15469821,8475101,15652749,8423786,15782160,15674323,15558010,15306814 2293344,2293347,2293346,2293348 890 NM_001237,AC079341,AF518006,CH471056,X68303,AK291931,AW276578,BC104783,BC104787,CR407692,CR597266,CR604810,DA748568,X51688 NP_001228,AAY40969,AAM54042,EAX05246,CAA48375,BAF84620,AAI04784,AAI04788,CAG28620,CAA35986,P20248 Hs.58974 GDB:125211 CCN1|CCNA protein-coding 733179 CCNB1 cyclin B1 The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). Two alternative transcripts have been found, a constitutively expressed transcript and a cell cycle-regulated transcript, that is expressed predominantly during G2/M phase. The different transcripts result from the use of alternate transcription initiation sites. 1358139,1580863 1717476,10395539,1384126,1828290,7799941,11598127,12791267,16109376,18337751,18281511,18195732,18048386,17881737,17668170,17655707,17598982,17533373,17513602,17495533,17495531,17472438,17466630,17445807,17408621,17388661,17386261,17373649,17359356,17359284,17242210,17242184,17167975,17098733,16880739,16784539,16614707,16557593,16478538,16322753,16273239,16237118,16221667,16142332,16009132,15931389,15790566,15767402,15710382,15635413,15541388,15489334,15215233,15181148,15016823,14760118,14645578,12865421,12839990,12775724,12738867,12684677,12612082,12586340,12515609,12483522,12477932,12468530,12447691,8756624,9001210,10373560,11285280,10793135,11960377,11878934,11809526,11779217,11732576,11691994,11642719,11572993,11559705,11531413,11444800,11310559,11260656,11242082,10958988,10921877,10864927,10716937,10581175,10459014,10421840,9926943,9813064,12424202,12397081,12379461,12200597,12124778,12115375,12110603,12068134,12054478,12009577,9679058,9560267,9520381,9499405,9244350,9094673,8662825,8402895,8101826,7876309,7843284,7737117,7666531,7494303,7474100,7474080,2570636,1836978,1387877,1386342,8524869,16751065,15265780,9891079,10362260,15989971,15916961,15654331,8475101,9515786,11331587,8070405,8463339 891 AC010273,AC022107,AY338491,CH471137,S74452,U22364,AI972071,AK289431,AY027761,AY027762,AY027763,AY027764,AY027765,AY027767,AY027768,AY027769,AY027770,NM_031966,BC006510,BC018868,BT020128,CR590390,CR591674,CR591844,CR602024,CR602926,CR605788,CR608657,CR612103,CR613568,CR613907,CR619355,CR622796,M25753 NP_114172,AAP88038,EAW51306,AAD14154,AAD14818,BAF82120,AAK27417,AAK27418,AAK27419,AAK27420,AAK27421,AAK27422,AAK27423,AAK27424,AAK27425,AAH06510,AAV38930,P14635,Q5TZP9,Q9BPX9,Q9BWU7,Q9BWU8,Q9BWU9,Q9BWV0,ABM83901 Hs.23960 GDB:128965 CCNB protein-coding 1342952 CCNB1IP1 cyclin B1 interacting protein 1 HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM] 1580863 12612082,16532029,16381901,16344560,16189514,15489336,15489334,14702039,12477932,11230166,11076863,9373149,8889549,8125298 57820 NM_182849,NM_021178,NM_182852,NM_182851,AL355075,AL356019,CH471078,CS072465,AA101731,AF216381,AK026233,AK225253,AK225451,AK226037,AL161994,BC000369,BC001218,BC004435,BI771433,BI917081,BM741413,BX161423,BX161424,BX247978,CB113193,CR591184,CR593880,CR596432,CR601801,CR603010,CR605480,CR611584,CR612618,CR621988,CR624788,DB029392 NP_878269,NP_067001,NP_878272,NP_878271,EAW66479,CAI93603,AAF36386,BAB15403,CAB82326,AAH00369,AAH01218,AAH04435,CAD61896,CAD61897,CAD62312,Q0JSI7,Q9NPC3,CAL37971,CAL38527 Hs.107003 C14orf18|HEI10 protein-coding 1317801 CCNB2 cyclin B2 Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. 1580863 12110603,11960377,11878934,11531413,11230166,11076863,10958988,10921877,9926943,9560267,9539739,9520381,9373149,9094673,8125298,8070405,7737117,7666531,7494303,7474100,7474080,15232106,1717476,11256614,17549666,17533373,17388661,17289878,16381901,15489336,15489334,14718574,14702039,12727876,12482752,12477932 9133 NM_004701,AC092757,AY864066,CH471082,AB020981,AF002822,AF087910,AK001404,AK222611,AL080146,BC105086,BC105112,BT019458,CR533527,CR600767,CR606395,CR607796,CR608686,CR608927,CR624496 NP_004692,AAW34361,EAW77563,BAA78387,AAD09309,AAP97207,BAD96331,CAB45739,AAI05087,AAI05113,AAV38265,CAG38558,O95067,Q53HG9,Q5U0M0,Q7Z4Z4,CAL38454 Hs.194698 GDB:134034 HsT17299 protein-coding 1352366 CCNB3 cyclin B3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chick and Drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and be required for proper spindle reorganization and restoration of the interphase nucleus. Two transcript variants encoding different isoforms have been found for this gene. 1580863 15790807,12185076,12110603,11878934,11846420,11531413,10958988,10921877,9560267,9520381,9094673,8313904,7666531,7494303,7474100,7474080 85417 AJ314764,AJ314765,AJ314766,AJ416458,AJ421672,AJ421673,AJ421674,AK292454,AL137550,AY927611,NM_033031,NM_033670,AL591367,BX323840,CH471180 CAC40024,CAC40025,CAC40026,CAC94915,CAD18845,CAD18846,CAD18847,BAF85143,CAB70806,Q5HYQ0,Q5HYQ1,Q5HYQ2,Q8WTR6,Q8WWL7,NP_149020,NP_391990,CAI43220,CAI43221,EAW89920,EAW89921,EAW89922,EAW89923 Hs.130310 GDB:11505722 protein-coding 736281 CCNC cyclin C The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7568034,17385550,17089020,16341674,15863722,15175163,15084261,14574404,12600719,12584197,12477932,11416138,10235266,10198638,10024883,9734358,9710619,9443979,9373149,9121429,8833152,8700522,8125298,7738192,7698009,1833066,1260071,9150135,14576168 892 NM_001013399,AL137784,CH471051,U40739,AB125137,AK130983,AK222768,AK223247,AK291914,BC010135,BC026272,NM_005190,BC030159,BC041123,BC050726,BC056153,BM788717,CR595249,M74091 NP_005181,NP_001013417,CAC14563,CAI19762,EAW48465,EAW48466,EAW48467,EAW48468,AAC50825,BAD00144,BAF84603,AAH10135,AAH26272,AAH41123,AAH56153,P24863,Q53FN5,Q53H13,Q6PI04,Q7Z4L3 Hs.430646,Hs.633351 GDB:128966 CycC protein-coding 68556 CCND1 cyclin D1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. 704385,1581171,704405,1358139,1580863,704404,704417,704409,2289126,2289128,2289133,2289283,2289336,2289127,2289129,2289130,2289132,1625408,2289139,2289144,2289145,2289147,2289131,2289134,2289337 15232106,17254966,17274640,17334399,8114739,17420273,9106657,11256614,16407831,16406195,16399423,16381901,16343742,16341674,16334487,16328437,16322291,16273238,16258756,16258726,16226824,16207592,16174239,16172916,16166625,16163738,16163549,16155412,16142313,16131791,16123218,16115225,16051426,15981100,15971196,15951563,15951302,15949570,15943036,15923181,15914210,15900590,15896460,15878868,15870300,15863141,15862753,15861516,15856299,15845652,15824172,15811121,15809880,15791567,15776189,15755896,15754315,15735724,15734847,15709184,15695117,15684604,15668481,15655836,15621754,15580291,15578074,15558026,15557752,15557280,15551329,15545188,15544931,16461912,9190208,16782892,18459109,18413827,18413612,18361427,18355450,18349392,18347178,18343791,18341653,18306932,18301453,18281541,18251939,18239461,18237245,18226366,18205772,18197291,18196581,18194538,18194492,18187454,18182398,18180298,18174243,18079202,18067636,18063576,18061526,18056951,18047954,18027856,18019405,18006821,18006686,17960397,17941827,17935714,17934069,17927591,17923265,17922974,17916995,17912028,17908995,17901853,17882269,17881732,17868090,17855508,17848143,17804732,17724472,17720094,17698033,17695500,17693985,17684142,17629555,17616699,17616526,17607588,17606765,17606477,17605237,17600882,17561354,17556661,17549378,17525627,17524364,17517369,17509221,17499716,17486065,17482347,17447856,17438373,17427198,17409409,17398034,17393422,17344214,17316413,17310991,17308274,17299095,17284370,17278098,17240151,17207971,17203214,17203162,17198740,17188136,17139501,17116943,17106256,17090192,17081987,17070615,17046823,16980615,16959222,16942622,16940298,16924241,16916940,16912209,16884382,16870553,16865250,16860316,16843438,16832876,16829689,17022831,17011980,16820873,16815198,16804724,16788380,16783567,16776827,16732330,16723714,16705174,16699726,16691626,16691558,16690963,16672066,16645724,16644723,16638786,16616093,16614728,16614707,16601140,16569215,16568089,16552496,16547504,16508013,16507767,16495921,16490596,16488657,12824903,12808109,12807740,12778072,12761882,12759391,12746453,12743597,12738746,12707028,12694349,12692418,12680219,12673692,12634633,12607604,12606305,12601350,12594215,12589056,12582032,12569141,12557224,12554669,12539042,12515730,12480939,12477932,12455063,12444551,12439750,12394763,12391146,12388769,12379776,12376514,12364325,12237776,12231535,12209953,12203362,12164325,12151312,12150453,12138206,12127555,12101670,12097293,12096344,12067972,12825853,15539430,15538282,15513923,15505422,15498584,15489336,15489334,15378006,15377668,15375804,15355984,15350626,15297421,15282324,15245939,15239347,15226187,15225161,15203873,15153436,15138714,15133490,15128059,15090460,15063389,15060836,15059606,14981950,14966901,14767060,14764597,14759115,14754892,14720512,14703063,14701845,14689059,14688016,14679024,14666699,14666673,14666635,14657069,14646596,14645576,14645506,14641107,14612904,14530270,12972956,12965081,12955092,12937137,12930597,12921950,12917338,12917336,12914697,12899785,12896908,12894561,12883749,12883688,12036951,12036934,12036906,12036888,12024041,12007188,12006580,12002755,11992406,11986316,11958128,11948404,11935308,11923474,11902820,11896626,11884610,11872630,11870667,11838966,11836555,11815623,11813305,11788592,11751903,11739795,11739785,11698641,11698342,11696452,11642719,11470749,11311237,11279133,11126356,12048199,11076863,11073968,11042687,10910956,10908655,10850422,10801854,10645009,10581175,10500095,10371345,10353443,10344732,10318892,9926939,9837900,9832503,9832502,9661876,9626345,9426067,9380698,9244350,9150368,9050835,9039267,8887674,8826947,8657154,8643455,8490963,8302605,8204893,8159685,8134134,8101826,8058751,8058338,7908906,7739547,7733934,7687458,7665234,7568034,7478582,6610211,1833629,1833066,1827756,1826542,1682919,1386335,16436505,12241561,15897899,8999999,15950906,15893730,15808510,12867429,11805292,9632134,15592430,8662825,15688030,9228064,15652748,15172998,1535701,1532244 704385,1581171,704417,704409,2289126,2289128,2289133,2289283,2289336,2289127,2289129,2289130,2289132,1625408,2289139,2289144,2289145,2289147,2289131,2289134,2289337 595 CR605397,CR624763,M64349,M73554,M74092,X59798,NM_053056,NG_007375,AF511593,AP001824,AP001888,CH471076,L09054,Z29078,AB075505,AY830112,BC000076,BC001501,BC014078,BC023620,BC025302,BM796500,BT019844,BT019845,CR536538,CR542099,CR602163 AAA52136,AAA58392,CAA42470,P24385,Q14092,Q5MGB2,Q6FI00,Q9H014,CAL38071,CAL38308,CAL38470,ABM82774,ABM85964,NP_444284,AAM34300,EAW74746,EAW74747,EAW74748,AAA36481,CAA82318,AAV91344,AAH00076,AAH01501,AAH14078,AAH23620,AAH25302,AAV38647,AAV38648,CAG38775,CAG46896 Hs.523852,Hs.523854 GDB:128222 BCL1|D11S287E|PRAD1|U21B31 protein-coding 730903 CCND2 cyclin D2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. 1581171,1580863,2289152,2289159,2289160,2289180,2289181,2289149,2289150,2289151,2289153,2289156,2289157,2289154,2289155,2289158 11896535,8114739,18281541,18174243,17882269,17873913,17486076,17409409,17016690,16548914,16189514,15797629,15755896,15613482,15509806,15489334,15245432,15169570,15065884,14641107,14612939,14601057,14581343,12777997,12771922,12477932,12112307,11992406,11839508,11726322,11469683,11358847,11301189,11289162,11285977,11254678,11209538,11042687,10508165,10398124,9858559,9422379,9003781,8945475,8887674,8621559,8455931,8343202,8125298,7739547,1386336,1386335,15735688,15531890,11291051,9373149 1581171,2289152,2289159,2289160,2289180,2289181,2289149,2289150,2289151,2289153,2289156,2289157,2289154,2289155,2289158 894 NM_001759,AC006122,AF518005,CH471116,M88080,M88081,M88082,M88083,AK223577,AK291146,BC010958,BC014357,BC089384,BT019847,BX647508,CR600898,D13639,M90813,X68452 NP_001750,AAM54041,EAW88851,AAA51928,BAD97297,BAF83835,AAH10958,AAH89384,AAV38650,BAA02802,AAA51926,CAA48493,P30279,Q53ER2,ABM83771,ABM87090 Hs.376071 GDB:128968 KIAK0002|MGC102758 protein-coding 1347204 CCND2P cyclin D2 pseudogene 1386336,1386335 895 NG_001092,AP001880,M91003 GDB:128970 pseudo 736176 CCND3 cyclin D3 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. 1580863,1581171 14702039,14666699,14645576,14641107,14576819,14574404,12890807,12778072,12647795,11896535,15232106,17274640,17517622,8114739,18281541,18174243,18019405,17885491,17882269,17698582,17467662,17413032,17409409,17300668,16920920,16916940,16884382,16815849,16569260,16360641,16322284,16303160,16300731,16287839,16189514,16105657,15755896,15671552,15569667,15489334,15358120,15327989,15326477,15305377,15252116,14747476,12611887,12482873,12477932,12130539,12082095,12036888,12011445,11895902,11864973,11726322,11469683,11375949,11360184,11301189,11042687,10891505,10398124,10342870,10318807,9858559,9713342,8887674,8668211,8621559,8490963,7908906,1387066,1386336,1386335,1383201,15050687 1581171 896 NM_001760,AF517525,AL160163,CH471081,M88085,M88086,M88087,U47285,AB209825,AK055519,AK057206,AK096276,AK097856,BC011616,CR542246,CR598035,CR598524,CR600566,CR605119,CR606656,CR613159,CR613463,CR620389,CR620441,CR624358,CR626223,M90814,M92287 NP_001751,AAM51826,CAI23490,CAI23491,EAX04070,EAX04071,EAX04072,EAX04073,EAX04074,EAX04075,EAX04076,AAA51929,BAD93062,AAH11616,CAG47042,AAA51927,AAA52137,P30281,Q59EI6,Q6FG62,ABM82674,ABM86056 Hs.534307 GDB:128969 protein-coding 1350463 CCND3P cyclin D3 pseudogene 1386336,1386335 897 NG_001093,M90815 GDB:128971 pseudo 1312246 CCNDBP1 cyclin D-type binding-protein 1 This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Two alternatively spliced variants, which encode distinct isoforms, have been reported. 1580863 12437976,17621266,17532760,16501603,16303743,16189514,12477932,12434312,10915743,10915734,10854051,10801854,9373149,8125298 23582 NM_037370,AC068724,CH471125,AF082569,AF087852,AF113535,AF132034,AF246144,AK075146,AK075296,AK124193,AK128849,AK225143,AK225645,AK290665,AK290707,AL552334,BC009689,CR450331,CR590244,CR591004,CR591024,CR593640,CR597699,CR598585,CR603048,CR604971,CR605918,CR607520,CR607951,CR609296,CR614852,CR616591,CR617044,CR619163,CR620088,CR622678,NM_012142,CR623091,CR623865,CR623887 NP_036274,NP_411241,EAW92588,EAW92589,EAW92590,AAD11777,AAP97163,AAF14872,AAF77613,AAF67182,BAC11433,BAC11530,BAC87645,BAF83354,BAF83396,AAH09689,CAG29327,O95273,ABM85050 Hs.36794 GDB:9865693 DIP1|GCIP protein-coding 736488 CCNE1 cyclin E1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been described. Two additional splice variants were reported but detailed nucleotide sequence information is not yet available. 1358139,1580863,2289228,2289266,2289273,2289336,2289225,2289229,2289230,2289231,2289255,2289267,2289268,2289277,2289281,2289283,2289287,2289293,2289296,2289337,2289265,2289335 15572661,9891079,8207080,7799941,11907280,7629134,10454565,18301453,18281541,18174243,18047954,17664332,17409409,17360482,17325036,17218276,16912169,16823179,16799991,16761619,16740753,16627785,16609025,16582606,16538501,16504183,16391523,16344560,16322693,16124066,15800668,15709169,15708847,15665273,15660127,15611651,15557791,15489334,15467469,15197178,15191351,15178429,15060836,15007381,14965268,14719078,14645251,14612403,14536078,12824885,12778072,12777997,12729791,12647795,12607005,12601350,12553912,12533700,12477932,12444551,12133429,12114499,12101670,12096344,12096339,11919196,11884622,11877298,11838966,11733001,11565033,11533444,11259605,11237742,11221854,11175348,10995387,10995386,10953010,10908655,10851086,10827081,10751146,10581175,10500095,10499591,9840943,9819444,9731206,9525916,9472014,9223324,9192874,9153308,9012818,8861947,8833152,8756624,8649818,8618861,8617791,8253383,8230483,7739542,7698009,1833068,1833066,1388288,1388095,9453249,16289656,15343382,11085541,12839982,12628165,15469821,14739463,9632134,8662825,14999283 2289228,2289266,2289273,2289336,2289225,2289229,2289230,2289231,2289255,2289267,2289268,2289277,2289281,2289283,2289287,2289293,2289296,2289337,2289265,2289335 898 NM_001238,NM_057182,AC008798,AF518727,L48996,U40787,U40788,X95406,AK291549,AU137789,BC035498,BE645164,CR591189,CR593053,CR601172,M73812,M74093 NP_001229,NP_476530,AAM54043,AAA83269,CAA64687,CAA64688,BAF84238,AAH35498,P24864,ABM84309,ABM87702 Hs.244723 GDB:128967 CCNE cyclin e protein-coding 1317175 CCNE2 cyclin E2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. 1580863 9840943,15232106,9858585,7799941,11907280,7629134,10454565,16740753,16620772,12477932,12466974,9840927,8889549 9134 BC007015,BC020729,BG720611,NM_057749,AC087752,AP003692,AY850195,CH471060,AA830205,AF091433,AF102778,AF106690,AF112857 AAD08819,AAH07015,AAH20729,O96020,Q7Z774,Q8WUE3,ABM84420,ABM87365,NP_477097,AAV97813,EAW91727,EAW91728,EAW91729,EAW91730,EAW91731,EAW91732,AAC80528,AAC78145,AAD08816 Hs.567387 GDB:9955086 CYCE2 protein-coding 736837 CCNF cyclin F This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. 634645,1580863 8706131,16344560,15489334,12477932,12122006,10716937,7896286,7813445,7626882 634645 899 NM_001761,AC106820,CH471112,AB208829,BC012349,DA960397,DB523776,U17105,Z36714 NP_001752,EAW85510,BAD92066,AAH12349,AAB60342,CAA85308,P41002,Q59HD0,ABM81701 Hs.1973 GDB:342101 FBX1|FBXO1 protein-coding 735830 CCNG1 cyclin G1 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. 634709,1580863 8626390,17868090,17616664,16322753,15489334,15077171,12684677,12634633,12556559,12477932,12214116,11956189,10196184,10194136,9013862,8954786,8887688,8806701,16189514 634709 900 NM_004060,NM_199246,AC112205,AY791292,CH471062,D86077,BC000196,BC007093,BM479568,BT007134,BX538035,BX644635,CR619041,D78341,L49504,U47413,U53328,X77794 ABM84691,NP_004051,NP_954854,AAV40836,EAW61528,EAW61529,EAW61530,BAA13007,AAH00196,AAH07093,AAP35798,CAD97979,BAA11353,AAC41977,AAC50688,AAB03903,CAA54821,P51959,Q7Z396,ABW03627 Hs.79101 GDB:1230209 CCNG protein-coding 1312769 CCNG2 cyclin G2 The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The 8 species of cyclins reported in mammals, cyclins A through H, share a conserved amino acid sequence of about 90 residues called the cyclin box. The amino acid sequence of cyclin G is well conserved among mammals. The nucleotide sequence of cyclin G1 and cyclin G2 are 53% identical. Unlike cyclin G1, cyclin G2 contains a C-terminal PEST protein destabilization motif, suggesting that cyclin G2 expression is tightly regulated through the cell cycle. 1580863 8626390,18025271,17123511,16608856,16364039,12477932,12452053,11956189,8806701,16189514 901 NM_004354,AC104771,AF549495,CH471057,AK292029,BC032518,BT019503,CA429362,CR542181,CR542200,CR593444,DC344594,L49506,U47414 NP_004345,AAN40704,EAX05812,EAX05813,EAX05814,BAF84718,AAH32518,AAV38310,CAG46978,CAG46997,AAC41978,AAC50689,Q16589,Q6FGA7,Q6FGC6,Q8N5D4,ABM81762,ABM84917 Hs.13291 GDB:6837717 protein-coding 69470 CCNH cyclin H The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. 1580863 9121429,9118957,9118947,9056480,9054383,8934526,8849451,8836101,8628270,8617234,8521818,8302582,8078587,8069918,8001136,7533895,11062469,10477754,17353931,9405375,10583946,8692841,8946909,8692842,1939271,2449431,7629134,7799941,9512541,9582279,9790902,10214908,11313499,12393749,12646563,16782892,7936635,17728339,17707548,17684142,17628022,17575242,17081983,16935935,16492920,16189514,15695176,15489334,15328539,15220921,14702039,14569024,12527756,12477932,12379213,12140753,12049628,11239393,11113176,11062157,11056214,10993082,10973491,10866664,10734072,10639311,10438593,10082552,10066804,10024882,9840937,9765201,9651670,9570510,9465303,9464540,9334327,9311822,9243502,9184228,9130708 902 AC018754,AF477979,CH471084,AB209342,AK094534,AK291720,BC005280,BC016705,BC016823,BC022351,BF510957,BG718714,BX537673,CR407658,U11791,U12685,NM_001239 AAL74271,EAW95934,EAW95935,BAD92579,BAF84409,AAH05280,AAH16705,AAH16823,AAH22351,CAG28586,AAA21361,AAA57006,P51946,Q53X72,Q59FW7,ABM83476,ABM86687,NP_001230 Hs.292524 GDB:386531 CAK|p34|p37 protein-coding 1319424 CCNI cyclin I The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. The function of this cyclin has not yet been determined. 1580863 9705831,17507299,15489334,12477932,9373149,8125298,7493655 10983 NM_006835,AC104771,AC111196,AY207372,CH471057,AB209766,AF135162,AK222931,BC000420,BC004975,BT020019,CR541783,D50310 NP_006826,AAO13492,EAX05808,EAX05809,EAX05810,BAD93003,AAF43786,BAD96651,AAH00420,AAH04975,AAV38822,CAG46582,BAA08849,Q14094,Q53GK0,Q59EP5,Q6FHH0,ABM82786,ABM85975 Hs.518827 GDB:9958683 CYC1|CYI protein-coding 2290194 CCNI2 cyclin I family, member 2 12477932 645121 NM_001039780,AC004775,AK131553,BC132837,BC136836 NP_001034869,BAD18687,AAI32838,AAI36837,Q6ZMN8 Hs.522057 FLJ16793 protein-coding 1314992 CCNJ cyclin J 737633,1580863 14702039,12477932 737633 54619 NM_019084,AL356155,CH471066,AK001757,AK025932,AK092360,BC043175,CR607594 NP_061957,CAI16401,EAW49984,BAA91887,AAH43175,Q5T5M9 Hs.596479 bA690P14.1 protein-coding 1606241 CCNJL cyclin J-like 14702039,12477932 79616 NM_024565,AC112191,CH471062,AK024228,AK131381,BC013353,BC035871 NP_078841,EAW61562,BAB14856,BAD18532,AAH13353,AAH35871,Q8IV13 Hs.14070 FLJ14166 protein-coding 1353870 CCNJP cyclin J pseudogene 414303 1317544 CCNK cyclin K The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. 1580863 16713569,9632813,17169370,17081983,15489334,15302935,12477932,11988847,11884399,10574912,16189514 8812 NM_001099402,NM_003858,AF270832,AF542236,AL110504,CH471061,BC015935,BG503760,BM505592,BQ432222,BT006950,BX247958,AB209373 NP_001092872,NP_003849,AAF82290,AAN06829,EAW81668,EAW81669,EAW81670,EAW81671,EAW81672,AAH15935,AAP35596,CAD62298,O75909,Q59FT6,Q86U16,BAD92610,ABM84464,ABW03286 Hs.705475 GDB:9957298 CPR4|MGC9113 protein-coding 733406 CCNL1 cyclin L1 1580863 18216018,17494991,16598186,15700036,15489334,15302935,14702039,12975309,12477932,12414649,11980906,11683997,11042152,14623875 57018 NM_020307,AC104411,CH471052,AF180920,AF208843,AF367476,AF367477,AK022974,AK098021,AK122738,AY034790,AY358663,BC007081,BC038394,BC067812,BX641146,BX647554 NP_064703,EAW78712,EAW78713,EAW78714,AAD53184,AAF64257,AAM21204,AAM21205,AAK61551,AAQ89026,AAH07081,AAH38394,AAH67812,Q9UK58 Hs.4859 BM-001|PRO1073|ania-6a protein-coding 1319329 CCNL2 cyclin L2 1580863 18216018,17494991,17081983,16710414,15489334,14702039,14684736,14623875,12477932,9373149,8838426,8125298 81669 NM_030937,NM_001039577,AC026283,AL139287,AL391244,AX880620,CH471183,CR628411,AF087903,AF251294,AK000685,AK026796,AK027770,AK056120,AK057133,AK074112,AK225758,AK292268,AL834432,AL834441,AY037150,AY116620,BC016333,BC071622,CR599231 NP_112199,NP_001034666,CAI22659,CAE91020,EAW56211,EAW56212,EAW56213,EAW56214,EAW56215,EAW56216,EAW56217,CAM12829,AAP97201,AAG44594,BAB84938,BAF84957,CAD39092,CAD39101,AAK67631,AAM76789,AAH16333,AAH71622,Q96S94,Q9H2N7 Hs.515704 ANIA-6B|DKFZp761A1210|DKFZp762O195|HCLA-ISO|HLA-ISO|PCEE|SB138 protein-coding 1352503 CCNM cyclin M 9613 GDB:9957798 1346890 CCNO cyclin O 1580863 10583946,12161446,11937636,18079698,17360488,17272283,16697536,15489334,15372022,14702039,12477932,8419333,2001396,11081631,10393198,12369930,12171929,12667798 10309 NM_021147,AC026704,AC091977,CH471123,M87499,AK026075,BC004877,BC017345,BC056254,BX096363,X52486 NP_066970,EAW54912,EAW54913,AAB05817,BAB15351,AAH04877,CAA36728,P22674,AAI60041 Hs.3041 GDB:9956252 CCNU|FLJ22422|UDG2|UNG2 protein-coding 1322457 CCNT1 cyclin T1 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin tightly associates with CDK9 kinase, and was found to be a major subunit of the transcription elongation factor p-TEFb. The kinase complex containing this cyclin and the elongation factor can interact with, and act as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and was shown to be both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner were also found to be involved in the phosphorylation and regulation of the carboxy-terminal domain (CTD) of the largest RNA polymerase II subunit. 1580863 11746495,11739744,11739686,11730934,11713533,11713532,11704662,11689688,11689614,11549886,11547919,11545735,11504720,11373315,11282025,11145967,11118314,11112772,11080476,10985245,10983978,10964778,10958691,10944537,10931842,10913173,10903436,10866664,10757782,10671520,10661406,10617616,10574912,10545121,10536359,10467404,10465067,10454543,10438593,10393900,10393184,10384302,10377393,10364329,10364292,10329126,10329125,10082552,16980611,16916647,16838299,16764723,16615932,16439541,16362050,16308568,15994294,15940264,15913611,15713661,15563843,15528190,15107825,15049426,14972556,14963154,14627702,14580347,14569024,12944920,12942536,12917420,12894230,12887902,12832472,12753906,12727882,12651893,12588988,12486002,12458222,12368330,12368300,12177005,12115727,12065898,12052871,11884399,11809800,11780068,16109376,12944466,9499409,7853496,12676794,18205180,18039861,17855633,17724342,17690245,17686863,17540406,17502349,17452463,17352406,17317667,17014716,10077579,10066804,10049833,9990016,9872325,9843510,9832504,9811724,9765201,9696809,9651670,9649438,9570510,9557739,9491887,9356449,9334326,9334325,8849451,8676484,17168834,15994812,16146763,16035254,15719065,15638724,15473004,15183343,15139295,14984439,16781761,15498776,15905409,15142377,12883554,15546612 904 NM_001240,AC079951,AF255307,CH471111,AF045161,AF048730,AK290990,EF688064 NP_001231,AAF72184,EAW57998,AAC39638,AAC39664,BAF83679,ABV58572,O60563,Q9NR57,AAI56507 Hs.279906 GDB:9836475 CCNT|CYCT1 protein-coding 1319417 CCNT2 cyclin T2 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. Two alternatively spliced transcript variants, which encode distinct isoforms, have been described. 1580863 10049833,9544,16109376,9499409,12676794,17452463,16841087,16331689,15815621,15563843,15302935,12832472,12477932,12037672,11747605,11713533,11282025,10465067,10364329,10329126 905 NM_058241,NM_001241,AC016725,AJ297062,AY865621,CH471058,AF048731,AF048732,AK075041,AK292913,BC114366,BX648174 NP_490595,NP_001232,AAY14998,AAW56073,EAX11644,EAX11645,EAX11646,EAX11647,AAC39665,AAC39666,BAF85602,AAI14367,O60583,Q29R66 Hs.591241 GDB:9836476 FLJ90560|MGC134840 protein-coding 1347341 CCNY cyclin Y 11256614,18438405,17081983,15489334,15324660,15302935,15164054,14702039,12477932 219771 NM_145012,AL117336,AL121749,AL592445,AL603824,CH471072,AF413522,AF429969,AF465728,AF465729,AK024813,AK057280,AL834355,NM_181698,AY504868,BC015778,BC050310,BC069224,BC094815,BC104773,BC104801 NP_859049,NP_659449,CAH72501,CAH73707,CAH73709,CAH70072,CAH70073,CAH71567,CAH71568,EAW85912,EAW85913,EAW85914,AAL07802,AAP97301,AAL78998,AAL78999,BAB71409,CAD39020,AAS79427,AAH69224,AAH94815,AAI04774,AAI04802,Q0JUS6,Q8ND76 Hs.14745 C10orf9|CBCP1|CFP1 chromosome 10 open reading frame 9 protein-coding 1606146 CCNYL1 cyclin Y-like 1 15302935,14702039,12477932 151195 NM_152523,AC096772,CH471063,AK095479,AK097751,BC067253 NP_689736,AAY24056,EAW70420,EAW70421,EAW70422,EAW70423,BAC05160,AAH67253,Q8N7R7 Hs.471234 FLJ40432 protein-coding 1346524 CCNYL2 cyclin Y-like 2 12477932 414194 XM_374787,XM_936368,XM_001714283,AL391099,BC039000 XP_374787,XP_941461,XP_001714335,CAI12446,Q5T2Q4 Hs.568048 C10orf21|bA178A10.2 chromosome 10 open reading frame 21 protein-coding 1606616 CCNYL3 cyclin Y-like 3 642326 XM_925865,XM_001715732 XP_001715784,XP_930958 protein-coding 1346304 CCO central core disease of muscle GDB:119755 1322623 CCPG1 cell cycle progression 1 17092945,14702039,12477932,10574462,9383053 9236 NM_020739,NM_004748,AC013355,AC018926,CH471082,AB033080,AF011794,AF212228,AK022459,AK292795,AL705964,BC015203,BC027621,BC029398,BC034914,BC039871,BC042826 NP_065790,NP_004739,EAW77481,EAW77482,EAW77483,EAW77484,EAW77485,EAW77486,BAA86568,AAB69314,AAK14914,BAB14042,BAF85484,AAH15203,AAH29398,AAH34914,AAH39871,Q9ULG6 Hs.612814 CPR8|KIAA1254 protein-coding 1349625 CCR1 chemokine (C-C motif) receptor 1 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. 1580863 10910894,10734056,7683036,18178867,17914560,17464174,17389578,17336272,17298994,17192849,17135764,16969502,16837468,16323127,16226254,16182378,15950672,15927850,15548526,15489334,15337751,15265234,15103513,15039444,14674010,14637022,14595653,14530297,12794150,12763925,15001559,15474493,7505609,12651617,12477932,12270118,12085329,12070001,11920567,11832479,11470772,11449371,11116158,11110672,11085751,10770925,10702689,10660125,10583963,10202040,10094132,9886417,9558365,9346309,9289016,9143512,9115216,8631787,8626727,8530354,8011297,7679328,7594543,7545673,15053339,11804551 1230 AC104439,NM_001295,CH471055,AI089760,BC051306,BC064991,BT019908,BT019909,BX337412,CK903574,CR609171,D10925,L09230,L10918 NP_001286,EAW64756,EAW64757,AAH51306,AAH64991,AAV38711,AAV38712,BAA01723,AAA58408,AAA36543,P32246,Q5U003 Hs.301921 GDB:138446 CD191|CKR-1|CMKBR1|HM145|MIP1aR|SCYAR1 protein-coding 1606584 CCR10 chemokine (C-C motif) receptor 10 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM] 14667819,7851889,17071491,16785557,16675558,16460738,15700309,15489334,12477932,11821900,11298490,10975800,10781587,10725697,10725696,10706668,9364936,8889548 2826 NM_016602,AC100793,CH471152,U13667,AF208237,AF215981,AY429103,BC098132,BC098157,BC098304,BC099840,BM930170,CA423133,CR613205 NP_057686,EAW60866,AAA64593,AAF72871,AAF63709,AAR07898,AAH98132,AAH98157,AAH98304,AAH99840,P46092 Hs.278446 GPR2 protein-coding 1603716 CCR2 chemokine (C-C motif) receptor 2 This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. 16286054,16261210,16207551,16206074,16196460,16140745,16123688,16095529,16055130,16033640,15980693,15976001,15929697,15863470,15793370,15769362,15754978,15750046,15721423,15639953,15611878,15602133,15585333,15579296,15575507,15489334,15488313,15472820,15466648,15465089,15458467,15362666,15319853,15257681,15995708,9670957,10201901,10623817,9548499,10751368,8995400,8146186,18332000,18306985,18197127,18186797,18172114,18060801,18055544,17989610,17934338,17917677,17845302,17786209,17715128,17704101,17703277,17688234,17672867,17664883,17653321,17615573,17604544,17596666,17560067,11500196,11485615,11477473,11470772,11468722,11385319,11377705,11350939,11264152,11175286,11120855,11046064,11023492,10985245,10888629,10741397,10529171,10479649,11596075,11590385,9886417,9789057,9710230,9662369,9501202,9287323,9252328,9225989,9195948,9143512,9115216,9058802,8884276,8530354,17504503,17499741,17482150,17465499,17464174,17428349,17426779,17417600,17413295,17395051,17364026,17361671,17355643,17298432,17295203,17240189,17216598,17135764,17094383,17091019,17060059,16950632,16908772,16903979,16865553,16858645,16781696,16733654,16641997,16631114,16598837,16529059,16524739,16485782,16480760,16478397,16461193,16426243,16415174,16356504,16323127,16320328,16314800,16305685,16286055,8048929,16831471,15992849,15053339,11804551,11115360,10877489,10486323,9736741,9653051,11025449,15230854,15236615,15192276,15140377,15135805,15086398,15086346,15076247,14981141,14742283,14647058,14644039,14624371,14533983,14533004,13678532,12913933,12889997,12884524,12882757,12853745,12853162,12837756,12719858,12680626,12654703,12651900,12584049,12571520,12557141,12556692,12477932,12469616,12447757,12445801,12436194,12426226,12403355,12399623,12374865,12239249,12215924,12201365,12192431,12149192,12082592,12079277,12078856,12070001,12032878,12010355,12001056,11988632,11964548,11958683,11898620,11873083,11860823,11860793,11856781,11782014,11779135,11756347,11752157,11729511,11709782,11696224,11694103 1231 BC126452,D29984,U03882,U03905,X95583,BC095540,NM_000647,NM_000648,AC098613,AC138069,AF545480,AX705062,CH471055,U80924,U95626,BC074751 AAI26453,BAA06253,AAA19119,AAA19120,CAA64835,O95950,P41597,Q4VBL2,AAH95540,NP_000638,NP_000639,AAN16400,CAD88094,EAW64760,EAW64761,EAW64762,AAC51636,AAC51637,AAB57791,AAB57792,AAH74751 Hs.644637 GDB:337364 CC-CKR-2|CCR2A|CCR2B|CD192|CKR2|CKR2A|CKR2B|CMKBR2|MCP-1-R protein-coding 1345616 CCR3 chemokine (C-C motif) receptor 3 The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants encoding the same protein have been described. 1580863 10201960,10713092,9302298,18379861,18311140,18244953,17983872,17845580,17672867,17146638,17135764,16920975,16174786,16081847,15807893,15607028,15580493,15507393,15489334,15476879,15219825,15086398,14733956,14702039,14647058,14581140,12902471,12884299,12794150,12654630,12477932,12397598,12393570,12218106,12149192,12079287,12023397,11994538,11991282,11920572,11832479,11449371,11396683,11307756,11196669,11149986,11120849,11110785,11085751,11001881,10975800,10900353,10666479,10642580,10527858,10514402,10488147,10415069,10094132,9789057,9765440,9712872,9573273,9419219,9346309,9182688,9143512,9024664,9005985,8884276,8676064,8674119,8642344,8631926,8631813,8609214,7622448,9289016,7594543,16631222,17041228,16904155,9736741,9636210,9252350,15053339,9653051,9359702,16712896,16470129,15992849,15194768,11115360,10877489,10590105,15857508 1232 NM_001837,NM_178329,AB023887,AC104439,AF224497,AF237381,AF247359,AF247360,AF247361,AY221092,CH471055,EF064760,U49727,U51241,AF026535,AF224495,AF262299,AF262301,AF262302,AF262303,AF262304,AK123050,BC110297,BC130318,BC130320,U28694 NP_001828,NP_847899,BAA86964,AAK49028,AAL85154,AAO65970,EAW64758,EAW64759,ABK41943,AAB09726,AAB16831,AAB82589,AAK49027,AAL85628,AAL85630,AAL85631,AAL85632,AAI10298,AAI30319,AAI30321,AAC50469,P51677,Q8TDP4,Q8TDP5,Q8TDP6,Q8TDP7,Q8TDP8,Q96T96,Q96T97 Hs.506190 GDB:579624 CC-CKR-3|CD193|CKR3|CMKBR3|MGC102841 protein-coding 1347259 CCR4 chemokine (C-C motif) receptor 4 The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. 1580863 7642634,18180299,17546636,17117949,17071491,15955100,15621800,15569983,15489334,15328188,15202833,15187160,14657875,12778466,12771185,12485447,12477932,12456591,12406880,12270118,12070001,11861261,11196669,10754297,10466728,10036181,9933589,9743322,9430724,9169480,8884276,8573157,12429730,15857508 1233 NM_005508,AB023888,AB023889,AB023890,AB023891,AB023892,AC137560,AY322539,CH471055,EF064759,AK292674,BC069139,BC071751,BC074935,CD639869,CD640816 NP_005499,BAA86965,BAA86966,BAA86967,BAA86968,BAA86969,AAP84352,EAW64440,EAW64441,ABK41942,BAF85363,AAH69139,AAH71751,AAH74935,P51679 Hs.184926 GDB:677463 CC-CKR-4|CD194|CKR4|CMKBR4|ChemR13|HGCN:14099|K5-5|MGC88293 protein-coding 1351344 CCR5 chemokine (C-C motif) receptor 5 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. Two transcript variants encoding the same protein have been found for this gene. 632396,1581175,1581176,1581181,1581182,1580863,1358460,1626290,1626283,1626284 12599073,12587636,12586555,12584049,12579509,12571520,12571248,12557141,12556692,12555203,12552446,12612298,12610055,12532229,12531905,12522035,12514416,12509908,12496074,12477932,12462338,12461425,12451219,12447757,12445801,12437612,12429730,12427015,12426633,12426393,12426392,12413885,12412204,12403770,12403355,12378793,12377943,12356205,12355376,12271718,12239139,12215252,12201365,12200385,12176010,12169668,12166499,12163044,12140749,12136242,12131184,12093918,12085329,12082592,12070001,12065593,12056598,12055576,12036855,12032878,12023175,12010355,12001056,11994538,11994442,11988632,11175286,11141322,11125899,11125885,11116158,11085751,11072599,11023492,10985308,10917742,10816381,10751368,10702689,10640778,10602409,10477718,10477567,10465086,10453044,10384144,10364178,10089882,10085131,10037796,9765440,9632396,9468473,9446638,9399903,9388201,9359654,9343222,9289016,9207783,9143512,8756719,8699119,8674119,8649512,8649511,3960725,3512269,3346208,2569467,2564392,2183196,9256481,15479838,15258189,15047829,14694113,14505910,12871111,16375941,16631222,16963439,16841089,16621960,17121788,11414813,11413305,9653130,15113926,11278567,10970739,10888615,10826481,10801487,10602038,12183462,11356961,10938094,10823934,10574939,9890944,9882373,8639485,12421915,10469138,8663314,15001559,10393923,10679098,10201901,10741397,12091904,10415069,11278962,18436884,18405329,18391751,18386165,18361062,18311470,18255039,18230715,18205260,18203956,18197127,18195571,18194353,18191728,18189189,18182569,18179389,18179388,18097239,18096812,18060801,18036244,17989610,17984846,17971457,17963165,17952079,17929678,17920529,17909797,17901336,17884183,17855654,17855336,17845302,17786209,17713445,17691823,17686153,17675516,17672867,17671738,17653092,17645788,17644519,17640964,17633563,17627030,17625759,17620369,17607321,17604289,17596666,11966770,11966764,11964548,11958683,11937056,11920324,11920312,11901272,11878912,11877445,11876757,11873082,11860823,11860793,11859127,11856781,11809184,11803051,11781692,11756347,11752157,11751947,11734558,11733580,11729511,11727771,11709782,11703822,11700073,11698699,11696224,11694103,11693435,11679916,11596075,11595595,11591716,11559423,11543895,11511825,11504955,11500196,11485615,11484163,11477473,11470772,11449371,11448957,11447384,11403814,11398114,11393656,11385319,11377705,11369664,11354628,11350939,11336643,11335892,11334429,11274729,11264152,11196706,11196681,11188946,11181160,11177400,17585540,17565662,17564248,17560067,17530006,17522201,17511851,17507486,17465678,17462514,17460174,17445875,17442950,17428349,17426779,17417600,17413295,17383752,17361671,17355643,17351762,17331851,17331026,17305874,17301575,17273779,17261788,17257590,17240189,17237417,17214851,17169533,17166523,17145599,17135764,17112859,17101151,17094383,17091019,17079285,17067435,17063508,17060059,17053144,16999868,16960780,16937446,16916647,16909455,16888899,16887960,16879946,16872485,16865553,16855620,16847113,16807236,16775617,16774544,16764352,16721558,16721228,16703416,16672419,16641997,16633049,16614115,16598837,16547971,16545485,17148969,16541097,16529059,16524739,16513874,16512757,16501811,16485782,16481131,16480760,16478397,16476734,16461193,16442182,16418398,16405836,16395252,16358723,16344560,16335661,16323127,16314800,16312181,16305685,16286055,16284527,16270124,16261210,16249700,16249462,16248677,16233918,16206074,16196460,16182378,16179731,16174786,16161154,16157597,16144840,16140745,16118671,16100775,16055130,16034118,16015368,15985194,15981170,15980693,15980670,15976369,15964389,15962231,15958832,15575507,15566517,15557916,15548261,15500552,15489334,15488313,15465089,15458467,15385740,15362666,15354329,15331395,15319853,15308751,15307921,15302103,15301862,15288441,15280786,15251452,15242539,15236615,15230854,15215889,15192276,15192272,15181567,15180829,15169555,15140377,15135805,15125257,15124759,15117454,15086398,15086346,15080861,15076247,15039132,15016843,15009175,15004773,15000812,14982745,14981141,14963124,14742283,14716309,14715575,14697747,14674010,14673528,14672331,14647058,14645006,14644028,14637022,14636691,15950936,15932625,15916792,15902300,15885315,15882964,15863470,15856455,15851912,15821335,15807900,15802968,15793370,15793360,15787642,15769362,15767436,15767435,15757671,15754978,15737629,15725749,15708547,15651660,15650194,15639953,15610230,15602133,15596839,15592455,15591779,15588345,15585333,15577536,14597737,14583186,14581567,14576050,14533983,14533004,14517611,14501804,12964123,12960247,12960231,12925765,12915585,12913933,12887913,12884524,12882661,12874407,12865070,12858455,12853745,12846056,12837756,14624371,14616291,12829440,12819030,12815099,12798016,12788308,12767984,12751031,12745546,12726730,12688247,12680626,12667818,12651900,12634405,12619446,12612937,9653051,9525683,9445013,9420225,17210123,11342415,10438703,11238869,10482561,10438870,10339592,10497246,11023526,12857973,10758170,10725362,17147503,15321703,11264346,11134270,11069996,11698270,11468147,12368322,11711617,11709091,11689632,11679153,11529558,11390601,11356952,12551992,17053352,16817962,16702010,16672549,12887918,12477875,9261346,9353123,15992849,15279544,14990703,12963807,12873765,12692222,12689409,11427892,11313374,11162839,10882583,10820198,10775626,10644351,10393974,9576751,9420238,9359702,9031325,8976200,8898753,11861874,15972662,10807185,10872839,9362541,17101166,16966601,16476981,16378977,15983047,15964018,15890935,15857992,12610158,12490404,12408990,12202222,12163614,11861850,11153675,10562492,10544150,10482572,10357469,10200301,9971818,9870313,9261451,9184207,16300985,16039896,12873764,9334377,9188565,11602715,11517394,11489906,11485305,11464139,11429110,11397808,11356967,11312658,11290759,11265761,11264367,11263244,11118070,11115360,11086073,11024154,11005830,10961858,10888639,10877489,10738970,10623731,10606089,10590121,10590105,10585143,10559284,10555208,10527688,10505675,10487781,10449282,10446313,10413516,10370370,10229873,10029247,9882290,9636210,9576954,9020356,8995603,8906796,8906795,8805353,15854903,15629079,15586413 632396,1581175,1581176,1581181,1581182,1358460,1626290,1626283,1626284 1234 AY463215,AY744141,AY874119,AY874120,AY874121,CH471055,DQ217934,EF408698,EF408699,U83326,AF011529,AF011530,AF011531,AF011532,AF011533,AF011534,AF011535,AF011536,AF011537,BC038398,DA818906,U54994,U57840,AF011528,NM_000579,NM_001100168,AB182984,AB182988,AB182990,AC098613,AF009962,AF031237,AF052539,AF056020,AF161909,AF161911,AF161912,AF161913,AF161914,AF161915,AF161916,AF161917,AF161918,AF161919,AF161920,AF161921,AX256200,AX705068,AY221093,AY463213,AY463214,AF161910,X91492,AF011500,AF011501,AF011502,AF011503,AF011504,AF011505,AF011506,AF011507,AF011508,AF011509,AF011510,AF011511,AF011512,AF011513,AF011514,AF011515,AF011516,AF011517,AF011518,AF011519,AF011520,AF011521,AF011522,AF011523,AF011524,AF011525,AF011526,AF011527 AAS19314,AAW62445,AAW82037,AAW82038,AAW82039,EAW64763,EAW64764,ABB01004,ABQ95606,ABQ95607,AAC51797,AAS19313,AAB65728,AAB65729,AAB65730,AAB65731,AAB65732,AAB65733,AAB65734,AAB65735,AAB65736,AAB65737,AAH38398,AAC50598,AAB17071,A0A502,O14694,P51681,Q38L21,Q3L3Q6,Q5EKM8,Q5EKM9,Q5EKN0,Q5KSY4,Q5KSY5,Q5QIN9,Q5QIP0,Q5QIP1,Q9P1T4,Q9P1T8,Q9UBJ7,Q9UBT9,Q9UN23,Q9UN24,Q9UN25,Q9UN26,Q9UN27,Q9UN28,NP_000570,NP_001093638,BAD83805,BAD83807,BAD83808,AAC23944,AAB94735,AAD18131,AAF65579,AAD47666,AAD47667,AAD47668,AAD47669,AAD47670,AAD47671,AAD47672,AAD47673,AAD47674,AAD47675,AAD47676,AAD47677,AAD47678,CAC94550,CAD88097,AAO65971,AAS19312,CAA62796,AAB65700,AAB65701,AAB65702,AAB65703,AAB65704,AAB65705,AAB65706,AAB65707,AAB65708,AAB65709,AAB65710,AAB65711,AAB65712,AAB65713,AAB65714,AAB65715,AAB65716,AAB65717,AAB65718,AAB65719,AAB65720,AAB65721,AAB65722,AAB65723,AAB65724,AAB65725,AAB65726,AAB65727 Hs.536735 GDB:1230510 CC-CKR-5|CCCKR5|CD195|CKR-5|CKR5|CMKBR5 protein-coding 1318406 CCR6 chemokine (C-C motif) receptor 6 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. 1580863 9186513,10521347,11001880,9223454,18218038,18097022,17615381,17562763,17171755,17133360,17075975,16641550,16622267,16344560,16215992,16095490,15701269,15591779,15489334,15483227,14574404,12642342,12514792,12477932,12193700,12149255,12081481,12070001,12067311,11994436,11751947,11714836,11164896,9373149,9294138,9294137,9169459,9070937,8886020,8125298,15972662 1235 NM_004367,NM_031409,AL121935,CH471051,U45984,U68032,Z79784,AK223494,AK293015,AY242126,BC037960,BX647686,CD692892,CD707633,DA645096,DN996219,U60000,U68030,U68031 NP_004358,NP_113597,CAB99328,EAW47506,EAW47507,AAB62714,AAC51125,CAB02144,BAD97214,BAF85704,AAO92293,AAH37960,AAB06949,AAC51124,AAD14874,P51684,Q53EZ5,ABM83388,ABM86600 Hs.46468 GDB:5370639 BN-1|CD196|CKR-L3|CKR6|CKRL3|CMKBR6|DCR2|DRY-6|GPR-CY4|GPR29|GPRCY4|STRL22 protein-coding 1347245 CCR7 chemokine (C-C motif) receptor 7 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. 1580863 9153236,10741397,18235009,18166500,18065728,17890452,17687340,17587445,17440035,17178876,17032700,17006331,16887149,16857986,16802356,16786131,16690519,16500130,16278415,16278374,16272303,16225771,16223574,16115904,15950936,15867478,15778365,15753377,15743472,15674360,15569314,15489334,15304089,15284247,15265234,15247147,15122702,15073111,15059845,15040017,15034011,14990723,12851649,12799021,12673677,12642342,12486098,12477932,12149218,12070001,12023337,11970971,11929789,11861876,11830455,11507220,11359797,11145663,10861057,10706668,10607681,9743376,9725259,9585422,9507024,8889548,8383238,7851893,7488016,15972662,16278001 1236 NM_001838,AC004585,CH471152,EF064758,L31584,X84702,AK127810,AY587876,BC035343,BU740631,CR592465,L08176,L31581 NP_001829,EAW60669,ABK41941,AAA74230,AAT52232,AAH35343,AAA58615,AAA74231,P32248,ABM83040,ABM86234 Hs.370036 GDB:342065 BLR2|CD197|CDw197|CMKBR7|EBI1 protein-coding 1312592 CCR8 chemokine (C-C motif) receptor 8 This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. 1580863 9417093,8816377,10910894,9670926,17693327,17641040,17082609,17023422,15814739,15489334,14576057,12967681,12832759,12645948,12551893,12547701,12525579,12477932,12163566,11007922,10888633,10540332,10469138,9521068,9480837,9469461,9211859,9207005,8977299,8886020,16631222,15992849,15053339,11804551 1237 NM_005201,AC104850,AY016370,CH471055,U45983,U62556,Y08456,Z79782,AF005210,BC069067,BC074743,BC107152,BC107159,D49919 NP_005192,AAK08628,EAW64577,AAB61962,AAB05542,CAA69712,CAB02142,AAB62547,AAH69067,AAH74743,AAI07153,AAI07160,BAA23387,P51685,Q3KNR3,Q9BYX5 Hs.113222 GDB:6053733 CDw198|CKR-L1|CKRL1|CMKBR8|CMKBRL2|CY6|GPR-CY6|MGC129966|MGC129973|TER1 protein-coding 1352272 CCR9 chemokine (C-C motif) receptor 9 The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. 1580863 10544196,10640743,10229797,17570212,17205512,16210593,15717282,15623660,15489334,14559839,12816994,12477932,11046037,10974041,10702689,10602049,10498628 10803 AF145207,AF145439,AF145440,AJ132337,BC069678,BC095516,CH471055,U45982,AY242127,NM_031200,NM_006641,AC099782 AAD38539,AAF66699,AAF66700,CAB43477,AAH69678,AAH95516,P51686,Q9UN87,AAO92294,EAW64751,EAW64752,AAA93319,NP_112477,NP_006632 Hs.225946 GDB:9958889 CDw199|GPR-9-6|GPR28 protein-coding 1313116 CCRK cell cycle related kinase The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase activates CDK2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 16552187,16428339,15489334,15336571,15164053,14597612,12477932 23552 NM_178432,NM_012119,NM_001039803,AF547664,AL353572,CH471089,CQ783936,AF035013,AK075325,AK291713,AY904367,BC002655,BF966262,BI757318,BX647489,CR607702,AF113130 NP_848519,NP_036251,NP_001034892,AAN28684,CAH72843,EAW62743,EAW62744,EAW62745,EAW62746,EAW62747,EAW62748,EAW62749,CAF86933,AAC98920,BAF84402,AAW82349,AAH02655,O95137,Q8IZL9,AAF43778 Hs.522274 CDCH|p42 protein-coding 1602221 CCRL1 chemokine (C-C motif) receptor-like 1 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. Alternatively spliced transcript variants encoding the same protein have been described. 10734104,10706668,10767544,16791897,15489334,12477932,11981810,11134065,9469451,9373149,8125298 51554 NM_016557,NM_178445,AC020632,AF193507,AF233281,AY221094,AF110640,AK225927,BC069438,BC095501,BQ015927 NP_057641,NP_848540,AAF61299,AAF44751,AAO65972,AAF59827,AAH69438,AAH95501,Q4VBN4,Q9NPB9 Hs.310512 GDB:10450538 CC-CKR-11|CCBP2|CCR10|CCR11|CCX-CKR|CKR-11|PPR1|VSHK1 protein-coding 1343576 CCRL1P chemokine (C-C motif) receptor-like 1 pseudogene 285737 NG_005663,AL121834 dJ509I19.4 pseudo 1323460 CCRL2 chemokine (C-C motif) receptor-like 2 This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. 9473515,16641997,15489334,15188357,12477932,9143512 9034 BC096076,NM_003965,AC098613,CH471055,U95626,AF015524,AF015525,AJ344142,BC071682,BC096075 AAH96076,O00421,ABM83028,ABM86222,AAH96075,NP_003956,EAW64765,EAW64766,AAB57794,AAC34601,AAC34602,CAC82985,AAH71682 Hs.535713 GDB:9954791 CKRX|CRAM-A|CRAM-B|HCR|MGC116710 protein-coding 1349348 CCRN4L CCR4 carbon catabolite repression 4-like (S. cerevisiae) The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. 1580863 10521507,16821125,12477932,11394964 25819 NM_012118,AC093602,AF199492,CH471056,AF183961,AF199493,BC021963,BC023512,BC077723,BC113494,BC113500,AF199494 NP_036250,AAG01387,EAX05129,EAX05130,EAX05131,AAD56548,AAG01388,AAH21963,AAH23512,AAH77723,AAI13495,AAI13501,Q14D51,Q8WTX0,Q9UK39,AAG01389 Hs.639842,Hs.656047 GDB:11500648 CCR4L|MGC142054|MGC142060|MGC4120817|MGC78549|NOC protein-coding 733606 CCS copper chaperone for superoxide dismutase Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. 1580863,1300048 9726962,9295278,17683925,16531609,16132821,15736924,15489334,15324660,15265083,12832419,12477932,11991808,11115513,11018045,10790544,10773661,10677207,10221913,9886096 9973 AP001157,CH471076,AF002210,AY113179,BC105016,BC112055,CR541928,CR592698,CR618281,NM_005125 NP_005116,EAW74549,EAW74550,EAW74551,AAC51764,AAM50090,AAI05017,AAI12056,CAG46726,O14618,Q8NEV0 Hs.502917 GDB:9866029 MGC138260 protein-coding 1350851 CCT cataract, congenital, total 907 GDB:119756 1352326 CCT2 chaperonin containing TCP1, subunit 2 (beta) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of the gene described in this record have been observed but have not been thoroughly characterized. 1580863 11532003,16236267,15635413,15489334,15324660,14532270,12665801,12477932,11580269,10748209,10404219,9819444,7953530 10576 U91327,AA401491,AF026166,AF026293,AK290767,BC113514,BC113516,BT019966,CB138063,CR457071,CR594818,CR599514,CR606401,CR615034,CR616195,CR618455,CR619880,CR621324,NM_006431,AC018921,CH471054 AAB67249,AAC98906,AAC96012,BAF83456,AAI13515,AAI13517,AAV38769,CAG33352,P78371,Q9H369,NP_006422,EAW97228,EAW97229,EAW97230 Hs.189772 GDB:9957678 99D8.1|CCT-beta|CCTB|MGC142074|MGC142076|PRO1633|TCP-1-beta protein-coding 1342982 CCT3 chaperonin containing TCP1, subunit 3 (gamma) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 8573069,8001976,16710414,15489334,14532270,12586295,12477932,10635329,8110840,7953530,16189514,12620389,14499622 7203 NM_001008800,NM_005998,NM_001008883,AL589685,CH471121,AB208882,AK126400,AL518070,AL833197,AY524046,BC006501,BC008019,BG476176,BG746513,CR592621,CR603082,CR611330,CR613535,CR618496,CR619140,CR619495,U17104,X74801 NP_001008800,NP_005989,NP_001008883,CAI14167,CAI14168,CAI14169,CAI14170,EAW52967,BAD92119,CAI46192,AAS94255,AAH06501,AAH08019,AAC50068,P49368,Q2TU64,Q59H77,Q5SZY0,ABM83940,ABM87258,CAA52808 Hs.491494 GDB:342116 CCT-gamma|CCTG|PIG48|TCP-1-gamma|TRIC5 protein-coding 1345648 CCT4 chaperonin containing TCP1, subunit 4 (delta) The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM] 1580863 8626763,9819444,17081065,16344560,15815621,15489334,14532270,12665801,12477932,11689615,11580270,10604479,9153422,8661059,7953530 10575 AC107081,NM_006430,CH471053,AF026291,AK129860,AK290538,AL555753,AU128145,BC014676,BC106933,BC106934,CD369623,CR600123,CR600967,CR608512,CR615372,CR619877,CR620064,CR622073,U38846 AAY24140,NP_006421,EAW99984,EAW99985,EAW99986,EAW99987,AAC96010,BAF83227,AAH14676,AAI06934,AAI06935,AAC50384,P50991,ABZ92292 Hs.421509 GDB:9957676 CCT-DELTA|Cctd|MGC126164|MGC126165|SRB protein-coding 1354396 CCT5 chaperonin containing TCP1, subunit 5 (epsilon) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 12477932,11580270,11580269,11532003,11358150,11162507,10747865,10393949,9250675,7953530,7788527,7615668,18421076,16821082,16399879,16236267,16189514,16169070,15889144,15489334,15231747,14702039,14532270,12530067,12502735 22948 CR599726,CR602835,CR604938,CR605385,CR606787,CR609903,CR611397,CR616179,CR617351,CR618337,CR619740,CR621852,CR624278,CR626727,D43950,NM_012073,AC012640,CH471102,AF275798,AJ012489,AK124354,AK289353,AK290393,BC002971,BC006543,BC009454,BC035499,BC040027,BU858349,CR590360,CR594923,CR596856 BAA07894,P48643,Q96GI1,Q9BU08,Q9HB74,ABM83669,ABM86942,NP_036205,EAX08072,AAG23814,BAF82042,BAF83082,AAH02971,AAH06543,AAH09454,AAH35499 Hs.1600 GDB:9784677 CCT-epsilon|CCTE|KIAA0098|TCP-1-epsilon protein-coding 1312394 CCT6A chaperonin containing TCP1, subunit 6A (zeta 1) This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. 1580863 8034610,16236267,16211299,15489334,14532270,12853948,12665801,12477932,11532003,10810232,7953530,1602151,1352881,14743216 908 NM_001762,NM_001009186,AC092101,AC092579,CH471140,AB063318,AB209728,AF385084,AM295155,AW411253,BC106941,BC106942,BI464886,BU540578,CR590985,CR594866,CR600067,CR605318,CR609340,CR612852,CR613031,CR626775,CR626783,L27706,M94083 NP_001753,NP_001009186,AAS07451,EAX07972,EAX07973,EAX07974,BAB61032,BAD92965,AAK61354,CAL26601,AAI06943,AAA61061,AAA58676,P40227,Q3KP29,Q59ET3 Hs.82916 GDB:134031 CCT-zeta|CCT-zeta-1|CCT6|Cctz|HTR3|MGC126214|MGC126215|MoDP-2|TCP-1-zeta|TCP20|TCPZ|TTCP20 protein-coding 1601895 CCT6AP1 chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1 14702039,12477932,9847074 643253 NR_003110,AC073107,AK092180,BC052238,BC073761,BC119782,BC122874 Hs.488399 DKFZp779B0634 pseudo 1345746 CCT6B chaperonin containing TCP1, subunit 6B (zeta 2) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 8812458,16415341,15489334,15342556,12477932,9373149,9013858,8125298 10693 NM_006584,AC022903,CH471147,AK225728,AK225729,BC026125,BC027591,BI825786,BI826129,BP368876,CR933688,D78333 NP_006575,EAW80201,AAH26125,AAH27591,CAI45976,BAA11347,Q5H9P8,Q92526 Hs.73072 GDB:9958150 CCT-zeta-2|CCTZ-2|Cctz2|TCP-1-zeta-2|TSA303 protein-coding 1315027 CCT7 chaperonin containing TCP1, subunit 7 (eta) This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only two of them have been characterized to date. 1580863 9819444,16236267,16169070,15815621,15489334,15347653,14532270,12477932,11591653,11532003,9373149,9250675,8982604,8125298,7953530 10574 NM_006429,NM_001009570,AC010913,CH471053,AF026292,AI571508,AK098549,AK098825,AK222478,AK291961,BC019296,BC088351,BM558355,BM918058,CR456719,CR536511,CR590638,CR590640,CR596863,CR597416,CR598786,CR599224,CR599553,CR600066,CR600150,CR600434,CR602206,CR602707,CR603241,CR603373,CR604475,CR605153,CR605603,CR607331,CR608380,CR608432,CR609346,CR610356,CR610859,CR611339,CR612396,CR613435,CR616326,CR617211,CR619505,CR620033,CR620470,CR620671,CR621241,CR622168,CR622512,CR624089,CR626428,U83843 NP_006420,NP_001009570,AAX88902,EAW99738,EAW99739,EAW99740,AAC96011,BAD96198,BAF84650,AAH19296,AAH88351,CAG33000,CAG38749,AAB41437,Q53HV2,Q6IBT3,Q99832,ABM84390,ABM87333 Hs.368149 GDB:9957675 CCT-ETA|Ccth|MGC110985|Nip7-1|TCP-1-eta protein-coding 1313488 CCT8 chaperonin containing TCP1, subunit 8 (theta) 1580863 7890169,16780588,16916647,16021519,15592455,15489334,14532270,12477932,11532003,10830953,10748209,10508479,9373149,8590283,8125298,7584028,7584026,14743216 10694 NM_006585,AF129075,AL163249,CH471079,D42052,AK222490,BC005220,BC012584,BC035472,BC072001,BC095470,BU932439,CR590648,CR594631,CR595879,CR597602,CR600309,CR604257,CR605731,CR609081,CR612497,CR612834,CR617595,CR619682,D13627,Z37163 NP_006576,CAB90433,EAX09924,EAX09925,EAX09926,BAA07652,BAD96210,AAH05220,AAH12584,AAH72001,AAH95470,BAA02792,CAA85520,P50990,Q53HU0,Q7Z759,Q9BS88 Hs.125113 GDB:9784230 Cctq|D21S246|KIAA0002 protein-coding 1605860 CCT8L1 chaperonin containing TCP1, subunit 8 (theta)-like 1 155100 NM_001029866,AC005631,CH471173 NP_001025037,EAW53969 Hs.647100 protein-coding 1605278 CCT8L2 chaperonin containing TCP1, subunit 8 (theta)-like 2 10585773,15461802,12477932 150160 NM_014406,AP000365,AP000547,AP003553,CH471193,BC022006,BC033797,BC100811,BC100812,BC100813,BC139842,CR456508 NP_055221,BAA84680,BAB43952,EAW57714,AAH33797,AAI00812,AAI00813,AAI00814,AAI39843,CAG30394,Q5XKH7,Q96SF2,Q9UJS3,AAI39927,ABM83008,ABM86201 Hs.128342 CESK1|MGC118839|MGC118840 protein-coding 1345429 CCV cataract, congenital, Volkmann type 7607651 7792 GDB:1336655 1322663 CD109 CD109 molecule CD109 is a GPI-linked cell surface antigen expressed by CD34+ acute myeloid leukemia cell lines, T-cell lines, activated T lymphoblasts, endothelial cells, and activated platelets (Lin et al., 2002 [PubMed 11861284]). In addition, the platelet-specific Gov antigen system, implicated in refractoriness to platelet transfusion, neonatal alloimmune thrombocytopenia, and posttransfusion purpura, is carried by CD109 (Kelton et al., 1990 [PubMed 2346781]; Lin et al., 2002 [PubMed 11861284]).[supplied by OMIM] 17922683,17493171,16959974,16754747,16335952,16263699,15826242,15569238,14980714,14702039,14574404,12799300,11861285,2346781,1984805,11861284,10972910 135228 AF410460,AL590428,AL591480,AY736553,AY736554,AY736555,AY736556,AY736557,AY736558,CH471051,AF410459,AK095888,AK123960,AK130104,AL110152,AL834478,AY149920,AY374441,AY374442,NM_133493,AY788891,BX641095,CR599670,EF553520 NP_598000,AAL84160,CAI15636,AAU94640,AAU94641,AAU94642,AAU94643,AAU94644,AAU94645,EAW48752,EAW48753,EAW48754,EAW48755,AAL84159,BAC04642,CAD39137,AAN78483,AAX14639,CAE46045,ABQ66266,Q5XUM6,Q5XUM8,Q5XUN0,Q5XUN1,Q6YHK3,AAI48365,AAI52997 Hs.399891 CPAMD7|DKFZp762L1111|FLJ38569|FLJ41966|RP11-525G3.1 protein-coding 1347263 CD14 CD14 molecule CD14 is a surface protein preferentially expressed on monocytes/macrophages. It binds lipopolysaccharide binding protein and recently has been shown to bind apoptotic cells. Alternative splicing results in multiple transcript variants encoding the same isoform. 1580252,1580255,1580863,1580257 8798531,9548256,9665271,18425216,18417506,18415752,18385826,18320914,18315435,18312481,18288274,18182917,18180796,18180316,18174680,18158110,18157711,18067042,18057002,18056918,18040078,18008256,17982638,17949800,17943182,17934216,17925604,17919709,17916440,17913858,17900622,17877801,17877764,17869646,17846597,17802898,17653770,17617027,17600225,17565650,17515856,17511783,17471431,17456337,17448042,17438094,17436151,17309585,17304102,17274987,17264400,17259806,17217435,16879054,16873708,16860318,16848791,16815140,16785528,16751411,16749413,16706818,16698680,16625214,16614348,16611358,16552356,16538169,16520888,16509825,16492974,16473828,16467036,16446545,16444757,16443672,16437636,16433727,16427140,16409569,16387800,16386288,16385250,16381901,16368002,16344560,16337421,16335952,16331574,16292464,16290232,16283111,16275943,16273622,16273620,16266379,16246938,16239565,16194368,16174099,16174094,16165702,16159630,16148556,16142747,16137548,16109674,16101942,16085746,16061600,16051275,16046876,16038043,15975149,15966209,15946916,15940135,15932345,15879416,15867866,15854776,15842262,15778383,15777548,15764151,15753758,15741437,15714129,15686783,15670766,15655821,15647432,15640605,15619435,15602630,15599151,15591473,15558232,15520404,15516360,15491315,15489336,15489334,15378299,15373760,15369724,15358661,15356557,15292769,15273551,15269840,15257175,15207785,15190267,15175649,15166925,15164100,15143473,15132789,15120158,15116260,15081257,15080833,15069085,15039096,15034063,14996480,14739370,17207357,17205552,17201240,17196641,17187267,17126402,17098305,17087609,17086894,17075287,17067484,17062130,17056323,17052752,17046070,17030237,17007028,17003960,16950521,16950285,16933467,16916546,16893989,16890863,14720421,14706103,14673018,14672339,14648231,14624155,14617510,14587643,14517520,14517492,14510720,14508193,14500479,12960274,12942028,12940436,12938192,12911501,12897754,12885845,12853157,12832426,12825176,12757265,12756848,12754215,12731067,12700637,12679473,12663765,12626456,12624278,12594207,12580907,12566518,12492251,12477932,12450609,12438323,12417309,12410798,12404174,12324469,12207338,12196527,12185442,12174084,12171914,12140663,12126249,12117913,12106839,12103253,12101079,12082592,12075251,12067299,12011764,12006789,11985523,11935032,11932927,11876746,11854210,11843056,11841490,11825494,11810121,11779220,11745332,11732288,11489942,11343243,11282774,11257272,11199329,11145656,11083760,11076863,11062291,10575214,10395652,9655682,9562334,9142045,7583357,3385210,2779588,2472171,2462937,2453848,2448876,12414752,16189514 1580252,1580255,1580257 929 X13334,NM_001040021,NM_000591,AC116353,CH471062,X06882,AF097942,AY044269,BC010507,BT007331,CR590334,CR590355,CR590525,CR591451,CR593752,CR594268,CR595571,CR598974,CR600557,CR600702,CR601474,CR602302,CR603280,CR603424,CR605705,CR609600,CR610580,CR610684,CR612020,CR613552,CR614015,CR614726,CR616071,CR616612,CR617446,CR620138,CR620234,CR620555,CR626311,CR626579,DA681405,M86511 AAA51930,CAA31711,P08571,Q0JSE1,Q53XT5,CAL37570,CAL37702,CAL38264,CAL38573,NP_001035110,NP_000582,EAW62037,CAA29999,AAC83816,AAL02401,AAH10507,AAP35995 Hs.163867 GDB:119759 cd14 antigen protein-coding 733300 CD151 CD151 molecule (Raph blood group) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. 1580863 14676841,9602068,8627808,18328426,18000614,17716972,17632541,17265493,17009258,16798740,16571677,16490193,16297202,16139245,15677332,15591117,15489334,15265795,15226180,12579280,12477932,12456024,11907260,11884516,11809818,11774285,11739647,11337467,11278880,11181065,10811835,10447000,10229664,10036233,9373149,9111230,9070943,8125298,7632941,1958484,12775420,15492270 977 CR456826,CR542098,NM_004357,D29963,U14650,NM_139030,NM_139029,NM_001039490,NG_007478,AF315942,AP006621,AP006623,CH471158,DQ074789,AK130369,AK223186,AK293073,AL161965,AU099249,BC001374,BC013302,BQ957432,BT007397,BT020132 CAG33107,CAG46895,BAA06229,AAA87064,P48509,Q53FU5,Q6ZNZ0,ABM84596,ABM86743,NP_004348,NP_620599,NP_620598,NP_001034579,AAK14179,EAX02400,EAX02401,EAX02402,EAX02403,EAX02404,EAX02405,EAX02406,EAX02407,AAY68211,BAC85335,BAD96906,BAF85762,AAH01374,AAH13302,AAP36061,AAV38934 Hs.654379 GDB:6045060 GP27|MER2|PETA-3|RAPH|SFA1|TSPAN24 cd151 antigen protein-coding 1342532 CD160 CD160 molecule CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. 1580863 15494480,9973372,9743336,18193050,17237375,17218942,15489334,15073036,12477932,11978774,8090781 11126 NM_007053,AL390725,CH471244,AA463248,AF060981,AI241015,AK128370,BC014465,CR541867,CR541888 NP_008984,CAI13713,CAI13714,EAW71440,AAC72302,BAC87403,AAH14465,CAG46665,CAG46686,O95971,Q6FH89,Q6ZRA9,ABM83981,ABM87303 Hs.488237 BY55|FLJ46513|NK1|NK28 cd160 antigen protein-coding 1321258 CD163 CD163 molecule 15479433,8370408,18320015,18316565,18078989,17947394,17629586,17548657,17525367,17460152,17117055,17102136,17095719,16522161,16434690,16335952,16189277,15846794,15624762,15613100,15489334,15478309,15448162,15146432,15075364,14962251,14656926,12477932,12377940,12296867,12208511,12115225,11865982,11854028,11688984,11334962,11298324,11196644,11124526,10648003,10577520,10403791,10066432,9373149,8125298 9332 NM_004244,NM_203416,AC131206,CH471116,Y18388,AA962842,AI128043,AK226017,BC051281,DQ058615,Z22968,Z22969,Z22970,Z22971 NP_004235,NP_981961,EAW88662,EAW88663,EAW88664,EAW88665,EAW88666,CAB45233,AAH51281,AAY99762,CAA80541,CAA80542,CAA80543,CAA80544,Q86VB7 Hs.504641 GDB:9958989 M130|MM130 cd163 antigen protein-coding 1603525 CD163L1 CD163 molecule-like 1 This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. 16344560,15340161,12975309,12477932,11124526,11086079 283316 NM_174941,AC131205,AC131206,AC131207,CH471116,AF264014,AK058038,BC104962,BC104964,BQ024006,DA851620,DB145231 NP_777601,EAW88667,EAW88668,AAF91396,AAI04963,AAI04965,Q2M3B7,Q9NR16 Hs.631727 CD163B|M160 protein-coding 736961 CD164 CD164 molecule, sialomucin 1580863 10878358,17077324,16924678,16859559,15916720,14574404,12477932,11862985,1478919,10491205,11027692,9763543,9680353 8763 AF299341,AF299342,AF299343,BC011522,BC037914,BC040317,CR622213,D14043,NM_006016,AF299340,AL359711,CH471051,AF106518,AF263279 AAG53906,AAG53907,AAG53908,AAH11522,BAA03130,O95413,Q04900,Q9BPV0,Q9NR26,ABM81960,ABM85139,NP_006007,AAG53903,AAG53904,AAG53905,CAI40700,CAI40702,CAI40703,CAI40704,EAW48348,EAW48349,EAW48350,EAW48351,EAW48352,EAW48353,EAW48354,EAW48355,AAC82473,AAF85965 Hs.520313 GDB:9956857 MGC-24|MUC-24|endolyn cd164 antigen protein-coding 1603478 CD164L2 CD164 sialomucin-like 2 16710414,16344560,15340161,12975309 388611 NM_207397,AL096774,CH471059,AY358761,BC137466,BM145910,DB231017 NP_997280,CAI19568,CAI19569,CAI19570,EAX07755,AAQ89121,AAI37467,Q6UWJ8 Hs.664836 UNQ6122 protein-coding 1603627 CD177 CD177 molecule NB1, a glycosyl-phosphatidylinositol (GPI)-linked N-glycosylated cell surface glycoprotein, was first described in a case of neonatal alloimmune neutropenia (Lalezari et al., 1971 [PubMed 5552408]).[supplied by OMIM] 18156711,17980909,17976520,17580308,17244676,16682284,16502591,15985544,15951300,15572213,15489334,15340161,15043575,14701686,14692971,12975309,12901344,12756017,12623849,12617169,12591276,12477932,12377969,12239154,12010833,11846455,11465086,10753836,9373149,8301201,8125298,5552408,1382544,16189514 57126 NM_020406,AC005392,AB237911,AF146747,AJ290452,AJ305326,AJ310433,AK225226,AK290965,AY358932,BC029167,BT020111,CR592446,CR608112 NP_065139,BAE93254,AAG00895,CAC44459,CAC83758,CAC83724,BAF83654,AAQ89291,AAH29167,AAV38914,Q1T7A3,Q8N6Q3,ABM82971,ABM86165 Hs.232165 HNA2A|NB1|PRV1 protein-coding 1317791 CD180 CD180 molecule CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. 1580863 8975706,17448566,15852007,15489334,15342556,15340161,12539042,12477932,9763566,9686597 4064 NM_005582,AC026445,CH471137,AL544501,AL570708,AW512119,BC109069,BC109070,BP344300,CR601140,D83597 NP_005573,EAW51318,AAI09070,AAI09071,BAA12019,Q99467 Hs.87205 GDB:1230162 LY64|Ly78|MGC126233|MGC126234|RP105 lymphocyte antigen 64 homolog, radioprotective 105kda (mouse) protein-coding 1319228 CD19 CD19 molecule Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. 1580863 11080163,10933394,10706702,10201980,9804823,9694255,9648915,9178909,9120258,7589101,7568175,7528218,7513297,2459292,1702139,1383329,1375324,1370948,8647200,1373518,1714482,2472450,18174230,18051214,17882224,17493148,17327405,16672701,16430962,16430470,16352804,16344560,15593213,15549146,15489334,15187135,15144712,14607925,12477932,12387743,12215898,12002767,11120811 930 NM_001770,NG_007275,AB052799,AC109460,AF045018,CH471267,M62550,M84371,AK130657,BC006338,BC052294,DA959905,M21097,X13312 NP_001761,BAB60954,AAD02340,EAW52008,EAW52009,EAW52010,EAW52011,EAW52012,EAW52013,AAB60697,AAA69966,BAC85403,AAH06338,AAA35533,P15391,Q6ZNU2,Q71UW0,ABM83942,ABM87260 Hs.652262 GDB:127605 B4|MGC12802 cd19 antigen protein-coding 1351549 CD1A CD1a molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternatively spliced transcript variants have been observed, but their biological validity has not been determined. 1580863 2447586,18251780,18184269,18178838,17652534,17428545,17197902,17082618,16820217,16670277,16598657,16344560,16272286,16208376,15864273,15756258,15749918,15723809,15556687,15099564,15032598,14991068,14739458,12925210,12833155,12477932,12415264,11580851,10963609,10626896,10488738,8729450,7517559,3097645,3093894,3053166,2784820,2701945,2583117,2478463,1301170,17077296,16454711,15262497,16189514 909 NM_001763,AF142665,AL121986,CH471121,M14663,M22080,M22163,M22164,M22165,M22166,M22167,BC031645,CA432941,CR603267,DB108750,M27735,M28825,X04450 CAA28049,P06126,Q5TDJ8,Q8N5T0,ABM82272,ABM85452,NP_001754,AAD37578,CAI10848,EAW52843,EAW52844,AAA51934,AAA51932,AAH31645,AAA51933,AAA51931 Hs.1309 GDB:120575 CD1|FCB6|HTA1|R4|T6 cd1a antigen, a polypeptide protein-coding 1348815 CD1B CD1b molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. 1580863 12118248,1702817,2447586,2701945,16874306,16794581,16710414,16272286,15880118,15864273,15556687,15489334,15032598,14764708,14716313,14551186,12477932,12415264,12049721,11938350,11847129,11580851,11160317,11035089,10899914,10626896,10488738,8729450,7542404,7527500,3097645,2583117 910 NM_001764,AF142666,AL121986,CH471121,M14665,M22168,M22169,M22170,M22171,M22172,M22173,AI336342,BC069481,BC074747,BC104216,BC104217,CD687240,CR601779,M28826 NP_001755,AAD37579,CAI10852,CAI10853,EAW52841,AAA51936,AAA51940,AAH69481,AAH74747,AAI04217,AAI04218,AAA51939,P29016,Q9UN97 Hs.1310 GDB:120576 CD1|CD1A|MGC125990|MGC125991|R1 protein-coding 1344711 CD1C CD1c molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. 1580863 1702817,2447586,2701945,16710414,16272286,15749918,15611286,15556687,15489334,15032598,14551186,12486100,12477932,12454749,12415264,11580851,10899914,10890914,10786796,10626896,10488738,9373149,8729450,8125298,7517559,3097645,2583117,11145857 911 AF142667,AL121986,CH471121,M14667,M18232,M22174,M22175,M22176,M22177,M22178,AA824381,AK226024,BC126465,BC126467,NM_001765,CR457080,CR615066,M28827,X79311 NP_001756,AAD37580,CAI10850,CAI10851,EAW52842,AAA51938,AAA51942,AAI26466,AAI26468,CAG33361,AAA51941,P29017 Hs.132448 GDB:120577 BDCA1|CD1|CD1A|R7 cd1c antigen, c polypeptide protein-coding 1353762 CD1D CD1d molecule This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. 1580863 14500461,10523605,11315191,18378792,18253929,18068183,17726154,17581592,17476670,17475845,17372201,17363727,17071611,17071498,17015708,16820217,16818729,16710414,16675349,16517731,16456021,16178273,16148122,16091469,16007090,15916790,15665086,15654963,15489334,15345586,15265953,15243159,15187105,15128771,15100293,15032598,14716312,14551186,14530337,12952923,12730881,12618910,12477932,12454749,12415264,12368486,12239218,12133957,11968185,11927549,11777966,11754812,11580851,11257307,11006091,10488738,10473580,10221650,9601940,9374463,9373149,8729450,8125298,7517575,3097645,2583117,2467814,2463622,1717564,15790518,16454711,16385629,16189514 912 NM_001766,AF142668,AL138899,CH471121,L38816,L38817,L38818,L38819,L38820,M14664,X14974,AK225996,BC027926,BX106524,CR615787,J04142 NP_001757,AAD37581,EAW52847,EAW52848,EAW52849,AAA59672,AAA51935,CAA33099,AAH27926,AAA59673,P15813 Hs.1799 GDB:118764 CD1A|MGC34622|R3 cd1d antigen, d polypeptide protein-coding 1352820 CD1E CD1e molecule This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Several alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. 1580863 2467814,17428545,16820217,16344560,16311334,15752135,15032598,12671734,12144626,11580851,11019917,10948205,10488738,7566098,3097645,3053166,2583117 913 NM_001042584,NM_001042585,NM_001042586,NM_001042587,AF142669,AF364031,AF364032,AF364033,AF364034,AJ251334,AJ251335,AL121986,CH471121,M14666,X14975,AA283335,AA354546,AJ289111,AJ289112,AJ289113,AJ289114,AJ289115,AJ289116,AJ289117,AJ289118,AJ289119,AJ289120,AJ289121,AJ289122,BC131693,CR598515,CR608653,CR611169,DA827206,X79517,X79518,X79519,NM_030893,NM_001042583 NP_001036049,NP_001036050,NP_001036051,NP_001036052,AAD37582,AAK52913,AAK52914,CAB82829,CAC07175,CAI10854,CAI10855,CAI10856,CAI10857,CAI10858,CAI10859,CAI10860,CAI10861,CAI10862,CAI10863,CAI10864,CAI10865,CAI10866,EAW52828,EAW52829,EAW52830,EAW52831,EAW52832,EAW52833,EAW52834,EAW52835,EAW52836,EAW52837,EAW52838,EAW52839,EAW52840,AAA51937,CAA33100,CAB93150,CAB93151,CAB93152,CAB93153,CAB93154,CAB93155,CAB93156,CAB93157,CAB93158,CAB93159,CAB93160,CAB93161,AAI31694,CAA56053,CAA56054,CAA56055,P15812,Q13973,Q13974,Q13975,Q5TDJ9,Q5TDK3,Q5TDK4,Q5TDK5,Q5TDK6,Q5TDK8,Q5TDL1,Q5TDL4,Q712E4,Q712E5,Q712E6,Q712E7,Q712E8,Q712E9,Q712F0,Q712F1,Q712F2,Q712F3,Q712F4,Q712F5,Q96TD0,Q96TD1,NP_112155,NP_001036048 Hs.249217 GDB:119760 CD1A|R2 cd1e antigen, e polypeptide protein-coding 10305 CD2 CD2 molecule 1580863 10642604,10510361,10404223,10380930,9857189,9843987,9743208,9741631,9677430,9373149,8977276,8809126,8551220,8125298,7994575,7933095,7915183,7686927,7539755,7517794,3490670,2901953,2894031,2883656,2444890,2437578,2111780,1976695,1385321,1377404,1351089,1346273,1832084,9475352,7589092,16189514,8095265,3085210,7914908,11152963,1970422,7544493,12356317,2471997,10575274,9270771,11376005,11591762,12714509,11544295,17168569,17085486,16803907,16710414,15528362,15489334,12731040,12690097,12530983,12477932,12426371,12369898,12032326,11932928,11602341,11575926,11090067,10722370 914 NM_001767,AL135798,CH471122,CS278858,M19806,X07871,AK223393,BC033583,CR608242,M14362,M16336,M16445 NP_001758,EAW56661,CAJ86523,AAA53095,CAA30721,BAD97113,AAH33583,AAA35571,AAA51946,AAA51738,P06729,Q53F96,Q5JVN7,ABM81879,ABM85041 Hs.523500 GDB:118735 SRBC|T11 cd2 antigen protein-coding 1606033 CD200 CD200 molecule The protein encoded by this gene is a type-1 membrane glycoprotein, which contains two immunoglobulin domains, and thus belongs to the immunoglobulin superfamily. Studies of the related genes in mouse and rat suggest that this gene may regulate myeloid cell activity and delivers an inhibitory signal for the macrophage lineage in diverse tissues. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. 3032785,18060862,18040859,18008004,17964286,16354172,16344560,16303743,16177086,15955564,15699757,15489334,12477932,11726033,11260322,11099416,2902568,12960329,10981966 4345 NM_001004196,NM_005944,AC112487,CH471052,CQ783788,X05323,X05324,X05325,X05326,AF063591,AK074972,AK129797,AL832529,AW294653,AY603771,BC022522,BC031103,BI547787,CR590097,CR593426,CR596077,CR611430,CR619562,CR620294,CR621717,DA544134 NP_001004196,NP_005935,EAW79672,EAW79673,EAW79674,EAW79675,EAW79676,CAF86862,CAA28943,AAG43150,AAT37533,AAH22522,AAH31103,P41217,ABM83294,ABM86503 Hs.79015 MOX1|MOX2|MRC|OX-2 protein-coding 1606724 CD200R1 CD200 receptor 1 This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. 12853143,12477932,11133863,18040859,17714785,16354172,16177086,15661892,15340161,15220441,15070969,12975309,12960329,10981966 131450 NM_138806,NM_138940,NM_138939,AC074044,CH471052,AF283760,AF495380,AF497548,AF497549,AF497550,AK126349,AK293071,AY284975,NM_170780,AY358910,BC069661,BC069721,BC069743,BC093890 NP_740750,NP_620161,NP_620386,NP_620385,EAW79657,EAW79658,EAW79659,EAW79660,EAW79661,AAN61171,AAM14622,AAM16157,AAM16158,AAM16159,BAF85760,AAQ19772,AAQ89269,AAH69661,AAH69721,AAH69743,AAH93890,Q52LJ7,Q6IS95,Q6WHB8,Q8TD46 Hs.309158 CD200R|HCRTR2|MOX2R|OX2R protein-coding 1602956 CD200R2 CD200 cell surface glycoprotein receptor isoform 2 15471863 344807 NM_001008784,AC074044,AC092892,AY284976,AY552790 NP_001008784,AAQ19773,AAT00538,Q6Q8B3,Q6WHB7 Hs.531814 CD200RLa protein-coding 1347897 CD207 CD207 molecule, langerin The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. 1580863 10661407,18061677,17938236,17334373,16567809,15831940,15816828,15489334,15222130,14991068,14610287,12477932,12352970,9847074,17077296,16547227 50489 NM_015717,AC007395,CH471053,AJ242859,BC022278 NP_056532,EAW99793,CAB62403,AAH22278,Q9UJ71,ABM82890,ABM86080 Hs.199731 CLEC4K|LANGERIN cd207 antigen, langerin protein-coding 1320216 CD209 CD209 molecule The phylogenetically ancient innate immune system governs the initial detection of pathogens and stimulates the first line of host defense. Recognition of pathogens is mediated by phagocytic cells through germline-encoded receptors, known as 'pattern recognition receptors,' which detect pathogen-associated molecular patterns that are characteristic products of microbial physiology. This initial interaction is then translated into a set of endogenous signals that ultimately lead to the induction of the adaptive immune response. The C-type lectin receptors are involved in the primary interface between host and pathogens. Two prototypic members of the C-type lectin-receptor family act as both cell-adhesion receptors and pathogen-recognition receptors: CD209 and its close relative CD209L (MIM 605872) (Barreiro et al., 2005 [PubMed 16252244]).[supplied by OMIM] 12571844,12515819,12515809,12502850,12496255,12477932,12433371,12352970,12239306,12223058,12176900,12122001,12083838,12050398,12050176,12021323,11884427,11859097,11825572,11799181,11799126,11739956,11384997,11257134,11017109,10975799,10721995,10721994,1602151,16547227,17010165,17151103,17077296,16817962,16672549,16611055,16365436,15752559,15709021,15572157,15545354,15518824,15215692,15208262,15043214,14603101,12941144,12797442,12438611,12097593,11337487,1518869,18424363,18337571,18318050,18310320,18285492,18171520,18167547,18082570,18080533,18078989,18076668,18073208,18070336,17962491,17940955,17913809,17876530,17715238,17659761,17611589,17530998,17530994,17509452,17496896,17462920,17202372,17145745,17056872,17055489,17055357,17041212,17005819,17001080,16940507,16865785,16839201,16807379,16797773,16698431,16641270,16501104,16469696,16424204,16420576,16386217,16379498,16274635,16252244,16246332,16177066,16155001,16099912,16092920,16061998,16051608,15880118,15855154,15845642,15838793,15838506,15728245,15564514,15509576,15494514,15452205,15385553,15371595,15319853,15210758,15184372,15111305,14970226,14963164,14709546,14707095,14576049,14519388,12960240,12960229,12949494,12783086,12692233,12645952,12626400,12598322,12594843,12574325,11745695,11711593,11588046,17182696,17083721,16454711,15638726,12836198,11825573,16439540,12634366,15254204 30835 NM_021155,AC008763,AC008812,AF209479,CH471139,CQ796864,CS126908,AF290886,AK293089,AY042221,AY042222,AY042223,AY042224,AY042225,AY042226,AY042227,AY042229,AY042230,AY042231,AY042232,AY042233,BC110615,M98457,AY042228 NP_066978,AAG13814,EAW68991,EAW68992,EAW68993,EAW68994,EAW68995,EAW68996,EAW68997,EAW68998,EAW68999,EAW69000,EAW69001,CAG26528,CAJ18838,AAK20997,BAF85778,AAK91846,AAK91847,AAK91848,AAK91849,AAK91850,AAK91851,AAK91852,AAK91853,AAK91854,AAK91855,AAK91856,AAK91857,AAK91858,AAI10616,AAF77072,Q2TB19,Q9NNX6 Hs.278694 GDB:10796780 CDSIGN|CLEC4L|DC-SIGN|DC-SIGN1|MGC129965 cd209 antigen protein-coding 1323159 CD22 CD22 molecule 1580863 8627166,8647200,8496602,18174230,17728258,17585360,17562860,17493148,16806233,16344560,15899772,15668918,15588985,15240561,15133509,15057824,12646615,12477932,11994426,11967116,11882357,11826756,11551923,11215824,10748054,10079291,9890995,9774390,9373149,9143697,9120258,8702538,8475064,8463235,8125298,7925291,7618087,7537381,1985119,1691828,1401903,12853962 933 AB013007,AB253793,AB253794,AB253795,EF064756,S61375,U62631,AK026467,AK225625,AK225694,BC109306,BC109307,DA931592,X52785,X59350,AB012995,AB012996,AB012997,AB012998,AB012999,AB013000,AB013002,AB013003,AB013004,AB013005,AB013006,NM_001771 BAA36575,BAA36576,BAF32756,BAF32757,BAF32758,ABK41939,AAC18956,AAB06448,AAB06449,BAB15489,AAI09307,CAA36988,CAA42006,O60926,P20273,Q0EAF5,Q32M46,Q9H5X8,Q9UQB1,Q9UQB2,NP_001762,BAA36564,BAA36565,BAA36566,BAA36567,BAA36568,BAA36569,BAA36571,BAA36572,BAA36573,BAA36574 Hs.643440 GDB:127545 FLJ22814|MGC130020|SIGLEC-2|SIGLEC2 cd22 antigen protein-coding 1323011 CD226 CD226 molecule This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. 1580863 8673704,17875681,16987076,16887814,16831868,16015041,15693793,15661884,15607800,15536144,15489334,15138281,15136589,15039383,14676297,12913096,12847109,12477932,10591186 10666 NM_006566,AC011930,AC090231,AC091137,CH471117,AJ537553,AK313199,BC074787,U56102 NP_006557,EAW66515,CAD61184,BAG36015,AAH74787,AAC50560,Q15762 Hs.660130 DNAM-1|DNAM1|PTA1|TLiSA1 protein-coding 736340 CD24 CD24 molecule This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and in many B cells. The encoded protein is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. An alignment of this gene's sequence finds genomic locations with similarity on chromosomes 3p26, 15q21, 15q22, 20q11.2 and Yq11.1. Whether transcription, and corresponding translation, occurs at each of these other genomic locations needs to be experimentally determined. 1358462,1580863 8753773,9129046,15633604,11313396,8213086,11272271,16532032,8223854,16390867,2153173,16930538,12496407,10037815,15174142,15493995,17980703,17950993,17944116,17900673,17763438,17700640,17540049,17475624,17411341,16900767,16892043,16890615,16681720,16631259,16621031,16288985,16166435,16164042,16125303,15616015,15489334,14702039,14657362,12829373,12610508,12477932,12447971,12368195,12218294,10575223,8928617,7959762,7553654,1831224,1327504 1358462 934 NM_013230,AK026603,AK125531,AL535013,BC064619,BG260536,BT007404,CR623460,D87667,L33930,M58664,X69397 NP_037362,AAH64619,AAP36068,AAB58807,AAA35665,CAA49195,P25063,ABM92253,ABM84738 Hs.644105,Hs.694721 GDB:383795 CD24A cd24 antigen protein-coding 736436 CD244 CD244 molecule, natural killer cell receptor 2B4 Natural killer (NK) cells express both activating and inhibitory cell surface receptors. Inhibitory signaling receptors all possess cytoplasmic immunoreceptor tyrosine-based inhibitory motifs, or ITIMs, whereas the activating receptors lack ITIMs and associate with DAP12 (TYROBP; MIM 604142), which contains an immunoreceptor tyrosine-based activation motif, or ITAM. Killer cell immunoglobulin (Ig)-like receptors, or KIRs (see KIR2DL1; MIM 604936), and other NK cell receptors interact with major histocompatibility complex (MHC) molecules (see MIM 142800). Members of the CD2 (MIM 186990) family adhere to each other instead. The cell surface glycoprotein 2B4 is related to CD2 and is implicated in the regulation of NK- and T-cell function (Boles et al., 1999 [PubMed 10458320]).[supplied by OMIM] 1580863 10358138,17981603,17609265,17599905,17300754,17171759,17111350,16803907,16621032,16585556,16410313,16177062,16081768,16002700,15713798,15677558,15611233,15489334,15356108,15340161,15195244,15169881,12515815,12477932,12363025,12077228,11986947,11917118,11815622,11774610,11714782,11714776,11689425,11477068,11342640,11163399,11034353,11003394,10934222,10556801,10458320,10359122,9841922,9834056,3772297 51744 NM_016382,AF297616,AL354714,CH471121,CS173034,AF105261,AF107761,AF117711,AF145782,AF242540,AF363452,AJ245375,AJ245376,AJ245377,BC028073,BC041607,BC053985 NP_057466,AAK57926,CAH72353,CAH72354,CAH72355,EAW52691,EAW52692,EAW52693,EAW52694,CAJ33698,AAD32538,AAD37838,AAF28833,AAD38951,AAK00233,AAK50015,CAC00647,CAC00648,CAC00649,AAH28073,AAH53985,Q5VYI2,Q5VYI5,Q5VYI6,Q5VYI7,Q96RQ2,Q9BZW8 Hs.157872 2B4|NAIL|NKR2B4|Nmrk|SLAMF4 non mhc restricted killing associated protein-coding 736538 CD247 CD247 molecule The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1600789,1580863 14672952,14550268,14526327,14523017,12928398,12902492,12847689,12755691,12731048,12587826,12522270,12477932,12421992,12420108,12356870,12202152,12176041,12165490,12100036,11950832,11920499,11916964,11891219,11851345,11714771,11572860,11349123,10799879,10722370,10449770,10424441,10224289,9880255,9743208,9687533,9677202,9625766,9575182,9510190,9485181,9484780,9448136,9373149,9368621,9172452,9047237,12110186,8176201,11390434,11048639,11827988,15489916,17652306,1390434,18178846,18174230,17997796,17951997,17464179,17255353,17176095,17134755,17134238,17055436,17054067,16710414,16672702,16616055,16393980,16337488,16094384,15922712,15879101,15749888,15743765,15659558,15641485,15592455,15489334,15323357,15274412,15144186,14967045,14757743,14715568,9045614,8977276,8809126,8760790,8675217,8656061,8366117,8125298,7842742,7680960,7629168,7589084,7528772,7526385,7517794,7514106,3785426,3478717,2974162,2845582,2145165,2138330,2138083,2111780,1717577,1532817,1530920,1454062,1385321,1385158,17001685,16454711,15186530,12734410,11463741,11525746,16189514 1600789 919 NM_198053,NM_000734,NG_007384,AL031733,AL359962,CH471067,DQ072717,S94400,S94404,S94414,AF228312,AI420774,AK128376,AK223325,AK313946,AL557555,BC025703,BI819937,CR601423,CR614814,CR615998,CR619292,CR625818,J04132,X55510,X55511,X55512 NP_932170,NP_000725,CAI21381,EAW90790,EAW90791,EAW90792,AAY57330,AAF34793,BAC87407,BAD97045,BAG36664,AAH25703,AAA60394,P20963,Q5VX14,Q6KAV0,ABM84704,ABW03642 Hs.156445 GDB:119766 CD3-ZETA|CD3H|CD3Q|CD3Z|T3Z|TCRZ cd3 antigen, zeta polypeptide protein-coding 1353954 CD248 CD248 molecule, endosialin 10947988,17986615,16076089,15862292,15624764,15489334,14702039,12477932,11489895,11084048,1438285 57124 NM_020404,AP001107,CH471076,AF279142,AJ295846,AK027290,BC051340,BC104484,BC105633,BQ005949,CR591995,CR613070 NP_065137,EAW74511,AAG00867,CAC34381,BAB55018,AAH51340,AAI04485,AAI05634,Q9HCU0 Hs.195727 CD164L1|MGC119478|MGC119479|TEM1 protein-coding 1345556 CD24L1 CD24 molecule-like 1 7959762 935 AL121992 GDB:383818 protein-coding 1347175 CD24L2 CD24 molecule-like 2 7959762 936 AC084783 GDB:383819 protein-coding 1351433 CD24L3 CD24 antigen-like 3 7959762 937 GDB:383821 1352393 CD24L4 CD24 molecule-like 4 15489334,7959762,1831224,1327504 938 NG_006012,AC009235,CR591421,CR598378,CR608613,CR609933,S75311 AAD14170 Hs.644105,Hs.694721 GDB:383841 pseudo 1353701 CD27 CD27 molecule The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. 1580863 12324477,14556986,10809378,12624711,18005092,17942751,17785788,17548342,17475894,16951333,16802356,16751420,16272303,15723067,15685542,15489334,15356138,15340161,15301860,15230280,14702039,12743427,12685844,12477932,12464570,12197885,12009595,11976819,11801693,11062504,9862673,9794406,9767422,9692890,9582383,9177220,8580829,8530100,8186199,8120384,7479974,2837508,2442250,1655907,1334106,9263011,16189514 939 NM_001242,AC005840,AY504961,CH471116,BC012160,BI225100,CR618820,M63928 NP_001233,AAR84239,EAW88800,AAH12160,AAA58411,P26842,ABM83222,ABW03460 Hs.355307 GDB:132582 MGC20393|S152|T14|TNFRSF7|Tp55 protein-coding 1605684 CD274 CD274 molecule 10581077,18322304,18301333,18294387,18203952,18086898,17942371,17938288,17920123,17603844,17597384,17562772,17475895,17415709,17363736,17360651,17311651,17203303,17186290,17136123,16916652,16876901,16530813,16493058,16482562,16282703,16265694,16221208,16085391,16002716,15973152,15837746,15780196,15489334,15342209,15297412,15164053,15131796,14702039,14686489,14617032,12923066,12893276,12800259,12719480,12704383,12646628,12606489,12538684,12477932,12468426,12244148,12091876,11015443 29126 NM_014143,AL135786,AL162253,CH471071,AF177937,AF233516,AK001894,AY254342,AY291313,AY714881,BC069381,BC074984,BC113734,BC113736,DQ286582,DQ836393 NP_054862,CAI15983,EAW58763,AAF25807,AAG18508,BAA91966,AAP13470,AAP42144,AAU09634,AAH69381,AAH74984,AAI13735,AAI13737,ABB90152,ABI16084,Q0GN75,Q2V8D5,Q9NZQ7 Hs.521989 B7-H|B7H1|MGC142294|MGC142296|PD-L1|PDCD1L1|PDCD1LG1|PDL1 protein-coding 1604282 CD276 CD276 molecule Costimulatory B7 molecules (e.g., B7-1, or CD80; MIM 112203) signal through CD28 (MIM 186760) family molecules such as CD28, CTLA4 (MIM 123890), and ICOS (MIM 604558).[supplied by OMIM] 11224528,15188059,17406098,16303743,16274630,16049332,15961727,15682454,15489334,15314238,14764704,14702039,12975309,12906861,12477932,12055244 80381 NM_001024736,NM_025240,AC022188,AC100838,CH471082,AF302102,AJ583695,AK074849,AK074997,AK075549,AK291721,AK292711,AL360136,AY358343,BC011578,BC062581,BQ278722,CA420873,CB529187 NP_001019907,NP_079516,EAW77933,EAW77934,AAK15438,CAE47548,BAC11243,BAC11344,BAC11692,BAF84410,BAF85400,AAQ88709,AAH62581,Q5ZPR3 Hs.77873 B7-H3|B7H3 protein-coding 735932 CD28 CD28 molecule CD28 costimulation is essential for CD4 (MIM 186940)-positive T-cell proliferation, survival, interleukin-2 (IL2; MIM 147680) production, and T-helper type-2 (Th2) development.[supplied by OMIM] 1358478,1580863 9784967,3159820,8717514,3875683,12028592,7492435,11285224,11390434,18396212,18337305,18295596,18211507,18174230,18097023,17899554,17878391,17878327,17804530,17785788,17767555,17467674,17311991,17284227,17242350,17237383,17197413,17119120,17060905,17015696,16969077,16818765,16801532,16708397,16698688,16638702,16564528,16493040,16339520,16237465,16169852,16136471,16112024,16094384,16005527,15953005,15815621,15592455,15554700,15494485,15489334,15353589,15284240,15280538,15214045,15194762,15144186,15079071,15067037,15019278,14984593,14975605,14697933,14642527,14550257,12963692,12952926,12928366,12864988,12842899,12626540,12506015,12482386,12477932,12434947,12393716,12377947,12324461,12297341,12207353,12195015,12195013,12167647,12121659,12097397,12077252,12059054,12050373,12036883,11986289,11958588,11932928,11916166,11884439,11877290,11830501,11826754,11826026,11735222,11714771,11713465,11685455,11680900,11500828,11123293,11021528,10820259,10754293,10586033,10430626,9694876,9510190,9045614,8992971,8760790,8621607,8576157,8386518,8080844,7737275,7545666,7539755,7523532,7516408,7513726,7509360,2825196,2162892,2157764,2156778,1847722,1355979,1313075,1832084,17023015,9328113,8450224,7541827,8706326,7589092,12836198,10618429,16454711,15078178,16354571,16091223,12734410,15610849 1358478 940 NM_006139,AC125238,AF411057,CH471063,EF064755,M37815,AF222341,AF222342,AF222343,AJ295273,AJ517504,AK292986,AK313313,AW241446,BC093698,BC112085,J02988 NP_006130,AAY24123,AAL40931,EAW70347,EAW70348,EAW70349,EAW70350,EAW70351,ABK41938,AAA51944,AAA51945,AAF33792,AAF33793,AAF33794,CAC29237,BAF85675,BAG36118,AAH93698,AAI12086,AAA60581,P10747,Q70WG0,CAD57003 Hs.591629 GDB:118765 MGC138290|Tp44 cd28 antigen protein-coding 1347906 CD2AP CD2-associated protein This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. 1581187,1600628,1580863 10339567,12029088,14679214,17922258,17853893,17823309,17713465,17606992,17188587,17081983,17020880,16895919,16707503,16678097,16344560,15800069,15659563,15592455,15489334,12764198,12690097,12672817,12559036,12530983,12477932,11733557,11067845,10997929,10913159,9741631,8889548,15331416,15128873 1581187,1600628 23607 NM_012120,AL355353,AL356421,AL358178,CH471081,AF146277,AF164377,AJ420469,AL050105,BC069444,BU679191,DA040834 NP_036252,CAH73238,CAI16839,EAX04319,AAD34595,AAF80495,CAB43274,AAH69444,Q9Y5K6 Hs.485518 GDB:11508549 CMS|DKFZP586H0519 protein-coding 1323355 CD2BP2 CD2 (cytoplasmic tail) binding protein 2 1580863 17353931,12226669,9843987,17906334,17081983,15840814,15634882,15489334,15105431,12477932,12426371,10574461,10404223,16189514 10421 NM_006110,AC106782,CH471192,AB033004,AF104222,AF109192,BC000495,BC001947,BC013854,CR596969,CR599920,CR613917,CR625493 NP_006101,EAW52260,EAW52261,BAA86492,AAC84141,AAQ13502,AAH00495,AAH01947,O95400,Q5QTR6,ABM84500,ABW03431 Hs.700708 GDB:9956958 FWP010|LIN1|Snu40 protein-coding 1344130 CD300A CD300a molecule The CMRF35 antigen (CMRF35A; MIM 606786), which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes. CMRF35H is recognized by the same antibody and is distinct from CMRF35 (Green et al., 1998 [PubMed 9701027]).[supplied by OMIM] 17588661,16339535,15489334,12477932,12456026,10746781,10540326,9701027,1349532 11314 NM_007261,AC079325,AF176991,CH471099,AF020314,AF161346,AJ010101,AJ010102,AJ010103,AJ224864,AJ238323,BC020681,BC032352,BM923070,CR616430,CR617958 NP_009192,AAF89957,EAW89166,EAW89167,EAW89168,AAD01646,AAF28906,CAB52291,CAB52292,CAB52293,CAB55347,CAB66145,AAH32352,Q9P0F3,Q9UGN4 Hs.9688 CMRF-35-H9|CMRF-35H|CMRF35H|CMRF35H9|IGSF12|IRC1|IRC2|IRp60 cd300a antigen protein-coding 1349208 CD300C CD300c molecule The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM] 1349532,15489334,12477932,12456026,12415263,11556966,10746781 10871 NM_006678,AC079325,AF373866,CH471099,BC022279,X66171 NP_006669,AAK64272,EAW89171,AAH22279,CAA46948,Q08708,ABM82926,ABM86116 Hs.2605 CMRF-35A|CMRF35|CMRF35A|CMRF35A1|IGSF16|LIR cd300c antigen protein-coding 1605230 CD300E CD300e molecule CD300LE is an activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells. It mediates activating signals by interacting with DAP12 (TYROBP; MIM 604142) (Aguilar et al., 2004 [PubMed 15557162]).[supplied by OMIM] 15557162,15549731,12477932 342510 NM_181449,AC064805,CH471099,AF395839,BC100888,BC100889,BC100890,BX648376 NP_852114,EAW89175,EAW89176,AAP42154,AAI00889,AAI00890,AAI00891,Q496F6 Hs.158954 CD300LE|CLM2|IREM2 protein-coding 1604243 CD300LB CD300 molecule-like family member b CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM] 17928527,16920917,16344560,12975309,12477932 124599 NM_174892,AC079325,CH471099,AF427618,AK290925,AY359025,AY646929,BC028091,DA673717 NP_777552,EAW89169,EAW89170,AAN86133,BAF83614,AAQ89384,AAV69612,AAH28091,A8K4G0,ABM84511,ABM87832 Hs.313343 CD300b|CLM7|IREM3|TREM5 protein-coding 2290269 CD300LD CD300 molecule-like family member d 441800 XR_016303,XR_019165 Hs.647402 pseudo 1603897 CD300LF CD300 molecule-like family member f CD300LF is an inhibitory receptor of the Ig superfamily expressed on myeloid cells. It mediates negative regulatory signals by recruiting SHP1 (PTPN6; MIM 176883) or SHIP (INPP5D; MIM 601582) (Sui et al., 2004 [PubMed 15184070]; Alvarez-Errico et al., 2004 [PubMed 15549731]).[supplied by OMIM] 17202342,15549731,15489334,15340161,15184070,14702039,14662855,12975309,12477932 146722 DQ153249,NM_139018,AC016888,CH471099,AF251706,AF375480,AF375481,AK092757,AY303545,AY358545,BC028199,BI911496,BM147210,BM923728 AAZ81566,Q8TDQ1,NP_620587,EAW89184,EAW89185,EAW89186,EAW89187,AAM19099,AAP42152,AAP42153,BAC03966,AAP57942,AAQ88909,AAH28199 Hs.567706 CD300f|CLM1|IREM1|IgSF13|NKIR protein-coding 1601720 CD300LG CD300 molecule-like family member g Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM] 16876123,15340161,12975309,12477932 146894 NM_145273,AC007993,AC015937,CH471178,AF427619,AF427620,AY358364,BC025395 NP_660316,EAW51657,EAW51658,EAW51659,EAW51660,AAN86134,AAN86135,AAQ88730,AAH25395,Q6UXG3 Hs.657365 CLM9|NEPMUCIN|TREM4 protein-coding 1350388 CD302 CD302 molecule 15815621,15489334,12824192,12477932,7584028,7584026 9936 NM_014880,AC009961,CH471058,AF499000,AY314007,BC020646,D14664 NP_055695,AAY14942,EAX11399,AAN77050,AAP79900,AAH20646,BAA03498,Q8IX05 Hs.130014 BIMLEC|CLEC13A|DCL-1|KIAA0022 cd302 antigen protein-coding 1352822 CD320 CD320 molecule 15489334,12975309,12477932,11418631,11318610,11230166,9373149,8125298,10727470,11256614 51293 AC010323,CH471139,AF161254,AK058014,AK222623,AL136652,AL365453,AL365455,AY358420,BC000668,BC007083,BC036814,CR457174,CR594295,CR603782,CR603995,CR607353,CR615825,CR621803,CR621881,CR624802,NM_016579 NP_057663,EAW68936,EAW68939,AAF61850,BAD96343,CAB66587,CAB97009,CAB97010,AAQ88786,AAH00668,AAH07083,CAG33455,Q9NPF0,Q9NPM0 Hs.558499 8D6|8D6A protein-coding 1347694 CD33 CD33 molecule 1580863 17662271,16380601,15676214,15489334,15454492,15388576,15342556,12477932,12144127,12063025,11970770,11964282,11943481,11774609,11320212,10556798,10206955,9465907,8702538,8454872,7718872,7505004,1696442,15611322,16189514,10611343,3139766,18331725,18085638,18062779 945 NM_001772,NM_001082618,AC063977,AJ491319,AY040541,CH471135,AK090470,AW007749,AY162464,BC028152,BP303860,CA426969,CA748646,CR592075,M23197 NP_001763,NP_001076087,CAD36509,AAK83654,EAW71994,EAW71995,EAW71996,BAC03451,AAO26206,AAH28152,AAA51948,P20138,Q546G0,Q8NF11,ABM82652,ABM85829 Hs.83731 GDB:119762 FLJ00391|SIGLEC-3|SIGLEC3|p67 cd33 antigen (gp67) protein-coding 1315723 CD34 CD34 molecule CD34 is a monomeric cell surface antigen with a molecular mass of approximately 110 kD that is selectively expressed on human hematopoietic progenitor cells.[supplied by OMIM] 1580863 15249540,12588680,18190781,18187924,18092954,18088553,18085638,18061957,18054528,18025805,17959862,17923501,17885669,17880611,17786144,17656039,17511030,17505307,17474795,17449014,17429142,17310847,17253947,17229904,17185613,17095623,17090657,17077283,17038503,16830365,16710414,16698689,16698686,16557578,16552335,16439688,16415795,16305332,16286998,16278377,16133456,16133360,16051386,15996935,15941859,15752760,15735742,15704650,15569991,15536192,15489334,15277701,15254762,15246162,15242879,15063762,14744088,14718574,14702039,12883699,12865405,12827650,12477932,12393741,12393633,12393582,12215337,12161354,12091359,11983914,11798512,11757722,11389015,10648383,10330415,10233696,9780190,9108388,8889549,8547678,8541536,7678811,2462139,1694174,1693532,1374051,1370171,11782553 947 NM_001773,NM_001025109,AB238231,AL356275,CH471100,CS104354,M81945,AA022917,AF202879,AF523361,AF538601,AK091890,AK291529,AK293030,BC039146,BX538076,CR603236,CR610477,CR613813,M81104,S53910,S53911 NP_001764,NP_001020280,BAE46748,CAI40194,CAI40195,CAI40196,EAW93458,EAW93459,CAJ01226,AAA03659,AAF14634,AAM82157,AAN15135,BAF84218,BAF85719,AAH39146,CAD98000,AAA03181,AAB25222,AAB25223,P28906,Q3C1E7,Q5JTA3,Q5JTA5,Q7Z375,Q8IUM0,Q9UH97,ABM82354,ABM85529 Hs.374990 GDB:125347 cd34 antigen protein-coding 619554 CD36 CD36 molecule (thrombospondin receptor) The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 70461,734720,734721,619666,1625347,1600629,68930,1580863 2468670,7518447,2468669,1715582,7693034,18305138,18299339,18288886,18263877,18053692,18035074,18000176,17924847,17905828,17900273,17888147,17854769,17673938,17581812,17573918,17572512,17496152,17440173,17412877,17380316,17346709,17311893,17084382,17071479,17067553,16952981,16911630,16908526,16887969,16880211,16870193,16838191,16670819,16670153,16645727,16622019,16556603,16515687,16453284,16344560,16299313,16276419,16263699,16219805,16099393,16037098,16002039,15979077,15978955,15970594,17710630,15933580,15915335,15897321,15860439,15780035,15735450,15677505,15671915,15489334,15478802,15342556,15339698,15282206,15242332,15221799,15167446,15132977,15064117,15059642,15050739,15048167,14729862,14719070,14702039,14699114,14684613,12971464,12968020,12947091,12801610,12732844,12716848,12716760,12690205,12679131,12664607,12618277,12606036,12598312,12576469,12516552,12506336,12496189,12479587,12477932,12224819,12169456,12164325,12105195,12031598,12023894,11950861,11872368,11867619,11834946,11718687,11714819,11686358,11668637,11602321,11377606,11238109,10890433,10772961,10772928,10487979,10391209,9555943,9334230,9171348,8798390,8696942,8561798,7693552,7686693,7682812,7533783,7521304,7505064,7503937,2473841,1384492 70461,734720,734721,619666,1625347,1600629,68930 948 NM_001001548,NM_000072,NM_001127443,NM_001127444,AC073182,AC073850,AC124834,AF300625,AF300626,AF300627,AF300628,AF300629,AF300630,AF300631,AF300632,AF300633,AF300634,AF300635,AF300636,AF300637,AF300638,AF300639,AF300640,AY095373,NM_001001547,CH236949,CH471091,L06849,Z22924,Z32770,AA846141,AK057690,AK096858,AK129899,AL596924,BC008406,BP258762,BP259746,CR598434,CR604329,CR605345,CR606551,CR607793,CR609645,CR618066,CR621633,CR623153,CR749465,DA566475,DA857400,DC338512,L06850,M24795,M98398,M98399,S60720,S67044,S67532 NP_001001547,NP_001001548,NP_000063,NP_001120915,NP_001120916,AAG60624,AAG60625,AAG60626,AAG60627,AAG60628,AAG60629,AAG60630,AAG60631,AAG60632,AAG60633,AAG60634,AAG60635,AAG60636,AAG60637,AAG60638,AAG60639,AAM14636,EAL24191,EAW76996,EAW76997,EAW76998,EAW76999,EAW77000,EAW77001,EAW77002,EAW77003,EAW77004,EAW77005,AAB46390,CAA80504,CAA83662,AAH08406,AAA16068,AAA35534,AAA58412,AAA58413,AAD14933,AAB28992,AAD13993,P16671,Q13965,Q9BQA7,Q9BZM7,Q9BZM9,Q9BZN0,Q9BZN1,Q9BZN2,Q9BZN6,ABM83988,ABM87313 Hs.120949,Hs.633085 GDB:138800 CHDS7|FAT|GP3B|GP4|GPIV|PASIV|SCARB3 cd36 antigen (collagen type i receptor, thrombospondin receptor) protein-coding 1346523 CD37 CD37 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. 634638,1580863 2466944,8436422,17440052,17182550,15489334,15342556,14978098,12477932,11739647,10529602,10405235,10229664,8452817,8119731,3257508,2388030,1879540 634638 951 AK058093,AL833693,BC106752,BC110379,BP309557,BT019851,CR541877,CR594834,CR598140,CR612129,CR615545,CR616413,CR618735,X14046,NM_001774,NM_001040031,AC010524,AC011450,CH471177,AA767248 BAB71662,AAI06753,AAI10380,AAV38654,CAG46675,CAA32204,P11049,Q96LM7,NP_001765,NP_001035120,EAW52466,EAW52467,EAW52468 Hs.166556 GDB:138750 GP52-40|MGC120234|TSPAN26 cd37 antigen protein-coding 735841 CD38 CD38 molecule CD38 is a novel multifunctional ectoenzyme widely expressed in cells and tissues especially in leukocytes. CD38 also functions in cell adhesion,signal transduction and calcium signaling. 1580863,1300048 14596927,14523017,12917263,12854897,12763926,12718937,12529675,12477932,12461619,12386160,12382646,12368155,12242463,12063025,11895784,11836173,11683883,10636863,10559984,10477767,10432444,10376802,9754820,9551996,9378973,9074508,8172650,7961800,17440035,17327405,17322278,17287849,17287729,17191385,17173996,17107912,17028452,16932341,16909600,16861223,16841181,16839787,16825496,16642047,16601673,16571778,16568475,16544364,16369895,16329108,16293598,16154090,15964076,15941914,15764953,15759031,15613544,15556942,15489334,15219386,15028729,14990397,14983032,14759258,14749705,10777496,8253715,18424664,18341691,18323656,18322442,18212246,18178673,18162778,18024373,17931624,17684154,17591784,7835083,7539755,2319135,1471258,12551845,10593874,9263011,16189514,17534928 952 NM_001775,AC005798,AF001985,CH471069,D84284,DQ091293,AA417096,BC007964,CD688069,CR606718,CR610722,CR626710,D84276,D84277,M34461 NP_001766,EAW92745,EAW92746,BAA18966,AAY99634,AAH07964,BAA18964,BAA18965,Q4FCX6,ABM84110,ABW03578,AAA68482,P28907 Hs.479214 GDB:119763 T10 cd38 antigen protein-coding 736987 CD3D CD3d molecule, delta (CD3-TCR complex) 1580863 1831653,9485181,11048639,11827988,15489916,17652306,17923503,17176095,17023417,16888097,16412509,16094384,15778375,15592455,15546002,15534202,15489334,15144186,15028279,14602880,12522270,12477932,12410792,12215456,10722370,9743208,9582308,9510190,9045614,8809126,8621641,8278814,8020575,7719941,7517794,7495730,6095101,3488209,3478717,2939461,2859526,2826124,2540970,2138083,2111780,1826255,1385321,1372642,1832084,7774645,8145026,8125527,7506554,1979339,17001685,9263011,7539755,16777597 915 NM_001040651,NM_000732,NG_007566,AP001582,CH471065,EF444964,M12727,X01451,X03934,BC039035,BC070321,CD014058,CR599233,CR611428 NP_001035741,NP_000723,EAW67365,EAW67366,ACA05962,AAA51792,CAA25683,CAA27573,AAH39035,AAH70321,P04234 Hs.504048 GDB:120578 CD3-DELTA|T3D cd3 antigen delta polypeptide protein-coding 1319442 CD3E CD3e molecule, epsilon (CD3-TCR complex) The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. 1580863 12110186,11186279,9485181,9886373,1370449,8530500,12567487,8490660,11390434,11048639,11827988,15489916,17652306,17630354,17507663,17176095,17023417,16412509,16308105,16094384,15592455,15546002,15534202,15489334,15342556,15144186,14757743,14523017,12812314,12734335,12626537,12522270,12499387,12477932,9045614,8920877,8809126,8626450,8366117,7761456,7699329,7541024,7517794,7514106,7500045,7499176,9312149,9120393,3478717,3267235,3012357,2859526,2138083,2111780,1671006,1387664,1385321,1832084,7774645,8145026,8125527,7506554,1979339,17001685,9263011,7539755,16777597,12410792,11855827,11689561,11439187,11115514,10722370,10373416,9780176,9743208,9698567,9687533,9582308,9510190,9378960 916 NM_000733,NG_007383,AP001582,CH471065,M23323,AK292612,AK311641,BC049847,BI910359,BP366535,CR591071,CR608821,CR609568,CR610563,X03884 NP_000724,EAW67360,EAW67361,EAW67362,EAW67363,EAW67364,AAA52295,BAF85301,AAH49847,CAA27516,P07766 Hs.3003 GDB:119764 FLJ18683|T3E|TCRE cd3e antigen, epsilon polypeptide (tit3 complex) protein-coding 1606023 CD3EAP CD3e molecule, epsilon associated protein 9426281,10373416,18289367,17131345,16964243,16817948,16809778,16806233,16690207,15936590,15489334,15302935,15226435,14743216,12477932 10849 NM_012099,AC092309,CH471126,AF017633,AK292183,BC009705,BC028109,BC038992,BC046141,BC054044,BC065251,BC108889,U86751 NP_036231,EAW57346,EAW57347,AAD41158,BAF84872,AAH09705,AAH38992,AAH46141,AAH54044,AAI08890,AAB68608,O15446,Q05BI1,ABZ92467 Hs.705916 ASE-1|CAST|MGC118851|PAF49 protein-coding 1317072 CD3G CD3g molecule, gamma (CD3-TCR complex) The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. 1580863 11186279,9485181,12794121,12407027,11048639,11827988,15489916,17652306,17923503,17822534,17176095,17023417,16916653,16888097,16344560,16094384,15879122,15778375,15489334,15459203,12477932,12410792,12374807,10722370,9743208,9510190,9373149,9045614,8809126,8636209,8125298,7533164,7517794,3478717,3112151,2944745,2826124,2547833,2540970,2138083,2111780,1826255,1709425,1635567,1535555,1387664,1385321,1832084,2139676,7774645,8145026,8125527,7506554,1979339,17001685,9263011,7539755,16777597,15638726,11298321 917 NM_000073,NG_007566,AP001582,CH471065,EF444965,X06026,AK223314,AK310578,AK310622,AK313966,AK315895,BC069685,BC113830,DB116263,DC378393,X04145 NP_000064,EAW67368,ACA05963,CAA29428,BAD97034,BAG36681,BAF98786,AAI13831,CAA27764,P09693,Q05BB1,Q53FH3 Hs.2259 GDB:119765 CD3-GAMMA|FLJ17620|FLJ17664|FLJ79544|FLJ94613|MGC138597|T3G cd3g antigen, gamma polypeptide (tit3 complex) protein-coding 1344403 CD3W CD3W antigen, omega polypeptide (TiT3 complex) 918 GDB:118766 735603 CD4 CD4 molecule 1580863 8512039,12444132,10922058,7486703,10358157,9668045,9551897,9166430,12091904,1901411,2118992,1533274,2014052,15202998,9660940,11048639,11827988,15489916,17652306,8124721,18418773,18377648,1732513,1730924,1701782,1691226,12145207,1457205,15936090,1380260,1381203,17084877,12885233,12406507,9349472,8892926,8891109,8806567,8726523,8560767,8551601,8510207,8437234,8361381,8331723,8280475,8160267,8129620,7897356,7754236,7737288,7707502,7688827,7618285,7592573,6096719,3257102,3095663,3016552,3001934,18167642,18156204,18097956,18089681,18078954,18061610,18045872,18035040,17980430,17975141,17956985,17947540,17855336,17726154,17712998,17653867,17591854,17543960,17522341,17462597,17363727,17346946,17334223,17320923,17304105,17267500,17252589,17237241,17235436,17175221,17065205,17020785,16987062,16979207,16955142,16951326,16873261,16821115,16762062,16758122,16721558,16631599,16344560,16331979,16314494,16309726,16284180,15972448,15956605,15890908,15823605,15821887,15767435,15748900,15731180,15714205,15665762,15660419,15616015,15611114,15489334,15489307,15371410,15340161,15326605,15317218,18261176,18205604,15194762,15063762,14757743,14747534,14722266,14705953,14697933,14570906,14561767,14557639,14500983,13679604,12954211,12899833,12893943,12864967,12842621,12816953,12767984,12746459,12702212,12695117,12639247,12629155,12608057,12586555,12531905,12531788,12517957,12477932,12462973,12368305,12218108,12213222,12055221,12008044,11994538,11959143,11922627,11920312,11906183,11893391,11878912,11854499,11756173,11581410,11535811,11413340,11390434,11140838,11113139,11106664,11024464,11024150,10820003,10816381,10600606,10562325,10559275,10508188,15308751,10413516,10375528,10199403,9780207,9641677,9622505,9558100,9546790,9499087,9417096,9185604,9168119,9151836,9074930,9049413,8924209,8887470,8806575,8723724,8709227,8674120,8659106,8613144,8551619,8510209,8350411,8289353,8246987,8230446,8139011,8091684,8091666,7961587,7910967,7853484,7778293,7676667,7650480,7636191,7539755,10490978,10438529,2995487,2830667,2374593,2109100,1995942,1985197,1910691,1899141,1870202,1845049,1742075,1721822,1720627,1709701,1706342,1636088,1627247,1622897,1602552,1548769,1548744,1546447,1527858,1501286,1457207,1380099,1376135,1370739,1370558,1348943,1281202,15797855,9918507,9451022,8102473,8043225,7576913,7537501,7521897,1691563,1537337,1738091,1373549,8151300,1501294,16829607,9604776,9344703,8801439,8547064,7913036,7589091,1402655,9269777,2015114,16886061,9473011,8862276,7821926,7774645,7545243,2040625,1535086,1491632,1763044,1810199,8648738,8887682,7867080,17187670,17144914,16886053,16227248,16188969,16174727,16103167,16047221,16046522,15990565,15890935,15784911,15748209,3263213,2990730,2845147,2592374,2247146,2214026,1851800,1834739,1727486,1708753,1701030,1618861,1433512,1425921,17083721,7917519,15033567,11453640,9989602,1548763,1535787,17010381,15542675,15258189,15161081,14640682,14624372,14505910,12525600,10776787,8882662,11861835,16507315,17121803,16963439,17005819,17121788,9443108,11201791,11070895,10589997,10233996,10213313,10213312,9600078,9525894,9724097,17151103,17158233,9573233,10593874,10581250,1757107,7541827,17132727,10089882,10941932,11327825,11069996,11711593,10779509,12083833,15719026,11602639,12191776,11804554,11704677,11799176,14592831,12218052,12218051,14585219,12707350,14739941,15778371,16148047,15613479,15572157,7688299,9621091,9637477,3086883,11352665,12787886,9123823,9036944,7522245,12033937,8986758,8411350,3261864,3260352,2559777,2541915,2482055,2479005,2461565,2453925,2402498,2198840,2103853,2078013,2018763,15585836,15215692,15113923,15113900,15018709,15014135,14990703,14576059,12963807,12960231,12953261,12873765,12871111,12857973,12845769,12832058,12713058,12634405,12614324,12502809,12429730,12429712,12402167,12368322,12163558,12120995,11967288,11931835,11884536,11877445,11876757,11861874,11752220,11504923,11489906,11413305,11397808,11356967,11333905,11287575,11265761,11264367,15737612,11086073,11024154,10875613,10738970,10590121,10582593,10559349,10482576,10446313,10430052,10393974,10371171,10364484,10329539,10074122,9770524,9721247,9696823,9658081,9653051,9632631,9614108,9601645,9600268,9499115,9499113,8849450,8805353,8629022,1918997,1971526,1931230,1551875,2187500,1977427,2107024,2190096,9658072,9264287,9037057,9000083,8995609,8973529,8827217,8760413,8663408,8627711,8627264,8615015,8568275,8551569,8497077,8460995,8455141,8417177,8363802,8212576,8139010,7935503,7769687,7692037,7690724,12719560,8906988,8627160,8437224,7904656,7904348,7693970,7678271,7515973,2251501,1374095,2006155,1896455,7906314,1970444,8661397,8178478,3259291,17180012,16855325,9186786,8575195,8356059,8168144,7914230,2846691,2543930,1356673,15308718,15279588,15183057,15168796,15090827,15016849,14659896,14585209,14557624,14505925,12768015,12719580,12646921,12646791,12597360,12584309,12502824,12487827,12477867,12208966,12134256,12072528,11734627,11533181,11413337,11413335,10558884,9862697,9739096,1724568,1722676,1720590,1717717,1710248,1703212,1702163,1690236,1588493,1543562,1382339,1376134,1280382,1279195,153,2842778,8464887,10758170,7874384,8419649,9043947,8125527,7506554,7903479,8738430,8105835,7906657,7897355,7589092,8369162,1888898,8474162,2364018,2363051,2341717,2335819,2325207,2261984,2243375,2212945,2190605,2182910,2171457,2125484,2115689,2111957,2082620,2078409,2078408,2076345,2059359,2045792,2040664,1991970,1983967,1979910,1978941,1970124,1967280,1967269,1959561,1931229,1889086,1871120,1870209,1832782,1736938,1727487,1727475,1720631,1717587,1713252,1711033,1702842,1698964,1698804,1696539,1693676,7687306,7686944,7685405,7615007,7594524,7562439,7546903,7545244,7544051,7543586,7533854,7529735,7529290,3652531,3497054,3495568,3484980,3466790,3304356,3038935,3027168,3023102,3018753,3006256,2990682,2986291,2986290,2833917,2821115,7690418,7689324,2462895,2446880,2441727,2438696,2437327,2436231,2432599,2431482,2431105,2324685,2136376,2068099,1685857,1614536,1599754,1569213,1567578,1563094,1549584,1512692,1503822,1500858,1493050,1472279,1465431,1438278,1388715,1381399,1378510,1373203,1354681,1352879,237459,2851650,1979339,1310988,2339113,8409933,1713692,8416385,8122371,2536098,2550679,12438611,8438588,8419650,7832633,2538547,15977243,15033690,14646564,11414813,11333908,10873786,10606089,9360974,8896248,8661396,8635586,8560759,8151301,7903106,7853478,7576930,7504739,2558687,2545918,2523711,2104682,1985202,1984054,1727497,1697332,1678778,1677023,1520872,10623764,10202115,9548463,9002959,8552983,2468713,8075984,2555159,2549633,2475780,16039896,12943795,11827520,7734186,2829023,2829022,2550671,2549987,2571187,2537355,1698911,1381201,17035237,16817962,16775320,16753228,16300985,16282475,16002156,15983047,15964018,15956589,15857992,15807900,15767436,15194768,15113926,14967033,14517611,14512572,12887918,2007979,1690832,1687500,1674549,1639820,1605591,16315040,2558637,2441877,16736946,16611063,15665647,11311058,10557278,8977179,8827218,8811198,8649438,8615021,7831801,7692087,7616571,7494500,3682024,2062847,1711118,1592430,1489581,1354808,16616288,16426633,16106369,15893666,15650196,15321703,14592765,12477840,8615032,8497074,8196669,7904351,3029227,2538505,2190604,12692222,12610158,12441808,12392548,11356961,11312658,11238869,11118070,10888615,10774549,10644351,10623731,9870313,9632396,9576954,9525683,9445013,9420225,8976200,8906796,8906795,8898753,8674119,17077296,17042973,16684552,16476977,16454711,16354571,16310238,16091223,15078178,14965316,12836198,12734410,9049297,17001685,11932428,11581379,10451539,17053352,16796521,16777164,9334377,9261346,9377118,10505674,9226175,9263011,8599832,16515489,16185162,15996703,15857997,15729334,15577644,15180541,15180540,15109676,15051887,15016894,12970437,12930892,12769725,8948487,8605026,11290759,8707350,15279589,15099523,16439540,16365153,14670336,11438519,8599214,10375525,15854903,7769669,7983750,9168885,8599229,11264384,8599760,7975260,10208934,8151774,8035515,7871751,7831289,8871625,11463741,8331733,8437228,8262036,8516299,15638726,7903128,7902127,3118220,1565858,15975620,15722538,15166428,15166429,15494497,16116206,11264386,7982906,9923610,11602785,9811611,9811606,9052838,11578695,8057354,11396948,12525647,10684310,15929700,16189514,10384144,11188697 920 AC125494,CH471116,DQ012936,NM_000616,M35160,U47924,X87579,AK315898,BC025782,BT019791,BT019811,DA463597,DB123455,M12807,S79267,U40625 NP_000607,EAW88738,EAW88739,AAY22175,AAA16069,AAB51309,CAA60883,BAF98789,AAH25782,AAV38594,AAV38614,AAA35572,AAB35273,AAB02789,P01730,Q13969,Q6LCP8,Q9UDE5,ABM82978,ABM86172 Hs.631659 GDB:119767 CD4mut cd4 antigen protein-coding 1604657 CD40 CD40 molecule, TNF receptor superfamily member 5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been found to be essential in mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 12223522,8605945,2475341,9468137,12761501,10748139,16893496,18446002,18287517,18253927,18217399,18159101,18064390,18037736,17999420,17989345,17967972,17949264,17925605,17904146,17805323,17786592,17721998,17678876,17599408,17553307,17534894,17459878,17446175,17376892,17344890,17319699,17255560,17237417,17237414,17202327,17199090,17154264,17043147,17026470,17012138,16964404,16936191,16901543,16864989,16806233,16756465,16644731,16504636,16494885,16429118,16357329,16356539,16356505,16341674,16279844,16260598,16246299,16221206,16213477,16149136,16142355,16127217,16091748,16033859,15994291,15883744,15817705,15808676,15795333,15753667,15708600,15690148,15670770,15634933,15578091,15489334,15375484,15367912,15340161,15339846,15331443,15307939,15301860,15291139,15290728,15272925,15187129,15153777,15113760,15102691,15078922,15069543,15001471,14991615,14976003,14764664,14747545,14742996,14699489,14695541,14687897,14665433,14651941,14644094,14633128,14617752,14612943,14611700,14568936,14557256,14517219,14515262,12905492,12893749,12874247,12857749,12855571,12829914,12810728,12799532,12778475,12764232,12686591,12676820,12672076,12637493,12626576,12624779,12604404,12593727,12584544,12576441,12576427,12510151,12507785,12488500,12477932,12460235,12437073,12433678,12356871,12324477,12220533,12209092,12209089,12207328,12165546,12149421,12122011,12093796,12089335,12070030,12070023,12039918,12011072,12005438,11997318,11981834,11891278,11877469,11876766,11870634,11867568,11830590,11830495,11826760,11817328,11792123,11780052,11751974,11751963,11714804,11714772,11676606,11675497,11562359,11268217,11172023,11160013,11129651,11042507,10984535,10764746,10741409,10647992,10601289,10600748,10514012,10411888,10395671,10092834,10075662,9990007,9933087,9718306,9671306,9642260,9624004,9605317,9511754,9432981,9373149,9144479,9133417,9050882,9037712,8790348,8562382,8125298,7687385,7544915,7543281,7538666,7533327,7530216,7527023,7522634,7518550,7516669,7516405,3487090,2998589,1701063,15749123,11087201,7541827,15611322,17353931,10847592,16189514,15184364,10352240 958 NM_001250,NM_152854,NG_007279,AL035662,AY504960,CH471077,CS095651,CS095653,CS097318,CS097320,CS097717,CS097719,CS103051,CS103053,EF064754,AB209660,AJ300189,AK222896,AY225405,BC012419,BC064518,BM761221,BT019901,CR605787,CR608994,CR619622 NP_001241,NP_690593,CAC17670,CAI42973,AAR84238,EAW75757,EAW75758,EAW75759,EAW75760,EAW75761,EAW75762,EAW75763,CAJ00027,CAJ00028,CAJ00033,CAJ00034,CAJ00124,CAJ00125,CAJ00728,CAJ00729,ABK41937,BAD92897,CAC29424,BAD96616,AAO43990,AAH12419,AAH64518,AAV38704,P25942,Q09LL4,Q59F01,Q6P2H9,ABM82730,ABM85914 Hs.472860 GDB:215268 Bp50|CDW40|MGC9013|TNFRSF5|p50 protein-coding 1352959 CD40LG CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome) The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. 1599480 9468137,17562816,17469136,17459878,17433826,17414714,17403203,17392362,17372166,17360404,17319699,17237447,17237414,17106168,17103120,16987056,16963006,16936191,16888032,16797372,16780932,16777115,16741250,16570157,16545138,16504636,16498500,8605945,12697681,9922218,7678552,16893496,12646674,18481160,18349125,18260168,18217399,18196935,18180380,18156495,18081708,18051214,17947713,17901373,17893433,17879023,17845713,17805323,17716773,17675236,17619839,16494885,16396693,16393964,16380494,16378074,16311023,16221206,16186418,16182391,16149136,16014560,15872081,15868137,15808676,15795254,15753667,15741223,15674425,15489334,15345520,15315967,15307939,15302794,15277394,15249506,15191945,15153777,15128830,15115688,15111558,15069543,15067037,14991615,14976003,14963650,14962968,14764664,14760083,14742996,14734771,14687897,14662879,14623801,14617752,14611725,12955358,12952351,12874247,12764232,12742991,12738634,12718765,12707303,12699408,12695287,12676191,12672403,12626576,12605316,12592374,12574344,12563087,12509450,12477932,12460235,12427285,12423681,12379582,12352896,12223522,12209602,12207328,12192302,12140747,12117990,12117904,12042657,12011072,11986259,11981870,11978801,11964311,11922919,11918631,11902332,11902141,11891278,11875495,11865444,11826760,11818376,11817328,11816717,11801691,11801648,11792121,11751888,11714772,11676606,11525169,11493450,11358428,11297035,11270473,11123305,11042507,10647992,10510350,9873085,9746782,9605317,9150729,8907262,8889581,8626375,8589998,8550833,8094231,7999797,7907793,7717401,7688562,7679801,7679206,7678782,7586644,7543281,7537298,7532185,7516405,1427881,1385114,1281209,1280226,14764743,12960257,7541827,16429138,10085035 1599480 959 NM_000074,NG_007280,AL135783,CH471150,CQ859998,D31797,DQ119668,EF064753,AF529195,AK292637,AY197739,BC071754,BC074950,L07414,X67878,X68550,Z15017 NP_000065,CAI42901,CAI42902,EAW88462,EAW88463,CAH25976,BAA06599,AAZ23548,ABK41936,AAQ09090,BAF85326,AAP37943,AAH71754,AAH74950,AAA35662,CAA48077,CAA48554,CAA78737,P29965,Q3L8U2,Q3LFI8,Q45QX2 Hs.592244 GDB:120632 CD154|CD40L|HIGM1|IGM|IMD3|T-BAM|TNFSF5|TRAP|gp39|hCD40L protein-coding 737036 CD44 CD44 molecule (Indian blood group) The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. 2289349,2289353,2289371,2289388,2289345,2289347,2289350,2289351,2289352,2289356,2289357,2289358,2289361,2289362,2289364,2289369,2289372,2289373,2289346,2289354,2289359,2289360,2289363,2289370 2471973,1991450,1922057,8640758,18372518,18214619,18199543,18193058,18162778,18155656,18094716,18092951,18077444,18064740,18005092,17987038,17975002,17945213,17945212,17940137,17911438,17849363,17846873,17726647,17708612,17702746,17679465,17657222,17638891,17627000,17611662,17611661,17599831,17589956,17581168,17579117,17540049,17516109,17482182,17479111,17464868,17392272,17383158,17343740,17332338,17265493,17237445,17136494,17135256,17092940,17085435,17081983,16998484,16998483,16969488,16868940,16809345,16713680,16702221,16652145,16636662,16620830,16565092,16565089,16554035,16533775,16530165,16504370,16478744,16419149,16415175,16407205,16390331,16354706,16352650,16335952,16325770,16234326,16229685,16219515,16208414,16177123,16166750,16085055,16002044,15990174,15962382,15943035,15923644,15867228,15816636,15809746,15783086,15736104,15728517,15652352,15645378,15641486,15638386,15638368,15578568,15558018,15531362,15516973,15509527,15489334,15361838,15313120,15292257,15239258,15123640,15070674,15060082,15051494,15048167,15040016,15023889,15017146,15013310,15009704,14992719,14981907,14702039,14669354,14644158,14623895,14614016,14534719,14534711,14525786,14504094,12949055,12939665,12928429,12911725,12909589,12908752,12901833,12893366,12883358,12842543,12826680,12820426,12801931,12779084,12767055,12748184,12730955,12727228,12714503,12711360,12702150,12650924,12635659,12629514,12574156,12511867,12511569,12508241,12506143,12485845,12479099,12477932,12452061,12444143,12439723,12421945,12411303,12407110,12393872,12392323,12377945,12371152,12370738,12356905,12297287,12235127,12226094,12223485,12198147,12183053,12168806,12145287,12145196,12127836,12093135,12090473,12032545,12010794,11935029,11840273,11839564,11825898,11825873,11792412,11759056,11740562,11727257,11716065,11606575,11466334,11463356,11402070,11381077,11129651,11095749,11084024,10950950,10933060,10737800,10657301,10652271,10636882,9794764,9580567,9573028,9472040,9334256,9058761,8986622,8871928,8858161,8649806,8636151,8599448,8576267,8352881,8343954,8148709,7908632,7699015,7591309,7557500,7542116,7539755,7532176,7529574,7516819,7508842,7505012,7499241,2474557,2466576,2466575,2454887,2056274,2007624,1840487,1734871,1730778,1717145,1694723,1537855,1496383,1465456,1281868,16189514,15688033 2289349,2289353,2289371,2289388,2289345,2289347,2289350,2289351,2289352,2289356,2289357,2289358,2289361,2289362,2289364,2289369,2289372,2289373,2289346,2289354,2289359,2289360,2289363,2289370 960 NM_001001389,NM_001001390,NM_001001391,NM_001001392,AL133330,AL136989,AL356215,CH471064,NM_000610,L05423,L05424,S72928,S78367,AB073901,AF086543,AF098641,AJ251595,AK123567,AK127622,AK129808,AK290424,AL832642,AY101192,AY101193,BC004372,BC052287,BC067348,BF828674,BF872530,BG946113,CD721908,CR596847,CR611618,CR621045,CR623874,EF581837,M24915,M25078,M59040,M83325,M83326,M83327,M83328,S66400,S82326,U40373,W47313,X55150,X55938,X56794,X62739,X66733 NP_000601,NP_001001389,NP_001001390,NP_001001391,NP_001001392,CAC10345,CAC10346,CAC10347,CAC10348,CAC10349,EAW68144,EAW68145,EAW68146,EAW68147,EAW68148,EAW68149,EAW68150,EAW68151,EAW68152,EAW68153,EAW68154,EAW68155,AAB13622,AAB13623,AAB13624,AAB13625,AAB13626,AAB13627,AAB13628,AAB30429,AAD14279,AAC70782,CAB61878,BAF83113,CAD89965,AAM50040,AAM50041,AAH04372,AAH52287,AAH67348,ABQ59315,AAA35674,AAA36138,AAA51950,AAB27917,AAB27918,AAB27919,AAD14389,AAA82949,CAA38951,CAA39404,CAA40133,CAA44602,CAA47271,O95370,P16070,Q86UZ1,Q99900,Q9H5A3,Q9H5A4,Q9H5A5,Q9H5A6,Q9H5A7,Q9P2Z2,Q9UC28,Q9UC29,Q9UC30 Hs.502328 GDB:120739 CDW44|CSPG8|ECMR-III|HCELL|IN|LHR|MC56|MDU2|MDU3|MGC10468|MIC4|MUTCH-I|Pgp1 cd44 antigen protein-coding 1346662 CD46 CD46 molecule, complement regulatory protein The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. This gene is found in a cluster on chromosome 1q32 with other genes encoding structural components of the complement system. At least fourteen different transcript variants encoding fourteen different isoforms have been found for this gene. 1580863 8402913,1711570,17947513,17914026,17715217,17617869,17599974,17560639,17467801,17412968,17261436,17116876,17015676,16888016,16735514,16710414,16690929,16621965,16386793,16344560,16254377,12055245,12050388,11983016,11971006,11901164,11858824,11844145,11739493,11714708,11260136,10972291,10843656,10751138,10741407,10657632,10619434,10357804,9759896,9661662,9659228,9551389,9379894,9373149,9185079,8764003,8418811,8371352,8125298,8026516,7929741,7884872,7708671,7691939,7534417,3260937,2521358,2298462,2050389,1953714,1717583,1601037,16189514,12055630,16087667,15919905,15845515,15845255,15808690,15784724,15592455,15489334,15385816,15378282,15336534,15308701,15307194,15307176,15151618,15121049,15078926,15047806,14962294,14962279,14712499,14708531,14615110,14597734,14566335,14566051,12958316,12915534,12869763,12724329,12663806,12540904,12477932,12171934,12112588,12082081,16253969 4179 NM_172359,NM_172354,NM_172360,NM_172351,NM_153826,NM_172358,NM_172355,NM_172356,NM_172352,NM_172353,NM_172350,NM_172357,NM_172361,AL035209,AL365178,AY916779,CH471100,NM_002389,S65879,AF209712,AF209713,AF209714,AK129560,AK222822,AK291227,AU131238,BC007046,BC026273,BC030594,BX537451,BX640613,BX649050,CR604185,CR616292,D84105,EF076055,EF076056,EF076057,EF076058,M58050,S51940,X59405,X59406,X59407,X59408,X59409,X59410,Y00651,Y07713,A18585 NP_002380,NP_758869,NP_758864,NP_758870,NP_758861,NP_722548,NP_758868,NP_758865,NP_758866,NP_758862,NP_758863,NP_758860,NP_758867,NP_758871,AAW82433,EAW93463,EAW93464,EAW93465,EAW93466,EAW93467,EAW93468,EAW93469,EAW93470,EAW93471,EAW93472,EAW93473,EAW93474,EAW93475,EAW93476,EAW93477,AAD13968,AAF73844,AAF73845,AAF73846,BAD96542,BAF83916,AAH30594,CAD97694,CAE45719,CAI45983,BAA12224,ABK81635,ABK81636,ABK81637,ABK81638,AAA62833,AAB24802,CAA68675,CAA68985,P15529,Q06C42,Q92494,CAA01400,ABM81827,ABM84980 Hs.510402 GDB:120169 MCP|MGC26544|MIC10|TLX|TRA2.10 membrane cofactor protein (cd46, trophoblast-lymphocyte cross-reactive antigen) protein-coding 737350 CD47 CD47 molecule This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 15383453,8294396,7998989,16691243,10429193,18332220,17572512,17363705,17360380,17098740,16951312,16697668,16581280,16291597,15917238,15880429,15842360,15725479,15498560,15292185,14966135,14759258,14747477,14702039,14551146,12902472,12736272,12690108,12646616,12609828,12477932,12393467,12393442,12370491,12351399,12218055,12176912,11980922,11907074,11509594,11454874,11331301,11306274,10549293,10545994,10397731,10037797,15489334,15359629,9872987,9169439,8563755,8550562,7691831,2277087,1394148,16189514,15700281 961 NM_198793,NM_001025079,NM_001777,AC012020,AF540016,CH471052,AI701980,AK096670,AK124152,AK289813,AL832675,BC010016,BC012884,BC037306,BC042889,BC045593,BC053959,BI753986,BT006907,BX640889,CB995865,CR591693,CR591788,CR592842,CR601569,CR615658,CR621937,CR623329,CR624381,X69398,Z25521 NP_942088,NP_001020250,NP_001768,AAQ11189,EAW79732,EAW79733,EAW79734,BAF82502,AAH10016,AAH12884,AAH37306,AAP35553,CAA49196,CAA80977,Q08722,Q71A41,ABM81682,ABM82737,ABM84846 Hs.446414 GDB:250714 IAP|MER6|OA3 integrin-associated protein protein-coding 1352782 CD48 CD48 molecule 1580863 12356317,2828034,1693656,11313396,17599905,17222190,16866884,16803907,16785501,16710414,16585556,16081768,15760905,15489334,15356144,12496412,12477932,12072193,12007789,11313125,11163399,10359122,9834056,9418191,9373149,8650218,8125298,8104794,1999351,1999350,1847502,1827826,16189514 962 NM_001778,AL121985,CH471121,M63911,AK225636,BC016182,BC030224,BT019813,CR457012,M37766,M59904,X06341 NP_001769,CAC00578,CAH73506,EAW52705,AAA35602,AAH16182,AAH30224,AAV38616,CAG33293,AAA36211,AAA62834,CAA29647,P09326,Q5U055,Q6IAZ2,Q8MGR0,ABM87315,ABW03873 Hs.243564 GDB:119725 BCM1|BLAST|BLAST1|MEM-102|SLAMF2|hCD48|mCD48 cd48 antigen (b-cell membrane protein) protein-coding 736702 CD5 CD5 molecule 1580863 1711157,3093892,11390434,18339402,18006695,17878328,17585360,17513730,17325858,16923582,16344560,16107871,15998834,15981803,15843554,15549146,15489334,15187131,15144186,14603444,12707340,12522270,12477932,12473675,12447961,12393419,11869933,11861604,11751967,11298344,11123317,10510361,10082557,9862202,9834084,9692886,9603468,9378960,9079809,8806810,7539755,7513045,7512031,1385158 921 NM_014207,AP000437,CH471076,X89405,AK292698,AY541703,BC027901,DB143341,X04391 NP_055022,EAW73924,CAA61584,BAF85387,AAS55053,AAH27901,CAA27979,P06127,Q6QHB8,ABM83003,ABM86196 Hs.58685 GDB:120579 LEU1|T1 cd5 antigen protein-coding 1348187 CD52 CD52 molecule 8223854,1711975,17624925,17428002,17145843,16797237,16796779,16266689,15489334,14662784,12477932,12113063,11860230,11257744,10561018,10524207,9361796,8977262,8418821,8418812,8366859,7890742,7718516,7688956,7685389,1352921,6186 1043 NM_001803,AJ132359,AL451139,CH471059,BC000644,BI835519,BT007116,CR456874,CR607239,CR616675,X62466,X67699,A23013 NP_001794,CAB51285,CAI15846,EAX07822,AAH00644,AAP35780,CAG33155,CAA44323,CAA47929,P31358,Q5T138,Q6IBD0,Q9UJ81,CAA01644,ABM84634 Hs.276770 GDB:128729 CDW52 cd52 antigen (campath-1 antigen) protein-coding 737207 CD53 CD53 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863 8404042,8436422,8452817,17210617,16710414,16506060,15489334,12725440,12631118,12606948,12477932,12392323,11959120,11739647,11443129,11157846,10529602,10229664,9862348,9470900,8816400,8757325,8335905,8319976,8307585,7963560,7621882,7539755,2258620,1879540,1700763,1346273 963 NM_001040033,NM_000560,AJ243474,AL354713,AL391064,CH471122,L11670,L11671,BC035456,BC040693,BG536920,BT019643,CA453414,CR592401,CR598355,CR605120,CR609698,CR614019,CR619551,CR620545,M37033,M60871 NP_001035122,NP_000551,CAH73292,EAW56459,AAH40693,AAV38449,AAA35663,AAA51951,P19397 Hs.443057 GDB:127521 MOX44|TSPAN25 cd53 antigen protein-coding 737499 CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) This gene encodes a protein involved in the regulation of the complement cascade. The encoded glycoprotein is also known as the decay-accelerating factor (DAF); binding of DAF to complement proteins accelerates their decay, disrupting the cascade and preventing damage to host cells. Antigens present on the DAF glycoprotein constitute the Cromer blood group system (CROM). Two alternatively spliced transcripts encoding different proteins have been identified. The predominant transcript encodes a membrane-bound protein expressed on cells exposed to plasma component proteins but an alternatively spliced transcript produces a soluble protein present at much lower levels. Additional, alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 8223854,2433596,11313396,18374870,18165780,17893077,17449467,17395591,17368771,17182573,17167176,16980062,16951684,16908271,16818763,16647457,16626483,16602701,16543227,16533428,16503113,16367924,16273233,16179371,16079188,15919505,15831949,15808692,15808686,15808683,15808680,15721309,15596863,15536079,15489334,15385816,15356143,15351205,15350460,15284224,15151618,15102803,15102687,15007307,15007304,14993659,14962294,14734808,14722298,14530374,14517339,12950987,12920584,12880676,12811528,12731067,12675719,12672958,12664211,12659837,12654791,12645951,12499389,12477932,12445304,12393518,12386146,12186929,12153048,12119400,12117960,11983016,11832343,11745332,11694537,10540231,9541601,9435343,9427725,9238658,9110174,9010927,8619474,7687624,7678074,7673728,7545711,7525274,7519480,7512501,2459267,2438369,2436222,2428813,1824699,1740338,1720702,1712233,1711208,1385527,1377029,1376264,8887350,7535292,16189514,15327779 1604 NM_000574,NM_001114752,NG_007465,AB003312,AL391597,AL596218,AY851161,CH471100,M64653,S72858,AB240566,AB240567,AB240568,AB240569,AB240570,AF052110,AY055757,AY055758,AY055759,AY055760,BC001288,BI545505,BT007159,CA432400,CA748776,CR596368,CR596647,CR600235,CR603699,CR611789,CR613044,CR623902,CR624858,DC386415,M15799,M30142,M31516,U88576 NP_000565,NP_001108224,BAA22900,CAH72945,CAH72946,CAH72947,CAH72948,AAW29942,EAW93485,EAW93486,EAW93487,EAW93488,EAW93489,EAW93490,EAW93491,EAW93492,EAW93493,EAW93494,EAW93495,EAW93496,EAW93497,EAW93498,EAW93499,AAA52170,AAC60633,BAE97422,BAE97423,BAE97424,BAE97425,BAE97426,AAL25832,AAL25833,AAL25834,AAL25835,AAH01288,AAP35823,AAA52167,AAA52168,AAA52169,AAB48622,P08174,Q14UF2,Q14UF3,Q14UF4,Q14UF5,Q14UF6,Q5VW88,Q5VW89,Q5VW90,Q5VW91,Q76N74,Q8TD11,Q8TD12,Q8TD13,Q8TD14,ABM81702,ABM84861 Hs.527653 GDB:119088 CR|DAF|TC decay-accelarating factor protein-coding 1351887 CD57 CD57 antigen 964 GDB:119363 1343400 CD58 CD58 molecule 1580863 7544493,17168569,17085486,16830383,16602701,15963548,15093607,14759258,12798307,12553064,12496412,12477932,11575926,11051456,10380930,10220497,10200255,10099837,9574540,9510189,9350325,7545392,7515920,3313052,3309127,1377404,1757107,7589092,12853962,16189514 965 NM_001779,AL355794,AL390066,CH471122,CS278854,Y14780,AK291980,BC005930,BT019816,BT019817,CR456939,D28586,S79616,X06296,Y00636 NP_001770,EAW56652,EAW56653,EAW56654,EAW56655,EAW56656,CAJ86521,CAA75083,CAA75084,BAF84669,AAH05930,AAV38619,AAV38620,CAG33220,BAA05922,AAB40000,CAA29622,CAA68668,P19256,Q14748,Q16393,Q5T325,Q5U053,Q6IB65,Q9BRW0 Hs.34341 GDB:120580 LFA-3|LFA3 cd58 antigen, (lymphocyte function-associated antigen 3) protein-coding 736600 CD59 CD59 molecule, complement regulatory protein This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. 1600478,1600479,1600482,1600483,1600485,1600486,1600487,1600493,1600494,1600495,1580863,1600500 12577067,1381503,7691713,17671359,17644516,17635812,17585877,17505110,17412968,16908271,16859540,16844690,16602701,16493049,16344560,16341674,16179371,16032396,15543155,15489334,15448097,15389819,15351205,15231748,15151618,15147772,14962294,14702039,14635045,14517339,12880676,12646570,12645951,12553064,12477932,12219031,11477359,11095009,10805801,10708443,10341291,9444417,9358772,9238658,9235986,9054419,9053451,8995588,8969267,8889548,8876826,8798614,8789559,8670172,8650218,8526992,8276756,7686996,7683594,7673728,7553895,7544344,7530684,7523406,7520819,7515200,7512825,7505007,2606909,2476718,2475570,2475111,2302178,1702747,1699124,1692709,1689664,1383553,1383132,1382994,1377690,1377404,1376264,1372592,10786997,8887350,9263011,7539755,16189514 1600478,1600479,1600482,1600483,1600485,1600486,1600487,1600493,1600494,1600495,1600500 966 NM_000611,NM_203331,NM_203330,NM_203329,NM_001127223,NM_001127225,NM_001127226,NM_001127227,AL049629,CH471064,M84349,Z14113,AI147924,AK128571,AK309894,AK311778,AL037045,AL049957,AL080087,AL703204,AU136899,AU139009,AU139541,AW166662,BC001506,BC033226,BE899630,BG284181,BI752924,BM457931,BM551313,BM680161,BM724931,BM829941,BM911556,BQ230563,BQ440441,BT007104,BU154979,BX475103,CF529941,CR407661,CR541722,CR590164,CR590309,CR591013,CR592290,CR593295,CR593402,CR594142,CR596803,CR598236,CR598573,CR599369,CR599746,CR599940,CR601338,CR603102,CR603898,CR604104,CR604815,CR606593,CR607196,CR607476,CR608201,CR608941,CR608995,CR610314,CR610371,CR610476,CR610753,CR612934,CR612938,CR612964,CR613325,CR614737,CR615105,CR616543,CR616585,CR617737,CR618936,CR619280,CR619669,CR620800,CR622235,CR624551,CR625449,CR625833,CR625964,CR626546,DA250543,DA578905,DA840870,DA917093,M27909,M34671,M95708,X16447,X17198,X84805 NP_000602,NP_976076,NP_976075,NP_976074,NP_001120695,NP_001120697,NP_001120698,NP_001120699,EAW68192,EAW68193,AAA88793,CAA78486,BAG34721,AAH01506,AAP35768,CAG28589,CAG46523,AAA60543,AAA51952,AAA60957,CAA34467,CAA35059,P13987,Q6FHM9,ABM92257,ABM84744,ABW03275 Hs.278573,Hs.710641 GDB:119769 16.3A5|1F5|EJ16|EJ30|EL32|FLJ38134|FLJ92039|G344|HRF-20|HRF20|MAC-IP|MACIF|MEM43|MGC2354|MIC11|MIN1|MIN2|MIN3|MIRL|MSK21|p18-20 cd59 antigen protein-coding 1318347 CD5L CD5 molecule-like 1580863 9045627,14718574,16710414,16344560,16030018,15489334,15340161,12975309,12477932,11981870,8034987 922 NM_005894,AL139409,CH471121,AF011429,AF147312,AK292040,AY358494,BC033586,DA957550,U82812 NP_005885,CAC19458,EAW52859,AAD01446,BAF84729,AAQ88858,AAH33586,AAB91989,O43866,ABM84541,ABM86224 Hs.134035 GDB:9837026 AIM|API6|PRO229|SP-ALPHA|Spalpha cd5 antigen-like (scavenger receptor cysteine rich family) protein-coding 1351600 CD6 CD6 molecule CD6 is a monomeric 105- or 130-kD membrane glycoprotein that is involved in T-cell activation. The size difference between the 2 CD6 forms is due to differences in phosphorylation (Robinson et al., 1995 [PubMed 7589069]).[supplied by OMIM] 1580863 12493773,1919444,17601777,17371992,16914752,16818773,16818742,16034076,12477932,12473675,9436462,9394826,9013954,7678115,7589069,7543097,3923629,2016320 923 NM_006725,AP003721,CH471076,L78838,U34623,U34625,U66143,U66144,AK128419,AK292704,BC033755,BC078669,DQ786329,DQ786330,U66142,U66145,U66146,X60992 NP_006716,EAW73917,EAW73918,EAW73919,EAW73920,EAW73921,EAW73922,EAW73923,AAL40085,AAL40086,AAL40087,AAL40088,AAL40089,AAA86417,AAA86419,AAC51162,AAC51163,BAF85393,AAH33755,AAH78669,ABH04237,ABH04238,AAC51161,AAC51164,AAC51165,CAA43306,P30203,Q6AZ88,Q8N4Q7,Q8WWJ3,Q8WWJ4,Q8WWJ5,Q8WWJ6,Q8WWJ7 Hs.706760 GDB:5875380 TP120 protein-coding 735587 CD63 CD63 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. The use of alternate polyadenylation sites has been found for this gene. Alternative splicing results in multiple transcript variants encoding different proteins. 1580863 1993697,8661157,9602068,18321974,18211905,17827389,17624082,17522207,17390088,17350713,17279322,17275019,16918509,16917503,16908530,16683915,16410552,15711748,15528334,15489334,15375577,15229288,15146197,15130945,14660791,12974720,12871315,12826159,12755696,12754519,12610138,12579280,12480921,12477932,12230470,12175627,12036870,11907283,11752456,11739647,11328596,11278880,11204565,11113129,10529602,10436028,10405235,10229664,9822308,9759843,9360996,9360995,9111230,9006891,8871662,8757325,8630057,7682577,7629079,4062294,3365686,2516848,2171551,1879540,1599482,1339263 967 NM_001040034,AC009779,CH471054,D00874,X62654,AF508304,AV650763,BC002349,BC013017,BT007073,BT020137,BT020138,CN296834,CR542096,CR593138,CR596146,CR596402,CR598829,CR600108,CR601904,CR602841,NM_001780,CR604098,CR604975,CR606636,CR609892,CR612079,CR615604,CR617106,CR620394,CR620480,CR623622,CR624383,CR625184,M58485,M59907,S93788,X07982 NP_001771,NP_001035123,EAW96827,EAW96828,EAW96829,CAA44519,AAM34259,AAH02349,AAH13017,AAP35736,AAV38939,AAV38940,CAG46893,AAA63235,AAB21617,CAA30792,P08962,Q5TZP3,Q8N6Z9,Q9UCG6,ABM82174,ABM85359 Hs.445570 GDB:120186 LAMP-3|ME491|MLA1|OMA81H|TSPAN30 cd63 antigen protein-coding 1314316 CD68 CD68 molecule This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. 1580863 7680921,18316565,17583472,17052752,16888915,16344560,16263699,15638380,15489334,15214825,12676954,12572894,12477932,12429719,12397372,10985244,9790779,9373149,8639768,8125298 968 AC016876,AF060540,CH471108,AK222492,AK222514,AK290238,AW294871,BC015557,BT009923,BX438711,BX647524,CR598533,CR606850,CR623004,DB187273,S57235,NM_001251,NM_001040059 NP_001035148,AAC70006,EAW90165,BAD96212,BAD96234,BAF82927,AAH15557,AAP88925,AAB25811,P34810,Q53HR6,Q53XI3,ABM92248,ABM84727,NP_001242 Hs.647419 GDB:138475 DKFZp686M18236|GP110|SCARD1 cd68 antigen protein-coding 1351395 CD69 CD69 molecule The activation of T lymphocytes, both in vivo and in vitro, induces expression of CD69. This molecule, which appears to be the earliest inducible cell surface glycoprotein acquired during lymphoid activation, is involved in lymphocyte proliferation and functions as a signal-transmitting receptor in lymphocytes, natural killer (NK) cells, and platelets (Cambiaggi et al., 1992 [PubMed 1612643]).[supplied by OMIM] 1580863 8340758,17693977,17541278,17237603,16788832,16525420,16396693,15893733,15489334,14728878,12865808,12718936,12626587,12580810,12548561,12540017,12477932,12423306,12398872,12234263,12210415,12077230,11994706,11895929,11101293,11036086,10480634,10441371,8496594,8100776,8026529,7887967,7665567,1612643,8528739,16103171,11438519,9049297,16189514 969 NM_001781,AC007068,CH471094,Z30426,Z38109,AK291869,AY238518,BC007037,L07555,Z22576 NP_001772,EAW96122,EAW96123,CAA83017,CAA86225,BAF84558,AAO63584,AAH07037,AAB46359,CAA80298,Q07108,Q53ZX0,Q6LAB3,ABM84101,ABM87473 Hs.208854 GDB:132925 CLEC2C cd69 antigen (p60, early t-cell activation antigen) protein-coding 1320672 CD7 CD7 molecule This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. 1580863 11485208,3501369,1695199,3258561,17959857,17287851,16837044,16990185,16332967,15489334,12594831,12477932,12393702,11423532,10652336,10490978,9852078,9480746,9373149,8918688,8871597,8666891,8662072,8125298,2479685,1711009,1703303 924 AY935537,BC009293,BC013297,BI838777,BI906419,BM917451,BT006696,CR608715,X06180,NM_006137,AC132872,CH471099,D00749,M37271,AK223465,AY935534,AY935535,AY935536 AAY15456,AAY15457,AAH09293,AAH13297,AAP35342,CAA29546,P09564,Q29VG2,Q29VG3,Q29VG4,Q29VG5,Q53F24,ABM81666,ABM83516,ABM84837,ABM86736,NP_006128,EAW89763,EAW89764,EAW89765,BAA00646,AAA51953,BAD97185,AAY15454,AAY15455 Hs.36972 GDB:119770 GP40|LEU-9|TP41|Tp40 cd7 antigen (p41) protein-coding 1351721 CD70 CD70 molecule The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. 1580863 8120384,8387892,9177220,11920585,18256142,17615291,17548342,17132225,16892042,16751420,15723067,15489334,15188362,15153937,15128787,12926832,12477932,12197885,12100033,12031769,12009595,11980654,11728341,10800994,9862673,9767422,9366422,8690463,8580829,8186199,8120385,7706711,7479974,2163351 970 NM_001252,AC008760,CH471139,EF064709,BC000725,BT007211,CR626341,L08096,S69339 NP_001243,EAW69074,EAW69075,ABK41892,AAH00725,AAP35875,AAA36175,AAB30121,P32970,Q53XX4 Hs.501497 GDB:139157 CD27L|CD27LG|TNFSF7 tumor necrosis factor (ligand) superfamily, member 7 protein-coding 1320264 CD72 CD72 molecule 1580863 1711157,18071878,17121583,16047337,15588985,15489334,15459183,12882840,12477932,11466342,11114375,10820378,9740800,9590210,9110174,8806810,2141045,2044654,16189514 971 AB180952,AB180953,AB180954,AB180955,AB180956,AB180957,AB180958,AB180959,AL357874,CH471071,EF064751,NM_001782,AB209587,AF283777,BC011734,BC030227,CR589985,DQ174771,M54992 NP_001773,BAD72857,BAD72858,BAD72859,BAD72860,BAD72861,BAD72862,BAD72863,BAD72864,CAI13442,CAI13444,CAI13445,EAW58372,EAW58373,ABK41934,BAD92824,AAH30227,ABA55068,AAA36189,P21854,Q0H7P2,Q59F74,Q5T4Q7,Q5T4Q8,Q5TLF7,Q5TLF8,Q5TLF9,Q5TLG0,Q5TLG3 Hs.116481 GDB:128153 CD72b|LYB2 cd72 antigen protein-coding 1350471 CD74 CD74 molecule, major histocompatibility complex, class II invariant chain 1580863 10981873,12782713,6324166,18178838,17959659,17567581,17142775,16678175,16618111,16542748,16428763,16107560,15972644,15845476,15688398,15489334,15475450,12477932,12058053,11927549,11897800,11754812,10748235,10022822,9843486,9752000,8574855,8397411,8343954,8316295,7519244,7477400,6982931,6955026,6586420,6576808,3866610,3459184,3132422,3036998,3001652,2507633,2391366,2121367,1448172,16454711,16365153,16439540,15194762,12970439,11593029 972 NM_004355,NM_001025159,AC011372,AC011388,CH471062,M13560,X03339,X03340,AK292076,NM_001025158,BC018726,BC024272,BF796148,BT019505,CR590167,CR594737,CR595353,CR596915,CR601246,CR604165,CR608107,CR608306,CR615386,CR616774,CR619151,CR621213,CR621994,CR622356,CR625117,K01144,M28588,M28590,X00497 NP_001020329,NP_004346,NP_001020330,EAW61727,EAW61728,EAW61729,EAW61730,EAW61731,AAA36033,CAA27046,CAA27047,BAF84765,AAH18726,AAH24272,AAV38312,AAA36304,AAA58655,AAA35996,CAA25192,CAA25193,O19685,O78208,P04233,Q8SNA0,Q9TNQ4,Q9TNQ6,ABM82931,ABM86120 Hs.436568 GDB:119846 DHLAG|HLADG|Ia-GAMMA|protein 41 cd74 antigen (invariant polypeptide of major histocompatibility complex, class ii antigen-associated) protein-coding 1346600 CD79A CD79a molecule, immunoglobulin-associated alpha The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 17701175,17374736,17350472,16271957,15591116,15492262,12651942,12477932,12403343,12186846,11909947,11907094,11449366,10748115,10540352,10438530,9561918,9531288,9418137,9373149,9120258,9110174,8747711,8666916,8656670,8207205,8144961,8125298,8077654,7989333,7927516,7916003,7643857,7592958,7539038,7516335,7514267,7512031,7500027,2463161,1940346,1881434,1729378,1639443,1591006,1569106,1538135,1534761,1446073,1395095,1292512,12886015,14499622,8683109,9183005,6196366 973 S79248,X13451,X83540,NM_001783,NM_021601,AC010616,CH471126,L32754,U05259,AK223371,BC113731,BC113733,CR592648,CR600210,CR611564,CR617518,CR623680,CR625799,M74721,M80462,M86921,S46706,S75217 AAC60653,CAA31802,CAA58523,P11912,NP_001774,NP_067612,EAW57075,EAW57076,AAA57274,AAA20495,BAD97091,AAI13732,AAI13734,AAA60270,AAA59556,AAA59557,AAB23558,AAB20812 Hs.631567 GDB:133778 IGA|MB-1 protein-coding 730908 CD79B CD79b molecule, immunoglobulin-associated beta The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. 633033,1580863 8486355,17709424,17701175,17374736,17315213,16847312,15661909,15489334,12651942,12477932,12453414,12393534,12384401,11907094,11389892,9545642,9531288,9521881,9418137,9373149,9120258,8747711,8656670,8555489,8419481,8125298,8077654,7913081,7643857,7592958,7541024,7539038,7538118,7516335,7514267,7512031,1591006,1534761,10808179,12482395,12886015 633033 974 NM_001039933,NM_021602,NM_000626,NG_007368,AC127029,AF019557,CH471109,L27587,U22954,X83538,AK222954,AK223210,BC002975,BC030210,BC032651,CR591997,CR592092,CR599571,CR606875,CR617922,CR618467,CR623737,M80461,M89957,S52229,S79249,X83539 NP_001035022,NP_067613,NP_000617,EAW94227,EAW94228,EAW94229,EAW94230,EAW94231,EAW94232,AAA72424,AAA98831,BAD96674,BAD96930,AAH02975,AAH30210,AAH32651,AAA58387,AAA64459,AAB24822,AAC60654,CAA58522,P40259,Q6PIS4 Hs.89575 GDB:133786 B29|IGB protein-coding 737082 CD80 CD80 molecule The B-lymphocyte activation antigen B7-1 (formerly referred to as B7) provides regulatory signals for T lymphocytes as a consequence of binding to the CD28 (MIM 186760) and CTLA4 (MIM 123890) ligands of T cells.[supplied by OMIM] 1580863 9915850,1370389,18026115,17989345,17977894,17953528,17925605,17524139,17323353,17309825,17201120,16690948,16621031,16521215,16237760,16237059,16002699,15942292,15628695,15598660,15489334,15377288,15342556,15272203,15254772,15254713,15201958,15163715,15110532,15063762,15034022,14978077,14975605,14871408,14692664,14530356,12905492,12878356,12860928,12829919,12829914,12800259,12798307,12606712,12569387,12513711,12477932,12444120,12372936,12355442,12352894,12149421,12100477,12097397,12067755,12015893,11936473,11830501,11826754,11751963,11741888,11726649,11279502,11222911,11196673,11169444,11168574,11168518,11137584,11123305,11045378,10807504,10661405,9286703,9282998,9250865,8814244,8361751,7545666,7527824,7499425,2794510,1714935,1377173,8086129,7541827,17077296,16454711,16272310,16177101,7589092,15956545,15611322,15610849 941 AC073352,CH471052,M83077,U72535,AK292129,AY081815,AY197777,AY197778,BC042665,BP225173,M27533,NM_005191 NP_005182,EAW79564,EAW79565,AAA58390,AAC51754,BAF84818,AAL89819,AAO39208,AAO39209,AAH42665,AAA36045,P33681,Q5DTA9,Q5DTB0,Q6LCB7 Hs.838 GDB:251792 CD28LG|CD28LG1|LAB7 cd80 antigen protein-coding 731700 CD81 CD81 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. 734728 17194487,17166843,17079294,17079281,17015697,16912317,16735696,16641285,16352525,16339892,16289162,16169070,15956553,15767432,15670777,15500552,15489334,15294858,15280458,15123813,14966136,14728804,14722300,14607925,12970454,12913001,12645944,12597781,12519228,12492902,12483205,12477932,12471100,12437138,12421929,12368358,14676841,1695320,18355410,18337570,17942559,17941058,17827389,17784784,17522207,17507469,17457918,17407154,17329343,12210407,12209363,12036870,11781364,11781363,11739647,11673522,11504738,11278880,11226150,11087758,10459022,10229664,9794763,9403053,9360996,9360995,8816400,8630057,8168850,8039242,7690834,2398277,1860863,1650385,1383329,16940516,16735575,16682056,16533950,16189514,9006891,10846074,12604806,11080483,12522210,10729140,15136562 734728 975 AC124057,AC129929,CH471158,EF064749,AB209380,BC002978,BC093047,BG397506,BQ709484,BT019507,BT019508,CB055265,CR593787,CR595315,CR597052,CR597764,CR597813,CR598183,CR598692,CR599310,CR601869,CR604204,CR604277,CR604916,CR605197,CR608902,CR616730,NM_004356,CR617842,CR618893,CR621738,CR622188,CR625241,M33680 NP_004347,EAX02507,EAX02508,ABK41932,BAD92617,AAH02978,AAH93047,AAV38314,AAV38315,AAA36663,P60033,Q59FS9,ABM82762,ABM82775,ABM85948 Hs.54457 GDB:135038 S5.7|TAPA1|TSPAN28 cd 81 antigen protein-coding 1604068 CD82 CD82 molecule This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 2289398,2289401,2289404,2289406,2289422,68869,2289425,2289399,2289403,2289405,2289390,2289391,2289400,2289402,2289407 15205336,1842498,7754374,18272501,18037895,18028322,17982617,17621632,17560548,17215249,17200188,17166843,16861889,16488391,16325219,15996322,15677461,15592684,15557282,15454569,15375577,15259074,15237426,14706010,14576349,12955496,12753720,12750295,12747469,12738793,12684410,12642901,12579280,12477932,12474542,11981820,11895916,11839793,11350933,11278880,11162423,10985391,10749879,10602019,10582691,10229664,9804823,9759843,9373149,9126478,8816400,8757325,8125298,7636191,2065333,1596907,1401919,16735575,16189514,15492270,15829968 2289398,2289401,2289404,2289406,2289422,68869,2289399,2289403,2289405,2289390,2289391,2289400,2289402,2289407 3732 NM_001024844,AC010768,CH471064,U67266,U67274,AK225410,AK225708,AY303776,BC000726,BC001821,NM_002231,BT019761,BT019762,CB127804,CR407650,CR542255,CR593263,CR606617,CR609000,CR615871,S48196,U20770 NP_002222,NP_001020015,EAW68063,EAW68064,EAW68065,AAC51205,AAP76181,AAH00726,AAH01821,AAV38566,AAV38567,CAG28578,CAG47051,AAB23825,AAC50133,P27701,Q6LET0,Q7Z2D4,Q7Z5N2,ABM83228,ABM86427 Hs.527778 GDB:134216 4F9|C33|GR15|IA4|KAI1|R2|SAR2|ST6|TSPAN27 protein-coding 1320150 CD83 CD83 molecule 1580863 1378080,8422464,9310491,18292234,18056445,17628801,17561858,17535098,17469160,17428858,17197902,17178712,16806233,16484227,16344560,16012714,15905506,15721284,15489334,15454113,15340161,15320871,14962896,14687618,12857898,12594843,12477932,12182451,12072358,11751963,11238630,10567699,9799334,9417921,9373149,8125298,7706722,15956545,15611322 9308 CR600901,CR605061,DB178710,Z11697,NM_004233,NM_001040280,AL022396,AL133259,CH471087,CQ815388,CQ840966,S53354,AK223315,AK290426,BC004351,BC030830,BT019498,CR457019 CAA77755,Q01151,Q5THX9,ABM83282,ABM86489,CAG33300,NP_004224,NP_001035370,CAI20374,CAB96723,EAW55351,EAW55352,EAW55353,CAG32923,CAH05711,AAB25085,BAD97035,BAF83115,AAH30830,AAV38305 Hs.654558 GDB:138277 BL11|HB15 cd83 antigen (activated b lymphocytes, immunoglobulin superfamily) protein-coding 1352472 CD83P CD83 antigen (activated B lymphocytes, immunoglobulin superfamily) pseudogene 387033 1349028 CD84 CD84 molecule Members of the CD2 (see MIM 186990) subgroup of the Ig superfamily, such as CD84, have similar patterns of conserved disulfide bonds and function in adhesion interactions between T lymphocytes and accessory cells.[supplied by OMIM] 9310491,7797269,17563375,16710414,16037392,15489334,15245368,12962726,12928397,12621057,12477932,12115647,11689425,11564780,11477068,11414741,11389028,11313386,11238035,10746783,10698700,3008886,16189514 8832 NM_003874,AF081189,AF081191,AF101031,AF114490,AL138930,CH471121,AF054815,AF054816,AF054817,AF054818,BC020063,CR541847,AJ223324,CR933666,U82988,U96627,Y12632 NP_003865,AAD13155,AAF21784,AAF06840,AAK68906,CAI15158,CAI15159,CAI15160,CAI15161,CAI15162,CAI15163,EAW52707,EAW52708,EAW52709,EAW52710,EAW52711,EAW52712,AAF21721,AAF21722,AAF21723,CAA11264,AAH20063,AAF21724,CAG46645,CAI45963,AAB84364,AAD04232,CAA73181,Q96RX1,Q9UIB8,ABM82634,ABM85798 Hs.398093 GDB:9957348 DKFZp781E2378|LY9B|SLAMF5|hCD84|mCD84 cd84 antigen (leukocyte antigen) protein-coding 1604658 CD86 CD86 molecule This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. 9915850,7694363,7513726,18301333,18069758,18005680,17989345,17977894,17947667,17925605,17919231,17622942,17524139,17513529,17386046,16712644,16690948,16339520,16223675,16115907,16002699,15942292,15895390,15628695,15623548,15489334,15280476,15163715,15110532,15059478,15045639,15034022,15019278,14978077,14975605,14871408,14727087,14692664,12905492,12878356,12829914,12672403,12606712,12582153,12513711,12486098,12477932,12372936,12213904,12187923,12100033,12097397,12071705,11029388,11021528,10886401,10464129,9573027,9250865,7694153,7542604,7541777,7527824,7520767,7495740,7489738,17077296,16272310,16177101,15956545,15611322,16189514,12015893,11986949,11826754,11823047,11751963,11726649,11714768,11702979,11496240,11279501,11238115,11207262,11196673,11169444,11162656,11123305 942 NM_175862,NM_006889,AC068630,CH471052,EF064748,U17722,AK291497,BC040261,CR541844,CR600347,L25259,U04343 NP_787058,NP_008820,EAW79493,EAW79494,ABK41931,AAA86473,BAF84186,AAH40261,CAG46642,AAA58389,AAB03814,P42081,ABM92234,ABM84713 Hs.171182 GDB:433597 B7-2|B70|CD28LG2|LAB72|MGC34413 protein-coding 735285 CD8A CD8a molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigen displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain isoforms. Two alternative transcripts encoding distinct isoforms, one membrane associated and one secreted, have been identified. 17658607,16821115,16818755,15975922,15927673,15078895,14702039,14559993,14500983,12899833,12594841,12477932,12215456,12124384,11937547,11914379,11729321,11435463,11140838,11102443,10843658,10809759,10623829,10562325,10490978,10444591,10022843,9804427,9790534,9550407,11131152,2470098,2493728,9830036,2496167,18418773,18156204,18089323,17950725,17678538,9366416,9331948,9177355,8127870,6605969,6440142,3936473,3918796,3871356,3145195,2877435,2701945,2536941,2509342,1908512,1834739,1831127,1676132,1547508,1541829,16454711,16354571,11251883 925 NM_001768,AC064848,CH471053,M26313,M26314,M26315,M27161,AK097942,AK124156,AY039664,BC025715,CR619549,M12824,M12828,NM_171827 NP_001759,AAX88864,EAW99438,EAW99439,EAW99440,EAW99441,AAA79218,AAA79217,AAA59674,BAC85789,AAK72403,AAH25715,AAA61133,AAB04637,P01732,Q4ZG17,Q6ZVS2,Q8TAW8,Q96QR6,ABM84249,ABM87637,ABM87638,NP_741969 Hs.85258 GDB:120581 CD8|Leu2|MAL|p32 cd8 antigen, alpha chain protein-coding 736307 CD8B CD8b molecule The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigen displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. 11131152,2493728,9830036,16103193,3145195,12702212,12477932,12459555,12215456,11937547,10809759,10623829,9550407,8436166,3860845,3264320,3145196,3114136,2536941,2111591,1541829,15980863 926 BC100912,BC100913,BC100914,BQ004743,M36712,X13444,X13445,X13446,X13452,Y00805,NM_172102,NM_172213,NM_172101,NM_172099,NM_004931,AC111200,AC112696,AY032722,M17514,S55731,S87075,S87083,S87087,S87090,AW296309,AW611750,BC100911 AAI00912,AAI00913,AAI00914,AAI00915,AAA35664,CAA31795,CAA31796,CAA31797,CAA31803,CAA68750,P10966,Q496E0,Q496E1,Q496E2,Q53QL8,Q8TD28,Q8TD29,Q9UDB4,Q9UDB5,Q9UDB8,Q9UDB9,Q9UDC0,Q9UQ56,NP_742100,NP_757362,NP_742099,NP_742097,NP_004922,AAY24019,AAK91556,AAK91557,AAA52283,AAD13877,AAB21668,AAB21671,AAB21672,AAB21670,AAB21669 Hs.405667 GDB:119771 CD8B1|LYT3|Leu2|Ly3|MGC119115 cd8 antigen, beta chain protein-coding 1348494 CD8BP CD8b molecule pseudogene 8575821,8436166,8346216,3860845,1541829 927 NG_002423,AC108868 GDB:133726 CD8B2 cd8 antigen, beta polypeptide 2, pseudogene (p37) pseudo 732702 CD9 CD9 molecule The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It can modulate cell adhesion and migration and also trigger platelet activation and aggregation. In addition, the protein appears to promote muscle cell fusion and support myotube maintenance. 734730,1580863 11278880,11504738,7511626,8478605,14575715,2037603,10515286,6198179,18000614,17644758,17582603,17522207,17407154,17406028,17203208,17018612,17015697,16951553,16900214,16682943,16537545,16144798,16128989,16103120,15985154,15941914,15591117,15489334,15389525,15226408,15196249,15145525,15047125,14556650,12579280,12569360,12477932,12453879,12411441,12175627,12086470,12036870,11959120,11920609,11858824,11846885,11739647,11735113,11325968,11238109,11204565,11087758,10711425,10694273,10518536,10459022,10429193,10229664,10227388,10065872,9813091,9812906,9804823,9360996,9295027,9111230,8838570,8630057,8486348,7687539,2358073,1997380,1939101,1879540,1840589,1720807,1377690,16940516,16735575,15492270,16189514,16491954,16297202 734730 928 NM_001769,AC006057,AY422198,CH471116,L08119,L08120,L08121,L08122,L08123,L08124,S60489,AB079244,AY423720,AY966455,BC011988,CR598565,CR599016,CR599322,CR619299,L34068,M38690,X60111 NP_001760,AAQ87878,EAW88812,EAW88813,AAA51954,AAA51955,AAA51956,AAA51957,AAA51958,AAA51959,AAC60586,BAE71132,AAS00483,AAX78197,AAH11988,AAA59982,AAA80320,CAA42708,P21926,Q56CY1,ABM82240,ABM85424 Hs.114286 GDB:120582 5H9|BA2|BTCC-1|DRAP-27|GIG2|MIC3|MRP-1|P24|TSPAN29 cd9 antigen protein-coding 1351917 CD93 CD93 molecule The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. 1580863 11781389,15459234,15819698,9047234,11994479,10092817,18094537,16381901,15489336,15489334,14702039,12891708,12477932,12213329,12140365,11780052,11256614,11204562,11086025,11076863,10648005,10430665,9777410,9476117,9469455,9136074,8710908,8062452,2212670,1377218,16189514 22918 NM_012072,AL118508,CH471133,AB209895,AJ295142,AK056764,BC028075,CR611513,U94333 NP_036204,CAC00597,EAX10171,BAD93132,CAC82720,AAH28075,AAB53110,Q0JS87,Q0JTK2,Q59EB6,Q8IXK1,Q9NPY3,CAL38160,CAL38627,ABM81981,ABM85160 Hs.97199 GDB:11504363 C1QR1|C1qR(P)|C1qRP|CDw93|MXRA4|dJ737E23.1 complement component 1, q subcomponent, receptor 1 protein-coding 1343806 CD96 CD96 molecule The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863 1313846,17847009,17576927,15034010,12477932,9845376 10225 AL833681,AW341041,BC020749,BC027914,NM_198196,NM_005816,AC055748,AC092916,CH471052,AK290719 BAF83408,CAI46155,AAH20749,AAH27914,P40200,Q05CA3,Q8WUE2,NP_937839,NP_005807,EAW79696,EAW79697,EAW79698 Hs.142023 DKFZp667E2122|MGC22596|TACTILE protein-coding 1313717 CD97 CD97 molecule This gene is a member of the EGF-TM7 family of class II seven-span transmembrane (7-TM) molecules, likely encoded by a gene cluster on the short arm of chromosome 19. The encoded product is a glycoprotein that is present on the surface of most activated leukocytes and spans the membrane seven times, which is a defining feature of G protein-coupled receptors. The protein has an extended extracellular region with several N-terminal epidermal growth factor (EGF)-like domains, which mediate binding to its cellular ligand, decay accelerating factor (DAF, CD55), a regulatory protein of the complement cascade. The presence of structural features characteristic of extracellular matrix proteins and transmembrane proteins suggests that this protein is a receptor involved in both cell adhesion and signaling processes early after leukocyte activation. Alternative splicing has been observed for this gene and three variants have been found. 1580863 8955192,11297558,7636245,18267122,17449467,16929497,16818763,16344560,16273233,15576472,15489334,15057824,14702039,14647991,12829604,12477932,12417446,12414513,11380941,11037979,10540231,9764855,9373149,9135025,9064337,8786105,8125298 976 NM_078481,NM_001025160,NM_001784,AB065966,AC005327,AC008569,CH471106,X94630,AK097264,AK225655,AK225677,AK292159,AU117846,AY545551,BC026690,BM545710,CB127827,CR601106,U76764,X84700 NP_510966,NP_001020331,NP_001775,BAC06178,AAC27673,EAW84412,EAW84413,CAA64333,BAF84848,AAH26690,AAB36682,CAA59173,P48960 Hs.466039 GDB:696371 TM7LN1 cd97 antigen protein-coding 1344139 CD99 CD99 molecule The protein encoded by this gene is a cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway. In addition, the encoded protein may have the ability to rearrange the actin cytoskeleton and may also act as an oncosuppressor in osteosarcoma. Cyclophilin A binds to CD99 and may act as a signaling regulator of CD99. This gene is found in the pseudoautosomal region of chromosomes X and Y and escapes X-chromosome inactivation. Two transcript variants encoding different isoforms have been found for this gene. 1580863 2479542,2465491,17652531,17471235,17464179,17213182,17202377,16984917,16825498,16713569,16614706,16421247,16361803,16189514,15716602,15528994,15489334,15469477,15388255,15359120,15184883,14744088,14646598,14623115,12832073,12526082,12508122,12477932,12216109,12172043,11290771,10941840,9720506,9670951,7506950,7464908,6540985,4065101,4058580,3472717,3460334,3442403,2934738,2877492,2456574,12681511 4267 CR450286,CR590061,CR598638,CR599137,CR599762,CR605688,CR606510,CR610873,CR611199,CR611995,CR612683,CR613006,CR613826,CR613828,CR615331,CR617471,CR620339,DT216927,M16279,U82164,X16996,NM_002414,NM_001122898,AC006209,CH471074,J03841,BC002584,BC003147,BC010109,BC021620,BC024310 CAG29282,AAA02999,AAB58501,CAA34863,P14209,Q6ICV7,ABM82838,NP_002405,NP_001116370,EAW98697,EAW98698,EAW98699,EAW98700,AAA59848,AAH02584,AAH03147,AAH10109,AAH21620,AAH24310 Hs.654354 MIC2|MIC2X|MIC2Y cd99 antigen protein-coding 1347739 CD99L1 CD99 antigen-like 1 7833914 4196 735542 CD99L2 CD99 molecule-like 2 16381901,15489336,14702039,12975309,12706889,12477932,11230166,11076863 83692 NM_134446,NM_031462,AF002223,AF274573,CH471169,AK023776,AK024278,AK098810,AK125020,AK126859,NM_134445,AK290200,AK291375,AL136580,AY078165,AY078166,AY078167,AY358837,BC007569,BC013029,BC019857,BC025729,CR610005,CR611984,BC030536 NP_604394,NP_604395,NP_113650,EAW99389,EAW99390,EAW99391,EAW99392,EAW99393,EAW99394,EAW99395,EAW99396,BAC86725,BAF82889,BAF84064,CAB66515,AAL86617,AAL86618,AAL86619,AAQ89196,AAH07569,AAH13029,AAH25729,AAH30536,Q6ZT69,Q8TAW2,Q8TCZ0,Q8TCZ1,Q8TCZ2,Q96E20,Q9BQG9,CAL38481,CAL38661,ABM82248,ABM85432 Hs.522805 CD99B|DKFZp761H2024|MIC2L1 mic2 like 1 protein-coding 1322377 CDA cytidine deaminase This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. 1580863 7923172,9596658,15689149,16303324,18347182,17640070,17479107,17194903,16710414,16507781,16446974,16304576,15713780,15489334,14983087,14744791,14565461,14565460,12844405,12477932,12113294,12107413,10497201,9878810,8422236,8001985,53069,12651944,17464349 978 BC048284,BC054036,CD675458,L27943,S52873,NM_001785,AF061655,AF061656,AF061657,AF061658,AF095644,AL391357,CH471134,AJ000474,AY634312 AAH54036,AAA57254,AAB24946,P32320,Q6GV32,Q71UE9,NP_001776,AAD15828,AAC69599,CAH73474,EAW94931,EAW94932,EAW94933,CAA04113,AAT47715 Hs.466910 GDB:137169 CDD protein-coding 1323516 CDADC1 cytidine and dCMP deaminase domain containing 1 16955368,12477932 81602 NM_030911,AL138875,CH471075,AL137554,AY027525,BC009562,BC022801,BC032889,BC048092,BC070238,BC092434,BC125202,BC125203 NP_112173,CAI10890,CAI10891,EAX08815,EAX08816,EAX08817,EAX08818,EAX08819,CAB70808,AAK16745,AAH09562,AAH32889,AAH48092,AAH70238,AAH92434,AAI25203,Q569J7,Q5TAW8,Q5TAX1,Q6NSE0,Q9BWV3 Hs.388220 MGC150615|MGC41774|MGC57136|NYD-SP15|RP11-103J18.2|bA103J18.1 protein-coding 1315579 CDAN1 congenital dyserythropoietic anemia, type I 1600473 17353931,18081704,16767397,15489334,12975309,12477932,12434312,8634422 1600473 146059 NM_138477,AC090510,CH471125,AF525398,AL133019,BC001092,BC008333,BC008334,BC052568,BC066640 NP_612486,EAW92576,EAW92577,EAW92578,EAW92579,AAO14994,AAH01092,AAH08333,AAH08334,AAH52568,AAH66640,Q8IWY9 Hs.599232 GDB:9823267 CDA-I|CDA1|CDAI|DLT|PRO1295|codanin protein-coding 1348574 CDAN2 congenital dyserythropoietic anemia, type II 9345103 980 GDB:9823270 1350236 CDAN3 congenital dyserythropoietic anemia, type III 7711721 981 GDB:386192 1351187 CDB2 corneal dystrophy of Bowman's layer type II (Thiel-Behnke) 9403072 982 GDB:6919860 1353969 CDC10L CDC10 cell division cycle 10 homolog (S. cerevisiae) like 387655 Q9H5B2 XM_370545 1349682 CDC10P CDC10 cell division cycle 10 homolog (S. cerevisiae) pseudogene 317774 NG_002472,AL121594 pseudo 733862 CDC123 cell division cycle 123 homolog (S. cerevisiae) 632556 8601400,15319434,10942595,15489334,15164054,12477932,9683532,9373149,8125298 632556 8872 NM_006023,AL512770,CH471072,AK225634,AK289362,BC001600,BC009598,CR456966,CR592461,CR595119,CR595560,CR596007,CR597080,CR623116,D14878,U27112 O75794,NP_006014,CAI12495,CAI12496,CAI12497,CAI12498,CAI12499,CAI12500,EAW86317,EAW86318,BAF82051,AAH01600,AAH09598,CAG33247,BAA03593,AAC34738 Hs.412842 C10orf7|D123 protein-coding 1312211 CDC14A CDC14 cell division cycle 14 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. 16221885,9367992,17623655,17371873,17172867,16784539,16760464,16344560,15911625,15489334,15263015,12477932,12134069,11901424,11598127,10644693,10409437 8556 BU609013,CB156695,DA461435,DA885382,DQ530256,NM_003672,NM_033312,NM_033313,AC104457,AL589990,AY623111,CH471097,AA929031,AB209857,AF000367,AF064102,AF064103,AF122013,BC038979,BC071578,BC093916,BC093918 ABF74568,Q59EF4,Q5VUH7,Q5VUH8,Q5VUH9,Q9UNH5,NP_003663,NP_201569,NP_201570,AAT38107,EAW72956,EAW72957,EAW72958,EAW72959,EAW72960,BAD93094,AAB88277,AAC16659,AAC16660,AAD49217,AAH38979,AAH93916,AAH93918 Hs.127411 GDB:9955619 cdc14|hCDC14 protein-coding 1322476 CDC14B CDC14 cell division cycle 14 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. 1580863 9367992,16344560,15911625,15899858,15362113,12853468,12697818,12477932,12134069,11901424,10644693,9373149,8125298 8555 NM_003671,NM_033331,NM_001077181,AL133477,AL353578,AY675321,CH471174,AF023158,AF064104,AF064105,AK126388,AK225361,BC050013,CR601692,DA943563,EF611343 NP_003662,NP_201588,NP_001070649,CAI39616,CAI39617,CAI39619,CAI40536,CAI40537,CAI40540,CAI40541,AAT70726,EAW92658,EAW92659,AAB88293,AAC16661,AAC16662,ABR12627,O60729,Q5JU06,Q5JU09,Q5JU10,Q5JU11,AAI56667 Hs.40582 GDB:9955616 CDC14B3|Cdc14B1|Cdc14B2|hCDC14B protein-coding 1604976 CDC14C CDC14 cell division cycle 14 homolog C (S. cerevisiae) 16201836,12477932 168448 NR_003595,AC006024,CH236955,DQ120635,BC028690,BC068452 EAL23905,EAL23906,ABB92421,AAH28690,AAH68452,A4D256 Hs.567757 CDC14B2|MGC26484 pseudo 1312892 CDC16 cell division cycle 16 homolog (S. cerevisiae) This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified. 11285280,7736578,14593737,15029244,10793135,11256614,11535616,11742988,12070128,10548110,11340163,16964243,16565220,15489334,14702039,14657031,12629511,12477932,12196507,12029633,11691834,11179667,10922056,10500174,10477750,10318877,9628895,9469815,9405394,12956947 8881 NM_001078645,NM_003903,AK095082,AL540490,BC010875,BC017244,BC050575,CR626847,U18291,AL160396,AY599074,CH471085,AB209850,AF164598 NP_001072113,AAH10875,AAH17244,AAC50200,Q13042,Q59EG1,Q5T8C1,Q5T8C4,Q5T8C5,Q5T8C6,Q5T8C8,Q7Z651,NP_003894,CAI15810,CAI15811,CAI15812,AAS94323,EAX09237,EAX09238,EAX09239,EAX09240,EAX09241,EAX09242,EAX09243,EAX09244,EAX09245,BAD93087,AAD45156 Hs.374127 GDB:9957515 APC6 cdc16 cell division cycle 16 homolog (s. cerevisiae) protein-coding 731889 CDC2 cell division cycle 2, G1 to S and G2 to M The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. 1358139 7969176,11069302,11285280,10793135,1717476,9001210,10395539,1384126,1828290,7799941,11598127,12791267,16109376,18356527,18347064,18337751,18230152,18195732,18056802,18025303,18003885,17960875,17636382,17525531,17498878,17488622,17474786,17472438,17466630,17419986,17386261,17373700,17359356,17351640,17242184,17192257,17172867,17171635,17159347,17098733,17043241,17013563,17012222,16888198,16880739,16880735,16807237,16784539,16682949,16629900,16565220,16533053,16519687,16478538,16474839,16465393,16458891,16427064,16407259,16381901,16377132,16371510,16258277,16247472,16237118,16198290,16192727,16159883,16142332,16118207,16036217,15951569,15888452,15790566,15767402,15735705,15678101,15662526,15635413,15604258,15592455,15591787,15582998,15541388,15531913,15525677,15489336,15489334,15474478,15368451,15345747,15317660,15311285,15215233,15181148,15175024,15145941,15125835,15073847,15030318,15024056,15016823,15014043,14993212,14697231,14654553,14645578,14635192,14551205,12912980,12884029,12881709,12853968,12839990,12832492,12810701,12775724,12771130,12742823,12676926,12648761,12613668,10938080,10924145,10921877,10825186,10769027,10767298,10764745,10716937,10656688,10636877,10602502,10564259,10524633,10504341,10497277,10403367,10373560,10077596,9990288,9988268,9926943,9753325,9733650,9725910,9614189,9600099,9585407,9575153,9560267,9525956,9524113,9520381,9515786,9467962,9398320,9315091,9295339,9271440,9268380,9247342,9244350,9242535,9235942,9188632,9141461,9130708,9126608,9109675,9094673,8910336,8806671,8672508,8652557,8631817,8626512,8565853,8548803,8491187,8440392,8428596,8404858,8376365,8325880,8127873,8125092,8119945,8087847,8084605,8051175,8051108,8034666,7983050,7949095,7925482,7902715,7822264,7724583,7716549,7673335,7666531,7635160,7592773,7590285,7578274,7499230,7494303,7474100,7474080,3553962,3289755,2686978,2570636,2541912,2538242,2473839,2344612,2227411,2183353,1939057,1916766,7944411,12612056,12604359,12586835,12569365,12569090,12556484,12551973,12525641,12477932,12468530,12450396,12411508,12407107,12397081,12372621,12200623,12186947,12177195,12151413,12145207,12110603,12107172,12077309,12058066,11986303,11953320,11901153,11895447,11878934,11861764,11836499,11782384,11779217,11774038,11687586,11683421,11584018,11559705,11549262,11531413,11504921,11470801,11444800,11331587,11327730,11310559,11278991,11278541,11259605,11135364,11113184,11113134,11076863,10973963,10958988,1756735,1748630,1425574,1406653,1400350,1388288,1318195,1310466,914146,17011204,8524869,15050687,16354571,15725353,15578977,15265780,15142377,15817944,15780175,9891079,16189514,15367677,14499622,15082718,10747892,10362260,15989971,15735702,15525513,8475101,7737117,8423786,15782160,8662825,12124778,15674323,10766737,8070405,8463339 983 NM_001786,NM_033379,AC022390,AF512554,CH471083,AK291939,BC014563,BC107750,BT007004,CR595214,CR597955,CR603310,D88357,X05360,Y00272,CR933728 NP_001777,NP_203698,AAM34793,EAW54204,EAW54205,EAW54206,EAW54207,EAW54208,EAW54209,EAW54210,BAF84628,AAH14563,AAI07751,AAP35650,BAA26001,CAA28963,CAA68376,P06493,Q0JSB2,Q0JTJ7,Q0JU86,Q3B785,Q5H9N4,CAI46271,CAL37461,CAL37925,CAL38165,CAL38602 Hs.334562 GDB:119052 CDC28A|CDK1|DKFZp686L20222|MGC111195 cell division cycle 2 homolog a (s. pombe) protein-coding 731833 CDC20 cell division cycle 20 homolog (S. cerevisiae) CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. 632471,1580863 9811605,9736712,9734353,9637688,9628895,9373149,9353311,8125298,16751065,12956947,11459826,16189514,14607335,14561775,11707408,11438673,15916961,15694304,12456649,11030144,14743218,17353931,17719540,18022367,11285280,9682218,14593737,12791267,11535616,11742988,12070128,15469984,7513050,17908926,17873905,17598981,17388661,16795040,16777988,16710414,16572426,16497171,15761153,15701830,15623561,15525512,15489334,15388328,15280373,14657031,12887895,12477932,12198152,12196507,11988738,11976684,11907259,11891222,11804586,11553328,11389834,11274370,10700282,10679238,10459014,10377410,10366450 632471 991 AL139289,NM_001255,CH471059,DQ473545,AF099644,AK225504,BC000624,BC001088,BC006272,BC009425,BC009426,BC010044,BC012803,BC012827,BC013303,BC015998,BC024257,BC031294,BC110321,BT007388,CR591723,CR593228,CR599336,CR601346,CR604441,CR607618,CR608726,CR608787,CR611701,CR614624,CR615732,CR616813,CR617348,CR622481,U05340 NP_001246,EAX07101,EAX07102,ABE96834,AAD16405,AAH00624,AAH01088,AAH06272,AAH09425,AAH09426,AAH10044,AAH12803,AAH12827,AAH13303,AAH15998,AAH24257,AAH31294,AAI10322,AAP36052,AAA19017,Q12834,ABM83216,ABM86415 Hs.524947 GDB:701611 CDC20A|MGC102824|bA276H19.3|p55CDC cell cycle protein p55cdc protein-coding 1602643 CDC20B cell division cycle 20 homolog B (S. cerevisiae) 14702039,12477932 166979 NM_152623,AC091977,CH471123,AB077043,AB077044,AB081750,AB086378,AK095246,BC037547 NP_689836,EAW54901,EAW54902,EAW54903,EAW54904,EAW54905,EAW54906,EAW54907,BAC67701,BAB97393,BAC67702,BAC67705,BAC04508,AAH37547,Q86Y31,Q86Y32,Q86Y33,Q8IUZ8,Q8N1S1,Q8NG56 Hs.669184 FLJ37927|G6VTS76519 protein-coding 1605274 CDC20P cell division cycle 20 homolog (S. cerevisiae) pseudogene 9682218 157956 NG_001560,AL513318 pseudo 1312484 CDC23 cell division cycle 23 homolog (S. cerevisiae) The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. 1580863 12629511,11285280,12188893,14657031,14593737,15029244,10793135,9790767,11535616,11742988,12070128,11256614,10548110,11340163,17081983,16964243,16565220,16189514,15489334,15345747,15302935,12477932,10922056,10500174,10318877,9469815,9373149,8125298,12956947 8697 NM_004661,AC106752,AY603103,CH471062,AB011472,AF053977,AF191341,AK223250,AK291610,BC005258,BC010944,BC017713,BT009810 NP_004652,AAS99353,EAW62154,EAW62155,EAW62156,BAA75628,AAC70920,AAF05755,BAD96970,BAF84299,AAH05258,AAH10944,AAH17713,AAP88812,Q53FN2,Q9UJX2,ABM82612,ABM85796 Hs.153546 GDB:9956349 APC8 cdc23 (cell division cycle 23, yeast, homolog) protein-coding 731492 CDC25A cell division cycle 25 homolog A (S. pombe) CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. 1580863 14727060,14681206,14673957,14657354,14603323,14559997,14517313,12963847,12801928,12759351,12738732,12676925,12676583,12477932,12411508,12388094,12234927,12110582,11912208,11805096,11752153,11585757,11584018,11416155,11106571,10926775,10827953,10740819,10454584,10373531,10373478,9989807,9858615,9779991,9707427,9604936,9466490,9230211,8668211,8617791,8276402,7744247,7667636,7644510,1836978,17292828,12791985,11139144,1828290,10454565,12399544,18316586,18204780,18167338,18073536,17912454,17671423,17545210,17172867,17018577,17001315,16912045,16720623,16644029,16598773,16189514,15798217,15572030,15489334,14767575,9891079,15311285,10766737 993 NM_201567,NM_001789,AC104190,AC124916,AF112978,AF527417,AJ242714,CH471055,AF277722,AI917350,AK290554,AY137580,BC007401,BC018642,BQ065803,BX392016,M81933 NP_963861,NP_001780,AAM77917,EAW64849,EAW64850,EAW64851,EAW64852,AAG41884,BAF83243,AAN11305,AAH07401,AAH18642,AAA58415,P30304,ABM81679,ABM83845,ABM87167 Hs.437705 GDB:133773 CDC25A2 cell division cycle 25a protein-coding 1604653 CDC25B cell division cycle 25 homolog B (S. pombe) CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. 17353931,9188863,1836978,8276402,15456846,1828290,18235220,18089784,17651784,17599046,17591782,17548358,17336969,17106257,17018577,17003105,16861915,16082213,15908796,15629715,15550849,15489334,15311285,15173315,15150265,15128871,15003534,14767575,14702039,14559803,12764136,12681290,12569365,12527891,12477932,12400006,12107172,11780052,11689696,10822367,10740819,10713667,10543950,10444066,10403798,9733650,9585407,9278511,9268380,9141461,8468065,8440392,7667636,7644510,1662986 994 NM_021872,NM_021873,NM_004358,AF036233,AL109804,AY494082,CH471133,X96436,AK092713,AK124284,BC006395,BC009953,BC051711,BX640836,BX647988,CR591656,CR615304,CR620818,CR621743,M81934,S78187,Z68092 NP_068658,NP_068659,NP_004349,AAB94622,AAB94623,AAB94624,AAB94625,CAC17548,CAC17549,CAI18847,AAR26469,EAX10491,EAX10493,EAX10494,EAX10496,EAX10498,EAX10499,CAA65303,BAC85826,AAH06395,AAH09953,AAH51711,CAE45909,AAA58416,AAB21139,CAA92108,O43550,P30305,Q5JX75,Q5JX76,Q6MZW8,Q6ZVN5,Q7LDQ7 Hs.153752 GDB:133774 protein-coding 1323559 CDC25C cell division cycle 25 homolog C (S. pombe) This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. 1580863 16330544,17110335,17349584,11078813,12791985,11139144,1828290,2195549,10330186,11063929,9278512,11897663,12766774,18384749,18056802,17611691,17591782,17548228,17419986,17382881,17097061,16964243,16807237,16649252,16648550,16582626,16582488,16356754,16344560,16000564,15887239,15791647,15708996,15574328,15489334,15150265,14972559,14968113,14702039,12941695,12937170,12857880,12595692,12477932,12386164,12175337,12110603,12099692,11933156,11925443,11896603,11842186,11836499,11691994,11551930,11531413,11389730,11337467,11333986,11304565,11202906,10921877,10864927,10853038,10744722,10740819,10681541,10557092,10037602,9923681,9733650,9585407,9520381,9499405,9482729,9278511,9268380,9141461,8440392,8432534,8402895,8119945,7494303,7479023,7474100,1836978,1703321,1386342,16751065,15638722,15265780,15142382,16189514,15735702,15766665 995 NM_022809,NM_001790,AC104116,AY497474,CH471062,Z29077,AF086323,AF277723,AF277724,AF277725,AF277726,AF312681,AJ304504,AK097710,AU098899,BC019089,CR590865,CR595730,CR605066,CR618165,DB040755,M34065 NP_073720,NP_001781,AAR32098,EAW62145,EAW62146,EAW62147,EAW62148,EAW62149,EAW62150,AAG41885,AAG41886,AAG41887,AAG41888,AAL26835,CAC19192,AAH19089,AAA35666,P30307,Q9H2F0 Hs.656 GDB:129559 CDC25 cell division cycle 25c protein-coding 1322746 CDC26 cell division cycle 26 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. 1580863 11285280,14593737,15029244,10793135,10922056,11535616,11742988,12070128,10548110,11340163,15489334,15164053,12477932,8895471,12956947 246184 CD685602,NM_139286,AL449305,CH471090,AF503918,BC042534,BC066300,BF244254,BQ446788,CA446805 Q8NHZ8,NP_644815,CAI10967,EAW87360,EAW87361,AAM34207,AAH42534,AAH66300 Hs.530284 C9orf17 cell division cycle 26 protein-coding 1353454 CDC26P cell division cycle 26 pseudogene 387028 1312639 CDC27 cell division cycle 27 homolog (S. cerevisiae) The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eucaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and thus may be involved in controlling the timing of mitosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 16648845,17719540,11285280,7736578,14593737,15029244,10793135,11256614,11535616,11742988,12070128,10548110,11340163,17827148,16565220,16344560,15489334,15342556,15252450,14657031,12853486,12797865,12477932,12429948,12196507,11691834,11524682,10939594,10922056,10500174,10477750,10318877,10037602,9736712,9618490,9499405,9469815,9405394,8619132,8234252,7756179,16189514,15280373,15082755,12956947,14561775,15916961 996 NM_001256,NM_001114091,AC002558,AY518321,CH471231,AU135593,BC011656,BI548077,BP234964,CR613932,DQ786193,S78234,U00001 NP_001247,NP_001107563,AAR89911,EAW57686,EAW57687,EAW57688,EAW57689,AAH11656,AAB34378,AAA60471,P30260,ABM83706,ABM87026 Hs.463295 GDB:291218 APC3|CDC27Hs|D0S1430E|D17S978E|HNUC cell division cycle 27 protein-coding 1604656 CDC2L1 cell division cycle 2-like 1 (PITSLRE proteins) This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L2, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L2, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L2 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Several alternatively spliced variants of this gene have been reported. 9632733,9580558,9115219,7920654,7777541,2217177,1774066,12501247,12624090,17353931,9750192,8195233,1639388,10882096,17081983,16964243,15883043,15489334,15345747,15330758,15302935,15175163,14684736,14675149,14623875,14511641,12477932,12082095,11709559 984 NM_033487,NM_033486,NM_033492,NM_033493,NM_033489,NM_033488,XM_001713735,XM_001713748,XM_001716018,XM_001715985,XM_001716055,XM_001716037,AF080683,AL031282,CH471183,M88563,AF067512,AF067513,AF067514,AF067515,AF067516,AF067517,AF174497,AK000081,BC009375,BC139777,CR600892,CR617963,CR619853,U04816,U04817,U04818,U04824 NP_277022,NP_277021,NP_277027,NP_277028,NP_277024,NP_277023,XP_001713787,XP_001713800,XP_001716070,XP_001716037,XP_001716107,XP_001716089,AAC83662,AAC83663,AAC83664,AAC83665,AAC83666,EAW56170,EAW56171,EAW56172,EAW56173,AAB59449,AAC72077,AAC72078,AAC72079,AAC72080,AAC72081,AAC72082,AAF36538,AAH09375,AAI39778,AAA19582,AAA19583,AAA19584,AAA19586,P21127,Q6P5Y5,Q6PK02 Hs.651228 GDB:127827 CDK11|CDK11-p110|CDK11-p46|CDK11-p58|CLK-1|PK58|p58|p58CDC2L1|p58CLK-1 protein-coding 1604655 CDC2L2 cell division cycle 2-like 2 (PITSLRE proteins) This gene encodes a member of the p34Cdc2 protein kinase family. p34Cdc2 kinase family members are known to be essential for eukaryotic cell cycle control. This gene is in close proximity to CDC2L1, a nearly identical gene in the same chromosomal region. The gene loci including this gene, CDC2L1, as well as metalloprotease MMP21/22, consist of two identical, tandemly linked genomic regions, which are thought to be a part of the larger region that has been duplicated. This gene and CDC2L1 were shown to be deleted or altered frequently in neuroblastoma with amplified MYCN genes. The protein kinase encoded by this gene could be cleaved by caspases and was demonstrated to play roles in cell apoptosis. Many transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of only two have been determined so far. 7920654,7777541,2217177,1774066,14623875,12446680,12501247,15231747,9750192,1639388,10882096,8195233,17606997,17177267,17081983,16710414,16462731,16039607,16004605,15963510,15883043,15330758,15302935,14511641,12624090,12477932,11980906,11683997,11506180,11181995,9740677,9632733,9580558,9115219 728642 NM_033529,NM_024011,AF080694,AF080695,AF080697,AF092426,AL691432,CH471183,AB209095,AF067518,AF067519,AF067520,AF067521,AF067522,AF067523,AF067524,AF067526,AF067527,AF067528,AF067529,AL043340,BC014464,BC028187,BC054019,BC062579,BC094827,BC104661,BC110905,DC388505,U04819,U07704,U07705 NP_277071,NP_076916,AAC95297,AAC95298,AAC95299,AAC95300,AAC95301,AAC95302,AAC95303,AAC95304,EAW56161,EAW56162,EAW56163,EAW56164,EAW56165,EAW56166,EAW56167,EAW56168,BAD92332,AAC72083,AAC72084,AAC72085,AAC72086,AAC72087,AAC72088,AAC72089,AAC72091,AAC72092,AAC72093,AAC72094,AAH14464,AAH28187,AAH62579,AAH94827,AAI10906,AAA19585,AAA19594,AAA19595,Q05C84,Q2TAJ0,Q3SWV2,Q4VBY6,Q59GL4,Q5QPQ9,Q5QPR3,Q5QPR4,Q96CA8,Q9UQ88,AAI04662 Hs.651228 GDB:127829 CDC2L3|CDK11-p110|CDK11-p46|CDK11-p58|MGC131975|PITSLRE|p58GTA protein-coding 1322573 CDC2L5 cell division cycle 2-like 5 (cholinesterase-related cell division controller) The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. Some of the cell cycle control kinases are able to phosphorylate proteins that are important for cell differentiation and apoptosis, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such as neurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually large N- and C-termini and is ubiquitously expressed in many tissues. Two alternatively spliced variants are described. 1580863 1731328,17081983,16964243,16730941,16721827,15635413,15302935,15231748,15144186,14702039,12853948,12477932,11347906,11162436,9847074,9373149,9013549,8125298,16189514 8621 NM_031267,AC006023,AC072061,AY679523,CH236951,CH471073,AB058694,NM_003718,AJ297709,AJ297710,AK025500,AK092534,AK223053,BC001274,BC080601,BF707421,M80629 NP_003709,NP_112557,AAD54514,AAS07490,AAS07491,AAT74623,EAW94128,EAW94129,EAW94130,EAW94131,EAW94132,EAW94133,BAB47420,CAC10400,CAC10401,BAD96773,AAH01274,AAA58424,Q14004,Q53G78,Q9BVE2 Hs.233552 GDB:9956039 CDC2L|CHED|FLJ35215|KIAA1791 protein-coding 1343762 CDC2L6 cell division cycle 2-like 6 (CDK8-like) This gene encodes a protein that is one of the components of the Mediator coactivator complex. The Mediator complex is a multiprotein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. 737633 17353931,18216018,17516030,15489334,15175163,14574404,12477932,12168954,10470851 737633 23097 AL512430,AL603914,CH471051,Z84480,AB028951,AJ420571,AK292360,AL122055,AY028424,BC024247,BC036637,BC037289,BC047513,NM_015076,BX647699 NP_055891,CAI40282,CAI40283,CAI40286,CAI41172,CAI41173,CAI41175,EAW48312,CAI20520,BAA82980,BAF85049,CAB59186,AAK27731,AAH24247,AAH37289,Q5JQZ9,Q9BWU1,Q9UFE3 Hs.584867 CDK11|KIAA1028|bA346C16.3 protein-coding 1313428 CDC34 cell division cycle 34 homolog (S. cerevisiae) The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. 1580863 17274640,8248134,17698585,17597759,17461777,16210246,16123592,15652359,15489334,14645576,12477932,12037680,11689688,11675391,11546811,11054541,10918611,10871850,10769200,10713156,10385629,10373550,10329681,9710583,9430629,9367342,8939846,16189514 997 AC011531,AC011556,AY650399,CH471242,AK291554,BC002332,BC009850,BC018143,BC023979,BT006659,CR594373,CR601841,CR602219,CR602363,CR621389,L22005,NM_004359 NP_004350,AAT46688,EAW61190,EAW61191,BAF84243,AAH09850,AAH18143,AAH23979,AAP35305,AAC37534,P49427,ABM81664,ABM84836,ABM85578 Hs.514997 GDB:266436 E2-CDC34|UBC3|UBE2R1 cell division cycle 34 protein-coding 732258 CDC37 cell division cycle 37 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. 1580863 11076863,11036079,10858314,10617616,10022854,9685350,9242486,9150368,8885235,8703009,17353931,15643424,8666233,18089825,18003639,17728246,17223712,16949366,16611982,16381901,16280321,16156789,16132836,15850399,15647277,15592455,15489336,15489334,15082798,15001580,14743216,14718169,14701845,14668798,12930845,12907640,12489981,12477932,12437126,12176997,11916974,11864612,11413142,11256614,11085988 11140 CR619982,CR620168,CR621344,CR622181,CR622926,CR623169,CR623653,CR624877,CR625450,U43077,U63131,CR619955,CR595404,CR597104,CR597588,CR597971,CR599394,CR600266,CR601406,CR603075,CR603671,CR604115,CR604866,CH471106,BC000083,BC008793,BC141928,BC141929,CR605910,CR605956,CR606284,CR607160,CR608539,CR608792,CR609165,CR611463,CR612537,CR613761,CR614005,CR615081,CR615317,CR616393,CR616599,CR616815,CR618219,BE796008,BT006796,CR542249,CR590644,CR590824,CR590949,CR591154,CR591546,CR592579,CR592585,CR593113,CR594743,NM_007065,AC011548,AC011557,AC134304,AY864824 AAB63979,AAB04798,Q0JTJ9,Q16543,Q53YA2,Q6FG59,CAL38163,CAL38227,ABM83100,ABM86295,AAW34362,EAW84101,EAW84102,EAW84103,AAH00083,AAH08793,AAI41929,AAI41930,AAP35442,CAG47045,NP_008996 Hs.160958 GDB:9956919 P50CDC37 protein-coding 1319564 CDC37L1 cell division cycle 37 homolog (S. cerevisiae)-like 1 CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM] 1580863 18052042,15850399,12477932,11413142,9373149,8125298 55664 NM_017913,AL136231,CH471071,AK000497,AK000646,AK225510,BC014133,CR598577,CR615490 NP_060383,CAC12705,CAI41270,EAW58782,BAA91206,BAA91304,AAH14133,Q5JVJ2,Q7L3B6,Q9H577 Hs.561954 CDC37B|FLJ20639|HARC|RP11-6J24.5 protein-coding 1316032 CDC40 cell division cycle 40 homolog (S. cerevisiae) Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. 1580863 9524131,12226669,17081983,15761153,15489334,14702039,14574404,12477932,11991638,11102353,9830021,9769104,9373149,9303539,8889548,8125298,7568168 51362 BC117145,BC126114,CB242479,CR620928,AL671518,CH471051,AB208903,AF015044,AF038392,AF061241,AK001426,AK222721,BC111061,NM_015891 AAI17146,AAI26115,O60508,Q2TA76,Q53H60,Q59H56,Q5SRM9,Q5SRN1,NP_056975,CAI13321,CAI13322,CAI13323,CAI13324,EAW48319,EAW48320,EAW48321,EAW48322,EAW48323,EAW48324,BAD92140,AAD01552,AAC39730,AAC25166,BAD96441,AAI11062 Hs.428147 EHB3|FLJ10564|MGC102802|PRP17|PRPF17 cell division cycle 40 homolog (yeast) protein-coding 730976 CDC42 cell division cycle 42 (GTP binding protein, 25kDa) The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. 12900413,12887923,12887922,12887916,12860998,12824775,12769846,12767056,12612085,12595527,12584113,12547822,12511425,12477932,12453877,16880514,16864657,16849480,16710414,16474136,16443932,16322481,16253996,16246732,16228294,16204230,16201754,16189514,16169070,15901767,15833843,15822942,15821030,15803130,15793569,15728253,15723050,15713627,15652341,15649357,15616194,15489334,15472119,11035016,10587647,11260256,11584266,14505571,16407834,18245474,18245386,18057010,18056353,18056264,18045877,17976533,17971488,17702745,17693642,17664338,17567985,17538024,17521326,17517067,17513786,17513457,17356711,17346701,17301947,17300218,17115031,17074883,17038317,15355962,15304341,15287724,15265891,15194684,15187089,15133042,15123662,15123659,15121898,15102814,15075243,15023524,14970210,14733946,14701795,14699061,14676191,14656933,14563854,12972601,12960248,12960245,12928366,12915445,16930532,12901880,9742969,9705280,9642115,9582072,9535835,9427749,9422512,9381982,9268338,9262406,9220962,9210375,9182573,9113980,9079650,8969170,8943016,8889548,8798539,8756646,8755667,8702968,8670801,8625410,8107774,8034624,7744004,7738010,7665558,7629060,7547927,12432077,12426222,12376551,12369824,12270144,12235133,12181570,12172552,12115629,12093730,12032833,12006984,11998687,11973651,11948177,11943145,11907271,11889037,11884513,11839748,11822867,11773441,11756552,11696321,11672528,11584276,11583574,11438723,11394904,11287617,11284700,11278572,11257000,11130076,10975523,10967094,10954711,10954424,10934474,10873802,10818149,10816584,10799524,10799501,10749885,10747870,10733591,10724160,10713100,10676816,10551883,10490598,10480361,10320322,10211824,10068673,10051605,9860974,9822598,9799233,9786927,9760238,15361624,9748241,7513047,2496687,2124704,2122236,1956381,1898776,16687395,16356860,10713183,8994833,14597672,10366564,12650940,12857875,12819203,14749388,15147912,15260990,17353931,14530271,12944407,15864311,15735674,12606577,15652748,12538863 998 NM_001791,NM_044472,AL031281,AY673602,CH471134,CS026525,AF498962,BC002711,BC003682,AF498963,AL121734,AL121735,AL121736,AL121737,NM_001039802,BC018266,BC018622,BM684474,BP871988,CR590120,CR595708,CR596776,CR601442,CR623987,M35543,M57298 NP_001034891,NP_001782,NP_426359,CAB52602,CAD92551,CAI19851,AAT70721,EAW95002,EAW95003,EAW95004,EAW95005,EAW95006,EAW95007,EAW95008,EAW95009,CAI61729,AAH02711,AAM21109,AAM21110,CAB57325,CAB57326,CAB57327,CAB57328,AAH03682,AAH18266,AAA52494,AAA52592,P60953,Q5JYX0,Q9UJM0,Q9UJM1,ABM82121,ABM85303 Hs.690198 GDB:127540 CDC42Hs|G25K protein-coding 1351605 CDC42BPA CDC42 binding protein kinase alpha (DMPK-like) The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. 9092543,9418861,17344417,16710414,16412980,15723050,12568720,12477932,12018391,11929873,11340065,11283256,10958655,10947843,10737800,10652353,10559936,10198171,9455484 8476 AK027000,AK130237,AY166586,BC008677,BC038993,BC047547,BC050335,BF765241,BQ232716,BX648219,BX648693,CR933723,U59305,NM_003607,AL353689,AL451047,AL627308,CH471098,AB007920,AB208968,AF250871,AJ518975,AJ518976,NM_014826 CAD57746,BAB15619,AAN86031,CAI45998,CAI46252,AAB37126,O75039,Q5HYB0,Q5T799,Q5T7A0,Q5T7A7,Q5VT25,Q8IWQ7,Q9H5K7,Q9NYF6,AAI56893,NP_055641,NP_003598,CAI19107,CAI19108,CAI19109,CAI19110,CAI19111,CAI19112,CAI19113,EAW69806,EAW69807,EAW69808,EAW69809,BAA32296,BAD92205,AAF66437,CAD57745 Hs.35433 GDB:9957405 DKFZp686L1738|DKFZp686P1738|FLJ23347|KIAA0451|MRCK|MRCKA|PK428 protein-coding 1351337 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. 9418861,17081983,15489334,12477932,12168954,10574461,10198171,17353931 9578 NM_006035,AL117209,AL133455,CH471061,DQ355971,AB032950,AF128625,BC047871,BC048261,BC155541,BX248752 NP_006026,EAW81800,EAW81801,ABC67469,BAA86438,AAD37506,AAH47871,AAH48261,AAI55542,CAD66559,Q86TR8,Q86XZ8,Q9Y5S2,AAI56937 Hs.654634 GDB:9957403 KIAA1124|MRCKB protein-coding 1350948 CDC42BPG CDC42 binding protein kinase gamma (DMPK-like) 15194684,9341881,9253601 55561 NM_017525,AP001187,CH471076,AF001543,AF001544,AY648038,BI793270,Y12337 NP_059995,EAW74316,AAT67172,CAA73006,Q6DT37 Hs.293590 DMPK2|HSMDPKIN|KAPPA-200|MRCKgamma protein-coding 1322427 CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. 1580863 11035016,17081983,16344560,16189514,15574879,15489334,15461802,15345747,12665801,12477932,10591208,10490598,10430899,1629197 11135 NM_152243,NM_007061,AL022315,CH471095,AK292190,BC009356,CR456524,DA047271,M88338 NP_689449,NP_008992,CAB42833,EAW60164,EAW60165,EAW60166,BAF84879,AAH09356,CAG30410,AAA36606,Q00587,CAK54555,CAK54854,ABM84385,ABM87281 Hs.225356 GDB:9956900 BORG5|CEP1|MGC15316|MSE55 protein-coding 1321045 CDC42EP2 CDC42 effector protein (Rho GTPase binding) 2 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of, CDC42. Coexpression of this protein with dominant negative mutant CDC42 protein in fibroblast was found to induce pseudopodia formation, which suggested a role of this protein in actin filament assembly and cell shape control. 1580863 11035016,10430899,11584266,16395716,15489334,14702039,12477932,10490598,9253601 10435 NM_006779,AF548903,AP000944,BC022337,BC075834,BT020004,CR609836,CR614190,CH471076,AF001436,AF098290,AF163840,AK098292 NP_006770,AAN39381,AAH22337,AAH75834,AAV38807,O14613,ABM82914,ABM86104,EAW74374,AAB81206,AAD16185,AAD48784 Hs.343380 GDB:9956998 BORG1|CEP2 protein-coding 1314141 CDC42EP3 CDC42 effector protein (Rho GTPase binding) 3 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of, CDC42. This protein can interact with CDC42, as well as with the ras homolog gene family, member Q (ARHQ/TC10). Expression of this protein in fibroblasts has been shown to induce pseudopodia formation. 11035016,11256614,17081983,16381901,16189514,16169070,15815621,15489336,15489334,15345747,14702039,12477932,11584266,11230166,11076863,10490598,9535835 10602 AF164118,AK128735,AL136842,AL538577,AL567387,BC019270,BQ432066,BT007190,CR603357,NM_006449,AC006369,CH471053,AF094521,AF104857 AAD48815,CAB66776,AAH19270,AAP35854,Q0JSH8,Q9UKI2,CAL38536,NP_006440,AAX93072,EAX00390,AAC71773,AAD16888 Hs.369574 GDB:9957980 BORG2|CEP3|FLJ46903|UB1 protein-coding 1323093 CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4 The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. 1580863 11035016,17081983,16189514,15761153,15489334,15226823,14702039,12477932,11185749,10490598 23580 NM_012121,AC087301,CH471099,AB042237,AF099664,AK027385,AK097835,AL162074,BC002774,BC010451,BE387060,BI560730 NP_036253,EAW89123,EAW89124,BAB17272,AAD16299,AAH02774,AAH10451,Q9H3Q1 Hs.176479 GDB:11510001 BORG4|CEP4|KAIA1777|MGC17125|MGC3740 protein-coding 1318117 CDC42EP5 CDC42 effector protein (Rho GTPase binding) 5 CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of, CDC42. The specific function of this protein has not yet been determined. 11035016,15489334,12477932,11584266,10490598 148170 NM_145057,AC008746,CH471135,CU467002,BC024327,BC065910,BQ677020 NP_659494,EAW72252,CAQ08958,AAH24327,AAH65910,Q6NZY7 Hs.415791 Borg3|CEP5|MGC21945|MGC71153 protein-coding 1343898 CDC42P1 cell division cycle 42 pseudogene 1 170503 NG_001032,AL356299 GDB:11505724 bK3216D2.3 pseudo 2293180 CDC42P2 cell division cycle 42 pseudogene 2 643336 XM_001717940,XM_001726350,XM_001718563,XM_001719976,NG_007652,AC099681,CH471201 XP_001717992,XP_001726402,XP_001718615,XP_001720028,EAW50974 pseudo 1346360 CDC42SE1 CDC42 small effector 1 1580863 10816584,15840583,15342556,12477932 56882 NM_020239,NM_001038707,AL590133,CH471121,AF187845,AF286041,AF286592,BC012796,BC041604,BP340339,BX339337,CR600921,CR601047,CR605469 NP_064624,NP_001033796,CAI13349,EAW53477,EAW53478,EAW53479,AAF87597,AAF97248,AAG17723,AAH12796,AAH41604,Q9NRR8,ABM85120 Hs.22065 SCIP1|SPEC1 protein-coding 1343863 CDC42SE2 CDC42 small effector 2 1580863 10816584,17030554,16344560,15840583,12477932,9110174,8619474 56990 NM_020240,NM_001038702,AC004777,AC008497,AC009016,AC114275,CH471062,AF131831,AF189692,AI440226,AK025620,BC023555,BC050430,BC058909,BC096703,BC096738,BC098349,BI460220,BI522591,CB135092,CR599493,CR626635,DA321488 NP_064625,NP_001033791,EAW62372,EAW62373,AAF87598,AAH96703,AAH96738,AAH98349,Q9NRR3 Hs.508829,Hs.653643 FLJ21967|SPEC2 protein-coding 1352573 CDC45L CDC45 cell division cycle 45-like (S. cerevisiae) The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Multiple polyadenlyation sites of this gene are reported. 1580863 10518787,12791985,9660782,15226314,15707391,18347181,17887956,17767920,17608804,17573775,17557111,17046832,16912045,15489334,15232106,12975309,12614612,12477932,10051334,9914182,9755170,9724329,16189514 8318 AJ223728,AY358971,BC006232,BC010022,BM751026,BT006792,CR591338,CR594150,CR603724,CR604288,CR608720,CR619108,CT841513,AF081535,NM_003504,AC000082,AC000087,AC000088,AY572790,CH471176,AF053074,AF062495 CAK54407,CAK54706,Q20WK8,ABM92238,ABM83577,ABM84716,ABM86816,AAD08998,CAA11530,AAQ89330,AAH06232,AAH10022,AAP35438,CAJ86443,O75419,NP_003495,AAS66985,EAX03036,AAC27289,AAC67521 Hs.474217 GDB:9864795 CDC45|CDC45L2|PORC-PI-1 protein-coding 731949 CDC5L CDC5 cell division cycle 5-like (S. pombe) The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. 8917598,15232106,17353931,18330920,17081983,16216881,15489334,15324660,14729942,14702039,14576297,14574404,14515018,12927788,12477932,12168954,11991638,11544257,11329013,11101529,11082045,10827081,10570151,9731529,9632794,9598309,9468527,9455477,9038199,1154257,16189514 988 NM_001253,AL133262,AL353588,AY518540,CH471081,AB007892,AK128737,BC001568,BG187521,BG497404,CR594844,D85423,U86753 NP_001244,CAI20149,CAI40750,AAR89913,EAX04270,BAA24862,AAH01568,BAA20885,AAB61210,Q99459,ABM82549,ABM85740 Hs.485471 GDB:6874493 CEF1|KIAA0432|PCDC5RP|dJ319D22.1|hCDC5 cell division cycle 5-like (s. pombe) protein-coding 1319341 CDC6 cell division cycle 6 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. 8990175,10995389,15232106,9566895,10339564,10436018,11095689,11125146,11931757,12045100,15226314,15707391,18048387,18006835,17689530,17567951,16801388,16572177,16439999,16055707,15887248,15696126,15590906,15489334,14749377,14672932,14517333,12912926,12614612,12554670,12538639,12477932,12429841,12151338,12006585,11846807,11779870,11346650,11046155,10899308,10629059,10464337,10214964,9925618,9889196,9857179,9778043,15050687,15684404,15861133,10766737,9520412,9774682 990 CH471152,CQ789346,AA210818,AF022109,BC025232,BE296640,BE548194,BF203219,CR598029,U77949,AB010492,AC080112,AJ009560,AY150310,NM_001254 AAN10296,EAW60650,EAW60651,CAG24445,AAC52071,AAH25232,AAB38317,Q99741,ABM83766,ABM87086,NP_001245 Hs.405958 GDB:9835142 CDC18L|HsCDC18|HsCDC6 cdc6 cell division cycle 6 homolog (s. cerevisiae) protein-coding 1318070 CDC7 cell division cycle 7 homolog (S. cerevisiae) The product encoded by this gene is predominantly localized in the nucleus and is a cell division cycle protein with kinase activity. Although expression levels of the protein appear to be constant throughout the cell cycle, the protein kinase activity appears to increase during S phase. It has been suggested that the protein is essential for initiation of DNA replication and that it plays a role in regulating cell cycle progression. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Additional transcript sizes have been detected, suggesting the presence of alternative splicing. 1580863 15232106,12791985,9405610,17102137,9250678,10846177,15226314,15707391,17711849,17062569,17046832,16899510,16864800,16826239,16710414,16446360,16082200,15668232,15489334,15474462,15466207,12614612,12477932,12065429,11568184,10523313,10373557,9573348 8317 BC111044,NM_003503,AC021075,AC098691,AL355871,AY585721,CH471097,AB003698,AB209337,AF005209,AF015592,AY312583,BC110526,BC110527 AAI10528,AAI11045,O00311,Q59FX2,Q5T5U4,Q6JSD6,NP_003494,AAS79323,EAW73114,EAW73115,BAA19962,BAD92574,AAB97512,AAC52080,AAR16187,AAI10527 Hs.533573 CDC7L1|HsCDC7|Hsk1|MGC117361|MGC126237|MGC126238|huCDC7 cdc7 cell division cycle 7 (s. cerevisiae) protein-coding 1323393 CDC73 cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) Parafibromin, LEO1 (MIM 610507), PAF1 (MIM 610506), and CTR9 (MIM 609366) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM] 16630820,17113272,18436011,18217513,18080135,17923126,17555500,17404568,17314275,17138574,17130827,16989776,16728578,16710414,16448924,16116486,16061557,15956079,15923622,15635413,15632063,15613436,15580289,15531515,15489334,15070940,15046109,15046107,15046105,15046102,15046098,15046094,15046050,14985403,14985373,14715834,14702039,14585940,12960210,12477932,12434154,11951180,11318611,9373149,8125298,7717405 79577 NM_024529,AL139133,AL390863,CH471067,AF312865,AK026969,AK226038,BC007325,BC013075,BC014351,BC065037,BM471846,BU428536 NP_078805,CAH71589,EAW91250,AAG45339,BAB15608,AAH07325,AAH14351,AAH65037,Q6P1J9,Q6PHR8 Hs.576497 GDB:125253 C1orf28|FLJ23316|HPT-JT|HRPT2 protein-coding 1322226 CDCA2 cell division cycle associated 2 16492807,14702039,12477932,12188893 157313 NM_152562,AC103779,AK092164,AK098670,AK292505,AL833396,AL833627,BC015691,BC036214,BC063651,BC085609,BC104450,BC104451,BG354575,BG716934,BM802460,BX649008,R95735 NP_689775,BAC05374,BAF85194,CAH10585,CAH10577,AAH36214,AAH63651,AAH85609,AAI04451,AAI04452,Q69YH5 Hs.33366 GDB:11505730 FLJ25804|MGC129906|MGC129907|Repo-Man protein-coding 1345166 CDCA3 cell division cycle associated 3 16189514,15733861,14702039,12679038,12477932,12188893,9074930,8723724 83461 NM_031299,CH471116,CS185564,U47924,AK092246,AK291421,AK312843,BC002551,BC036512,CD106434,CR621398 NP_112589,EAW88728,EAW88729,CAJ42745,AAB51327,BAF84110,BAG35696,AAH02551,AAH36512,Q99618 Hs.524216 GDB:11505732 GRCC8|MGC2577|TOME-1 protein-coding 1348557 CDCA4 cell division cycle associated 4 The function of this gene is not known, but its existence is supported by mRNAs and EST data. A similar gene in mice was found to be expressed preferentially in hematopoietic progenitors and mature blood cells. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. 16984923,15489334,14702039,12477932,12188893,11482882 55038 AL512802,CH471061,AF322239,AK000771,BC011736,BC025263,NM_017955,NM_145701,AL512356,BG354577,BG703331,CR594141,CR601657,CR605313,CR606097,CR607330,CR620051 EAW81894,EAW81895,EAW81896,EAW81897,AAK31075,BAA91373,AAH11736,NP_060425,NP_663747,Q9BXL8,ABM84334,ABM87725,AAH25263 Hs.34045 GDB:11505734 FLJ20764|HEPP|MGC19517 protein-coding 1350338 CDCA5 cell division cycle associated 5 1580863 15837422,17361102,17349791,17081983,16964243,15489334,15146197,14702039,12477932,12188893 113130 NM_080668,AP003068,CH471076,AK093670,AK291490,AL832526,BC011000,CN332525,CR614636 NP_542399,EAW74342,EAW74343,BAF84179,AAH11000,Q96FF9,ABM84177,ABM87579 Hs.434886 GDB:11505736 MGC16386|SORORIN protein-coding 1353399 CDCA6 cell division cycle associated 6 BG354579 GDB:11508683 1319671 CDCA7 cell division cycle associated 7 This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. 11598121,16580749,16344560,15994934,15815621,15489334,14702039,12477932,12188893,9373149,8125298 83879 NM_031942,NM_145810,AC092573,CH471058,AK027628,AK027642,AK075134,AK223524,AL833728,AL834186,AY029179,BC015124,BC027966,CR612922,CR619535,DA531905 NP_114148,NP_665809,AAX82003,EAX11158,EAX11159,EAX11160,EAX11161,BAB55245,BAB55258,BAC11425,BAD97244,CAH56253,CAH56357,AAK31591,AAH15124,AAH27966,Q9BWT1 Hs.470654 GDB:11505738 FLJ14722|FLJ14736|JPO1|MGC34109 protein-coding 1602109 CDCA7L cell division cycle associated 7-like 17669426,17081983,16829576,16735438,16728402,16565220,15994933,15654081,15489334,14702039,12853948,12690205,12477932,7829101 55536 NM_018719,NM_001127370,NM_001127371,AC074379,AC099653,CH236948,CH471073,AK022955,AK095965,AK292490,AL359619,AY161168,AY161169,BC009352,BC014630,BC025242,BC032576,BC039823,BI493265,BX112809,DC331792 NP_061189,NP_001120842,NP_001120843,AAS02007,EAL24271,EAW93740,EAW93741,EAW93742,EAW93743,EAW93744,BAB14330,BAF85179,CAB94887,AAO17570,AAO17571,AAH09352,AAH14630,AAH25242,AAH32576,AAH39823,Q96GN5 Hs.520245 DKFZp762L0311|JPO2|R1|RAM2 protein-coding 1346860 CDCA8 cell division cycle associated 8 CDCA8 is a component of a chromosomal passenger complex required for stability of the bipolar mitotic spindle (Gassmann et al., 2004 [PubMed 15249581]).[supplied by OMIM] 16239925,16291752,17956729,17881355,17716930,17483322,17241471,16571674,16565220,16547492,16436504,16427043,15635413,15561729,15489334,15260989,15249581,14702039,12477932,12188893,9373149,8125298 55143 CR617852,AC104336,CH471059,AK001330,AK022104,AK022606,AK026423,AK222549,AK222568,AK291917,AY508815,BC000703,BC001651,BC008079,BC016944,NM_018101 AAH16944,Q53HL2,NP_060571,EAX07324,EAX07325,BAA91629,BAB13961,BAB14125,BAD96269,BAD96288,BAF84606,AAR91699,AAH00703,AAH01651,AAH08079 Hs.524571 GDB:11505740 BOR|BOREALIN|FLJ10468|FLJ12042 protein-coding 1601855 CDCP1 CUB domain containing protein 1 The protein encoded by this gene is a transmembrane protein containing three extracellular CUB domains. This protein is found to be overexpressed in colon and lung cancers. Its expression level is correlated with the metastatic ability of carcinoma cells. This protein is located on the cell surface. It has been shown to be tyrosine phosphorylated in a cancer cell line. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 18269919,17785447,17335815,16926850,16404722,16007225,15851033,15489334,15153610,14739293,14702039,12975309,12799299,12660814,12477932,11466621,8647901 64866 NM_022842,NM_178181,AC104165,AC105902,CH471055,AF468010,AK023834,AK026187,AK026329,AK026622,AY026461,AY167484,AY358779,AY375452,BC021099,BC069254 NP_073753,NP_835488,EAW64737,EAW64738,AAO33397,BAB14695,BAB15388,BAB15511,AAK02058,AAO34538,AAQ89139,AAR21289,AAH21099,AAH69254,Q9H5V8,AAI48606,AAI53170 Hs.476093 CD318|SIMA135|TRASK protein-coding 1603885 CDCP2 CUB domain containing protein 2 17388942,12477932 200008 NM_201546,AL357673,CH471059,CQ725837 NP_963840,CAH73896,EAX06701,Q5VXM1,AAI41441 Hs.568555 protein-coding 1606256 CDGAP Cdc42 GTPase-activating protein This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. 17158447,16519628,15761153,12477932,11744688,10574462,9786927,8889548 57514 NM_020754,NG_007665,AC092981,CH471052,AB033030,AK026689,BC112163,BC112165,BM970175 NP_065805,EAW79573,EAW79574,BAA86518,AAI12164,AAI12166,Q2M1Z3 Hs.633670,Hs.657263 KIAA1204|MGC138368|MGC138370 protein-coding 737413 CDH1 cadherin 1, type 1, E-cadherin (epithelial) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. 1599556,1599548,1599549,1580863,2289479,2289488,2289491,2289492,2289494,2289497,2289447,2289450,2289487,2289489,2289490,2289493,2289498,2289638,2289457 16338932,8033105,11076937,18482459,18468719,18393242,18384629,18379416,18377425,18342884,18342503,18339843,18330089,18321996,18312357,18276111,18256147,18245470,18242180,18235976,18234642,18223216,18197935,18196581,18192886,18187454,18174259,18097581,18095267,18065418,18062917,18057010,18036402,18035404,18008331,18006853,17991426,17982235,17981184,17971340,17960794,17960397,17959171,17940061,17906660,17905526,17873891,17852867,17850815,17845801,17828401,17804733,17786966,17785436,17764657,17761538,17760721,17719574,17715295,17708604,17689924,17689538,17685455,17671701,17668349,17663505,17660459,17660246,17656222,17652530,17649807,17647062,17646933,17645803,17627624,17627168,17623668,17620337,17617594,17611682,17608733,17605082,17593336,17576040,17553930,17549573,17548604,17548247,17545690,17520682,17509026,17507638,17504810,17502486,17437014,17434710,17431390,17429067,17396032,17392517,17383595,17383052,17341890,17339363,17325197,17294073,17274640,17272646,17261850,17242406,17237808,17224907,17221870,17214852,17203182,17202846,17201188,17146437,17138130,17130831,17126523,17062664,17060906,17060462,17050668,17043655,17031402,17016656,17015477,17013088,16949915,16948518,16934975,16932944,16930554,16930538,16929514,16924464,16922727,16909210,16907861,16870389,16865770,16830381,16826427,16819153,16813949,16804902,16801346,16799706,16786001,16761612,16760429,16714334,16702959,16699861,16685438,16682529,16614715,16608875,16596173,16574648,16502042,16495925,16474379,16447040,16426911,16417575,16390868,16373333,16372334,16368435,16367920,16344308,16333245,16327305,16301117,16276119,16247464,16237750,16226258,16226102,16219695,16215948,16199889,16189707,16172196,16152579,16142450,16142373,16138013,16132582,16127748,16126725,16123095,16061854,16061479,16007161,16002701,15958533,15943036,15937692,15930343,15928314,15890089,15857834,15831593,15824172,15809746,15780560,15777972,15750927,15741307,15718252,15713751,15709186,15696778,15696125,15695390,15693887,15689490,15689411,15671768,15660698,15647282,15638379,14734465,14729585,14699157,14695147,14681060,14675278,14661064,14637149,14610318,14599963,14595118,14585958,14567991,14559984,14559901,14532995,14511406,14507651,14501773,14158754,12949051,12937339,12923325,12908778,12890751,12875984,12857907,12851691,12824891,12810698,12808048,12800196,12797865,12786894,12767511,12759241,12740491,12725331,12712492,12694354,12672818,12668723,12665652,12657640,12655059,12647217,12639940,12629411,12606944,12588804,12587534,12579297,12560341,12532469,12532436,12532420,12532418,12531901,12526809,12517779,12511569,12481018,12477932,12452045,12444556,12427869,12414996,12409468,12398810,12397640,12393869,12391156,12370292,12219004,12216071,12209998,12209606,12203775,12203370,12198663,12189238,12169098,12161443,12140137,12138162,12134161,12127160,12115723,12095414,12082610,12061792,12057916,12049819,12037667,14742711,15609397,15609326,15609307,15588985,15561585,15561102,15542832,15509650,15500294,15467754,15457549,15389640,15330449,15328195,15328184,15311212,15308209,15289833,15285029,15274329,15259055,15254707,15254236,15251938,15235021,15231691,15194432,15178462,15161659,15153430,15144564,15140023,15102690,15102685,15084762,15075377,15075229,15033487,15024035,14998854,14991757,14981918,14977637,14961571,14767510,14760942,14750169,14750164,12036913,12027444,12021924,11996968,11968083,11953314,11948460,11937138,11920500,11916976,11912130,11896626,11882288,11870667,11861761,11857408,11856755,11846558,11839665,11836526,11821434,11813884,11801604,11790800,11747475,11733362,11705864,11683173,11562785,11443625,11419427,11401320,11274246,11226248,11179419,11158177,11136230,11104024,11080149,11058098,11035789,10969083,10963665,10959047,10950951,10931041,10896919,10837471,10790430,10713718,10698519,10671552,10652321,10635315,10629228,10608854,10597309,10523846,10500174,10477433,10462524,10409703,10319582,10225956,10202138,10072428,9971746,9925936,9751616,9744472,9721589,9632747,9615235,9537325,9531566,9512503,9214391,9045944,8985087,8797891,8557030,8549695,8459805,8207061,8185635,8127895,8093045,8075649,7961105,7890674,7824937,7651399,7642713,7601454,7559781,7543680,3263290,2349235,2224804,1639850,1606546,12634428,12615965,12640114,12707304,9535896,9130654,7542250,12830000,11712088,11254878,11245482,9819408,9405455,7954478,12956947,11459826,10744074,8074697,12434297,15388328,10910767,15542433,15311210,15674322,15294866,14706341,15023525 1599556,1599548,1599549,2289479,2289488,2289491,2289492,2289494,2289497,2289447,2289450,2289487,2289489,2289490,2289493,2289498,2289638,2289457 999 NM_004360,AC099314,CH471092,D49685,DQ090940,L34545,L34789,S72492,Z35402,AB025105,AB025106,AI890107,AK290012,AK312551,BC013851,BC141838,BC146662,L08599,X12790,X52279,Z13009,Z18923 NP_004351,EAW83242,EAW83243,EAW83244,EAW83245,BAA08537,AAY68225,AAA21764,AAD14108,CAA84586,BAA88956,BAA88957,BAF82701,BAG35448,AAI41839,AAI46663,AAA61259,CAA31279,CAA36522,CAA78353,CAA79356,P12830,Q9UII7,Q9UII8 Hs.461086 GDB:120484 Arc-1|CD324|CDHE|ECAD|LCAM|UVO cadherin 1 protein-coding 1350088 CDH10 cadherin 10, type 2 (T2-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. 1580863 12389209,10861224,10386616,2059658 1008 NM_006727,AC010387,AC091885,CH471118,AB035303,CR615281 NP_006718,EAX10742,BAA87417,Q9Y6N8,AAI52829,AAI56819 Hs.92489 GDB:5822913 protein-coding 1351773 CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. 1580863 8163513,18359978,17292535,16651616,15743489,15509545,15383628,14985702,14625392,12477932,11775026,10760957,10550312,10398117,10320525,10029089,9615235,9520111,7982033,2059658 1009 NM_001797,AC010533,AC137643,AF060369,AF060370,CH471092,AB209760,AK291251,BC013609,D21254,D21255,L34056 NP_001788,AAD27755,AAD27756,EAW83000,EAW83001,EAW83002,BAD92997,BAF83940,AAH13609,BAA04798,BAA04799,AAA35622,P55287,Q59EQ1,Q96CZ9 Hs.116471 GDB:512891 CAD11|CDHOB|OB|OSF-4 protein-coding 1343875 CDH12 cadherin 12, type 2 (N-cadherin 2) This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. 1580863 14702039,12477932,10861224,10191097,9615235,9122206,7982033,7731968,7545953,2059658,1436057 1010 NM_004061,AC022139,AC026716,AC091938,AC093263,AC108089,AC109455,AC138854,AC138940,AC139497,AC140132,AC140171,CH471118,Z16831,AK092176,BC047608,L33477,L34057,AC034239 NP_004052,EAX10734,EAX10735,EAX10736,AAH47608,AAB48539,AAA35623,P55289 Hs.113684 GDB:596324 CDHB|FLJ34857 2292817 MAMTS101_H protein-coding 1344160 CDH12P cadherin 12 (N-cadherin 2) pseudogene 10369862,7731968 1011 NR_002209,NG_007326,AC004999,AC139277,AC146335 GDB:696362 C41-CAD pseudo 734374 CDH13 cadherin 13, H-cadherin (heart) This gene is a member of the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region but, unlike the typical cadherin superfamily member, lacks the highly conserved cytoplasmic region. This particular cadherin is a putative mediator of cell-cell interaction in the heart and may act as a negative regulator of neural cell growth. The gene locus is hypermethylated or deleted in breast, ovarian and lung cancers. Two major mRNA transcripts encoding identical proteins are found, products of alternative polyadenylation sites. 734735,1580863,734736 10601632,16013438,15703273,14729458,15816843,17573778,10737605,15364621,16099944,16873731,9650591,18337602,18264096,17967182,17960794,17873891,17765896,17094449,17077306,16602701,16344560,16335952,16222700,16133358,15821437,15489334,15292927,15251938,15210937,15146197,14997203,14750164,14718574,14579115,12697869,12489108,12477932,12177241,12067979,12060406,11642747,11326751,11027617,9852687,9737784,9615235,9468307,8673923,7982033,2059658 734735,734736 1012 NM_001257,AB001103,AC009028,AC009063,AC009119,AC009142,AC087189,AC092340,AC092351,AC098804,AC099506,AC106814,AC125793,CH471114,AI802411,AU123178,BC012615,BC028624,BC030653,CK725094,CN263227,EU190357,EU190358,L34058,U59288 NP_001248,BAA32411,EAW95515,AAH28624,AAH30653,ABW97440,ABW97441,AAA35624,AAB18911,P55290,ABM82639,ABM85816 Hs.654386 GDB:5822917 CDHH cadherin 13 protein-coding 1353127 CDH15 cadherin 15, M-cadherin (myotubule) This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. 1580863 9545347,15489334,12634428,12477932,12052883,11136230,11058098,10861224,9615235,9168809,9030594,8059975,1840697,1427864 1013 NM_004933,AC009113,CH471184,AW452260,BC008951,D83542 NP_004924,EAW66741,EAW66742,AAH08951,BAA12012,P55291,ABM84203,ABM87607 Hs.148090 GDB:391031 CDH14|CDH3|CDHM|MCAD protein-coding 1323200 CDH16 cadherin 16, KSP-cadherin This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. 1580863 9721215,18343407,17895753,15886705,15670782,15489334,15023525,12975309,12851251,12477932,10828602,10409308,9373149,8125298,7615566 1014 NM_004062,AC009084,CH471092,AF016272,AI733140,AK075243,AK225544,AK225552,AY358911,BC027912,BI759247 NP_004053,EAW83050,EAW83051,EAW83052,AAC34255,AAQ89270,AAH27912,O75309,ABM84733,ABW03631 Hs.513660 GDB:5822919 protein-coding 733806 CDH17 cadherin 17, LI cadherin (liver-intestine) This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. 1580863 8153632,18342884,17828401,16951245,15701831,15302935,15279905,15178443,12824888,12477932,11413113,11337467,11193569,10191097,9615235,603017,15023525 1015 NM_004063,AP003351,AP003478,CH471060,CS223371,AI566493,AK130441,AU098586,BC112013,BC113464,U07969,X83228 NP_004054,EAW91708,CAJ46925,AAI12014,AAI13465,AAA19021,CAA58231,Q12864,Q2M2E0 Hs.591853 GDB:5822918 CDH16|FLJ26931|HPT-1|HPT1|MGC138218|MGC142024 cadherin 17 protein-coding 1313454 CDH18 cadherin 18, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. 1580863 12477932,10861224,10207020,10191097,9030594,16189514 1016 NM_004934,AC025173,AC093221,AC108128,AC113397,AC118463,CH471168,AK289547,BC031051,BI549773,U59325 NP_004925,EAW68851,BAF82236,AAH31051,AAB02933,Q13634,ABM84477,ABM84862 Hs.317632 GDB:6277917 CDH14|CDH14L|CDH24|EY-CADHERIN protein-coding 1316200 CDH19 cadherin 19, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. 1580863 12975309,12477932,10995570,10861224,9615235,7566098,16189514 28513 AY358654,BC015877,NM_021153,AC090393,AC091643,CH471096,AA331759,AF047826,AJ007607 CAC13126,AAQ89017,AAH15877,O60574,Q96KY9,Q9H159,NP_066976,EAW63178,AAC05117 Hs.42771 GDB:10013818 CDH7|CDH7L2 protein-coding 731820 CDH2 cadherin 2, type 1, N-cadherin (neuronal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. The protein functions during gastrulation and is required for establishment of left-right asymmetry. At certain central nervous system synapses, presynaptic to postsynaptic adhesion is mediated at least in part by this gene product. 734737,1580863,1582675 15701645,15648948,15541732,15527101,15355896,15331629,15263022,15252840,15217949,15192701,15153430,14675278,14625392,14559901,14515347,13678586,12634428,12604612,12545205,12531901,12503652,12477932,12398894,12377785,12151522,12095980,12057916,11996105,11821434,11790800,11729199,11329013,11136230,11058098,10862698,10818391,10662782,9971746,9615235,9542583,9508779,9199196,9168198,7995652,7959764,7731968,2216790,1639850,2384753,18362184,18269586,17868645,17646933,17512904,17389597,17348027,17255093,17229887,17178870,17171299,17060906,17031402,17008425,16969099,16819153,16707106,16675571,16596172,16371504,16258702,16212419,16173043,16149052,16091424,16007225,15987741,15855653,15774907,15731052,15713751,1500442,12639940,12615965,12438242 734737,1582675 1000 BC021695,BC036470,BG197310,M34064,S42303,X54315,X57548,NM_001792,AC006249,AC015933,AC110015,CH471088,Z27420,AI675151,AI752180,AW016710 AAH36470,AAA03236,AAB22854,CAA38213,CAA40773,NP_001783,EAX01239,EAX01240,EAX01241,CAA81799,P19022 Hs.464829,Hs.606106 GDB:128185 CD325|CDHN|CDw325|NCAD cadherin 2 protein-coding 1313468 CDH20 cadherin 20, type 2 This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. 14702039,12477932,10995570 28316 AC006203,AC090409,CH471096,AF217289,AK094366,AK290190,BC101047,BC101048,BC101049,NM_031891 EAW63108,AAG23739,BAC04340,BAF82879,AAI01048,AAI01049,AAI01050,Q495S3,Q8N9J3,Q9HBT6,NP_114097 Hs.671510 GDB:10013820 CDH7L3|Cdh7|FLJ37047 protein-coding 732591 CDH22 cadherin-like 22 This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. 69804,1580863 12630923,12477932,11780052,9110174,8626716,8619474 69804 64405 NM_021248,AL031687,CH471077,AF035300,AK289584,BC031232,BC039056 NP_067071,CAB51587,EAW75754,EAW75755,AAB88183,BAF82273,AAH31232,Q49AS4,Q9UJ99 Hs.472861 GDB:11505742 C20orf25|MGC39564|dJ998H6.1 cadherin 22 protein-coding 733851 CDH23 cadherin-like 23 This gene is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene. Two alternative splice variants have been identified, encoding different isoforms. Additional variants have been observed but their full-length nature has not been determined. 737781,704405,1580863,704404 11138009,16679490,18484607,18323324,18273900,17850630,17672918,16598924,16550584,15882574,15829536,15660226,15537665,14702039,12975309,12588794,12522556,12477932,12407180,12075507,11857743,11597768,11386759,11347906,12485990,11138008,11090341,8894709,8889548,8817348,2706105,16189514 737781 64072 NM_022124,NM_052836,AC012469,AL359183,AL731541,AL772287,CH471083,AB053445,AB058715,AF312024,AK074160,AK093818,AL122081,AY010111,AY358617,AY563161,AY563162,AY563165,AY563166,BC011570,BC032581,BC065284,BC139903,BU728250,BC108254 NP_071407,NP_443068,CAI13625,CAI13626,EAW54426,EAW54427,EAW54428,EAW54429,EAW54430,EAW54431,EAW54432,BAB61902,BAB47441,AAG48303,BAB84986,BAC04231,CAB59256,AAG27034,AAQ88980,AAT72161,AAT72162,AAT72165,AAT72166,AAH11570,AAH32581,AAH65284,AAI08255,AAI39904,Q32P55,Q5JQ35,Q5QGS1,Q5QGS2,Q5QGS5,Q5QGS6,Q5SQD0,Q5SQD1,Q5XKN2,Q6P152,Q8N1Z7,Q8N5B3,Q8TEG4,Q96JL3,Q9H251,Q9UFG9 Hs.656032 GDB:1391799 DFNB12|DKFZp434P2350|FLJ00233|FLJ36499|KIAA1774|KIAA1812|MGC102761|USH1D cadherin related 23 protein-coding 1353170 CDH24 cadherin-like 24 1580863 12734196,12975309,12477932 64403 NM_144985,NM_022478,AL132780,CH471078,AK025342,AK057922,AK289576,AL137477,AY260900,AY260901,AY358199,BC009332,BC019067,BC069190,BC094810,BC110867,BC142724,BX248303,BX248750,CR623889 NP_659422,NP_071923,EAW66189,EAW66190,EAW66191,EAW66192,BAB15116,BAB71613,BAF82265,CAB70758,AAP20590,AAP20591,AAQ88566,AAH94810,AAI10868,CAD62630,CAD66557,Q2TAL1,Q4VBZ5,Q7Z768,Q86T00,Q86TS8,Q86UP0,Q96LQ7,Q9H6Y4 Hs.155912 GDB:11508551 CDH11L|FLJ25193|MGC131880 protein-coding 1323191 CDH26 cadherin-like 26 Cadherins are a family of adhesion molecules that mediate Ca2+-dependent cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization and migration. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This gene encodes a cadherin domain-containing protein whose specific function has not yet been determined. Alternative splicing occurs at this locus and two transcript variants, encoding distinct proteins, have been identified. 14702039,12477932,11780052,10835267 60437 NM_177980,NM_021810,AL109928,CH471077,AA454986,AF169690,AK055202,AK074477,BC062570,CR624927 NP_817089,NP_068582,CAB92092,CAD55556,CAD55557,EAW75417,EAW75418,EAW75419,EAW75420,EAW75421,EAW75422,EAW75423,AAF89687,BAB85093,AAH62570,Q8IXH8,Q9NTY2 Hs.54973 GDB:11505744 VR20 protein-coding 1353368 CDH3 cadherin 3, type 1, P-cadherin (placental) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been associated with congential hypotrichosis with juvenile macular dystrophy. 1600806,1600801,1580863 2793940,18330089,18329483,18230143,18199584,18074863,17342797,16115928,16007225,15967043,15817166,15805154,15489334,15375751,15146197,12919105,12876286,12800191,12477932,12445216,12417987,12112590,12021924,11909859,11891861,11889072,11544476,11401672,11106563,10655458,10381631,9815605,9615235,9373149,9359492,9250159,8660921,8227214,8125298,8074995,8056851,7538474,7534041,2702654,1924379,1427864,15331416,10910767,11066045 1600806,1600801 1001 NM_001793,AC099314,AC126773,CH471092,CS174724,X95824,AI149268,AK225396,BC014462,BC041846,BQ945506,BU543746,CA489015,CA489338,CA489357,CN365479,X63629 NP_001784,EAW83237,EAW83238,EAW83239,CAJ34555,CAA65093,AAH14462,AAH41846,CAA45177,P22223 Hs.709226 GDB:132860 CDHP|HJMD|PCAD protein-coding 1343938 CDH4 cadherin 4, type 1, R-cadherin (retinal) This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. 1580863 10760957,2059658,16786001,15548679,15489334,15143071,14702039,12477932,11780052,10799302,10662782,10516427,10191097,7982033,798233 1002 AL834206,NM_001794,AL079336,AL109911,AL160412,AL162457,AL365229,AL365401,AL391316,AL450463,BX640515,CH471077,AI422259,AK025855,AK091496,AK092092,AK124724,BC101651,BC112150,L34059 P55283,Q8NB64,Q8ND09,Q9H6K0,CAD38893,NP_001785,EAW75408,EAW75409,EAW75410,BAB15259,BAC03677,AAI01652,AAI12151,AAA35627 Hs.473231,Hs.598638 GDB:622850 CAD4|FLJ22202|FLJ40547|MGC126700|MGC138355|RCAD protein-coding 1316530 CDH5 cadherin 5, type 2, VE-cadherin (vascular epithelium) This gene is a classical cadherin from the cadherin superfamily and is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classic cadherin by imparting to cells the ability to adhere in a homophilic manner, the protein may play an important role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions. An alternative splice variant has been described but its full length sequence has not been determined. 1598391,1580863 9219219,18337748,18316602,18272754,18195090,18180305,18163230,17761936,17638851,17194459,17159998,17060906,17057644,16909109,16893970,16481735,16335952,16322481,16115630,16027153,15980433,15897346,15861137,15735710,15731052,15601837,15572031,15374707,15220112,14699141,14695457,14678493,12740216,12658549,12626512,12595527,12584244,12584200,12477932,12426320,12413882,12393634,12243749,12234928,12219009,12130501,12095140,12088286,12010652,12003790,11950930,11950700,11937138,11900554,11855855,11777950,11490021,10861224,10681592,10428027,10063232,9739078,9615235,9378757,7627717,2059658,1522121,9434630,15723073 1598391 1003 NM_001795,AC132186,CH471092,AB035304,AB209908,BC096363,BC096364,BC096365,BC117520,CR595820,CR604654,DC381809,U84722,X59796,X79981 NP_001786,EAW83009,BAA87418,BAD93145,AAH96363,AAH96364,AAH96365,AAI17521,AAB41796,CAA42468,CAA56306,P33151,Q4VAI4,Q4VAI5,Q4VAI6,Q59EA3 Hs.76206 GDB:134230 7B4|CD144|FLJ17376 protein-coding 735712 CDH6 cadherin 6, type 2, K-cadherin (fetal kidney) This gene encodes a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. Strong transcriptional expression of this gene has been observed in hepatocellular and renal carcinoma cell lines, suggesting a possible role in metastasis and invasion. 1580863 7743525,16344560,16335952,15489334,12477932,10861224,10207020,10191097,9615235,9520111,9506208,9205085,2059658,16189514 1004 NM_004932,AC091898,AC113386,CH471118,AK291290,AU130185,BC000019,D31784 NP_004923,EAX10763,EAX10764,EAX10765,BAF83979,AAH00019,BAA06562,P55285 Hs.171054 GDB:5822908 KCAD protein-coding 1315712 CDH7 cadherin 7, type 2 This gene is a type II classical cadherin from the cadherin superfamily. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types and the maintenance of orderly structures. Alternative splicing in the 5' UTR of this gene yields variant transcripts encoding the same protein. 1580863 15273735,12477932,10995570,10861224,9615235 1005 NM_004361,AC023394,AC090358,CH471096,NM_033646,AB035301,AJ007611,BC036786 NP_387450,NP_004352,EAW63173,EAW63174,EAW63175,BAA87415,CAC13127,AAH36786,Q8IY78,Q9ULB5 Hs.657522 GDB:5822910 CDH7L1 protein-coding 735375 CDH8 cadherin 8, type 2 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. 1580863 2059658,15489334,14702039,12477932,12209956,10861224,9615235,9521872,7982033 1006 NM_001796,AC012174,AC040161,AC092124,AC092125,AC092129,CH471092,AB035305,AB074170,AK124734,BC113416,L34060,R34732 NP_001787,EAW82994,EAW82995,BAA87419,BAE45735,AAI13417,AAA35628,P55286,Q3LID3 Hs.368322 GDB:5822911 Nbla04261 cadherin 8 protein-coding 1354185 CDH9 cadherin 9, type 2 (T1-cadherin) This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. 1580863 16344560,15489334,12477932,10861224,10835267,2059658 1007 CH471118,AB035302,BC107594,BC109384,BC113745,DA165253,NM_016279,AC010470,AC022450 EAX10746,EAX10747,EAX10748,BAA87416,AAI07595,AAI09385,AAI13746,Q32LY1,Q9ULB4,NP_057363 Hs.272212 GDB:5822912 MGC125386 protein-coding 736670 CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase) Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. 9407135,16312203,15489334,14702039,12477932,9373149,9370331,8125298,8110188,14743216 10423 NM_006319,AC120114,CH471238,AF014807,AK094468,AK097691,AK131227,AK131349,AK222676,AK290632,AL050383,BC001444,BI490060,CR542016,CR591018,CR592536,CR594410,CR595201,CR597373,CR597610,CR597859,CR604201,CR605664,CR608164,CR609816,CR611207,CR611467,CR613009,CR615041,CR616216,CR616565,CR618421,CR618769,BT007301,CR622528,CR624862,CR626409 NP_006310,EAW79976,EAW79977,EAW79978,AAB94860,BAD18505,BAD96396,BAF83321,AAH01444,AAP35965,CAG46813,O14735,Q53HA5 Hs.121549 GDB:9956964 MGC1328|PIS|PIS1 protein-coding 1312526 CDK10 cyclin-dependent kinase 10 The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been found for this gene. 1580863 8084611,18242510,8208557,17192257,16381901,15489336,15489334,12477932,11313931,11076863,11006117,10036189,8889548,7882308,7664269 8558 NM_052987,NM_001098533,AC010538,AJ010341,CH471184,AB209829,AF153430,AK075036,AK131531,AK290485,AK292351,BC017342,BC025301,BC032704,BC093028,BM720563,BQ184950,CR595282,CR595651,CR599641,CR602954,CR612010,CR615113,CR617735,CR624710,CX867290,NM_052988,DC362478,L33264,X78342 NP_443714,NP_443713,NP_001092003,CAB37619,EAW66700,EAW66701,EAW66702,EAW66703,EAW66704,EAW66705,EAW66706,EAW66707,EAW66708,EAW66709,EAW66710,EAW66711,BAD93066,AAF18371,BAF83174,BAF85040,AAH17342,AAH25301,AAA60092,CAA55137,Q15131,Q59EI2,Q9UHL7,CAL37781,CAL38055,CAL38082 Hs.699177 GDB:636179 PISSLRE protein-coding 1352010 CDK2 cyclin-dependent kinase 2 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein kinase is highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2. It is a catalytic subunit of the cyclin-dependent protein kinase complex, whose activity is restricted to the G1-S phase, and essential for cell cycle G1/S phase transition. This protein associates with and regulated by the regulatory subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A) and p27Kip1 (CDKN1B). Its activity is also regulated by its protein phosphorylation. Two alternatively spliced variants and multiple transcription initiation sites of this gene have been reported. 1580863 18174243,18156799,18042686,17713927,17638878,17495531,17409409,17386261,17371838,17361108,17293600,17207508,17192257,17095507,17038621,17013093,17001081,16912201,16912045,16824683,16765349,16762841,16707497,16582606,16575928,16540140,16519687,16517729,14597612,14562046,14551212,14550307,14536078,14506259,12972555,12954644,12947099,12915577,12912980,12857729,12853968,12839982,12839962,12810668,12801928,12800980,12745075,12732645,12729791,12676926,12676582,12560341,12531694,12477932,12388094,12361598,12239611,12185076,12149264,12140288,12114499,12096339,12081504,12064478,12049628,12036888,11980914,11953320,11884610,11781834,11781350,11698641,11684017,11532001,11463386,11395479,11310559,11278991,11259605,11238922,11175348,11113184,11102515,11076863,11042687,10995386,10938106,10938080,10934208,10930425,10924145,10908655,10884347,10878006,10846177,10827081,10748174,10747897,10639311,10602502,10593981,10559988,10432313,10386600,10373534,16504183,16458891,16407256,16381901,16376875,16343435,16262700,16258277,16174846,16150942,16085226,16082227,16082200,16036217,16027724,15964852,15944161,15922732,15890360,15707957,15695825,15671017,15665273,15660127,15649889,15635413,15632290,15619620,15611625,15611077,15607961,15601848,15572662,15489336,15489334,15456866,15355984,15309028,15302935,15241418,15232106,15226429,15199159,15178429,15159402,15144186,15063782,15030318,15024385,15024056,15004027,14993212,14985333,14701826,14694185,14646596,14645251,14615539,14612403,10548110,1653904,8692841,17353931,10767298,9933170,1312467,7799941,9840943,11907280,1396589,7629134,10323868,10339564,10454565,11231585,11340163,11931757,15226314,15707391,16109376,18281541,18202766,18199752,10348343,10207050,10202152,10095772,10082561,9889196,9885575,9858585,9840932,9710583,9677190,9632813,9545286,9525916,9472014,9464540,9372912,9334743,9315635,9311822,9244350,9223324,9199321,9192873,9188854,9178893,9150368,9139732,9041194,9029153,9019396,8917641,8806683,8756624,8756328,8684460,8647814,10373465,8626527,8610110,8601310,8510751,8275715,8259214,8242751,8242750,8230483,8101826,8033213,7969176,7743995,7716549,7630397,7569954,1717994,1714386,1388288,17083724,16289656,15050687,16189514,9891079,10877824,8764100,11585773,11302688,7780738,14530271,15469821,8475101,15652749,9632134,9546435,8662825,8463339,9467962,8617791 1017 NM_001798,NM_052827,AC025162,AC034102,AF512553,CH471054,U50730,AA810989,AB012305,AK291941,BC003065,BJ991087,BT006821,CR603533,CR610978,M68520,X61622,X62071 NP_001789,NP_439892,AAM34794,EAW96856,EAW96857,EAW96858,EAW96859,EAW96860,BAA32794,BAF84630,AAH03065,AAP35467,AAA35667,CAA43807,CAA43985,O75100,P24941,Q0JTZ8,CAL38014,ABM92215,ABM84693 Hs.19192,Hs.689624 GDB:128984 p33(CDK2) protein-coding 1318567 CDK2AP1 CDK2-associated protein 1 The protein encoded by this gene is a specific CDK2-associated protein, which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggested the regulatory role in DNA replication during S phase of the cell cycle. A similar gene in hamster was isolated from, and functions as a growth suppressor of normal keratinocytes. 1580863 9506968,17353931,17689689,17217620,15840587,15489334,14985111,14744761,13679870,12477932,10938106,10877824,9331572,16189514 8099 NM_004642,AC068768,CH471054,AB006077,AF006484,AI139790,BC034717,CR598800,CR604217,CR616383 NP_004633,EAW98398,EAW98399,EAW98400,BAA22937,AAC77831,AAH34717,O14519,ABM82207,ABM85394 Hs.433201 GDB:9954512 DOC1|DORC1|ST19|doc-1|p12DOC-1 protein-coding 1604051 CDK2AP2 CDK2-associated protein 2 15489334,14985111,14702039,12477932,10082655,16189514 10263 NM_005851,AP001184,CH471076,CR457050,CR542042,CR595755,CR596232,CR599781,CR605710,CR607070,CR626810,AF089814,AK001498,BC002850,BC016704,BT006909 NP_005842,EAW74644,AAP35555,CAG33331,CAG46839,AAC61745,AAH02850,AAH16704,O75956,Q6IAV4 Hs.523835 DOC-1R|FLJ10636|p14 protein-coding 1353695 CDK3 cyclin-dependent kinase 3 This gene encodes a member of the cyclin-dependent protein kinase family. The protein promotes entry into S phase, in part by activating members of the E2F family of transcription factors. The protein also associates with cyclin C and phosphorylates the retinoblastoma 1 protein to promote exit from G0. 727582,1580863 1639063,17192257,17081983,16964243,16344560,15951569,15084261,14702039,12097586,11955625,11733001,9811456,9150368,8846921,8626584,8626531,8242750,7882308 727582 1018 NM_001258,AC040980,AY789470,CH471099,AU146328,BC128406,BU784937,BX098771,DB455174,X66357 NP_001249,AAV40830,EAW89353,EAW89354,EAW89355,AAI28407,CAA47001,Q00526 Hs.706766 GDB:283456 protein-coding 732061 CDK4 cyclin-dependent kinase 4 The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. 1580863,704404,1358139,704385,625485 17909018,7603984,17420273,9190208,16782892,16109376,18361427,18281541,18202766,18174243,18006822,17895748,17892862,17664862,17556661,17530187,17517622,17505264,17409409,17304504,17139501,17072968,17047042,17043357,16949366,16913845,16690963,16601140,16582606,16476733,16413469,16326706,16189514,15880589,15860862,15821902,15797629,15761153,15505422,15489334,15480536,15241418,15208653,15169919,15065884,15024701,15004027,14754892,14701845,14694185,14672406,14647432,14646596,12731669,12680219,12601350,12565795,12545164,12531694,12529334,12477932,12357246,12130539,9106657,11896535,15232106,15558030,16169070,17274640,17353931,12082615,12077343,12036888,12006580,11982759,11971966,11884610,11828258,11779854,11684017,11668523,11426564,11358847,11310559,11254741,11254678,11157749,11120786,10908655,10788489,10748174,10713676,10639311,10602502,10601020,10580009,10499802,10353443,10342870,10022835,9837900,9425228,9396813,9380698,9315635,9311594,9244350,9228064,9192850,9163429,9150368,9139732,9111314,9110174,9003781,8703009,8666233,8626527,8619474,8528263,8449399,8275715,8259215,8221695,8139570,8001816,7739548,7739547,7652577,7606365,7568034,7478582,2948189,15050687,14641107,8805225,9482104,8999999,10491434,12857727,8662825,11556834,11291051 704385,625485 1019 NM_000075,NG_007484,AC025165,AF507942,CH471054,S67448,U37022,U81031,BC003644,BC005864,BC010153,BC015669,CR407668,CR542247,CR590586,CR591116,CR594194,CR597992,CR598582,CR602761,CR602927,CR608247,CR609991,CR616342,CR622282,M14505,U79269,Z48970 NP_000066,AAM23014,EAW97058,EAW97059,EAW97060,EAW97061,EAW97062,AAD13991,AAC50506,AAC39521,AAH03644,AAH05864,AAH10153,AAH15669,CAG28596,CAG47043,AAA35673,AAB50213,CAA88834,P11802,Q6FG61,Q6LC83,Q96BE9,ABM84063,ABM87419 Hs.95577 GDB:204022 CMM3|MGC14458|PSK-J3 protein-coding 1349434 CDK4PS cyclin-dependent kinase 4 pseudogene 359941 NG_006109,AL590631 pseudo 70825 CDK5 cyclin-dependent kinase 5 727582,734739,734741,734740,1580863 12690205,12491158,12477932,12435421,12387894,12372407,12372285,12226093,12154070,12084709,12077184,12071639,12064478,12056836,11955625,11882646,11865137,11823425,11784720,11743029,11741927,11733001,11684694,11675505,11604394,11583627,11483158,11311121,11278541,11254741,11181841,11168528,8090221,12223541,18350355,17713927,17611284,17581253,17493033,17491008,17145757,17121855,17060323,17045592,17036052,16519508,16413130,16407256,15917097,15911879,15890360,15790807,15741232,15492003,15489334,15345747,15178331,15123618,15030318,15013773,14741103,14704270,14521924,12972605,12963086,12855954,12832492,11113134,11104762,10995546,10936190,10896159,10884347,10762698,10721722,10683146,10604473,10544291,10500146,9832145,9771888,9735171,9614189,9596352,9565682,9546672,12826674,12824184,12796778,12769842,12765608,12691662,9422379,9396813,9353289,9199504,9150368,9013862,8891282,8764598,8702879,8275715,8090222,9478941,7949095,7834371,7566346,1639063,1330687,1181841,12832520,16189514,9038181 727582,734739,734741,734740 1020 NM_004935,AACC02000108,AC010973,CH471173,AK026533,AY049778,AY927560,BC005115,BT006680,BU527089,CA429180,CR457041,DQ411039,L04658,X66364 NP_004926,EAL24498,EAW54049,EAW54050,EAW54051,AAL15435,AAH05115,AAP35326,CAG33322,ABD66016,CAA47007,Q00535,Q6IAW3 Hs.647078 GDB:204023 PSSALRE protein-coding 1347592 CDK5PS cyclin-dependent kinase 5 pseudogene 359946 733787 CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35) The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. 704409,1580863 10721722,12223541,7592934,10915792,8090221,18053171,17496813,17493033,17491008,17121855,17060323,17036052,16678793,16425041,16407256,16189514,15917097,15741232,15536496,15492003,15489334,15342635,15175076,15123618,14976144,14702039,12859671,12832520,12832492,12826674,12688339,12491158,12477932,12230554,12226093,12084709,12037672,11882646,11784720,11741927,11604394,11583627,11389014,11168528,11113134,10830966,10753743,10604467,9933594,9010203,7556643,9038181 704409 8851 AC079336,AY376350,CH471147,AK095754,BC020580,BC026347,BC030792,BC032081,BC035448,BT019573,CR605929,X80343,NM_003885 NP_003876,AAQ74776,EAW80227,EAW80228,AAH20580,AAH26347,AAH30792,AAV38380,CAA56587,Q15078,Q5U0G3,Q8N619,Q8TAM4 Hs.500015 GDB:9958861 CDK5P35|CDK5R|MGC33831|NCK5A|p23|p25|p35|p35nck5a protein-coding 1349470 CDK5R2 cyclin-dependent kinase 5, regulatory subunit 2 (p39) The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. 1580863 7592934,15917097,15815621,12761178,12477932,12223541,11784720,11320080,10965112,10923673,10683146 8941 NM_003936,AC097468,CH471063,DQ307839,AI084857,BC009910,BC041771,BG703026,BT007437,CR614750,U34051 NP_003927,AAX88916,EAW70662,ABB96255,AAH41771,AAP36105,AAC50278,Q13319,Q5XKD4,Q96G76 Hs.158460 GDB:9957923 NCK5AI|P39|p39nck5ai protein-coding 1602114 CDK5RAP1 CDK5 regulatory subunit associated protein 1 Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. Multiple transcript variants exist for this gene, but the full-length natures of only two have been determined. 10721722,15231747,10915792,11882646,15489334,15329498,14702039,12477932,11780052,11042152,10810093,9373149,8125298,16189514 51654 NM_016408,NM_016082,AL355392,CH471077,AF152097,AF161516,AK023992,AK027449,AK095644,AK222745,AK292075,AY462283,AY462284,BC001215,BC050706,BQ072829,CR592631 NP_057492,NP_057166,CAI19389,CAI19392,CAI19393,CAI19394,EAW76318,EAW76319,EAW76320,EAW76321,EAW76322,EAW76323,EAW76324,EAW76325,AAD34147,AAF29131,BAB14760,BAB55120,BAD96465,BAF84764,AAS18317,AAS18318,AAH01215,AAH50706,Q53H36,Q5QP46,Q5QP48,Q675N4,Q675N5,Q96SZ6 Hs.435952 GDB:11504975 C20orf34|C42|CDK5RAP1.3|CDK5RAP1.4|CGI-05|HSPC167 protein-coding 1347674 CDK5RAP2 CDK5 regulatory subunit associated protein 2 Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein may also be a substrate of neuronal CDC2-like kinase. Multiple transcript variants exist for this gene, but the full-length nature of only two has been determined. 632478,1580863 14654843,10721722,10915792,18042621,17081983,16631324,16565220,15793586,15489334,15164053,14702039,12477932,10997877,10677332,11882646,12421765 632478 55755 NM_001011649,NM_018249,AL138836,AL353736,AL391870,AL590642,CH471090,AB046853,AF087969,AF448860,AK001729,AK025867,AK027636,AK122913,AL133161,AL833481,BC004526,BC019577,BC146782,BK005504,BX537421,BX537708,BX537759,BX640896,CR936622,CR936717 NP_001011649,NP_060719,CAI16963,CAI40653,CAI40655,CAI40656,CAI40657,CAH70769,EAW87457,EAW87458,EAW87459,EAW87460,EAW87461,EAW87462,EAW87463,BAB13459,AAP41926,BAA91865,BAB15263,BAB55253,CAB61487,AAH04526,AAH19577,AAI46783,DAA05504,CAD97663,CAD97819,CAD97828,CAE45944,CAI56765,Q05CZ3,Q5CZA0,Q5JSG4,Q5JTU8,Q5JTU9,Q5VU01,Q5VU02,Q66GT8,Q6MZT4,Q7Z3M0,Q96SN8 Hs.269560 GDB:10794763,GDB:11510003 C48|Cep215|DKFZp686B1070|DKFZp686D1070|KIAA1633|MCPH3 protein-coding 731437 CDK5RAP3 CDK5 regulatory subunit associated protein 3 Neuronal CDC2-like kinase, which is involved in the regulation of neuronal differentiation, is composed of a catalytic subunit, CDK5, and an activating subunit, p25NCK5A. The protein encoded by this gene binds to p25NCK5A and therefore may be involved in neuronal differentiation. The encoded protein, which may be a substrate of neuronal CDC2-like kinase, has also been found in vascular endothelial cells, where it mediates cell proliferation. 632478,1580863 10721722,17043677,17353931,17785205,10915792,17549666,16327995,16173922,16012757,15790566,15489334,15457556,14702039,12737517,12477932,12054757,11882646,9373149,8125298 632478 80279 AC018521,CH471109,AB062433,AF110322,AF217982,AF343090,AK000260,AK023722,AK223387,AK225274,BC009957,BC013407,BC072435,BM908175,CR597713,CR598279,CR598659,CR598665,CR600661,CR603693,CR604422,CR605714,CR608342,CR610084,CR610900,CR612080,CR615068,NM_176096,CR615649,CR620196,CR624059,CR626556 NP_788276,EAW94772,EAW94773,EAW94774,EAW94775,EAW94776,EAW94777,EAW94778,BAB93496,AAG39277,AAG17225,AAK69655,BAB14657,BAD97107,AAH09957,AAH72435,Q96JB5 Hs.20157 GDB:11510005 C53|HSF-27|IC53|LZAP|MST016|OK/SW-cl.114 cdk5 activator-binding protein c53 protein-coding 735400 CDK6 cyclin-dependent kinase 6 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. 727582,1580863 11828325,11940479,11804329,11739795,11416152,11374878,11360184,11358847,11124804,10934208,10602502,10514479,10499802,9751051,9751050,9667749,9380698,9164930,9150368,8889548,8001816,7882308,7759865,7566098,1639063,8805225,16189514,9482104,10339564,10491434,12867429,11971966,7629134,11556834,8114739,12861051,14985467,15254224,10205165,17420273,12833137,18361427,18305152,18281541,18174243,18003885,17989712,17909067,17409409,17353931,16713569,16314645,15790678,15761153,15687240,15592455,15504546,15489334,15232106,15221005,14702039,14694185,14627988,12853948,12690205,12592386,12477932,12082615,12006580 727582 1021 NM_001259,AC000065,AC004011,AC004128,AC005156,AY128534,CH236949,CH471091,AA312213,AB073601,AI023175,AI367890,AI400582,AI935072,AK000660,AK055922,AK123134,AK172791,AV726767,BC012914,BC027989,BC052264,BC063591,BC065026,BE893003,BG166127,BM542578,BM542629,BM542736,BM905472,BM978533,BQ048881,BQ213893,BQ231384,BU159055,X66365 NP_001250,AAM76970,EAL24146,EAW76827,EAW76828,EAW76829,AAH52264,CAA47008,Q00534 Hs.119882 GDB:283458 MGC59692|PLSTIRE protein-coding 734279 CDK7 cyclin-dependent kinase 7 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. 1580863 15530371,15635413,15489336,15489334,15461668,15328539,15282296,15249124,15220921,14569024,12571245,12477932,12379213,12167161,12140753,12049628,12023960,11445587,11113184,11076863,11062157,11056214,10866664,10734072,10639311,10438593,10428966,10224071,10082552,10066804,10024882,9840937,9832506,9765201,9651670,9570510,9334327,9311822,9184228,9130708,9121429,9056480,9054383,8934526,8849451,8692842,8647641,8628270,8521393,8208556,8078587,8069918,7944411,7936635,7929589,7885450,12527756,11062469,16189514,15572661,8208544,10801852,9405375,7533895,10583946,8692841,8946909,1939271,2449431,7629134,7799941,9512541,9582279,9790902,10214908,11313499,12393749,12646563,16782892,16109376,17707548,17628022,17386261,17192257,17012222,16381901,16327805,15695176 1022 NM_001799,AC093223,AC145132,AC145145,AY130859,CH471137,AK026509,BC000834,BC005298,BI520184,CA437275,CR600515,CR611671,CR620322,L20320,X77303,X77743,X79193,Y13120 NP_001790,AAM77799,EAW51300,EAW51301,AAH00834,AAH05298,AAA36657,CAA54508,CAA54793,CAA55785,CAA73587,P50613,Q0JU23,Q0JVF4,Q0JVL9,CAL37441,CAL37482,CAL37506,CAL37988 Hs.184298 GDB:374123 CAK1|CDKN7|MO15|STK1|p39MO15 protein-coding 1343382 CDK7PS cyclin-dependent kinase 7 pseudogene 9847074 220786 NG_001572,AC016732 pseudo 1348539 CDK8 cyclin-dependent kinase 8 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit cyclin C are components of the RNA polymerase II holoenzyme complex, which phosphorylates the carboxy-terminal domain (CTD) of the largest subunit of RNA polymerase II. This kinase has also been shown to regulate transcription by targeting the CDK7/cyclin H subunits of the general transcription initiation factor IIH (TFIIH), thus providing a link between the 'Mediator-like' protein complexes and the basal transcription machinery. 1580863 7568034,14638676,16109376,17612495,17212659,15546612,15175163,14983011,12584197,12477932,12145330,12007796,11441538,11416138,11278802,10993082,10235266,10198638,10024883,10023686,9734358,9710619,9443979,9121429,8700522,8274451,14759369,9159119,14576168 1024 NM_001260,AL159159,AL590108,CH471075,L30109,L30110,AY702976,BC069634,BC094784,BC104492,BC105950,BC107601,CR623449,L23208,X85753 NP_001251,EAX08384,EAX08385,EAX08386,EAX08387,AAU29339,AAH69634,AAI04493,AAI05951,AAI07602,CAA59754,P49336,Q64FY6 Hs.382306 GDB:9836477 K35|MGC126074|MGC126075 protein-coding 1349857 CDK8PS cyclin-dependent kinase 8 pseudogene 359940 1346548 CDK9 cyclin-dependent kinase 9 The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. 1580863 11739686,11730934,11713533,11713532,11704662,11689688,11689614,11575923,11572868,11549886,11547919,11545735,11504720,11282025,11746495,11278802,11266437,11152495,11145967,11118314,11112772,11080476,10983978,10964778,10958691,10944537,10931842,10913173,16980611,16841087,16741955,16552184,16344560,15965233,15890914,15753651,15713661,15635413,15564463,15528190,15514168,15489334,15452830,15286705,15201869,15169877,15164053,15049426,15009212,14963154,14701750,14627702,14569024,12944466,12894230,12887902,12861003,12832472,12753906,12727882,12718890,12651893,12588988,12486002,12477932,12386808,12368330,12368300,12173051,12115727,12065898,12052871,12037672,11884399,11809800,11780068,16109376,10866664,14580347,15107825,15713662,8170997,7853496,12676794,18250157,18218627,18205180,18039861,17998334,17956865,17942552,17502349,17452463,17352406,17251582,10912001,10903437,10757782,10671520,10661406,10656684,10617616,10574912,10545121,10536359,10467404,10465067,10454543,10438593,10393900,10393184,10384302,10377393,10364329,10364292,10329126,10329125,10082552,10077579,10066804,10064603,10049833,9990016,9872325,9857195,9843510,9832504,9827693,9811724,9765201,9696809,9651670,9649438,9570510,9557739,9499409,9491887,9356449,9334326,9334325,9258347,8870681,8849451,8676484,7695608,16838299,15994812,16179353,15498776,15905409,16103164,16146763,16035254,15719065,15638724,15473004,17192257,15183343,15139295,14984439,11420046,12944920,15546612,12036313 1025 NM_001261,AF255306,AF517840,AL162586,CH471090,BC001968,BE549667,BT019903,BX091973,CR618153,CR619508,DB120461,L25676,X80230 NP_001252,AAF72183,AAM54039,CAI39768,EAW87696,EAW87697,AAH01968,AAV38706,AAA35668,CAA56516,P50750,ABM82108,ABM85290,ABM85291 Hs.150423,Hs.706809 GDB:9836474 C-2k|CDC2L4|CTK1|PITALRE|TAK protein-coding 1321035 CDKAL1 CDK5 regulatory subunit associated protein 1-like 1 18477659,18469204,18461161,18437351,18426861,18285412,18264689,18252897,18210030,18162508,17993580,17928989,17804762,17463249,17463248,17463246,17460697,14702039,12477932 54901 NM_017774,AL022717,AL033521,AL035090,AL451080,AL512405,AL513015,AL513188,AL513549,AL590129,CH471087,CS300811,AK000349,AK024151,AK128546,AK291735,BC064145,BC121020,BC121021,CR623381 NP_060244,CAI19768,CAI21023,CAI20280,CAH72474,CAH73074,CAH72467,EAW55425,EAW55426,EAW55427,CAK32475,BAA91102,BAC87494,BAF84424,AAH64145,AAI21021,AAI21022,Q5VV42 Hs.657604 FLJ20342|FLJ46705|MGC75469 protein-coding 1312899 CDKL1 cyclin-dependent kinase-like 1 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the nucleus. Alternative splice variants encoding different protein isoforms have been described, but their full-length nature has not been determined. 727582,1580863 1639063,15761153,15499549,12477932,9000130,7595554 727582 8814 NM_004196,AL359397,AY525548,CH471078,AA780354,AF390028,BC104977,X66358,X66359,X66361 NP_004187,AAS00095,EAW65714,EAW65715,EAW65716,EAW65717,AAL58838,AAI04978,CAA47002,Q00532,Q2M3A4,Q8WXQ5 Hs.679430 GDB:9957302 KKIALRE|p42 protein-coding 1320063 CDKL2 cyclin-dependent kinase-like 2 (CDC2-related kinase) This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. 1580863 9000130,16631599,15499549,15489334,12477932,9847074,7721825,15502848 8999 NM_003948,AC096759,AC104828,AC108939,CH471057,AA813092,BC017417,BC093646,BC093981,CR607098,DB448184,U35146 NP_003939,EAX05740,EAX05741,AAH93646,AAH93981,AAC50918,Q92772 Hs.591698 GDB:9958876 KKIAMRE|P56 protein-coding 731372 CDKL3 cyclin-dependent kinase-like 3 The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 10463609,17945021,15499549,15489334,12927787,12477932 51265 NM_016508,NM_001113575,AC104109,AC109454,CH471062,AF087989,AF130372,BC041799,BX104333 NP_057592,NP_001107047,EAW62263,EAW62264,EAW62265,EAW62266,AAF36509,AAH41799,Q8IVW4 Hs.105818 GDB:11500155 NKIAMRE serine/threonine kinase nkiatre beta protein-coding 1603844 CDKL4 cyclin-dependent kinase-like 4 344387 NM_001009565,AC079615,AC092672,CH471053,AY845084,AY847283 NP_001009565,EAX00349,AAW30008,AAW31760,Q2NME9,Q5MAI5 Hs.403201 protein-coding 1353625 CDKL5 cyclin-dependent kinase-like 5 This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. 1580863 16935860,18063413,17993579,17089071,17049193,16611748,16326141,16015284,15917271,15772651,15689447,15635068,15499549,15492925,15489334,12736870,12477932,9721213,8864140 6792 NM_001037343,AL109798,CH471074,AI286150,AL704691,AY217744,BC010966,BC036091,X89059,NM_003159,Y15057 NP_001032420,EAW98940,EAW98941,AAO64440,NP_003150,CAA61445,CAA75342,O76039,AAI52847 Hs.659851 ISSX|STK9 protein-coding 735341 CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-CDK2 or -CDK4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of CDK2, and may be instrumental in the execution of apoptosis following caspase activation. Two alternatively spliced variants, which encode an identical protein, have been reported. 1580863,2289651,2289652,2289654,2289656,2289659,2289661,2289666,2289672,2289639,2289663 10323868,8242751,8756624,15232106,15890360,17517622,10208428,17553787,9660939,17420273,9106657,9632134,9190208,9840943,11231585,11931757,16782892,18459109,18361427,18339845,18334933,18316600,18281541,18281511,18251939,18230337,18226366,18215742,18212054,18205772,18203777,18202757,18181833,18174243,18174230,18172194,18166158,18162533,18162471,18156402,18097575,18086887,18067855,18046503,18035504,18025091,18024214,17972508,17941827,17937105,17925548,17920036,17911387,17894409,17873065,17855660,17804869,17721438,17700068,17692879,17686574,17684142,17682292,17671727,17671689,17671089,17662641,17656367,17641414,17638911,17634558,17627285,17619016,17617120,17616661,17611661,17606716,17595776,17592292,17585201,17560543,17556661,17536310,17513615,17502456,17498252,17477906,17465503,17460194,17460193,17448597,17443496,17438369,17431791,17409409,17388661,17371838,17351341,17339230,17337084,17325029,17317670,17303651,17300726,17293864,17292858,17286201,17284535,17283049,17239344,17214516,17203174,17188136,17172832,17172426,17158927,17130157,17109628,17108107,17080297,17079872,17079232,17074759,17072949,17062672,17059853,17055654,17054950,17050675,17016640,17014852,17008550,16982699,16964243,16953367,16952553,16951143,16867219,16837471,16835890,16831599,16818630,16804901,16804724,16803887,16777994,16775840,16765349,16735508,16723699,16718778,16712793,16705171,16678112,16616141,16581770,16580634,16551699,16533812,16514663,16507767,16480585,16479163,16464125,16434701,16432835,16394138,16381901,16364249,16344560,16344056,16343435,16289646,16288006,16287849,16283431,16280359,16276353,16262255,16256947,16254341,16248979,16243918,16214366,16199872,15033443,15024057,15016552,15014036,15003515,15001356,14981901,14764039,14762439,14761977,14759525,14751560,14744793,14738489,14726710,14719078,14715257,14712207,14702288,14677632,14647439,14642618,14637149,14633995,14628083,14607337,14607331,12354776,12205674,12204872,12168821,12151395,12151347,12151346,12145325,12138103,12123335,12111504,12058028,12055678,12054658,12054572,12054510,12052868,12046058,12036888,12025230,12015083,11989975,11968052,11956602,11953864,11943869,11911463,11908736,11893252,11882322,11877436,11877298,14597617,14592451,14580260,14574404,14572899,14504476,13678583,12970742,12964161,12963997,12936910,12931225,12930846,12930830,12890637,12885947,12884030,12867429,12855666,12853982,12847090,12841870,12839982,12825853,12810668,12809883,12782595,12781424,12771291,12748190,12727815,12727210,12716906,12706118,12705898,12699883,12698196,12690110,12681289,12680256,12665584,12665570,12651158,12644083,12642873,12612054,12599217,12573582,12545156,12531694,12527941,12522211,12519780,12517948,12513833,12485998,12477932,12474524,12459877,12457968,12441075,12434183,12431987,12431783,12429910,12417334,12412576,12407107,12400017,12396717,12393707,12392301,12388558,12384701,12379120,12370305,12359245,15694838,15694358,15690394,15671036,15665816,15665589,15664193,15647383,15645120,15623356,15609309,15606307,15598783,15592362,15582998,15574338,15555546,15528212,15510615,15509808,15497017,15492264,15489336,16189514,16182613,16150942,16149052,16142340,16142303,16135801,16122475,16111738,16091736,16082224,16081043,16080520,16078010,16054204,16014176,16012716,15975933,15972853,15965232,15964852,15960923,15944261,15942645,15936816,15905168,15880942,15880444,15878916,15866118,15840769,15819981,15817070,15807891,15798220,15776189,15767448,15764647,15763542,15756520,15753078,15752352,15750619,15746092,15743834,15743033,15738655,15736438,15735102,15716956,15709169,15708847,15489334,15475071,15474507,15456784,15389598,15386430,15378017,15371446,15371422,15367606,15347670,15342418,15340083,15317660,15309711,15302882,15297421,15291355,15286705,15251435,15240512,15226418,15201979,15201954,15190207,15184659,15184045,15181148,15173090,15171713,15169570,15161699,15122333,15111320,15107488,15094066,15082782,15081425,15069711,15060836,15059516,15036662,11877274,11872638,11842244,11815410,11809712,11781193,11762751,11756412,11751903,11751405,11748297,11741909,11733969,11700040,11695244,11684722,11642719,11559705,11498536,11463845,11389691,11350925,11255227,11254741,11179504,11175348,11084299,11076863,10891505,10878006,10848585,10828884,10764767,10753973,10710306,10692450,10679299,10529385,10486249,10455148,10337545,10022926,10022118,9858585,9837900,9822382,9811456,9799125,9798959,9716736,9467962,9396813,9372966,8861913,8807325,8700517,8662825,8657154,8259214,8242752,8125163,8101826,8084608,7753561,7698009,7655464,7478594,7478582,16554660,15142382,15179054,12947099,11022036,11896572,10973963,10912791,15856024,10858286,16009130,15989967,11302688,7780738,9178907,8999999,9705499,15893728,8647134,15710329,15780936,15546622,15580267,15765097,15660129,9515786,15321712,9546435,10873631,8560263,15780937,15616584,8861969,15674334,15674341,15084259 2289651,2289652,2289654,2289656,2289659,2289661,2289666,2289672,2289639,2289663 1026 NM_000389,AF497972,CH471081,CS284542,CS284544,Z85996,AB209881,AY008263,BC000275,BC000312,BC001935,BC013967,BT006719,CR536533,CR590203,CR593617,CR606246,CR612385,CR617250,CR621127,DA699672,L25610,L26165,L47232,L47233,S67388,U03106,U09579,NM_078467 NP_510867,NP_000380,AAM11787,EAX03904,EAX03905,EAX03906,EAX03907,CAJ98559,CAJ98560,CAB06656,BAD93118,AAG15411,AAH00275,AAH00312,AAH01935,AAH13967,AAP35365,CAG38770,AAA16109,AAA19811,AAB59559,AAB59560,AAB29246,AAC04313,AAA85641,P38936,Q0JUL3,Q59ED0,Q6FI05,Q96LE1,CAL37589,CAL37798 Hs.370771 GDB:266550 CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1 cyclin-dependent kinase inhibitor 1a protein-coding 69115 CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. 734746,1580863 10918569,8756624,9106657,9840943,12082530,15057270,15652749,15890360,17254966,17254967,8033212,10208428,12698196,12093740,12244303,18459109,18346358,18334933,18334837,18301453,18281541,18281517,18203777,18202760,18181833,18180298,18177895,18174243,18156402,18154709,18089324,18073348,18037997,18036045,18032931,18027257,18006823,17974156,17974037,17927588,17914108,17908995,17854759,17851288,17804714,17710155,17695524,17692879,17685465,17671428,17651785,17627278,17613551,17611557,17586698,17581405,17567920,17560996,17554557,17553787,17550142,17519308,17502456,17470459,17464290,17409409,17407140,17404436,17404431,16023837,16022660,16012758,16006622,15996662,15963850,15936816,15924242,15833859,15813917,15798096,15777850,15746092,15743786,15736055,15722793,15718252,15713665,15710386,15708847,15701850,15688030,15688004,15652359,15647380,15645120,15627896,15611642,15605273,15592362,15583032,15579505,15579463,15492811,15489336,15489334,15480426,15475071,15469821,15457580,15378017,15374880,15358549,15355997,15352609,15314639,15302935,15289327,15271792,15239677,15217930,15199159,15188025,15170516,15161709,15154004,17319789,17372254,17316413,17311291,17303695,17285761,17239930,17237771,17216128,17203174,17188136,17178856,17148774,17123889,17072952,17072949,17053782,17030811,17013388,17008550,16966613,16951171,16939421,16880511,16842750,16835890,16804901,16705171,16636894,16598766,16537899,16532026,16526056,16480585,16474380,16465393,16458085,16425372,16407831,16398674,16391524,16381901,16326706,16322693,16300740,16289477,16283443,16273250,16254341,16209941,16194892,16189514,16135812,16123592,16097446,16086840,16052694,16035731,16024059,15133847,15096506,15064717,15061869,15060836,15034923,15026335,15024385,15014027,14984940,14871979,14760081,14747563,14719054,14707458,14707456,14694185,14666612,14654548,14614018,14612944,14606065,14586408,14573608,14558671,14534684,14517080,12972555,12963837,12954644,12904306,12883474,12882323,12860294,12850001,12824885,12820381,12813041,12809895,12777997,12771291,12748192,12727815,12700629,12684618,12684422,12682919,12670508,12642875,12637327,12599217,12579309,12576455,12531224,12529437,12529328,12529174,12527941,12515730,12508646,12507555,12501191,12490316,12482975,12477932,12429629,12413889,12401804,12386815,12356941,12351407,12244302,12244301,12239454,12210483,12202478,12188931,12133571,12133429,12123335,12119282,12101669,12086850,12085261,12082635,12070150,12052868,12051885,12051866,12042314,12036888,12015771,11967155,11957145,11940657,11940481,11920465,11908736,11889117,11884439,11877298,11877274,11875067,11420686,11374878,11278754,11076863,10973491,10944199,10913178,10908655,10891505,10891500,10828884,10779628,10559916,10559792,10514396,10397455,10361114,10342870,10337545,10098522,10022926,9858585,9811456,9731735,9716736,9699679,9467944,9192873,8684460,8629023,8596954,8557269,8530100,8012384,7882310,7882309,7882308,7478582,16554660,15050687,9891079,12947099,15619620,15084260,15531880,9632134,8560263,8637577,15735731 734746 1027 NM_004064,AC008115,AF213700,AF480891,CH471094,S76986,S76988,X84849,Z61220,Z61221,AF247551,AJ616234,AY004255,BC001971,BG701047,BT019553,BT019554,CR457399,CR592928,U10906 NP_004055,AAF21058,AAL78041,EAW96275,EAW96276,AAD14244,CAA59284,AAF69497,CAE82383,AAF88142,AAV38360,AAV38361,CAG33680,AAA20240,O43806,P46527,Q5U0H2,Q6I9V6,Q708J1,Q96TE0,Q9NYG6,Q9UH60,CAL37442,CAL38417,CAL38510,CAL38737,AAH01971 Hs.238990 GDB:636403 CDKN4|KIP1|MEN1B|MEN4|P27KIP1 cyclin-dependent kinase inhibitor 1b protein-coding 1322980 CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) The protein encoded by this gene is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. 1580863 17986608,17885492,17572845,17464323,17351341,17112701,17050328,16950772,16936778,16705184,16575194,16357845,16124066,16061564,15985436,15978938,15936816,15900410,15888726,15821902,15749785,15492797,15489334,15332324,15007390,14671317,14627666,14612924,14530263,12963725,12947099,12925736,12790805,12586619,12553041,12532471,12514787,12477932,12239171,12107413,11965547,11891530,11891335,11815601,11301189,10764802,10424811,10323243,9465025,8934543,8889548,8841187,8655143,8640800,8610162,7729683,1786629,15580267,7729684,9106657,16943770 1028 NM_000076,NM_001122630,NM_001122631,AC013791,CH471158,D64137,U48869,BC039188,BC067842,BM673714,CD676249,CR591638,CR605750,U22398 NP_000067,NP_001116102,NP_001116103,EAX02524,EAX02525,BAA11014,BAA11015,AAB05896,AAH67842,AAA85095,P49918 Hs.106070 GDB:593296 BWCR|BWS|KIP2|WBS|p57 protein-coding 737039 CDKN2A cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, MDM1, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. 1600814,1600816,1600822,1298567,1600828,1600812,1600820,1358481,1600823,1298747,1358489,2289674,2289675,2289677,2289678,2289680,2289681,2289683,2289686,2289688,2289690,2289698,2289673,2289676,2289679,2289682,2289684,2289685,2289687,2289689,2289699 10353611,8259215,11278317,12740913,15989956,17274640,17909018,12082630,10208428,15582998,16243918,10205165,14720514,14966292,17110379,18489844,18481196,18469204,18461161,18459109,18431743,18426861,18415014,18402768,18394558,18368387,18347195,18346352,18340101,18181189,18178632,18174243,18164318,18199527,18181833,18162776,18162508,18161865,18160777,18156978,18081229,18071362,18070208,18059027,18056257,18038118,18027257,18006786,18004878,17992122,17990010,17989730,17981214,17970082,17970080,17968318,17967182,17936562,17927591,17923809,17923752,17917670,17912431,17900658,17891181,17890059,17885492,17881001,17850505,17827400,17804762,17713569,17690110,17684142,17675763,17671701,18337602,18334933,18334838,18334837,18332116,18327804,18316603,18315600,18306932,18301453,18299477,18296270,18283637,18281541,18268126,18261630,18246599,18245468,18239974,18210030,18202755,18199985,18199718,17668170,17665255,17659731,17658461,17654117,17652530,17650224,17642181,17641414,17638879,17630509,17625456,17624602,17611661,17600882,17597480,17597110,17596760,17581420,17575133,17569790,17549378,17544373,17543474,17539963,17535296,17533400,17523078,17512033,17507663,17505264,17505013,17498885,17493241,17493032,17492760,17488404,17486064,17479413,17478681,17478679,17475325,17466040,17463249,17463248,17463246,17461444,17459456,17452980,17429140,17428253,17420273,17409409,17388661,17373842,17369842,17351674,17351341,17344414,17340131,17334400,17333389,17326708,17297463,17294450,17292825,17289033,17276933,17255954,17243166,17233832,17218939,17216555,17206475,17201148,17198740,17198188,17198183,17195959,17171691,17149367,17117177,17106238,17094467,17094449,17072968,17063143,17061045,17052587,17047042,17035234,17028578,17017004,17008550,17001621,16989737,16988943,16948516,16924243,16919029,16912209,16909113,16905682,16897432,16896043,16893909,16888288,16867217,16858682,16855788,15785933,15775976,15757201,15750619,15724013,15705881,15701968,15701851,15688012,15668906,15655836,15649253,15623583,15620660,15608367,15577313,15569978,15567177,15547691,15523694,15502810,15495191,15492985,15492852,15492837,15489334,15485902,15459500,16828922,16820088,16802342,16799478,16799475,16791592,16786135,16778587,16767161,16766534,16765318,16760301,16754749,16723698,16705183,16699861,16697958,16696307,16679321,16675157,16649250,16646054,16633071,16633070,16627991,16623784,16619216,16619045,16618910,16618779,16616093,16614947,16614725,16582626,16582619,16575904,16572177,16551852,16541270,16537449,16533530,16533425,16504234,16501607,16481301,16464125,16449996,16447252,16415792,16412137,16410719,16395703,16374456,16357845,16354203,16350398,16320052,16316628,16314743,16313047,16289646,16288006,16273250,16257403,16254459,16254068,16234564,16222700,16211008,16203797,16201750,16199529,16184554,16163549,16161044,16142358,16135794,16117791,16115911,16100943,15998377,15985168,15960923,15937071,15930346,15917995,15915391,15913553,15897876,15888044,15879498,15878620,15876874,15860862,15859515,15856016,15832197,15824739,15824172,15819981,15813917,15811326,15809712,15800668,15796965,15073118,15065884,15059516,15018706,15014032,15014024,15012776,14991744,14985402,14981901,14749371,14743210,14735200,14732922,14732230,14729628,14722037,14719111,14719109,14719099,14717921,14679123,14665636,14657708,14646619,14636574,14604992,15447998,15381905,15378017,15373786,15370242,15367885,15361884,15361825,15355988,15336553,15328914,15308640,15305164,15305154,15304099,15297971,15297411,15292938,15286709,15260847,15258567,15257544,15254707,15254040,15232106,15223748,15205349,15199070,15197677,15195142,15168247,15164053,15150307,15146471,15140233,15138269,15122588,15112341,15094066,15455389,15450420,15083191,15075790,14585357,14536079,14519636,14508519,14506702,12963980,12950144,12949053,12924440,12924439,12918069,12911724,12883667,12883368,12875969,12860972,12853838,12824886,12819388,12792748,12783933,12777976,12763133,12759390,12753296,12738984,12738733,12717828,12702553,12698196,12684640,12684623,12673200,14601048,14586645,12670910,12665584,12660818,12640129,12632492,12632489,12624503,12610506,12592382,12582152,12581892,12565176,12556559,12556369,12549483,12532425,12529334,12514789,12507935,12507899,12482990,12477932,12459645,12459644,12459643,12454511,12446718,12438273,12429789,12420227,12419160,12417717,12406345,12391839,12370286,12368906,12362979,12362978,12360404,12359767,12357355,12297306,12296515,12228235,12209876,12203782,12200117,12199782,12169206,12168936,12154087,12152785,12151395,12149228,12127556,12124774,12115568,12107107,12101670,12101111,12099684,12091906,12085228,12082636,12082610,12082609,12077343,12073046,12072543,12072536,12065407,12060387,12046062,12036898,12016143,12009890,12000709,11992549,11960918,11960384,11956078,11953887,11948103,11943335,11920642,11920239,11889694,11883935,11874489,11869517,12360471,11869511,11861400,11859969,11859122,11850526,11839665,11839577,11836554,11836163,11830494,11820732,11807902,11804283,11775544,11763427,11758167,11749694,11740049,11733969,11726555,11720478,11719461,11718560,11705866,11700040,11695244,11692873,11687599,11668523,11642719,11500805,11382768,11314038,11314011,11156381,11136714,11008905,10956390,10892805,10891505,10874641,10651484,10580009,10556039,10484981,10445844,10360174,9751050,9724636,9529249,9529248,9516223,9425228,9328469,9228064,8910511,8783570,8755727,8723678,8710906,8622687,8595405,8153634,8152487,8060323,7987388,7987387,7972006,7970734,7882351,7726912,7647780,7624155,7624129,7606716,7541708,12606707,14612427,15107860,17353931,8805225,10318838,16007099,9482104,10822382,10491434,15729358,11556834,9653180,15210108 1600814,1600816,1600822,1298567,1600828,1600812,1600820,1358481,1600823,1298747,1358489,2289674,2289675,2289677,2289678,2289680,2289681,2289683,2289686,2289688,2289690,2289698,2289673,2289676,2289679,2289682,2289684,2289685,2289687,2289689,2289699 1029 NM_058195,NM_058197,NM_000077,NG_007485,AB060808,AF044170,AF527803,AL449423,CH471071,DQ325544,DQ406745,S69804,S69822,S69824,U12818,U12819,U12820,X94154,AF115544,AI859822,AL582909,BC015960,BC021998,BI258230,BT007020,CR604976,DQ318021,L27211,S78535,U26727,U38945,AJ844636 NP_478102,NP_478104,NP_000068,BAB91133,AAD02319,AAM77919,AAR05391,CAH70600,CAH70601,EAW58598,EAW58599,EAW58600,EAW58601,EAW58602,EAW58603,ABC50001,ABD72255,AAD14048,AAD14050,AAB60645,CAA63870,AAD11437,AAH15960,AAH21998,AAP35666,ABC47036,AAA92554,AAC60649,AAA82236,AAB01737,P42771,Q208B5,Q2MJK0,Q5VVJ3,Q5ZEY9,Q8N726,Q9UPB7,CAH59950 Hs.512599 GDB:335362 ARF|CDK4I|CDKN2|CMM2|INK4|INK4a|MLM|MTS1|TP16|p14|p14ARF|p16|p16INK4|p16INK4a|p19 cyclin dependent kinase inhibitor 2a protein-coding 1604354 CDKN2AIP CDKN2A interacting protein 17460193,16803988,15109303,14702039,12477932,12154087,9373149,8125298 55602 NM_017632,AC112698,CH471056,AF246705,AK000043,AK096180,AK225848,BC022270,BX538162 NP_060102,EAX04691,AAF68967,BAA90902,AAH22270,CAD98042,Q7Z335,Q9NXV6,ABZ92045 Hs.699392 CARF|FLJ20036 protein-coding 1602992 CDKN2AIPNL CDKN2A interacting protein N-terminal like 12477932 91368 NM_080656,AC109454,CH471062,CS072469,BC008293,BC018086,CR591520,CR602620,CR604625,CR612735 NP_542387,EAW62259,EAW62260,EAW62261,CAI93607,AAH08293,AAH18086,Q96HQ2 Hs.156506 MGC13017 protein-coding 1348731 CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. 1580863,2289697,2289695,2289684,2289696 8078588,9230210,16169070,17553787,17597576,16943770,18489844,18477659,18469204,18461161,18437351,18426861,18368387,18332116,18281541,18210030,18174243,18162508,18071362,17928989,17909067,17900658,17885492,17827400,17804762,17673925,17652530,17546638,17513607,17478681,17478679,17463249,17463248,17463246,17459456,17409409,17316622,17074388,17008550,16909113,16890288,16872319,16799475,16682076,16618910,16381901,16189514,16000597,15978938,15960923,15937071,15917995,15819981,15813917,15755508,15523694,15489336,15489334,15475071,15164053,15112341,15093610,14696398,14623092,14519636,12970781,12684640,12592382,12556369,12477932,12060387,12036898,12007796,11992549,11874489,11859969,11695244,11692873,11668523,11283613,11076863,10892805,10574984,9163429,9111314,9042862,8153634,8001816,7987828,7882351,7675459,7478582,15580267 2289697,2289695,2289684,2289696 1030 AAB32712 BC014469,BC018984,BI560960,CR536529,L36844,U17075,AF488731,NM_004936,AF058758,AF513858,AJ844637,AL449423,CH471071,S69805,S75756,AF004819,AF488409,AF488410,NM_078487 AAH14469,CAG38766,AAA50282,AAC50075,AAB32712,O15125,P42772,Q0JT95,Q0JTM0,Q0JUH1,Q5ZEY8,Q86WJ4,Q8NIA6,Q9UM95,CAL37519,CAL37840,CAL38142,CAL38269,NP_511042,NP_004927,AAF28397,AAM44859,CAH59951,CAH70602,CAH70603,EAW58596,EAW58597,AAD14049,AAD14186,AAB69989,AAO49471 Hs.72901 GDB:579577 CDK4I|INK4B|MTS2|P15|TP15|p15INK4b protein-coding 1604405 CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. 8001816,17353931,10208428,11800646,18394558,18316595,18281541,18174243,17710155,17409409,16802342,16260494,16169070,15489334,15107819,14702039,14645011,12698196,12477932,12203782,12077144,11668523,10737800,10074345,9973200,9636670,9537438,9437433,8840966,8663131,8647873,8397372,8259215,9482104 1031 NM_001262,NM_078626,AF041250,AF058759,AL359977,AL590455,AY094608,CH471059,AF041248,AK021794,AK091170,BC000598,BC005041,BC016173,BC017036,BE783451,BE831176,CR450289,AF041249,U17074,CR612337 NP_001253,NP_523240,AAC39783,AAF28398,AAM11873,EAX06833,EAX06834,EAX06835,EAX06836,AAC39782,AAH00598,AAH05041,AAH16173,CAG29285,AAC50074,P42773,Q6ICV4,Q9P1T2,ABM82442,ABM85633 Hs.525324,Hs.706753 GDB:594931 INK4C|p18|p18-INK4C protein-coding 1346352 CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. 1580863 8741839,15750620,10208428,16322758,18281541,18276842,18174243,17804013,17409409,16189514,15489334,15107822,12698196,12665801,12477932,12203782,12062451,11786024,11301189,10962575,10734227,10557343,10390011,9782052,9751051,9751050,9001419,8575754,7739548,7739547 1032 NM_001800,AC011475,AF044171,AF061327,AF518878,CH471106,BC001822,BG719545,BI462387,BI669755,CR542158,NM_079421,CR614055,U20498,U40343,U49399 NP_524145,NP_001791,AAD02320,AAC27450,AAM54045,EAW84122,EAW84123,AAH01822,CAG46955,AAA85436,AAB18139,AAB03772,P55273,ABM83798,ABM83877,ABM87119 Hs.435051 GDB:594926 INK4D|p19|p19-INK4D protein-coding 1317172 CDKN3 cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase) The protein encoded by this gene belongs to the dual specificity protein phosphatase family. It was identified as a cyclin-dependent kinase inhibitor, and has been shown to interact with, and dephosphorylate CDK2 kinase, thus prevent the activation of CDK2 kinase. This gene was reported to be deleted, mutated, or overexpressed in several kinds of cancers. 728374,1580863 10669749,9989807,8242751,7698009,7569954,11463386,8242750,8127873,17056014,16945326,15671017,15147518,12745075,12477932,11781350,11684017,10987270 728374 1033 CH471061,AF213033,AF213034,AF213035,AF213036,AF213037,AF213038,AF213039,AF213040,AF213041,AF213042,AF213043,AF213044,AF213045,AF213046,AF213047,AF213048,AF213049,AF213050,AF213051,AF213052,AF213053,AK098653,AY257474,AY257475,AY257476,AY257477,AY257478,BC064965,BT019451,CR407666,CR609253,CR621708,EF560750,L25876,L27711,U02681,NM_005192,AL049778,AL359792,AY194117 EAW80632,EAW80633,EAW80634,AAK06365,AAK06366,AAK06367,AAK06368,AAK06369,AAK06370,AAK06371,AAK06372,AAK06373,AAK06374,AAK06375,AAK06376,AAK06377,AAK06378,AAK06379,AAK06380,AAK06381,AAK06382,AAK06383,AAK06384,AAP13062,AAP13063,AAP13064,AAP13065,AAP13066,AAH64965,AAV38258,CAG28594,ABQ59060,AAA60222,AAA66496,AAC04932,Q16667,Q53ZU6,Q5U0M4,Q6P1N8,Q86SK7,Q86SK8,Q9BPV5,Q9BY34,Q9C043,Q9C044,Q9C045,Q9C046,Q9C048,Q9C050,NP_005183,AAN86348 Hs.84113 GDB:330748 CDI1|CIP2|FLJ25787|KAP|KAP1|MGC70625 protein-coding 1353635 CDL1 Cornelia de Lange syndrome 1 1956066 GDB:136344 1344924 CDL2 Cornelia de Lange syndrome 2 GDB:265279 737394 CDO1 cysteine dioxygenase, type I 1300048,1580863 12110289,12871209,18033314,17327371,15489334,15302935,12477932,11101006,9497919,8835096,7524679,17353931 1036 NM_001801,AC026449,CH471086,D85782,U60232,U80055,AK130357,AL534761,BC024241,BX336206,CR536540,CR591921,CR597792,CR606190,CR607883,D85777,Z23010,Z31357 NP_001792,EAW48957,BAA12873,AAB58352,AAH24241,CAG38777,BAA12872,CAA80552,CAA83234,Q16857,Q16878,ABM82578 Hs.442378 GDB:438743 protein-coding 1345886 CDON Cdon homolog (mouse) CDON and BOC (MIM 608708) are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat family involved in myogenic differentiation. CDON and BOC are coexpressed during development, form complexes with each other in a cis fashion, and are related to each other in their ectodomains, but each has a unique long cytoplasmic tail.[supplied by OMIM] 1299440 11782431,9214393,15489334,14702039,12720294,12634428,12620190,12477932 1299440 50937 NM_016952,AP000821,AP000842,CH471065,AB209396,AF004841,AI190027,AK022986,BC098583,BC112362,BC114435 NP_058648,EAW67672,BAD92633,AAC34901,AAH98583,AAI14436,Q14DR1,Q4KMG0 Hs.38034 GDB:11505746 CDO|MGC111524|ORCAM cell adhesion molecule-related/down-regulated by oncogenes 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1350416 CDPD1 corneal dystrophy and perceptive deafness 1 93976 GDB:11505748 1345930 CDR1 cerebellar degeneration-related protein 1, 34kDa 17911582,12477932,11846061,11328762,9159144,3474619,2326268,1708201 1038 NM_004065,AL078639,M31423,BC113472,BC113474,H98878,M16965,N79390 NP_004056,CAI42370,AAA51962,AAI13473,AAI13475,AAA52472,P51861 Hs.571748 GDB:119053 CDR|CDR34|CDR62A protein-coding 1321565 CDR2 cerebellar degeneration-related protein 2, 62kDa 1580863 11988016,18025478,16054780,15489334,15081253,12477932,10465786,9809559,9637778,9344654,8889548,2260856,2014264,1763903,1505970 1039 AC092338,CH471249,AK292273,BC017503,BG386156,BG750955,BM714067,CB990819,CR617156,D12981,M63256,NM_001802 EAW50609,EAW50610,BAF84962,AAH17503,BAA02360,AAA51961,Q01850,ABM83129,ABM83130,ABM86325,NP_001793 Hs.513430 GDB:128128 CDR62|Yo protein-coding 1602123 CDR2L cerebellar degeneration-related protein 2-like 12477932 30850 NM_014603,AC087651,CH471099,AW239343,BC013105,BC047534,CR598377,L02867 NP_055418,EAW89223,EAW89224,EAW89225,EAW89226,AAH47534,AAA91850,Q86X02,ABZ92326 Hs.78358 HUMPPA protein-coding 1350394 CDRT1 CMT1A duplicated region transcript 1 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15520277,14702039,11381029,9787083,9403059,8889548,7586531 374286 AC005324,NM_006382,AC005838,AF045592,AF337810,AK057407,BU738380,U43383,U65652 NP_006373,AAC69998,AAK15344,AAD10830,AAC52034,O95170,Q9BXD7 Hs.548021,Hs.632233 GDB:11505750 C170RF1|C17ORF1|C17ORF1A|DKFZp434O1826|HREP|SM25H2 protein-coding 1351000 CDRT10 CMT1A duplicated region transcript 10 94153 GDB:11505752 1354486 CDRT11 CMT1A duplicated region transcript 11 94154 GDB:11508567 1349271 CDRT12 CMT1A duplicated region transcript 12 94155 GDB:11508568 1352764 CDRT13 CMT1A duplicated region transcript 13 94156 GDB:11508569 1347087 CDRT14 CMT1A duplicated region transcript 14 94157 GDB:11505754 1603575 CDRT15 CMT1A duplicated region transcript 15 12477932,11381029 146822 NM_001007530,AC005224,AF355097,CH471108,BC071823 NP_001007531,AAK39098,EAW89958,Q96T59 Hs.447556 GDB:11505756 protein-coding 1602662 CDRT15P CMT1A duplicated region transcript 15 pseudogene 12477932,11381029 94158 NR_003261,AC005304 pseudo 1354393 CDRT2 CMT1A duplicated region transcript 2 94144 GDB:11505758 1345039 CDRT3 CMT1A duplicated region transcript 3 94145 GDB:11508566 1351857 CDRT4 CMT1A duplicated region transcript 4 14702039,12477932,11381029 284040 NM_173622,AC005517,CH471108,AK093993,AK126240,AK172733,BC029542 NP_775893,EAW89938,BAC04263,BAC86501,AAH29542,Q8N9R6,Q6ZTS8 Hs.164595 GDB:11505760 FLJ36674|MGC33988|NBLA10383 protein-coding 1343934 CDRT5 CMT1A duplicated region transcript 5 94148 GDB:11505762 1346673 CDRT6 CMT1A duplicated region transcript 6 11381029 94149 AL037161 GDB:11505764 DKFZp564P0164 protein-coding 1349224 CDRT7 CMT1A duplicated region transcript 7 94150 GDB:11505766 1353579 CDRT8 CMT1A duplicated region transcript 8 94151 GDB:11505768 1344073 CDRT9 CMT1A duplicated region transcript 9 11381029 94152 AI220152 GDB:11505770 protein-coding 734044 CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. 734756,734754,734755,1580863 9115637,8863531,9806839,16344560,15489334,12477932,9889000,9407135,12438214 734756,734754,734755 1040 NM_001263,AC104082,CH471057,AU139278,BC074833,BC074881,U60808,U65887 NP_001254,EAX05950,EAX05951,AAH74833,AAH74881,AAC51184,AAC50735,Q92903 Hs.654899 GDB:9862898 CDS protein-coding 731362 CDS2 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. 1580863 9806839,17081983,15489334,14702039,12477932,12457874,11780052,9889000,9407135 8760 NM_003818,AL121755,AL121924,CH471133,AF069532,AK001414,AK027695,AK091045,AK095430,BC025751,CR590453,CR597119,CR604132,CR605913,CR622068,CR624185,CR624244,Y16521 NP_003809,CAI22376,CAI22378,CAI22631,CAI22633,EAX10424,EAX10425,EAX10426,AAC78305,AAH25751,CAA76270,O95674,ABM82569,ABM85758 Hs.472027 GDB:9953182 FLJ38111 protein-coding 1353195 CDSN corneodesmosin This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. 1599783,1580863 15086562,11739386,9395522,8415725,18369457,16965413,16642438,16344560,16297191,15953084,15654960,15466487,15333584,12754508,12653732,12477932,12472658,12366786,11279026,11169256,10599883,9712893,7818278,4141628,15140227,16189514 1599783 1041 AB088114,AF224747,AF224748,AF224749,AF224750,AF224751,AF224752,AF224753,AF224754,AF224755,AF224756,AF224757,AF224758,AF286165,AF491326,AF491328,AF491330,AJ238461,AJ238462,AJ238463,AJ238464,AJ238465,AJ238466,AJ238467,AL662844,NM_001264,AL662867,AL773544,AP000510,AY328474,AY328475,CH471081,AF030130,AI768204,AK292636,AU134804,BC031993,L20815 NP_001255,BAC54948,AAF78559,AAF78560,AAF78561,AAF78562,AAF78563,AAF78564,AAF78565,AAF78566,AAF78567,AAF78568,AAF78569,AAF78570,AAG02419,AAN70994,AAN70995,AAN70996,CAB57266,CAB57267,CAB57268,CAB57269,CAB57270,CAB57271,CAB57272,CAI17719,CAI18479,BAB63316,AAP94640,AAP94641,EAX03358,AAC24196,BAF85325,AAH31993,CAI18323,AAA21321,Q0EFA5,Q15517,Q2L6G8,Q7Z559,Q7Z560,ABM82509,ABM85703 Hs.556031 GDB:9837405 D6S586E|HTSS|S protein-coding 1604278 CDT1 chromatin licensing and DNA replication factor 1 15232106,14672932,11125146,10436018,11095689,11931757,12045100,18288374,18184650,18006835,17598984,17085480,17029205,16949367,16940174,16861906,16835273,16407252,16407242,16273206,16261166,15855168,15489334,15302935,15284237,15257290,15004027,14993212,12840033,12477932,12429841,12192004,11896191,11555648,10898791,10766248,9110174,8619474,15448697,15260975 81620 AC092384,CH471184,AB053172,AF070552,AF321125,BC000137,BC008676,BC008860,BC009410,BC014202,BC021126,BC049205,CR596577,CR597956,CR598796,CR600099,CR603023,CR609788,CR610728,CR613412,CR613446,CR614189,NM_030928,CR625627 NP_112190,EAW66762,EAW66763,EAW66764,BAB61878,AAG45181,AAH00137,AAH08676,AAH08860,AAH09410,AAH14202,AAH21126,AAH49205,Q9H211 Hs.122908 DUP|RIS2 protein-coding 1602107 CDV3 CDV3 homolog (mouse) 10497265,16094384,15144186,14702039,12477932,12359334,15580267 55573 NM_017548,XM_001133252,AC016255,CH471052,AF103803,AK025647,AK026272,AK096865,BC007338,BC034727,CR610571 NP_060018,XP_001133252,EAW79176,EAW79177,AAF02423,AAH07338,Q96IP9,Q9UKY7 Hs.518265 H41 protein-coding 1321203 CDX1 caudal type homeobox 1 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. 1580863 8530027,18231635,15894614,15774940,15489334,15215241,15143193,14715525,14704280,12970739,12477932,12124393,11846061,9036867,8563749 1044 NM_001804,AC005895,CH471062,U16360,AF239666,BC096249,BC096250,BC096251,BC096252,BC127122,U15212,U51095 NP_001795,EAW61745,AAA80284,AAF61234,AAH96249,AAH96250,AAH96251,AAH96252,AAI27123,AAC50237,AAB40602,P47902,Q14DX0,Q4VAU3,Q4VAU5 Hs.1545 GDB:568484 MGC116915 caudal type homeo box transcription factor 1 protein-coding 730914 CDX2 caudal type homeobox 2 The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear proteins that bind to specific sequences within the promoter of the insulin gene (INS; MIM 176730) and interact with RNA polymerase to activate or repress transcription. The proteins LMX1 (MIM 600298) and CDX3 are homeodomain proteins that bind an A/T-rich sequence in the insulin promoter and stimulate its transcription (German et al., 1994 [PubMed 7698771]).[supplied by OMIM] 734757,1580863 9459001,18251778,18184409,18156982,17906616,17876541,17855634,17614034,17599044,17549351,17534889,17468517,17297462,16996572,16963449,16831200,16794828,16788384,16618413,16509871,16480684,16361536,16331267,16291394,16144916,16027724,15994917,15894926,15782100,15774940,15722794,15645288,15619975,15547744,15517368,15489334,15466189,15362373,15327990,15240568,15217781,15215241,15205684,15190067,15167938,15048136,14615935,14576477,14557879,14525978,13679455,12970742,12968672,12947088,12559945,12518221,12477932,12270138,12117877,11871772,11846061,11733373,11729123,11161380,10677375,10506141,10066780,9933478,9247466,9052785,9036867,8635654,7935448,7698771 734757 1045 NM_001265,AF007886,AJ278431,AL591024,CH471075,BC014461,U51096,Y13709 NP_001256,AAD05200,CAB94779,CAH70633,EAX08422,AAH14461,AAB40603,CAA74038,Q99626,Q9UD92,ABM84552,ABW03475 Hs.174249 GDB:383364 CDX-3|CDX3 caudal type homeo box transcription factor 2 protein-coding 1351181 CDX4 caudal type homeobox 4 1580863 15772651,15684390,14505364,12477932,9321471,7655457 1046 NM_005193,AF003530,AF029877,AF029878,AF029879,AL450108,CH471104,BC128233 NP_005184,AAB66319,AAD01894,CAI40795,EAW98667,AAI28234,O14627 Hs.553488 GDB:582581 protein-coding 1347031 CDY1 chromodomain protein, Y-linked, 1 This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. 1580863 9381176,18326516,14569460,12837688,12815422,12477932,12149400,12072557,11263480,11163833,10956550,10655032,10192397,9806824 9085 NM_004680,NM_170723,NG_004755,AC007562,AF000981,AF080597,AK292375,BC033041,BC132955 NP_004671,NP_733841,AAC52116,AAD22732,BAF85064,AAI32956,Q5U630,Q9Y6F8 Hs.159281 GDB:9954846 CDY|CDY1A|FLJ77185 protein-coding 1604526 CDY10P chromodomain protein, Y-linked 10 pseudogene 12815422,9847074 140043 NG_004832,AC021107 pseudo 1604155 CDY11P chromodomain protein, Y-linked 11 pseudogene 12815422,9847074 378014 NG_004832,AC021107 pseudo 1605210 CDY12P chromodomain protein, Y-linked 12 pseudogene 12815422,9847074 386734 NG_004755,AC007359 pseudo 1605209 CDY13P chromodomain protein, Y-linked 13 pseudogene 12815422,9847074 386735 NG_004755,AC008175 pseudo 1605208 CDY14P chromodomain protein, Y-linked 14 pseudogene 12815422,9847074 386736 AC016752,NG_004755 pseudo 1605207 CDY15P chromodomain protein, Y-linked 15 pseudogene 12815422 386737 NG_004755,AC073649 pseudo 1605206 CDY16P chromodomain protein, Y-linked 16 pseudogene 12815422 386738 NG_004755,AC073649 pseudo 1605205 CDY17P chromodomain protein, Y-linked 17 pseudogene 12815422,9847074 386739 NG_004755,AC068601 pseudo 1605204 CDY18P chromodomain protein, Y-linked 18 pseudogene 12815422 386740 NG_004755,AC023274 pseudo 1605203 CDY19P chromodomain protein, Y-linked 19 pseudogene 12815422,9847074 386741 NG_004755,AC007562 pseudo 1604499 CDY1B chromodomain protein, Y-linked, 1B This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. 14569460,12837688,12815422,12477932,12149400,12072557,11263480,11163833,10956550,10655032,10192397,9806824,9381176 253175 NM_001003895,NM_001003894,NG_004755,AC068601,AK292318,BC132929 NP_001003895,NP_001003894,BAF85007,AAI32930 Hs.562095 CDY|CDY1 protein-coding 1605202 CDY20P chromodomain protein, Y-linked 20 pseudogene 12815422,9847074 386742 NG_004755,AC007562 pseudo 1605201 CDY21P chromodomain protein, Y-linked 21 pseudogene 12815422,9847074 386743 NG_004755,AC017005 pseudo 1605200 CDY22P chromodomain protein, Y-linked 22 pseudogene 12815422,9847074 386744 NG_004755,AC017005 pseudo 1605199 CDY23P chromodomain protein, Y-linked 23 pseudogene 12815422,9847074 386745 NG_004755,AC007965 pseudo 1345198 CDY2A chromodomain protein, Y-linked, 2A This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. 1580863 15489334,12815422,12575791,12477932,12438810,12149400,12072557,11076863,10655032,10192397,9806824,9381176 9426 NM_004825,NG_004636,AC009976,AF080598 NP_004816,AAD22733,Q9Y6F7,AAI11920 Hs.251375 GDB:9956669 CDY|CDY2 chromodomain protein, y-linked, 2 protein-coding 1604722 CDY2B chromodomain protein, Y-linked, 2B This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. 9381176,15489334,12815422,12575791,12477932,12438810,12149400,12072557,10655032,10192397,9806824 203611 NM_001001722,NG_004636,AC009976,AK292233,BC069087,BC130426,BC130428 NP_001001722,BAF84922,AAH69087,AAI30427,AAI30429,Q9Y6F7 Hs.532657 CDY|CDY2|MGC163298|MGC163300 protein-coding 1346553 CDY3P chromodomain protein, Y-linked 3 pseudogene 12815422,9847074 286556 NG_003131,AC009952 pseudo 1348124 CDY4P chromodomain protein, Y-linked 4 pseudogene 12815422 386729 NG_003138,AC002531 pseudo 1604160 CDY5P chromodomain protein, Y-linked 5 pseudogene 12815422,9847074 378008 NG_004636,AC007742 pseudo 1605213 CDY6P chromodomain protein, Y-linked 6 pseudogene 12815422,9847074 386730 NG_004636,AC009976 pseudo 1605212 CDY7P chromodomain protein, Y-linked 7 pseudogene 12815422,9847074 386731 NG_004636,AC009976 pseudo 1605211 CDY8P chromodomain protein, Y-linked 8 pseudogene 12815422,9847074 386732 NG_004636,AC009976 pseudo 1604157 CDY9P chromodomain protein, Y-linked 9 pseudogene 12815422,9847074 378011 NG_004636,AC024183 pseudo 1606325 CDYL chromodomain protein, Y-like Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. 10192397,16565220,12947414,12700765,12477932,12072557,10655032 9425 NM_004824,NM_170751,NM_170752,AL022725,AL356747,AL359643,CH471087,AF081258,AF081259,AK291601,AL050164,BC043397,BC061516,BC108725,BC119682,BG766689,BQ930016,BU752976,CR608472 NP_004815,NP_736607,NP_736608,CAI20892,CAC36888,CAH73737,EAW55168,AAD22734,AAD22735,BAF84290,CAB43304,AAH61516,AAI08726,AAI19683,Q9Y232 Hs.269092 GDB:9956667 CDYL1|DKFZP586C1622|MGC131936 protein-coding 1319946 CDYL2 chromodomain protein, Y-like 2 14702039,12837688,12477932 124359 NM_152342,AC009070,AC092332,AC099313,CH471114,AK096185,AY273798,BC069440,BC100803,BC100804,BC100805,BC100806,BX390259,CR616267 NP_689555,EAW95563,BAC04720,AAP83842,AAH69440,AAI00804,AAI00805,AAI00806,AAI00807,Q7Z5I8,Q8N8U2 Hs.657681 FLJ38866 protein-coding 10241 CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of only two has been determined. 1580863 12370272,12122002,12108545,12011132,11994468,11912215,11884449,11850628,11751883,11501563,11293162,11035932,10955775,10882072,10805733,10553088,9867848,8543346,8423792,8055923,8018919,7628460,7626603,7606710,7592607,7504281,2537311,2025273,1572649,385181,16189514,11694516,15687237,2457922,17167768,18081725,17979980,17960155,17764466,17761831,17623671,17620353,17612570,17605118,17546042,17471435,17143599,17071610,16953805,16929097,16924126,16724098,16633066,16568082,16335952,16332726,16291724,16282604,16246332,16115956,15956076,15952183,15917161,15905509,15604255,15602572,15568039,15536067,15509546,15467833,15356119,15317738,15184366,15057824,15004155,15004154,14990688,14522961,12571236,12522268,12477932 634 BC024164,BX485906,CR608576,D12502,D90311,D90312,D90313,J03858,M69176,M72238,M76742,M76743,M76744,S71326,X14831,X16354,X16356,NM_001024912,NM_001712,A43165,AC004785,CH471126,DQ989182,X67277,AL833584,AY766113,BC014473 Q13859,Q13860,Q16170,Q3KRG8,Q5UB49,Q7KYP5,Q96CA7,AAH24164,BAA02063,BAA14341,BAA14342,BAA14343,AAA51826,AAA51825,AAA58393,AAA58394,AAA57142,AAA57143,AAA57144,AAB31183,CAA32940,CAA34404,CAA34405,P13688,Q069I7,Q13854,NP_001020083,NP_001703,CAA02704,AAC18433,AAC18434,AAC18435,AAC18436,AAC18437,AAC18438,AAC18439,EAW57137,EAW57138,EAW57139,EAW57140,EAW57141,EAW57142,EAW57143,ABI75349,CAA47694,AAV34600,AAH14473 Hs.512682 GDB:127992 BGP|BGP1|BGPI protein-coding 1603834 CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16 16139472 388551 NM_001039213,AC092066,AF479646,EU021223 NP_001034302,AAQ05841,ABS52739,Q2WEN9,AAI56856 Hs.456381 CEAL2 protein-coding 1642767 CEACAM18 carcinoembryonic antigen-related cell adhesion molecule 18 16139472 729767 NM_001080405,AC020914 NP_001073874 Hs.653111 protein-coding 1601983 CEACAM19 carcinoembryonic antigen-related cell adhesion molecule 19 12975309,12801635,12477932 56971 NM_020219,AC092066,AF406955,CH471126,AK027157,AK128234,AK291588,AL390165,AY358394,BC083499 NP_064604,AAP70002,AAP70003,EAW57287,EAW57288,EAW57289,BAC87344,BAF84277,AAQ88760,AAH83499,Q5XJ15,Q6ZRG6,Q7Z692 Hs.416925 CEAL1|MGC105097 protein-coding 1601830 CEACAM20 carcinoembryonic antigen-related cell adhesion molecule 20 16139472,12975309 125931 NM_001102598,NM_001102599,NM_001102600,NM_001102597,AC069278,AC138472,CH471126,AY358129,EU008600,EU008601,EU008602,EU008603 NP_001096068,NP_001096069,NP_001096070,NP_001096067,EAW57280,AAQ88496,ABS57247,ABS57248,ABS57249,ABS57250,Q6UY09 Hs.689632 UNQ9366 protein-coding 1605603 CEACAM21 carcinoembryonic antigen-related cell adhesion molecule 21 14702039,12975309,12477932 90273 NM_033543,AC005626,CH471126,AI565085,AK023602,AY358084,BC012001,BC106727,BI833768,CR614590,NM_001098506 NP_001091976,NP_291021,AAC34569,EAW57048,EAW57049,EAW57050,EAW57051,EAW57052,AAQ88451,AAH12001,AAI06728,Q3KPI0 Hs.655885 CEACAM3|FLJ13540|MGC119874|R29124_1 protein-coding 737213 CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3 This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 17878338,17506820,17413979,17211733,17071045,16344560,14707113,12864848,12571236,12477932,12005421,11708798,8699114,8508798,2537643,2050678,1427854,8018919 1084 NM_001815,AC022516,CH471126,M22433,X16454,BC106728,D90277,D90278,DA674909,L00692,L00693,E03348,E03349 NP_001806,EAW57062,EAW57063,EAW57064,EAW57065,AAA51965,CAA34473,AAI06729,BAA14321,BAA14322,AAA51969,AAA51970,P40198,Q13982,Q3KPH9 Hs.11 GDB:127990 CD66D|CEA|CGM1|MGC119875|W264|W282 protein-coding 1347882 CEACAM4 carcinoembryonic antigen-related cell adhesion molecule 4 1580863 10737800,2050678 1089 NM_001817,AC005794,AC005955,CH471126,BF819374,BX644557,BX644579,D90276 NP_001808,AAC62829,AAC72273,EAW57054,EAW57055,EAW57056,BAA14320,O75871 Hs.12 GDB:127989 CGM7|CGM7_HUMAN|NCA protein-coding 1351932 CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 1580863 3814146,18219853,18155162,17951321,17941001,17852813,17653079,17589956,17286276,17201906,17016692,16804977,16740002,16574224,15905509,15546874,15130118,14566828,12636102,12477932,12420218,12237895,11964079,10931872,10854848,10816511,10800083,9373149,8125298,3670312,3356015,3220478,3033671,2955415,2342461,2309067,2286372,16189514,11406629 1048 NM_004363,AC008999,CH471126,CQ800159,M17303,M59255,M59710,M60964,X62151,AK223101,BC034671,CR749337,M15042,M16234,M17191,M29540,X16455 NP_004354,EAW57059,EAW57060,CAG27582,AAB59513,AAA62835,AAA51964,CAA44076,BAD96821,AAH34671,CAH18191,AAA51963,AAA51972,AAA51968,AAA51967,CAA34474,P06731,P78448,Q13984,Q53G30,Q68DM9,Q7KZ28,Q8N4D0,ABM81766,ABM87752 Hs.709196 GDB:119054 CD66e|CEA|DKFZp781M2392 protein-coding 1350005 CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) Carcinoembryonic antigen (CEA; MIM 114890) is one of the most widely used tumor markers in serum immunoassay determinations of carcinoma. An apparent lack of absolute cancer specificity for CEA probably results in part from the presence in normal and neoplastic tissues of antigens that share antigenic determinants with the 180-kD form of CEA (Barnett et al., 1988 [PubMed 3220478]). For background information on the CEA family of genes, see CEACAM1 (MIM 109770).[supplied by OMIM] 1580863 18223215,3220478,17960155,17909799,17653079,17525800,17503391,17286276,17201906,17167768,16899629,16740002,16115956,15826304,15489334,15340161,15316565,15208677,15130118,15081416,14724575,12571231,12477932,12005421,11994468,11896570,11095950,10666389,9266023,8018919,3619891,3527416,3337731,3128509,2830274,2612212,2341397,2332039,2022629 4680 NM_002483,AC011513,CH471126,M17082,BC005008,BT009774,M18216,M18728,M29541 NP_002474,EAW57061,AAA51971,AAH05008,AAP88776,AAA51739,AAA59907,AAA59915,P40199,Q13774,Q13985,Q53XP7 Hs.466814 GDB:120221 CD66c|CEAL|NCA protein-coding 1348231 CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7 1580863 7806520,16627067,15489334,15340161,15057824,12477932,10666389,10436421,9533775,9135022,2537643,1427854 1087 NM_006890,AC005797,CH471126,M22434,U04349,AF006622,AF006623,AK292213,BC121132,L31792,X98311 NP_008821,AAC62825,AAC62826,EAW57057,EAW57058,AAA51966,AAA03663,AAB62924,AAB62925,BAF84902,AAI21133,AAA66186,CAA66955,Q12813,Q14002 Hs.74466 GDB:127986 CEA|CGM2 protein-coding 1343324 CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8 1580863 2208113,2306228,17167768,18056392,17909799,16740002,15489334,15057824,12477932,12379336,11994468,11095950,10520185,9427723,2022629,1427854 1088 NM_001816,AC004558,CH471126,DQ822518,Z95119,BC026263,D90064,M33326,X52378 NP_001807,AAC13659,EAW57144,ABG46943,CAB08298,AAH26263,BAA14108,AAA59914,CAA36604,P31997,Q0Z7S6,ABM82897,ABM86087 Hs.41 GDB:127667 CD66b|CD67|CGM6|NCA-95 protein-coding 1349291 CEACAMP1 carcinoembryonic antigen-related cell adhesion molecule pseudogene 1 1572649,1427854 1090 NG_001096,M80575,M96921 GDB:127991 CGM8 pseudo 1351375 CEACAMP10 carcinoembryonic antigen-related cell adhesion molecule pseudogene 10 7851896,7851895 1098 NG_001104,AC005392,U06678 GDB:392171 CGM17 pseudo 1342833 CEACAMP11 carcinoembryonic antigen-related cell adhesion molecule pseudogene 11 7851896,7851895 1086 NG_001095,AC005392,U06679 GDB:392172 CGM18 pseudo 1352759 CEACAMP2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 1427854 1091 NG_001097,AC004559,M96922 GDB:127988 CGM9 pseudo 1354278 CEACAMP3 carcinoembryonic antigen-related cell adhesion molecule pseudogene 3 7851896,7851895,1427854 1092 NG_001098,AC005955,M96923 GDB:132364 CGM10 pseudo 1350826 CEACAMP4 carcinoembryonic antigen-related cell adhesion molecule pseudogene 4 7851896,7851895,1427854 1093 NG_001099,AC005392,M96924 GDB:132365 CGM11 pseudo 1347337 CEACAMP5 carcinoembryonic antigen-related cell adhesion molecule pseudogene 5 7851896,7851895 1085 NG_001094,AC004558,AC005204,U06672,U06673 GDB:392165 CGM12 pseudo 1343987 CEACAMP6 carcinoembryonic antigen-related cell adhesion molecule pseudogene 6 7851896,7851895 1094 NG_001100,AC004610,U06674 GDB:392167 CGM13 pseudo 1352963 CEACAMP7 carcinoembryonic antigen-related cell adhesion molecule pseudogene 7 7851896,7851895 1095 NG_001101,AC004679,U06675 GDB:392168 CGM14 pseudo 1349495 CEACAMP8 carcinoembryonic antigen-related cell adhesion molecule pseudogene 8 7851896,7851895 1096 NG_001102,AC004784,U06676 GDB:392169 CGM15 pseudo 1346052 CEACAMP9 carcinoembryonic antigen-related cell adhesion molecule pseudogene 9 7851896,7851895 1097 NG_001103,AC005791,AC024077,U06677 GDB:392170 CGM16 pseudo 69121 CEBPA CCAAT/enhancer binding protein (C/EBP), alpha The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain promoters and enhancers. It can also form heterodimers with the related proteins CEBP-beta and CEBP-gamma. The encoded protein has been shown to bind to the promoter and modulate the expression of the gene encoding leptin, a protein that plays an important role in body weight homeostasis. Also, the encoded protein can interact with CDK2 and CDK4, thereby inhibiting these kinases and causing growth arrest in cultured cells. 704404,1625368,1580863,704418 7575576,8758458,15664994,8643605,18450602,18313667,18302931,18263877,18182175,18024476,17989362,17894555,17855628,17851556,17671234,17671233,17671232,17637739,17554374,17504763,17475913,17372916,17347301,17203171,17190859,17188819,17082780,16983342,16893891,16873674,16870193,16858416,16788101,16644732,16537832,16455947,16325577,16226872,16076867,16046528,15928042,15919796,15867211,15855281,15777798,15746035,15684384,15674366,15604894,15575056,15572670,15479564,15340105,15150264,15078966,14766209,14737106,14726504,14701740,14656889,14627805,14517214,12970736,12925529,12915572,12873812,12869508,12861022,12855590,12825852,12757710,12730330,12695546,12692518,12594283,12592334,12554785,12522006,12522000,12511558,12509469,12493739,12477932,12410800,12393450,12351377,12242300,12145325,12091339,12080077,12069855,12036869,12011976,11997389,11978795,11912209,11830484,11818365,11809705,11684017,11242107,10725330,10567568,10470496,9191024,9139739,8288579,1840554,1638120,1535333,1427819,14734562,11302752,15588942,12661007 1625368,704418 1050 NM_004364,AC008738,EU048234,U34070,BC027902,BC063874,X87248,Y11525 NP_004355,ABS82765,AAC50235,AAH27902,AAH63874,CAA60698,CAA72289,P49715,Q6P3S4,Q92657,AAI60133 Hs.699463 GDB:128839 C/EBP-alpha|CEBP ccaat/enhancer binding protein, alpha protein-coding 736208 CEBPB CCAAT/enhancer binding protein (C/EBP), beta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related proteins CEBP-alpha, CEBP-delta, and CEBP-gamma. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses and has been shown to bind to the IL-1 response element in the IL-6 gene, as well as to regulatory regions of several acute-phase and cytokine genes. In addition, the encoded protein can bind the promoter and upstream element and stimulate the expression of the collagen type I gene. 1300293,1300295,1300294,1580863 10821850,2112087,18294142,18198130,18182446,17989362,17928076,17921324,17785586,17705277,17675296,17652082,17620318,17616429,17596295,17583490,17570496,17540774,17513780,17504763,17351148,17335903,17303761,17251582,17203171,16959612,16820889,16785565,16709933,16608438,16563127,16465418,16458921,16453302,16418324,16399783,16318580,16307770,16227626,16026328,16009338,15879117,15878863,15785238,15778453,15777798,15777639,15762841,15710476,15688424,15561713,15498874,15489334,15385533,15381907,15102854,15082764,15044620,14976428,14759369,14729647,14728809,14670999,14645007,14530280,12970736,12947119,12900520,12873812,12857754,12847250,12825852,12821655,12810706,12773552,12748173,12707271,12670924,12665574,12631601,12618752,12574125,12524424,12505790,12496392,12493739,12482935,12479114,12477932,12410800,12393563,12367750,12242300,12213825,12202226,12177065,12167619,12161447,12151100,12095417,12071851,12036869,11997389,11893744,11825899,12706815,12692227,11801594,11792321,11780052,11756662,11751971,11748221,11741938,11726507,11711437,11668178,11596110,11580138,11500490,11466389,11257229,11158330,11018027,10775602,10635333,10619021,10318842,10196196,9885903,9817600,9742105,9712049,9570146,9553145,9506442,9495318,9343424,9169458,9139739,9032301,8972203,8855267,8662954,8622667,8384717,8113688,8040336,7651415,7635140,7594592,1884998,1840554,1741402,1638120,1547942,1535333,1518839,1427819,1314426,17031851,16511829,15775988,12202480 1300293,1300295,1300294 1051 AL161937,AY193834,CH471077,X52560,AF289608,AK291536,BC005132,BC007538,BC021931,BU753628,CR595646,CR596985,CR606949,CR611012,CR614073,CR617287,D63161,M98056,NM_005194 NP_005185,CAC14276,AAN86350,EAW75629,CAA36794,AAL55792,BAF84225,AAH05132,AAH07538,AAH21931,BAA09637,P17676,Q99557,Q9BSC0 Hs.517106,Hs.701858,Hs.712709 GDB:126373 C/EBP-beta|CRP2|IL6DBP|LAP|MGC32080|NF-IL6|TCF5 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H protein-coding 736554 CEBPD CCAAT/enhancer binding protein (C/EBP), delta The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. 1298752,1580863 8314590,18370833,17903252,17562792,17373909,17234736,16997058,16914534,16397300,16322893,16195339,15901830,15718495,15674331,15588942,15486993,15389879,15389878,15212823,12937035,12857754,12825852,12554732,12477932,12177065,11851384,11741938,9570146,8946919,7789168,7594592,1884998,1840554,1741402,1638120 1298752 1052 NM_005195,AC023991,CH471068,S63168,BC094715,BC105109,BQ773696,M83667 NP_005186,EAW86679,AAB27293,AAH94715,AAI05110,AAA59927,P49716,Q504X4 Hs.440829 GDB:132661 C/EBP-delta|CELF|CRP3|NF-IL6-beta ccaat/enhancerbinding, protein (c/ebp) delta protein-coding 733093 CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. 1580863,1300295 17255362,17244686,16918696,16788101,15489334,15308577,12947005,12522000,12515729,12477932,12393450,12202480,12161447,12036869,11861297,11753076,10359588,10233885,9177240,9032264,8661101,1884998,1638120,15588942,17688422,17562868,17483073,17347301 1300295 1053 NM_001805,AL117258,CH471078,U48865,U80982,BC035797,BG387972,CR594219,U48866 NP_001796,EAW66183,AAC50708,AAC51130,AAH35797,AAC50709,Q15744,ABZ92382 Hs.558308 GDB:132660 C/EBP-epsilon|CRP1 protein-coding 735927 CEBPG CCAAT/enhancer binding protein (C/EBP), gamma The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. 1298752,1580863 7665092,7501458,16255782,17893230,16189514,15489334,12805554,12618752,12477932,12177065,8628277,8089482,1884998,1709121,1377818,1371974 1298752 1054 NM_001806,AC008744,BC007582,BC013128,BT019819,BT019820,CB993585,CR607743,CR624171,U20240 NP_001797,AAH07582,AAH13128,AAV38622,AAV38623,AAC50201,P53567,ABM87454,ABW03893 Hs.429666 GDB:132847 GPE1BP|IG/EBP-1 protein-coding 1312755 CEBPZ CCAAT/enhancer binding protein zeta 1580863 2247079,17081983,16565220,15815621,15635413,15489334,12534345,12477932,12446671,11790298,11592063,11306579,8604343 10153 NM_005760,AC007390,CH471053,BC034475,M37197 NP_005751,AAY14815,EAX00403,AAH34475,AAA51924,Q03701 Hs.135406 CBF2|HSP-CBF|NOC1 protein-coding 1347678 CECR cat eye syndrome chromosome region 1055 GDB:119772 1353390 CECR1 cat eye syndrome chromosome region, candidate 1 This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 10756095,16303743,15926889,15489334,15461802,14702039,12477932,11381032,11311551 51816 NM_177405,NM_017424,AC005300,CH471193,AF190746,AK027682,AK074702,AK130725,AK292689,BC051755,BX111961,CR456417,AB209648 NP_803124,NP_059120,EAW57750,EAW57751,AAF65941,BAB55293,BAC11148,BAF85378,AAH51755,CAG30303,Q59F13,Q8NCJ2,Q9NZK5,BAD92885,CAK54409,CAK54708,ABZ92046 Hs.170310 GDB:10795418 ADGF|IDGFL protein-coding 1350048 CECR2 cat eye syndrome chromosome region, candidate 2 1580863 12762840,11827465,15640247,14702039,11381032,11214970 27443 NM_031413,AC004019,AB051527,AF336133,AF411609,AK091754,AL832377,BX647449 NP_113601,BAB21831,AAK15343,AAL07393,BAC03740,CAH56212,CAH56122,Q8NB04,Q9BXF3,AAI66664 Hs.658723 GDB:10796018 KIAA1740 protein-coding 1346490 CECR3 cat eye syndrome chromosome region, candidate 3 11381032 27442 AF277398 Hs.517394 GDB:10796019 protein-coding 1344655 CECR4 cat eye syndrome chromosome region, candidate 4 11381032 27441 AF307448 AAK30048,Q9BXQ7 Hs.660066 GDB:10796020 protein-coding 1315242 CECR5 cat eye syndrome chromosome region, candidate 5 1580863 15862967,15489334,14702039,12477932,11381032 27440 NM_017829,NM_033070,AC006946,CH471193,AF273270,AF273271,AK000461,AK001034,AK123646,AL833450,BC042540,BF515203,BM558767,CR596430,CR598180,CR600657,CR601915,CR606299,CR608179,CR610650,CR612464,CR615797,CR616678,CR621415,CR622021,CR622420,CR626647 NP_060299,NP_149061,EAW57747,EAW57748,AAK19151,AAK19152,BAA91180,BAA91475,AAH42540,Q9BXW7 Hs.26890 GDB:10796021 protein-coding 1349802 CECR6 cat eye syndrome chromosome region, candidate 6 14702039,11381032 27439 NM_031890,AC006946,CH471193,AF307451,AK055398,AK095437,AK095609 NP_114096,EAW57744,AAK30049,Q9BXQ6 Hs.209577 GDB:10796022 protein-coding 1350853 CECR7 cat eye syndrome chromosome region, candidate 7 14702039,12483300,12477932,11381032 27438 XM_927968,XM_937485,NR_015352,AC006946,AK098045,AY026052,BC043198 XP_933061,XP_942578 Hs.129751 GDB:10796023 SAHL1 miscrna 1342854 CECR8 cat eye syndrome chromosome region, candidate 8 11381032 27437 NR_003607,AC007064,AY026053 Hs.143955 GDB:10796024 pseudo 1349309 CECR9 cat eye syndrome chromosome region, candidate 9 11381032 30847 AF307449 Hs.542791 GDB:10796163 protein-coding 737498 CEL carboxyl ester lipase (bile salt-stimulated lipase) The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. 1300048,1580863 2318975,7350912,7578248,2265692,7350913,12031288,1854805,18037996,17005819,16369531,16266293,15841033,15114370,12853459,12821548,12721789,12477932,12166660,12110666,11945176,11733511,11563913,11148205,11045623,10024660,9813053,9774442,9530636,9445398,9404644,9353334,9244386,8601635,8424803,7768954,7691717,7654718,7588748,7514266,3995055,2600091,2066663,1991511,1988041,1698625,1676983,1639390,1627550 1056 S70517,S79774,X54457,NM_001807,AF072711,AL162417,CH471090,CS180412,M94579,S40178,AF081673,BC042510,M85201 AAA52014,AAB35488,CAA38325,O75612,NP_001798,AAC26514,CAI13412,EAW88030,EAW88031,EAW88032,EAW88033,CAJ40733,AAA51973,AAB22537,AAC71012,AAH42510,P19835,Q5T7U7,Q86SR3,Q9UMB1,Q9UP41 Hs.533258 GDB:127527 BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8 carboxyl ester lipase protein-coding 1351727 CELIAC2 celiac disease 2 11415521,11840196 317782 1353568 CELIAC3 celiac disease 3 10372542,11098935 317783 1351252 CELIAC4 celiac disease 4 14517787 378773 1348182 CELP carboxyl ester lipase pseudogene 7691717,3909943,1639390,1627550 1057 NR_001275,AF072711,AL162417,M94580,L14813 AAA16357,Q14018 Hs.654361 CELL|FLJ25862|cell1|cell2|cell3 pseudo 1354258 CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. 1580863,2293492 9339365,10716726,15489334,12782967,12477932,11807409,11086974,10835267,10591208,10380929,16009131 2293492 9620 NM_014246,AL021392,AL031588,AL031597,CH471138,AF231024,AL831846,BC000059,BC013631 NP_055061,EAW73428,EAW73429,AAF61930,CAD38552,AAH00059,Q8NDT0,Q9NYQ6 Hs.252387 GDB:9837613 CDHF9|DKFZp434P0729|FMI2|HFMI2|ME2 protein-coding 733345 CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. 68762,1580863 10907856,18193044,18179892,14702039,10716726,10380929,9693030,9039502 68762 1952 NM_001408,AB065955,AL390252,CH471122,AF234887,AK124727,AK127086,AK127745,D87469 NP_001399,BAC06168,CAI13170,EAW56372,AAG00080,BAC86821,BAC87111,BAA13407,Q5T2Y7,Q6ZS44,Q6ZSX5,Q9HCU4 Hs.57652 GDB:9785449 CDHF10|EGFL2|FLJ34118|FLJ42737|FLJ45143|FLJ45845|Flamingo1|KIAA0279|MEGF3 protein-coding 1342685 CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. 68762,1580863 15203201,12477932,12421765,10790539,10716726,10380929,9693030,8889548 68762 1951 NM_001407,AC005923,AC121252,CH471055,AA411204,AB011536,AF231023,BC111703,BC111746,BU738328 NP_001398,EAW64914,BAA32464,AAF61929,AAI11704,AAI11747,Q14DU8,Q9NYQ7 Hs.631926 GDB:9836961 CDHF11|EGFL1|FMI1|HFMI1|MEGF2|RESDA1 protein-coding 1605138 CEMP1 cementum protein 1 17509525,16263347,8889548 752014 NM_001048212,AC093525,AY584596,BM681118 NP_001041677,AAT01221,Q6PRD7,AAI52784,AAI56603 Hs.433499 CP-23|CP23 protein-coding 1602711 CEND1 cell cycle exit and neuronal differentiation 1 The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. 16713569,16344560,16181419,15489334,14702039,12477932,11311134 51286 NM_016564,AP006621,AY304478,CH471158,CQ782498,AF235030,AK074547,BC034732,CR623643,CR625212,CR625795,DA066200 NP_057648,AAP57306,EAX02384,CAF85783,AAF60309,BAC11051,AAH34732,Q8N111 Hs.22140 BM88|FLJ90066|MGC34326 protein-coding 1349480 CENPA centromere protein A Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. CENPA encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. CENPA is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 7962047,11084331,18072184,18007590,17651496,17388661,17339380,17244537,17199038,17081983,16622420,16622419,15815621,15702419,15489334,15475964,15282608,15085137,15009096,14667408,12839935,12477932,12217960,12019018,12011073,11884609,11756469,11053442,10759786,9605877,9475158,9024683,2023923 1058 NM_001809,NM_001042426,AC011740,CH471053,U82609,BC000881,BC002703,BC011013,BT007246,CR590207,CR595898,CR623149,CR626752,U14518 NP_001800,NP_001035891,AAX93266,AAX93267,EAX00669,EAX00670,EAX00671,EAX00672,AAB47505,AAH00881,AAH02703,AAH11013,AAP35910,AAA57416,P49450,Q96AZ2,Q96FF4 Hs.1594 GDB:118767 CENP-A centromere protein a, 17kda protein-coding 1312443 CENPB centromere protein B, 80kDa This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. 1580863 1893793,18072184,17968937,17258208,16713569,16565220,16183641,15635413,15634350,15489334,15009096,14612452,14522975,12477932,12217960,12011073,11884609,11812799,11780052,9451007,8406460,8198697,7896278,7862152,2435739,2335558,1740467,1469042 1059 NM_001810,AL109804,CH471133,X55039,AF002713,AF002714,BC003649,BC012297,BC021577,BC033658,BC040446,BC053847,CR591718,X05299 NP_001801,CAC17547,EAX10502,CAA38879,Q71VN3,Q71VN4,Q96EI4,AAB70165,AAB70166,AAH12297,AAH53847,CAA28918,P07199 Hs.516855,Hs.706443 GDB:118768 protein-coding 1354407 CENPC1 centromere protein C 1 Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. 1580863 1339310,17651496,17623812,17287400,17081983,16716197,16622419,16565220,15272016,15009096,14612452,12490152,12477932,12006616,11925107,9645950,9261558,8941372,8702533,7959789,14578343 1060 NM_001812,AC104806,AC109356,AF151723,CH471057,BC030695,BC041117,BX648166,CD710556,M95724 NP_001803,AAF73191,EAX05545,EAX05546,AAH30695,AAH41117,AAA51974,Q03188,Q6PIR0,Q8IW27 Hs.479867 GDB:9786127 CENP-C|CENPC|MIF2|hcp-4 protein-coding 1350876 CENPC2 centromere protein C2, 140kDa pseudogene 12490152,8406460,7959789 1061 NG_003044,AC010201 GDB:118769 CENPC centromere protein c2, 140kda pseudo 1316119 CENPE centromere protein E, 312kDa Centrosome-associated protein E is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. CENPE is proposed to be one of the motors responsible for mammalian chromosome movement and/or spindle elongation. 1580863 9763420,9363944,1406971,2022189,11084331,18374647,17535814,17268814,17081983,16926026,16565220,16144904,15297875,15236970,15181147,15159587,15146197,12686615,11337467,10852915,10477750,9744883,9391217,7889940,7851898 1062 NM_001813,AC079919,CH471057,AA210728,AA210858,AB209996,AK290362,AL596934,AU100312,AW499901,BQ231878,BQ434767,BQ447425,CD644410,CN418651,Z15005 NP_001804,EAX06169,EAX06170,EAX06171,BAE06078,BAF83051,CAA78727,Q02224 Hs.75573 GDB:361164 KIF10 protein-coding 1352971 CENPF centromere protein F, 350/400ka (mitosin) This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. 1580863 9891037,12974617,7642639,15677469,7651420,12154071,12507285,15927522,16252009,15870278,10373470,12467231,7542657,7904902,17600710,17205517,17081983,16964243,16601978,16565220,16456711,16219694,14720137,11549288,10852915,9950165,9763420,9497340,7851898,7612011,15654331 1063 NM_016343,AL445305,AL445666,CH471100,BG680819,BQ774943,BU155312,BU662228,CD654009,CR597113,U19769,U25725,U30872 NP_057427,EAW93350,AAA82889,AAA86889,AAA82935,Q9UHT7,P49454 Hs.497741 GDB:361165 CENF|PRO1779|hcp-1 protein-coding 1312617 CENPH centromere protein H Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. 1580863 11092768,17651496,17255272,16875666,16716197,16622420,16622419,15930286,15713649,15502821,15489334,15009096,14536089,12477932,17353931 64946 NM_022909,AC022107,CH471137,CS300652,AB035124,AK123761,AK290746,BC012024,BC015355,CR591291,CR616601 NP_075060,EAW51304,EAW51305,CAK32316,BAB18635,BAF83435,AAH12024,AAH15355,Q9H3R5,ABM85584 Hs.631967 GDB:11504489 NNF1|PMF1 protein-coding 733555 CENPI centromere protein I The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. This gene is also a potential candidate for human X-linked disorders of gonadal development and gametogenesis. 1580863 8921378,16716197,16622420,16622419,16565220,15772651,15489334,15009096,12640463,12477932,7758824,1538749 2491 NM_006733,AL109963,CH471115,BC005967,BC012462,BG114761,BQ224168,M78295,X97249 NP_006724,CAB72340,CAI42266,CAI42267,CAI42268,EAX02840,EAX02841,EAX02842,EAX02843,AAH12462,CAA65884,Q5JX01,Q5JX02,Q92674 Hs.318398,Hs.348920 GDB:3969665 CENP-I|FSHPRH1|LRPR1|Mis6 protein-coding 1321379 CENPJ centromere protein J This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. 1580863 11003675,15047868,16900296,16713569,16631324,16516142,16344560,16316625,15793586,15687488,15489334,15057823,14702039,12843329,12477932,12198240,11984006,11592063,8889548 55835 BC113662,BC113664,BU687310,DB029167,NM_018451,AL354798,CH471075,AF139625,AF141337,AF141343,AF217509,AJ303006,AK123551,AK292406,AL833182,BC024209,BC092467,BC113110,BC113111 AAI13112,AAI13663,AAI13665,Q2KHM5,Q569I1,Q5JPD5,Q5T6R6,Q9C061,Q9HC77,Q9NZ89,NP_060921,CAI16634,CAI16635,EAX08351,EAX08352,EAX08353,EAX08354,AAG21074,AAG49440,AAG49446,AAF67620,CAC80028,BAF85095,CAI46195,AAH24209,AAH92467,AAI13111 Hs.513379 GDB:11508334 BM032|CPAP|LAP|LIP1|MCPH6|MGC131581|MGC131582|MGC142222|MGC142224 protein-coding 1605966 CENPK centromere protein K CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 16716197,16622420,16622419,15489334,15009096,12477932,10996314,8950979 64105 NM_022145,AC008560,AC016620,CH471137,AF315941,AY009151,BC005400,BC008504,CR593673,CR596611 NP_071428,EAW51353,EAW51354,AAL26880,AAG31004,AAH05400,AAH08504,Q9BS16,ABM83467,ABM86678 Hs.529778 AF5alpha|CENP-K|FKSG14|P33|Solt protein-coding 1605310 CENPL centromere protein L CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM] 16716197,16710414,16622420,16622419,16344560,15489334,15009096,14702039,12477932 91687 NM_001127181,AL109921,CH471067,AK055606,AK056348,BC007071,BC007923,BC019022,BC033154,NM_033319,BC066658,CR617320,DA472686,DB244459 NP_201576,NP_001120653,CAI20378,CAI20379,EAW90956,EAW90957,EAW90958,EAW90959,BAB70968,BAB71159,AAH07071,AAH33154,AAH66658,Q8N0S6,Q96MW3 Hs.709941 C1orf155|CENP-L|FLJ31044|FLJ31786|RP3-383J4.1|dJ383J4.3 protein-coding 1316428 CENPM centromere protein M The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPM is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 16716197,16622420,16622419,16391015,15489334,15461802,15183305,15009096,14702039,12529303,12477932,10591208 79019 NM_024053,NM_001110215,CH471095,Z99716,AK123479,AL160131,BC000705,BC007495,BE797487,BU556693,CR456399,CR457392,CR604562,CR613838,CR617812,CR620369,EU035297,NM_001002876 NP_076958,NP_001103685,EAW60474,EAW60475,EAW60476,CAI41691,CAQ07551,BAC85624,CAB77147,AAH00705,AAH07495,CAG30285,CAG33673,ABS84666,Q9NSP4,NP_001002876 Hs.208912 GDB:11505382 C22orf18|CENP-M|MGC861|PANE1|bK250D10.2 chromosome 22 open reading frame 18 protein-coding 1603636 CENPN centromere protein N The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPN is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 17081983,16716197,16622420,16622419,15489334,15009096,14702039,12477932 55839 NM_001100624,NM_018455,AC092718,CH471114,AF217515,AK023669,AK026313,AW085187,BC007334,BC008972,BC039021,BQ013821,NM_001100625 NP_001094095,NP_001094094,NP_060925,EAW95553,EAW95554,EAW95555,EAW95556,AAF67626,AAH07334,AAH08972,Q96H22 Hs.55028 BM039|C16orf60|CENP-N|FLJ13607|FLJ22660 protein-coding 1603956 CENPO centromere protein O CENPO is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 16716197,16622420,16622419,16189514,15815621,15489334,15009096,14702039,12477932 79172 NM_024322,AC012073,AC013459,CH471053,AK027859,BC002870,CR592453,CR599751,CR617150 NP_077298,AAY14786,AAX93185,EAX00742,EAX00743,EAX00744,BAB55414,AAH02870,Q53SX2,Q9BU64 Hs.467898 CENP-O|MGC11266 protein-coding 1603809 CENPP centromere protein P CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 16622420,16622419,15489334,15164053,14702039,12477932 401541 NM_001012267,AL136097,AL137848,AL157827,CS063592,AK091247,AK092603,AL833701,BC071726,BX537851,CR592049,CR597952 NP_001012267,CAI16210,CAI12591,CAI12592,CAI12594,CAI84531,AAH71726,CAD97859,Q6IPU0,Q7Z672 Hs.708360 CENP-P|FLJ33928|RP11-19J3.3 protein-coding 1344338 CENPQ centromere protein Q CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM] 16622420,16622419,15489334,14702039,14574404,12477932 55166 NM_018132,NG_007100,AL590244,AL590668,CH471081,AA460110,AA811376,AI039464,AK001407,AK293016,BC016279,BI768787 NP_060602,CAI13088,CAI14313,EAX04332,EAX04333,BAA91672,BAF85705,AAH16279,Q7L2Z9 Hs.88663 C6orf139|CENP-Q|FLJ10545 chromosome 6 open reading frame 139 protein-coding 1604795 CENPT centromere protein T The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 8125298,16716197,16622420,16622419,16565220,15489334,15009096,14702039,12477932,9373149 80152 NM_025082,AC040162,CH471092,AK023173,AK055237,AK056097,AK125366,AK225399,AK291527,BC007642,BC007864,BC015202,BC042204,BX648617,CD242240,CR594299,CR594388,CR598711,CR600277,CR600643,CR601879,CR611547,CR613934,CR619541,CR625330,CR625684 NP_079358,EAW83178,EAW83179,BAB14445,BAB70884,BAF84216,AAH07642,AAH07864,AAH15202,Q96BT3 Hs.288382 C16orf56|CENP-T|FLJ13111|FLJ43376 protein-coding 733651 CENTA1 centaurin, alpha 1 1580863 10333475,10448098,12018390,12893243,16805830,16341594,16287813,15778454,15679100,15489334,15106847,14702039,14690521,14625293,12761501,12565890,12499840,12477932,11869802,11278595,16189514 11033 NM_006869,AC073957,CH236965,CH471144,AB097049,AF082324,AI910700,AJ006422,AK092471,AK124979,AK290517,BC033747,CR607974,CR619954,CR625461,CR975507 NP_006860,EAL23709,EAW87182,EAW87183,EAW87184,BAC77402,AAD11414,CAA07024,BAF83206,AAH33747,O75689 Hs.644629 GDB:9956228 GCS1L|p42IP4 protein-coding 734306 CENTA2 centaurin, alpha 2 1580863 14690521,12018390,16138909,17632510,15489334,12477932,10843809,9373149,8125298 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 Hs.514063 GDB:11505772 HSA272195|cent-b protein-coding 1313339 CENTB1 centaurin, beta 1 1580863 18003747,17664335,17010122,17005562,16777052,16189514,15525538,15489334,12477932,11062263,11050434,7584044 9744 NM_014716,AC026954,CH471108,BC018543,BT009788,CR599042,D30758 NP_055531,EAW90209,EAW90210,AAH18543,AAP88790,BAA06418,Q15027,ABM82645 Hs.337242 GDB:9784455 ACAP1|KIAA0050 protein-coding 1347120 CENTB2 centaurin, beta 2 1580863 18003747,16344560,15592455,15489334,12477932,11062263,11050434,11001876,9373149,8125298,7584044 23527 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,Q53HE5 Hs.654597 GDB:9784414 ACAP2|CNT-B2|KIAA0041 protein-coding 1321777 CENTB5 centaurin, beta 5 1580863 15489334,14702039,12477932,11214970 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,Q5T7K6,Q5T7K7,Q5T7K8,Q5T7M8,Q86UT3,Q8N2W2,Q8N9S2,Q8WTZ1,Q96P50 Hs.535257 GDB:11508883 ACAP3|KIAA1716 protein-coding 1315077 CENTD1 centaurin, delta 1 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. This protein lacks the predicted catalytic arginine in the RHO-GAP domain and is therefore unlikely to have RHO-GAP activity. While the encoded protein does contain a sterile alpha motif (SAM) commonly found in some signaling molecules, the function of the protein has not been determined. Two transcript variants encoding different isoforms have been found for this gene. 1580863 11804589,17081983,9847074,9628581,17077126,15815621,12477932,11804590 116984 NM_015230,NM_139182,AC098827,AC104078,AC108033,AC109818,AC116623,CH471069,AB011152,AF411982,AF439781,AK126864,AW274408,AY049733,BC105089,BC105091,BC150258 NP_056045,NP_631921,AAY40927,EAW92870,EAW92871,EAW92872,BAA25506,AAL04166,AAL32459,AAL12170,AAI05090,AAI05092,AAI50259,Q2M2Z8,Q8WZ64,Q9H8F6 Hs.479451 GDB:11508889 ARAP2|FLJ13675|FLJ44916|KIAA0580|PARX protein-coding 1321262 CENTD2 centaurin, delta 2 The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. The RHO-GAP activity may mediate cell rounding and loss of stress fibers. At least three transcript variants encoding different isoforms have been found for this gene, but the full-length natures of all variants have not been determined. 11804590,11804589,16169070,18003747,17081983,15489334,12477932,12168954,9872452,15607035 116985 NM_139181,NM_015242,AP003065,CH471076,AB018325,AF411983,AJ621557,AJ706973,AK160383,AY049732,AY553630,BC008315,BC021244,BC056401,BQ921498,CD251362,CR612600,NM_001040118 NP_001035207,NP_631920,NP_056057,EAW74863,EAW74864,EAW74865,EAW74866,BAA34502,AAL04167,CAF21317,BAD18726,AAL12169,AAT36325,AAH08315,AAH56401,Q6ZMJ9,Q96P48 Hs.503165 GDB:11508890 ARAP1|KIAA0782 protein-coding 1347923 CENTD3 centaurin, delta 3 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its full-length nature has not been determined. 1580863 11804589,15569923,17314030,15546919,14702039,12832619,12477932,12015138 64411 NM_022481,AC022420,CH471062,AJ310567,AK001579,AK024718,AK091385,AK290052,BC009968,BC025757,BC027880,BX489939 NP_071926,EAW61904,EAW61905,EAW61906,EAW61907,CAC83946,BAB14973,BAF82741,AAH09968,AAH25757,AAH27880,Q05CA7,Q05CH1,Q8WWN8,Q96G49,Q9H7C1 Hs.25277 ARAP3|DRAG1|FLJ21065 protein-coding 1349110 CENTG1 centaurin, gamma 1 1580863 11136977,18374643,18371979,17461797,17297440,17151107,17037982,16841086,16263930,16150119,16079295,15951849,15489334,15118108,14761976,14702039,14528310,12640130,12477932,12388557,11823862,9192850,8724849 116986 NM_014770,NM_001122772,AC025165,CH471054,U81031,AF384128,AK122827,AK292672,AY128689,BC028020,D79989,AF413077 NP_055585,NP_001116244,EAW97048,EAW97049,EAW97050,EAW97051,AAO39848,BAF85361,AAM97540,AAH28020,BAA11484,Q99490,AAC39522,AAL04171 Hs.302435 GDB:9784998 AGAP2|FLJ16430|GGAP2|KIAA0167|PIKE protein-coding 1319477 CENTG2 centaurin, gamma 2 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 18003747,16341674,16079295,15892143,15381706,14702039,12967569,12640130,12477932,12388557,10470851 116987 NM_001037131,NM_014914,AC012305,AC019047,AC064874,AC073989,AC079400,CH471063,AB029022,AF413078,AK001722,AY033765,BC060814,BI868924,BM752978,CB961699 NP_001032208,NP_055729,AAX88857,AAX88852,AAY24137,AAY14697,EAW71078,EAW71079,BAA83051,AAL04172,BAA91862,AAK56506,AAH60814,Q4ZG22,Q4ZG54,Q53RW1,Q53S93,Q9UPQ3 Hs.435039 GDB:11508887 AGAP1|GGAP1|KIAA1099|MGC71657 protein-coding 1321839 CENTG3 centaurin, gamma 3 1580863 16964243,16461359,15381706,14702039,14506264,12690205,12640130,12477932 116988 NM_001042535,AACC02000108,AC010973,CH471173,AB209781,AF359283,AF413079,AK027415,NM_031946,AK055393,AK096352,AL442089,BC020426,BC037543,BC044644,BC048300,BC069236,BU615528,CR624366 NP_114152,NP_001036000,EAL24502,EAW54024,EAW54025,EAW54026,EAW54027,EAW54028,EAW54029,BAD93018,AAK48932,AAL04173,BAB55097,BAC04766,CAC09448,AAH44644,AAH48300,Q6ZNF7,Q86ST5,Q86XV5,Q8N8Q2,Q96P47,Q96T14,Q9H3X2 Hs.647075 GDB:11508888 AGAP3|CRAG|FLJ16146|MRIP-1 protein-coding 1313275 CEP110 centrosomal protein 110kDa This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. 16213214,16112646,15337773,14702039,12732615,12477932,11956314,10965126,10688839,10359848,10187805,8889548 11064 AA287401,AF083322,AF513978,AK074079,AK090600,AK093457,AK097636,AK128098,AL080231,AY651261,BC002932,BC009287,BC089415,BC137284,BC137286,NM_007018,AL137068,BX640927,CF142611 CAI12355,CAI12356,CAI12357,CAI12358,CAI12359,CAI12360,CAM13285,AAC32373,AAP43846,BAB84905,BAC87273,AAX35689,AAH02932,AAH89415,AAI37285,AAI37287,CAD20123,NP_008949,CAE45965,Q5JVD1,Q5JVD2,Q5JVD3,Q5JVD5,Q5JVD6,Q7Z7A1,Q8WX70 Hs.653263 GDB:9956376 CEP1|FAN|bA165P4.1 centrosomal protein 1 protein-coding 1350849 CEP135 centrosomal protein 135kDa 737633 17353931,17081983,15231748,14654843,12477932,9734811,8889548,14702039 737633 9662 NM_025009,AC092627,AC110611,AC118280,AB014535,AK023683,BC012003,BC136535,BC136536,BK005586,BU734129 NP_079285,BAA31610,BAB14639,AAH12003,AAI36536,AAI36537,DAA05590,Q58F25,Q66GS9 Hs.518767 GDB:9957908 CEP4|KIAA0635 protein-coding 1604825 CEP152 centrosomal protein 152kDa 15489334,14654843,12477932,12421765,10048485 22995 NM_014985,AC012379,AC022084,AC084757,CH471082,AB020719,BC069186,BC107721,BC117182,BX648822 NP_055800,EAW77355,BAA74935,AAH69186,AAI07722,AAI17183,O94986,Q17RV1,Q3B7A2 Hs.597323 KIAA0912 protein-coding 1605084 CEP164 centrosomal protein 164kDa 18283122,17954613,16052032,14702039,14654843,12477932,10470851 22897 NM_014956,AP000892,AP001822,CH471065,AB028975,AK001412,AK125995,AL117632,AL137265,AL833532,BC000602,BC054015,BX647583,BX648682,CR592556 NP_055771,EAW67318,EAW67319,EAW67320,EAW67321,BAA83004,BAA91677,BAC86384,CAB56023,CAB70664,AAH00602,AAH54015,Q6ZU43,Q9NTH6,Q9UPV0,AAI52749,AAI56877 Hs.504009 KIAA1052 protein-coding 1605104 CEP170 centrosomal protein 170kDa The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. 15616186,17081983,16710414,16083285,15489334,15342556,15324660,14702039,14654843,12477932,9455484 9859 NM_001042404,NM_001042405,NM_014812,AC092782,AL606534,CH878356,AB007939,AB022657,AB022658,AB022659,AK001664,AL161964,BC050722,BC078155,BC146790,BP349206,BP349680,CB410835 NP_001035863,NP_001035864,NP_055627,CAI12942,CAI12943,CAI12945,EAW50478,BAA32315,BAA83378,BAA83379,BAA83380,AAH50722,AAH78155,AAI46791,Q5SW79,Q5SW80,Q6AZE1,Q9NSN9,CAB82309 Hs.533635 FAM68A|KAB|KIAA0470 protein-coding 1602374 CEP170L centrosomal protein 170kDa-like This locus appears to be a transcribed pseudogene similar to centrosomal protein 170kDa (CEP170). An approximately 50 kb region upstream of this locus also is homologous to CEP170, but is not transcribed. 12477932,16189514 645455 XR_042173,XR_042148,NR_003135,AC092670,BC014590 AAH14590 Hs.408293 FAM68B|KIAA0470|KIAA0470L|MGC26143 pseudo 1605669 CEP192 centrosomal protein 192kDa 18207742,17980596,15862967,14702039,14654843,11230166,10997877 55125 NM_032142,AP001357,AP002449,AA761229,AB046789,AF318363,AK001214,AK074074,AK094448,AK096548,AL136818,AL833494,BX648232,BX649151,CR607085 NP_115518,BAB13395,AAL55870,BAA91559,BAB84900,CAB66752,Q8TEP8,Q9HCK3 Hs.100914 protein-coding 1347521 CEP250 centrosomal protein 250kDa This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternately spliced transcript variants encoding different isoforms have been described. 1580863 9647649,12140259,15489334,15324660,15231748,12857871,12477932,11780052,11076968,11035016,10880350,9506584 11190 NM_007186,NM_001035518,AL121586,CH471077,AF022655,AF049105,AL037087,BC001433,BC071869,BM996444 NP_009117,NP_001030595,CAB89415,CAI42839,CAI42840,CAO03345,CAO03346,EAW76204,EAW76205,EAW76206,EAW76207,AAC06349,AAC07988,AAH01433,AAH71869,Q5JWS5,Q5JWS6,Q6IPL3,Q9BV73 Hs.443976 GDB:9957071 C-NAP1|CEP2|MGC88542 centrosomal protein 2 protein-coding 1321425 CEP27 centrosomal protein 27kDa 737633 14654843,15489334,14702039,12477932,12434312 737633 55142 NM_018097,AC018362,CH471125,CS300643,AK001322,AK022939,BC010903 NP_060567,EAW92566,EAW92567,EAW92568,EAW92569,EAW92570,EAW92571,EAW92572,CAK32307,BAA91623,BAB14319,AAH10903,Q9NVX0 Hs.14347 C15orf25|FLJ10460|HsT17025 chromosome 15 open reading frame 25 protein-coding 1604786 CEP290 centrosomal protein 290kDa This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. 16682973,12493773,14654843,18327255,18079693,17898177,17724218,17705300,17617513,17564974,17564967,17554762,17409309,17345604,17081983,16909394,16682970,16632484,16541075,15474516,14702039,12477932,11162484,11149944,9205841,8889548,14623284 80184 NM_025114,AC091516,BX537653,CH471054,AB002371,AF273044,AF317887,AK023677,AK025632,AY590151,BC008641,BC043398,BK005587,BU676074,DQ109808 NP_079390,EAW97413,EAW97414,BAA20828,AAG34904,AAK01919,BAB14636,BAB15196,AAT01278,AAH08641,AAH43398,DAA05591,AAZ83370,O15078,Q05BJ6,Q6PNN2,Q96HG2 Hs.150444 3H11Ag|BBS14|FLJ13615|FLJ21979|JBTS5|JBTS6|KIAA0373|LCA10|MKS4|NPHP6|SLSN6|rd16 protein-coding 1605105 CEP350 centrosomal protein 350kDa The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. 16341674,16314388,15615782,14702039,14654843,12477932,11891061,9455484,9110174,8889548,8619474,17878239,17081983,16713569,16710414,16565220,16344560 9857 NM_014810,AL353708,AL390718,AL590632,AL645487,CH471067,AB007949,AF287356,AF387614,AK000704,AK022813,AK026986,AK095601,AK126046,AY007149,BC017847,BC033619,BC048310,BM675467,BM787594,BM905228,CR618030,DA716735,DB072323 NP_055625,CAI14833,CAI14834,CAI14835,CAI14836,CAI15177,CAM21477,CAH72345,CAH72346,EAW91070,EAW91071,EAW91072,EAW91073,BAA32325,AAL55733,AAL91355,AAH17847,Q05D72,Q5T2X2,Q5T2X4,Q5VT06,Q7LGH1 Hs.413045 CAP350|FLJ38282|FLJ44058|GM133|KIAA0480|RP11-502H18.1 protein-coding 1313311 CEP55 centrosomal protein 55kDa 17853893,17556548,17237822,17081983,16790497,16406728,16344560,16198290,16189514,15489334,15164054,14702039,12477932,9373149,8125298 55165 NM_018131,NM_001127182,AL356214,CH471066,CS158015,AB091343,AK001402,AK223495,AY788918,BC008947,BX640718,CR604604,CR617073,CR623893,DA545074 NP_060601,NP_001120654,CAH72324,CAH72325,EAW50071,EAW50072,CAJ29952,BAE45243,BAA91670,BAD97215,AAX14687,AAH08947,CAE45837,Q53EZ4 Hs.14559 GDB:11510632 C10orf3|FLJ10540|URCC6 protein-coding 1602500 CEP57 centrosomal protein 57kDa Translokin binds basic fibroblast growth factor (FGF2; MIM 134920) and mediates its nuclear translocation and mitogenic activity (Bossard et al., 2003 [PubMed 12717444]).[supplied by OMIM] 12717444,12954732,10942595,14654843,15489334,14702039,12477932,12421765,7788527,15607035 9702 NM_014679,AP001877,CH471065,AK098647,AK125164,AK291245,AY225092,AY239292,BC001233,BC009053,BC029385,BC031048,BC039711,BG699097,CR605423,CR614205,D42054 NP_055494,EAW66965,EAW66966,EAW66967,EAW66968,EAW66969,EAW66970,BAF83934,AAO73938,AAP72184,AAH01233,AAH29385,AAH39711,BAA07654,Q5JB46,Q86XR8 Hs.101014 KIAA0092|PIG8|TSP57 protein-coding 1602096 CEP63 centrosomal protein 63kDa This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. 12812986,14654843,16410684,16344560,16189514,15489334,14702039,12477932,11329013 80254 NM_001042384,NM_001042383,NM_001042400,NM_025180,AC010207,AC026117,AC109912,AC139764,CH471052,AA746981,AF113697,AK023448,AK023738,AK054897,AK056465,AK123837,BC014050,BC068997,BG182631,BI561425,BK005503,BX499930,CX751767,DB011963,N36992 NP_001035843,NP_001035842,NP_001035859,NP_079456,EAW79136,EAW79137,EAW79138,EAW79139,EAW79140,EAW79141,EAW79142,BAB14578,BAB14662,BAB71192,AAH14050,DAA05503,Q96MT8,AAH68997 Hs.443301 FLJ13386|MGC78416 protein-coding 1319252 CEP68 centrosomal protein 68kDa 18042621,17570516,17194215,15815621,15489334,14702039,14654843,12477932,12168954,12107410,9847074,9628581 23177 NM_015147,AC007318,AC007386,AC084278,CH471053,AB011154,AK000856,AK093846,AK094069,AK098786,BC002982,BC004873,BC030534,BX648774,CA398160,CR595830 NP_055962,AAF03518,AAY14962,EAW99926,EAW99927,EAW99928,EAW99929,BAA25508,AAH02982,AAH04873,AAH30534,CAI46022,Q05C09,Q53RN6,Q5HYA6,Q76N32 Hs.709257 GDB:9955050 FLJ25920|FLJ36750|KIAA0582 protein-coding 1601960 CEP70 centrosomal protein 70kDa 16713569,16189514,15489334,14702039,14654843,12477932,9373149,8125298 80321 NM_024491,AC020890,AC022497,AC072045,CH471052,BC030598,BM908227,AF202146,AF289495,AK023098,AK225440,BC016050,BU634409,BX331994 NP_077817,EAW79060,EAW79061,AAH30598,EAW79062,EAW79063,AAG35616,AAG35791,BAB14403,AAH16050,Q8NHQ1 Hs.531962 BITE|FLJ13036 protein-coding 1603993 CEP72 centrosomal protein 72kDa The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. 17081983,15489334,14702039,14654843,12477932,12168954,10819331,16189514 55722 NM_018140,AC026740,AC106772,CH471235,AB040952,AK001427,BC000132,BC001750,BG718176 NP_060610,EAW51011,EAW51012,EAW51013,BAA96043,BAA91685,AAH00132,AAH01750,Q9P209 Hs.591741 FLJ10565|KIAA1519|MGC5307 protein-coding 1313060 CEP76 centrosomal protein 76kDa 737633 16713569,16189514,15489334,14702039,14654843,12477932 737633 79959 NM_024899,AP005482,CH471113,AK022604,AL833727,BC026307,BC033026 NP_079175,EAX01543,BAB14123,CAH56252,AAH26307,Q8TAP6 Hs.236940 C18orf9|FLJ12542|HsT1705 protein-coding 1346976 CEP78 centrosomal protein 78kDa 737633 16344560,14702039,14654843,12477932 737633 84131 NM_001098802,NM_032171,AL353705,AK022705,BC058931,BC091515,BC128058,CA429071,DA970400 NP_001092272,NP_115547,CAI40237,CAI40238,CAI40239,CAI40240,BAB14190,AAH91515,AAI28059,Q5JTV9,Q5JTW2 Hs.374421 C9orf81|FLJ12643|IP63|MGC135040 protein-coding 1343045 CEP97 centrosomal protein 97kDa 737633 18068367,17719545,15489334,14702039,12477932,9373149,8125298 737633 79598 AC084198,CH471052,AK026700,AK093100,AK129972,AK225573,AL833269,BC041085,NM_024548 NP_078824,EAW79777,EAW79778,BAB15531,BAC04055,AAH41085,Q8IW35 Hs.444135 2810403B08Rik|FLJ23047|FLJ26462|LRRIQ2|lrriq2 leucine-rich repeats and iq motif containing 2 protein-coding 1352373 CEPA congenital episodic primary apnea 1064 GDB:581848 1345389 CEPT1 choline/ethanolamine phosphotransferase 1 Cholinephosphotransferase catalyses the final step in the synthesis of phosphatidylcholine by the transfer of phosphocholine from CDP-choline to diacylglycerol. The synthesis of phosphatidylethanolamine by ethanolaminephosphotransferase occurs using an analogous reaction. This gene codes for a choline/ethanolaminephosphotransferase. The protein can synthesize either choline- or ethanolamine- containing phospholipids. Two alternatively spliced transcripts encoding the same isoform have been identified. 1580863 10191259,14702039,12477932,12216837 10390 NM_001007794,NM_006090,AL355816,CH471122,AF068302,AF138862,AK023381,AL832104,AL833102,BC032610,BC049196,BX487092,CR602494,CR612795,CR616896 NP_001007795,NP_006081,EAW56469,EAW56470,EAW56471,EAW56472,AAD25170,AAF61194,CAH10403,AAH32610,AAH49196,Q9Y6K0 Hs.363572,Hs.636850 GDB:9956500 DKFZp313G0615|MGC45223 protein-coding 1347243 CER1 cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. 1580863 15621726,17029022,15489334,15340161,15164053,12477932,10049596,9501024 9350 NM_005454,AF090189,AL390732,CH471071,AF400435,BC069371,BC069405,BC069491,BC069503,BC103976,BC103977,BU071333,CD652441 NP_005445,AAD19879,EAW58691,AAK92484,AAH69371,AAH69405,AAH69491,AAH69503,AAI03977,AAI03978,O95813,Q3SY34 Hs.248204 GDB:9864799 DAND4|MGC119894|MGC119895|MGC96951 cerberus 1 homolog, cysteine knot superfamily (xenopus laevis) protein-coding 1312417 CERCAM cerebral endothelial cell adhesion molecule 1580863 10608765,12477932,10819331 51148 BC119699,BC152421,BX358794,CA447908,NM_016174,AL359091,CH471090,CQ782450,CQ782458,AB040935,AF177203,AF218016,AK074519,AK074523,BC011811,BC098432,BC108698,BC119698 AAI19700,AAI52422,Q5T4B2,Q5T4D2,Q9HBP2,AAI19699,NP_057258,CAI13494,CAI13495,CAI13496,CAI13497,EAW87787,EAW87788,EAW87789,EAW87790,CAF85736,CAF85744,BAA96026,AAD51367,AAG17258,BAC11036,BAC11040,AAH11811,AAH98432,AAI08699 Hs.495230 CEECAM1|GLT25D3|MGC149620|MGC149621 protein-coding 1312799 CERK ceramide kinase CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM] 1580863 11956206,10947957,18156590,17957442,17392267,17274985,16488390,16269826,16170208,16081073,15899891,15489334,15461802,14769792,12855693,12477932,11258795,10591208,9837889 64781 NM_022766,AL096766,AL118516,CH471138,AB051433,AB079066,AJ457828,AK025083,AK026892,AK291476,AL137600,AL832794,BC004278,BC008382,BC067255,BC108712,BC126940,BQ710170,BU187541,CR456404,CR457365,CR597559,CR609594 NP_073603,CAI18819,EAW73438,EAW73439,EAW73440,EAW73441,EAW73442,BAB33316,BAC01154,CAD29884,BAB15585,BAF84165,AAH04278,AAH67255,AAI08713,AAI26941,CAG30290,CAG33646,Q6I9Z0,Q6NX59,Q8TCT0,Q9H5N7,CAK54380,CAK54679 Hs.200668 GDB:11510774 DKFZp434E0211|FLJ21430|FLJ23239|KIAA1646|LK4|MGC131878|dA59H18.2|dA59H18.3|hCERK protein-coding 1346381 CERKL ceramide kinase-like Ceramide kinases convert the sphingolipid metabolite ceramide into ceramide-1-phosphate, both key mediators of cellular apoptosis and survival. Ceramide metabolism plays an essential role in the viability of neuronal cells, the membranes of which are particularly rich in sphingolipids (Tuson et al., 2004 [PubMed 14681825]).[supplied by OMIM] 1600829 18055789,16581028,15708351,14702039,14681825,12477932,11956206,9507394 1600829 375298 NM_201548,NM_001030312,NM_001030313,NM_001030311,AC013733,AC020595,CH471058,AJ640141,AJ697855,AJ697856,AJ697858,AK129976,AY357073,AY690329,AY690330,AY690331,AY690332,AY690333,BC137498,BC137499 NP_963842,NP_001025483,NP_001025484,NP_001025482,EAX10984,CAG26695,CAG26977,CAG26978,CAG26980,BAC85266,AAR13670,AAW47988,AAW47989,AAW47990,AAW47991,AAW47992,AAI37499,AAI37500,Q49MI3,Q5DVJ3 Hs.440955 RP26 protein-coding 1352960 CES1 carboxylesterase 1 (monocyte/macrophage serine esterase 1) Carboxylesterase 1 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the hydrolysis of ester- and amide-bond-containing drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters and thioesters. This enzyme is known to hydrolyze aromatic and aliphatic esters and is necessary for cellular cholesterol esterification. It may also play a role in detoxification in the lung and/or protection of the central nervous system from ester or amide compounds. Carboxylesterase deficiency may be associated with non-Hodgkin lymphoma or B-cell lymphocytic leukemia. Three transcript variants encoding three different isoforms have been found for this gene. 1580863 8218228,1918003,18485328,18328811,18305377,17764701,17537833,16971496,16962139,16419644,16344560,16282638,15931389,15489334,15475733,15475243,15188402,12960109,12773168,12725862,12721789,12679808,12477932,12022871,11950776,11812220,11409902,11015575,10562416,10518925,10452915,9003459,8406473,8049197,2612723,2070086,1997784,1748313,16189514,9311626 1066 AK292209,AU139632,AY268104,BC009706,BC012418,BC110338,CB137639,L07764,L07765,M55509,M65261,M73499,S73751,X52973,NM_001025195,NM_001025194,NM_001266,AB119997,AB119998,AB187224,AB187225,AB210087,AB210088,AB210089,AB210090,AC147362,AY033590,CH471092,D21088,X96751,AB025026,AB119995,AB119996,AF177775,AK290623 BAF84898,AAP20868,AAH09706,AAH12418,AAI10339,AAA16036,AAA35711,AAA35650,AAA83932,AAA35649,AAC60631,CAA37147,P23141,Q2WG84,Q6LAP9,Q6PJZ3,ABM82398,ABM85582,BAF83312,NP_001020366,NP_001020365,NP_001257,BAC87750,BAC87751,BAE48735,BAE48736,BAE48737,BAE48738,BAE48739,BAE48740,EAW82838,EAW82839,EAW82840,BAA04650,CAA65527,BAA84995,BAC87748,BAC87749,AAD53175 Hs.558865 GDB:128044 ACAT|CEH|CES2|HMSE|HMSE1|MGC117365|PCE-1|SES1|TGH protein-coding 736535 CES2 carboxylesterase 2 (intestine, liver) Carboxylesterase 2 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the hydrolysis of ester- and amide-bond-containing drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters and thioesters. The specific function of this enzyme has not yet been determined; however, it is speculated that carboxylesterases may play a role in lipid metabolism and/or the blood-brain barrier system. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 9169443,9144407,18473752,18305377,18259949,17764701,17640957,17537833,17483951,16963839,16690525,16381901,16344560,15967118,15618752,15592324,15489336,15489334,15475733,15475243,14702039,12960109,12835618,12721789,12477932,12417987,11230166,11076863,10452915,9373149,8125298 8824 NM_198061,AC009084,AY851164,CH471092,AI601196,AK095522,AK222724,AK290482,AL713761,AU137474,BC032095,BC071874,BC098417,BX538086,D50579,U60553,Y09616,NM_003869 NP_003860,NP_932327,AAW29943,EAW83057,EAW83058,EAW83059,BAD96444,BAF83171,CAD28531,AAH32095,AAH71874,AAH98417,CAD98009,BAA23606,AAB03611,CAA70831,O00748,Q0JV01,Q4G0E9,Q53H57,Q6IPK9,CAL37659,ABM83948,ABM87755 Hs.282975 GDB:9959011 CE-2|CES2A1|PCE-2|iCE protein-coding 735260 CES3 carboxylesterase 3 (brain) Carboxylesterase 3 is a member of a large multigene family. The enzymes encoded by these genes are responsible for the hydrolysis of ester- and amide-bond-containing drugs such as cocaine and heroin. They also hydrolize long-chain fatty acid esters and thioesters. The specific function of this enzyme has not yet been determined; however, it is speculated that carboxylesterases may play a role in lipid metabolism and/or the blood-brain barrier system. 14702039,14581373,12975309,12477932,11181995,10518925,7916639,15188402,15100172 23491 NM_024922,AC009084,CH471092,AK000105,AK025158,AK025171,AK025389,AK097538,AY358609,BC053670,CR618303 NP_079198,EAW83060,BAB15123,BAC05093,AAQ88972,AAH53670,Q6UWW8,Q8N7Y3,Q9H6X7 Hs.268700 GDB:9956641 ES31|FLJ21736 carboxylesterase 3 protein-coding 1344824 CES4 carboxylesterase 4-like 1580863 10452915 51716 NR_003276,AC136621,AC147362,CH471092,AF106005,BC131699 EAW82836,EAW82837,AAF14185,AAI31700,Q9UKY3 Hs.632213 CES1A3|CESR|PCE-3 pseudo 1606422 CES7 carboxylesterase 7 14702039,12477932,12401131 221223 NM_145024,AC147362,CH471092,AK056109,AK090997,AY907669,BC039073,BC069501,BC069548,BC117126 NP_659461,EAW82841,EAW82842,EAW82843,EAW82844,BAB71094,BAC03565,AAX86044,AAH69501,AAH69548,AAI17127,Q6NT32 Hs.350800 CAUXIN|CES4C1|CES5|FLJ31547 protein-coding 1344937 CETN1 centrin, EF-hand protein, 1 The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This encoded protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. 1580863 8175926,16760425,16246726,15489334,12477932,11279195,10725219,16101678 1068 NM_004066,AP001178,CH471113,BC029515,CR590315,CR601265,U03270 NP_004057,EAX01727,AAH29515,AAC27343,Q12798,ABM81896,ABM85070 Hs.122511 GDB:4573957 CEN1|CETN protein-coding 736112 CETN2 centrin, EF-hand protein, 2 Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. 1580863 8248209,12802058,11256614,18177054,18172010,17603931,17081983,16820684,16627479,16533048,16464125,16411764,16381901,15964821,15489336,15489334,15356003,14504268,12890685,12578356,12477932,12176356,11279143,11076863,10854409,10788612,9665797,8597638,7713520,14767062,16101678,16189514 1069 NM_004344,AY919675,CH471172,BC005334,BC013873,BT007256,CR593366,CR605856,X72964 NP_004335,AAW82436,EAW72900,AAH05334,AAH13873,AAP35920,CAA51467,P41208,Q0JU94,CAL37917 Hs.82794 GDB:269853 CALT|CEN2 centrin 2 protein-coding 733085 CETN3 centrin, EF-hand protein, 3 (CDC31 homolog, yeast) The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. 1580863 9256449,16169070,15654740,15489334,14731449,14711432,12477932,11279195,10725219,9843852,9004043,8798410,16101678 1070 NM_004365,AC093510,CH471084,BC005383,BC093793,BC112040,BT006688,BU633961,CB988525,CB998764,CR450346,Y12473 NP_004356,EAW95977,AAH05383,AAH93793,AAI12041,AAP35334,CAG29342,CAA73077,O15182,Q6ICP7 Hs.591767 GDB:6837725 CEN3|MGC12502|MGC138245 protein-coding 1345977 CETP cholesteryl ester transfer protein, plasma Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters between lipoproteins. CETP may effect susceptibility to atherosclerosis. 1580358,1580359,1600654,1580863 2833496,3600759,2586614,8132678,3104518,18454345,18393253,18354102,18289550,18287799,18275964,18243217,18239576,18221399,18193043,18187430,18178167,18164013,18064308,18063597,18036514,18034366,18033754,17991755,17991668,17970962,17949364,17931083,17855807,17852818,17848121,15228446,15138631,15102891,15099350,15098490,15085362,15076187,15053158,15039125,15036597,14998629,14967821,14732872,14687732,14679166,14669156,14660992,14583798,14563342,14559957,14531818,12966036,12951364,12919138,12907677,12871320,12840632,12820950,12818414,12818401,12798569,12791674,12773093,15992403,15979432,15955471,15952120,15939053,15896905,15888337,15882786,15864114,15859394,15856070,15840744,15811250,15766738,15696473,15655129,15608561,15589073,15585206,15489334,15450208,15382463,15377415,15339254,15256516,17785925,17767699,17709636,17700364,17666459,17658505,17615573,17588582,17587768,17587762,17568951,17568242,17555738,17531380,17522050,17519358,17512363,17512305,17503098,17495597,17440012,17335774,17318300,17311515,17310124,17293475,17287950,17275808,17272756,17237796,17196207,17190939,17160943,17157861,17097007,17055779,17053273,16986521,16946130,16890925,16855190,16837242,16829344,16822236,16797310,16770077,16763159,16684835,16674961,16623947,16563399,16553359,16544732,16542392,16522905,16430904,16426594,16420563,16384616,16343038,16335952,16332659,16306375,16306202,16248996,16205020,16189514,16159884,16141008,16123327,16098387,16096813,16086925,16049032,16039291,16038892,16030523,16005462,16002074,15996208,12771549,12771320,12730302,12700892,12669678,12663600,12639975,12601526,12588754,12579494,12544508,12519369,12519368,12518020,12514935,12499392,12482565,12477932,12446192,12409629,12401886,12174215,12164095,12117730,12116231,12104085,12091484,12082592,12070157,12055319,12048136,12037734,12033532,12019635,11996962,11956670,11952809,11915346,11903340,11888533,11888509,11887180,11882335,11872695,11810297,11804197,11730826,11714857,11689220,11575217,11533368,11454014,11398140,11369008,11359462,11341749,11322655,11284423,11096142,11056092,10391209,9712344,9374130,9332354,9305883,8943225,8494888,8408659,7989465,3818596,3446583,2390095,2334701,2215607,1999438 1580358,1580359,1600654 1071 NM_000078,AC012181,AC023825,AF027656,AY008270,AY172980,AY422211,CH471092,M32998,U71187,AA999853,AK291586,BC025739,BT020064,CR599646,CR622658,M30185,M83573 NP_000069,AAB86604,AAG21822,AAO12735,AAR03500,EAW82896,EAW82897,AAA51978,AAD14876,BAF84275,AAH25739,AAV38867,AAA51977,AAB59388,P11597,Q53YZ1,Q5TZS4,Q8IWL9,Q9H4L8,ABW03330 Hs.89538 GDB:119773 HDLCQ10 protein-coding 1350557 CFB complement factor B This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. 1580863 3052276,11367526,162484,8225386,279011,15199963,18325906,18039777,17921140,17916747,17767156,17576744,17395591,17359931,17310251,16518403,16335952,16301317,16061287,15648851,15489334,14656967,14574404,12477932,11803045,11367533,11341920,10861231,10637221,10610782,10072631,10072540,9373149,8648130,8247029,8181962,8125298,6957884,6546754,6342610,6323161,6308626,6149579,3643061,3315100,3140783,2249879,2006911,1545147,1445220,889587,16189514 629 BI258352,CD689714,CR590153,CR590439,J00126,J00185,J00186,K01566,L15702,S67310,X00284,X72875,AF551848,AL645922,AL662849,AL844853,BX005143,CH471081,CR388219,CR759782,M15082,AF349679,AK130533,AK223400,AL701961,BC004143,BC007464,BC007990,NM_001710,NG_000013,NG_004658,NG_005163,AF019413 Q5JP68,ABM83239,ABM86442,AAH07990,AAA36226,AAA36219,AAA36220,AAA36225,AAA16820,AAD13989,CAA25077,CAA51389,P00751,Q53F89,Q5JP67,AAB67977,AAN71991,CAQ09274,CAI17456,CAI41860,CAM25864,EAX03550,CAQ07483,CAQ07113,AAA59625,AAK30167,BAD97120,AAH04143,NP_001701 Hs.69771 GDB:119726 BF|BFD|CFAB|FB|GBG|H2-Bf|PBF2 b-factor, properdin protein-coding 1353993 CFC1 cripto, FRL-1, cryptic family 1 This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family. EGF-CFC family member proteins share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. These proteins play key roles in intercellular signaling pathways during vertebrate embryogenesis. Mutations in this gene can cause autosomal visceral heterotaxy. This protein is involved in left-right asymmetric morphogenesis during organ development. 1580863 11062482,18162845,17445335,17072672,15815621,15489334,15252450,12477932,11799476,10858660 55997 NM_032545,AC140481,AF312925,AF312769,AK290094,BC069508,BC074825,BC074826,BC110080,BG654700,BM509218,DQ786275 NP_115934,AAG42475,AAG30294,BAF82783,AAH69508,AAH74825,AAH74826,AAI10081,Q9GZR3 Hs.567542,Hs.595719 CRYPTIC|FLJ77897|HTX2|MGC133213 protein-coding 2289769 CFC1B cripto, FRL-1, cryptic family 1B 8889548 653275 NM_001079530,AC013269,AX277836,BM716751,BQ777283,BU784123 NP_001072998,AAY14955,CAD10661 Hs.503733 protein-coding 736531 CFD complement factor D (adipsin) The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. 1624328,1624324,1624327,1624344,1580863 1374388,162484,6459901,12477932,12080056,10971122,9145127,8289289,7592653,6987665,6821372,6776531,6383466,6363133,824769 1624328,1624324,1624327,1624344 1675 NM_001928,NG_007274,AC112706,CH471139,AJ313463,BC034529,BC040146,BC051001,BC057807,BG573629,BI763909,CR536575,DQ884409,M84526 NP_001919,EAW69588,CAC48304,AAH34529,AAH40146,AAH51001,AAH57807,CAG38812,ABI63376,AAA35527,P00746,Q6FHW3 Hs.155597 GDB:132645 ADIPSIN|ADN|DF|PFD protein-coding 1346060 CFDP1 craniofacial development protein 1 1580863 16189514,15489334,15231748,12477932,11992732,11831036,10415329,10350657,9602175,9373149,9006920,8125298 10428 NM_006324,AB004907,AB009269,AB009270,AC009054,AC009163,CH471114,AB009285,AK226031,AW160432,BC000991,BT009819,CR542111,CR623318,CR626586,D85939,D86549,CR622718 NP_006315,BAA31860,BAA31864,BAA31865,EAW95647,EAW95648,EAW95649,BAA31867,AAH00991,AAP88821,CAG46908,BAA20069,BAA20070,Q9UEE9,ABM81924,ABW03375 Hs.461361 GDB:9956979 BCNT|BUCENTAUR|CP27|SWC5|Yeti|p97 protein-coding 1353869 CFH complement factor H This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short concensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1599886,1599888,1580863 16785547,16774956,16754848,16751403,16730735,16723442,16710702,16710414,16642439,16630992,16621965,16541016,16533809,16528247,16519819,16470555,16431947,16386793,16379025,16341674,16335952,16310045,16300415,16299065,16267773,16263173,16229850,16192651,16174643,15895326,15870199,15784724,15761122,15761121,15761120,15754282,15749837,15634279,15557185,15489334,15342556,15331938,15163532,14974950,16816528,16787919,14760718,14702039,14638802,14583443,12960213,12630812,12477932,12471127,12424708,12391176,12020532,11921353,11851332,11825898,11644971,11367533,18162041,18161619,18093091,18067970,18054635,18050121,18039838,18006700,18005991,17999207,17995985,17973958,17962488,17915330,17877809,17869048,17846371,17846368,17767156,17724217,17699195,17697822,17679948,17631852,17599974,17591866,17591627,17591618,17580967,17562771,17558024,17483111,9312129,18461138,18452766,18436811,18433936,18423869,18422436,18421087,18378209,18362109,18340363,18325906,18316707,18292785,18292760,18248681,18235085,18235016,18223247,18211923,18203751,18183578,18164066,18163432,17472578,17464302,17456821,17442969,17438673,17438519,17426452,17399790,17398321,17396242,17362990,17360715,17352366,17339482,17314151,17306880,17293598,17285240,17266113,17241667,17229916,17210858,17210852,17210851,17208302,17198853,17167412,17157600,17151483,17137217,17132743,17079491,17076561,17056561,17022693,17003406,17000705,16954704,16936733,16936732,16936129,16936080,16909242,16905558,16889549,16885922,16877387,16865697,16849663,16828512,11170896,10380701,10377245,9988761,9558116,9551389,9373149,9291131,8663389,8331663,8125298,6215918,3782802,2977721,2968949,2968404,2963625,2952588,2946589,2937845,2889480,2529127,2527799,2445583,1829116,1828229,1826708,1826264,1533152,1401896,7535292,7893437,7590866,7492444,7576914,17959597,16189514,11170895,11158219,11116141,10803850,10762557,10577907,10490997 1599886,1599888 3075 BC142699,BM842566,BP324193,CR598844,CR601432,CR616715,M12383,M17517,M65294,X04697,X07523,Y00716,BC110643,NM_000186,NM_001014975,NG_007259,AL049744,CH471067,DQ233256,U56979,Z29665,AI568119,AK124051,AK225649,AK226113,AK291395,BC012610,BC037285,BC073982 AAI10644,AAI42700,AAA52013,AAA52016,AAA35948,CAB41739,CAA30403,CAA68704,P08603,Q14006,Q2TAZ5,Q5TFM2,NP_000177,NP_001014975,CAI19672,CAI19673,EAW91260,EAW91261,ABB02180,AAB01987,CAA82763,BAF84084,AAH37285 Hs.363396 ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS|MGC88246 protein-coding 1344198 CFHL1P complement factor H-related 1 pseudogene 1711047 3079 X56210 1346225 CFHR1 complement factor H-related 1 1580863 1711047,18084039,18039838,18006700,17538892,17438673,17367211,16998489,16710414,16335952,16239506,15557185,15489334,12477932,10781834,10408366,10380701,8663389,8172644,1826708,1825108,16189514 3078 NM_002113,NG_005811,AL049741,AI075816,AK290830,BC016755,BC107771,BG568702,M65292,M65293,X56209,X56210 NP_002104,CAB53063,CAI19622,BAF83519,AAH16755,AAI07772,AAA35946,AAA35947,CAA39666,CAA39667,Q03591,Q5TFM5,Q5TFM6,Q6LBM9,ABM83688,ABM86991 Hs.575869 CFHL|CFHL1|CFHL1P|CFHR1P|FHR1|H36-1|H36-2|HFL1|HFL2|MGC104329 protein-coding 1606035 CFHR2 complement factor H-related 2 17438673,16710414,15489334,12477932,10380701,8172644,7672821,1711047,1533657 3080 X86565,X86566,X86567,BC022283,BG566607,X64877,NM_005666,AL139418,CH471067,X86564 AAH22283,CAA46096,P36980,ABM82331,ABM85508,NP_005657,CAI21979,EAW91267,CAA60375 Hs.632450 CFHL2|FHR2|HFL3 protein-coding 1342616 CFHR3 complement factor H-related 3 1580863 8428964,18084039,18006700,17438673,17367211,16998489,16710414,15489334,12477932,10781834,10622723,10380701,8172644 10878 NG_005811,NM_021023,AL049741,CH471067,BC020687,BC058009,BC070259,BG618529,X68679 NP_066303,CAB53064,EAW91262,EAW91263,EAW91264,AAH20687,AAH58009,AAH70259,CAA48639,Q02985,Q5TFM7,Q6NSD3,Q8WW96 Hs.575869,Hs.709217 CFHL3|DOWN16|FHR-3|FHR3|HLF4 protein-coding 1351940 CFHR4 complement factor H-related 4 1580863 9038172,17438673,15562282,15489334,12477932,10622723,10380701,9476126 10877 NM_006684,NG_005811,AF190816,AL049741,AL139418,BX248415,CH471067,AJ640130,AK292752,BC074957,X98337 NP_006675,AAF05951,EAW91265,EAW91266,CAG26679,BAF85441,AAH74957,CAA66980,Q5DVJ7,Q5TZE6,Q5TZE7,Q92496 Hs.710100 CFHL4|FHR-4|FHR4|RP4-608O15.2 protein-coding 1349013 CFHR5 complement factor H-related 5 1580863 11058592,17438673,17000000,16344560,16299065,15879123,15489334,12477932,12041828,11774097,11414752 81494 NM_030787,AL139418,AL353809,CH471067,AF295327,BC026282,BC111773,BG568555,DA638244 NP_110414,CAH72548,EAW91268,AAK15619,AAH26282,AAI11774,Q05CF5,Q5VYL6,Q9BXR6 Hs.282594 CFHL5|FHR-5|FHR5|FLJ10549|MGC133240 protein-coding 736809 CFI complement factor I This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. 1580863 8604219,17599974,17597211,17548110,17482181,17320177,17106690,17067565,17055788,17018561,16920989,16621965,16386793,16335952,15835912,15342556,15210795,15173250,14967308,14761935,14760718,14702039,12477932,9605165,9479036,9291131,8613545,7672128,2956252,2954545,2563353,1401896 3426 NM_000204,NG_007569,AC126283,AF005095,CH471057,AK122686,AK290625,BC005275,BC020718,BM955734,BP235907,CR618232,DC392360,J02770,N63668,Y00318 NP_000195,AAC08733,EAX06250,EAX06251,EAX06252,BAF83314,AAH20718,AAA52455,CAA68416,CAA68417,CAA68418,P05156,Q6LAM0,Q6LAM1,Q8WW88 Hs.312485 GDB:120077 C3B-INA|FI|IF|KAF protein-coding 732970 CFL1 cofilin 1 (non-muscle) Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM] 1580863 12361576,16713569,17353931,10436159,16130169,18096821,17583572,17352815,17196218,17088134,17081983,16964243,16916647,16456544,16396496,16301112,16189514,16061204,15952740,15816841,15719172,15671020,15660133,15647284,15598710,15592455,15489334,15485906,15213453,15159416,14733918,14718574,14702039,14634665,14627701,12904289,12837278,12791392,12684437,12665801,12477932,12359716,12323073,12207032,12049672,11950878,11925442,11832213,11812157,11747431,11707283,11418599,11340065,11294912,11139403,11090694,10613909,10366597,9655398,8892894,8889548,8824278,8806458,8800436,8482351,8195165,8037689,7552146,2263493,16526095,14607843,12963706 1072 NM_005507,AP001266,CH471076,AK097690,BC011005,BC012265,BC012318,BC018256,BC024975,BT006846,CB850882,CR598078,CR598143,CR601037,CR604205,CR604338,CR607341,CR614698,CR615502,CR617396,CR620775,CR620871,CR621841,CR622534,CR622701,CR622749,CR623837,CR624160,CR625024,CR625803,D00682,U21909,X95404 NP_005498,EAW74448,EAW74449,EAW74450,EAW74451,EAW74452,AAH11005,AAH12265,AAH12318,AAH18256,AAP35492,BAA00589,AAA64501,CAA64685,P23528,ABM82695,ABW03425 Hs.170622 GDB:126798 CFL cofilin 1 protein-coding 1315906 CFL2 cofilin 2 (muscle) Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. (Gillett et al., 1996 [PubMed 8800436]). Cofilin-2 is a member of the AC group of proteins that also includes cofilin-1 (CFL1) and destrin (DSTN; MIM 609114), all of which regulate actin-filament dynamics (Bamburg et al., 1999 [PubMed 10461190]; Maciver and Hussey, 2002). The CFL2 gene encodes a skeletal muscle-specific isoform (Vartiainen et al., 2002 [PubMed 11809832]) localized to the thin filaments, where it exerts its effect on actin, in part through interactions with tropomyosins (Ono and Ono, 2002 [PubMed 11901171]).[supplied by OMIM] 1580863 16189514,17160903,17081983,16530787,15951569,15489334,12684437,12477932,12049672,11901171,11827452,11809832,11422377,10461190,9655398,8889549,8824278,8800436,16526095 1073 NM_138638,NM_021914,AF242299,AF283513,AL355885,CH471078,AF087867,AF134802,AF134803,AI754134,AL117457,BC011444,BC022364,BC022876,BC025683,CR600914,CR605888,CR620328 NP_619579,NP_068733,AAF64498,AAF97934,EAW65908,EAW65909,EAW65910,EAW65911,EAW65912,AAM10495,AAD31280,AAD31281,AAH11444,AAH22364,AAH22876,Q549N0,Q9Y281 Hs.180141 GDB:595527 NEM7 protein-coding 1347509 CFLAR CASP8 and FADD-like apoptosis regulator 1580863 16211288,16077198,16052516,16052233,16014121,15956881,15917295,15899875,15886205,15864316,15843523,15832422,15815586,15761846,15760909,15731171,15722350,15701651,15701649,15686714,15653751,15644494,15557152,15540114,15489334,15485835,15459191,15354734,15334061,15304499,15297424,15273717,15258564,15183989,15096587,15078899,15024054,14759258,14662022,14637155,14578361,14562111,13679070,12820373,12746452,12716387,12592338,12574377,12556488,12552004,12496482,12496481,12496285,12477972,12477932,12432255,12407100,12393527,12215447,12115181,12097160,12060768,12031968,11965497,11940602,11877293,11830587,11193041,11161814,11002417,10837247,10227994,10200473,10069390,9990034,9880531,9575181,9380701,9326610,9325248,9289491,9228018,9219695,9211860,12887920,17353931,16189514,12220669,11741985,12761501,9217161,9208847,17988665,17982483,17932249,17912957,17762208,17726263,17697742,17659339,17646662,17638906,17581950,17573774,17559541,17513603,17450141,17440816,17376892,17272514,17106251,17070520,17056549,17003335,16901543,16740746,16720717,16611896,16472594,16441226,16436054,16403915,16304056,16298825,16247474 8837 BT006751,BX457155,CB148618,CR615942,CR619610,DC321068,U85059,U97074,U97075,Y14039,Y14040,NM_003879,NM_001127183,NM_001127184,AB038972,AC007283,CH471063,AB209600,AF005774,AF005775,AF009616,AF009617,AF009618,AF009619,AF010127,AF015450,AF015451,AF015452,AF041458,AF041459,AF041460,AF041461,AF041462,AK289913,BC001602 AAP35397,AAB82648,AAC51622,AAC51623,CAA74366,CAA74367,O15519,Q53TS6,Q54AF1,Q59F61,ABM92209,ABM84686,AAH01602,NP_003870,NP_001120655,NP_001120656,BAB32551,BAB32552,AAY24290,EAW70235,EAW70236,EAW70237,EAW70238,EAW70239,EAW70240,EAW70241,EAW70242,EAW70243,EAW70244,EAW70245,BAD92837,AAC15825,AAC15826,AAB70909,AAB70910,AAB70911,AAB70912,AAB64110,AAC16439,AAC16440,AAC16441,AAB99790,AAB99791,AAB99792,AAB99793,AAB99794,BAF82602 Hs.390736 GDB:9957359 CASH|CASP8AP1|CLARP|Casper|FLAME|FLAME-1|FLAME1|FLIP|I-FLICE|MRIT|USURPIN|c-FLIP|c-FLIPL|c-FLIPR|c-FLIPS protein-coding 1344248 CFLL1 cofilin-like 1 1074 GDB:127445 1349932 CFLL2 cofilin-like 2 1076 GDB:127446 1349136 CFLL3 cofilin-like 3 1077 GDB:127447 1351791 CFLL4 cofilin-like 4 1078 GDB:127448 1603578 CFLP1 cofilin pseudogene 1 12477932 142913 NG_004788,AC022016,BC031631 ABM82205,ABM85393 Hs.646123 MGC35136 pseudo 1344573 CFM1 cystic fibrosis modifier 1 8589719 10167 GDB:9955342 1353272 CFM2 cystic fibrosis modifier 2 23727 GDB:10794639 1348885 CFNS craniofrontonasal syndrome (craniofrontonasal dysplasia) 9302274 GDB:9579470 1351689 CFP complement factor properdin Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. The C3b,Bb convertase then rapidly cleaves more C3 to C3b, which acts either as an opsonin or to reinitiate the pathway in an amplification loop that proceeds on the bacterial cell, but not on the host cell (Janeway et al., 2001). In the alternative pathway, C3 is thus activated through factor B, factor D, and properdin P, under the control of factors I and H (Fearon and Austen, 1980 [PubMed 6900901]). Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).[supplied by OMIM] 1580863 162484,8530058,15199963,16337490,16335952,15772651,15489334,14702039,12493642,12477932,12096136,11513971,11090881,10909851,10878002,10861231,9710744,9127010,8871668,7151327,6900901,3421908,3140783,2570030,2009915,1783405,1431505,1417780,8630395,7911492,7893437,7590866,16189514 5199 AF005666,AF005668,AL009172,AY297813,CH471164,X70872,NM_002621,AK122955,BC015756,M83652,X57748,AF005664,AF005665 AAB63280,AAC51626,AAB62886,CAA15658,AAP43692,EAW59317,EAW59318,EAW59319,EAW59320,CAA50220,AAH15756,AAA36489,CAA40914,P27918,ABM84386,ABM87309,NP_002612,AAB63279 Hs.53155 GDB:120275 BFD|PFC|PFD|PROPERDIN protein-coding 619566 CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. 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 that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. 1599599,734772,1580863,1599596,1599598 2475911,10581360,11707463,15247260,9875854,18467194,18424453,18373402,18361452,18350634,18344710,18305154,18294702,18279436,18264947,18243066,18230779,18227622,18209474,18178635,18167357,18096515,18078202,18076731,18056267,18055505,18050608,18047834,18045644,18045536,17985657,17982258,17981921,17975025,17943404,17932045,17913891,17913705,17911111,17903301,17902144,17901983,17890437,17877132,17873061,17869070,17848139,17823699,17762174,17761461,17719933,17719926,17718859,17716958,17690208,17678620,17673436,17660831,17654517,17652219,17632788,17627383,17615287,17613530,17603939,17595519,17594397,17590432,17588945,17580535,17580311,17575549,17573513,17572159,17560176,17553491,17546509,17544945,17540036,17539902,17532368,17531547,17531517,17519339,17516627,17495464,17489851,17481968,17475917,17469153,17466952,17462998,17448246,17446304,17434346,17432547,17409124,17394391,17392477,17353351,17347778,17337503,17329263,17314234,17289674,17283574,17283089,17272866,17272822,17254580,17242497,17237149,17235394,17234733,17212919,17206681,17182731,17158866,17113596,17110338,17099022,17098864,17084917,17072959,17047984,17043152,17043148,17015704,17012229,17005267,17003641,17003560,17003555,16990428,16987954,16980811,16973827,16966475,16963320,16954950,16954204,16938751,16920886,16915933,16901789,16865856,16830219,16828872,16822950,16801189,16799633,16778595,16778407,16764792,16762324,16715841,16714368,16713399,16708396,16690975,16678503,16678395,16635477,16621797,16617247,16596947,16581722,16574992,16572913,17331079,16541275,16531569,16527813,16499810,16493442,16485779,16481891,15775704,15772171,15752682,15749233,15746174,15741992,15738290,15729345,15716351,15705621,15699697,15698946,15698945,15684701,15684079,15681482,15677769,15672947,15665983,15645646,15644056,15640323,15638824,15637983,15634668,15633186,15623556,15619636,15619635,15611333,15596536,15591474,15563584,15546864,15537723,15533383,15533353,15528182,15505732,15486385,15480987,15479737,16469739,16466905,16463140,16443646,16436643,16436375,16435054,16427927,16413502,16412743,16399952,16379540,16361259,16354855,16341382,16311240,16311077,16281647,16275171,16272798,16266832,16258369,16246032,16246030,16245306,16243854,16239222,16238926,16236828,16226002,16212675,16210354,16207846,16203733,16202788,16202781,16193325,16189704,16187186,16182665,16177360,16170155,16166089,16163053,16162662,16143588,16137181,16132229,16128988,16127463,16126774,16114821,16078047,16075239,16051530,16020494,16014420,16001079,15997883,15994263,15987793,15964894,15958523,15948196,15944206,15937068,15936019,15923638,15905293,15880249,15870673,15858154,15832355,15784035,15781764,15776432,16470247,15477385,15474513,15472711,15471937,15463907,15463906,15463893,15463854,15463840,15379964,15371909,15371908,15371907,15371903,15371258,15367919,15365999,15364959,15361357,15358638,15354332,15354331,15342786,15333598,15332739,15300780,15286085,15284228,15274098,15272010,15265695,15247233,15244104,15238770,15233679,15215316,15215312,15176679,15173476,15171831,15151509,15125256,15104594,15097853,15084988,15084222,15075371,15070876,15066992,15060073,15048129,15039462,15025720,15024729,15017334,15001557,14966131,14760158,14757935,14747162,14706455,14699484,14697202,14688470,14688350,14685937,14681029,14679190,14660592,14605249,14576497,14570915,14567462,14564043,14555664,14534336,10561583,10200050,10094564,10075921,9931011,9921909,9736778,9677412,9671706,9613608,9590693,9554753,9521595,9517543,9511929,9482579,9466991,9443874,9401006,9385646,9384384,9375855,9222768,9101301,9067761,8956039,8829633,8800923,8764323,8744024,8723695,8723693,8522333,8081395,8072542,7693108,7689062,7683954,7683628,7680525,7678008,7581407,7581390,7553864,7544319,7543567,7541510,7541313,7541273,7539342,7537150,7529962,7525450,7524913,7524910,7524909,7522211,7520022,7518437,7517264,7513296,7505694,7504969,2772657,2236053,2218515,1719769,1710600,1710599,1710598,1709163,1695717,1378801,1377674,1284534,1284530,1284529,1284468,1284466,14604981,12621035,7513695,15105504,12933354,14526128,14500527,12969205,12955726,12952861,12943157,12939655,12938099,12919146,12913074,12885340,12881616,12881487,12881448,12865275,12839834,12833420,12833419,12833400,12825076,12820707,12820662,12815607,12802335,12794695,12792424,12783301,12782133,12779072,12772217,12768409,12767731,12759680,12745925,12732620,12723646,12721956,12690205,12689922,12679372,12679371,12661515,12660625,12651871,12630958,12624947,12615054,12563062,12548396,12529365,12523935,12519745,12509457,12503104,12485421,12483292,12471024,12457238,12454843,12452372,12447862,12446681,12439892,12437773,12427743,12414835,12409506,12409301,12403779,12397014,12394343,12357328,12355171,12297838,12227654,12226741,12220181,12218938,12209004,12181169,12172395,12167682,12151438,12149408,12143267,12139895,12133923,12127423,12120234,12120233,12120220,12110684,12095312,12084728,12084577,12080183,12073281,12070134,12069690,12068629,12059073,12054472,12039948,12023951,12014388,12009340,11984593,11956211,11950844,11940532,11936773,11933191,11908853,11897641,11897640,11883825,11882786,11872746,11867445,11856314,11845316,11845311,11845310,11845308,11845302,11845300,11845294,11813900,11802245,11799116,11796434,11788091,11788090,11788089,11773581,11756355,11748227,11715005,11713719,11713441,11688981,11686989,11683083,11680956,11667976,11597137,11574497,11569691,11536079,11529289,11462248,11462247,11400707,11397675,11379874,11356077,11354633,11333866,11304524,11243954,11186891,11175304,11168024,11134427,11117575,11115825,11109941,11104661,11095651,11051556,11025834,10893422,10862786,10852925,10799517,10766763,10651488 1599599,734772,1599596,1599598 1080 AJ575033,AJ575034,AJ575035,AJ575036,AJ575037,AJ575038,AJ575039,AJ575040,AJ575041,AJ575042,AJ575043,AJ575044,AJ575045,AJ575046,AJ575047,AJ575048,AJ575049,AJ575050,AJ575051,AJ575052,AJ575032,AJ574979,AJ574980,AJ574981,AJ574982,AJ574983,AJ574984,AJ574985,AJ574986,AJ574987,AJ574988,AJ574989,AJ574990,AJ574991,AJ574992,AJ574993,AJ574994,AJ574995,AJ574996,AJ574997,AJ574998,AJ574999,AJ575000,AJ575001,AJ575002,AJ575003,AJ575004,AJ575005,AJ575006,AJ575007,AJ575008,AJ575009,AJ575010,AJ575011,AJ575012,AJ575013,AJ575014,AJ575015,AJ575016,AJ575017,AJ575018,AJ575019,AJ575020,AJ575021,AJ575022,AJ575023,AJ575024,AJ575025,AJ575026,AJ575027,AJ575028,AJ575029,AJ575030,AJ575031,AJ575054,AJ575055,AY848828,AY848829,AY848830,AY848831,AY848832,AY849794,CH236947,CH471070,DQ354388,DQ354389,DQ354390,DQ354391,DQ356257,DQ356258,DQ356259,DQ356260,DQ356261,DQ356262,DQ356263,DQ356264,DQ388128,DQ388129,DQ388130,AJ575053,AC000061,AC000111,AJ574939,AJ574940,AJ574941,AJ574942,AJ574943,AJ574944,AJ574945,AJ574946,AJ574947,AJ574948,AJ574949,NM_000492,AJ574950,AJ574951,AJ574952,AJ574953,AJ574954,AJ574955,AJ574956,AJ574957,AJ574958,AJ574959,AJ574960,AJ574961,AJ574962,AJ574963,AJ574964,AJ574965,AJ574966,AJ574967,AJ574968,AJ574969,AJ574970,AJ574971,AJ574972,AJ574973,AJ574974,AJ574975,AJ574976,AJ574977,AJ574978,DQ388132,DQ388133,DQ388134,DQ388135,DQ388136,DQ388137,DQ388138,DQ388139,DQ388140,DQ388141,DQ388142,DQ388143,DQ388144,DQ388145,L49339,M55106,M55131,M58478,DQ388131,M65196,M65197,M96936,S64594,M28668,S64699,S82430 CAE00746,CAE00747,CAE00748,CAE00749,CAE00750,CAE00751,CAE00752,CAE00753,CAE00754,CAE00755,CAE00756,CAE00757,CAE00758,CAE00759,CAE00760,CAE00761,CAE00762,CAE00763,CAE00764,CAE00765,CAE00766,CAE00693,CAE00694,CAE00695,CAE00696,CAE00697,CAE00698,CAE00699,CAE00700,CAE00701,CAE00702,CAE00703,CAE00704,CAE00705,CAE00706,CAE00707,CAE00708,CAE00709,CAE00710,CAE00711,CAE00712,CAE00713,CAE00714,CAE00715,CAE00692,CAE00717,CAE00718,CAE00719,CAE00720,CAE00721,CAE00722,CAE00723,CAE00724,CAE00725,CAE00726,CAE00727,CAE00728,CAE00729,CAE00730,CAE00731,CAE00732,CAE00733,CAE00734,CAE00735,CAE00736,CAE00737,CAE00738,CAE00739,CAE00740,CAE00741,CAE00742,CAE00743,CAE00744,CAE00745,CAE00716,CAE00767,CAE00768,CAE00769,AAW33655,AAW33656,AAW33657,AAW33658,AAW33659,AAW33782,EAL24353,EAW83529,EAW83530,EAW83531,ABC79050,ABC79052,ABC79054,ABC79056,ABC87053,ABC87055,ABC87057,ABC87059,ABC87061,ABC87063,ABC87065,ABC87067,ABD72183,ABD72185,ABD72187,NP_000483,AAB46340,AAB46352,CAE00653,CAE00654,CAE00655,CAE00656,CAE00657,CAE00658,CAE00659,CAE00660,CAE00661,CAE00662,CAE00663,CAE00664,CAE00665,CAE00666,CAE00667,CAE00668,CAE00669,CAE00670,CAE00671,CAE00672,CAE00673,CAE00674,CAE00675,CAE00676,CAE00677,CAE00678,CAE00679,CAE00680,CAE00681,CAE00682,CAE00683,CAE00684,CAE00685,CAE00686,CAE00687,CAE00688,CAE00689,CAE00690,CAE00691,ABD72189,ABD72191,ABD72193,ABD72195,ABD72197,ABD72199,ABD72201,ABD72203,ABD72205,ABD72207,ABD72209,ABD72211,ABD72213,ABD72215,ABD72217,AAC41928,AAC13657,Q9UMN4,AAI56255,AAA51982,AAA51979,AAA51980,AAB59382,AAB20218,AAA35680,AAB27879,AAD14390,P13569,Q16049,Q20BH0,Q20BI4,Q20BI6,Q20BJ8,Q2I0A3,Q2I0A9,Q5I6F9,Q5I6N4,Q5I6N5,Q5I6N6,Q5I6N7,Q6KAL5,Q6KE95,Q6KEA0,Q6KEA5,Q6KEB2,Q6KEB8,Q6KEC3,Q6KEC8,Q6KED3,Q6KED8,Q6KEE3,Q6KEE7,Q6KEF1,Q6KEF5,Q6KEF9,Q6KEG3,Q6KEG6,Q6KEG9,Q6KEH3,Q6KEH6,Q6KEH8,Q6KEH9,Q6KEI2,Q6KEI7,Q6KEI8,Q6KEJ1,Q6KEJ4,Q6KEJ7,Q99904,Q99989,Q9UJ19,Q9UML7,Q9UML8 Hs.489786,Hs.621460,Hs.661104 GDB:120584 ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7) protein-coding 1348590 CGA glycoprotein hormones, alpha polypeptide The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. 1580863 481597,18206295,18079192,18063683,17690166,17609437,17261286,17143726,17112680,17097221,17045735,16950818,16543672,16461985,16311298,16007123,15662415,15637148,15489334,15231748,15004409,14726442,14607569,14585810,12963710,12960071,12920232,12615827,12569177,12477932,12237895,12164786,11900895,11893904,11775891,11266609,11261589,11222739,10821673,10563789,10373373,10342833,9578495,8898911,8202136,8196184,7922031,7679977,7544284,7462224,7410374,6774759,6581542,6207569,6189397,5065401,5002675,4835135,4745444,3839756,2708337,2611225,2536708,2481154,2449427,1991473,1158880,1150658,890569,172504,16189514,15304512,6286817 1081 CR611195,CR611908,CR615870,CR616045,CR622170,CR626155,V00518,NM_000735,AL138827,CH471051,CQ873162,CS120867,EU081886,J00152,S70585,AB019569,BC010957,BC020782,BC055080,CR457427,CR591068,CR591147,CR595519,CR596397,CR598298,CR599056,CR602651,CR607107,CR610488 CAA23777,P01215,Q6I9S8,Q96QJ4,NP_000726,CAH70647,EAW48612,EAW48613,EAW48614,EAW48615,CAH56879,CAJ15133,ABU96751,AAD13690,AAB30827,AAH10957,AAH20782,AAH55080,CAG33708 Hs.119689 GDB:119774 CG-ALPHA|FSHA|GPHA1|GPHa|HCG|LHA|TSHA protein-coding 1351942 CGB chorionic gonadotropin, beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. 1580863 6690982,7723844,6194155,10468638,17437322,17143726,17141398,17139196,17097221,17059865,17045394,16924466,16651852,16632463,16543672,16323172,16007123,15718290,15048184,15004409,12594819,12569177,12477932,12419040,12242028,12175153,11861891,11266609,10715549,10563789,9578495,9542977,8202136,7922031,7513655,6319099,6204923,6196363,6160572,3098775,2536708,2468994,2452822,2447154,2424697,2422163,2254302,1820200,1510839,1442929,1371113,7251865,6774259 1082 NM_000737,NG_000019,AC008687,AF397581,CH471177,K03189,M13504,AK291552,BC022796,BC041054,BC069526,BC106059,CR593396,CR613376,J00117 NP_000728,AAL69709,EAW52434,AAA53288,AAA52005,BAF84241,AAH22796,AAH41054,AAH69526,AAI06060,AAA96690,P01233,Q3KPI3,Q9UCG9,ABM83058,ABM86252 Hs.172944,Hs.446683,Hs.681647 GDB:119055 CGB3|hCGB protein-coding 1349143 CGB1 chorionic gonadotropin, beta polypeptide 1 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. 17055150,12477932,11368883,11181995,8954017,6690982,6319099,6209613,6204923,6194155,2468994,2422163,1371113 114335 NM_033377,NG_000019,AC008687,CH471177,S80935,BC107144,BC126460 NP_203695,EAW52436,AAI26461 Hs.659014 GDB:11505774 protein-coding 1352505 CGB2 chorionic gonadotropin, beta polypeptide 2 The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB2 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 163 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. 17055150,12477932,11181995,8954017,6690982,6319099,6204923,6194155,2422163,1371113 114336 NM_033378,NG_000019,AC008687,CH471177,K03185,BC069367,BC107143 NP_203696,EAW52435,AAH69367,Q6NT52 Hs.567650 GDB:11505776 protein-coding 1347768 CGB5 chorionic gonadotropin, beta polypeptide 5 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. 1580863 14715707,17510243,15309632,15299093,15285305,15253136,15217983,12914533,12511603,12477932,11893904,10373373,9578495,9012484,8202136,7922031,6690982,6319099,6209613,6204923,6194155,2708337,2611225,2536708,2468994,2452822,2424697,2422163,1371113,172504,16189514 93659 NM_033043,NG_000019,AC008687,CH471177,X00265,BC006290,BC051378,BC103970,BC103971,BC106723,BC106724,BT006890 EAW52437,NP_149032,CAA25068,AAH06290,AAH51378,AAI03971,AAI03972,AAI06724,AAI06725,AAP35536 Hs.590955 GDB:11505778 HCG|MGC119822 protein-coding 1351098 CGB7 chorionic gonadotropin, beta polypeptide 7 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. 1580863 2422163,1820200,1688430,1371113,1150658,15489334,14702039,11861891,10468638,9012484,8202136,7723844,7462224,7240231,6774259,6690982,6319099,6209613,6204923,6194155,4795659,2468994,2452822,2424697 94027 NM_033142,NG_000019,AC008687,AF397576,AF397577,AF397578,AF397579,AF397580,CH471177,K00092,K03182,K03183,M13503,M13505,X00266,AK092722,AK125108 NP_149133,AAL69704,AAL69705,AAL69706,AAL69707,AAL69708,EAW52439,AAA53287,AAA52009,AAA52008,CAA25069 Hs.681647,Hs.708602 GDB:11505780 CG-beta-a|FLJ35403|FLJ43118 protein-coding 1343156 CGB8 chorionic gonadotropin, beta polypeptide 8 This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. 1371113,12477932,9012484,6690982,6319099,6209613,6204923,6194155,2468994,2452822,2424697,2422163 94115 NM_033183,NG_000019,AC008687,CH471177,BC030994,BC103969,BC128603,BQ011275,BX118262,BX380841,CR590789,CR593360,CR597606,CR616977 NP_149439,EAW52438,AAH30994,AAI03970,AAI28604 Hs.172944,Hs.659014 GDB:11505782 protein-coding 1344268 CGF1 cognitive function 1, social 9192895 1083 GDB:6275867 1317722 CGGBP1 CGG triplet repeat binding protein 1 CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM] 8626781,16381901,15489336,15489334,14667814,14519687,12477932,11256614,11230166,11076863,10692448,9201980,8268919,8069307 8545 NM_003663,NM_001008390,AC119733,AF094481,CH471110,AJ000258,AL117392,BC005222,BC042194,BC052980,BE501563,BU537042,CR456854 NP_003654,NP_001008391,AAD04161,EAW68863,EAW68864,CAA03974,CAB55894,AAH52980,CAG33135,Q9UFW8,CAL38583 Hs.444818 GDB:9955584 CGGBP|p20-CGGBP protein-coding 1607047 CGI-96 CGI-96 protein 16565220,15489334,14702039,12477932,12087473,11790298,10810093,10591208 27341 NM_015703,AL022316,CH471138,AK092492,AY039240,BC031838,BC035992,BC041639,BC042335,BC063537,BC064560,BC073834,BC121118,BC121119,CR591597,CR598821,CR622688 NP_056518,EAW73254,AAK68659,AAH31838,AAH41639,AAH42335,AAH63537,AAH73834,AAI21119,AAI21120,Q6P4B5,Q9Y3A4 Hs.534041 BK126B4.3|MGC150422|MGC150423 protein-coding 1323740 CGN cingulin 1580863 15342556,15324660,15146197,14702039,12665801,11042084,12529927,16710414,16083285,15866167,12477932,12023291,10877843,10718198,10613913,17353931,15778465 57530 NM_020770,AL365436,CH471121,AB037740,AF263462,AK290007,BC146657,BC152445,BP331021,BX647343,CN359389 NP_065821,CAI16590,EAW53434,EAW53435,BAA92557,AAF74498,BAF82696,AAI46658,AAI52446,Q9P2M7 Hs.591464 DKFZp779N1112|FLJ39281|KIAA1319 protein-coding 1348912 CGN1 conglutinin 1 1099 GDB:137088 1353387 CGNL1 cingulin-like 1 15292197,14702039,12736278,12477932,11214970 84952 NM_032866,AC016525,AC025271,CH471082,AB051536,AK027025,AK027863,AK056673,AL110171,AY274808,AY610514,BC021799,BC030995,BC062770,BC093827,BC112049,BC118918,BC118919,BQ023767 NP_116255,EAW77521,BAB21840,BAB55415,BAB71249,AAP42073,AAT37906,AAH30995,AAH62770,AAH93827,AAI12050,AAI18919,Q0VF95,Q0VF96,Q6P5Q2 Hs.148989 FLJ14957|JACOP|KIAA1749|MGC138254 protein-coding 1353373 CGREF1 cell growth regulator with EF-hand domain 1 632480,1580863 8968090,12477932 632480 10669 AC013403,CH471053,AK290128,BC034764,CR593274,CR619230,CR623121,NM_006569,U66468 NP_006560,AAX93168,EAX00635,EAX00636,EAX00637,EAX00638,EAX00639,BAF82817,AAH34764,AAC50896,Q8N4B7,Q99674,ABM81751,ABM84905 Hs.159525 CGR11 cell growth regulator with ef hand domain 1 protein-coding 733810 CGRRF1 cell growth regulator with ring finger domain 1 632480 8968090,15489334,12477932,12070015 632480 10668 NM_006568,AL359792,CH471061,AK289478,AW664053,BC015063,BG701924,CR601996,U66469 NP_006559,EAW80640,EAW80641,EAW80642,BAF82167,AAH15063,AAC50897,Q99675 Hs.59106 CGR19|RNF197 protein-coding 1321560 CH25H cholesterol 25-hydroxylase This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. 1580863 9852097,17373700,16909003,16157450,15489334,15465627,15164054,12477932 9023 NM_003956,AF059212,AL513533,CH471066,AF059214,BC017843,BC072430 NP_003947,AAC97481,CAI13519,EAW50146,AAC97483,AAH17843,AAH72430,O95992,ABM82952,ABM86144 Hs.47357 GDB:9954776 C25H protein-coding 1604291 CHAC1 ChaC, cation transport regulator homolog 1 (E. coli) 16189514,15489334,12477932 79094 NM_024111,AC020661,CH471125,AY702027,BC001683,BC001847,BC019625,CR591065,CR592413,CR597001,CR598230,CR598799,CR601069,CR604510,CR608003,CR617904,CR620504,CR624884 NP_077016,EAW92467,AAW23972,AAH01683,AAH01847,AAH19625,Q0VIA0,Q9BUX1 Hs.155569 MGC4504 protein-coding 1606619 CHAC2 ChaC, cation transport regulator homolog 2 (E. coli) 12477932 494143 AC007883,CH471053,BC017941,BC019239,BC025376,BC053896,NM_001008708 NP_001008708,AAY24351,EAX00172,EAX00173,AAH17941,AAH19239,AAH25376,AAH53896,Q8WUX2 Hs.585944 protein-coding 734435 CHAD chondroadherin Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes. The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. 1580863 15489334,12477932,11445564,9344663,9281592,1939097,16189514 1101 NM_001267,AC021491,CH471109,U96767,U96768,U96769,AF371328,AK292177,BC036360,BC073974,BQ181527 NP_001258,EAW94613,EAW94614,AAC13410,AAK51556,BAF84866,AAH36360,AAH73974,O15335 Hs.97220 GDB:6297421 SLRR4A protein-coding 2292054 CHADL chondroadherin-like 12477932 150356 XM_377720,XM_940422,AL035681,CH471095,BC012882,BC019839,BC040188,BC048421,BC068590 XP_377720,XP_945515,CAI22653,EAW60419,AAH12882,AAH19839,AAH40188,AAH48421,AAH68590,Q6NUI6 Hs.344488,Hs.652544 SLRR4B protein-coding 1353205 CHAF1A chromatin assembly factor 1, subunit A (p150) Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM] 1580863 7600578,18270339,17099699,17081983,16964243,16826239,15882967,15664198,15489334,15456888,15327775,15302935,15231747,15067324,12837248,12771185,12697822,12477932,11897662,11250073,10938122,10893180,10648606,10549285,10052459,9614144,8858152,17353931,15143166 10036 NM_005483,AC011498,AF190465,CH471139,AA576757,BC005813,BC011560,BC041606,BC052620,BC067093,BE796132,BG775588,BM826511,BQ889365,H98924,U20979 NP_005474,AAF04291,EAW69224,EAW69225,EAW69226,AAH52620,AAH67093,AAA76736,Q13111,Q6NXG5 Hs.79018 GDB:9954912 CAF-1|CAF1|CAF1B|CAF1P150|MGC71229|P150 protein-coding 1316940 CHAF1B chromatin assembly factor 1, subunit B (p60) Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. 1580863 15456888,16189514,17353931,7600578,16780588,9614144,17081983,16980972,15664198,15489334,15302935,15068244,15024074,12771185,12477932,11897662,10938080,10893180,10830953,9813080,8885239,8858152,8792829,8660983,12697822,12837248 8208 NM_005441,AP000694,AP001725,CH471079,AL711314,BC001143,BC021218,CR597529,U20980,X98262 NP_005432,BAA89426,BAA95549,EAX09741,AAH21218,AAA76737,CAA66915,Q13112 Hs.75238 GDB:728461 CAF-1|CAF-IP60|CAF1|CAF1A|CAF1P60|MPHOSPH7|MPP7 protein-coding 1312173 CHAT choline acetyltransferase Cholinergic systems are implicated in numerous neurologic functions. Alteration in some cholinergic neurons may account for the disturbances of Alzheimer disease. The protein encoded by this gene synthesizes the neurotransmitter acetylcholine. Alternative splice variants have been found that contain alternative 5' untranslated exons. Three of the four described splice variants encode identical 69 kDa proteins while one variant encodes both the 69 kDa and a larger 82 kDa protein. 1600851,1600834,1600831 10861222,18322398,18165968,17503482,17503475,17378730,17373692,17144655,16480703,16468020,16223550,15913843,15690550,15381704,15276243,14514417,12770689,12759818,12637523,12628465,12609506,12486117,12477932,12401548,12393272,11595752,11172068,10692442,10594838,10369388,9073174,8479291,8071310,8057782,7682855,7616604,3480542,3183663,3086876,2004764,1840566,1784419,1400357,16424819,1388731,1339386,1337937 1600851,1600834,1600831 1103 AF305907,AF305908,AF305909,AF450452,BC130615,BC130617,D82339,D82340,D82341,D82342,S45018,S56138,NM_020984,NM_020985,NM_020986,NM_020549,AC073366,AF305906,CH471187,M96015,X56585,X56879,X65023 CAA46157,AAK08953,AAK08954,AAK08955,AAL48258,AAI30616,AAI30618,BAA18943,BAA18944,BAA18945,BAA18946,AAB23557,AAA14245,P28329,Q6LBL1,Q6LDF3,Q6LEN5,Q6LEN6,Q8WXE3,NP_066264,NP_066265,NP_066266,NP_065574,AAK08950,AAK08951,AAK08952,EAW93086,EAW93087,EAW93088,EAW93089,EAW93090,EAW93091,EAW93092,AAC37590,CAA39923,CAA40201 Hs.302002 GDB:119775 CMS1A|CMS1A2 protein-coding 1316148 CHCHD1 coiled-coil-helix-coiled-coil-helix domain containing 1 16341674,15489334,15177562,12477932 118487 NM_203298,AC022400,CH471083,AK098720,BC015387,BC020852,BM787401,CR603253 NP_976043,EAW54520,AAH15387,AAH20852,Q96BP2 Hs.181174 C10orf34|C2360|FLJ25854 protein-coding 1320361 CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 15489334,12853948,12477932 51142 AY605046,AY633613,BC003079,BC015639,BC066331,BC071985,BC100275,BF347122,CR600933,CR603585,CR607489,CR608987,CR617975,NM_016139,AC006970,CH471140,AF078845 AAT35813,AAV33306,AAH03079,AAH15639,AAH66331,AAH71985,AAI00276,Q9Y6H1,NP_057223,AAQ96886,EAX07990,AAD44477 Hs.389996,Hs.547257 C7orf17 protein-coding 1321163 CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 1580863 16189514,17624330,16565220,15489334,14702039,12690205,12477932 54927 NM_017812,AC008038,AC009365,AC083873,AC093145,CH236950,CH471070,AK000427,AK129533,BC011596,BC014839,CR590478,CR592685,CR595326,CR597341,CR601305,CR603574,CR606831,CR619969 NP_060282,EAL24074,EAW83800,EAW83801,EAW83802,EAW83803,BAA91157,AAH11596,AAH14839,Q9NX63 Hs.655010 FLJ20420 protein-coding 1321831 CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM] 737633 17336303,16185709,15489334,14702039,12477932 737633 131474 NM_001098502,NM_144636,AC090004,CH471055,AK056271,AK290764,BC017082,BC033775,CR596652,CR598357,CR598522,CR604058,CR618638,DB452249,DB501565 NP_001091972,NP_653237,EAW64180,EAW64181,EAW64182,EAW64183,BAB71132,BAF83453,AAH17082,AAH33775,Q8N4Q1 Hs.517815 FLJ31709|MIA40 protein-coding 1317218 CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 15489334,14702039,12477932 84269 NM_032309,AC012442,CH471217,AK096990,BC004498,CR621804,CR625580 NP_115685,AAX82000,EAW73594,EAW73595,BAC04922,AAH04498,Q585T4,Q8N8C4,Q9BSY4 Hs.375707 C2orf9|FLJ39671|MGC11104 protein-coding 1312070 CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 737633 17624330,15489334,12477932 737633 84303 NM_032343,AC078867,AC092898,AC117450,CH471052,BC006123 NP_115719,EAW79352,AAH06123,Q9BRQ6 Hs.518119 MGC13016 protein-coding 1347837 CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 737633 16736500,15489334,14702039,12477932,9373149,8125298 737633 79145 NM_001011667,NM_001011668,NM_001011669,NM_024300,NM_001011670,NM_001011671,AC107952,CH471068,AK095922,AK098285,AK225982,AK290088,AY070434,BC002546,BX473986,CR601205,CR607136 NP_001011667,NP_001011668,NP_001011669,NP_077276,NP_001011670,NP_001011671,EAW86776,EAW86777,EAW86778,EAW86779,BAC05276,BAF82777,AAL65261,AAH02546,Q7Z588,Q8N7K2,Q9BUK0 Hs.436913 FLJ40966|MGC2217 protein-coding 1602710 CHCHD8 coiled-coil-helix-coiled-coil-helix domain containing 8 16381901,15489336,12477932,11230166,11085516,11076863 51287 AF242180,AK000434,AL359618,BC106036,CR609617,CR624286,NM_016565,AP002770,CH471076 EAW74914,EAW74915,EAW74916,AAF60345,CAH10681,AAI06037,Q9NYJ1,CAL37680,NP_057649 Hs.475387 DKFZp762H1711|E2IG2|MGC117206 protein-coding 1602600 CHCHD9 coiled-coil-helix-coiled-coil-helix domain containing 9 645345 NM_001010916,AL450243 NP_001010916,CAI15794,Q5T1J5 Hs.449436 C9orf49 protein-coding 1315610 CHD1 chromodomain helicase DNA binding protein 1 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. 1580863 9326634,17098252,17081983,16372014,16263726,15146197,14702039,12890497,12522270,12477932,10199952,8889548,8460153,7739555,17353931 1105 NM_001270,AC022121,CH471084,AF006513,AK094871,BC054860,BC117134,BM698633,BQ436172,BX648767,CN277742 NP_001261,EAW96098,AAB87381,AAH54860,AAI17135,O14646,Q17RZ3,Q7Z4M7 Hs.708015 GDB:9837215 DKFZp686E2337 protein-coding 1323647 CHD1L chromodomain helicase DNA binding protein 1-like 1298632 18023026,16344560,14702039,12477932,11329013,11042152,9653160,9373149,8125298,8076819,15902274 1298632 9557 AF054177,AF537213,AK001342,AK026183,AK027631,AK223496,BC001171,BC005038,BC008649,BC043501,BC053354,BC077717,BG195857,DA155685,EC452903,EF560738,NM_004284,AL356378,CH471223 EAW50936,EAW50937,EAW50938,AAC39911,AAO49505,BAA91637,BAB15386,BAB55248,BAD97216,AAH01171,AAH05038,AAH08649,AAH43501,AAH77717,ABQ59048,O75435,NP_004275,CAH72650,Q86WJ1,Q9H678 Hs.191164 GDB:9957337 ALC1|CHDL|FLJ22530 protein-coding 1320737 CHD2 chromodomain helicase DNA binding protein 2 The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 9326634,17606441,16572171,16344560,16204458,15146197,14702039,14684825,12477932 1106 BC047036,BC107885,BT007050,BU630151,BX537626,CN277753,CR627422,CT003638,DB111282,DB121252,DQ088985,DQ088986,AL831836,NM_001042572,AC013394,CH471101,AA907775,AF006514,AK095933,AK292850,AY429527,AY429528,BC007347,BC020810,NM_001271 AAH20810,AAP35699,CAH10509,AAZ85980,AAZ85981,O14647,Q3YLD5,Q3YLD6,Q6AI05,Q8N677,Q96IP5,NP_001262,NP_001036037,EAX02160,EAX02161,EAX02162,EAX02163,EAX02164,EAX02165,AAB87382,BAF85539,AAH07347 Hs.220864 GDB:9837217 DKFZp547I1315|DKFZp686E01200|DKFZp781D1727|FLJ38614 protein-coding 1349317 CHD3 chromodomain helicase DNA binding protein 3 This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. 1580863 9326634,12505151,15383276,9688266,17626165,17489097,17081983,16169070,15635413,15302935,15020045,14702039,14609633,12705869,12477932,12374985,11230151,10961991,10662545,10471500,10204490,9921901,9804427,8889548,8843877,7575689,7560064,1639417,12493763,15456747,15454082 1107 NM_001005271,NM_001005273,NM_005852,AC104581,CH471108,AF064844,AK096555,AK125928,BC110648,BM554923,BX283837,CB851648,U08379,U91543 Q2TAZ1,AAI56473,NP_001005271,NP_001005273,NP_005843,EAW90114,EAW90115,EAW90116,AAI10649,AAC50228,AAC39923,Q12873 Hs.25601 GDB:9837219 Mi-2a|Mi2-ALPHA|ZFH protein-coding 1322684 CHD4 chromodomain helicase DNA binding protein 4 The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. 734775,1580863 10444591,9804427,9790534,8843877,7575689,12354758,12920132,10220385,9326634,7560064,17694084,17626165,17314511,17081983,16186106,15635413,15489334,15302935,15231747,15189737,14702039,14530259,12842043,12493763,12477932,12124384,12015313,11790298,11102443,10545197 734775 1108 NM_001273,AC006064,CH471116,AK128741,BC014964,BC025962,BC038596,CR590459,CR617082,CR936680,X86691 NP_001264,EAW88777,EAW88778,EAW88779,AAH14964,AAH25962,AAH38596,CAA60384,Q05CG6,Q14839,ABZ92034 Hs.162233 GDB:9837221 DKFZp686E06161|Mi-2b|Mi2-BETA protein-coding 1317694 CHD5 chromodomain helicase DNA binding protein 5 Changes in gene expression are associated with changes in chromatin structure, which can result from modification of histones by acetylation and methylation. In addition, SWI/SNF proteins can effect chromatin structure and gene expression by causing ATP-dependent disruption of the nucleosome and by enhancing binding of transcription factors. CHD5 belongs to a group of SWI/SNF proteins called CHD proteins, which contain a SWI/SNF-like helicase/ATPase domain, as well as a DNA-binding domain and a chromodomain that directly modifies chromatin structure (Thompson et al., 2003 [PubMed 12592387]).[supplied by OMIM] 1580863 17289567,17081983,16710414,15489334,14702039,12592387,12168954,11889561,11780052,10718198,9455484 26038 NM_015557,AL031847,AL035406,CH471130,AB007913,AF425231,AK091386,AK126012,AK127046,AL110281,AL117491,AL137693,BC048142,CR617440 NP_056372,CAI19450,CAI19451,CAI19883,EAW71516,BAA32289,AAL98962,BAC86391,BAC86802,CAH56404,CAB55959,CAH56377,Q5TG85,Q5TG86,Q5TG90,Q659D0,Q659F1,Q6ZSZ4,Q6ZU36,Q7LGH2,Q8TDI0,AAI46382,AAI48804 Hs.522898 DKFZp434N231|KIAA0444 protein-coding 1321381 CHD6 chromodomain helicase DNA binding protein 6 Chromosomal DNA of eukaryotic cells is compacted by nuclear proteins to form chromatin, an organized nucleoprotein structure that can inhibit gene expression. Several multisubunit protein complexes exist to remodel the chromatin to allow patterns of cell type-specific gene expression. The protein encoded by this gene is thought to be a core member of one or more of these complexes. The encoded protein, which is a member of the SNF2/RAD54 helicase family, contains two chromodomains, a helicase domain, and an ATPase domain. 1580863 12592387,17525332,17081983,17027977,15489334,15231748,14702039,12477932,12168954,11889561,11780052,10718198 84181 NM_032221,AL031667,AL031669,AL121674,CH471077,AB037756,AF525085,AK026022,AK091551,AK098144,AY034072,BC012516,BC021907,BC039860,BC040016,BF063641,CR749575 NP_115597,CAI42977,CAI42983,EAW75974,EAW75975,EAW75976,EAW75977,EAW75978,EAW75979,EAW75980,EAW75981,BAA92573,AAN59903,BAB15325,AAK56405,AAH21907,Q8TD26 Hs.371979,Hs.697565 CHD5|KIAA1335|RIGB protein-coding 1323630 CHD7 chromodomain helicase DNA binding protein 7 This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. 18472328,18074359,18073582,17661815,17603073,17436250,17299439,17253929,16763960,16400610,16207732,16169932,16155193,16118347,15302935,15300250,14702039,12477932,12168954,10737800,10718198,10590394,9373149,8125298 55636 NM_017780,NG_007009,AC023102,AC113143,CH471068,AB037837,AK000364,AK000368,AK123158,AK225354,AL833190,AW750162,BC014681,BC033116,BC041018,BC051264,BC053890,BC080627,BC110818,CR602498,BC068000 NP_060250,EAW86830,EAW86831,EAW86832,EAW86833,EAW86834,BAA92654,BAA91113,BAA91116,BAC85544,AAH14681,AAH51264,AAH53890,AAH68000,AAH80627,AAI10819,Q6ZWF9,Q9P2D1 Hs.709651 FLJ20357|FLJ20361|IS3|KIAA1416 protein-coding 1342489 CHD8 chromodomain helicase DNA binding protein 8 1580863 16949368,17938208,17081983,16964243,15489334,15367660,14702039,12477932,12168954,11744694,11549288,10997877,10921920,7505766,15456888 57680 BC011695,CR749315,U00930,BC025964,BC036920,BC063693,BC073903,BC098452,NM_020920,AL135744,AL161747,CH471078,AB046784,AK056639,AK098408,AK122868,AK122910,AK131077,AL834524 CAH18170,Q4G0D8,Q6DKH9,Q6P440,Q6ZNL7,Q9HCK8,AAH11695,AAH25964,AAH36920,AAH63693,AAH73903,AAH98452,NP_065971,EAW66385,BAB13390,BAC85127,CAD39180 Hs.530698 DKFZp686N17164|HELSNF1|KIAA1564 protein-coding 1315612 CHD9 chromodomain helicase DNA binding protein 9 16554032,17081983,16705189,16523501,16095617,14702039,12477932,10931946,9205841,8889548 80205 NM_025134,AC007906,AC079416,CH471092,AB002306,AK022240,AK022582,AK092208,AL693511,AY243500,AY243501,AY243502,AY647157,BC022889,BC027491,BC033770,BC140815,BM667038,BX390832,CR609999,DQ059482,DQ333316 NP_079410,EAW82794,EAW82795,EAW82796,EAW82797,EAW82798,BAA20767,BAB13994,BAB14112,BAC03829,AAQ24287,AAQ24288,AAT66509,AAH33770,AAI40816,AAY87153,ABD24032,Q3L8U1,Q461N2,EAW82793,Q8N4Q2,Q8NAR9,Q9HA62 Hs.59159 AD013|CReMM|KISH2|PRIC320 protein-coding 1347167 CHDH choline dehydrogenase 1580863 18230680,17975144,16816108,15489334,12477932 55349 NM_018397,AC012467,CH471055,AJ272267,BC034502 NP_060867,EAW65296,EAW65297,CAB75961,AAH34502,Q8NE62 Hs.126688 protein-coding 1351462 CHE2 cholinesterase (serum) 2 2758686 1110 GDB:119776 1344600 CHED1 corneal endothelial dystrophy 1 (autosomal dominant) 8634716 8197 GDB:3837719 1353204 CHED2 corneal endothelial dystrophy 2 (autosomal recessive) 10209448,10512674 9574 GDB:9957389 732292 CHEK1 CHK1 checkpoint homolog (S. pombe) 1580863 16501606,16414312,16280359,16217032,16163388,16159883,16137618,16123041,15974586,15961392,15870257,15831461,15798197,15775976,15761153,15743907,15710331,15707391,15705874,15699047,15688426,15665856,15659650,15655357,15650047,15647386,15601819,15539958,15526025,15489334,15342556,15326376,15324660,15311285,15279790,15225637,15220350,14988723,14759516,14681223,14681206,14657349,14624239,14570880,14559997,14504477,12959929,12955071,12902976,12813133,12791699,12766152,12759351,12756247,12738771,12676962,12676925,12676583,12660173,12588868,12477932,12446774,12244092,12150968,12062056,11912127,11896572,11836499,11821419,11709713,11551930,11535615,16330544,16963448,17157788,17292828,9278512,9278511,12791985,9382850,12399544,18434539,18381943,18339864,18331829,18270339,18243098,18229454,18088187,18029388,17986860,17962807,17912454,17879369,17726372,17716975,17684142,17638866,17611684,17544403,17491592,17468739,17464182,17408908,17296736,17276342,17274954,17106257,17102638,17015476,17003105,16951182,16927022,16912045,16885021,16880517,16873548,16828751,16732333,16652144,16649252,16629900,16619043,16581803,11390642,11333986,11329013,11252893,10859164,10761933,10717241,10681541,10673501,10557092,9765199,16306615,15364958,10608806,12963847,15735702,11799067 1111 NM_001114121,NM_001114122,AB032387,AF527555,AP001132,AY304548,CH471065,AF016582,AF032874,AK292549,BC004202,BC017575,BG191840,BG216281,BG218896,BP207812,CR591943,CR597063,CR609507,CR612881,NM_001274 NP_001265,NP_001107593,NP_001107594,BAA84577,AAM78553,AAQ76038,EAW67644,AAC51736,AAB88852,BAF85238,AAH04202,AAH17575,O14757,Q6W8P8,ABM83833,ABM87141 Hs.24529 GDB:9834732 CHK1 protein-coding 732861 CHEK2 CHK2 checkpoint homolog (S. pombe) In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Three transcript variants encoding different isoforms have been found for this gene. 1580863,1599601,2289704,2289706,2289703,2289705,2289707,2289708 12402044,9836640,9889122,10617473,18484200,18415014,18381943,18381420,18281249,18270339,18253122,18178638,18175216,18172190,18167186,18086786,18086781,18085035,18058223,18024013,18004398,17918154,17721994,17715138,17705858,17698850,17694537,17684142,17671118,17663721,17661168,17634426,17544403,17517688,17464182,17428325,17428320,17409195,17409144,17380889,17372254,17341484,17333477,17333333,17317627,17250914,17214356,17178848,17169815,17164383,17164260,17145815,17132695,17132159,17113724,17106448,17101782,17085682,17077104,17040931,17030982,17026620,17010071,16998506,16998498,16943424,16941491,16940182,16936775,16914568,16905549,16883537,16880452,16858628,16835864,16835227,16830057,16828850,16816021,16798742,16790090,16758118,16741947,16732333,16705183,16671833,16596250,16574953,16539695,16492927,16481012,16452051,16437383,16414312,16341674,16337852,16257342,16239104,16163388,16078115,16043347,15987456,15980987,15964795,15942682,15876876,15862297,15852425,15818573,16317088,16311512,15810020,15803365,15803363,15700044,15694385,15668230,15659650,15649950,15647386,15618221,15601819,15535844,15492928,15489334,11751432,11746983,11741546,11719428,11715017,11551930,11461078,11438675,11390408,11333986,11298456,11172707,11073977,10973490,10801407,10744722,10724175,10710310,10673500,10591208,10557092,10435585,10097108,9857181,9450932,9407135,9278512,15122511,16983346,16189514,15933716,15790808,15064416,15488637,15472904,15467464,15466005,15461802,15385111,15361853,15361851,15361830,15342622,15239132,15192702,15095295,15087378,15057041,15048074,15044452,15024084,14997059,14970869,14701743,14681223,14678969,14648717,14624239,14612911,14568168,14514889,14507240,12917215,12909615,12897801,12855706,12810724,12805407,12717439,12711320,12690581,12676583,12654917,12654916,12610780,12607004,12556502,12551934,12548019,12533788,12529183,12493754,12477932,12454775,12447371,12441400,12393693,12386164,12242661,12111733,12094328,12052256,12049741,12049740,12024051,11984555,11967536,11901158,11875739,11821419,11793476 1599601,2289704,2289706,2289703,2289705,2289707,2289708 11200 AF174135,AF217975,AJ131197,AJ783839,AK289360,AK290754,AW778747,AY551295,AY551296,AY551297,AY551298,AY551299,AY551300,AY551301,NM_007194,NM_001005735,AL117330,AL121825,AY800241,CH471095,AB040105,AF086904,AF096279,NM_145862,AY551302,AY551303,AY551304,AY551305,BC004207,BE856024,BM838597,CR456418,CR595769,CR596630,CR602347,CR615398,CR617629,CR618816,CR619314,CR620861,CR622982,CR623156 AAD48504,AAG17218,CAA10319,CAH04270,AAD11784,BAF82049,BAF83443,AAS58456,AAS58457,AAS58458,AAS58459,AAS58460,AAS58461,AAS58462,NP_665861,NP_009125,NP_001005735,CAH73875,CAH73823,AAV41895,EAW59754,EAW59755,EAW59756,EAW59757,BAB17231,AAC83693,AAS58463,AAS58464,AAS58465,AAS58466,AAH04207,CAG30304,O96017,Q683Z8,Q9HBS5,CAK54410,CAK54709,ABM84059,ABM87412 Hs.291363,Hs.505297,Hs.632780 GDB:9958730 CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53 protein kinase chk2 protein-coding 1313214 CHERP calcium homeostasis endoplasmic reticulum protein 1580863 8896557,15146197,12477932,10794731 10523 NM_006387,AC008764,CH471106,AA782418,AB209730,AF536542,BC001552,BC021294,BC035039,CN336425,CR602259,U94836,Y08265 NP_006378,EAW84549,BAD92967,AAN77183,AAH21294,AAH35039,AAB53327,CAA69591,Q59ET1,Q8IWX8 Hs.631627 GDB:9957554 DAN16|SCAF6|SRA1 protein-coding 1314932 CHFR checkpoint with forkhead and ring finger domains 10935642,18172500,18079053,17786301,17673375,17596595,17442268,17201143,16554732,15937956,15760919,15674323,15489334,15467728,15302856,15201973,14702039,14695171,14694445,14654793,14638868,14612512,14562038,12810945,12538348,12477932,12376479,12121644,11948416,11912157,11807090,15793587 55743 AK027687,AK054917,AK090948,AK097671,AL137561,BC012072,CR625905,NM_018223,AC127070,CH471218,AF170724,AK001658 BAB55297,CAB70812,AAH12072,Q96EP1,ABM83158,ABM86359,NP_060693,EAW54809,EAW54810,EAW54811,EAW54812,EAW54813,EAW54814,EAW54815,AAF91084,BAA91817 Hs.656770 FLJ10796|FLJ33629|RNF116|RNF196 protein-coding 730836 CHGA chromogranin A (parathyroid secretory protein 1) The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Other peptides, including chromostatin, beta-granin, WE-14 and GE-25, are also derived from the full-length protein. However, biological activities for these molecules have not been shown. 1580863 8406464,18374882,18262756,18235090,18158567,18074379,18061980,18046660,17991725,17985422,17929277,17718510,17599769,17578828,17510497,17438154,17438153,17438105,17379958,17293489,17126478,17060047,17032650,17003646,16807684,16504480,16450720,16408221,16344560,16330879,16199891,16151967,16007257,15956083,15788643,15648545,15542860,15489334,15462496,15337252,14997482,14968443,14759560,14740315,14734634,12826904,12692477,12687271,12477932,12456801,12442257,12438141,12432071,12397377,12388744,12165659,12091348,11342539,9852066,9373149,9115255,8910482,8617499,8577930,8125298,8120054,8096340,7768066,3814131,3762065,3718511,3704195,3403545,2830133,2445752,2165909,1577173 1113 NM_001275,AL117192,CH471061,U03742,U03746,U03747,U03749,AK223381,BC001059,BC006459,BC009384,BC012755,BT006869,BX248263,CR593864,CR596293,CR598626,CR599908,CR599984,CR602096,CR613413,CR616206,CR623573,CR623696,CR625447,DA201149,J03483,J03915 NP_001266,EAW81505,EAW81506,AAB53685,BAD97101,AAH01059,AAH06459,AAH09384,AAH12755,AAP35515,CAD62591,AAA52017,AAA52018,P10645,Q53FA8,Q6NR84,Q86T07,ABM82746,ABM85933 Hs.150793 GDB:119777 CGA protein-coding 737067 CHGB chromogranin B (secretogranin 1) Chromogranin B is a tyrosine-sulfated secretory protein found in a wide variety of peptidergic endocrine cells. Chromogranin functions as a neuroendocrine secretory granule protein which may be the precursor for other biologically active peptides. 1580863 3608978,18180394,17143778,16807684,16199891,16169070,15489334,15219467,15138309,14997482,14506248,12826904,12692477,12477932,12438147,12165659,12133905,12091348,11959426,11931350,11854265,11780052,10391491,9588759,9373149,9199667,8125298,7891024,3970711,3678488,1882087,1769666,1518561 1114 NM_001819,AL035461,CH471133,AB209712,AK225125,AK289386,BC000375,CR456726,Y00064 NP_001810,CAB55272,CAC34360,EAX10410,BAD92949,BAF82075,AAH00375,CAG33007,CAA68271,P05060,ABM82341,ABW03436 Hs.516874 GDB:118770 SCG1 protein-coding 732419 CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) 1580863 17565739,17545529,17543889,17236752,17160890,17020973,16960935,16955240,16818690,16344560,16234240,15867231,15829322,15788675,15569925,15489334,14702039,14555515,12957359,12933821,12851408,12799184,12775711,12759455,12477932,12435396,12124825,12071845,12069012,11986266,10772238,10515841,10461474,9492324,9417865,9373149,9244440,8125298,8245017,18281018,18217402,18190830,18182077,17957792,17712177,17631744,17599744,2375755,16189514 1116 AC105940,AJ251847,CH471067,Y08374,Y08378,AB209459,AK095458,AK130142,AK130200,AK225266,AK225584,BC008568,BC034684,BC038354,BC039132,NM_001276,BT007223,BX648308,CR602274,CR623103,DA167112,M80927 NP_001267,CAB76472,EAW91467,EAW91468,CAA69661,BAD92696,AAH08568,AAH38354,AAH39132,AAP35887,AAA16074,P36222,Q59FK1,Q9NY41,ABM81703,ABM84863 Hs.382202 GDB:269865 DKFZp686N19119|FLJ38139|GP39|HC-gp39|HCGP-3P|YKL40|YYL-40 protein-coding 1350449 CHI3L2 chitinase 3-like 2 1580863 8702629,16341674,12477932,12435396,9373149,8125298 1117 NM_001025197,NM_001025199,AL513202,CH471122,AK223316,BC011460,BG698401,BM787868,BQ181849,BT006767,CR597779,CR599276,CR603396,CR608464,NM_004000,CR610069,CR623620,CR625467,CR626113,U49835,U58514,U58515 NP_003991,NP_001020368,NP_001020370,CAH70799,EAW56480,EAW56481,BAD97036,AAH11460,AAP35413,AAC50597,AAB04533,AAB04534,Q15782,Q53FH2,Q5VUV7,Q96F97,ABM84631 Hs.514840 GDB:438339 YKL-39|YKL39 protein-coding 1604020 CHIA chitinase, acidic 11085997,10548734,16584180,15489334,15192232,12971947,12477932 27159 NM_201653,AL356387,AL513202,CH471122,AB025008,AB025009,AF290004,AK098814,AK290702,AY789444,AY789445,AY825504,AY911310,AY911311,BC036339,NM_021797,BC047336,BC106910,BC139901,BC139920 NP_068569,NP_970615,CAI19263,CAI19265,CAI19266,CAH70802,CAH70803,CAH70804,EAW56485,EAW56486,EAW56487,EAW56488,BAA86980,BAA86981,AAG60019,BAF83391,AAX81431,AAX81432,AAX54833,AAX81433,AAX81434,AAH36339,AAH47336,AAI06911,AAI39902,AAI39921,Q1M0P3,Q1M0P4,Q2VT96,Q5VUV3,Q5VUV5,Q9BZP6 Hs.128814 2200003E03Rik|AMCase|CHIT2|DKFZp313J1722|RP5-1125M8.1|TSA1902 protein-coding 1349014 CHIC1 cysteine-rich hydrophobic domain 1 15772651,15489334,12477932,11257495,9321471 53344 NM_001039840,AL356513,AL358796,CH471104,AK057786,AL832095,BC050300,BC127727,BC127728,CR627010,CR936642,DC382882,Y11897 NP_001034929,EAW98663,AAI27728,AAI27729,CAI56782,Q5CZ84,Q5JSZ4,Q5VXU3 Hs.496323 GDB:9993150 BRX|DKFZp313P1931|DKFZp686F2342 protein-coding 1319536 CHIC2 cysteine-rich hydrophobic domain 2 This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. 1580863 10477709,16189514,15489334,12842979,12477932,11257495 26511 NM_012110,AC110792,CH471057,AF159423,BC034691,BI828538,CR611915,CR624224 NP_036242,EAX05453,AAD55981,AAH34691,Q9UKJ5,ABM81637,ABM84819 Hs.335393 GDB:10796284 BTL|MGC21173 protein-coding 1604307 CHID1 chitinase domain containing 1 16357325,16303743,15489334,14702039,12477932,9373149,8125298 66005 NM_023947,AP006623,CH471158,AF212229,AK027711,AK075413,AK124697,AK225025,AK225398,AY037151,BC000001,BC013642,BC095409,BN000479 NP_076436,EAX02413,EAX02414,EAX02415,AAK14915,BAB55316,BAC11603,AAK67632,AAH00001,AAH13642,AAH95409,CAF32458,Q9BWS9 Hs.144468 FLJ42707|GL008|MGC3234|SI-CLP protein-coding 1313797 CHIT1 chitinase 1 (chitotriosidase) Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. 1580863 9748235,9402970,18190830,18069420,18068392,17976376,17916351,17765019,17693102,17464953,17460177,17291472,17290100,17136386,17106626,17075695,16848812,16712652,16110781,16107886,15702402,15489334,15342556,15218258,14702039,14551607,12893688,12482412,12477932,12221666,11960986,9492324,9373149,8125298,7836450,7592832 1118 NM_003465,AC105940,CH471067,AK055165,AK131093,AK225245,BC069614,BC103695,BC105680,BC105681,BC105682,BP304256,BQ029424,U29615,U62662 NP_003456,EAW91469,EAW91470,EAW91471,BAC85143,AAH69614,AAI03696,AAI05681,AAI05682,AAI05683,AAC50246,AAG10644,Q0VGG6,Q13231,Q6ZNK1 Hs.201688,Hs.670281 GDB:1313470 CHI3|CHIT|FLJ00314|MGC125322 protein-coding 1604072 CHKA choline kinase alpha The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. 10363580,18172309,17184542,16820874,15489334,15003397,14702039,12477932,12176020,12082619,12062430,11840339,9113621,9038210,8069533,1618328,208357,36885 1119 NM_212469,NM_001277,NG_007878,AP002807,AP002992,CH471076,AI809679,AK054792,AK092643,AL834403,BC036471,BE260889,BG703955,BG723115,BI195927,BU617910,D10704 NP_997634,NP_001268,EAW74694,EAW74695,EAW74696,AAH36471,BAA01547,P35790 Hs.569019,Hs.660592 CHK|CKI protein-coding 1604071 CHKB choline kinase beta Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. At least two transcript variants encoding two different isoforms have been found for this gene, and one of the transcripts is bicistronic. 15489334,15461802,15003397,14702039,12477932,11258795,10918069,10706593,10493829,9487136,9370318,9224698 1120 NG_003100,NM_152253,AB003286,AB029885,CH471138,U62317,NM_005198,AB029886,AB051457,AK097775,AL096780,AL096781,BC024286,BC037162,BC050443,BC056404,BC082263,BC101488,BC113521,BE676287,CR456419,CR600292 NP_005189,NP_689466,BAA21491,BAA82511,EAW73573,EAW73574,EAW73575,AAB03342,BAA82512,CAB46629,CAB46630,AAH82263,AAI01489,AAI13522,CAG30305,O15094,Q9Y259,CAK54411,CAK54710 Hs.439777,Hs.654827 CHETK|CHKL protein-coding 1346370 CHL1 cell adhesion molecule with homology to L1CAM (close homolog of L1) The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. Several alternatively spliced transcript variants of this gene have been described, but their full length nature is not known. 1358505,1580863 9799093,17592550,16597699,16335952,15704102,15653271,15489334,12477932,11986985,10508992 1358505 10752 NM_006614,AC011609,AC026187,AC066595,CH471055,AB209329,AF002246,AK126878,BC104918,BF056756 NP_006605,EAW63868,EAW63869,BAD92566,AAB60937,AAI04919,O00533 Hs.148909 GDB:9865699 CALL|FLJ44930|L1CAM2|MGC132578 protein-coding 732475 CHM choroideremia (Rab escort protein 1) The choroideremia gene encodes for a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking.[supplied by OMIM] 1580863,704404,704419 8380507,7981670,18087237,17698759,16936131,16087855,15772651,15579993,15465555,15242790,15186776,14702039,14566650,12827496,12620235,12576024,12535645,12477932,11886217,11297488,11141079,10022613,9563513,9437002,8477262,8294464,7957092,7951216,2220804,2215697,1904992,1598901,1549574,1373238,1302003 704419 1121 M83773,X57637,X78121,AL009175,AL022401,AL035451,AL138748,CH471104,S37423,AK095883,AK291160,AY255796,BC032237,BC063522,BC065702,BC073987,BC105969,BC130494,BC130496,NM_000390 AAI30497,AAA61032,CAA40855,CAA55011,P24386,Q5JY72,Q8N917,AAI56458,NP_000381,EAW98559,AAD13814,BAC04640,BAF83849,AAP15253,AAH65702,AAH73987,AAI05970,AAI30495 Hs.496449 GDB:120400 DXS540|FLJ38564|GGTA|HSD-32|MGC102710|REP-1|TCD protein-coding 1313260 CHML choroideremia-like (Rab escort protein 2) The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. 1580863 1301160,12477932,12242008,11056004,9730828,8294464,8188272,7981670,7592656,18344558,16710414,16344560,16341674,15489334,15146197,14702039,12535645 1122 AF482426,AL133390,CH471098,AK000933,AK023423,BC117360,BG108374,BI088411,BM457359,BM470658,BM557064,BM763291,BM806625,BQ775652,BU187416,NM_001821,BU195066,CB160778,CN415289,DA612361,X64728 NP_001812,AAO15716,CAC19784,EAW70100,AAI17361,CAA45979,P26374 Hs.654545 GDB:135222 FLJ10071|FLJ13361|REP2 protein-coding 1346526 CHMP1A chromatin modifying protein 1A This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. 8863740,11559748,12445808,11559747,9837962,15489334,14519844,14505570,14505569,12477932,7584044 5119 Q9HD42 NM_002768,NM_001083314,AC010538,CH471184,AF281063,BC007527,BC010000,BC132711,BC132713,BG480548,BI826757,BT006841,CR613704,CR618565,CR620879,D38554,U58048 NP_002759,NP_001076783,EAW66715,EAW66716,EAW66717,AAG01448,AAH10000,AAI32712,AAI32714,AAP35487,BAA07557,AAC50775,Q9HD42 Hs.589427 GDB:138346 CHMP1|KIAA0047|PCOLN3|PRSM1 protein-coding 1603626 CHMP1B chromatin modifying protein 1B CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17928862,17711858,16730941,16174732,16094257,15537668,15489334,14519844,14505570,14505569,12477932,11559748,11559747,11474171 57132 NM_020412,AF306520,AP005137,CH471113,AF281064,BC012733,BC065933,CR595721,CR595824,CR600805,CR609374,CR609924,CR616002,CR618865,CR626295 NP_065145,AAL48200,EAX01575,AAG01449,AAH12733,AAH65933,Q7LBR1 Hs.656244 C10orf2|C18-ORF2|C18orf2|CHMP1.5|Vps46-2 protein-coding 1603659 CHMP2A chromatin modifying protein 2A CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17928862,16730941,16565220,15489334,15173323,14702039,14519844,14505570,14505569,12665801,12477932,11559748 27243 NM_014453,NM_198426,AC016630,AJ277113,CH471135,AF042384,AK092868,AY364248,BC002502,BC047005,BE856471,BG546479,BI457978,BT007298,BU147101,CR457002 NP_055268,NP_940818,CAC14310,EAW72608,EAW72609,EAW72610,EAW72611,AAC00005,AAQ76807,AAH02502,AAP35962,CAG33283,O43633,ABM83513,ABM86731 Hs.12107 BC-2|BC2|CHMP2|VPS2|VPS2A protein-coding 1603668 CHMP2B chromatin modifying protein 2B This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. 17928862,11256614,17956895,17353931,16979267,16964243,16941655,16807408,16730941,16565220,16431024,16344560,16341674,16189514,16041373,15489334,15223008,14702039,14519844,14505570,14505569,12477932,11559748,11230166,10810093,10436350,9373149,8889548,8541850,8125298 25978 NM_014043,NG_007885,AC123511,AC130885,CH471110,AF151842,AK002165,AK002180,AK222654,AL080122,BC001553,BM828410,BM982148,CR533456,CR608494,DA426159 NP_054762,EAW68868,AAD34079,BAD96374,CAB45721,AAH01553,CAG38487,Q9UQN3 Hs.476930 CHMP2.5|DKFZP564O123|DMT1|VPS2-2|VPS2B protein-coding 1342527 CHMP4A chromatin modifying protein 4A CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17350572,18209100,17547705,16730941,16189514,15632132,15489334,14678797,14583093,14519844,14505570,14505569,12860994,12477932,11042152 29082 NM_014169,AL096870,AL136295,CH471078,AB100262,AF161483,AF212243,AW732226,AY329084,BC010893,BC107699,BC113533,BC113535,BX161512,CR624796 NP_054888,EAW66065,EAW66066,EAW66067,EAW66068,BAC79376,AAF29098,AAK14928,AAQ91193,AAH10893,AAI07700,AAI13534,AAI13536,CAD61949,Q14D22,Q9BY43 Hs.279761 C14orf123|CHMP4|CHMP4B|HSPC134|MGC142093|MGC142095|SNF7|SNF7-1|Shax2 chromosome 14 open reading frame 123 protein-coding 1320409 CHMP4B chromatin modifying protein 4B CHMP4B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 18209100,17701905,17428861,16730941,16189514,15511219,15489334,15007060,14678797,14583093,14519844,14505570,14505569,12860994,12477932,11780052 128866 NM_176812,AL050349,CH471077,AB100261,AY329085,AY726594,BC033859,BQ926070,CR592058,CR594629,CR601594,CR607577,CR610271,CR611521,CR615467,CR615678,CR616273,CR623996,CR625458 NP_789782,CAC14088,EAW76293,EAW76294,BAC79375,AAQ91194,AAH33859,Q9H444 Hs.472471 GDB:11505198 C20orf178|CHMP4A|CTPP3|SNF7|SNF7-2|Shax1|dJ553F4.4 chromosome 20 open reading frame 178 protein-coding 1606751 CHMP4C chromatin modifying protein 4C CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 16730941,15489334,14678797,14583093,14519844,14505570,14505569,12860994,12477932,16189514 92421 NM_152284,AC132219,CH471068,AB120734,AK000049,AY329086,BC014321,BQ778244,BX492886 NP_689497,EAW87107,BAC87888,AAQ91195,AAH14321,Q96CF2 Hs.183861 MGC22825|SNF7-3|Shax3 protein-coding 1314312 CHMP5 chromatin modifying protein 5 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17353931,16730941,16189514,15644320,15489334,15164053,14519844,14505570,14505569,12477932,11559748,11042152,10810093 51510 NM_016410,AL356472,CH471071,AF132968,AF161525,AF229832,AF275810,AK024753,BC006974,BC007457,BC016698,BC018603,BC020796,BC021168,CR592776,CR596621,CR601311,CR606161,CR621695 NP_057494,CAH72744,EAW58512,EAW58513,AAD27743,AAF29140,AAF42917,AAG23821,AAH06974,AAH07457,AAH16698,AAH20796,AAH21168,Q9NZZ3,ABM84105,ABM87478,ABM87479 Hs.635313 C9orf83|CGI-34|HSPC177|PNAS-2|SNF7DC2 chromosome 9 open reading frame 83 protein-coding 1606234 CHMP6 chromatin modifying protein 6 CHMP6 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM] 17353931,16730941,15511219,15489334,14702039,14583093,14519844,14505570,14505569,12477932,11559748,9373149,8125298 79643 NM_024591,AC127496,CH471099,AK021811,AK223187,AK292105,AY329087,BC010108,CR457284 NP_078867,EAW89622,BAB13901,BAD96907,BAF84794,AAQ91196,AAH10108,CAG33565,Q96FZ7 Hs.514560 FLJ11749|VPS20 protein-coding 1602310 CHMP7 CHMP family, member 7 16964243,16856878,16189514,15489334,14702039,12477932,17711858 91782 NM_152272,AC100861,CH471080,AK021776,AK092500,AK097202,AL832313,AL833843,BC004344,BC019110,BC042050,CR606249,CR620549 NP_689485,EAW63631,EAW63632,EAW63633,EAW63634,CAD38703,AAH04344,AAH19110,AAH42050,Q8WUX9 Hs.5019 MGC29816 protein-coding 732086 CHN1 chimerin (chimaerin) 1 1580863 8336731,18249095,15815621,15761153,15489334,15013773,14702039,12477932,11438594,8496137,7867622,2299665,2268301,1445199 1123 NM_001822,NM_001025201,AC007435,AC018890,AC020596,CH471058,S75654,AB209788,AK055060,AK289941,BC011393,BQ893027,CR456864,CR598099,CR603631,CR624856,X51408,Z22641 NP_001813,NP_001020372,AAY14688,AAY14940,EAX11117,EAX11118,EAX11119,EAX11120,EAX11121,AAB33506,BAD93025,BAF82630,AAH11393,CAG33145,CAA35769,CAA80354,P15882,Q59EM3,Q6IBE0,ABM92230,ABM84710 Hs.654534 GDB:127823 ARHGAP2|CHN|RHOGAP2 protein-coding 1350256 CHN2 chimerin (chimaerin) 2 This gene is a member of the chimerin family and encodes a protein with a phorbol-ester/DAG-type zinc finger, a Rho-GAP domain and an SH2 domain. This protein has GTPase-activating protein activity that is regulated by phospholipid binding and binding of diacylglycerol (DAG) induces translocation of the protein from the cytosol to the Golgi apparatus membrane. The protein plays a role in the proliferation and migration of smooth muscle cells. Decreased expression of this gene is associated with high-grade gliomas and breast tumors, and increased expression of this gene is associated with lymphomas. Mutations in this gene have been associated with schizophrenia in men. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 7614486,8175705,18249095,17803461,17560670,16525710,16428439,16352660,16344560,15863513,15761153,15653288,15507211,15489334,14702039,12877655,12853948,12716467,12690205,12477932,11689559,11278894,10518540,9334226 1124 NM_004067,NM_001039936,AC004417,AC004593,AC007255,CH236948,CH471073,AA521339,AF147327,AK026415,AK123927,AK124021,AK126784,BC112155,BQ446523,DA096970,DA105459,U28926 NP_004058,NP_001035025,AAC06177,AAS02045,AAS07498,EAL24205,EAW93919,AAI12156,AAA86528,P52757,Q75MY2 Hs.654611,Hs.654753,Hs.663145,Hs.710429 GDB:6874910 ARHGAP3|BCH|MGC138360|RHOGAP3 protein-coding 1320469 CHODL chondrolectin This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. 1580863 12079284,17606388,15489334,14702039,12975309,12621022,12477932,11707072,10830953 140578 NM_024944,AL078474,CH471079,AF257472,AF523313,AF523314,AF523315,AY358608,BC009418 NP_079220,EAX10018,AAL05981,AAP43902,AAP43903,AAP43904,AAQ88971,AAH09418,Q9H9P2,ABM84183,ABM87585 Hs.283725 GDB:11508921 C21orf68|FLJ12627|MT75|PRED12 protein-coding 1312263 CHORDC1 cysteine and histidine-rich domain (CHORD)-containing 1 12477932,10571178,9373149,8125298 26973 NM_012124,AP002364,BX537692,CH471065,AF123249,AF192466,AF217505,AK225365,AK225565,AK226099,AK290231,BC002339,BC017789,BC072461,CR604269,CR613194,CR623645 NP_036256,EAW66867,EAW66868,EAW66869,EAW66870,EAW66871,AAG43237,AAF18437,AAF67616,BAF82920,AAH17789,AAH72461,Q9NZ93,Q9UHD1 Hs.22857 GDB:9456620 CHP1 protein-coding 1343985 CHORDC2P cysteine and histidine-rich domain (CHORD)-containing 2 pseudogene 317775 NG_002473,AL137230 pseudo 736499 CHP calcium binding protein P22 This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. 8901634,17050540,16511206,15489334,15312048,15035633,14702039,12576672,12477932,12226101,12204119,11481038,11350981,10593895,8626580,7829101,16189514 11261 NM_007236,AC012652,CH471125,AK000095,AK094363,AV761136,BC008373,BC031293,BE250654,BG398684,BI491312,BM828547,BQ213482,BX391712,CR536539,CR542085,CR613629,U61538 NP_009167,EAW92474,EAW92475,EAW92476,EAW92477,AAH08373,AAH31293,CAG38776,CAG46882,AAB37770,Q96HL9,Q99653 Hs.406234,Hs.706184 GDB:9957586 SLC9A1BP protein-coding 1606515 CHP2 calcineurin B homologous protein 2 17708351,16710297,12576672,12226101,12097419,10493829,8901634 63928 NM_022097,AC012317,AC130454,CH471145,AF146019,AK290253 NP_071380,EAW55800,EAW55801,AAG14945,BAF82942,O43745,AAI52867 Hs.178589 protein-coding 1603198 CHPF chondroitin polymerizing factor 15231747,15489334,15231748,14702039,12975309,12761225,12716890,12477932,11230166 79586 NM_024536,AC009955,CH471063,AB086063,AB095813,AK026331,AL136814,AY358403,BC008878,BC021223,BC023531,CR607445,CR625437 NP_078812,EAW70764,EAW70765,EAW70766,EAW70767,EAW70768,EAW70769,EAW70770,BAC81536,BAC78393,BAB15449,CAB66748,AAQ88769,AAH08878,AAH21223,AAH23531,Q8IZ52 Hs.516711 CHSY2|CSS2|FLJ22678 protein-coding 1349185 CHPT1 choline phosphotransferase 1 1580863 10893425,16303743,15936720,14702039,12477932,12359261 56994 NM_020244,AC010205,AC063950,CH471054,CQ784008,AF047431,AF111803,AF195623,AF195624,AK075211,AK093067,AK226127,AY166717,AY166718,AY280609,AY280610,AY294627,BC020819,BC050429,CD300296,CR590259,CR591873,CR592188,CR596586,CR603077,CR608650,CR621563,CR624037 NP_064629,EAW97673,EAW97674,EAW97675,EAW97676,EAW97677,CAF86967,AAD44019,AAL39005,AAF87947,AAF87948,AAN86122,AAN86123,AAP34412,AAP34413,AAP37157,AAH20819,AAH50429,Q8WUD6 Hs.293077 GDB:11505784 CPT|CPT1 protein-coding 1354352 CHR chromate resistance; sulfate transport 7177110,9732752 1125 GDB:119057 1319606 CHRAC1 chromatin accessibility complex 1 CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM] 1580863 10880450,15489334,14702039,12477932,12434153,11000277,16189514 54108 NM_017444,AC107375,CH471060,AF226076,AK023537,BC015891,CR590458,CR605303 NP_059140,EAW92206,AAF72416,BAB14601,AAH15891,Q9NRG0,ABM86546,ABW03665 Hs.279704 GDB:11508336 CHARC1|CHARC15|CHRAC15|YCL1 protein-coding 1348275 CHRD chordin This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequence has not been determined. 1580863 9782094,16713569,16449796,15489334,14759258,12975309,12477932,11992721,11472837,11260715,10648240,10480362,10479448,9110174,8619474,15775969 8646 NM_003741,AC078797,AF136632,AF136633,AF136634,AF136635,CH471052,AB208947,BC112345,AF038198,AF076612,AF209928,AF209929,AF209930,AF283325,AK074147,AY358926,BC029879 NP_003732,AAF70236,AAF70237,AAF70238,AAF70239,EAW78239,EAW78240,EAW78241,EAW78242,BAD92184,AAI12346,Q59H12,Q8N2W7,Q8TEH7,Q9H2X0,AAC69835,AAG35767,AAG35768,AAG35769,AAG35784,BAB84973,AAQ89285,AAH29879 Hs.166186 GDB:9956116 MGC133038 protein-coding 1349204 CHRDL1 chordin-like 1 1580863 15621726,17029022,15772651,15489334,14702039,12477932,11441185,11118896 91851 NM_145234,AL049176,AL591489,CH471120,AB209548,AK092245,AK293106,AY608914,BC002909,CR604833,CR623913 NP_660277,EAX02655,EAX02656,EAX02657,BAD92785,BAF85795,AAU25841,AAH02909,Q539E4,Q59FB2,Q5JRE2,Q9BU40 Hs.496587 CHL|NRLN1|VOPT|dA141H5.1 protein-coding 1314650 CHRDL2 chordin-like 2 15340161,15094188,14660436,12975309,12853144,12477932 25884 NM_015424,AP001324,CH471076,AF332891,AL047873,AL110168,AY163868,AY279090,AY279091,AY279092,AY279093,AY279094,AY358522,BC142623 NP_056239,EAW74944,EAW74945,AAG50288,CAB53666,AAO31809,AAQ19179,AAQ19180,AAQ19181,AAQ19182,AAQ19183,AAQ88886,AAI42624,Q6WN33,Q6WN34,Q9BZ90,Q9UG17,AAI41565,AAI53101 Hs.432379 BNF1|CHL2|DKFZp586N2124|FKSG37 protein-coding 1351978 CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. 17192894,17012698,16823804,16572171,16417613,15885267,15489334,14729617,12477932,11829490,11424985,9782083 89832 NM_148911,NM_139320,AC019322,AF332759,AY641831,AF029838,AF029839,AF036903,AK292984,BC101345,BC101346,BC101347,BC101348,BQ720423,CR605947,AF037646 NP_683709,NP_647536,AAT81394,BAF85673,AAI01346,AAI01347,AAI01348,AAI01349,Q494W8,Q693P7 Hs.510853 GDB:11508338 CHRNA7|CHRNA7-DR1|D-10|MGC120482|MGC120483 chrna7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and fam7a (family with sequence similarity 7a, exons a-e) fusion protein-coding 731068 CHRM1 cholinergic receptor, muscarinic 1 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. 734777,1580863 9614217,8139539,9603968,2739737,1411529,3443095,8508928,7925360,18073210,17655760,17540859,17462859,17373692,17272726,16931638,16902941,16877267,16874522,16439611,16406470,16368694,16336219,16328454,15489334,15383745,15280370,15086532,14504414,12851722,12810581,12707929,12694403,12477932,12476323,12049494,11855742,11306684,10336173,10333492,9518684,9303164,8938448,8248499,8190105,8063729,3697105,3037705,2674717,2336407,1905013,1445347,16189514 734777 1128 NM_000738,AP000438,CH471076,X15263,BT007166,X52068,Y00508,AF385587,AF498915,AJ006520,BC007740,BC022984 NP_000729,EAW74124,EAW74125,EAW74126,AAH22984,AAP35830,P11229,Q53XZ3,Q712U2,Q96RH1,ABM81651,ABM83646,ABM86895,CAA33334,CAA36291,CAA68560,AAK68112,AAM18938,CAA07081,AAH07740 Hs.632119 GDB:125213 HM1|M1|MGC30125 protein-coding 733234 CHRM2 cholinergic receptor, muscarinic 2 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. 1358507,1580863 9603968,8139539,2739737,10544184,3037705,3443095,18451336,18316677,17999088,17996044,17890226,17851256,17567401,17552496,17468496,17373692,17335853,17160701,17123299,17081262,16855219,16823639,16818863,16501017,16381901,16368694,16336219,16181410,16000316,15489336,15489334,15379890,15255931,15210286,15086532,14751843,14512373,12825791,12810581,12774299,12694864,12690205,12477932,12381439,12116189,12093817,11855742,11600475,11552008,11306684,11230166,11076863,10952973,10929429,10895079,10336173,9579781,9063897,8576254,8288567,8248499,7797501,7579899,2674717,2249995 1358507 1129 NM_001006627,NM_000739,NM_001006632,NM_001006631,NM_001006626,NM_001006629,NM_001006628,AB041391,AC009264,AC020581,CH236950,CH471070,M16404,X15264,AF385588,AF498916,AK125233,AK290236,AL832585,AY034603,AY034604,AY034605,AY219703,AY219704,AY219705,NM_001006630,AY456125,AY456126,AY456127,AY456128,AY456129,BC095547,BC106741,BC106742 NP_001006631,NP_001006628,NP_000730,NP_001006633,NP_001006632,NP_001006627,NP_001006630,NP_001006629,BAA94476,EAL24054,EAW83865,EAW83866,AAA51570,CAA33335,AAK68113,AAM18939,BAC86092,BAF82925,AAO23567,AAO23568,AAO23569,AAO65595,AAO65596,AAO65597,AAR14890,AAR14891,AAR14892,AAR14893,AAR14894,AAH95547,AAI06742,AAI06743,P08172,Q0JSX0,Q6SL56,Q6SL59,Q6ZUX5,Q86SJ1,Q96RH0,CAL38394 GDB:125214 FLJ43243|HM2|MGC120006|MGC120007 protein-coding 734195 CHRM3 cholinergic receptor, muscarinic 3 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. 1580863,734983 9547368,1905013,10940357,9603968,8063729,2739737,10051746,3443095,18070938,17951979,17890325,17851256,17637176,17513382,17373692,17335853,17192665,17130513,17005862,16710414,16368694,16303743,16113538,15870063,15769745,15725576,15489334,15383626,15280370,15263021,14977875,14702039,14573754,12799371,12694864,12649280,12642833,12477932,12381439,12194018,12126481,11877431,11867338,11856737,11665980,11306684,11238933,10777483,10336173,9740233,8576254,8248499,8016895,7629074,3272174,3037705,2674717 734983 1131 NM_000740,AB041395,AC104460,AF331838,AL356361,AL357499,AL513543,CH471098,CQ782536,U29589,X15266,AF279779,AF385589,AF498917,AK056349,AK074575,BC096844,BC121026,BC121027,BX099030 NP_000731,BAA94480,AAM63959,EAW70076,EAW70077,EAW70078,CAF85818,AAA70337,CAA33337,AAG30036,AAK68114,AAM18940,AAH96844,AAI21027,P20309,Q5VXY3,Q8NG01,Q96RG9 Hs.7138 GDB:125215 HM3 protein-coding 68976 CHRM4 cholinergic receptor, muscarinic 4 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. 1580863 9603968,3443095,2739737,3037705,17373692,15489334,15263021,12505680,12477932,12476323,12048193,11855742,11306684,10737800,10336173,9843378,8576254,8248499,7916637,3272174,2674717,2570410,1577490 1132 NM_000741,AC116021,CH471064,M16405,X15265,AF385590,AF498918,BC095546,BC119775,BC119817,BC137535,BQ322895 NP_000732,EAW68004,AAA51571,CAA33336,AAK68115,AAM18941,AAH95546,AAI19776,AAI19818,AAI37536,P08173,Q96RG8 Hs.248100 GDB:125216 HM4 protein-coding 1350007 CHRM5 cholinergic receptor, muscarinic 5 The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, stimulation of this receptor is known to increase cyclic AMP levels. 1580863 3272174,1905013,8063729,8663391,17951979,17608938,17373692,16877267,15292665,14702039,12675126,12477932,11855742,11306684,10336173,9733718,8576254,8248499,2540186 1133 NM_012125,AC069045,CH471125,M80333,AB084282,AF026263,AF385591,AF498919,AK095198,BC041805,BC068528 NP_036257,EAW92282,EAW92283,AAA51569,BAB91222,AAB95158,AAK68116,AAM18942,AAH41805,AAH68528,P08912,Q6NUM3,Q8IVW0 Hs.584747 GDB:125217 HM5|MGC41838 protein-coding 732599 CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. 704386,1580863 7619526,6688857,9221765,18252226,18179903,17687331,17373692,17082486,17028140,16435141,15079006,12588888,12477932,12015305,10958399,10910772,10195214,9158151,8910344,8872460,8441631,8334706,7902325,7863154,7725386,7695910,7254233,3651795,3338555,2449458,2221824,1712080,1694127,1397297 704386 1134 NM_000079,NM_001039523,AC018890,CH471058,X02502,X17104,X70108,AK291338,BC006314,BC043196,BG828551,S77094,Y00762 NP_000070,NP_001034612,AAY14687,EAX11124,EAX11125,EAX11126,EAX11127,EAX11128,CAA26344,CAA34960,CAA49705,BAF84027,AAH06314,AAD14247,CAA68731,P02708,Q53SH4,Q9BRE6 Hs.434479 GDB:120586 ACHRA|ACHRD|CHRNA|CMS2A|FCCMS|SCCMS protein-coding 735581 CHRNA10 cholinergic receptor, nicotinic, alpha 10 1580863 11350119,17559419,17373692,15531379,11752216 57053 NM_020402,AC060812,AF327367,CH471158,AF199235,AJ278118,AJ295237 NP_065135,AAK14333,EAX02560,AAG00795,CAC20435,CAC16144,Q9GZZ6,AAI52765 Hs.157714 GDB:11504491 protein-coding 735907 CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal) 1580863 8906617,18226955,18165968,17602836,17559419,17373692,16826524,16421571,16344560,15996750,15028279,12783266,12121305,10336173,9193799,8996215,7708749,7570187,1505988 1135 NM_000742,AF311103,CH471080,AW292180,BC153866,CD013901,DA096824,DA407151,U62431,Y16281 NP_000733,EAW63552,AAI53867,AAB40109,CAA76154,Q15822 Hs.57718,Hs.700504 GDB:125218 protein-coding 732613 CHRNA3 cholinergic receptor, nicotinic, alpha 3 1599607,1599610,1580863 8906617,18414406,18385738,18385676,18227835,18163978,17504758,17373692,17344216,16091357,15716100,15681842,15494367,15489334,12912995,12663058,12477932,12214130,11771745,11606319,11450844,11118490,10771001,10336173,10095081,9921897,9804613,9624109,9387186,9009220,8878111,7850023,7490471,2336208,2004777,1989896,1725184,1689727,1572664 1599607,1599610 1136 AJ584709,BC000513,BC001642,BC002996,BC006114,BC098443,BT006646,NM_000743,BT006897,M37981,M86383,U62432,X53559,Y08418,AC027228,AC067863,AJ007783,AJ007784,AJ007785,AJ007786,AJ007787,CH471136,AF385584,AJ584707,AJ584708 CAE48370,CAE48371,AAH00513,AAH01642,AAH02996,AAH06114,AAH98443,AAP35292,AAP35543,AAA59942,AAC84176,AAB40110,CAA37625,CAA69695,P32297,Q4KMN8,Q6EWN2,Q86U77,Q9BRR4,NP_000734,CAA07682,EAW99153,EAW99154,EAW99156,EAW99157,EAW99158,EAW99159,AAK68110,CAE48369 Hs.89605 GDB:125219 MGC104879 protein-coding 10356 CHRNA4 cholinergic receptor, nicotinic, alpha 4 This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. 704405,704387,1580863 8906617,7550350,12189247,18226955,18043764,17981562,17977823,17955458,17948872,17768273,17613539,17590520,17559419,17504247,17488453,17385675,17373692,17226798,16869227,16825297,16636791,16608406,16456787,16407231,16344560,16332175,16205844,16183856,16174636,16091357,16023355,15944128,15902904,15790597,15717291,15154117,15046869,14623738,12887446,12887442,12782394,12781587,12681012,12663058,12565129,12556914,12477932,12214130,12202488,12185808,12121305,11780052,11771745,11409698,11352901,11261808,10563623,9009220,8889548,8833159,7806245,7721089,7647781,2351675,1505988,1492743 704387 1137 NM_000744,AY816234,AY878243,AY878244,CH471077,BC096291,BC096292,BC096293,BM710937,DA530118,L35901,U62433,X87629,X89741,X89742,X89743,X89744,X89745,X89746,Y08421,DQ093071,AK314907,BC096290 NP_000735,AAV66461,AAW81038,AAW81039,EAW75269,AAH96291,AAH96292,AAH96293,AAA64743,AAB40111,CAA60959,CAA61893,CAA69698,P43681,Q4VAQ3,Q4VAQ5,Q4VAQ6,Q5EIU9,Q5EIV0,Q5RLM1,EAW75270,AAY88737,AAH96290 Hs.10734 GDB:128169 BFNC|EBN|EBN1|FLJ95812|NACHR|NACHRA4|NACRA4 protein-coding 734445 CHRNA5 cholinergic receptor, nicotinic, alpha 5 Nicotinic acetylcholine receptors (nAChRs), such as CHRNA5, are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be (hetero)pentamers composed of homologous subunits. See MIM 118508 for additional background information on AChRs.[supplied by OMIM] 1580863 1542648,9009220,18414406,18385738,18385676,18227835,18165968,18163978,17559419,17373692,17135278,15716100,15489334,12783266,12477932,11606319,10679230,9655874,9193799,8906617,2004777,1572664,1505988 1138 NM_000745,AJ306481,AJ306485,CH471136,AF385586,AJ584705,AJ584706,BC033639,BC050469,CR619227,M83712,U62434,Y08419,AC027228 NP_000736,CAC34820,EAW99160,EAW99161,EAW99162,CAE48367,CAE48368,AAH33639,AAA58357,AAB40112,CAA69696,P30532,Q6EWN4,ABM84281,ABM87673,ABW03599 Hs.1614,Hs.625152 GDB:125220 protein-coding 733511 CHRNA6 cholinergic receptor, nicotinic, alpha 6 1580863 8906617,18055561,17373692,17081983,15489334,12537063,12477932,12406580,12150770,8950106 8973 NM_004198,AB079251,AC087533,CH471080,BC014456,U62435,Y16282 NP_004189,BAC06855,EAW63207,AAH14456,AAB40113,CAA76155,Q15825 Hs.103128 GDB:9957987 CHNRA6 protein-coding 736847 CHRNA7 cholinergic receptor, nicotinic, alpha 7 The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. 1300376,1358509,1600992,1580863 10681545,8145738,12508119,10771023,16280133,16754836,12189247,17498763,18393235,18385739,8906617,17573436,17559419,17504249,17493709,17373692,17335853,17291692,17286584,17241116,17192651,17192639,17113175,17015027,17012698,17012261,16837119,16822928,16563701,16461803,16417613,16314871,16307758,15927954,15896732,15857954,15807899,15531077,15504725,15494367,15465084,15292665,15226316,15219869,15100704,15046869,14729237,14582144,14569275,12783266,12781587,12748066,12663058,12626641,12549904,12509811,12477932,12470124,12454998,12431773,12399955,12391028,12214130,12193385,12049804,12020960,18302933,18198266,18078695,18073210,18072279,18071042,18057084,17981562,17978319,17920082,17884806,17709503,11905992,11891309,11891308,11840567,11840317,11829490,11803513,11803512,11771745,11532536,11455129,11424985,11278378,11150893,10336173,10206240,10206225,9782083,9193799,9009220,8996215,8889549,8188270,7571003 1300376,1358509,1600992 1139 NM_000746,AC058803,AC068448,AC079969,AF029837,AF332758,AF385585,AJ586911,AK292069,AY909581,BC037571,BM451308,CR594008,CR620753,L25827,N54079,U40583,U62436,X70297,Y08420,Z23141 NP_000737,AAK19515,AAK68111,CAE52911,BAF84758,AAH37571,AAA83561,AAB40114,CAA49778,CAA69697,CAA80672,P36544,Q5W554,Q8IUZ4 Hs.511772 GDB:138751 NACHRA7 protein-coding 733287 CHRNA9 cholinergic receptor, nicotinic, alpha 9 This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. The protein is additionally expressed in keratinocytes, the pituitary gland, B-cells and T-cells. 1580863 15815621,15531379,15489334,12860975,12697997,12477932,11752216,11076863,11021840 55584 Q9UGM1 AC118275,AY123244,CH471069,AF227732,AJ243342,BC113549,BC113575,NM_017581 NP_060051,AAY40986,AAM74523,EAW92963,AAF61920,CAB65091,AAI13550,AAI13576,Q9UGM1,AAI11596 Hs.272278 GDB:11508646 HSA243342|MGC142109|MGC142135|NACHRA9 acetylcholine receptor alpha 9 subunit (nachr) protein-coding 733898 CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. 704404,1580863 8872460,8651643,18179903,17373692,17015027,16874522,16280586,15489334,12477932,10662545,10562302,2740233,2221824,887246,1397297 1140 NM_000747,AC113189,CH471108,BC011371,BC023553,X14830 NP_000738,EAW90186,AAH11371,AAH23553,CAA32939,P11230,Q8IZ46,ABM85567 Hs.330386 GDB:120587 ACHRB|CHRNB|CMS1D|CMS2A|SCCMS protein-coding 733218 CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. 704404,737782,1580863,737811 8906617,12189247,18226955,18043764,17559419,17385675,17373692,17226798,17192785,16928859,16636791,16407231,16314871,16183856,16174636,16023355,15964197,15944128,15681842,15489334,15154117,15046869,15033200,15026168,12681012,12663058,12477932,12214130,12202488,12185808,11952766,11906688,11771745,11261808,11104662,11062464,11054772,10771020,10441742,9921897,9009220,2377478,1505988,1397297 737782,737811 1141 NM_000748,AF077186,AF174495,AJ001935,AJ001936,AJ001937,AJ001938,AJ001939,AL592078,CH471121,BC075040,BC075041,R40506,U62437,X53179,Y08415 NP_000739,AAD45422,CAA05108,CAI16184,EAW53192,AAH75040,AAH75041,AAB40115,CAA37320,CAA69692,P17787,Q5SXY3 Hs.2306 GDB:125221 EFNL3|nAChRB2 protein-coding 1347400 CHRNB3 cholinergic receptor, nicotinic, beta 3 1580863 7690916,8906617,18055561,17559419,17373692,17158188,17135278,16314871,15489334,12912995,12783266,12477932,11118490,10336173,9624109,9193799,9009220,8088849,7571003,1505988 1142 NM_000749,AC087533,AC090739,AC103843,AF140765,CH471080,BC069681,BC069703,BC069788,U62438,X67513,Y08417 NP_000740,AAD33063,EAW63208,AAH69681,AAH69703,AAH69788,AAB40116,CAA47851,CAA69694,Q05901 Hs.654576 GDB:125222 protein-coding 732764 CHRNB4 cholinergic receptor, nicotinic, beta 4 1580863 16826524,16091357,17373692,15742216,15489334,12912995,12783266,12663058,12477932,12150770,11606319,11450844,11118490,10336173,9693793,9655874,9203638,9193799,9009220,8996215,7571003,2004777,1725184,1689727,1572664,1505988,8906617,11742001,1330682,18414406,18385738,18163978 1143 NM_000750,AC067863,AF306329,AF453877,AJ306454,BC096080,BC096081,BC096082,BC096083,CR617765,U48861,U62439,X68275,Y08416 NP_000741,AAL02062,AAL57840,CAC34819,AAH96080,AAH96081,AAH96082,AAH96083,AAA92123,AAB40117,CAA48336,CAA69693,P30926 Hs.624178 GDB:125223 protein-coding 733359 CHRND cholinergic receptor, nicotinic, delta The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. 704404,1580863 8872460,18252226,18179903,15815621,15489334,14735155,12499478,12477932,11782989,11435464,9668219,8910344,8103404,7695910,2564429,2221824 1144 NM_000751,AC092165,CH471063,AK291526,BC093923,BC093925,CR623061,X55019 NP_000742,AAY24102,EAW71003,BAF84215,AAH93923,AAH93925,CAA38759,Q07001 Hs.156289 GDB:120588 ACHRD|CMS2A|FCCMS|SCCMS protein-coding 734106 CHRNE cholinergic receptor, nicotinic, epsilon Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The achetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. 704404,1580863 8872460,7531341,17363247,17304221,17272341,16527851,16198106,16087917,15652413,15367858,15322984,14981744,14592868,14532324,12562900,12141316,12087176,11030414,10962020,10719961,10534268,10514102,10211467,9158150,8957026,8755487,8232384,7958418,7902325,7688301,7538206,1712080 1145 NM_000080,AB070507,AC109333,AF105999,CH471108,AI041890,X66403 NP_000071,BAB97270,AAD24503,EAW90394,EAW90395,EAW90396,CAA47030,Q04844,Q8N731,AAI56078,AAI57044 Hs.654535 GDB:132246 ACHRE|CMS1D|CMS1E|CMS2A|FCCMS|SCCMS protein-coding 732695 CHRNG cholinergic receptor, nicotinic, gamma For background information on the acetylcholine receptor (AChR), see CHRNA1 (MIM 100690). Two forms of AChR are found in mammalian skeletal muscle cells. The mature form is predominant in innervated adult muscle and the embryonic form is present in fetal and denervated muscle. Embryonic and mature AChR differ by the replacement of the gamma subunit in the pentameric glycoprotein complex by its isoform, the epsilon subunit (MIM 100725), which is specific to the mature AChR subtype. This switch is mediated by ARIA (acetylcholine receptor-inducing activity; MIM 142445).[supplied by OMIM] 704404,1580863 3967651,8040310,16826531,16826520,16435141,15815621,14702039,12477932,7695910,7688301,2630182,1981051 1146 NM_005199,AC092165,CH471063,X01715,X01716,X01717,X01718,X01719,X01720,X01721,X04759,AK125362,BC111802 NP_005190,AAY24103,EAW71004,EAW71005,CAA25861,AAI11803,P07510,Q14DU4 Hs.248101 GDB:120589 ACHRG|MGC133376 protein-coding 1317743 CHST1 carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 1580863 9405439,10330415,17690104,16495484,16189514,15489334,15324304,12477932,11310842,10642612,10528213,10049591,9639683,9117134,8419650,1433500 8534 NM_003654,AC087442,AY339617,CH471064,AB003791,AF090137,BC022567,BC028235,U65637 NP_003645,AAP88041,EAW68034,EAW68035,EAW68036,EAW68037,EAW68038,EAW68039,BAA24840,AAD19878,AAH22567,AAH28235,AAC28776,O43916 Hs.104576 GDB:9865701 C6ST|KS6ST|KSGal6ST protein-coding 1353236 CHST10 carbohydrate sulfotransferase 10 Cell surface carbohydrates modulate a variety of cellular functions and are typically synthesized in a stepwise manner. HNK1ST plays a role in the biosynthesis of HNK1 (see MIM 151290), a neuronally expressed carbohydrate that contains a sulfoglucuronyl residue.[supplied by OMIM] 1580863 9478973,16344560,15489334,12477932,12080076,10464296,9110174,8619474,8419650,1433500 9486 NM_004854,AC012493,CH471127,CS255950,AF003827,AF033827,AF070594,AU124707,BC010441,BU849869,CR593915 NP_004845,AAX93044,EAX01841,EAX01842,EAX01843,EAX01844,CAJ75915,AAC04707,AAC28651,AAH10441,O43529,Q53T18,ABM81990,ABM85171 Hs.516370 HNK-1ST|HNK1ST|MGC17148 protein-coding 1318147 CHST11 carbohydrate (chondroitin 4) sulfotransferase 11 Chondroitin 4-sulfotransferases, such as CHST11, catalyze the transfer of sulfate from 3-prime-phosphoadenosine 5-prime-phosphosulfate to position 4 of N-acetylgalactosamine residues in chondroitin (Yamauchi et al., 2000 [PubMed 10722746]).[supplied by OMIM] 1580863 11056388,15628971,15489334,15324304,15273723,12847091,12477932,10781601,10737800,10722746 50515 NM_018413,AC010191,AC073917,AC079316,AC126473,CH471054,AB042326,AF239820,AJ269537,AJ289134,AK290923,BC013315,CR608680 NP_060883,EAW97748,EAW97749,EAW97750,BAA95485,AAF81691,CAB87380,CAB92134,BAF83612,AAH13315,Q9NPF2 Hs.17569 C4ST|C4ST-1|C4ST1|HSA269537 protein-coding 1317861 CHST12 carbohydrate (chondroitin 4) sulfotransferase 12 Chondroitin 4-sulfotransferases, such as CHST12, add sulfate to position 4 of N-acetylgalactosamine residues in chondroitin (Hiraoka et al., 2000 [PubMed 10781601]).[supplied by OMIM] 1580863 10781601,17353931,15489334,12975309,12847091,12690205,12477932,9373149,8125298 55501 NM_018641,CH236953,AC004840,CH471144,AF239822,AJ289131,AK223191,AK223211,AY358574,BC002918,BC015954,BC095492,CR590921,CR601672,CR610112,CR615984,CR624694 NP_061111,EAL23955,EAW87243,EAW87244,EAW87245,AAF81692,CAB92133,BAD96911,BAD96931,AAQ88937,AAH02918,AAH95492,Q53FS1,Q53FU0,Q9NRB3,ABM83895,ABM87216 Hs.213088 C4S-2|C4ST-2|C4ST2 protein-coding 1347829 CHST13 carbohydrate (chondroitin 4) sulfotransferase 13 C4ST3 transfers sulfate to the C-4 hydroxyl of beta-1,4-linked GalNAc flanked by GlcUA residues in chondroitin (Kang et al., 2002 [PubMed 12080076]).[supplied by OMIM] 1580863 12080076,12477932,10781601 166012 BC039390,BC045257,BC047236,BC103895,BC103896,BC103897,CR622499,NM_152889,AC024558,CH471052,AY120869,BC028283 AAH39390,AAH47236,AAI03896,AAI03897,AAI03898,Q3SYA3,Q3SYA5,Q3ZCR4,Q3ZCU8,Q8NET6,NP_690849,EAW79359,AAM55481 Hs.292375 C4ST3|MGC119278|MGC119279|MGC119281 protein-coding 1348543 CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 737633 11470797,16303743,12975309,12847091,12477932 737633 113189 Q8NCH0 NM_130468,AC013356,CH471125,AB066595,AF282905,AF401222,AK074739,AY358446,BC009883,BC023653,BC049214,BC053633 NP_569735,EAW92419,BAB84097,AAK69530,AAK92532,BAC11172,AAQ88811,AAH23653,AAH49214,AAH53633,Q8NCH0 Hs.442449 D4ST-1|D4ST1|HD4ST|HNK1ST|d4st1 dermatan 4 sulfotransferase 1 protein-coding 1315916 CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 1580863 9722682,11042394,10049591,12855678,16897186,15632306,15489334,15220337,14702039,12501187,12477932,11726653,11310842,11056388,10528213,9712885,8419650,1433500 9435 NM_004267,AB021125,AC018450,CH471052,AB014679,AB014680,AB021124,AF083066,AK023268,BC017499,BC036930,BC042160,BC068604,BC105010,BC105012 NP_004258,BAB16887,EAW78952,EAW78953,BAA34265,BAA34266,BAB16886,AAD20981,AAI05011,AAI05013,Q9Y4C5 Hs.8786 GDB:9956695 C6ST protein-coding 1352183 CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 1600853 9883891,15489334,15215498,12477932,11696535,11056388,9714738,8419650,1433500 1600853 9469 NM_004273,AC022392,AC073370,CH471083,AB012192,AB017915,AK025251,BC033183,BC093690,BC104856 NP_004264,EAW54440,BAA32576,BAA36348,AAH93690,AAI04857,Q7LGC8 Hs.158304 GDB:9958851 C6ST|C6ST1 protein-coding 1321907 CHST4 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 1580863 10330415,12855678,16386360,16303743,15489334,15220337,14702039,12477932,12218059,12107080,11726653,11439191,11310842,11181564,8419650,1433500 10164 NM_005769,AC010547,CH471166,AF131235,AF149783,AF280088,AK026635,AK074746,BC035282 NP_005760,EAW59235,AAD33015,AAK48417,AAG48246,BAC11177,AAH35282,Q8NCG5,ABM83036,ABM86230 Hs.251383 GDB:9955339 LSST protein-coding 1603314 CHST5 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 The carbohydrates of glycoconjugates are highly diverse structures with variation in monosaccharide composition, glycosidic linkage positions, and branching of chains. Further diversity is added by the covalent addition of sulfate moieties to particular hydroxyl groups and amino groups of saccharides. The sulfate modifications of glycoproteins can be extensive in amount and frequently occur at high density. They can have a profound effect on the physiochemical properties of the glycoconjugates, at least in part through the addition of negative charge. Carbohydrate sulfation plays a critical role in many biologic processes. CHST5 belongs to the GST family of sulfotransferases, which also includes CHST1 (MIM 603797), CHST2 (MIM 603798), CHST3 (MIM 603799), and LSST. These enzymes are 6-O-sulfotransferases, which add sulfate to C6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) (Lee et al., 1999 [PubMed 10491328]).[supplied by OMIM] 10491328,12218059,12855678,17690104,14702039,12975309,12626414,12477932,12107080,11352640,11017086,8419650,1433500 23563 CR620108,NM_024533,AC009163,AC025287,AF176839,AF219991,CH471114,AF246718,BC147002,BC147007,BX282540 Q9GZS9,NP_078809,AAD56001,AAG26326,EAW95635,AAG28023,AAI47003,AAI47008 Hs.156784,Hs.710689 GDB:10795420 FLJ22167|I-GlcNAc-6-ST|MGC74625 protein-coding 1342606 CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 1580863 14609920,12883341,12882775,12882769,12824236,12477932,12218059,11818380,11139648,11087716,11017086,10913333,8644739,8419650,1433500,11278593,11352640,11181564,17962390,17896316,17846354,17093400,16568029,16207214,15953452,15652851,15489334,15220337,15013869,14984470,14735064 4166 NM_021615,AC009163,AF219991,CH471114,AF280086,BC036640,BC041645,BC074834,BC074883 NP_067628,AAG26327,EAW95640,EAW95641,AAG48244,AAH74834,AAH74883,Q9GZX3 Hs.655622 GDB:131407 MCDC1 protein-coding 1344494 CHST7 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 This gene belongs to the sulfotransferase gene family. Sulfotransferases generate sulfated glycosaminoglycan (GAG) moities during chondroitin sulfate biosynthesis. They create considerable structural diversity among chondroitin sulfates by transferring sulfate with remarkable specificity for the underlying oligosaccharide substrate. This gene product mainly transfers sulfate to N-acetylgalactosamine. The regulated expression of each member of this gene family may be an important determinant of sulfated GAGs expression and the associated function of chondroitin sulfates as regulators of many biologic processes. This gene is part of a gene cluster on chromosome Xp11.23. 10913333,10781596,16335952,15772651,15489334,12477932,11944989,10956661,8419650,1433500 56548 NM_019886,AL022165,CH471164,AB037187,AB040711,BC023971,BC045537,BQ940898 NP_063939,CAA18154,EAW59267,EAW59268,BAB03217,BAB13770,AAH45537,Q9NS84 Hs.129955 GDB:11500409 C6ST-2 protein-coding 1319067 CHST8 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 Sulfate groups in carbohydrates confer highly specific functions on glycoproteins, glycolipids, and proteoglycans and are critical for cell-cell interaction, signal transduction, and embryonic development. Sulfotransferases, such as CHST8, carry out sulfation of carbohydrates (Hiraoka et al., 2001 [PubMed 11445554]).[supplied by OMIM] 1580863 10988300,11001942,11445554,16079414,15632154,15489334,12477932,8419650,1433500 64377 NM_022467,AC005615,AC007205,AC008994,AC011519,AB047801,AF300612,AF305781,BC011380,BC014250,BC018723,CR622600,CR623005 NP_071912,BAB19806,AAG39444,AAL09373,AAH11380,AAH14250,AAH18723,Q9H2A9,ABM82364,ABM85540 Hs.165724 GDB:11500368 GalNAc4ST protein-coding 1316417 CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 Sulfate groups in carbohydrates confer highly specific functions on glycoproteins, glycolipids, and proteoglycans and are critical for cell-cell interaction, signal transduction, and embryonic development. Sulfotransferases, such as CHST9, carry out sulfation of carbohydrates (Hiraoka et al., 2001 [PubMed 11445554]).[supplied by OMIM] 11139592,11445554,15489334,14702039,12975309,12477932,8419650,1433500 83539 NM_031422,AC010854,AC023575,AC116017,CH471088,AF239821,AF332472,AF332473,AJ707539,AK093349,AY358488,BC025764 NP_113610,EAX01232,EAX01233,EAX01234,AAK01862,AAK30369,AAK30370,BAC04141,AAQ88852,AAH25764,Q7L1S5 Hs.657938 GALNAC4ST-2 protein-coding 1323606 CHSY1 chondroitin sulfate synthase 1 CHSY1 synthesizes chondroitin sulfate, a glycosaminoglycan expressed on the surface of most cells and in extracellular matrices. Glycosaminoglycan chains are covalently linked to a wide range of core protein families and regulate many biologic processes, including cell proliferation and recognition, extracellular matrix deposition, and morphogenesis.[supplied by OMIM] 1580863 16303743,15489334,12975309,12907687,12716890,12477932,11514575,10231032 22856 NM_014918,AC019254,AC023024,CH471101,AB023207,AB071402,AK075096,AY358529,BC046247,CR592549,CR604598 NP_055733,EAX02292,BAA76834,BAB64936,AAQ88893,AAH46247,Q86X52 Hs.110488 GDB:9957195 CSS1|KIAA0990 protein-coding 1603860 CHSY3 chondroitin sulfate synthase 3 CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM] 17253960,17081983,12907687 337876 NM_175856,AC004219,AC005373,AC008426,AC011360,CH471062,AB086062,AB175496,AJ504664,AJ578034,AJ862728,AY726604,BC137325 NP_787052,EAW62379,BAC98832,BAF47165,CAD43233,CAE17326,CAH89316,AAI37326,Q1JTV1,Q70JA7 Hs.213137 CSS3 protein-coding 1321395 CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 1580863 17545166,15302935,14702039,12930902,12766176,12477932,12171929,11486023,11157797 63922 NM_022092,AE006465,AL031033,CH471112,AI650845,AK024476,AK128869,BC006278,BC006437,BC018184,DC410609 Q96S08,Q9BR83,Q9BRG5,Q9H7K3,NP_071375,AAK61256,CAB53056,CAB53057,CAB53058,EAW85704,EAW85705,EAW85706,EAW85707,EAW85708,EAW85709,EAW85710,EAW85711,BAB15766,AAH06278,AAH06437,AAH18184,Q7Z6Y4,Q7Z6Y5,Q7Z6Y6,Q8WVB6 Hs.153850 C16orf41|C321D2.2|C321D2.3|C321D2.4|CHL12|Ctf18|RUVBL protein-coding 1315401 CHUK conserved helix-loop-helix ubiquitous kinase This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. 1580863,2292150,2292172 17439942,17434128,17363973,17363905,17319651,17317777,17272824,17237443,17237434,17237423,17145747,17138672,17102620,17079494,16902410,16733051,16407216,16405428,16280329,16258173,16177806,16034126,15808510,15677466,15489227,15469934,15456791,15226448,15164054,15153339,15140882,15071597,14963024,14743216,14585846,12789342,12771929,12589056,12547194,12477932,12411322,12133833,12048203,11971985,11864612,11815618,11805286,11594795,11527961,11359906,11113112,11002417,9252186,9520446,10747982,9346484,9744859,10485710,10723127,18163512,18071880,17962807,17897950,17823124,17785555,17684021,17616684,17597077,17537731,17507655,17452475,17452332,10968790,10962033,10779355,10755617,10713178,10521409,10469655,10195894,10187861,10072079,9891086,9819420,9813230,9751060,9751059,9632806,9409737,9346241,9244310,8777433,8246997,7558004,17182689,11959143,14585990,14585847,12210728,14499622,12093792,12351658,15994554,15856023,15782119,15845455,9346485,15802604,15494311,15084260 2292150,2292172 1147 AL138921,AY652653,CH471066,AB209028,AF009225,AF012890,AF080157,AL521750,BC034796,BC092514,BM800404,U22512,AL133012,NM_001278 NP_001269,CAH72401,AAT49098,EAW49845,BAD92265,AAC51671,AAC51662,AAD08996,AAH92514,AAC50713,O15111,Q562E6,Q59GT1 Hs.198998 GDB:462411 IKBKA|IKK-alpha|IKK1|IKKA|NFKBIKA|TCF16 protein-coding 1312958 CHURC1 churchill domain containing 1 1580863 17610897,15489334,14702039,14651851,12477932 91612 AL135745,AL139022,CH471061,AF060510,AK057626,AV734503,BC010517,BC020550,BM453839,CR608557,NM_145165 NP_660148,EAW80883,EAW80884,EAW80885,EAW80886,EAW80887,AAG43128,AAH20550,Q8WUH1 Hs.325531 C14orf52|FLJ33064|My015|chch protein-coding 1354495 CIAO1 cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae) 1580863 17353931,9556563,17041588,16189514,15489334,14702039,12477932,10493829,9373149,8125298 9391 NM_004804,AC004020,AC021188,CH471207,AF086118,AI094333,AK056423,AK092687,AK124703,AK223257,BC001395,BC032812,BE220199,BG108391,BI460314,CR456802,CR592447,CR593125,CR605216,EF011618,U63810 NP_004795,AAC23493,EAW71374,EAW71375,BAD96977,AAH01395,AAH32812,CAG33083,ABK41108,AAC24948,O76071,ABW03824,ABW03511 Hs.12109 CIA1|WDR39 wd repeat domain 39 protein-coding 1346049 CIAPIN1 cytokine induced apoptosis inhibitor 1 CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM] 14970183,18389626,18293492,18203020,18059532,17935775,16957168,16410721,16381901,15489336,15489334,12477932,11230166,11076863,10493829,16189514 57019 BC067303,BC071740,CR533545,CR590040,CR591087,CR591925,CR594653,CR596897,CR597162,CR597348,CR600387,CR604417,CR605182,CR605775,CR607816,CR610264,CR613123,CR613398,CR614864,CR618915,CR622197,CR623944,CR624651,CR625926,CR625987,NM_020313,AC004382,AC009052,CH471092,AF116609,AF248964,AK074263,AK292281,AL136613,BC002568,BC024196 AAH24196,AAH67303,AAH71740,CAG38576,Q0JRY8,Q6FI81,CAL38726,NP_064709,AAC24311,AAC24312,EAW82922,EAW82923,EAW82924,AAF71034,AAG44562,BAF84970,CAB66548,AAH02568 Hs.4900 2810413N20Rik|Anamorsin|PRO0915 protein-coding 732228 CIB1 calcium and integrin binding 1 (calmyrin) The protein encoded by this gene is a member of the calcium-binding protein family. The specific function of this protein has not yet been determined; however this protein is known to interact with DNA-dependent protein kinase and may play a role in kinase-phosphatase regulation of DNA end joining. This protein also interacts with integrin alpha(IIb)beta(3), which may implicate this protein as a regulatory molecule for alpha(IIb)beta(3). 1580863 15475008,15231747,10366599,9030514,9372844,12011095,17516631,16825200,16723353,16418530,16061695,15885068,15685448,15574431,15489334,15203218,15190070,14992593,12881299,12714504,12651910,12477932,12023286,11997098,11856312,11756406,11039900,10826701,10822252,10523297,9852683 10519 NM_006384,AB021866,AC091167,CH471101,AA769426,BC000846,CD622547,CR456955,CR604330,CR614655,CR626397,U82226,U83236,U85611 NP_006375,BAA36281,EAX02087,EAX02088,EAX02089,EAX02090,AAH00846,CAG33236,AAC51106,AAB39758,AAB53387,Q99828,ABM82122,ABM85305 Hs.135471 GDB:9957542 CIB|KIP|KIP1|SIP2-28 protein-coding 1318655 CIB2 calcium and integrin binding family member 2 The amino acid sequence the protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. This suggests that the encoded protein may be a Ca2+-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunit (DNA-PKcs). 737633,1580863 9931475,15489334,12477932,10764802,9891849,9630066 737633 10518 NM_006383,AC090260,CH471136,AB012955,BC020443,BC033108,BC047381,BC057292,BE907622,BI523557,BQ681471,BT019962 NP_006374,EAW99183,EAW99184,EAW99185,EAW99186,BAA33584,AAH33108,AAH47381,AAV38765,O75838,Q5TZX7 Hs.129867 KIP2 protein-coding 1312677 CIB3 calcium and integrin binding family member 3 This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. 1580863 15574431,12477932 117286 NM_054113,AC020911,CH471106,AB050868,AW295492,BC069320,BC069428,BC069524,BC112200,BC113591 NP_473454,EAW84533,EAW84534,EAW84535,BAB71789,AAH69320,AAH69428,AAH69524,AAI12201,AAI13592,Q6ISP1,Q6NT26,Q6NT60,Q96Q77 Hs.255432 KIP3|MGC138405|MGC142151|MGC96922 protein-coding 1606728 CIB4 calcium and integrin binding family member 4 15574431 130106 NM_001029881,CH471053,BC127684,BC127685,BC140923,CR598913 NP_001025052,EAX00680,AAI27685,AAI27686,AAI40924,A0PJX0 Hs.591579 KIP4 protein-coding 1321769 CIC capicua homolog (Drosophila) 1580863 16713569,17081983,15981098,15345747,15302935,15057824,12393275,9205841 23152 NM_015125,AC006486,CH471126,AB002304,AF363689,AK025939,CR625274 NP_055940,AAD11988,EAW57119,EAW57120,EAW57121,BAA20765,AAK73515,Q96RK0,AAI40444 Hs.388236 GDB:9785530 KIAA0306 protein-coding 1312942 CIDEA cell death-inducing DFFA-like effector a This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Two alternative transcripts encoding different isoforms have been identified. 1580863,1625390 17080483,9564035,15919794,18328351,18033804,17895319,16186410,14702039,12910269,12477932,10837461 1625390 1149 NM_198289,AP005264,CH471113,EF444967,AA683375,AF041378,AK122762,AY364639,BC031896,BQ718688,R73455,NM_001279 NP_001270,NP_938031,EAX01555,ACA05965,ACA05966,AAC34987,AAQ65241,AAH31896,O60543,Q6UPR7,Q8N5P9 Hs.249129 GDB:9862899 CIDE-A protein-coding 1320650 CIDEB cell death-inducing DFFA-like effector b 1580863 10619428,12429024,16248853,15489334,14702039,12477932,10837461,9564035,12595532 27141 BX418750,CB162472,CR611009,DN997151,NM_014430,AL096870,CH471078,AF190901,AF218586,AF544398,AI242048,AK000387,AK122828,BC035970 Q546V8,Q9UHD4,NP_055245,EAW66031,EAW66032,EAW66033,AAF23324,AAF27658,AAN37907,BAA91132,AAH35970 Hs.642693,Hs.657595 GDB:10795885 protein-coding 1354006 CIDEC cell death-inducing DFFA-like effector c 737633,1580863 12429024,15489334,14702039,12477932 737633 63924 NM_022094,AC018809,CH471055,AF303893,AK024524,AK024530,AY364638,AY364640,BC006266,BC016851,BC043599 NP_071377,EAW64011,EAW64012,EAW64013,EAW64014,AAN32612,BAB14920,BAB14922,AAR23106,AAQ65242,AAH06266,AAH16851,AAH43599,Q7Z6N6,Q86XG0,Q96AQ7 Hs.567562,Hs.635072 CIDE-3|FLJ20871|Fsp27 protein-coding 1626563 CIDECP cell death-inducing DFFA-like effector c pseudogene 12477932 152302 NR_002786,NG_007311,AC022007,AC034193,AF279614,BC069255,BC090925 Hs.635072 CICE pseudo 1347347 CIDX combined immunodeficiency, X-linked 1150 GDB:127736 1348941 CIITA class II, major histocompatibility complex, transactivator This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. 1600188,1580863 8402893,16600381,7749984,14528304,18398440,18245089,18226342,18209080,17956914,17919972,17875550,17711409,17678724,17661914,17623662,17620097,17611194,17300840,17183695,17133579,17075826,17012290,16996793,16920747,16849401,16776848,16426246,16254053,15964851,15950283,15897313,15876426,15771576,15788405,15682480,15528357,15467734,15326139,15247301,15247294,15242870,15210796,15162420,15100295,14973505,14563641,14525769,12933903,12919287,12884309,12883198,12859996,12748124,12517958,12477932,12391224,12391222,12374747,12355430,12218128,12077331,12072194,12052885,11981818,11978778,11953317,11862382,11857059,11792431,11777970,11774613,11514574,11466404,11463838,11416140,11118314,11046145,11003667,10661406,10644363,10501838,10464099,9551976,9184229,9177217,9177216,9099848,9039770,8717517,8537130,1008718,1007865,15502823 1600188 4261 AC133065,AF000003,CH471112,NM_000246,U94773,AF410154,AY084054,AY084055,AY699071,BE247223,BM193016,U18259,U18288,U31931,X74301 AAB92363,EAW85168,EAW85169,NP_000237,EAW85170,EAW85171,EAW85172,EAW85173,EAW85174,AAC39714,AAL04118,AAM15723,AAM15724,AAU06586,AAA88861,AAA88862,AAA92364,CAA52354,P33076,Q29675,Q29704,Q66X48,Q6LC19,Q71VQ4,Q8SNB7,Q8SNB8,Q96KL4 Hs.701991 GDB:6268475 C2TA|CIITAIV|MHC2TA|NLRA mhc class ii transactivator protein-coding 1353261 CILD2 ciliary dyskinesia, primary 2 10745040 56162 GDB:11505786 1312971 CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. The synthesis of cartilage intermediate layer protein (CILP), which was identified and purified from human articular cartilage, increases in early osteoarthrosis cartilage. The C-terminal 460 amino acids of the protein show 90% similarity to the pig ectonucleotide pyrophosphohydrolase NTPPHase; this region is preceded by a furin protease consensus cleavage site. Thus, the CILP gene is thought to encode a protein precursor for 2 different proteins, namely CILP and a homolog of NTPPHase. 1625347,1580863 12746903,9722583,9722584,17220213,16453284,16413503,15864306,15489334,15378262,14962958,12975309,12483726,12477932,11315923,10601732,10319588,9373149,8125298 1625347 8483 AB022430,AC068213,NM_003613,AF035455,CH471082,AF035408,AK225652,AK225926,AL602624,AY358904,BC035776 NP_003604,BAA76692,AAF14689,EAW77717,AAC33838,AAQ89263,AAH35776,O75339,ABM82198,ABM85386 Hs.442180 GDB:9955251 HsT18872 protein-coding 1322465 CILP2 cartilage intermediate layer protein 2 737633,1580863 12746903,18193044,16344560,15489334,12477932 737633 148113 AF542080,AK127735,BC018939,BC034926,BC068256,DA328640,CH471106,NM_153221,AC011448 EAW84833,AAN17826,AAH18939,AAH34926,Q8IUL8,EAW84832,NP_694953 Hs.279574 CLIP-2|MGC45771 protein-coding 1602222 CINP cyclin-dependent kinase 2-interacting protein The function of this gene has not been reported. This gene contains a trinucleotide (ctt) repeat length polymorphism; alleles with either one or two repeat units have been identified. 16189514,16082200,14702039,12477932 51550 NM_032630,AL137229,CH471061,AF228148,AF228149,AK056112,BC000600,BX248279,CR457178,CR592942,CR593168,CR600690,CR623828 NP_116019,EAW81785,EAW81786,AAF44747,AAF44748,BAB71095,AAH00600,CAD62607,CAG33459,Q86TU0,Q9BW66 Hs.129634 MGC849 protein-coding 1603945 CIP29 cytokine induced protein 29 kDa 14667819,11356193,17196963,15635413,15489334,15338056,15284855,15048984,12477932,11922608,11790298,11042152,9373149,8125298,16189514 84324 NM_033082,AC023055,AC073487,AJ409089,CH471054,AF161434,AF486281,AK222719,AK290508,BC007099,BC016941,BC093051,CR593273,CR610192 NP_149073,CAC37950,EAW96838,AAF28994,AAM09686,BAF83197,AAH07099,AAH93051,P82979,Q53H62,Q567R9,Q9C062,ABZ92475 Hs.505676 HCC-1|HCC1|HSPC316|MGC14726 protein-coding 1602899 CIR CBF1 interacting corepressor 9874765,15652350,17081983,15815621,15489334,12477932,11591653,11509665,11222720,10644367,3031469,11000236 9541 AC018470,CH471058,AF098297,AK292389,BC015040,BC021175,BC031018,BC038987,BC046098,BU596189,NM_004882,CR593259,CR599038,CR601497,CR611416,U03644 NP_004873,AAY24216,EAX11144,EAX11145,EAX11146,AAD05243,BAF85078,AAH15040,AAH21175,AAH31018,AAH38987,AAH46098,AAA17853,Q86X95 Hs.632531 GDB:9959010 protein-coding 1343841 CIRBP cold inducible RNA binding protein 1580863 9151692,17353931,16713569,16189514,15489334,15342556,15075239,15057824,14702039,12819390,12477932,11850402,9434172,9422546,9334257 1153 AK094781,AK095781,AK128423,AL133636,BC000403,BC000901,BI819825,BP195090,BT007210,CR592824,CR593654,CR597422,CR601118,CR601213,CR602241,CR606464,CR612156,CR612930,CR613900,CR613916,CR615208,CR616652,CR618584,CR618838,CR624441,CR625198,CX785176,D78134,NM_001280,NR_023312,NR_023313,AC004258,CH471139,AF021336 BAC87434,AAH00403,AAH00901,AAP35874,BAA11212,Q14011,Q53XX5,Q6ZR81,ABW03670,ABW03323,NP_001271,AAC04895,EAW69520,EAW69521,EAW69522,EAW69523,EAW69524,EAW69525,AAC51787 Hs.634522 GDB:6874934 CIRP protein-coding 1322745 CIRH1A cirrhosis, autosomal recessive 1A (cirhin) This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. 1600653 16225863,16344560,15768832,15635413,15489334,14702039,12477932,12429849,12417987,11853319,11045837,10820129,8703127 1600653 84916 NM_032830,AC009027,AC009131,CH471092,AB075868,AK027419,AK027445,AK027584,AK027634,AK027675,AK074795,AK310104,BC000167,BC009348,BX647265,CA430627,DA277545 NP_116219,EAW83251,EAW83252,EAW83253,EAW83254,EAW83255,EAW83256,EAW83257,BAB85574,BAB55100,BAB55116,BAB55212,BAB55251,BAB55287,BAC11214,AAH00167,AAH09348,Q969X6 Hs.461113 GDB:10796164 CIRHIN|FLJ14728|FLJ17146|KIAA1988|NAIC|TEX292 protein-coding 1319915 CISD1 CDGSH iron sulfur domain 1 CISD1 is a member of the CDGSH domain-containing family and may play a role in the regulation of mitochondrial oxidative capacity (Wiley et al., 2007, 2007 [PubMed 17376863] [PubMed 17584744]).[supplied by OMIM] 737633 18047834,17905743,17766440,17766439,17584744,17376863,16344560,15489334,12477932 737633 55847 NM_018464,AC016396,CH471083,AF220049,AI025360,AY960578,BC005962,BC007043,BC008474,BC059168,DA417986 NP_060934,EAW54162,EAW54163,EAW54164,EAW54165,EAW54166,AAF67642,AAY32336,AAH05962,AAH07043,AAH08474,AAH59168,Q1X902,Q9NZ45 Hs.370102,Hs.596912 C10orf70|MDS029|MGC14684|ZCD1|mitoNEET protein-coding 1605581 CISD1B CDGSH iron sulfur domain 1B pseudogene 130500 NG_005172,AC013400 ZCD1B pseudo 1603794 CISD2 CDGSH iron sulfur domain 2 11256614,17846994,17584744,17376863,16381901,16344560,15489336,12477932,11230166,11076863 493856 NM_001008388,AF213884,CH471057,AA424361,AI277147,AK292134,BC020831,BC032300,BX537971,CR598535,CR605697,CR617516,CR618210,DB351048,DB565768,DN993861 NP_001008389,EAX06148,EAX06149,BAF84823,AAH32300,CAD97935,Q8N5K1,CAL37687,CAL38263 Hs.556638 ERIS|Miner1|WFS2|ZCD2 protein-coding 1626692 CISD3 CDGSH iron sulfur domain 3 CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM] 17584744,17376863,14702039 284106 XM_001718346,XM_001716624,XM_001714917,AC006449,AK097047,AK098433,BC062294,CR621383 XP_001718398,XP_001716676,XP_001714969 Hs.462923 Miner2 protein-coding 735426 CISH cytokine inducible SH2-containing protein The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. 1580863 10902923,9465889,17666591,16684815,15489334,15470047,15231748,14707129,14630083,12648219,12618484,12586763,12477932,12077274,12076535,11713228,11032736,10969179,10517496,10514520,9774439,7796808,16189514 1154 NM_145071,AC096920,AF035946,CH471055,Z77852,AF035947,AF132297,BC031590,BC064354,BF511692,CR594144,CR602225,D83532 NP_659508,AAQ13420,EAW65127,EAW65128,EAW65129,EAW65130,AAF97410,AAD28471,AAH31590,AAH64354,BAA92328,Q71V34,Q9NSE2 Hs.655334 GDB:3925655 CIS|CIS-1|G18|SOCS protein-coding 731048 CIT citron (rho-interacting, serine/threonine kinase 21) 1580863,734780 9792683,11086988,17534152,17081983,16565220,16541075,16431929,15983625,15122253,14702039,12506198,12477932,12411428,10862698,10231032,9870942,8543060,12773565 734780 11113 NM_007174,AC002563,AC004813,AC079317,CH471054,AB023166,AK123136,AY209000,AY257469,AY681966,BC008127,BC047647 NP_009105,AAB71327,EAW98155,EAW98156,EAW98157,EAW98158,BAA76793,AAP43922,AAP13528,AAV87216,O14578,Q2M5E1,AAI56530 Hs.119594 GDB:9956827 CRIK|KIAA0949|STK21 protein-coding 1344879 CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 1580863 8901575,9434189,17710162,16864582,15489334,12477932,11744733,11581164,11443112,11310794,10722728,10644012,9721210,9707553,9683535 4435 NM_004143,AL135749,CH471213,BC004240,CR597324,U65092 NP_004134,EAW71818,EAW71819,EAW71820,AAH04240,Q99966,ABM83910,ABM87231,AAC51113 Hs.40403 GDB:9836123 MSG1 protein-coding 734120 CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 634741,1581188,734781,1580863 10552932,16287139,9434189,18054336,17932483,16675452,16341674,15489334,15051727,14633989,12960175,12586840,12477932,11744733,10593900,9887100,9811838,8901575,12762840 634741,1581188,734781 10370 NM_006079,AF129290,AL592429,CH471051,AF109161,BC004377,BM763150,CR607406,CR615989,U65093 NP_006070,AAF01263,AAF01264,CAH70354,EAW47891,EAW47892,EAW47893,EAW47894,EAW47895,AAD10055,AAH04377,AAC51114,Q99967,ABM84222,ABM87730 Hs.82071 GDB:9958835 MRG1|P35SRJ protein-coding 1354399 CITED4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4 CITED4 belongs to a family of transcriptional coactivators that bind several proteins, including CREB-binding protein (MIM 600140) and p300 (MIM 602700).[supplied by OMIM] 634742,1580863 17311001,15572674,15489334,15342390,12477932,11744733 634742 163732 NM_133467,AC119677,AF362074,AF466291,CH471059,BC035496,BC052559 NP_597724,AAK64235,AAL73989,EAX07195,AAH35496,AAH52559,Q96RK1 Hs.355820 GDB:11505788 protein-coding 1313304 CIZ1 CDKN1A interacting zinc finger protein 1 1580863 10529385,18081865,17508423,17108141,17081983,15585571,14702039,12824700,12477932,10369878 25792 AL590708,CH471090,Y17452,Y17453,Y17454,NM_012127,AB030835,AF159025,AF234161,AK023978,AK027287,AK292713,BC004119,BC021163 NP_036259,CAI13828,CAI13829,CAI13830,CAI13831,CAI13832,CAI13833,CAI13834,CAI13835,EAW87752,EAW87753,EAW87754,EAW87755,EAW87756,EAW87757,EAW87758,CAB44345,CAB44346,CAB44347,BAA85783,AAF23231,AAF37882,BAB14750,BAB55017,BAF85402,AAH04119,AAH21163,Q5SYW2,Q5SYW3,Q5SYW4,Q5SYW5,Q5SYW9,Q5SYX4,Q8WU72,Q96KB7,Q9BTG3,Q9H868,Q9ULV3,Q9Y3F8 Hs.212395 LSFR1|NP94|ZNF356 protein-coding 1323189 CKAP2 cytoskeleton associated protein 2 CKAP2 is a cytoskeleton-associated protein involved in mitotic progression (Seki and Fang, 2007 [PubMed 17376772]).[supplied by OMIM] 17376772,17339342,16876122,16565220,15489334,15324660,15057823,14702039,12942315,12500535,12477932,11234418,11230166,11149944,9771967 26586 Y15758,NM_018204,AJ429398,AL359513,CH471274,AB064212,AF177227,AK001611,AK022982,AK027103,AK096227,AL136848,AY062261,AY062262,BC010901,BC066920,BC105806,BC130296,BM541375,CR591745,CR607908,DB512858,EF560732,NM_001098525 CAC17466,Q8N8T2,Q8WWK9,NP_001091995,NP_060674,CAD22295,CAH71660,CAH71661,EAW55889,EAW55890,BAC01840,AAG33675,BAA91788,BAB14345,BAC04731,CAB66782,AAL47212,AAL47213,AAH10901,AAI05807,AAI30297,ABQ59042 Hs.444028,Hs.706302,Hs.711762 GDB:10795421 DKFZp686L1238|FLJ10749|LB1|TMAP|se20-10 protein-coding 1602064 CKAP2L cytoskeleton associated protein 2-like 16344560,14702039,12477932,10737800 150468 NM_152515,AC079922,AC112235,CH471217,AK097948,AK292530,AL832036,BC036217,BF742811,DA506407 NP_689728,AAY14923,AAX93053,EAW73602,EAW73603,BAC05202,BAF85219,AAH36217,Q8IYA6 Hs.434250 FLJ40629|MGC39683 protein-coding 1323735 CKAP4 cytoskeleton-associated protein 4 1580863 8314870,18333895,17975794,17030514,16546853,16398404,15703217,15623521,15489334,12913003,12477932,11402071,9373149,8566419,8125298,7673362,1730740 10970 XM_001128142,NM_006825,AC079174,CH471054,AK123693,AK223563,BC015436,BC025341,BC037578,BC067357,BC082972,BC094824,CR626523,X69910 XP_001128142,NP_006816,EAW97770,EAW97771,EAW97772,EAW97773,BAD97283,AAH25341,AAH67357,AAH82972,AAH94824,CAA49535,Q07065,Q6NWZ1,Q8TB01 Hs.74368 GDB:9959060 CLIMP-63|ERGIC-63|MGC99554|p63 protein-coding 1605408 CKAP5 cytoskeleton associated protein 5 14603251,15703215,14718566,17376965,15302935,14702039,12569123,12477932,11903063,8889548,8536682,7788527,12421765 9793 BM980015,BU661430,CR623748,D43948,X92474,NM_014756,NM_001008938,AC021573,AC115088,CH471064,AW504660,BC017856,BC035554,BC070136,BC111043,BC120869,BC120870 BAA07892,CAA63212,Q0VAX7,Q05D70,Q0VAX8,Q14008,Q2TA89,Q6NSH4,Q8IYN5,Q8NAH3,NP_055571,NP_001008938,EAW67976,AAH17856,AAH35554,AAH70136,AAI11044,AAI20870,AAI20871 Hs.201253 CHTOG|FLJ35359|KIAA0097|MSPS|TOG|TOGp|ch-TOG protein-coding 730974 CKB creatine kinase, brain The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. 1598441,1300048,1580863 3034271,10893433,16981706,17036164,16424007,16384981,16189514,15996648,15489334,12477932,12160938,12039490,9748661,9365161,8889548,8186255,7808454,7057800,6998544,6846432,3899413,3692484,3514665,2914937,2883200,2828370,2792236,2771648,1840537,1602151,1117316,466791 1598441 1152 NM_001823,AL133367,CH471061,DQ333313,M21236,M21243,M22354,M22356,X15334,AK290101,BC001190,BC004914,BC008323,BC010002,BC019259,BC019281,BG720434,BM684665,CR542268,CR592666,CR593337,CR594482,CR595016,CR598157,CR599533,CR602332,CR602935,CR604078,CR604286,CR604715,CR608393,CR609423,CR612287,CR614187,CR614656,CR617409,CR618341,CR618535,CR618596,CR618760,CR619605,CR620989,CR622478,CR625533,L47647,M16364,M16451 NP_001814,EAW81820,EAW81821,EAW81822,ABC67465,AAC31758,AAA52024,CAA33389,BAF82790,AAH01190,AAH04914,AAH08323,AAH10002,AAH19259,AAH19281,CAG47064,AAA76852,AAA76850,AAA76851,P12277,Q6FG40 Hs.173724 GDB:120590 B-CK|CKBB protein-coding 1345512 CKBE creatine kinase, ectopic expression 1156 GDB:119058 1604069 CKBP1 creatine kinase B pseudogene 1 2883200,1676982 1157 NG_001535,AC007225,M60806 GDB:136046 pseudo 1606001 CKLF chemokine-like factor The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. 11415443,16344560,15489334,14672709,12975309,12477932,12411060,12183067,11478515,11042152 51192 NM_001040138,NM_016951,NM_181641,NM_181640,NM_016326,AC010542,AY665769,CH471092,AA234074,AF057306,AF096895,AF135380,AF135381,AF145216,AF151058,AK290307,AY358999,BC004380,BC091478,CR600254,DA804889 NP_001035228,NP_058647,NP_857592,NP_857591,NP_057410,AAT70694,EAW83019,EAW83020,EAW83021,EAW83022,AAF21255,AAF06722,AAF19599,AAF19600,AAF19350,AAF36144,BAF82996,AAQ89358,AAH04380,AAH91478,Q5BJH6,Q9UBR5,ABM84314,ABM87707 Hs.15159,Hs.710181 C32|CKLF1|CKLF2|CKLF3|CKLF4|HSPC224|UCK-1 protein-coding 737472 CKM creatine kinase, muscle The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. 1598441,1300048,1580863,1359082 3778496,10893433,16981706,17885020,17478608,17303563,17000714,16810680,16373479,16289162,16120572,16092153,16087811,16079652,16037885,15504039,15489334,12972258,15057824,12477932,12432079,12039490,11922612,10089465,9748661,8524781,7808454,7805577,7057800,3031982,2914937,2903158,2331374,2309701,1690725,16189514 1598441,1359082 1158 NM_001824,AC005781,AY585238,CH471126,M21487,M21494,AK129878,BC007462,BT006793,CR601202,M14780,M16440 NP_001815,AAC62841,AAS79321,EAW57337,AAA96609,AAH07462,AAP35439,AAA52025,AAA52026,P06732,ABM92156,ABM84627 Hs.334347 GDB:120591 CKMM|M-CK protein-coding 1603442 CKMT1A creatine kinase, mitochondrial 1A Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. 2914937,10893433,17028143,15489334,12477932,12401781,11874479,11768757,11602586,10748055,10737943,9746319,9373149,8923416,8125298,7896282,7808456,7525559,6584077,3400641,2324105 548596 NM_001015001,NG_005156,AC011330,AK223365,BC001926,BC006467,BM923431,BT006628,CR597545,CR599511,CR599868,CR605038,CR618017 NP_001015001,BAD97085,AAH01926,AAH06467,AAP35274,P12532 Hs.425633,Hs.654988 CKMT1|UMTCK protein-coding 1345536 CKMT1B creatine kinase, mitochondrial 1B Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. 1580863 7525559,6584077,3400641,2914937,2324105,16189514,16952984,16166745,15489334,14702039,12477932,12401781,11874479,11768757,11602586,10748055,10737943,9746319,9373149,8923416,8889548,8692275,8125298,7896282,7808456 1159 NM_020990,NG_005156,AC011330,J04469,AK094322,BC108652,BC121001,BC121002,BI118196,BU674851,CR616544 NP_066270,AAA98744,AAI08653,AAI21002,AAI21003,P12532,ABM84311,ABM87704 Hs.425633 GDB:119780 CKMT|CKMT1|UMTCK protein-coding 1343148 CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. 1580863 2324105,10893433,17289898,16344560,16169070,16020522,15489334,15044463,14702039,12477932,12401781,11874479,11768757,10748055,10674997,10462222,9746319,9312135,8276398,7808456,2914937,1917943,16189514 1160 NM_001825,NM_001099735,AC020901,AC026436,CH471084,AK122769,AW300490,BC029140,CR450315,DA826840,DB479765,DC308656,J05401,NM_001099736 NP_001093206,NP_001816,NP_001093205,EAW95865,EAW95866,EAW95867,AAH29140,CAG29311,AAA60561,P17540,ABM81707,ABW03302 Hs.80691 GDB:134408 SMTCK protein-coding 1348442 CKS1A CDC28 protein kinase regulatory subunit 1A pseudogene 17499794,15014502,8697818 137529 NG_001577,AC022598 GDB:11510310 CKS1 pseudo 1344929 CKS1B CDC28 protein kinase regulatory subunit 1B CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. 9276444,12813041,2227411,8601310,17464290,17377499,17303695,16979657,16924241,16209941,16188652,16168119,15772084,15579456,15489334,15014502,12529174,12477932,12473461,12140288,11231585,8697818,7791211,16189514 1163 NM_001826,AL451085,CH471121,AF274941,AF274943,AF279897,BC007751,BC015629,BC070319,BC070320,BT007196,CR595346,CR607335,X54941 NP_001817,CAI13255,CAI13256,CAI13257,EAW53160,EAW53161,EAW53162,EAW53163,EAW53164,EAW53165,EAW53166,AAK07518,AAK07520,AAK07553,AAH07751,AAH15629,AAH70319,AAH70320,AAP35860,CAA38702,P61024,Q5T178,Q9BZU3,ABM81626,ABM83898,ABM84810,ABM86884,ABW03287,ABW03288 Hs.374378 GDB:730625 CKS1|PNAS-16|PNAS-18|ckshs1 protein-coding 1350804 CKS1BP CDC28 protein kinase regulatory subunit 1B pseudogene 317780 NG_002475,AL355102 pseudo 1348595 CKS1BP2 CDC28 protein kinase regulatory subunit 1B pseudogene 2 246714 NG_001578,AL159170 bA192N10.2 pseudo 1352719 CKS1BP3 CDC28 protein kinase regulatory subunit 1B pseudogene 3 246715 NG_001579,AC008917,AC114982 pseudo 1348782 CKS2 CDC28 protein kinase regulatory subunit 2 CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. 1580863 15504738,8211159,2227411,17388661,17336302,16189514,16169070,15489334,12477932,8697818,15989971 1164 NM_001827,AF506708,AL160054,CH471089,CS185526,BC006458,BC020345,BT006630,CR407630,CR542118,CR601576,CR621720,X54942 NP_001818,AAM22232,CAI41365,EAW62762,CAJ42707,AAH06458,AAP35276,CAG28558,CAG46915,CAA38703,P33552,Q6FGI9,Q6LET5 Hs.83758 GDB:730868 CKSHS2 protein-coding 1352289 CLA1 cerebellar ataxia 1 (autosomal recessive) 4838888,10528257 1165 GDB:119781 1349113 CLA2 cerebellar ataxia 2 (X-linked) 1166 GDB:119782 1350268 CLA3 cerebellar ataxia 3 (cerebellar parenchyma disorder 1) 1167 GDB:128453 1346967 CLAM cerebellar atrophy with progressive microcephaly 12771259 373073 1322173 CLASP1 cytoplasmic linker associated protein 1 CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM] 1580863 10899121,9734811,17353931,12837247,15631994,17342765,15928712,16866869,16914514,11290329,16824950,16145243,16000324,15815621,15489334,15324660,15302935,14702039,14504462,12477932 23332 NM_015282,AC012447,AC013399,AC018737,AC079449,CH471103,AB014522,AF347693,AJ288057,AK074338,AK091140,AK123216,AY425956,BC032563,BC112940,BC132723,BX648523,BX648933,CR619630,CR749627,CR933722 NP_056097,AAX88872,EAW95252,EAW95253,EAW95254,EAW95255,BAA31597,AAQ15051,CAC35156,AAR07949,AAH32563,AAI12941,AAI32724,CAH18421,CAI46251,Q68D09,Q6TAR3,Q7Z460 Hs.469840 GDB:9955916 DKFZp686D1968|DKFZp686H2039|FLJ33821|FLJ41222|KIAA0622|MAST1|MGC131895 protein-coding 733933 CLASP2 cytoplasmic linker associated protein 2 1580863 11290329,15928712,12837247,16914514,16866869,16824950,15955847,15631994,15489334,15207236,14702039,12477932,10899121,9734811,17353931 23122 AJ288059,AK024770,AK090716,AK091451,AL137636,BC011530,BC029035,BC140778,BX640725,CR602185,DQ200868,DQ200869,NM_015097,AC093114,AC113170,AC132515,CH471055,AB014527 CAC35158,BAB14995,BAC03667,CAB70852,AAH11530,AAH29035,AAI40779,CAE45842,ABB13628,ABB13629,O75122,Q07A19,Q07A20,Q6N029,Q8NB74,Q96F87,NP_055912,EAW64459,EAW64460,EAW64461,EAW64462,EAW64463,EAW64464,EAW64465,EAW64466,EAW64467,BAA31602 Hs.696092 GDB:9955020 clip-associating protein 2 protein-coding 1345540 CLC Charcot-Leyden crystal protein Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. 1580863 8400237,17502455,17166282,16457599,16015083,15489334,15057824,12714580,12477932,12031912,10529229,9119387,8747464,8419478,6511787,6173432,3221396,2709814,2160563,2160562,1577491,1373430,942977 1178 NM_001828,AC005393,AC006133,CH471126,L01665,U68398,BC119711,BC119712,L01664 NP_001819,AAC28912,EAW56914,AAC37530,AAC51157,AAI19712,AAI19713,AAA36190,Q05315 Hs.889 GDB:127998 LGALS10|LPPL_HUMAN|MGC149659 protein-coding 1314775 CLCA1 CLCA family member 1, chloride channel regulator This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. 1580863 17698377,17898169,17621552,17426222,16470849,16465045,16344560,16148052,16023076,15919655,15490240,15318163,14985398,14702039,14512419,12568493,12408984,12110680,11994272,11842292,11071307,10737800,10617765,10437792,9828122,10758170 1179 NM_001285,AF039401,AL122002,CH471097,AA508854,AF039400,AF127036,AK024970,AK097057,AK291999,AK314375,AW361520,AW750670,DA428844 NP_001276,AAC95429,EAW73186,AAC95428,AAD25487,BAF84688,BAG37002,AAI41452,AAI56806 Hs.194659 GDB:9848664 CACC|CACC1|CLCRG1|FLJ95147|GOB5 protein-coding 1312594 CLCA2 CLCA family member 2, chloride channel regulator The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Since this protein is expressed predominantly in trachea and lung, it is suggested to play a role in the complex pathogenesis of cystic fibrosis. It may also serve as adhesion molecule for lung metastatic cancer cells, mediating vascular arrest and colonization, and furthermore, it has been implicated to act as a tumor suppressor gene for breast cancer. 16873362,16158324,15707651,14512419,12612194,12477932,12110680,11320086,11262615,11149902,11071307,10737800,10584316,10554024,10437792,10362588,10758170 9635 NM_006536,AC119749,AF114429,CH471097,CS223381,AB026833,AF043977,AF127980,AK290348,AK307937,BC041096,BE062109 NP_006527,AAF21968,EAW73187,CAJ46930,BAA77810,AAD40367,AAD48397,BAF83037,AAH41096,Q9UQC9 Hs.241551 GDB:9864800 CACC|CACC3|CLCRG2|CaCC-3|FLJ97885 protein-coding 1352211 CLCA3 chloride channel, calcium activated, family member 3 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. However, this gene product is a truncated, structurally divergent member of this family and it does not function as a channel protein. This gene has two ORFs but only one of these is of biologic significance and expressed as a secreted 37-kD glycoprotein which corresponds to the N-terminal extracellular domain of other family members. The exact function of this protein is not known. 1580863 10095065,17360969,11071307,10584316,10758170 9629 AL356270,NM_004921,AF043976 NP_004912,AAD23734,Q5T5J7,Q9Y6N3,AAI40328,AAI46528 Hs.673847 GDB:9865705 protein-coding 1351138 CLCA4 chloride channel, calcium activated, family member 4 The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. The exact function of this protein is not known. 1580863 10437792,16344560,15490240,12975309,12477932,11071307,10758170 22802 DA761219,NM_012128,AL122002,CH471097,AF127035,AK000072,AK000138,AY358470,BC113687,BC113689 Q14CN2,Q6UX81,Q9NXP1,Q9UNF7,NP_036260,EAW73184,EAW73185,AAD48398,BAA90969,AAQ88834,AAI13688,AAI13690 Hs.567422 GDB:9957135 CaCC|CaCC2|MGC142247|MGC142249 protein-coding 1604384 CLCC1 chloride channel CLIC-like 1 16344560,15342556,14702039,12477932,11279057,9872452 23155 NM_001048210,AL160171,AL392088,AL449266,AL591719,CH471122,CS265768,AB018304,AB052915,AB052916,NM_015127,AB052917,AB052918,AK090563,BC002939,BP282246,CR606058,CR622878,DA247339 NP_055942,NP_001041675,CAI14362,CAI14363,CAI14364,CAI14365,CAI14366,EAW56345,EAW56346,EAW56347,EAW56348,EAW56349,CAJ78403,BAA34481,BAB59018,BAB79261,BAB79262,BAB79263,AAH02939,Q96S66,ABM83625,ABM86867 Hs.658489 KIAA0761|MCLC|RP11-475E11.6 protein-coding 1606817 CLCF1 cardiotrophin-like cytokine factor 1 CLCF1 belongs to the interleukin-6 (IL6; MIM 147620) family of cytokines, which are involved in cell signaling through phosphorylation of gp130 (IL6ST; MIM 600694). IL6 family members share similarity in gene structure and have a 4-helix bundle in their protein structure.[supplied by OMIM] 10500198,14632778,10448081,17436251,16782820,15489334,12639901,12477932,11294841,11285233,10966616 23529 NM_013246,AF176912,AP003419,CH471076,AF172854,AF176911,AY049779,BC012939,BC066229,BC066230,BC066231,BM846622,CR592369 ABM82451,ABM85641,NP_037378,AAF00992,EAW74601,EAW74602,AAD54284,AAF00991,AAL15436,AAH12939,AAH66229,AAH66230,AAH66231,Q9UBD9 Hs.502977 BSF3|CISS2|CLC|NNT1|NR6 protein-coding 734112 CLCN1 chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). 704389,1580863 9122265,1379744,18337730,18263754,18227271,18220014,18035046,17998485,17990293,17826470,17693413,17664348,17107341,17097617,16854622,16567465,16321142,16027167,15786415,15623702,15311340,15241802,14718533,14564431,12853948,12691663,12661046,12477932,12150906,12150905,11933197,11840191,11113225,11076863,10720929,10690989,10215406,10198195,9736777,9566422,8845168,8741388,8571958,8533761,8301644,8112288,7981750,7981681,7951242,7874130,7735894,7581380,3983641,14657503 704389 1180 NM_000083,AC073342,AC093673,CH236959,CH471198,L08263,Z25587,Z25752,Z25753,Z25757,Z25760,Z25762,Z25768,Z25872,AY103154,AY103155,BC112156,BC113495,M97820,Z25884 NP_000074,AAS07500,EAL23786,EAW51858,EAW51859,CAA80996,CAB56792,CAB56814,AAI12157,AAI13496,CAA81103,P35523,Q2M202,Q75L28,AAI11587 Hs.121483 GDB:134688 CLC1|MGC138361|MGC142055 protein-coding 733366 CLCN2 chloride channel 2 704390,704404,1580863 16932951,16469788,16049054,15508929,15507145,15505175,15489334,15464978,15388342,15272009,15252188,15010473,12843258,12612585,12601004,12477932,11976342,11880269,11306429,10888596,10198195,7795595,17882904,17762171,17580110 704390 1181 NM_004366,AC078797,CH471052,S77770,AF026004,BC021578,BC072004,BX089717,DB533341,DC403930 NP_004357,EAW78248,EAW78249,EAW78250,AAB34722,AAB88807,AAH21578,AAH72004,P51788,Q6IPA9 Hs.436847 GDB:270664 CIC-2|CLC2|ECA3|EGI3|EGMA protein-coding 730986 CLCN3 chloride channel 3 734783,1580863 17869465,16522634,16381901,16033995,15596438,15489336,15073168,12843258,12842831,12477932,12183454,11967229,11306429,11274166,11230166,11076863,10198195,9843494,9678416,9521585,12471024,7665160,18077605,17977943,17976378,17908687,17882904 734783 1182 NM_173872,NM_001829,AC084724,AC106878,CH471056,AB019542,AF029346,AF086418,AF172729,AK127483,BC026256,BC054877,BX647119,CR593231,X78520 NP_776297,NP_001820,EAX04782,EAX04783,EAX04784,EAX04785,EAX04786,BAC54560,AAB95161,AAD51034,AAH54877,CAA55280,CAA55281,P51790,Q0JUI2,Q7Z4M4,CAL37829,AAI46698 Hs.481186 GDB:270665 CLC3|ClC-3 protein-coding 1342594 CLCN4 chloride channel 4 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. 1580863 8069296,10564087,17023393,16176272,16129671,16034421,15342556,15057754,12477932,10198195,9373149,9110174,8661129,8619474,8125298,7759088 1183 NM_001830,AC002364,AC003666,AC121345,CH471074,AB019432,AF052117,AF170492,AK225287,AK289564,BC036068,BC130278,BP310547,X77197 NP_001821,AAC83175,EAW98777,EAW98778,BAA77327,AAD50981,BAF82253,AAH36068,AAI30279,CAA54417,P51793,Q4G0X3,Q75N13 Hs.495674 GDB:270666 CLC4|ClC-4|ClC-4A|MGC163150 protein-coding 733029 CLCN5 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease) This gene encodes a member of the ClC family of chloride ion channels and ion transporters. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. 1302221,704404,628538,1580863 8559248,18025833,18019214,17262170,17195847,16822791,16807762,16686597,16034421,15772651,15719255,15702377,15692680,15571186,15489223,15086899,14702039,14675051,14569459,13679301,12904289,12886045,12637640,12631358,12631345,12477932,10198195,9931332,9653142,9602200,9259268,9187673,9169421,9062355,8575751,8111383,8099916,7874126,7753256 1302221,628538 1184 NG_007159,AL663118,CH471180,AK025562,AK056560,AK092049,AK290940,BC051691,BC130429,BC130431,BK000969,BX950885,X81836,X91906,NM_000084 NP_000075,CAI41555,EAW89929,BAF83629,AAI30430,AAI30432,DAA01544,CAA57430,CAA63000,P51795,Q7RTN8 Hs.166486 GDB:270667,GDB:433705 CLC5|CLCK2|DENTS|NPHL1|NPHL2|XLRH|XRN|hCIC-K2|hClC-K2 protein-coding 1313372 CLCN6 chloride channel 6 The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 6 and 7 belong to a subbranch of this family. Chloride channel 6 has four different alternatively spliced transcript variants. This gene is in close vicinity to two other kidney-specific chloride channel genes, CLCNKA and CLCNKB. 8543009,9224655,16710414,16344560,15489334,12477932,12370778,12168954,11306429,10500249,10198195,9565675,7584044 1185 NM_001286,NM_021736,NM_021735,NM_021737,AF009257,AF398930,AL021155,AL953897,CH471130,X99472,AK289999,BC050457,BC117420,BC117424,D28475,DA935587,X83378,X96391,X99473,X99474,X99475,DA229615 NP_001277,NP_068504,NP_068503,NP_068505,AAB69287,AAN40862,CAI23401,CAI23402,CAI23403,CAI23404,CAI23405,CAI23406,CAI15890,CAI15891,CAI15892,CAI15893,CAI15894,CAI15895,EAW71710,EAW71711,EAW71712,EAW71713,EAW71714,EAW71715,EAW71716,CAA67835,BAF82688,AAI17421,AAI17425,BAA05836,CAA58292,CAA65255,CAA67836,CAA67837,CAA67838,P51797,Q5SNW4,Q8IZX0 Hs.193043 GDB:3929143 CLC-6|KIAA0046 protein-coding 731480 CLCN7 chloride channel 7 The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. 1600865,737783,704404,1580863 17164308,17081983,16368748,16234969,15692563,15489334,15111300,14702039,14584882,12929941,12522560,12477932,12082624,11741829,11207362,11157797,10084593,9565675,8617505,8573024,8543009 1600865,737783 1186 Z67743,NM_001114331,NG_007567,AE006467,AJ001910,AL031600,AL031705,CH471112,AF224741,AI684019,AK056551,AK096963,AK122944,AK128285,AK130196,AK291404,AK292136,BC004946,BC006158,BC012737,BC015235,BC109196,CR604762,CR613527,U88844,NM_001287 AAB48530,CAA91556,P51798,Q2VPA2,Q4VXY0,Q96RY8,Q9BRN4,Q9BSM4,ABM87432,ABW03889,NP_001278,NP_001107803,AAK61282,CAA05083,CAB53065,EAW85653,EAW85654,EAW85655,AAF34711,BAF84093,BAF84825,AAH04946,AAH06158,AAH12737,AAI09197 Hs.459649 GDB:3929156 CLC-7|CLC7|FLJ26686|FLJ39644|FLJ46423|OPTA2|OPTB4 protein-coding 68651 CLCNKA chloride channel Ka This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. 1300296,1300378,1580863 8041726,18094726,9373149,9046241,8812470,8544406,8125298,17652939,17562318,17510212,17081983,16849430,15489334,15044642,12477932,11734858 1300296,1300378 1187 NM_004070,NM_001042704,AL355994,CH471167,U93878,AK225550,AK290814,BC035373,BC048282,BC053869,Z30643 NP_004061,NP_001036169,CAI16137,CAI16138,EAW51763,AAB65148,BAF83503,AAH48282,AAH53869,CAA83120,P51800,Q5T5P8,Q5T5Q4 Hs.591533 GDB:698471 CLCK1|ClC-K1|MGC61490|hClC-Ka protein-coding 736095 CLCNKB chloride channel Kb Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter Syndrome. CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney. 1600683,1600684,1300379,1580863 16344560,16003175,15671602,8041726,9326936,18094726,17997379,17652939,17622951,17510212,17143181,17137217,16902263,16849430,16391491,15531551,15148291,15044642,14702039,14675050,14502078,12477932,12472765,11865110,11734858,11102542,10906158,8812470,8544406 1600683,1600684,1300379 1188 NM_000085,AL355994,CH471167,U93879,AK098217,AK292335,BC020873,BC033806,DA623867,DA624942,DA628551,S80315,Z30644 NP_000076,CAI16140,CAI16141,CAI16142,EAW51764,EAW51765,EAW51766,AAB65149,BAF85024,AAH20873,AAB35898,CAA83121,P51801,Q5T5Q7,Q5T5Q8,Q8WW53 Hs.352243 GDB:698472 CLCKB|ClC-K2|MGC24087|hClC-Kb protein-coding 1350902 CLCP1 Charcot-Leyden crystal protein pseudogene 1 266626 NG_002369,AC004019 GDB:11510541 pseudo 68626 CLDN1 claudin 1 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in neonatal ichthyosis-sclerosing cholangitis syndrome. 634856,1580863 9647647,18337570,18234789,18211898,18204077,18095941,17970035,17941058,17784784,17644758,17611630,17585317,17440968,17418912,17359339,17325668,17283368,17047970,16253248,16232121,15965503,15820559,15743508,15547692,15521008,15489334,15260435,15070779,14515355,12975309,12909588,12736707,12477932,12475568,12231346,12164927,12067061,12021270,11939410,11889141,11689568,11382769,11283726,11247307,11071387,10828592,10690502,10601346,10562289,9931503,9892664,16697675,16189514 634856 9076 NM_021101,AC009520,AF260403,AF260406,CH471052,AA484795,AF086514,AF101051,AF114837,AF115546,AF134160,AY358652,BC012471,CR457138,EF564137 NP_066924,AAK20945,EAW78107,EAW78108,AAD16433,AAP97236,AAD22962,AAF61393,AAQ89015,AAH12471,CAG33419,ABQ42705,O95832,Q7Z4X9,ABM82383,ABM87822 Hs.439060 GDB:9954838 CLD1|ILVASC|SEMP1 protein-coding 1317558 CLDN10 claudin 10 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Two alternatively spliced transcript variants that encode different isoforms have been identified for this gene. 1580863 10508613,18025272,15701840,15489334,14702039,12477932,12475568,12231346,12067061,11991713,11283726,11247307,10690502 9071 NM_182848,NM_006984,AL139376,AL357061,AL627382,CH471085,AF339794,AK055855,BC010920,BG697724,BU930613,CR456845,U89916 NP_878268,NP_008915,CAH71596,CAH71597,CAH71598,EAX08955,BAB71030,AAH10920,CAG33126,AAC79506,P78369,Q5W075,Q6IBF9,Q96N78,ABM83757,ABM87076 Hs.534377,Hs.656580 GDB:9954833 CPETRL3|OSP-L protein-coding 732844 CLDN11 claudin 11 (oligodendrocyte transmembrane protein) The protein encoded by this gene belongs to the claudin family of tight junction associated proteins and is a major component of central nervous system myelin that is necessary for normal CNS function. There is growing evidence that the protein determines the permeability between layers of myelin sheaths via focal adhesion and, with its expression highly regulated during development, may play an important role in cellular proliferation and migration. In addition, the protein is a candidate autoantigen in the development of autoimmune demyelinating disease. 1580863 15489334,12730962,12477932,12475568,12231346,11591653,11309411,11283726,11247307,10797530,10700007,10690502,10612400,10582615,8797478,8661061 5010 NM_005602,AJ245901,AJ245902,BC013577,BT019402,BT019403,CR595007,AC008041,CH471052 NP_005593,EAW78509,CAB55487,AAH13577,AAV38209,AAV38210,O75508,ABM81906,ABM85079,EAW78505,EAW78506,EAW78507,EAW78508 Hs.31595 GDB:3890885 OSP|OTM protein-coding 1343629 CLDN11CL claudin 11 C-terminal like 404198 1314174 CLDN12 claudin 12 1580863 17047970,16381901,15489336,15489334,15068973,14698084,12853948,12690205,12477932,12475568,12231346,12067061,11912246,11585919,11283726,11247307,11230166,11076863,10690502 9069 NM_012129,AC006153,AJ250713,CH236949,CH471091,AL136770,BC036754,BC068532,CR533470 NP_036261,AAP22363,CAB60617,EAL24163,EAW76876,EAW76877,CAB66704,AAH36754,AAH68532,CAG38501,P56749,Q6FIF6,Q7LDZ0,CAL37593 Hs.258576 GDB:9954830 protein-coding 1319353 CLDN14 claudin 14 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. Two transcript variants encoding the same protein have been found for this gene. 1600866,1600867,1580863 7644498,16780588,15880785,15769849,15489334,12975309,12791041,12477932,12475568,12231346,11283726,11247307,11163249,10830953,10690502 1600867 23562 NM_144492,NM_012130,AJ132445,AP000695,AP001726,CH471079,AF314090,AJ566765,AJ566766,AY355348,AY355349,AY358533,BC012126 NP_652763,NP_036262,CAA10669,BAA95509,EAX09740,AAG60052,CAD97762,CAD97763,AAR05858,AAR05859,AAQ88897,AAH12126,O95500,ABM83144,ABM83172,ABM86340 Hs.660278,Hs.669909 GDB:10795369 DFNB29 protein-coding 1321720 CLDN15 claudin 15 1580863 14702039,13129853,12477932,12475568,12231346,12055082,11912246,11283726,11247307,11095601,10690502 24146 NM_014343,AC006329,CH471197,AJ245738,AK056103,AK124705,BC010160 NP_055158,EAW50210,EAW50211,CAB52587,BAC85930,AAH10160,P56746,Q6ZVD2,Q96FX9 Hs.38738 GDB:10795371 FLJ42715|MGC19536 protein-coding 1351544 CLDN16 claudin 16 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. 1599615,1599616,1580863 10390358,18003771,17551748,16924549,16528408,16234325,15489334,14628289,12477932,12475568,12231346,11518780,11283726,11247307,10878661,10690502,668721 1599615,1599616 10686 NM_006580,AC009520,CH471052,AF152101,BC069662,BC069682,BC069759,BC069777,BF034334,DQ305102 NP_006571,EAW78106,AAD43096,AAH69662,AAH69682,AAH69759,AAH69777,ABC47832,Q9Y5I7 Hs.251391 GDB:9958141 HOMG3|PCLN1 protein-coding 1316669 CLDN17 claudin 17 1580863 16780588,15489334,12975309,12736707,12477932,12475568,12231346,12067061,11283726,11247307,10830953,10690502 26285 NM_012131,AJ250712,AP000884,AP001707,CH471079,AY358094,BC101503,BC101505 NP_036263,CAB60616,BAA95566,EAX09904,AAQ88461,AAI01504,AAI01506,P56750 Hs.258589 GDB:9992896 MGC126552|MGC126554 protein-coding 1351425 CLDN18 claudin 18 CLDN18 belongs to the large claudin family of proteins, which form tight junction strands in epithelial cells (Niimi et al., 2001 [PubMed 11585919]).[supplied by OMIM] 1580863 18223320,18032479,17932229,17459057,16341674,12975309,12477932,12475568,12231346,11585919,11283726,11247307,10690502 51208 NM_001002026,NM_016369,AC016252,CH471052,AF221069,AF349452,AK098474,AY102073,AY358479,BC063845,BC142708,BC146668,BM785703 NP_001002026,NP_057453,EAW79092,EAW79093,EAW79094,AAF26448,AAL15637,AAQ88843,AAI42709,AAI46669,P56856 Hs.655324 GDB:10796025 protein-coding 1312766 CLDN19 claudin 19 Claudins, such as CLDN19, are transmembrane proteins found at tight junctions. Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells (Lee et al., 2006 [PubMed 16427635]). These dynamic microstructures are involved in several major cellular functions: they construct a 'fence' that generates cell polarity by separating apical and basolateral cell domains; they form trafficking and signaling platforms involved in the regulation of growth, proliferation, and differentiation of cells; and they serve as a regulatory barrier ('gate') that separates fluid compartments of different compositions (e.g., in the kidney, intestine, and brain).[supplied by OMIM] 1580863 16427635,17033971,15489334,14702039,12477932,12475568,12231346,11283726,11247307,10690502 149461 CH471059,CS223385,AF497644,AK056118,AK096063,AK291197,BC030524,CR606681,NM_148960,AC098484 EAX07146,EAX07147,CAJ46932,AAQ07256,BAC04691,BAF83886,AAH30524,Q5QT57,Q8N6F1,NP_683763 Hs.496270 GDB:10796165 protein-coding 1352349 CLDN2 claudin 2 Members of the claudin protein family, such as CLDN2, are expressed in an organ-specific manner and regulate the tissue-specific physiologic properties of tight junctions (Sakaguchi et al., 2002 [PubMed 11934881]).[supplied by OMIM] 634856,1580863 11283726,11247307,10690502,10601346,9892664,9647647,18366005,18198187,17970035,17640674,17418912,17314274,17283368,17103306,16328347,16303743,16189514,15772651,15498874,15489334,15389642,15070779,14751232,12975309,12700140,12477932,12475568,12231346,11934881 634856 9075 NM_020384,AL158821,AL591849,CH471120,CS051165,AF177340,AF250558,AK075371,AK075405,AY358474,BC014424,BC071747 NP_065117,CAD23055,EAX02730,EAX02731,EAX02732,CAI72078,AAG17984,AAF98151,BAC11575,AAQ88838,AAH14424,AAH71747,P57739,ABM83142,ABM86338 Hs.522746 GDB:9954837 protein-coding 1343820 CLDN20 claudin 20 1580863 15489334,14574404,12477932,12475568,12231346,11283726,11247307,10690502,1124737 49861 NM_001001346,AL139101,CH471051,BC020838 NP_001001346,CAI20505,EAW47691,AAH20838,P56880 Hs.567491 GDB:10796167 protein-coding 1345716 CLDN21 claudin 21 53843 XM_210581 GDB:10796286 1349320 CLDN22 claudin 22 1580863 15815621,14702039,12736707,12475568,12231346,11283726,11247307,10690502 53842 XM_926796,XM_001723535,XM_940253,NM_001111319,AC093844,CH471056,AK098064 XP_931889,XP_001723587,XP_945346,NP_001104789,EAX04693,BAC05225,Q8N7P3 Hs.333179,Hs.607066 GDB:10796288 protein-coding 1319100 CLDN23 claudin 23 1580863 18154640,15489334,12736707,12477932,11181995,8895530 137075 NM_194284,AC087269,CH471157,AK123547,BC016047,BC125148,BC125149,Z36835 NP_919260,EAW65564,BAC85642,AAH16047,AAI25149,AAI25150,Q6ZW63,Q96B33 Hs.183617 CLDNL|hCG1646163 protein-coding 68632 CLDN3 claudin 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. 634856,1580863 9334247,15174142,18251778,17647191,17545541,17459057,17418912,17326053,17103306,16627685,16341674,16287068,16253248,15905176,15743508,15489334,15240533,15070779,12909588,12853948,12736707,12477932,12475568,12231346,11691807,11382769,11283726,11247307,10690502,10601346,10562289,9892664,9441748,16189514 634856 1365 NM_001306,AC093168,AF007189,CH471200,CQ947188,AB000714,BC009083,BC016056,BM764277 NP_001297,AAS07555,AAC78277,EAW69641,CAI29151,BAA22986,AAH16056,O15551,Q75L79,ABM83137,ABW03471 Hs.647023 GDB:9478584 C7orf1|CPE-R2|CPETR2|HRVP1|RVP1 protein-coding 1317413 CLDN4 claudin 4 This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight junction strands and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. 634856,1580863 9334247,9892664,18283635,18251778,17962811,17709988,17678893,17651017,17545541,17459057,17418912,17359339,17326053,16969486,16949040,16714763,16439986,16287068,16253248,16236711,15862967,15743508,15643498,15489334,15366421,15070779,14702039,14559813,12853948,12736707,12700140,12477932,12475568,12231346,11283726,11247307,10690502,10601346,9878248,9087440 634856 1364 CR617768,CR618234,CR618408,CR620422,CR621460,CR622785,CR624917,NM_001305,AC093168,CH471200,CQ947190,AB000712,AK026651,AK124076,AK126315,AK126462,BC000671,BM768799,BT006989,CR591780,CR592497,CR594243,CR597578,CR598165,CR599105,CR600329,CR601702,CR603209,CR605164,CR606460,CR607477,CR609134,CR609493,CR612437,CR613489,CR613588,CR613719,CR614074,CR615421,CR616166,CR616350,CR616406,CR616848 O14493,Q75L80,NP_001296,AAS07556,EAW69639,CAI29152,BAA22984,AAH00671,AAP35635 Hs.647036,Hs.699253 GDB:9836133 CPE-R|CPER|CPETR|CPETR1|WBSCR8|hCPE-R protein-coding 68644 CLDN5 claudin 5 (transmembrane protein deleted in velocardiofacial syndrome) This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. 1358511,1580863 9192844,18065521,17765294,17761522,17585317,17103306,16959372,16514648,16181776,16158492,15820333,15617864,15489334,15461802,15363474,15260435,14702039,14515355,12909588,12743111,12734665,12477932,12475568,12403818,12231346,11944085,11283726,11247307,10690502,10601346,9892664,9441748,9373149,8125298,16697675 1358511 7122 NM_003277,AC000082,CH471176,AF000959,AK092561,AK124019,AK222466,BC002404,BC019290,BC032363,BT007254,CB993999,CR456420,CR609826,CR616127,CR626038 NP_003268,EAX03034,EAX03035,AAC51364,BAD96186,AAH02404,AAH19290,AAH32363,AAP35918,CAG30306,O00501,Q53HW4,CAK54412,CAK54711 Hs.505337 GDB:5912685 AWAL|BEC1|CPETRL1|TMVCF claudin 5 protein-coding 1318839 CLDN6 claudin 6 634856,1580863 17804490,16303743,15541721,15489334,15454572,15366020,15146197,12975309,12749857,12736707,12896909,12477932,12475568,12231346,12110008,12060405,11923212,11912246,11668606,11283726,11247307,10690502,10601346,10508865,9892664 634856 9074 NM_021195,AC108134,AJ249735,CH471112,CS051119,AF125306,AK075329,AY358480,BC008934,BT007399,BX444798,CN420342,CR614114 NP_067018,CAB56533,EAW85431,EAW85432,CAI72055,AAK02013,AAQ88844,AAH08934,AAP36063,P56747 Hs.533779 GDB:9954836 protein-coding 68646 CLDN7 claudin 7 Claudins, such as CLDN7, are involved in the formation of tight junctions between epithelial cells. Tight junctions restrict lateral diffusion of lipids and membrane proteins, and thereby physically define the border between the apical and basolateral compartments of epithelial cells (Zheng et al., 2003 [PubMed 14502431]).[supplied by OMIM] 634856,1580863 9892664,18357381,18349130,17962811,17922590,17611659,17579117,17418912,17103306,17060315,16341674,16189514,16054130,16049341,15790437,15489334,15475928,14502431,12742348,12673207,12477932,12475568,12231346,11283726,11247307,10690502,10601346,9441748,9373149,8125298,16368003 634856 1366 NM_001307,AC003688,CH471108,AF093823,AJ011497,AK225418,BC001055,BC071844,BM818537,BT006829,CR594337,CR607084,CR611223 NP_001298,EAW90228,EAW90229,AAP97219,CAA09626,AAH01055,AAH71844,AAP35475,O95471 Hs.513915 GDB:9862905 CEPTRL2|CPETRL2|Hs.84359|claudin-1 protein-coding 1318427 CLDN8 claudin 8 Claudins, such as CLDN8, are components of epithelial cell tight junctions. Tight junctions regulate movement of solutes and ions through the paracellular space and prevent mixing of proteins and lipids in the outer leaflet of the apical and basolateral plasma membrane domains (Acharya et al., 2004).[supplied by OMIM] 634856,1580863 16780588,17047970,15489334,14702039,12975309,12736707,12477932,12475568,12231346,12067061,11283726,11247307,10830953,10690502,10601346,9892664,9373149,8125298 634856 9073 NM_199328,AJ250711,AP000884,AP001707,CH471079,CS072416,AK022269,AK223512,AL049977,AY358707,BC020866,BC058004 NP_955360,CAB60615,BAA95567,EAX09901,EAX09902,CAI93554,BAD97232,AAQ89070,AAH20866,AAH58004,P56748,ABM82928,ABM86118 Hs.162209 GDB:9954835 protein-coding 1319096 CLDN9 claudin 9 1580863 17804490,15489334,14702039,14698084,12742348,12736707,12477932,12475568,12231346,11912246,11283726,11247307,11095601,10690502,9441748 9080 NM_020982,AC004643,AC108134,AJ130941,CH471112,CQ947192,AI791760,AK091002,BC051870,BC065830,CD105948 NP_066192,CAA10254,EAW85433,CAI29153,AAH51870,AAH65830,O95484 Hs.296949 GDB:9954841 protein-coding 1349033 CLDND1 claudin domain containing 1 17316888,16303743,15489334,12975309,12477932,12036590,11042152,10022985 56650 NM_001040200,NM_001040181,NM_001040183,NM_019895,NM_001040182,AC021660,CH471052,AA811441,AF161522,AJ270952,AK075367,AL080097,AW449183,AY359121,BC001757,NM_001040199,BC013610,BC022551,BC095441,BF967477,BI552824,BU784186,CD520771,CR591642,CR595974,CR599414,CR600404,CR613750,DB461184,DB465920,EB386420 NP_001035289,NP_001035290,NP_001035271,NP_001035273,NP_063948,NP_001035272,EAW79856,EAW79857,EAW79858,EAW79859,EAW79860,AAF29137,CAB89684,CAB45709,AAQ89479,AAH01757,AAH13610,AAH22551,AAH95441,Q9NY35 Hs.531371,Hs.709386 GDB:11504786 C3orf4|GENX-3745|MGC111162|MGC3316|MGC9861 chromosome 3 open reading frame 4 protein-coding 1604242 CLDND2 claudin domain containing 2 15489334,12477932 125875 NM_152353,NG_007115,AC008750,CH471135,BC029518 NP_689566,EAW72005,AAH29518,Q8NHS1,ABM81894,ABM85068 Hs.348531 MGC33839 protein-coding 1603407 CLEC10A C-type lectin domain family 10, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. 8598452,15489334,12477932,8889548 10462 NM_006344,NM_182906,AC120057,CH471108,AK291975,AK292363,AL546075,BC027858,BC039011,BI910082,BM974488,BU687211,CR620226,D50532 NP_006335,NP_878910,EAW90265,EAW90266,EAW90267,BAF84664,BAF85052,AAH27858,AAH39011,BAA09101,Q8IUN9 Hs.54403 CD301|CLECSF13|CLECSF14|HML|HML2 protein-coding 1604062 CLEC11A C-type lectin domain family 11, member A This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. 11920266,9705843,9442024,15489334,15234225,14746805,12900775,12477932,11803813,10807776,10198175,9207134,3304620 6320 AC010325,AF087658,CH471135,AB009244,AF020044,AY870345,BC005810,BQ014793,BT019673,BU615665,CR606484,CR608691,D86586,NM_002975 NP_002966,AAD26533,EAW71895,EAW71896,EAW71897,BAA32404,AAC39569,AAX62798,AAH05810,AAV38479,BAA21499,A0AUH1,Q5U0B9,Q9Y240 Hs.512680 GDB:9032959 CLECSF3|LSLCL|P47|SCGF protein-coding 1605851 CLEC12A C-type lectin domain family 12, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. 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. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. 17609428,16838277,16239426,15548716,15238421,14739280,12945048,12477932,10508765 160364 NM_201623,AC091814,CH471094,NM_138337,AF247788,AY426759,AY498550,AY498551,AY498552,AY547296,BC027967,BC063424,BC126289,BC126291,BE242761,BQ017053,CD642076 NP_963917,NP_612210,EAW96132,EAW96133,AAL95693,AAR84594,AAS00605,AAS00606,AAS00607,AAT11783,AAH63424,AAI26290,AAI26292,Q5QGZ9 Hs.190519 CLL-1|CLL1|DCAL-2|MGC70602|MICL protein-coding 1605796 CLEC12B C-type lectin domain family 12, member B 17562706,12975309,12477932 387837 NM_205852,AC024224,CH471094,AK128243,AY358810,BC036036,BC136805,DQ368812 NP_995324,EAW96135,EAW96136,EAW96137,EAW96138,BAC87350,AAQ89170,AAI36806,ABC96323,Q2HXU8 Hs.127937 UNQ5782 protein-coding 1603556 CLEC14A C-type lectin domain family 14, member A 15489334,15340161,12975309,12508121,12477932 161198 BX248017,CR594082,NM_175060,AL161751,CH471078,AF161403,AY358395,AY573061,AY606132,BC031567 AAH31567,CAD62342,Q86T13,Q9P096,NP_778230,EAW65835,AAF28963,AAQ88761,AAS77882,AAT92280 Hs.525307 C14orf27|CEG1 protein-coding 1604037 CLEC16A C-type lectin domain family 16, member A 17632545,15489334,14702039,12477932,12168954,9205841 23274 NM_015226,AC007014,AC007220,AC133065,CH471112,AB002348,AK125825,AK126771,BC009721,BC112897,CR618391 NP_056041,EAW85164,EAW85165,BAA20807,BAC86681,AAI12898,Q2KHT3 Hs.35490 Gop-1|KIAA0350|MGC111457 protein-coding 1343742 CLEC1A C-type lectin domain family 1, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. Alternative splice variants have been described but their biological nature has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 10671229,16303743,15489334,14702039,12975309,12945048,12477932,11745369,10508765 51267 CR619172,NM_016511,AC024224,CH471094,AF200949,AK075114,AK091989,AK291584,AY358587,BC039072,BC067746,BM920364,BQ722745,CR591145,CR591231,CR598502,CR604680,CR606141,CR614400 Q8NC01,ABM83366,ABM86577,NP_057595,EAW96140,EAW96141,EAW96142,EAW96143,AAF36830,BAC11410,BAF84273,AAQ88950,AAH39072,AAH67746 Hs.29549 CLEC1|MGC34328 protein-coding 1346944 CLEC1B C-type lectin domain family 1, member B Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells.[supplied by OMIM] 10671229,18215137,17616532,17132623,16940507,16541075,16511244,16174766,15489334,12975309,12477932,11745369,16189514 51266 BX647321,NM_001099431,NM_016509,AC091814,CH471094,AF124841,AY358599,BC029554 AAH29554,Q9P126,NP_001092901,NP_057593,EAW96134,AAF36777,AAQ88962 Hs.409794 1810061I13Rik|CLEC2|CLEC2B|PRO1384|QDED721 protein-coding 1348681 CLEC2A C-type lectin domain family 2, member A 12975309 387836 NM_207375,AY359126 1604835 CLEC2B C-type lectin domain family 2, member B This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 9038101,15489334,12945048,12477932,10783260,10508765,10072769,8889548 9976 NM_005127,AC007068,AC091814,CH471094,AB015628,AL550908,AY142147,BC005254,BG503026,BG540007,BG779377,BM973072,CA447397,CB160326,CR604988,X96719 NP_005118,EAW96127,EAW96128,BAA76495,CAA65480,Q92478,ABM83435,ABM86649,AAH05254,AAN46677 Hs.85201 GDB:9865739 AICL|CLECSF2|HP10085|IFNRG1 protein-coding 1349023 CLEC2D C-type lectin domain family 2, member D This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified, but the full-length nature of every transcript has not been defined. 10541800,18465072,16339513,16339512,15123656,15104121,14990792,14753741,12858173,12477932 29121 NM_013269,AC007068,AC010186,AY144606,CH471094,NM_001004419,AF133299,AF285087,AF285088,AF285089,BC019883,BC063128,CB958277,CR598820 NP_001004419,NP_037401,AAN59996,EAW96114,EAW96115,EAW96116,EAW96117,EAW96118,EAW96119,AAF22159,AAG00514,AAG00515,AAG00516,AAH19883,Q9UHP7 Hs.268326 CLAX|LLT1|OCIL c-type lectin superfamily 2, member d protein-coding 1351189 CLEC2L C-type lectin domain family 2, member L 14702039,11181995,17353931 154790 NM_001080511,AC005531,CH236950,CH471070,AK057548 NP_001073980,EAW83922,EAW83923 Hs.57806 FLJ32986 protein-coding 1604398 CLEC3A C-type lectin domain family 3, member A 10524194,16344560,15489334,12975309,12477932 10143 NM_005752,AC079414,AF077345,CH471114,AI927004,AY358376,BC104414,BC104415,DA998903 NP_005743,AAD12542,EAW95592,EAW95593,AAQ88742,AAI04415,AAI04416,O75596,Q3SX92 Hs.177936 GDB:9865737 CLECSF1|MGC129558|MGC129559 protein-coding 1602501 CLEC3B C-type lectin domain family 3, member B 1625347 16189514,17353931,1354271,7798325,14718574,16453284,15848710,15489334,12694198,12477932,11962752,10964919,10727405,10614823,9757090,9256258,9154122,8418471,3427041,3009181,2533389,2298916,1511740 1625347 7123 NM_003278,AC104165,CH471055,X70910,X70911,X70912,X98121,BC011024,BI837909,CR541981,CR542009,CR595857,CR601488,CR749292,X64559 NP_003269,EAW64735,EAW64736,CAA50265,CAA66803,AAH11024,CAG46778,CAG46806,CAH18147,CAA45860,P05452,Q68DS3,Q6FGX6 Hs.476092 GDB:135032 DKFZp686H17246|TN|TNA protein-coding 1352867 CLEC4A C-type lectin domain family 4, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 10438934,18258799,17665455,16360206,15489334,14550269,12945048,12477932,11994513,11178971,10508765 50856 NM_016184,NM_194450,NM_194447,NM_194448,AC006511,AC092111,CH471116,AA418441,AF067800,AF109146,AF200738,AF328684,AI400631,AJ133532,BC074822,BC074874,BC117439,BC117441 NP_057268,NP_919432,NP_919429,NP_919430,EAW88632,EAW88633,EAW88634,EAW88635,AAF75560,AAF14348,AAG35593,AAL56016,CAB54001,AAH74822,AAH74874,AAI17440,AAI17442,Q9UMR7 Hs.504657 GDB:9993164 CLECSF6|DCIR|DDB27|HDCGC13P|LLIR protein-coding 1349387 CLEC4C C-type lectin domain family 4, member C This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. 18022864,15489334,12975309,12477932,11748283,11536172,11086035,11031109 170482 NM_203503,NM_130441,AC006517,CH471116,AF293615,AF325459,AF325460,AK122596,AY358223,BC074967,BC074968,BC102015,BC102016,BC102017,BC114338 NP_987099,NP_569708,EAW88654,EAW88655,EAW88656,AAL37036,AAL37358,AAL37359,AAQ88590,AAH74967,AAH74968,AAI02016,AAI02017,AAI02018,AAI14339,Q8WTT0 Hs.351812 GDB:11500604 BDCA2|CD303|CLECSF11|CLECSF7|DLEC|HECL|MGC125789|MGC125791|MGC125792|MGC125793|PRO34150 protein-coding 1347298 CLEC4D C-type lectin domain family 4, member D This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 12945048,12477932,10508765,14971047 338339 AF411850,AY115592,AY297446,AY486482,AY486483,BC032313,BI909298,NM_080387,AC092746,CH471116 AAL37713,AAM75389,AAQ63173,AAS59161,AAS59162,AAH32313,Q8WXI8,ABM85355,NP_525126,EAW88619 Hs.351811 CLEC-6|CLEC6|CLECSF8|MCL|MGC40078|MPCL protein-coding 1344050 CLEC4E C-type lectin domain family 4, member E This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 10528209,16344560,15489334,12975309,12945048,12477932,10508765 26253 NM_014358,AC092746,CH471116,AB024718,AY358499,BC000715,DA669951,DA678013 NP_055173,EAW88617,EAW88618,BAA83755,AAQ88863,AAH00715,Q9ULY5 Hs.236516 GDB:11508675 CLECSF9|MINCLE protein-coding 1354444 CLEC4F C-type lectin domain family 4, member F 69939,633037 16713569,14702039,8889548,1846367 69939,633037 165530 NM_173535,AC007395,CH471053,AK096429,BC139723 NP_775806,EAW99794,BAC04786,AAI39724,Q8N1N0 Hs.681239 CLECSF13|FLJ39110|KCLR protein-coding 1354383 CLEC4G C-type lectin superfamily 4, member G 18083206,17339424,15489334,14711836,12975309,12477932 339390 NM_198492,AC008763,CH471139,AY203939,AY358431,AY423706,BC039679,BC093691,BC093693 NP_940894,EAW69003,AAP34462,AAQ88797,AAR84185,AAH93691,AAH93693,Q08G24,Q6UXB4,Q6XYD1 Hs.220649 LP2698|LSECtin|UNQ431 protein-coding 1625847 CLEC4GP1 C-type lectin domain family 4, member G pseudogene 1 14702039,12477932 440508 NR_002931,AC008812,AK090689,AK090734,AK123140,BC047593 AAH47593,Q4G0L5 Hs.568222 FLJ33370|FLJ33415|FLJ41145|MGC48640 pseudo 1603701 CLEC4M C-type lectin domain family 4, member M This gene encodes a type II integral membrane protein that is 77% identical to CD209 antigen, a HIV gp120-binding protein. This protein, like CD209, efficiently binds both intercellular adhesion molecule 3 (ICAM3) and HIV-1 gp120, and enhances HIV-1 infection of T cells. This gene is mapped to 19p13.3, in a cluster with the CD209 and CD23/FCER2 genes. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. 11257134,11337487,10072769,18171520,18083206,17876530,17715238,17530994,17509452,17037540,17006978,16894195,16453266,16434485,16386217,16369534,16364081,16061998,15812562,15784257,15509576,15496474,15489334,15371595,15195147,15184372,15111305,14702039,12502850,12477932,12403912,12223058,12152166,12050398,11739956,11384997,11226297,10975799,16365436,15795245,15215692,1736938,1518869,12621057,12634366 10332 NM_214677,NM_214678,NM_214675,NM_214676,NM_214679,AC008812,AF209481,CH471139,AB015629,AF245219,AF290887,NM_014257,AK023750,AK292278,AY042234,AY042235,AY042236,AY042237,AY042238,AY042239,AY042240,AY343913,BC038851,BC110614 NP_999842,NP_999843,NP_055072,NP_999840,NP_999841,NP_999844,AAG13815,EAW68983,EAW68984,EAW68985,EAW68986,EAW68987,EAW68988,EAW68989,EAW68990,BAA76496,AAG13848,AAK20998,BAB14667,BAF84967,AAK91859,AAK91860,AAK91861,AAK91862,AAK91863,AAK91864,AAK91865,AAR04559,AAH38851,AAI10615,Q2TB20,Q9H2X3,ABM84705 Hs.421437 GDB:9956367 CD209L|CD299|DC-SIGN2|DC-SIGNR|DCSIGNR|HP10347|L-SIGN|LSIGN|MGC129964|MGC47866 protein-coding 1343085 CLEC5A C-type lectin domain family 5, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. 10449773,15489334,12945048,12853948,12690205,12477932,10508765 23601 NM_013252,AC073647,CH236950,CH471070,AF139768,AI418484,AJ271684,AK292766,BC093714,BC112099,BC113098,BC113099,BQ005467,BQ446122 NP_037384,AAS07444,EAL24012,EAW83991,EAW83992,AAF02491,CAB71334,BAF85455,AAH93714,AAI12100,AAI13099,AAI13100,Q14DL9,Q9NY25 Hs.446235 GDB:9993154 CLECSF5|MDL-1|MDL1|MGC138304 protein-coding 1351045 CLEC6A C-type lectin domain family 6, member A 15810886,15368084,15175046 93978 NM_001007033,AC092746,AC092865,CH471116,AY321309,AY365135,BC132933,BC132935 NP_001007034,EAW88620,AAQ83725,AAR13071,AAI32934,AAI32936,Q6EIG7 Hs.591147 GDB:11508676 CLECSF10|dectin-2 protein-coding 1350458 CLEC7A C-type lectin domain family 7, member A This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. 11567029,17698636,17182550,16870151,16517740,16344560,16341139,15956283,15944324,15816015,15728245,15489334,15130945,14707091,12975309,12945048,12689921,12477932,12423684,11745369,11544516,11491532,11470510,10779524,10508765,7566098 64581 AY009090,AY026769,AY026770,AY026771,AY358685,AY359002,BC013385,BC071746,BC093829,BC093831,CR749536,DA193873,AJ312373,NM_197950,NM_197949,NM_022570,NM_197948,NM_197947,NM_197954,AC024224,CH471094,CQ779237,CQ779239,AA361063,AF313468,AF313469,AF400595,AF400596,AF400597,AF400598,AF400599,AF400600,AF400601,AF400602,AJ312372 CAC43847,AAG33923,AAK20114,AAK20115,AAK20116,AAQ89048,AAQ89361,AAH13385,AAH71746,AAH93829,AAH93831,CAH18342,Q68D78,Q6UWR2,Q96D32,Q96PA4,Q9BXN2,NP_922941,NP_922940,NP_072092,NP_922939,NP_922938,NP_922945,EAW96144,EAW96145,EAW96146,EAW96147,EAW96148,EAW96149,EAW96150,EAW96151,EAW96152,EAW96153,EAW96154,EAW96155,CAF63003,CAF63006,AAK37473,AAK37474,AAL11711,AAL11712,AAL11713,AAL11714,AAL11715,AAL11716,AAL11717,AAL11718,CAC43846 Hs.143929 GDB:11499097 BGR|CLECSF12|DECTIN1 protein-coding 1343177 CLEC9A C-type lectin domain family 9, member A 12975309 283420 NM_207345,AC024224,AY358265,EU339276 NP_997228,AAQ88632,ABZ04557,Q6UXN8 Hs.531189 UNQ9341 protein-coding 1602831 CLECL1 C-type lectin-like 1 DCAL1 is a type II transmembrane, C-type lectin-like protein expressed on dendritic cells (DCs) and B cells. It interacts with subsets of T cells as a costimulatory molecule that enhances interleukin-4 (IL4; MIM 147780) production.[supplied by OMIM] 12477932,12421943 160365 NM_172004,AC007068,CH471094,AF518873,AW237307,BC093857,BC093859 NP_742001,EAW96120,EAW96121,AAN64752,AAH93857,AAH93859,Q8IZS7 Hs.560087 DCAL1 dendritic cell-associated lectin-1 protein-coding 1343269 CLGN calmegin Calmegin is a testis-specific endoplasmic reticulum chaperone protein. CLGN may play a role in spermatogeneisis and infertility. 1580863 9177349,17081983,16264275,15489334,14702039,12477932,11784061,10495883,9434179,8126001,16189514 1047 NM_004362,AC093671,CH471056,AK093096,AK290819,BC028357,D86322 NP_004353,EAX05099,EAX05100,EAX05101,BAF83508,AAH28357,BAA22590,O14967,ABM83026,ABM86221 Hs.86368 GDB:5584378 protein-coding 1353337 CLIC1 chloride intracellular channel 1 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. 1580863 14667819,9139710,16130169,10793131,18028448,17347778,17326840,16289162,16236267,15827065,15489334,15190104,14656967,14613939,14574404,12681486,12477932,12163479,11978800,11551966,11195932,10834939,10384126,10191309,9841507,9373149,9339381,8125298,7938007,7711732,1345164 1192 NM_001288,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AF034607,AF109197,AK129773,AK223379,BC064527,BC095469,BM562536,CR542071,CR590898,CR593811,CR594574,CR596449,CR596711,CR602015,CR602891,CR606521,CR607137,CR613236,CR613259,CR619902,CR622923,CR623346,CR624716,U93205,X87689 NP_001279,AAD18073,CAB46078,CAI18417,CAI17826,CAM45776,BAB63376,CAM26101,EAX03503,EAX03504,CAQ07026,CAQ10114,CAQ08899,AAD20437,AAD26137,BAD97099,AAH64527,AAH95469,CAG46868,EAX03505,AAC25675,CAA61020,O00299,Q53FB0,Q5SRT2,Q5SRT3,Q5SRT6,Q5SSQ5 Hs.414565 GDB:6278990 G6|NCC27 protein-coding 1315278 CLIC2 chloride intracellular channel 2 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 2 is a member of the p64 family; the protein is detected in fetal liver and adult skeletal muscle tissue. This gene maps to the candidate region on chromosome X for incontinentia pigmenti. 1580863 16381901,15772651,15489336,15489334,15147738,12681486,12601004,12477932,11076863,9339381,8908511,1311421,16130169,11256614,18186468,18007051,17945253 1193 NM_001289,NG_005114,AJ000217,AJ000218,AJ000219,AL356738,CH471172,AK292785,AW961768,AY191592,BC005367,BC022305,BQ004708,BX482109,CD691162,Y12696 NP_001280,CAA03948,CAI41464,EAW72624,EAW72625,BAF85474,AAO38670,AAH22305,CAA73228,O15247,Q0JU78,Q7Z781,Q86YM0,CAL37933,ABM82940,ABM86130 Hs.655445 GDB:9177478 CLIC2b|XAP121 protein-coding 1316330 CLIC3 chloride intracellular channel 3 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. 1580863 9880541,17027078,15489334,12477932,11563969,9139710 9022 NM_004669,AL807752,CH471090,AF102166,AI741256,BC007012,BF439361,BM043659,CR542066,CR619171 NP_004660,CAI12762,CAI12764,EAW88329,EAW88330,AAD16450,AAH07012,CAG46863,O95833,Q5SPZ7,Q5SQ17,Q6FGP1 Hs.64746 GDB:9954775 protein-coding 737114 CLIC4 chloride intracellular channel 4 Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). 1580863 10191309,10070163,9880541,9295337,9139710,8175911,16189514,10793131,12163372,11256614,18028448,17636002,17200346,16842122,16381901,16316993,16239224,15489336,15489334,14702039,14569596,12477932,11563969,11230166,11076863 25932 NM_013943,AL445648,AL662924,CH471134,AF097330,AF109196,AK001624,AK095959,AL080061,AL117424,AL162008,BC012444,CR533501,CR592023,CR593119,Z24740,Z24749 NP_039234,EAW95142,EAW95143,EAW95144,EAW95145,EAW95146,AAD38446,AAD26136,BAA91794,CAB55916,AAH12444,CAG38532,Q5VSX5,Q9NVF8,Q9Y696,CAL38520 Hs.440544 GDB:9993170 CLIC4L|DKFZP566G223|FLJ38640|H1|MTCLIC|huH1|p64H1 protein-coding 1351761 CLIC5 chloride intracellular channel 5 Chloride intracellular channels are involved in chloride ion transport within various subcellular compartments. CLIC5 specifically associates with the cytoskeleton of placenta microvilli.[supplied by OMIM] 1580863 10793131,18028448,17492382,16303743,15489334,15184393,14702039,14574404,12477932,12200217,12163479,9373149,8889548,8125298 53405 NM_016929,NM_001114086,AL050336,AL357057,AL591211,CH471081,CQ783238,AF086005,AF176920,AF216941,AJ420547,AK025350,AK075144,AK075163,AK097048,AK222544,AK223130,AL049313,AY032602,BC020923,BC035968,BC039380,BQ184144,DQ679794 CAI21030,Q8N675,NP_058625,NP_001107558,CAI21031,EAX04285,EAX04286,EAX04287,CAF86432,AAQ13664,AAF66928,BAC11432,BAC11444,BAD96264,BAD96850,AAK52083,AAH20923,AAH35968,AAH39380,ABG46342,Q49AE1,Q53G01,Q7Z2R8,Q8NBY3,Q9NZA1,ABM83569,ABM86807 Hs.485489 GDB:9993172 CLIC5B|FLJ90663|MST130|MSTP130|dJ447E21.4 protein-coding 735803 CLIC6 chloride intracellular channel 6 This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. 1580863 15489334,14702039,14597386,12747765,12477932,12226712,10830953,8889549,14499480 54102 NM_053277,AP000330,CH471079,AF308293,AF426169,AF448438,AF448439,AK092733,AK289663,BC040196 NP_444507,EAX09775,EAX09776,AAL24813,AAN76729,AAN76730,BAC03959,BAF82352,AAH40196,Q96NY7 Hs.702188 GDB:9993168 CLIC1L protein-coding 1602726 CLINT1 clathrin interactor 1 14675752,10942595,17081983,18033301,16402136,15793701,15489334,15371541,15324660,15068792,14702039,12589059,12538641,12477932,12429846,12213833,8724849,16189514 9685 AC011394,AC026407,CH471062,NM_014666,AF434813,AK092765,AL529948,AL833548,BC004467,BC013091,BC030264,BI461076,BK000414,D79993 AAH04467,EAW61585,EAW61586,NP_055481,EAW61587,EAW61588,AAL30768,BAC03971,AAH13091,DAA00062,BAA11488,Q14677 Hs.699408 CLINT|ENTH|EPN4|EPNR|EPSINR|KIAA0171 protein-coding 69221 CLIP1 CAP-GLY domain containing linker protein 1 1580863 15928712,10052454,11940666,1356075,1600942,18237546,17889670,17828277,17563362,17081983,16964243,16772339,16574066,16565220,16362039,16120651,16083285,15345747,15302935,14702039,12833147,12789661,12477932,12433698,12231510,12110184,11966772,11290329,9784600,8222754,7983157,15572129 6249 NM_198240,NM_002956,AC048338,AC079406,AC093016,AC127002,CH471054,AB209115,AF045653,AK123769,AK126990,AY563000,BC039081,BC047895,BC062543,BC114213,BC117209,BC126305,BM998166,M97501,X64838 NP_937883,NP_002947,EAW98320,EAW98321,EAW98322,EAW98323,BAD92352,AAC03550,AAS75590,AAH39081,AAH47895,AAH62543,AAI14214,AAI17210,AAI26306,AAA35693,CAA46050,A0AVD3,O43667,P30622,Q17RS4,Q29RG0,Q59GJ4,Q6P5Z9,Q6PIA3,Q6Q318,Q86WU4 Hs.524809 GDB:139158 CLIP|CLIP-170|CLIP170|CYLN1|MGC131604|RSN restin protein-coding 734383 CLIP2 CAP-GLY domain containing linker protein 2 The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. 734863 9799601,17081983,15790807,15122254,14760703,12853948,12477932,12195424,12168954,11290329,9847074,9179496,8812460,10775108 734863 7461 CR600159,NM_003388,NM_032421,AC005015,AF041055,AF041056,AF041057,AF041058,AF041059,CH471200,AB006629,AI204077,AL157546,AY295764,AY927469,BC006259,BC150332 Q7Z5B7,Q9UDT6,AAI40370,AAI48703,NP_003379,NP_115797,AAF03524,AAB96784,EAW69603,EAW69604,BAA22960,AAP91873,AAI50333 Hs.647018 GDB:6948903 CLIP|CLIP-115|CYLN2|KIAA0291|MGC11333|WBSCR4|WSCR4 cytoplasmic linker 2 protein-coding 1603664 CLIP3 CAP-GLY domain containing linker protein 3 15489334,15262990,14702039,12477932,11854307 25999 NM_015526,AC002116,AJ427922,AK055421,AK056445,AK090732,AK092354,AK094738,AK289509,AL117468,BC013116,BC014486,BC128090 NP_056341,CAD20873,BAF82198,CAB55943,AAH13116,AAH14486,Q96DZ5 Hs.466539 CLIPR-59|CLIPR59|DKFZp586N1922|FLJ33413|RSNL1 protein-coding 1350068 CLIP4 CAP-GLY domain containing linker protein family, member 4 15489334,14702039,12477932,9373149 79745 NM_024692,AC093593,AC105398,CH471053,AF433661,AK023505,AK024722,AK057267,AK225074,AK291595,AL834443,BC013862,BC015310,BC126167,BC136331,AB209042 NP_078968,AAX88898,AAY24165,EAX00509,EAX00510,EAX00511,EAX00512,EAX00513,EAX00514,EAX00515,AAP97312,BAB14974,BAB71403,BAF84284,CAD39103,AAH15310,AAI26168,AAI36332,Q4ZFY2,Q53QT5,Q59GR7,Q8N3C7,BAD92279 Hs.122927 FLJ21069|FLJ32705|RSNL2 restin-like 2 protein-coding 1322944 CLK1 CDC-like kinase 1 This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. 1580863 1825055,1704889,17081983,16223727,15010457,14759258,12773558,12705895,12565863,12549978,12477932,11461155,11418604,10954422,10480872,9856501,8798720,8617202,7990150,16189514,12890497,8973360 1195 AC005037,CH471063,AI251890,AK025306,AK289365,BC028149,BC028573,BC031549,BE241788,CR591789,CR593610,CR609176,CR612115,CR617472,L29219,L29222,NM_004071,M59287 NP_004062,AAY14722,EAW70215,EAW70216,EAW70217,EAW70218,EAW70219,BAF82054,AAH28149,AAH28573,AAH31549,AAA61480,AAB59459,P49759,Q0P694,Q49AT2,Q8N5V8,Q9NRL6 Hs.433732 GDB:126862 CLK|CLK/STY|STY protein-coding 1343354 CLK2 CDC-like kinase 2 This gene encodes a member of the CLK family of dual specificity protein kinases. CLK family members have been shown to interact with, and phosphorylate, serine- and arginine-rich (SR) proteins of the spliceosomal complex, which is a part of the regulatory mechanism that enables the SR proteins to control RNA splicing. Note that this gene is distinct from TELO2 gene (GeneID:9894), which shares CLK2 and hCLK2 symbol aliases in common with this gene, but encodes a protein that is involved in telomere length regulation. 1580863 7990150,16344560,16189514,15489334,15324660,14759258,14702039,12477932,11579209,11285245,10480872,9856501,9852100,9758629,9637771,9331372,8910305,12705895 1196 NM_000157,NM_001005741,NM_001005742,NM_001005749,NM_001005750,AF023268,AL713999,CH471121,AK091036,AK291995,AU136826,BC006274,BC014067,BC053603,BI562223,CR623321,L29216,L29218,NM_003993 NP_003984,AAC51817,CAI95097,CAI95098,CAI95099,EAW53087,EAW53088,EAW53089,BAF84684,AAH06274,AAH14067,AAH53603,AAA61481,AAA61482,P49760,Q4VX13,Q4VX14,Q9BRG8,Q4VX15 Hs.73986,Hs.282997 GDB:450746 MGC61500|hCLK2 protein-coding 1345997 CLK2P CDC-like kinase 2, pseudogene 12690205,12477932,9856501,7990150 1197 NR_002711,AC006026,CH236948,BC022025 EAL24254,EAL24255,AAH22025,Q4G1B5 Hs.632635 GDB:9958306 pseudo 733625 CLK3 CDC-like kinase 3 This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. Pseudogenes located on chromosomes 1 and 9 have been found for this gene. 1580863 12477932,9856501,9637771,9373149,8889548,8125298,14702039,7990150,17192257,17081983,16189514,15489334,15324660,14759258 1198 NM_003992,NM_001292,AC100835,CH471136,AK026511,AK091692,AK096115,AK097982,AK122860,AK225680,AK291983,AL833165,BC002555,BC006103,BC009857,BC019881,BI459843,BM678884,BT006993,CR933693,L29217,L29220,AB209535 NP_003983,NP_001283,EAW99320,EAW99321,EAW99322,EAW99323,EAW99324,EAW99325,BAF84672,AAH02555,AAH06103,AAH19881,AAP35639,AAA61484,AAA61483,P49761,Q59FC5,BAD92772 Hs.584748 GDB:451287 FLJ22858|PHCLK3|PHCLK3/152 protein-coding 1321078 CLK4 CDC-like kinase 4 The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. 1580863 17081983,12824502,12705895,12477932,12169693,11170754 57396 BC015942,BC034633,BC046211,BC063116,BC065732,BC151233,BX647323,CB127989,CR749504,NM_020666,AC022096,CH471165,AF294429 AAG10074,AAH34633,AAH65732,CAH18325,Q4G0Z5,Q68D95,Q6P090,Q9HAZ1,NP_065717,EAW53831,EAW53832 Hs.406557 GDB:11505790 DKFZp686A20267 protein-coding 1602256 CLLU1 chronic lymphocytic leukemia up-regulated 1 17786715,17284524,16529606,16339396 574028 NM_001025233,AC063949,AJ845162,AJ845163,AJ845164,AJ845165,AJ845166,AJ845167 NP_001020404,CAH61080,CAH61081,Q5K131,AAI40253,AAI46526 Hs.339918 protein-coding 1604877 CLLU1OS chronic lymphocytic leukemia up-regulated 1 opposite strand 16339396 574016 NM_001025232,AC063949,AJ845168 NP_001020403,CAH61082,Q5K130,AAI48494,AAI53087 Hs.551199 protein-coding 1350291 CLM cutis laxa with marfanoid phenotype 2704655 1199 GDB:128336 1315532 CLMN calmin (calponin-like, transmembrane) 1580863 14702039,12508121,12477932,11386753,10574461 79789 AL117187,AL356017,CH471061,AB033014,AB047979,AK022279,AK023828,AK025226,AL117526,BC014554,BC025251,NM_024734,BC032699,BC040108,BC049365,BC068482 NP_079010,EAW81597,EAW81598,BAA86502,BAB59010,BAB13999,BAB15087,CAB55978,AAH14554,AAH25251,AAH32699,AAH68482,Q6NUQ2,Q6PJJ6,Q96JQ2 Hs.301478 FLJ12383|KIAA1188 protein-coding 1345435 CLN3 ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. 1598669,1580863 8980123,10924275,16251196,15240864,11722572,9949212,10740217,15471887,10191111,10191116,12706816,10191112,12134079,10332042,11590129,17947292,17896996,17482562,17286803,17081983,16714284,16515873,16344560,16291725,16087292,15657902,15598649,15489334,15469932,15302935,15240430,15032383,14759258,14702039,14699076,14660799,14622109,12477932,12440525,12189165,12125809,11699874,11375929,10509355,10493829,10191115,9490299,9450775,9384607,9311735,9119403,9004140,7887420,7553855 1598669 1201 NM_001042432,NM_000086,AC002425,AC002544,AC138894,CH471279,CQ834698,X99832,AF015594,AF015595,AF015596,AF015597,AF015598,AF015599,AF015600,AF015601,AF015602,AF077956,AF077957,AF077958,AF077959,AF077960,AF077961,AF077962,AF077963,AF077964,AF077965,AF077966,AF077967,AF015593,BC111068,BK001540,CR591558,CR596104,CR596659,CR597053,CR600759,CR601899,CR605499,CR606893,CR607307,CR611125,CR611571,CR613621,AF077968,AF077969,AF077970,AF077971,AF077972,AF077973,AF078168,AF078169,AI138575,AK090709,AU105965,BC002394,BC004433,CR613839,CR613843,CR614077,CR615669,CR616337,CR619077,CR619228,CR620473,DA552461,DA869025,DB101039,EF587244,EF587245,U32680,CR613713 NP_001035897,NP_000077,AAC05337,AAC27430,EAW52281,EAW52282,EAW52283,EAW52284,EAW52285,EAW52286,EAW52287,EAW52288,EAW52289,EAW52290,EAW52291,EAW52292,EAW52293,EAW52294,EAW52295,EAW52296,EAW52297,EAW52298,EAW52299,CAH05564,CAA68148,AAD01556,AAD01557,AAD01558,AAD01559,AAD01560,AAD01561,AAD01562,AAD01563,AAD01564,AAD51478,AAD51479,AAD51480,AAD51481,AAD51482,AAD51483,AAD51484,AAD51485,AAD51486,AAD51487,AAD51488,AAD01555,AAH04433,AAI11069,DAA02067,Q549S9,Q5XFT9,Q9UBD8,Q9UBH5,Q9UP08,Q9UP10,Q2TA70,AAD51489,AAD51490,AAD51491,AAD51492,AAD51493,AAD51494,AAD51495,AAD48542,AAD48543,AAH02394,ABW04812,ABW04813,AAB51075,O95085,O95086,O95087,O95088,O95089,O95090,O95091,O95092,O95093,Q13286 Hs.628393 GDB:120593 BATTENIN|BTS|MGC102840 protein-coding 1347877 CLN4 ceroid-lipofuscinosis, neuronal 4 (Kufs disease) 1202 GDB:125229 1315879 CLN5 ceroid-lipofuscinosis, neuronal 5 The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky-Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM] 1580863 11722572,10740217,9662406,17607606,16814585,15728307,14997939,12125809,11971870,10477428,8661106,7942847,193610,17353931,12134079,10992246 1203 NM_006493,AC001226,CH471093,AF068227,AK075109,CR620773 NP_006484,EAW80561,EAW80562,AAC27614,O75503,AAI46275,AAI53155 Hs.30213 GDB:230991 FLJ90628|NCL protein-coding 1320201 CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 1358512,1580863 14702039,15489334,12815591,12673792,12477932,11791207,9097964,15010453,16857350,11722572,10740217,15265688,11727201,17453415,17081983,16303743,15996215 1358512 54982 NM_017882,AC107871,CH471082,AK000568,AK027604,AK074753,AK124013,AK291175,BC010849,BC013130,CR457244 NP_060352,EAW77811,EAW77812,EAW77813,EAW77814,EAW77815,EAW77816,BAA91260,BAB55226,BAC11181,BAC85752,BAF83864,AAH10849,AAH13130,CAG33525,Q6ZVV8,Q8NCG1,Q9NWW5,ABM82406,ABW03399 Hs.584921 GDB:4073043 FLJ20561|HsT18960|nclf protein-coding 1343617 CLN7 ceroid-lipofuscinosis, neuronal 7, late infantile, variant 1206 GDB:9834888 1346223 CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. 1580863 12151215,16086686,10508524,10861296,16344560,15489334,15024724,14702039,14508709,12477932,11073227,10740217,8743986 2055 AK096736,AW296697,BC007725,BT007049,DA193710,NM_018941,AC100810,CH471181,CS072298,AF123757,AF123758,AF123759,AF123760,AF123761 AAF13119,BAC04854,AAH07725,AAP35698,Q8N8I7,Q9UBY8,NP_061764,EAW51477,EAW51478,EAW51479,CAI93436,AAF13115,AAF13116,AAF13117,AAF13118 Hs.127675 GDB:252118 C8orf61|EPMR|FLJ39417 protein-coding 732210 CLNS1A chloride channel, nucleotide-sensitive, 1A 1580863 9359436,15130578,7887970,8579598,17081983,16368544,16087681,15905169,15489334,15075326,14960305,12477932,11756452,11747828,11713266,10825435,10330151,9694734,9556550,9533029,8975725 1207 NM_001293,AF232224,AF232225,AF232708,AP000609,CH471076,AF005422,AF026003,BC119634,BC119635,BT019907,CR603737,CR604322,CR605039,CR617856,U17899,U53454,X91788 NP_001284,AAF76858,AAF76859,AAF76861,EAW75032,AAB61444,AAB88806,AAI19635,AAI19636,AAV38710,AAC50111,AAB03316,CAA62902,P54105,Q9P1H0 Hs.430733,Hs.598033 GDB:3922523 CLCI|CLNS1B|ICln protein-coding 1351774 CLNS1B chloride channel, nucleotide-sensitive, 1B 9524223,8975725 1204 NG_002905,AL031885 GDB:9130566 ICln pseudo 1348034 CLOCK clock homolog (mouse) This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors. Polymorphisms within the encoded protein have been associated with circadian rhythm sleep disorders. A similar protein in mice is a circadian regulator that acts as a transcription factor and forms a heterodimer with aryl hydrocarbon receptor nuclear translocator-like to activate transcription of mouse period 1. 1580863 17239050,17221848,17116390,17106427,16528748,16474406,16232160,16125818,16024980,15952199,15917222,15905809,15578592,15572273,15489334,15475734,15331141,14750904,14701732,14582141,12898572,12897057,12841365,12477932,12464098,11927173,11927136,11511917,11337377,11018023,10973243,10864977,9989497,9779516,9373149,9205841,8125298,14701734,14645221,10198158,9576906,18379422,18314271,18228528,18071340,17994337,17948273,17848551,17701674,17696255,17551301,17516548,17469042,17428266,17364575,17264841 9575 CH471057,NM_004898,AB059556,AB061682,AC024243,AC069200,AC110372,AF097458,AF260318,AB002332,AB005535,AF011568,AK223549,AK291708,BC041878,BC126157,BC126159,BX537616 NP_004889,BAB88852,BAB92020,AAF13733,AAF70307,EAX05468,BAA20792,BAA21774,AAB83969,BAD97269,BAF84397,AAH41878,AAI26158,AAI26160,O15516,Q3ZCT4,Q53EU0,Q8N757,Q8TAB0,Q9NYB7,ABZ92219 Hs.436975 GDB:9785615 KAT13D|KIAA0334 protein-coding 1602724 CLP1 CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) 8896421,12226669,17495927,15489334,15109492,12477932,11060040 10978 AP000662,CH471076,BC000446,U73524,NM_006831 NP_006822,EAW73770,AAH00446,AAC50780,Q92989 Hs.523687 HEAB|hClp1 protein-coding 731315 CLPB ClpB caseinolytic peptidase B homolog (E. coli) 15489334,15231748,14702039,12927788,12477932,11230166,7835694,16189514 81570 NM_030813,AP000593,AP002892,AP003785,CH471076,AK023214,AL136909,AL834484,BC006257,BC006404,CR592139,CR615664 NP_110440,EAW74858,EAW74859,EAW74860,BAB14467,CAB66843,CAD39142,AAH06257,AAH06404,Q7Z777,Q9H078,ABW03886,ABW03573 Hs.523877 FLJ13152|HSP78|SKD3 protein-coding 1343928 CLPP ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. 1580863 8543061,16115876,15522782,15489334,12477932,11923310,10525407,9512494 8192 NM_006012,AC011491,CH471139,BC002956,BF339807,CR595775,CR626690,Z50853 NP_006003,EAW69103,AAH02956,CAA90705,Q16740,ABM86749,ABW03819 Hs.515092 GDB:9954598 clpp caseinolytic protease, atp-dependent, proteolytic subunit homolog (e. coli) protein-coding 731525 CLPS colipase, pancreatic The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. 1580863 17715423,16189801,15489334,15287741,12598038,12477932,11278590,11099794,10570245,9240923,8479519,6691986,2337598,2045105,1643046,1522902,16189514 1208 NM_001832,AL157823,CH471081,M95529,AY780648,BC007061,BC017897,BC025693,BC043489,BT006812,J02883 NP_001823,CAI21642,EAX03850,EAX03851,AAB05818,AAV35728,AAH07061,AAH17897,AAP35458,AAA52054,P04118 Hs.1340 GDB:127277 protein-coding 1352897 CLPSMCR coactosin-like, Smith Magenis syndrome chromosome region 10615134 27170 NG_001537,AC022596 GDB:10795887 COTL1P1 pseudo 1322154 CLPTM1 cleft lip and palate associated transmembrane protein 1 9218588,9828125,16303743,16263699,16247549,16122939,16102578,15489334,12477932,9373149,8125298 1209 CH471126,CQ834666,AF037339,AK074935,AK075262,AK223553,BC004865,BC012359,BT007262,CR591313,CR595770,CR601372,CR604972,CR611720,CR614486,NM_001294,AC011481,AF037338 AAC97420,EAW57314,EAW57315,CAH05548,AAC98151,BAD97273,AAH04865,AAH12359,AAP35926,O96005,ABM83162,ABM86362,NP_001285 Hs.444441 GDB:9836111 protein-coding 1605932 CLPTM1L CLPTM1-like 14702039,12477932,11162647 81037 NM_030782,AC026748,CQ834660,AB045223,AK027306,AK128462,AL137440,AL832953,BC016399,BC025305,BC040705,CR592270,CR593991,CR622671,CR624671,AC114291,CH471102 NP_110409,EAX08161,EAX08162,EAX08163,EAX08164,CAH05545,BAB20083,BAB55030,CAH56333,AAH16399,AAH25305,Q96KA5,ABM83073,ABM86269 Hs.444673 CRR9|DKFZP761M2324|DKFZp666M1010|FLJ14400 protein-coding 1312578 CLPX ClpX caseinolytic peptidase X homolog (E. coli) 1580863 10347188,17353931,18313382,16115876,11923310,11230166,11003706 10845 NM_006660,AC013553,AC068213,AJ276980,CH471082,AJ006267,AK292316,AL136922,BC130373 NP_006651,CAC01291,EAW77715,EAW77716,CAA06933,BAF85005,CAB66856,AAI30374,O76031,Q9H072 Hs.113823 GDB:9958405 clpx caseinolytic protease x homolog (e. coli) protein-coding 737108 CLRN1 clarin 1 This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 634439,1580863 15521980,15650299,18484607,15489334,14569126,12477932,12145752,12080385,11524702,10704288,10364543,8975700,7711740 634439 7401 NM_052995,NM_174878,AC020636,CH471052,AF388366,AF388368,AF482697,AF495717,BC074970,BC074971 NP_443721,NP_777367,EAW78814,EAW78815,EAW78816,AAL09581,AAL09582,AAN07148,AAM88774,AAH74970,AAH74971,P58418 Hs.380222 GDB:392645 USH3|USH3A usher syndrome type iii a protein-coding 1603592 CLRN1OS clarin 1 opposite strand 11524702 116933 NG_006573,AF388367 Hs.570680 UCRP pseudo 2291757 CLRN2 clarin 2 15489334,12477932,12080385 645104 NM_001079827,AC093600,BC127863 NP_001073296,AAI27864,A0PK11 Hs.631526 protein-coding 1603923 CLRN3 clarin 3 15489334,15164054,12477932,12145752,12080385 119467 BX640823,NM_152311,AL158166,CH471066,BC029478 AAH29478,CAE45899,Q8NCR9,NP_689524,CAI14770,EAW49191,EAW49192 Hs.242014 DKFZp686F11218|MGC32871|TMEM12|USH3AL1 protein-coding 1351955 CLS Coffin-Lowry syndrome 1210 GDB:119784 1319224 CLSPN claspin homolog (Xenopus laevis) Xenopus claspin is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in the presence of DNA templates in Xenopus egg extracts. The human gene appears to be the homolog Xenopus claspin and its function has not been determined. 1580863 11090622,12791985,15226314,15707391,18331829,18077083,17431426,17274954,17102137,17081983,16963448,16951182,16934469,16885022,16885021,16880517,16828751,16710414,16501606,16123041,15489334,15279790,15190204,15096610,12766152,12477932 63967 NM_022111,AL354864,CH471059,AF297866,BC018670,BC038991,BC062215,BC113116,BC115023,BC115024,BC115025,BC115026,BC115027,BC137279,BC140789,BG109920 Q1RMC6,Q2KHM3,Q9HAW4,Q1RMC5,NP_071394,CAH73807,EAX07401,EAX07402,AAG24515,AAH18670,AAH38991,AAH62215,AAI13117,AAI15026,AAI15027,AAI37280,AAI40790,Q05D30 Hs.175613 CLASPIN|MGC131612|MGC131613|MGC131615 protein-coding 1315087 CLSTN1 calsyntenin 1 1580863 16760430,16710414,15146195,15037614,14702039,12972431,12477932,12421765,11161476,10048485,9373149,8125298 22883 NM_014944,NM_001009566,AL357140,AL691449,CH471130,AB020718,AF438482,AK000605,AK001591,AK056820,AK225500,AK289798,AY545556,AY753301,BC033902,CB132727 NP_055759,NP_001009566,CAI16884,CAI16885,CAI15704,EAW71629,EAW71630,BAA74934,AAQ04552,BAF82487,AAV30551,AAH33902,O94985,Q5SR54,ABM82189,ABM85376 Hs.29665 GDB:9957256 ALC-ALPHA|CSTN1|FLJ32258|KIAA0911|PIK3CD|XB31alpha|alcalpha1|alcalpha2 protein-coding 1350123 CLSTN2 calsyntenin 2 1580863 12972431,15489334,15037614,14702039,12498782,12477932 64084 NM_022131,AC010181,AC048346,AC092988,AC108744,AC117390,AC117396,AC117449,CH471052,AJ278018,AK056411,AK096432,AK096818,AY753303,BC004871,BC007943,BC103496,BC103506,BC104485 NP_071414,EAW79016,EAW79017,EAW79018,CAC14924,AAV30553,AAH04871,AAH07943,AAI03497,AAI03507,AAI04486,Q9H4D0 Hs.158529 GDB:11505792 ALC-GAMMA|CS2|CSTN2|FLJ39113|FLJ39499|MGC119560|alcagamma protein-coding 732033 CLSTN3 calsyntenin 3 1580863 16344560,15489334,15037614,12972431,12498782,12477932,9872452 9746 NM_014718,AC018653,CH471116,AA864252,AB018269,AJ277460,AY753302,BC039075,BC104767,BC111491,BC112283,CR621580,DA092023 NP_055533,EAW88676,EAW88677,EAW88678,EAW88679,EAW88680,BAA34446,CAC33084,AAV30552,AAH39075,AAI04768,AAI11492,AAI12284,Q5UE57,Q8IUW6,Q9BQT9 Hs.535378 GDB:9958190 CSTN3|KIAA0726|MGC131797|MGC138488|alcbeta protein-coding 733774 CLTA clathrin, light chain (Lca) Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. 1580863,1300048 10567358,11157096,18165318,16138905,15489334,15164053,12692238,12589051,12477932,12426379,11889126,9373149,8125298,7713494,3267234,2406259,2211724,2204686,1975516,16189514 1211 NM_007096,NM_001076677,NM_001833,AL158830,CH471071,AK225153,AK291078,BC009201,BC019287,BT007170,CR592974,CR599344,CR599555,CR609772,CR614689,CR615637,CR617120,CR617619,CR618766,CR626844,DQ270158,M20471,M20472 NP_009027,NP_001070145,NP_001824,CAD13387,CAD13388,EAW58310,EAW58311,EAW58312,BAF83767,AAH09201,AAH19287,AAP35834,ABB76683,AAA51817,AAA59505,P09496 Hs.522114 GDB:128049 LCA protein-coding 733395 CLTB clathrin, light chain (Lcb) Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. 1580863 16138905,15489334,12589051,12477932,12426379,11889126,10360576,7836475,7713494,3267234,3128543,2874131,2211724,2204686,1189126 1212 NM_001834,NM_007097,AC138956,CH471195,BC006332,BC006457,BM761740,BT007028,CR536577,M20469,M20470 NP_001825,NP_009028,EAW85077,EAW85078,EAW85079,EAW85080,AAH06332,AAH06457,AAP35675,CAG38814,AAA51818,AAA59506,P09497,Q53Y37 Hs.484241 GDB:125861 LCB protein-coding 732795 CLTC clathrin, heavy chain (Hc) Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. 1580863,1300048 11799118,17220478,17353931,1765375,10567358,11157096,18363968,18042253,17952123,17550971,17307723,17081065,16903783,16618797,16138905,15917292,15489334,15383276,15324660,15302935,15067034,14702039,14563850,12960147,12952949,12952941,12732633,12665801,12589051,12477932,12429846,12426379,12237126,12221107,12105200,11964161,11889126,11877451,11532990,11532964,11470803,11451993,11387476,11301005,11278436,10862698,10692452,10477727,10436022,10360576,10336464,10330411,10097102,9827808,9603201,9545220,9280305,9195986,9169477,8733129,8276759,7584028,7584026,6147350,2406259,2154445,1587861,9314527,15133132,14743216,11517213 1213 NM_004859,AC091271,CH471109,AB073891,AK127134,BC015854,BC036430,BC051800,BC054489,BX473803,BX640615,CR617482,CR625541,CR625967,D21260,X55878 NP_004850,EAW94395,EAW94396,EAW94397,EAW94398,EAW94399,AAH36430,AAH51800,AAH54489,CAE45761,BAA04801,CAA39363,Q00610,Q49AL0 Hs.491351,Hs.663896 GDB:125862 CHC|CHC17|CLH-17|CLTCL2|Hc|KIAA0034 protein-coding 1350184 CLTCL1 clathrin, heavy chain-like 1 This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. 1580863 14702039,12477932,10737800,10436022,8776594,8733129,8844170,8733128,17081983,15998911,15790807,15146197,15133132 8218 NM_007098,AC000081,AC000085,AC000094,AC004463,CH471176,AK125929,AY927418,BC113030,BF893495,CN428107,L77568,U41763,U60802,U60803,X95486,X95487 NP_009029,EAX03046,EAX03047,AAI13031,AAC50494,AAB40908,AAB40909,CAA64752,CAA64753,P53675,AAI66681 Hs.368266 GDB:636048 CHC22|CLH22|CLTCL|CLTD|FLJ36032 clathrin, heavy polypeptide-like 1 protein-coding 68978 CLU clusterin 1581194,727237,1581195,734787,1580863,1626306 11892985,11813210,11795992,11714447,11570883,11186422,10329371,10219089,9537999,9336835,9228033,8889548,8843912,8759347,8752142,8634259,8555189,8387101,8345200,8328966,8292612,8181474,7768901,7680346,7626703,7615015,3167096,3154963,2780570,2780565,2721499,2601725,2454950,2185274,1974459,1924317,1903064,1585460,1551440,1491011,1424805,16189514,17043677,2387851,14718574,18082619,18079682,17974975,17872975,17855704,17689225,17535098,17534116,17512083,17451556,17420006,17412999,17322305,17260971,17224269,17203891,17148459,17080454,17056579,17048076,16955214,16806233,16775601,16740002,16709934,16709604,16675913,16490286,16464517,16421571,16335952,16331665,16263699,16179938,16113678,15955107,15929184,15925890,15883054,15809754,15791650,15689620,15649646,15591223,15538973,15499376,15492264,15489334,15480429,15389725,15304052,15252304,15247015,15158456,15146195,15133840,15033782,14760718,14702039,14618611,12882985,12867999,12860995,12824284,12754519,12679903,12551933,12477932,12470829,12429802,12427144,12393179,12200037,12176985,12172907,12082621,11906815 1581194,727237,1581195,734787,1626306 1191 AAB25217 NM_203339,A21577,AF311103,AY172563,AY184486,AY341244,L00974,M63379,AK093399,AY513288,BC010514,BC013221,BC019588,BC029972,BF528374,BG819541,BG914262,BM723283,BQ181025,BQ181739,BX418836,BX459023,BX648414,CR589989,CR591047,CR591650,CR591665,CR591897,CR592219,CR592779,NM_001831,CR592811,CR593262,CR593810,CR594019,CR594036,CR594231,CR594276,CR594739,CR595225,CR595338,CR596994,CR597230,CR597462,CR597976,CR598074,CR598219,CR599454,CR599502,CR599643,CR599675,CR600109,CR600144,CR601653,CR602228,CR602800,CR603179,CR603735,CR604320,CR604582,CR605669,CR606623,CR606673,CR606818,CR606845,CR607740,CR607913,CR608066,CR608273,CR608526,CR609112,CR609937,CR610613,CR610801,CR611421,CR611535,CR612244,CR613818,CR615018,CR615768,CR616963,CR616998,CR617450,CR617497,CR617881,CR618048,CR619709,CR619820,CR619848,CR620190,CR620616,CR620651,CR621942,CR622570,CR623105,CR623634,CR623710,CR624051,CR624705,CR625885,J02908,M25915,M26639,M64722,M74816,X14723 NP_001822,NP_976084,CAA01560,AAN87347,AAN78322,AAP88927,AAA60567,AAB06507,AAT08041,AAH10514,AAH19588,CAI45990,AAB25217,P10909,Q2TU75,Q6LDQ3,Q8IWL5,Q8IWM0,ABM82371,ABM85549,CAA32847,AAA51765,AAA35692,AAA36609,AAB06508,AAA60321 Hs.436657 GDB:125226 AAG4|APOJ|CLI|KUB1|MGC24903|SGP-2|SGP2|SP-40|TRPM-2|TRPM2 protein-coding 1354421 CLUAP1 clusterin associated protein 1 1580863 17203229,15489334,15480429,14702039,12477932,9734811,16189514 23059 NM_015041,NM_024793,AC004224,AC004494,CH471112,AB014543,AB089691,AK023319,AK023359,BC017070,CR604131 NP_055856,NP_079069,EAW85352,EAW85353,EAW85354,BAA31618,BAD44779,BAB14523,BAB14542,AAH17070,Q96AJ1 Hs.155995 FLJ13297|KIAA0643 protein-coding 1315705 CLUL1 clusterin-like 1 (retinal) 1580863 17286855,15489334,14507903,12477932,10675623 27098 NM_199167,AP001178,CH471113,AF395889,NM_014410,AL712819,AL713125,BC025381,BX108184,D63813,DQ980621 NP_055225,NP_954636,EAX01724,EAX01725,EAX01726,AAM73723,AAH25381,BAA09882,ABJ97142,A0FDN7,Q15846,Q6ZR48,ABM81845,ABM84996 Hs.632357 GDB:10796290 RA337M protein-coding 1312156 CLYBL citrate lyase beta like 1580863 14702039,12477932,11741334 171425 NM_206808,AL137139,AL139035,AL359748,AL445184,CH471085,AF428253,AK095506,BC034360 NP_996531,CAI39516,CAI39517,CAI39518,CAI39519,CAI39520,CAI39521,CAH71384,CAH71385,EAX09024,EAX09025,AAL84703,BAC04561,AAH34360,Q5JVC0,Q5W0F7,Q8N0X4 Hs.655642 GDB:11508957 CLB|bA134O15.1 protein-coding 735367 CMA1 chymase 1, mast cell This gene product is a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Angiotensin II has been implicated in blood pressure control and in the pathogenesis of hypertension, cardiac hypertrophy, and heart failure. Thus, this gene product is a target for cardiovascular disease therapies. This gene maps to 14q11.2 in a cluster of genes encoding other proteases. 1581742,1625397,1625396,1625394,1580863 12097409,11852067,12047032,11751973,11696688,11303326,11208365,11096141,10899625,10224464,10208809,9931257,9675146,9400368,9257865,8695029,8495723,8468056,8226889,8027075,7682566,2071582,2049082,1894611,8144971,18079408,17851694,17460374,17334631,17035401,16962475,16786130,16520412,16446531,16400609,16317101,16134991,16020275,15924217,15919053,15914614,15788353,15638376,15555355,15489334,15449728,15248847,15227657,15106801,14757520,14701812,14592513,12815038,12614156,12531890,12499576,12484503,12477932,12446192,12359984,12165749 1581742,1625397,1625396,1625394 1215 M69136,S61334,NM_001836,AL132800,CH471078,M64269,M69137,X59072,BC069110,BC069370,BC069490,BC103974,BC103975,DQ082727,DQ082729 AAZ06434,AAA52019,AAB26828,P23946,Q3SY36,Q3SY37,Q4FEB3,Q4FEB5,Q9UDH5,NP_001827,EAW66007,AAA52020,AAA52021,CAA41796,AAH69110,AAH69370,AAH69490,AAI03975,AAI03976,AAZ06432 Hs.135626 GDB:127603 CYH|MCT1|MGC119890|MGC119891 protein-coding 1352628 CMAH cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase) pseudogene Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. 9751737,11562455,11522390,9786333,9675135,9624188,8889548,7608218,16272417,14574404,12477932,12192086 8418 NR_002174,AL133268,AF074480,AK000716,BC022302,BC032500,BC059791,BG536615,CA312822,CR595916,CR611086,CR749466,D86324 CAI20561,CAI20562,CAI20563,AAH32500,CAH18297,Q05BX0,Q9Y471 Hs.484918 GDB:9955108 CMAHP|CSAH pseudo 1349283 CMAR cell matrix adhesion regulator 1560826 GDB:132403 1322088 CMAS cytidine monophosphate N-acetylneuraminic acid synthetase The enzyme encoded by this gene catalyzes the activation of Neu5Ac to Cytidine 5-prime-monophosphate N-acetylneuraminic acid (CMP-Neu5Ac), which provides the substrate required for the addition of sialic acid. Sialic acids of cell surface glycoproteins and glycolipids play a pivotal role in the structure and function of animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development, and changes with stages of differentiation. Studies of a similar murine protein suggest that this protein localizes to the nucleus. 1580863 15489334,14702039,12477932,12136098,11893746,11602804,11546777,9689047,9373149,8889549,8889548,8125298,7566098 55907 AL832975,BC016609,BM671960,CR593371,CR595725,CR607219,CR608833,CR610509,CR614682,CR616717,CR622845,CR625607,CR626093,NM_018686,AC007671,AC092862,AJ326388,CH471094,AF271388,AF397212,AK022927,AK222981 BAD96701,CAH56346,AAH16609,Q53GF0,Q8NFW8,NP_061156,EAW96464,EAW96465,EAW96466,AAF76203,AAM90580,BAB14311 Hs.311346 GDB:9957762 protein-coding 1606460 CMBL carboxymethylenebutenolidase homolog (Pseudomonas) 17353931,16344560,12477932,3804974 134147 NM_138809,AC012640,CH471102,AJ278125,AK074197,BC001573,BX647141,DA628493 NP_620164,EAX08070,EAX08071,CAC81950,BAB85014,AAH01573,Q96DG6 Hs.192586 FLJ23617 protein-coding 1349369 CMD1A cardiomyopathy, dilated 1A (autosomal dominant) 7951328 1217 GDB:434478 1346621 CMD1B cardiomyopathy, dilated 1B (autosomal dominant) 7573045 1218 GDB:677147 1348558 CMD1C cardiomyopathy, dilated 1C (autosomal dominant) 8823300 1219 GDB:9140435 1345968 CMD1D cardiomyopathy, dilated 1D (autosomal dominant) 8521556 1220 GDB:9836217 1343233 CMD1E cardiomyopathy, dilated 1E (autosomal dominant) 8567977 1221 GDB:9836219 1353978 CMD1F cardiomyopathy, dilated 1F (autosomal dominant) 9382102 1222 GDB:9836221 1347211 CMD1H cardiomyopathy, dilated 1H (autosomal dominant) 23459 GDB:9956586 1349190 CMD1J cardiomyopathy, dilated 1J (autosomal dominant) 10769282 56002 GDB:10796782 1352561 CMD1K cardiomyopathy, dilated 1K (autosomal dominant) 11085912 65014 GDB:11500413 1343665 CMD2A cardiomyopathy, dilated 2A (autosomal recessive) 1224 GDB:701522 1348222 CMDJ craniometaphyseal dysplasia, Jackson type (dominant) 1225 GDB:9595425 1344958 CMH2 cardiomyopathy, hypertrophic 2 7981753 1227 GDB:137324 1348233 CMH3 cardiomyopathy, hypertrophic 3 1228 GDB:138299 1603294 CMIP c-Maf-inducing protein 15128042,14702039,12939343,12477932,11214970 80790 NM_198390,NM_030629,AC092135,AC092139,AC099480,AC099524,CH471114,AB051481,AK096598,AY172689,BC038113,CR594637 NP_938204,NP_085132,EAW95527,EAW95528,EAW95529,BAB21785,AAO17720,AAH38113,Q8IY22 Hs.594095 KIAA1694 protein-coding 1348723 CMKLR1 chemokine-like receptor 1 1580863 9425281,9144535,9603476,16904155,15753205,15489334,14759258,12477932,8976386 1240 AB065871,AC009729,AC063957,CH471054,L12406,Y14838,AB112777,AK291800,AY497547,BC106927,BC106928,BT019556,BT019557,U79526,NM_004072,U79527 NP_004063,BAC06089,EAW97810,AAQ62778,CAA75112,BAF34667,BAF84489,AAR90850,AAI06928,AAI06929,AAV38363,AAV38364,AAC51258,AAC51259,Q05KQ8,Q5U0H0,Q6LEE7,Q99788 Hs.506659 GDB:687010 CHEMERINR|ChemR23|DEZ|MGC126105|MGC126106 protein-coding 1349386 CMM cutaneous malignant melanoma/dysplastic nevus 1531137 1243 GDB:119059 1604360 CMPK1 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic Uridine monophosphate (UMP)/cytidine monophosphate (CMP) kinase (EC 2.7.4.4) catalyzes the phosphoryl transfer from ATP to UMP, CMP, and deoxy-CMP (dCMP), resulting in the formation of ADP and the corresponding nucleoside diphosphate. These nucleoside diphosphates are required for cellular nucleic acid synthesis (Liou et al., 2002 [PubMed 11912132]).[supplied by OMIM] 10462544,17608725,16710414,15606899,15550676,15489334,15163660,12694191,12477932,11912132,11681623,10931946,9373149,8313870,8125298,1286669 51727 NM_016308,AL513322,AL607122,CH471059,AF070416,AF087865,AF110643,AF112216,AF259961,AK025258,AK223014,BC014961,BC017806,CR592014,CR602827,CR604946 NP_057392,CAI13469,CAI13470,CAI13471,CAI14970,CAI14971,CAI14972,EAX06869,EAX06870,EAX06871,AAF17709,AAP97174,AAD48583,AAF17204,AAG22609,BAD96734,AAH14961,P30085,ABM83139,ABM86334,ABM86335 Hs.11463 CMK|CMPK|RP11-511I2.1|UMK|UMP-CMPK|UMPK protein-coding 1602074 CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial Mitochondrial UMP-CMP kinase (EC 2.7.2.14) is a component of the salvage pathway for nucleotide synthesis. Other enzymes of the salvage pathway include thymidine kinase-2 (TK2; MIM 188250), deoxynucleotidase-2 (NT5M; MIM 605292), deoxyguanosine kinase (DGUOK; MIM 601465), adenylate kinase-2 (AK2; MIM 103020), adenylate kinase-3 (AK3; MIM 609290), adenylate kinase-3-like-1 (AK3L1; MIM 103030), and nucleoside diphosphate kinase (NME4; MIM 601818) (Xu et al., 2008 [PubMed 17999954]).[supplied by OMIM] 17999954,16344560,12477932 129607 NM_207315,AC017076,CH471053,AK127983,BC016969,BC089425,BC132821,BC141802,CR623316,DA501203 NP_997198,EAX01036,EAX01037,BAC87217,AAH16969,AAH89425,AAI32822,AAI41803,Q5EBM0 Hs.7155 TYKi|UMP-CMPK2 hypothetical protein loc129607 protein-coding 1345522 CMR1A cardiomyopathy, restrictive 1A (autosomal dominant) 1245 GDB:701524 1352657 CMR2A cardiomyopathy, restrictive 2A (autosomal recessive) 1246 GDB:701525 1344628 CMR3A cardiomyopathy, restrictive 3A (X-linked) 1247 GDB:701526 1345833 CMT1A Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia) 1677316 1248 GDB:119785 1352144 CMT2B Charcot-Marie-Tooth neuropathy 2B 1250 GDB:604021 1348357 CMT4A Charcot-Marie-Tooth neuropathy 4A 1251 GDB:138755 1316732 CMTM1 CKLF-like MARVEL transmembrane domain containing 1 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 15778092,15147728,12782130,12477932 113540 AY174122,AY174123,AY174124,AY174125,AY174126,AY174127,AY174128,AY174129,AY174130,AY174131,AY174132,AY174133,AY174134,AY174135,AY174136,AY174137,AY174138,BC018586,BC028676,BC057852,DN992496,DQ309766,DQ355985,NM_181269,NM_181270,NM_181272,NM_181283,NM_181296,NM_052999,NM_181268,AC010542,CH471092,AF278576,AF278577,AY174118,AY174119,AY174120,AY174121,NM_181271 AAN73231,AAN73232,AAN73233,AAN73234,AAN73235,AAN73236,AAN73237,AAN73238,AAN73239,AAN73240,AAN73241,AAN73242,AAN73243,AAN73244,AAN73245,AAN73246,AAN73247,AAH28676,AAH57852,ABC33727,ABC86984,Q0QJI3,Q2PPY5,Q6PEV5,Q8IZ96,NP_851788,NP_851786,NP_851787,NP_851789,NP_851800,NP_851813,NP_443725,NP_851785,EAW83023,EAW83024,EAW83025,EAW83026,EAW83027,EAW83028,EAW83029,AAK73015,AAK73016,AAN73227,AAN73228,AAN73229,AAN73230 Hs.694746,Hs.698621,Hs.710181 GDB:11510007 CKLFH|CKLFH1|CKLFSF1|MGC71870 chemokine-like factor super family 1 protein-coding 1342693 CMTM2 CKLF-like MARVEL transmembrane domain containing 2 This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. 17334588,15896670,15778092,15489334,14702039,12782130,12477932,1278213 146225 NM_144673,AC010542,CH471092,AF479260,AK098598,AY862139,BC025354,BI830241 NP_653274,EAW83030,AAN73038,BAC05345,AAW51946,AAH25354,Q5I2A4,Q8TAZ6,ABM83762,ABW03536 Hs.195685 GDB:11510009 CKLFSF2|MGC39436 chemokine-like factor super family 2 protein-coding 1318724 CMTM3 CKLF-like MARVEL transmembrane domain containing 3 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5' UTRs, but encoding the same protein, have been identified. 17002874,15489334,15087455,14702039,12782130,12477932 123920 NM_001048251,NM_144601,NM_181554,NM_181553,AC018557,CH471092,AF479813,AK056324,AK075075,AY166714,BC023509,BC023591,BC036042,BC040227,BC047701,BI457147,CR589961,CR593528,CR594798,CR596167,CR597108,CR598427,CR599238,CR606357,CR606566,CR608574,CR611794,CR613081,CR615620,CR616563,CR618108,CR619122,CR621105,CR621723,CR625182 NP_001041716,NP_653202,NP_853532,NP_853531,EAW83031,EAW83032,EAW83033,EAW83034,EAW83035,AAN73435,BAB71150,AAN75573,AAH23509,AAH23591,AAH36042,AAH40227,AAH47701,Q96MX0 Hs.298198 GDB:11510011 BNAS2|CKLFSF3|FLJ31762|MGC51956 chemokine-like factor super family 3 protein-coding 1320683 CMTM4 CKLF-like MARVEL transmembrane domain containing 4 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. 1302596,1580863 14702039,12782130,12477932 1302596 146223 NM_178818,AC018557,CH471092,AF479814,AF521889,AF521890,AK000855,AK126493,AL157468,AW207043,BC093679,CR600851,NM_181521,CR933620 NP_852662,NP_848933,EAW83036,EAW83037,AAN73436,AAN73845,AAN73846,AAH93679,Q52M40,Q8IZR5 Hs.699299 GDB:11510013 CKLFSF4 protein-coding 1316008 CMTM5 CKLF-like MARVEL transmembrane domain containing 5 This gene belongs to the chemokine-like factor gene superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. 1580863 17908965,15489334,14702039,12782130,12477932 116173 NM_138460,NM_001037288,AL049829,CH471078,CQ893587,AF479262,AF527413,AF527948,AF527949,AK094840,AK289886,AY820135,BC013109,BC029729,AF527414 NP_612469,NP_001032365,EAW66156,EAW66157,EAW66158,EAW66159,EAW66160,CAH68715,AAN73040,AAQ08985,AAQ08986,AAQ09008,AAQ09009,BAC04432,BAF82575,AAV69870,AAH13109,Q5PY48,Q8N1V5,Q96DZ9 Hs.99272 GDB:11510015 CKLFSF5|FLJ37521 chemokine-like factor super family 5 protein-coding 1317145 CMTM6 CKLF-like MARVEL transmembrane domain containing 6 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. 1580863 15489334,14702039,12782130,12477932 54918 NM_017801,AC104306,CH471055,AF116694,AF479261,AK000403,AK172793,BC002797,BC009187,BC027472,BC042995,CR457231 NP_060271,EAW64429,EAW64430,AAF71114,AAN73039,BAA91141,AAH02797,AAH27472,CAG33512,Q6IAC4,Q8N645,Q9NX76,Q9P1E2 Hs.380627,Hs.440494 GDB:11510017 CKLFSF6|FLJ20396|PRO2219 protein-coding 1313855 CMTM7 CKLF-like MARVEL transmembrane domain containing 7 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. The protein encoded by this gene is highly expressed in leukocytes, but its exact function is unknown. Alternatively spliced transcript variants encoding different isoforms have been identified. 15489334,14702039,12782130,12477932 112616 NM_138410,NM_181472,AC098475,CH471055,AF479263,AK055554,AL832450,AY174113,BC010116,CR590292,CR594621,CR599506,CR604270,CR614533,DQ132881 NP_612419,NP_852137,EAW64424,EAW64425,EAW64426,EAW64427,EAW64428,AAN73041,CAD38626,AAO44955,AAH10116,AAZ57435,Q5VLK1,Q8NDQ0,Q96FZ5 Hs.440494 GDB:11510019 CKLFSF7|FLJ30992 chemokine-like factor super family 7 protein-coding 1351246 CMTM8 CKLF-like MARVEL transmembrane domain containing 8 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. 1580863 17681841,17149703,16263120,15489334,12782130,12477932 152189 NM_178868,AC097639,AC103558,CH471055,AF474370,AY598783,BC041390 NP_849199,EAW64423,AAN73034,AAT11020,AAH41390,Q8IZV2 Hs.154986 GDB:11510021 CKLFSF8|CKLFSF8-V2 protein-coding 1353077 CMTX2 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) 1253 GDB:128311 1343738 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 2245309 1254 GDB:128151 1321357 CMYA5 cardiomyopathy associated 5 18344630,17872945,17353931,16407236,14702039,14688250,12477932 202333 AC008482,AC008496,AC026779,AC109488,CH471084,AF177292,AF533705,AK092699,AK096453,AK123466,AL359338,AL831966,AL831968,AL831986,AL832021,AL832347,AL832368,AL832376,AL834252,BC020856,NM_153610,BC022422,BC022430,BC029434,BC046215,BC062664,BC063134,BC111529,BC111530,BX647452,BX647628,BX647646 NP_705838,EAW95839,AAD55265,AAQ09018,BAC03950,CAD38607,CAD38609,CAD91143,CAH10406,CAD91158,CAH10402,CAD38928,AAH20856,AAH22422,AAH62664,AAH63134,AAI11530,AAI11531,Q8N3K9 Hs.482625 GDB:11505802 C5orf10|DKFZp451G182|DKFZp451G223|DTNBP2|SPRYD2|TRIM76 protein-coding 1352367 CNA1 cornea plana 1 (autosomal dominant) 1255 GDB:252119 1603547 CNBD1 cyclic nucleotide binding domain containing 1 14702039,12477932 168975 NM_173538,AC011146,AC025089,AC025522,AC090572,AC093333,AC100799,CH471060,AK093121,BC117326,BC117328 NP_775809,EAW91648,BAC04062,AAI17327,AAI17329,Q8NA66 Hs.246284 FLJ35802 protein-coding 733498 CNBP CCHC-type zinc finger, nucleic acid binding protein This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. 17353931,2562787,17672918,17327219,17068784,16624843,16376058,16344560,16341674,15652222,15489334,15342556,15261229,14702039,12857921,12477932,11486088,9921867,7896269,7590281,2249857 7555 NM_001127192,NM_001127193,NM_001127194,NM_001127195,NM_001127196,AC108673,AC135587,AF388525,AF388526,AY329622,CH471052,NM_003418,CR606309,CR608484,CR608775,CR610184,CR614312,CR615983,CR616385,CR618662,CR622873,CR625456,CR626515,DA606481,DB027227,DQ091187,DQ092366,DQ092367,M28372,U19765,AK021693,AK054592,AK292119,AK314380,AY436367,BC000288,BC014911,BC093058,BM786378,BP267181,BT019613,BU616793,CR592970,CR594065,CR596443,CR597317,CR599232,CR602369 NP_003409,NP_001120664,NP_001120665,NP_001120666,NP_001120667,NP_001120668,AAR89462,EAW79271,EAW79272,EAW79273,EAW79274,EAW79275,EAW79276,EAW79277,AAY89856,AAY96754,AAY96755,AAA61975,P62633,Q4JGY0,Q4JGY1,Q5U0E9,Q6T598,AAA91782,BAB70769,BAF84808,BAG37006,AAR11855,AAH00288,AAH14911,AAH93058,AAV38419 Hs.518249,Hs.592711,Hs.709478 GDB:125342 CNBP1|DM2|FLJ11631|PROMM|RNF163|ZCCHC22|ZNF9 cellular nucleic acid binding protein protein-coding 1354443 CNC Carney complex, multiple neoplasia and lentiginosis 8609225 1257 GDB:1313478 1344598 CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. 737633,1580863 17601992,17601991,17205963,17121880,16965804,16335952,16046297,15489334,14560319,12975309,12477932,12473676,11329013,8889548,7116644,6616870,16189514 737633 84735 NM_032649,AC009704,AC116904,AX139747,CH471117,AJ417564,AK098369,AK131263,AK289916,AY358756,BC004271,BC110295,BC113512,BC117122,BG202268,BI597577,BM662490,CR610360,H41544 NP_116038,CAC40015,EAW66559,EAW66560,EAW66561,EAW66562,CAD10388,BAD18441,BAF82605,AAQ89116,AAI10296,AAI13513,AAI17123,Q6ZND4,Q96KN2 Hs.400613 CN1|CPGL2|HsT2308|MGC102737|MGC10825|MGC142072 protein-coding 1314094 CNDP2 CNDP dipeptidase 2 (metallopeptidase M20 family) CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM] 737633,1580863 15489334,14702039,12477932,12473676,16189514 737633 55748 NM_018235,AC009704,CH471117,AF258592,AJ347717,AK001262,AK001692,AK001983,AK024471,AK097155,BC003176,CR590069,BC001375,CR593876,CR615933 NP_060705,EAW66550,EAW66551,EAW66552,EAW66553,EAW66554,EAW66555,EAW66556,EAW66557,EAW66558,AAG23795,CAC69883,BAA91587,BAA91840,BAA92018,BAB15761,AAH01375,AAH03176,Q8WY59,Q96KP4,Q9H7K8,Q9NUV1,Q9NW02 Hs.149185 CN2|CPGL|FLJ10830|HsT2298|PEPA protein-coding 1350274 CNFN cornifelin 1580863 15147942,15489334,12477932,9115270 84518 NM_032488,AC011497,CH471126,AB049591,AK312080,BC101197,BC101198 NP_115877,EAW57134,BAB40656,BAG35016,AAI01198,AAI01199,Q9BYD5 Hs.148590 PLAC8L2 protein-coding 730948 CNGA1 cyclic nucleotide gated channel alpha 1 1300380,1580863 7479749,16382102,15713832,15570217,12693957,12467592,12432397,12388767,12362048,8889549,7683629,7532814,1379636,1372959,1372902 1300380 1259 NM_000087,AC107068,CH471069,S76062,AK292021,M84741,S42457,W89170,W93472,X64802 NP_000078,AAY40919,EAW93048,EAW93049,AAD14206,BAF84710,AAA52010,AAB22778,CAA46027,P29973,Q08124,Q4W5E3,AAI40400 Hs.1323 GDB:127557 CNCG|CNCG1|CNG1|RCNC1|RCNCa|RCNCalpha protein-coding 736824 CNGA2 cyclic nucleotide gated channel alpha 2 1580863 16533895,16382102,15489334,14618336,14604981,12626507,12477932,9539801,9512030,7532814 1260 NM_005140,AF002992,CH471169,S76067,AK128186,BC126302,BC126304 NP_005131,EAW99409,AAD14207,AAI26303,AAI26305,Q16280 Hs.447360 GDB:127558 CNCA|CNCA1|CNG2|FLJ46312|OCNC1|OCNCALPHA|OCNCa protein-coding 733295 CNGA3 cyclic nucleotide gated channel alpha 3 This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. 734792,1580863 9517456,9662398,17693388,17286855,17018579,16961972,16382102,16319819,15815621,15743887,15712225,15489334,15134637,15024024,14757870,12477932,12432397,11536077,10888875,9721202,9158143,7532814 734792 1261 NM_001298,BC096299,BC096300,DQ067460,DQ426863,DR002103,NM_001079878,AC092675,CH471127,S76069,AF065314,AK131300,BC096298 AAH96299,AAH96300,Q16281,Q4VAP7,Q6ZNA7,NP_001289,NP_001073347,AAY24181,EAX01911,AAD14208,AAC17440,BAD18468,AAH96298 Hs.234785 GDB:434398 ACHM2|CCNC1|CCNCa|CCNCalpha|CNCG3|CNG3 protein-coding 1603715 CNGA4 cyclic nucleotide gated channel alpha 4 CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM] 16382102,14702039,12649326,12477932,11764791,11739959,9539801 1262 NM_001037329,AC022762,CH471064,AK122736,BC040277,BC106935,BC106936 NP_001032406,EAW68736,AAH40277,Q3B859,Q8IV77 Hs.434618 GDB:434396 CNCA2|CNG5|CNGB2|MGC126168|MGC126169|OCNC2|OCNCBETA|OCNCb protein-coding 732601 CNGB1 cyclic nucleotide gated channel beta 1 734793 7682292,16382102,15557452,12048242,11641407,11379879,11074001,10466724,8766832,7590744,7526403,1821816 734793 1258 AAB32607 NM_001297,AC010543,CH471092,L15296,L15297,AF042498,CR626336,U18945,U58837 NP_001288,EAW82957,EAW82958,AAA65620,AAA65619,AAC04830,AAA91633,AAB63387,AAB32607,O43636,Q13059,Q14028,Q9UMG2,AAI40365,AAI56723 Hs.147062 GDB:434397 CNCG2|CNCG3L|CNGB1B|GAR1|GARP|RCNC2|RCNCb|RCNCbeta protein-coding 1352344 CNGB3 cyclic nucleotide gated channel beta 3 1600870,1580863 10888875,17652762,17651254,17265047,17018579,16382102,16379026,16319819,15712225,15657609,15223812,15161866,15134637,14757870,12815043,12730238,10958649,10330355,1347967 1600870 54714 NM_019098,AC013751,AC090572,CH471060,AF228520,AF272900,BX118844 NP_061971,EAW91644,EAW91645,EAW91646,AAF80179,AAF86274,Q9NQW8 Hs.154433 GDB:132458,GDB:9993286 ACHM1|ACHM3|RMCH|RMCH1 protein-coding 1323800 CNIH cornichon homolog (Drosophila) 1580863 10209299,17607000,16303743,15489334,12975309,12477932,11042152 10175 NM_005776,AL359792,CH471061,CQ782718,AF070654,AF104398,AK074781,AY358635,BC103741,BG503618,BQ233425,BQ937490,BX248284,CR596676,CR615588,CR616723 EAW80635,NP_005767,EAW80636,EAW80637,CAF85952,AAD20960,AAC98388,AAQ88998,AAI03742,CAD62612,O95406,Q86TY6 Hs.294603 CNIH1|CNIL|MGC117156|TGAM77 protein-coding 1352659 CNIH2 cornichon homolog 2 (Drosophila) 737633,1580863 17229890,15489334,12477932 737633 254263 NM_182553,AP001107,CH471076,AY726585,BC047953,CR594991,CR610128 NP_872359,EAW74508,AAH47953,Q6PI25 Hs.437072 Cnil|MGC50896 protein-coding 1343893 CNIH3 cornichon homolog 3 (Drosophila) 1580863 16710414,15489334,14702039,12477932,9110174,8619474 149111 Q8TBE1 NM_152495,AC096537,AL596330,CH471098,AF070524,AK096312,BC022780,CR595048 NP_689708,CAH73437,EAW69732,BAC04760,AAH22780,Q8TBE1 Hs.28659 FLJ38993 protein-coding 1606011 CNIH4 cornichon homolog 4 (Drosophila) 17353931,11256614,16381901,15489336,15489334,12477932,11230166,11076863,11042152,9373149,8125298 29097 AC099790,NM_014184,CH471098,CS072304,AF161512,AK222634,AK289973,AL136930,BC000573,BC039037,BX649076,CR590797 NP_054903,EAW69717,EAW69718,EAW69719,CAI93442,AAF29127,BAD96354,BAF82662,CAB66864,AAH00573,Q0JSY5,Q0JTY3,Q53HE6,Q9P003,CAL37844,CAL38029,CAL38379,ABM82827,ABM86013 Hs.445890 HSPC163 protein-coding 1323565 CNKSR1 connector enhancer of kinase suppressor of Ras 1 This gene is a necessary element in receptor tyrosine kinase pathways, possibly as a tyrosine phosphorylation target. It is involved in regulation of RAF in the MAPK pathway and may also play a role in a MAPK-independent pathway. 1580863 14749388,9814705,15075335,16964243,16344560,16289034,15845549,15753034,15489334,14702039,12477932,10557308,9373149,8125298,16189514,14724641,12105213 10256 NM_006314,NR_023345,AL355877,AL391650,CH471059,AB209335,AF100153,AK001900,AK222817,AK222904,AK292646,BC011604,BC012797,BT006900,CR624234,DA445069,DA868484,DR159101 NP_006305,EAX07840,EAX07841,EAX07842,BAD92572,AAC80558,BAD96537,BAD96624,BAF85335,AAH11604,AAH12797,AAP35546,Q53GW4,Q59FX4,Q5VY66,Q5VY67,Q969H4,ABM83167,ABM86367 Hs.16232 CNK|CNK1|KSR protein-coding 1350323 CNKSR2 connector enhancer of kinase suppressor of Ras 2 1580863 17353931,18287031,15772651,15489334,14702039,14597674,12477932,10048485,12390249,10207009 22866 NM_014927,AL772392,AL807781,AL928874,CH471074,AB020709,AF418269,AF418270,AK056549,AK124258,BC126121 NP_055742,CAI40765,CAI40766,EAW98976,EAW98977,EAW98978,BAA74925,AAL60502,AAL60503,AAI26122,Q5JPK5,Q8WXI2 Hs.555917 CNK2|KIAA0902|KSR2 protein-coding 1316799 CNKSR3 CNKSR family member 3 14702039,12477932 154043 NM_173515,AL357075,CH471051,AK055911,AY328891,AY328892,AY328893,AY328894,BC060761 NP_775786,CAI14543,CAI14544,CAI14545,EAW47699,BAB71044,AAQ92306,AAQ92307,AAQ92308,AAQ92309,AAH60761,Q6P9H4 Hs.16064 FLJ31349|MAGI1|RP11-486M3.1 protein-coding 731921 CNN1 calponin 1, basic, smooth muscle 1580863 17556051,17550897,15489334,15206927,12606518,12480535,12477932,12033495,11920541,9645345,9373149,9332369,9312127,9049805,9001224,8864837,8526917,8125298,2455687,2161834,16189514,14550641 1264 NM_001299,AC008481,CH471106,D85611,AK223234,BC022015,BC036307,CR615873,CR620483,D17408,D86058,S80560,U37019 NP_001290,EAW84228,EAW84229,BAA19538,BAD96954,AAH22015,AAH36307,BAA04231,BAA12983,AAB35751,AAC51780,P51911,Q53FP8 Hs.465929 GDB:1313703 SMCC|Sm-Calp protein-coding 1350375 CNN2 calponin 2 The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Two transcript variants encoding different isoforms have been found for this gene. 1580863 8889829,14702039,12388067,12665801,10830953,9373149,9049805,9001224,8889548,8125298 1265 CR541831,CR592088,CR592852,CR598250,CR602855,CR603928,NM_004368,NM_201277,AC004528,AC011558,CH471139,AK024835,AK057960,AK093630,AK126391,AK222924,AY927514,BC141818,BC141833,BM976651,BQ876824,BQ919304,BU844400,CR541810,CR606476,CR607371,CR611249,CR615042,CR616871,CR618608,D83735,D86059 CAG46609,CAG46630,NP_004359,NP_958434,EAW69565,EAW69566,EAW69567,EAW69568,EAW69569,EAW69570,BAD96644,AAI41819,AAI41834,BAA12090,BAA20887,Q53GK7,Q6FHC3,Q6FHE4,Q99439 Hs.651923 GDB:3789433 protein-coding 731963 CNN3 calponin 3, acidic This gene encodes a protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. 1580863 17825283,17081983,16710414,15489334,15206927,15146197,12477932,12033495,11591653,10457177,8889548,8526917 1266 NM_001839,AC093429,AC105942,AL359554,CH471097,AK312370,BC025372,BM669529,BU149686,BU608403,CA944820,CN418286,CR541848,CR618809,CR619086,CR622382,DC422152,DR157009,S80562 NP_001830,CAC36092,CAC36093,EAW73029,BAG35288,AAH25372,CAG46646,AAB35752,Q15417,Q6FHA7,Q9BWY6,ABM83939,ABM87257 Hs.706780 GDB:1313706 protein-coding 1318672 CNNM1 cyclin M1 16344560,14723793,14702039,12657465,12477932 26507 NM_020348,AL391684,CH471066,AF169226,AK056194,AL137536,BC098103,BC098134,BC098279,BC098307,BI868774,DA326933,DA758649,DB067736 NP_065081,CAH73858,EAW49870,EAW49871,AAF86357,CAB70798,AAH98103,AAH98134,AAH98279,AAH98307,Q9NRU3 Hs.274579 GDB:11508340 ACDP1|FLJ31632 protein-coding 1317777 CNNM2 cyclin M2 14702039,12657465,12477932 54805 NM_017649,NM_199076,NM_199077,AL139817,AL356608,CH471066,AF216962,AK000071,AK023066,AK023479,AK090785,BC021222 NP_060119,NP_951058,NP_951059,CAI40076,CAI40077,CAI16511,CAI16512,CAI16513,EAW49659,EAW49660,EAW49661,EAW49662,EAW49663,EAW49664,AAF86374,BAA90926,BAB14386,BAB14585,AAH21222,Q9H8M5 Hs.657970,Hs.696431 GDB:11508342 ACDP2 protein-coding 1317403 CNNM3 cyclin M3 17353931,16189514,14702039,12657465,12477932 26505 NM_017623,NM_199078,AC092636,CH471207,AF216965,AK000025,AK126847,AK128698,BC007199,BC018604,BC022944,BC037272,BE465992,BE676454,CR749702 NP_060093,NP_951060,AAY14964,EAW71334,EAW71335,EAW71336,EAW71337,AAF86377,BAA90891,AAH07199,AAH22944,AAH37272,CAH18480,Q68CV4,Q8NE01 Hs.706787 GDB:11508344 ACDP3|DKFZp434I1016|FLJ20018 protein-coding 1313679 CNNM4 cyclin M4 14702039,12657465,12477932,10997877,17353931 26504 NM_020184,AC092636,CH471207,AB046812,AF202777,AK022833,AL833905,BC063295 NP_064569,AAY14963,EAW71340,BAB13418,AAF86370,BAB14266,CAD38761,AAH63295,Q6P4Q7,Q8NDH5 Hs.656229 GDB:11508346 ACDP4|FLJ42791|KIAA1592 protein-coding 1602324 CNO cappuccino homolog (mouse) This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. 15489334,15102850,14702039,12923531,12576321,12477932,12191018,11110696 55330 NM_018366,AC093323,CH471131,AF085849,AI679712,AK002092,BC001818,BC009890,BC067815,CR598245,CR599774,CR603319,CR613059,CR625701,CR626399 NP_060836,EAW82382,BAA92080,AAH67815,Q6NVY6,Q9NUP1 Hs.7570 FLJ11230 protein-coding 1602129 CNOT1 CCR4-NOT transcription complex, subunit 1 17353931,16778766,14702039,12477932,11972353,11733989,10637334,10231032,8889548 23019 NM_206999,AC009118,AC010287,AB023224,AF110778,AJ346264,AK056927,AK075125,AK092885,AL117492,AL832769,AL833549,BC000779,BC011861,BC024317,BC027969,BC040523,BM968443,NM_016284,BX537840,BX647815,CB162525,CR749237,EF553522 NP_057368,NP_996882,BAA76851,AAF14861,CAB55960,AAH00779,AAH24317,AAH40523,ABQ66268,A5YKK6,CAD97851,CAH18093 Hs.460923,Hs.655689 GDB:1391808 AD-005|CDC39|DKFZp686E0722|DKFZp686O168|FLJ36492|FLJ90644|KIAA1007|NOT1|NOT1H protein-coding 1343563 CNOT10 CCR4-NOT transcription complex, subunit 10 1580863 14702039,12477932,1348029,17353931,16730941 25904 NM_015442,AC138972,AC139452,CH471055,Z14236,AK021695,AK022576,AK022952,AK023227,AK027026,AL117639,BC002928,BC002931,BC006382 NP_056257,EAW64434,EAW64435,EAW64436,CAA78605,BAB13876,BAB14108,BAB14327,BAB14478,BAB15629,CAB56027,AAH02928,AAH02931,Q9H9A5,ABM83821,ABM87142 Hs.444851 DKFZP434K115|FLJ12890|FLJ13165 protein-coding 1323253 CNOT2 CCR4-NOT transcription complex, subunit 2 1580863 10637334,16712523,16344560,16189514,16039607,15489334,14707134,14702039,12477932,11042152 4848 CR626758,DA445519,NM_014515,AC025569,AC092881,CH471054,AF044215,AF113226,AF161480,AF180473,AK000662,AK095789,AL137674,AY395696,BC002597,BC011826,BX641116,CR599299 Q6TKS8,Q9NZN8,ABZ92477,NP_055330,EAW97245,EAW97246,EAW97247,EAW97248,EAW97249,AAQ13426,AAG39297,AAF29095,AAF29827,BAA91313,CAB70869,AAR32245,AAH02597,AAH11826,CAE46054 Hs.133350 GDB:1391809 CDC36|HSPC131|NOT2|NOT2H protein-coding 1312407 CNOT3 CCR4-NOT transcription complex, subunit 3 1580863 12207886,16189514,15752756,15489334,15302935,12477932,10941842,10637334,9734811 4849 AF211967,AI660119,AK160386,AL133647,BC016474,BQ439042,BU859614,CR591690,NM_014516,AC012314,CH471135,AB014591,AF180474 AAF29828,BAD18729,CAB63766,AAH16474,O75175,Q6ZMJ6,NP_055331,EAW72192,EAW72193,EAW72194,BAA31666 Hs.343571 GDB:1391810 KIAA0691|LENG2|NOT3|NOT3H protein-coding 1321153 CNOT4 CCR4-NOT transcription complex, subunit 4 15489334,15001359,14702039,12477932,11823428,11087754,10637334 4850 NM_013316,NM_001008225,AC009331,AC083871,CH236950,CH471070,AF091094,AF180475,AK074493,AK074671,AL389980,AL519669,BC035590,U71267,U71268 NP_037448,NP_001008226,EAW83849,EAW83850,EAW83851,EAW83852,EAW83853,EAW83854,AAC72963,AAF29829,BAC11125,CAB97536,AAH35590,AAD00179,AAD00180,O95628 Hs.490224 GDB:1391811 CLONE243|NOT4|NOT4H protein-coding 1351119 CNOT5 CCR4-NOT transcription complex, subunit 5 10880468 60403 GDB:11508650 1347023 CNOT6 CCR4-NOT transcription complex, subunit 6 The protein encoded by this gene is a subunit of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substates. 16341674,15314026,14702039,12477932,11889047,11747467,10637334,10574462,8586417 57472 NM_015455,AC034213,AC122714,AJ426335,CH471165,AB033020,AK023599,AL110144,BC015331,BC027476,BC073142,BC114958,BC152469,BF940524,BM769589,BQ232180,CR601971,CR617731,D20789 NP_056270,CAD32417,EAW53752,EAW53753,EAW53754,BAA86508,AAH27476,AAI52470,Q8TAJ0,Q9ULM6 Hs.654984 GDB:11509037 CCR4|KIAA1194 protein-coding 1319296 CNOT6L CCR4-NOT transcription complex, subunit 6-like 17353931,17452450,16344560,14702039 246175 NM_144571,AC104701,CH471057,AK027214,AK058188,AK124855,AL133112,CR603394,DA043791,DB454180 NP_653172,EAX05818,EAX05819,BAB71707,CAB61415,Q96LI5,AAI52817 Hs.694990 GDB:11505804 CCR4b protein-coding 1313268 CNOT7 CCR4-NOT transcription complex, subunit 7 The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The protein has both mouse and yeast orthologs. Alternate splicing of this gene results in two transcript variants encoding different isoforms. 633241,1580863 9820826,18084094,17264152,16344560,15489334,14702039,12845644,12477932,10637334,9373149,8889549,8125298,7791755,1538749,10602502,11136725,9712883,16189514,11429045 633241 29883 NM_013354,NM_054026,AC091050,CH471080,AA134869,AA165288,AF086915,AK001209,AK021808,AK023466,AK225893,AL833642,AW448990,BC007315,BC060852,BC070187,BM468592,BT006685,DA752620,L46722 NP_037486,NP_473367,EAW63820,EAW63821,EAW63822,EAW63823,AAP97145,AAH07315,AAH60852,AAH70187,AAP35331,AAF01500,Q96IQ6,Q9UIV1 Hs.598387,Hs.645009 GDB:11500360 CAF1|hCAF-1 protein-coding 1314995 CNOT8 CCR4-NOT transcription complex, subunit 8 1580863 10637334,17353931,16189514,10036195,9820826,11256614,17178784,16381901,15489336,15489334,14702039,12771185,12477932,11230166,11136725,11076863 9337 AF053318,AF087844,AF180476,AK025358,AL122045,BC017366,BC093025,BT006857,BX647124,CR605052,CR611638,NM_004779,AC112169,CH471062 EAW61625,EAW61626,EAW61627,EAW61628,AAD02685,AAP97157,AAF29830,BAB15119,CAB59181,AAH17366,AAP35503,Q0JSJ2,Q9UFF9,CAL38522,NP_004770 Hs.26703 GDB:11500973 CAF1|CALIF|POP2|hCAF1 protein-coding 736298 CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 1580863 8392017,1322358,12379507,18289148,17964117,17150526,17081065,17010574,16891421,16389193,16343930,16103231,15713463,15502338,15489334,14702039,12947117,12643545,12477932,12452325,11993850,11842207,11156964,10646504,9268698,8921398,6328143,2995854,2835044,2164018,2161933,1385234,1360194,1315529,16189514,17306456 1267 NM_033133,AC125257,CH471152,D13146,S46843,S46849,S50013,S50017,AK026876,AK097833,AK098048,AK098384,AK124861,BC001362,BC006392,BC011046,BC028040,BC045561,CB988051,CR607967,CR610695,M19650 NP_149124,EAW60785,EAW60786,EAW60787,BAA02435,BAA39694,AAB23928,AAB24298,BAC85969,AAH01362,AAH06392,AAH11046,AAH28040,AAA35704,P09543,Q6ZV94,ABM83501,ABM86717 Hs.273621 GDB:128029 CNP1 protein-coding 1603862 CNPY1 canopy 1 homolog (zebrafish) 16488878,14702039,12690205,12477932 285888 AC008060,AC009403,CH236954,NM_001103176,AK094445,BC105732,BC105733,BC105734,BC107598 NP_001096646,EAL23910,AAI05733,AAI05734,AAI05735,AAI07599,Q3B7I2 Hs.710640 MGC125606 protein-coding 1350709 CNPY2 canopy 2 homolog (zebrafish) 1580863 12826659,10072769,15489334,12975309,12477932 10330 NM_014255,AC073896,CH471054,AB015631,AF186113,AY032624,AY359102,BC001027,BC065015,CR596106,CR603286,CR625337 NP_055070,EAW96925,EAW96926,EAW96927,BAA76498,AAF01431,AAK38148,AAQ89460,AAH01027,AAH65015,Q9Y2B0 Hs.8752 GDB:9956362 HP10390|MSAP|TMEM4|ZSIG9 protein-coding 1319430 CNPY3 canopy 3 homolog (zebrafish) PRAT4A is associated with the immature form of TLR4 (MIM 603030) and regulates its cell surface expression (Wakabayashi et al., 2006 [PubMed 16849487]).[supplied by OMIM] 16849487,14702039,12975309,12754519,12477932,9225980 10695 NM_006586,AL035587,CH471081,AF161347,AK090425,AK124196,AY358960,BC004423,BC008133,BC008898,BC008961,BC011767,BC022093,CR593913,CR603815,CR605378,CR605951,CR606170,CR608091,CR614568,CR617058,CR620344,CR620849,CR625170,CR626260,U80744 NP_006577,CAB75301,EAX04111,EAX04112,EAX04113,EAX04114,EAX04115,EAX04116,EAX04117,EAX04118,EAX04119,EAX04120,EAX04121,EAX04122,AAF28907,BAC03406,AAQ89319,AAH04423,AAH08133,AAH08898,AAH08961,AAH22093,AAB91442,Q9BT09,ABZ92293 Hs.414099 GDB:11508605 CAG4A|ERDA5|PRAT4A|TNRC5 protein-coding 1606674 CNPY4 canopy 4 homolog (zebrafish) 16338228,16303743,12975309,12690205,12477932 245812 NM_152755,AC073842,CH236956,CS051459,AK075537,AY359100,BC019903,BC032339 NP_689968,EAL23850,CAI72221,BAC11680,AAQ89458,AAH19903,AAH32339,Q8N129,ABM82519,ABW03384 Hs.632293 MGC40499|PRAT4B protein-coding 735525 CNR1 cannabinoid receptor 1 (brain) This gene encodes a protein that is one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the family of guanine-nucleotide-binding protein (G-protein) coupled receptors which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Two transcript variants encoding different isoforms have been described for this gene. 1358448,1358449,1580863,1626329,1626325,1626328,1626326 1718258,18375449,18354002,18213623,18186055,18179391,18174385,18156315,18092149,18064064,17978319,17942526,17923791,17881126,17873324,17712725,17683024,17678969,17669634,17655760,17595161,17533584,17509535,17508995,17449448,17405839,17384224,17370106,17292652,17284627,17270342,17160086,17074588,17068343,17065342,17041005,17015679,16962033,16818376,16788767,16741937,16715087,16712507,16634642,16623851,16365309,16314880,16263116,16204352,15952782,15927811,15728830,15668727,15657045,15620723,15562018,15489334,15472222,15289816,15108190,14966476,16917946,14966196,14755457,14749627,14714115,14628192,14580383,14574404,12970790,12920192,12767117,12752773,12690115,12511587,12497582,12477932,12435806,12237474,12153574,12095632,12082570,12060783,11894096,11860478,11841893,11803524,11727770,11353438,11324942,11214319,11168387,11140838,10762343,10454705,8889548,7876112,2263478,2165569,1931832,15688035 1358448,1358449,1626329,1626325,1626328,1626326 1268 NM_033181,AL136096,AY011601,AY225225,CH471051,U73304,AF107262,AY766182,AY995204,NM_016083,BC074811,BC074812,BC095513,BC100968,BC100969,BC100970,BC100971,BM682178,BX538191,DQ067455,X54937,X81120,X81121 NP_057167,NP_149421,CAB96726,CAI19916,AAG37765,AAO67710,EAW48574,EAW48575,EAW48576,AAB18200,AAD34320,AAV35030,AAY21179,AAH74811,AAH74812,AAH95513,AAI00969,AAI00970,AAI00971,AAI00972,AAY68486,CAA38699,CAA57018,CAA57019,P21554,Q506J9,Q5JVL5,Q9BYY6 Hs.75110,Hs.709067 GDB:127354 CANN6|CB-R|CB1|CB1A|CB1K5|CNR protein-coding 732246 CNR2 cannabinoid receptor 2 (macrophage) The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. 1580863 8679694,7556170,18286196,18221003,18092149,18068305,17923791,17678969,17660390,17613768,17390085,17334644,17327359,17223358,17189959,17074588,17068343,17015679,16624285,16563625,16547349,16513651,16503355,16406364,16204352,16139274,15927811,15845647,15765409,15728830,15472222,15456404,15266552,15039279,14966196,14764676,14657172,12799277,12711605,12663043,12511587,12477932,12417328,12153574,12095632,11727770,10051546,7689702 1269 BC095545,X74328,NM_001841,AJ430064,AL590609,AY242132,CH471134,AJ430063,AM156854,AM156855,AM156856,BC069722,BC074767 AAH74767,AAH95545,CAA52376,P34972,Q4VBK8,Q5JRH7,Q6B0G7,Q6NSY0,NP_001832,CAD22549,CAI14799,AAO92299,EAW95099,EAW95100,CAD22548,CAJ42137,CAJ42138,CAJ42139,AAH69722 Hs.73037 GDB:228958 CB2|CX5 protein-coding 1318105 CNRIP1 cannabinoid receptor interacting protein 1 This gene encodes a G-protein coupled receptor which interacts with the C-terminal tail of cannabinoid receptor 1. This receptor plays a role in synaptic plasticity, analgesia, appetite, and neuroprotection. Two transcript variants encoding different isoforms have been described for this gene. 737633 16696853,17895407,16344560,15815621,15489334,12477932 737633 25927 NM_015463,NM_001111101,AC015969,CH471053,AL110235,AY144596,BC011535,BC035125,CR591266,CR596246,CR613301,CR619915,CR620224,DA523617 NP_056278,NP_001104571,AAX93120,EAW99877,CAB53688,AAN41658,AAH11535,AAH35125,Q49AN4,Q96F85 Hs.212885 C2orf32|CRIP1|DKFZp566K1924 protein-coding 1603365 CNTD1 cyclin N-terminal domain containing 1 14702039,12477932 124817 NM_173478,AC016889,CH471152,AK097456,AL833052,BC026187 NP_775749,EAW60886,EAW60887,BAC05060,CAH56287,AAH26187,Q8N815 Hs.592131 CNTD|FLJ40137 protein-coding 1602462 CNTD2 cyclin N-terminal domain containing 2 14702039 79935 NM_024877,AC118344,CH471126,AK023327 NP_079153,EAW56939,EAW56940,BAB14529,Q9H8S5 Hs.631603 FLJ13265 protein-coding 734034 CNTF ciliary neurotrophic factor The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. In addition to the predominant monocistronic transcript originating from this locus, the gene is also co-transcribed with the upstream ZFP91 gene. Co-transcription from the two loci results in a transcript that contains a complete coding region for the zinc finger protein but lacks a complete coding region for ciliary neurotrophic factor. 734795,734797,734796,1358522,1580863,1626112,1626113,1626114,1626122 1714745,17353931,1840538,18303965,18282590,18203754,17651970,17563726,17272411,17192435,16969278,16797081,16696750,16210701,16181490,15843428,15489334,15474906,15180291,15047605,14747836,14715713,12890930,12643274,12477932,12470191,12404108,11951178,11890844,11857064,11849142,11464862,10812968,10391209,9236223,8627290,8449041,8075647,7852996,7810882,7796798,7753485,7597043,2294592,1915374,1883844,1861138,1281789 734795,734797,734796,1358522,1626112,1626113,1626114,1626122 1270 NM_000614,AP001350,AP003557,CH471076,X55889,X55890,X60477,X60478,X60542,BC068030,BC069167,BC074963,BC074964,S72921 NP_000605,EAW73819,CAA39374,CAA43009,CAA43032,AAH68030,AAH69167,AAH74963,AAH74964,AAB31818,P26441,Q6NTB0 Hs.632114 GDB:125919 HCNTF protein-coding 1344115 CNTFR ciliary neurotrophic factor receptor This gene encodes a hematopoeitin/interferon-class receptor belonging to the cytokine superfamily of receptors. The encoded gene product represents the CNTF-specific alpha subunit of a heterotrimer forming the CNTF receptor complex, which also includes LIFR and gp130. The receptor is attached to the membrane by a glycosyl-phosphatidylinositol linkage and contains an immunoglobulin-like C2-type domain and a fibronectin type-III domain. Signal transduction requires that CNTF bind first to this alpha component, which permits the recruitment of gp130 and LIFR beta to form the tripartite receptor complex. Signal transduction stimulates gene expression, cell survival or differentiation in a variety of neuronal cell types. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. 1580863 7585948,15272019,1648265,18307269,18203754,17436251,17272411,16782820,16189514,15489334,12807897,12707266,12477932,11943154,11464862,11294841,11285233,10966616,10812968,9559542,8627290,8244400,7810882,7774913 1271 L38020,L38021,L38022,L38023,L38024,L38025,AK127444,BC001492,BI545014,BT019824,CR610538,CR615036,CR615362,CR621924,CR624688,M73238,NM_001842,NM_147164,AL160270,CH471071 EAW58445,EAW58446,EAW58447,EAW58448,AAA91337,AAH01492,AAV38627,AAA35707,P26992,Q5T8H6,Q5U050,ABM86381,ABW03790,NP_001833,NP_671693,CAI13159,CAI13160 Hs.129966 GDB:134652 MGC1774 protein-coding 1317678 CNTLN centlein, centrosomal protein 14702039,15164053,16344560,18086554 54875 NM_001114395,AL133214,AL162725,AL354711,AL354738,AL590377,CH471071,AA492222,AA828123,AK000283,AK021596,AK098502,AW136479,AW590957,BG575335,BU075047,BU162362,BX647069,NM_017738,CR623494,DB280003 NP_060208,NP_001107867,EAW58664,BAA91052,BAB13850,BAC05319,Q9NXG0,AAI56252 Hs.435381 C9orf101|C9orf39|FLJ20276|FLJ25636|RP11-340N12.1|bA340N12.1 chromosome 9 open reading frame 39 protein-coding 732231 CNTN1 contactin 1 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 631992,734798,1580863 7959734,16510572,16335952,16078236,15489334,15146195,14761957,14676309,14592966,14567914,12700241,12477932,12139915,11567041,11556889,10595523,10103110,9651216,9584610,9335257,9081628,9049255,8586965,8164510,7628014,7595520,1838307 631992,734798 1272 NM_001843,NM_175038,AC015540,AC016144,AC024900,AC074030,AC129108,CH471111,AK289544,AK289698,BC036569,CR601551,U07819,U07820,Z21488 NP_001834,NP_778203,EAW57822,EAW57823,EAW57824,BAF82233,BAF82387,AAH36569,AAA67920,AAA67921,CAA79696,Q12860 Hs.143434 GDB:287483 F3|GP135 protein-coding 734311 CNTN2 contactin 2 (axonal) The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. It may also be involved in glial tumorigenesis and may provide a potential target for therapeutic intervention. 631992,734799,1580863 8425542,17766378,16710414,16335952,15340161,14991578,14702039,12975355,12477932,12139915,11280781,10830169,9403076,9032250,8663515,8586965,8586412,8344273,8307567,8242070,3272160,1838307,1720120,14697242,9837910 631992,734799 6900 NM_005076,AL583832,CH471067,X84419,X84420,X92681,AB074271,AK124736,AK289985,BC036477,BC129986,X67734,X68274,CR749495 NP_005067,CAI15288,EAW91533,EAW91534,CAA59137,CAA63365,BAF82674,AAI29987,CAA47963,CAA48335,Q02246,Q68DA2,CAH18318 Hs.519220 GDB:138782 AXT|DKFZp781D102|FLJ42746|MGC157722|TAG-1|TAX|TAX1 contactin 2 protein-coding 732842 CNTN3 contactin 3 (plasmacytoma associated) 631992,1580863 16641997,16335952,14702039,11013081,10819331,8661054,8586965,8108413 631992 5067 NM_020872,AC016950,AC024222,AC128653,AC128656,CH471055,AB040929,AK001157,AL512746,BX951442,DR002512 NP_065923,EAW65535,BAA96020,CAC21671,Q9P232 Hs.12723 GDB:1391768 BIG-1|KIAA1496|PANG|PCS protein-coding 1349263 CNTN4 contactin 4 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. 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. 631992,1580863 15106122,14571131,17915252,17030759,16335952,15489334,14702039,12477932,12202991,11013081,9221934,8586965,1838307 631992 152330 NM_175613,NM_175612,AC018842,AC022002,AC022008,AC024057,AC026882,AC066608,AC087094,AC087427,CH471055,AF464063,AF549455,AI022097,AK057278,AK095729,AK097633,AK125460,AY090737,BC013797,BC026119,NM_175607 NP_783200,NP_783302,NP_783301,EAW63873,EAW63874,EAW63875,EAW63876,EAW63877,EAW63878,AAN86141,AAP05786,AAM00025,AAH26119,Q8IWV2 Hs.298705 GDB:10796292 AXCAM|BIG-2|CNTN4A|MGC33615|SCA16 protein-coding 734326 CNTN5 contactin 5 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 17903304,12477932,11069942,11013081,1838307 53942 AP002987,AP003126,AP003441,AP003558,AP004249,CH471065,AB013802,AB013803,BC039255,BC130619,AP002428,NM_014361,NM_175566,AP000760,AP000798,AP000923,AP001892,AP001988,AP002378 EAW66992,EAW66993,BAA36579,BAA36580,AAH39255,AAI30620,O94779,Q49AF3,NP_055176,NP_780775 Hs.656783 GDB:10796293 HNB-2s|MGC163491|NB-2 protein-coding 733383 CNTN6 contactin 6 The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. 1580863 9486763,15489334,14592966,12477932,1838307 27255 AC027123,NM_014461,AC034192,CH471055,AB003592,BC036338,BC113118 NP_055276,EAW63871,EAW63872,BAA82612,AAI13119,Q9UQ52 Hs.387300 GDB:10796294 MGC133256|NB3 protein-coding 734159 CNTNAP1 contactin associated protein 1 The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,381-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. 70689,1580863 9118959,14592966,11839274,11496158,9407060 70689 8506 NM_003632,AC100793,CH471152,U87223 NP_003623,EAW60867,EAW60868,EAW60869,AAB48481,P78357 Hs.408730 GDB:9955512 CASPR|CNTNAP|NRXN4|P190 protein-coding 1352756 CNTNAP2 contactin associated protein-like 2 This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness. 1580863 10624965,11352571,18179894,18179893,17646849,17392702,16571880,15489334,15203218,14702039,12975355,12853948,12809671,12690205,12542678,12477932,12421765,12093160,10048485 26047 NG_007092,AACC02000041,AC004856,AC004891,AC004896,AC005378,AC005518,AC005997,AC006004,AC006016,AC006315,AC006456,AC006992,AC007027,AC073112,AC073273,NM_014141,AC073308,AC073418,AC073428,AC073644,AC074115,AC079405,AC083849,AC084872,AC092676,AC093172,AF318292,AF318293,AF318297,AC073276,AF318298,CH471146,CS321220,AB020675,AB073883,AF193613,AF319045,AK000960,BC093780,BC113373,CD625182,CD625192,CR613191,CR933671 NP_054860,EAL24417,AAC36298,AAC71656,AAD50520,AAP21888,AAP21890,AAS00355,AAP21885,AAP22358,AAS07480,AAS02006,AAP22353,AAS07543,AAS07427,AAS07562,AAS07479,AAK49902,AAK49904,AAK49901,AAK49903,EAW80082,EAW80083,EAW80084,CAK96045,BAA74891,AAF25199,AAK34932,AAH93780,AAI13374,CAI45967,O75852,Q75LG9,Q75M92,Q75MA1,Q75MD4,Q75MF8,Q75MQ9,Q86UI8,Q86UJ1,Q86UL4,Q86UL6,Q86UL9,Q96T77,Q96T80,Q9UDS9,Q9UDV4,Q9UHC6 Hs.655684 GDB:11500395 CASPR2|CDFE|DKFZp781D1846|NRXN4 protein-coding 1348176 CNTNAP3 contactin associated protein-like 3 The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. 1580863 12093160,16344560,14702039,12477932,11214970 79937 AL162501,AL353729,AL953854,CH878599,AB051501,AF333769,AK056833,AU130948,AW242597,BC132737,CR614145,NM_033655 NP_387504,CAI95008,EAW50585,BAB21805,AAG52889,BAB71293,AAI32738,Q4UJ74,Q4V305,Q4VWZ9,Q5RGR9,Q5RGS1,Q5RGU6,Q5VYQ4,Q5VYQ6,Q5VYQ7,Q96MJ5,Q9BZ76 Hs.521495,Hs.604441,Hs.658328 CASPR3|CNTNAP3A|RP11-138L21.1|RP11-290L7.1 protein-coding 1604153 CNTNAP3B contactin associated protein-like 3B 15820314 728577 XM_001128489,XM_001720460,AL353791,BX649569,BX664735,CR788268,BX538190 XP_001128489,XP_001720512,CAI95288,CAD98060,Q4VXF0,Q7Z321 Hs.521495 DKFZp686I15204 protein-coding 1315089 CNTNAP4 contactin associated protein-like 4 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. Alternative splicing results in two transcript variants encoding different isoforms. 17213182,16344560,14702039,12477932,12421765,12093160,11214970,7757816 85445 NM_033401,NM_138994,AC010528,AC106741,CH471114,AB051550,AB100092,AB100093,AB100094,AF463518,AI352097,AK054786,AK057327,BC017266,BM544789,CR616666,DA319383,DB050637,DT217898,Z44514 NP_207837,NP_620481,EAW95610,EAW95611,BAB21854,BAC55270,BAC55271,BAC55272,AAL68839,BAB71429,Q54A24,Q86YZ7,Q86YZ8,Q8WX98,Q96M80,Q9C0A0,AAI41551 Hs.461389,Hs.648758 CASPR4|KIAA1763 protein-coding 1313519 CNTNAP5 contactin associated protein-like 5 This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. 1580863 16845472,14702039 129684 AB077881,AK056528,NM_130773,AC010901,AC019105,AC019159,AC074362,AC079154,AC092158,AC097715,AC104648,AC105762,CH471103 EAW95269,BAB83897,BAB71205,Q8WYK1,AAI48398,NP_570129,AAY14716,AAX88894,AAX81997,AAY15042,AAY24250,AAX88904,EAW95266,EAW95267,EAW95268 Hs.660653 FLJ31966|caspr5 protein-coding 1603924 CNTROB centrobin, centrosomal BRCA2 interacting protein CNTROB is a centrosomal protein that interacts with BRCA2 (MIM 600185) and is required for centriole duplication and cytokinesis (Zou et al., 2005 [PubMed 16275750]).[supplied by OMIM] 16275750,17535851,16713569,15498874,15489334,14702039,12477932,11984006 116840 NM_001037144,NM_053051,AC104581,CH471108,AF141344,AF331638,AK074847,AK293076,AL137669,AL833907,AY160226,AY160227,BC014055,BC021134,CR601905 NP_001032221,NP_444279,EAW90104,EAW90105,EAW90106,EAW90107,EAW90108,AAG49447,AAL56068,BAC11241,BAF85765,CAH10698,CAD38763,AAO22135,AAO22136,AAH14055,AAH21134,Q8N137,ABM82964,ABM86155 Hs.348012 LIP8|PP1221 protein-coding 1354088 COASY Coenzyme A synthase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. COASY is a bifunctional enzyme that catalyzes the 2 last steps in CoA synthesis. These activities are performed by 2 separate enzymes, phosphopantetheine adenylyltransferase (PPAT; EC 2.7.7.3) and dephospho-CoA kinase (DPCK; EC 2.7.1.24), in prokaryotes (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM] 1580863,1642057 11994049,16460672,16344560,16341674,16189514,15589845,15489334,15302935,14702039,14514684,12477932,11980892,11923312,9373149,8529999,8125298 1642057 80347 NM_025233,NM_001042532,NM_001042530,NM_001042529,NM_001042531,AC067852,CH471152,AF208536,AF453478,AK075415,AK092498,AK225485,AL360167,AL360168,AL583142,AL833588,AY094602,BC006354,BC020985,BC067254,BM473635,BM781531,BT007168,CR608823,DA131866,DA786254,U18919 NP_079509,NP_001035997,NP_001035995,NP_001035994,NP_001035996,EAW60838,EAW60839,EAW60840,AAF87955,AAL50813,BAC11605,AAM19996,AAH06354,AAH20985,AAP35832,AAA69699,Q13057,AAH67254 Hs.296422 DPCK|FLJ35179|NBP|PPAT|UKR1|pOV-2 protein-coding 1323755 COBL cordon-bleu homolog (mouse) 16344560,15489334,15345747,14512015,12477932,9734811,7586755 23242 CR936689,DA245843,CR605312,NM_015198,AC004414,AC005535,AC012372,CH236955,CH471128,AB014533,AL713786,BC029275,BC045771,BC094695,BC111496,BC150263 O75128,Q8TCM1,NP_056013,EAL23896,EAW60962,EAW60963,BAA31608,CAD28543,AAH29275,AAH45771,AAH94695,AAI11497,AAI50264 Hs.99141 DKFZp686G13227|KIAA0633|MGC131893 protein-coding 1319028 COBLL1 COBL-like 1 16964243,15815621,15489334,14702039,14512015,12477932,10231032,9373149,8125298 22837 NM_014900,AC019181,CH471058,AB023194,AK001813,AK002054,AK002057,AK075181,AK225849,AL049939,AL832824,BC006264,BC071588,BX537877,BX648994,BX649112,CB989062,CR590777,CR619113 NP_055715,AAX93068,EAX11338,EAX11339,EAX11340,EAX11341,BAA76821,CAB43215,AAH06264,AAH71588,CAD97877,Q53SF7 Hs.470457 COBLR1|KIAA0977 protein-coding 1603677 COBRA1 cofactor of BRCA1 NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM] 14667819,11256614,12676794,18071589,17910036,17659869,17499042,17442680,16964243,16452188,16381901,16344560,15530430,15489336,15489334,15342491,15302935,15185750,14702039,12612062,12477932,11739404,11230166,11112772,11076863,10574461,10199401,16838299,17353931 25920 AB033008,AF464935,AK022651,AK091056,AL050280,BC011892,BC019029,DA210427,NM_015456,BX255925,CH471090 EAW88377,EAW88378,BAA86496,AAL69965,BAB14157,CAB43381,AAH11892,Q0JTJ5,Q8WX92,CAL38167,NP_056271,CAM24149 Hs.655043 DKFZP586B0519|KIAA1182|NELF-B|NELFB|RP13-122B23.3 protein-coding 1318365 COCH coagulation factor C homolog, cochlin (Limulus polyphemus) The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. 1600878,1580863 1910721,7829101,9806553,17926100,17561763,17368553,17264471,16951386,16835921,15579465,14718574,14512963,14501450,12975309,12928864,12843317,12477932,11709536,11574466,11568667,11295836,10400989,9931344,9441737,8817345,8417734 1600878 1690 NM_004086,AL049830,AY916789,CH471078,AF006740,AK123362,AK130273,AK292724,AY358900,BC000640,BC007230,BC018827,CR611655,CR614743 NP_004077,AAW82432,EAW65963,EAW65964,EAW65965,AAC39545,BAC85316,BAF85413,AAQ89259,AAH07230,O43405,Q6ZP09,Q96IU6 Hs.21016 GDB:696345 COCH-5B2|COCH5B2|DFNA31|DFNA9 protein-coding 1352630 COD2 cone dystrophy 2 (X-linked) 9199568 1275 GDB:6520166 1312123 COG1 component of oligomeric golgi complex 1 The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. 1580863 15047703,11980916,16857184,16020545,15489334,14702039,12477932,11929878,10718198,9927668 9382 NM_018714,AC097641,CH471099,AB037802,AK025633,AK098224,AL359611,BC021985,BC047465,BI667005,CR603633 NP_061184,EAW89113,EAW89114,BAA92619,CAB94881,AAH21985,AAH47465,Q4G0L8,Q8WTW3,ABM87028 Hs.283109 GDB:9956137 CDG2G|DKFZp762L1710|KIAA1381|LDLB protein-coding 1312615 COG2 component of oligomeric golgi complex 2 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG2 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863 15047703,7962052,17274799,15489334,12477932,11980916,11929878,7750094,16189514 22796 NM_007357,AL158214,CH471098,AL832190,BC014960,BC051906,CR625249,S77362,Z34975 NP_031383,EAW69915,EAW69916,AAH14960,AAH51906,CAA84427,Q14746,Q5T8Y1,Q86U99,ABM83170,ABM86371,ABW03786 Hs.211800 GDB:9956709 LDLC protein-coding 1312059 COG3 component of oligomeric golgi complex 3 The protein encoded by this gene has similarity to a yeast protein. It seems to be part of a peripheral membrane protein complex localized on cis/medial Golgi cisternae where it may participate in tethering intra-Golgi transport vesicles. 1580863 11929878,16420527,11980916,11292827,15047703,15489334,15057823,12665801,12477932,10562277,10512869,9373149,9110174,8619474,8125298 83548 NM_031431,AL139326,AL606514,CH471075,AF111707,AF131829,AF332595,AF349676,AK026305,AK026994,AK074374,AK225466,AK225952,BC038953,BX648211,CR609778 NP_113619,CAH72888,EAX08741,EAX08742,EAX08743,AAM12423,AAK06848,AAK66974,AAH38953,Q8TE06,Q96JB2 Hs.507948 GDB:11505806 SEC34 protein-coding 1321515 COG4 component of oligomeric golgi complex 4 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG4 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863 15047703,16344560,15489334,15342556,14759258,14702039,12477932,11980916,11929878,11703943,16189514 25839 NM_015386,AC106804,CH471241,AB088369,AK022874,AK026435,AK096557,AL050101,AU125729,BC000796,BC006306,BC013347,BC027726,BC072438,BC128144,BC128145,BP282697,BX648010,CR590176,CR601969 NP_056201,EAW51806,EAW51807,EAW51808,EAW51809,EAW51810,EAW51811,EAW51812,EAW51813,BAC05682,BAB14286,BAB15483,BAC04816,CAB43272,AAH00796,AAH06306,AAH13347,AAH27726,AAH72438,AAI28145,AAI28146,Q6PIW8,Q8N8L9,Q9H9E3 Hs.208680 GDB:11508348 COD1|DKFZp586E1519 protein-coding 1319696 COG5 component of oligomeric golgi complex 5 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG5 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863 15047703,9792665,11980916,16344560,16051600,14702039,12853948,12477932,11929878,10782044 10466 NM_181733,NM_006348,AC002381,AC004492,AC004855,CH236947,CH471070,AF058718,AK022835,AU117533,BC068540,BF979561,BI545441,BI597200,CR620007 NP_859422,NP_006339,AAB63816,AAC83406,EAL24392,EAL24393,EAW83395,EAW83396,EAW83397,AAC69276,AAH68540,Q9UP83 Hs.97627,Hs.239631 GDB:9957081 GOLTC1|GTC90 protein-coding 1346233 COG6 component of oligomeric golgi complex 6 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG6 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1580863 15047703,12477932,11980916,11929878,11703943,10574461 57511 AL512505,AL596306,CH471075,AB032960,AF116827,AK026638,BC027469,BC051723,NM_020751,CR627406 NP_065802,CAI16936,CAI16937,CAM23735,EAX08618,EAX08619,EAX08620,BAA86448,AAD29633,AAH51723,CAH10495,Q5VTB3,Q9Y2V7 Hs.507805 GDB:11508350 COD2|DKFZp313D191|KIAA1134 protein-coding 1349178 COG7 component of oligomeric golgi complex 7 Multiprotein complexes are key determinants of Golgi apparatus structure and its capacity for intracellular transport and glycoprotein modification. Several complexes have been identified, including the Golgi transport complex (GTC), the LDLC complex, which is involved in glycosylation reactions, and the SEC34 complex, which is involved in vesicular transport. These 3 complexes are identical and have been termed the conserved oligomeric Golgi (COG) complex, which includes COG7 (Ungar et al., 2002 [PubMed 11980916]).[supplied by OMIM] 1600879,1580863 15047703,15107842,16420527,16510524,11980916,17356545,16051600,15489334,15342556,14702039,12975309,12477932,11929878,9110174,8619474,16189514 1600879 91949 NM_153603,AC008915,CH471145,AF070568,AK093989,AK130714,AY358632,BC000549,BC037563,BP308365 NP_705831,EAW55830,EAW55831,EAW55832,BAC85411,AAQ88995,AAH00549,AAH37563,P83436,Q6ZNT4 Hs.185807 GDB:11505808 CDG2E protein-coding 1316049 COG8 component of oligomeric golgi complex 8 This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. 1580863 15047703,11703943,18353293,17331980,17220172,15489334,14702039,12477932,11980916,11929878,11181995,11149922,9373149,8125298 84342 NM_032382,AC026464,CH471092,AK025968,AK056344,AK225391,BC017492,BC063831,BC121022,BC121023,CR591305,CR606206,CR611458,CR612803,CR624165,DC374379 NP_115758,EAW83266,EAW83267,EAW83269,BAB15301,BAB71157,AAH17492,AAI21023,AAI21024,Q0VAK2,Q96MW5 Hs.130849 GDB:11508979 DOR1|FLJ22315 protein-coding 735624 COIL coilin The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. 1580863 12757932,7971277,17461797,17088425,17081983,16964243,16713569,16565220,16219678,16079131,15862129,15635413,15489334,15302935,12679382,12482916,12477932,12361597,11792806,11790298,11641277,11302690,11102515,10751146,9679133,9644758,9513048,9013710,7860074,7829101,7679389,7490287,2033369,16189514 8161 NM_004645,AC004584,CH471109,AW021880,BC010385,CR594693,CR605137,CR610327,CR611341,M58411,U06632 NP_004636,EAW94522,AAH10385,AAA36412,AAB81550,P38432,ABM83853,ABM87175 Hs.532795 GDB:435364 CLN80|p80-coilin protein-coding 1344926 COILP1 coilin pseudogene 1 317784 NG_002476,AL157791 GDB:435376 COILP coilin pseudogene pseudo 1605760 COILP2 coilin pseudogene 2 494447 NG_004786,AC109357 COILP-2 pseudo 735281 COL10A1 collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia) This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). 1600880,1580863 8554571,17335825,17072841,17009260,16806867,16598786,15880705,15695517,15464363,14574404,12554676,11839302,11805116,11115494,10991694,10436013,9852679,9837818,9525992,9101290,9067753,9049979,8986632,8782043,8304336,8220429,8012364,8004099,7876225,7749409,7607655,2037056,1764025,1743401,1587271,1397333,1397263 1600880 1300 NM_000493,AL121963,CH471051,M74050,S73619,X58879,X60382,X65120,X72578,X72579,X72580,X98568,BC130621,BC130623,BI521533,CA447328,S68531 NP_000484,CAB87590,CAI19529,CAI19530,EAW48240,AAA61221,AAB31113,CAA41686,CAA42933,CAA46236,CAA51170,CAA67178,AAI30622,AAI30624,AAC60615,Q03692,Q5QPC7,Q5QPC8 Hs.520339 GDB:128635 procollagen, type x, alpha 1 protein-coding 735396 COL11A1 collagen, type XI, alpha 1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Three transcript variants encoding different isoforms have been identified for this gene. 1600881,1580863 10486316,3182841,8872475,18280717,18203646,18040076,17999364,17236192,17016581,16344560,15922184,15286167,12805369,12673280,12477932,11780999,11709013,11707154,9659900,8388073,7814404,7721876,7560887,3220479,2591970,1690726 1600881 1301 NM_080630,NM_080629,NM_001854,AC093150,AC099567,AF017809,AF101112,AL627203,AY705366,AY705367,AY705368,AY705369,AY705370,AY744914,AY870934,AY870935,AY870936,AY870937,AY870938,AY870939,AY870940,AY870941,AY870942,CH471097,DQ097164,L38956,U12139,AB208844,AU118365,BC117697,BU159588,BX476821,J04177 NP_542197,NP_542196,NP_001845,AAF04724,AAF04725,AAF04726,AAW47652,AAW47653,AAW47654,AAW47655,AAW47656,AAU88421,AAW65382,AAW65383,AAW65384,AAW65385,AAW65386,AAW65387,AAW65388,AAW65389,AAW65390,EAW72908,EAW72909,EAW72910,EAW72911,EAW72912,EAW72913,AAZ06348,AAA79171,AAN86608,BAD92081,AAI17698,AAA51891,P12107,Q149N0,Q4FAC4,Q59HB5,Q5IKE6,Q5IKE9,Q5VT31,Q5XNW0 Hs.523446 GDB:120595 CO11A1|COLL6|STL2 procollagen, type xi, alpha 1 protein-coding 1350403 COL11A2 collagen, type XI, alpha 2 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, and autosomal dominant nonsyndromic sensorineural 13 deafness. Three transcript variants encoding different isoforms have been identified for this gene. 1600883,1580863 7859284,8838804,18469698,18309376,18040076,17471097,16734381,16609882,16133074,16033917,15922184,15558753,14574404,12673280,12554743,12477932,11780999,11341341,11289713,10677296,10581026,9805126,9585596,9506662,9188673,9106521,9101290,8663204,8325374,7836472,7721876,7560887,7559422,2760050,2591970,11865055,10899114 1600883 1302 NM_080679,NM_080681,NM_080680,AL645940,AL662824,AL844527,AL845446,CH471081,CR759733,CR936877,U32169,U41065,U41067,U41068,U41069,AK130938,BC053886,J04974,L18987 NP_542410,NP_542412,NP_542411,CAI18063,CAI17611,CAI41834,CAI95551,EAX03676,EAX03677,EAX03678,CAQ10294,CAQ09060,AAC50213,AAC50214,AAC50215,AAC17464,AAC17465,BAC85467,AAH53886,AAA52034,AAA35498,P13942,Q4VXY5,Q5JP94,Q5STP6,Q5SUI8,Q6LCP7,Q6ZNN4,Q7Z6C3 Hs.390171 GDB:119788 DFNA13|DFNB53|HKE5|PARP|STL3 protein-coding 1343549 COL11A2P collagen, type XI, alpha 2 pseudogene 394214 735743 COL12A1 collagen, type XII, alpha 1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 1427837,3476925,17960519,16344560,16284948,15609093,15342556,14702039,12890494,12477932,12045897,11697796,10066359,9826181,9344363,9143499,9129225,8207089,2668306 1303 AK057081,BC034715,BC050587,BP286308,DA661773,U68139,U73778,U73779,AJ420501,NM_080645,NM_004370,AF061871,AL080250,AL096771,AL354664,CH471051,S48374,S48383,AI752603 AAH50587,AAC01506,AAC51244,AAD40483,Q5TF09,Q86TG9,Q99715,NP_542376,NP_004361,AAC83578,CAI19896,CAI19898,CAI19906,CAI19908,CAM28080,CAM28081,CAH71310,EAW48748,EAW48749,EAW48750,AAB23937 Hs.101302 GDB:131662 BA209D8.1|COL12A1L|DJ234P15.1 procollagen, type xii, alpha 1 protein-coding 1607090 COL13A1 collagen, type XIII, alpha 1 This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. 11956183,10865988,2459707,9624150,12832406,10713152,10429945,8246446,3547403,2767682,1894651,1698771,1447210,1447209 1305 NM_080803,NM_080808,NM_080802,NM_080809,NM_080801,NM_080811,NM_080800,NM_080807,NM_080806,NM_080799,NM_080798,NM_080810,NM_080805,NM_080815,NM_080814,NM_080813,NM_080812,AC024601,AC025426,AF071009,AL138925,CH471083,M20795,M20796,M20797,M59217,NM_005203,NM_080804,M20798,M20799,M20800,M20801,M20802,M20803,M20804,M20805,M69008,AJ293624,AK124476,BC139913,BM744248,M15524,M33653 NP_542993,NP_542998,NP_542992,NP_542999,NP_542991,NP_543001,NP_542990,NP_542997,NP_542996,NP_542989,NP_542988,NP_543000,NP_542995,NP_543005,NP_543004,NP_543003,NP_543002,AAD48082,CAI15450,CAI15451,CAI15452,EAW54333,EAW54334,EAW54335,EAW54336,EAW54337,EAW54338,EAW54339,EAW54340,EAW54341,EAW54342,EAW54343,EAW54344,EAW54345,EAW54346,EAW54347,EAW54348,EAW54349,EAW54350,EAW54351,EAW54352,EAW54353,EAW54354,EAW54355,EAW54356,EAW54357,EAW54358,EAW54359,EAW54360,EAW54361,EAW54362,EAW54363,EAW54364,EAW54365,EAW54366,EAW54367,EAW54368,EAW54369,EAW54370,AAA51987,AAA52047,AAA51685,Q14035,Q5TAT6,Q6ZVK2,Q9UP45,NP_005194,NP_542994,AAA51988,AAA51989,AAA51990,AAA51991,AAA52754,CAC00688,BAC85859,AAA52048 Hs.695934 GDB:119789 FLJ42485 protein-coding 1314064 COL14A1 collagen, type XIV, alpha 1 1580863 2187872,9427527,17960519,16421571,16129687,15609093,15489334,15146197,15065570,14702039,12477932,10646805,10393435,9252349,9092299,8986622,8756762,8135774,7842743,1716629,16189514 7373 NM_021110,AC020603,AC090736,AC107877,CH471060,AK021997,AK293080,BC014640,BC036192,BC083495,BC140893,BQ717750,BX472674,CN261527,CR614438,M64108,M64109,Y11709,Y11710,Y11711 NP_066933,EAW91998,EAW91999,EAW92000,EAW92001,EAW92002,BAF85769,AAH14640,AAH36192,AAH83495,AAI40894,AAA36794,AAA36795,CAA72401,CAA72402,CAA72403,Q05707,Q4G0W3,Q9UDF6 Hs.409662 GDB:11507171 UND collagen, type xiv, alpha 1 (undulin) protein-coding 1321941 COL15A1 collagen, type XV, alpha 1 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. 1580863 9176399,8929352,8307960,8106446,1427836,1279671,9651385,18203317,18171981,17355226,15164053,14702039,11937714,11068203,10891348,10791950,10049780 1306 AF261108,AL136084,AL354923,CH471105,L25280,L25281,L25282,L25283,L25284,L25285,AK095885,CR595376,CR602416,D21230,DB452324,L01697,L25286,NM_001855 NP_001846,CAI17044,EAW58899,EAW58900,EAW58901,EAW58902,EAW58903,EAW58904,AAC78500,BAA04762,AAA58429,P39059,Q9UDC5,AAI57095 Hs.409034 GDB:132578 FLJ38566 protein-coding 1322191 COL16A1 collagen, type XVI, alpha 1 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. 1580863 16754661,15165854,1284248,16710414,12782140,12477932,9022684,7882999,7836360,1631157 1307 NM_001856,AC114488,CH471059,AB209571,AF370368,BC064839,CR611324,M92642,R54778,S57132,X14963,X15038 NP_001847,EAX07595,EAX07596,EAX07597,BAD92808,AAQ15204,AAA58427,AAB25797,CAA33085,CAA33142,Q07092 Hs.368921 GDB:134045 447AA|FP1572 protein-coding 1322425 COL17A1 collagen, type XVII, alpha 1 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. 1600884 9012408,17920818,17657247,17555727,17545155,17443672,16899459,16580182,16487966,16417243,16387484,16354180,16117787,15734283,15609083,15489334,15164054,15161638,15081423,15047704,15009107,14987253,14962097,12482924,12477932,12421765,12356719,11912005,11739652,11736901,11514543,10951237,10756096,10671979,10652291,10637308,10577906,10321838,10022517,9748270,9740252,9665393,9660880,9521878,9500991,9457913,9204958,9199555,9087447,9038345,8669466,8662839,7916703,7550320,2045679,1748679,1324962,14962091,14562173 1600884 1308 U76584,U76585,U76586,U76587,U76588,U76589,U76590,U76591,U76592,U76593,U76604,AF136185,AF136186,AU076442,BC004478,M63730,M91669,NM_000494,NG_007069,AL138761,CH471066,U76564,U76565,U76566,U76567,U76568,U76569,U76570,U76571,U76572,U76573,U76574,U76575,U76576,U76577,U76578,U76579,U76580,U76581,U76582,U76583 AAH04478,AAA51839,AAA35605,Q5JV37,Q9UMD9,NP_000485,CAC00589,CAI12397,CAI12398,EAW49612,EAW49613,EAW49614,AAB51499 Hs.117938 GDB:131396 BA16H23.2|BP180|BPAG2|KIAA0204|LAD-1 protein-coding 736032 COL18A1 collagen, type XVIII, alpha 1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Two transcript variants encoding different isoforms have been found for this gene. 1600910,1600887,1600901,1600885,1600906,632362,70690,1580863 9008168,10942434,18345385,18054814,18006826,17653045,17587451,17546652,17544408,17526870,17482599,17067672,17011029,16998835,16866623,16807676,16793908,16466644,16358965,16320826,16025479,15985216,15950618,15735323,15694132,15662127,15605080,15540202,15489334,15464359,15374730,15334690,15328173,15296943,15148373,15146197,15014038,14973128,14760864,14732364,14702039,14695535,14614989,14519482,14514474,12857600,12839947,12693719,12682293,12581742,12486154,12479859,12477932,12458056,12415512,12408231,12237301,12231538,12209593,12174873,12029087,12023034,11937714,11911017,11815623,11781696,11700031,11606364,11517600,11336704,11158588,10830953,10716919,10544250,9724722,9503365,8776601,8188291,8183893 1600910,1600887,1600901,1600885,1600906,632362,70690 80781 NM_030582,AL163302,AY484971,BX322561,BX322562,BX322563,CH471079,AF018081,AF018082,AF184060,AF333246,AF333247,AF416592,AK098216,NM_130445,AK130835,BC023005,BC033715,BC063833,CN389577,CR622901,L22548 NP_569712,NP_085059,CAB90482,AAR83296,AAR83297,AAR83298,EAX09338,EAX09339,EAX09340,EAX09341,EAX09342,EAX09343,EAX09344,AAC39658,AAC39659,AAF01310,AAK50626,AAL37720,AAH33715,AAH63833,AAA51864,P39060,Q8NG19 Hs.84190,Hs.517356 GDB:138752,GDB:4073044 FLJ27325|KNO|MGC74745 protein-coding 1318965 COL19A1 collagen, type XIX, alpha 1 This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. 1580863 7916703,1639419,7775380,9143499,15489334,15383545,14574404,12788917,12477932,9344653,9202028,8889548,8034603 1310 NM_001858,AB004629,AL118519,AL133388,AL136445,AL160262,AL359539,CH471051,D38466,U09280,BC070177,BC113362,BC113364,CF144008,D38163,L12347,M63597,U09279 NP_001849,BAA23309,CAB99331,CAI42496,CAI42497,CAI42498,CAC12699,CAI42716,CAI42319,CAI42322,CAI16492,EAW48828,EAW48829,EAW48830,BAA07488,BAA07489,AAA21147,AAI13363,AAI13365,BAA07368,AAA36358,AAA58468,AAA21146,Q13708,Q13709,Q14993,Q5JVU1 Hs.444842 GDB:3888220 COL9A1L|D6S228E 1643257 BW136_H protein-coding 734049 COL1A1 collagen, type I, alpha 1 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] 734802,734801,734803,1580863,2292195 10627137,10446987,10408781,9878537,9733643,9675033,9659899,9639571,9600458,9443882,9239397,9169408,9143923,9101304,9101290,9016532,8988177,8841196,8786074,8723681,8669434,8552450,8468356,8456809,8456808,8364588,8349698,8349697,8339541,8223589,8100209,16705691,8097422,8094076,12016463,11973338,11907712,11874231,11867580,11856343,11847210,11792589,11731270,11716195,11685422,11683425,16622736,16580273,16540720,16521042,16498072,16475872,16458627,16410344,16407265,16272059,16263577,16173077,16171977,16159929,16102727,16009674,16001263,15994869,15966503,15965952,15952128,15950180,15880349,15805113,15794927,15788405,15781005,15728585,15638371,15592793,15581348,15570400,15552843,15514891,15514164,15489334,15466008,15365990,15256976,15241796,15241219,15227656,15211650,15133851,15106082,15085313,15081423,15049048,14734826,14722584,14672895,14643521,14633859,14613485,14595528,14562991,14528100,14506618,12879219,12868700,12810179,12803121,12787275,12753258,11668615,11566920,11547832,11547828,11508783,11432962,11420783,11383910,11368514,11359786,11316004,11311202,11303720,11283002,11230734,11204438,11173011,11143996,11136533,11122085,11090261,11085801,10772928,10739762,12735930,12660034,12590186,12584032,12575457,12491092,12477932,12393937,12358155,12232678,12211646,12200454,12185380,12180907,12164934,12149247,12138160,12127408,12107666,12101112,12099690,12096841,12073153,12072442,12069607,12034705,12034531,12016466,16278217,1303238,1874719,1715582,1939645,3872140,9295288,10778855,9028946,9280292,18379465,18353721,18306915,18226133,18089612,18069662,18028452,18024269,17991736,17950782,17889845,17875077,17766609,17698844,17557158,17554369,17551768,17489845,17392686,17332715,17331078,17303000,17276428,17273809,17252541,17201588,17187960,17179726,17140440,17135298,17100549,17028262,17021946,17019952,16988190,16934803,16911569,16869454,16864092,16835341,16831952,16815299,16804049,16723701,16713399,8019571,7982948,7961597,7945553,7881420,7852349,7691343,7679635,7520724,7499207,7034958,6689127,6462220,6320112,6292910,6183642,5529814,4319110,3857621,3857213,3722186,3667599,3571333,3490481,3480516,3403550,3340531,3264153,3244312,3178743,3170557,3108247,3082886,3016737,2981843,2913053,2857713,2843432,2822714,2794057,2777764,2767050,2745420,2511192,2470760,2468670,2374517,2339700,2318855,2295701,2211725,2169412,2156854,2116413,2037280,2036375,2035536,2010058,1995349,1988452,1953667,1939261,1895312,1870989,1787829,1770532,1737847,1730778,1718984,1693626,1634225,1613761,1511982,1468447,1460047,1409674,1377218,1339453,16189514 734802,734801,734803,2292195 1277 NM_000088,NG_007400,AC015909,AF017178,CH471109,J02829,J03559,K03179,L47667,M10627,M11162,M20789,M23213,M55998,S58915,X00299,X00820,AB209597,BC036531,J00110,J00111,J00112,K01228,M32798,M36546,S64596,X06269,X07884,Z74615,J00113 NP_000079,AAB94054,EAW94630,EAW94631,AAA51993,AAA52052,AAA51847,AAB59576,AAA51992,AAA75386,AAB59373,AAB59363,AAA52036,AAB26324,CAA25082,CAA25394,BAD92834,AAH36531,AAA52289,AAA52290,AAN86574,AAA51995,AAA52049,AAA60150,AAB27856,CAA29605,CAA30731,CAA98968,P02452,Q14042,Q6LAN8,Q9UMA6,ABM84497,ABW03370,AAA52291 Hs.172928,Hs.709197 GDB:119061 OI4 protein-coding 730984 COL1A2 collagen, type I, alpha 2 This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] 1581196,1581197,1581198,1581199,704404,734805,734804,1580863,704405 17142024,17072841,16864092,16849317,16816023,16705691,16702209,16564026,16316921,16285730,16192463,16091368,16036621,15983038,15982862,15917161,15818662,15788405,15741186,15599596,15581348,15516691,15514164,15489334,17146610,12759229,12702564,12477932,12424255,12393755,12200454,12160476,12101112,12034705,11986307,11867580,11836364,11668615,11359786,11311202,11143996,10772928,10734230,15389632,15365990,15345715,15241796,15211650,15149860,15085313,15077201,14739420,14555266,12968017,12879219,12813128,16278217,8841196,15609325,6267597,1715582,1939645,3872140,9295288,10778855,9028946,9280292,18284430,18093617,17884818,10722718,10627137,10408781,10329688,9878537,9675033,9443882,9373149,9239397,9101290,9016532,8889548,8829655,8829649,8800927,8723681,8552450,8468356,8456808,8456807,8444468,8401517,8182080,8125298,8094076,8081394,7959683,7945553,7906591,7891382,7881420,7860070,7852349,7749416,7720740,7693712,7688497,7520724,7346227,7034958,6687691,6501291,6321602,6309769,6092353,6087329,5529814,4412529,4011429,3857213,3680255,3490481,3421913,3403536,3372533,2914942,2897363,2839839,2824475,2777764,2454224,17875077,17653508,17620151,17407139,17334644,2394758,2375748,2364107,2156854,2129528,2064612,2052622,2010058,1990009,1895312,1874719,1730778,1711048,1693626,1642148,1577745,1468447,1409674,1385413,1377218,1362870,1358799,1339453,1303238,1284475 1581196,1581197,1581198,1581199,734805,734804 1278 NM_000089,NG_007405,AB004317,AC002074,AC002528,AF004877,CH236949,CH471091,K01078,K02568,M21353,M21671,M22817,M28985,M35391,M64229,S98904,AA457209,AK223175,AK226074,AL833478,BC042586,BC054498,CF125721,J00114,J03464,L47668,M22816,S41099,S96821,V00503,X02488,X55525,Y00724,Z74616 NP_000080,BAA25383,AAS02025,AAB69977,AAB93981,EAW76794,EAW76795,EAW76796,AAA51887,AAA51850,AAA52053,AAA59994,AAA51846,AAA60356,AAA60041,AAA52050,AAB22126,AAH42586,AAH54498,AAA51996,AAB59374,AAB59577,AAA51844,AAB22761,AAB22020,CAA23761,CAA26320,CAA39142,CAA68709,CAA98969,P08123,Q14036,Q53FV6,Q75N18,Q7KZ71 Hs.489142 GDB:119062 OI4 protein-coding 1346873 COL1AR collagen, type I, alpha, receptor 2840666 1279 GDB:119790 1602872 COL20A1 collagen, type XX, alpha 1 12477932,16189514,15489334,11780052,10819331 57642 AB040943,AK098702,AL390141,BC013658,BC019637,BC041767,BC043183,NM_020882,CH471077 EAW75286,EAW75287,EAW75288,EAW75289,BAA96034,BAC05387,AAH13658,AAH19637,AAH41767,AAH43183,Q4VXQ3,Q4VXQ5,Q6PI59,Q8IVX1,Q8N7B2,Q9P218,NP_065933,EAW75285 Hs.271285 KIAA1510|bA261N11.4 protein-coding 1347782 COL21A1 collagen, type XXI, alpha 1 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XXI collagen is localized to tissues containing type I collagen so, like other members of this collagen family, it may serve to maintain the integrity of the extracellular matrix. An alternatively spliced transcript variant has been described, but its full-length nature has yet to be determined. 1580863 15342556,14702039,12477932,11863369,11827793,11566190,11230166 81578 AF438327,AL031782,AL034452,AL513530,CH471081,AF330693,AF370383,AF414088,AK096444,AK126586,AL136624,BC045597,BC126108,NM_030820,BP231679 NP_110447,AAL86699,CAI22496,CAI22497,CAI22395,CAI22396,CAH73912,CAH73913,EAX04448,EAX04449,EAX04450,EAX04451,EAX04452,AAL50033,AAQ15219,AAL02227,CAB66559,AAH45597,AAI26109,Q96P44 Hs.47629 GDB:11503502 COLA1L|DKFZp564B052|FLJ39125|FLJ44623|FP633|MGC26619|dJ682J15.1|dJ708F5.1 protein-coding 1319222 COL22A1 collagen, type XXII, alpha 1 COL22A1, a member of the FACIT (fibrillar-associated collagens with interrupted triple helices) subgroup of the collagen protein family, specifically localizes to tissue junctions (Koch et al., 2004 [PubMed 15016833]).[supplied by OMIM] 1580863 15016833,12477932 169044 NM_152888,AC068476,AC105130,AC115720,AP006262,CH471060,AA781676,AF406780,BC042075,BX094632 NP_690848,EAW92193,EAW92194,EAW92195,AAN03620,AAH42075 Hs.117169 protein-coding 1353219 COL23A1 collagen, type XXIII, alpha 1 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM] 1299589,1580863 15231747,17627939,16728390,15489334,12644459,12477932 1299589 91522 NM_173465,AC008659,AC022096,AC093290,AC136601,CH471165,AL137461,AY158895,AY898961,BC042428 NP_775736,EAW53833,EAW53834,CAB70749,AAO18361,AAX84028,AAH42428,Q86Y22,Q8N8C8 Hs.660026 DKFZp434K0621 protein-coding 1349074 COL24A1 collagen, type XXIV, alpha 1 16373341,12874293,12477932 255631 NM_152890,AC099561,AC104455,AL356059,AL359971,AL445427,CH471097,AB209686,AY244357,BC113654,BC116180,BC117170 NP_690850,EAW73193,BAD92923,AAP80185,AAI13655,AAI16181,AAI17171,Q17RW2 Hs.659516 MGC142214 protein-coding 1603375 COL25A1 collagen, type XXV, alpha 1 COL25A1 is a brain-specific membrane-bound collagen. Proteolytic processing releases CLAC, a soluble form of COL25A1 containing the extracellular collagen domains that associates with senile plaques in Alzheimer disease (AD; MIM 104300) brains (Osada et al., 2005 [PubMed 15615705]).[supplied by OMIM] 11927537,15215182,15522881,15615705,16300410,15853808,14656069,12477932 84570 NM_198721,NM_032518,AC004051,AC004701,AC073427,AC095066,AC097473,CH471057,AF293340,AF293341,BC030649,BC036669 NP_942014,NP_115907,AAY40947,EAX06238,EAX06239,EAX06240,AAK35008,AAK35009,AAH36669,Q4W5I4,Q8NE08,Q9BXS0 Hs.658842 CLAC|CLACP protein-coding 1350673 COL27A1 collagen, type XXVII, alpha 1 Fibrillar collagens, such as COL27A1, compose one of the most ancient families of extracellular matrix molecules. They form major structural elements in extracellular matrices of cartilage, skin, and tendon (Boot-Handford et al., 2003 [PubMed 12766169]).[supplied by OMIM] 15922909,14702039,12766169,12714037,12477932,11347906 85301 NM_032888,AL356796,AL445543,CH471090,AB058773,AK021957,AY149237,BC007696,BC035728 NP_116277,CAI16857,CAI14772,CAI14773,EAW87411,EAW87412,EAW87413,EAW87414,BAB47499,BAB13947,AAN41263,Q8IZC6,Q9HAA3 Hs.494892 FLJ11895|KIAA1870|MGC11337|RP11-82I1.1 protein-coding 1604476 COL28A1 collagen, type XXVIII, alpha 1 COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 193400) type A (VWA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM] 16330543,12690205,12477932 340267 NM_001037763,AC004982,AC006356,AC009402,CH236948,AJ890451,AJ890452,AJ890453,BC063866 NP_001032852,EAL24305,EAL24307,CAI67595,CAI67596,CAI67597,Q2UY09 Hs.491104 COL28 protein-coding 1601707 COL29A1 collagen, type XXIX, alpha 1 COL29A1 belongs to the class of collagens containing von Willebrand factor (VWF; 193400) type A (vWA) domains. These collagens form filaments with globular domains containing vWA motifs, which are involved in protein-ligand interactions for the organization of tissue architecture and cell adhesion (Soderhall et al., 2007).[supplied by OMIM] 18276594,17850181,14702039 256076 NM_153264,NR_022012,AC117398,CH471052,AK093199,AK123718,AM906080,AM906081,AM906082,EU085556 NP_694996,EAW79224,BAC04092,BAC85681,CAP19999,CAP20000,CAP20001,ABW81241,AAI48388,AAI53010 Hs.205403 FLJ35880|VWA4 protein-coding 734037 COL2A1 collagen, type II, alpha 1 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. 704404,704421 17195216,17163530,17009260,16978902,16877351,16650379,16395149,16329077,16192646,16133074,16088915,16076844,16001263,15930420,15922184,15895462,15731776,15671297,15643621,15522781,15489334,15466413,15316962,15179599,15102076,15082485,15054848,14729840,14644246,14299791,12939326,12935820,12732631,12713737,12637574,12544472,12511349,9468540,18288556,18177466,18065760,18040638,17994563,17721977,17683641,17653045,17580305,17568421,17509551,17437277,17394019,12477932,12429250,12429249,12393877,12360016,12223098,12205109,12200454,12186868,12096843,12011698,11973338,11847210,11812423,11746045,11724554,11716775,11708863,11705992,11447232,17335825,11445564,11406351,11368302,11292829,11007540,10982970,10797431,10772239,10745044,10729292,10706362,8486375,8423604,8406454,8325895,8317498,8244341,8024616,8019561,7981752,7977371,7874117,7847372,7829510,7757086,7757081,7699294,7550321,7520045,7487609,6320112,3997552,3857598,3840017,3800925,3571333,3021582,3011107,3004202,3002437,2987845,2825137,2803268,2753125,2745554,2714801,2587267,2572591,2543071,2446864,2355003,2339128,2300123,2229073,2081599,2059554,2010058,1999183,1985108,1975693,1971141,1905723,1677770,1637314,1621990,1556676,1544908,1444917,1439770,1429602,1397263,1374906,12847218,16189514,11121411,10678662,10406661,10382266,10196235,10085302,9811967,9800905,9711874,9685393,9659900,9409248,9354468,9334230,9101290,9066888,9061001,8948452,8863156,8778019,8737653,8723098,8723097,8723096,8660302,8609233,8529631,8507190 704421 1280 X02375,X02376,X02377,X02378,X03320,X16158,X57010,X58709,AL834148,BC007252,BC116449,BT007205,M63281,X06268,X13783,X16468,X16711,CR603203,NM_033150,NM_001844,AC004801,CH471111,CS025620,J00116,L10347,M23759,M25698,M25728,M25730,M27468,M37126,M60299,S76829,U15195,X00339,X02371 CAA26224,CAA26225,CAA26226,CAA26227,CAA27041,CAA34278,CAA34279,CAA34280,CAA34281,CAA34282,CAA34283,CAA34284,CAA40330,CAI46208,AAH07252,AAI16450,AAP35869,AAA52038,CAA29604,CAA32030,CAA34488,CAA34683,P02458,Q16299,Q16561,Q5JPA6,NP_149162,NP_001835,EAW57966,EAW57967,EAW57968,EAW57969,EAW57970,CAI61687,AAA51997,AAC41772,AAD15286,AAA52051,AAD15287,AAA58428,AAA52039,AAA52037,AAA73873,AAD14239,AAB60370,CAA25092,CAA26223 Hs.408182 GDB:118998,GDB:119063 ANFH|AOM|COL11A3|MGC131516|SEDC protein-coding 737225 COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish] 1300381,1300382,1580863 7487954,9036918,9573018,14970208,2839553,16754721,16912226,2981879,7546986,6295694,1672129,9076960,16360482,14736764,1466622,18089612,17396208,17146610,16838047,16681691,16521042,16356540,16289162,16259598,16088212,16043429,15944607,15894390,15838180,15815621,15514164,15489334,15365990,15342556,15227656,15193836,14702039,14633859,12880417,12786757,12694234,12631068,12477932,12358155,12149201,12140670,12105202,11973338,11827452,11577371,11566270,11311202,11168790,10923041,10819545,10706896,10051163,9659900,9659899,9284930,9147870,9101290,9050868,8990011,8884076,8680408,8664902,8514866,8411057,8320698,8317500,8255472,8098182,8019562,7912131,7833919,7749417,7016180,6246925,6096827,3858826,3754462,3571333,3405773,3357782,3211760,2834369,2808425,2780304,2777083,2764886,2745554,2579949,2492273,2446864,2365710,2349939,2243125,2235526,2145268,1979060,1939638,1895316,1757960,1496983,1409674,1370809,1357232,1352273,687591,557335,16189514 1300381,1300382 1281 NG_007404,AC066694,AY016295,AY054301,CH471058,M10795,M10797,M10798,M10799,M26939,M59312,S62925,AI755052,AK091853,BC028178,BP374999,CR608693,CR613119,M11134,M13146,M59227,S79877,X01655,X01742,NM_000090,X07240,X14420,X15332 NP_000081,AAY24164,AAL13167,EAX10909,EAX10910,EAX10911,AAA52002,AAA51999,AAA52000,AAA52001,AAA52040,AAA52041,AAD13937,AAH28178,AAA52004,AAA52003,AAB59383,AAB35615,CAA25821,CAA25878,CAA25879,CAA30229,CAA32583,CAA33387,P02461,Q6LBY7 Hs.443625,Hs.708235 GDB:118729 EDS4A|FLJ34534 protein-coding 1316170 COL4A1 collagen, type IV, alpha 1 This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. 1581204,1581205,1580863 7827955,7500359,6988303,6811420,6434307,6389236,6386565,4043082,3997552,3714485,3691802,3311751,3182844,2987919,2891465,2846280,2844531,2701944,2582422,2581969,2506015,2426947,2211625,2186699,1724753,1377218,7495302,12847218,12812986,14718574,18160688,18077766,18050191,17938367,17696175,17216253,16598045,16481288,16374828,16107487,15905400,15583824,15489334,15467744,15146197,15081423,15057823,12574156,12524166,12477932,12180907,12011424,11994000,11970952,11867580,11776869,11711546,10811134,10416788,10382266,9878537,9673377,9506531,9409248,9334230,9169408,9136074,8995276,8889548,8662978,8317999,8006028 1581204,1581205 1282 NM_001845,AL161773,AL390755,CH471085,J04217,M26576,M36963,X12784,AB209646,AF258349,AF363672,AF400431,AF536207,AY285780,BC047305,BC142626,BC151220,BU677787,CD613007,CN256264,CR593711,DQ464183,M10940,M10941,M11315,X03963,X05561,Y00706 NP_001836,EAX09108,EAX09109,AAA53098,CAA31276,BAD92883,AAF72630,AAK53382,AAK92480,AAM97359,AAP43112,AAH47305,AAI42627,AAI51221,ABE73157,AAA52006,AAA52042,CAA29075,CAA68698,P02462,Q14051,Q59F15 Hs.17441 GDB:119791 arresten protein-coding 1317652 COL4A2 collagen, type IV, alpha 2 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. 1580863 8317999,10625665,2846280,3345760,18050191,17557121,17554254,17216253,16368877,15743801,15522229,15489334,15231748,15146197,15057823,12477932,12180907,12021518,12011424,11867580,11711546,11683410,11259413,10926178,10416788,10382266,9878537,9673377,9506531,9409248,9334230,9136074,8995276,8006028,7827955,7500359,6988303,6811420,6389236,3997552,3692475,3582677,3198637,3182844,3089234,3025878,2844531,2439508,2426947,2211625,1724753,1377218,7495302 1284 NM_001846,AL139385,AL159153,AL161773,CH471085,J04217,M36963,X12784,AF258350,AF400430,AK025912,AY450357,AY455978,BC016166,BC035559,BC080644,BX648393,BY795218,CB045156,CB148713,CK000715,CN397790,CN397808,CN397819,CR590491,J02760,M24766,X05562,X05610 NP_001837,CAI17005,CAH72050,CAM15930,EAX09111,EAX09112,AAA53097,AAA53099,CAA31275,AAF72631,AAK92479,AAR20245,AAR18250,AAH80644,AAA58422,AAA52043,CAA29076,CAA29098,P08572,Q5T9X8 Hs.508716 GDB:119792 DKFZp686I14213|FLJ22259 protein-coding 736518 COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand. 1600924,1600928,1580863 16877525,16235097,15954103,15880327,15815621,15492988,15280517,15199166,14871398,14633133,14507670,12768082,12225806,12193605,12180907,12028435,11961012,11867580,11711546,11683410,11134255,10416788,10382266,9878537,9673377,9537506,9506531,9409248,9278443,9136074,8995276,8505332,8294492,8083201,8016138,8006044,8006028,7987301,7827955,7758473,7500359,6988303,6811420,6389236,3997552,3089234,12682293,10766752,10212244,10837460,7987396,18436078,18385178,17942953,17726307,17426256,17396119,17294221,17216251,16953426,16940319,16895672,3025878,2426947,1882840,1737849,1724753,1400291,1377218,7495302,14676276 1600924,1600928 1285 NM_031362,NM_031365,NM_031366,AB008496,AC079235,AC097662,AC107069,AF218541,AJ288487,AJ288534,AJ288535,AJ288536,AJ288537,AJ288538,CH471063,L08650,AF258351,EU268882,NM_000091,M81379,M92993,S55790,U02519,U02520,X80031 NP_000082,NP_112730,NP_112733,NP_112734,BAA25064,AAY14671,AAY24251,AAX93111,AAF63713,CAC36101,EAW70848,EAW70849,EAW70850,EAW70851,EAW70852,EAW70853,EAW70854,EAW70855,EAW70856,EAW70857,AAA52044,AAF72632,ABX71213,AAA51556,AAA21610,AAB19637,AAA18942,AAA18943,CAA56335,Q01955,Q548X1,AAI56139 Hs.570065 GDB:128351 protein-coding 1319300 COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Two transcripts exist for this gene. 1580863 10212244,11007769,18184806,17916599,17591919,17442665,17081983,16970251,16895911,16571669,16338941,16218959,16189514,15976441,15917228,15596449,15489334,14702039,14685229,12477932,10027952 10087 NM_031361,NM_005713,AB036934,AB036936,AC112183,AC116341,AF232935,CH471084,CQ855842,CQ855844,AF136450,AF232930,AK000604,AK091851,AK096854,AK292087,AY453385,AY453386,BC000102 NP_112729,NP_005704,BAB58974,BAB58977,AAG42051,EAW95757,EAW95758,EAW95759,EAW95760,EAW95761,CAH23431,CAH23432,AAD30288,AAG42046,BAC03762,BAF84776,AAR26717,AAR26718,AAH00102,Q9Y5P4 Hs.270437 GDB:9954985 CERT|CERTL|FLJ20597|GPBP|STARD11 protein-coding 1313332 COL4A4 collagen, type IV, alpha 4 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. 1580863 8253711,2211832,7523402,17942953,17396119,17216251,16970251,16953426,16895672,16338941,16235097,15954103,15880327,15280517,14507670,12768082,12631110,12325029,12225806,12180907,12028435,11867580,11711546,11683410,10416788,10382266,9878537,9792860,9673377,9537506,9506531,9409248,9195222,9136074,8995276,8787673,8365481,8006028,7987396,7962065,7827955,7500359,6988303,6811420,6389236,3997552,3089234,2426947,2318822,1724753,1639407,1429714,7495302 1286 NM_000092,AB008496,AC073149,AC079235,AF218541,CH471063,L01475,L01476,Y17397,AA831056,BC065843,BX094848,D17391,X81053 NP_000083,BAA25065,AAY24061,AAY14670,EAW70845,EAW70846,EAW70847,CAA76763,BAA04214,CAA56943,P53420 Hs.591645 GDB:132673 CA44 protein-coding 1351504 COL4A5 collagen, type IV, alpha 5 (Alport syndrome) This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene. 1600687,1580863 2349482,18083113,17554254,17396119,17294221,17277342,16941480,16940319,16613845,16507901,16284948,15954103,15780079,15583824,15149316,15365990,15211113,14993485,14592452,14531812,14514738,12796257,12732331,12478350,12477932,12218303,12180907,12105244,12021518,11961405,11711546,11462238,11223851,11198602,11051113,11004279,10862091,10821854,10684360,10563487,10561141,10416788,10382266,10094548,9878537,9848783,9673377,9506531,9452056,9195222,9150741,9136074,8940267,8829632,8651296,8651292,8406498,8356449,8301933,8120014,8081393,8006028,7853788,7599631,7500359,6988303,6811420,6389236,6386565,3997552,2426947,2380186,2339699,2004755,1724753,1689491,1672282,1377218,1376965,1363780,1352287,7495302 1600687 1287 NM_033380,NM_033381,NM_000495,AF199451,AF199452,AL031622,AL034369,AL035425,AL136364,CH471120,M63473,S71779,S75903,U04470,U04520,Z37153,BC035387,BC151846,CR618621,M31115,M58526,M90464,S59334,S69168 NP_203699,NP_203700,NP_000486,AAF66217,CAA22267,CAB90289,EAX02683,EAX02684,EAX02685,EAX02686,AAA51558,AAB31853,AAB33374,AAC27816,CAA85512,AAH35387,AAI51847,AAA52045,AAA99480,AAA52046,AAD13909,AAC60612,P29400,Q49AM6,Q9NUB7 Hs.369089 GDB:120596 ASLN|ATS|CA54|MGC167109|MGC42377 protein-coding 1343037 COL4A6 collagen, type IV, alpha 6 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. 1580863 8125972,17955302,16507901,15772651,15679046,15211113,15146197,14592452,12477932,12180907,11711546,10737800,10416788,10382266,9878537,9673377,9506531,9136074,8661006,8356449,8175748,8006028,7972123,7592929,7500359,6988303,6811420,6389236,6386565,3997552,2426947,1724753,1377218,16189514 1288 NM_033641,AL031177,AL034369,AL109943,AL136080,CH471120,D28116,D63562,U47004,BC000874,BC005305,NM_001847,BC070203,BC140855,BF726518,BQ331638,BT007228,CB050016,CN313347,CR605243,D21337,L22763,U04845 NP_001838,NP_378667,CAI43139,CAI43140,CAI42045,CAI42047,EAX02687,EAX02688,BAA09791,AAB19038,AAB19039,AAH05305,AAH70203,AAI40856,AAP35892,BAA04809,AAA16338,AAA19569,Q14031,Q5JYH8,Q6NSE8,Q9BS57,Q9UEH6 Hs.145586 GDB:222775 MGC88184 protein-coding 733435 COL5A1 collagen, type V, alpha 1 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. 1581210,1581211,1581212,734808,1580863 9042913,18443036,18353721,17965778,17407447,16431952,16430677,15164053,15136578,14970208,14702039,14504037,12477932,12145749,11741999,11278977,10796876,10722718,10602121,9840442,9683580,9582436,9501082,9099729,8575750,8181482,7646438,7346227,6693501,6501291,2496661,2203476,2071595,1722213,1572660,1571108,12847218,11751872 1581210,1581211,1581212,734808 1289 NM_000093,AL591890,AL603650,AL645768,CH471090,L38808,AB209864,AK057231,AK122763,BC008760,BC032405,D90279 NP_000084,CAI15483,CAI39858,CAI39859,EAW88128,EAW88129,EAW88130,EAW88131,EAW88132,AAA79853,BAD93101,AAH08760,BAA14323,P20908,Q59EE7,Q5SY12,Q96HC0,Q9UML4 Hs.210283 GDB:131457 protein-coding 736788 COL5A2 collagen, type V, alpha 2 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. 734809,1600694,1580863 9425231,16431952,15815621,15489334,15136578,14557872,12477932,12145749,11940702,11741999,11566270,10777716,9783710,9659900,9550630,8660106,8181482,3858826,3224983,3029669,2985598,2914927,2411731,1820205,1571108 734809,1600694 1290 J04478,M10956,M11135,M11718,X04758,Y14690,AC064833,NM_000393,AC133106,AY016288,AY016295,CH471058,J03051,M58529,AB209045,AL552427,BC015705,BC043613,BC086874 AAH86874,AAA51859,AAA52007,AAA51857,AAA52058,CAA28454,CAA75002,P05997,Q5PR22,NP_000384,AAY24185,AAL13165,AAL13166,EAX10906,EAX10907,EAX10908,AAA51858,AAC41699,BAD92282,AAH43613 Hs.445827 GDB:119064 MGC105115 protein-coding 736080 COL5A3 collagen, type V, alpha 3 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. 10722718,1571108,15316020,15136578,11423559,9443080,8535602,7346227,7115902,6501291,1916105 50509 NM_015719,AC008742,CH471106,AB209175,AF177941,BQ006883,CR623259 NP_056534,EAW84061,BAD92412,AAF59902,P25940,Q59GD4 Hs.235368 GDB:11500334 protein-coding 1352880 COL6A1 collagen, type VI, alpha 1 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. 1600934,1580863 2551668,18378883,18246005,17602442,17537636,17334655,16434404,16227896,16141002,16130093,15563506,15489334,15146197,14981181,12958705,12840783,12736748,12477932,12374585,12011280,11973338,11932968,11865138,11337467,10830953,10407855,10329467,9580662,9501082,9334230,9107679,8889548,8782832,8618682,8536701,8168508,6852033,3665927,3348212,3198591,1765372,1544908 1600934 1291 NM_001848,AJ011932,AP001479,CH471079,S75420,X92430,X99109,X99135,AU100220,BC005159,BC022236,BC032821,BC052575,BI769554,BM686857,BM707144,CN369002,CN369026,CN369041,CR601881,CR602939,CR612627,CR615228,CR622934,M20776,M27447,X06194,X15879,X15880 NP_001839,EAX09320,EAX09321,EAX09322,AAB20835,CAA67559,CAA67576,AAH05159,AAH22236,AAH32821,AAH52575,AAA52055,CAA29555,CAA33888,CAA33889,P12109,Q05BT9,Q8TBN2 Hs.474053 GDB:119065 OPLL protein-coding 1313701 COL6A2 collagen, type VI, alpha 2 This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. 1600934,1600938,1580863 17602442,16141002,16075202,15563506,15489334,15146197,14981181,12840783,12477932,12374585,12297580,12218063,12176987,12011280,11865138,11381124,10830953,9334230,9099729,8782832,8305732,8168508,6852033,3665927,3348212,3198591,2551668,1765372,1690728,1602151,1556127,1544908 1600934,1600938 1292 NM_001849,NM_058175,NM_058174,AP001101,AP001467,AP001471,CH471079,CR611112,CR618549,CR618828,CR619670,CR624946,CR625689,CR626094,M34570,M34572,M34573,X06195,X15977,M81834,M81835,M81836,S75462,AF218010,AI275476,AK128695,AL044156,AL096746,AL360197,AY029208,BC002484,BC065509,BM989656,BT006913,CN352095,CN352155,CR536573,CR590108,CR590704,CR597541,CR604559,CR607797 NP_001840,NP_478055,NP_478054,EAX09316,EAX09317,AAA35621,AAA35618,AAA35619,AAA35620,CAA29556,CAA34099,P12110,Q6FHW5,Q7LCA7,Q9BUM6,AAB20836,AAG17252,CAB46421,AAA52056,AAH02484,AAH65509,AAP35559,CAG38810,EAX09318 Hs.420269 GDB:119793 DKFZp586E1322|FLJ46862|PP3610 protein-coding 1318630 COL6A3 collagen, type VI, alpha 3 This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the alpha 1 and 2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy. In addition to the full length transcript, four transcript variants have been identified that encode proteins with N-terminal globular domains of varying sizes. 1600940,1580863 8782832,17918257,16613849,16335952,3198591,1689238,1339440,16141002,15965965,15563506,15146197,14702039,12077460,12011280,11992252,11785962,9536084,9520112,9516440,9265624,8862926,8805527,8387021,7533217,3665927,3348212 1600940 1293 NM_057167,AK092021,AL698472,AL706147,AL710464,BC033174,BQ446249,BX641155,BX647500,CN281809,CR601767,M20778,M27449,S49432,X06196,X52022,NM_057166,NM_057165,NM_004369,NM_057164,AC112715,AC112721,CH471063,AB209636 NP_476508,AAH33174,CAE46068,CAH56139,AAA52057,AAB24261,CAA29557,CAA36267,P12111,Q53QF4,Q53QF6,Q59F25,Q63HQ4,Q6MZG6,Q8N4Z1,NP_476507,NP_476506,NP_004360,NP_476505,AAY14906,AAY24135,EAW71103,EAW71104,EAW71105,EAW71106,EAW71107,EAW71108,EAW71109,EAW71110,BAD92873 Hs.233240 GDB:119066 DKFZp686D23123|DKFZp686K04147|FLJ34702 protein-coding 1322869 COL7A1 collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. 1600946,1580863 8170945,9375848,18429782,17916216,17900868,17525268,17495952,17425959,17336503,17229600,17106611,16971478,16923137,16500083,16470588,15888141,15816848,15810887,15774758,15365990,15113589,14727126,12787118,12485454,12353709,12060403,11986329,11874498,11843659,11168577,11167698,11142768,10836608,10821839,10737800,10652000,10620140,10583163,10504458,10469344,10383749,10233777,10232408,10232407,10232406,10084325,9989793,9892921,9881948,9856844,9856843,9840442,9804332,9740253,9668111,9444387,9326325,9245798,9215684,9169408,8757758,8644730,8644729,8618021,8618018,8592061,8541842,8513326,8499916,8422754,8088784,8051117,7963647,7883979,7861014,7513737,5910871,2653224,2537292,1871109,1567409,1469284,1307247 1600946 1294 NM_000094,NG_007065,AC121252,CH471055,L23982,AB209645,BQ300155,D13694,L02870,L06862,M65158,M96984,S51236 NP_000085,EAW64893,EAW64894,EAW64895,EAW64896,EAW64897,AAA58965,BAD92882,BAA02853,AAA75438,AAA89196,AAA96439,AAA36357,AAB24637,Q02388,Q59F16 Hs.476218 GDB:128750 EBD1|EBDCT|EBR1 protein-coding 1319668 COL8A1 collagen, type VIII, alpha 1 This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same isoform have been observed. 1580863 2029894,17721297,16936088,16713569,16189514,15489334,12782141,12482545,12477932,12107410,11689488,10823842,10731515,10666376,9705353,9438378 1295 NM_020351,AC055723,AC069222,CH471052,AF170702,AY550974,BC013581,BQ774361,BT009917,CA393523,X57527,NM_001850 P27658,Q53XI6,ABM84799,NP_001841,NP_065084,EAW79837,EAW79838,EAW79840,AAF89665,AAT52220,AAH13581,AAP88919,CAA40748 Hs.654548 GDB:128104 C3orf7|MGC9568 protein-coding 1313058 COL8A2 collagen, type VIII, alpha 2 1580863 2019595,18024822,17721297,17471329,16936088,16908762,15914606,15851557,15175909,14990571,14702039,12782141,12477932,11689488,10686422,9705353,9438378,2029894 1296 NM_005202,AL138787,CH471059,M60832,AK074129,AK090924,BC096295,BC096296,BC096297,BC099645 NP_005193,EAX07388,AAA62822,BAB84955,AAH96295,AAH96296,AAH96297,AAH99645,P25067,Q4VAP9,Q4VAQ0,Q4VAQ1,Q5JV31 Hs.353001 GDB:127812 FECD|FLJ00201|MGC116970|MGC116972|PPCD|PPCD2 protein-coding 1298223 COL9A1 collagen, type IX, alpha 1 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene. 738111,1600949,1580863 3473493,9707347,17881354,17553797,17548304,16909383,16718610,16344560,15922184,15880806,15802199,15694129,15523498,15489334,15047691,14702039,14574404,12477932,12399468,12107410,11565064,11308397,8660302,8244386,7829101,3542919,3294062,2465149,2446864,2209617,1690886,1429648 738111,1600949 1297 NM_001851,NM_078485,AF036110,AF036111,AF036112,AF036113,AF036114,AF036115,AF036116,AF036117,AF036118,AF036119,AF036120,AF036121,AF036122,AF036123,AF036124,AF036125,AF036126,AF036127,AF036128,AF036129,X54412,X54413,AF036130,AL080275,AL160262,CH471051,M32133,M32135,M32137,M34534,AK097582,AK125738,AU118474,AW022764,BC008620,BC015409,BC063646,BI494750,BI495179,CA392556 NP_001842,NP_511040,AAC33527,AAC33528,CAA38276,CAA38277,P20849,Q5TF53,CAI19589,CAI19590,CAI19591,CAI42320,CAI42321,EAW48822,EAW48823,EAW48824,EAW48825,EAW48826,EAW48827,AAA53474,AAA53475,AAF67394,AAH15409,AAH63646 Hs.590892 GDB:119794 DJ149L1.1.2|EDM6|FLJ40263|MED protein-coding 1315981 COL9A2 collagen, type IX, alpha 2 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. 1600952,1580863 10364514,18469698,18246003,18080148,17471097,17024315,16710414,16586133,16440132,16371896,16249825,16133074,15922184,15625128,15523498,15167667,12782139,12244547,11805640,11724554,11565064,11308397,10411504,9707347,8528240,8454052,8244386,7942845,7829066,3473493,2446864,1429648 1600952 1298 NM_001852,AF019406,AL050341,CH471059,BC041479,BC065715,BC136326,BC136327,M95610 NP_001843,AAC33512,EAX07224,EAX07225,EAX07226,EAX07227,EAX07228,EAX07229,EAX07230,EAX07231,EAX07232,AAI36327,AAI36328,AAA80977,Q14055 Hs.418012 GDB:138310 DJ39G22.4|EDM2|MED protein-coding 1321049 COL9A3 collagen, type IX, alpha 3 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia. 1600695,1580863 8586434,18469698,17701042,17471097,16586133,16133074,15922184,15917166,15523498,15489334,15167667,12782139,12601188,12477932,12461395,12096843,11780052,11724554,11565064,11308397,10678658,10655510,10428822,10090888,9164858,3542919,3473493,2446864,1429648,16189514 1600695 1299 X91013,NM_001853,AF026801,AF026802,AL035669,CH471077,AK075240,BC004412,BC007574,BC011705,CR611329,CR619945,L41162 Q14050,CAA62495,Q4VXW0,Q96IF4,Q9BT15,ABM83872,ABM87193,NP_001844,AAD47357,CAC12750,CAI95767,EAW75333,EAW75334,AAH04412,AAH07574,AAH11705,AAC41947 Hs.126248 GDB:625400 DJ885L7.4.1|EDM3|FLJ90759|IDD|MED protein-coding 1316172 COLEC10 collectin sub-family member 10 (C-type lectin) This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. 1580863 12450124,10224141,12975309,12477932 10584 NM_006438,AC080033,AC107953,CH471060,AB002631,AK291791,AY359038,BC103815,BC103816,R97432 NP_006429,EAW91979,EAW91980,BAA81747,BAF84480,AAQ89397,AAI03816,AAI03817,Q9Y6Z7 Hs.176615 GDB:9957686 CLL1|MGC118794|MGC118795 protein-coding 1320152 COLEC11 collectin sub-family member 11 17179669,12975309,12477932 78989 NM_024027,AC010907,CH471053,AB119525,AB119650,AB119651,AB119652,AB119684,AB119685,AB119686,AB119687,NM_199235,AY358439,BC000078,BC009951,BF316908,CR599770,CR604552,CR612268,CR936641 NP_954705,NP_076932,AAY24235,EAX01052,EAX01053,EAX01054,EAX01055,BAF43301,BAF43302,BAF43303,BAF43304,BAF79604,BAF79605,BAF79606,BAF79607,AAQ88805,AAH00078,AAH09951,CAI56781,Q9BWP8 Hs.32603 GDB:11508905 CL-K1-I|CL-K1-II|CL-K1-IIa|CL-K1-IIb|DKFZp686N1868|MGC3279 protein-coding 1347237 COLEC12 collectin sub-family member 12 This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that can bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. In addition, these receptors can recognize oxidized phospholipids so they may also participate in removing oxidatively damaged or apoptotic cells. 1580863 11564734,15845541,12761161,12601552,12477932,11162630 81035 NM_130386,AP000915,AP005240,CH471113,AA903451,AB005145,AB034251,AB038518,AB052103,AL713657,BC060789,CR610483 NP_569057,EAX01728,EAX01729,BAB72147,BAD83592,BAB39147,BAB39148,CAD28466,AAH60789,Q5KU26 Hs.464422 GDB:11505810 CLP1|NSR2|SCARA4|SRCL protein-coding 1350668 COLEC13 collectin sub-family member 13 408219 1342828 COLEC14 collectin sub-family member 14 408220 1343274 COLEC2 collectin sub-family member 2 50639 GDB:11508595 1350468 COLEC8 collectin sub-family member 8 (conglutinin) 50638 GDB:10796242 1347762 COLEC9 collectin sub-family member 9 (collectin 43) 50637 GDB:10796243 1352305 COLOT1 collagen (type VI, alpha 1), overlapping transcript 1 10830953 10596 AF076431 AAD51089 GDB:9957699 KGC1 protein-coding 736660 COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. 704404,1300297,1580863 9689136,18180250,17300939,16256971,15526038,15489334,15159418,14759258,12609505,12477932,11865139,10679527,10665486,10529218,10441569,9758617 1300297 8292 NM_080539,NM_080541,NM_080544,NM_005677,NM_080538,AC027125,AC027129,AF229118,AF229122,AF229124,AF229126,CH471055,AF057036,AI246303,AI554171,AJ225895,AK128401,AK289688,AY150334,AY150335,AY150336,AY150337,AY150338,AY150339,BC074828,BC074829,BC126363,BX500613 NP_536800,NP_536802,NP_536805,NP_005668,NP_536799,AAF43196,AAF43200,AAF43195,AAF43197,AAF43198,AAF43199,AAF43201,AAF43202,EAW64235,EAW64236,EAW64237,EAW64238,EAW64239,EAW64240,EAW64241,EAW64242,EAW64243,EAW64244,EAW64245,EAW64246,EAW64247,EAW64248,EAW64249,EAW64250,AAC39927,CAA12648,BAF82377,AAO06814,AAO06815,AAO06816,AAO06817,AAO06818,AAO06819,AAH74828,AAH74829,A0AVH7,Q9Y215 Hs.146735 GDB:9864802 EAD protein-coding 1323402 COMMD1 copper metabolism (Murr1) domain containing 1 15799966,17919502,17309234,17183367,17097678,16649058,16573520,16305817,16283886,15489334,15205742,14685266,14685242,14645214,14568250,12968035,12547404,12477932,11809725,11329013,9373149,9001233,8125298 150684 NM_152516,AC018462,AC107081,AC116652,CH471053,AB178811,AK223607,BC009266,BC022046,BG182961,BG183486,BG215225,D85433 NP_689729,AAX93080,AAY24141,AAY24054,EAW99981,BAD18972,BAD97327,AAH09266,AAH22046,Q53EN2,Q53Q75,Q53QP8,Q53SJ8,Q8N668 Hs.468702 C2orf5|MGC27155|MURR1 protein-coding 1346630 COMMD10 COMM domain containing 10 15799966,15489334,14702039,12477932,11042152 51397 NM_016144,AC018752,AC034236,AC109456,CH471086,AF161423,AK002147,AY542165,BC005179,CR609736,CR611628,AF078857 NP_057228,EAW48941,EAW48942,EAW48943,AAD44489,AAF28983,BAA92108,AAS22247,AAH05179,Q9Y6G5 Hs.483136 FLJ11285|PTD002 protein-coding 1319139 COMMD2 COMM domain containing 2 15799966,15489334,12477932,11042152,8889548 51122 NM_016094,AC069216,CH471052,AF059618,AF125096,AY542158,BC001228,BC022206,BC046131,BC093077,BI792102,BM981499,BQ216242,CR613367 NP_057178,EAW78866,EAW78867,AAG43117,AAD39913,AAS22240,AAH46131,AAH93077,Q561V4,Q86X83 Hs.591315 HSPC042|MGC57611 protein-coding 1349755 COMMD3 COMM domain containing 3 1580863 15799966,15489334,12477932,11042152 23412 NM_012071,AL158211,CH471072,AF078848,AF201948,AK128789,AY542159,BC022898,BG496810,BQ930333,BX647275,CR596018,CR610659,CR612205,CR623274,CR625344 NP_036203,CAI15950,CAI15951,CAI15952,CAI15953,EAW86149,EAW86155,AAD44480,AAF17240,AAS22241,AAH22898,Q5T8Y9,Q9UBI1 Hs.534398 BUP|C10orf8|DKFZp686K0399|FLJ45471 protein-coding 1314525 COMMD4 COMM domain containing 4 15799966,11256614,15489334,14702039,12477932,11230166,9373149,8125298 54939 NM_017828,AC068338,CH471136,AK000459,AK057145,AK225716,AL136872,AY542160,BC000837,BC033744,BC040944,BC068998,BC069195,BI829484,CR533452,CR599145,CR603489,CR618150,CR618327 NP_060298,EAW99261,EAW99262,EAW99263,BAA91178,CAB66806,AAS22242,AAH00837,AAH68998,CAG38483,Q9H0A8 Hs.351327 FLJ20452 protein-coding 1348607 COMMD5 COMM domain containing 5 1580863 15799966,15489334,14702039,12477932,11871861,10931946,10918053 28991 NM_014066,NM_001081004,AF235103,CH471162,AF113540,AF290195,AK001477,AK023070,AW137480,BC002672,BC003055,NM_001081003,BC065729,BG705627,BM924244,BU508224 NP_001074472,NP_054785,NP_001074473,EAW82033,EAW82034,EAW82035,EAW82036,EAW82037,AAF14877,AAG09915,BAA91714,BAB14389,AAH02672,AAH03055,AAH65729,Q9GZQ3 Hs.631856 FLJ13008|HCARG|HT002|MGC72046 protein-coding 1606132 COMMD6 COMM domain containing 6 15799966,16573520,15489334,15057823,12477932,11829485 170622 CH471093,AF086081,AF169971,AK000009,AW516002,AY542161,BC110837,BC117391,BM476717,BX538116,CD175553,DB487154,W94914,NM_203495,NM_203497,AL137244 CAI12417,CAQ09794,CAQ09795,EAW80539,EAW80540,EAW80541,AAQ13599,AAS22243,AAI17392,Q5TBK3,Q7Z4G1,NP_987091,NP_987093 Hs.508266 Acrg protein-coding 1317181 COMMD7 COMM domain containing 7 15799966,15489334,14702039,12477932,11780052,10393949 149951 NM_053041,DN993528,NM_001099339,AL035071,BX640505,CH471077,CR383702,AJ012490,AK027893,AK096307,AK097059,AY542162,BC000628,BC022073,BC047440,BG715846,BQ006261 Q49AU6,Q86VX2,NP_444269,NP_001092809,CAI19095,EAW76357,EAW76358,EAW76359,EAW76360,EAW76361,EAW76362,EAW76363,EAW76364,CAI95302,BAB55436,AAS22244,AAH00628,AAH22073,AAH47440 Hs.408427 C20orf92|FLJ14987|MGC33315|dJ1085F17.3 protein-coding 1313413 COMMD8 COMM domain containing 8 15799966,15489334,14702039,12477932 54951 NM_017845,AC107398,CH471069,AF182421,AK000509,AY542163,BC008371,BC015145,BC019826,CR594820,CR596169,CR598833,CR607718 NP_060315,EAW93033,EAW93034,AAG14957,BAA91216,AAS22245,AAH08371,AAH15145,AAH19826,Q9NX08 Hs.23956 FLJ20502 protein-coding 1317050 COMMD9 COMM domain containing 9 15799966,15489334,14702039,12477932,11230166,11042152,9373149,8125298 29099 NM_001101653,NM_014186,AC087277,CH471064,AF161515,AI090006,AK055668,AK223213,AK290065,AL136688,AY542164,BC010892,BC092458,BC108685,BG702189,BM172201,CR590294,CR595405,CR599139,CR612003,CR614360 NP_001095123,NP_054905,EAW68128,EAW68129,EAW68130,AAF29130,BAD96933,BAF82754,CAB66623,AAS22246,AAH10892,Q53FR9,Q9P000,ABM83598,ABM86840 Hs.279836 FLJ31106|HSPC166 protein-coding 736605 COMP cartilage oligomeric matrix protein The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). 1600702,1600705,1580863 7713493,7670472,17894003,17588949,17579668,17195216,17033713,16802351,16542502,16520029,16344560,16340129,16214313,16051604,15880723,15749701,15694129,15523498,15489334,15472220,15266613,15057824,12819015,12792737,12768438,12483304,12477932,12225811,11891674,11782471,11746045,11746044,11565064,11501943,11084047,10405447,9921895,9887340,9749943,9685393,9463320,9373149,9184241,9021009,8307576,8279467,8125298,7670471,7533784 1600702,1600705 1311 NM_000095,NG_007070,AC003107,CH471106,S79499,S79500,AB086984,AK074508,AK223216,AK290595,AU120397,BC033676,BC110847,BC125092,CR621154,L32137 NP_000086,AAB86501,EAW84735,EAW84736,EAW84737,AAB35269,AAB35270,BAC53888,BAC11031,BAD96936,BAF83284,AAI10848,AAI25093,AAA57253,P49747,Q2NL86,Q53FR6,Q8N2R4,ABM84218,ABM87644 Hs.1584 GDB:344263 EDM1|EPD1|MED|MGC131819|MGC149768|PSACH|THBS5 protein-coding 737102 COMT catechol-O-methyltransferase Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. The transcript variants are formed through the use of alternative translation initiation sites and promoters. 1300384,1300383,1359089,1580863,1300298,2289709,2289710,2289711,2289713,2289714,2289716,2289717,2289719,2289720,2289721,2289722,2289723,2289724,2289726,2289729,2289734,2289780,2289781,2289788,2289789,1300048,2289712,2289715,2289718,2289725,2289740,2289742,2289747,2289785,2289787 17220335,17217814,17217235,17211439,17208375,17206495,17205121,17202556,17198907,17187009,17185601,17176215,17173666,17156920,17146014,17143180,17135598,17123785,17123481,17113268,17109713,17106420,17079080,17077994,17075359,17071544,17063156,17047485,17044099,17034018,17029783,17028449,17025189,17018638,17016617,17014828,17014827,17006672,16985250,16984965,16971197,16969494,16969277,16969276,16969275,16648777,16623937,16611807,16610957,16608396,16596327,16595228,16584839,16582043,16569655,16564429,16542735,16542388,16542182,16538182,16527884,16525418,16511839,16505837,16499480,16492910,16490416,16483362,16476412,16475806,16453988,16443508,16102234,16094249,16092759,16077979,16043283,16043133,16040257,16037677,16027741,16026865,16006997,15987428,15985686,15979789,15973162,15965969,15965967,15956988,15941966,15941945,15936529,15935994,15927391,15901995,15901785,15900232,15900225,15900212,15896265,15866551,15862471,15852364,15846854,15824744,15774541,15753616,15747357,15734954,15717291,15673663,15668720,15668497,15654584,15654505,15652872,15645182,15626819,15613245,15596044,17760745,17728665,17718510,17716874,17707921,17707347,17706335,17704407,17700596,17689985,17687265,17686583,17682677,17657431,17640440,17636223,17636131,17627014,17608961,17606708,17604122,17602170,17601704,17599809,17588591,17588204,17577421,17573783,17562079,17548664,17548151,17547583,17526059,17525974,17525973,17522626,17521892,17517149,17516763,17510945,17507624,17507616,17504906,17504250,17504246,17497175,17493297,17483451,17482701,17477346,17475791,17466074,17453062,17451372,17448448,17442488,17442187,17429315,17427186,17419009,17417063,17407801,17385677,17383818,17372243,17372239,17363961,17363580,17357147,17337160,17325717,17309660,17301257,17299513,17295924,17270484,17266899,17264883,17264842,8968737,15231747,1707278,18486967,18466879,18442637,18440204,18436194,18424907,18423838,18407467,18390078,18387741,18384078,18382477,18381357,18379473,18374902,18366720,18351593,18350156,18339359,18328676,18324659,18317466,18302304,18294618,18287936,18270997,18270970,18261249,18258609,18257092,18252743,18250258,18235427,18214865,18214863,18213617,18201871,18199630,18198266,18197080,18196244,18194840,18194538,18193072,18192898,18192686,18189241,18189003,18186041,18184800,18182829,18180754,18178571,18164902,18163391,18163386,18160646,18094258,18092319,18081002,18075475,18064318,18063308,18057197,18046978,18045777,18037454,18037170,18023073,17994190,17980711,17978319,17973921,17962094,17961261,17949513,17948281,17945417,17944104,17931436,17928119,17924258,17909067,17893706,17885625,17869399,17850881,17850222,17767149,17763983,17761405,16969269,16956909,16950222,16939639,16936704,16930369,16921721,16921496,16917939,16905560,16899231,16897602,16896040,16884927,16876132,16869230,16865041,16860541,16857316,16850246,16848906,16837133,16837108,16829779,16828262,16823382,16816940,16815691,16800379,16786032,16780746,16756688,16741933,16734939,16730930,16730334,16725119,16712949,16698101,16691129,16688411,16679343,16676224,16674809,16674552,16672066,16427255,16424823,16417624,16414251,16406650,16395295,16387984,16362639,16361958,16360899,16356553,16330500,16284375,16281377,16275815,16260521,16257094,16247488,16234808,16233957,16231731,16214922,16202920,16191465,16189514,16142442,16135635,16130011,16127282,16126332,16118784,16109444,16103451,15591802,15584875,15583953,15583702,15572182,15570503,15569909,15567073,15548428,15538046,15537663,15537444,15522252,15520843,15505638,15489334,15488308,15465976,15461802,15457497,15455371,15450911,15450787,15388245,15386537,15382051,15355491,15341023,15340358,15337664,15337663,15319576,15309313,15300652,15292670,15285606,15283009,15274053,15261699,15241822,15229337,15211633,15211623,15203287,15199113,15182372,15129369,15127078,15124004,15118357,15115916,15108175,15098000,15033250,15009906,15005715,14989982,14966473,14754787,14745454,14744739,14729580,14706432,14681918,14673217,14656940,14656021,14654758,14634838,14612555,14610521,14582147,14575568,14520706,14520117,14508827,14504192,12971967,12963670,12903043,12900951,12842307,12842306,12815746,12815739,12815736,12815735,12815660,12810635,12799619,12782971,12740593,12739038,12729939,12727796,12718576,12712467,12711403,12707935,12673581,12668354,12627475,12611827,12605099,12602902,12595695,12579508,12574216,12571159,12566168,12535946,12497608,12477932,12476424,12467945,12465073,12415427,12402217,12385014,12372660,12371153,12360111,12360102,12359690,12270650,12192614,12168735,12164325,12126868,12116182,12090821,12082558,12036914,12036913,12029502,12011284,11992560,11992559,11990384,11927842,11925305,11907189,11900601,11873938,11865133,11840516,11773866,11772685,11706521,11705709,11693181,11597779,11581117,11577006,11556837,11525422,11525417,11502905,11443519,11434504,11426511,11171904,11166081,11163295,11150892,11142424,11140838,11121178,11121168,11058906,11054777,11054766,10854207,10391209,9030772,8941353,8886163,8807664,8786123,8055944,8020475,2089098,1993083,1875781,1847521,1765063,1572656,11401913,11381111 1300384,1300383,1359089,1300298,2289709,2289710,2289711,2289713,2289714,2289716,2289717,2289719,2289720,2289721,2289722,2289723,2289724,2289726,2289729,2289734,2289780,2289781,2289788,2289789,2289712,2289715,2289718,2289725,2289740,2289742,2289747,2289785,2289787 1312 CR612170,CR612917,CR613786,CR616943,CR624969,CR625831,EF103918,EF103922,EF217321,EF217322,M58525,M65212,M65213,NM_000754,NM_007310,AC000080,AC000090,AC005663,AY341246,CH471176,Z26491,AK130031,AK290440,BC000419,BC005867,BC011935,BC100018,BT007125,CR456422,CR456997,CR590298,CR595297,CR602287,CR603360,CR603785,CR609952,CR610047,CR610886 ABN14344,ABN14345,AAA68929,AAA68927,AAA68928,P21964,Q7KZP0,Q9BWC7,CAK54414,CAK54713,ABM84337,ABM87731,NP_000745,NP_009294,AAP88929,EAX03010,EAX03011,CAA81263,BAF83129,AAH00419,AAH05867,AAH11935,AAI00019,AAP35789,CAG30308,CAG33278 Hs.370408,Hs.704514,Hs.707998 GDB:119795 protein-coding 1315279 COMTD1 catechol-O-methyltransferase domain containing 1 737633,1580863 12975309,12477932,15489334,15164054,14702039 737633 118881 NM_144589,AL390034,CH471083,AK074421,AK290452,AY358476,BC023663,BC047774,CR602194,CR625911 NP_653190,EAW54575,EAW54576,BAB85077,BAF83141,AAQ88840,AAH23663,AAH47774,Q86VU5 Hs.355333 FLJ23841 protein-coding 1344337 COP clathrin-ordered protein 1313 GDB:127345 1606185 COP1 caspase-1 dominant-negative inhibitor pseudo-ICE 16920334,16354923,15383541,14702039,12477932,11821383,11536016,11432859 114769 NM_001017534,NM_052889,AP001153,CH471065,AF367017,AK125640,AY885669,BC033638,BC070196,BC104635,BC117478,BC117480 NP_001017534,NP_443121,EAW67062,AAK71682,AAW78563,AAI17479,AAI17481,Q5EG05,Q96RJ9,AAI41474,AAI48761 Hs.348365 COP|PSEUDO-ICE protein-coding 1321477 COPA coatomer protein complex, subunit alpha In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. 1580863 16956762,11031247,1429581,9115636,8533093,8599108,17081983,16964243,15592455,15302935,14527956,12586295,12477932,12388752,12379802,11323436,9751720,9533652,9365789,9207175,9186507,8940050,8858162,8703076,8647451,8537409,8355790,9482852 1314 NM_001098398,NM_004371,AL445230,AL513282,CH471121,CQ871262,AK129830,BC037941,BC038447,DC308331,U24105 NP_001091868,NP_004362,CAI15004,CAI15005,CAI12454,CAI12455,EAW52723,EAW52724,EAW52725,CAH56812,AAH38447,AAB70879,P53621,Q5T201,Q8IXZ9 Hs.162121,Hs.685025 GDB:4642787 FLJ26320|HEP-COP protein-coding 731922 COPB1 coatomer protein complex, subunit beta 1 1580863 10199403,16956762,11031247,1840503,8533093,8599108,17140284,16713569,16381901,16189514,15489336,15489334,14702039,12582157,12486083,12477932,12463424,12437930,12388752,12134073,11897493,11884415,11703931,11409905,11323436,11230166,11076863,11056392,10982407,10921873,10903204,10720466,10318838,9207175,8940050,8601610,8355790,7982906,1898986,11463741,11264386,9017839,15202998,9482852 1315 AC018523,CH471064,AF084457,AF111807,AK001203,AL136593,BC012572,BC037280,CR605573,X82103,NM_016451 EAW68481,EAW68482,EAW68483,EAW68484,EAW68485,AAD41240,AAL39009,CAB66528,AAH37280,CAA57622,P53618,CAL38259,ABM83405,ABM86616,NP_057535 Hs.339278 GDB:4642789 COPB|DKFZp761K102|FLJ10341 protein-coding 732794 COPB2 coatomer protein complex, subunit beta 2 (beta prime) The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM] 1580863 17220478,17353931,16956762,8335000,11031247,11030615,8533093,8599108,17081983,15489334,14743216,14527956,12665801,12477932,12388752,11323436,10982407,10921873,9858824,9360998,8940050,8537409,8334999,16189514 9276 NM_004766,NR_023350,AC024933,CH471052,CS185545,BC000326,DC347783,DC385126,X70476 NP_004757,EAW79039,EAW79040,CAJ42726,AAH00326,CAA49900,P35606 Hs.75724 GDB:9955591 beta'-COP protein-coding 1315598 COPE coatomer protein complex, subunit epsilon The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 16956762,11031247,8533093,8599108,17721809,17140284,16381901,15489336,15489334,15057824,14702039,12665801,12477932,12388752,11323436,11256614,11230166,11076863,10921873,10531302,10469566,9373149,8858162,8355790,8125298,16189514,9482852 11316 NM_199442,NM_199444,NM_007263,AC002985,AC005197,CH471106,AF092438,CR604662,CR606967,CR607034,CR607244,CR608364,CR609957,CR610901,CR612461,CR612998,CR613779,CR614039,CR614136,CR614529,CR618263,CR619382,AI680336,AJ131182,AJ249366,AK023303,AK222584,AL136928,BC003155,BC007250,BC017285,BC052619,BI520280,CR456886,CR590464,CR592877,CR593512,CR594651,CR597570 NP_955474,NP_955476,NP_009194,AAB81543,AAC24612,EAW84748,EAW84749,EAW84750,EAW84751,EAW84752,EAW84753,EAW84754,EAW84755,EAW84756,EAW84757,O14579,Q53HJ6,Q6IBB8,Q7Z4Z1,Q9H8T6,Q9UGP6,CAL38636,ABM84343,ABM87734,AAP97213,CAA10316,CAB55628,BAB14516,BAD96304,CAB66862,AAH03155,AAH07250,AAH17285,CAG33167 Hs.10326 GDB:9957949 FLJ13241|epsilon-COP protein-coding 1345265 COPG coatomer protein complex, subunit gamma 1580863 17353931,16956762,11031247,8533093,8599108,15489334,14702039,14690497,14527956,12477932,12388752,12134073,11893085,11884415,11056392,11018518,10982407,10931946,10921873,10720466,8940050,9482852 22820 NM_016128,AC137695,CH471052,AB047846,AF100756,AK001724,AK024721,AK025147,AK123939,AK291693,BC020498,BC066650,BU521557 NP_057212,EAW79267,EAW79268,EAW79269,EAW79270,BAB17657,AAD43020,BAF84382,AAH20498,AAH66650,Q54AC4,Q8WUI6,Q9Y678 Hs.518250 GDB:9957158 COPG1|FLJ21068 protein-coding 1347391 COPG2 coatomer protein complex, subunit gamma 2 1580863 17353931,11056392,11030615,14702039,12747765,12690205,12477932,11920156,11893085,11884415,11409905,10995575,10921873,10556286,10318838,9751720,8940050,1898986,16189514 26958 AB047847,AF157833,AF207598,AF308295,AI566718,AK002086,AK022934,AK024414,AK291409,BC017443,BC110796,BG470623,BG704011,BX089636,BX353590,CR593178,NM_012133,AC007938,AC009274,AC090520,AF324497,CH236950,CH471070 BAB17658,AAF14271,AAF19433,AAG48262,BAA92078,BAB14315,BAF84098,AAH17443,AAI10797,Q2NLA0,Q54AC3,Q8WVW8,Q96PK0,Q9H279,Q9H9B7,Q9HAE1,Q9NUP3,Q9UBF2,NP_036265,AAL17778,EAL24085,EAW83769,EAW83770 Hs.532231,Hs.596576 GDB:10795422 2-COP|FLJ11781 protein-coding 1351075 COPG2IT1 coatomer protein complex, subunit gamma 2, intronic transcript 1 10995575 53844 GDB:10796296 1353959 COPS2 COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) 17438371,9535219,7776974,18174916,17929852,17570542,17339334,15489334,15304329,15173382,15062575,14647295,12732143,12628923,12615944,12522100,12477932,12220626,11337588,11285227,11114242,10991940,10931946,10713076,10585392,10207062,10087198,9707402,9373149,8125298,17353931,16189514 9318 AC013452,CH471082,AB209799,AF084260,AF100762,AF120268,AF212227,AK222590,BC012629,CR542063,CR601131,CR604522,CR614722,L40388,NM_004236 ABZ92273,NP_004227,EAW77364,EAW77365,EAW77366,BAD93036,AAC34122,AAD43026,AAD30269,AAK26250,BAD96310,AAH12629,CAG46860,AAC41734,P61201,Q53HJ0,Q59EL2 Hs.369614 ALIEN|CSN2|SGN2|TRIP15 protein-coding 1350505 COPS3 COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580863 15861129,11337588,11285227,11114242,10766246,10191102,9707402,17353931,16189514,12615944,9535219,15489334,15325100,14647295,12917637,12732143,12665801,12628923,12620389,12508107,12477932,12220626,11997338,11418127 8533 NM_003653,AC055811,CH471196,AF031647,AF098109,BC001891,BQ018146,CR590945,CR594817,CR595552,CR597915,CR599192,CR600698,CR602972,CR608585,CR611420,CR613300,CR616766,CR617410,CR618089,CR619826,CR622277 NP_003644,EAW55711,EAW55712,EAW55713,AAC14197,AAD41247,AAH01891,Q9UNS2 Hs.6076 GDB:9865741 SGN3 protein-coding 1345570 COPS4 COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. 1304475,1580863 12732143,12628923,12615944,12477932,12220626,11824616,11567875,11337588,11285227,10991940,10585392,9847074,9707402,9535219,9373149,8125298,11114242,16189514,17353931,15489334,14702039,14647295 1304475 51138 NM_016129,AC021105,AC073840,AC108473,CH471057,AF100757,AK001148,AK001210,AK024005,AK094238,AK223178,BC004302,BC009292,BC093007,CD690475,CR595705,CR600458,CR600599,CR605209,CR607122,CR609378,CR620449,CR620923,CR625192 NP_057213,EAX05921,EAX05922,AAD43021,BAA91555,BAD96898,AAH04302,AAH09292,AAH93007,Q53FV3,Q9BT78 Hs.190384 GDB:11505812 MGC10899|MGC15160 protein-coding 1321125 COPS5 COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. 18199546,17914096,17583730,17133595,17052710,17027978,16936264,16882664,16713569,16624822,16483597,16410250,16300740,16187115,16122907,16000397,15994944,15899841,15688030,15671554,15489334,15353483,15304329,15234121,15231748,15154004,15126503,14993265,14737182,14732868,14719054,14707456,14702039,14666612,14647295,14500717,12860294,12732143,12702588,12628923,12477932,12220626,12183637,12119282,11818334,11812799,11709497,11707426,11704659,11337588,11285227,11089976,10766246,10722692,10362352,10086358,9707402,9535219,16189514,12615944,12032852,12082530,15480426,15887118,8837781,9341143,18346358 10987 NM_006837,AC109335,AC110998,CH471068,AA203444,AB209134,AK056967,AK128519,BC001187,BC001859,BC007272,BI752436,BX648542,CR541678,CR591431,CR604403,CR618159,U65928,U70734 NP_006828,EAW86928,EAW86929,EAW86930,EAW86931,BAD92371,AAH01187,AAH01859,AAH07272,CAH10375,CAG46479,AAB16847,AAD03468,Q59GH5,Q92905 Hs.491912 GDB:9958687 CSN5|JAB1|MGC3149|MOV-34|SGN5 protein-coding 1626577 COPS5P COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) pseudogene 135270 NG_003102,AL138731 pseudo 1320520 COPS6 COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. 737633 17337451,16169070,15757663,15489334,15383276,14667819,14647295,12732143,12690205,12628923,12615944,12477932,12446680,12237292,12220626,12110603,11531413,11337588,11285227,11244567,10958988,10921877,9707402,9535219,9520381,9341143,9094673,8195203,7666531,7494303,7474100,7474080,1222062,15832179,16189514 737633 10980 NM_006833,AC073842,CH236956,CH471091,BC002520,BI113801,CB990467,CD367717,CR592466,CR593213,CR593453,CR611209,CR617171,U70735 NP_006824,EAL23857,EAW76601,EAW76602,AAH02520,AAD03469,Q7L5N1,ABM82869,ABM85853 Hs.15591 CSN6|MOV34-34KD protein-coding 1320761 COPS7A COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis) 12732143,12628923,12477932,12220626,12020345,11337588,11285227,9707402,9535219,12615944,16169070,15502821,15489334,14702039,14647295 50813 AC125494,CH471116,AB014764,AB033603,AF193844,AF210052,NM_016319,AK001318,AK021721,AK022488,AK128792,AK292621,BC011789,BC093015,CR591390,CR592602,CR592980,CR594015,CR596731,CR599521,CR603520,CR603662,CR605258,CR605450,CR605577,CR613057,CR614333,CR619642,CR620180,CR620296,CR621364,CR622122,CR623628 EAW88745,EAW88746,EAW88747,EAW88748,EAW88749,BAB87805,BAA85390,AAF04307,NP_057403,AAF19205,BAA91620,BAB14052,BAF85310,AAH11789,AAH93015,Q567U8,Q9UBW8,ABM83820,ABM87140 Hs.530823 GDB:11505814 MGC110877 protein-coding 1315805 COPS7B COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) 1580863 14702039,12732143,12628923,12477932,12220626,12020345,11337588,11285227,9707402,9373149,8125298,16189514,15489334 64708 NM_022730,AC073476,CH471063,AK022674,AK024273,AK098334,AK124133,AK126326,AK222879,BC010739,BC091493,CR591213,CR599003,CR607579 Q53S22,Q5BJG3,Q6ZTQ7,Q9H9Q2,NP_073567,AAY24152,EAW70979,EAW70980,EAW70981,EAW70982,BAB14170,BAB14868,BAC86526,BAD96599,AAH10739,AAH91493,Q53GQ2 Hs.335061 GDB:11505816 FLJ12612|MGC111077 protein-coding 1322849 COPS8 COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 8689678,17318178,15489334,15304329,14647295,12732143,12628923,12615944,12477932,12324474,12220626,11567875,11337588,11285227,11032325,10991940,10585392,9707402,9535219,8889549,7634324 10920 NM_198189,NM_006710,AC105760,CH471063,AA004869,AI077560,AI690743,AK289891,AL038738,BC003090,BC036499,BC080617,BF979628,BG721393,BQ716842,CR456994,CR593384,CR593683,CR594862,CR595044,CR595867,CR601867,CR605123,CR607837,CR611203,CR612357,CR613293,CR619073,CR621907,CR624139,CR624288,CR625642,U51205 NP_937832,NP_006701,AAY14978,EAW71097,EAW71098,EAW71099,EAW71100,BAF82580,AAH03090,AAH36499,AAH80617,CAG33275,AAB38529,Q53QS9,Q99627 Hs.531713 COP9|CSN8|MGC1297|MGC43256|SGN8 protein-coding 1314607 COPZ1 coatomer protein complex, subunit zeta 1 16956762,11056392,11031247,11030615,8533093,8599108,15489334,12477932,11042152,10810093,9373149,8125298,9482852 22818 AC078778,CH471054,AB047848,AF086911,AF151878,AF161529,AK025956,AK026190,AK223188,BC002849,CR591000,CR599796,CR603014,CR605663,NM_016057,CR606668,CR608414,CR611806,CR611900,CR613095,CR613225,CR617085,CR617157,CR618156,CR619496,CR622541,CR623216,CR624831 NP_057141,EAW96774,EAW96775,BAB17659,AAP97141,AAD34115,AAF29144,BAD96908,AAH02849,P61923,Q53FU3 Hs.505652 CGI-120|COPZ|zeta1-COP protein-coding 1315851 COPZ2 coatomer protein complex, subunit zeta 2 This gene encodes a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. This gene is similar to a related family member, and the two encoded proteins form distinct isotypes of the coatomer protein complex. 1580863 11056392,15489334,14729954,12477932,10982407,8940050 51226 NM_016429,AC004477,CH471109,AB037938,AB047849,BC015924,BQ576336 NP_057513,EAW94769,BAA90670,BAB17660,AAH15924,Q9P299,ABM83979,ABM87300 Hs.408434 GDB:11510776 MGC23008 protein-coding 1602309 COQ10A coenzyme Q10 homolog A (S. cerevisiae) 16344560,15489334,14702039,12975309,12477932 93058 NM_144576,NM_001099337,AC073896,CH471054,CS300593,AK057003,AK057014,AY358861,BC002435,BC026922,BC047444,BC073923,CR591134,CR592454,CR594850,CR600865,CR626666,DB271789,CR618951,CR623374 NP_653177,NP_001092807,EAW96920,EAW96921,EAW96922,CAK32257,BAB71339,BAB71344,AAQ89220,AAH02435,AAH26922,AAH47444,AAH73923,Q8TAL2,Q96MF6 Hs.4096 FLJ32452 protein-coding 1604595 COQ10B coenzyme Q10 homolog B (S. cerevisiae) 15489334,14702039,12477932 80219 NM_025147,AC010746,CH471063,AK023510,BC022453 NP_079423,EAW70147,BAB14593,AAH22453,Q9H8M1 Hs.632547 FLJ13448 protein-coding 1603662 COQ2 coenzyme Q2 homolog, prenyltransferase (yeast) CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant. COQ2, or parahydroxybenzoate-polyprenyltransferase (EC 2.5.1.39), catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group (Forsgren et al., 2004 [PubMed 15153069]).[supplied by OMIM] 15153069,17855635,17376224,17374725,17332895,16873928,16643834,16400613,15905035,15489334,12477932,10737800 27235 NM_015697,AC114781,CH471057,AF091086,AJ621061,AK129583,BC008804,BC020728,BC116454,BG699931,BQ363759,CR456860,CR597797,CR598020,CR604430 NP_056512,EAX05927,EAX05928,EAX05929,EAX05930,AAC72955,CAF18241,AAH08804,AAH20728,AAI16455,CAG33141,Q96H96,ABM86854,ABW03831 Hs.144304 CL640|FLJ26072 protein-coding 732708 COQ3 coenzyme Q3 homolog, methyltransferase (S. cerevisiae) Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM] 1580863 10777520,15489334,14702039,12477932,11230166 51805 NM_017421,AL513550,CH471051,AF193016,AF351615,AK056955,AL136726,BC001534,BC015634,BC063463,CB128192,CR598978,CR607786 NP_059117,CAI17191,CAI17193,EAW48482,AAF66826,AAN76515,CAB66660,AAH15634,AAH63463,Q5T061,Q9NZJ6 Hs.709566 UG0215E05|bA9819.1 protein-coding 1312192 COQ4 coenzyme Q4 homolog (S. cerevisiae) 1580863 11256614,16381901,15489336,15489334,12477932,11469793,11076863,10810093 51117 NM_016035,AL359091,CH471090,AF151850,AK025376,AK126646,BC011895,BC036603,CR594347,CR601285,CR602433,CX787359,CR607746,EU216419,EU216420,EU216421,CR616941,EU216422,EU216423 NP_057119,CAI13486,CAI13487,EAW87774,EAW87775,EAW87776,EAW87777,EAW87778,AAD34087,BAC86627,AAH11895,ABW91141,ABW91142,ABW91143,ABW91144,ABW91145,Q0JVC5,Q5T4B8,Q6ZTG2,Q9Y3A0,CAL37535 Hs.98541 CGI-92 coenzyme q4 homolog (yeast) protein-coding 1604266 COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 15489334,15342556,14702039,12477932,9373149,8125298 84274 NM_032314,AC063943,CH471054,AK057777,AK222610,AK225242,BC004916,BC107874,BP307378,BX647562,CR591293,CR595710,CR596271,CR600322,CR601281,CR602489,CR607035,CR612918,CR619690,CR625099,CR608167 NP_115690,EAW98198,EAW98199,BAB71567,BAD96330,AAH04916,AAI07875,CAI46073,Q5HYK3 Hs.700658 MGC104303|MGC4767 protein-coding 1322454 COQ6 coenzyme Q6 homolog, monooxygenase (S. cerevisiae) 1580863 11256614,15489334,12477932,10810093,9373149,8125298 51004 NM_182480,NM_182476,AC005480,CH471061,AF132944,AK130167,AK222965,AL521052,AL557147,BC014181,BC014483,BX248000,BX648434,CR609198,CR610307,CR618016,CR622209,CR626826 NP_872286,NP_872282,EAW81146,EAW81147,EAW81148,AAD27719,BAD96685,AAH14181,AAH14483,CAD62332,Q53GG6,Q86U30,Q9Y2Z9,ABM83561,ABM86799 Hs.632335 CGI-10 coenzyme q6 homolog (yeast) protein-coding 737189 COQ7 coenzyme Q7 homolog, ubiquinone (yeast) The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Transcript variants have been described for this gene, but their full-length sequences have not been determined. 1580863 10501970,11256614,16381901,15489336,14702039,12477932,11749961,11511092,11435415,11230166,11076863,10373327,10373325,9452453,9373149,9020081,8125298 10229 NM_016138,AC099518,CH471186,AF032900,AF098948,AF374413,AI279093,AK024291,AK225115,AL136647,BC003185,BC043272,CR621671,U81276 NP_057222,EAW50268,EAW50269,EAW50270,EAW50271,AAC69451,AAD43648,AAM21346,BAB14876,CAB66582,AAH03185,AAH43272,AAC51120,Q49A71,Q8NI45,Q99807,Q9BTT7,Q9H0T5,CAL37929,CAL38398 Hs.157113 GDB:9864805 CAT5|CLK-1|CLK1 protein-coding 1603980 COQ9 coenzyme Q9 homolog (S. cerevisiae) 16303743,15489334,12477932,11230166,11042152,10493829 57017 AC004382,AC009052,CH471092,AF161444,AK075438,AK290627,AL136884,BC001478,BC029341,NM_020312,BC054340,BC064946,CR592593,CR593599,CR598682,CR604347,CR604814,CR605075,CR606389,CR612234,CR613497,CR621368,CR622199,CR623615,CR626697 NP_064708,AAC24313,EAW82928,EAW82931,AAF29004,BAC11621,BAF83316,CAB66818,AAH01478,AAH54340,AAH64946,O75208 Hs.513632 C16orf49|DKFZP434K046 protein-coding 1347529 CORD1 cone rod dystrophy 1 (autosomal dominant) 1867279 1319 GDB:118773 1342626 CORD4 cone rod dystrophy 4 8508343 1321 GDB:568477 1345844 CORD5 cone rod dystrophy 5 8586428 1322 GDB:568473 1352709 CORD7 cone rod dystrophy 7 9634506 1324 GDB:9834073 1347512 CORD8 cone rod dystrophy 8 54109 GDB:10796486 1350915 CORD9 cone rod dystrophy 9 60424 GDB:11505818 1343750 CORIN corin, serine peptidase This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. 1581217,1581218,1581219,1580863,1626338 10880574,10329693,17890485,17660514,17296875,16216958,15489334,15192093,14559895,12477932,12154094,11884416,11082206 1581217,1581218,1581219,1626338 10699 NM_006587,AC092597,AC104646,AC107068,AF521006,CH471069,AF113248,AF133845,AI872582,BC110451,BX648285 NP_006578,AAY40991,AAY40917,AAN40016,EAW93038,EAW93039,AAF21966,AAD31850,AAI10452,Q4W5E5,Q4W5G6,Q8IZR7,Q9Y5Q5 Hs.518618 ATC2|CRN|Lrp4|MGC119742|TMPRSS10 corin, serine protease protein-coding 732928 CORO1A coronin, actin binding protein, 1A 1580863 7758584,15601263,11094157,9365277,17442961,17341475,12132654,15800061,17353931,16467882,16040207,15489334,15203218,14702039,12673016,12477932,10749676,10338208,9778037,1286667 11151 NG_005305,AC012645,CH471238,AF495470,AK096332,AK097964,AK123401,BC110374,BC126385,BC126387,CD623635,CR590955,CR592353,CR592681,CR593420,CR593972,CR593974,CR594078,CR600248,CR601300,CR609078,CR611130,CR611796,CR614308,NM_007074,CR615461,CR617286,CR618041,CR618140,CR618690,CR618749,CR619593,CR620817,CR622218,CR626055,D44497,U34690,X89109,AB209221 NP_009005,EAW79906,EAW79907,EAW79908,EAW79909,EAW79910,AAM18516,BAC85606,AAI10375,AAI26386,AAI26388,BAA07940,AAA77058,CAA61482,P31146,Q59G88,Q6ZW98,BAD92458,ABZ92302 Hs.415067 GDB:9958729 CLABP|CLIPINA|FLJ41407|HCORO1|MGC117380|TACO|p57 coronin, actin binding protein 1a protein-coding 736068 CORO1B coronin, actin binding protein, 1B Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM] 1580863 17350576,16027158,15489334,12477932,9915840,9778037 57175 NM_020441,AP003419,CH471076,AK000860,AL162072,BC006449,BI767141,NM_001018070,CR589992,CR591748,CR592037,CR596082,CR598622,CR603235,CR604673,CR604867,CR604899,CR605530,CR610724,CR612430,CR613163,CR615750,CR615962,CR616449,CR621943,CR626258 NP_001018080,NP_065174,EAW74623,EAW74624,EAW74625,EAW74626,CAB82408,AAH06449,Q59F81,Q9BR76,Q9NSK3,ABM84323,ABM87717 Hs.6191 GDB:10795298 CORONIN-2|DKFZP762I166 protein-coding 1314425 CORO1C coronin, actin binding protein, 1C This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. 1580863 9778037,17274980,15489334,14702039,12477932,12377779,10828594,10461187,9373149,8175911,8125298,15592455 23603 AC007569,CH471054,AB030656,AB209909,AK023205,AK096363,AK223073,AL162070,AM849477,AM849478,BC002342,CR604990,CR614860,CR616176,CR625590,CR626655,Z24726,NM_014325 NP_055140,EAW97826,EAW97827,EAW97828,EAW97829,BAA83077,BAD93146,BAD96793,CAB82406,CAO94662,CAO94663,AAH02342,Q53G58,Q59EA2,Q9ULV4 Hs.701585 GDB:10795299 HCRNN4 protein-coding 1320210 CORO2A coronin, actin binding protein, 2A This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. 1580863 8985118,15489334,14527417,12628926,12477932,10231032 7464 NM_052820,NM_003389,AL137073,CH471105,U57057,U57058,AK292788,BC000010,BC011690 NP_438171,NP_003380,CAI13893,EAW58879,EAW58880,EAW58881,AAB47807,AAB47808,BAF85477,AAH00010,AAH11690,Q5TBR5,Q92828,ABM82671,ABW03440 Hs.113094 GDB:9835150 CLIPINB|IR10|WDR2 protein-coding 1352370 CORO2B coronin, actin binding protein, 2B 1580863 10224093,16344560,15489334,12477932,10231032,16189514 10391 NM_006091,AC090734,AC105014,CH471082,AB010098,AB023142,AI871484,AK124711,AK289678,BC026335,CR609225,DA182763 NP_006082,EAW77822,EAW77823,BAA36341,BAA76769,BAF82367,AAH26335,Q9UQ03,ABM83020,ABM83285,ABM86492 Hs.551213 GDB:9956501 CLIPINC|KIAA0925 protein-coding 1354094 CORO6 coronin 6 16625196,15498874,15489334,14702039,12665801,12477932,10737800 84940 NM_032854,AC104564,CH471159,AF193039,AF447884,AF447885,AI866586,AK027777,AK092430,AK094683,AK096431,AL833952,AY545070,BC028205,BC048209,BC064514,BF368858,CR619380 NP_116243,EAW51204,EAW51205,EAW51206,EAW51207,EAW51208,AAG22467,AAQ04659,AAQ04660,BAB55360,AAS48630,AAH64514,Q6QEF8 Hs.143046,Hs.662164 FLJ14871 protein-coding 1351326 CORO7 coronin 7 Coronins, such as CORO7, constitute an evolutionarily conserved family of WD-repeat actin-binding proteins. CORO7 plays a role in Golgi complex morphology and function (Rybakin et al., 2004, 2006 [PubMed 15327992] [PubMed 16905771]).[supplied by OMIM] 1580863 16905771,16344560,15327992,14702039,12477932,8889548 79585 NM_024535,AC012676,CH471112,AK025674,AK094596,AK097238,AK126176,AL833954,BC117289,BC117291,BM671637,DA094935 NP_078811,EAW85307,BAB15211,BAC86474,AAI17290,AAI17292,P57737,Q17RK4,Q6ZTV5 Hs.437957 0610011B16Rik|CRN7|FLJ22021|FLJ44188|POD1 protein-coding 1350081 CORS2 cerebello-oculo-renal syndrome 2 12917796,12908130 373067 736209 CORT cortistatin The product of this gene is a neuropeptide with strong structural similarity to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. 1580863 8889548,9205124,12915402,9125122,16043736,14669820,12975309,12684217,12519865,12477932,12161511,11329013,11227737,11011067,10894940,10461921 1325 NM_001302,AL354956,CH471130,AB000263,AF013252,AF086433,AV750349,AW205880,AY358561,BC040034,BC119724,BC119725 NP_001293,CAI19195,EAW71650,BAA19770,AAB66895,AAQ89950,AAH40034,AAI19725,AAI19726,O00230,Q5T6G0,Q8IUV6 Hs.412311 GDB:6108058 CST-14|CST-17|CST-29 protein-coding 1313560 COTL1 coactosin-like 1 (Dictyostelium) This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. 1580863 11583571,11297527,17070122,16924104,16097034,15583396,15489334,15459340,15333945,15213466,14702039,12665801,12477932,11870627,10051563,9326934,7690594 23406 NM_021149,CR605336,CR605405,CR607041,CR607170,CR607521,CR608974,CR609303,CR610464,CR613284,CR613492,CR615099,CR617231,CR617301,CR618340,CR618620,CR618782,CR619569,CR621975,CR623661,CR624944,CR625832,CR626063,CR626081,L08436,L54057,CR599718,AC022165,AC092145,CH471114,AK026033,AK093712,AK125645,AK127352,BC010039,BC010884,BC016702,BC020445,BC042970,BC053682,BT006968,CR593288,CR593806,CR594052,CR594358,CR597114,CR597761 AAA88022,Q14019,Q6ZSK8,NP_066972,EAW95475,EAW95476,EAW95477,BAC86232,BAC86940,AAH10039,AAH10884,AAH16702,AAH42970,AAH53682,AAP35614 Hs.289092 GDB:9958703 CLP|FLJ43657|MGC19733 protein-coding 1345793 COTL1P2 coactosin-like 1 (Dictyostelium) pseudogene 2 11997339 347720 NG_002773,AC015818 pseudo 1321106 COX10 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. 1580863 12928484,10767350,14607829,17192483,16344560,15489334,15455402,12477932,11959398,9787083,9403059,9285799,9177788,8889548,8078902 1352 NM_001303,AC005224,AC005389,CH471108,U82004,U82010,AK312718,BC000060,BC006394,BQ184586,BT006985,DA200545,U09466 NP_001294,EAW89956,EAW89957,AAC51330,BAG35592,AAH00060,AAH06394,AAP35631,AAA21148,Q12887,ABM84530,ABM85999 Hs.462278 GDB:386460 protein-coding 1320366 COX11 COX11 homolog, cytochrome c oxidase assembly protein (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. A related pseudogene has been found on chromosome 6. 1580863,1300048 9878253,15489334,12477932,10617659,9110174,8619474 1353 NM_004375,AC007485,AC090824,CH471109,AF044321,AK124809,BC005895,BI598312,CR541837,CR600874,CR617036,CR620872,CR625857,U79270 NP_004366,EAW94547,EAW94548,EAW94549,EAW94550,AAD08645,BAC85957,AAH05895,CAG46636,AAB50214,Q6FHB7,Q6ZVA5,Q9Y6N1,ABM84062,ABM87417 Hs.591171 GDB:9862900 COX11P protein-coding 1344168 COX11P COX11 homolog, cytochrome c oxidase assembly protein (yeast) pseudogene 9878253 140468 NR_000031,NG_007347,AF044322,Z98745 GDB:9862901 COX11 pseudo 1323821 COX15 COX15 homolog, cytochrome c oxidase assembly protein (yeast) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. 1598467,1598468,1300048 9878253,12474143,17945021,16344560,15489334,15235026,12477932,11248251,2175025 1598467,1598468 1355 NM_078470,NM_004376,AL133353,CH471066,AF026850,AF044323,AK291654,BC002382,BC013403,BC078161,BT007129,BX413913,BX537557,CR597483,CR605537,CR608747,DB094258 NP_510870,NP_004367,CAB88197,CAB88198,EAW49857,EAW49858,AAD08639,AAD08646,BAF84343,AAH02382,AAH13403,AAH78161,AAP35793,CAD97781,Q7KZN9,ABM81636,ABM84818 Hs.591916 GDB:9862902 protein-coding 733581 COX17 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. 1580863,1300048 9050918,17208454,16806233,16520371,16189514,16169070,15504366,15893662,15489334,14702039,14612491,12477932,11170391,11054125,11027508,10982038 10063 AC023494,AF269243,AF269244,AF269245,CH471052,AK054900,AK095366,BC010933,BC105280,BC108317,L77701,NM_005694 NP_005685,AAF82569,EAW79545,EAW79547,EAW79548,EAW79550,EAW79551,AAH10933,AAI05281,AAI08318,AAA98114,Q14061 Hs.534383 GDB:9954952 MGC104397|MGC117386 cytochrome c oxidase, subunit xvii assembly protein homolog (yeast) protein-coding 1626594 COX17P COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) pseudogene 17672825,10982038 81993 NG_001293,AF272832,AL138686 pseudo 1604709 COX18 COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) COX18 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox18 protein catalyzes the insertion of the Cox2 (MTCO2; MIM 516040) C-terminal tail into the mitochondrial inner membrane, an intermediate step in the assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM] 16911509,16212937,15489334,14702039,12477932 285521 NM_173827,AC095053,CH471057,AK092641,AK096310,AM055750,AM055751,AM055752,AY957564,AY957565,BC071812,BC101684 NP_776188,EAX05653,BAC03932,BAC04758,CAJ20055,CAJ20056,CAJ20057,AAY35060,AAY35061,AAH71812,AAI01685,Q8N8Q8,Q8NAI3 Hs.356697 COX18HS|FLJ38991|MGC126733 protein-coding 1604553 COX19 COX19 cytochrome c oxidase assembly homolog (S. cerevisiae) COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM] 16344560,16212937,15489334,14702039,12477932 90639 NM_001031617,AC073957,CH236965,CH471144,AA437231,AK023185,AY957566,BC042434,BC053372,BC058158,BC070383,BC103632,BC110420,DB077585 NP_001026788,EAW87185,AAY35062,AAH70383,AAI03633,AAI10421,Q49B96 Hs.121593,Hs.657538 MGC104475 protein-coding 68539 COX4I1 cytochrome c oxidase subunit IV isoform 1 Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. 1580863,1300048 2157630,17353931,17418790,15489334,14607829,12477932,11311561,10878243,10337626,9115172,8619474,8223633,2444497,2162812,1319058,1311608 1327 NM_001861,AC018695,AF005889,AF017115,AF042746,CH471114,BC008704,BC021236,BC039013,BC047869,BC062437,BT019825,CR590992,CR591678,CR592979,CR596828,M21575,M34600,U90915,X54802 NP_001852,AAB94819,AAC99578,AAB97750,EAW95436,EAW95437,EAW95438,AAH08704,AAH21236,AAH47869,AAH62437,AAV38628,AAA99312,AAA52059,AAB51058,CAA38573,P13073,Q6P666,Q86WV2,ABM84088,ABM87458 Hs.433419 GDB:119068 COX4|COXIV|MGC72016 cytochrome c oxidase, subunit 4a protein-coding 1344638 COX4I1P1 cytochrome c oxidase subunit IV isoform 1 pseudogene 1 1328 GDB:119067 735839 COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. 68709,1580863,1300048 11311561,11911854,17937768,17418790,15489334,12477932,11780052,11737208,10683230,8765469,6246917,6088481,2986725,2153405,1309738 68709 84701 NM_032609,AL117381,AY219183,CH471077,AF257180,BC057779,CR594972 NP_115998,CAI23028,EAW76431,AAK49333,AAH57779,Q96KJ9 Hs.277101 GDB:11505820 COX4|COX4-2|COX4B|COX4L2|COXIV-2|dJ857M17.2 protein-coding 1322563 COX4NB COX4 neighbor 1580863 10337626,16189514,15489334,12477932 10328 NM_006067,AC018695,AF005889,CH471114,AF005888,BC001472,BC005886,BC007445,BC020250,BT007132,CR600560 NP_006058,AAB94820,EAW95439,EAW95440,AAB94489,AAH01472,AAH05886,AAH07445,AAH20250,AAP35796,O43402,Q53Y03 Hs.173162 GDB:9956351 C16orf4|NOC4 protein-coding 732301 COX5A cytochrome c oxidase subunit Va Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. 1580863 2853101,14607829,12477932,10072584,8313870,7498159,17353931 9377 NM_004255,AC125435,AF067635,CH471136,AK026615,AK026623,BC024240,CR407649,M22760 NP_004246,AAC73060,EAW99287,EAW99288,AAH24240,CAG28577,AAA99220,P20674,Q71UP1,Q8TB65,ABM84510,ABM87831 Hs.401903 GDB:9956125 COX|COX-VA|VA cytochrome c oxidase, subunit va protein-coding 1353592 COX5AP1 cytochrome c oxidase subunit Va pseudogene 1 10072584 9385 NG_001220,AF042162,AL158801 GDB:9956154 pseudo 1350345 COX5AP2 cytochrome c oxidase subunit Va pseudogene 2 319087 NG_002477,AL118557 pseudo 734145 COX5B cytochrome c oxidase subunit Vb Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. 1580863,1300048 1646156,15489334,12477932,11719263,10915781,9030264,8806766,8313870,2840351,2162812,17353931 1329 AC017099,CH471127,M59250,U41284,BC006229,BT006742,CR541727,CR541753,M19961,NM_001862 Q6FHM4,ABM92189,ABW03281,NP_001853,AAY24279,EAX01930,AAA52060,AAB19185,AAH06229,AAP35388,CAG46528,CAG46553,AAA52061,P10606,Q53YB7,Q6FHJ9 Hs.1342 GDB:127530 COXVB protein-coding 1347957 COX5BL1 cytochrome c oxidase subunit Vb-like 1 9847074,1646156 1330 NG_003010,AC021863 GDB:127531 pseudo 1344627 COX5BL2 cytochrome c oxidase subunit Vb-like 2 1331 GDB:127532 1353209 COX5BL3 cytochrome c oxidase subunit Vb-like 3 1332 GDB:127533 1349774 COX5BL4 cytochrome c oxidase subunit Vb-like 4 1333 GDB:127534 1346297 COX5BL5 cytochrome c oxidase subunit Vb-like 5 1334 GDB:127535 1342750 COX5BL6 cytochrome c oxidase subunit Vb-like 6 1335 GDB:127536 1351554 COX5BL7 cytochrome c oxidase subunit Vb-like 7 1336 NG_002633,AL031846 GDB:127537 pseudo 735899 COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. 1580863 16541075,15489334,12477932,10773445,9284905,9202413,9190060,2549515,1327966,1286669 1337 NM_004373,AL021546,CH471054,U83702,AF020589,BC007723,BC070186,BC107861,X15341 ABM84025,ABM87370,NP_004364,CAA16494,EAW98190,EAW98191,AAD00554,AAC98895,AAH07723,AAH70186,AAI07862,CAA33392,O95101,P12074,Q9UEG9 Hs.497118 GDB:118774 COX6A|COX6AL|MGC104500 cytochrome c oxidase, subunit via, polypeptide 1 protein-coding 1346319 COX6A1P cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 10773445,9284905,9177785 1338 NG_001105,AL596276,U82486 GDB:5302685 pseudo 736247 COX6A2 cytochrome c oxidase subunit VIa polypeptide 2 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. 1580863,1300048 15489334,12477932,9284905,9177785,8681137,1327966 1339 NM_005205,AC026471,CH471192,U66875,BC029818,F27891,M83308 NP_005196,EAW52137,EAW52138,AAC51328,AAH29818,AAA52062,Q02221,ABM92178,ABM84649 Hs.250760 GDB:136189 COX6AH|COXVIAH protein-coding 1343660 COX6B1 cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. 1580863 2172092,17516841,15489334,15057824,12477932,11943455,7821789,2537962,1651883,1650756,1647217,17353931 1340 NM_001863,AC002115,X58139,BC001015,BC002478,BT006945,CR456789,CR542137,CR600969,D28426,X13923,X54473 NP_001854,AAB57628,CAA41147,AAH01015,AAH02478,AAP35591,CAG33070,CAG46934,BAA05792,CAA32114,CAA38352,P14854,ABM84535,ABM86004 Hs.431668 COX6B|COXG protein-coding 1349779 COX6B2 cytochrome c oxidase subunit VIb polypeptide 2 (testis) 737633 12874793,15489334,14702039,12477932,2172092 737633 125965 NM_144613,AC020922,CH471135,AK057427,AY152398,BC026123,BC064548,BC100899,BC100900,BC100901,BC100902,BG717038 NP_653214,EAW72367,EAW72368,BAB71481,AAN46751,AAH26123,AAH64548,AAI00900,AAI00901,AAI00902,AAI00903,Q6YFQ2 Hs.550544 COXVIB2|MGC119094 protein-coding 1351404 COX6BP1 cytochrome c oxidase subunit VIb pseudogene 1 (HCOX52) 1651884,1651883 140603 NR_002210,NG_007348,AC093743,M38259 GDB:128831 COX6BP-1 pseudo 1352312 COX6BP2 cytochrome c oxidase subunit VIb pseudogene 2 1651884,1651883 1342 NG_005205,AC091179,M38260 GDB:128832 COX6BP-2 pseudo 1344500 COX6BP3 cytochrome c oxidase subunit VIb pseudogene 3 1651884 1343 NG_005206,AL031594,M38261 Q5TH50 GDB:129084 COX6BP-3 pseudo 1346692 COX6BP4 cytochrome c oxidase subunit VIb pseudogene 4 1651883,1651884 1344 GDB:129083 736850 COX6C cytochrome c oxidase subunit VIc Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse COX subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene COX6CP1 has been found on chromosomes 16p12. 1580863,1300048 17516841,15489334,12477932,10072584,9930743,9752724,8705997,2849755,17353931 1345 NM_004374,NG_007098,AC105328,AF067636,AF067637,CH471060,BC000187,BT007007,S82616,X13238 NP_004365,AAC73061,EAW91791,EAW91792,EAW91793,AAH00187,AAP35653,CAA31624,P09669,ABM92159,ABM87796 Hs.351875 GDB:118775 protein-coding 1343648 COX6CP1 cytochrome c oxidase subunit VIc pseudogene 1 10072584 9384 NG_001219,AC007216,AF042163 GDB:9956148 pseudo 1352296 COX6CP2 cytochrome c oxidase subunit VIc pseudogene 2 170504 NG_001033,AL034429 GDB:11505822 dJ894K16.1 pseudo 1348243 COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. 1580863 1327965,9344674,18488190,15489334,15057824,12477932,11997101,10335655,9752724,2550906,1309697 1346 NM_001864,AC002984,AD001527,AF037372,AF127789,U81524,BC002757,BT006924,CR542120,M83186 NP_001855,AAB81547,AAB51184,AAB92616,AAF72747,AAB82735,AAH02757,AAP35570,CAG46917,AAA52166,P24310,Q6FGI7,ABM92252,ABM84472,ABM84736,ABW03614,ABW03615,ABW03616 Hs.421621 GDB:118776 COX7A|COX7AH|COX7AM protein-coding 1342607 COX7A2 cytochrome c oxidase subunit VIIa polypeptide 2 (liver) Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa and the polypeptide 2 is present in both muscle and nonmuscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, present in all tissues. This gene may have several pseudogenes. 1580863 9202413,9202412,8241294,2550906,1327965,1309697,15489334,14574404,12477932,11004498,9752724 1347 NM_001865,AF134406,AL080250,CH471051,BC100852,BC100853,BC100854,BC101826,BC101828,BC133654,CR407646,CR542125,CR610116,X15822 NP_001856,AAF61396,CAI19899,EAW48746,EAW48747,AAI00853,AAI00854,AAI00855,AAI01827,AAI01829,AAI33655,CAG28574,CAG46922,CAA33820,P14406,Q496I0 Hs.70312 GDB:135979 COX7AL|COX7AL1|COXVIIa-L|MGC118950|MGC118951|MGC118952|MGC126875|MGC126877 protein-coding 1314534 COX7A2L cytochrome c oxidase subunit VIIa polypeptide 2 like Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. 1580863,1300048 9418891,16189514,15489334,14702039,14562965,12477932,11156535,10335655,8647836 9167 NM_004718,AB007620,AC006038,AY007643,CH471053,AB007618,AF127788,AK092911,AK130281,BC005251,BC007095,BT007371,CR542208,CR594885,CR602398,CR606573,CR611087,CR621729 NP_004709,AAY15087,AAG32129,EAX00320,EAX00321,EAX00322,EAX00323,BAA22571,AAF72746,AAH05251,AAH07095,AAP36035,CAG47004,O14548,Q6FGA0,ABM92183,ABM84655 Hs.339639 GDB:9955153 COX7AR|COX7RP|EB1|SIG81 protein-coding 1352739 COX7AP1 cytochrome c oxidase subunit VIIa pseudogene 1 9202412,1327965 319098 NG_002479,AL049779 COX7A3P pseudo 1347060 COX7AP2 cytochrome c oxidase subunit VIIa pseudogene 2 15815621,1327965 1348 NG_004712,AC004544 AAC12952,O60397 COX7A3|COX7AL|COX7AL2 pseudo 1344241 COX7B cytochrome c oxidase subunit VIIb Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22, respectively. 1580863 8382530,15772651,15489334,12477932,9752724,9660196,8781533,3007143,1309697 1349 NM_001866,AL356235,CH471104,BC018386,BT009767,CR450332,CR542124,Z14244 NP_001857,CAH70525,EAW98607,AAH18386,AAP88769,CAG29328,CAG46921,CAA78613,P24311,ABM92161,ABW03273 Hs.522699 GDB:138315 protein-coding 1353874 COX7B2 cytochrome c oxidase subunit VIIb2 1580863 15623157,15489334,12477932 170712 NM_130902,AC107383,AC108931,CH471069,AF125109,BC035923,BC107855,DB447854 NP_570972,EAW93028,AAL75946,AAH35923,AAI07856,Q8TF08 Hs.479656 MGC102754 protein-coding 1343507 COX7BP1 cytochrome c oxidase subunit VIIb pseudogene 1 114657 NG_001300,AF042164 GDB:11505824 bK714B7.1 pseudo 1344114 COX7BP2 cytochrome c oxidase subunit VIIb pseudogene 2 140692 NG_005370,AL078461 GDB:11505826 dJ901O8.2 pseudo 1353652 COX7C cytochrome c oxidase subunit VIIc Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. 1580863 17516841,15489334,12477932,10072584,9752724,7926688,2155413,1309697 1350 NM_001867,AC108110,AF067638,AF067639,CH471084,AK026505,BC001005,BC007498,BT007098,X16560 NP_001858,AAC73062,EAW95922,EAW95923,EAW95924,AAH01005,AAH07498,AAP35762,CAA34559,P15954,ABM82281,ABM85462 Hs.430075 GDB:128569 protein-coding 1351845 COX7CP1 cytochrome c oxidase subunit VIIc pseudogene 1 10072584 9386 NG_001221,AF042165,AL137000 GDB:9956160 pseudo 1348555 COX8A cytochrome c oxidase subunit 8A (ubiquitous) The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. 1580863 2543673,15489334,12909344,12477932,10637443,2847943 1351 NM_004074,AP000721,CH471076,J04823,BC000501,BC063025,BT009803,CR407687,CR609784 NP_004065,EAW74186,AAA99313,AAH63025,AAP88805,CAG28615,P10176,Q53XN1 Hs.433901 COX|COX8|COX8-2|COX8L|VIII|VIII-L protein-coding 1354273 COX8B cytochrome c oxidase, subunit 8B pseudogene 724423 12909344,12716970 724423 404544 NG_003253,AC136475 COX8-1|COX8BP|COX8H pseudo 1344927 COX8C cytochrome c oxidase subunit 8C 724423,1580863 12909344,12477932,12762575,15489334 724423 341947 NM_182971,AL122023,CH471061,AY161004,BC101125,BC101126 NP_892016,EAW81530,AAO26193,AAI01126,AAI01127,Q7Z4L0 Hs.666459 COX8-3|MGC119774|MGC119775 protein-coding 736782 CP ceruloplasmin (ferroxidase) This gene encodes a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin. The deficiency of this metalloprotein, termed aceruloplasminemia, leads to iron accumulation and tissue damage, and is associated with diabetes and neurologic diseases. 1599626,1599198,1599627,1358523,1580863 7708681,9445478,14718574,18187043,17991445,17965133,17688883,17661447,17637479,17597152,17404760,17032174,17013908,16831606,16775387,16756764,16373913,16335952,16150804,15752613,15741220,15668644,15648851,15557511,15111541,15103512,15084671,146197,15479637,12952974,12724641,12708132,12575997,12477932,12351628,12177070,12175089,12132593,12107410,12055353,12029093,11908641,11783942,11689010,11681312,11095930,11040994,10666301,10660599,10490627,9788274,9727700,9500710,9360306,9097926,14760718,14702039,8968753,8789443,8679709,7702601,6987230,6987229,6940148,6582496,6571985,6479854,6337857,3755405,3486416,3474786,2873574,2355023,2332446,2105310,1463466,463490 1599626,1599198,1599627,1358523 1356 CH471052,D45045,DQ314867,AK095290,AK291219,BC039239,BC061702,BC070304,BC094709,BC142714,BC146663,BC146801,BX647327,CA391602,D00025,M13536,M13699,X04135,X04136,X04137,X04138,X69706,AC093001,NM_000096,AC131209,AF132978 AAF02483,EAW78882,EAW78883,EAW78884,BAA08084,BAA08085,ABC40726,BAF83908,AAH70304,AAI42715,AAI46664,BAA00019,AAA51975,AAA51976,CAA27752,CAA27753,CAA27754,CAA27755,P00450,Q1L857,Q6NSB2,NP_000087 Hs.558314 GDB:119069 CP-2 ceruloplasmin protein-coding 1605415 CP110 CP110 protein 17719545,16275750,17765674,16964243,16760425,15489334,14654843,12477932,12361598,10493829,9455477 9738 NM_014711,AC003108,AC012621,CH471186,AB007879,BC030223,BC034140,BC036654,CR749255 NP_055526,AAC05804,EAW50287,EAW50288,BAA24849,AAH36654,CAH18111,O43303,ABM82192,ABM85380 Hs.279912 GDB:9958187 DKFZp781G1416|KIAA0419 protein-coding 733563 CPA1 carboxypeptidase A1 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. The A1 and A2 forms are monomeric proteins with different biochemical properties. Carboxypeptidase A1 is a monomeric pancreatic exopeptidase. It is involved in zymogen inhibition. 1580863 2920728,15489334,12690205,12477932,11920156,8806703,7570003,3455919,2307232,1969228,1417781 1357 NM_001868,AC007938,CH236950,CH471070,AK124421,AK131054,AK291493,BC005279,BT007313,CR621452,CR626683,X67318 NP_001859,EAL24089,EAW83762,EAW83763,BAC85850,BAF84182,AAH05279,AAP35977,CAA47732,P15085,Q53XU0,Q6ZVL1,ABM92182,ABM84654 Hs.2879 GDB:120597 CPA carboxypeptidase a1 protein-coding 1313664 CPA2 carboxypeptidase A2 (pancreatic) Three different forms of human pancreatic procarboxypeptidase A have been isolated. The A1 and A2 forms are monomeric proteins with different biochemical properties. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues 1580863 2920728,17196978,15489334,12948494,12538893,12477932,11743734,10860668,10742178,9450539,9384570,8806703,7896805 1358 NM_001869,AC024085,CH236950,CH471070,BC007009,BC014571,BC015140,BT007403,U19977 NP_001860,EAL24092,EAW83751,AAH07009,AAH14571,AAH15140,AAP36067,AAA74425,P48052,Q9UCF1,ABM84737 Hs.490038 GDB:125230 protein-coding 733833 CPA3 carboxypeptidase A3 (mast cell) Three different forms of human pancreatic procarboxypeptidase A have been isolated. The A3 form, is obtained as a binary complex of a procarboxypeptidase A with a proproteinase E. Mast cell carboxypeptidase A is a secretory granule metalloexopeptidase that has a pH optimum in the neutral to basic range. It resembles pancreatic carboxypeptidase A in cleaving COOH-terminal aromatic and aliphatic amino acid residues. 734812,1580863 2594780,1629626,2708524,15489334,14760754,12477932,10383164,7929294,2920728,2443571,1729276 734812 1359 NM_001870,AC092979,CH471052,M73720,BC012613,M27717,S40234 NP_001861,EAW78902,AAA59568,AAH12613,AAA35652,AAB22578,P15088,ABM83731,ABM87051 Hs.646 GDB:125231 carboxypeptidase a3 protein-coding 1345742 CPA4 carboxypeptidase A4 This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. 1580863 10383164,16091843,15489334,12975309,12690205,12676894,12552318,12477932,10860668 51200 NM_016352,AC024085,CH236950,CH471070,AF095719,AK290993,AY358699,BC052289,BI335735 NP_057436,EAL24091,EAW83752,EAW83753,AAF23230,BAF83682,AAQ89062,AAH52289,Q9UI42 Hs.93764 GDB:11508352 CPA3 protein-coding 1345322 CPA5 carboxypeptidase A5 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM] 1580863 16344560,15489334,14702039,12853948,12676894,12477932,11920156,11836249,9546821 93979 NM_080385,NM_001127441,NM_001127442,AC007938,CH236950,CH471070,AF384667,AK093288,AK131191,AY155228,AY155229,AY155230,BC039362,BC042996,BC053681,BK000187,DB059130 NP_525124,NP_001120913,NP_001120914,EAL24090,EAW83754,EAW83755,EAW83756,EAW83757,EAW83758,EAW83759,EAW83760,AAL37611,BAC04122,BAD18389,AAO17155,AAO17156,AAH39362,AAH42996,DAA00035,Q6ZNI6,Q8WXQ8 Hs.567642 GDB:11505828 FLJ35969 protein-coding 1323390 CPA6 carboxypeptidase A6 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA6, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM] 1580863 12477932,12454025,11836249,18178555,15489334 57094 NM_020361,NM_001127445,AC011037,AC022861,AC022874,AC027006,AF466284,CH471068,AF221594,AY044833,BC033684,BI756197,BK000188,BP421438 NP_065094,NP_001120917,AAM19307,EAW86937,EAW86938,EAW86939,AAF91231,AAK84941,AAH33684,DAA00037,Q8N4T0,ABM82969,ABM86163 Hs.658850 GDB:11505830 CPAH protein-coding 1347044 CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 CPAMD8 belongs to the complement component-3 (C3; MIM 120700)/alpha-2-macroglobulin (A2M; MIM 103950) family of proteins, which are involved in innate immunity and damage control. Complement components recognize and eliminate pathogens by direct binding or by mediating opsonization/phagocytosis and intracellular killing, and A2M is a broad-spectrum protease inhibitor (Li et al., 2004 [PubMed 15177561]).[supplied by OMIM] 1580863 15342556,15177561,14702039,12477932,11696365,10574462,1335692 27151 NM_015692,AC008737,AC020908,CH471106,AB033109,AI670110,AK075099,AK092632,AK124052,AY101765,BC067854,BF726092,BP302427,CA421477 NP_056507,EAW84567,EAW84568,EAW84569,BAA86597,BAC11400,AAM50084,AAH67854,Q6NVW5,Q8IZJ3 Hs.631644 FLJ42058|FLJ90618|K-CAP|KIAA1283|VIP protein-coding 1354386 CPAT1 cerebral palsy, ataxic 1 10854109 60502 737246 CPB1 carboxypeptidase B1 (tissue) Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. 1580863 1370825,17673703,15489334,12477932,12162965,9524066,8322019,7505580,3222247,2920728,2307232,17398 1360 NM_001871,AC024897,AC092979,CH471052,AJ224866,BC015338,BI770145,BT009910,CR623808,CR749369,M81057 NP_001862,EAW78903,EAW78904,CAA12163,AAH15338,AAP88912,CAH18222,AAA66973,P15086,Q53XJ0,Q68DJ8,ABM92164,ABM84632 Hs.477891 GDB:132160 DKFZp779K1333|PASP|PCPB carboxypeptidase b1 protein-coding 731734 CPB2 carboxypeptidase B2 (plasma) Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Available sequence data analyses indicate splice variants that encode different isoforms. 1598473,1598476,1598478,1598479,1598474 1939207,10651877,18341631,18252711,18075282,18063813,15692247,15668188,15550029,15543330,15521922,15497025,15489334,15333035,15224354,15128744,15057823,15025077,15004439,14739223,14717966,14715654,14525995,14517491,12958613,12941043,12876631,12871455,12830006,12799375,12645517,12643276,12624641,12595308,12574207,12477932,12368162,12362237,12165290,12087030,12006404,11903334,11786552,11776333,11686324,11686322,18021301,17855631,17723126,17690487,17673703,17666015,17644733,17636471,17473579,17388801,17327284,17272741,17264944,17138567,17107352,16894472,16540154,16504676,16445295,16441664,16335952,16244771,16123492,15978108,15719893,18048863,11686321,11410415,10777524,10350473,9869166,8975730,8663147,8662763,2920728,1427879,17398 1598473,1598476,1598478,1598479,1598474 1361 NM_016413,NM_001872,AF080222,AF080223,AL137141,AL157758,AY714780,CH471075,AA700377,AB011969,AK290829,AV719308,BC007057,BT006936,CR626525,M75106 NP_057497,NP_001863,CAI10904,CAI10905,AAT97987,EAX08754,EAX08755,BAA90475,BAF83518,AAH07057,AAP35582,AAA60042,Q96IY4,ABM92184,ABW03279 Hs.512937 GDB:129546 CPU|PCPB|TAFI protein-coding 731463 CPD carboxypeptidase D The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. 1580863 9064476,17641957,15918796,15489334,12754519,12643288,12477932,12417617,11306718,9815277,9714835,9628828,9490632,9355738,8619474 1362 NM_001304,AC006050,AC090685,CH471159,AL049339,BC020457,BC045549,BC045624,BC051702,BC054116,CR593812,D85390,U65090,U90914 NP_001295,EAW51227,EAW51228,AAH45549,AAH45624,AAH51702,BAA33370,AAC51775,O75976 Hs.446079 GDB:9835933 protein-coding 732381 CPE carboxypeptidase E This gene encodes a carboxypeptidase that cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. It is a peripheral membrane protein. The protein specifically binds regulated secretory pathway proteins, including prohormones, but not constitutively secreted proteins. Mutations in this gene are implicated in type II diabetes. 728242,704405,1580863,1626182,1357926,1626183,1626184,1626181 9019408,7663508,2334405,18080843,17957445,16169070,15664176,15492986,15489334,14702039,14690244,12530526,12479974,12477932,12417617,12270926,11462236,11375130,11373325,10966857,9815277,9662053,9369230,9275097,9197538,8864828,8770919,8674818,8449522,7790890,7477119,6808517,16189514 728242,1626182,1357926,1626183,1626184,1626181 1363 NM_001873,AB006898,AC012504,CH471056,AI340177,AK090962,AK127165,AK290996,BC033866,BC053612,BM271829,CR594085,X51405 NP_001864,BAA86053,EAX04817,EAX04818,EAX04819,BAF83685,AAH33866,AAH53612,CAA35767,P16870,ABM84248,ABM87636 Hs.707992 GDB:127894 1643249,2289317,2289563 BW135_H,BW379_H,BW441_H protein-coding 1321314 CPEB1 cytoplasmic polyadenylation element binding protein 1 This gene encodes a member of the cytoplasmic polyadenylation element (CPE) binding protein family. This highly conserved protein binds to a specific RNA sequence called the CPE found in the 3' UTR of some mRNAs. Similar proteins in Xenopus and mouse function to induce cytoplasmic polyadenylation of dormant mRNAs with short polyA tails, resulting in their translation. Members of this protein family regulate translation of cyclin B1 during embryonic cell divisions. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 16344560,15966895,15731006,15489334,14702039,12477932,11433366,11223249,9847074,12629046 64506 AF329402,AF329403,AK023265,AL832156,BC035348,BC050629,BX649159,CR591339,DA340952,DA705313,NM_030594,NM_001079535,NM_001079533,NM_001079534,AC010724,AC105339,AC110291,CH471188 EAW62451,AAK01239,AAK01240,BAB14496,AAH35348,AAH50629,Q9BZB8,EAW62452,NP_085097,NP_001073003,NP_001073001,NP_001073002,EAW62448,EAW62449,EAW62450 Hs.547988 CEBP|CPE-BP1|CPEB|FLJ13203|MGC34136|MGC60106 protein-coding 1316707 CPEB2 cytoplasmic polyadenylation element binding protein 2 The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. 15489334,14702039,12672660,12477932 132864 BC103940,BC103941,BC103942,BC105925,BI857384,BU854092,BX640753,NM_182485,NM_182646,AC098829,AC105289,AC114749,CH471069,AK094566,AY247744,AY255519,BC103939 AAI03941,AAI03942,AAI03943,AAI05926,CAE45860,Q6N013,Q7Z5Q1,NP_872291,NP_872587,EAW92727,EAW92728,EAW92729,EAW92730,AAP37585,AAP41553,AAI03940 Hs.656937 MGC119575|MGC119576|MGC119577 protein-coding 1348549 CPEB3 cytoplasmic polyadenylation element binding protein 3 16990549,15489334,15164054,12672660,12477932,10231032 22849 NM_014912,AL158040,AL365398,CH471066,AB023157,AK127060,BC036444 NP_055727,CAI13636,CAI13637,EAW50097,EAW50098,BAA76784,AAH36444,Q5T390,Q8NE35,ABM87628,ABW03915 Hs.131683 protein-coding 1323642 CPEB4 cytoplasmic polyadenylation element binding protein 4 1580863 15489334,12672660,12477932,11214970 80315 NM_030627,AC093275,CH471062,AB051460,BC036899,BC117150,BX538213,CR598263 NP_085130,EAW61389,EAW61390,EAW61391,EAW61392,EAW61393,BAB21764,AAH36899,AAI17151,CAD98072,Q17RY0 Hs.127126 KIAA1673 protein-coding 1347113 CPHL1 ceruloplasmin and hephaestin-like 1 493827 1344427 CPL1 ceruloplasmin-like 1 3436225 1367 GDB:119797 735999 CPLX1 complexin 1 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. 70701,1580863 7553862,16794037,16442780,15526345,15489334,12477932,12082566,12058476,11832227,11483314,10051208,9853440,7654227,16189514 70701 10815 NM_006651,AC139887,CH471131,AF022383,AK126578,BC002471,BT007029,CR603035 NP_006642,EAW82647,EAW82648,EAW82649,AAB72108,AAH02471,AAP35676,O14810 Hs.478930 GDB:9958369 CPX-I|CPX1 protein-coding 732283 CPLX2 complexin 2 Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. 70701,734813 7553862,16442780,16162394,16131404,15906159,15653259,15489334,14702039,12807877,12477932,12200427,12082566,12058476,11751907,11576753,11483314,10777504,10430466,10051208,9853440,8824312,605033 70701,734813 10814 NM_006650,NM_001008220,AC010241,AC018760,AC138965,CH471062,AK055043,AK094266,AK124837,AK126590,AL512758,AL707430,AY576870,BC039560,BC052974,BC065485,BC093706,BC112287,BI197868,BN000499,BN000500,U35100,Y15167 NP_006641,NP_001008221,EAW61366,EAW61367,BAB70843,BAC04320,AAS93622,AAH93706,AAI12288,CAG26663,CAG26664,AAC50229,Q6PUV4,Q8N9L3,Q96NN7 Hs.193235 GDB:9958368 921-L|CPX-2|CPX2|Hfb1|MGC138492 protein-coding 1604870 CPLX3 complexin 3 15911881,14702039,12934113,12477932 594855 NM_001030005,AC091230,CH471136,AB072900,AK024055,AU253913,AY286501,BC018026,CR601117 NP_001025176,EAW99306,EAW99307,BAE45711,BAB14805,AAP41127,AAH18026,Q8WVH0 Hs.187694 CPX-III|CPXIII|FLJ13993|Nbla11589 protein-coding 1316951 CPLX4 complexin 4 1580863 15911881,15489334,14702039,12477932 339302 BC106888,BX640655,BX648518,NM_181654,AC067859,CH471096,AK123184,AY286502,BC065562,BC106886,BC106887 AAI06889,CAE45797,Q7Z7G2,AAI06888,NP_857637,EAW63094,EAW63095,BAC85549,AAP41128 Hs.449884 CPX-IV|CPXIV|DKFZp686A0185|DKFZp686O0683|FLJ41190|MGC125769|MGC125783|MGC125784 protein-coding 1321490 CPM carboxypeptidase M The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. 1580863 7797563,18187413,16602701,15489334,15066430,14517339,12477932,12457462,11934264,11891060,11444929,11375929,11147789,10849748,10426564,10222261,9701794,8889548,8796265,8635221,8586455,8338689,7620164,7615511,2914904,2753907,1431901 1368 BQ773666,BQ706414,CB241489,CB959900,CB989009,CB993834,CD109360,CR593316,J04970,NM_198320,NM_001005502,AC025423,AC133749,AF262947,AF368463,AI524542,AK127859,AK130146,AU106031,BC016943,BC022276,BG677445,BM049082,BQ181238,BQ431065,NM_001874 AAA35651,P14384,ABM84045,ABM87391,NP_001865,NP_938079,NP_001005502,AAG47641,AAK69717,AAH22276 Hs.654387 GDB:636180 protein-coding 734334 CPN1 carboxypeptidase N, polypeptide 1 Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. 1580863 2912725,18039526,15718415,15489334,14687935,12725295,12560874,12477932,11939578,10878383,9628828,8267877,3408501,2610070,16189514 1369 NM_001308,AL441886,CH471066,AW950687,BC027897,CR597710,CR603435,CR608830,X14329 NP_001299,EAW49848,AAH27897,CAA32507,P15169,Q5T287,Q5T288,ABM82977,ABM86170,ABM86171 Hs.2246 GDB:9835931 CPN|FLJ40792|SCPN carboxypeptidase n, polypeptide 1, 50kd protein-coding 1346122 CPN2 carboxypeptidase N, polypeptide 2 1580863 2378615,16335952,15489334,14760718,12477932,9628828,3408501 1370 NM_001080513,AC125362,CS300516,BC031569,BC042334,BC137398,BC137403,J05158 NP_001073982,CAK32180,AAH31569,AAH42334,AAI37399,AAI37404,AAA51921,P22792 Hs.528368 GDB:127893 ACBP carboxypeptidase n, polypeptide 2, 83kd protein-coding 1322452 CPNE1 copine I Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Sequence analysis identified multiple alternatively spliced variants in the 5' UTR. All variants encode the same protein. 1580863 9430674,16806233,15489334,14674885,12949241,12522145,12477932,11780052,10534407,16189514 8904 NM_152927,NM_152930,NM_152928,NM_152931,NM_152926,NM_152929,NM_003915,AL109827,NM_152925,CH471077,AB209827,AF314092,AW964878,BC001142,BC021010,BI825962,BI917584,CR456790,CR593699,CR596654,CR604886,CR606579,CR618133,CR624410,CR626381,U83246 NP_690902,NP_690904,NP_690907,NP_690905,NP_690908,NP_690903,NP_690906,NP_003906,CAB87610,CAI20120,CAI20122,CAI20123,CAI20124,CAI20125,CAI20126,CAI20127,CAI20128,CAI20129,CAI20130,CAI20131,CAI20132,CAI20133,CAO72111,CAQ10457,EAW76173,EAW76174,EAW76175,EAW76176,EAW76177,EAW76178,EAW76179,EAW76183,EAW76185,EAW76186,EAW76187,EAW76189,EAW76190,BAD93064,AAG49297,AAH01142,CAG33071,AAC15920,Q59EI4,Q5JX44,Q5JX45,Q5JX46,Q5JX52,Q5JX53,Q5JX54,Q5JX55,Q5JX56,Q5JX57,Q5JX58,Q5JX59,Q5JX60,Q5JX61,Q99829 Hs.246413 GDB:9959055 COPN1|CPN1|MGC1142 protein-coding 1319355 CPNE2 copine II Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. 15489334,14702039,12949241,12522145,12477932,9430674 221184 NM_152727,AC009090,CH471092,AF492484,AK094867,AK126138,BC053658,BG831872,CR604141,CR749617 NP_689940,EAW82903,AAO85483,BAC86460,AAH53658,CAH18411,Q6ZTW9,Q719H8,Q96FN4 Hs.339809 GDB:9958954 COPN2|CPN2|DKFZp686E06199|MGC16924 protein-coding 1320926 CPNE3 copine III Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. Copine III contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. 1580863 11041869,9734811,9430674,12949241,18264096,15489334,14702039,12477932 8895 NM_003909,AC013751,AC103817,CH471060,AB014536,AF077226,AF116654,AI031907,AK025275,AK124311,AK292912,BC007017,BC008385,BC015734,BC036242,BC066597,BM014699,BX647342,CR599032 NP_003900,EAW91641,EAW91642,EAW91643,BAA31611,AAD46074,AAF71074,BAF85601,AAH07017,AAH15734,AAH36242,AAH66597,O75131,Q05DL8,Q96BC7,Q9P1I0 Hs.191219 GDB:9957565 CPN3|KIAA0636|PRO1071 protein-coding 1318850 CPNE4 copine IV Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. 12670487,12522145,12477932,9430674,16189514,15489334,14702039 131034 NM_130808,AC021659,AC055754,AC076961,AC107027,AC135002,AC136276,CH471052,AF465770,AF465771,AK056175,AK128117,BC014396,BC028613,BC075046,CR593567,CR617237 NP_570720,EAW79206,EAW79207,AAL74190,AAL74191,BAB71111,AAH14396,AAH28613,AAH75046,Q4G168,Q96A23,ABM84415,ABM87414 Hs.199877 GDB:9957841 COPN4|CPN4|MGC15604 protein-coding 1317548 CPNE5 copine V Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. 14574404,12477932,10997877,9647638,9430674 57699 NM_020939,CH471081,Z85996,AB046819,AL833002,BC012765,BC036840,BC053872 NP_065990,EAX03911,EAX03912,EAX03913,EAX03914,EAX03915,CAD92810,BAB13425,CAH56298,AAH53872,Q658T3,Q7Z6C8,Q9HCH3 Hs.657869 GDB:9957837 COPN5|CPN5|DKFZp666C234|KIAA1599 protein-coding 1313396 CPNE6 copine VI (neuronal) This gene encodes a brain-specific member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains, and one von Willebrand factor A domain. It may have a role in synaptic plasticity. 1580863 9645480,15489334,14702039,12477932,11041869,10403379,9886090,9373149,8125298 9362 NM_006032,AL136295,CH471078,AB009288,AK125195,AK222675,AL050397,AL137688,AW157471,BC018046,CR598214 NP_006023,EAW66117,EAW66118,EAW66119,EAW66120,BAA75899,BAD96395,AAH18046,O95741,ABM84568,ABM86508 Hs.6132 GDB:9956071 N-COPINE protein-coding 1316677 CPNE7 copine VII This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. Sequence analysis identified two alternatively spliced transcript variants that encode different isoforms. 1580863 10534407,16189514,15489334,12477932 27132 NM_014427,NM_153636,AC010538,AC092123,AJ133799,CH471184,AJ133798,BC035334,BC064577 NP_055242,NP_705900,CAB61446,EAW66721,EAW66722,CAB61431,AAH35334,AAH64577,Q9UBL6 Hs.461775 GDB:10795424 MGC34192 protein-coding 1317425 CPNE8 copine VIII Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. 15489336,15489334,14702039,16381901,12886257,12670487,12477932,11230166,11123945,11076863,9430674 144402 NM_153634,AC023795,AC067735,AC069442,CH471111,AK074223,AK094998,AK098593,AY177785,BC046366,BC048260,BC068040,BC110577,BC110578,BI669075,BX538055,CR610762,R51494 NP_705898,EAW57798,EAW57799,BAC05344,AAO21123,AAH46366,AAI10578,AAI10579,Q0JUM0,Q86VY2,Q86YQ8,CAL37791 Hs.40910 MGC129645|MGC129646 protein-coding 1604226 CPNE9 copine family member IX 16335952,15489334,15028280,12477932,11123945,9430674 151835 NM_153635,AC022382,AA758411,BC035735,BC130375,BM545574,BU101942,BX453546,CA307982 NP_705899,AAH35735,AAI30376,Q8IYJ1 Hs.121335 KIAA4217 protein-coding 1342793 CPO carboxypeptidase O 15815621,15489334,12477932,11836249 130749 NM_173077,AC019052,CH471063,AJ422118,BC112076,BC112078,BK000189 NP_775100,AAX93277,EAW70399,CAD19478,AAI12077,AAI12079,DAA00036,Q8IVL8 Hs.684103 GDB:119070 MGC138281|MGC138283 protein-coding 1323470 CPOX coproporphyrinogen oxidase 1600955,1600958,1580863,1578396 9888388,8159699,8407975,17179900,16343843,16258391,16176984,16159891,15896662,15489334,14669009,12862310,12477932,12227458,12208494,12181641,12059041,11309681,11248690,9843038,9454777,9373149,9298818,9048920,8990017,8286403,8125298,8012360,7987309,7959694,7849704,7757079 1600955,1600958 1371 NM_000097,AC021660,CH471052,Z34531,AK223481,AK290140,BC017210,BC023551,BC023554,BX648974,D16611,Z28409 NP_000088,EAW79854,CAA84292,BAD97201,BAF82829,AAH17210,AAH23551,AAH23554,BAA04033,CAA82250,P36551,Q53F08 Hs.476982 CPO|CPX|HCP protein-coding 1351949 CPP ceruloplasmin (ferroxidase) pseudogene 15752613,3427102 340451 NG_001106,AC104966,M18058 GDB:119798 pseudo 70833 CPS1 carbamoyl-phosphate synthetase 1, mitochondrial The protein encoded by this gene is an enzyme that catalyzes the first committed step of the hepatic urea cycle, which is important in the removal of excess urea from cells. There are two isozymes of this enzyme, and the encoded protein is the mitochondrial form. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. 1582379,1600715,1600716,1600717,704404,1300048,1580863 1840546,12620389,17597649,17188582,15715943,15617192,15342556,15164414,15146197,14718356,12955727,12853138,12655559,11474210,12477932,11407344,9711878,8486760,7590739,2517620 1582379,1600715,1600716,1600717 1373 NM_001875,NM_001122633,NM_001122634,AC008172,AF536523,AY167007,CH471063,AB180933,AY317138,BC020695,BC058010,BP244862,BX537776,BX640601,CN367875,D90282,DC402554,Y15793,AL704546,AB180934,AB180935,AB180936,AB180937,AB180938,AB208800,AF154830,AK289749 NP_001866,NP_001116105,NP_001116106,AAY14960,AAN77181,AAO31763,EAW70492,EAW70493,EAW70494,BAD74204,AAP84318,AAH20695,AAH58010,CAE45707,BAA14328,CAA75785,P31327,Q05CV6,Q53TL5,Q59HF8,Q5R206,Q5R207,Q5R208,Q5R209,Q5R210,Q5R211,Q6PEK7,BAD74205,BAD74206,BAD74207,BAD74208,BAD74209,BAD92037,AAD38072,BAF82438 Hs.149252 GDB:119799 protein-coding 1315001 CPSF1 cleavage and polyadenylation specific factor 1, 160kDa Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM] 1580863 7590244,14667819,12226669,15489334,15302935,14749727,12477932,12392551,11992410,11739730,11124521,11060040,10669729,9311784,9002523,8654386,8302877,7651824,1756731 29894 AF205589,CH471162,AB046744,BC009954,BC017232,NM_013291,BC028197,CD299980,CR599352,CR600757,CR602307,CR603069,CR623028,U37012 NP_037423,EAW82106,EAW82107,EAW82108,EAW82109,EAW82110,BAB21613,AAH17232,AAC50293,Q10570,Q9C0J6,ABM84405,ABM87355 Hs.493202 GDB:10796298 CPSF160|HSU37012|P/cl.18 protein-coding 1343883 CPSF1P1 cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1 129099 NG_005204,AL008723 GDB:11510543 dJ90G24.5 pseudo 1320166 CPSF2 cleavage and polyadenylation specific factor 2, 100kDa 1580863 17353931,12226669,17081983,16344560,15489334,8302877,7969155,7590244,14702039,12477932,11526086,11124543,15302935,14749727,11060040,10983978,10718198,10669729,9002523,8654386,8440247 53981 NM_017437,AL121773,CH471061,AB037788,AK001627,AK001912,AK023583,AL442079,AU132572,BC060854,BC070095,BU071571 NP_059133,EAW81480,EAW81481,EAW81482,EAW81483,BAA92605,CAC09445,AAH70095,Q9P2I0 Hs.657632 GDB:10796299 CPSF100|KIAA1367 protein-coding 1313998 CPSF3 cleavage and polyadenylation specific factor 3, 73kDa 1580863 8929409,12226669,7969155,17669424,17128255,15489334,15324660,15194760,14749727,12477932,11060040,10669729,9373149,9002523,8302877,8125298,7590244 51692 AC080162,CH471053,AF017269,AF171877,AK025440,AK223487,BC011654,BC014106,BC020211,BC030988,BC043432,CR615280,EF036508,NM_016207 NP_057291,AAY14858,EAX00989,EAX00990,AAB70268,AAF00224,BAD97207,AAH11654,AAH20211,AAH30988,ABO65094,Q05BZ5,Q53F02,Q53RS2,Q9UKF6,ABW03853 Hs.515972 GDB:10796301 CPSF|CPSF-73|CPSF73 protein-coding 1603031 CPSF3L cleavage and polyadenylation specific factor 3-like The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16710414,16381901,16189514,15684398,15489336,15489334,14702039,12477932,11230166,11076863 54973 NM_017871,AL139287,CH471183,AA687684,AK000549,AK021939,AK022675,AK023356,AK027767,AK056652,AK058018,AK092190,AK123641,AK291387,AL136813,BC000675,BC007978,BC008041,BC013904,BC020199,BC042444,BC047576,BK005673,BK005728,CR533557,CR592541,CR614665,CR623939,CR625226 NP_060341,CAI23176,CAI23177,CAI23178,CAI23180,CAI23181,CAI23182,EAW56232,EAW56233,EAW56234,EAW56235,EAW56236,EAW56237,EAW56238,EAW56239,EAW56240,EAW56241,EAW56242,EAW56243,EAW56244,BAA91246,BAB13943,BAB14541,BAC85668,BAF84076,CAB66747,AAH00675,AAH07978,AAH08041,AAH13904,AAH20199,DAA05669,DAA05728,CAG38588,Q5TA44,Q5TA45,Q6ZW39,Q96HV7,CAL38096 Hs.6449 CPSF73L|FLJ13294|FLJ20542|INT11|INTS11|RC-68|RC68 protein-coding 736724 CPSF4 cleavage and polyadenylation specific factor 4, 30kDa Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. 727752,1580863 17522219,16341674,16189514,15489334,14749727,12690205,12477932,11060040,9651582,9224719,9002523,8889549,8302877,7969155 727752 10898 NM_006693,NM_001081559,AC073063,CH236956,CH471091,EF191081,AA040394,AI076832,BC003101,BC050738,BM757197,BM787372,BQ052009,BQ641871,CR542161,CR613235,CR622877,CR625041,CX754488,U79569 NP_006684,NP_001075028,EAL23878,EAW76662,EAW76663,EAW76664,EAW76665,EAW76666,EAW76667,EAW76668,ABN05292,AAH03101,AAH50738,CAG46958,AAD00321,O95639 Hs.489287 GDB:9958463 CPSF30|NAR|NEB1 cleavage and polyadenylation specific factor 4, 30kd subunit protein-coding 2290025 CPSF4L cleavage and polyadenylation specific factor 4-like 16625196 642843 XM_926241,XM_001718139,XM_940633,AC087301,CH471099 XP_931334,XP_001718191,XP_945726,EAW89121,A6NMK7 Hs.534707 protein-coding 1312196 CPSF6 cleavage and polyadenylation specific factor 6, 68kDa The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. 14561889,15169763,14690600,9659921,17267687,17024186,16344560,16189514,15937220,15489334,12477932,9373149,8626397,8125298,17353931,11060040 11052 NM_007007,AC020656,CH471054,X67336,AK223568,AK292024,AW189370,BC000714,BC005000,CR601123,CR623508,DA365448,X67337 NP_008938,EAW97215,EAW97216,EAW97217,EAW97218,EAW97219,CAA47751,BAD97288,BAF84713,AAH00714,AAH05000,CAA47752,Q16630,ABM83085,ABW03489 Hs.369606 GDB:9956328 CFIM|CFIM68|HPBRII-4|HPBRII-7 protein-coding 735945 CPT1A carnitine palmitoyltransferase 1A (liver) The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1600732,1300048,1580863 7892212,18253084,17452323,17445541,17089095,16806233,16697732,16344560,16271724,16246309,15846373,15669684,15647998,15489334,14711372,14517221,12477932,12464674,12189492,12111367,11441142,11350182,11001805,10408760,9691089,9070950,9070836,11095714 1600732 1374 NM_001031847,NM_001876,AJ420747,AJ420748,AP000808,AP003732,CH471076,AA632225,AJ420378,AK025307,AK172798,AK309464,AK314301,BC000185,BT009791,CR599853,DB063502,L39211 NP_001027017,NP_001867,CAD12625,CAD59673,EAW74721,EAW74722,CAD12576,BAG36955,AAH00185,AAP88793,AAC41748,P50416,Q8WZ48 Hs.503043 GDB:597642 CPT1|CPT1-L|L-CPT1 carnitine palmitoyltransferase 1, liver protein-coding 619557 CPT1B carnitine palmitoyltransferase 1B (muscle) The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. At least four transcript variants encoding two different isoforms have been found for this gene, and one of the transcripts is bicistronic. In addition, two of the transcripts utilize alternative polyadenylation signals. 1300048,1580863 10408760,11257506,16054041,17987377,17089095,15647998,15579906,15356291,12565845,12477932,12015320,11258795,11001805,10918069,10591208,10493829,9373149,9344464,9224698,9199240,9070950,8679700,8125298,11095714 1375 NM_152245,NM_004377,NM_152246,NG_003100,NM_152247,AB003286,CH471138,U62317,AB051457,AI142100,AK223174,AK291316,BC021130,BC131570,BC142954,BG426428,CR619413,D87812,U62733,Y08682,Y08683,U66828 NP_689451,NP_004368,NP_689452,NP_689453,BAA21492,EAW73568,EAW73569,EAW73570,EAW73571,EAW73572,AAB03343,BAB33340,BAD96894,BAF84005,AAI31571,AAI42955,BAA13461,AAC51122,AAB40651,CAA69938,CAA69939,Q53FV7,Q92523,AAI43072,AAI50319 Hs.439777 GDB:3793227 CPT1-M|KIAA1670|M-CPT1 protein-coding 1313382 CPT1C carnitine palmitoyltransferase 1C 1580863 18192268,15489334,14702039,12477932,12376098,11001805,11095714 126129 NM_152359,AC011495,AF331918,CH471177,AB208884,AF357970,AK074389,AK096516,AK289713,AK290092,AL831876,BC029104 NP_689572,AAQ14875,EAW52523,EAW52524,EAW52525,EAW52526,EAW52527,EAW52528,EAW52529,EAW52530,EAW52531,EAW52532,EAW52533,BAD92121,AAL99615,BAB85068,BAF82402,BAF82781,CAD38561,AAH29104,Q59H75,Q5K6N5,Q8TCG5,ABM82478,ABM85665 Hs.112195 CATL1|CPT1P|CPTIC|FLJ23809 protein-coding 736835 CPT2 carnitine palmitoyltransferase II The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. 1600742,734814,1300048,1580863 7711730,1988962,11257506,16054041,18024217,17936304,17709715,17651973,17179390,16996287,16710414,16671104,16670153,16168441,15754283,15647998,15642848,15622536,15489334,14615409,14605500,12971426,12707442,12477932,12410208,12408750,11994355,11855939,11477613,11001805,10607472,10090476,9758712,9600456,9373149,8651281,8499929,8358442,8125298,8086471,7896283,7892212,2174799,1961767,1528846,1339389,11095714 1600742,734814 1376 NM_000098,AL606760,CQ789417,U09646,X78707,AK223052,BC002445,BC005172,BU629852,CR598552,M58581,U09648,CH471059 NP_000089,CAI18907,CAG24446,AAB60382,CAA55360,BAD96772,AAH02445,AAH05172,AAB59462,AAB60383,P23786,Q53G79,EAX06753 Hs.705379 GDB:127272 CPT1|CPTASE carnitine palmitoyltransferase 2 protein-coding 1345667 CPVL carboxypeptidase, vitellogenic-like The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. At least two alternatively spliced transcripts which encode the same protein have been observed. 1580863 16303743,15489334,14702039,12975309,12853948,12690205,12477932,11401439,11042152,10610771,10527689,9780222,9373149,8125298,17353931 54504 CR625865,NM_031311,AC005162,AC005232,AC007096,CH236948,CH471073,AF106704,AF217508,NM_019029,AF282617,AK075433,AK124472,AK225545,AY358549,BC016838,CR593867,CR595924,CR596105,CR597484,CR600754,CR601820,CR603250,CR603975,CR607237,CR613388,CR623624,CR623778,CR624622,CR625045 O75225,Q75MM4,Q9H3G5,Q9NZ90,ABM82380,NP_061902,NP_112601,AAC23787,AAS07545,EAL24207,EAW93914,EAW93915,EAW93916,EAW93917,EAW93918,AAG37991,AAF67619,AAG14348,BAC11618,AAQ88913,AAH16838 Hs.233389 GDB:11500995 HVLP|MGC10029 protein-coding 1343310 CPX cleft palate and/or ankyloglossia 1377 GDB:120598 1345373 CPXCR1 CPX chromosome region, candidate 1 1580863 12477932,11499681 53336 NM_033048,AL031116,CH471104,AF284767,AK098646,BC027614,BU570042 NP_149037,CAI43119,EAW98549,EAW98550,EAW98551,AAK69720,BAC05363,AAH27614,Q8N123,ABM82606,ABM85791 Hs.458292 GDB:10796302 protein-coding 1315836 CPXM1 carboxypeptidase X (M14 family), member 1 The protein encoded by this gene is a member of the M14 family of zinc carboxypeptidases; however, the protein has no detectable carboxypeptidase activity. The encoded protein is thought to be an extracellular and/or membrane protein, and may be involved in cell-cell interactions. 1580863 15489334,15146197,14759258,14702039,12975309,12477932,11780052,10073577 56265 BX366559,CN308423,CR621966,NM_019609,AL035460,CH471133,CS208031,AI470029,AK027661,AK075508,AK075527,AL541188,AW874578,AY358956,BC032692,BC063430 Q8N2E1,Q8N2F1,Q96SM3,NP_062555,CAB82246,EAX10575,CAJ44941,BAB55275,BAC11661,BAC11672,AAQ89315,AAH32692,AAH63430 Hs.659346 GDB:11505832 CPX1|CPXM carboxypeptidase x (m14 family) protein-coding 1345488 CPXM2 carboxypeptidase X (M14 family), member 2 737633,1580863 15489334,15231748,12975309,12477932,9809751 737633 119587 NM_198148,AC009987,AC068058,CH471066,AL833732,AY358565,BC027623,BC036789 NP_937791,EAW49279,CAH56260,AAQ88928,AAH27623,AAH36789,Q49AT5,Q658N0,Q8N436 Hs.656887 UNQ676 protein-coding 731300 CPZ carboxypeptidase Z This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. 1580863 9099699,15489334,14702039,12477932,12417617,11766880,10671522,10080937 8532 NM_001014448,NM_001014447,NM_003652,AC105345,CH471131,AI270606,AK056317,AK127844,BC006393,BC018913,BC080539,CR611914,U83411 NP_001014448,NP_001014447,NP_003643,EAW82332,EAW82333,EAW82334,EAW82335,BAB71147,AAH80539,AAB58911,Q66K79 Hs.78068 GDB:9865771 MGC99682 protein-coding 1603411 CR1 complement component (3b/4b) receptor 1 (Knops blood group) This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. 15526369,15388259,15381817,15176657,15163541,15072851,15069174,14694201,14635039,14556965,12869997,12773320,12490287,12486610,12477932,12091241,12083416,11981823,11955431,11896343,2972794,18182380,11884446,11694537,11313284,11120776,10737800,10698335,10528211,10528197,10382758,9988761,9614933,9230440,9089986,8422437,8245463,6978375,6572933,6230413,6223944,6222138,6126949,6115248,4019777,3782802,3736743,3305706,3157763,3156931,3155774,3031685,3014040,2989379,2977721,2971757,2959289,2951479,2933745,2877046,2564414,2551147,2531419,2478758,2411809,2295627,1827486,1708809,1708808,1670949,7690834,15578041,15529364,18075277,18028942,17999656,17709521,17467802,17207243,16433910,16426237,16360013,16277654,16133175,15864913,15733500,15728520,15660833 1378 NM_000573,NG_007481,AF169969,AF169970,AF264715,AF264716,AL137789,AL691452,AY701493,AY701494,AY701495,AY701496,AY701497,AY701498,AY701499,AY701500,AY701501,NM_000651,AY701502,AY701503,AY701504,CH471100,L17390,L17418,M31241,X14358,X14361,BC032550,BF900429,BX113709,BX643705,CR595595,CR616598,M11569,M11617,M11618,X05309,X14362,Y00816 NP_000642,NP_000564,AAG09139,AAG09140,AAG14442,AAG14443,CAI16723,CAI16724,CAI16725,CAI16726,CAI16727,CAI16728,AAV65566,AAV65567,AAV65568,AAV65569,AAV65570,AAV65571,AAV65572,AAV65573,AAV65574,Q5SR44,Q5SR45,Q9HB98,Q9HB99,Q9HC54,Q9HC55,Q9UQR7,AAV65575,AAV65576,AAV65577,EAW93480,AAB60694,AAB60695,AAD15289,CAA32538,CAE82047,CAA32540,AAA52297,AAA52298,AAA52299,CAA28933,CAA32541,CAA68755,O76106,P17927,Q16521,Q16744,Q5SBJ5,Q5SBJ6,Q5SBJ7,Q5SBJ8,Q5SBJ9,Q5SBK0,Q5SBK1,Q5SBK2,Q5SBK3,Q5SBK4,Q5SBK5,Q5SBK6,Q5SR40,Q5SR41,Q5SR42,Q5SR43 Hs.334019 GDB:119800 C3BR|CD35|KN protein-coding 1348835 CR1L complement component (3b/4b) receptor 1-like 16344560,14687939,12477932,10737800,2295627 1379 NM_175710,AL137789,AL365178,CS300531,M31230,M31231,M31232,M31233,M31234,M31235,M31236,M31237,AY114160,BC109190,BC109191,BE842163,BE842176,BX094042,DB337938 NP_783641,CAK32195,AAM47024,AAI09191,AAI09192,Q2VPA4,Q5VWT3 Hs.628568,Hs.655194 GDB:119801 MGC129536 protein-coding 1320753 CR2 complement component (3d/Epstein Barr virus) receptor 2 Complement component receptor-2 (CR2) is the membrane protein on B lymphocytes to which the Epstein-Barr virus (EBV) binds during infection of these cells. See also CR1 (MIM 120620). Yefenof et al. (1976) [PubMed 181330] found complete overlapping of EBV receptors and C3 (MIM 120700) receptors on human B lymphocytes.[supplied by OMIM] 1580863 16785534,16740600,16375923,16344560,16289966,15905540,15795251,15713468,15713467,15603708,15187133,14635039,14607925,12813023,12713795,12546713,12477932,12444129,12149502,12122212,11981823,11813981,11739509,11698449,11684127,11466369,11387479,10068037,9796912,9373149,8996252,8766552,8390533,8125298,7780154,7753047,7690834,7515913,3782802,3016712,2832506,2528587,2161885,1849076,1831222,1830068,1708808,1702139,2827171,11728339,2563370,18174230,17881405,17360460,17301948,17118449,16987062,16920989,16806233,16803874,1424280,1383329,1323059,181330,8474169 1380 NM_001877,AL391597,AL691452,CH471100,M26016,AI765035,AK223627,AU133057,AW303499,BC032548,BC090937,BQ004295,J03565,M26004,NM_001006658,S62696,Y00649 NP_001006659,NP_001868,CAH72949,CAH72950,CAH72951,CAI16729,CAI16730,CAI16731,EAW93481,EAW93482,EAW93483,AAB04638,BAD97347,AAH90937,AAA35784,AAA35786,AAB27186,CAA68674,P20023,Q53EL2,Q5BKT9,Q5VW85,Q5VW86,Q5VW87,Q9H2B3 Hs.445757 GDB:119802 C3DR|CD21|SLEB9 protein-coding 1345653 CRABP1 cellular retinoic acid binding protein 1 A number of specific carrier proteins for members of the vitamin A family have been discovered. Cellular retinoic acid-binding protein is assumed to play an important role in retinoic acid-mediated differentiation and proliferation processes. CRABP1 is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid. CRABP1 is constitutively expressed and is believed to have different functions in the cell than the related CRABP2. 1580863 1309505,18000064,17727842,17623056,17438526,17167179,16254461,15489334,15281009,14713576,14605320,12640681,12477932,9704013,9154115,9005841,2825608,1654334,15607035,8999826 1381 NM_004378,AC011270,CH471136,AL110113,BC022069,CR457017,S74445 NP_004369,EAW99172,AAH22069,CAG33298,AAB20773,P29762,ABM87829,ABW03735 Hs.346950 GDB:120343 CRABP|CRABP-I|CRABPI|RBP5 protein-coding 731412 CRABP2 cellular retinoic acid binding protein 2 A number of specific carrier proteins for members of the vitamin A family have been discovered. Cellular retinoic acid binding proteins (CRABP) are low molecular weight proteins whose precise function remains unknown. The inducibility of the CRABP2 gene suggests that this isoform is important in retinoic acid-mediated regulation of human skin growth and differentiation. It has been postulated that the CRABP2 gene is transcriptionally regulated by a newly synthesized regulatory protein. 1580863 1654334,1334086,17484622,17187826,16979656,16912187,16710414,16215318,15870697,15866176,15489334,15225641,14766225,12844477,12482873,12477932,11909957,10531482,9737883,9737849,9600845,9238678,9154115,8381448,8048948,7704533,7563063,1321791,1309505,16189514,8999826 1382 NM_001878,AL590666,CH471121,M97815,BC001109,BT019827,CR450357,M68867 NP_001869,CAI16339,CAI16340,EAW52921,EAW52922,AAA58430,AAH01109,AAV38630,CAG29353,AAA52068,P29373,Q5SYZ4,ABM83191,ABM87850 Hs.405662 GDB:134819 CRABP-II|RBP6 protein-coding 1347111 CRAC1 colorectal adenoma and carcinoma 1 10092300,12117880 338377 1322237 CRADD CASP2 and RIPK1 domain containing adaptor with death domain The protein encoded by this gene is a death domain (CARD/DD)-containing protein and has been shown to induce cell apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the cell death signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers of other CARD domain-containing proteins. 1580863 15073321,16652156,9044836,17329820,16434054,15489334,12477932,11832478,11156409,11002417,10713730,9806843,9695946,8985253,8889549,8617505,16189514 8738 NM_003805,AC012085,AC012464,AC025261,CH471054,AA150833,AI791547,BC017042,BC037905,BT009837,CD696130,CR407643,U79115,U84388 Q53XL1,Q8IY43,ABM82706,ABM85890,NP_003796,EAW97497,AAH17042,AAH37905,AAP88839,CAG28571,AAB42217,AAC50952,P78560 Hs.38533,Hs.591016 GDB:9956781 MGC9163|RAIDD protein-coding 1323669 CRAMP1L Crm, cramped-like (Drosophila) 14702039,12477932,11157797,10718198 57585 NM_020825,AL031009,AL031708,CH471112,Z97652,AB037847,AK056087,AK095591,BC137172,BC137173,BC152477,BE048705,BM451163 NP_065876,CAM26477,EAW85640,EAW85641,CAM26431,BAA92664,AAI37173,AAI37174,AAI52478,Q96RY5 Hs.603676 GDB:11500711 HN1L|MGC176736|TCE4 protein-coding 1350289 CRAT carnitine acetyltransferase Carnitine acetyltransferase (CRAT) is a key enzyme in the metabolic pathway in mitochondria, peroxisomes and endoplasmic reticulum. CRAT catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acylCoA/CoA in the subcellular compartments. Different subcellular localizations of the CRAT mRNAs are thought to result from alternative splicing of the CRAT gene suggested by the divergent sequences in the 5' region of peroxisomal and mitochondrial CRAT cDNAs and the location of an intron where the sequences diverge. The alternatively splicing of this gene results in three distinct isoforms, one of which contains an N-terminial mitochondrial transit peptide, and has been shown to be located in mitochondria. 1580863 1456745,7945262,7829107,15489334,15099582,12562770,12526798,12477932,12077440,11001805 1384 NM_004003,AL158151,CH471090,X79825,BC000723,BQ068230,BT006801,CR596033,CR615872,X78706,NM_000755 NP_000746,NP_003994,CAI12869,CAM14693,CAO03335,CAO03336,EAW87873,EAW87874,EAW87875,AAH00723,AAP35447,CAA55359,P43155,Q5T951,Q5T952 Hs.12068 GDB:359759 CAT1 protein-coding 1320564 CRB1 crumbs homolog 1 (Drosophila) This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined. 1600967,1600966,1580863 10508521,18334942,17988153,17724218,16936081,16767206,16710414,16543197,16505055,16272259,15914641,15623792,15459956,15024725,12843338,12700176,12573663,12567265,11927608,11850624,11734541,11559858,11389483,11231775,10373321,8646891,8001962,17353931 1600967,1600966 23418 NM_201253,AL136322,AL139136,AL513325,CH471067,AB208923,AF154671,AJ748821,AK289733,AY043323,AY043324,AY043325,BX640729 NP_957705,CAI15310,CAI15311,EAW91277,BAD92160,AAF01361,CAG38658,BAF82422,AAL10680,AAL10681,AAL10682,CAE45845,P82279,Q59H36,Q8WWY1 Hs.126135 GDB:333930 LCA8|RP12 protein-coding 1347869 CRB2 crumbs homolog 2 (Drosophila) 17988153,17190600,15851977,15164053,14767562,14702039 286204 NM_173689,AL365504,AL445489,CH471090,AK095783,AK123000,AK124819,AK126775,AY720432 NP_775960,CAI41011,EAW87567,EAW87568,BAC04626,BAC85516,BAC86684,AAU14134,Q0QD46,Q5IJ48,Q8N930 Hs.568340 FLJ16786|FLJ38464|RP11-230L22.2 protein-coding 1348954 CRB3 crumbs homolog 3 (Drosophila) This gene encodes a member of the Crumbs family of proteins. This protein may play a role in epithelial cell polarity and is associated with tight junctions at the apical surface of epithelial cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 17988153,17646395,15976445,15489334,15146197,14718572,12975309,12771187,12527193,12477932,11964389 92359 NM_174881,AC010503,CH471139,AF503290,AK000653,AK292956,AY103469,AY358684,BC002652,BC018409,BM129809,CN403242,NM_139161 NP_631900,NP_777377,EAW69083,EAW69084,EAW69085,EAW69086,AAM23013,BAF85645,AAM44074,AAQ89047,AAH02652,AAH18409,Q9BUF7 Hs.150319 protein-coding 1321492 CRBN cereblon 737633,1580863 15557513,15489334,14702039,12477932,10932263,10931946 737633 51185 AC024060,CH471055,AF117230,AK027507,AK058191,AK123077,AL711072,BC017419,BC059171,BC067811,NM_016302,BX647351,CR608669,CR617747,CR627060 NP_057386,EAW63890,EAW63891,EAW63892,EAW63893,EAW63894,EAW63895,EAW63896,EAW63897,AAF17211,BAB55162,AAH17419,AAH67811,CAH10361,Q96SW2 Hs.18925 DKFZp781K0715|MGC27358|MRT2A protein-coding 1353300 CRCT1 cysteine-rich C-terminal 1 16710414,16169070,12477932,11230159 54544 NM_019060,AL135842,CH471121,AJ243662,BC119710,CR457218 NP_061933,CAI23351,EAW53379,CAB65093,AAI19711,CAG33499,Q9UGL9 Hs.110196 C1orf42|NICE-1 protein-coding 730886 CREB1 cAMP responsive element binding protein 1 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in two transcript variants encoding different isoforms. 734815,734818,734817,734816,1580863 8552098,10909971,8798441,2974179,9687510,9770464,9829964,18189280,18160048,18070920,18034423,18024382,17975014,17909078,17827388,17822787,17805329,17786359,17727817,17724745,17712720,17661722,17646388,17592483,17573727,17565603,17565599,17565598,17565597,17548750,17507637,17476304,17460549,17455223,17449469,17426037,17389598,17310988,17300755,17289023,17276404,17202341,17169345,17082618,16978443,16963449,16920714,16896160,16822311,16820098,16598418,16483570,16449647,16306050,16227528,16207795,16207717,16169070,16158061,16134057,15999345,15917247,15901830,15879136,15837624,15753290,15694837,15691874,15615708,15588513,15579595,15500908,15489334,15340044,15153340,15082775,15077295,14962944,14764597,14761884,14754893,14742439,14702039,14646589,14597636,14597631,14580193,14523007,14506290,12851637,12829027,12805224,12773552,12743114,12720543,12690113,12676584,12622660,12567184,12552083,12519783,12477932,12437352,12391222,12391146,12368293,12235136,12220644,12200150,12198160,12183445,12162494,12145339,12091337,11988318,11909979,11698596,11377386,11313407,11175347,11160957,11156964,11046156,11018520,10886376,10720489,10650954,10567391,10074179,9792677,9558095,9413984,9388250,8887554,8688081,8628277,8449898,8384217,8381074,7809053,7621901,7619208,7608156,7554179,7551568,7505393,2142528,2142119,1966745,1831258,1655749,1461747,1386673,16339753,10848610,10866654,10506141,15073328,12196545,11259575,9786917,8663317,10945975,7565761,16189514,15897899,16007092,15961999,15806162,7769693,15454081,15688015,15691881 734815,734818,734817,734816 1385 NM_134442,NM_004379,AC009298,AC079767,CH471063,S53722,S53724,S72459,AK091534,AK095116,AK123952,AK126342,AY347527,BC010636,BC095407,BT019509,CR407617,CR621261,M27691,M34356,S78693,S78695,X55545,X60003 NP_604391,NP_004370,AAX88961,AAX93174,EAW70405,EAW70406,EAW70407,EAW70408,EAW70409,EAW70410,AAD13869,AAB20597,AAQ24858,AAH10636,AAH95407,AAV38316,CAG28545,AAA35715,AAA35716,AAA35717,AAB34949,AAB34950,CAA39151,CAA42620,P16220,Q16366,Q16367,Q4ZG78,Q53RU9,Q53X93,Q5U0J5,Q6V963,ABM82083,ABM85262 Hs.516646,Hs.584750 GDB:119803 CREB|MGC9284 protein-coding 1318829 CREB3 cAMP responsive element binding protein 3 This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-responsive element, an octameric palindrome. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. An additional transcript variant has been identified, but its biological validity has not been determined. 1580863 18189280,17296613,17192849,16940180,15705566,15489334,15001559,12477932,12271126,12138176,10984507,10675342,10629049,10623756,9389645,9271389,17054986,16189514,12235138,9658067 10488 NM_006368,AF211847,AL133410,CH471071,U59629,AF009368,AF029674,AF211848,BC009402,BC010158,BG701230,BQ014045,CR590344,CR590714,CR593747,CR596870,CR597898,CR605383,CR605398,CR610001,CR623420,CR624840,U88528 NP_006359,AAG43527,CAI10980,EAW58350,EAW58351,AAD09210,AAB69652,AAB84166,AAG43528,AAH09402,AAH10158,AAC04325,O43889,Q5TCV1,ABZ92397 Hs.522110 GDB:9957119 LUMAN|LZIP|MGC15333|MGC19782 protein-coding 1342471 CREB3L1 cAMP responsive element binding protein 3-like 1 1580863 9110174,8619474,16189514,17721195,16344560,12805554,12477932,12054625 90993 NM_052854,AC116021,CH471064,AB063321,AF055009,AK075538,BC014097,BC015781,BQ953032,DA693632 NP_443086,EAW68010,BAC01278,BAC11681,AAH14097,AAH15781,Q96BA8,ABM86735,ABW03816 Hs.405961 OASIS protein-coding 1314429 CREB3L2 cAMP responsive element binding protein 3-like 2 CREB3L2 is a member of the old astrocyte specifically induced substance (OASIS) DNA binding and basic leucine zipper dimerization (bZIP) family of transcription factors, which includes CREB3 (MIM 606443) and CREB4 (MIM 607138).[supplied by OMIM] 17721195,17178827,17117415,12915480,12690205,12477932 64764 AC009263,AC022173,CH236950,CH471070,AJ549092,AJ549093,AJ549094,AJ549387,AK131517,AK293048,AL080209,BC015585,BC046181,BC063666,BC110813,BC131723,BQ711676,BX648300,BX649143,NM_194071,CR749563 NP_919047,EAL24050,EAW83878,EAW83879,EAW83880,CAD79342,CAD79343,CAD79344,CAD79347,BAD18659,BAF85737,AAH46181,AAH63666,AAI10814,AAI31724,CAH18360,Q68D60,Q70SY1,Q70T20,Q70T21,Q86VD4,Q8IY69,ABZ92049 Hs.490273 BBF2H7|MGC131709|MGC71006 protein-coding 1317760 CREB3L3 cAMP responsive element binding protein 3-like 3 17875199,16713569,15221005,12805554,12477932,12039695,11353085 84699 NM_032607,AC005620,AC016586,CH471139,AB050902,AB073612,AK172839,BC101504,BC101508 NP_115996,AAC34469,EAW69260,EAW69261,BAB47242,BAD38649,BAD18804,AAI01505,AAI01509,Q68CJ9,Q9Y4A3,ABZ92411 Hs.247744 CREB-H|HYST1481|MGC126553|MGC126557 protein-coding 1347233 CREB3L4 cAMP responsive element binding protein 3-like 4 cAMP response element-binding (CREB) proteins are a family of mammalian transcription activators. For further background information on CREB proteins, see CREB1 (MIM 123810).[supplied by OMIM] 17712038,16236796,12477932,12111373,11956138,11830526 148327 NM_130898,AB052781,AL358472,CH471121,AB052778,AF394167,AF468007,AY049977,BC038962,BX647716,CR592077,CR610829,CR621422,CR624400,CR624438 NP_570968,BAC45224,CAI14023,CAI14024,CAI14025,CAI14026,CAI14027,EAW53251,EAW53252,EAW53253,EAW53254,EAW53255,EAW53256,EAW53257,EAW53258,BAC45035,AAL76113,AAO33070,AAL13157,AAH38962,Q5T4K9,Q5T4L2,Q8TEY5,ABZ92414 Hs.372924 AIBZIP|ATCE1|CREB3|CREB4|JAL|hJAL protein-coding 1606026 CREB5 cAMP responsive element binding protein 5 The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. 8378084,15489334,14702039,12853948,12477932,11329013,9847074,8440710 9586 NM_182899,NM_182898,NM_004904,NM_001011666,AC003074,AC005013,AC005105,AC006331,AC006367,AC006980,CH236948,CH471073,AB209262,AK057151,AK292916,BC059400,BG199550,BX282747,L05515,L05911,L05912,L05913 NP_878902,NP_878901,NP_004895,NP_001011666,AAS00387,AAP22329,EAW93908,EAW93909,EAW93910,BAD92499,BAF85605,AAH59400,AAA52072,AAC37525,AAC37527,AAC37526,Q02930,Q59G47,Q75N02 Hs.437075 CRE-BPA protein-coding 619552 CREBBP CREB binding protein (Rubinstein-Taybi syndrome) 1298794,1581226,1581227,734820,734819,1300048,1580863 15171256,15161102,15126506,15075319,15024056,14974086,14960326,14767476,14759370,14744133,14734447,14720327,14716005,14691252,14660657,14657027,14645221,14612417,14597638,13678586,12964026,12947046,12929931,12857754,12789342,12788643,12776737,12748286,12736710,12732631,12730195,12696060,12682370,12665568,12665567,12646247,12642036,12634356,12622724,12604599,12569367,12566391,12549909,12540838,12527917,12498683,12496368,12477932,16611888,16598755,16528103,16476742,16417649,16359492,16293623,16287980,16254053,16219772,16219677,16207717,16195339,16166624,16122695,16061203,16055710,16051665,16050810,16021471,16012757,16001085,15987788,15961999,15957955,15937088,15929978,15910736,15882811,15834423,15833741,15752756,15750622,15735682,15706485,15703171,15701835,15695802,15687488,15649887,15641773,15623506,15616580,15572674,15555599,15522869,15509593,15507449,15467747,15333839,15304484,15299023,8621548,11742995,7913207,8028671,12435739,12586840,8684459,15261140,12169688,17332504,18272581,18243132,18160400,18070920,17962194,17908689,17855048,17825790,17724614,17721610,17707401,17704997,17702016,17641689,17579344,17548929,17468767,17460549,17434128,17410209,17321669,17296583,17272271,17253932,17126870,17073437,17052327,16969114,16926151,16916647,16858508,16786139,16709925,16707484,16672767,16651533,16613851,15231748,12473110,11864910,11864601,11823864,11799127,11782467,11748222,11744733,11740489,11739381,11713256,11691934,11689696,11683914,11585930,11581372,11574547,11568182,11564893,11564891,11559821,11547919,11514544,11481323,10866654,10852958,10848610,10848577,10823891,10811635,10801418,10801129,10783242,10777539,10748110,10722728,10708567,10673036,10666450,10655477,10644760,10610177,10607594,10521456,10497212,10490106,10464260,10454579,10454341,10435624,10428837,10428834,10406465,10358095,10347196,10327051,10215616,10202154,10085149,10085123,10077561,10075717,10075656,10066780,10050886,9990060,9887100,9858599,9811832,9809062,9806899,9786917,9751061,9742083,9733868,11463834,10866662,9710619,9685505,9679056,9659901,11463380,11429405,11423988,11349124,11331617,11279015,11278547,11266503,11264541,11259575,11252719,11239394,11160671,11157802,11154691,11115394,11113179,11106745,11080476,11003650,10973497,10944526,10918613,10894151,10893273,10887155,11463815,9649342,9625762,9548485,9528808,9528793,9482849,9445475,9434765,9430642,9413984,9388250,9267036,9238849,9238046,9210395,9177780,9096323,9006899,8986769,8941362,8932363,8918891,8917528,8848048,8782817,8756728,8663317,8616895,8413673,7630403,7606928,2176177,2138276,1519642,16146763,16046164,16035254,15638724,15473004,15183343,15139295,16339753,15725353,15142377,11782371,9488450,15691881,15073328,12700228,9926942,12810069,9822653,15027889,12426395,15140884,11931769,9001254,12015309,11259590,12748276,9651391,12459554,12456660,12437352,12433930,12391146,12374746,12242694,12234245,12215533,12208951,12205094,12196545,12189208,12183445,12168567,12165799,12154097,12142048,12114483,12101239,12084707,12050117,11973335,11971985,11970865,11959977,11943779,11940655,11940575,11935299,11931765,11923478,11912212,11897665,11158331,10567404,9662397,15782138,16007092,15710329,15380363,15653507,15454081,15502848,15383283,15619633,15607964,15829968,15808510,9346901,15225550,10764767,15225551,11884585 1298794,1581226,1581227,734820,734819 1387 U85962,U89354,U89355,NM_001079846,NM_004380,AC004509,AC004651,AC004760,AC006111,AC007151,CH471112,CS330044,AB210043,AK124320,BC036486,U47741 AAC51331,AAC51339,AAC51340,O60424,Q4G0V0,Q4LE28,Q75MY6,Q92793,NP_001073315,NP_004371,AAC08447,AAC17736,EAW85334,EAW85335,EAW85336,EAW85337,CAL00150,BAE06125,AAH36486,AAC51770 Hs.459759 GDB:437159 CBP|KAT3A|RSTS protein-coding 1346168 CREBL1 cAMP responsive element binding protein-like 1 The protein encoded by this gene bears sequence similarity with the Creb/ATF subfamily of the bZip superfamily of transcription factors. It localizes to both the cytoplasm and the nucleus. The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. 1580863 8586413,8870652,14702039,14656967,14574404,12782636,12477932,11256944,11163209,11158310,10644760,8923003,7686164,12445808 1388 NM_004381,NG_000013,NG_004658,NG_005163,AL049547,AL662828,AL662884,CH471081,CR753803,CR925796,U52693,U52694,U89337,X98053,AK000928,BC008394,BC077075,BT007042,U31903,U52696,U52701,X98054 NP_004372,CAB89295,CAI17416,CAI18334,CAI18336,EAX03581,EAX03582,EAX03583,EAX03584,EAX03585,CAQ09552,CAQ09553,CAQ10263,CAQ10264,AAG14898,AAG14900,AAB47487,CAA66663,BAA91431,AAH08394,AAH77075,AAP35691,AAA97438,AAC50888,AAC50883,CAA66664,Q5SSX0,Q6AZW6,Q96QL7,Q99941,Q9NWF0 Hs.42853 GDB:642262 CREB-RP|FLJ10066|G13 protein-coding 1319876 CREBL2 cAMP responsive element binding protein-like 2 cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. 1580863 9693048,14702039,12477932,9171997,8653712 1389 NM_001310,AC008115,CH471094,AF039081,AK002189,BC104873,BC106052,BC112157,CR542250,CR601775,CR605497,CR612195 NP_001301,EAW96268,EAW96269,EAW96270,AAC32314,AAI04874,AAI06053,AAI12158,CAG47046,O60519 Hs.591156 GDB:9834487 MGC117311|MGC138362 protein-coding 1603614 CREBZF CREB/ATF bZIP transcription factor 15705566,10871379,15489334,12477932,12235138 58487 NM_001039618,AP000642,CH471076,AF039942,AL110236,BC060807,BC093796,BC093798,DQ128105 NP_001034707,EAW75103,AAD28325,AAH60807,AAH93796,AAH93798,AAZ42189,Q0P5U9,Q9NS37,ABZ92408 Hs.535319,Hs.705539 ZF protein-coding 1348156 CREG1 cellular repressor of E1A-stimulated genes 1 The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. 1580863 12934103,12477932,12358155,10815803,14702039,12975309,9710587,16710414,16344469,16303743,15489334,15340161 8804 NM_003851,AL031733,CH471067,AF084523,AK075375,AK095456,AK130006,AY359071,BC006786,BC008628,BI552369,CR594091,CR603354,CR607435,CR609800,CR611446,CR616545,CR622061,CR623745,CR625312,CR626333 NP_003842,CAB42866,EAW90794,EAW90795,AAC34861,BAC04550,AAQ89430,AAH06786,AAH08628,O75629,ABM82057,ABM85236 Hs.5710 CREG protein-coding 1350803 CREG2 cellular repressor of E1A-stimulated genes 2 15489334,14702039,12477932,12408961 200407 NM_153836,AC092570,AC099797,CH471127,AB046109,AK094970,BC032949,BC047514 NP_722578,AAX82005,AAX88886,EAX01814,EAX01815,EAX01816,BAC22189,BAC04464,AAH32949,AAH47514,Q4ZFW3,Q580X0,Q8IUH2 Hs.30917 protein-coding 1319745 CRELD1 cysteine-rich with EGF-like domains 1 Epidermal growth factor (EGF; MIM 131530)-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface. CRELD1 is the founding member of a family of matricellular proteins.[supplied by OMIM] 1600967,1580863 18076106,16381901,16344560,16169070,15857420,15489336,15489334,12975309,12632326,12477932,12137942,11230166,11076863,10922384 1600967 78987 NM_001031717,NM_001077415,AC018809,CH471055,NM_015513,AF452623,AL050275,AY358363,BC008720,BX358821,CD368927,CR457380,CR595434,CR597786,CR598110,CR617554,CR619189,CR620158,DA145918 NP_056328,NP_001026887,NP_001070883,EAW64034,EAW64035,EAW64036,EAW64037,EAW64038,EAW64039,EAW64040,EAW64041,EAW64042,EAW64043,AAM75206,CAB43376,AAQ88729,AAH08720,CAG33661,Q0JS27,Q96HD1,CAL38223,CAL38687 Hs.9383 GDB:11500710 AVSD2|CIRRIN|DKFZP566D213 protein-coding 1603954 CRELD2 cysteine-rich with EGF-like domains 2 12477932,12137942,9373149,8125298,16919896,16238698,15489334,15340161,12975309 79174 NM_024324,AL671710,CH471138,AJ968414,AK225930,AL713788,AY358355,BC002894,BC050675,DQ470676,DQ470677,DQ470678,DQ470679,DQ470680 NP_077300,CAO72065,CAO72066,CAO72067,CAO72068,CAO72069,CAO72070,EAW73483,EAW73484,CAI91316,CAH56485,AAQ88721,AAH02894,AAH50675,ABF06668,ABF06669,ABF06670,ABF06671,ABF06672,Q659B4,Q6UXH1 Hs.211282 DKFZp667O055|MGC11256 protein-coding 735941 CREM cAMP responsive element modulator This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. 1581291,632385,1580863 15841182,15691874,15569686,15474076,15456763,15225122,15048659,14754893,14511788,12805554,12626549,12555239,12554693,12477932,12397208,12370343,12198160,11988318,11701720,11094064,11044457,10853989,10660577,10409662,10373550,10086359,9737722,9510963,9006899,8994192,8622971,8600391,8600390,8549766,8404858,8206879,7916662,17712720,17340624,17332439,17211988,17056544,16899810,16894555,16893891,16687568,16344560,16143638,16103121,16048633,7809053,7730336,1461747,16189514 1581291,632385 1390 NM_182853,NM_182850,NM_001881,NM_181571,NM_183060,NM_183011,NM_183012,NM_182771,NM_182772,NM_182769,NM_182770,NM_182717,NM_182719,NM_182720,NM_182718,NM_182723,NM_182722,NM_182725,NM_182721,NM_182724,AF212158,AF213899,AF217318,NM_183013,AL117336,AL157783,CH471072,AB209533,AF069065,AF417234,AK289379,AK290612,AK291566,AU140010,AY292864,BC017117,BC041810,BC066342,BC090051,BE439480,BG573680,BG719264,BX379412,CR601807,CR613240,CR614277,CR621145,D14825,D14826,S68134,S68271,U44836,Y08959,Z15159 NP_898831,NP_878273,NP_878270,NP_001872,NP_853549,NP_898883,NP_898829,NP_898830,NP_877572,NP_877573,NP_877570,NP_877571,NP_874386,NP_874388,NP_874389,NP_874387,NP_874392,NP_874391,NP_874394,NP_874390,NP_874393,AAF68266,AAF66158,AAF68682,CAH72495,CAH72496,CAH72497,CAH72498,CAH72499,CAH72500,CAI12137,CAI12138,CAI12139,CAI12140,CAI12141,CAI12142,CAI12143,CAI12145,CAI12146,CAI12147,EAW85916,EAW85917,EAW85918,EAW85919,EAW85920,BAD92770,AAC19383,AAN32656,BAF82068,BAF83301,BAF84255,AAP44115,AAH17117,AAH66342,AAH90051,BAA03562,BAA03564,BAA03565,BAA03566,BAA03567,AAC60617,AAC60616,AAB03751,CAA78858,Q03060,Q14501,Q59FC7,Q5T9H8,Q5T9I5,Q5W1A6,Q5W1A7,Q5W1B0,Q5W1B2,Q8IVD4,Q96AG7 Hs.200250 GDB:269801 ICER|MGC111110|MGC17881|MGC41893|hCREM-2 protein-coding 1343993 CRG CHARGE association 1391 GDB:265280 730946 CRH corticotropin releasing hormone Corticotropin-releasing hormone (CRH) is a 41-amino acid peptide derived from a 191-amino acid preprohormone. CRH is secreted by the paraventricular nucleus (PVN) of the hypothalamus in response to stress. Marked reduction in CRH has been observed in association with Alzheimer disease and autosomal recessive hypothalamic corticotropin dificiency has multiple and potentially fatal metabolic consequences including hypoglycemia and hepatitis. In addition to production in the hypothalamus, CRH is also synthesized in peripheral tissues, such as T lymphocytes and is highly expressed in the placenta. In the placenta CRH is a marker that determines the length of gestation and the timing of parturition and delivery. A rapid increase in circulating levels of CRH occurs at the onset of parturition, suggesting that, in addition to its metabolic functions, CRH may act as a trigger for parturition. 1581300,1581301,704397,704394,704392,704396,704393,1358525,625745,1358326,704423,704425,704424,1580863 7867564,7585095,7477348,18456686,18384079,18234674,18212352,17959886,17766644,17693031,17676473,17667919,17568667,17554801,17068474,16984517,16740657,16734917,16675846,16639867,16523405,16446741,16309788,16303743,16245303,16222669,15883387,15816833,15591024,15489334,15468147,15126558,15077295,15072543,14706771,14698679,14675801,14675201,14667971,14576187,14573312,12853091,12784189,12734882,12679466,12583606,12477932,12450317,12429558,12154211,12114295,12062896,12051390,12011471,11936276,11932939,11854458,11555839,11511529,11406119,11341487,11182747,11168450,11140838,10822340,9783915,9620773,9178757,8386360,8243338,8161822,7589495,7489943,6605851,3262120,3259914,2783917,2365075 1581300,1581301,704397,704394,704392,704396,704393,1358525,625745,1358326,704423,704425,704424 1392 NM_000756,AC090195,CH471068,V00571,X55962,X67661,AK075431,BC002599,BC011031,BT007453,CR592854,CR603754,CR617485,CR619891,CR625216,CR626513 NP_000747,EAW86897,CAA23834,AAH02599,AAH11031,AAP36121,P06850 Hs.75294 GDB:119804 CRF protein-coding 730851 CRHBP corticotropin releasing hormone binding protein Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. 1358530,1580863 7477348,1846945,18234674,17728670,17599466,16734917,16482088,16368564,15489334,15072543,14573312,12784189,12477932,9373149,9253360,8612563,8557170,8307998,8198617,8125298,7774945,2549150 1358530 1393 NM_001882,AC027342,CH471084,S60697,AK223457,AW451896,BC018038,CB959505,CR541666,CR592351,CR594674,CR606509,CR616423,CR622343,CR625877,X58022 NP_001873,EAW95785,EAW95786,AAD13916,BAD97177,AAH18038,CAG46467,CAA41086,P24387,Q53F32,Q6FHT5 Hs.115617 GDB:127438 CRF-BP|CRFBP protein-coding 734061 CRHR1 corticotropin releasing hormone receptor 1 The corticotropin-releasing hormone receptor binds to corticotropin-releasing hormone (MIM 122560), a potent mediator of endocrine, autonomic, behavioral, and immune responses to stress.[supplied by OMIM] 734822,734821,1580863,1358326,1626226,1581302 15784708,15670850,15498832,15450949,15365580,15293277,15252011,15206947,15203442,15192151,15142984,15128701,15100165,14764822,14724656,14684825,14657255,12784189,12519878,12504877,12477932,11861501,11606483,11425856,11416224,9757017,9661640,9423932,9253360,9178757,8612563,7916328,7811272,7590738,18239030,17959885,17667919,17597588,17532191,17463062,17376150,17330132,17318384,17258395,17170072,17047935,17015825,17010515,16959871,16906164,16815632,16734917,16721033,16550213,16415175,16412099,16297195,16113459,15992556,18250257,10598591,8243652,7692441,7585095,18452185,18384079 734822,734821,1358326,1626226,1581302 1394 NM_004382,AB065967,AC003662,AC106030,AF039523,AF488558,CH471233,AF180301,AF369652,AF374231,AY429529,AY457172,BC037967,BC096836,L23332,L23333,U16273,X72304 NP_004373,BAC06179,AAC69993,AAM55213,EAW93556,EAW93557,EAW93558,EAW93559,EAW93560,AAD52688,AAL46632,AAL39014,AAR19768,AAH96836,AAA35718,AAA35719,AAC50073,CAA51052,P34998,Q4QRJ1,Q8NFN9,Q8NG71,Q8WXR0,Q8WXR6 Hs.417628 GDB:235922 CRF-R|CRF1|CRFR1|CRH-R1h|CRHR|CRHR1f protein-coding 733138 CRHR2 corticotropin releasing hormone receptor 2 734823,1580863,1581302,1358326,734987 16972272,16884458,16734917,16721033,16691126,16326828,16175604,15652653,15489334,15331578,15146197,14764822,14724656,14592950,12853948,12784189,12690205,12477932,11857585,11416224,11329063,11226328,9717834,8536644,17959885,17532191,17463062,17170072,10822340,9423932,9199241,9070940,8612563,8243338 734823,1581302,1358326,734987 1395 NM_001883,AACC02000087,AB065699,AC004976,CH471073,AF011406,AF019381,AF361106,AF361107,AF361108,AY449734,BC096830,CN367943,U34587,Y10151,Y10153 NP_001874,EAL24448,BAC05922,AAC71653,AAC71654,EAW93962,EAW93963,EAW93964,EAW93965,AAB94503,AAB94562,AAR18078,AAH96830,AAA91320,CAA71235,Q13324 Hs.546246 GDB:5183270 CRFR2 corticotrophin releasing hormone receptor 2 protein-coding 1318641 CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like) Motor neurons are among the earliest neurons to appear after the commencement of cell patterning and the beginning of cell differentiation. Differentiation occurs in a ventral-to-dorsal gradient and is mediated, at least in part, by the concentration of ventrally expressed sonic hedgehog protein (SHH; MIM 600725). Dorsally expressed factors, such as members of the bone morphogenic protein (e.g., BMP4; MIM 112262) and transforming growth factor-beta (e.g., TGFB1; MIM 190180) families, can repress the induction of these neurons. CRIM1 may interact with growth factors implicated in motor neuron differentiation and survival (Kolle et al., 2000 [PubMed 10642437]).[supplied by OMIM] 1580863 10642437,15489334,15340161,12975309,12805376,12477932,12464430,11084657 51232 NM_016441,AC007378,AC007401,AC009414,AF168681,CH471053,AB209139,AF167706,AY358371,BC026227,BC111989,BC113371,BX648755 NP_057525,AAX88862,AAY14649,AAY14679,AAG37011,EAX00426,BAD92376,AAF34409,AAQ88737,AAI11990,AAI13372,Q4ZG85,Q53TH9,Q53TR0,Q9NZV1 Hs.699247 GDB:9958399 MGC138194|S52 cysteine-rich motor neuron 1 protein-coding 1601689 CRIM2 cysteine rich BMP regulator 2 (chordin-like) 15793581,14702039 375616 AK095464,AK122706,XM_001128429,XM_001715223,XM_001715714,AC025594,CH236950,CH471070,AK090684,AK090715 BAC04553,BAC85504,Q6ZWJ8,Q8N9A0,Q8NBE0,XP_001128429,XP_001715275,XP_001715766,EAW83694,BAC03505 Hs.647502,Hs.657980 KCP|KCP1 protein-coding 1348993 CRIP1 cysteine-rich protein 1 (intestinal) Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM] 1580863 9126610,15489334,14702039,12477932,9480758,8172605,7999070,1946385 1396 NM_001311,AL928654,AK092741,AK098290,BC002738,BQ128075,BT007181,BU500642,U09770,U58630 NP_001302,BAC03962,AAH02738,AAP35845,AAA64537,AAB61158,P50238,Q53XY7,Q8NAF8,ABM83884,ABM87204 Hs.70327 GDB:439373 CRHP|CRIP|CRP1|FLJ40971 protein-coding 1351980 CRIP2 cysteine-rich protein 2 1580863 12530967,8824798,16713569,15489334,14702039,12839623,12477932,10681529,9373149,8843343,8125298 1397 NM_001312,AL928654,CH471061,AK057837,AK091845,AK223251,BC000434,BC001931,BC034151,BC034386,BC128101,BT019911,CR590551,CR590577,CR592125,CR591408,CR602967,CR610735,CR612651,CR616587,CR617600,CR621315,CR624241,D42123,U36190 NP_001303,EAW81924,BAD96971,AAH00434,AAH01931,AAH34151,AAI28102,AAV38714,BAA07703,AAB03194,P52943,Q53FN1,ABM82308,ABM85485 Hs.534309 GDB:5348585 CRIP|CRP2|ESP1 protein-coding 1343897 CRIP3 cysteine-rich protein 3 15380775,15146197,14574404 401262 NM_206922,AL583834,CH471081,AI042209,AY555741,AY555742,AY555743,AY555744,CN282994 NP_996805,CAI14467,CAI14469,CAM20552,EAX04177,EAX04178,AAS66887,AAS66888,AAS66889,AAS66890,Q5T045,Q6Q6R5,AAI46405,AAI48847 Hs.653165 TLP|TLP-A|bA480N24.2 protein-coding 1602278 CRIPAK cysteine-rich PAK1 inhibitor CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM] 16278681,14702039,12477932 285464 NM_175918,AC118281,CH471131,AA160784,AK091762,AK096209,AK126919,AK128809,BC131709 NP_787114,EAW82583,BAC03741,BAC04725,BAC87616,AAI31710,Q6ZQR7,Q8N1N5 Hs.26410 FLJ34443|MGC150528 protein-coding 736668 CRIPT cysteine-rich PDZ-binding protein 16713569,16637659,16091592,12477932,12070168,11937501,11744724,11042152,10570482,9581762,16189514 9419 NM_014171,AC018682,CH471053,AF161488,AK291298,BC006979,BC006980,BC018653,BI857531 NP_054890,AAY14836,EAX00239,AAF29103,BAF83987,AAH06980,AAH18653,Q9P021 Hs.133998 HSPC139 protein-coding 1603324 CRISP1 cysteine-rich secretory protein 1 Fertilization consists of a sequence of specific cell-cell interactions culminating in the fusion of the sperm and egg plasma membranes. Recognition, binding, and fusion occur through the interaction of complementary molecules that are localized to specific domains of the sperm and egg plasma membranes. In the sperm, the postacrosomal region or equatorial segment is involved in sperm-egg plasma membrane fusion. The protein encoded by this gene is a member of the cysteine-rich secretory protein (CRISP) family. This protein is expressed in the epididymis, is secreted into the epididymal lumen, and binds to the postacrosomal region of the sperm head where it plays a role at fertilization in sperm-egg fusion through complementary sites localized on the egg surface. Two isoforms are encoded by transcript variants of this gene. 8838800,8543280,14574404,12477932,12206465,11750738,11566719,9685187,8665901 167 NM_170609,NM_001131,AL359458,CH471081,AK292497,BC028577,BC131707,D38451,S80310,X95237,X95238 NP_733758,NP_001122,CAC34980,EAX04350,BAF85186,BAA07483,AAB35899,CAA64524,CAA64525,P54107 Hs.109620 AEGL1|ARP|CRISP-1|HSCRISP1D|HSCRISP1G|HUMARP protein-coding 1315322 CRISP2 cysteine-rich secretory protein 2 1580863 8665901,16759931,15734896,15489334,14574404,12477932,9373149,8125298,2613236 7180 NM_003296,AL121950,CH471081,AK223337,AK292385,AY289796,AY292862,AY292863,AY773479,BC022011,BC107707,M25532,X95239 NP_003287,CAC10520,EAX04340,EAX04341,EAX04342,EAX04343,EAX04344,EAX04345,EAX04346,EAX04347,BAD97057,BAF85074,AAP41200,AAP44113,AAP44114,AAV48552,AAH22011,AAI07708,AAA61220,CAA64526,P16562,Q53FF2,Q5U8Z9,Q7Z7B2 Hs.2042 CRISP-2|GAPDL5|MGC111136|TPX1|TSP1 protein-coding 1352578 CRISP3 cysteine-rich secretory protein 3 1580863 16388501,15950934,15867000,15489334,15461460,14574404,12647793,12477932,11729383,10614782,9373149,8665901,8125298,12223513,8601434,12009203,12433721,17665393,17634540 10321 NM_006061,AL121950,AL121974,CH471081,AK223380,AK292786,BC069580,BC069602,BC101539,X94323,X95240 NP_006052,CAI20995,CAI20517,EAX04348,BAD97100,BAF85475,AAH69580,AAH69602,AAI01540,CAA63984,CAA64527,P54108,Q3MJ82,Q53FA9 Hs.404466 Aeg2|CRISP-3|CRS3|MGC126588|SGP28|dJ442L6.3 protein-coding 1605927 CRISPLD1 cysteine-rich secretory protein LCCL domain containing 1 15489334,12975309,12477932 83690 NM_031461,AC100782,AC102801,CH471068,AF142573,AF329197,AL834301,AY358564,BC020514 NP_113649,EAW87038,AAG43287,AAK16495,CAH56361,AAQ88927,AAH20514,Q9H336 Hs.436542 CRISP10|DKFZp762F133|LCRISP1 protein-coding 1605611 CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2 11256614,17616516,16381901,15489336,15489334,14702039,12975309,12477932,11230166,11076863 83716 NM_031476,AC025280,CH471114,CS000922,AK027395,AK056839,AL136861,AY358790,BC007689,BC018643,BC063012,CR591623,CR593410,CR596827,CR606278 NP_113664,EAW95468,EAW95469,CAI48002,BAB55081,CAB66795,AAQ89150,AAH07689,AAH63012,Q0JTZ7,Q9H0B8,CAL38015 Hs.513779 CRISP11|DKFZP434B044|LCRISP2|MGC74865 protein-coding 736380 CRK v-crk sarcoma virus CT10 oncogene homolog (avian) This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. 1580863 9472046,9788432,9819391,11278465,14657239,15886098,9069267,16284401,7806500,18165234,17848169,17825249,17764157,17428306,17399949,17308335,17081983,16849525,16628223,16440329,16413489,16344560,16339550,16275761,16189514,16158059,15831672,15700267,15592455,15522217,15345747,10748058,15326184,15263018,16713569,15062102,15051508,12970743,12878163,12807879,12738793,12730241,12628187,12621583,12477932,12475948,12454018,12446789,12384576,12370821,12198159,12154000,12138161,12054111,11956190,11911970,11870224,11839808,11466354,11432831,11380621,11369773,11316748,11314030,11287316,11278445,11146654,11097834,11071869,10970810,10964504,10899172,10854253,10753828,10733900,10720694,10648385,10571044,10464310,10419455,10362357,10329689,10208419,10092678,10092207,9891069,9845531,9837978,9722576,9674711,9642287,9614078,9546424,9497377,9480911,9461587,9395447,9366405,9092574,8879209,8875975,8810325,8662998,8662907,8657152,8621590,8621483,8378094,8194526,8035825,7855886,7797522,7657647,7529876,7512734,7509449,7509446,1690891,1630456,1379745,15492270,12615911,12819203,16729043,15696159,15735735,15719014,2173144 1398 NM_016823,NM_005206,AC032044,AC100748,CH471108,S65701,AK291060,AU125411,BC001718,BC008506,BC009837,BT007277,CR590790,CR600568,D10656 NP_058431,NP_005197,EAW90621,EAW90622,EAW90623,EAW90624,EAW90625,EAW90626,AAB28213,BAF83749,AAH01718,AAH08506,AAH09837,AAP35941,BAA01505,P46108,Q96GA9,ABM82073,ABM85253 Hs.638121 GDB:134689 CRKII avian sarcoma virus ct10 (v-crk) oncogene homolog protein-coding 1318357 CRKL v-crk sarcoma virus CT10 oncogene homolog (avian)-like v-CRK avian sarcoma virus CT10-homolog-like contains one SH2 domain and two SH3 domains. CRKL has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase and plays a role in fibroblast transformation by BCR-ABL. In addition, CRKL has oncogenic potential. 1580863 8798523,9788432,16284401,8361759,18059481,17764157,17604723,17161365,16955467,10608804,10648385,10477741,10092207,10022120,9891069,9872990,9858471,9845531,9837784,9820532,9660791,9614078,9590251,9546424,9498705,9461587,9405482,9374471,9344843,9178909,9162067,9092574,16305332,16289966,15592455,15522217,15489334,15461802,15345747,15167895,9067577,9053848,9020138,8943292,15062102,12697763,12665586,12522101,12504004,12477932,12446789,12393632,12244174,11489945,11466412,11466354,11463817,11443118,11389015,11334882,11313252,11279207,11167825,11097834,11071635,10945997,10763825,10753869,10753828,10720694,8621483,7493940,8810278,15494733,15143164,10907644,10194128,9747873,8978305,8083188,7926767,10419455,15696170 1399 AK000311,AK292909,BC026248,BC033281,BC043500,BC044621,BC053958,CR456423,CR593236,CR625781,X59656,NM_005207,AC002470,AL049941,CH471176 BAF85598,AAH43500,CAG30309,CAA42199,P46109,CAK54415,CAK54714,NP_005198,EAX02932,EAX02933,EAX02934 Hs.592205 GDB:226507 protein-coding 733880 CRKRS Cdc2-related kinase, arginine/serine-rich 11683387,17192257,17081983,16964243,16344560,15302935,15231748,12477932,12168954,10048485 51755 NM_016507,NM_015083,AC009283,CH471152,AB020711,AF227198,BC150265,BM557102,CB049262,DA026139 NP_057591,NP_055898,EAW60576,EAW60577,BAA74927,AAF36401,AAI50266,Q9NYV4 Hs.416108 CRK7|CRKR|KIAA0904 protein kinase for splicing component protein-coding 1322794 CRLF1 cytokine receptor-like factor 1 1600970,1580863 15034937,9686600,17436252,17436251,15489334,15340161,12975309,12509788,12477932,10966616,11294841 1600970 9244 NM_004750,AC003112,CH471106,AF059293,AF073515,AF178684,AY358291,BC044634 NP_004741,EAW84724,EAW84725,AAC28335,AAD39681,AAD54385,AAQ88658,AAH44634,O75462 Hs.114948 GDB:9955527 CISS|CISS1|CLF|CLF-1|NR6 protein-coding 1352132 CRLF2 cytokine receptor-like factor 2 Cytokine signals are mediated through specific receptor complexes, the components of which are mostly members of the type I cytokine receptor family. Type I cytokine receptors share conserved structural features in their extracellular domain. Receptor complexes are typically heterodimeric, consisting of alpha chains, which provide ligand specificity, and beta (or gamma) chains, which are required for the formation of high-affinity binding sites and signal transduction.[supplied by OMIM] 1580863 17513717,14702039,11891057,11474172,11418668,11237741,10872831,9373149,8125298 64109 NM_022148,NM_001012288,BX323853,BX908382,CH471074,AB052639,AF142570,AF338733,AK026800,AK223303,AY775789 NP_071431,NP_001012288,CAI95783,EAW98672,BAB60717,AAG27923,AAK60618,BAB15557,BAD97023,AAW66851,Q4V300,Q53FI3,Q5G7M1,Q9HC73 Hs.287729 GDB:11499114 CRL2|CRLF2Y|TSLPR protein-coding 1342810 CRLF3 cytokine receptor-like factor 3 17632510,12665801,12477932 51379 NM_015986,AC127024,CH471147,AA993312,AF046059,AF120151,BC023567,BU902521,DQ298450 NP_057070,EAW80297,AAD02422,AAD31758,AAH23567,ABC55264,Q8IUI8,ABM83202 Hs.370168 GDB:11505834 CREME9|CYTOR4|FRWS|MGC20661 protein-coding 1322279 CRLS1 cardiolipin synthase 1 16888643,16716149,16678169,16547353,16341674,15342556,12771218,12477932,11780052 54675 NM_019095,NM_001127458,AL035461,CH471133,AF241784,AK310368,AL832419,BC069010,BM763234,BP368984,CR607380,DQ386730 NP_061968,NP_001120930,CAB55278,EAX10399,EAX10400,EAX10401,EAX10402,AAG44472,CAH10649,AAH69010,ABD46888,Q6NTG3,Q9UJA2 Hs.224764 GDB:11505154 C20orf155|CLS1|GCD10|dJ967N21.6 protein-coding 731741 CRMP1 collapsin response mediator protein 1 This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. 1580863 8973361,15383276,16169070,17118363,16611631,15492864,15489334,15345747,14996858,14702039,12650609,12482610,12477932,11562390,10048489 1400 NM_001014809,NM_001313,AC105915,AF096140,AF096152,CH471131,AK094725,AK122754,AK127754,BC000252,BC007613,BC007898,BC009987,BG701124,BT006806,CR601364,CR605907,CR608807,CR610419,CR616884,CR619154,CR622220,D78012,DQ206871,U17278 NP_001014809,NP_001304,AAY40959,AAK55500,EAW82403,EAW82404,EAW82405,EAW82406,EAW82407,AAH00252,AAH07613,AAH07898,AAP35452,BAA11190,ABB22046,AAA93201,A0EJG6,Q14194,Q4W5F1,Q96I11,ABM83454,ABM86666 Hs.135270 GDB:5585714 DPYSL1|DRP-1|DRP1 protein-coding 733946 CRNKL1 crooked neck pre-mRNA splicing factor-like 1 (Drosophila) The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. This gene is similar in sequence to crn and encodes a protein which can localize to pre-mRNA splicing complexes in the nucleus. The encoded protein, which contains many tetratricopeptide repeats, is required for pre-mRNA splicing. 1580863 11342225,17296875,14759258,14702039,12084575,11991638,11780052 51340 NM_016652,AL035454,CH471133,AA255987,AB016840,AF111802,AF255443,AF318302,AF318303,AF318304,AF318305,AK022908,AK023246,AK023728,AK026342,AK292799,AL832435 NP_057736,CAI42112,CAI42113,EAX10206,EAX10207,EAX10208,EAX10209,EAX10210,EAX10211,EAX10212,BAC53587,AAL39004,AAF65571,AAK01924,AAK01925,AAK01926,AAK01927,BAB14303,BAB14485,BAB14659,BAF85488,CAH10656,Q5JY65,Q69YP1,Q8IXG0,Q9BZJ0,AAI56790 Hs.171342 GDB:11500716 CLF|CRN|HCRN|MSTP021|SYF3 crooked neck protein protein-coding 1323410 CRNN cornulin 11056050,2631556,11606197,14967811,2980212,15854041,12477932 49860 AF185276,AL135842,NM_016190,CH471121,AF077831,AK291301,BC030807 NP_057274,AAF00514,CAI23349,EAW53381,AAD55747,BAF83990,AAH30807,Q9UBG3 Hs.242057 GDB:11510652 C1orf10|PDRC1|SEP53 protein-coding 1313346 CROCC ciliary rootlet coiled-coil, rootletin 16203858,16767081,16710414,14654843,12800201,12477932,12427867,9455484 9696 NM_014675,AL049569,BX284668,CH471134,AB007914,AF527734,AK026910,AL834169,BC126911,BC126912,BK005505,DQ139275 NP_055490,EAW94814,EAW94815,EAW94816,EAW94817,BAA32290,AAP85633,AAI26912,AAI26913,DAA05505,ABA43896,Q5TZA0,Q5TZA2 Hs.309403 KIAA0445 protein-coding 1641962 CROCCL2 ciliary rootlet coiled-coil, rootletin-like 2 12477932,11572484 114819 XM_001130544,XM_001129099,XM_001714120,AL137802,AB067509,BC033082 XP_001130544,XP_001129099,XP_001714172,BAB67815,AAH33082,Q8IVE0 Hs.597881 KIAA0445|KIAA1922|dJ798A10.2 protein-coding 1641966 CROCCP ciliary rootlet coiled-coil, rootletin pseudogene 392547 XR_016673,XR_018732 Hs.647479 pseudo 1604358 CROP cisplatin resistance-associated overexpressed protein This gene encodes a cisplatin resistance-associated overexpressed protein (CROP). The N-terminal half of the CROP contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 17353931,10631324,10754390,17726058,16482509,15324660,14702039,12565863,12477932,11329013,9373149,8125298 51747 NM_006107,AC005921,CH471109,AF069250,AF147357,AK001925,AK023672,AK027723,AK225980,AK290540,AL050121,BC002925,BC047043,BC056409,BC061896,BG213545,CR603552,CR621017,DQ013876,NM_016424 NP_057508,NP_006098,EAW94583,EAW94584,EAW94585,EAW94586,EAW94587,AAC79807,BAA91981,BAF83229,AAH02925,AAH47043,AAH56409,AAY26238,O95232,Q6PKC2,Q86Y74,AAI56955 Hs.130293 GDB:9956931 LUC7A|OA48-18 protein-coding 732197 CROT carnitine O-octanoyltransferase Carnitine octanoyltransferase (EC 2.3.1.137) is a carnitine acyltransferase that catalyzes the reversible transfer of fatty acyl groups between CoA and carnitine. This provides a crucial step in the transport of medium- and long-chain acyl-CoA out of the mammalian peroxisome to the cytosol and mitochondria. See also CRAT (MIM 600184). Van der Leij et al. (2000) [PubMed 11001805] reviewed the function, structural features, and phylogenetics of human carnitine acyltransferase genes, including CROT.[supplied by OMIM] 1580863,1300048 10486279,15489334,12690205,12477932,11790793,11001805,9110174,8619474 54677 NM_021151,AC005045,CH236949,CH471091,AF052187,AF073770,AF168793,AK127901,BC006015,BC012483,BC019226,BC039004,BC051874 NP_066974,EAL24177,EAW76954,AAD41654,AAF03234,AAH39004,AAH51874,Q86V17,Q9UKG9 Hs.125039 GDB:11508596 COT protein-coding 736633 CRP C-reactive protein, pentraxin-related 1580259,1580260,1580273,1580863 17785206,10408362,14718574,18464913,18436879,18422436,18404970,18393253,18385179,18383516,18373721,18369665,18347271,18344622,18333373,18327405,17530289,17519779,17513778,17511977,17499233,17498578,17477815,17477779,17460724,17456635,17452737,17449922,17449131,17433639,17400881,17395501,17383146,17382928,17380191,17372148,17369452,17355643,17355554,17351284,17350021,17347578,17343862,17335903,17335789,17327459,17325687,17293598,17292342,17289011,17279354,17264952,17261875,17234298,17220790,17219082,17211240,17202380,17185152,17164456,17157301,17149558,17148079,17143564,17141244,17138933,17126343,17114654,17113059,17113035,17110595,17101857,17082472,17079491,17044846,17011566,17003778,16984505,16963054,16916777,16908949,16881737,16879213,16864904,16858645,16854501,16847147,16840032,16832152,16832147,16809564,16809555,16803998,16778366,16765355,16764962,16751408,16733231,16731635,16723442,16719793,16710414,16698114,16685271,16682383,16681424,16643876,16618976,16603696,16580524,16565153,16550411,16549465,16534007,16511556,16501036,16500582,16417933,18288276,18285696,18285551,18279706,18266777,18263601,18250134,18241613,18219765,18219371,18218989,18217154,18216376,18200582,18182444,18171282,18167554,18096828,18083122,18078625,18075240,18063701,18060926,18056120,18055714,18055473,18054331,18023360,18000615,17981284,17957146,17956875,17943468,17942113,17925606,17920229,17909163,17900590,17891599,17888441,17885262,17880812,17878753,17878721,17873311,17852826,17852082,17851695,17851127,17845537,17827818,17806085,17785926,17765290,17722225,17714718,17714716,17706955,17702963,17702862,17700210,17697822,17693973,17676666,17673235,17653654,17652155,17652082,17650829,17641153,17635239,17623828,17623721,17615382,17613401,17600233,17598370,17596285,17588586,17581635,17575367,17573060,17561469,17531242,16409458,16405882,16352308,16344720,16306468,16266402,16257408,16221209,16213874,16189249,16170833,16153429,16151032,16131811,16123325,16109328,16087807,16087790,16061741,16051899,16026589,16005367,16005364,15997206,15996056,15993896,15955391,15955385,15950309,15920074,15920065,15920036,15919817,15897982,15894827,15894122,15887860,15878871,15867284,15866055,15860734,15859024,15853546,15808312,15798966,15798948,15797975,15795363,15778807,15777561,15766555,15746456,15735209,15692104,15653107,15591095,15585215,15585211,15585208,15579759,15565375,15517131,15489334,15472120,15469865,15456743,15448085,15380464,15358216,15337754,15308783,15306744,15304023,15286457,15277326,15271790,15136507,15078802,15047644,15044210,14983228,14967837,14967730,14744975,14634117,14592848,14508181,14506615,14500938,12975260,12934049,12892901,12869354,12850811,12842840,12835218,12835213,12821545,12819031,15585218,12783932,12716818,12701054,12663465,12654086,12637157,12618085,12616974,12594844,12563060,12552583,12529491,12477932,12471137,12460042,12426218,12426217,12393563,12390313,12351483,12244213,12234944,12218140,12213988,12198121,12186793,12151853,12104096,12102655,12055255,12037301,12033985,11991668,11964845,11947917,11857055,11801683,11739301,10675363,10490997,10368284,8613143,8599761,8482924,8144569,7881902,6857266,6693419,6685157,6427230,3840479,3759147,2997165,2477447,1989977,1477104,762075,403526,265538,11027634 1580259,1580260,1580273 1401 AF442818,AF449713,AL445528,CH471121,M11725,M11880,AI609949,AK289443,BC020766,BC070257,BC125135,BG533281,BG618967,NM_000567,CR598604,K00518,M35163,X56214,X56692 NP_000558,AAL48218,AAL40835,CAH73655,CAH73656,EAW52777,EAW52778,EAW52779,EAW52780,AAA52075,AAB59526,BAF82132,AAH20766,AAH70257,AAI25136,AAA52074,AAA52076,CAA39671,CAA40020,P02741,Q5VVP7 Hs.76452,Hs.709456 GDB:119071 MGC149895|MGC88244|PTX1 c-reactive protein, petaxin related protein-coding 1352950 CRPP1 C-reactive protein pseudogene 1 3034876 171422 NG_001016,AF442818,AL445528,M16109 GDB:119072 pseudo 1347855 CRS craniosynostosis 1403 GDB:119073 1343255 CRSP2P cofactor required for Sp1 transcriptional activation, subunit 2, pseudogene 10028 GDB:9954902 1351263 CRSP4 cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa 10689 GDB:9958144 1347619 CRSP5 cofactor required for Sp1 transcriptional activation, subunit 5, 85kDa 10688 GDB:9958143 737274 CRTAC1 cartilage acidic protein 1 17074475,15489334,14702039,12477932,11139377 55118 AK001182,AK057190,AK292084,BC034245,NM_018058,AL139239,AL358938,CH471066,AJ276171,AJ279016,AJ421515 CAD13394,BAA91540,BAF84773,AAH34245,Q5T4F6,Q5T4F8,Q5TAB2,Q9NQ79,NP_060528,CAI12582,CAI12583,CAI12584,CAI12585,CAI14275,CAI14277,EAW49890,EAW49891,EAW49892,CAB98267,CAB98268,CAB98269,CAC08451 Hs.500736 GDB:11500975 ASPIC1|CEP-68|FLJ10320 w307 protein protein-coding 1606263 CRTAM cytotoxic and regulatory T cell molecule 15811952,16300832,15781451,12477932,10811014 56253 NM_019604,AP004318,CH471065,AB209830,AF001622,BC070266,BX118379,CA309993,CK004240 NP_062550,EAW67532,BAD93067,AAC80267,AAH70266,O95727 Hs.159523 protein-coding 1320245 CRTAP cartilage associated protein The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. 1580863 17055431,16344560,15489334,14702039,12477932,10702664,10429950,9217321 10491 NM_006371,AC112211,AC123900,CH471055,AJ006470,AK001634,AK027235,AK075401,AK091772,AK092990,AK097650,AK126433,AL110145,BC008745,BX648233,CR594104,CR597717,CR613224,CR618116,CR622212,CR625365,DA335701 NP_006362,EAW64448,EAW64449,EAW64450,CAA07054,BAC03743,AAH08745,O75718,Q8NB01,ABM84147,ABM87549 Hs.517888 GDB:9957122 CASP|LEPREL3 protein-coding 1320323 CRTC1 CREB regulated transcription coactivator 1 14536081,14506290,18235224,18206539,18181164,17565599,17437281,17334997,16980408,16818685,16817901,16809310,16652146,16344560,15729701,15589160,15489334,15324660,15057824,14720503,14702039,12539049,12477932,9734811,15454081,8889548 23373 NM_001098482,NM_015321,AC003107,AC004400,AC004476,AC006123,CH471106,AB014516,AK024089,AU118537,AY040323,AY360171,BC017075,BC023614,BC028050,BM680095,CR602840,CR611462,DB355148 NP_001091952,NP_056136,AAC97072,EAW84730,EAW84731,EAW84732,EAW84733,BAA31591,BAB14822,AAK93832,AAQ98856,AAH17075,AAH23614,AAH28050,Q6UUV9,ABM84236,ABM85154 Hs.371096 GDB:11508824 FLJ14027|KIAA0616|MECT1|TORC1|WAMTP1 protein-coding 1603540 CRTC2 CREB regulated transcription coactivator 2 17950019,17548807,17476304,17043309,16980408,16809310,16306228,15454081,15324660,14702039,14536081,14506290,9373149,8125298,17353931,12477932 200186 NM_181715,AL358472,AF289574,AK096382,AK223559,AY360172,AY726597,BC028886,BC033304,BC053562,CR624271 NP_859066,CAI14017,CAI14018,AAL55758,BAD97279,AAQ98857,AAH28886,AAH53562,Q53ET0,Q5T4K5,Q8N332,Q8WZ18 Hs.406392 RP11-422P24.6|TORC2 protein-coding 1604314 CRTC3 CREB regulated transcription coactivator 3 18050304,17644518,16980408,15466468,15324660,14536081,14506290,12477932,9373149,8125298 64784 NM_022769,NM_001042574,AC021422,AC103739,AK025521,AK074170,AK090443,AK225300,AL360259,AY360173,BC019060,BC074730,BC074731,BQ945777 NP_073606,NP_001036039,BAB15160,BAB84996,BAC03424,AAQ98858,AAH74730,AAH74731,Q6UUV7,Q8TEF4 Hs.567572 FLJ21868|TORC3 protein-coding 1345664 CRTL2 cartilage linking protein 2 1405 GDB:127114 733182 CRX cone-rod homeobox The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. 734827,1600973,1580863 9390563,17347810,17320181,17286855,16189514,15689355,15531334,15489334,15143176,15001570,12477932,12408971,12359607,12208271,11971869,11910559,11748859,11580893,11468275,10887186,10866677,10708567,10192380,9931337,9792858,9537410,9427255,8889548,8162077,9390516 734827,1600973 1406 NM_000554,AC008745,AF024711,AF335246,CH471126,AF335247,AF335249,AF335593,AF335594,AF335595,AF442496,AL711350,BC009045,BC016664,BC053672,BT007364,BU736672,DQ426868,EF432655 NP_000545,AAB88418,EAW57515,AAH16664,AAH53672,AAP36028,ABD90533,ABO31091,O43186,Q0QD45,ABM84490,ABM85165 Hs.617342,Hs.633434,Hs.639114 GDB:333932 CORD2|CRD|LCA7|OTX3 cone-rod homeobox protein protein-coding 1353919 CRY1 cryptochrome 1 (photolyase-like) 1580863 9801304,8909283,10217146,18228528,18195715,17376600,16628007,16189514,15722957,15489334,14507900,12846824,12782655,12477932,11875063,11533252,10531061,10428031,8921389,8600518 1407 NM_004075,AC007541,AC078929,CH471054,AK098615,AK125915,AK290552,BC017466,BC030519,CR592420,D83702,D84657 NP_004066,EAW97795,EAW97796,EAW97797,BAC05354,BAF83241,AAH30519,BAA12068,BAA12710,Q16526,Q8N7D9 Hs.151573 GDB:4073036 PHLL1 protein-coding 732507 CRY2 cryptochrome 2 (photolyase-like) 1580863,734990 18228528,17984998,17440215,16628007,16528748,15751956,15489334,14750904,14702039,14701732,14507900,12782655,12627958,12477932,10531061,10428031,10217146,9801304,9734811,9383998,8909283,15798197 734990 1408 NM_021117,NM_001127457,AC068385,CH471064,EF015899,AB014558,AK001194,AK291260,BC035161,BC041814,BG260501,CR621757,DC306642,DC330290 NP_066940,NP_001120929,EAW68029,EAW68030,ABM64210,BAA31633,BAF83949,AAH35161,AAH41814,Q49AN0 Hs.532491 GDB:5218408 FLJ10332|HCRY2|KIAA0658|PHLL2 protein-coding 735272 CRYAA crystallin, alpha A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). 1600984,1600993,1600994,1580863 14752512,10217480,14512969,18199971,18095658,17973972,17937925,17900621,17724170,17662998,17296897,17258947,17149363,16760894,16751613,16735993,16584192,16531622,16453125,16012168,15817465,15701626,15489334,15388868,15382236,15284238,15004872,14532291,12501218,12477932,12369832,12095619,12060738,11756414,11700327,11672428,11377425,11123904,11024455,11006246,10930324,10830953,9655350,9618718,9543632,9467006,9346914,8999933,8943244,8910261,8759518,8587135,8175657,7835394,3758227,3610158,2918909,1730617,1525182,817940 1600993,1600994 1409 AAB33370 NM_000394,AF026952,AP001631,AP001748,CH471079,M35628,M35629,BC069528,BC113598,CR407691,L25781,U05569,U66584,X14789 NP_000385,AAB99912,BAA95535,EAX09497,EAX09498,AAA52106,AAA52105,AAH69528,AAI13599,CAG28619,AAC37570,AAA97523,AAC50900,CAA32891,AAB33370,P02489,Q13684,Q53X53,Q71V83 Hs.184085 GDB:119074 CRYA1|HSPB4 protein-coding 737518 CRYAB crystallin, alpha B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. 1580863 14752512,9731540,15609325,18343407,18334940,18164413,18095658,18063749,18005258,17916631,17723105,17693254,17662998,17655279,17590381,17568699,17487982,17387692,17260942,17258947,17105203,17081987,17075130,17056255,15388868,15382236,15339919,15308659,15284238,15236975,15188402,15168732,15117944,15004872,14743435,14681890,14676215,14610128,14532291,14523008,12965253,12940843,12837281,12646227,12601044,12600716,12501218,12477932,12468532,12140279,12095619,12060738,11926998,11771659,11700327,11577372,11377425,11369851,11341940,11256614,11158243,17046756,17022999,17010329,16893188,16877416,16817325,16764341,16760894,16751613,16581320,16505043,16483541,16480679,16395408,16381901,16368544,16274233,16225851,16142923,16053447,15952936,15817465,15653686,15639800,15511225,15489336,15489334,11076863,11024455,10995559,10930324,10751411,10508479,10217480,9110174,8999933,8639509,8619474,8431633,8175657,8142454,7498159,2591958,2539261,2387586,2294148,1560006,1525182,1407707,838078,16189514 1410 NM_001885,AP000907,CH471065,EF444955,M28638,AF007162,BC007008,BT006770,M24906,S45630 NP_001876,EAW67162,EAW67163,EAW67164,EAW67165,EAW67166,EAW67167,ACA05949,AAA52104,AAC19161,AAH07008,AAP35416,AAA60267,AAB23453,P02511,Q0JUA6,Q9UC37,Q9UC38,Q9UC40,CAL37427,CAL37905,ABM83443,ABM86655 Hs.408767 GDB:119805 CRYA2|CTPP2|HSPB5 protein-coding 736650 CRYBA1 crystallin, beta A1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. 1601004,1601011,1580863 8999933,18162101,17653060,17616172,15576560,15489334,15111599,15016766,14598164,12477932,12060738,11424921,10585769,10525151,9788845,8961355,8889548,8623885,3770741,3745196,2055112 1601004,1601011 1411 NM_005208,AC005412,CH471159,M14301,M14302,M14303,M14306,BC069537,BC113693,BU735083,U59058 NP_005199,EAW51185,AAA52107,AAH69537,AAI13694,AAC50971,P05813 Hs.46275 GDB:119806 CRYB1 protein-coding 1343426 CRYBA2 crystallin, beta A2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. 634551,1580863 16189514,15489334,12907171,12477932,7490092,6835373 634551 1412 NM_057093,NM_057094,NM_005209,AC097468,CH471063,X86395,X86396,AF166331,BC006285,BF726935,BT007447 NP_476434,NP_476435,NP_005200,AAX88918,EAW70665,EAW70666,EAW70667,CAA60147,CAA60148,AAD45388,AAH06285,AAP36115,P53672,Q4ZFX0 Hs.415790 GDB:363578 protein-coding 733543 CRYBA4 crystallin, beta A4 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. 1580863 8999933,16960806,15489334,15461802,12477932,12360425,12060738,10591208,8889548,8420967,7504514,1424806 1413 NM_001886,CH471095,S67583,Z95115,BC069404,BC096171,BC096172,BC096173,BC096174,BF726612,BM667295,CR456424,U59057 NP_001877,EAW59731,AAD13994,CAI17980,AAH69404,AAH96171,AAH96172,AAH96173,AAH96174,CAG30310,AAC50970,P53673,CAK54416,CAK54715 Hs.57690 GDB:127890 protein-coding 731502 CRYBB1 crystallin, beta B1 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. 728217,1580863 8626774,18162101,17531125,17460281,17448466,17327390,16331646,16110300,15667225,15489334,15461802,14978307,14573871,12941953,12506076,12477932,12360425,12060738,10591208,9702176,8575764 728217 1414 NM_001887,CH471095,X86398,Z95115,BC036790,CR456425,U35340 NP_001878,EAW59730,CAB08268,AAH36790,CAG30311,AAC50383,P53674,CAK54417,CAK54716,CAA60150 Hs.37135 GDB:361644 CATCN3 protein-coding 734352 CRYBB2 crystallin, beta B2 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. 734832,1601011,1580863 9158139,18162101,17937660,17653036,17234267,16519509,16319073,16179907,15489334,15461802,15452067,12535638,12477932,12457849,12060738,11700327,11424921,10930324,10737800,10634616,10591208,8999933,8889548,8812489,8443605,8224918,8175657,3436525,2055112,1521468 734832,1601011 1415 NM_000496,CH471095,U72400,U72404,Z99916,BC069535,BF847403,BM667912,CR456426,L10035 NP_000487,EAW59688,AAB39700,CAB17043,AAH69535,CAG30312,AAA16864,P43320,CAK54418,CAK54717 Hs.373074 GDB:119075 CCA2|CRYB2|CRYB2A|D22S665 protein-coding 1345141 CRYBB2P1 crystallin, beta B2 pseudogene 1 12477932,8812489,3436525,2055112 1416 NG_000851,AL008721,M18441,BC037884,BC047380 AAH37884,AAH47380,Q4G0T4 Hs.571835 GDB:127889 CRYB2B|MGC51252 pseudo 733594 CRYBB3 crystallin, beta B3 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. 1580863 8999933,18162101,15914629,15489334,15461802,12477932,12060738,10591208,9183670,8812489,2499686 1417 NM_004076,CH471095,X15144,X15145,X15146,Z99916,BC069479,BC102021,BC102022,BC107482,CR456427,U71216 NP_004067,EAW59686,EAW59687,CAA33242,CAB17042,AAH69479,AAI02022,AAI02023,AAI07483,CAG30313,AAC50972,P26998,Q3T1B7,Q6ISK6,CAK54419,CAK54718 Hs.533022 GDB:119807 CATCN2|CRYB3|MGC125772|MGC125773|MGC125774 protein-coding 1351411 CRYGA crystallin, gamma A Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. 1580863 3670288,12507494,12477932,12011157,10627816,9426193,8889548,3011643,2991114,2258929 1418 M17315,M17316,BC114456,BM698524,EF426311,NM_014617,AC016697,CH471063 EAW70435,AAA52108,AAI14457,ABO14696,P11844,Q24JT5,NP_055432,AAX93220 Hs.122566 GDB:119076 CRY-g-A|CRYG1|CRYG5 protein-coding 1347974 CRYGB crystallin, gamma B Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. 1580863 16368877,15815621,15489334,14517968,12876325,12676897,12507494,12477932,12060738,12011157,10627816,10521291,9426193,8889548,4065573,3670288,3011643,2777080,2258929,1923840 1419 AC016697,NM_005210,CH471063,M11970,M11971,M19364,BC074944,BC074945,BC117384,BC117388,BM666147,BY794984 NP_005201,AAX93219,EAW70434,AAA52113,AAA52109,AAH74944,AAH74945,AAI17385,AAI17389,P07316 Hs.248102 GDB:119077 CRYG2 protein-coding 736578 CRYGC crystallin, gamma C Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. 1601015,1580863 17679936,17327821,15489334,15322286,12876325,12507494,12477932,12457849,12060738,12011157,11904153,11700327,10914683,10627816,10521291,9426193,8999933,8943244,8889548,4065573,4033658,3670288,3025877,3011643,2777080,2258929,1923840 1601015 1420 NM_020989,AC093698,CH471063,K03003,M11972,M11973,M19364,BC074954,BC074955,K03004,BU737104,U66582 NP_066269,AAY24042,EAW70433,AAA52114,AAA52110,AAH74954,AAH74955,AAA52111,AAC50899,P07315,Q53R50 Hs.72910 GDB:119078 CCL|CRYG3 protein-coding 735833 CRYGD crystallin, gamma D Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. 1601016,1580863 9927684,18334953,18253099,17923670,17905830,17724170,17564961,17217786,16981715,16891314,16288201,16046626,16030500,15815621,15722442,15709761,15489334,15451671,15064679,15041957,12876325,12729747,12676897,12507494,12477932,12107413,12060738,12011157,11371638,10915766,10688888,10627816,10521291,9426193,8999933,8943244,8733140,4033658,3670288,3025877,3011643,2258929 1601016 1421 NM_006891,AC093698,CH471063,K03005,K03006,BC117338,BC117340,CD674533,EL946552,U66583 NP_008822,AAY24041,EAW70432,AAA52112,AAI17339,AAI17341,AAB38686,P07320 Hs.546247 GDB:119079 CACA|CCA3|CCP|CRYG4|cry-g-D protein-coding 1346335 CRYGEP1 crystallin, gamma E pseudogene 1 9847074,8004095,4033658,3670288 200575 NG_002762,AC093698,K03007,K03008,S72943 GDB:119808 CCL|CRYG5|D2S1472|G2 pseudo 1344047 CRYGFP crystallin, gamma F pseudogene 9847074,4033658 1423 NG_001107,AC013409,K03009,K03010 GDB:119809 CRYG6|CRYGFP1|p1 pseudo 1351190 CRYGGP1 crystallin, gamma G pseudogene 1 2258929 1424 NG_001108,AC064868,X52628 GDB:136340 pseudo 1318382 CRYGN crystallin, gamma N The beta and gamma crystallins are evolutionarily related families of proteins that are localized to the refractive structure of the eye lens. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. 15853812,12690205,12477932 155051 AF445455,BC043605,BC100878,BC100879,BC100880,BC100881,NM_144727,AACC02000108,CH471173 AAL40968,AAI00879,AAI00880,AAI00881,AAI00882,Q8WXF5,NP_653328,EAL24514,EAW53992,EAW53993 Hs.647104 MGC119042|MGC119043|MGC119044|MGC119045 protein-coding 1320030 CRYGS crystallin, gamma S Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. 1580863 17905830,14763903,16141006,15489334,12529503,12477932,12475213,12093281,12060738,11706012,10837510,10627816,9426193,8999933,7849599,7733876,3670288,2258929,1445197 1427 NM_017541,AC068631,AF242197,AF242198,CH471052,AF161703,AL133079,BC069478,BC070241,L36869 NP_060011,AAF72490,EAW78194,EAW78195,EAW78196,AAD45901,CAB61399,AAH69478,AAH70241,AAA92870,P22914,Q9UFA7 Hs.376209 GDB:119810 CRYG8 protein-coding 735568 CRYL1 crystallin, lambda 1 The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. 1580863 15809331,15057823,14702039,12527201,12477932,3170592 51084 NM_015974,AL161715,AL590096,AL606822,CH471075,AF077049,AF087898,AF160216,AK024041,BC008562,BC071810,BC119660,BC119661,BQ006686,CR591361,CR592394,CR617362,CR623496 NP_057058,CAI14388,CAI14389,EAX08260,EAX08261,EAX08262,EAX08263,EAX08264,EAX08265,AAD27782,AAP97197,AAF67017,AAH08562,AAH71810,AAI19661,AAI19662,EAX08259,Q0VDI1,Q9P0G7,Q9Y2S2 Hs.370703 GDB:11505836 GDH|MGC149525|MGC149526|lambda-CRY crystallin, lamda 1 protein-coding 734218 CRYM crystallin, mu Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Multiple alternatively spliced transcript variants have been found for this gene. 734836,1580863 1384048,17451686,15489334,12477932,12471561,10493829,9328354,9285773,8895318,1478656 734836 1428 NM_001014444,NM_001888,AF001550,AF039397,CH471228,AK290852,BC008398,BC018061,BG033512,BI860684,BX648477,L02950,U85772 NP_001014444,NP_001879,AAB67600,AAB94938,EAW66862,EAW66863,BAF83541,AAH18061,CAI46030,AAC16914,AAB81564,Q14894,Q5HYB7,ABM83303,ABM86517 Hs.924 GDB:136047 DFNA40|THBP protein-coding 1323202 CRYZ crystallin, zeta (quinone reductase) Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. One pseudogene is known to exist. 1580863 7835889,15489334,14702039,12714703,12477932,11672428,11295131,9698072,9373149,8466529,8125298,8088825 1429 BC070058,NM_001889,AC091611,AC135803,CH471059,L31521,AB209714,AK123469,AK128794,AK223150,AK223201,BC039578,BX649061,CR594192,CR595439,CR614503,CR620400,L13278,BX647883 NP_001880,EAX06409,EAX06410,EAX06411,EAX06412,AAK40311,BAD92951,BAD96870,BAD96921,AAH39578,CAI46072,AAA36536,Q08257,Q5HYE7,AAH70058 Hs.83114 GDB:139194 DKFZp779E0834|FLJ41475 protein-coding 1320993 CRYZL1 crystallin, zeta (quinone reductase)-like 1 This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. 1580863 10191096,16780588,17497241,16344560,15489334,14702039,12477932,10986039,10830953 9946 NM_145858,AP000304,AP000305,AP000306,AP000307,AP000308,AF029689,AF086550,AF098798,AK001293,AK057604,AK058071,BC013155,BC022827,BC032816,BC033023,BC039589,BI599245,BX647276,BX648547,CA426424,DB037192 NP_665857,AAD22381,AAD20219,BAA91605,AAH13155,AAH22827,AAH33023,O95825,Q8TBV9,ABM81935,ABM85116 Hs.352671 GDB:9958502 4P11|QOH-1 protein-coding 1345953 CRYZP1 crystallin, zeta (quinone reductase) pseudogene 1 8088825,7835889 1430 NG_001109,L31527 GDB:371752 pseudo 1606843 CS citrate synthase The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. 16189514,9543345,17298551,16751257,16303743,15714131,15711981,15489334,15242332,14760703,14743216,14702039,12549038,12531911,12477932,12198136,11377425,9809442,9792662,7285903,318158 1431 NM_004077,NM_198324,AC073896,CH471054,CQ782923,AF047042,AF053631,AK095856,AK098177,AL713477,BC000105,AF147410,BC010106,AK074956,BC072016,BI258893,BI553413,BT007414,BX640838,CB990178,CR596424,CR598281,CR614767,CR616817,CR620666,CR622159,DQ403132 NP_004068,NP_938083,EAW96923,EAW96924,CAF86150,AAC25560,AAQ13428,BAC11314,AAH00105,AAH10106,AAH72016,AAP36082,CAE45911,ABD77265,O75390,Q0QEL2 Hs.430606,Hs.665949 GDB:119082 protein-coding 732204 CSAD cysteine sulfinic acid decarboxylase 1580863,1300048 15489334,14702039,12477932,11997111 51380 BC052249,BC098278,BC098342,BC099717,BC105918,AC073573,CH471054,AB044561,AF116545,AF116546,AF116547,AF116548,AK122681,AK289659,BC018042,BC047466,NM_015989 AAH52249,AAH98278,AAH98342,AAH99717,AAI05919,Q86V02,Q96JQ3,Q9Y600,Q9Y602,NP_057073,EAW96666,EAW96667,EAW96668,EAW96669,EAW96670,EAW96671,EAW96672,BAB60953,AAD32543,AAD32544,AAD32545,AAD32546,BAF82348 Hs.279815 GDB:11510351 CSD|MGC119354|MGC119355|MGC119357|PCAP cysteine-sulfinate decarboxylase protein-coding 1353338 CSAG1 chondrosarcoma associated gene 1 This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. 12477932,12039054 158511 NM_153478,NM_001102576,AF002997,CH471169,AF195880,AF268418,AF268419,BC059947,BM810082 NP_705611,NP_001096046,EAW99433,EAW99434,EAW99435,EAW99436,AAH59947,Q6PB30 Hs.423718 CSAGE protein-coding 1349892 CSAG2 CSAG family, member 2 1580863 12477932,12039054,16685391,11205240,15120907,10095106,16888034 9598 NM_004909,AF002997,AF080246,AF268420,AF268421,BC119734,BC119735 NP_004900,AAC29487,AAI19735,AAI19736,Q0VDC3,Q9Y5P2 Hs.522810 MGC149851|MGC149852|TRAG3 protein-coding 1603470 CSAG3 CSAG family, member 3 12477932,12039054,11181995 389903 NM_203311,AF002997,CH471169,AF080246,AF136715,AF268420,AF268421,BC007228 NP_976056,EAW99427,EAW99428,AAC29487,AAD37859,AAH07228,Q96IU8 Hs.522810,Hs.546591 CSAG3A|MGC17065 protein-coding 1625852 CSAG3B CSAG family, member 3B 11181995 728461 XM_001126956,XM_001126964,NM_001080848,AF002997,AF136715,BC007228 XP_001126956,XP_001126964,NP_001074317,AAD37859,AAH07228 Hs.546591 CSAG2 protein-coding 733766 CSDA cold shock domain protein A 1580863 8710501,2977358,7628487,17081983,16508013,16094384,15592429,15489334,15302935,14728692,12477932,12239625,9442396,8871564,16189514,14743216,11799066 8531 NM_003651,AC021049,CH471094,L29064,AB209896,BC008801,BC009744,BC015564,BC015913,BC021926,BC150580,CR624602,M24069,X72712,X95325 NP_003642,EAW96201,EAW96202,EAW96203,EAW96204,EAW96205,AAA79243,BAD93133,AAH08801,AAH09744,AAH15564,AAH15913,AAH21926,AAA35749,CAA51261,CAA64631,P16989,Q59EB5,Q96B76,Q96GD7,ABM83612,ABM86856 Hs.221889 GDB:9865772 CSDA1|DBPA|ZONAB protein-coding 1346098 CSDAP1 cold shock domain protein A pseudogene 1 10343102 10697 NG_001228,Y17508 GDB:9958154 pseudo 1603657 CSDC2 cold shock domain containing C2, RNA binding 12801884,16344560,15489334,15461802,12767259,12477932,10923677,10591208,10446180,9110174,8619474,8573167 27254 NM_014460,AL023553,CH471095,AB027011,AL834417,BC067113,CR456457,CR603349,CR606962,CR615903,CR625281,DB168570,U79280 NP_055275,CAB46024,EAW60442,BAA84704,CAD39079,AAH67113,CAG30343,AAB50218,Q99779,Q9Y534,CAK54438,CAK54737 Hs.310893 PIPPIN|dJ347H13.2 protein-coding 1607084 CSDE1 cold shock domain containing E1, RNA-binding 2204029,17947529,17159903,17081983,16710414,16381901,16356927,15928332,15489336,15489334,15314026,14702039,12667457,12477932,11076863,11051545,10049359,10048485,9110174,8619474,8439573,2052355 7812 BC032446,BX479150,BX648561,BX648780,CR593292,CR594529,CR604787,CR624546,CR749378,CR749431,NM_007158,NM_001007553,NG_007572,AL096773,CH471122,AB020692,AF070542,AF077054,AK022516,AK022528,AK130392,AK290146,AL050150,AL110192,AY049788,BC017662,BC021692 AAH32446,CAH18231,CAH18269,O75534,Q0JSL4,Q0JSM2,Q0JT08,Q0JTW8,Q0JUS5,Q68DF1,Q8WU01,Q96L66,Q9GZV0,Q9UG12,Q9UG93,CAL37736,CAL38044,CAL38356,CAL38492,CAL38500,NP_009089,NP_001007554,CAI18825,CAI18826,EAW56612,EAW56613,EAW56614,EAW56615,EAW56616,EAW56617,EAW56618,EAW56619,BAA74908,AAC28634,AAD27787,BAB14073,BAB14080,BAF82835,CAB43294,CAB53670,AAL15445,AAH21692 Hs.708018 D1S155E|DKFZp779B0247|DKFZp779J1455|FLJ26882|RP5-1000E10.3|UNR protein-coding 1353910 CSE choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) 8808284 1433 GDB:596182 1316788 CSE1L CSE1 chromosome segregation 1-like (yeast) Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. 9323134,17719542,7479798,18439902,18377724,16786158,15489334,15324660,14718574,12972425,12510150,12477932,12061792,11927559,11780052,11724300,11703094,11295109,10523667,10331944,9786944,9373149,8963895,8639641,8125298,14743216 1434 NM_001316,AF053645,AF053651,AL121903,AL133174,CH471077,AF053640,AF053641,AF053642,AK098618,AK225610,BC108309,BC109313,BC109314,BG392946,CR591648,CR612647,EF426455,U33286 NP_001307,AAC35297,CAI42818,EAW75676,EAW75677,AAC35007,AAC35008,AAC35009,AAI08310,AAI09314,AAI09315,ABO15009,AAC50367,P55060 Hs.90073 GDB:696213 CAS|CSE1|MGC117283|MGC130036|MGC130037|XPO2 protein-coding 731066 CSF1 colony stimulating factor 1 (macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Four transcript variants encoding three different isoforms have been found for this gene. 628338,734837 2460758,1791839,18219369,17967422,17922812,17918257,17916748,17589498,17532041,17516513,17443671,17431224,17420255,17368603,17355643,17243911,17192722,17108334,16951369,16859503,16844084,16673212,16407111,16344560,16320327,16318581,16267391,16204228,15944252,15919699,15866728,15820145,15728521,15640942,15624698,15576295,15494511,15489334,15358207,15261158,15256272,15116247,15001836,14654075,14634568,14605992,12929928,12928417,12894871,12890905,12865350,12790839,12749918,12684699,12548211,12501178,12477932,12456016,12411027,12393446,12372416,12032835,11843897,11792569,11739737,11387343,11369790,11297560,11248655,10857771,9632647,9147389,9131001,8981357,8804363,8422357,8355686,8336080,8262907,8086034,7696959,3500041,3498652,3493529,3264877,3259875,3039346,2996129,2660794,2408759,2145044,1733926,1571567,1540160,1531650,1455231,15780937 628338,734837 1435 NM_000757,NM_172211,NM_172212,NM_172210,AL450468,CH471122,CS166282,CS166284,CS166286,M11038,M11295,M11296,X06106,AK291660,BC021117,DA414355,DB287787,M27087,M37435,M64592,M76453,U22386,X05825 NP_000748,NP_757350,NP_757351,NP_757349,CAH71146,CAH71147,CAH71148,EAW56416,EAW56417,EAW56418,EAW56419,EAW56420,EAW56421,CAJ32234,CAJ32235,CAJ32236,AAB59527,CAA29479,BAF84349,AAH21117,AAA59573,AAA52117,AAA59572,AAA52120,AAA64849,CAA29265,P09603,Q5VVF2,Q5VVF3,Q5VVF4 Hs.591402 GDB:119811 MCSF|MGC31930 protein-coding 737004 CSF1R colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. 1580863 8981357,2421165,18294963,17981568,17960171,17893228,17675037,17420255,17360941,17292918,16823860,16708222,16648572,16631474,16335952,16170366,16034075,15626739,15297464,15144560,15117969,14738146,14654075,12773394,12529666,12485477,12477932,12381783,12372416,12133942,12130514,12031912,11891846,11852791,11847211,11297560,10499626,10022833,9624537,9616179,9380408,9191055,9178909,9027509,8947469,8922060,8786123,8355686,8262059,8001978,7681396,7636265,4028159,3974576,3532121,3525854,3484837,3022923,2986142,2978516,2846185,2524648,2524025,2408759,2406720,2172781,1833648,1829836,1611909,1334406,9857184,10597251,15735664 1436 NM_005211,AC011382,CH471062,CS166288,K03012,M11067,M14002,U63963,U78096,AB208819,BC047521,BC129939,BX648599,CR613133,M14193,M25786,X03663 NP_005202,EAW61749,EAW61750,CAJ32237,AAA88039,AAA35848,AAA35849,AAB51696,AAB51235,BAD92056,AAH47521,AAI29940,AAA35834,AAA58421,CAA27300,P07333,Q59HE0,Q6LEI2,Q86VW7 Hs.654394 GDB:120600 C-FMS|CD115|CSFR|FIM2|FMS protein-coding 1354508 CSF2 colony stimulating factor 2 (granulocyte-macrophage) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. 1580863 2999978,18353856,18219369,18089573,18027871,17938902,17934321,17894541,17713553,17681858,17619839,17533050,17512774,17362254,17355643,17342342,17311927,17273755,17205286,17142110,11883735,11880043,11855781,11847009,11763346,11522597,11289721,10734053,10572088,9211889,8910448,8516290,8278375,7957082,7818827,7727786,7695626,3925454,3923623,3898082,3876930,3486413,3083507,2645577,1837174,1737041,1702217,1675789,1569568,15481145,1918997,8018916,7642615,16949316,16912178,16896315,16783532,16716376,16491014,16487109,16380083,16305336,16211258,16167889,16027123,15927668,15621725,15576295,15541716,15528381,15489334,15479432,15475489,15388264,15388258,15372022,15358207,15340054,15308671,15269821,15245433,15218949,15201279,15136573,15129224,15123671,15078892,15009203,14730225,14726527,14662891,14630612,14628073,14567558,14564341,14530365,14512323,14503968,13679820,12954601,12935848,12928384,12926133,12855588,12759409,12744771,12743567,12695562,12663443,12646185,12637324,12629028,12615367,12568301,12562384,12548211,12538575,12496443,12488507,12477932,12444058,12421569,12397015,12356582,12356579,12171249,12162871,12144536,12050184,12031914,12022701,11963838,11956032 1437 NM_000758,AC004511,AC034228,AF373868,CH471062,M13207,X03021,AF510855,AY720441,BC108724,BC113924,BC113999,M10663,M11220,M11734 NP_000749,AAC08707,AAK51563,EAW62353,AAA98768,CAA26822,AAM44054,AAU21240,AAI08725,AAI13925,AAI14000,AAA52121,AAA52578,AAA52122,P04141,Q14CE8,Q647J8 Hs.1349 GDB:119812 GMCSF|MGC131935|MGC138897 protein-coding 1351351 CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. 1580863 1358805,2555171,18236400,17681666,17522711,16760463,15489334,14614142,14504109,12759409,12670335,12637324,12604332,12538575,12504125,12477932,12421947,12393492,12384414,11238105,11169747,10734053,10584986,10572088,9723668,9625584,9446667,9211889,9028317,8943427,8910448,8547489,8144676,8086503,7994031,7945472,2828352,2148207,1972780,1832774,1715577,1702217 1438 BM149332,DQ841258,L29348,L29349,M64445,M73832,U93096,X17648,X54935,NM_172246,NM_172249,NM_172245,NM_172247,BX649553,CH471074,D26628,S48475,S48539,AK293086,AL833597,BC002635,BC071835,NM_006140 ABI32309,AAA60961,AAA60962,AAA35908,AAA35909,AAB51535,CAA35638,CAA38697,P15509,Q16498,Q4V310,Q4V311,Q4V312,Q4V313,Q4V314,Q4V315,Q4V316,NP_006131,NP_758449,NP_758452,NP_758448,NP_758450,EAW98673,EAW98674,EAW98675,EAW98676,EAW98677,EAW98678,BAA05656,AAB23942,BAF85775,AAH02635,AAH71835,Q4V317,ABM84030,ABM87375 Hs.520937 GDB:118777 CD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMR|MGC3848|MGC4838 protein-coding 1348418 CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). 632531,1601020,1580863 9516124,9389692,9278420,9257712,9254654,9211889,9195918,9162089,8752899,8666948,8666899,8649415,8631962,8278375,8246974,8213838,8180376,7896837,7796808,7775438,7682176,7636265,7556069,2645577,2157779,2151610,1833065,1833064,1638019,1424804,1495999,9410898,1702217,17667962,17362254,16767694,16754968,16007196,15461802,15308671,15060062,12488507,12477932,12393492,12384414,12202242,11557047,11551900,11207369,11122381,11101310,10772872,10753826,10736232,10704825,10490850,10477722,10362354,9973406,9677359 632531,1601020 1439 NM_000395,AL008637,AL133392,CH471095,BC070085,CR456428,M59941 NP_000386,CAI17999,EAW60125,EAW60126,AAH70085,CAG30314,AAA18171,P32927,Q5TCX5,Q6NSJ8,CAK54420,CAK54719 Hs.592192 GDB:126838 CD131|CDw131|IL3RB|IL5RB protein-coding 1349987 CSF2RB2 colony stimulating factor 2 receptor, beta, 2 pseudogene 10591208 23772 NG_002638,AL133392 GDB:10795300 fF45C1.2 pseudo 1350955 CSF3 colony stimulating factor 3 (granulocyte) The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes. The active protein is found extracellularly. Three transcript variants encoding three different isoforms have been found for this gene. 1580863 15664994,12393522,2420009,18353856,18297540,18219369,18095095,17894541,17572226,17342342,17176065,17115186,17047971,16980970,16912178,16822885,16735597,16498082,16492764,16230423,16211258,16051386,11436203,10617744,10584986,10473051,10364174,8794774,8708536,8554326,7685117,7524894,7522243,7518249,3501046,3499671,3494801,3484805,3034599,2453015,2448221,2423327,1692828,1281794,1281454,16037394,15616013,15576295,15218949,15214947,15019810,14769149,14751388,14587040,12954601,12946100,12717025,12676791,12636092,12627849,12568301,12562880,12548211,12477932,12456601,12397015,12393561,12152985,12034575,12027409,12009905,11920209,11877288,11861308,11795665 1440 NM_000759,NM_172219,AC090844,AF388025,CH471152,M13008,X03656,AK290247,BC033245,CR541891,M17706,X03438,X03655,NM_172220 NP_757374,NP_000750,NP_757373,AAK62469,EAW60626,EAW60627,EAW60628,AAA03056,CAA27291,BAF82936,AAH33245,CAG46689,AAA35882,CAA27168,CAA27290,P09919,Q6FH65,Q8N4W3 Hs.2233 GDB:119083 G-CSF|GCSF|MGC45931 protein-coding 1319271 CSF3R colony stimulating factor 3 receptor (granulocyte) The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Four transcript variants encoding four different isoforms have been found for this gene, with three of the isoforms being membrane-bound and the other being secreted and soluble. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. 17047971,17024119,16985178,16493051,16492764,16033816,15644419,15489334,15470047,15370243,15123426,14992583,14751388,14737106,14587040,14557262,12660437,12586631,12477932,12422946,12133942,12100165,12012328,11920194,11911419,11714811,11468284,10837195,10729720,10364174,9864141,9824671,9790917,9368043,9187659,8889548,8855939,8708536,8664280,8554326,8197119,7775438,7682568,7514305,7512720,2480598,2147944,1833306,1717255,1701053,1530796,7542747,1371413,17572226,17494858,17187068 1441 NM_156038,NM_156039,NM_000760,NM_172313,AC119675,AY148100,CH471059,S71484,AB209656,BC040954,BC053585,BI912247,BU681211,CR610771,CR611411,CR612645,CR612729,DQ424902,M59818,M59819,M59820,X55720,X55721 NP_724780,NP_724781,NP_000751,NP_758519,AAN05790,EAX07354,EAX07355,EAX07356,EAX07357,EAX07358,AAB20660,BAD92893,AAH53585,ABD83667,AAA63176,AAA63177,AAA63178,CAA39252,CAA39253,Q1ZYL6,Q59F05,Q99062 Hs.524517 GDB:126430 CD114|GCSFR protein-coding 1601858 CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 12163485,11514575,11788602,17145758,15489334,14702039,12975309,12477932,12446672 55790 NM_018371,AC090541,AC090786,AC116376,CH471080,AB071403,AB081516,AK002124,AK002126,AK055154,AL157483,AY358441,BC060772,BX649103,CR596296 NP_060841,EAW63770,EAW63771,EAW63772,BAB85992,BAC16217,BAA92093,CAB75673,AAQ88806,AAH60772,Q8TDX6 Hs.655166 CSGalNAcT-1|ChGn|FLJ11264|beta4GalNAcT protein-coding 1604805 CSGALNACT2 chondroitin sulfate N-acetylgalactosaminyltransferase 2 11788602,15489334,14702039,12477932,12446672,12433924 55454 NM_018590,AC010864,CH471160,AB079252,AB090811,AF086458,AF116646,AK074474,AK125300,BC030268,BX640967,BX641073 NP_061060,EAW86586,EAW86587,BAC55935,BAC55936,AAF71068,BAB85092,AAH30268,CAE45982,CAE46036,Q8N6G5,ABM82395,ABM85579 Hs.657569 CSGalNAcT-2|DKFZp686H13226|FLJ43310|GALNACT-2|GALNACT2|MGC40204|PRO0082 protein-coding 1604004 CSGlcA-T chondroitin sulfate glucuronyltransferase 18316376,15489334,14702039,12975309,12477932,12145278,10718198 54480 NM_019015,AACC02000108,AC021097,CH471173,AB037823,AB095812,AK025885,AK025897,AK056331,AY358407,BC052944,BC064509,CR608791 NP_061888,EAL24509,EAW54010,EAW54011,EAW54012,BAA92640,BAG30817,AAQ88773,AAH64509,Q9P2E5 Hs.647084 ChSy-3|KIAA1402 protein-coding 1352564 CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. 1580863 7462247,7356479,7169009,7028740,6300056,6269091,6209277,6208192,5810834,5279528,5279046,5144027,4675454,3912261,3447173,2744760,1980158,1549776,1378436,611657,593368,438159,386281,377496,71212,16189514,17400796,17125497,16950818,16807684,16546209,16410683,15713716,15531513,15489334,15231748,15001589,14997482,14673137,14642004,12682290,12655557,12644709,12477932,11897833,11502836,10966654,10931946,10391209,9329365,9276733,9152628,8943276,8674830,8552145,7984244 1442 CR605776,CR605778,CR605784,CR606041,CR606093,CR606289,CR606291,CR606466,CR606591,CR606598,CR606712,CR606743,CR606840,CR606854,CR606994,CR607050,CR607091,CR607149,CR607428,CR624647,CR624985,CR625043,CR625104,CR625149,CR625374,CR625582,CR625774,CR625838,CR625867,CR626011,CR626031,CR626130,CR626176,CR626221,CR626395,CR626454,CR626463,CR626639,CR626704,CR626712,J00118,M25118,V00593,CR594835,CR594864,CR590588,CR590632,CR590715,CR590740,CR590802,CR590494,CR590503,CR590972,CR591160,CR591321,CR591340,CR591417,CR591525,CR591705,CR591739,CR592017,CR592104,CR594905,CR595279,CR595296,CR595351,CR595662,CR595713,CR595921,CR596026,CR596027,CR596250,CR596365,CR596447,CR596504,CR596539,CR596602,CR596625,CR596910,CR596940,CR597231,CR597430,CR597599,CR597646,CR597749,CR597767,CR598212,CR598220,CR598246,CR598293,CR598407,CR598419,CR598457,CR598505,CR598579,CR598783,CR598863,CR598937,CR599098,CR599161,CR599408,CR599528,CR599531,CR599591,CR599639,CR599883,CR599897,CR599911,CR600155,CR600410,CR600413,CR600635,CR600641,CR600736,CR594778,CR592334,CR592481,CR592486,CR592502,CR592728,CR592879,CR592885,CR592981,CR592996,CR593277,CR593393,CR593413,CR593469,CR593660,CR593959,CR594027,CR594159,CR594237,CR594291,CR594302,CR594342,CR594377,CR594515,CR594577,CR594619,CR594776,NM_022641,NM_022640,NM_001317,NG_001334,A12770,AC040958,AC127029,CH471109,EU421714,J03071,K02401,M90545,BC002717,BC005921,BC020756,BC057768,BC062775,BT006926,CR589999,CR590057,CR590060,CR590382,CR620891,CR620937,CR621080,CR621181,CR621648,CR621891,CR621919,CR621954,CR622008,CR622059,CR622127,CR622152,CR622470,CR622602,CR622748,CR623229,CR623264,CR623276,CR623287,CR623298,CR623401,CR623417,CR623451,CR623469,CR623542,CR623570,CR624109,CR624178,CR624232,CR624472,CR624505,CR624534,CR600909,CR601031,CR601066,CR601165,CR601307,CR601342,CR601370,CR601491,CR601677,CR602006,CR602268,CR602514,CR602518,CR602672,CR602737,CR602849,CR602888,CR603173,CR603324,CR603406,CR603528,CR603759,CR603809,CR603820,CR603907,CR604049,CR604195,CR604276,CR604462,CR604805,CR604889,CR604939,CR604979,CR605026,CR605118,CR605365,CR605382,CR605508,CR605692,CR619097,CR619103,CR619105,CR619286,CR619316,CR619357,CR619425,CR619564,CR619594,CR619645,CR619648,CR619674,CR619799,CR619934,CR619986,CR620014,CR620049,CR620140,CR620157,CR620169,CR620524,CR620822,CR615810,CR615867,CR615975,CR615978,CR616170,CR616422,CR616436,CR616611,CR616660,CR616752,CR616833,CR616852,CR617071,CR617072,CR617241,CR617268,CR617369,CR617479,CR617499,CR617529,CR617668,CR617983,CR618004,CR618078,CR618132,CR618200,CR618470,CR618593,CR618653,CR618703,CR618794,CR618933,CR618986,CR618992,CR619044,CR619094,CR607531,CR607572,CR607763,CR607823,CR607891,CR607961,CR608146,CR608401,CR608457,CR608724,CR608744,CR608751,CR609023,CR609208,CR609245,CR609286,CR609350,CR609419,CR609620,CR609656,CR609696,CR610209,CR610224,CR610286,CR610355,CR607493,CR610435,CR610446,CR610498,CR610642,CR610745,CR610814,CR610828,CR610940,CR611027,CR611038,CR611412,CR611453,CR611498,CR611505,CR611694,CR611962,CR612166,CR612322,CR612383,CR612411,CR612449,CR612546,CR613125,CR613313,CR613375,CR613416,CR613452,CR613646,CR613660,CR613696,CR613721,CR613771,CR614101,CR614158,CR614306,CR614423,CR614693,CR614793,CR614858,CR615097,CR615133,CR615316,CR615426,CR615728 AAA98621,AAA35721,CAA23840,Q6PF11,NP_072167,NP_072166,NP_001308,CAA01057,EAW94235,EAW94236,EAW94237,EAW94241,EAW94243,EAW94254,EAW94257,EAW94259,ABZ88716,ABZ88717,ABZ88718,AAA52551,AAA52115,AAH02717,AAH05921,AAH20756,AAH57768,AAH62775,AAP35572 Hs.654390 GDB:119084 CSA|CSMT|PL protein-coding 1351257 CSH2 chorionic somatomammotropin hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. 1580863 15531513,15489334,15231748,12703979,12477932,10944529,9312053,8674830,7169009,7072716,6300056,6209277,6208192,5286363,4712450,3030680,2744760,1980158,1378436,593368,438159,16189514 1443 NM_022645,NM_022644,NM_020991,NG_001334,AC015651,EU421716,J00289,J03071,M15894,BC022044,BC035965,BC119748,CR590350,CR590900,CR590903,CR591265,CR591961,CR592855,CR593623,CR594269,CR594288,CR597810,CR597949,CR598163,CR601850,CR601852,CR601892,CR604297,CR604575,CR605300,CR606319,CR607879,CR608255,CR609279,CR610153,CR610284,CR610936,CR611264,CR612077,CR612273,CR613557,CR613577,CR614133,CR614147,CR614173,CR614319,CR614464,CR615313,CR615376,CR615915,CR619169,CR620501,CR620642,CR621021,CR621851,CR621985,CR622231,CR622588,CR622910,CR622947,CR623104,CR623447,CR623454,CR624074,CR625026,V00573 NP_072171,NP_072170,NP_066271,ABZ88723,ABZ88724,ABZ88725,AAA98747,AAA52553,AAA52116,AAH22044,AAH35965,AAI19749,CAA23836,P78451,Q0VDB1,ABM83752,ABM87071 Hs.654390,Hs.654515 GDB:119813 CS-2|CSB|hCS-B protein-coding 1342785 CSHL1 chorionic somatomammotropin hormone-like 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 2744760,12477932,8083227,3030680,1980158,1378436,12370315 1444 NM_001318,NM_022580,NM_022579,NM_022581,NG_001334,AC127029,CH471109,EU421713,J03071,M15895,BC029365,BC119747,CR595432,CR609317,CR618037,CR622660,CR622959 NP_001309,NP_072102,NP_072101,NP_072103,EAW94245,EAW94246,EAW94250,EAW94253,EAW94262,EAW94264,AAA52550,AAH29365,AAI19748,Q0VDB2,Q14406 Hs.655225 GDB:119085 CS-5|CSHP1|CSL|MGC149868|hCS-L protein-coding 1318780 CSK c-src tyrosine kinase 1580863 8890164,1945408,15574420,10790433,18332219,18258597,18039857,17936985,17936276,17692281,17691821,17525734,17491594,17329398,17325034,17223712,17192257,17143285,17137590,17132222,17125257,17060931,17056000,17018524,17012367,16964398,16859511,16858407,16636672,16532030,16439366,16135530,16002086,15961079,15890649,15861137,15749833,15743820,15623523,15489334,15474475,15144186,14993273,14707140,14702039,14657361,14610046,14561750,12871315,12794155,12782282,12707358,12697812,12686554,12665526,12645577,12588871,12547828,12485116,12477932,12473651,12468645,12400005,12387813,12052863,11976726,11971983,11805080,11724538,11695992,11685249,11602604,11433379,11278940,11181701,11158295,11149930,11084024,11035005,10918051,10801129,10753943,10733577,10210201,10037694,10026153,9794236,9624175,9621077,9582365,9553134,9373149,9221755,9208935,9172452,9148770,9110174,8619474,8612628,8262983,8125298,7683131,7678701,7544435,7529872,7515063,7513429,7511113,1985196,1720539,1377109,1371489,11872746,11834728,12048194,12402152,15175272,16729043 1445 BC106073,CR541960,CR620625,X59932,X60114,NM_004383,NM_001127190,AC091230,CH471136,DQ075211,X74765,AK127672,AK223626,AK290531,AW575209,AY007162,BC104847,BC104875 AAI04876,AAI06074,CAG46758,CAA42556,CAA42713,P41240,Q53EL3,NP_004374,NP_001120662,EAW99311,EAW99312,AAY57329,CAB58562,BAD97346,BAF83220,AAI04848 Hs.77793 GDB:131642 MGC117393 protein-coding 1312937 CSMD1 CUB and Sushi multiple domains 1 16547280,16421571,16221525,16203795,16153303,15342556,15138198,14702039,14671302,14506705,12975309,12906867,12874026,12696061,11572484,11472063 64478 NM_033225,AC009428,AC009707,AC010941,AC012543,AC021523,AC022068,AC022846,AC022910,AC023296,AC026991,AC027251,AC087367,AC087692,AC090875,AC103782,AC103826,AC105998,AC107945,AC113147,AC135324,AY407073,CH471153,AA889055,AB067477,AB209502,AF333704,AK126857,AK126936,AK127129,AW293447,AY017307,AY358174,BP229721 NP_150094,EAW80463,EAW80464,BAB67783,BAD92739,AAK73475,BAC86754,AAG52948,AAQ88541,Q0H0J5,Q59FF8,Q96PZ7 Hs.571466 GDB:11505840 KIAA1890 protein-coding 1347365 CSMD2 CUB and Sushi multiple domains 2 1580863 16710414,16429158,11572484,15489334,14702039,12906867,12477932 114784 AK022620,AK095627,AK122603,AK127722,AK291019,AY210418,BC031871,AC115285,AC115286,AC116993,AL121980,AL139140,AL161643,AL355178,AL596224,AL607106,CH471059,AB067471,AB212622,NM_052896 BAD97692,BAC04593,BAC87101,BAF83708,AAO34701,AAH31871,Q53TY4,Q5T6B6,Q5TAH7,Q7Z408,NP_443128,CAI19066,CAI23434,CAI23435,EAX07447,EAX07448,EAX07449,EAX07450,EAX07451,BAB67777 Hs.656915 KIAA1884|dJ1007G16.1|dJ1007G16.2|dJ947L8.1 protein-coding 1316806 CSMD3 CUB and Sushi multiple domains 3 15523607,14702039,12943675,12906867,12477932,11572484 114788 NM_052900,NM_198123,NM_198124,AC007719,AC009424,AC021264,AC024996,AC027189,AC055788,AC067903,AC087710,AC104380,AC107890,CH471060,AB067481,AB114604,AB114605,AK095111,AK126252,AY210419,BC140003,BX648252 NP_443132,NP_937756,NP_937757,EAW91944,EAW91945,EAW91946,EAW91947,EAW91948,BAB67787,BAC82443,BAC82444,BAC86505,AAO34702,AAI40004,Q7Z407 Hs.91381 KIAA1894 protein-coding 1606842 CSN1S1 casein alpha s1 16683014,12633878,11329013,10971580,9820977,9050925,8192860,7698025,7665586,7619062,7556643,10523312,10954422 1446 NM_001890,NM_001025104,AC108941,CH471057,BC128227,BC128228,BG217918,DQ064604,U23157,X78416,X98084 NP_001881,NP_001020275,EAX05598,EAX05599,EAX05600,AAI28228,AAI28229,AAY68392,AAA69477,CAA55185,CAA66708,P47710,Q4PNR5 Hs.3155 CASA|CSN1|MGC149368 protein-coding 1343658 CSN1S2A casein alpha s2-like A This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. 1580863 13679022 286828 NR_003720,AC063956,CH471057,AY154892,BC128170,BC128173,BC141914,BC150502 EAX05608,AAN85580,Q8IUJ1 Hs.631945 pseudo 1352220 CSN1S2B casein alpha s2-like B This locus is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. 13679022 317712 NR_003721,AC104811,AW104440 Hs.518795 pseudo 1352883 CSN2 casein beta 1580863 2387396,16973758,16947075,15489334,12860119,12788072,12477932,12146463,10971580,9795185,9187653,8565637,8112603,7698025,6715339,2717418,1577486,1382974,15618286 1447 NM_001891,A24287,AC063956,AC108941,AF027807,CH471057,BC069554,BC096194,BC096195,BC096196,BC096197,X13766,X17070,X55739,A30262 NP_001882,CAA01728,AAC82978,EAX05601,EAX05602,AAH69554,AAH96194,AAH96195,AAH96196,AAH96197,CAA32017,CAA34916,CAA39270,P05814,Q9UCM5,CAA02017 Hs.2242 GDB:125234 CASB protein-coding 1349233 CSN3 casein kappa 1580863 1296818,17846126,15866733,15489334,12477932,12146463,11827172,11329013,10191473,9050925,8863730,7460900,4018271,16189514 1448 NM_005212,AC105347,CH471057,U51899,BC010935,BG191674,M73628,X66417 NP_005203,EAX05614,AAC50772,AAH10935,AAA59456,CAA47048,P07498 Hs.54415 CSN10|CSNK|KCA protein-coding 736167 CSNK1A1 casein kinase 1, alpha 1 1580863,2293188 10777483,11955436,12000790,12820959,15327769,16753179,18067272,17626781,17192257,16943283,16880514,16565220,15761153,15687492,15635413,15489334,15131121,15003508,14574644,14558941,12477932,12210746,12062430,11884395,11875057,11779193,11583622,11500362,11278595,10961987,10930456,10413673,9765199,9630228,9391750,9360956,8972483,8404858,8253806,8050587,7797465,7622570,7559483,1409656,9045708 2293188 1452 NM_001892,NM_001025105,AC021078,CH471062,AF218004,AF447582,AL701526,BC007246,BC008717,BC009186,BC020446,BC021971,BC025371,BC040473,BC105984,BT019829,BT019830,CR542206,CR618660,DQ082865,L37042,X80693 NP_001883,NP_001020276,EAW61767,EAW61768,EAW61769,EAW61770,EAW61771,EAW61772,EAW61773,EAW61774,EAW61775,EAW61776,AAG17246,AAL60204,AAH07246,AAH08717,AAH21971,AAH25371,AAV38632,AAV38633,CAG47002,AAY84562,AAC41760,CAA56710,P48729,Q05DL3,Q4JJA0,Q5U046,Q5U047,Q6FGA2,Q6PJ06,Q71TU5,Q8WXF2,Q9P137 Hs.529862 GDB:386526 CK1|HLCDGP1|PRO2975 protein-coding 1352235 CSNK1A1L casein kinase 1, alpha 1-like 1580863 15489334,12477932,11708798 122011 NM_145203,AL391383,CH471075,BC028723 NP_660204,CAI15195,EAX08587,AAH28723,Q5T2N2,Q8N752,ABM82157,ABM85341 Hs.512897 MGC33182|RP11-532O21.2 protein-coding 733311 CSNK1D casein kinase 1, delta This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Two transcript variants encoding different isoforms have been found for this gene. 1580863 8786104,17353931,18400165,18228528,17962809,17562708,17192257,17131344,17081983,16189514,16027726,15800623,15489334,15070676,15003508,14761950,12477932,12270943,12270714,12181329,12000790,11955436,11865049,11818547,11278841,11218372,11165242,11161704,10852916,10826492,10617630,10606744,10500146,9990034,9761932,9632646,9558331,9349507,8972483,7797465,7665585 1453 NM_139062,AC132872,CH471099,U31285,AB091044,AB209463,AK128863,AK291758,BC003558,BC015775,BC047000,CR593622,CR598920,CR600739,U29171,NM_001893 NP_620693,EAW89758,EAW89759,EAW89760,EAW89761,EAW89762,AAC50808,BAC10903,BAD92700,BAF84447,AAH03558,AAH15775,AAC50807,P48730,Q59FJ7,NP_001884 Hs.631725 GDB:604582 HCKID protein-coding 732829 CSNK1E casein kinase 1, epsilon The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. 1580863 7797465,17218255,17353931,18400165,18262492,18258753,18228528,17984998,17962809,17192257,17081983,16818876,16616143,16557393,16528748,16513652,16274701,16237383,16189514,15917222,15767683,15747065,15489334,15461802,15302935,15187983,15133026,15070676,15003508,14722104,14702039,12556519,12477932,12270714,12183362,12000790,11875063,11865049,11818547,11583622,11487578,11232563,10899319,10848614,10790862,10591208,10542239,10535959,9674431,9632646,9430669,9373149,9349507,8125298,14701732,16009131 1454 NM_152221,AL020993,CH471095,AB024597,AB091043,AK223498,BC006490,BC013088,BQ434269,BQ642398,BT019831,BU517079,NM_001894,CF594072,CR590991,CR591261,CR592492,CR456429,CR594270,CR596620,CR599035,CR601194,CR601968,CR609912,CR614988,CR617099,CR618321,CR618521,CR619665,CR622296,CR622448,CR623072,CR625738,L37043 NP_001885,NP_689407,CAA15888,CAQ10210,CAQ10211,CAQ10212,CAQ10213,CAQ10214,CAQ10215,EAW60228,EAW60230,EAW60232,EAW60233,EAW60234,BAA92345,BAC10902,BAD97218,AAH06490,AAV38634,CAG30315,AAC41761,P49674,Q53EZ1,Q5U045,CAK54421,CAK54720,ABM83538,ABM86778 Hs.474833 GDB:604574 HCKIE|MGC10398 protein-coding 733469 CSNK1G1 casein kinase 1, gamma 1 Casein kinase I is the most abundant serine/threonine kinase in eukaryotic cell extracts. Multiple isoforms of the enzyme exist. The gamma-1 isoform is involved in growth and morphogenesis of eukaryotic cells.[supplied by OMIM] 1580863,1300048,2293188 16344560,15489334,14759258,14702039,12477932,12119564,11124537,9373149,8125298,15003508 2293188 53944 AC087632,AC100840,AC110054,CH471082,AB042562,AB042563,AF223357,AK023779,AK025179,AK026957,AK126968,AK225960,AL832551,BC017236,NM_022048,BC062995,BC077731,BC130613,CF593592,CR599494,CR619586,DB094870 NP_071331,EAW77670,EAW77671,EAW77673,EAW77676,EAW77678,BAB17838,BAB17839,AAO12758,BAB15601,CAI46142,AAH17236,AAI30614,Q5JPH1,Q8IXA3,Q9H5M4,Q9HCP0 Hs.646508 GDB:10796303 casein kinase 1 gamma 1 protein-coding 734368 CSNK1G2 casein kinase 1, gamma 2 1580863,1300048 9403068,16189514,15917222,15489334,15342122,15300631,15077195,15057824,15003508,12477932,12062430,9110174,9006905,8619474 1455 AF001177,AC005306,AC012615,CH471139,AY007134,BC018693,BC018699,BC020972,BT009922,CA423327,CR994929,U89896,NM_001319 AAC00212,ABM81621,ABM84806,NP_001310,AAC26983,EAW69426,EAW69427,EAW69428,EAW69429,EAW69430,EAW69431,AAG01997,AAH18693,AAH18699,AAH20972,AAP88924,AAB88627,P78368,Q9H4N7 Hs.651905 GDB:6278645 CK1g2 casein kinase 1 gamma 2 isoform protein-coding 731819 CSNK1G3 casein kinase 1, gamma 3 1580863,1300048 9925945,15489334,15146197,15003508,12477932,7759525 1456 NM_001044723,NM_004384,NM_001031812,NM_001044722,AC008541,AC026422,CH471086,AA989359,AF049089,AF049090,AK289405,BC047567,CN286763 NP_001038188,NP_004375,NP_001026982,NP_001038187,EAW48867,EAW48868,EAW48869,EAW48870,EAW48871,EAW48872,AAD26525,AAD26526,BAF82094,AAH47567,Q9Y6M4 Hs.129206 GDB:9864261 casein kinase 1 gamma 3 isoform protein-coding 733323 CSNK2A1 casein kinase 2, alpha 1 polypeptide Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. While this gene is found on chromosome 20, a related transcribed pseudogene is found on chromosome 11. Three transcript variants encoding two different proteins have been found for this gene. 17923166,17894550,17699575,17670747,17636126,17629615,17545155,17524418,17289674,17113388,17106255,17009010,16880508,16874460,16873060,16837460,16806200,16751801,16651637,16581776,16540521,16428860,16426576,16344560,16342410,16308564,16227438,16225457,16193064,16169070,16157582,16133877,16107342,15955816,15818404,15805470,15740749,15684395,15659405,15637053,15557471,15489334,15469824,15385968,15345747,15342635,15324660,15302935,15287743,15218032,15108354,15082798,15066279,15060571,14993654,14985113,14962846,14756785,12191471,12176973,12175859,12145206,12107178,12102635,12082111,12037680,11997511,11956194,11940573,11883897,11877451,11861906,11827178,11827177,11827176,11827174,11827172,11827171,11827170,11827168,11827167,11827166,11827164,11780052,11756447,11742978,11713579,11711551,11709713,11602581,11583622,11557039,11551505,11535139,11535131,11500362,11439109,11378439,11342557,11313925,11290787,11278496,11255227,11239457,11146653,11115400,11092945,11075956,11062072,11038365,11034995,11004567,10994779,10993892,10984616,10970045,10961987,10951572,10942766,10938077,10884347,10852916,10844023,10806407,10806215,10772927,10764593,10760275,10753899,10747897,14729942,14675149,14667819,14646071,14645218,14634006,14633983,14614449,14608369,10737800,10671552,10667577,10650937,10618498,10617630,10580090,10559254,10523317,10491318,10491172,10471512,10448092,10403822,10398585,10381337,10350657,10348343,10094407,10066810,10023679,9990034,9930733,9886053,9858576,11972058,2174700,10799509,18242640,18089732,18026141,17935135,14559993,14527438,14527415,12930845,12876286,12860119,12860116,12769847,12748192,12700239,12659875,12628923,12591939,12588975,12568341,12564933,12558502,12527891,12511551,12477932,12450396,12432063,12393879,12297295,12220519,9834084,9806882,9804834,9733784,9722526,9685505,9677319,9654140,9647734,9600099,9571630,9558331,9525959,9503018,9461343,9446557,9407077,9213219,9188720,8592152,8548340,8547318,8491187,8420794,8404858,8376365,8349691,8288648,8270625,8253806,8247525,8206911,8188256,8139011,8107101,8089108,8058322,8024572,8002936,9185604,9153193,9151826,9139659,9115440,9092824,9074495,9045708,9038206,9030586,8972483,8954982,8939955,8806671,8663403,8663267,8663258,8662759,8659106,8639568,8632909,8622969,8622692,8619999,7983041,7961967,7896000,7876254,7846527,7794926,7794916,7768894,7689229,7678037,7657714,7651819,7646439,7598724,7592773,7565749,7491787,3128543,2998765,2900140,2874131,2806554,2752008,2663470,2557337,2492519,2271631,2192260,2117608,2046671,1985907,1894695,1766873,1740119,1577469,1541298,1520270,1516134,1425701,1400350,10944435,10641798,10549869,9881639,10964683,17353931,15778465,11984006,15225637,12902976,12149649,15893730,11574463,12901717,7809103 1457 NM_001895,NM_177559,AF011920,AL049761,CH471133,X69951,AU130091,AU131227,AU132198,AU133318,AW876962,AY735339,BC002615,BC011668,BC050036,BC053532,BC071167,NM_177560,BT019792,DQ354583,J02853,M55265,S53149 NP_808228,NP_001886,NP_808227,CAB65624,EAX10665,EAX10666,EAX10667,EAX10668,EAX10669,AAH11668,AAH50036,AAH53532,AAH71167,AAV38595,ABC86794,AAA56821,AAA35503,ABB72474,P68400,Q2I0Y7,Q5U065,Q5U5J2,Q8NEV1,ABM84028,ABM87373 Hs.709183 GDB:129560 CK2A1|CKII casein kinase ii, alpha 1 polypeptide protein-coding 1346188 CSNK2A1P casein kinase 2, alpha 1 polypeptide pseudogene 15684395,15489334,14646071,12860116,12393879,12102635,11780052,11239457,11181995,11092945,8420794,7942276,2752008,2174700,1766873,1610905,1577469 283106 NR_002207,AC023946,CH471064,X64692,X70251,AY112721,CR590205 EAW68546,CAA49758 Hs.654675 GDB:134227 pseudo 1315751 CSNK2A2 casein kinase 2, alpha prime polypeptide 1580863 11972058,10471512,2174700,17903308,16335532,15761153,15635413,15489334,15345747,15302935,15218032,14729942,14702039,14685260,14667819,12930845,12860119,12769847,12591939,12588975,12568341,12564933,12558502,12511551,12477932,12466282,12450396,12432063,12393879,12297295,12145206,12107178,12082111,12037680,11940573,11877451,11827177,11827172,11827170,11827166,11742978,11713579,11711551,11602581,11583622,11557039,11535139,11500362,11378439,11278496,11239457,11146653,11062072,11034995,11004567,10994779,10993892,10984616,10982400,10970045,10961987,10938077,10852916,10844023,10806215,10772927,10764593,10760275,10747897,10671552,10618498,10617630,10559254,10066810,9930733,9858576,9806882,9722526,9685505,9654140,9600099,9571630,9525959,9461343,9407077,9185604,9151826,9092824,9074495,9045708,8954982,8806671,8663403,8663267,8663258,8659106,8639568,8622969,8592152,8548340,8547318,8491187,8404858,8288648,8253806,8206911,8188223,8139011,8107101,8089108,8058322,7983041,7896000,7794926,7794916,7735329,7689229,7678037,7651819,7491787,3128543,2998765,2900140,2874131,2806554,2663470,2557337,1985907,1766873,1740119,1541298,1520270,1516134,1425701,10964683,17353931,16189514,7768894 1459 NM_001896,AC009107,CH471092,AI150700,AK090752,AK125922,BC008812,CR597978,M55268 NP_001887,EAW82969,BAC03512,AAH08812,AAA51548,P19784,Q8NBD3,ABM83951,ABM87268 Hs.82201 GDB:129561 CK2A2|CSNK2A1|FLJ43934 protein-coding 1347139 CSNK2B casein kinase 2, beta polypeptide This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. 10094392,1856204,2666134,2513884,17912454,17681943,17092945,17081983,17038328,16713569,16895915,16806200,16225457,15940255,15489334,15485924,15225637,15218032,14667819,14656967,14645218,14634006,14574404,12954211,12902976,12901717,12804768,12748192,12591939,12527891,12511551,12477932,12470599,12432063,12393879,12220519,12145206,12102635,12037680,11984006,11972058,11940573,11883897,11861906,11827178,11827177,11827176,11827174,11827171,11827168,11827167,11827166,11713579,7689229,7578274,7491787,2300566,2276748,1939094,1694965,1541298,10944435,10641798,10549869,9881639,10964683,17353931,15893730,11574463,7768894,10506147,11710515,11709713,11583622,11546811,11535139,11485312,11396975,11378439,11298324,11239457,11092945,11062072,10984616,10951572,10931861,10764587,10747897,10679299,10549165,10491318,10403822,10327653,10214938,10094400,9738462,9654140,9571630,9503014,9478999,9299532,9188720,9185604,9151826,9092824,9042965,9013635,8943850,8812450,8806671,8806611,8659106,8548340,8349691,8139011,8107101,8089108,7942276,7838153,7794916 1460 NM_001320,AF129756,AL662899,AL670886,AL805934,BA000025,BX511262,CH471081,CR354443,CR753842,CR759761,DQ314868,X57152,BC112017,BC112019,CR541699,CR592250,CR599194,CR605823,CR612451,CR614763,CR620110,CR625128,X16312,X16937,AY113186 NP_001311,AAD18081,CAI18393,CAI96141,CAI17798,CAI17800,CAI18521,CAI18523,BAB63386,CAM45825,EAX03472,EAX03473,EAX03474,EAX03475,CAQ07002,CAQ06572,CAQ10879,ABC40727,CAA40442,AAM50092,AAI12018,AAI12020,CAG46500,CAA34379,CAA34811,P67870,Q5SQ52,Q5SRQ5,Q5SRQ6,Q5SSR7 Hs.73527 GDB:125235 CK2B|CK2N|CSK2B|G5A|MGC138222|MGC138224 protein-coding 730838 CSPG4 chondroitin sulfate proteoglycan 4 A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. 734840 10587647,8790396,17592550,17591920,17268261,16625365,16455987,16407841,16335952,16253523,16169245,15504744,15342556,15231748,15210734,15181153,15009727,14573520,12477932,12220645,11278606,10967549,9488735,9013976,12458226 734840 1464 NM_001897,AC105020,CH471136,AY359468,BC033194,BC128110,BP363063,BQ679485,CA428796,CA438367,CB044012,X96753 NP_001888,EAW99239,EAW99240,AAQ62842,AAI28111,CAA65529,Q6UVK1 Hs.513044 GDB:5898824 HMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2 chondroitin sulfate proteoglycan 4 (melanoma-associated) protein-coding 1351467 CSPG4LYP1 chondroitin sulfate proteoglycan 4-like, Y-linked pseudogene 1 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. 12815422 114758 NR_001554,NG_004755,AC006328,AF332228 Hs.514045 GDB:11505842 CSPG4LY chondroitin sulfate proteoglycan 4-like, y-linked pseudo 1606764 CSPG4LYP2 chondroitin sulfate proteoglycan 4-like, Y-linked pseudogene 2 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. 12815422 84664 NR_002194,NG_004755,AC006328,AC023274 Q96RM9 pseudo 733098 CSPG5 chondroitin sulfate proteoglycan 5 (neuroglycan C) 1580863 12885772,9950058,16901907,16299773,15358134,12477932,11076863,8889548 10675 AC099778,AC112512,NM_006574,CH471055,AF059274,AF461087,AF461088,AF461089,AI368601,AI989800,AW003890,BC041406,BM674119,BU732090,DB636494 NP_006565,EAW64829,EAW64830,AAC69612,AAQ04774,AAQ04775,AAQ04776,AAH41406,O95196,Q49AA8,AAI11584 Hs.45127 GDB:9958128 MGC44034|NGC chondroitin sulfate proteoglycan 5 protein-coding 1605630 CSPP1 centrosome and spindle pole associated protein 1 CSPP1 interacts with centrosomes and microtubules and plays a role in cell-cycle progression and spindle organization (Patzke et al., 2005 [PubMed 15580290]; Patzke et al., 2006 [PubMed 16826565]).[supplied by OMIM] 16826565,16344560,15580290,14702039,12477932 79848 NM_024790,AC087359,AC109335,CH471068,AJ583433,AK026143,AK096205,AK127108,AM156947,BC022867,BC029445,BX649147,DA245734,NM_001077204 NP_001070672,NP_079066,EAW86932,EAW86933,EAW86934,CAE47426,BAB15375,BAC86832,CAJ42307,AAH22867,AAH29445,Q1MSJ5,Q6ZSW4,Q8NHT1,Q9H688,AAI48418,AAI52994 Hs.370147 CSPP|FLJ22490|FLJ38886 protein-coding 737489 CSRP1 cysteine and glycine-rich protein 1 CSRP1 is a member of the CSRP family of genes encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in CRP1 is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation Other genes in the family include CSRP2 and CSRP3. 1580863 1374386,17486081,17341888,17081983,16964243,15489334,14702039,12539241,12477932,11790298,10926853,9925910,9507743,7938009,2115670,1385304 1465 AC096677,CH471067,M76378,AB209756,AK057876,AK122812,AK126445,AK126507,AK131508,AK290133,AK293053,BC004265,BC007492,BC018806,BC032493,BT019520,BX537488,BX641046,CR592909,CR593715,CR593927,CR595754,CR596845,CR598103,CR601068,CR603852,NM_004078,CR606741,CR606958,CR610287,CR613321,CR613755,CR613760,CR614180,CR615193,CR615597,CR616700,CR619913,CR621634,CR622848,CR623326,CR624405,CR624463,CR625414,CR625797,CR627407,M33146 NP_004069,EAW91370,EAW91371,AAA58431,BAD92993,BAD18652,BAF82822,BAF85742,AAH04265,AAH32493,AAV38327,CAH10559,CAH10496,AAA35720,P21291,Q59EQ5,Q5U0J2,Q6AI18,Q6AWD1,Q6PIR5,Q6ZMS3,Q9BTA4 Hs.108080 GDB:135005 CRP|CRP1|CSRP|CYRP|D1S181E|DKFZp686M148 protein-coding 1352848 CSRP2 cysteine and glycine-rich protein 2 CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. 1580863 15489334,12861049,12496489,12477932,11672422,10924333,9286703,8824798,8626582,7499425 1466 NM_001321,AC124784,CH471054,U95018,AY349166,BC000992,BT019913,CR598239,CR611980,U46006,U57646 NP_001312,EAW97336,EAW97337,AAC51755,AAH00992,AAV38716,AAC27344,AAC51753,Q16527,ABM81901,ABM85075 Hs.530904 GDB:6275874 CRP2|LMO5|SmLIM protein-coding 1319928 CSRP2BP CSRP2 binding protein CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10924333,16189514,15489334,14702039,12975309,12477932,11780052 57325 NM_020536,NM_177926,AL050321,CH471133,AF086492,AF252257,AK023634,AK023759,AY358666,BC007537,BC009174,BM552422 NP_065397,NP_808779,CAB56651,EAX10254,EAX10255,EAX10256,AAG10249,BAB14669,AAQ89029,AAH07537,AAH09174,Q6UWS5,Q9H8E8,ABM84436,ABM87506 Hs.488051 GDB:11505844 CRP2BP|MGC15388|PRO1194|dJ717M23.1 protein-coding 1342895 CSRP2P cysteine and glycine-rich protein 2 pseudogene 9286703,8361751,7499425 1467 NG_000852,AC073352,U72535 GDB:6276020 pseudo 733068 CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. 1598499,734841,1598503,704404,1580863 12127981,7954791,17519359,15489334,12878195,12642359,12507422,12477932,11113014,10751147,9234731,8782062,7499425,7490106,16189514 1598499,734841,1598503 8048 NM_003476,NM_001127656,AC009652,CH471064,EF179182,U72898,AF121260,AI184002,AJ711422,BC005900,BC024010,BC057221,BF671742,U20324,U49837,U72899 NP_003467,NP_001121128,EAW68355,EAW68356,ABN05285,AAD00189,AAF28868,AAH05900,AAH24010,AAH57221,AAA91104,AAA92571,AAD00183,P50461,ABM84051,ABM87401 Hs.83577 GDB:717041 CLP|CMD1M|CRP3|LMO4|MGC14488|MGC61993|MLP cysteine-rich protein 3 protein-coding 1352376 CST1 cystatin SN The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. 1580863 3446578,15829315,15489334,15340161,12477932,11879580,11788998,11780052,9007972,8708950,8179826,7896273,7690606,3514272,3202964,2837486,1898352,1778989,1471486 1469 NM_001898,NG_000839,AL591074,CH471133,M19169,BC021225,J03870 NP_001889,CAC94783,EAX10134,AAA36115,AAH21225,AAA60299,P01037 Hs.123114 GDB:119815 protein-coding 1352205 CST10 cystatin 10 (chondrocytes) 79553 AB036743 GDB:11508691 735574 CST11 cystatin 11 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein whose specific function has not been determined. Alternative splicing yields two variants encoding distinct isoforms. 1580863 15489334,12477932,12072414,11780052,9007972,8179826,7896273,7690606,3202964 140880 NM_080830,NM_130794,NG_000839,AL096677,CH471133,AF335480,AF335481,BC121079,BC121080 NP_543020,NP_570612,CAI20158,CAI20159,EAX10146,EAX10147,AAL71991,AAL71992,AAI21080,AAI21081,Q0VAF3,Q9H112 Hs.128100 GDB:11505846 CST8L|SC13|dJ322G13.6 protein-coding 1354411 CST2 cystatin SA The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. 1580863 3446578,15829315,15489334,15340161,15274116,12477932,12413693,12013824,11879580,11780052,11276250,9007972,8179826,7896273,7690606,6662498,6365094,6283552,3495457,3436950,3202964,2764935,2541223,2363674,1898352,1778989,1471486,1352269 1470 NM_001322,NG_000839,AF319564,AL591074,CH471133,M19671,M19672,M19673,BC062679 NP_001313,AAK11570,CAC94784,EAX10133,AAA36116,AAH62679,P09228 Hs.669305 GDB:119816 MGC71924 protein-coding 736914 CST3 cystatin C The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. 1580863 15489334,15479453,15350470,15340161,15336605,15223845,15212828,15122877,15086483,15037657,15034766,15013312,14726415,14714581,14672279,12938144,12787072,12758063,12738401,12670666,12663624,12589965,12483523,12479412,12477932,12101112,12038606,11865157,11815350,11780052,11750287,11711204,11681790,11468325,11276250,11115496,11074789,10993992,10428479,8486384,8179826,7890620,6662498,6365094,6283552,15728313,15719405,15603510,18408364,18317874,18307033,18089366,18044340,18026102,18026100,17998865,17963746,17947596,17901710,17852801,17852800,17826782,17822797,17718592,17668246,17660266,17636214,17552057,17537416,17470433,17394021,17353786,17310123,17210589,17192785,17130480,16979980,16838182,16713569,16640527,16612983,16612982,16608402,16481598,16446102,16443201,16437581,16386559,16213753,16188386,16170782,16131730,16049933,16005452,15882666,15860739,15832773,15829557,3517880,3495457,2900981,2764935,2689007,2567273,2541223,2363674,2304899,2013314,1996959,1731767,1352269,14503883 1471 NM_000099,NG_000839,AL121894,CH471133,CS208043,M27891,X52255,X61681,X61682,BC013083,BC110305,BT006839,BX647523,CR541988,CR542018,CR590218,CR601605,CR606174,CR612887,CR622151,X05607 NP_000090,CAC05424,EAX10137,EAX10138,CAJ44947,AAA52164,CAA36497,CAA43856,AAH13083,AAI10306,AAP35485,CAG46785,CAG46815,CAA29096,P01034,ABM82365,ABW03385 Hs.304682 GDB:119817 ARMD11|MGC117328 cystatin C (amyloid angiopathy and cerebral hemorrhage)|cystatin c protein-coding 1345836 CST4 cystatin S The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. 1580863 15489334,12477932,11879580,11780052,10483070,9007972,8636877,8179826,7896273,7690606,6501254,6394600,3496880,3202964,1939105,1898352,1898055,1801729,1778989,1747107,1741693,1471486,1334620 1472 S51222,BC065714,BC074952,BC074953,X54667,NM_001899,NG_000839,AF319565,AL359433,CH471133 AAB24493,AAH65714,AAH74952,AAH74953,CAA38478,P01036,NP_001890,AAK11571,CAC07196,EAX10135 Hs.654549 GDB:136381 MGC71923 protein-coding 1322184 CST5 cystatin D The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. 1580863 1939105,15728581,15489334,12477932,11879580,11780052,9007972,8444475,8422752,8340398,8179826,8083219,7896273,7690606,3202964 1473 NM_001900,NG_000839,AL591074,CH471133,X59964,BC062678,BC069514,CB985957,X70377 NP_001891,CAI23644,EAX10132,CAA42590,AAH62678,AAH69514,CAA49838,P28325,Q9UCA0 Hs.121489 GDB:136380 MGC71922 protein-coding 1352727 CST6 cystatin E/M The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. 1580863 8995380,9099741,17540367,17099723,17043665,16912163,16565075,16356477,15489334,15466187,14676833,12839564,12477932,11348457,9154125,9007972,8179826,3202964,2029847 1474 NM_001323,AP006287,AY145051,CH471076,AI127639,BC031334,CR456872,U62800,U81233 NP_001314,AAN52757,EAW74487,AAH31334,CAG33153,AAB06566,AAB61305,Q15828,Q540N7,Q6IBD2 Hs.139389 GDB:5215248 protein-coding 1342542 CST7 cystatin F (leukocystatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. 1580863 9632704,18256700,16601115,15752368,15489334,15212960,12477932,12423348,11780052,11079561,10945474,9892200,9007972,8179826,3202964,16189514,9733783 8530 NM_003650,AB029636,AJ510167,AL035661,CH471133,AB015225,AF031824,AF036342,BC015507,BG547285,BT009825,CR541860,CR541878,CR611499 NP_003641,BAB11886,CAD52872,CAB75498,EAX10116,BAA34941,AAC39788,AAC35747,AAH15507,AAP88827,CAG46658,CAG46676,O76096 Hs.143212 GDB:9865774 CMAP protein-coding 736077 CST8 cystatin 8 (cystatin-related epididymal specific) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing identified in mouse is suggested in human based on EST evidence but the full-length nature of putative variants has not been determined. 1580863 1280328,16740002,15489334,12477932,12193387,11780052,10229662,9007972,8179826,7896273,7690606,3202964 10047 O60676,Q6NT25 AW665128,BC069496,BC069536,BC105113,BC105119,NM_005492,NG_000839,AL109954,CH471133,AF059244 AAC14707,AAH69496,AAI05114,AAI05120,O60676,Q6NT25,NP_005483,CAB64234,EAX10144 Hs.121602 GDB:9954928 CRES cystatin 8 protein-coding 1606729 CST9 cystatin 9 (testatin) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. 15060002,12535658 128822 NM_001008693,NG_000839,AL121894,CH471133,AF494536,BC137302,BC137303 NP_001008693,CAH71437,EAX10139,AAM18055,AAI37303,AAI37304,Q5W186 Hs.698020 CLM protein-coding 1322270 CST9L cystatin 9-like The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to mouse cystatin 9. Based on its testis-specific expression, it is likely to have a role in tissue reorganization during early testis development. 15489334,15340161,12975309,12644294,12477932,11780052,11756564,9007972,8179826,7896273,7690606,3202964 128821 NM_080610,NG_000839,AL121894,CH471133,AK312112,AY358615,BC029656 NP_542177,CAC05421,EAX10140,BAG35048,AAQ88978,AAH29656,Q9H4G1,ABM84612,ABM87516,ABM87517 Hs.121554 GDB:11503085 FLJ92394|bA218C14.1 protein-coding 1320029 CSTA cystatin A (stefin A) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. 1580863 10908733,18364739,17985332,17441792,17412564,16969475,16342276,15489334,15175029,15048832,14747998,14503883,12921779,12682854,12581647,12477932,11532941,11451947,11329013,10353845,9769367,9651321,9585570,9522124,9219725,9007972,8999895,7869384,7578072,7541394,6689312,6429090,3122506,3067731,2768224,2442723,2424340,2004763,1940442,1674139,1286667,107703,107702,16189514 1475 NM_005213,AB007774,AC083798,CH471052,CS185576,D88422,AK291308,AV716538,AV717631,BC010379,BG213814,CR456914,X05978 NP_005204,BAA87858,EAW79489,CAJ42757,BAA13609,BAF83997,AAH10379,CAG33195,CAA29398,P01040,Q6IB90,AAA72785 Hs.518198 GDB:128150 STF1|STFA protein-coding 735434 CSTB cystatin B (stefin B) The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). 704404,1580863 17353931,17920138,17701471,17003839,16969475,16939620,16342276,16321512,16205844,15955063,15832773,15489334,15483648,15048832,12573263,12477932,12452481,12215838,11697735,11697734,11571333,11514663,11139332,10830953,10721698,9769367,9342192,9090386,9054946,9012407,9007972,8938434,8596935,8104628,8014475,3902020,3261170,3122506,3053245,2347312,1855589,14503883 1476 NM_000100,AB083085,AF208234,AP001053,AP001752,CH471079,U46692,BC003370,BC010532,BT007040,CR542148,CR591371,L03558 NP_000091,BAC20304,AAF44059,BAA95541,EAX09473,EAX09474,AAA99014,AAH03370,AAH10532,AAP35689,CAG46945,AAA35727,P04080,Q76LA1,ABM81849,ABM84999 Hs.695 GDB:5215249 CST6|EPM1|PME|STFB cystatin b protein-coding 1319516 CSTF1 cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. 1580863 1741396,10477523,1358884,12226669,15878232,15592455,15489334,12477932,11790298,11780052,11459828,11257228,10669729,8626397,7984242,7590244 1477 NM_001033521,NM_001324,NM_001033522,AL121914,CH471077,AA037145,BC001011,BC007425,BE958524,BI547689,BT007138,BU189431,BU189971,BU934383,CF272312,CR592720,CR594364,CR602493,CR616080,CR625288,L02547 NP_001028693,NP_001315,NP_001028694,CAC12718,CAI19328,EAW75548,EAW75549,AAH01011,AAH07425,AAP35802,AAA35691,Q05048,Q5QPD8,ABM83633,ABM83643,ABM86885 Hs.172865 GDB:137081 CstF-50|CstFp50 protein-coding 1351144 CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. 1580863 1741396,11389848,12226669,16713569,16189514,16169070,15772651,15769465,15489334,14749727,14707147,14702039,12773396,12477932,11598190,11113135,10669729,10477523,9885564,9736695,9199325,8945520,8654386,8626397,7984242,7590244,1358884,11257228 1478 NM_001325,CH471115,Z83819,Z95327,AK095684,AW016125,BC017712,BC033135,BT009778,CR593825,CR594312,CR598613,CR603621,CR614161,CR617742,M85085 NP_001316,EAX02818,EAX02819,CAB06072,AAH17712,AAH33135,AAP88780,AAA35724,P33240,ABM82458,ABM85647 Hs.132370 GDB:137080 CstF-64 protein-coding 1320690 CSTF2T cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 11256614,16713569,16189514,15767428,15489334,15302935,12773396,12477932,12408968,11230166,11113135,9734811,9373149,8889548,8125298 23283 NM_015235,AC068062,CH471083,AB014589,AK222574,AL136747,AY130299,BC017185,BC028239,BI962669,BU743103,BX455090 NP_056050,EAW54142,BAA31664,BAD96294,CAB66681,AAN05429,AAH28239,Q9H0L4 Hs.591358 CstF-64T|DKFZp434C1013|KIAA0689 protein-coding 1314208 CSTF3 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 1741396,17353931,7984242,12226669,17081983,16554811,15489334,14749727,12477932,12149458,10669729,7590244,1358884,16189514,15782160,11172707 1479 NM_001326,NM_001033506,NM_001033505,AC131263,AL121926,CH471064,AK290836,BC009792,BC010533,BC059948,BC108319,BG435786,CR608356,U15782 NP_001317,NP_001028678,NP_001028677,CAC48252,EAW68200,EAW68201,EAW68202,EAW68203,BAF83525,AAH09792,AAH10533,AAH59948,AAI08320,AAA61417,Q12996,Q96QK4 Hs.44402 GDB:437112 CSTF-77|MGC117398|MGC43001|MGC75122 protein-coding 1316602 CSTL1 cystatin-like 1 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. 1580863 15489334,12477932,11780052,9007972,8179826,7896273,7690606,3202964 128817 NM_138283,NG_000839,AL096677,CH471133,AY707749,BC117396,BI560738 NP_612140,CAI20157,EAX10148,EAX10149,AAU20813,AAI17397,Q9H114 Hs.352134 GDB:11505848 RCET11|dJ322G13.4 protein-coding 1345230 CSTP1 cystatin pseudogene 1 1480 NG_001020,AL121831 GDB:118778 dJ850N15.1 pseudo 1353811 CSTP2 cystatin pseudogene 2 8179826 1481 NG_000839,AF319563,AL591074 GDB:344759 pseudo 1605157 CT45-1 cancer/testis antigen CT45-1 15905330 541466 NM_001017417,BX537333,AY743709 NP_001017417,CAI43223,AAW66464,Q5DJT8 Hs.460937 CT45 protein-coding 1625091 CT45-2 cancer/testis antigen CT45 15905330,12477932 728911 NM_152582,AL590618,AY743710 NP_689795,CAI41545,AAW66465 Hs.632281 protein-coding 1604675 CT45-3 cancer/testis antigen CT45-3 15905330,12477932 441519 NM_001017435,AL590618,CH471107,AY743711,BC028711 NP_001017435,EAX11718,EAX11719,AAW66466,AAH28711,Q8NHU0 Hs.535080 RP13-36C9.1 protein-coding 1604674 CT45-4 cancer/testis antigen CT45-4 15905330 441520 NM_001017436,AL590618,AK098689,AY743712 NP_001017436,CAI41549,BAC05380,AAW66467,Q8N7B7,AAI48517,AAI53114 Hs.568346,Hs.632281 protein-coding 1604673 CT45-5 cancer/testis antigen CT45-5 15905330,12477932 441521 NM_001007551,AL590618,CH471150,AK292207,AY743713,BC070138 NP_001007552,CAI41550,EAW88487,BAF84896,AAW66468,AAH70138,Q6NSH3 Hs.535081 protein-coding 1605158 CT45-6 cancer/testis antigen CT45-6 15905330 541465 NM_001017438,XM_001716054,AL590618,AY743714 NP_001017438,XP_001716106,CAI41551,AAW66469,AAI56862 Hs.676560 protein-coding 1605557 CT47.11 cancer/testis CT47 family, member 11 16382448,12477932 255313 NM_173571,AL670379,AI024600,BC029540,DB471077 NP_775842,CAI42057,AAH29540,Q5JQC4 Hs.522775 protein-coding 1346058 CTAA1 cataract, anterior polar 1 1497515 1483 GDB:265299 1343436 CTAA2 cataract, anterior polar 2 885266 1484 GDB:265300 1344197 CTAG1A cancer/testis antigen 1A CTAG1A is an identical copy of the CTAG1B gene (MIM 300156) (Aradhya et al., 2001 [PubMed 11709543]).[supplied by OMIM] 17137291,16596224,15772651,15489334,12477932,12445278,12065688,11709543,11397121,11351307,10523621,9759882,9626360,9605863,9050879 246100 BC130362,BC130364,NM_139250,AF277315,AX024691,AX024693,AF038567,AJ003149,AJ275978,BC114933,U87459 AAI14934,AAI30363,NP_640343,AAL27013,CAC08999,CAC09000,AAD05202,AAD05203,CAA05908,CAB76945,AAI30365,AAB49693,P78358,AAI60040 Hs.534310,Hs.705919,Hs.708895 ESO1|LAGE2A protein-coding 1353571 CTAG1B cancer/testis antigen 1B Cancer/testis antigens, such as CTAG1B, are expressed in a variety of malignant tumors but soley in testis among normal adult tissues (Yoshida et al., 2006 [PubMed 16596224]).[supplied by OMIM] 10523621,18396787,17640060,17625806,17488334,17208940,17137291,17023585,16951317,16751374,16596224,16140944,16114059,15772651,15671442,15521719,15475443,15252201,15240519,15069548,15026363,14583496,14559844,14522938,14503968,12889868,12853579,12477932,12452034,12445278,12209997,12138174,12065688,11782380,11709543,11397121,11351307,11256614,11120859,10901371,9759882,9626360,9605863,9050879 1485 U87459,XM_001719185,AF277315,AJ275977,CH471172,AF038567,AJ003149,AJ275978,BC114933,BC130362,BC130364,NM_001327 AAI30365,AAB49693,O95146,P78358,NP_001318,XP_001719237,AAL27014,CAB76943,CAB76944,EAW72674,AAD05202,AAD05203,CAA05908,CAB76945,AAI14934,AAI30363 Hs.534310 CTAG|CTAG1|ESO1|LAGE-2|LAGE2B|NY-ESO-1 protein-coding 1344888 CTAG2 cancer/testis antigen 2 1580863 11256614,18237105,17899192,16446548,16381901,15540228,15489336,15489334,15067093,15061963,14559844,14522938,12538712,12477932,12445278,11709543,11120859,11076863,10399963,9626360,15765097,9618514 30848 NM_020994,NM_172377,XM_001714637,AF277315,AJ223093,AX024685,AX024687,AX024689,CH471172,AJ012833,AJ012834,AJ012835,AJ223040,AJ223041,AY679088,AY679089,BC002833,BC113998,BC128045 NP_066274,NP_758965,XP_001714689,AAL27015,CAA11116,CAA11117,CAC08996,CAC08997,CAC08998,EAW72668,EAW72669,CAA10193,CAA10194,CAA10195,CAA10196,CAA10197,CAA11043,CAA11044,AAV98584,AAV98585,AAH02833,AAI13999,AAI28046,O75638,O95987,CAL37904,CAL38372,CAL38572,CAL38714 Hs.87225 GDB:10796855 CAMEL|ESO2|LAGE-1|LAGE-2b|MGC138724|MGC3803 protein-coding 1349885 CTAGE1 cutaneous T-cell lymphoma-associated antigen 1 1580863 12839582,12477932,11181995,11149944 64693 NM_172241,AC099849,CH471088,AF177229,AF273058,BC031065,BC070128,BC132871 NP_758441,EAX01138,AAG23843,AAK63198,AAH31065,AAI32872,Q8NEG8,Q96RT6,Q9HC47 Hs.406709 CTAGE-1|CTAGE-2 protein-coding 1343019 CTAGE3 CTAGE family, member 3 1580863 12839582,11149944 220112 NG_006514,AL162377,AF338231 AAN77608,Q8IX95 Hs.623891 CTAGE-3 pseudo 1342761 CTAGE4 CTAGE family, member 4 12839582,12477932,11149944,9847074 100128553 XR_038147,XM_001726736,XR_039265,XM_001713619,AC004889,AF338232 XP_001726788,XP_001713671,AAN77609 Hs.591829 cTAGE-4 protein-coding 1351524 CTAGE5 CTAGE family, member 5 1580863 9356211,17081983,16344560,15489334,14702039,12839582,12477932,11803467,11472066,11149944,8889548 4253 NM_203356,NM_005930,NM_203355,AL132639,CH471078,AA731729,AB209528,AF338233,AF338234,AK055791,AK091252,AL832233,AL833415,AW451965,BC029513,NM_203354,BC039017,BC051363,BC064355,BM929588,BQ424957,BX367676,BX640994,BX648014,CD102996,CD512382,CR594736,CR610706,CR621236,CV809109,DA072098,U73682,U94780 O15320,Q05BM1,Q4G155,Q59FD2,Q6MZN2,Q86TF6,Q96N90,NP_976229,NP_976231,NP_005921,NP_976230,EAW65804,EAW65805,EAW65806,EAW65807,EAW65808,EAW65809,EAW65810,EAW65811,EAW65812,EAW65813,EAW65814,EAW65815,EAW65816,BAD92765,AAN77610,AAN77611,BAB71015,AAH29513,AAH39017,AAH51363,AAH64355,CAE45997,AAB86589,AAB86593 Hs.509200,Hs.540038 MEA6|MGEA|MGEA11|MGEA6 protein-coding 1347858 CTAGE6 CTAGE family, member 6 737633,1580863 15489334,12477932 737633 340307 BC101324,BC110410,NM_178561,AC106862,CH236959,BC043153,BC101323 AAI01324,AAI01325,Q86UF2,NP_848656,AAH43153 Hs.676333 MGC41943 protein-coding 1344677 CTAGE7 CTAGE family, member 7 414233 1342835 CTAGEP CTAGE family pseudogene 737633 12477932 737633 119437 NG_006973,AL139123,BC036527 AAH36527 Hs.620802 MGC33437 pseudo 732729 CTBP1 C-terminal binding protein 1 This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. 1580863 8440238,16609867,7479821,18354494,18323776,18212045,18184656,18086895,17967884,17662696,17538025,17431394,17157814,17028196,16840720,16804902,16762039,16740659,16547505,16481748,16292346,16287852,16122695,16061479,16036112,15834423,15831101,15708980,15705784,15592428,15542832,15525529,15489334,15188402,15060175,14701752,14645520,14567915,12829790,12769861,12711682,12700765,12679040,12565893,12477932,12444977,12419229,12372828,12052894,11864595,11739372,11590170,11583618,11509661,11373277,11328817,11313276,11022042,10995736,10766745,10764811,10567582,10438528,10369679,10359772,10196224,9858600,9650586,9535825,9479502,16189514,11568182,9824164,12714599,11959865,12867035,11462050 1487 NM_001328,NM_001012614,AC092535,CH471131,AF091555,AL137653,BC011655,BC053320,BC064333,BC072021,BC098400,BM989059,BU553431,CR605200,CR608612,U37408 NP_001319,NP_001012632,AAY40989,EAW82599,EAW82600,EAW82601,EAW82602,AAD14597,CAB70861,AAH11655,AAH53320,AAH72021,AAH98400,AAC62822,Q13363,Q4KMQ8,Q4W5N3,Q6IP95,Q7Z2Q5,Q9NSY3,ABM82844,ABM86028 Hs.208597,Hs.594321 GDB:6837516 BARS|MGC104684 protein-coding 68535 CTBP2 C-terminal binding protein 2 This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. 1580863 9479502,18264096,18184656,17546044,17023432,16356938,16189514,15542832,15489334,15146197,15060175,12711682,12556451,12477932,11864595,11504872,11163272,10764811,10756197,10567582,10438528,9858600,9724649,7479821,12867035 1488 NM_001083914,NM_001329,NM_022802,AL157888,AL596261,AL731571,CH471066,AF016507,AF222711,AK290390,AL833398,BC002486,BC037900,BC047018,BC052276,BC072020,BQ933925,BT007012,CN353451,DQ250324 NP_001077383,NP_001320,NP_073713,CAH72472,CAI16100,CAI16101,CAI16102,EAW49247,EAW49249,EAW49250,AAC39603,AAG45951,BAF83079,CAH10590,AAH02486,AAH37900,AAH47018,AAH52276,AAH72020,AAP35658,ABB82238,P56545,Q1WIS0,Q5SQP8,Q8IY44 Hs.501345 GDB:6837517 protein-coding 1351227 CTBS chitobiase, di-N-acetyl- 728411,1580863 16794344,12477932,11907625,10336991,7606925,2751306,1549114,1527079,15252009 728411 1486 NM_004388,AF085706,AL359762,CH471097,AK075423,BC024007,BC065191,BC096752,BC126333,BC126335,CR590327,CR595959,CR602282,CR615615,M95767 NP_004379,AAC35852,CAH70206,CAH70207,EAW73230,EAW73231,EAW73232,EAW73233,AAH24007,AAH96752,AAI26334,AAI26336,AAA35684,Q01459,Q5VX50,Q5VX51,Q8TC97 Hs.706743 GDB:133038 CTB protein-coding 733105 CTCF CCCTC-binding factor (zinc finger protein) This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. 1580863 16989720,16731911,16230345,16140944,16107875,15958555,15941718,15731119,15670593,15489334,15471867,15454938,15361875,15304340,15096508,15084242,14759373,14716017,14702039,14645543,14645507,14503807,12960026,12878173,12787766,12524457,8649389,10734189,16949368,9591631,9407128,18347100,18237772,18235444,18021171,17827499,17583694,17382889,17267480,17081983,12477932,12461525,12417987,12203779,12191639,12099698,12075007,12054881,11997516,11971967,11827452,11782357,11748221,11743158,11525835,10906122,10839547,10839546,10625678,10458613,15669143 10664 NM_006565,AC009095,AC027682,AF145477,CH471092,CQ834784,AB209793,AI753629,AK093395,BC014267,BT009915,U25435 NP_006556,AAF31318,EAW83142,EAW83143,EAW83144,EAW83145,EAW83146,CAH05607,BAD93030,AAH14267,AAP88917,AAB07788,P49711,Q53XI7,Q59EL8,ABM86760,ABW03820 Hs.368367 GDB:9958110 protein-coding 1313529 CTCFL CCCTC-binding factor (zinc finger protein)-like CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. 1580863 16854382,16140944,12477932,12191639,12011441,11780052,14578343,17363524,17062669,18195709,18095639,17962299,17957795 140690 NM_080618,AL035541,AL160176,CH471077,AF336042,AK128070,AY071919,BC060763,BC130486,DQ294738,DQ778108,DQ778109,DQ778110,DQ778111,DQ778112,DQ778113,DQ778114,DQ778115,DQ778116,DQ778117,DQ778118,DQ778119,DQ778120,DQ778121,DQ778122,DQ778123,DQ778124,DQ778125,DQ778126,DQ778127,DQ778128,DQ778129,DQ778130,DQ778131 NP_542185,EAW75516,EAW75517,EAW75518,AAM28645,AAL61541,AAI30487,ABB92839,ABH10090,ABH10091,ABH10092,ABH10093,ABH10094,ABH10095,ABH10096,ABH10097,ABH10098,ABH10099,ABH10100,ABH10101,ABH10102,ABH10103,ABH10104,ABH10105,ABH10106,ABH10107,ABH10108,ABH10109,ABH10110,ABH10111,ABH10112,ABH10113,Q8NI51 Hs.131543 GDB:11505850 BORIS|CTCF-T|MGC163358|dJ579F20.2 protein-coding 1352600 CTD Coats disease 1283 GDB:265283 1323374 CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 This gene encodes a protein which interacts with the carboxy-terminus of transcription initiation factor TFIIF, a transcription factor which regulates elongation as well as initiation by RNA polymerase II. The protein may also represent a component of an RNA polymerase II holoenzyme complex. Alternative splicing of this gene results in two transcript variants encoding 2 different isoforms. 1580863 9765293,12676794,18294453,17081983,16964243,15723517,15670829,15489334,15302935,14576433,14517542,12732728,12591941,12591939,12578358,12560496,12477932,12370301,12185079,12036313,11273209,10938286,10439962,10385623,9822634,9159119,15893730,9405607 9150 NM_004715,NM_048368,AC021594,AC068473,CH471117,AF081287,AF154115,BC015010,BC032515,BC047999,BC052576,BC063447,BX103692,CF593225,CR602644 NP_004706,NP_430255,EAW66628,EAW66629,EAW66630,EAW66631,EAW66632,AAC64549,AAD42088,AAH15010,AAH52576,AAH63447,Q9Y5B0 Hs.465490 GDB:9958911 CCFDN|FCP1 protein-coding 1313770 CTDSP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 1580863 10967134,17085434,16189514,15681389,15489334,14743429,12721286,12477932,11950066 58190 NM_021198,NM_182642,AC021016,AF229163,AX017844,AX017988,AF217969,AF229162,AF258582,AK075090,AY279529,AY279530,BC012977,CR590321,CR598368,CR598966,CH471063 NP_067021,NP_872580,AAG15404,EAW70615,EAW70616,EAW70617,EAW70618,AAG17212,AAG15402,AAG23785,BAC11394,AAP34397,AAP34398,AAH12977,Q7Z5Q3,Q7Z5Q4,Q8NC13,Q9GZU7,Q9HBT0,ABZ92407 Hs.444468 NLIIF|SCP1 protein-coding 1342553 CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 1580863 8673473,8090779,9315096,16724108,16344560,15489334,15146197,12721286,12477932 10106 NM_005730,AC083805,AC121759,CH471054,AF000152,AF022231,AK226076,AK291289,AY279531,BC018922,BC065920,CN313995,CR594177,DB001093,U81556 NP_005721,EAW97081,EAW97082,EAW97083,EAW97084,EAW97085,EAW97086,EAW97087,EAW97088,EAW97089,AAB71816,AAD09331,BAF83978,AAP34399,AAH65920,AAB39318,O14595,Q53ZR2,Q99809 Hs.524530 OS4|PSR2|SCP2 protein-coding 1345284 CTDSPL CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like 1580863 15051889,12721286,12543795,9179494,15009212,12052871,11884399,11572868,11278802,11145967,10617616 10217 NM_001008392,NM_005808,AC093415,AC105752,CH471055,AI143812,AI192993,AJ575644,AJ575645,AY279532,AY364238,CR611541,D88153 NP_001008393,NP_005799,EAW64502,EAW64503,EAW64504,EAW64505,CAE11804,CAE11805,AAP34400,AAQ76797,BAA21667,O15194,Q3ZTU0,AAI66643 Hs.475963 C3orf8|HYA22|PSR1|RBSP3|SCP3 protein-coding 1605073 CTDSPL2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 16344560,14702039,12477932,11042152 51496 NM_016396,AC009996,AC025043,AC025430,CH471082,AF161478,AF161543,AK001385,AK226094,AK291230,AY364237,BC018623,BC035744,CR627421,DA995235,DQ128104 NP_057480,EAW77265,EAW77266,AAF29093,AAF29030,BAA91664,BAF83919,AAQ76796,AAH18623,AAH35744,CAH10508,AAZ42188,Q05D32,ABM85014,ABW03674 Hs.709889 FLJ10523|HSPC058|HSPC129 protein-coding 1350898 CTF1 cardiotrophin 1 1580863,1626411,1626410 8833032,7738033,7862649,17979974,17940213,17483238,15489334,15339920,15219667,12707269,12477932,12234945,11834704,11058912,8755479 1626411,1626410 1489 NM_001330,AC135048,CH471192,U43033,BC036787,BC049822,BC064416,U43030 NP_001321,EAW52192,AAD12173,AAH36787,AAH64416,AAA85229,Q16619,Q5U5Y7 Hs.483811 GDB:567078 CT-1|CT1 protein-coding 1602017 CTF2P cardiotrophin 2 pseudogene 15051883 647088 NG_005797,AC135048,AY518206 NP pseudo 1606282 CTF8 chromosome transmission fidelity factor 8 homolog (S. cerevisiae) This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternative splicing results in multiple variants encoding different isoforms. This gene has a pseudogene on chromosome X. 16344560,15342556,15146197,12930902,12766176,12477976,12477932,11389843,16189514 54921 AF525164,AK000407,AL833902,BC018700,BC069059,BM820172,BP195395,BU631276,CB135653,CB147424,CN388626,CR600589,CR604324,CR605139,CR618875,DA076128,DB188088,NM_001040144,NM_001039690,NM_001040146,AC009027,CH471092 EAW83250,AAQ08897,BAA91144,CAD38758,AAH18700,Q8WV66,NP_001035234,NP_001034779,NP_001035236 Hs.85962 DERPC|FLJ20400 protein-coding 731013 CTGF connective tissue growth factor 1580863,734846 9371786,10809757,17192487,17170128,17119035,17116388,17093396,16899928,16889607,16877704,16858645,16820572,16813525,16790529,16731742,16684954,16571622,16543635,16528248,16501850,16482098,16457822,16373901,16344560,16291159,16270194,16247469,16204411,16186174,16044512,15956925,15950619,15941869,15940639,15857887,15820145,15761249,15761189,15703175,15598883,15536170,15526358,15459777,15377500,15345671,15298857,15247510,15135656,15113833,15111539,15090860,15053922,18212329,18172013,17951996,17951630,17944991,17922682,17915216,17908800,17881752,17876891,17786299,17765657,17681742,17673559,17671176,17657819,17622321,17602195,17580150,17550972,17498677,17437852,17399955,17399683,17375628,17239853,17239539,17224075,18264937,17215322,15045137,15041728,15039132,15003992,14996858,14988298,14758550,14702039,14684735,14633859,14585398,14574404,14512169,12951326,12941731,12888575,12831056,12811819,12787426,12760970,12668285,12595495,12571253,12553878,12535930,12496395,12477932,12470643,12398938,12297288,12239232,12218048,12217862,12150969,12114504,12036876,12016149,11967989,11897682,11855859,11818516,11751417,11744618,11697887,11532378,11502477,11101692,10614647,10457363,10350062,10204117,9927660,9242708,9054739,1925598,1654338,1334251,1293144 734846 1490 CR541734,CR541759,DA552292,M92934,U14750,X78947,NM_001901,AF316366,AF316367,AF316368,AL354866,CH471051,DQ097843,X92511,AF127918,AK092280,AK125220,AK290884,AY395801,AY550024,BC087839,BT019794,BT019795 CAG46534,CAG46559,AAA91279,AAA75378,CAA55544,P29279,Q5M8T4,Q6FHL8,Q9UDL6,AAV38598,NP_001892,AAK60505,AAK60506,AAK60507,CAC44023,EAW48038,EAW48039,AAZ29611,CAA63267,BAF83573,AAQ95223,AAS55639,AAH87839,AAV38597 Hs.591346 GDB:134651 CCN2|HCS24|IGFBP8|MGC102839|NOV2 protein-coding 1344826 CTGLF1 centaurin, gamma-like family, member 1 737633 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.536192,Hs.656384 MRIP2 protein-coding 1348672 CTGLF10P centaurin, gamma-like family, member 10 pseudogene 653234 NG_005805,AL445201 bA358L16.1 pseudo 1348096 CTGLF11P centaurin, gamma-like family, member 11 pseudogene 653259 NG_005806,AL603965 bA145E20.1 pseudo 1350681 CTGLF12P centaurin, gamma-like family, member 12 pseudogene 414224 NG_005804,AL603966 bA164N7.2 pseudo 1348213 CTGLF2 centaurin, gamma-like family, member 2 12477932 729092 XM_001722569,XM_001722765,AC022400,AC073389 XP_001722621,XP_001722817 Em:AC073389.1 protein-coding 1349976 CTGLF3 centaurin, gamma-like family, member 3 12477932 414189 XM_001713643,NM_001077665,AL442003,BC131545 XP_001713695,NP_001071133,CAH72489,Q5VW22 Hs.536158 bA324H6.1 protein-coding 1353426 CTGLF4 centaurin, gamma-like family, member 4 653268 NM_001077685,AL589822 NP_001071153,CAH70062,Q5VUJ5 Hs.528346 bA109G10.1 protein-coding 1344869 CTGLF5 centaurin, gamma-like family, member 5 12477932 728404 NM_001077686,XM_001719596,AL672187,BC051717 NP_001071154,XP_001719648,CAI16094,AAH51717,Q5SRD3 Hs.536192 protein-coding 1348214 CTGLF6 centaurin, gamma-like family, member 6 14702039,12477932 642517 XM_001716810,AL591684,AK160375,BC020871,BC032492,BC075841 XP_001716862,CAH72201,BAD18718,Q5VTM2 Hs.645346 FLJ00312|bA301J7.2 protein-coding 1349982 CTGLF7 centaurin, gamma-like family, member 7 728127 XM_001714786,AL391137 XP_001714838,CAI12206,Q5T2P9 Hs.463017 bA144G6.2 protein-coding 1353769 CTGLF8P centaurin, gamma-like family, member 8 pseudogene 728608 NG_005864,AL450334 bA556L1.5 pseudo 1345513 CTGLF9P centaurin, gamma-like family, member 9 pseudogene 728005 NG_005807,AL731733 bA548K23.1 pseudo 732084 CTH cystathionase (cystathionine gamma-lyase) This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 1600763,1600761,1300048,1359024 17311259,16710414,16189514,15489334,15347670,15151507,12574942,12477932,9373149,8125298,1339280 1600763,1600761,1359024 1491 NM_001902,NM_153742,AL354872,CH471059,AK223376,BC015807,BT006882,S52028,S52784 NP_001893,NP_714964,EAX06450,EAX06451,BAD97096,AAH15807,AAP35528,AAB24699,AAB24700,P32929,Q53FB3,Q53Y79 Hs.19904 GDB:119086 MGC9471 protein-coding 1354028 CTHM cono-truncal heart malformation 1492 GDB:439247 1352911 CTHRC1 collagen triple helix repeat containing 1 CTHRC1 is specifically expressed in vascular calcifications of carotid artery lesions and may contribute to vascular remodeling of injured arteries (Pyagay et al., 2005 [PubMed 15618538]).[supplied by OMIM] 1580863 16778098,15618538,15489334,15340161,12975309,12477932 115908 NM_138455,AC012213,AC069351,CH471060,AF395488,AK130063,AY136825,AY358914,BC014245,BC021025,CR592899,CR594803,CR596030,CR605392,CR612318 NP_612464,EAW91874,EAW91875,EAW91876,AAO17919,AAN15749,AAQ89273,AAH14245,Q96CG8 Hs.405614 GDB:11510023 protein-coding 737465 CTLA4 cytotoxic T-lymphocyte-associated protein 4 This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. 1300386,1300385,1358538,1300388,1300387,1580863,1300299 3220103,18466531,18466513,18462498,18449568,18448390,18443194,18396212,16189655,16178018,16137550,16136471,16133179,16112024,16101935,16081581,16046318,16045690,16040335,16034471,16025348,16025255,16015687,16005527,16002699,15994283,15973119,15961581,15953005,15943829,15940668,15928253,15904974,15888380,15888281,15881277,15860238,15841095,15818712,15815621,15814706,15812539,15790344,15785242,15784471,15711022,15708894,15708585,15688186,15657618,15652423,15649153,15640608,15629882,15621571,15617700,15610363,15583985,15579786,15549146,15546339,15540511,15517637,15507878,15494488,15489334,15486062,15485777,15476165,15452244,15378793,15356063,15334480,15305888,15301861,15248219,15240634,15237707,15218356,15208156,15199380,15182328,15180809,15140570,15138458,18378005,18371160,18361934,18341485,18337305,18328194,18296657,18292987,18292106,18282809,18223493,18200060,18174230,18095376,18093182,18088253,18081831,18076363,18059468,18056853,18056379,18047932,18041714,18031393,18021981,18000051,17970785,17970696,17949264,17942509,17941906,17938902,17937736,17920697,17919231,17846597,17825114,17785820,17785798,17767555,17712998,17712006,17678726,17666451,17659059,17652883,17558709,17526951,17524498,17521325,17504905,17482523,17469155,17465502,17459075,17456215,17439880,17427759,17426089,17384200,17341658,17341301,17287608,17284227,17280620,17269936,17257313,17225925,17209142,17197413,17192819,17154080,17150279,17138053,17130562,17130532,17082597,17079164,17048303,17020648,17015751,17005693,17004266,17000707,16980072,16972006,16931720,16926542,16916658,16893393,16891094,16872485,16869018,16868438,16849765,16831326,16818761,16797372,16792673,16788246,16775619,16769128,16767670,16756466,16750991,16712655,16708397,16671945,16670525,17334650,16641053,16640877,16638702,16629714,16620985,16614815,16611252,16604497,16571085,16567828,16564528,16527605,16512757,16509873,16504663,16489681,16476059,16445777,16417239,16405845,16393254,16390390,16380915,16378074,16373368,16362660,16352685,16325273,16313305,16299026,16279844,16276008,16259622,16248997,16237465,16229750,16227604,16206510,12574361,12559633,12555221,12540792,12534352,12515273,12508774,12507781,12477932,12465728,12458055,12458054,12455815,12444128,12393538,12384790,12355442,12297345,12244107,12225905,12225635,12202150,12195015,12185534,12173468,12135671,12121283,12114354,12097196,12071705,12060749,12058260,12050220,12047362,12047357,12032199,12030917,12022356,12021313,12021137,12007590,12003670,11994459,11978629,11936461,11916172,11900275,11886967,11857062,11842815,11826754,11826026,11788096,11776689,11771526,11752507,11751964,11735222,11726229,16198253,15132716,15128776,15114591,15061706,15059373,15055474,15022315,15019292,15019278,15018649,14986169,14975605,14751028,14730632,14720259,14715845,14709415,14705224,14678452,14675397,14629291,14620161,14616291,14567561,14566095,14522090,14505215,12942714,12914522,12911663,12894875,12873588,12864988,12858454,12838528,12826605,12794109,12791095,12780750,12732844,12724780,12717632,12696006,12618861,12610047,12606712,12582153,11681491,11678454,11685455,11678447,11606170,11583755,11583591,11580858,11555351,11522687,11477480,11426024,11327371,11288988,11286636,11279501,11239948,11167807,11162656,11158025,11128657,11098935,11092697,11086105,11081251,11021528,10924276,10903931,10842319,10831323,10799854,10556814,10493833,10475192,10372542,10369864,10189842,9973379,9813138,9812899,9724847,9712716,9259273,9256472,9228944,9200449,8817351,8638161,7807015,7694153,7559643,7545666,7513726,1714933,1713603,17023015,10618429,15610849 1300386,1300385,1358538,1300388,1300387,1300299 1493 AF486806,AY209009,AY792514,BC069566,BC070162,BC074842,BC074893,BG058720,CD639535,L15006,U90273,NM_005214,NM_001037631,AC010138,AF142144,AF316875,AF411058,CH471063,DQ357942,M37243,M37244,M37245,M74363,AF414120 AAL96664,AAO17066,AAV66331,AAH69566,AAH70162,AAH74842,AAH74893,AAB59385,AAD00698,O95653,P16410,Q0Q5F0,Q5S005,Q6GR94,Q8TDA6,Q9BZK2,AAL07473,NP_005205,NP_001032720,AAX93176,AAF02499,AAK13084,AAL40932,EAW70354,ABC67470,AAA52773,AAA52127 Hs.247824 GDB:119818,GDB:1211175 CD152|CELIAC3|CTLA-4|GSE|IDDM12 cd152 antigen protein-coding 1351108 CTM cataract, Marner GDB:119819 1348842 CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa 1580863,2289491,2289791,2289792,2289795,2289798,2289799,2289804,2289811,2289793,2289796,2289797 9700171,8323564,18078809,17760743,17668349,17576040,17081983,16807684,16798615,16344560,16322481,16273278,15948257,15695815,15561718,15541354,15489334,15302935,15297182,14755240,14702039,14599963,12532469,12477932,12003790,11907041,11179419,11069925,10635315,10508479,10026224,9512503,9266853,9110993,8404069,8188230,7945318,7790378,7706414,12477722,7650039,1924379,1904011,11883950,10420987,14625392,12604612,12640114,9762469,7954478,12808048,14567991,16189514,7651399,9434630,10910767,7542250,8259519,11080149,12417594,15294866 2289491,2289791,2289792,2289795,2289798,2289799,2289804,2289811,2289793,2289796,2289797 1495 NM_001903,AC011405,AC034243,AF102803,AY884207,CH471062,AK055751,AK094151,AU141929,BC000385,BC031262,BU624488,CR591756,D13866,D14705,L22080,L23805,U03100 NP_001894,AAC99459,AAW56940,EAW62122,EAW62123,EAW62124,AAH00385,AAH31262,BAA02979,BAA03530,AAA35502,AAA86430,AAA18949,P35221,Q8N1C0,ABM82176,ABM85361 Hs.534797 GDB:141920 CAP102|FLJ36832 2293448 PRSTS211_H protein-coding 1312865 CTNNA2 catenin (cadherin-associated protein), alpha 2 1580863 8432524,15815621,15489334,12477932,1638632 1496 AC008067,AC010975,AC011741,AC011746,AC016670,AC016716,AC093322,AC096573,AC096753,AC104780,CH471053,AK127226,AL708938,BC040458,BC052996,BX537769,BX648368,CR604799,M94151,NM_004389 NP_004380,AAY15073,AAX93241,AAY15008,AAY14758,AAY14763,AAX88946,EAW99563,EAW99564,EAW99565,AAH40458,AAH52996,CAD97832,AAA58407,P26232,Q49AD3,Q7Z3L1 Hs.167368 GDB:137725 CAP-R|CAPR|CTNR|DKFZp686H02198 protein-coding 1320341 CTNNA3 catenin (cadherin-associated protein), alpha 3 1580863 11590244,18163421,17761686,17535849,17366617,17209133,17081983,16199552,15533819,15489334,15342556,15302915,15164054,15075440,14559775,12596047,12477932 29119 NM_013266,NM_001127384,AC016819,AC018979,AC020642,AC022017,AC022029,AC022401,AC022534,AC026394,AC069536,AF282692,AL139240,AL592075,AL607022,AL607023,AL713957,AL731538,AL731549,CH471083,AF091606,AK289756,AK313882,AY198183,BC022004,BC030646,BC065819,BP362015 NP_037398,NP_001120856,AAQ14328,CAI13388,CAI13390,CAI16316,CAH73988,EAW54249,EAW54250,EAW54251,AAF21801,BAF82445,BAG36608,AAO43101,AAH22004,AAH30646,AAH65819,Q5SW22,Q5SW23,Q6XYS1,Q8WW10,Q9UI47 Hs.660362 GDB:10796169 MGC26194|MGC75041|VR22 protein-coding 1322895 CTNNAL1 catenin (cadherin-associated protein), alpha-like 1 17952117,15489334,15164053,14993280,14702039,14690447,12694354,12477932,12270917,11768226,10542337,9806841,9373149,8125298 8727 NM_003798,AF134888,AL354797,AY523969,CH471105,AF006070,AF030233,AF080071,AF135021,AK022539,AK022834,AK022926,AK223230,AL050016,BC117208,BC117234,CR600465,CR607617,CR609649,U97067 NP_003789,AAF07820,AAF07821,CAI39470,CAI39471,CAI39472,CAI39473,AAR92479,EAW59035,EAW59036,EAW59037,AAC26011,AAC83460,AAC69576,AAF07819,BAD96950,CAB43238,AAI17209,AAI17235,AAC27693,Q5JTQ6,Q5JTQ9,Q9UBT7 Hs.58488 GDB:9956758 CLLP|alpha-CATU protein-coding 1345796 CTNNAP1 catenin (cadherin-associated protein), alpha pseudogene 1 8404069,7601473 1498 NG_001110,AC091981,Z37994 GDB:437169 pseudo 733705 CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa Beta-catenin is an adherens junction protein. Adherens junctions (AJs; also called the zonula adherens) are critical for the establishment and maintenance of epithelial layers, such as those lining organ surfaces. AJs mediate adhesion between cells, communicate a signal that neighboring cells are present, and anchor the actin cytoskeleton. In serving these roles, AJs regulate normal cell growth and behavior. At several stages of embryogenesis, wound healing, and tumor cell metastasis, cells form and leave epithelia. This process, which involves the disruption and reestablishment of epithelial cell-cell contacts, may be regulated by the disassembly and assembly of AJs. AJs may also function in the transmission of the 'contact inhibition' signal, which instructs cells to stop dividing once an epithelial sheet is complete.[supplied by OMIM] 734850,1599632,1599637,1580863,2289674,2289488,2289813,2289814,2289815,2289817,2289818,2289828,2289792,2289829,2289830,2289831,1643593,2289794,2289832,2289833,2289834,2289836,2289837,2289816,2289835,2289840,2289843,1581696,2293188 15572661,10773885,10192393,9601641,14679171,16188939,7806582,11955436,12000790,12820959,15327769,16753179,12072559,9065401,10837025,18385740,18330089,18316596,18311776,18309246,18285264,18282277,18276111,18256147,18242184,18218837,18206728,18199649,18193033,18165946,18086858,18077326,18048388,18044981,18008331,18006853,18006828,17996206,17992121,17982235,17977597,17962810,17952864,17950943,17949810,17914096,17905526,17903198,17875931,17854061,17852416,17851558,17785436,17764657,17724465,17721184,17710160,17693578,17679465,17673525,17663505,17641414,17638895,17637758,17621269,17601559,17595165,17592150,17579030,17576040,17558858,17551084,17526942,17522055,17513457,17510384,17510365,17507638,17505512,17504383,17466258,17454753,17429067,17393422,17383052,17341890,17289029,17284619,17259169,17242406,17241872,17240357,17229887,17219201,17203186,17172473,17168211,17160944,17143299,17128412,17121828,17090604,17090192,17081983,17052462,17050667,17030184,17018282,17008323,16953230,16952352,16945989,16942611,16930546,16865250,16843107,16830381,16815294,16798748,16786128,16772034,16760136,16756720,16730693,16724116,16717102,16712787,16707106,16696969,16688229,16644723,12438242,12432063,12420223,12417602,12413882,12408825,12408824,12398896,12389996,12377785,12370829,12297840,12297051,12297048,12235125,12219004,12209999,12209953,12189238,12183361,12169098,12151522,12130512,12127563,12124804,12114015,16628468,16621789,16574648,16565090,16513652,16507986,16501564,16496348,16476742,16474376,16465411,16462762,16442529,16428447,16407829,16382042,16378739,16378715,16371504,16356174,16344560,16344550,16343437,16328013,16291872,16254206,16239965,16204248,16199882,16163548,16133456,16132582,16126725,16124054,16114033,16084063,16082250,16038041,16012954,15987741,15972952,15958533,15927956,15163629,15158448,15149841,15138556,15126105,15111320,15110721,15102686,15082903,15077166,15064706,15060161,15023525,15003504,14993280,14985333,14977843,14960280,14766232,14742711,14702039,14660579,14637149,14633602,14595118,14567991,14563838,14561767,14520463,12972427,12970740,12969793,12952940,12937339,12927518,15194432,15899904,15905404,15896469,15888491,15853773,15837931,15832407,15829968,15817486,15806138,15791567,15790758,15781969,15737630,15728254,15698401,15696778,15695815,15694380,15684397,15670774,15668893,15665104,15660698,15654359,15591320,15588985,15572674,15557107,15523694,15520370,15514031,15500294,15492040,15489334,15455387,15381903,15381698,15331612,15304487,15294866,15289833,15279902,15254684,15239100,15231748,15215241,12920240,12917489,12907143,12883680,12874278,12861022,12857869,12830000,12824925,12810642,12808048,12800191,12771132,12748295,12737446,12734196,12729800,12712206,12708483,12700239,12695331,12694354,12692418,12679314,12657639,12640114,12634428,12618757,12606944,12606575,12604612,12603528,12592400,12588987,12587534,12575848,12571228,12556519,12556497,12554773,12532469,12532436,12531901,12515622,12501215,12482967,12478897,12477932,12466281,12464179,12452049,12446675,11836379,11834740,11831984,11826105,11821434,11819825,11818547,11795941,11790773,11751639,11747475,11744694,11734550,11716761,11713476,11713475,11703283,11590244,11533658,11532957,11527961,11483589,11389840,11389839,11309300,11279024,11274246,11266540,11179419,11168528,11157977,11152665,11136974,11136230,11080149,11035789,11836555,9482734,9348292,9294210,9245795,9233779,9214391,9139698,9110993,9065402,8838805,8757136,8663237,8227214,7890674,7829088,7736793,7706414,7702605,7642713,9762469,7954478,14625392,12061792,11712088,11254878,11245482,9819408,9535896,9405455,7542250,12639940,12805222,9734785,12657632,10491393,15574752,17353931,15256534,14593076,12944908,12799378,11792709,12628243,11972058,12111402,12107263,12095414,12077367,12070348,12060769,12052822,12051714,12045208,12037680,12027456,12019147,12000714,11973335,11967263,11957146,11955446,11953860,11950845,11940574,11939410,11930117,11929826,11921277,11920497,11916967,11893906,11889072,11877440,11857309,11856748,11839663,11251183,8259519,10341227,9852041,12750561,15782138,9434630,10910767,15735679,15542433,15592430,15525529,15327767,15829978,14706341,15735746,11113628,9632714,10966653,10951583,10947987,10898789,10896949,10862698,10861224,10816572,10806215,10801826,10772923,10769211,10753743,10706604,10679188,10666372,10655994,10644691,10635315,10620020,10488109,10477752,10462524,10435629,10398436,10391090,10381631,10187801,10092585,10037471,10029089,10021369,9971746,9927029,9843967,9823329,9738936,9566905,9545347,9521872,9512503,9500465,10980707 734850,1599632,1599637,2289674,2289488,2289813,2289814,2289815,2289817,2289818,2289828,2289792,2289829,2289830,2289831,1643593,2289794,2289832,2289833,2289834,2289836,2289837,2289816,2289835,2289840,2289843,1581696,2293188 1499 NM_001904,NM_001098209,NM_001098210,AC104307,AY081165,AY463360,CH471055,AB062292,AK095242,AK289932,BC058926,BX648430,CR596976,CR604301,DA216720,X87838,Z19054 NP_001895,NP_001091679,NP_001091680,AAL89457,AAR18817,EAW64625,EAW64626,EAW64627,EAW64628,BAB93475,BAF82621,AAH58926,CAA61107,P35222,ABZ92383,CAA79497 Hs.476018 GDB:141922 CTNNB|DKFZp686D02253|FLJ25606|FLJ37923 beta-catenin protein-coding 1350422 CTNNBIP1 catenin, beta interacting protein 1 The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. 1580863 10898789,18070361,17638851,17418091,17255093,16575872,16189514,15489334,15063782,14613891,12477932,12417602,12408825,12408824,12182422,12124804,12068170,17353931 56998 NM_001012329,NM_020248,AL357140,CH471130,AB021262,BC014300,BI226022,CB995652,CR606136,CR625094 NP_001012329,NP_064633,CAI16886,EAW71631,EAW71632,BAB03458,AAH14300,Q5T4V2,Q9NSA3,ABZ92405 Hs.463759 GDB:11500720 ICAT|MGC15093 protein-coding 1346196 CTNNBL1 catenin, beta like 1 The protein encoded by this gene contains an acidic domain, a putative bipartite nuclear localization signal, a nuclear export signal, a leucine-isoleucine zipper, and phosphorylation motifs. In addition, the encoded protein contains Armadillo/beta-catenin-like repeats, which have been implicated in protein-protein interactions. Although the function of this protein has not been determined, the C-terminal portion of the protein has been shown to possess apoptosis-inducing activity. 1580863 18325910,16730941,16189514,15635413,15498874,15489334,14702039,12659813,12477932,11780052,9373149,8125298 56259 NM_030877,AL023804,AL109964,AL118499,CH471077,AF086002,AF239607,AF367471,AF370431,AK024761,AK074663,AK091216,AK130301,AK222592,BC022802,BC036739,BC121005,BC121006,CB137946,CR606693,CR611734 NP_110517,CAI42984,CAI42985,CAI42986,CAI42203,CAI42204,CAI42208,CAI19331,CAI19332,EAW76054,EAW76055,AAL69567,AAK53407,AAQ15267,BAB14992,BAC11121,BAD96312,AAH22802,AAI21006,AAI21007,Q0VAM0,Q8WYA6 Hs.472667 GDB:11504973 C20orf33|FLJ21108|NAP|NYD-SP19|P14L|PP8304|dJ633O20.1 protein-coding 1313793 CTNND1 catenin (cadherin-associated protein), delta 1 This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and althernative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. 1580863 18032823,17719574,17576929,17509776,17383052,17344476,17334396,17264675,17242406,17081983,16982802,16935280,16786001,16534869,16344560,16226102,16212419,16120645,16083285,15951569,15857834,15833838,15817151,15592455,15588985,15561585,15522875,15342556,15324660,15240885,15161659,15146197,14996911,14699141,14660598,14610056,14610055,12885254,12835311,12740216,12734196,12671892,12640114,12492499,12477932,12427869,12370829,12151522,12115574,11969288,11855855,11821434,11389551,11382764,11181067,10931041,10835420,10753936,10629228,10409703,10393933,10321838,10225956,9378757,9205841,8808291,8660921,7876318,7651399,14625392,12604612,12707304,9535896,7542250,15331416,11712088,10207085,9774455,9653641 1500 NM_001085458,NM_001085459,NM_001085461,NM_001331,NM_001085467,NM_001085460,NM_001085462,NM_001085463,NM_001085466,NM_001085464,NM_001085468,NM_001085465,NM_001085469,AP001931,AY505564,CH471076,AF062317,AF062318,AF062319,AF062320,AF062321,AF062322,AF062323,AF062324,AF062325,AF062326,AF062327,AF062328,AF062329,AF062330,AF062331,AF062332,AF062333,AF062334,AF062335,AF062336,AF062337,AF062338,AF062339,AF062340,AF062341,AF062342,AF062343,AF062344,AI088791,AK292554,AL698868,BC010501,BC075795,BP217375,BT007333,CN431494,CR614298,CR749275,DB090596 NP_001078927,NP_001078928,NP_001078930,NP_001322,NP_001078936,NP_001078929,NP_001078931,NP_001078932,NP_001078935,NP_001078933,NP_001078937,NP_001078934,NP_001078938,AAR84236,EAW73784,EAW73785,EAW73786,EAW73787,EAW73788,EAW73789,EAW73790,EAW73791,EAW73792,AAC39802,AAC39803,AAC39804,AAC39805,AAC39806,AAC39807,AAC39808,AAC39809,AAC39810,AAC39811,AAC39812,AAC39813,AAC39814,AAC39815,AAC39816,AAC39817,AAC39818,AAC39819,AAC39820,AAC39821,AAC39822,AAC39823,AAC39824,AAC39825,AAC39826,AAC39827,AAC39828,AAC39829,BAF85243,AAH10501,AAH75795,AAP35997,CAH18130,O60716,Q68DU0,Q7KZJ3,Q96FS1 Hs.166011 GDB:636603 CAS|CTNND|KIAA0384|P120CAS|P120CTN|p120 protein-coding 1353744 CTNND2 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) 1580863 9223106,9342840,18421076,18302937,17687028,16226102,15372022,15345747,12835311,12477932,11891774,11821434,11729199,11076863,10896674,10673328,10413599,10208590,10080919,10037471,9971746,9721216,9110174,9049630,8619474 1501 U52828,U72665,U81004,U96136,AC003089,AC003954,AC004633,AC004648,AC005367,AC005610,AC010433,AC010626,AC113390,AC127460,CH471102,AB013805,AF035302,AK127257,AK226124,BF512945,U52351,NM_001332 AAB97957,AAB96357,AAB68599,AAD00453,AAC63103,Q9UQB3,AAI11838,NP_001323,AAB83940,EAX08053,EAX08054,EAX08055,BAA36163,AAB88185 Hs.314543 GDB:6276675 GT24|NPRAP protein-coding 1318250 CTNS cystinosis, nephropathic 1342442,1601022,1580863 12401840,12204010,12110740,11708862,11565547,11505338,11121245,10673275,15128704,9537412,16439594,7112129,17471495,15956064,11150305,17643777,17137217,16344560,15885099,15365816,12477932,12442267,10625078,10571941,10556299,10482956,10444339,10068513,9792862 1342442,1601022 1497 DB026195,NM_004937,NM_001031681,AC027796,AC132942,AF112442,AF168787,CH471108,Y15924,AJ222967,AK292019,BC032850,BX369529,CA454595,CR542058,CR590621,CR595952,CR599302 O60931,Q6FGP9,Q8IZ01,NP_004928,NP_001026851,AAD45630,AAF43102,EAW90494,EAW90495,EAW90496,CAA75882,CAA11021,BAF84708,AAH32850,CAG46855 Hs.187667 GDB:700761 CTNS-LSB|PQLC4 protein-coding 1351145 CTPL1 cataract, pulverulent (autosomal recessive, early-onset) 11179024 81863 1322315 CTPS CTP synthase The catalytic conversion of UTP to CTP is accomplished by the enzyme cytidine-5-prime-triphosphate synthetase. The enzyme is important in the biosynthesis of phospholipids and nucleic acids, and plays a key role in cell growth, development, and tumorigenesis. The region to which the CTPS gene has been mapped is the location of breakpoints involved in several tumor types 1580863 16179339,17353931,2113467,7981751,17681942,17463002,17081983,16710414,16097034,15489334,15324660,15302935,12477932,10064135,9373149,8125298,3355843,1959918,1783378 1503 NM_001905,AL391730,CH471059,AK130549,AK225899,BC009408,BQ642049,CR599441,CR602579,CR608005,X52142 NP_001896,CAH72797,EAX07192,EAX07193,AAH09408,CAA36386,P17812 Hs.473087 GDB:126729 protein-coding 1602693 CTPS2 CTP synthase II The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 10899599,17081983,16189514,16179339,15772651,15489334,14702039,12477932 56474 NM_175859,AC073909,AL445467,CH471074,AF086422,AF226667,AK023549,AK024070,AK025654,AK125332,AK125348,BC006256,BC034986,BX647712,NM_019857 NP_062831,NP_787055,CAI40085,CAI40086,EAW98912,EAW98913,EAW98914,EAW98915,AAF91241,BAB14607,BAB14814,BAB15204,AAH06256,AAH34986,Q9H6Q0,Q9NRF8 Hs.227049 GDB:10796857 DKFZp686C17207|FLJ43358|MGC32997 protein-coding 1322372 CTR9 Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) CTR9, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and PAF1 (MIM 610506) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM] 15231748,17911113,17081983,16964243,15632063,15489334,15302935,12477932,12421765,8636124,8590280 9646 NM_014633,AC116535,CH471064,AK291794,BC014335,BC020951,BC058914,D63875 NP_055448,EAW68557,EAW68558,BAF84483,AAH58914,BAA09925,Q6PD62 Hs.173288 KIAA0155|SH2BP1|TSBP|p150|p150TSP sh2 domain binding protein 1 (tetratricopeptide repeat containing) protein-coding 731605 CTRB1 chymotrypsinogen B1 Alpha-chymotrypsin (EC 3.4.21.1) is one of a family of serine proteases secreted into the gastrointestinal tract as the inactive precursor chymotrypsinogen. The zymogen is activated by proteolytic cleavage by trypsin (PRSS1; MIM 276000).[supplied by OMIM] 1580863 2917002,15489334,14702039,12477932,10713514,8186414,6983488,2789125,2456616,2435303,2071140,511932,16189514 1504 NM_001906,XM_001717935,AC009078,CH471114,AK124403,AW338596,BC005385,BT007356,BX497259,CA946996,M24400 NP_001897,XP_001717987,EAW95660,AAH05385,AAP36020,AAA52128,P17538 Hs.610926,Hs.632211 GDB:119820 CTRB|FLJ42412|MGC88037 chymotrypsinogen b protein-coding 1347928 CTRB2 chymotrypsinogen B2 15342556,12477932,9373149,8186414,8125298,2917002 440387 NM_001025200,AC009078,CH471114,AK131056,AK225933,AK291822,BC073145,BP324399 NP_001020371,EAW95661,BAF84511,AAH73145,Q6GPI1 Hs.610926 GDB:136273 protein-coding 1318112 CTRC chymotrypsin C (caldecrin) This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. 1580863 8635596,18172691,18059268,17592142,16710414,15489334,12477932,9538241,2365696,2093478 11330 NM_007272,AL031283,CH471167,AK289447,BC015118,BC059779,CR749296,S82198,Y13697 NP_009203,CAB77355,EAW51725,EAW51726,BAF82136,AAH15118,CAH18151,AAB47104,CAA74031,Q68DR9,Q99895 Hs.631869 GDB:9957978 CLCR|ELA4 protein-coding 1346038 CTRL chymotrypsin-like 1580863 9065485,15489334,12477932,12231569,9373149,8812482,8268911,8267879,8125298 1506 NM_001907,AC040162,CH471092,X71874,AK090445,AK223172,BC039716,BC063475,CR598482,X71877 NP_001898,EAW83188,EAW83189,CAA50710,BAC03426,BAD96892,AAH39716,AAH63475,CAA50711,P40313,Q53FV9,Q8IUW0,Q8NF36 Hs.654546 GDB:204061 CTRL1|MGC70821 protein-coding 1349342 CTS1 carpal tunnel syndrome 1 1507 GDB:118779 1319205 CTSA cathepsin A This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1599169,1580863 10207930,9636645,9603439,9501080,9105659,8968752,8910459,8591035,8514852,8198123,8068159,8053688,6796775,6418007,3922758,3149149,3102233,3084261,2244901,2148053,2071143,1907800,1907282,1756715,1694176,1605251,16189514,3107551,17353931,1387645,3136930,16538002,16344560,16263699,15785934,15489334,14718574,14702039,12665801,12649068,12505983,12477932,11780052,10944848 1599169 5476 NM_000308,NM_001127695,AF491871,AL008726,CH471077,AB209705,AF086236,AK055177,AK097786,AK172808,AK307701,BC000597,BC093009,CR590686,CR595889,CR596957,CR600724,CR605948,CR607706,CR608418,CR609128,CR609734,CR611107,CR618673,CR621669,CR624913,CR625597,CR626192,CR626418,DA029446,M22960 NP_000299,NP_001121167,AAM09560,CAA15501,CAI20248,CAI20249,CAI20250,EAW75788,EAW75789,BAD92942,AAH00597,AAH93009,AAA36476,P10619,Q59EV6,Q5JZG9,Q5JZH0,Q8TD81,ABM82861,ABM86048 Hs.652282 GDB:119507 GLB2|GSL|NGBE|PPCA|PPGB protective protein for beta-galactosidase (galactosialidosis) protein-coding 734437 CTSB cathepsin B The protein encoded by this gene is a lysosomal cysteine proteinase composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimer disease, the most common cause of dementia. Overexpression of the encoded protein, which is a member of the peptidase C1 family, has been associated with esophageal adenocarcinoma and other tumors. At least five transcript variants encoding the same protein have been found for this gene. 734853,734852,1580863 1645961,3463996,16130169,18296264,17991740,17990360,17726009,17724614,17519890,17507477,17504810,17081065,17064696,16914553,16913838,16894574,16733801,16709808,16534247,16492714,16381007,16364318,16315320,16303743,16077201,16051222,16034129,15832773,15831716,15816632,15807897,15799821,15710602,15679122,15512772,15489334,15274632,15262981,15255544,15122332,15100281,15016552,14984956,14730346,14729603,14702039,14503883,12926111,12893746,12887051,12726991,12677446,12643545,12589965,12581740,12477932,12437120,12437117,12201820,12186841,12185082,12102727,12086583,12072442,12057992,11932257,11815600,11746262,11514663,11513559,11435427,11241311,11228542,11139332,11134363,11115496,11016923,10876156,10849756,10777578,10512713,10395917,10353845,9928950,9776083,9770500,9733783,9632704,9585570,9582368,9539769,9412840,9360997,9299326,9295331,9076588,8635854,8617355,8112600,8014475,7890620,7718586,7622042,7509303,6351842,3972105,3542996,3010323,2476070,2061332,1996959,1984484,1900515,1868826,1637335,1597471,1577456,1326552,417724,16189514 734853,734852 1508 NM_001908,NM_147781,NM_147783,NM_147782,NM_147780,AC025857,AC069185,AY082426,AY082427,CH471157,AK075393,AK092070,AK097384,AK130184,AK290239,AL543654,BC010240,BC095408,BG770805,BM008741,BX647765,BX647952,BX648239,CB997355,CR590308,CR591985,CR592456,CR592977,CR593765,CR594217,CR594314,CR594660,CR594854,CR595173,CR596339,CR596852,CR598671,CR601520,CR602375,CR603066,CR603790,CR605942,CR606913,CR607589,CR607736,CR608531,CR608828,CR609102,CR609348,CR609540,CR611342,CR612536,CR612757,CR613583,CR613700,CR614817,CR615369,CR615689,CR616354,CR617189,CR619827,CR621067,CR622240,CR623525,CR624308,CR626324,L16510,M13230,M14221,Y18460 NP_001899,NP_680091,NP_680093,NP_680092,NP_680090,AAL99368,AAL99369,EAW65630,EAW65631,EAW65632,EAW65633,EAW65634,EAW65635,EAW65636,BAF82928,AAH10240,AAH95408,CAI46053,AAC37547,AAA52125,AAA52129,CAA77178,P07858,Q5HYG5,Q6LAF9,Q8TAC7 Hs.520898 GDB:119087 APPS|CPSB protein-coding 736291 CTSC cathepsin C The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in immune/inflammatory cells. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor, and a residual portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. Multiple transcript variants encoding different isoforms have been found for this gene. 1599638,1599639,1599640,1599645,1599651,1599652,1599653,1580863 9092576,7665576,17976006,17943190,17652201,17535802,17020538,16381901,15991336,15585850,15489336,15146197,15111626,15108292,14974080,12857359,12809647,12477932,12358155,12139965,12137938,12112662,12083812,12080079,11914041,11886537,11726493,11327826,11230166,11180601,11180012,11158173,11106356,11076863,11015218,10756096,18294227,10662808,10662807,10593994,10581027,9507095,9373149,9272739,8125298,7649281,1586157 1599638,1599639,1599640,1599645,1599651,1599652,1599653 1075 BM997817,BX459226,BX537913,CB114425,CN368896,CR593092,CR594896,CR595572,CR595605,CR597937,CR598242,CR601206,CR601485,CR601562,CR606590,CR609574,CR610023,CR610221,CR612418,CR612501,CR612734,CR613100,CR614340,CR615573,CR616227,CR616799,CR616827,CR617349,CR618171,CR624445,CR625368,X87212,NM_001814,NM_148170,NM_001114173,AC011088,CH471185,U79415,AA011305,AF234263,AF234264,AF254757,AF525032,AF525033,AI821972,AK223038,AK292117,AU076460,BC008059,BC023559,BC054028,BC100891,BC100892,BC100893,BC100894,BC107770,BC109386,BC110071,BC113850,BC113897 CAD97897,CAA60671,P53634,Q2HIY8,Q7Z3G7,Q7Z5U7,CAL38498,AAI46693,NP_001805,NP_680475,NP_001107645,EAW59363,EAW59364,AAC51341,AAL48191,AAL48192,AAL48195,AAQ08887,AAQ08888,BAD96758,BAF84806,AAH54028,AAI00892,AAI00893,AAI00894,AAI00895,AAI09387,AAI10072,AAI13851,AAI13898 Hs.128065,Hs.706874 GDB:120113,GDB:642234 CPPI|DPP1|DPPI|HMS|JP|JPD|PALS|PLS protein-coding 1351014 CTSD cathepsin D This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has a specificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites, including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. 1358532,1358533,1580863,1643198 3927292,14718574,18426579,18307033,18296260,18248894,18202773,18177262,17875703,17532541,17395004,17340625,17289576,17284061,17188016,17176069,17112520,17081065,17032648,16850161,16784755,16709808,16685649,16652347,16608402,16543533,16417614,16396496,11095076,10986284,10931940,10876156,10849758,10748089,10716266,10605825,16354654,16335952,16331270,16263712,16263699,16127101,16081416,16046058,15896324,15862967,15843343,15668295,15489334,15318816,15258139,15211070,15211064,10508159,10504270,9731700,9275067,9076588,8943232,8930981,8671230,8467789,8419924,8393577,11258665,8262386,8106429,7935485,7657720,7547509,7523115,6236213,3988746,3665421,3588310,3261170,2736531,2180427,2069717,2013314,1939080,1883350,1734961,1522590,938470,10623764,16189514,15989967,15192082,15168727,15158911,15081423,15003956,14767531,14702039,12970159,12826741,12811635,12782632,12782337,12754519,12651610,12643545,12556904,12477932,12185597,12151789,12147324,12140763,12083803,12011767,11906282,11840502,11786931,11780226,11779865,11687971,11581410,11436125,11341921,11304834,11264868 1358532,1358533,1643198 1509 NM_001909,AC068580,CH471158,L12980,M63138,S52557,S74689,AK022293,AK130178,BC001574,BC016320,BM762986,BT006910,BT020155,CR456947,CR597228,CR609839,CR612133,CR613410,CR623521,M11233,X05344 NP_001900,EAX02461,EAX02463,AAA16314,AAA51922,AAD13868,AAD14156,AAH16320,AAP35556,AAV38957,CAG33228,EAX02462,AAB59529,CAA28955,P07339,ABM84473,ABM84804 Hs.121575,Hs.654447 GDB:120512 CLN10|CPSD|MGC2311 cathepsin d (lysosomal aspartyl protease) protein-coding 736046 CTSE cathepsin E The protein encoded by this gene is a gastric aspartyl protease that functions as a disulfide-linked homodimer. This protease, which is a member of the peptidase C1 family, has a specificity similar to that of pepsin A and cathepsin D. It is an intracellular proteinase that does not appear to be involved in the digestion of dietary protein and is found in highest concentration in the surface of epithelial mucus-producing cells of the stomach. It is the first aspartic proteinase expressed in the fetal stomach and is found in more than half of gastric cancers. It appears, therefore, to be an oncofetal antigen. Transcript variants utilizing alternative polyadenylation signals and two transcript variants encoding different isoforms exist for this gene. 7789521,8765029,2674141,7983070,18006832,17947645,17888866,15845357,15699105,15489334,15342244,14769879,12843568,12631277,12531480,12477932,11337467,11322887,9502222,8759606,8491674,8346912,2369841,2334440,2226872,1959628,1794985,1370478,195962,8457383 1510 NM_001910,NM_148964,BX571818,CH471067,M84424,AJ250716,AJ250717,AK292057,AU100136,BC042537,J05036 NP_001901,NP_683865,CAH73264,CAH73265,EAW91592,EAW91593,AAA52300,CAB82849,CAB82850,BAF84746,AAH42537,AAA52130,P14091,Q5TZ01,Q5TZ02,Q9UCE3,Q9UCE4 Hs.701979 GDB:119821 CATE protein-coding 1317809 CTSF cathepsin F Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. 1580863 9822672,16963053,15989693,15489334,15184381,12477932,10876093,10748235,10661872,10362521,10318784,10198209 8722 NM_003793,AF132894,AP002748,CH471076,AF071748,AF071749,AF088886,AF136279,AJ007331,AL137742,BC011682,BC013359,BC036451,CR541680 NP_003784,AAD41790,EAW74547,EAW74548,AAC78838,AAC78839,AAD26616,AAF13146,CAB42883,CAB70900,AAH11682,AAH36451,CAG46481,Q6FHS1,Q9UBX1,ABM84171 Hs.11590 GDB:9956741 CATSF protein-coding 1317010 CTSG cathepsin G The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. Transcript variants utilizing alternative polyadenylation signals exist for this gene. 1580863 16317101,16034099,15967795,15650747,15489334,15385470,15140022,15131125,15100291,14737102,14688365,12784398,12759451,12531874,12524437,12504904,12477932,11986950,11945165,11928814,11920276,11747312,2569462,11557685,11536009,11520793,11520773,11502364,11389039,11307827,11259672,11241273,10978167,10899625,10512690,9718313,9698370,9565572,9536127,9412840,9373149,9337538,8896442,8849841,8454293,8408036,8400294,18217133,17653609,17418861,16977463,16444434,8090757,7936190,7593196,7517206,6294088,3911778,3799965,3304423,2681419,2616953,2501794,2318847,2164060,1873479,1861080,1452887,1387511,16189514,8125298 1511 NM_001911,AL136018,CH471078,J04990,AI272833,AK225914,BC014460,CR456807,CR541704,M16117 NP_001902,EAW66006,AAA51919,AAH14460,CAG33088,CAG46505,AAA52126,P08311,Q6IBJ6,ABM83993,ABM87319 Hs.421724 GDB:119822 CG|MGC23078 protein-coding 735454 CTSH cathepsin H The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Two transcript variants encoding different isoforms have been found for this gene. 2849458,15646835,15489334,14766755,14662023,14515996,12615673,12589965,12581647,12477932,12203716,12034564,11796715,11514663,11136537,11134363,10395917,9076588,7821789,6184075,3342889,2588347,2587265,2486008,16189514 1512 NM_004390,NM_148979,AC011944,CH471136,AF426247,AF426248,AI057198,AK026152,AK130158,AL110099,BC002479,BC018821,BG775606,CR456881,CR596280,CR613401,CR749582,D28436,X07549,X16832,Y18461 NP_004381,NP_683880,EAW99143,AAL23961,AAL23962,AAH02479,CAG33162,CAH18374,BAA05802,CAA30428,CAA30429,CAA34734,CAA77179,P09668,Q68D46,Q6IBC3,Q6LAF8,Q96NY6,ABM81609,ABM84698 Hs.148641 GDB:120602 ACC-4|ACC-5|CPSB|DKFZp686B24257|MGC1519|minichain protein-coding 1342646 CTSJ cathepsin J 337936 AF136272 GDB:11510832 734172 CTSK cathepsin K The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. This gene may be subject to RNA editing. 1342442,734856,1601025,1580863 9143502,17889653,7818555,18163891,18053985,17991740,17683065,17397052,17230547,17227755,16946716,16912123,16831915,16774752,16354158,16344560,16337236,15929988,15878337,15837295,15826870,15797245,15737607,15489334,15304486,15161653,14753734,14684825,14645229,12887056,12652657,12568399,12504904,12492488,12477932,12125807,12081494,12039963,11733367,10878663,10849755,10719280,10491211,10048321,9893980,9548757,9529353,9405598,9276160,9143491,9033587,9028530,8938428,8703060,8647860,8585423,7929457,7805878,7663522,7663521,7576232,7492318,16189514 1342442,734856,1601025 1513 NM_000396,AL355860,AL356292,CH471121,AK130134,AU118043,AY429530,BC016058,CR541675,CR541719,CR594213,CR598542,CR601270,CR606929,CR612492,CR612623,CR614321,CR624019,CR626142,CR626559,DQ480128,S79895,U13665,U20280 NP_000387,CAI12795,CAI12796,CAI13649,EAW53515,EAW53516,AAH16058,CAG46476,CAG46520,AAB35521,AAA65233,AAA95998,Q6FHN2,Q6FHS6,P43235 Hs.632466 GDB:453910 CTS02|CTSO|CTSO1|CTSO2|MGC23107|PKND|PYCD protein-coding 736036 CTSL1 cathepsin L1 The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. At least two transcript variants encoding the same protein have been found for this gene. 1580863 9837884,9733783,9632704,9585570,9548757,9468501,9141479,9076588,8896443,8666891,7340337,3550705,3545185,3490478,3421948,3342889,2835398,2275556,1939080,1551416,116880,16189514,9918848,8419312,17889653,14718574,18221013,18163891,17928356,17643114,17574778,17561110,17519890,17227755,16918298,16913838,16740135,16565075,16433682,16354158,16335952,16303743,15982660,15832773,15816632,15665831,15512772,15498563,15489334,15454886,15318816,15255544,15100281,15099520,14702039,12941783,12926111,12921779,12818188,12809493,12754519,12748383,12504904,12492488,12477932,12437119,12437117,12137950,11978977,11801256,11777924,11771045,11767948,11517935,11514663,11435427,11327826,11278902,10849756,10716919,10428479,10395917,10218831,10022822 1514 CR618895,CR619050,CR619793,CR620611,CR620702,CR620883,CR620973,CR623879,CR624025,CR624043,CR625678,CR626403,DN993009,X05256,X12451,Y18462,NM_145918,AL160279,CH471089,M20496,AF217997,AF304301,AF467444,AK055599,AK075100,AL832167,NM_001912,AW270438,BC012612,BC142983,BI824449,BI829385,BX537395,BX647101,BX647102,BX647413,BX647434,BX647435,BX648848,BX648849,BX649140,CR457053,CR590033,CR590181,CR590618,CR590723,CR591819,CR592569,CR593015,CR594363,CR595008,CR595268,CR595891,CR596740,CR599034,CR600244,CR601495,CR601498,CR601598,CR602859,CR603547,CR603622,CR603807,CR604305,CR605581,CR605661,CR606260,CR606674,CR606843,CR607254,CR607374,CR607547,CR607586,CR608477,CR608495,CR609955,CR610633,CR611865,CR612043,CR612596,CR613254,CR613528,CR614675,CR615255,CR616359,CR616495,CR616991,CR617897,CR618528 CAA28877,CAA30981,CAA77180,P07711,Q5K630,Q5T8F0,Q6LAF7,Q8NG13,Q9HBQ7,ABM83856,ABM87178,NP_001903,NP_666023,CAI16307,CAI16308,EAW62731,EAW62732,EAW62733,EAW62734,EAW62735,EAW62736,AAA66974,AAG17239,AAM89516,AAQ05021,AAH12612,AAI42984,CAD97637,CAG33334 Hs.418123 GDB:119824 CATL|CTSL|FLJ31037|MEP cathepsin l protein-coding 1344069 CTSL2 cathepsin L2 The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. 1580863 9563472,17889653,17869649,17516850,16565075,15679121,15489334,15192101,15164053,12975309,12925692,12648222,12477932,11027133,10382972,10029531,9727401 1515 NM_001333,AB019534,AL445670,CH471105,CS265690,AB001928,AF070448,AY358641,BC023504,BC067289,BC110512,Y14734 NP_001324,BAA34365,CAI15053,EAW58831,EAW58832,CAJ78377,BAA25909,AAC23598,AAQ89004,AAH23504,AAI10513,CAA75029,O60911 Hs.660866 GDB:9864262 CATL2|CTSU|CTSV|MGC125957 protein-coding 1604146 CTSL3 cathepsin L family member 3 392360 NM_001023564,AL160279,CH471089,AJ851862 NP_001018858,EAW62737,CAH65460,Q5NE16 Hs.690450 HCTSL-s protein-coding 1343958 CTSLL1 cathepsin L-like 1 7713509 1516 L07772 GDB:250757 CTSLL pseudo 1346453 CTSLL2 cathepsin L-like 2 7713509 1517 NG_005638,BX547991,L25628 Hs.568350 GDB:250758 pseudo 1352873 CTSLL3 cathepsin L-like 3 7713509 1518 NG_006505,AL772337,L25629 Hs.418123 GDB:250760 pseudo 1349396 CTSLL4 cathepsin L-like 4 414214 1346149 CTSLL5 cathepsin L-like 5 643587 AL603982,NG_006122 bA342C24.4 pseudo 1342791 CTSLL6 cathepsin L-like 6 414210 1354146 CTSLL7 cathepsin L-like 7 414211 1349560 CTSM cathepsin M 337937 AY014777 GDB:11510833 1343138 CTSO cathepsin O The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. 1580863 7929457,15489334,12477932,9790772,7805878 1519 NM_001334,AC093830,CH471056,BC049206,BG617165,BI834113,BQ006443,X77383 NP_001325,EAX04883,AAH49206,CAA54562,P43234 Hs.75262 GDB:439004 CTSO1 protein-coding 1353735 CTSQ cathepsin Q 632504 632504 337942 AF187323 1345891 CTSR cathepsin R 337990 AK005429 GDB:11510834 1350928 CTSS cathepsin S The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may participate in the degradation of antigenic proteins to peptides for presentation on MHC class II molecules. The encoded protein can function as an elastase over a broad pH range in alveolar macrophages. Transcript variants utilizing alternative polyadenylation signals exist for this gene. 1580863 8083219,7890620,7717452,7575468,2044774,1377692,16189514,1373132,8157683,14718574,17878156,17622942,17227755,17075137,16839849,16825321,16710414,16550604,16410454,16394095,16354158,16338279,16140306,15489334,14966190,12819022,12748383,12742663,12643447,12477932,12437117,12164923,11884425,11856830,11710834,11435427,11241311,11134363,11115496,10852705,10721671,10395917,9876921,9548757,9545324,9524075,9164868,9143502,9099979,9076588,8706894 1520 NM_004079,AL356292,CH471121,U07369,U07370,U07371,U07372,U07373,U07374,AK024855,AK226095,BC002642,BQ006623,CR541676,CR592748,CR607339,CR612707,CR613968,CR623699,CR626534,M86553,M90696,S93414 NP_004070,CAI13657,EAW53517,EAW53518,EAW53519,AAB60643,AAH02642,CAG46477,AAA35655,AAC37592,AAB22005,P25774,Q6FHS5 Hs.181301 GDB:132414 MGC3886 protein-coding 1319657 CTSW cathepsin W The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. 1580863 9823953,15489334,15358123,15340161,12477932,12437118,11490002,10849754,10716634,10362521,9675123,9108299 1521 NM_001335,AF015954,AF055903,AP001201,CH471076,AF013611,BC035637,BC048255,BI833187,BM996548,CR621885 NP_001326,AAB82457,AAC32181,EAW74463,EAW74464,AAB82449,AAH48255,P56202 Hs.416848 GDB:6262143 LYPN protein-coding 1352898 CTSZ cathepsin Z The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. At least two transcript variants of this gene have been found, but the full-length nature of only one of them has been determined. 1580863 9642240,11256614,18420963,17065156,16381901,15680921,15489336,15489334,12477932,11780052,11076863,11030415,10760573,10745011,10656802,10653163,10653162,9738465 1522 NM_001336,AF136274,AF136275,AF136276,AL109840,CH471077,AF009923,AF073890,AF136273,BC025419,BC042168,BT019915 NP_001327,AAF13148,CAC09370,EAW75448,EAW75449,EAW75450,AAC63141,AAC61477,AAF13145,AAH25419,AAH42168,AAV38718,Q0JVB4,Q5U000,Q6PJ02,Q9UBR2,CAL37546 Hs.252549 GDB:9864263 CTSX protein-coding 1352162 CTTN cortactin This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Two splice variants that encode different isoforms have been identified for this gene. 1580863 9054437,18039661,17959782,17702746,17643370,17627624,17576929,17562703,17510372,17483334,17451412,17449030,17292556,17178864,17081983,17056576,17005439,16964243,16937268,16905744,16825658,16825425,16815198,16652145,16636290,16611226,16527272,16489553,16442522,16416022,16385081,16344560,16280034,16261345,16212419,16076899,16051170,15951569,15710041,15618548,15592455,15579908,15574754,15464244,15302935,15263018,15242766,15169891,15159385,15144186,15123640,15064355,15056655,14702039,13129922,12952985,12913069,12835311,12672817,12620186,12522270,12477932,12453877,12419186,12408982,12176742,12176354,12151401,12060669,11988077,11830518,11689006,11607842,11439336,11389697,11018051,10921917,10537323,9823470,9813110,9792678,9748248,9742101,9722593,9553134,9373149,8636079,8474448,8125298,7685625,7680654,1532244,16189514,15719014 2017 NM_138565,NM_005231,AB036705,AJ288897,AP000487,CH471076,AK023333,AK091778,AK222613,AK291097,AU124856,BC008799,BC033889,CR600359,DA716772,M98343 NP_612632,NP_005222,BAD06416,EAW74766,EAW74767,EAW74768,EAW74769,EAW74770,BAD96333,BAF83786,AAH08799,AAH33889,AAA58455,Q14247,Q53HG7,Q76MU0,Q8N707,Q96H99 Hs.632133 EMS1|FLJ34459 protein-coding 1353355 CTTNBP2 cortactin binding protein 2 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. 15489334,15364959,14702039,12853948,12690205,12477932,11707066,11214970,9813110 83992 DQ356263,DQ356264,DQ388128,DQ388129,DQ388130,DQ388131,DQ388132,DQ388133,DQ388134,DQ388135,DQ388136,DQ388137,DQ388138,DQ388139,DQ388140,DQ388141,DQ388142,DQ388143,DQ388144,DQ388145,AB051545,AF377960,AK091548,AK096565,AL137685,BC019644,BC106000,NM_033427,AC004240,AC007568,CH236947,CH471070,DQ354388,DQ354389,DQ354390,DQ354391,DQ356257,DQ356258,DQ356259,DQ356260,DQ356261,DQ356262 ABC87064,ABC87066,ABD72182,ABD72184,ABD72186,ABD72188,ABD72190,ABD72192,ABD72194,ABD72196,ABD72198,ABD72200,ABD72202,ABD72206,ABD72208,ABD72210,ABD72212,ABD72214,ABD72216,BAB21849,AAL32176,BAC04818,ABD72204,AAI06001,Q20BG7,Q20BG9,Q20BI7,Q2I096,Q2I0A6,Q8N8L8,Q8WZ74,NP_219499,AAC04501,EAL24352,EAW83532,EAW83533,ABC79049,ABC79051,ABC79053,ABC79055,ABC87052,ABC87054,ABC87056,ABC87058,ABC87060,ABC87062 Hs.592285 C7orf8|CORTBP2|FLJ34229|KIAA1758|MGC104579|Orf4 protein-coding 1607020 CTTNBP2NL CTTNBP2 N-terminal like 11256614,16964243,16710414,16381901,15489336,15489334,15345747,15302935,14702039,12477932,11076863,10718198 55917 NM_018704,AL354760,AL450407,CH471122,AB037854,AK022544,AK023340,AL359565,BC016029 NP_061174,EAW56515,EAW56516,EAW56517,BAA92671,CAB94870,AAH16029,Q0JS68,Q0JST5,Q5T6T8,Q9NPX3,Q9P2B4,CAL38429,CAL38646 Hs.485899 DKFZp547A023|FLJ13278 protein-coding 1353903 CTXN1 cortexin 1 15489334,12477932,8336151 404217 NM_206833,AC010336,CH471139,AK098834,BC024148,BC062702 NP_996664,EAW68956,AAH62702,P60606 Hs.657978 CTXN|FLJ25968 protein-coding 1351200 CTXN2 cortexin 2 399697 BK004876 1604412 CTXN3 cortexin 3 17786280,16344560,12477932 613212 NM_001048252,NM_001127385,AC022118,AB219764,AB219832,BC071790,DA131605,DA623980 NP_001041717,NP_001120857,BAE06183,BAE06184,Q4LDR2 Hs.66194 KABE protein-coding 68502 CUBN cubilin (intrinsic factor-cobalamin receptor) Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. 62401,61796,1599655,1580863 10552972,10080186,9478979,11994745,17979745,17487979,17124247,16303743,15736970,15616221,15342556,15164054,14576052,12687456,11856751,11788601,11717447,11606717,11595644,11278724,10887099,10811843,10371504,10037728,9691015,9572993,9334227,8510165 62401,61796,1599655 8029 NM_001081,AC067747,AF243082,AL365215,AL596445,AL731551,CH471072,AB209880,AF034611,AF086456,AK074536,AK075228,BP270790,BP271329 NP_001072,AAK61829,CAH73630,CAH72450,CAI40246,CAI40247,EAW86221,BAD93117,AAC82612,O60494,Q59ED1,Q5JQ33,Q7LC53,Q96RV0 Hs.166206 GDB:636049 FLJ90055|FLJ90747|IFCR|MGA1|gp280 protein-coding 1349850 CUEDC1 CUE domain containing 1 15489334,15231748,14702039,12477932 404093 AC015845,CH471109,NM_017949,AK000746,AK000977,BC056882,CR627470 NP_060419,EAW94498,EAW94499,EAW94500,EAW94501,BAA91357,BAA91452,AAH56882,CAH10672,Q6AHX0,Q9NWM3 Hs.46679 DKFZp547L163|FLJ20739 protein-coding 1317669 CUEDC2 CUE domain containing 2 737633 17347654,16341674,16189514,15489334,15164054,12477932 737633 79004 CR592558,CR611545,CR619733,CR626050,CX165866,BM756951,NM_024040,AL121928,CH471066,CS072312,AB025425,AB232358,AF086406,BC000262,BF002772 Q9H467,NP_076945,EAW49696,EAW49697,EAW49698,CAI93450,BAB87809,BAE19942,AAH00262 Hs.500874 C10orf66|MGC2491|bA18I14.5 protein-coding 1317078 CUGBP1 CUG triplet repeat, RNA binding protein 1 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 10893231,8948631,18243120,10446244,9371827,8912635,8789448,14657503,17936705,17854664,17531403,16946708,16601207,16169070,15756469,15546872,15489334,15099703,15082764,14759258,14702039,12799066,12477932,11686919,11564876,11158314,11124939,10536163 10658 NM_006560,NM_198700,NM_001025596,AC090559,CH471064,AB210019,AF248648,AF267533,AF267534,AJ007988,AK056024,AK054655,BC031079,BC036782,CB960956,CR614032,U63289 NP_006551,NP_941989,NP_001020767,EAW67906,EAW67907,EAW67908,EAW67909,EAW67910,EAW67911,EAW67912,BAE06101,AAF86230,AAF78955,AAF78956,CAC20566,AAH31079,AAC50895,Q92879,ABM84643 Hs.632137 GDB:9864843 BRUNOL2|CUG-BP|CUGBP|NAB50|hNab50 protein-coding 68488 CUGBP2 CUG triplet repeat, RNA binding protein 2 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. 9887331,18292181,18258790,17383427,16920700,16713569,16344560,15894795,15358864,15342556,15146197,15033780,14973222,12535526,12477932,12110949,11577082,11414768,11158314,10893231,10524244,8889548,7869393 10659 NM_001025077,NM_006561,NM_001083591,NM_001025076,AC026887,AF295068,AL136320,AL136369,AL138769,AL157704,AL162408,CH471072,AA595891,AF036956,AF090693,AF090694,AF432906,AW965523,BC036391,BC050635,BE275530,BI914655,BM699598,BP229421,BP362205,BQ213648,BU173199,CD556770,CN356737,CR936676,CR976278,DA310511,DA819821,DB478862,U69546 NP_001020248,NP_006552,NP_001077060,NP_001020247,AAK72223,AAK72224,AAK92699,CAI20168,CAI20169,CAH70230,CAH70231,EAW86346,EAW86347,EAW86348,EAW86349,EAW86350,AAD02074,AAD13760,AAD13761,AAL27627,AAH36391,AAB09040,O95319,Q5VZZ6 Hs.309288 GDB:9958105 BRUNOL3|ETR-3|NAPOR cug triplet repeat,rna-binding protein 2 protein-coding 1317768 CUL1 cullin 1 1559274,1580863 12417738,12140560,12504025,8681378,12791267,12820959,15469984,11231585,17569795,17254749,17028207,16861300,16381901,16123585,16036220,15759013,15489336,15489334,14702039,14508008,12853948,12759363,12690205,12679038,12609982,12504026,12481031,12477932,11956208,11717410,11445862,11359933,11337588,11230166,11076863,11027288,10851089,10772955,10713156,10597293,10559858,10230407,10230406,9990852,9827542,9663463,9430629,8889548,16189514,11961546,12840033,12628165,12925736,14743216,17353931,12861003,11689688,14603323,14685242,11967155 1559274 8454 NM_003592,AACC02000041,AC005229,AC006323,CH471146,AF062536,AK096163,AK096505,BC034318,BC125119,BC125120,BG391038,BX537409,CA945052,CR617261,CR621639,CR626210,U58087 NP_003583,EAL24422,AAM49153,AAS02034,EAW80072,EAW80073,EAW80074,AAC36681,AAI25120,AAI25121,CAD97651,AAC50544,Q0JSS1,Q0JT42,Q13616,Q75MQ1,CAL38322,CAL38443 Hs.146806 GDB:9955187 MGC149834|MGC149835 protein-coding 1321670 CUL2 cullin 2 1580863,1559275 16189514,12609982,17353931,8681378,17609271,17069461,16620772,16503656,15489334,15280393,15164054,14702039,12477932,12149480,12004076,11818338,11384984,11337588,10973499,10597293,10535940,10449727,10230407,10092517,9447969,9122164,7660130 1559275 8453 NM_003591,AL392046,CH471072,AF126404,AK095217,AL832733,BC009591,BC095405,BC110901,U58088,U83410 NP_003582,CAI13162,CAI13163,CAI13164,CAI13165,EAW85924,EAW85925,EAW85926,EAW85928,AAD23581,AAH09591,AAI10902,AAC50545,AAC51190,Q13617,Q5T2B4,Q5T2B5,Q5T2B7 Hs.82919 GDB:9955185 MGC131970 protein-coding 1317824 CUL3 cullin 3 CUL3 is a component of a ubiquitin E3 ligase that is essential for mitotic division (Sumara et al., 2007 [PubMed 17543862]).[supplied by OMIM] 1580863,1559280,1559279 12609982,8681378,9733711,18221766,18218622,18075312,17543862,17254749,17192413,16620772,16524876,15897978,15897469,15601839,15592455,15489334,15302935,15282312,12477932,11337588,11311237,10597293,10500095,10230407,9734811,9663463,9110174,8619474 1559280,1559279 8452 NM_003590,AC073052,AC092679,CH471063,AB014517,AF052147,AF062537,AF064087,AK291151,AY007151,AY337761,BC031844,BC039598,BC092409,BQ688156,CR603582,U58089 NP_003581,AAX93287,AAY24157,EAW70828,EAW70829,EAW70830,BAA31592,AAC28621,AAC36682,AAC36304,BAF83840,AAQ01660,AAH31844,AAH39598,AAH92409,AAC50546,Q13618,Q53RD1,Q53S54 Hs.372286 GDB:9955183 protein-coding 1351332 CUL4A cullin 4A 1580863 12504025,8681378,18381890,17620334,17452440,17041588,16964240,16951172,16949367,16861906,16861890,16678110,16537899,16527807,16473935,16407252,16407242,16341674,16137618,15811626,15548678,15489334,15057823,15009096,14739464,14578910,12732143,12609982,12477932,12029633,11673459,11337588,10597293,10230407,9721878,9694792,16189514,15448697 8451 NM_001008895,AL136221,CH471085,AB012193,AB178950,AF077188,AL833355,AY365124,BC008308,BC015166,BM835927,BX439434,CA445237,CR593635,NM_003589,CR603374,CR610339,CR616294,U58090 NP_003580,NP_001008895,CAI13795,CAM18410,EAX09201,BAA33146,BAD93235,AAD45191,AAR13072,AAH08308,AAC50547,Q13619,ABW03594 Hs.339735 GDB:9955181 protein-coding 1342683 CUL4B cullin 4B This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 17236139,17041588,16678110,16620772,16407252,16344560,16322693,15772651,15489334,15302935,14578910,12477932,12168954,10978356,10597293,10230407,10092517,9734811,12504026,12609982,8681378,18235224,17392787,17273978 8450 NM_003588,NM_001079872,AC002476,AL451005,CH471107,AB014595,AF212995,AK123688,AY365125,BC036216,BX537641,BX537787,BX647096,CR603224,CR936722,CV573599,DB092748,U58091 NP_003579,NP_001073341,AAB67315,CAI41370,EAX11876,EAX11877,EAX11878,EAX11879,EAX11880,BAA31670,AAK16812,AAR13073,AAH36216,CAD97843,AAC50548,Q13620,Q5JRZ4,ABM85676 Hs.102914 GDB:9955179 DKFZp686F1470|KIAA0695|MRXHF2|MRXSC|SFM2 protein-coding 733947 CUL5 cullin 5 1580863,1559277,1299331 9581826,12504025,8681378,9037604,17974915,17449237,17351129,17257057,17186378,17069461,16636053,16530799,15781449,15574592,15489334,15184056,14702039,14564014,12917106,12477932,12186903,11409851,11384984,10898738,10597293,10230407,10092517,9950950,9119394,8889549,16303161,15574593,17353931 1559277,1299331 8065 NM_003478,AP002433,AP003307,CH471065,AA099369,AA403092,AA471067,AF017061,AF327710,AK125294,AK292575,BC017838,BC037203,BC063306,H01402,X81882 NP_003469,EAW67101,EAW67102,AAB70253,AAK07472,BAF85264,AAH63306,CAA57465,Q93034 Hs.440320,Hs.701122 GDB:9954482 VACM-1|VACM1 vasopressin-activated calcium-mobilizing receptor protein protein-coding 1314380 CUL7 cullin 7 1580863,1559287,1559277,1559286 12481031,17942889,17675530,17586686,17332328,17298945,16875676,16547496,16142236,15489334,14574404,12904573,12477932,12421765,10531037,7584044 1559287,1559277,1559286 9820 NM_014780,AL136304,AL355385,CH471081,AK292806,BC033647,BG424177,CR598926,D38548 NP_055595,CAI19793,CAI13779,EAX04144,EAX04145,BAF85495,AAH33647,BAA07551,Q14999 Hs.520136 KIAA0076|dJ20C7.5 protein-coding 1346513 CUTA cutA divalent cation tolerance homolog (E. coli) 10800960,15489334,15146197,14574404,12477932,10954708 51596 NM_015921,NM_001014838,NM_001014837,NM_001014840,NM_001014433,AL021366,AL662799,CH471081,AF106943,AF230924,AL533788,BC005890,BC107751,BG472577,BU540844,CB106834,CN363642,CR590722,CR595524,CR597845,CR606293,CR613274,CR620346 NP_057005,NP_001014838,NP_001014837,NP_001014840,NP_001014433,CAA16160,CAI18273,EAX03731,EAX03732,EAX03733,EAX03734,AAD21026,AAF61220,AAH05890,AAI07752,O60888 Hs.520070 ACHAP|C6orf82|MGC111154 chromosome 6 open reading frame 82 protein-coding 1312713 CUTC cutC copper transporter homolog (E. coli) Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM] 1580863 16341674,16189514,16182249,15635413,15489334,14702039,12477932,10810093,7635807 51076 NM_015960,AL133353,CH471066,AF132966,AK001142,BC011016,BC015059,BC021105,BC028948,BM738181,CD107559,CR613820,CR622851 NP_057044,CAB88199,CAI14501,EAW49854,EAW49855,EAW49856,AAD27741,AAH15059,AAH21105,AAH28948,Q5TCZ7,Q5TCZ8,Q5TCZ9,Q96BX3,Q9NTM9 Hs.16606 CGI-32|RP11-483F11.3 cutc copper transporter homolog (e.coli) protein-coding 1319831 CUX1 cut-like homeobox 1 The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. 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. 1301999,18347061,17957475,17682059,17681953,17496784,17369846,17227781,17140660,16574653,16529788,15950902,15718469,15489334,15269344,15099520,15004235,14702039,12891711,12853948,12766905,12743282,12665598,12522000,12477932,12438259,12429822,12193717,12115525,12052827,11953010,11748221,11584018,11509674,11403998,11371564,10852958,10803519,10607901,10373541,9799793,9792700,9373149,9332351,8662884,8468066,8125298,2481658 1523 NM_001913,NM_181500,NM_181552,AC005072,AC005086,AC005088,AC005096,AC005103,AC091390,AC092788,AF047825,CH471197,AB075522,AK122726,AK125097,AK222832,BC012323,BC025422,BC066592,CR609926,L12579,M74099 NP_001904,NP_852477,NP_853530,AAP22331,AAS07406,AAS07410,AAS07388,AAS07523,AAC78778,EAW50227,EAW50228,BAE45765,BAD96552,AAH25422,AAH66592,AAA35654,P39880,Q13948,Q3LIA3,Q75LE5,Q75MT2,Q75MT3,Q75MT4,Q86UJ7 Hs.654389 GDB:135993 CASP|CDP|CDP/Cut|CDP1|COY1|CUTL1|CUX|Clox|Cux/CDP|GOLIM6|Nbla10317|p100|p110|p200|p75 protein-coding 1314310 CUX2 cut-like homeobox 2 1580863 15656993,12477932,12168954,11353453,9446557,9179496,8798433 23316 AC002978,AC002979,AC005805,AB006631,AF234996,NM_015267,AC002352,AF271236,BC151245 BAA22962,NP_056082,AAG59617,AAG59620,AAI51246,O14529,Q9BZV4,Q9BZX3,AAI40441 Hs.124953 CDP2|CUTL2 protein-coding 1353922 CUZD1 CUB and zona pellucida-like domains 1 633090 15184879,16862170,15588985,15164054,12975309,12361947,11416020,10542259 633090 50624 NM_022034,AC073585,AL359747,CH471066,AF305835,AK289445,AY260047,AY260048,AY260049,AY260050,BC136755,BX538283,BX538284,BX648572 NP_071317,CAH70003,CAH70004,CAH70006,EAW49303,AAG23215,BAF82134,AAP15458,AAP15459,AAP15460,AAP15461,CAD98079,CAD98080,Q86UP6,AAI36756 Hs.647182 ERG-1|UO-44 protein-coding 1604821 CWC15 CWC15 homolog (S. cerevisiae) 15342556,12477932,11884590,11042152,10873569,9373149,8889548,8125298 51503 NM_016403,AP002383,CH471065,AF110775,AF161497,AJ250393,AK225956,BC006975,BC032629,BC040946,BM971024,BP231785,BU676427,CA413488,CR596277,CR599874,CR600216 NP_057487,EAW66946,EAW66947,EAW66948,EAW66949,EAW66950,EAW66951,AAF14858,AAF29112,CAB96541,AAH06975,AAH32629,AAH40946,Q9P013 Hs.503597 C11orf5|Cwf15|HSPC148|ORF5 protein-coding 1312323 CWF19L1 CWF19-like 1, cell cycle control (S. pombe) 737633 14702039,12477932,9373149 737633 55280 NM_018294,AL138921,CH471066,AK000876,AK001860,AK023984,AK055313,AK097895,AK225590,AL832515,BC008746 NP_060764,CAH72402,EAW49838,EAW49839,EAW49840,EAW49841,EAW49842,EAW49843,EAW49844,BAA91947,BAB14754,CAH10625,AAH08746,Q69YN2 Hs.215502 FLJ10998|RP11-316M21.3 protein-coding 1320784 CWF19L2 CWF19-like 2, cell cycle control (S. pombe) 737633 16344560,14702039,12477932 737633 143884 NM_152434,AP000766,AP001823,CH471065,AI148333,AK056905,AK126881,AK293001,BC016611,BC028043,BC056241,BC070142,BC107418,BC110439,BC110440,BC110441,BC110442,BC118669,BX647832,BX648704,BX649022,DA291472 NP_689647,EAW67085,EAW67086,BAB71307,BAF85690,AAH28043,AAH56241,AAI10440,AAI10441,AAI10442,AAI10443,AAI18670,Q2TBE0,Q6PIV4 Hs.212140 FLJ32343 protein-coding 735910 CX3CL1 chemokine (C-X3-C motif) ligand 1 1580863 12714508,11777952,17907166,17895402,17885215,17611763,17487393,17471309,17241867,17132725,17082482,17075825,17062081,17002687,16877565,16767549,16645504,16224053,15774461,15726664,15621116,15579768,15529011,15489334,15361546,15223613,15131578,15111313,15013759,14747189,14688370,14665693,14657873,14581400,14580149,14533779,14514721,12969992,12969973,12824004,12810688,12727021,12667665,12639246,12616493,12569179,12551893,12477932,12126650,12125082,12100035,12076860,12055230,12042278,12016106,11909868,11495925,11238035,10940926,10770945,10731151,10640747,10493829,10458770,9931005,9726990,9691168,9390561,9373149,9177350,9024663,17505143,8125298,10869418,9826729,16189514 6376 AC004382,AC009052,CH471092,EF064745,AB209037,AK222692,AK223351,BC001163,BC016164,CR457426,CR595915,U84487,U91835,NM_002996 AAC24307,EAW82919,ABK41928,BAD92274,BAD96412,BAD97071,AAH01163,AAH16164,CAG33707,AAB49679,AAB50014,P78423,Q53FD8,Q53H89,Q59GS2,Q6I9S9,ABM81630,ABM82797,ABM84814,ABM85985,NP_002987 Hs.531668 GDB:6837496 ABCD-3|C3Xkine|CXC3|CXC3C|NTN|NTT|SCYD1|fractalkine|neurotactin protein-coding 1352124 CX3CR1 chemokine (C-X3-C motif) receptor 1 1580863 9931005,10754298,9390561,18391751,18194290,18078680,18060687,17938902,17900259,17895402,17885215,17884099,17804530,17725420,17672867,17653321,17611763,17579663,17505143,17471309,17456471,17241867,17082760,17057786,17002687,16979977,16908772,16865553,16799040,16675737,16645504,16584113,16524739,16480760,16478397,16411402,16317113,16314800,16284527,16224053,16144955,16026776,15886814,15871132,15809764,15726664,15681302,15644279,15579768,15489334,15361546,15347678,15256432,15208270,15131578,15118174,14990582,14747189,14657873,14607932,14581400,12975017,12889997,12646802,12626895,12551893,12545080,12535747,12477932,12459434,12234253,12125082,12110009,12076860,12055230,12032878,11909868,11856781,11818437,11781291,11766992,11535497,11532900,11391174,11264153,10940926,10731151,10702689,9726990,9373149,8125298,7646814,7590284,10869418,11804551,16189514 1524 NM_001337,AC092053,AY016370,CH471055,EF064744,EU006531,AK225764,BC017855,BC028078,BG541473,U20350,U28934 NP_001328,AAK08627,EAW64575,EAW64576,ABK41927,ABS29268,AAH28078,AAA91783,AAA87032,P49238,ABM81989,ABM85169 Hs.78913 GDB:578901 CCRL1|CMKBRL1|CMKDR1|GPR13|GPRV28|V28 protein-coding 1346916 CXADR coxsackie virus and adenovirus receptor The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. 1580863 15958612,15956603,15831949,15800062,15778494,15596863,15533241,15489334,15456946,15364909,15304526,15302935,15173092,14978041,14967025,12920584,12477932,12468544,12297051,12021372,11752156,11734628,11573093,11549277,11479928,11457744,11316797,11080637,10666333,10567268,10543405,10490761,9420240,9144533,15764585,15110532,9036860,9096397,16780588,18081225,17538635,17494992,17278108,17210569,17118917,17031523,16956941,16951199,16937527,16923808,16831563,16284735,16189514,16101391 1525 NM_001338,AF169366,AF200465,AF242865,AP000963,AP000967,CH471079,AF124598,AY072910,AY072911,AY072912,BC003684,BC010536,BM547121,BT019876,CR617256,U90716,Y07593 NP_001329,AAF05908,AAF24344,AAG01088,EAX10030,EAX10031,EAX10032,EAX10033,AAD31772,AAL68878,AAL68879,AAL68880,AAH03684,AAH10536,AAV38679,AAC51234,CAA68868,P78310,ABM82107,ABM85289 Hs.705503 GDB:9835481 CAR|HCAR protein-coding 2291817 CXADRP1 coxsackie virus and adenovirus receptor pseudogene 1 653108 XR_016129,XR_038605,AL050303 CAR|CXADRP pseudo 2291815 CXADRP2 coxsackie virus and adenovirus receptor pseudogene 2 646243 XR_017162,XR_038797,XR_038301,AC068446 pseudo 1345190 CXB3S coxsackie virus B3 sensitivity 1526 GDB:119826 1343759 CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CXC chemokines are further subdivided into ELR and non-ELR types based on the presence or absence of a glu-leu-arg sequence adjacent and N terminal to the CXC motif.[supplied by OMIM] 1580863 9058825,10881932,18283335,18276907,18211687,18065201,18056965,17999991,17703315,17581194,17466952,17456471,17096385,17062666,10820279,9079638,9725262,9551928,17060621,17022986,16617094,16567391,16098041,16086366,15994316,15843053,15492419,15489334,15340161,15218300,14530367,12744776,12734381,12591113,12477932,12388718,12012624,11816717,11524231,11470861,11349045,11023497,10437780,10095777,9152234,8942852,8940121,8702798,8597869,8550564,8397104,8380167,8089846,7806518,7592830,7561066,3264403,2970963,2909392,2890161,2670560,2655583,2217207,2182761,2129556,1906501,1379593,16934308,12089333,11390582,13679391,16189514,15133028 2919 NM_001511,AC092438,CH471057,U03018,X54489,BC011976,BT006880,J03561,X12510 NP_001502,EAX05693,AAA03452,CAA38361,AAH11976,AAP35526,AAA35933,CAA31027,P09341,Q6LD34,ABM84517,ABM85867 Hs.789 GDB:120181 FSP|GRO1|GROa|MGSA|MGSA alpha|MGSA-a|NAP-3|SCYB1 protein-coding 1352024 CXCL10 chemokine (C-X-C motif) ligand 10 This gene encodes a chemokine of the CXC subfamily and ligand for the receptor CXCR3. Binding of this protein to CXCR3 results in pleiotropic effects, including stimulation of monocytes, natural killer and T-cell migration, and modulation of adhesion molecule expression. 1580863 17541284,17505511,17628646,17467667,17364892,17255201,17250724,17244787,17211148,17085967,17052299,17052298,17018607,16969644,16934957,16931519,16920957,16864907,16825597,16733654,16709871,16645011,16581825,16507178,16490936,16210647,16200621,16195357,16181055,10903763,8798675,3925348,18424889,18325387,18275857,18259970,18234638,18085351,18037659,17996064,17963704,17957030,17943641,17912012,17875534,17766680,17763328,17763275,17668902,17652371,15988033,12856973,12847282,12847218,12819903,12819030,12794718,12737818,12718750,12698106,12668159,12667820,12663757,12603854,12584353,12571234,12539042,12477932,12445801,12441140,12393716,12384933,12356205,12270371,12189440,12173928,12162873,12126650,12117926,12117914,12016104,11897701,11867072,11818520,11559369,11467655,11418676,11401991,11390394,11110785,11083865,10982368,10233762,10201901,10201891,9705166,9462486,9060447,9022006,8423327,8145049,2437586,12089333,11878903,16697675,15518810,16189514,12782716,15315758,15944327,15919935,15885315,15880073,15879427,15843529,15814716,15745922,15725351,15644410,15489334,15307834,15150261,15081261,15081247,15063730,14739277,14630801,14600836,14578618,14550288,14507644,12946268,12930373,12884299 3627 NM_001565,AC112719,CH471057,BC010954,BF056337,X02530 NP_001556,EAX05772,EAX05773,AAH10954,CAA26370,P02778,ABM83712,ABM87032 Hs.632586 GDB:119348 C7|IFI10|INP10|IP-10|SCYB10|crg-2|gIP-10|mob-1 protein-coding 1316122 CXCL11 chemokine (C-X-C motif) ligand 11 Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC. This gene is a CXC member of the chemokine superfamily. Its encoded protein induces a chemotactic response in activated T-cells and is the dominant ligand for CXC receptor-3. The gene encoding this protein contains 4 exons and at least three polyadenylation signals which might reflect cell-specific regulation of expression. IFN-gamma is a potent inducer of transcription of this gene. 1580863 10233762,18316607,18275857,18258269,18209084,17363734,17255201,17142784,16368892,16358960,16210647,16200621,16081539,15885315,15814716,15653416,15489334,15308116,15273303,15150261,15122750,12884299,12847282,12787142,12695288,12477932,12169689,12162873,12126650,12055261,11559369,11390394,11110785,10395932,10386863,10065899,9730616,9625760,9370294,8798467,16189514,12782716 6373 CH471057,Y15221,AF002985,AF030514,AF352781,BC005292,BC012532,BC110986,BT006787,U59286,NM_005409,A82120,AC112719,AF053972,AF077867,U66096,Y15220 EAX05774,CAB51859,AAC51845,AAC39775,AAK52900,AAH05292,AAH12532,AAI10987,AAP35433,NP_005400,CAB69205,AAD10206,AAD38327,AAB17374,AAD38867,CAA75510,O14625,Q96KF0,ABM86629,ABW03806 Hs.632592 GDB:9848807 H174|I-TAC|IP-9|IP9|MGC102770|SCYB11|SCYB9B|b-R1 protein-coding 737223 CXCL12 chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1) For background information on chemokines, see CXCL11 (SCYB11; MIM 604852). Stromal cell-derived factors 1-alpha and 1-beta are small cytokines that belong to the intercrine family, members of which activate leukocytes and are often induced by proinflammatory stimuli such as lipopolysaccharide, TNF (see MIM 191160), or IL1 (see MIM 147760). The intercrines are characterized by the presence of 4 conserved cysteines which form 2 disulfide bonds. They can be classified into 2 subfamilies. In the CC subfamily, which includes beta chemokine, the cysteine residues are adjacent to each other. In the CXC subfamily, which includes alpha chemokine, they are separated by an intervening amino acid. The SDF1 proteins belong to the latter group.[supplied by OMIM] 10772939,10491003,10802710,10198043,10620615,10570282,18391751,18386165,18383856,18357387,18317966,18276777,18275857,18227351,18223219,18206727,18205260,18191726,18097955,18086932,18060801,18040858,17982648,17950696,17949547,17923814,17916907,17914737,17898317,17894415,17878755,17846797,17805324,17785557,17784832,17724466,17706641,17681365,8752280,15236615,15235108,15223017,15192272,15166527,15164054,15146553,15140377,15076247,15048928,15033938,15026312,15021309,14995074,14973260,14871974,14764445,14757413,14688392,14684377,14679085,14672915,14630801,14624371,14623290,14600836,14555820,14525775,13130466,12960279,12953097,12907452,12907449,12882655,12865405,12860456,12834106,12817019,12783869,12783211,12775566,12769333,12766157,12761880,12750733,12730110,12705474,12702590,12692604,12605695,12591904,12571520,12557141,12511407,12485835,12482395,12477932,15240098,17653321,17634424,17631494,17604544,17572689,17560067,17559806,17550983,17532557,17530998,17530707,17510563,17507482,17461449,17413295,17409218,17393416,17379424,17357154,17340464,17264079,17245764,17240189,17237407,17197116,17174272,17148615,17143542,17119115,17099730,17082613,17075134,17056591,17046575,17038674,17038526,17034033,17015707,16990599,16977794,16964435,16960937,16948134,16943240,16929176,16923552,16905744,16875673,16865553,16857992,17653799,15819887,15809737,15808852,15805285,15793201,15754978,15753365,15728464,15718416,15718415,15707999,15701832,15699497,15681827,15677562,15641073,15639953,15630457,15630447,15611059,15608062,15588513,15585097,15575507,15548717,15536181,15533859,15504551,15489334,15475370,15467730,15454484,15381727,15358596,15345598,15328206,15319853,15302103,15292258,15286810,16823956,16823836,16818471,16782208,16779827,16756955,16703398,16648972,16626895,16611258,16529059,16507142,16503409,16494621,16489019,16485782,16480760,16306115,16286055,16286054,16284526,16261210,16249700,16227796,16206074,16177829,16159864,16148115,16123688,16114056,16112086,16107333,16033774,15998835,15987445,15980693,15978329,15972632,15965952,15955592,15921680,15917309,15888687,15882617,15872091,15844659,15843590,15840658,15831676,12444109,12436194,12393663,12393569,12370187,12239174,12239139,12215924,12201365,12176869,12149427,12135674,12088413,12068293,12044982,12036857,12036856,12034737,12032878,12004084,12001056,11994484,11988632,11964548,11953881,11950063,11929756,11912162,11898620,11884424,11877260,11870628,11867624,11865429,11860823,11860793,11830456,11729511,11709782,11694103,11693435,11591806,11571304,11504955,11390394,11389173,11328308,11242036,11241273,11027346,11023498,11023492,10954912,10644702,10600606,10583963,10550315,10438529,10358157,10233851,10196252,9743377,9710254,9618518,9558100,9384579,8752281,7490086,16343773,11287575,11162626,10820198,10486323,10430052,9653130,9601645,9744279,10872839,9826729,15972662,12787886,16188969,15748209,15710459,15113900,10582593,8976200,15857508,12354773,15183061 6387 AL713778,AW014388,AY644456,AY874118,BC031072,BC039893,BX647204,CD172464,CR450283,CR615181,DQ345517,DQ345518,DQ345519,AK292628,NM_000609,NM_001033886,NM_199168,AL137026,AY802782,CH471160,CS131913,CS131917,AI092156,AK090482,AK124641,L36033,L36034,U16752,DQ345520 BAF85317,CAD28539,AAT76437,AAW82036,AAH39893,CAG29279,ABC69270,ABC69271,ABC69272,NP_000600,NP_001029058,NP_954637,CAC10202,CAC10203,AAV49999,EAW86618,EAW86619,EAW86620,EAW86621,CAJ21099,CAJ21100,BAC03463,BAC85913,ABC69273,AAB39332,AAB39333,AAA97434,P48061,Q0P674,Q2L985,Q2L986,Q2L988,Q5IT36,Q6ICW0,Q6ZVE9,Q8NF00,Q9H554 Hs.522891 GDB:433267 PBSF|SCYB12|SDF-1a|SDF-1b|SDF1|SDF1A|SDF1B|TLSF-a|TLSF-b|TPAR1 protein-coding 1342514 CXCL13 chemokine (C-X-C motif) ligand 13 (B-cell chemoattractant) B lymphocyte chemoattractant, independently cloned and named Angie, is a CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer's patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt's lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles. 1580863 9486651,17949547,17709502,17652619,17592274,17495955,17474076,17082648,17082584,16678487,16543475,16318584,15965952,15934082,15929033,15780119,15546958,15489334,15284119,14763921,12732660,12477932,12406091,12393412,11877260,11708770,11554781,10706668,9463416,16189514 10563 NM_006419,AC092674,AC093758,CH471057,AF029894,AF044197,AJ002211,BC012589,CR407624 NP_006410,AAY40955,EAX05816,EAX05817,AAC17980,AAC14402,CAA05250,AAH12589,CAG28552,O43927,Q53X90 Hs.100431 GDB:9957662 ANGIE|ANGIE2|BCA-1|BCA1|BLC|BLR1L|SCYB13 protein-coding 1316586 CXCL14 chemokine (C-X-C motif) ligand 14 This gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. 1580863 10049774,11256614,18054154,16987528,16884687,16381901,16303743,16175604,15843547,15651028,15548693,15489336,15489334,14702039,12975309,12477932,11561000,11076863,10946286,10854217 9547 NM_004887,AC034206,CS051437,AF073957,AF086340,AF106911,AF144103,AI743431,AK056613,AK075514,AY358906,BC003513,BT007080,CR618515 NP_004878,CAI72212,AAD03839,AAF78449,AAD38944,AAQ89265,AAH03513,AAP35743,O95715,Q0JUU3,Q9NS21,CAL37718 Hs.483444 GDB:9957315 BMAC|BRAK|KS1|Kec|MGC10687|MIP-2g|NJAC|SCYB14|bolekine protein-coding 1343594 CXCL15 chemokine (C-X-C motif) ligand 15 337989 AF082859 GDB:11510835 1354459 CXCL16 chemokine (C-X-C motif) ligand 16 1580863 11060282,11290797,11017100,18373975,18279707,18250446,18248772,18195710,17855433,17363916,17300746,16849465,16431903,16200580,16142401,15934948,15883016,15836657,15634930,15555552,15489334,15128827,14988089,14702039,14699018,14634054,14625285,12975309,12902461,12477932,17803654 58191 NM_022059,NM_001100812,AC091153,CH471108,EF064742,AF275260,AF301016,AF337812,AK027389,AK292114,AY358909,BC017588,BC044930,CA307348,CR611932,CR623711,DC373874 NP_071342,NP_001094282,EAW90416,ABK41925,AAG31750,AAG34365,AAK38275,BAB55078,BAF84803,AAQ89268,AAH44930,AAH17588,Q9H2A7 Hs.708201 GDB:11502848 CXCLG16|SR-PSOX|SRPSOX protein-coding 1602051 CXCL17 chemokine (C-X-C motif) ligand 17 17201934,16989774,16455961,15340161,12975309,12477932 284340 NM_198477,AC011497,AK292985,AY358433,AY598464,BC093946,BC112095 NP_940879,BAF85674,AAQ88799,AAU04875,AAH93946,AAI12096,Q6UXB2 Hs.445586 DMC|Dcip1|MGC138300|UNQ473|VCC-1|VCC1 protein-coding 1353345 CXCL1P chemokine (C-X-C motif) ligand 1 pseudogene 9524820 50612 NG_001275,U88432 GDB:10796218 GRO1P|GROP|MGSAP|SCYB1P pseudo 735621 CXCL2 chemokine (C-X-C motif) ligand 2 1580863 9873037,2643119,17999991,17944017,17466952,16697212,16421598,15614130,15489334,12892904,12556377,12508094,12477932,12419803,11559650,11134351,10928473,10725737,10600366,9843467,9277410,9260277,8702798,7864661,2341726,2217207,2201751,2129556,2078213,1906501,17700490,16189514 2920 NM_002089,AC093677,CH471057,U03019,AF043340,BC015753,BC053653,BX334969,CR542171,CR617096,M36820,M57731,X53799 NP_002080,EAX05700,EAX05701,AAA03453,AAC03540,AAH15753,CAG46968,AAA63183,AAA63182,CAA37808,P19875,Q6FGD6,Q6LD33 Hs.590921 GDB:127392 CINC-2a|GRO2|GROb|MGSA-b|MIP-2a|MIP2|MIP2A|SCYB2 protein-coding 1348459 CXCL3 chemokine (C-X-C motif) ligand 3 1580863 9873037,17466952,17389786,16356540,16341674,15489334,15340161,12734364,12477932,10095777,9322516,9277410,8702798,8344798,8166297,2217207,2201751,2129556,1906501,16189514 2921 NM_002090,AC097709,U03020,AW079760,BC016308,BC065743,BM828712,CR591181,M36821,X53800,CH471057 NP_002081,EAX05697,EAX05698,AAA03454,AAH16308,AAH65743,AAA63184,CAA37809,P19876,Q4W5H9,Q6LD32,ABW03903,AAY41006 Hs.89690 GDB:127393 CINC-2b|GRO3|GROg|MIP-2b|MIP2B|SCYB3 protein-coding 1348297 CXCL5 chemokine (C-X-C motif) ligand 5 The protein encoded by this gene is an inflammatory chemokine that belongs to the CXC chemokine family. This chemokine is produced concomitantly with interleukin-8 (IL8) in response to stimulation with either interleukin-1 (IL1) or tumor necrosis factor-alpha (TNFA). This chemokine is a potent chemotaxin involved in neutrophil activation. 1580863 10820279,7929219,10463948,18413816,18320069,1744577,16189514,15714497,15489334,15021975,14967364,14711052,14644041,13679391,13679321,12950257,12751040,12680872,12665801,12477932,12468547,11468158,11106948,10095777,10068592,9692902,9365115,9252512,8702798,8580362,8083342,7999089,7828901,16567110,17878384,17549409,17479287,17428364,17052298,17022986,16635746,16574090 6374 NM_002994,AC097709,AF349466,AJ315732,CH471057,L37036,U12709,AK026546,BC008376,BT006807,BU169770,BU626570,CB529782,CR457428,X78686 NP_002985,AAY41005,AAK29641,CAC42884,EAX05696,AAA86426,AAA62475,AAH08376,AAP35453,CAG33709,CAA55355,P42830,Q6I9S7,ABM86473,ABW03807 Hs.89714 GDB:3888212 ENA-78|SCYB5 protein-coding 1345336 CXCL6 chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) 1580863 8399143,9164944,17827342,17022986,15815621,15652347,15489334,15214047,12882792,12628493,12591113,12533683,12524079,12477932,10593335,10343098,9692902,9465307,9057843,8423327,12950257,16189514 6372 NM_002993,AC108029,CH471057,U83303,BC013744,CR614096,CR623302,U81234,Y08770 NP_002984,AAY40939,EAX05690,AAC51337,AAC51338,AAH13744,AAD00506,CAA70023,O00172,P80162,ABM82426,ABM85618 Hs.164021 GDB:7162805 CKA-3|GCP-2|GCP2|SCYB6 protein-coding 1348195 CXCL9 chemokine (C-X-C motif) ligand 9 The function of this gene has not been specifically defined; however, it is thought to be involved in T cell trafficking. This gene has been localized to 4q21 with INP10, which is also a member of the chemokine family of cytokines. 1580863 10903763,8476424,10570316,10201891,10201901,17975089,17892861,17875534,17703315,17490641,17262710,17255201,16583210,16210647,16200621,15489334,15150261,15113590,15081261,14550288,14507644,12946268,12884299,12856973,12847282,12782716,12539042,12477932,12384933,12270371,12185171,12162873,12107104,11523044,11449350,11423172,11422029,11390394,11208713,11157474,11110785,10233762,9730616,9660793,8976378,7595201,2115167 4283 CH471057,BC025745,BC042178,BC063122,BC095396,X72755,NM_002416,AC112719 EAX05763,EAX05764,AAH63122,AAH95396,CAA51284,Q07325,NP_002407 Hs.77367 GDB:1278218 CMK|Humig|MIG|SCYB9|crg-10 protein-coding 1350447 CXCR3 chemokine (C-X-C motif) receptor 3 CD183 is a G protein-coupled receptor with selectivity for three chemokines, termed IP10 (interferon-g-inducible 10 kDa protein), Mig (monokine induced by interferon-g) and I-TAC (interferon-inducible T cell a-chemoattractant). IP10, Mig and I-TAC belong to the structural subfamily of CXC chemokines, in which a single amino acid residue separates the first two of four highly conserved Cys residues. Historically, CD183 is the third CXC chemokine receptor discovered and, therefore, commonly designated as CXCR3. Binding of chemokines to CD183 induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration. Inhibition by Bordetella pertussis toxin suggests that heterotrimeric G protein of the Gi-subclass couple to CD183. Signal transduction has not been further analyzed but may include the same enzymes that were identified in the signaling cascade induced by other chemokine receptors. As a consequence of chemokine-induced cellular desensitization (phosphorylation-dependent receptor internalization), cellular responses are typically rapid and short in duration. Cellular responsiveness is restored after dephosphorylation of intracellular receptors and subsequent recycling to the cell surface. A hallmark of CD183 is its prominent expression in in vitro cultured effector/memory T cells, and in T cells present in many types of inflamed tissues. In addition, IP10, Mig and I-TAC are commonly produced by local cells in inflammatory lesion, suggesting that CD183 and its chemokines participate in the recruitment of inflammatory cells. Therefore, CD183 is a target for the development of small molecular weight antagonists, which may be used in the treatment of diverse inflammatory diseases. 633970,1598500,1580863,1598501,1598502 10942362,10741397,10903763,10903743,9064356,18037659,17947699,17912012,17615381,17560677,17457216,17363734,17339184,17251291,17142784,17142783,17018607,16934957,16930533,16861617,16847335,16806233,16787707,16733654,16679918,16456020,16455991,16368892,16339779,16127166,16043121,16034118,16033640,15885315,15879427,15856455,15843529,15808644,15725351,15713799,15687242,15578697,15528361,15501397,15489334,15328188,15273303,15265234,15254596,15181567,15155273,15150261,15126579,14742268,14657006,14630801,14618028,14578618,12960302,12960247,12953097,12919091,12884299,12819030,12782716,12750173,12688353,12571234,12517959,12477932,12445801,12444109,12425561,12356205,12270371,12097412,12070001,12055238,12016104,11990865,11966764,11739530,11714650,11559369,11554781,11196695,11160352,11134180,10900358,10666479,10627472,10393705,10233762,9660793,9625760,9466968,9419219,8666380,15518810,16189514 633970,1598500,1598501,1598502 2833 AL590763,CH471132,CQ834242,U32674,Z79783,AF469635,AY242128,BC034403,X95876,NM_001504,AB032735,AB032736 BAA92298,EAX05283,CAH05336,AAC50505,CAB02143,AAP55851,AAO92295,AAH34403,CAA65126,P49682,ABM83386,ABM86599,NP_001495,BAA92297 Hs.198252 GDB:392089 CD182|CD183|CKR-L2|CMKAR3|GPR9|IP10|IP10-R|Mig-R|MigR protein-coding 732176 CXCR4 chemokine (C-X-C motif) receptor 4 This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 734860 9468539,12421915,10754293,10644702,10570282,10942389,10802710,10228019,8276799,12091904,15174142,10583963,10415069,10393923,18461161,18357387,18339870,18339860,18288973,18274673,18239145,18235009,18234887,18219852,18210030,18206727,18201276,18200497,18155192,18097955,18089812,18083706,18081034,18040858,18037996,18036244,17964871,17947541,17947233,17916907,17894415,17893878,17889832,17888880,17881971,17875700,17846797,17765649,17763975,17176471,17136117,17130833,17119115,17082613,17075975,17070589,17056591,17038674,17032700,17023512,16990599,16987062,16969502,16948134,16946301,16943240,16929176,16929169,16928758,16919488,16888620,16886061,16877302,16863915,16823836,16802356,16756955,16756721,16740704,16679918,16675573,16638848,16618732,16585856,16528367,16494621,16489019,16467205,16368946,16365278,16327980,16322285,16284526,16230077,16204649,16179731,16172123,16114056,16084492,16047221,16044003,15998835,15995960,15880586,15867478,15844659,15843590,15831676,15819887,15814634,15806155,15805285,15802268,15794931,15787642,15784966,15781337,15753377,15737629,15705741,15701832,15687242,15681827,15670831,15662133,15660419,15650174,15632118,15618472,15615703,15608062,15598422,15588345,15585836,15585097,15549771,15548717,15548713,15542430,15540205,15536192,15492752,15489334,15486895,15467730,15454484,15377464,15363550,15358596,15328206,15328152,17188679,14597738,14595012,14576059,14567988,14555820,13679920,12960231,12927045,12894851,12882661,12882655,12853157,12832058,12791666,12783211,12775414,12766157,12761880,12730102,12726730,12705474,12692554,12690099,12651900,12634405,12609846,12605695,12586555,12555204,12555203,12531874,12519884,12519755,12499259,12488503,12485835,12477932,12477874,12433920,12429730,12393663,12393569,12388552,12370187,12368322,12368305,12356205,12355376,12351385,12239174,12239139,15251986,15235108,15225616,15201990,15184910,15180966,15169555,15128813,15123627,15117454,15054042,15048928,15033938,15033669,15026622,15019705,14995074,14990729,14988150,14982745,14973260,14764445,14715575,14688392,14684377,14672915,14672331,14630801,14602072,17715128,17706641,17676665,17641542,17634424,17620369,17606439,17596666,17594938,17574038,17562613,17559806,17521613,17510563,17507486,17504381,17488655,17461449,17459055,17435771,17379424,17350297,17346946,17328838,17327270,17262717,17253948,17251291,17202224,17198877,17715399,10438703,10358157,15719026,15327899,11602639,11462036,11141237,10704341,10623764,16188969,15710459,12857973,11698270,10758170,11533159,11162839,11069996,10941932,11711593,11468147,11390582,12873764,11591141,11119612,16227248,11711617,11709091,11689632,11679153,11529558,11390601,11278567,11877445,11799176,11931835,12551992,12218052,12208881,12193696,12171912,12163560,12093918,12034737,12004084,11994538,11994484,11983855,11953881,11937572,11929756,11920324,11912162,11880384,11878912,11876757,11867624,11693435,11668182,11559423,11278278,11175286,11157475,11027346,10772939,10756055,10506573,10480633,10452968,10233851,11591370,16697675,9362541,16378977,15890935,12490404,11153675,11118068,10544150,10357469,10329539,9653051,9600268,9261451,9184207,12502809,10860877,10825158,9151868,16306611,15992849,15748209,15351504,15279544,15113900,14990703,12963807,12873765,12834106,12713058,11595336,11162626,10602722,9770524,9632631,9359702,9031325,8976200,11861874,15972662,12843275,11752220,11602715,16005638,15258189,15161081,14694113,14640682,14505910,12871111,9710449,8640552,16375941,16631222,16978607,16524887,17010165,17011204,16841089,17121788,16784459,11551942,11414813,11413305,11333905,10651866,10446313,10393974,9658081,9653130,9601645,9696823,9780207,16966601,16769099,16702010,11356952,10801487,9721247,9614108,9744279,15479838,15308751,15047829,10864687,10559349,10438870,10339592,10229873,11342415,15509740,10089882,10074122,9973525,9933168,9879064,9765440,9634238,9634237,9599023,9461627,9379028,8929542,8849450,8752281,8752280,8674119,8629022,8329116,8325644,8234909,7592830,7505609,15183061,11517394,11489906,11464139,11426226,11408611,11397808,11356967,11313374,11265761,11264367,11115360,11086073,11024154,11005830,10903920,10903911,10877489,10875613,10816381,10738970,10669334,10600606,10590121,10590105,10585143,10582593,10555208,10505675,10487781,10482576,10449282,10430052,10371171,10370370,10364484,10029247,9882290,9736741,9499115,9499113,9302439,9300725,9024623,9020356,8995603,8898753,8805353,118789,12354773,15452229,15857508,16189514 734860 7852 NM_003467,NM_001008540,AB065584,AC068492,AF005058,AF052572,AJ224869,AY728138,CH471058,Y14739,AF025375,AF147204,AF348491,AK129916,AY242129,AY826773,BC020968,BT006660,CR594428,CR594588,CR596547,CR598681,CR598713,CR601301,CR604071,CR605131,CR610268,CR614199,CR614594,CR614663,CR619476,CR623838,D10924,L01639,L06797,M99293,X71635 NP_003458,NP_001008540,BAC05813,AAY24044,AAB93982,AAC34581,CAA12166,AAU05775,EAX11616,CAA75034,AAB81970,AAF00130,AAK29630,AAO92296,AAV97584,AAH20968,AAP35306,BAA01722,AAA16594,AAA03209,AAA16617,CAA50641,P61073,Q53S69,Q5MIL4,Q8NH28,Q9BXA0 Hs.593413 GDB:230002 CD184|D2S201E|FB22|HM89|HSY3RR|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM chemokine receptor (lcr1) protein-coding 1345690 CXCR5 chemokine (C-X-C motif) receptor 5 This gene was identified as a gene specifically expressed in Burkitt's lymphoma and lymphatic tissues. The protein encoded by this gene is predicted to be a seven transmembrane G protein- coupled receptor and belongs to the CXC chemokine receptor family. BLC, a B-lymphocyte chemoattractant, was identified to be a specific ligand for this receptor. Studies of this gene and its mouse conterpart strongly suggest the essential function of this gene in B cell migration and localization within specific anatomic compartments, such as follicles in lymph nodes as well as in spleen. Two alternatively spliced variants of this gene exist. 1580863 1425907,17786442,17652619,17018614,17015714,16888899,16344560,16318584,16225771,15780119,15713799,15580304,14763921,14618028,12620646,12578791,12477932,12447991,12324654,12171958,12070001,11714765,11688722,9486651,9463416,7639692 643 NM_001716,NM_032966,AP004609,CH471065,EF064770,EF444957,AK291512,BC110352,DA815880,X68149,X68829 NP_001707,NP_116743,EAW67415,EAW67416,ABK41953,ACA05956,BAF84201,AAI10353,CAA48252,CAA48723,P32302,Q2YD84 Hs.113916 GDB:136235 BLR1|CD185|MDR15|MGC117347 protein-coding 1352090 CXCR6 chemokine (C-X-C motif) receptor 6 1580863 9166430,9230441,17725420,17640964,17615381,16870145,16200580,15817921,15736401,15650194,15489334,14634054,12914753,12761559,12477932,12070001,12044980,11290797,11017100,10975845,10933620,9285716,16470129,15992849,15053339,10877489,11711593,10590105,9736741 10663 NM_006564,AC099782,AF029759,AY322543,CH471055,EF064741,EU076974,AF007545,BC033584,CR624554,U73529,U73531,Y13248 NP_006555,AAG21918,AAP84356,EAW64754,ABK41924,ABV02579,AAB64221,AAH33584,AAB61456,AAB61457,CAA73698,O00574,ABM83027,ABM86220 Hs.34526 GDB:9958108 BONZO|CD186|STRL33|TYMSTR protein-coding 1343702 CXCR7 chemokine (C-X-C motif) receptor 7 This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. 1580863 18057003,17898181,17363734,16940167,16455976,16107333,15815621,15489334,12477932,12118328,10623723,8198609,1675791,1662665,1315461 57007 NM_020311,AC079611,CH471063,U73141,AF030297,AK291659,BC008459,BC036661,BM925428,BP426139,CR616388,DB455412,DQ822477,M64749,U67784 NP_064707,AAX93086,EAW71092,AAB18130,AAB94130,BAF84348,AAH36661,ABH01258,AAA62370,AAB16913,P25106,ABM82167,ABM85352 Hs.471751 CMKOR1|GPR159|RDC1 protein-coding 1321844 CXXC1 CXXC finger 1 (PHD domain) Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate gene expression (Carlone and Skalnik, 2001 [PubMed 11604496]).[supplied by OMIM] 1580863 10688657,17328666,16713569,16253997,15761153,15489334,12477932,12200428,11604496,11572867,11256614,11230166,10799292 30827 NM_001101654,NM_014593,AC090246,CH471096,AA236925,AB031069,AB209883,AF149758,AL136862,BC002504,BC009188,BC014940,BC015733,BC029922,BX647189,CR590242,CR604821,CR604901,CR621333 NP_001095124,NP_055408,EAW62968,EAW62969,EAW62970,BAA96307,BAD93120,AAF37799,CAB66796,AAH14940,AAH15733,AAH29922,Q59EC8,Q9P0U4,ABM92247,ABM84724 Hs.180933 2410002I16Rik|5830420C16Rik|CFP1|CGBP|HsT2645|PCCX1|PHF18|SPP1|hCGBP protein-coding 1354389 CXXC4 CXXC finger 4 68802,1580863 11113207,12477932 68802 80319 NM_025212,AC093628,CH471057,AF272159,AK127778,BC119751,BC119752 NP_079488,AAY40933,EAX06175,AAG42072,AAI19752,AAI19753,Q9H2H0 Hs.12248 IDAX|MGC149872 protein-coding 1345048 CXXC5 CXXC finger 5 737633,1580863 15231748,14702039,12761501,12477932,11042152,9110174,8619474,16189514 737633 51523 AC113361,CH471062,AB097005,AB097032,AF151029,AK001782,AK024338,AY007103,BC002490,BC006428,NM_016463,BC017439,BC024040,BC041013,BC050046,CR611313,CR614582 NP_057547,EAW62090,EAW62091,EAW62092,EAW62093,BAC77358,BAC77385,AAF36115,BAA91907,AAG01986,AAH02490,AAH06428,AAH17439,AAH24040,AAH41013,Q7LFL8,ABM83515,ABM86733 Hs.189119 HSPC195 protein-coding 1626694 CXXC6P1 CXXC finger 6 pseudogene 1 441662 AL445647 pseudo 1602636 CXYorf10 chromosome X and Y open reading frame 10 14702039,12477932 283981 AK023454,BC041934 Hs.655842 protein-coding 1605742 CXYorf11 chromosome X and Y open reading frame 11 677739 NG_005526,AL954722 pseudo 1345758 CXYorf2 chromosome X and Y open reading frame 2 14702039 80161 NM_025091,AK023392 1625845 CXYorf6 chromosome X and Y open reading frame 6 100048902 AL683807 protein-coding 1603233 CXYorf8 chromosome X and Y open reading frame 8 8889549,8048971 751580 D29222,H65775,H65776,R00579 Hs.495569 protein-coding 1352055 CXorf1 chromosome X open reading frame 1 15772651,15489334,12477932,9881668,9110174,8619474 9142 NM_004709,AL109653,CH471175,Y10607,AF007148,AL134413,BC113600,BC113604,Y08902 NP_004700,EAW53956,CAA71614,AAI13601,AAI13605,CAA70110,O96002 Hs.106688 GDB:9865690 MGC142160|MGC142164 protein-coding 1346238 CXorf10 chromosome X open reading frame 10 14702039 93949 AK021694 Hs.504534 FLJ11632 protein-coding 1347306 CXorf15 chromosome X open reading frame 15 18068885,17081983,16964243,15911876,15184072,14702039,12477932 55787 NM_018360,AL929302,BX004861,CH471074,AF143740,AK002071,AK123142,AY739713,BC101572,BC101576 NP_060830,CAI41279,EAW98918,AAF70546,BAA92068,AAW65982,AAI01573,AAI01577,Q2KQ75,Q5HYX5,Q9NUQ3 Hs.555961 GDB:11510700 FIAT|FLJ11209|LSR5|MGC126621|MGC126625 protein-coding 1605147 CXorf18 chromosome X open reading frame 18 14702039 619455 Q5JXP8,Q8N9U9 XR_018001,AK093505 BAC04188,Q5JXP8,Q8N9U9 Hs.590784 FLJ36186 protein-coding 1604407 CXorf19 chromosome X open reading frame 19 727686 NG_005696,AL035262 CAI42898 pseudo 1350095 CXorf20 chromosome X open reading frame 20 737633 16713569,15772651,15489334,12477932 737633 139105 NM_153346,AL096763,CH471074,AK128155,BC037301,BC096745 NP_699177,CAI42219,EAW98936,AAH37301,AAH96745,Q4V9S2,Q8NDZ0,ABM83396,ABM86609 Hs.403802 MGC33653 protein-coding 1347440 CXorf21 chromosome X open reading frame 21 737633 15489334,14702039,12477932 737633 80231 NM_025159,AC005913,CH471074,AK021639,BC020611 NP_079435,EAW99052,BAB13860,AAH20611,Q9HAI6 Hs.665009 FLJ11577 protein-coding 1352989 CXorf22 chromosome X open reading frame 22 737633 16344560,15772651,15489334,14702039,12477932 737633 170063 NM_152632,AL590065,CH471074,AK126295,BC027936,DA315191,DV080631 NP_689845,CAI40038,EAW99074,EAW99075,BAC86517,AAH27936,Q6ZTR5 Hs.680415 MGC34831 protein-coding 1348660 CXorf23 chromosome X open reading frame 23 14702039,12477932 256643 NM_198279,AL772197,CH471074,AK094661,AK127709,AL833278,BC126172 A2AJT9,Q5VSM8,NP_938020,CAH71712,CAH71713,CAM15087,EAW98968,EAW98969,EAW98970,BAC04399,BAC87094,AAI26173 Hs.28896 protein-coding 1350751 CXorf24 chromosome X open reading frame 24 737633 12477932 737633 203414 XM_926772,XM_937342,Z84466,BC025179 XP_931865,XP_942435,CAI42471,AAH25179,Q8TB33 Hs.597617 protein-coding 1348142 CXorf25 chromosome X open reading frame 25 14702039 286403 AK094108 Hs.562045 FLJ36789 protein-coding 1344013 CXorf26 chromosome X open reading frame 26 737633 15790807,15489334,12477932,11042152 737633 51260 NM_016500,AC004677,CH471104,CS072317,AY927616,BC001220,BC051894 NP_057584,EAW98621,EAW98622,EAW98623,EAW98624,CAI93455,AAH01220,AAH51894,Q9BVG4,Q9P0N4 Hs.370100 MGC874 protein-coding 1353521 CXorf27 chromosome X open reading frame 27 12477932,9700202 25763 NM_012274,AL121578,CH471141,AF049615,AW291697,BC104428,BC104429,BC113024,BC113025 NP_036406,EAW59451,AAC26851,AAI04429,AAI04430,AAI13025,AAI13026,O75409 Hs.122959 1700054O13Rik|HIP17|HYPM protein-coding 1602943 CXorf30 chromosome X open reading frame 30 11329013 645090 XM_001713664,XM_001713662,NM_001098843,AL606467,AL606516,AI648401,AI822140,BG186336,BG197183,BX111076,CD106515,DV080305,DV080613,DY655297,XM_001713663 XP_001713715,XP_001713716,XP_001713714,NP_001092313,CAO72050,Q5JQZ5,Q5JQZ6 Hs.632791 RP11-87M18.1 protein-coding 1350620 CXorf34 chromosome X open reading frame 34 737633 14702039,12477932 737633 79979 AL109952,AL133275,CH471115,Z97985,AK022749,AL832849,NM_024917,BC007526,BC008067,BC009437,BC020116,BC034272,BX647969,CR605503 NP_079193,CAI42997,CAI42998,CAI42155,CAI42156,EAX02831,EAX02832,EAX02833,EAX02834,EAX02835,EAX02836,EAX02837,EAX02838,BAB14223,CAI46112,AAH07526,AAH08067,AAH09437,AAH20116,AAH34272,Q5JVY5,Q96GJ1 Hs.496501 FLJ12687|dJ341D10.3 protein-coding 1347092 CXorf35 chromosome X open reading frame 35 389878 XM_374333 1343794 CXorf36 chromosome X open reading frame 36 1304513 14702039,12975309,12477932,11944989,11181995 1304513 79742 NM_024689,AC136488,AC136489,CH471164,AF289581,AK024165,AK055190,AK056730,AK094014,AK094877,AY358764,BC035375,BC137528,BC137529,CR627166 NP_078965,EAW59250,EAW59251,EAW59252,EAW59253,AAL55765,BAB14843,BAC04447,AAQ89124,AAI37529,AAI37530,Q8N1U0,Q8WZ11,Q9H7Y0 Hs.98321 4930578C19Rik|DKFZp313K0825|EPQL1862|FLJ14103|PRO3743|bA435K1.1 protein-coding 1352581 CXorf38 chromosome X open reading frame 38 15489334,14702039,12477932 159013 NM_144970,AC092473,AC093029,CH471141,AK095710,AK123989,AL832829,BC025334 NP_659407,EAW59421,EAW59422,EAW59423,BAC04615,CAI46149,AAH25334,Q8TB03,ABM83078,ABM86274 Hs.495961 MGC39350 protein-coding 1348985 CXorf39 chromosome X open reading frame 39 15772651,15489334,14702039,12477932 139231 NM_207318,AL049631,AL135959,CH471120,AK024844,AK091221,BC016683,BC017665,BC035886,BC057847 NP_997201,EAX02757,EAX02758,EAX02759,EAX02760,AAH16683,AAH17665,AAH57847,Q6PEV8 Hs.592223,Hs.496535 protein-coding 1344025 CXorf40A chromosome X open reading frame 40A 15541360,15772651,15489334,14702039,12477932,10848801,9147653,8717057 91966 NM_178124,AF011889,CH471171,AK055235,AK291899,AY074889,BC065539,BC104930,BC104932,CR596674,CR603774,CR605567,CR605594,CR614537,CR614798,CR617998,CR626827 NP_835225,EAW61276,EAW61277,EAW61278,EAW61279,BAF84588,AAL71889,AAH65539,AAI04931,AAI04933,Q8TE69 Hs.654738 CXorf40|EOLA1 protein-coding 1604879 CXorf40B chromosome X open reading frame 40B 16341674,15772651,15489334,12477932,9147653,8717057 541578 NM_001013845,BX927209,BC009523,BM847839,L43575,L43578,U66042 NP_001013867,CAI43190,CAI43191,AAH09523,Q5HY62,Q96DE9 Hs.545950 protein-coding 1353450 CXorf41 chromosome X open reading frame 41 737633 15772651,15489334,12601173,12477932 737633 139212 NM_173494,AL136112,CH471120,AY211928,BC033510 NP_775765,CAB92764,EAX02716,EAX02717,AAO65181,AAH33510,Q9NQM4 Hs.128836 MGC35261 protein-coding 1350809 CXorf42 chromosome X open reading frame 42 158801 NM_173522,AK093895 1351399 CXorf45 chromosome X open reading frame 45 9373149,15772651,15489334,14702039,12477932,8125298,7505766 79868 XM_001713668,XM_001713667,AL049563,AL096764,AK026671,AK223154,BC117377,BC117379 XP_001713720,XP_001713719,BAB15521,BAD96874,AAI17378,AAI17380,Q9H5U8 Hs.443061 FLJ23018 protein-coding 1602011 CXorf46 chromosome X open reading frame 46 727694 AW161363 Hs.571694 protein-coding 1603232 CXorf47 chromosome X open reading frame 47 751581 BE732529,BE901994 protein-coding 1353544 CXorf48 chromosome X open reading frame 48 737633 15772651,15489334,14702039,12477932 737633 54967 NM_017863,NM_001031705,AL670455,CH471107,AF520814,AK000534,AK123302,AY352211,BC020662 NP_060333,NP_001026875,CAI41607,CAI41608,EAX11734,AAP47205,BAA91237,AAQ90022,AAH20662,Q8WUE5 Hs.272804,Hs.656427 FLJ20527|RP13-565O16.1 protein-coding 1354319 CXorf50 chromosome X open reading frame 50 737633 737633 203429 NM_152693,BC025725 1626521 CXorf50B chromosome X open reading frame 50B 16382448 729488 XM_001715857 XP_001715909 protein-coding 2293161 CXorf51 chromosome X open reading frame 51 100129239 XM_001720768,XM_001721645,AL109836,AA723770 XP_001720820,XP_001721697 Hs.98197,Hs.592233 protein-coding 1347573 CXorf52 chromosome X open reading frame 52 286967 NM_173168,AY168775 1603201 CXorf56 chromosome X open reading frame 56 17353931,14702039,12477932 63932 NM_022101,AC004000,AC004913,AC005190,CH471161,AK026618,AK096297,BC023506 NP_071384,AAB96348,EAW89864,EAW89865,EAW89866,EAW89867,BAB15510,AAH23506,Q9H5V9 Hs.248572 FLJ22965 protein-coding 1605981 CXorf57 chromosome X open reading frame 57 15772651,15489334,14702039,12477932 55086 NM_018015,AL590808,AL606833,CH471120,AK001040,AK024253,AK291730,BC011483,BC033709,BC047503,BC054032,BC070110 NP_060485,EAX02738,EAX02739,EAX02740,EAX02741,BAA91477,BAB14859,BAF84419,AAH11483,AAH33709,AAH54032,AAH70110,Q5JQS0,Q6NSI4,Q9H7W5 Hs.274267 FLJ10178|FLJ14191|RP11-647M7.1 protein-coding 1605257 CXorf58 chromosome X open reading frame 58 15772651,15489334,14702039,12477932 254158 NM_152761,AC079376,CH471074,AK058173,BC117344,BC117346,CR619818 NP_689974,EAW99005,EAW99006,BAB71702,AAI17345,AAI17347,Q96LI9 Hs.351265 FLJ25444 protein-coding 1605820 CXorf59 chromosome X open reading frame 59 15772651,15489334,14702039,12477932 286464 NM_173695,AL590065,AL603753,CH471074,AK093920,BC101698,BC101700 NP_775966,CAI41404,EAW99076,BAC04251,AAI01699,AAI01701,Q8N9S7 Hs.376425 FLJ36601|MGC126747|MGC126749|RP13-11B7.1 protein-coding 1605263 CXorf61 chromosome X open reading frame 61 16651449,12477932 203413 NM_001017978,AX061661,CH471234,Z96810,AK000618,AK026566,BC062223 NP_001017978,CAC25021,EAW51499,CAI42798,AAH62223,Q5H943 Hs.97892 FLJ20611|FLJ22913|KK-LC-1|RP3-452H17.2 protein-coding 1626579 CXorf62 chromosome X open reading frame 62 14702039 439943 AL353140,AK090929 BAC03549,Q8N2A0 FLJ33610|RP13-153N15.1 protein-coding 1322199 CYB561 cytochrome b-561 1580863 7980462,14499595,18180394,15489334,14702039,12837283,12768339,12477932,7959749,7559396,7096323 1534 BT007096,CR624200,NM_001915,NM_001017916,NM_001017917,AC005828,CH471109,AK095244,BC000021,BC002976,BC091485,BF206825,BM552101 AAP35760,P49447,NP_001906,NP_001017916,NP_001017917,EAW94322,EAW94323,EAW94324,EAW94325,EAW94326,AAH00021,AAH02976,AAH91485 Hs.355264 GDB:228138 FRRS2 protein-coding 1321956 CYB561D1 cytochrome b-561 domain containing 1 1580863 16710414,15489334,14702039,12477932 284613 NM_182580,AL355145,CH471122,AK096354,AK126707,AK128798,BC093683,BC111999,BX647509 NP_872386,CAI22939,CAI22940,CAI22941,EAW56388,BAC04767,BAC86652,BAC87612,AAH93683,AAI12000,Q6ZQS1,Q8N8Q1 Hs.514682 FLJ39035|FLJ44753|MGC138204|RP5-831G13.3 protein-coding 1353992 CYB561D2 cytochrome b-561 domain containing 2 1580863 16641997,15489334,12477932,11085536,9122200 11068 AF040704,AK291167,BC047691,BX641103,CR598666,CR612474,CH471055,NM_007022,AC002481 EAW65114,AAC70911,BAF83856,AAH47691,O14569,EAW65113,NP_008953,AAB67309 Hs.149443 101F6|TSP10 protein-coding 736806 CYB5A cytochrome b5 type A (microsomal) 1599659,1599663,1580863 15489334,14985252,14739275,14733950,12477932,11867265,11329013,9813010,9760250,9601054,9398194,8262522,7733981,7649306,6102994,5062820,4993957,4770377,4373719,4030743,3951505,3178851,2752049,2123873,1840560,1396600,221468,199233,16189514,7668255,1712589,17691855,17622936,17446262,17320757,16679316,15831526,15687493 1599659,1599663 1528 BC015182,BG196223,CB112646,CR456990,M22865,M22976,NM_148923,NM_001914,AC090398,CH471117,L39945,AB209617,AK026310,M60174,S76422 AAH15182,CAG33271,AAA35729,NP_683725,NP_001905,EAW66544,EAW66545,AAA63169,BAD92854,AAA52133,AAA52165,P00167,Q59F44,Q6IB14,Q9UML1,ABM82209,ABM85269 Hs.465413 GDB:125236 CYB5|MCB5 cytochrome b5 protein-coding 735287 CYB5B cytochrome b5 type B (outer mitochondrial membrane) 14702039,12477932,12417987,11867265,14739275,15489334,14733950 80777 AC009032,AC026464,CH471092,AB009282,AK098148,AK125218,AK291576,BC004373,BC014431,BX647922,CR591022,CR591474,CR593982,CR599824,CR599834,CR601351,CR601527,CR605284,CR610358,CR610534,CR611151,CR611325,CR614836,CR616857,CR618100,CR621814,NM_030579,CR622662,CR623816,CR625442 NP_085056,EAW83275,EAW83276,BAA23735,BAF84265,AAH04373,AAH14431,CAI46070,O43169,Q5HYD9 Hs.461131 CYB5-M|CYPB5M|DKFZp686M0619|OMB5 cytochrome b5, outer mitochondrial membrane isoform protein-coding 1603917 CYB5D1 cytochrome b5 domain containing 1 14702039,12477932 124637 NM_144607,AC104581,CH471108,AK022811,AK057061,AK125598,AK289520,BC060779 NP_653208,EAW90119,EAW90120,EAW90121,EAW90122,BAB71357,BAF82209,AAH60779,Q6P9G0 Hs.27475 FLJ32499 protein-coding 1606739 CYB5D2 cytochrome b5 domain containing 2 16344560,12477932 124936 NM_144611,NR_023346,NR_023347,AC087292,CH471108,AA479992,AK172844,BC020263,BC051697,BX327481,CB112805,CR592653,CR596829,CR600228,CR621850,DA346215,EB386356,H57026 ABM82622,ABM85803,NP_653212,EAW90452,EAW90453,EAW90454,BAD18808,AAH20263,AAH51697,Q8WUJ1 Hs.513871 MGC32124 protein-coding 1345596 CYB5P1 cytochrome b-5 pseudogene 1 1840560 1529 GDB:125237 1349765 CYB5P2 cytochrome b-5 pseudogene 2 1712589 1530 GDB:134403 1352843 CYB5P3 cytochrome b-5 pseudogene 3 8262522,2775258 1531 NG_002437,AL110118,M25765 GDB:373585 Psgb-5-1 pseudo 1344592 CYB5P4 cytochrome b-5 pseudogene 4 8262522,2775258 1532 NG_001021,AL353132,M24781 GDB:373586 Psgb-5-2|bA189G24.1 pseudo 1347150 CYB5P5 cytochrome b-5 pseudogene 5 1533 GDB:373587 1314495 CYB5R1 cytochrome b5 reductase 1 16303743,12975309,12477932,10611283,9760250,9373149,8125298,16189514 51706 CR598161,CR598525,CR600634,CR603725,CR604208,CR610895,CR611810,CR614397,CR616863,CR617411,CR618130,CR619842,CR620511,CR622867,CR623377,CR625837,CR626578,CR626777,CR596793,CS072296,AF087912,AF091084,AF093822,AF125533,AF169481,AK074654,AK075304,AK123705,AK223416,NM_016243,AY359026,BC000034,BC018732,BC127945,CR594361,AC096632,CH471067,CQ783902 Q9UHQ9,CAF86916,CAI93434,AAP97209,AAC72953,AAP97218,AAF17227,AAF06147,BAC11115,BAD97136,AAQ89385,AAH18732,AAI27946,NP_057327,EAW91451,EAW91452,EAW91453,EAW91454 Hs.334832 B5R.1|NQO3A2|humb5R2 protein-coding 1602002 CYB5R2 cytochrome b5 reductase 2 10611283,15858218,12477932,8889548,16189514 51700 BG772396,BM968347,CB149369,NM_016229,AC104237,CH471064,AA814725,AB209000,AF169802,AI342011,AK290102,AL133582,AY665398,BC001346,BG723242 Q59GV9,Q6BCY4,NP_057313,EAW68648,EAW68649,EAW68650,EAW68651,BAD92237,AAF04811,BAF82791,CAB63726,AAT75296,AAH01346 Hs.414362 B5R.2 protein-coding 731731 CYB5R3 cytochrome b5 reductase 3 Two forms of NADH-cytochrome b5 reductase are known, a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The former exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains. The soluble form has only the catalytic domain. This gene encodes both forms of the enzyme which arise from tissue-specific alternative transcripts that differ in the first exon. Mutations in this gene cause methemoglobinemias. 1580863,734886,1599771,1300048 1400360,9207238,17620407,15944396,15921385,15813912,15622768,15502298,15489334,15488472,15461802,15297856,15039026,12884529,12477932,12393396,10874300,10807796,10591208,9886302,9695975,9639531,9266404,9136051,9048929,8978818,8427971,8221686,8119939,7718898,7668255,6389526,4403130,3700359,3268037,3035541,2498303,2479590,2123873,2107882,2019583,1898726,1707593,1352356,1324793,221468,16009131 734886,1599771 1727 NM_007326,AF061830,AF061831,AY341030,CH471138,M28705,M28706,M28707,M28708,M28709,M28710,M28711,M28712,M28713,Z93241,NM_000398,AF361370,AJ010116,AJ010117,AJ010118,AJ310899,AJ310900,AK124528,AY421733,AY421734,BC004821,BT009821,BX366240,CB118906,CR456435,CR590472,CR591561,CR591876,CR593330,CR594068,CR594248,CR594565,CR596321,CR596646,CR596939,CR597031,CR597830,CR598100,CR600429,CR600483,CR601021,CR601590,CR602125,CR603135,CR604771,CR604882,CR607358,CR607839,CR610106,CR610296,CR610489,CR612466,CR613363,CR613744,CR614570,CR614892,CR615126,CR616501,CR617674,CR617720,CR618034,CR618233,CR620124,CR621834,CR623803,CR626640,M16461,M16462,Y09501 NP_000389,NP_015565,AAF06818,AAF06819,AAP88936,EAW73268,EAW73269,EAW73270,EAW73271,EAW73272,EAW73273,AAA59900,CAB42843,AAL87744,CAA09006,CAA09007,CAA09008,CAC84523,CAC84524,BAC85875,AAR38507,AAR38508,AAH04821,AAP88823,CAG30321,AAA52306,AAA52307,CAA70696,P00387,Q6TGM4,Q6TGM5,Q6ZVI6,CAK54426,CAK54725 Hs.700572 GDB:119848 B5R|DIA1 diaphorase 1 protein-coding 733318 CYB5R4 cytochrome b5 reductase 4 NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5; MIM 250790) and CYB5 reductase (DIA1; MIM 250800).[supplied by OMIM] 1580863 10611283,16381901,16344560,15504981,15489336,15131110,12477932,11230166,11076863 51167 NM_016230,AL034347,AL139232,AF169803,AL832113,BC025380,BC029339,DA274558 NP_057314,CAI22325,CAI22326,CAI19904,CAI19905,AAF04812,AAH25380,Q0JUA0,Q7L1T6,CAL37911,ABM82993,ABM86186 Hs.5741 NCB5OR|RP4-676J13.1|dJ676J13.1 nadph cytochrome b5 oxidoreductase protein-coding 734174 CYBA cytochrome b-245, alpha polypeptide Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. 734861,1580275,1580276,1578443,1331525,1600791,1580863 16899095,12772776,12729892,12716910,12697486,12679469,12639216,12547880,12514663,12482831,12477932,12446192,12230880,12226552,12147803,12121978,12073015,12056906,12042318,11940577,11917128,11910303,11893732,11854221,11733522,11530961,11258927,11133215,11023926,10759707,10486263,16895900,16794479,16788250,16754784,16738684,16608528,16546843,16543247,16460309,16358232,16330681,16308493,16293794,16215641,16115038,16110781,16076760,16002772,15994299,15936011,15927447,15865106,15838728,15824103,15683718,15671602,15561711,15538122,15530459,15489334,15461271,15322091,15322037,15256399,15255799,15219943,15210651,15193812,15186954,15172469,15167446,15135268,15102859,15078863,14968555,14747204,14702039,14679084,14652666,14578247,9083043,8920944,8798532,12927691,7964505,7938008,3368442,3305576,2469497,2286377,1763037,1415254,16189514,18429753,18413200,18398337,18327409,18324526,18309110,18239158,18158642,18077487,18004884,17996248,17880563,17627182,17620958,17617024,17565201,17563559,17445342,17383305,17337886,17336700,17314996,17307262,17227953,17200123,17151330,17149600,17140397,17015440,16998253,16923427,16922713,2243141,16326715 734861,1580275,1580276,1578443,1331525,1600791 1535 NM_000101,NG_007291,AC116552,CH471184,M61106,M61107,M62817,M62818,AK097127,BC006465,BC011565,BC028224,BC033739,BT006861,BX109994,M21186 NP_000092,EAW66793,EAW66794,EAW66795,EAW66796,AAA52134,AAH06465,AAH11565,AAP35507,AAA90925,P13498,Q96F68,ABM84161,ABM87564 Hs.513803 GDB:125238 p22-PHOX cytochrome b558 alpha-subunit protein-coding 1350964 CYBASC3 cytochrome b, ascorbate dependent 3 16303743,14702039,12477932,9373149 220002 NM_153611,AP003108,CH471076,AK024953,AK025870,AK056751,AK075559,AK225754,AL833374,BC004391,BC014045,BC047710,CR600742,CR607104,CR614872 NP_705839,EAW73941,EAW73942,BAC11698,AAH04391,AAH14045,AAH47710,Q8NBI2 Hs.22546 MGC20446 protein-coding 1350492 CYBB cytochrome b-245, beta polypeptide (chronic granulomatous disease) Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. 1599691,1580863,1599682,1599677,1599680,1599681,1599685,1599690,1599683,1599664 7719350,15233623,18402299,18402298,18202172,18089853,17940286,17363703,17089090,17060362,17015440,16987004,16895900,16839887,16608528,16516412,16354686,16344560,16260066,16179592,15883163,15777347,15706079,15684431,15681849,15569826,15489334,15479231,15454837,15377283,15322037,15308575,15256399,15249506,15181570,15102091,14605447,12772776,12768347,12589359,12482831,12477932,12139950,11997083,11926990,11917128,11893732,11511930,11462241,11258927,10974555,10914676,10578014,9888386,9856476,9790760,9667376,9585602,9111587,9083071,9083043,8634708,8182143,8101486,7938008,7927345,7694872,3600769,3600768,2556453,2425263,2243141,1905983,1710153,16189514 1599691,1599682,1599677,1599680,1599681,1599685,1599690,1599683,1599664 1536 NM_000397,AB013904,AF469769,AL627245,CH471141,DQ314869,X05895,AK289753,BC032720,CR601230,CR622452,DA995835,S67289,X04011 NP_000388,BAA34183,AAL76082,EAW59453,ABC40728,CAA29327,BAF82442,AAH32720,AAB29151,CAA27635,P04839,ABM81804,ABM84958 Hs.292356 GDB:120513 CGD|GP91-1|GP91-PHOX|GP91PHOX|NOX2|p91-PHOX protein-coding 1313951 CYBRD1 cytochrome b reductase 1 This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. 18194661,18092813,17068337,16344560,15338274,12949720,12477932,11230685,11230166,9373149,8125298,14499595 79901 NM_024843,NM_001127383,AC007969,CH471058,DQ496101,AK026654,AK027115,AK128495,AK225459,AK291731,AL136693,AL834483,BC016900,BC065290,BP418883,CB266594,CB266845,CR601938,CX866825,DA211209,DB000953,DB235339 NP_079119,NP_001120855,AAY14730,EAX11210,ABF47090,BAB15661,BAC87466,BAF84420,CAB66628,AAH65290,Q53TN4,Q6ZR51 Hs.221941 DCYTB|FLJ23462|FRRS3 protein-coding 1315303 CYC1 cytochrome c-1 1580863,1300048 2536365,16699948,15544925,15489334,14966123,12788227,12750404,12750393,12477932,12096338,12095993,11790791,11181702,10453733,9373149,8188279,8125298,6262312,3036122,2999105,2844747,2836796,16511342 1537 NM_001916,AC104592,CH471162,DQ300360,J04444,AK026633,AK225796,BC001006,BC015616,BC020566,BC024650,BE336714,BT019798,CR541674,CR735564,M16597,X06994 NP_001907,EAW82160,ABB96244,AAA52135,AAH01006,AAH15616,AAH20566,AAH24650,AAV38601,CAG46475,AAA35730,CAA30052,P08574,Q8TBT6,ABM82412,ABM85597 Hs.289271 GDB:119827 UQCR4 protein-coding 1604618 CYCS cytochrome c, somatic This gene encodes cytochrome c, a component of the electron transport chain in mitochondria. The heme group of cytochrome c accepts electrons from the b-c1 complex and transfers electrons to the cytochrome oxidase complex. Cytochrome c is also involved in initiation of apoptosis. Upon release of cytochrome c to the cytoplasm, the protein binds apoptotic protease activating factor which activates the apoptotic initiator procaspase 9. Many cytochrome c pseudogenes exist, scattered throughout the human genome. 8689682,9515723,9267021,8206937,10383829,9390557,9922454,11256614,18345000,16934433,16713569,16381901,15489336,15489334,14702039,14063298,12853948,12690205,12555167,12477932,12416732,12243190,13933734,12909341,12147322,12101247,11839755,11790791,11784858,11737208,11230166,11076863,10980706,10818086,10801801,10683230,10625700,10622714,10506125,10082581,9847074,9760250,9615439,9192670,9027314,8663341,6270113,6262312,6251869,6088481,6087732,4403130,2849112,2844747,2580882,2153405,1309738,199233,17158886,15033690,11462036,11193032,12019321,11739707,16520893,12404116,15698476,15691386,17353931,16189514 54205 AC004129,AC007487,CH236948,CH471073,M22877,AK056360,AL713681,BC005299,BC008475,BC008477,BC009578,BC009579,BC009582,BC009587,BC009602,BC009607,BC014359,BC014361,BC015130,BC016006,BC021994,BC022330,NM_018947,BC067222,BC068464,BC070156,BC070346,BC071761,BF446772,BG677560,BT006946,BU597562,CR542175,CR615470,CR616500,CR618678,CR621998,CR622353,BC024216,CR624739,D00265 NP_061820,AAQ96844,EAL24239,EAW93822,EAW93823,EAW93824,AAA35732,CAD28485,AAH05299,AAH08475,AAH08477,AAH09578,AAH09579,AAH09582,AAH09587,AAH09602,AAH09607,AAH14359,AAH14361,AAH15130,AAH16006,AAH21994,AAH22330,AAH67222,AAH68464,AAH70156,AAH70346,AAH71761,AAP35592,CAG46972,BAA00187,P99999,Q0JT63,Q6LER6,CAL38091,CAL38301,ABM83964,ABM87278 Hs.437060,Hs.617193 CYC|HCS protein-coding 1351407 CYCSL1 cytochrome c, somatic-like 1 12909341,2849112 157317 NR_001561,NG_007352,AF533176,AL354740,M22900 HCP15|HS11|bA513I15.3 pseudo 1349144 CYCSP1 cytochrome c, somatic pseudogene 1 12909341,2849112 122950 NG_002985,AC008050,AF533197,M22886 HC5|HCP36 pseudo 1606901 CYCSP10 cytochrome c, somatic pseudogene 10 12909341 360166 NG_002961,AC022007,AF533171 HCP10 pseudo 1606900 CYCSP11 cytochrome c, somatic pseudogene 11 12909341 360167 NG_007311,NG_002962,AC034193,AF533172 HCP11 pseudo 1606899 CYCSP12 cytochrome c, somatic pseudogene 12 12909341 360168 NG_002963,AC090958,AF533173,AF533174 CYCSP13|HCP12|HCP13 pseudo 1606898 CYCSP13 cytochrome c, somatic pseudogene 13 12909341 360169 NG_002964,AF533174 HCP13 pseudo 1606897 CYCSP14 cytochrome c, somatic pseudogene 14 12909341 360170 NG_002965,AC097481,AF533175 HCP14 pseudo 1606896 CYCSP16 cytochrome c, somatic pseudogene 16 12909341 360171 NG_002966,AF533177,AL079342 HCP16 pseudo 1606895 CYCSP17 cytochrome c, somatic pseudogene 17 12909341 360172 NG_002967,AF533178,AL731777 HCP17 pseudo 1606894 CYCSP18 cytochrome c, somatic pseudogene 18 12909341 360173 NG_002968,AC002540,AF533179,CH236949 HCP18 pseudo 1606893 CYCSP19 cytochrome c, somatic pseudogene 19 12909341 360174 NG_002969,AC074085,AF533180,CH236947 HCP19 pseudo 1351760 CYCSP2 cytochrome c, somatic pseudogene 2 12909341 360183 NG_002986,AC021753,AF533198 HCP37 pseudo 1604945 CYCSP20 cytochrome c, somatic pseudogene 20 12909341 349158 NG_002970,AC011005,AF533181,CH236950 HCP20 pseudo 1606892 CYCSP22 cytochrome c, somatic pseudogene 22 12909341 360175 NG_002972,AC087173,AF533183 HCP22 pseudo 1606891 CYCSP23 cytochrome c, somatic pseudogene 23 12909341 360176 NG_002973,AC099818,AF533184 HCP23 pseudo 1606890 CYCSP24 cytochrome c, somatic pseudogene 24 12909341,2849112 360177 NG_002974,AF533185,AF533192,AL360020,M22880 HC3|HCP24|HCP31 pseudo 1604546 CYCSP25 cytochrome c, somatic pseudogene 25 12909341,2849112 120528 NG_002975,AF533186,AL162614,M22892 HC10|HCP25 pseudo 1606889 CYCSP26 cytochrome c, somatic pseudogene 26 12909341 360178 NG_002976,AF533187,AP003484 HCP26 pseudo 1605537 CYCSP27 cytochrome c, somatic pseudogene 27 12909341 341148 NG_002977,AF533188,AP001372 HCP27 pseudo 1606888 CYCSP28 cytochrome c, somatic pseudogene 28 12909341 360179 NG_002978,AF533189,AP002500 HCP28 pseudo 1606887 CYCSP29 cytochrome c, somatic pseudogene 29 12909341 360180 NG_002979,AF533190,AP003387 HCP29 pseudo 1352181 CYCSP3 cytochrome c, somatic pseudogene 3 12909341,2849112 349198 NG_002971,AF279873,AF533182,M22893 HCP21|HS7 pseudo 1606745 CYCSP30 cytochrome c, somatic pseudogene 30 12909341 121026 NG_002980,AC079598,AF533191 HCP30 pseudo 1606886 CYCSP32 cytochrome c, somatic pseudogene 32 12909341 360181 NG_002981,AF533193,AL590076 HCP32 pseudo 1606675 CYCSP33 cytochrome c, somatic pseudogene 33 12909341 221180 NG_002982,AF533194,AL359763 HCP33 pseudo 1606885 CYCSP34 cytochrome c, somatic pseudogene 34 12909341 360182 NG_002983,AF533195,AL590064 HCP34 pseudo 1604248 CYCSP35 cytochrome c, somatic pseudogene 35 12909341,2849112 121916 NG_002984,AF533196,AL356423,M22891 HC8|HCP35 pseudo 1606884 CYCSP38 cytochrome c, somatic pseudogene 38 12909341,2849112 360184 NG_002987,AC107241,AF533199,M22879 HC2|HCP38 pseudo 1605807 CYCSP39 cytochrome c, somatic pseudogene 39 12909341,2849112 342358 NG_002988,AC130451,AF533200,M22878 HC1|HCP39 pseudo 1606906 CYCSP4 cytochrome c, somatic pseudogene 4 12909341 360157 NG_002955,AF533165,AL589762 HCP4 pseudo 1606883 CYCSP40 cytochrome c, somatic pseudogene 40 12909341,2849112 360185 NG_002989,AC068594,AF533201,M22890 HC7|HCP40 pseudo 1345481 CYCSP41 cytochrome c, somatic pseudogene 41 12909341,10830953 360186 NG_002990,AF533202,AL078471 GDB:10796304 CYC1LP4|HCP41 cytochrome c-1-like pseudogene 4 pseudo 1348868 CYCSP42 cytochrome c, somatic pseudogene 42 12909341,10830953 343727 AJ009632,NG_002991,AF533203 GDB:10796306 CYC1LP5|HCP42 cytochrome c-1-like pseudogene 5 pseudo 1606882 CYCSP43 cytochrome c, somatic pseudogene 43 12909341 360187 NG_002992,AF533204,AL139110 HCP43 pseudo 1604468 CYCSP44 cytochrome c, somatic pseudogene 44 12909341 349391 NG_002993,AF533205,AL139112 HCP44 pseudo 1605528 CYCSP45 cytochrome c, somatic pseudogene 45 12909341 352852 NG_002994,AF533206 HCP45 pseudo 1605542 CYCSP46 cytochrome c, somatic pseudogene 46 12909341,12815422,9847074 286550 NG_002926,AC006989,AF533207,AF533208 HCP46|HCP47 pseudo 1606881 CYCSP48 cytochrome c, somatic pseudogene 48 12909341,12815422 360188 NG_002995,AC013734,AF533209 HCP48 pseudo 1606880 CYCSP49 cytochrome c, somatic pseudogene 49 12909341,12815422 360189 NG_002999,AF533210 HCP49 pseudo 1606905 CYCSP5 cytochrome c, somatic pseudogene 5 12909341,12815422 360158 NG_002956,AC099757,AF533166 HCP5 pseudo 1603851 CYCSP51 cytochrome c, somatic pseudogene 51 12909341 343045 NG_002953,AF533162,AL355860 HCP1 pseudo 1603339 CYCSP52 cytochrome c, somatic pseudogene 52 12909341,2849112 360155 NR_001560,AF533163,AL157713,M22889 HC6|HCP2 pseudo 1606907 CYCSP53 cytochrome c, somatic pseudogene 53 12909341 360156 NG_002954,AF533164,AL049762 HCP3 pseudo 1606904 CYCSP6 cytochrome c, somatic pseudogene 6 12909341 360159 NG_002957,AC064872,AF533167 HCP6 pseudo 1604219 CYCSP7 cytochrome c, somatic pseudogene 7 12909341 164837 NG_002958,AC012493,AF533168 HCP7 pseudo 1606903 CYCSP8 cytochrome c, somatic pseudogene 8 12909341 360160 NG_002959,AC140481,AF533169 HCP8 pseudo 1321175 CYFIP1 cytoplasmic FMR1 interacting protein 1 16260607,16982806,15489334,15048123,14702039,14676191,14508708,12477932,11438699,9463375,9417078,7584044,16189514 23191 NM_014608,NM_001033028,AC011767,AC090764,CH471258,AK024816,AK125784,AK125936,AK127094,AK291604,AL357618,AY763577,AY763578,AY763579,AY763580,BC001306,BC005097,BC063869,BF979687,D38549 NP_055423,NP_001028200,EAW65555,BAC86825,BAF84293,AAW51476,AAW51477,AAW51478,AAW51479,AAH01306,AAH05097,BAA07552,Q7L576,ABM87438,ABW03890 Hs.26704 GDB:9784535 FLJ45151|P140SRA-1|SHYC|SRA1 protein-coding 1312845 CYFIP2 cytoplasmic FMR1 interacting protein 2 8125298,12837692,16189514,15048733,10449408,11438699,17245118,16381901,15731336,15489336,15489334,15324660,15048123,14676191,14506234,12477932,12181570,11230166,11076863,10574461,9463375,9373149,8605018 26999 NM_001037333,NM_001037332,NM_014376,AC008676,AC009185,AC016571,CH471062,AB032994,AF132197,AF160973,AK172724,AK223604,AL136549,AL161999,AL559919,BC011762,BC021008,BC026892,BC066933,BG257432,CR596909,CR607036,L47738 NP_001032410,NP_001032409,NP_055191,EAW61603,EAW61604,EAW61605,EAW61606,BAA86482,AAG35543,AAD45723,BAD97324,CAB66484,CAB82329,AAH11762,AAA79022,Q0JT65,Q0JTC6,Q14650,Q96F07,Q9H360,Q9NSN1,CAL38237,CAL38299,ABM84454,ABM87614 Hs.519702 GDB:11505854 PIR121 protein-coding 1345183 CYGB cytoglobin Cytoglobin is a ubiquitously expressed hexacoordinate hemoglobin that may facilitate diffusion of oxygen through tissues, scavenge nitric oxide or other reactive oxygen species, or serve a protective function during oxidative stress (Trent and Hargrove, 2002 [PubMed 11893755]).[supplied by OMIM] 1580863 11919282,11320098,17936249,16797742,16699195,16698880,16510494,16449996,16201751,15819897,15489334,15299006,15165856,15095869,15052627,14702039,14660570,14530264,12796507,12718557,12477932,12359339,11893755 114757 NM_134268,AC015802,CH471099,AB057769,AJ315162,AK098057,BC029798,BQ881744,CR596351,CR604289,CR615530,CR626663 NP_599030,EAW89405,EAW89406,BAB87840,CAC86186,BAC05223,AAH29798,Q541Y7,Q8WWM9 Hs.95120 GDB:11505856 HGB|STAP protein-coding 1344193 CYHR1 cysteine/histidine-rich 1 14702039,12477932,10745073,9455484 50626 NM_032687,AC084125,CH471162,AB007965,AK094514,AK160381,BC004544,BC005073,BC056412,BC065484 NP_116076,EAW82088,EAW82089,EAW82090,EAW82091,BAD18724,AAH04544,AAH05073,AAH65484,Q6ZMK1 Hs.459379,Hs.598583 GDB:11505858 CHRP|KIAA0496|MGC13010 protein-coding 1348149 CYLC1 cylicin, basic protein of sperm head cytoskeleton 1 1580863 8354692,15772651,15489334,12509440,12477932,7737358 1538 NM_021118,AL354653,AL627233,BC021669,BC038787,BC058019,BC070355,BC126461,Z22780 NP_066941,CAI40037,AAH38787,AAH58019,AAH70355,AAI26462,CAA80457,P35663,Q3ZCV3,Q6NS94,Q6PEK4 Hs.444230,Hs.709015 GDB:226484 CYCL1 protein-coding 1344761 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. 1580863 7737358,15489334,15164053,12747772,12477932 1539 NM_001340,AL359679,AL449304,CH471105,BC058038,BC114547,BX097520,Z46788 NP_001331,EAW58966,EAW58967,EAW58968,AAH58038,AAI14548,CAA86752,Q14093,Q6PEJ5 Hs.3232 GDB:9837210 MGC129591 protein-coding 1319183 CYLD cylindromatosis (turban tumor syndrome) This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1601033 10835629,18313383,18245814,18222923,17875891,17851586,17662085,17609426,17608805,17606441,17495026,17081983,16774947,16713561,16627981,16501569,16500080,16350444,16344560,16230348,16135788,15870263,15496400,15489334,15341735,15289313,15226292,15086550,14702039,14676304,14632188,12917691,12917690,12917689,12477932,12168954,11042152,10480375,10048485,9373149,8649842,8125298,7493027 1601033 1540 NM_015247,NM_001042355,NM_001042412,AC007728,CH471092,CQ834224,AF161542,AJ250014,AK000187,AK024212,AK024348,AK056226,AK225202,AK292975,AL050166,BC012342,BI458962,BX642061,DA157717,DA785459,DA940312,DB119480 NP_056062,NP_001035814,NP_001035877,EAW82768,EAW82769,EAW82770,EAW82771,EAW82772,EAW82773,CAH05327,AAF29029,CAB93533,BAF85664,AAH12342,Q9NQC7 Hs.578973 GDB:701216 CDMT|CYLD1|CYLDI|EAC|FLJ20180|FLJ31664|FLJ78684|HSPC057|KIAA0849|USPL2 protein-coding 1347835 CYMD cystoid macular dystrophy 8004098 1541 GDB:366594 1344324 CYMP chymosin pseudogene 16344560,2210384,2071156,1812698 643160 NR_003599,AL358215 GDB:127813 pseudo 735631 CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. 1580863,1599699,1599701,1599693,1599696,1599698 3024157,9147642,18483327,18437511,18307388,18182448,18004979,17615053,17594537,17575134,17507624,17178901,17110639,17065579,16798289,16764871,16409859,16391898,16344560,16195240,16172228,16116976,16103457,15927889,15793791,15613430,15489334,15471945,15231748,15159300,15126571,15054879,14702039,14644808,12530676,12530663,12517592,12477932,12385014,12242026,12161514,12145340,12137805,12101186,11997174,11864972,11701663,11535251,11502818,11238527,11137199,11062177,11008920,10856721,10644752,10416690,10411633,10391209,9685215,9498238,9373149,9029710,8372604,8125298,3038854,2419119,1917982,1863359,1849407,1429635,16189514 1599699,1599701,1599693,1599696,1599698 1583 NM_000781,NM_001099773,AC090826,CH471136,DQ358147,X05367,X14257,AI149078,AK056794,AK225715,AK292300,AK292301,BC032329,BX398579,CR591351,CR594184,CR596946,CR602305,CR602621,CR608581,CR612104,CR614174,CR616636,CR625769,CR626277,DA010417,M14565,M28253 NP_000772,NP_001093243,EAW99341,EAW99342,ABC86898,CAA28965,CAA32471,BAF84989,BAF84990,AAH32329,AAA52162,AAA36404,P05108,Q2HZF3,ABM82504,ABM85697 Hs.303980 CYP11A|P450SCC cytochrome p450, subfamily 11a protein-coding 70835 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. 1300048,1580863,1600799,69709,734864 2592361,17980006,17556864,17296872,17121536,17075029,16984984,16396990,16110193,16030166,15755848,15751602,15699546,15522937,15507509,15324322,15062555,14702039,14682466,12477932,11932209,11903322,11675945,11549691,11549669,11095433,10599751,10411633,10391210,10391209,9302260,8372604,7903314,3499608,2401360,2022736,1741400,1518866,1430088,1303253 1600799,69709,734864 1584 NM_000497,AC083841,AJ431380,AJ431381,AJ431382,CH471162,D10169,D16153,D16155,EU332839,M32863,M32879,AF478474,AK094090,BC096285,BC096286,BC096287,NM_001026213,BX647738,M24667,X55764 NP_001021384,NP_000488,CAD24088,CAD24089,CAD24090,EAW82293,EAW82294,EAW82295,BAA01039,BAB71992,BAA03717,ABY87528,AAA52149,AAL84813,BAC04283,AAH96285,AAH96286,AAH96287,AAA52148,CAA39290,P15538,Q4VAQ8,Q4VAQ9,Q4VAR0,Q8N9P8,Q8TDD0,Q8TE38,Q8TE39,Q8TE40 Hs.184927 GDB:120603 CPN1|CYP11B|DKFZp686B05283|FHI|FLJ36771|P450C11 protein-coding 736494 CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. 1576426,1576427,1576428,1576429,727991,1300048,1580863,1600824 15569322,15545843,15532370,15522937,15507509,15505931,15479186,15378162,15361760,15272911,15238568,15230231,15223724,15135254,15102677,15097233,15062555,15055249,14736447,14704730,14643573,14530292,14508191,12832734,12817181,12788848,12788845,12783697,12746403,12627873,12624609,12611423,1741400,1518866,18446309,18413308,18260994,18260840,18202594,18192839,17987391,17984617,17980006,17851694,17762647,17698557,17664852,17633457,17631084,17546276,17531119,17519002,17407071,17383306,17334644,17334527,17318792,17296872,17273158,17261471,17190732,17143166,17075029,17003099,16984984,16979018,16893516,16796847,16780672,16767667,16765146,16759311,16714246,16672053,16638864,16615274,16580565,16485730,16468060,16396990,16303227,16208140,16207322,16126185,16110193,16080805,16080804,16078594,15914614,15894891,15894890,15882548,15824464,15699546,15662219,15643128,15614025,15611122,15600184,15583997,15573760,12544508,12544440,12477932,12446468,12446192,12444540,12391843,12376254,12213905,12205735,12195120,12193581,12172317,12161536,12137808,12133420,12107246,12065207,12031704,12022239,11967817,11932209,11923700,11910301,11903322,11856349,11841224,11728946,11728005,11725161,11711524,11711521,11696688,11696658,11587161,11518842,11447495,11422735,11422106,11325068,11288810,11245725,11238478,11116113,11076863,10902803,10411633,10391210,10391209,10371693,9931115,9814506,9625333,9506770,9360501,9177280,8954040,8439335,8372604,7792802,3872685,2592361,2256920,1775135,1594605,1346492,1303253 1576426,1576427,1576428,1576429,727991,1600824 1585 NM_000498,AC073385,CH471162,D10170,D13752,EU326306,M32881,S77397,S77409,X54741 NP_000489,EAW82292,BAA01040,BAA02899,ACA05912,AAA35741,AAB34642,AAB34643,CAA38539,P19099,Q14098,Q16315,Q16316,AAI11459 Hs.632054 GDB:120514 ALDOS|CPN2|CYP11B|CYP11BL|P-450C18|P450C18|P450aldo cytochrome p450, subfamily 11b, polypeptide 2 protein-coding 1350540 CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. 1580863,1625350 17986287,17961073,17895316,17875358,17826473,17786540,17785571,17765230,17760252,17704407,17669147,17664281,17615053,17606708,17589376,17588204,17507624,17484509,17386955,17359589,17328668,17307805,18006912,18000308,17235448,17218734,17167982,17119038,17110639,17108148,17077994,16977255,16971197,16969494,16909599,16896040,16890174,2808364,10406467,1347802,9326943,18483327,18437511,18415690,18411914,18318428,18305346,18299473,18281250,18184656,18172694,18163429,16887917,16885156,16875543,16859836,16850246,16783967,16782804,16739881,16730930,16720291,16716118,16707883,16702327,16638864,16616104,16608396,16603433,16595705,16595228,16527884,16519145,16515644,16424004,16411751,16381022,16354159,16344560,16319265,16306078,16280037,16260521,16244490,16232327,16214922,16202920,6976525,3500022,3488328,3274893,3025870,2843762,2786493,2466376,2335573,1964490,1740503,1714904,1665206,1621662,1577471,1515452,1478654,16045239,15987458,15999490,15987450,15953542,15941966,15927351,15916684,15886251,15878919,15865082,15824149,15823822,15799583,15774541,15761247,15749482,15711606,15706422,15687493,15686129,15663233,15654505,15609124,15604994,15598676,15591802,15555906,15539439,15538743,15536258,15489334,15482786,15477877,15466495,15382051,15372520,15364798,15341023,15241822,15235815,15199113,15195127,15164054,15129369,15072828,14995917,14985252,14744739,14715870,14714492,14702039,14693733,14684846,14671162,14665706,14644808,14634838,14575568,14561815,14552333,14552332,14512432,14504283,12971967,12954495,12949806,12719950,12718576,12692107,12652520,12645864,12644832,12631398,12631293,12602902,12584742,12582021,12574216,12530676,12530662,12530647,12530262,12517592,12506119,12477932,12466376,12464252,12446594,12444089,12385014,12370109,12368392,12164325,12036914,12036913,11956159,11925378,11911969,11897684,11895872,11888844,11880540,11867265,11847524,11839369,11836339,11834432,11749050,11668516,11571725,11549685,11535545,11470993,11440959,11379008,11358812,11341336,11303586,11248649,11232039,11221867,11212283,11145739,11142420,11094312,11059764,11036113,10720067,9888582,9601054,9435441,9360545,9177409,8855840,8675607,8550762,8396144,8345056,8245018,8027220,7629254 1625350 1586 NM_000102,AL358790,CH471066,DQ530598,EU332845,M19489,M31153,M63871,AI492406,AK094106,AK289898,BC032843,BC062997,BC063388,BT020000,DA013587,DA016804,M14564 NP_000093,CAI52498,EAW49672,ABF50972,ABY87534,AAA36405,AAA52140,AAA59984,BAF82587,AAH62997,AAH63388,AAV38803,AAA52151,P05093,Q1HB44 Hs.438016 CPT7|CYP17|P450C17|S17AH protein-coding 1346128 CYP17A1OS cytochrome P450, family 17, subfamily A, polypeptide 1 opposite strand 414269 AL358790 CAI52497,Q5F2G5 bA753C18.3 protein-coding 1606587 CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis, three successive hydroxylations of the A ring of androgens. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. The gene expresses two transcript variants. 1625350 2848247,1371509,15583024,11256614,18483761,18445666,18437511,18426832,18305346,18299793,18281655,18274619,18245543,18201819,18199708,18182446,18163429,18159088,18157729,18086758,18083712,18048499,17989068,17989043,17979523,17975727,17962916,17893373,17827443,17766065,17704407,17687621,17682677,17681675,17216495,17187946,17176215,17167982,17158756,17119036,17118999,17066438,17065579,17004113,16997132,16977255,16964243,16949391,16949385,16930994,16896040,16895991,16894362,16882736,16875543,16850246,16798289,16793950,16782804,16767510,16741831,16739881,16733710,16730930,16723309,16691199,16684355,16648498,16641167,16634644,16621515,16608396,16604491,16595205,16566930,16556483,16541304,16498364,16498363,16498361,16498360,16473000,16467490,16426763,16424004,16418790,16406421,16402077,16395678,16392624,16381901,16344016,16322405,16306085,16303757,16302261,16287071,16269961,16260521,16251760,16251630,16244490,16232327,16213843,16202920,16199862,16146740,16128984,16103457,16086586,16045239,16039845,16024248,16020944,16019206,15955695,15862962,15862961,15862960,15802318,15800924,15794932,15788666,15774541,15748828,15695318,15677755,15668497,15640252,17678915,17661084,17657731,17646720,17615053,17595315,17589376,17588204,17584767,17574328,17562079,17507624,17507620,17482958,17415442,17405842,17404019,17400043,17391072,17372263,17359589,17336977,17331471,17325027,17219197,15582747,15489336,15449726,15364411,15358790,15330195,15298966,15241822,15229337,15207764,15199113,15183689,15181061,15177662,15132727,15126575,15083381,15083380,15083377,15083376,15079018,15074077,15072828,15072827,15046111,14990865,14981949,14973387,14747179,14744739,14715870,14714492,14634838,14631363,14602139,14593077,14580722,14517714,14508827,15613678,12917334,12914527,12864794,12846271,12843146,12839940,12788892,12768436,12759877,12736278,12734209,12720534,12705475,12690088,12639945,12620480,12618873,12606587,12602902,12592380,12517592,12489562,12477932,12466340,12462077,12462076,12451990,12428207,12385014,12370109,12351690,12213901,12204674,12164325,12161505,12161013,12160997,12154211,12053085,12036913,11997208,11935306,11927588,11925378,11904449,11903314,11897504,11850235,11850233,11850230,11850225,11850224,11850222,11850221,11850220,11850219,11850210,11850209,11850208,11850206,11850205,11850203,11826265,11756225,11595700,11571725,11469726,11344237,11232039,11216915,11181459,11140838,11076863,10837748,10566648,9696881,9211678,9177373,8530621,8477708,8265607,8117272,8090165,7690033,3964273,3653507,3390233,12944421,3018730,2973313,2808431,2691883,2541021,2171939,2040633,1825497,1724289,16189514,15319333,15688015 1625350 1588 NM_000103,NM_031226,AC012169,AC020891,AY957953,CH471082,D14473,M30804,S85356,AK291778,BC020767,BC022896,BC035714,BC035959,BC056258,BC107785,CR591944,CR594831,CR610414,CR617751,CR619515,CR620604,CR622060,CR622116,DQ118405,J04127,M18856,M22246,M28420,X13589,Y07508 NP_000094,NP_112503,AAX44046,EAW77413,EAW77414,EAW77415,EAW77416,AAA35728,AAB21520,BAF84467,AAH20767,AAH22896,AAH35714,AAH35959,AAH56258,AAI07786,AAZ23558,AAA52132,AAA35556,AAA35557,AAA52141,CAA31929,CAA68807,P11511,Q05CU4,Q0JTV0,Q0JVP9,Q16449,Q3B764,Q45RG7,Q7Z471,Q8IYG4,Q8IYJ7,Q8TCA4,CAL37411,CAL38062 Hs.654384 ARO|ARO1|AROMATASE|CPV1|CYAR|CYP19|MGC104309|P-450AROM 2289561 BW440_H protein-coding 730870 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. 1581251,1581252,727674,1300048,1580863 16788090,16771603,16767678,16763966,16721740,16697254,16676594,16638864,16625286,16620591,16614120,16614107,16608396,16599372,16598069,16580705,16527884,16505155,16493615,16492926,16488179,16484137,16481407,16426572,16471212,16424825,16466991,16416283,16414014,16407087,16403567,16402549,16402077,16393248,16360200,16357600,16357593,16337337,16319265,16318816,16284498,16284375,16273625,16270381,16260521,16254684,16235998,16228113,16227674,16202920,16153604,16142442,16130011,1691986,18463401,18449058,18447907,18437510,18415801,18415690,18414197,18409147,18409146,18389617,18351133,18339256,18320229,18318428,18317771,18304461,18287869,18287863,18285692,18268125,18261353,18247309,18241825,18224491,18203634,18203021,18200441,18159984,18090121,18082227,18078203,18074679,18070799,18061941,17996038,17982751,17981384,17980933,17980001,17959138,17919675,17919073,17908297,17900751,17896209,17873299,17852022,17823232,17786624,17728147,17717632,17711714,17706398,17695473,17651397,17646057,17642299,17640999,17630984,17623765,17620151,17611777,17610937,17603290,17590289,17589376,17588204,17577786,17566695,17549424,17548691,17531965,17526865,17512776,17512722,17507624,17498780,17496311,17479406,17477782,17461521,17449539,17429315,17429172,17428572,17427032,17412371,17408703,17403528,17372252,17372243,17372239,17367411,17363580,17361553,17316563,17311112,17307803,17307802,17220347,17192049,17191090,17174438,17171211,17167268,17164366,17160896,17160265,17158763,17119063,17118447,17113562,17083362,17081983,17078101,17063266,17053541,17035385,17022435,16998606,16985250,16985033,16985026,16977255,16971197,16956909,16949388,16947004,16926176,16914185,16882880,16864595,16837240,16835796,16834659,16823842,16807674,16803538,12594823,12590982,12579334,12574216,12569554,12548461,12527337,12496044,12490585,12484238,12477932,12468438,12464257,12435115,12419832,12397416,12378791,12365037,12354067,12351530,12297440,12269988,12237110,12210751,12210502,12189551,12183419,12175533,12171760,12170467,12163326,12147246,12144816,12139735,12110344,12100112,12071517,12063626,12036913,12034316,12030651,12018173,11996959,11967624,11955671,14665706,14656945,14646291,14639127,14634838,14611903,14602525,14602139,14582397,14560034,14534704,14510941,12949934,12934333,12925969,12919721,12903034,12883749,12880680,12879168,12854128,12846365,12845676,12827651,12824892,12777964,12772461,12771031,12767526,12767509,12760253,12748560,12746631,12738724,12732844,12729704,12718576,12713578,12690010,12680328,12670526,12646505,12631667,12620480,12602902,16792888,16103451,15653213,15648054,15647817,15646021,15643613,15642161,15640066,15618738,15605089,15596250,15591802,15583370,15579657,15552037,15547760,15528152,15526353,15521013,15496536,15491310,15489334,15478298,15469410,15459023,15386428,15382273,15382051,15381379,15376230,15375499,15363546,15355699,15352038,15341023,15333597,15333250,15327835,15299091,15298960,15298956,15279831,15241822,15217514,15215328,15206494,15195126,15194533,15185560,15184245,15180167,15177667,15176217,15152552,15136237,15128046,15127559,15127181,15124938,15111988,15093273,15088300,15069692,15064998,15061915,15059326,15052670,15037607,15013696,14991750,14758730,14734460,14724908,14719475,14695173,14693745,14687717,14675315,16084889,16051642,16043197,16037119,16012082,16009381,15991278,15986113,15981231,15953982,15941966,15938845,15931768,15928955,15920291,15914277,15914211,15870154,15867368,15861041,15856430,15849806,15801491,15774926,15774541,15769360,15765281,15764294,15756908,15734958,15734083,15731166,15725614,15712341,16099114,11564581,11551408,11535253,11525595,11520401,11511301,11507974,11503278,11501853,11500195,11488937,11487538,11485833,11484167,11471167,11470996,11470992,11470760,11459424,11436564,11434510,11422615,11418090,11410321,11408954,11408349,11406608,11406420,11396202,11393538,11389067,11330960,11325850,11295847,11295132,11291049,11279306,11275366,11259393,11246217,11236859,11207026,11191882,11172643,11162685,11159735,11124296,11052546,11045797,11037803,11037802,10739168,10612842,10493257,9890157,9500998,9373149,8895751,15671210,11952781,11934439,11895912,11872636,11860900,11860825,11859435,11854392,11833070,11798822,11793160,11792676,11779261,11752233,11751440,11719088,11698341,11689007,11675474,11675150,11641039,8548778,8442765,8313840,8125298,6102994,4000952,3838385,3714481,3019683,3000715,2989797,1761516,1722803,16189514,8095225,15319333,15039299 1581251,1581252,727674 1543 AY310359,AY871801,BC023019,K03191,M12079,AC091230,AF253322,CH471136,D10855,EF094025,X02612,X04300,AF040259,AK223108,AK223113,AM233517,NM_000499,AM233518,AM233519,AM233520,AM236046,AM236047 AAQ76692,AAX62803,AAH23019,AAA52139,AAA52152,P04798,Q0VHD5,Q53G18,Q53G23,Q5J9B1,ABM82441,ABM85632,NP_000490,AAK25727,EAW99314,EAW99315,ABK41999,CAA26458,CAA27843,AAD10199,BAD96828,BAD96833,CAJ80720,CAJ80721,CAJ80722,CAJ80723,CAJ84703,CAJ84704 Hs.72912 GDB:120604 AHH|AHRR|CP11|CYP1|P1-450|P450-C|P450DX protein-coding 735711 CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. 1358545,727649,1300048,1580863 2813353,8553685,18490497,18398030,18389617,18318428,18268115,18231117,18223460,18187423,18180754,18159984,18077912,18075470,18052847,17900275,17852022,17823234,17823232,17695473,17688403,17635176,17627011,17616786,17615053,17611010,17603900,17603224,17564586,17509724,17507624,17507615,17503978,17498780,17477782,17429315,17372239,17370067,17363580,17345072,17295924,17259654,17191090,17178267,17164366,17065585,16985250,16985026,16969362,16933202,16882880,16864595,16800822,16782969,16775389,16772608,16740387,16636061,16609368,16538176,16538170,16522833,16505155,16495781,16471212,16426572,16406813,16402549,16402077,16385402,16307269,16204462,16188490,17418993,16172230,16157215,16153396,16130011,16103451,16048566,16006997,15996939,15987714,15949157,15941966,15901993,15890241,15849225,15774926,15770072,15763632,15734958,15643613,15564895,15519301,15505641,15489334,15469410,15466009,15387446,15382051,15363478,15349722,15299091,15241822,15128046,15110095,14976127,14723376,14714565,14695651,14648207,14640293,14563787,12943470,12925300,12920202,12900870,12851801,12790158,12732846,12692107,12663508,12630986,12618594,12569554,12566081,12534642,12484238,12477932,12445035,12445029,12419832,12181774,12147246,12067576,11943609,11817502,11791895,11782366,11763009,11749050,11507974,11501059,11496364,11470995,11393588,11275366,11207026,11186132,11153915,10791558,10493258,10463577,9890157,9884316,9797707,9598815,8694864,8573198,8287062,3755823,3681487,3517618,3462722,3000715,2575218,9398194,8095225,15319333,15039299 1358545,727649 1544 NM_000761,AC091230,AF253322,CH471136,DQ022432,L00389,M31664,M31667,AF182274,BC067424,BC067425,BC067426,BC067427,BC067428,BC067429,M12078,M55053,Z00036 NP_000752,AAK25728,EAW99313,AAY26399,AAA35738,AAA52163,AAF13599,AAH67424,AAH67425,AAH67426,AAH67427,AAH67428,AAH67429,AAA52154,AAA52146,CAA77335,P05177,Q6NWU3 Hs.1361 GDB:118780 CP12|P3-450|P450(PA) cytochrome p450, 1a2 protein-coding 736765 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. 1599716,728267,1300048,1580863 9097971,17353931,18483560,18425393,18415014,18385784,18347981,18318428,18268125,18258609,18187806,18070520,18067928,18055790,17980933,17925548,17922187,17919675,17914928,17893647,17718864,17704407,17687619,17642299,17627011,17615053,17603900,17591938,17589376,17588204,17575219,17563717,17562158,17548691,17507624,17507616,17498780,17496311,17458695,17449559,17449539,14729846,14656940,14634838,14562027,14520706,14507861,12873984,12844487,12837283,12807732,12770747,12718576,12692107,12618873,12602902,12598442,12567107,12525557,12520071,12477932,12419832,12415427,12385014,12372064,12200121,12183407,12010864,11955671,11854439,11774072,11749050,11558822,11452143,11403040,11389067,11303589,11221602,10614688,10227395,9890157,9823305,15489334,15475877,15386537,15382051,15342693,15342454,15333708,15299091,15297370,15285606,15255550,15255109,15199113,15177664,15128046,15122594,15102677,15075793,15072827,15041720,14961553,14744739,14734460,17429315,17403528,17372243,17372239,17363580,17321191,17311112,17301257,17224914,17224759,17220347,17200336,17187946,17174438,17164573,17157584,17077994,17063266,17053044,17035385,16985250,16985026,16978616,16977255,16963504,16949388,16896040,16864595,16862072,16850246,16847423,16808847,16766147,16735994,16735991,16730930,16716118,16688110,16638984,16598069,16569655,16490498,16384942,16319821,16319265,16284375,16260521,16207128,16202920,16172230,16172228,16115918,16103451,16051642,16006997,15987428,15958554,15941966,15905203,15896461,15861043,15808404,15777990,15774541,15734958,15734954,15733270,15723004,15654505,15636228,15596250,9497261,9463332,8910454,8175734,1925598,17513330 1599716,728267 1545 NM_000104,AC009229,AF171066,AF450132,AY393998,CH471053,DQ016495,DQ359216,U56438,BC012049,BT019979,BT020001,U03688 NP_000095,AAY15039,AAG43404,AAM50512,AAQ87875,EAX00382,EAX00383,AAY34975,ABC95161,AAC50809,AAH12049,AAV38782,AAV38804,AAA19567,Q16678,Q2HZ43,Q4U3K8,Q53TK1,Q5TZV6,Q5TZW8 Hs.154654 GDB:353515 CP1B|GLC3A|P4501B1 cytochrome p450, subfamily 1b, polypeptide 1 protein-coding 1606532 CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. 15191668,14702039,12975309,12477932,11178272,9890157 57404 NM_177538,AC011737,AC080075,CH471063,AF183412,AF289579,AK021770,AL832998,AY359068,BC020616,BC033752,BC093022,BM141805,BM998900,CR590564,CR595024,BM142090 NP_803882,AAX88915,AAY14934,EAW70332,EAW70333,EAW70334,AAG09681,AAL55763,CAH56305,AAQ89427,AAH20616,AAH33752,AAH93022,Q53RS5,Q567U3,Q658T6,Q6UW02,Q8WZ13,Q9HC04,ABM81844,ABM84994,ABM84995 Hs.446065,Hs.707756 CYP-M|MGC22229 protein-coding 1347734 CYP21A1P cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene 18039588,17666484,17275379,15941926,15793784,15036125,14502362,12121677,3487786,3486422,3038528,2845408 1590 NG_004658,AL645922,M12793,M13935,M26857 GDB:120606 CYP21A|CYP21P|P450c21A pseudo 1346271 CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency. 1580863 15775714,15761541,15751603,15705377,15627780,15608154,15598692,15572419,15493145,15126570,15110320,15027205,15004406,14733808,14715874,14702039,14676461,14676460,14671153,14514162,14502362,12966197,12915679,12887291,12876419,12855227,12788889,12788880,12788866,12746407,12477932,12464252,12384784,12370110,12222711,12220458,12213891,12213672,12121677,12050257,12050231,12038604,12028996,11836313,11746135,11739456,11692155,11600539,11598371,11581476,11457572,11287026,11232002,11093272,11073721,10720040,10496074,10443693,10408786,10408778,10391209,10364682,10343159,10229037,10207042,10198222,10094562,10072631,10051010,9661649,9580109,9497336,9215318,9187661,9099896,9067760,8989258,8968761,8731325,8675607,8518786,8485582,8478006,8372604,8175971,8081391,7749410,7635470,7629224,7096533,5804199,3871526,3500473,3497399,3487786,3486422,3267225,3260033,3260007,3257825,3137812,3038528,2845408,2827462,2788081,2325662,2303461,2249999,2072928,18478071,18397975,18392095,18204270,18179706,18042312,18039588,18028896,17878254,17803691,17666484,17551464,17526939,17505149,17466088,17275379,17119906,17047018,17033937,16984992,16788163,16728546,16712666,16648810,16541276,16500637,16487445,16427797,16238926,16046588,15988383,15858147,15830218,15818055,1985465,1937474,1864962,1644925,1605859,1496017,1406709,1406699,1351548 1589 NG_004658,NG_005163,NG_000013,AF019413,AF077974,AL049547,AL645922,AL662828,AL662849,AL929593,CH471081,CR753845,K02771,M12792,NM_000500,M13936,M19711,M21550,M26856,M28548,S60612,X58898,X58899,X58900,X58902,X58904,X58906,X58907,AK054616,AM086564,AM086565,AM183945,AM183946,AM183947,AM183948,AM183949,AM183950,AM183951,BC125181,BC125182,BC128535,M17252 NP_000491,AAB67982,AAD45405,CAB89301,CAQ09290,CAQ09291,CAI17479,CAI17480,CAI41778,CAI41779,EAX03570,EAX03571,CAQ10920,CAQ10921,AAA59706,AAB59440,AAA59695,AAA83248,AAA52063,AAA52064,AAA52065,AAD13914,CAA41702,CAA41703,CAA41704,CAA41706,CAA41707,CAA41709,CAA41710,BAB70774,CAJ31103,CAJ31104,CAJ75799,CAJ75800,CAJ75801,CAJ75802,CAJ75803,CAJ75804,CAJ75805,AAI25182,AAI25183,AAI28536,AAA59985,P08686,Q08AG8,Q08AG9,Q16741,Q16742,Q16748,Q16755,Q16806,Q16874,Q1EM51,Q1EM52,Q1EM53,Q1H8Y2,Q1H8Y3,Q1H8Y4,Q1H8Y5,Q2UVX5,Q2UVX6,Q5JNW8,Q5ST42,Q5ST43,Q5ST44,Q7KYP0,Q7KZ07,Q96NU8,Q9UP07,Q16746 Hs.654479 GDB:120605 CA21H|CAH1|CPS1|CYP21|CYP21B|MGC150536|MGC150537|P450c21B protein-coding 1606586 CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. 8506296,7632726,17932346,17875655,17646648,17606874,17585873,17475215,17368180,17254772,17244366,17223345,17079137,16708384,16691293,16617161,16600026,16516540,16457885,15919092,15788398,15630458,15358094,15078099,14760115,14665637,12855575,12641633,12485911,12477932,11780052,11149490,10218951,8440135,8266831,7938037,7829101,7595086 1591 NM_000782,AL138805,CH471077,U60669,AI400154,AW022349,AY858838,BC109083,BC109084,BM928702,BU662901,L13286,N29030,S67623 NP_000773,CAB91829,EAW75573,AAB03776,AAW50795,AAI09084,AAI09085,AAA62379,AAB29308,Q07973,Q32ML3,Q5I2W7 Hs.89663 CP24|CYP24|MGC126273|MGC126274|P450-CC24 protein-coding 731375 CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. 737785,1580863 9228017,17460545,17218384,17059167,16933217,16778795,16463413,16194896,16053444,15281009,14702039,12727970,10976925,10874126,10583049,9826557,9716180,9521883,9228041,8601734 737785 1592 NM_057157,NM_000783,AL358613,CH471066,AF005418,AK027560,AK075374,CR598753,CR604765 NP_476498,NP_000774,CAH72803,CAH72804,EAW50078,EAW50079,AAB88881,O43174,Q5VXH9,Q5VXI0,AAI56284,AAI57064 Hs.150595 GDB:5204190 CP26|CYP26|P450RAI|P450RAI1 cytochrome p450, 26, retinoic acid protein-coding 736189 CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and the synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene is involved in the specific inactivation of all-trans-retinoic acid to hydroxylated forms, such as 4-oxo-, 4-OH-, and 18-OH-all-trans-retinoic acid. 1580863 16933217,16574820,15815621,15489334,12477932,12101034,11744378,10823918,10545224 56603 NM_019885,AC007002,CH471053,AF252297,AW873673,BC069443,BC109205,CR749631 NP_063938,AAY14690,EAW99761,AAF76003,AAH69443,AAI09206,CAH18425,Q68D05,Q9NR63 Hs.91546 CYP26A2|DKFZp686G0638|MGC129613|P450RAI-2 protein-coding 1318849 CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. 16933217,15164054,14532297 340665 NM_183374,AL358613,CH471066,AK127234,AK131099,AY356349 NP_899230,CAH72802,EAW50080,EAW50081,BAC86895,BAC85149,AAQ55485,Q6V0L0,Q6ZNJ6,Q6ZSQ2 Hs.369993 FLJ45301 protein-coding 1346613 CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. 1600654,1600872,1600874,1580863 9790667,18227423,17875655,17697869,17482558,17292862,16930540,16584175,16372260,16157755,15708352,15533057,15489334,15340076,14741198,14672608,12777473,12477932,12242561,12119285,12117727,12011083,12000359,11903362,11604260,11167933,10519880,9373149,9215552,9186905,8514861,8125298,7915755,7690968,2019602,1708392 1600654,1600872,1600874 1593 AC009974,CH471063,S62709,AK226039,AK290418,AY178622,BC017044,BC040430,BC051851,CR590744,CR592594,CR623283,M62401,X59812,NM_000784 NP_000775,EAW70653,EAW70654,EAW70655,AAB27199,BAF83107,AAO21126,AAH40430,AAH51851,AAA52142,CAA42481,Q02318 Hs.516700 GDB:128129 CP27|CTX|CYP27 protein-coding 69201 CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. 1600874,734871,1580863 9344864,9333115,18476984,17932346,17878529,17606874,17488797,17426122,17395703,17395559,17368179,17287116,17267208,17254772,17250953,17236759,17223345,17207994,17207990,17079137,17023519,16720713,16549446,16061850,15956353,15947108,15934135,15795327,15589699,15342556,15331405,15296474,15243130,15225751,14671156,12855575,12746631,12520522,12496369,12477932,12386916,12161526,12137802,12107095,12050281,12050193,12039697,10566658,10359826,10320521,9837822,9486994,9428799,9415400,9295274,9282826,1971995,1690216,1662663,12457456,11799066 1600874,734871 1594 NG_007076,AB005990,AB006987,AC025165,AF027152,AF072470,AF256213,AF500480,AY288916,CH471054,AB005038,AB005989,AF020192,AF246895,AW449645,BC001776,BC020267,NM_000785,BC136386,BP296031,DQ925362,DQ925363,DQ925367,DQ925368,DQ925369,DQ925370 NP_000776,BAA22657,BAA23418,AAC51854,AAD38325,AAG00416,AAM21669,AAP31972,EAW97067,BAA23416,BAA22656,AAC51853,AAF64299,AAH01776,AAI36387,O15528,Q548T3,Q7Z654,Q8NI03,Q9UP42 Hs.524528 GDB:9835730 CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR protein-coding 1605811 CYP27C1 cytochrome P450, family 27, subfamily C, polypeptide 1 12477932 339761 NM_001001665,AC110926,CH471103,AK131190,BC039307 NP_001001665,EAW95308,EAW95309,EAW95310,BAD18388,AAH39307,Q4G0S4 Hs.407639 FLJ16008 protein-coding 1353365 CYP2A cytochrome P450, family 2, subfamily A 15128046 1546 NG_000008 GDB:120607 1352512 CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. 1580863 17428784,16835796,16316926,15618722,15333516,15222883,15128046,15115698,15063809,14633739,12920161,12721789,12130698,11016631,10353262,9890157,8587134,7668294,7581481 1553 NM_000766,NG_000008,AC008962,CH471126,U22028,AF209774,AY513604,AY513605,AY513606,AY513607,AY513608,AY513609 NP_000757,EAW57016,AAB40519,AAG35775,AAR90935,AAR90936,AAR90937,AAR90938,AAR90939,AAR90940,Q16696,Q6R569,Q6R570,AAI48423,AAI53001 Hs.567252 GDB:698176 CPAD|CYP2A protein-coding 1343424 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. 1580863 15665333,7864805,9827545,2322567,18425152,18380793,18360915,18216723,15900015,15861044,15861035,15671201,15660270,15618701,15592323,15564629,15534625,15489334,15475735,15469410,15454735,15370155,15327835,15308589,15225612,15203795,14981342,14583682,14568264,12883749,12844137,12749606,12721789,12708602,12477932,12445030,12419832,12406643,12325023,12223434,12172220,12164325,12162851,12115524,11960914,11960911,11927840,11927498,11805739,11725533,11684323,11434509,11278503,11259349,11241319,11237731,11207029,11054771,10781881,10544257,9890157,9409631,8587134,7668294,7581481,4011450,3856261,2748347,2726448,1944238,1889415,18212800,18188752,18004205,17979512,17934923,17927692,17916905,17683511,17646279,17549345,17540336,17522595,17454707,17267622,17259654,17220563,17207267,17156750,17130279,17112802,17036930,17015050,16952495,16891249,16857725,16758265,16720336,16636685,16470306,16452582,16402128,16402086,16378601,16377082,16372023,16272956,16207711,16176798,16126166,16086027,16048566,16041240,16006997,15993850,15940289,15039299 1548 NG_000008,AC008537,AF326721,CH471126,EU135979,U22027,AF182275,BC096253,BC096254,BC096255,BC096256,M33318,X06401,X13897,NM_000762,X13929 NP_000753,AAG45229,EAW57012,ABV02584,AAB40518,AAF13600,AAH96253,AAH96254,AAH96255,AAH96256,AAA52067,CAA32097,CAA32117,P11509,Q13120 Hs.439056 GDB:377803 CPA6|CYP2A|CYP2A3|P450C2A|P450PB protein-coding 1353273 CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. 1580863 7864805,16636685,15128046,12477932,12325023,11960914,10493259,10353262,9890157,8587134,8043031,7668294,2322567 1549 NM_030589,NM_000764,NG_000008,AC008537,CH471126,BC117165,M33317,U22029 NP_085079,NP_000755,EAW57013,EAW57014,AAI17166,AAA52138,AAB40520,P20853,Q17RW7 Hs.250615 GDB:698178 CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4 protein-coding 1354364 CYP2A7P1 cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1 11692077,8587134,7668294 1550 NG_000008,AC008537,AC011541,AC023172,AC092071,U22030,U22044 Hs.250615 GDB:698179 CYP2A18PC|CYP2A18PN|CYP2A7P2|CYP2A7PT pseudo 1350022 CYP2B cytochrome P450, family 2, subfamily B 1554 GDB:120752 1346751 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. 1580863 18281305,18223457,18171905,18090046,18057928,18024866,18004205,17918089,17900275,17885627,17682072,17654295,17638512,17559344,17502835,17465455,17455229,17407229,17391322,17356468,17352764,17329992,17309129,17235330,17223085,17178267,17054410,17047492,17015050,16951995,16912957,16815693,16772608,16623664,16538176,16506047,16495778,16433869,16392089,16338275,16267764,16183265,16125881,16116487,15864119,15825040,15622315,15572372,15469410,15383491,15284537,15248218,15194512,15190123,15178651,15128046,15057824,14977870,14515060,12814665,12738724,12721789,12642465,12629583,12571232,12490624,12477932,12439223,12242601,12207635,11991950,11602525,11470993,11353758,11298076,11243870,10768437,10471061,15563456,10037683,9890157,9179987,8587134,8432525,7668294,2899870,2813061,2573390,2308828,15319333,15039299 1555 NM_000767,NG_000008,AC011541,AC023172,AF081569,CH471126,DQ298753,AF182277,BC067430,BC067431,M29874,X06399,X06400,X13494 NP_000758,AAF32444,AAD25924,EAW57015,ABB84469,AAF13602,AAH67430,AAH67431,AAA52144,P20813,Q6NWU1,Q6NWU2,Q9UNX8 Hs.1360 GDB:698181 CPB6|CYP2B|CYPIIB6|IIB1|P450 protein-coding 1347013 CYP2B7P1 cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 17885627,15128046,12477932,7668294,2573390 1556 NR_001278,NG_000008,AC008537,AC092071,BC041174,M29873 Q14097 Hs.529117 CYP2B|CYP2B7|CYP2B7P pseudo 1322740 CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP4217 is now considered an artefact based on a chimera of CYP4218 and CYP2C19. 1580863 8110777,17048007,15489334,15302935,15164054,12694732,12477932,12378636,11093772,10768437,10704292,10487415,9890157,9797707,9373149,9154796,9028867,8333835,8125298,8095407,7704034,2009263,1896026,1306110,15319333 1562 NM_000772,AL157835,AL583836,CH471066,L16876,S63426,X56452,AK223510,BC069666,BC096257,BC096258,BC096259,BC096260,BX538127,M61853,M61856 NP_000763,CAH74067,EAW50024,AAA02630,ABB76283,CAA39833,BAD97230,AAH69666,AAH96257,AAH96258,AAH96259,AAH96260,CAD98029,AAB59356,P33260,Q16750,Q2XN56,Q4VAT5,Q4VAT6,Q53EX9,Q7Z348 Hs.511872 GDB:128983 CPCI|CYP2C|CYP2C17|DKFZp686I24235|P450-6B/29C|P450IIC17 protein-coding 737416 CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. 1580863,1357962,1300048 17290075,17279092,17269966,17215846,17203292,17201743,17178267,17112810,17052843,17048007,17047492,17047431,17003844,16960452,16946555,16937451,16924387,16912869,16911688,16908943,16890578,16890574,16873909,16863547,16862439,16855453,16815316,16815315,16812949,16789993,16783561,16772608,16771603,16740190,16641871,16638864,16595916,16487225,16487224,16413245,16338280,16338278,16338275,16307177,16268979,16267764,16261363,16239354,16236141,16232205,16231968,16220110,16198656,16183265,16141610,16133961,16116487,16048566,16025294,3442670,18482659,18466100,18425152,18423013,18399167,18394438,18382661,18346178,18323861,18319058,18312490,18294333,18241287,18241283,18240905,18240903,18231117,18224311,18223462,18211619,18205890,18154472,18061941,18057705,18024866,18021343,18004210,17992535,17978853,17966194,17934830,17924835,17922881,17909762,17900275,17875119,17868191,17827141,17697203,17697139,17681590,17680025,17667959,17667801,17666363,17635181,17635176,17625515,17623107,17562299,17559380,17504998,17502835,17487889,17455109,17450472,17439410,17433262,17424941,17418993,17417917,17410461,17407229,17377957,17358097,17357148,17309129,17304159,17298483,17295875,12172336,12171978,12142727,12130704,12121503,12047484,11956668,11950794,11927837,11908757,11865668,11836688,11829201,11791894,11785712,11773867,11763000,11713950,11686476,11474773,11372584,11263781,11240980,11207032,11076863,11037802,10411572,10233205,10022751,9890157,9732415,9435198,9398194,9103550,8894508,8530044,8195181,8110777,8095407,7969038,7704034,2009263,15319333,15039299,16024198,16021435,16012079,16006997,15976989,15963095,15963082,15952098,15932363,15903128,15856433,15855721,15842554,15813658,15776277,15752376,15715938,15691505,15691303,15662508,15660966,15651900,15639978,15612662,15608563,15590749,15569425,15499191,15496639,15469410,15448955,15447734,15385837,15385836,15371981,15349706,15327595,15301728,15285851,15284537,15248218,15222046,15205367,15177309,15171646,15164054,15145965,15119530,15090156,15068562,15025747,15017629,14998561,14990013,14695703,14659971,14653835,14636465,14634838,14634042,14616425,14583683,14520122,13680037,12975335,12963435,12950145,12919183,12900872,12900870,12879168,12835613,12823155,12809821,12732844,12698310,12656699,12642692,12623762,12534411,12496751,12477932,12468438,12464799,12445035,12419832,12386647,12360109,12235924,12222750 1357962 1557 NM_000769,AB113829,AL133513,AL583836,AY796203,L39098,L39102,L07093,M61854,X65962 NP_000760,BAD02827,CAH73444,CAH74068,AAV41877,AAL31347,AAL31348,AAA36660,AAB59426,CAA46778,P33261,Q16743,Q767A3,AAI11847 Hs.282409 GDB:119831 CPCJ|CYP 2C|CYP2C|P450C2C|P450IIC19 cytochrome p450, subfamily iic (mephenytoin 4-hydroxylase) protein-coding 1606589 CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. 18303964,18216720,17925548,17923851,17913794,17701008,17670841,17635176,17627038,17558302,17429317,17373732,17241877,17224914,17178266,17175891,17048007,16957870,16856883,16646575,16538176,16475901,16390351,16372821,16359408,16299241,16253141,16202848,16164496,16141797,16025294,15961978,10704292,10487415,9890157,9797707,9586955,8870687,8530044,7841444,7704034,7574697,3697070,3500169,3196692,2729895,2216732,2009263,1707679,12756206,15319333,15933212,15901749,15864120,15785959,15716363,15606441,15469873,15469410,15289789,15074466,14676196,14646690,14534525,12936704,12920163,12756196,12477932,12435384,12429347,11668219,10874126,10768437 1558 NM_000770,AL359672,AY514490,CH471066,X54807,AK292753,AK315823,BC020596,M17397,M17398,M21941,M21942,X51535,Y00498 NP_000761,CAH71307,AAR89907,EAW50016,EAW50017,EAW50018,CAA38578,BAF85442,BAF98714,AAH20596,AAA35739,AAA35740,AAA52160,AAA52161,CAA35915,CAA68550,P10632,Q5VX93,Q8WWB1,Q9UCZ9,ABM82326,ABM85505 Hs.282871 GDB:127450 CPC8|MP-12/MP-20 protein-coding 1317784 CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. 1580863 2827463,18034618,18030307,18024866,18021343,17989110,17955230,17900275,17899045,17895500,17868191,17851566,17849045,17827141,17764537,17721328,17686967,17681167,17653141,17635185,17635181,17635176,17627038,17627011,17603219,17597710,17596671,17596133,17577464,17572144,17562299,18034619,17558303,17510308,17504998,17479200,17460547,17446262,17419358,17418993,17413769,17397249,17391071,17368604,17332144,16006997,15970795,15963101,15961979,15947090,15940194,15924351,15919766,15900282,15900281,15896241,15889670,15888487,15855721,15842554,15841315,15824753,15813658,15795654,15790782,15776277,15742978,15714076,15691505,15660966,15632378,15617742,15608560,15606441,17325732,17324110,17304159,17301738,17298483,17279092,17269966,17226852,17201743,17192772,17178267,17167248,17157122,17111199,17110455,17085674,17049586,17048007,17015052,16985032,17329986,16985026,16969365,16957870,16924387,16890578,16882880,16878445,16873909,16847664,16847429,16815313,16797247,16784736,16771603,16749864,16740353,16708125,16699986,16676068,16646575,16639745,16638864,16635054,16630605,16627267,16611750,16595916,16580898,16552506,16541193,16538176,16432637,16424822,16413010,16372821,16342679,16338275,16325295,16321620,16305587,16305586,16303885,16297214,16268502,16253141,16236141,16232205,16220110,16202848,16198656,16198655,16187974,16183265,16160068,16141797,16141794,16116487,16111713,16099926,16094537,16082538,16025294,3032244,18480003,18466099,18429757,18425152,18419640,18399713,18378563,18370846,18322281,18315785,18305455,18303964,18281915,18252229,18240905,18240903,18231117,18216720,18211048,18204476,18183038,18154472,18061941,15024534,15005635,15001972,15001971,14739630,14726986,14707031,14691574,14691573,14676821,14661864,14656880,14646690,14634838,14634042,14616425,14614357,14583800,14520122,14504850,14500040,12950145,12913403,12900870,15606435,15592327,15588114,15569819,15569425,15536456,15469410,15452553,15385837,15371982,15370961,15369736,15290664,15289788,15284536,15284535,15260906,15248218,15229460,15226678,15222661,15213846,15199455,15197523,15177309,15175798,15145963,15128048,15116053,15116052,15102864,15100169,15090156,15070684,15066644,15061384,15050794,15048614,12891229,11893129,11876753,11833786,11740344,11697742,11678789,11588061,11503012,11455026,11434505,11422024,11397381,11372590,11325819,11298075,11186133,11127854,10739176,10704292,10073515,9890157,9663807,9398194,9110362,8946475,8809086,8530044,8333835,8215449,8095407,7841444,7704034,3697070,3243766,3196692,3079764,2963808,2009263,1857342,1445376,15039299,12879168,12861225,12844136,12805007,12803577,12800253,12734606,12732844,12728288,12698304,12682803,12668916,12634980,12621390,12603175,12559973,12534640,12509498,12496751,12477932,12464247,12451434,12445031,12435384,12426520,12419832,12414349,12406644,12360109,12359989,12235454,12207635,12181452,12152005,12047484,12010835,11991950,11960920,11956512,11950794,11926893,11911968,11908757 1559 NM_000771,AL359672,AY341248,AY702706,AY904366,CH471066,L16880,L16883,AK289420,BC020754,BC070317,BC125054,D00173,M21940,M61855,M61857,S46963 NP_000762,CAH71303,AAP88931,AAT94065,AAW83816,EAW50019,EAW50020,AAD13466,AAD13467,BAF82109,AAH20754,AAH70317,AAI25055,BAA00123,AAA52159,AAB23864,P11712,Q5EDC5,Q5VX92,Q6IRV8,Q8WW80,Q9UEH3,Q9UQ59 Hs.282624 GDB:131455 CPC9|CYP2C|CYP2C10|MGC149605|MGC88320|P450 MP-4|P450 PB-1|P450IIC9 protein-coding 736217 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20% of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome 22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1358549,1300401,1580863 16189709,16162505,16160620,16141609,16130179,16079496,16048566,16037945,16025294,16024198,16006997,15987423,15970126,15952058,15932952,15914211,15861039,15855722,15843230,15820320,15817819,15813658,15774926,15770075,15769360,15768052,15764408,15731591,15729081,15726636,15708542,15691505,15690482,15669884,15651900,15648054,15646732,15632378,15625333,15618665,15592325,15590749,15588859,15584944,15538128,15499201,15489334,15484318,15470329,15469888,15469410,16198657,18287869,18280655,18261353,18258609,18240905,18231117,18223460,18214456,18211048,18204346,18202841,18197300,18183034,18167502,18086475,18075468,18070221,18061941,18048313,18034624,18024866,17992535,17971818,17966194,17965522,17965519,17957765,17947222,17909762,17908053,17882159,17828532,17803873,17764479,17761971,17725248,17715206,17714084,17713466,17701031,17700359,17697394,17667959,17667795,17635183,17635181,17624022,17610534,17609736,17581325,17573783,17570739,17568504,17554527,17547692,17541883,17536768,17530572,17517247,17503978,17479406,17470523,17460029,17454842,17450472,17449559,17442289,17431033,17418993,17392730,17374963,17361124,17329852,17325735,17324244,17311358,17304721,17301689,17297618,17289397,17270484,17259947,17250723,17244352,17242628,17241532,17234366,17225875,17224713,17194620,17186005,17178267,17115111,17113562,17102541,17089107,17038884,16960721,16924387,16880622,16864175,16858124,16855473,16849011,16845507,16835697,16833023,16815318,16812949,16778723,16775389,16771603,16716118,16679388,16642541,16638864,16638736,16633141,16633140,16611538,16595916,16584388,16551910,16550211,16544144,16537246,16534507,16493615,16490169,16478753,16476126,16466686,16459354,16423440,16415111,16361630,16352597,16337409,16315032,16294366,16283274,16272752,16249913,16239355,16236141,16220080,16819548,16205777,18445827,18433425,18425996,18425152,18423013,18414197,18407954,18401578,18384443,18382661,18372530,18346175,18327668,18317231,18304900,18300942,12589966,12579870,12569554,12548461,12536989,12503836,12490310,12486288,12477932,12468438,12459840,12446689,12439227,12438554,12426523,12422998,12421483,12419832,12404686,12392820,12386646,12386645,12360109,12210290,12207635,12206675,12191703,12187002,12177686,12175908,12172336,12172215,12171978,12171760,12152006,12142727,12107620,12106691,12089164,12077255,12065557,12063626,11940091,11927839,11901361,11895912,11829201,11816009,11809184,11791895,11778144,11763000,11753272,11753271,11751440,11750286,11741249,11735606,11702057,11682257,11668217,11560558,11549206,11520401,11505219,11477317,11470994,11442888,11422615,18294285,15461802,15382273,15349706,15349705,15330195,15313161,15289790,15260906,15256524,15237854,15205367,15177309,15149890,15118351,15116051,15115913,15108188,15090156,15068562,15061826,15051713,15048614,15039299,15005635,14991823,14985156,14748763,14726986,14726620,14716707,14658041,14653957,14652703,14640293,14639062,14635107,14624403,14602525,14571354,14557687,14520122,14515061,14514498,14499440,14499311,13680033,12963435,12960748,12950145,12942225,12919180,12915955,12911679,12900872,12900870,12893130,12883230,12879776,12879168,12861292,12784098,12782969,12766554,12748560,12743673,12734765,12728976,12691769,12657030,12651805,12629505,12622923,12616663,12610741,11422605,11376189,11372584,11303596,11295783,11294012,11291049,11266079,11214775,11207032,11207030,11204351,11147929,11097352,11097351,11055624,11037802,11037800,10675100,10493260,10233205,10064570,9890157,9241659,8971426,8655150,8634695,8530011,8449513,8287064,7951238,7927337,7903454,7868129,7845481,3410476,3123997,2574001,2466049,2211621,1978565,1978251,1844820,1673290,11505218,12756206,12006905,15319333,9264312,12756210 1358549,1300401 1565 AB209492,BX096000,BX422592,CB124853,CK032845,CR456430,M20403,M24499,X07618,X08006,X16865,X16866,NM_000106,NG_003180,AY545216,BX247885,CH471095,DQ211353,DQ211354,DQ211355,DQ282144,DQ282145,DQ282146,DQ282147,DQ282151,DQ282152,DQ282153,DQ282154,DQ282155,DQ282156,DQ282157,DQ282158,DQ282159,DQ282160,DQ282162,M33189,M33388,AY663389,AY663390,BC066877,BC067432,BC075023,BC075024,BC106757,BC106758,BC126858,NM_001025161 Q59FG8,Q5Y7H2,Q6ICD8,Q6NWU0,Q6NXU8,BAD92729,CAK54644,CAK54943,Q3KPF3,CAG30316,AAA52153,AAA36403,CAA30807,P10635,Q007T9,Q16753,Q16804,Q2XND0,Q2XND2,Q2XND3,Q2XND6,Q2XND7,Q2XND8,Q2XNE0,Q38LF9,Q38LG0,Q38LG2,NP_001020332,NP_000097,AAS55001,EAW60492,EAW60493,ABB01370,ABB01371,ABB01372,ABB01373,ABB77895,ABB77896,ABB77897,ABB77898,ABB77899,ABB77900,ABB77901,ABB77902,ABB77903,ABB77904,ABB77905,ABB77906,ABB77907,ABB77908,ABB77909,AAA35737,AAA53500,AAU87043,AAH66877,AAH67432,AAH75023,AAH75024,AAI06758,AAI06759,AAI26859 Hs.648256 GDB:132127 CPD6|CYP2D|CYP2D@|CYP2DL1|MGC120389|MGC120390|P450-DB1|P450C2D cytochrome p450 2d18 protein-coding 1346997 CYP2D7P1 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 This pseudogene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. It is possible that, in rare cases, a combination of two SNPs in this gene may result in an open reading frame encoding a functional enzyme which metabolizes codeine to morphine. This locus is part of a cluster of cytochrome P450 genes on chromosome 22q13.1. 17494644,16400609,16169517,15051713,12477932,12171760,2574001 1564 NR_002570,NG_003180,BX247885,M33387,AY220845,BC108679,CR614586,CR622160 AAO49806,Q007T8,Q6XP50 Hs.333497 GDB:119832 CYP2D|CYP2D@|P450C2D|P450DB1 pseudo 1352907 CYP2D7P2 cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2 1358797 1567 NG_005574,X58467 GDB:135504 CYP2D7BP pseudo 1606588 CYP2D8P1 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 1 2574001 1568 NG_003180,BX247885,M33387 GDB:132128 CYP2D8P|CYP2DP1 pseudo 1352043 CYP2D8P2 cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2 1358797 1566 NG_000853,BX247885,X58468 GDB:135503 CYP2D7AP pseudo 1345007 CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. 1580863,1626305,1626302 10731522,10741631,11701230,3233219,18466102,18460770,18423013,18420361,18369917,18327668,18322963,18304215,18261353,18258609,18231117,18218609,18211048,18056994,18034693,18028774,18025800,17996038,17963298,17950035,17935737,17916905,17885617,17695473,17659824,17627011,17617119,17611777,17603900,17584020,17577619,17564586,17559142,17498780,17486761,17442289,17440116,17427487,17384900,17380320,17373732,17367411,17361553,17331164,17292341,17284772,17264406,17219769,17178637,17176083,17156750,17146594,17134659,17119944,17119198,17118447,17078101,17059334,17034788,17022435,17016589,17007050,16985032,16985026,16962935,16841220,16837478,16834659,16770646,16758119,16721740,15064998,15061915,15036355,14991750,14757192,14751678,14696128,14695664,14695651,14691069,14681495,14669323,14661969,14646291,14634838,14606109,14578150,14535982,14527082,14510941,14500779,12960506,12940444,12939804,16720291,15914277,15914211,15902904,15899651,15849806,15793883,15780023,15774926,15769360,15763499,15753073,15734972,15714076,15712341,15660387,15646021,15640066,15633127,15632182,15536330,15532721,15519646,15491310,15469410,15370874,15355699,15349722,15327835,15318112,15289170,15226677,15220553,15215328,15182482,15177663,15162526,15138035,15125228,15112335,15066574,16679316,16634857,16600530,16551616,16535827,16497268,16488179,16484137,16471212,16470306,16459354,16440362,16425414,16424825,16393248,16380384,16372174,16365683,16337880,16324524,16311924,16253141,16235992,16235983,16172237,16142352,16137184,16126235,16125881,16052683,16043197,16039674,16019049,16006997,15991278,15968714,15961886,15938845,15928955,12915519,12883749,12883487,12860273,12851035,12824892,12824748,12813050,12777965,12777962,12777398,12774019,12771559,12767509,12760253,12759747,12739102,12738724,12732844,12721789,12718671,12718576,12710951,12707490,12705718,12668988,12601351,12579334,12569554,12563175,12561466,12554615,12552594,12548461,12540498,12490624,12477932,12469218,12460800,12454736,12452057,12403788,12397416,12376511,12376502,12365037,12355548,12351530,12211622,12198369,12172927,12115524,12080432,12063626,12055050,12047484,12010862,11966948,11964928,11960914,11911601,11907164,11895912,11869835,11854903,11815398,11802217,11798822,11782477,11776598,11774269,11766168,11751440,11748356,11746208,11719088,11700262,11697456,11696658,11675150,11641039,11535253,11535247,11520401,11503278,11422615,11410713,11406608,11389775,11377232,11331106,11305777,11275366,11263781,11259352,11236836,11207032,11198676,11191882,11104220,11051375,10620320,9918138,9890157,9834965,9398194,9129165,9058590,8809087,8307581,8031147,7773503,7733943,7529759,3782137,3675576,2587619,1778977,1719479,14499622,11756225 1626305,1626302 1571 J02625,S77873,AL161645,CH471211,D10014,D50111,DQ515958,J02843,AF084225,AF182276,AJ853939,AJ853940,AJ877238,AK290822,BC067433,BC067435,BX951478,CR592801,CR603555,CR618024,CR621945,CR622294,CR626742,CR626746,NM_000773,DQ149222 AAZ77710,AAA35743,AAD14267,P05181,Q16868,Q3YA63,Q4LBD0,Q573G9,Q573H0,Q59EW1,Q5VZD5,Q6LER5,Q6NWT7,Q6NWT9,NP_000764,CAH70047,EAW61357,EAW61358,BAA00902,BAA08796,ABF47105,AAA52155,AAD13753,AAF13601,CAH69381,CAH69382,CAI47002,BAF83511,AAH67433,AAH67435 Hs.12907 GDB:119833 CPE1|CYP2E|P450-J|P450C2E protein-coding 1351527 CYP2F1 cytochrome P450, family 2, subfamily F, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. 1580863 1974816,17943660,17327131,16883522,12598524,12477932,11827709,10383923,9539103,8619884,8587134,8432525,2045106 1572 NM_000774,NG_000008,AC008962,AF372573,CH471126,BC109056,BC109057,J02906 NP_000765,AAL69652,EAW57017,EAW57018,AAI09057,AAA52156,P24903,Q32MN5,Q8WWJ2 Hs.558318 GDB:119834 C2F1|CYP2F|MGC126121 protein-coding 1350226 CYP2F1P cytochrome P450, family 2, subfamily F, polypeptide 1 pseudogene 1300428 11827709,11692077 1300428 171427 NG_000008,AC008537,AF372495,AF372496,AF372497 GDB:11509000 pseudo 1347954 CYP2G1P cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene 11186129,8561797 22952 NG_000008,AC008537,AF274763,AF274764,AF274765,AF274766,AF274767,S80997 AAB35962,Q16411 CYP2G1|CYP2G2P|CYP2GP1 pseudo 1342578 CYP2G2P cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene 15128046,11692077,11186129 83757 NG_000008,AC008962,AF274755,AF274756,AF274758,AF274759,AF274760,AF274761,AF274762 CYP2G2|CYP2GP2 pseudo 1354467 CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. 1625384,1625377,1625385,1625379,1580863,1625380,1625381 8631948,18303964,18219097,18216721,18004755,17979511,17705402,17638876,17475630,17470359,17429317,17327508,17286575,17162467,17126841,16957870,16842392,16202848,16182271,16008525,15864120,15861034,15489334,15466638,15361551,15256482,14702039,14575523,12737630,12477932,12386130,11901223,10828211,10681399,10405341,10065373,9570962,9187259,9048644,8913342 1625384,1625377,1625385,1625379,1625380,1625381 1573 NM_000775,AC113175,AF039089,AF272142,AY426985,CH471059,CR600649,CR614246,CR614399,CR623325,U37143,AB080265,AF144566,AK055088,BC032594,CR596384 NP_000766,AAK63192,AAM44456,AAQ93356,EAX06611,EAX06612,EAX06613,AAC50370,P51589,EAX06614,BAB85489,AAD30164,AAH32594,Q8TF13,Q96RX4,Q9UN91,ABM81788,ABM84943 Hs.152096 GDB:1320397 CPJ2 protein-coding 1348432 CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. 1580863 18476984,17607662,17223345,16600026,15489334,15465040,15128933,14702039,12867411,12477932,12464240 120227 NM_024514,AC090835,AY800276,CH471064,AK092584,AW138676,AY323817,BC052580,BC104907,BC104909,BC111070,CR600246 NP_078790,AAV65814,EAW68470,EAW68471,EAW68472,EAW68473,AAQ23114,AAI04908,AAI04910,Q6VVX0 Hs.371427 MGC4663 protein-coding 1314487 CYP2S1 cytochrome P450, family 2, subfamily S, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. 1580863 17529885,17495422,17280660,17277313,15489334,15450424,14702039,12975309,12721789,12711469,12477932,11181079,7566098 29785 NG_000008,AC011510,CH471126,AA316622,AF335278,AK027605,AY358603,BC033691,BX422464,NM_030622 NP_085125,EAW57019,EAW57020,EAW57021,AAK13498,BAB55227,AAQ88966,AAH33691,Q96SQ9,ABM84289,ABM87680 Hs.98370 GDB:11500997 protein-coding 1342679 CYP2T2P cytochrome P450, family 2, subfamily T, polypeptide 2 pseudogene 11692077 171523 NG_000008,AC008537 GDB:11509002 pseudo 1351125 CYP2T3P cytochrome P450, family 2, subfamily T, polypeptide 3 pseudogene 11692077 163007 NG_000008,AC008962 GDB:11509004 pseudo 1319774 CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. 1580863 15588491,14975754,14660610,12477932,12107412 113612 NM_183075,AC096564,AC114733,CH471057,AK026498,AK290002,AY343323,BC012027,BC132767,BC136483,BU838483,BX354124,BX437421,CD672608 NP_898898,EAX06215,EAX06216,EAX06217,BAF82691,AAQ21380,AAH12027,AAI32768,AAI36484,Q7Z449 Hs.109087 P450TEC protein-coding 1313076 CYP2W1 cytochrome P450, family 2, subfamily W, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. 1580863 17998294,17979506,16426568,15489334,12477932 54905 NM_017781,AC073957,CH236965,CH471144,AK000366,BC025761,CR599457 NP_060251,EAW87186,EAW87187,BAA91114,AAH25761,Q8TAV3,Q9NXA2 Hs.272795 MGC34287 protein-coding 1316685 CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. 1580863 10748047,15489334,12477932,11329013 51302 NM_016593,AL035670,AL591242,CH471081,AF237982,AK292263,BC010358,BC012548,BC034323,BG199773 NP_057677,CAI20276,CAH73899,EAX04297,AAF63329,BAF84952,AAH10358,Q5VTT0,Q9NYL5,ABM83815,ABW03520 Hs.387367 GDB:11505862 protein-coding 68958 CYP3A cytochrome P450, subfamily IIA (niphedipine oxidase) 1574 AF280107 GDB:119835 1352962 CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 This gene, CYP3A4, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs which are are used today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. 1580863 2492107,3460094,11726664,12493773,18433425,18408564,18394438,18385010,18382661,18348473,18309947,18294936,18294295,18258609,18240903,18231117,18217151,18211048,18192894,18163429,18097620,18092806,18058330,18052847,18028890,18021343,18004210,18004209,17992531,17985934,17974099,17965521,17952011,17925548,17925385,17922881,17919884,17919092,17918187,17912464,17900275,17880367,17854673,17827444,17827338,18223457,17766366,17764444,17724065,17704997,17701008,17697139,17691855,17635182,17634410,17624028,17622974,17615053,17609736,17605821,17601520,17582393,17555301,17548691,17548528,17545536,17526937,17526062,17502835,17498886,17495880,17495878,17495874,17465708,17460547,17460031,17434921,17433262,17429319,17418993,17409981,17392393,17373732,17372239,17367411,17364054,17363580,17357589,17352764,17296590,16645157,16633141,16608838,16580902,16538176,16507515,16467307,16434211,16414488,16338276,16321621,16314882,16306861,16299241,16267764,16243813,16207150,16172230,16146556,16130011,16110016,16109480,16103451,16079101,16059671,16006997,16004554,15981231,15932952,15931768,15901749,15900284,15900215,15896485,15882469,15820320,15817670,15801936,15778453,15770075,15770073,15731117,15713537,15708542,15708356,15707415,15698606,15684873,15650881,15634941,15622315,15618745,15611481,15592326,15548719,15546903,12446983,12439220,12419838,12202670,12151999,12147248,12142725,12130689,12107441,12072427,11991950,11956645,11940601,11907494,11890939,11876753,11875366,11809184,11782366,11749050,11745731,11714865,11549683,11470997,11266076,11181494,11161840,11137287,11067821,11051261,10933049,10668853,10331074,10322772,10222036,9890157,9789061,9456308,9088578,8269949,3898085,3464943,3267210,15540736,12464248,3243766,2563251,2463251,1391968,17503272,12756206,15319333,15039299,9394023,12756210,15523087,15496639,15496535,15475069,15469410,15462611,15459178,15454728,15379787,15370963,15334674,15307840,15277015,15260917,15258162,15256616,15114431,14742674,14697480,14693733,14690448,14681232,14660173,14643022,14640293,14580164,14515059,14515058,14504207,12975335,12969965,12966368,12960109,12900872,12900870,12867495,12809821,12747609,12738724,12732844,12695546,12692107,12690205,12644831,12623762,12569554,12532467,12485945,12477932,17279585,17270371,17224914,17220347,17200113,17178267,17162468,17119944,17118447,17083953,17065585,17047492,17042920,17015051,17014074,17007050,16985250,16981844,16954191,16924387,16909599,16906020,16890579,16890574,16862439,16842392,16771603,16765145,16758258,16711396,16684709 1576 NM_017460,NG_000004,AC069294,AF209389,AF280107,AF307089,CH236956,CH471091,D11131,DQ005611,AF182273,AJ563375,AJ563376,AJ563377,AY606313,BC069352,BC069418,BC101631,D00003,DQ924960,J04449,M13785,M14096,M18907,X12387 NP_059488,AAF21034,AAG32290,AAG53948,EAL23866,EAW76635,EAW76636,AAY16980,AAF13598,CAD91343,CAD91645,CAD91345,AAH69418,AAI01632,BAA00001,ABI96208,AAA35747,AAA35742,AAA35744,AAA35745,CAA30944,P08684,Q6GRK0,Q7Z448,Q86SK2,Q86SK3,Q9BZM0 Hs.654391 GDB:118782 CP33|CP34|CYP3A|CYP3A3|HLP|MGC126680|NF-25|P450C3|P450PCN1 protein-coding 1350489 CYP3A43 cytochrome P450, family 3, subfamily A, polypeptide 43 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme has a low level of testosterone hydroxylase activity. Although it bears homology to some drug-metabolizing cytochrome P450s, it is unknown whether the enzyme is also involved in xenobiotic metabolism. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing of this gene results in three transcript variants encoding different isoforms. 1580863 16848237,16314882,15894682,15548719,14759258,14695544,12853948,12477932,11726664,11266076,11243885,11160876,11137287,9890157 64816 NM_022820,NM_057095,NM_057096,NG_000004,AC011904,AF280107,CH236956,CH471091,AA417369,AF280108,AF280109,AF280110,AF280111,AF280112,AF280113,AF319634,AF337813,AJ563376,AJ563378,AJ563379,AY390423,AY390424,AY390425,AY390426,BC100981,BC100982 NP_073731,NP_476436,NP_476437,AAS07394,AAS07395,AAG32291,EAW76630,EAW76631,EAW76632,EAW76633,EAW76634,AAG33009,AAG33010,AAG33011,AAG33012,AAG33013,AAG33014,AAK00325,AAK38841,CAD91644,CAD91646,CAD91648,AAQ92351,AAQ92352,AAQ92353,AAQ92354,AAI00982,AAI00983,Q495Y0,Q495Y1,Q75MK2,Q75MK3,Q7Z2G5,Q9HB50,Q9HB51,Q9HB55 Hs.306220,Hs.654391,Hs.695915 GDB:11499126 MGC119315|MGC119316 protein-coding 1348646 CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5 This gene,CYP3A5, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. The enzyme metabolizes drugs such as nifedipine and cyclosporine as well as the steroid hormones testosterone, progesterone and androstenedione. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. This cluster includes a pseudogene, CYP3A5P1, which is very similar to CYP3A5. This similarity has caused some difficulty in determining whether cloned sequences represent the gene or the pseudogene. 1580863 2732228,18490434,18443548,18429967,18414696,18408564,18394438,18385991,18385010,18382661,18334918,18322448,18319058,18315894,18315786,18309947,18306354,18300941,18294295,18248681,18240903,18223457,18221820,18214455,18212618,18211618,18192894,18058330,18028890,18024866,18021343,17992026,17979523,17979504,17941052,17925548,17922881,17914095,17900275,17885626,17875118,17851225,15634941,15632378,15622315,15596575,15596297,15592326,15548719,15502717,15489334,15469410,15454734,15385835,15289787,15284534,15252010,15248218,15226679,15167702,15116055,15114431,14961555,14747421,14676821,14647405,14515059,14515058,14504207,12975492,12969965,12966368,12960109,12893984,12853948,12822676,12814460,12756511,12754175,12694732,12692107,12690205,12477932,12439220,12433824,12324482,12242601,12202670,12042671,11836601,11809184,11740341,11726664,11502729,11279519,11266076,11137287,10403825,10069460,9890157,9797707,9373149,17827141,17761709,17701008,17700595,17691921,17635182,17635181,17635176,17615053,17605821,17582393,17568575,17554244,17545536,17517050,17510208,17502835,17495881,17495880,17460031,17450472,17443134,17430486,17425754,17395652,17391324,17377957,17373732,17372036,17363580,17358097,17352764,17339868,17329995,17296590,17286792,17264302,17244352,17224914,17198275,17192769,17192506,17178267,17178265,17162466,17049128,17049058,17048977,17047492,17042920,17032130,17015051,16906020,16906018,16847425,16842392,16827636,16822233,16815317,16791115,16772608,16771603,16769602,16765147,16765145,16698990,16684709,16638864,16628701,16614106,16612333,16612255,16595916,16584389,16513443,16442753,16424824,16421475,16361630,16338276,16321621,16314882,16306861,16299241,16272955,16272171,16267764,16253141,16249748,16243813,16207150,16188140,16172230,16168193,16160620,16141800,16116487,16110016,16086282,16024008,16004554,15981231,15978331,15961978,15952872,15931768,15919447,15900284,15900215,15882469,15876487,15833928,15814280,15808586,15801936,15729180,15708542,15707415,15698606,9364212,9070608,8946469,8877031,8869826,8694864,8619884,8619878,8569713,8125298,8004129,7895614,7894497,7883227,7811260,7750548,2802615,15319333 1577 NM_000777,NG_000004,AC005020,AF280107,AF355803,CH236956,CH471091,DQ680079,L35912,AF355801,AJ563378,AJ563379,AK223008,BC022298,BC025176,BC026255,BC033862,BX537676,CR606644,CR611286,CR620792,J04813,L26985 Q14V85,Q53GC3,Q7Z3N0,Q7Z446,Q7Z447,Q86SK1,Q96RK6,Q96RK8,ABM81669,ABM84839,ABM87801,ABW03289,P20815,NP_000768,AAS02016,AAG32288,AAK73691,EAL23868,EAW76638,EAW76639,EAW76640,EAW76641,EAW76642,ABG25922,AAB00083,AAK73689,CAD91347,CAD91647,CAD91649,BAD96728,AAH33862,CAD97807,AAA02993 Hs.695915 GDB:118783 CP35|P450PCN3|PCN3 protein-coding 1344932 CYP3A5P1 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1 17450472,16314882,15937338,12060534,11137287,8569713,7893755,7811260 1578 NG_000004,AC005020,AC069294,AF280107,AF315320,CH236956,L35912 GDB:574123 CYP3AP1 pseudo 1342602 CYP3A5P2 cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2 16314882,11266076,11137287 79424 NG_000004,AC069294,AF280107,CH236956,BX648856,X90579 Hs.695915 GDB:11508998 pseudo 1346597 CYP3A7 cytochrome P450, family 3, subfamily A, polypeptide 7 This gene, CYP3A7, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. The enzyme also metabolizes some drugs such as aflatoxin B1. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Transcript variants have been described, but it is not known whether these transcripts are normally produced. 1580863 2722762,18445661,17885626,17604264,17582393,17559345,17334880,16314882,16041241,15985487,15937338,15489334,12865317,12690205,12485945,12477932,11940601,11266076,11137287,11093772,10950848,9890157,8694864,7894497,2786707,2492179,1562592,15319333 1551 NM_000765,NG_000004,AC069294,AF280107,AF315322,CH236956,CH471091,AF315325,BC067436,BC069780,BX647143,D00408 NP_000756,AAG32289,AAG48617,EAL23867,EAW76637,AAG48618,AAH67436,BAA00310,P24462,Q6KGV3,Q9H241 Hs.111944 GDB:134409 CP37|P450-HFLA protein-coding 1315314 CYP46A1 cytochrome P450, family 46, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. 1358575,1580863 17550732,17335784,16960449,16734927,16258842,16157450,16055229,16013913,15975088,15936520,15489334,15450677,15331159,15286456,15172102,15165699,15106838,15034781,14702039,14640697,12533085,12533083,12477932,12232784,12123847,11698143,11111082,9717719,10377398,17854420 1358575 10858 NM_006668,AL136000,AL160313,CH471061,AB209749,AF094480,AK090886,BC022539 NP_006659,EAW81678,BAD92986,AAD41244,BAC03539,AAH22539,Q59ER2,Q8N2B0,Q9Y6A2 Hs.25121 CP46|CYP46 protein-coding 730831 CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. 1625451,1625567,1580863 7679927,8914854,8274222,18484194,18391101,18385420,18300855,18227405,16957555,16144986,15611369,15028279,12477932,12464262,12464261,11821421,11736898,11139583,10860550,10660572,10024026,9618440,8363569,7798189,1739747,15319333 1625451,1625567 1579 NM_000778,AF208532,AF525488,AL731892,AY369778,BC022851,BC041158,CD014132,D13705,D26481,L04751,S67580,S67581,X71480 NP_000769,AAF76722,AAO16078,CAH72778,CAH72779,AAQ56847,AAH22851,AAH41158,BAA02864,BAA05491,AAA58436,AAB29502,AAB29503,CAA50586,Q02928,Q16802,Q5VSP8,Q86SU6,Q8TCB1,Q9NRM4 Hs.1645,Hs.567807 GDB:138467 CP4Y|CYP4A2|CYP4AII protein-coding 1603864 CYP4A22 cytochrome P450, family 4, subfamily A, polypeptide 22 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. 12477932,12464262 284541 NM_001010969,AL135960,AY280371,AY280372,BC142607,BC142690,BC148248 NP_001010969,CAI19736,CAI19737,CAI19738,AAQ21367,AAQ21368,AAI42608,AAI42691,AAI48249,Q5TCH3,Q5TCH4,Q6JXK7,Q6JXK8 Hs.567807 protein-coding 736540 CYP4B1 cytochrome P450, family 4, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Two transcript variants encoding slightly different isoforms have been found for this gene. 1300048,1580863,1626420 2574990,16344560,15499177,12837283,12477932,12142726,11767004,11737226,11669629,11062028,10768437,9498238,9493761,9373149,9364212,9202751,8889548,8694864,8313365,8125298,7894498,2298205 1626420 1580 AY151049,BC017758,BM977596,DA380788,J02871,X16699,NM_001099772,NM_000779,AL356793,AL593856,CH471059,DQ518907,AF491285,AK225576,AK225578,AY064484,AY064485,AY064486,AY151048 AAN72311,AAN72312,AAH17758,AAA35712,CAA34672,P13584,Q5SXC1,Q8IZB0,Q8WWF2,Q8WWV1,ABM82936,ABM86125,NP_001093242,NP_000770,EAX06888,EAX06889,EAX06890,EAX06891,ABF47106,AAM09532,AAL57719,AAL57720,AAL57721 Hs.436317 GDB:125372 CYPIVB1|P-450HP cytochrome p450, subfamily 4b, polypeptide 1 protein-coding 1349925 CYP4F11 cytochrome P450, family 4, subfamily F, polypeptide 11 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The specific function of this protein has not been determined. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. 1580863 10964514,18065749,15489334,15057824,14702039,12477932,9068972 57834 NM_021187,AC005336,AC011517,AC020950,CH471106,AF236085,AK125714,AK289424,AL833940,BC016853,BU180723 NP_067010,AAC27731,EAW84511,EAW84512,EAW84513,EAW84514,EAW84515,AAG15889,BAF82113,CAD38795,AAH16853,Q8N3P5,Q9HBI6,ABM82393,ABM85576 Hs.187393 GDB:11501005 protein-coding 1351749 CYP4F12 cytochrome P450, family 4, subfamily F, polypeptide 12 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid; however, its physiological function has not been determined. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. 1580863 18065749,16344560,16303743,16112640,14702039,12975309,12477932,11162645,11162607,9068972,1116264 66002 AC004523,AC122702,CH471106,NM_023944,AB035130,AB035131,AK074412,AK075435,AL832171,AY008841,AY358977,BC034916,BC035350,DB221158 NP_076433,AAC11543,EAW84492,EAW84493,EAW84494,EAW84495,EAW84496,EAW84497,EAW84498,EAW84499,EAW84500,EAW84501,BAB18269,BAB18270,CAI46131,AAG33247,AAQ89336,AAH35350,O60389,Q5JPJ7,Q8IV39,Q9HCS2,ABM81736,ABM84891 Hs.591000 GDB:11509006 F22329_1 protein-coding 1347352 CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. 70707,1580863 8026587,18391101,18250228,18235092,18065749,17341693,17284776,17142457,16733892,15489334,15057824,12736711,12477932,11715494,11162441,10860554,10660572,10492403,9618440,9068972,8424651 70707 8529 NM_001082,AB015306,AC004791,AC005336,AF221943,AF467894,CH471106,BC067438,BC067439,BC067440,D26480,U02388,AK290790,BC067437 NP_001073,BAA75823,AAC27730,AAF86378,AAL67578,EAW84508,EAW84509,AAH67439,AAH67440,BAA05490,AAC50052,P78329,Q6NWT5,EAW84510,BAF83479,AAH67437 Hs.558423 GDB:9955557 CPF2 protein-coding 1606166 CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 16436457,16344560,12477932,10712205 126410 NM_173483,AC011492,CH471106,AI341068,AK096820,BC069351,BC093894,BC093896,DA874258 NP_775754,EAW84484,BAC04868,AAH69351,AAH93894,AAH93896,Q6NT55 Hs.156452 FLJ39501|LI3 protein-coding 1349362 CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. 1580863 8486631,18065749,17980168,16380383,14715252,12709424,11461919,10409674,9539102,9068972,8026587 4051 NM_000896,AB002461,AD000685,AY792513,CH471106,AB002454,AF054821,D12620,D12621 NP_000887,BAA25991,AAV40834,EAW84488,EAW84489,EAW84490,EAW84491,BAA25990,AAC08589,BAA02144,BAA02145,Q08477 Hs.106242 GDB:139142 CPF3|CYP4F|LTB4H protein-coding 1354190 CYP4F3LP cytochrome P450, family 4, subfamily F, polypeptide 3-like pseudogene 10830953 54055 NG_000927,AL109748,AL163204 GDB:10796308 pseudo 1353889 CYP4F8 cytochrome P450, family 4, subfamily F, polypeptide 8 This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. 1580863 16112640,15789615,14702039,12464258,11448449,10791960,9068972,10405341,17353931,16344560 11283 NM_007253,AC093072,AD000685,CH471106,AF133298,AI401776,AK096809,DA871128,DA877298,DB329701 NP_009184,EAW84486,EAW84487,AAD49566,P98187,AAI46323,AAI56577 Hs.268554 GDB:9957646 CPF8|CYPIVF8 protein-coding 1312886 CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. 18349091,17962476,17249554,17013694,16186368,16179904,16088246,15860296,15489334,15042513,14702039,12975309,12477932,11001583 285440 NM_207352,AC110771,CH471056,AA918796,AK022114,AK122600,AK126473,AK311390,AY358619,AY422002,BC035933,BC038095,BC041839,BC048253,BC060857,BX648537,BX648730 NP_997235,EAX04624,BAC85487,BAC86562,AAQ88982,AAR31180,AAH41839,AAH60857,Q49AA5,Q6ZWL3 Hs.237642 BCD|CYP4AH1|FLJ18432|MGC43534 protein-coding 731278 CYP4X1 cytochrome P450, family 4, subfamily X, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. 625536,1580863 15797250,15489334,14702039,12975309,12477932,12176035 625536 260293 NM_178033,AL450996,CH471059,AK091806,AK098065,AK131355,AM040940,AY358537,BC028102 NP_828847,CAH71035,EAX06882,EAX06883,EAX06884,BAC03751,BAC05226,BAD18508,CAJ13826,AAQ88901,AAH28102,Q5VVE5,Q6ZN67,Q8N118,Q8NAZ3,ABM82581,ABM82582,ABM85769,ABW03738 Hs.439760 MGC40051 cytochrome p450 4x1 protein-coding 1354200 CYP4Z1 cytochrome P450, family 4, subfamily Z, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. 1580863 15797250,15059886,12975309,9068972 199974 NM_178134,AL135960,AL450996,CH471059,AK292175,AY262056,AY358631 NP_835235,CAI19734,CAH71036,EAX06880,EAX06881,BAF84864,AAO89257,AAQ88994,Q86W10,AAI40383,AAI46467 Hs.176588 CYP4A20 protein-coding 2293116 CYP4Z2P cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene 15059886,14702039 163720 NR_002788,XR_042146,AL356793,AL731892,AK097373,AY262057,AY696295 BAC05026,AAU10524,Q8N1L4 Hs.591431 FLJ40054 pseudo 1345262 CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. 1580863 16344560,15611056,15489334,14702039,12853948,12690205,12477932,12145339,11678326,8975714,8845856,8809088,8797093,8619637,8024575,12824470 1595 NM_000786,AC000120,CH236949,CH471091,U51684,U51685,U51686,U51687,U51688,U51689,U51690,U51691,U51692,BC018429,BC032322,D55653,DA349400,U23942 NP_000777,AAB46356,EAL24154,EAW76858,EAW76859,AAC50951,AAH18429,AAH32322,BAA09512,AAB39951,Q05D40,Q16850,ABM82237,ABM85421 Hs.417077 CP51|CYP51|CYPL1|LDM|P450-14DM|P450L1 protein-coding 69210 CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. 1580863,1300048 8504159,8439551,8020987,7288293,2384150,1610352,1358792,1312351,18307386,18178499,18078817,17920062,17680536,16937432,16917677,16892178,16763159,16709249,16630139,16115473,15910869,15805302,15796896,15752749,15736936,15707388,15640003,15489334,15333704,15262185,15241483,15205472,15133863,14762172,14592954,14522988,14515446,12865425,12815072,12810154,12721789,12554795,12477932,12213890,12202481,12116231,12093894,12093884,12011083,11907135,11257258,10882719,10359768,9559267 1581 NM_000780,AC009927,CH471068,L04634,L13460,M89647,M89803,BC101777,BC112184,M93133,X56088 NP_000771,EAW86811,AAA61350,AAA58423,AAI01778,AAI12185,AAA58435,CAA39568,P22680 Hs.1644 GDB:132221 CP7A|CYP7|MGC126826|MGC138389 protein-coding 735270 CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. 1580863 10588945,9802883,18252231,18055760,17467270,16630558,15751070,15698543,15181079,15007371,15003524,14521990,12721789,12477932,9559267 9420 NM_004820,AC090136,AC104232,AC104939,AF127089,AF176805,CH471068,AF029403,AF127090,BC029155,BC136574 NP_004811,AAK11850,EAW86877,AAC95426,AAD20021,AAH29155,AAI36575,O75881,Q05C57 Hs.667720 GDB:9956657 CBAS3|CP7B|SPG5A cytochrome p450, subfamily 7b, polypeptide 1 protein-coding 736649 CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. 1300048,1580863 10051404,17585019,16937432,15891895,15489334,15249218,12477932,11535594 1582 NM_004391,AC099329,AF090320,CH471055,AF090318,AK310784,BC067434,BC067441,BC067442,BC067443,BC067444 NP_004382,AAD19877,EAW64682,AAC63037,AAH67434,AAH67441,AAH67442,AAH67444,Q6NWT2,Q6NWT3,Q9UNU6 Hs.447793,Hs.709071 GDB:9848666 CP8B|CYP12|FLJ17826 protein-coding 731720 CYR61 cysteine-rich, angiogenic inducer, 61 CYR61 is a secreted, cysteine-rich, heparin-binding protein encoded by a growth factor-inducible immediate-early gene. Acting as an extracellular, matrix-associated signaling molecule, CYR61 promotes the adhesion of endothelial cells through interaction with integrin and augments growth factor-induced DNA synthesis in the same cell type.[supplied by OMIM] 1580863,734995 9135077,18212329,18089610,18058471,18025257,17765657,17718860,17699553,17673559,17626014,17601910,17437852,17429007,17234971,17056474,16877350,16804865,16675545,16581771,16243794,15878827,15782120,15961723,15592521,15564459,15526358,15489334,15471875,15389821,15077166,15053922,15044605,15044484,15041728,14988385,14702039,12939282,12899698,12831056,12826661,12736251,12477932,12444554,12374462,12364323,12217894,12036876,11840342,11810026,11751417,11600415,11584015,11287419,11120741,10852911,10821835,10446209,9600969,9536281,9528960,9488038,9446626,9373149,8635876,8125298,16189514 734995 3491 AC092807,AF307860,AY443495,CH471097,AF003114,AF003594,AF031385,AK096420,AK223385,AL832891,BC001271,BC009199,BC016952,CR536519,CR593662,CR595937,CR597890,CR603266,CR609236,NM_001554,CR622169,CR623495,CR623693,U62015,Y11307,Y12084,Z50168,Z97068,Z98053 NP_001545,AAG59863,AAR05446,EAW73196,EAW73197,EAW73198,AAF21597,AAB61240,AAB84227,BAD97105,AAH01271,AAH09199,AAH16952,CAG38757,AAB58319,CAA72167,CAA72802,CAB09804,CAB10848,O00622,O95694,Q53FA4,Q6FI18,Q9UID7,ABM82188,ABM85375 Hs.8867 GDB:9835155 CCN1|GIG1|IGFBP10 cysteine rich protein 61 protein-coding 1606435 CYS1 cystin 1 14702039,12733055,11854326 192668 NM_001037160,AC104794,CH471053,AF544983,AK091299 NP_001032237,EAX00971,AAQ11748,Q717R9,AAI48589,AAI56922 Hs.27092,Hs.594993 GDB:11508971 FLJ33980 protein-coding 732524 CYSLTR1 cysteinyl leukotriene receptor 1 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR2. This encoded receptor is a member of the superfamily of G protein-coupled receptors. Activation of this receptor by LTD4 results in contraction and proliferation of smooth muscle, oedema, eosinophil migration and damage to the mucus layer in the lung. 1580863,734996 17549353,17460547,17406065,17392478,17153879,16846449,16809637,16776674,16771777,16630147,16293801,16210619,16123393,15772651,15705869,15696087,15590629,15489334,15064240,14749922,14702039,12859443,12751768,12751740,12743568,12682264,12512030,12477932,12373000,12100046,11696047,11438743,11322876,17558309,10391245,18379861,18366797,18028998,17941281,17924829,17909024,17883728,17641958,11141472,10462554 734996 10800 NM_006639,AL445202,AY242130,CH471104,AF119711,AF133266,AK023929,BC035750,DQ131799,DQ131800,DQ131801,DQ131802,DQ131803 NP_006630,AAO92297,CAI40462,EAW98598,EAW98599,AAD42285,AAD42778,AAH35750,ABA01563,ABA01564,ABA01565,ABA01566,ABA01567,Q38Q88,Q38Q91,Q9Y271,ABM81873,ABW03343 Hs.201300 GDB:9866032 CYSLT1|CYSLT1R|CYSLTR|HG55|HMTMF81|MGC46139 protein-coding 1352313 CYSLTR2 cysteinyl leukotriene receptor 2 The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. 1580863 10913337,18366797,18048362,17991613,17941281,17460547,17404310,16771777,16606835,15970796,15696087,15545522,15489334,15475736,15454733,15057823,14515063,13679572,12816881,12477932,12100046,12044878,11696047,11093801,10851239,1085123 57105 EF141524,EF141525,EF141526,EF141527,EF141528,EF141529,EF141530,NM_020377,AB041644,AB083603,AF254664,AF279611,AL137118,AY389504,CH471075,CS251127,AB038269,AB041947,AK291739,AY853711,BC069160,BC096832,EF141523 ABO61875,ABO61876,ABO61877,ABO61878,ABO61879,ABO61880,ABO61881,Q5KU17,Q9NS75,NP_065110,BAB16379,BAB89316,AAG17281,AAK69485,CAC29102,AAQ91330,EAX08802,CAJ58194,BAB03601,BAD83598,BAF84428,AAW47925,AAH69160,AAH96832,ABO61874 Hs.253706,Hs.614318 GDB:11510025 CYSLT2|CYSLT2R|GPCR|HG57|HPN321|KPG_011|PSEC0146|hGPCR21 protein-coding 1351161 CYTL1 cytokine-like 1 C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM] 737633 10857752,15489334,15340161,12975309,12477932 737633 54360 NM_018659,AC108139,CH471131,AF193766,AF274956,AY359101,BC031391,CR602076,CR620065,T83161 NP_061129,EAW82418,AAF73372,AAK07531,AAQ89459,AAH31391,Q9BZT3,Q9NRR1,ABM81716,ABM81718,ABM84872 Hs.13872 C17|C4orf4 protein-coding 1354035 CYYR1 cysteine/tyrosine-rich 1 1580863 17442112,15489334,14702039,12477932,12062809,12036297,10830953,9373149,8125298 116159 AP001596,AP001597,CH471079,AF401639,AK054581,AK223576,AL833200,AY061853,BC036761,CR612850,NM_052954 NP_443186,EAX09953,EAX09954,AAK84158,BAB70764,BAD97296,CAI46188,AAL35737,AAH36761,Q53ER3,Q5JPD0,Q96J86 Hs.37445 GDB:11508354 C21orf95 protein-coding 1343064 CYorf1 chromosome Y open reading frame 1 9722947 10751 L18173 GDB:9865780 71-7A2 pseudo 1351656 CYorf14 chromosome Y open reading frame 14 12815422 55410 NR_001544,AC009235,AF119903 Hs.138453 GDB:11510702 PRO2834 miscrna 1352919 CYorf15A chromosome Y open reading frame 15A 16344560,16136134,14702039,12815422,12477932 246126 NM_001005852,AC009977,AC010137,CH471202,AF332224,AI129169,AK090535,AK127387,BC110817,BM263181,DA956406 NP_001005852,EAW54666,AAK13476,BAC86953,AAI10818,Q2TAN5,Q6ZSJ5,Q9BZA5 Hs.522863 GDB:11510704 FLJ33216|MGC131732 protein-coding 1350080 CYorf15B chromosome Y open reading frame 15B 12815422,12477932 84663 NM_032576,AC009977,AC010889,CH471202,AF332225,AL832583,BC035312 NP_115965,EAW54665,AAK13477,CAD89940,AAH35312,Q8N4A2,Q9BZA4 Hs.592254 GDB:11510706 protein-coding 1347953 CYorf16 chromosome Y open reading frame 16 12815422 252946 NR_001553,AC006156,AF527835,AK129785 Hs.559065,Hs.638604 GDB:11510708 miscrna 1354363 CZP2 cataract, zonular pulverulent 2 1598 GDB:128382 1606344 D2HGDH D-2-hydroxyglutarate dehydrogenase This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. 16081310,16037974,15815621,15609246,15489334,14702039,12477932,8889548,7609436,15070399,17353931,16442322,16344560 728294 NM_152783,AC114730,CH471063,AF318334,AK027102,AK055846,AK091725,AK094149,AK096060,AK124189,BC031817,BC036604,BC071598,BC073980,CB997999,CK300805,DA927909 NP_689996,AAX82020,EAW71290,AAL55841,BAC85798,AAH31817,AAH36604,AAH71598,Q6ZVR3,Q8N465,Q8WYW4 Hs.535639 D2HGD|FLJ42195|MGC25181 protein-coding 737576 D4S234E DNA segment on chromosome 4 (unique) 234 expressed sequence 9013775,15489334,14702039,12477932,12070131 27065 NM_001040101,NM_014392,AC110814,CH471131,M98528,M98529,M98534,AK094573,AK096645,AK125065,AK125172,BC001745,BC034227,CR590666,CR593990,CR594742,CR597350,CR599638,CR600748,CR604793,CR611413,CR612100,CR615319,CR620564 NP_001035190,NP_055207,EAW82430,EAW82431,EAW82432,AAA60355,AAA60152,AAH01745,AAH34227,P42857 Hs.518595 D4S234|NEEP21|NSG1|P21 brain specific mrna b protein-coding 1346826 DAAM1 dishevelled associated activator of morphogenesis 1 Functions of the cell cortex, including motility, adhesion, and cytokinesis, are mediated by the reorganization of the actin cytoskeleton and recent evidence suggests a role for the Formin homology (FH) proteins in these processes. The protein encoded by this gene contains FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. Wnt/Fz signaling activates the small GTPase Rho, a key regulator of cytoskeleton architecture, to control cell polarity and movement during development. Activation requires Dvl-Rho complex formation, an assembly mediated by this gene product, which is thought to function as a scaffolding protein. Evidence of alternative splicing has been observed for this gene but the full-length nature of these variants has not been determined. 1580863 18218625,18162551,17986009,17482208,17021034,16630611,15489334,14702039,12508121,12477932,11779461,10631086,9734811 23002 NM_014992,AL133502,AL359219,CH471061,AB014566,AK021890,AK093813,AK123651,AK291790,BC024781,BC038428,BC064999,BQ050640,BX247986,CR609221 Q9Y4D1,NP_055807,EAW80747,EAW80748,EAW80749,BAA31641,BAC04230,BAF84479,AAH24781,AAH38428,AAH64999,CAD62320 Hs.654934 GDB:9954679 FLJ41657|KIAA0666 protein-coding 1314563 DAAM2 dishevelled associated activator of morphogenesis 2 1580863 14574404,12632087,12477932,11779461,9205841,1538749 23500 BX647839,M78573,NM_015345,AL136089,AL161439,AL357412,AL590999,AL592158,CH471081,AB002379,AL596701,AL833083,BC014275,BC047555,BC047575,BC078153,BC128388 Q6DCB0,Q86T65,Q86WZ3,NP_056160,CAI20010,CAI23288,CAI16176,EAX03995,EAX03996,BAA20835,CAD89973,AAH47575,AAH78153,AAI28389 Hs.708004 GDB:9785754 KIAA0381|MGC90515|RP1-278E11.1|dJ90A20A.1 protein-coding 1353804 DAB1 disabled homolog 1 (Drosophila) The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. 1358468,1580863 17974915,17548821,17062576,16951405,16481437,15883038,15718228,15175076,15062102,14961563,14702039,14578885,12834112,12646221,12606711,12581169,12477932,12446734,12077184,11812785,11716507,11279201,11137154,10959835,10827173,10460257,10380922,10373567,9837937,9790777,9716537 1358468 1600 NM_021080,AL080278,AL109944,AL137855,AL139219,AL161740,AL354883,AL355004,AL357373,AL359739,AL365367,AL390243,AL391826,AL442223,AL445193,AL627090,AL663085,AY174217,CH471059,AB210012,AF071062,AF263547,AF525763,AK095513,BC067445,BC067446,BC067447,BC112938,CR933698 NP_066566,CAI22360,CAI22361,CAI22362,CAI22364,EAX06637,EAX06638,BAE06094,AAC70068,AAF73058,AAM83107,AAH67445,AAH67446,AAH67447,AAI12939,O75553,Q8NFD0 Hs.477370 GDB:9848665 protein-coding 731451 DAB2 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) DAB2 mRNA is expressed in normal ovarian epithelial cells but is down-regulated or absent from ovarian carcinoma cell lines. The 770-amino acid predicted protein has an overall 83% identity with the mouse p96 protein, a putative mitogen-responsive phosphoprotein; homology is strongest in the amino-terminal end of the protein in a region corresponding to the phosphotyrosine interaction domain. The down-regulation of DAB2 may play an important role in ovarian carcinogenesis. This gene was initially named DOC2 (for Differentially expressed in Ovarian Cancer) and is distinct from the DOC2A and DOC2B genes (for double C2-like domains, alpha and beta). 1580863 17009406,16984970,16964243,16870701,16267015,16061224,15894542,15489334,15302935,15280374,15231748,15134832,14669280,14596919,12881709,12853125,12805222,12606711,12477932,12473651,11967127,15837803,9620555,12857860,18070591,17671122,17115114,11927540,11906161,11812785,11387212,11371563,11247302,11161789,11039902,17081983,10769163,10340382,9569023,8889548,8660969,8314147,16189514,10542228 1601 BU742719,CB989218,CR606825,CR611289,CR620235,L16886,U39050,U53446,NM_001343,AC008846,AC008916,AF205890,CH471119,U41111,AF188298,AK024965,AK130136,BC003064 AAH03064,AAA93195,AAC50824,AAA98975,NP_001334,AAF23161,EAW55989,EAW55990,EAW55991,EAW55992,EAW55993,EAW55994,P98082,ABM82798,ABW03444,AAB19032,AAF05540 Hs.481980 GDB:9862908 DOC-2|DOC2|FLJ26626 protein-coding 732352 DAB2IP DAB2 interacting protein DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor gene and is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM] 632628,1580863 18073375,16964243,16328005,15817459,15386433,15310755,15164053,15041729,14978793,14702039,12813029,12477932,12446720,12168954,11944990,11812785,11214970 632628 153090 NM_032552,NM_138709,AL357936,AL365274,CH471090,AB051530,AF367051,AK054851,AK096391,AK124609,AK124610,AY032952,BC011496,BC037314,BC040911,BC146762,BM546615 NP_115941,NP_619723,CAH72155,CAH72156,CAH72158,CAQ10385,CAQ10386,EAW87501,EAW87502,EAW87503,EAW87504,BAB21834,AAM00371,AAK50336,AAH11496,AAI46763,Q5T4Q1,Q5VWQ7,Q5VWQ8,Q96F94 Hs.522378 GDB:11508356 AF9Q34|AIP1|DIP1/2|FLJ39072|KIAA1743 disabled homolog 2 (drosophila) interacting protein protein-coding 1606339 DACH1 dachshund homolog 1 (Drosophila) This gene is similar to the Drosophila melanogaster dachshund gene, which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. It is a member of the Ski gene family and is thought to be involved in eye development. Four alternatively spliced transcripts encoding different isoforms have been described for this gene. 14525983,16980615,16189514,15818552,15489334,15057823,14702039,14628042,14563999,12477932,12215533,12057194,11950062,11543628,11025202,10502110,10395809,9933575,9651501 1602 NM_004392,NM_080760,NM_080759,AL138698,AL139186,AL163542,AL354995,CH471093,AF069509,AF102546,AF356492,AJ005670,AK001000,AL079278,BC021219,BM476209,BQ440916,BQ938052,BQ951567 NP_004383,NP_542938,NP_542937,EAW80508,EAW80509,EAW80510,EAW80511,EAW80512,AAC33466,AAF01351,AAL08487,CAA06666,CAB45153,AAH21219,Q9UI36,AAI66617 Hs.129452 DACH|FLJ10138 protein-coding 1354112 DACH2 dachshund homolog 2 (Drosophila) 1580863 15459172,14702039,12477932,12438735,11287190 117154 NM_053281,AL023095,AL034406,AL109752,AL138747,AL157381,AL390058,AL591465,CH471104,AF428101,AK055953,AK091842,AK290596,AL834456,BC040213,BC048423,BC114950 NP_444511,EAW98554,EAW98555,EAW98556,AAL26561,BAB71054,BAC03761,BAF83285,CAD39116,AAI14951,Q1RMF5,Q5JYE6,Q5JYE7,Q86XU7,Q96NX9 Hs.86603 GDB:11508358 FLJ31391|MGC138545 protein-coding 1348421 DACT1 dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) 1580863 16446366,15580286,15146197,12632086,12508121,11970895,8889548 51339 NM_016651,NM_001079520,AL133312,CH471061,AF251079,AI803159,AY603415,BK000256,BU742074,BX161433,CN304224,CR610675,DR001289,DR157190 NP_057735,NP_001072988,EAW80742,AAF65569,AAT99436,DAA00310,CAD61905,Q5DM88,Q9NYF0 Hs.48950,Hs.701729 DAPPER|DAPPER1|DPR1|FRODO|HDPR1|THYEX3 dapper homolog 1, antagonist of beta-catenin (xenopus) protein-coding 1321823 DACT2 dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis) 12632086,12477932,10737800 168002 XM_001713778,XM_001713780,XM_001713779,NM_214462,AL606970,CH471051,AF318336,BC092498,BC111764,BC111790,BX329974,BX377941,CR624566,CV427932,DR004351 XP_001713830,XP_001713832,XP_001713831,NP_999627,CAI14850,EAW47467,AAL55843,AAH92498,AAI11765,AAI11791,Q5SW24 Hs.673059,Hs.694414 C6orf116|DAPPER2|DPR2|FLJ31232|MGC133141|MGC133142|RP11-503C24.7|bA503C24.7 dapper homolog 2, antagonist of beta-catenin (xenopus) protein-coding 1601931 DACT3 dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis) 16881060,15489334,12477932 147906 NM_145056,AC093503,CH471126,BC016161,BC034052 NP_659493,EAW57438,EAW57439,EAW57440,AAH16161,Q8N4I1,Q96B18 Hs.515490 MGC15476|RRR1 protein-coding 1350029 DAD1 defender against cell death 1 DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. 15835887,8413235,15489334,15342556,12665801,12477932,10965038,10384128,9373149,9167970,9144178,8125298,7737422,7601483 1603 NM_001344,AL160314,AY259117,CH471078,U84213,AK223129,BC007403,BC009798,BC038575,BP198316,CR407682,CR542204,CR593103,D15057 NP_001335,ABM83794,ABM87116,AAO74827,EAW66252,EAW66253,AAB58540,BAD96849,AAH07403,AAH09798,CAG28610,CAG47001,BAA03650,P61803,Q53G02 Hs.82890 GDB:407505 OST2 protein-coding 1626568 DAD1L defender against cell death 1-like 11912161,10812081 56286 AC026310 DAD-R|DADR protein-coding 1344302 DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) Dystroglycan is a laminin binding component of the dystrophin-glycoprotein complex which provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. Dystroglycan 1 is a candidate gene for the site of the mutation in autosomal recessive muscular dystrophies. The dramatic reduction of dystroglycan 1 in Duchenne muscular dystrophy leads to a loss of linkage between the sarcolemma and extracellular matrix, rendering muscle fibers more susceptible to necrosis. Dystroglycan also functions as dual receptor for agrin and laminin-2 in the Schwann cell membrane. The muscle and nonmuscle isoforms of dystroglycan differ by carbohydrate moieties but not protein sequence. 1580863 9417121,1406935,1741056,8798547,17640712,17516554,17196572,17012237,17005282,16709410,16575202,16466646,16344560,16254364,15175275,12920582,12795607,12598319,12592373,12477932,12386278,12177244,12140558,11798066,11724572,11717465,11502221,11430802,11423118,10932245,10903901,10769203,10767429,10355629,10207021,9851928,9851927,9169421,9153251,8996823,8268918,8205617,7925941,7774920,7744812,7619516,15210115,11342559,10988290 1605 L19711,NM_004393,AC104452,CH471055,AK291692,AW204012,BC012740,BC014616,BF476692,BX402174,CR591955,CR592448,CX871468,DA851197 AAA81779,Q14118,Q969J9,ABM84417,ABM87434,NP_004384,EAW64989,EAW64990,BAF84381,AAH12740,AAH14616 Hs.76111,Hs.707131 GDB:136419 156DAG|A3a|AGRNR|DAG protein-coding 1343376 DAGLA diacylglycerol lipase, alpha 16051747,14610053,12168954,9734811 747 NM_006133,AP002380,CH471076,AB014559,AY275377,BC150176,BC150195,BC152453,BI963857,CR596071 NP_006124,EAW73959,EAW73960,EAW73961,EAW73962,BAA31634,AAQ17119,AAI50177,AAI50196,AAI52454,Q9Y4D2 Hs.241564 GDB:9862825 C11orf11|DAGL(ALPHA)|DAGLALPHA|NSDDR chromosome 11 open reading frame 11 protein-coding 1604501 DAGLB diacylglycerol lipase, beta 16806233,16303743,15489334,14702039,14610053,12690205,12477932 221955 AK074744,AK075128,AK090943,AK091228,AK093958,AK122748,AK127440,BC027603,NM_139179,AC009412,AC072052,CH236963,CH878731,CQ783180,CQ834678,AF450090,AK074210,AK074584 BAC11175,BAC11420,BAC04258,AAH27603,Q8NCG7,NP_631918,EAL23721,EAW55033,EAW55034,EAW55035,EAW55036,EAW55037,CAF86385,CAH05554,AAL47020,BAB85017,BAC11073 Hs.487498 DAGLBETA|FLJ33624|FLJ33909|KCCR13L protein-coding 1607064 DAK dihydroxyacetone kinase 2 homolog (S. cerevisiae) This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4',5'-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been identified, but the full-length nature of only one has been determined. 17600090,16344560,16289032,15771780,15489334,14702039,12477932,9373149,8125298 26007 AP003108,CH471076,AK023915,AK094516,AK223580,AL110260,BC001341,BC120929,BF197629,CR593561,DA932478,DB056724,DQ138290,DQ344550,NM_015533 NP_056348,EAW73938,EAW73939,EAW73940,BAB14722,BAD97300,CAB53701,AAH01341,AAI20930,ABA10576,ABC70184,A0AUP5,Q2L9C1,Q3LXA3,Q9UFX5 Hs.6278 DKFZP586B1621|MGC5621 protein-coding 1352602 DALRD3 DALR anticodon binding domain containing 3 737633 15146197,14702039,12477932 737633 55152 NM_018114,NM_001009996,AC137630,AA553582,AK001358,AK093054,AK093204,AK093294,BC014099,BC032440,BC047683,BC054493,BX648719,CF455269,CN365208 NP_060584,NP_001009996,BAA91647,BAC04037,BAC04095,BAC04123,AAH32440,AAH47683,AAH54493,Q5D0E6 Hs.654815,Hs.708076 FLJ10496 protein-coding 1602897 DAMS SMAD in the antisense orientation 10049768 9597 Q9Y6J3 AF071111,AF086556 AAD20804,Q9Y6J3 Hs.59666 GDB:9957471 protein-coding 1342724 DAND5 DAN domain family, member 5 This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. 15466485,15254711,14702039,14525956,12477932 199699 NM_152654,AC092069,CH471106,AB070695,AK095926,BC025333,BC101800,BC113476 NP_689867,EAW84336,EAW84337,BAC82440,BAC04651,AAH25333,AAI01801,AAI13477,Q8N907,Q8TB04 Hs.331981 CER2|CERL2|CKTSF1B3|COCO|CRL2|DANTE|GREM3|MGC126849|SP1 protein-coding 1350103 DAO D-amino-acid oxidase This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. 1298635,1298636,1580863 1356107,2901986,18165970,17890006,17728673,17629951,17627036,17492767,17408693,17336946,17250995,17179078,17088322,17055463,16828464,16616139,16380905,16344560,15489334,15464270,14966479,12477932,12364586,12053066,11452983,8889548,8195119,8182053,2885296 1298635,1298636 1610 NM_001917,AC087893,CH471054,D11370,BC029057,BC074770,BM932083,BX538210,DA085245 NP_001908,EAW97834,EAW97835,EAW97836,EAW97837,EAW97838,BAA20974,AAH29057,AAH74770,CAD98069,P14920,Q7Z312,ABM81765,ABM84921 Hs.113227 GDB:135365 DAAO|DAMOX|MGC35381|OXDA protein-coding 1349838 DAOA D-amino acid oxidase activator This gene encodes a protein that is an activator of the FAD-dependent enzyme D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder, possibly due to decreased levels of D-serine and decreased NMDA receptor functioning. Alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. 1358627 18466879,18423426,18346999,18198266,18165970,18023149,17880399,17767147,17728673,17651942,17629951,17627036,17492767,17410640,17408693,17336946,17293043,17250995,17179866,17179078,17152404,17143075,17055463,17029202,17006672,16842973,16791105,16603472,16585465,16581030,16554747,16402132,16263850,16183301,16082701,16009449,15738936,15546984,15489334,15477870,15271585,15248869,15194506,15121480,15057823,14966479,14759258,12647258,12477932,12364586,11181995 1358627 267012 NM_172370,AE014312,AL359751,CH471085,AY138546,AY138547,AY170469,AY170470,AY170471,AY223901,BC121090,BC121091,DQ343761,DQ357223,DQ386869,DQ386870 NP_758958,AAN16027,AAN16028,CAH70815,EAX09077,EAX09078,EAX09079,EAX09080,EAX09081,AAN08432,AAN08433,AAO12727,AAO12728,AAO12729,AAO73604,AAI21092,ABC59904,ABC86111,ABD52720,ABD52721,P59103,Q86Y17,Q8IWM2,Q8IWM3,Q8IWM4 Hs.381382 G72|LG72|SG72 protein-coding 737267 DAP death-associated protein This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. 1300389,1302217,1580863 7828849,17081983,16602700,15489334,15342556,12477932,9916995,8530096 1300389,1302217 1611 NM_004394,AC012629,AY266680,CH471102,BC002726,BP265421,BT006925,CR542184,CR593707,CR607145,CR607455,DC395850,X76105 NP_004385,AAO89078,EAX08056,AAH02726,AAP35571,CAG46981,CAA53713,P51397,Q6FGC3,Q7KZT7 Hs.75189 GDB:630383 MGC99796 protein-coding 1313309 DAP3 death associated protein 3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Splice variants that differ in the 5' UTR have been found for this gene; both variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. 7499268,18227431,17613536,16710414,15679048,15302871,15179560,15175341,12706105,12477932,12359235,12099703,11753396,11543634,11402041,11376335,11279123,11248257,11162496,10903152,9373149,9284927,8125298,17353931 7818 NM_004632,NM_033657,AB061210,AL162734,CH471121,AK225869,AK293117,BC002358,BC107487,BC107488,BT019494,CR590516,CR591643,CR592625,CR594396,CR594545,CR607923,CR610352,CR612221,CR614148,CR615460,CR617063,CR617451,CR619968,CR620113,CR622457,CR624311,CR624714,CR749790,U18321,X83544 NP_004623,NP_387506,BAB54960,CAH71647,EAW53043,EAW53044,EAW53045,EAW53046,EAW53047,EAW53048,EAW53049,EAW53050,EAW53051,BAF85806,AAI07488,AAI07489,AAV38301,CAH18651,AAA57443,CAA58535,P51398,Q68CT7 Hs.516746 GDB:1316879 DAP-3|DKFZp686G12159|MGC126058|MGC126059|MRP-S29|MRPS29|bMRP-10 protein-coding 1323186 DAPK1 death-associated protein kinase 1 Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. 1300389,1580863 10629061,7828849,18336955,17953697,17895359,17703233,17690039,17683884,17592394,17540169,17523078,17477876,17324930,17324927,17319784,17244621,17209433,17056602,16951219,16858683,16847012,16344560,16213824,16142356,16085644,15809761,15634757,15492995,15048887,15018706,14767518,14612952,14530257,14504087,12911633,12820391,12792765,12730201,12708480,12477932,12370243,12351649,12082610,12031912,11809677,11579085,11485996,8530096,15729359,15616583 1300389 1612 NM_004938,CR749834,DA887235,EF090258,X76104,AL160279,AL161787,AL591852,CH471089,DQ436495,AA846231,AB208871,AK127855,BC113660,BT006935,CR605555,CR613879,CR626501 CAH18690,ABK78671,CAA53712,P53355,Q14CQ7,Q1W5W0,NP_004929,CAI16306,EAW62725,EAW62726,EAW62727,EAW62728,ABD96827,BAD92108,BAC87163,AAI13661,AAP35581,Q5VTK1,Q6ZRZ3,Q59H88 Hs.380277,Hs.693441 GDB:555932 DAPK|DKFZp781I035 protein-coding 1312311 DAPK2 death-associated protein kinase 2 This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. 10376525,10629061,17347302,17081983,15761153,15489334,12477932,12087472,11980920,11839665,11839660,11230133 23604 NM_014326,AC015914,AC021541,CH471082,AB018001,AF052941,AK026801,BC114506,BC114951 NP_055141,EAW77657,EAW77658,EAW77659,BAA88063,AAC35001,AAI14507,AAI14952,Q1RMF4,Q9UIK4 Hs.237886 GDB:10795302 DRP-1|MGC119312 protein-coding 731385 DAPK3 death-associated protein kinase 3 Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. 1580863,734875 10356987,12917339,17126281,15910542,15546961,15489334,15292222,15001356,14702039,12560483,12477932,12242277,10602480,10580117,9747039,9488481 734875 1613 NM_001348,AC011488,CH471139,CQ782734,AB007144,AB022341,AB265224,AK027590,AK074799,AK093792,AK097643,BC126430,BC126432 O43293,Q05JY4,NP_001339,EAW69276,CAF85967,BAA24955,BAA81746,BAF34614,AAI26431,AAI26433 Hs.631844 GDB:9836805 FLJ36473|ZIP|ZIPK death-associated like kinase protein-coding 1603932 DAPL1 death associated protein-like 1 12477932 92196 NM_001017920,AC079877,CH471058,AF086541,AY324399,BC127682,BC127683 NP_001017920,EAX11424,AAQ93012,AAI27683,AAI27684,A0PJW8 Hs.59761 death-associated protein-like 1 protein-coding 1343956 DAPL1 death associated protein-like 1 353315 1320943 DAPP1 dual adaptor of phosphotyrosine and 3-phosphoinositides 10432293,15494510,15489334,15247305,14563325,12477932,12101241,11781373,11524430,11042152,10983984,10880360,10770799,8889548,11001876 27071 NM_014395,AP001962,CH471057,AF161551,AF163254,AF178987,AF186022,AL713793,BC012924,BM968883,CA428013,DN995752 NP_055210,EAX06108,EAX06109,EAX06110,EAX06111,AAF29038,AAD49697,AAF44351,AAF14578,CAD28547,AAH12924,Q9UN19,ABM84502,ABM85591 Hs.436271,Hs.708484 GDB:11501007 BAM32|DKFZp667E0716 protein-coding 1347611 DARC Duffy blood group, chemokine receptor The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10570183,7689250,18460195,18248572,18230715,18093292,18067501,17955335,17880612,17416748,17382291,17207965,17073738,16710414,16372020,15847654,15783300,15754970,15569072,15489334,15358176,15327416,15214968,13679391,12956774,12739041,12734373,12697152,12477932,12160521,12081195,11813069,11753822,11730271,11446431,9921412,9886340,9746760,9731074,9195930,9058825,8542025,8248172,7833467,7705836,7663520,7592830,2892777 2532 NM_002036,NM_001122951,AF055992,AF100634,AL035403,AY663416,AY663417,AY663418,AY663419,AY663420,AY663421,AY663422,AY663423,AY663424,AY663425,AY663426,AY663427,AY663428,AY663429,AY663430,AY663431,AY663432,AY663433,AY747695,DQ181553,DQ181554,DQ181555,DQ181556,DQ181557,DQ181558,DQ181559,DQ181560,DQ181561,DQ181562,DQ181563,DQ181564,DQ181565,DQ181566,DQ181567,S76830,X85785,AF030521,AK291593,AY167991,BC017817,BC095496,BX537430,CA435450,CD701182,EL735542,U01839 NP_002027,NP_001116423,AAC72301,AAF02415,AAF02416,CAB56228,CAI17895,CAI17896,AAU47275,AAU47276,AAU47278,AAU47279,AAU47281,AAU47282,AAU47284,AAU47285,AAU47287,AAU47288,AAU47290,AAU47291,AAU47293,AAU47294,AAU47296,AAU47297,AAU47299,AAU47300,AAU47302,AAU47303,AAU47305,AAU47306,AAU47308,AAU47309,AAU47311,AAU47312,AAU47314,AAU47315,AAU47317,AAU47318,AAU47320,AAU47321,AAU47323,AAU47324,AAU47326,AAU47327,AAW71991,ABA10403,ABA10404,ABA10406,ABA10407,ABA10409,ABA10410,ABA10412,ABA10413,ABA10415,ABA10416,ABA10418,ABA10419,ABA10421,ABA10422,ABA10424,ABA10425,ABA10427,ABA10428,ABA10430,ABA10431,ABA10433,ABA10434,ABA10436,ABA10437,ABA10439,ABA10440,ABA10442,ABA10443,ABA10445,ABA10446,AAB33239,CAA59770,AAD20435,BAF84282,AAO11657,AAH17817,AAH95496,CAD97672,AAC50055,Q16570,Q3L2S9,Q3LSS9,Q3LST0,Q4VBN9,Q5JY94,Q5Y7A1,Q5Y7A2,Q5Y7A3,Q5Y7A4,Q7Z3T3,Q8IWP5,ABM82892,ABM86081 Hs.153381 GDB:119242 CCBP1|CD234|Dfy|FY|GPD|GpFy|WBCQ1 protein-coding 732389 DARS aspartyl-tRNA synthetase Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA synthetase charges its cognate tRNA with aspartate during protein biosynthesis. 1580863 8449960,17220478,16189514,15779907,15489334,12477932,11829477,10913161,12824064,10200289,9878398,9373149,8125298,7806521,2674137,1651330,14743216 1615 NM_001349,AC011999,AC093391,CH471058,AK129521,AK222476,AK290607,AY762100,BC000629,BC107749,BI753718,BT006710,BU615302,CR598543,CR608647,CR619925,CR749809,J05032 NP_001340,AAY15029,AAY24055,EAX11617,EAX11618,EAX11619,EAX11620,BAD96196,BAF83296,AAX07827,AAH00629,AAI07750,AAP35356,CAH18669,AAA35567,P14868,Q53R85,Q53T60,Q68CR9,ABM81667,ABM84838 Hs.503787 GDB:9622412 DKFZp781B11202|MGC111579 protein-coding 1605663 DARS2 aspartyl-tRNA synthetase 2, mitochondrial 17384640,16710414,15779907,15489334,14702039,12477932 55157 NM_018122,AL109921,CH471067,AK001376,AK022754,AK290873,AL833633,BC045173 NP_060592,CAI20380,EAW90960,EAW90961,EAW90962,BAA91658,BAB14228,BAF83562,AAH45173,Q6PI48,Q9H9M6,Q9NVT8 Hs.647707 ASPRS|ASPRS. LBSL|FLJ10514|LBSL|MT-ASPRS|RP3-383J4.2 protein-coding 1345950 DAXX death-associated protein 6 1580863 16524876,16475184,16455055,16331268,16088932,15919932,15861194,15795247,15637079,15489334,15339933,15302935,15258908,15240113,15128734,15033475,14990586,14978102,14678985,14637155,14574404,14557665,14517282,12968034,12954772,12953102,12917339,12595526,12529400,12482984,12482920,12477932,12150977,12140263,12097584,12033769,11948183,11842083,11799127,11773067,11716541,11495919,11483955,11244500,11193028,11112409,11034606,11003656,10684855,10669754,10525530,10444590,10393185,9743501,9645950,9545376,9521053,9407001,9373149,8125298,14499622,15572661,10698492,9215629,18200667,18003619,17947514,17942542,17938171,17707345,17661348,17596307,17471023,17389020,17362989,17289031,17081986,17081983,17035242,16818774,16810318,16731959,16679534,16569639,11907324 1616 NM_001350,AL662820,AL662827,BX248088,CH471081,CR759786,CR759817,AB015051,AF006041,AF015956,AF039136,AF050179,AF097742,AK223404,AK292187,BC000220,BC073776,BC109073,BC109074,CR457085,AB209493 NP_001341,CAI18124,CAI18125,CAI95539,CAI17527,CAI17528,CAI41788,CAI95544,CAI95545,EAX03722,EAX03723,EAX03724,CAQ08265,CAQ08035,BAA34295,AAB63043,AAB66585,AAB92671,AAC39853,AAC72843,BAD97124,BAF84876,AAH00220,AAI09074,AAI09075,CAG33366,Q4VX54,Q4VX55,Q4VX56,Q4VX57,Q53F85,Q59FG7,Q5STK8,Q5STK9,Q5STR5,Q9UER7,BAD92730,ABZ92478 Hs.336916 GDB:9837233 BING2|DAP6|MGC126245|MGC126246 protein-coding 1349512 DAZ1 deleted in azoospermia 1 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. 16580401,16491269,16275261,16085382,16078663,16021857,15571102,15476166,15253135,15081113,15066460,15066457,12801575,12752250,12511597,12477932,12039700,11883873,11870237,11869379,11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9700189,9321470,8981970,8968756,8896558,8845845,8661148,7670487,12815422,16001084,18326516,17453684,17412880,16963411,16848763,16805138,16777954,16674553 1617 NM_004081,NG_004755,AC010088,AC053490,AF271088,BC114927,U66077,AF271087 NP_004072,AAF91406,AAI14928,Q1RMF9,Q9NQZ3,AAF91405 Hs.70936,Hs.522868 GDB:635890 DAZ|SPGY protein-coding 1347546 DAZ2 deleted in azoospermia 2 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. 7670487,8896558,16963411,16674553,16580401,16491269,15066460,15066457,12815422,12801575,12752250,12511597,12477932,12039700,11883873,11870237,11869379,11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9700189,9557839,9321470,8968756 57055 NM_001005785,NM_020363,NG_004755,AC006983,AC007039,AC053490,AF248480,AF414184,BC113006,U21663,NM_001005786 NP_001005786,NP_001005785,NP_065096,AAF91329,AAL24502,AAI13007,AAB02393,Q13117,Q2KHN6 Hs.592257 GDB:11501009 MGC126442|pDP1678 protein-coding 1344002 DAZ3 deleted in azoospermia 3 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. 1580863 16963411,15066460,15066457,14639527,12815422,12801575,12752250,12511597,12477932,12039700,11883873,11869379,11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9700189,9321470,8968756,8896558,8845845,8661148,7670487 57054 NM_020364,NG_004755,AC010089,AF248481,BC036648,BC113005 NP_065097,AAF91330,AAI13006,Q2KHN7,Q9NR90 Hs.70936,Hs.592257 GDB:11501011 MGC126441|pDP1679 protein-coding 1354496 DAZ4 deleted in azoospermia 4 This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. 11694340,11688365,11390979,11095434,11058556,10936047,10903443,10857750,9847074,9700189,9321470,8968756,8896558,7670487,16963411,15489334,15066460,15066457,14639527,12815422,12801575,12752250,12511597,12477932,12039700,11883873,11870237,11869379 57135 NM_020420,NM_001005375,XM_001718583,NG_004755,AC006338,AC006982,AC010089,AF414183,AY466627,AY466628,AY466629,AY466630,AY547293,AY571147,AF248482,AF248483,AL833003,BC047480,BC047617 NP_065153,NP_001005375,XP_001718635,AAL24501,AAR31726,AAR31727,AAR31728,AAR31729,AAS55959,AAS78586,AAF91331,AAF91332,CAH56318,AAH47480,AAH47617,Q658T2,Q6PY97,Q6S4N0,Q86SG3,Q96P42 Hs.70936 GDB:11501013 DAZ|DAZ1|pDP1680|pDP1681 protein-coding 1313216 DAZAP1 DAZ associated protein 1 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. 1580863 10857750,16848763,16209998,15744350,15489334,14702039,12477932,12185095,11604102 26528 BC012062,BI909277,CR601549,CR608914,CR619052,CR626076,NM_170711,NM_018959,AC005329,AC027307,AY681494,CH471139,AF181719,AK056850,AK092894,AK124583,AK125032,AL360261 AAH12062,Q5IRM7,Q96EP5,ABZ92479,NP_733829,NP_061832,AAW01463,EAW69501,EAW69502,EAW69503,EAW69504,AAF78364,BAB71295 Hs.222510 GDB:10795425 MGC19907 protein-coding 1316588 DAZAP2 DAZ associated protein 2 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region and is deleted in many azoospermic and severely oligospermic men. It is thought that the Y chromosomal DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. 1580863 16713569,17935665,16189514,15629043,15489334,15231748,14702039,14530442,12477932,11342538,10857750,7584044 9802 CR590843,CR594491,CR595995,CR598969,CR599409,CR602531,CR607711,CR609119,CR612770,CR614908,D31767,NM_014764,AC139768,CH471111,AK095963,AK125855,AK290119,AY430097,BC002334,BC007900,BX647278 BAA06545,Q15038,NP_055579,EAW58181,EAW58182,BAF82808,AAR11454,AAH02334,AAH07900 Hs.369761 GDB:9784491 KIAA0058|MGC14319|MGC766 protein-coding 1352695 DAZL deleted in azoospermia-like The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. 1580863 8968755,16001084,9288969,18178196,18088417,18062861,17918711,16884537,16730721,16573709,16328470,16123080,15879466,15607425,15595957,15520024,15489334,15220464,15066460,12511597,12477932,12414900,12200456,12029071,11956819,11872225,11675467,11499325,11390979,11058556,10903443,10857750,10819768,10819456,10775651,10689024,10527983,10393944,10340994,9700189,9294855,9143498,8968756,8896558 1618 NM_001351,AC010139,CH471055,U77467,U77476,BC027595,BX648638,U65918,U66078,U66726 NP_001342,EAW64278,EAW64279,AAB84361,AAH27595,CAI45996,AAC50813,AAB63596,AAB39935,Q5HYB4,Q92904,ABW03677 Hs.131179 GDB:5885884 DAZH|DAZL1|DAZLA|MGC26406|SPGYLA protein-coding 1352710 DBC1 deleted in bladder cancer 1 This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. 1580863 12442002,14712213,11420708,16369496,15746151,15643521,15489334,15164053,12477932,10469456,10444335,9545632,9175739,7757816,16189514 1620 NM_014618,AC006239,AL138894,AL353773,CH471090,AF027734,BC021560,BC065196,BC071702,Z41452 NP_055433,EAW87455,EAW87456,AAC39691,AAH21560,AAH65196,AAH71702,O60477 Hs.532316 GDB:3929539 DBCCR1|FAM5A protein-coding 1605697 DBF4 DBF4 homolog (S. cerevisiae) 10373557,15231747,12791985,10846177,15226314,15707391,17768177,17276990,16899510,16826239,15489334,15374998,15302935,14702039,12853948,12614612,12535533,12477932,12420215,12015319,10523313,10517317,16189514,12441400 10926 NM_006716,AC003083,AC005164,CH236949,CH471091,AB028070,AB028069,AF160249,AF160876,AK022969,AK292569,BC014909,BC022811,BC035632,BC036045,BC047693,CR606603 NP_006707,AAS07442,AAS07418,EAL24170,EAW76930,EAW76931,EAW76932,BAA78326,BAA78327,AAD41911,AAD45357,BAF85258,AAH36045,AAH47693,Q9UBU7 Hs.485380 ASK|CHIF|DBF4A|ZDBF1 protein-coding 1604789 DBF4B DBF4 homolog B (S. cerevisiae) This gene encodes a regulator of the CDC7-like 1 protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and its expression is cell cycle-regulated. Alternative splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full length sequences have not been determined. 16189514,15668232,14702039,12477932,12065429,15782160 80174 NM_145663,NM_025104,AC005180,AC091152,CH471178,AF448801,AF465820,AK023149,AK125771,BC016158,BC026999,BC033660 NP_663696,NP_079380,EAW51581,EAW51582,EAW51583,EAW51584,EAW51585,EAW51586,EAW51587,AAM73808,AAL75985,BAB14431,AAH16158,Q8NFT6 Hs.369998 ASKL1|DRF1|FLJ13087|MGC15009|ZDBF1B|chifb protein-coding 736659 DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase) The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. 1625572,1625569,1625571,1358584,1358583,1580863 2880016,3443096,14718574,18486967,18404133,18330705,18275850,18270970,18207134,18173840,18172755,18081028,18032384,18030083,17853400,17728669,17625104,17503507,17503472,17457369,17200925,17187001,17171650,17157269,17131588,17095019,16876143,16831359,16741944,16616989,16616730,16389711,16335952,16272956,16252068,16152569,16133787,16097364,16032443,15767706,15505174,15489334,15205702,15167700,15164053,15102340,15077009,15028279,14991826,12960750,12833405,12778453,12730829,12707943,12660802,12624717,12555232,12488060,12477932,12360111,11943777,11904130,11904129,11857564,11170900,11140838,10887204,10686491,10490716,10391210,10391209,10075201,9763470,9688506,8546710,7918370,7759508,3972830,3180847,2922261,16189514 1625572,1625569,1625571,1358584,1358583 1621 NM_000787,AC000404,AC001227,AL365494,CH471090,X13257,X13258,X13259,X13260,X13261,X13262,X13263,X13264,X13266,X13267,X13268,X14357,BC017174,CD014125,CR596213,X13255,X13256,Y00096 NP_000778,CAI13353,CAI13354,EAW88099,AAH17174,CAA31631,CAA31632,CAA68285,P09172,ABM84556,ABW03484 Hs.591890 GDB:119836 DBM dopamine beta hydroxylase protein-coding 736302 DBI diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. 1580863 3020548,17266179,17262885,17044054,16908521,16904689,16344560,16055366,16042405,15815621,15489334,15342556,14755437,14602800,12665801,12477932,12396232,12015306,10737800,9657356,9477145,9022045,8964506,8634149,8396705,8245508,8043504,7794798,7789980,7626442,7534063,7527352,3525533,3413112,2881742,1469708,1440058 1622 NM_001079862,NM_020548,NM_001079863,AC016736,CH471103,L76366,AA096224,AM000001,BC006466,BC062996,BF801230,BP294452,BP318721,BU599304,CR456956,DA226476,M14200,M15887 NP_001073331,NP_065438,NP_001073332,AAY14873,EAW95214,EAW95215,EAW95216,CAJ00736,AAH62996,CAG33237,AAA52171,AAA35788,P07108,Q4VWZ6,Q9UCI8 Hs.78888 GDB:119837 ACBD1|ACBP|CCK-RP|EP|MGC70414 diazepam binding inhibitor protein-coding 1350044 DBIL1 diazepam binding inhibitor-like 1 1623 NG_003024,AC008434 GDB:127912 pseudo 1347265 DBIL2 diazepam binding inhibitor-like 2 (pseudogene) 7789980,2185430 1624 NG_001112,AL078601,L27274 GDB:127913 DBIP1 pseudo 1344043 DBIL3 diazepam binding inhibitor-like 3 1625 GDB:127914 1353371 DBIL4 diazepam binding inhibitor-like 4 2185430 1626 GDB:127915 732725 DBN1 drebrin 1 The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. 1580863 12761245,12009525,17081983,16780834,16381901,16344560,16094384,15489336,15489334,15345747,15302935,14702039,14506234,12676529,12665801,12477932,11578820,11256614,11230166,11076863,10604653,10585290,9473484,9373149,8838578,8216329,8125298,7608104,16189514,14743216 1627 BC007281,BC007567,BC114553,BF205663,D17530,DA245346,DR158741,U00802,NM_004395,NM_080881,AC145098,CH471195,AI683844,AK094125,AK225523,AL110225,AW950551,BC000283 AAH00283,AAH07281,AAH07567,BAA04480,AAA16256,Q16643,CAL38314,NP_004386,NP_543157,EAW84989,EAW84990,EAW84991,EAW84992,EAW84993,CAB53683 Hs.130316 GDB:215633 D0S117E|DKFZp434D064 protein-coding 1604304 DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 16341674,14702039,12477932 79007 NM_001042610,NM_024043,AC092143,AC133919,CH471184,AK022644,AK090696,AK090965,AK096507,AL713678,BC000700,BM747302,CR594535 NP_001036075,NP_076948,EAW66663,EAW66664,EAW66665,EAW66666,BAB14152,CAH10640,AAH00700,Q9H9R9 Hs.301394 FLJ12582|MGC3101 protein-coding 1313063 DBNDD2 dysbindin (dystrobrevin binding protein 1) domain containing 2 16618118,16381901,16341674,16305340,16303743,16189514,15489336,15489334,15342556,14702039,12477932,11780052,11076863,10931946 55861 NM_001048221,NM_001048224,NM_001048223,CR595212,CR600511,CR604473,CR610357,CR618022,CR618346,CR622797,CR625786,DT216122,NM_001048226,NM_001048225,AL021578,CH471077,NM_001048222,AF220191,AJ276469,AK000531,AL591565,AY113697,BC001105,BC012818,BG703352,BM767886,BP308674,BP330715 NP_001041687,NP_001041686,NP_001041689,Q0JSF7,Q331S6,Q5QPV4,Q5QPV6,Q9BQY9,CAL38004,CAL38274,CAL38557,NP_001041688,NP_001041691,NP_001041690,CAC18108,CAC18109,CAI21085,EAW75848,EAW75849,EAW75850,EAW75851,EAW75852,EAW75853,EAW75854,EAW75855,EAW75856,AAF67656,CAB83042,BAA91235,CAC39141,AAM77463,AAH01105,AAH12818 Hs.655055 GDB:11504977 C20orf35|CK1BP|HSMNP1 protein-coding 737161 DBNL drebrin-like 11225 1606301 DBNL drebrin-like 10567356,17353931,17306257,17081983,16964243,16189514,16094384,16055701,15637062,15592455,15498874,15489334,15144186,14729663,14702039,14557276,12913069,12690205,12565838,12477932,11689006,11595038,10087302,9891087,9858486 28988 NM_014063,CR597853,CR599020,CR606615,CR614209,NM_001014436,AC017116,CH236960,CH471128,AB209486,AF077353,AF151364,AF197060,AF218020,AF250287,AK027367,AK126142,BC011677,BC023589,BC031687,CR457167,CR593669,CR615718,CR626558 NP_054782,NP_001014436,EAL23770,EAW61129,EAW61130,EAW61131,EAW61132,BAD92723,AAF80228,AAG13120,AAF13701,AAG17262,AAF81273,BAB55065,AAH11677,AAH31687,CAG33448,Q59FH4,Q9UJU6 Hs.436500 GDB:9957460 ABP1|HIP-55|SH3P7 protein-coding 733159 DBP D site of albumin promoter (albumin D-box) binding protein DBP is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family (Khatib et al., 1994 [PubMed 7835883]).[supplied by OMIM] 1625350,1580863 8786133,18228528,18038108,18035050,17342072,17213182,16868893,16637263,16528748,15820770,15489334,12968673,12805554,12477932,12062854,12044990,11230793,10708517,10650888,10508692,10364202,10073576,9110174,8903733,8619474,8499951,8482542,7958972,7835883,1535333 1625350 1628 CR606822,CR614226,CR616380,NM_001352,AC008888,AC022154,CH471177,EF015902,U48213,AB208807,BC011965,BT006836,CA425431,CR590812,CR604569,CR621936,CR626309,D28468,DT217864,U06936,U79283 NP_001343,EAW52372,EAW52373,EAW52374,EAW52375,ABM64213,AAB18668,BAD92044,AAH11965,AAP35482,BAA05833,AAA81374,AAB50219,Q10586,Q59HF2 Hs.414480,Hs.528006 GDB:128840 DABP d site albumin promoter binding protein protein-coding 1351191 DBPHT1 DNA binding protein with his-thr domain 1 387125 1353877 DBPHT2 DNA binding protein with his-thr domain 2 387124 1323625 DBR1 debranching enzyme homolog 1 (S. cerevisiae) The RNA lariat debranching enzyme, or DBR1, specifically hydrolyzes 2-prime-to-5-prime branched phosphodiester bonds at the branch point of excised lariat intron RNA and converts them into linear molecules.[supplied by OMIM] 1580863 10982890,17081983,16232320,15489334,14702039,12477932,11886864,2435736,1850323 51163 NM_016216,AC023049,AC068777,CH471052,AF180919,AK000116,AK094147,BC009472,BM150284,CR626522 NP_057300,EAW79083,AAD53327,BAA90954,AAH09472,Q9UK59,ABM86346,ABW03783 Hs.477700 GDB:11500722 protein-coding 68592 DBT dihydrolipoamide branched chain transacylase E2 The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 734877,1580863 11839747,11509994,11448970,9621512,8430702,7918575,7672509,6895847,3245861,3189339,2932110,2837277,2742576,2708389,2010537,2001734,1990841,1943690,1889817,1847055,1420314,17353931,1377677,1429740,17922217,16861235,16344560,15489334,14768949,12477932 734877 1629 AL445928,NM_001918,CH471097,X57676,X68104,AK024946,BC016675,BC030002,BT007372,DA274670,J03208,M19301,M27093,X57677,X66785 CAH72257,CAH72258,NP_001909,EAW72963,CAA48225,AAH16675,AAP36036,AAA35589,AAA59200,AAA64512,CAA47285,P11182,Q5VVL7,Q5VVL8 Hs.633217 GDB:118784 BCATE2|E2|E2B|MGC9061 protein-coding 1605302 DBX1 developing brain homeobox 1 11239429 120237 NM_001029865,AC068860,CH471064 NP_001025036,EAW68342,A6NMT0,AAI56155 Hs.558604 protein-coding 1605171 DBX2 developing brain homeobox 2 11239429 440097 NM_001004329,AC008127,AC079033,AC089986,CH471111,AK131230 NP_001004329,EAW57876,EAW57877,BAD18413,Q6ZNG2,AAI48396 Hs.302764 FLJ16139 protein-coding 1607011 DC2 DC2 protein 15835887,12477932 58505 NM_021227,AC107071,AX013128,CH471057,AF068297,AF161425,AF201937,AF343342,AW081061,BC016321,BC054857,BM471860,BM541430,BM546028,BM994257,BQ435510,CD369095,CR593408,CR596779,CR597339,CR604503,CR612146,CR618694,CR621571 NP_067050,EAX06233,EAX06234,AAF65186,AAF28985,AAF86873,AAK69656,AAH16321,AAH54857,Q9NRP0,ABM84148,ABM87550 Hs.445803 protein-coding 1602678 DCAKD dephospho-CoA kinase domain containing 12477932 79877 NM_024819,AC015936,AC116493,CH471178,AK026608,AK290755,BC006472,BC006546,BC018132,BC033299 NP_079095,EAW51558,EAW51559,EAW51560,EAW51561,EAW51562,BAB15508,BAF83444,AAH06472,AAH06546,AAH18132,AAH33299,Q8WVC6 Hs.463148 FLJ22955 protein-coding 1353460 DCBLD1 discoidin, CUB and LCCL domain containing 1 15489334,14702039,14574404,12477932 285761 Z85999,AJ420528,AJ420597,AK055462,AK095973,NM_173674,AL132671,CH471051,AK098194,BC035671,CR749448 EAW48206,EAW48207,CAI43170,CAI43171,BAB70926,NP_775945,BAC04663,BAC05258,AAH35671,CAH18285,Q5TDB6,Q68DD5,Q8N8Z6 Hs.658304 DKFZp686L21135|MGC46341|dJ94G16.1 protein-coding 1346250 DCBLD2 discoidin, CUB and LCCL domain containing 2 632753,737633 11447234,18314483,17697260,17570516,15951569,15489334,14702039,12477932,11973641,10673047 632753,737633 131566 NM_080927,AC026303,AC106728,CH471052,AB073146,AF104313,AF387547,AK001362,AK056350,BC007117,BC016815,BC029658,BX647140,D29810 NP_563615,EAW79845,EAW79846,EAW79847,BAB91138,AAL30178,AAH07117,AAH29658,BAA18909,Q14089,Q96IX0,Q96PD2,ABM85923 Hs.203691 CLCP1|ESDN protein-coding 731288 DCC deleted in colorectal carcinoma 734879,734878,1580863 14571268,12901294,12901278,12810718,12787729,12509857,12477932,12432238,12149262,12060632,11986622,11817894,11527412,11518545,11248093,11048721,10719364,9950216,9858595,9334332,8834768,8188295,8187090,8109990,8044801,7926722,7674088,7587124,2294591,1991322,15494733,12864730,12011067,8861902,9796814,18302152,18054557,17553164,17018594,16971669,16762451,16715837,16537496,16122883,15811950,15722793,15646429,15574733,15573119,15523694,15491747,14631365,15494732 734879,734878 1630 AC011155,AC019239,AC021486,AC027248,AC078999,AC090660,AC100777,AC103949,AC110591,AC116002,CH471096,M32286,M32288,M32290,M63696,M63698,M63700,M63702,M63718,S73204,AW949550,BC036524,M32292,X76132,NM_005215 NP_005206,EAW62991,EAW62992,EAW62993,EAW62994,AAA52174,AAA52175,AAA52176,AAA52177,AAA52181,AAA52178,AAA52179,AAA52180,AAB31484,AAH36524,AAA35751,CAA53735,P43146,Q16218,Q49AK4,AAI52809 Hs.579550 GDB:119838 CRC18|CRCR1 protein-coding 1349389 DCD dermcidin This gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. 1580863 17353931,17373842,9736629,18058718,17626247,17448443,16685272,16354654,16142329,15944307,15670776,15489334,15355918,15342556,15340161,12953101,12477932,12429208,11694882,10833321,9139670,8602222 117159 NM_053283,AC079310,AF418981,AY044239,CH471054,AF144011,AY590150,BC062682,BC069108,BP313072,EF503687,EF503688,EF503689 NP_444513,AAL25801,AAK94785,EAW96794,AAL18349,AAS99907,AAH62682,AAH69108,ABQ53649,ABQ53650,ABQ53651,P81605,Q53YJ2 Hs.350570 GDB:11504493 AIDD|DCD-1|DSEP|HCAP|MGC71930|PIF protein-coding 1351849 DCDC1 doublecortin domain containing 1 1580863 12820024 341019 NM_181807,AL137804,AL162614,CH471064,AA954541,AY247970,BX097338 NP_861523,CAO03548,CAO03494,EAW68248,AAP75563,P59894,AAI60093 Hs.127405,Hs.592000 protein-coding 1321007 DCDC2 doublecortin domain containing 2 This gene encodes a protein with two doublecortin peptide domains. This domain has been demonstrated to bind tubulin and enhance microtubule polymerization. Mutations in this gene have been associated with Reading Disability (RD), also referred to as developmental dyslexia. 1580863 10601354,16278297,17450541,17033633,16385449,15489334,14574404,12477932,12168954,10574461 51473 NM_016356,AF181720,AL359389,AL359713,AL591344,AB032980,AF181721,AK027036,AL133043,BC050704,BF109922,BM923267,CR611697 NP_057440,AAF23610,CAH73546,CAI17104,CAI17105,CAH71788,CAH71789,BAA86468,AAF23612,CAB61371,AAH50704,Q5T3Y5,Q9UHG0 Hs.659324,Hs.660365 DCDC2A|RU2|RU2S protein-coding 1604739 DCDC2B doublecortin domain containing 2B 12477932 149069 NM_001099434,AL049795,BC041458,BC128073,BM980133 NP_001092904,AAI28074,A2VCK2 Hs.424588 protein-coding 1603545 DCDC5 doublecortin domain containing 5 16869982,10819331 196296 NM_198462,AL133296,AL133349,AL133376,AL135932,AL137160,AB040926,AK128035,AW340116,BX116244,BX117620,BX647348,DB528022 NP_940864,BAA96017,BAC87240,Q6ZRR9,Q6ZU04,Q9P235,AAI56060,AAI56943 Hs.530438 FLJ46154|KIAA1493 protein-coding 1352461 DCE desmosterol-to-cholesterol enzyme 1631 GDB:119089 1349063 DCHS1 dachsous 1 (Drosophila) This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. 1580863 9199196,14702039,11597768 8642 AL831828,BC038382,NM_003737,AC091564,CH471064,AB000895,AB053446,AK021852 CAD38541,Q8NDT9,Q96JQ0,Q9HAD6,NP_003728,EAW68683,BAA21133,BAB61903,BAB13913 Hs.199850 CDH25|FIB1|FLJ11790|KIAA1773|PCDH16 protein-coding 1603301 DCHS2 dachsous 2 (Drosophila) 15003449,14702039,9373149,8125298 54798 NM_017639,AC079298,AC110608,AC110775,CH471056,AF169691,AK000054,AK095103,AK127704,AK225200,AY354497,AY354498,BX647835 NP_060109,AAY41019,EAX04942,EAX04943,EAX04944,EAX04945,EAX04946,EAX04947,AAF89688,BAA90911,BAC87093,AAR10443,AAR10444,Q4W5P9,Q6V1P8,Q6V1P9,Q6ZS61,Q9NRU0,Q9NXU8 Hs.655664 CDH27|CDHJ|FLJ20047|PCDH23|PCDHJ protein-coding 1352961 DCI dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase) This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. 1580863 15489334,15351645,12477932,12107413,8198519,7829074 1632 NM_001919,AC009065,CH471112,Z25821,Z25822,Z25823,Z25824,AK291127,BC000762,BC002746,BC009631,BC019316,BC020228,CD675473,CR600516,CR625405,L24774,Z25820 NP_001910,EAW85523,EAW85524,EAW85525,CAA81066,BAF83816,AAH00762,AAH02746,AAH09631,AAH19316,AAH20228,AAA35485,CAA81065,P42126,Q96DC0 Hs.403436 GDB:291240 protein-coding 1344747 DCK deoxycytidine kinase Deoxycytidine kinase (DCK) is required for the phosphorylation of several deoxyribonucleosides and their nucleoside analogs. Deficiency of DCK is associated with resistance to antiviral and anticancer chemotherapeutic agents. Conversely, increased deoxycytidine kinase activity is associated with increased activation of these compounds to cytotoxic nucleoside triphosphate derivatives. DCK is clinically important because of its relationship to drug resistance and sensitivity. 1580863 1996353,2542307,18258203,17855478,17602053,17065091,17065085,17065080,17065079,17065053,16969512,16799820,16401075,16361699,15978330,15571259,15571258,15571257,15571255,15564883,15561147,8421671,8406512,7718326,7494863,6317685,6315069,2013338,14514691,12628850,12535661,12477932,11952160,11830489,11687801,9804782,9342341 1633 NM_000788,AC093851,CH471057,L07485,BC103764,BC114617,BT019941,BT019942,CR536527,CR541876,M60527 NP_000779,EAX05637,AAI03765,AAI14618,AAV38744,AAV38745,CAG38764,CAG46674,AAA35752,P27707 Hs.709 GDB:126810 MGC117410|MGC138632 protein-coding 68655 DCLK1 doublecortin-like kinase 1 DCAMKL1 is a microtubule-associated protein that phosphorylates itself and myelin basic protein (MBP; MIM 159430). DCAMKL1 has microtubule polymerizing activity that is independent of its protein kinase activity (Lin et al., 2000 [PubMed 11124993]).[supplied by OMIM] 1580863 14613930,10036192,10051403,9747029,15345747,12692530,12595708,11884394,11124993,9205841,9110174,8619474 9201 NM_004734,AL157694,AL157760,AL160392,AL390029,CH471075,AB002367,AF052152,AF070534,BC152456,BI824620,BQ711413,CR618189,CR627093 NP_004725,CAH70167,CAH70168,CAH70169,CAH70170,CAH70261,CAH70262,CAH70263,EAX08550,EAX08551,BAA20824,AAI52457,O15075,Q5VZY8,Q5VZY9,Q5VZZ0,Q5VZZ1 Hs.507755,Hs.593611 GDB:9785718 DCAMKL1|DCDC3A|DCLK|KIAA0369 double cortin and calcium/calmodulin-dependent protein kinase-like 1 protein-coding 1348460 DCLK2 doublecortin-like kinase 2 737633 16344560,15611072,15489334,12477932 737633 166614 NM_001040260,NM_001040261,AC093748,AC105343,AC108934,AC118064,CH471056,AB209181,AL834498,BC019831,BC032726,DA201927 NP_001035350,NP_001035351,AAY40983,EAX05001,EAX05002,EAX05003,BAD92418,CAD39156,Q4W5L5,Q8N568,ABM81818,ABM84270,ABM87664 Hs.591683 DCAMKL2|DCDC3|DCDC3B|DCK2|DKFZp761I032|MGC45428 doublecortin and cam kinase-like 2 protein-coding 1352758 DCLK3 doublecortin-like kinase 3 1580863 16869982,16344560,14702039,11214970 85443 AC105749,AB051552,AK122988,DB075681,DR000236,NM_033403 NP_208382,BAB21856,Q9C098 Hs.631907 DCAMKL3|DCDC3C|KIAA1765 doublecortin and cam kinase-like 3 protein-coding 1314610 DCLRE1A DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae) DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1A is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM] 18006388,17804464,15572677,15542852,15489334,15164054,12509242,12477932,12446782,10848582,9806498,7788527 9937 NM_014881,AL592546,AY607842,CH471066,BC013124,BC062582,D42045 NP_055696,CAI12637,AAT09762,EAW49489,EAW49490,AAH13124,AAH62582,BAA07646,Q09LL8,Q6PJP8 Hs.1560 GDB:9784618 KIAA0086|PSO2|SNM1|SNM1A protein-coding 1321192 DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM] 1580863 16730175,16710414,16606622,15572677,15489334,15467758,14702039,12477932,10848582,16730176 64858 NM_022836,AL137856,AY849379,CH471122,AF306690,AF306691,AF306692,AF306693,AK022872,AK024060,BC011950,BC029687,CR591475,CR936679 NP_073747,CAI19076,AAV97812,EAW56582,EAW56583,BAB14284,BAB14807,AAH29687,Q9H816 Hs.591412 GDB:11505864 APOLLO|DKFZp686C24187|FLJ12810|FLJ13998|SNM1B protein-coding 1348428 DCLRE1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins when complexed with protein kinase, DNA-activated, catalytic polypeptide. Mutations in this gene cause Athabascan-type severe combined immunodeficiency (SCIDA). 1580863,1601049 12406895,12177301,12055248,11955432,11336668,11181991,9443881,7566098,18270339,18034425,17932067,17242184,17169382,17121861,16874298,16857680,16600297,16093244,15936993,15811628,15731174,15723659,15574327,15574326,15489334,15468306,15456891,15164054,15071507,14744996,14726805,14702039,14628082,12921762,12592555,12569164,12477932 1601049 64421 AK021422,AK022922,AK093757,AK290598,AW954867,BC000863,BC009185,BC022254,BC108276,BE799340,BX648858,NM_001033855,NM_001033857,NM_001033858,NG_007276,AL360083,CH471072,DQ504427,AF088055,AF395747,AF395748,AF395749,AF395750,AF395751,AF395752,NM_022487,AJ296101 CAC37570,BAB13820,BAF83287,AAH00863,AAH09185,AAH22254,Q1HCL2,Q96SD1,NP_071932,NP_001029027,NP_001029029,NP_001029030,CAI40018,CAI40019,CAI40020,CAI40021,CAI40022,CAI40023,CAI40024,CAI40025,EAW86248,EAW86249,EAW86250,EAW86251,EAW86252,ABF47101,AAM53255,AAM53256,AAM53257,AAM53258,AAM53259,AAM53260 Hs.656065 GDB:9836806 A-SCID|DCLREC1C|FLJ11360|FLJ36438|RS-SCID|SCIDA|SNM1C protein-coding 1346102 DCN decorin The protein encoded by this gene is a small cellular or pericellular matrix proteoglycan that is closely related in structure to biglycan protein. The encoded protein and biglycan are thought to be the result of a gene duplication. This protein is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly. It contains one attached glycosaminoglycan chain. This protein is capable of suppressing the growth of various tumor cell lines. There are multiple alternatively spliced transcript variants known for this gene. This gene is a candidate gene for Marfan syndrome. 1580863 7961765,17651433,17558846,17516017,17396208,17335953,17286067,17146610,17097211,17067743,17046817,16989735,16938379,16935612,16902402,16844696,16835231,16583246,16467781,16434404,16258169,15994311,15949467,15923192,15811857,15785240,15671264,15652541,15489334,15336555,15291816,15209389,15147741,15147736,15016829,15016081,14660661,14633702,12853035,12730206,12601001,12482864,12477932,12387878,12372409,12187087,12176891,12106908,12105206,12071714,11979972,11879191,11723132,11598131,11185075,10793130,10747008,10382266,9988678,9895299,9675033,9435313,9328841,9252349,9148753,8889548,8440685,8432527,8432526,7798269,7638106,3597437,3484330,3194009,2647739,2590169,2375748,2374594,2211661,2059554,1968422,1611907,1550960,1468447,1431141,16189514 1634 NM_133503,NM_133507,NM_133505,NM_133504,NM_133506,AC007115,AF491944,CH471054,CR605283,CR605408,CR607208,CR610969,CR611506,CR611956,CR612130,CR613049,CR613885,CR616358,CR621501,CR625941,CR626006,CR626398,L01131,M98262,M98263,AF138300,AF138301,AF138302,AF138303,AF138304,AK291309,AL355731,BC005322,BG536640,BG538290,BM672011,BT019800,BX571756,CD689331,CR407676,CR541946,CR593276,CR595097,CR595819,CR596037,CR597299,CR598428,CR600448,CR601450,CR601529,CR601956,CR602747,NM_001920 NP_001911,NP_598010,NP_598014,NP_598012,NP_598011,NP_598013,AAL92176,EAW97450,EAW97451,EAW97452,EAW97453,EAW97454,EAW97455,EAW97456,EAW97457,EAW97458,P07585,Q6FH10,ABM83482,ABM86695,EAW97459,EAW97460,AAA52301,AAB60901,AAD44713,AAF61437,AAD44714,AAF61438,AAD44715,BAF83998,AAH05322,AAV38603,CAE11881,CAG28604,CAG46744 Hs.706840 GDB:119839 CSCD|DSPG2|PG40|PGII|PGS2|SLRR1B protein-coding 1350050 DCP1A DCP1 decapping enzyme homolog A (S. cerevisiae) Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. 1580863 12417715,15231747,16364915,17081983,15489334,15302935,14702039,12927788,12515382,12477932,12023040,11836524,16189514,15937477 55802 NM_018403,AC097015,AC112218,CH471055,AB075507,AJ275986,AK001969,AK025344,AK094470,AY146651,BC007439,BC016729,BX481349,CR602138,CR625787 NP_060873,EAW65283,EAW65284,BAE45754,CAB77023,BAA92008,AAN62763,AAH07439,Q3LIB4,Q9NPI6,ABM84186,ABM87588 Hs.476353 FLJ21691|HSA275986|Nbla00360|SMAD4IP1|SMIF protein-coding 1348381 DCP1B DCP1 decapping enzyme homolog B (S. cerevisiae) DCP1B is a core component of the mRNA decapping complex, a key factor in the regulation of mRNA decay (Lykke-Andersen, 2002 [PubMed 12417715]).[supplied by OMIM] 1580863 15231747,16964243,15592455,15489334,15067023,14702039,12477932,12417715 196513 NM_152640,AC005342,CH471116,AK056200,AW204088,AY146652,BC015368,BC043437,CR596230,CR620785 NP_689853,EAW88915,EAW88916,BAB71118,AAN62764,AAH15368,AAH43437,Q8IZD4 Hs.130934 DCP1|hDcp1b protein-coding 1349747 DCP2 DCP2 decapping enzyme homolog (S. cerevisiae) DCP2 is a key component of an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM] 1580863 12417715,15231747,16364915,18361920,18039849,17081983,16756390,16699599,15937477,15489334,15273322,15067023,14702039,14527413,12923261,12768200,12515382,12486012,12477932,12218187,9490301 167227 NM_152624,AC008536,CH471086,AB002445,AK025019,AK090564,AY135173,AY146650,BC017965,BC045596,BC064593,BC068042,BX537716,BX648838,CR612463 NP_689837,EAW48988,EAW48989,EAW48990,EAW48991,EAW48992,BAC03479,AAN08884,AAN62762,AAH45596,AAH64593,Q8IU60 Hs.443875 FLJ33245|NUDT20 protein-coding 1344529 DCPS decapping enzyme, scavenger 727225,1580863 16140270,15769464,15489334,15273322,15068804,14702039,14523240,12871939,12477932,12198172,11747811,11042152,9373149,8125298 727225 28960 NM_014026,AP001318,AY040773,CH471065,AF077201,AF532613,AK026554,AK090828,AK223089,AY040771,AY077684,BC014532,CR606807,CR607221,CR616240 NP_054745,AAK91763,EAW67691,AAD26996,AAM90310,BAD96809,AAK91765,AAL77216,AAH14532,Q53G42,Q96C86 Hs.504249 HINT-5|HSL1|HSPC015 protein-coding 1350850 DCR Down syndrome chromosome region 1829580 1637 GDB:125354 1602181 DCST1 DC-STAMP domain containing 1 14702039,12477932 149095 NM_152494,AF314227,AL451085,AK057347,BC064844 NP_689707,AAS46286,CAI13270,CAI13271,CAI13272,BAB71440,AAH64844,Q5T197,Q5T199 Hs.567717 FLJ32785|RP11-307C12.10 protein-coding 1606730 DCST2 DC-STAMP domain containing 2 16710414,16344560,15489334,14702039,12477932 127579 NM_144622,AL451085,CH471121,AA401747,AK057496,AK097468,AK097993,BC111794,DB025590 NP_653223,CAI13267,CAI13268,EAW53146,EAW53147,EAW53148,BAB71511,BAC05065,BAC05211,AAI11795,Q5T1A1,Q8N1J0,AAI66652 Hs.591491 FLJ32934|RP11-307C12.4 protein-coding 1342702 DCT dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) 1580863 8206391,8148378,18312627,18206123,17766092,17200659,17081065,16857183,15856458,15489334,15057823,12843792,12643545,12559959,12477932,11851878,11777994,11549113,10886507,10079069,9743519,9540976,9480844,9356298,9176405,8976176,8950502,8898931,8530077,8306979,8267597,8126111,8088811,8040609,7929451,7858411,7855064,1537334,16189514 1638 DQ821595,DQ821596,DQ821597,DQ821598,DQ821599,DQ821600,DQ821601,DQ821602,DQ821603,DQ821604,DQ821605,DQ821606,DQ821607,DQ821608,DQ821594,AL139318,CH471085,D28767,DQ821585,DQ821586,DQ821587,DQ821588,DQ821589,DQ821590,DQ821591,DQ821592,DQ821593,NM_001922,DQ821610,DQ821611,DQ821612,DQ821613,DQ821614,DQ821615,DQ821616,DQ821617,DQ821618,DQ821619,DQ821620,DQ821621,DQ821609,DQ821622,DQ821623,DQ821624,DQ821625,DQ821626,DQ821627,DQ821628,DQ821647,DQ821648,DQ821649,DQ821650,DQ821651,DQ821652,DQ821653,DQ821654,DQ821655,DQ821656,DQ821657,DQ821658,DQ821659,DQ821660,DQ821661,DQ821662,DQ821663,DQ821664,DQ821665,DQ821666,DQ821667,DQ821668,DQ821669,DQ821670,DQ821671,DQ821672,DQ821673,DQ821674,DQ821675,DQ821676,DQ821677,DQ821678,DQ821679,DQ821680,DQ821681,DQ821682,DQ821683,DQ821684,DQ821685,DQ821686,DQ821687,DQ821688,DQ821689,DQ821690,DQ821691,DQ821692,DQ821693,DQ821694,DQ821695,DQ821696,DQ821697,DQ821698,DQ821699,DQ821700,L38953,AJ000503,AJ132932,AK293115,BC028311,DQ902581,L18967,S69231,D17547,DQ821630,DQ821631,DQ821632,DQ821633,DQ821634,DQ821635,DQ821636,DQ821637,DQ821638,DQ821639,DQ821640,DQ821641,DQ821642,DQ821643,DQ821644,DQ821645,DQ821629,DQ821646 ABG82054,ABG82055,ABG82056,ABG82057,ABG82058,ABG82059,ABG82060,ABG82061,ABG82062,ABG82063,ABG82064,ABG82065,ABG82066,ABG82067,ABG82068,NP_001913,CAC19460,EAX08937,EAX08938,EAX08939,BAA05956,ABG82045,ABG82046,ABG82047,ABG82048,ABG82049,ABG82050,ABG82051,ABG82052,ABG82053,ABG82069,ABG82070,ABG82071,ABG82072,ABG82073,ABG82074,ABG82075,ABG82076,ABG82077,ABG82078,ABG82079,ABG82080,ABG82081,ABG82082,ABG82083,ABG82084,ABG82085,ABG82086,ABG82087,ABG82088,ABG82106,ABG82107,ABG82108,ABG82109,ABG82110,ABG82111,ABG82112,ABG82113,ABG82114,ABG82115,ABG82116,ABG82117,ABG82118,ABG82119,ABG82120,ABG82121,ABG82122,ABG82123,ABG82124,ABG82125,ABG82126,ABG82127,ABG82128,ABG82130,ABG82131,ABG82132,ABG82133,ABG82134,ABG82135,ABG82136,ABG82137,ABG82138,ABG82139,ABG82140,ABG82141,ABG82142,ABG82143,ABG82144,ABG82145,ABG82146,ABG82147,ABG82148,ABG82149,ABG82150,ABG82151,ABG82152,ABG82153,ABG82154,ABG82155,ABG82156,ABG82157,ABG82158,ABG82159,ABG82160,AAC41925,CAA04137,CAB93530,BAF85804,AAH28311,ABG82129,BAA04484,ABI73976,AAA20870,AAC60627,O75767,P40126,Q09GT4,Q0PK43,Q5JUY0,Q9H1U0,Q9NQD8,ABM82392,ABM85575,ABG82089,ABG82090,ABG82091,ABG82092,ABG82093,ABG82094,ABG82095,ABG82096,ABG82097,ABG82098,ABG82099,ABG82100,ABG82101,ABG82102,ABG82103,ABG82104,ABG82105 Hs.301865 GDB:231628 TYRP2 protein-coding 1349899 DCTD dCMP deaminase The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7685356,17602053,15592455,15489334,12477932,8448179,7642519,3627112,16189514 1635 NM_001012732,NM_001921,AC079766,CH471056,L39874,BC001286,BC088357,BI544680,BQ228061,BU188090,CR591914,CR596540,CR604027,CR615419,L12136 NP_001012750,NP_001912,EAX04697,EAX04698,EAX04699,EAX04700,EAX04701,AAC37579,AAH01286,AAH88357,AAA35755,P32321,Q5M7Z8 Hs.183850 GDB:204019 MGC111062 protein-coding 1603060 DCTN1 dynactin 1 (p150, glued homolog, Drosophila) This gene encodes the largest 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 interacts with dynein intermediate chain by its domains directly binding to dynein. Alternative splicing of this gene results in at least 2 functionally distinct isoforms: a ubiquitously expressed one and a brain-specific one. Based on its cytogenetic location, this gene is considered as a candidate gene for limb-girdle muscular dystrophy. 17344930,16772339,16505168,16473624,16240349,16043481,15489334,15375157,15326253,15067220,14702039,14600259,14584027,14581450,14514668,12857853,12789661,12665801,12627231,12477932,12447383,12401177,12391026,12388762,12111331,12063394,11889140,11483508,11461920,11425872,11153697,10671518,10525537,10196146,10074429,9805007,9799602,9454836,9361024,9342383,9244444,9235942,8955163,8856662,8838327,8522607,8325901,7878030,12852857,16189514,17353931,15611139,15580264,9722614,15107855,1828535,17360970,14718566,18305234,18094236,18081319,17932487,17828277,17824900,17532294 1639 NM_004082,NM_023019,AC005041,AF064203,AF064204,AF064205,AF086947,CH471053,AB209625,AK055298,BC006163,BC013978,BC071583,BT006758,BX640799,BX647925,BX647972,U73799,U90445,X98801 NP_004073,NP_075408,AAD55811,AAD55812,AAD03694,EAW99684,EAW99685,EAW99686,EAW99687,BAD92862,AAH06163,AAH71583,AAP35404,CAE45882,CAH10575,CAH10572,AAB52575,AAD00701,CAA67333,O95654,Q14203,Q59F36,Q6AWB1,Q6AWB3,Q6IQ37,Q6LCB2,Q6MZZ3 Hs.516111 GDB:642146 DAP-150|DP-150|HMN7B|P135 protein-coding 1352908 DCTN2 dynactin 2 (p50) This gene encodes a 50-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 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. 1331348,1580863 10226031,8647893,17043677,16369996,16189514,16043481,15813749,15580264,15570572,15489334,15345747,15144186,14983524,14702039,12665801,12477932,12401177,11483508,11153697,10827182,10811826,10671518,10525537,9700164,9373149,8125298 1331348 10540 NM_006400,AC022366,AC022506,CH471054,AK055682,AK096242,AK098794,AK222693,AK292364,AY189155,BC000718,BC009468,BC014083,CR590476,CR590859,CR591746,CR594105,CR594863,CR595014,CR600127,CR601888,CR603091,CR605291,CR606365,CR607554,CR607555,CR607770,CR608534,CR610484,CR611056,CR614051,CR614063,CR614215,CR614261,CR615764,CR619256,CR620231,CR622503,CR623357,CR625762,U50733 NP_006391,EAW97027,EAW97028,EAW97029,BAD96413,BAF85053,AAO34395,AAH00718,AAH09468,AAH14083,AAC50423,Q13561,Q53H88 Hs.289123 GDB:642150 DCTN50|DYNAMITIN|RBP50 protein-coding 1319944 DCTN3 dynactin 3 (p22) This gene encodes the smallest 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, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing of this gene generates 2 transcript variants. 1580863 9722614,16713569,15489334,15164053,14702039,14667819,12477932,11306820,10671518,16189514 11258 BC107697,BG715167,CR541889,NM_024348,NM_007234,AL160270,AL450283,CH471071,AF082513,AK055199,AK091661,BC000319,BC003004 AAI07698,CAG46687,O75935,Q5T1I6,Q8NB28,ABM82906,ABW03466,NP_077324,NP_009165,CAI13143,CAI13144,CAI13145,CAI14179,CAI14180,CAI14181,CAI14182,EAW58439,EAW58440,EAW58441,EAW58442,AAC61280,BAC03716,AAH00319,AAH03004 Hs.511768 GDB:9957581 DCTN-22|DCTN22|MGC111190 protein-coding 736897 DCTN4 dynactin 4 (p62) 16554302,10671518,15489334,14702039,12477932,10843801,10074429 51164 NM_016221,AC008450,AC008453,CH471062,AF156165,AF195120,AK000299,AK125973,AL162085,BC026323 NP_057305,EAW61706,EAW61707,EAW61708,EAW61709,AAF03896,BAA91066,CAB82417,AAH26323,Q9NSJ5,Q9UJW0,ABM83265,ABM86470 Hs.328865 GDB:11501032 dynactin 4 protein-coding 1603378 DCTN5 dynactin 5 (p25) 16189514,15489334,15043994,14702039,12477932,10525537 84516 NM_032486,NG_007406,AC008870,CH471145,AK027387,AK126469,AK292843,BC004191 NP_115875,EAW55808,EAW55809,EAW55810,BAB55077,BAF85532,AAH04191,Q9BTE1 Hs.435941 MGC3248|p25 protein-coding 1316808 DCTN6 dynactin 6 The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. 1580863 15489334,12477932,10525537,10318868,9168138 10671 NM_006571,AC026979,CH471080,BC013175,CR456851,CR590871,CR593835,CR624991,D84145 NP_006562,EAW63466,AAH13175,CAG33132,BAA19984,O00399 Hs.158427 WS-3 protein-coding 1602219 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 17018598,16189514,15988528,15657565,15623817,15511464,15489334,15231748,15123463,14702039,12796399,12477932,10777668 54165 AC092953,CH471052,CS104944,CS185538,AF292100,AF456425,AF456426,AK025764,AK056335,AK126909,BC009478,BC013163,CD687300,NM_020640 NP_065691,EAW78341,EAW78342,EAW78343,CAJ01275,CAJ42719,AAG00606,AAL78672,AAL78673,BAB15235,AAH09478,AAH13163,Q96GG9 Hs.104613 DCUN1L1|RP42|SCCRO|SCRO|Tes3 protein-coding 1323358 DCUN1D2 DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae) 16341674,15988528,15489334,15057823,14702039,12477932 55208 NM_001014283,AL160251,AL442125,CH471085,AK000099,AK001566,BC056669,BM836766 NP_001014305,CAI39428,CAI39429,CAI39777,CAI39778,CAI39779,EAX09210,EAX09211,BAA90944,BAA91760,AAH56669,Q6PH85 Hs.708150 C13orf17|FLJ10704|FLJ20092 chromosome 13 open reading frame 17 protein-coding 1602987 DCUN1D3 DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) 15988528,12477932,10493829 123879 NM_173475,AC002394,AC004381,CH471228,AK123719,AY364247,BC040442,BX648998,CR622365 NP_775746,AAC31669,EAW66842,AAQ76806,AAH40442,Q8IWE4,Q9Y6V3 Hs.101007 44M2.4|DKFZp686O0290|FLJ41725|MGC48972 protein-coding 1604387 DCUN1D4 DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) 11256614,16381901,16344560,15988528,15489336,15489334,12477932,11230166,11076863,9039502 23142 NM_001040402,NM_015115,AC027271,CH471057,AK027051,AK124346,BC015240,BC041702,BC053897,BX537944,D87466,DA770685,DB199153 NP_001035492,NP_055930,EAX05424,EAX05425,EAX05426,EAX05427,EAX05428,AAH53897,CAD97912,BAA13405,Q0JTP4,Q0JV53,Q0JVE5,Q92564,CAL37432,CAL37515,CAL37607,CAL38118 Hs.605388 FLJ42355|KIAA0276 protein-coding 1601949 DCUN1D5 DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae) 15988528,15489334,14702039,12477932 84259 NM_032299,AP001486,CH471065,AK056993,AY364246,BC004169,BC021074,CR590369,CR596583,CR597372,CR599845,CR601995,CR602483,CR606085,CR606495,CR619246,CR625325,CR625928 NP_115675,EAW67036,EAW67037,EAW67038,BAB71336,AAQ76805,AAH04169,Q9BTE7 Hs.503716 FLJ32431|MGC2714 protein-coding 1348637 DCX doublecortex; lissencephaly, X-linked (doublecortin) In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The protein encoded by this gene is a cytoplasmic protein which appears to direct neuronal migration by regulating the organization and stability of microtubules. The encoded protein contains two doublecortin domains, which bind microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene are a cause of X-linked lissencephaly. Multiple transcript variants encoding at least three different isoforms have been found for this gene. 1580863 17178868,17111359,17081983,16835924,16520969,16344560,16195916,15772651,15714065,15663475,15607950,15489334,15345747,15057976,15045646,14999500,14741103,14702039,14550532,12838518,12692530,12552055,12477932,12427674,12390976,12223548,12027577,11857568,11601509,11591131,11468322,11175293,10807542,10441340,10399933,10369164,9989615,9817918,9668176,11001923,9489699,17897623,17283321,9618162,9489700,9132485,16189514 1641 NM_178152,NM_178153,NM_178151,NM_000555,AJ005591,AJ005592,AL031117,AL450490,CH471120,AF034634,AF040254,AF040255,AJ003112,AK002120,AK290455,AU120758,BC027925 NP_835365,NP_835366,NP_835364,NP_000546,CAA06617,CAA19966,CAI43156,EAX02642,EAX02643,EAX02644,EAX02645,EAX02646,EAX02647,EAX02648,EAX02649,AAC52037,AAC31797,AAC31696,CAA05867,BAF83144,AAH27925,O43602,Q5JRZ5,Q5JRZ6 Hs.34780 GDB:9823272 DBCN|DC|LISX|SCLH|XLIS protein-coding 733826 DCXR dicarbonyl/L-xylulose reductase DCXR is an enzyme that has both diacetyl reductase (EC 1.1.1.5) and L-xylulose reductase (EC 1.1.1.10) activities (Nakagawa et al., 2002 [PubMed 11882650]).[supplied by OMIM] 632676,1580863 18086765,17576332,17434498,16847567,16616743,15906319,15489334,15103634,12680326,12665801,12477932,12136162,11882650,10385429,9373149,8125298 632676 51181 NM_016286,AC137723,CH471099,AA446582,AB013846,AF113123,AF139841,AF515623,AF515624,AF515625,AK226040,BC001470,BC003018,BT006881,CB959852,CR619638 NP_057370,EAW89732,EAW89733,BAB64299,AAF14864,AAP97273,AAN59786,AAO15991,AAM54026,AAH01470,AAH03018,AAP35527,Q7Z4W1 Hs.9857 GDB:11510349 DCR|HCR2|HCRII|KIDCR|P34H diacetyl/l-xylulose reductase protein-coding 1601973 DDA1 DET1 and DDB1 associated 1 12477932,17452440 79016 NM_024050,AC010463,CH471106,AY563006,BC000615,CR599345,CR609206,CR614550,CR620603,DQ090952 NP_076955,EAW84593,EAW84594,AAS66629,AAH00615,AAZ41375,Q9BW61 Hs.706814 C19orf58|MGC2594|PCIA1 protein-coding 1343347 DDAH1 dimethylarginine dimethylaminohydrolase 1 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. 1625582,1580863 9874257,18251679,17895252,17881609,17273169,17075694,16920729,15781754,15501905,15489334,14702039,14638548,12477932,12441345,11811522,11546769,10950934,10691782,10493931,8982498,7608105 1625582 23576 NM_012137,AL078459,AL360219,CH471097,AK024917,AK026093,AK055626,AK098405,BC033680,BC036432,BC043235,BX648145 NP_036269,EAW73199,EAW73200,EAW73201,EAW73202,AAH33680,AAH43235,CAI45988,O94760,Q5HYC8,Q5VWX2 Hs.379858 GDB:10449570 DDAH|FLJ21264|FLJ25539 protein-coding 1346413 DDAH2 dimethylarginine dimethylaminohydrolase 2 This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. 1304476,1580863 16130169,10493931,17002794,16928504,14574404,14550280,12477932,12370443,11042152,10950934,10691782,10384126,16920729,16189514,16021519,15489334,14656967 1304476 23564 NM_013974,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AF070667,AF087894,AK026191,AK098671,BC001435,CR596804,CR597156,CR607100,CR616443 NP_039268,AAD18074,CAB46079,CAI18413,CAI18414,CAI17820,CAM45772,BAB63377,CAM26098,EAX03500,EAX03501,EAX03502,CAQ07022,CAQ10110,CAQ08895,AAD20973,AAP97193,AAH01435,O95865,Q5SRR9 Hs.247362 GDB:10449572 DDAH|DDAHII|G6a|NG30 protein-coding 734016 DDB1 damage-specific DNA binding protein 1, 127kDa This gene encodes the large subunit of DNA damage-binding protein which is a heterodimer composed of a large and a small subunit. This protein functions in nucleotide-excision repair. Its defective activity causes the repair defect in the patients with xeroderma pigmentosum complementation group E (XPE). However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. 1580863 8407967,12732143,17088560,10583946,10214908,18381890,18235224,17626091,17620334,17609381,17360488,17079684,17041588,16964240,16951172,16949367,16940174,16861906,16861890,16678110,16537899,16473935,16413485,16407252,16407242,16227264,16223728,15767425,15489334,15009096,14739464,12743284,12477932,12388698,12151405,12050362,12034848,10777491,10574459,8798680,8538642,8530102,8171034,7815490,3175673,11673459,14743216,15882621,15448697,11564863 1642 NM_001923,AP003037,AP003108,AY960579,CH471076,AJ002955,AL831958,BC011686,BC021044,BC032080,BC050530,BC051764,CD242268,CR610187,L40326,U18299,U32986 NP_001914,AAX44048,EAW73933,EAW73934,EAW73935,EAW73936,EAW73937,CAA05770,AAH11686,AAH50530,AAH51764,AAA62838,AAC50349,AAA88883,Q16531 Hs.290758,Hs.705536 GDB:595014 DDBA|UV-DDB1|XAP1|XPCE|XPE|XPE-BF damage-specific dna binding protein 1 protein-coding 1320906 DDB2 damage-specific DNA binding protein 2, 48kDa This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. 1601050,1580863 8798680,8602529,8530102,8350924,16189514,15856024,8407967,12732143,10583946,10214908,18089819,17967871,17660462,17630510,17357082,17081983,17041588,16951172,16678110,16527807,16522664,16473935,16344560,16260596,16223728,15882621,15644494,15489334,14751237,14702039,14560002,12944386,12812979,12553360,12496474,12477932,12151405,12050362,12034848,11971958,11852074,11673459,11564863,9418871 1601050 1643 AC018410,NM_000107,AC090589,AY220533,CH471064,AA278953,AB107037,AB107038,AB107039,AB107040,AK091640,BC000093,BC050455,BT007139,CR598131,CR602652,CR611357,CR614544,CR623863,CR624926,DB053816,U18300 NP_000098,AAO25655,EAW67952,EAW67953,EAW67954,EAW67955,EAW67956,EAW67957,EAW67958,EAW67959,BAD12557,BAD12558,BAD12559,BAD12560,AAH00093,AAP35803,AAB07897,Q92466,ABM81645 Hs.708067 GDB:595015 DDBB|FLJ34321|UV-DDB2 protein-coding 734177 DDC dopa decarboxylase (aromatic L-amino acid decarboxylase) 1358586,1600876,1580863,1300048 15489334,15532536,15322424,15318031,15079002,14991824,12718431,12690205,12555230,12477932,12200739,12116187,11992572,11750071,10391209,8889548,8510497,2590185,1612608,1540578,1395716,1357595,7567987,12864730,18270970,18163388,17967881,17948905,17533144,17200166,17184203,16740595,16403819,15879433 1358586 1644 NM_001082971,NM_000790,AC018705,AY526322,CH236955,CH471128,L05075,M84592,S46516,AJ310724,AU310260,AW772056,BC000485,BC008366,BM713211,BT007009,CD013938,CR456724,CR612794,CR623782,M76180,M88700 NP_001076440,NP_000781,AAS01995,AAS00092,EAL23898,EAW60970,EAW60971,EAW60972,AAB59432,AAD40482,AAB23675,CAC84071,AAH00485,AAH08366,AAP35655,CAG33005,AAA58437,AAA20894,P20711,Q53Y41,Q5W5T9,Q6IBS8,Q75MJ6,ABW03755 Hs.359698 GDB:127738 AADC dopa decarboxylase protein-coding 1354069 DDEF1 development and differentiation enhancing factor 1 1580863 12029088,16636290,16421571,16038802,15897555,14702039,12522101,12477932,12149250,12058076,11773070,10574462,9819391,15719014 50807 NM_018482,AC009682,AC103725,AC131568,AC139019,CH471060,AB033075,AF222859,AI656533,AK056811,AW236866,AW236958,BC020631,BC070268,BC105978,BC137135,BX537768,CR601698 NP_060952,EAW92130,EAW92131,BAA86563,AAF67666,AAH20631,AAI37136,CAD97831,Q8WWA4,Q9NYZ7,Q9ULH1 Hs.655552 GDB:9958978 AMAP1|ASAP1|CENTB4|KIAA1249|PAG2|PAP|ZG14P protein-coding 1602895 DDEF1IT1 DDEF1 intronic transcript 1 11042152 29065 NR_002765,AC009682,AF161539 Hs.658387 HSPC054 miscrna 1313189 DDEF2 development and differentiation enhancing factor 2 This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. In vitro it shows strong GTPase-activating protein (GAP) activity towards the small GTPases ADP-ribosylation factor (ARF) 1 and ARF5 and weak activity towards ARF6. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. 1580863 11716503,17081983,15719014,15489334,15483625,15231847,14702039,12477932,12149250,11304556,10749932,10022920,9819391,9455477,17353931 8853 NM_003887,AC079782,AC080162,AC093904,CH471053,AB007860,AK091121,AK124900,BC063308 NP_003878,AAY14904,AAY14856,AAY24112,EAX01002,EAX01003,EAX01004,EAX01005,EAX01006,BAA23696,BAC03588,AAH63308,O43150,Q53R39,Q53RS3,Q53RT9,Q8N282 Hs.555902 GDB:9957417 AMAP2|ASAP2|CENTB3|FLJ42910|KIAA0400|PAG3|PAP|Pap-alpha|SHAG1 protein-coding 1346642 DDEFL1 development and differentiation enhancing factor-like 1 1580863 16710414,15489334,14702039,14654939,12477932 55616 NM_017707,AL021154,AL357134,CH471134,AB056749,AK000206,AK000253,AK074319,AK092291,BC023519,BC052305,BC060786,CR609624 NP_060177,CAI19596,CAI22177,EAW95050,EAW95051,EAW95052,EAW95053,BAB85677,BAA91008,BAA91033,AAH23519,AAH52305,AAH60786,Q6PJ46,Q8TDY4,Q9NXH7 Hs.437379 GDB:11508716 ACAP4|CENTB6|FLJ20199|UPLC1 protein-coding 1318429 DDHD1 DDHD domain containing 1 1580863 16806233,15489334,14702039,12477932,11214970,9488669 80821 NM_030637,AL352979,AL356020,CH471061,AB051492,AK058137,AK125372,AK125556,AY173947,BC018014,BC030703,DQ315474 NP_085140,EAW80621,EAW80622,EAW80623,EAW80624,BAB21796,BAB71679,AAO49717,AAH18014,AAH30703,ABC43196,Q2PNX9,Q2VYF2,Q8NEL9 Hs.513260 protein-coding 1318138 DDHD2 DDHD domain containing 2 14702039,12477932,11788596,9872452 23259 NM_015214,AC084024,AC087362,CH471080,AB018268,AK023218,AK026961,AK056525,AK094951,AK125904,AK127040,BC010504,CR590123 NP_056029,EAW63323,EAW63324,BAA34445,BAB14470,AAH10504,O94830 Hs.434966 KIAA0725|SAMWD1 protein-coding 1604424 DDI1 DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae) 16189514,15060002,14702039,12477932 414301 NM_001001711,AP003043,CH471065,AF429971,AK093336,BC021172,BC021710,BC022017,BC022018,DB449163,DB513526 NP_001001711,EAW67047,AAP97303,BAC04135,AAH21172,AAH21710,AAH22017,AAH22018,Q8WTU0 Hs.591941,Hs.695801 FLJ36017 protein-coding 1603951 DDI2 DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae) 15146197,14702039,12838346,12477932 84301 NM_032341,AK057374,AK293006,AL598343,AL121992,CH471167,BC006011,BN000122,CN261722 NP_115717,BAF85695,CAI22369,EAW51740,EAW51741,EAW51742,EAW51743,AAH06011,CAD67552,Q5TDH0 Hs.239459 MGC14844|RP4-680D5.5 protein-coding 1350925 DDIT1L DNA-damage-inducible transcript 1-like 1990262 1648 GDB:128099 69165 DDIT3 DNA-damage-inducible transcript 3 1599729,1599731,1599736,1599726,1599728,1599745,1580863 7503811,8510758,14667815,1339368,17968315,17872950,17709599,17686866,17652152,17647282,17620318,17616685,17513780,17468515,17276738,17273769,17171638,16942595,16651630,16463383,16189514,16098044,16005964,15917187,15870698,15775988,15688424,15659384,15588942,15489334,15327748,15316935,15308577,15286712,15277326,15271854,15053923,15001576,14685163,14669326,14635187,14630918,12939601,12876286,12805554,12706815,12618752,12477932,12297725,12168790,12138118,12097650,12082616,12069855,12006103,11948400,11805088,10713066,10523647,8662954,8650547,8637704,8622660,2372777,1990262,1547942,1283316,16511829 1599729,1599731,1599736,1599726,1599728,1599745 1649 NM_004083,AC022506,AY880949,CH471054,AA476561,AI658803,AV729744,AY461580,BC003637,BC064556,BT006691,CR616853,S40706 NP_004074,AAW56077,EAW97021,EAW97022,EAW97023,AAH03637,AAP35337,AAB22646,P35638,Q53YD1 Hs.505777,Hs.690217 GDB:128102 CEBPZ|CHOP|CHOP10|GADD153|MGC4154 dna-damage inducible transcript 3 protein-coding 1346554 DDIT4 DNA-damage-inducible transcript 4 633979,737633 12453409,11256614,17307335,17005863,16713569,16381901,16341674,16258273,15988001,15632201,15592522,15489336,15180327,15146197,14646594,12477932,11884613,11230166,11076863 633979,737633 54541 BM843387,CN428398,CR590989,CR591852,CR593814,CR594641,CR595139,CR595711,CR598151,CR598593,CR599296,CR599477,CR599579,CR600188,CR600907,CR601425,CR601977,CR608474,CR609436,CR610636,CR614476,CR616416,CR616560,CR619083,CR619259,CR621890,CR624887,NM_019058,AL683820,CH471083,AF335324,AK000507,AL136668,AY090097,BC000708,BC007714,BC015236,BE882343 Q9NX09,CAL37485,NP_061931,CAH73863,EAW54452,EAW54453,AAL38424,BAA91214,CAB66603,AAM10442,AAH00708,AAH07714,AAH15236,ABM81910,ABM85085 Hs.523012 Dig2|FLJ20500|REDD-1|REDD1|RP11-442H21.1|RTP801 protein-coding 1342784 DDIT4L DNA-damage-inducible transcript 4-like 737633 16189514,15632201,15308555,14702039,12477932,12453409 737633 115265 NM_145244,AP001961,CH471057,AK094236,AL832277,BC013592 NP_660287,EAX06119,BAC04315,CAI46176,AAH13592,Q96D03 Hs.480378 REDD2|Rtp801L protein-coding 1345220 DDN dendrin 12559952,12477932,9872452,8915891 23109 NM_015086,AC011603,CH471111,AB018292,BC039264,CR591956 NP_055901,EAW58031,BAA34469,O94850 Hs.591044 KIAA0749 protein-coding 1314668 DDO D-aspartate oxidase The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. 1580863 9163533,15489334,14574404,12477932,12209855,9820813,9148742,8187937,1991137,21608 8528 NM_004032,NM_003649,AL050350,CH471051,AK293029,BC032786,CR590300,D89858 NP_004023,NP_003640,CAI42509,CAI42510,CAI42511,CAI42513,EAW48316,EAW48317,EAW48318,BAF85718,AAH32786,BAA14031,Q5JXM5,Q5JXM6,Q5T253,Q6ZSU5,Q99489 Hs.591348 GDB:9955554 DASOX|DDO-1|DDO-2|FLJ45203 protein-coding 1319052 DDOST dolichyl-diphosphooligosaccharide-protein glycosyltransferase This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. 727247,1580863 15289604,12477932,10080935,9367678,7788527,7625827,9642163,17353931,15835887,15489334,15342556 727247 1650 AB062391,BC002594,BP233191,CB137813,CB988524,CR591162,CR593467,CR593741,CR594607,CR595104,CR599123,CR600697,CR606279,CR607247,CR608166,CR609132,CR609695,CR610582,CR610703,CR612175,CR612841,CR617144,CR618307,CR618510,CR618795,CR619566,CR619937,NM_005216,AL391357,CH471134,D89060,CR622429,CR622568,CR624247,D29643 BAB93478,AAH02594,NP_005207,CAH73476,EAW94936,EAW94937,EAW94938,EAW94939,EAW94940,BAA23670,BAA06126,P39656,Q5VWA5,ABM82853,ABM86040 Hs.523145 GDB:9786132 AGE-R1|KIAA0115|MGC2191|OK/SW-cl.45|OST|OST48|WBP1 protein-coding 735912 DDR1 discoidin domain receptor tyrosine kinase 1 Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene is a RTK that is widely expressed in normal and transformed epithelial cells and is activated by various types of collagen. This protein belongs to a subfamily of tyrosine kinase receptors with a homology region to the Dictyostelium discoideum protein discoidin I in their extracellular domain. Its autophosphorylation is achieved by all collagens so far tested (type I to type VI). In situ studies and Northern-blot analysis showed that expression of this encoded protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, this protein is significantly over-expressed in several human tumors from breast, ovarian, esophageal, and pediatric brain. This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Alternative splicing of this gene results in multiple transcript variants. 1580863 17721511,9659899,8302582,8390675,18362184,18270328,18190796,17982627,17970783,17704737,17440927,17440435,17299390,17101694,17027969,17001518,16968898,16912190,16774916,16702430,16507902,16440311,16337946,16169070,16166739,15489334,15240533,15213330,15146197,15136580,15111304,14764702,14574404,14500648,12935821,12477932,11606478,11472367,11133186,11126911,10783152,9659900,9492013,9396043,8977099,8796349,8682498,8622863,8226977,8139570,7848919,7834423,7789998,7774938,10681566 780 AL805917,BA000025,BX927194,CH471081,CR759747,U48705,X98208,X99031,AB210021,AF353182,AK130776,AK291621,BC008716,BC013400,BC070070,BI193181,BM875592,CN362335,CR605641,L11315,L20817,L57508,X74979,Z29093,NM_001954,NM_013993,NM_013994,AB088102,AB103608,AB202100,AL662854,AL662870,AL773541,AL773589 Q5ST11,Q6NSK4,Q6ZNR9,Q96T62,Q9UD35,Q9UD36,Q9UD86,CAI18533,CAI18534,BAB63318,CAQ09767,CAQ09768,EAX03335,EAX03336,EAX03337,EAX03338,EAX03339,EAX03340,EAX03341,EAX03342,EAX03343,EAX03344,EAX03345,EAX03346,CAQ06756,CAQ06757,AAC50917,CAA66871,BAE06103,AAK48842,BAC85426,BAF84310,AAH08716,AAH13400,AAH70070,AAA02866,AAA18019,AAB05208,CAA52915,CAA82335,Q08345,Q2L6H3,Q4LE50,NP_001945,NP_054699,NP_054700,BAC54935,BAF31270,BAE78621,CAI17433,CAI17434,CAI18441,CAI18442,CAI18450,CAI18451 Hs.631988 GDB:438201 CAK|CD167|DDR|EDDR1|MCK10|NEP|NTRK4|PTK3|PTK3A|RTK6|TRKE protein-coding 1312254 DDR2 discoidin domain receptor tyrosine kinase 2 Receptor tyrosine kinases (RTKs) play a key role in the communication of cells with their microenvironment. These molecules are involved in the regulation of cell growth, differentiation, and metabolism. In several cases the biochemical mechanism by which RTKs transduce signals across the membrane has been shown to be ligand induced receptor oligomerization and subsequent intracellular phosphorylation. This autophosphorylation leads to phosphorylation of cytosolic targets as well as association with other molecules, which are involved in pleiotropic effects of signal transduction. RTKs have a tripartite structure with extracellular, transmembrane, and cytoplasmic regions. This gene encodes a member of a novel subclass of RTKs and contains a distinct extracellular region encompassing a factor VIII-like domain. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. 1580863 9659899,18201965,17968949,17786355,17703188,17299390,16967187,16806867,16186108,16186104,15544808,15111304,14702039,12935821,12477932,11884411,11133186,9373149,8889549,8247548,8125298,7774938,1567394,1486804 4921 NM_001014796,NM_006182,AL445197,AL596325,CH471067,AA148473,AK095975,AK225063,AK225196,AY423733,AY871271,BC052998,BX640899,CF994640,X74764 NP_001014796,NP_006173,CAI15939,CAI15940,CAI15941,CAI15942,CAI15943,EAW90713,EAW90714,AAS00496,AAX11427,AAH52998,CAE45946,CAA52777,Q16832,Q5J7V3,Q5T242,Q5T244,Q5T245,Q6MZT2,Q7Z730 Hs.591469,Hs.593833 GDB:266605 MIG20a|NTRKR3|TKT|TYRO10 protein-coding 1353002 DDT D-dopachrome tautomerase D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. 1580863 9480844,17353931,15489334,15461802,12823441,12665801,12477932,11997397,10591208,10079069,9729470,9716662,8267597,1286669 1652 NM_001355,NM_001084392,AF012434,AF058293,AP000351,CH471095,Y11151,AK292044,BC005971,BC015508,BT006970,CA414359,CR456431,U49785,U84143 NP_001346,NP_001077861,AAC77468,AAC13717,EAW59622,EAW59623,CAA72037,BAF84733,AAH05971,AAH15508,AAP35616,CAG30317,AAB48546,AAB41503,P30046,Q53Y51,CAK54422,CAK54721,ABM82497,ABM85691 Hs.656723 GDB:9835152 DDCT protein-coding 1625820 DDTL D-dopachrome tautomerase-like 16344560,9729470 100037417 NM_001084393,AP000350,AP000351,AI686044,CR590354,CR606018,DB157727 NP_001077862 Hs.1581 protein-coding 1351249 DDU dermo-distortive urticaria 6945804,7294069 29764 GDB:10796026 737232 DDX1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. 1580863 15567440,15489334,12477932,12183465,11790298,11598190,10834319,10319407,8135819,1552844,15892970,16354571,16189514,7689221,17220478,17611020,17380054,17380053,17028906,15635413,15588285 1653 NM_004939,AC008278,CH471053,BC012132,BC012739,BC053673,CR598216,EF418570,EF418571,X70649 NP_004930,EAX00894,EAX00895,EAX00896,EAX00897,EAX00898,AAH12132,AAH53673,ABN70940,ABN70941,CAA49992,Q6PJR1,Q92499 Hs.440599 GDB:141738 DBP-RB|UKVH5d dead/h (asp-glu-ala-asp/his) box polypeptide 1 protein-coding 1319083 DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. 1580863 8660968,17081983,15635413,15489334,12477932,11790298,10830185,10655059,10222653,9199348,9166830,15380516 1662 NM_004398,AP002453,AP003027,AP003387,CH471065,AB001343,AB040537,AB209884,BC049217,BC064921,BC091521,BC093654,BC093656,U28042 NP_004389,EAW67122,EAW67123,EAW67124,BAA20386,BAB18536,BAD93121,AAH49217,AAH91521,AAH93654,AAH93656,AAC50823,Q13206,Q59EC7,Q86VR6 Hs.591931 GDB:698403 HRH-J8 protein-coding 1315426 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 9013641,17189189,17105772,15520935,15489334,14702039,12477932,10648783,8833153,8798685,8530100 1663 CR617012,U33833,U75967,U75968,U75969,X99583,NM_030653,NM_152438,NM_004399,AC008013,CH471116,U35241,AK021703,BC001591,BC011264,BC012834,BC047317,BC050069,BC050522,BC111733,BC148224,CR590809 AAB06962,AAB18749,AAB18750,AAB18751,CAA67895,Q2NKM7,Q93000,Q96FC9,NP_085911,NP_689651,NP_004390,EAW88576,EAW88577,EAW88578,EAW88579,EAW88580,EAW88581,EAW88582,EAW88583,AAA99060,AAH50069,AAH50522,AAI11734 Hs.443960 GDB:698404 CHL1|CHLR1|KRG2|MGC133249|MGC9335 protein-coding 1353019 DDX11P DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 pseudogene 64496 GDB:11505866 1352632 DDX12 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (CHL1-like helicase homolog, S. cerevisiae) 1580863 15252450,12477932,9013641,8833153 440081 XM_495908,XM_931833,XM_001716130,AC092821,AC141557,BC035635,BC065494,DQ786301,U33834 XP_495908,XP_936926,XP_001716182,AAB06963,Q92771 Hs.447869,Hs.504688 GDB:698405 CHLR2 protein-coding 1312679 DDX17 DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. 1580863 8871553,18005418,17699760,17226766,16964243,16344560,16189514,15489334,15461802,15635413,15342556,15324660,15298701,14559993,12477932,12193588,12138182,11675387,11250900,10591208,9747670,9110174,8619474,12738788,12171929,12595555 10521 NM_006386,NM_030881,NM_001098505,CH471095,Z97056,AA765457,AB209595,AF131750,AK024985,AK074224,AL080113,AL713763,NM_001098504,AU130891,BC029553,BC045747,BI545691,BP353248,CB215934,CR456432,CR591397,CR594526,CR608668,CR620697,CR625919,U59321,BC000595 NP_001091974,NP_006377,NP_112020,NP_001091975,EAW60241,EAW60242,EAW60243,EAW60244,EAW60245,EAW60246,EAW60247,EAW60248,CAB09792,BAD92832,AAD20033,CAH10627,AAH00595,CAG30318,AAC50787,Q59F66,Q8N2Z1,Q92841,Q9UQL5,CAK54423,CAK54722 Hs.528305,Hs.665429,Hs.705651 GDB:9957548 DKFZp761H2016|P72|RH70 protein-coding 1348568 DDX18 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. 1580863 8861962,18351129,15489334,14702039,12665801,12477932 8886 NM_006773,AC009312,AC009404,CH471103,AB209392,AK001467,AK091227,BC001238,BC003360,BC024739,BU599536,BX538334,CR457060,CR606490,CR610124,X98743 NP_006764,AAY14819,AAX88947,EAW95192,EAW95193,EAW95194,BAD92629,BAA91709,BAC03616,AAH01238,AAH03360,AAH24739,CAG33341,CAA67295,Q9NVP1,Q59FR7,Q8N254,Q4ZG72,Q53TI6 Hs.363492 GDB:9957536 FLJ33908|MrDb protein-coding 1351654 DDX18P1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 1 319099 NG_002480,AL391262 pseudo 2293115 DDX18P2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 2 651053 NG_007648,AC092079 651053 pseudo 2289767 DDX18P3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 3 442164 XR_016929 Hs.646977 pseudo 2289753 DDX18P4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 4 402222 XR_016297 Hs.646694 pseudo 2289764 DDX18P5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 pseudogene 5 646378 XR_017110,XR_019035 Hs.647228 pseudo 1349788 DDX19A DEAD (Asp-Glu-Ala-As) box polypeptide 19A 737633,1580863 16189514,15489334,14702039,12477932,9373149 737633 55308 NM_018332,AC012184,CH471241,AB209401,AK001988,AK094061,AK125701,AK223262,AL832901,AL832970,BC005162,BC006544,BC025771,BC137496,BC137497,CR603645,CR749227 NP_060802,EAW51826,BAD92638,BAA92022,BAD96982,CAH10629,CAH10622,AAH05162,AAH06544,AAI37497,AAI37498,CAH18083,Q59FQ9,Q68DY7,Q69YM2,Q9NUU7 Hs.656037 DDX19-DDX19L|DDX19L|DKFZp686C21137|FLJ11126 dead (asp-glu-ala-as) box polypeptide 19-like protein-coding 1346558 DDX19B DEAD (Asp-Glu-Ala-As) box polypeptide 19B DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 10428971,17353931,15489334,14702039,12477932,12219940,11230166,9373149,8125298,1424986 11269 NM_007242,NM_001014451,NM_001014449,AC012184,CH471241,AF353720,AJ237946,AK027378,AK223115,AL136639,BC003626,BC010008,BC110805,BI756088,CR457215,CR533509,CR593012,CR594442,CR604580,CR604732,CR625899 NP_009173,NP_001014451,NP_001014449,EAW51827,EAW51831,EAW51832,EAW51834,EAW51837,AAK40102,CAB52189,BAD96835,CAB66574,AAH03626,AAH10008,AAI10806,CAG33496,CAG38540,Q2NL95,Q53G16,Q96KE7,Q9UMR2 Hs.221761 GDB:9957604 DBP5|DDX19|RNAh dead (asp-glu-ala-as) box polypeptide 19 protein-coding 1320818 DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. 1580863 10383418,11714716,10601333,10531003,18381463,16964243,16710414,16301532,15489334,15302935,14970384,14702039,14667819,12668731,12477932,12095920,12065586,12007404,11914277,11748230,11713266,11149922,10942426,10725331,9110174,8619474,16189514,17353931 11218 NM_007204,AL049557,CH471122,AF106019,AF155803,AF171063,AK001506,AL133598,AY007146,BC011556,BC031062,BC034953,CR617207 NP_009135,CAB55686,EAW56507,EAW56508,AAD42744,AAK56799,AAF14544,BAA91727,CAB63734,AAG02003,AAH11556,AAH31062,AAH34953,Q8IYV2,Q8NEH0,Q8TDR3,Q9H4N4,Q9UHI6,ABM83175,ABM86375 Hs.591405 GDB:9957442 DKFZp434H052|DP103|GEMIN3 protein-coding 1312763 DDX21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. 1580863 8614622,17353931,18180292,17081983,16565220,16045751,15635413,15489334,15302935,15164054,14559904,12477932,11891046,11823437,11790298,11237763,10860663,9177271 9188 NM_004728,AF261902,AF261903,AF261904,AF261905,AF261906,AF261907,AF261908,AF261909,AF261910,AF261911,AF261912,AF261913,AF261914,AF261915,AF261916,AF261917,AL359844,CH471083,AB062394,AK025629,BC004182,BC008071,BC009432,BC017228,BC104671,BU963561,BX648405,CR592690,CR596179,CR749598,U41387 NP_004719,AAF78930,CAH72377,EAW54305,EAW54306,EAW54307,BAB93481,AAH08071,AAI04672,CAH18395,AAB02546,Q3SWU7,Q8NI92,Q9NR30,ABM84557,ABM87851 Hs.576875 GDB:9955197 DKFZp686F21172|GUA|GURDB|RH-II/GU|RH-II/GuA protein-coding 1318600 DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. 9409622,9774689,17353931,12226669,9539711,18425142,17081983,15635413,15489334,12477932,12090300,11991638 9416 NM_004818,AC117498,CH471111,AF026402,AK128428,AK292921,BC002366,CD709611 NP_004809,EAW58010,EAW58011,EAW58012,EAW58013,EAW58014,EAW58015,EAW58016,EAW58017,AAB87902,BAF85610,AAH02366,Q9BUQ8,ABM82351,ABM85525 Hs.130098 MGC8416|PRPF28|U5-100K|prp28 protein-coding 1353174 DDX24 DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. 1580863 15489336,15489334,15302935,15014966,14702039,12477932,11230166,11076863,17353931,10936056,11256614,17081983,16964243,16381901,16169070,16051665,15635413 57062 NM_020414,AL079302,CH471061,AB209382,AF134475,AF145022,AF161446,AF214731,AK025162,AL136886,BC000778,BC008847,BC009406,BC096826,BX537533,CR596324,CR615921,CR619609,CR624535 NP_065147,EAW81550,EAW81551,EAW81552,BAD92619,AAP97252,AAP97274,AAF29006,AAG02169,BAB15079,CAB66820,AAH08847,AAH09406,AAH96826,Q0JSU9,Q4V9L5,Q59FS7,Q7Z4W0,Q7Z4X3,Q9GZR7,Q9P054,CAL38415,ABM84449,ABM87509 Hs.510328 GDB:10796922 protein-coding 1353633 DDX25 DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. 68232,1580863 16293649,15489334,15094194,12477932,10608860 68232 29118 NM_013264,AP000842,AY735312,CH471065,AF155140,BC031098,BC035388,BC050360,CR603268,CR604125,CR605679 NP_037396,AAU84667,EAW67668,EAW67669,AAF21371,AAH35388,AAH50360,Q9UHL0 Hs.420263 GDB:11505868 GRTH protein-coding 1343446 DDX26B DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 16344560,15772651,15146197,14702039,12477932 203522 NM_182540,AL357834,AL391380,CH471107,AI187071,AK096544,AK123209,AK126202,AL833319,BM455073,BQ044923,BX648113,CN343659,DB231166,CR936620 NP_872346,EAX11725,EAX11726,EAX11727,BAC04813,BAC85559,BAC86484,Q5JSJ4,Q8N8M2,CAI56763 Hs.496829 DKFZp686G0470|FLJ41215|MGC88298 protein-coding 1313779 DDX27 DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, the function of which has not been determined. 1580863 17353931,15635413,15498874,15489334,14702039,12477932,11790298,11780052,9373149,8125298 55661 NM_017895,AL049766,AL357560,CH471077,AF193054,AF336851,AK000603,AK022979,AK025891,AK127128,AK223116,AL512707,AL832131,AY044431,BC009304,BC011927,BC016060,BC104480,BC126287,BC130275,BF026095,CR613399 NP_060365,CAI22427,CAH70236,EAW75665,EAW75666,EAW75667,EAW75668,AAG22482,AAK21271,BAA91284,BAB14343,BAD96836,AAK95821,AAH09304,AAH11927,AAH16060,AAI04481,AAI26288,AAI30276,Q3MI07,Q53G15,Q96GQ7 Hs.65234 GDB:11505870 DKFZp667N057|FLJ12917|FLJ20596|FLJ22238|HSPC259|MGC1018|MGC163147|PP3241|RHLP|Rrp3p|dJ686N3.1 protein-coding 1323712 DDX28 DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. 1580863 15489334,14702039,12663657,12477932,11350955,10493829 55794 AC130462,AF329821,CH471092,AK002144,NM_018380,BC014517,BC024273 NP_060850,AAG59833,EAW83206,BAA92106,AAH24273,Q9NUL7 Hs.458313 GDB:11505872 FLJ11282|MDDX28 protein-coding 1312596 DDX31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants. 15635413,15489334,15164053,14702039,12782131,12477932,12429849,9373149,8125298 64794 NM_022779,NM_138620,AL160165,AL354735,CH471090,AF335567,AF335568,AF335569,AF427339,AK023695,AK027002,AK027484,AK225121,AK225350,BC012726,CR594429 NP_073616,NP_619526,CAH70530,CAH70531,CAH70532,CAI16564,CAI16565,EAW88006,EAW88007,EAW88008,EAW88009,AAQ14888,AAQ14889,AAQ14890,AAL26549,BAB14644,BAB15620,BAB55146,AAH12726,Q9H8H2,AAI56833 Hs.660767 GDB:11505874 FLJ13633|FLJ14578|FLJ23349 protein-coding 1350107 DDX39 DEAD (Asp-Glu-Ala-Asp) box polypeptide 39 This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. 727748,1580863 15047853,7601445,17548965,17196963,16949217,15635413,15489334,15338056,14702039,14667819,12477932,11979277,11790298,16189514 727748 10212 NM_005804,AC008569,CH471106,AL512698,BC001009,BC010455,BC032128,CR590674,CR592759,CR597385,CR599572,CR599681,CR600064,CR606167,CR608486,CR609572,CR609792,U90426 ABM85489,NP_005795,EAW84414,EAW84415,EAW84416,EAW84417,EAW84418,CAH10601,AAH01009,AAH10455,AAH32128,AAB50231,O00148,Q69YT6,Q8N5M0,Q96FT2,ABM82313 Hs.311609 GDB:9955699 BAT1|BAT1L|DDXL|MGC18203|MGC8417|URH49 protein-coding 1352934 DDX3X DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which interacts specifically with hepatitis C virus core protein resulting a change in intracellular location. This gene has a homolog located in the nonrecombining region of the Y chromosome. The protein sequence is 91% identical between this gene and the Y-linked homolog. 1580863 9381176,10329544,17855521,17667941,17631897,17357160,16818630,16341674,16301996,16097034,16094384,15592455,15588285,15507209,15489334,14743216,14729942,12477932,11710523,10859333,9730595,16354571,15516266,17353931,16189514,14559993,10336476 1654 NM_001356,AC073076,AL391647,CH471141,AB208983,AF000982,AF000983,AF061337,AF086430,AI698207,AK127902,AK291153,AY776161,BC007668,BC011819,BC055083,BM454841,BM833870,CB107740,U50553 NP_001347,EAW59402,EAW59403,EAW59404,EAW59405,BAD92220,AAC51829,AAC51830,AAC34298,BAC87182,BAF83842,AAV52794,AAH11819,AAB95637,Q59GX6,Q5JSI3,Q5S4N1,Q6ZRX5,O00571 Hs.380774 DBX|DDX14|DDX3|HLP2 protein-coding 1348882 DDX3Y DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it has a homolog on the X chromosome. The gene mutation causes male infertility, Sertoli cell-only syndrome or severe hypospermatogenesis, suggesting that this gene plays a key role in the spermatogenic process. Alternatively spliced variants, encoding the same protein, have been identified. 1580863 15862967,15592455,15570572,15489334,15383328,15294876,15144186,15096539,12815422,12477932,11929796,11710523,11591417,10861003,10767340,9381176 8653 NM_004660,NM_001122665,AC004474,CH471155,AF000984,AF000985,BC011022,BC034942 NP_004651,NP_001116137,EAW91610,EAW91611,AAC51831,AAC51832,AAH34942,O15523 Hs.99120 DBY protein-coding 1318770 DDX4 DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. 1580863 17486274,15489334,14736746,14702039,12477932,11850529,10920202 54514 NM_024415,AC016632,AC016639,CH471123,AF262962,AK093439,AK292417,AL137462,AY004154,BC030638,BC047455,BC088362 AAH88362,Q9NQI0,NP_077726,EAW54929,AAF72705,BAF85106,CAB70750,AAF86585,AAH47455 Hs.223581 GDB:11505886 MGC111074|VASA protein-coding 1323380 DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression. 1580863 17353931,10607561,17081983,16565220,15690390,15635413,15489334,15302935,14702039,12477932,11991638,9373149,8125298 51428 NM_016222,AC145098,CH471195,CQ859814,AF195417,AK001255,AK026117,AK027768,AK091545,AK091774,AK092585,AK222598,AL137455,BC015476,BC067902,BX641072,CR606489,CR614266,CR614346,CR618460 NP_057306,EAW84977,EAW84978,EAW84979,EAW84980,EAW84981,CAH25957,AAF04150,BAA91585,BAB55355,BAD96318,CAB70746,AAH15476,CAE46035,Q53HI2,Q9UJV9 Hs.484288 ABS|MGC8828 protein-coding 1312619 DDX42 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. 17081983,16397294,15489334,15345747,14702039,12477932,12234937,10727850 11325 NM_007372,NM_203499,AC015651,CH471109,AB036090,AF083255,AK001964,AK095772,AK122737,AK126480,AK292908,AL050096,AL527653,AL545851,BC008208,BC015505,BC078667,BC093081,BK000566,CR606414,CR617579 NP_031398,NP_987095,EAW94276,EAW94277,EAW94278,BAC66466,AAC32396,BAF85597,CAB43268,AAH08208,AAH15505,AAH78667,AAH93081,DAA00077,Q86XP3 Hs.702010 FLJ43179|RHELP|RNAHP|SF3b125 protein-coding 1345973 DDX43 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. 1580863 10919659,11256614,17296563,16381901,15489336,15489334,12890744,12477932,11230166,11076863 55510 NM_018665,AC019205,CH471051,AJ278110,AL136751,BC056879,BC066938 NP_061135,EAW48770,CAB92442,CAB66685,AAH66938,Q0JSY8,Q9NXZ2,CAL38376 Hs.125507 DKFZp434H2114|HAGE protein-coding 734266 DDX46 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. 1580863 17081983,15489334,15302935,14713954,12477932,12234937,9872452,8889548,16189514 9879 AC010301,CH471062,AB018344,AF106680,AI003503,AK058058,NM_014829,AK126011,AK291788,BC012304,BC030755,BC105598,BF244218,BK000565,CA314463,CB052404,BX647426 NP_055644,EAW62238,EAW62239,EAW62240,EAW62241,EAW62242,BAA34521,AAD43033,BAF84477,AAH12304,AAI05599,Q0VGL8,Q7L014,DAA00076 Hs.533245 FLJ25329|KIAA0801|MGC9936|PRPF5 rna helicase protein-coding 1321338 DDX47 DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 11024137,11256614,16381901,15977068,15635413,15489336,15489334,15102925,14702039,12477932,12429849,11230166,11076863,9373149,8125298 51202 NM_201224,AC007215,CH471094,AF078843,AF190165,AJ276704,AK054574,AK222940,AK225144,AL136666,AL833469,BC009379,BC068009,CR599748,CR609545,CR613162,CR619384,CR620828,CR621488,CR621735,NM_016355,CR623905,CR623990,EF036507 NP_057439,NP_957518,EAW96277,EAW96281,EAW96283,AAF23354,AAQ13709,CAC14786,BAB70762,BAD96660,CAB66601,AAH09379,AAH68009,ABO65093,A0AVN6,Q0JSC4,Q0JTG4,Q53GJ1,Q7Z4B1,Q9H0S4,Q9H4E3,Q9UI98,CAL38198,CAL38590 Hs.504828 DKFZp564O176|E4-DBP|FLJ30012|HQ0256|MSTP162 protein-coding 1322415 DDX49 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 1580863 15489334,15057824,14702039,12477932,11790298,9373149,8125298 54555 NM_019070,AC002985,CH471106,AK001294,AK223294,AK291916,AL110272,AL137702,BC000979,BC002674,BX647408,CR591567,CR598806,CR604480,CR605029,CR605206,CR605744,CR609065,CR612560,CR623471,CR625335 NP_061943,AAB81544,EAW84758,EAW84759,EAW84760,EAW84761,BAA91606,BAD97014,BAF84605,CAH10729,CAH10707,AAH00979,AAH02674,Q69YV6,Q9BVQ8,Q9NVY6,Q9Y6V7 Hs.143187 FLJ10432|R27090_2 protein-coding 1345493 DDX5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. This gene consists of 13 exons, and alternatively spliced transcripts containing several intron sequences have been detected, but no isoforms encoded by these transcripts have been identified. 1580863 1996094,17220478,17353931,2451786,18005418,17724023,17699760,17540040,17384675,17369852,17018282,16697732,15950181,15927448,15782174,15660129,15635413,15592455,15489334,15464984,15304501,15298701,14702039,12738788,12665590,12527917,12477932,12101238,11991638,11790298,11279182,11250900,10837141,10648785,7774924,7525583,2762324,2349099,10409727,14743216,15113910,12595555 1655 NM_004396,AC138744,AF015812,AJ010931,CH471109,AB209919,AK055995,BC016027,BT006943,BX571764,CR607012,X15729,X52104 NP_004387,AAB84094,CAA09408,EAW94202,EAW94203,BAD93156,AAH16027,AAP35589,CAE11890,CAA33751,CAA36324,P17844,Q59E92,Q7Z2V5,ABM81613,ABM84700 Hs.279806 GDB:120747 DKFZp686J01190|G17P1|HLR1|HUMP68|p68 protein-coding 1322118 DDX50 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. 1580863 17081983,15635413,15489334,12477932,12429849,11891046,11790298,9373149,8125298 79009 NM_024045,AL359844,CH471083,AF334103,AK223297,AL137423,BC000210,BC000272,BC014263,BC018637,CR618753,CR620490 NP_076950,CAH72376,EAW54304,AAK29402,BAD97017,CAB70733,AAH00210,AAH00272,AAH18637,Q53FI9,Q5VX37,Q96N29,Q9BQ39,Q9NTA9,ABM83473,ABM86684 Hs.522984 GU2|GUB|MGC3199|RH-II/GuB protein-coding 2289773 DDX50P1 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 1 11891046 192146 NG_001065,AL121653 RH-II/GuBp1 pseudo 2289771 DDX50P2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 50 pseudogene 2 11891046 166070 NG_001064,AC018452 RH_II/GuBp2 pseudo 1319993 DDX51 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 17081983,15489334,15302935,14702039,12477932,11790298 317781 NM_175066,AC138466,CH471054,AK097078,AL079273,BC012461,BC029279,BC040185,BC063603,CR936870 NP_778236,EAW98543,BAC04942,AAH12461,AAH40185,Q8N8A6,CAI59782 Hs.445168 DKFZp686N2081|MGC42193 protein-coding 1349454 DDX52 DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 1580863 16344560,15635413,15489334,14702039,12477932,12429849,11790298,11124703 11056 NM_007010,NM_152300,AC091199,CH471199,AB208938,AF077033,AJ010840,AK001245,AK001652,AK025721,AK027425,AK093661,AU132775,BC006489,BC012557,BC041785,BG777332,BX492013,CR613865 NP_008941,NP_689513,EAW57599,EAW57600,EAW57601,BAD92175,AAD27766,CAA09374,BAA91812,BAC04214,AAH41785,Q59H21,Q9Y2R4 Hs.590937 ROK1 protein-coding 1604977 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 17341616,17028776,15489334,12849980,12477932,11922625 168400 JC7831 NM_182699,AC117517,CH471074,AY039237,BC051703,BC067878 NP_874358,EAW98990,AAK72102,AAH51703,AAH67878,JC7831,Q86TM3 Hs.434416 CAGE protein-coding 1354287 DDX54 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. 1580863 12466272,17081983,16260042,15635413,15489334,12477932,12429849,11790298 79039 NM_024072,NM_001111322,AC089999,CH471054,AF478457,AY148094,BC001132,BC001848,BC005848 NP_076977,NP_001104792,EAW98039,EAW98040,AAL85336,AAN59978,AAH01132,AAH01848,AAH05848,Q8TDD1,Q9BQ57,Q9Y5L6,AAI56670 Hs.506861 DP97|MGC2835 protein-coding 1323439 DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been confirmed. 1580863 15635413,15489334,12477932,10997877,1552844 57696 NM_020936,AC055713,AC117503,CH471054,AB046815,AK074219,AK131442,AL833756,BC030020,BC035911,BU619784,CR591246 Q8IYH0,NP_065987,EAW98419,EAW98420,EAW98421,EAW98422,EAW98423,BAB13421,BAB85021,BAD18588,CAH56233,AAH30020,AAH35911,Q6ZMY7,Q8NHQ9,Q8TEC9 Hs.286173 FLJ16577|KIAA1595|MGC33209 protein-coding 1349129 DDX56 DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. 1580863 10749921,15231747,15635413,15489334,14702039,12690205,12477932,12429849,11891046,11790298,11230166,9373149,8125298,17353931 54606 NM_019082,AC004938,CH236960,CH471128,AF247666,AJ131712,AK022774,AK125595,AK222662,AL136700,BC001235,BM787430,CR457213,CR589971,CR596036,CR596212,CR601138,CR610592,CR614921,CR618912,CR620751,CR623928,CR625237 NP_061955,EAL23752,EAW61093,EAW61094,EAW61095,AAG36876,CAB87992,BAB14238,BAD96382,CAB66635,AAH01235,CAG33494,Q53HB9,Q6IAE2,Q9NY93,ABM82141,ABM85324 Hs.654762 DDX21|NOH61 protein-coding 1319812 DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. 1580863 16177806,18258269,18250407,18242112,18214119,18021446,17911629,17878351,17600090,17541283,17307033,17190814,17182220,17079289,17038590,17038589,16946700,16797201,16707574,16585524,16306043,16188996,16182584,16153868,16127453,16125763,16116171,16009940,15767399,15737993,15708988,15612946,15370293,15297736,15219805,15208624,15181474,15164053,14702039,12477932,11890704 23586 NM_014314,AL161783,AL353671,CH471071,AA862613,AF038963,AK023661,AK125989,AL137608,BC070029,BC107731,BC132786,BC136610,BX647917,DN998145 O95786,Q3B797,NP_055129,CAH72600,CAH71251,EAW58547,EAW58548,AAD19826,CAB70840,AAI07732,AAI32787,AAI36611,CAI46068 Hs.190622 DKFZp434J1111|DKFZp686N19181|FLJ13599|RIG-I protein-coding 1606490 DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 11256614,16710414,16381901,15489336,15489334,12477932,11230166,11076863 83479 NM_031306,NM_001031725,AL445483,CH471067,AL136611,BC014183,BC020201,BC041801,BU754283,CR607985,DB483119 NP_112596,NP_001026895,CAI17050,CAI17051,CAI17054,CAI17056,CAI17057,EAW91318,EAW91319,CAB66546,AAH14183,AAH41801,Q0JSU1,Q0JT35,Q5T1V5,Q5T1V6,CAL38329,CAL38423 Hs.497332 DKFZP564B1023|RP11-92G12.2|ZNHIT5 protein-coding 1349712 DDX6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. 1580863 16756390,16699599,16611246,16364915,16344560,15489334,14702039,14684915,12823589,12477932,11839790,10360675,10319407,8816452,7614484,1394235,1579499,17392519,17353931 1656 NM_004397,AP002954,AP004609,CH471065,AI265778,AK093657,BC026228,BC039826,BC065007,D17532,DA993470,Z11685 NP_004388,EAW67412,EAW67413,AAH39826,AAH65007,BAA04482,P26196,Q8IV96 Hs.654366 GDB:132676 FLJ36338|HLR2|P54|RCK protein-coding 1604355 DDX60 DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 14702039,12477932,9373149 55601 NM_017631,AC068989,AC093888,CH471056,CQ888129,AK000042,AK001649,AK026333,AK223184,AK225191,AL137464,BC007820,BC020601,BC038115,BC074781,BX648655,CR620318 NP_060101,EAX04806,EAX04807,EAX04808,EAX04809,CAH61673,BAA90901,BAA91809,BAB15451,BAD96904,CAB70751,AAH07820,AAH20601,AAH38115,AAH74781,CAE46197,Q53FU7,Q6B0F7,Q6MZF7,Q8IY21,Q9H616,Q9NT91,Q9NXV7 Hs.591710 FLJ10787|FLJ20035 protein-coding 2289775 DDX60L DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 16344560,14702039 91351 NM_001012967,AC079926,AC093888,AK023530,AK023743,AK055595,AK092461,AK096369,AL832950,CR933601,DA553350,EB710202 NP_001012985,BAB70966,CAI45925,Q5H9U9 Hs.535011 DKFZp781D1175|FLJ13468|FLJ31033|FLJ39050 protein-coding 1350251 DDX6P DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 pseudogene 387034 1352368 DDX7 DEAD (Asp-Glu-Ala-Asp) box polypeptide 7 8135819 338453 Q15320 D26528 GDB:344937 731970 DEAF1 deformed epidermal autoregulatory factor 1 (Drosophila) 728204,1580863 9773984,16467535,15489334,15302935,15161925,12477932,11705868,11427895,10521432,9417089,8889548,11751867 728204 10522 NM_021008,AC131934,AP006284,CH471158,AB209831,AF007165,AF049459,AF049460,AF068892,AF068893,AF068894,AF068895,AF068896,AF068897,AK289873,AK291383,BC042135,BC053322,BI463261,BM696110,BQ267366 NP_066288,EAX02370,EAX02371,BAD93068,AAB62704,AAC79676,AAC79677,AAC25714,AAC25715,AAC25716,AAC25717,AAC25718,AAC25719,BAF82562,BAF84072,AAH53322,O75398,Q59EI0 Hs.243994,Hs.448664 GDB:9959014 NUDR|SPN|ZMYND5 deaf-1 related transcriptional regulator (nudr) protein-coding 1344007 DEC1 deleted in esophageal cancer 1 The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. 1580863 10612805,18025081,17943723,16462771,16136500,15580306,15164053,14702039,12477932,8603412 50514 NM_017418,AL355601,AL714001,AL731824,CH471090,AB022761,AK056153,BC030567,BC107103 NP_059114,EAW87436,EAW87437,BAA96242,AAH30567,Q8N2T2,Q9P2X7,AAI48553,AAI53140 Hs.148841 CTS9 protein-coding 733605 DECR1 2,4-dienoyl CoA reductase 1, mitochondrial This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. 1580863 7818482,16421571,15629123,15531764,15489334,12477932,12397064,11591162,10497069,10318788,9403065,8993540,8300563,7263650,1859445,1495956 1666 NM_001359,AC004612,AF049895,AF069291,CH471060,U78302,BC105080,BC105082,CR590746,L26050,U49352 NP_001350,AAC14671,AAC62233,EAW91662,EAW91663,EAW91664,AAB88724,AAI05081,AAI05083,AAA67551,AAB09423,Q16698,Q7LDK6 Hs.492212 GDB:453934 DECR|NADPH protein-coding 735964 DECR2 2,4-dienoyl CoA reductase 2, peroxisomal 1580863 17081983,15616553,15489334,14702039,12477932,11514237,11157797,9373149,8125298 26063 NM_020664,AE006463,AL023881,CH471112,AJ293009,AK055839,AK094340,AK128012,AK225961,AL442076,BC010740,BC011968,BC030226,CR595072,CR597611,CR611773,CR618240,CR620920 NP_065715,AAK61231,CAB92744,CAI95592,EAW85811,EAW85812,EAW85813,EAW85814,EAW85815,EAW85816,CAC05664,BAC87232,CAC09442,AAH10740,AAH11968,Q4VXZ8,Q9H3W9,Q9NUI1 Hs.655999 GDB:10795378 PDCR 2-4-dienoyl-coenzyme a reductase 2, peroxisomal protein-coding 731723 DEDD death effector domain containing This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. 734998 15688372,9774341,9832420,16710414,15489334,14702039,12527898,12477932,12235123,11965497,11753564,11741985,17353931,16189514 734998 9191 AF064605,AF083236,AF100341,AJ010973,AK001497,AK022531,BC013910,BC016724,BG565440,CR536556,CR596035,CR597847,CR612611,CR619646,CR625264,NM_001039711,NM_032998,NM_001039712,AL591806,CH471121,AF043733 AAC17110,AAC33105,AAD16414,CAA09445,AAH13910,AAH16724,CAG38793,O75618,Q5SY60,NP_001034800,NP_127491,NP_001034801,CAI15381,CAI15382,EAW52648,EAW52649,EAW52650,EAW52651,EAW52652,EAW52653,AAC80280 Hs.517342 GDB:9955202 CASP8IP1|DEDD1|DEFT|FLDED1|KE05 death effector domain-containing protein protein-coding 1353632 DEDD2 death effector domain containing 2 11741985,16303743,15489334,12527898,12477932,12235123,11965497 162989 NM_133328,AC006486,AC010247,AC098778,CH471126,AF443591,AF457575,AK075328,AK130203,AY125488,BC013372,BC027930,CR590827,CR593642,CR599685,CR604307,CR619301,CR625070 NP_579874,EAW57110,EAW57111,EAW57112,AAL48220,AAM10835,BAC11551,AAM95240,AAH13372,AAH27930,Q8WXF8 Hs.515432 FLAME-3 protein-coding 1317434 DEF6 differentially expressed in FDCP 6 homolog (mouse) DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM] 17121847,16189514,15023524,14702039,12923183,12651066,12648457,12477932 50619 AK093613,AL110182,AY241694,BC007702,BC017504,CR624997,NM_022047,CH471081,Z97832,AJ276095 AAO91767,Q8WVV3,Q9H4E7,NP_071330,EAX03821,EAX03822,EAX03823,EAX03824,CAI20190,CAI20191,CAC08450 Hs.15476 GDB:11500523 IBP|SLAT protein-coding 1603215 DEF8 differentially expressed in FDCP 8 homolog (mouse) 14702039,12477932,9373149,8889548 54849 NM_207514,AC092143,CH471184,AK000193,AK055099,AK095051,AK096485,AK131370,AK225539,AL157465,BC015482,BC105592,BC130482,NM_017702,BM546034,BM712309,BX474773 NP_060172,NP_997397,EAW66667,EAW66668,BAA91000,BAC04802,BAD18521,AAH15482,AAI05593,Q6ZN54 Hs.62771 FLJ20186|MGC104349 protein-coding 1350464 DEFA1 defensin, alpha 1 Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. It differs from defensin, alpha 3 by only one amino acid. 1580863 18191790,18003664,17703413,17635867,17606342,17531545,17448537,16837860,16817779,16709851,16700921,16246847,15944200,15772169,10914484,15719067,15489334,15340161,15208269,12913926,12871849,12823617,12767998,12710851,12492457,12488509,12477932,12378798,12351674,12060767,9444979,9402371,9030614,8915011,8530462,8477861,8476558,8325384,8080882,7873202,4056036,3370315,3174637,2997278,2918759,2917986,2793180,2045096,2019582,2006422,1445873,1445872,1339298,17132727,15620707,16189514 1667 NM_004084,AF200455,AF233439,AF238378,L12690,BC069423,BC093791,BC112188,M21130,M26602,X52053 NP_004075,AAT68878,AAT68879,AAT68880,AAT68883,AAA36382,AAH69423,AAH93791,AAI12189,AAA52302,AAA52303,CAA36280,P59665,Q6EZF6,ABM92162,ABM92163,ABM87797 Hs.380781 GDB:120745 DEF1|DEFA2|HNP-1|HP-1|MGC138393|MRS defensin, alpha 1, myeloid-related sequence protein-coding 1347707 DEFA10P defensin, alpha 10 pseudogene 15494476 449493 NG_005909,AY746435 Hs.552564 defensin, alpha 10, pseudogene pseudo 1603418 DEFA11P defensin, alpha 11 pseudogene 15588320,15494476 724068 NG_005694,AF238378,AY746436 Hs.690600 DEFAP3 pseudo 1345125 DEFA3 defensin, alpha 3, neutrophil-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. It differs from defensin, alpha 1 by only one amino acid. 1580863 18154640,18003664,17845323,17531545,17214878,16837860,16700921,15944200,15489334,15208269,15004048,12913926,12871849,12710851,12477932,12375270,12351674,10914484,8530462,8477861,8476558,8325384,8080882,4056036,3174637,2997278,2918759,2917986,2006422,1339298,17132727,15620707 1668 NM_005217,AF200455,AF238378,L12691,BC027917,BC119706,M21131,M23281,X13621 NP_005208,AAT68881,AAT68885,AAB57722,AAH27917,AAI19707,AAA35753,AAA52304,CAA31952,P59666,Q6EZE9,ABW03625 Hs.654448 GDB:136416 DEF3|HNP-3|HNP3|HP-3 protein-coding 1353794 DEFA4 defensin, alpha 4, corticostatin Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. 1580863 17088326,12477932,8469233,2843187,2501794,2500436,17132727,15620707 1669 NM_001925,AF200455,AF233439,CH471153,U18745,BC093959,BC106747,BC112091,X65977 NP_001916,AAT68877,EAW80486,AAA64488,AAH93959,AAI06748,AAI12092,CAA46792,P12838,Q6EZF8 Hs.591391 GDB:138312 DEF4|HNP-4|HP-4|HP4|MGC120099|MGC138296 protein-coding 1345754 DEFA5 defensin, alpha 5, Paneth cell-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. 1580863 18394979,18258845,18191790,17250830,17088326,15489334,12660734,12477932,12021776,9588893,9169779,8808285,8626737,1429669 1670 NM_021010,AF238378,CH471153,M97925,BC069690,BC107079 NP_066290,AAT68886,EAW80489,AAA35754,AAH69690,AAI07080,Q01523 Hs.655233 GDB:136415 DEF5|HD-5|MGC129728 protein-coding 1343817 DEFA6 defensin, alpha 6, Paneth cell-specific Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. 1580863 17088326,15613481,15489334,12477932,8808285,8626737,8417977 1671 NM_001926,AF200455,AF205406,AF233439,AF314060,CH471153,U33317,BC069667,BC069710,BC069728,BC069769,BC093951,BC093953,M98331 NP_001917,AAT68876,EAW80484,AAC50382,AAH69667,AAH69710,AAH69728,AAH69769,AAH93951,AAH93953,AAB59357,Q01524,Q6EZF9 Hs.711 GDB:136838 DEF6|HD-6 protein-coding 1352494 DEFA7P defensin, alpha 7 pseudogene 15588320,15494476 724067 NG_005908,AF238378,AY746432 AAT68882 Hs.690601 DEFA7 pseudo 1349881 DEFA8P defensin, alpha 8 pseudogene 15588320,15494476 449491 NG_005044,AF195487,AF233439,AY746433 Hs.627154 DEFAP1 defensin, alpha 8, pseudogene pseudo 1347789 DEFA9P defensin, alpha 9 pseudogene 15588320,15494476 449492 AY746434 Hs.552565 DEFAP2 defensin, alpha 9, pseudogene pseudo 737379 DEFB1 defensin, beta 1 Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. 18059266,12728165,12727027,12695553,12537649,12477932,12381917,12153515,12149255,12054642,12010514,11829455,11741980,11714914,11486002,11453504,11442756,11148522,11023262,10879797,10456939,10338476,10223729,10213993,9875146,9541493,9268634,9070620,9038346,8889548,7667395,7628632,10521347,12517831,17960157,17943629,17921115,17760820,17508030,17415576,17361499,17187760,17108702,17071614,16984277,16741514,16700921,16572527,16512757,16435024,15829297,15820309,15696078,15489334,15383276,15382127,15322010,15317821,15242954,14707135,14703118 1672 NM_005218,AB102694,AF205406,AF233439,CH471153,U50930,U50931,BC033298,BC047677,BM673094,U73945,X92744,Z50788 NP_005209,BAC56888,EAW80482,AAC51728,AAH33298,AAH47677,AAB49758,CAA63405,CAA90650,P60022,Q86SQ8 Hs.32949 GDB:677453 BD1|DEFB-1|DEFB101|HBD1|MGC51822 defensin beta 1 protein-coding 1344949 DEFB103A defensin, beta 103A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103B, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense. 1580863 18180295,18167348,18006661,17460726,17415576,17015038,17007044,16954397,16741514,16634647,16034119,15934078,15829297,15820309,14981906,14714554,14703118,12892899,12840147,12825122,12727027,12477932,12375270,12013554,11741980,11714836,11702237,11523142,11223260,11085990,11076863 55894 NM_018661,AC130360,AB037972,AF217245,AF295370,AF301470,AF516673,AJ237673,AY785153 NP_061131,BAB40572,AAF73853,AAG02237,AAG22030,AAM62424,CAC03097,AAV41025,P81534,Q5U7J2,AAI11597 Hs.283082,Hs.637221 DEFB103|DEFB3|HBD-3|HBD3|HBP-3|HBP3 protein-coding 1354414 DEFB103B defensin, beta 103B 11085990,11223260 414325 NM_001081551,AC130365,AF252830,AF285443,AB037972,AF217245,AF295370,AF301470,AF516673,AJ237673,AY785153 NP_001075020,BAB40572,AAF73853,AAG02237,AAG22030,AAM62424,CAC03097,AAV41025,P81534,AAI48675 Hs.283082,Hs.637221,Hs.711139 protein-coding 1352811 DEFB104A defensin, beta 104A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. 1580863 16033865,15820309,15727258,15588320,15489334,12916016,12734011,12477932,12193721,11854508,11481241 140596 NM_080389,NG_005590,AC084121,AC130365,AJ314835,AJ314834,BC100848,BC100849,BC100850,BC100851 NP_525128,CAC85520,CAC85511,AAI00849,AAI00850,AAI00851,AAI00852,Q8WTQ1 Hs.559507 GDB:11505888 BD-4|DEFB-4|DEFB104|DEFB4|MGC118942|MGC118944|MGC118945|hBD-4 defensin, beta 104 protein-coding 1605472 DEFB104B defensin, beta 104B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104B, represents the more telomeric copy. 16033865,15727258,15588320,12916016,12734011,12193721,11854508,11481241 503618 NM_001040702,NG_005589,AC130360,AJ314834,BC100848,BC100849,BC100850,BC100851 NP_001035792,CAC85511,AAI00849,AAI00850,AAI00851,AAI00852 Hs.559507,Hs.706713 protein-coding 1344017 DEFB105A defensin, beta 105A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy. 1580863 16033865,15727258,15588320,12916016,12734011,12477932,12193721,11854508 245908 NM_152250,NG_005590,AC084121,AB089180,AF540977,BC128437,BC128438 NP_689463,BAC10630,AAN33113,AAI28438,AAI28439,Q8NG35 Hs.381378 GDB:11505890 BD-5|DEFB-5|DEFB105 defensin, beta 105 protein-coding 1604132 DEFB105B defensin, beta 105B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. 16033865,15727258,15588320,12916016,12734011,12477932,12193721,11854508 504180 NM_001040703,NG_005589,AC134684,AB089180,AF540977,BC128437,BC128438 NP_001035793,BAC10630,AAN33113,AAI28438,AAI28439,Q8NG35 Hs.381378 protein-coding 1347359 DEFB106A defensin, beta 106A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106A, represents the more centromeric copy. 1580863 16033865,15727258,15588320,15489334,12916016,12734011,12600824,12477932,12193721,11854508 245909 NM_152251,NG_005590,AC084121,AC134684,AB089181,AF529417,AF540978,AY122466,BC100844,BC100845,BC100846,BC100847,BC110062,BC111688 NP_689464,BAC10631,AAQ09526,AAN33114,AAM93908,AAI00845,AAI00846,AAI00847,AAI00848,AAI10063,AAI11689,Q8N104,AAI41478 Hs.535925 GDB:11505892 BD-6|DEFB-6|DEFB106|MGC118938|MGC118939|MGC118940|MGC118941|MGC133011|MGC133012 defensin, beta 106 protein-coding 1604881 DEFB106B defensin, beta 106B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. 16033865,15727258,15588320,12916016,12734011,12193721,11854508 503841 NM_001040704,NG_005589,AC130360,AC134684,AB089181,AF529417,AF540978,AY122466,BC100844,BC100845,BC100846,BC100847,BC110062,BC111688 NP_001035794,BAC10631,AAQ09526,AAN33114,AAM93908,AAI00845,AAI00846,AAI00847,AAI00848,AAI10063,AAI11689 Hs.511958,Hs.535925 protein-coding 1343991 DEFB107A defensin, beta 107A Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. 1580863 16033865,15727258,15588320,12916016,12734011,12193721,11854508 245910 NM_001037668,NG_005590,AC084121,AF540979,AY122467,DQ119826 NP_001032757,AAN33115,AAM93909,AAZ81951,Q8IZN7 Hs.520874 GDB:11505894 BD-7|DEFB-7|DEFB107 protein-coding 1602611 DEFB107B defensin, beta 107B Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. 16033865,15727258,15588320,12916016,12734011,12193721,11854508 503614 NM_001040705,NG_005589,AC134684,AF540979,AY122467,DQ119826 NP_001035795,AAN33115,AAM93909,AAZ81951,Q8IZN7,AAI48566,AAI56677 Hs.520874,Hs.706712 HsT21816 protein-coding 1606420 DEFB108B defensin, beta 108B 12734011,12600824,11854508 245911 NM_001002035,AP002495,AF529416,AY122468 NP_001002035,AAQ09525,AAM93910,Q8NET1,AAI40260,AAI41634 Hs.555032 protein-coding 1605453 DEFB108P1 defensin, beta 108, pseudogene 1 12734011,11854508 503694 NG_005426,AC130365,AC131269,AF540980 AAN33116 Hs.583890 GDB:11505896 DEFB-8|DEFB108|DEFB108A pseudo 2289876 DEFB108P2 defensin, beta 108, pseudogene 2 12734011,11854508 503837 NG_007389,AC130360 pseudo 2289882 DEFB108P3 defensin, beta 108, pseudogene 3 12734011,11854508 504185 NG_007390,AC130366 pseudo 2289875 DEFB108P4 defensin, beta 108, pseudogene 4 12734011,11854508 503840 NG_007391,AC087203 pseudo 1351347 DEFB109P1 defensin, beta 109, pseudogene 1 12600824,11854508 245912 AF540981,AW383156 Hs.521405 GDB:11505898 DEFB-9|DEFB109|DEFB109A pseudo 1348391 DEFB110 defensin, beta 110 16033865,11854508 245913 NM_001037728,AL138879,DQ012014 NP_001032817,AAY59750,Q30KR0,AAI41479,AAI48764 Hs.571093 GDB:11505900 DEFB-10 protein-coding 1350254 DEFB111 defensin, beta 111 16033865,11854508 245914 NM_001037497,AL138879,DQ012015 NP_001032586,AAY59751,Q30KQ9,AAI48542,AAI56745 Hs.571093 GDB:11505902 DEFB-11 protein-coding 1353566 DEFB112 defensin, beta 112 16033865,11854508 245915 NM_001037498,AL138879,CH471081,AY122469,DQ012016 NP_001032587,EAX04351,AAM93911,AAY59752,Q30KQ8,AAI41480,AAI48765 Hs.571092 GDB:11505904 DEFB-12 protein-coding 1346729 DEFB113 defensin, beta 113 16033865,11854508 245927 NM_001037729,AL138879,DQ012017 NP_001032818,AAY59753,Q30KQ7,AAI41481,AAI53176 Hs.582789 GDB:11505906 DEFB-13 protein-coding 1348589 DEFB114 defensin, beta 114 16033865,11854508 245928 NM_001037499,AL138879,AY122470,DQ012018 NP_001032588,AAM93912,AAY59754,Q30KQ6,AAI56852 Hs.381372 GDB:11505908 DEFB-14 protein-coding 1351953 DEFB115 defensin, beta 115 16033865,11854508,11780052 245929 NM_001037730,AL121723,DQ012019 NP_001032819,AAY59755,Q30KQ5,AAI52827 Hs.580793 GDB:11505910 DEFB-15 protein-coding 1344787 DEFB116 defensin, beta 116 16033865,11854508,11780052 245930 NM_001037731,AL031650,DQ012020 NP_001032820,AAY59756,Q30KQ4,AAI48546,AAI53135 Hs.580703 GDB:11505912 DEFB-16 protein-coding 1352229 DEFB117 defensin, beta 117 16033865,11854508 245931 DQ012021 AAY59757,Q30KQ3 Hs.580702 GDB:11505914 DEFB-17 protein-coding 1344518 DEFB118 defensin, beta 118 1580863 11564719,10588992,15489334,15033915,12600824,12477932,11854508,11780052 117285 NM_054112,AL031650,CH471077,AF347073,AF529415,AY122471,BC035677,BC117378 NP_473453,CAI18885,EAW76452,EAW76453,AAL27987,AAQ09524,AAM93913,AAI17379,Q96PH6 Hs.274124 GDB:11505246 C20orf63|DEFB-18|ESC42|dJ1018D12.3 protein-coding 1606419 DEFB119 defensin, beta 119 15489334,12975309,12477932,12128228,11854508,11790538,11786250,11780052 245932 NM_153289,NM_173460,NM_153323,AL031650,AL121751,CH471077,AF479698,AF479699,AY122472,AY122473,AY358860,AY501001,BC062212,BI460707 NP_695021,NP_775689,NP_697018,CAI18883,CAI18884,CAI19147,CAI19148,CAI19149,EAW76448,EAW76449,EAW76450,EAW76451,AAQ05837,AAQ05838,AAM93914,AAM93915,AAQ89219,AAS87295,AAH62212,Q5GRG0,Q5GRG1,Q5TH42,Q8N690 Hs.516998 GDB:11505916 DEFB-19|DEFB-20|DEFB120|ESC42-RELA|ESC42-RELB|MGC71893 protein-coding 1344288 DEFB121 defensin, beta 121 15772680,11854508,11780052 245934 NM_001011878,AL121751,AF479700,AY501000,BC130607,BC130609 NP_001011878,AAQ05839,AAS87294,AAI30608,AAI30610,Q5GRF9,Q5J5C9 Hs.272294 GDB:11505920 DEFB-21|ESC42-RELC protein-coding 1354400 DEFB122 defensin, beta 122 15772680,11854508 245935 NR_002577,AL121751,AY122474 Hs.526624 GDB:11505922 DEFB-22 pseudo 1351372 DEFB123 defensin, beta 123 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. 1580863 12975309,12477932,11854508,11780052 245936 NM_153324,AL121751,CH471077,AF479701,AY122475,AY358859,BC126365,BC126391 NP_697019,CAI19150,EAW76445,EAW76446,AAQ05840,AAM93916,AAQ89218,AAI26366,AAI26392,Q5GRF8,Q8N688 Hs.122509 GDB:11505924 DEFB-23|ESC42-RELD protein-coding 1347867 DEFB124 defensin, beta 124 1580863 16033865,11854508,11780052 245937 NM_001037500,AL121751,AY122476,DQ119827 NP_001032589,AAM93917,AAZ81952,Q8NES8,AAI56854 Hs.381373 GDB:11505926 DEFB-24 protein-coding 1342634 DEFB125 defensin, beta 125 Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. 1580863 12620395,11854508,11780052 245938 NM_153325,AL360078,CH471133,CS072337,AA935636,AF525927,AY122477,BC128195,BC128196 NP_697020,CAI15186,EAX10689,CAI93475,AAP47220,AAM93918,AAI28196,AAI28197,Q8N687 Hs.380220 GDB:11505928 DEFB-25|MGC57449 protein-coding 1352735 DEFB126 defensin, beta 126 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. 1580863 15489334,12620395,12477932,11854508,11780052,10491631,9373149,8125298 81623 NM_030931,AL360078,CH471133,AF525928,AJ236910,AK225987,AY122478,BC069294,BX108307 NP_112193,CAC17684,EAX10688,AAP47221,CAC27121,AAM93919,AAH69294,Q9BYW3 Hs.124211 GDB:11505007 C20orf8|DEFB-26|DEFB26|ESP13.2|bA530N10.1|hBD-26 protein-coding 1343760 DEFB127 defensin, beta 127 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. 1580863 10588992,15489334,15340161,12975309,12620395,12477932,11854508,11780052 140850 NM_139074,AL360078,CH471133,AF525929,AY122479,AY358796,BC069486,BC109395,BC110085 NP_620713,CAC17685,EAX10687,AAP47222,AAM93920,AAQ89156,AAH69486,AAI09396,AAI10086,Q14DW6,Q9H1M4 Hs.99362 GDB:11505266 C20orf73|DEF-27|DEFB-27|DEFB27|bA530N10.2|hBD-27 protein-coding 1352295 DEFB128 defensin, beta 128 16033865,11854508 245939 NM_001037732,AL360078,AF525930 NP_001032821,CAI15187,AAP47223,Q7Z7B8 Hs.516818 GDB:11505930 DEFB-28|DEFB28|hBD-28 protein-coding 1347595 DEFB129 defensin, beta 129 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. 1580863 15489334,12975309,12620395,12600824,12477932,11854508,11780052 140881 NM_080831,AL360078,CH471133,AF525931,AF529413,AY122480,AY358186,BC070359 NP_543021,CAC17686,EAX10686,AAP47224,AAQ09522,AAM93921,AAQ88553,AAH70359,Q9H1M3 Hs.112087 GDB:11505288 C20orf87|DEFB-29|DEFB29|bA530N10.3|hBD-29 protein-coding 1350712 DEFB130 defensin, beta 130 16033865,11854508 245940 NM_001037804,AC144830,DQ012022 NP_001032893,AAY59758,Q30KQ2,AAI48524,AAI53119 Hs.581979 GDB:11508940 DEFB-30 protein-coding 1343551 DEFB131 defensin, beta 131 16033865,12600824,11854508 644414 NM_001040448,AC116655,AF529414 NP_001035538,AAQ09523,P59861,AAI60155 Hs.590200 GDB:11508941 DEFB-31 protein-coding 1605783 DEFB132 defensin, beta 32 18416833,12975309,12620395,11780052 400830 NM_207469,AL034548,AF525932,AY358708,AY621329 NP_997352,CAI19174,AAP47225,AAQ89071,AAT51868,Q7Z7B7 Hs.516819 DEFB32|UNQ827 protein-coding 1343807 DEFB132P defensin, beta 132, pseudogene 245942 GDB:11505932 1348474 DEFB133 defensin, beta 133 16033865 403339 DQ012023 AAY59759,Q30KQ1 protein-coding 1348794 DEFB4 defensin, beta 4 Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. 1580863 10521347,18059266,17986621,17928537,17922409,17760820,17415576,17403538,17392834,17298411,17283097,17254301,17000004,16762333,16741514,16909382,16433908,16417227,16319062,16269090,16242370,16219107,16201312,16201065,16097044,16034119,15985221,15829297,15820309,15727258,15661923,15547668,15529375,15502724,15489334,15385474,15382127,15240151,15161058,15013761,15004048,14981906,14963722,14760942,14714554,14703118,14688115,12958190,12892899,12832046,12821122,12710950,12612195,12537649,12522054,12519391,12489997,12488564,12477932,12421237,12411706,12395153,12389997,12381917,12183584,12174890,12063167,12010514,11934878,11751976,11741980,11728477,11714914,11714836,11453504,11442756,11005092,10906336,10837369,10603376,10456937,10404637,10338476,9831658,9825219,9727055,9202117 1673 NM_004942,AC130365,AF040153,AF071216,AJ000152,BC069285,BC093983,BC093985,Z71389 NP_004933,AAC33549,AAC69554,CAB65126,AAH69285,AAH93983,AAH93985,CAA95992,O15263 Hs.105924 GDB:6860470 DEFB-2|DEFB102|DEFB2|HBD-2|SAP1 protein-coding 1625102 DEFB4P defensin, beta 4, pseudogene 728454 XM_001128061,AC130360 XP_001128061 Hs.646758 protein-coding 1342800 DEFB50 defensin beta 50 14659016 492317 AY387658 1345729 DEFQ2P defensin, theta 2, pseudogene 449487 1353061 DEFQ3P defensin, theta 3, pseudogene 449480 1346985 DEFQ4P defensin, theta 4, pseudogene 449485 1350843 DEFQ5P defensin, theta 5, pseudogene 449479 1348526 DEFQ6P defensin, theta 6, pseudogene 449486 1347186 DEFT1P defensin, theta 1 pseudogene 15588320,15019196,12477932,11854483,11790538,11786250,10521339 170949 NG_005042,U10267,AF355799,BC069283 AAL82194,Q8TEZ3 Hs.681792,Hs.690009 DEFQ1|DEFT1 defensin, theta 1 pseudo 1605117 DEGS1 degenerative spermatocyte homolog 1, lipid desaturase (Drosophila) This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. Two splice variants have been identified. 9188692,17353931,17283068,12477932,11937514 8560 NM_003676,NM_144780,AC092809,CH471098,AF002668,AF466375,AY423730,CR599325,CR602386,CR612697,CR612716,CR614089,CR619224,CR623303,BC000961 NP_003667,NP_659004,EAW69711,EAW69712,AAB62238,AAM12531,O15121,AAS00493,AAH00961 Hs.299878 DEGS|DES1|Des-1|FADS7|MGC5079|MIG15|MLD protein-coding 1352357 DEGS2 degenerative spermatocyte homolog 2, lipid desaturase (Drosophila) 15063729,12477932 123099 NM_206918,AL133523,CH471061,AY541700,BC063598 NP_996801,EAW81688,AAS68362,AAH63598,Q6QHC5 Hs.159643 C14orf66|DES2|FADS8 protein-coding 1349075 DEK DEK oncogene (DNA binding) This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene and the presence of antibodies against this protein are all associated with various diseases. 1580863 12140263,9050861,18332104,18227428,17524367,17081983,17030615,16894028,16829531,16809543,16721057,16696975,16461319,16344560,16254365,16180235,16007192,15987677,15908448,15766865,15722484,15692740,15593216,15563827,15489334,15238633,15199154,15199153,15146197,14738146,14627833,14574404,12595566,12483538,12477932,12388720,12031912,11997399,11333257,11118221,11058868,10908574,10837023,9952027,9704652,9684994,9058666,8910362,1549122,1308167,16189514 7913 NM_003472,AL031774,CH471087,AJ270688,AJ420539,AU131262,BC012442,BC035259,CN388433,CR599640,CR623348,CR626065,X64229,BX641063 NP_003463,CAI20082,EAW55402,EAW55403,AAH35259,CAA45536,P35659,Q6MZJ9,CAE46031,ABZ92195 Hs.484813 GDB:9865650 D6S231E protein-coding 1317405 DENND1A DENN/MADD domain containing 1A 737633 17081983,15489334,15164053,14702039,12477932,10997877,9373149,8125298 737633 57706 NM_020946,NM_024820,AC006450,AL158208,AL161790,AL390774,AL445489,CH471090,AB046828,AK024782,AK074151,AK225104,BC009616,BC028061,BC039703,CR626287 NP_065997,NP_079096,EAW87569,EAW87570,EAW87571,EAW87572,EAW87573,EAW87574,EAW87575,BAB13434,BAB15002,BAB84977,AAH09616,AAH28061,AAH39703,Q05C88,Q5VWE8,Q6PJZ5,Q8TEH3,Q9HCG4 Hs.655834 FAM31A|FLJ38464|KIAA1608|RP11-230L22.3 protein-coding 1318210 DENND1B DENN/MADD domain containing 1B 737633 12477932 737633 163486 NM_144977,AL139136,AL365258,CH471067,BC016588,BC022561,BC063456,BC063877,CR622563 NP_659414,CAI15313,CAI15314,CAI15315,CAI14212,CAI14213,CAI14214,CAI14215,EAW91281,AAH16588,AAH22561,AAH63877,Q6P3S1,Q96AX6,ABM83324,ABM86539 Hs.657779 FAM31B|MGC27044|RP11-53I24.2 family with sequence similarity 31, member b protein-coding 1345609 DENND1C DENN/MADD domain containing 1C 737633 14702039,12477932,9373149 737633 79958 NM_024898,AC010503,CH471139,AA521476,AK026410,AK055820,AK225623,AL713770,AL834293,BC033437,BX647304 NP_079174,EAW69080,EAW69081,EAW69082,BAB15475,CAD38966,AAH33437,Q8IV53 Hs.236449 FAM31C|FLJ22757 protein-coding 1314588 DENND2A DENN/MADD domain containing 2A 16344560,15489334,12477932,10574462 27147 NM_015689,AC006452,AC069335,CH236950,CH471070,AB033103,AK290056,BC049193,BC115004,BC132875,DA401015 NP_056504,EAW83954,BAA86591,BAF82745,AAH49193,AAI15005,AAI32876,Q9ULE3 Hs.6385 FAM31D|KIAA1277 protein-coding 1604979 DENND2C DENN/MADD domain containing 2C 12477932,16710414,16344560,15489334,14702039 163259 BX647950,BX649075,CR749576,DB071246,NM_198459,AL096773,AL133382,AL390241,CH471122,AK094418,AK124287,BC063894 CAH18369,Q68D51,Q8N9I3,NP_940861,EAW56605,BAC04351,AAH63894 Hs.654928 DKFZp686G0351|DKFZp686N1631|DKFZp779P1149|FLJ37099|RP5-1156J9.1|dJ1156J9.1 protein-coding 1602459 DENND2D DENN/MADD domain containing 2D 16710414,15489334,14702039,12477932 79961 NM_024901,AL355816,CH471122,AK026110,BC004557,CR590904,CR612515,AL713773 NP_079177,EAW56473,EAW56474,EAW56475,EAW56476,EAW56477,EAW56478,EAW56479,BAB15363,AAH04557,Q8TCN6,Q9H6A0,CAD28535 Hs.557850 FLJ22457|RP5-1180E21.2 protein-coding 1605083 DENND3 DENN/MADD domain containing 3 14702039,12477932,10737800,10048485 22898 NM_014957,AC040970,CH471060,AB020677,AK057136,AK058001,AK091556,AK123283,AK125506,AK131505,AL110264,AL544320,AW500126,BC110827,BC133023,BF898211,CB989310 NP_055772,EAW92216,EAW92217,EAW92218,EAW92219,EAW92220,BAA74893,BAB71630,BAC85573,BAC86185,BAD18649,AAI10828,AAI33024,A2RUS2,Q6ZUN5,Q6ZWD0 Hs.656299 KIAA0870 protein-coding 1349929 DENND4A DENN/MADD domain containing 4A 737633,1580863 8056341,17353931,15489334,15324660,14702039,12906859,12477932,12080043 737633 10260 AK091268,AK091368,AK290292,AL832602,AL833317,AL833384,BC028057,BC041706,X63417,NM_005848,AC011939,AF534403 BAC03648,BAF82981,CAD89960,AAH28057,AAH41706,CAA45013,Q05C90,Q7Z401,ABZ92395,NP_005839,AAQ10514 Hs.654567 FLJ33949|IRLB|KIAA0476|MYCPBP protein-coding 1344276 DENND4B DENN/MADD domain containing 4B 14702039,12906859,11181995,9455484,8325628 9909 XM_001130684,CH471121,AB007945,AK124049,AK129713,XM_375806,NM_014856,AL358472,AK226053,AL512734,L10375 EAW53268,EAW53269,BAA32321,XP_001130684,XP_375806,NP_055671,CAI14016,O75064 Hs.696135 GDB:9958475 DKFZp762N174|FLJ26202|KIAA0476|kiaa0476 protein-coding 1318285 DENND4C DENN/MADD domain containing 4C 17081983,16964243,15164053,15146197,14702039,12906859 55667 NM_017925,AL161909,AL391834,CH471071,AK000627,AK000693,AK001046,AK002020,AK025705,AK125842,AK127734,AL834521,CN427691,CR627367 NP_060395,CAM21138,CAM21139,CAM21140,CAM21141,CAM21148,EAW58644,EAW58645,EAW58646,EAW58647,BAA91294,BAA91324,BAA91478,BAA92039,BAB15221,BAC86313,CAD39177,Q5VZ89,Q9NWQ5,CAH10466 Hs.249591 C9orf55|C9orf55B|DKFZp686I09113|FLJ20686|bA513M16.3 chromosome 9 open reading frame 55 protein-coding 1351149 DENR density-regulated protein This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. 1580863 17878526,15489334,12477932,10497265,9628587 8562 NM_003677,AC026331,AC027290,CH471054,AB014731,AF038554,AF103800,AI093093,BC000925,BC007860,BG705827,BI871385,CR622756 NP_003668,EAW98338,EAW98339,EAW98340,EAW98341,EAW98342,EAW98343,BAB20268,AAC02985,AAF02420,AAH07860,O43583 Hs.22393 GDB:9958939 DRP|DRP1|SMAP-3 protein-coding 1315914 DEPDC1 DEP domain containing 1 14702039,12477932,9373149 55635 AJ278112,AK000361,AK000490,AK022792,AK225735,AL834208,BC003511,BC011743,BC035506,BC041580,BC065304,NM_017779,AL138789,CH471059 EAX06472,EAX06473,EAX06474,EAX06475,EAX06476,EAX06477,CAB92444,BAA91111,BAA91201,BAB14246,CAH10663,AAH03511,AAH65304,Q5TB30,Q69YG3,Q9NXA5,NP_060249,CAI22441,CAI22442,CAI22443,EAX06471 Hs.445098 DEP.8|FLJ20354|SDP35 protein-coding 1314052 DEPDC1B DEP domain containing 1B 737633,1580863 14702039,12477932 737633 55789 NM_018369,AC016591,AC109133,CH471123,AF303178,AF488828,AF490257,AK001166,AK002114,AK290684,BC010904,BC019075 NP_060839,EAW54998,AAN31126,AAO49477,AAO85465,BAA91529,BAA92089,BAF83373,AAH10904,AAH19075,Q8WUY9 Hs.482233 BRCC3|FLJ11252|XTP1 protein-coding 2289757 DEPDC1P1 DEP domain containing 1 pseudogene 1 730888 NG_007041,AC026951 pseudo 2289760 DEPDC1P2 DEP domain containing 1 pseudogene 2 100126446 NG_007042,AL592437 FLJ20483 pseudo 1317307 DEPDC2 DEP domain containing 2 15304343,15897194,15761153,15304342,14702039 80243 NM_024870,NM_025170,AC011853,AC103783,AC104416,AJ437636,AK023049,AK024079,AY508996,AY508997,AY570973,BK005160,BK005161 NP_079146,NP_079446,CAD26885,BAB14375,BAB14818,AAS82571,AAS82572,AAS59407,DAA05333,DAA05334,Q56UR8,Q70Z35,AAI46370,AAI48796 Hs.591867 DEP.2|P-REX2|PREX2 protein-coding 1349120 DEPDC4 DEP domain containing 4 1580863 14702039,12477932 120863 NM_152317,AC026110,CH471054,AK090824,BC015117,BC039480,BC100927,BC100928,BC100929,BC100930 NP_689530,EAW97628,EAW97629,BAC03525,AAH15117,AAI00929,AAI00930,AAI00931,Q3ZCN8,Q8N2C3 Hs.653118 DEP.4|FLJ33505 protein-coding 1323042 DEPDC5 DEP domain containing 5 1580863 15770670,15489334,12477932,10591208,9734811 9681 AB014545,AJ698950,AJ698951,AJ704764,BC057797,BC146766,BM145115,BX640828,CR749304,NM_014662,NM_001007188,AC005004,AL022331,CH471095,Z82190,Z83856 CAI18776,CAI18777,CAI18778,CAI18779,BAA31620,CAG27889,CAG27890,CAG28924,AAH57797,AAI46767,CAE45904,CAH18159,O75140,NP_055477,NP_001007189,AAD08635,CAI17972,CAI17973,CAI17974,CAI17975,CAI17976,EAW59996,EAW59997,EAW59998,EAW59999,CAI19696,CAI19697,CAI19698,CAI19699 Hs.435022 DEP.5|DKFZp779P2027 protein-coding 1344261 DEPDC6 DEP domain containing 6 1580863 11256614,16381901,15489336,14702039,12477932,11230166,11076863,9373149,8125298 64798 NM_022783,AC091563,AP005717,CH471060,AK022490,AK023916,AK225168,AK225675,AL136678,BC012040,BC024746,CR615062 NP_073620,EAW91997,BAB14054,BAB14723,CAB66613,AAH12040,AAH24746,Q8TB45,CAL37454,CAL38211 Hs.112981 DEP.6|DKFZp564B1778|FLJ12428|FLJ13854 protein-coding 1602447 DEPDC7 DEP domain containing 7 12477932,10568747 91614 NM_001077242,NM_139160,AC107939,AC131263,AL121926,CH471064,AF447588,AJ245600,BC011446,BC030970,CR590754,CR610553 NP_001070710,NP_631899,CAC48255,EAW68212,EAW68213,AAM22871,CAB53247,AAH30970,Q96QD5,ABZ92082 Hs.280990 dJ85M6.4 protein-coding 1352250 DERA 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) 1580863 17353931,12546782,12477932,10810093,9373149,8889548,8125298 51071 AF132960,AK024614,AK222541,BC041328,BC056234,CB851336,CR594810,CR597600,CR605473,CR607223,CR608188,CR608624,CR616542,NM_015954,AC022073,CH471094 EAW96358,EAW96359,AAD27735,BAD96261,AAH56234,Q53HN9,Q6PHW2,Q9Y315,AAI52914,NP_057038,EAW96357 Hs.39429 CGI-26|DEOC protein-coding 1346784 DERL1 Der1-like domain family, member 1 1580863 15215855,15215856,16449189,18227067,18048502,17872946,17453418,16954204,16449195,16289116,16186510,16186509,16055502,15489334,14702039,12975309,12477932,9110174,8619474 79139 NM_024295,AC104316,CH471060,CQ859802,AF131854,AK023846,AK124086,AY358818,BC002457,BC037174,BC050691,CR610166 NP_077271,EAW92013,EAW92014,EAW92015,EAW92016,EAW92017,CAH25951,AAQ89177,AAH02457,AAH50691,Q86W39,Q9BUN8,Q9P1C8 Hs.241576 DER-1|DER1|FLJ13784|FLJ42092|MGC3067|PRO2577 protein-coding 1344289 DERL2 Der1-like domain family, member 2 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM] 1580863 15215855,16912321,16449194,16449192,16186509,15489334,12477932,10810093,16449189,11500051 51009 NM_016041,AC004148,CH471108,AF132289,AF151859,AF208065,AF242523,AK024574,BC009549,BC010890,CR457202 NP_057125,EAW90329,AAG43049,AAD34096,AAL14869,AAF99603,AAH10890,CAG33483,Q9GZP9 Hs.286131 CGI-101|F-LAN-1|F-LANa|FLANa protein-coding 1353725 DERL3 Der1-like domain family, member 3 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL3 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM] 737633,1580863 16449189,16449193,16449191,15489334,15461802,15215855,14702039,12477932,10591208,8889548 737633 91319 NM_198440,NM_001002862,AB049213,AP000350,CH471095,AA985493,AK092582,AK096976,AK125830,AL389876,BC057830,BM792257,CA313370,CR456372,T79532 NP_940842,NP_001002862,BAB68409,EAW59609,EAW59610,EAW59611,EAW59612,BAC04919,BAC86311,AAH57830,CAG30258,Q8N8C7,Q96Q80,CAK54508,CAK54807 Hs.593679 C22orf14|IZP6|MGC71803 protein-coding 1347887 DES desmin This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. 1580290,1580863 16545539,16439510,16009553,15759133,15731013,15489334,15468102,14702039,14648196,12686604,12620971,12609507,12477932,12477713,12064939,11694502,11668632,11073539,11061256,10574968,10545598,10510252,10430757,9261168,8792816,8641565,8624579,8186663,7672786,2939097,2673923,2670738,2007603,8997639,8424456,2201025,11353857,12358155,9736733,9697706,9415431,17924085,17872945,17720647,17626518,17436150,17418574,17325244,17188893,16761416 1580290 1674 AC053503,AF189280,AF189281,AY114212,AY816189,AY816190,AY816191,CH471063,DQ301782,M63391,AF055081,AF055082,AF055083,AF137053,AF167579,AF486807,AF487828,AF521879,AF527578,AJ132926,AK022087,AK097038,AK098332,AK123787,AL541778,AY083345,AY125465,BC010072,BC032116,BQ941246,CR617766,DQ104335,DQ104336,DQ104337,EF617312,U59167,NM_001927 NP_001918,AAY15051,AAG43459,AAG43460,AAM47026,AAV64888,AAV64889,AAV64890,EAW70739,EAW70740,EAW70741,ABC33803,AAA99221,AAC39938,AAC39939,AAC39940,AAF15400,AAG41217,AAL93205,AAL99078,AAN15036,AAN37810,CAB62389,AAL99215,AAM95238,AAH32116,AAZ17411,AAZ17412,AAZ17413,ABR08708,AAC50680,P17661,Q2PUK1,Q45VM6,Q45VM7,Q45VM8,Q53SB5,Q549R7,Q549R8,Q549R9,Q5RLN0,Q5RLN1,Q5RLN2,Q9GZR6,Q9H319,ABM83208,ABM86408 Hs.594952 GDB:119841 CMD1I|CSM1|CSM2|FLJ12025|FLJ39719|FLJ41013|FLJ41793 protein-coding 1348990 DET1 de-etiolated homolog 1 (Arabidopsis) 17452440,15489334,14739464,14702039,12477932 55070 NM_017996,AC013489,CH471101,AB073887,AK000965,AK054603,BC001242,BC064591,BC073867,BC109060,BC109061 NP_060466,EAX02003,EAX02004,EAX02005,EAX02006,BAA91447,AAH01242,AAI09061,AAI09062,Q7L5Y6 Hs.567523 FLJ10103|MGC126156|MGC126157 protein-coding 1603056 DEXI dexamethasone-induced transcript 15489334,12477932,11306815,10332034 28955 NM_014015,AC133065,CH471112,AF108145,AF129929,BC001083,BC037569,BC052989,BC071683,CR590912,CR596795,CR599313,CR607364,CR611608 NP_054734,EAW85166,EAW85167,AAC83382,AAH01083,AAH37569,AAH52989,AAH71683,O95424,ABM81712,ABM84868 Hs.592051 MYLE protein-coding 1606338 DFFA DNA fragmentation factor, 45kDa, alpha polypeptide Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 9108473,17353931,15572351,9564035,17945178,17938174,17645689,16964243,16950395,16619042,16432220,16344560,16189514,15489334,15324660,14675622,12748178,12477932,12467059,12181128,12144788,11929840,11870543,11752060,11406587,11371636,11004695,10976014,10932250,10619428,10527861,10527860,10497265,10409614,10318789,9605855,9422506,9373149,8125298,12404116 1676 CH471130,AF087573,AF103799,AK222546,AU121791,BC000037,BC007112,BC007721,BE207821,BT006980,BU956486,CR596851,CR603712,U91985,NM_213566,NM_004401,AL354956 CAI19196,CAI19197,EAW71655,EAW71656,EAW71657,EAW71658,AAD32953,AAF02419,BAD96266,AAH00037,AAH07112,AAH07721,AAP35626,AAC51249,O00273,Q53HN4,Q5T6G5,Q5T6G6,NP_998731,NP_004392 Hs.484782 GDB:9315112 DFF-45|DFF1|ICAD protein-coding 731033 DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of these variants has not been determined. 1580863 9108473,17938174,17492772,17239993,16699957,16529748,16204257,16156899,16121124,16049016,16007181,15910001,15703174,15569712,15489334,15149602,15147901,14759258,12748178,12738667,12610505,12477932,11371636,10932250,10830907,10619428,10527861,10527860,10409614,9689044,9560346,9422506,12404116,17353931,9671700,10959840,15572351 1677 NM_004402,AL691523,CH471130,AB013918,AB028911,AB028912,AB028913,AF039210,AF064019,AF409060,AF409061,AF409062,AK290877,AY438267,AY438268,BC032827,BC048797 NP_004393,CAI17371,CAI17372,EAW71485,EAW71486,EAW71487,EAW71488,EAW71489,EAW71490,EAW71491,BAA32250,BAB40447,BAB40448,BAB40449,AAC39709,AAC39920,AAL02005,AAL02006,AAL02007,BAF83566,AAR05821,AAR05822,AAH32827,AAH48797,O76075,Q5SR22,Q5SR23,Q96P72,Q96P73,Q96P74 Hs.133089 GDB:9315113 CAD|CPAN|DFF-40|DFF2|DFF40 protein-coding 1350243 DFN2 deafness, X-linked 2, perceptive, congenital 8968763 1679 GDB:119091 1345979 DFN4 deafness, X-linked 4, congenital sensorineural 7942846 1680 GDB:433255 1349218 DFN5 deafness, X-linked 5 1681 GDB:696341 1352682 DFN6 deafness, X-linked 6, sensorineural 8872482 1682 GDB:1320698 1343685 DFN8 deafness, X-linked 8 1684 GDB:1320713 1351071 DFNA16 deafness, autosomal dominant 16 10364526 1694 GDB:9787106 1345143 DFNA18 deafness, autosomal dominant 18 11313754 85507 GDB:11505934 1343757 DFNA19 deafness, autosomal dominant 19 1696 GDB:9862910 1353995 DFNA21 deafness, autosomal dominant 21 10764236,10890148 192644 GDB:10013857 1348048 DFNA23 deafness, autosomal dominant 23 10777717 23724 GDB:10013859 1351423 DFNA24 deafness, autosomal dominant 24 10739769 23723 GDB:10013861 1347485 DFNA25 deafness, autosomal dominant 25 11115382 64944 GDB:11500329 1352666 DFNA27 deafness, autosomal dominant 27 23722 GDB:10013863 1345470 DFNA29 deafness, autosomal dominant 29 23720 GDB:10013865 1353444 DFNA30 deafness, autosomal dominant 30 11571554 23719 GDB:10013866 1351776 DFNA31 deafness, autosomal dominant 31 14729819 347737 1343687 DFNA32 deafness, autosomal dominant 32 94138 GDB:10013867 1347641 DFNA33 deafness, autosomal dominant 33 29779 GDB:10013868 1348936 DFNA34 deafness, autosomal dominant 34 94139 GDB:10013869 1347804 DFNA35 deafness, autosomal dominant 35 94140 GDB:10013870 1353026 DFNA37 deafness, autosomal dominant 37 317718 GDB:11505936 1346533 DFNA4 deafness, autosomal dominant 4 7655461 1686 GDB:606540 1345466 DFNA40 deafness, autosomal dominant 40 63945 GDB:11508363 1347859 DFNA41 deafness, autosomal dominant 41 94142 GDB:11505938 1349035 DFNA42 deafness, autosomal dominant 42 170507 GDB:11505940 1351555 DFNA43 deafness, autosomal dominant 43 12676899 192676 GDB:11508906 1343670 DFNA44 deafness, autosomal dominant 44 12483295 338335 1352889 DFNA45 deafness, autosomal dominant 45 246287 GDB:11508985 1342813 DFNA46 deafness, autosomal dominant 46 246288 GDB:11508986 1350732 DFNA47 deafness, autosomal dominant 47 12634859 246289 GDB:11508987 1354187 DFNA48 deafness, autosomal dominant 48 12596055 246290 GDB:11508988 1344081 DFNA49 deafness, autosomal dominant 49 14627674 317664 1349553 DFNA5 deafness, autosomal dominant 5 Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. 1599770,1580863 9771715,18346456,17868390,17616391,17427029,16897187,16344560,15489334,14702039,14676472,14559215,12853948,12853124,12477932,12461698,11058868,9523727,9450185,9110174,8619474,8589696 1599770 1687 NM_004403,NM_001127453,NM_001127454,AC003093,CH236948,CH471073,AF007790,AF073308,AF075171,AF131765,AJ270686,AK094714,AK290775,BC019689,BC099911,BC125065,BC125066,BX647389,CR595348,CR605051,CR618731,DA197867,DA820184,DA908548 NP_004394,NP_001120925,NP_001120926,AAB83938,EAL24246,EAW93812,EAW93813,EAW93814,AAC39635,AAC69324,AAC69326,AAD20039,BAF83464,AAH99911,AAI25066,AAI25067,O60443 Hs.520708 GDB:636174 ICERE-1 protein-coding 1349658 DFNA50 deafness, autosomal dominant 50 14757864 317665 1347217 DFNA51 deafness, autosomal dominant 51 286750 1343994 DFNA52 deafness, autosomal dominant 52 12522684 347713 1342877 DFNA53 deafness, autosomal dominant 53 353347 1351469 DFNA54 deafness, autosomal dominant 54 15490091 448962 1344040 DFNA7 deafness, autosomal dominant 7 8842739 1689 GDB:666400 1348716 DFNB13 deafness, autosomal recessive 13 9781028 1705 GDB:1320700 1351998 DFNB14 deafness, autosomal recessive 14 9887371 1706 GDB:1320701 1346199 DFNB15 deafness, autosomal recessive 15 9286457 1707 GDB:1323122 1350590 DFNB17 deafness, autosomal recessive 17 9674898 1709 GDB:6165853 1353432 DFNB19 deafness, autosomal recessive 19 1712 GDB:9120549 1352532 DFNB20 deafness, autosomal recessive 20 10196710 1713 GDB:9315105 1345504 DFNB24 deafness, autosomal recessive 24 23716 GDB:10013914 1349702 DFNB25 deafness, autosomal recessive 25 23715 GDB:10013916 1352391 DFNB26 deafness, autosomal recessive 26 11101839 23714 GDB:10013918 1347115 DFNB27 deafness, autosomal recessive 27 11175289 23713 GDB:10013919 1349874 DFNB28 deafness, autosomal recessive 28 23712 GDB:10013920 1349509 DFNB31 deafness, autosomal recessive 31 In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS) (Yap et al., 2003 [PubMed 12641734]). Mutations in this gene, also known as WHRN, cause DFNB31 (MIM 607084).[supplied by OMIM] 1580603 16434480,17171570,16344560,14702039,12833159,12641734,12477932,12421765,11973626,10819331,8088814,1081933 1580603 25861 BC014524,BC142614,BC142684,BF969269,BX329269,DA502065,NM_001083885,AL138895,CH471090,AB040959,AK022854,AK056190,AL110228,AL557526,BC011918,NM_015404 AAI42615,AAI42685,Q5TAV1,Q5TAV2,Q9P202,NP_056219,NP_001077354,CAI17244,CAI17245,CAI17246,CAI17247,EAW87420,EAW87421,EAW87422,EAW87423,BAA96050,BAB14275,BAB71117,CAB53685 Hs.93836 GDB:11505942 CIP98|DKFZp434N014|KIAA1526|RP11-9M16.1|USH2D|WHRN|WI protein-coding 1352253 DFNB32 deafness, autosomal recessive 32 12634867 113877 GDB:11505944 1343011 DFNB33 deafness, autosomal recessive 33 170508 GDB:11505946 1345587 DFNB34 deafness, autosomal recessive 34 245821 GDB:11508898 1353832 DFNB35 deafness, autosomal recessive 35 12529709 246148 GDB:11508958 1344391 DFNB36 deafness, autosomal recessive 36 GDB:11508983 1352572 DFNB38 deafness, autosomal recessive 38 12890929 337991 GDB:11510545 1352587 DFNB39 deafness, autosomal recessive 39 14512973 317720 GDB:11510546 1344004 DFNB40 deafness, autosomal recessive 40 14512974 379003 1349449 DFNB42 deafness, autosomal recessive 42 449482 1342725 DFNB43 deafness, autosomal recessive 43 449481 1346013 DFNB44 deafness, autosomal recessive 44 15583425 449484 1347427 DFNB45 deafness, autosomal recessive 45 449483 1350846 DFNB46 deafness, autosomal recessive 46 449488 1349488 DFNB47 deafness, autosomal recessive 47 449489 1352987 DFNB48 deafness, autosomal recessive 48 404086 1342672 DFNB49 deafness, autosomal recessive 49 15538632 404087 1344042 DFNB5 deafness, autosomal recessive 5 8541854 1697 GDB:636176 1349300 DFNB50 deafness, autosomal recessive 50 404542 1344215 DFNB51 deafness, autosomal recessive 51 448963 1349714 DFNB53 deafness, autosomal recessive 53 494120 1345852 DFNB55 deafness, autosomal recessive 55 494148 1353785 DFNB56 deafness, autosomal recessive 56 494149 1352291 DFNB59 deafness, autosomal recessive 59 17718865,17373699,17301963,16804542,15489334,12477932 494513 NM_001042702,AC009948,BC020859,BC127902,BC127903,DQ365827 NP_001036167,AAI27903,AAI27904,ABC94894,Q0ZLH3 Hs.87734 PJVK protein-coding 1343003 DFNM1 deafness (recessive, nonsyndromic) modifier 1 54362 GDB:10449619 1354344 DFNM2 deafness (mitochondrial) modifier 2 11388757,10788333 494142 731052 DGAT1 diacylglycerol O-acyltransferase homolog 1 (mouse) The enzyme encoded by this gene utilizes diacylglycerol and fatty acyl CoA as substrates in order to catalyze the final stage of triacylglycerol synthesis. It is also involved in cellular as well as physiological metabolic processes. 1625599,734536,1625597,1300048,1580863 9756920,11672446,9789033,16920778,16894240,16870193,16306352,15489334,15308631,15258194,14569040,14557275,12477932,12401709,12123490,11181995,10802663 1625599,734536,1625597 8694 AF205589,CH471162,AB057815,AF059202,BC006263,BC015762,BC023565,BC150649,BI907285,CR619886,CR622706,NM_012079,CR624618,CR625143 NP_036211,EAW82127,EAW82128,EAW82129,EAW82130,BAC66170,AAC63997,AAH06263,AAH15762,AAH23565,AAI50650,O75907,Q9BRH5,ABM83212,ABM86412 Hs.613075 GDB:9956334 ARGP1|DGAT protein-coding 1352737 DGAT2 diacylglycerol O-acyltransferase homolog 2 (mouse) Acyl-CoA:diacylglycerol acyltransferase, or DGAT (EC 2.3.1.20), is responsible for the synthesis of triglycerides. It catalyzes a reaction in which diacylglycerol is covalently joined to long chain fatty acyl-CoAs.[supplied by OMIM] 1580863 11481335,17940217,17504763,17477860,16870193,15489334,15258194,15221005,14970677,14702039,14521909,12975309,12477932 84649 BC015234,CR616126,CR749377,NM_032564,AP001922,AP003031,CH471076,AB048286,AB073384,AF384161,AK074203,AK091870,AL834287,AY358532,AY780647 AAH15234,CAH18230,Q96PD7,NP_115953,EAW74984,EAW74985,BAB40641,BAD38635,AAK84176,CAD38961,AAQ88896,AAV35727 Hs.334305 GDB:11508891 DKFZp686A15125|HMFN1045 protein-coding 1346796 DGAT2L3 diacylglycerol O-acyltransferase 2-like 3 15772651,15671038,14970677,12477932 158833 NM_001013579,AL357752,CH471132,AY947638,BC039181,BN000155,CR620112 NP_001013597,CAI41493,EAX05353,AAX48018,CAD89266,Q58HT5,AAI46429,AAI53035 Hs.407641 AWAT1|DGA2 protein-coding 1606441 DGAT2L4 diacylglycerol O-acyltransferase 2-like 4 16106050,15671038,15489334,15220349,14970677,12477932 158835 NM_001002254,AL158141,CH471132,AY605053,BC063698,BN000156 NP_001002254,EAX05358,AAT68764,AAH63698,CAD89267,Q6E213,AAI46453,AAI53071 Hs.661507 AWAT2|DC4|MFAT protein-coding 1602812 DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 15772651,15671038,14970677,14702039 347516 NM_198512,AL139111,AL357752,CH471132,AK129500,BN000157 NP_940914,CAI41588,EAX05354,BAC85167,CAD89268,Q6ZPD8 Hs.454355 DC3|FLJ25989 protein-coding 1354149 DGCR DiGeorge syndrome chromosome region 1714 GDB:119843 1353708 DGCR10 DiGeorge syndrome critical region gene 10 8776594 26222 L77559 Hs.681383 GDB:11511160 DGS-B protein-coding 1351059 DGCR11 DiGeorge syndrome critical region gene 11 8776594 25786 AK098432,L77561 Hs.657515 GDB:11511162 DGS-D protein-coding 1349814 DGCR12 DiGeorge syndrome critical region gene 12 8776594 25784 L77562 Hs.517357 GDB:11511164 DGS-E protein-coding 1344083 DGCR13 DiGeorge syndrome critical region gene 13 8776594 26221 L77565 GDB:11511166 1317866 DGCR14 DiGeorge syndrome critical region gene 14 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. 1580863 8703114,17081983,16432632,15489334,15461802,14702039,12477932,11991638,11984006,11751918,9499415,9405660,9383280,9063747,8786095,8776594 8220 NM_022719,AC004471,CH471176,AK095932,BC003015,BC006542,BC037829,BC069275,BM545545,CR456344,CR593229,CR593494,CR595570,CR614835,CR617601,CR615947,CR620584,CR621056,CR622732,CR623354,CR625279,L77565,L77566,L78010,CR602190,CR602425,CR602690,CR607045,CR609987,CR611603 NP_073210,EAX03053,EAX03054,EAX03055,EAX03056,AAH03015,AAH06542,AAH37829,CAG30230,AAL40039,Q6NT63,Q96DF8,CAK54486,CAK54785,ABM81588,ABM84768 Hs.517407,Hs.709919 GDB:9954617 DGCR13|DGS-H|DGS-I|DGSH|DGSI|ES2|Es2el protein-coding 1321547 DGCR2 DiGeorge syndrome critical region gene 2 Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. 1580863 7655455,17081983,16783572,16344560,15489334,15461802,15231748,12477932,8776594,8724849,8630060,7633403 9993 DA494775,L46352,L77560,X83545,X84076,NM_005137,AC000095,AC004461,AC004462,AC004471,CH471176,AK291670,AW502246,BC020339,BC032430,BC035425,BC040500,CR456433,CR602533,CR618211,CR936871,D79985 AAB59561,CAA58536,CAA58883,P98153,Q5CZ70,Q8IWC8,CAK54424,CAK54723,ABM85086,BAA11480,NP_005128,EAX03061,EAX03062,EAX03063,BAF84359,AAH32430,AAH40500,CAG30319,CAI59783 Hs.517357 GDB:606514 DGS-C|DKFZp686I1730|IDD|KIAA0163|LAN|SEZ-12 protein-coding 1353254 DGCR5 DiGeorge syndrome critical region gene 5 (non-coding) 11258795,8659529 26220 NR_002733,AC007326,AB051434,X91348 Hs.646438 GDB:11505950 KIAA1647 miscrna 1319711 DGCR6 DiGeorge syndrome critical region gene 6 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome. 1580863 8733130,15821931,15489334,15461802,12477932,12107411,11959925,11891283,11157784 8214 NM_005675,AC007326,CH471176,AF228707,AK098780,BC033306,BC047039,BQ639188,CD368547,CR456434,CR542133,DW432909,X96484 NP_005666,EAX03075,EAX03076,EAX03077,EAX03078,AAK15584,AAH47039,CAG30320,CAG46930,CAA65339,Q14129,Q6FGH4,CAK54425,CAK54724 Hs.474185 GDB:9838150 protein-coding 1343811 DGCR6L DiGeorge syndrome critical region gene 6-like This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. 1580863 16189514,15821931,15489334,15461802,14702039,12477932,11157784 85359 NM_033257,AC007663,CH471176,AF228708,AK001528,AK289952,BC000682,CR456361,CR598657,CR602164,CR621073 NP_150282,EAX02972,EAX02973,EAX02974,AAK15585,BAF82641,AAH00682,CAG30247,Q9BY27,CAK54502,CAK54801 Hs.410965 GDB:11505952 FLJ10666 protein-coding 1346216 DGCR7 DiGeorge syndrome critical region gene 7 11434309 266621 AF130850,X99536 Hs.657950 GDB:11510547 protein-coding 1314941 DGCR8 DiGeorge syndrome critical region gene 8 1580863 15574589,15531877,11256614,17765891,17704815,17159994,16751099,16381901,15589161,15489336,15489334,15461802,14702039,12705904,12477932,11076863,9373149,8125298 54487 AB050770,NM_022720,AC006547,CH471176,AA737782,AF165527,AK025427,AK025539,AK025780,AK094381,AK222796,AY189282,BC009323,BC009984,BC037564,BC071568,BC078147,BQ227899,BX649187,CR456356 CAK54497,CAK54796,NP_073557,BAB83032,EAX02998,EAX02999,EAX03000,AAF82263,BAB15165,BAB15238,BAD96516,AAO86726,AAH09323,AAH09984,AAH78147,CAE46205,CAG30242,Q0JVC9,Q53GY5,Q8WYQ5,CAL37531 Hs.643452,Hs.706790 GDB:10796488 C22orf12|DGCRK6|Gy1 protein-coding 1343276 DGCR9 DiGeorge syndrome critical region gene 9 8776594 25787 BC036821,L77571 Hs.106311 GDB:11511168 DGS-A|POM121L5P protein-coding 732760 DGKA diacylglycerol kinase, alpha 80kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. 1580863 7959783,8180475,2175712,18004883,17911109,17276726,15928040,15870081,15489334,15122338,15117825,14734770,14702039,14559993,12626538,12477932,11285286,10358029,10206945,8626603 1606 NM_001345,NM_201444,NM_201445,NM_201554,AC025162,CH471054,AF064767,AF064768,AF064769,AF064770,AF064771,AI815678,AK122973,AK127093,AK226134,AY930112,BC023523,BC031870,BF448612,BM836118,BM910598,BQ943057,CR616473,CR625683,X62535 NP_001336,NP_958852,NP_958853,NP_963848,EAW96849,EAW96850,EAW96851,AAC34802,AAC34804,AAC34805,AAC34806,Q3ZE25,Q6ZSX2,ABM82643,BAC86824,AAY20994,AAH23523,AAH31870,CAA44396,O75484,P23743,AAC34803,ABM85820 Hs.524488 GDB:126733 DAGK|DAGK1|DGK-alpha|MGC12821|MGC42356 diacylglycerol kinase, alpha (80 kda) protein-coding 731815 DGKB diacylglycerol kinase, beta 90kDa Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Two alternatively spliced transcript variants have been found for this gene. 1300048 12477932,11719522,9872452,7689223,17353931,15489334,12853948,12690205 1607 NM_004080,NM_145695,AC005039,AC005248,AC006150,AC011229,AC073258,AC105459,AX032742,AX032745,CH236948,CH471073,AB018261,BC105005 NP_004071,NP_663733,AAS07495,AAC25525,AAP21868,AAS07533,AAP22362,CAC09945,CAC09946,EAL24292,EAL24293,EAW93663,EAW93664,BAA34438,AAI05006,Q9Y6T7 Hs.567255 GDB:381615 DAGK2|DGK|DGK-BETA|KIAA0718 diacylglycerol kinase, beta protein-coding 1323099 DGKD diacylglycerol kinase, delta 130kDa This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 12200442,8626538,18267070,17357084,15489334,15228384,12810723,12477932,12084710,11809841,11309392,8590280 8527 NM_152879,NM_003648,AC013726,AC019221,CH471063,AB078966,BC006561,BC032102,CR624948,D63479,D73409 NP_690618,NP_003639,AAY14862,AAY24321,EAW71047,EAW71048,EAW71049,EAW71050,BAC11809,AAH06561,BAA09766,BAA11134,Q16760,Q53SE4,Q53SV4 Hs.471675 GDB:1316738 DGKdelta|KIAA0145|dgkd-2 protein-coding 1347499 DGKE diacylglycerol kinase, epsilon 64kDa Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. 1580863 8626589,17353931,18004883,17455907,12477932,10571048,10051413 8526 NM_003647,AC015912,AC106858,AF136745,CH471109,AB209365,AK293039,BC022297,BC130629,BC130631,CR622919,U49379 NP_003638,AAD45666,EAW94526,BAD92602,BAF85728,AAH22297,AAI30630,AAI30632,AAC50497,P52429,Q59FU4,Q8TBM4 Hs.591179 GDB:5584253 DAGK6|DGK protein-coding 733742 DGKG diacylglycerol kinase, gamma 90kDa This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. 1300048,1580863 8034597,17803461,16905533,16407189,16288460,15578578,15212759,15194113,15150663,15102830,12941073,12732202,12477932,10071200,9003401,8889548 1608 NM_001080745,NM_001080744,NM_001346,AC007917,AC112649,AC117414,AB209033,AY737485,BC089411,BC112363,BM669549,D26135,AF020945 NP_001074214,NP_001074213,NP_001337,AAC04686,BAD92270,AAW63408,AAH89411,AAI12364,BAA05132,P49619,Q2M1H4,Q2M589,Q59GS6,Q5FWG1 Hs.683449 GDB:377343 DAGK3|DGK-GAMMA|MGC104993|MGC133330 diacylglycerol kinase, gamma protein-coding 1352279 DGKH diacylglycerol kinase, eta This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family of proteins, specifically the type II DGK subfamily. Members of this family are involved in regulating the intracellular concentrations of diacylglycerol and phosphatidic acid. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 17486107,15489334,15057823,14702039,12810723,12477932,9438377,8702685 160851 NM_178009,NM_152910,AL136527,AL139328,AL157932,CH471075,AB078967,AB078968,AK098302,AK122909,AK289546,AL833883,BC043292,BC044822 NP_821077,NP_690874,CAH71399,CAM14245,CAI16894,CAM23676,CAH71062,CAM13770,EAX08671,EAX08672,EAX08673,EAX08674,EAX08675,BAC66960,BAC66961,BAC05280,BAF82235,CAD38739,AAH43292,Q86XP1 Hs.659437 GDB:9955548 DGKeta|DKFZp761I1510 protein-coding 1343674 DGKI diacylglycerol kinase, iota This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. 1302755,1580863 9830018,14702039,12690205,10706894 1302755 9162 NM_004717,AC009179,AC009245,AC022173,AC078842,AC090498,AF219939,CH236950,CH471070,AB209167,AK091081 NP_004708,AAF43006,EAL24051,EAW83873,EAW83874,EAW83875,EAW83876,BAD92404,O75912,Q59GE2 Hs.242947 GDB:9955141 DGK-IOTA protein-coding 1603361 DGKK diacylglycerol kinase, kappa 16210324 139189 NM_001013742,AL357894,AL591367,CH471180,AB183864,BC137319,BC137320 NP_001013764,EAW89919,BAD86792,AAI37320,AAI37321,Q5KSL6 Hs.631770 protein-coding 1318208 DGKQ diacylglycerol kinase, theta 110kDa The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. 1580863 12799190,12477932,10066731,9438377,8626538,8617502,9099683,17664281,15632189 1609 NM_001347,AC019103,CH471131,AB209503,BC063801,L38707 NP_001338,EAW82630,EAW82631,EAW82632,BAD92740,AAH63801,AAA98749,P52824,Q59FF7,Q6P3W4 Hs.584858 GDB:1326973 DAGK|DAGK4|DAGK7 protein-coding 733860 DGKZ diacylglycerol kinase, zeta 104kDa The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. 1580863,1300048 8626588,9716136,16286473,18004883,17351151,17081983,15632115,15157668,14707140,14702039,14551255,12890670,12883552,12477932,12070163,12015310,11352924,11257115,11078732,9373149,9159104,8125298 8525 NM_201532,NM_201533,NM_003646,NM_001105540,AC116021,CH471064,AB209635,AK097960,AK123378,AK124594,AK124693,AK126970,AK225774,BC008018,BC041770,BU849628,BX370257,BX648433,BX649190,CB959911,U51477,U94905 NP_963290,NP_963291,NP_003637,NP_001099010,EAW68006,EAW68007,EAW68008,EAW68009,BAD92872,BAC85599,BAC85894,BAC85927,BAC86770,AAH08018,AAH41770,CAE46208,AAC50478,AAB60859,Q13574,Q59F26,Q6MZE6,Q6ZT25,Q6ZVD5,Q6ZVG7,Q6ZWA5,Q7Z5X8,Q8IVW9 Hs.502461 GDB:5584254 DAGK5|DAGK6|DGK-ZETA|hDGKzeta protein-coding 1312453 DGUOK deoxyguanosine kinase In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. 1580863,1601052 8692979,18205204,17490647,17073823,17065091,15883261,15639197,15489334,12535661,12477932,12210798,12205643,12054684,11687800,11427893,11337467,11294860,10951205,8975728,8706825,16189514 1601052 1716 NM_080916,NM_080918,AC073046,CH471053,U62042,U81499,AI201630,AU099795,BC001121,BC015757,BC024019,CR601207,U41668,X97386 NP_550438,NP_550440,AAX88910,EAW99704,EAW99709,EAW99710,AAB48932,AAB39858,AAH01121,AAH15757,AAH24019,AAC50624,CAA66054,P78533,Q16854,Q4ZG09,Q7L1W9,Q9BVK7 Hs.469022 GDB:1391769 dGK protein-coding 1315197 DHCR24 24-dehydrocholesterol reductase This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. 1600897,1580863 15577914,11519011,15688385,11007892,16407971,12457401,17984220,17855807,17579359,17510943,16762343,15954227,15489334,15342556,15001630,12477932,7584028,7584026 1600897 1718 NM_014762,AC096536,AF398341,CH471059,AB073391,AF261758,AI952034,BC004375,BC011669,BP200916,BQ439951,CR609488,D13643 NP_055577,AAL15644,EAX06663,EAX06664,BAE45721,AAG17288,AAH04375,AAH11669,BAA02806,Q15392,Q3LIE7,ABM84331,ABM87722 Hs.498727 GDB:9836471 KIAA0018|Nbla03646|SELADIN1|seladin-1 protein-coding 731755 DHCR7 7-dehydrocholesterol reductase The DHCR7 gene encodes delta-7-sterol reductase (EC 1.3.1.21), the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development (Moebius et al., 1998 [PubMed 9465114]).[supplied by OMIM] 734884,1580863,1600899,1300048 9465114,17353931,9878250,18006960,17965227,17855807,17595012,17441222,16497572,16344560,15979035,15954111,15776424,15521979,15489334,15286151,14981719,14556255,12949967,12833423,12794707,12477932,12116246,11857552,11767235,11562938,11503168,11427181,11298379,11175299,11161831,11111101,11078571,10995508,10814720,10719329,10677299,10602371,9683613,9653161,9634533,7560069 734884,1600899 1717 AF110060,AP002387,CH471076,AF034544,AF062481,AF067127,AF096305,AK289497,BC000054,BU848891,CR597288,CR605911,CR609879,NM_001360,DA502590 NP_001351,AAD24762,EAW74788,EAW74789,EAW74790,EAW74791,AAC05086,AAC18345,AAD02816,AAD09766,BAF82186,AAH00054,Q9UBM7,ABM82753,ABM85940 Hs.503134 GDB:9835302 SLOS protein-coding 1323083 DHDDS dehydrodolichyl diphosphate synthase Dehydrodolichyl diphosphate (dedol-PP) synthase catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins.[supplied by OMIM] 15110773,15850770,15489334,14702039,14652022,12591616,12477932,16189514 79947 NM_205861,AL513365,CH471059,AB090852,AK023164,NM_024887,BC003643,BC004117,BC034152,BQ028814,BX648507 NP_079163,NP_995583,CAI21491,CAI21492,CAI21493,CAI21494,CAI21495,CAI21496,CAI21497,CAI21498,CAI21499,EAX07806,EAX07807,EAX07808,EAX07809,EAX07810,EAX07811,EAX07812,BAC57588,BAB14439,AAH03643,AAH04117,AAH34152,Q5T0A2,Q5T0A3,Q5T0A4,Q5T0A7,Q86SQ9 Hs.369385 CIT|CPT|DS|FLJ13102|HDS protein-coding 1323810 DHDH dihydrodiol dehydrogenase (dimeric) This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. 1580863 10477285,12477932,11306093,11097839 27294 NM_014475,AC026803,CH471177,AB021933,BC032730,BF510979 NP_055290,EAW52414,BAA83490,AAH32730,Q9UQ10,ABM81808,ABM84962 Hs.631555 GDB:11504495 HUM2DD protein-coding 736871 DHFR dihydrofolate reductase Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. 1580863,1298877 6687716,18247058,18093916,18056255,18045573,17917571,17683969,17597297,17486595,17449906,17413111,17336564,17237763,14664697,3185016,2859520,2592384,2248959,1935897,1731871,16189514,3383852,12812497,12788094,12612070,12588981,12477932,12384595,12096917,12084458,11996001,11964483,11779239,11448909,10749676,9374868,9119086,8976559,8559246,8527095,6750132,6504041,6323448,6306253,6235374,16969375,16735474,16467096,16124424,16116078,15817466,15755837,15489334,14735580,14679136 1298877 1719 BC009634,BC070280,BC071996,CB988944,EU145592,J00140,V00507,NM_000791,AC008434,AC010270,CH471084,J00139,X00855,AA489055,BC000192,BC003584 AAH03584,AAH70280,AAH71996,ABX57718,AAA58485,CAA23765,P00374,ABM83742,ABM87061,NP_000782,EAW95859,EAW95860,AAA58484,CAA25409,AAH00192 Hs.592364,Hs.648635 GDB:119845 protein-coding 1346515 DHFRL1 dihydrofolate reductase-like 1 737633 15489334,14702039,12477932 737633 200895 NM_176815,AC130896,CH471052,AK122674,AL832912,BC045541,BC063379,CR606902 NP_789785,EAW79895,EAW79896,CAH10617,AAH45541,AAH63379,Q86XF0 Hs.448003 DHFRP4|FLJ16119 protein-coding 1342824 DHFRP1 dihydrofolate reductase pseudogene 1 6961421,6306253 573971 XM_932666,NG_005427,AC016839,J00141 XP_937759,Q6I9Q8 GDB:119093 pseudo 1354176 DHFRP2 dihydrofolate reductase pseudogene 2 9689108,6961421,3341383 729816 XR_042352,XR_042389,NG_001113,AC004182,AL671883,J00143,J00144,J00145 GDB:119094 pseudo 1345874 DHH desert hedgehog homolog (Drosophila) This gene encodes a member of the Hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. 1601053,1580863 16390857,15839736,15489334,12477932,11990454,11435703,11017805,10773676,10640830,10050855,9811851,9524572,8805249,7916661 1601053 50846 NM_021044,AB010994,AC011603,CH471111,CS126483,BC033507,U59748 NP_066382,BAA24866,EAW58039,CAJ18811,AAH33507,AAB03398,O43323 Hs.524382 GDB:9992647 HHG-3|MGC35145 protein-coding 68497 DHODH dihydroorotate dehydrogenase The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. 1580863 17004840,16344560,16341674,15489334,14702039,12477932,12052230,11248707,11012787,10727948,10673429,9693067,8925840,8211381,7487077,1446837 1723 NM_001361,AC009087,AC009127,CH471166,AK097300,AK292293,AU130529,BC065245,BE789211,BI253747,BM795077,CR593960,M94065 NP_001352,EAW59198,EAW59199,EAW59200,EAW59201,BAF84982,AAH65245,AAA50163,Q02127 Hs.654427 GDB:136780 DHOdehase protein-coding 1346952 DHOF dermal hypoplasia, focal 1724 GDB:119847 1602903 DHPS deoxyhypusine synthase The unusual amino acid hypusine is formed posttranslationally and is only found in a single cellular protein, eukaryotic translation initiation factor 5A. In the first step of hypusine biosynthesis, deoxyhypusine synthase catalyzes the NAD-dependent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the EIF5A precursor protein to form the intermediate deoxyhypusine residue. This gene consists of nine exons spanning 6.6 kb. Three transcript variants have been isolated. However, only transcript variant 1 encodes an active protein. The shorter variants may act as modulating factors of DHPS activity. 16452303,14622290,8549832,7673224,17353931,16189514,15489334,15100216,14749535,12788913,12562768,12477932,10229683,9666110,9493264,9110174,8812510,8619474,8615810,7929297,7750572 1725 NM_013406,NM_013407,NM_001930,AC010422,AJ001701,CH471106,AK291553,AY336090,BC000333,BC014016,CR592989,CR601991,CR612211,CR613087,CR615848,CR616605,CR616850,CR622825,CR623822,CR625197,L39068,U26266,U32178,U40579,U79262 NP_037538,NP_037539,NP_001921,CAA04940,EAW84287,EAW84288,EAW84289,EAW84290,EAW84291,EAW84292,EAW84293,EAW84294,BAF84242,AAR24620,AAH00333,AAH14016,AAA86282,AAB02175,AAB02179,AAA96151,AAB50208,P49366,Q5J8M5 Hs.79064 GDB:681161 MIG13 protein-coding 1352104 DHRS1 dehydrogenase/reductase (SDR family) member 1 11256614,16381901,16189514,15489336,15489334,14702039,12477932,12153138,11230166,11076863 115817 NM_138452,AL096870,CH471078,AF418205,AK058159,AK126383,AL833917,BC014057,BC015943,BC036845,BX247980,CR591099,CR592622,CR598317,CR614520,CR625275 NP_612461,EAW66036,EAW66037,EAW66038,EAW66039,EAW66040,AAN32660,BAB71694,CAD38773,AAH14057,AAH15943,CAD62314,Q0JSP5,Q96LJ7,CAL37921,CAL38469 Hs.348350 FLJ25430|MGC20204 protein-coding 1605940 DHRS12 dehydrogenase/reductase (SDR family) member 12 14702039,12477932 79758 NM_024705,NM_001031719,AL136525,AL162377,CH471075,AK023701,BC009825,BC026024 NP_078981,NP_001026889,CAI13427,EAX08884,EAX08885,EAX08886,EAX08887,EAX08888,EAX08889,BAB14646,AAH09825,AAH26024,A0PJE2 Hs.266728 FLJ13639 protein-coding 1603266 DHRS13 dehydrogenase/reductase (SDR family) member 13 12975309,12477932 147015 NM_144683,AC024267,CH471159,AY358566,BC015582,BQ052759,CR591219,CR595762,CR597091,CR598291,CR617686 NP_653284,EAW51159,AAQ88929,AAH15582,Q6UX07 Hs.631760 MGC23280 protein-coding 1321774 DHRS2 dehydrogenase/reductase (SDR family) member 2 1580863 16685466,7556196,11944995,1847869,11997086,15489334,14702039,12477932,9373149,8125298 10202 NM_182908,NM_005794,AF244132,AL135999,CH471078,AB209653,AK092834,AK222857,BC002786,BC007339,CR602571,CR610479,CR611371,CR620554,CR621782,CR624957,U31875 NP_878912,NP_005785,AAG33703,EAW66130,EAW66131,BAD92890,BAD96577,AAH02786,AAH07339,AAA82048,Q13268,Q53GS4,Q59F08,Q7Z789 Hs.272499 GDB:9955670 HEP27 protein-coding 1313699 DHRS3 dehydrogenase/reductase (SDR family) member 3 1580863 9705317,17286855,16710414,15489334,12975309,12477932,12226107,11861404,9373149,8125298 9249 AF179237,AL513016,AL592487,AL645761,CH471130,AF061741,AK222593,AK225057,AL039062,AY358093,BC002730,BF037805,BX648476,CR594468,CR607120,CR622920,DQ426869,NM_004753 NP_004744,AAD55402,CAH74172,CAI15000,EAW71743,AAC63263,BAD96313,AAQ88460,AAH02730,CAI46033,ABD90534,O75911,Q0QD44,Q53HI7,Q5SUY4,Q5VUY3,ABM83932,ABM87251 Hs.289347 RDH17|Rsdr1|SDR1|retSDR1 protein-coding 732149 DHRS4 dehydrogenase/reductase (SDR family) member 4 70713,1580863 17230527,15489334,15473316,14702039,12975309,12477932,10333503 70713 10901 AL136419,AA639837,AB045131,AF044127,AF064256,AK001870,AY071856,AY358638,AY616182,AY616183,AY943857,BC003019,BQ030242,BU529016,DQ325464,DQ338571,DQ344810,NM_021004 NP_066284,BAB18775,AAD02292,AAQ13444,BAA91953,AAL61824,AAQ89001,AAT70757,AAT70758,AAX49568,AAH03019,ABC61320,ABC61321,ABD75823,Q6E0Y0,Q9BTZ2 Hs.528385 DHRS4L2|FLJ11008|NRDR|SCAD-SRL|SDR-SRL|humNRDR carbonyl reductase protein-coding 1352138 DHRS4L1 dehydrogenase/reductase (SDR family) member 4 like 1 70713 70713 337995 1353509 DHRS4L2 dehydrogenase/reductase (SDR family) member 4 like 2 16204458,12477932 317749 NM_198083,AL136419,AI087304,BC000663,BC006125,BC101812,BC101814,DB449220,DQ088987,DQ088988 NP_932349,AAH00663,AAZ85982,Q6PKH6 Hs.528385,Hs.647569,Hs.694200 MGC905 protein-coding 1317573 DHRS7 dehydrogenase/reductase (SDR family) member 7 1580863 15489334,12975309,12508121,12477932,10810093,10800688 51635 NM_016029,AL163853,CH471061,AF126782,AF151844,AL117420,AY359031,BC000637,BC007337,CR616087,CR624637 NP_057113,EAW80769,EAW80770,AAF06941,AAD34081,CAH56402,AAQ89390,AAH00637,AAH07337,Q659E8,Q9Y394 Hs.59719 CGI-86|retDSR4|retSDR4 protein-coding 1601764 DHRS7B dehydrogenase/reductase (SDR family) member 7B This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. 12975309,12477932,11230166,10810093 25979 NM_015510,AC087393,CH471210,AF151851,AL117567,AY358498,BC004126,BC009679,CR457124 NP_056325,EAX02596,EAX02597,AAD34088,CAB55997,AAQ88862,AAH04126,AAH09679,CAG33405,Q6IAN0 Hs.386989 CGI-93|DKFZp566O084|MGC8916 protein-coding 1602060 DHRS7C dehydrogenase/reductase (SDR family) member 7C 201140 NM_001105571,AC027045,AI091419,DN831947 NP_001099041 Hs.61684 protein-coding 736293 DHRS9 dehydrogenase/reductase (SDR family) member 9 11294878,11304534,17244623,15489334,15190067,12975309,12618084,12477932,10800688 10170 NM_005771,NM_199204,AC007556,AC008177,CH471058,AF067174,AF240697,AF240698,AF295380,AF343729,AF529286,AF529287,AF529288,AY017349,AY359046,BC040380,BC051797,BC058883,CA307349 NP_005762,NP_954674,AAX88964,AAY24306,EAX11282,EAX11283,EAX11284,AAD32458,AAF82747,AAF82748,AAL37037,AAK37528,AAN04008,AAN04009,AAN04010,AAG49422,AAQ89405,AAH58883,Q4ZG83,Q53TL1,Q9BPW9,Q9Y2P9 Hs.179608 3alpha-HSD|RDH15|RDHL|RETSDR8 protein-coding 1344855 DHRSX dehydrogenase/reductase (SDR family) X-linked 1580863 15489334,12975309,12477932,11731500 207063 NM_145177,AC079176,BX119919,BX649443,CH471074,CR381696,CR856018,AJ293620,AL137300,AY358849,BC009269,BC019696,BC032340,CR613724 EAW98693,CAC82170,CAB70685,AAQ89208,AAH19696,AAH32340,Q4UJ92,Q8N5I4,ABM82539,ABM85731,NP_660160 Hs.131452 GDB:11505954 CXorf11|DHRS5X|DHRS5Y|DHRSXY|DHRSY protein-coding 1317663 DHTKD1 dehydrogenase E1 and transketolase domain containing 1 737633,1580863 12477932,10997877,8889549 737633 55526 Q68CU5,Q96HY7,Q9BUM8,Q9HCE2 NM_018706,AC073160,CH471072,AA009773,AA393480,AI823832,AL359587,BC002477,BC007955,BG469693,BI333272,BQ420710,BU187564,BU855972,BU927608,CB134342,CF593518,CR749726,R72130 NP_061176,EAW86327,AAH02477,AAH07955,CAH18489,Q68CU5,Q96HY7,Q9BUM8,Q9HCE2 Hs.104980,Hs.612022 DKFZP762M115|KIAA1630|MGC3090 protein-coding 1317633 DHX15 DEAH (Asp-Glu-Ala-His) box polypeptide 15 The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. 1580863 7935475,15146077,9388478,15489334,14702039,12477932,12458796,9747670 1665 NM_001358,AC115110,CH471069,AA771922,AB001636,AF279891,AK054614,AK055898,AK056726,BC035974,BC047577,BU158645,CR605943,CR617314 NP_001349,EAW92814,EAW92815,EAW92816,EAW92817,EAW92818,EAW92819,EAW92820,EAW92821,BAA23987,AAF90182,AAH35974,AAH47577,O43143,Q49A15 Hs.696074 DBP1|DDX15|HRH2|PRP43|PRPF43|PrPp43p protein-coding 1344132 DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. 1304478,1580863 9547260,17081983,16713569,15489334,15302935,12477932,12421765,9628581 1304478 8449 NM_003587,AB088098,AB202095,AL662798,AL732442,AL845353,BA000025,CH471081,CR753328,AB001601,AF119860,BC002789,BC008825,BC009392,CR591941 NP_003578,BAC54930,BAE78615,CAI18247,CAI18248,CAI17761,CAI17762,CAI41882,CAI41883,BAB63323,EAX03312,EAX03313,EAX03314,EAX03315,EAX03316,EAX03317,CAP58463,CAP58464,CAP58465,BAA25908,AAF69614,AAH02789,AAH08825,AAH09392,O60231,Q5JP45,Q5JP46,Q5SQH4,Q5SQH5,Q6PKC8,Q9P186,ABM86832 Hs.485060 DBP2|DDX16|PRO2014|PRP8 protein-coding 1318664 DHX29 DEAH (Asp-Glu-Ala-His) box polypeptide 29 1580863 16964243,15489334,15302935,12477932,9110174,8619474 54505 NM_019030,AC020728,AC026704,CH471123,AF070639,AK025145,AL079292,AL834496,AY036974,BC035988,BC056219,BX648101,BX648269,BX648688,BX649135 NP_061903,EAW54915,EAW54916,EAW54917,EAW54918,AAC25394,CAB45191,CAD39154,AAK64516,AAH56219,CAH56172,CAH56153,Q7Z478 Hs.696182 DDX29|FLJ21492 protein-coding 1318916 DHX30 DEAH (Asp-Glu-Ala-His) box polypeptide 30 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein has 97% sequence identity with the mouse HELG protein. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 14702039,12477932,10048485,2936393,18022663,17255935,15231748 22907 NM_014966,NM_138615,AC026318,AC139667,CH471055,AB020697,AK002076,AK096791,AK291266,BC014237,BC015029,BC020126,BC028405,BC038417,BC047335,BC063510 NP_055781,NP_619520,EAW64833,EAW64834,EAW64835,EAW64836,BAA74913,BAA92071,BAF83955,AAH14237,AAH15029,AAH20126,AAH38417,Q7L2E3,ABM85195 Hs.517948 DDX30|FLJ11214|KIAA0890|Ret-CoR protein-coding 1323353 DHX32 DEAH (Asp-Glu-Ala-His) box polypeptide 32 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. 17352256,17174952,16959245,16414036,14702039,12477932,12163057,11313963 55760 NM_018180,AL360176,AY064247,CH471066,AF427340,AF427341,AK001556,AK001751,AK024869,AL162051,AY064250,BC002473,BC037925,BC068471 NP_060650,CAI12094,CAI12095,CAI12096,AAL55437,EAW49216,EAW49217,AAL26550,AAL26551,BAA91754,BAA91882,BAB15029,CAB82394,AAL55441,AAH02473,AAH37925,AAH68471,Q7L7V1,ABM83608,ABM86828 Hs.501379 DDX32|DHLP1|FLJ10694|FLJ10889 protein-coding 1316314 DHX33 DEAH (Asp-Glu-Ala-His) box polypeptide 33 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. 1580863 15635413,15489334,14702039,12477932 56919 NM_020162,AC004148,CH471108,AK025625,AK026944,AL359945,BC030017,BC042040,BC050409,CR936655 NP_064547,EAW90331,EAW90332,EAW90333,EAW90334,BAB15193,BAB15596,CAB95775,AAH30017,AAH50409,CAI56793,Q9H6R0,Q9NPV4 Hs.250456 DDX33|DKFZp762F2011|FLJ21972 protein-coding 1605422 DHX34 DEAH (Asp-Glu-Ala-His) box polypeptide 34 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. 10708517,8889548,8590280,16344560,12477932,10737800 9704 AA454494,AK123046,AW886612,BC035243,BE397677,BE646419,BE677798,BF894697,BI826597,BM543601,BQ643547,BQ708034,BU732557,BU858266,D50924,DA048179,NM_014681,AC008754,AC073548,CH471126 EAW57473,EAW57474,EAW57475,EAW57476,EAW57477,BAC85524,BAA09483,Q14147,Q6ZWH8,NP_055496 Hs.151706 DDX34|HRH1|KIAA0134 protein-coding 1322480 DHX35 DEAH (Asp-Glu-Ala-His) box polypeptide 35 DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. 1580863 14702039,12522690,12477932,11991638,11780052 60625 NM_021931,AL023803,CH471077,AK025541,AK026412,AK056710,BC033453,BC059369,BC132669,BG258573,CR617741 NP_068750,CAI22034,CAI22035,CAI22036,CAI22038,EAW76005,EAW76006,EAW76007,BAB15166,BAB15476,AAI32670,Q5THQ8,Q5THR1,Q9H5Z1 Hs.444520 C20orf15|DDX35|FLJ22759|KAIA0875 protein-coding 1318732 DHX36 DEAH (Asp-Glu-Ala-His) box polypeptide 36 This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 17353931,18279852,16482509,16150737,15489334,15144186,14731398,12812084,12477932,12198572,10819331 170506 NM_020865,NM_001114397,AC018452,AC134026,CH471052,AB040921,AF217190,AJ577133,AJ577134,AK314435,BC036035,CR593983 NP_065916,NP_001107869,EAW78761,EAW78762,EAW78763,BAA96012,AAG36783,CAE11802,CAE11803,BAG37047,AAH36035,Q9H2U1,ABM81936 Hs.446270 DDX36|G4R1|KIAA1488|MLEL1|RHAU protein-coding 1315679 DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37 This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. 15635413,15489334,12477932,12421765,10819331,17353931 57647 NM_032656,AC093719,CH471054,AB040950,AK123968,BC002575,BC004463,BC009913,BC037964,BC071824,BQ070021 NP_116045,EAW98467,EAW98468,EAW98469,BAA96041,BAC85736,AAH02575,AAH04463,AAH37964,AAH71824,Q6IPP7,Q6ZVX4,Q8IY37,Q9BSZ7 Hs.107382 DDX37|FLJ41974|KIAA1517|MGC2695|MGC4322|MGC46245 protein-coding 1321196 DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. 1580863 12226669,9524131,15489334,15009096,12477932,12417987,11991638,10493829,10421373,9769096,9342318,9039502,8889549,8889548,1825134,17353931 9785 NM_014003,AC004682,AC009087,CH471166,AA126451,AF038391,AK291634,BC004235,BC008340,BG719187,BM473438,BU733805,CR598207,D86977 NP_054722,AAC27431,EAW59180,EAW59181,EAW59182,EAW59183,EAW59184,EAW59185,EAW59186,EAW59187,EAW59188,EAW59189,EAW59190,AAC39729,BAF84323,AAH04235,AAH08340,BAA13213,Q92620,ABM82812,ABM85998 Hs.570079 DDX38|KIAA0224|PRP16|PRPF16 protein-coding 1350869 DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40 DDX40 is a member of the DExH/D box family of ATP-dependent RNA helicases. RNA helicases catalyze the unwinding of double-stranded RNA and play a role in RNA metabolism, including pre-mRNA splicing, ribosome biogenesis, and organellar gene expression.[supplied by OMIM] 15489334,14702039,12522690,12477932,9373149,8707840,8125298 79665 NM_024612,AC004167,AC091271,CH471109,AF260270,AF319521,AF461690,AK025713,AK091334,AK095681,AK123683,AK225268,AK225344,AK226048,AL832510,BC024187 NP_078888,EAW94402,EAW94403,EAW94404,EAW94405,EAW94406,AAF70326,AAK32122,AAN77932,BAB15226,CAI46197,AAH24187,Q8IX18,ABM81835,ABM84986 Hs.29403 ARG147|DDX40|FLJ22060|FLJ34015|PAD protein-coding 1601893 DHX40P DEAH (Asp-Glu-Ala-His) box polypeptide 40 pseudogene 12477932 653645 NR_002924,XR_042168,AC005702,BX280208 Hs.600085 pseudo 1321188 DHX57 DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 17353931,17081983,15815621,15489334,14702039,12477932,9110174,8619474 90957 NM_198963,AC018693,CH471053,AA431324,AB209249,AF070590,AF283512,AI203420,AK057423,BC012454,BC033636,BC039270,BC053623,BC060778,BC065278,BC131534,BC153875,BQ719095,BU183594,CR620209 NP_945314,AAY24256,EAX00358,BAD92486,AAM73547,BAB71479,AAH33636,AAH53623,AAH60778,AAH65278,AAI31535,Q59G60,Q6P158,Q8N4U2 Hs.468226 DDX57|FLJ32861 protein-coding 1603964 DHX58 DEXH (Asp-Glu-X-His) box polypeptide 58 17020950,16189514,16116171,14702039,12477932,11735219,9373149,8889548,8125298 79132 NM_024119,AC105024,CH471152,AK021416,AK097669,AK225549,BC014949,BM723672 NP_077024,EAW60796,EAW60797,EAW60798,EAW60799,EAW60800,BAB13818,AAH14949,Q96C10 Hs.55918 D11LGP2|D11lgp2e|LGP2 protein-coding 1321795 DHX8 DEAH (Asp-Glu-Ala-His) box polypeptide 8 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is highly homologous to yeast Prp22. This protein facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome. 1580863 7935475,16094384,15635413,12477932,11991638,8608946 1659 NM_004941,AC068675,AC087650,CH471178,AK291664,BC020697,BC038223,BC044586,BC047327,CR600304,D50487 NP_004932,EAW51676,EAW51677,EAW51678,EAW51679,EAW51680,BAF84353,AAH20697,AAH44586,AAH47327,BAA09078,Q05CV4,Q14562,Q86X36,Q86YB2 Hs.463105 DDX8|HRH1|PRP22|PRPF22 protein-coding 1318384 DHX9 DEAH (Asp-Glu-Ala-His) box polypeptide 9 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein with RNA helicase activity. It may participate in melting of DNA:RNA hybrids, such as those that occur during transcription, and may play a role in X-linked gene expression. It contains 2 copies of a double-stranded RNA-binding domain, a DEXH core domain and an RGG box. The RNA-binding domains and RGG box influence and regulate RNA helicase activity. 1580863 9111062,10924507,15084609,15355351,17353931,12226669,8690889,18053790,17251188,17081983,16710414,16527808,16375861,16344560,15613478,15489334,15302935,14769796,14704337,14702039,12711669,12665568,12592385,12477932,12429849,12243751,12171929,12163469,11850402,11416126,11402034,11254741,11149922,10951562,10925702,10207077,9892698,9811865,9662397,15995249,9480750,9396813,9323138,8344961,7685763,1537828,10748171,11823437,14743216 1660 AL355999,AL662837,CH471067,AF086352,AK096582,AK130564,AK226102,BC008773,BC014246,BC025245,BC032742,BC058896,BC071950,BC107881,BC137136,DB002450,DB285127,L13848,U03643,Y10658,NM_001357 NP_001348,CAH71701,EAW91137,EAW91138,AAH08773,AAH14246,AAH25245,AAH58896,AAI07882,AAI37137,AAB48855,AAA03571,CAA71668,Q05CI5,Q08211,Q12803,Q32Q22,Q58F26,Q6PJK6 Hs.191518 DDX9|LKP|NDHII|RHA protein-coding 1343511 DHX9P DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 9325059 1661 NG_002657,AC001226 DDX9P pseudo 1322043 DIABLO diablo homolog (Drosophila) This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and it moderates the caspase inhibition of IAPs. Multiple polyadenylation sites have been found for this gene. Several alternatively spliced transcript variants that encode distinct isoforms have been described for this gene but the validity of some transcripts, and their predicted ORFs, has not been determined conclusively. 15628841,10929711,10929712,10950947,11257231,18401527,18091317,18060880,18029193,17997990,17996648,17967504,17724022,17666167,17653087,17630921,17603079,17546047,17521628,17440818,17320350,17291493,17277885,17237824,17223373,17045968,16949641,16868249,16484020,16282325,16091752,15843890,15541727,15537572,15489334,15300255,15242764,15200957,15178455,14960576,14702039,14570909,14560006,14523016,14512414,12975347,12855565,12766489,12749848,12665525,12660240,12642862,12571250,12559088,12525502,12477932,12388702,12364342,12218061,12121969,12118245,11964312,11801603,11801595,11726499,11604410,11323712,11285287,11242052,11140638,11140637,10972280,9373149,8889549,8889548,8125298,17140287,16189514,15280366,12511567,12865429,15650747 56616 CD742753,CF128595,CR596276,CR598154,CR598498,CR612340,CR621745,N66735,BC095468,NM_138929,NM_019887,NM_138930,AC048338,CH471054,AF262240,AF298770,AK001399,AK024768,AK057778,AK222664,AY313210,BC004417,BC011909,BC046209 AAH95468,Q502X2,Q53HB7,Q6W3F3,Q9NR28,ABM83987,ABM87312,NP_620307,NP_063940,NP_620308,EAW98315,AAF87716,AAG22077,BAB14994,BAB71568,BAD96384,AAQ86939,AAH04417,AAH11909 Hs.169611 DIABLO-S|FLJ10537|FLJ25049|SMAC|SMAC3 protein-coding 1348282 DIANPH diabetic nephropathy 23771 GDB:10795303 1321771 DIAPH1 diaphanous homolog 1 (Drosophila) This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1601058,1580863 18218625,17940061,17301291,17198702,17182868,16344560,15123714,15096506,14702039,12847276,12665801,12477932,12324464,11992112,11171383,9110174,8619474,7737110,1350680,12773565,14592989,9360932,10814512,12065429,11590143,15085137 1601058 1729 NM_001079812,NM_005219,AC008781,CH471062,AB209482,AF051782,AK023345,AK057994,AK094264,AL050086,AY007129,AY360322,AY363395,BC007411,BC117257,BQ945734,BT007318,CR607996,CR621303,DA593734,DQ067452,DQ067453 NP_001073280,NP_005210,EAW61919,EAW61920,BAD92719,AAC05373,BAB14533,AAQ64023,AAQ63049,AAH07411,AAI17258,AAP35982,AAZ23039,AAZ23040,O60610,Q17RN4,Q59FH8,Q6URC4,Q6UUU0,Q7KZJ7,Q96IL1 Hs.529451 GDB:9835482 DFNA1|DIA1|DRF1|FLJ25265|LFHL1|hDIA1 protein-coding 1346222 DIAPH2 diaphanous homolog 2 (Drosophila) This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have been linked to premature ovarian failure. Alternative splicing results in two protein isoforms. 1601071,1580863 15772651,15085137,14702039,12833069,12577064,12477932,11525265,11509578,11129329,9360932,9070928,8406446,9497258,17398099,17198702,17081983 1601071 1730 NM_006729,NM_007309,AL031053,AL139399,AL139809,AL161624,AL391821,AL592157,AL606530,AL669876,CH471115,AK002029,AK291272,BC117414,Y15908,Y15909 NP_006720,NP_009293,EAX02791,EAX02792,EAX02793,BAF83961,AAI17415,CAA75869,CAA75870,O60879,Q17R91 Hs.696382 GDB:9835484 DIA|DIA2|FLJ11167|POF|POF2 protein-coding 1350370 DIAPH3 diaphanous homolog 3 (Drosophila) 1580863 18044991,15489334,15231748,15057823,14767582,14702039,12477932,11329013,563699 81624 NM_001042517,NM_030932,AL354829,AL356502,AL359266,AL390878,AL596282,CH471124,AB244756,AB244757,AB244758,AK092024,AL137718,AY750055,AY818645,BC034952,BC048963,BC068504,BF979672,BG203073,BX649186,CA310418 NP_001035982,NP_112194,EAW52069,EAW52070,EAW52071,EAW52072,EAW52073,EAW52074,BAE96350,BAE96351,BAE96352,BAC03793,CAB70890,AAW73254,AAW78862,AAH34952,AAH48963,AAH68504,CAE46204,Q5JSX6,Q9NSV4 Hs.283127 GDB:11500725 DKFZP434C0931|DKFZp686A13178|DRF3|Dia2|FLJ34705|diap3 protein-coding 1319699 DICER1 dicer 1, ribonuclease type III This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Two transcript variants encoding the same protein have been identified for this gene. 1580863 12560494,18178619,18167183,18023283,17663774,17482383,17452327,17379831,17360756,17332367,17317629,17303335,17071602,16582496,16380083,16095561,15811921,12411504,12526743,14749716,16142218,15592455,15342556,15247924,15242644,14702039,14576312,12906857,12527779,12477932,12411505,12168954,12110183,10786632,10727850,10231032,10051563,9110174,8619474,17181864 23405 AY929256,BC046934,BC068591,BC150287,BI913232,BP199059,BQ937506,NM_177438,NM_030621,AL356017,AL390254,CH471061,AB023145,AB028449,AF007142,AJ132261,AK001041,AK001827,AK002007,AK091094,AK091513,AL122105,AL832389,AW297296,AY845867,AY929254,AY929255 AAX18335,AAX18336,AAI50288,Q5D0K4,Q5D0K5,Q9UFF3,Q9UPY3,NP_803187,NP_085124,EAW81595,EAW81596,BAA76772,BAA78691,CAB38857,CAB59269,AAW31883,AAX18334 Hs.87889 GDB:9956519 DCR1|Dicer|HERNA|KIAA0928 protein-coding 1322490 DIDO1 death inducer-obliterator 1 Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. 1580863 17299043,17081983,16964243,16127461,15489334,15302935,15203218,15146197,14702039,12624717,12477932,12070015,11780052,10393935,9205841,8889548,16189514 11083 NM_033081,NM_080797,NM_022105,NM_080796,AL035669,BG677268,BG755041,BG771506,BI830580,BQ045451,BX404270,CD637702,CK300739,CN348577,CN348578,CN370110,CN370112,CR602997,CR609981,BC014615,AL117379,CH471077,AB002331,AF085876,AK002127,AL133063,AY481571,AY481572,BC000770,BC004237,BC012757,BC014489 NP_149072,NP_542987,NP_071388,NP_542986,CAI95761,CAI95762,Q4VXV9,Q9BTC0,ABM83946,ABM87264,CAI95769,CAI95770,CAI95707,CAI95708,CAM28273,CAO03650,EAW75321,EAW75322,EAW75323,EAW75324,EAW75325,EAW75326,BAA20791,BAA92094,CAB61387,AAS49898,AAS49899,AAH00770,AAH04237,AAH14489 Hs.517172 GDB:9959001 BYE1|C20orf158|DATF1|DIDO2|DIDO3|DIO-1|DIO1|DKFZp434P1115|FLJ11265|KIAA0333|MGC16140|dJ885L7.8 death associated transcription factor 1 protein-coding 1344911 DIH1 diaphragmatic hernia 1 1732 GDB:439243 1603655 DIMT1L DIM1 dimethyladenosine transferase 1-like (S. cerevisiae) 16341674,15489334,12477932,12429849,11124703,9584194 27292 NM_014473,AC016637,CH471137,AF091078,AF102147,AJ009761,AK292723,BC002841,BC010874,BC017885,BM749030,CR598329 NP_055288,EAW51384,EAW51385,EAW51386,AAC72947,AAC97955,CAA08815,BAF85412,AAH02841,AAH10874,Q9UNQ2,ABM82408,ABM85595,ABM85767 Hs.533222 DIMT1|HSA9761 protein-coding 735269 DIO1 deiodinase, iodothyronine, type I The protein encoded by this gene is a thiol-requiring propylthiouracil-sensitive oxidoreductase. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It also degrades both hormones by inner ring deiodination (IRD). Alternative splicing results in multiple transcript variants encoding different isoforms. Some, but not all, isoforms contain a selenocysteine (Sec) residue encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Additional transcript variants have been described but are not supported by experimental evidence. 1580863 1400883,17105838,16710414,16131326,15785240,15489334,15483075,12847093,12586771,12477932,12153750,11383912,9784399,9249039,9192862,8964838,8473826,8427198,8187873,8033262,7744884,7651427 1733 NM_000792,NM_001039716,NM_001039715,NM_213593,AL031427,CH471059,S79349,AK290780,AW294928,AY560374,AY560375,AY560376,AY560377,AY560378,AY560379,AY560380,AY560381,AY560382,AY560383,BC017955,BC107170,BC107171,CD014030 NP_000783,NP_001034805,NP_001034804,NP_998758,EAX06720,EAX06721,EAX06722,EAX06723,EAX06724,EAX06725,EAX06726,AAB35380,BAF83469,AAT02480,AAT02481,AAT02482,AAT02483,AAT02484,AAT02485,AAT02486,AAT02487,AAT02488,AAT02489,AAH17955,AAI07171,AAI07172,P49895 Hs.251415 GDB:136449 5DI|MGC130050|MGC130051|TXDI1 protein-coding 735779 DIO2 deiodinase, iodothyronine, type II The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3). It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3 production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different isoforms. 68235,1580863,1626437,1626439 11897672,11872697,11716958,11716036,11165050,11089566,10614643,10343107,9110174,8770868,8755651,8619474,15965468,9837913,18334578,18285610,18198294,18073314,17991726,17504898,17452445,17408423,17389255,17381351,17244789,17224473,17105838,17077128,16928685,16889485,16728541,16728495,16356084,16144953,16140305,16131328,16127464,15797963,15785240,15727947,15291742,15286152,15240580,12933904,12865408,12847093,12775767,12699588,12586771,12477932,12198238,12153750,12089359 68235,1626437,1626439 1734 NM_013989,NM_000793,NM_001007023,AB039888,AC007372,AF188709,CH471061,AB041843,AB041844,AF007144,AF093774,AF123661,AI697311,AI701403,AI888658,AK292210,BC063118,BC074882,BF224328,CD701270,U53506 NP_054644,NP_000784,NP_001007024,BAB21594,AAD45494,AAF37612,EAW81320,EAW81321,EAW81322,EAW81323,EAW81324,EAW81325,BAB16838,BAB16839,AAC95470,BAF84899,AAH63118,AAH74882,AAC50663,Q6P525,Q92813,Q9C0K2,Q9HCP7,Q9NZL0 Hs.202354,Hs.694871 GDB:5189678 5DII|D2|SelY|TXDI2 protein-coding 68623 DIO3 deiodinase, iodothyronine, type III The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 1580863 7593630,18176563,16131330,16131329,16037131,15489334,15240580,14962667,12943987,12847093,12746313,12586771,12477932,12419801,9787088,1519445 1735 NM_001362,AL049836,CH471061,BC017717,BX161470,CR591237,CR602618,CR607338,CR609174,CR613810,S79854 NP_001353,EAW81747,AAH17717,CAD61926,AAB35616,P55073,Q86TU3 Hs.49322 GDB:702065 5DIII|D3|DIOIII|TXDI3 protein-coding 1349148 DIO3OS deiodinase, iodothyronine, type III opposite strand The mouse and human DIO3OS and DIO3 (MIM 601038) genes overlap and are transcribed in opposite directions. The mouse Dio3 gene is imprinted from the paternal allele during fetal development, suggesting that DIO3OS is a noncoding gene that may have a role in maintaining monoallelic expression of DIO3 (Hernandez et al., 2004 [PubMed 14962667]).[supplied by OMIM] 14962667,12477932 64150 NR_002770,AL049836,AF305836,AF469199,AF469200,AF469201,AF469202,AF469203,AF469204,AF469205,AF469206,AF469207,AF469208,BC037351,BC065701,BC111049,CR616805 Hs.525597,Hs.660271,Hs.708957 C14orf134 miscrna 1319135 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 17236128,15489334,14702039,14637006,12477932,12137943,12036298,11812785,8724849,16189514,11675124 23181 NM_015151,NM_206889,NM_206890,NM_206891,AP000337,AP000338,CH471079,AB273729,AF432263,AF490768,AK054807,AK056738,AK091790,AK098236,AK124731,AL137672,BC033718,BC038443,BC046176,BE876989,BF509590,BQ017399,BX410051 NP_055966,NP_996772,NP_996773,NP_996774,EAX09271,EAX09272,EAX09273,EAX09274,EAX09275,BAF69070,AAL28109,AAM18046,BAB71268,BAC05266,BAC85935,CAB70868,AAH33718,AAH38443,AAH46176,Q14689,Q6ZVC7,Q86X66,Q8N7L2,Q96NX2,Q9NSX6 Hs.189585 C21orf106|DIP2 chromosome 21 open reading frame 106 protein-coding 1605978 DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila) 17236128,15302935,15028280,14702039,12477932,10819331 57609 NM_173602,AC078818,AC090021,AC090058,AC125605,CH471111,AB040896,AK091597,AK094890,AK097369,AK126758,BC007671,BC030156,BC075027,BU101773,BU102128,BU429622,BX537905 NP_775873,EAW58149,EAW58150,BAA95987,BAC03705,BAC05025,AAH07671,AAH30156,AAH75027,CAD97891,Q7Z3H2,Q96IB4,Q9P265 Hs.505516 KIAA1463|MGC104005 protein-coding 1346607 DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) 737633,1580863 17236128,15489334,12477932,12168954,10231032 737633 22982 NM_014974,AL157709,AL358216,AL359957,AL603831,AL669841,CH471072,AB023151,AK126063,BC035216,BC048327,BC063313 NP_055789,CAI39594,CAI16215,CAI40897,CAI40900,CAI40901,CAI14620,EAW86535,EAW86536,EAW86537,EAW86538,BAA76778,AAH48327,AAH63313,Q5JR15,Q5JR17,Q5SS78,Q86XV3,Q9Y2E4 Hs.432397 GDB:9957828 FLJ44075|KIAA0934|RP11-486H9.2 protein-coding 1321350 DIRAS1 DIRAS family, GTP-binding RAS-like 1 DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM] 1580863 15489334,15057824,12477932,12194967,12107278 148252 CR614848,NM_145173,AC006538,AB076888,AK124445,AK124672,AL833958,AY056037,AY059641,AY180973,BC017484,BC030660 AAH30660,O95057,ABM82576,ABM85765,ABM85766,NP_660156,AAD13119,BAC01115,AAL23715,AAL17968,AAO22153 Hs.172753 Di-Ras1|FLJ42681|GBTS1|RIG protein-coding 1313693 DIRAS2 DIRAS family, GTP-binding RAS-like 2 DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM] 1580863 15489334,15164053,14702039,12477932,12194967 54769 NM_017594,AL353619,CH471089,AB076889,AK122986,AK124628,AL137308,BC008065 NP_060064,EAW62780,BAC01116,AAH08065,Q96HU8 Hs.165636 DKFZp761C07121|Di-Ras2 protein-coding 1343615 DIRAS3 DIRAS family, GTP-binding RAS-like 3 This gene is a member of the ras superfamily, and is expressed in normal ovarian and breast epithelial cells but not in ovarian and breast cancers. It is a maternally imprinted gene and its expression is associated with growth suppression. Thus, this gene appears to be a putative tumor suppressor gene whose function is abrogated in ovarian and breast cancers. 9874798,18302158,18286529,16710414,16158053,16061651,15489334,14702039,14506155,12874023,12771940,12485503,12477932,11418188 9077 CR541870,CR541892,U96750,NM_004675,AF202543,AL157407,CH471059,AK021882,AK096393,BC005362 CAG46668,CAG46690,AAD03164,O95661,ABM83985,ABM87308,NP_004666,AAG35625,CAI21991,EAX06483,AAH05362 Hs.194695 GDB:9954839 ARHI|NOEY2 protein-coding 1353153 DIRC1 disrupted in renal carcinoma 1 15815621,15489334,12477932,11587072 116093 NM_052952,AC079613,AY039013,CH471058,AY039011,BC125137 NP_443184,AAY15021,AAK83468,EAX10912,AAK83469,AAI25138,Q969H9 Hs.470892 GDB:11504497 protein-coding 1322124 DIRC2 disrupted in renal carcinoma 2 This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. 1601072 16344560,15489334,15342556,14702039,12477932,12237231,11912179 1601072 84925 NM_032839,AC048348,AC078794,CH471052,AA625541,AI079410,AI799012,AK027690,AK075158,AK291176,BC022204,BC033738,BC039821,BP377383,DA268974 NP_116228,EAW79459,EAW79460,EAW79461,EAW79462,BAB55300,BAC11440,BAF83865,AAH33738,AAH39821,Q05BS2,Q96SL1 Hs.477346,Hs.593734 GDB:11505956 FLJ14784|RCC4 protein-coding 1350473 DIRC3 disrupted in renal carcinoma 3 14702039,12939738 729582 XM_001725524,XM_001721776,XM_001725484,AC010886,AC011235,AK024261,AK090954 XP_001725576,XP_001721828,XP_001725536 Hs.572788,Hs.692208 FLJ14199 protein-coding 1312206 DIS3 DIS3 mitotic control homolog (S. cerevisiae) 1580863 9562621,15231747,15635413,15489334,15057823,14702039,12477932,12429849,12419256,12168954,11935316,11812149,11719186,11110791,10231032,9110174,8619474 22894 NM_014953,AL138695,AL391384,CH471093,AB023225,AF035310,AF330044,AK001346,AK025634,AL080158,AL832266,BC012468,BC038101,BC056143,U79246 NP_055768,CAH72708,CAH72709,EAW80517,EAW80518,EAW80519,EAW80520,EAW80521,BAA76852,AAL37479,CAB45749,CAH56266,AAH38101,AAH56143,Q49AG4,Q5W0P6,Q9Y2L1 Hs.643464 GDB:9957288 DKFZp667L1817|FLJ10484|KIAA1008|MGC33035|RP11-342J4.3|RRP44|bA555G22.1|dis3p protein-coding 1606984 DIS3L DIS3 mitotic control homolog (S. cerevisiae)-like 14702039,12477932,11853319 115752 AB075835,AK095407,BC014124,BC022089,NM_133375,AC055855,CH471082 EAW77758,EAW77759,EAW77760,EAW77761,BAB85541,BAC04542,AAH14124,AAH22089,Q8TF46,ABM84396,ABW03567,NP_588616 Hs.446251 FLJ38088|KIAA1955|MGC4562 protein-coding 1604754 DIS3L2 DIS3 mitotic control homolog (S. cerevisiae)-like 2 16344560,14702039,12477932,16189514 129563 NM_152383,AC013435,AC019130,AC068134,AC093374,AC105461,AC138658,CH471063,AA781347,AF443854,AK090419,AK094293,AL834174,BC026166,BC030113,BC036113,BG746662,BM128478,BX648325,CR590558,CR598716,DA058505 NP_689596,AAY24086,AAX82031,EAW70988,AAP97321,BAC03400,BAC04324,CAH10694,AAH26166,AAH36113,CAH10545,Q8IYB7,Q8NF60,ABW03712,ABW03373 Hs.471637 FLJ36974|MGC42174 protein-coding 736704 DISC1 disrupted in schizophrenia 1 This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 12812986,15094396,17043677,18469341,18400883,18395819,18317464,18198266,18180429,18164685,18078707,18075479,17997036,17912248,17823207,17673452,17579608,17286247,17185386,17117617,17055463,17006672,16997000,16959794,16936759,16936715,16843095,16814263,16736468,16710414,16524593,16510495,16389590,16293762,16275808,16243297,16209927,16103888,16056147,16054297,16039834,15940305,15939883,15838535,15797709,15728732,15657124,15478311,15386212,15342131,15184103,15121183,14962739,14702039,14623284,14532331,12874605,12573262,12506198,12477932,11468279,11443544,10945471,10814723,9455484 27185 NM_001012957,NM_001012959,NM_001012958,AF222983,AF222987,AL136171,AL161743,AL359543,AL445200,AL450284,NM_018662,AL626763,AL751364,CH471098,AB007926,AF085943,AF222980,AF230317,AI075754,AJ506177,AJ506178,AK025293,AK096457,AK128283,AL049973,BC038954,BC142622,BC151225 NP_061132,NP_001012975,NP_001012977,NP_001012976,AAF73874,AAF73877,CAI22541,CAI17204,CAI17205,CAI17206,CAI17207,CAI17209,EAW69966,EAW69967,BAA32302,AAF73889,CAD44631,CAD44628,BAC87367,AAI51226,Q5T829,Q5T830,Q6ZRE3,Q9NRI5,Q5VT42,Q5VT46 Hs.13318 GDB:9992707 KIAA0457|SCZD9 protein-coding 1347711 DISC2 disrupted in schizophrenia 2 DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM] 18164685,17912248,15478311,10814723 27184 NR_002227,AF222981,AL136171 GDB:9992708 DISC1OS miscrna 1317002 DISP1 dispatched homolog 1 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. 737633 14702039,12477932,12372301,10619433 737633 84976 NM_032890,AC093152,CH471100,AK023679,AK026114,AK056569,AK098669,AK125728,AL133092,BC007734,BC011542,BC107762 NP_116279,EAW93264,BAB14637,BAB15365,BAC05373,CAB61406,AAH07734,AAH11542,AAI07763,Q3B776,Q96F81 Hs.528817 DISPA|DKFZP434I0428|FLJ43740|MGC104180|MGC13130|MGC16796 protein-coding 1319977 DISP2 dispatched homolog 2 (Drosophila) The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched. 14702039,12372301,11214970,10619433 85455 NM_033510,AC013356,CH471125,AB051529,AK096153,AL359580,BC151833,CR624519,CR627480 NP_277045,EAW92407,EAW92408,BAB21833,AAI51834,CAH10680,A7MBM2 Hs.355645,Hs.592339 DISPB|DKFZp547N223|HsT16908|KIAA1742 protein-coding 1320498 DIXDC1 DIX domain containing 1 1580863 16814745,16344560,15262978,14702039,12934113,12792787,12477932,11214970,9110174,8619474 85458 NM_001037954,NM_033425,BC064479,BC128600,BX370159,DA096120,DQ642016,AP000907,CH471065,AB051522,AB074187,AF070621,AK055469,AK055899,AK074277,AK289807,AU253693,BC033034,BC035509,BC041626,BC048294 NP_001033043,AAH64479,AAI28601,ABG25914,Q155Q3,Q86SR7,NP_219493,EAW67171,EAW67172,EAW67173,BAB21826,BAB71039,BAF82496,AAH33034,AAH35509,AAH41626,AAH48294 Hs.655626 CCD1|KIAA1735 protein-coding 1349510 DKC1 dyskeratosis congenita 1, dyskerin This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. 734888,1580863 10591218,16601202,16618814,12135483,10556300,18057229,18005359,17822678,17625368,17417794,17395830,17081983,17015423,16964243,16690864,16565220,16381901,16169070,16083285,15814878,15635413,15613268,15489336,15489334,15302935,15044956,12736709,12477932,12437656,12429849,12137939,11790298,11379875,11256614,11076863,11074001,10903840,10700698,10583221,10438713,10364516,10217077,9888995,9590285,9373149,9042917,8125298,7607282 734888 1736 NM_001363,AC087225,AC109993,AF067023,AJ010395,AJ010396,AJ224481,CH471172,AF067008,AK225077,AK307672,BC009928,BC010015,CR594173,CR594895,U59151 NP_001354,AAD20232,CAB51168,CAA11970,EAW72661,EAW72662,EAW72663,AAD11815,AAH09928,AAH10015,AAB94299,O60832,Q0JUW0,CAL37509,CAL37701,ABM83663,ABM86910 Hs.4747 GDB:119096 CBF5|DKC|FLJ97620|NAP57|NOLA4|XAP101|dyskerin protein-coding 1601877 DKFZP434B0335 DKFZP434B0335 protein 14702039,12690205,12477932,10718198 25851 NM_015395,AC091654,CH236956,CH471091,AB037779,AK027072,AK057048,AK057618,AK075074,AK292996,AL117495,BC012529,BC053591 NP_056210,EAL23891,EAW76716,EAW76717,EAW76718,BAA92596,BAF85685,CAB55961,AAH12529,AAH53591,Q7Z6L1 Hs.632303 FLJ23419|FLJ90593 protein-coding 1601871 DKFZP434P211 POM121-like protein This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. 15489336,12975309,12477932,11230166,11076863,16381901,16344560 29774 AL117484,AY358961,BC063879,BC086868,BC112340,BX107726,DB072014,NR_003714,AP000354,CH471095,AL040062,AL045566,AL117401 AAQ89320,Q6UW61,Q9NTU6,CAL37766,CAL37978,EAW59653,EAW59654,EAW59655,CAB55902 Hs.534980,Hs.689622,Hs.709138 UNQ2565 pseudo 1602202 DKFZP564O0523 hypothetical protein DKFZp564O0523 12477932,8889548,11230166,16169070,15383276,14702039 84060 NM_032120,AC005156,AC007566,CH236949,CH471091,AF161422,AK054777,AL136619,BC020919,BC033561,BC044570,BC065716,BC104865,BC104867,BM970879,CR533549,CR597840,CR606045,CR933641,CR936726 NP_115496,EAL24148,EAW76838,EAW76839,AAF28982,BAB70806,CAB66554,AAH20919,AAH33561,AAH44570,AAI04866,AAI04868,CAG38580,CAI45942,Q5RL73,Q6FI77,Q9P078 Hs.21590 DKFZp686D1651|HSPC304 protein-coding 1604031 DKFZP564O0823 DKFZP564O0823 protein 16381901,15489336,15489334,15466293,15340161,14702039,12975309,12477932,12107410,11230166,11076863,8889548 25849 NM_015393,AC098825,AC110760,CH471057,AI948471,AK022311,AK025205,AK026200,AL080121,AL602405,AY358777,BC013294,BG401757,BM512163,BM692302,CA388793,CA390477,CA843297,CR619393 NP_056208,EAX05714,EAX05715,EAX05716,EAX05717,CAB45720,AAQ89137,AAH13294,Q0JSP8,CAL38466,CAL38052,Q6UWI2 Hs.105460,Hs.623905 protein-coding 1604026 DKFZP586H2123 regeneration associated muscle protease 15111323,14702039,12975309,12477932 25891 NM_001001991,NM_015430,AC090625,AL354921,CH471064,AF370388,AK027841,AL050214,AL832391,AY358346,BC038457,BC089434,BX640676 NP_001001991,NP_056245,EAW68140,AAQ15224,BAB55404,CAB43317,CAI46203,AAQ88712,AAH89434,CAE45808,Q6UXH9 Hs.55044 FP938|RAMP protein-coding 2291787 DKFZp434K191 hypothetical locus DKFZp434K191 15252450,12477932 29797 XR_040035,AC008103,AC008132,AP000552,AL117485,BC034793,BC050331,BC050342,BC051721,BC068032,BC090873,DQ786190 AAH50331,AAH51721,AAH90873,Q5BKY6 Hs.708246 miscrna 1604331 DKFZp547H025 hypothetical protein DKFZp547H025 16381901,15489336,14702039,11230166,11076863 56918 NM_020161,AC064853,CH471063,AK055355,AL359944,BC131618,CR749679 NP_064546,AAX93156,EAW70873,EAW70874,CAB95774,AAI31619,CAH18470,Q53S99,Q9NPW4,CAL38026,CAL38151 Hs.283092 protein-coding 1601803 DKFZp564N2472 hypothetical protein DKFZp564N2472 14702039 285877 NM_182595,AC074397,AL833888,BI826445,BX104052 NP_872401,CAD38744,Q8N7R1,Q8NDI9 Hs.381970 protein-coding 2291761 DKFZp566H0824 hypothetical LOC54744 12477932 54744 XR_041382,XR_041383,XR_041384,AL050271,AL356072,CH471130,BC029383,BC104430,BC104431,BC113958 EAW71602,AAI04431,AAI04432,AAI13959,Q24K28 Hs.607837,Hs.662784 miscrna 1602155 DKFZp686I15217 hypothetical protein DKFZp686I15217 14702039 401232 Q6N042,Q96NM8 NM_207495,AL133351,AK055096,AK123663,BX640709 NP_997378,BAB70854,CAE45828,Q6N042,Q96NM8 Hs.533050,Hs.661301 protein-coding 1606381 DKFZp686K16132 similar to BMP2 inducible kinase 12477932 388957 Q6ZSR9 BC073953,BC132937,BC132939,BX640963,NM_001012987,AC114772,AK127187 AAI32938,AAI32940,Q6ZSR9,NP_001013005,BAC86877 Hs.661949 protein-coding 1601692 DKFZp686O24166 hypothetical protein DKFZp686O24166 374383 XM_001716694,XM_001717238,XM_001717546,AC124798,BX537685,CR749521 XP_001716746,XP_001717290,XP_001717598,CAD97811,CAH18335,Q68D85,Q7Z3M6 Hs.656375 DKFZp686I21167 protein-coding 1606994 DKFZp761E198 DKFZp761E198 protein 16189514,15146197,12477932 91056 NM_138368,AP001266,CH471076,AF193040,AL834269,BC004895,BC017264,BC109109,BC109110,BC126905,BC128056,BM927404,CN290077 NP_612377,EAW74437,EAW74438,AAG22468,CAD38944,AAH04895,AAI09110,AAI09111,AAI26906,AAI28057,Q0D2Q2,Q2VPB7,Q8N3J7 Hs.591957 PP1030 protein-coding 1316435 DKK1 dickkopf homolog 1 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. 1580863 10383463,16263759,17353931,18339843,18297060,18163421,17987039,17984176,17876334,17702698,17700537,17657240,17643814,17485441,17449905,17373700,17329407,17255354,17245340,17237793,17159916,17068150,17026960,16919965,16863544,16763196,16646053,16568085,16491118,16293576,16189514,15923613,15694380,15592505,15592430,15542433,15489334,15451431,15378020,15340161,15231748,15229249,15117970,14695408,12975309,12740383,12477932,12167704,12050670,11840333,11516963,11448771,11357136,10965128,10570958 22943 AB020315,AC009986,AF261157,AF261158,CH471083,AF127563,AF177394,AY359005,BC001539,BU752259,BX952450,CR591322,CR591735,CR594190,CR594616,CR595444,CR600818,NM_012242,CR603553,CR604811,CR605923,CR610857,CR625465,CR601383,CR603030 NP_036374,BAA34651,AAG15544,EAW54144,AAD21087,AAF02674,AAQ89364,AAH01539,O94907,ABM83148,ABM86347 Hs.40499 GDB:9957754 DKK-1|SK protein-coding 1344026 DKK2 dickkopf homolog 2 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). 1580863 10570958,16568085,15489334,12975309,12527209,12477932,12167704,11742004,11357136,11137016 27123 NM_014421,AB035181,AC003099,AC106863,AP001819,CH471057,AB033208,AB033941,AF177395,AY358414,BC075077,BC075078,BC126328,BC126330 NP_055236,BAA87056,EAX06208,EAX06209,BAA85465,BAB20420,AAF02675,AAQ88780,AAH75077,AAH75078,AAI26329,AAI26331,Q9H3R7,Q9UBU2 Hs.211869 GDB:10013723 DKK-2 protein-coding 1353433 DKK3 dickkopf homolog 3 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863 10570958,18059033,18048388,18033687,17347849,16751809,16609023,16568085,15998302,15516983,15489334,15340161,15226763,15087387,14767340,14702039,12975309,12527209,12477932,11814687,10652205,9373149,9110174,8619474,8125298 27122 BC007660,BQ690088,BQ690888,CB156451,CR607734,H18461,NM_015881,NM_013253,NM_001018057,AB035182,AB057804,AC124276,CH471064,AB033421,AB034203,AB057591,AF052161,AF177396,AK090952,AK092979,AK098756,AK225156,AK289897,AL535720,AY358378,AY587550 AAH07660,O43532,O43533,Q6PQ81,Q8N294,Q9UBP4,ABM83832,ABM87156,NP_037385,NP_056965,NP_001018067,BAA87044,BAB84361,EAW68533,EAW68534,EAW68535,EAW68536,EAW68537,EAW68538,EAW68539,BAA85488,BAA90548,BAB84360,AAF02676,BAC03555,BAF82586,AAQ88744,AAS86757 Hs.292156 GDB:10013726 REIC protein-coding 1318528 DKK4 dickkopf homolog 4 (Xenopus laevis) This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. 1580863 10570958,17553464,15489334,15340161,12527209,12477932,11701963 27121 NM_014420,AB018005,AC107885,CH471080,AB017788,AF177397,BC107046,BC107047,BX105775 NP_055235,BAA33475,EAW63220,BAA33438,AAF02677,AAI07047,AAI07048,Q9UBT3 Hs.159311 GDB:10013728 DKK-4|MGC129562|MGC129563 protein-coding 1350645 DKKL1 dickkopf-like 1 (soggy) The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has high similarity to the N-terminus of the dickkopf-3 protein and moderate similarity to that protein's C-terminus though the C-terminal cysteine residues are not conserved. 1580863 10570958,17081983,15489334,12975309,12477932 27120 NM_014419,AB047818,AC010524,CH471177,AF177398,AY358922,BC030581 NP_055234,BAB12400,EAW52475,AAF02678,AAQ89281,AAH30581,Q9UK85 Hs.515855 SGY|SGY-1|SGY1 protein-coding 1346561 DKKL2 dickkopf-like 2 128848 NG_005524,AL121723 GDB:11505958 dJ854E16.1 pseudo 735273 DLAT dihydrolipoamide S-acetyltransferase The DLAT gene encodes dihydrolipoamide acetyltransferase (EC 2.3.1.12), the E2 subunit of the mammalian pyruvate dehydrogenase complex (PDC; EC 1.2.4.1) of the inner mitochondrial membrane. Patients with primary biliary cirrhosis (PBC; MIM 109720) show autoantibodies to DLAT.[supplied by OMIM] 1580863 3191998,18206651,17068145,16049940,15120760,14702039,14638692,12816949,12477932,12395322,11978179,9649469,9373149,8125298,8102256,3174635,3036145,2317220,16189514 1737 NM_001931,AP000907,CH471065,AF317200,AK057299,AK223596,AL832703,BC039084,CR613534,CR617020,X13822,Y00978,Z48500 NP_001922,EAW67174,EAW67175,AAG31658,BAD97316,AAH39084,CAA32052,CAA68787,CAA88400,P10515,Q01991,Q16791,Q53EP3,Q86YI5,Q9HAN0,ABM83373,ABM86584 Hs.335551 GDB:118785 DLTA|PDC-E2|PDCE2 dihydrolipoamide acetyltransferase protein-coding 68616 DLC1 deleted in liver cancer 1 This gene is deleted in the primary tumor of hepatocellular carcinoma. It maps to 8p22-p21.3, a region frequently deleted in solid tumors. It is suggested that this gene is a candidate tumor suppressor gene for human liver cancer, as well as for prostate, lung, colorectal, and breast cancers. Alternative splicing at this locus results in several transcript variants encoding different isoforms. 1300391,1580863 9605766,12545165,18288400,17979893,17965626,17932950,17888903,17292327,17190795,16951145,16862168,16774933,16680376,16533763,15201975,14702039,14661059,14647417,14633684,12873722,12813468,12792785,12645648,12477932,11214970,10844022,10702663,10649492,9373149,8125298,14561217,15193260 1300391 10395 NM_006094,NM_024767,AC015641,AC019270,AC022844,AC106845,AF408768,CH471080,AB051510,AF026219,AF035119,AK023128,AK024773,AK025544,AK025733,NM_182643,AK225098,AK289734,AK291682,AL117604,BC049842,BC054511,BC095415,CB961755,DQ092382,DQ092383,DQ092384 NP_872584,NP_006085,NP_079043,AAK97501,EAW63851,EAW63852,EAW63853,EAW63854,EAW63855,BAB21814,AAB81637,AAB87700,BAB14996,BAF82423,BAF84371,AAH49842,AAH54511,AAZ32940,AAZ32941,AAZ32942,Q45XF9,Q7Z5R8,Q86UC6,Q96QB1,Q9H7A2 Hs.134296 GDB:9958842 ARHGAP7|FLJ21120|HP|STARD12|p122-RhoGAP protein-coding 1348290 DLD dihydrolipoamide dehydrogenase This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. 1580863 8506365,2188967,3278312,17960497,17404228,17171578,16584639,16442803,16263718,15946682,15826505,15712224,15389771,14638692,12690205,12477932,12297006,11935326,9934985,9727038,9373149,9040023,8619544,8406489,8125298,6897145,3693355,2055113,1993704,1332063,15576032 1738 NM_000108,AC005046,CH236947,CH471070,L13761,M99384,AB209703,AK225289,AK225301,BC018648,BC018696,BI562331,CR609582,CR613488,CR625204,J03490,J03620 NP_000099,EAL24389,EAW83421,EAW83422,AAB01381,AAA35759,BAD92940,AAH18648,AAH18696,AAA59527,AAA35764,P09622 Hs.131711 GDB:120608 DLDH|E3|GCSL|LAD|PHE3 protein-coding 1604836 DLEC1 deleted in lung and esophageal cancer 1 This gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal segment that is commonly deleted in various carcinomas. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins. Aberrant transcription of this gene may be involved in carcinogenesis of the lung, esophagus, and kidney. 10213508,17099870,16756719,8889548 9940 NM_007335,NM_007337,AB026898,AC144536,AP006309,CH471055,AB020522,AB425198,AL137282,AY789464,BC129824,BC129825,BU680752,AL137706 NP_031361,NP_031363,BAA77624,EAW64508,EAW64509,EAW64510,EAW64511,EAW64512,BAA77247,BAG11659,CAB70676,AAX18635,AAI29825,AAI29826,Q32W76,Q9Y238,CAB70884 Hs.710611 GDB:9958492 DLC1|F56 protein-coding 1348392 DLEU1 deleted in lymphocytic leukemia, 1 1580863 14702039,12477932,11406609,11161783,9395242 10301 XR_041407,NR_002605,XR_041406,XR_041408,AL138696,AL157367,AL158195,AF490255,AJ412023,AJ412024,AJ412046,AJ412051,AJ412061,AJ412062,AK095311,BC020692,CR450325,CR600970,CR605740,Y15227 Hs.591229 GDB:9958994 BCMS|DLB1|DLEU2|LEU1|LEU2|MGC22430|XTP6 miscrna 1350283 DLEU2 deleted in lymphocytic leukemia, 2 1580863 16499869,15188451,14636997,12477932,11559527,11264177,11161783,11072235,9395242 8847 NR_002612,AL137060,AL391993,AF075100,AF264787,AF380424,BC033120,BC038090,BC055417,BC070292,CR625878,Y15228,AY455757 Hs.547964 GDB:9957394 1B4|BCMSUN|DLB2|LEU2|MGC88287|RFP2OS|TRIM13OS miscrna 1353599 DLEU2L deleted in lymphocytic leukemia 2-like 11072235 79469 NR_002771,AL109925,AF254117 Hs.659291 GDB:11505680 BCMSUNL pseudo 1605843 DLEU7 deleted in lymphocytic leukemia, 7 15489334,14706829,14702039,12477932 220107 BC112009,NM_198989,AC007304,AL137880,AY357590,AK126830,AY357595,BC104892 AAI04893,AAI12010,Q6UYE1,NP_945340,AAR11481,BAC86712,AAR11480 Hs.673860 FLJ44882|MGC138214 protein-coding 731903 DLG1 discs, large homolog 1 (Drosophila) 1580863 8825652,7937897,10646847,15302935,10779557,11274188,9341123,14699157,10656683,12766944,12807908,12713445,12668732,12507520,12477932,12419826,12351654,12189141,12081647,12070168,12067714,12050163,11726633,11723125,11602598,11572861,11567040,11440998,11279111,11181181,11134026,11060025,10993877,10939335,10619846,10595517,10336672,9786987,9756850,9677374,9512503,9286858,9148889,9115257,8601796,7477295,5024025,12902344,8922391,10859302,17713926,17696365,17574238,17332497,17172448,17069616,16637659,16619250,16473877,16466689,16228013,15699074,15673434,15485825,15221964,15024025,15021905,14960569,12970345,12933808,12860415,12175853,12097473,15729360,9192623 1739 NM_001098424,NM_004087,AC068302,AC092937,AL121981,CH471191,AL831922,BC015560,BC028486,BC042118,EF553524,U13896,U13897,AB209536 NP_001091894,NP_004078,EAW53610,EAW53611,EAW53612,EAW53613,EAW53614,CAD38582,AAH15560,ABQ66269,AAA50598,AAA50599,Q12959,Q59FC4,Q6PJH1,Q8N3T5,Q9H1G8,BAD92773 Hs.292549 GDB:393278 DKFZp761P0818|DKFZp781B0426|DLGH1|SAP97|dJ1061C18.1.1|hdlg protein-coding 731938 DLG2 discs, large homolog 2, chapsyn-110 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Alternatively spliced transcript variants encoding distinct isoforms have been described but their full-length nature has yet to be completely determined. 728660,1580863 8755482,15304517,16192269,17506987,16640776,16344560,14702039,12713445,12477932,12445884,12421351,12351654,12070168,11997254,11771761,11572861,11274188,11095503,10725395,10648730,10197530,9806853,9786987,9753324,9677374,9581762,9278515,9182804,8625413,7477295,15024025,10862698,11122378 728660 1740 NM_001364,AC023118,AP000773,AP000852,AP000857,AP001791,AP001825,AP001984,AP002370,AP002751,AP002797,AP003026,AP003305,CH471076,AB209252,AK094585,AK125151,AK125152,AK126776,AK127150,BC104969,BC110844,BX537627,BX648386,CR749820,CR933674,DA778233,U32376 NP_001355,EAW75093,EAW75094,EAW75095,BAD92489,BAC04381,BAC86064,BAC86065,BAC86685,BAC86854,AAI04970,AAI10845,CAH18680,CAI45970,AAB04949,Q15700,Q2TAL9,Q5H9Q4,Q6ZSU2,Q6ZV01,Q6ZV02,Q8N1Y3,AAI56217 Hs.654862 GDB:6053914 DKFZp781D1854|DKFZp781E0954|FLJ37266|MGC131811|PSD-93 discs, large (drosophila) homolog 2 (chapsyn-110) protein-coding 68628 DLG3 discs, large homolog 3 (neuroendocrine-dlg, Drosophila) 727734,1300392,1580863 16192269,17353931,9188857,16637659,16482544,16192271,15185169,15146197,15024025,12738960,12713445,12576483,12477932,12351654,12175853,12070168,11937501,11572861,11274188,11134026,10862698,10725395,10595517,10574462,10542258,10026200,9808460,9753324,9598320,9581761,9278515,9115257,8780649,8702950 727734,1300392 1741 NM_021120,NM_020730,AL139109,AL139398,CH471132,AB033058,AB209328,BC093864,BC093866,CN357435,U49089 NP_066943,NP_065781,CAI41021,CAI41022,CAI41023,EAX05333,EAX05334,EAX05335,EAX05336,EAX05337,EAX05338,BAA86546,BAD92565,AAH93864,AAH93866,AAB61453,Q59FY1,Q5JUW6,Q5JUW7,Q92796 Hs.522680 GDB:6053915 KIAA1232|MRX|MRX90|NE-Dlg|NEDLG|SAP102 discs, large homolog 3 (drosophila) protein-coding 68630 DLG4 discs, large homolog 4 (Drosophila) This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with DLG2. With DLG2 it is recruited into the same NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. 1300301,1580863 10995758,10939335,10859302,10844022,17916412,17854350,17672918,17474715,17164261,17093888,10839362,10827173,10725395,10627592,10595517,10527873,10521598,10488080,10433268,10341223,10336672,10207009,10026200,9892651,9870942,9808460,9786987,9756850,9581762,9581761,9502803,9482110,9459447,9326658,9286858,9278515,9182804,9148889,9115257,9024696,9009191,8938729,8755482,8625413,8601796,7569905,12738960,12675619,12860415,14960569,15494726,9430700,11029657,16637659,16530958,16473877,16332682,15673434,15603740,15458844,15317815,15030493,15024025,14760703,14732708,12950712,12713445,12682061,12609736,12597860,12586822,12576483,12531901,12477932,12435606,12419528,12359873,12097473,12068077,12067714,12006486,11937501,11925566,11805122,11744724,11723117,11714708,11572861,11506858,11502259,11483650,11440998,11368788,11319238,11279111,11279080,11276111,11274188,11222640,11152698,11134026,7477295,9853749,9286702,10364559,12151521 1300301 1742 NM_001365,AC120057,AF156495,CH471108,AF028825,BC040533,U68138,U83192 NP_001356,AAD56173,EAW90251,EAW90252,EAW90253,EAW90254,EAW90255,AAB84250,AAH40533,AAB07736,AAC52113,O14909,P78352 Hs.463928 GDB:6053916 PSD95|SAP90 protein-coding 1318707 DLG5 discs, large homolog 5 (Drosophila) This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. 1580863 12353226,9738934,18466472,18433468,18397186,18338763,17693570,17544013,17476680,17455201,17451203,17307543,17156146,17100974,17081983,16944184,16773680,16670524,16670523,16534418,16494592,16493449,16450402,16446977,16437728,16391570,16344053,15955786,15952887,15930978,15843420,15841097,15665285,15489334,15164054,15107852,14702039,12657639,12477932,11876824,10903836,9628581 9231 NM_004747,AF352033,AL391421,AL450306,CH471083,AB011155,AB091676,AK055172,AK055265,AK122931,BC002915,BC013378,BC015053,BC030250,BC051757,BC073996,BC086867,BC117695,BC146794,BX649131,U61843 NP_004738,AAL83937,CAI12103,CAI12104,CAI17324,EAW54609,EAW54610,EAW54611,EAW54612,BAA25509,BAC65420,AAH73996,AAI17696,AAI46795,AAC61295,Q8TDM6 Hs.654829 GDB:9955500 KIAA0583|LP-DLG|P-DLG5|PDLG protein-coding 1322602 DLG7 discs, large homolog 7 (Drosophila) 1580863 15145941,12527899,17322106,17081983,16964243,16769820,16565220,16189514,15987997,15489334,15340842,15302935,15286176,14729942,14699157,12902344,12477932,11543626,9179496,7584028,7584026 9787 NM_014750,AL139316,CH471061,AB076695,AK291847,BC010658,BT007344,BX248255,CR622849,D13633,BC016276 NP_055565,EAW80662,EAW80663,EAW80664,BAB97376,BAF84536,AAH10658,AAH16276,AAP36008,CAD62583,BAA02797,Q15398,Q86T11 Hs.77695 DLG1|HURP|KIAA0008 protein-coding 734098 DLGAP1 discs, large (Drosophila) homolog-associated protein 1 728740,1580863 9024696,9286858,15673434,15345747,12954649,12477932,11122378,11060025,10844022,10527873,10521485,9756850,9694864,9221768,9115257,15729360,11148209 728740 9229 NM_004746,NM_001003809,AP002472,AP002478,AP005204,CH471113,AB000276,AB000277,BC070175,BC136453,U67988 NP_004737,NP_001003809,EAX01652,EAX01653,EAX01654,EAX01655,EAX01656,EAX01657,EAX01658,EAX01659,BAA23257,BAA23258,AAH70175,AAI36454,AAC51119,O14490,Q6IS01 Hs.654793 GDB:9955497 DAP-1|DAP-1-ALPHA|DAP-1-BETA|GKAP|MGC88156|SAPAP1|hGKAP protein-coding 1345358 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 The product of this gene is one of the membrane-associated guanylate kinases localized at postsynaptic density in neuronal cells. These kinases are a family of signaling molecules expressed at various submembrane domains and contain the PDZ, SH3 and the guanylate kinase domains. This protein may play a role in the molecular organization of synapses and in neuronal cell signaling. Alternatively spliced transcript variants encoding different isoforms have been identified, but their full-length nature is not known. 1580863 15030493,14508709,12390249,11700307,11368788,10854099,10824095,10521485,9314494,9286858,9221768,9115257,10759891,9694864 9228 NM_004745,AC005010,AC126333,CH471181,AA443942,AA444121,AB000275,AF009204,AF119817,AF119818,AW195368,BC141862 NP_004736,EAW51474,EAW51475,BAA23256,AAB71661,AAF34344,AAF34345,AAI41863,Q9P1A6 Hs.113287 GDB:9955495 DAP2|SAPAP2 protein-coding 1347439 DLGAP3 discs, large (Drosophila) homolog-associated protein 3 1580863 16202977,12477932,9110174,8619474,10521485,9115257 58512 NM_001080418,AC114490,AL122010,AF131778,BC114369,BC114370 NP_001073887,AAD20042,AAI14370,AAI14371,O95886 Hs.436393 DAP3|SAPAP3 protein-coding 1605091 DLGAP4 discs, large (Drosophila) homolog-associated protein 4 The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 16344560,15146197,15044063,14702039,12675619,12477932,11780052,11487731,10862698,10521485,10231032,9620694,9581761,9115257 22839 NM_014902,NM_001042486,NM_183006,AL050318,AL390374,AL445705,CH471077,AB023181,AF088030,AK001681,AK024674,AK055152,AK057672,AK125383,BC023214,BC108706,BC153874,BF345846,BU845397,CN419826,CR610787,CR617588,DA215461,DA688888 NP_055717,NP_001035951,NP_892118,CAI23506,CAI23507,CAI23509,EAW76135,EAW76136,EAW76137,EAW76138,EAW76139,EAW76140,BAA76808,BAC86151,AAI08707,AAI53875,Q5QPF9,Q5T2Y6,Q6ZUR8,Q9Y2H0 Hs.249600 DAP4|KIAA0964|MGC131862|RP5-977B1.6|SAPAP4 protein-coding 732542 DLK1 delta-like 1 homolog (Drosophila) 1625600,1625622,1580863 8500166,7925474,8095043,18176563,17601927,17301032,17182623,16901742,16403460,16288219,15959531,15806146,15489334,15340161,15289021,15120973,15068508,12768436,12672031,12477932,12112016,12036964,11846389,11742219,11701723,11101697,10508217,10393432,10354070,8985741,8501199,7711066,3470797,2308864,16189514 1625600,1625622 8788 NM_003836,AL132711,CH471061,AK289384,BC007741,BC013197,BC014015,BU176937,CB857925,CR589972,CR590000,CR590145,CR590597,CR590639,CR590696,CR590868,CR590961,CR591376,CR591750,CR591860,CR592008,CR592286,CR592721,CR592735,CR592754,CR593067,CR593182,CR593304,CR593712,CR593808,CR598814,CR599401,CR599430,CR599590,CR599990,CR600022,CR600076,CR600085,CR600215,CR600320,CR600394,CR600528,CR601557,CR601740,CR601855,CR602159,CR602394,CR602740,CR602768,CR602802,CR602981,CR603073,CR603336,CR603711,CR603797,CR604081,CR604419,CR604453,CR604832,CR604853,CR605265,CR605266,CR605736,CR605811,CR605835,CR606305,CR598762,CR593941,CR594070,CR594715,CR594723,CR595013,CR595177,CR596202,CR596394,CR596596,CR596754,CR596929,CR597087,CR597152,CR597265,CR597370,CR597891,CR597924,CR597965,CR598209,CR598509,CR598594,CR598595,CR619078,CR619153,CR619260,CR619434,CR619577,CR619730,CR619979,CR620044,CR620249,CR620433,CR620437,CR620479,CR620921,CR620982,CR620985,CR621100,CR621464,CR621555,CR621769,CR621872,CR622031,CR622411,CR622537,CR622612,CR622768,CR622816,CR622936,CR622964,CR623006,CR623045,CR623088,CR623338,CR623771,CR624072,CR624158,CR614234,CR614483,CR614640,CR614781,CR614816,CR614955,CR615076,CR615229,CR615356,CR615937,CR615960,CR616156,CR616316,CR616841,CR616866,CR616973,CR617117,CR617119,CR617162,CR617425,CR617526,CR617612,CR617614,CR624223,CR624263,CR624855,CR624873,CR624905,CR624906,CR625167,CR625354,CR625462,CR625863,CR625975,CR626034,CR626040,CR626215,DQ017081,DQ126100,DQ138965,DQ309460,U15979,U15981,X17544,Z12172,CR617652,CR617661,CR617690,CR617772,CR617802,CR618084,CR618205,CR618442,CR618447,CR618588,CR618723,CR618756,CR618844,CR606310,CR606836,CR606894,CR607193,CR607765,CR607822,CR608431,CR608554,CR608725,CR608997,CR609275,CR609354,CR609387,CR609862,CR609887,CR610043,CR610151,CR610384,CR610577,CR610595,CR610667,CR610708,CR610715,CR610933,CR611040,CR611100,CR611355,CR611431,CR611474,CR611562,CR611747,CR611973,CR612514,CR612689,CR612731,CR613234,CR613751,CR613902,CR614012,CR614142,CR623115 NP_003827,EAW81711,EAW81712,EAW81713,BAF82073,AAH07741,AAH13197,AAH14015,AAY40461,AAZ38943,AAZ66768,ABC26875,AAA75364,AAA75365,CAA35582,CAA78163,P80370,Q0H2C6,Q45KX0,Q4U3E1,Q969Y6 Hs.533717 GDB:9958854 DLK|FA1|PREF1|Pref-1|ZOG|pG2 delta-like homolog (drosophila) protein-coding 1319320 DLK2 delta-like 2 homolog (Drosophila) 16189514,15489334,14702039,14574404,12975309,12477932 65989 NM_023932,AL359813,CH471081,CQ848428,AK055380,AY358126,BC000230,BC006425,NM_206539,BC110320,BI916137,CR605295 NP_996262,NP_076421,CAI23221,CAI23222,CAI23223,CAI23224,EAX04186,EAX04187,EAX04188,EAX04189,EAX04190,EAX04191,CAH18056,AAQ88493,AAH00230,AAH06425,AAI10321,Q5T3T9,Q5T3U0,Q5T3U1,Q6UY11 Hs.337251 EGFL9|MGC111055|MGC2487 protein-coding 733842 DLL1 delta-like 1 (Drosophila) DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. 1580863,1304491,1304492 10079256,11823422,11912004,11581320,17584735,17234965,16344560,16317090,16307184,16225865,15976178,15908431,15905513,15851488,15781650,15605081,15509766,15492857,15254769,14769803,14574404,12975309,12826675,12794186,12684674,12482954,12393852,12050162,12036964,11006133,10958687,10688816,10473135,10473134,9882480,9858718 1304491,1304492 28514 NM_005618,AF222310,AL078605,CH471051,AF196571,AY358892,DA243552,DR000029 NP_005609,AAG09716,CAB89569,EAW47425,AAF05834,AAQ89251,O00548,AAI52804 Hs.379912 GDB:9992623 DELTA1|DL1|Delta protein-coding 735462 DLL3 delta-like 3 (Drosophila) This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. 1599775,1580863,1304491,1304493 10742114,16344560,16303743,15717203,15489334,15200511,12791036,12746394,12477932,11923214,10364530 1599775,1304491,1304493 10683 NM_203486,AC011500,AF241373,CH471126,AA865362,AK075302,BC000218,BQ420593,DB035825,NM_016941 NP_058637,NP_982353,AAF62542,EAW56905,EAW56906,BAC11535,AAH00218,Q8NBS4,Q9NYJ7,ABM82773,ABM85961 Hs.127792 GDB:9959026 SCDO1 protein-coding 1320241 DLL4 delta-like 4 (Drosophila) This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. 1580863 10837024,18339870,18056450,18055448,17998388,17916635,17822320,17692341,17533181,17664272,17157169,16914569,16204037,15820317,15489334,15340161,14990974,12975309,12814948,12684674,12482957,12477932,12200365,11798067,11739188,11134954 54567 NM_019074,AC020661,CH471125,AB036931,AB043894,AF253468,AF279305,AY358894,BC106950,BI820351 NP_061947,EAW92466,BAB16085,BAB18581,AAF76427,AAF81912,AAQ89253,AAI06951,Q9NR61 Hs.511076 GDB:10796784 MGC126344|hdelta2 protein-coding 1351694 DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 1358587,1580863 17220478,8009371,2188967,16344560,16169070,15489334,15038610,12805207,12477932,11445257,11436125,9894876,9727038,9405249,8889548,8584231,8268217,8240324,8076640,3753002,3571202,2365294,1943690,16189514,11825528 1358587 1743 NM_001933,AC006530,CH471061,D26535,AK289414,AL538322,AU133381,BC000302,BC001922,BC002735,BM682697,BM928746,BX248276,BX248764,BX248774,CR456727,CR600036,D16373,L37418,D17297 NP_001924,AAD30181,EAW81199,EAW81200,EAW81201,EAW81202,BAA05536,BAF82103,AAH00302,AAH01922,CAD62604,CAD66571,CAD66581,CAG33008,BAA03871,AAB59629,P36957,Q6IBS5,Q6LEQ7,Q7LDY7,Q86SW4,Q86TQ8,Q86TW7,BAA04130 Hs.525459 GDB:118786 DLTS protein-coding 1343406 DLSTP dihydrolipoamide S-succinyltransferase pseudogene (E2 component of 2-oxo-glutarate complex) 1580863 8009371,8076640 1744 NG_002326,AL357314,D29970,S72422 AAB31066,Q16187 GDB:371690 pseudo 1320012 DLX1 distal-less homeobox 1 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. 14671321,12477932,12050665,7907794,16189514,16266434,15489334,14769946,14702039 1745 NM_178120,NM_001038493,AC015976,CH471058,AK095266,AK290503,AY257976,BC013010,BC036189,BC053351,CR600227,CR624708 NP_835221,NP_001033582,EAX11181,EAX11182,EAX11183,EAX11184,EAX11185,EAX11186,EAX11187,BAC04515,BAF83192,AAO91939,AAH36189,AAH53351,P56177,Q53SU3,Q7Z724,Q8N1R4,ABW03739,ABW03404 Hs.407015 GDB:335585 distal-less homeo box 1 protein-coding 1312529 DLX2 distal-less homeobox 2 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. 1580863 1354641,7590232,15751970,15489334,12957859,12477932,11675124,9111364,8812481,7907794,7901126 1746 NM_004405,AC104801,CH471058,U51003,AA912071,AB208823,AK291367,BC032558,BE905163,CR592469,L07919 NP_004396,AAY14956,EAX11180,AAB40902,BAD92060,BAF84056,AAH32558,AAA19663,Q07687,Q53QU7,Q59HD6 Hs.419 GDB:132358 TES-1|TES1 protein-coding 1312567 DLX3 distal-less homeobox 3 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. 1580863 9467018,18362318,17611665,17559453,16687405,16467978,16303743,16301156,16247549,16187309,15666299,15489334,15454107,14670999,12878157,12477932,11792834,11773066,11343707,11113121,8975708,8889548,7613049 1747 NM_005220,AC009720,AF028233,AF452638,CH471109,CQ783858,AA604314,AK075167,BC012361,BC028970,BM982262,CB990401 NP_005211,AAC14397,AAL99504,EAW94650,CAF86895,AAH12361,AAH28970,O60479,ABM83151,ABM86351 Hs.134194 GDB:572844 AI4|TDO distal-less homeo box 3 protein-coding 1318695 DLX4 distal-less homeobox 4 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. 1580863 11069021,18026954,17999690,17260014,17062780,17003054,15489334,15308321,12820413,12477932,11909945,11792834,11707330,11084035,10831122,9665637,9481790,9467018,9096128,9073066,8975708 1748 BC005812,BC014419,BC016145,BT006978,U31762,U73328,NM_138281,NM_001934,AC009720,AF028235,AF452638,CH471109,AF254115 AAG31975,AAH05812,AAH14419,AAH16145,AAP35624,AAC51171,AAC50942,Q92988,NP_612138,NP_001925,AAC14398,AAL99503,EAW94651,EAW94652,EAW94653,EAW94654,EAW94655 Hs.591167 GDB:3770728 BP1|DLX7|DLX8|DLX9 protein-coding 733723 DLX5 distal-less homeobox 5 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. 1580863 7907794,18413826,18316591,17701895,17363207,16582099,16467978,16344560,15954098,15489334,14702039,12853948,12782124,12690205,12477932,12145306,11959851,11675124,11084035,10516593,10451362,9111364,8889549,7987313,16189514 1749 NM_005221,AC004774,CH236949,CH471091,AA129308,AK023493,BC006226,BT006903,CR593435,DB280023 NP_005212,AAC17833,EAL24121,EAW76741,BAB14587,AAH06226,AAP35549,P56178,Q53Y73 Hs.99348 GDB:335600 protein-coding 1347834 DLX6 distal-less homeobox 6 This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. 1580863 7907794,17701895,15489334,14702039,12853948,12707945,12477932,12193642,11711438,8733122 1750 NM_005222,AC004774,CH236949,CH471091,AK094086,BC069363,BC103688,BC103689,BC103690,BC109381 NP_005213,AAC17832,EAL24122,EAW76744,AAH69363,AAI03689,AAI03690,AAI03691,AAI09382,P56179 Hs.249196 GDB:335607 MGC125282|MGC125283|MGC125284|MGC125285 protein-coding 1351427 DM1 dystrophia myotonica 1 (includes dystrophia myotonia protein kinase) 338023 GDB:119097 1322676 DMAP1 DNA methyltransferase 1 associated protein 1 This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. 1580863 15033475,10888872,17081983,16964243,16710414,16381901,16341674,15647280,15489336,15489334,15367675,15345747,15196461,14978102,14966270,14734556,14702039,14665632,12963728,12477932,11913976,11230166,11076863,10718198 55929 NM_019100,NM_001034023,NM_001034024,AL035417,CH471059,AB037846,AF265228,AK021605,AK054954,AK092898,AK096252,AK289366,AL136657,AL137200,BC002855,BC008053,BM827551,BU616029,BX537895,CA842195,CB123593 NP_061973,NP_001029195,NP_001029196,CAI23197,CAI23198,CAI23199,CAI23200,CAI23201,CAI23202,EAX07046,EAX07047,EAX07048,EAX07049,EAX07050,EAX07051,BAA92663,AAF87079,BAB13854,BAF82055,CAB66592,CAB69910,AAH02855,AAH08053,CAD97886,Q5TG37,Q5TG38,Q5TG40,Q9NPF5,CAL38490,ABM84100,ABM87472 Hs.8008 DKFZp686L09142|DNMAP1|DNMTAP1|EAF2|FLJ11543|KIAA1425|SWC4 protein-coding 735357 DMBT1 deleted in malignant brain tumors 1 Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. The gene DMBT1 was originally isolated based on its deletion in a medulloblastoma cell line. DMBT1 is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The DMBT1 protein is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor supressor gene, but rather play a role in the interaction of tumor cells and the immune system. 1599778,1599780,1599782,1580863 10485905,12681477,9288095,14676191,14732920,18020944,17983803,17908325,17709527,17548659,17243023,17066405,16796526,16790779,16740002,16190864,16042587,15866713,15760920,15754018,15731026,15564322,15355985,15301691,15242536,15228387,15218048,15164054,15101998,14603438,12871854,12672033,12477932,12368192,12353266,12239452,12203780,12185598,12168116,12050164,12015815,11912156,11829014,11751412,11563989,11550206,11007786,10597221,10551316,10101009,9888459,9153228,7784070,12689412 1599778,1599780,1599782 1755 AJ243212,AJ243224,AJ297935,BC153299,BX640988,NM_007329,NM_004406,NM_017579,AB020851,AJ243211,AL603764,CH471066,AB209691,AF159456,AJ000342 CAB56155,CAB63942,CAC44122,AAI53300,CAE45995,Q5JR20,Q5JR22,Q5JR23,Q9UGM3,NP_015568,NP_004397,NP_060049,BAA78577,CAB63941,EAW49308,EAW49309,EAW49310,EAW49311,BAD92928,AAD49696,CAA04019 Hs.279611 GDB:6943888 GP340|MGC164738|muclin protein-coding 1317940 DMBX1 diencephalon/mesencephalon homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 17990594,16710414,12142024,12055180 127343 NM_172225,NM_147192,AL137797,CH471059,AB037699,AF398527,AF398528,AY726596 NP_757379,NP_671725,CAI19184,CAI19185,EAX06907,BAC00920,AAM90589,AAM90590,Q8NFW5,AAI56065,AAI56882 Hs.375623 MBX|OTX3|PAXB protein-coding 1316904 DMC1 DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) The protein encoded by this gene is essential for meiotic homologous recombination. Genetic recombination in meiosis plays an important role in generating diversity of genetic information. The product of this gene is structurally and evolutionary related to the products of the yeast RAD51 and E. coli RecA genes. Alternative splice variants of this gene have been described but their full-length nature has not been determined. 1580863 8602360,8590282,18166824,17639081,17541404,15917244,15917243,15489334,15461802,15164066,15125839,14764457,12477932,11950880,10591208,10562567,9826763,16189514 11144 NM_007068,AL022320,AY520538,CH471095,AK292617,BC035658,BC125163,BC125164,BM545092,CR456486,D63882,D64108 NP_008999,AAR89915,EAW60249,BAF85306,AAH35658,AAI25164,AAI25165,CAG30372,BAA09932,BAA10970,Q14565,Q8IYL1,CAK54477,CAK54776 Hs.339396 GDB:5875382 DMC1H|HsLim15|LIM15|MGC150472|MGC150473|dJ199H16.1 protein-coding 736976 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. 1580858,1580859 12754415,12659812,12655282,12632325,12606026,12596052,12522557,12480947,12477932,12398834,12389738,12376747,12370193,12359139,12354438,12206800,12189167,12140183,12107815,12062429,12031623,11997265,11922612,11917091,11882782,12754707,11861579,11796130,11795488,11741599,11726549,11717465,11571312,11430802,11381192,11352924,11259305,11076863,11039581,10932245,10801490,10767429,10747910,10573008,10545507,10355629,10227401,9851445,9813236,9701558,9683584,9461390,9419360,9410897,9395493,9356463,9339369,9170407,2261642,12376554,16000376,3282674,3287171,1824797,10867799,8282811,18445268,18253029,18083704,18059005,18054699,17997718,17981813,17826093,17767400,17680544,17579806,17503325,17487865,17487735,17428346,17385798,17314512,17285139,17166095,17150596,17145200,16936400,16917894,16891620,16883579,16824516,16807118,16716778,16710609,16569668,16496225,16461336,16439510,16380627,16331671,16295426,16286249,16286242,16276108,16246949,16133659,16094384,15772651,15723292,15655674,15643612,15637982,15528988,15024025,14659407,14652441,14636778,14600269,14559354,14556187,14514278,14513410,12920092,12833401,12757471,9119397,8950674,8817332,8789442,8576247,8566960,8541829,8518789,8513330,8499922,8401582,8401537,8387534,8361506,8358174,8322822,8314593,8301652,8279470,8277968,8199594,8160755,8123157,8083345,8078878,8045556,7981690,7981590,7951253,7890770,7890602,7881286,7849724,7844150,7825571,7795584,7649554,7633443,7581396,3955860,3773991,3659917,3607877,3428261,3346018,3205741,3055295,2909892,2825128,2677830,2668885,2648158,2569720,2407739,2406613,2403634,2176467,2071150,1996328,1918370,1889805,1757094,1632439,1601417,1549596,1544421,1513469,1505985,1483053,1383546,1380160,1377655,1319059,1307253,1307251,16189514 1580858,1580859 1756 NM_004006,NM_004009,NM_004010,NM_004007,NM_004012,NM_004011,NM_004023,NM_004022,NM_004021,NM_004013,NM_004020,NM_004014,NM_004018,NM_004017,NM_004016,NM_004015,NM_004019,AB037493,AC004468,AC006061,AC078957,AC078958,AC079143,AC079175,NM_000109,AC079177,AC079864,AC090632,AC093167,AC093193,AC096506,AF047502,AF047505,AF213402,AF213403,AF213404,AF213405,AF213406,AF213407,AF213408,AF213409,AF213410,AF213412,AF213413,AF213414,AF213415,AF213416,AF213417,AF213418,AF213419,AF213420,AF213421,AF213422,AF213423,AF213424,AF213425,AF213426,AF213427,AF213428,AF213429,AF213430,AF213431,AF213433,AF213434,AF213435,AF213436,AF213437,AF213438,AF213439,AF213440,AF213441,AF213442,AF213443,AF213444,AJ271220,AL031542,AL031643,AL049643,AL050305,AL096699,AL109609,AL121880,AL139278,AL139401,AL451144,AL596023,CH471074,D32048,L01538,L05642,L05646,L05649,M23261,M32058,M81257,M86903,S42212,U27203,AF213411,X15148,X15149,X14298,U60822,U90310,U94396,X06293,X13045,X13046,X13047,X13048,X15495,X54820,AB208836,AK129855,BC009242,BC010932,BC028720,BC036103,BC070078,BC094758,BC127103,BC150141,L35854,M18533,M63072,M63073,M63074,M63075,M92650,S38776,S42206,S60973,S62617,S64152,S81419,X06178,X06179 NP_000100,NP_003997,NP_004000,NP_004001,NP_003998,NP_004003,NP_004002,NP_004014,NP_004013,NP_004012,NP_004004,NP_004011,NP_004005,NP_004009,NP_004008,NP_004007,NP_004006,NP_004010,BAA90413,AAD03808,AAD03809,AAL61550,AAL61551,AAL61552,AAL61553,AAL61554,AAL61555,AAL61556,AAL61557,AAL61558,AAL61559,AAL65098,AAL61560,AAL61561,AAL61562,AAL61563,AAL61564,AAL61565,AAL61566,AAL61567,AAL61568,AAL61569,AAL61570,AAL61571,AAL61572,AAL61573,AAL61574,AAL61575,AAL61576,AAL61577,AAL61578,AAL61579,AAL61580,AAL65099,AAL65100,AAL61581,AAL61582,AAL61583,AAL61584,AAL61585,AAL61586,AAL61587,AAL61588,AAL61589,CAD30261,EAW99061,EAW99062,EAW99063,EAW99064,EAW99065,EAW99066,AAA74506,AAA74507,AAA74508,AAA52309,AAA52330,AAA35779,AAD13821,AAA86115,AAA86116,CAA32479,CAA33245,CAA33246,P11532,Q08947,Q14172,Q14174,Q14205,Q15945,Q16428,Q16484,Q548X2,Q59HC3,Q5JXB4,Q5JXQ4,Q5JXW4,Q6NSJ9,Q6PK12,Q7KYP7,Q7KZ40,Q8N754,Q8TCV2,Q8WTQ2,Q8WYB7,Q8WYB8,Q8WYB9,Q8WYC0,Q8WYC1,Q8WYC2,Q8WYC3,Q8WYC4,Q8WYC5,Q8WYC6,Q8WYC7,Q8WYC8,Q8WYC9,Q8WYD0,Q8WYD1,Q8WYD2,Q8WYD3,Q8WYD4,Q8WYD5,Q8WYD6,Q8WYD7,Q8WYD8,Q8WYD9,Q8WYE0,Q8WYE1,Q8WYE2,Q8WYE3,Q8WYE4,Q8WYE5,Q8WYE6,Q8WYE7,Q8WYE8,Q8WYE9,Q8WYF0,Q8WYF1,Q8WYF2,Q8WYF3,Q8WYF4,Q8WYF5,Q8WYF6,Q9UCW3,Q9UCW4,Q9UEH4,Q9UME2,Q9UMG1,Q9UMK6,Q9UMK7,Q9UMK8,Q9UPB4,Q9UPB5,AAI11588,AAI11837,AAI11935,AAI18003,AAC51631,AAB53001,CAE82077,CAA31451,CAA31452,CAA31453,CAA31454,CAA33518,CAA38589,BAD92073,AAH09242,AAH28720,AAH36103,AAH70078,AAH94758,AAI27104,AAI50142,AAA53189,AAA52312,AAA52313,AAA52314,AAA52315,AAA52316,AAB22395,AAD13820,AAB27159,AAD14363,CAA29544,CAA29545 Hs.495912 GDB:119850 BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272 dystrophin protein-coding 731431 DMGDH dimethylglycine dehydrogenase This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. 1580863,1547831 1710985,14702039,12477932,11231903,10767172,10102904,7513513 1547831 29958 NM_013391,AC008502,AC020937,CH471084,AF111858,AI469206,AK057641,BC022388 NP_037523,EAW95824,EAW95825,AAF21941,AAH22388,Q8TCC6,Q9UI17,AAI56313 Hs.655653 DMGDHD|ME2GLYDH protein-coding 1605012 DMKN dermokine This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain compliments. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, but the full-length nature of some of them has not been determined. 17380110,16374476,15234001,14702039,12975309,12477932,11441184 93099 NM_001035516,NM_001126056,NM_001126057,NM_001126058,NM_001126059,NM_001126061,AC138125,AD001502,AF086315,AK096215,AK125695,AL832080,AY358412,AY622964,AY622965,AY789695,AY789696,AY789697,AY789698,AY789699,AY789700,AY789701,NM_033317,AY789703,AY789704,AY789705,AY789706,AY789707,BC004493,BC011886,BC035311,EF158319,EF158320,EF158321,EF158322,EF158323,EF158324,EF158325,EF158326,AY789702 NP_201574,NP_001030593,NP_001119528,NP_001119529,NP_001119530,NP_001119531,NP_001119533,BAC86249,AAQ88778,AAT68268,AAT68269,AAX48745,AAX48746,AAX48747,AAX48748,AAX48749,AAX48750,AAX48751,AAX48752,AAX48753,AAX48754,AAX48755,AAX48756,AAX48757,AAH04493,AAH11886,AAH35311,ABN11271,ABN11272,ABN11273,ABN11274,ABN11275,ABN11276,ABN11277,ABN11278,Q6E0U4,Q6ZUH6 Hs.417795 UNQ729|ZD52F10 protein-coding 1354169 DMN desmuslin The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. 1580863 11353857,18084875,18028034,17564317,17081983,16777071,16476617,15657940,15318345,14552890,12887813,12669240,12477932,11737198,11683385,11454237,9205841 23336 NM_145728,NM_015286,AC036108,CH471101,AB002351,AF359284,AJ310521,AJ310522,AJ697971,AK026420,AL833262,AW292788,BC022358,BC063699,BC110066,BC151243 NP_663780,NP_056101,EAX02230,EAX02231,EAX02232,BAA20810,AAK57487,CAC83858,CAC83859,CAG27071,AAI10067,AAI51244,O15061,Q2TBJ4,Q5NJJ9,Q8TE61,Q8TE62 Hs.207106 KIAA0353|SYN protein-coding 736576 DMP1 dentin matrix acidic phosphoprotein Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. 1580863 8509401,18037646,17936562,17434448,17136477,17033625,17033621,16679514,16421105,16357164,16294270,15954904,15728181,15329369,15108359,15001995,14578349,12929940,12615915,12477932,11856645,11825898,10775676,10757113,9177774,8889549,8586437 1758 NM_004407,NM_001079911,AC093895,CH471057,U34037,BC130581,BC132865,H89203,U65378,U89012 NP_004398,NP_001073380,EAX05996,EAX05997,AAA97602,AAI30582,AAI32866,AAB87728,AAC51332,Q13316 Hs.652366 GDB:622139 dentin matrix protein 1 protein-coding 1320371 DMPK dystrophia myotonica-protein kinase The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. 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. 1580863,1600900 8499920,8469976,8401505,8288237,8281152,8076686,7905855,7488138,2037285,1546326,1546325,1303233,1302022,11931630,16099181,11903304,11903110,11793472,11781699,11768387,11768386,11766468,11752456,11748308,11592825,11555624,11527424,11287000,11121205,10869570,10811636,10601309,10400997,10026240,9949207,9872056,9811941,9490724,9371827,8595416,15894391,15824798,15722335,15583383,15462191,15317754,15284213,15210527,15079005,15039975,15017064,14759258,14701736,14657503,14607980,14510658,12832055,12697816,12600888,12598332,12477932,12427866,15981568,12220642,10913253,1310900,15598648,18184345,17846170,17825047,17433680,17204048,17192963,16946708,16636244,16519679,16285929,16193250 1600900 1760 NM_004409,NM_001081560,NM_001081562,NM_001081563,AC011530,AC074212,CH471126,L00727,L08835,L19266,AB209363,AV655848,BC026328,BC062553,BG706056,L19268,M87312,M94203,S72883,S86455,U46546 NP_004400,NP_001075029,NP_001075031,NP_001075032,EAW57380,EAW57381,EAW57382,EAW57383,EAW57384,EAW57385,AAA75235,AAA75236,AAA75237,AAA75238,AAA75239,AAA75240,AAC14448,AAC14449,AAC14450,AAC14451,AAA36205,BAD92600,AAH26328,AAH62553,AAA36206,AAA64884,AAB31800,AAA87583,Q09013,Q4G186,Q59FU6,Q6P5Z6 Hs.631596 GDB:119097 DM|DM1|DM1PK|DMK|MDPK|MT-PK protein-coding 732173 DMRT1 doublesex and mab-3 related transcription factor 1 This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. 1580863 10332030,16617334,15489334,15164053,12477932,12434333,11329013,11252745,11040213,10999792,10857744,10604464,9490411 1761 NM_021951,AL136365,CH471071,AF130728,AJ276801,AL162131,AY442914,AY442915,BC040847,BG202785 NP_068770,CAB99335,EAW58820,AAD40474,CAB82851,CAB82427,AAR89619,AAR89620,AAH40847,Q6T1H8,Q6T1H9,Q9Y5R6,ABZ91997 Hs.98586 GDB:9864265 DMT1 protein-coding 1319169 DMRT2 doublesex and mab-3 related transcription factor 2 1580863 10332030,12477932,10857744,10729224 10655 NM_006557,NM_181872,AL358976,CH471071,AF130729,AF284221,AF284222,AF284223,AF284224,AF284225,AK290794,BC030204,BX107686,BX647565,Y19052 NP_006548,NP_870987,EAW58816,EAW58817,EAW58818,AAD40475,AAF86289,AAF86290,AAF86291,AAF86292,AAF86293,AAF86294,AAF86295,BAF83483,AAH30204,CAI46061,CAB59891,Q5HYK2,Q5VXF7,Q5VXF8,Q9NPG6,Q9NQR6,Q9Y5R5 Hs.59506 GDB:9958100 protein-coding 1314434 DMRT3 doublesex and mab-3 related transcription factor 3 1580863 10729223,15489334,15164053,12477932,11863363,11543627 58524 NM_021240,AF193872,AL136365,CH471071,AF193873,AF217741,AJ301581,BC113584,BC117245 NP_067063,AAF78891,CAB99336,CAH70546,EAW58819,AAF78892,AAF72594,CAC37947,AAI13585,AAI17246,Q5W0Z5,Q9NQL9,Q9NRJ9,Q9NRR0 Hs.189174,Hs.672740 GDB:11505960 DMRTA3|MGC142144 protein-coding 1320325 DMRTA1 DMRT-like family A1 15164053,14702039,12477932,11863363 63951 NM_022160,AL161730,CH471071,AJ290954,AK096011,AK130018,BC130435,BC130437 NP_071443,CAH73857,EAW58591,CAC16590,BAC04672,AAI30436,AAI30438,Q5VZB9 Hs.371976 GDB:11508365 DMO|MGC163307|MGC163309 protein-coding 1343593 DMRTA2 DMRT-like family A2 1580863 11863363,8889548 63950 NM_032110,AL049637,AI492131,AJ301580,BU727085 NP_115486,CAI23011,CAC37946,Q96SC8 Hs.334481 GDB:11508367 protein-coding 1349847 DMRTB1 DMRT-like family B with proline-rich C-terminal, 1 1580863 16713569,16189514,14702039,12477932,11863363 63948 NM_033067,AL365445,CH471059,AJ291671,AK057273,BC029566,CR595262 NP_149056,CAI22836,EAX06735,EAX06736,CAC40654,BAB71407,AAH29566,Q96MA1 Hs.131654 GDB:11501740 protein-coding 1346508 DMRTC1 DMRT-like family C1 15772651,15489334,12477932,11863363 63947 NM_033053,AL353999,CH471213,AJ291670,AV753283,AW205069,BC029799,BC047596,BI755761,CB121638 NP_149042,EAW71829,EAW71830,EAW71831,CAC40653,AAH29799,AAH47596,Q5HYR2,AAI60151 Hs.558685,Hs.658177 GDB:11508369 protein-coding 1345316 DMRTC2 DMRT-like family C2 1580863 16344560,15489334,14702039,12477932,11863363 63946 NM_001040283,AC010616,CH471126,AJ291669,AK057404,BC029202,BC039266,DB026313 NP_001035373,EAW57068,EAW57069,EAW57070,CAC40652,BAB71473,AAH29202,AAH39266,Q8IXT2,ABZ92201 Hs.350507 GDB:11505962 protein-coding 736177 DMTF1 cyclin D binding myb-like transcription factor 1 727758,1580863 10095122,15010895,14702039,12917399,12477932,9847074,9786929,9110174,8887674,8619474 727758 9988 NM_021145,AC005076,CH236949,CH471091,AB209230,AF052102,AF084530,AF202144,AF202145,AK002073,AK095828,AK123259,AK126664,BC007418,BC007447,BC029370,BC070064 NP_066968,AAD43181,EAW76962,EAW76963,EAW76964,EAW76965,BAD92467,AAC33480,AAG35613,AAG35614,AAH07418,AAH07447,AAH29370,AAH70064,Q9Y222 Hs.654981 GDB:9959036 DMP1|DMTF|FLJ41265|hDMP1 protein-coding 1346083 DMWD dystrophia myotonica, WD repeat containing 1580863 15302935,15057824,14526185,12477932,11592825,11527424,10400997,9872056,8889548,8499920,7905855,7633444,1302022 1762 NM_004943,AC011530,CH471126,L08835,BC019266,BC041034,BG106514,BM922103,BQ189202,BT006798,BX283745,CD106470,CR595534,L19267 NP_004934,EAW57386,EAW57387,AAC14447,AAH19266,AAP35444,AAA35767,Q09019,Q8WUW6,AAI56312 Hs.515474 GDB:7178354 D19S593E|DMR-N9|DMRN9|gene59 dystrophia myotonica-containing wd repeat motif protein-coding 1317027 DMXL1 Dmx-like 1 The protein encoded by this gene is a member of a superfamily of WD repeat proteins. The function of this protein is not yet determined; however, other related family members perform functions involved in regulatory processes. 1580863 10708522,14702039,12477932 1657 NM_005509,AC027320,AC118465,CH471086,AJ005821,AK126726,BC028004,BC150616,BX649064 NP_005500,EAW48916,EAW48917,EAW48918,CAA06718,AAH28004,AAI50617,Q05C95,Q9Y485 Hs.181042 GDB:9836469 DKFZp779O1239|FLJ44772 protein-coding 1347338 DMXL2 Dmx-like 2 1580863 11809763,16344560,15144186,12477932,12168954,10048485,12786944 23312 AC020892,AC066613,CH471082,AA629921,AB020663,AF389880,AK000156,AK129764,BC016032,BC022050,BC035883,BC140781,BX491117,CR622203,DA484900,NM_015263 NP_056078,EAW77420,EAW77421,EAW77422,EAW77423,EAW77424,BAA74879,AAL93215,AAH22050,AAI40782,Q6ZP26,Q8TDJ6,Q8WTV7 Hs.511386 GDB:9836470 FLJ26672|KIAA0856|RC3 protein-coding 1315606 DNA2 DNA replication helicase 2 homolog (yeast) 11473323,17032657,16595800,16595799,15489334,15164054,12477932,8938459,7788527 1763 NM_001080449,AL136233,BC017003,BC028188,BC041115,BC053574,BC063664,BC073945,BC111740,CR606021,D42046 NP_001073918,CAI17237,CAI17238,AAH28188,AAH41115,AAH53574,AAH63664,AAI11741,BAA07647,P51530,Q5TC50,Q8N346 Hs.532446 GDB:1313702 DNA2L|FLJ10063|KIAA0083|MGC133297 protein-coding 1343402 DNAH1 dynein, axonemal, heavy chain 1 1298890 9373155,14702039,10718198,9256245,8812413 1298890 25981 AC092045,AJ132094,CH471055,NM_015512,U83571,AB037831,AB290163,AJ132083,AK023766,AK074130,AK125990,AL117428,AY221994,U61738,Z83804 NP_056327,CAB46445,EAW65215,EAW65216,EAW65217,EAW65218,EAW65219,AAB82761,BAA92648,BAG06717,CAA10556,BAB14671,BAB84956,BAC86379,CAB55917,AAO43053,AAC50702,CAB06058,Q9P2D7 Hs.655469 GDB:683302 DNAHC1|HDHC7|HL-11|HL11|XLHSRF-1 protein-coding 733008 DNAH10 dynein, axonemal, heavy chain 10 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM] 14702039,11181995,11175280 196385 NM_001083900,NM_207437,AC079315,AC117503,CH471054,AB095937,AB290168,AI240003,AJ132089,AK091526,AK095581,AK125475,AK125796,DV080260,DV080370,DV080609,DV080705 NP_001077369,NP_997320,EAW98437,BAC23113,BAG06722,CAA10562,BAC04579,BAC86173,BAC86296,Q8IVF4 Hs.622654 GDB:10796786 FLJ38262|FLJ43486|FLJ43808|KIAA2017 dynein, axonemal, heavy polypeptide 10 protein-coding 1348566 DNAH11 dynein, axonemal, heavy chain 11 This gene encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. 1580863,734893 18022865,15375157,15304525,14702039,12853948,12142464,10737800,9325061,9256245 734893 8701 NM_003777,AC004002,AC004595,AC005078,AC013481,AC073102,AC099653,AC102952,CH236948,CH471073,U83569,AI743846,AJ132087,AJ320497,AK054657,AL529367,BF369731,BQ365981,CA424782,AK095018 NP_003768,AAB96346,AAS07433,AAC78616,AAS07505,EAW93736,EAW93737,EAW93738,EAW93739,AAB82759,CAA10560,CAC60121,BAB70785,BAC04475,O15433,O43352,O95705,Q75KM7,Q75MY1,Q8N9D2,Q96DT5,Q96NT7 Hs.520245,Hs.655326 GDB:9956676 CILD7|DNAHBL|DNAHC11|DNHBL|DPL11|FLJ30095|FLJ37699 protein-coding 1344095 DNAH12 dynein, axonemal, heavy chain 12 1298890,1580863 9373155,17283181,17173037,9256245,8812413,8666668 1298890 8679 U53532,U83573,U61739,Z83802 AAB09729,AAB82762,AAC50703,CAB06056,O00434,O15436,Q92864 Hs.381296 GDB:9956255 DHC3|DLP12|DNAHC12|DNAHC3|DNHD2|HL-19|HL19|hdhc3 dynein, axonemal, heavy polypeptide 12 protein-coding 1604455 DNAH12L dynein, axonemal, heavy chain 12-like 17287340 375347 NM_198564,AC092418,CH471055,AK126276,CD684932 NP_940966,EAW65341,BAC86512,Q6ZTR8 Hs.669912 DNAH7L|FLJ44290 protein-coding 1344286 DNAH13 dynein, axonemal, heavy polypeptide 13 1771 GDB:683310 1350731 DNAH14 dynein, axonemal, heavy chain 14 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM] 1298890,1580863 8812413 1298890 127602 XM_059166,XM_938194,XM_001721899,AC092811,AC093560,AL162738,AL357912,AL590547,AL596134,AL645769,CR936804,U61741 XP_059166,XP_943287,XP_001721951,CAI95641,CAI95642,CAI95150,AAC50705 Hs.655805 GDB:5812887 DKFZp781B1548|Dnahc14|HL-18|HL18 protein-coding 1345551 DNAH17 dynein, axonemal, heavy chain 17 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM] 1580863 9373155,15822942,14702039,12477932,11181995,9545504 8632 NM_173628,AC016182,AC061992,CH471099,AB290170,AJ000522,AK097776,AK126059,AK128065,AL122077,AL832652,BC105107,BC112284,CR620279 NP_775899,EAW89527,EAW89528,BAG06724,CAA04165,BAC05170,BAC86419,BAC87257,CAB59252,AAI05108,AAI12285,Q6ZU08,Q9UFH2 Hs.375975 GDB:9956063 DNAHL1|DNEL2|FLJ40457|MGC132767|MGC138489 dynein, axonemal, heavy polypeptide 17 protein-coding 1343596 DNAH2 dynein, axonemal, heavy chain 2 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM] 1580863 9256245,12477932,12107411,10819331 146754 NM_020877,AC025335,AC087388,CH471108,U83570,AB040936,AK128517,AK292607,BC034225,BQ638815,BX648163 NP_065928,EAW90129,EAW90130,EAW90131,AAB82760,BAA96027,BAC87476,BAF85296,AAH34225,Q9P225 Hs.367649 GDB:683303 DNAHC2|DNHD3|FLJ46675|KIAA1503 protein-coding 1314138 DNAH3 dynein, axonemal, heavy chain 3 727749 9256245,14702039,12477932,11175280,10493829,9556328,9373155 727749 55567 AC002394,AC008551,AC105410,AJ132092,CH471228,U83574,AF494040,AJ132085,AK056509,NM_017539,AK125907,AK125952,AL096732,BC019878,Z83805 NP_060009,AAC05809,CAA10565,EAW66850,EAW66851,EAW66852,EAW66853,AAB82763,AAM12861,CAA10558,BAE46616,CAB46377,AAH19878,CAB06059,Q8TD57 Hs.526500 GDB:683304 DKFZp434N074|DLP3|DNAHC3B|FLJ31947|FLJ43919|FLJ43964|Hsadhc3 dynein, axonemal, heavy polypeptide 3 protein-coding 1348406 DNAH5 dynein, axonemal, heavy chain 5 1580863,1601080 8812413,16627867,16492982,15845866,14702039,11788826,11062149,10997877,9373155,9256245,8889548,6221120 1601080 1767 NM_001369,AC016546,AC016576,AC026811,CH471102,AB046823,AK026756,AK055138,AK128600,AY045575,AY049075,AY050643,CA314998,U61735 NP_001360,EAX08050,BAB13429,BAB15543,AAK92217,AAL06603,AAL14192,AAC50699,Q8NEX4,Q8TE73 Hs.212360 GDB:683307 CILD3|DNAHC5|FLJ46759|HL1|KIAA1603|KTGNR|PCD protein-coding 1347757 DNAH6 dynein, axonemal, heavy chain 6 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH6 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM] 1298890 8812413 1298890 1768 AJ132086,U61736 CAA10559,AAC50700 Hs.591570 GDB:683308 Dnahc6|HL-2|HL2 protein-coding 1317528 DNAH7 dynein, axonemal, heavy chain 7 DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM] 727749 9373155,11877439,15342556,14702039,12477932,10231032 727749 56171 NM_018897,AC013274,AC068919,AC104600,AC114760,AJ132093,CH471063,AB023161,AF327442,AJ132084,AK094515,BC029567,BP199399,BX117789,CR749651,Z83801 NP_061720,AAY14776,AAY14995,AAY24051,AAY14981,CAB46444,EAW70120,EAW70121,BAA76788,AAL37427,CAA10557,BAC04372,AAH29567,CAH18445,CAB06055,Q8WXX0 Hs.97403 GDB:9955038 DKFZp686C09101|FLJ37196|KIAA0944|MGC39580 dynein, axonemal, heavy polypeptide 7 protein-coding 1348996 DNAH8 dynein, axonemal, heavy chain 8 Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Dynein heavy chains (DHCs) are responsible for force production and ATPase activity and contain a highly conserved catalytic domain with 4 P-loop consensus motifs involved in nucleotide binding. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. Axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH8 is an outer arm axonemal DHC (Chapelin et al., 1997 [PubMed 9256245]; Neesen et al., 1997 [PubMed 9373155]).[supplied by OMIM] 727749 9373155,17081983,14702039,14574404,12297094,9256245,8812413 727749 1769 AL034345,AL035555,AL035690,AL353700,AL391415,CH471081,AF356519,AF527621,AF527622,AJ132091,AK093434,AK093653,AK098716,AL042262,AW503176,NM_001371,Z83806 NP_001362,CAI42433,CAI42434,CAI42435,CAI42436,CAI19769,CAI19770,CAI20292,CAI20293,CAI20294,CAI21587,CAI21588,EAX03966,EAX03967,AAK60620,AAN34632,AAN34633,CAA10564,CAB06060,Q8IU65,Q96JB1 Hs.520106 GDB:683309 ATPase|FLJ25850|FLJ36115|FLJ36334|hdhc9 dynein, axonemal, heavy polypeptide 8 protein-coding 1313302 DNAH9 dynein, axonemal, heavy chain 9 This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. 8812413,8703119,11104725,15845866,14702039,12477932,11839535,11247663,11175280,10393427,9205841 1770 NM_001372,NM_004662,AC005209,AC005410,AC005701,CH471108,AB002355,AF015265,AF257737,AJ132088,AJ404468,AK055990,BC128261,BC128421,BC153883,U61740,X99947 NP_001363,NP_004653,EAW89978,EAW89979,EAW89980,EAW89981,EAW89982,EAW89983,BAA21573,AAC27542,AAF69004,CAA10561,CAB94756,AAI28262,AAI28422,AAI53884,AAC50704,CAA68207,O14741,O15064,Q92865,Q99499,Q9NYC9 Hs.567259 GDB:9785683 DNAH17L|DNEL1|DYH9|Dnahc9|HL-20|HL20|KIAA0357 dynein, axonemal, heavy polypeptide 9 protein-coding 1604960 DNAHL1 dynein, axonemal, heavy chain like 1 14702039,12477932 284176 NM_173628,AC016182,AK097776,BC105107,BC112284 NP_775899,BAC05170,AAI05108,AAI12285,Q2M2Y1,Q8N7Q7 Hs.375975 FLJ40457|MGC138489 protein-coding 1346895 DNAI1 dynein, axonemal, intermediate chain 1 The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. This gene encodes an intermediate chain dynein, belonging to the large family of motor proteins. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia (PCD) and Kartagener syndrome. 1601083,1580863 10577904,16858015,15489334,15164053,14702039,12509440,12477932,11893720,11889140,11713099,11231901 1601083 27019 AF190496,AL160270,CH471071,AF091619,AK057687,AK290696,AL117535,BC030583,BM013886,NM_012144 NP_036276,AAF19816,CAI13154,CAI13155,CAI13157,EAW58453,AAF18570,BAF83385,AAH30583,Q5T8G6,Q5T8G8,Q9UI46,ABM92226,ABW03682 Hs.112667 GDB:11500297 CILD1|ICS|MGC26204|PCD dynein, axonemal, intermediate polypeptide 1 protein-coding 1347605 DNAI2 dynein, axonemal, intermediate chain 2 1580863 11153919,12477932 64446 NM_023036,AC103809,AF253088,AF253089,AF253090,AF253091,AF253092,AF253093,AF253094,AF253095,AF253096,AF253097,AF260782,CH471099,AF250288,AJ295276,AL137526,BC033013,BC039582,BI462861 NP_075462,AAG38000,EAW89144,EAW89145,EAW89146,EAW89147,EAW89148,EAW89149,AAG38489,CAC17464,CAB70790,AAH33013,AAH39582,Q4G115,Q8IUW4,Q9GZS0 Hs.147472 GDB:11508371 dynein, axonemal, intermediate polypeptide 2 protein-coding 734413 DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 1580863 15082773,8334160,16236267,15661747,15635413,15595953,15592455,15489334,14667819,12974469,12477932,12150907,11809754,11796717,11147971,10942430,10816573,10075921,9915854,9839446,9192730,8334161,17353931,16189514,14743216 3301 NM_001539,AL162590,CH471071,AJ277242,AK289623,AY186741,BC008182,BI462555,BT007292,CR594165,CR606558,CR611754,CR611988,CR617243,CR625211,D13388,L08069 NP_001530,CAI15553,EAW58524,EAW58525,EAW58526,EAW58527,CAB93148,BAF82312,AAO31694,AAH08182,AAP35956,BAA02656,AAC37517,P31689,Q5T7Q0,Q86TL9,Q9NXZ8,ABM82017,ABW03357 Hs.445203 GDB:9835740 DJ-2|DjA1|HDJ2|HSDJ|HSJ2|HSPF4|hDJ-2 protein-coding 732533 DNAJA2 DnaJ (Hsp40) homolog, subfamily A, member 2 The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. 1580863 9383053,17081983,16344560,15489334,15308774,12477932,11147971,10816573,10651811,10508479,9710638,8889548,14657499 10294 NM_005880,AC018845,CH471092,AF088046,AJ001309,BC013044,BC015809,BU677823,CR600360,CR616567,CR621166,CR622758,DB097731,Y13350 NP_005871,EAW82693,EAW82694,CAA04669,AAH13044,AAH15809,CAA73791,O60884,Q9P1B8 Hs.368078 GDB:9955878 CPR3|DJ3|DJA2|DNAJ|DNJ3|HIRIP4|PRO3015|RDJ2 protein-coding 1315195 DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3 DNAJA3 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] 1580863 9683573,12879007,11719219,18097612,17588722,16713569,16531398,16518412,16327803,16204048,16189514,15879105,15805242,15753086,15601829,15589840,15546961,15489334,15231748,15156195,14993262,14702039,12477932,12118383,12097419,11927590,11707338,11679576,11147971,11116152,11005857,10411904,9373149,8125298,14578343 9093 BC020248,BC030145,BC032100,NM_005147,AC012676,CH471112,AB209923,AF061749,AF244136,AF411044,AK001333,AK127660,AK223105,BC007225,BC011855,BC012343,BC014062 AAH20248,AAH30145,AAH32100,Q53G26,Q59E88,Q96EY1,NP_005138,EAW85303,EAW85304,EAW85305,BAD93160,AAC29066,AAF66245,AAL35323,BAD96825,AAH07225,AAH11855,AAH12343,AAH14062 Hs.459779 GDB:9954859 FLJ45758|TID1|hTid-1 protein-coding 1320703 DNAJA4 DnaJ (Hsp40) homolog, subfamily A, member 4 15489334,14702039,12477932,11147971 55466 NM_018602,AC090607,CH471136,AF116663,AF173388,AK025069,AK090898,AK096616,AK098079,AL133096,AL133431,AL133432,AL133433,AL133434,BC021720,BC031044,BX648710,CR599385 NP_061072,EAW99176,EAW99177,EAW99178,EAW99179,AAF71083,AAQ13629,BAC03540,BAC04828,BAC05229,CAH10713,AAH21720,AAH31044,CAH10558,Q69YX3,Q6AW87,Q7Z4D5,Q8N2A9,Q8N5Z4,Q8WW22,Q9P1H1 Hs.513053 GDB:11508694 MST104|MSTP104|PRO1472 protein-coding 1312336 DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 1580863 8975727,18211704,18032501,16842747,16179353,15489334,15362566,15194794,15075330,14752510,14743183,14702039,14503850,12477932,11821413,11809754,11500375,11457725,11147971,10816573,10593983,10330192,9920933,9727490,9545528,9499401,8764402,8670798,8250930,1754405,1586970,14499622,16189514 3337 NM_006145,AC012318,CH471106,D85429,AK092989,BC002352,BC013157,BC019827,CR536485,CR541677,CR601481,CR602469,CR602555,CR602787,CR605869,CR615749,CR620425,D49547,X62421 NP_006136,EAW84432,EAW84433,BAA12819,AAH02352,AAH19827,CAG38724,CAG46478,BAA08495,CAA44287,P25685,Q6FHS4,Q6FI51 Hs.515210 GDB:3929189 HSPF1|Hdj1|Hsp40|Sis1 protein-coding 1316536 DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 DNAJB11 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a C-terminal cysteine-rich region (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 16130169,17976514,16303743,16236267,16169070,15544163,15525676,15489334,15195998,14702039,12975309,12477932,12475965,11584023,11147971,10827079,17353931,16189514 51726 NM_016306,AC068631,CH471052,CS051241,AB028859,AF228505,AF277317,AJ250137,AK075300,AK075430,AK124289,AY359043,BC001144,BC046500,BT007063,CR457096,CR595918,CR599525,CR599807,CR602418,CR609150,CR610081,CR613565,CR622358,CR623667 ABM84795,ABM92218,NP_057390,EAW78190,CAI72116,BAA88307,AAF61711,AAK69110,CAB65118,BAC11533,BAC11617,AAQ89402,AAH01144,AAP35712,CAG33377,Q9UBS4 Hs.317192 GDB:11500249 ABBP-2|ABBP2|DJ9|EDJ|ERdj3|ERj3|HEDJ|PRO1080|UNQ537|hDj9 protein-coding 1348292 DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 15489334,14702039,12477932,11147971,9373149,8125298 54788 NM_017626,AC091769,CH471083,AK000034,AK025942,AK027259,AK225051,AL050381,AL833358,BC011812,BC064920,BI520000,BQ935010,NM_001002762,CR597632,CR606618 NP_001002762,NP_060096,EAW54454,EAW54455,EAW54456,BAA90896,BAB15289,CAH56413,AAH11812,AAH64920,Q659G2,Q9NXW2 Hs.696014 GDB:11508696 DJ10|DKFZp586B2023 protein-coding 1603338 DNAJB13 DnaJ (Hsp40) related, subfamily B, member 13 DNAJA13 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins. For background information on the DNAJ family, see 608375.[supplied by OMIM] 12673577,14970903,14702039 374407 AF516185,AK058095,AK128589,AY138810,NM_153614,AP003717,CH471076 AAP47195,BAC87515,AAN15929,P59910,AAI41491,AAI53177,NP_705842,EAW74920,EAW74921 Hs.567888 FLJ46748|TSARG5|TSARG6 protein-coding 1605332 DNAJB14 DnaJ (Hsp40) homolog, subfamily B, member 14 15815621,15489334,14702039,12975309,12477932 79982 NM_024920,NM_001031723,AC097460,CH471057,AK023700,AK024343,AL833076,AL833412,AY186740,AY358272,BC022248,BX537609 NP_079196,NP_001026893,AAY41012,EAX06114,EAX06115,EAX06116,EAX06117,BAB14645,BAB14893,CAD89928,AAO31693,AAQ88639,AAH22248,CAD97796,Q8TBM8 Hs.577426 EGNR9427|FLJ14281|MGC22187|PRO34683 protein-coding 1626575 DNAJB1P DnaJ (Hsp40) homolog, subfamily B, member 1 pseudogene 14503850,12957361,12835518,11916264 171221 NG_001318,AB055808,AC098872 HSP40|psiHSP40 pseudo 1318848 DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 1580863 1599432,17847007,16604191,15936278,15489334,15231748,14759258,12754272,12477932,12107410,11147971,10516435,8889548,14751250,16189514 3300 NM_001039550,AC114803,CH471063,X63368,AK289626,AK292761,AL547521,BC011609,BC040494,BC047056,BF795662,BM689272,BT007088,BX420085,BX478051,CA392563,CR592079,CR592152,CR592153,CR599826,NM_006736,CR604012,CR605175,CR610861,CR610990,CR613430,CR618860,S37374,S37375 NP_006727,NP_001034639,AAY24037,EAW70722,EAW70723,CAA44968,CAA44969,BAF82315,BAF85450,AAH11609,AAH47056,AAP35751,AAA09035,AAA09034,P25686,Q53QD7 Hs.77768 GDB:6775092 HSJ1|HSPF3 protein-coding 1314092 DNAJB4 DnaJ (Hsp40) homolog, subfamily B, member 4 DNAJB4 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] 1580863 9546042,16788156,16542645,15782117,15661747,15592455,15489334,12477932,11147971 11080 NM_007034,AC103591,AY669319,CH471059,U41290,AB209922,BC034721,CR604945,U40992 NP_008965,AAT70409,EAX06354,EAX06355,AAB07346,BAD93159,AAH34721,AAC14483,Q59E89,Q6DKZ0,Q9UDY4,ABM82080,ABM85259 Hs.13852 GDB:9956432 DNAJW|DjB4|HLJ1 protein-coding 1316654 DNAJB5 DnaJ (Hsp40) homolog, subfamily B, member 5 DNAJB5 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. For background information on the DNAJ family, see MIM 608375.[supplied by OMIM] 1580863 10570961,14702039,12477932,11147971 25822 NM_012266,AL355377,CH471071,AF087870,AF088982,AK023253,BC012115,BX419166 NP_036398,CAI13807,CAI13809,CAI13810,EAW58407,AAM10498,AAC35860,AAH12115,O75953,Q5T657,Q5T659,ABM83118,ABM86314 Hs.237506 GDB:11508695 Hsc40|KIAA1045 protein-coding 1349519 DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. 1580863 12974469,12853948,12690205,12477932,12069690,11230166,11147971,11076863,10319584,9373149,8125298,16189514,11896048,10954706,17081983,16381901,16260608,15489336,15489334,15342353,15182641,14702039 10049 NM_058246,AC006372,AC079306,CH236954,CH471149,AB014888,AB015798,AB015799,AB209859,AF060703,AF075601,NM_005494,AK055429,AK093837,AK124827,AK223601,AK291953,AK293025,AL136707,AL832124,BC000177,BC002446,BC018175,BC043270,BC110289,CR533498,CR595381,CR598045,CR599888,CR606288,CR609360,CR610847,CR612433,CR613849,CR619720,CR620355,CR625132,EU075177 Q75MP3,CAL37426,CAL37619,CAL38226,NP_005485,NP_490647,AAS07521,AAS07392,AAS07393,EAL23923,EAL23924,EAX04570,EAX04571,BAA32209,BAA88769,BAA88770,BAD93096,AAF21257,AAD43194,BAD97321,BAF84642,BAF85714,CAB66642,AAH00177,AAH02446,AAH43270,CAG38529,ABU54861,O75190,Q0JVN4,Q49A72 Hs.490745,Hs.593923 GDB:9954930 DJ4|DKFZp566D0824|DnaJ|FLJ42837|HHDJ1|HSJ-2|HSJ2|MGC1152|MGC117297|MRJ|MSJ-1 protein-coding 1353448 DNAJB7 DnaJ (Hsp40) homolog, subfamily B, member 7 DNAJB7 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 737633 15489334,15461802,12477932,11147971,10591208 737633 150353 CH471095,AF085232,BC112135,CR456468,NM_145174 EAW60401,AAL40391,AAI12136,CAG30354,Q7Z6W7,CAK54449,CAK54748,NP_660157 Hs.585042 DJ5|HSC3|MGC138340 protein-coding 1343992 DNAJB8 DnaJ (Hsp40) homolog, subfamily B, member 8 DNAJB8 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 15489334,12477932,11147971 165721 NM_153330,AC080005,CH471052,AK125946,AK126068,BC029521,BC050288 NP_699161,EAW79320,AAH29521,AAH50288,Q8NHS0 Hs.518241 DJ6|MGC33884 protein-coding 737476 DNAJB9 DnaJ (Hsp40) homolog, subfamily B, member 9 1580863 12477932,11836248,11525638,11230166,11147971,11042152,9533036,11256614,16169070,15489334,15456888,14702039,14516790,12975309,12690205 4189 NM_012328,AC005058,AC005487,CH236947,CH471070,CQ834856,AB026908,AF083247,AF093824,AK092204,AL080081,AY359045,BC028912,CR533475,CR613647,CR618176,CR624093 NP_036460,AAD08848,EAL24382,EAW83438,EAW83439,EAW83440,EAW83441,CAH05643,BAA84703,AAD39845,AAP97220,CAB45701,AAQ89404,AAH28912,CAG38506,O95037,Q6FIF1,Q9UBS3,ABM85902,ABW03749 Hs.6790 GDB:6802330 DKFZP564F1862|ERdj4|MDG1|MST049|MSTP049 dnaj homolog, subfamily b, member 9 protein-coding 1318035 DNAJC1 DnaJ (Hsp40) homolog, subfamily C, member 1 1580863 14702039,14667819,12477932,10777498,14668352,16271702,15489334,15164054 64215 AL359697,AL445431,NM_022365,CH471072,AF427142,AK026062,AK027263,AY225122,BC014436,BC030955,BC110894,BC139752,CR613772 NP_071760,CAH73412,CAI13666,CAI13667,CAI13668,EAW86160,AAL24046,BAB15343,BAB55004,AAP50497,AAI10895,AAI39753,Q5T1X2,Q5T1X3,Q96KC8,Q96NY3 Hs.499000 DNAJL1|ERdj1|HTJ1|MGC131954 protein-coding 1317224 DNAJC10 DnaJ (Hsp40) homolog, subfamily C, member 10 1580863 16303743,16189514,15815621,15489334,14702039,14587667,12975309,12477932,12446677,12411443 54431 AY089971,AY358577,AL832646,NM_018981,AC073951,AC105396,AY010234,CH471058,AF038503,AF314529,AF490904,AK027450,AK027647,AK027696,AK027701,AK074905,AL137648,AL832267,AL832632,BC034713,BC070034,BC107425,BC117299,BC126168,CR622187 CAD89982,AAM09954,AAQ88940,AAX88931,AAY24240,AAG32626,NP_061854,EAX10959,EAX10960,EAX10961,EAX10962,EAX10963,EAX10964,AAN73271,AAQ14565,AAM09527,BAB55121,BAB55263,BAB55304,BAC11281,CAB70858,AAH34713,AAI07426,AAI17300,AAI26169,Q3B7W8,Q6YPB0,Q71S60,Q86XS7,Q8IXB1,Q8N4C5,Q96K36 Hs.516632 DKFZp434J1813|ERdj5|JPDI|MGC104194 protein-coding 1317094 DNAJC11 DnaJ (Hsp40) homolog, subfamily C, member 11 17624330,17222547,16710414,15489334,14702039,12964007,12477932,9110174,8619474 55735 NM_018198,AL031447,AL159177,CH471130,AK001599,AK025491,AK093709,AK095386,AL109978,AL833841,AY336749,BC006086,BC008772,BC014145,CR603964,AF052158,AF306694,AF306695,AF306696 NP_060668,CAI19464,CAI19465,CAI19466,CAI19467,CAH71591,CAH71592,CAH71593,BAA91780,CAB53376,CAD38701,AAR02411,AAH06086,AAH08772,AAH14145,Q5TH61,Q9NVH1,Q9UMU8,EAW71570,EAW71571,EAW71572 Hs.462640 FLJ10737|RP1-126A5.3|dJ126A5.1 protein-coding 1602472 DNAJC12 DnaJ (Hsp40) homolog, subfamily C, member 12 This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. 17373700,16391838,15489334,15164054,12477932,10760603 56521 NM_021800,NM_201262,AL133551,CH471083,AF176012,AF176013,AK289537,BC017018,CB121724,CR457184,CR594852 NP_068572,NP_957714,CAC04172,CAI16033,EAW54255,EAW54256,EAW54257,AAD52650,AAD52651,BAF82226,AAH17018,CAG33465,Q5JVQ1,Q6IAH1,Q9UKB3 Hs.260720 JDP1|RP11-57G10.2 protein-coding 1317589 DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13 18307993,16179350,15489334,15302935,15051737,14702039,12477932,12438707,9734811 23317 AC020632,AC020633,AC026374,CH471052,AB014578,AI189887,AK023168,AK098729,AK125330,AK127112,AY369172,AY779857,BC000164,NM_015268,BC009630,BC033782,BC040638,BC043583,BC065756,BC105580,BC151246 NP_056083,EAW79198,EAW79199,BAA31653,BAC05394,BAC86133,BAC86835,AAQ57271,AAV41096,AAH00164,AAH09630,AAH40638,AAH43583,AAI05581,AAI51247,O75165,Q0D2M7,Q3L0T1,Q8N7A5 Hs.12707 FLJ25863|KIAA0678|RME8 protein-coding 1349604 DNAJC14 DnaJ (Hsp40) homolog, subfamily C, member 14 632650 16344560,15489334,14993367,14702039,12768437,12477932,12446598,11984006,11331877 632650 85406 DA127901,EF560741,NM_032364,AC023055,CH471054,AF141342,AF351784,AK055945,AK057354,AK123025,AK291222,AY188447,BC016941,BC080655,BC117146,BC117148 ABQ59051,Q6Y2X3,Q96M65,NP_115740,EAW96833,EAW96834,EAW96836,AAG49445,AAK56241,BAB71050,BAB71445,BAF83911,AAO73451,AAH80655,AAI17147,AAI17149 Hs.505676 DNAJ|DRIP78|HDJ3|LIP6 protein-coding 1316177 DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15 18324624,17283040,16049974,15489334,15057823,14729589,12477932,11358853 29103 NM_013238,AL445217,CH471075,AF126743,AY248898,AY512565,BC010910,BC095400,CA444534,CR624365 NP_037370,CAI13480,EAX08688,AAD38506,AAP20049,AAS80157,AAH10910,AAH95400,Q5T220,Q9Y5T4 Hs.438830 DNAJD1|HSD18|MCJ dnaj (hsp40) homolog, subfamily d, member 1 protein-coding 1603691 DNAJC16 DnaJ (Hsp40) homolog, subfamily C, member 16 16710414,15489334,14702039,12477932,12168954,10231032 23341 NM_015291,AL121992,AL512883,CH471167,AB023179,AK022530,AK023805,AK091848,AK292479,AL137715,AL833299,BC031991,BC047363,BX648982,CR749259,CR749567 NP_056106,CAI22370,CAI22371,CAI22372,CAI12975,CAI12976,CAI12977,EAW51732,EAW51733,EAW51734,BAA76806,BAF85168,AAH31991,AAH47363,CAH18115,CAH18363,Q5TDG8,Q5TDG9,Q5TDH4,Q9Y2G8 Hs.655410 DKFZp686G1298|DKFZp686N0387|DKFZp781I1547|KIAA0962|RP4-680D5.1 protein-coding 1602696 DNAJC17 DnaJ (Hsp40) homolog, subfamily C, member 17 17081983,15489334,14702039,12477932 55192 NM_018163,AC012476,CH471125,AK001496,BC000048 NP_060633,EAW92444,EAW92445,BAA91724,AAH00048,Q9NVM6 Hs.511069 FLJ10634 protein-coding 1602641 DNAJC18 DnaJ (Hsp40) homolog, subfamily C, member 18 15489334,14702039,12477932 202052 NM_152686,AC142391,CH471062,AK001329,BC030162 NP_689899,EAW62102,AAH30162,Q9H819 Hs.483537 MGC29463 protein-coding 1603908 DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 16055927,12592411,17244376,15489334,14517234,12477932,10737800,8889548 131118 NM_145261,AC008009,CH471052,AI268262,AW161751,BC009702,BC073989,BE773017,BF666599,BG492744,BM701756,BU685935,CB054787,CR615985 NP_660304,EAW78358,EAW78359,EAW78360,EAW78361,EAW78362,EAW78363,EAW78364,AAH09702,AAH73989,Q96DA6 Hs.230601 TIM14|TIMM14 protein-coding 734039 DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21 17081983,15489334,15067379,14702039,12477932 134218 NM_194283,NM_001012339,AC008795,AC026801,CH471119,CS300535,AK022694,AK054651,AK127749,AY177688,AY258422,BC050472,BC065745,BC107577,BX648765,CR610463 NP_919259,NP_001012339,EAW55911,CAK32199,BAC87112,AAO46910,AAP81807,AAH50472,AAH65745,AAI07578,Q5F1R6,AAI41524 Hs.131887 DNAJA5|GS3|JJJ1 DnaJ homology subfamily A member 5|putative regulation protein gs3 protein-coding 1347817 DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 The protein encoded by this gene contains multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). 1580863 7511204,8666242,15489334,15057823,12601012,12477932,12446838,12034040,11939789,11526399,11147971,9920933,9447982,8824808,8824806,8576172,16189514 5611 NM_006260,AL138955,AY795482,CH471085,AK292947,BC033823,BC047936,CR601256 NP_006251,CAH70090,AAV40838,EAX08959,BAF85636,AAH33823,AAH47936,Q13217 Hs.656476 GDB:636841 HP58|P58|P58IPK|PRKRI protein-coding 1318614 DNAJC4 DnaJ (Hsp40) homolog, subfamily C, member 4 1580863 9473517,15489334,12477932,11147971 3338 NM_005528,AP001453,AP005668,AP006334,CH471076,AF012106,AF036874,BC010145,BC032137,BC044584,BC051008,BC053947,BC057849,BI561130 NP_005519,EAW74212,EAW74213,EAW74214,EAW74215,EAW74216,EAW74217,EAW74218,EAW74219,EAW74220,AAB82426,AAF97845,AAH10145,AAH32137,AAH44584,AAH51008,AAH57849,Q6PIN0,Q96FY5,Q9NNZ3,Q86VG4 Hs.172847 GDB:6053893 DANJC4|HSPF2|MCG18|MGC19482|MGC57189|MGC71863 protein-coding 1344057 DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5 1580863 17081065,16469739,15972823,15610015,15489334,14997482,14702039,14570907,12477932,12039948,11780052,11604405,11214971,10194413,8764987 80331 NM_025219,AL118506,CH471077,AK023132,AK024508,AK074041,AK128776,AK289585,AL137301,BC009922,BC028570,BC053642,CR595822,CR607484,CR627461 NP_079495,CAC15495,EAW75191,EAW75192,EAW75193,BAB15798,BAB84867,BAF82274,AAH53642,CAH10594,Q6AHX3,Q8TET0,Q9H3Z4 Hs.164419 GDB:11505964 CSP|DKFZP434N1429|DKFZp761N1221|FLJ00118|FLJ13070 protein-coding 1348913 DNAJC5B DnaJ (Hsp40) homolog, subfamily C, member 5 beta 737633,1580863 17034881,15489334,12477932 737633 85479 NM_033105,AC084082,CH471068,AF368276,AL133660,BC016742,BG701336,BU627018,CR607613 NP_149096,EAW86887,EAW86888,EAW86889,AAK60571,CAB63773,AAH16742,Q9UF47 Hs.491885 CSP-beta|MGC26226 protein-coding 1316617 DNAJC5G DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 1580863 15489334,14702039,12477932 285126 NM_173650,AC013413,CH471053,AF368277,AK097736,BC035194 NP_775921,AAY24295,EAX00608,EAX00609,AAK60572,BAC05155,AAH35194,Q53SY5,Q8N7S2 Hs.116303 CSP-gamma|FLJ40417 protein-coding 1320495 DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 16710414,15489334,15342556,12477932,11470803,11147971,9455484,9455477,12732633 9829 AC119800,AL139294,AL355487,CH471059,AB007942,BC051722,BC109279,BC109280,BP311649,BQ423527,BX647203,CR747692,NM_014787 NP_055602,EAX06533,EAX06534,EAX06535,EAX06536,EAX06537,BAA32318,AAH51722,AAI09280,AAI09281,O75061 Hs.647643 GDB:9958305 DJC6|KIAA0473|MGC129914|MGC129915|MGC48436 protein-coding 1349384 DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 DNAJC7 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM] 1580863 8836031,16381901,15592455,15489336,15489334,12853476,12477932,11230166,11147971,11076863,16189514,11573955 7266 NM_003315,AC105024,AC125257,CH471152,AB209834,AK291047,BC003601,BC011837,BC033772,BX647209,CR594610,CR600431,CR609021,CR615988,CR620632,CR622093,U46571 Q0JSX6,Q59EH7,Q7Z784,Q99615,CAL38388,ABM83990,ABM87316,NP_003306,EAW60788,EAW60789,BAD93071,BAF83736,AAH03601,AAH11837,AAH33772,AAB36872 Hs.500156 GDB:9773279 DANJC7|DJ11|TPR2|TTC2 protein-coding 1314401 DNAJC8 DnaJ (Hsp40) homolog, subfamily C, member 8 1580863 12226669,16710414,16344560,15635413,15489334,12477932,11790298,11147971 22826 NM_014280,AL353354,AL353622,CH471059,AF083190,AF161433,AF161449,BC033159,BX538122,CR456900,CR590118,CR590514,CR599047,CR599576,CR599943,CR607856,CR608396,CR610662,CR614495,CR614753,CR615456,CR619944,DB294321 NP_055095,EAX07707,EAX07708,EAX07709,EAX07710,AAC35352,AAF28993,AAF29009,AAH33159,CAG33181,O75937 Hs.433540 GDB:9957165 HSPC331|SPF31 protein-coding 1351151 DNAJC8P1 DnaJ (Hsp40) homolog, subfamily C, member 8 pseudogene 1 319111 NG_002493,AL133163 pseudo 1312781 DNAJC9 DnaJ (Hsp40) homolog, subfamily C, member 9 1580863 17182002,14702039,11444854,10231032 23234 NM_015190,AC016394,CH471083,AF327347,AK074420,AK094162,BC136507 NP_056005,EAW54483,EAW54484,EAW54486,AAL56008,BAB85076,AAI36508,Q8WXX5 Hs.654694 GDB:9955408 HDJC9|JDD1|KIAA0974|SB73 protein-coding 1320134 DNAL1 dynein, axonemal, light chain 1 DNAL1 is a component of outer dynein arms, which contain the molecular motors for ATP-dependent cilia movement (Horvath et al., 2005 [PubMed 15845866]).[supplied by OMIM] 737633 15845866,15489334,12477932 737633 83544 NM_031427,AC005225,AC006146,CH471061,AF542071,AI242197,AK026653,AL833654,BC005343 NP_113615,EAW81123,EAW81124,AAQ11377,CAI46147,AAH05343,Q4LDG9 Hs.525445 C14orf168|MGC12435 chromosome 14 open reading frame 168 protein-coding 1319248 DNAL4 dynein, axonemal, light chain 4 DNAL4 is a component of the dynein motor complex (Iwasaki et al., 2005 [PubMed 15454493]).[supplied by OMIM] 1580863 11157096,16189514,15489334,15461802,15454493,12529303,12477932,10591208,9373149,8125298 10126 AL008583,CH471095,CS185552,AK223349,AK290566,AL035366,AY453399,BC002968,BT009847,BX473356,CR456487,NM_005740,CR542177,CR542195,CR602893,CR606519,CR607444 NP_005731,CAA15429,EAW60272,CAJ42733,BAD97069,BAF83255,CAA23018,AAS47516,AAH02968,AAP88849,CAG30373,CAG46974,CAG46992,O96015,Q53FE0,Q6FGB2,Q6FGD0,CAK54478,CAK54777 Hs.632766 GDB:9955277 PIG27 protein-coding 1319504 DNALI1 dynein, axonemal, light intermediate chain 1 This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. 1580863 9284741,16990435,16710414,15489334,12477932,9373149,8125298 7802 AF006386,AI128097,AK126963,AK225935,AK290502,BC039074,BC046117,BX647913,NM_003462,AL034379,CH471059 EAX07334,EAX07335,EAX07336,AAB69193,BAF83191,AAH39074,AAH46117,CAI46082,O14645,Q5HYE2,NP_003453,CAI20553 Hs.406050 GDB:9834029 P28|dJ423B22.5|hp28 dynein, axonemal, light intermediate polypeptide 1 protein-coding 736197 DNASE1 deoxyribonuclease I This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 12849983,2349940,18311594,18174230,17588132,17405189,17360785,17320453,17032129,16877481,16771825,16449364,16382368,16352456,15711563,15616553,15489334,15363449,15333586,15188364,14702039,14688237,14613299,12708782,12477932,12005024,11707283,11479590,11474115,11332641,11241278,10381379,9420147,8792814,8586059,7867802,7789176,7762978,7625762,3263467,2921043,2395459,2277032,2251263 1773 M55983,NM_005223,AC005203,AC006111,CH471112,D83195,AB188151,AB188152,AI378682,AJ298844,AK095412,AK126850,BC015002,BC029437,BC064332,BC095475,BX648257,BX648480 AAA63170,P24855,Q14UU9,Q14UV0,Q8N1N6,ABM83024,ABM86217,NP_005214,AAC24721,EAW85343,EAW85344,BAA11841,BAE96964,BAE96965,CAC12813,BAC04544,AAH29437 Hs.629638,Hs.657504 GDB:132846 DKFZp686H0155|DNL1|DRNI|FLJ38093|FLJ44902 protein-coding 1348755 DNASE1L1 deoxyribonuclease I-like 1 This gene encodes a member of the deoxyribonuclease family and the protein shows high sequence similarity to lysosomal DNase I. Alternate transcriptional splice variants, encoding the same protein, have been characterized. 1580863 16381901,16107205,15772651,15489336,15489334,15146197,12477932,11076863,10409440,8733135,8654957,8541839,9205125,17180083 1774 NM_001009934,NM_001009933,NM_001009932,NM_006730,BX936347,CH471172,L40817,AL079680,BC001561,BC028092,BG468580,BI756240,BT019990,CN346700,CR621453,L40823,U06846,X90392,X90393 NP_001009934,NP_001009933,NP_001009932,NP_006721,CAI43204,CAI43205,EAW72731,EAW72732,EAW72733,EAW72734,EAW72735,AAB00495,AAH01561,AAH28092,AAV38793,AAB00496,AAB17022,CAA62037,P49184,Q0JUW8,Q5HY40,Q5TZW2,CAL37693,ABM82607,ABM85792 Hs.401929 GDB:567391 DNAS1L1|DNASEX|DNL1L|XIB protein-coding 1318821 DNASE1L2 deoxyribonuclease I-like 2 1580863 9205125,17490414,16902420,15489334,15203207,14702039,12477932,11141064,1577479 1775 NM_001374,AC009065,AY298958,CH471112,AK098028,AY298957,BC035205,BC063710,U62647 NP_001365,AAQ73760,AAQ73761,EAW85526,EAW85527,EAW85528,EAW85529,AAQ73759,AAH35205,AAH63710,AAB63981,Q6JVM2,Q6JVM3,Q92874 Hs.103503 GDB:6108044 DNAS1L2 protein-coding 733865 DNASE1L3 deoxyribonuclease I-like 3 This gene encodes a member of the DNase family. The protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 9070308,9205125,16427601,15629432,15489334,14725611,14702039,14646506,12943533,12477932,12154052,12095301,11141064,9714828,8093058 1776 NM_004944,AC137936,CH471055,AB209613,AF047354,AI591302,AK097120,AK131323,BC015831,BI834035,CR602169,CR607614,U56814 NP_004935,EAW65358,EAW65359,BAD92850,AAC35752,AAH15831,AAB63967,Q13609,Q59F48,ABM83776,ABM87096 Hs.476453 GDB:6108045 DHP2|DNAS1L3|LSD protein-coding 1343662 DNASE2 deoxyribonuclease II, lysosomal This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. 1580863 9714827,17353931,17192590,16303743,15723160,15489334,15057824,12944971,12754519,12694199,12594037,12558498,12477932,12147225,11906178,10903447,10675544,10080942,9924608,9812984,9647784,9535749,9446563,6248503,1586130,1540651 1777 NM_001375,AB008564,AC020934,AD000092,CH471106,AB004574,AF045937,AF047016,AF060222,AK075449,BC010419,BC065209,BT007047,BX394955,CR605842,CR608424,CR612006,CR616269,CR617284 NP_001366,BAB55598,AAB51172,EAW84320,EAW84321,EAW84322,BAA28623,AAC35751,AAC77366,AAC39852,AAH10419,AAP35696,O00115,AAH65209 Hs.118243 GDB:119099 DNASE2A|DNL|DNL2 protein-coding 1607010 DNASE2B deoxyribonuclease II beta The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. 12944971,12594037,12477932,11700027,11376952 58511 NM_021233,NM_058248,AF334602,AL359273,CH471097,AF274571,AF333389,BC065182,BC080621,BC126136,BC126138 A0AUY7,Q5VXD0,Q5VXD1,Q66K39,Q8WZ79,NP_067056,NP_490649,AAL34449,CAH73126,CAH73127,EAW73238,EAW73239,AAF76893,AAL34448,AAH80621,AAI26137,AAI26139 Hs.129142 DLAD protein-coding 735307 DNCH2 dynein, cytoplasmic, heavy chain 2 1779 1352816 DNCL1P1 dynein, cytoplasmic, light polypeptide 1 pseudogene 1 338455 1349738 DNCL1P2 dynein, cytoplasmic, light polypeptide 1 pseudogene 2 338456 1352622 DNCM DNA associated with cytoplasmic membrane 1061086,6278420 1784 GDB:119098 1321748 DND1 dead end homolog 1 (zebrafish) 1580863 18155131,18069663,15902260,15489334,12932328,12477932 373863 NM_194249,AC116353,CH471062,AY321065,BC033496 NP_919225,EAW62027,AAQ63635,AAH33496,Q8IYX4,ABM83381,ABM86593,ABW03668 Hs.591262 MGC34750|RBMS4 protein-coding 1349489 DND1P1 dead end homolog 1 pseudogene 1 406878 1348677 DND1P2 dead end homolog 1 pseudogene 2 406879 1605895 DNER delta/notch-like EGF repeat containing 11950833,16740002,16344560,15815621,15489334,12975309,12477932,11997712,9847074 92737 NM_139072,AC007559,AC007748,AC008273,AC093384,CH471063,AF442487,AK289553,AL137311,AY358891,BC024766,BC035009,DA115906,DA400901 NP_620711,AAY14939,AAY24263,AAF19247,AAY14680,EAW70892,EAW70893,EAW70894,EAW70895,AAM21557,BAF82242,CAB70690,AAQ89250,AAH24766,AAH35009,Q8NFT8 Hs.234074 UNQ26|bet protein-coding 1601824 DNHD1 dynein heavy chain domain 1 14702039,12975309,12477932 144132 BC117303,NM_144666,AC009796,CH471064,AB290171,AK057314,AK128064,AL137690,AL834222,AY358770,BC067363,BC082757,BC117301 AAI17304,Q96M86,Q9NSW8,NP_653267,EAW68692,EAW68693,EAW68694,EAW68695,EAW68696,EAW68697,BAG06725,BAB71423,CAB70876,AAQ89130,AAI17302 Hs.424183 DHCD1|FLJ32752|FLJ46184 protein-coding 1603257 DNHD2 dynein heavy chain domain 2 11181995,14702039 201625 XM_001134410,XM_001134433,AC093928,AC121250,CH471055,AK097746,AK128592 XP_001134433,XP_001134410,EAW65339,EAW65340,BAC05158,BAC87517,Q6ZR08 Hs.201378 FLJ40427 protein-coding 1603156 DNHL1 dynein heavy chain-like 1 14702039,12477932 284944 AK094676,BC104884,BC113424,AC096770,CH471053,NM_173645 BAC04400,AAI04885,AAI13425,AAY24108,EAW99556,EAW99557,NP_775916 Hs.376334 FLJ37357 hypothetical protein flj37357 protein-coding 2289758 DNLZ DNL-type zinc finger 12477932 728489 NM_001080849,AL592301,BC146915 NP_001074318,CAI13929,CAI13930,AAI46916,Q5SXM8 Hs.528581 C9orf151|MGC87491|ZIM17|bA413M3.2 protein-coding 733748 DNM1 dynamin 1 This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. 70725,1580863 10944110,8101525,17910478,17170701,16938290,16622417,16432212,16169070,15872089,15592455,15262989,15252117,15252009,15146195,15123615,15004222,14739229,14702039,14506234,12896979,12855954,12517701,12511974,12477932,12419186,12383797,12359736,12011079,11956154,11877424,11872741,11782545,11563969,11557983,11483962,11341978,11242086,11179417,11082044,11038180,10931822,10899172,10862698,10766777,10764144,10430869,10373452,10336464,10206341,9950691,9880482,9694653,9463375,9373149,9348539,9280305,9238017,9195986,9148966,9143509,8308025,8125298,8119878,7954789,7850421,7634088,2144893,11894096 70725 1759 NM_001005336,NM_004408,AL590708,CH471090,AB209124,AI660320,AK096629,AK127038,AK225179,BC050279,BC063850,CR592374,L07807,L07808,L07809,L07810 NP_001005336,NP_004399,CAI13837,CAI13839,EAW87759,EAW87760,BAD92361,BAC86798,AAH50279,AAH63850,AAA02803,AAA02804,AAA02805,AAA02806,Q05193,Q59GI5,Q6ZSZ8 Hs.522413 GDB:132857 DNM protein-coding 1343943 DNM1DN10@ DNM1 duplicon 10 cluster 15008788 387545 1346567 DNM1DN11@ DNM1 duplicon 11 cluster 15008788 387546 1343429 DNM1DN12@ DNM1 duplicon 12 cluster 15008788 387547 1350627 DNM1DN13 DNM1 duplicon 13 15008788 387548 1347520 DNM1DN14@ DNM1 duplicon 14 cluster 15008788 387549 1351455 DNM1DN15@ DNM1 duplicon 15 cluster 15008788 387550 1353201 DNM1DN16@ DNM1 duplicon 16 cluster 15008788 387551 1348829 DNM1DN17 DNM1 duplicon 17 15008788 387552 1351640 DNM1DN18 DNM1 duplicon 18 15008788 387553 1343725 DNM1DN19 DNM1 duplicon 19 15008788 387554 1353852 DNM1DN1@ DNM1 duplicon 1 cluster 15008788 387536 1346994 DNM1DN20 DNM1 duplicon 20 15008788 387555 1352851 DNM1DN21 DNM1 duplicon 21 15008788 387556 1343454 DNM1DN22 DNM1 duplicon 22 15008788 387557 1353831 DNM1DN2@ DNM1 duplicon 2 cluster 15008788 387537 1351847 DNM1DN3@ DNM1 duplicon 3 cluster 15008788 387538 1351183 DNM1DN4@ DNM1 duplicon 4 cluster 15008788 387539 1346176 DNM1DN5 DNM1 duplicon 5 15008788 401814 1349651 DNM1DN6 DNM1 duplicon 6 15008788 387541 1346865 DNM1DN7@ DNM1 duplicon 7 cluster 15008788 387542 1344898 DNM1DN8@ DNM1 duplicon 8 cluster 15008788 387543 1354101 DNM1DN9 DNM1 duplicon 9 15008788 387544 733618 DNM1L dynamin 1-like The protein encoded by this gene is a member of the dynamin superfamily of GTPases. Members of the dynamin-related subfamily, including the S. cerevisiae proteins Dnm1 and Vps1, contain the N-terminal tripartite GTPase domain but do not have the pleckstrin homology or proline-rich domains. This protein establishes mitochondrial morphology through a role in distributing mitochondrial tubules throughout the cytoplasm. The gene has 3 alternatively spliced transcripts encoding different isoforms. These transcripts are alternatively polyadenylated. 1580863 9570752,12861026,9731200,12499352,9786947,17718388,17682056,17606867,17553808,17332775,17301055,16010987,15824135,15791210,15383276,15364948,15356267,14741701,12668660,12618434,12499366,12477932,11514614,9742220,9422767,9348079,16189514 10059 NM_012063,NM_005690,AC084824,AC087588,CH471116,NM_012062,AB006965,AB209070,AF000430,AF061795,AF151685,AK291094,BC024590,BC107763,CR612950 NP_036192,NP_036193,NP_005681,EAW88519,EAW88520,EAW88521,EAW88522,EAW88523,EAW88524,EAW88525,EAW88526,EAW88527,BAA22193,BAD92307,AAC23724,Q32Q67,Q59GN9,ABM82470,ABM85658,AAC35283,AAD39541,BAF83783,AAH24590,AAI07764,O00429 Hs.556296 GDB:9958967 DLP1|DRP1|DVLP|DYMPLE|HDYNIV|VPS1 protein-coding 730970 DNM2 dynamin 2 Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Four alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. 1580863 7590285,11583995,10893263,10101292,18236001,18003703,17932957,17825552,17702746,17702744,17636067,17626097,17565002,17412836,16556602,16551695,16325581,16227997,16049137,11483962,10477567,9143510,12624098,12952949,15731758,15696170,15545517,15489334,15483625,15302935,15299020,15231748,15231747,15057824,14760703,14702039,12668728,12517701,12511974,12481986,12477932,12456676,15895076,12419186,12383797,12029088,11782545,11533912,11502744 1785 NM_004945,NM_001005361,NM_001005362,AC007229,AC011475,AC011552,AC011554,AC112707,CH471106,AB209213,AK023207,AK092344,AK094984,AK097875,AK097967,AK097989,AK124881,AK126192,AK127033,NM_001005360,AK289831,BC039596,BC054501,BM148999,CR626015,L36983 NP_001005360,NP_004936,NP_001005361,NP_001005362,AAD23603,AAD23604,EAW84144,EAW84145,EAW84146,EAW84147,EAW84148,EAW84149,EAW84150,EAW84151,BAD92450,BAC05190,BAC85978,BAC86481,BAC86797,BAF82520,AAH39596,AAH54501,AAA88025,P50570,Q59G96,Q6ZSZ9,Q6ZTU8,Q6ZV85,Q8N1K8,Q9UPH5 Hs.211463 GDB:696233 CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII protein-coding 1354127 DNM3 dynamin 3 Members of the dynamin family, such as DNM3, possess mechanochemical properties involved in actin-membrane processes, predominantly in membrane budding (Orth and McNiven, 2003 [PubMed 12517701]).[supplied by OMIM] 1580863 15252009,18033314,17880892,16710414,16381901,15489336,14762214,14760703,14702039,12517701,12511974,12477932,12383797,12168954,11230166,11076863,10048485,9808459 26052 NM_015569,AL031864,AL121984,AL133514,AL137157,AL445990,AL512843,CH471067,AB020627,AK056279,AL035110,AL136712,BC037326,BC047089,BC064546,BQ723087 NP_056384,CAI22006,CAI22007,CAI22008,EAW90915,EAW90916,EAW90917,EAW90918,EAW90919,EAW90920,EAW90921,EAW90922,BAA74843,CAB66647,AAH64546,Q5W128,Q6P2G1,Q9UQ16,CAL38543,CAL38721 Hs.654775 Dyna III|KIAA0820|MGC70433 protein-coding 1349665 DNMBP dynamin binding protein DNMBP belongs to the DBL (MIM 311030) family of guanine nucleotide exchange factors and plays a role in the regulation of cell junctions (Otani et al., 2006 [PubMed 17015620]).[supplied by OMIM] 18452187,18359537,17442457,17015620,16740596,15489334,15302935,14506234,12477932,10231032 23268 NM_015221,AL392107,AL441886,AL627434,CH471066,AA771860,AB023227,AK128576,AL833283,AY196211,BC041628,CR597882 NP_056036,CAI11009,CAI13197,EAW49849,EAW49850,BAA76854,AAP34307,AAH41628,Q5T286,Q6XZF7 Hs.500771 KIAA1010|RP11-114F7.3|TUBA protein-coding 1354178 DNMT1 DNA (cytosine-5-)-methyltransferase 1 DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. 1580863 8940105,10888872,18252747,18202356,18038118,17991895,17965595,17934516,17931718,17893234,17716861,17698033,17673620,17657744,17538945,17532557,17492476,17470536,17322882,17312023,17178861,17093909,17085482,17081983,17081533,17053888,17030625,17015478,16998846,16963560,16960727,16916647,16897079,16861352,16801630,16769694,16537562,16497664,16424002,16423997,16322686,16314526,16053511,15956212,15870198,15799776,15790807,15762053,15755728,15735013,15696166,15657147,15635413,15526354,15375672,15340041,15302935,15289832,15220328,15087453,15057824,14978102,14760703,14734556,14702039,14684836,14583449,14577574,14559786,12804601,12789259,12738984,12712445,12711675,12637155,12594811,12576480,12548018,12538344,12530095,12496760,12477932,12354094,12145218,11932749,11847125,11834837,11748221,11399088,11222358,10947852,10888886,10753866,10615135,10449766,10444590,10325416,9333948,9302295,7760804,3210246,1594447,12867029,15120635,15688037,12171929 1786 AC010077,AC011511,AC020931,AF169120,CH471106,AB209413,NM_001379,AF180682,AK122759,AY927518,BC092517,BC126227,CR594546,CR598167,CR607451,CR610482,CR623729,X63692 Q59FP7,Q569F5,NP_001370,AAD54507,AAD51619,EAW84079,EAW84080,BAD92650,AAF23609,AAH92517,AAI26228,CAA45219,A0AV63,P26358 Hs.202672 GDB:127606 CXXC9|DNMT|FLJ16293|MCMT|MGC104992 protein-coding 1606038 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. 12138111,10433969,16357870,16682412,18381459,17998942,17890317,17688412,17548962,17538945,17081983,17081533,16998846,16983096,16769694,16173030,15854647,15799776,15721400,15616584,14752048,12738984,12711675,12496760,12481029,12477932,12406579,12383256,12359337,12145218,11934864,11834837,11350943,10325416,9662389,8889548,7566098,12867029,15688037,15105426 1788 NM_022552,NM_153759,NM_175630,AB076659,AC012074,AF503864,CH471053,AB208833,AF067972,AF331856,AF480163,AK025230,BC018214,BC023612,BC032392,BC043617,BC051864,CB852889,CR618290,CR625891,W76111,NM_175629 NP_783328,NP_072046,NP_715640,NP_783329,AAY14761,EAX00727,EAX00728,BAD92070,AAD33084,AAL57039,AAN40037,AAH18214,AAH23612,AAH32392,AAH43617,AAH51864,Q59HC6,Q6PJ37,Q86TE8,Q8WVA9,Q9Y6K1,ABZ92480 Hs.515840 GDB:9862954 DNMT3A2|M.HsaIIIA protein-coding 1351585 DNMT3AP1 DNA methyltransferase 3A pseudogene 1 1304004 15203217 1304004 130802 NG_004680,AC009474,BN000391 pseudo 1606037 DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Six alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. 11735126,16357870,16682412,10555141,11102980,10433969,18455294,18437543,18407600,18367714,18336997,18268116,18221536,18097598,18029387,18023104,18006804,17998942,17991895,17890317,17705213,17688412,17538945,17532557,17369845,17353906,17318376,17303076,17277043,17149367,17081533,17017004,16951151,16951144,16920385,16773201,16543361,16501248,16501171,16481298,16463117,16328059,16211278,16194411,16012746,16004934,15962389,15854647,15721400,15580563,15528220,15490234,15467427,15375549,15217506,15148359,15120635,14702039,14559786,14555514,12925568,12879017,12867029,12738984,12601140,12477932,12359337,12239717,12208751,12202768,12145218,12110732,12015329,11934864,11932749,11780052,11350943,11076863,10647011,10588719,10325416,9662389,14752048,15688037,15105426 1789 NM_006892,NM_175848,NM_175849,NM_175850,NG_007290,AL035071,CH471077,AB208880,AF129267,AF129268,AF129269,AF156487,AF156488,AF176228,AF331857,AK001191,CR609754,DQ321787,L32168 NP_008823,NP_787044,NP_787045,NP_787046,CAB53069,CAB53070,CAB53071,EAW76350,EAW76351,EAW76352,EAW76353,EAW76354,EAW76355,EAW76356,BAD92117,AAD31432,AAD31433,AAD31434,AAD53062,AAD53063,AAF04015,AAL57040,ABC48951,Q59H79,Q9UBC3,AAI11934,AAI18503,Q2PJS8 Hs.643024 GDB:9862955 ICF|M.HsaIIIB protein-coding 1343645 DNMT3L DNA (cytosine-5-)-methyltransferase 3-like CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases. This protein is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, this protein does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and it is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternative splicing results in two transcript variants. An additional splice variant has been described but its biological validity has not been determined. 1580863 16543361,12202768,11934864,16780588,17965599,17713477,17687327,16829525,16575165,16211598,16189514,15489334,15105426,14735494,12481029,12477932,12237941,12177302,12044346,10857753,10830953 29947 NM_013369,NM_175867,AP001059,AP001060,AP001753,CH471079,AF194032,BC002560 NP_037501,NP_787063,BAA95556,EAX09445,AAF05812,AAH02560,Q9UJW3,ABM83103,ABM86298 Hs.592165 GDB:10796310 MGC1090 protein-coding 1313575 DNPEP aspartyl aminopeptidase The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. 1580863 17353931,9632644,16189514,15489334,14702039,12895663,12477932,12413488 23549 NM_012100,AC053503,AX002997,AX002999,CH471063,AF005050,AK001777,AK001977,AK021871,AK023005,BC000653,BC003040,BC004854,CR590433,CR593910,CR595452,CR599387,CR601156,CR601748,CR602255,CR603497,CR605526,CR605917,CR607064,CR608875,CR611309,CR614945,CR616703,CR620362,CR620682,CR620845,CR623295,CR624047 NP_036232,AAY15050,EAW70728,EAW70729,EAW70730,EAW70731,EAW70732,EAW70733,EAW70734,EAW70735,EAW70736,EAW70737,EAW70738,AAD01211,BAA91903,BAA92014,BAB13923,AAH00653,AAH03040,AAH04854,Q53SB6,Q9BSS9,Q9BTY6,Q9HAC6,Q9NV55,Q9ULA0,ABM82863,ABM86050 Hs.258551 GDB:9864848 ASPEP|DAP protein-coding 1312854 DNTT deoxynucleotidyltransferase, terminal This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. 1580863 2863268,17663723,16885057,15489334,15356150,15198352,12960389,12786946,12477932,11974916,11554927,11473582,10570175,9787156,9742508,9373149,8778025,8163485,8125298,6091113,6087320,3862101,3579900,3524991,3467897,3395350,2833741,16189514 1791 NM_004088,NM_001017520,AL136181,CH471066,M21195,AB046378,AK130771,AK223317,BC012920,CR597750,K01919,M20703,M22968,M26144 NP_004079,NP_001017520,CAH72984,EAW49979,AAA61137,BAB72001,BAD97037,AAH12920,AAA61136,AAA53100,AAA74588,P04053,Q14182,Q53FH1,Q5W103,ABM82391,ABM85571 Hs.534206 GDB:119100 TDT protein-coding 1322651 DNTTIP1 deoxynucleotidyltransferase, terminal, interacting protein 1 DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM] 1580863 17663723,17081983,15489334,12766061,12477932,11780052,11473582 116092 NM_052951,AL050348,CH471077,AB035676,AI538721,BC009535,BC024290,BG720866,CD678110,CR616271,CR620179 NP_443183,CAC17441,CAC36107,CAI21034,CAI21035,CAI21036,EAW75810,EAW75811,EAW75812,BAB62888,AAH09535,AAH24290,Q5QPF3,Q9H147 Hs.472852 C20orf167|Tdif1|dJ447F3.4 protein-coding 1604625 DNTTIP2 deoxynucleotidyltransferase, terminal, interacting protein 2 16762320,15047147,14702039,12786946,12477932,9373149,8125298,1507147,1504714 30836 NM_014597,AL049796,CH471097,AB046574,AK123702,AK222722,AK292379,AY336729,AY394925,BC001784,BC020634,BC047688,BC063040,BC130622,BX648593,CR609283,U15552 NP_055412,CAI21812,EAW73063,EAW73064,BAD08331,BAD96442,BAF85068,AAR02407,AAQ95169,AAH47688,AAI30623,AAA50601,Q5QJE6 Hs.85769 ERBP|FCF2|HSU15552|LPTS-RP2|MGC163494|RP4-561L24.1|TdIF2 protein-coding 731423 DOC2A double C2-like domains, alpha There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. 1580863 7826360,15489334,14702039,12477932,9804756,9736751,9195900,9115738,8554557 8448 AC093512,CH471238,AK090829,BC041769,BC055284,BC063436,NM_003586,CR592793,CR597115,CR599030,CR612455,D31897 NP_003577,EAW79942,EAW79943,EAW79944,EAW79945,EAW79946,EAW79947,EAW79948,EAW79949,EAW79950,EAW79951,EAW79952,AAH41769,AAH55284,AAH63436,BAA06695,Q14183 Hs.355281 GDB:9955175 protein-coding 732162 DOC2B double C2-like domains, beta There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. 1580863 8902635,12621583,10488064,9804756,9195900,9115738,8554557,7826360 8447 NM_003585,AC129894,CH471108,D70830 NP_003576,EAW90677,BAA11107,Q14184,AAI52721,AAI53025 Hs.648240 GDB:9955172 doc2b protein-coding 1315227 DOCK1 dedicator of cytokinesis 1 This gene product binds to the SH3 domain of CRK protein. It may regulate cell surface extension and may have a role in the cell surface extension of an engulfing cell around a dying cell during apoptosis. 1580863 11240126,11171081,11146654,9548247,8662907,8657152,11595183,14645848,9808620,12134158,15247908,9548255,8661160,17764157,17173036,16964243,16495483,16440329,16213822,16025104,15723800,15700267,14702039,14638695,12879077,12615911,12477932,12432077,11773052,11703939,11369773 1793 NM_001380,AL157711,AL355316,AL359094,AL390920,AL590372,AL607029,BX470155,BX470201,CH471066,AK091673,AL157538,AW298149,BC084559,BC146857,BU556771,BX482033,BX648342,CF455012,CX163251,D50857 NP_001371,CAI16871,CAH73231,CAI15329,CAH72560,EAW49194,AAH84559,AAI46858,BAA09454,Q14185,Q5SW10,Q5VXF6,Q5XG90 Hs.159195,Hs.645702 GDB:9836007 DOCK180|ced5 protein-coding 1348168 DOCK10 dedicator of cytokinesis 10 1580863 12168954,9734811,12432077,17081983,16189514,15815621,15710388,15489334,14702039,12477932 55619 NM_014689,AC011739,AC017095,CH471063,AB014594,AB074179,AF250396,AK000227,AK001253,BC015018,CR749492,DN991477,EG328193,EG328223,EG328495,EG328518,EG328531,EG328562 NP_055504,AAX88891,EAW70832,EAW70833,EAW70834,EAW70835,BAA31669,BAE45740,AAQ14262,BAA91022,BAA91583,AAH15018,CAH18316,Q3LIC8,Q4W4X9,Q4ZG60,Q68DA4,Q96BY6 Hs.46578 DKFZp781A1532|DRIP2|Nbla10300|ZIZ3 protein-coding 1348616 DOCK11 dedicator of cytokinesis 11 1580863 16968698,14702039,12477932,12432077 139818 NM_144658,AC007021,AL391237,AL391280,CH471161,AA490413,AI361832,AI936555,AK054649,AK056684,AK124735,AK125641,AW968823,AY692226,BC035593,BC042053,BC047713,BF513250 NP_653259,CAI41411,EAW89895,BAB71253,BAC86230,AAU04438,AAH47713,Q5JSL3,AAI56531 Hs.368203 ACG|FLJ32122|FLJ43653|ZIZ2|bB128O4.1 protein-coding 1348269 DOCK11P1 dedicator of cytokinesis 11 pseudogene 1 414888 1323174 DOCK2 dedicator of cytokinesis 2 The DOCK2 gene encodes a hematopoietic cell-specific CDM family protein that is indispensable for lymphocyte chemotaxis.[supplied by OMIM] 1580863 10559471,12176041,12134158,11518968,18056264,17015707,15592455,15489334,15144186,14737186,12829596,12477932,12432077,12393632,12191913,9039502,15723800 1794 NM_004946,AC008449,AC008648,AC008680,AC010303,AC026695,CH471062,AK128107,AK128449,AK130744,BC016996,BC035613,BC084556,BC104900,BC113457,D86964 NP_004937,EAW61491,EAW61492,BAC85420,AAH16996,AAH84556,AAI04901,AAI13458,BAA13200,Q5XG91,Q6ZNS5,Q92608 Hs.586174 GDB:9785199 FLJ46592|KIAA0209 protein-coding 1315429 DOCK3 dedicator of cytokinesis 3 1358592,1580863 15647471,14569117,12477932,12432077,12093789,11696419,10854253,9205841 1358592 1795 NM_004947,AC092037,AC096886,AC096920,AC099047,AC107313,AC126120,AC131013,AC139619,AC140120,AC144634,CH471055,AB002297,AY145303,AY254099,BC037933,BC045793,BC131746 NP_004938,EAW65134,EAW65135,EAW65136,EAW65137,BAA20759,AAN12301,AAP80572,AAI31747,Q8IZD9,AAI56340,AAI57128 Hs.476284 GDB:9785509 KIAA0299|MOCA|PBP protein-coding 1350295 DOCK4 dedicator of cytokinesis 4 This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. 1580863 16464467,17027967,16344560,16213364,14702039,12853948,12628187,12477932,12432077,9872452,17353931 9732 NM_014705,AC003077,AC003080,AC004001,AC004111,AC005047,CH236947,CH471070,AB018259,AF085922,AK055497,AK091557,AK095906,AK098050,AY233380,BC117688,BC117689,BC117694,BM126591,BM545903,CR622980,DA646980 NP_055520,AAB83946,AAS07431,EAL24377,EAW83451,EAW83452,EAW83453,EAW83454,EAW83455,EAW83456,BAA34436,BAC03696,BAC05221,AAO73565,AAI17689,AAI17690,AAI17695,Q149N2,Q149N5,Q149N6,Q75MU6,Q8N1I0 Hs.654652 FLJ34238|KIAA0716|MGC134911|MGC134912 protein-coding 1315737 DOCK5 dedicator of cytokinesis 5 16421571,15489334,14702039,12477932,12432077,10737800 80005 NM_024940,AC041005,AC091185,CH471080,AK024687,AK026663,AK123607,AK126249,AL832744,BC011877,BC015352,BC041761,BC057384,BC137175,BC137176,BF884637,BM450222,BX648352,CR627414,CR749353,CR933718 NP_079216,EAW63593,EAW63594,EAW63595,BAB14962,BAC85660,BAC86503,AAH11877,AAH41761,AAI37176,AAI37177,CAH10503,CAH18206,Q5H9P3,Q68DL4,Q6ZW46,Q9H7D0,CAI46248 Hs.195403 DKFZp451J181|DKFZp779M164|DKFZp781J211 protein-coding 1315180 DOCK6 dedicator of cytokinesis 6 1580863 15489334,14702039,12477932,12432077,10718198 57572 NM_020812,AC009000,AC011472,CH471106,AB037816,AK022412,BC008335,BC015424,BC040938,BC051330,BC095483,BC146786,BI820302,BI822534,CV571923 NP_065863,EAW84179,EAW84180,EAW84181,EAW84182,EAW84183,EAW84184,BAA92633,AAH08335,AAH51330,AAI46787,Q96HP0 Hs.591002 ZIR1 protein-coding 1352133 DOCK7 dedicator of cytokinesis 7 1580863 16982419,18426980,16710414,15963462,15489334,15324660,14702039,14676191,12477932,12432077,11329013,11214970 85440 NM_033407,AC096946,AC103923,AL138847,AL451044,AB051558,AK022097,AK055296,AK055401,AK055493,AK055905,AK091479,AK125049,AK292640,BC016392,BC018075,BC018076,BC041813,BC112387,BG190976,BG205481,BG207092,BU943181,BX485492,DQ118679,DQ118680,DQ309763,DQ341187 NP_212132,BAB21862,BAB70917,BAB70933,BAB71042,BAC86032,BAF85329,AAH16392,AAI12388,AAZ38451,AAZ38452,ABC33725,ABC68221,Q96N67,Q96NI0 Hs.538059 KIAA1771|ZIR2 protein-coding 1603953 DOCK8 dedicator of cytokinesis 8 DOCK8 is a member of the DOCK180-related (DOCK1; MIM 601403) protein family (Ruusala and Aspenstrom, 2004 [PubMed 15304341]).[supplied by OMIM] 18060736,15489334,15304341,15164053,14702039,12477932,12432077,11214971,10729223,16189514 81704 AL583913,AY117695,BC019102,BC030518,BC043265,BC045629,BC112894,BC130518,BG388288,BU532484,AL832270,NM_203447,AL158832,AL161725,CH471071,AB191037,AF194407,AK024436,AK074081,AK090429,AK093572 BAC04199,CAC29497,AAH19102,AAH45629,AAI12895,AAI30519,Q86XD0,Q8N227,Q8NF50,CAI46160,NP_982272,CAM22535,CAM22536,CAM22537,CAM13232,CAM13233,CAM13234,EAW58825,EAW58826,EAW58827,EAW58828,EAW58829,EAW58830,BAE45254,AAG42221,BAB15726,BAB84907,BAC03410 Hs.132599 FLJ00026|FLJ00152|FLJ00346|MRD2|ZIR8 protein-coding 1348065 DOCK9 dedicator of cytokinesis 9 1580863 18056264,17935486,17728666,15489334,15057823,14702039,12477932,12432077,12172552,12168954,10470851 23348 AL139084,AL161420,AL391122,CH471085,AB028981,AF085864,AF527605,AK090793,AK122987,AK126492,AK127215,AK127329,NM_015296,AK127508,BC043506,BC053620,BC146814,BX648707,CR600775,CR936820,CR749658 NP_056111,CAI39569,CAI39570,CAI39571,CAI39572,CAI39574,CAI39575,CAI39576,CAI39577,EAX08994,EAX08995,EAX08996,EAX08997,EAX08998,EAX08999,EAX09000,EAX09001,EAX09002,EAX09003,EAX09004,EAX09005,BAA83010,AAM90306,BAC86933,AAH43506,AAH53620,AAI46815,Q5JUD2,Q5JUD3,Q5JUD7,Q68CY0,Q6ZSL5,Q7Z6H4,Q9BZ29,CAH18452 Hs.654825 DKFZp686C11110|DKFZp686D2047|DKFZp686N04132|FLJ16744|FLJ44528|FLJ45282|FLJ45601|KIAA1058|KIAA1085|RP11-155N3.2|ZIZ1|zizimin1 protein-coding 1606491 DOHH deoxyhypusine hydroxylase/monooxygenase Deoxyhypusine hydroxylase (DOHH; EC 1.14.99.29) catalyzes the final step in the formation of the amino acid hypusine in eukaryotic initiation factor-5A (EIF5A; see MIM 600187).[supplied by OMIM] 16371467,17213197,16452303,16533814,15489334,15057824,12477932 83475 NM_031304,AC005551,AC005787,AC093052,CH471139,BC002817,BC009863 NP_112594,AAC33193,EAW69316,EAW69317,AAH02817,AAH09863,Q9BU89 Hs.515064 HLRC1|MGC4293 protein-coding 1319871 DOK1 docking protein 1, 62kDa (downstream of tyrosine kinase 1) Docking protein 1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. Docking protein 1 contains a putative pleckstrin homology domain at the amino terminus and ten PXXP SH3 recognition motifs. Docking protein 2 binds p120 (RasGAP) from CML cells. It has been postulated to play a role in mitogenic signaling. 1580863 10669731,10585470,10567556,10202139,9790776,9737977,9373149,9221755,9110174,9008161,8619474,8152267,8125298,10799545,9008160,17092301,16823827,16537894,16338067,16177091,16094384,15815621,15592455,15574499,15570572,15546884,15541476,15489334,15345598,15144186,14702039,14647425,12606711,12595900,12522270,12477932,12087092,11927552,11825908,11551902,11278335,11071635,11042170,10940083,10852966,10823839,10822173 1796 NM_001381,AC005033,CH471053,AF035299,AF180527,AK055944,AK127127,AK127656,AK222883,BC111055,BC114440,BC114497,CR595209,CR608499,CR615375,CR617916,U70987 NP_001372,AAX93224,EAW99612,EAW99613,EAW99614,AAB88182,AAF19167,BAD96603,AAI11056,AAI14441,AAI14498,AAC51127,Q14CB2,Q2TA81,Q53GP8,Q99704 Hs.103854 GDB:6383061 MGC117395|MGC138860|P62DOK protein-coding 1322166 DOK2 docking protein 2, 56kDa The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. 1580863 11254695,10856136,10822173,10508618,9764820,9478921,17353931,10799545,17092301,17043143,16823827,16189514,16177091,16094384,15831486,15592455,15489334,15144186,14647425,14645010,12777393,12665569,12522270,12477932,11689432,11470823 9046 NM_003974,AC087363,CH471080,AF034970,AK226110,AK292126,AL545478,BC032623,BQ067133,CB270269,CR597117,CR602622,CR611181,CR626090 NP_003965,EAW63739,AAC13265,BAF84815,AAH32623,O60496,ABM92167,ABM87807 Hs.71215 GDB:9837675 p56DOK|p56dok-2 protein-coding 1323508 DOK3 docking protein 3 16436051,15489334,14993273,14702039,12595900,12477932,11470823,10733577,10567556 79930 NM_024872,AC145098,CH471195,AK026223,AK097258,AL833678,BC004564,BC004867,CR595723,CR626301 NP_079148,EAW84982,EAW84983,EAW84984,BAB15399,BAC04986,AAH04564,AAH04867,Q7L591 Hs.153343 DOKL|FLJ22570|FLJ39939 protein-coding 1320786 DOK4 docking protein 4 17443497,16820412,15489334,14702039,12730241,12595900,12477932,11470823,10493829 55715 NM_018110,AC004382,AC009052,CH471092,AF466369,AK001350,BC001540,BC003541,CR608867,CR610258,CR619149,CR623999 NP_060580,AAC24310,EAW82932,EAW82933,EAW82934,AAL74195,BAA91642,AAH01540,AAH03541,Q8TEW6,ABM83934,ABM87253 Hs.279832 FLJ10488 protein-coding 1343098 DOK5 docking protein 5 The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. In contrast to other DOK family proteins, this protein does not interact with RASGAP. 1580863 16647839,16189514,15489334,12730241,12595900,12477932,12454490,11780052,11470823,15286081 55816 NM_018431,AL035667,AL118501,AL162292,CH471077,AF132732,AF466368,AL050069,BC008992,BI758267,BI916998,CR601525,CR606944,CR612289 NP_060901,EAW75570,EAW75571,AAF66443,AAL74194,CAB43255,AAH08992,Q9P104 Hs.656582 C20orf180|MGC16926 protein-coding 1346452 DOK6 docking protein 6 DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM] 15489334,15286081,14702039,12477932 220164 NM_152721,AC026585,AC068254,AC090231,AC119868,CH471117,AK057795,AY599248,BC008583,BC019045,BC096744 NP_689934,EAW66514,BAB71577,AAT09770,AAH08583,AAH19045,AAH96744,Q6PKX4 Hs.569915 DOK5L|HsT3226|MGC20785 protein-coding 1604958 DOK7 docking protein 7 DOK7 is a muscle protein essential for neuromuscular synaptogenesis (Okada et al., 2006 [PubMed 16794080]).[supplied by OMIM] 18165682,18161030,17439981,16917026,16794080,16344560,15489334,14702039,12477932 285489 NM_173660,AL590235,CH471131,AB220918,AK075037,AK091037,AK096456,BC043568,BC062369,BC131544,BC141852,DA205628 NP_775931,CAM21455,EAW82463,BAE96739,BAC11367,BAC03572,BAC04795,AAH43568,AAH62369,AAI31545,AAI41853,Q18PE1,Q8N1M3 Hs.122110,Hs.701584 C4orf25|Dok-7|FLJ33718|FLJ39137|FLJ90556 protein-coding 1321943 DOLK dolichol kinase Dolichyl monophosphate is an essential glycosyl carrier lipid for C- and O-mannosylation and N-glycosylation of proteins and for biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum (ER). Dolichol kinase, or TMEM15, catalyzes CTP-mediated phosphorylation of dolichol, the terminal step in de novo dolichyl monophosphate biosynthesis (Fernandez et al., 2002 [PubMed 12213788]).[supplied by OMIM] 1580863 17273964,16923818,15489334,15164053,12975309,12477932,12213788,10470851 22845 BC035556,BF056649,CR612533,CR621676,CR625855,NM_014908,AL672142,CH471090,AB029017,AY358759 AAQ89119,AAH35556,NP_055723,EAW87849,BAA83046,Q9UPQ8 Hs.531563 DK|DK1|KIAA1094|SEC59|TMEM15 transmembrane protein 15 protein-coding 1316643 DOLPP1 dolichyl pyrophosphate phosphatase 1 1580863 15489334,15164053,12477932,12198133,10369878 57171 NM_020438,AL592211,CH471090,Y17455,Y17456,AK290713,BC009493,BC022553,BC033686,BC040152,BC067858,CR597048,CR599083,AY189675 NP_065171,CAI12369,CAQ10247,EAW87867,EAW87868,EAW87869,EAW87870,EAW87871,EAW87872,CAB44348,CAB44349,BAF83402,AAO34712,AAH09493,AAH33686,AAH40152,Q86YN1,Q8IUV4,Q9Y3G1,Q9Y3G2 Hs.21701 LSFR2 protein-coding 1348619 DOM3Z dom-3 homolog Z (C. elegans) This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. 1580863 15231747,15489334,14667819,14656967,14574404,12477932,10686478,10072631,9799600,16189514 1797 NM_005510,NG_000013,NG_004658,NG_005163,AF019413,AL049547,AL645922,AL662849,AL844853,CH471081,CR753822,CR759782,AF059252,AF059253,AF059254,BC009344,BC019083,BC030235,BC050618,BC058885,BC071651,CR596930,CR602638,CR622082,CR622492 NP_005501,AAB67983,CAB89305,CAB89306,CAI17465,CAI41864,EAX03558,EAX03559,EAX03560,EAX03561,EAX03562,EAX03563,EAX03564,EAX03565,CAM26055,CAQ07122,AAC78603,AAC78604,AAC78605,AAH09344,AAH19083,AAH71651,O77932,Q5JQL9,ABM83967,ABM87283 Hs.153299 GDB:9862957 DOM3L|NG6 protein-coding 1603397 DONSON downstream neighbor of SON This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. 15489334,14759258,14702039,12477932,12036298,10950926,10773462 29980 NM_017613,AP000304,CH471079,AF232673,AF232674,AF232675,AK001274,AK074964,BC048266,CR590888,CR598801 NP_060083,EAX09812,AAF72947,AAF72948,AAF72949,BAA91594,BAC11320,AAH48266,O46786,Q8NC53,Q9NYP3 Hs.436341 GDB:11500214 B17|C21orf60|C2TA|DKFZP434M035 protein-coding 1313616 DOPEY1 dopey family member 1 16301316,16303751,14702039,12477932,10931277,10470851 23033 AL121716,AL139333,CH471051,AB029040,AK027030,AK092929,AK094766,AL050080,AL162056,NM_015018,BC036257,BC048342,BC150619,BX648667 NP_055833,CAI42425,CAI42426,CAI15284,CAM21599,EAW48672,EAW48673,EAW48674,EAW48675,EAW48676,BAA83069,BAB15631,CAB43259,CAB82395,AAH48342,AAI50620,Q5JWR5,Q5TA12 Hs.520246,Hs.708998 GDB:9954706 FLJ35610|KIAA1117|dJ202D23.2 protein-coding 1314515 DOPEY2 dopey family member 2 10830953,10231032,9503011,10931277,16303751,16276086,12767918,12477932,12168954,16301316,10950924 9980 NM_005128,AP000689,AP000690,AP000691,AP000692,AP001725,CH471079,AB023150,AJ001857,AJ237839,AK025095,AK026478,BC012791,CR613258,W15495 NP_005119,BAA95548,EAX09743,EAX09744,BAA76777,CAB41415,AAH12791,Q9Y3R5 Hs.204575 GDB:9958546 C21orf5 protein-coding 1315376 DOT1L DOT1-like, histone H3 methyltransferase (S. cerevisiae) 1580863,1359080 18285465,17855633,17094487,15851025,14702039,12693554,12628190,12477932,12123582,11347906 1359080 84444 NM_032482,AC004490,AC005257,AC005263,AC093456,CH471139,AB058717,AF509504,AK074120,AK095280,AL080221,BC021037,BC032803 NP_115871,AAC08316,EAW69408,EAW69409,EAW69410,EAW69411,BAB47443,AAM88322,BAB84946,AAH32803,Q8TEK3,AAI56104 Hs.591379 DKFZp586P1823|DOT1|KIAA1814|KMT4 protein-coding 1349923 DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. 1580863 8179616,12872255,16344560,15489334,14702039,12855228,12618564,12592703,12477932,12417423,11805072,10024536,9451016,9373149,8889548,8244387,8125298,3038274 1798 NM_203316,NM_001382,AF070443,AP003391,CH471065,G29019,AA833740,AK095122,AK095718,AK128572,AK225994,BC000325,BC047771,BM982950,BT006802,CR603487,DA023424,Z82022 NP_976061,NP_001373,AAG43168,EAW67452,EAW67453,EAW67454,EAW67455,AAH00325,AAH47771,AAP35448,CAB04787,Q9H3H5 Hs.524081 GDB:251678 ALG7|CDG-Ij|D11S366|DGPT|DPAGT|DPAGT2|G1PT|GPT|UAGT|UGAT protein-coding 1346376 DPCR1 diffuse panbronchiolitis critical region 1 16702430,12477932,12185533,10677310 135656 NM_080870,AB110931,AB110932,AB202102,AL662854,AL669830,AL773541,CH471081,AB064272,AL833738,BC069477,BC101661,BC101663 Q3MIW9,NP_543146,BAD13697,BAD13698,BAE78623,CAI17438,CAI18007,CAI18455,EAX03351,BAB82383,CAH56248,AAH69477,AAI01662,AAI01664,Q5ST29 Hs.631993 MGC126710|MGC126712|PBLT|bCX105N19.6 protein-coding 1350537 DPEP1 dipeptidase 1 (renal) DPEP1 (EC 3.4.13.11) is a kidney membrane enzyme that hydrolyzes a variety of dipeptides and is implicated in renal metabolism of glutathione and its conjugates, e.g., leukotriene D4 (Kozak and Tate, 1982 [PubMed 6122685]). DPEP1 is responsible for hydrolysis of the beta-lactam ring of antibiotics, such as penem and carbapenem (Campbell et al., 1984 [PubMed 6334084]). Earlier, beta-lactamase enzymes were thought to occur only in bacteria, where their probable function was in protecting the organisms against the action of beta-lactam antibiotics. These antibiotics exhibit selective toxicity against bacteria but virtual inertness against many eukaryotic cells (Adachi et al., 1990 [PubMed 2303490]).[supplied by OMIM] 1580863 2303490,16189514,15489334,15340161,15145522,12477932,12144777,10425712,8507661,8439558,8097406,7764673,7682195,6334084,6122685,2768222,2168407,2137335 1800 NM_004413,AC010538,CH471184,D13137,S70330,BC017023,BT006664,CR457404,CR620135,D13138,J05257 NP_004404,EAW66719,EAW66720,BAA02430,AAC60630,AAH17023,AAP35310,CAG33685,BAA02431,AAB59410,P16444,Q6I9V1,ABM81640 Hs.109 GDB:128059 MBD1|MDP|RDP protein-coding 1313962 DPEP2 dipeptidase 2 DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM] 1580863 16335952,15489334,14702039,12975309,12738806,12477932 64174 NM_022355,AC040162,CH471092,AJ295149,AK092884,AY358454,BC024021,CR625664 NP_071750,EAW83200,EAW83201,EAW83202,EAW83203,EAW83204,CAC14667,AAQ88819,AAH24021,Q9H4A9 Hs.372633 MBD2 protein-coding 1313538 DPEP3 dipeptidase 3 DPEP3 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM] 1580863 15489334,14702039,12975309,12738806,12477932 64180 NM_022357,AC040162,CH471092,AJ291679,AK057401,AY358390,BC037243,BC057789 NP_071752,EAW83197,EAW83198,EAW83199,CAC15385,AAQ88756,AAH57789,Q9H4B8 Hs.302028 MBD3 protein-coding 1606329 DPF1 D4, zinc and double PHD fingers family 1 8812431,14702039,12477932 8193 NM_004647,AC011479,CH471126,AK094632,AK127198,BC021191,BC125152,CR614366,U43843,BC125153,CR604718 NP_004638,EAW56760,EAW56761,EAW56762,EAW56763,AAH21191,AAC50685,Q08AJ0,Q08AJ1,Q6PJ73,Q92782,AAI25153,AAI25154 Hs.631576 MGC150428|MGC150429|NEUD4|neuro-d4 protein-coding 1323292 DPF2 D4, zinc and double PHD fingers family 2 The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. 1580863 7961935,17081983,15489334,15302935,14743216,14702039,12477932,11845289,9680388,9253601,8812431 5977 NM_006268,AP000944,AY220877,CH471076,U43920,AF001433,AK096796,AK291944,BC014889,BT006718,BX641135,CR614117,CR620712,CR623641,U94585 NP_006259,AAO26041,EAW74375,EAW74376,EAW74377,AAC50687,AAB81203,BAF84633,AAH14889,AAP35364,AAB58307,Q92785,ABM83323,ABM86538 Hs.13495 MGC10180|REQ|UBID4|ubi-d4 protein-coding 1319176 DPF3 D4, zinc and double PHD fingers, family 3 1580863 8812431,16344560,16109180,14702039,12477932,11845289,11329013 8110 NM_012074,AC004828,AC006360,AC007160,AL392024,CH471061,U43919,AK024141,AK124615,AK124946,AK126074,AK126933,AY803021,BC026305,BG218220,DA407279,DB140241,BC060801 NP_036206,EAW81076,EAW81077,EAW81078,EAW81079,EAW81080,AAC50686,BAB14838,BAC86002,BAC86753,AAX20019,AAH60801,Q32UJ0,Q6P9E6,Q6ZT41,Q6ZV61,Q92784,ABZ92269 Hs.162868 CERD4|FLJ14079 protein-coding 1352320 DPH1 DPH1 homolog (S. cerevisiae) Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM] 8603384,15485916,14702039,12621583,12477932,11527402,11013075,10519411,8616839,16189514 1801 NM_001383,AC090617,AC099684,CH471108,AF321876,AK090530,AK098268,AL580693,BC003099,BC013205,BC096086,BC096087,BC096088,BC096089,BP417755,BT019878,CR590443,CR600107,CR614425,CR620769,CR622243,S81752,U34880 NP_001374,EAW90567,EAW90569,AAK13428,AAH03099,AAH96088,AAV38681,AAB36297,AAD10198,Q9BZG8,ABM82784,ABM85973 Hs.513856 GDB:631901 DPH2L|DPH2L1|FLJ33211|OVCA1 dph2-like 1 (s. cerevisiae) protein-coding 1312184 DPH2 DPH2 homolog (S. cerevisiae) This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Two transcript variants encoding different isoforms have been found for this gene. 15485916,14702039,12477932,9782084,8406038,7559470 1802 NM_001384,NM_001039589,AL357079,CH471059,AA252672,AF053003,AK091303,BC001389,BC003181,BC016956,BM794530,BQ215136,BT007431,BX362196,CR593501,CR599890,CR600358 NP_001375,NP_001034678,CAI16800,EAX07070,EAX07071,AAC18086,AAH01389,AAH03181,AAH16956,AAP36099,Q9BQC3 Hs.632398 GDB:9835738 DPH2L2 dph2-like 2 (s. cerevisiae) protein-coding 1346924 DPH3 DPH3, KTI11 homolog (S. cerevisiae) 1580863 14980502,18214955,16344560,15489334,15485916,14702039,14527407,12477932 285381 NM_206831,NM_001047434,AC090953,CH471055,AK022970,AK023203,AK092040,BC010181,DA447430 NP_001040899,NP_996662,EAW64268,EAW64269,AAH10181,Q96FX2 Hs.388087 DELGIP|DELGIP1|DESR1|DPH3A|KTI11|MGC20197|ZCSL2 protein-coding 1343930 DPH3B DPH3B, KTI11 homolog B (S. cerevisiae) 1580863 11780052 140827 AL035669 CAC12751,Q9H4G8 C20orf143|ZCSL1|dJ885L7.5 protein-coding 1350551 DPH4 DPH4, JJJ3 homolog (S. cerevisiae) Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM] 737633 15489334,15485916,14702039,12477932 737633 120526 NM_181706,AC108456,AL137804,CH471064,AK123087,AK289665,AL050199,AL833128,BC036571,BC044931,BC063804,CD685768 NP_859057,CAM28214,EAW68241,EAW68242,EAW68243,EAW68244,EAW68245,EAW68246,EAW68247,BAF82354,AAH36571,AAH63804,Q4G0U3,Q6P3W2 Hs.187269,Hs.705610 JJJ3|ZCSL3 zinc finger, csl domain containing 3 protein-coding 1602122 DPH5 DPH5 homolog (S. cerevisiae) This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. 16344560,15489334,15485916,12477932,11042152,10931946,10810093,10737800,9373149,8889548,8125298 51611 NM_001077394,NM_015958,NM_001077395,AC093157,CH471097,AF132964,AF157319,AF161492,AF248965,AK125485,AK225469,AK225707,AK225951,AK289351,BC009620,BC034669,BC053857,BI907367,BM808505,CK002046,CR593052,CR594915,CR597128,CR610508,CR615163,CR616993,CR617565,DA133565 NP_001070862,NP_057042,NP_001070863,EAW72932,EAW72933,EAW72934,EAW72935,EAW72936,EAW72937,EAW72938,EAW72939,Q9H2P9,EAW72940,EAW72941,AAD27739,AAF67485,AAF29107,AAG44563,BAF82040,AAH09620,AAH53857,Q96DC6 Hs.440776 AD-018|CGI-30|HSPC143|MGC61450|NPD015 protein-coding 1320840 DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. 1580863 10642602,10642597,9223280,17353931,9535917,10835346,16280320,9724629,17081983,15669674,15489334,12477932,11780052 8813 CH471077,D86202,AF007875,AK289569,BC007073,BC008427,BC008466,BC016322,CR456926,CR598461,CR611307,CR616106,D86198,NM_003859,AL034553 CAI23324,CAI23326,CAI23327,EAW75607,EAW75608,EAW75609,BAA25647,AAC98797,BAF82258,AAH07073,AAH08466,AAH16322,CAG33207,BAA25646,O60762,Q6IB78,Q96HK0,NP_003850,CAB53749 Hs.654951 GDB:9957300 CDGIE|MPDS protein-coding 736541 DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. 10835346,11102867,16280320,12477932,11591653,10944123,9724629,8617505 8818 NM_003863,AL157935,AB013361,AF061729,BC015233,BC015374,BC048256,BC107863,CR542134,CR590576,CR625100 NP_003854,CAI12615,CAI12616,BAA33974,AAG43140,AAH15233,AAH15374,AAI07864,CAG46931,O94777,Q5XKK9,Q6FGH3,Q96BP5 Hs.108973 GDB:9957314 MGC111193|MGC21559 dolichol-phosphate mannosyltransferase 2 protein-coding 1349412 DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. 1580863 10835346,16280320,16710414,12477932,11420690,11226175 54344 NM_153741,NM_018973,AL691442,CH471121,AB028128,AF312922,AF312923,BC032223,BC065233,BC104202,BC104203,BC104481 NP_714963,NP_061846,CAI15325,CAI15326,EAW53125,EAW53126,BAA96291,AAK28487,AAK28486,AAH32223,AAH65233,AAI04203,AAI04204,AAI04482,Q3SX58,Q5SR62,Q6P184,Q86TM7,Q9P2X0 Hs.110477 GDB:10796489 MGC125904|MGC125905|MGC34275 protein-coding 1315036 DPP10 dipeptidyl-peptidase 10 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1331525,1580863 12662155,17702965,17475505,16899223,16290253,15911355,15829243,15671030,15489334,15454437,14702039,14566338,12675227,12477932,10819331 1331525 57628 DQ857323,NM_020868,NM_001004360,AC010885,AC012071,AC016721,AC017040,AC066593,AC067947,AC068542,AC093610,AC105422,AC116620,AC118276,AC118664,CH471103,AB040925,AK025075,AK055256,AK289967,AW771124,AY172661,AY387785,BC030832,BC038514,BI597037,CR617461,DQ857321,DQ857322,N47251 NP_065919,NP_001004360,AAY14930,AAY15025,AAY15032,AAY14685,AAY24120,EAW95186,EAW95187,EAW95188,BAA96016,BAF82656,AAO17263,AAQ91190,AAH30832,ABI16085,ABI16086,ABI16087,Q0GLB7,Q0GLB8,Q0GLB9,Q53QT3,Q53S86,Q53SL8,Q53SS4,Q53TB1,Q8N608,ABM83319,ABM86534 Hs.591555 DPL2|DPPY|DPRP3 dipeptidylpeptidase 10 protein-coding 736150 DPP3 dipeptidyl-peptidase 3 This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternate transcriptional splice variants have been characterized. 1580863 10387075,16097034,15489334,14759258,6368131,3791505,3348886,3233187,2906822,2858361,2044841,618680,14702039,14687922,14529681,12477932,11209758,11181995,10873616,10773679,9711218,9640230,9425109,9373149,8125298,7044004,7041700 10072 BC014038,BC024271,CD366941,CR620853,NM_130443,NM_005700,AP002748,CH471076,AB017970,AJ271216,AK021449,AK025984,AK222566,AK222847,AL137670,AL833475,BC001446,BC007221 AAH14038,AAH24271,Q53GT4,Q53HL4,Q5JPB8,Q9NY33,ABM83111,ABM86305,AAH07221,NP_569710,NP_005691,EAW74544,BAA75785,CAB72433,BAB13828,BAD96286,BAD96567,CAI46122,AAH01446 Hs.502914 GDB:9954966 DPPIII|FLJ11387|FLJ22331 dipeptidylpeptidase iii protein-coding 737491 DPP4 dipeptidyl-peptidase 4 (CD26, adenosine deaminase complexing protein 2) The protein encoded by this gene is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic membrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. 1580863 17904681,17846797,17786309,17610364,17549790,17525828,17492130,17287217,17270095,17244786,17071493,16829852,16781669,16778789,16704418,16700525,16700520,16700508,16621928,16611738,16335952,15911629,15866709,15864535,15819895,15797249,15695814,15681827,15540901,15490304,15489334,15448155,15375776,15353589,15323360,15292258,15215186,15213224,15175333,15146553,15027119,15016824,15002062,14718659,14691230,14684825,14630704,14525771,12906826,12832764,12820316,12790770,12767062,12752434,12727530,12690074,12675254,12675253,12675248,12675247,12675246,12675245,12675243,12675238,12675233,12675232,12675231,12675229,12675220,12675218,12646248,12634639,12595736,12579300,12529175,12483204,12477932,12471135,12437097,12239451,12213886,12176563,12175726,12112826,12095981,12047913,12031601,12023964,14684150,7594462,11772392,16670267,18189200,18007554,17944883,1975616,1680916,1677636,1362202,1352704,1352530,1347043,7585218,11831694,7903479,9330699,8806567,10899322,9330696,9103436,9263011,9185130,11901152,11882590,11773049,11739489,11739156,11696365,11549856,11390394,11278278,10961862,10880264,9933589,9710254,9685737,9671214,9645485,9537773,9516414,9374514,9330689,9252108,8925885,8852605,8763423,8635502,8101391,8096237,8095514,8094732,7927537,7912830,7911242,7833626,7539755,7522442,7487939,1977364 1803 NM_001935,AC008063,CH471058,CQ772397,S79876,U13710,U13711,U13712,U13713,U13714,U13715,U13716,U13717,U13718,U13719,U13720,U13721,U13722,U13723,U13724,U13725,U13726,U13727,U13728,U13729,U13730,U13731,U13732,U13733,U13734,U13735,AY429531,AY429532,AY429533,BC013329,BC065265,CR612763,CR618494,M74777,M80536,X60708 NP_001926,AAX93179,EAX11361,EAX11362,CAF33874,AAB35614,AAB60646,AAH13329,AAH65265,AAA51943,AAA52308,CAA43118,P27487,Q53TN1 Hs.368912 GDB:125239 ADABP|ADCP2|CD26|DPPIV|TP103 dipeptidylpeptidase 4 protein-coding 68590 DPP6 dipeptidyl-peptidase 6 This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 68240,1580863 18084291,18057069,16764835,16344560,16123112,15911355,15890703,15671030,15476821,12853948,12575952,12477932,11173531,9847074,8889548,8103397,7566098,1729689,15146195 68240 1804 NM_001039350,NM_130797,NM_001936,AC005588,AC006019,AC007129,AC024239,AC024730,AC073336,AC099341,AC104594,CH236962,CH471149,AI458476,AK126619,AK131502,BC035912,BC150304,BM931444,BX647966,CR619673,DA071922,M96859,M96860,R86717,T28117 NP_001034439,NP_570629,NP_001927,AAS07504,AAS07508,AAS07493,AAS07518,EAX04521,EAX04522,BAC86615,BAD18646,AAH35912,AAI50305,AAA35760,AAA35761,P42658,Q6ZMS9,Q6ZTH2,Q75KN3,Q75MF0,Q75MI7,Q75MI8,Q8IYG9 Hs.490684,Hs.669076,Hs.703229 GDB:136980 DPPX|MGC46605 dipeptidylpeptidase 6 protein-coding 733882 DPP7 dipeptidyl-peptidase 7 The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. 70613,1580863 15231747,15489334,12529175,12477932,12005022,11173530,11139392,11067927,10567372,10477574,8096464,2727382,2207678,1515698 70613 29952 NM_013379,AL929554,CH471090,AB209787,AF154502,AK292112,AL533195,BC011907,BC016961,BF342300,BX400716 ABM85563,NP_037511,CAH72872,EAW88349,BAD93024,AAF12747,BAF84801,AAH11907,AAH16961,Q59EM4,Q5VSF1,Q9UHL4,ABM82386 Hs.37916 GDB:11508697 DPP2|DPPII|QPP dipeptidylpeptidase 7 protein-coding 1322072 DPP8 dipeptidyl-peptidase 8 This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. 11012666,18275857,17040910,16704418,16700509,16344560,15866709,15664838,15489334,15039077,14729942,14702039,12662155,12534281,12477932 54878 NM_017743,NM_130434,NM_197961,NM_197960,AC011846,AC105129,CH471082,AF176779,AF221634,AF221635,AF221636,AF221637,AK000290,AK027826,AK291057,AY172659,AY354202,BC030688,BC040203,BI458620,BI462092,DA297112,CR609512 NP_060213,NP_569118,NP_932065,NP_932064,EAW77726,EAW77727,EAW77728,EAW77729,EAW77730,EAW77731,EAW77732,EAW77733,EAW77734,AAQ13657,AAG29766,AAG29767,AAG29768,AAG29769,BAA91059,BAB55395,BAF83746,AAO17261,AAQ63887,AAH30688,Q6V1X1,ABM82659,ABM85836 Hs.591106 GDB:10013996 DP8|DPRP1|FLJ14920|FLJ20283|MGC26191|MSTP141 dipeptidylpeptidase 8 protein-coding 1350502 DPP9 dipeptidyl-peptidase 9 This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. 16704418,16700509,16475979,15866709,15489334,15245913,14702039,12662155,12534281,12477932,12459266 91039 NM_139159,AC005594,AC005783,CH471139,AF452102,AF542510,AK054656,AK075030,AK122645,AK122654,AK131100,AK131499,AL834376,AY172660,AY374518,BC000970,BC017008,BC037948,BF203783,CB960096,CR603620,CR604042,CR612208,CR627380,DQ417928 NP_631898,AAC33801,AAC62840,EAW69199,EAW69200,EAW69201,AAL47179,AAO73880,BAB70784,BAC11362,BAC85150,BAD18643,CAD39039,AAO17262,AAQ83119,AAH00970,AAH37948,CAH10477,ABD83624,O75273,O75868,Q1ZZB8,Q86TI2,ABM83251,ABM86453 Hs.515081 GDB:11505966 DKFZp762F117|DPRP2|FLJ16073 dipeptidylpeptidase 9 protein-coding 1346119 DPPA1 developmental pluripotency associated 1 359784 AF490345 1348790 DPPA2 developmental pluripotency associated 2 16189514,15583978,15489334,12477932 151871 NM_138815,AC076971,CH471052,AY283672,BC018070 NP_620170,EAW79709,EAW79710,AAP37285,AAH18070,Q7Z7J5 Hs.351113 PESCRG1 protein-coding 1352490 DPPA3 developmental pluripotency associated 3 This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. 16291741,15489334,15018652,14990856,14684992,14654002,11900980,17143267 359787 NM_199286,AC006517,CH471116,AY317075 NP_954980,EAW88657,EAW88658,AAQ84110,Q6W0C5 Hs.131358 STELLA protein-coding 1343152 DPPA4 developmental pluripotency associated 4 16189514,15489334,14702039,12620990,12477932,8889549,16169070 55211 NM_018189,AC076971,CH471052,AA223751,AA224162,AK001575,AK022698,AK022821,AK290992,BC032846 NP_060659,EAW79708,BAA91765,BAB14188,BAB14259,BAF83681,AAH32846,Q7L190,Q9H9H0,ABM82151,ABM85336 Hs.317659 2410091M23Rik|FLJ10713 protein-coding 1344123 DPPA5 developmental pluripotency associated 5 17913455,15790765 340168 NM_001025290,AC019205,CH471051,AA872428,BX092581 NP_001020461,EAW48774,EAW48775,A6NC42 Hs.125331 Esg1 protein-coding 1604883 DPRX divergent-paired related homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. 17005330 503834 NM_001012728,AC011487 NP_001012746,A6NFQ7 Hs.579941 protein-coding 1605459 DPRXP1 divergent-paired related homeobox pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503641 NG_004847,AC018867 pseudo 1605458 DPRXP2 divergent-paired related homeobox pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503643 NG_004848,AL133507 pseudo 1605457 DPRXP3 divergent-paired related homeobox pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503644 NG_004849,AL121594 pseudo 1602608 DPRXP4 divergent-paired related homeobox pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503645 NR_002221,AC138207 pseudo 1605456 DPRXP5 divergent-paired related homeobox pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503646 NG_004850,AP000703,AP000704,AP001727 pseudo 1605455 DPRXP6 divergent-paired related homeobox pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503647 NG_004851,AC092474 pseudo 1605454 DPRXP7 divergent-paired related homeobox pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. 503648 NG_004852,AL031176 pseudo 1316210 DPT dermatopontin Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. 1580863 11810028,8104875,17547532,16710414,15489334,12477932,10233760,9895299,8082810 1805 NM_001937,AL049798,CH471067,AF086330,AL049455,BC033736,CR591165,CR592434,CR596260,CR614953,CR622672,Z22865 NP_001928,CAB46693,EAW90830,AAH33736,CAA80487,Q07507,ABM82981,ABM86175 Hs.80552 GDB:206707 TRAMP protein-coding 1603693 DPY19L1 dpy-19-like 1 (C. elegans) 12477932,11181995,10048485 23333 NM_015283,AC004711,AC004712,AC005271,AC005401,AC010085,CH471073,AB020684,AJ011911,BC029591,BC050318,BC064476,DQ287932 NP_056098,EAW94038,EAW94039,BAA74900,AAH29591,ABB89208,Q2PZI1 Hs.408623 KIAA0877 protein-coding 1602199 DPY19L1P1 dpy-19-like 1 pseudogene 1 (C. elegans) 89231 AK026768 Hs.633705 pseudo 1606928 DPY19L2 dpy-19-like 2 (C. elegans) 16526957,14702039,12975309,12477932 283417 NM_173812,AC027667,CH471054,AK057511,AL833344,AY358792,BC031225,BC068442,BC125215,BC125216,DB514316 NP_776173,EAW97117,EAW97118,BAB71515,AAQ89152,AAH31225,AAH68442,AAI25216,AAI25217,Q6NUT2 Hs.533644 FLJ32949|FLJ36166 protein-coding 1602789 DPY19L2P1 dpy-19-like 2 pseudogene 1 (C. elegans) 12477932 554236 NR_002833,AC004800,AC006379,BC013598,BC066987,BX647611,BX648666 AAH66987,Q6NXN4 Hs.594815 pseudo 1604946 DPY19L2P2 dpy-19-like 2 pseudogene 2 (C. elegans) 14702039,12477932 349152 NR_003561,AC004668,AC007683,CH471070,AK093485,AK097711,AK131353,AL049437,AL834175,BC023575,BC045595,BC068601,BC094802,BC150309,BX648212 EAW83317,EAW83323,BAC04183,BAC05147,BAD18507,CAD38872,AAH68601 Hs.148768 DKFZp434E092|DKFZp586E1120|DKFZp779M0267|FLJ36166 pseudo 1605477 DPY19L2P3 dpy-19-like 2 pseudogene 3 (C. elegans) 442524 NG_005216,AC007276,DQ287933 Hs.652669 pseudo 1625100 DPY19L2P4 dpy-19-like 2 pseudogene 4 (C. elegans) 16526957,12477932 442523 NR_003551,AC004969,CH236949,AK098759,BC031277,BC047471,BX537815,DQ287934 BAC05405,AAH31277,AAH47471,Q4G128,Q86X12,Q8N794 Hs.406964 DKFZp686L2199|FLJ25893|MGC39769|MGC48509 pseudo 1604230 DPY19L3 dpy-19-like 3 (C. elegans) 12477932 147991 NM_207325,AC005382,AC005621,AC007773,AF533710,AF533711,AK024775,AK125846,AK126264,AK126757,AK129497,AL833713,BC029162,BC131725,CR749459 NP_997208,AAQ09023,AAQ09024,BAC86508,BAC86676,BAC85166,AAH29162,AAI31726,CAH18293,Q6ZPD9,Q7Z4H5,Q7Z4H6,Q8N6Q4 Hs.194392 DKFZp686J17135|MGC35440 protein-coding 1606660 DPY19L4 dpy-19-like 4 (C. elegans) 17567985,16381901,15489336,12477932,11230166,11076863 286148 NM_181787,AP003692,AP005660,CH471060,AK123618,AK123682,AL049962,AL832859,BC110870,BC126193,BC130576,BP873374,BX538048,BX538174 NP_861452,EAW91722,EAW91723,EAW91724,EAW91725,BAC85664,BAC85675,AAI10871,AAI26194,AAI30577,CAD97987,CAD98049,Q7Z388,CAL38586 Hs.567828 MGC131885 protein-coding 1603291 DPY30 dpy-30 homolog (C. elegans) DPY30 is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM] 16189514,17500065,16730941,16260194,15489334,12477932 84661 NM_032574,AL121655,CH471053,AF226998,BC015970,BI752326,CD704815 NP_115963,EAX00463,EAX00464,EAX00465,EAX00466,AAK00640,AAH15970,Q9C005 Hs.531788 HDPY-30|Saf19 protein-coding 731730 DPYD dihydropyrimidine dehydrogenase The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. 1580863,1624989,1599789,1300048 8083224,1512248,18452418,18443386,18347391,18299612,18225548,18004243,17905396,17876700,17848752,17828463,17699798,17612628,17582310,17582309,17445431,17417073,17397246,17377791,17375478,17335544,17203168,17165084,17121937,17046731,17000685,16969493,16820886,16806531,16786143,16771603,16361556,16344560,16328315,16132996,16021908,15999119,15993511,15939134,15709212,15316940,15254700,15132136,15102667,15069545,15025795,15017333,14702180,14654904,14562021,14519634,12851836,12844478,12822071,12576451,12477932,12360106,12209976,12047484,12025228,11992400,11988088,11895907,11862480,11555601,11267945,11072080,10923099,10606257,9464498,9439663,9266349,9170156,9135003,8892022,8221682,7713523,3335642,2528450,2319593,1901022,1544906 1624989,1599789 1806 NM_000110,AC091608,AC093576,AC099787,AC114878,AC138135,AL356457,AL645494,BX908805,CH471097,U57655,X95670,AB003063,AI124948,AK291217,BC008379,BC064027,BC108742,BC131777,BC131778,BT006740,CR590314,CR607436,DA721123,U09178,U20938 Q12882,Q5VXW9,Q96HL6,Q32NB0,NP_000101,EAW73002,EAW73003,AAB07049,CAA64973,BAA89789,BAF83906,AAH08379,AAH64027,AAI08743,AAI31778,AAI31779,AAP35386,AAA57474,AAB51366 Hs.335034 GDB:364102 DHP|DHPDHASE|DPD|MGC132008|MGC70799 protein-coding 68541 DPYS dihydropyrimidinase Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. 1599001,1624989,1300048,1580863 10956643,8973361,3931905,16189514,9718352,18216719,18075467,17383919,15489334,12477932 1599001,1624989 1807 NM_001385,AB004678,AP002847,AP003471,CH471060,CQ840196,BC034395,D78011 NP_001376,BAA33067,EAW91893,CAH05690,AAH34395,BAA11189,Q14117 Hs.443161 GDB:5885803 DHP|DHPase protein-coding 737388 DPYSL2 dihydropyrimidinase-like 2 1580863 8973361,16260607,18218617,18203259,17683481,17229153,16964243,16611631,16380905,16321170,15858820,15672539,15489334,15345747,15207709,14702039,12951196,12942088,12482610,12477932,12134159,11771764,11741937,11121447,10956643,10818093,10770920,10757975,10574455,9373149,8640231,8125298,7637782,1602151 1808 NM_001386,AB020777,AC015564,AC015743,CH471080,AB209195,AK092377,AK223557,AK291287,BC056408,BC067109,BX647115,CR594253,D78013,U17279,X91250 NP_001377,BAA86991,EAW63573,EAW63574,BAD92432,BAC03872,BAD97277,BAF83976,AAH56408,AAH67109,BAA11191,AAA93202,Q16555,Q53ET2,Q59GB4,Q8NAN9 Hs.173381 GDB:5496401 CRMP2|DHPRP2|DRP-2|DRP2 protein-coding 735265 DPYSL3 dihydropyrimidinase-like 3 1580863 8973361,12444086,11771764,10956643,10748015,10664068,1602151,12477932,9115293,17081983,16611631,15933812,15345747,12745088 1809 NM_001387,AC011373,AF246692,CH471062,AI570709,BC039006,BC077077,CA424493,CR602667,CR611483,D78014,Y07818 NP_001378,AAF76324,EAW61826,AAH39006,AAH77077,BAA11192,CAA69153,Q14195,Q6DEN2,Q8IXW6,Q9NR93 Hs.519659 GDB:5885804 CRMP-4|CRMP4|DRP-3|DRP3|ULIP protein-coding 737533 DPYSL4 dihydropyrimidinase-like 4 1580863 9652388,15164054,12477932,11771764,10956643,10851247,10594648,8973361 10570 NM_006426,AL512622,CH471066,AB006713,BC029280,BC136329,BC136330,BC142974,Y10976 NP_006417,CAI12185,CAI12186,EAW49131,EAW49132,EAW49133,EAW49134,EAW49135,EAW49136,EAW49137,EAW49138,BAA21886,AAI36330,AAI36331,CAA71872,O14531 Hs.100058 GDB:9957670 CRMP3|DRP-4|ULIP4 protein-coding 733917 DPYSL5 dihydropyrimidinase-like 5 Members of the CRMP family, such as DPYSL5, are believed to play a role in growth cone guidance during neural development.[supplied by OMIM] 632609,632608,1580863 15489334,14702039,12838519,12477932,12093729,11549731,11220734,11034345,10956643,16189514,10851247,18347453 632609,632608 56896 NM_020134,AC011740,AC013472,CH471053,AF157634,AF264015,AJ251275,AK022795,AK127314,AL713706,AW139156,BC002874,BC128218,BT006871 NP_064519,AAX93268,AAY14652,EAX00667,EAX00668,AAF80348,AAK16830,CAB95124,CAD28503,AAH02874,AAP35517,Q53SW3,Q53T73,Q9BPU6,ABM81681 Hs.299315 CRAM|CRMP-5|CRMP5|FLJ45383|Ulip6 protein-coding 1312375 DQX1 DEAQ box polypeptide 1 (RNA-dependent ATPase) 16344560,14702039,12477932 165545 NM_133637,AC005041,CH471053,AA515987,AK074337,AK092420,BC033238,BC075018,BM987933,DA852016 NP_598376,EAW99626,EAW99627,EAW99628,BAB85056,BAC03884,AAH75018,Q8TE96 Hs.191705 FLJ23757 protein-coding 1313088 DR1 down-regulator of transcription 1, TBP-binding (negative cofactor 2) This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. 1580863 8670811,1339312,17584739,16710414,16189514,15574413,15489334,14702039,12477932,11461703,9373149,9040789,8972183,8884286,8836190,8764062,8608938,8125298,12927788,15893730 1810 AL137159,CH471097,AK057541,AK223442,AL833729,BC002809,BC035507,BC068553,BT006972,CR590361,CR609983,M97388,NM_001938 NP_001929,CAC17578,EAW73072,EAW73073,EAW73074,EAW73075,EAW73076,BAD97162,CAH56250,AAH02809,AAH35507,AAH68553,AAP35618,AAA58442,Q01658,Q53F47,Q658N3 Hs.348418 GDB:1386726 NC2|NC2-BETA protein-coding 1605066 DRAM damage-regulated autophagy modulator This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. 17397945,17102582,16839881,16839873,16344560,14702039,12477932 55332 NM_018370,AC063950,AC084398,CH471054,AI079438,AK002121,AK094923,BC013773,BC018435,DA721965 NP_060840,EAW97685,EAW97686,BAA92091,AAH13773,AAH18435,Q8N682 Hs.525634 FLJ11259 protein-coding 1318268 DRAP1 DR1-associated protein 1 (negative cofactor 2 alpha) Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. 8608938,17994103,17548813,16713569,16484223,16189514,16169070,15509807,15489334,12927788,12477932,12477712,12471260,11461703,10852970,9418848,8972183,8670811,15893730 10589 NM_006442,AP006287,CH471076,AI685498,BC010025,BG719065,CR623158,X96506 NP_006433,EAW74472,AAH10025,CAA65358,Q14919,ABZ92465 Hs.356742,Hs.381222 GDB:9864849 NC2-alpha protein-coding 70828 DRD1 dopamine receptor D1 This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. 1580869,1625010,1580863,1600981,1300303,1300302 11500503,18451638,18413491,18382271,18366720,18341651,18270970,18237729,18205172,18197272,18172057,18092181,18030347,18023044,17679637,17466946,17455212,17395585,17394052,17310237,17092969,17066478,16876683,16846218,16816977,16594948,16424823,16397404,16391193,16344560,16338988,15927089,15785860,15722953,15717291,15704231,15621009,15607627,15569306,15564897,15549138,15489334,15272078,15247297,15192107,15159403,14993367,14569274,12967601,12966314,12781734,12738794,12646556,12509874,12509438,12497608,12477932,12408866,12181426,12164861,12150791,12047334,11920160,11918350,11893085,11783439,11773080,11723200,11583808,11331877,11140838,10890919,10698743,10692483,10618483,9920093,9457173,8810292,8636408,8471124,2168520,1977312,1557411,1975640,1831904,8264547,2144334,17194762,10051231 1580869,1625010,1600981,1300303,1300302 1812 AB065677,AC091393,CH471062,M85247,S58541,X55758,X55760,AF498961,BC074978,BC074979,BC096837,NM_000794,CR541922,DA249160,X58987 NP_000785,BAC05902,EAW61376,EAW61377,AAB26273,CAA39284,CAA39286,AAM18131,AAH74978,AAH74979,AAH96837,CAG46720,CAA41734,P21728,Q6FH34 Hs.2624 GDB:125240 DADR|DRD1A protein-coding 736796 DRD2 dopamine receptor D2 This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. 1581445,1580874,1580883,1580884,1625068,1600905,1625010,1358603,1331525,1600903,1600904,1580863 18351593,18332900,18332877,18327668,18307984,18305461,18298267,18270970,18262320,18259088,18255274,18239643,18232064,18218829,18198266,18197085,18197080,18192895,18188764,18188752,18180754,18175338,18088284,18086475,18077373,18075468,18063936,18063800,18058350,18058343,18037170,18030347,18030083,17989061,17948902,17948892,17943029,17931438,17931435,17928119,17908762,17907820,17893706,17850642,17784836,17767146,17761687,17728669,17707567,17706924,17681085,17672918,17671965,17669630,17655760,17654295,17651483,17636204,17615493,17593530,17587443,17585060,17564518,17563839,17543096,17535813,17526637,17500623,17476365,17466074,17455212,17453061,17449559,17449448,17446975,17443131,16648784,16633151,16632165,16585473,16583408,16569110,16526040,16513877,16511856,16427255,16426891,16424823,16402354,16402352,16402081,16396745,16344560,16278074,16216913,16194726,16191743,16183199,16169407,16160620,16139486,16135640,16705078,16679343,16123753,16102380,16094250,16085504,16032443,15381926,15370155,15356268,15347675,15345265,15319572,15318112,15309313,15296817,15286066,15278099,15270299,15229055,15213032,15211624,15203798,15203796,15193608,15184239,15159403,15154861,15140279,15126577,15102843,15094790,15094788,15084894,15077009,15066703,15057523,15050438,14741327,14732864,14732464,14714216,14704269,14668077,14643564,14634838,14628173,14610521,14593428,14583797,14581469,14581109,14572625,14570538,14509080,14499480,14499308,13679114,17407504,17395585,17394052,17380124,17366345,17365509,17362435,17317773,17267664,17230034,17225991,17214892,17208375,17196743,17189962,17175177,17175058,17174573,17147698,17135598,17120049,17113268,17108814,17105675,17102980,17092971,17087792,17085484,17440951,17417059,17081059,17079080,17069991,17044099,17039480,17018139,17007976,16977509,16973280,16959057,16901644,16896957,16867246,16846218,16839358,16816977,16769201,16766132,16766085,16759339,16751215,13130378,12970364,12967602,12967601,12957328,12933819,12921907,12898574,12848308,12834818,12815737,12811641,12808427,12804599,12796525,12784121,12782972,12781734,12762588,12749054,12740603,12722176,12712467,12708251,12707934,12679235,12673575,12663049,12627467,12617772,12605103,12556912,12555236,12509874,12497624,12497608,12496294,12482370,12477932,12428723,12422061,12402271,12399954,12395869,12351722,12297500,12217937,12210290,12210271,12192613,12181426,12151753,12149917,12113906,11992560,11979061,11929577,11920858,11920160,11918988,11918350,16030094,16026865,15992222,15966462,15955630,15939106,15927089,15920508,15917720,15900211,15896265,15858065,15857609,15852061,15850500,15845322,15830237,15812318,15785860,15784967,15721212,15704216,15696493,15694263,15668731,15567074,15564898,15545020,15542731,15542698,15511716,15492764,15489334,15479180,15390060,15389757,15383158,10051231,8824240,17194762,2532362,2531656,18477981,18451638,18434921,18426314,18404133,18389501,18382477,18379473,18373412,18366720,18358985,18354387,11911837,11901357,11900611,11872740,11857579,11840503,11818506,11807408,11803529,11783439,11765615,11740982,11728608,11692072,11600186,11579007,11494094,11425949,11409701,11409697,11353448,11343878,11331109,2480527,2144985,2138729,2137193,1837284,1835903,1478642,1363862,11320256,11278324,15247457,11319183,11304833,11300226,11236836,11236830,11140838,11131175,11104188,11094753,11093282,11054769,11054765,11045783,11024217,10993600,10978845,10753124,10719223,10391935,10220438,9760208,9457173,9166747,8471125,8099194,7902708,7870895,2533064 1581445,1580874,1580883,1580884,1625068,1600905,1625010,1358603,1331525,1600903,1600904 1813 NM_000795,AB065860,AF050737,AP002840,CH471065,M77249,S58589,X51646,AB209832,AF176812,BC021195,BF437994,DA693976,M29066,M30625,NM_016574,S62137,S69899,X51362,X51645 NP_057658,NP_000786,BAC06078,AAC78779,EAW67219,EAW67220,EAW67221,EAW67222,EAW67223,EAW67224,EAW67225,AAA52328,AAB26274,CAB37869,BAD93069,AAF61479,AAH21195,AAA52761,AAA88023,AAA88024,AAB26819,AAB20571,CAA35746,CAB56463,P14416,Q59EH9,Q6LDH7,ABM82846,ABM86030 Hs.73893 GDB:119852 D2DR|D2R dopamine receptor 2 2289454 BW298_H protein-coding 1605735 DRD3 dopamine receptor D3 This gene encodes the D3 subtype of the dopamine receptor. The D3 subtype inhibits adenylyl cyclase through inhibitory G-proteins. This receptor is expressed in phylogenetically older regions of the brain, suggesting that this receptor plays a role in cognitive and emotional functions. It is a target for drugs which treat schizophrenia, drug addiction, and Parkinson disease. Alternative splicing of this gene results in multiple transcript variants that would encode different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). 1625068,1626358,1626359,1626357 8815892,10432116,18484990,18472202,18451638,18449897,18404133,18393218,18389501,18379473,18366720,18351593,18348205,18325483,18320559,18316228,18295456,18270970,18218829,18197272,18045777,18043709,17924589,17923483,17784836,17698325,17671965,17662480,17593530,17579840,17466074,17429404,17407504,17225991,17208375,17175177,17171662,17119697,17109713,17102980,17039480,17018139,16969276,16959057,16839358,16816977,16809426,16759339,16650084,16583407,16513329,16424823,16395310,16160620,16094250,16056149,15998189,15935433,15917720,15785860,15695058,15687500,15643094,15635698,15626824,15567076,15564898,15553379,15539862,15520413,15500962,15489334,15390060,15383158,15342129,15121186,15102843,15094788,15083167,15081259,15004255,14732464,14681904,14634838,14628173,14499480,12967601,12960753,12860355,12834818,12811641,12808427,12796525,12781734,12740603,12721816,12673575,12632798,12605102,12605094,12555237,12509874,12497614,12497608,12477932,12218663,12210290,12207142,12181426,12109967,12082567,12062911,12047334,11920858,11911837,11864723,11857579,11839369,11796958,11762133,11723200,11673801,11490179,11478419,11425949,11400029,11384839,11378841,11341481,11149951,11140838,11140333,11121180,11104840,11063791,11024217,10978845,10391209,9457173,9288103,9034004,8678117,8415635,7961889,2129115,1975644,1916765,11320256,12351722,9843378 1625068,1626358,1626359,1626357 1814 NM_033663,A19667,AC092896,AC093010,AF148807,AF263450,AJ271348,CH471052,NM_000796,L35903,U25441,AK292309,AY228454,AY228455,AY228456,AY228457,AY228458,AY228459,BC095510,BC128122,BC128123,L20469,U32499 NP_387512,CAA01483,AAK28307,CAB70095,EAW79605,EAW79606,EAW79607,EAW79608,NP_000787,EAW79609,EAW79610,EAW79611,EAW79612,AAA64369,AAB08750,BAF84998,AAH95510,AAI28123,AAI28124,AAA03543,AAA73929,P35462,Q13167,Q9BXX6,Q9NY31 Hs.121478 GDB:127159,GDB:9732523 D3DR|ETM1|FET1|MGC149204|MGC149205 protein-coding 736138 DRD4 dopamine receptor D4 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. 1358608,1625010,1331525,1600948,1580863 8746407,1319557,1840645,8413587,18451638,18434921,18409686,18379473,18366720,18361436,18358985,18331372,18330705,18270970,18270821,18239643,18232064,18214865,18194028,18191458,18188752,18171914,18167517,18094258,18081165,18063936,18063308,18028530,17973921,17970718,17955458,17955457,17948872,17931440,17931437,17931433,17922530,16774975,16770765,16760922,16756688,16741944,16736234,16723017,16703401,16642357,16619053,16585476,16526060,16493876,16472910,16455620,16429431,16424823,16389711,16354504,16344718,16342279,16331654,16319504,16316914,16314756,16281377,16272956,16252386,16223700,16182111,16178931,16178930,16167465,16165273,16152802,16143039,16086296,15985158,17508995,17501935,17495196,17474108,17474081,17466074,17440951,17440932,17407504,17406960,17394052,17387332,17325714,17309802,17239353,17236545,17214892,17191306,17178609,17175058,17175015,17171658,17171657,17157268,17156756,17146015,17130883,17109713,17089069,17077808,17052389,17044099,17039480,17028370,17025189,17023870,16996722,16945348,16930369,16921721,16917940,16894395,16887146,16874007,16839358,16829780,16822313,16819620,16816977,16815339,16781678,17893706,17879560,17850946,17822780,17763983,17705902,17680609,17679637,17671965,17657431,17657171,17627031,17611740,17608284,17593530,17587443,17579368,17579349,17574217,17572775,17560555,17556853,17525975,17525955,15917720,15909295,15900228,15860340,15845322,15843770,15839794,15785860,15755724,15738935,15724142,15717291,15694263,15662148,15655563,15640766,15627814,15627807,15621215,15578612,15565493,15564898,15522250,15519116,15517431,15513263,15390060,15383158,15364409,15341274,15319572,15312696,15292670,15288435,15274053,15211638,15206004,15102340,15094788,15094785,15048658,15048656,15048652,15044110,14755438,14702261,14699430,14634838,14623368,14605948,14583797,14581929,14569271,14560322,13129658,12960764,12947560,12898574,12888781,12860364,12860355,12808433,12808427,12796525,12773616,12764221,12740593,12729944,12687422,12668354,12650952,12648742,12627471,12624717,12606846,12605102,12579508,12556912,12509874,12497614,12497608,12452539,12393313,12297500,12232779,12223255,12210280,12192625,12192624,12192615,12142540,12140774,11992560,11992558,11986982,11950104,11901357,11866166,11803443,11803441,11756666,11728608,11718085,11684336,11583250,11496369,11449401,11449395,11443530,11431226,11409696,11354829,11353451,11324944,11282178,11244482,11244477,11140838,11126393,11054777,11054768,10050966,9843378,9118321,8741875,8528256,7881421,7726213,1358063,1349574,17253343,14499480 1358608,1625010,1331525,1600948 1815 AF395260,AF395261,AF395262,AF395263,AF395264,AP006284,AY151027,AY151029,AY151030,AY151031,AY151032,AY151033,AY151034,AY151035,AY151036,AY151037,AY151038,CH471158,S82917,S82918,EU432112,L12398,S76942,L12397,AF395218,AF395219,AF395220,AF395221,AF395222,AF395223,AF395224,AF395225,AF395226,AF395227,AF395228,AF395229,AF395230,AF395231,AF395232,AF395233,AF395234,AF395235,AF395236,AF395237,AF395238,AF395239,AF395240,AF395241,AF395242,AF395243,AF395244,AF395245,AB065765,AB107017,AB107018,AB107019,AF395210,AF395211,AF395212,AF395213,AF395214,AF395215,AF395216,AF395217,NM_000797,AF395246,AF395247,AF395248,AF395249,AF395250,AF395251,AF395252,AF395253,AF395254,AF395255,AF395256,AF395257,AF395258,AF395259 Q8WXN7,Q8WXN8,Q8WXN9,Q8WXP0,Q8WXP1,Q8WXP2,Q8WXP3,Q8WXP4,Q8WXP5,Q8WXP6,Q8WXP7,Q99586,Q99587,AAL35209,AAL35210,AAL35211,AAL35212,AAL35213,AAN73253,AAN73255,AAN73256,AAN73257,AAN73258,AAN73259,AAN73260,AAN73261,AAN73262,AAN73263,AAN73264,EAX02369,AAL58637,AAB46802,AAB46803,ABY87911,AAB59386,AAB33728,P21917,Q0MTB8,Q16303,Q76E76,Q7Z7Q5,Q8IZB1,Q8IZB2,Q8IZB3,Q8IZB4,Q8IZB5,Q8IZB6,Q8IZB7,Q8IZB8,Q8IZC0,Q8NGM5,Q8WTQ0,Q8WTQ5,Q8WTR3,Q8WTR5,Q8WTR9,Q8WTS5,Q8WTS7,Q8WTT3,Q8WTT6,Q8WTT7,Q8WXL5,Q8WXL6,Q8WXL7,Q8WXL8,Q8WXL9,Q8WXM0,Q8WXM1,Q8WXM3,Q8WXM4,Q8WXM5,Q8WXM6,Q8WXM7,Q8WXM8,Q8WXM9,Q8WXN0,Q8WXN1,Q8WXN2,Q8WXN3,Q8WXN4,Q8WXN5,Q8WXN6,AAL35167,AAL35168,AAL35169,AAL35170,AAL35171,AAL35172,AAL35173,AAL35174,AAL35175,AAL35176,AAL35177,AAL35178,AAL35179,AAL35180,AAL35181,AAL35182,AAL35183,AAL35184,AAL35185,AAL35186,AAL35187,AAL35188,AAL35189,AAL35190,AAL35191,AAL35192,AAL35193,AAL35166,NP_000788,BAC05985,BAD00718,BAD00719,BAD00720,AAL35159,AAL35160,AAL35161,AAL35162,AAL35163,AAL35164,AAL35165,AAL35195,AAL35196,AAL35197,AAL35198,AAL35199,AAL35200,AAL35201,AAL35202,AAL35203,AAL35204,AAL35205,AAL35206,AAL35207,AAL35194,AAL35208 Hs.99922 GDB:127782 D4DR dopamine receptor 4 protein-coding 731837 DRD5 dopamine receptor D5 This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. 1580887,734899,1600981,1358609,1580863 17579368,17501935,17427194,17394052,17325714,16774975,16526040,16389711,16380908,15717291,15635698,15489334,14755441,14732464,14699430,14581671,14509667,12967601,12700316,12660802,12623966,12509874,12477932,12351722,12047334,11781417,11459908,11445276,11353446,11140838,11054773,11024217,10659839,10391209,9603210,9457173,8288248,7633397,1834671,1833775,1831904,1774076,1532789,1387108,1826762,16352863,7727453,11036203,10531415,11500503,18270970,18172057,18164132,18081165,16189514 1580887,734899,1600981,1358609 1816 NM_000798,AC098976,CH471069,M67439,U21164,X58454,AY136750,BC009748 NP_000789,EAW92679,AAA52329,CAA41360,AAN01276,AAH09748,P21918,ABM82859,ABM86046 Hs.380681 GDB:127548 DBDR|DRD1B|DRD1L2|MGC10601 dopamine receptor 5 protein-coding 1349573 DRD5P1 dopamine receptor D5 pseudogene 1 1387108 1817 NG_005112,AB065661,AC027612 BAC05887,Q8NGW2 GDB:129035 pseudo 1354254 DRD5P2 dopamine receptor D5 pseudogene 2 7890157,1765268,1387108 1818 NG_005113,AB065590,AL513526 BAC05819,Q8NH22 GDB:129036 pseudo 1312753 DRG1 developmentally regulated GTP binding protein 1 1580863 9824680,1280421,17178897,16189514,15489334,15461802,15184886,12702552,12477932,10760581,10591208,8649774,7929244,1449490 4733 NM_004147,AL096701,AL096702,CH471095,AF078103,AJ005940,AK098576,AL133085,BC019285,BC020803,BT007237,BU584654,CR456488,CR542059,CR590091,CR591838,CR598092,CR608295,CR608931,CR608940,CR610738,CR610947,CR617097,CR618006,CR625851 NP_004138,CAH71744,EAW59974,EAW59975,EAW59976,AAD12240,CAA06775,CAB61403,AAH19285,AAH20803,AAP35901,CAG30374,CAG46856,Q9UFA5,Q9Y295,CAK54479,CAK54778,ABM81616,ABM84798 Hs.115242 GDB:270141 DKFZp434N1827|NEDD3 protein-coding 1343223 DRG2 developmentally regulated GTP binding protein 2 The DRG2 gene encodes the developmentally regulated GTP-binding protein 2, a name derived from the fact that it shares significant similarity to known GTP-binding proteins. DRG2 was identified because it is expressed in normal fibroblasts but not in SV40-transformed fibroblasts. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580863 7929244,16189514,15489334,15113831,12477932,11997338,10828610,10760581,10552926,9605870,9434906 1819 NM_001388,AC087164,CH471196,AB209340,BC000493,BC062572,BT006976,CR591061,CR593963,CR602137,CR604263,CR610770,CR613675,CR619498,CR620496,CR624701,X80754 NP_001379,EAW55669,EAW55670,EAW55671,BAD92577,AAH00493,AAP35622,CAA56730,P55039,Q53Y50,Q59FW9,ABM81694,ABM84855 Hs.78582 GDB:9142879 protein-coding 1353814 DRGX dorsal root ganglia homeobox 728579 7496632 728579 644168 AC027674,AL138760,NM_001080520 A6NNA5,NP_001073989 Hs.534530 DRG11|PRRXL1 protein-coding 732671 DRP2 dystrophin related protein 2 Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. Dystrophin related protein 2 is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. 1580863 8640231,18401567,17105906,17044845,16854501,15858820,15027329,14702039,12951196,12679234,12477932,11430802,10767429 1821 AL022155,CH471115,Z68331,Z70281,AB209305,AK091670,AK289825,BC036095,BC111695,U43519,NM_001939 NP_001930,EAX02844,EAX02845,EAX02846,CAI42016,CAO03505,BAD92542,BAF82514,AAI11696,AAC50538,Q13474,Q2NKQ4,Q59G04,Q5H9K0 Hs.159291 GDB:1391767 MGC133255 dystrophin-related protein 2 a-form splice variant protein-coding 1321863 DSC1 desmocollin 1 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. 1580863 7679953,17088906,16628198,15140019,14673151,12707304,12231347,11790773,11442746,11027496,10644442,9810708,9606214,9214392,9192840,8884173,8507556,8486729,8288219,7971964,7665906,1713860 1823 NM_024421,NM_004948,AC012417,AF293358,CH471088,Y11051,X72925,Z34522 NP_077739,NP_004939,AAG23424,AAG23425,EAX01252,EAX01253,CAA51428,CAA51429,CAA84278,CAA84279,Q08554,Q9HB00,Q9HB01,AAI48350 Hs.567260 GDB:128632 CDHF1|DG2/DG3 protein-coding 1319763 DSC2 desmocollin 2 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. 1580863 2037591,17963498,17186466,17088906,17033975,16740002,16335952,15489334,12707304,12477932,11870231,11853539,11790773,10737800,9810708,9443898,9404003,9325054,9074502,8889548,8507556,8486729,7959727,7929347,7774948,2112455,1889810,7750520 1824 NM_024422,NM_004949,AC012417,CH471088,CS456343,CS456345,Y08431,AK290313,BC063291,BE813598,BU735677,BX648425,CR749226,DC382631,EF017811,EF017812,X56807 NP_077740,NP_004940,EAX01250,EAX01251,CAL91822,CAL91823,BAF83002,AAH63291,CAH56152,CAH18082,ABM88170,ABM88171,CAA40141,CAA40142,Q02487,Q63HM4,Q68DY8 Hs.95612 GDB:6224677 ARVD11|CDHF2|DG2|DGII/III|DKFZp686I11137|DSC3 protein-coding 1323416 DSC3 desmocollin 3 The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Alternative splicing results in two transcript variants encoding distinct isoforms. 1580863 7929347,17846785,17088906,16168112,15951569,12789271,12707304,12615965,11500511,11408939,11181078,11027496,10769211,10482015,9810708,8884173,8486729,7959727,7774948,7665906,1889810 1825 NM_001941,NM_024423,AC025212,AF293359,CH471088,AF297090,AK074475,AK291748,BG697535,CR600534,D17427,X83929 NP_001932,NP_077741,AAG23426,AAG23427,EAX01247,EAX01248,EAX01249,AAG17896,BAF84437,BAA04249,CAA58781,Q14574,Q9HAX1 Hs.41690 GDB:126552 CDHF3|DSC|DSC1|DSC2|DSC4|HT-CP protein-coding 732493 DSCAM Down syndrome cell adhesion molecule 734901,1580863 9426258,18197079,15169762,12435380,12051741,10925149,10830953,16009131 734901 1826 NM_001389,AF042090,AF042091,AF043945,AF064862,AF064863,AF064864,AF064865,AF064866,AF165176,AL163281,AL163282,AL163283,CH471079,AB209136,AF023449,AF023450,AF086100,AF217525,AF289030,BE503065 NP_001380,CAB90444,CAB90436,CAB90464,EAX09620,EAX09621,BAD92373,AAC17966,AAC17967,AAF27525,AAL56711,O60469,Q59GH3,Q8WY19 Hs.397800 GDB:6887019 CHD2-42|CHD2-52 protein-coding 1312583 DSCAML1 Down syndrome cell adhesion molecule like 1 1580863 11453658,12051741,12421765,12168954,10574461 57453 NM_020693,AP000711,AP000757,AP001554,AP002342,CH471065,AB032958,AF304304,AF304305,AF334384,AF491813,AK025940 NP_065744,EAW67322,EAW67323,BAA86446,AAN32613,AAN32614,AAL57166,AAM09558,Q8TD84,AAI56377 Hs.659513 GDB:11505968 KIAA1132 protein-coding 1604296 DSCC1 defective in sister chromatid cohesion 1 homolog (S. cerevisiae) 14702039,12975309,12930902,12766176,12477932,16189514,12171929 79075 AK054585,AK058129,AK074355,AY358866,BC001316,BC001531,CR614540,NM_024094,AC021945,AP005717,CH471060 EAW91994,EAW91995,BAB70767,AAQ89225,AAH01316,AAH01531,Q9BVC3,ABM82193,NP_076999,ABM85381 Hs.315167 DCC1|MGC5528|hDCC1 protein-coding 1353222 DSCR10 Down syndrome critical region gene 10 15489334,12477932,12168953 259234 P59022 NM_148676,AP001425,CH471079,AB066291,AW663423,BC093855,BX115939 NP_683517,EAX09688,BAC07550,AAH93855,P59022 Hs.147695 GDB:11510027 protein-coding 1315747 DSCR3 Down syndrome critical region gene 3 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. 1580863 16780588,15489334,12477932,10830953,9503011,9399594 10311 NM_006052,AP001412,AP001432,CH471079,AJ001867,AK126461,BC110655,BX648191,CR624431,D87343 NP_006043,EAX09710,EAX09711,EAX09712,EAX09713,EAX09714,CAA05058,AAI10656,BAA23225,O14972,O60768 Hs.369488 GDB:9956261 DCRA|DSCRA|MGC117385 protein-coding 1352817 DSCR4 Down syndrome critical region gene 4 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. This gene is found in this region and multiple transcripts may exist. It is mainly expressed in the placenta. 16288839,15489334,12477932,10830953,9503011,9455479 10281 NM_005867,AP001409,AP001410,AP001417,AP001420,CH471079,AB000099,AI817192,BC069729,BC096162,BC096163,BC096164,DQ179113 NP_005858,EAX09691,BAA25877,AAH69729,AAH96162,AAH96163,AAH96164,P56555 Hs.23251 GDB:9955858 DCRB|DSCRB protein-coding 1318761 DSCR6 Down syndrome critical region gene 6 10814524,10830953 53820 NM_018962,AP000704,CH471079,AB037158,AB037159,AB037160,AB037161 NP_061835,EAX09729,EAX09730,BAA96867,BAA96868,BAA96869,BAA96870,P57055,AAI46276,AAI56712 Hs.254560 GDB:10796314 RIPPLY3 protein-coding 1353764 DSCR8 Down syndrome critical region gene 8 9503011,12036297 84677 Q96T75 NM_203429,AF321193 GDB:11501738 1350545 DSCR9 Down syndrome critical region gene 9 15489334,12477932,12168953 257203 NM_148675,AP001432,CH471079,AB066100,AB212286,AB212287,AB212288,AB212289,AB212290,AB212291,BC029827,BC066653 NP_683516,EAX09715,BAC07549,AAH29827,AAH66653,P59020,Q8N637 Hs.505159 GDB:11510029 protein-coding 1312897 DSE dermatan sulfate epimerase The protein encoded by this gene is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene. 1580863 16505484,10679095,16344560,15489334,14702039,14574404,12477932,11920522,11092984 29940 NM_013352,AL050331,AL590542,CH471051,Z84488,AF098066,AK095123,AK128607,AL832471,BC039245,DB282412,NM_001080976 NP_001074445,NP_037484,EAW48229,EAW48230,CAI23407,CAI23408,AAF00087,AAH39245,Q9UL01,ABM82187,ABM85373 Hs.486292 DSEPI|SART2 squamous cell carcinoma antigen recognized by t cells 2 protein-coding 1317082 DSEL dermatan sulfate epimerase-like 16505484,15489334,14702039,12556911,12477932,11752456 92126 NM_032160,AC110597,CH471117,AF480435,AK021539,AK021849,AK023067,AV656576,BC062557,BC117325 NP_115536,EAW66502,AAN32895,BAB13840,BAB13912,BAB14387,AAH62557,AAI17326,Q8IZU8,Q9H951,Q9HAD7 Hs.124673 C18orf4 protein-coding 1320531 DSG1 desmoglein 1 Desmosomes are cell-cell junctions between epithelial, myocardial and certain other cell types. Desmoglein 1 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. The protein encoded by this gene has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus foliaceus. 1598781,1580863 1754823,1770008,11781826,12582396,12485422,1711210,17960181,17640963,17194569,17058228,17056584,16740002,16628198,16484817,16286477,16026580,15610512,15606501,15140227,14675185,12880431,12880414,12847106,12787134,12707304,12209366,12093888,12058255,11790773,11294567,10332028,9606214,9443898,9405290,8143788,8034325,7790000,7738346,1889810,1720352,17353931 1598781 1828 NM_001942,AC009717,AJ001716,CH471088,AF088042,AF097935,BX476267,X56654 NP_001933,CAA04949,EAX01254,AAC83817,CAA39976,Q02413,Q712V6,AAI48375,AAI53002 Hs.2633 GDB:126563 CDHF4|DG1|DSG protein-coding 1322446 DSG2 desmoglein 2 Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 2 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This second family member is expressed in colon, colon carcinoma, and other simple and stratified epithelial-derived cell lines. 1580863 17804817,17559062,17495963,17227756,17105751,17081983,16820949,16773573,16505173,16335952,16212419,15342556,12787134,12754519,12707304,12477932,11853539,11790773,11710948,10769205,10482015,9579833,9511724,8641550,8143788,7790000,1935985,1612610,9214392,8749329 1829 NM_001943,NG_007072,AC021549,AC079096,CH471088,BC099655,BC099656,BC099657,BP353513,Z26317 NP_001934,EAX01261,EAX01262,AAH99655,AAH99656,AAH99657,CAA81226,Q14126 Hs.412597 GDB:128808 ARVC10|ARVD10|CDHF5|HDGC|MGC117034|MGC117036|MGC117037 protein-coding 1348238 DSG3 desmoglein 3 (pemphigus vulgaris antigen) Desmosomes are cell-cell junctions between epithelial, myocardial, and certain other cell types. Desmoglein 3 is a calcium-binding transmembrane glycoprotein component of desmosomes in vertebrate epithelial cells. Currently, three desmoglein subfamily members have been identified and all are members of the cadherin cell adhesion molecule superfamily. These desmoglein gene family members are located in a cluster on chromosome 18. This protein has been identified as the autoantigen of the autoimmune skin blistering disease pemphigus vulgaris. 1580863 18095943,17846785,17640963,17532189,17431647,17428808,17255524,17113829,17084439,16878157,16842599,16763546,16740002,16403096,16377623,16344560,16015083,14675184,12953062,12787134,12707304,12586364,12496453,12485422,12477932,12138195,11710914,11425269,10949543,9710446,9424092,9405290,9074502,8663392,8320263,8143788,8034325,7738346,1720352,1601426,11500511 1830 NM_001944,AC021549,CH471088,CS223365,U52195,Y08432,AI608626,AK290367,BC105997,BX110234,BX507120,BX538327,DA447747,DA458544,M76482,U51696 NP_001935,EAX01258,EAX01259,CAJ46922,BAF83056,CAD98098,AAA60230,P32926,Q7Z2Z5 Hs.1925 GDB:134030 CDHF6|DKFZp686P23184|PVA protein-coding 1348036 DSG4 desmoglein 4 1599796,1302434,1580863 17392831,16533311,16382669,15545999,15489334,15191570,12705872,12648213,12477932 1599796,1302434 147409 NM_177986,AC021549,AY177663,CH471088,CS223437,AY168788,AY177664,AY227350,AY228236,BC039098,BC132907,BC132909 NP_817123,AAO47077,EAX01256,EAX01257,CAJ46939,AAO43657,AAO47078,AAP45000,AAP49811,AAH39098,AAI32908,AAI32910,Q86SJ6 Hs.407618 CDGF13|CDHF13|LAH protein-coding 1353084 DSN1 DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) 15502821,16585270,17081983,16565220,15489334,14702039,12477932,11780052,15371340 79980 AL132768,CH471077,AK023408,AK093031,AK290738,BC026011,NM_024918,BC035821,BC058899,CR593336,CR594821 NP_079194,CAC10099,CAI21465,CAI21466,CAI21468,CAI21469,CAI21470,EAW76101,EAW76102,EAW76103,EAW76104,EAW76105,EAW76106,EAW76107,EAW76108,BAB14564,BAC04024,BAF83427,AAH26011,AAH58899,Q4G1A1,Q5JW53,Q5JW54,Q5JW55,Q5JW57,Q5JW58,Q5JW59,Q9H410 Hs.632268 GDB:11505186 C20orf172|FLJ13346|MGC32987|MIS13|dJ469A13.2 chromosome 20 open reading frame 172 protein-coding 1314043 DSP desmoplakin Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus. 1580890,1580891,1580892,1580863 10908733,9887343,17593084,17475244,16917092,16628197,16565220,16467215,16365169,16175511,16061754,15941723,15500642,15494820,15381698,15302935,15190119,15146197,14574404,12875771,12482924,12426320,12373648,12366696,12101406,11955647,11841538,11790773,11790298,11132762,11063735,10852826,10801826,10737800,10594734,9780002,9739078,9651377,9606214,9417921,9348293,9261168,8999895,7525601,7525582,2391353,2247105,1889810,1731325,1716629,1689290,12615965,12707304,17353931,14743216 1580890,1580891,1580892 1832 NM_004415,NM_001008844,AL031058,CH471087,AB209992,AF139065,AI304615,AK130229,AL713599,AL713610,AW890985,BC140802,CN282963,J05211,M77830 NP_004406,NP_001008844,CAA19927,EAW55215,BAE06074,AAF19785,BAC85309,AAI40803,AAA35766,AAA85135,P15924,Q4LE79,Q6ZP16 Hs.519873 GDB:126564 DPI|DPII protein-coding 69028 DSPP dentin sialophosphoprotein This gene encodes two principal proteins of the dentin extracellular matrix of the tooth. The preproprotein is secreted by odontoblasts and cleaved into dentin sialoprotein and dentin phosphoprotein. Dentin phosphoprotein is thought to be involved in the biomineralization process of dentin. Mutations in this gene have been associated with dentinogenesis imperfecta-1; in some individuals, dentinogenesis imperfecta occurs in combination with an autosomal dominant form of deafness. Allelic differences due to repeat polymorphisms have been found for this gene. 734904,1580863 9533027,9493074,16014627,9879917,8995371,18211748,17686168,17033625,16920545,16679514,16567553,16108038,15954904,15371433,15329369,12097430,11856645,11175790,11175779,10980418,10706475,9541230,9541227 734904 1834 NM_014208,AC093895,AF163151,CH471057,AF094508 NP_055023,AAF42472,EAX05993,EAX05994,EAX05995,AAD16120,Q9NZW4 Hs.678914 GDB:5560457 DFNA39|DGI1|DMP3|DPP|DSP|DTDP2 protein-coding 1346596 DSS dosage-sensitive sex reversal 7951319 GDB:433750 1605439 DST dystonin This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been known that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. 8575775,11375975,17043677,11751855,10428034,2461961,14581450,17920818,17161423,17081983,16512878,16344560,15725571,15560761,15489334,15342556,15231748,14705806,14702039,14576348,14574404,12802069,12542537,12482924,12477932,12421765,12168954,11323216,10727295,10637308,9872452,8889549,8889548,8621649,8349819,8345227,8010969,7919656,7818282,3880796,2645368,2579167,2276744,2090522,2045679,1717441,1712022 667 NM_183380,NM_015548,NM_020388,NM_001723,AL049215,AL096710,AL137008,AL512422,AL512448,BP348892,BU679879,CR615150,CR619332,CR621475,DA449443,DA462108,DA786051,L11690,M22942,M63618,M69225,U31850,U31851,X58677,X75692,AB018271,AF083131,AF165191,AF400226,AF400227,AK023487,AK025142,AK055189,AK056797,AK090517,AK094883,AK095166,AK096713,AK125655,AK128632,AL110142,AU117550,AY032900,AY032901,BC004912,BC016991,BC023254,BC051772,BC065536,AA150769,AL590005,AL590037,CH471081,L08972,S73730,U04850 NP_899236,NP_056363,NP_065121,NP_001714,CAI22042,CAI22043,CAI22044,CAI22045,CAI22046,CAI22047,CAI20330,CAI20331,CAI20332,CAI14340,CAI14341,CAI14342,CAI16608,CAI16609,AAH65536,AAA52288,AAA35538,AAA35606,AAC50243,AAC50244,CAA41528,O94833,Q03001,Q5T0V7,Q5TBT1,Q5TBT2,Q5TF24,Q6P0N6,BAA34448,AAF98241,AAD49334,AAL62061,AAL62062,BAB15077,BAB70870,BAC04449,BAC04848,AAK63130,AAK63131,AAH04912,AAH16991,AAH51772,CAI16610,CAI14987,CAI14988,CAI14989,CAI12111,EAX04456,EAX04457,EAX04458,EAX04459,EAX04460,EAX04461,EAX04462,EAX04463,EAX04464,EAX04465,EAX04466,EAX04467,AAA57184,AAA57185,Q86T18,Q8WXK8,Q9BSP9,Q9H722,Q9HDA7,Q9UN10 Hs.631992,Hs.669931 BP240|BPA|BPAG1|CATX-15|D6S1101|DKFZp564B2416|DMH|DT|FLJ46791|KIAA0465|KIAA1470|MACF2 protein-coding 1312065 DSTN destrin (actin depolymerizing factor) The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. 8399167,17583572,17196218,17081983,16189514,15862967,15816841,15489334,15231748,14627701,12700171,12665801,12477932,11812157,11780052,11418599,8674111,7615564,2156828,12775419,17353931 11034 CR604335,CR607210,CR608580,CR609251,CR610796,CR612561,CR613178,CR615007,CR622679,CR623027,CR623701,S65738,NM_001011546,NM_006870,AL132765,CH471133,AI597935,BC009477,BX647319,CN482756,CR457042,CR541956,CR591834,CR596061,CR598189,CR601160,CR602092 AAB28361,P60981,NP_001011546,NP_006861,CAC10585,EAX10274,EAX10275,EAX10276,AAH09477,CAG33323,CAG46754 Hs.304192,Hs.705996 GDB:249179 ACTDP|ADF|bA462D18.2 protein-coding 1347324 DSTNP1 destrin (actin depolymerizing factor) pseudogene 1 387492 1323478 DTD1 D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae) The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein is found in the cytoplasm. 1580863 15653697,15489334,14702039,12477932,12392168,11780052,8889548 92675 NM_080820,AL121780,AL121900,CH471133,AF332356,AK074304,AK291440,BC000599,BC045167,BC100923,BC100924,BC100925,BC100926,BI465352,BU729150,DB550292 NP_543010,CAH73147,EAX10227,EAX10228,AAL57046,BAB85044,BAF84129,AAH00599,AAH45167,AAI00924,AAI00925,AAI00926,AAI00927,Q496C9,Q8TEA8 Hs.659442 GDB:11505290 C20orf88|DUEB|HARS2|MGC119131|MGC41905|bA379J5.3|bA555E18.1|pqn-68 histidyl-trna synthetase 2 protein-coding 1604818 DTL denticleless homolog (Drosophila) 17106265,17085480,16964243,16949367,16861906,16861890,16710414,16344560,15489334,14702039,12477932,11278750,17041588 51514 NM_016448,AC092814,AL592297,AL606468,CH471100,AF195765,AF345896,AK000742,AK001206,AK001261,AK027651,AK292343,BC033297,BC033540,BF508267,DB070033,DQ641253 NP_057532,EAW93395,EAW93396,EAW93397,EAW93398,AAF35182,AAK54706,BAA91355,BAA91552,BAA91586,BAB55267,BAF85032,AAH33297,AAH33540,ABG23317,Q9NZJ0 Hs.656473 CDT2|DCAF2|L2DTL|RAMP protein-coding 1343196 DTNA dystrobrevin, alpha The protein encoded by this gene belongs to the dystrobrevin subfamily and the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. This protein may be involved in the formation and stability of synapses as well as the clustering of nicotinic acetylcholine receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. 1580893,1580863 12034776,11316798,11238270,11069112,11053421,11053293,10767429,10747910,10735273,10545507,9701558,9533777,9419360,9356463,9215691,9146999,8845841,8631824,8576247,8081380,7844150,12206805,11353857,9119373,10767327,18299519,16713569,15835271,15834686,15024025,14702039,14623885,12899872,12604589,12477932,12475945,12416719 1580893 1837 NM_032975,NM_032979,NM_001392,NM_032978,NM_001390,NM_001391,NM_032980,NM_032981,AC009277,AC013290,AC022601,AC068506,AC103768,AP002411,CH471088,AL833285,BC005300,BC033969,BC047095,BG250424,BG705393,BI668892,BT006937,CR611269,CR621250,R13506,R20627,T80537,U26742,U26743,U26744,U46744,U46745,U46746,U84540,U84547,U84551,AB209102,AI670964,AJ009668,AK054766,AK291156 NP_116757,NP_116761,NP_001383,NP_116760,NP_001381,NP_001382,NP_116762,NP_116763,EAX01319,EAX01320,EAX01321,EAX01322,EAX01323,EAX01324,BAF83845,AAH05300,AAP35583,AAC50424,AAC50425,AAC50426,AAC50429,AAC50430,AAC50431,Q59GK7,Q9BS59,Q9Y4J8,AAP36484,EAX01325,EAX01326,EAX01327,EAX01328,EAX01329,EAX01330,EAX01331,EAX01332,EAX01333,AAB58541,AAB58542,AAB58543,BAD92339,CAA08769 Hs.709244 GDB:9834186 D18S892E|DRP3|DTN|LVNC1 protein-coding 1319991 DTNB dystrobrevin, beta This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified. 9395493,16448387,16189514,14759258,14702039,14623885,14600269,12477932,11316798,10747910,10545507,9540997,9419360,9373149,9146999,9110174,8619474,8125298 1838 NM_183361,NM_033148,NM_033147,NM_183360,NM_021907,AC010150,AC012074,AC019144,AC104699,CH471053,AF022728,AF070567,AK022277,AK094494,AK225724,BC016655,BC049366,BT009805,CR619470,CR622461,DQ160290,R15062,Y12712,Y15718,Y15719,Y15720,Y15721,Y15722 NP_899205,NP_149160,NP_149159,NP_899204,NP_068707,AAY14840,AAY14762,AAY24111,AAY24207,EAX00719,EAX00720,EAX00721,EAX00722,EAX00723,EAX00724,EAX00725,AAC05082,AAC28643,AAH16655,AAH49366,AAP88807,ABA08463,CAA73249,CAA75733,CAA75734,CAA75735,CAA75736,CAA75737,O60941,Q1I0L3,Q53QV1,Q53SF9,Q53T51,Q53TC8,Q86VR4,Q96AW0 Hs.307720 GDB:9834193 MGC17163|MGC57126 protein-coding 1342501 DTNBP1 dystrobrevin binding protein 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 1358610,1580863 18180429,18162312,17989303,17964051,17961984,17945199,17888175,17618940,17604607,17555717,17476109,17445278,17433541,17410640,17408693,17407805,17336946,17300918,17290445,17264804,17192893,17074466,17055463,17033966,16980328,16967465,16959423,16946192,16930638,16899160,15102850,18473158,18466879,18411704,18314870,18198266,18182443,16876895,16837549,16513878,16448387,16415041,16407900,16283082,16189514,16133786,16044171,15917270,15820225,15489334,15374586,15362017,15345706,15274041,15248869,15211634,15124027,15124015,15121479,15066891,14702039,14688250,14618545,14574404,12923531,12888799,12808430,12591580,12576321,12477932,12474144,12453182,12191018,12098102,11316798,11230166 1358610 84062 NM_183041,NM_032122,NM_183040,AL021978,AL022343,CH471087,AF061734,AF394226,AK054593,AK290718,AL136637,AY265460,BC011912,BQ108775,CR599171,CR603457,CR623452 NP_898862,NP_115498,NP_898861,CAI42339,CAI42340,CAI21976,CAI21977,EAW55359,EAW55360,EAW55361,EAW55362,EAW55363,EAW55364,AAG43145,AAL46636,BAB70770,BAF83407,CAB66572,AAP91870,AAH11912,Q96EV8 Hs.571148 GDB:11505970 DBND|DKFZP564K192|FLJ30031|HPS7|MGC20210|My031|SDY protein-coding 1604324 DTWD1 DTW domain containing 1 12477932 56986 NM_020234,AC018927,CH471082,AF168717,AK290184,BC018028,BC032535,BC093073,CR621462 NP_064619,EAW77377,EAW77378,EAW77379,AAF87319,BAF82873,AAH18028,AAH32535,AAH93073,Q8N5C7,ABM81803,ABW03294 Hs.127432 MDS009|MGC111207 protein-coding 1604482 DTWD2 DTW domain containing 2 15489334,14702039,12477932,2708378,1612591 285605 NM_173666,AC008629,AC010462,CH471086,AK091296,BC012294,BC114508,BC114955,BX648369 BAC03630,NP_775937,EAW48922,EAW48923,EAW48924,EAW48925,AAI14509,AAI14956,Q8NBA8 Hs.655891 FLJ33977|MGC138579|MGC138580 protein-coding 1353899 DTX1 deltex homolog 1 (Drosophila) Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. 11564735,7671825,9590294,15489334,12753744,12670957,12617994,12477932,11869684,11153911,9244302,11226752 1840 NM_004416,AC089999,CH471054,AF053700,BC005816,BC008321,BC048216,CR620865 NP_004407,EAW98028,EAW98029,AAC06246,AAH05816,AAH48216,Q86Y01 Hs.372152 GDB:9837404 hDx-1 protein-coding 1322389 DTX2 deltex homolog 2 (Drosophila) 16189514,17286044,16713569,16400609,16344560,15489334,15342556,14702039,12853948,12670957,12477932,11564735,11226752,10819331,9847074,7671825,15778465 113878 NM_020892,NM_001102594,NM_001102595,NM_001102596,AC005522,AC007078,CH471325,AB040961,AK023924,AK026252,AY225124,AY225125,BC008856,BC013192,BC018555,BC026059,BC064535,BC093079,BP306192,CR604084,DA003606,DA917716,DQ010329,DQ082728,DQ082730 NP_065943,NP_001096064,NP_001096065,NP_001096066,AAP21881,AAS07525,EAW50382,BAA96052,BAB14727,AAP57518,AAP57519,AAH08856,AAH18555,AAH26059,AAH64535,AAH93079,AAY27263,AAZ06433,AAZ06435,Q4FEB2,Q4FEB4,Q4ZH49,Q6P2H0,Q6XM87,Q6XM88,Q75MM6,Q86UW9,ABM84190,ABM87592 Hs.187058 GDB:11500729 KIAA1528|MGC71098|RNF58 protein-coding 1347578 DTX3 deltex 3 homolog (Drosophila) 1580863 17028573,14702039,12670957,12477932,11226752,7671825 196403 NM_178502,AC022506,AC025165,CH471054,AK092085,AK094385,AK128752,AL831941,AY225126,BC035831,BC114441,BC114498 NP_848597,EAW97032,EAW97033,EAW97034,EAW97035,BAC03801,BAC04344,CAD38593,AAP57520,AAI14442,AAI14499,Q53ZZ2,Q8N9I9 Hs.32374 FLJ34766|MGC138863|MGC138864|RNF154 protein-coding 1344833 DTX3L deltex 3-like (Drosophila) 737633,1580863 16809771,15489334,12670957,12477932 737633 151636 NM_138287,AC092908,CH471052,AF484416,AK125086,AL833598,AY225123,AY780792,BC016846,BC040372,BC042191,BC060509,BX648267,BX648645 NP_612144,EAW79476,AAL90859,AAP57517,AAV98362,AAH42191,AAH60509,Q53ZZ3,Q5MJP7,Q8TDB6 Hs.518201 BBAP protein-coding 1323395 DTX4 deltex 4 homolog (Drosophila) 1580863 15684394,15489334,12477932,10231032 23220 NM_015177,AP001258,AP002358,CH471076,AB023154,AF086290,BC015592,BC119011,BC122861,BF195769,CR607077 NP_055992,EAW73838,BAA76781,AAI19012,AAI22862,Q9Y2E6 Hs.523696,Hs.706862 KIAA0937|MGC141899|RNF155 protein-coding 1320047 DTYMK deoxythymidylate kinase (thymidylate kinase) 1580863 18469,8024690,15489334,12614151,12477932,11008000,9373149,8125298,6244089,2538159,2017365 1841 BG765702,BM552707,BQ021114,CF528035,CR541986,CR542015,CR593291,CR599450,CR604693,CR606301,CR620414,CR623128,L16991,X54729,AC133528,AC133781,CH471063,AF258562,AK126180,AK223434,BC001827,BC147006,BC147010,NM_012145 CAG46783,CAG46812,CAA38528,P23919,Q53F55,Q6FGU2,Q6ZTV3,Q8WY85,NP_036277,AAY14920,EAW71282,EAW71283,EAW71284,EAW71285,EAW71286,AAG23765,BAC86476,BAD97154,AAH01827,AAI47007,AAI47011 Hs.471873 GDB:127511 CDC8|FLJ44192|TMPK|TYMK protein-coding 1605214 DUB3 deubiquitinating enzyme 3 DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM] 14699124 377630 NM_201402,AC130366,AY509884 NP_958804,AAR91701,Q6R6M4,AAI56291,AAI57074 Hs.531448 protein-coding 1320917 DULLARD dullard homolog (Xenopus laevis) 1580863 17420445,17141153,12477932,12083771 23399 NM_015343,AC003688,AC120057,CH471108,AJ011916,AY364239,BC009295,CR599503,CR606307,CR609735,CR611348,CR620750,CR625645,CR626679 NP_056158,EAW90233,EAW90235,EAW90236,CAA09865,AAQ76798,AAH09295,O95476,ABM84056,ABM87408 Hs.513913 HSA011916|NET56 protein-coding 1345114 DUOX1 dual oxidase 1 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX2. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 727755,1580863 10806195,11514595,16111680,15062544,18281478,17337509,17135261,16608528,16478776,15972824,15677770,15640347,15561711,15489334,15210697,14702039,12824283,12482831,12477932,11822874,11762710,11753072,11443211,10601291 727755 53905 NM_017434,NM_175940,AC051619,AC091117,CH471082,AF213465,AF230495,AK075268,AK128591,AK172859,AK290372,AL137592,BC114628,BC114938 NP_059130,NP_787954,EAW77295,EAW77296,EAW77297,AAF71295,AAF73921,BAC87516,BAD18816,BAF83061,CAB70831,AAI14629,AAI14939,Q14C85,Q9NRD9,Q9NT13 Hs.272813 GDB:10796316 LNOX1|MGC138840|MGC138841|NOXEF1|THOX1 protein-coding 1353863 DUOX2 dual oxidase 2 The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. 727755,734905 15972824,16111680,10601291,15062544,18281478,17684392,17374849,16651268,16608528,16478776,16322276,16134168,15677770,15591162,15561711,15210697,15150274,12824283,12110737,11822874,11762710,11753072,11514595,11443211,11032719,10806195,10737800 727755,734905 50506 NM_014080,AC091117,CH471082,AB209010,AF181972,AF230496,AF267981,BI045475 NP_054799,EAW77288,BAD92247,AAF20055,AAF73922,AAF78954,Q59GU9,Q9NRD8 Hs.71377 GDB:9570020 LNOX2|NOXEF2|P138-TOX|THOX2 protein-coding 1602196 DUOXA1 dual oxidase maturation factor 1 16651268,16254247,15489334,14702039,14670962,12477932 90527 NM_144565,AC091117,CH471082,AK056896,AK292771,BC020841,BC029819,DQ489735 NP_653166,EAW77290,EAW77291,EAW77292,EAW77293,EAW77294,BAB71304,BAF85460,AAH20841,AAH29819,ABF48257,Q1HG43 Hs.356664 FLJ32334|NIP|NUMBIP|mol protein-coding 1603235 DUOXA2 dual oxidase maturation factor 2 16651268,16344560,18042646,17374849 405753 NM_207581,AC091117,CH471082,BC137465,BX537581,DB243076,DQ489734 NP_997464,EAW77289,AAI37466,ABF48256,Q1HG44 Hs.497987 protein-coding 1321010 DUPD1 dual specificity phosphatase and pro isomerase domain containing 1 17498703 338599 NM_001003892,AC018511,CH471083,AY686755 NP_001003892,EAW54560,AAT94288,Q68J44 Hs.535090 DUSP27|FMDSP protein-coding 1349024 DURS1 Duane's retraction syndrome 1 7849713 10674 GDB:9958126 1351671 DURS2 Duane retraction syndrome 2 10577917 27011 1605962 DUS1L dihydrouridine synthase 1-like (S. cerevisiae) 15489334,12477932 64118 CR595531,CR597476,CR605112,CR613860,CR614184,CR618091,AC135056,CH471099,AF202637,AK226154,AL539521,BC003659,BC017081,BC062566,BC064918,BG709424,BM907569,CR593820,CR595450,NM_022156 Q6P1R4,Q9BTJ3,Q9HBV3,NP_071439,EAW89743,EAW89744,AAG22491,AAH03659,AAH17081,AAH62566,AAH64918 Hs.514599 DUS1|PP3111 protein-coding 1603040 DUS2L dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) Dihydrouridine synthase catalyzes reduction of the 5,6-double bond of a uridine residue on the displacement loop of tRNA. The resultant modified base, 5,6-dihydrouridine, appears to increase the conformational flexibility and dynamic motion of tRNA (Kato et al., 2005 [PubMed 15994936]).[supplied by OMIM] 18096616,15994936,15489334,14702039,12477932 54920 NM_017803,AC130462,CH471092,AB101210,AK000406,AK290578,BC006527,CR593912,CR611004,CR613036,CR624298 NP_060273,EAW83207,EAW83208,EAW83209,BAE07219,BAA91143,BAF83267,AAH06527,Q9NX74 Hs.534460 DUS2|FLJ20399|SMM1|URLC8 protein-coding 1604330 DUS3L dihydrouridine synthase 3-like (S. cerevisiae) 15489334,14702039,12477932,9373149 56931 NM_020175,AC011499,CH471139,AF074704,AF091072,AK023958,AK225840,AL365411,BC004549,BC008362,BC009973,CR598491 NP_064560,EAW69141,EAW69142,EAW69143,EAW69144,EAW69145,EAW69146,AAC72941,BAB14740,CAB96955,AAH04549,AAH08362,AAH09973,O95323,Q96G46 Hs.284297 DUS3|FLJ13896 protein-coding 1602492 DUS4L dihydrouridine synthase 4-like (S. cerevisiae) 15489334,12690205,12477932,8889549,14499622 11062 NM_181581,AC002381,AC004839,CH236947,CH471070,AA157330,AK127802,AL523141,AW954755,BC111774,BG250736,BQ771928,BU621752,CR602101,CR605496,CR625341,U62767 NP_853559,EAL24391,EAW83399,EAW83400,EAW83401,EAW83402,EAW83403,EAW83404,AAI11775,AAD00100,O95620 Hs.97627 DUS4|MGC133233|PP35 protein-coding 732954 DUSP1 dual specificity phosphatase 1 The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues. Furthermore, it suppresses the activation of MAP kinase by oncogenic ras in extracts of Xenopus oocytes. Thus, DUSP1 may play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. 1580863 1406996,16286470,18095520,18089824,18003751,17848570,17761948,17690186,17681939,17638884,17489738,17131384,17073741,16951204,16387640,16293973,16289033,16224818,16081065,16044158,15677475,15614136,15590693,15569826,15489334,15448190,15339908,15247770,15173070,15059515,14724291,14702039,14680833,14551204,12960255,12947325,12890671,12765304,12506119,12477932,12432554,12391149,12356755,12080474,11278799,11062068,10617468,9599409,9571625,8390041,8389479,8221888,8168826,8106404,7806236,7535770 1843 AC022217,CH471062,CS300525,DQ301957,U01669,AK127679,BC022463,CR602951,CR615379,CR625400,X68277,NM_004417 EAW61425,EAW61426,CAK32189,ABB96250,AAH22463,CAA48338,P28562,NP_004408 Hs.171695 GDB:136197 CL100|HVH1|MKP-1|MKP1|PTPN10 protein tyrosine phosphatase, non-receptor type 16 protein-coding 1321979 DUSP10 dual specificity phosphatase 10 Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAPK superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAPKs, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK, but not MAPK/ERK. Its subcellular localization is unique; it is evenly distributed in both the cytoplasm and the nucleus. This gene is widely expressed in various tissues and organs, and its expression is elevated by stress stimuli. Three transcript variants encoding two different isoforms have been found for this gene. 10391943,17681939,17400920,17151092,16806267,16710414,16565220,15489334,12477932,11359773,11060451,10597297,9571625 11221 NM_144729,NM_007207,NM_144728,AL590966,CH471100,AB026436,AF179212,AK022513,BC020608,BC031405,BC063826,BQ000769,BQ082194,BQ223632,CR457092 NP_653330,NP_009138,NP_653329,CAH71120,EAW93283,EAW93284,EAW93285,EAW93286,EAW93287,BAA81668,AAD51857,BAB14070,AAH20608,AAH31405,AAH63826,CAG33373,Q6IAR2,Q9H9Z5,Q9Y6W6,ABM86183,ABW03693 Hs.497822 GDB:9957448 MKP-5|MKP5 protein-coding 1315996 DUSP11 dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus, and is novel in that it binds directly to RNA and splicing factors, and thus suggested to participate in nuclear mRNA metabolism. 1580863 9685386,15635413,15489334,12477932,10347225,16189514 8446 NM_003584,AC092653,CH471053,AF023917,BC000346,CR608498,CR627368 NP_003575,EAW99718,EAW99719,AAC39925,AAH00346,CAH10467,O75319,ABM82282,ABM85463 Hs.14611 GDB:9955171 PIR1 protein-coding 731810 DUSP12 dual specificity phosphatase 12 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. 1580863 10446167,18269685,16936214,16710414,16189514,15489334,12477932,8670865 11266 NM_007240,AL359541,CH471067,AF119226,AK000259,BC006286,BT006633,CR599391,CR603104,CR611136,CR619976 NP_009171,CAH74153,EAW90692,AAD51134,AAH06286,AAP35279,Q9UNI6,ABM83692,ABM87010 Hs.416216 GDB:11500373 DUSP1|YVH1 protein-coding 1344710 DUSP13 dual specificity phosphatase 13 Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. 1580863 10585869,17044055,16189514,15761153,15489334,15252030,15164054,14702039,12477932 51207 BU580940,CR457094,NM_001007272,NM_001007273,NM_001007271,NM_016364,AL392111,CH471083,AB027004,AB103375,AI971328,AK057012,AK127886,AK291891,AK291897,AY040091,AY674051,BC009778 CAG33375,Q6B8I1,Q6IAR0,Q96J67,Q9UII6,ABM83658,ABM86905,NP_001007273,NP_001007274,NP_001007272,NP_057448,CAI40905,EAW54561,EAW54562,EAW54563,EAW54564,BAA89412,BAD91014,BAF84580,BAF84586,AAK77966,AAT79356,AAH09778 Hs.178170 GDB:11511170 BEDP|DUSP13A|DUSP13B|FLJ32450|MDSP|SKRP4|TMDP protein-coding 1316598 DUSP14 dual specificity phosphatase 14 In addition to antigen recognition by the T-cell receptor, T-cell activation requires a second signal from a costimulatory receptor, such as CD28 (MIM 186760), which interacts with B7-1 (CD80; MIM 112203) and B7-2 (CD86; MIM 601020) ligands on antigen-presenting cells. CD28 costimulation induces transcription of interleukin-2 (IL2; MIM 147680) and stabilizes newly synthesized IL2 through the activation of mitogen-activated protein kinases (MAPKs), such as ERK (e.g., MAP2K4; MIM 601335) and JNK (see MIM 601158), and the subsequent creation of AP1 transcription factor (see MIM 165160). DUSP14 is a negative regulator of CD28 signaling.[supplied by OMIM] 1580863 18201568,17178844,15489334,12477932,11123293 11072 CR623101,CR623161,CR623231,CR625439,CR617844,AF038844,AF120032,AK027210,BC000370,BC001894,BC004448,CR536500,CR541800,CR595784,CR598453,CR599138,CR603252,CR604963,CR606946,CR608141,NM_007026,AC004099,CH471199 O95147,Q6FI36,ABM82305,ABM85482,ABW03434,EAW57593,AAD02105,AAF28861,AAH00370,AAH01894,AAH04448,CAG38739,CAG46599,NP_008957,EAW57592 Hs.91448 GDB:9956404 MKP-L|MKP6 protein-coding 1314347 DUSP15 dual specificity phosphatase 15 The protein encoded by this gene belongs to the non-receptor class of the protein-tyrosine phosphatase family. The encoded protein has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. Three transcript variants encoding two different isoforms have been found for this gene. 1580863 16170801,15489334,15138252,14702039,12477932,11780052,10737800 128853 NM_080611,NM_177991,NM_001012644,AL160175,CH471077,AI051640,AK091960,AL732169,BC056911,BF377396,BI517878,BI560652,BI562598,BI829823,CR617339 NP_542178,NP_817130,NP_001012662,CAI12819,CAI12820,CAI12821,CAI12822,EAW76409,EAW76410,AAH56911,Q9H1R2 Hs.585017 GDB:11505972 VHY dual specificity phosphatase-like 15 protein-coding 1321793 DUSP16 dual specificity phosphatase 16 The activation of mitogen-activated protein kinase (MAPK) cascades transduces various extracellular signals to the nucleus to induce gene expression, cell proliferation, differentiation, cell cycle arrest, and apoptosis. For full activation of MAPKs, dual-specificity kinases phosphorylate both threonine and tyrosine residues in MAPK TXY motifs. MKPs are dual-specificity phosphatases that dephosphorylate the TXY motif, thereby negatively regulating MAPK activity.[supplied by OMIM] 1580863 11489891,15888437,15689616,15489334,14702039,14586399,12794087,12524447,12477932,11359773,11214970 80824 NM_030640,AC007619,AC092824,CH471094,AB051487,AB052156,AF506796,AK022103,AK055973,AL137633,AY038927,BC031643,BC042101,BC109234,BC109235 NP_085143,EAW96262,EAW96263,EAW96264,BAB21791,BAB40814,AAN75120,BAB71060,AAK69770,AAH31643,AAH42101,AAI09235,AAI09236,Q32MA0,Q8IVT8,Q8N5T1,Q96N49,Q96QS2,Q9BY84 Hs.536535 GDB:11510031 KIAA1700|MGC129701|MGC129702|MKP-7|MKP7 protein-coding 1315821 DUSP18 dual specificity phosphatase 18 DUSP18 is a member of the dual-specificity phosphatase (DSP) family (see DUSP1; MIM 600714), which catalyzes dephosphorylation of phosphotyrosine and phosphothreonine residues (Hood et al., 2002 [PubMed 12408986]).[supplied by OMIM] 1580863 15489334,15461802,14702039,12591617,12477932,12408986,16720344,16699184 150290 NM_152511,AC003072,CH471095,AF461689,AF533017,AI699242,AK025036,AK056074,BC004110,BC028724,BC030987,CR456406 NP_689724,EAW59913,EAW59914,EAW59915,AAN77931,AAN59787,AAH30987,CAG30292,Q8N751,Q8NEJ0,CAK54395,CAK54694 Hs.517544 DSP18|DUSP20|LMWDSP20|MGC32658|bK963H5.1 protein-coding 1316661 DUSP19 dual specificity phosphatase 19 1580863 15815621,15489334,14702039,12479873,12477932,11959862,11959861 142679 BX647818,NM_080876,AC064871,CH471058,AB038770,AB063186,AB063187,AF486808,AK094800,AK125657,BC035000,BC093958,BC112005 Q6ZUJ1,Q8WTR2,ABM82132,AAI12006,ABM85315,NP_543152,AAY24197,EAX10949,EAX10950,EAX10951,BAB82499,BAB83498,BAB83499,AAO49450,BAC86234,AAH35000,AAH93958 Hs.132237 GDB:11511173 DUSP17|LMWDSP3|MGC138210|SKRP1|TS-DSP1 protein-coding 1314060 DUSP2 dual specificity phosphatase 2 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. 1580863 17827388,17471234,16288922,15489334,14680939,12826159,12673251,12575935,12477932,7806236,7681221,8107850,7590752,7535770 1844 CH471207,U23853,AF331843,BC007771,CR609480,CR613393,CR614078,DB475178,L11329,NM_004418,AC012307 EAW71384,EAW71385,EAW71386,EAW71387,EAW71388,AAA86112,AAL57044,AAH07771,AAA50779,Q05923,Q53T45,Q8WXV0,NP_004409,AAY24222 Hs.1183 GDB:139200 PAC-1|PAC1 protein-coding 1343692 DUSP21 dual specificity phosphatase 21 DUSP21 is member of the dual-specificity phosphatase (DSP) family (see DUSP1; MIM 600714), which catalyzes dephosphorylation of phosphotyrosine and phosphothreonine residues (Hood et al., 2002 [PubMed 12408986]).[supplied by OMIM] 12408986,15772651,15489334,12477932 63904 NM_022076,AL133545,CH471141,AF143321,AF533018,AY121807,AY156515,BC119755,BC119756,CR457159 NP_071359,CAC10195,EAW59369,AAD33910,AAN59788,AAM82755,AAO17295,AAI19756,AAI19757,CAG33440,Q9H596,Q9Y346 Hs.534478 LMWDSP21|MGC149878 protein-coding 1316166 DUSP22 dual specificity phosphatase 22 1580863 14574404,12477932,12138158,9205128,17384676,17068812,15489334,15252450,15138252,11733513,11717427,11346645 56940 NM_020185,AL365272,CH878723,AB208997,AF165519,AF424702,AK000383,AK074410,AK128760,AY249859,BC009209,BC016844,BC022847,BX648953,CR596349,DQ786251 NP_064570,CAH72534,CAH72535,EAW53895,BAD92234,AAF86649,AAL18850,AAP76376,AAH16844,AAH22847,Q9NRW4,ABM84319,ABM87714 Hs.29106 JKAP|JSP1|MKPX|VHX protein-coding 1319412 DUSP23 dual specificity phosphatase 23 1580863 16710414,15489334,15281913,15201283,15147733,14702039,12477932 54935 NM_017823,AL590560,CH471121,AB164404,AF086553,AK000449,BC001140 NP_060293,CAH71101,EAW52775,BAD12141,BAA91172,AAH01140,Q9BVJ7 Hs.425801 DUSP25|FLJ20442|LDP-3|MOSP|RP11-190A12.1|VHZ protein-coding 1604602 DUSP26 dual specificity phosphatase 26 (putative) 16924234,16581800,15796912,14702039,12477932 78986 NM_024025,AC013603,CH471080,AB103376,AB158288,AB237597,AK055704,AY902194,BC001613,BC003115,BC067804,CR591909,CR604644,CR608742,CR609273,CR616533,CR621684 NP_076930,EAW63392,EAW63393,EAW63394,BAD91015,BAD82942,BAE46506,BAB70991,AAX07132,AAH01613,AAH03115,AAH67804,Q9BV47 Hs.8719 DUSP24|LDP-4|MGC1136|MGC2627|MKP8|NATA1|SKRP3 protein-coding 1603599 DUSP27 dual specificity phosphatase 27 (putative) 17498703,14702039 92235 NM_001080426,AL158837,AF119045,AK094814,BC115387 NP_001073895,CAH69958,AAK02011,AAI15388,Q5VZP5 Hs.632462 protein-coding 1605823 DUSP28 dual specificity phosphatase 28 12477932 285193 NM_001033575,AC124862,CH471063,BC036198,BG656420,BQ777661 NP_001028747,EAW71192,AAH36198,Q4G0W2 Hs.369297 DUSP26|VHP protein-coding 1345861 DUSP3 dual specificity phosphatase 3 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. 1580863 17322878,1281549,17785772,17278098,16604064,16344560,15489334,14702039,12840032,12477932,12447358,11238845,11085983,10224087,8650541,7874108,7829094,7829067,16189514 1845 NM_004090,AC003098,AC055813,CH471178,AK055834,AK129822,AK226170,AL049417,BC002682,BC008286,BC035701,BQ575811,BQ652984,BT019522,BU177084,CR609831,DA075379,DA104250,DA167802,DB171573,L05147 NP_004081,EAW51667,EAW51668,AAH02682,AAH08286,AAH35701,AAV38329,AAA35777,Q5U0J1,Q8IYJ9,Q96HQ4,ABM84048,ABM87398,P51452 Hs.695925 GDB:342110 VHR protein-coding 1348525 DUSP4 dual specificity phosphatase 4 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. 1580863 17322878,7535768,17452331,17145763,16038800,15489334,12477932,11387337,10862698,9205128,8889548,8626452,8545112,16189514 1846 NM_057158,NM_001394,AC084262,CH471080,AL137704,BC002671,BC014565,BG760517,BU742141,CR623380,S80632,U21108,U48807 NP_476499,NP_001385,EAW63481,EAW63482,EAW63483,EAW63484,AAH02671,AAH14565,AAB35870,AAA85119,AAC50452,Q13115,Q13649 Hs.417962 GDB:433893 HVH2|MKP-2|MKP2|TYP protein-coding 1345576 DUSP5 dual specificity phosphatase 5 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. 1580863 7961985,17131384,17078075,15713638,15489334,12944906,12477932,7836374,7829101,7806236 1847 NM_004419,AL355512,CH471066,AB209823,BC062545,BF979291,BI495660,CB991409,CR595355,U15932,U16996 NP_004410,CAI15120,EAW49559,EAW49560,BAD93060,AAH62545,AAA64693,AAB06261,Q16690,Q59EI8,Q5T603 Hs.2128 GDB:385447 DUSP|HVH3 protein-coding 1602255 DUSP5P dual specificity phosphatase 5 pseudogene 14702039 574029 NR_002834,AL713899,AK092260 BAC03838,Q8NAR1 Hs.647777 FLJ34941 pseudo 731297 DUSP6 dual specificity phosphatase 6 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. 728656,1580863 8670865,17322878,18280112,17569113,17131384,16491131,16344560,16189514,15832194,15824892,15632084,15489334,15269220,14702039,14690430,12840032,12759238,12477932,11998972,10048930,9858808,9535927,9373149,9205128,8626780,8125298,15766528 728656 1848 NM_001946,AB013601,AC024909,CH471054,AB013382,AB013602,AB189400,AK091753,AK222882,AU135449,BC003143,BC003562,BC005047,NM_022652,BC037236,BT006895,CR593797,X93920 NP_073143,NP_001937,BAA31968,EAW97422,EAW97423,EAW97424,BAA34369,BAA31969,BAD38886,BAD96602,AAH03143,AAH03562,AAH05047,AAH37236,AAP35541,CAA63813,Q16828,Q53GP9,Q689E8,ABM83416,ABM86627 Hs.298654,Hs.712581 GDB:5903577 MKP3|PYST1 protein-coding 1350752 DUSP7 dual specificity phosphatase 7 728656,1580863 17322878,15489334,15081539,14674243,14603440,14576828,12477932,9788880,9205128,8626780,12907755,8670865 728656 1849 NM_001947,AC115284,CH471055,AF508727,BC019107,BC104880,BC104882,X93921 NP_001938,EAW65184,AAM77606,AAH19107,AAI04881,AAI04883,CAA63814,Q16829 Hs.591664 GDB:5903578 MKP-X|MKPX|PYST2 protein-coding 1315032 DUSP8 dual specificity phosphatase 8 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. 1580863 7561881,15899389,13129832,12477932,9192849,8889548 1850 NM_004420,AP006285,CH471158,AK124467,AK124948,BC038231,BC045110,BU740880,U27193 NP_004411,EAX02451,EAX02452,BAC85857,BAC86004,AAH38231,AAH45110,AAA83151,Q13202,Q6ZV59,Q86SS8 Hs.41688 GDB:6054165 C11orf81|FLJ42476|FLJ42958|HB5|HVH-5|HVH8 protein-coding 1350641 DUSP8P dual specificity phosphatase 8 pseudogene 9192849 1851 XM_291738 GDB:6065013 1345424 DUSP9 dual specificity phosphatase 9 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product shows selectivity for members of the ERK family of MAP kinases, is expressed only in placenta, kidney, and fetal liver, and is localized to the cytoplasm and nucleus. 1302383,1580863 9030581,18006813,15772651,12477932,9286695 1302383 1852 NM_001395,CH471172,AI253132,AK314250,BC034936,BC042166,BC060837,CR622905,U87167,Y08302 NP_001386,EAW72847,EAW72848,EAW72849,BAG36916,AAH34936,AAH42166,AAH60837,AAB47559,CAA69610,P78512,Q6P9C2,Q8N4A4,Q99956 Hs.144879 GDB:6262179 MKP-4|MKP4 protein-coding 1351513 DUSPP dual specificity phosphatase pseudogene 7806236 1853 GDB:385449 1349758 DUT deoxyuridine triphosphatase This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. 1580863 8631816,1325640,17880943,17848562,17081983,16325515,16189514,15629463,15489334,12799180,12477932,12374095,12369926,12096336,11118321,10910061,9228092,9070952,8910358,8805593,8631817,8389461,1091006 1854 AB049113,AK000629,AK291515,BC033645,BC070339,BC110377,BF697257,BG505144,NM_001025248,BG532018,BI257870,CR541720,CR541781,CR593782,CR599160,CR607847,CR613093,L11877,M89913,U31930,NM_001025249,NM_001948,AC023355,AF018429,AF018432,AY935242,CH471082,U90224,U62891,U90223 AAB93867,BAB13724,BAF84204,AAH33645,AAH70339,AAI10378,CAG46521,CAG46580,AAA36801,AAA58444,NP_001020419,NP_001020420,NP_001939,AAB71393,AAB71394,AAX14045,EAW77349,EAW77350,EAW77351,EAW77352,AAB93866,AAC50418,AAC51123,AAB94642,P33316,Q6FHN1,Q6NSA3,ABM82117,ABM85301 Hs.527980 GDB:135164 FLJ20622|dUTPase protein-coding 1348612 DUX1 double homeobox, 1 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM] 1580863 9736770,15709750,11245978 26584 NM_012146,AL732375,AJ001481 NP_036278,CAA04776,O43812,AAI56918 Hs.274469 GDB:10450579 protein-coding 1350894 DUX2 double homeobox, 2 1580863 11245978,9736770 26583 O75505 NM_012147,AF068744 NP_036279,AAC31481,O75505 GDB:10450580 protein-coding 1348066 DUX3 double homeobox, 3 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX3, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM] 11245978 26582 NM_012148,AF133130 AAI52799,NP_036280,AAD33597,AAL02242,Q96PT4 GDB:10450581 protein-coding 1344048 DUX4 double homeobox, 4 This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that contains two homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed and the encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). 1580863 17984056,17668377,17588759,16086272,15709750,11245978,10433963,7739628 22947 NM_033178,AC126281,AF117653,AY044051,D38024 Q14333,Q9UBX2,AAI60122,NP_149418,AAD54067,AAD54068,AAK91509,BAA07227 Hs.553518 GDB:9957760 DUX10 protein-coding 1606352 DUX4C double homeobox 4c 10433963,7987304,7903581,7490072 554045 NM_001023569,NM_001099853,AF146191,AY500824,L32607,U18977 NP_001018863,NP_001093323,AAS15569,AAA83546,AAA87408,Q13060,Q14546,Q6RFH8 protein-coding 1353640 DUX5 double homeobox, 5 The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX5, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM] 15709750,11245978,9736770 26581 NM_012149,AF133131 NP_036281,AAD33598,AAL02243,O43812,Q96PT3,AAI52798 GDB:10450582 protein-coding 1604882 DUXA double homeobox A Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. 17005330 503835 NM_001012729,AC025588 NP_001012747,A6NLW8 Hs.585857 protein-coding 1605468 DUXAP1 double homeobox A pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503630 NG_004841,AC010087 pseudo 1605460 DUXAP10 double homeobox A pseudogene 10 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 17005330,14702039 503639 NG_004838,AL589743,AL929602,AK022914,AK056135 Hs.536395 FLJ12852|FLJ31573 pseudo 1605467 DUXAP2 double homeobox A pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503631 NG_004842,AC011028,AP001208 pseudo 1602610 DUXAP3 double homeobox A pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503632 NR_002220,NG_007339,AL022344 pseudo 1605466 DUXAP4 double homeobox A pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503633 NG_004843,AL390758 pseudo 1605465 DUXAP5 double homeobox A pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503634 NG_004844,AP003396 pseudo 1605464 DUXAP6 double homeobox A pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503635 NG_004845,AC116903 pseudo 1605463 DUXAP7 double homeobox A pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 503636 NG_004846,AL121900 pseudo 1605462 DUXAP8 double homeobox A pseudogene 8 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 17005330 503637 NG_004840,AP000525,AP000526 pseudo 1605461 DUXAP9 double homeobox A pseudogene 9 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DUXA homeobox gene family. 17005330 503638 NG_004839,AL589182 pseudo 733042 DVL1 dishevelled, dsh homolog 1 (Drosophila) DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. 1580898,1580899,734906,1581696,1581694 14750955,8817329,9192851,18347071,18162551,18093802,16621789,16457155,15852005,15456783,15342556,15262978,14702039,14684739,12941796,12883684,12824876,12650946,12556519,12490194,12477932,11818547,11803455,11779461,11742073,11487578,11113207,10806215,10644691,10581192,10428961,10330403,10330181,9482734,9344861,8856345,8644734,8288125,12533515,12805222 1580898,1580899,734906,1581696,1581694 1855 NM_182779,NM_004421,AL139287,CH471183,AB209210,AF006011,AK093189,AK095867,BC017225,BC025292,BC050454,BC111419,BP305846,CR616573,U46461 NP_877580,NP_004412,CAI23185,CAI23187,EAW56224,EAW56225,EAW56226,EAW56227,BAD92447,AAB65242,BAC04089,AAH17225,AAH50454,AAC50682,O14640,P54792,Q59G99,Q5TA34,Q6PJD6,Q86TH3,Q8NA39 Hs.709300 GDB:1230200 DVL|MGC54245 protein-coding 1348473 DVL1L1 dishevelled, dsh homolog 1 (Drosophila)-like 1 1580898,1580863 16604061,10591208,9192851,8817329,8644734,12384700 1580898 8215 U46462 GDB:9958961 DSH|DVL|DVL-22|DVL1|DVL4 protein-coding 1320219 DVL2 dishevelled, dsh homolog 2 (Drosophila) This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. 1580863,2293492 16189514,8887313,9192851,17593335,17529994,16713569,16446366,15489334,15456783,15262978,12958364,12533515,12477932,11779461,11742073,10829020,10806215,10644691,8817329,8662242,12805222 2293492 1856 CR623783,NM_004422,AC120057,CH471108,AF006012,AK026019,BC014844,BG716400,BT009822,CB994349,CR592647 O14641,Q53XM0,NP_004413,EAW90244,EAW90245,AAB65243,AAH14844,AAP88824 Hs.118640 GDB:1230201 protein-coding 1318833 DVL3 dishevelled, dsh homolog 3 (Drosophila) This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. 1580863 16189514,8817329,17030191,15489334,14702039,12477932,10806215,10330181,9344861,9192851,9039502,12805222,15456783 1857 NM_004423,AC131235,CH471052,AF006013,AK093469,AL110278,BC018289,BC032459,D86963,U48252,U49262,U75651 NP_004414,EAW78293,EAW78294,EAW78295,EAW78296,AAB65244,CAB53713,AAH18289,AAH32459,BAA13199,AAC72246,AAB47447,AAB84228,Q13518,Q8WVA8,Q92997,Q9UG07,ABM82542,ABM85734 Hs.388116 GDB:5885881 KIAA0208 protein-coding 1352825 DWS dandy-walker syndrome 1858 GDB:128371 1352824 DYDC1 DPY30 domain containing 1 16189514,15489334,15164054,14702039,12477932 143241 NM_138812,AL359195,CH471142,AK125908,AK292542,BC019250 NP_620167,CAI13699,CAI13701,CAI13702,EAW80394,BAC86339,BAF85231,AAH19250,Q8WWB3 Hs.407751 DPY30D1|FLJ43920|bA36D19.5 protein-coding 1352468 DYDC2 DPY30 domain containing 2 16189514,15489334,15164054,14702039,12477932 84332 NM_032372,AL359195,CH471142,AK093378,BC007374,BC018606 NP_115748,CAI13698,CAI13703,CAI13704,EAW80391,EAW80392,EAW80393,BAC04148,AAH07374,Q96IM9 Hs.512782 MGC16186|bA36D19.6 protein-coding 1350887 DYM dymeclin This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. 1598787,1580863 17456239,15489334,14702039,12554689,12491225,12477932,12362026,12161821,9373149,8125298 1598787 54808 AC016866,AC044840,AC090329,AC100778,CH471096,AK000078,AK074611,AK091256,AK225205,AK291303,AL390156,AY364250,BC001252,NM_017653,BC064394,BK000950,BQ021755,DQ925676 NP_060123,EAW62932,EAW62933,EAW62934,EAW62935,EAW62936,EAW62937,BAA90931,BAC11088,BAF83992,CAB99092,AAQ76809,AAH01252,AAH64394,DAA00396,ABL59903,Q3ZTS8,Q7RTS9,Q9NPU7,Q9NXS9 Hs.162996 DMC|FLJ20071|FLJ90130|SMC protein-coding 1351274 DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 1298890,1580863 17043677,17353931,8227145,8666668,17676955,17567985,17081983,16546759,16260502,15635413,15489334,15324660,15231748,14760703,14702039,12477932,14632200,11163259,11112706,10771482,9373155,9205841,8889548,8812413,8001984,14600259 1298890 1778 NM_001376,AL118558,AY682080,CH471061,AB002323,AB290157,AF234785,AI241115,AI302138,AK023747,AK095415,AL833600,BC021297,BC064521,BM976324,BP871545,BX648670,CR590556,L23958,U53530,U61737 NP_001367,AAT74625,EAW81759,EAW81760,EAW81761,EAW81762,EAW81763,EAW81764,BAA20783,BAG06711,AAF35913,AAH21297,AAH64521,AAA16065,AAB09727,AAC50701,Q14204,Q6P2H7,Q92862,Q9NRC3 Hs.649497 GDB:307437 DHC1|DHC1a|DKFZp686P2245|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|KIAA0325|p22 protein-coding 734329 DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1 1580863 14985359,10049579,16260502,16189514,15121898,14702039,12853948,12690205,12477932,12006665,11500918,11148209,8943288,15992542 1780 NM_004411,AC002452,AC002540,AC022261,AC091779,CH236949,CH471091,AF063228,AF123074,AK091339,BC012504,BC022540,BC032945,BC037854,BC053542 NP_004402,AAB67047,AAB70113,AAS01994,AAS07455,EAL24126,EAW76751,EAW76752,EAW76753,EAW76754,EAW76755,AAC33443,AAD26852,BAC03639,AAH22540,AAH32945,AAH37854,AAH53542,O14576,Q75LS9,Q75MI9,Q7Z6M0,Q8IY52,Q8N542,Q8TBF7 Hs.440364 GDB:683313 DNCI1|DNCIC1 dynein, cytoplasmic, intermediate chain 1 protein-coding 732025 DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 1580863 8522607,17353931,16381901,16260502,16189514,15489336,15489334,15302935,15252450,14702039,12477932,11751894,11230166,11076863,10049579,9373149,8125298 1781 NM_001378,AC064826,AC068039,CH471058,AB209014,AF134477,AF250307,AK024742,AK026574,AK055491,AK075323,AK096579,AK225759,AL137519,AL832832,AY037160,BC015038,BC091498,BC109375,BT007130,BX537412,CR592889,DQ786313,DQ786324,U39575 NP_001369,AAX93177,AAY24133,EAX11199,EAX11200,EAX11201,EAX11202,EAX11203,EAX11204,EAX11205,EAX11206,EAX11207,EAX11208,EAX11209,BAD92251,AAP97254,AAK37426,BAB15502,BAB70932,CAB70785,AAK67638,AAH15038,AAH91498,AAI09376,AAP35794,CAD97654,AAA89166,Q13409,Q32LY9,Q53S84,Q53SA6,Q59GU5,Q5BJF8,Q7Z4X1,Q9H5W7,CAL38635 Hs.546250 GDB:683314 DNCI2|FLJ21089|FLJ90842|IC2|MGC104199|MGC111094|MGC9324 dynein, cytoplasmic, intermediate polypeptide 2 protein-coding 1606006 DYNC1LI1 dynein, cytoplasmic 1, light intermediate chain 1 17081983,16565220,16260502,15345747,15302935,14702039,11243854,10893222,9373149,8125298 51143 CR623843,NM_016141,AC104306,CH471055,AF078849,AK001081,AK074348,AK222573,AK222653,BC131620,BX649189,CR595277,CR619992 Q6MZE7,Q9Y6G9,NP_057225,EAW64431,EAW64432,EAW64433,AAD44481,BAD96293,BAD96373,AAI31621,CAE46207 Hs.529495 GDB:11508375 DNCLI1|FLJ10219 protein-coding 1344148 DYNC1LI2 dynein, cytoplasmic 1, light intermediate chain 2 Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM] 1580863 7738094,17081983,16964243,16260502,15489334,15302935,14702039,12477932,12417987 1783 NM_006141,AC018557,AC044802,CH471092,AF035812,AK024863,AK095237,AK291766,AL708642,BC010928,BC022934,BC025959,BC036633,BC069056,BM805417,BX648863 NP_006132,EAW83039,EAW83040,AAB88513,BAF84455,AAH25959,CAH56157,O43237,Q63HJ8 Hs.369068 GDB:683315 DNCLI2|LIC2 dynein, cytoplasmic, light intermediate polypeptide 2 protein-coding 1606227 DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 16320026,14702039,12477932,12056414,9763680,9373155,9325061,8832411,8666668,8186465,12432068,11907264 79659 NM_001080463,AP000817,AP001486,AP002829,AP002961,AP003382,AP003461,AB082528,AB231765,AB231766,AB290167,AF288405,AK021818,AK095579,AK125524,AK131453,BC037496,BC038344,BX538093,BX649161,U20552,U53531,Z83800 BAG06721,NP_001073932,BAC02706,BAE46899,BAE17138,BAB13905,BAC04578,BAC86194,BAD18598,AAH37496,CAD98012,AAB50020,AAB09728,CAB06054,Q49AI6,Q8NCM8 Hs.503721 GDB:683312 DHC1b|DHC2|DNCH2|DYH1B|FLJ11756|hdhc11 protein-coding 1602120 DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1 12477932,12401177,11907264,10810093,9373149,8125298,12432068 51626 NM_016008,AY083346,BC006969,BC016324,BC035126,BC040558,BC058823,BG716986,BX493698,CR600166,CR622142,NM_001012665,NM_015522,AC011242,CH471053,AF151818,AK074206,AK223432,AL050006 AAL99216,AAH06969,AAH16324,AAH40558,AAH58823,Q8TCX1,NP_057092,NP_001012683,NP_056337,AAY14702,EAX00289,EAX00290,EAX00291,AAD34055,BAD97152,CAB43233 Hs.371597 CGI-60|D2LIC|DKFZP564A033|LIC3 protein-coding 731010 DYNLL1 dynein, light chain, LC8-type 1 Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. 633683 17353931,8628263,14764673,12591950,18084006,17169380,17012239,16781079,16684779,16341674,16260502,16169070,16098226,15891768,15611139,15560738,15504720,15193260,14760703,14607843,14561217,12766061,12761050,12477932,12097491,11978406,11243854,11178896,11157096,11148209,11069771,10844022,10683380,10426949,10198631,9837926,9808772,9808041,9372968,8864115,7829101,11122378,11024152,15117959 633683 8655 NM_001037494,NM_001037495,NM_003746,AC063943,AL021546,CH471054,BC100289,BC104244,BC104245,BG474448,BG705617,BI491360,BM817665,BU598428,CB992195,CD678447,CR407672,CR542128,CR590506,CR607733,CR609172,CR619359,U32944 NP_001032583,NP_001032584,NP_003737,EAW98195,EAW98196,EAW98197,AAI00290,AAI04245,AAI04246,CAG28600,CAG46925,AAB04149,P63167,Q6FGH9 Hs.5120 DLC1|DLC8|DNCL1|DNCLC1|LC8|LC8a|MGC126137|MGC126138|PIN|hdlc1 dynein, cytoplasmic, light polypeptide 1 protein-coding 730979 DYNLL2 dynein, light chain, LC8-type 2 12591950,16260502,16189514,15489334,14561217,12477932,12097491,11546872,10844022,11122378 140735 NM_080677,AC015813,CH471109,CS185623,AF086304,AF112997,BC010744 NP_542408,EAW94483,EAW94484,CAJ42804,AAP97230,AAH10744,Q96FJ2 Hs.591176 DNCL1B|Dlc2|MGC17810 dynein light chain 2 protein-coding 734301 DYNLRB1 dynein, light chain, roadblock-type 1 This gene is a member of the roadblock dynein light chain family and encodes a cytoplasmic protein that is capable of binding intermediate chain proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. 11750132,12077152,18044744,17556076,16970917,16950395,16778097,16260502,16189514,15489334,15231747,12665801,12629046,12477932,11780052,11042152,14733918 83658 NM_014183,AL109923,AL136173,CH471077,AF132750,AF161511,AF165516,AF178431,AK026864,AY026513,BC002481,BC007223,BG110161,BU163605,CR596463,CR600460,CR624938,CR626029 NP_054902,CAI23308,CAI23309,EAW76267,AAL75951,AAF29126,AAF86646,AAK95342,AAK18712,AAH02481,Q5TC71,Q9NP97 Hs.593920 GDB:11508755 BITH|BLP|DNCL2A|DNLC2A|ROBLD1 dynein-associated protein rkm23 protein-coding 1315823 DYNLRB2 dynein, light chain, roadblock-type 2 1580863 11750132,12077152,16260502,12665801,12477932 83657 NM_130897,AC108097,CH471114,AF125108,BC035232,BC054892 NP_570967,EAW95568,AAL75945,AAH54892,Q7Z4M1,Q8TF09 Hs.98849 GDB:11508754 DNCL2B|DNLC2B|MGC62033|ROBLD2 protein-coding 732244 DYNLT1 dynein, light chain, Tctex-type 1 Cytoplasmic dynein is the major motor protein complex responsible for minus-end, microtubule-based motile processes. Each dynein complex consists of 2 heavy chains that have ATPase and motor activities, plus a group of accessory polypeptides. TCTEX1 is a dynein light chain involved in cargo binding (Chuang et al., 2005 [PubMed 15992542]).[supplied by OMIM] 15503857,16956385,16260502,15992542,15489334,15194795,14583445,12477932,12049630,12009301,11751937,10644691,9804756,8943288,8646886,5503857,15117959 6993 NM_006519,AL589931,AL591025,CH471051,AK026669,BC029412,BC105588,CR456931,CR604424,D50663,U56255 NP_006510,CAI95303,CAH70176,EAW47655,EAW47656,EAW47657,EAW47658,EAW47659,AAH29412,AAI05589,CAG33212,BAA09317,AAB03318,P63172,Q5VTU4,ABM83532,ABM83533,ABM86772,ABM86773 Hs.445999 GDB:1327285 CW-1|MGC111571|TCTEL1|tctex-1 t-complex testis expressed 1 protein-coding 1350586 DYNLT3 dynein, light chain, Tctex-type 3 1580863 17676955,16189514,16079286,15489334,15117959,12477932,12009301,11751937,9692886,8004092 6990 NM_006520,AL121578,CH471141,BC000968,CR450320,CR542213,CR591625,CR615178,CR622725,U02556 NP_006511,EAW59452,AAH00968,CAG29316,CAG47009,AAA57444,P51808,Q6ICS3 Hs.446392 GDB:434306 RP3|TCTE1L|TCTEX1L protein-coding 737237 DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. 625468,1580863,1300048 9748265,8769099,18366763,18231969,18005339,17906291,17536841,17294446,17229891,17192257,17145134,17135279,16919501,16733250,16512921,16242644,15917294,15694837,15592455,15369779,15324660,15126119,15068246,15068245,14623875,14593110,14500717,12964950,12799418,12576186,12477932,12138125,11311120,10830953,10329007,9784410,9503019,9503011,9140392,9048932,9037601,8975710,8872470,8274451,15778465,9284911 625468 1859 NM_101395,NM_130436,NM_130437,NM_130438,NM_001396,AP001413,AP001421,AP001428,AP001437,CH471079,AB015282,AB015283,AB015284,AF108830,AJ001870,AJ001871,BC030515,BC045802,BC065184,D85759,D86550,U52373,U58496,Z25423 NP_567824,NP_569120,NP_569121,NP_569122,NP_001387,EAX09702,EAX09703,EAX09704,EAX09705,EAX09706,EAX09707,EAX09708,BAA33975,BAA33976,BAA33977,AAD31169,CAA05059,CAA05060,BAA12866,BAA13110,AAB18639,AAC50939,CAA80910,O60770,O94789,Q13627,Q15446,Q76N25,AAI56310 Hs.368240 GDB:1297921 DYRK|DYRK1|HP86|MNB|MNBH protein-coding 1353109 DYRK1AIP1 DYRK1A interacting protein 1 93980 GDB:11508570 1350419 DYRK1AIP2 DYRK1A interacting protein 2 93981 GDB:11508590 1347661 DYRK1AIP3 DYRK1A interacting protein 3 93982 GDB:11508571 1316288 DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B DYRK1B is a member of the DYRK family of protein kinases. DYRK1B contains a bipartite nuclear localization signal and is found mainly in muscle and testis. The protein is proposed to be involved in the regulation of nuclear functions. Three isoforms of DYRK1B have been identified differing in the presence of two alternatively spliced exons within the catalytic domain. 1580863 16618736,15851482,15546868,15489334,15144186,15057824,14500717,12477932,12384504,10910078,16189514,16845176,11980910,14593110,9918863,17046823 9149 NM_004714,NM_006483,NM_006484,AC005393,CH471126,AF205861,AK074971,BC009688,BC018751,BC025291,CR611407,CR620266,Y17999 NP_004705,NP_006474,NP_006475,AAC28914,EAW56916,EAW56917,EAW56918,EAW56919,EAW56920,EAW56921,EAW56922,EAW56923,EAW56924,AAF15893,AAH18751,AAH25291,CAA76989,CAA76990,CAA76991,Q9Y463,ABM83462,ABM86673 Hs.130988 GDB:9955113 MIRK protein-coding 1323814 DYRK2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development. The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues. DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro. Two isoforms of DYRK2 have been isolated. The predominant isoform, isoform 1, lacks a 5' terminal insert. 1580863 11311121,9748265,17349958,16344560,16189514,15489334,15146197,12588975,12477932,14593110 8445 NM_006482,NM_003583,AC078777,CH471054,AK024870,AK025018,BC005809,BC006375,CN303286,CR612226,DA768075,DB461362,Y09216,Y13493 NP_006473,NP_003574,EAW97176,EAW97177,AAH05809,AAH06375,CAA70418,CAA73885,Q92630 Hs.173135 GDB:9955167 FLJ21217|FLJ21365 protein-coding 1322106 DYRK3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 10779429,16344560,15607427,15592455,12477932,12356771,9845759,9748265 8444 NM_001004023,NM_003582,AL591846,CH471100,AF186773,AF186774,AF327561,AK291189,AU126055,AY590695,BC015501,BC037269,CR609403,Y12735 NP_001004023,NP_003573,CAI13539,CAI13540,CAI13541,EAW93533,EAW93534,EAW93535,AAG17028,AAG17029,AAK16443,BAF83878,AAT06103,AAH15501,AAH37269,CAA73266,O43781,Q4G0U0,Q5SY34 Hs.164267 GDB:9955165 DYRK5|RED|REDK|hYAK3-2 protein-coding 1351667 DYRK4 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 Dual-specificity kinases, such as DYRK4, play key roles in cell proliferation, survival, and development (Zhang et al., 2005 [PubMed 15607427]).[supplied by OMIM] 1580863 17292540,15607427,15489334,12477932,11062477,9748265 8798 NM_003845,AC005832,CH471116,AF263541,AK292322,BC031244,CR609016,CR615549,Y09305 NP_003836,EAW88841,EAW88842,AAF91393,BAF85011,AAH31244,CAA70488,Q9NR20,ABM82446,ABM85636 Hs.439530 GDB:9956982 protein-coding 1322255 DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. 1598789,1580863 9731526,10496277,18306167,18294055,18276788,17897828,17868276,17828519,17825554,17698709,17554076,17363620,17287450,16996541,16934466,16896923,16797397,16608842,16606933,16100712,16087766,16010686,15835269,15827562,15535137,15477515,15469449,15318348,15221058,14749532,14678801,14560310,14512171,14506716,14506282,12836053,12664320,11532985,11468312,11198284,10196377,10196375,9731527,8320700,8012357,7723968 1598789 8291 AC010147,AC104084,AJ007973,AJ566204,CH471053,AF075575,AK074104,AK074442,AK074649,BC038246,DQ267935,EU515155,EU515156,EU515157,NM_003494,EU515158,EU515159,EU515160,EU515162,EU515161,EU515163,EU515164,EU515165,EU515166 NP_003485,AAY14954,AAY24199,CAA07800,CAD92859,EAW99763,EAW99764,EAW99765,AAC63519,BAB84930,BAB85086,ABB89736,ACB12752,ACB12753,ACB12754,ACB12755,ACB12756,ACB12757,ACB12758,ACB12759,ACB12760,ACB12761,ACB12762,ACB12763,A0FK00,O75923,Q09EX5,Q0H395,Q53QY3,Q53TD2,Q7Z6P1,Q8TCI0,Q8TEL8 Hs.252180 GDB:340831 FER1L1|FLJ00175|FLJ90168|LGMD2B protein-coding 1346366 DYSFIP1 dysferlin interacting protein 1 16862423,16344560,15489334,14702039,12477932 116729 NM_001007533,CH471099,AA722724,AF434846,AK096888,BC093707,BC112094,BI826571,BX281734,DA894509 NP_001007534,EAW89686,AAO67357,AAH93707,AAI12095,Q86WC6 Hs.454720 GDB:11500733 MGC138299 dysferlin interacting protein 1 (toonin) protein-coding 1344576 DYT12 dystonia 12 53589 GDB:10013750 1347826 DYT13 dystonia 13, torsion 93983 GDB:10013751 1345621 DYT14 dystonia 14 12084887 93984 GDB:11508700 1348928 DYT15 dystonia 15, myoclonic 12391345 317714 1345446 DYT2 dystonia 2, torsion (autosomal recessive) 1862 GDB:118788 1347969 DYT3 dystonia 3 (with Parkinsonism) 1518853 1863 GDB:118789 1350596 DYT4 dystonia 4, torsion (autosomal dominant) 8432555 1864 GDB:433751 1352121 DYT6 dystonia 6, torsion (autosomal dominant) 9382482 1865 GDB:1313689 1343573 DYT7 dystonia 7, torsion (autosomal dominant) 8894706 1866 GDB:4590632 1606642 DYTN dystrotelin 17233888 391475 NM_001093730,AC010731,DQ516347 NP_001087199,ABF55377,A2CJ06 Hs.640667 protein-coding 1351317 DYX1 dyslexia susceptibility 1 3652490,8981944 1867 GDB:1391796 1343869 DYX1C1 dyslexia susceptibility 1 candidate 1 1580863 17450541,17309662,15702132,15520411,15489334,15477871,15470369,15249932,14702039,12954984,12477932,8889548 161582 NM_001033560,NM_001033559,NM_130810,AC013355,AC022083,CH471082,AF337549,AK095201,BC017392,BC062564,BM971229 NP_001028732,NP_001028731,NP_570722,EAW77490,EAW77491,AAL73230,BAC04498,AAH62564,Q8N1S6,Q8WXU2 Hs.126403 DYX1|DYXC1|EKN1|FLJ37882|MGC70618|RD protein-coding 1346611 DYX2 dyslexia susceptibility 2 7939663 1868 GDB:437584 1344027 DYX3 dyslexia susceptibility 3 10507721 11192 GDB:9953275 1351758 DYX4 dyslexia susceptibility 4 11496366 26300 GDB:10795379 1349139 DYX5 dyslexia susceptibility 5 11584043 171089 GDB:11505974 1351922 DYX6 dyslexia susceptibility 6 11743577 266691 GDB:11510778 1348487 DYX7 dyslexia susceptibility 7 14755455 266726 GDB:11510809 1350351 DYX8 dyslexia susceptibility 8 11424982,15108193 406874 1317042 DZIP1 DAZ interacting protein 1 15081113,16344560,15489334,14702039,12511597,12477932,11991713,10231032 22873 BC041804,BF981831,CR606837,CR621496,DA782750,BC037327,NM_014934,NM_198968,AL139376,CH471085,AB023213,AF272347,AF272348,AF339791,AK092363,AK094042,AK094990,AL049931,BC011450,BC018744 AAH41804,Q05D25,Q5W078,Q5W079,Q5W080,Q86YF9,NP_055749,NP_945319,CAH71600,CAH71601,EAX08956,EAX08957,EAX08958,BAA76840,AAL36978,AAL36979,CAB43211,AAH18744 Hs.656580 DZIP|DZIPt1|KIAA0996|RP11-23E3.3 protein-coding 1344571 DZIP1L DAZ interacting protein 1-like 737633 14702039,12477932 737633 199221 NM_173543,AC023049,CH471052,AK057406,BC033308 NP_775814,EAW79085,EAW79086,EAW79087,EAW79088,EAW79089,EAW79090,BAB71474,AAH33308,Q8IYY4 Hs.351403 DZIP2|FLJ32844 protein-coding 1602727 DZIP3 DAZ interacting protein 3, zinc finger 12538761,18206970,16713569,15489334,14702039,12511597,12477932,9734811 9666 NM_014648,AC092185,AC092693,CH471052,CQ834634,AB014575,AF279370,AK023138,AK023389,AY227651,AY227652,AY227654,AY495710,BC012631,BC039018,BC056674,BC063882 AAK69484,NP_055463,EAW79721,EAW79722,CAH05532,BAA31650,AAO72967,AAO72968,AAO72970,AAS75122,AAH39018,AAH56674,AAH63882,Q5MY58,Q86Y13 Hs.409210 FLJ13327|KIAA0675|UURF2|hRUL138 protein-coding 1346587 E11S ECHO virus (serotypes 4, 6, 11, 19) sensitivity 1878 GDB:119101 730923 E2F1 E2F transcription factor 1 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. 1580863,1300306,1300304,1300305,1300307 11418595,11486038,10199402,15731768,8653790,9190208,18381203,18366763,18358829,18328430,18302937,18235226,18172323,18172256,18167336,18056168,18039672,17913805,17910524,17908821,17881156,17825503,17786044,17707233,17704056,17690688,17686574,17641417,17638884,17638866,17630509,17597480,17570542,17566113,17550982,17535433,17471234,17471231,15024084,14997382,14739777,14681231,14645238,14637159,14593116,14576826,14576433,14576432,14555651,12965081,12947120,12947005,12809602,12789260,12766778,12717439,12697828,12679318,12674510,12646190,12629508,12607600,12598654,12588705,12532331,12511608,12501191,12477932,12450794,12389032,12149244,12118073,12095638,12082609,12077144,12065845,12036888,12032846,12032840,11939591,11884602,11780052,11763345,11759817,11739724,11733001,11583618,11559366,11459832,11331592,11314038,11162393,11151061,11042687,11034215,11034214,11032021,11005809,10965846,10888886,10850422,10725332,10619024,17452331,17360686,17341621,17328667,17178887,17135249,17127213,17081983,17062573,17050006,17012841,17011204,16984923,16972274,16918502,16916939,16912047,16892051,16775429,16717102,16652153,16620391,16596252,16582589,16580749,16512785,16510138,16481740,16476732,16434972,16407216,16394138,16374512,16299810,16264179,16211008,16188218,16186801,16170383,16114066,16107498,16052233,16037820,15944709,15917652,15735762,15716352,15713665,15647840,15574337,15517914,15517862,15489334,15485814,15481443,15467735,15381253,15371422,15361834,15313206,15306814,15279795,15187102,15169882,15140942,15123636,15121871,15118916,15073182,15044096,10547281,10523633,10428966,10321733,10022926,9780002,9708738,9689056,9525916,9501179,9422723,9418871,9368098,9368006,9244350,9199321,9181131,9125176,8964493,8932363,8896460,8846921,8816502,8755520,8618861,8413249,8405995,8170954,8087847,8033208,7969176,7958856,7958836,7838523,7474112,1638635,1638634,1448092,1411535,1388726,10734134,12397079,11470869,14500729,12065415,12748276,14638867,15949438,15674331,10766737,8246996,15619620,15271987,7892279,8816798,10597240,10559858,8816797,11799066,12411495,15706352,11799067,9632788,8346196 1300306,1300304,1300305,1300307 1869 NM_005225,AF516106,AL121906,CH471077,S74230,U47675,U47677,AF086380,BC005098,BC050369,BC058902,CR593152,CR594055,CR594440,CR599810,M96577,S49592 NP_005216,AAM47604,CAC08486,EAW76299,EAW76300,AAD14150,AAC50719,AAH05098,AAH50369,AAH58902,AAA35782,AAB24289,Q01094,Q9BSD8 Hs.654393 GDB:134661 E2F-1|RBBP3|RBP3 protein-coding 1348982 E2F2 E2F transcription factor 2 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. 1580863 8657141,8246995,8246996,9190208,17916908,17588684,17341621,17135249,16710414,15716352,15489334,14702039,12566389,12502741,12477932,12411495,12145330,11733001,11719808,10965846,10727462,9694791,9688145,9144196,8846921,8832394,8755520,8657142,7739537,12748276,16189514,15949438,15861133,10766737,15706352,15574337,11799066,15735762 1870 NM_004091,AF518877,AL021154,CH471134,AF086395,AK092799,BC007609,BC053676,BT019523,L22846 NP_004082,AAM54044,CAA15949,EAW95055,EAW95056,EAW95057,EAW95058,AAH07609,AAH53676,AAV38330,AAA16890,Q14209,Q5U0J0,Q96ID7 Hs.194333 GDB:270248 E2F-2 protein-coding 1320122 E2F3 E2F transcription factor 3 The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F2, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner. 1580863 17438371,8246996,9190208,18235226,18037967,17925491,17701752,17135249,16938365,16909110,16249186,16180235,16007192,15716352,15122326,14716298,14574404,12748276,12477932,12411495,11980909,11733001,10918599,10779352,10733529,9688145,9199321,9144196,8846921,8832394,8755520,8657141,7739537,7584044,10766737,15706352,15271987,15574337,11799066,15735762,11799067 1871 NM_001949,AF547386,AL132775,AL136303,CH471087,BC016847,BC099908,BC114554,CR597993,CR749285,D38550,W38841,Y10479 NP_001940,AAN17846,CAI21471,CAC28598,EAW55421,EAW55422,EAW55423,AAH16847,AAH99908,AAI14555,CAH18140,BAA07553,CAA71504,O00716,Q24JQ3,Q499G5,Q68DT0,Q96AR0,AAI56368 Hs.269408,Hs.703174 GDB:270252 DKFZp686C18211|E2F-3|KIAA0075|MGC104598 protein-coding 1345418 E2F3P1 E2F transcription factor 3 pseudogene 1 8246996 1872 NG_005634,AC015911 GDB:270262 pseudo 1345561 E2F3P2 E2F transcription factor 3 pseudogene 2 8246996 1873 GDB:270265 1323111 E2F4 E2F transcription factor 4, p107/p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. 1580863 9271426,9244350,9144196,9074408,8657117,8643455,7958925,7958924,7892279,9891079,12748276,11959842,15861133,15782160,10766737,11799067,11799066,12411495,15706352,15271987,8816797,15735762,15525513,11418595,14532282,9190208,17908821,17656449,17531812,17507799,17121828,17043659,17001309,16135806,15964557,15489334,15231644,12860972,12789259,12757710,12477932,12198120,12150994,12148576,12110166,12096339,12055184,12006580,11759817,11602203,11573202,11158323,11025371,11012981,11005809,10867026,10797289,10679953,10540350,10208422,10090723,10082561,9724731,9688145 1874 NM_001950,AC040160,AF250378,AF527540,CH471092,BC021050,BC031071,BC033180,BU857680,CR609179,CR614512,S75174,U15641,X86096 NP_001941,AAF65226,AAM77918,EAW83094,EAW83095,EAW83096,AAH33180,AAB32597,AAC50119,CAA60050,Q16254,ABM83729 Hs.108371 GDB:450301 E2F-4 protein-coding 731057 E2F5 E2F transcription factor 5, p130-binding The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. 1358139,1581726,1580863,737812 7760804,7892279,9190208,18385796,16172982,15342556,15146197,12860972,12789259,11756542,11319226,11030352,10783242,9464260,9144196,8589754,7958925,7958924,15271987,15735762,12150994,12089160 1581726,737812 1875 NM_001951,NM_001083588,NM_001083589,AC011773,AY162833,CH471068,AB209185,AI740797,BM919591,BP224536,CN312917,CR599340,CR605094,DB534924,U15642,U31556,X86097,Z78409 NP_001942,NP_001077057,NP_001077058,AAN46737,EAW87122,EAW87123,BAD92422,AAC50120,AAB00179,CAA60051,CAB01634,Q15329,Q59GC4,AAI56211 Hs.445758 GDB:578742 E2F-5 protein-coding 1605732 E2F6 E2F transcription factor 6 This gene encodes a member of the E2F transcription factor protein family. E2F family members play a crucial role in control of the cell cycle and of the action of tumor suppressor proteins. They are also a target of the transforming proteins of small DNA tumor viruses. Many E2F proteins contain several evolutionarily conserved domains: a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. The encoded protein of this gene is atypical because it lacks the transactivation and tumor suppressor protein association domains. It contains a modular suppression domain and is an inhibitor of E2F-dependent transcription. The protein is part of a multimeric protein complex that contains a histone methyltransferase and the transcription factors Mga and Max. Multiple transcript variants have been reported for this gene, but it has not been clearly demonstrated that they encode valid isoforms. 9501179,17908821,17600109,17001316,16344560,16107498,15815621,15574595,15536069,15489334,15474455,15081404,14702039,12909625,12477932,12004135,11171983,9704927,9689056,9373149,8125298,16189514 1876 NR_003095,NM_198256,NR_003093,NR_003092,NR_003094,AJ493061,AY083997,AY551345,CH471053,AF041381,AF059292,AF088059,AK096197,AK223159,AK223407,AK290413,AU132447,AU142999,AY083996,AY551346,AY551347,AY551348,AY551349,AY551350,AC099344,AY551351,BC008348,BC062610,BC107740,BI772069,BQ447956,BU076470,CR603243,CR607422,CR621731 NP_937987,AAY14826,CAD37950,CAD37951,CAD37952,AAM10784,AAM10785,AAT02635,EAX00931,EAX00932,EAX00933,EAX00934,EAX00935,EAX00936,AAC14694,AAC31426,BAD96879,BAD97127,BAF83102,AAM10783,AAT02636,AAT02637,AAT02638,AAT02639,AAT02640,AAT02641,AAH08348,AAI07741,O75461,Q2Z196,Q2Z197,Q53F82,Q53FX2,Q53YM3,Q6Q9Z5,Q6Q9Z6,Q6Q9Z7 Hs.603093 GDB:9836820 E2F-6|MGC111545 protein-coding 1321054 E2F7 E2F transcription factor 7 E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM] 15133492,18202719,17353931,17200349,16344560,15897886,14702039,14633988,12893818,12477932 144455 NM_203394,AC025161,AC079030,CH471054,AI380315,AK023043,AK096316,AK097677,BC016658,BC017481,CR606651,DB159890 NP_976328,EAW97338,EAW97339,EAW97340,AAH16658,Q96AV8 Hs.416375 FLJ12981 protein-coding 1605946 E2F8 E2F transcription factor 8 E2F transcription factors, such as E2F8, are essential for orchestrating expression of genes required for cell cycle progression and proliferation (Christensen et al., 2005 [PubMed 16179649]).[supplied by OMIM] 18202719,16179649,15897886,15722552,14702039,12477932,9373149,8125298 79733 NM_024680,AC009652,CH471064,AB231781,AK026964,AK055206,AK225338,AK292688,BC028244,BC090877,BC108700,BC126400,BC126402,BU164108,BX504614,CB959621,CR605237 NP_078956,EAW68354,BAE46901,BAB15605,BAF85377,AAH28244,AAH90877,AAI08701,AAI26401,AAI26403,A0AVK6 Hs.523526 FLJ23311 protein-coding 1348626 E4F1 E4F transcription factor 1 The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. 1580863 14729613,9121437,10869426,17557114,17110336,16652157,15579445,12477932,12446718,9763670,9530632,9373149,8828041,8125298,10608806,16189514,10644996 1877 NM_004424,AC009065,CH471112,AB209008,AK225132,AK290329,BC001713,BC014068,BC080524,BE245277,BF312518,U87269 NP_004415,EAW85531,EAW85532,EAW85533,BAD92245,BAF83018,AAH01713,AAH80524,AAD09139,Q59GV1,Q66K89,Q9BV18 Hs.513268,Hs.615283 GDB:1211162 E4F|MGC99614 protein-coding 1320738 EAF1 ELL associated factor 1 17395368,17081983,16114057,16006523,15489334,14702039,12686606,12477932,11418481 85403 NM_033083,AC027125,CH471055,AA626023,AF272973,AK023217,AL698790,AW292089,BC029294,BC035167,BC041329,BI459315,BM836669,BM918150,BQ064584 NP_149074,EAW64234,AAK58687,AAH41329,Q96JC9 Hs.474479 protein-coding 736664 EAF2 ELL associated factor 2 634486,1580863 11042152,17395368,16114057,16006523,15489334,12907652,12761297,12477932,12446457 634486 55840 NM_018456,AC072031,AC119736,CH471052,AF217516,AF517829,AY049020,BC014209,BC014589,BU941228 NP_060926,EAW79497,EAW79498,AAF67627,AAO63811,AAL12223,AAH14209,Q96CJ1,ABM83574,ABM86813 Hs.477325 BM040|TRAITS|U19 protein-coding 1320061 EAPP E2F-associated phosphoprotein This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. 17081983,16713569,16189514,15820313,15716352,15489334,14702039,12477932,11042152,9373149,8125298 55837 NM_018453,AL445363,CH471078,AF217512,AK000585,AK225467,AK225477,AK225991,AY157300,AY157301,AY869694,BC001245,CD702290,CR609381 NP_060923,EAW65920,EAW65921,EAW65922,AAF67623,BAA91271,AAO17041,AAO17042,AAX63200,AAH01245,Q56P03 Hs.433269 BM036|C14orf11|FLJ20578|MGC4957 protein-coding 1604541 EARS2 glutamyl-tRNA synthetase 2, mitochondrial (putative) 16344560,15779907,14702039,12477932,11853319,10493829 124454 NM_001083614,NR_003501,AC002400,CH471145,AB075850,AF088053,AK095998,AL832489,BC020592,BC040013,BX648129,CA306283,CR613598,DA692403 NP_001077083,AAC05815,EAW55821,EAW55822,EAW55823,EAW55824,EAW55825,BAB85556,CAI46121,AAH40013,O14563,Q5JPH6,Q86YH3 Hs.696113 KIAA1970|MSE1 protein-coding 1316400 EBAG9 estrogen receptor binding site associated, antigen, 9 This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor which binds to the estrogen-responsive element (ERE) found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Two transcript variants differing in the 5' UTR, but encoding the same protein, have been identified for this gene. 1580863,2289846,2289847,2289850,2289852,2289854,2289856,2289857,2289858,2289849,2289851 15254686,15164121,15144186,14981953,14534714,14514780,12888828,12845666,12774924,12672804,12477932,12138241,12054692,11992411,11743045,11705872,11435298,11298137,10873660,9418891,8889548,15808510,10426319,18032910,17981616,17849467,17845206,17825484,17717421,17604121,17516841,17466050,17187008,17187007,17081983,16907986,16595162,16273616,16211275,16175077,16113565,16112176,16012715,15904507,15867365,15813909,15635093,15592455,15489334,15460847 2289846,2289847,2289850,2289852,2289854,2289856,2289857,2289858,2289849,2289851 9166 NM_198120,NM_004215,AC079061,AF264617,AP000427,CH471060,AB007619,AF006265,AK290651,AL515533,AY515724,AY653072,BC005249,BC017729,BC022506,BG427211,BG707115,BI194881,CA450508,CD108096,CR456984,CR593368,CR613560,CR621221 NP_936056,NP_004206,EAW91932,EAW91933,EAW91934,BAA22572,AAB61617,BAF83340,AAR97974,AAU85838,AAH05249,AAH17729,AAH22506,CAG33265,Q6R3F1,ABM82390,ABM85568,O00559,Q5Y8C7 Hs.409368 GDB:9955152 EB9|PDAF|RCAS1 protein-coding 1349579 EBF1 early B-cell factor 1 1580863 14594818,17101802,16344560,16255771,16106032,15920012,15489334,14702039,14630787,12748286,12477932,12446759,12077253,11994467,10942392,9151733,8497258,8491377,8321284,8012110,7796816 1879 NM_024007,AC008442,AC008640,AC134043,AC136424,AC140770,CH471062,AF208502,AK096708,AK123757,AK289712,BC019927,BC038805,BC041178,BM802733,DB231236 NP_076870,EAW61580,EAW61581,EAW61582,AAF19643,BAF82401,AAH38805,AAH41178,Q9UH73,ABZ92384 Hs.573143,Hs.657753 GDB:687016 COE1|EBF|FLJ39389|FLJ41763|O/E-1|OLF1 early b-cell factor protein-coding 1321920 EBF2 early B-cell factor 2 EBF2 belongs to the conserved Olf/EBF family (see MIM 164343) of helix-loop-helix transcription factors (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM] 1580863 16421571,16344560,15489334,14702039,12477932,12139918,9151732 64641 BC074794,BC113478,BC113504,NM_022659,AC023566,AC090103,AK001144,AK021562,AL701879,AU120738,AY700779,BC069665,BC069726,BC069747,BC069768 AAH74794,AAI13479,AAI13505,Q66VZ3,Q9HAK2,AAI48639,NP_073150,BAB13843,AAU10086,AAH69665,AAH69726,AAH69747,AAH69768 Hs.710674 GDB:11510033 COE2|EBF-2|FLJ11500|O/E-3|OE-3 protein-coding 1346410 EBF3 early B-cell factor 3 634750,1580863 17018599,15164054,14702039,12477932,12355068 634750 253738 NM_001005463,AL354950,CH471066,AK055710,AK097335,AK098025,AL713797,AL832828,BC126130,BC130479 NP_001005463,CAI12791,CAI12792,CAI12793,EAW49159,EAW49160,EAW49161,CAH56225,AAI26131,AAI30480,A0AUY1,Q658Y5,Q9H4W6 Hs.699395 GDB:11511175 COE3|O/E-2 protein-coding 1625812 EBF4 early B-cell factor 4 EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM] 12477932,12139918,11780052,10718198 57593 XM_001713721,XM_001717843,XM_001713722,NM_001110514,AL035460,AB037863,BC010557,BC019106,BC037555,BC054347,BG750986 XP_001713773,XP_001717895,XP_001713774,NP_001103984,CAB82244,BAA92680,AAH19106,AAH54347,Q7Z5T1,Q8WUY0,Q9BQW3 Hs.471955 COE4|KIAA1442|O/E-4|RP5-860F19.3 protein-coding 1346200 EBI2 Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor) This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. 1580863 8383238,16540462,15489334,12477932,9373149,8125298 1880 NM_004951,AL160155,CH471085,AI740732,AK223390,AK292091,AW402166,AW574697,AW575283,BC020752,CR592718,CR597919,CR609579,CR614065,L08177 NP_004942,CAI14308,EAX09018,EAX09019,BAD97110,BAF84780,AAH20752,AAA35924,P32249,Q53F99,Q5JUH7,ABM82294,ABM85474 Hs.784 GDB:342113 protein-coding 1353395 EBI3 Epstein-Barr virus induced gene 3 This gene was identified by the induction of its expression in B lymphocytes by Epstein-Barr virus infection. The protein encoded by this gene is a secreted glycoprotein, which is a member of the hematopoietin receptor family related to the p40 subunit of interleukin 12 (IL-12). It might play a role in regulating cell-mediated immune responses. 9342359,14743498,8551575,16189514,15489334,15231748,15170639,15057824,12477932,12121660,934235 10148 NM_005755,AC005578,CH471139,BC015364,BC046112,CR592116,CR592737,CR598195,CR602081,CR604910,CR606815,CR608081,CR610744,CR615391,CR615695,CR616709,CR626045,L08187 NP_005746,AAC33488,EAW69244,EAW69245,AAH15364,AAH46112,AAA93193,Q14213,ABM82515,ABW03382 Hs.501452 GDB:9600442 protein-coding 1347016 EBM epidermolysis bullosa, macular type 1881 GDB:119102 1313990 EBNA1BP2 EBNA1 binding protein 2 1580863 12768013,12477932,11790298,11438656,11327720,10849420,10074103,9373149,8125298,2879624,15489334,17353931,7596406,15923612 10969 NM_006824,AL139138,CH471059,AK223455,BC009175,BC073924,BT006920,CR456975,CR590575,CR605280,CR605987,CR613176,CR613349,CR614881,CR616272,U86602 NP_006815,CAI18962,EAX07112,EAX07113,EAX07114,EAX07115,BAD97175,AAH09175,AAP35566,CAG33256,AAB46731,Q6IB29,Q99848 Hs.346868 GDB:9958700 EBP2|NOBP|P40 protein-coding 1345811 EBP emopamil binding protein (sterol isomerase) The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). 734908,1580863 7706302,10391219,17949453,17498944,17378690,16344560,15772651,15489334,12760743,12569389,12483303,12477932,11493318,10942423,10391218,9894009,8938429 734908 10682 NM_006579,NG_007452,AF196972,CH471224,AU128761,BC001549,BC001572,BC046501,CA488777,CR456815,CR542094,CR601932,CR603434,CR609847,CR615017,CR616138,CR619002,Z37986 NP_006570,EAW50773,EAW50774,EAW50775,AAH01549,AAH01572,AAH46501,CAG33096,CAG46891,CAA86068,Q6FGL3,ABM82517,ABM85711,ABM85712,Q15125 Hs.30619 GDB:125212 CDPX2|CHO2|CPX|CPXD protein-coding 1312086 EBPL emopamil binding protein-like 1580863 16806233,15489334,12760743,12477932 84650 NM_032565,AL135901,CH471075,AF243433,BC018478,BC021021,BC073152,BC092471,CR618798 NP_115954,CAI40717,CAI40718,CAI40719,CAI40720,CAI40721,EAX08832,EAX08833,EAX08834,EAX08835,EAX08836,AAK28348,AAH18478,AAH73152,AAH92471,Q569H7,Q5JVN4,Q6GPH7,Q9BY08,ABM82447,ABM85637 Hs.433278 EBRP|RP11-432M24.2 protein-coding 1345572 EBR3 epidermolysis bullosa 3, progressiva 1884 GDB:118739 1354209 EBR4 epidermolysis bullosa 4, pseudojunctional (intraepidermal) 1885 GDB:127832 1350056 EBS1 epidermolysis bullosa simplex 1 (Ogna) GDB:119856 1349413 EBVM1 Epstein Barr virus modification site 1 2843323,14526168 1887 GDB:119103 1350687 EBVS1 Epstein Barr virus insertion site 1 6095452 1888 K02579 GDB:119858 1342653 ECA1 epilepsy, childhood absence 1 50966 GDB:10796318 1604642 ECD ecdysoneless homolog (Drosophila) 9928932,17081983,15489334,15128659,14702039,12477932,11090341,9373149,8125298,16189514,12746458 11319 NM_007265,AC016394,CH471083,AK022616,AK225519,BC000721,BC103720,CR457407,D88208 NP_009196,EAW54477,EAW54478,AAH00721,CAG33688,BAA75199,O95905,Q6I9U8,ABM83098,ABM86292 Hs.631822 GCR2|HSGT1 protein-coding 731823 ECE1 endothelin converting enzyme 1 Endothelin-converting enzyme-1 is involved in the proteolytic processing of endothelin-1 (EDN1; MIM 131240), -2 (EDN2; MIM 131241), and -3 (EDN3; MIM 131242) to biologically active peptides.[supplied by OMIM] 1580902,1580904,734909,1580906,1580908,1580909,1580910,1580911,1580912,734910,1581735,1580863,735003 16986361,7695628,7864876,18334739,18039931,17977716,17761169,17712175,17701914,17664854,17618613,17592116,17295044,17264805,17081983,16710414,16698938,16567585,16531800,16526315,16344560,16289162,16263699,16234608,16023075,15665524,15489334,15342556,15340356,15240857,15146197,15126915,15010576,14597855,12609744,12477932,12464614,12393864,12244060,12011762,11906289,11723113,10833511,10620363,10491078,10438732,9915973,9595387,9396733,9253714,8889548,8641140,8530372,7805846 1580902,1580904,734909,1580906,1580908,1580909,1580910,1580911,1580912,734910,1581735,735003 1889 NM_001397,NM_001113347,NM_001113348,NM_001113349,AF018034,AL031005,AL031728,AY953519,CH471134,X91922,X91923,AB031742,AJ130828,AK290656,BC106022,BC117256,BC126257,BP234532,BP337331,BU733112,BX648351,CN298523,CN298525,D43698,D49471,DA436879,DA445355,DA445401,DB290492,X98272,Z35307 NP_001388,NP_001106818,NP_001106819,NP_001106820,AAD21221,CAI20192,CAI20193,CAI20194,CAI20195,AAX35820,EAW94957,EAW94958,EAW94959,EAW94960,EAW94961,EAW94962,EAW94963,EAW94964,EAW94965,EAW94966,CAA63015,CAA63016,BAA83687,CAB46443,BAF83345,AAI17257,AAI26258,BAA07800,BAA08442,CAA66922,CAA84548,P42892,Q2Z2K8 Hs.195080 GDB:698357 ECE protein-coding 1349338 ECE2 endothelin converting enzyme 2 Endothelin-converting enzymes, such as ECE2 (EC 3.4.24.71), are type II metalloproteases that generate functionally pleiotropic members of the endothelin vasoactive peptide family (Lorenzo et al., 2001 [PubMed 11718899]).[supplied by OMIM] 1580863 11718899,17188679,16567585,12975309,12477932,11181995,11078322,9628581 9718 NM_014693,NM_032331,NM_001100120,NM_001100121,NM_001037324,AC061705,AC078797,CH471052,AB011176,AF192531,AF428263,AF428264,AF521189,AY359003,BC005835,BC012449,BC069005,BC142950,BU568980,CR595932,CR620009 NP_055508,NP_115707,NP_001093590,NP_001093591,NP_001032401,EAW78273,EAW78274,EAW78275,EAW78276,EAW78277,EAW78278,EAW78279,BAA25530,AAG28399,AAL30386,AAL30387,AAM77664,AAQ89362,AAH05835,AAH12449,AAH69005,AAI42951,O60344,Q6UW36,Q8NFD7,AAI46831 Hs.146161 KIAA0604|MGC17664|MGC2408|MGC78487 protein-coding 731078 ECEL1 endothelin converting enzyme-like 1 This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. This gene is expressed specifically in the central nervous system and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes. 632557,734911,1580863 9931490,18192274,15815621,15489334,14992683,12975309,12632073,12477932,11352565,10698686 632557,734911 9427 NM_004826,AC092165,AF307337,AJ130734,CH471063,AB030579,AB073895,AY358923,BC050453,BM564570,DQ114476,Y16187 NP_004817,AAY24101,CAB86601,EAW70999,EAW71000,BAC66225,AAQ89282,AAH50453,AAZ22338,CAA76113,O95672,Q86SN0 Hs.26880 GDB:9956671 DINE|ECEX|XCE protein-coding 1354214 ECEL1P1 endothelin converting enzyme-like 1, pseudogene 1 11352565 260331 GDB:11510035 1343097 ECEL1P2 endothelin converting enzyme-like 1, pseudogene 2 12477932,11352565,10698686 347694 NG_002701,AC068134,AJ250424,BC067110 Hs.452575 GDB:11510037 ECEL2 pseudo 1343538 ECEL1P3 endothelin converting enzyme-like 1, pseudogene 3 11352565,10698686 260332 NG_002700,AC068134,AJ250423 GDB:11510039 pseudo 732278 ECH1 enoyl Coenzyme A hydratase 1, peroxisomal This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. 68827,1300048,1580863 7558027,17081983,16615866,15489334,14500732,12477932,9417087,15383276 68827 1891 NM_001398,AC008982,AC104534,AF030249,CH471126,AK126566,AK291860,AV738478,BC011792,BC014786,BC017408,BG527600,CR591368,CR593921,CR598218,CR600133,CR600240,CR603672,CR610523,CR611035,CR615338,CR620208,CR620644,CR622906,CR625294,U16660 NP_001389,AAB86485,EAW56821,EAW56822,EAW56823,EAW56824,EAW56825,BAC86598,BAF84549,AAH11792,AAH17408,AAC50222,Q13011,Q6ZTI9,ABM83852,ABM87174 Hs.196176 GDB:555696 HPXEL enoyl coenzyme a hydratase 1 protein-coding 1346197 ECHDC1 enoyl Coenzyme A hydratase domain containing 1 1580863 18326623,16344560,15489334,14702039,14574404,12477932 55862 NM_001105545,NM_001105544,NM_018479,NM_001002030,AL109939,CH471051,AF220192,AK021464,AK025760,AK025796,AL834469,BC003549,BE896631,CR626117,DA846978,DC297239,BQ224769 NP_001099015,NP_001099014,NP_060949,NP_001002030,CAB76256,CAI20295,CAI20296,CAI20297,CAI20298,CAI20299,CAI20301,CAI20302,EAW48101,EAW48102,EAW48103,EAW48104,EAW48105,EAW48106,EAW48107,EAW48108,AAF67657,CAD39128,AAH03549,Q5TEF6,Q5TEF7,Q5TEG0,Q5TEG3,Q5TEG5,Q5TEG6,Q9NTX5,Q9NZ30 Hs.486410 DKFZp762M1110|dJ351K20.2 protein-coding 1349844 ECHDC2 enoyl Coenzyme A hydratase domain containing 2 1580863 14702039,12477932 55268 NM_018281,AC099677,CH471059,AF258590,AK001810,AL832874,BC038389,BC040480,BC044574,BC051887,CR614256 Q8WY60,NP_060751,EAX06763,EAX06764,EAX06765,EAX06766,EAX06767,EAX06768,AAG23793,BAA91922,AAH40480,AAH44574,AAH51887,Q86V13,Q86YB7 Hs.476319 FLJ10948 protein-coding 1351756 ECHDC3 enoyl Coenzyme A hydratase domain containing 3 737633 15342556,12477932,9373149,8125298 737633 79746 AL138898,CH471072,AF275677,AF289604,AK024562,AK222511,AK290902,BC001091,BC009617,BP332406,CR599557,NM_024693,CR601232,CR621986,CR624346 NP_078969,CAH73455,CAH73456,CAH73457,EAW86340,EAW86341,EAW86342,AAG24387,AAL55788,BAB14928,BAD96231,BAF83591,AAH01091,AAH09617,Q5W0J6,Q96DC8 Hs.22242 FLJ20909 protein-coding 734312 ECHS1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. 1300048,1580863 13295248,9073515,17353931,16130169,17395278,15489334,15164054,12477932,12358155,11271497,8012501,7669045,1988037,1602151,1286669 1892 NM_004092,AL360181,CH471211,X98126,X98129,BC008906,BC013264,BT007123,CR591080,CR591488,CR594615,CR596739,CR597975,CR605028,CR607561,CR616268,CR626651,D13900 NP_004083,CAH70286,EAW61339,CAA66808,AAH08906,AAP35787,BAA03001,P30084 Hs.76394 GDB:5203581 SCEH protein-coding 1605731 ECM1 extracellular matrix protein 1 This gene encodes an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. This gene maps outside of the epidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described. 12761501,9367673,17927570,17721643,16713569,16512877,16335952,16274456,14702039,14550953,12603844,12477932,11929856,10733679,9501329,601588 1893 NM_004425,NM_022664,AL356356,CH471121,U65938,AK097046,AK097205,AK292435,BC023505,CR590823,CR593353,CR596945,CR603901,CR606666,CR609963,CR616494,CR622085,CR624464,U65932,U68186,U68187 NP_004416,NP_073155,CAI15491,CAI15492,CAI15493,EAW53544,EAW53545,EAW53546,EAW53547,AAB05934,BAF85124,AAH23505,AAB05933,AAB88081,AAB88082,O43266,Q16610,Q5T5G4,Q5T5G5,Q5T5G6,Q8IZ60,ABM83937,ABM87256 Hs.81071 GDB:3922327 protein-coding 1318155 ECM2 extracellular matrix protein 2, female organ and adipocyte specific ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix protiens. 1580863 15489334,15164053,12477932,11230166,11076863,9345023,9790758,16381901,15489336 1842 NM_001393,AL137848,AL157827,CH471089,AB011792,BC036806,BC105958,BC107493,BX537976 NP_001384,CAI12587,CAI12588,CAI12589,EAW62824,BAA33958,AAH36806,AAI05959,AAI07494,CAD97940,O94769,Q0JU11,Q3KR19,Q5T9F3,Q5T9F4,Q6PID0,Q7Z3D0,CAL38001 Hs.117060 GDB:9836821 MGC126355|MGC126356 protein-coding 1602094 ECOP EGFR-coamplified and overexpressed protein 17515955,16381901,16303743,15735698,15489336,15146197,14702039,12761501,12477932,11256614,11230166,11076863,9373149,8125298 81552 AF395824,AK000539,AK075391,AK090825,AK092992,AK126848,AK225755,AL136610,BC016650,CN299440,CR533483,CR606724,NM_030796,AC073237,AC073347,AC099681,CH236957,CH471201,AB097004 BAC77357,AAK82888,BAC11590,CAB66545,AAH16650,CAG38514,CAL37999,NP_110423,EAL23811,EAW50969,EAW50970,EAW50971,EAW50972 Hs.488307,Hs.610460 DKFZP564K0822|FLJ20532|GASP protein-coding 1602709 ECSIT ECSIT homolog (Drosophila) 17344420,16169070,15761153,14633973,12477932,10465784 51295 NM_016581,AC008481,CH471106,AF243044,BC000193,BC005119,BC008279,CR457204,CR592177,CR594733,CR596229,CR599347,CR602583,CR604665,CR605421,CR608548,CR610188,CR613109,CR614297,CR615551,CR616028,CR616122,CR616948,CR618925,CR621338,CR624195,CR625388 NP_057665,EAW84223,AAF62100,AAH00193,AAH05119,AAH08279,CAG33485,Q9BQ95 Hs.515146 SITPEC protein-coding 1318344 ECT2 epithelial cell transforming sequence 2 oncogene The protein encoded by this gene is a transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. 1580863 16129829,12761501,17688947,17488623,17115030,16964243,16862181,16803869,16778203,16352658,16247472,16170345,16118207,16103226,15642749,15545273,15254234,14702039,14668487,14587037,12477932,12376551,10837491,10579713,8889549,8464478,7665179 1894 NM_018098,AC108667,CH471052,AK001323,AK001515,AK023267,AK027713,AL137710,AY376439,BC006838,BC006987,BC070038,BC112086,DQ847274 NP_060568,EAW78460,EAW78461,BAA91624,BAB14498,BAB55317,CAB70886,AAQ83675,AAH06838,AAI12087,ABH10140,Q0MT80,Q2M269,Q6U836,Q96J05,Q96SJ9,Q9H8V3 Hs.518299 GDB:228490 FLJ10461|MGC138291 protein-coding 1353624 ECT2L epithelial cell transforming sequence 2 oncogene-like 387075 1348155 EDA ectodysplasin A The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. 1598881,1580863 11039935,8696334,10484778,9736768,18076698,17478381,17256800,17102627,16583127,16423472,15772651,15663448,15489334,14656435,12930312,12920369,12682853,12673367,12477932,12270937,11416205,11378824,11309369,11167539,10469321,9683615,9630076,9507389,9487109,8554048 1598881 1896 NM_001005609,NM_001005612,NM_001005610,NM_001005615,NM_001005611,AC002416,AF003528,AF060998,AL158069,AL158141,AL392090,AL450448,AL450449,CH471132,U59227,AF040628,NM_001399,AF060999,AF061189,AF061190,AF061191,AF061192,AF061193,AF061194,BC126143,BE892420,BQ008767,BQ422683,U59228 NP_001390,NP_001005609,NP_001005612,NP_001005610,NP_001005615,NP_001005611,AAB65831,AAC36303,EAX05360,EAX05361,EAX05362,AAC50678,AAC36302,AAC77371,AAC77372,AAC77373,AAC77374,AAC77375,AAC77376,AAC77363,AAI26144,AAC50679,Q92838 Hs.105407 ED1|ED1-A1|ED1-A2|EDA1|EDA2|HED|XHED|XLHED protein-coding 1344270 EDA2R ectodysplasin A2 receptor EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized by loss of hair, sweat glands, and teeth. The protein encoded by this gene specifically binds to EDA-A2 isoform. This protein is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains 3 cysteine-rich repeats and a single transmembrane domain but lacks an N-terminal signal peptide. Multiple alternatively spliced transcript variants have been found for this gene, but some variants lack sufficient support. 1580863 15280356,11039935,12270937,16423472,15489334,12975309,12477932,12060722 60401 Q5VYX9,Q5VYY0,Q9HAV5 NM_021783,AL353136,CH471132,AF298812,AY152724,AY358735,AY358736,BC034919 NP_068555,CAH70433,CAH70434,EAX05382,AAG28761,AAN73210,AAQ89952,AAQ89953,AAH34919,Q5VYX9,Q5VYY0,Q9HAV5 Hs.302017 EDA-A2R|EDAA2R|TNFRSF27|XEDAR protein-coding 1344202 EDAR ectodysplasin A receptor This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. 1598883,1580863 11035039,10431241,12270937,17501952,16435307,16423472,15489334,15340161,14729942,12477932,11997580,11882293,11780064,11570810,11309369,11039935,9545409,9375732 1598883 10913 NM_022336,AC073415,AC092160,AC133784,AF130996,CH471182,AF130988,AI017384,AK313781,BC093870,BC093872,CR749352 NP_071731,AAD50077,EAW53868,EAW53869,AAD50076,BAG36519,AAH93870,AAH93872,CAH18205,Q68DL5,Q9UNE0 Hs.171971 GDB:9837372 DL|ED1R|ED3|ED5|EDA-A1R|EDA1R|EDA3|FLJ94390 protein-coding 1351297 EDARADD EDAR-associated death domain This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863 11780064,16710414,14702039,12477932,11997580,11035039,9245989,11882293 128178 AK291930,AY028913,AY028914,AY071862,BC006533,BC114557,BC114560,BC128082,NM_145861,NM_080738,AL136105,AL354693,AY028912,CH471098,AK096339,AK290862 BAF84619,AAK40287,AAK40288,AAL60590,AAI28083,Q5VYJ6,Q5VYJ8,Q8WWZ3,NP_665860,NP_542776,AAK40285,AAK40286,EAW70047,EAW70048,EAW70049,EAW70050,EAW70051,EAW70052,BAF83551 Hs.352224 GDB:11500879 ED3|EDA3 protein-coding 1604794 EDC3 enhancer of mRNA decapping 3 homolog (S. cerevisiae) EDC3 is associated with an mRNA-decapping complex required for removal of the 5-prime cap from mRNA prior to its degradation from the 5-prime end (Fenger-Gron et al., 2005 [PubMed 16364915]).[supplied by OMIM] 16364915,17353931,17923697,16964243,15498874,15489334,15324660,15225602,14702039,12477932,9373149,8125298 80153 NM_025083,AC091230,AC100835,CH471136,AF193058,AK024781,AK056339,AK225099,AL133447,BC011534,BC021271 NP_079359,EAW99316,EAW99317,EAW99318,EAW99319,AAG22486,BAB15001,AAH11534,AAH21271,Q96F86 Hs.96852 FLJ21128|FLJ31777|LSM16|YJDC protein-coding 1606564 EDC4 enhancer of mRNA decapping 4 15231747,16364915,9067524,7520377,12477932 23644 NM_014329,AC040162,CH471092,AI076562,AK128582,AK291049,BC043616,BC053598,BC064567,BX445706,CR594351,CR601781,CR618363,L26339,U17474 NP_055144,EAW83183,BAC87512,BAF83738,AAH43616,AAH53598,AAH64567,AAA21833,AAB51444,Q6P2E9 Hs.75682 Ge-1|HEDLS|RCD-8 protein-coding 1349759 EDEM1 ER degradation enhancer, mannosidase alpha-like 1 1580863 12477932,16449189,17360537,16629899,15579471,15489334,12610306,12610305,11375934,9039502,17353931 9695 NM_014674,AC026202,CH471055,AK292643,BC019088,CR597249,CR621147,D86967 NP_055489,EAW63925,EAW63926,BAF85332,AAH19088,BAA13203,Q92611,Q96EZ6,ABM83604,ABM86847 Hs.224616 EDEM|KIAA0212 protein-coding 1354312 EDEM2 ER degradation enhancer, mannosidase alpha-like 2 In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM] 15579471,15537790,15489334,14702039,12975309,12477932,11780052,9110174,8619474 55741 NM_018217,AL135844,AL356652,CH471077,AF086313,AK001645,AK023931,AK096016,AY007088,AY358580,BC001371,BC016184,CR457266,CR590035,CR591753,CR593253,CR594587,CR598404,CR600513,CR601922,CR602215,CR610779,CR612837,CR624527,CR625751 NP_060687,CAH73763,EAW76225,EAW76226,EAW76227,EAW76228,BAA91806,BAB14731,AAQ88943,AAH01371,AAH16184,CAG33547,Q9BV94 Hs.356273 GDB:11504969 C20orf31|C20orf49|FLJ10783|bA4204.1 protein-coding 1353394 EDEM3 ER degradation enhancer, mannosidase alpha-like 3 Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM] 16710414,16431915,16344560,15579471,15537790,14702039,12477932,11318611,9373149,8125298 80267 NM_025191,AL096819,CH471067,AF288393,AI521228,AK000945,AK023095,AK225171,AL117441,BC016464,BC070173,BC105586,DA724785,DB292148 NP_079467,CAI21741,EAW91178,EAW91179,EAW91180,EAW91181,EAW91182,EAW91183,AAG60613,BAA91438,BAB14402,CAB55926,AAH16464,AAI05587,Q5TEZ1,Q9BZQ6,Q9H941,Q9NWE4 Hs.523811 GDB:11505336 C1orf22 chromosome 1 open reading frame 22 protein-coding 1317635 EDF1 endothelial differentiation-related factor 1 This gene encodes a protein that may regulate endothelial cell differentiation. It has been postulated that the protein functions as a bridging molecule that interconnects regulatory proteins and the basal transcriptional machinery, thereby modulating the transcription of genes involved in endothelial differentiation. This protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Two alternatively spliced transcripts which encode distinct proteins have been found for this gene. 1580863 12040021,10567391,9813014,8164657,16567061,15489334,15164053,15112053,12477932,10816571,10469174,16189514 8721 NM_003792,NM_153200,AL355987,CH471090,CS185530,AB002282,AB002283,BC015500,BT009863,CR541914 NP_003783,NP_694880,CAI12697,CAI12698,CAI12699,EAW88296,EAW88297,EAW88298,CAJ42711,BAA88073,BAA88074,AAH15500,AAP88865,CAG46712,O60869,ABM82503,ABM85696 Hs.174050 GDB:9956739 EDF-1|MBF1|MGC9058 protein-coding 1343635 EDIL3 EGF-like repeats and discoidin I-like domains 3 The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. 1580863 9420328,12477932,12074641,11959660 10085 O43854,Q5D094,Q8N610 U70313,NM_005711,AC010600,AC020936,AC020938,AC026440,AC093296,AC109496,CH471084,AA053720,BC030828,BC053656,BX648583,U70312 AAC02648,AAC02649,O43854,Q5D094,Q8N610,NP_005702,EAW95916,EAW95917,EAW95918,AAH30828,AAH53656 Hs.482730 GDB:9954983 DEL1|MGC26287 protein-coding 730848 EDN1 endothelin 1 734914,1625065,1331525,734913,734910,1580863,1580323,1625064 10770212,17078114,12379507,16820593,10393673,18442814,18288492,18260253,18080871,18063846,18050250,18031458,18025413,18023202,18005077,17996929,17969585,17967707,17960156,17938376,17913962,17893002,17875064,17855483,17850909,17701914,17693542,11991733,11991554,11934840,11932487,11866544,11858185,11831453,11795667,11751711,11742499,11693192,11601839,11593097,11448123,11410113,11399938,11210078,11179511,10620363,10438732,10391210,10334806,10231710,10220569,9595387,9324057,9284755,9257865,8889548,8450044,8144511,8125160,7773179,7664037,3282927,2678110,2670930,2659594,15139053,15126915,15093707,15073116,15047866,15044479,15041798,15009217,14769714,14763917,14736087,14735061,14733410,14692644,14685288,14660616,14639018,14636060,14634722,14602502,14587645,14578413,14574404,14558091,14523636,14519635,14514737,13680553,12972292,12963677,12941866,12907686,12887757,12861161,12855940,12750312,12746758,12721154,12695528,12657945,12629276,12620701,12588850,12565798,12557940,12529269,12511547,12508654,12477932,12459174,12446192,12230494,12189238,12151765,12144123,12137974,12117726,12107733,12087564,12082592,15817494,15743480,15702240,15699938,15652492,15646831,15643502,15623376,15621731,15610525,15568807,15558022,15518541,15505112,12077518,12068797,12013496,12011762,12009599,15489334,15466627,15369130,15347673,15319532,15269821,15240857,15224360,15213100,15198485,15194301,15188945,15161426,15818445,17681742,17664854,17664075,17576235,17575543,17569300,17556493,17549358,17535295,17525706,17505299,17497362,17470272,17460393,17444275,17438153,17404040,17395629,17357073,17353514,17345061,17340622,17335511,17328840,17291632,17274718,17264805,17222082,17221318,17203161,17148661,17123690,17122448,17020466,17016617,17016610,16986361,16982943,16971893,16956834,16947775,16943682,16931893,16864942,16815566,16809784,16778329,16769575,16720059,16713569,16648553,16597412,16582543,16531800,16526196,16521405,16466695,16452160,16357176,16336267,16320159,16291872,16234608,16217751,16098041,16097909,16095497,16076689,16026642,16021085,16002759,15988412,15979050,15946919,15946241,15864745,15838369,2649896,2201681,2018043,2005113,1864385,1859417,1736987,1515112,1422154,1280264,17197385,15481145,8482849,9453574,16189514 734914,1625065,1331525,734913,734910,1580323,1625064 1906 NM_001955,AY434104,CH471087,J05008,M25380,M25549,Z98050,AK226096,AK291838,BC009720,BC036851,BG540968,BM680754,CA306604,CR541903,CR591383,CR602522,CR605456,S56805,Y00749 NP_001946,AAQ96600,EAW55313,EAW55314,EAW55315,EAW55316,AAA52339,AAA52407,AAA52338,CAB10846,BAF84527,AAH09720,CAG46701,AAB25760,CAA68718,P05305,Q6FH53,ABM81907,ABM85081 Hs.511899,Hs.700715 GDB:119861 ET1|HDLCQ7 protein-coding 737548 EDN2 endothelin 2 1580915,1580916,1580917,1580918,1580919,1580921,1580920,1625402,1580863 9492062,1701397,18037749,15489334,12516960,12477932,12207323,12184531,11187978,10438732,9675146,9588179,9284755,9164966,9085198,8821821,8697704,8671207,8345469,8323558,7509960,7509938,2649896,2201681,2018043,1840558,1725387,1725334,1652300,1446139,1345052 1580915,1580916,1580917,1580918,1580919,1580921,1580920,1625402 1907 NM_001956,AL445933,AY518541,CH471059,M25550,BC034393,M65199,S63833,S63834,S63837,S63838,X55177 NP_001947,CAI14535,AAR89914,EAX07175,AAA52340,AAH34393,AAA52404,CAA38962,P20800,Q5T1R3 Hs.1407 GDB:125241 ET2 protein-coding 1344952 EDN3 endothelin 3 The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. 1601001,1601002,1601003,1580863 8630502,17554617,17009072,16423827,15489334,14669347,12477932,12189494,11982704,11780052,11303518,11106284,10884419,10438732,10231870,9359047,9359036,9284755,9257865,8696331,8632985,8630503,8001160,7881755,2649896,2509452,2226872,8298278,10770212,2178974,2018043,1889823,1610811,1464662,16189514 1601001,1601002,1601003 1908 NM_207032,NM_207034,NM_000114,NM_207033,AL035250,AY444503,CH471077,M25551,BC008876,BC053866,BT007085,DQ096281,J05081,S50864,X52001 NP_996915,NP_996917,NP_000105,NP_996916,CAB65996,CAB65997,CAB65998,AAR16083,EAW75434,EAW75435,EAW75436,EAW75437,AAA52341,AAH08876,AAH53866,AAP35748,AAZ03610,AAA52405,CAA36252,P14138,Q4FAT2,Q6LDQ8,Q7Z6D2,Q9UGT7 Hs.1408 GDB:119862 ET3|MGC15067|MGC61498 protein-coding 737537 EDNRA endothelin receptor type A 1580946,1580947,1580948,1580949,1580950,1580952,1580945,1580863,734916 8702836,9284755,1849646,1326535,18172451,17706018,17616694,17616673,17575543,17525706,17470272,17468950,17437213,17353514,17203161,17198909,17122448,17016617,16984730,16971893,16962346,16947775,16879994,16816835,16648553,16618267,16582543,16567585,16531800,16344560,16208144,16149067,16002759,15988412,15851553,15713850,15489334,15213100,15187089,15139053,15073116,15047866,15041798,14729387,14636059,14616768,14519635,12875994,12768436,12629276,12595285,12544508,12477932,12082592,11982704,11930911,11601839,11382773,11376172,11262386,8611157,10789830,10770212,10448102,9211925,8440682,8427579,8114678,7882989,1719979,1659806,1652463,1415318,1291713,16189514 1580946,1580947,1580948,1580949,1580950,1580952,1580945,734916 1909 AAB24923 NM_001957,AC093908,AY422989,CH471056,D11151,S55772,AF014826,AK312812,AY275462,BC022511,CD723797,D90348,DA775295,L06622,S45956,S57498,S63938,S67127,S81539,S81542,S81545,X61950 NP_001948,AAQ87880,EAX05017,EAX05018,EAX05019,EAX05020,EAX05021,BAA01920,AAB25212,AAB94859,BAG35670,AAP32294,AAH22511,BAA14359,AAA58447,AAB23644,AAB25530,AAB20278,AAB20407,AAB36325,AAB36326,AAB36327,CAA43953,AAB24923,P25101,ABM83255,ABM86458 Hs.183713 GDB:129028 ETA|ETRA protein-coding 736090 EDNRB endothelin receptor type B The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Three transcript variants encoding two different isoforms have been found for this gene. While both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be functionally distinct. 1580945,1580946,1580948,1580949,1580951,1580952,1601006,1601008,1581890,1580863 17616673,17611649,17554617,17535295,17525706,17470272,17353514,17203161,17202412,17011274,17009072,16962346,16947775,16816835,16567585,16531800,16328051,16145050,16002759,15988412,15950764,15598844,15489334,15350137,15213100,15073116,14729387,17618893,8810293,9556633,8001158,18310504,18187958,18162831,18157142,17855483,14669347,14636059,14519635,12972292,12875994,12694195,12629276,12628594,12544508,12477932,12439722,12355085,12226103,12189494,12135322,12117726,11982704,11930911,11920632,11891690,11854280,11829485,11601839,11565556,11471546,11376172,10789830,10528251,10510297,10090908,10072757,9760196,9359036,9284755,9261180,9211925,8852660,8852659,8852658,8634719,8630503,8440682,8429023,8001160,7987295,2175394,1713452,1710450,1659806,1648908,1291713,1282938 1580945,1580946,1580948,1580949,1580951,1580952,1601006,1601008,1581890 1910 AAB24922 D13168,AB209198,AF114165,AK290699,AY275463,BC014472,CR605578,CR608540,CR611011,CR613068,CR623558,D90402,H28710,L06623,M74921,S44866,S57283,X99250,NM_000115,NM_003991,NM_001122659,AJ458188,AJ458189,AJ458190,AJ458191,AL139002,AY547312,CH471093 EAW80578,BAA02445,BAD92435,AAD24541,BAF83388,AAP32295,AAH14472,BAA14398,AAA52342,AAA58465,AAB19411,AAB25531,CAA67623,AAB24922,P24530,Q59GB1,Q5W0G9,Q8NHM6,Q8NHM7,Q8NHM9,Q8NHM8,Q9UD23,NP_000106,NP_003982,NP_001116131,CAD30645,CAD30646,CAD30647,CAD30648,CAH72430,AAS38516,EAW80573,EAW80574,EAW80575,EAW80576,EAW80577 Hs.82002 GDB:129075 ABCDS|ETB|ETBR|ETRB|HSCR|HSCR2 protein-coding 1320911 EEA1 early endosome antigen 1 1580863 10491193,11741531,11256955,7768953,9697774,17146146,17113235,16448788,16331966,15451443,15342556,15052657,14600265,12963735,12493736,12477932,12271471,11870209,11230696,11226253,10903204,10807926,10506127,10458612,10394369,10024533,15782196 8411 NM_003566,AC016136,AC021646,AC026111,CH471054,AF173389,AK292008,BC017837,BF515615,BP228986,BX648463,L40157,X78998 NP_003557,EAW97471,EAW97472,AAQ13630,BAF84697,AAH17837,AAA79121,CAA55632,Q05D76,Q15075,Q7Z4D4,AAI56546 Hs.567367 GDB:1369996 MST105|MSTP105|ZFYVE2 early endosome antigen 1, 162kd protein-coding 1344943 EEC1 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 1424230 1913 GDB:136338 1347602 EEC2 ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 9443880 1914 GDB:9837796 1320306 EED embryonic ectoderm development This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 15385962,16357870,18302803,17804093,17547741,15225548,14759364,14610174,12943661,12788942,12477932,12435631,11158321,10581039,9880543,9806832,9765275,9742080,9584199,9584197,16075307,15875659,15638726,9566901 8726 BC068995,CR616231,CR616258,U90651,NM_152991,NM_003797,AP003084,CH471076,AF070418,AF078933,AF080227,AF099032,AI378297,AK292120,AL546955,BC047672 AAH47672,AAH68995,AAD08714,O00149,O75530,Q6NTH2,Q7LDA5,Q7LDG8,Q86VV2,Q9UNY7,ABZ92272,NP_694536,NP_003788,EAW75129,EAW75130,EAW75131,AAC23685,AAC68675,AAC95144,AAD08815,BAF84809 Hs.503510 GDB:9956754 HEED|WAIT1 protein-coding 68966 EEF1A1 eukaryotic translation elongation factor 1 alpha 1 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. 3512269,3570288,15231747,17373842,15189156,8812466,10368288,2564392,18331827,18221514,18079119,17998013,17825975,17719568,17640892,17595531,17332776,16916647,16828757,16689924,16583711,16354621,16289162,16169070,15952740,15862967,15835887,15716006,15695360,15635413,15592455,15489334,15383276,15324660,15231748,15109557,14996095,14702039,14623968,12840015,12594214,12477932,12426393,12426392,12354112,11886851,11854414,11829477,11690632,11689615,11672422,10941842,10851272,10364286,10094407,9852145,9465091,9407120,9373149,9310071,8743958,8626763,8125298,7890750,7806521,7542776,6568109,3960725,3346208,3169261,2569467,2556394,2183196,16189514,14743216 1915 NM_001402,AL603910,CH471051,J04617,AF174496,AF211972,AF328730,AF397403,AJ420488,AK024888,AK026650,AK055058,AK058051,AK058082,AK058163,AK098510,AK098518,AK098587,AK098623,AK127384,CR604777,CR604780,CR604846,CR604941,CR604954,CR604983,CR605017,CR605055,CR605108,CR605210,CR605359,CR605368,CR605403,CR605416,CR605428,CR605447,CR605466,CR605681,CR605707,CR605721,CR605722,CR605796,CR605857,CR605892,CR606120,CR606125,CR606176,CR606195,CR606294,CR606367,AK222515,CR600672,CR600924,CR600991,CR601023,CR601033,CR601054,CR601168,CR601238,CR601250,CR601273,CR601439,CR601469,CR601505,CR601574,CR601606,CR601910,CR601985,CR602061,CR602084,CR602209,CR602226,CR602266,CR602278,CR602340,CR602376,CR602401,CR602410,CR602421,CR602448,CR602456,CR602467,CR602475,CR602503,CR602523,CR602538,CR602557,CR602566,CR602582,CR602664,CR602671,CR602680,CR602706,CR600616,CR602721,CR602733,CR602772,CR602798,CR602811,CR602826,CR602861,CR602968,CR602993,CR603053,CR603057,CR603064,CR603088,CR603089,CR603227,CR603261,CR603355,CR603371,CR603518,CR603565,CR603608,CR603637,CR603651,CR603696,CR603749,CR603802,CR603806,CR603826,CR603828,CR603848,CR603888,CR603890,CR603996,CR604053,CR604113,CR604172,CR604179,CR604181,CR604230,CR604241,CR604300,CR604325,CR604350,CR604392,CR604465,CR604470,CR604487,CR604553,CR604566,CR604567,CR604670,CR602715,CR598683,CR598686,CR598687,CR598700,CR598785,CR598882,CR598901,CR598916,CR598928,CR598950,CR599024,CR599128,CR599149,CR599211,CR599239,CR599250,CR599305,CR599384,CR599412,CR599475,CR599540,CR599680,CR599686,CR599709,CR599729,CR599777,CR599818,CR599857,CR599860,CR599887,CR599945,CR599946,CR599957,CR599991,CR600052,CR600053,CR600378,CR600395,CR600433,CR600447,CR600521,CR600530,CR600531,CR600550,CR600552,CR600591,CR595294,CR595337,CR595387,CR595407,CR595505,CR595533,CR595549,CR595554,CR595629,CR595655,CR595702,CR595753,CR595789,CR595792,CR595793,CR595800,CR595803,CR595809,CR595872,CR595880,CR595939,CR596133,CR596136,CR596219,CR596281,CR596291,CR596406,CR596435,CR596437,CR596516,CR596534,CR596549,CR596574,CR596576,CR596579,CR596665,CR596732,CR596769,CR596775,CR596862,CR596864,CR596931,CR597006,CR597021,CR597171,CR597218,CR597264,CR597285,CR597290,CR597300,CR597414,CR597419,CR597446,CR597453,CR597513,CR597538,CR597565,CR597575,CR597675,CR597765,CR597863,CR598068,CR598069,CR598223,CR598268,CR598277,CR598325,CR598371,CR598392,CR598396,CR598432,CR598473,CR598508,CR598550,CR598600,CR598631,CR598641,CR609710,CR609851,CR609888,CR609917,CR609922,CR609969,CR609972,CR610031,CR610058,CR610064,CR610076,CR610077,CR610103,CR610117,CR610171,CR610218,CR610228,CR610229,CR610244,CR610323,CR610407,CR610420,CR610434,CR610436,CR610526,CR610541,CR610543,CR610545,CR610587,CR610593,CR610594,CR610596,CR610671,CR610709,CR610725,CR610774,CR610777,CR610809,CR610896,CR611052,CR613082,CR613102,CR613157,CR613220,CR613222,CR613223,CR613226,CR613230,CR613238,CR613275,CR613378,CR613423,CR613440,CR613443,CR613462,CR613514,CR613522,CR613539,CR613543,CR613591,CR613645,CR613716,CR613759,CR613777,CR613781,CR613928,CR613930,CR614017,CR614027,CR614034,CR614047,CR614121,CR614124,CR614152,CR614203,CR614255,CR614341,CR614479,CR614488,CR614511,CR614543,CR614559,CR614601,CR614602,CR614695,CR614712,CR614761,CR614776,CR614800,CR614812,CR614905,CR614944,CR614995,CR615002,CR615109,CR615204,CR615290,CR615294,CR615399,CR615411,CR611093,CR611114,CR611142,CR611185,CR611243,CR611245,CR611262,CR611304,CR611318,CR611331,CR611335,CR611367,CR611396,CR611419,CR611444,CR611491,CR611509,CR611533,CR611598,CR611652,CR611675,CR611678,CR611684,CR611768,CR611854,CR611904,CR611941,CR611987,CR612263,CR612294,CR612295,CR612402,CR612550,CR612574,CR612667,CR612674,CR612676,CR612695,CR612718,CR612780,CR612835,CR612836,CR612871,CR612919,CR612943,CR612953,CR613001,CR613015,CR613030,CR613041,CR613071,CR604684,CR606368,CR608799,CR608800,CR608845,CR608880,CR608881,CR608883,CR608909,CR608952,CR609004,CR609034,CR609061,CR609264,CR609280,CR609287,CR609294,CR609309,CR609311,CR609353,CR609412,CR609452,CR609475,CR609506,CR609639,CR609660,CR606424,CR606442,CR606446,CR606508,CR606528,CR606545,CR606574,CR606582,CR606707,CR606729,CR606744,CR606779,CR606780,CR606781,CR606791,CR606846,CR606931,CR606933,CR606943,CR606985,CR607022,CR607024,CR607038,CR607063,CR607066,CR607112,CR607123,CR607175,CR607177,CR607264,CR607359,CR607432,CR607663,CR607669,CR607670,CR607722,CR607737,CR607738,CR607784,CR608014,CR608040,CR608065,CR608103,CR608178,CR608237,CR608239,CR608251,CR608355,CR608362,CR608408,CR608504,CR608566,CR608594,CR608600,CR608671,CR608711,BC070500,BC071619,BC071727,BC071741,BC071841,BC072385,BC082268,BC094687,BC111051,CR589997,CR590026,CR590027,CR590028,CR590074,CR590076,CR590121,CR590136,CR590352,CR590363,CR590365,CR590392,CR590401,CR590407,CR590432,CR590540,CR590659,CR590677,CR590709,CR590733,CR590788,CR590838,CR590948,CR590970,CR591030,CR591031,CR591058,CR591063,CR591100,CR591105,CR591177,CR591227,CR591299,CR591412,CR591427,CR591440,CR591463,CR591491,CR591500,CR591510,CR591519,CR591534,CR591544,CR591605,CR591657,CR591766,CR591864,CR591874,CR591929,CR592032,CR592196,CR592246,CR592253,CR592261,CR592265,CR592337,CR592380,CR592406,CR592422,CR592507,CR592512,CR592514,CR592584,CR592640,CR592686,CR592691,CR592703,CR592772,CR592903,CR592934,CR593098,CR593234,CR593243,CR593256,CR593260,CR593301,CR593333,CR593370,CR593378,CR593381,CR593391,CR593404,CR593476,CR593507,CR593550,CR593552,CR593668,AK222519,AK222523,AK222551,AK222982,AK223030,AK223042,AK223046,AK289374,AK289442,AK290691,AK292639,AK315827,AY043301,AY062434,BC008587,BC009733,BC009875,BC010735,BC012509,BC012891,BC014224,BC014377,BC014892,BC018150,BC018641,BC018850,BC019050,BC019669,BC020477,BC021686,BC022412,BC028674,BC029337,BC029343,BC029997,BC035877,BC038339,BC057391,BC063511,BC065761,BC066893,BC066894,BC070131,CR590346,CR593717,CR593719,CR593746,CR593748,CR593781,CR593852,CR593902,CR593922,CR593953,CR593975,CR594086,CR594167,CR594205,CR594261,CR594293,CR594336,CR594392,CR594494,CR594579,CR594598,CR594612,CR594664,CR594666,CR594681,CR594724,CR594727,CR594728,CR594731,CR594756,CR594859,CR594861,CR594927,CR594930,CR594936,CR594960,CR594977,CR595004,CR595015,CR595018,CR595113,CR595126,CR595165,CR595243,CR625791,CR625841,CR625872,CR625921,CR625936,CR625950,CR625956,CR625959,CR625960,CR626070,CR626116,CR626123,CR626129,CR626139,CR626191,CR626193,CR626240,CR626273,CR626288,CR626378,CR626402,CR626429,CR626437,CR626496,CR626524,CR626551,CR624066,CR624120,CR624162,CR624188,CR624262,CR624279,CR624323,CR624327,CR624457,CR624516,CR624526,CR624538,CR624630,CR624631,CR624727,CR624737,CR624753,CR624776,CR624777,CR624792,CR624834,CR624857,CR624859,CR624869,CR625000,CR625023,CR625083,CR625085,CR625168,CR625179,CR625246,CR625250,CR625302,CR625305,CR625353,CR625378,CR625479,CR625529,CR625564,CR625624,CR625682,CR625708,CR625709,CR625724,CR622450,CR622504,CR622511,CR622542,CR622606,CR622628,CR622654,CR622753,CR622815,CR622838,CR622840,CR622852,CR622859,CR622899,CR623011,CR623017,CR623035,CR623085,CR623097,CR623099,CR623199,CR623212,CR623309,CR623409,CR623425,CR623436,CR623444,CR623463,CR623517,CR623541,CR622394,CR622421,CR623654,CR623656,CR623717,CR623735,CR623777,CR623796,CR623825,CR623870,CR623925,CR624039,CR624058,CR618511,CR618533,CR618534,CR618646,CR618656,CR618693,CR618710,CR618776,CR618780,CR618799,CR618854,CR618968,CR618979,CR618996,CR619010,CR619055,CR619106,CR619135,CR619142,CR619212,CR619254,CR619258,CR619275,CR619356,CR619358,CR595285,CR608737,CR615553,CR615592,CR615611,CR615629,CR615717,CR615756,CR615760,CR615777,CR615800,CR615827,CR615902,CR615905,CR616004,CR616070,CR616130,CR616145,CR616178,CR616180,CR616186,CR616200,CR616255,CR616394,CR616465,CR616526,CR616654,CR616683,CR616695,CR616704,CR616706,CR616763,CR616769,CR616795,CR616796,CR616814,CR616819,CR616822,CR616837,CR616882,CR616916,CR616923,CR616927,CR616932,CR616936,CR616970,CR617038,CR617053,CR617075,CR617079,CR617124,CR617291,CR617336,CR617353,CR617435,CR617466,CR617574,CR617584,CR617606,CR617613,CR617730,CR617739,CR617773,CR617777,CR617780,CR617805,CR617815,CR617816,CR617819,CR617947,CR617969,CR617971,CR617976,CR617982,CR618019,CR618138,CR618143,CR618155,CR618170,CR618235,CR618256,CR618335,CR618342,CR618427,CR618461,CR618475,CR619438,CR619442,CR619446,CR619452,CR619453,CR619464,CR619474,CR619519,CR619570,CR619590,CR619661,CR619671,CR619717,CR619735,CR619892,CR619907,CR620117,CR620120,CR620284,CR620308,CR620333,CR620345,CR620386,CR620469,CR620512,CR620552,CR620714,CR620716,CR620718,CR620741,CR620743,CR620758,CR620915,CR620948,CR620971,CR621027,CR621044,CR621098,CR621104,CR621126,CR621185,CR621202,CR621257,CR621418,CR621463,CR621480,CR621482,CR621539,CR621590,CR621597,CR621604,CR621651,CR621775,CR621903,CR621910,CR621933,CR621964,CR622030,CR622043,CR622074,CR622147,CR622148,CR622149,CR622163,CR622173,CR622232,CR622293,CR622316,CR622326,CR622360,CR622389,CR626575,CR626603,CR626649,CR626694,CR626735,CR626770,DQ185041,EF362804,M27364,M29548,X03558,X03689,X16869 NP_001393,CAI14883,CAI40951,EAW48759,AAA52343,AAF36537,AAN09722,AAK93966,AAH70131,AAH70500,AAH71619,AAH71727,AAH71741,AAH71841,AAH72385,AAH82268,AAH94687,AAI11052,BAD96239,BAD96243,BAD96271,BAD96702,BAD96750,BAD96762,BAD96766,BAF82063,BAF82131,BAF83380,BAF85328,BAF98718,AAK95378,AAL38981,BAD96235,AAH08587,AAH09733,AAH09875,AAH10735,AAH12509,AAH12891,AAH14224,AAH14377,AAH14892,AAH18150,AAH18641,AAH19669,AAH21686,AAH22412,AAH28674,AAH38339,AAH57391,AAH63511,AAH65761,AAH66893,ABD14421,ABO30531,AAA52344,AAA52367,CAA27245,CAA27325,CAA34756,P68104,Q14222,Q16577,Q2F837,Q504Z0,Q53G85,Q53G89,Q53GA1,Q53GE9,Q53HM9,Q53HQ7,Q53HR1,Q53HR5,Q5JR01,Q6IPN6,Q6IPS9,Q6IPT9,Q6IQ15,Q6NS35,Q6NSH7,Q6P082,Q6P4C9,Q8IUB0,Q8TBL1,Q96C29,Q96CD8,Q96EB3,Q96RE1,Q9H2I7,Q9NZS6,ABM82376,ABM85555 Hs.520703,Hs.586423,Hs.644639,Hs.704732,Hs.708256 GDB:118791 CCS-3|CCS3|EEF-1|EEF1A|EF-Tu|EF1A|FLJ25721|GRAF-1EF|HNGC:16303|LENG7|MGC102687|MGC131894|MGC16224|PTI1|eEF1A-1 protein-coding 1352976 EEF1A1P eukaryotic translation elongation factor 1 alpha 1 pseudogene 10830953 54054 NG_000926,AP000459 GDB:10796322 pseudo 1344814 EEF1A1P2 eukaryotic translation elongation factor 1 alpha 1 pseudogene 2 319112 NG_002494,AL160192 pseudo 1344342 EEF1A2 eukaryotic translation elongation factor 1 alpha 2 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. 1580863 17353931,17908984,17825975,17437010,17130842,17088255,16369491,16156888,15952740,15893736,15635413,15592455,15489334,14588074,12477932,12053177,12048193,11780052,10950927,8812466,8626763,8354261,7945283,812466,14743216 1917 NM_001958,AF163763,AL121829,CH471077,AB209064,BC000432,BC018855,BC110409,CR589974,CR592792,CR593279,CR597004,CR597303,CR600141,CR602821,CR604699,CR608520,CR613690,CR614088,CR616067,CR621513,CR622432,CR626229,CR626526,L10340,X70940 ABM85496,Q59GP5,NP_001949,AAF80488,CAC15522,EAW75259,EAW75260,BAD92301,AAH00432,AAI10410,AAA91835,CAA50280,Q05639 Hs.433839 GDB:574205 EEF1AL|EF-1-alpha-2|EF1A|HS1|STN protein-coding 1353677 EEF1A3 eukaryotic translation elongation factor 1 alpha 3 1918 GDB:9834654 1344884 EEF1AL1 eukaryotic translation elongation factor 1 alpha-like 1 8812466 1919 GDB:134714 1344455 EEF1AL10 eukaryotic translation elongation factor 1 alpha-like 10 8812466 1928 GDB:625811 1605294 EEF1AL11 eukaryotic translation elongation factor 1 alpha-like 11 10343093,8812466 133283 NG_002349,AC010491,AC010627 GDB:625812 pseudo 1345794 EEF1AL12 eukaryotic translation elongation factor 1 alpha-like 12 8812466 1930 GDB:625813 1343801 EEF1AL13 eukaryotic translation elongation factor 1 alpha-like 13 8812466 1931 GDB:625814 1354117 EEF1AL2 eukaryotic translation elongation factor 1 alpha-like 2 8812466 1920 GDB:625803 1349840 EEF1AL3 eukaryotic translation elongation factor 1 alpha-like 3 8812466 158078 NG_002350,AL593851 CAH73620,Q5VTE0 GDB:625804 pseudo 1347390 EEF1AL4 eukaryotic translation elongation factor 1 alpha-like 4 8812466 1922 GDB:625805 1352171 EEF1AL5 eukaryotic translation elongation factor 1 alpha-like 5 8812466 1923 GDB:625806 1349405 EEF1AL6 eukaryotic translation elongation factor 1 alpha-like 6 pseudogene 8812466 389179 NG_006547,AC068644 GDB:625807 pseudo 1351166 EEF1AL7 eukaryotic translation elongation factor 1 alpha-like 7 8812466 441032 NR_003586,AC004066,CR612101 Hs.512059 GDB:625808 pseudo 1342768 EEF1AL8 eukaryotic translation elongation factor 1 alpha-like 8 8812466 1926 GDB:625809 1345248 EEF1AL9 eukaryotic translation elongation factor 1 alpha-like 9 8812466 1927 GDB:625810 1605437 EEF1B1 eukaryotic translation elongation factor 1 beta 1 11597139,1710449 1932 NG_003045,AC025917 GDB:682447 EF1B pseudo 1322866 EEF1B2 eukaryotic translation elongation factor 1 beta 2 This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. 1580863 16169070,17353931,1886777,15189156,10368288,17081983,16341674,16189514,15815621,15489334,15345747,15341733,15302935,14729942,14623968,12477932,11829477,11597139,10094407,9407120,8573604,8547318,8250921,3169261,2556394,1710449,1286669,1286667,8743958 1933 NM_001959,NM_001037663,NM_021121,AC007383,CH471063,AK291910,BC000211,BC004931,BC029316,BC067787,BF669470,BM747256,BT007079,BU565415,BU627453,CR456825,CR596342,CR605644,CR612393,CR626082,CR626685,S81522,X60489,X60656 NP_001950,NP_001032752,NP_066944,AAY15062,EAW70381,EAW70382,BAF84599,AAH00211,AAH04931,AAH67787,AAP35742,CAG33106,CAA43019,CAA43063,P24534 Hs.421608 GDB:682589 EEF1B|EEF1B1|EF1B protein-coding 1349270 EEF1B3 eukaryotic translation elongation factor 1 beta 3 12920118,8250921 1934 NG_003038,AC104120,L26404 GDB:126414 BETA-3|EEF-1|EEF-1BETA5A|EEF1B pseudo 1345659 EEF1B4 eukaryotic translation elongation factor 1 beta 4 8250921 1935 GDB:683134 1323465 EEF1D eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit functions as guanine nucleotide exchange factor. It is reported that this subunit interacts with HIV-1 Tat, and thus it represses the translation of host-cell, but not HIV-1, mRNAs. Several alternatively spliced transcript variants have been found for this gene, however, the full length nature of only two variants has been determined. 1580863 17353931,12761501,15189156,10368288,8334168,17997862,17081983,16968546,16807684,16189514,16169070,16097034,15489334,15199388,15062873,14702039,14623968,12773547,12551973,12477932,12210501,11829477,10567582,10094407,9677419,9610721,9568107,9514931,9407120,9373149,9353277,8743958,8294461,8125298,8051108,3169261,2556394,2207149,2061327,14743216 1936 NM_001960,NM_032378,AC067930,CH471162,AF370363,AK024550,AK093756,AK225040,AK225243,AK225270,AL833379,BC000678,BC007847,BC009907,BC012819,BC062535,BC071840,BC094806,BT007242,CR597518,CR602809,CR612725,CR617003,CR626284,Z21507 NP_001951,NP_115754,EAW82227,EAW82228,EAW82229,EAW82230,EAW82231,EAW82232,EAW82233,EAW82234,EAW82235,AAQ15199,BAB14925,AAH00678,AAH07847,AAH09907,AAH12819,AAH62535,AAH94806,AAP35906,CAA79716,P29692,Q4VBZ6,Q71RH4,Q96I38,Q9BW34,Q9H7G6 Hs.333388 GDB:216099 EF-1D|FLJ20897|FP1047 protein-coding 1626259 EEF1DP1 eukaryotic translation elongation factor 1 delta pseudogene 1 11181995 126037 NG_006512,AC022098,CH471106 EAW84392 pseudo 1626262 EEF1DP2 eukaryotic translation elongation factor 1 delta pseudogene 2 442429 NG_006527,AL136981 KIAA0699 pseudo 1606432 EEF1DP3 eukaryotic translation elongation factor 1 delta pseudogene 3 16189514,12477932 196549 AC002525,AL833768,BC021729,BC125059,BC125060 CAH56242,AAI25060,AAI25061,Q08AR3,Q658K8,Q8WW17 Hs.507667,Hs.707049 MGC149669|MGC149670 pseudo 1626263 EEF1DP4 eukaryotic translation elongation factor 1 delta pseudogene 4 9847074 442325 NG_006526,AC073349 FLJ26697 pseudo 1626265 EEF1DP5 eukaryotic translation elongation factor 1 delta pseudogene 5 442258 NG_006525,AL080315 pseudo 1322308 EEF1E1 eukaryotic translation elongation factor 1 epsilon 1 1298632,1580863 15680327,15489334,14574404,12729910,12477932,11042152,9878398,9653160,1651330 1298632 9521 NM_004280,AL023694,AL355499,AL451187,CH471087,AB011079,AF054186,BC005291,BT007306,CR619920 NP_004271,CAH72539,CAI14747,EAW55227,BAA24926,AAC39916,AAH05291,AAP35970,O43324,ABM84428,ABW03577 Hs.631818 GDB:9957238 AIMP3|P18 protein-coding 1349957 EEF1G eukaryotic translation elongation factor 1 gamma This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. 1580863 16169070,17220478,15189156,10368288,17719568,17081983,16189514,15635413,15489334,15383276,15324660,15231748,14702039,12840015,12766415,12690205,10094407,9407120,7703850,1598220,1461723,1372736,12665801,12477932,11829477,11504921,10908348 1937 NM_001404,AP001363,AP002990,CH471076,AK092787,AK129569,AK129618,AK130026,AL556034,AY542307,AY687925,BC000384,BC006509,BC006520,BC007949,BC009865,BC013918,BC015813,BC018853,BC018857,BC019051,BC021974,BC024274,BC028179,BC031012,BC067738,BQ947806,BT006677,CR407625,CR590423,CR590671,CR591131,CR591934,CR594951,CR595222,CR596461,CR596725,CR597651,CR597680,CR598251,CR598661,CR599831,CR600927,CR601463,CR601494,CR601935,CR602729,CR603282,CR604713,CR605809,CR606680,CR609380,CR609825,CR612164,CR612182,CR615249,CR615632,CR616102,CR616112,CR618479,CR618988,CR619081,CR619371,CR622740,CR623674,CR625451,CR626157,CR626196,DQ185034,DQ185040,M55409,X63526,Z11531 Q2F840,Q53YD7,ABM82029,ABM85210,NP_001395,EAW74023,EAW74024,EAW74025,EAW74026,EAW74027,EAW74028,AAT08176,AAH00384,AAH06509,AAH06520,AAH07949,AAH09865,AAH13918,AAH15813,AAH28179,AAH31012,AAH67738,AAP35323,CAG28553,AAH21974,ABD14418,ABD14420,AAC18414,CAA45089,CAA77630,P26641,Q2F838 Hs.144835 GDB:133781 EF1G|GIG35 protein-coding 1343628 EEF2 eukaryotic translation elongation factor 2 This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. 1580863 17220478,15189156,17081983,16964243,16648488,16520893,16344560,16098202,16097034,15952740,15835887,15635413,15534876,15489334,15302935,14594813,12891704,12477932,12171600,8386634,8318952,6427766,3693353,3034518,2840927,2610926,2318846,1596361 1938 NM_001961,AC011488,AC016586,CH471139,AU118535,AY942181,BC006547,BC024689,BC126259,BC136313,CR596005,CR598660,CR602709,CR608809,CR616093,M19997,X51466,Z11692 NP_001952,EAW69274,EAW69275,AAX34409,AAH06547,AAH24689,AAI26260,AAI36314,AAA50388,CAA35829,CAA77750,P13639,Q6PK56,Q8TA90 Hs.515070 GDB:119104 EEF-2|EF2 protein-coding 1351780 EEF2K eukaryotic elongation factor-2 kinase This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. 728634,1580863 9144159,15809305,18337751,17081983,16964243,16921268,16344560,16098202,15144186,15024086,14709557,14702039,12477932,12171600,12107410,12051769,11500364,11500363,11171059,11015200,8386634,3693353 728634 29904 NM_013302,AC009034,CH471249,AK022569,AW675420,BC032665,CA397138,CR621051,DA556486,DA735877,U93850 NP_037434,EAW50604,AAH32665,AAB58270,O00418,Q8N588,ABM81822,ABM84976 Hs.498892 HSU93850|MGC45041|eEF-2K protein-coding 1604801 EEFSEC eukaryotic elongation factor, selenocysteine-tRNA-specific 16641997,15229221,12477932,10970870 60678 NM_021937,AL449210,AL449214,AL449217,CH471052,AF268872,BC007933,BG420135,CR596126 NP_068756,EAW79322,AAG13375,AAH07933,P57772,Q96HZ6,ABM84184,ABM87586 Hs.477498 EFSEC|SELB protein-coding 1344802 EEGV1 electro-encephalographic variant pattern 1 1346390 1940 GDB:127525 1606501 EEPD1 endonuclease/exonuclease/phosphatase family domain containing 1 14702039,12690205,12477932,11214970 80820 NM_030636,AC007327,AC078841,CH236951,CH471073,AB051493,AF161370,AK027386,BC011692,BC065518,DN998549 NP_085139,EAL23976,EAW94063,BAB21797,AAF28930,BAB55076,AAH65518,Q7L9B9,Q9P0C9 Hs.487994,Hs.670591 HSPC107|KIAA1706 protein-coding 1603006 EFCAB1 EF-hand calcium binding domain 1 15489334,14702039,12477932 79645 NM_024593,AC022915,CH471068,AK021829,BC025676,BC029586 NP_078869,EAW86692,EAW86693,EAW86694,EAW86695,EAW86696,EAW86697,EAW86698,BAB13906,AAH25676,Q9HAE3 Hs.23245 FLJ11767 protein-coding 1604261 EFCAB2 EF-hand calcium binding domain 2 16710414,15489334,14702039,12477932 84288 NM_032328,AL356512,AL589763,AB209286,AK001393,AK090927,BC005357 NP_115704,CAH72043,CAH72044,CAH72045,CAH72046,CAH72047,BAD92523,AAH05357,Q5VUJ8,Q5VUJ9,Q5VUK0 Hs.709583 FLJ33608|MGC12458|RP11-290P14.1 protein-coding 1603895 EFCAB3 EF-hand calcium binding domain 3 15489334,14702039,12477932 146779 BC101752,BC101778,NM_173503,AC008026,AC053481,CH471109,AK098684 BAC05376,AAI01753,AAI01779,Q8N7B9,NP_775774,EAW94354 Hs.152670 FLJ25818|MGC126801|MGC126827 protein-coding 1603869 EFCAB4A EF-hand calcium binding domain 4A 16344560,15489334,14702039,12477932 283229 NM_173584,NG_007478,AP006621,CH471158,CQ783262,AK075180,AK097334,AK127926,BC033196,BC073821,BG674461,BU621015,BX104079,DA967563,DB161031,DN997084 NP_775855,EAX02397,EAX02398,EAX02399,CAF86467,BAC11455,BAC05001,BAC87194,AAH33196,AAH73821,Q6ZRW4,Q8N4Y2,Q8N851 Hs.660936 FLJ46033|MGC45840|MGC88858 protein-coding 1603191 EFCAB4B EF-hand calcium binding domain 4B 16713569,16189514,15489334,14702039,12477932 84766 NM_032680,AC005831,AC006207,CH471116,AK091124,BC004524 NP_116069,EAW88858,EAW88859,EAW88860,AAH04524,Q9BSW2 Hs.504534 FLJ33805|MGC4266 protein-coding 1606096 EFCAB5 EF-hand calcium binding domain 5 16344560,12477932,10737800 374786 AL833911,BC110608,BC110609,BC119807,BC137519,BQ293162,BX648689,DB076773,NM_198529,AC104982,AC104984,AC104996,AK128126 CAD38767,AAI10609,AAI10610,AAI19808,AAI37520,A4FU69,NP_940931,BAC87284 Hs.662411 DKFZp434G2420|DKFZp686I0638|FLJ46247 protein-coding 1601856 EFCAB6 EF-hand calcium binding domain 6 12529303,15489334,14702039,12612053,12477932,11258795,10591208,9373149,8125298 64800 NM_198856,NM_022785,AL023801,AL031843,AL118498,AB051459,AB073862,AK027241,AK058069,AK225596,AK225605,AK292411,AK292498,AL355841,AW139921,BC039315,CD106996,Y10776 NP_942153,NP_073622,BAB33342,BAB71780,BAB15703,BAF85100,BAF85187,CAB91065,AAH39315,CAA71749,Q5THR3,Q9NQ18 Hs.658996 DJBP|FLJ23588|HSCBCIP1|KIAA1672|dJ185D5.1 protein-coding 1603602 EFCAB7 EF-hand calcium binding domain 7 16381901,15489336,14702039,12477932,11347906,11076863 84455 NM_032437,AL109925,BX004807,CH471059,AB058702,AK092219,AK292220,AK315850,AL833720,BC015814 NP_115813,EAX06568,EAX06569,EAX06570,BAB47428,BAF84909,BAF98741,CAH56237,AAH15814,A8K855,Q9NTY3,CAL37517,CAL37663,CAL37970,CAL38255 Hs.652324 DKFZp666D225|KIAA1799|RP4-534K7.1 protein-coding 1318351 EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1 This gene spans approximately 18 kb of genomic DNA and consists of 12 exons. Alternative splice patterns in the 5' UTR result in three transcript variants encoding the same extracellular matrix protein. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. 1598888,1580863 18188955,17671114,17666404,16713569,16189514,15965961,15489334,15218514,15123717,14702039,14578376,12477932,12427233,12242346,11389162,11384588,11262647,10982184,10601734,8889548,8812496,8573024,7799918,12620389,10369267 1598888 2202 NM_001039349,NM_001039348,NM_004105,AC010895,AC096549,AY004330,CH471053,CS161052,AA704122,AI472137,AK092854,AK290599,AK293058,AL703474,BC014410,BC098561,BU542044,BU683304,BX475672,CR590528,CR595300,CR604757,CR607072,CR611721,CR620563,U03877,AB209212 NP_001034438,NP_001034437,NP_004096,AAY14669,AAX81993,AAK11491,EAX00080,EAX00081,EAX00082,CAJ30876,BAF83288,BAF85747,AAH14410,AAH98561,AAA65590,Q12805,Q580Q6,Q59G97,BAD92449,ABM83440,ABM86654,Q53TA7 Hs.76224 GDB:1220111 DHRD|DRAD|FBLN3|FBNL|FLJ35535|MGC111353|MLVT|MTLV|S1-5 protein-coding 1349728 EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2 A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein described here contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is widely expressed in a range of adult and fetal tissues. 1580863 10601734,16189514,17255108,16685658,16554811,16493080,16303743,15489334,14702039,12975309,12477932,12107411,11231014,10982184,10380882 30008 AB209121,NM_016938,AP001201,CH471076,AB030655,AF093119,AF109121,AF124486,AJ132819,AK000980,AK075453,AK095794,AK098186,AK292079,AY358899,BC010456,BC018871,BC109225,BQ478413,BQ639195,CB050184,CR541934,CR591283,CR592098,CR601268,CR602603,CR605879,CR606619,CR611399,CR622183,CR625487 Q96TF5,Q9H3D5,BAD92358,ABM82973,ABM86167,Q6FH22,NP_058634,EAW74455,EAW74456,EAW74457,EAW74458,EAW74459,EAW74460,EAW74461,EAW74462,BAA92880,AAC62108,AAF65188,AAG45245,CAA10791,BAF84768,AAQ89258,AAH10456,CAG46732,O95967,Q59GI8 Hs.647231 GDB:9957528 FBLN4|MBP1|UPH1 protein-coding 1353196 EFHA1 EF-hand domain family, member A1 1580863 15489334,15057823,14702039,12826745,12477932,11124993,9205841 221154 NM_152726,AK057745,AK091907,BC031089,BC034965,CR600850,CR611783,CR613170,CR613308,AL136219,AL138680,CH471075 NP_689939,EAX08313,BAC03769,AAH31089,AAH34965,Q5W0Q8,Q8IYU8,CAH70594,CAH70136,EAX08312 Hs.412103 1110008L20Rik|FLJ25016|FLJ34588 ef hand domain family, member a1 protein-coding 1344142 EFHA2 EF-hand domain family, member A2 737633,1580863 15489334,12477932 737633 286097 NM_181723,AC079193,AC136305,CH471080,AL833419,BC032868,BC045553 NP_859074,EAW63826,EAW63827,AAH32868,AAH45553,Q86XE3 Hs.403594 DKFZp313A0139 protein-coding 1349676 EFHB EF-hand domain family, member B 737633,1580863 15489334,14702039,12477932 737633 151651 NM_144715,AC104182,CH471055,AK057929,AK097644,AK122616,BC028198 NP_653316,EAW64299,EAW64300,BAB71614,BAC05131,BAC85491,AAH28198,Q8N7U6 Hs.670883 FLJ25200 ef hand domain family, member b protein-coding 1317534 EFHC1 EF-hand domain (C-terminal) containing 1 17972043,17634063,17159113,17054699,16839746,16824517,16378686,16344560,16189514,15489334,15258581,14702039,14582146,14574404,12477932,9373149,9305351,8737649,8125298 114327 AL049611,AL136125,CH471081,CS185610,AK001328,AK094609,AK225543,AL122084,AY608689,AY608690,BC012921,BC020210,BQ270560,CR606154,DA906669,EU520261,NM_018100 NP_060570,CAI19693,CAI20107,EAX04370,EAX04371,EAX04372,CAJ42791,BAA91628,AAT67418,AAT67419,AAH20210,ACB20691,Q5JVL4,ABM83096,ABM86290 Hs.403171 GDB:119864,GDB:11508850 EJM|EJM1|FLJ10466|FLJ37290|JAE|dJ304B14.2 protein-coding 1348000 EFHC2 EF-hand domain (C-terminal) containing 2 1580863 17948898,17164267,16112844,15772651,15489334,14702039,12477932 80258 AK026254,AK026496,AK291187,AK292967,BC031039,CR749363,DC331145,NM_025184,AC018719,AL133344,AL359744,CH471141 EAW59375,BAB15413,BAB15492,BAF83876,BAF85656,AAH31039,CAH18216,Q5JST6,Q5JST7,Q9H5X5,NP_079460,EAW59372,EAW59373,EAW59374 Hs.521953 DKFZp686G08235|FLJ22601|FLJ22843|dJ1158H2.1 protein-coding 1350827 EFHD1 EF-hand domain family, member D1 EFHD1 is an EF-hand domain-containing protein that displays increased expression during neuronal differentiation (Tominaga and Tomooka, 2002 [PubMed 12270117]).[supplied by OMIM] 1580863 17353931,15498874,15489334,14702039,12477932,12270117 80303 NM_025202,AC064852,AC073254,CH471063,AB209715,AF176923,AF193044,AF218006,AK023674,BC002449,BC004128,BC035476,BC071886,CR597707,CR599516,CR599551,CR601176,CR603402,CR611215,CR616869,CR620373,CR624361,CR627385 NP_079478,AAX93189,AAX93178,EAW71013,EAW71014,EAW71015,BAD92952,AAQ13667,AAG22472,AAG17248,BAB14634,AAH02449,AAH04128,CAH10481,Q53S38,Q53SA2,Q59EU6,Q7Z2R5,Q8WYH2,Q9BUP0 Hs.516769,Hs.708346 DKFZp781H0842|FLJ13612|MST133|MSTP133|PP3051 protein-coding 1316863 EFHD2 EF-hand domain family, member D2 1580863 17081983,16964243,15489334,15274114,12477932,11788997 79180 NM_024329,AL031283,CH471167,BC003033,BC007233,BC013648,BC014923,BC023611,BC068473,CR591260,CR608847,CR616014 NP_077305,CAI21431,CAI21432,EAW51720,EAW51721,EAW51722,EAW51723,AAH03033,AAH07233,AAH13648,AAH14923,AAH23611,AAH68473,Q96C19,Q9BTY8 Hs.465374 MGC4342|RP3-467K16.3 protein-coding 1349722 EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) 5116697 1941 GDB:6099558 730990 EFNA1 ephrin-A1 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. 1304509,1299268 2233719,8660976,17980912,17332925,17049832,16710414,16428472,16239146,16169070,16051609,15649254,15585656,15489334,15340161,15193868,14707054,14692877,12794130,12496371,12496364,12477932,11519828,11278560,11256076,11128993,10730216,10515610,10502115,10341214,10207129,9693361,9576626,9530499,9267020,8755474,8542290,8070404,7973638,7838529,7619809,16189514 1304509,1299268 1942 NM_004428,NM_182685,AL691442,CH471121,AK057845,AK289589,AL833641,AW274944,BC032698,BC095432,CR457416,CR590213,CR592327,CR592371,CR594624,CR599087,CR601482,CR601554,CR607258,CR607272,CR607956,CR609396,CR612531,CR614760,CR614778,CR615466,CR616575,CR616999,CR618297,CR620274,CR620399,CR624007,CR624077,CR625806,CR626241,CR626798,M57730 NP_004419,NP_872626,CAI15319,CAI15320,EAW53131,EAW53132,EAW53133,EAW53134,EAW53135,BAF82278,AAH32698,AAH95432,CAG33697,AAA58388,P20827,ABM81648,ABM84826 Hs.516664 GDB:135170 B61|ECKLG|EFL1|EPLG1|LERK1|TNFAIP4 protein-coding 1314277 EFNA2 ephrin-A2 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. 1580863 9826538,17878388,16540516,16158060,15057824,12421992,11884456,11860487,11256076,11128993,10958785,10730216,10531456,10207129,9751130,9576626,9530499,9465306,9267020,8755474,12659632 1943 NM_001405,AC004258,AC005330,CH471139,U92896,AJ007292 NP_001396,AAC04896,AAG16277,EAW69517,AAC39577,CAA07435,O43921,Q9HCB5,AAI46279,AAI48728 Hs.532655 GDB:568752 ELF-1|EPLG6|HEK7-L|LERK6 protein-coding 1352863 EFNA3 ephrin-A3 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. 1580863 8660976,17980912,16710414,15901737,15489334,12907451,12496762,12477932,11256076,11128993,10730216,10516308,10366629,10207129,9576626,9530499,9267020,7973638,7838529,8755474 1944 NM_004952,AL691442,CH471121,BC017722,BC110406,BU633345,CR597504,CR607482,L37360,U14187 NP_004943,CAI15318,EAW53136,EAW53137,AAH17722,AAI10407,AAA52368,AAC50078,P52797,ABM82594,ABM85780 Hs.516656 GDB:438336 EFL2|EPLG3|Ehk1-L|LERK3 protein-coding 1317216 EFNA4 ephrin-A4 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. 8660976,16710414,16540516,15489334,15340161,12477932,12209731,12107412,12030849,11128993,10730216,10607706,10515610,10366629,10207129,9576626,9530499,9267020,8755474,7838529,11256076 1945 NM_005227,NM_182690,NM_182689,AJ320547,AL691442,CH471121,AI459151,AI625552,AJ006352,AJ006353,BC042610,BC107483,BE780161,BM740848,BM747625,BQ940212,CD671399,CR533569,U14188 NP_005218,NP_872632,NP_872631,CAC48189,CAI15316,CAI15317,EAW53138,EAW53139,EAW53140,CAA06992,CAA06993,AAI07484,CAG38600,AAC50079,P52798,Q5SR71 Hs.449913,Hs.639422 GDB:438337 EFL4|EPLG4|LERK4|MGC125826 protein-coding 1350398 EFNA5 ephrin-A5 Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. 1580863 9245480,17991426,15901737,15489334,10730216,10601038,10531456,10366629,10207129,9751130,9576626,9530499,9267020,9195962,8755474,8661153,7748564,15107857,12477932,11416136,11256076,11128993 1946 NM_001962,AC008796,AC008800,AC008952,AC010227,AC011349,AC024587,CH471086,BC075054,BC075055,U26403 NP_001953,EAW49063,EAW49064,EAW49065,AAH75054,AAH75055,AAB60377,P52803 Hs.658451 GDB:568757 AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS protein-coding 737327 EFNB1 ephrin-B1 The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. 1599802,1580863,1304509,727396 8798744,9883737,8660976,18314490,18043713,17942634,17906625,17591954,17567680,17204606,16526919,15959873,15772651,15725075,15489334,15351694,15340161,15166289,15124102,14988728,14642617,14576067,12919674,12477932,12475948,12209731,12136247,12084815,11557983,11466320,11301003,11256076,11128993,10730216,10669731,10207129,10197531,9920925,9576626,9530499,9302274,9267020,8889548,8878483,8070404,7973638,7774950,12384430,12223469,16189514,8755474 1599802,1304509,727396 1947 NM_004429,AL136092,CH471132,BC016649,BC052979,BM972960,BU172498,CB132233,CR598339,L37361,U09303,U09304 NP_004420,CAB86409,EAX05370,EAX05371,AAH16649,AAH52979,AAA52369,AAB41127,AAA53093,P98172,ABM82743,ABM85931 Hs.144700 GDB:438335 CFND|CFNS|EFL3|EPLG2|Elk-L|LERK2|MGC8782 ephrin b1 protein-coding 1319867 EFNB2 ephrin-B2 This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. 1580863 8559144,9630219,8660976,18231102,17611172,17380111,17204606,17196593,17167981,17123494,16867992,16430858,16357318,16343615,16007075,15998730,15996027,15951569,15764601,15745950,15718372,15489334,15471957,15458844,15193868,15126321,15083195,15057823,15047175,14499344,12761826,12734395,12477932,12206665,12136247,12051776,11983165,11920461,11780069,11256076,11128993,10730216,10648835,10473577,10207129,10066262,9920925,9883737,9718367,9576626,9533549,9530499,9267020,8878483,7833926,7534404,11152476,8755474 1948 NM_004093,AJ563723,AL138689,CH471085,BC069342,BC074856,BC074857,BC105955,BC105956,BC105957,BG741114,BQ433342,BQ708550,BU622947,CB998384,CR609389,L38734,T23731,U16797,U81262 NP_004084,CAD91556,CAI39906,CAI39907,EAX09085,AAH69342,AAH74856,AAH74857,AAI05956,AAI05957,AAI05958,AAC41752,AAA99707,AAD03786,P52799,Q2PDH7,Q5JV57 Hs.149239 GDB:438338 EPLG5|HTKL|Htk-L|LERK5|MGC126226|MGC126227|MGC126228 protein-coding 1346330 EFNB3 ephrin-B3 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. 1580863 8808709,9126477,18057206,16951161,16477309,15489334,15340161,15047175,14702039,12477932,12383247,11920461,11256076,11128993,10730216,10207129,10197531,9576626,9530499,9484836,9267020 1949 NM_001406,AC087388,CH471108,AI346983,AK027329,BC022499,BC042944,BQ892951,U57001,U62775,U66406 NP_001397,EAW90133,EAW90134,EAW90135,AAH22499,AAH42944,AAB05170,AAC50707,AAC51203,Q15768 Hs.26988 GDB:1220130 EFL6|EPLG8|LERK8 protein-coding 1604382 EFR3A EFR3 homolog A (S. cerevisiae) 15489334,15363888,12477932,8590280 23167 NM_015137,AC092817,CH471060,BC037910,BC047323,BC071611,BC108667,BC131486,BC152442,BX648595,CR749243,D63477 NP_055952,EAW92138,AAH47323,AAH71611,AAI08668,AAI31487,AAI52443,CAH56143,CAH18099,BAA09764,Q14156 Hs.204564 DKFZp781J0562|KIAA0143 protein-coding 1602224 EFR3B EFR3 homolog B (S. cerevisiae) 14702039,12477932,10231032 22979 XM_039733,XM_940464,XM_001717587,AC012457,AC013267,AB023170,AK095190,BC049384 XP_039733,XP_945557,XP_001717639,AAY24353,BAA76797,AAH49384,Q9Y2G0 Hs.654648 GDB:9957811 KIAA0953 protein-coding 1319047 EFS embryonal Fyn-associated substrate The protein encoded by this gene contains a SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to be able to bind to SH3 domain of protein-tyrosine kinases. The function of this gene is unknown. Two alternatively spliced variants have been described. 1580863 9349509,16189514,15489334,12477932,9750131,9748319 10278 NM_032459,NM_005864,AL049829,CH471078,AB001466,AB001467,AI808817,BC034246,BC046403,BE645250,CR594928 NP_115835,NP_005855,EAW66163,EAW66164,BAA24588,BAA24589,AAH34246,O43281 Hs.24587 CAS3|CASS3|EFS1|EFS2|HEFS|SIN protein-coding 1352796 EFTUD1 elongation factor Tu GTP binding domain containing 1 737633,1580863 16344560,14702039,12477932,11329013 737633 79631 NM_001040610,NM_024580,AC026624,AC026956,CH471136,AK023181,AK056656,BC014628,BC041565,BG204990,BX538332,CR596629,CR602608,DA260259 NP_001035700,NP_078856,EAW99087,EAW99088,EAW99089,BAB14450,CAD98101,Q7Z2Z2,Q7Z754,AAI52911,AAI56744 Hs.459114 FAM42A|FLJ13119|HsT19294|RIA1 protein-coding 1606577 EFTUD2 elongation factor Tu GTP binding domain containing 2 9233818,9774689,17314511,17353931,12226669,17081983,16247014,15635413,15489334,15302935,14559993,12477932,12456665,12403470,11991638,10788320,9373149,8125298,7584028,7584026,15146077 9343 AJ505017,AK126193,AK126464,AK126652,AK128148,AK225335,AK293108,BC002360,BX647305,CR456774,D21163,NM_004247,AC015936,CH471178 CAD43720,BAF85797,AAH02360,CAG33055,BAA04699,Q15029,Q6IBM8,Q8IXJ3,ABM85527,ABW03758,NP_004238,EAW51573,EAW51574 Hs.151787 DKFZp686E24196|FLJ44695|KIAA0031|Snrp116|Snu114|U5-116KD protein-coding 736832 EGF epidermal growth factor (beta-urogastrone) Epidermal growth factor has a profound effect on the differentiation of specific cells in vivo and is a potent mitogenic factor for a variety of cultured cells of both ectodermal and mesodermal origin. The EGF precursor is believed to exist as a membrane-bound molecule which is proteolytically cleaved to generate the 53-amino acid peptide hormone that stimulates cells to divide. 1580863,1626483 9712850,15611079,12620237,9482941,10559227,1501243,6603475,8493579,8639530,8845374,9356464,9544989,10567358,10648629,10734310,10913131,11823423,11894095,12218189,12593796,14560030,14665621,15475003,15574420,15962011,16407834,3491360,18483390,18398039,18382118,18349392,18271972,18212060,18167406,18156174,18096367,18094008,18088275,18036246,18006148,17991733,17991726,12960147,12954631,12879019,12795334,12788694,12768436,12722480,12672817,12667326,12643788,12637502,12540376,12531699,12508124,12477932,12425525,12397374,12388817,12368284,12202942,12192610,12163506,12163055,12141529,12138086,12093292,12009575,11994282,11971908,11950840,11925427,11914075,11903419,11896055,11844511,11796824,11751923,14507446,16584205,16436184,16428382,16413767,16407418,16344560,16332692,16316319,16282324,16274250,16248985,16214932,16210470,16134968,16115648,16033767,16019439,15982634,15950078,15913871,15901830,15886816,15860930,15802268,15798095,15748906,15735691,15729146,15675968,15663953,15659382,15622242,15613483,15536154,15509542,15491342,15489334,15488707,15485674,15485655,15481560,15373802,15373782,15373781,15329330,15272014,15260478,15256384,15194442,15192046,15183666,15180992,15175028,15129177,15087376,15081423,15063762,15003992,14676838,14662770,14651960,14614718,14523024,14520709,16636672,17962208,17950068,17943082,17940864,17912028,17898861,17851837,17762162,17673689,17661145,17986122,17635109,17968796,17626784,17617058,17612563,17578349,17573555,17567965,17562024,17545148,17479438,17473192,17453000,17433039,17397984,17392355,17334773,17316357,17311928,17227756,17223314,17204151,17175377,17123472,16979250,16969495,16946702,16939220,16885506,16872636,16847055,16837648,16820871,16788380,16762922,16728406,16691190,11438527,10973965,10788520,10748174,10579352,10436156,10199559,9925763,9661876,9188692,8796265,8419140,8123596,8077234,7736574,7730382,7640657,7615511,7558411,7540053,6382023,6304537,6290982,3486749,2790960,2789514,1658709,1639032,1522591,1334406,1281549,300079,9687510,15252009,15950906,15837620,8413296 1626483 1950 NM_001963,AC004050,AC005509,AF023155,CH471057,AI628974,AY548762,BC093731,BC113461,CU446298,DB227969,DB349864,X04571 NP_001954,EAX06257,AAS83395,AAH93731,AAI13462,CAA28240,P01133,Q6QBS2,AAA72173 Hs.419815 GDB:119105 HOMG4|URG epidermal growth factor protein-coding 1352088 EGFL10 EGF-like-domain, multiple 10 727966 XM_001717769,XM_001126128,AL109922,AL137007,AL450324,AL450394 XP_001717821,XP_001126128,CAI20452,CAI20453,CAC10575,CAI13283,Q5T1H1 bA307F22.3 protein-coding 1343004 EGFL11 EGF-like-domain, multiple 11 12975309,12477932 346007 NM_198283,AL109612,AL132767,AL353153,AL365217,AL589916,AY358133,BC133011,BC133013,BX537914,BX647741 NP_938024,CAI18881,CAM27006,CAI22904,CAM28320,CAI16606,CAM23289,CAI12362,CAI12363,CAM13294,AAQ88500,AAI33012,AAI33014,Q5SZM4,Q5SZM5,Q5T3C9,Q5TEW6,Q6UY05 Hs.453441 C6orf180|KIAA0663|bA166P24.2|dJ1018A4.2 protein-coding 1354247 EGFL6 EGF-like-domain, multiple 6 This gene encodes a member of the epidermal growth factor (EGF) repeat superfamily. Members of this superfamily are characterized by the presence of EGF-like repeats and are often involved in the regulation of cell cycle, proliferation, and developmental processes. The gene product contains a signal peptide, suggesting that it is secreted; an EGF repeat region consisting of 4 complete EGF-like repeats and 1 partial EGF-like repeat, 3 of which have a calcium-binding consensus sequence; an arg-gly-asp integrin association motif; and a MAM domain, which is believed to have an adhesive function. This gene is expressed early during development, and its expression has been detected in lung and meningioma tumors. 1580863 10610727,16303743,12975309,12477932,10777661 25975 NM_015507,AC079383,CH471074,AF186084,AF193055,AJ245671,AK075214,AL117610,AY358333,BC038587,CR592837,CR594559,CR596854,CR606548,CR610929,CR614169 NP_056322,EAW98821,EAW98822,AAF27812,AAG22483,CAB92132,BAC11477,CAB56014,AAQ88699,AAH38587,Q8IUX8,ABM81864 Hs.12844 GDB:10795889 DKFZp564P2063|MAEG|W80 protein-coding 1602888 EGFL7 EGF-like-domain, multiple 7 17934064,16713569,15489334,15164053,15085134,14702039,14592969,12975309,12477932 51162 NM_016215,AL590226,CH471090,AB125649,AF186111,AK091964,AL512735,AY358901,AY358902,AY358903,NM_201446,BC012377,BC088371,BX361374,BX647866,CR593160,CR593184,CR594154,CR599039,CR600602,CR609259,CR609845,CR611472,CR615335,CR616630 NP_958854,NP_057299,CAH71721,EAW88244,EAW88245,EAW88246,EAW88247,EAW88248,BAD01469,AAF01429,CAC21666,AAQ89260,AAQ89261,AAQ89262,AAH12377,AAH88371,Q9UHF1 Hs.91481 MGC111117|RP11-251M1.2|VE-STATIN|ZNEU1 protein-coding 1347289 EGFL8 EGF-like-domain, multiple 8 15489334,15340161,14656967,14574404,12975309,12477932 80864 AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89336,NM_030652,AB190520,AK126457,AY358139,BC035574,BC052591,CR625361 NP_085155,CAI18345,CAM25646,CAI41800,CAI41801,CAM26220,CAQ06592,EAX03598,CAQ10696,CAQ09621,AAB47494,BAD51398,AAQ88506,AAH35574,AAH52591,Q99944 Hs.332138 C6orf8|FLJ44493|MGC44938|MGC59719|NG3 protein-coding 1602070 EGFLAM EGF-like, fibronectin type III and laminin G domains 14702039,12477932 133584 NM_152403,NM_182798,NM_182799,NM_182801,AC010338,AC010351,AC010457,AC091839,CH471119,AK092479,AK092994,AK096474,AK097549,AK291602,AL832269,AL833357,BC031251,BC033177,BC033188,BC063822,BM928177,BX647551 NP_689616,NP_877950,NP_877951,NP_877953,EAW55966,EAW55967,EAW55968,EAW55969,EAW55970,BAC03900,BAC04013,BAC04800,BAC05096,BAF84291,AAH31251,AAH33177,AAH33188,AAH63822,CAH56137,Q63HQ2 Hs.20103 AGRINL|AGRNL|FLJ39155 protein-coding 69152 EGFR epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. 1298665,1580956,1580957,1580953,1580954,1580955,1581898,734918,1581905,734919,1580863,1581912,1601010,2289947,2289949,2289943,2289979,2289955,2289980,2289950,2289951 15542601,14702346,6325948,12435727,2790960,16777603,12828935,10572067,7736574,12925580,15082764,12646923,9103388,8493579,8639530,8845374,9356464,9544989,10567358,10648629,10734310,10913131,11823423,11894095,12218189,12593796,14560030,14665621,15475003,15574420,15962011,16407834,15465819,18478265,18464244,18458038,18450321,18448998,18443966,18418018,18413774,18381415,18379359,18379357,18355544,18349392,16646071,16642476,16641105,16637508,16629834,16622417,16614884,16609045,16609018,16597832,16596194,16596188,16584205,16574793,16574647,16571657,16569667,16567021,16565089,16555991,16554736,16552725,16552419,16551849,16545487,16543231,16543144,16533793,16531225,16525633,16524971,16524970,16521222,16514409,16507511,16505411,16503086,16648628,15982634,15967120,15967033,15963982,15956035,15951569,15950906,15923435,15921680,15920544,15913841,15901872,15897877,15896781,15870435,15855163,15844661,15837743,15829704,15829568,15829495,15828871,15815931,15798095,15797859,15791567,15788655,15784896,15772959,15767552,15755902,15749523,15748904,15746034,15741570,15738541,15736426,15735700,15735691,15728811,15710947,15709185,15708852,15705969,15701973,15701846,15672448,15665312,15665299,15665278,15657358,15657067,15652750,15652339,15635092,15623594,15621729,15618223,15592685,14679214,14676838,14670955,14660604,14647423,14632199,14607699,14592989,14557654,14551192,14530278,14520461,14512423,14507652,14506242,14506149,13679857,13679441,12955084,12954170,12953099,12953068,12939263,12930839,12919676,12900408,12897150,12879076,12878187,12873986,12871937,12853948,12844146,12829707,12825853,12824187,12819035,12817007,12814937,12795333,12794748,12782602,12768436,12757445,12754350,12399475,12397069,12388817,12381737,12354760,12354693,12297050,12297049,12243760,12234920,12223352,12198159,12192610,12181310,12180964,12177062,12167618,12161422,12153558,12152785,12147707,12135609,12134089,12134064,12133497,12127695,12127568,12105206,12099696,12099646,12095417,12093292,12093135,18334834,18325048,18317468,18317076,18317075,18317074,18317068,18313398,18309947,18307993,18307254,18303429,18294142,18285671,18283321,18281516,18271929,18269588,18263768,18262180,18261621,18261460,18245470,18240930,18239063,18234969,18227705,18216322,18211286,18208805,18208799,18202784,18199957,18199554,18199332,18186961,18186271,18182111,18180459,18176089,18172732,18172267,18161656,18154814,18154448,18097577,18093943,18089823,18089646,18087285,18084281,18083120,18067636,18060032,18057028,18045646,18045238,18032824,18032821,18028876,18025312,18025070,18006781,18000506,17998090,17991782,17989321,17974918,17514628,17510392,17509661,17508947,17505415,17504988,17495959,17493236,17493174,17487844,17487398,17487277,17486068,17482563,17475774,17475671,17473659,17473658,17469127,17462600,17459062,17455987,17455141,17453416,17453292,17453000,17448597,17448210,17440163,17431415,17431338,17429313,17425591,17409930,17409866,17409862,17409827,17403676,17390112,17390041,17387341,17381163,17375033,17373877,17372273,17369752,17368623,17362940,17354229,17349623,17339338,17339316,17337084,17335953,17334773,17332501,17328268,17321325,17320820,17320394,17311890,17311283,17310847,17307332,17307140,17303584,17295209,17290443,17289890,17285735,17285540,17516110,17285230,17284372,17261767,17255257,17238183,17237147,17234718,17228128,17227773,17227756,17227303,17224267,17223314,17219440,17215517,17214962,17211865,17210462,17203167,17203166,17200338,17196962,17192902,17192792,17192257,17186532,17183836,17182860,17178880,17177839,17177598,17175376,17164758,17158592,17157295,17149366,17148776,17148666,17146284,17143531,17143527,17142315,17142003,17130473,17126326,17121848,17112774,17111374,17106442,17102595,17092939,17092854,17081983,17062641,17060486,17054433,17053785,17052295,17047316,17023689,17018617,17016520,16984414,16983337,16980555,16979526,16970944,16969069,16968809,16964397,16956694,16937526,16936259,16923119,16914641,16912195,16912157,16904111,16899617,16885506,16870303,16859684,16857803,16849327,16847054,16845329,16842869,16835231,16820093,16818686,16815198,16806170,16803894,16799709,16795991,16788982,16788380,16786197,16785991,16778986,16757132,16750403,16741920,16738552,16735510,16729043,16715136,16707764,16702519,16702213,16687414,16685454,16685269,16683917,16489645,16488447,16478662,16472761,16467097,16467085,16461080,16453019,16449241,16445385,16443754,16424381,16424019,16414009,16407214,16401639,16398612,16397024,16382132,16376942,16373414,16355407,16353237,16353158,16344724,16344560,16331686,16324836,16322287,16319309,16318625,16314000,16305343,16303044,16299810,16293617,16282324,16278407,16278215,16275144,16273187,16263724,16263120,16258541,16246327,16243431,16242075,16240846,16240219,16237757,16226114,16213893,16203769,16200342,16199108,16198442,16184431,16161046,16152581,16151725,16144838,16140940,16140420,16126727,16115866,16109531,16105874,16105029,16103736,16103229,16098254,16098054,16097034,16083266,16082153,16077899,16061871,16052218,16043828,16037379,16033132,16032426,16030116,16018936,16011858,16010411,16003726,16002952,16000298,15998907,15994331,15994311,15986432,16503085,12754251,12746839,12746449,12743604,12734385,12733059,12725245,12722480,12719950,12708492,12708474,12704666,12694196,12686539,12683217,12681285,12673202,12664617,12657642,12654182,12653106,12643788,12642595,12637327,12631599,12620237,12615082,12614260,12607604,12606946,12606307,12604776,12603863,12601080,12588871,12586780,12586732,12582944,12579331,12577067,12573287,12568494,12560083,12556561,12543931,12534934,12534349,12532415,12527890,12522133,12522132,12517803,12517767,12508124,12488461,12487410,12479108,12477932,12456372,12454019,12446727,12444032,12429742,12429632,12419588,15590694,15588985,15581623,15580296,15572377,15562026,15556944,15556605,15545271,15541730,15540509,15524283,15522239,15519654,15494003,15485674,15469991,15469987,15467833,15447984,15389641,15389569,15383630,15366372,15364923,15358139,15342520,15340161,15337756,15337524,15335267,15329413,15322115,15302935,15302576,15300588,15298855,15284455,15282549,15282306,15271882,15269346,15254682,15254267,15253384,15253134,15248827,15245434,15233293,15226397,15225635,15221011,15219850,15219825,15215236,15213840,15211117,15205458,15192046,15185528,15182358,15166495,15166244,15144186,15143334,15134305,15123705,15118125,15118073,15100232,15082004,15063762,15057284,15054105,15042583,15039424,15031710,15026342,15010475,15009100,14996911,14988406,14978035,14977838,14977086,14963038,14960328,14764825,14734462,14729599,14718570,14711810,14704150,14701753,14690686,14688027,14681060,17972518,17964790,17962724,17956637,17950068,17949425,17947472,17942395,17941001,17932690,17927446,17922974,17922051,17918184,17918158,17917087,17913857,17912028,17908966,17907599,17904685,17885502,17881501,17881446,17875767,17870017,17852426,17849451,17848912,17845757,17823122,17822324,17805209,17804738,17784875,17761979,17760255,17760253,17721266,17714760,17713473,17712488,17699773,17690890,17686547,17685929,17673923,17671201,17661145,17655843,17652160,17650314,17649787,17646646,17646270,17644807,17643426,17643098,17643093,17638075,17637750,17631905,17631646,17626639,17622245,17618248,17616711,17616694,17616668,17611648,17610986,17607370,17607119,17600311,17597605,17596643,17595327,17594688,17591931,17581404,17580276,17575224,17575133,17573511,17566601,17562788,17561305,17549377,17549361,17548638,17548604,17548351,17548322,17545606,17545553,17545148,17538889,17538160,17537621,17534846,17525275,17525128,12070153,12023273,12018405,12009895,12006662,11994282,11992543,11983694,11968000,11966576,11956190,11953893,11935304,11916499,11912208,11897506,11887937,11886870,11875501,11853560,11843178,11839738,11831486,11814623,11796728,11788593,11751923,11726515,11696537,11687594,11602604,11533659,11533253,11531336,11516622,11506178,11504770,11500850,11500516,11483589,11470832,11467954,11459228,11432805,11349134,11294897,11286993,11279102,11278868,11278445,11239464,11226410,11223155,11172806,11161793,11116146,11114724,11094073,10993906,10985391,10971656,10969083,10953014,10938113,10918587,10918300,10889023,10888683,10861448,10806474,10805725,10799548,10788520,10777553,10734107,10731668,10722725,10675333,10635327,10618391,10558875,10527633,10523301,10508618,10435588,10362357,10358079,10347170,10187783,10092522,10086340,10085134,10075741,9988678,9890970,9837959,9819414,9781061,9737977,9733788,9710451,9658162,9642287,9556602,9528863,9507002,9506992,9506989,9488479,9480911,9447973,9430697,9419975,9374534,9373149,9363897,9362449,9355745,9346925,9233779,9207933,9188692,9115287,9079622,9050991,9049247,9006901,8962717,8940083,8918811,8887653,8885868,8875975,8810325,8729040,8702572,8662998,8657103,8650580,8647858,8647288,8638121,8621392,8596488,8497321,8125298,7903710,7880396,7761838,7690989,7682059,7673163,7657660,7657591,7654368,7640657,7623846,7543024,7540771,7532293,7527043,6330563,6328312,6326261,6324343,6297856,6093780,3329716,3138233,3039909,2991899,2991749,2987962,2985580,2984676,2543678,2434500,2176151,1988448,1850098,1808202,1706616,1689310,1651322,1647028,1633149,1505215,1383230,1382070,1333047,1322798,1309762,1301150,15507625,14576349,15256501,15485908,9535896,11950845,15305378,15288768,15837620,15735736,8943228,8610109,8577769,1385407,8413296,15782189,2173144,1372092,8305738,1623525,12471035,2810532,2543683 1298665,1580956,1580957,1580953,1580954,1580955,1581898,734918,1581905,734919,1581912,1601010,2289947,2289949,2289943,2289979,2289955,2289980,2289950,2289951 1956 NM_005228,NM_201284,NM_201282,NM_201283,NG_007726,AC006977,AC073324,AF125539,AF288738,AY588246,CH236957,CH471201,CS238505,M11234,M38425,U48723,U48724,U48725,U48726,U48727,U48728,U48729,X06370,AB209442,AF125253,AF277897,AI217671,AK225422,AK290352,AL598260,AU137334,AW163038,AW295229,AY550966,AY698023,AY698024,BC070081,BC094761,BC118665,BC128419,CB160831,CR603510,DQ088980,K03193,U48722,U95089,X00588,X00663 NP_005219,NP_958441,NP_958439,NP_958440,AAS07524,AAG43243,AAG43244,AAG35786,AAG35787,AAG35788,AAG35789,AAG35790,AAS83109,EAW50962,EAW50963,EAW50964,EAW50965,CAJ55813,AAA52370,AAA63171,AAC50803,AAC50804,AAC50796,AAC50797,AAC50798,AAC50799,AAC50800,AAC50801,CAA29668,BAD92679,AAG43240,AAK01080,BAF83041,AAT52212,AAT97978,AAT97979,AAH94761,AAI18666,AAI28420,AAZ66620,AAA52371,AAC50802,AAB53063,CAA25240,CAA25282,P00533,Q147T7,Q2TTR7,Q504U8,Q59FL8,Q68GS5,Q68GS6,Q75MF2,Q8WZA5,Q9H3C8 Hs.488293 GDB:120610 ERBB|ERBB1|HER1|PIG61|mENA protein-coding 1342940 EGI epilepsy, generalized, idiopathic 1922810 1957 GDB:128830 735297 EGLN1 egl nine homolog 1 (C. elegans) 1580863,1334466 16956324,15721254,8606489,18347341,18072750,17933562,17932321,17579185,17353276,17060326,16880998,16815840,16782814,16710414,16489060,16407130,16161047,16157596,16155211,15897452,15563275,15247232,15156561,12912907,12670503,12615973,12477932,12351678,12163023,11595184,11595178,11574160,11056053,9828130 1334466 54583 AF246630,AF246631,AL117352,AL445524,CH471098,AF229245,AF277174,AF277176,AF334711,AJ227859,AJ310543,AL833885,BC005369,CR604521,DQ975380,NM_022051 NP_071334,AAG34568,EAW69959,AAG33965,AAK07534,AAK07536,CAC42509,CAD38741,AAH05369,ABM44413,Q9GZT9,Q9NTU9 Hs.444450 GDB:11500512 C1orf12|DKFZp761F179|ECYT3|HIFPH2|HPH2|PHD2|SM-20|SM20|ZMYND6 protein-coding 736328 EGLN2 egl nine homolog 2 (C. elegans) The hypoxia inducible factor (HIF) is a transcriptional complex which is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this posttranslational modification. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863,1334463,1334466 11850811,17114296,17101781,16649251,16509823,16381901,16344560,15489336,15489334,15247232,15231748,15156561,14702039,12670503,12615973,12477932,12351678,12163023,12004076,11598268,11595178,11574160,11292862,11292861,11230166,11076863,16189514,12039559,11595184 1334463,1334466 112398 AJ310544,AK025396,AK026863,AK074408,AK098182,AL133009,AL832506,AY040565,BC001723,BC036051,CR623538,DA300182,NM_080732,NM_053046,NG_000008,AC008537,CH471126 EAW57011,EAW57010,CAC42510,CAB61353,AAK82943,AAH01723,AAH36051,Q0JS30,Q96KS0,Q9UFE2,CAL38684,NP_542770,NP_444274,EAW57007,EAW57008,EAW57009 Hs.515417 GDB:11500735 DKFZp434E026|EIT6|HIFPH1|HPH-3|PHD1 protein-coding 732652 EGLN3 egl nine homolog 3 (C. elegans) 1580863,1334466 15721254,18347341,17684156,17003045,16958618,16407229,16098468,15489334,15251459,15247232,15156561,14702039,12670503,12615973,12477932,12163023,11598268,11595184,11595178,11574160,9373149,8125298 1334466 112399 NM_022073,AL358340,CH471078,AJ310545,AK025273,AK026918,AK123350,AK225473,BC010992,BC064924,BC102030,BC105938,BC105939,BC111057,BG716229,BX346941,BX354108,CR591195,CR592368,CR606051,CR608810,CR611178,CR613124,CR620175,CR623500,DQ975379 NP_071356,EAW65929,CAC42511,BAB15101,AAH10992,AAH64924,AAI02031,AAI05939,AAI05940,AAI11058,ABM44412,Q3T1B0,Q9H6Z9 Hs.135507 GDB:11500736 FLJ21620|HIFPH3|MGC125998|MGC125999|PHD3 protein-coding 737111 EGR1 early growth response 1 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppresor gene. 1580863,1626499,1626496,1626498 12560508,14744935,18324520,18316600,18215136,18174470,18171299,18068676,18067864,18027854,17986608,17975260,17967787,17932312,17671831,17631291,17631285,17599039,17581316,17559061,17516844,17494953,17448597,17420284,17257596,17099140,16995904,16858414,16831524,16741963,16702209,16552541,16464174,16393964,16382041,16260776,16093249,16091742,16079301,16007175,15999367,15923644,15910736,15875316,15709168,15689620,15640148,15611055,15548700,15545275,15523672,15517593,15489334,15486985,15449318,15231681,15225550,15211096,15155664,15023995,15003938,14985468,14966901,14722058,14662774,14522979,12958075,12947119,12890669,12872165,12729460,12706485,12690110,12637574,12618431,12571843,12569082,12566441,12553721,12553019,12543866,12517959,12507899,12477932,12470865,12457461,12456801,12439908,12433834,12393577,12384223,12379479,12235180,12165491,12065847,12011097,11978801,11956220,11925592,11909874,11830539,11819815,11795984,11278640,11251186,11124866,10849212,10806043,10671503,10575214,10409428,10082522,10079243,10051405,10049687,9806899,8668170,8662759,7624335,3839394,12560487,3127059,2377485,2110381,2109185,1702972,1569051,1411083,1383501,1090709,12840049,15616591 1626499,1626496,1626498 1958 NM_001964,AC113403,AJ243425,CH471062,BC041701,BC073983,M24019,M62829,M80583,X52541 NP_001955,CAB46678,EAW62135,EAW62136,AAH73983,AAA35815,CAA36777,P18146,Q546S1 Hs.326035,Hs.708393 GDB:119863 AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225 protein-coding 1352442 EGR2 early growth response 2 (Krox-20 homolog, Drosophila) The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1. 1358619,1601012,1601014,1580863 15164054,14702039,14596916,12736090,12687019,12609493,12477932,12471219,11909874,11835375,11545686,11523566,11239949,10960786,10762521,10502832,10371530,10369870,8702157,8093858,7935840,3140236,2496302,2111009,14532282,9537424,17717711,16912585,16582099,16495311,16198564,16169070,15947997,15489334,15241803,15173177 1358619,1601012,1601014 1959 CR749641,J04076,NM_000399,AL133417,CH471083,CQ834160,X53700,AF139463,AK091399,BC035625 AAH35625,CAH18435,AAA52372,P11161,NP_000390,EAW54238,EAW54239,CAH05295,AAD24588 Hs.1395 GDB:120611 CMT1D|CMT4E|DKFZp686J1957|FLJ14547|KROX20 protein-coding 736598 EGR3 early growth response 3 The gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also plays a role in muscle development. 1580863 1906159,9731539,9488654,17360599,15489334,15173177,15171706,14525795,12477932,11909874,8889549,8443122 1960 NM_004430,AC105046,CH471080,AK292464,BC104765,BC112279,N66802,S40832,X63741 NP_004421,EAW63649,BAF85153,AAI04766,AAI12280,AAB19317,CAA45275,Q06889 Hs.534313 GDB:129027 MGC138484|PILOT protein-coding 735817 EGR4 early growth response 4 728504,1580863 1584812,1658795,16344560,15815621,12560487,8504297,2072895 728504 1961 NM_001965,AC010913,CH471053,X69438,BX091371,DA151016,DA711319,X60104 NP_001956,AAX88903,EAW99734,CAA49214,CAA42698,Q05215 Hs.3052 GDB:129026 NGFI-C|NGFIC|PAT133 protein-coding 1346487 EHBP1 EH domain binding protein 1 10048485,15247266,15144186,14702039,14676205,12477932 23301 NM_015252,AC007098,AC009501,AC092567,CH471053,AB020710,AK000828,AK000986,AK292545,AL833968,AY331186,AY531390,BC029477,BC067215 NP_056067,AAY14789,AAY24356,AAX82024,EAW99969,EAW99970,EAW99971,BAA74926,BAA91391,BAF85234,CAD38814,AAQ97141,AAS48537,AAH29477,AAH67215,Q8NDI1 Hs.271667 KIAA0903|NACSIN protein-coding 1342687 EHBP1L1 EH domain binding protein 1-like 1 14702039,12477932,12107410,11790784 254102 NM_001099409,AP001362,AK024451,AK092750,AL713799,AL834433,BC024207,BX443367,CA397617,CR623980 NP_001092879,BAB15741,CAD39093,AAH24207,Q8N3D4 Hs.502867 DKFZp762C186|FLJ35431 protein-coding 1319124 EHD1 EH-domain containing 1 This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. 1580863 15371016,17899392,17507647,17284518,17081983,15710626,15489334,15247266,15020713,14702039,12665801,12477932,12121420,12032069,11423532,10673336,10564830,10395801,9397678,9253601,9110174,8619474 10938 NM_006795,AP001187,CH471076,AF001434,AF086188,AF099011,AK096747,AK097842,AK098723,AK124613,AK126581,AY007161,BC036898,BC104799,BC104825,CR590332,CR593287,CR598504,CR601381 NP_006786,EAW74317,EAW74318,EAW74319,EAW74320,EAW74321,AAB81204,AAD45866,AAG02009,AAI04800,AAI04826,Q9H4M9 Hs.523774,Hs.703402 GDB:9598953 FLJ42622|FLJ44618|H-PAST|HPAST1|PAST|PAST1 protein-coding 1348695 EHD2 EH-domain containing 2 This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. 1580863 10673336,17914359,16344560,16155252,15489334,15242332,15182197,14702039,14676205,12477932 30846 NM_014601,AC008745,AC010519,CH471126,AF181263,AF454952,AK026134,AK074701,AK097126,AK097228,AK315548,BC014445,BG677716,CR607936,CR609202,DA094880,DB260808 NP_055416,EAW57505,EAW57506,AAF40470,AAL51078,BAC11147,BAG37926,AAH14445,Q8NCJ3,Q9NZN4,ABM83761,ABM87081 Hs.631554 GDB:9992800 FLJ96617|PAST2 protein-coding 1346639 EHD3 EH-domain containing 3 1580863 10673336,17507647,16251358,15489334,12665801,12477932,12121420,11423532 30845 AF181264,AF214736,BC033100,NM_014600,AL121657,CH471053 AAF40471,AAF32285,Q9NZN3,AAI56224,AAI56997,NP_055415,EAX00480,EAX00481 Hs.368808 GDB:10796172 PAST3 protein-coding 734140 EHD4 EH-domain containing 4 1580863 10673336,17353931,11256614,15592455,15489334,12477932,12097419,11533061 30844 NM_139265,AC039056,CH471125,AF086163,AF181265,AF307137,AF323924,AF454953,AK024902,AK074621,AK292634,BC006287,BC051823,BC077716 NP_644670,EAW92525,EAW92526,AAF40472,AAG28784,AAK11599,AAL51079,BAC11095,BAF85323,AAH06287,AAH51823,Q8N2L4,Q9H223,ABM83671,ABM86944 Hs.143703 GDB:10796174 PAST4 pincher protein-coding 1321091 EHF ets homologous factor This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be associated with asthma susceptibility. This protein may be involved in epithelial differentiation and carcinogenesis. 1580863 10644770,17627613,17172423,17027647,16554811,16380452,15489334,12477932,12444029,12359648,11259407,10737800,10527851,8889548,17353931 26298 NM_012153,AC087783,AF163685,AL157952,CH471064,AF124438,AF124439,AF170583,AF203977,AF212848,AK025244,AL703839,AY882601,BC038995,BF754249,BM821693,BM834021,BM975808,BX486553,CD722227 NP_036285,CAC12700,CAC12701,EAW68162,EAW68163,EAW68164,EAW68165,EAW68166,AAD30990,AAD30991,AAF06998,AAG35644,AAF61670,AAW80658,AAH38995,Q9NZC4,ABZ92399 Hs.653859 GDB:10450539 ESE3|ESEJ protein-coding 1349142 EHHADH enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase 1580863 8188243,12477932,11451959,9373149,9185222,8125298,1651711,10856712 1962 NM_001966,AC007934,CH471052,AK223460,AK291798,BC011030,BC030982,BC038948,BC110460,L07077,S50245 NP_001957,EAW78228,EAW78229,EAW78230,BAD97180,BAF84487,AAH30982,AAH38948,AAI10461,AAA53289,AAB19482,Q08426,Q58EZ5 Hs.429879 GDB:141631 ECHD|LBFP|LBP|MGC120586|PBFE protein-coding 1316868 EHMT1 euchromatic histone-lysine N-methyltransferase 1 1580863 12004135,18264113,16826528,16501248,15805155,15489334,14702039,12477932,12168954,11347906 79813 BC025772,BC047504,BQ028833,NM_024757,AL590627,AL611925,CH471090,AB028932,AB058779,AF461894,AK022941,AL713772,AL832865,AY083210,BC011608 Q5VT57,Q71M33,Q86X08,Q9H9B1,AAH11608,AAH25772,AAH47504,Q5VT55,Q5VT56,NP_079033,EAW88409,EAW88410,EAW88411,EAW88412,EAW88413,BAB56104,BAB47505,AAQ04808,BAB14321,CAD28534,AAM09024 Hs.495511 DKFZp667M072|EUHMTASE1|Eu-HMTase1|FLJ12879|FP13812|GLP|KIAA1876|KMT1D|RP11-188C12.1|bA188C12.1 euchromatic histone methyltransferase 1 protein-coding 1605700 EHMT2 euchromatic histone-lysine N-methyltransferase 2 A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. This gene is found near this cluster; it was mapped near the gene for C2 within a 120-kb region that included a HSP70 gene pair. These genes are all within the human major histocompatibility complex class III region. This gene was thought to be two different genes, NG36 and G9a, adjacent to each other but a recent publication shows that there is only a single gene. The protein encoded by this gene is thought to be involved in intracellular protein-protein interaction. There are three alternatively spliced transcript variants of this gene but only two are fully described. 8457211,17707230,17584299,17145766,17085482,17005678,16964243,16501248,16344560,16287849,16189514,15590646,15489334,15269344,14702039,14656967,12700765,12477932,12130538,12004135,11707778,11316813,2813433,15200951 10919 NM_006709,AF134726,AL662834,AL671762,AL844853,BA000025,CH471081,NM_025256,CR388202,CR388219,AB209433,AJ315532,AK056936,AK092866,BC002686,BC009351,BC018718,BC020970,CR596486,CR606801,CR624754,DA099526,DA106400,X69838 NP_079532,NP_006700,AAD21811,AAD21812,CAI17747,CAI17748,CAI18225,CAI18226,CAI41852,CAI41853,BAB63294,BAB63295,EAX03540,EAX03541,EAX03542,EAX03543,EAX03544,CAQ09506,CAQ09507,CAQ09508,CAQ09509,CAQ07473,CAQ07474,BAD92670,CAC86666,BAB71314,AAH02686,AAH09351,AAH18718,AAH20970,CAA49491,Q59FM7,Q5JP83,Q5JQ92,Q5JQ99,Q5JQA0,Q5JQA1,Q5JQA2,Q5JQG3,Q5JQG4,Q96KQ7 Hs.520038 GDB:9958595 BAT8|C6orf30|DKFZp686H08213|FLJ35547|G9A|KMT1C|NG36|NG36/G9a protein-coding 1320441 EI24 etoposide induced 2.4 mRNA This gene has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The protein encoded by this gene contains six putative transmembrane domains and may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 9305847,17981155,17081983,12477932,11753653,11498783,10965130,10594026,9373149,8125298 9538 CR620959,CR624786,NM_004879,NM_001007277,AP001494,CH471065,AB209820,AF010313,AK223029,AK291951,AK315841,BC002390,BC029333,BM450796,BM467354,BQ936285,CR591658,CR594513,CR596457,CR601267,CR603925,CR605259,CR606550,CR609082,CR609666 O14681,Q53GA2,Q59EJ1,ABM82287,ABM85467,NP_004870,NP_001007278,EAW67641,EAW67642,BAD93057,AAC39531,BAF84640,BAF98732,AAH02390 Hs.643514 PIG8|TP53I8 protein-coding 1348426 EID1 EP300 interacting inhibitor of differentiation 1 1580863 11073990,11964378,15837424,11073989,17559085,12477932,11223246,10828624,9660940,16189514,15806172,15949438 23741 NM_014335,AC012379,CH471082,AF092135,AF109873,AF274947,AF349444,AI360508,AK098383,AL109701,AL357456,BC007944,BC024151,BC114944,BC114946,BI550673,CR590606,CR591214,CR594809,CR596029,CR596911,CR597592,CR597645,CR597731,CR598629,CR598752,CR599202,CR599918,CR600484,CR605769,CR607243,CR609265,CR609929,CR609938,CR610869,CR611063,CR612975,CR613655,CR614421,CR621532,CR623365,CR624399 NP_055150,EAW77357,AAD40377,AAG35179,AAK07524,AAK29640,BAC05296,CAB52022,CAB93108,AAI14945,AAI14947,Q9Y6B2 Hs.708064 GDB:11501749 C15orf3|CRI1|EID-1|IRO45620|MGC138883|MGC138884|PNAS-22|PTD014|RBP21 protein-coding 1351030 EID2 EP300 interacting inhibitor of differentiation 2 737633,1580863 14612439,14585496,12477932,12586827 737633 163126 NM_153232,AC011500,CH471126,AK128468,AY251272,BC030137,BC071854,BC099899,CR590269,CR618064,CR619159 NP_694964,EAW56909,BAC87454,AAP12559,AAH30137,AAH71854,AAH99899,Q6IPM4,Q8N6I1 Hs.18949 CRI2|EID-2|MGC20452 protein-coding 1603273 EID2B EP300 interacting inhibitor of differentiation 2B 15970276,14702039,12477932 126272 NM_152361,AC011500,CH471126,AK096263,BC009725,BC040157,BC051333 NP_689574,EAW56908,BAC04743,AAH09725,Q96D98 Hs.135181 EID-3|FLJ38944 protein-coding 1603793 EID3 EP300 interacting inhibitor of differentiation 3 16189514,15987788,15752197,12477932 493861 NM_001008394,AC090107,CH471054,AK098698,BC027612 NP_001008395,EAW97747,BAC05385,AAH27612,Q8N140 Hs.659857 FLJ25832|NSE4B|NSMCE4B protein-coding 1342567 EIF1 eukaryotic translation initiation factor 1 10347211,15592455,15489334,12477932,11073994,10754390,10228174,10208429,8889549,7904817 10209 NM_005801,AC130686,CH471152,AA159721,AF083441,AF100737,AJ012375,AL050005,BC005118,BC008710,BT006645,BU165055,CR457051,CR590482,CR592450,CR595398,CR595493,CR595653,CR595741,CR598013,CR598839,CR602728,CR602842,CR606182,CR607638,CR609099,CR611566,CR613776,CR615866,CR615963,CR620364,CR624079,CR625089,L26247 NP_005792,EAW60754,EAW60755,AAD52028,AAD19900,CAD66615,AAH05118,AAH08710,AAP35291,CAG33332,AAA60602,P41567,Q6IAV3,ABM87699,ABW03855 Hs.150580 GDB:126357 A121|EIF-1|EIF1A|ISO1|SUI1 protein-coding 1601944 EIF1AD eukaryotic translation initiation factor 1A domain containing 16189514,14702039,12477932 84285 NM_032325,AP006287,CH471076,CS300548,AK094129,BC005131 NP_115701,EAW74478,EAW74479,EAW74480,EAW74481,EAW74482,CAK32212,BAC04293,AAH05131,Q8N9N8 Hs.425178 MGC11102 hypothetical protein mgc11102 protein-coding 1347140 EIF1AP1 eukaryotic translation initiation factor 1A pseudogene 1 16710414,15772651,15489334,12477932,10678173,8106356 280661 NG_002419,AL021920,BC110421,CR620297 AAI10422 Hs.522897 pseudo 1351588 EIF1AX eukaryotic translation initiation factor 1A, X-linked This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. 1580863 8106356,12588972,17784828,16710414,15772651,15489334,14660691,12569173,12514125,12477932,12426392,11699879,11447110,10982835,10678173,9381176,16189514 1964 NM_001412,AL732366,CH471074,AL079283,AL832930,BC000793,BC047573,BC067851,BM467724,BT007064,CR596752,CR610950,L18960 NP_001403,CAI40550,CAI40551,EAW98972,EAW98973,AAH00793,AAH67851,AAP35727,AAA19812,O75642,P47813 Hs.522590 GDB:10794640 EIF1A|EIF1AP1|EIF4C|eIF-1A|eIF-4C protein-coding 1343052 EIF1AY eukaryotic translation initiation factor 1A, Y-linked This gene encodes a protein similar to eukaryotic translation initiation factor 1A (EIF1A). EIF1A is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. 1580863 12569173,16713569,15489334,15252450,14660691,12815422,12477932,9381176 9086 NM_004681,AC007678,CH471208,AF000987,BC005248,BF694967,BT007201,DQ786267 NP_004672,EAX11716,AAC51834,AAH05248,AAP35865,O14602,ABM92193,ABM84662 Hs.461178 GDB:9954847 protein-coding 1601885 EIF1B eukaryotic translation initiation factor 1B 17353931,7904817,15489334,12477932,10931946,9373149,8125298 10289 AC104186,CH471055,AA521449,AF064607,AF077052,AF263452,AK223448,BC006996,BF667107,CA335728,CR542223,CR600400,CR601510,CR602294,CR610118,NM_005875 Q53F41,Q6FG85,NP_005866,EAW64598,EAW64599,AAC17112,AAD27785,AAF79182,BAD97168,AAH06996,CAG47019,O60739 Hs.315230 GC20 protein-coding 1605026 EIF2A eukaryotic translation initiation factor 2A, 65kDa EIF2A is a 65-kD protein that catalyzes the formation of puromycin-sensitive 80S preinitiation complexes (Zoll et al., 2002 [PubMed 12133843]).[supplied by OMIM] 12133843,18195013,18063576,17894550,17715234,17553788,16928686,16870703,16717090,16631606,16373505,15718232,14702039,12477932,1620067,15781241,12687390,12370288,15345721,15341733,15961545 83939 NM_032025,AC107426,CH471052,AF109358,AF172818,AF212241,AF497978,AI560242,AK027356,AL833101,BC011885,BX647951,CR598149,CR601134,CR607540,CR608205 NP_114414,EAW78830,EAW78831,EAW78832,AAQ13506,AAQ13612,AAK14926,AAM83402,BAB55058,AAH11885,Q9BY44,ABM87787,ABW03863 Hs.655782 CDA02|EIF-2A|MST089|MSTP004|MSTP089 protein-coding 1354333 EIF2AK1 eukaryotic translation initiation factor 2-alpha kinase 1 The HRI gene is localized to 7p22 where its 3' end slightly overlaps the 3' end of the gene JTV1. The two genes are transcribed from opposite strands. Studies in rat and rabbit suggest that the HRI gene product phosphorylates the alpha subunit of eukaryotic initiation factor 2. Its kinase activity is induced by low levels of heme and inhibited by the presence of heme. 1580863 11036079,17081983,16381901,15489336,15489334,14702039,12853948,12767237,12690205,12477932,12391722,11256614,11230166,11101152,11076863,10931946,10718198,7709427,12149123 27102 AC004895,AC005995,CH236963,CH878731,AB037790,AF085994,AF100784,AF116634,AF147094,AF183414,NM_014413,AF255050,AK075192,AK290327,AL136563,AL834494,BC006524,CR610472,CR618147,CR620181,CR620243 NP_055228,AAS00356,AAS00388,EAL23714,EAW55049,EAW55050,EAW55051,BAA92607,AAP97223,AAF71057,AAF66736,AAG09683,AAF70289,BAC11461,BAF83016,CAB66498,CAD39152,AAH06524,Q0JTK8,Q0JVD4,Q549K6,Q75MR0,Q75MW7,Q9BQI3,CAL37526,CAL38154 Hs.520205 HRI|KIAA1369 protein-coding 1345835 EIF2AK2 eukaryotic translation initiation factor 2-alpha kinase 2 1351683,10866685,8576172,16288713,17353931,1695551,18087277,18063576,18048689,18023289,17977969,17959656,17928446,17928244,17851256,17785458,17716668,17686861,17612505,17597457,17596833,17541283,17522227,17451862,17318221,17307214,17290288,17284445,17202131,16989899,16954686,16924232,16861340,16785445,16580685,16466763,16446363,16373505,16339759,16271080,15907845,15880455,15815621,15737233,15635413,15625311,15607693,15596837,15535414,15489334,15299030,15207627,15122791,15121867,14961569,14765129,14698665,14638359,13678666,12944978,12882984,12679338,12665801,12609980,12539042,12483527,12477932,12473108,12447867,12397061,12396729,12368348,12368306,10542257,10400814,10400669,10390359,10348343,10330179,10320367,12349906,12231563,12138106,12060652,12055262,12051728,11991642,11985496,11921349,11555640,11526399,11447118,11438540,11438536,11438532,11350938,11337501,11278865,11152499,11123929,10884347,10848580,10747897,10723127,10684936,10648614,10620360,10557102,9819435,9781815,9736623,9735304,9726442,9721103,9687506,9528799,9214631,9143277,9135145,9079663,8921913,8887659,8812437,8601309,8099444,7738010,7686884,7686883,7568151,7491766,2180064,1708818,1677563,1373554,1373553,11468270 5610 AC007899,NM_002759,AF167472,AY228338,CH471053,U50648,AF086566,AK290655,AY302136,BC007769,BC022314,BC040851,BC057805,BC093676,BC101475,CR600308,M35663,M85294 AAY24317,NP_002750,AAF13156,AAO38055,EAX00406,EAX00407,EAX00408,EAX00409,AAC50768,BAF83344,AAP57628,AAH07769,AAH22314,AAH40851,AAH57805,AAH93676,AAI01476,AAA36409,AAA18253,P19525,Q05CP4,Q6PK38,Q7Z6F6,Q8IW76 Hs.131431 GDB:136275 EIF2AK1|MGC126524|PKR|PRKR protein-coding 1354090 EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3 1601017,1580863,734923 10026192,10677345,11907036,12086964,18063576,17823375,17785458,17229688,16344560,16148948,15650164,15489334,15483661,15220213,15146197,14517290,12610133,12477932,12446838,8099443,1677563,12446770,12370288,12014989,11555640,10932183,10575235,9819435 1601017,734923 9451 NM_004836,AC062029,AC104134,AF284615,CH471215,AF110146,AF193339,AI650734,AK128659,BC126354,BC126356,BQ014181,CN285475,CR749382,DB287944 NP_004827,AAY14777,AAY24331,AAF91480,EAW77068,EAW77069,AAD19961,AAF61199,AAI26355,AAI26357,CAH18234,A0AVH1,Q53QY0,Q53SB1,Q68DI6,Q9NZJ5 Hs.591589 GDB:9956743 DKFZp781H1925|HRI|PEK|PERK|WRS protein-coding 1322904 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 EIF2AK4 belongs to a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2S1; MIM 603907) to downregulate protein synthesis in response to varied cellular stresses (Berlanga et al., 1999 [PubMed 10504407]).[supplied by OMIM] 1580863 10504407,17192257,17081983,15761153,15489334,14702039,14671302,12477932,10718198 440275 NM_001013703,AC012377,AC025168,AY418110,BX640919,CH471125,AB037759,AJ243428,AK027011,AK074361,AL137627,AL137676,AL157497,AL832907,BC009350,BC014915,BC019914,BC061591,BC078179,BX649048,CR605057 NP_001013725,EAW92388,BAA92576,CAB58360,BAB15625,CAB70849,CAB75678,CAH10626,AAH09350,AAH78179,Q9P2K8,AAI46320 Hs.656673 GDB:11511176 GCN2|KIAA1338 protein-coding 733321 EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 734924,1580863 11323413,9235896,17353931,16289705,8626696,15217090,12499492,15060152,18263758,10805739,9446619,8887689,7495858,1883206,16169070,15776425,15752756,15489334,14993275,14566705,12707859,12477932,11835386,10858531 734924 1967 AC117503,NM_001414,CH471054,AL541292,BC103763,BC104188,BC104189,CR456831,CR596977,CR597921,CR602086,CR605116,CR606092,CR606497,CR609524,CR609781,CR612620,CR613959,CR624300,CR624872,X95648 NP_001405,EAW98424,EAW98425,AAI03764,AAI04189,AAI04190,CAG33112,CAA64950,Q14232 Hs.78592 GDB:126361 EIF-2B|EIF-2Balpha|EIF2B|EIF2BA|MGC117409|MGC125868|MGC125869 translation initiation factor eif-2b alpha-subunit protein-coding 731256 EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa Eukaryotic initiation factor-2B (EIF2B) is a GTP exchange protein essential for protein synthesis. It consists of alpha (EIF2B1; MIM 606686), beta (EIF2B2), gamma (EIF2B3; MIM 606273), delta (EIF2B4; MIM 606687), and epsilon (EIF2B5; MIM 603945) subunits. EIF2B activates its EIF2 (see MIM 603907) substrate by exchanging EIF2-bound GDP for GTP.[supplied by OMIM] 734925,1580863 11323413,15054402,15060152,16289705,8626696,15776425,14566705,15217090,15507143,12499492,17878805,16225457,15489334,14993275,12707859,12508121,12477932,11959995,11704758,10858531,10805739,9446619,9110174,8887689,8619474,7596406,16189514 734925 8892 BC000494,BC003165,BC011750,BI908906,BX161473,CR592355,CR608189,CR611901,CR622961,CR625991,CR626736,L40395,NM_014239,AC006530,AL049780,CH471061,AF035280 AAH00494,AAH03165,AAH11750,CAD61929,AAC42002,P49770,Q53XC2,Q9BPX4,ABM82290,ABM85470,NP_055054,AAD30183,EAW81210,AAB88176 Hs.409137 GDB:9864613 EIF-2Bbeta|EIF2B eukaryotic translation initiation factor 2b, subunit 2 (beta, 39kd) protein-coding 732190 EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 734924,1580863 11323413,15054402,15060152,10900014,16289705,8626696,15217090,12499492,18263758,16710414,16381901,16288713,15489336,15489334,14702039,12707859,11230166,12477932,11835386,11076863,10858531,10805739,17353931,16189514 734924 8891 NM_020365,AL136380,CH471059,AF257077,AK022399,AK024006,AL834288,BC014234,BC021017,BQ776018,CR457285,BC018728,CR592553,CR599300,CR601681,CR602327,CR603311,CR606912,CR607414,CR617761 NP_065098,CAI23129,CAI23131,CAI23132,CAI23133,EAX07011,EAX07012,EAX07013,EAX07014,EAX07015,EAX07016,AAF91351,BAB14027,BAB14770,CAD38962,AAH18728,CAG33566,Q0JS57,Q5QP88,Q5QP91,Q9HA31,Q9NR50,CAL38485,CAL38657 Hs.533549 GDB:9864614 EIF-2B|EIF2Bgamma eukaryotic translation initiation factor 2b, subunit 3 (gamma, 58kd) protein-coding 733707 EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. 632563,734924,1580863 16289705,8626696,11323413,15054402,15060152,14566705,15217090,15507143,12556349,12499492,18263758,18160716,18005052,16288713,15489334,12707859,12477932,11835386,10931946,10858531,10805739,9446619,8929216,8887689,7982969,16189514 632563,734924 8890 NM_001034116,NM_015636,NM_172195,AC074117,AJ011307,CH471053,AB209532,AF057699,AF086520,AF112207,AF218009,AJ011305,AJ011306,AL050109,BC001870,BC091502,CR597283,CR597984,CR599714,CR601596,CR602942,CR603027,CR614050,CR616878,CR625273,CR626662 NP_001029288,NP_056451,NP_751945,AAY14843,CAB57304,CAB57305,EAX00587,EAX00588,EAX00589,EAX00590,EAX00591,EAX00592,BAD92769,AAQ13438,AAF17195,AAG17251,CAB57260,CAB57261,CAB43277,AAH01870,AAH91502,Q53RY7,Q59FC8,Q71US4,Q9HBP7,Q9UI10,Q9Y3W7 Hs.169474 GDB:9864615 DKFZp586J0119|EIF-2B|EIF2B|EIF2Bdelta eukaryotic translation initiation factor 2b protein-coding 731553 EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 734925,1580863 11323413,15054402,16289705,8688466,15723074,8626696,14566705,15217090,15507143,12499492,15060152,18263758,17646634,17439913,17081983,16097034,16041584,15489334,15302935,14993275,14702039,14572143,12707859,12477932,12325082,12133000,11704758,11500362,10858531,10805739,10441579,9468292,9446619,1704758,17353931 734925 8893 NM_003907,AC131235,CH471052,AB208821,AK056400,AK091646,AL832179,BC013590,BC050476,BC053646,BI769147,CR619865,CR623820,U23028 NP_003898,EAW78298,EAW78299,EAW78300,EAW78301,EAW78302,BAD92058,BAC03712,AAH13590,AAH53646,AAC50646,Q13144,Q541Z1,Q59HD8,Q7Z6J7,ABM82409,ABM85596 Hs.283551 GDB:9864612 CACH|CLE|EIF-2B|EIF2Bepsilon|LVWM initiation factor eif-2be protein-coding 1312163 EIF2C1 eukaryotic translation initiation factor 2C, 1 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and argonaute 4. 1580863 12526743,10534406,18345015,17932509,17891150,17482383,16936728,16936726,16756390,16710414,15937477,15908945,15489334,15152257,14702039,12906857,12477932,12414724,12230974,10512872,9417904 26523 NM_012199,AL139286,CH471059,AF093097,AK000326,AK001622,AK002003,AK027611,BC063275,CR936823,U92986 NP_036331,CAI22803,CAI22804,EAX07396,AAF00068,AAH63275,Q5TA58,Q9UL18 Hs.22867 GDB:10795426 AGO1|DKFZp686M13167|EIF2C|GERP95|Q99 protein-coding 732767 EIF2C2 eukaryotic translation initiation factor 2C, 2 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. 1580863 14749716,10534406,18222171,18178619,17932509,17891150,17881374,17531811,17524464,17382880,17116888,16936728,16756390,16699599,16611939,16357216,16301602,15937477,15908945,15800637,15489334,15284456,14970384,12906857,12526743,12477932,12414724,12230974,11914277,16189514 27161 NM_012154,AC067931,AC107375,CH471060,CS300529,AA909234,AF121255,AY077717,BC007633,BC018727,BC125213,BC125214,BT007229 NP_036286,EAW92207,EAW92208,CAK32193,AAF13034,AAL76093,AAH07633,AAH18727,AAI25214,AAP35893,Q9UKV8 Hs.708124 GDB:10795891 AGO2|MGC3183|Q10 protein-coding 1319350 EIF2C3 eukaryotic translation initiation factor 2C, 3 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. 14702039,12906857,12526743,12477932,12414724,10997877 192669 NM_024852,NM_177422,AL138787,AL139286,CH471059,AA251146,AK022827,AK027796,AK292870,BC025769,BC066888,BF438817,BX104163,CR616249 NP_079128,NP_803171,CAI22801,EAX07394,EAX07395,BAB14262,BAB55374,BAF85559,AAH66888,Q5JV32,Q5TA56,Q6NXU1,Q96JZ0,Q9H9G7,AAI56435 Hs.657659 GDB:11508966 AGO3|FLJ12765|MGC86946 protein-coding 1312105 EIF2C4 eukaryotic translation initiation factor 2C, 4 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic containing PAZ and PIWI domains, and it may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of closely related family members including argonaute 3, and eukaryotic translation initiation factor 2C, 1. 1580863 16094384,12906857,12526743,12414724,11329013,10997877 192670 NM_017629,AL354864,AL359186,CH471059,AB046787,AK000040,AL831908,BC152450,BG186585 NP_060099,CAH73806,EAX07398,EAX07399,EAX07400,BAB13393,BAA90899,AAI52451,Q5VXF0,Q9HCK5,Q9NXV9,AAI60021 Hs.471492 GDB:11508967 AGO4 protein-coding 735608 EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa The translation initiation factor eIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, eIF2, and GTP. eIF2 is composed of 3 nonidentical subunits, alpha (36 kD), beta (38 kD, MIM 603908), and gamma (52 kD, MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of eIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM] 728211,1580863 11500362,16289705,1104615,12588972,11323413,2948954,18082745,17488873,17393484,17210633,17113348,16982605,16500424,16418533,16289913,16288713,16216881,16210351,15650164,15635413,15489334,15476887,15341733,15330758,15207627,15060162,14747531,12687390,12686399,12601012,12556489,12514125,12499843,12477932,12447867,11985496,11859078,11739746,11555640,11331597,10734073,10648795,10620360,10542257,10504407,10432301,9819435,9446619,9442054,9079663,8887689,8645159,8099444,8099443,8098621,7821789,2116318,1883206,1748310,1677563,1400363,17353931,12370288,12186496 728211 1965 AL139785,CH471061,BC002513,BX161521,CR598254,CR598706,CR600389,CR601355,CR604321,CR618395,D28379,J02645,U26032,NM_004094 ABM83077,ABM86273,NP_004085,EAW80933,EAW80934,AAH02513,CAD61953,BAA05745,AAA52373,P05198,Q53XC0 Hs.151777 GDB:126359 EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A eukaryotic translation initiation factor 2, subunit 1 (alpha ) protein-coding 1343864 EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. 1580863 3044606,16288713,16289705,1104615,12588972,17081983,16169070,15635413,15489334,12901717,12477932,11959995,11780052,11739746,11092890,10805739,10805737,10648795,10620360,9933616,9446619,9442054,9395514,9079663,8024572,16189514 8894 BC000461,BC000934,BC007888,BC107588,BT009795,BX648379,CR456734,CR593406,CR595813,CR599964,CR600011,CR600365,CR605247,CR611550,CR621409,CR624977,M29536,NM_003908,AF076927,AL031668,CH471077,AB208966 BAD92203,AAH00461,AAH00934,AAH07888,AAI07589,AAP88797,CAG33015,AAA52383,P20042,Q3B7I9,Q59GZ3,Q6IBR8,Q96I16,ABM81931,ABM85110,NP_003899,AAD19864,CAB43741,EAW76284,EAW76285,EAW76286 Hs.429180 GDB:9864611 DKFZp686L18198|EIF2|EIF2B|EIF2beta|MGC8508 protein-coding 1349546 EIF2S2P eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene 319115 NG_002496,AL161670 pseudo 1343874 EIF2S2P2 eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene 2 347673 NG_002696,AC007934,AC128680 bcm2636 pseudo 1352428 EIF2S2P3 eukaryotic translation initiation factor 2, subunit 2 beta, pseudogene 3 414262 1346365 EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 1580863 8098621,15669143,8106381,16288713,17220478,17353931,10900014,16289705,1104615,12588972,16201836,15635413,15489334,12665801,12477932,10648795,10620360,9736774,9373149,9079663,8125298 1968 NM_001415,AC079169,CH471074,DQ120619,AF274932,AI133612,AK222577,AK290397,BC011945,BC019906,BF435665,CB150474,L19161 NP_001406,EAW99010,EAW99011,EAW99012,ABB92405,BAD96297,BAF83086,AAH19906,AAA19696,P41091,Q2VIR3,Q53HK3,ABM82720,ABM85903 Hs.539684 GDB:306330 EIF2|EIF2G|EIF2gamma protein-coding 1316362 EIF3A eukaryotic translation initiation factor 3, subunit A 1580863 12812986,9418880,11169732,9150439,2110361,9054404,12588972,17581632,17381544,17353931,16829125,16497727,15946946,14519125,12878157,12477932,12124384,11384103,11102443,10611228,10444591,9925932,9822659,9804427,9790534,8995410,8995409,8816444,8590280 8661 NM_003750,AL355598,CH471066,U58047,AU279600,BC020285,BC033769,BC054342,BC064926,BC107776,BC114429,CR604985,D50929,U58046,U78311 NP_003741,EAW49408,AAB41586,AAH33769,AAH54342,AAH64926,AAI07777,AAI14430,BAA09488,AAB41584,AAB80695,Q05BS0,Q14152,Q24JU4,Q3B770,Q5T5X0,Q6P1R0,Q7Z5T5,Q96C72 Hs.523299 GDB:9864835 EIF3|EIF3S10|KIAA0139|P167|TIF32|eIF3-p170|eIF3-theta|p180|p185 protein-coding 1319125 EIF3B eukaryotic translation initiation factor 3, subunit B 1580863 7693677,11169732,14688252,8995410,12588972,17190833,17081983,15592455,15489334,15302935,14702039,14519125,12690205,12477932,11331597,9847074,9822659,9388245,8995409,8889548 8662 NM_001037283,NM_003751,AC004840,AC004971,CH236953,CH471144,AB209381,AI888128,AK093807,AK126670,BC001173,BC009986,BC110865,BG325094,BM556863,BQ015102,BQ045103,BQ070291,CR603885,CR603939,U62583,U78525 NP_001032360,NP_003742,AAP21880,EAL23951,EAL23952,EAW87237,EAW87238,EAW87239,EAW87240,EAW87241,BAD92618,BAC86636,AAH01173,AAH09986,AAI10866,AAB42010,AAC99479,P55884,Q4V9R8,Q59FS8,Q6ZTF4,Q86UM1,Q96G38 Hs.371001 GDB:9864841 EIF3-ETA|EIF3-P110|EIF3-P116|EIF3S9|MGC104664|MGC131875|PRT1 protein-coding 1318894 EIF3C eukaryotic translation initiation factor 3, subunit C 1580863 8995409,12588972,17081983,16964243,16341674,16097034,16083285,15489334,15302935,15231748,15146197,14702039,14519125,12514125,12477932,10504338,10493829,9822659,8995410,16189514 8663 BC000533,BC001571,BC071705,BC107692,BE780094,BF665714,BM757468,BT007335,BX648075,CA420261,CN410678,CR596433,CR598030,CR603017,CR615339,NM_003752,AC002544,AC145285,CH878380,U46025,U91326,AK000739,AK055366,AK130531,AK292155,AY762099,NM_001037808 AAX07826,AAH00533,AAH01571,AAH71705,AAI07693,AAP35999,Q3B7B9,Q99613,ABM82558,ABM85748,NP_001032897,NP_003743,AAC27426,EAW50492,EAW50493,EAW50494,EAW50495,EAW50496,AAD03462,AAC27674,BAA91352,BAF84844 Hs.535464,Hs.567374 GDB:9864840 EIF3S8|FLJ78287|eIF3-p110 protein-coding 1626547 EIF3CL eukaryotic translation initiation factor 3, subunit C-like 10493829 728689 NM_001099661,AC138894,BC157842,BC157849 NP_001093131,AAI57843,AAI57850 Hs.535464 protein-coding 1352969 EIF3D eukaryotic translation initiation factor 3, subunit D Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. 1580863 11369516,17353931,9341143,12588972,15592455,15489334,15461802,14519125,12477932,11590142,11331597,10591208,9822659,8995410,8995409 8664 AL022313,CH471095,AW575097,BC000328,BC000469,BC014912,BC080515,NM_003753,BC093100,BC093686,BC101477,BG718662,BT007381,CR456489,CR590905,CR592055,CR594075,CR597661,CR598567,CR598738,CR599204,CR599437,CR599881,CR602176,CR602247,CR593947,CR603468,CR604396,CR605490,CR607183,CR607944,CR612442,CR613120,CR614709,CR615269,CR615483,CR619679,CR620115,CR625660,CR626445,U54558 NP_003744,CAA18440,CAQ06703,CAQ06704,CAQ06705,CAQ06706,CAQ06707,CAQ06708,EAW60109,EAW60110,AAH00328,AAH00469,AAH14912,AAH80515,AAH93100,AAH93686,AAI01478,AAP36045,CAG30375,AAD03466,O15371,CAK54480,CAK54779,ABM82055,ABM85234 Hs.55682 GDB:9864839 EIF3S7|MGC126526|MGC17258|eIF3-p66|eIF3-zeta protein-coding 1323023 EIF3E eukaryotic translation initiation factor 3, subunit E 14667819,17220478,17324924,17353931,9295280,12588972,17516841,17468741,17310990,16766523,16189514,15867213,15592455,15558017,15489334,15231748,15030549,14702039,14519125,12553909,12477932,12386384,12220626,11590142,11121040,11118224,10644362,10504338,9822659,9403073,8995410,8995409,8688078,12435599 3646 NM_001568,AC087620,AP001331,CH471060,U94174,AK124178,BC000734,BC005944,BC008419,BC016706,BC017887,BC021679,BG498300,CR457029,CR542275,CR595188,CR597834,CR598628,CR607803,CR608129,CR611386,CR611387,CR612349,CR613323,CR615385,CR617854,CR621066,CR621914,CR623723,CR625706,U54562,U62962,U85947,U94175 NP_001559,EAW91918,EAW91919,AAC51917,AAH00734,AAH08419,AAH16706,AAH17887,AAH21679,CAG33310,CAG47071,AAC51760,AAB58251,AAB88873,AAC51919,P60228,Q6FG33,Q6IAX5,Q8WVK4,Q9BRV2,ABM83204,ABM86404 Hs.405590 GDB:6306715 EIF3-P48|EIF3S6|INT6|eIF3-p46 protein-coding 1317885 EIF3EIP eukaryotic translation initiation factor 3, subunit E interacting protein 1580863 15231747,17353931,16189514,15489334,15461802,15231748,14702039,12477932,12393749,11592397,11590142,11042152,9373149,8125298 51386 NM_016091,AL022311,CH471095,Z97630,AF077207,AF083243,AF109359,AK027429,AK056129,AK093540,AK098457,AK098713,AK129648,AK222496,AK222529,CR597571,CR597768,CR598540,CR602486,CR602615,CR603239,CR603334,CR604937,CR606748,CR606800,CR607282,CR607712,CR608959,CR609964,CR612723,CR613610,CR613765,CR614773,CR615648,CR617210,CR618554,CR619704,CR619933,CR621358,CR626782,CR596649,AL357455,BC001101,BC007510,BC011448,BC029265,CR456436,CR590077,CR591951,CR593242,CR593536,CR593580,CR594883,CR594887,CR594953,CR595132,CR595777,CR595838,CR596123,CR596392 NP_057175,EAW60195,EAW60196,EAW60197,EAW60198,CAI21418,AAD27002,AAD39841,AAQ13507,BAC05310,BAD96216,BAD96249,Q7Z5X3,Q8N7H0,Q9Y262,CAK54466,CAK54765,ABM82768,ABM84521,ABW03762,ABM85956,AAH01101,AAH07510,AAH11448,AAH29265,CAG30322 Hs.446852 GDB:11505976 EIF3S11|EIF3S6IP|HSPC021|HSPC025|MSTP005 protein-coding 1350196 EIF3EIPP1 eukaryotic translation initiation factor 3, subunit E interacting protein pseudogene 1 319117 NG_002498,AL355838 EIF3S6IPP pseudo 1352708 EIF3EIPP2 eukaryotic translation initiation factor 3, subunit E interacting protein pseudogene 2 143341 NG_001544,AL022345 EIF3S6IPP2 pseudo 1346432 EIF3EP eukaryotic translation initiation factor 3, subunit E pseudogene 9847074,9403073 3647 NG_001023,AC019205 EIF3S6P1|INT6P1 pseudo 1314535 EIF3F eukaryotic translation initiation factor 3, subunit F 1580863 17353931,9341143,12588972,17918192,16537434,16189514,16169070,15862967,15489334,15231748,14702039,14519125,12477932,12446680,9822659,8995410,8995409 8665 NM_003754,AC116456,AK027739,AK093511,AK095574,AK289637,AK291354,BC000490,BC073753,BT006894,CB141463,CD050033,CR456959,CR612791,CR619191,U94855 NP_003745,BAC04577,BAF82326,BAF84043,AAH00490,AAP35540,CAG33240,AAD03467,O00303,ABM81692 Hs.516023 GDB:9864838 EIF3S5|eIF3-p47 protein-coding 1344484 EIF3FP eukaryotic translation initiation factor 3, subunit F pseudogene 10830953 54053 NG_000925,AP003900 GDB:10796324 EIF3S5P pseudo 1605321 EIF3FP2 eukaryotic translation initiation factor 3, subunit F pseudogene 2 83880 NG_005632,AL356585 Q9BX72 IFP38 pseudo 1316234 EIF3G eukaryotic translation initiation factor 3, subunit G 1580863 17353931,9973622,12588972,17094969,16243297,15489334,15302935,14519125,12477932,10887144,9822659,8995410,8995409,8889549,16189514,14688252,15231747 8666 NM_003755,AC020931,AF092453,CH471106,AA134976,AF020833,AF094850,AK291320,BC000733,BC008469,BE017996,BF701069,BT006889,CR457134,CR592654,CR595095,CR598702,CR608337,CR609592,CR611551,CR613864,CR616432,U96074 ABM87800,NP_003746,AAG15396,EAW84078,AAB71866,AAG15419,BAF84009,AAH00733,AAH08469,AAP35535,CAG33415,AAC78728,O75821,Q6IAM0,ABM92233 Hs.529059 GDB:9864837 EIF3-P42|EIF3S4|eIF3-delta|eIF3-p44 protein-coding 1351668 EIF3H eukaryotic translation initiation factor 3, subunit H 1580863,2289900,2289901,2289902 8995409,8125298,12812986,17353931,9341143,12588972,17081983,16652384,16344560,16189514,15489334,14997205,14702039,14578863,14519125,12477932,11733359,9822659,9373149,8995410 2289900,2289901,2289902 8667 NM_003756,AC023520,AF092576,AP002905,CH471060,AA902770,AK093128,AK222520,AK222620,AU117206,BC000386,BC090880,BT019594,CR456906,CR590054,CR597364,CR602203,CR611008,CR612538,CR614647,CR614766,CR616809,CR617128,CR625088,U54559 NP_003747,AAC84044,EAW91956,EAW91957,EAW91958,EAW91959,BAD96240,BAD96340,AAH00386,AAH90880,AAV38401,CAG33187,AAD03465,O15372,Q53HG0,Q53HR0,Q5BKY2,Q6IB98 Hs.492599 GDB:9864834 EIF3S3|MGC102958|eIF3-gamma|eIF3-p40 protein-coding 1350072 EIF3I eukaryotic translation initiation factor 3, subunit I 1302501,1580863 14688252,17353931,8995409,12588972,16929481,16341674,16236267,15592455,15489334,15231747,14519125,12477932,11781097,10706629,9822659,9813058,9599024,9373149,8995410,8125298,7566158,7566156,9368056,16189514 1302501 8668 BC003140,BC018815,BM761611,BT019597,CR592343,CR593343,CR600827,CR603111,CR605302,CR606359,CR607032,CR608953,CR612231,CR614021,CR616788,CR617123,CR618012,CR619600,CR620781,CR622680,U36764,U39067,AL049795,AL121991,CH471059,AF116697,AK130633,AK222483,AK225024,AK289356,AK289882,BC000413,NM_003757 AAH03140,AAV38404,AAC50224,AAC97144,Q13347,Q53HU7,Q5TDH7,Q5TFK1,Q9P1D9,ABM82175,ABM85526,NP_003748,CAI22061,CAI22062,CAI22322,EAX07552,EAX07553,EAX07554,EAX07555,AAF71117,BAD96203,BAF82045,BAF82571,AAH00413 Hs.530096 GDB:9864833 EIF3S2|PRO2242|TRIP-1|TRIP1|eIF3-beta|eIF3-p36 protein-coding 1626559 EIF3IP1 eukaryotic translation initiation factor 3, subunit I pseudogene 1 442720 NR_003024,AC004161,CH236947 RG208K23 pseudo 1317118 EIF3J eukaryotic translation initiation factor 3, subunit J Eukaryotic initiation factor-3 (EIF3) has a molecular mass of about 600 kD and contains 13 nonidentical protein subunits, including EIF3J. EIF3 plays a central role in binding of initiator methionyl-tRNA and mRNA to the 40S ribosomal subunit to form the 40S initiation complex (Fraser et al., 2004 [PubMed 14688252]; Fraser et al., 2007 [PubMed 17588516]).[supplied by OMIM] 1580863 14688252,9822659,12588972,17588516,17190833,17081983,16964243,15489334,14702039,14519125,12477932,11560931,10672017,8995410,8995409 8669 NM_003758,AC009996,CH471082,AF090923,AK002006,AK023388,BC002719,CR606839,CR607662,CR616962,CR618144,CR620283,CR623136,CR624307,U97670 NP_003749,EAW77268,EAW77269,EAW77270,EAW77271,AAF24039,BAB14555,AAH02719,AAC78729,O75822 Hs.404056 GDB:9864832 EIF3S1|eIF3-alpha|eIF3-p35 protein-coding 1342979 EIF3K eukaryotic translation initiation factor 3, subunit K The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM] 1580863 17353931,12588972,17081983,16189514,15489334,15327989,15180986,14519125,12477932,12006665,11042152 27335 NM_013234,AC008649,CH471126,AB019392,AF077051,AF085358,AF109355,AF315506,AK026531,AK289554,AY245432,BC001031,BC007335,BC007559,BF664642 NP_037366,EAW56803,EAW56804,EAW56805,EAW56806,EAW56807,EAW56808,BAA76626,AAD27784,AAD40193,AAQ13503,AAK01365,BAF82243,AAP22070,AAH01031,AAH07335,AAH07559,Q9P199,Q9UBQ5 Hs.314359 ARG134|EIF3-p28|EIF3S12|HSPC029|M9|MSTP001|PLAC-24|PLAC24|PRO1474|PTD001 protein-coding 1607072 EIF3M eukaryotic translation initiation factor 3, subunit M HFLB5 encodes a broadly expressed protein containing putative membrane fusion domains that acts as a receptor or coreceptor for entry of herpes simplex virus (HSV) (Perez et al., 2005 [PubMed 15919898]).[supplied by OMIM] 17353931,17719568,15919899,15919898,15231747,14702039,12477932,9373149,8125298 10480 NM_006360,AL078477,CH471064,AF064603,AF277183,AK001768,AK131064,AK222564,AK292139,AY769947,BC011937,BC019103,BC020458,BC051292,CR450300,CR593695,CR598759,CR608161,CR614249,DQ185042 NP_006351,EAW68217,EAW68218,AAC17108,AAK07542,BAD96284,BAF84828,AAX12524,AAH19103,AAH51292,CAG29296,ABD14422,Q7L2H7 Hs.502244 B5|FLJ29030|GA17|PCID1|hfl-B5 protein-coding 1354204 EIF4A1 eukaryotic translation initiation factor 4A, isoform 1 3215517,9548260,8449919,12588972,9168945,18296639,18034160,17130132,15489334,15282546,15082783,12477932,10611228,9790779,9418880,9372926,8493113,17353931,12426392,11903057,11408474,11073994,10880459,10644445 1973 CR598002,CR598780,CR599025,CR599489,CR599522,CR600142,CR600480,CR602367,CR602368,CR603368,CR603854,CR604267,CR605316,CR605465,CR607537,CR608998,CR610019,CR612440,CR614903,CR617051,CR618674,CR619465,CR619751,CR620740,CR621238,CR621511,CR622601,CR623095,CR623167,CR623219,CR624603,CR626851,D13748,NM_001416,AC016876,AF175325,CH471108,AK130082,AK289453,AK291971,BC006210,BC009585,BC032078,BC073752,BT019880,BT019881,CR592725,CR596028 BAA02897,P60842,Q59F68,Q9BRB1,Q9NZR9,ABM83970,ABM87287,NP_001407,AAF34151,EAW90166,EAW90167,EAW90168,EAW90169,BAF82142,BAF84660,AAH09585,AAH73752,AAV38683,AAV38684 Hs.129673 GDB:126409 DDX2A|EIF-4A|EIF4A protein-coding 1348458 EIF4A1P eukaryotic translation initiation factor 4A, isoform 1, pseudogene 10830953 54052 NG_000924,AP001604 GDB:10796326 pseudo 1319448 EIF4A2 eukaryotic translation initiation factor 4A, isoform 2 1580863 11408474,8521730,8449919,12588972,16567544,16014927,15946665,15489334,12477932,11922617,9373149,8125298,17353931 1974 AC112907,CH471052,AB209021,AF208852,AK130087,AK225646,AL117412,AL556981,AY207392,BC006469,BC012547,BC013708,BC015842,NM_001967,BC016295,BC039344,BC048105,BT009860,CR596580,CR599712,CR603415,CR603853,CR605467,CR606844,CR607930,CR608118,CR608605,CR608701,CR609376,CR611075,CR612348,CR618942,CR620711,CR620873,CR623203,CR623575,CR624738,D30655,S79942,AL137681 NP_001958,EAW78172,EAW78173,EAW78174,EAW78175,EAW78176,EAW78177,EAW78178,BAD92258,AAF64266,CAI46218,AAO66460,AAH12547,AAH13708,AAH15842,AAH16295,AAH48105,AAP88862,BAA06336,Q14240,Q53XJ6,Q59GT8,Q5JWW0,Q86WD0,Q96B07,Q9NZE6,ABM82664,ABM85840 Hs.518475,Hs.599481 GDB:568861 BM-010|DDX2B|EIF4A|EIF4F protein-coding 1352000 EIF4A3 eukaryotic translation initiation factor 4A, isoform 3 This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. 1580863 10523622,14730019,14973490,17632064,17606899,17456004,16931718,16209946,16189514,16170325,15796914,15635413,15489334,15324660,15034551,12477932,12127692,11991638,10623621,7788527,15024115 9775 NM_014740,AC087741,CH471099,AK290608,BC003662,BC004386,BC011151,CA428254,CR456750,CR592216,CR592646,CR594986,CR595350,CR602794,CR605620,CR606403,CR607222,CR607328,CR609184,CR617112,CR623947,D21853,X79538 NP_055555,EAW89584,EAW89585,BAF83297,AAH03662,AAH04386,AAH11151,CAG33031,BAA04879,CAA56074,P38919,Q6IBQ2 Hs.389649 DDX48|KIAA0111|MGC10862|NMP265|NUK-34|eIF4AIII|hNMP265 protein-coding 1315118 EIF4B eukaryotic translation initiation factor 4B 1580863 2390971,12588972,15314020,17081983,16763566,15342556,15302935,15078951,15071500,14702039,12885229,12477932,11274152,10672017,10585411,9373149,8816444,8182051,8139536,8125298,6722878,2016328 1975 CR597552,CR601603,CR623214,CR626190,CR626243,CR627377,CR593511,CR593935,CR595589,CR596288,NM_001417,AC068888,CH471054,X55733,AB076839,AF119854,AK092188,AK222528,BC001097,BC007745,BC013994,BC047302,BC061907,BC064029,BC073139,BC073154,BC098437,BG547613,BP236621,BP243230,BU431305,BU902688,CR456958 CAH10474,P23588,Q4G0E3,Q53HQ2,Q6AI40,Q6GPH5,Q6IB46,Q7Z5Y0,Q8WYK5,Q9P192,CAG33239,NP_001408,EAW96657,CAA39265,BAB82380,AAF69608,BAD96248,AAH01097,AAH73139,AAH73154,AAH98437 Hs.648394,Hs.702041 GDB:126410 EIF-4B|PRO1843 protein-coding 1347862 EIF4BP eukaryotic translation initiation factor 4B pseudogene 319118 NG_002499,AL109766 pseudo 732833 EIF4E eukaryotic translation initiation factor 4E All eukaryotic cellular mRNAs are blocked at their 5-prime ends with the 7-methylguanosine cap structure, m7GpppX (where X is any nucleotide). This structure is involved in several cellular processes including enhanced translational efficiency, splicing, mRNA stability, and RNA nuclear export. EIF4E is a eukaryotic translation initiation factor involved in directing ribosomes to the cap structure of mRNAs. It is a 24-kD polypeptide that exists as both a free form and as part of a multiprotein complex termed EIF4F. The EIF4E polypeptide is the rate-limiting component of the eukaryotic translation apparatus and is involved in the mRNA-ribosome binding step of eukaryotic protein synthesis. The other subunits of EIF4F are a 50-kD polypeptide, termed EIF4A (see MIM 601102), that possesses ATPase and RNA helicase activities, and a 220-kD polypeptide, EIF4G (MIM 600495) (Rychlik et al., 1987 [PubMed 3469651]).[supplied by OMIM] 1580863 3469651,9878069,10856257,15153109,15247416,16739988,17353931,7935836,8449919,12588972,15809305,18343217,17855553,17786246,17724079,17689990,17667941,17638893,17631896,17601486,17524464,17316564,17245113,17203162,17074885,17010208,16756390,16720573,16699599,16540463,16332685,16112647,15961545,15956551,15878868,15840819,15542544,15489334,15487973,15375804,15371741,15355912,15220445,15122903,15094042,14990584,14732354,14645512,12975586,12918105,12897141,12781867,12691746,12554669,12482586,12477932,12374671,12239292,12189553,12186496,12169454,12167712,12151318,12138083,12105188,11959093,11879179,11847216,11771728,11605658,11553333,11500381,11408474,11401917,11154262,11072066,10910074,10880459,10870064,10648556,10600798,10394359,10022874,9628874,9607624,9593750,9418880,9372926,9330633,9155017,8939971,8816458,8662663,8521827,8505316,7782323,7665584,7651417,7590282,3112145,2016328,1993647,1916814,1736299,1674733,1672854,1384058,12775419,12089333,16189514,16023599,15897904,15361857 1977 NM_001968,AC019131,AC093836,CH471057,CS060531,AV708571,BC012611,BC035166,BC043226,BC107715,CA419184,CR600733,CR603932,CR606387,M15353 NP_001959,EAX06077,EAX06078,EAX06079,EAX06080,EAX06081,CAI79364,AAH12611,AAH35166,AAH43226,AAI07716,AAC13647,P06730,Q32Q75,ABM81654,ABM84829 Hs.249718 GDB:126371 CBP|EIF4E1|EIF4EL1|EIF4F|MGC111573 protein-coding 1601810 EIF4E1B eukaryotic translation initiation factor 4E family member 1B 16344560,16191198,14702039 253314 NM_001099408,AC091934,AK094270,BM709255,DA689940,DR008159,DR731203 NP_001092878 Hs.448362 FLJ36951 protein-coding 1348644 EIF4E2 eukaryotic translation initiation factor 4E family member 2 1298632 9582349,15094042,17353931,17369309,17368478,17289916,16189514,15489334,15153109,14702039,14623119,12477932,11042152,9653160 1298632 9470 NM_004846,AC092165,AC093383,CH471063,AB209519,AF038957,AF047695,AF068117,AK022518,BC000360,BC005392,BC005874,BC021226,BC021690,CB994873,CR621280,W80980 NP_004837,AAY24105,EAW71007,EAW71008,EAW71009,EAW71010,BAD92756,AAC39871,AAC18565,AAC19374,AAH05392,AAH05874,AAH21226,AAH21690,O60573,Q53RG0,Q59FE1,Q7Z5G7 Hs.292026,Hs.700929 4E-LP|4EHP|EIF4EL3|IF4e eukaryotic translation initiation factor 4e member 2 protein-coding 1351027 EIF4E2P1 eukaryotic translation initiation factor 4E family member 2 pseudogene 1 128770 NG_005202,AL078634 EIF4EL4|dJ1049G11.3 eukaryotic translation initiation factor 4e member 2 pseudogene 1 pseudo 1348241 EIF4E3 eukaryotic translation initiation factor 4E family member 3 EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM] 15153109,12477932 317649 NM_173359,AC096970,AC097634,AC134770,CH471055,AK126999,AL161983,BC022303,BC031289,BC068443,BX648727 NP_775495,EAW65503,EAW65504,AAH31289,AAH68443,Q8N5X7 Hs.655608 MGC39820|MGC86971 eukaryotic translation initiation factor 4e member 3 protein-coding 1353500 EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5' end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. 1625616,1580863 15094042,15153109,17353931,7935836,15809305,18442140,18439897,18280804,17724476,17699757,17653084,17604271,17601486,17200342,17114181,17081983,16983702,16873412,16824195,16715128,16652388,16648488,16189514,16098202,15542544,15489334,15178440,14507920,12912989,12820960,12759354,12665801,12665511,12618431,12604610,12588975,12477932,12271141,12105188,12080086,11909977,11847216,11777913,11691836,11605658,11553333,11438723,11280764,11146653,11114166,10942774,10779345,10405182,10364159,10198256,9806882,9628874,9465032,9405468,9092573,8975712,8957083,8816458,8521827,8083223,15854902,10022874,15467718,7651417,10608806 1625616 1978 NM_004095,AP006545,CH471080,AB044548,BC004459,BC058073,BF964628,BT007162,CR456769,L36055 NP_004086,EAW63341,EAW63342,BAB18650,AAH04459,AAH58073,AAP35826,CAG33050,AAA62269,Q13541,ABM92187,ABM84657 Hs.411641 GDB:437247 4EBP1|BP-1|MGC4316|PHAS-I protein-coding 1348355 EIF4EBP1P eukaryotic translation initiation factor 4E binding protein 1 pseudogene 326295 NG_002547,AL161747 pseudo 1321948 EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 1580863 15153109,15489334,14507920,12477932,12151318,11847216,8975712,8939971,7935836,7651417,16189514 1979 NM_004096,AC022532,CH471083,BC005057,BC015007,BC050633,BT007317,CR542240,CR610579,CR611424,L36056 NP_004087,EAW54400,EAW54401,EAW54402,AAH05057,AAH50633,AAP35981,CAG47036,AAA62270,Q13542,Q6FG68,ABM84031,ABM87376 Hs.621200,Hs.695953,Hs.705686 GDB:437248 4EBP2 protein-coding 1350854 EIF4EBP2P eukaryotic translation initiation factor 4E binding protein 2 pseudogene 170510 NG_001034,AL031681 GDB:11505978 dJ862K6.3 pseudo 1347749 EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 This gene encodes a member of the EIF4EBP family which derives it name from proteins that bind to eukaryotic initiation factor 4E and that prevent its assembly into EIF4F. Co-transcription of this gene and the neighboring upstream gene (MASK) 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. 1580863 15153109,9593750,16189514,15489334,14557257,14507920,12482586,12477932 8637 NM_003732,AC011399,CH471062,AF038869,BC010881,BC069293,BC073751 NP_003723,EAW62056,AAC39761,AAH10881,AAH69293,AAH73751,O60516 Hs.653135 GDB:9956085 4E-BP3 protein-coding 1320332 EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic;its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. 1580863 10856257,18343217,17567994,16713569,16699599,16189514,16157702,15840819,15489334,15461802,15345747,14702039,14651998,12477932 56478 NM_019843,AL096701,CH471095,AF240775,AK025254,AK074768,AK130061,BC012734,BC032941,BC033028,CR456386,CR601163,DQ656044 NP_062817,EAW59977,EAW59978,EAW59979,AAF81693,BAB15092,BAC11194,AAH12734,AAH32941,AAH33028,CAG30272,Q5TF32,Q5TF33,Q5TF34,Q5TF35,Q6PJR2,Q9NRA8,CAK54376,CAK54675,ABM83407,ABM86618 Hs.517559 GDB:11508377 4E-T|Clast4|FLJ21601|FLJ26551 protein-coding 1346321 EIF4EP1 eukaryotic translation initiation factor 4E pseudogene 1 9468520,1916814 1980 NG_002658,AL109935 EIF4EL2|dJ1022P6.3 pseudo 1314591 EIF4G1 eukaryotic translation initiation factor 4 gamma, 1 The protein encoded by this gene is a component of the protein complex EIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure, and recruitment of mRNA to the ribosome. Alternative splicing results in five transcript variants encoding four distinct isoforms. 10970864,10996799,12054647,14701818,15713657,8961935,9372926,8449919,12588972,15314020,9857202,18426977,18296639,17601486,17290396,17195095,17130132,17081983,16982693,16964243,16766523,16698552,16412378,16344560,16281055,16156639,15961545,15885108,15755734,15592455,15452223,15361857,15314025,15302935,15234964,15231748,15220445,15193258,15128869,15047801,14702039,14592777,12581158,12505164,12477932,12239292,12086624,12052860,11866104,11821405,11408474,11340157,11331597,11154262,10880459,10872469,10859165,10600798,10205060,9878069,9755181,9418880,9139875,9002667,8889548,8521827,8396129,7935836,7651417,7601469,1429670,14610163,12682023,12054764,11606767,12897141,17353931,15897904 1981 AK096719,AK128378,AK131407,AK226160,AL832754,AY082886,BC007788,BC010688,BC065256,BC082764,BC140892,BC140896,BT007282,BU176883,BU683097,BU944064,BX647812,CR597527,CR614210,CR622993,NM_198244,NM_198242,NM_182917,NM_004953,AC078797,AF004836,CH471052,AB210013,AF002815,AF002816,AF104913,AF281070,AJ001046,NM_198241,CR625406,D12686,DA456156,DB088474 BAD18554,AAL92872,AAH07788,AAI40893,AAI40897,AAP35946,CAI46013,CAA04500,NP_937884,NP_937887,NP_937885,NP_886553,NP_004944,AAC78444,EAW78257,EAW78258,EAW78259,EAW78260,EAW78261,EAW78262,EAW78263,EAW78264,EAW78265,EAW78266,EAW78267,EAW78268,BAE06095,AAC78442,AAC78443,AAC82471,AAM69365,BAA02185,O95065,Q04637,Q4LE58,Q96I65 Hs.433750 GDB:136417 DKFZp686A1451|EIF4F|EIF4G|p220 protein-coding 1313238 EIF4G2 eukaryotic translation initiation factor 4 gamma, 2 Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. 1580863 12477932,11511540,11331597,11175261,11172724,10611228,10394359,9878069,9373149,9372926,9049310,9027506,8125298,16166382,17353931,11943866,9032289,17237356,17195095,16932749,16410684,16344560,16289705,15718103,15489334,15361857,15345747,15302935,15231748,15016848,14702039,14507913,12703993,12665801,12505164 1982 NM_001042559,NM_001418,AC116535,CH471064,AB063323,AB209267,AI362365,AK123338,AK223548,AY513274,BC014930,BC018746,BC018975,BC039851,BC043149,BC065276,BC111415,BC111548,BX647799,CR598756,CR611226,CR614729,CR616787,DB072494,DB272352,U73824,U76111,X89713 NP_001036024,NP_001409,EAW68552,EAW68553,EAW68554,EAW68555,BAB93515,BAD92504,BAD97268,AAT08027,AAH14930,AAH18746,AAH18975,AAH39851,AAH43149,AAH65276,AAI11416,AAI11549,AAB49973,AAC51166,CAA61857,P78344,Q0VH01,Q2NKW9,Q2TU89,Q49A79,Q59G42 Hs.183684 GDB:6099614 AAG1|DAP5|FLJ41344|NAT1|p97 protein-coding 1322792 EIF4G3 eukaryotic translation initiation factor 4 gamma, 3 1580863 9418880,15361857,17353931,17081983,16964243,15489334,15016848,14507913,12975586,12663812,12477932,11172724,10872469,10737800,10022874,9878069,9857202,9373149,8125298,16189514 8672 BE159364,Z34918,AL031005,AL358392,AL606477,AL627311,AL672037,CH471134,AB209119,AF012072,AK225489,BC030578,BC072413,BC094683,NM_003760 AAH94683,CAA84397,O43432,Q504Z1,Q59GJ0,Q5SVN1,Q5SVN3,Q5SWC3,Q5SWD0,NP_003751,CAI12154,CAI12155,CAI12156,CAI12534,CAI12536,EAW94954,EAW94955,EAW94956,BAD92356,AAC02903,AAH30578 Hs.467084 GDB:9956221 eIF4GII protein-coding 1347903 EIF4H eukaryotic translation initiation factor 4H This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. 1580597,1580863 15592455,15489334,15078951,12853948,12690205,12665801,12477932,11418588,11003705,10585411,7584028,7584026,8812460,9516461,12588972,16189514,16094384,16014927 1580597 7458 NM_022170,NM_031992,AC005057,AC005081,AF045555,CH471200,AK290676,BC010021,BC021214,CR593131,CR595117,CR595248,CR595546,CR599580,CR599953,CR602647,CR608535,CR610962,CR611374,CR614031,CR615480,CR617014,CR621128,CR621172,CR623691,D26068,BC066928 NP_071496,NP_114381,AAS07439,AAS07440,AAS07403,AAC04859,AAF75557,EAW69615,EAW69616,EAW69617,EAW69618,EAW69619,BAF83365,AAH10021,AAH21214,AAH66928,BAA05063,Q15056,Q75MT8,Q75MU1,Q75MU2,ABM82850,ABM86037,ABM86038 Hs.520943 GDB:5886921 KIAA0038|WBSCR1|WSCR1 williams-beuren syndrome chromosome region 1 protein-coding 736122 EIF5 eukaryotic translation initiation factor 5 1580863 8663286,17081983,16781736,16584190,16227438,15489334,14702039,12569173,12477932,11861906,11331597,11230166,11092890,10982835,10805737,9973622,9395514,16189514 1983 CR620084,U49436,NM_001969,NM_183004,AL138976,CH471061,AK026933,AK027240,AK074470,AL080102,BC000106,BC007728,BC015630,BC032866,BC041083,BC107884,BF979642,BI459720,BX429104,BX537367,CR456712,CR601975,CR604880,CR612239 AAC50572,P55010,Q05DF3,Q32Q19,Q53XB3,Q6IBU0,ABM84408,NP_001960,NP_892116,EAW81808,EAW81809,EAW81810,EAW81811,BAB15593,CAB45711,AAH07728,AAH15630,AAH32866,AAI07885,CAD97610,CAG32993 Hs.433702 GDB:126411 EIF-5A eukaryotic initiation factor 5 (eif-5) protein-coding 1317562 EIF5A eukaryotic translation initiation factor 5A 10944119,10229683,9442029,9373149,9285095,8253832,8125298,7971969,7929297,7622067,7578077,7545941,3095320,2492279,1900436,1286667,16354571,16189514,15303967,9285100,15371445,1850732,14622290,17187778,9465063,12210765,10381392,16452303,8596953,7759117,18067580,17213197,17008552,16987817,16916647,16842744,16522190,16519677,16371467,15489334,15231747,12894223,12788913,12687616,12562768,12477932,11870779,11790298,11742107,11238447,11161802 1984 AAB29229 XM_001724572,AC026954,CH471108,U17969,AF087992,AF376057,AK222585,AK292615,AY129319,AY129320,AY129321,AY129322,BC000751,BC001832,BC030160,NM_001970,BC080196,BC085015,BC107779,CR595155,CR609459,CR622789,M23419 NP_001961,XP_001724624,EAW90219,EAW90220,EAW90221,EAW90222,AAA86989,AAL40917,BAF85304,AAN17514,AAN17515,AAN17516,AAN17517,AAN17518,AAH00751,AAH01832,AAH30160,AAH80196,AAH85015,AAI07780,AAA58453,AAB29229,P63241,Q53HJ5,Q8WXQ9,ABM83199,ABM86400 Hs.534314 GDB:126412 EIF-5A|EIF5A1|MGC104255|MGC99547|uORF|uORF A protein-coding 1314674 EIF5A2 eukaryotic translation initiation factor 5A2 1580863 14622290,16452303,11161802,17949776,17876542,16916647,16519677,16189514,16169419,15635413,15489334,15205331,12477932,11325856 56648 NM_020390,AC061708,AF293386,AF293387,CH471052,AY205258,AY205259,AY205260,AY205261,BC034420,BC036072 NP_065123,AAG23176,EAW78501,AAO18676,AAO18677,AAO18678,AAO18679,AAH36072,Q9GZV4,ABM81891,ABM85064 Hs.164144 GDB:10450391 EIF-5A2|eIF5AII protein-coding 1352580 EIF5AL1 eukaryotic translation initiation factor 5A-like 1 12477932 143244 NM_001099692,AL133481,BC070048 NP_001093162,AAH70048,Q6IS14 Hs.104825 bA342M3.3 protein-coding 1343057 EIF5AL2 eukaryotic translation initiation factor 5A-like 2 414248 1345697 EIF5AL3 eukaryotic translation initiation factor 5A-like 3 642592 NG_006529,AL359195,AL513174 pseudo 1353172 EIF5AP1 eukaryotic translation initiation factor 5A pseudogene 1 1286667,3095320,2492279,16916647,16519677,15489334,11742107,10944119,8253832,7759117,7622067,7545941 1985 NG_000859,AC068139,S72024 AAD14095 GDB:378209 pseudo 1350217 EIF5AP2 eukaryotic translation initiation factor 5A pseudogene 2 7759117,7545941 1986 NG_002746,AC021593,S72038 GDB:378211 pseudo 1343249 EIF5AP3 eukaryotic translation initiation factor 5A pseudogene 3 7759117,7545941 1987 NG_002725,AC011489,S72026 GDB:454046 pseudo 1353401 EIF5B eukaryotic translation initiation factor 5B Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. 1580863 12569173,10432305,10200264,17568775,17161026,17081983,16964243,16097034,15302935,14702039,12514125,12477932,11699879,9872452,16189514 9669 NM_015904,AC018690,AC079447,CH471127,AB018284,AF078035,AJ006412,AJ006776,AK001386,AL133563,BC006970,BC022260,BC032639,BX485839,CR604527,CR613918,CR617158 NP_056988,AAY24313,AAX93258,EAX01864,EAX01865,EAX01866,EAX01867,BAA34461,AAD16006,CAA07018,CAB44357,CAB63717,AAH06970,AAH22260,AAH32639,O60841,Q05CQ1,Q53RV7,Q53SI8,Q8N5A0 Hs.158688 DKFZp434I036|FLJ10524|IF2|KIAA0741 protein-coding 1313362 EIF6 eukaryotic translation initiation factor 6 Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple transcript variants encoding two different isoforms have been found for this gene. 1580863 15231747,17353931,9374518,17569113,17507929,16530192,16169070,15635413,15592455,15489334,15122657,14654845,12917340,12477932,11790298,11780052,11290417,11042152,10348637,10085284,9740680,9653160,9405604,16189514,10906324 3692 BC095465,BG334381,CR456764,CR592531,CR598892,CR599682,CR602132,CR607452,CR608963,CR619745,Y11435,NM_002212,NM_181468,AF289541,CH471077,CS072464,AB062289,AF022229,AF047433,AF401207,AL537456,BC001119,BC011845,BC019305,NM_181466 CAG33045,CAA72243,P56537,Q5JWN4,Q5JWN5,Q6IBN8,Q96TD5,ABM83518,ABM86737,NP_852131,NP_002203,NP_852133,AAK39426,EAW76219,EAW76220,EAW76221,CAI93602,BAB93472,AAB97735,AAC39897,AAH01119,AAH11845,AAH19305 Hs.654848 GDB:126363 2|CAB|EIF3A|ITGB4BP|b|b(2)gcn|gcn|p27BBP protein-coding 1344071 EJM1 epilepsy, juvenile myoclonic 1 1988 GDB:119864 1349631 EJM2 epilepsy, juvenile myoclonic 2 9259280 50715 GDB:9993310 1345242 EKV erythrokeratodermia variabilis 9843209 1989 GDB:119106 736392 ELA1 elastase 1, pancreatic Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas is actually referring to elastase 2A. 1580863 18362841,17989309,17103488,15489334,15351720,15277440,12477932,10686036,10620133,9187653,9175736,8864963,8575772,8114736,7759598,7634150,6191979,6153632,6150137,3648024,2456771,1633328,1079736,80233,11473259 1990 NM_001971,AC046135,AY740424,CH471111,D00159,X05293,X62258,AF120493,BC069454,BC075091 NP_001962,AAV88109,EAW58189,BAA00117,CAA28916,AAD28441,AAH69454,AAH75091,Q14237,Q9UNI1 Hs.348395 GDB:119866 protein-coding 1317469 ELA2 elastase 2, neutrophil Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Elastase 2 hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix following the protein's release from activated neutrophils. Elastase 2 may play a role in degenerative and inflammatory diseases by its proteolysis of collagen-IV and elastin of the extracellular matrix. This protein degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. 1598891,1580863 14705961,12393522,12887060,15140022,12223522,14730209,15010259,11928814,12114510,18399311,18295791,18278188,18043239,17785837,17761833,17690184,17622939,17436313,17412886,17397908,17395013,17187068,17088257,17023068,16690986,16670064,16624642,16551967,16321984,16282197,16244764,16148149,16127146,16079102,15941909,15892999,15718918,15657182,15614130,15601827,15595387,15489334,15245434,15161642,15131125,15059607,14962902,14688365,14673143,14636558,14587040,12934194,12893759,12876407,12853121,12782302,12778173,12771009,12745650,12700588,12538645,12531874,12526812,12483111,12477932,12444202,12190311,12183836,12117418,12091371,12083479,12068293,12042033,12020136,11948122,11846296,11675333,11520773,11389039,11001877,10924364,10867014,10859319,10702419,10581030,10512713,10471600,10102815,9565572,9242537,9124593,9111002,8864963,8718849,8463250,8011628,7713495,7521069,6980881,3640709,3550808,3479752,3427074,3422232,3391280,2911584,2902087,2822677,2775493,2681419,2538548,2501794,2462434,2437112,2322278,2318847,2164060,1859409,1558967,1518849,12933574 1598891 1991 NM_001972,NG_007274,AC004799,AC112706,AY596461,CH471139,M20199,M20200,M20201,M20202,M20203,Y00477,BC074816,BC074817,BI254663,D00187,J03545,M27783,M34379,X05875 NP_001963,AAS89303,EAW69589,AAA36359,CAA68537,AAH74816,AAH74817,BAA00128,AAA52378,AAA35792,AAA36173,CAA29299,CAA29300,P08246 Hs.99863 GDB:118792 GE|HLE|HNE|NE|PMN-E protein-coding 1602468 ELA2A elastase 2A Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. Clinical literature that describes human elastase 1 activity in the pancreas is actually referring to elastase 2A. 16710414,16247445,15489334,14702039,12477932,11729383,3646943,3427074,2834346,2307232 63036 NM_033440,AL512883,CH471167,AK056678,BC007031,BC069331,BC069432,CR450291,D00236,M16631,M16652 NP_254275,CAC42421,EAW51727,AAH07031,AAH69331,AAH69432,CAG29287,BAA00165,AAA52374,AAA52380,P08217,Q6ICV2,Q6ISN8,Q6ISU5 Hs.631866 ELA1|PE-1 protein-coding 1606295 ELA2B elastase 2B Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. 3427074,3646943,15489334,12477932 51032 BC069412,BC069455,BC113540,BC113542,BU070386,M16653,NM_015849,AL512883,CH471167 AAH69412,AAH69455,AAI13541,AAI13543,AAA52381,P08218,Q6ISM5,Q6ISP9,Q96QV5,NP_056933,CAC42422,CAI12970,EAW51728 Hs.631871 MGC142100|MGC142102|MGC97052|RP11-265F14.2 protein-coding 1346009 ELA3A elastase 3A, pancreatic Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. 1580863 2460440,2826474,15489334,12477932,12373299,9373149,8125298 10136 NM_005747,AL031281,AL590556,CH471134,M18700,AK225620,BC005918,BC007028,BC008383,BC015103,BI833796,D00306 NP_005738,CAH71874,CAH71875,CAH71876,CAH71877,EAW95000,EAW95001,AAA66350,AAH05918,AAH07028,AAH08383,AAH15103,BAA00212,P09093,Q5VU23,Q5VU25,Q5VU26,Q96QL8,ABM84108,ABM87489 Hs.654349 GDB:9955297 ELA3 elastase 3a, pancreatic (protease e) protein-coding 1317234 ELA3B elastase 3B, pancreatic Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. 1580863 2737288,2460440,2826474,18424365,16710414,15489334,14702039,12477932,3477287,3178837,2753124,2675835 23436 NM_007352,AL590556,CH471134,AK092382,BC005216,BI760781,BX497562,BX499439,M16630,M18692 NP_031378,CAH71871,CAH71872,EAW94998,EAW94999,AAH05216,AAA36482,AAA58454,P08861 Hs.181289 GDB:9956558 protein-coding 1312386 ELAC1 elaC homolog 1 (E. coli) 1580863 15489334,14702039,12711671,12477932,11401430,11175785,9373149,8125298 55520 Q53EY2,Q9H777 AB029151,AF308695,AI870985,AK024822,AK223507,BC014624,CR616451,NM_018696,AC087687,CH471096 EAW62983,EAW62984,BAA96799,AAG24917,BAB15021,BAD97227,AAH14624,Q53EY2,Q9H777,ABM83711,ABM87031,NP_061166 Hs.657360 GDB:11500739 D29 protein-coding 1342597 ELAC2 elaC homolog 2 (E. coli) 17353931,18375959,17145810,17081983,16636667,16114055,15824169,15714208,15489334,15368467,14719475,14702039,14625808,14504198,12949798,12783937,12711671,12700765,12569551,12552947,12522685,12515253,12477932,12384782,12373607,11522646,11507049,11431329,11281413,11254449,11254448,11175785,10986046,8889548,16189514,9858600,15593091 60528 AK094333,AK124838,AK094687,AK125030,BC001939,BC004158,BC046924,CB241821,CR457261,CR597306,CR620004,DB455960,NM_018127,AC005277,AF304369,AF304371,CH471108,AF304370,AK001392,AK074244,AK094012 BAC85964,BAC86026,AAH01939,AAH04158,CAG33542,Q9BQ52,Q9HAS7,NP_060597,AAG24440,AAG24439,EAW89961,EAW89962,EAW89963,EAW89964,AAG24441,BAA91666 Hs.434232 GDB:10029320 ELC2|FLJ10530|FLJ36693|FLJ42848|HPC2 2293362,2293416 PRSTS280_H,PRSTS282_H protein-coding 1318543 ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) The protein encoded by this gene is a member of the ELAVL protein family. This encoded protein contains 3 RNA-binding domains and binds cis-acting AU-rich elements. It destabilizes mRNAs and thereby regulates gene expression. 1580863 15231747,9003489,18285462,18202756,18180367,18095988,18027256,17967866,17878526,17626845,17599736,17581403,17548472,17534146,17531241,17517897,17392515,12855701,17317627,17237228,17178712,17132932,17081983,16990552,16935932,16912169,16890199,16820934,12477932,12821781,12730239,12431987,12242302,12237300,12011088,11971974,11834731,11729309,11565755,11018049,10848602,10660597,10629032,10079173,8889548,8626503,16189514,15861128,10964780,16788138,16581801,16494882,16484227,16455966,16289864,16135804,16109718,15914670,15824116,15635413,15514971,15489334,15371446,15342649,15328200,15257295,15175342,15037768,14981256,14981248,14715706,14702039,14562043,14559993,14530362,14517288,14517280,12933794 1994 AC008975,AC010336,CH471139,AI375368,AK022334,AK096659,AL713686,AW139417,BC003376,BM664469,BM696191,BT009793,BU542524,CR595470,U38175,W37464,NM_001419 NP_001410,EAW68949,EAW68950,AAH03376,AAP88795,AAB41913,Q15717,Q53XN6,ABW03681,ABW03336 Hs.184492,Hs.660070 GDB:3789393 ELAV1|HUR|Hua|MelG protein-coding 1314763 ELAVL2 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) 1580863 8158249,15671036,15489334,15164053,12477932,10848602,8907704,8812435,7972035 1993 NM_004432,AL161628,AL365204,AL445623,CH471071,AB209294,BC030692,BC035004,BC042393 NP_004423,EAW58581,EAW58582,EAW58583,EAW58584,EAW58585,EAW58586,BAD92531,AAH30692,Q12926,Q5JUB2,Q5JUB3,ABM82543,ABM85735,ABW03448 Hs.166109 GDB:4642831 HEL-N1|HELN1|HUB protein-coding 1343972 ELAVL3 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 16189514,15489334,12477932,12209604,10848602,10079173,9799595,7511893 1995 NM_032281,AC008481,AL512714,CH471106,AI199100,NM_001420,AY034002,AY036909,BC011875,BC014144,BC080533,BI117592,CR607440,CR623347,D26158,L26405 NP_001411,NP_115657,CAC21655,EAW84220,EAW84221,AAK57545,AAK67714,AAH11875,AAH14144,BAA21838,AAA58677,Q14576,Q96J71,Q9H024 Hs.1701 GDB:6282078 DKFZp547J036|HUC|HUCL|MGC20653|PLE21 protein-coding 1348119 ELAVL4 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) 1580863 1655278,10848602,10348344,18218628,17577668,17234598,17230446,16710414,16508003,16278682,16189514,15827745,15735910,15358174,14512168,12477932,12468554,12388589,12235292,12209604,12034726,11803489,11175903,9065557,8222755,8069866,2166930,1415481 1996 NM_021952,AL583843,AL592182,CH471059,AY033995,AY033996,AY033997,AY033998,BC036071,CR595508,CR613627,CR625475,M62843,S73887 NP_068771,EAX06841,EAX06842,EAX06843,EAX06844,EAX06845,AAK57538,AAK57539,AAK57540,AAK57541,AAH36071,AAA58396,AAD14142,P26378,Q16234,Q5SXT4,Q5SXT5,Q5SXT6,Q5SXT7,Q8IYD4,Q96J75,Q9UD24 Hs.213050 GDB:141875 HUD|PNEM protein-coding 734281 ELF1 E74-like factor 1 (ets domain transcription factor) 1580863 10207087,1527846,14970218,18314487,16964243,16464244,15907486,15566516,14702039,12727645,15302935,12477932,11884456,11331597,10976766,10377039,9668064,9524226,8756667,8493578,7862168,1545787,16189514 1997 AL157877,CH471075,AK095466,BC010575,BC030507,BX640798,CR607135,CR615244,M82882,NM_172373 CAI13220,CAI13221,EAX08640,EAX08641,AAH30507,CAE45881,P32519,Q5T9E7,Q6MZZ4,Q8N6F6,ABM82635,ABM85812,NP_758961 Hs.135646 GDB:131648 protein-coding 1321579 ELF2 E74-like factor 2 (ets domain transcription factor) 14970218,8756667,17368566,15489334,15302935,12477932,12447867,11967990,10207087,9001422 1998 NM_201999,NM_006874,AC024032,AC093602,AF256221,CH471056,AF256222,AF256223,BC034951,BC065025,BQ221720,CR603502,CR620999,U43188,U43189 NP_973728,NP_006865,EAX05123,EAX05124,EAX05125,EAX05126,AAF67195,AAF67196,AAH34951,AAH65025,AAB37759,AAB37760,AAB37761,Q15723,ABM81796,ABM84952 Hs.656593 GDB:1230387 EU32|NERF|NERF-1A|NERF-1B|NERF-1a,b|NERF-2 protein-coding 1626593 ELF2P1 E74-like factor 2 pseudogene 1 9001422 100101917 NG_006555,Z70273 pseudo 1626562 ELF2P2 E74-like factor 2 pseudogene 2 9001422 260335 NG_002340,AF256220,AL512329 pseudo 1626561 ELF2P3 E74-like factor 2 pseudogene 3 9001422 260336 NG_002341,AL772337 FLJ35866 pseudo 1626543 ELF2P4 E74-like factor 2 pseudogene 4 9001422 644935 NG_006556,AC080125 pseudo 1321734 ELF3 E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 10391676,12624109,15075319,9234700,10773884,14715662,18302674,18044710,17491012,17353931,17148437,17060315,16344560,15169914,14997048,14767472,14582709,12477932,12414801,12242338,12119107,12032832,11036073,10821850,10064583,9417054,9395241,9373149,9336459,9129154,8889548,8125298 1999 NM_001114309,AF110184,AL691482,BN000001,CH471067,AF016295,AF017307,AF517841,AK225446,BC003569,BM976796,BQ023145,BX093212,BX537368,CR457106,NM_004433,CR597744,CR598418,CR609083,CR612631,CV570925,CV570991,DA591406,U66894,U73843,U73844,U97156 NP_004424,NP_001107781,AAD45237,CAI14960,CAI14961,CAD29859,EAW91388,EAW91389,EAW91390,EAW91391,AAB96586,AAB67238,AAM70481,AAH03569,CAD97611,CAG33387,AAB58075,AAB65823,AAB65824,AAC51884,P78545,Q5SR36,ABM81617,ABM84800 Hs.67928 GDB:1230388 EPR-1|ERT|ESE-1|ESX protein-coding 1351734 ELF4 E74-like factor 4 (ets domain transcription factor) 10207087,14970218,14976184,8895518,9524226,14625302,16581786,16303180,15772651,15489334,15146197,15013761,12477932,12151102 2000 AK314972,BC017194,BC114355,BC114356,CD364651,CN314421,CR596374,DN999740,U32645,NM_001421,NM_001127197,AL136450,CH471107,Z81363,AF000670 AAH17194,AAB53693,Q5H9H5,Q99607,ABM83160,ABM86361,NP_001412,NP_001120669,EAX11813,EAX11814,AAC17452 Hs.271940 GDB:4244632 ELFR|MEF protein-coding 1314143 ELF5 E74-like factor 5 (ets domain transcription factor) The protein encoded by this gene is a member of an epithelium-specific subclass of the Ets transcritpion factor family. In addition to its role in regulating the later stages of terminal differentiation of keratinocytes, it appears to regulate a number of epithelium-specific genes found in tissues containing glandular epithelium such as salivary gland and prostate. It has very low affinity to DNA due to its negative regulatory domain at the amino terminus. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 9840936,16713569,16704374,16554811,16229011,16189514,15987600,15655699,15489334,14702039,12477932,12359648,10506207,9570133 2001 NM_001422,NM_198381,AL137224,CH471064,CQ783285,AF049703,AF115402,AF115403,AK074633,AK075197,AK290808,AK290817,BC029743,BG260616,DQ123839 NP_001413,NP_938195,EAW68168,EAW68169,CAF86494,AAC79755,AAD22960,AAD22961,BAC11101,BAF83497,BAF83506,AAH29743,AAZ98848,Q9UKW6,ABM82063,ABM85242 Hs.11713 GDB:9836230 ESE2 protein-coding 1642766 ELFN1 extracellular leucine-rich repeat and fibronectin type III domain containing 1 392617 XM_374386,XM_001732882,XM_001717054,XM_001132524,AC074389,CH236953,CH471144 XP_374386,XP_001732934,XP_001717106,XP_001132524,EAW87217 Hs.699532 protein-coding 1606182 ELFN2 extracellular leucine-rich repeat and fibronectin type III domain containing 2 17081983,16344560,12477932,11572484,10591208 114794 NM_052906,AL049850,CH471095,Z94160,AB067491,BC032082,BC032083,BC033336,BC041596,DA398675 NP_443138,EAW60159,CAI22122,BAB67797,Q5R3F8 Hs.660812,Hs.705655 KIAA1904|LRRC62|dJ63G5.3 protein-coding 1349633 ELK1 ELK1, member of ETS oncogene family This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 16291755,16533805,14970218,18316600,18172009,17967787,17898074,17804646,17724016,17591614,17499043,17296730,17203534,17146445,17074809,16490785,16297876,15920481,15808854,15782123,15772901,15772651,15576363,15489334,15449318,15351693,15210726,14992729,14702039,12947314,12887893,12665513,12660819,12514134,12477932,12473660,12409226,12242287,12077333,12023815,11313879,11279280,10997882,10947953,10742173,10716983,10231026,10022839,9795224,9644975,9570133,9235954,9130707,9010223,8941362,8889548,8798570,8622669,8586671,8575773,8548291,8386592,8208531,7927346,7889942,7540136,2539641,1630903,1547942,15638726,11726657,12594221,15806162,9020136,9155018,10431817 2002 NM_005229,NM_001114123,AB016194,AF080615,AF080616,AL009172,CH471164,AB016193,AF000672,AK093966,BC048296,BC056150,CB852603,CR542252,CR598341,M25269,AB209047 NP_005220,NP_001107595,BAA36617,AAC82466,CAA15659,EAW59321,EAW59322,EAW59323,BAA36616,AAD00862,BAC04259,AAH48296,AAH56150,CAG47048,AAA52384,P19419,Q59GR2,Q6FG56,Q86SR6,Q8N9S0,BAD92284 Hs.701980 GDB:119867 protein-coding 1351818 ELK2P1 ELK2, member of ETS oncogene family, pseudogene 1 12477932,10231026,9795224,8575773 2003 NG_001019,AF080617,AL928769 Q49AS2 GDB:119868 ELK2|ELK2.1|MGC39713 pseudo 1343176 ELK2P2 ELK2, member of ETS oncogene family, pseudogene 2 10231026,9795224 9995 NG_001019,AF080618,AL928742 GDB:9958565 ELK2.2 pseudo 1317143 ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) The protein encoded by this gene is a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. 1580863 12933792,7851904,7958835,18316589,15489334,15302935,12477932,11042694,10490644,10369679,9644975,9570133,8918463,7540136,16189514,15580297 2004 AAB34628 BC017371,CR542251,Z36715,NM_005230,AC008149,CH471054 AAH17371,CAG47047,CAA85309,AAB34628,P41970,ABM83880,ABM87200,NP_005221,EAW97561,EAW97562,EAW97563,EAW97564,EAW97565 Hs.591015 GDB:433758 ERP|NET|SAP2 protein-coding 1321444 ELK4 ELK4, ETS-domain protein (SRF accessory protein 1) This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. 1580863 1339307,7851904,12477932,11846562,11406578,10473620,10022839,9734357,9644975,9570133,9235954,8575773,8293474,7566098,7540136,11313879,9130707,9020136 2005 NM_001973,NM_021795,AC096533,CH471067,AI002107,AI005122,BC040145,BC063676,BE041598,BE675475,BE676052,BF433322,BX346360,CR623173,M85164,M85165,T27937 NP_001964,NP_068567,EAW91570,EAW91571,EAW91572,EAW91573,EAW91574,AAH40145,AAH63676,AAA03632,AAA03631,P28324,Q6GSJ2,Q8IXL1,ABZ91998 Hs.497520,Hs.602654 GDB:433755 SAP1 protein-coding 1322410 ELL elongation factor RNA polymerase II 1580863 8596958,17353931,17395368,12676794,16006523,15489334,12773566,12686606,12477932,12446457,11463848,11418481,11230166,10995463,10490622,10419521,10358050,9765201,9556611,9373149,9268387,8125298,8016121,7991593,12659632 8178 AC005387,AC010335,CH471106,AB208794,AF157562,AK225481,AK293105,AL136771,BC010010,BC033673,BC049195,NM_006532,BC064558,CR606202,U16282 NP_006523,AAC28752,EAW84707,EAW84708,BAD92031,AAD45322,BAF85794,CAB66705,AAH49195,AAH64558,AAA57120,P55199,Q59HG4,Q6P2F3,Q75MS0,Q9H0J5,Q9Y569 Hs.515260 GDB:450204 C19orf17|DKFZp434I1916|ELL1|Men protein-coding 1319566 ELL2 elongation factor, RNA polymerase II, 2 1580863 9108030,15489334,12477932,12446457,11752456,11418481 22936 NM_012081,AC008592,CH471084,U88629,AB209343,AV652801,BC028412,BC151238,BX538289 NP_036213,EAW96060,AAC51232,BAD92580,AAH28412,CAD98084,O00472,Q59FW6,Q7Z656,ABM82462,ABM85651 Hs.592742,Hs.708710 GDB:9957746 protein-coding 1320517 ELL3 elongation factor RNA polymerase II-like 3 10882741,15489334,14702039,12477932 80237 AC018512,CH471082,NM_025165,CS072259,AF276512,AI955716,AK026290,AK057528,AK126384,BC006548,BC019293,BC052599,BC062349,CR457358,CR599724,CR604506,CR606239 NP_079441,EAW77237,EAW77238,CAI93397,AAG13463,BAB15432,AAH06548,AAH19293,CAG33639,Q6I9Z7,Q9HB65 Hs.699876 FLJ22637 protein-coding 1317811 ELMO1 engulfment and cell motility 1 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. Similarity to a C. elegans protein suggests that this protein may function in apoptosis and in cell migration. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. 1580863 12029088,12879077,15247908,11595183,18095154,17671188,17173036,16344560,16213822,15952790,15793258,15723800,15700267,15489334,14737186,14702039,14638695,12829596,12690205,12477932,12134158,11230166,9179496,15620647,14645848 9844 BC114341,CR591268,CR613823,D87457,DB156714,NM_130442,NM_001039459,AC007349,AC007444,AC009196,AC078843,AC078844,AC083861,CH236951,CH471073,NM_014800,AF398885,AK001084,AK126565,AK291784,AL136787,BC003051,BC064635,BC077074 AAH77074,AAI14342,BAA13397,Q6ZTJ0,Q92556,NP_055615,NP_569709,NP_001034548,EAL23978,EAL23979,EAW94075,EAW94076,EAW94077,EAW94078,EAW94079,AAL14466,BAC86597,BAF84473,CAB66721,AAH03051,AAH64635 Hs.656638 GDB:9785455 CED-12|CED12|ELMO-1|KIAA0281|MGC126406 engulfment and cell motility 1 (ced-12 homolog, c. elegans) protein-coding 1314023 ELMO2 engulfment and cell motility 2 The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863 16381901,15951569,15809229,15592455,15489336,15489334,14702039,12879077,12477932,11780052,11703939,11595183,11347906,11230166,11076863 63916 NM_182764,BC014207,BC021079,BC036483,BX648819,AF398886,AL031686,AL133227,CH471077,AB058737,AF417861,AK021718,AK022731,AK023103,AK057032,AK092796,AL713765,AL833406,AY947527,BC000143,NM_133171 NP_877496,AAH14207,Q0JSA9,Q5BLP5,Q5JVZ4,Q5JVZ5,Q5JVZ8,Q5JW00,Q5JW01,Q7Z5G9,Q96JJ3,AAL14467,CAL38605,NP_573403,CAI40556,CAI40559,CAI40560,CAI40561,CAI40562,CAI40563,EAW75739,EAW75743,EAW75745,EAW75746,BAB47463,AAL38512,BAB13879,BAB14210,BAB14405,BAB71350,AAX21788,AAH00143 Hs.210469 GDB:11504499 CED-12|CED12|ELMO-2|FLJ11656|KIAA1834 engulfment and cell motility 2 (ced-12 homolog, c. elegans) protein-coding 1312348 ELMO3 engulfment and cell motility 3 The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. 1580863 16344560,15489334,14702039,12477932,11595183 79767 NM_024712,AC040160,CH471092,AI955864,AK023886,AK056923,BC015524,BC034410,DA872517 NP_078988,EAW83097,EAW83098,BAB14712,AAH15524,AAH34410,Q96BJ8,ABM82258,ABM85441 Hs.377416 GDB:11504413 CED-12|CED12|ELMO-3|FLJ13824 engulfment and cell motility 3 (ced-12 homolog, c. elegans) protein-coding 1349956 ELMOD1 ELMO/CED-12 domain containing 1 737633,1580863 16189514,15489334,14702039,12477932 737633 55531 NM_018712,AP000889,AP002353,CH471065,AK054794,AL359601,BC028725 AAH28725,Q8N336,NP_061182,EAW67091,EAW67092,CAB94879 Hs.495779 DKFZp547C176 protein-coding 1352550 ELMOD2 ELMO/CED-12 domain containing 2 737633,1580863 17452337,16773575,15489334,12477932,12879077 737633 255520 NM_153702,AC093671,CH471056,BC015168,BX648349,BX648843,CR596650,CR600920 NP_714913,EAX05096,EAX05097,AAH15168,Q8IZ81 Hs.450105 9830169G11Rik|MGC10084 elmo domain containing 2 protein-coding 736469 ELN elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. 1580326,1580327,1580328,1580157,1580330,1601026,1580863 17724138,17693470,17672902,17626896,17591890,17567153,17287949,17255108,17227755,17139263,17037986,16982955,16899711,16878986,16829682,16820942,16691586,16675961,16611674,16574921,16381901,16374472,16303743,16161116,16085695,16081882,16078697,16042404,15961300,15944607,15925490,15890991,15890261,15866738,15860743,15774842,15748998,15721581,15698546,15681698,15654955,15550396,15537639,15489336,15489334,15381555,15342556,15297630,15233806,15218274,15134831,15036271,15009703,14702039,14500713,12853948,12690215,12679320,12618961,12555228,12477932,12102453,12029074,12016585,11911775,11867344,8096434,9873040,9607766,9580666,18348261,18326737,17999374,17929969,17727474,11809415,11735026,11723132,11711520,11230166,11175284,11076863,11071917,11003705,10942104,10825173,10544250,10536372,10471600,10190538,10190324,9819363,9745729,9373149,9215671,9215670,8947836,8812460,8761465,8689688,8541862,8132745,8125298,7693128,6912069,3840328,3171221,3039501,3038460,2831431,2722804,2093478,2014796,1372742 1580326,1580327,1580328,1580157,1580330,1601026 2006 U62292,U63721,U77846,U93037,X15603,AB208942,AF086171,AK075494,AK075554,AK092232,AK094138,AK095990,AK122731,AK125511,AK130894,AK225659,BC035570,BC050379,BC065566,BP284909,BX537939,BX538199,CR590609,CR607863,M24782,M17281,M17282,NM_001081753,NM_000501,NM_001081755,NM_001081752,AC005056,CH471200,NM_001081754,M36860,X52896,M26867,CQ796435,J04821,M16983,M17265,M17266,M17267,M17268,M17269,M17270,M17271,M17272,M17273,M17274,M17275,M17276,M17277,M17278,M17279,M17280 AAC98393,AAC98394,AAB17544,AAC13884,AAC99789,AAB65620,AAB65621,CAA33627,BAD92179,BAC11651,BAC11696,BAC85506,BAC86188,AAH65566,CAD97910,CAD98065,NP_001075223,NP_001075222,NP_000492,NP_001075224,NP_001075221,AAS07435,EAW69624,EAW69625,EAW69626,EAW69627,EAW69628,EAW69629,EAW69630,EAW69631,EAW69632,AAA53190,AAA52382,P15502,Q0JTE4,Q59H17,Q6ZUN2,Q8N2G0,Q8NBI4,Q9UME9,Q9UMK5,CAL38219,EAW69633,EAW69634,EAW69635,EAW69636,CAG26527,AAA52379,AAC98395 Hs.647061 GDB:119107 FLJ38671|FLJ43523|SVAS|WBS|WS elastin protein-coding 1348670 ELNL1 elastin-like 1 7956370 2007 GDB:369075 1354404 ELNR1 elastin receptor 1, 67kDa 2008 GDB:127960 1601839 ELOF1 elongation factor 1 homolog (S. cerevisiae) 16730941,16260625,16189514,15489334,14702039,12477932 84337 P60002 AC008481,CH471106,AK001171,AK097850,BC007516,BG424379,BG718042,CR593556,NM_032377 NP_115753,EAW84230,EAW84231,AAH07516,P60002 Hs.631633 ELF1 protein-coding 1349015 ELOVL1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 1580863 17353931,15489334,14702039,12477932,10810093,9373149,8125298 64834 NM_022821,AL139289,CH471059,AF151846,AF336793,AK001653,AK130174,AK222498,BC000618,BC095456,BU180063,BU786323,CR590301,CR592943,CR596193,CR598270,CR600285,CR600869,CR606895,CR608264,CR616210,CR617225,CR620696,CR622911,CR623988,CR624095 NP_073732,EAX07100,AAD34083,AAL71993,BAA91813,BAD96218,AAH00618,AAH95456,Q502X7,Q9BW60 Hs.25597 GDB:11508574 CGI-88|Ssc1 protein-coding 1318475 ELOVL2 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2 1580863 17583696,16564093,14702039,12477932,12371743 54898 NM_017770,AL121955,CH471087,AJ420504,AK000341,AL080199,BC050278,BC060809,CR610373 NP_060240,CAI22076,EAW55290,EAW55291,EAW55292,BAA91096,AAH50278,AAH60809,Q9NXB9 Hs.656436 GDB:11508572 FLJ20334|SSC2 protein-coding 1316352 ELOVL3 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3 ELOVL3 plays a role in fatty acid chain elongation and formation of neutral lipids required for skin barrier function (Westerberg et al., 2004 [PubMed 14581464]).[supplied by OMIM] 1580863 15489334,14581464,12477932,10429212 83401 NM_152310,AF292387,AL160011,CH471066,BC034344 NP_689523,AAG17875,CAH71623,EAW49711,AAH34344,Q5VZL3,Q9HB03 Hs.302130 GDB:11508934 CIG-30|CIG30|MGC21435 protein-coding 1313772 ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. 1580863,1598895 11138005,17356513,17210851,17000705,16885922,16476896,16364203,16344560,16036915,15930014,15489334,15028284,14702039,14574404,12967813,12824221,12592226,11581213,12477932,11474659,10218695,8002834,8002833 1598895 6785 NM_022726,AF279654,AL132875,AL133475,CH471051,AF277094,AJ420478,AK055277,AK310625,AK312511,AY037298,BC038506,DA122864 NP_073563,AAG47669,CAI23374,CAI20320,EAW48701,AAG47668,BAB70895,BAG35412,AAK68639,AAH38506,Q9GZR5,ABM82155 Hs.101915 GDB:11499609 ADMD|FLJ17667|FLJ92876|STGD2|STGD3 protein-coding 1353049 ELOVL5 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) ELOVL5 plays a role in elongation of long-chain polyunsaturated fatty acids (Leonard et al., 2000 [PubMed 10970790]).[supplied by OMIM] 1302211,1580863 16303743,16273301,15489334,14702039,14574404,12477932,11230166,10970790,9110174,8619474 1302211 60481 NM_021814,AL034374,CH471081,CQ782857,AB209798,AF052129,AF111849,AF231981,AF338241,AK074748,AK074889,AK125098,AL136939,BC009838,BC017270,BC067123,BC074503,CR597148,CR599163 NP_068586,CAI21530,CAI21531,EAX04413,EAX04414,EAX04415,EAX04416,EAX04417,EAX04418,EAX04419,EAX04420,EAX04421,EAX04422,CAF86084,BAD93035,AAF16688,AAF70631,AAM00193,BAC11178,BAC11270,CAB66873,AAH17270,AAH67123,Q9NYP7 Hs.520189 HELO1|RP3-483K16.1|dJ483K16.1 protein-coding 1345221 ELOVL6 ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM] 1302212,1580863 15815621,15489334,14702039,12477932,11567032 1302212 79071 NM_024090,AC004050,AC093770,CH471057,AK027031,AK074813,AK074882,BC001305 NP_076995,AAY40928,EAX06258,EAX06259,EAX06260,BAB15632,BAC11225,AAH01305,Q9H5J4 Hs.412939 FACE|FAE|FLJ23378|LCE|MGC5487 protein-coding 1321534 ELOVL7 ELOVL family member 7, elongation of long chain fatty acids (yeast) 16344560,12477932 79993 NM_001104558,NM_024930,AC104113,AC109133,AC109579,CH471123,AB181393,AI769834,AK027216,AL137506,BC094792,BC130310,BC130312,DA247166 NP_001098028,NP_079206,EAW55001,EAW55002,BAD93238,BAB15697,CAB70777,AAI30311,AAI30313,A1L3X0 Hs.274256 FLJ23563 protein-coding 1315022 ELP2 elongation protein 2 homolog (S. cerevisiae) 12477932,11818576,10954736,9373149,8125298,11714725,15489334,14702039 55250 NM_018255,AC023043,AC091060,CH471088,AF332505,AF403223,AK001741,AK022709,AK222791,AK293051,BC007098,BC009211,BC032553,CR457269,CR602393 NP_060725,EAX01373,EAX01374,EAX01375,EAX01376,AAK97355,AAQ03093,BAA91874,BAB14193,BAD96511,BAF85740,AAH09211,AAH32553,CAG33550,Q6IA86 Hs.8739 FLJ10879|SHINC-2|STATIP1|StIP protein-coding 1316051 ELP3 elongation protein 3 homolog (S. cerevisiae) 1580863 11714725,11818576,17558451,16381901,16344560,15761153,15489336,14702039,12477932,11256614,11230166,11076863,9373149,8889548,8543574,8125298,10936,14743216,15616580 55140 DA787116,DA150994,NM_018091,AC019031,AC021678,CH471080,AK001284,AK022626,AK223047,AL834273,BC001240,BM663362,BX648011,CR618264 Q9H9T3,CAL37511,NP_060561,EAW63528,EAW63529,BAA91600,BAB14138,BAD96767,CAD38948,AAH01240,CAH10573 Hs.491336 FLJ10422|KAT9 protein-coding 1352223 ELP4 elongation protein 4 homolog (S. cerevisiae) This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. 12477932,11889558,11435442,11230166,11076863,11714725,11818576,16381901,15489336,15473317 26610 AL136677,BC012514,CR604657,CR610736,CR611102,NM_019040,AC108456,AC131571,AJ276005,AL390767,CH471064,Z83307,AK000505 CAB66612,AAH12514,Q96EB1,Q9H4R8,CAL38337,CAL38732,ABM82394,ABM85577,NP_061913,CAC08200,CAC10331,EAW68237,EAW68238,CAM13056,BAA91212 Hs.175534 GDB:11508592 C11orf19|FLJ20498|PAX6NEB|PAXNEB|dJ68P15A.1 protein-coding 1354263 ELSPBP1 epididymal sperm binding protein 1 The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arranged fibronectin type 2 (Fn2) domains in the Fn2-module protein family. 17910069,17307309,12477932,11144225,10502414,8159721 64100 NM_022142,AC010330,CH471177,AF279147,AJ278478,BC015598 NP_071425,EAW52309,AAK69481,CAC14267,AAH15598,Q96BH3 Hs.104894 GDB:11508573 E12|HE12 protein-coding 1347532 ELTD1 EGF, latrophilin and seven transmembrane domain containing 1 632805,1580863 15203201,16344560,16335952,15489334,12975309,12477932,11181995,11050079 632805 64123 NM_022159,AC098651,AC099674,AL596269,CH471059,AB032017,AF192403,AK129766,AK172750,AK292894,AY358360,BC025721,DA477962 NP_071442,EAX06345,EAX06346,BAD83584,AAG33021,BAD18736,BAF85583,AAQ88726,AAH25721,Q5KU34,Q5SWW2,Q5SWW3,Q6ZMI9,Q9HBW9 Hs.132314 ETL|KPG_003 protein-coding 1342878 EMB embigin homolog (mouse) 632509 15489334,15024082,12477932,9438341,2963822 632509 133418 BC059398,CR621536,CR625471,NM_198449,AC035145,AC091833,CH471123 EAW54852,EAW54853,EAW54854,AAH59398,Q6PCB8,NP_940851 Hs.645309 MGC71745 protein-coding 1602001 EMCN endomucin EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM] 15249540,11594763,11418125,15489334,14722670,12485444,12477932,12087473,12000719,9373149,8125298 51705 NM_016242,AC097459,CH471057,CS104348,AB034695,AF205940,AK026875,AK222741,AK291831,AY039241,BC017781 NP_057326,AAY41011,EAX06121,EAX06122,CAJ01219,BAA86228,AAF76295,BAD96461,BAF84520,AAK68660,AAH17781,Q4W5J1,Q53H40,Q9ULC0 Hs.152913 EMCN2|MUC14 protein-coding 735605 EMD emerin (Emery-Dreifuss muscular dystrophy) Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. 1598907,1580863 15009215,16169070,7894480,8589715,17785515,17652388,17620497,17536044,17462627,9673989,9472006,9442884,9361031,8733135,8655156,8595407,8248200,16738646,17117676,17097067,17081983,17067998,16997877,16858403,16823856,16761279,16680152,16481476,16381901,16371512,16283426,16246140,16212419,16204256,16189514,16094384,15681850,15592455,15489336,15489334,15328537,15144186,15109603,12783988,12755701,12670476,12665801,12493765,12477932,12163176,11973618,11792822,11792821,11587540,11470279,11435115,11173535,11076863,11034899,10965799,10673356,10323252 1598907 2010 CR536536,CR591915,CR598116,CR607659,CR609721,CR614842,CR617769,CR618160,X82434,NM_000117,BX936346,CH471172,D64111,L44140,X86810,BC000738,BT007401 AAP36065,CAG38773,CAA57817,P50402,Q6FI02,CAL38599,NP_000108,CAI43228,CAI43229,EAW72742,EAW72743,BAA10972,AAA92645,CAA60500,AAH00738 Hs.522823 GDB:119108 EDMD|LEMD5|STA emerin protein-coding 1319200 EME1 essential meiotic endonuclease 1 homolog 1 (S. pombe) EME1 and MUS81 (MIM 606591) form an endonuclease complex that cleaves branched DNA structures, especially those arising during stalled DNA replication (Abraham et al., 2003 [PubMed 14609959]).[supplied by OMIM] 1580863 18310322,17081983,16456034,15489334,15302935,14702039,14617801,14609959,12721304,12686547,12477932,16189514 146956 NM_152463,AC004707,CH471109,AK055926,BC016470,CR625324 NP_689676,EAW94617,EAW94618,EAW94619,EAW94620,EAW94621,BAB71047,AAH16470,Q96AY2 Hs.514330 FLJ31364|MMS4L protein-coding 1344240 EME2 essential meiotic endonuclease 1 homolog 2 (S. pombe) EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM] 17289582,12721304,12477932,11157797 197342 NM_001010865,AC012180,AE006639,CH471112,AK074080,BC041011,EF452422 NP_001010865,AAK61292,EAW85626,BAB84906,ABO21766,A4GXA9 Hs.7247 FLJ00151|gs125 protein-coding 1607076 EMG1 EMG1 nucleolar protein homolog (S. cerevisiae) EMG1 plays a role in the processing of the pre-18S rRNA and small ribosomal subunit assembly (Liu and Thiele, 2001 [PubMed 11694595]) and may play a role in methylation during ribosome biogenesis (Eschrich et al., 2002 [PubMed 11935223]).[supplied by OMIM] 15590835,16344560,15489334,12477932,11935223,11790298,11694595,9074930,8889548,7566098 10436 NM_006331,CH471116,U47924,AA314580,AK291597,BC055314,BM709304,BQ015307,CD704778,CR623901,DA070200,U56427,U72514 NP_006322,EAW88694,EAW88695,EAW88696,EAW88697,EAW88698,AAB51325,BAF84286,AAH55314,AAC51641,Q92979 Hs.558447 C2F|Grcc2f|NEP1 protein-coding 1349411 EMID1 EMI domain containing 1 737633,1580863 15489334,15461802,14702039,12477932,12221002 737633 129080 NM_133455,AL031186,CH471095,Z95116,AJ416090,AK097163,AL831910,BC013830,BC046358,CR456407,CR618329,CR625040,CR625579 NP_597712,CAQ10929,CAQ10941,CAQ10942,CAQ10943,CAQ10944,CAQ10945,EAW59776,EAW59777,CAC94777,CAD38573,AAH46358,CAG30293,Q5THK9,Q8NDR2,Q96A84,CAK54396,CAK54695 Hs.289106 EMI5|EMU1|MGC50657|hEmu1 protein-coding 1345849 EMID2 EMI domain containing 2 1580863 16713569,12477932,12221002,12145293,10464311,8595806,2674742 136227 NM_133457,AC004953,AC004965,CH471197,AJ416091,BC040052,BC109254,BC110393 NP_597714,EAW50221,EAW50222,CAC94778,AAI09255,AAI10394,Q32M90,Q96A83 Hs.654854 COL26A1|EMI6|EMU2|MGC129848|hEmu2 protein-coding 1322548 EMILIN1 elastin microfibril interfacer 1 1580958,1580863 11278945,10358019,17988845,16303743,16263699,16189514,16021519,15489334,15146197,15017143,12477932,12456677,11012893,10821830,10625608 1580958 11117 NM_007046,AC013403,AF162780,CH471053,AF088916,AK075517,AL050138,BC007530,BC009947,BC017284,BC090957,BC142638,BC142688,CN350368 NP_008977,AAX93166,AAF25006,EAX00644,EAX00645,EAX00646,EAX00647,AAD42161,CAB43287,AAH07530,AAH09947,AAI42689,Q53SY9,Q96IH6,Q9Y6C2 Hs.63348 DKFZP586M121|EMILIN|EMILIN-1|gp115 protein-coding 1313316 EMILIN2 elastin microfibril interfacer 2 1580863 11278945,17988845,17698584,14702039,12477932 84034 NM_032048,AP000919,AP001011,CH471113,AB026706,AF270513,AI356740,AK090519,AL552384,BC032231,BC136541,BX398832,CR609164,CR624674,CR608972 NP_114437,EAX01690,BAB61020,AAK37963,BAC03470,AAH32231,AAI36542,Q8N5L1,Q9BXX0 Hs.532815 EMILIN-2|FLJ33200|FOAP-10 protein-coding 1320036 EMILIN3 elastin microfibril interfacer 3 18158787,15489334,14706625,12477932,12221002,11780052 90187 NM_052846,AL031667,CH471077,AB089149,AL137580,BC101043,BC101044,BC101045,BC101046 NP_443078,CAI42976,EAW75983,EAW75984,BAD11034,CAB70822,AAI01044,AAI01045,AAI01046,AAI01047,Q495S5,Q495S7,Q9NT22 Hs.25897 C20orf130|DKFZp434A2410|EMILIN5|dJ620E11.4 protein-coding 1343308 EML1 echinoderm microtubule associated protein like 1 Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. 1580863 9226380,16189514,14702039,12477932,11829466,10521658,9738858,9110174,8619474,1478676 2009 NM_001008707,NM_004434,AJ420603,AL133368,AL136000,CH471061,AF035276,AK023861,AK126980,BC032541,BC033043,BX247979,BX420178,BX442035,U97018 NP_001008707,NP_004425,CAD12600,EAW81679,EAW81680,EAW81681,AAH32541,AAH33043,CAD62313,AAB57824,O00423,ABM82482,ABM85669 Hs.12451 GDB:6328385 ELP79|EMAP|EMAPL|FLJ45033|HuEMAP protein-coding 734198 EML2 echinoderm microtubule associated protein like 2 1580863 17353931,10521658,15489334,12477932,11694528,9373149,8125298 24139 NM_012155,AC011480,AC098776,CH471126,AB209773,AF103939,AK026616,AK225043,AL096717,BC029304,BC032630 NP_036287,EAW57369,EAW57370,BAD93010,AAD19904,CAB46373,AAH32630,O95834 Hs.24178 GDB:11505982 ELP70|EMAP-2|EMAP2 protein-coding 1606414 EML3 echinoderm microtubule associated protein like 3 17353931,15324660,15225882,15146197,14744259,14702039,12477932 256364 AP001458,CH471076,AK093146,AK128679,AL833388,BC050467,BC075824,BC108280,CN386216,CN386217,NM_153265,CR601049 NP_694997,EAW74033,EAW74034,EAW74035,EAW74036,EAW74037,EAW74038,EAW74039,EAW74040,BAC04073,BAC87566,AAI08281,Q32P44 Hs.379785 ELP95|FLJ35827|MGC111422 protein-coding 1351948 EML4 echinoderm microtubule associated protein like 4 1580863 17353931,10995578,18320074,18166835,17081983,16890222,15815621,15592455,15489334,15302935,14702039,12477932,9110174,8619474 27436 NM_019063,AC006038,AC083949,AC096668,CH471053,AF131753,AF177377,AK001804,AK021782,AK056880,AK172777,AL832392,BC008685,BC023522,BC038351,BC067777,BC104647,BC140845,BC146799,BX647693,BX647731 NP_061936,AAY15086,AAX82006,AAY14895,EAX00324,AAG09279,BAA91919,AAH08685,AAH23522,AAI04648,AAI40846,AAI46800,Q96HE3,Q9HC35 Hs.593614 GDB:11505447 C2orf2|DKFZp686P18118|ELP120|FLJ10942|FLJ32318|ROPP120 protein-coding 1350172 EML5 echinoderm microtubule associated protein like 5 15225882,14702039,12477932 161436 NM_183387,AL121768,AL162171,CH471061,AK122823,AK122824,AK127024,AK128086,AY357725,BC032685,BC042055,BM893636,BX648569,CR933726 NP_899243,EAW81393,EAW81394,BAC86793,BAC87266,AAQ62653,AAH32685,Q05BV3,CAI46257 Hs.705458 DKFZp781D1122|EMAP-2|HuEMAP-2 protein-coding 735990 EMP1 epithelial membrane protein 1 1342449,1580863 8996089,7499420,8884260,16087880,15489334,12632483,12477932,12451984,10331954,9126480,9066625,8683158 1342449 2012 NM_001423,AC022276,AC079628,CH471094,BC017854,BC047300,CR608144,U43916,U77085,Y07909,Z50751 NP_001414,EAW96304,EAW96305,EAW96306,AAH17854,AAH47300,AAC51783,AAC51207,CAA69217,CAA90627,P54849,Q8WWD6 Hs.705477 GDB:9754126 CL-20|EMP-1|TMP protein-coding 1344065 EMP2 epithelial membrane protein 2 1580863 8996089,8884260,18400107,17609206,17544801,16216233,15489334,14702039,12710941,12477932,11752456,11713717,10331954,8917086,12782127 2013 AC027277,AY057060,CH471112,AF190163,AK096403,AK123602,AK127600,AV657588,BC009687,BF981157,BM755118,BQ676037,BU838264,U52100,NM_001424,X94770 NP_001415,AAL27085,EAW85180,EAW85181,EAW85182,AAQ13707,BAC04779,AAH09687,AAC51779,CAA64393,P54851,Q7Z4B3,Q8N8N9 Hs.531561,Hs.655130 GDB:9754127 MGC9056|XMP protein-coding 731841 EMP3 epithelial membrane protein 3 1580863 8996089,17610521,17187361,16015083,15583422,15489334,12477932,12107182,10331954,9204931,8917086,8884260,12524525,12032157 2014 NM_001425,AC008392,CH471177,AL541088,BC009718,BT007124,CR456871,CR541955,CR598652,CR612472,U52101,U87947,X94771 NP_001416,EAW52333,EAW52334,AAH09718,AAP35788,CAG33152,CAG46753,AAC50920,AAC51730,CAA64394,P54852,Q6FH01,Q6IBD3,ABM92261,ABM84749 Hs.9999 GDB:9754128 YMP protein-coding 1342649 EMR1 egf-like module containing, mucin-like, hormone receptor-like 1 This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. 1580863 7601460,17823986,15489334,12477932,10903844,10501980,9500513,9383301 2015 NM_001974,AB065918,AC020895,AC025278,CH471139,CS173019,DQ217942,AK131562,AK290401,AK291518,BC059395,X81479 NP_001965,BAC06133,EAW69055,EAW69056,CAJ33691,ABB70739,BAD18695,BAF83090,BAF84207,AAH59395,CAA57232,Q14246,Q2I7G5,Q6ZMN0 Hs.2375 GDB:378349 TM7LN3 protein-coding 1345702 EMR2 egf-like module containing, mucin-like, hormone receptor-like 2 This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 3 on chromosome 19. This protein does not interact with the ligand decay accelerating factor for complement, unlike the related CD97 antigen, and indicates that these very closely related proteins likely have nonredundant functions. This gene results in multiple transcripts encoding distinct isoforms. 15203201,18267122,17928360,17174274,15150276,15057824,14702039,12860403,12829604,12477932,11994511,11297558,10903844,9373149,8125298 30817 NM_152917,NM_152921,NM_152916,NM_152920,NM_013447,NM_152919,AB065931,AC004262,AC005327,AC090427,CH471106,AF114491,AK024426,AK024454,NM_152918,AK222891,AK291776,BC034949,BC053933,BC082991,BC127004,BC127005,BG720310,CR936819 NP_690882,NP_690881,NP_690885,NP_690880,NP_690884,NP_038475,NP_690883,BAC06146,AAC05172,EAW84445,EAW84446,EAW84447,EAW84448,AAF21974,BAB15716,BAB15744,BAD96611,BAF84465,AAH34949,AAH53933,AAI27005,AAI27006,Q53GP0,Q7Z618,Q9H7M4,Q9H7Q2,Q9UHX3 Hs.531619 GDB:10796176 CD312|DKFZp781B135 protein-coding 1606765 EMR3 egf-like module containing, mucin-like, hormone receptor-like 3 This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. 15203201,17108056,17081983,12975309,12477932,11279179 84658 AC022149,AC090427,AC135052,CH471106,AF239764,AK290909,AL832663,AW450761,AY358817,BC121130,BC121131,BC128053,BC142639,BC148282,NM_032571 NP_115960,EAW84438,EAW84439,EAW84440,AAK15076,BAF83598,AAQ89176,AAI21131,AAI21132,AAI28054,AAI48283,Q0IJ52,Q0IJ53,Q9BY15,AAI66661 Hs.658712 protein-coding 1606914 EMR4 egf-like module containing, mucin-like, hormone receptor-like 4 This gene is a member of the EGF-TM7 receptor gene family which is thought to play a role in leukocyte adhesion and migration. In other vertebrates, including nonhuman primates, this gene encodes a protein containing N-terminal EGF domains and a C-terminal transmembrane domain. Sequence evidence for the human gene, however, indicates nucleotide deletion in the genomic sequence would result in frameshift and early termination of translation. Thus, the protein would lack a transmembrane domain and the protein encoded by this gene would be soluble rather than expressed on the cell surface. As the encoded protein has not been detected, the possibility also exists that this gene may represent a transcribed pseudogene. 15203201,16753812,12731063,12679517,12565841,11181995 326342 NM_001080498,AC025278,CH471139,AF489700,AY181245,AY255550 Q86SQ3,AAI52959,NP_001073967,EAW69053,EAW69054,AAO27357,AAO85062 Hs.688043 GPR127|PGR16 protein-coding 1352342 EMWX episodic muscle weakness, X-linked 10486330 10118 GDB:9955260 1345106 EMX1 empty spiracles homeobox 1 1580863 15815621,15489334,14702039,12477932,10669604,8843394,7959790,7601155,1352754 2016 NM_004097,AC012366,CH471053,AK092368,BC037242,BC045762,BE501779,CB156771,CR592760,X68879 NP_004088,AAY14744,EAW99755,EAW99756,AAH37242,AAH45762,CAA48750,Q04741 Hs.516090 GDB:277885 empty spiracles homolog 1 (drosophila) protein-coding 1322367 EMX2 empty spiracles homeobox 2 The homeodomain transcription factor EMX2 is critical for central nervous system and urogenital development. EMX1 (MIM 600034) and EMX2 are related to the 'empty spiracles' gene expressed in the developing Drosophila head.[supplied by OMIM] 1580863 15247416,18409201,17563403,17506092,15294144,15126568,14702039,12573261,12482956,12477932,12185771,11549315,11230166,8528262,7959790,1352754 2018 NM_004098,AC005871,CH471066,AF301598,AI701984,AK055041,AL161811,BC010043,CR602505,X68880 NP_004089,EAW49425,AAK95496,BAB70842,CAB82104,CAA48751,Q04743,AAI52826 Hs.202095 GDB:277886 empty spiracles homolog 2 (drosophila) protein-coding 1352483 EMX2OS empty spiracles homeobox 2 opposite strand 12573261,12477932 196047 NR_002791,AC005871,AK123533,AL137578,AY117034,AY117413,BC040186 Hs.312592 FLJ41539 miscrna 1351603 EN1 engrailed homeobox 1 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. 1580863 11551904,11076863,11069920,9169834,7777574,2567700,1363401,8094370,8684466,16730693,16571670,15839736,15240857,12477932 2019 NM_001426,NG_007123,AC012665,CH471103,L12698,L12699 NP_001417,AAX88967,EAW95205,EAW95206,AAA53502,Q05925,Q4ZG44,AAI11841 Hs.271977 GDB:119869 engrailed homolog 1 protein-coding 1343015 EN2 engrailed homeobox 2 Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. 1358567,1358620,1580863 1672471,18424904,17948901,17948868,17267560,16941662,16252243,16007149,15489334,15253423,15024396,12853948,12690205,12642491,12525552,12477932,11815869,10581478,10552924,10417292,10196369,9847074,9546821,9169834,7777574,2567700,2565873,1363401 1358567,1358620 2020 NM_001427,NG_007124,AC008060,CH236954,CH471149,J03066,L12700,L12701,BC104970,BC104972,H16179 NP_001418,AAQ96875,EAL23909,EAX04535,AAF68670,AAA53504,AAI04971,AAI04973,P19622,Q9UD58 Hs.134989 GDB:119870,GDB:9864226 AUTS1|AUTS10 engrailed homolog 2 protein-coding 1316988 ENAH enabled homolog (Drosophila) 1580863 18158903,17081983,16964243,16710414,16533770,16494957,16336193,15556561,15489334,15469846,15469845,15148305,15027125,14702039,14506234,12967995,12941633,12695497,12672821,12571287,12477932,11696321,10801818,10747096,10725224,9473484,9407065,9312002,1420303,16189514,14592989 55740 NM_018212,NM_001008493,AC092811,AL356216,AL591380,CH471098,AF519769,AK001635,AK025108,AK096246,AK126894,AK127561,AK290179,AL133059,AY345143,BC010414,BC037319,BC065238,BC095481,BQ672102,CB961874,CB991931 NP_060682,NP_001008493,CAI22019,CAH71476,EAW69747,AAQ08487,BAA91799,BAC04736,BAC86739,BAC87036,BAF82868,CAB61384,AAR04685,AAH65238,AAH95481,Q6ZSB8,Q6ZT55,Q8N8S7 Hs.497893 GDB:11510041 ENA|MENA|NDPP1 protein-coding 1315614 ENAM enamelin Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein.[supplied by OMIM] 1598908,1580863 17316551,17125728,15345747,14684688,14656895,12828988,12477932,12407086,11978766,11487571,11076863,11037750,10831092,7833920 1598908 10117 NM_031889,AC009570,AF530444,AY167999,CH471057,AF125373,AF210247,BC117308,BC117310 NP_114095,AAM97323,AAN87336,EAX05625,AAG43242,AAF73847,AAI17309,AAI17311,Q17RI5,Q8IWP4,Q8NFB4,Q9NRM1,AAI11842 Hs.667018 GDB:9955259 ADAI|AIH2 protein-coding 1352868 ENC1 ectodermal-neural cortex (with BTB-like domain) DNA damage and/or hyperproliferative signals activate wildtype p53 tumor suppressor protein (TP53; MIM 191170), inducing cell cycle arrest or apoptosis. Mutations that inactivate p53 occur in 50% of all tumors. Polyak et al. (1997) [PubMed 9305847] used serial analysis of gene expression (SAGE) to evaluate cellular mRNA levels in a colorectal cancer cell line transfected with p53. Of 7,202 transcripts identified, only 14 were expressed at levels more than 10-fold higher in p53-expressing cells than in control cells. Polyak et al. (1997) [PubMed 9305847] termed these genes 'p53-induced genes,' or PIGs, several of which were predicted to encode redox-controlling proteins. They noted that reactive oxygen species (ROS) are potent inducers of apoptosis. Flow cytometric analysis showed that p53 expression induces ROS production, which increases as apoptosis progresses under some conditions. The authors stated that the PIG10 gene, also called ENC1, encodes an actin-binding protein.[supplied by OMIM] 1580863 9566959,17875699,15761153,15489334,15459180,14702039,12477932,11691783,10974570,10828068,10640818,9683534,9305847,16189514 8507 NM_003633,AC026405,CH471084,AF005381,AF010314,AF059611,AK096578,AY049781,BC000418,BT007392,CR602279 NP_003624,EAW95740,AAC64498,AAC39532,AAC26109,AAL15438,AAH00418,AAP36056,O14682,Q53XS2,Q96L69,ABM82771,ABM85959 Hs.104925 GDB:9864991 CCL28|ENC-1|FLJ39259|KLHL35|NRPB|PIG10|TP53I10 protein-coding 1602126 ENDOD1 endonuclease domain containing 1 15489334,12477932,11921445,10048485,9110174,8619474 23052 AF131747,AK026560,BC026191,BC071171,CR609394,NM_015036,AP000787,AP001264,CH471065,AB020637 AAH26191,AAH71171,O94919,NP_055851,EAW66957,BAA74853 Hs.167115 KIAA0830|MGC88092 protein-coding 1321856 ENDOG endonuclease G The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. 1580863 17347867,17107772,17046751,16133872,15489334,15182854,12477932,12444964,11452314,9324313,7789991,15204919 2021 NM_004435,AL441992,CH471090,AK130973,BC004922,BC016351,CR603245,CR603254,CR608292,X79444 NP_004426,CAI15412,EAW87837,AAH04922,AAH16351,CAA55963,Q14249,Q5T281 Hs.591905 GDB:386191 FLJ27463 protein-coding 1312174 ENDOGL1 endonuclease G-like 1 1580863 10231028,18187503,17415550,14702039,12477932 9941 NM_005107,AP006241,CH471055,AB020523,AK023235,AK289602,AK290107,AK315814,BC015820,BC104212,BC104213,CR598554,CR611363 NP_005098,EAW64537,EAW64538,EAW64539,BAA76752,BAF82291,BAF82796,BAF98705,AAI04213,AAI04214,Q3SXM9,Q9Y2C4,Q9Y2C8 Hs.517897 GDB:9958494 ENDOGL2|ENGL|ENGL-B|ENGL-a|EXOG|MGC125944|MGC125945 protein-coding 1347375 ENDOGL2 endonuclease G-like 2 10231028 338025 AB020735 GDB:9955225 1351093 ENG endoglin (Osler-Rendu-Weber syndrome 1) Endoglin is a homodimeric transmembrane glycoprotein highly expressed by endothelial cells. It is a component of the transforming growth factor beta receptor complex as it binds TGFB1 and TGFB3 with high affinity. Mutations in the endoglin gene produce hereditary hemorrhagic telangiectasia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580959,1580960,1580961,1580962,1580963,1580964,1580965,1601038,1580863 9872992,15702480,7894484,10348742,18440621,18366008,18316564,18312453,18175241,18156205,17956952,17786384,17682823,17673527,17608955,17594108,17579118,17572488,17564791,17540773,17496924,17482348,17426082,17388964,17311868,17290185,17224686,17210583,17166870,17088457,17081563,16907850,16870672,16840721,16785228,16776339,16751767,16733295,16705692,16601078,16552334,16542389,16525724,16470589,16429404,16344560,16202216,16179574,16177881,15976502,15966703,15926713,15880681,15821778,15809709,15806144,15718503,15712271,15712270,15687131,15633211,15631865,15522964,15521985,15517393,15319534,15274325,15272276,15148318,15084601,16752392,9554745,9373149,9366572,9245986,9157574,9071813,9023056,8655583,8404038,8370410,8194490,8125298,7722302,1692830,1537377,16189514,15067342,15024723,14996436,14991534,14669355,14528280,12920067,12820370,12819391,12778073,12775886,12568406,12477932,12447690,12365720,12228247,12015308,12009077,11987155,11986954,11793473,11692035,10982033,10625079,10548503,10545596,9845534,9636649 1580959,1580960,1580961,1580962,1580963,1580965,1601038 2022 NM_000118,NM_001114753,AF035753,AL157935,AL162586,CH471090,U37439,AK222669,AK223044,AK290389,BC014271,BC020391,BT006872,DA943458,J05481,X72012 NP_000109,NP_001108225,AAC32802,CAI12604,CAI12605,CAI39764,CAI39765,EAW87702,EAW87703,EAW87704,AAC63386,BAD96764,BAF83078,AAH14271,AAP35518,AAA35800,CAA50891,P17813,Q53G87,Q53HB2,Q5T9B9,Q5T9C0,Q6ZW21,Q71V36,Q96CG0,ABM84599,ABM86753 Hs.76753 GDB:137193 CD105|END|FLJ41744|HHT1|ORW|ORW1 protein-coding 735808 ENO1 enolase 1, (alpha) This gene encodes one of three enolase isoenzymes found in mammals; it encodes alpha-enolase, a homodimeric soluble enzyme, and also encodes a shorter monomeric structural lens protein, tau-crystallin. The two proteins are made from the same message. The full length protein, the isoenzyme, is found in the cytoplasm. The shorter protein is produced from an alternative translation start, is localized to the nucleus, and has been found to bind to an element in the c-myc promoter. A pseudogene has been identified that is located on the other arm of the same chromosome. 1598909,1580863,1300048 3529090,11134351,2005901,10082554,18070418,18033204,17996313,17387692,17284257,16916647,16762917,16713569,16710414,16381901,16359544,16289162,16236267,15952740,15951569,15805119,15592455,15489336,15489334,15324934,15324660,14702039,12847697,12787059,12666133,12665801,12477932,12354300,12297304,11836316,11497239,11256614,11230166,11169399,11076863,10802057,10681589,9878089,9691177,9653645,9373149,9308760,9150948,9119380,9110174,9093905,8824716,8619474,8125298,7787969,2373081,2045099,1602151,14499622,14743216 1598909 2023 CR594212,CR594303,CR594572,CR594620,CR595389,CR595532,CR595542,CR596040,CR596253,CR596356,CR596722,CR596860,CR597003,CR597121,CR597248,CR597447,CR597864,CR598051,CR598066,CR598611,CR599182,CR599278,CR599549,CR600265,CR600408,BC021166,BC022545,BC027725,BC050642,BC113034,BT007163,BX537400,CR590515,CR590766,CR590981,CR591098,CR591671,CR591792,CR592364,CR593070,CR593266,CR593938,CR593962,CR594090,AL139415,CH471130,DQ056744,NM_001428,X16287,X16288,AF035286,AK098420,AK222517,AK223192,AL833741,BC001810,BC004325,BC004458,BC009218,BC009912,BC011130,BC015641,X84907,M55914,CR605152,CR605229,CR605325,CR605814,CR606095,CR606187,CR606447,CR606604,CR606616,CR608388,CR608511,CR608989,CR609018,CR609108,CR609504,CR609597,CR609808,CR610099,CR610631,CR610731,CR611164,CR611233,CR600587,CR600843,CR601208,CR601750,CR601993,CR602502,CR603187,CR603412,CR603775,CR604703,CR604754,CR604831,CR619284,CR619767,CR619978,CR620572,CR620667,CR621195,CR621350,CR621749,CR622287,CR622336,CR622388,CR622552,CR623000,CR623540,CR623647,CR623991,CR618800,CR619241,CR624186,CR624210,CR624798,CR625669,CR626413,CR626731,EF036495,M14328,CR611520,CR611563,CR611826,CR612019,CR612658,CR612932,CR612967,CR613408,CR613637,CR613769,CR613921,CR613962,CR614232,CR614260,CR614386,CR614745,CR614888,CR614954,CR615234,CR615779,CR616632,CR616771,CR617373,CR617876,CR617914,CR618230 AAH21166,AAH22545,AAH27725,AAH50642,AAI13035,AAP35827,CAD97642,AAH15641,NP_001419,CAC42425,EAW71604,EAW71605,AAY43128,CAA34360,AAB88178,BAD96237,BAD96912,CAH56247,AAH01810,AAH04325,AAH04458,AAH09218,AAH09912,AAH11130,AAA35698,CAA59331,P06733,Q0JSN2,Q53FT9,Q53HR3,Q96GV1,Q9BT62,Q9UCG5,Q9UCH6,CAL38482,ABM82367,ABM85545,ABO65081,AAA52387 Hs.517145 GDB:119871 ENO1L1|MBP-1|MPB1|NNE|PPH enolase 1, alpha protein-coding 1603224 ENO1B enolase alpha, lung-specific ENO1B is an isoform of the glycolytic enzyme enolase (2-phospho-D-glycerate hydrolase; EC 4.2.1.11). It is a member of the alpha family of enolases which show widespread tissue distribution and expression in the early stages of embryonic development.[supplied by OMIM] 7689884 26237 Q05524 X66610 CAA47179,Q05524 HLE1 protein-coding 1351864 ENO1P enolase 1, (alpha) pseudogene 1580863 12477932,8941374,2132962 2025 NG_001115,X15277,BC046928 AAH46928,Q86TP5 GDB:135006 pseudo 733932 ENO2 enolase 2 (gamma, neuronal) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. 1580863 2045099,18460190,18063947,17436063,16978415,16411755,16236267,16169070,16044081,15951569,15592455,15489334,15289101,14702039,14631087,12636057,12581805,12477932,12353304,11985791,11983209,11935405,11919335,11881792,9074930,8264236,8035205,7682534,3974199,3653393,3385803,3208766,2792767,2249478 2026 NM_001975,CH471116,U47924,X51956,AK124656,AK290525,BC002745,BT007383,CR536582,CR607583,M22349,M36768,X13120,X14327,Y00691 NP_001966,EAW88709,EAW88710,EAW88711,AAB51320,CAA36215,BAF83214,AAH02745,AAP36047,CAG38819,AAB59554,AAA52388,CAA31512,CAA32505,P09104,Q6FHV6,Q9UCG5,ABM84745,ABW03619 Hs.511915 GDB:119872 NSE enolase 2, gamma protein-coding 732414 ENO3 enolase 3 (beta, muscle) This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in skeletal muscle cells in the adult. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene can be associated with metabolic myopathies that may result from decreased stability of the enzyme. Two transcripts have been identified for this gene that differ only in their 5' UTR. 1580863,1300048 8513787,16344560,15489334,15188056,12477932,11506403,2587223,2336366,1840492 2027 NM_001976,NM_053013,AC109333,CH471108,X55976,X56832,AL359213,AU143784,BC017249,DA566866,X16504,X51957 NP_001967,NP_443739,EAW90375,EAW90376,EAW90377,EAW90378,EAW90379,EAW90380,CAA39446,CAA40163,CAB94588,AAH17249,CAA34513,CAA36216,P13929,Q9NPL4,Q9UCG5,ABM83548,ABM86788 Hs.224171 GDB:119873 MSE enolase 3, beta protein-coding 1603616 ENOPH1 enolase-phosphatase 1 15843022,15489334,14702039,12477932,10931946 58478 NM_021204,AC067942,AC110787,CH471057,AF087881,AF113125,AF177286,AK022656,AL110167,BC001317,BC065815,CR457141,CR593619,CR615673,CR623426 NP_067027,EAX05892,EAX05893,EAX05894,EAX05895,AAP97181,AAF14866,AAQ13671,BAB14160,AAH01317,AAH65815,CAG33422,Q7Z508,Q9UHY7 Hs.18442 DKFZp586M0524|E1|FLJ12594|MASA|MST145 protein-coding 1346972 ENOSF1 enolase superfamily member 1 This gene was originally identified as a naturally occurring antisense transcript to the human thymidylate synthase gene. Alternate splice variants have been described, one of which (named rTSalpha) represents an alternate 3'UTR that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and down-regulates TS expression. Another transcript variant (named rTSalpha) does not overlap the TS locus. The function of this gene appears to be primarily to regulate expression of the TS locus both via the antisense transcript as well as through the encoded proteins. 1580863 18427977,16162288,14702039,14508106,12477932,9381988,8889548,8764108,8493092 55556 NM_001126123,AF305057,AP001178,CH471113,AK093873,AK127219,AK127818,AK292780,AW082251,BC001285,BG679404,BM981714,NM_017512,BQ710874,BX648215,CR599740,CR607316,CR608410,CR613516,X67098,X89602 NP_059982,NP_001119595,AAG29536,AAG29537,EAX01711,EAX01712,EAX01713,EAX01714,EAX01715,BAC87148,BAF85469,AAH01285,CAA47471,CAA47472,CAA61761,Q6ZS08,Q7L5Y1 Hs.369762,Hs.658550 HSRTSBETA|RTS|TYMSAS protein-coding 1605985 ENOX1 ecto-NOX disulfide-thiol exchanger 1 Electron transport pathways are generally associated with mitochondrial membranes, but non-mitochondrial pathways are also biologically significant. Plasma membrane electron transport pathways are involved in functions as diverse as cellular defense, intracellular redox homeostasis, and control of cell growth and survival. Members of the ecto-NOX family, such as CNOX, or ENOX1, are involved in plasma membrane transport pathways. These enzymes exhibit both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity in series, with each activity cycling every 22 to 26 minutes (Scarlett et al., 2005 [PubMed 15882838]).[supplied by OMIM] 16344560,16341674,16189514,16169070,15882838,14702039,12477932,11360993 55068 NM_017993,NM_001127615,AL136959,AL138823,AL161714,AL445703,AL607148,AL627430,CH471075,AK000956,AY513282,BC024178,BC068521,BM551661,BM834061,CR594606,DA779748,DB058776,EF432052 NP_060463,NP_001121087,EAX08691,EAX08692,EAX08693,EAX08694,EAX08695,BAA91442,AAT08035,AAH24178,ABO28524,Q8TC92 Hs.128258,Hs.711520 CNOX|FLJ10094|PIG38|bA64J21.1|cCNOX protein-coding 1345108 ENOX2 ecto-NOX disulfide-thiol exchanger 2 The protein encoded by this gene is a growth-related cell surface protein. It was identifed because it reacts with the monoclonal antibody KI in cells, such as the ovarian carcinoma line OVCAR-3, also expressing the CAKI surface glycoprotein. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The two activities alternate with a period length of about 24 minutes. The encoded protein also displays prion-like properties. Two transcript variants encoding different isoforms have been found for this gene. 1580863 1888291,11888291,12356293,8150545,11488599,18351130,18023414,16189514,15772651,15706060,15489334,14702039,12477932,11941450,11825610,11437345,11412089,10354495,9932650,9046026 10495 NM_006375,NM_182314,AL022153,AL049565,AL049733,AL591908,CH471107,AF207881,AK000353,AK289812,AK289837,AL133207,BC019254,BC108713,BC139781,BU160341,S72904 NP_006366,NP_872114,EAX11796,EAX11797,AAF20934,BAF82501,BAF82526,CAB61581,AAH19254,AAI08714,AAI39782,AAB30428,Q16206,Q32ND0,Q5JXS3 Hs.171458 GDB:9957127 APK1|COVA1|tNOX cytosolic ovarian carcinoma antigen 1 protein-coding 732266 ENPEP glutamyl aminopeptidase (aminopeptidase A) 1581742,1580863 8244382,14998491,8346219,18206321,17850355,16344560,16335952,15489334,15048132,12614948,12477932,11390025,9268642,9062131,8804068,2364374,1756856 1581742 2028 NM_001977,AC017068,AC098798,CH471057,AI640493,AL568777,BC094770,BG400415,BX641012,DB070526,L12468,L14721 NP_001968,EAX06261,AAH94770,AAA16876,AAA35522,Q07075 Hs.435765 GDB:138283 APA|CD249|gp160 aminopeptidase a protein-coding 1351327 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with 'idiopathic' infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. 1625124,1601044,1601043,1601042,1601041,1580863 7830796,10513816,11159191,8001561,17849011,12746903,11289049,9553761,1315502,18464750,18426862,18389334,18222177,18184924,18176722,18071025,17986276,17848394,17719609,17704904,17606264,17563456,17493546,17491709,17367703,17287921,17228024,17192490,17143316,17129580,17065359,17065358,17043047,17026496,16968801,16941279,16936213,16865358,16609882,16527214,16607460,16278247,16272817,16231022,16207325,16186408,16025115,15834329,15802034,15793263,15677494,15489334,15374726,15126519,15072822,15045693,15001634,14671192,14574404,14514598,12881724,12740448,12715715,12547881,12483464,12477932,12441313,12147787,12147786,12126783,11916943,11771660,11739459,11473061,10615944,10524196,10480624,10453738,9344668,8040311,7737162,2211644 1625124,1601044,1601043,1601042,1601041 5167 NM_006208,AB032016,AF067177,AF067178,AF110304,AJ242020,AL117378,AL139805,CH471051,BC033008,BC059375,BX537580,D12485,M57736 NP_006199,BAA97562,AAD38420,AAD38421,AAF36094,CAC39442,CAI19514,CAI20161,EAW48041,EAW48042,AAH59375,CAD97789,BAA02054,AAA63237,P22413,Q7Z3P5,Q9NS95 Hs.527295 GDB:132615 M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1 2289234,2289252,2289470 BW142_H,BW141_H,SLEP15_H protein-coding 734409 ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 (autotaxin) The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and as a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells, has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. 1580863 7982964,8579579,8586446,1733949,18327261,18249559,18175805,18054784,17902023,17804602,17577119,17013094,16782887,16627485,16529861,16436050,16356477,16344560,16117781,15985467,15933052,15897878,15769751,15700135,15489334,15027116,12727817,12633853,12498389,12482591,12477932,12176993,12119361,11559573,10737800,8995394,8798697,7496154 5168 NM_006209,AC099818,AC107960,CH471060,D45914,L46720,AK124910,AK130313,AL544867,BC034961,NM_001040092,BQ365938,CR606785,CR619098,D45421,DA922156,DB468753,EU131011,L35594 NP_001035181,NP_006200,EAW91986,EAW91987,EAW91988,EAW91989,EAW91990,BAA08342,AAB00855,AAH34961,BAA08260,ABW38316,AAA64785,Q13822,Q9UCR1,Q9UCR2,Q9UCR3,Q9UCR4,ABM82554,ABM85745 Hs.190977 GDB:623443 ATX|ATX-X|AUTOTAXIN|FLJ26803|LysoPLD|NPP2|PD-IALPHA|PDNP2 protein-coding 1344691 ENPP3 ectonucleotide pyrophosphatase/phosphodiesterase 3 The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. 1580863 9344668,17275019,16344560,15886225,15072822,15031605,14574404,14533006,11342463,10524196 5169 NM_005021,AC005587,AF119714,AL121575,AL135904,AL355150,CH471051,AK024899,AK226107,DB230886,DB239180,DQ234347,EF560735 NP_005012,AAD05192,AAD46160,CAI23322,CAI23323,CAB99214,CAI40481,CAI40482,EAW48044,EAW48045,EAW48046,ABB29976,ABQ59045,O14638,Q308M7,Q5JTL2,Q5JTL3,Q9H515,Q9NQM9,Q9UNI4,AAI41435,AAI46580 Hs.486489 GDB:623444 B10|CD203c|NPP3|PD-IBETA|PDNP3 protein-coding 1318608 ENPP4 ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative function) 12477932,11027689,10048485 22875 NM_014936,AL035701,CH471081,CS265750,AB020686,AJ420515,AK291276,BC018054,BI548305 NP_055751,CAB56567,EAX04292,CAJ78397,BAA74902,BAF83965,AAH18054,Q9Y6X5,ABM83258,ABM86463 Hs.643497 GDB:9957233 KIAA0879|NPP4 protein-coding 1349666 ENPP5 ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative function) 1580863 15489334,12975309,12477932,11027689 59084 NM_021572,AL035701,CH471081,AK292842,AY358514,BC027615,BX647968 NP_067547,CAB56566,EAX04293,BAF85531,AAQ88878,AAH27615,Q5TFV2,Q9UJA9 Hs.35198 GDB:10797021 KIAA0879 protein-coding 1323210 ENPP6 ectonucleotide pyrophosphatase/phosphodiesterase 6 15788404,15489334,14702039,12975309,12477932 133121 NM_153343,AC079080,AC107222,CH471056,AK021943,AK057370,AY358676,BC035035 NP_699174,AAY40908,EAX04683,BAB71455,AAQ89039,AAH35035,Q4W5Q1,Q6UWR7 Hs.297814 MGC33971|NPP6 protein-coding 1342953 ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 12671034,12885774,16255717,15708357,15489334,15458386,15340161,15016655,14702039,12975309,12477932 339221 NM_178543,AC105337,CH471099,AK126250,AK128662,AY230663,AY358622,BC041453 NP_848638,EAW89566,BAC86504,AAP69661,AAQ88985,AAH41453,Q6UWV6 Hs.114084 ALK-SMase|MGC50179 protein-coding 736594 ENSA endosulfine alpha The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 9653196,17081983,15489334,15030171,14728987,14728986,14702039,12937617,12477932,11771735,11042152,10480622,8889548,17353931 2029 AK001981,AK057673,AK290064,AL711949,AW136940,AW409955,BC000436,BC004461,BC068544,BC069208,BE799496,BM771663,BM984677,BM993811,BQ005654,BQ883543,BU075511,BU858280,CB243574,CR457130,CR536578,CR590415,CR594109,CR595679,CR596966,CR597326,CR601564,CR607294,CR607991,CR612382,CR615330,CR622565,CR622963,CR623058,CR749580,T78564,X99906,NM_004436,NM_207042,NM_207046,NM_207045,NM_207044,NM_207043,NM_207047,NM_207168,AJ010966,AL356356,AY326399,AY326400,AY326401,AY326402,AY326403,CH471121,AF067170,AF157509,AF157510 BAF82753,AAH00436,AAH04461,AAH68544,AAH69208,AAF80341,CAG38815,CAH18372,CAA68180,O43768,Q5T5H1,Q5T5H2,Q68D48,Q6FHW0,Q6IAM4,Q6NUL2,Q6VUC6,Q6VUC7,Q6VUC8,Q6VUC9,Q6VUD0,Q6VUD1,NP_004427,NP_996925,NP_996929,NP_996928,NP_996927,NP_996926,NP_996930,NP_997051,CAB65125,CAI15505,CAI15506,CAI15507,CAI15508,CAI15509,CAI15510,CAI15511,CAI15512,AAQ73827,AAQ73828,AAQ73830,AAQ73831,AAQ73829,AAQ73832,EAW53528,EAW53529,EAW53530,EAW53531,EAW53532,EAW53533,AAD32454,AAF80340,CAG33411 Hs.632456 GDB:9864267 MGC4319|MGC78563|MGC8394 protein-coding 1349921 ENSAP endosulfine alpha pseudogene 170511 NG_001035,AL050324 GDB:11505984 dJ822J19.1 pseudo 1348920 ENSAP2 endosulfine alpha pseudogene 2 319114 NG_002495,AL163171 pseudo 1602180 ENTHD1 ENTH domain containing 1 15461802,14702039,12477932 150350 NM_152512,AL022319,AL022353,CH471095,AK058150,AK093154,BC033895,CR456452 NP_689725,EAW60352,EAW60353,EAW60354,BAB71688,BAC04075,AAH33895,CAG30338,Q8IYW4 Hs.474869 FLJ25421|dJ370M22.3 protein-coding 733329 ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 728666,735004,1580863,1300048 8955160,7930580,17727821,17560607,17449799,17374358,16920697,16478441,16028070,16011960,15890655,15772061,15590415,15496502,15146241,14702039,12832497,12623446,12482826,12477932,12234494,12067895,11897808,11004484,10997340,10737800,10636909,10471369,10405171,9846014,9226376,8996251,8626624,8529670 728666,735004 953 NM_001098175,NM_001776,AL356632,AL365273,CH471066,AJ133133,AJ133134,AK098240,AK098278,AL833543,BC047664,BF839210,BX537522,CR612177,CR617781,DC423382,S73813,U87967 NP_001091645,NP_001767,CAI16770,CAI16771,EAW49987,EAW49988,EAW49989,EAW49990,EAW49991,CAB41886,CAB41887,AAH47664,AAB32152,AAB47572,P49961,Q5VWQ9,Q5VWR0,Q5VWR1,Q86VV3 Hs.576612 GDB:422173 ATPDase|CD39|DKFZp686D194|DKFZp686I093|FLJ40921|FLJ40959|NTPDase-1 protein-coding 733255 ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. 1580863 17489562,16101300,15799977,15651265,15496502,15489334,14522593,12888562,12477932,11827541,11591653,10510450,9271669 954 NM_203468,NM_001246,AL807752,CH471090,AF144748,BC011003,BC035738,BQ883059,EF495152,U91510 NP_982293,NP_001237,CAI12776,CAI12777,EAW88336,EAW88337,AAD40239,AAH11003,AAH35738,ABP58644,AAB81013,Q5SPY6,Q5SPY7,Q6PJV3,Q9Y5L3,ABM83336,ABM86549 Hs.123036 GDB:9032976 CD39L1|NTPDase-2 protein-coding 1346927 ENTPD3 ectonucleoside triphosphate diphosphohydrolase 3 ENTPD3 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD3 contains 4 apyrase-conserved regions which is characteristic of NTPases. 1580863 17727821,15966724,12477932,11300774,10231536,9676430,9675246,9271669 956 NM_001248,AC104186,CH471055,AF034840,AF039917,AK313322,BC029869,BX952692 NP_001239,EAW64600,EAW64601,AAC09236,AAC39884,BAG36127,AAH29869,O75355,Q8N6K2 Hs.441145 GDB:9861856 CD39L3|FLJ93839|HB6|NTPDase-3 protein-coding 1319889 ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 1580863 9556635,15592455,15200686,12477932,10858452,10393803,9205841 9583 NM_004901,AC104561,AJ246165,CH471080,AB002390,AF016032,AJ131358,BC034477 NP_004892,CAB45655,EAW63621,EAW63622,EAW63623,BAA21575,AAC17217,CAB40415,AAH34477,Q8NE73,Q9Y227,ABM81750,ABM84904 Hs.444389 GDB:10796859 KIAA0392|LALP70|LAP70|LYSAL1|NTPDase-4|UDPase protein-coding 1343601 ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 ENTPD5 is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. 1580863 18006831,16465363,16335952,15698960,12489110,12477932,11041857,10708485,10400613,9676430,9271669 957 NM_001249,AC005480,AC005484,CH471061,AF039918,AF136572,AY430094,BC020966,BC130485,BC130487 NP_001240,EAW81149,EAW81150,EAW81151,EAW81152,EAW81153,EAW81154,EAW81155,EAW81156,AAC39885,AAK82950,AAR06666,AAI30486,AAI30488,O75356,Q96RX0 Hs.131555 GDB:9861857 CD39L4|MGC163357|MGC163359|NTPDase-5|PCPH protein-coding 1345865 ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 (putative function) ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which is characteristic of NTPases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 16713569,16381901,16303743,15489336,15489334,14702039,14529283,12477932,11780052,11230166,11076863,11041856,9676430,9271669,10948193 955 NM_001247,NM_001114089,AL035252,CH471133,AF039916,AF058296,AK074691,AK094030,AK124625,AK128412,AK308626,AL834158,AY327581,BC025980,CR591458,CR592242,CR602530,CR604059,CR936750,CR936765 NP_001238,NP_001107561,CAB41571,CAI22588,CAI22589,CAI22590,CAI22591,CAI22592,CAI22593,CAI22594,CAI22595,CAI22596,CAI22597,CAI22598,EAX10095,EAX10096,EAX10097,EAX10098,EAX10099,AAC39883,AAC14279,CAD38864,AAP92131,AAH25980,O60670,O75354,Q0JSS2,Q5QPJ2,Q5QPJ4,Q5QPJ5,Q5QPJ6,Q8N3H3,CAL38442,ABM84322,ABW03557 Hs.500375 GDB:9861855 CD39L2|DKFZp781G2277|DKFZp781K21102|FLJ36711|IL-6SAG|IL6ST2|NTPDase-6|dJ738P15.3 protein-coding 1321659 ENTPD7 ectonucleoside triphosphate diphosphohydrolase 7 1580863 15489334,15164054,14702039,12477932,11278936 57089 NM_020354,AL133353,CH471066,CS300521,AF269255,AK055540,AK056392,AK123516,AK314542,AL713774,AW629210,BC018023,BC119008,BC122857 NP_065087,CAI14498,EAW49860,EAW49861,EAW49862,CAK32185,AAF90135,BAG37130,AAI19009,AAI22858,Q9NQZ7 Hs.591916,Hs.709560 DKFZp667O124|FLJ30978|FLJ31830|FLJ41522|FLJ95364|LALP1|MGC141913|RP11-483F11.1 protein-coding 1602162 ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 17727821,17095758,16752921,12975309,12477932 377841 NM_198585,NM_001033113,BX322799,CH471090,AY359088,AY430414,AY903954,BC050293,BC141810,AY903953 NP_940987,NP_001028285,EAW88389,AAQ89446,AAR04374,AAW83516,AAI41811,Q5MY95,AAW83515,AAI40369,AAI46510 Hs.512562 GLSR2492|NTPDase-8|UNQ2492 protein-coding 1353973 ENUR1 enuresis, nocturnal 1 7670476 2031 GDB:594516 1351202 ENUR2 enuresis, nocturnal 2 2032 GDB:666422 1601985 ENY2 enhancer of yellow 2 homolog (Drosophila) 18206972,14702039,12477932,11438676 56943 NM_020189,AC021237,CH471060,CS300591,AF173296,AF201940,AK000487,AK095651,AK290752,BC007870,BC051878,CR457183,CR624813 NP_064574,EAW91927,EAW91928,EAW91929,EAW91930,CAK32255,AAF89829,AAF86876,BAF83441,AAH07870,CAG33464,Q9NPA8 Hs.492555 DC6|FLJ20480|e(y)2 protein-coding 1353316 EOMES eomesodermin homolog (Xenopus laevis) This gene encodes a member of a conserved protein family that shares a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. A similiar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. 1580863 9888994,17353897,16273099,15489334,10407135,9434949 8320 NM_005442,AC098614,AJ010280,CH471055,AB031038,BC025363,BC037568,BC131712 NP_005433,CAB37939,EAW64387,EAW64388,BAA83417,AAH25363,O95936 Hs.591663 GDB:9864850 TBR2 protein-coding 1348463 EP300 E1A binding protein p300 This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. 1580966,1580863,2289907,2289908 11547919,11481323,11463834,11463815,11448987,11430825,11349124,11296295,11279157,11278891,11268218,11264182,11134049,11116148,11113179,11080476,11030627,11020388,10944526,10942770,10918613,10891508,10824998,10823961,10779504,10753971,10722728,10700188,12724314,12696060,12690203,12646247,12604599,12588875,12527917,12483531,12482985,12482752,12477932,12473110,12453427,12446687,12419806,12408818,12391150,12379484,12379213,12371907,12368347,12242694,12237408,12208951,12189208,12162806,12136661,12107410,12107188,12101186,12082103,12050117,12015309,11997499,11994297,11983172,11978637,11967287,11959990,11956210,11943779,11940656,11940655,11940591,11940575,11931769,11931765,11912212,11909954,11864910,11864601,11823643,11788592,11782371,11773079,11744733,11739381,11733503,11726517,11707411,11701890,11691934,11689449,11689053,11564893,11564735,11559821,15890677,15806138,15731352,15718293,15706485,15705864,15701643,15649887,15641773,15632193,15615775,15509808,15345715,15337767,15297880,15224190,15186775,15146197,15138260,15123817,15117818,15075319,15066326,14716005,14645221,14630807,14612423,14612398,14605447,14550555,12972427,12970734,12960163,12941701,12929931,12917345,12914934,12904943,12887902,12789259,12788643,12750254,12748286,12732631,15917652,17065349,16922677,16916647,16809786,16804902,16708385,16704985,16696975,16687403,16672693,16636310,16630816,16622451,16582966,16581781,16461764,16344560,16219772,16109717,15965232,15964811,15951563,15943569,12435739,12040021,10205054,12586840,15261140,10893273,9194565,10518217,18243116,18083712,18070920,17761950,17707401,17623675,17469184,17438265,17410209,17403783,17382325,17299436,17272271,17250547,17226766,17220215,17126870,10673036,10656693,10655477,10607594,10567538,10545951,10545121,10506141,10454579,10454341,10440698,10434034,10327051,10075656,10025406,9887100,9862959,9811832,9809062,9806899,9744860,9733868,9733796,9659901,9625762,9590696,9560267,9407140,9383702,9343424,9288740,9267036,9096323,9001254,8945521,8918891,8917528,8889549,8889548,8684459,7870179,7566098,7523245,16179804,16601680,15611041,15171254,16001085,15725353,15142377,10490830,9710619,9443979,10497212,10464260,10887155,11073990,11073989,11443112,11486036,7758944,11782467,10973497,9858599,11239394,10933397,10825153,10199400,11304541,10846067,10851229,12479814,12514134,12730195,14691252,8824223,14585496,12101239,15175427,15933712,15834423,15782138,15893728,15350211,9920895,15380363,15653507,15333839,15616592,9679056,15558054,9528808,15688032,15315758,14767476,15691758,8986769,15664194,11029584,15494311,14761960,10490106,11196199,15175157,10497242,15225550,8621548 1580966,2289907,2289908 2033 NM_001429,AL035658,AL080243,AL096765,CH471095,DQ229147,AA235167,AI302618,BC053889,BQ428177,BQ921059,BQ930911,CA393789,CB132795,CB155618,CF130065,CN278277,CN278282,D53020,D81427,DB047746,H81349,N57495,T28413,U01877 NP_001420,CAH70384,EAW60408,ABB16440,AAH53889,AAA18639,Q09472,Q38HM2,Q5W1B6,Q7Z6C1,BAG10860 Hs.517517,Hs.655211 GDB:9862958 KAT3B|p300 protein-coding 1312347 EP400 E1A binding protein p400 1580863 18413597,16601686,15741165,15655109,15489334,15302935,15196461,14966270,14702039,12963728,12477932,11509179,11347906,10819331,9225980,12421765 57634 NM_015409,AC131009,AC137590,AC137632,CH471054,AB040931,AB058721,AK025040,AK074395,AK096311,AK097299,AK124012,AK127058,AL832718,AW376113,AY044869,BC016068,BC037208,BC064554,BC150291,BX369075,U80743 NP_056224,EAW98534,EAW98535,EAW98536,BAA96022,BAB47447,BAC04759,AAK97789,AAH37208,AAH64554,AAI50292,AAB91441,Q96L91 Hs.699245 GDB:11502513 CAGH32|DKFZP434I225|FLJ42018|FLJ45115|P400|TNRC12 protein-coding 1604699 EP400NL EP400 N-terminal like 14702039,12477932 347918 NR_003290,AC137590,AC138466,AK090610,AK091234,AK097720,AK126212,AK128208,AK289710,AL117637,BC015414,BC066974 BAC03617,BAC05150,BAC86487,BAF82399,CAB56026,AAH66974,Q6ZTU2 Hs.122115 DKFZP434I225|FLJ33915|FLJ44224|FLJ46340|MGC87589 pseudo 68594 EPAS1 endothelial PAS domain protein 1 632961,734934,1580977,1580974,1580863 9079689,15261140,17324924,17418410,9000051,9576906,11782478,18378852,18319549,18077449,18055454,18024825,17907154,17570486,17562539,17555795,17526729,17495954,17477366,17452775,17437013,17417656,17285230,17220275,17140440,17097563,16920734,16885164,16826581,16760477,16554418,16284786,16278385,16263938,16208515,16098466,15964822,15653678,15652356,15598469,15489334,15247232,15240563,15231748,15217953,15192019,15156561,15039136,14985465,14966910,14744852,14702039,14691554,14668441,14645546,14512791,12823854,12697324,12588875,12477932,12464608,12209691,12123724,11823643,11313887,11018023,10823831,10202154,9110174,8619474,14556007,16189514,9113979,9704006 632961,734934,1580977,1580974 2034 NM_001430,AC016696,AC016912,CH471053,AF052094,AK123845,BC015869,BC051338,CD109908,CR623669,CR624321,U51626,U81984 NP_001421,AAX93237,AAY14704,EAX00255,AAH15869,AAH51338,AAC51212,AAB41495,Q53SM6,Q96KZ1,Q99814 Hs.468410 GDB:9838012 ECYT4|HIF2A|HLF|MOP2|PASD2 protein-coding 1605128 EPB41 erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) Elliptocytosis is a hematologic disorder characterized by elliptically shaped erythrocytes and a variable degree of hemolytic anemia. Inherited as an autosomal dominant, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton. The form discussed here is the one found in the 1950s to be linked to Rh blood group and more recently shown to be caused by a defect in protein 4.1. 'Rh-unlinked' forms of elliptocytosis are caused by mutation in the alpha-spectrin gene (MIM 182860), the beta-spectrin gene (MIM 182870), or the band 3 gene (MIM 109270).[supplied by OMIM] 16669616,6894932,16254212,9598318,16060676,18212055,18079699,17715393,17298666,16881872,17087826,16710414,16537540,16368544,16368534,16157202,15834631,15731777,15714879,15611095,15564380,15527767,15525677,15489334,15238148,15184364,15040429,12960380,12901833,12807908,12601556,12522012,12477932,12427749,12239178,12181426,12130521,12049649,12044158,11737230,11432737,11423550,11071908,11017195,11003675,10887144,10874042,10692436,10359596,10189366,9694734,9660868,9645944,9531554,9207085,8434260,8423235,7937897,7673158,3531202,3467321,3375238,3223413,3194408,2968981,2808371,2384598,2171679,2022644,1647028,1639060,1430200,17353931,16189514 2035 BE257308,BM465039,BM740451,BM997767,NM_203342,BU184161,CR601097,CR622465,J03796,M14993,M61733,R94392,NM_203343,NM_004437,AF156226,AL009181,AL138785,AL357500,CH471059,AB209649,AF156225,AI819579,AL833483,BC009063,BC039079,BC096104,BC096105,BC113841,BC114450 AAI14451,AAA35793,AAA35794,AAA35795,AAA35797,P11171,Q1WWM3,Q29RX4,Q4VB86,Q4VB87,Q59F12,Q5TB33,Q5TB36,ABW03751,NP_976217,NP_976218,NP_004428,AAD42223,EAX07662,EAX07663,EAX07664,EAX07665,EAX07666,EAX07667,EAX07668,BAD92886,AAD42222,AAH39079,AAH96104,AAH96105,AAI13842 Hs.175437,Hs.702377,Hs.708933 GDB:119865 4.1R|EL1|HE protein-coding 733700 EPB41L1 erythrocyte membrane protein band 4.1-like 1 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The protein encoded by this gene is a neuronally-enriched protein that is structurally similar to EPB41. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them has been determined. 17081983,16964243,16368544,15489334,15345747,14702039,14697242,12676536,12574408,12477932,12444087,12181426,11780052,10594058,10414974,9828140,9570967,9205841,11136977,11050113 2036 NM_177996,NM_012156,AL035420,AL121895,CH471077,AB002336,AK096848,AK126875,AY049789,BC013885,BC040259,BC113858,BC113899,BC131796,BI457725,BX537978,CR936825 NP_818932,NP_036288,CAI95014,CAI95015,CAI95016,CAI95017,CAI95018,CAI95019,CAI95020,CAI95021,CAI95022,CAI95023,CAI95024,CAI95025,CAI95027,CAI95029,EAW76144,EAW76145,EAW76146,BAA20796,BAC86733,AAL15446,AAH13885,AAH40259,AAI13859,AAI13900,AAI31797,CAD97941,Q4VXN0,Q4VXN1,Q4VXN2,Q4VXN5,Q4VXN6,Q4VXN7,Q4VXN8,Q7Z3C9,Q9H4G0,ABM82278,ABM85457 Hs.437422 GDB:9675836 4.1N|DKFZp686H17242|KIAA0338|MGC11072 erythrocyte protein band 4.1-like 1 protein-coding 1348118 EPB41L2 erythrocyte membrane protein band 4.1-like 2 1580863 9598318,18023480,16964243,15302935,15138281,12974671,12477932,12239178,12181426,12044158,11274145,11050113,9828140,9531554,9110174,8619474,16189514,17353931 2037 AL109938,AL358943,AL590014,CH471051,AB209522,AF027299,AF054999,AJ251209,AK127088,AL050384,AY047584,NM_001431,AY512660,BC034718,CR614135,CR749262,CR936793 NP_001422,CAI20310,CAI40759,CAI40760,CAI40761,EAW48061,EAW48062,EAW48063,EAW48064,EAW48065,BAD92759,AAC16923,AAC09353,CAC17607,BAC86822,CAB43682,AAK95850,AAR97579,AAH34718,CAH18118,O43491,O60642,Q59FD8,Q5JRN3,Q5T4F0,Q68DV2,Q6R5J7,Q6ZSX4,Q8N4C4,Q9H1C6,Q9UG62 Hs.486470 GDB:9848614 4.1-G|DKFZp781D1972|DKFZp781H1755 protein-coding 732325 EPB41L3 erythrocyte membrane protein band 4.1-like 3 1300356,1580863 12234973,9892180,17640904,17260099,16964243,16420693,16368544,16213361,16205641,16189514,16152585,16142420,15837747,15731777,15688033,15517334,15489334,15345747,15334060,15324660,15138999,14702039,12542678,12478663,12477932,12421765,12115567,11996670,10888600,10231032,9828140,8401585,7566098,17353931,15116094 1300356 23136 NM_012307,AP005059,AP005671,CH471113,AB023204,AF069072,AF515797,AK094952,AK128531,AK292583,AL832598,BC006141,BC008377 NP_036439,EAX01644,EAX01645,BAA76831,AAC79806,AAM48247,BAF85272,AAH06141,AAH08377,Q8NFG9,Q96HL7,Q9Y2J2 Hs.213394 GDB:9956765 4.1B|DAL-1|DAL1|FLJ37633|KIAA0987 erythrocyte protein band 4.1-like 3 protein-coding 1314419 EPB41L4A erythrocyte membrane protein band 4.1 like 4A 1580863 17081983,14702039,12477932,10874211,10783258,8358434,7983158 64097 NM_022140,AC010261,AC010265,AC104126,CH471086,AA350575,AA406206,AB030240,AK021578,AK096057,AK123285,BC015441,BC031042,BC114632,BC114942,CB048933 NP_071423,EAW49010,EAW49011,EAW49012,EAW49013,BAB17229,BAC04690,AAH31042,AAI14943,Q8N8X1,Q8NEH8,Q9HCS5,AAI60044 Hs.584954 EPB41L4|FLJ38738|NBL4 protein-coding 1320612 EPB41L4B erythrocyte membrane protein band 4.1 like 4B 10783258,14576147,14521927,10603000 54566 NM_018424,AL358815,AL359963,CH471105,AA588823,AB032179,AB209187,AF153416,AF153418,AJ420414,NM_019114,AK000388,AK025249,AL353947,CR618146 NP_061987,NP_060894,CAI15129,CAI15130,EAW59041,EAW59042,EAW59043,EAW59044,BAA96079,BAD92424,AAG43366,AAG43368,BAA91133,BAB15091,CAB89252,Q59GC2,Q5VX11,Q5VX12,Q9H329,Q9H709,Q9NSG9,Q9NX84,AAI56132 Hs.591901 CG1|DKFZp761N1814|EHM2|FLJ21596 protein-coding 1322786 EPB41L5 erythrocyte membrane protein band 4.1 like 5 17920587,15084287,14702039,12477932,10997877 57669 NM_020909,AC012363,AC016691,AC079879,CH471103,AB046768,AK023019,AK290895,BC032822,BC054508 NP_065960,AAY14798,AAX88859,AAY14980,EAW95233,EAW95234,EAW95235,EAW95236,BAB13374,BAB14360,BAF83584,AAH32822,AAH54508,Q4ZG32,Q53RT1,Q53T34,Q9HCM4 Hs.654802 BE37|FLJ12957|KIAA1548 protein-coding 1313258 EPB42 erythrocyte membrane protein band 4.2 Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863,1598910 8608138,12970870,1350227,16718373,14551146,12576321,12477932,12434312,12393467,12176912,12049649,11936273,11390390,10610180,10333496,8889548,8499466,7925374,7819064,7803799,7772513,7626035,3276554,2968981,2300550,2052563,1826225,1729896,1689063,1558976,1544941,1284644,12646258 1598910 2038 CR607973,DW451374,M29399,M30646,M30647,M60298,NM_000119,NM_001114134,AC068724,AF206511,AF206512,CH471125,L06519,BC096093,BC096094,BC096095,BC099627,BU741892,CR593742,CR600242 AAA35798,AAA36402,AAA36401,AAA74589,P16452,Q4KKX0,Q4VB96,Q4VB97,NP_000110,NP_001107606,AAF64425,EAW92591,EAW92592,AAA52385,AAH96093,AAH96094,AAH96095,AAH99627 Hs.368642 GDB:127385 MGC116735|MGC116737|PA protein-coding 1322873 EPB49 erythrocyte membrane protein band 4.9 (dematin) 1580863 7615546,8341682,16697408,16344560,15489334,14702039,14660664,12477932,12011427,8608138,14623284 2039 NM_001978,NM_001114135,NM_001114136,NM_001114137,NM_001114138,NM_001114139,AC091171,CH471080,AK055842,AK091581,AK289650,AK308807,BC006318,BC017445,BC052805,BI222285,BI222385,BT007396,DA170493,DA372459,DA521027,L19713,U28389,AB209718 NP_001969,NP_001107607,NP_001107608,NP_001107609,NP_001107610,NP_001107611,EAW63724,EAW63725,EAW63726,BAF82339,AAH06318,AAH17445,AAH52805,AAP36060,AAA58438,AAC50223,Q08495,Q59EU3,BAD92955,ABM83705,ABM87025 Hs.106124,Hs.186350 GDB:642103 DMT|FLJ78462|FLJ98848 protein-coding 1314407 EPC1 enhancer of polycomb homolog 1 (Drosophila) 1580863 10976108,17192267,16964243,15647280,15536069,15489334,15196461,15164054,14966270,14702039,12963728,12477932,11318600,10527689,9237112 80314 NM_025209,AF069038,AL158834,AL391839,CH471072,AF040182,AF062180,AF088632,AF277374,AF286905,AK024329,AK092304,BC036529,CR749375 NP_079485,AAC26728,CAH70821,CAH70822,CAH70823,CAH70453,CAH70454,CAH70455,EAW85972,EAW85973,EAW85974,EAW85975,AAC02458,AAC18216,AAC96247,AAG41402,AAK60501,BAB14888,BAC03857,AAH36529,CAH18228,Q68DJ2,Q9H2F5 Hs.167805,Hs.633485,Hs.654496 DKFZp781P2312|Epl1 protein-coding 1316366 EPC2 enhancer of polycomb homolog 2 (Drosophila) 18330920,15647280,15489334,14966270,14702039,12477932 26122 NM_015630,AC016763,AC017080,CH471058,AF286904,AK001433,AK002010,AK125789,AL117558,BC093818,BC093820 NP_056445,AAY24275,AAY14754,EAX11547,EAX11548,EAX11549,AAK60500,BAA91688,BAA92032,CAB55993,AAH93818,AAH93820,Q52LR7,Q53SL1,Q53SN6 Hs.23270 DKFZP566F2124|EPC-LIKE protein-coding 1343278 EPDR1 ependymin related protein 1 (zebrafish) The protein encoded by this gene is a type II transmembrane protein and is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium dependent cell adhesion. 18374504,16713569,12690205,12477932,11943480,11749721,11248421 54749 NM_017549,AC018634,AF361252,CH236951,CH471073,AJ250475,AK290885,AY027862,BC000686,BC018299,CR596656,CR624676,DQ914439 NP_060019,AAK26441,EAL23982,EAW94086,EAW94087,CAB60269,BAF83574,AAK15788,AAH00686,AAH18299,ABI84106,Q96J80,Q9UM22 Hs.563491 EPDR|MERP-1|MERP1|UCC1 protein-coding 1605556 EPGN epithelial mitogen homolog (mouse) 15611079,15340161,12975309,12477932,11278323 255324 NM_001013442,AC097470,AK289455,AY358920,BC127938,BC127939,DQ235264,DQ235265,DQ235266,DQ235267,DQ235268,DQ235269 NP_001013460,BAF82144,AAQ89279,AAI27939,AAI27940,ABB60043,ABB60044,ABB60045,ABB60046,ABB60047,ABB60048,Q6UW88,AAI40432,AAI46548 Hs.401237 ALGV3072|EPG|FLJ75542|PRO9904|epigen protein-coding 1312265 EPHA1 EPH receptor A1 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. 1580863 2825356,17980912,16964243,16862074,16737551,16344560,15951569,15146197,12853948,11519828,11256076,11128993,10730216,10502115,10369740,10207129,9576626,9530499,9267020,8755474 2041 NM_005232,AC092214,AF101171,CH236959,CH471198,AA723562,AA788809,AI057542,AK290351,AU131228,BC130291,CD653381,CN289899,CN289901,M18391,Z27409 NP_005223,AAS07458,AAD43440,EAL23789,EAW51845,EAW51846,EAW51847,BAF83040,AAI30292,AAA36747,CAA81796,P21709 Hs.89839 GDB:119875 EPH|EPHT|EPHT1|MGC163163 epha1 protein-coding 1347579 EPHA10 EPH receptor A10 Ephrin receptors, the largest subfamily of receptor tyrosine kinases (RTKs), and their ephrin ligands are important mediators of cell-cell communication regulating cell attachment, shape, and mobility in neuronal and epithelial cells (Aasheim et al., 2005 [PubMed 15777695]). See MIM 179610 for additional background on Eph receptors and ephrins.[supplied by OMIM] 737633 15777695,15489334,14702039,12477932 737633 284656 NM_001099439,NM_173641,AC104336,AJ872185,CH471059,AJ781169,AK090974,AK131215,AY726560,BC039363,BC041360,BC067734,BC112933 NP_001092909,NP_775912,CAI43321,EAX07321,EAX07322,EAX07323,CAG77605,BAC03561,BAD18404,AAH41360,AAH67734,AAI12934,Q4G0R4,Q5JZY3,Q6ZNH1,Q8N289 Hs.129435 FLJ16103|FLJ33655|MGC43817 protein-coding 1316258 EPHA2 EPH receptor A2 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. 1580975,1580976,1580863 7918100,2174105,18198190,18172271,18097589,18079969,17980912,17519535,17374733,17332925,17192257,17154180,17050670,16969087,16737551,16481735,16428472,16236711,16103880,16098464,16051609,15951569,15671550,15649254,15561974,15498927,15297418,15249202,15193868,14965363,14767510,14679012,14633601,12907451,12810680,12651595,12650608,12576426,12496371,12496364,12494475,12477932,12467573,12400011,12370823,12351647,12167657,12147253,11968011,11256076,11146556,11128993,10730216,10655584,10607706,10502115,10207129,9576626,9530499,9267020,9245480,9119409,8755474,8183555,7982920,7973638,7543898,7536959,15688035 1580975,1580976 1969 NM_004431,AL451042,AY052403,CH471167,CS026995,BC008655,BC037166,CB991812,M59371 NP_004422,CAH71943,AAL11019,EAW51769,EAW51770,CAI61887,AAH08655,AAH37166,AAA53375,P29317,Q8IZL0,Q8N3Z2,Q96HF4,ABM86157,ABW03777 Hs.171596 GDB:126726 ECK epha2 protein-coding 68566 EPHA3 EPH receptor A3 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. 1304509,68243 1737782,17192257,16941478,16239146,14759258,14702039,14697337,12477932,11877430,11870224,11256076,11128993,10987298,10730216,10207129,9932438,9751130,9685371,9576626,9530499,9267020,9245480,9195962,8559144,8188238,8070404,1311845,15355990 1304509,68243 2042 NM_005233,NM_182644,A28003,AC107028,AC109129,AC138973,CH471110,AF213459,AF213460,AK024352,AK291411,BC026247,BC063282,M83941 NP_005224,NP_872585,CAA01906,EAW68857,AAG43576,AAG43577,BAF84100,AAH63282,AAA58633,P29320,Q6P4R6 Hs.123642 GDB:141573 ETK|ETK1|HEK|HEK4|TYRO4 protein-coding 1345605 EPHA4 EPH receptor A4 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. 1580863 7898931,17847007,16965393,16574431,16540516,16365308,15994237,15489334,15313894,12775584,12761826,12496762,12477932,12383247,12084815,11336673,11256076,11128993,11085874,10730216,10366629,10207129,9576626,9530499,9484836,9373149,9345045,9267020,8889548,8755474,8622893,8125298,16189514,15688035 2043 NM_004438,AC010899,AC079834,CH471063,CS163790,AA987900,AF075040,AK225181,AK290306,AL603465,BC016981,BC026327,BC105000,BC105002,BM676153,BM679073,BM680394,BM712812,BM724253,BQ009361,L36645 Q96AL3,NP_004429,AAY24283,AAY24284,AAX81994,EAW70785,EAW70786,CAJ32200,BAF82995,AAH16981,AAH26327,AAI05001,AAI05003,AAA74246,P54764,Q53TA0,Q53TA1,Q584H6,Q58F15 Hs.371218 GDB:134761 HEK8|SEK|TYRO1 protein-coding 1605127 EPHA5 EPH receptor A5 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. 9576626,9530499,9321687,9321686,9267020,9191074,8755474,7528718,15485908,7973638,10207129,7898931,16737551,16381901,15489336,11256076,11230166,11128993,11076863,10730216,10607706,10531456,10516308 2044 NM_182472,NM_004439,AC018683,AC104137,AC105923,AC115223,CH471057,AB209375,BX537946,L36644 NP_872272,NP_004430,EAX05536,EAX05537,EAX05538,EAX05539,BAD92612,CAD97914,AAA74245,P54756,Q0JSZ9,Q0JU84,Q59FT4,Q7Z3F2,CAL37927,CAL38365 Hs.654492 GDB:7219569 CEK7|EHK1|HEK7|TYRO4 protein-coding 1605546 EPHA6 EPH receptor A6 16641997,16344560,15271258,15194108,14986683,14726470,14702039,12975309,12477932,12471243,12084815,11128993,10730216,8755474,10607706 285220 NM_001080448,NM_173655,AC107482,AC108714,AC109782,AC110717,AC117439,AC117470,AC119745,AC130510,AC134730,AC135369,CH471052,AK092565,AL133666,AY358738,BC031881,BC067287,BX099374,DA385338,DN991634,DR731365,DV080244 NP_001073917,NP_775926,EAW79885,CAB63775,AAQ89098,Q6UWM0,Q9UF33,AAI56734 Hs.653244,Hs.653853 DKFZp434C1418|EPA6|FLJ35246|PRO57066 protein-coding 732959 EPHA7 EPH receptor A7 This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. 1580863,1304509,70732 11152476,16189514,18366728,17726105,17669470,17236141,16007213,15489334,14718574,14574404,12477932,11256076,11128993,11029633,10730216,10366629,10207129,9892426,9707552,9576626,9530499,9267020,9010230,8889548,8755474,7898931 1304509,70732 2045 BC126125,BC126151,BM677016,L36642,NM_004440,AL121966,AL354857,AL591036,CH471051,AB209269,AL699163,BC027940 AAI26126,AAI26152,AAA74243,Q15375,AAH27940,NP_004431,CAC19520,CAI19722,CAH72780,CAH73650,EAW48518,EAW48519,EAW48520,EAW48521,BAD92506 Hs.73962 GDB:9015265 EHK3|HEK11 protein-coding 1350663 EPHA8 EPH receptor A8 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. 1299522,1580863 1648701,16710414,15782114,15271258,15194108,14986683,12681484,12477932,11416136,11256076,11128993,10819331,10730216,10515610,10498895,10207129,9576626,9568399,9530499,9361271,9267020,9214628,9053851,16189514 1299522 2046 NM_020526,NM_001006943,AL035703,CH471134,X59291,AB040892,BC038796,BC072417,CR614037 NP_065387,NP_001006944,CAB81612,CAI22039,EAW95013,CAA41980,BAA95983,AAH38796,AAH72417,P29322,Q6IN80,Q8IUX6,AAI41437 Hs.283613 GDB:125195 EEK|HEK3|KIAA1459 protein-coding 1353347 EPHB1 EPH receptor B1 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 1580863 8798570,8666391,18424888,18057206,18034775,15951569,15722342,15340161,15107421,14702039,12925710,12477932,12223469,12118063,12084815,11713248,11256076,11140838,11128993,10730216,10669731,10207129,10066262,9736245,9576626,9530499,9499402,9430661,9267020,9245480,8889548,8755474,8559144,8070404,7973638,7689724 2047 NM_004441,AC016931,AC016951,AC063918,AC073244,AC092969,CH471052,AF037333,AF037334,AK095305,AK291208,AW207121,BC111744,BM665724,L40636 NP_004432,EAW79127,EAW79128,EAW79129,AAB94627,AAB94628,BAF83897,AAI11745,AAB08520,P54762,Q0VG87 Hs.116092 GDB:511631 ELK|EPHT2|FLJ37986|Hek6|NET protein-coding 1605126 EPHB2 EPH receptor B2 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 15225643,8755474,8589679,17655843,17295683,17234965,17192257,16840724,16819508,16740153,16710414,16582626,16298995,16272170,16166419,16155194,15973414,15951569,15848800,15821731,15722342,15718372,15300251,15126357,15107857,12972619,12546821,12477932,12389031,12297313,12136247,12063024,12058067,12039842,11956217,11799243,11780069,11754835,11585923,11580899,11494128,11256076,11128993,11042694,10839360,10730216,10648599,10644995,10572014,10570155,10542222,10537323,10523848,10508479,10480933,10330152,10207129,10053012,9933164,9883737,9707552,9696046,9632142,9576626,9530499,9499402,9267020,9233798,8878483,8798570,8033077,7898931,7816602,7688222,7601466,1648701 2048 NM_004442,NM_017449,AL035704,AL158086,AL512444,AL611946,CH471134,X59292,AB210018,AF025304,AL530874,BC007903,BC018763,BC041017,BC067861,BQ641281,D14717,D31661,D37827,L36643,L41939 NP_004433,NP_059145,CAI22897,CAI22898,CAI22899,EAW95022,EAW95023,EAW95024,EAW95025,EAW95026,CAA41981,BAE06100,AAB94602,AAH67861,BAA03537,BAA06506,BAA07073,AAA74244,AAA99310,P29323,Q4LE53,Q5TFU3,Q6NVW1,AAI46297 Hs.523329 GDB:568681 CAPB|DRT|EPHT3|ERK|Hek5|MGC87492|PCBC|Tyro5 2292800 PRSTS10_H protein-coding 1313727 EPHB3 EPH receptor B3 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. 1580863 8397371,15951569,15536074,15489334,12477932,11956217,11256076,11128993,10730216,10207129,9990854,9751130,9707552,9674711,9576626,9530499,9484836,9267020,8798744 2049 NM_004443,AC112643,CH471052,BC052968,CB993133,X75208 NP_004434,EAW78236,EAW78237,AAH52968,CAA53021,P54753 Hs.2913 GDB:230036 ETK2|HEK2|TYRO6 protein-coding 1353692 EPHB4 EPH receptor B4 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. 1580863 15930280,15722342,15489334,15358160,15193868,15126321,14764452,12734395,12690205,12477932,12235151,12051776,11929761,11920461,11466354,11256076,11239002,11136979,11128993,10730216,10518221,10207129,10037197,9718367,9576626,9530499,9267020,8152808,8831703,16322467,12493773,8188704,18231102,17611172,17510705,17353927,17234965,17196593,16982731,16867992,16840724,16615113,16424904,16343615,16205642,16171530,16107476,15951569 2050 NM_004444,AC011895,AF312032,AY056047,CH236956,CH471091,AB209644,AY056048,BC004264,BC052804,CB962032,CR602699,CR620724,CR621822,U07695 NP_004435,AAK21010,AAL14194,EAL23820,EAW76468,EAW76469,EAW76470,BAD92881,AAL14195,AAH04264,AAH52804,AAA20598,P54760,Q541P7,Q59F17,Q7Z635,Q96L35 Hs.437008 GDB:362753 HTK|MYK1|TYRO11 protein-coding 1314623 EPHB6 EPH receptor B6 Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The ephrin receptor encoded by this gene lacks the kinase activity of most receptor tyrosine kinases and binds to ephrin-B ligands. 1580863 10984508,9207182,16364251,16169070,15955811,15340161,14612926,12853948,12690205,12517763,12477932,12393850,11713248,11466354,11256076,11128993,10831073,10730216,10648835,10207129,9707552,9576626,9530499,9267020,8889548 2051 NM_004445,AC104597,AF107256,AY280502,CH236959,CH471198,AL832533,BC015495,BC047892,BC051028,BC056159,BC110606,BC110607,BM665491,BX414750,D83492,EU054308 NP_004436,AAD03058,AAP20939,EAL23775,EAW51900,EAW51901,EAW51902,EAW51903,AAI10607,AAI10608,BAA21560,ABV55388,O15197,Q2TB23,Q2TB24 Hs.380089 GDB:9032954 HEP|MGC129910|MGC129911 ephb6 protein-coding 736560 EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) Epoxide hydrolase plays an important role in both the activation and detoxification of exogenous chemicals such as polycyclic aromatic hydrocarbons. 1601064,1601063,1601065,1601066,1580863,1300048 7516776,18461673,17416773,17416769,17412371,17380322,17365145,17363767,17273734,17212663,17203192,17167268,17164366,17159790,17082176,17078101,17048007,17035385,17022435,16985026,16926176,16710414,16697254,16630050,16614120,16614101,16598069,16585076,16538176,16535827,16456143,16369102,16357600,16201204,16147638,16125881,16043197,16039674,16029924,16006997,16005144,15938845,15928955,15924351,15901990,15900282,15894702,15838728,15817713,15774926,18423013,18406439,18394656,18383527,18298806,18258609,18093316,17996038,17908297,17896209,17885617,17767854,17711870,17695473,17690329,17686149,17611777,17608547,17590289,17588204,17564249,17548691,17548684,17532303,17526865,17498780,15734960,15719050,15716486,15714076,15702235,15692831,15668489,15654505,15640939,15640066,15618730,15582499,15536330,15535985,15531751,15489334,15488121,15466980,15465926,15355699,15352038,15298956,15280903,15256148,15199549,17449559,15746160,15150264,12491039,12477932,12419832,12397416,12376511,12359356,12234472,12173035,12160895,12141066,12121132,12085365,12029283,11967624,11940289,11859435,11849215,11813302,11809533,11758809,11751440,11692079,11597790,11551408,11535253,15138035,15061915,15036125,14988221,14984931,14751678,14719475,14681495,14669306,14642084,14634838,12935919,12915882,12878321,12854128,12798882,12760253,12747973,12717779,12670526,12631667,12605384,12579334,12552594,12496064,11520401,11489754,11480169,11471167,11440964,11406608,11375900,11283205,11255266,11191882,11124296,11058921,10965908,10828267,10066160,9925921,9255563,7920694,7892276,7835893,3502697,2891713,2864485,2758034,17503272 1601064,1601063,1601065,1601066 2052 BC008291,BC095430,CR541963,CR593306,CR597496,CR602725,CR612771,CR612904,CR625608,J03518,L25878,L25879,M36374,X07936,Y00424,NM_000120,AF253417,AF276626,AF276627,AF276628,AF276629,AF276630,AF276631,AF276632,AF276633,AF276634,AF276635,AF276636,AF276637,AF276638,AL591895,AY948961,CH471098,U06661,X15459,BC003567 AAH08291,AAH95430,CAG46761,AAA61305,AAA52389,AAA52390,AAA59580,CAA30759,CAA68486,P07099,Q5VTJ7,Q5VTJ8,Q6FGZ3,ABM83432,ABM86646,AAH03567,NP_000111,AAC41694,AAF87726,AAF87727,AAF87728,AAF87729,AAF87730,AAF87731,AAF87732,AAF87733,AAF87734,AAF87735,AAF87736,AAF87737,AAF87738,CAH71992,CAH71993,CAH71994,AAX81410,EAW69754,EAW69755,EAW69756,EAW69757,AAB60649 Hs.89649 GDB:119876 EPHX|EPOX|MEH epoxide hydrolase 1 protein-coding 731054 EPHX2 epoxide hydrolase 2, cytoplasmic This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580978,1580979,1580981,1580982,1580985,1580986,1580863,1300048 10862610,18323494,18216721,17919073,17498780,17495027,17460077,16957870,16595607,16545818,16414022,16202848,16115816,15845398,15489334,15096040,14732757,14702039,14673705,14634838,12574508,12477932,12107410,11692079,8619856,8342951,8224376,7868134,7840649,6667124,6185139,3222228,2995393,2329521,1809223,1423213,1349227 1580978,1580979,1580981,1580982,1580985,1580986 2053 NM_001979,AF311103,CH471080,X97024,AF233334,AF233335,AF233336,AK094393,AK096089,AK096770,BC007708,BC011628,BC013874,BT006885,BX103698,CA397329,CR590101,CR590835,L05779 NP_001970,EAW63547,EAW63548,EAW63549,EAW63550,EAW63551,CAA65751,AAG14966,AAG14967,AAG14968,AAH07708,AAH11628,AAH13874,AAP35531,AAA02756,P34913,ABM83675,ABM86963 Hs.212088 GDB:371845 CEH|SEH protein-coding 736258 EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. 1299634,1580863 9931343,11001928,18070875,18029386,17646401,17509003,17337485,16971387,16959610,16901901,16115820,15489334,15009235,14722920,14706656,14702039,14643920,14532330,12915448,12782127,12560877,12477932,12019207,11883934,11739371,11735300,11220751,11175283,9771710,9345091,9222970,7485240 1299634 7957 NM_005670,NM_001018041,AL023806,AL031119,AL365193,CH471051,AF084535,AF284580,AF454491,AF454492,AF454493,AF454494,AJ130763,AJ130764,AK022721,AW291546,BC005286,BI463677,CR616412,BC070047 NP_005661,NP_001018051,CAI20057,CAI21675,CAI21676,CAI21677,EAW47842,EAW47843,EAW47844,AAC83347,AAG18377,AAO15523,AAO15524,AAO15525,AAO15526,CAA10199,CAA10200,AAH05286,AAH70047,O95278,Q5THQ4,Q5THQ6,Q6IS15 Hs.486696 GDB:3763331 EPM2|MELF epilepsy, progressive myoclonic epilepsy, type 2 gene alpha protein-coding 1322182 EPM2AIP1 EPM2A (laforin) interacting protein 1 1580863 18095154,15489334,14702039,12958597,12782127,12692553,12477932,9872452 9852 NM_014805,NG_007109,AC011816,CH471055,AB018309,AF059751,AF086312,AK002069,AY178832,BC012624,BC041957,BC064696,CR593956,CR603293 NP_055620,EAW64482,BAA34486,AAG43120,AAO21376,AAH64696,Q7L775 Hs.28020 FLJ11207|KIAA0766 protein-coding 1342807 EPN1 epsin 1 EPN1 is an endocytic accessory protein that interacts with EPS15 (MIM 600051), the alpha subunit of the clathrin adaptor AP2 (AP2A1; MIM 601026), and clathrin (see MIM 118960), as well as with other accessory proteins for the endocytosis of clathrin-coated vesicles.[supplied by OMIM] 632727 9723620,10567358,12218189,15962011,17081983,16903783,15694383,15489334,14702039,12836669,12477932,12353027,11382783,10791968,10764745,10692452,10557078,12775724 632727 29924 AC008735,AC010525,CH471135,AF073727,AK022454,BC044651,CR605988,NM_013333 NP_037465,EAW72405,EAW72406,EAW72407,EAW72408,AAD38326,BAB14041,AAH44651,Q9Y6I3 Hs.279953 protein-coding 1351510 EPN2 epsin 2 This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. 708327,1580863 17081983,16344560,15345747,15324660,15231748,14702039,12750376,12477932,12353027,10567358,10470851,9813051,9303539 708327 22905 NM_014964,NM_148921,NM_001102664,AC106017,AC124066,CH471212,AB028988,AF062084,AF062085,AK001491,AK001996,AK024115,AK092366,BC015488,BC051793,BC070036,BC093972,BC093974,CR592872,CR621978,DA220261,DC316524 NP_055779,NP_683723,NP_001096134,EAW50875,EAW50876,EAW50877,BAA83017,AAC78608,AAC78609,BAB14831,AAH70036,AAH93972,AAH93974,O95208,Q52LD0,Q6NSL9 Hs.655086 GDB:9957713 EHB21|KIAA1065 protein-coding 1315016 EPN3 epsin 3 1580863 16344560,15489334,15231748,14702039,12477932,11359770,10951261,8889548,16189514 55040 NM_017957,AC021491,CH471109,AF324241,AK000785,AK291658,AK292977,BC001038,BC051365,BC077722,BC110602,BC110605,BM981734,BU539570,CA944655,DA392550,DC388544 NP_060427,EAW94606,EAW94607,AAG45223,BAA91378,BAF84347,BAF85666,AAH01038,AAH51365,AAH77722,AAI10603,AAI10606,Q2TB25,Q9H201 Hs.670090 GDB:11505986 FLJ20778|MGC129899 protein-coding 735849 EPO erythropoietin This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety of potential brain injuries and antiapoptotic functions in several tissue types. 1580863 17353931,3838366,2849206,18458324,18219110,18201556,18160550,18093155,18091448,18074690,17984928,17952604,17893875,17893874,17888545,17873970,17713555,17652365,17647284,17645631,17636183,17615151,17597020,17577097,17540710,17481772,17467346,17395782,17389738,17372034,17360900,17145806,17081058,17045782,16936148,16909043,16883594,16838166,16699298,16684536,16645141,16627979,16467207,16332412,16286456,16278379,16229477,16123502,15993382,15988318,15856028,15795697,15777837,15769989,15743794,15728783,15718359,15709172,15709164,15705187,15671524,15627795,15590452,15502930,15489334,15467711,15389732,15363820,15347669,15339684,15257091,15240563,15210945,15967106,15205261,15183662,15160341,15142852,15112358,15053948,15019812,14990112,14755373,14747752,14724429,14718663,14704034,14671634,14584755,14583613,12975460,12960323,12937140,12853948,12829027,12801298,12759237,12734640,12525458,12482504,12477950,12477932,12476588,12463751,12419827,12381912,12362243,12239177,12212844,12207089,12192960,12187026,12171772,12130665,12091337,12082184,12068288,11994541,11920206,11919332,11906322,11906321,11869305,11865075,11861258,11854521,11493922,11305874,11259643,11239002,10984541,10318834,9847074,9808045,9799793,9774108,9539790,8396923,6698989,3949763,3865178,3462737,3462706,3346214,3219367,2875851,1820196,15073510,11782478,9113979,15674338 2056 AC009488,AF053356,AF202308,AF202310,AF202311,AF202314,CH471091,M11319,X02158,BC093628,BC111937,S65458,X02157,NM_000799 NP_000790,AAP22357,AAC78791,AAF23132,AAF23133,AAF17572,AAF23134,EAW76493,EAW76494,AAA52400,CAA26095,AAH93628,AAI11938,AAD13964,CAA26094,P01588 Hs.2303 GDB:119110 EP|MGC138142 protein-coding 736105 EPOR erythropoietin receptor The erythropoietin receptor is a member of the cytokine receptor family. Upon erythropoietin binding, the erythropoietin receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. 1580863 2163696,11781573,15644415,1668606,1848667,18349818,18250608,18158285,18059484,18006699,17995455,17912463,17893874,17647284,17597020,17524492,17488692,17483696,17363704,17293480,17145806,17110616,17038666,16982687,16699298,16627979,16608505,16278379,16161153,16084495,15953601,15878737,9808074,9808045,9793257,9774439,9774108,9649565,9573010,9488636,9371269,9334184,9292543,9192789,9162069,8977232,8861946,8662939,8662530,8647802,8639815,8608241,8506290,8400282,8343951,8174675,7889566,7796808,7795221,7651724,7559499,7534299,2163695,1668607,1664413,1657727,1654273,1324524,1310150,15709172,15709164,15671524,15657048,15777837,15769989,15572213,15489334,15480420,15467711,15358619,15329338,15249201,15205261,15160341,14982882,14584755,12960323,12878211,12746455,12538595,12525458,12488507,12477932,12441334,12118093,12113907,12027890,12021194,11999556,11994541,11884148,11784712,11782306,11779507,11756159,11722595,11443118,11305874,11124255,11000476,10984541,10882725,10660611,10455108,10388848,10374881,10318834,10084959,9974392,9852052 2057 X57282,X97671,NM_000121,AC024575,CH471106,M76595,M77244,S45332,BC019092,BC112153,CR592865,CR597800,CR610088,CR613702,CR618473,CR620075,M34986,M60459 CAA40550,CAA66260,P19235,Q8TEP0,NP_000112,EAW84205,EAW84206,EAW84207,EAW84208,AAA52393,AAA52392,AAB23271,AAI12154,AAA52401,AAA52403 Hs.631624 GDB:125242 MGC138358 protein-coding 1343625 EPPK1 epiplakin 1 1580863 17353931,17081983,16565220,16083285,15671067,14708632,12791695,12665801,12577067,11278896,8618051 83481 NM_031308,AB107036,AC105049,AC109322,CH471162,AB051895,AL137725 NP_112598,BAC92750,EAW82176,BAB40803,CAB70895,P58107,Q9NSU9 Hs.200412 GDB:11508767 EPIPL|EPIPL1 protein-coding 1347671 EPR1 effector cell peptidase receptor 1 This locus represents an antisense transcript of the survivin locus. 1580863 16341674,15112339,12477932,12441269,11686347,10891443,9556606,8106347,7947793,7615156,9079657 8475 NR_002219,AC087645,AF086186,BC001735,BM839824,L26245 Hs.514527,Hs.700219 GDB:9958921 BIRC5OS|EPR-1 miscrna 1322145 EPRS glutamyl-prolyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. 1580863 17353931,8188258,18374644,16964243,15994936,15479637,15302935,12477932,11123902,10913161,9878398,9556618,8889549,3290852,2227938,1988429,1756734,1651330,1556743,14743216,11829477 2058 X72416,X72417,X72418,X72419,X72420,X72421,AA196283,AY493416,BC015494,BC034797,AC103590,CH471100,BC046156,BC058921,BC067841,BC105983,BC126275,CR591253,CR609722,CR622328,CR933648,N85252,X07466,X54326,X72396,X72397,X72398,X72399,X72400,X72401,X72402,X72403,X72404,X72405,X72406,X72407,X72408,X72409,X72410,X72411,X72412,X72413,X72414,X72415,NM_004446 AAS72877,AAH15494,NP_004437,EAW93309,EAW93310,AAH34797,AAH46156,AAH58921,AAI05984,AAI26276,CAI45949,CAA30354,CAA38224,P07814,Q3KQZ8 Hs.497788 GDB:126609 DKFZp313B047|EARS|GLUPRORS|PARS|PIG32|QARS|QPRS protein-coding 1313642 EPS15 epidermal growth factor receptor pathway substrate 15 This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 10567358,12218189,15962011,15465819,18395097,17626015,17081983,16964243,16710414,16429130,16325581,16159959,16036216,15951569,15767409,15231748,14755250,14702039,14671106,12807910,12551915,12477932,12072436,11919637,11872741,11723124,11483962,11381094,11062555,10953014,10922467,10809762,10791968,10757979,10514494,10393179,10383425,10064583,9723620,9721102,9490719,9428629,9407139,9303539,9182572,9110174,9049247,8662907,8662627,8619474,8134107,7797522,10613896,8183552,9762922 2060 NM_001981,AC104170,AL110230,AL671986,CH471059,AF052132,AK090936,AK129853,BC054006,BX647676,CD657119,DQ367924,U07707,Z29064 NP_001972,EAX06822,EAX06823,EAX06824,AAH54006,ABD34786,AAA52101,CAA82305,P42566,Q5SRH3,Q7Z5V0 Hs.83722 GDB:360337 AF-1P|AF1P|MLLT5 protein-coding 1345399 EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1 1580863 10567358,12218189,15962011,17081983,16964243,16903783,15302935,15144186,14702039,12477932,11777906,11381094,10906484,10613896,9853615,9723620,9446614,9407958,9303539 58513 BC142662,BC142716,AC008764,AC020917,CH471106,AB015346,AF110265,AK023744,AK024166,AK025770,AK291359,AL110270,BC037558,BC051873,BC067114,BC131590,NM_021235 AAI31591,AAI42663,AAI42717,Q69YZ4,Q9UBC2,NP_067058,EAW84542,EAW84543,EAW84544,EAW84545,BAA88118,AAF21930,BAF84048,CAH10724 Hs.654639 EPS15R protein-coding 1348027 EPS15L2 epidermal growth factor receptor pathway substrate 15-like 2 55380 AC073275,AF119858 AAQ93366,AAF69612,Q9P188 PRO1866 pseudo 1321587 EPS8 epidermal growth factor receptor pathway substrate 8 This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 8084614,9010225,15289329,17537571,17115031,17081983,15489334,15273867,12477932,12127568,11524436,11185075,11099046,10581192,10499589,10395945,8700527,8404850,7791787,7566980,7537362,7532293,1049958,14565974,16189514,8700515,9303002 2059 NM_004447,AC073651,AC092753,CH471094,AI219284,AK291777,AK292931,BC005836,BC030010,BI667617,U12535 NP_004438,EAW96354,EAW96355,BAF84466,BAF85620,AAH30010,AAA62280,Q12929 Hs.591160 GDB:434312 protein-coding 1322450 EPS8L1 EPS8-like 1 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 16344560,15498874,15489334,14702039,14565974,12620401,12477932,10514543 54869 NM_017729,AC005782,AC011476,AF282168,CH471135,AF282167,AF370395,AK000265,AK057052,AK075098,AY074928,BC004907,BC015763,DA452167,DB018703,NM_133180 NP_573441,NP_060199,AAG03039,EAW72328,EAW72329,EAW72330,EAW72331,AAG03038,AAQ15231,BAA91041,BAC11399,AAL76117,AAH04907,AAH15763,Q8TE68 Hs.438862 DRC3|EPS8R1|FLJ20258|MGC23164|MGC4642|PP10566 protein-coding 1322090 EPS8L2 EPS8-like 2 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. 16083285,15498874,15489334,14702039,14565974,12620401,12477932,9373149,8125298 64787 AP006621,CH471158,AF318331,AK025588,AK025824,AK027765,AK094539,AK122903,AK122984,AK222903,AK225311,AY074929,BC002474,BC080636,BC093878,NM_022772,BC101481 NP_073609,EAX02375,EAX02376,AAL55838,BAB15180,BAB15248,BAB55354,BAD96623,AAL76118,AAH80636,AAH93878,AAI01482,Q9H6S3 Hs.55016 EPS8R2|FLJ16738|FLJ21935|FLJ22171|MGC126530|MGC3088 protein-coding 1318007 EPS8L3 EPS8-like 3 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. 12620401,12477932,9373149 79574 Q8TE67 NM_139053,NM_133181,NM_024526,AL158847,CH471122,BC012926,AK025175,AK225235,AY074930 NP_620641,NP_573444,NP_078802,CAI22582,CAI22583,CAI22584,EAW56410,EAW56411,EAW56412,EAW56413,EAW56414,EAW56415,AAH12926,Q8TE67,BAB15081,AAL76119 Hs.485352 EPS8R3|FLJ21522|MGC16817 protein-coding 1353297 EPSTI1 epithelial stromal interaction 1 (breast) 12477932,11991720,7566098 94240 NM_033255,NM_001002264,AL137878,AL445217,CH471075,CQ834892,AA372477,AF396928,AK292461,AL831953,BC023660,BU603558,CR598260 NP_150280,NP_001002264,CAI13478,EAX08684,EAX08685,EAX08686,CAH05661,AAK73753,BAF85150,CAD38599,AAH23660,Q96J88,ABM83194,ABM86395 Hs.546467 GDB:11505988 BRESI1|MGC29634 protein-coding 1323569 EPX eosinophil peroxidase 1580863 10386597,16336215,15894800,15316147,14657871,12540536,12477932,11076863,10971470,10828600,10358043,7809065,2550461,2541222 8288 NM_000502,AC005962,CH471109,DQ054598,M29904,M29913,AJ705406,AL597635,BM147889,X14346 NP_000493,EAW94479,EAW94480,AAY43126,AAA58458,CAA32530,P11678,AAI11603 Hs.279259 GDB:377700 EPO|EPP|EPX-PEN protein-coding 1314212 EPYC epiphycan Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. 1580863 8975717,17558846,16902402,15489334,12477932,10330124 1833 NM_004950,AC078873,AF031658,CH471054,AK290642,BC030958,CR598976,CR612682,U59111 NP_004941,EAW97444,EAW97445,EAW97446,EAW97447,BAF83331,AAH30958,AAC50945,Q99645 Hs.435680 GDB:1297552 DSPG3|PGLB|Pg-Lb|SLRR3B dermatan sulfate proteoglycan 3 protein-coding 1315507 ERAF erythroid associated factor 1580863 12066189,18166800,17874450,17194704,16339656,16189514,16186125,15489334,15220346,14715623,14667971,12477932,12192002,11231637,11042152 51327 NM_016633,AC106730,AF485325,AY072612,CH471192,AF112995,AF147435,AF208865,AF364517,BC035842,CR599801,H94920 NP_057717,AAO49381,AAL82894,EAW52118,AAP97228,AAF64279,AAK50856,AAH35842,Q549J4,Q9NZD4,ABM81851,ABM85002 Hs.274309 GDB:11508379 AHSP|EDRF protein-coding 1312320 ERAL1 Era G-protein-like 1 (E. coli) 1580863 15489334,14759258,14702039,12477932,11733036,10945472 26284 NM_005702,AC024267,CH471159,AB049388,AF082657,AF082658,AK023342,AY007435,BC019094,BX537542,CR592491,CR592743,CR600900,CR601873,CR609444,CR609631,CR611953,CR614207,CR626187,CR605279 NP_005693,EAW51146,EAW51147,EAW51148,EAW51149,BAB56112,AAC31603,AAC31604,AAG12978,AAH19094,O75616,ABM83552,ABM86792 Hs.3426 GDB:10795381 ERA|ERAL1A|HERA-A|HERA-B protein-coding 732566 ERAP1 endoplasmic reticulum aminopeptidase 1 Aminopeptidases play a role in the metabolism of several peptides that may be involved in blood pressure and the pathogenesis of essential hypertension (MIM 145500). Adipocyte-derived leucine aminopeptidase (ALAP) is a member of the M1 family of zinc metallopeptidases.[supplied by OMIM] 1578804 15691326,12748171,10220586,17952073,11056387,17390085,17015730,16585582,16407280,16344560,16286653,16054015,15908954,15489334,15314084,14662887,12975309,12477932,12436110,12436109,12368856,12189246,12168954,11857741,11481040,9628581,9373149,8125298 1578804 51752 NM_016442,NM_001040458,AC008906,CH471084,AB011097,AF106037,AF183569,AF222340,AK222873,AK291636,AL110186,AY028806,AY028807,AY358590,BC030775,DA327238,DA704693 NP_057526,NP_001035548,EAW96077,EAW96078,EAW96079,BAA25451,AAF07395,AAF20384,AAF34664,BAD96593,BAF84325,AAK37777,AAK37778,AAQ88953,AAH30775,Q53GQ8,Q9NZ08 Hs.436186 A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|KIAA0525|PILS-AP|PILSAP leucyl-specific aminopeptidase pils protein-coding 1605959 ERAP2 endoplasmic reticulum aminopeptidase 2 Aminopeptidases hydrolyze N-terminal amino acids of proteins or peptide substrates. Major histocompatibility complex (MHC) class I molecules rely on aminopeptidases such as ERAP1 (MIM 606832) and LRAP to trim precursors to antigenic peptides in the endoplasmic reticulum (ER) following cleavage in the cytoplasm by tripeptidyl peptidase II (TPP2; MIM 190470) (Tanioka et al., 2003 [PubMed 12799365]).[supplied by OMIM] 12799365,15691326,17129607,16585582,16054015,15908954,12477932,11481040 64167 NM_022350,AC008850,AC009126,CH471084,AB109031,AB163917,AF191545,AK074213,AK074281,AK074387,AY028805,BC017927,BC065240,CR610687 NP_071745,EAW96080,EAW96081,EAW96082,BAC78818,BAD90015,AAG28383,AAK37776,AAH17927,AAH65240,Q6P179 Hs.591249 FLJ23633|FLJ23701|FLJ23807|L-RAP|LRAP protein-coding 1345319 ERAS ES cell expressed Ras 1580863 18174262,16081664,15489334,12774123,12477932,6322122,9344703,9269777,16436505 3266 NM_181532,AF196971,CH471224,X00419,AB093575,BC101642,BC101644 NP_853510,EAW50743,BAC76997,AAI01643,AAI01645,Q7Z444 Hs.447330 HRAS2|HRASP|MGC126691|MGC126693 protein-coding 619563 ERBB2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. 1580988,1580989,1580990,734938,734939,734940,1580863,2289947,2289920,2289921,2289922,2289923,2289924,2289925,2289926,2289927,2289928,2289930,2289931,2289932,2289933,2289941,2289981,2289987,2289979,2289955,2289934,2289935,68774,2289950,2292909 12820343,12820339,12820337,12807903,12798775,12775708,12768307,12759537,12754302,12748185,12738987,12712452,12698199,12687010,12686539,12683217,12659685,12620236,12610629,12607595,12603863,12586780,12579211,12576424,12574167,12569382,12560434,12553037,12544770,12532415,12529347,12527905,12517790,12517789,12517775,12483526,12477932,12474525,12462379,12461170,12451999,12444095,12825853,16963450,16959370,16947041,16912207,16905272,16901007,16879393,16868827,16864174,16857791,16847810,16799708,16797938,16794579,16786139,16782798,16781665,16761619,16752078,16733844,16729043,16718853,16690615,16686942,16685446,16685382,16685269,16685109,16682622,16682283,16681853,16681686,16627989,16627988,16624867,16622439,16609045,16596190,16595141,16551854,16538540,16490596,16489645,16489114,16457687,16457151,16445653,16434967,16405663,16401639,16397024,16395492,16377629,16372244,16357062,16314522,16307437,16286993,16286979,16273189,16199884,16195766,16184431,16169726,16168116,16168106,16168103,16158422,16153159,16112085,16108032,16075281,16048908,16045813,16003726,16000588,16000574,15987431,15970791,15948146,15917726,15899781,15888451,15870067,15867269,15862947,15860504,15856473,15856022,15837541,15809766,15809708,15784621,15757908,15756435,15754131,15743888,15743501,12439914,12438265,12434309,12432555,12419588,12418962,12380307,12379776,12374672,12368191,12362975,12354693,12242338,12239347,12237894,12209684,12203362,12202942,12198768,12181354,12174951,12174949,12174885,12174876,12168050,12166652,12143054,12135609,12127695,12122014,12118253,12115729,12115372,12097278,12093292,12088102,12065844,12060497,12049736,12032832,11986780,11984589,11972392,11960991,11953857,11950845,11940572,11920494,11914075,11910656,11901151,11895493,11891317,11857355,11850542,11850540,11850076,11850071,11841227,11839684,11839675,11839672,11839648,11836576,11821958,11807823,11786427,11759828,11751413,11731415,11700053,11687512,11606575,11598901,11578807,11500850,11500516,11375975,11278868,11278603,11173924,11106692,11071886,11067847,11003669,10918572,10878805,10839362,10829039,10805725,10799311,10713673,10593938,10372802,10329415,9774445,9710588,9705354,9685399,9662041,9590694,15504738,7514177,16843263,10485918,10572067,18056992,18055238,18045647,18039657,18038879,18035692,18025271,18025083,18008005,18006808,17992604,17987577,17982484,17975153,17973263,17964790,17940352,17938328,17927588,17922046,17918664,17916906,17914096,17906451,17899385,17883115,17879632,17855075,17852076,17848143,17847085,17761519,17719580,17717428,17706017,17704139,17693647,17690040,17687647,17671674,17661082,17652160,17644807,17633393,17631500,17627014,17626639,17626164,17622245,17613170,17612563,17611666,17611648,17593080,17575133,17571214,17563746,17561991,17558895,17555797,17549665,17549377,17549356,17549338,17545611,17541441,17536308,17511881,17487844,17487843,17487277,17478762,17473658,17470737,17468948,17466328,17453369,17452776,17451461,17449250,17440164,17431415,17393979,17388661,17374991,17361205,17351254,17322545,17321325,17319852,17301075,17292332,17262082,17243161,17221157,17214955,17211534,17203384,17203234,17200337,17187484,17177598,17164260,17150109,17132159,17117180,17102066,17092940,17081983,17081046,17079488,17056098,17030621,17018616,17016520,17006756,16984552,16963452,15235125,15233293,15217943,15211117,15210733,15201979,15201972,15194824,15190415,15179190,15173090,15173068,15167216,15156151,15146197,15143334,15140287,15137060,15135067,15126109,15120910,15083213,15077922,15044465,15026342,15014023,15014012,15004021,14991576,14983012,14966375,14761474,14747462,14744769,14743203,14742716,14737100,14734462,14724581,14724563,14719098,14711810,14697248,14696118,14689059,14682475,14680497,14666627,14664140,14660651,14647146,14634801,14631375,14628084,14614702,14614020,14613025,14612949,14607699,14601058,14580260,14578197,14578152,14576349,14569185,14566828,14566826,14563447,14555987,14555515,14520697,14520464,12970748,12942124,12917345,12910292,12897328,12888923,12883692,12874758,12867284,12860948,12853564,12846420,12839972,10851066,7556068,15609325,12646923,12000754,18438707,18426980,18381409,18348656,18339869,18332872,18316619,18316615,18316611,18316586,18310300,18286776,18258606,18255265,18254960,18251938,18248553,18237248,18237245,18214297,18211286,18208799,18202752,18199554,18189290,18187820,18182111,18178548,18177484,18174256,18172732,18097576,18091319,18090908,18089823,18087195,18079969,18078328,18067636,18062925,15743039,15735564,15731393,15722788,15721309,15693849,15688416,15688030,15685397,15674342,15650840,15650272,15646832,15638369,15632176,15625017,15592685,15585632,15583858,15579904,15572377,15569994,15561777,15557433,15550452,15542430,15461591,15457249,15447984,15389808,15380516,15374636,15335267,15330164,15254682,15247985,9154120,9079677,8889548,8632892,8617772,8104414,8095488,7907235,7702605,7542762,7538656,3945311,3039351,3003577,2999974,2995967,2992089,2470152,1706616,1683701,1681519,1676673,1351056,1334406,12939402,11245482,9168114,10710290,1677643,15311210,15788656,15652750,15643424 1580988,1580989,1580990,734938,734939,734940,2289947,2289920,2289921,2289922,2289923,2289924,2289925,2289926,2289927,2289928,2289930,2289931,2289932,2289933,2289941,2289981,2289987,2289979,2289955,2289934,2289935,68774,2289950,2292909 2064 NM_001005862,NM_004448,NG_007503,AB025285,AB221349,AB221350,AC079199,AC087491,AY208911,CH471152,L29395,M11767,M12036,M16792,M86910,M95667,AB025286,AF177761,AK131568,BC080193,BC110392,BC167147,BI755753,BM678576,CN409735,CR591377,CR592336,M11730,X03363 NP_001005862,NP_004439,BAE15959,BAE15960,AAO18082,EAW60595,EAW60596,EAW60597,AAA35809,AAA35808,AAA35978,AAA58637,AAF30295,AAC37531,AAD56009,BAD18701,AAI67147,AAA75493,CAA27060,P04626,Q4H1F1,Q4H1F2,Q6ZMM4,Q8WYV0,Q9NP09,Q9UK79,AAI56756 Hs.446352 GDB:120613 CD340|HER-2|HER-2/neu|HER2|NEU|NGL|TKR1|c-erb B2 protein-coding 1321667 ERBB2IP erbb2 interacting protein This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only two of them have been characterized to date. 1580863 11375975,16714539,10878805,17591701,17100642,17081983,16737969,16301319,16203728,16094384,15592455,15570572,15489334,15302935,15231748,15144186,14702039,12966186,12650946,12477932,12446668,12444095,12379659,12370826,12168954,12047349,11821434,11711544,11440998,11279080,11278603,10574462 55914 NM_018695,NM_001006600,AC010359,AC025442,CH471137,AB033051,AF263744,AF276423,AI082776,AK001180,AK027077,AK074288,AL704641,BC050692,BC115012,BC115015,BC126464,CB998970,D62071 NP_061165,NP_001006600,EAW51332,EAW51333,EAW51334,EAW51335,BAA86539,AAF77048,AAK69431,BAA91538,AAH50692,AAI15013,AAI15016,AAI26465,A0AVR1,Q1RMC9,Q1RMD0,Q96RT1 Hs.591774 GDB:11500741 ERBIN|LAP2 protein-coding 733426 ERBB3 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. 1580863,2289947,2289967,2289949,2289980,68774,2289942,2289944,2289979,2289946,2289952,2289941,2289950,2289951 17697999,17671674,17652160,17638862,17634423,17631905,17627612,17463250,17275115,17210635,17203234,17177598,16958035,16896310,16867224,16729043,16690615,16685269,16675564,16622439,16401639,16307437,16199884,16143043,15862947,15731393,15704104,15688028,15611073,15520002,15499613,15498868,15489334,15378541,15358134,15225657,15162166,15141384,14737100,14702039,14647450,14614020,11389077,7514177,10572067,7556068,10559227,17701904,12646923,2687875,18381441,18172732,18056992,18036567,18024331,17823122,14576349,12888923,12853564,12840049,12824184,12789268,12768307,12618754,12556529,12483526,12477932,12411582,12154198,12093292,11914075,11859873,11821958,11807823,11555649,11546794,11337467,11326315,11325528,11278868,11189010,11173924,11166154,11114724,10799311,10710290,10682683,10527633,10383151,10095121,9694850,9681822,9565587,9516479,9168115,9168114,8669836,8188716,7847801,7689552,7685162,7656248,7592681,7538656,2164210,16189514 2289947,2289967,2289949,2289980,68774,2289942,2289944,2289979,2289946,2289952,2289941,2289950,2289951 2065 NM_001005915,AC034102,CH471054,U88356,AK124710,AK125028,AK291681,AU100462,BC002706,BC041579,BC082992,BM837872,BT007226,NM_001982,M29366,M34309,S61953,U88357,U88358,U88359,U88360,BX641868,CR621450 NP_001973,NP_001005915,EAW96879,EAW96880,EAW96881,EAW96882,EAW96883,AAF86628,BAF84370,AAH02706,AAH82992,AAP35890,AAA35790,AAA35979,AAB26935,AAC39857,AAC39858,AAC39859,AAC39860,O75810,O75811,O75812,O75813,P21860,Q9BUD7,Q9NNX2 Hs.118681 GDB:119880 ErbB-3|HER3|LCCS2|MDA-BF-1|MGC88033|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3 avian erythroblastosis oncogene b 3 protein-coding 732538 ERBB4 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 734941,1580863,1580989,2289949,2289978,2289992,2289977,2289981,2289942,2289956,2289979,2289943,2289947,2289993,2289980,2289987,2289950,2289951 9419975,10572067,11867753,8383326,12646923,18094435,17945187,17909041,17903305,17761534,17681096,17638867,17598910,17505063,17487277,17177598,17164265,17018285,16934755,16914727,16912174,16891421,16878160,16842254,16832345,16819515,16778220,16767099,16729043,16685269,16606438,16518842,16477370,16463386,16428439,16402353,16251361,16249994,16203964,16187281,16170367,16061658,15985438,15979989,15863494,15788662,15746097,15735025,15685397,15562026,15534001,15489334,15248827,15084248,15026342,15023535,14702039,12869563,12807903,12678544,12648466,12637154,12532415,12528817,12477932,12454007,12297288,12175853,11825873,11741961,11679632,11278868,11254912,10918572,10725395,10537356,10353604,10348342,9771476,9565587,9516479,9334263,9275162,9230911,9168115,9168114,9135143,9110174,8619474,8617750,8062828,7721889,7700649,7689552 734941,1580989,2289949,2289978,2289992,2289977,2289981,2289942,2289956,2289979,2289943,2289947,2289993,2289980,2289987,2289950,2289951 2066 NM_001042599,NM_005235,AC012069,AC068970,AC079119,AC092680,AC092840,AC093823,AC096547,AC096765,AC105921,AC108216,AC108220,CH471063,CS238515,AB209697,AF007153,AI793060,AK024204,AK126298,BC112199,BQ015804,CR627023,L07868 NP_001036064,NP_005226,AAY15092,AAX88856,AAY14899,AAX82011,AAY24158,AAY24303,EAW70496,EAW70497,EAW70498,CAJ55818,BAD92934,AAI12200,AAB59446,Q15303,Q4ZG14,Q53QS8,Q53R25,Q53R48,Q53T57,Q580Q7 Hs.390729 GDB:569348 HER4|MGC138404|p180erbB4 receptor tyrosine kinase protein-coding 1604628 ERC1 ELKS/RAB6-interacting/CAST family member 1 The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene. 15218148,12391317,12923177,17690697,16964243,15489334,15324660,14723704,14702039,12477932,12203787,12168954,11929610,10697956,10470851,10337992,1733848,16189514,17353931 23085 NM_015064,NM_178040,NM_178039,NM_178038,AC004671,AC004672,AC004802,AC004803,AC004804,AC006561,AC092469,CH471116,X58046,AB015617,AB029004,AB053468,NM_178037,AB053469,AB053470,AB053471,AK000148,AK091577,AK092201,AK097177,BC005065,BC037377,BC068006,BC073885,BC132782,BC132784,BC150248 NP_829881,NP_055879,NP_829884,NP_829883,NP_829882,EAW88932,EAW88933,EAW88934,EAW88935,EAW88936,EAW88937,EAW88938,EAW88939,EAW88940,BAA88763,BAA83033,BAC54107,BAC54108,BAC54109,BAC54110,BAA90975,BAC03827,AAH05065,AAH68006,AAI32783,AAI32785,AAI50249,Q8IUD2,Q9BSG3 Hs.658200 Cast2|ELKS|KIAA1081|MGC12974|RAB6IP2 protein-coding 1607056 ERC2 ELKS/RAB6-interacting/CAST family member 2 12923177,15728193,15489334,14734538,14723704,12477932,12391317,12168954,12163476,9205841 26059 NM_015576,AC025572,AC098478,AC099775,AC104302,AC105748,AC105753,AC116991,AC121255,AC121764,AC126119,AC130276,CH471055,AB002376,BC111550,BC112391 NP_056391,EAW65315,EAW65316,BAA20832,AAI11551,AAI12392,O15083 Hs.476389 CAST|CAST1|ELKSL|KIAA0378|MGC133063|MGC133064|SPBC110|Spc110 protein-coding 1315921 ERCC1 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 1580863 17720715,9722633,16076955,7559382,8811092,17055345,10583946,7657672,9256505,17614221,14690602,10214908,11313499,8197175,18483312,18478337,18451256,18386788,18358500,18347182,18332046,18289367,18270339,18204222,18026184,18024864,18006494,17961161,17932351,17925548,17912758,17685459,17617021,17606717,17549067,17534174,17502833,17438655,17401013,17314486,17313739,17303907,17299578,17273966,17229776,17222938,17210993,17197435,17151930,17131345,17078101,17064812,16985021,16979838,16899630,16896002,16875718,16819291,16817948,16723154,17522621,16690207,16622263,16609022,16537713,16510122,16507781,16407418,16393248,16364765,16351803,16338413,16315315,16308313,16284380,16284373,16224397,16212814,16195237,16189514,16144923,16034668,15958648,15936590,15932882,15922480,15885892,15849729,15788669,15746057,15746040,15734977,15709194,15688021,15489334,15297394,15277258,15213713,15173087,15140544,15095299,14734547,14702039,12869411,12865926,12800797,12645871,12643788,12477932,12220217,12189194,12164325,11936875,11753647,11707424,11062157,10498399,10320375,9827920,9653453,9360634,8432525,8275084,8197174,7598728,6462228,3290851,3034490,2821019,2471070,2420469 2067 NM_001983,NM_202001,AC092309,AC139353,AF512555,CH471126,M26163,AA761510,AB069681,AF001925,AF433652,AK092039,BC008930,BC052813,BM011724,BM450988,BM789972,BQ671113,BT019806,BU627436,CR590512,CR616265,M13194,M28650 NP_001974,NP_973730,AAM34796,EAW57348,EAW57349,EAW57350,AAA52395,BAB62810,AAC16253,AAL56574,AAH08930,AAH52813,AAV38609,AAA52394,AAA35810,P07992,Q7Z7F5,Q8WWH8,Q96S40,ABM83928,ABM87247 Hs.435981 GDB:119111 COFS4|UV20 protein-coding 1319264 ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. 1331525,1601070,1601068,1601069,1580863 8663148,11445587,10801852,8652557,8692842,9405375,2835663,17088560,11335038,8675009,10583946,8692841,17614221,8946909,7663514,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,18483312,18478337,18459458,18454848,18448328,18442012,17896209,17825393,17728339,17712032,17705814,17696747,17695467,17693188,17687452,17685459,17637462,17630853,17630376,17627014,17617021,17605237,17604576,17593927,17575242,17556064,17549067,17548684,17531525,17504986,17498557,17479411,17470448,17466626,17438703,17438655,17412371,17410042,17409981,17403617,17401013,17374967,17363013,17313739,17299578,17290401,17264068,17242676,17210993,17197435,17191090,17164380,17164360,17158087,17151930,18415712,18415014,18394656,18386788,18365755,18358500,18349297,18349268,18420361,18347182,18335219,18320070,18315909,18267032,18230301,18204222,18196582,18177646,18085999,18075460,18044339,18035379,18006925,17953974,17952468,17932351,17925548,17913280,17912469,17898541,17131345,17111423,17078101,17063276,17050553,17023576,17018785,17009404,16997330,16985021,16896002,16889696,16880786,16875933,16875718,16875604,16865671,16835333,16824555,16823510,16806697,16738949,16710452,16707649,16685590,16677755,16038584,16037119,16030124,16030112,16002061,16000577,15992842,15971256,15941969,15936590,15914277,15914210,15896456,15887293,15886521,15885892,15878910,15849729,15837542,15834925,15824172,15824159,15802298,15776433,15764301,15754315,15746160,15746040,15729710,15709194,15679883,15635413,15615908,15598761,15598760,15534626,15523694,15489334,16043197,16652373,16649224,16646069,16639601,16638864,16622263,16609022,16571649,16564556,16542436,16537713,16507781,16492920,16492913,16475125,16465622,16458430,16435384,16407418,16399771,16373199,16369171,16351803,16343742,16324877,16319991,16311243,16308313,16284380,16284373,16284370,16280050,16258177,16217922,16214924,16212814,16195237,16172101,16150943,16061005,16054878,16672066,15471894,15381366,15339847,15333465,15298945,15277258,15220921,15213713,15199549,15199548,15173214,15159312,15140544,15090466,9334327,9311822,9238033,9195225,9184228,9130708,9121429,9118947,9101292,9054383,8934526,8876669,8849451,8786141,8628270,8571952,8413672,8213812,7920640,7849702,7825573,7585650,2184031,1729695,16189514,14735199,14729591,14702039,14688016,14668933,14652287,14625810,14624713,14569024,14568296,12883749,12865926,12844488,12820975,12749816,12740916,12692111,12645871,12579497,12552590,12477932,12458209,12451985,12435843,12399122,12393447,12376500,12372413,12359753,12243508,12220217,12151350,12124811,12115580,12110342,11960912,11891028,11888908,11872635,11751380,11709541,11532866,11470747,11443545,11375896,11319176,11309287,11278765,11266560,11266437,11245433,11242112,11238179,11156600,11133811,11062469,10866664,10447254,10438593,10082552,10066804,10024882,9771713,9766681,9765201,9758621,9651670,9570510 1331525,1601070,1601068,1601069 2068 X52222,NG_007067,AY092780,CH471126,L47234,AK092872,AK130849,BC008346,BC108255,BC110522,BC110523,BM769772,BM988142,BT006883,BX376468,X52221,NM_000400 CAA36464,P18074,Q2TB78,Q2TB79,Q6ZNQ5,Q7KZU6,NP_000391,AAM45142,EAW57341,EAW57342,AAL48323,BAC85446,AAI08256,AAI10523,AAI10524,AAP35529,CAA36463 Hs.487294 GDB:119112 COFS2|EM9|MGC102762|MGC126218|MGC126219|TTD|XPD protein-coding 1316156 ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus functions in class II transcription. 1598911,1598912,1580863 10866664,10862089,10827951,10734143,10447254,10438593,10403766,10082552,10066804,10024882,9874796,9765201,9651670,9570510,9373149,9334327,9311822,9184228,9130708,9121429,9118947,9054383,9012405,8934526,8876669,8849451,8628270,8408834,8304337,8202161,8194528,8157004,8152490,8125298,7926747,2111438,1956789,1916809,8692842,7663514,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,17081983,16835333,16710452,15549133,15489334,15375507,15220921,14702039,14614013,14569024,12865926,12820975,12477932,12393803,12372413,12080057,11572868,11278765,1741247,16189514,15893730,12379483,17466626,8663148,2167179,10801852,8652557,9173976,9405375,17088560,11335038,16914395,8675009,10583946,8692841,17509950,17614221,8946909 1598911,1598912 2071 NM_000122,NG_007454,AC110926,AY163769,CH471103,AK091500,AK095557,AK127469,AK222465,AK290474,BC008820,CR612390,M31899 NP_000113,AAY15069,AAN46739,EAW95311,EAW95312,EAW95313,EAW95314,BAD96185,BAF83163,AAH08820,AAA52396,P19447,Q53HW5,Q53QM0,ABM84728,ABW03630 Hs.469872 GDB:119881 BTF2|GTF2H|RAD25|TFIIH|XPB protein-coding 1312517 ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4 Nucleotide excision repair (NER), which is defective in xeroderma pigmentosum (see MIM 278700), involves incision of a DNA strand on each side of a lesion. There is evidence that the 2 incisions made during NER are catalyzed by separate DNA endonucleases (Sijbers et al., 1996 [PubMed 8797827]). In humans, XPG endonuclease (MIM 133530) makes the 3-prime incision relative to the lesion. The ERCC4 gene encodes a protein that together with ERCC1 (MIM 126380) make up the ERCC1-XPF 5-prime endonuclease.[supplied by OMIM] 1580863,1601093 16195237,16076955,16034668,14734547,8797827,9722633,14728600,17055345,10583946,16678501,14690602,10214908,11313499,12571280,18270339,18068852,18026184,18006494,17945097,17912758,17685459,17682675,17575242,17438655,17313739,17299578,17210993,17081983,17078101,17018596,16823510,16806697,16639601,16638864,16609022,16537713,16492920,16399771,16393248,16338413,16284380,16284373,16258177,11790111,10413517,8197175,15936543,15932882,15886521,15849729,15184880,15095299,14652281,14625810,12477932,11895912,11259578,10644440,10479728,10447254,10074455,9580660,9579555,9485007,8887684,8332082 1601093 2072 NM_005236,AC010401,AF491814,CH471112,L76568,L77890,AI470593,AK289726,BC020741,BC142631,U64315 NP_005227,AAL91593,EAW85117,EAW85118,AAB50174,BAF82415,AAH20741,AAI42632,AAB07689,Q92889,AAI60102 Hs.660606 GDB:119113 RAD1|XPF protein-coding 1342473 ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been described, but the biological validity of all variants has not been determined. 1580863 16246722,8090225,12644470,8652557,10026181,7510366,16167068,10583946,7657672,17208056,11259578,10214908,11313499,16823510,16738949,16646069,16609022,16537713,16536785,16507781,16492920,16399771,16343742,16284373,16284370,16258177,16195237,16094634,16043197,15992842,15849729,15746040,15590680,15572672,15494739,15489334,15328203,15302935,15082767,14729591,14726017,14688016,12869423,12865926,12494477,16979838,8710877,18478970,18320070,18270339,18204222,18079701,18026184,17932351,17893230,17855454,17825393,17712032,17685459,17575242,17494052,17476281,17466625,17438655,17374967,17313739,17299578,17164380,17121236,17081983,17078101,16985021,12477932,12060391,11841555,11266544,11228268,10498399,10447254,10408173,9927729,9305916,9096355,9020084,8483505,8483504,8413238,8206890,8088806,8078765,7951246,7651464,7517009,2276736,1483924,16189514 2073 NM_000123,NG_007146,AF255433,AF255436,AF550128,AL157769,CH471085,X71341,X71342,AF462447,BC031522,BQ707436,BX647399,D16305,L20046,X69978 ABM82744,ABM85932,Q9NR54,NP_000114,AAF89177,AAF89178,AAF89179,AAN46091,CAI14529,CAI14530,CAI14531,EAX09071,EAX09072,CAA50481,AAP97715,AAH31522,BAA03812,AAC37533,CAA49598,P28715,Q5JUS4,Q5JUS5,Q9HD60 Hs.258429 GDB:120515 COFS3|ERCM2|UVDR|XPG|XPGC protein-coding 1323005 ERCC6 excision repair cross-complementing rodent repair deficiency, complementation group 6 This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity. The protein appears to interact with several transcription and excision repair proteins, and may promote complex formation at repair sites. Mutations in this gene result in Cockayne syndrome type B. 1580863 12560492,16107709,8999876,16916636,16246722,7664335,9326587,9973627,10564257,11313499,18270339,18026184,17996703,17933579,17855454,17854076,17728339,17707230,17575242,17567611,17438655,17313739,17119055,16964243,16772382,16754848,16751180,16601682,16565220,16537713,16492920,16399771,15746040,15548521,15486090,15231748,15226310,15164054,14702039,12606941,12419226,12121485,12095617,12060667,11809892,10944529,10882116,10767341,10739753,10498399,10447254,10196384,9774388,9450932,9443879,9372911,9137418,8652557,8382798,7663514,2172786,1951442,1349298,1339317,16258177,16128801 2074 NM_000124,AC073366,AL138760,AY204752,CH471187,AB209504,AK094670,AK130100,BC127104,CR749388,L04791 NP_000115,CAH70291,AAO13487,EAW93094,EAW93097,BAD92741,AAI27105,CAH18238,AAA52397,Q03468,Q59FF6 Hs.654449 GDB:119882 ARMD5|CKN2|COFS|COFS1|CSB|RAD26 protein-coding 1606557 ERCC6L excision repair cross-complementing rodent repair deficiency, complementation group 6-like 17956945,17353931,17218258,15917148,15302935,14702039,12477932 54821 NM_017669,AL135749,CH471213,AK000112,AK056494,AK074719,AW015865,AY121802,BC008808,BC111486,BM454829,BU431499,CR620566,EU069463 NP_060139,EAW71813,EAW71814,BAA90952,BAC11160,AAM82750,AAH08808,AAI11487,ABU25227,Q2NKX8 Hs.47558 FLJ20105|MGC131695|PICH protein-coding 1601889 ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8 This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. 8999876,16916636,12732143,11782547,17297471,11313499,18270339,17996703,17242193,16751180,16344560,16246722,15744458,15489334,14702039,14661080,12477932,10944529,9250659,8876179,8596535,7664335 1161 NM_000082,NM_001007233,NM_001007234,AC022445,AC104113,AY213194,CH471123,AK056931,AK226129,AK290726,AL691658,BC009793,BT020021,CR536563,DA169067,U28413 NP_000073,NP_001007234,NP_001007235,AAO21128,EAW55003,EAW55004,EAW55005,BAF83415,AAH09793,AAV38824,CAG38800,AAA82605,Q13216 Hs.435237 GDB:451944 CKN1|CSA protein-coding 1352562 ERCM1 excision repair complementing defective repair in mouse cells 2076 GDB:119883 1350156 ERDA1 expanded repeat domain, CAG/CTG 1 9398837,9774773 9030 AB007820 GDB:9120557 730898 EREG epiregulin Epiregulin is a member of the epidermal growth factor family. Epiregulin can function as a ligand of EGFR (epidermal growth factor receptor), as well as a ligand of most members of the ERBB (v-erb-b2 oncogene homolog) family of tyrosine-kinase receptors. 1580863 10681561,9419975,14581411,9337852,9990076,12702554,12898511,18292222,17962208,17429393,16888076,15474502,15274392,14572630,12477932,9553109 2069 NM_001432,AC021180,CH471057,BC035806,BC136404,BC136405,CR541887,D30783 NP_001423,EAX05709,AAI36405,AAI36406,CAG46685,BAA22146,O14944 Hs.115263 GDB:9834161 ER protein-coding 1323738 ERF Ets2 repressor factor Members of the ETS family of transcription factors, such as ERF, regulate cell proliferation and differentiation. They share a highly conserved DNA-binding domain, the ETS domain, that recognizes the sequence GGAA/T (de Castro et al., 1997 [PubMed 9192842]). For further information on ETS transcription factors, see ETS1 (MIM 164720).[supplied by OMIM] 1580863 7588608,17699159,17525531,17081983,16964243,15489334,15057824,14729966,14678752,14611815,12533699,12477932,12062430,11748221,10330152,9192842,9136988 2077 NM_006494,AC006486,CH471126,U58535,BC022231,BM905776,DC299706,U15655,AB209271 NP_006485,AAD11987,EAW57116,EAW57117,EAW57118,AAH22231,AAA86686,P50548,Q59G38,BAD92508,ABM84494,ABM87816 Hs.655969 GDB:9862960 PE-2|PE2 protein-coding 1348469 ERG v-ets erythroblastosis virus E26 oncogene homolog (avian) 1580863 11791185,8502479,3476934,18195090,18065961,17922029,17654723,17646667,17632455,17584912,17390040,17143509,17032499,16954520,16820092,16575875,16381901,16303180,16275934,16140924,15988032,15922298,15489336,15302935,15068237,14693372,12554743,12477932,12449421,11472898,11278640,11076863,10949935,10830953,10574717,9681824,9334186,8510931,8290279,8187069,8076344,8040301,3299708,3274086 2078 NM_004449,NM_182918,AP001035,AP001036,AP001037,AP001038,AP001422,AP001423,AP001426,CH471079,M17254,AF015313,AY204740,AY204741,AY204742,BC040168,AY204743,BE245360,M21535,S68130,S72621 NP_004440,NP_891548,EAX09679,EAX09680,AAA52398,AAB65763,AAP41719,AAP41720,AAH40168,AAA35811,AAB29724,AAB31417,P11308,Q16031,CAL37450,ABZ91999 Hs.473819 GDB:119884 erg-3|p55 v-ets erythroblastosis virus e26 oncogene like (avian) protein-coding 1607015 ERGIC1 endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. 15308636,15489334,14702039,12477932,11230166,10931946,10574461 57222 BC012766,BC014490,CD365875,CR533474,CR601416,CR604244,DB443891,AL133060,AL136753,NM_001031711,NM_020462,AC008429,AC110011,CH471062,AB033007,AF267855,AK000752,AK026049,AK027085,AK097183 CAB66687,AAH12766,AAH14490,CAG38505,Q969X5,NP_001026881,NP_065195,EAW61422,EAW61423,BAA86495,AAG44724 Hs.509163 ERGIC-32|ERGIC32|FLJ39864|KIAA1181|MGC14345 protein-coding 1605678 ERGIC2 ERGIC and golgi 2 15308636,17980171,16989575,15489334,14702039,12932305,12477932,11445006,9373149,8889548,8125298 51290 AC009318,CH471094,CQ782452,AF183410,AF216751,AF302767,AK074520,AK222799,AL834128,BC000887,BC064522,BC107794,NM_016570,BF681475,BI547753,BU675240,CR615422,CR624277 NP_057654,EAW96592,EAW96593,EAW96594,CAF85738,AAG09679,AAF61208,AAK77355,BAC11037,BAD96519,CAD89902,AAH00887,AAI07795,Q6P2H6,Q86TD3,Q96RQ1,Q9HC06,ABZ92333 Hs.339453 CDA14|Erv41|MGC111152|PTX1|cd002 protein-coding 1317746 ERGIC3 ERGIC and golgi 3 1580863 15308636,17020792,16303743,15489334,14702039,12747765,12477932,11780052,10810093 51614 AL161963,BC009765,BC014014,BU528333,CA489637,CR591725,CR592617,CR599797,CR600670,CR602704,CR604308,CR607525,CR610449,CR612111,CR613283,CR614105,CR615343,CR622738,CR623909,EF206690,AK096484,NM_198398,NM_015966,AL121586,CH471077,AF077030,AF091085,AF116614,AF151812,AF308298,AK074550 AAH09765,AAH14014,ABM92879,O95330,Q5JWS0,Q5JWS1,Q5JWS3,Q9Y282,NP_938408,NP_057050,CAB89412,CAI42842,CAI42843,CAI42845,CAO03348,CAO03349,EAW76199,EAW76200,AAD27763,AAC72954,AAF71038,AAD34049,AAG48265,BAC11054 Hs.472558 GDB:11507799 C20orf47|CGI-54|Erv46|NY-BR-84|PRO0989|SDBCAG84|dJ477O4.2 serologically defined breast cancer antigen 84 protein-coding 1320463 ERH enhancer of rudimentary homolog (Drosophila) 17353931,9074495,8786099,18081865,17444515,16169070,15794639,15670829,15635413,15489334,12477932 2079 NM_004450,AL157996,CH471061,AK130850,BC014301,BC071709,BT006877,CR450298,CR542178,CR618598,D85758,U66871 NP_004441,EAW80989,EAW80990,AAH14301,AAH71709,AAP35523,CAG29294,CAG46975,BAA12865,AAC51172,P84090 Hs.509791 GDB:642261 DROER|FLJ27340 protein-coding 1602977 ERICH1 glutamate-rich 1 15489334,14702039,12477932 157697 NM_207332,AC090691,AC100797,CH471181,AF161437,AK055649,AK125470,AK290264,AL833324,BC016017,BC046243,BX647093,CR592212,CR613798,CR618989 NP_997215,EAW51465,EAW51466,EAW51467,AAF28997,BAC86171,BAF82953,AAH46243,Q6ZUP8,Q86X53 Hs.655310 HSPC319 protein-coding 1344396 ERLIN1 ER lipid raft associated 1 1580863 16835267,15489334,15342556,15164054,14702039,12477932,11118313,9373149,8125298 10613 NM_001100626,NM_006459,AL138921,CH471066,AF064093,AK056574,AK127017,AK222480,BC031791,BP280488,BQ101058,BU192550,CR607760,CR626509 NP_001094096,NP_006450,CAQ10515,CAQ10516,EAW49846,EAW49847,AAC26658,BAC86787,BAD96200,AAH31791,O75477,Q5W0I5,Q6ZT08,ABM85458,ABW03724 Hs.150087 C10orf69|Erlin-1|KE04|KEO4|RP11-316M21.1|SPFH1 spfh domain family, member 1 protein-coding 1350824 ERLIN2 ER lipid raft associated 2 16835267,17502376,15897872,15489334,15342556,14702039,12975309,12477932,11256614,10449903,8889548 11160 NM_007175,NM_001003791,NM_001003790,AB018790,AC138356,CH471080,AK057557,AK291394,AL442077,AY358108,AY358851,BC005950,BC035980,BC048308,BC050611,BC067765,BI560439,BP353279,BU608317,CR613804,CR616571,CR621478 NP_009106,NP_001003791,NP_001003790,BAA36845,EAW63365,EAW63366,BAF84083,CAC09443,AAQ88475,AAQ89210,AAH05950,AAH48308,AAH50611,AAH67765,O94905,Q0JU65,Q6UXU5 Hs.705490 C8orf2|Erlin-2|MGC87072|SPFH2 spfh domain family, member 2 protein-coding 1320643 ERMAP erythroblast membrane-associated protein (Scianna blood group) The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. 1580863 11549310,16710414,16371048,15783300,15660834,15489334,14702039,12477932,12393480,11783959,6459052,118583,15469845 114625 AK056138,AK125447,AY049028,BC031548,BC099703,BC099707,BC099712,BC099713,BX507568,BX537371,NM_001017922,NM_018538,AJ505027,AJ505028,AJ505029,AJ505030,AJ505031,AJ505032,AJ505033,AJ505034,AJ505035,AJ505036,AJ505044,AL512353,AY644424,CH471059,DQ090843,AF119899,AF311284,AF311285 AAL11456,AAH99703,AAH99707,AAH99712,AAH99713,Q96PL5,Q9P148,CAD97613,NP_001017922,NP_061008,CAD43739,CAD43740,CAD43741,CAH72715,CAH72716,AAT66409,EAX07130,EAX07131,EAX07132,EAX07133,AAY88736,AAF69653,AAL08411,AAL08412 Hs.439437 GDB:11505990 MGC118810|MGC118811|MGC118812|MGC118813|PRO2801|RD|SC erythroblast membrane-associated protein protein-coding 1318095 ERMN ermin, ERM-like protein 737633,1580863 16421295,16051705,12477932,10574461 737633 57471 NM_001009959,NM_020711,AC016732,CH471058,AA736604,AB033015,AI207881,AV727436,BC026345,BI598234,DQ334271 NP_001009959,NP_065762,AAY14889,EAX11448,BAA86503,AAH26345,ABC67251,Q8TAM6 Hs.443894 JN|KIAA1189|ermin protein-coding 1348332 ERMP1 endoplasmic reticulum metallopeptidase 1 17267443,15489334,15146197,14702039,12477932,11347906 79956 NM_024896,AL136980,AL365360,CH471071,AB058718,AK026962,AK093217,AK127218,AK172831,AL834191,AW295384,BC031630,CN390893 NP_079172,CAI95005,EAW58757,EAW58758,BAB47444,BAB15604,BAD18796,AAH31630,Q4VXA4,Q4VXJ7,Q6ZMD3,Q7Z2K6 Hs.591078 FXNA|KIAA1815|bA207C16.3 protein-coding 1605125 ERN1 endoplasmic reticulum to nucleus signaling 1 The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals. 17638880,17585877,17991856,16645094,16344560,16107700,15234121,15063770,14702039,12843613,12477932,12446770,12050113,11897784,11850408,11278723,11175748,10737800,10650002,10587643,9637683,12637535,18242182,18065414 2081 NM_001433,AC005803,AC025362,CH471109,AB209869,AF059198,AI791744,AI792619,AK055561,AK292403,AL698247,BC130405,BC130407,BF817483,BF846361,DB128514 NP_001424,EAW94213,EAW94214,BAD93106,AAC25991,BAB70956,BAF85092,AAI30406,AAI30408,O75460,Q59EE2,Q96DP7 Hs.133982,Hs.700027 GDB:9864268 FLJ30999|IRE1|IRE1P|MGC163277|MGC163279 protein-coding 1346348 ERN2 endoplasmic reticulum to nucleus signaling 2 11175748,18242182,16973740,14702039,10619423,9755171,8889548 10595 AC008870,AC012317,CH471145,AB047079,NM_033266,AK131280,BU608100,EF560720,EF560739 NP_150296,EAW55802,BAB21297,BAD18455,ABQ59030,ABQ59049,Q76MJ5,AAI56239,AAI57114 Hs.592041 IRE1b protein-coding 1317870 ERO1L ERO1-like (S. cerevisiae) 1580863 11707400,10671517,16677073,15592500,15489334,15475357,15161913,15136577,14517240,12975309,12752442,12477932,12403808,11847130,11707280,10970843,10818100 30001 NM_014584,AL133453,CH471078,AF081886,AF123887,AK292839,AY358463,BC008674,BC012941,CR596292,CR604913,CR614206,CR624423 NP_055399,EAW65646,EAW65647,AAF35260,AAF06104,BAF85528,AAQ88828,AAH08674,AAH12941,Q96HE7 Hs.592304 GDB:11505992 ERO1-alpha protein-coding 1344502 ERO1LB ERO1-like beta (S. cerevisiae) 10818100,16822866,16677073,16263699,16012172,15489334,15161913,12752442,12477932,11847130,11707400 56605 NM_019891,AL139162,AL450309,CH471098,AF252538,BC032823,BC044573 NP_063944,CAI23525,CAI23526,CAI14419,CAI14420,EAW70045,EAW70046,AAF97547,AAH32823,AAH44573,Q5T1H4,Q5T1H5,Q5TAE8,Q86YB8 Hs.558519 protein-coding 1605301 ERP27 endoplasmic reticulum protein 27 kDa ERP27 is a noncatalytic member of the protein disulfide isomerase (PDI; see MIM 608012) family of endoplasmic reticulum (ER) proteins (Alanen et al., 2006 [PubMed 16940051]).[supplied by OMIM] 16940051,16713569,15489334,14702039,12975309,12477932 121506 NM_152321,AC007655,CH471094,AK056677,AY358536,BC030218 NP_689534,EAW96335,BAB71251,AAQ88900,AAH30218,Q96DN0 Hs.162143 C12orf46|FLJ32115 protein-coding 735473 ERP29 endoplasmic reticulum protein 29 This gene encodes a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. 9738895,17881435,17296603,17081065,17073718,17012915,16713569,16677078,15489334,12643545,12477932,12362325,12039039,11897809,11271497,9492298,8313870,1286669 10961 NM_006817,NM_001034025,AC073575,CH471054,AA412124,BC101493,BC101495,BE794579,CR541667,CR594614,CR600542,CR602432,CR602804,CR603906,CR604444,CR610095,CR611287,CR612656,CR617687,CR617833,CR623789,CR625433,X94910 EAW97992,NP_006808,NP_001029197,EAW97990,EAW97991,AAI01494,AAI01496,CAG46468,CAA64397,P30040 Hs.75841 GDB:9958653 C12orf8|ERp28|ERp31|PDI-DB endoplasmic retuclum protein 29 protein-coding 1345502 ERPL1 endogenous retroviral pol gene-like sequence 1 (clone HLM2) 1580863 3701934,2408338,2037294 2082 M11348 AAA35813,Q14272 GDB:119114 HLM2 protein-coding 1342913 ERPL2 endogenous retroviral pol gene-like sequence 2 3701934 2083 NG_003026,AC112175 GDB:119885 HLM-25 pseudo 1604617 ERRFI1 ERBB receptor feedback inhibitor 1 ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM] 10749885,18077449,18046415,17599051,17351343,16819504,16710414,16007071,15856022,15696545,15556944,15489334,14702039,12833145,12477932,12387890,12384522,12226756,11843178,11003669,7641805,2780291,15778465 54206 NM_018948,AL034417,CH471130,AJ276373,AK027830,AK096149,AL137274,BC012839,BC025337 NP_061821,CAB52551,EAW71592,EAW71593,EAW71594,CAC20426,CAB70672,AAH25337,Q9UJM3,ABM83063,ABM86257 Hs.605445 GENE-33|MIG-6|MIG6|RALT protein-coding 1343527 ERV1 endogenous retroviral sequence 1 6843662,6181510,3568764 2085 K02919 GDB:119115 protein-coding 1345054 ERV3 endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9) The human genome includes many retroelements including the human endogenous retroviruses (HERVs). ERV3, one of the most studied HERVs, is thought to have integrated 30 to 40 million years ago and is present in higher primates with the exception of gorillas. Taken together, the observation of genome conservation, the detection of transcript expression, and the presence of conserved ORFs is circumstantial evidence for a functional role. A functional role is also suggested by the observation that downregulation of ERV3 is reported in choriocarcinoma. 15994821,15081124,14557543,12970426,12853948,12083821,10894926,10692254,10427470,9525678,9458354,9209324,9209323,8592062,7716822,7645262,6505687,6495650,3840930,3356751,3346101,2884330,2115127,1783368 2086 NM_001007253,NG_006928,K02271,M12140,AC073210 NP_001007254,AAA88027,Q14264 Hs.250693 GDB:119116 ERV-R|H-PLK|HERV-R protein-coding 1349195 ERVE1 endogenous retroviral sequence E, 1 11721880,11401426 85314 AB047241,AB047242 GDB:11508681 HERV-E1|HERVE1 protein-coding 1346512 ERVK2 endogenous retroviral sequence K(C4), 2 1580863 8281148 2087 O15309 X74612 GDB:9806354 1349231 ERVK3 endogenous retroviral sequence K(C4), 3 8281148 2088 X74613 GDB:9806358 1344265 ERVK4 endogenous retroviral sequence K (G1), 4 60359 AB047209 GDB:11508632 1348397 ERVK5 endogenous retroviral sequence K (G2), 5 60358 GDB:11508633 1352633 ERVK6 endogenous retroviral sequence K, 6 10080172 64006 NM_001007236,AF074086 GDB:11505994 1348523 ERVK7 endogenous retroviral sequence K, 7 (type 2) 10469592,11401426 449619 1346740 ERVWE1 endogenous retroviral family W, env(C7), member 1 (syncytin) Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The product of this gene, syncytin, is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. 15507602,15452578,15269105,15254254,15109395,15033302,14757826,14613893,14557543,14520239,12970426,12853948,12757936,12724415,12664292,12620933,12397062,12175968,12050356,11990458,11854637,11531410,11375061,11238877,10826480,10693809,18077339,17762178,17453631,17209768,16871371,16820059,16760410,16176588,16004993,15888734,15827173,10737800,10708449,10580403,9882319,9835022,12676986 30816 NG_004112,AB051004,AC007566,AF156963,AF520478,AF520480,AF520482,AF520484,AF520486,AF520488,AF520490,AF520492,AF520494,AF520496,NM_014590,AF520498,AF520500,AF520502,AF520504,AF520506,AF520508,AF520510,AF520512,AF520514,AF520516,AF520518,AF520520,AF520522,AF520524,AF520526,AF520528,AF520530,AF520532,AF520534,AF520536,AF520538,AF520540,AF520542,AF520544,AY050300,AY050301,AY101582,AY101583,AY101584,AY101585,CH236949,AF072503,AF072505,AF072506,AF072507,AF072508,AF208161,AF506835,AF513360,BG012022,AF520546,AF520548,AF520550,AF520552,AF520554,AF520556,AF520558,AF520560,AF520562,AF520564,AY050299,BX365066,BX391741 NP_055405,BAB47558,AAF74215,AAQ17561,AAQ17562,AAQ17563,AAQ17564,AAQ17565,AAQ17566,AAQ17567,AAQ17568,AAQ17569,AAQ17570,AAQ17572,AAQ17573,AAQ17574,AAQ17575,AAQ17576,AAQ17577,AAQ17578,AAQ17579,AAQ17580,AAQ17581,AAQ17582,AAQ17583,AAQ17584,AAQ17585,AAQ17586,AAQ17587,AAQ17588,AAQ17589,AAQ17590,AAQ17591,AAQ17592,AAQ17593,AAL11494,AAL11495,AAM68161,AAM68162,AAM68163,AAM68164,AAD14545,AAD14546,AAD14547,AAD14548,AAF28334,AAM33413,AAM47599,AAL11493,AAQ17594,AAQ17595,AAQ17596,AAQ17597,AAQ17598,AAQ17599,AAQ17600,AAQ17601,AAQ17602,AAQ17603,AAQ17604,AAQ17571,Q96L59,Q96L60,Q96L61,Q96TB5,Q9UQF0,Q9UQF1 GDB:10796924 Env-W|HERV-7q|HERV-W|HERV-W-ENV|HERVW|env|syncytin protein-coding 1343709 ERVWE2 endogenous retroviral family W, env(C7), member 2 139302 NG_006128,AL354685 pseudo 1354332 ESA4 esterase A4 2090 GDB:119117 1348841 ESAM endothelial cell adhesion molecule 1580863 16344560,16303743,15489334,15340161,14702039,12975309,12477932,11906820,11847224,11279107 90952 NM_138961,AP000866,CH471065,CS051197,AF277292,AF361746,AK075396,AK091023,AK092429,AY189281,AY358382,BC016868,CR592626,CR592657,CR592972,CR597155,CR601846,CR603044,CR603971,CR604594,CR607273,CR609830,CR610927,CR615231,CR615986,CR618801,CR618946,CR623962,CR624894,CR625856,DA257581 NP_620411,EAW67598,CAI72094,AAF97236,AAK51065,BAC11594,AAO86725,AAQ88748,AAH16868,Q6Y2L1,Q96AP7,Q9NQU3,ABM82694,ABM85878 Hs.173840 W117m 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1344495 ESAT esterase activator 4508320 2096 GDB:119118 1342621 ESB3 esterase B3 2097 GDB:119119 1353486 ESCO1 establishment of cohesion 1 homolog 1 (S. cerevisiae) ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM] 15958495,15489334,14702039,14576321,12477932,11572484 114799 NM_052911,AC011774,CH471088,AB067498,AK090579,AK096746,AL832041,AL834200,BC036943,BC089426,BG492713,BK001617 NP_443143,EAX01127,EAX01128,EAX01129,BAB67804,BAC03483,CAH10584,CAH10682,AAH36943,AAH89426,DAA02068,Q5FWF5 Hs.464733 A930014I12Rik|EFO1|ESO1|KIAA1911|MGC105022 protein-coding 1350541 ESCO2 establishment of cohesion 1 homolog 2 (S. cerevisiae) This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. 17081983,16775838,16380922,15958495,15821733,12477932,495649 157570 NM_001017420,AC104997,CH471080,AF306675,AF306676,AF306677,AF306678,AF306679,AK124215,AL832666,AY882862,BC017933,BC034641,BC040615 NP_001017420,EAW63538,AAX68677,AAH34641,Q49AP4,Q56NI9,AAI41419,AAI46563 Hs.99480 2410004I17Rik|EFO2|RBS protein-coding 1354034 ESD esterase D/formylglutathione hydrolase 1580863 3164702,15489334,15057823,14702039,12942785,12721789,12477932,11963573,11785295,11436564,10931946,7907313,3770744,3591015,3462728,3462714,3462698,1886375 2098 NM_001984,AF052509,AL136958,CH471075,AF112219,AK093643,AK098540,BC001169,BT007059,CR592358,CR600803,CR600886,CR609153,CR619552,M13450 NP_001975,AAC06298,CAI12225,CAI12226,CAI12228,EAX08767,EAX08768,EAX08769,AAC99788,AAH01169,AAP35708,AAA52408,P10768 Hs.432491 GDB:119886 1643520 BW259_H protein-coding 1314468 ESF1 ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 17081983,16565220,15660422,15635413,15489334,15302935,14702039,12477932,11780052,12463424 51575 NM_016649,AL161659,CH471133,AF068285,AK000375,AK022369,AK022670,AK074299,BC020952,BC030513,BC039706,BC046107,BC062214,BC104663 NP_057733,CAC07199,EAX10313,AAF65504,BAA91123,BAB14023,BAB14167,AAH20952,AAH30513,AAH39706,AAH46107,AAH62214,AAI04664,Q05C10,Q3SWV1,Q6P6H6,Q8IWH6,Q9H501,AAI40352,AAI46543 Hs.369284 GDB:11505003 ABTAP|C20orf6|FLJ20368|HDCMC28P|bA526K24.1 chromosome 20 open reading frame 6 protein-coding 737594 ESM1 endothelial cell-specific molecule 1 This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. 1580863 8702785,17362927,16899604,16764824,15489334,12778364,12477932,12011586,11866539,11544294,11025405,16189514 11082 NM_007036,AC010436,AC034238,AJ401091,AJ401092,CH471123,AJ973643,BC011989,BM423977,X89426 NP_008967,CAB94771,EAW54896,EAW54897,CAJ13737,AAH11989,CAA61597,Q3V4E3,Q9NQ30 Hs.129944 GDB:9956441 endocan protein-coding 1314788 ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae) 1580863 12672959,12194817,11875078,11509732,17974570,17604273,17102637,16258266,16177575,15880121,15342556,15302935,12477932,12297314,11747808,10411507,8724849,15989971 9700 BG328178,BP244662,D79987,NM_012291,AC021072,AC073611,CH471054,AI458447,AK128350,AW009863,AY455930,BC047603 BAA11482,Q14674,NP_036423,EAW96681,EAW96682,AAR18247 Hs.153479 GDB:9784990 ESP1|FLJ46492|KIAA0165|SEPARASE|SEPARIN extra spindle poles like 1 (s. cerevisiae) protein-coding 731924 ESPN espin 734943 16569662,15930085,15286153,11230166,10975527,8889548,8799813 734943 83715 NM_031475,AL031848,AL158217,CH471130,AF134401,AL136880,AL834172,AY203958,BM713713 NP_113663,CAI19772,CAI22151,CAI22163,EAW71535,EAW71536,EAW71537,EAW71538,AAD24480,CAB66814,CAD38870,AAP34481,Q5JYL1,Q5T8W7,Q5T8X9,Q8ND66,AAI56376 Hs.147953 GDB:11504501 DFNB36|DKFZP434A196|DKFZp434G2126|LP2654 protein-coding 1602816 ESPNL espin-like 12975309,12477932 339768 NM_194312,AC016757,CH471063,AK124559,AK124612,AK128187,AY358157,BC042051,BC080639 NP_919288,EAW71140,BAC85884,BAC85900,AAQ88524,AAH42051,AAH80639,Q6UXY7,Q6ZVH7 Hs.127724 FLJ42568|MGC99829 protein-coding 1606919 ESPNP espin pseudogene 15286153 284729 NG_007649,AL021920,AL035288 CAA22892,O95559 Hs.548239 RP1-163M9.1|dJ1182A14.1 pseudo 736559 ESR1 estrogen receptor 1 This gene encodes an estrogen receptor, a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The protein localizes to the nucleus where it may form a homodimer or a heterodimer with estrogen receptor 2. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Estrogen receptors are also involved in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in several transcript variants, which differ in their 5' UTRs and use different promoters. 1580335,1580337,1580338,1331525,1358612,1601096,1580863,1626508,2290017,2290041,2290020,2290022,2290023,2290024,2290043,2290042,2290019 3753802,12389206,12917342,10749889,10970861,12351687,11960618,18483761,18452179,18450649,18449864,18445777,18445666,18424506,18424448,18421025,18408366,18390216,18385916,18375409,18372406,18367190,18360040,18359774,18358812,18350156,18350145,17510501,17507630,17507624,17505773,17493601,17478088,17473282,17463000,17454161,17453687,17453340,17452407,17446729,17443129,17419075,17417639,17415682,17413977,17410321,17409042,17408018,17405848,17405842,17392432,17391927,17391528,17389465,17388661,17378156,17372038,17365134,17356055,17350824,17350773,17350616,17349986,17347654,17332369,17327435,17325140,17324916,17317669,17316413,17312270,17309937,17299137,17287066,17283037,17275994,17268813,17264952,17252199,17241382,17224934,17220347,17203178,17192785,17187234,17186378,17185393,17184825,17176215,17160687,17143016,17135255,17130235,17127213,17121748,17118173,17116097,17109894,17105837,17099213,17097034,17095210,17089081,17046193,17043237,17023856,17021946,17016614,17011556,17010478,17008385,17008324,17006756,16988190,16977255,16972020,16968748,16957778,16954434,16949392,16949390,16949387,16949384,16939403,16935316,16914837,16912174,16901007,16886637,16880783,16873715,16873370,16860797,16859128,16855153,16846491,16816928,16809442,16809346,16808847,16799708,16796589,16793950,16791593,16791482,16788818,16782818,16769725,16766435,16762623,16762402,16762184,16758971,16757575,16756716,16754886,16144952,16139450,16138832,16133690,16123086,16119004,16118406,16117875,16099331,16098857,16098017,16091743,16087863,16087727,16086289,16076840,16061840,16055089,16051668,16046054,16042580,16037132,16014638,16009131,16005459,15999471,15966503,15965230,15964799,15964790,15961505,15961417,15960894,15947004,15940291,15940264,15934440,15923424,15919818,15899960,15886208,15878968,15870697,15870696,15862952,15862951,15862818,15856463,15842934,15837795,15831512,15827868,15824731,15817658,15807179,15802376,15802375,15800680,15798095,15784714,15781005,15772083,15763593,15755860,15749482,15746193,15744038,15734595,15723135,15713534,15709176,15705965,15698546,15694360,15693887,15692074,15674350,15668497,15661863,15657064,15654614,15654505,15651230,15647972,15645536,15642950,15642162,15641807,15637147,15625066,15616899,15615701,15613410,15609101,15609040,15607534,15604249,15595626,15592589,15591788,15581976,18342444,18316616,18316615,18310301,18309176,18305958,18301357,18294052,18288931,18285546,18271972,18252198,18243128,18229450,18202578,18197009,18195227,18189290,18184269,18178192,18174157,18165403,18165171,18165170,18164902,18162533,18157729,18097104,18096994,18089911,18089703,18070128,18062975,18053221,18048499,18042273,18037997,18037365,18025262,18006911,17991426,17975005,17971628,17962916,17960587,17953702,17951536,17948189,17939379,17924141,17921385,17916182,17914104,17911387,17909265,17908967,17904846,17903300,17896124,17895504,17891599,17889406,17885486,17884941,17854418,17852416,17825481,17761946,17728669,17717078,17713466,17706611,17706202,17704057,17686882,17666587,17666584,17656679,17652530,17646279,17646097,17634528,17631492,17630774,17617929,17616709,17615152,17609999,17609434,17609204,17599809,17599361,17599055,17598904,17594514,17591841,17591692,17590503,17589376,17564514,17562079,17558892,17556378,17553133,17545528,17540666,17531923,17520659,17513703,17512111,17511620,16753154,16735942,16723714,16720731,16713399,16699281,16691199,16690750,16684779,16679312,16675850,16675542,16648749,16648639,16647340,16645043,16645038,16638864,16636675,16633737,16628468,16622736,16612467,16612068,16608856,16606610,16604479,16601072,16595228,16574784,16555127,16553027,16551651,16549430,16541319,16538187,16537702,16524927,16524385,16522905,16522460,16504171,16502042,16500359,16497729,16492926,16492615,16489075,16484614,16483936,16478760,16477637,16477374,16469747,16455819,16453284,16430179,16427018,16417649,16417078,16406987,16396937,16388018,16365013,16362385,16361951,16344560,16332659,16326832,16324147,16322330,16322326,16317584,16293641,16292600,16286534,16284392,16280269,16280033,16273733,16271083,16269961,16260521,16244490,16243557,16242874,16238543,16226051,16219765,16216908,16216907,16215870,16213843,16210384,16210018,16203927,16202920,16199553,16179580,16179380,16176503,16169423,16168121,16168103,16160748,16159931,16154319,16153823,16151677,16150902,14761887,14742696,14739282,14736707,14725686,14722073,14715875,14715865,14710360,14691461,14688157,14680815,14675539,14674143,14670179,14634838,14617632,14600184,14574404,14568562,14563649,14562991,14559803,14528452,14528100,14522892,14520218,14519529,14508827,14506618,14505233,14504194,14503979,14499686,13678390,12970748,12969589,12962933,12961063,12954762,12943696,12927786,12917706,12917323,15579774,15579769,15576061,15569929,15569417,15556606,15552843,15545229,15541640,15539439,15536156,15532726,15528307,15525597,15525592,15523071,15521089,15517129,15514030,15496458,15496419,15476574,15474761,15474102,15471764,15467744,15461668,15389627,15381239,15380041,15375600,15368436,15368362,15361380,15358197,15354856,15351741,15351732,15345745,15330195,15324358,15318176,15314175,15304487,15289619,15282324,15272917,15263903,15261302,15258723,15254972,15254780,15231873,15229223,15217907,15217512,15213208,15211069,15208259,15205361,15193490,15173068,15171727,15171723,15169784,15167447,15167446,15161711,15145521,15133719,15120696,15108352,15103224,15084345,15084241,15082146,15078875,15070964,15070958,15070949,15066997,15066214,15060164,15059947,15056731,15047147,15041725,15034868,15033914,15033483,15026080,15001646,14999525,14985328,14981916,14973390,14973389,14972425,14960313,14767512,14764897,14764789,14762440,12915669,12914574,12899921,12895309,12895004,12894229,12891629,12889606,12879219,12878603,12874288,12873984,12873981,12861133,12856811,12855746,12853125,12852830,12847685,12842887,12839940,12837697,12824724,12821935,12145209,12138194,12138116,12119550,12119130,12118371,12115520,12113882,12112198,12112006,12111450,12110951,12100115,12098649,12096841,12093804,12093745,12088878,12088871,12088102,12059984,12040178,12039952,12034840,12031042,12021200,12014437,12011094,12006396,11997270,11992565,11986316,11984699,11981030,11971975,11971969,11959119,11959092,11955468,11953755,11938861,11937504,11931763,11925413,11923465,11922631,11919305,11918216,11914066,11911945,11903314,11894143,11887937,11887032,11886765,11875103,11867270,11867202,11861507,11857578,11854298,11846326,11844790,11839580,11838047,11836633,11826769,11823467,11818702,12145334,11818499,11803451,11798902,11782371,12817755,12815477,12810552,12781038,12775708,12774124,12770739,12757654,12750288,12740031,12736255,12733715,12727990,12727987,12718576,12712467,12711000,12710997,12691862,12687010,12682286,12667452,12650698,12646062,12642782,12627470,12612073,12612060,12605096,12597128,12594813,12594000,12588759,12576490,12576474,12574216,12568733,12566932,12566449,12556917,12554660,12553013,12552233,12547836,12547192,12527756,12524070,12515753,12511607,12509901,12496244,12482985,12482846,12477932,12477541,12475719,12475718,12466266,12457453,12453411,12446585,12438984,12429765,12415108,12412813,12403846,12400015,12398989,12381474,12374744,12351689,12270131,12242035,12231116,12207901,12207170,12206920,12200415,12198596,12195069,12193552,12185415,12183765,12174912,12174171,12169981,12167865,12160997,12154211,12147702,12145336,11779858,11774719,11773443,11773441,11773069,11765043,11720251,11716992,11710886,11704680,11689696,11689445,11595744,11595700,11564035,11563984,11555647,11525424,11507039,11481323,11477071,11458983,11458981,11437591,11436125,11435445,11432835,11397855,11383910,9628876,9627117,9619507,9600906,9528769,9473491,9448000,9427757,9393949,9338790,9195227,9171231,9115274,9099865,9039267,8961262,8647321,8600466,8600444,8524784,8406468,8308015,8240974,8221895,8090165,11355046,11316004,11266503,11239543,11231990,11165056,11149476,11140838,11139588,11139535,11127213,11121195,11113208,11092404,11092403,11050174,11043578,11013076,11004670,10949034,10908561,10872826,10866662,10829018,10816575,10766163,10748020,10737800,10713182,10707955,10706618,10706293,10620335,10619354,10598587,10567404,10454579,10428798,10359819,10334989,10207098,10085091,9875847,9773978,9702189,9653119,9632676,9628887,11574675,15666801,7923369,15474036,11923430,15808510,15304355,10706629,15308690,14761960,15383283,12738788,15345050,15694343,9774463,15019994,10490106,14506733,12639951,10938099,15060629,9346901,7916651,7838153,7651415,7641693,7539106,7476978,3754034,3145193,2792078,2247153,2040605,2015052,1603086,1577818,1567414,1476547,15899520,11564893,11032808,11003650,11358960,9222609,11050077,12479814,11113179,11493692,11244506,11146623,12660241,12943695,12837248,12612084,14521715,15342491,15205473,10409727,11158331,11696545,9892017,10480874,12466272,12039962,11279242 1580335,1580337,1580338,1331525,1358612,1601096,1626508,2290017,2290041,2290020,2290022,2290023,2290024,2290043,2290042,2290019 2099 NM_000125,NM_001122740,NM_001122741,NM_001122742,AF123500,AF326912,AL049821,AL078582,AL356311,AL590993,AY425004,CH471051,X62462,AF120105,AF258449,AF258450,AF258451,AK293019,AY750962,BC128573,BC128574,BE084831,BX640939,DA329077,DB285906,M12674,M69297,U47678,U68067,U68068,X03635,X73067,X74439,Z75126 NP_000116,NP_001116212,NP_001116213,NP_001116214,AAD52984,AAG42501,CAI22123,CAI42285,CAI21011,CAI21012,AAQ91815,EAW47740,EAW47741,CAA44322,AAD23565,AAG41358,AAG41359,AAG41360,BAF85708,AAW69860,AAI28574,AAI28575,CAE45969,AAA52399,AAA58462,AAB00115,AAC51874,AAC51875,CAA27284,CAA51528,CAA99436,P03372,Q14267,Q14268,Q5C8S5,Q5TFI3,Q6MZQ9,Q9H1Z6,Q9H2M1,Q9H2M2,Q9UBT1,Q9UE35,Q9Y2W8 Hs.208124 GDB:119120 DKFZp686N23123|ER|ESR|ESRA|Era|NR3A1 1643367,1643404,1643502,2289445 BW323_H,BMD3_H,BW265_H,BW415_H protein-coding 69213 ESR2 estrogen receptor 2 (ER beta) This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. 1581011,1581012,1581013,1581014,1581015,1581016,1581017,1580704,734949,734951,734950,1582269,1580863,735008,1626507,735007,1626508,1626506,2290017,2290023,2290024 17512111,17507630,17507624,17503469,17478088,17474167,17456575,17443129,17428314,17415682,17405842,17365134,17350752,17336962,17333268,17332369,17287066,17241382,17203178,17184825,17160687,17135255,17132221,17110088,17083364,17065579,17062671,17046193,17011556,16951146,16949392,16949390,16949384,16939403,16938840,16921512,16880783,16873370,16859590,16855153,16846491,16809442,16808847,16793950,16791593,16777502,16766435,16760287,16735942,16723304,16720731,16700038,16691199,16648749,16648639,16645038,16633737,16622736,16608893,16604479,16554735,16553027,16551880,16549430,16522905,16500359,16365013,16332659,16317584,16293641,16292491,16280269,16269961,11181953,12039952,9671811,8769313,10749889,15024130,18487282,18483761,18445666,18421025,18375409,18317771,18305346,18304720,18288931,18268123,18195227,18165403,18164902,18157729,18070128,18053221,18048499,18039858,18007998,18006911,17964137,17951536,17941906,17935138,17932344,17924141,17904846,17895504,17889406,17884941,17713466,17706202,17704057,17702854,17680534,17646097,17640362,17638897,17634528,17625110,17617929,17609204,17604135,17599809,17597290,17585029,17579196,17540666,17537412,17945165,17520659,16261413,12456792,12415108,12414901,12242035,12207170,12200415,12168823,12151079,12145209,12137804,12119550,12112024,12111450,12095943,12073050,12021200,12021179,11992621,11986316,11981030,11971969,11959119,11953755,11923465,11918216,11887032,11875103,11867769,11826769,11803451,11781694,11775002,11773444,11773069,11739747,11720251,11704680,11682624,11596023,11579095,11555647,11530282,11397855,11389589,11344243,11279242,11266503,11231990,11180758,11117529,11113208,11053406,11013076,10964723,10908561,10809226,10770204,10720062,10706629,10681591,10681512,10681503,10667568,10648597,10601611,10598587,10579320,10554010,10352100,9892018,9773978,9685228,9636657,9506768,9501254,9473491,9443393,9398750,9329394,9325313,9267036,8221895,8197458,15899520,11032808,11158331,16189514,12738788,14634838,14633679,14576822,14555521,14528452,14519529,14500565,12969589,12947046,12904255,12899921,12895004,12894229,12873984,12865336,12861133,12846425,12839940,12815477,12774124,12740031,12727987,12710997,12710996,12702147,12691862,12682916,12650698,12597128,12566449,12554752,12554660,12552233,12547836,12547192,12519886,12497580,12477932,12477486,12477483,12475719,12466272,15694360,15692074,15662019,15661863,15656884,15635591,15615701,15613410,15609040,15607534,15604249,15592589,15569979,15545229,15544935,15541640,15536519,15536156,15525597,15525276,15517897,15496419,15492781,15489334,15389627,15383631,15381922,15374639,15368362,15355905,15354857,15345745,15330195,15314175,15291741,15280642,15272917,15258723,15254780,15231873,15219649,15217907,15208676,15208259,15198955,15193490,15181079,15171727,15171712,15170658,15167447,15167446,15161636,15155785,15147889,15146197,15108352,15082146,15073120,15070964,15070949,15068501,15060164,15047147,15033914,15026080,15001646,14973391,14761887,14759258,14745018,14742696,14739282,14736707,14729654,14716825,14715875,14710360,14699439,14691461,14676828,14674142,16230778,16226111,16216906,16213843,16210384,16210018,16153823,16125346,16123086,16118406,16118344,16115604,16099331,16098017,16083630,16061639,16046054,15998774,15976006,15947116,15944651,15941852,15894829,15862952,15862951,15862947,15862945,15821116,15802376,15784714,15784253,15781005,15780944,15723135,15698546 1581011,1581012,1581013,1581014,1581015,1581016,1581017,1580704,734949,734951,734950,1582269,735008,1626507,735007,1626508,1626506,2290017,2290023,2290024 2100 NM_001040276,NM_001040275,NM_001437,AF014796,AF191544,AF215937,AL161756,AL355094,AY640407,AY785359,CH471061,AB006589,AB006590,AB209620,AF051427,AF051428,AF060555,AF061054,AF061055,AF074598,AF074599,AF124790,AK292370,AY438022,BC006461,BC024181,BX247957,CN366005,DQ777076,DQ777077,DQ838582,DQ838583,X99101,AF047463 NP_001035366,NP_001035365,NP_001428,AAG29940,AAV31779,EAW80845,EAW80846,EAW80847,EAW80848,EAW80849,EAW80850,EAW80851,EAW80852,EAW80853,EAW80854,BAA31966,BAA24953,AAC03786,AAC05985,AAC05751,AAC15234,AAC39784,AAC39785,AAC25602,AAC25603,AAD32580,BAF85059,AAH24181,CAD62297,ABG88022,ABH09189,ABH09190,CAA67555,Q0MWT5,Q0MWT6,Q0PTK2,Q59F41,Q7LCB3,Q86U33,Q92731,BAD92857 Hs.525392,Hs.660607 GDB:4548088 ER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2 protein-coding 730826 ESRRA estrogen-related receptor alpha The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin, medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of ESRRA is located on chromosome 13q12.1. 1625636,1625637,1580863 16260778,9286700,18331830,18174157,17631492,17556356,17509876,17418099,17418098,17294452,17053040,16755280,16681769,16150865,15883633,15821111,15598686,15337744,15318176,15302935,15231747,15231680,14978033,14610283,12579315,12560563,12522104,12477932,12397057,11986328,11984006,11574675,11437591,11165056,9824153,9344655,9271417,9058380,8621448,8224847,3267207 1625636,1625637 2101 NM_004451,AP001453,CH471076,DQ514553,BC007915,BC011528,BC033701,BC063795,BC073956,BC092470,BC093720,BC093722,CR624219,L38487,X51416 Q6P3W9,Q8N4S8,Q96F89,Q96I02,ABZ92000,NP_004442,EAW74246,EAW74250,ABF47104,AAH07915,AAH11528,AAH33701,AAH63795,AAH73956,AAH92470,AAH93720,AAH93722,AAB17015,CAA35778,P11474,Q569H8,Q6GMQ8 Hs.110849 GDB:6054073 ERR1|ERRa|ERRalpha|ESRL1|NR3B1 estrogen related receptor, alpha protein-coding 1345028 ESRRAP1 estrogen-related receptor alpha pseudogene 1 18065488,9344655,3267207 144847 NG_001009,AL359457 GDB:9177468 ESRRAP|bA76K19.2 pseudo 1626576 ESRRAP2 estrogen-related receptor alpha pseudogene 2 18065488,9344655,3267207 144832 NR_000033,NG_007350,AL158032,U85258 ESTRRA pseudo 1342767 ESRRB estrogen-related receptor beta This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. 1580863 18179891,17920186,16332939,15598686,12654265,12529709,12508121,12477932,10598588,10072763,9398750,9344655,3267207 2103 NM_004452,AC008050,AC016543,CH471061,AY451389,AY451390,BC131517,X51417 NP_004443,AAG17472,AAG29619,EAW81258,AAS15571,AAS15572,AAI31518,CAA35779,O95718,Q5F0P7,Q5F0P8,Q9HCB2,AAI48478 Hs.435845 GDB:6054074 DFNB35|ERR2|ERRb|ERRbeta|ERRbeta-2|ESRL2|NR3B2 protein-coding 1349366 ESRRG estrogen-related receptor gamma 10428842,18005256,17846126,17761695,17706602,16990259,16710414,16681769,15821111,15598686,15489334,14702039,14651967,12715898,12477932,12470660,12180985,12107410,11864604,10707956,10072763,10048485,9676434,8889548 2104 NM_206594,NM_001438,AC096634,AC096635,AL445650,AL512626,AL512650,AL513312,AL603752,AY528719,CH471100,AB020639,AF058291,AF094518,AF117255,AK001811,AK131193,AK290945,NM_206595,AK291028,AK291647,AY388456,AY388457,AY388458,AY388459,AY388460,AY388461,BC008218,BC064700,BM723962,BU752915,BX647076,BX649009,CA397450,CF594270,CR749497 NP_996317,NP_001429,AAS00098,EAW93335,BAA74855,AAC39899,AAC99410,AAD48370,NP_996318,BAF83634,BAF83717,BAF84336,AAQ93376,AAQ93377,AAQ93378,AAQ93379,AAQ93380,AAQ93381,AAH08218,AAH64700,CAH18320,P62508,ABZ92001 Hs.444225 GDB:9861425 DKFZp781L1617|ERR3|FLJ16023|KIAA0832|NR3B3 protein-coding 1605534 ESSPL epidermis-specific serine protease-like protein 12838346,12477932 345062 NM_183375,AC104819,CH471056,BC121109,BC121110,BN000134 NP_899231,EAX04985,AAI21110,AAI21111,CAD67963,Q7RTY5 Hs.651266 protein-coding 1350335 ESX1 ESX homeobox 1 1580863 17242862,16613891,15601583,15489334,15235584,14702039,12477932,11374906 80712 NM_153448,AL049631,CH471120,AK097704,AY114148,BC042633,BC053599 NP_703149,EAX02755,AAM62141,AAH42633,AAH53599,Q8N693 Hs.223782 GDB:11508381 ESX1L|ESXR1 extraembryonic, spermatogenesis, homeobox 1-like protein-coding 1604009 ETAA1 Ewing tumor-associated antigen 1 16003559,12477932 54465 NM_019002,AC023668,CH471053,AJ242682,AK025155,AK026300,AW978869,BC033075,BC040001 NP_061875,AAX93100,EAW99888,CAB76378,AAH33075,AAH40001,Q9NY74 Hs.353022 ETAA16|FLJ22647 protein-coding 1313906 ETF1 eukaryotic translation termination factor 1 Termination of protein biosynthesis and release of the nascent polypeptide chain are signaled by the presence of an in-frame stop codon at the aminoacyl site of the ribosome. The process of translation termination is universal and is mediated by protein release factors (RFs) and GTP. A class 1 RF recognizes the stop codon and promotes the hydrolysis of the ester bond linking the polypeptide chain with the peptidyl site tRNA, a reaction catalyzed at the peptidyl transferase center of the ribosome. Class 2 RFs, which are not codon specific and do not recognize codons, stimulate class 1 RF activity and confer GTP dependency upon the process. In prokaryotes, both class 1 RFs, RF1 and RF2, recognize UAA; however, UAG and UGA are decoded specifically by RF1 and RF2, respectively. In eukaryotes, eRF1, or ETF1, the functional counterpart of RF1 and RF2, functions as an omnipotent RF, decoding all 3 stop codons (Frolova et al., 1994 [PubMed 7990965]).[supplied by OMIM] 7990965,9620853,9712840,12867083,16797113,16452507,16282590,16189514,15716307,15635413,15489334,12909007,12665801,12477932,12426392,12356746,11790298,11779511,11358506,10773672,10702684,10676813,10413110,9928949,9003791,7759135,1546371,1537561 2107 NM_004730,AC011385,AC113403,AF095901,CH471062,AL553004,BC014269,BC088358,BT007374,CR599885,CR600366,CR606413,CR613596,CR622518,DC297662,M75715,U90176,X80916,X81625 NP_004721,AAD43966,EAW62130,EAW62131,EAW62132,EAW62133,EAW62134,AAH14269,AAH88358,AAP36038,AAA36665,AAB49726,CAA57281,P62495,Q96CG1,ABM81632,ABM84816 Hs.483494 GDB:136042 D5S1995|ERF|ERF1|MGC111066|RF1|SUP45L1|TB3-1 protein-coding 1351224 ETF1P1 eukaryotic translation termination factor 1 pseudogene 1 10727083,10413110,1546371 6824 NG_001028,AF055066,AL669914,AL671859,AL845439 GDB:132583 HCGVII|SUP45L2 pseudo 1345726 ETF1P2 eukaryotic translation termination factor 1 pseudogene 2 10413110,1546371 6825 NG_001198,AC005996,AF112357 GDB:136043 SUP45L3 pseudo 1343202 ETF1P3 eukaryotic translation termination factor 1 pseudogene 3 10413110,1546371 6826 AF110131 GDB:136044 SUP45L4 pseudo 1342675 ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. 1580863 8617498,3170610,17689999,17081983,16510302,16344560,15489334,12815589,12477932,11756429,10356313,8962055,3053288,1882842,1430199 2108 NG_007077,AC027243,AC091100,AF436657,AJ224002,CH471136,AK292979,BC015526,BC029995,BC034156,BC095457,BT009796,CR592726,CR593989,CR608419,CR626374,DA838974,J04058,NM_000126 NP_000117,AAN03712,CAA11802,EAW99221,EAW99222,BAF85668,AAH15526,AAH95457,AAP88798,AAA52406,P13804,Q53XN3 Hs.39925 GDB:119121 EMA|GA2|MADD protein-coding 1347524 ETFB electron-transfer-flavoprotein, beta polypeptide This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. 1580863 7912128,8504797,8617498,16510302,15975918,15498874,15489334,14702039,12815589,12477932,10356313,8962055,8188225,1677763 2109 NM_001985,NM_001014763,NG_007115,AC008750,AF436663,CH471135,X76067,AF370381,AK055285,AK128845,AK291881,AL833205,BC093961,BC093963,BG281641,BG399783,CR456827,CR613524,X71129 NP_001976,NP_001014763,AAN03713,EAW72004,CAB37832,AAQ15217,BAC87642,BAF84570,AAH93961,AAH93963,CAG33108,CAA50441,P38117,Q6ZQP2 Hs.654553 GDB:119887 FP585|MADD protein-coding 1354191 ETFDH electron-transferring-flavoprotein dehydrogenase Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia. 1580863 8306995,8617498,17584774,17412732,16344560,15489334,12815589,12477932,12359134,12049629 2110 AAB24227 NM_004453,NG_007078,AC107219,AF449444,CH471056,BC011890,BX538129,CR594853,CR595253,CR597977,DA319656,EU093082,EU093083,S69232 NP_004444,AAN03724,EAX04854,AAH11890,CAD98030,ABU55401,ABU55402,AAC60628,AAB24227,Q16134,Q547S8 Hs.155729 GDB:135992 ETFQO|MADD protein-coding 1322274 ETHE1 ethylmalonic encephalopathy 1 This gene encodes a protein that is expressed in the thyroid. 1580863 16929096,16381901,16183799,15489336,15489334,15057824,14732903,12477932,12398897,11256614,11076863,16189514 23474 NM_014297,AC018758,CH471126,AI879202,BC008250,D83198 NP_055112,AAG09063,EAW57195,EAW57196,EAW57197,AAH08250,BAA34595,O95571,Q0JUX8,CAL37682 Hs.7486 HSCO|YF13H12 protein-coding 1348511 ETM1 essential tremor 1 9288103 2111 GDB:9732523 1352412 ETM2 essential tremor 2 9399207 2112 GDB:7009905 1317846 ETNK1 ethanolamine kinase 1 This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 11044454,15489334,12477932,11912161 55500 NM_018638,NM_001039481,AC087241,CH471094,AB074182,AF207600,AK027113,AK074425,AL110180,AL117563,AL137750,BC006111,BC037324,BC045794,BC066907,BT007084,CR749601 NP_061108,NP_001034570,EAW96478,EAW96479,EAW96480,BAE45742,AAF71220,CAH56371,AAH06111,AAH66907,AAP35747,Q659C5,Q86U68,Q9HBU6 Hs.29464 EKI|EKI1|Nbla10396 protein-coding 1313254 ETNK2 ethanolamine kinase 2 The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. 737633,1580863 16861741,16189514,15161093,14702039,12477932,11044454 737633 55224 NM_018208,AL592146,CH471067,AB073608,AK001623,BC010082,DB454429 NP_060678,CAI16598,CAI16599,CAI16600,CAI16601,CAI16602,CAI16603,EAW91501,EAW91502,EAW91503,EAW91504,BAD38645,BAA91793,AAH10082,Q5SXX4,Q5SXX5,Q5SXX8,Q5SXX9,Q68CK3,Q96G05,Q9NVF9 Hs.497469 EKI2|FLJ10761|HMFT1716|RP11-74C13.2 protein-coding 737031 ETS1 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) ETS transcriptions factors, such as ETS1, regulate numerous genes and are involved in stem cell development, cell senescence and death, and tumorigenesis. The conserved ETS domain within these proteins is a winged helix-turn-helix DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T of target genes (Dwyer et al., 2007 [PubMed 17986575]).[supplied by OMIM] 1580863 10698492,2187191,8620536,18172009,18020712,17986575,17977828,17845581,17721441,17671502,17661355,17656364,17456046,17397260,17321669,17287278,17213822,17105191,16894529,16887814,16829517,16786167,16722933,16684505,16586544,16569638,16294212,16278291,16263717,16234432,16192649,16045329,15996661,15940256,15848191,15788656,15699632,15693893,15592518,15592455,11909962,11836635,11830328,11590145,11279115,10942770,10918595,10815800,10377039,10212281,10022910,9794229,9566892,9528793,9501572,9334186,9333025,9094628,9032233,8557686,8521493,8231246,7753825,3285299,3060801,2997781,2847145,2612216,1614856,1592264,1522903,16189514,15578430,15574387,15572696,15563472,15531915,15469934,15389378,15302318,15247905,15199062,15173033,15123671,15001984,14734780,14704859,14702039,14586398,14557674,12967474,12949792,12932931,12920221,12850290,12843180,12743594,12632078,12632071,12477932,12475968,12466970,12464608,12377649,12377648,12221090,12073053,12048211,12034715,11971908,11970950,11948414,11313879 2113 NM_005238,AP003397,CH471065,M11921,AK001630,AK291840,AL832693,BC017314,BG035366,BT019452,BT019453,BX640634,CA407336,CR542254,J04101,S67063,X14798 NP_005229,EAW67709,EAW67710,EAW67711,EAW67712,AAA52409,BAF84529,AAH17314,AAV38259,AAV38260,CAE45783,CAG47050,AAA52410,AAB28747,CAA32903,CAA32904,P14921,Q5U0M2,Q6FG54,Q6N087,Q96AC5 Hs.369438 GDB:119122 ETS-1|EWSR2|FLJ10768 protein-coding 1352353 ETS2 v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) ETS transcriptions factors, such as ETS2, regulate numerous genes and are involved in stem cell development, cell senescence and death, and tumorigenesis. The conserved ETS domain within these proteins is a winged helix-turn-helix DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T of target genes (Dwyer et al., 2007 [PubMed 17986575]).[supplied by OMIM] 1580863 18242510,8596630,16780588,18094719,17986575,17921261,17703088,16953216,16263717,15900611,15806151,15788656,15572696,15489334,15231748,14702039,14507917,12894593,12743594,12646185,12637547,12532432,12511603,12477932,12174931,12095911,11752456,11689681,11313931,11279115,11027273,10942770,10918595,10830953,10815800,10377039,10358095,10212281,9334186,3285299,3021321,2997781,2847145,2250910,2186967,16189514 2114 NM_005239,AF017257,AL163278,AP001040,AP001041,AP001732,CH471079,X55181,AA452482,AK000535,AK096841,AV661268,BC017040,BC042954,BT006838,CR608636,J04102,M11922 NP_005230,AAB94057,CAB90468,BAA95514,EAX09673,EAX09674,EAX09675,EAX09676,CAA38966,AAH17040,AAH42954,AAP35484,AAA52412,AAA52411,P15036,Q53Y89,ABM84763,ABW03617 Hs.709198 GDB:119888 ETS2IT1 protein-coding 1323762 ETV1 ets variant gene 1 1580863 17634427,17632455,17505060,17390040,17032499,15561718,15489334,15146197,14747462,14702039,12947087,12917345,12853948,12690205,12569367,12477932,12213813,11551945,10597226,9681824,7700648,17671502,9110174,8619474,7651741,1340465 2115 AC004857,AF109632,CH236948,NM_004956,CH471073,AB209202,AF070641,AK055368,BC042950,BC045776,BC098403,BC106762,BC106763,BF346325,CN396908,CN396911,CR627389,EF632110,U17163,X87175 NP_004947,AAC62435,AAD29877,AAD29878,EAL24294,EAW93654,EAW93655,EAW93656,EAW93657,EAW93658,EAW93659,EAW93660,EAW93661,EAW93662,BAD92439,AAH98403,AAI06763,AAI06764,CAH10484,AAA79844,CAA60642,P50549,Q59GA7,Q6AI30,ABZ92002 Hs.22634 GDB:335229 DKFZp781L0674|ER81|MGC104699|MGC120533|MGC120534 protein-coding 1351650 ETV2 ets variant gene 2 1580863 16344560,15057824,14702039,12477932,12087183,1340465 2116 NM_014209,AC002115,AA885210,AF000671,AK097439,BC040908,BC107123,BC107124,DB046527 NP_055024,AAB57630,AAD00861,AAI07124,AAI07125,O00321,Q3KNT2,Q3KNT3 Hs.194061 GDB:335231 ER71|ETSRP71|MGC129834|MGC129835 protein-coding 1348851 ETV3 ets variant gene 3 1580863 18025162,17525531,16710414,15489334,14754893,12477932,12007404,8020980 2117 AL157713,CH471121,AF218540,BC022868,NM_005240,L16464 NP_005231,EAW52888,EAW52889,AAK56846,AAH22868,AAA60949,P41162,ABM84081,ABM87757 Hs.352672 GDB:362716 METS|PE-1|PE1|bA110J1.4 protein-coding 1603450 ETV3L ets variant gene 3-like 440695 NM_001004341,AL157713,CH471121,AK131392 NP_001004341,EAW52891,BAD18543,Q6ZN32 Hs.127138 FLJ16478 protein-coding 1315190 ETV4 ets variant gene 4 (E1A enhancer binding protein, E1AF) 1580863 17938207,17585876,17475671,17467662,17060941,16912160,16786139,16752078,16738319,16678123,16652376,16585160,16297865,16158187,15800927,15756447,15695237,15629152,15611127,15489334,15461591,15387369,15342556,14976201,14718574,12779089,12684413,12477932,10949935,10564827,8605035,8530053,8441666,7987831,7796532,7774926 2118 NM_001986,AC068675,AF095886,AF095887,AF095888,AF095889,AF095890,CH471178,AK290429,BC007242,BC016623,BM013535,BP268896,BU166857,D12765,DB493072,DQ396625,DQ396626,U18018,NM_001079675 ABM86185,NP_001073143,NP_001977,AAD09186,EAW51673,EAW51674,EAW51675,BAF83118,AAH07242,AAH16623,BAA02234,AAA95991,P43268,Q96IU0,ABM82991 Hs.434059 GDB:512230 E1A-F|E1AF|PEA3|PEAS3 protein-coding 1320007 ETV5 ets variant gene 5 (ets-related molecule) 1580863 8152800,18172298,17638886,17489097,16615918,16613858,15857832,15652352,15620692,15534105,15489334,12477932,12387735,12036888,11840567,11509567,8941378,8661127,7559555 2119 NM_004454,AC108671,AC112649,AC131156,CH471052,X96375,X96381,BC007333,BT006713,CR456767,X76184 NP_004445,EAW78200,CAA65246,AAH07333,AAP35359,CAG33048,CAA53778,P41161,Q6IBN5,ABM81600,ABM84781 Hs.43697 GDB:361087 ERM protein-coding 1345405 ETV6 ets variant gene 6 (TEL oncogene) This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in the protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. 1581019,1580863 15970674,15958056,15887243,15806161,15761153,15729383,15704129,15489334,15328172,15229229,15179033,15142881,15104290,15054045,14726384,14668342,12893822,12737628,12626745,12588862,12527908,12526921,12505259,12477932,12450792,12435397,12393285,12210491,12203785,12590135,7761424,18445843,18212042,18202291,18172310,17980166,17972957,17956600,17889709,17854676,17690704,17673463,17503961,17366548,17344859,17285576,17095626,17077140,17015828,16914570,16898416,16737910,16673018,16572202,16386788,16307024,16278392,16105979,16081688,12091359,12080468,11861295,11861293,11731410,11483520,11078523,10702799,10502316,10477709,10377438,9651344,9462753,9360930,9171997,8889549,8889548,12127395,8743990,8653712,8168137,7805037,7780150,7731705,2687768,15143164,9695962 1581019 2120 AC007450,AC084358,AC084430,AM181353,CH471094,U45432,U61375,U63312,U63313,U81830,U81834,AA205762,AA452592,AI660081,AK289441,AV722693,BC020284,BC043399,BC061911,BF510432,BG741145,BM829795,BQ003277,BQ641702,BU681757,CB243807,CB962155,CB996610,T79261,U11732,Z35761,NM_001987 NP_001978,CAJ57643,EAW96240,AAB17016,AAC50690,AAB17134,AAB17135,AAB39862,AAB39882,BAF82130,AAH43399,AAA19786,CAA84815,P41212,Q1XE77,Q9UBM2,Q9UME7,ABZ92003 Hs.504765 GDB:120191,GDB:595497 TEL|TEL/ABL protein-coding 1353246 ETV7 ets variant gene 7 (TEL2 oncogene) 1580863 10828014,15743832,15489334,14702039,14574404,12588862,12477932,11108721,11032031,9373149,8125298 51513 NM_016135,CH471081,Z84484,AF116508,AF116509,AF116510,AF147782,AF175387,AF218235,AF218365,AF218366,AJ276205,AK026144,AK122796,AK223424,BC035853,CR622547 NP_057219,EAX03885,EAX03886,EAX03887,EAX03888,EAX03889,EAX03890,CAI21615,CAI21616,AAD43250,AAD43251,AAD43252,AAD33989,AAF25007,AAF28350,AAF44742,AAF44743,CAC17012,BAD97144,AAH35853,Q53F65,Q5R3L3,Q9Y603,ABZ92372 Hs.272398 TEL-2|TEL2|TELB protein-coding 1342513 EVC Ellis van Creveld syndrome This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. 1302823,1580863 10700184,18454448,17024374,15492864,15368503,12571802,12477932,10802674,8889548,8661097 1302823 2121 NM_153717,AC105915,AC116613,AF216184,AF216185,AF239742,AK025394,BC085608,BM670090 NP_714928,AAY40958,AAY41049,AAF37216,AAF37217,AAF44682,AAH85608,P57679,Q4W5A3,Q4W5F2,Q5U3C2 Hs.646899,Hs.670028 GDB:555573 DWF-1|EVC1|EVCL|MGC105107 protein-coding 1321308 EVC2 Ellis van Creveld syndrome 2 (limbin) 1302823,1600212 16404586,12571802,12477932,12468274,12136126,11076863 1302823,1600212 132884 NM_147127,AC114738,AC116613,CH471131,AB083067,AY152402,AY152403,AY185210 NP_667338,AAY41034,AAY41048,EAW82412,EAW82413,EAW82414,BAC06590,AAN86577,AAN86578,AAO22066,Q4W5A4,Q4W5B1,Q86UK5,AAI11456 Hs.87306 LBN protein-coding 1322216 EVI1 ecotropic viral integration site 1 1580863 11328817,17635584,18272813,18262061,18181178,17894555,17693194,17693189,17507183,17243162,17014970,16342172,16014322,15914564,15897867,15849193,14555651,12477932,12461752,12393383,11922610,11568182,11313276,10856240,9724649,9665135,8700545,8643684,8557637,8313895,2115646,11552981 2122 BC031019,BC130520,BX640908,BX647613,S82592,X54989,BC012450,NM_001105078,NM_005241,NM_001105077,AC078985,CH471052,AA043944,AF164155,AF164156,AF164157,AF487422,AF487423,AF487424,AK025934,AK292865 AAH31019,AAI30521,CAE45952,CAI46086,AAB37456,CAA38735,Q03112,Q5HYI1,Q6MZS6,Q8IU84,Q8IZU7,Q8NEI5,Q9UBK3,NP_001098548,NP_005232,NP_001098547,EAW78552,EAW78553,EAW78554,EAW78555,EAW78556,EAW78557,EAW78558,EAW78559,AAF04009,AAF04010,AAF04011,AAN39687,AAN39688,AAN39689,BAF85554 Hs.656395 GDB:119889 AML1-EVI-1|EVI-1|MDS1-EVI1|MGC163392|PRDM3 protein-coding 1350066 EVI2A ecotropic viral integration site 2A 1580863 2117566,17632510,15489334,12477932,2134734,2117565 2123 AC134669,CH471147,M55267,AV724051,BC035572,BG699778,BG700097,BI597493,CR590095,NM_014210,NM_001003927 EAW80276,AAA52413,AAH35572,P22794,ABM81735,ABM84890,NP_055025,NP_001003927 Hs.591198 GDB:125191 EVDA|EVI2 protein-coding 1347396 EVI2B ecotropic viral integration site 2B 1580863 1903357,17632510,16344560,12477932,2117566,2114220,1899288,1719426,1639383 2124 NM_006495,AC134669,CH471147,L05367,M60829,M60830,AA251185,AW576194,BC005926,CR616854,CR621796,DA677356 NP_006486,EAW80277,EAW80278,AAA35816,AAH05926,P34910,Q9BRW1,ABM84046,ABM87395 Hs.5509 GDB:125901 D17S376|EVDB protein-coding 1350871 EVI5 ecotropic viral integration site 5 1580863 16439210,9618176,17229837,16764853,16710414,16565220,16033705,15146197 7813 NM_005665,AC104332,AC104456,AL133332,AL354890,AB209513,AF008915,CN334472 O60447,Q59FE7,AAI41545,AAI56794,NP_005656,BAD92750,AAC16031 Hs.656836 GDB:9859643 NB4S protein-coding 1347720 EVI5L ecotropic viral integration site 5-like 16923123,16189514,15489334,14702039,12477932 115704 NM_145245,AC008812,AC010336,CH471139,AK091609,BC014111 NP_660288,EAW68973,EAW68974,EAW68975,AAH14111,Q96CN4 Hs.26870 protein-coding 1605079 EVL Enah/Vasp-like 9268706,10993894,18357390,17998398,16806233,16376568,16336193,15939738,15656790,15489334,15469846,15469845,15302935,14702039,14506234,12477932,12029088,10945997,10931946,10747096,9110174,8619474,16189514 51466 NM_016337,AL133523,AL157912,CH471061,AF052504,AF087843,AF112209,AF131766,AK092467,AK289720,AL133642,BC023997,BC032358,BC049376,BQ083568,CR602298,CR605129,CR606351,CR612426,CR613658,CR613692,CR621654,CR624531,CR625255 NP_057421,EAW81684,EAW81685,EAW81686,EAW81687,AAF21709,AAP97156,AAF17197,AAD20040,BAF82409,CAB63763,AAH23997,AAH32358,AAH49376,Q499Z9,Q9UI08,ABM84269 Hs.125867 RNB6 protein-coding 1314586 EVPL envoplakin 1580863 15756445,15342556,15033990,10908733,8707850,12477932,12432088,12366696,11062259,10747979,10409435,9651377,9412476,9115270,8999895,8938451 2125 NM_001988,AC040980,CH471099,U72849,AK290333,BC126103,BC126105,BP353801,U53786 NP_001979,EAW89356,EAW89357,AAD00186,BAF83022,AAI26104,AAI26106,AAC64662,A0AUV5,Q92817 Hs.500635 GDB:1230202 EVPK protein-coding 1345834 EVR1 exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome) 1598965 2126 GDB:134029 1348376 EVR2 exudative vitreoretinopathy 2 (X-linked) 7558002 2127 GDB:136068 1344299 EVX1 even-skipped homeobox 1 This gene encodes a member of the even-skipped homeobox family characterized by the presence of a homeodomain closely related to the Drosophila even-skipped (eve) segmentation gene of the pair-rule class. The encoded protein may play an important role as a transcriptional repressor during embryogenesis. 1580863 1684419,12853948,12690205,9847074,7499236 2128 NM_001989,AC004080,CH236948,CH471073,U68781,U68782,X60655 NP_001980,EAL24216,EAW93892,AAB07598,CAA43062,P49640,AAI52724 Hs.369879 GDB:129081 eve, even-skipped homeo box homolog 1 (drosophila) protein-coding 1348415 EVX2 even-skipped homeobox 2 1580863 15815621,11778160,11181995,1675198 344191 NM_001080458,AC009336,CH471058,M59982,M59983 NP_001073927,EAX11096,AAA52414,Q03828 Hs.452341 GDB:127528 eve, even-skipped homeo box homolog 2 (drosophila) protein-coding 1316345 EWSR1 Ewing sarcoma breakpoint region 1 This gene encodes a putative RNA binding protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in two products. 1598915,1580863 8084618,18413612,18223324,18212050,17724745,17647282,17638877,17163154,17114343,16965792,16713569,16344560,16327442,16189514,15919668,15917470,15884099,15782174,15635413,15489334,15461802,15324660,15282325,15231748,15044653,15021903,14702039,14534527,12915128,12527906,12527902,12477932,12459554,12432261,12359745,12183411,12049818,11992546,11960373,11422378,11278906,10949935,10838070,10827180,10767297,10322114,9704926,9660765,9488465,9373149,9341188,9201297,8975699,8954779,8921363,8889548,8604338,8570200,8552387,8522311,8401579,8307570,8125298,7542907,1522903,1127890,934118,17353931 1598915 2130 NM_013986,AB016435,AC000026,AC002059,AL031186,CH471095,CQ867364,X72990,X98745,Y07848,Y08806,AF327066,NM_005243,AI564543,AK026270,AK056309,AK056681,AK096787,AK127624,AK225096,AK225102,AL833489,BC000527,BC004817,BC011048,BC072442,BE741903,AF524261,BM981230,BX648769,CR456490,CR593724,CR594868,CR602561,CR604639,CR604952,CR608375,CR608666,CR610888,CR617490,CR618632,CR619493,CR625247,CX786322,DB051511,X66899 NP_005234,NP_053733,BAA31990,CAI18001,CAQ10932,CAQ10933,CAQ10934,CAQ10935,CAQ10936,CAQ10937,CAQ10938,CAQ10939,CAQ10940,EAW59780,EAW59781,EAW59782,EAW59783,EAW59784,EAW59785,EAW59786,EAW59787,CAH33891,CAA51489,CAA69177,CAA70044,AAK11227,AAQ08876,BAB71145,BAB71252,AAH00527,AAH04817,AAH11048,AAH72442,CAG30376,CAA47350,Q5THL0,Q71E78,Q96FE8,Q96MN4,Q96MX4,Q9BWA2,Q9BZD1,CAK54518,CAK54817,Q01844 Hs.374477 GDB:135984 EWS protein-coding 1605271 EXDL1 exonuclease 3'-5' domain-like 1 12477932 161829 AK123414,AK292524,BC030628,NM_152596,AC012652,AC022408,CH471125 BAC85610,BAF85213,AAH30628,Q8NHP7,ABM83411,ABM86622,NP_689809,EAW92473 Hs.307999 MGC33637 protein-coding 1322357 EXDL2 exonuclease 3'-5' domain-like 2 15489334,14702039,12477932 55218 NM_018199,AL359317,CH471061,AK001600,AK056025,AK292563,AL834434,BC001962,BX161412,BX647767,CR936728,CR936729 NP_060669,EAW80984,EAW80985,BAA91781,BAF85252,CAD39094,AAH01962,CAD61888,CAH10568,Q6AWB6,Q86TX3,Q9NVH0 Hs.649365 C14orf114|DKFZp781A0133|DKFZp781L15100|FLJ10738 chromosome 14 open reading frame 114 protein-coding 1349081 EXLD1 extracellular link domain containing, 1 26283 GDB:10795382 1319820 EXO1 exonuclease 1 This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. 8889548,16189514,11842105,10608837,2414623,9788596,10856833,11427529,11429708,12414623,14676842,15225546,15886194,10364235,14636568,11809771,9685493,18270339,18205772,18079015,18048416,17855454,17426132,16710414,16195237,16143102,15550454,15489334,15328369,15302935,14756672,14623461,12704184,12517792,12477932,11375940,9823303 9156 NM_130398,NM_006027,NM_003686,AC004783,AF091742,AF091754,AF549168,AL365366,CH471098,AF042282,AF060479,AF084974,AF091740,AK291291,AL080139,BC007491,BM465399,BM983504,CD644038,CR594301,CR612395,CR616899 NP_569082,NP_006018,NP_003677,AAC32424,AAC69879,AAC69880,AAN39382,CAI15655,CAI15656,CAI15657,CAI15658,EAW70103,EAW70105,EAW70106,AAC32259,AAC33874,AAD13754,AAC63043,BAF83980,CAB45733,AAH07491,Q5T397,Q5T399,Q9UQ84,ABM83958,ABW03555,EAW70104 Hs.498248 GDB:9955132 HEX1|hExoI protein-coding 1312667 EXOC1 exocyst complex component 1 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. 12687004,12665801,12477932,11493706,11042152,9655500,9405631,11406615,15489334,15037366,14702039,14525976 55763 NM_001024924,NM_018261,NM_178237,AC110611,CH471057,AF208854,AK001755,AK023461,AK027047,AK027413,AL833208,AW589689,BC019237,BC020650,BC094751,BI760313,BM468054 NP_001020095,NP_060731,NP_839955,EAX05473,EAX05474,EAX05475,EAX05476,AAF64268,BAA91886,BAB55095,AAH19237,AAH20650,AAH94751,Q9NV70 Hs.269665 BM-102|FLJ10893|SEC3|SEC3L1|SEC3P protein-coding 1348584 EXOC2 exocyst complex component 2 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. 1580863 12459492,17952075,17018283,15489334,15302935,15037366,14702039,14574404,14525976,12839989,12687004,12624092,12575951,12477932,11744922,11493706,9655500,9405631,15920473 55770 NM_018303,AL031770,AL357054,AL512308,CH471087,AJ414403,AJ420556,AK001888,AK056564,AL833209,AL833213,BC016918,BC080542 NP_060773,CAI19790,CAJ65833,CAH70772,EAW55061,EAW55062,CAC92092,BAA91963,CAI46189,AAH16918,AAH80542,Q2MDF5,Q96KP1 Hs.484412 FLJ11026|SEC5|SEC5L1|Sec5p protein-coding 1344149 EXOC3 exocyst complex component 3 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. 737633,1580863 15489334,15037366,14525976,12954101,12693554,12687004,12477932,11865051,11406615,9655500,9405631,9110174,8982167,8619474,12738960 737633 11336 NM_007277,AC010442,CH471235,AA487875,AF055006,AI628051,AK074086,AK131103,AL545132,AL589499,AL832434,BC001511,BC019304,BC034427,BC064569,CR625116 NP_009208,EAW51000,EAW51001,EAW51002,EAW51003,AAC09358,BAB84912,BAC85153,CAH10613,AAH01511,AAH19304,AAH64569,O60645,Q69YP2,Q6P2E8,Q6ZNJ2 Hs.646923 SEC6|SEC6L1|Sec6p sec6-like 1 (s. cerevisiae) protein-coding 1605832 EXOC3L exocyst complex component 3-like 16344560,14702039,12477932 283849 NM_178516,AC040160,AC074143,CH471092,AI796350,AK092858,AK092906,AK292004,BC034287,DA945486 NP_848611,EAW83092,EAW83093,BAC03991,BAC04000,BAF84693,AAH34287,Q86VI1,Q8N4H1,Q8NAC4 Hs.647356 FLJ35539|FLJ35587|MGC88052 protein-coding 1605316 EXOC3L2 exocyst complex component 3-like 2 16087118,14702039,12477932,9373149,8125298 90332 NM_138568,AC006126,CH471126,AF490256,AK093466,AK225791,BC104947,BC104949 NP_612635,EAW57331,AAO85464,BAC04175,AAI04948,AAI04950,Q2M3D2 Hs.337557 FLJ36147|MGC16332|XTP7 protein-coding 1353036 EXOC4 exocyst complex component 4 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 15880602,15489336,15037366,14702039,14525976,12738960,12690205,12687004,12675619,12544826,12477932,11865051,11406615,11230166,11214970,11076863,9655500,9630218,9405631,17353931,14743216,11256614,16964243,16381901 60412 NM_001037126,AC007790,AC009178,AC009180,AC009358,AC024086,AC083872,AC083875,AC093147,CH236950,CH471070,AB051486,AF132734,AF380839,NM_021807,AK022751,AK027688,AK095495,AL831989,AL834475,AW451395,BC020607,BC026174,BC067263,BE244117,BE246205 NP_068579,NP_001032203,EAL24073,EAW83804,EAW83805,EAW83806,BAB21790,AAF66445,BAB14225,BAB55298,CAD89977,CAD39134,AAH20607,AAH26174,AAH67263,Q541U8,Q6NX51,Q6PJ82,Q8TAR2,Q96A65,AAK57456,CAL38306 Hs.321273 MGC27170|REC8|SEC8|SEC8L1|Sec8p sec8-like 1 (s. cerevisiae) protein-coding 731494 EXOC5 exocyst complex component 5 The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. 1580863 9119050,16713569,15880602,15146197,15037366,14662749,14525976,12687004,12477932,11865051,11406615,9655500,9405631,8889548 10640 NM_006544,AL139195,AL391152,CH471061,AA837306,AF118083,AK025802,AL118623,AL833745,BC006976,BC020643,BC031298,BC041126,BI460915,BI461191,BM723045,CB145811,CN268669,CR603207,CR607478,U85946 NP_006535,EAW80697,EAW80698,EAW80699,AAF22027,CAH56255,AAH41126,AAB53388,O00471,Q658M3,Q8IW24,Q9UHT0 Hs.655158 GDB:9958077 DKFZp666H126|HSEC10|PRO1912|SEC10|SEC10L1|SEC10P component of rsec6/8 secretory complex p71 (71 kda) protein-coding 733206 EXOC6 exocyst complex component 6 The product of this gene belongs to the SEC15 family. It is highly similar to the protein encoded by Saccharomyces cerevisiae SEC15 gene. This protein is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. Alternatively spliced transcript variants encoding different isoforms have been identified. 69939,1580863 16478783,15489334,15292201,15205466,14702039,12477932,8889548 69939 54536 CR605041,NM_001013848,NM_019053,AL157705,AL358613,AL392103,AL590080,CH471066,AF220217,AI039616,AI680957,AK002113,AK123268,AK128190,AL137438,AL832501,BC028395,BC041403,BM148225,BU674151,CB991016,EF571007 NP_001013870,NP_061926,CAH72805,EAW50082,EAW50083,EAW50084,EAW50085,EAW50086,AAF37262,BAA92088,CAB70736,AAH28395,AAH41403,ABQ95573,Q49AA9,Q5JSE4,Q5JSE5,Q5JUT7,Q5VXH8,Q8TAG9,Q9NTA6,Q9NUN4 Hs.655657 DKFZp761I2124|EXOC6A|FLJ1125|FLJ11251|MGC33397|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p protein-coding 1349809 EXOC6B exocyst complex component 6B In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM] 1580863 14702039,12477932,11406615,10231032,9847074,12954101,9405631 23233 AC092630,AC104309,AC105051,AB023136,AK023791,AK026474,BC029921,BX951761,CR619266,DR001300,NM_015189,AC006461,AC016770 BAA76763,BAB14681,Q9H8D6,Q9Y2D4,NP_056004 Hs.303454 KIAA0919|SEC15B|SEC15L2 protein-coding 1347556 EXOC7 exocyst complex component 7 EXOC7 is a component of the exocyst, which is an evolutionarily conserved octameric protein complex essential for exocytosis. The exocyst targets secretory vesicles at specific domains of the plasma membrane for cell surface expansion and protein secretion (Zuo et al., 2006 [PubMed 17086175]).[supplied by OMIM] 737633,1580863 17086175,16964243,15705715,15489334,15205466,14702039,12477932,11054383,10610771,10608757,10470851,12738960,12687004,9405631,16189514,11406615,14525976 737633 23265 NM_015219,NM_001013839,AC018665,AF067415,CH471099,AB028990,AF189373,AF194709,AF231395,AF267780,AK022397,AK022552,AK023832,AK024769,AK098284,AK128278,AL162005,AL834324,AY869728,BC011045,BC015165,BC018466,BC029432,BX647763,BX648435,CB989148 NP_056034,NP_001013861,AAC25180,EAW89367,EAW89368,EAW89369,EAW89370,EAW89371,EAW89372,EAW89373,EAW89374,BAA83019,AAF29160,AAF20567,AAF75628,AAF78686,BAB14026,BAB14095,BAB14694,CAD38992,AAW65095,AAH11045,AAH15165,AAH18466,CAH56185,Q5G0E1,Q63HP7,Q96BU6,Q9UPT5 Hs.449585,Hs.533985,Hs.551925,Hs.633454 2-5-3p|DKFZp686J04253|EX070|EXO70|EXOC1|Exo70p|FLJ40965|FLJ46415|YJL085W protein-coding 1343470 EXOC8 exocyst complex component 8 737633,1580863 16189514,16710414,15489334,14702039,14525976,12954101,12687004,12477932,11406615,9655500,9405631 737633 149371 NM_175876,AL117352,CH471098,AK096460,AL133716,BC035763,CA775845 NP_787072,EAW69955,AAH35763,Q8IYI6 Hs.356198 EXO84|Exo84p|SEC84 protein-coding 1605306 EXOD1 exonuclease domain containing 1 17135487,12477932,10819331 112479 AC004381,CH471228,AB040937,NM_080663,AK127391,AK292594,BC010503,BX648185 NP_542394,EAW66836,EAW66837,BAA96028,BAC86956,BAF85283,AAH10503,Q6ZSJ2,Q96FR9,Q9P224,ABM85927,ABM85928 Hs.248437 KIAA1504|MGC16943 protein-coding 1352643 EXOSC1 exosome component 1 This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. 1580863 11812149,16344560,15635413,15489334,15231747,15164054,14702039,12477932,12419256,11879549,11719186,11110791,11027292,10810093,16189514 51013 NM_016046,AL355490,CH471066,AF151866,AK091709,BC012538,BC022067,CR595473,DB137484 NP_057130,Q5JTH6,Q9Y3B2,CAI40779,CAI40780,CAI40781,CAI40782,EAW49936,AAD34103,AAH22067,Q5JTH5 Hs.632089 CGI-108|CSL4|Csl4p|RP11-452K12.9|SKI4|Ski4p|hCsl4p|p13 protein-coding 1349336 EXOSC10 exosome component 10 1580863 15231747,1383382,17545563,15489334,14872500,14702039,14527413,12788944,12477932,12429849,12419256,11879549,11812149,11719186,11426320,11110791,10465791,1644924,14743216 5394 NM_002685,NM_001001998,AJ300188,AL109811,CH471130,AB209236,AK093955,AK123365,BC008460,BC009908,BC028687,BC039901,BC073788,CR594914,L01457,X66113 NP_002676,NP_001001998,CAC15569,EAW71677,EAW71678,EAW71679,BAD92473,AAH09908,AAH39901,AAH73788,AAB59352,CAA46904,Q01780,Q59G73,Q5TER4,Q5TER5,Q96G78 Hs.632368 PM-Scl|PM/Scl-100|PMSCL|PMSCL2|RRP6|Rrp6p|p2|p3|p4 protein-coding 1315266 EXOSC2 exosome component 2 633241,1580863 8600032,15231747,17545563,15635413,15489334,15302935,15175153,14702039,14527413,12477932,12419256,11879549,11812149,11719186,11110791,10465791,9390555,8453102,7665185,6319012,6316147,6302194,6281890,3313010,3023859,3021337,2989703,2678002,2193202,2163052,1868241,1538749 633241 23404 NM_014285,AL359092,CH471090,U07561,AK001916,AK022460,AK090512,AK092727,BC000747,BC128445,CB112633,CR590387,CR622078 NP_055100,EAW87941,EAW87942,EAW87943,EAW87944,AAB60392,BAA91977,BAB14043,AAH00747,AAI28446,Q13868,ABM83679,ABW03545 Hs.654643 RRP4|Rrp4p|hRrp4p|p7 protein-coding 1312357 EXOSC3 exosome component 3 1580863 11110791,15231747,15489334,15175153,12477932,12419256,11879549,11812149,11790298,11719186,10810093,10465791,16189514 51010 NM_001002269,NM_016042,AL138752,CH471071,AF151860,AF229833,AF281132,AI886209,AK289571,AK290864,BC002437,BC008880,CA414231,CF994051 NP_001002269,NP_057126,CAI13880,EAW58264,AAD34097,AAF42918,AAF82133,BAF82260,BAF83553,AAH02437,AAH08880,Q5QP85,Q9NQT5,Q9NYS3,ABM82864,ABM86051 Hs.591076,Hs.602571 CGI-102|MGC15120|MGC723|RP11-3J10.8|RRP40|Rrp40p|bA3J10.7|hRrp40p|p10 protein-coding 2293248 EXOSC3P1 exosome component 3 pseudogene 1 100151640 NG_007654,AP000271 pseudo 1322197 EXOSC4 exosome component 4 1580863 11110791,15231747,17545563,16341674,15635413,15489334,14702039,14527413,12477932,12419256,11879549,11812149,11790298,11719186,10465791,16189514,12788944 54512 NM_019037,AC109322,CH471162,AF281133,AK000598,BC002777,BM839994 NP_061910,EAW82166,AAF82134,BAA91279,AAH02777,Q9NPD3 Hs.632041 FLJ20591|RRP41|RRP41A|Rrp41p|SKI6|Ski6p|hRrp41p|p12A protein-coding 1317301 EXOSC5 exosome component 5 1580863 12419256,12359762,11879549,11719186,10465791,8889548,11110791,11812149,17081983,16815301,16189514,15635413,15489334,15231747,12477932 56915 NM_020158,AC011462,CH471126,AF281134,AF285785,BC007742,BC107696,BU683254,CR592651,CR600780,CR620099,CR621752 NP_064543,EAW57038,AAF82135,AAM75154,AAH07742,AAI07697,Q9NQT4 Hs.283741 MGC111224|MGC12901|RRP41B|RRP46|Rrp46p|hRrp46p|p12B protein-coding 1320385 EXOSC6 exosome component 6 This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. 15231747,14702039,12477932,12419256,11967169,11812149,11719186,11110791 118460 NM_058219,AC009060,CH471241,AK024276,AK095542,BC052252 NP_478126,EAW51841,AAH52252,Q5RKV6 Hs.461187,Hs.660633 EAP4|MTR3|Mtr3p|hMtr3p|p11 protein-coding 1320266 EXOSC7 exosome component 7 1580863 11849973,11812149,11719186,16189514,15635413,15489334,15231747,14702039,12477932,12419256,11879549,11790298,11110791,7788527 23016 NR_023353,AC104165,CH471055,AK090511,AK130053,AK315741,BC012831,BU153856,NM_015004,CR595617,CR603652,CR613866,CR616454,D29958 NP_055819,EAW64731,EAW64732,EAW64733,EAW64734,BAC03469,BAG38096,AAH12831,BAA06226,Q15024 Hs.709370 EAP1|FLJ26543|KIAA0116|RRP42|Rrp42p|hRrp42p|p8 protein-coding 1314633 EXOSC8 exosome component 8 1580863 15231747,15635413,15489334,14702039,12477932,12419256,11929972,11812149,11719186,11110791,9466265,11158571 11340 NM_181503,AL138706,CH471075,AF025438,AF279901,AK096810,AK126602,BC020773,CR595030,CR602904,CR612849,AL050353 NP_852480,CAI14013,EAX08579,EAX08580,EAX08581,AAC39558,AAH20773,Q5JXM0,Q5TBA5,Q96B26,CAI46226,ABM84060,ABM87413 Hs.294041 CIP3|EAP2|OIP2|RP11-421P11.3|RRP43|Rrp43p|bA421P11.3|p9 protein-coding 1317344 EXOSC9 exosome component 9 1580863 11879549,14667819,15231747,2007859,17545563,17081983,16730941,15635413,14872500,12788944,12477932,12419256,11812149,11782436,11719186,11110791,10465791 5393 NM_001034194,NM_005033,AC079341,CH471056,AJ505989,AJ517294,BC012371,BC142978,BU615347,BX649106,CR595328,CR596830,CR600057,CR617928,CR621174,CR621291,M58460,U09215 NP_001029366,NP_005024,AAY40968,EAX05247,EAX05248,EAX05249,EAX05250,EAX05251,EAX05252,CAD44530,CAD56889,AAI42979,AAA58384,AAA18832,Q06265,Q4W5P5,AAI40039,AAI40040 Hs.91728 PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6 protein-coding 1604627 EXPH5 exophilin 5 15489334,15231748,12590134,12477932,12189142,12062444,11773082,9734811 23086 NM_015065,AP000871,AP002453,AP005718,CH471065,AB014524,AK025008,AY099469,BC031034,BC113119,BC117701,CR627226 NP_055880,EAW67121,BAA31599,AAM44402,AAI13120,AAI17702,CAH10364,Q149M6,Q6AI59,Q8NEV8 Hs.269591 DKFZp781H0795|KIAA0624|MGC133291|MGC134967|SLAC2-B protein-coding 1313966 EXT1 exostoses (multiple) 1 This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. 1598916,1580863 12907669,17353931,10639137,17761672,7550340,10878610,9620772,18216313,17676624,17610078,17589361,17341731,17301954,16638657,16283885,16088908,15985493,15796962,15586175,15489334,15385438,12907685,12477932,12032595,11849148,11518722,11432960,11391482,11169766,10679937,10679296,10545594,10480354,10441575,9756849,9703997,9521425,9463333,9326317,9119404,8981950,8530105,8317501,1757967,16189514 1598916 2131 NM_000127,NG_007455,AC021937,AC113188,AP003476,CH471060,U70539,AK130054,BC001174,S79639 NP_000118,EAW91972,AAC51154,AAH01174,AAB62283,Q16394,ABM82794,ABM85982 Hs.492618 GDB:135994 EXT|ttv protein-coding 1317052 EXT2 exostoses (multiple) 2 This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. 1580863 12907669,17353931,17761672,9326317,10878610,16283885,16088908,15796962,15586175,15489334,14654969,12907685,12477932,11668521,11432960,11391482,11170095,11169766,10738008,10679937,10679296,10545594,10480354,10429361,9756849,9620772,9576285,9463333,9110175,8894688,8782816,8162019,7668264,16189514,10639137,18294062,18210030,17928989,17786204,17676624,17589361,17301954,17293876,16638657 2132 NM_000401,NM_207122,NG_007560,AC068457,AC103854,AC134775,CH471064,U67354,U67355,U67368,BC013050,BC068545,BM997250,BX648142,U62740,U64511,U72263,BC010058 NP_000392,NP_997005,EAW68067,EAW68068,EAW68069,EAW68070,EAW68071,AAH10058,AAH68545,AAB07008,AAC50764,AAB62718,Q6NUL1,Q93063,AAC51219 Hs.368404 GDB:344921 SOTV protein-coding 1353323 EXT3 exostoses (multiple) 3 8081357 2133 GDB:383780 1319981 EXTL1 exostoses (multiple)-like 1 This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. 1580863 10480354,9037597,16710414,16344560,15489334,15110891,12477932,12417417,11390981,10575224 2134 NM_004455,AF083633,AF153980,AL391650,CH471059,BC065528,DA182373,R67266,U67191 NP_004446,AAD02840,AAF73172,CAI17130,EAX07851,AAH65528,AAC51141,Q92935 Hs.150956 GDB:6268492 EXTL|MGC70794 protein-coding 1317015 EXTL2 exostoses (multiple)-like 2 1580863 10318803,15831490,14702039,12477932,10639137,9473480,9450183,8889548 2135 NM_001439,NM_001033025,AC104506,CH471097,AB009284,AF000416,AK001450,AK096914,BC014910,BC036015,BC045681,BU689972,CR624682,U76189 NP_001430,NP_001028197,EAW72946,EAW72947,EAW72948,BAA24081,AAC02898,BAC04893,AAH14910,AAH36015,AAH45681,AAB93669,O00245,Q05DH5,Q49A43,Q8IYF4,Q8N8F1,Q9UBQ6 Hs.357637 GDB:9834880 EXTR2 protein-coding 1348647 EXTL2P exostoses (multiple)-like 2 pseudogene 9450183 2136 GDB:9834883 735783 EXTL3 exostoses (multiple)-like 3 1580863 17106246,15489334,12477932,11832488,11257457,10753861,10639137,9628581,9479495,9473480,9450183 2137 AC131969,CH471080,U96629,AB007042,AB011091,AF001690,AF029231,AF083551,BC006363,BT007353,NM_001440,CR620585,CR749646,U76188 NP_001431,EAW63507,EAW63508,EAW63509,AAB67602,BAA24080,BAA25445,AAC39598,AAD01877,AAD42041,AAH06363,AAP36017,CAH18440,AAB93670,O43909,Q53XT3,Q68CZ0,ABM81624,ABM84809 Hs.491354 GDB:9836495 DKFZp686C2342|EXTR1|KIAA0519|REG|REGR|RPR|botv protein-coding 1317054 EYA1 eyes absent homolog 1 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene. 1598917,1580863 12874121,12701758,12500905,12404110,12070080,11950062,11734542,11683347,11558900,11409867,10991693,10655545,10490620,10464653,9020840,17637804,17049623,16797546,16691597,16441263,16344560,16005355,15493068,15489334,15226428,15141091,9853969,9603436,9428512,9361030,9359046,8889548,7829101,2154751 1598917 2138 DA618315,DB004805,DC409057,NM_172060,NM_172058,NM_172059,AC016465,AC022858,AJ786168,AJ786169,CH471068,Y10260,AF467247,AJ000097,AJ000098,AK127798,BC121798,BC121799,BI497179,BU679404,NM_000503 Q0P517,Q4A4D0,Q8WX80,Q99502,NP_000494,NP_742057,NP_742055,NP_742056,CAH05072,CAH05073,EAW86973,EAW86974,EAW86975,EAW86976,EAW86977,EAW86978,EAW86979,EAW86980,CAA71309,AAL73437,CAA03922,CAA03923,AAI21799,AAI21800 Hs.491997 GDB:5215167 BOP|BOR|MGC141875 protein-coding 1350703 EYA2 eyes absent homolog 2 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Five transcript variants encoding three distinct isoforms have been identified for this gene. 1580863 9020840,16189514,15705892,15489334,14702039,12500905,12477932,12039049,11780052,10906137,9887327,9195991,9110174,9049631,8619474 2139 NM_172110,NM_172113,NM_172111,NM_172112,AL049540,AL121776,AL354766,AL359434,AL390211,CH471077,Y10261,AF055015,AF387364,AF455147,AF455148,AF455149,AF455150,AJ007992,AK093582,AK293032,AY705349,BC000289,BC008803,BC013882,BT006682,NM_005244,U71207,U81601 NP_005235,NP_742108,NP_742111,NP_742109,NP_742110,EAW75720,EAW75721,EAW75722,CAA71310,AAC09362,AAK62466,AAK62467,AAL57874,AAL57875,AAL57876,AAL57877,AAL57878,CAA07815,BAF85721,AAU11525,AAH00289,AAH08803,AAH13882,AAP35328,AAB51120,AAB42065,O00167,O60647,Q5JSW7,Q66T69,Q86U84,Q8WXB5,Q96J96,Q96J97 Hs.472877 GDB:6276679 EAB1|MGC10614 protein-coding 1320540 EYA3 eyes absent homolog 3 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator and have a role during development. A similar protein in mice acts as a transcriptional activator. 1580863 9020840,9049631,14628042,12477932,12215533,10490620,9887327 2140 NM_001990,AL137792,AL512288,CH471059,Y10262,AJ007991,AK289805,AL603098,BC029500,BC041667,BQ018346,BX648945,U81602 NP_001981,CAI14296,CAI14297,CAI14298,EAX07713,CAA71311,CAA07814,BAF82494,AAH29500,AAH41667,AAB42066,Q0P685,Q5T0Z2,Q5T0Z4,Q8IVX7,Q99504,ABZ92386 Hs.706831 GDB:6276681 DKFZp686C132 protein-coding 1316090 EYA4 eyes absent homolog 4 (Drosophila) This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transciptional activator and be important for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Three transcript variants encoding distinct isoforms have been identified for this gene. 1598455,1580863 9887327,17568404,17567890,16964243,16344560,15735644,15489334,14574404,12477971,12477932,11159937,10769282,8776603 1598455 2070 NM_172105,NM_004100,NM_172103,AL024497,AL121959,AL356242,AL450270,CH471051,Y17847,AJ007993,AJ007994,BC014193,BC030588,BC041063,BX490250,DA760903,Y17114 NP_742103,NP_004091,NP_742101,CAI42523,CAI42524,CAI42525,CAB92069,CAI41272,CAI41273,EAW48004,EAW48005,EAW48006,CAA76891,CAA07816,CAA07817,AAH14193,AAH41063,CAA76636,O95677,Q5JS10,Q96CJ7,ABZ92385 Hs.661127 GDB:700062 CMD1J|DFNA10 protein-coding 1343253 EYCL1 eye color 1 (green/blue) 3568446 2141 GDB:119269 1350666 EYCL3 eye color 3 (brown) 8875191 2144 GDB:4590306 1312813 EZH1 enhancer of zeste homolog 1 (Drosophila) 1580863 8921387,15489334,12477932,9584197,9473645,9205841,7774926,7774925,7774924,7490091,9566901 2145 NM_001991,AC100793,CH471152,AB002386,AB004818,AL833159,BC015882,BT009782,L38934,L38938,U50315 NP_001982,EAW60870,EAW60871,BAA20842,BAA25019,AAH15882,AAP88784,AAB59574,AAC50778,Q92800 Hs.194669 GDB:1230513 KIAA0388 protein-coding 1312683 EZH2 enhancer of zeste homolog 2 (Drosophila) This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 8954776,15385962,16357870,17560333,8921387,18377425,18285464,18269588,18095286,17996646,17911618,17804093,17676662,17640228,17596871,17545586,17541304,17502350,17344414,17332078,17237810,17172412,17134822,17081983,17018586,16964243,16855786,16717091,16575874,16565220,16489070,16361539,16331887,16314526,16224021,16215315,16189514,16169070,16015586,15882624,15856046,15817459,15536069,15302935,15225548,15208672,15099518,15077161,14965441,14702039,14532106,14500907,12853948,12690205,12477932,12374981,11571280,11342607,10780782,10581039,9742080,9584199,9584197,9499421,9214638,8889548,8649418,14610174 2146 NM_004456,NM_152998,AACC02000041,AC006323,AC073140,CH471146,U52965,AB208895,AK092676,AY519465,BC010858,BG829016,BM974565,CR604099,U61145,X95653 ABM85105,NP_694543,NP_004447,EAL24423,EAL24424,AAS02035,AAS02036,AAS07448,EAW80067,EAW80068,EAW80069,EAW80070,AAC50591,BAD92132,AAS09975,AAH10858,AAC51520,CAA64955,Q15910,Q59H64,Q6R125,Q75MG3,Q75MP9,Q75MQ0,Q96FI6 Hs.444082 GDB:701613 ENX-1|EZH1|KMT6|MGC9169 protein-coding 1350208 EZR ezrin The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. 1580863 15252013,15178693,15149851,15096511,14981079,14704791,14704789,14676203,14574404,12860416,12808036,12800220,12769842,12734202,12711360,12651155,12626536,12560083,12477932,12429733,12385025,12370738,12360288,12271120,12111362,12082081,12080047,12070130,12032545,11784723,11726633,11706008,11468295,11438984,11387207,11285285,11013215,10970850,10955717,10893422,10806479,10733515,10713718,10704377,10462524,10377409,10036239,15498789,15489334,9928947,9921900,9748260,9705328,9616160,9501018,9314537,9287351,8892894,8713105,8248180,8162705,8089177,7876308,7579708,2674140,2592436,2591371,1924289,1762625,1382070,1381389,1159819,14739941,15818415,9213396,16189514,14625392,15659383,17353931,10799517,9009265,12387735,10793131,7844168,11598191,9852149,18078820,18046454,17911601,17886294,17881735,17825285,17786474,17726647,17659733,17616675,17538024,17525629,17515952,17370041,17370040,17237445,17028919,16889625,16873375,16677779,16648854,16633060,16554733,16538541,16438931,16352594,16344560,16230228,16144921,16129695,15843435,15797715,15751968,15729356,15677456,15647376,15623525,15531580 7430 NM_003379,NM_001111077,AL589931,CH471051,AF187552,AF188896,AF188897,AF189213,AF190059,AF199015,AI366687,AK129727,AL162086,BC013903,BC068458,CR594430,CR601963,CR607588,CR607782,CR614834,CR617104,DA754543,DA783190,J05021,X51521 NP_003370,NP_001104547,CAI95307,EAW47646,EAW47647,AAD56713,AAF03154,AAF03155,AAF03156,AAF03158,AAF09502,CAB82418,AAH13903,AAH68458,AAA61278,CAA35893,P15311,Q6NUR7,Q9UJU1,Q9UJZ2,Q9UJZ6,Q9UJZ7,Q9UJZ8,Q9UK20,ABM83680,ABM86977 Hs.705581 GDB:120489 CVIL|CVL|DKFZp762H157|FLJ26216|MGC1584|VIL2 villin 2 (ezrin) protein-coding 1342967 F10 coagulation factor X This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. 1601104,1580376,1580863,2290183 18267072,18245654,18198180,18174463,18062812,18000611,17973648,17726015,17646160,17635109,17588602,17553804,17469850,17403098,17393015,17391309,17343367,17173931,17118432,17020886,16940049,16935856,16894464,16839353,16580898,16517611,16359518,16212554,16207719,16105945,16079143,16042383,16006504,15924438,15897196,15892863,15882255,15641797,15634274,15567463,15550696,15494418,15489334,15347660,15328360,15326167,15069066,15009463,14979399,14963035,14750502,14739327,14629468,14583605,14576464,14575696,14532267,12941034,12805370,12787023,12574802,12529356,12524437,12490286,12477932,12426309,12379114,8639673,14982929,3011603,7598447,2110473,2271516,3052293,14718574,18278195,12370181,12220193,12163491,12123809,12056907,12036878,12011050,11983337,11914651,11867437,11864704,11854268,11560488,11371191,10828960,10746568,10521497,10460162,10391209,9759621,9734641,9689066,9618463,9596664,9538022,9402754,9198147,9079657,8939944,8702971,8663221,8460120,8428982,8355279,8243461,8146182,8136380,7669671,6871167,6587384,3768336,3487272,3422166,2790181,2612918,2582420,2551064,2303476,1902434,1698100 1601104,1580376,2290183 2159 NM_000504,AB005892,AF503510,AL137002,CH471085,L00390,L29433,M33297,BC040125,BC046125,CB158437,CR603372,CR607773,CR623031,K01886,K03194,M22613,M57285 NP_000495,BAA21634,AAM19347,CAI41385,CAI41386,EAX09184,EAX09185,AAA52764,AAA52636,AAH46125,AAA52486,AAA52490,AAA51984,AAA52421,O15095,P00742,Q5JVE7 Hs.361463 GDB:119890 FX|FXA protein-coding 1319673 F11 coagulation factor XI (plasma thromboplastin antecedent) This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. 1598923,1580863,2290183 9593722,10823824,18387979,18268095,18217146,18192270,18186617,18024374,18005151,17768109,17652512,17597996,17581330,17549289,17284699,17257616,17229051,16878977,16835901,16613788,16344560,16335952,16330457,16204896,16085935,16079124,16042419,15996948,15870541,15842381,15815621,15634276,15545266,15489334,15456490,15456480,15456479,15375170,15317813,15226185,15090552,15072993,14717969,14629467,14521595,14521591,12968031,12944405,12871398,12517745,12496253,12477932,12372819,12167623,12029092,11895778,11891231,11733491,11696542,11412111,10962009,10606881,10552949,10494760,10391209,10027710,9787168,9401068,9242536,8703832,8555184,7888672,7669672,7044446,6626744,3936495,3636155,2827746,2813350,2551064,2052060,2019570,1998667,1952475,1762944,1673289,1652157,1547342 1598923,2290183 2160 NM_000128,AB004057,AC110771,AY191837,CH471056,M18295,M20218,AF045649,BC020617,BC029374,BC034307,BC119014,BC122863,DA630863,M13142 NP_000119,BAA20295,AAY40901,AAN85554,EAX04619,EAX04620,EAX04621,AAA51985,AAC24506,AAI19015,AAI22864,AAA52487,P03951,Q9UEG0 Hs.1430,Hs.701539 GDB:119891 FXI|MGC141891 protein-coding 1348345 F11R F11 receptor Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. 1580863 10395639,11256614,18381425,18158589,18096610,18067551,18039951,18022613,17822725,17672918,17623668,17452315,16710414,16418218,16344560,16303743,16189514,15977176,15681301,15677455,15489334,15344881,15340161,15065765,14749337,14519386,12975309,12958043,12817473,12810109,12750158,12697893,12665801,12477932,12428104,12234928,12174908,12008956,11812992,11689568,11489913,11447115,11239401,11230166,11171323,11120739,11087121,10877843,10856295,10852816,10753840,10698320,7646439,2351647,12953056 50848 AF172398,AF207907,AK026665,AK075152,AL136649,AL365518,AY358896,BC001533,BT020103,CR533512,CR608619,CR617107,CR617300,DA907460,NM_016946,AF490407,AL591806,CH471121,CQ783224,CQ834196,CQ834198,AF154005,NM_144503 AAD48877,AAF22829,BAC11436,CAB66584,AAQ89255,AAH01533,AAV38906,CAG38543,Q6FIB4,Q9Y5B2,Q9Y624,ABM83154,ABM86354,NP_653086,NP_058642,AAO84556,CAI15365,EAW52677,EAW52678,EAW52680,EAW52681,EAW52682,EAW52683,CAF86420,CAH05313,CAH05314,AAD43794 Hs.709404 CD321|JAM|JAM-1|JAM-A|JAM1|JAMA|JCAM|KAT|PAM-1 protein-coding 1345372 F12 coagulation factor XII (Hageman factor) This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. 1601106,1580863,1601107,2290183 3162339,2888762,14718574,18327401,18278180,18180442,18024408,18021303,17982641,17825897,17605651,17408404,17186468,17143557,16638441,16493494,16411408,16335952,16199891,16170239,16167952,16157382,16015420,15749685,15748262,15617741,15567455,15306750,15257949,15232129,15205584,15116249,15000805,14760718,14597972,12876626,12492481,12477932,12208481,12052484,11843842,11821096,11805911,11792853,11776307,11589915,11248286,11204562,10930399,10801853,10361128,9490684,9354665,8710908,8641707,8528215,8049433,6604055,4140832,3886654,3877053,3754331,3521732,3361230,3198120,3011063,2882793,2510163,1998666,1544894,16189514 1601106,1601107,2290183 2161 NM_000505,NG_007568,AC145098,AF538691,AM262522,CH471195,L43615,M17464,M17466,U71274,U71275,U71276,U71277,U71278,AB095845,BC012390,BE139501,BT007350,CR601747,CR602253,CR616520,M11723,M13147,M31315 NP_000496,AAM97932,CAK18991,EAW85002,EAW85003,EAW85004,EAW85005,AAB59491,AAB59490,AAB51203,AAB51204,AAB51205,AAB51206,AAB51207,BAC23095,AAH12390,AAP36014,AAA51986,AAA70224,AAA70225,P00748,P78340,P78341,P78342,P78343,Q1JR85,Q8IZZ5,Q96EF3 Hs.1321 GDB:119892 HAE3|HAEX|HAF protein-coding 732286 F13A1 coagulation factor XIII, A1 polypeptide This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. 1581020,1581021,1581022,1581023,1581026,1581027,1581028,1581032,1581030,734955,1580863 2877456,10801785,2866798,2877457,18378576,18173921,18057060,18028394,18006701,18004208,18000871,17994314,17982641,17927806,17899444,17895511,17880458,17704111,17691819,17621488,17597187,17582472,17568659,17549290,17516146,17476115,17433418,17408468,17393027,17334514,17296595,17288735,17250879,17241179,17230042,17195962,17156138,17111197,17107352,17003923,16988547,16950433,16945500,17515963,17488662,16938111,16920044,16911684,16882823,16881935,16857944,16844105,16820332,16765424,16763156,16740590,16642548,16635210,16567932,16525568,16501286,16456856,16368540,16335952,16330458,16192348,16113789,16102108,15968394,15831156,15692256,15644629,15629368,15618543,15534175,15533380,15489334,15456491,15453833,15387436,15386532,15364237,15350843,15342556,15333035,15219459,15131115,15065858,14870915,14706682,14604285,14593529,12958613,12958612,12878486,12861374,12859294,12816904,12757770,12725605,12632025,12542492,12526104,12486862,12480694,12477932,12456499,12373334,12100162,12072871,11963567,11961312,11941274,11920201,11916071,11853093,11841441,11834540,11692020,11380452,11372678,11307805,11167856,11154124,11154123,10963790,10958788,10956659,10828988,10391209,10027709,9988734,9763561,9721590,9712293,9550516,9546612,9531593,9515726,9469423,8989823,8905624,8797098,8547636,7920263,7918041,7913909,7913750,7873582,7727776,7660355,4811064,3026437,2903011,2901091,2491853,2365049,2184890,2009280,1644910,1353995,16189514 1581020,1581021,1581022,1581023,1581026,1581027,1581028,1581032,1581030,734955 2162 NM_000129,A03736,AF218234,AF418272,AL133326,AL157775,AL391420,CH471087,M22001,AB208852,AK130666,BC027963,BP251770,CR597673,CR612572,CR620128,M14354,M14539 NP_000120,CAA00294,AAF65991,AAL12161,CAB99356,CAI20420,CAO03607,CAO03608,CAC36886,CAI39796,CAI39797,EAW55185,EAW55186,AAA52415,BAD92089,AAH27963,AAA52488,AAA52489,A0A2H0,P00488,Q59HA7,Q5TD18,Q9BX29,Q9NQP5,Q9NZ69,ABM84487,ABM85035,ABW03340 Hs.335513 GDB:120614 F13A coagulation factor xiiia protein-coding 1349196 F13A2 coagulation factor XIII, A2 polypeptide 2163 GDB:118793 1344690 F13A3 coagulation factor XIII, A3 polypeptide 2164 GDB:118794 1323246 F13B coagulation factor XIII, B polypeptide This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. 1580863 2334637,2866798,14718574,18006701,17702963,17691819,17515963,16945500,16335952,16241947,15892856,15634282,14702039,12477932,12456499,11816711,11313256,10391209,9531593,9037894,8922891,8905624,8847818,8797098,8756701,8466897,8324218,7873582,3471677,3021194,2877457,2563250,2491853,2413926,2339067,2271707,1549502,1359667 2165 NM_001994,AL353809,AY692223,CH471067,M64554,AK290560,M14057,X51823 NP_001985,CAH72549,AAT85802,EAW91269,AAA51821,BAF83249,AAA88042,CAA36123,P05160,AAI48334 Hs.435782 GDB:119893 FXIIIB protein-coding 1353256 F2 coagulation factor II (thrombin) Coagulation factor II is proteolytically cleaved to form thrombin in the first step of the coagulation cascade which ultimately results in the stemming of blood loss. F2 also plays a role in maintaining vascular integrity during development and postnatal life. Mutations in F2 leads to various forms of thrombosis and dysprothrombinemia. 1580340,1580362,1580342,1601108,1580863,1578509,1578508,2290183 12855810,2742826,2866798,14982929,10692450,1672265,9639571,9038223,7507931,2538457,12907439,14718574,3242619,2719946,18480081,18469551,16574759,16572609,16567932,16563366,16549163,16532157,16514238,16512831,16493484,16480903,16472842,16469858,16467413,16466010,16450127,16446869,16431900,16431184,16423600,16420563,16418283,16397131,16390788,16374139,16361766,16344560,16335952,16324093,16320685,16301339,16283309,16261289,16249980,16201098,16194196,16192348,16189694,16188774,16177630,16175009,16170289,16157382,16580898,15522964,15515881,15494418,15481892,15479893,15467917,15455078,15454250,15453833,15451770,15385813,15359390,15356875,15353918,15333035,15331602,15317594,15304039,15293282,15292803,15292227,15292065,15284075,15278388,15254687,15242552,15240970,15224376,15223011,15205587,15203717,15187864,15171737,15170396,15170393,15166939,15152000,12725641,12724616,12719795,12713146,12709363,12709053,12695749,12684661,12679134,12679024,12626602,12624627,12615788,12588872,12572596,12570104,12563219,12529766,12519104,12518110,12505789,12490286,12480694,12477932,12468767,12466191,12454577,12447960,12447958,12439145,12439143,12428084,12413582,12380673,12361205,12296757,12270302,12732212,12730108,12214157,12212242,12208422,12204058,12180730,12165293,12165282,12163491,12152677,12140089,12139755,12122980,17883702,17883698,17849049,17721328,17708272,17704111,17700999,17663729,17650440,17639874,17627684,17625574,17621506,17619828,17606451,17572893,17570509,17568659,17537363,17537362,17537304,17525392,17510305,17464285,17461935,17460706,17456629,17456626,17456624,17452895,17439630,17433691,17408404,17401546,17353498,17342369,17334934,17334933,17334320,17317888,17307838,17306151,17290027,17287626,16155788,16154434,16138347,16138341,16135581,16113792,16113789,16104949,16100725,16098865,16093732,16082606,16080493,16061406,16020118,16015425,16015153,16014310,16006096,15996400,15994914,15968394,15968387,15968383,15958894,15952132,15948766,15947552,15947551,15947254,15918665,15916503,15900364,15897196,15896772,15892865,15892853,15886801,15886665,15879922,15879303,15869586,15852745,15842380,15842353,15839991,15836797,15831156,15821810,15817447,15813553,15808373,15790048,15769747,15755869,15749685,15150075,15138112,15146467,15135449,15120696,15116266,15109703,15096570,15091001,15088159,15077257,15075325,15075078,15072993,15059842,15056097,15039440,15034798,15033664,15007309,15003896,14995996,14994919,14961151,14961148,14760718,14739624,14722067,14717975,14707415,14706682,14701945,14679197,14677182,14676252,14669613,14669168,14662632,14652651,14642534,14638877,14630828,14629473,14597977,14597244,14592559,14578033,14573785,14557872,14551154,14531916,14523451,14523329,14515183,14512389,14508198,14504875,14504098,12106474,15749677,15748243,15723247,15718300,15716659,15705565,15691154,15667542,15665002,15634277,15630502,15625161,15609280,15590403,15582995,15582990,15576297,15572256,15559724,15547928,15542598,15534175,15531855,15528884,11460008,11454529,11450488,11435632,11434686,11434083,11427721,11426488,11397354,11385320,11383586,11380448,11375993,11369682,11359462,11341749,11323021,11320983,11279932,11242801,11230792,11229520,11197244,11190900,11183183,11167771,11154146,11153741,11151062,11146461,11128675,11122096,11114134,11108900,11108898,11095555,12968031,12956845,12945887,12941034,12939270,12939269,12928694,12928685,12923451,12911579,12879654,12878585,12877676,12871600,12871361,12865818,12857557,12855811,12851538,12831060,12783117,12780409,12771861,12771857,12766367,12765295,12757770,12757241,12750382,12749008,12747590,12738509,14499592,14489469,12734676,11085290,11085288,11084577,11081681,11071624,11024046,11022077,11018168,10996659,10910914,10896248,10828960,10823824,10777524,10651742,10644723,10556651,10543954,10391209,10350471,10218588,10051558,10026263,9883900,9869612,9864377,9851866,9834200,9576847,9546612,9531249,9528953,9402754,9373149,9307032,9292507,9252393,9242537,9214615,9183005,9129030,9058715,9032460,8942648,8916933,8843739,8663147,8428004,8415716,8407908,8226803,8125298,8102368,8071320,7989361,7865694,7792730,7615164,7592664,7566121,7548163,7545318,7538844,7238875,6405779,6305407,6132925,3944102,3801671,3800906,3771562,3759958,3567158,3558361,3474786,3471151,3192535,2933256,2825773,2760054,2583108,2544585,2435757,2374926,2249780,2133223,2040612,1981025,1872862,1652157,1587268,1557383,1421398,1354985,1349838,1334372,873923,625142,266717,15109955,8503188,8457383,2015114,15707890,12097536,12088785,12083504,12082592,12070052,12070020,12069454,12069144,12068020,12067473,12058364,12057926,12048131,12044337,12042290,12038788,12038778,12038776,12023853,12023846,12008943,12008938,11999002,11998221,11983337,11967197,11961379,11956584,11943932,11927130,11886391,11869940,11861279,11858502,11858489,11858488,11843387,11836168,11828266,11821270,11820731,11806787,11796824,11790575,11776315,11776313,11748101,11741359,11739968,11738388,11738073,11734673,11734671,11734663,11718704,11718065,11697722,11694407,11687574,11686329,11686320,11684560,11683190,11676542,11673296,11583312,11583311,11583310,11568114,11532625,11529632,11522740,11506076,11487023,11471205,18462012,18457169,18452260,18412778,18392325,18387982,18387978,18387654,18383370,18378576,18368843,18362344,18350352,18342628,18333414,18327410,18327399,18292407,18285537,18284606,18278189,18278182,18277167,18275512,18253477,18246466,18235909,18225686,18220034,18217158,18198180,18192106,18191809,18182035,18176672,18160602,18160601,18160589,18160588,18160576,18089851,18070829,18067862,18064331,18057060,18030173,18022930,18004208,18000611,18000604,17987287,17984931,17982733,17968311,17963764,17962622,17958740,17922809,17918782,17911197,17897305,17895505,17890946,17278618,17230042,17245631,17208341,17189319,17159337,17156138,17155964,17113632,17111197,17107352,17106650,17100732,17097210,17090840,17067362,17059428,17020886,17008978,17003923,17002658,17000243,16988555,16981886,16981704,16973976,16963292,16961585,16950672,16938111,16917913,16906320,16906235,16882823,16881367,16839569,16839353,16830369,16825912,16823828,16818854,16817853,16796711,16791607,16778142,16765424,16761446,16753154,16711541,16708126,16708116,16680739,16677567,16651869,16649017,16635210,16630215,16607075,16601831,16601829,16595080 1580340,1580362,1580342,1601108,1578509,1578508,2290183 2147 AC115088,AF478696,AF493953,AJ544114,CH471064,M17262,S50162,AJ972449,AK222775,AK222777,AK312965,AY344793,AY344794,BC051332,CB156997,CR594467,CR617821,DB183734,M33031,NM_000506,V00595 Q86WA1,Q8TD58,NP_000497,AAL77436,AAM11680,CAD80258,EAW67977,EAW67978,EAW67979,AAC63054,AAB24476,CAJ01369,BAD96495,BAD96497,BAG35804,AAR08142,AAR08143,AAH51332,AAA60220,CAA23842,P00734,Q15253,Q16505,Q4QZ40,Q53H04,Q53H06,Q69EZ7,Q69EZ8,Q7Z7P3 Hs.655207 GDB:119894 PT protein-coding 735960 F2R coagulation factor II (thrombin) receptor Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. 1581033,1581034,1581035,1581036,1302269,728482,1580863 16606835,16409451,16407403,16359518,16354660,16354200,16341594,16194864,16141404,16087677,16052512,16021575,15923186,15891109,15878870,15869604,15860737,15821019,15769747,15755869,15707890,15626732,16709572,15625067,18278202,18174463,18089851,18005014,17935246,17895623,17883592,17823308,17721620,17675516,17623652,17492768,17470200,17414212,17384202,17376866,17374729,17373694,17347481,17323377,17303701,17294805,17267663,17015787,16952995,16946713,16839349,16837456,16803467,1672265,9038223,10692450,9701242,9639571,12761501,17848177,7961693,1851174,10477691,15582715,15563688,15561975,15559761,15550696,15548541,15545995,15522964,15489334,15455382,15383630,15313016,15280447,15247268,15191806,15183114,15099288,15078882,15045135,15023990,14982936,14966279,14961162,14642534,14632180,14623891,14521606,14507634,13680213,12975361,12883880,12832443,12805069,12789289,12737439,12707033,12637343,12594292,12586611,12563219,12534282,12522081,12505789,12477932,12406873,12372769,12370395,12195707,12084570,12058063,12052963,12039967,12023853,11986954,11964083,11907122,11888681,11816709,11278329,10978167,18384756,10922491,10644723,10583385,10391209,10079109,9207393,9102146,9058715,8982657,8955127,8824285,8621593,8395910,8395550,8290554,8136362,7834643,1310691,16189514 1581033,1581034,1581035,1581036,1302269,728482 2149 NM_001992,AC025188,AF054633,AF391809,CH471084,U35634,U63331,AK308169,AY771596,BC002464,BC016059,BC051909,BT007279,M62424,S76625 NP_001983,AAC25993,AAK69768,EAW95779,EAW95780,EAW95781,AAC50740,AAX11426,AAH02464,AAH51909,AAP35943,AAA36743,AAD14229,P25116,Q16292,Q2TNB2,Q53XV0,Q6LCF1,Q71UT7,ABM86025,ABW03766 Hs.482562,Hs.679786 GDB:127737 CF2R|HTR|PAR1|TR coagulation factor ii receptor protein-coding 733704 F2RL1 coagulation factor II (thrombin) receptor-like 1 Coagulation factor II (thrombin) receptor-like 1 (F2RL1) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL1 is also a member of the protease-activated receptor family. It is activated by trypsin, but not by thrombin. It is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. The F2RL1 gene contains two exons and is widely expressed in human tissues. The predicted protein sequence is 83% identical to the mouse receptor sequence. 1580863,735010 8615752,7556175,17848177,18047634,18028876,17854923,17845211,17727088,17699557,17693410,17675516,17675298,17623652,17591792,17581194,17571167,17470200,17452051,17405913,17384202,17373694,17347265,17328048,17205215,17203209,17203172,16925462,16820307,16714334,16691196,16650817,16525644,16498082,16478888,16476770,16470180,16410250,16359518,16336275,16195539,16096323,16095910,16091786,16079188,16027150,15905579,15882255,15879299,15869604,15843583,15809358,15665002,15654951,15585570,15537383,15492786,15489334,15489220,15482468,15475570,15356169,15280447,15140225,15102084,15010475,14767448,14760751,14657869,14585156,14519665,14507634,12925212,12874461,12867500,12832443,12805069,12792776,12754192,12630574,12604689,12540381,12534282,12527925,12506328,12506061,12479889,12477932,12397176,12372769,12370398,12370395,12195707,12171601,12139406,12123809,12003791,11907122,11714832,11692107,10978167,10831593,10439226,9639495,9446822,9133675,9020112,8784787,8703006,8601636,7937743,7568091 735010 2150 AC010621,AF400075,CH471084,U36753,Z49993,Z49994,AY336105,BC012453,BC018130,BT009856,U34038,U67058,NM_005242 NP_005233,AAK77914,EAW95782,AAA90957,CAA90290,AAP97012,AAH12453,AAH18130,AAP88858,AAB47871,P55085,Q53XJ8,ABM81892,ABM85065 Hs.154299 GDB:439124 GPR11|PAR2 proteinase-activated receptor-2, g protein-coupled receptor 11 protein-coding 1348825 F2RL2 coagulation factor II (thrombin) receptor-like 2 Coagulation factor II (thrombin) receptor-like 2 (F2RL2) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL2 is also a member of the protease-activated receptor family and activated by thrombin. F2RL2 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL2 is a cofactor for F2RL3 activation by thrombin. It mediates thrombin-triggered phosphoinositide hydrolysis and is expressed in a variety of tissues. 1580863 9087410,1851174,10477691,17376866,17347481,16458856,16046705,15850610,15582715,15504554,15489334,15254234,14515192,14507634,12953056,12805069,12757837,12732212,12692840,12477932,12370398,12037136,11714832,11544528,11307827,10788464,10766244,10409227,10079109,9722561,9716134,9639495,9618465,9614115 2151 NM_004101,AC026725,AF374726,CH471084,BC093648,BC093650,BC095499,BM989640,BX537386,U92971 NP_004092,AAK51564,EAW95778,AAH93648,AAH93650,AAH95499,CAD97628,AAC51218,O00254,Q4VBN6,Q7Z3W3 Hs.42502 GDB:9294463 PAR3 protein-coding 1351365 F2RL3 coagulation factor II (thrombin) receptor-like 3 Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL3 is also a member of the protease-activated receptor family. F2RL3 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL3 is activated by thrombin and trypsin. 1580863 15078882,15045135,14973136,14521606,13678420,12888878,12871418,12732212,12477932,12008957,12006403,11907122,11714832,10766244,10079109,9722561,9716134,10602480,10500152,9618465,10702240,1851174,10477691,17373694,17323377,16952995,16837456,15489334,15203717,15099288 9002 NM_003950,AC008737,AF384819,CH471106,AF055917,AF080214,AY431102,BC074782 NP_003941,AAK61908,EAW84566,AAC25699,AAC28860,AAR08487,AAH74782,Q96RI0 Hs.137574 GDB:9954752 PAR4 protein-coding 737354 F3 coagulation factor III (thromboplastin, tissue factor) This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. 1300308,1580863,1300309 17675290,17663729,17598015,17597988,17586694,17577783,17549302,17536017,17483700,17470200,17469034,17459125,17401435,17384202,17347408,17334638,17331567,17324918,17323935,17314141,17237436,17234207,17200764,17200762,17200119,17196206,17157899,17137581,17066404,17060476,17008590,16959886,16949034,16937466,17721619,16930953,16894464,16839353,7598447,3037536,2271516,2704749,10896200,18327399,18292391,18278195,18217146,18180609,18091328,18029910,18023707,18019946,18005233,18000605,17991872,17982314,17947506,17938822,17922809,17901245,17900273,17898544,17883595,17883594,17848177,17726162,3527261,8598903,17724132,16835245,15494427,15489334,15467908,15328160,15304041,15252050,15242552,15213854,15213840,15161741,15154603,15117736,15041276,15034796,15034795,15016732,14961150,14756558,14750502,14738565,14678810,14675093,14675092,14610342,14597990,12941032,12920028,12903530,12883669,12871349,12787023,12654807,12652293,12603864,12544727,12540946,12529356,12514112,12477932,12426405,12408769,12356487,12353085,12270558,12192302,12189027,12172458,12152682,12152652,16820938,16794185,16710414,16697385,16634740,16531802,16529959,16516912,16510984,16507316,16493499,16490369,16488980,16473535,16453151,16409465,16363246,16324758,16239598,16236262,16217771,16215234,16182846,16113838,16113798,16020745,15996056,15935832,15905465,15892865,15869604,15865421,15860742,15842359,15835921,15814630,15630487,15604222,15562024,12149215,12095134,12083501,12083487,12070020,12036889,12028585,12019261,12008961,11994566,11973337,11943929,11929768,11921018,11882315,11876644,11858480,11858185,11858183,11816709,11816707,11776298,11744662,11601848,11583305,11307801,10856975,9925787,9490735,9490681,9480775,9192667,8702971,8609606,8086403,7615158,4023720,3424286,3399965,3297348,3166978,2823875,2719931,2719077,2315317,1740409,392457 1300308,1300309 2152 CR590388,J02931,M16553,M27436,X07680,NM_001993,A19048,AC093117,AF540377,CH471097,J02846,AF487337,AF497569,AF497570,AF497571,AY940730,AY940731,BC011029,BT019808,CR541792 CAG46591,AAA61150,AAA61151,AAA36734,CAA30527,P13726,Q86SE7,Q86WH3,Q86WH4,Q8NCW7,ABM83681,NP_001984,CAA01438,AAN01236,EAW73043,EAW73044,EAW73045,AAA61152,AAO61150,AAO61151,AAO61152,AAO61153,AAH11029,AAV38611 Hs.62192 GDB:119895 CD142|TF|TFA coagulation factor 3 protein-coding 1344593 F5 coagulation factor V (proaccelerin, labile factor) This gene encodes coagulation factor V which is an essential factor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The active factor V is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. 1580361,1580362,1580372,1580373,1580130,1580340,1580863,2290183 17414217,17413905,17408404,17401546,17353498,17334320,17317888,17307838,17306151,17290027,17287628,17287626,17284699,17278618,17264942,17230042,17206678,17200768,17159337,17156138,17155964,17139368,17126308,17113632,17111197,17107352,17106650,17100732,17097210,17090840,16635210,16630215,16613994,16607075,16601831,16601830,16595080,16574759,16572609,16567932,16563366,16549163,16542711,16532157,16518527,16514238,16512831,16496494,16484835,16472842,16469858,16466010,16446869,16444434,16439508,16437692,16431900,16431184,17067362,17059428,17020886,17008978,17008284,17003923,17000243,16981886,16973976,16963292,16938111,16935856,16917913,16906320,16906235,16889993,16882823,16881367,16877827,16875034,16839569,16839353,16830369,16825912,16823828,16818854,16807645,16791607,16781765,16773503,16772740,16772736,16765424,16761446,16758522,16753154,16683219,16681418,16680739,16680712,16677567,16651869,9252393,2538457,3052293,6946465,14982929,14718574,18480081,18469551,18462012,18457169,18452260,18449423,18412778,18404788,18392325,18387982,18387978,18387654,18368843,18350352,18350351,18342013,18333414,18327399,18290335,18290319,18285537,18284606,18277167,18275512,18253477,18248600,18246466,18235909,18225686,18220034,18217158,18198180,18195191,18192108,18192106,18191809,18182036,18182035,18180619,18378576,18176672,18160617,18160602,18160599,18160589,18160588,18070829,18064331,18057060,18030173,18028481,18022930,18004208,18000607,17994314,17984931,17982733,17982311,17973648,17963764,17955280,17949476,17944989,17918782,17911197,17897305,17895505,17890946,17883698,17849062,17849061,17849060,17849041,17721328,17708272,17704111,17700999,17677000,17650440,17649708,17646160,17641719,17640947,17639874,17627684,17625574,17619828,17606451,17605877,17582472,17582408,17572893,17568659,17565236,17555744,17553804,17549437,17537363,17537362,17537304,17525392,17510305,17460706,17456629,17456626,17456624,18160601,17452895,17439630,17426795,15096570,15091001,15088159,15077257,15076187,15075078,15065883,15056097,15054398,15045132,15045131,15033664,15009459,15007309,15004010,15003896,14996674,14994919,14976057,14963283,14746952,14720616,14711617,14707415,14706682,14701945,14697963,14695241,14691564,14689680,14677182,14673478,14669613,14669168,14662632,14660667,14656900,14656739,14652651,14638877,14629466,14597978,14597977,14597244,14580166,14578033,14574075,16113789,16098865,16093732,16082606,16080493,16061406,16052395,16015421,16015408,16015153,16014310,16006096,15996400,15994914,15978566,15978104,15978097,15975136,15968394,15968383,15961511,15958894,15948766,15947552,15947551,15947254,15921597,15918665,15918268,15916503,15912114,15910861,15905108,15900364,15897196,15896772,15886801,15886665,15879922,15869586,15852745,15842353,15836797,15831156,15821810,15820946,15815078,15813553,15808373,15790048,15776863,15749685,15748245,15748243,15748232,15746660,15735794,15723247,15716659,15691154,15678277,15676177,15670517,15670066,15670043,15670037,15667542,15641797,15636441,15634288,15630502,15625161,15618258,15609280,15592740,15590403,15583744,15576297,15559724,15547928,15539375,15534175,15531855,15528884,15515881,16420563,16423600,16411392,16397131,16390788,16374139,16369102,16361766,16359589,16353042,16344560,16335952,16330459,16324093,16320685,16301860,16301339,16266408,16263699,16261289,16249980,16235188,16201098,16194196,16192348,16188774,16186475,16177630,16170289,16157382,16155788,16154434,16138347,16138341,16135581,16113830,16113792,15479893,15467293,15454250,15453833,15452129,15450391,15385813,15359390,15356875,15353918,15347660,15337738,15333035,15331602,15309526,15306751,15304039,15293282,15292803,15278388,15247984,15247980,15240970,15224376,15223011,15187864,15171737,15170396,15170393,15166939,15166921,15150075,15147718,15146467,15140126,15135449,15134454,15131548,15120696,15118525,15116266,15109703,15097012,14559913,14555316,14551147,14531916,14529318,14523329,14515183,14512389,14508198,14507111,14504875,14501610,12964021,12960604,12958611,12956845,12945887,12928694,12928685,12923451,12906030,12899665,12879654,12878157,12877676,12871600,12871356,12871325,12869495,12865283,12861956,12859287,12857557,12851538,12817161,12816860,12792424,12791034,12788947,12783110,12780409,12771861,12766367,12765305,12757770,12757640,12757241,12752105,12749008,12747593,12747590,12742330,12738785,12738509,12725641,12724616,12717434,12713146,12709363,12695749,12679134,12651267,12632020,12628278,12624627,12624626,12624624,12615788,12604422,12600914,12598443,12579498,12578864,12572596,12570104,12544728,12529766,12519104,12518110,12514663,12480694,12477932,12468767,12468175,12454577,12447960,12439143,12434659,12428084,12418950,12413582,12393635,12393556,12393490,12384508,12380673,12379114,12368162,12353074,12296757,12270302,12239164,12221665,12214157,12208422,12200374,12195688,12180730,12165290,12165282,12163491,12152677,12138364,12122980,12115343,12107410,12101832,12100159,12097536,12091346,12091344,12088785,12083504,12082592,12070000,12069454,12069143,12067913,12063259,12057557,12044337,12042290,12038802,12038778,12038776,12013685,12008938,11999002,11998221,11983337,11976977,11961379,11960573,11958494,11953127,11950065,11943934,11943931,11929802,11920167,11891805,11887980,11886391,11877263,11872951,11869940,11859850,11858502,11858490,11858477,11849222,11848454,11843387,11836168,11828266,11821292,11821270,11820731,11820306,11816705,11814362,11806843,11806787,11781222,11776341,11776127,11761087,11748101,11741359,11739968,11738388,11738073,11734673,11734663,11726323,11718065,11697722,11694407,11685046,11683190,11596779,11595480,11595479,11583312,11578716,11568114,11532625,11529695,11529632,11523408,11522740,11522037,11506076,11502996,11472046,11471205,11460958,11454529,11435632,11434083,11426488,11406725,11397354,11385320,11374681,11372668,11372667,11346337,11341749,11341494,11334615,11331645,11323021,11321143,11320983,11315119,11311153,11305729,11279932,11260012,11259157,11246546,11242801,11229520,11197244,11187029,11183183,11156651,11151062,11146461,11128675,11127862,11127850,11122103,11122102,11122096,11115343,11114134,11108900,11108898,11095555,11093465,11091190,11085290,11084577,11076863,11071624,11057878,11057877,11056246,11022077,11018168,11014961,10993493,10593904,10586886,10521265,10502835,10494770,10391209,10026263,9525959,9454742,9454741,9242537,9079657,9032460,8713778,8454869,8428962,8216224,8204629,8164741,7989361,7911873,7874144,7076681,3220473,3110773,3092220,2827731,2303476,2168225,1615482,1567832,9718313,9525969 1580361,1580362,1580372,1580373,1580130,1580340,2290183 2153 NM_000130,AF119360,AF285083,AY046060,AY136818,AY364535,CH471067,DQ019941,DQ357212,DQ357213,DQ357214,DQ377944,L32755,L32779,Z99572,AJ297254,AJ297255,AK226079,AK291613,AU279657,CA395604,CB164139,CR626632,DB182033,M14335,M16967,M94010 NP_000121,AAF32515,AAG30113,AAL09164,AAN12307,AAQ55063,EAW90849,AAY85741,ABC96776,ABC96777,ABC96778,ABD23003,AAB59401,CAB16748,CAI23065,CAC82572,CAC82573,BAF84302,AAB59532,AAA52424,AAA52416,P12259,Q15430,Q1L610,Q2EHR5,Q2HZY9,Q2HZZ0,Q2HZZ1,Q5R346,Q5R347,Q8IUL1,Q8TD21,Q8WWQ6,Q8WWQ7,Q9HB27,Q9P1A8,AAI11462,AAI11589,AAI11930 Hs.30054 GDB:119896 FVL|PCCF protein-coding 1345586 F7 coagulation factor VII (serum prothrombin conversion accelerator) This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Alternative splicing of this gene results in 2 transcripts. Defects in this gene can cause coagulopathy. 1580374,1580375,1580376,1580863,1601133,2290183 3037537,7598447,3527261,8598903,8639673,2271516,18457169,18403734,18398422,18325076,18292410,18292408,18284606,18253477,18220034,18180609,18156490,18064331,18030173,18000605,18000604,18000603,17991872,17938822,17938795,17901076,17890943,17883708,17880564,17849063,17692102,17675296,17663738,17606459,17596133,17581323,17488662,17470200,17459125,17456045,17440998,17403098,17384202,17327234,17292373,17287630,17202767,17200119,17092304,17059418,17048007,17044869,17018600,17008590,17003923,16948532,16914903,16882823,16839353,16835245,16807660,16687401,16676068,16614319,16596941,16580898,16556685,16543963,16532678,16529959,16510984,16472842,16363246,16353042,16344560,16331575,16292673,16236263,16204244,16194204,16116695,16100725,16091654,16049588,15978118,15968394,15968393,15952268,15893284,15869604,15842378,15842358,15837082,15835921,15735798,15718364,15711754,15634284,15634274,15632123,15621215,15616124,15613046,15604416,15590402,15543320,15469874,15456489,15452029,15386437,15351855,15351850,15339682,15304047,15213840,15175795,15173027,15170085,15081566,15057823,15016732,14963283,14766762,14756558,14750502,14746139,14733777,14691565,14592825,14521602,12941034,12935410,12888866,12871600,12871370,12871323,12859287,12851844,12787023,12768436,12738672,12676783,12616980,12615788,12579498,12529745,12524237,12506121,12486862,12482354,12446192,12428092,12428089,12358603,12356487,12208482,12152685,12152682,12151156,12141403,12135351,12091048,12083486,12082592,12038786,12019261,11943935,11931672,11920218,11916081,11858502,11858478,11848442,11776298,11698657,11593034,11562337,11560488,11555697,11470437,11397354,11334615,11129332,11091194,11044420,10984565,10877552,10862079,10692465,10544046,10430872,10419671,10391209,10026263,9925787,9819044,9692950,9576180,9242537,8883260,8844208,8652821,8647260,8576177,8364544,8242057,8204879,7989361,7981691,7974346,7860081,7814421,7559437,3487272,3486420,3264725,2511201,2248955,2129367,2070047,1904059,1634227,14743216 1580374,1580375,1580376,1601133,2290183 2155 NM_000131,NM_019616,AF466933,AL137002,AY212252,CH471085,DQ142911,J02933,U14580,U40852,AI076552,AY423856,BC130468,CB156039,DB184045,EF421855,EU557239,M13232 NP_000122,NP_062562,AAL66184,CAI41381,CAI41382,AAP33841,EAX09182,EAX09183,ABD17891,AAA51983,AAC50211,AAQ94106,AAI30469,ABN79862,ACB87203,AAA88040,AAA88041,P08709,Q5JVF1,Q6TDG2,Q96PQ8,Q9UD52,Q9UD53,Q9UD54,Q9UMU6 Hs.36989 GDB:119897 protein-coding 1346706 F7R coagulation factor VII regulator 3410461,6714981 2156 GDB:119898 1343567 F8 coagulation factor VIII, procoagulant component (hemophilia A) This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. 1582359,1582371,1582360,1582357,1580863,2290183 7756647,8275087,501196,8626656,14718574,2110473,18459951,18457169,18388498,18387975,18371166,18371163,18327416,18292408,18277139,18217193,18217134,18217133,18184865,18166789,18162457,18160577,18064310,18024377,18000609,18000608,17973851,17958750,17958741,17944985,17927806,17916745,17890957,17849066,17848617,17846507,17823971,17650078,17636198,17610549,17502612,17498085,17498081,17445092,17349154,17342157,17334514,17287628,17209060,17119108,17116206,16956829,16953272,16953269,16894464,16894461,16839343,16823491,16805874,16786531,16769589,16732372,16628729,16601852,16601827,16569771,16513639,16487577,16380445,16339403,16335952,16270627,16128892,16102111,16088320,16086318,16042406,16038719,16020776,15996947,15946216,15921397,15913649,15886209,15869621,15824541,15810915,15735796,15735794,15710596,15705787,15682412,15670040,15660987,15634269,15550021,15471879,15459008,15456493,15353485,15304045,15236327,15213843,15202164,15073030,14961153,14764590,14722121,14717992,14684146,14675089,14644079,14629470,14629468,14521595,14517489,12969981,12958606,12930394,12871600,12871415,12857556,12768323,12719775,12719774,12717434,12617176,12615788,12614369,12578706,12574801,12567191,12522143,12477932,12428094,12426309,12412575,12406074,12368162,12358922,12351418,12325022,12220193,12204009,12203998,12201837,12199686,12195713,12154809,12091341,12058364,12041568,12036878,11864712,11858487,11857744,11848452,11848448,11830468,11799130,11776297,11769673,11748850,11739969,11737010,11722428,11673296,11574539,11554935,11442647,11442643,11410838,11396323,11391716,11341489,11298607,11278963,11128113,11122386,11091190,11057857,11027931,10910913,10910910,10896236,10886198,10800171,10691849,10612839,10554831,10521497,10404764,10350471,10338101,9886318,9834200,9829908,9792405,9759621,9603440,9569189,9569180,9525969,9450898,9341862,9326186,9305856,9218428,9029040,8759905,8698347,8644728,8639447,8449505,8322269,7893714,7794769,7759074,7728145,7620160,7613471,7579394,6438528,6438526,3935400,3134349,3122181,3013509,3012775,2987704,2896159,2835904,2833855,2565080,2510835,2506948,2499363,2498882,2495245,2491949,2107542,2106480,2105906,2105106,2104766,1973901,1939075,1924291,1908817,1908096,1902642,1898735,1851341,1761551,1639429,1554716,1427887,1356412,1349567,1303178,1301960,1301932,1301194,16189514,11418455 1582359,1582371,1582360,1582357,2290183 2157 DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,DQ173614,DQ173615,DQ173616,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173607,NM_019863,NM_000132,NG_005114,AC109993,AF081784,AF168366,AJ131818,AY769950,BX470111,BX842559,BX842564,BX890586,CH471172,DQ173562,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173598,DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,M88648,U80228,AK289947,AK292902,BC022513,BC064380,BC098389,DQ173632,BC111967,BC111969,BI547023,K01740,M14113,M90707,X01179 ABC25807,ABC25812,ABC25817,ABC25822,ABC25827,ABC25832,ABC25837,ABC25842,ABC25847,ABC25852,ABC25857,ABC25862,ABC25867,ABC25872,ABC25877,ABC25882,ABC25887,ABC25892,ABC25897,ABC25902,ABC25907,ABC25912,ABC25917,ABC25922,NP_063916,NP_000123,AAC32196,AAD50437,CAB40351,AAV85964,CAI41660,CAI41672,CAI41666,EAW72645,EAW72646,EAW72647,ABB58721,ABC25733,ABC25738,ABC25743,ABC25748,ABC25753,ABC25762,ABC25767,ABC25772,ABC25777,ABC25782,ABC25787,ABC25792,ABC25797,ABC25802,ABC25927,ABC25932,ABC25937,ABC25942,ABC25947,ABC25952,ABC25957,ABC25962,ABC25967,ABC25972,ABC25977,ABC25982,AAA52420,AAB61261,BAF82636,BAF85591,AAH22513,AAH64380,AAH98389,AAI11968,AAI11970,AAA52484,AAA52485,AAA58466,CAA25619,A0A2G2,A0A2G3,A0A2G4,A0A2G5,A0A2G6,A0A2G8,A0A2G9,A0FJ18,A0FJ19,A0FJ20,P00451,Q003U9,Q003V0,Q003V2,Q003V3,Q003V4,Q003V5,Q003V6,Q003V7,Q003V8,Q003V9,Q003W0,Q003W2,Q06DL6,Q06DL7,Q06DL8,Q06DL9,Q0GE96,Q14286,Q2VF45,Q4V303,Q5HY69,Q71UI6,Q9UMZ8,Q9UQQ5,AAI66700 Hs.654450 GDB:119124 AHF|DXS1253E|F8 protein|F8B|F8C|FVIII|HEMA protein-coding 1342562 F8A1 coagulation factor VIII-associated (intronic transcript) 1 This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is transcribed in the direction opposite of factor VIII. A portion of intron 22 (int22h), containing F8A, is repeated twice extragenically closer to the Xq telomere. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. 16482509,16381901,15687285,15489336,15489334,15009463,12477932,11256614,11076863,11035034,8528212,2110545,1639415,1427887,16513639 8263 NM_012151,NG_005114,AY619999,BX842559,CH471172,M34677,X86012,AL556125,BC039693,BC071963,CR598080,CR599867,CR599936,CR602309,CR602783,CR603094,CR615103,CR617701,CR621707,CR621827,CR623398,CR624283 NP_036283,AAT44606,CAI41669,EAW72648,AAA35713,AAH39693,AAH71963,P23610,CAL38350,CAL38611,ABM87666 Hs.533543,Hs.593687 DXS522E|F8A|HAP40 protein-coding 1346624 F8A2 coagulation factor VIII-associated (intronic transcript) 2 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. 15687285,8528212 474383 NM_001007523,NG_005114,AY620000,BX682237,CH471172,BC039693,BC071963,CR598080,CR599867,CR599936,CR602309,CR602783,CR603094,CR615103,CR617701,CR621707,CR621827,CR623398,CR624283 NP_001007524,AAT44607,CAI41333,EAW72648,AAH39693,AAH71963,P23610 Hs.533543,Hs.593687 protein-coding 1349354 F8A3 coagulation factor VIII-associated (intronic transcript) 3 This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. 11256614,15687285,8528212 474384 CH471172,BC039693,BC071963,CR598080,CR599867,CR599936,CR602309,CR602783,CR603094,CR615103,CR617701,CR621707,CR621827,CR623398,CR624283,NM_001007524,NG_005114,AY620001 EAW72648,AAH39693,AAH71963,P23610,AAI56293,NP_001007525,AAT44608 Hs.533543,Hs.593687 protein-coding 735620 F9 coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. 1300357,1580376,1300310,1580863,2290183 17308903,17230038,17048007,17014892,16939230,16839351,16766524,16517611,16322469,16102111,15921378,15913649,15866866,15842381,15829482,15772651,15643612,15634274,15590401,15581349,15489334,15456490,15383460,15328360,15326167,15219198,15183040,15039440,15009460,14963035,14722079,14660587,14629468,14567539,14532267,14521595,12871503,12871416,12824704,12768436,12604421,12588353,12570162,12522212,12522143,12513796,12496253,12477932,12192300,12167623,12152682,12105230,12070021,12036878,11925427,11891231,11830468,11754413,11754103,7981722,7713897,7606779,7547952,6959130,6688526,6687940,6603618,6425296,6329734,6320191,6287289,6089357,3857619,3790720,3416069,3401602,3340835,3243764,3009023,2994716,2875754,2775660,2773937,2753873,2743975,2738071,2714791,2713493,2592373,2511201,2372509,2352926,2339358,2248955,2162822,2129367,2040636,1958666,1902289,1854745,1634040,1615485,1517205,1346975,1304885,922557,659613,237463,11736930,2472424,7598447,8626656,14718574,2110473,18293119,18192270,17985356,17882724,17563121,17414217,17397055,11583320,11396323,11278963,11133752,11122405,11122099,10698280,10467148,10391209,10094553,9834200,9655178,9600455,9590153,9222764,9047312,8855310,8833911,8680410,8663165,8392713,8295821,8257988,8236150,8199596,8172892,8076946,7987222 1300357,1580376,1300310,2290183 2158 NM_000133,A01819,A07407,A14017,AF486577,AF536327,AL033403,AY226143,AY269424,AY269425,CH471150,DQ431774,DQ431775,DQ431776,DQ431777,DQ431778,DQ431779,DQ431780,DQ431781,DQ431782,DQ431783,DQ431784,DQ431785,DQ431786,DQ431787,DQ431788,DQ431789,DQ431790,DQ431791,DQ431792,DQ431793,DQ431795,DQ431796,DQ431797,DQ431798,DQ431801,DQ431802,DQ431803,DQ431804,DQ431805,DQ431806,DQ431807,DQ431808,DQ431809,DQ431810,DQ431811,DQ431812,DQ431813,DQ431814,DQ431815,DQ431816,DQ431817,DQ431818,DQ431819,DQ431820,DQ431821,DQ431822,DQ431823,DQ431824,DQ431839,DQ431840,K02053,K02402,M19063,S66752,S68634,X55008,AB186358,AK292749,BC109214,BC109215,J00136,J00137,M11309,M35672,DQ431825,DQ431826,DQ431827,DQ431828,DQ431829,DQ431830,DQ431831,DQ431832,DQ431833,DQ431834,DQ431835,DQ431836,DQ431837,DQ431838,A13997 NP_000124,CAA00205,CAA00665,CAA01141,AAM96188,CAI42103,AAO73937,AAP34372,AAP34373,EAW88431,EAW88432,EAW88433,EAW88434,ABF68963,ABF68964,ABF68965,ABF68966,ABF68967,ABF68968,ABF68969,ABF68970,ABF68971,ABF68972,ABF68973,ABF68974,ABF68975,ABF68976,ABF68977,ABF68978,ABF68979,ABF68980,ABF68981,ABF68982,ABF68984,ABF68985,ABF68986,ABF68987,ABF68990,ABF68991,ABF68992,ABF68993,ABF68994,ABF68995,ABF68996,ABF68997,ABF68998,ABF68999,ABF69000,ABF69001,ABF69002,ABF69003,ABF69004,ABF69005,ABF69006,ABF69007,ABF69008,ABF69009,ABF69010,ABF69011,ABF69012,ABF69028,ABF69029,AAA56822,AAB59620,AAA52456,AAB28588,AAB29758,CAB38245,BAD89383,BAF85438,AAI09215,AAI09216,AAA98726,AAA52763,AAA52023,AAA51981,P00740,Q14316,Q19UG1,Q19UG2,Q19UG3,Q19UG4,Q19UG5,Q19UG6,Q19UG8,Q19UG9,Q19UH5,Q19UH6,Q19UH8,Q19UH9,Q19UI1,Q19UI2,Q19UI3,Q19UI4,Q19UI5,Q19UI6,ABF69014,ABF69015,ABF69016,ABF69017,ABF69018,ABF69019,ABF69020,ABF69021,ABF69022,ABF69023,ABF69024,ABF69025,ABF69026,ABF69027,ABF69013,Q19UJ0,Q19UJ1,Q19UJ4,Q19UJ5,Q19UJ6,Q19UJ7,Q19UJ9,Q19UK0,Q19UK3,Q19UK4,Q19UK5,Q19UK6,Q19UK8,Q19UK9,Q19UL0,Q19UL1,Q19UL3,Q19UL5,Q19UL6,Q19UL8,Q19UM0,Q19UM1,Q19UM2,Q5FBE1,Q7Z7N0,Q7Z7N1,Q86XR9,CAA01140,AAI46407 Hs.522798 GDB:119900 FIX|HEMB|MGC129641|MGC129642|PTC coagulation factor 9 protein-coding 1318772 FA2H fatty acid 2-hydroxylase Sphingolipids are a large class of lipids found in all eukaryotic cells and are involved in numerous cellular processes. The structural diversity of sphingolipids stems from more than 300 distinct head groups, as well as from modifications of the hydrophobic ceramide moiety. FA2H catalyzes a common modification of the ceramide moiety: hydroxylation at the 2 position of the N-acyl chain. Sphingolipids containing 2-hydroxy fatty acid are common in nervous and epidermal tissue. Glycoshingolipids containing a high proportion of 2-hydroxy fatty acid are critical components of myelin, and several very long chain ceramides with 2-hydroxy fatty acids are important for the permeability barrier function of epidermis (Alderson et al., 2004 [PubMed 15337768]).[supplied by OMIM] 737633 17355976,16713569,15337768,12477932 737633 79152 NM_024306,AC004685,AC009132,CH471114,AJ278219,AK058016,BC002679,BC004263,BC010453,BC017049 NP_077282,AAC23496,EAW95677,EAW95678,CAC20436,BAB71632,AAH02679,AAH04263,AAH10453,AAH17049,Q6PJW2,Q7L5A8 Hs.461329 FAAH|FAH1|FAXDC1|FLJ25287|SCS7 protein-coding 737052 FAAH fatty acid amide hydrolase This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. 1625726,1300311,1625741,1580863 10431820,9122178,18295974,18068305,17991615,17962356,17712725,17621164,17553686,17449448,17290447,17216208,17065342,16972078,16710414,15809662,15721218,15489334,15254019,15219977,14657172,12799380,12665801,12556536,12477932,12153574,12060782,12008024,11818522,11390466,11352748,10806398,10788462,10036136,9878243,9871570,9822713,9790682 1625726,1300311,1625741 2166 NM_001441,AF098019,AL122001,AY842444,AL050372,BC034478,BC093632,BC110404,BC111941,BG718115,CR611548,CR612908,U82535 NP_001432,AAD13768,CAI21960,AAV88095,CAB62530,AAH93632,AAI10405,AAI11942,AAB58505,O00519,Q9UG55 Hs.163424 GDB:9032975 FAAH-1|MGC102823|MGC138146 protein-coding 1603557 FAAH2 fatty acid amide hydrolase 2 Fatty acid amide hydrolases, such as FAAH1 (FAAH; MIM 602935) and FAAH2, hydrolyze primary fatty acid amide substrates (e.g., oleamide) and may play a role in fatty acid catabolism (Wei et al., 2006 [PubMed 17015445]).[supplied by OMIM] 17015445,14702039,12477932 158584 AK055766,BC048279,BC073922,EU285560,NM_174912,AL590394,AL606754,AL928898,CH471154,Z83745,AF086253 BAB71007,AAH48279,AAH73922,ABZ79724,Q6GMR7,NP_777572,EAW93245 Hs.496205,Hs.708981 AMDD|FAAH-2|FLJ31204|RP11-479E16|RP11-479E16.1 protein-coding 736881 FABP1 fatty acid binding protein 1, liver FABP1 encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP1 and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. 1580863,1626441,1626440 9250612,18094680,17826730,17698986,17605029,17526850,17485234,17003471,16945373,16772708,16249547,16175609,15547295,15489334,15308127,15249972,14563446,12646418,12477932,12121132,11461829,11354243,11226238,10684629,9688651,9070383,8232272,7784447,3838313,3838309,3012800,2824476,1699834,16189514 1626441,1626440 2168 NM_001443,AC092836,CH471215,BC022287,BC032801,CR542090,CR590669,CR612744,M10050,M10617 NP_001434,AAX88905,EAW77075,EAW77076,AAH22287,AAH32801,CAG46887,AAA52418,AAA52419,P07148,Q05CP7,Q6FGL7 Hs.380135 GDB:119126 FABPL|L-FABP fatty acid binding protein 1 protein-coding 1346124 FABP10 fatty acid binding protein 10 337952 AF254642 GDB:11510836 735842 FABP2 fatty acid binding protein 2, intestinal The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Intestinal fatty acid-binding protein 2 gene contains four exons and is an abundant cytosolic protein in small intestine epithelial cells. This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele. Thr-54 protein is associated with increased fat oxidation and insulin resistance. 1300312,1582392,1300313,1300314,1580863,1578456,1578455,1626400,1578458,1578457,1626401,1626413,1626412,1626407,1626414 2824476,7883976,18422024,18282109,18280114,18065580,17992640,17960769,17921407,17914506,17907115,17684408,17633563,17605029,17594477,17512303,17447159,17383953,17343826,17310796,17292994,17212611,17211557,17209184,17143557,16945373,16919542,16908951,16809903,16733910,16718632,16718625,16679929,16289894,16276364,16249461,16013194,16002819,15869758,15776585,15764642,15620432,15598690,15572430,15547295,15527447,15489334,15177133,15159243,15135268,15135251,14981227,14686962,14666368,14650352,14605999,14567680,14563446,12899384,12855223,12809489,12691171,12634920,12477932,12377750,12370850,12189904,12161503,12079887,11866034,11730822,11707533,11699048,11606480,11555846,11423496,11385507,11299043,11288045,10946885,10856711,10070036,9806794,9250601,9204553,8954037,8454101,8401509,3838313,2263509,2193826,1740333 1300312,1582392,1300313,1300314,1578456,1578455,1626400,1578458,1578457,1626401,1626413,1626412,1626407,1626414 2169 NM_000134,AC092656,CH471229,M18079,AK025079,BC069466,BC069617,BC069625,BC069637,BC111791 NP_000125,EAW73666,AAA52417,AAH69466,AAH69617,AAH69625,AAH69637,AAI11792,P12104 Hs.282265 GDB:119127 FABPI|I-FABP|MGC133132 fatty acid binding protein 1 2289563 BW441_H protein-coding 69087 FABP3 fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. 1582401,1580863 7962070,18469019,18437121,18412949,18159110,18021874,17826730,17721027,17289870,16710414,16429158,15489334,15459486,15068254,12872269,12721663,12477932,8661024,8326460,8262516,7922029,7757968,7691977,7498159,3421901,2266970,2266954,2040092,1710107,1526991 1582401 2170 AL451070,CH471059,U17081,U57623,AI494244,BC007021,BT006727,CR456867,S67314,X56549,Y10255,NM_004102 NP_004093,CAH71850,EAX07618,EAX07619,AAC99800,AAB02555,AAH07021,AAP35373,CAG33148,AAB29294,CAA39889,CAA71305,P05413,Q6IBD7,ABM84080,ABM87448 Hs.657242 GDB:128008 FABP11|H-FABP|MDGI|O-FABP fatty acid binding protein 3 protein-coding 1346986 FABP3P2 fatty acid binding protein 3, pseudogene 2 9256083 56677 NG_001286,AL136527,AL138703,U72237 GDB:10796788 FABP3-ps|FABP3P pseudo 733453 FABP4 fatty acid binding protein 4, adipocyte FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. 737747,1625411,1625407,1625406,1625408,1580863 2481498,17353931,16130169,18024526,17826730,17553506,17535427,17425064,17396233,17322100,16952017,16750515,16641093,16313911,15734831,15489334,15456755,15168018,15015141,12477932,12417276,10318917,9204877,9070383,8463311,7784447,1648089,1304913 737747,1625411,1625407,1625406,1625408 2167 NM_001442,AC018616,CH471068,BC003672,BQ880795,BT006809,CD000452,CR456903,J02874 NP_001433,EAW87092,AAH03672,AAP35455,CAG33184,AAA51689,P15090,Q6IBA1 Hs.391561 GDB:128030 A-FABP fatty acid binding protein 4 protein-coding 736313 FABP5 fatty acid binding protein 5 (psoriasis-associated) This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. 1580863 8092987,12839573,1512466,16130169,16806233,16759896,15592455,15489334,15335354,12665801,12049637,11113456,10493790,10331666,10191275,9438903,9373149,9285630,8947466,8726632,8427590,8125298,1286667,16189514,17353931,12477932 2171 NM_001444,AC009902,CH471068,AK226036,BC019385,BC070303,BT007449,M94856 NP_001435,EAW87088,AAH19385,AAH70303,AAP36117,AAA58467,Q01469,ABM82211,ABM85396 Hs.408061 GDB:136450 E-FABP|EFABP|PA-FABP|PAFABP fatty acid binding protein 5, epidermal protein-coding 1352996 FABP5L1 fatty acid binding protein 5-like 1 387934 NG_006997,AL354720 FABP5 pseudo 1345237 FABP5L2 fatty acid binding protein 5-like 2 729163 XM_001132811,XM_001721172,XM_001134012,AL138821 XP_001132811,XP_001721224,XP_001134012 protein-coding 1347750 FABP5L3 fatty acid binding protein 5-like 3 (pseudogene) 220832 NR_002935,AC005631,CR621082 Hs.647108 fatty acid binding protein 5-like 3 pseudo 1346394 FABP5L4 fatty acid binding protein 5-like 4 404766 1349159 FABP5L5 fatty acid binding protein 5-like 5 404767 1353302 FABP5L6 fatty acid binding protein 5-like 6 404768 1343684 FABP5L7 fatty acid binding protein 5-like 7 728641 XM_001128089,XM_001718375,XM_001127657,AP000640 XP_001128089,XP_001718427,XP_001127657 Hs.632112 protein-coding 1344672 FABP5P1 fatty acid binding protein 5, pseudogene 1 266699 NG_002376,AP000547 GDB:11510742 pseudo 737077 FABP6 fatty acid binding protein 6, ileal (gastrotropin) This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. 1580863 9250612,7588781,17909007,17266179,16951225,16237211,15936983,15489334,14702039,14654244,12486725,12477932,10806391,10514450,8805562,8527237,7894165,7619861,16189514,10583385 2172 NM_001040442,NM_001445,AC008609,AC112191,AJ250902,AJ276802,CH471062,AI208231,BC022489,DQ132786,U19869,X90908 NP_001035532,NP_001436,CAB65728,CAC81780,EAW61563,EAW61564,EAW61565,EAW61566,AAH22489,ABA12611,AAB82751,CAA62415,P51161,Q07DR7,Q8IUB1 Hs.519719 GDB:456104 I-15P|I-BABP|I-BALB|I-BAP|ILBP|ILBP3|ILLBP fatty acid binding protein 6 protein-coding 1353760 FABP7 fatty acid binding protein 7, brain The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid binding proteins (FABPs) are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs are thought to play roles in fatty acid uptake, transport, and metabolism. 1580863 9375786,9250612,17898869,17646957,17415524,16623952,15827123,15489334,14702039,14574404,12975368,12771203,12612091,12479569,12477932,10854433,10497880,9591779,9242429,8833192,8798739 2173 NM_001446,AL645811,CH471051,AI879148,AJ002962,AK091664,AK289836,AL512688,AW156936,BC012299,BI860090,CR457057,D50373,D88648,U51338,U81235 NP_001437,CAI15448,CAI15449,EAW48165,EAW48166,EAW48167,CAA05773,BAF82525,CAC21646,AAH12299,CAG33338,BAA23324,BAA23645,AAB87141,AAD00507,O15540,Q9H047,ABM82363,ABM85539,ABW03402 Hs.26770 GDB:9798392 B-FABP|BLBP|DKFZp547J2313|FABPB|MRG protein-coding 1343200 FABP9 fatty acid binding protein 9, testis 634410 7958448 634410 646480 NM_001080526,AC018616,CH471068,DQ821473 NP_001073995,EAW87091,ABG49443,Q0Z7S8,AAI52781 Hs.653176 GDB:9798393 PERF|PERF15|T-FABP protein-coding 1345195 FADD Fas (TNFRSF6)-associated via death domain The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. 1580863,2292150 12107169,12037669,11975981,11965497,11877464,11859150,11828002,11805265,11753396,11752160,11740202,11739185,11717445,11395500,11376335,11353862,11135621,11034606,11002422,10911999,10848577,10825539,10640736,10493725,10442631,10235259,9990010,9774341,9582077,9521326,9430227,9215629,9208847,9045686,9037025,8967952,8955195,8565075,16189514,15659383,15782135,15761471,15665818,7538907,7536190,12761501,14644197,8681376,9721089,10894160,12887920,18174230,17977957,17975136,17911615,17656375,17511679,17235653,17031492,16937440,16871589,16844082,16762833,16710361,16538383,16528386,16450001,16410793,16339514,16289096,16258269,16227629,16177127,16127453,16109772,16061179,16006552,16003390,15956881,15916534,15849201,15778222,15688372,15645452,15601308,15489334,15485835,15452120,15452117,15383280,15280356,15207703,15173180,15034549,14573612,12954630,12911633,12851487,12815462,12721308,12702765,12702723,12684039,12604344,12499380,12496482,12482751,12477932,12235128,12220669,12198154,12196516,12122017,9326610,12796506,11112409 2292150 8772 AP000879,CH471076,DQ449938,U62022,U74301,AK291005,AL575732,AY423721,BC000334,BC025733,BT006927,CR456738,CR591208,CR593101,CR593331,CR595812,CR596013,CR599691,CR600474,CR605817,CR607000,CR608391,CR610334,CR615437,CR616686,CR621957,U24231,X84709,NM_003824 Q6LCB0,Q6LCG1,ABW03636,NP_003815,EAW74760,EAW74761,EAW74762,ABD96828,AAB58469,AAB58483,BAF83694,AAS00484,AAH00334,AAP35573,CAG33019,AAA86517,CAA59197,Q13158,Q6IBR4 Hs.86131 GDB:1320394 GIG3|MGC8528|MORT1 protein-coding 1344024 FADS1 fatty acid desaturase 1 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. 1625415,1625413,1625421 10601301,17353931,18479586,18320251,17852835,17655842,16893529,16846730,16806233,16670158,16643857,16303743,14702039,12477932,10860662,10769175,9445487,9373149,9110174,8619474,8125298 1625415,1625413,1625421 3992 AC004770,AP002380,CH471076,AF035284,AF084558,AF199596,AF226273,AF271778,AK027427,AK027522,AK074754,AK074819,AK096275,AK222906,AK289552,NM_013402,AL512760,AL834479,BC007846,CR591980,CR597486,CR602403,CR611884 NP_037534,AAC23397,EAW73973,AAG23120,AAF29378,AAF70457,AAG44789,BAB55103,BAB55173,BAC11182,BAC11229,BAD96626,BAF82241,CAC21679,CAD39138,AAH07846,O60427,Q9H2H3,ABM92260,ABM84748 Hs.503546 GDB:9863030 D5D|FADS6|FADSD5|FLJ38956|FLJ90273|LLCDL1|TU12 protein-coding 68475 FADS2 fatty acid desaturase 2 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. 1580863 9867867,18479586,18320251,17984066,17852835,17284757,16908951,16893529,16670158,16303743,14702039,12951357,12851727,12713571,12562861,12477932,12147235,10860662,9445487 9415 NM_004265,AP002380,CH471076,CQ782909,AF084559,AF108658,AF126799,AK027459,AK027513,AK027577,AK074925,AK074939,AK074991,AK123240,AK290291,AL050118,BC009011,CR593148,CR599697,CR610979,CR617384 NP_004256,EAW73974,EAW73975,CAF86135,AAG23121,AAG43192,AAD20018,BAB55167,BAC11305,BAF82980,CAB43280,AAH09011,O95864 Hs.502745 GDB:9863031 D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13 protein-coding 1352711 FADS3 fatty acid desaturase 3 The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. 1580863 10860662,14702039,12477932 3995 CR607573,CR608795,CR618275,NM_021727,AP006260,CH471076,AB209356,AF084560,AF134404,AK091608,BC004901 Q59FV3,Q9Y5Q0,ABM83806,ABM87128,NP_068373,EAW73976,EAW73977,EAW73978,BAD92593,AAG23122,AAD31282,AAH04901 Hs.21765 GDB:9863032 CYB5RP|LLCDL3 protein-coding 1351054 FADS6 fatty acid desaturase domain family, member 6 1580863 14702039,12477932 283985 NM_178128,AC068874,CH471099,AK094411,AY203929,BC117230 NP_835229,EAW89210,EAW89211,BAC04349,AAP34452,AAI17231,Q17RQ7,Q6XYE1,Q8N9I5 Hs.448845 FP18279 protein-coding 733981 FAF1 Fas (TNFRSF6) associated factor 1 Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. 15596450,14600157,11713579,15743842,10462485,15688372,12702723,17999750,17684021,17046979,15592455,15489334,15231748,15207703,14702039,12963981,12832043,12477932,12372427,12087183,11527403,11378439,11243799,10810093,10094392,9740801,8524870 11124 AC091610,AC118557,AL049637,AL359977,AL603746,CH471059,AF094700,AF106798,AF132938,AF136173,AJ271408,AK094843,AK292840,NM_007051,AL133631,BC004970,BC067100,CR611648,CR625260 NP_008982,CAI23009,CAI23010,CAH72113,CAH72114,EAX06837,EAX06838,AAD51876,AAD51886,AAD27713,AAP97263,CAB67705,BAF85529,CAB63755,AAH04970,AAH67100,Q5VTA1,Q5VTA2,Q5VTA3,Q9UNN5,ABM83865,ABM87187 Hs.530402 GDB:9956860 CGI-03|FLJ37524|HFAF1s|hFAF1 fas-associated factor 1 protein-coding 733367 FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). 737743,737742,1580863,1300048 1998338,9305902,18072279,15759101,15638932,15489334,15465000,14718574,12477932,11476670,11278491,11196105,9633815,9101289,8829657,8723698,8557261,8422430,8364576,8318997,8162054,8028615,8005583,7977370,7942842,7821789,7757089,7550234,7296877,6622096,2378358,2378356,2336361,1401056 737743,737742 2184 NM_000137,AC087761,CH471136,BC002527,BT007160,BX537608,CR593179,CR600618,CR603970,CR605525,CR612848,CR617015,CR623289,CR624063,D28440,M55150,S63548,X51728 NP_000128,EAW99120,AAH02527,AAP35824,CAD97795,BAA05806,AAA52422,CAA36016,P16930,Q53XA7,EAW99121 Hs.73875 GDB:119901 protein-coding 1348488 FAHD1 fumarylacetoacetate hydrolase domain containing 1 15231747,16381901,15551868,15489336,15489334,14702039,12477932,11256614,11230166,11157797,11076863 81889 NM_031208,NM_001018104,AC012180,AE006639,AL031722,CH471112,AF293367,AK094199,AL136720,BC020615,BC063017,CR533499,CR600899,CR614808 NP_112485,NP_001018114,AAK61295,EAW85608,AAG10069,BAC04308,CAB66654,AAH20615,AAH63017,CAG38530,Q0JV00,Q6P587,Q9HAZ7,CAL37660 Hs.513265 C16orf36|DKFZp566J2046|MGC74876|YISKL protein-coding 1345912 FAHD2A fumarylacetoacetate hydrolase domain containing 2A 1580863 15551868,12477932,10810093,7566098 51011 NM_016044,AC009238,CH471219,AA311902,AF151863,BC009403,BC110911,CR623858 NP_057128,AAY14753,EAX10729,EAX10730,EAX10731,EAX10732,EAX10733,AAD34100,AAH09403,AAI10912,Q96GK7 Hs.546387 CGI-105|MGC131995 protein-coding 1602649 FAHD2B fumarylacetoacetate hydrolase domain containing 2B 12477932 151313 NM_199336,AC018892,CH471207,AL833869,BC064511 NP_955368,AAY14641,EAW71308,EAW71309,EAW71310,EAW71311,EAW71312,EAW71313,EAW71314,CAD38727,AAH64511,Q6P2I3 Hs.567723 DKFZp434N062 protein-coding 1626693 FAHD2P fumarylacetoacetate hydrolase domain containing 2 pseudogene 729610 AC083809 pseudo 1605660 FAIM Fas apoptotic inhibitory molecule 17942717,17912957,15489334,14702039,12477932,12107411,10075978,8889548 55179 NM_001033030,NM_001033031,NM_001033032,NM_018147,AC020890,CH471052,AK001444,AK125477,BC012478,BM469375,BM738750,BQ638715,BU738945,CR457122 NP_001028202,NP_001028203,NP_001028204,NP_060617,EAW79057,EAW79058,EAW79059,BAA91695,BAC86174,AAH12478,CAG33403,Q6IAN2,Q9NVQ4,ABM82508,ABM85702 Hs.173438 GDB:11505996 FAIM1 protein-coding 1348169 FAIM2 Fas apoptotic inhibitory molecule 2 16964429,10535980,17912957,15489334,14702039,12477932,10231032,16189514 23017 NM_012306,AC131157,CH471111,AB023167,AF190461,AK090728,AK290031,AL707764,BC000051,BX647219,CR599086,CR615096,CR615657,CR622004,CR624617 NP_036438,EAW58103,EAW58104,BAA76794,AAF06327,BAF82720,AAH00051,Q9BWQ8 Hs.567424 GDB:9954693 KIAA0950|LFG|NGP35|NMP35|TMBIM2 protein-coding 1603318 FAIM3 Fas apoptotic inhibitory molecule 3 9586636,17553462,12477932,1563211 9214 NM_005449,AC098935,CH471100,AF057557,AK292007,BC006401,BT006797,CR625287 NP_005440,EAW93517,AAC18830,BAF84696,AAH06401,AAP35443,O60667,ABM81625 Hs.58831 TOSO protein-coding 1604544 FAM100A family with sequence similarity 100, member A 15498874,15489334,14702039,12477932 124402 NM_145253,AC023830,CH471112,AF370434,AF447881,AK055785,AK056747,AW015675,BC008681,BC012018,BC025327,BC040160,BC062534,CR608937 NP_660296,EAW85284,EAW85285,EAW85286,EAW85287,EAW85288,AAQ15270,AAQ04656,AAH12018,AAH25327,AAH62534,Q0P6I1,Q71RA5,Q8TB05 Hs.513313 FLJ31223|FLJ32185|PP11303 protein-coding 1605547 FAM100B family with sequence similarity 100, member B 15489334,12477932 283991 NM_182565,AC015801,CH471099,BC035511,BC060859,CR590966,CR596963,CR599986,CR613339,CR616618 NP_872371,EAW89383,AAH35511,AAH60859,Q8IYN6,ABW03765 Hs.644033 MGC29814|MGC71792 protein-coding 1606962 FAM101A family with sequence similarity 101, member A 16541075,14702039,12477932 144347 NM_181709,AC073916,CH471054,AK074545,AK126577,BC026875,BC042102,BC085606,BC141805,BQ182211,CR602224 NP_859060,EAW98447,BAC11049,BAC86601,AAI41806,Q6ZTI6,Q8N2Q0 Hs.432901 FLJ44614 protein-coding 1601917 FAM101B family with sequence similarity 101, member B 16169070,15489334,14702039,12477932 359845 NM_182705,AC141424,CH471108,AF085987,AK093557,BC014203,BC031341 NP_874364,EAW90664,EAW90665,AAH31341,Q8N5W9 Hs.345588,Hs.591203,Hs.596411,Hs.615223 MGC45871 protein-coding 1605493 FAM102A family with sequence similarity 102, member A 15164053,14605097,12477932,10737800 399665 NM_001035254,NM_203305,AL157935,CH471090,AK058004,AK074108,AL049365,BC047949,BC137088,BC142952,BI008660,CN482844 NP_001030331,NP_976050,CAI12618,CAM14149,EAW87731,EAW87732,EAW87733,BAB84934,CAH10739,AAI37089,Q5T9C2,Q69Z06,Q86WT3 Hs.568044 C9orf132|EEIG1|MGC50853|bA203J24.7 protein-coding 1603518 FAM102B family with sequence similarity 102, member B 17081983,16710414,15146197,14702039,12477932,8889548 284611 NM_001010883,AL160171,CH471122,AK025203,AK094905,BC127898,BC140863,BC140865,BC150530,BM680063,BQ426065,BX485163,CN281555,CR593389,CR622249,CR749397,CR936815 NP_001010883,CAQ10401,CAQ10402,EAW56323,AAI27899,AAI40864,AAI40866,AAI50531,CAH18243,Q5T8I3 Hs.200230 DKFZp686N01110|DKFZp779B126 protein-coding 1320685 FAM103A1 family with sequence similarity 103, member A1 16189514,15489334,12477932 83640 NM_031452,AC022558,CH471188,AK027095,AL049237,BC003627,BC027181,BC112329,CR597724,CR621664 NP_113640,EAW62434,AAH03627,AAH27181,AAI12330,Q9BTL3,ABM83275,ABM86479 Hs.80624 C15orf18|HsT19360|MGC102778|MGC2560 chromosome 6 open reading frame 119 protein-coding 1604467 FAM103A2P family with sequence similarity 103, member A2 pseudogene 353267 NG_005047 C6orf119|MGC2560|dJ427A4.2 pseudo 1602856 FAM104A family with sequence similarity 104, member A 16344560,15489334,14702039,12477932,9417904 84923 NM_032837,NM_001098832,AC097641,CH471099,CQ783651,CQ871274,CQ871276,AI926103,AK027681,AK074755,BC011054,BC025238,BX537858,BX648968,CR624411,DB265439,U92989 NP_116226,NP_001092302,EAW89115,EAW89116,CAF86794,CAH56818,CAH56819,BAB55292,BAC11183,AAH11054,AAH25238,Q969W3 Hs.103555 FLJ14775 protein-coding 1353979 FAM104B family with sequence similarity 104, member B 737633 15772651,15489334,12477932 737633 90736 NM_138362,AL590240,CH471154,AK000441,BC000919,BC006406,BC017571,CR591055 NP_612371,CAI39881,EAW93215,EAW93216,EAW93217,EAW93218,AAH00919,AAH06406,AAH17571,Q5XKR9 Hs.415414 CXorf44|FLJ20434 protein-coding 1604002 FAM105A family with sequence similarity 105, member A 15489334,14702039,12477932,9373149 54491 NM_019018,AC010627,AC016656,CH471102,AK001989,AK222731,AL512750,BC011524,CR591591 NP_061891,EAX08042,EAX08043,BAA92023,BAD96451,CAC21673,AAH11524,Q9NUU6 Hs.591751 FLJ11127 protein-coding 1602667 FAM105B family with sequence similarity 105, member B 16189514,15489334,14702039,12477932 90268 NM_138348,AC010491,CH471102,AK092203,AK095615,AK123480,BC007706,BC015392,CK817982 NP_612357,EAX08037,EAX08038,EAX08039,BAC03828,AAH07706,AAH15392,Q96BN8 Hs.406335 FLJ34884 protein-coding 1604137 FAM106B family with sequence similarity 106, member B 440411 XM_496191,AC015818 XP_496191 protein-coding 1605094 FAM107A family with sequence similarity 107, member A 17353931,10564580,16432833,16381901,16189514,15489336,15489334,15342556,14702039,12477932,11256614,11230166,11076863,10702698,9110174,8619474 11170 NM_001076778,NM_007177,AB023810,AC116036,AC119424,CH471055,AB023811,AF035283,AF089853,AF089854,AK054720,AK055443,AK128791,AL050264,BC010561,BC093012,BP212425,BX645008,CR457133,CR591615,CR600423,CR601858,CR607139,CR609117,CR610702,CR617615,CR621351,EU569833 NP_001070246,NP_009108,BAA83072,EAW65378,EAW65379,EAW65380,EAW65381,BAA82845,AAD16093,AAD16094,BAB70924,CAB43366,AAH10561,CAG33414,ACB71116,O95990,Q6IAM1,CAL38640,ABM82689,ABM85873 Hs.506357 DRR1|FLJ30158|FLJ45473|TU3A protein-coding 1346416 FAM107B family with sequence similarity 107, member B 16381901,15489336,15489334,15164054,12477932,11230166,11076863 83641 NM_031453,AC069544,AL139405,AL157706,AL158168,CH471072,CR533466,CR610285,CR614450,CR620856,CR622977,AK024648,AK074275,AK127413,AK289959,AL136885,BC004872,BC064407,BC072452 NP_113641,CAI12270,CAI12271,CAI12272,AAH72452,CAG38497,Q0JSN8,Q5T9K7,Q5T9K8,Q6ZSI4,Q9H098,CAL38476,EAW86268,EAW86269,EAW86270,EAW86271,BAC86966,BAF82648,CAB66819,AAH04872,AAH64407 Hs.446315 C10orf45|FLJ45505|MGC11034|MGC90261 chromosome 10 open reading frame 45 protein-coding 1347246 FAM108A1 family with sequence similarity 108, member A1 737633 16303743,14702039,12477932 737633 81926 BC071876,BC094816,CR593932,CR594563,CR603226,CR607418,CR615865,CR624450,AK074548,AK090438,AK289533,BC000158,BC009256,BC011667,BC020512,BC033749,BC035961,BC050605,BC071644,NM_031213,AC012615,CH471139,AK024419,AK074043 AAH71644,AAH71876,AAH94816,BAB84869,BAC11052,BAC03419,BAF82222,AAH00158,AAH09256,AAH11667,AAH20512,AAH33749,AAH35961,NP_112490,EAW69440,EAW69441,EAW69442,EAW69443,EAW69444,EAW69445,EAW69446,EAW69447,BAB15709,Q5RGM9,Q96GS6 Hs.465542,Hs.653679 C19orf27|MGC5244 chromosome 19 open reading frame 27 protein-coding 1604668 FAM108A2 family with sequence similarity 108, member A2 728917 XM_001722787,XM_001724669,XM_001717621,BX842679 XP_001722839,XP_001724721,XP_001717673 protein-coding 1642210 FAM108A3 family with sequence similarity 108, member A3 653401 NM_001080422,AL049742 NP_001073891 Hs.465542 C1orf47|FAM108A2 protein-coding 2292190 FAM108A4 family with sequence similarity 108, member A4 648359 CR606427,CR606752,CR609494,CR611661,CR616972,CR617146,CR617500,CR620337,CR620847,XR_041788,XR_041789,XR_041787,XR_041786,XR_041784,XR_041785,AL445305,CR597860,CR600437,CR601519 Hs.632497 protein-coding 2293157 FAM108A5 family with sequence similarity 108, member A5 729495 XR_015564,XM_001725793,XM_001721929,AC007050,CH471176 XP_001725845,XP_001721981,EAX02943 Hs.648248 protein-coding 1313162 FAM108B1 family with sequence similarity 108, member B1 737633 15489334,15164053,12477932,10810093 737633 51104 NM_016014,NM_001025780,AL138751,AL671309,CH471089,AF151825,AI564777,AK293060,BC038390,BC044576,BG720713 NP_057098,NP_001020951,CAH72763,CAH72764,EAW62521,EAW62522,AAD34062,BAF85749,AAH38390,AAH44576,Q5VST6 Hs.380389 C9orf77|CGI-67|RP11-409O11.2 chromosome 9 open reading frame 77 protein-coding 1603613 FAM108C1 family with sequence similarity 108, member C1 14702039,12477932 58489 AL390079,BC059401,BC115003,AC023302,CH471136,AK091780,AK092758,NM_021214 CAB98203,AAH59401,AAI15004,Q6PCB6,NP_067037,EAW99113 Hs.459072 FLJ34461|MGC131546 protein-coding 1602835 FAM109A family with sequence similarity 109, member A 15489334,14702039,12477932 144717 NM_144671,AC005805,CH471054,AK056918,AK093052,BC014091,BC018996,BC034809,CX758147,CX785083 NP_653272,EAW97950,BAB71310,BAC04036,AAH14091,AAH34809,Q8N4B1 Hs.173088 FLJ32356 protein-coding 1604738 FAM109B family with sequence similarity 109, member B 15489334,15461802,12477932,10591208 150368 NM_001002034,CH471095,Z82192,Z99716,BC029776,BC104175,BC104176,BX648402,CR456454,CR600979,CR605425 NP_001002034,EAW60487,CAI19712,CAI41696,CAQ07555,AAH29776,AAI04176,AAI04177,CAG30340,Q6ICB4,CAK54435,CAK54734 Hs.368312 DKFZp686J07229|MGC125831|MGC125832 protein-coding 1346696 FAM10A3 family with sequence similarity 10, member A3 12079276 144638 NG_004762,AC011595 GDB:11505998 FAM10A3P pseudo 1348593 FAM10A4 family with sequence similarity 10, member A4 1580863 17081983,16807684,12079276 145165 NR_002183,AL157367,AF539468 AAN16377,Q8IZP2 Hs.511834 GDB:11506000 pseudo 1352140 FAM10A5 family with sequence similarity 10, member A5 1580863 12079276 144106 NG_005653,AC107948,AF512499 AAM44055,Q8NFI4 Hs.567697 GDB:11506002 pseudo 1347927 FAM10A6 family with sequence similarity 10, member A6 12079276 157530 NR_002199,NG_007353,AF186191 GDB:11506004 FAM10A6P pseudo 1350772 FAM10A7 family with sequence similarity 10, member A7 (pseudogene) 12477932,12079276 155019 NR_002198,AC083873,CH236950,BC101206,BC101207,BC101208 AAI01207,AAI01208,AAI01209,A0AUJ6 Hs.707999 GDB:11506006 FAM10A7P pseudo 1318939 FAM110A family with sequence similarity 110, member A 17499476,16344560,15489334,12477932,11780052 83541 NM_001042353,NM_207121,NM_031424,AL118502,CH471133,AB196290,AL530841,BC004222,BC012800,BC022238,BI911808,CR593574,CR599968,CR623946,DA915382,DQ431181 NP_001035812,NP_997004,NP_113612,CAC28879,EAX10655,EAX10656,BAD77807,AAH04222,AAH12800,AAH22238,ABD92773,Q5R1M7,Q9BQ89 Hs.574822,Hs.707718 GDB:11505230 C20orf55|F10|MGC2450|MGC4675|bA371L19.3 chromosome 20 open reading frame 55 protein-coding 1605314 FAM110B family with sequence similarity 110, member B 17499476,14702039,12477932,9110174,8619474 90362 NM_147189,AC027698,AC104350,AC110013,CH471068,AK023658,AK026141,AK092221,AY937246,BC024294,DQ431182,U79298 NP_671722,EAW86801,EAW86802,AAX28928,AAH24294,ABD92774,AAB50224,Q8TC76 Hs.154652 C8orf72|MGC39325 protein-coding 1606851 FAM110C family with sequence similarity 110, member C 17499476 642273 NM_001077710,AC097643,AL137761,CR601458,DQ431183 NP_001071178,ABD92775,Q1W6H9 Hs.8379,Hs.710113 protein-coding 1606517 FAM111A family with sequence similarity 111, member A 14702039,12477932,11572484,15489334 63901 NM_198847,AP001258,CH471076,AB067482,AK025319,AK026447,AK092061,AK092237,AK092953,AK130799,AK291453,BC013137,BC041693,BC054515,NM_022074,BC071759,BQ420366,BU428612,CR749358 NP_071357,NP_942144,EAW73834,EAW73835,EAW73836,EAW73837,BAB67788,BAB15486,BAF84142,AAH13137,AAH54515,AAH71759,CAH18211,Q8IVX6,Q96PZ2 Hs.150651 DKFZp686A06175|FLJ22794|KIAA1895 protein-coding 1603483 FAM111B family with sequence similarity 111, member B 15489334,12477932 374393 NM_198947,AP001258,AY457926,BC005998,BC062456,BC130513,BC130539 NP_945185,AAR20839,AAH62456,AAI30514,AAI30540,Q6SJ93 Hs.186579 CANP protein-coding 1318837 FAM113A family with sequence similarity 113, member A 17353931,16189514,15489334,14702039,12601173,12477932,11780052 64773 AL161656,CH471133,AK026029,AK056353,AK126535,AL442086,AY211913,BC008864,NM_022760,BC014247,BC037240,BC051816,CR604790,CR618243 NP_073597,CAC21463,CAC21464,CAI12118,CAI12119,EAX10567,EAX10568,EAX10569,EAX10570,EAX10571,EAX10572,BAB15328,BAB71160,AAO65166,AAH08864,AAH14247,AAH37240,AAH51816,Q5JUA7,Q9H1Q7 Hs.29341 GDB:11505278 C20orf81|DKFZp547L054|FLJ22376|bA12M19.1 chromosome 20 open reading frame 81 protein-coding 1602665 FAM113B family with sequence similarity 113, member B 12477932 91523 NM_138371,AC008083,CH471111,BC008360,BC016154,BC072670 NP_612380,EAW57925,EAW57926,EAW57927,EAW57928,AAH08360,AAH16154,Q96HM7 Hs.560100 MGC16044 protein-coding 1606191 FAM114A1 family with sequence similarity 114, member A1 15489334,14702039,12477932 92689 NM_138389,AC108044,CH471069,AK094179,AK292831,BC001096,BC040452,BC041559,BX640862 NP_612398,EAW92903,EAW92904,BAF85520,AAH01096,AAH40452,CAE45923,Q6MZV4,Q8IWE2 Hs.476517 Noxp20 protein-coding 1602499 FAM115A family with sequence similarity 115, member A 16713569,16189514,14702039,12477932,9872452,9847074 9747 NM_014719,AC004742,AC099548,CH236959,CH878732,AB018281,AF086218,AF119896,AK001640,AK291605,BC000609 NP_055534,AAQ96852,AAQ96853,EAW55623,BAA34458,AAF69650,BAF84294,AAH00609,Q9P151,Q9Y4C2 Hs.406492 KIAA0738 protein-coding 1641972 FAM115B family with sequence similarity 115, member B 653199 XM_935633,XM_001127110 XP_001127110,XP_940726 Hs.490420 protein-coding 1606682 FAM116A family with sequence similarity 116, member A 14702039,12477932 201627 NM_152678,AC114480,CH471055,AK074156,AK092288,BC040291,BC054343,CR607826 NP_689891,EAW65345,EAW65346,BAB84982,BAC03852,AAH40291,AAH54343,Q8IWF6 Hs.91085 FLJ34969 protein-coding 1606364 FAM116B family with sequence similarity 116, member B 15489334,14702039,12477932,8889548 414918 NM_001001794,CH471138,CR759740,CR861497,CR861498,CR932343,CR932344,AK054743,BC031069,BI758775,BM981037,BX363595 NP_001001794,EAW73528,EAW73529,AAH31069,Q8NEG7 Hs.530380 MGC33692 protein-coding 1604587 FAM117A family with sequence similarity 117, member A 15489334,12477932 81558 AC015795,CH471109,AF123073,BC037572,BC065199,CR596320,NM_030802 NP_110429,EAW94662,EAW94663,EAW94664,AAK01477,AAH37572,AAH65199,Q9C073 Hs.514308 protein-coding 1345510 FAM118A family with sequence similarity 118, member A 737633 16344560,15489334,15461802,14702039,12477932,10591208 737633 55007 NM_017911,AL008718,CH471138,AK000642,AK026239,AK125027,AW206534,BC013696,BQ022265,CB961784,CR456403,CR609598,CR624528,DB153788,NM_001104595,DB459223 NP_060381,CAI17949,CAQ08674,CAQ08675,CAQ08676,CAQ08677,EAW73378,EAW73379,EAW73380,BAA91301,AAH13696,CAG30289,NP_001098065,Q9NWS6 Hs.265018 C22orf8|FLJ20635 protein-coding 1603013 FAM118B family with sequence similarity 118, member B 12477932,9373149 79607 NM_024556,AP001318,CH471065,AK024756,AK225081,BC001340,BC001647,CB141933,CR457334,CR595100,CR599154,CR617090,CR617403,CR623279,CR623280,CR625659 NP_078832,EAW67677,EAW67678,EAW67679,EAW67680,BAB14987,AAH01340,AAH01647,CAG33615,Q9BPY3 Hs.276315 FLJ21103 protein-coding 1602980 FAM119A family with sequence similarity 119, member A 14702039,12477932 151194 NM_145280,NM_001127395,AC079767,CH471063,AF455817,AK093812,BC009462,BC033720,BG832122,CR601624 NP_660323,NP_001120867,AAX93175,EAW70411,EAW70412,EAW70413,EAW70414,EAW70415,EAW70416,EAW70417,AAL66295,BAC04229,AAH09462,AAH33720,Q8WXB1 Hs.668241 MGC45373 protein-coding 1604024 FAM119B family with sequence similarity 119, member B 11256614,16381901,15489336,12477932,11076863 25895 NM_206914,NM_015433,AC025165,CH471054,AF455816,AK024983,AK292276,AL050100,BC016395,BC099841,BC103501 NP_996797,NP_056248,EAW97072,EAW97073,EAW97074,AAL66294,BAB15049,BAF84965,CAB43271,AAH16395,AAH99841,AAI03502,Q96AZ1,CAL38120,CAL38637 Hs.632720 DKFZP586D0919 protein-coding 1315374 FAM120A family with sequence similarity 120A 17081983,16964243,15782174,15592455,15489334,15164053,14702039,14585507,12477932,9110174,8889548,8724849,8619474 23196 NM_014612,AL353629,CH471089,AF055017,AF214737,AF214738,AK091785,AK096349,AY266457,AY450389,AY450393,BC007879,BC034935,BC075701,BC098584,BC111736,BX326996,CA419293,CB989774,CD110412,CF135376,D80005 NP_055427,CAI96105,CAI96106,CAI96108,CAI96109,EAW62863,EAW62864,EAW62865,EAW62866,AAC09364,AAF72866,AAF72867,BAC03748,AAP31031,AAR21082,AAR21086,AAH07879,AAH98584,AAI11737,BAA11500,Q86V69,Q8NAZ6,Q9NZB2 Hs.372003,Hs.707324 C9orf10|DNAPTP1|DNAPTP5|MGC111527|MGC133257 protein-coding 1349056 FAM120AOS family with sequence similarity 120A opposite strand 14702039,14585507,12477932 158293 NM_198841,AL353629,AL583839,CH471089,AK056096,AK093641,BC037551,BC038803,BC046183,BC063650,BC080634,BC107135,BC107136,BC113074,CR593923 NP_942138,CAI96107,CAI12338,CAI12339,CAI12340,CAI12342,EAW62862,Q5T036,AAI60143 Hs.350364,Hs.709859 C9orf10OS|FLJ31534 protein-coding 1321130 FAM120B family with sequence similarity 120B 17595322,17353931,16189514,14702039,14585507,12477932,11347906 84498 AL008628,AL078605,CH471051,AB058741,AK056435,AL832883,AY266458,NM_032448,BC012177,DQ873695 NP_115824,CAI19554,EAW47424,BAB47467,AAP31032,AAH12177,ABH09086,Q5JXJ5,Q96EK7 Hs.369522 KIAA0183|KIAA1838|PGCC1|dJ894D12.1 protein-coding 1603035 FAM120C family with sequence similarity 120C 15489334,14702039,14585507,12477932 54954 NM_017848,AL589872,AK000513,AK125664,AY121803,AY150025,BC016138,BC073166,BC081532,BQ270974 NP_060318,BAA91219,AAM82751,AAO24121,AAH16138,AAH81532,Q5VUJ3,Q642I8,Q9NX05 Hs.86045,Hs.703601 CXorf17|FLJ20506|FLJ43676|ORF34 protein-coding 1321149 FAM122A family with sequence similarity 122A 737633 17081983,15489334,15164053,14702039,12477932,12107410 737633 116224 NM_138333,AL354794,CH471089,AA418448,AK126379,BC013062,BE778779,BI757526,CA390009,CD517474,CR597654,CR612982,H54102 NP_612206,CAI12619,EAW62468,AAH13062,Q96E09 Hs.655572 C9orf42|MGC17347 protein-coding 1605855 FAM122B family with sequence similarity 122B 16964243,16381901,15772651,15489336,15489334,14702039,12477932,11230166,11076863 159090 AL832218,BC019221,BC032419,BC110846,BX538218,NM_145284,XM_001715894,AL672032,AL691477,CH471107,AK026809,AK124650,AK124940,AK125991,AK292517 BAF85206,AAH19221,AAH32419,AAI10847,CAD98073,Q7Z309,CAL38157,NP_660327,XP_001715946,EAX11749,EAX11750,EAX11751,EAX11752,EAX11753,EAX11754,EAX11755,BAC85918,BAC85999,BAC86380 Hs.404706 DKFZp686L20116|MGC131814|RP11-308B5.5 protein-coding 1605854 FAM122C family with sequence similarity 122C 15772651,15489334,12477932 159091 NM_138819,AL691477,CH471107,Z83826,AK130840,BC016784,BC017868,BC063491,BC065225 NP_620174,EAX11745,EAX11746,EAX11747,EAX11748,CAI42827,AAH17868,AAH63491,AAH65225,Q6P187,Q6P4D5 Hs.269127 RP3-473B4.1 protein-coding 1604720 FAM123A family with sequence similarity 123A 15489334,15345747,15057823,14702039,12477932,8889548 219287 NM_152704,NM_199138,AL359757,CH471075,AK055049,AK098343,AK098796,AL832627,BC032653,BC041392,BM680074 NP_689917,NP_954589,CAH70807,EAX08363,EAX08364,BAB70845,BAC05288,BAC05414,AAH32653,AAH41392,Q8N785,Q8N7J2 Hs.528335 FLJ25477 protein-coding 1606716 FAM123B family with sequence similarity 123B 18311776,18021721,17620295,17510365,17204608,16344560,15772651,14702039 139285 NM_152424,AL355852,CH471132,AK097146,AL833759,DA939151,EF186024 NP_689637,CAI40637,EAX05415,BAC04964,ABM60755,Q5JTC6 Hs.314225 FLJ39827|RP11-403E24.2|WTX protein-coding 1601927 FAM123C family with sequence similarity 123C 16344560,14702039,12477932 205147 NM_152698,NM_001105193,NM_001105194,NM_001105195,AC010984,AC140481,CH471250,AK095696,AK289525,AK291424,BC025667,BC113445,BC113447,DA102742,DA318919,DA401709,DA500900,DA773233 NP_689911,NP_001098663,NP_001098664,NP_001098665,AAY24355,EAW51273,BAC04612,BAF82214,BAF84113,AAI13446,AAI13448,Q8N944 Hs.369289 FLJ38377 protein-coding 1602826 FAM124A family with sequence similarity 124A 16189514,14702039,12975309,12477932 220108 AL157817,CH471075,AK055269,AK096364,AY358177,BC034497,BC051771,NM_145019 CAI14260,EAX08867,EAX08868,BAB70894,BAC04769,AAQ88544,AAH34497,AAH51771,Q6UXW9,Q86V42,NP_659456 Hs.71913 FLJ30707 protein-coding 1602681 FAM124B family with sequence similarity 124B 16189514,12477932 79843 NM_024785,NM_001122779,AC008072,CH471063,AK026399,AK075126,BC025754 NP_079061,NP_001116251,AAY14842,EAW70826,EAW70827,BAB15471,BAC11418,AAH25754,Q9H5Z6 Hs.147585 FLJ22746 protein-coding 1604253 FAM125A family with sequence similarity 125, member A 16895919,15489334,14702039,12477932 93343 NM_138401,AC010319,CH471106,AK057057,AK289487,BC007883,BC011840,CR592592,CR593704,CR595176,CR601184,CR607438,CR608687,CR615887,CR622775 NP_612410,EAW84604,EAW84605,BAF82176,AAH07883,AAH11840,Q96EY5 Hs.515243 CFBP|FLJ32495 protein-coding 1320196 FAM125B family with sequence similarity 125, member B 15489334,14702039,12477932,11214971 89853 NM_033446,NM_001011703,AC006443,CH471090,AJ420437,AK000001,AK024432,AK024441,BC000122,BC028675,BC036326,BC041601 NP_258257,NP_001011703,EAW87639,EAW87640,BAA92226,BAB15722,BAB15731,AAH00122,AAH28675,Q9BWM8,Q9H7N7,Q9H7P6,Q9NXY4 Hs.162659 C9orf28|FLJ00001 chromosome 9 open reading frame 28 protein-coding 1606763 FAM126A family with sequence similarity 126, member A 10910037,17928815,16951682,15489334,14702039,12853948,12690205,12477932 84668 AC005682,AC006039,CH236948,CH471073,AB030241,AK054887,AK056319,AL833296,BC018710,BX640757,CR626024,NM_032581 NP_115970,AAS01991,AAS07519,EAL24262,EAW93767,EAW93768,BAB39849,BAB70823,BAB71148,AAH18710,CAE45864,Q9BYI3,ABM82624,ABM86267 Hs.85603 DRCTNNB1A|HCC|hyccin protein-coding 1605824 FAM126B family with sequence similarity 126, member B 11256614,15489334,15302935,14702039,12477932 285172 NM_173822,AC005037,AC007272,CH471063,AK027168,AK097111,AK124184,AL832234,AL832346,AL833403,BC039295 NP_776183,AAY14726,AAX88971,EAW70230,EAW70231,EAW70232,AAH39295,Q4ZG87,Q53TX6,Q8IXS8,ABM82448,ABM85638 Hs.567816 MGC39518 protein-coding 1354377 FAM127A family with sequence similarity 127, member A 1580863 16713569,16093683,15772651,15716091,15489334,12477932,9403077,9110174,8619474 8933 NM_001078171,AL136169,CH471107,AF038168,AF052096,BC002385,BC002410,BC106076,CD367165,CR456853,CR623551,CX784259,D88756,Y13374 NP_001071639,CAB87958,EAX11739,AAB97361,AAC28618,AAH02385,AAH02410,CAG33134,BAB46920,CAA73804,A6ZKI3,O15255,ABM82310,ABW03433 Hs.522789 GDB:6275875 CXX1|MAR8C|MART8C|MGC117411|Mar8|Mart8 protein-coding 1603403 FAM127B family with sequence similarity 127, member B 16093683,15716091,12477932,9403077,16189514 26071 NM_001078172,AL136169,AL117556,BC000393,BC008096,BC019300,BC071991,BM050811,BU161376,CR457123,CR542228,CR601523 NP_001071640,CAD92617,AAH00393,AAH19300,AAH71991,CAG33404,CAG47024,Q6IAN1,Q6IPB9 Hs.460924,Hs.709504 CXX1b|DKFZp564B147|MAR8A|MGC8471 protein-coding 1604676 FAM127C family with sequence similarity 127, member C 16093683,15716091,12477932,9403077 441518 NM_001078173,AL136169,AI569106,AK098443,BC048268,BC063496,BC073159,BC086860,BC113720,BC117393,CR591199,CR598489,CR599023,CR606829,CR608930,CR612217,DB490903 NP_001071641,CAD92616,AAI13721,AAI17394,Q17RB0 Hs.378813,Hs.709833 CXX1c|FLJ25577|MAR8B protein-coding 1603721 FAM128A family with sequence similarity 128, member A 12477932,8889548 653784 NM_001085365,AC073869,BC018206,BC063024,BC104650,BI599271,BM554057,BU682101 NP_001078834,AAX93252,AAH18206,AAH63024,AAI04651,Q6P582 Hs.655067 protein-coding 1605033 FAM128B family with sequence similarity 128, member B 14702039,12477932 80097 BC017694,BC066296,BG036944,BI546951,CR623609,CR624733,NM_025029,AC018804,CH471263,AK024408,BC014255 AAH17694,AAH66296,Q3SWV8,Q6NZ67,Q8WVB2,Q96CG4,Q9H7R4,NP_079305,AAY14884,EAW55602,EAW55603,EAW55604,EAW55605,BAB14912,AAH14255 Hs.469925,Hs.516450 FLJ14346|MGC87017 protein-coding 736616 FAM129A family with sequence similarity 129, member A 16949643,16710414,16444351,15489334,15085203,14702039,12477932,11318611,11011112 116496 NM_052966,AL096819,AL109865,AL109956,AL136086,CH471067,AB050477,AF288391,AK022527,AK074139,AK095547,AL137572,AY550972,BC018532,BC030531 NP_443198,CAI21739,CAI17848,EAW91184,EAW91185,BAB17230,AAG60611,BAB14079,BAB84965,AAT52218,AAH30531,Q9BZQ8 Hs.518662 GDB:11505330 C1orf24|FLJ38228|NIBAN niban protein protein-coding 1315963 FAM129B family with sequence similarity 129, member B 737633 17081983,16964243,16083285,15489334,15302935,14702039,12477932 737633 64855 AK025951,AL137555,BC001979,BC018849,BC023210,BC067366,BC110345,BM557756,BX280720,NM_001035534,NM_022833,AL390116,AL445222,CH471090,AB210016,AF151783,AF192911,AK023580,AK025804 CAB70809,AAH01979,AAH67366,AAI10346,Q2YD88,Q4LE55,Q5VVW6,Q5VVW7,Q6NWY7,Q96TA1,Q9H6L6,Q9H8K1,NP_001030611,NP_073744,CAH73084,CAH73085,CAH72914,CAH72915,EAW87675,EAW87676,EAW87677,EAW87678,BAE06098,AAK57556,AAQ13825,BAB14615,BAB15240 Hs.522401 C9orf88|DKFZP434H0820|FLJ13518|FLJ22151|FLJ22298|MEG-3|OC58|bA356B19.6 protein-coding 1604724 FAM129C family with sequence similarity 129, member C 14702039,12886250,12477932 199786 NM_173544,NM_001098524,AC010618,CH471106,AA649002,AI688885,AK074069,AK097121,AY254197,AY254198,AY254199,BC033225,BC053606 Q86XR2,NP_775815,NP_001091994,EAW84615,EAW84616,EAW84617,EAW84618,EAW84619,EAW84620,BAB84895,BAC04955,AAO83574,AAO83575,AAO83576,AAH53606 Hs.434133 BCNP1|FLJ39802 protein-coding 1354159 FAM12A family with sequence similarity 12, member A Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. 1580863 7514008,15489334,12477932,11715855,9739419,9685187 10876 NM_006683,AL163636,CH471078,AA769825,BC069407,BC096698,BC096731,BC098164,BC098356,BC106711,BC106712,X76383 NP_006674,EAW66444,AAH69407,AAH96698,AAH96731,AAH98164,AAH98356,AAI06712,AAI06713,CAA53971,Q14507 Hs.304757 GDB:9958438 EP3A|HE3-ALPHA|HE3A|HE3ALPHA|MGC119614|MGC119615 protein-coding 1344731 FAM12B family with sequence similarity 12, member B (epididymal) Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. 1580863 12975309,11715855,9739419,9685187,7514008 64184 NM_022360,AL133371,AL163636,AX192189,CH471078,AI075915,AY358865,BC128030,BX112699,X76386 NP_071755,CAC51312,EAW66443,AAQ89224,AAI28031,CAC17141,P56851 Hs.525202 GDB:11510549 EP3B|HE3-BETA|HE3B protein-coding 1350520 FAM12CP family with sequence similarity 12, member C pseudogene 7514008 266643 NG_002367,X76387 GDB:11510551 HE3-GAMMA pseudo 1318958 FAM130A1 family with sequence similarity 130, member A1 15489334,15231748,12477932,9110174,8619474,16189514 81566 NM_030809,AC087884,CH471111,AB063302,AF052105,AJ298133,AK098442,BC017221,CR598042 NP_110436,EAW58173,BAB79451,CAC22252,AAH17221,Q9H175 Hs.524425 GDB:11505015 C12orf2|C12orf22|FLJ25576|TAIP-12 chromosome 12 open reading frame 22 protein-coding 1605039 FAM130A2 family with sequence similarity 130, member A2 15815621,14702039 80034 NM_024969,AC019140,CH471058,AB063300,AK021765,AK056655,AK126129 NP_079245,AAY24139,EAX11326,BAB79449,BAB13890,BAC86454,Q6ZTX3,Q8WYN3,Q9HAF9 Hs.470479 FLJ11703|FLJ32093|FLJ44141|TAIP-2|TAIP2 protein-coding 1606725 FAM131A family with sequence similarity 131, member A 14702039,12975309,12477932,15489334 131408 NM_144635,AC078797,CH471052,AK024378,AY358435,BC026221,BC037299,CR601623 NP_653236,EAW78251,EAW78252,EAW78253,EAW78254,EAW78255,EAW78256,AAQ88801,AAH26221,AAH37299,Q6UXB0 Hs.591307 C3orf40|FLAT715|MGC21688|PRO1378 protein-coding 1605421 FAM131B family with sequence similarity 131, member B 16344560,15489334,12853948,12477932,9872452 9715 NM_001031690,NM_014690,AC093673,CH236959,CH471198,AB018316,AK124557,AK291470,AL832579,BC045611,BC050543,DA226407 NP_001026860,NP_055505,AAS07501,EAL23787,EAW51853,EAW51854,EAW51855,EAW51856,EAW51857,BAA34493,BAF84159,CAD89938,AAH45611,AAH50543,O94871,Q86XD5 Hs.648908 KIAA0773 protein-coding 1606908 FAM131C family with sequence similarity 131, member C 16710414,16344560,16189514,15489334,14702039,12477932 348487 NM_182623,AL355994,CH471167,AK094085,AL529663,BC016848,BC037394,BG751253,DA112406 NP_872429,CAI16143,EAW51767,EAW51768,BAC04282,AAH16848,AAH37394,Q96AQ9 Hs.126825 C1orf117|FLJ36766|RP11-5P18.9 protein-coding 1603827 FAM132A family with sequence similarity 132, member A 12477932 388581 NM_001014980,AL162741,BC089443 NP_001014980,CAI23256,AAH89443,Q5T7M4 Hs.197613 C1QDC2|MGC105127 protein-coding 1606147 FAM132B family with sequence similarity 132, member B 14702039,12477932 151176 XM_001714385,XM_001715780,XM_001130886,AC016757,AK094353,BC031951,BC047423,BC063413 XP_001714437,XP_001715832,XP_001130886,AAY24335,BAC04336,AAH47423,Q4G0M1,Q4G127,Q8N9J7 Hs.24951 FLJ37034 protein-coding 1602817 FAM133A family with sequence similarity 133, member A 14702039,12477932 286499 NM_173698,AL009173,CH471115,AK094978,BC113385,BC113387 NP_775969,CAI42611,EAX02783,BAC04467,AAI13386,AAI13388,Q8N9E0 Hs.110069 FLJ37659|RP1-32F7.2 protein-coding 1606931 FAM133B family with sequence similarity 133, member B 16381901,15489336,12690205,12477932,11230166,11076863 257415 NM_152789,NM_001040057,AC005156,CH236949,CH471091,AK125498,AL833918,BC017874,BC032461,BC057771,BC062706,BC073952,BC090868,BU581457,CR625691 NP_690002,NP_001035146,EAL24147,EAW76831,EAW76832,EAW76833,EAW76834,EAW76835,EAW76836,CAD38774,AAH17874,AAH32461,AAH57771,AAH62706,AAH90868,Q5BKY9,CAL37870,CAL38741 Hs.18564,Hs.470311,Hs.489105 MGC40405 protein-coding 1315689 FAM134A family with sequence similarity 134, member A 17081983,16303743,16169070,15489334,14702039,12477932,11230166 79137 NM_024293,AC068946,CH471063,CQ782959,AK074983,AK091011,AL136758,AL832843,AL833630,BC002420,BC064950,BC115412,BC141851,BG700888,BG723788,BU615764,CR601842,CR605006,CR608654,CR621281 NP_077269,EAW70689,CAF86188,BAC11332,CAB66692,AAH64950,Q8NC44 Hs.516707 C2orf17|DKFZp686C2379|MGC3035 protein-coding 1601869 FAM134B family with sequence similarity 134, member B 17487424,12477932,9373149,8125298 54463 AK225371,AL832438,BC020603,BC030517,BC053326,BC073132,BG430512,NM_001034850,NM_019000,AC020980,AC022113,CH471102,AI261750,AK000159,AK024920,AK025808,AK025832 BAB15252,CAH10610,AAH30517,AAH53326,AAH73132,Q9H6L5,NP_001030022,NP_061873,EAX08022,EAX08023,BAA90982,BAB15034,BAB15241 Hs.481704 FLJ20152|FLJ22155|FLJ22179 protein-coding 1601713 FAM134C family with sequence similarity 134, member C 14702039,12477932,9373149,8125298,7490091 162427 NM_178126,AC067852,CH471152,AK057409,AK091125,AK225797,BC024980,BC049370,BX647175,BX648069,CR599112,CR621317,L38937 NP_835227,EAW60851,EAW60852,AAH49370,Q86VR2 Hs.632262 FLJ33806 protein-coding 1312650 FAM135A family with sequence similarity 135, member A 16381901,15489336,14702039,12477932,11230166,11076863,10718198,9373149,8125298 57579 NM_001105531,NM_020819,AL078591,AL365226,CH471051,AB037832,AJ420590,AK000183,AK001911,AK002067,AK023639,AK128547,AK225230,AL136820,BC030797,BC065767,BC131782,BM461890,CR749254,DB462733 NP_001099001,NP_065870,CAB89265,CAB89266,CAI42417,EAW48814,EAW48815,EAW48816,EAW48817,EAW48818,EAW48819,CAL38150,CAL38214,AAI46701,EAW48820,EAW48821,BAA92649,BAA90995,BAA92066,BAE46615,CAB66754,AAH65767,AAI31783,CAH18110,Q0JTE9,Q0JTL2,Q0JUE4,Q0JUE6,Q0JVE2,Q5JXJ9,Q9P2D6,CAL37518,CAL37865,CAL37867 Hs.211700 DKFZp781H2319|FLJ13577|KIAA1411 protein-coding 1606292 FAM135B family with sequence similarity 135, member B 16169070,14702039,12477932,9110174,8619474 51059 NM_015912,AC068467,AC087711,AC103777,CH471060,AB196635,AF131744,AK091433,BC037288,BC106912,BC106913,BX110118,CR457147,CR936831 NP_056996,EAW92189,EAW92190,EAW92191,BAE53437,AAD20030,AAH37288,AAI06913,AAI06914,CAG33428,Q49AJ0 Hs.126024 C8ORFK32|MGC126009|MGC126010|MGC33221 protein-coding 1605923 FAM136A family with sequence similarity 136, member A 15231747,11256614,16381901,15489336,14702039,12477932,11230166,11076863,9373149,8125298,16189514 84908 NM_032822,AC022201,CH471053,AK027574,AK225148,AK225151,AL833147,BC014975,BC026293,CR595145,CR596266,CR599147,CR602118,CR603527,CR612968,CR613530,CR614789,CR621809,CR623290,CR626290 NP_116211,AAX93110,EAW99815,EAW99816,BAB55208,AAH14975,Q0JTZ5,Q96C01,CAL38017 Hs.516077,Hs.708129 FLJ14668 protein-coding 1345211 FAM136B family with sequence similarity 136, member B 387071 NM_001012983,AL031963,CH471087 NP_001013001,EAW55113,Q5QPL7 C6orf87|dJ40E16.3 protein-coding 1603511 FAM139A family with sequence similarity 139, member A 14702039,12477932 285966 NM_173678,AC073264,AC106862,CH236959,CH471314,AK090395,AK098041,AL832734,AY167570,BC113530,BC117233 NP_775949,EAL23793,EAW50491,BAC03376,BAC05220,AAN87343,AAI13531,AAI17234,A6NFQ2 Hs.603748 FLJ40722|MGC142090 protein-coding 1320343 FAM13A1 family with sequence similarity 13, member A1 16964243,15302935,15234000,14702039,12477932,10048485,9314494 10144 NM_014883,NM_001015045,AC021183,AC079141,AC108065,CH471057,AB020721,AF009202,AK027138,AK091328,AK091787,AK091881,AK123724,BC033006,BC041029,BC053569,BC058029,BC063126,BC086875,BN000265,BX647410,CR610852,CR615111 NP_055698,NP_001015045,EAX06028,BAA74937,BAC03636,AAH63126,AAH86875,CAE18110,O94988,Q24JP0,Q5PR21,Q6P521 Hs.700690 FLJ34562|MGC105131 protein-coding 1344753 FAM13A1OS family with sequence similarity 13, member A1 opposite strand 15234000,14702039 285512 NR_002806,AC108065,AK093650,AK126217,BN000087 Hs.700690 FLJ36331 miscrna 1320881 FAM13C1 family with sequence similarity 13, member C1 16189514,15489334,12477932,9110174,8619474 220965 NM_198215,NM_001001971,AC025038,AL355474,CH471083,AI453702,AK289796,BC036453,BC064431,U79304 NP_937858,NP_001001971,CAI15708,CAI15709,CAI15710,EAW54187,EAW54188,EAW54189,EAW54190,EAW54191,EAW54192,EAW54193,BAF82485,AAH36453,AAH64431,AAB50228,Q5T630,Q5T631,Q5T632,Q6P2M3,Q8NE31,ABM85330,ABW03713 Hs.607594 MGC33233 protein-coding 1606712 FAM148A family with sequence similarity 148, member A 16341674,15527968 145741 NM_207322,AC104590,CH471082,AF504646,BF196228,BM742013,BX648578 NP_997205,EAW77609,AAM28197,Q8NCU7 Hs.202656 DKFZp686O2263|NLF1 protein-coding 1604924 FAM148B family with sequence similarity 148, member B 16344560,15527968,8889548 388125 NM_001007595,AC126323,AW292865,BM023530,BM127548,BM850957,BM974537,BQ101161,BX109954,DA584890 NP_001007596,A6NLJ0 Hs.144372 NLF2 protein-coding 1351171 FAM148C family with sequence similarity 148, member C 15527968,11853319 126567 XM_065166,XM_001718840,XM_939576,AC008988,CH471242,AB075837,AL834341,CR609064,CR616939 XP_065166,XP_001718892,XP_944669,EAW61200,BAB85543,CAD39008,Q8TF44 Hs.223770 KIAA1957|NLF3 protein-coding 1604030 FAM149A family with sequence similarity 149, member A 14702039,12477932,8889548 25854 NM_015398,NM_001006655,AC110771,CH471056,AF173894,AK057166,AL080065,BC110816,BC142992,BM543645,BM926763,BQ884007,BU609191,CR621440,H17463 NP_056213,NP_001006656,EAX04625,EAX04626,EAX04627,AAQ13641,CAB45695,AAI10817,AAI42993,A5PLN7,AAI43082,AAI43083 Hs.357025 DKFZP564J102|MST119|MSTP119 protein-coding 1351219 FAM149B1 family with sequence similarity 149, member B1 737633 14702039,12477932,10231032 737633 317662 XM_001722273,XM_001721910,XM_001723052,AC016394,CH471083,AB023191,AK023439,AK025189,BC015394 XP_001722325,XP_001721962,XP_001723104,EAW54482,BAA76818,AAH15394,Q96BN6 Hs.408577 KIAA0974 protein-coding 1344421 FAM14A family with sequence similarity 14, member A 1580863 15489334,15014966,14728724,12477932 83982 NM_032036,AL121838,CH471061,AF208232,AF238978,BC022800,BC032626,BE737110,BN000226 NP_114425,EAW81559,EAW81560,AAG35730,AAF65760,AAH22800,AAH32626,CAE00393,Q9H2X8 Hs.94695 ISG12B|MGC44913|TLH29 protein-coding 1347783 FAM14B family with sequence similarity 14, member B 1580863 15489334,15014966,14728724,12477932 122509 NM_206949,NM_145249,AL079302,CH471061,BC015423,BN000225 NP_996832,NP_660292,EAW81553,EAW81554,EAW81555,AAH15423,CAE00392,Q96BM0 Hs.19414 ISG12C protein-coding 1604440 FAM150A family with sequence similarity 150, member A 12975309 389658 NM_207413,AC013650,AY358213,BC130641,BC130643 NP_997296,AAQ88580,AAI30642,AAI30644,Q6UXT8 Hs.527111 MGC163513|MGC163515|UNQ9433 protein-coding 1602961 FAM150B family with sequence similarity 150, member B 12975309,11181995 285016 NM_001002919,AC079779,CH471053,AI300876,AI769402,AY358517,BC033490 NP_001002919,EAX01104,EAX01105,EAX01106,EAX01107,EAX01108,EAX01109,EAX01110,AAQ88881,AAI41486,AAI48770,Q6UX46 Hs.355207 PRO1097|RGPG542 protein-coding 1603341 FAM151A family with sequence similarity 151, member A 17273976,14702039,12975309,12477932 338094 NM_176782,AL590093,CH471059,AK091901,AY358629,BC015993,BC020874,BC073921 NP_788954,EAX06685,EAX06686,BAC03768,AAQ88992,AAH15993,AAH20874,AAH73921,Q5VUG6,Q8WW52 Hs.554944 C1orf179|MGC27169 protein-coding 1603888 FAM151B family with sequence similarity 151, member B 12975309 167555 NM_205548,AC008771,AC018764,CH471084,AY358256,BC131563,BC142990 NP_991111,EAW95854,EAW95855,EAW95856,AAQ88623,AAI31564,Q6UXP7 Hs.338182 UNQ9217 protein-coding 1603047 FAM152A family with sequence similarity 152, member A 15489334,12477932,10810093 51029 NM_016076,AC099757,AL451007,CH471148,AF151904,AF229834,AL049397,BC004485,BC020640,BC040608,BG290656,BI459676,CR626654,DB454981 NP_057160,CAH70879,CAH70880,EAW77114,EAW77115,EAW77116,EAW77117,AAD34141,AAF42919,AAH04485,AAH20640,Q5VVC7,Q8WUE8,Q9BSY9 Hs.498317 C1orf121|CGI-146|FLJ21998|PNAS-4 chromosome 1 open reading frame 121 protein-coding 1607044 FAM152B family with sequence similarity 152, member B 15461802,12477932,9110174,8619474 27351 NM_015704,AL023553,CH471095,Z83840,AF038183,BC093956,BC112179,CR456458,CR605156,CR605886 NP_056519,CAI20277,EAW60445,CAI17917,AAH93956,AAI12180,CAG30344,Q6ICB0 Hs.570455 D15Wsu75e|DJ347H13.4|MGC138384 protein-coding 1604707 FAM153A family with sequence similarity 153, member A 16344560,16189514,12477932,10508479,9872452 285596 NM_173663,AC140125,AB018295,AF155097,DA217331,DB043399,DB046513 NP_775934,BAA34472,AAD42863,Q9UHL3,AAI66656 Hs.646912,Hs.652754 KIAA0752|NY-REN-7 protein-coding 2292084 FAM153B family with sequence similarity 153, member B 14702039,12477932,9776767,16344560 202134 NM_001079529,AC139491,AK055006,AK289518,AL042735,AL117630,AW072245,BC028606,CD580216,DA224878,DB291737 NP_001072997,BAF82207,AAH28606,P0C7A2 Hs.646912,Hs.655683 DKFZp434D115 protein-coding 2289766 FAM153C family with sequence similarity 153, member C 14702039,12477932 653316 NM_001079527,XM_001716960,AC136632,AC136940,AK123124,BC101338,BC101339,BC101340,BC101341,BC131737,BC146883,BC146888 NP_001072995,XP_001717012,AAI01339,AAI01340,AAI01341,AAI01342,AAI31738,AAI46884,AAI46889,Q494X1 Hs.646916,Hs.652193 NY-REN-7-like protein-coding 1322281 FAM154A family with sequence similarity 154, member A 737633 12477932,15489334,15164053,14702039 737633 158297 NM_153707,AL158150,AL356000,CH471071,AK057474,AK292245,BC033489 NP_714918,CAH71465,CAH71466,CAH72135,EAW58654,BAF84934,AAH33489,Q5VZT6,Q8IYX7 Hs.98943 C9orf138|FLJ35283|MGC35182 protein-coding 1606117 FAM154B family with sequence similarity 154, member B 283726 NM_001008226,AC026624,CH471136,AL833762 NP_001008227,EAW99085,CAH56241,Q658L1 Hs.459117 DKFZp666G057 protein-coding 2293495 FAM155A family with sequence similarity 155, member A 8325628 728215 NM_001080396,AL136964,AL137219,AL138710,AL138914,AL359831,AL445204,AL445649,BC146878,BC157830,BC157855,BC157862,L10374 NP_001073865,AAI46879,AAI57831,AAI57856,AAI57863,Q5W0J2 Hs.535394 protein-coding 1350785 FAM155B family with sequence similarity 155, member B 1580863 27112 NM_015686,AL158069,CH471132,AF087142 NP_056501,EAX05363,EAX05364,AAC62086,O75949,Q8WX45 Hs.87619 CXorf63|TED|TMEM28|bB57D9.1|tmem28 transmembrane protein 28 protein-coding 1626581 FAM156B family with sequence similarity 156, member B 16382448 727866 NM_001099684,AL445236,AL772208,AX405861 NP_001093154,CAD34968 Hs.6451 FLJ33130|FLJ38843|TMEM29B protein-coding 1343449 FAM18A family with sequence similarity 18, member A 15146197 780776 NM_001079512,AC074136,AK124106,AL833564,BC050569,CN301583 NP_001072980,A6NH52 Hs.371576 YDR084C protein-coding 1314909 FAM18B family with sequence similarity 18, member B 1580863 15489334,12477932,10810093 51030 NM_016078,AC107982,AF151906,AF223467,AK128119,AK290813,BC008430,BX537929,BX648167,CR594215,CR600955,CR603456,CR611241,CR611637,CR618827 NP_057162,AAD34143,AAF64142,BAF83502,AAH08430,CAD97906,Q9NYZ1 Hs.87295 CGI-148|FLJ46240|NPD008|YDR084C protein-coding 1602059 FAM18B2 family with sequence similarity 18, member B2 12477932,16189514 201158 NM_145301,AC005517,AC005838,BC011952 NP_660344,AAH11952,Q96ET8 Hs.659357 MGC8763 protein-coding 1347131 FAM19A1 family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. 11256614,16381901,15489336,15489334,15028294,12477932,11230166,11076863 407738 NM_213609,AC092416,AC104167,AC104443,AC107626,AC126123,AC138390,AC139766,CH471055,AK289668,AK290446,AL713702,AY325114,BC025746,BX460561 NP_998774,EAW65460,BAF82357,BAF83135,CAD28501,AAP92406,AAH25746,Q0JRY0,Q7Z5A9,CAL38734 Hs.655061 TAFA-1|TAFA1 protein-coding 1345895 FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. 15489334,15028294,12477932 338811 NM_178539,AC020647,AC078789,AC078872,AC130414,AC137053,CH471054,AK123580,AL834160,AW161831,AY325115,BC028403,BC040286,BC050347,CR749367 NP_848634,EAW97100,EAW97101,EAW97102,CAD38865,AAP92407,AAH28403,AAH40286,CAH18220,Q8N3H0 Hs.269745 DKFZp761E1217|DKFZp781P0552|MGC42403|TAFA-2|TAFA2 protein-coding 1354085 FAM19A3 family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. 16710414,15028294,12477932,12107411 284467 NM_001004440,NM_182759,AL603832,CH471122,AY325116,AY325119,BC112268,BC117479,BQ638101 NP_001004440,NP_877436,CAI14063,CAI14064,EAW56548,EAW56549,AAP92408,AAP92411,AAI12269,AAI17480,Q2M1P9,Q7Z5A8 Hs.439116 MGC138473|RP11-426L16.6|TAFA-3|TAFA3 protein-coding 1345564 FAM19A4 family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. 15489334,15028294,14702039,12477932 151647 NM_182522,NM_001005527,AC096922,AC104166,AC109587,CH471055,AK057890,AY325117,BC031566 NP_872328,NP_001005527,EAW65463,EAW65464,BAB71606,AAP92409,AAH31566,Q96LR4 Hs.187873 FLJ25161|TAFA-4|TAFA4 protein-coding 1342880 FAM19A5 family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. 15489334,15028294,12975309,12477932,10591208,9110174,8889548,8619474 25817 NM_015381,NM_001082967,AL096843,AL096853,BX927063,CH471138,Z83837,Z84468,AF131851,AK123443,AK125256,AY325118,AY358847,BC039396,BU739734,DB481230 NP_056196,NP_001076436,EAW73462,EAW73463,AAD20061,AAP92410,AAQ89206,AAH39396,Q7Z5A7 Hs.436854,Hs.632788 QLLK5208|TAFA-5|TAFA5|UNQ5208 protein-coding 1314939 FAM20A family with sequence similarity 20, member A 15676076,14702039,12975309,12477932 54757 NM_017565,AC079210,CH471099,AF447872,AK056789,AL133105,AY358197,BC036222,BC136686,BC136689,CR597331 NP_060035,EAW89066,AAQ04647,BAB71285,CAB61412,AAQ88564,AAH36222,AAI36687,AAI36690,Q71MG5,Q8IYA5,Q96MK3 Hs.268874 DKFZp434F2322|FP2747 protein-coding 1322474 FAM20B family with sequence similarity 20, member B 737633 16428749,15676076,15489334,12477932,11483207,10760811,9455484,9455477 737633 9917 NM_014864,AL139132,CH471067,AB007944,AF418978,AK289989,BC046441,BC051794 NP_055679,CAH70923,CAH70924,EAW91034,EAW91035,EAW91036,BAA32320,AAL07502,BAF82678,AAH46441,AAH51794,O75063,Q5W0C3,Q5W0C4 Hs.5737,Hs.77961,Hs.510635,Hs.709368 protein-coding 1323719 FAM20C family with sequence similarity 20, member C 17924334,17369251,15676076,15489334,14702039,12690205,12477932 56975 NM_020223,AC093627,AC145676,CH236966,CH471144,AF533706,AK054704,AL390147,BC009531,BC040074,BC087853 NP_064608,EAL23705,EAW87149,EAW87150,EAW87151,EAW87152,EAW87153,EAW87154,EAW87155,EAW87156,EAW87157,AAQ09019,CAB99089,AAH40074,AAH87853,Q8IXL6 Hs.134742,Hs.632006 DMP4|RNS protein-coding 1344345 FAM21A family with sequence similarity 21, member A 414163 1603151 FAM21A family with sequence similarity 21, member A 14702039,12477932 387680 NM_001005751,AL442003,AL450382,AK001686,AK055424,AL080183,BC064639,BC065500,BC075815,BC082258 NP_001005751,CAH72493,CAH72494,CAM17004,CAI15869,CAM22317,BAA91836,CAB45765,AAH65500,AAH75815,AAH82258,Q5VW23,Q5VW24,Q641Q2,Q9NVB8,Q9Y4N4 Hs.645272 bA56A21.1 protein-coding 1352446 FAM21B family with sequence similarity 21, member B 16344560,15146197,14702039,8889549,8889548 55747 NM_018232,AL954360,AA147749,AK125147,BE744488,BQ060891,BU690083,CN314884,CR994976,CX762870,DA313442,DA402580,DA466642,DC403380 NP_060702,CAI17187,CAI17188,Q5SNT6,Q5SNT8,Q6P0Q7 Hs.365286,Hs.449662,Hs.645272 FAM21A|bA98I6.1 protein-coding 1349964 FAM21C family with sequence similarity 21, member C 17081983,16964243,16713569,15489334,15302935,15164054,15144186,14702039,12477932,9628581 253725 NM_015262,AC012044,AL645998,AL731535,AB011164,AI356516,AK001545,AK291430,AL050279,BC006456,BC039561,BC053887,CR623639 NP_056077,CAI16355,CAI16356,CAI15257,CAI15258,BAA25518,BAF84119,CAB43380,AAH06456,Q9Y4E1 Hs.365286,Hs.449662 FAM21A|KIAA0592 protein-coding 1346618 FAM21D family with sequence similarity 21, member D 653450 XM_370557,AL672187 XP_370557,CAI16093,Q5SRD0 bA592B15.4 protein-coding 1602054 FAM22A family with sequence similarity 22, member A 12477932 728118 NM_001099338,AL157893,BC033231,BC092519,EG328792 NP_001092808,CAH72466,Q5VZW1 Hs.701044 protein-coding 1346368 FAM22B family with sequence similarity 22, member B 729262 XM_001133075,XM_001723434,AL132656 XP_001133075,XP_001723486 Hs.662805 bA119F19.1 protein-coding 1343965 FAM22C family with sequence similarity 22, member C 727807 XM_001125950,AL603703 XP_001125950,CAI16680,Q5SWS2 protein-coding 1344165 FAM22D family with sequence similarity 22, member D 15164054 728130 NM_001009610,AL645612,AB095940 NP_001009610,CAH70666,CAH70667,BAC23116,Q5VT03,Q8IVF1 Hs.701044,Hs.710565 KIAA2020 protein-coding 1353494 FAM22E family with sequence similarity 22, member E 12477932 283008 XM_925903,AL135925 XP_930996,Q96LH7 protein-coding 1342942 FAM22F family with sequence similarity 22, member F 12477932 54754 NM_017561,AL691447,AL133071,BC130390 NP_060031,CAI13277,CAI13278,CAB61394,AAI30391,Q5SR57,Q5SR58,Q5SR59,Q5VZR3,Q9UFB1 Hs.648183 DKFZp434I1117|MGC163262 protein-coding 1351697 FAM22G family with sequence similarity 22, member G 15164053 441457 NM_001045477,AL158827 NP_001038942,CAH72567,CAH72568,Q5VZR2 Hs.652383 protein-coding 1349731 FAM23A family with sequence similarity 23, member A 15164054 653567 NM_001098844,AL139238 NP_001092314,CAH70871,Q5W0B7 Hs.564139 bA16O1.2 protein-coding 1606400 FAM23B family with sequence similarity 23, member B 15164054 340843 NM_001013629,AL928729,CH471072 NP_001013651,CAH70732,EAW86206,Q5VSJ3 Hs.450483 bA162I21.2 protein-coding 1345285 FAM23B family with sequence similarity 23, member B 414193 1342610 FAM24A family with sequence similarity 24, member A 118670 NM_001029888,AC073585,CH471066 NP_001025059,EAW49299,A6NFZ4 Hs.369829 protein-coding 1352359 FAM24B family with sequence similarity 24, member B 737633 15489334,12975309,12477932 737633 196792 NM_152644,AC073585,CH471066,AL832386,AV762334,BC031343,BG490871,CB410280,AL832795 NP_689857,EAW49301,AAH31343,Q8N5W8,CAI46166 Hs.114648 DKFZp667I0323|MGC45962 protein-coding 1347345 FAM25A family with sequence similarity 25, member A 15164054 643161 XM_926530,XM_001723781,AL136982 XP_931623,XP_001723833,CAI17119,Q5VTM1 bA96C23.5 protein-coding 1343588 FAM25B family with sequence similarity 25, member B 414202 AL391137 CAI12205,Q5VTM1 bA144G6.8 protein-coding 1352936 FAM25C family with sequence similarity 25, member C 414203 AL603966 CAI12334,Q5VTM1 bA164N7.4 protein-coding 1348711 FAM25D family with sequence similarity 25, member D 414205 1346045 FAM25E family with sequence similarity 25, member E 414204 1349843 FAM25G family with sequence similarity 25, member G 414206 AL591684 CAH72202,Q5VTM1 bA301J7.4 protein-coding 1352546 FAM25HP family with sequence similarity 25, member H pseudogene 414207 1347189 FAM26A family with sequence similarity 26, member A 15489334,15164054,12477932 119395 XM_001725818,XM_001723060,XM_001725622,AL139339,BC039499,BC043367 XP_001725870,XP_001723112,XP_001725674,CAH71485,AAH39499,AAH43367,Q86XJ0 Hs.364624 bA225H22.7 protein-coding 1317957 FAM26B family with sequence similarity 26, member B 1580863 15489334,15164054,14702039,12477932,9110174,8619474 51063 NM_015916,AL139339,CH471066,AF131810,AK022195,BC000039,CR614833 NP_057000,CAH71483,EAW49633,EAW49634,EAW49635,EAW49636,EAW49637,EAW49638,AAD20050,BAB13983,AAH00039,Q9HA72 Hs.241545 protein-coding 1603161 FAM26C family with sequence similarity 26, member C 15489334,15164054,12477932 255022 NM_001001412,AL139339,CH471066,BC036193,BC036208 NP_001001412,CAH71484,EAW49632,AAH36193,AAH36208,Q8IU99 Hs.680365 MGC39514|MGC39617 protein-coding 1314099 FAM26D family with sequence similarity 26, member D 15489334,14702039,14574404,12975309,12477932 221301 NM_153036,AL121953,CH471051,AK056801,AY358252,BC057769 NP_694581,CAI21552,EAW48223,EAW48224,BAB71288,AAQ88619,AAH57769,Q5JW98 Hs.350750 C6orf78|FLJ32239 chromosome 6 open reading frame 78 protein-coding 1321291 FAM26E family with sequence similarity 26, member E 15489334,14702039,14574404,12477932 254228 NM_153711,AL121953,CH471051,AK023730,AK094140,BC032556,BM478960,BQ001005 NP_714922,CAI21549,EAW48226,Q8N5C1 Hs.660142 C6orf188|MGC45451|dJ493F7.3 chromosome 6 open reading frame 188 protein-coding 1605771 FAM26F family with sequence similarity 26, member F 14574404 441168 NM_001010919,CH471051,Z84488,AF086130 NP_001010919,EAW48228,CAI23411,CAI23412,CAI23413,Q5R3K2,Q5R3K3,Q5R3K4 Hs.381220 C6orf187|RP1-93H18.5|dJ93H18.5 protein-coding 1604129 FAM27A family with sequence similarity 27, member A 15164053,12477932,8889548 548321 NM_001024942,AL953889,AK131029,BC002886,BU740628,DR002944 NP_001020113,CAI16780,Q5VT28,Q9BU53 Hs.651534,Hs.651611 FAM27A1|MGC11241|bA7G23.5 protein-coding 1625807 FAM27B family with sequence similarity 27, member B 548323 AL627230 CAH70358 FAM27A2|bA12A20.3 protein-coding 1625809 FAM27C family with sequence similarity 27, member C 548320 AL391987 CAH73097 FAM27A3|bA374M1.5 protein-coding 1625832 FAM27D1 family with sequence similarity 27, member D1 724094 NM_001098809,AL162731,AL773537 NP_001092279,CAI13103,CAH71857,Q5T7N8,Q5VSL6 protein-coding 1602282 FAM27L family with sequence similarity 27-like 15489334,12477932 284123 NM_203392,AC138761,CH471221,BC031617 NP_976326,EAW49114,AAH31617,Q8N5T8 Hs.348578 MGC35151 protein-coding 1320176 FAM29A family with sequence similarity 29, member A 737633 16964243,16565220,16381901,15489336,15489334,15164053,14702039,12477932,11230166,11076863,10997877,9373149,8125298 737633 54801 NM_017645,AL356000,AL591206,CH471071,AB046794,AF533709,AF537091,AK000067,AK022964,AK023068,AK056458,AK225209,AL832495,BC010632,BC026178,BC065935,BC071625,BC111041,BC113981,BC114492 NP_060115,CAH72132,CAH72133,CAI12262,CAI12263,CAI12264,EAW58652,BAB13400,AAQ09022,AAN05700,BAA90922,BAB14334,BAB14388,AAH10632,AAH26178,AAH65935,AAH71625,AAI11042,AAI13982,AAI14493,Q05CG1,Q0JT19,Q14CB6,Q2TA91,Q5SYF9,Q5VY60,Q7Z4H7,CAL38345 Hs.533468 MGC102696|MGC138798|MGC138799|RP11-296P7.3 protein-coding 1347792 FAM30A family with sequence similarity 30, member A 12477932,11042152 29064 BC030286,AF150199,AF161538,BC016766 AAH30286,AAF29025,AAH16766,Q05C13,Q05DB7,Q9NZY2 Hs.649259 C14orf110|HSPC053|c14orf110 chromosome 14 open reading frame 110 protein-coding 1316761 FAM32A family with sequence similarity 32, member A 11256614,16381901,15489336,15489334,12477932,11230166,11076863,10810093 26017 AC020911,CH471106,AF151902,AL050157,BC000639,BC004447,BC017286,CR594783,CR594996,CR597639,CR599994,CR601203,CR603364,CR603593,CR605955,CR606857,CR607046,NM_014077,CR608983,CR614913,CR621715,CR623049,CR625672,CR625808 NP_054796,EAW84536,EAW84537,EAW84538,AAD34139,CAB43298,AAH00639,AAH04447,AAH17286,Q0JSG9,Q9Y421,CAL38426,CAL38545 Hs.631614 protein-coding 1343080 FAM32B family with sequence similarity 32, member B 399656 1316064 FAM33A family with sequence similarity 33, member A 737633 17093495,16344560,15489334,14702039,12477932 737633 348235 NM_182620,NM_001100595,AC099850,CH471109,AK022820,AK056473,BC017873,BC106003,BQ019350,CR605288,CR615257,DA133216,DB158057 NP_872426,NP_001094065,EAW94420,EAW94421,EAW94422,EAW94423,AAH17873,AAI06004,Q8WVK7 Hs.463607 FLJ12758|MGC110975|Ska2 protein-coding 1351570 FAM33B family with sequence similarity 33, member B 414304 AC006313 protein-coding 1354134 FAM35A family with sequence similarity 35, member A 15489334,15164054,14702039,12477932,9110174,8619474 54537 NM_019054,AL136982,AL645992,AF131775,AK022978,AK025471,AK025606,BC051863 NP_061927,CAH70756,CAH70757,AAD20041,BAB14342,AAH51863,Q5VSZ0,Q86V20 Hs.500419 FAM35A1|MGC5560|bA163M19.1 protein-coding 1342608 FAM35AP family with sequence similarity 35, member A pseudogene 406877 1350093 FAM35B family with sequence similarity 35, member B 414241 AL356056 CAH73269,Q5VY54 bA38L15.1 protein-coding 2292064 FAM35B2 family with sequence similarity 35, member B2 439965 NG_006523,BX649215 pseudo 1319259 FAM36A family with sequence similarity 36, member A 737633 16710414,15489334,14702039,12477932,8889548 737633 116228 BX323046,CH471148,AF086182,AK000866,AK125259,AK130498,AL122072,BC018519,BC062419,BC064399,BC095486,BG708903,BU732247,CR592197,NM_198076 CAI11052,CAI11053,EAW77120,EAW77121,EAW77122,EAW77123,EAW77124,AAH18519,AAH62419,AAH95486,Q5RI15,NP_932342 Hs.411490 FLJ43269 protein-coding 1346278 FAM36B family with sequence similarity 36, member B 414247 1318815 FAM38A family with sequence similarity 38, member A 737633,1580863 17081983,16854388,16565220,14702039,12477932,9039502 737633 9780 XM_001714598,XM_001714313,XM_001717096,AC138028,CH471184,CQ834400,AB161230,AK092007,BC008073,BC016983,BC141877,BC150271,CR605984,CR608234,D87071 XP_001714650,XP_001714365,XP_001717148,EAW66773,CAH05415,BAF03565,AAH08073,AAI50272,BAA13240,Q92508,Q96HU3 Hs.513807 Mib protein-coding 1345467 FAM38B family with sequence similarity 38, member B 1580863 14702039 63895 NM_022068,AP001180,AK026797,AK027056 NP_071351,BAB15556,BAB15641,Q9H5I5,AAI48380 Hs.585839 FLJ23144|FLJ23403|HsT748 protein-coding 1606389 FAM39DP family with sequence similarity 39, member D pseudogene 14702039,12477932,11701968,10655549 374666 NM_199163,NR_003659,AC140725,AF282037,AK056232,AK057951,AK095183,AK097269,BC063470,BC063555,BC063682,BC067227,BC110991,BI830790,BI830792,BM839085,BQ935819,BQ937971,BX452679,CR595252,CR601154,CR602007,CR604794,CR605448,CR614102,CR614532,CR617972,CR620495,CR622124,CR622318 NP_954632,AAH63682 Hs.459573 FLJ25222 pseudo 1349782 FAM3A family with sequence similarity 3, member A 8281148,8248200,15772651,15489334,12477932,12160727,8733135 60343 NM_021806,BX664739,CH471172,L44140,X55448,AK024601,AK057945,AK124890,BC002934,BC008912,CR592995,CR596755,CR599837,CR601813,CR603934,CR607874,CR610052,CR614091,CR614821,CR622301,CR623687,CR624398,CR626062,X74610,X87193 NP_068578,CAI43239,CAI43240,CAO03625,CAO03626,CAO03627,EAW72688,EAW72689,EAW72690,EAW72691,EAW72692,EAW72693,EAW72694,EAW72695,EAW72696,AAA92652,CAA39090,AAH02934,AAH08912,CAA60645,P98173,Q5HY75,Q9BU27 Hs.289108 GDB:11508383 2-19|2.19|DXS560S|XAP-7 protein-coding 1323237 FAM3B family with sequence similarity 3, member B 12160727,16249448,16114871,15489334,12975309,12477932,11707072,10830953 54097 NM_058186,NM_206964,AL773578,CH471079,AF375989,AF494379,AJ409094,AK125528,AY040086,AY358459,BC036314,BC057829,BF514643,BI712971,CR590284,CR614130,CR626702 NP_478066,NP_996847,EAX09608,EAX09609,EAX09610,AAL34495,AAM94280,CAC83974,AAK74134,AAQ88824,AAH57829,P58499 Hs.473877,Hs.670704 GDB:11504687 2-21|C21orf11|C21orf76|ORF9|PANDER|PRED44 protein-coding 1345832 FAM3C family with sequence similarity 3, member C This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. Alternate transcriptional splice variants which encode the same protein have been characterized. 1580863 12160727,16959614,16406369,16344560,16215274,15985535,15489334,15252450,12853948,12477932,9847074 10447 NM_014888,NM_001040020,AC079401,CH236947,CH471070,CS079683,AK290682,AK292731,BC024200,BC046932,BC068526,CA446040,D87120,DA144459,DA489351,DA501135,DQ786255 NP_055703,NP_001035109,EAW83558,CAI94481,BAF83371,BAF85420,AAH24200,AAH46932,AAH68526,BAA13251,Q92520 Hs.434053 GDB:11508385 GS3786|ILEI protein-coding 1313583 FAM3D family with sequence similarity 3, member D 1580863 12160727,16740002,15489334,12975309,12477932,8889548 131177 NM_138805,AC119424,CH471055,AF494381,AK127546,AW662283,AY358677,BC015359,CA314533 NP_620160,EAW65382,AAM94282,AAQ89040,AAH15359,Q547G2,Q96BQ1 Hs.61265 GDB:11508387 EF7|OIT1 protein-coding 1352338 FAM40A family with sequence similarity 40, member A 17081983,16964243,16710414,15489334,15302935,14702039,12588993,12477932,11214970,17353931 85369 BC019919,BC032644,BC040142,BC067239,BC094786,BC119814,BC121793,CB960147,CR600424,NM_033088,AL160006,AL772411,CH471122,AB051548,AK027649,AK098023,AK125054,AK125944,AK291059,AL834196 CAH56368,AAH19919,AAH32644,AAH94786,AAI19815,AAI21794,Q5VSL9,Q6ZU72,Q8WUN4,NP_149079,CAI22715,CAI22716,EAW56428,EAW56429,BAB21852,BAB55265,BAC86034,BAC86354,BAF83748 Hs.584996 FLJ14743|KIAA1761|MGC148091|RP4-773N10.1 protein-coding 1344527 FAM40B family with sequence similarity 40, member B 16381901,15489336,15489334,12588993,12477932,11076863,10574461 57464 NM_020704,AC009244,CH236950,CH471070,AB032996,AK290165,BC019064 Q0JT39,Q0JUI9,Q0JVG3,Q9ULQ0,CAL37497,CAL37822,CAL37838,CAL38325,NP_065755,EAL24101,EAW83719,EAW83720,BAA86484,BAF82854,AAH19064 Hs.489988 protein-coding 1353463 FAM41AY family with sequence similarity 41, member A, Y-linked 737633 12477932 737633 340618 BC042981 Hs.434364 protein-coding 1353260 FAM41BY family with sequence similarity 41, member B, Y-linked 414324 1342738 FAM41C family with sequence similarity 41, member C 737633 12477932 737633 284593 XM_496333,XM_936761,AL669831,BC047940 XP_496333,XP_941854 Hs.449006 protein-coding 1349860 FAM42B family with sequence similarity 42, member B 388159 XM_370893 1343774 FAM43A family with sequence similarity 43, member A 737633 15498874,15489334,14702039,12477932,7829101 737633 131583 NM_153690,AC046143,CH471052,AF147314,AF289585,AK074503,BC039689,BC064989,BG107959,BG110772,BI494721,BM561125,BQ009970,CR594580,CR611019 NP_710157,EAW78033,AAL55769,BAC11027,AAH39689,AAH64989,Q8N2R8 Hs.708232 FLJ90022 protein-coding 1346194 FAM43B family with sequence similarity 43, member B 16710414,14702039,12477932 163933 NM_207334,AL391357,AK126900,BC015675,BC142610,BC142686,CR613318,CR622255 NP_997217,CAH73473,BAC86742,AAI42611,AAI42687,Q6ZT52 Hs.429179 FLJ44952 protein-coding 1344806 FAM44A family with sequence similarity 44, member A 17081983,15489334,14702039,12477932,10718198 259282 NM_148894,AC006445,CH471069,AB037748,AF528529,AK025361,AK025965,AK090534,AK122806,AL137350,AL137652,BC016987,BC043603,BC065546,BC087835,BX648206,CR614809 NP_683692,EAW92716,BAA92565,AAM94279,BAB15299,CAB70705,AAH16987,AAH65546,AAH87835,Q8NFC6 Hs.444517 FLJ33215|KIAA1327 protein-coding 1348370 FAM44B family with sequence similarity 44, member B 737633 17938248,15489334,12477932 737633 91272 AC010339,NM_138369,CH471062,AY303777,BC003114,BC007436,CR592937,CR599483,CR607873 NP_612378,EAW61396,AAP76182,AAH03114,AAH07436,Q96IK1 Hs.425091 BOD1 protein-coding 1345757 FAM44C family with sequence similarity 44, member C 737633 15489334,12477932 737633 284257 NG_005659,AC100775,AK127964,BC021740,BC035018 AAH21740,AAH35018,Q8IYS8 Hs.127882 MGC33608 pseudo 1344685 FAM45A family with sequence similarity 45, member A 15489334,14702039,12477932 404636 NM_207009,AL355598,CH471066,AF168713,AK000031,AK025354,AK027029,BC022271,BI753197,BU622639,CA414818,CR609883 NP_996892,EAW49405,EAW49406,EAW49407,AAF87315,BAA90894,AAH22271,Q5T5X5,Q8TCE6,Q9NRV0 Hs.434241 protein-coding 1346862 FAM45B family with sequence similarity 45, member B 737633 15489334,12477932,10931946 737633 55855 NM_018472,CH471107,Z82195,AF220185,BC069821 NP_060942,EAX11798,CAI42520,AAF67650,AAH69821,Q5H9G7,Q6NSW5 Hs.710142 HT011 protein-coding 1604353 FAM46A family with sequence similarity 46, member A 17803723,16924696,16713569,16545789,16344560,15489334,15231748,14702039,14574404,12477932,12054608,16189514 55603 AL078599,CH471051,AF350451,AI131001,AJ420583,AJ420591,AJ420592,AK000044,AK056057,AK096704,AK292109,AY740520,NM_017633,BC000683,BC007351,BX648876,DA981608 NP_060103,CAB65981,CAI23543,CAI23544,CAI23545,EAW48691,EAW48692,AAM53071,BAA90903,BAF84798,AAW66943,AAH00683,AAH07351,Q5TF85,Q96IP4 Hs.10784 C6orf37|FLJ20037|FLJ31495|XTP11 protein-coding 1344774 FAM46B family with sequence similarity 46, member B 737633 16713569,16710414,16189514,15489334,14702039,12477932 737633 115572 NM_052943,AL356390,CH471059,AK122816,BC012790,BC014160,BC036320 NP_443175,CAI13555,EAX07777,AAH12790,AAH14160,Q96A09,ABM84423,ABW03574 Hs.632378 MGC16491|MGC20845|RP11-344H11.8 protein-coding 1352086 FAM46C family with sequence similarity 46, member C 737633 16710414,16189514,15489334,14702039,12477932 737633 54855 AL046016,BC036516,BC131726,CD300120,NM_017709,AL365331,CH471122,AK000209,AK091327 AAH36516,AAI31727,Q5VWP2,NP_060179,CAH73761,EAW56679,BAA91010 Hs.356216 FLJ20202 protein-coding 1348599 FAM46D family with sequence similarity 46, member D 737633 16189514,15772651,15489334,12477932 737633 169966 AK128147,BC028710,BC030784,BC034979,BX537938,NM_152630,AL591431,CH471104 AAH28710,AAH30784,AAH34979,CAD97909,Q8NEK8,ABM81772,ABM84926,NP_689843,CAH69981,EAW98586 Hs.367959 MGC26999 protein-coding 1347430 FAM47A family with sequence similarity 47, member A 737633 15772651,15489334,12477932 737633 158724 NM_203408,AL591625,CH471074,AK292354,BC026171 NP_981953,CAI41438,EAW99068,BAF85043,AAH26171,Q5JRC9 Hs.143268 MGC27003 protein-coding 1344119 FAM47B family with sequence similarity 47, member B 737633 15772651,15489334,14702039,12477932 737633 170062 NM_152631,AL645585,CH471074,AK093101,BC035026 NP_689844,CAI41598,EAW99072,BAC04056,AAH35026,Q8NA70 Hs.197801 FLJ35782 protein-coding 1605768 FAM47C family with sequence similarity 47, member C 442444 NM_001013736,BX842568,AK125992 NP_001013758,CAI40150,BAC86381,Q5HY64,Q6ZU46 Hs.535216 protein-coding 1343879 FAM48A family with sequence similarity 48, member A 737633 16751104,16713569,16685401,16344560,15978328,15498874,15489334,15057823,14702039,12477932,12070015,11340631,9373149,8125298 737633 55578 BC030686,CR625667,DA593337,CH471075,AF093250,AF370384,AF445026,AJ130894,AK026091,AK027554,AK056121,AK093723,AK225376,AK292376,BC001145,NM_001014286,NM_017569,AL138706,AL391383 AAH01145,AAH30686,Q0D2Q4,Q8NEM7,Q8WYR6,ABM82547,ABM87825,CAI15193,EAX08582,EAX08583,EAX08584,EAX08585,EAX08586,AAD40550,AAQ15220,AAL38587,CAB62207,BAF85065,NP_001014308,NP_060039,CAI14005 Hs.435815 C13|C13orf19|FP757|P38IP|bA421P11.4 protein-coding 1344534 FAM48B1 family with sequence similarity 48, member B1 170067 Q3ZLR7 XM_001131038,AC004552,AC096509,AY736017 XP_001131038,AAW59547,Q3ZLR7 Hs.558786 protein-coding 1347213 FAM48B2 family with sequence similarity 48, member B2 646212 XM_293352,AC096509 XP_293352 protein-coding 1348694 FAM49A family with sequence similarity 49, member A 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 81553 NM_030797,AC008164,AC104623,CH471053,AK001942,AK055334,AK091280,AL136704,BC038971,CR533504,CR595597,CR609359,CR616311 NP_110424,AAY24282,EAX00878,EAX00879,CAB66639,AAH38971,CAG38535,Q53QW2,Q9H0Q0,CAL37916,CAL38652 Hs.467769 DKFZP566A1524|FLJ11080|FLJ33961 protein-coding 1354500 FAM49B family with sequence similarity 49, member B 15489334,15334068,14702039,12477932,11042152 51571 NM_016623,AC022973,CH471060,AF208851,AK001226,AK002059,AK130372,AY364259,AY598320,BC003599,BC016345,BC017297,CR594067,CR597917,CR616846,CR749628 NP_057707,EAW92125,EAW92126,EAW92127,EAW92128,AAF64265,BAA91566,BAA92062,AAQ76818,AAT06731,AAH03599,AAH16345,AAH17297,CAH18422,Q3ZTR9,Q68D08,Q9NUQ9,Q9NW21 Hs.126941 BM-009|DKFZp686B04128|L1 protein-coding 1344714 FAM50A family with sequence similarity 50, member A 1580863 10534398,9339379,16381901,15772651,15489336,15489334,12477932,11076863,9039504,8733135 9130 NM_004699,BX936365,CH471172,D83389,L44140,AD001530,AK293119,BC000028,BC015499,CR597867,CR612868,CR614465,CR619686,CR623814,CR625912,D83260 NP_004690,CAI43193,EAW72704,EAW72705,EAW72706,EAW72707,EAW72708,BAA11907,AAA92649,AAB81663,BAF85808,AAH00028,AAH15499,BAA11871,Q0JTF9,Q14320,Q6PJH5,CAL38203 Hs.54277 9F|DXS9928E|HXC-26|XAP5 protein-coding 1352003 FAM50B family with sequence similarity 50, member B 1580863 16189514,15489334,12477932,10534398 26240 NM_012135,AL391422,CH471087,Y18504,BC001261,CR590152,CR597441,CR600946,CR602326,CR605415,CR623120,Y18503 Q9Y247,NP_036267,CAI13995,EAW55142,EAW55143,CAB46273,AAH01261,CAB46272 Hs.140944 D6S2654E|X5L protein-coding 1350190 FAM51A2P family with sequence similarity 51, member A2 pseudogene 446206 1604984 FAM53A family with sequence similarity 53, member A 15489334,14702039,12477932,11984880,8889548 152877 NM_001013622,AC016773,CH471131,AK125566,BC042071,BC070112,BM676712 NP_001013644,EAW82581,EAW82582,BAC86205,AAH70112,Q6NSI3 Hs.143314 DNTNP protein-coding 1350576 FAM53B family with sequence similarity 53, member B 737633 15489334,14702039,12477932,12107410,8590280 737633 9679 AC068896,AL136232,AL513190,CH471066,AK127323,AK127343,AW504054,BC031654,BX344666,CA397342,CR607450,CR621076,D50930,NM_014661 NP_055476,CAH70375,CAH70376,EAW49259,EAW49260,EAW49261,EAW49262,BAC86930,AAH31654,BAA09489,Q14153,Q5VUW1,Q5VUW2,Q6ZSL8 Hs.129195 KIAA0140|RP11-12J10.2|bA12J10.2 protein-coding 1354003 FAM53C family with sequence similarity 53, member C 15489334,15302935,14702039,12477932,11161817,11087669 51307 NM_016605,AC104116,CH471062,AF251040,AK027412,BC000259,BC052993 NP_057689,EAW62143,EAW62144,AAF63766,AAH00259,AAH52993,Q9NYF3 Hs.54056 C5orf6 protein-coding 1344625 FAM54A family with sequence similarity 54, member A 16344560,15489334,14702039,14574404,12477932 113115 NM_001099286,NM_138419,AL121713,AL138828,CH471051,AA830483,AK125758,AK292303,BC011716,BC063688,BG831782,DB016393 NP_001092756,NP_612428,CAI17907,CAI17908,CAI17909,CAI95284,CAI95285,EAW47953,EAW47954,EAW47955,BAC86277,BAF84992,AAH11716,AAH63688,Q5JWR6,Q5JWR8,Q6P444 Hs.121536 DUFD1 protein-coding 1606533 FAM54B family with sequence similarity 54, member B 16381901,16344560,15489336,15221005,14702039,12477932,11230166,11076863,9110174,8889548,8619474 56181 NM_001099625,NM_001099627,NM_019557,NM_001099626,AL020996,CH471059,AB075880,AF173891,AK056721,AK127164,AK290744,AL512766,AY007100,BC017175,BI545005,BI769886,BM968565,BX647921,CR593585,CR606265,CR609063,CR618060,CR625612,DB170641 NP_001093095,NP_001093097,NP_062457,NP_001093096,EAX07865,EAX07866,EAX07868,BAD38662,AAQ13638,BAF83433,CAC21683,AAH17175,CAH56194,Q63HP1,Q7Z2S7,Q9H019,Q9NUI7,CAL38353 Hs.323396 HYST1888|MST116|MSTP116 protein-coding 1352335 FAM55A family with sequence similarity 55, member A 737633 12477932 737633 120400 NM_152315,AC020549,CH471065,AI347274,BC029049,BC037844,BX648601 NP_689528,EAW67251,EAW67252,AAH29049,Q8N323,ABM81780,ABM84934 Hs.668531 MGC34290 protein-coding 1349773 FAM55B family with sequence similarity 55, member B 12477932 120406 XM_001725989,XM_001725616,XM_001725952,AP002774,CH471065,AK057953,BC111797 XP_001726041,XP_001725668,XP_001726004,EAW67255,BAB71621,AAI11798,Q96DL1,AAI48386,AAI56725 Hs.446760 FLJ25224 protein-coding 1348429 FAM55C family with sequence similarity 55, member C 737633 14702039,12975309,12477932 737633 91775 NM_145037,AC020651,AC084198,CH471052,AF173890,AK054664,AK289689,AY358207,BC009431,CR602317 ABW03881,NP_659474,EAW79774,EAW79775,AAQ13637,BAB70787,BAF82378,AAQ88574,AAH09431,Q969Y0,ABM87416 Hs.659526 FLJ30102|MGC15606|MST115|MSTP115 protein-coding 1350536 FAM55D family with sequence similarity 55, member D 16344560,15375555,14702039,12975309,9373149,8125298 54827 NM_001077639,NM_017678,AC020549,CH471065,AK000134,AK225236,AY358805,AY547307,DA428771 NP_001071107,NP_060148,EAW67253,EAW67254,BAA90965,AAQ89165,AAS55888,Q6UWF7 Hs.179100 C11orf33|FLJ20127 protein-coding 1605629 FAM57A family with sequence similarity 57, member A 16143812,15489334,14702039,12621583,12477932,12270127,1227012 79850 NM_024792,AC087392,CH471108,AF477201,AK025935,AK125146,AK292065,BC009729,BC026023 NP_079068,EAW90655,EAW90656,EAW90657,AAM90843,BAB15286,BAF84754,AAH09729,AAH26023,Q8TBR7 Hs.154396 CT120|FLJ22282 protein-coding 1605610 FAM57B family with sequence similarity 57, member B 11256614,16381901,15498874,15489336,15489334,12477932,11230166,11076863 83723 NM_031478,AC093512,CH471238,AF370365,AL136777,AL535138,BC007892,CR604281,CR614964,CR615686 NP_113666,EAW79937,EAW79938,EAW79939,AAQ15201,CAB66711,AAH07892,Q0JSK0,Q0JUP7,Q71RH2,CAL37764,CAL38514 Hs.558560 DKFZP434I2117|FP1188 protein-coding 1604257 FAM58A family with sequence similarity 58, member A 18297069,16381901,15489336,12477932,11076863 92002 NM_152274,AF274858,CH471172,AY445048,BC001909,BC007232,BC032121,BC071851,CR591949,CR604685,CR609517,CR623450,DQ323993 NP_689487,EAW72851,EAW72852,EAW72853,EAW72854,EAW72855,EAW72856,EAW72857,AAS20614,AAH01909,AAH07232,AAH32121,AAH71851,ABC88595,Q2I380,Q8N1B3,CAL38542 Hs.496943 MGC29729 protein-coding 1603153 FAM58B family with sequence similarity 58, member B 15897902 339521 NM_001105517,AL590126,CH471067 EAW91309,NP_001098987 Hs.705355 protein-coding 1342843 FAM59A family with sequence similarity 59, member A 737633 15951569,15592455,15489334,14702039,12477932 737633 64762 NM_022751,AC009835,AC015563,AC021224,CH471088,AK025263,AK025660,AL834491,BC005074,BC121067,BC121068 NP_073588,EAX01286,EAX01287,BAB15094,CAD39149,AAH05074,AAI21068,AAI21069,Q9H706 Hs.444314 C18orf11|Gm944 chromosome 18 open reading frame 11 protein-coding 1603263 FAM59B family with sequence similarity 59, member B 150946 XM_097977,XM_940578,AC011742,AB015349,AB124552,AK090454 XP_097977,XP_945671,BAA88120,BAC99057,BAC03435,Q75VX8,Q8NF27,Q9UIK8 Hs.187912 FLJ00375|KIAA2038 protein-coding 1605645 FAM5B family with sequence similarity 5, member B 16710414,15489334,14702039,12477932,11214970,9110174,8619474 57795 AL021398,AL022143,CH471067,AB051534,AB161694,AF131833,AK098386,AK123336,AL035289,BC028036,NM_021165 NP_066988,EAW91009,BAB21838,BAD34946,AAD20055,BAC85583,CAA22893,AAH28036,Q9C0B6 Hs.495918 BRINP2|DBCCR1L2|FLJ41342|KIAA1747|RP5-1026E2.1 protein-coding 1606655 FAM5C family with sequence similarity 5, member C 18430236,17903301,17138656,16710414,16018821,15489334,12477932 339479 NM_199051,AL354771,AL365402,AL391645,CH471067,AB111893,AK123024,AK123637,BC105052,BC105054,U67037 NP_950252,CAI15426,CAI15441,EAW91222,BAD04066,AAI05053,AAI05055,AAD09521,Q76B58 Hs.65765 BRINP3|DBCCR1L|DBCCR1L1|RP11-445K1.1 protein-coding 1347576 FAM60A family with sequence similarity 60, member A 737633 16381901,16189514,15489336,15489334,15334068,14702039,12477932,11230166,11076863,11042152 737633 58516 NM_021238,AC024940,AX014855,CH471116,AF087885,AF212220,AK026932,AL157432,AY598323,BC000024,BC004462,BC071966,BX648630 NP_067061,EAW88561,EAW88562,EAW88563,EAW88564,EAW88565,EAW88566,EAW88567,AAP97184,AAF87322,BAB15592,CAB75656,AAT06734,AAH00024,AAH04462,AAH71966,Q0JU19,Q9NP50,CAL37992 Hs.505154 C12orf14|L4|TERA chromosome 12 open reading frame 14 protein-coding 733690 FAM62A family with sequence similarity 62 (C2 domain containing), member A 17672888,15592455,15489334,14702039,12477932,10350628,9872452,9373149,8125298,14743216 23344 NM_015292,AC034102,CH471054,AB018290,AK022790,AK025463,AK025878,AK074368,AK128730,AK225035,AK290337,AL050134,BC004998,BC013880,CR609232,CR621596,DQ993200 NP_056107,EAW96890,EAW96891,EAW96892,EAW96893,BAA34467,BAB15139,BAB15268,BAF83026,CAB43284,AAH04998,ABJ97705,Q9BSJ8 Hs.632729 KIAA0747|MBC2 protein-coding 1606520 FAM62B family with sequence similarity 62 (C2 domain containing) member B 17672888,16396496,15489334,15302935,14702039,12690205,12477932,12168954,11543631,10574462 57488 NM_020728,AC019084,CH236954,CH471149,AB033054,AJ303365,AK001181,AK026710,AK056953,AK124091,AK126214,AL833233,AY368150,BC013957,DQ993201 NP_065779,EAL23931,EAX04590,EAX04591,BAA86542,CAC33887,BAA91539,BAC85769,BAC86489,CAH10642,AAR89381,AAH13957,ABJ97706,A0FGR8,AAI52807 Hs.490795 CHR2SYT|ESYT2|KIAA1228 protein-coding 1605327 FAM62C family with sequence similarity 62 (C2 domain containing), member C 17672888,16344560,15238157,12477932,11543631,10737800 83850 NM_031913,AC022497,AJ303366,AJ697972,AK125080,AK289530,AW792835,BC037292,BQ435892,DA726011,DQ993202 NP_114119,CAC33888,BAC86045,BAF82219,AAH37292,ABJ97707,A0FGR9 Hs.477711 CHR3SYT protein-coding 1603985 FAM63A family with sequence similarity 63, member A 15231747,16344560,14702039,12477932,10718198 55793 NM_018379,NM_001040217,CR594376,DA677196,AL590133,CH471121,AB037811,AK002142,AK125493,AK125959,BC014447,BC032321,BC075812 NP_060849,Q5SZE9,Q5SZF0,Q8N5J2,Q9NUL9,Q9P2F7,NP_001035307,CAI13336,EAW53491,EAW53492,EAW53493,EAW53494,EAW53495,BAA92628,BAA92104,AAH32321 Hs.3346 FLJ11280|FLJ43504|RP11-316M1.5 protein-coding 1607025 FAM63B family with sequence similarity 63, member B 16344560,14702039,12477932,10574461 54629 NM_001040450,NM_001040453,AC090515,CH471082,AB032990,AB075509,AK022891,AK075319,AL049226,AL833610,BC035563,BC060514,DA248971,DB523031 NP_001035540,NP_001035543,EAW77544,EAW77545,EAW77546,EAW77547,EAW77548,BAA86478,BAE45756,BAC11545,Q3LIB2,Q6P9Z9,Q8NBR6,Q9ULQ6 Hs.591122 KIAA1164 protein-coding 1604005 FAM64A family with sequence similarity 64, member A 15489334,14702039,12477932,9373149 54478 NM_019013,AC055872,CH471108,AK001018,AK001353,AK225613,AK225702,BC005004,BC013966,CR590914,CR593554,CR599536,CR599575,CR601708,CR603545,CR607871,CR611543,CR615122,CR615617,CR615844,CR617626 NP_061886,EAW90306,EAW90307,EAW90308,EAW90309,BAA91468,BAA91644,AAH05004,AAH13966,Q9BSJ6 Hs.592116 FLJ10156|FLJ10491 protein-coding 1606508 FAM65A family with sequence similarity 65, member A 15302935,14702039,12477932,11572484 79567 BC012730,BC041086,BC054512,BC098587,NM_024519,AC027682,CH471092,AB067517,AK023787,AK097087,AK127792,AL834312,BC001850 AAH01850,AAH54512,AAH98587,Q6ZS17,NP_078795,EAW83138,EAW83139,EAW83140,EAW83141,BAB67823,BAB14678,BAC87139,CAD38982 Hs.152717 FLJ13725|KIAA1930 protein-coding 1602394 FAM66C family with sequence similarity 66, member C 14702039,12477932 440078 XM_001127975,AK096301,BC034777,BC048994 XP_001127975 Hs.512257 protein-coding 1605163 FAM66E family with sequence similarity 66, member E 441342 XM_499105,AF228730 XP_499105 protein-coding 1603475 FAM69A family with sequence similarity 69, member A 16710414,15489334,12477932 388650 NM_001006605,AC093577,AL162740,AL449283,CH471097,AK027146,AL536469,BC070342,CR600872,DB475309 NP_001006606,CAI22507,EAW73086,AAH70342,Q5T7M9 Hs.180946 FLJ23493 protein-coding 1602652 FAM69B family with sequence similarity 69, member B 12477932 138311 NM_152421,AL355987,AL590226,CH471090,AF318355,AJ420457,BC032097 NP_689634,CAI12696,CAI12700,CAH71724,CAH71725,EAW88253,EAW88254,AAL55862,AAH32097,Q5VUD6,Q5VUD7 Hs.495480 C9orf136|MGC20262|pp6977 protein-coding 1349970 FAM6A family with sequence similarity 6, member A 11352565 282696 AF307337 1352451 FAM6B family with sequence similarity 6, member B pseudogene 11352565 282697 AF307337 1605993 FAM70A family with sequence similarity 70, member A 16344560,15772651,15489334,14702039,12477932 55026 NM_001104545,NM_001104544,NM_017938,AC002086,AL512286,CH471107,AF450484,AK000723,AK056403,AK289684,BC047054,DA758358,DB165640 NP_001098015,NP_001098014,NP_060408,EAX11887,EAX11888,EAX11889,EAX11890,AAP97678,BAA91341,BAF82373,AAH47054,Q5JRV7,Q5JRV8,Q7Z4S8 Hs.437563 FLJ20716|RP3-525N14.6 protein-coding 1602045 FAM70B family with sequence similarity 70, member B 15489334,15057823,12477932 348013 NM_182614,XM_001715788,BX072579,BX088578,CH471085,BC018995 NP_872420,XP_001715840,CAH71172,CAI15047,EAX09225,AAH18995,Q8WV15 Hs.280805 MGC20579|RP11-199F6.1 protein-coding 1606700 FAM71A family with sequence similarity 71, member A 16710414,15489334,14702039,12477932 149647 NM_153606,AL590648,CH471100,AK057358,BC035007 NP_705834,CAH72658,EAW93382,AAH35007,Q8IYT1 Hs.129293 FLJ32796|RP11-338C15.4 protein-coding 1606142 FAM71B family with sequence similarity 71, member B 14702039,12477932 153745 AF465821,AK057543,AY973323,BC022035,BC025397,BC025409,BC025998,NM_130899,AC010609,CH471062 EAW61609,AAL77003,BAB71526,AAY41236,AAH22035,AAH25397,AAH25409,AAH25998,Q8TC56,Q8TEW9,NP_570969 Hs.666099 MGC26988 protein-coding 1606688 FAM71C family with sequence similarity 71, member C 16189514,15489334,12477932 196472 NM_153364,AC141554,CH471054,BC031221 NP_699195,EAW97617,AAH31221,Q8NEG0 Hs.591011 MGC39520 protein-coding 1353197 FAM71D family with sequence similarity 71, member D 15489334,14702039,12477932 161142 NM_173526,AL135978,CH471061,AK093449,BC037380,BC050401 NP_775797,EAW80927,BAC04169,AAH50401,Q8N9W8 Hs.412818 C14orf54|FLJ36130|c14orf54 chromosome 14 open reading frame 54 protein-coding 1604551 FAM71E1 family with sequence similarity 71, member E1 12477932 112703 CR611414,CR615589,NM_138411,AC020909,CH471135,AK125745,AK131032,BC004941,BC012203,BC071737 AAH71737,Q6IPT2,NP_612420,EAW71867,EAW71868,EAW71869,EAW71870,AAH04941,AAH12203 Hs.448941 FLJ27522|FLJ43757 protein-coding 1606759 FAM71F1 family with sequence similarity 71, member F1 18317470,14702039,12477932 84691 NM_032599,AC018638,AC024952,AC093183,CH236950,CH471070,AF367470,AK093161,BC032842,BC037248,BC040906,BG723812 NP_115988,EAW83670,AAK53406,BAC04080,AAH32842,AAH37248,Q49AR3,Q8NA48,Q96KD3 Hs.131098 FAM137A|NYD-SP18 protein-coding 1604702 FAM71F2 family with sequence similarity 71, member F2 17672918,12690205,12477932 346653 NM_001012454,AC018638,AC093183,CH236950,CH471070,BC047310,BC066973,BC105729,BC105730,BC105731,BI828876 NP_001012457,EAL24114,EAW83666,AAH47310,AAH66973,AAI05730,AAI05731,AAI05732,Q6NXP2 Hs.445236 FAM137B protein-coding 1626688 FAM72A family with sequence similarity 72, member A 12477932 729533 XM_001133363,XM_001133365,XM_001133364,NM_001123168,CR407567,BC035696 XP_001133363,XP_001133365,XP_001133364,NP_001116640,CAH72364,CAH72365,CAH72366,AAH35696 Hs.599880 MGC46651|MGC57827|RP11-312O7.1 protein-coding 1625813 FAM72B family with sequence similarity 72, member B 12477932 653820 NM_001100910,AL357493,BC046199 NP_001094380,CAI14136,CAI14137,CAI14138,CAI14139,AAH46199 Hs.339665 RP11-439A17.6 protein-coding 1625814 FAM72C family with sequence similarity 72, member C 554282 AL109948 CAI23570 RP5-998N21.9 protein-coding 1626691 FAM72D family with sequence similarity 72, member D 728833 XM_001128582,CR589924 XP_001128582,CAM28367,CAM28368 Hs.661924 protein-coding 1605523 FAM73A family with sequence similarity 73, member A 14702039 374986 NM_198549,AC114487,AC138392,CH471059,AK092412,BC130387,BX537792,BX641170 NP_940951,EAX06364,BAC03880,AAI30388,CAD97844,CAE46075,Q8NAN2 Hs.632419 DKFZp686M07166|FLJ35093 protein-coding 1322047 FAM73B family with sequence similarity 73, member B 16303743,14702039,12477932 84895 NM_032809,AL592211,CH471090,AJ420465,AK027502,AK054974,AK074127,AK075421,BC009114,CR595780,CR619458 NP_116198,CAI12367,CAQ10246,EAW87861,EAW87862,EAW87863,EAW87864,EAW87865,EAW87866,BAB55159,BAB70835,BAB84953,BAC11611,AAH09114,Q7L4E1,Q96NP4 Hs.632693 C9orf54|FLJ00199|FLJ14596 protein-coding 1625851 FAM74A3 family with sequence similarity 74, member A3 728495 NM_001098718,AL353770 NP_001092188,CAI95182,Q4VXF1 Hs.647179 protein-coding 2292058 FAM74A5 family with sequence similarity 74, member A5 653809 XR_038008 pseudo 2293176 FAM74A7 family with sequence similarity 74, member A7 100133021 XM_001718398,AL445584 XP_001718450 protein-coding 1606852 FAM75A2 family with sequence similarity 75, member A2 642265 NM_001040065,BX664726 NP_001035154,CAI17100,Q5RGS2 Hs.575677 protein-coding 1603719 FAM75A3 family with sequence similarity 75, member A3 727830 NM_001083124,AL353770,AL080148 NP_001076593,CAH73359,CAB45741,Q5VYP0 Hs.632078 DKFZp434B204 protein-coding 1625823 FAM75A4 family with sequence similarity 75, member A4 642629 XM_001714924,XM_001714927,XM_001714938,AL596385 XP_001714976,XP_001714979,XP_001714990,CAI95396,Q4VX67 protein-coding 1603417 FAM75A5 family with sequence similarity 75, member A5 727905 XM_001715076,XM_001715083,XM_001715093,NM_001113541,AL590491 XP_001715128,XP_001715135,XP_001715145,NP_001107013,CAH70549,Q5VU36 Hs.645497 protein-coding 1349918 FAM75B family with sequence similarity 75, member B 404770 NM_001098807,AL158047 NP_001092277,CAH73247,Q5VZV4 Hs.584122 C9orf36B|bA388B24.2 chromosome 9 open reading frame 36b protein-coding 1626193 FAM75C1 family with sequence similarity 75, member C1 14702039 441452 XM_212241,AL353572,AK093374 XP_212241 Hs.652956 FLJ36055 protein-coding 1604511 FAM76A family with sequence similarity 76, member A 16710414,15489334,14702039,12477932 199870 NM_152660,AL020997,CH471059,AK098318,AK290120,AL035307,AL035309,BC025768 NP_689873,CAI20567,CAI20568,CAI20569,CAI20570,CAI20573,EAX07740,EAX07741,EAX07742,EAX07743,BAC05285,BAF82809,CAA22912,CAA22914,AAH25768,Q8TAV0 Hs.705845 MGC34648|RP3-426I6.1 protein-coding 1605286 FAM76B family with sequence similarity 76, member B 17203973,17081983,16381901,16189514,15489336,15489334,15302935,14702039,12477932,11230166,11076863 143684 NM_144664,AP001877,CH471065,AK021591,AW118814,BC026013,BC028727,BG718983,BX647586 NP_653265,EAW66962,EAW66963,EAW66964,AAH26013,AAH28727,CAI46088,Q0JUM7,Q5HYJ3,CAL37784,ABM82140,ABM85323 Hs.288304 MGC33371 protein-coding 1354321 FAM78A family with sequence similarity 78, member A 737633 15489334,15164053,14702039,12477932,11214971 737633 286336 NM_033387,AL157938,CH471090,AK024434,AK095423,BC029924,BC037559,BC049388 NP_203745,CAI41113,CAI41114,CAI41115,EAW87964,EAW87965,BAB15724,AAH29924,AAH49388,Q5JUQ0,Q5JUQ1,AAI52843,AAI56766 Hs.143878,Hs.704076 C9orf59|FLJ00024|RP11-544A12.6 chromosome 9 open reading frame 59 protein-coding 1604229 FAM78B family with sequence similarity 78, member B 16710414,15489334,12477932 149297 NM_001017961,AL596087,CH471067,AL626787,BC114214,BF510138,CR613414 NP_001017961,EAW90771,AAI14215,Q5VT40 Hs.493518 MGC131653 protein-coding 1353055 FAM7A1 family with sequence similarity 7, member A1 89838 GDB:11508800 1350534 FAM7A2 family with sequence similarity 7, member A2 12477932,11829490,8889549 89839 NM_001039841,AC091057,BC105788 NP_001034930,AAI05789,Q3KRB8 Hs.659621 GDB:11508801 D-X|MGC104367 protein-coding 1347776 FAM7A3 family with sequence similarity 7, member A3 12477932,11829490 89837 XM_930882,AC120045,BC023564,BC071855 XP_935975 Hs.510848 GDB:11508802 D-X protein-coding 1345013 FAM7A4 family with sequence similarity 7, member A4 89836 GDB:11508803 1347848 FAM7A5 family with sequence similarity 7, member A5 89835 GDB:11508804 1353114 FAM7B1 family with sequence similarity 7, member B1 89834 GDB:11508805 1606921 FAM80A family with sequence similarity 80, member A 16710414,15489334,12477932 284716 NM_173642,AL513331,CH471059,CS061180,BC039737,BX094947,DR000262 NP_775913,EAX07161,CAI79368,AAH39737,Q8IXN7 Hs.420244 MGC47816|RP11-157D18.1 protein-coding 1606518 FAM80B family with sequence similarity 80, member B 16344560,15489334,12477932,10574462 57494 BC006368,BC015879,BC021977,BC033793,CR595615,DA712243,NM_020734,AC092490,CH471116,AB033064,AW196581 AAH21977,AAH33793,Q9ULI2,NP_065785,EAW88609,EAW88610,EAW88611,BAA86552 Hs.504670 KIAA1238 protein-coding 1603268 FAM81A family with sequence similarity 81, member A 15489334,12477932 145773 AC091748,AC092754,CH471082,NM_152450,AL110257,BC022537 NP_689663,EAW77569,EAW77570,AAH22537,Q8TBF8 Hs.531168 MGC26690 protein-coding 1603176 FAM81B family with sequence similarity 81, member B 15489334,14702039,12477932 153643 NM_152548,AC008573,AC090071,CH471084,AK058062,BC034772,BM560335 NP_689761,EAW96035,EAW96036,BAB71646,AAH34772,Q96LP2 Hs.276287 FLJ25333 protein-coding 1605570 FAM82A family with sequence similarity 82, member A 18070910,14702039,12975309,12477932 151393 AF435956,AK057516,AK095462,AY358269,BC024243,BR000689,BR000692,NM_144713,AC009229,AC016689,AF450129,CH471053 EAX00386,EAX00387,AAM20907,BAB71517,BAC04551,AAQ88636,AAH24243,FAA00414,FAA00417,Q96LZ7,NP_653314,AAX88865,AAM81211,EAX00384,EAX00385 Hs.591566 BLOCK18|FLJ32954|FLJ38143|MGC33318|PRO34163|PYST9371|RMD2|hRMD-2|hRMD-4 protein-coding 1606009 FAM82B family with sequence similarity 82, member B 18070910,15489334,15342556,12477932,10810093 51115 NM_016033,AC103817,CH471060,AF151848,AK000672,BC008509,BC009671,BP199284,BP234465,BR000690,BX640636 NP_057117,EAW91638,EAW91639,AAD34085,AAH09671,FAA00415,CAE45784,Q6N086,Q96DB5 Hs.145386 CGI-90|FLJ20665|RMD-1|RMD1 protein-coding 1602700 FAM82C family with sequence similarity 82, member C 17353931,18070910,16820967,15609043,15324660,14702039,12975309,12477932 55177 NM_018145,AC012476,AJ242719,CH471125,AB000782,AK001441,AK025963,AK090731,AK092058,AK097286,AK123192,AK123282,AY358793,BC008970,BC063844,BR000691,CR605566 NP_060615,CAC39480,EAW92436,EAW92437,EAW92438,EAW92439,EAW92440,EAW92441,BAB46923,BAA91693,BAB15298,BAC85554,AAQ89153,AAH08970,AAH63844,FAA00416,Q96TC7 Hs.511067 FLJ10579|RMD3|hRMD-3|ptpip51 protein-coding 1602845 FAM83A family with sequence similarity 83, member A 16354590,14702039,12477932 84985 AF497803,AK095301,AK098407,CH471060,BC007828,BC052300,BQ927762,DQ280322,DQ280323,NM_207006,NM_032899,AC068228 EAW92023,EAW92024,AAQ07260,EAW92022,BAC05299,AAH07828,AAH52300,ABB91800,ABB91801,Q86UY5,NP_996889,NP_116288 Hs.379821 BJ-TSA-9|MGC14128 protein-coding 1323733 FAM83B family with sequence similarity 83, member B 14702039,12477932 222584 NM_001010872,AL049555,AL512363,CH471081,AK055204,BC101628,BC112275 NP_001010872,CAI21667,EAX04439,BAB70873,AAI01629,AAI12276,Q5T0W9 Hs.657974 C6orf143|FLJ30642|MGC126677|MGC138480 chromosome 6 open reading frame 143 protein-coding 1344185 FAM83C family with sequence similarity 83, member C 14702039,12477932,11780052 128876 NM_178468,CH471077,AK091116,AK091138,BC113483 NP_848563,EAW76218,BAC03594,AAI13484,Q14D67,Q9BQN1 Hs.592149 GDB:11505100 C20orf128|MGC142043|dJ614O4.7 chromosome 20 open reading frame 128 protein-coding 1347604 FAM83D family with sequence similarity 83, member D 16565220,15489334,14702039,12477932,11780052 81610 NM_030919,AL023803,CH471077,AK055793,AK095660,BC001068,BC006553,BC053683,BC063661,BC080188,CR594147 NP_112181,CAI22033,EAW76008,BAB71016,AAH01068,AAH06553,AAH53683,AAH63661,AAH80188,Q68EN1,Q6P457,Q7Z6H0,Q9H4H8 Hs.472716 GDB:11505102 C20orf129|FLJ38341|dJ616B8.3 protein-coding 1606549 FAM83E family with sequence similarity 83, member E 15851553,12477932 54854 BC111972,CD722642,NM_017708,AC008403,AC022154,CH471177,AK000207,BC111970 AAI11971,AAI11973,Q2M2I3,NP_060178,EAW52356,BAA91009 Hs.165803 FLJ20200|MGC138175|MGC138177 protein-coding 1602306 FAM83F family with sequence similarity 83, member F 12477932 113828 NM_138435,CH471095,Z82206,Z83847,BC011204,BC031099 NP_612444,EAW60365,EAW60366,CAI42715,AAH11204,AAH31099,Q8NEG4 Hs.197680 protein-coding 1606850 FAM83G family with sequence similarity 83, member G 17353931,16964243,16625196,15489334,15146197,14702039,12477932,8889548 644815 NM_001039999,AC090286,AK123558,BC105988,BX365956,BX402942,CF138357,CN370352,CR735308,CX165458,DN831927,DY655105 NP_001035088,BAC85645,AAI05989,A6ND36 Hs.710727 FLJ41564 protein-coding 1603342 FAM83H family with sequence similarity 83, member H 18252228,15146197,12477932,8889548 286077 AK127960,BC007264,BC033256,BE856638,BM982083,CN272849,NM_198488,AC105219,AF370424 BAC87207,AAH07264,AAH33256,Q6ZRV2,Q71RB4,NP_940890,AAQ15260 Hs.67776,Hs.703688 AI3|FLJ46072 protein-coding 1602648 FAM84A family with sequence similarity 84, member A 16820875,15815621,15489334,14702039,12477932 151354 NM_145175,AC011897,CH471053,AF370404,AJ417080,AK092654,BC026346,BC029933,BC052284 ABM84573,ABM87694,ABM87854,NP_660158,AAY15041,EAX00905,AAQ15240,CAD10038,BAC03938,AAH26346,AAH52284,Q71RD3,Q8NAG4,Q96KN4,ABM84299 Hs.260855 FLJ35392|NSE1|PP11517 protein-coding 1606136 FAM84B family with sequence similarity 84, member B 12477722,16490593,15489334,12477932 157638 AJ417849,AK074285,BC033717,BC052957,CR590690,NM_174911,AC084116,CH471060 CAD10629,AAH52957,Q96KN1,NP_777571,EAW92090 Hs.124951 BCMP101|NSE2 2292709 PRSTS2_H protein-coding 1626194 FAM85A family with sequence similarity 85, member A 619423 AC145124 protein-coding 1603258 FAM86A family with sequence similarity 86, member A 16189514,15489334,12477932 196483 NM_201598,NM_201400,AC026458,CH471112,AY037162,BC010084,BF314717,BG683728,BQ215173,BQ921410,CA495371 NP_963892,NP_958802,EAW85229,EAW85230,EAW85231,EAW85232,EAW85233,EAW85234,EAW85235,EAW85236,EAW85237,EAW85238,EAW85239,AAK67640,AAH10084,Q96G04 Hs.406461 MGC19636|SB153 protein-coding 1605607 FAM86B1 family with sequence similarity 86, member B1 16344560,14702039,12477932 85002 NR_003494,NM_001083537,AC145124,AK098138,AL529666,BC048297,BC062615,BC085016,BC093808,BC093810,BC098427,BE729618,CR622002,DA552021 NP_001077006,BAC05241,AAH98427,Q8N7N1,Q96HX9 Hs.458413,Hs.567527 MGC104828|MGC16279 protein-coding 1626585 FAM86B2 family with sequence similarity 86, member B2 653333 XM_928336,XM_001715289,AC087203 XP_933429,XP_001715341,P0C5J1,Q4KMP3 Hs.647128 protein-coding 1602694 FAM86C family with sequence similarity 86, member C 16189514,14702039,12477932 55199 NM_001099653,NM_018172,NM_152563,AP002495,CH471076,AK001523,AK130709,BC032519,BQ921333,DC312827 NP_001093123,NP_060642,NP_689776,EAW74795,EAW74796,EAW74797,EAW74798,EAW74799,EAW74800,EAW74801,EAW74802,BAA91739,AAH32519,Q9NVL1 Hs.567527 FLJ10661|FLJ27199|MGC45068 protein-coding 1602732 FAM86D family with sequence similarity 86, member D 12477932 692099 CR604218,XR_017899,XR_017820,AC139453,BC016686,BC043342,BC068011,BC068108,BC094682 Hs.591652 protein-coding 1602979 FAM87A family with sequence similarity 87, member A 12477932 157693 XM_001719709,XM_001721137,AC136777,BC037297,XM_001719631 XP_001719761,XP_001721189,XP_001719683 Hs.591390 protein-coding 1606075 FAM87B family with sequence similarity 87, member B 14702039 400728 XM_001719643,XM_001713962,XM_001721145,AC136777,AL669831,CH471181,AK097327 XP_001719695,XP_001714014,XP_001721197,EAW51456,EAW51457,BAC04999,Q8N852 Hs.591390 FLJ40008 protein-coding 1602405 FAM89A family with sequence similarity 89, member A 16710414,15489334,12477932 375061 NM_198552,AL732414,BC009447,CR590053,CR590371,CR598847,CR611018,CR613855,CR617492 NP_940954,CAH73704,AAH09447,Q96GI7 Hs.38516 C1orf153|MGC15887|RP11-423F24.2 protein-coding 1606565 FAM89B family with sequence similarity 89, member B 15489334,12477932,11958456,10512749,9525630,9110174,8619474 23625 NM_001098784,NM_001098785,NM_152832,AP001362,AF052151,BC023991,BC032373,BE394215,BQ927525,CR610230,CR612503,CR615607,CR616644,DR001553 NP_001092254,NP_001092255,NP_690045,AAH23991,AAH32373,Q8N5H3 Hs.25723 MTVR1 protein-coding 1351875 FAM8A1 family with sequence similarity 8, member A1 1580863 15489334,15144186,14574404,12477932,11707071 51439 AF097026,AL138824,NM_016255,CH471087,AF086479,AF097027,AK074301,AL050128,BC047881 NP_057339,AAF07849,CAI12251,EAW55382,EAW55383,AAF07850,AAH47881,Q9UBU6 Hs.95260 GDB:11503335 AHCP|FLJ23721 protein-coding 1343456 FAM8A2P family with sequence similarity 8, member A2 pseudogene 11707071 114178 AF315800 GDB:11503321 pseudo 1350392 FAM8A3P family with sequence similarity 8, member A3 pseudogene 11707071 114179 AF315797 GDB:11503324 pseudo 1348074 FAM8A4P family with sequence similarity 8, member A4 pseudogene 11707071 114180 AF315801 GDB:11503326 pseudo 1351379 FAM8A5P family with sequence similarity 8, member A5 pseudogene 11707071 114181 NG_001298,AF315798 GDB:11503329 pseudo 1342521 FAM8A6P family with sequence similarity 8, member A6 pseudogene 11707071 114182 NG_001299,AF315799,AL078590 GDB:11503331 pseudo 1343399 FAM8A7P family with sequence similarity 8, member A7 pseudogene 12815422 386725 NG_003134,AC016749 pseudo 1350260 FAM8A8P family with sequence similarity 8, member A8 pseudogene 12815422 386726 NG_003135,AC002992 pseudo 1344549 FAM8A9P family with sequence similarity 8, member A9 pseudogene 12815422,9847074 386727 NG_003136,AC007678 pseudo 1605664 FAM90A1 family with sequence similarity 90, member A1 16344560,14702039,12477932 55138 NM_018088,AC092111,CH471116,AK001270,BC042608,DA088850 NP_060558,EAW88629,EAW88630,BAA91593,AAH42608,Q86YD7 Hs.196086 FLJ10408 protein-coding 1602388 FAM90A10 family with sequence similarity 90, member A10 441328 XM_496957,AC084121 XP_496957,A6NDY2 protein-coding 1605165 FAM90A11 family with sequence similarity 90, member A11 441331 NG_006010,AC105233 FAM90A11P pseudo 1604127 FAM90A12 family with sequence similarity 90, member A12 16421571 645879 XM_928853,AC105233 XP_933946,A8MX19 protein-coding 1605169 FAM90A13 family with sequence similarity 90, member A13 441314 XM_496946,AF228730 XP_496946 protein-coding 1604669 FAM90A14 family with sequence similarity 90, member A14 645651 XM_928665,AC084121 XP_933758 protein-coding 1604443 FAM90A15 family with sequence similarity 90, member A15 389630 XM_001726945,AF228730 XP_001726997 protein-coding 1605168 FAM90A16 family with sequence similarity 90, member A16 441323 XM_496952,AC084121 XP_496952,A6NEW6 protein-coding 1604856 FAM90A17 family with sequence similarity 90, member A17 728746 XM_001129363,AC084121 XP_001129363 protein-coding 1605167 FAM90A18 family with sequence similarity 90, member A18 441326 AC084121,XM_496955 A6NE21,XP_496955 protein-coding 1604855 FAM90A19 family with sequence similarity 90, member A19 728753 XM_001129368,AC084121 XP_001129368,A6NE21 protein-coding 1605741 FAM90A20 family with sequence similarity 90, member A20 728430 XM_001128051,XM_001720518,AF228730 XP_001128051,XP_001720570 Hs.631847 protein-coding 1605149 FAM90A21P family with sequence similarity 90, member A21 pseudogene 619418 NG_005998,AC134684 pseudo 1604861 FAM90A22 family with sequence similarity 90, member A22 645558 NG_006001,AC134684 FAM90A22P pseudo 1604860 FAM90A23 family with sequence similarity 90, member A23 645572 NG_006002,AC134684 FAM90A23P pseudo 1605164 FAM90A24 family with sequence similarity 90, member A24 441332 NG_006004,AC105233 A6NIJ5 FAM90A24P pseudo 1604441 FAM90A25P family with sequence similarity 90, member A25 pseudogene 389633 NG_006003,AC087203,AL832996 CAH56347,Q658T7 Hs.650464 pseudo 1606041 FAM90A2P family with sequence similarity 90, member A2 pseudogene 729689 NG_005959,AC130366,AC145124 pseudo 1602036 FAM90A3 family with sequence similarity 90, member A3 389611 XM_372013,AF228730 XP_372013 protein-coding 1605170 FAM90A4P family with sequence similarity 90, member A4 pseudogene 441313 NG_006005,AF228730 FAM90A4 pseudo 1602392 FAM90A5 family with sequence similarity 90, member A5 441315 XM_496947,AF228730 XP_496947 protein-coding 1604444 FAM90A6P family with sequence similarity 90, member A6 pseudogene 389618 NG_006009,AC134684 pseudo 1602391 FAM90A7 family with sequence similarity 90, member A7 441317 XM_496948,AC134684 XP_496948,A6NKC0 protein-coding 1602390 FAM90A8 family with sequence similarity 90, member A8 441324 XM_496953,AC084121 XP_496953,A6NJQ4 protein-coding 1602389 FAM90A9 family with sequence similarity 90, member A9 441327 XM_496956,AC084121 XP_496956,A6NNJ1 protein-coding 1605857 FAM91A1 family with sequence similarity 91, member A1 17081983,16421571,15302935,14702039,12477932 157769 NM_144963,AC011134,CH471060,AK074370,AL832830,AL832999,BC030520,DQ228141 NP_659400,EAW92049,EAW92050,EAW92051,EAW92052,BAB85063,CAH56231,CAH56297,AAH30520,ABB17070,Q658Y4,Q8N6F3 Hs.459174 DKFZp666B104|FLJ23790 protein-coding 1603385 FAM91A2 family with sequence similarity 91, member A2 14702039,12477932,9455484 57234 XM_934503,AL358813,AL451058,AB007962,AK090660,BC021732 XP_939596 Hs.645966,Hs.647735 KIAA0493 protein-coding 1642208 FAM91A3P family with sequence similarity 91, member A3 pseudogene 729182 NG_007181,AL356957 pseudo 1604747 FAM92A1 family with sequence similarity 92, member A1 17646714,14702039,12477932 137392 NM_145269,AC010834,AC120053,AK096298,BC014598,BC108707,CR621981,CR627475,DQ327715,DQ327716 NP_660312,BAC04753,AAH14598,AAI08708,CAH10675,ABC55436,ABC55437,A1XBS5 Hs.125038 FLJ38979 protein-coding 1626255 FAM92A2 family with sequence similarity 92, member A2 729073 XM_001129235,XM_001717575,XM_001714963,AC021753,AC022408 XP_001129235,XP_001717627,XP_001715015 Hs.512279 DKFZp564I0278 protein-coding 1602947 FAM92A3 family with sequence similarity 92, member A3 12477932 403315 NR_003612,AC019193,BC022019,BC047622,BC059396,BC094692 AAH22019,AAH47622,AAH59396,AAH94692,Q504Y5 Hs.652187 MGC102964|MGC71735 pseudo 1603858 FAM92B family with sequence similarity 92, member B 12477932 339145 NM_198491,AC026469,CH471114,AK126284,BC093665,BC111944 NP_940893,EAW95458,EAW95459,BAC86515,AAH93665,AAI11945,Q6ZTR7 Hs.125713 FLJ44299|MGC138149 protein-coding 2293293 FAM93B family with sequence similarity 93, member B 619342 BC030685 Hs.621220 protein-coding 1602086 FAM96A family with sequence similarity 96, member A 15146197,14702039,12477932,8889548,16189514,15489334 84191 NM_001014812,NM_032231,AC021541,CH471082,CS072305,BC008865,BM706342,CN421575,CR590906,CR593073 NP_001014812,NP_115607,EAW77660,EAW77661,EAW77662,CAI93443,AAH08865,Q9H5X1 Hs.439548 FLJ22875 protein-coding 1602116 FAM96B family with sequence similarity 96, member B 17353931,16189514,15489334,12477932,11042152,10810093 51647 NM_016062,AC009084,CH471092,AF151886,AF161467,BC001733,BC005023,CR620340 NP_057146,EAW83056,AAD34123,AAF29082,AAH01733,AAH05023,Q9Y3D0 Hs.9825 CGI-128 protein-coding 1603675 FAM98A family with sequence similarity 98, member A 14702039,12477932 25940 NM_015475,AC017050,CH471053,CQ783714,AK027432,AK074867,AK096187,AL049943,BC020907,BC038581,BC060860,BC136768,BC136770,CR625595,CR936766 NP_056290,EAX00431,CAF86825,BAB55106,BAC11255,CAB43217,AAH20907,AAH60860,AAI36769,AAI36771,Q05CT2,Q8NCA5,Q96T08,Q9Y3Y6 Hs.468140 DKFZP564F0522|DKFZp686O03192 protein-coding 1606116 FAM98B family with sequence similarity 98, member B 17353931,17567985,15489334,14702039,12477932 283742 NM_173611,NM_001042429,AC109631,AC116158,CH471125,AK095745,BC035600,BC093898,BP872410 NP_775882,NP_001035894,EAW92369,EAW92370,EAW92371,BAC04621,AAH93898,Q52LJ0 Hs.6799 FLJ38426 protein-coding 1604231 FAM98C family with sequence similarity 98, member C 15489334,12477932 147965 NM_174905,AC005789,CH471126,AK128745,BC034383,BC036482,BC080606,BC100033,BC117258,BI871449,BM561971,BX641942 NP_777565,EAW56790,EAW56791,EAW56792,EAW56793,BAC87595,AAH80606,AAI17259,Q17RN3,Q6ZQT8 Hs.355162 FLJ44669 protein-coding 1348978 FAM9A family with sequence similarity 9, member A 1580863 15489334,12477932,12213195 171482 NM_174951,AC003685,CH471074,AF494343,BC112022,BC113449 NP_777611,EAW98760,EAW98761,AAN07162,AAI12023,AAI13450,Q8IZU1 Hs.382062 GDB:11506008 MGC138227|MGC142009 protein-coding 1345676 FAM9B family with sequence similarity 9, member B 1580863 15489334,14702039,12477932,12213195 171483 NM_205849,AC074281,CH471074,AF494344,AK097501,AK128470,BC120955,BC120956,CR612898 NP_995321,EAW98763,EAW98764,EAW98765,EAW98766,AAN07163,BAC05078,AAI20956,AAI20957,Q8IZU0,Q8N7Z8 Hs.371894 GDB:11506010 FLJ40182 protein-coding 1345371 FAM9C family with sequence similarity 9, member C 1580863 16344560,15489334,12477932,12213195 171484 NM_174901,AC002366,AC004467,AC139705,CH471074,AF494345,BC127957,BX647580,BX648111,BX648919,DB333543 NP_777561,EAW98815,EAW98816,EAW98817,AAN07164,AAI27958,CAI46094,CAI46034,CAI46007,Q5HY97,Q8IZT9 Hs.667546 GDB:11506012 protein-coding 1322810 FANCA Fanconi anemia, complementation group A The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. 1580863 10468603,10210316,10094191,9929978,9789045,9742112,9721219,9711872,9399890,9382107,12571280,8896564,9398857,18270339,18056155,16946016,16116422,15917947,15860134,15790592,15591268,15502827,15489334,15256425,15138265,15059067,14749703,14630800,12724401,12637330,12477932,12444097,12384774,12354784,12239156,12210728,12031647,11855836,11726552,11344308,11157805,11091222,11063725,11050007,10936108,10936049,10807541,10521298,9371798,9169126,8896563,8755924,7581462,14499622,12973351,16189514,10600472,15082718,11401546,10551855,14697762,12649160,11918676,11739169,10961856,10652215,10627486,10567393,10468606,10373536,15262960,12093742,6186 2175 NM_001018112,AC005360,AC005565,AC005567,AC092385,AF054569,AJ131189,AJ131190,AJ225084,AJ225085,AY598423,CH471184,Z83067,BC008979,BC022498,NM_000135,BC064540,BC120978,BC120979,BC127633,BC141971,BC141972,BT007366,CR601931,CR612784,X99226 NP_000126,NP_001018122,AAC28751,AAC33304,AAC33401,AAC28331,CAB46099,CAB46100,CAA12393,CAA12394,AAS99350,EAW66685,EAW66686,CAB05445,AAH08979,AAH22498,AAH64540,AAI20979,AAI20980,AAI27634,AAI41972,AAI41973,AAP36030,CAA67610,O15360,Q0VAP3,Q0VAP4,Q49AU4,Q86U55,Q9Y4Z8,Q9Y4Z9,AAI56523 Hs.567267 GDB:701221 FA|FA-H|FA1|FAA|FACA|FAH|FANCH|MGC75158 protein-coding 1351449 FANCB Fanconi anemia, complementation group B The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group B. Alternative splicing results in two transcript variants encoding the same protein. 16679491,16116422,15611632,15502827,15489334,15342556,14702039,12477932,11601848,11307801,9480775,9382107,8609606,18302019,17903171 2187 NM_152633,NM_001018113,NG_007310,AC140846,CH471074,AK091383,BC043596,BC055411,BC136558,BC136560,BP236844 NP_689846,NP_001018123,EAW98861,EAW98862,EAW98863,BAC03650,AAH43596,AAH55411,AAI36559,AAI36561,Q8NB91 Hs.554740 GDB:9864269 FA2|FAAP90|FAAP95|FAB|FACB protein-coding 735813 FANCC Fanconi anemia, complementation group C The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. 1580863,1300359,1300317,1300316 9596688,1574115,9398857,18264947,17977515,17490643,16513431,16429406,16344560,16127171,16116422,15726604,15695377,15616572,15502827,15489334,15327776,15299030,15256425,15077170,14625294,12763929,12724401,12477932,12397061,12239156,11986317,11876000,11751423,11520787,11500375,11427142,11157805,11063725,10848598,10627486,10572087,10551855,10431244,10373536,9742112,9454773,9373149,9242535,8844212,8829660,8639804,8613549,8499901,8490620,8348157,8128956,8125298,8103176,8081385,8058745,7518843,7517562,7492758,1641028,1303234,17353931,14499622,11401546,16189514,11433346,15262960,12649160,12093742,15082718,12973351,10961856 1300359,1300317,1300316 2176 NM_000136,AL157384,AL354893,AY220878,CH471174,L02664,AK222871,AU132608,BC006303,BC015748,BC041030,CB052780,X66893,X66894 NP_000127,CAH70885,CAH70886,CAI41328,CAI41329,CAI41330,AAO26042,EAW92626,EAW92627,EAW92628,EAW92629,AAA53104,AAH15748,CAA47347,CAA47348,Q00597,Q5W030,Q5W031,ABM86348,ABW03784 Hs.494529,Hs.656658 GDB:132672 FA3|FAC|FACC|FLJ14675 protein-coding 1343234 FANCD2 Fanconi anemia, complementation group D2 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. 1580863,1601137 12874027,18475298,18270339,18029388,17898070,17643815,17460694,17436244,16943440,16679306,16474167,16127171,16116422,15886296,15849361,15694335,15671039,15661754,15650050,15502827,15489334,15454491,15377654,15314022,15302935,15257300,15199141,15115758,14988723,14743216,14702039,14667412,14517836,12973351,12649160,12607005,12607003,12477932,12447395,12389351,12239151,12093742,12086603,12042798,11751423,11733219,11239454,11239453,10762542,7581463,12887909,14499622 1601137 2177 AL832427,BC013582,BC038666,BU617044,BX956311,NM_001018115,NM_033084,NG_007311,AC034193,AF273251,CH471055,DQ341263,AF230336,AF340183,AK022613,AK074406 CAH10647,AAH13582,Q9BXW9,AAI56800,NP_001018125,NP_149075,AAK18772,AAK18773,EAW64055,EAW64056,EAW64057,EAW64058,ABC67466,AAL05980,AAK15369,BAB14132 Hs.208388 GDB:698345 DKFZp762A223|FA-D2|FA4|FACD|FAD|FAD2|FANCD|FLJ23826 protein-coding 1354425 FANCE Fanconi anemia, complementation group E The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. 1580863,1598924 12093742,11001585,17308347,17296736,16513431,16127171,16116422,15502827,15489334,14574404,12724401,12649160,12477932,12239156,11157805,10205272,9382107,9147877,7662964,15262960,15115758,12973351,15199141 1598924 2178 NM_021922,AL022721,CH471081,DQ020173,AF265210,AK292522,BC046359,CR605350 NP_068741,CAD92504,EAX03830,AAY26395,AAG16743,BAF85211,AAH46359,Q9HB96 Hs.302003 GDB:1220236 FACE|FAE protein-coding 1345063 FANCF Fanconi anemia, complementation group F The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group F. 1580863,1598925,2290045,2290044 11063725,17082180,16418574,16116422,15502827,15489334,15262960,15126331,15124103,14702039,14647419,12724401,12477932,12239156,12093742,11157805,10615118,9382107,8125298,12973351,12649160,9373149 1598925,2290045,2290044 2188 BC101807,BI522448,BX640996,CB157038,CR603993,NM_022725,NG_007425,AC103801,AY928335,CH471064,AF181994,AF181995,AK001716,AK023153,AK223277,BC047028,BC063038,BC093867 AAI01808,CAE45999,Q53FK7,Q6MZN0,Q9BSF3,Q9NPI8,NP_073562,AAX09677,EAW68319,AAF26297,AAF26298,BAB14433,BAD96997,AAH47028,AAH63038,AAH93867 Hs.708042 GDB:9864270 FAF|MGC126856 protein-coding 1350702 FANCG Fanconi anemia, complementation group G The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. 1580863,1599879 9806548,9256465,17010390,16621732,16609022,16195237,16189514,16116422,15657175,15502827,15489334,15319283,15256425,15164053,15138265,15059067,12915460,12861027,12724401,12649160,12552564,12477932,12432219,12239156,12093742,11918676,11756225,11157805,11093276,11063725,11050007,10807541,10627486,10468603,10373536,9382107,11401546,14499622,10652215,15262960,15082718,14697762,12973351,11739169,10961856,10567393,10468606,15367677 1599879 2189 NM_004629,NG_007312,NG_007887,AC004472,AL353795,AY795970,CH471071,AJ007669,BC000032,BC011623,BT009813,CR592637,U70310 NP_004620,AAC07981,AAV40841,EAW58401,EAW58402,CAA07602,AAH00032,AAH11623,AAP88815,AAB80802,O15287,Q53XM5,ABM83092,ABM86286 Hs.591084 GDB:6873947 FAG|XRCC9 protein-coding 1605380 FANCI Fanconi anemia, complementation group I The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. 17353931,17460694,17452773,17412408,16964243,15489334,15146197,14702039,14630800,12477932,11347906,14743216 55215 NM_018193,NM_001113378,AC124068,CH471101,AB058697,AK001581,AK027564,AK055176,BC004277,BC021859,BC140769,BC146804,BM461935,BQ050477,BU187299,CN365698,CR602910,EF469766,EF567077 NP_060663,NP_001106849,EAX02039,EAX02040,EAX02041,EAX02042,EAX02043,EAX02044,BAB47423,BAA91770,BAB55200,AAH04277,AAI40770,ABP88002,ABQ63084,Q9NVI1,AAI66621 Hs.513126 FLJ10719|KIAA1794 protein-coding 1322885 FANCL Fanconi anemia, complementation group L The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 18270339,17106252,16474167,16344560,16116422,15815621,15502827,15489334,14702039,12973351,12724401,12606378,12477932,12417526,9373149,8125298,12574169 55120 NM_018062,NG_007418,NM_001114636,AC007250,CH471053,AK001197,AK225147,AL036481,BC009042,BC037570,BC041627,BC054517,BQ574618,CR594145,CR597729,DB032206 NP_001108108,NP_060532,AAY15020,EAX00056,EAX00057,EAX00058,EAX00059,EAX00060,EAX00061,BAA91548,AAH09042,AAH54517,Q9NW38 Hs.708194 FAAP43|FLJ10335|PHF9|POG protein-coding 1317358 FANCM Fanconi anemia, complementation group M The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. 18206976,16116434,16116422,15489334,14702039,12477932,10997877 57697 NG_007417,NM_020937,AL121809,CH471078,AB046816,AK001672,AK093422,AL833656,BC036056,BX500546,DQ140356 NP_065988,EAW65781,EAW65782,EAW65783,EAW65784,BAB13422,BAC04159,AAH36056,AAZ53290,Q8IYD8,AAI56491 Hs.509229 FAAP250|KIAA1596 protein-coding 1312384 FANK1 fibronectin type III and ankyrin repeat domains 1 737633 17604233,15489334,14702039,12975309,12477932 737633 92565 NM_145235,AC063963,AL360176,CH471066,AK021437,AY251163,AY358154,BC024189,BQ225468,CR627249 NP_660278,EAW49211,EAW49212,EAW49213,EAW49214,AAP20060,AAQ88521,AAH24189,Q8TC84 Hs.352591 HSD13 fibronectin type 3 and ankyrin repeat domains 1 protein-coding 732069 FAP fibroblast activation protein, alpha The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. 1580863 7911242,9065413,9247085,18095711,18071670,16700525,16507127,16480718,16410248,16335952,16223769,16196122,16175601,16061874,15809306,15767544,15489334,14707457,14702039,14524536,12963128,12926053,12675244,12477932,12376466,12028401,12023964,10644713,7774951,7519584 2191 NM_004460,AC007750,CH471058,AF007822,AK055327,AL832166,BC026250,CR604386,CR606795,U09278,U76833 NP_004451,AAY24205,EAX11353,EAX11354,AAF21600,AAH26250,AAB49652,AAC51668,Q12884,Q53TP5,ABM82349,ABM85523 Hs.654370 GDB:374184 DKFZp686G13158|DPPIV|FAPA fibroblast activation protein protein-coding 1313320 FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) This gene was originally isolated through subtractive hybridization due to its increased expression in differentiated chondrocytes versus dedifferentiated chondrocytes. The resulting protein contains a predicted ezrin-like domain, a Dbl homology domain, and a pleckstrin homology domain. It is believed to be a member of the band 4.1 superfamily whose members link the cytoskeleton to the cell membrane. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 9425278,16381901,15489336,15489334,15057823,14702039,12477932,11076863 10160 NM_005766,NM_001001715,AL136300,AL137249,AL161896,AL445223,BX647479,CH471085,AB008430,AI273567,AI274149,AK095747,AK123565,BC041595,BC053593,BC065020,BC071592,BE463494 NP_005757,NP_001001715,CAI10952,CAI10953,CAI39451,CAI39454,CAI39458,EAX08982,BAA24267,BAC85647,AAH41595,AAH71592,Q0JTV4,Q5JV91,Q5JV94,Q5T216,Q6ZW58,Q9Y4F1,CAL38058,CAL38095,CAL38331 Hs.403917 GDB:11501728 CDEP|MGC87400|PLEKHC2 protein-coding 1317522 FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1580863 12477932,9872452,9847074,14531806,12351724,15815621,15489334,15324660,12771149 9855 NM_014808,AC005104,AC110299,CH471063,AB018336,AK127510,AL122052,BC021301,BC036887 NP_055623,AAY14682,EAW71262,EAW71263,BAA34513,CAB59185,AAH21301,O94887 Hs.657318,Hs.679161 FIR|FRG|KIAA0793|PLEKHC3 protein-coding 1342814 FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. 10329163,17768348,15489334,15146197,14574404,12477932,11329013,9373149,8125298 10667 CH471087,AF097441,AF161438,AI338405,AK223423,BC020239,BC021112,BE792999,BG212473,BI761156,CN292346,CR542279,CR591198,CR594172,CR599212,CR607114,CR608064,CR623404,CR626764,NM_006567,AL021328,AL022097,AL121978,AL133473,AL392184,AL590868 CAI39442,EAW55179,AAC83802,AAF28998,BAD97143,AAH20239,AAH21112,CAG47075,O95363,Q5JRF7,NP_006558,CAI19950,CAI20375,CAI39441 Hs.484547 FARS1|HSPC320|PheRS|dJ520B18.2 phenylalanine-trna synthetase 2 (mitochondrial) protein-coding 1321146 FARSA phenylalanyl-tRNA synthetase, alpha subunit Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression 1580863 9177188,15489334,15057824,14702039,12665801,12477932,11858721,10049785,11829477 2193 NM_004461,AC092069,AD000092,CH471106,AF042347,AK092093,AK130195,BC006495,BC035438,BC043565,BG284015,BT007198,CR456740,CR591094,CR596139,CR597607,CR598884,CR603999,CR604250,CR605875,CR609864,CR610335,CR613272,CR613342,CR613659,CR613870,CR616038,CR616900,CR617025,CR617032,CR617949,D84471,U07424 NP_004452,AAB51175,EAW84328,EAW84329,AAD02221,AAH06495,AAH43565,AAP35862,CAG33021,BAA95666,AAB61694,Q6IBR2,Q9Y285,ABM81671,ABM84841 Hs.23111 CML33|FARSL|FARSLA|FRSA|PheHA phenylalanine-trna synthetase-like, alpha subunit protein-coding 1348852 FARSB phenylalanyl-tRNA synthetase, beta subunit This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. 1580863 10049785,15635413,15489334,11858721,11042152,10375616,9177188,1741281,658405,15000680,14980694,14702039,12962494,12477932 10056 Q4ZFX1,Q57ZJ5,Q9BR63,Q9NSD9 BC008434,BC011261,BC017783,BC022273,CR596774,CR603404,CR605981,CR608008,CR614902,CR619824,D84430,AF161521,AK001025,AK055289,BC006502,NM_005687,AC097461,AC104772,CH471063,AF042346 AAH06502,AAH17783,BAA95608,Q4ZFX1,Q57ZJ5,Q9BR63,Q9NSD9,AAD02220,AAF29136,NP_005678,AAX88958,AAX81986,EAW70802,EAW70803,EAW70804 Hs.471452 FARSLB|FRSB|HSPC173|PheHB|PheRS|farslb phenylalanine-trna synthetase-like, beta subunit protein-coding 1346266 FAS Fas (TNF receptor superfamily, member 6) The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. At least eight alternatively spliced transcript variants encoding seven distinct isoforms have been described. The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. 1600310,1600348,1600350,1600351,1600352,1600312,1600333,1600334,1600355,1600356,1600357,1600354,1626509,2290049,2290063,2290132,2290176,2290131,2289639,2290050,2290077,2290283,2290284,2290058,2290177,2290084,2290099,2290048,2290133,2290054,2290130,2290046,2290047,2290053,2290175,2290075 17544837,17516614,17504511,17493146,17487740,17485109,17465232,17406980,17376892,17219051,17203787,17198275,17195092,17194564,17183065,17174268,17161551,17159908,17159907,17135269,17130290,17062728,17056024,17053166,17014925,17014078,17009393,17006606,17000697,16987075,16972019,16937440,16936193,16921240,16917513,16914910,16899302,16895904,16822901,16820946,16808908,16788566,16765090,16741989,16723718,16691186,16643620,16538172,16538171,16515587,16507928,16474169,16473667,16472594,7536190,14644197,7510905,11048727,10875918,7533181,9360929,7530336,8521815,8681376,9721089,18483392,18445624,18383830,16469115,16441482,16438619,16436054,16403915,16393952,16368755,16364925,16358967,16343245,16313826,16306044,16304056,16273638,16255757,16215685,16215672,16169070,16163374,16158329,16157125,16148554,16143308,16129703,16091761,16087126,16081586,16018969,16000573,15996722,15975999,15968727,15967797,15963548,15962371,15937082,15929764,15917238,15911745,15894356,15860671,15855233,15838728,15833141,15816832,15808689,15806311,15803113,15795317,15786554,15748958,15726829,15723707,15704653,15695771,15688389,15680394,15672026,15670977,15645122,15641141,15637757,15632129,15592292,15563545,15557123,15556941,15556626,15542843,18328427,18361934,18337305,18324486,18302883,18234961,18227168,18217400,18174230,18162459,18090928,18078929,18078642,18068525,18057579,18056484,18045865,18003704,18000680,17997887,17993614,17982483,17978477,17970696,17962369,17962219,17941899,17938571,17932249,17912957,17912028,17909299,17891455,17878356,17853317,17762757,17724145,17708363,17704785,17704746,17692455,17684774,17667965,17657164,17622942,17603079,17598974,17597021,17589525,17564320,17561354,17559541,17545588,12557947,12516573,12515623,12515395,12513829,12507389,12497631,12485855,12482505,12482410,12477932,12466128,12455036,12452031,12419941,12415011,12414525,12397013,12393889,12393649,12393468,12388693,12324452,12270344,12244143,12234263,12221075,12220552,12207908,12207331,12198154,12196516,12185583,12177303,12169207,12163388,12150947,12140383,12139945,12137598,12131184,12107169,12098516,12096925,12096347,12067476,12064832,12060768,12060388,12049185,12040174,12037669,12034188,12032668,12021072,11994542,11986289,11975981,11965496,11961305,11949822,11941452,11920253,11909874,11895550,11891278,11867183,11864613,11861273,14759258,14745445,14739535,14739003,14736971,14724564,14719118,14719092,14714559,14698859,14676203,14672901,14668794,14647422,14644318,14644092,14638442,14637155,14625471,14625298,14625033,14594800,14585083,14573612,14557654,14534720,14533029,14530312,14514471,14512182,14506242,12963547,12952224,12923319,12907599,12883671,12880639,12874203,12867600,12855687,12855571,12824926,12803240,12794152,12788915,12783210,12770553,12757469,12742739,12742662,12724420,12717632,12710855,12706861,12699879,12698366,12679613,12646947,12629150,12623840,12604424,12587820,12586732,12583439,12581154,15514680,15502938,15500551,15497017,15492869,15489334,15480430,15467462,15465831,15459302,15390286,15365741,15345718,15301860,15297424,15289903,15287856,15280387,15277733,15251990,15240787,15238425,15220220,15218339,15215233,15214041,15207703,15203866,15183989,15161716,15160902,15159409,15159312,15138553,15078899,15055260,15054468,15042330,15039424,15019807,15016553,14991945,14981943,14977837,14967838,12188927,11857317,11836578,11830507,11824955,11809905,11790791,11788891,11786908,11786482,11782802,11779855,11771526,11733515,11692157,11606059,11550967,11483955,11436125,11418480,11193028,11129341,11101867,11048730,11036836,11034606,10978533,10871852,10709732,10706119,10671224,10630977,10620127,10542291,10535980,10506221,10340403,10235259,10200300,10090885,9971775,9927496,9847311,9835052,9821419,9787134,9751072,9740801,9727492,9427646,9325248,9322534,9268734,9267021,9257699,9228058,9223324,9215629,9159204,9126929,9079683,9045686,9039262,9028957,9028321,8967952,8940097,8929361,8906799,8864141,8648105,8626376,8598453,8524870,7575433,7543095,7540117,7539892,7538908,7538907,7536343,7529798,7514572,2787530,2469768,1713127,1385309,1385299,1375228,16524887,10072505,9226175,15936090,10799864,9247148,9002959,15972662,14739941,11208609,10625668,8780394,9475352,8976184,15818415,10505674,9263011,15843521,15858021,9920849,11298454,11323689,11177389,15659383,12887920,16189514,15944736,15665818,15383280,11112409,15829968 1600310,1600348,1600350,1600351,1600352,1600312,1600333,1600334,1600355,1600356,1600357,1600354,1626509,2290049,2290063,2290132,2290176,2290131,2289639,2290050,2290077,2290283,2290284,2290058,2290177,2290084,2290099,2290048,2290133,2290130,2290046,2290047,2290053,2290175,2290075 355 X89101,Z47993,Z47994,Z47995,Z66556,Z70519,Z70520,NM_152872,NM_152871,NM_152873,NM_152874,NM_152875,NM_152877,NM_152876,AF061978,NM_000043,AJ279011,AJ279012,AJ279013,AJ509179,AJ509180,AJ509181,AJ509182,AL157394,AY450925,CH471066,D31968,AB209361,AK290978,BC012479,CR450307,CR625848,M67454,X63717,X83490,X83491,X83492,X83493 CAA61473,CAA88031,CAA88032,CAA88033,CAA94430,CAA94431,P25445,Q59FU8,Q5T9N5,Q5T9N6,Q5T9P0,Q5T9P1,Q5T9P2,Q5T9P3,Q5T9P4,Q6ICT6,Q8IUB6,Q8IUB7,Q9UEL0,Q9UET8,ABM85601,NP_000034,NP_690611,NP_690610,NP_690612,NP_690613,NP_690614,NP_690616,NP_690615,AAC16237,CAC35539,CAC35540,CAC35541,CAD48929,CAD48930,CAD48931,CAD48932,CAI13870,CAI13871,CAI13872,AAR08906,EAW50147,EAW50148,EAW50149,EAW50150,EAW50151,EAW50152,BAA20850,BAD92598,BAF83667,AAH12479,CAG29303,AAA63174,CAA45250 Hs.244139 GDB:132671 ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6 protein-coding 1606342 FASLG Fas ligand (TNF superfamily, member 6) The protein encoded by this gene is the ligand for FAS. Both are transmembrane proteins. Interaction of FAS with this ligand is critical in triggering apoptosis of some types of cells such as lymphocytes. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). 2290134,2290054,2290076,2290172,2290175,2290051,2290052,2290063,2290077,2290049,2290053,2290132,2292498 18162459,18078642,18076022,18069935,18068525,18057579,18050226,18045865,18000680,17997887,17966039,17962219,17961631,17943461,17941899,17938571,17912957,17853317,17823283,17762757,17727731,17704746,17704118,18174230,17703232,17688234,17667919,17605793,17598974,17564320,17559541,17557115,17545588,17491259,17465232,17381722,17290285,17198275,17183065,17173971,17164290,17136494,17123604,17123522,17118988,17101499,17071607,17056762,17053166,17014925,17008914,17000697,16990614,16987075,16972019,16902496,16868256,16858424,16808908,16770006,16767155,16710414,16691186,12761501,14644197,7826947,11048727,7530336,7536190,8521815,8681376,9721089,18483392,18383830,18361934,18324486,18302883,18217400,16627752,16601838,16595663,16595635,16538172,16538171,16514159,16512757,16487513,16474169,16441482,16364925,16332972,16332967,16318909,16313826,16306044,16298578,16282344,16273638,16212902,16204241,16186185,16181301,16163374,16158329,16157266,16157125,16155003,16133992,16087126,16081306,16000573,15996722,15991293,15979995,15975999,15968727,15962391,15937082,15928037,15870181,15870081,15849828,15833141,15816832,15814666,15806311,15803113,15795317,15791651,15694838,15686714,15674374,15653751,15579659,15557763,15542843,15492869,15489334,15480896,15457562,15358139,15339846,15337758,15314293,15302589,15287856,15277733,15272306,15240787,15218339,15195700,15183989,15178561,15173177,15138553,15093732,15073283,15042330,15019279,14996347,14988839,14977837,14967838,14962292,14739535,14739407,14739003,14705811,14698859,14669310,14668794,14642527,14634098,14625471,14602201,14560009,14534535,14514471,12930319,12928375,12923319,12918731,12887920,12867600,12854132,12849704,12807917,12803240,12794109,12787425,12783210,12742739,12742662,12717632,12710855,12707034,12700199,12698366,12651606,12637505,12629150,12618758,12594300,12583439,12559631,12557947,12515623,12513781,12507389,12490654,12482505,12482410,12477932,12464266,12454289,12421989,12414956,12414525,12393889,12372468,12220636,12208869,12161534,12137598,12113885,12100038,12023017,12021310,12021072,12009596,11994542,11994433,11970950,11965496,11961305,11925103,11909874,11908702,11895550,11882326,11856352,11845233,11830480,11809905,11801650,11788891,11786482,11751256,11741599,11739488,11716959,11606059,11559749,11500835,11438180,11276204,11036836,11013215,10671224,10630977,10318773,9971775,9872321,9427603,9405425,9261095,9228058,9215629,9126929,9022072,8910274,8906799,8787672,7980502,7589480,7566174,7539892,7528780,7505205,10072505,9226175,11208609,10799864,9475352,15936090,9801169,9672636,9247148,9002959,15843521,12884192,10224289,15858021,15078178,9920849,15659383 2290134,2290076,2290172,2290175,2290051,2290052,2290063,2290077,2290049,2290053,2290132,2292498 356 NG_007269,AB013303,CH471067,EF064739,Z96050,AF288573,AY225406,AY858799,BC017502,D38122,U08137,U11821,X89102,NM_000639 NP_000630,BAA32542,EAW90935,EAW90936,ABK41922,CAB09424,AAG60017,AAO43991,AAX49569,AAH17502,BAA07320,AAC50071,AAC50124,CAA61474,P48023,Q0VHD7,Q53ZZ1,ABM84392,ABM87146 Hs.2007 GDB:422178 APT1LG1|CD178|CD95L|FASL|TNFSF6 protein-coding 1347691 FASN fatty acid synthase The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. 1580863 7567999,17220478,12815048,18281512,18281474,18239060,18211286,17847090,17687193,17662476,17631500,17618296,17618104,17492427,17188392,17081983,17081065,16964243,16894240,16806233,16644689,16582625,16215233,16175090,15897909,15669079,15523670,15507492,15489334,15302935,15254710,15235125,15220220,15113941,15047835,14689581,12939396,12882974,12839976,12646257,12531699,12515624,12477932,12213084,12060737,11790787,11756679,11248039,11034606,11018265,10769045,9356448,8986532,8662758,8022791,7835891,7595075,2669958,1044453,600212,16189514 2194 NM_004104,AC135056,CH471099,U52428,AB209988,AY451392,BC007267,BC007305,BC007909,BC014631,BC014634,BC021544,BC063242,CR599966,S80437,U26644,U29344 NP_004095,EAW89745,AAC50536,BAE06070,AAS09886,AAH07267,AAH07909,AAH14631,AAH14634,AAH63242,AAB35516,AAC50259,AAA73576,P49327,Q13587,Q4LE83,Q6PJJ3 Hs.83190 GDB:342064 FAS|MGC14367|MGC15706|OA-519 protein-coding 1605699 FASTK Fas-activated serine/threonine kinase The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. 7544399,17592127,17135269,16341674,16189514,15572676,15489334,15110758,14702039,12690205,12477932,9373149,8889548,8125298,7757816 10922 NM_033015,NM_006712,AACC02000108,AC010973,CH471173,AB209783,AK023141,AK223132,AK292232,AL713798,BC000377,BC006386,BC011770,BC039026,BM799420,BU682096,CR590845,CR595036,CR596093,CR596954,CR597531,CR611266,CR617191,CR620199,CR623465,CR623848,F02420,X86779 NP_148936,NP_006703,EAL24499,EAL24500,EAW54033,EAW54034,EAW54035,EAW54036,EAW54037,EAW54038,EAW54039,EAW54040,EAW54041,EAW54042,EAW54043,BAD93020,BAB14425,BAD96852,BAF84921,CAH10616,AAH00377,AAH11770,AAH39026,CAA60448,Q14296,Q53FZ9,Q59EM8,Q69YS8,Q8IVA0,Q9BWD7,Q9H918,ABM83848,ABM87170,ABW03532 Hs.647094 FAST protein-coding 1606223 FASTKD1 FAST kinase domains 1 16344560,14702039,12477932,11347906,9373149,8889548 79675 NM_024622,AC093899,CH471058,AB058703,AK025554,AK055892,AK074302,AK130797,AK225293,AL832058,BC017950,BC032687,BC035241,BM675885,CR595728,DA920754 NP_078898,AAY24118,EAX11271,EAX11272,EAX11273,EAX11274,BAB47429,BAB15168,BAB71037,BAB85043,AAH17950,AAH32687,Q05D57,Q53R41 Hs.529276 FLJ21901|KIAA1800 protein-coding 1317335 FASTKD2 FAST kinase domains 2 1580863 15815621,15489334,14702039,12477932,10931946,10231032 22868 AC008269,CH471063,AB023188,AF223470,AK001315,AK001516,AK021557,AL833877,BC001544,CR608462,NM_014929 NP_055744,AAX93275,EAW70394,EAW70395,EAW70396,EAW70397,EAW70398,BAA76815,AAF64145,BAA91617,CAD38734,AAH01544,Q9NYY8 Hs.84429 GDB:9957217 KIAA0971 protein-coding 1604298 FASTKD3 FAST kinase domains 3 12477932 79072 NM_024091,AC010346,CH471102,AF161354,AK026927,BC001295,BC113563,BQ921348 NP_076996,EAX08094,EAX08095,AAF28914,AAH01295,AAI13564,Q14CZ7,Q9P0E5 Hs.653162 FLJ23274|MGC142123|MGC5297 protein-coding 1602469 FASTKD5 FAST kinase domains 5 16189514,14702039,12477932,11347906 60493 NM_021826,AL121891,CH471133,AB058695,AK023211,AK027215,AW182833,BC007413,BC011856,CR593540 NP_068598,CAC32460,EAX10548,BAB47421,BAB14464,BAB15696,AAH07413,AAH11856,Q7L8L6 Hs.654646 FLJ13149|dJ1187M17.5 protein-coding 732531 FAT FAT tumor suppressor homolog 1 (Drosophila) This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. 1580863 8586420,17938632,17895925,17500054,17325662,17081983,16979624,16402135,15922730,15744052,15342556,15146197,12477932,10737800,9199196,9182820,8889548,15148305 2195 NM_005245,AC107050,AC110761,CH471056,BC012432,BF327563,BP363658,BU729008,CD642620,CN289962,CR598584,D88798,X87241 NP_005236,EAX04614,EAX04615,EAX04616,BAA21568,CAA60685,Q14517,Q53AW8,Q53AW9,Q53AX0,Q9UEJ6 Hs.481371 GDB:624592 CDHF7|FAT1|ME5|hFat1 protein-coding 1345655 FAT1P1 FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1 170513 NG_001036,AL050403 GDB:11506014 dJ697P8.1 pseudo 732170 FAT2 FAT tumor suppressor homolog 2 (Drosophila) This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. 68762,1580863 17900869,16335952,15491607,12477932,10835267,10716726,10380929,9693030 68762 2196 NM_001447,AC011337,AC011374,AC034205,CH471062,AB011535,AB160984,AB177851,AF231022,AL157443,BC039143 NP_001438,EAW61673,BAA32463,BAD08246,BAD66829,AAF61928,CAB75663,AAH39143,Q5W9G8,Q6PIA2,Q75QY0,Q9NYQ8 Hs.591255 GDB:9836960 CDHF8|HFAT2|MEGF1 protein-coding 1351260 FAT3 FAT tumor suppressor homolog 3 (Drosophila) 625453,1580863 12477932,11811999,15744052,15146197,14702039 625453 120114 NM_001008781,AP000722,AP000805,AP002514,AP003171,AP003718,AB076400,AK091570,AK126620,AK127104,BC016722,CN295176 NP_001008781,BAB86868,AAH16722,Q53AW6,Q53AW7,Q8TDW7 Hs.98523 CDHF15|KIAA1989 protein-coding 1342504 FAT4 FAT tumor suppressor homolog 4 (Drosophila) 16865240,16713569,15345747,15003449,14702039 79633 NM_024582,AC079835,AC092629,AC098865,CH471056,AB075518,AK026709,AK091292,AK096646,AK291461,AL713715,AY356402,CR610468,DT932755,DT932756 NP_078858,EAX05203,BAE45762,BAB15534,BAF84150,CAD28510,AAR13653,Q6V0I7 Hs.702217 CDHF14|FAT-J|FATJ|FLJ23056|FLJ77878|NBLA00548 protein-coding 1353364 FATE1 fetal and adult testis expressed 1 737633,1580863 11256614,16713569,16381901,16189514,15489336,15489334,14702039,12811541,12477932,11694338,11134355,11076863 737633 89885 NM_033085,AF002992,CH471169,AF249872,AY101182,BC022064,CR624422 NP_149076,EAW99408,AAK69024,AAM48744,AAH22064,Q0JSY9,Q969F0,CAL38375,ABM83344,ABM86558 Hs.301960 FATE protein-coding 1351680 FAU Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. 8395683,15883184,15189156,12588972,15635413,15543234,15489334,15342556,14702039,12660817,12477932,9582194,8722009,8706699,8406491,7821789,1326960 2197 AP003068,AY398663,CH471076,X65921,AK026639,BC033877,BP296770,CR541974,CR619116,D28403,X65923,NM_001997 NP_001988,AAQ87877,EAW74353,CAA46714,BAB15515,AAH33877,CAG46772,BAA05769,CAA46716,P35544,P62861,Q9P1M0,ABM83335,ABM86548 Hs.387208 GDB:135476 FAU1|FLJ22986|Fub1|Fubi|MNSFbeta|RPS30 protein-coding 1346617 FAUNA@ FAU neighboring area cluster 9286704 2198 GDB:9539631 1342760 FAUP1 FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 1 7642109 140623 NG_001306,AC008021,U02523 GDB:11506016 FAU1P pseudo 1321696 FBF1 Fas (TNFRSF6) binding factor 1 737633 14702039,12477932,11347906,10978533,16189514 737633 85302 NM_001080542,AC087289,CH471099,AK057261,AK074045,BC007570,BC012332,BC023549 NP_001074011,EAW89342,BAB71400,BAB84871,AAH07570,AAH23549,Q8IZ48,Q8TES7 Hs.514494 FBF-1|FLJ00103 protein-coding 1313628 FBL fibrillarin This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. 1580863 15489334,15057824,15009096,14743216,14583623,12490167,12477932,12388758,12373336,12244096,11960984,11835310,11790298,11739535,11509230,10837141,10648622,10518318,9548374,8670859,7626687,2414294,2026646,1731817,1714385,17461797,15635413,9654073,12417735,15574333,1846968,17353931,17603021 2091 NM_001436,AC005393,AC006950,CH471126,BC015218,BC019260,BC019609,BT006830,BT020144,CR457069,CR592096,CR593763,CR608183,CR611406,CR619306,CR619571,CR621210,CR622112,CR624544,CR626204,M59849,X56597 NP_001427,AAC28913,AAD15623,EAW56925,AAH15218,AAH19260,AAH19609,AAP35476,AAV38946,CAG33350,AAA52453,CAA39935,P22087,Q96BS4,ABM83240,ABM86443 Hs.299002 GDB:127522 FIB|FLRN|RNU3IP1 protein-coding 1606792 FBLIM1 filamin binding LIM protein 1 This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. 17711449,16341674,15701922,15671069,15489334,15146197,14757752,14702039,12679033,12496242,12477932,16189514,16710414,16531412 54751 NM_017556,NM_001024215,NM_001024216,AL450998,CH471167,AF459643,AK027444,AK055259,AL133035,AY180161,BC019895,BM855570,CN278745,CR604326 NP_060026,NP_001019386,NP_001019387,CAH70851,CAH70852,CAH70853,CAH70854,EAW51750,EAW51751,EAW51752,AAO15549,BAB55115,CAB61365,AAO49012,AAH19895,Q5VVD3,Q5VVD6,Q8WUP2,ABM82656,ABM85833 Hs.530101 CAL|DKFZp434G171|FBLP-1|FBLP1|RP11-169K16.5 protein-coding 1318572 FBLN1 fibulin 1 Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. 1598727,1580863 2269669,14718574,18222970,17062666,16713569,16571622,16303743,16061471,15774544,15528301,15498874,15489334,15231748,14702039,14691454,14635206,12912698,12644824,12477932,12200142,12122015,11850827,11846885,11836357,11829738,11792823,11238726,10591208,10544250,10400671,10318851,10037144,9927660,9811350,9466671,9393974,9299350,9278415,9106159,8839849,8737292,8552629,8354280,8175920,7842734,7806231,7642629,7534784,7500359,2527614,1400330,17353931 1598727 2192 CS161048,CS208047,Z95331,Z98047,AF126110,AF217999,AI092723,AK075460,AK075566,AK095988,BC022497,CS161046,BX424750,BX443677,CR590049,CR594760,CR596373,CR597149,CR597928,CR598802,CR599469,CR599841,CR601275,CR601756,CR604366,CR604377,CR604648,CR607226,CR609301,CR609828,CR610678,CR610952,CR611352,CR611927,CR612690,CR613154,CR613698,BX403501,NM_006485,NM_001996,NM_006487,AL021391,AY040589,CH471138,CS161042,CS161044,NM_006486,CR615032,CR615176,CR615869,CR619363,CR620925,CR621956,CR622932,CR623286,CR623480,CR623559,CR624387,CR625210,CR625455,CR625554,CR625681,CR626208,U01244,X53741,X53742,X53743 CAJ30873,CAJ30874,CAJ44949,CAI41717,CAQ08434,CAQ08435,CAQ08436,CAI19628,CAQ10147,CAQ10148,CAQ10149,CAQ10150,CAQ10151,CAQ10152,CAQ10153,CAQ10154,CAQ10155,CAQ10156,AAK37822,AAG17241,BAC11705,AAH22497,NP_006477,NP_006476,NP_001987,NP_006478,CAI18930,CAQ09095,CAQ09096,CAQ09097,CAQ09098,CAQ09099,AAK82945,EAW73385,EAW73386,EAW73387,EAW73388,EAW73389,EAW73390,CAJ30871,CAJ30872,AAB17099,CAA37770,CAA37771,CAA37772,P23142,Q8NBH6,ABM84973 Hs.24601,Hs.593123 GDB:278285 FBLN protein-coding 1345931 FBLN2 fibulin 2 This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 7806230,16713569,14702039,12618961,12477932,11847210,11733994,11531782,11493006,11038354,10934193,10848816,9214621,9006922,8946175,8737292,8702639,8245130,7500359,10544250,9887386,9886271,9431988 2199 NM_001004019,NM_001998,AC090509,AY130458,CH471055,AK129883,AL050095,AL080171,AY130459,BC051690,CB959783,CR624008,X82494 NP_001004019,NP_001989,AAN05435,EAW64170,EAW64171,CAB43267,AAN05436,AAH51690,CAA57876,P98095,Q86V58,Q8IUI0,Q8IUI1,Q9Y3V7 Hs.198862 GDB:293037 protein-coding 736145 FBLN5 fibulin 5 The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). 1300360,69830,1580863,1300318 10428823,18222970,17581631,17472576,17371835,17255108,17035250,16904068,16837650,16713569,16691202,16374472,16344560,16303743,16153447,15528465,15489334,15342556,15269314,14745449,12975309,12618961,12477932,12189163,12111551,11805835,11805834,11549288,10640802 1300360,69830,1300318 10516 AL049872,AL590328,CH471061,CQ783216,CS161058,AA812956,AF093118,AF112152,AJ133490,AK074540,AK075147,AK307592,AL110148,AL546863,AY358898,BC022280,BP338841,BX248290,CR457140,CR597682,CR598006,CR604352,CR615971,NM_006329,DB263961 NP_006320,EAW81465,EAW81466,EAW81467,CAF86416,CAJ30879,AAC62107,AAD41768,CAB38568,AAQ89257,AAH22280,CAD62618,CAG33421,Q6IAL4,Q86TV4,Q9UBX5 Hs.332708 GDB:9957531 ARMD3|DANCE|EVEC|FIBL-5|FLJ90059|UP50 protein-coding 1601826 FBLN7 fibulin 7 17699513,14702039,12477932 129804 NM_153214,AC092645,CH471245,AK094759,AK124067,BC035784,BC038242,BC126986,BC126987,CR620397,CR933697 NP_694946,AAY14854,EAW52100,EAW52101,EAW52102,BAC04416,AAH35784,AAH38242,AAI26987,AAI26988,CAI46168,Q53RD9,Q8IY13 Hs.437696 DKFZp547D0610, FLJ37440|FLJ37440|TM14 protein-coding 731577 FBN1 fibrillin 1 This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. 1580378,1580379,1580380,1300362,1300363,1300361,1300319,1580863,1601144,1601145 7691719,8188302,3536967,10931876,15165854,15781745,1860873,18435798,18278837,18079676,18062611,18006876,17984934,17701892,17679947,17663468,17657824,17627385,17568394,17492313,17418587,17324963,17293099,17285469,17255108,17253931,17242066,17209430,17158881,17158461,17030689,17024364,16971892,16905551,16880403,16835936,16802364,16765689,16677079,16617303,16540720,16528372,16467653,16222657,16220557,16103519,16096271,16042404,15980072,15861007,15776436,15713466,15657057,15654955,15649891,15569675,15371449,15254584,15241795,15221638,15161917,15161620,15131124,15054843,14730633,14695540,14613297,14586646,12946356,12918850,12915484,12807887,12695261,12651868,12590922,12575662,12525539,12524050,12511552,12477932,12429739,12429738,12399449,12384286,12203992,12203987,12130535,12122015,11933199,11923248,11854120,11829507,11826022,11748851,11726670,11700157,11524736,11481325,11315929,11108952,10825173,10793130,10694921,10633129,10547375,10504303,10441597,10425041,10359653,10085138,10036187,9886271,9837823,9401003,9362480,9338588,9338581,9254848,9150726,9016526,8988160,8914744,8882780,8863159,8702639,8653794,8594563,8568869,8563763,8504310,8430317,8281141,8136837,8071963,8040326,8004112,7977366,7870075,7762551,7738200,8406497,8364578,7611299,1852208,1852207,1852206,1769651,1569206,1301946 1580378,1580379,1580380,1300362,1300363,1300361,1300319,1601144,1601145 2200 NM_000138,AB177801,AB177802,AB177803,AC022467,AC084757,AC084758,CH471082,S54426,AB208840,BC094721,BC146854,L13923,W81203,X62008,X63556 NP_000129,BAD16737,BAD16738,BAD16739,EAW77353,EAW77354,AAB25244,BAD92077,AAH94721,AAI46855,AAB02036,CAB56534,CAA45118,P35555,Q504W9,Q59HB9,Q75N88,Q75N89,Q9NP01 Hs.591133 GDB:127115 FBN|MASS|MFS1|OCTD|SGS|WMS fibrillin-1 2289561 BW440_H protein-coding 733428 FBN2 fibrillin 2 (congenital contractural arachnodactyly) The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. 1300320,1300364,1580863 8900230,7744963,1852206,8120105,7493032,18006876,17255108,16835936,15146197,15131124,12750963,12590922,12524050,12477932,12429739,12399449,12180907,12122015,11754102,10870517,10825173,10797416,10737800,10504303,10359653,9737771 1300320,1300364 2201 AC025169,AC034235,AC113387,CH471062,AB209735,AF193046,BC040623,BF368029,BG009811,BX343658,CD243435,CN300888,CN300893,CN300894,CN300904,CN481490,NM_001999,CR611529,CR612828,U03272,X62009 NP_001990,EAW62388,EAW62389,EAW62390,EAW62391,BAD92972,AAG22474,AAA18950,CAB56757,P35556,Q59ES6,Q8WYH1 Hs.519294 GDB:128122 CCA|DA9 fibrillin-2 protein-coding 1350241 FBN3 fibrillin 3 This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. 1580863 17785364,15221638,15203218,15146197,14962672,14702039,11941487,11347906 84467 AB177798,AB177799,AB177800,AC008946,AC022146,CH471139,AB053450,AI341180,AK000036,AK074501,AK095563,AK096539,AK131282,AY165863,AY165864,AY165865,BC153882,CD634017,CN369190,NM_032447,AB177797 BAD16733,BAD16734,BAD16735,BAD16736,EAW68946,EAW68947,EAW68948,BAB47408,BAC11026,BAD18457,AAO18145,AAO18146,AAO18147,AAI53883,Q6ZNB8,Q75N90,Q8N2R9,NP_115823 Hs.370362 GDB:11510043 KIAA1776 protein-coding 735552 FBP1 fructose-1,6-bisphosphatase 1 Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. 1601165,1580863,1300048 8387495,9382095,16169070,7558035,18460190,16344560,16189514,15965961,15489334,15164053,12507293,12477932,10222032,9380240,9373149,9282826,8530070,8382525,8135811,8125298,7809062,7763253,7589895,2842796,2164670,1846613 1601165 2203 NM_001127628,AL161728,AY866483,CH471174,U21925,U21931,AF073475,AK223395,AK292199,AY544122,NM_000507,BC012927,D26054,D26055,D26056,DA962803,L10320,M19922,U47918,U47919 NP_000498,NP_001121100,CAH72692,CAH72693,AAW34363,EAW92617,AAC50207,AAC25774,BAD97115,BAF84888,AAT11153,AAH12927,BAA05051,BAA05052,BAA05053,AAA35817,AAA35517,AAA89097,AAA89098,P09467,Q2TU34,Q5VZC3 Hs.494496 GDB:141539 FBP fructose-1,6- biphosphatase 1 protein-coding 732425 FBP2 fructose-1,6-bisphosphatase 2 This gene encodes a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. 1580863 9678974,16213487,15489334,15164053,12477932,10773464,9282826 8789 NM_003837,AJ238481,AJ238482,AJ238483,AJ238490,AL161728,CH471174,BC113632,BC117477,CR536483,Y10812 NP_003828,CAB58560,CAB58561,CAB53359,CAB53366,CAH72694,EAW92616,AAI13633,AAI17478,CAG38722,CAA71772,O00757,Q9UJ73,Q9UMQ9,Q9UMR0 Hs.61255 GDB:9956953 MGC142192 fructose bisphosphatase 2 protein-coding 1342852 FBRS fibrosin Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM] 17083929,16344560,15489334,14702039,12477932,11733950,10493891,9809749,8889549,7892239 64319 NM_001105079,AC093249,CH471192,AJ712524,AK021680,AK022551,AK093045,AK096322,BG775600,DA527487,DC408959,DR761499 NP_001098549,EAW52215,EAW52216,EAW52217,EAW52218,BAB13872,BAB14094,Q9HAH7 Hs.247186 FBS|FBS1|FLJ11618 protein-coding 1320989 FBXL10 F-box and leucine-rich repeat protein 10 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. 737633,1580863 10799292,17994099,17704768,17672918,16362057,15520277,15489334,15302935,14702039,12477932 737633 84678 NM_032590,NM_001005366,AC048337,AC073650,AC145422,CH471054,AA504464,AB031230,AJ459424,AK027440,AK027692,AK074718,AK097933,AK127328,AL133572,BC008735,BC028612,BC115379,BC115380,BX648928,CR622952 NP_115979,NP_001005366,EAW98266,EAW98267,EAW98268,BAA97672,CAD30700,BAB55112,BAB55301,BAC11159,CAB63721,AAH08735,AAI15380,AAI15381,Q1RLM6,Q1RLM7,Q8NHM5 Hs.524800 CXXC2|Fbl10|JHDM1B|KDM2B|PCCX2 protein-coding 1319753 FBXL11 F-box and leucine-rich repeat protein 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least 6 highly degenerated leucine-rich repeats. 1580863 15070733,17081983,16362057,15635413,15489334,15231748,14702039,12477932,12168954,11214971,10945468,10531037,10531035,10231032 22992 NM_012308,AP000729,AP001885,CH471076,AB023221,AF179221,AK022684,AK024505,AK128293,AL117517,BC001203,BC027467,BC047371,BC047486,BC056905,BC064360,CR613662 NP_036440,EAW74578,EAW74579,EAW74580,BAA76848,AAD56012,BAB15795,CAH10721,AAH01203,AAH47371,AAH47486,AAH64360,Q9Y2K7 Hs.124147 GDB:9957858 CXXC8|DKFZP434M1735|FBL11|FBL7|FLJ00115|FLJ46431|JHDM1A|KDM2A|KIAA1004|LILINA protein-coding 1313605 FBXL12 F-box and leucine-rich repeat protein 12 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15761153,15520277,15489334,14702039,12477932,10531037 54850 CR610493,CR611175,CR611669,CR613783,CR614447,CR614471,CR626568,NM_017703,AC008752,CH471106,AK000195,AK027004,AK093760,BC001586,BX647073,CR590448,CR592319,CR605677 Q9NXK8,NP_060173,EAW84051,EAW84052,EAW84053,BAA91002,BAB15622,AAH01586 Hs.12439 FLJ20188|Fbl12 protein-coding 1353687 FBXL13 F-box and leucine-rich repeat protein 13 Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15820312,15520277,15489334,15342556,14702039,12853948,12477932,9847074 222235 BC020572,BC020575,BC026121,BC031285,BG717734,BP378950,NM_145032,NM_001111038,AC005250,AC006477,AC073127,CH471070,AK095387,AK097537,AL713709,AY359238,AY359239 AAH20572,AAH20575,AAH26121,AAH31285,Q4G192,Q8N1P0,Q8NEE6,ABM82468,ABM85656,NP_659469,NP_001104508,AAP22333,AAS00354,EAW83298,EAW83299,EAW83300,EAW83301,EAW83302,EAW83303,EAW83304,EAW83305,EAW83306,BAC04540,BAC05092,CAD28506,AAR13262,AAR13263 Hs.660029 FLJ38068|Fbl13|MGC21636 protein-coding 1313599 FBXL14 F-box and leucine-rich repeat protein 14 Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 15520277,15489334,12477932 737633 144699 NM_152441,AC004671,AC005182,CH471116,BC028132 NP_689654,EAW88928,EAW88929,EAW88930,AAH28132,Q8N1E6 Hs.367956 Fbl14|MGC40195 protein-coding 1315065 FBXL15 F-box and leucine-rich repeat protein 15 1580863 15489334,15164054,14702039,12477932 79176 NM_024326,AL121928,CH471066,AK122684,BC002912,BC036120,BC130566,CR591228,CR592302,CR595934,CR601691,CR614978,CR616238,CR626178 NP_077302,EAW49699,AAH02912,AAH36120,AAI30567,Q5JWA7,Q5JWA8,Q5JWA9,Q5JWB0,Q9H469 Hs.380081 FBXO37|FLJ16137|Fbl15|JET|MGC11279|PSD protein-coding 1319294 FBXL16 F-box and leucine-rich repeat protein 16 Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15616553,15520277,15489334,14702039,12477932,11157797 146330 NM_153350,AE006464,CH471112,Z97653,AK091054,BC034014,BC036680 NP_699181,AAK61245,EAW85749,EAW85750,CAJ55832,AAH34014,AAH36680,Q8N461,Q8N4J3 Hs.513244 C16orf22|FLJ33735|Fbl16|MGC33974|c380A1.1 protein-coding 1348950 FBXL17 F-box and leucine-rich repeat protein 17 Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15520277,14702039,12477932 64839 NM_022824,AC008462,AC008513,AC011419,AC092274,AC113358,CH471086,AK126722,AL133602,BC018548,BC063316,BC126144,BC126146 NP_073735,EAW49061,EAW49062,BAC86658,CAB63737,AAH63316,AAI26145,AAI26147,Q4G0J5,Q9UF56 Hs.657225 DKFZp434C1715|FBXO13|Fbl17|Fbx13|MGC161422|MGC161424 protein-coding 1352891 FBXL18 F-box and leucine-rich repeat protein 18 Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 16189514,15520277,15489334,14702039,12477932 80028 NM_024963,AC006483,AC092171,CH471144,AA878073,AK001638,AK021529,AK057042,AK095394,AK123535,AK130444,BC004228,BC006426,BC013435,BC015445,BC024256,BC042819 NP_079239,EAW87337,EAW87338,EAW87339,EAW87340,BAB13838,BAB71354,BAC85637,AAH04228,AAH06426,AAH13435,AAH24256,Q6ZW68,Q96D16,Q96ME1 Hs.623974,Hs.706587 FLJ10776|FLJ11467|FLJ26934|FLJ38075|FLJ41541|Fbl18 protein-coding 1322203 FBXL19 F-box and leucine-rich repeat protein 19 Members of the F-box protein family, such as FBXL19, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15616553,15547684,15520277,15489334,14702039,12477932 54620 NM_001099784,AC135048,CH471192,AK098777,AK127701,AL137589,BC032391,BC048811,BC059173,CX781342,DC401737 NP_001093254,EAW52187,EAW52188,EAW52189,EAW52190,BAC05410,CAB70830,AAH59173,Q6PCT2 Hs.152149 DKFZp434K0410|Fbl19|JHDM1C|MGC50505 protein-coding 736852 FBXL2 F-box and leucine-rich repeat protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. 632681 10508920,10531037,10531035,17784784,15489334,14702039,12477932,10945468,16189514,15893726 632681 25827 AC122176,NM_012157,AC123900,CH471055,AF174589,AF176518,AF186273,AK001271,AK001438,AL049953,BC031556,CR457121 NP_036289,EAW64452,EAW64453,AAF04510,AAF03128,AAD56248,BAA91691,CAB43222,AAH31556,CAG33402,Q6IAN3,Q9UKC9,ABM82090,ABM85271 Hs.475872 GDB:10796926 DKFZP564P0622|FBL2|FBL3 protein-coding 1345687 FBXL20 F-box and leucine-rich repeat protein 20 Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 17803915,15520277,15489334,12477932 737633 84961 NM_032875,AC005288,AC015910,CH471152,AK123048,AK291844,BC007557,DQ223959 NP_116264,EAW60573,EAW60574,BAF84533,AAH07557,ABB03906,Q96IG2 Hs.462946 Fbl2|Fbl20|MGC15482|SCR|SCRAPPER protein-coding 1343721 FBXL21 F-box and leucine-rich repeat protein 21 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 6 tandem leucine-rich repeats. The amino acid sequence of this protein is highly similar to that of f-box and leucine-rich repeat protein 3A. 1580863 10531035,12477932 26223 NM_012159,AC002428,CH471062,AF129533,BC044938,BC106753 NP_036291,EAW62202,EAW62203,AAF04467,AAH44938,AAI06754,Q3KPF8,Q86ST0,Q9UKT6 Hs.591275 FBL3B|FBXL3B|FBXL3P|Fbl21|MGC120237 protein-coding 1350469 FBXL22 F-box and leucine-rich repeat protein 22 Members of the F-box protein family, such as FBXL22, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 15520277,15489336,15489334,14702039,12477932,11076863,16381901 737633 283807 NM_203373,AC118274,CH471082,AK096945,BC065833 NP_976307,EAW77653,AAH65833,Q0JRW6,Q0JUD1,Q0JUX7,Q6P050,CAL37683,CAL37880,CAL38041,CAL38212,CAL38748 Hs.656997 FLJ39626|Fbl22|MGC75496 protein-coding 1343078 FBXL3 F-box and leucine-rich repeat protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. 1580863 10531035,17463251,15489334,12477932,10945468,10828603,10531037 26224 NM_012158,AC001226,CH471093,AF126028,AF129532,AI133484,AK025484,AL833187,BC063796,BC072448 AAH72448,Q9UKT7,NP_036290,EAW80563,AAF37383,AAF04466 Hs.508284 FBL3|FBL3A|FBXL3A protein-coding 1313923 FBXL4 F-box and leucine-rich repeat protein 4 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least 9 tandem leucine-rich repeats. 1580863 10531035,15489334,14574404,12477932,10945468,10531037 26235 NM_012160,AL022395,CH471051,AF174590,AF176699,AF199355,AI935511,AJ420594,AL523022,BC032641,BC039819,BC055010,BC091484,BQ213738,CR590319,CR605444 NP_036292,CAB37981,EAW48488,EAW48489,EAW48490,AAF04511,AAF03699,AAF09247,AAH55010,AAH91484,Q9UKA2 Hs.708227 GDB:10796931 FBL4|FBL5 protein-coding 1315757 FBXL5 F-box and leucine-rich repeat protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternative splicing of this gene generates 2 transcript variants. 1580863 10531035,17532294,16381901,15489336,15489334,14702039,12477932,11230166,11076863,10945468,10531037,9110174,8619474,16189514 26234 NM_012161,NM_033535,AC114744,AC116651,CH471069,AF052097,AF142481,AF157323,AF174591,AF176700,AF199420,AK000153,AL832808,BC012320,BC030656,BI464829,BQ008436,BX537957 NP_036293,NP_277077,AAY40929,EAW92736,EAW92737,EAW92738,EAW92739,AAF66616,AAF67489,AAF04512,AAF03700,AAF09249,BAA90978,AAH30656,CAD97924,Q0JT12,Q0JVB7,Q4W5A8,Q9UKA1,CAL37543,CAL38352,ABM83378,ABM86590 Hs.709284 GDB:10796933 FBL4|FBL5|FLR1 protein-coding 1353759 FBXL6 F-box and leucine-rich repeat protein 6 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternative splicing of this gene generates 2 transcript variants. 1580863 10531035,15489334,14702039,12477932,10531037,9373149,8125298 26233 NM_024555,AF205589,CH471162,AF174592,AF370422,AK026541,AK223088,AL713783,BC033066,NM_012162 NP_036294,NP_078831,EAW82117,EAW82118,EAW82119,EAW82120,EAW82121,EAW82122,AAF04513,AAQ15258,BAB15499,BAD96808,Q53G43,AAH33066,Q71RB6,Q8N531 Hs.12271 GDB:10796934 FBL6|FBL6A|PP14630 protein-coding 1314074 FBXL7 F-box and leucine-rich repeat protein 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. 1580863 15070733,10531035,16000324,15489334,14702039,12477932,12168954,10945468,10531037,10048485 23194 NM_012304,AC010477,AC010638,AC027332,AC091872,AC091970,CH471102,AB020647,AF174593,AF199356,AK021671,AY425960,BC050571,BC075061 NP_036436,EAX08028,EAX08029,BAA74863,AAF04514,AAF09248,AAR07953,AAH75061,Q6TAQ9,Q9UJT9 Hs.433057 GDB:9955063 FBL6|FBL7 protein-coding 1352579 FBXL8 F-box and leucine-rich repeat protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. 1580863 15489334,14702039,12477932,10531037 55336 NM_018378,AC074143,CH471092,AK002140,BC014414,CR598009,CR611910 NP_060848,EAW83082,BAA92103,AAH14414,Q96CD0,ABM84591,ABM86700 Hs.512156 GDB:11506018 FBL8|FLJ11278|MGC19959 protein-coding 1313507 FBXO10 F-box protein 10 Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 10531035,10531037,15520277,15164053,15146197,14702039,11181995 26267 NM_012166,AL513165,CH471071,AB209610,AF174598,AF176705,AI475671,AK123986,BC013747,BC125124,BC125125,BC140785,BU623815,CN411883 NP_036298,CAI16152,EAW58274,EAW58275,EAW58276,BAD92847,AAF04519,AAF03705,AAI25125,AAI25126,AAI40786,Q08AL3,Q08AL4,Q59F51,Q9UK96 Hs.709527 GDB:10796948 FBX10|FLJ41992|MGC149840 protein-coding 1348534 FBXO11 F-box protein 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 16487488,17098746,10531035,10531037,16847180,15489334,14702039,12477932,11775060,9373149,8125298 80204 NM_025133,NM_018693,NM_012167,NG_007111,AC006509,AC079807,CH471053,AF174599,AF176706,AF264714,AF351618,AK022735,AK025477,AK097734,AK223592,AK292877,AL117620,AY827075,BC012728,BC043258,BC130445,BC136480 NP_079409,NP_061163,NP_036299,AAY24083,EAX00202,EAX00203,EAX00204,EAX00205,EAX00206,EAX00207,AAF04520,AAF17611,AAF76888,AAN76518,BAB14214,BAB15143,BAD97312,BAF85566,CAB56019,AAV87312,AAH12728,AAH43258,AAI30446,AAI36481,Q53RT5,Q86XK2 Hs.352677 GDB:10796949 FBX11|FLJ12673|MGC44383|PRMT9|UG063H01|VIT1 protein-coding 1321642 FBXO15 F-box protein 15 Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15520277,15489334,14702039,12665572,12477932,10531037 201456 NM_152676,AC084702,AC090125,CH471117,AK093252,AK094215,BC029579 NP_689889,EAW66536,EAW66537,EAW66538,EAW66539,AAH29579,Q8NCQ5 Hs.664011 FBX15|MGC39671 protein-coding 1312847 FBXO16 F-box protein 16 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. 1580863 15489334,14702039,12477932,12243353,10531035 157574 AK098243,AL560247,BC074986,BC102026,BC102027,BC102028,CR590799,NM_172366,AC025871,CH471080,AF453435 AAN76812,AAH74986,AAI02027,AAI02028,AAI02029,Q3T1B2,Q3T1B3,Q8IX29,NP_758954,EAW63512,EAW63513,EAW63514,EAW63515,EAW63516,EAW63517,EAW63518 Hs.659190 FBX16|MGC125923|MGC125924|MGC125925 protein-coding 1318004 FBXO17 F-box protein 17 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing of this gene results in 2 transcript variants encoding different isoforms. 11178263,17672918,15489334,14702039,12477932,12383498,10531037 115290 NM_024907,NM_148169,AC011455,CH471126,AF386743,AK021860,AK057934,BC012385,CR621585 NP_079183,NP_680474,EAW56853,EAW56854,EAW56855,AAL37625,BAB13917,BAB71616,AAH12385,Q96EF6,Q9HAD2,ABM82255,ABM84283,ABM85438,ABM87675 Hs.531770 FBG4|FBX26|FBXO26|FLJ11798|FLJ25205|Fbx17|MGC9379 protein-coding 1314839 FBXO18 F-box protein, helicase, 18 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 17724085,15489334,15164054,14702039,12477932,11956208,10531037,16189514 84893 AK027381,AK027496,AK095343,AK122753,AK226128,AL133069,AL832251,BC006430,BC012762,BC020266,BC032674,BC080629,BC110884,BC113375,BC113377,CR596857,NM_178150,NM_032807,AL137186,CH471072,AF380349,AF454502,AF456237 AAP97705,BAB55073,BAB55154,BAC04535,CAB61392,AAH06430,AAH12762,AAH32674,AAH80629,AAI10885,AAI13376,AAI13378,Q14DG0,Q2TAK1,Q5JVB0,Q5JVB6,Q66K33,Q8NFZ0,NP_835363,NP_116196,CAI41073,CAI41074,CAI41075,EAW86424,EAW86425,EAW86426,EAW86427,EAW86428,AAM73631,AAP97700 Hs.498543 FBH1|FLJ14590|Fbx18|MGC131916|MGC141935|MGC141937 protein-coding 732900 FBXO2 F-box protein 2 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is highly similar to the rat NFB42 (neural F Box 42 kDa) protein which is enriched in the nervous system and may play a role in maintaining neurons in a postmitotic state. 1580863 10531035,16710414,15489334,12904574,12477932,12383498,12140560,10531037,9857061 26232 NM_012168,AL031731,CH471130,AF174594,AF187318,AW138262,BC014957,BC025233,BC096747,BF967195,BM128229,CR542110,H18283 NP_036300,Q9UK22,ABM83774,ABM83775,ABM87094,CAI20209,EAW71689,AAF04515,AAF01822,AAH25233,AAH96747,CAG46907 Hs.132753 GDB:10796936 FBG1|FBX2|Fbs1|NFB42 neural f box protein nfb42 protein-coding 1316490 FBXO21 F-box protein 21 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. 1580863 10048485,11230166,10531035,15489334,14702039,12477932,12421765 23014 NM_033624,NM_015002,AC026364,AC026368,CH471054,AB020682,AF174601,AK001699,AK074714,AL136899,BC034045,BC042333,BC091496,BI550121,CR593322 NP_296373,NP_055817,EAW98102,EAW98103,EAW98104,EAW98105,EAW98106,BAA74898,AAF04522,CAB66833,AAH34045,AAH42333,AAH91496,O94952,Q4G104,Q8IUQ5 Hs.159699 GDB:9954691 DKFZp434G058|FBX21|FLJ90233|KIAA0875|MGC26682 protein-coding 1315406 FBXO22 F-box protein 22 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Two transcript variants encoding different isoforms exist for this gene. 1580863 10531037,10531035,15489334,14702039,12477932,9373149,8125298 26263 CR609855,CR618654,NM_147188,NM_012170,AC027104,AF174602,CH471136,AK024048,AK026282,AK223500,AL705308,AY005144,BC020204,BC032540,BC039024,BC041691,BE738571,BG328756,CR608996 Q53EY9,Q8NEZ5,NP_671717,NP_036302,AAF04523,EAW99229,EAW99230,EAW99231,EAW99232,BAB14798,BAD97220,AAF89095,AAH20204,AAH32540,AAH39024,AAH41691 Hs.591115 GDB:10796951 FBX22|FLJ13986|MGC31799 protein-coding 1602355 FBXO22OS F-box protein 22 opposite strand 692224 NR_003136,AC027104 HsT18082 miscrna 1312922 FBXO24 F-box protein 24 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates two transcript variants. 1580863 10531035,15489334,12853948,12690205,12477932,11230166,10531037,9847074 26261 NM_033506,NM_012172,AC069281,AF053356,CH236956,CH471091,AF174604,AK292240,AL136811,BC032497,BC051745,BC067293,BU656991 NP_277041,NP_036304,AAP21862,AAP21863,AAC78801,EAL23826,EAL23827,EAW76516,EAW76517,EAW76518,AAF04525,BAF84929,CAB66745,AAH67293,O75426 Hs.283764 GDB:10796953 DKFZp434I1122|FBX24 protein-coding 1603223 FBXO25 F-box protein 25 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 10531035,16278047,15489334,12477932,10531037,7566098 26260 NM_183421,NM_183420,NM_012173,AC083964,CH471181,AA316216,AB070270,AF174605,AF419858,AI223050,BC012143,BC020249,BC035555,BC050393,CR591359,CR596773 NP_904357,NP_904356,NP_036305,EAW51450,EAW51451,EAW51452,EAW51453,EAW51454,EAW51455,BAB85128,AAF04526,AAP97293,AAH20249,AAH50393,Q8TCJ0 Hs.438454 GDB:10796955 FBX25|MGC20256|MGC51975 protein-coding 1343305 FBXO27 F-box protein 27 Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15520277,15489334,12477932,12383498,126433 126433 NM_178820,AC010605,CH471126,AF436061,BC014527,BC030060,CR615928 NP_849142,EAW56856,AAM27918,AAH14527,AAH30060,Q8NI29 Hs.187461 GDB:11510046 FBG5|Fbx27 protein-coding 1312107 FBXO28 F-box protein 28 Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 17081983,16710414,16189514,15520277,15489334,14702039,12477932,9455484 737633 23219 NM_015176,AL390122,CH471098,AB007952,AK001628,BC031576,CR607611,CR607640 NP_055991,CAH70934,EAW69709,EAW69710,BAA32327,BAA91795,AAH31576,Q9NVF7 Hs.64691 FLJ10766|Fbx28|KIAA0483 protein-coding 1314921 FBXO3 F-box protein 3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3' end. 1580863 10531035,14702039,12477932,11230166,10945468,10531037 26273 NM_012175,NM_033406,AC113192,AL049629,CH471064,AB209039,AF174595,AF176702,AK001943,AK128454,AL136625,AL832826,BC017107,BC039291,BC046110,BG716664,CR594730 NP_036307,NP_208385,EAW68186,EAW68187,EAW68188,EAW68189,EAW68190,EAW68191,BAD92276,AAF04516,AAF03702,BAA91991,CAB66560,AAH39291,AAH46110,Q49AF1,Q59GS0,Q86X90,Q9H0V2,Q9UK99,Q9UKC5 Hs.406787 GDB:10796937 DKFZp564B092|FBA|FBX3 protein-coding 1347238 FBXO30 F-box protein 30 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. 1580863 14702039,14574404,12536519,12477932,15761153,15520277,15489334 84085 NM_032145,AL356599,CH471051,AF248640,AK055919,AK123026,AK124138,BC024326,CD109841 NP_115521,CAI41119,EAW47841,AAK30299,AAH24326,Q8TB52 Hs.421095 GDB:11500362 FLJ41030|Fbx30|MGC21674 protein-coding 1351564 FBXO31 F-box protein 31 Members of the F-box protein family, such as FBXO31, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 16381901,16357137,15520277,15489336,15489334,12477932,12213200,11230166,11076863 79791 NM_024735,AC010531,CH471114,AF318348,AF428140,AK026130,AL117444,AL136762,AY736035,BC002985,BC012748,BC015536 NP_079011,EAW95400,EAW95401,EAW95402,EAW95403,EAW95404,AAL55855,AAQ04213,BAB15370,CAB55929,AAU50679,AAH12748,Q5XUX0,Q8WYV1,Q9H693,CAL37700,CAL37948 Hs.567582 GDB:11508868 DKFZP434B027|DKFZp434J1815|FBX14|FBXO14|FLJ22477|Fbx31|MGC15419|MGC9527|pp2386 protein-coding 734419 FBXO32 F-box protein 32 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing of this gene results in two transcript variants encoding two isoforms of different sizes. 633893,1580863 17992259,17977773,17971512,17901116,17609255,17519359,17478621,16868939,16507768,14702039,12477932,11717410,11679633,16189514 633893 114907 NM_148177,AC090193,CH471060,AJ420108,AK056986,AY059629,BC024030,BC100020,BC120963,BC120964,EF143260,NM_058229 EAW92040,EAW92041,EAW92042,EAW92043,CAD12251,BAB71333,AAL16407,AAH24030,AAI00021,AAI20964,AAI20965,ABO37797,Q0VAQ6,Q498Y9,Q969P5,NP_680482,NP_478136 Hs.403933 GDB:11500624 FLJ32424|Fbx32|MAFbx|MGC33610 f-box only protein 32 protein-coding 1316797 FBXO33 F-box protein 33 Members of the F-box protein family, such as FBXO33, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15520277,15489334,12477932 254170 NM_203301,AL049875,AL157791,CH471078,BC030611,BC042535,BC053537,BC068566,BX248772 NP_976046,EAW65803,AAH42535,AAH53537,AAH68566,CAD66579,Q7Z6M2 Hs.324342 Fbx33|c14_5247 protein-coding 1320823 FBXO34 F-box protein 34 Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15761153,15520277,15489334,14702039,12477932,9373149,8125298 55030 CH471061,AF531436,AK000732,AK092873,AK092879,AK225367,BC020583,BC063526,BC095482,BC109120,BC109121,BF977310,BX248268,BX648092,CA428544,CR457249,CR622458,CR622495,NM_017943,AL158801,AL834124 EAW80669,EAW80670,EAW80671,AAM96689,BAA91346,AAH95482,AAI09121,AAI09122,CAD62596,CAG33530,P59074,Q4VBP5,Q9NWN3,NP_060413 Hs.525348,Hs.654725 CGI-301|DKFZp547C162|FLJ20725|Fbx34|MGC126434|MGC126435 protein-coding 1317314 FBXO36 F-box protein 36 Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 15520277,15489334,14702039,12477932 737633 130888 NM_174899,AC009973,CH471063,AK094911,AK123085,AK289655,BC017869,BC022538,BC033935,BF674223,BM997950,CR593898 NP_777559,AAY14756,EAW70909,EAW70910,EAW70911,EAW70912,BAF82344,AAH17869,AAH22538,AAH33935,Q4G1B0,Q53TE6,Q8NEA4 Hs.140666 FLJ37592|FLJ41090|Fbx36 protein-coding 1322999 FBXO38 F-box protein 38 15498874,15489334,15302935,14729953,14702039,12477932 81545 BC078159,BI459318,AK024024,AL832841,BC005849,BC005873,BC015366,BC033454,BC047743,BC050424,BC056147,NM_205836,NM_030793,AC091948,AC114939,CH471062,AF177339,AF251055 AAH56147,AAH78159,Q6AZE0,BAB14783,AAH05849,AAH05873,AAH15366,AAH33454,AAH50424,Q6PIJ6,NP_995308,NP_110420,EAW61805,EAW61806,EAW61807,EAW61808,AAG17983,AAK34945 Hs.483772 Fbx38|MOKA|SP329 protein-coding 1322937 FBXO39 F-box protein 39 Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633,1580863 15520277,15489334,12477932 737633 162517 NM_153230,AC034305,CH471108,BC034782 NP_694962,EAW90286,AAH34782,Q8N4B4 Hs.368364 Fbx39|MGC35179 protein-coding 1316856 FBXO4 F-box protein 4 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. 1580863 16275645,17353931,10531035,17081987,16581786,16344560,15520277,15489334,15302935,14702039,12477932,10828603,10531037 26272 NM_012176,NM_033484,AC034222,CH471119,AF129534,AF176703,AK001003,AK024075,AU143782,BC040011,BC048098,CR600197,CR749719 NP_036308,NP_277019,EAW56019,EAW56020,AAF04468,AAF03703,BAA91463,AAH48098,CAH18486,Q9NWC0,Q9UKT5 Hs.165575 GDB:10796938 DKFZp547N213|FBX4|FLJ10141 protein-coding 1320304 FBXO40 F-box protein 40 Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 17928169,16344560,15520277,15489334,12477932,10574462 51725 NM_016298,AC063920,AC069239,CH471052,AB033021,AF163259,AF204674,BC109275,BC109276,DB081227 NP_057382,EAW79507,EAW79508,BAA86509,AAQ13588,AAF17085,AAI09276,AAI09277,Q7Z2T7,Q9UH90 Hs.272564 FBX40|KIAA1195|MGC129902|MGC129903 protein-coding 1351223 FBXO41 F-box protein 41 Members of the F-box protein family, such as FBXO41, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 1580863 15070733,15815621,15520277,14702039,12477932,11853319 150726 NM_001080410,AC010913,AB075820,AK055121,AK095028,AK127503,BC112202,CR936834 NP_001073879,BAB85526,AAI12203,Q2M1V8,Q8TF61 Hs.23158 FLJ37709|Fbx41 protein-coding 1312431 FBXO42 F-box protein 42 Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 16710414,15520277,15489334,14702039,12477932,10718198 737633 54455 NM_018994,AL109627,AL358794,CH471167,AB037753,AK025059,AK055598,AL833207,AL833874,BC006174,BC032439,BC043410,BC047296,BC063864,CR602597,CR615859 NP_061867,CAI22560,CAI22561,EAW51774,EAW51775,BAA92570,CAD38731,AAH06174,AAH32439,AAH43410,AAH63864,Q6P3S6 Hs.522384 Fbx42|KIAA1332 protein-coding 1321003 FBXO43 F-box protein 43 Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 16456547,16407128,16344560,15753281,15520277,15489334,12477932 286151 NM_001077528,NM_001029860,AC021590,BC028709,BC090892,BG391951,DB056068 NP_001070996,NP_001025031,Q4G163,AAI56851 Hs.339577 EMI2|ERP1|Fbx43 protein-coding 1606989 FBXO44 F-box protein 44 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Four alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. 16710414,15520277,15489334,14702039,12477932,12383498,10531035 93611 NM_183412,NM_001014765,NM_033182,NM_183413,AL031731,CH471130,AK055344,AY007380,AY040878,BC007832,BM903606,CR749368 NP_904319,NP_001014765,NP_149438,NP_904320,CAI20210,CAI20211,CAI20212,CAI20213,EAW71690,EAW71691,EAW71692,EAW71693,EAW71694,EAW71695,AAG09623,AAK77940,AAH07832,CAH18221,Q9H4M3 Hs.556006 DKFZp781J0852|FBG3|FBX30|FBX6A|Fbx44|Fbxo6a|MGC14140 protein-coding 1349858 FBXO45 F-box protein 45 Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 16012741,15520277 200933 AC092933,CH471191,AK025697,BE047625,BE778263,CA445163,DB636510,NM_001105573 EAW53643,EAW53644,P0C2W1,NP_001099043 Hs.169815 Fbx45 protein-coding 1318136 FBXO46 F-box protein 46 Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 17081983,15520277,15489334,12477932,9585442 737633 23403 NM_001080469,AC007191,AC007774,BC008046,BC013570,BC021978,BC046245,CR594072,Y10936 NP_001073938,AAH21978,CAA71862,O00439,Q6PJ61 Hs.128702 20D7-FC4|FBXO34L|Fbx46 protein-coding 1606618 FBXO47 F-box protein 47 15723337 494188 NM_001008777,AC006441,CH471152,AY700575,BC140879,BC140880 NP_001008777,EAW60546,AAV91324,AAI40880,AAI40881,Q5MNV8 Hs.549536 protein-coding 1605751 FBXO48 F-box protein 48 12477932 554251 NM_001024680,AC127383,CH471053,BC089423,DQ904332 NP_001019851,EAW99873,AAH89423,ABI98402,Q5FWF7 Hs.164117 protein-coding 1319734 FBXO5 F-box protein 5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. 1580863 11988738,12791267,16921029,15469984,17676996,17609108,17485488,17234884,17190794,16861914,16439210,15489334,15148369,14702039,14574404,12703993,12477932,11976684,11389834,10828603,10531037,10531035,10409428,16189514 26271 NM_012177,AL080276,CH471051,AF129535,AJ420499,AK026197,AK055221,AY079515,BC018905,BG944882 NP_036309,CAI18894,CAI18895,EAW47718,EAW47719,EAW47720,AAF04469,AAL86610,AAH18905,Q5TF47,Q9UKT4,ABM82848,ABM86032 Hs.708125 GDB:10796940 EMI1|FBX5|Fbxo31 protein-coding 1352122 FBXO6 F-box protein 6 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. 1580863 10531035,16710414,15489334,12939278,12477932,12383498,10945468,10531037 26270 NM_018438,AL031731,CH471130,AF129536,AF233223,BC020880 NP_060908,CAI20214,CAI20215,EAW71696,AAF04470,AAF67153,AAH20880,Q9NRD1 Hs.464419 GDB:10796942 FBG2|FBS2|FBX6|Fbx6b protein-coding 1313800 FBXO7 F-box protein 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. 1580863 15145941,10531035,16581786,16510124,16381901,15489336,15489334,15461802,14702039,12529303,12527899,12477932,11076863,10945468,10737800,10591208,10531037,16189514 25793 BI821903,BQ326686,BU584368,BX362053,BX409547,BX648151,BX648220,CR456491,CR590485,CR593358,CR594073,CR595323,CR595682,CR595967,CR597417,CR601059,CR603352,CR604183,CR605462,CR608700,CR609315,CR610260,CR612081,CR614931,CR615136,CR615639,CR615847,BC041004,NM_012179,NM_001033024,AL021937,AL035068,CH471095,Z71183,AF129537,AF233225,AK054739,AK226087,AK291972,AL050254,BC008361,CR617506,CR618551,CR625215,CR626566,CR626751,BX648644 AAH41004,CAG30377,NP_036311,NP_001028196,CAI19587,CAI19588,CAM27809,CAM27810,CAI19333,CAI19334,EAW60023,EAW60024,EAW60025,EAW60026,CAI18782,CAI18783,AAF04471,AAF67155,BAF84661,CAB43356,AAH08361,Q0JV42,Q49AB8,Q5HYB3,Q5TGC3,Q9Y3I1,CAI46263,CAL37618,CAK54519,CAK54818,ABW03590,ABW03591 Hs.709325 GDB:10796944 DKFZp686B08113|FBX|FBX07|FBX7 protein-coding 1316882 FBXO8 F-box protein 8 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. 1580863 10945468,15489334,14702039,12975309,12477932,10531037,10531035 26269 AC097653,CH471056,AF115514,AF174596,AF201932,AF233224,AK026319,AK123740,AL602916,AY358721,BC014679,BC014903,NM_012180,BC040456,CR592920,CR603561,CR617381,CR620156,CR620476,CR621638,CR624994 NP_036312,EAX04741,EAX04742,EAX04743,EAX04744,EAX04745,AAO06951,AAF04517,AAF86868,AAF67154,AAQ89083,AAH14679,AAH40456,Q8IWE1,Q8IXA8,Q9NRD0 Hs.76917 GDB:10796946 DC10|FBS|FBX8 protein-coding 1321245 FBXO9 F-box protein 9 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. 1580863 10531035,10531037,15520277,15489334,14702039,14574404,12477932,10508479,8889549 26268 NM_033480,NM_012347,AL031178,CH471081,AA132361,AA890006,AB209833,AF174597,AF176704,AK021559,AK095307,NM_033481,AK095315,AL137520,AY858798,BC000650,BC024973,BX641082,CR603015,CR625061 NP_258442,NP_258441,NP_036479,CAI20262,CAI20263,EAX04405,EAX04406,EAX04407,EAX04408,EAX04409,EAX04410,BAD93070,AAF04518,AAF03704,CAB70786,AAW51115,AAH00650,Q4W8W0,Q59EH8,Q9UK97 Hs.216653 GDB:10796947 DKFZp434C0118|FBX9|KIAA0936|NY-REN-57|VCIA1|dJ341E18.2 protein-coding 1344414 FBXW10 F-box and WD repeat domain containing 10 Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 16344560,15520277,12477932,11230166 10517 NM_031456,AC107982,AL136822,AY729024,BC028364,BI828401,DB055860 NP_113644,CAB66756,AAU43731,AAH28364,Q5XX13 Hs.592128 Fbw10|HREP|SM25H2|SM2SH2 f-box and wd-40 domain protein 10 protein-coding 1344741 FBXW10P1 F-box and WD-40 domain protein 10 pseudogene 1 446204 1319284 FBXW11 F-box and WD repeat domain containing 11 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. 10644755,9734811,17121803,16189514,14603323,15070733,17353931,10531035,16865294,15489334,14743216,12481031,12477932,11896578,10694485 23291 NM_033645,NM_033644,NM_012300,AC011387,AC011410,AC113342,CH471062,AB014596,AB033279,AB033280,AB033281,AF176022,BC026213 NP_387449,NP_387448,NP_036432,EAW61440,BAA31671,BAA92329,BAA92330,BAA92331,AAF04528,AAH26213,Q9UKB1,ABM82051,ABM85230 Hs.484138 BTRC2|BTRCP2|FBW1B|FBXW1B|Fbw11|Hos|KIAA0696 protein-coding 1349057 FBXW11P1 F-box and WD repeat domain containing 11 pseudogene 1 10830953 54099 NG_000930,AP000252 BTRC2P|FBXW1BP|FBXW1BP1 f-box and wd-40 domain protein 11 pseudogene 1 pseudo 1352427 FBXW12 F-box and WD repeat domain containing 12 Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 15520277,15040455,14702039,12477932 285231 NM_207102,AC104448,CH471055,AK097594,AY247969,BC101303,BC101304,BC101305,BC101306 NP_996985,EAW64863,AAP75562,AAI01304,AAI01305,AAI01306,AAI01307,Q494Y9,Q494Z0,Q494Z1,Q6X9E4 Hs.288793 FBXO12|FBXO35|Fbw12|MGC120385|MGC120386|MGC120387 f-box and wd-40 domain protein 12 protein-coding 1321373 FBXW2 F-box and WD repeat domain containing 2 F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. 1580863 15070733,10531035,16344560,15640526,14702039,14603323,12477932,10828603,10531037,9635407,7670494,16189514 26190 NM_012164,AL138836,AL161911,CH471090,AF129531,AF145024,AF176698,AF193594,AK022484,AK025767,AK054580,AK091860,AK095377,BC000239,BC018738,BC024204,BC110334,BX537625,DA703966,U29107 NP_036296,CAI95113,CAI95114,EAW87470,AAF04465,AAP97276,AAF13226,AAP97280,BAB14051,AAH18738,AAI10335,Q4VXH1,Q9UKT8,ABM83271,ABM86476 Hs.494985 GDB:10796957 FBW2|Fwd2|MGC117371|Md6 f-box and wd-40 domain protein 2 protein-coding 1603710 FBXW4 F-box and WD repeat domain containing 4 This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. 10405324,10945468,16761290,16235095,15489334,15232212,15164054,14702039,14699611,14603323,12974740,12913067,12477932,8723077,7912888 6468 NM_022039,AC010789,AL627144,AL627424,CH471066,AF281859,AK056917,AK123173,BC007380,BC063415,CR595186 NP_071322,CAI12230,CAI12231,CAI12232,CAI41025,CAI41027,EAW49751,EAW49752,EAW49753,AAG22739,AAH07380,AAH63415,P57775,Q5SVS2,Q5SVS3 Hs.500822 GDB:386030 DAC|FBW4|FBWD4|SHFM3|SHSF3 protein-coding 1313822 FBXW5 F-box and WD repeat domain containing 5 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. 15070733,18381890,16189514,15498874,15489334,15164053,14702039,12477932,10531037,10531035 54461 AL807752,CH471090,AB209726,AF217998,AF258569,AK026081,AL137631,BC000850,NM_018998,BC004541,BC009429,BC014130,BC014297,BC031100,BC035355,BI829307,CR601073,CR607375,CR620078 NP_061871,CAI12741,CAI12743,CAI12744,CAI12746,EAW88307,EAW88308,EAW88309,EAW88310,EAW88311,EAW88312,EAW88313,EAW88314,EAW88315,BAD92963,AAG17240,AAG23772,BAB15354,CAB70851,AAH00850,AAH04541,AAH09429,AAH14130,AAH14297,Q59ET5,Q5SQ00,Q969U6 Hs.522507 DKFZP434B205|Fbw5|MGC20962|RP11-229P13.10 protein-coding 1347453 FBXW7 F-box and WD repeat domain containing 7 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Three transcript variants encoding three different isoforms have been found for this gene. 1580863 15070733,17157259,12354302,18094723,17992009,17909001,17873522,17646409,17646408,17320938,17274947,16938571,16863506,16344560,16210249,16169070,16054087,16023596,15611062,15498494,15489334,15467469,15150404,15103331,14999283,14871801,14743216,14739463,14702039,14648662,14603323,14536078,14507635,12628165,12477932,12183400,11585921,11565034,11565033,11533444,11461910,11425854,10531037,9373149,8125298,7829101 55294 BI496455,BX498391,CR749305,DA321362,W39194,NM_001013415,NM_018315,AC023424,AC080078,CH471056,AB209725,AF383178,AF411971,AF411972,AK001933,AK223449,AW965611,AY008274,AY033553,AY049984,BC037320,BC059373,BC117244,BC117246,BF514288,NM_033632 CAH18160,Q53F40,Q59ET6,Q969H0,NP_361014,NP_001013433,NP_060785,EAX04977,EAX04978,EAX04979,BAD92962,AAK60269,AAL06290,AAL06291,BAA91986,BAD97169,AAG16640,AAK57547,AAL07271,AAH37320,AAI17245,AAI17247 Hs.696040 GDB:11504302 AGO|CDC4|DKFZp686F23254|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10 f-box and wd-40 domain protein 7 (archipelago homolog, drosophila) protein-coding 1314415 FBXW8 F-box and WD repeat domain containing 8 This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 15070733,17314511,17998335,15489334,14702039,12481031,12477932,10531037,10531035 26259 NM_153348,NM_012174,AC026368,AC083806,AC127164,CH471054,AF176707,AK055849,AK289621,BC037296,BC045190,CR621935 NP_699179,NP_036306,EAW98094,EAW98095,EAW98096,EAW98097,AAF03129,BAF82310,AAH37296,Q8N3Y1 Hs.624537,Hs.696428 FBW6|FBW8|FBX29|FBXO29|FBXW6|MGC33534 f-box and wd-40 domain protein 8 protein-coding 1315938 FBXW9 F-box and WD repeat domain containing 9 Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM] 737633 16344560,15520277,15489334,12477932 737633 84261 NM_032301,AC018761,CH471106,AK123037,AW083348,AY736034,BC004290,CR591156,CR595818,CR606148,CR608192,CR614519,CR618672,CR618836,DA079240 NP_115677,EAW84295,EAW84296,EAW84297,AAU50678,Q5XUX1,AAI60094 Hs.515154 Fbw9|MGC10870 f-box and wd-40 domain protein 9 protein-coding 1605024 FCAMR Fc receptor, IgA, IgM, high affinity 15203218,12477932,11779189,11062505,8145026 83953 XM_001713738,XM_001713739,XM_001713740,NM_001122979,NM_001122980,NM_032029,AC098935,CH471100,E15470,AF354295,AI478563,AY063125,AY063126,BC109263,BC109264,BX090153,CD633520,DC361666 XP_001713790,XP_001713791,XP_001713792,NP_001116451,NP_001116452,NP_114418,EAW93513,EAW93514,AAK39522,AAL51154,AAL51155,AAI09264,AAI09265,Q8WWV6 Hs.145519 FCA/MR|FKSG87 protein-coding 1344251 FCAR Fc fragment of IgA, receptor for This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 10835685,2258698,17548632,17393381,17339498,17033823,17008591,16990604,16876821,16293625,15564774,15555551,15489335,15489334,15371488,15085135,14759258,12791088,12783876,12768205,12634059,12594283,12560105,12524384,12477932,11929131,11801662,11478396,11281451,10438530,10380711,10359575,9427690,9367406,8954257,8943858,8917112,8836118,8666916,8666819,8575829,8530370,8408621,7636188,7522255,1577457,8145026,16189514 2204 NM_133269,NM_133271,NM_133272,NM_133278,NM_133274,NM_133273,NM_133277,NM_133279,AB071193,AC011501,AF091543,AF091544,CH471135,CU151839,EF064738,X87765,X87766,X87767,X87769,AK290922,BC027953,CV029531,D87853,NM_002000,D87854,D87855,D87856,D87857,D87858,D87859,D87860,D87861,D87862,DQ075334,DQ075335,DQ075336,DQ075337,DQ075338,DQ075339,S82919,U43677,U43774,U56236,U56237,X90753,X92558,X92559,X92560,X92561,X92562 NP_001991,NP_579803,NP_579805,NP_579806,NP_579812,NP_579808,NP_579807,NP_579811,NP_579813,BAB64914,EAW72291,EAW72292,EAW72293,EAW72294,EAW72295,EAW72296,EAW72297,EAW72298,EAW72299,EAW72300,EAW72301,EAW72302,EAW72303,EAW72304,EAW72305,EAW72306,EAW72307,CAQ09202,CAQ09203,CAQ09204,CAQ09206,CAQ09207,CAQ09208,CAQ09209,CAQ09210,CAQ09211,ABK41921,CAA61039,BAF83611,AAH27953,BAA13471,BAA13472,BAA13473,BAA13474,BAA13475,BAA13476,BAA13477,BAA13478,BAA13479,BAA13480,AAZ76577,AAZ76578,AAZ76579,AAZ76580,AAZ76581,AAZ76582,AAD14421,AAC50595,AAC50639,AAB00566,AAB00567,CAA62276,P24071,Q1AJL7,Q1AJL8,Q1AJL9,Q53X38,Q53X39,Q92587,Q92588,Q92589,Q92591,Q92592,Q92593,Q9UEK0,ABM81861,ABM85024 Hs.659872 GDB:127543 CD89 protein-coding 736318 FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide The IgE receptor plays a central role in allergic disease, coupling allergen and mast cell to initiate the inflammatory and immediate hypersensitivity responses that are characteristic of disorders such as hay fever and asthma. The allergic response occurs when 2 or more high-affinity IgE receptors are crosslinked via IgE molecules that in turn are bound to an allergen (antigen) molecule. A perturbation occurs that brings about the release of histamine and proteases from the granules in the cytoplasm of the mast cell and leads to the synthesis of prostaglandins and leukotrienes--potent effectors of the hypersensitivity response. The IgE receptor consists of 3 subunits: alpha, beta (MIM 147138), and gamma (MIM 147139); only the alpha subunit is glycosylated.[supplied by OMIM] 704404,1580863 2964640,1535625,18321309,18036650,17965580,17883736,17686114,17541278,17521040,17430357,17267694,17165285,17125826,16709862,16581830,16563391,16459334,16339523,16237063,16081836,15743766,15696081,15562891,15489334,15373772,15217825,15140034,14746805,14655898,13129935,12902495,12897750,12855579,12671054,12646639,12477932,12270716,12217383,12200378,12070183,11776381,11531339,11409901,10917520,8752908,8613143,8245459,8125119,2967464,2146219,1533243,1472946,16189514 2205 NM_002001,A21606,AB059236,AL513323,CH471121,L14075,BC005912,BC015185,BC015195,J03605,X06948 NP_001992,CAA01564,BAB84120,CAI15596,CAI15597,EAW52789,AAA16115,AAH05912,AAH15195,AAA36204,CAA30025,P12319,Q6GU38,Q8WYP6,ABM84057,ABM87410,ABM87466 Hs.897 GDB:119902 FCE1A|FcERI fc receptor, ige, high affinity i, alpha polypeptide protein-coding 736226 FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. 704404,1580863 9280292,11788586,1535625,9028946,9295288,17850179,17430357,16710414,15778339,12836193,12626537,12477932,12366784,11980568,11898918,11388899,10942756,10825177,10469124,10194433,10049942,8752908,8071371,2146219,2138619 2207 NM_004106,AL590714,CH471121,M33196,BC033872,M33195 NP_004097,CAH72149,EAW52623,EAW52624,AAH33872,AAA35828,P30273,ABM81708,ABW03303 Hs.433300 GDB:125185 FCRG fc receptor, ige, high affinity i, gamma polypeptide protein-coding 1354370 FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) The human leukocyte differentiation antigen CD23 (FCE2) is a key molecule for B-cell activation and growth. It is the low-affinity receptor for IgE. The truncated molecule can be secreted, then functioning as a potent mitogenic growth factor.[supplied by OMIM] 1580863 7621072,7515913,3034567,2972386,2949326,2877743,1717997,1446976,1417742,1387715,11500085,8450224,12853962,16189514,2529542,18032710,17980418,17635803,17576766,17570115,17540777,17493235,17301828,16899715,16896156,16831589,16765898,16172256,16143132,16083870,16009564,15883744,15843555,15795251,15621797,15569053,15565166,15489334,15469741,15272865,12777399,12731041,12576441,12477932,12456589,12379312,12149502,12127555,12127553,12070780,12022472,12002758,11920534,10037797,9680363,9373149,8766552,8745401,8552454,8432525,8142907,8125298 2208 NM_002002,AC008763,CH471139,M23562,S81115,AK223207,BC014108,BC027879,BC062591,BC064417,M14766,M15059,X04772 NP_001993,EAW69004,EAW69005,EAW69006,EAW69007,EAW69008,EAW69009,EAW69010,EAW69011,AAA52433,AAB35926,BAD96927,AAH14108,AAH62591,AAA52435,AAA52434,CAA28465,P06734,Q30219,ABM83161,ABW03476 Hs.465778 GDB:118888 CD23|CD23A|CLEC4J|FCE2|IGEBF fc fragment of ige, low affinity ii, receptor for (cd23a) protein-coding 1322068 FCF1 FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) 16762320,15635413,15198809,14702039,12508121,12477932,11230166,10810093 51077 NM_015962,AC007956,CH471061,AF132969,AK021636,AK057060,AK290666,BC022361,BC080600,BX248271,BX489015,BX647810,CR598081 NP_057046,EAW81187,EAW81188,EAW81189,EAW81190,EAW81191,EAW81192,EAW81193,AAD27744,BAF83355,AAH80600,CAD62599,CAJ18322,Q4FZ45,Q66K47,Q9Y324 Hs.579828,Hs.600152 Bka|C14orf111|CGI-35|MGC99629 chromosome 14 open reading frame 111 protein-coding 1350128 FCGBP Fc fragment of IgG binding protein 16740002,16341674,16335952,15203218,15084671,15057824,12208673,11600203,9182547,8889548,1984453 8857 NM_003890,AC006950,AC007842,AC011536,CH471126,BE294466,BM781647,BQ065661,BU731683,BX113070,CD617655,D84239 NP_003881,AAD15624,AAD39266,EAW56926,BAA19526,Q9Y6R7 Hs.111732,Hs.700150 GDB:6520358 FC(GAMMA)BP protein-coding 1320511 FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. 1300184,1580863 10879688,18321309,18320015,18279703,18063701,18023480,17827066,17764536,17621550,17511516,17124586,17005690,16603696,16140266,15883031,15878871,15528366,15340161,15252450,15251320,15229321,15087090,15007079,14728877,12830330,12756162,12581186,12524384,12477932,12471137,12377934,12217397,12200451,12130529,12006325,11714794,11359830,11141335,10933786,10781611,10421785,9842885,9820532,9763663,8697799,8530370,8270248,8064233,7687898,7516890,2974947,2911749,2852656,1837149,1830050,1430234,1402657,1379234,9490697,16189514 1300184 2209 NM_000566,NG_007578,AL591493,M63830,M63831,M63832,M63833,M63834,M63835,M91555,S45709,AK291451,AK291502,BC032634,BC152383,CR591922,CR608315,CR622515,DC320241,DQ786309,L03418,X14355,X14356 NP_000557,CAI12557,AAA35678,AAA58414,AAD13842,BAF84140,BAF84191,AAH32634,AAI52384,AAA36049,CAA32536,CAA32537,P12314,Q5QNW7,ABM81768,ABM84923 Hs.77424 GDB:135911 CD64|CD64A|FCRI|FLJ18345|IGFR1 fc fragment of igg, high affinity ia, receptor for (cd64) protein-coding 1349361 FCGR1B Fc fragment of IgG, high affinity Ib, receptor (CD64) 1300184 1430234,17124586,12477932,11802953,9763663,8697799,1830050,1379234 1300184 2210 NM_001004340,NM_001017986,AL357493,BC110416,L03419,L03420 NP_001004340,NP_001017986,CAI14143,CAI14144,CAI14145,AAA35825,AAA35826,Q92637,AAI56865 Hs.534956 GDB:135923 CD64|IGFRB protein-coding 1352648 FCGR1C Fc fragment of IgG, high affinity Ic, receptor (CD64) 1300184 9763663,8697799,1379234 1300184 2211 XM_001714386 XP_001714438 GDB:135940 CD64|IGFRC protein-coding 1316933 FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32) 1580863 16169188,16160618,16150646,16133986,16110781,16107886,16005880,15946259,15910853,15878871,15833371,15744239,15742161,15735807,15675264,15583733,15535834,15483014,15457442,15371685,15369725,15367919,15351857,15319871,15251320,15217834,15194692,15194589,15191947,15190804,15171001,15166534,15153543,15152814,15140146,15004265,14976391,14761117,12493400,12492589,12486608,12477932,12447772,12421634,12393699,12390315,12363051,12215902,12176802,12121275,12115187,12095061,12064825,12027254,11976734,11953994,11937562,11913983,11835346,11812402,12501257,14740869,14734773,14651519,14641546,14597109,14514134,12960360,12893767,12871511,12867584,12864991,12858454,12857726,12847687,12834496,12832410,12830330,12752683,12729187,12710759,12690104,12643213,12626795,12571856,12508778,17785206,2139735,18474295,18372357,18349392,18347005,18311806,18204446,18194515,18180796,18165525,18071035,18052703,18025239,18022136,17921137,17877745,17848620,17845308,17710620,17704420,17673295,17665457,17652100,17650444,17642530,17606457,17596285,17594928,17588661,17587350,17582430,17523948,17335370,17324336,17315188,17291475,17142741,17134755,17092257,17092253,17046568,17020818,17018637,17005690,16893392,16889631,16880255,16846526,16846215,16805673,16785568,16751395,16709925,16682723,16606986,16569263,16551965,16550341,16542359,16511922,16421008,16356189,16277670,16221721,16200626,16198451,16185324,16177087,11740730,11699473,11561111,11528518,11480843,11398118,11263776,11237133,11229467,11145038,11110978,11099670,10781611,10704522,10675363,10397151,10382761,10331870,9373149,9268059,8940017,8756631,8636449,8631888,8125298,3402431,2971615,2967437,2965389,2824655,2531919,2529342,2527651,2526077,1379234,9490697,16189514 2212 NM_021642,A21604,AL590385,AF416711,AI250177,AK225438,AK225601,AK226059,BC019931,BC020823,CR593871,CR624955,J03619,M28697,M31932,X62572,Y00644 NP_067674,CAA01563,CAI16118,CAI16119,AAL78867,AAH19931,AAH20823,AAA35932,AAA36050,AAA35827,CAA68672,P12318,Q8TEX8,Q8WUN1,Q8WW64,ABM82963,ABM86154 Hs.352642 GDB:119903 CD32|CD32A|CDw32|FCG2|FCGR2|FCGR2A1|FcGR|IGFR2|MGC23887|MGC30032 fc fragment of igg, low affinity iia, receptor for (cd32) protein-coding 1346227 FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) 1580863 11567028,2142460,11955599,2139735,18347005,18182380,17873550,17521421,17502666,17435165,17393178,17335370,17142741,17133600,17133580,17130130,17020818,16934243,16923849,16818279,12115230,11741917,11576217,11423173,11359830,11238632,11123333,10789675,10064577,9516136,9227318,8756631,8466861,7716523,7649565,3402431,2531080,2529342,2526077,9490697,16189514,16785568,16757681,16710414,16603696,16600368,16551965,16531013,16406061,16356189,16227149,16170323,16115811,16051361,15946259,15914856,15883031,15566359,15506939,15489334,15459183,15153543,15081531,15077320,14651519,14647193,14613290,12858454,12830330,12753656,12729187,12516568,12486608,12477932,12471137,12438452 2213 NM_004001,NM_001002274,NM_001002275,NM_001002273,AB060143,AB060144,AB060145,AB060146,AB060147,AB060148,AB060149,AB060150,AL451067,CH471067,EF064736,AB050934,AB051387,AB209585,M31933,M31934,M31935,U87560,U87561,H04104,M28696,U87562,U87563,U87564,U87565,U87566,U87567,U87568,U87569,U87570,U87571,AF543826,AI692546,BC031992,BC141826,BC146678,CB988406,CR407635,CR590408,CR590610,CR592864,CR593201,CR593693,CR606721,CR607206,CR608780,CR610288,CR611092,CR617159,U87572,U87573,U87574,U87575,U87576,U87577,X17653,X52473,X62573 NP_003992,NP_001002274,NP_001002275,NP_001002273,BAC54013,BAC54014,BAC54015,BAC54016,BAC54017,BAC54018,BAC54019,BAC54020,EAW90679,EAW90680,EAW90681,EAW90682,ABK41919,BAB92093,BAB92094,BAD92822,AAA36051,AAA35841,AAA35842,AAA35843,AAD00627,AAD00628,AAD00629,AAD00630,AAD00631,AAD00632,AAD00633,AAD00634,AAD00635,AAD00636,AAD00637,AAQ11739,AAH31992,AAI41827,AAI46679,CAG28563,AAD00638,AAD00639,AAD00640,AAD00641,AAD00642,AAD00643,AAD00644,CAA35644,CAA36713,P31994,Q8IU78,Q8IU79,Q8IXE8,Q8IXE9,Q8NIA0,ABM85451 Hs.654395 GDB:128183 CD32|CD32B|FCG2|FCGR2|IGFR2 protein-coding 1607080 FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) 17785206,2531080,17827395,16344560,15342556,12477932,12215903,12115230,9516136 9103 NM_001005411,AB062416,AF433951,AL451067,BP320976,DA859515,U90938,U90939,U90940,U90941,X17652,NM_001005410,NM_201563 NP_963857,NP_001005411,BAB92095,AAN14522,AAC12807,AAC12808,AAC12809,AAC12810,CAA35642,P31995,Q8IZV7,Q8NI89,ABM82270,NP_001005410 Hs.705497 CD32|CD32C|FCGR2B|FcgammaRIIC|hFcRII-C protein-coding 736450 FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a) This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1598927,1598928,1580863 2138330,11955599,18452102,18372357,18349392,18347005,16934243,16846526,16716162,16709862,16682723,16609067,16550341,16542359,16356189,16344560,16330541,16310791,16277670,16221721,16181633,16160618,16142749,16133986,16110781,15998631,15946259,15910853,15833371,16981896,18174382,18052703,18050249,17922423,17899539,17878347,17710620,17704420,17652100,17650444,17606457,17600378,17596285,17594928,17523948,17475906,17475889,17457599,17335370,17324336,17265480,17202140,17108815,18199088,15767342,15659493,15535834,15526004,15483014,15457442,15299021,15269840,15217834,15194589,15191947,15188374,15153543,15152814,15037082,14987319,14740435,14651519,14597109,14563637,14526422,12864991,12858454,12847896,12834496,12830330,12756162,12734884,12710759,12649399,12631364,12626795,12618859,12501257,12492589,12486608,12477932,12447772,12445195,12393699,12379528,12176802,12121275,12064825,12036208,12027254,11986321,11895784,11884455,11850593,11835346,11808760,11806974,11756173,11740730,11722422,11699473,11696221,11528518,11359830,11263776,11229467,11145038,11037893,11034564,11022771,9743356,9378963,9373149,9276722,9242542,8940055,8609432,8405050,8258691,8157290,8125298,7836402,7819147,7700021,7543538,7516890,2967436,2526846,2525780,2521732,2478590,2146219,2139735,16189514,11027634,10961879 1598927,1598928 2214 NM_001127592,NM_001127593,NM_001127595,NM_001127596,AB032414,AF162790,AL590385,Z46222,AK223268,AK223295,BC017865,BC033678,BC036723,BI768140,CR599546,CR604666,CR614832,CR616259,DA674960,DA933259,DA944383,DA957430,NM_000569,M24853,S76824,X52645 NP_000560,NP_001121064,NP_001121065,NP_001121067,NP_001121068,BAA86888,AAD48438,CAI16122,CAI16123,CAO03439,CAO03440,CAA86295,BAD96988,BAD97015,AAH17865,AAH33678,AAH36723,AAA53506,AAB33925,CAA36870,P08637,Q53FJ0,Q53FL6,Q5EBR4,Q5QNY1,Q65ZM6,Q6PIJ0,Q9ULV2,Q9UN20 Hs.372679,Hs.694258 GDB:119904 CD16|CD16A|FCG3|FCGR3|FCGRIII|FCR-10|FCRIII|FCRIIIA|IGFR3 fc receptor, igg, low affinity iii protein-coding 1347412 FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 1580863 17335370,16899095,16889631,16805673,16598772,16550341,16542359,16482158,16467081,16356189,16344560,16171455,16160618,16155708,16133986,16110781,15974849,15946259,15934433,15910853,15889368,15833371,15783303,15713217,15526004,15500735,15457442,15369725,15245367,15194589,15152814,14761117,14740435,14651519,14634123,14597109,12898191,12867584,12864991,12858454,12839649,12834496,12830330,12753656,12710759,12501257,2139735,18452102,18408222,18372357,18156711,18052703,17847104,17710620,17596285,17584599,17529978,17523948,12486608,12447772,12445195,12421634,12393699,12176802,12121275,12115243,12076295,12064825,12027254,11897993,11835346,11740730,11699473,11528518,11379895,11099670,11034564,11021536,10917521,9743356,9028335,8940055,7836402,2967436,2526846,2525780,2521732,11359830,15688433 2215 NM_000570,AL451067,Z46223,AB025256,AJ581669,BC128562,DA672763,J04162,M24854,X07934,X16863 NP_000561,CAA86296,BAA83803,CAE46408,AAI28563,AAA35881,AAA53507,CAA30758,CAA34753,O75015,Q9ULV2,Q9UPY7 Hs.694258 GDB:128176 CD16|CD16b|FCG3|FCGR3 protein-coding 736100 FCGRT Fc fragment of IgG, receptor, transporter, alpha 704404,1580863 7964511,17709515,17703228,17674040,17384151,17048273,16849638,16805790,16549777,16303743,16229888,15689494,15654966,15644205,15489334,15340161,15258288,14767057,14764666,14630397,12972260,12885906,12566415,12538789,12477932,12144784,12023961,12006623,11717196,11207281,10998088,10933786,9493268,9439449,8871627,8646894,17046328,8145026 2217 NM_004107,AC010619,AF200220,AF220542,AF453513,AF453514,AF453515,AF453516,AF453517,CH471177,EF064735,AK074734,AK075510,AK075532,BC008734,BC020421,BC091487,BT006828,BX647163,CR591612,CR593355,CR596557,CR596606,CR596741,CR597151,CR599170,CR599433,CR603961,CR604068,CR606505,CR609370,CR609658,CR614236,CR616651,CR617299,CR622710,CR622853,CR622938,CR625984,CR626812,CR626832,U12255 NP_004098,AAG31421,AAF72596,AAM27922,AAM27923,AAM27924,AAM27925,AAM27926,EAW52498,EAW52499,EAW52500,ABK41918,AAH08734,AAP35474,CAI46032,AAA58958,P55899,Q5HYM5,Q8N166,ABM84470,ABM84734 Hs.111903 GDB:453287 FCRN|alpha-chain fc receptor, igg, alpha chain transporter protein-coding 1317013 FCHO1 FCH domain only 1 737633 17617719,15761153,15489334,12477932,9179496 737633 23149 NM_015122,AC008761,CH471106,AB006628,AK291410,BC028021,BC041130,CR597235,CR603801,CR620485,CR625849 NP_055937,EAW84627,EAW84628,EAW84629,EAW84630,BAA22959,BAF84099,AAH28021,AAH41130,O14526 Hs.96485 KIAA0290 protein-coding 1348405 FCHO2 FCH domain only 2 737633 17540576,16964243,16381901,15489336,15489334,15372022,15254787,14702039,12477932,11230166,11076863 737633 115548 NM_138782,AC008972,AC020893,AC020942,CH471084,AK056770,AK291782,AL831971,AL832928,AL833313,BC006004,BC014311,BC137070 NP_620137,EAW95716,BAF84471,AAH06004,AAH14311,AAI37071,Q0JRZ9,CAL38169,CAL38715 Hs.165762 protein-coding 1317900 FCHSD1 FCH and double SH3 domains 1 15815621,15489334,15067381,14980202,14702039,12975309,12477932,11214971 89848 NM_033449,AC008781,AC022420,CH471062,AF086518,AK000007,AK027281,AY217346,AY358478,BC047016 NP_258260,EAW61908,EAW61909,EAW61910,BAA92232,AAO45099,AAQ88842,AAH47016,Q86WN1 Hs.591257 FLJ00007|NWK2 protein-coding 1312475 FCHSD2 FCH and double SH3 domains 2 14627983,16554811,16189514,15489334,15067381,14980202,12477932,9872452,9873 9873 NM_014824,AP002381,AP002455,AP004241,CH471076,AB018312,AK128381,AL080236,AL133567,BC010394,BC017751,BQ007622,CD358961 NP_055639,EAW74880,EAW74881,BAA34489,BAC87409,CAB63720,AAH10394,AAH17751,O94868,Q6ZRA4 Hs.577053 KIAA0769|NWK|SH3MD3 protein-coding 1351597 FCN1 ficolin (collagen/fibrinogen domain containing) 1 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. 1580863 8576206,18032536,17938215,17928056,17148457,16305643,15489334,15340161,15117939,12624729,12477932,10679061,9777405,9202708,8947836,8884275,7686157,8573080 2219 NM_002003,AL353611,CH471090,D63394,BC020635,CR615246,CR749452,D83920,S80990 NP_001994,CAH73911,EAW88137,EAW88138,EAW88139,EAW88140,BAA09707,AAH20635,CAH18289,BAA12120,AAB50706,O00602,Q5VYV5,Q68DD1,Q92531,ABM82352,ABM85362 Hs.440898 GDB:1386727 FCNM protein-coding 1350900 FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 8576206,18032536,17680820,17386030,17382393,17215869,16839748,16820685,16076493,15331601,14707097,14702039,14660572,12477932,12421953,11446374,10232391,9777405,9202708,8884275,7498469 2220 NM_004108,NM_015837,AL603650,CH471090,D63160,DQ217935,AI052239,AK096112,AK290843,BC069572,BC069825,BC113935,D49353 NP_004099,NP_056652,CAI39861,EAW88133,EAW88134,EAW88135,EAW88136,BAA09636,ABB01005,BAF83532,AAH69572,AAH69825,AAI13936,BAA08352,Q14CE6,Q15485,Q3B834 Hs.54517 GDB:1386730 EBP-37|FCNL|P35|ficolin-2 protein-coding 1348305 FCN3 ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. 1580863 16303743,15489334,15340161,14702039,12975309,12624729,12477932,12367778,11907111,10330454,2276712,1859827,9694814,14718574,18261799,18032536,17469142,17303612,17215869,16641997,16335952 8547 NM_173452,NM_003665,AL663123,AY756173,CH471059,CQ783202,AK075140,AY358081,AY358283,BC020731,CR456808,CR604997 NP_775628,NP_003656,CAI14774,CAI14775,CAI14776,AAU85296,EAX07756,EAX07757,CAF86408,BAC11429,AAQ88448,AAQ88650,AAH20731,CAG33089,O75636,Q5SSB9,Q6UXM4,Q6UY50,ABM82954,ABM86146 Hs.333383 GDB:11500484 FCNH|HAKA1|MGC22543 protein-coding 1343825 FCP1 F-cell production 1 2461753 2221 GDB:347490 1602077 FCRL1 Fc receptor-like 1 17273841,15479727,14702039,12477932,12037601,11929751,11493702 115350 NM_052938,AL139409,AL356276,CH471121,EF064734,AF329488,AF459634,AK096690,AL833674,AL833970,AY043464,BC021274,BC033690 NP_443170,CAH70232,CAH70233,CAH70234,CAH73052,CAH73053,CAH73054,EAW52860,EAW52861,EAW52862,EAW52863,ABK41917,AAL23898,AAL60250,BAC04842,CAD38815,AAK91777,AAH33690,Q96LA6 Hs.656112 DKFZp667O1421|FCRH1|IFGP1|IRTA5|RP11-367J7.7 protein-coding 1323109 FCRL2 Fc receptor-like 2 11162587,17273841,16710414,15489334,15340161,12975309,12477932,12037601,11929751,11493702 79368 NM_138738,AL356276,CH471121,AL833194,AY043465,AY358130,BC069185,BC129836,AF319438,AF319439,AF319440,AF390037,AF459633,NM_030764 NP_110391,NP_620075,CAH73060,CAH73061,CAH73062,CAH73063,EAW52864,EAW52865,EAW52866,AAL60249,AAK91778,AAQ88497,AAH69185,AAI29837,Q96LA5,EAW52867,EAW52868,EAW52869,AAK01402,AAK01403,AAK01404,AAM12152 Hs.437393 GDB:11504445 FCRH2|IFGP4|IRTA4|SPAP1|SPAP1A|SPAP1B|SPAP1C sh2 domain containing phosphatase anchor protein 1 protein-coding 1604549 FCRL3 Fc receptor-like 3 This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. 17389014,17273841,17200162,17179172,17154080,17133581,17133579,17117947,17020818,16911635,16859508,16519819,16476711,16384851,16176992,15838509,14702039,12477932,12051764,12014205,11929751,11493702,18313765,18087673,18065500,17961971,17868046,17763442,17617473 115352 AL356276,CH471121,AF416901,AF416902,AF416903,AF416904,AF416905,AF459027,AK098122,AK125622,AL833391,AY043466,BC013698,NM_052939,BC028933,BX496349,CD690165 NP_443171,CAH73055,CAH73056,CAH73058,EAW52870,EAW52871,EAW52872,EAW52873,EAW52874,EAW52875,EAW52876,EAW52877,EAW52878,EAW52879,EAW52880,EAW52881,AAL13290,AAL13291,AAL13292,AAL13293,AAL13294,AAL59390,AAK91779,AAH28933,Q96P31,ABM83385,ABM86598 Hs.292449 FCRH3|IFGP3|IRTA3|SPAP2 protein-coding 1603196 FCRL4 Fc receptor-like 4 17273841,16157685,16079106,12881317,12037601,11929751,11493702,11290337 83417 NM_031282,AL135929,CH471121,EF064731,AF329490,AF329492,AF343659,AF343660,AF343661,AF397452,BC125173,BC125174 NP_112572,CAI22862,EAW52882,EAW52883,ABK41914,AAL23900,AAL23902,AAK31322,AAK31323,AAK31324,AAK93970,AAI25174,AAI25175,Q96PJ5 Hs.120260 FCRH4|IGFP2|IRTA1|MGC150522|MGC150523|dJ801G22.1 protein-coding 1606497 FCRL5 Fc receptor-like 5 17273841,16710414,16681430,16439682,15671532,15489334,12975309,12477932,11929751,11493702,11453668,11290337,11027651 83416 NM_031281,AL135929,AL353899,CH471121,AF343662,AF343663,AF343664,AF343665,AF369794,AF397453,AK090423,AK090475,AL832301,AL834187,AY358085,BC101066,BC101067,BC101068,BC101069,BE676280 NP_112571,EAW52884,EAW52885,EAW52886,AAK31325,AAK31326,AAK31327,AAK31328,AAK50059,AAK93971,BAC03404,BAC03456,CAH56486,AAQ88452,AAI01067,AAI01068,AAI01070,Q495Q3,Q8NF07,Q8NF56,Q96RD9 Hs.415950,Hs.708420 BXMAS1|CD307|DKFZp667E2019|DKFZp667F216|FCRH5|FLJ00333|FLJ00397|IRTA2|MGC119590|MGC119592|MGC119593|PRO820|RP11-217A12.1 protein-coding 1606397 FCRL6 Fc receptor-like 6 17273841,17213291,16710414,16344560,14702039 343413 NM_001004310,AL590560,AI631310,AK131201,AY212514,AY513661,AY654627,AY654628,DA959587 NP_001004310,CAH71102,CAM14070,CAM14071,CAM14072,BAD18394,AAP47270,AAS82876,AAT66024,AAT66025,Q6DN72 Hs.196955 FLJ16056|FcRH6 protein-coding 1606206 FCRLA Fc receptor-like A Receptors for the Fc fragment of IgG, or FCGRs (see MIM 146790), are cell surface glycoproteins of the Ig superfamily (IgSF). These receptors mediate phagocytosis of IgG-coated pathogens and promote activation of effector cells, leading to inflammatory responses and antibody-mediated cellular cytotoxicity. All FCGR genes map to human chromosome 1. Additional genes in this region, including FREB, encode FCGR homologs that are selectively expressed in B cells and may be implicated in B-cell development and lymphomagenesis.[supplied by OMIM] 12202404,11891275,11754007,17273841,16710414,15551350,15489334,15340161,12975309,12966588,12477932 84824 AL359541,CH471067,EF064729,AF329489,AF329491,AF329493,AF329494,AF329495,AF390036,AF426461,AF531423,AY091642,AY358348,BC006521,BM471887,NM_032738,BX112608,BX649184,CR592613,CR612235 NP_116127,CAH74156,CAH74157,CAH74158,CAH74159,CAH74160,CAH74161,CAH74162,EAW90683,EAW90684,EAW90685,EAW90686,EAW90687,EAW90688,EAW90689,ABK41912,AAL23899,AAL23901,AAL23903,AAL23904,AAL23905,AAL27307,AAL58111,AAM97591,AAM13980,AAQ88714,AAH06521,CAE46202,Q5VXA4,Q5VXA5,Q5VXB1,Q6MZF2,Q7L513,ABM84200,ABM87604 Hs.266331 FCRL|FCRL1|FCRLM1|FCRLX|FCRLb|FCRLc1|FCRLc2|FCRLd|FCRLe|FCRX|FREB|MGC4595|RP11-474I16.5 protein-coding 1605583 FCRLB Fc receptor-like B FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM] 17273841,16263223,15815692,15676285,14702039,12477932 127943 AL359541,CH471067,EF064728,AK055614,AK290733,AY670683,AY670684,AY670685,AY670686,AY670687,AY786314,BC038564,BC067080,NM_001002901,DQ021957 NP_001002901,CAH74155,EAW90690,EAW90691,ABK41911,BAB70971,BAF83422,AAT77987,AAT77988,AAT77989,AAT77990,AAT77991,AAX11390,AAH38564,AAH67080,AAY42534,Q5VXA7,Q6BAA4,Q6NXH0,Q96DP6 Hs.517422 FCRL2|FCRLM2|FCRLY|FREB-2|FcRY|RP11-474I16.6 protein-coding 731891 FDFT1 farnesyl-diphosphate farnesyltransferase 1 This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. 1580863,1300048,1626611 17805225,17483544,16684881,15489334,14702039,12477932,10896663,8294001,8020937,7864626,7685352,7665618,16189514,17353931,8474436,18350552 1626611 2222 AC069185,AF051647,AF051660,CH471157,AI679762,AK057726,AK098682,BC003573,BC009251,BC029641,BC034440,BT006704,CR457033,CR590560,CR592418,CR595075,CR595860,CR596943,CR598732,CR601044,CR601829,CR602204,CR602308,CR602602,CR602686,CR603264,CR604624,CR605887,CR610548,CR610871,CR613379,NM_004462,CR614222,CR617288,CR617633,CR617638,CR618448,CR621292,CR622798,CR626247,L06070,L06105,S76822,X69141 NP_004453,EAW65628,EAW65629,AAH03573,AAH09251,AAH29641,AAP35350,CAG33314,AAA60582,AAA36645,AAB33404,CAA48896,P37268,Q6IAX1,ABM81623,ABM84808 Hs.593928 GDB:203902 DGPT|ERG9|SQS|SS farnesyl diphosphate farnesyl transferase 1 protein-coding 69022 FDPS farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase) The isoprene biosynthetic pathway provides the cell with cholesterol, ubiquinone, dolichol, and other nonsterol metabolites. Farnesylpyrophosphate synthetase (EC 2.5.1.10) catalyzes the formation of both geranyl and farnesylpyrophosphate from isopentenylpyrophosphate and dimethylallyl pyrophosphate.[supplied by OMIM] 1580863,1300048 2690933,17387528,17368768,17198737,16713569,15713990,14702039,12477932,12020352,11773414,8188698,7584026,2018485,1968462,16189514 2224 AL139410,CH471121,AK021828,AK022841,AK291084,BC010004,BC015653,CR590457,CR596980,CR598280,CR599124,CR625993,D14697,J05262,NM_002004,M29863 NP_001995,CAI12715,EAW53075,EAW53076,EAW53077,EAW53078,BAF83773,AAH10004,BAA03523,AAA52423,AAA35820,P14324,Q96G29,ABM84397,ABM86869 Hs.335918 GDB:128629 FPS farensyl diphosphate synthase protein-coding 1606652 FDPSL1 farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate synthetase-like 1, cholesterol-repressible protein 39A) 2613235 343332 NG_005667,AL357559 GDB:119918 CHR39A|FPSL1 pseudo 1602263 FDPSL2 farnesyl diphosphate synthase-like 2 (farnesyl pyrophosphate synthetase-like 2) 9847074,2613235 392063 NG_005796,AC114737 GDB:119919 FPSL2 pseudo 1350506 FDPSL3 farnesyl diphosphate synthase-like 3 (farnesyl pyrophosphate synthetase-like 3) 2613235 2227 NG_005795,AL160471 GDB:119920 FPSL3 pseudo 1347692 FDPSL4 farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate synthetase-like 4) 2613235 2228 NG_007445,AC090514 GDB:119921 CHR39B|FPSL4 pseudo 1345163 FDPSL5 farnesyl diphosphate synthase-like 5 (farnesyl pyrophosphate synthetase-like 5) 2613235 2229 NG_007446,AL022163 GDB:119922 CHR39C|FPSL5 pseudo 1353374 FDPSP farnesyl diphosphate synthase pseudogene 10830953 54051 NG_000923,AP001254,AP001678 GDB:10796328 pseudo 1347130 FDX1 ferredoxin 1 The product of this gene is a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to a terminal cytochrome P450. This particular oxidation/reduction system is found in steroidogenic tissues, and is involved with the synthesis of bile acid and vitamin D. In addition to the expressed gene at this chromosomal locus (11q22), there are pseudogenes located on chromosomes 20 and 21. This gene product has been identified in a number of different tissues but all forms have been shown to be identical and are not tissue specific. 1580863 1863359,2969697,17188650,15927889,15489334,12782149,12699818,12477932,11993992,10899784,9890963,6270113,3872685,3343244,3339111,3229285,2340092,1917982,1909889,1429635 2230 NM_004109,AP000924,CH471065,M23665,M23668,M34785,M34786,AB096243,BC010284,BC017063,BQ650029,BT006681,CR598979,CR607314,CR611214,CR620794,CR626036,J03548,M18003,M34788 NP_004100,EAW67132,AAA50462,AAA35855,AAA35856,AAH10284,AAH17063,AAP35327,AAA96806,AAA76853,AAA35829,P10109 Hs.744 GDB:119657 ADX|FDX|LOH11CR1D protein-coding 1604250 FDX1L ferredoxin 1-like 16344560,14702039,12477932 112812 NM_001031734,AC011511,AW245043,BC010155,BC063460,DA243025 NP_001026904,AAH63460,Q6P4F2,Q8N8B8,Q96FY0 Hs.654865 MGC19604|MGC74760 protein-coding 1352788 FDX2 ferredoxin 2 2340092 2143 GDB:128254 1348201 FDXP1 ferredoxin pseudogene 1 2969697,2340092 2231 NG_001117,AL109923,M34787 GDB:119658 ADXP1 pseudo 1344913 FDXP2 ferredoxin pseudogene 2 10830953,2340092 2216 NG_001116,AP000225,M34789 GDB:128220 pseudo 734233 FDXR ferredoxin reductase This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants of this gene have been described although the full-length nature of only two that encode different isoforms have been determined. 1580863 12787114,12782149,12477932,12370809,12137805,11096094,11053423,9373149,8125298,2969697,2790061,2748461,2393675,2236061,1917982,14702039,2845396,1863359,16344560,15489334 2232 NM_004110,BT006684,CR590842,CR594512,CR613827,CR615445,CR616367,CR619324,CR622927,DA267443,J03826,NM_024417,AC068874,CH471099,DQ085780,M58508,M58509,AK094120,AK098648,AK223530,BC002960,BC011521,BC018911,BC034763,BC063493 AAP35330,AAB59497,AAB59498,P22570,Q6GSK2,NP_004101,NP_077728,EAW89205,EAW89206,EAW89207,EAW89208,EAW89209,AAY68215,AAA51668,AAA51669,BAD97250,AAH02960,AAH63493 Hs.69745 GDB:119659 ADXR protein-coding 1342731 FEB1 febrile convulsions 1 8730286 2233 GDB:9787383 1353249 FEB2 febrile convulsions 2 9384604 2234 GDB:9787381 1350811 FEB3 febrile convulsions 3 10514109 27066 GDB:10795893 1347424 FEB4 febrile convulsions 4 10587582 GDB:10795383 1316819 FECH ferrochelatase (protoporphyria) Ferrochelatase is localized to the mitochondrion where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Defects in ferrochelatase are associated with protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. 1598932,1580863,1578396 2260980,1729699,1376018,18160121,17875872,17875605,17723290,17597821,17567154,17566985,17261801,17196862,16844398,16819399,16385445,15850836,15831704,15574461,15489334,15286165,15123683,15046047,14702039,14669009,12601550,12480705,12477932,12139757,12081474,12063482,11929053,11929052,11375302,11175906,10942404,9740232,9712849,9649563,9585598,9373149,9211198,8973195,8757534,8500787,8481408,8276824,8125298,7983009,7910885,7629135,3940245,3047929,2340297,1838349,1755842,1184741,180343 1598932 2235 NM_001012515,NM_000140,AC100847,AF495859,AF495860,AJ250235,CH471096,L36178,AK092416,AK223190,AK292937,BC039841,BG772545,BT019958,BT019959,BX571744,CR605426,CR623385,D00726 NP_001012533,NP_000131,AAM18070,AAM18071,CAB65962,EAW63046,EAW63047,AAA64787,BAC03882,BAD96910,BAF85626,AAH39841,AAV38761,AAV38762,CAE11869,BAA00628,P22830,Q53FU1,Q5TZY0,Q7KZA3,Q8NAN0,Q8TD50 Hs.465221 GDB:127282 EPP|FCE protein-coding 1342832 FECHP ferrochelatase pseudogene 8034322 2236 NG_001118,AC092054,X69299 GDB:351050 pseudo 1353975 FEM1A fem-1 homolog a (C. elegans) 16390781,16254458,12477932,11733146,11559703,11441184,9828124 55527 NM_018708,AC005523,AJ311359,AK074232,AK126532,AL359589,AL365408,AY356352,BC004988,CR590695,CR624347,CR749732 NP_061178,CAC85342,CAB94875,CAB96952,AAR10439,AAH04988,CAH18491,Q9BSK4,ABZ92346 Hs.515082 GDB:11510780 DKFZp762M136|EPRAP fem-1 homolog a (c.elegans) protein-coding 1312083 FEM1B fem-1 homolog b (C. elegans) 1580863 10542291,10623617,15601820,12477932,12421765,10764728,9455477 10116 NM_015322,AC021553,AC107871,CH471082,AB007856,AF178632,AF204883,AK098620,AK290167,AL833264,BC010122,BC014558,CR612333 NP_056137,EAW77818,EAW77819,BAA23692,AAF05314,AAF69303,BAF82856,AAH10122,AAH14558,Q9UK73,ABW03902 Hs.699916 GDB:9955257 DKFZp451E0710|FIAA protein-coding 1319607 FEM1C fem-1 homolog c (C. elegans) 14527725,12477932,11733146,11347906 56929 BC028369,BC098385,W07603,NM_020177,AC008628,AC010226,CH471086,AB058688,AF391093,AK025265,AL050087,AL110246,AL365409,AL365415,AL831817,AY249188 AAH28369,Q96JP0,ABM84509,ABM85720,NP_064562,EAW48963,BAB47414,AAL37627,BAB15096,CAB96953,CAB96957,CAD38531,AAO64429 Hs.47367 GDB:11510782 EUROIMAGE686608|EUROIMAGE783647|FEM1A|KIAA1785 fem-1 homolog c (c.elegans) protein-coding 1347982 FEM1DP fem-1 homolog d (C.elegans) pseudogene 378813 732679 FEN1 flap structure-specific endonuclease 1 The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. 737746,1580863 7961795,8621570,11986308,8007985,8131753,9305916,11430825,15504738,18417526,18097100,17488975,17176113,16914748,16582103,16554811,16216273,16169070,15758026,15635413,15616578,15592449,15579905,15561706,15556996,15489334,15131255,15037610,14690413,14688284,14657243,14562054,12917330,12856420,12853968,12683998,12554738,12515398,12494477,12477932,12453426,12427278,12411510,12356323,12200445,12065902,11948189,11601988,11598021,11260214,10635332,10559261,10545607,10460157,9778254,9545252,9445487,9214649,8876181,7774922,7673186,1477073,16189514,9178907,9705499,12171929 737746 2237 AAB32522 AC004770,AF523117,AP002380,CH471076,U73629,BC000323,BT019524,CR536562,CR591287,CR597752,CR612026,CR613507,CR618866,CR625107,CR626174,CR626555,L37374,X76771,NM_004111 NP_004102,AAC23394,AAM74238,EAW73972,AAH00323,AAV38331,CAG38799,AAA91331,CAA54166,AAB32522,P39748,Q6FHX6 Hs.409065 GDB:451178 FEN-1|MF1|RAD2 protein-coding 1354439 FENL1 flap endonuclease-like 1 7774922 2238 GDB:553283 1350285 FEOM1 fibrosis of the extraocular muscles, congenital, 1 8075644 2240 GDB:345037 1345858 FEOM3 fibrosis of extraocular muscles, congenital, 3 10393037 26176 GDB:10795384 1314798 FER fer (fps/fes related) tyrosine kinase Fer protein is a member of the FPS/FES family of nontransmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. 1580863 7623846,3472906,3350007,2725517,2685575,2156206,1990274,1663488,1651563,2209086,17192257,16732323,15324660,14517306,12871378,12738762,12640114,12477932,12118379,11994747,11006284,10998246,10921917,10878010,10411641,9748248,9742951,9742093,9722593,8247543 2241 NM_005246,AC008871,AC008955,AC010228,AC011421,AC034207,AC109481,AC116428,CH471086,BC017060,BC058030,CR612158,J03358 NP_005237,EAW49054,EAW49055,EAW49056,AAH17060,AAH58030,AAA61190,P16591,Q05DA5,Q6PEJ9,AAI41560 Hs.221472 GDB:125243 TYK3 protein-coding 1343142 FER1L3 fer-1-like 3, myoferlin (C. elegans) Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length natures have not been determined. 1580863 10607832,17702744,17081983,15489334,15302935,15164054,14702039,12477932,12168954,11790298,10995573,10574462 26509 NM_133337,NM_013451,AL360229,AL365364,CH471066,AB033033,AF182316,AF207990,AK075258,AK093890,AL096713,BC014612,BC033616,BC040110,BC052617 NP_579899,NP_038479,CAH72370,CAH72371,CAH72372,CAH72373,CAI41206,CAI41207,CAI41208,EAW50073,EAW50074,EAW50075,EAW50076,BAA86521,AAF27176,AAG23737,CAB46370,AAH40110,AAH52617,Q9NZM1 Hs.655278 GDB:9989905 FLJ36571|FLJ90777|MYOF protein-coding 1350956 FER1L4 fer-1-like 4 (C. elegans) 14702039,10192385,9175703 80307 XM_001732893,XM_001732892,XM_001732894,AL109827,AL121586,AL389875,CH471077,AF218012,AF218030,AK023521,AK026266,AL833764,AY461812,CR601296 XP_001732945,XP_001732944,XP_001732946,CAI20117,CAI15745,CAO03392,EAW76196,AAS19932 Hs.72222 GDB:11506020 C20orf124|FLJ13459|FLJ22613|bA563A22B.1|dJ309K20.1 protein-coding 1625097 FER1L5 fer-1-like 5 (C. elegans) 12477932,11181995 90342 NM_001077400,NM_001113382,AC068539,AC079754,CH471207,AK126032,AL133022,AY461813,BC117324,BC126368 NP_001070868,NP_001106853,EAW71345,EAW71346,BAC86403,AAS19933,AAI17325,AAI26369,A0AVI2 Hs.534025 protein-coding 1625099 FER1L6 fer-1-like 6 (C. elegans) 654463 NM_001039112,AC011134,AC090753,AC100871,AB196633,DV080599,DW010047 NP_001034201,BAE53435,Q2WGJ9 Hs.632058 C8ORFK23 protein-coding 1323462 FERD3L Fer3-like (Drosophila) 12690205,12477932,12217327,11472856 222894 NM_152898,AC003986,AF369897,CH236948,CH471073,AF517122,BC069147,BC101135,BC101136,BC101137,BC101138 NP_690862,AAK72956,EAL24278,EAW93712,EAW93713,AAN04086,AAH69147,AAI01136,AAI01137,AAI01138,AAI01139,Q96RJ6 Hs.592168 MGC119861|N-TWIST|NATO3|NTWIST protein-coding 1315645 FERMT1 fermitin family homolog 1 (Drosophila) 1600405 12697302,12668616,12477932,9472028,9373149,8125298,17989907,17916195,17460733,17178989,17012746,16675959,16051467,15927810,14962093,14702039,14634021,12789646 1600405 55612 NM_017671,AL118505,CH471133,AB105105,AF443278,AK000123,AK000747,AK025365,AK027076,AK092195,AK225216,AY137240,BC035882,BC040545,BX647465 NP_060141,CAC03433,CAI42167,EAX10392,EAX10393,EAX10394,EAX10395,BAD12269,AAN75822,BAA90957,BAA91358,BAC03826,AAM94174,AAH35882,AAH40545,Q49AC8,Q54A15,Q5JWV4,Q5JWV5,Q9BQL6 Hs.472054 GDB:11504989 C20orf42|DTGCU2|FLJ20116|FLJ23423|KIND1|UNC112A|URP1 chromosome 20 open reading frame 42 protein-coding 1323441 FERMT2 fermitin family homolog 2 (Drosophila) 17081983,15489334,14745725,14702039,12789646,12697302,12679033,12508121,12477932,8175911,16189514 10979 NM_006832,AL139317,AL352979,CH471061,AF443279,AK091532,AK126426,AK291738,BC011125,BC017327,BX161467,CR624174,Z24725 NP_006823,EAW80618,EAW80619,EAW80620,AAN75823,BAF84427,AAH17327,CAD61925,CAA80852,Q96AC1 Hs.509343 FLJ34213|FLJ44462|KIND2|MIG2|PLEKHC1|UNC112|UNC112B|mig-2 protein-coding 1602673 FERMT3 fermitin family homolog 3 (Drosophila) 15231747,18280249,15489334,14702039,12886250,12789646,12697302,12477932 83706 NM_178443,NM_031471,AP005668,CH471076,AK093719,AY093951,AY093952,BC004347,BC013366,BC015584,CR613949,CR621529,L25343 NP_848537,NP_113659,EAW74199,EAW74200,BAC04220,AAM19736,AAM19737,AAH04347,AAH13366,AAH15584,Q86UX7 Hs.180535 KIND3|MGC10966|MIG-2|MIG2B|UNC112C|URP2|URP2SF protein-coding 1605153 FERP fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) pseudogene 553112 NG_005390,AL030996 FERps pseudo 1319652 FES feline sarcoma oncogene This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis. A truncated transcript has been identified that is generated utilizing a start site in one of the far downstream exons but a protein product associated with this transcript has not been identified. 1580863 8007965,7700650,7691175,7529874,7523858,7518439,6323103,4065096,3947550,3488499,2426571,2179816,1870997,1862005,1373879,17353931,10706130,16189514,6264598,6183005,18046454,17595334,17521372,16792528,16455651,15929003,15869325,15713745,15630569,15489334,15485904,15099290,15003822,12871378,12653561,12543931,12477932,12093729,11994747,11700021,11339827,11160325,11071635,10856136,9754447,9714332,8999909,8955135,8916957,8663427,8631962,8449035,8108116 2242 AY513657,BC035357,CR593957,CR622908,CR624741,M14209,X52192,NM_002005,AC124248,CH471101,DQ048387,M14589,X06292,AY513654,AY513655,AY513656 Q4JFK8,ABM82276,ABM85456,AAS82869,AAH35357,AAA52441,CAA36438,P07332,Q2VXS7,Q2VXS8,Q2VXS9,Q2VXT0,NP_001996,EAX02113,EAX02114,EAX02115,EAX02116,AAA53105,CAA29619,AAS82866,AAS82867,AAS82868,Q4JFK7 Hs.7636 GDB:119906 FPS protein-coding 1348659 FETUB fetuin B The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. 68778,1580863 16797392,16335952,15499407,15489334,15280384,12943536,12477932,10947975,8889549,1284814 68778 26998 NM_014375,AC068631,CH471052,AB017551,AF534529,AJ242928,AY373820,AY373821,BC069670,BC069820,BC074734,BC114616,BX115543,CR603548 NP_055190,EAW78185,EAW78186,BAA78341,AAQ10515,CAB62538,AAR22507,AAR22508,AAH69670,AAH69820,AAH74734,AAI14617,Q5J875,Q5J876,Q9UGM5 Hs.81073 GDB:10796330 16G2|Gugu|IRL685 protein-coding 1351543 FEV FEV (ETS oncogene family) This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. 1580863 9121764,17597646,15758173,15003288,12761502,12477932,10949935 54738 NM_017521,AC097468,CH471063,BC023511,Y08976 NP_059991,AAX88917,EAW70664,AAH23511,CAA70169,Q99581,ABM84328,ABM87783 Hs.234759 HSRNAFEV|PET-1 protein-coding 732377 FEZ1 fasciculation and elongation protein zeta 1 (zygin I) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. 704404,1580863 14690447,15383276,16169070,9096408,17374448,17200414,16484223,15843383,15522253,15489334,15466860,12874605,12477932,11856312,9971736 9638 NM_005103,NM_022549,BC009545,CR456817,CR541954,CR593895,CR596282,CR602876,CR606763,CR609364,CR614380,CR615559,CR619971,U60060,U60062,U69139,AP000708,CH471065 NP_072043,NP_005094,EAW67637,EAW67638,EAW67639,AAH09545,CAG33098,CAG46752,AAC51282,AAC51284,AAB40660,Q99689,ABM81889,ABM85061,EAW67636 Hs.224008 GDB:9958796 protein kinase c-binding protein zeta1 protein-coding 735511 FEZ2 fasciculation and elongation protein zeta 2 (zygin II) This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. 1580863 14690447,9096408,16484223,15815621,14697253,12477932,10931946,10642437,8228263 9637 BC047020,BC054043,BC064484,BC089390,BC110386,BX537785,CR589976,CR591023,CR594110,CR606546,CR608599,CR618629,CR620406,L17328,U60061,U69140,AB209719,NM_001042548,NM_005102,AC007401,AF168681,CH471053,AB076184,AF113124,AK025274,AL117593,BC018032,BC037566 AAH54043,AAH64484,AAH89390,AAI10387,CAD97842,AAB02341,AAC51283,AAB40661,Q0D2I6,Q3ZCX5,Q59EU2,Q5EBN3,Q6P2J5,Q7Z5U3,Q7Z674,Q9UHY8,BAD92956,NP_005093,NP_001036013,AAY14650,EAX00420,EAX00421,EAX00422,EAX00423,EAX00424,EAX00425,BAD06207,AAF14865,AAH18032 Hs.258563 GDB:9957855 HUM3CL|MGC117372 protein-coding 1604689 FEZF1 FEZ family zinc finger 1 12477932 389549 NM_001024613,AC015983,CH236947,CH471070,AY726588,BC127714,BC127715 NP_001019784,EAL24342,EAW83568,AAI27715,AAI27716,A0PJY2 Hs.553970 ZNF312B protein-coding 1346685 FEZF2 FEZ family zinc finger 2 1580863 16344560,14702039,12477932,11025224,9921901,8889548 55079 NM_018008,AC092502,CH471055,AF064845,AF332890,AK001004,AK290464,BC022464,BM930804,DA492936,DR002892,H28929 NP_060478,EAW65403,EAW65404,AAG50287,BAA91464,BAF83153,AAH22464,Q8TBJ5 Hs.241523 GDB:11508629 FEZ|FEZL|FKSG36|FLJ10142|TOF|ZFP312|ZNF312 protein-coding 736481 FFAR1 free fatty acid receptor 1 1580863 9344866,17525159,12496284,12477932,17200419,16525841,16289108,15736105,15695516,15684720,15489334,12629551,12565875 2864 NM_005303,AF024687,BC095536,BC120943,BC120944,EF611308 NP_005294,AAB86710,AAH95536,AAI20944,AAI20945,ABQ96386,O14842,Q0IJ71 Hs.248127 GDB:7087526 FFA1R|GPCR40|GPR40|gpr40 g protein-coupled receptor 40 protein-coding 1347517 FFAR2 free fatty acid receptor 2 1580863 12496283,12477932,12393494,9344866,16887331,15684720,15489334,15057824,12711604,12684041 2867 NM_005306,AC002511,AF024690,CS173025,EU432114,BC095535,BC096198,BC096199,BC096200,BC096201 NP_005297,AAB67886,AAB86713,CAJ33694,ABY87913,AAH95535,AAH96198,AAH96199,AAH96200,AAH96201,O15552 Hs.248056 GDB:7087529 FFA2R|GPR43|gpr43 g protein-coupled receptor 43 protein-coding 1322276 FFAR3 free fatty acid receptor 3 1580863 9344866,16887331,15684720,15489334,14722361,12711604,12496283,12477932,8496602,1985119 2865 NM_005304,AC002511,AF024688,U62631,AK290710,BC035657,BC113695,BC148269,EU432115 NP_005295,AAB86711,BAF83399,AAH35657,AAI13696,AAI48270,ABY87914,O14843,ABM82161,ABM85345 Hs.248055 GDB:7087527 FFA3R|GPR41 g protein-coupled receptor 41 protein-coding 737209 FGA fibrinogen alpha chain The protein encoded by this gene is the alpha component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in two isoforms which vary in the carboxy-terminus. 1582445,704404,1601166,1601167 8939956,8675656,8639778,8636415,8589203,8473507,8461606,8400261,8384496,8140431,8097946,7298640,6719396,6689067,6688355,6575700,6575389,6500566,6383194,6318767,6266066,6165239,5645286,4250289,4084461,4052020,3618591,3590111,3345340,3088041,2877981,2738154,2367530,2133234,2133223,2102623,2070049,1912564,1680863,1675636,1634621,1587268,1391954,936108,632262,518846,518845,1560020,1457396,2742826,5084810,7356959,10605720,14718574,10467729,18331453,18278190,18227259,18208536,18202324,18057060,17994314,17982313,17849175,17849064,17701467,17688324,17650077,17630702,17596138,17591786,17568659,17565234,17433418,17414213,17408725,17408411,17303222,17295221,17275949,17264959,17263791,17241179,16940416,16939214,16894470,16881935,16807684,16706972,16698114,16614319,16525568,16468976,16466010,16362348,16335952,16324093,16263253,16210568,16144795,16086292,15968394,15865460,15831156,15795809,15795540,15735812,15637140,15346842,15311936,15217804,15203218,15166913,14751930,14746139,14667819,14615374,12871600,12729597,12707238,12665801,12617173,12477932,12430881,12406899,12358944,12356313,12193970,12119191,12117709,12050338,12009908,11914657,11900554,11858505,11833854,11776317,11739173,11583334,11562340,11546832,11460506,11460491,11435303,11170397,11159525,11054085,10963790,10956659,10913112,10891444,10602365,10391209,10074346,9867861,9689040,9628725,9485375,9389696,9333233,9276466,8944230 1582445,1601166,1601167 2243 NM_000508,NM_021871,AB087996,AC107385,AF361104,CH471056,M64982,S82092,AK290559,AL579998,BC020764,BC070246,BC098280,BC099706,BC099720,BC101935,BC105803,BG565064,BQ064506,BX494953,CB122305,CD608675,CR594140,CR608055,CR608485,CR613050,CR613778,CR617717,CR618112,CR619844,CR625737,J00127,J00128,K02272,M26878,M58569,AL531808 NP_000499,NP_068657,BAC55116,AAK31372,AAK31373,EAX04924,EAX04925,EAX04926,EAX04927,EAX04928,AAA17055,AAA17056,AAB47117,BAF83248,AAH20764,AAH70246,AAH98280,AAH99706,AAH99720,AAI01936,AAI05804,AAA52426,AAA52427,AAA52428,AAA52444,P02671,Q3KRA7,Q4QQH7,Q6NSD8,Q86Z09,Q8WW76,AAC97142,AAC97143 Hs.351593 GDB:119129 Fib2|MGC119422|MGC119423|MGC119425 fibrinogen, alpha polypeptide protein-coding 734251 FGB fibrinogen beta chain The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. 1580381,1580382,1580383,1580384,1580385,737709,1331525,1580863 2742826,5084810,7356959,10605720,14718574,6688356,18434720,18334738,18331453,18284606,18278190,18253477,18202324,18188987,18173921,18057060,18000621,17994314,17925485,17849064,17688324,17637253,17591786,17582472,17497226,17469143,17414213,17264952,17263791,17230042,17160939,17126309,17116333,17115186,17111197,17003923,16953282,16940416,16938111,16899909,16776623,16767673,16750002,16706972,16697386,16635210,16614319,16604498,16601848,16567932,16525569,16525568,16489740,16466010,16443328,16420563,16409729,16353042,16335952,16324093,16263699,16215953,16195396,16157382,16144795,16086292,16080811,16049588,15983960,15968394,15939070,15857159,15842357,15795540,15795538,15737987,15735812,15735811,15709716,15671034,15631828,15608011,15583729,15575509,15489334,15346842,15300640,16611940,15217804,15213870,15192836,15170397,12082592,12082590,12048138,11940334,11877019,11858186,11836675,11833854,11798781,11728146,11714857,11634610,11588042,11546832,11468164,11460528,11460506,11296154,11293402,11054085,11027931,10980194,10766195,10666208,10467729,10391209,10074346,9787167,9628725,9333233,9224210,9028318,8979138,8910396,8889549,8666148,8384496,8148485,7642629,7592883,7583541,6575700,6575689,6575389,6383194,6165239,3194892,3156856,3029722,2572363,2322576,2102623,2018836,1680863,1634610,1565641,936108,891553,420779,156564,15723073,15091001,15076187,14963283,14746139,14706682,14691567,14669221,14652632,14629469,14629463,14618197,12899665,12893758,12871600,12747593,12716802,12710752,12665801,12637691,12624729,12617173,12616980,12615788,12578626,12518110,12514663,12511408,12477932,12406024,12393540,12356313,12161363,12151156,15104216,12141403,12122980 1580381,1580382,1580383,1580384,1580385,737709,1331525 2244 NM_005141,AC107385,AF388026,CH471056,J00131,J00132,M26877,M64983,X05018,AI174804,AK312972,BC007030,BC036007,BC070245,BC106760,BC107766,CR590454,CR592797,CR592803,CR593608,CR593807,CR593920,CR594221,CR594367,CR594460,CR594718,CR594764,CR594766,CR594769,CR595479,CR595550,CR595945,CR595998,CR596051,CR596719,CR596720,CR597172,CR597353,CR597369,CR597670,CR597709,CR597722,CR597783,CR598319,CR598606,CR600168,CR600529,CR600866,CR601684,CR601700,CR601953,CR602453,CR602793,CR602828,CR603045,CR604002,CR604009,CR604313,CR605124,CR605515,CR605676,CR605964,CR606336,CR606437,CR607409,CR608241,CR609143,CR609453,CR609458,CR611317,CR611382,CR611717,CR613391,CR613846,CR613960,CR614094,CR614201,CR614263,CR614265,CR614404,CR615740,CR615982,CR616572,CR616718,CR617174,CR617322,CR617356,CR617919,CR618377,CR618810,CR619840,CR620361,CR620628,CR621038,CR621559,CR621561,CR621583,CR621650,CR621672,CR622096,CR622186,CR622369,CR622383,CR623054,CR623131,CR623707,CR623793,CR624332,CR624480,CR624989,CR625311,CR625535,CR625744,CR626051,CR626133,CR626502,CR626504,J00129,J00133,T74412,CR618890 NP_005132,AAK62470,EAX04930,EAX04931,EAX04932,EAX04933,EAX04934,EAX04935,EAX04936,EAX04937,EAX04938,EAX04939,AAA98115,AAA98116,AAA52445,AAA18024,CAA28674,BAG35810,AAH07030,AAI06761,AAI07767,AAA52429,P02675,Q32Q65 Hs.300774 GDB:119130 MGC104327|MGC120405 fibrinogen, beta polypeptide protein-coding 1351228 FGD1 FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia) FGD1 contains Dbl (DH) and pleckstrin (PH) homology domains. It can bind specifically to the Rho family GTPase Cdc42Hs and stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. FGD1 has an essential role in embryonic development, and FGD1 gene mutations result in the human developmental disorder, Aarskog-Scott syndrome. 1580863 12913069,12673651,12477932,11940089,11181572,11093277,10930571,10906777,9268645,8994827,8268928,12134158,8969170,7954831,17847065,16688726,15743413,15489334,15327482,14560308 2245 NM_004463,CH471154,Z85987,AK226117,BC034530,CR617413,U11690 NP_004454,EAW93179,EAW93180,EAW93181,CAI42222,AAH34530,AAA57004,P98174,Q5H999 Hs.706749 GDB:119131 AAS|FGDY|ZFYVE3 protein-coding 1320399 FGD2 FYVE, RhoGEF and PH domain containing 2 1580863 17564959,15489334,14702039,14574404,12477932,11214971,10458911 221472 NM_173558,AL160264,CH471081,AK092732,AK097230,AK097981,AK131079,AK290419,BC023645,BC053655,BC062363,BX648164 NP_775829,CAI20471,EAX03932,EAX03933,BAC04982,BAC85129,BAF83108,AAH23645,AAH53655,AAH62363,Q7Z6J4,ABM84538,ABM85854 Hs.509664 GDB:9955253 MGC71330|ZFYVE4 fgd1 family, member 2 protein-coding 1323332 FGD3 FYVE, RhoGEF and PH domain containing 3 17564959,16344560,15489334,15164053,14702039,12477932,11214971,10721717,9373149,8125298 89846 NM_033086,AL389924,AL451065,CH471089,AK000004,AK225843,AK292676,AY211386,BC032429,BC111054,BF509875,BX647829,NM_001083536,CR591538,DA493667,DB161711 NP_001077005,NP_149077,CAI95107,EAW62840,EAW62841,EAW62842,EAW62843,EAW62844,EAW62845,EAW62846,EAW62847,BAA92229,BAF85365,AAP20645,AAH32429,AAI11055,Q4VX85,Q5JSP0,Q9NXY1 Hs.411081 GDB:11502353 FLJ00004|MGC117260|ZFYVE5 fgd1 family, member 3 protein-coding 732078 FGD4 FYVE, RhoGEF and PH domain containing 4 FGD4, or frabin, is a GDP/GTP exchange protein for CDC42 (MIM 116952) and shows actin filament (F-actin)-binding activity (Ikeda et al., 2001 [PubMed 11429692]).[supplied by OMIM] 1580863 17564972,17564959,15744041,15133042,14702039,12477932,11527409,11429692,9668039 121512 NM_139241,AC090440,AC090677,CH471116,AK057294,AL832064,AY367054,BC039708,BC045552,BC063403,BC096746 NP_640334,EAW88528,EAW88529,EAW88530,BAB71413,AAQ72372,AAH45552,Q49A55,Q96M96 Hs.117835 CMT4H|DKFZp313E1818|FRABP|MGC57222|ZFYVE6 protein-coding 1313708 FGD5 FYVE, RhoGEF and PH domain containing 5 15489334,14702039,12477932,10737800 152273 NM_152536,AC087591,AC090937,CH471055,AK096856,AK097276,AK123054,AK131078,BC035364,BC040614,BC132814,BC132816,BX538312,BX640820 NP_689749,EAW64208,EAW64209,BAC04878,BAC04989,BAC85128,AAH35364,AAI32815,AAI32817,CAD98090,Q6ZNL6,CAE45896 Hs.412406 ZFYVE23 protein-coding 1319292 FGD6 FYVE, RhoGEF and PH domain containing 6 15761153,15489334,15324660,14702039,12477932,10718198 55785 NM_018351,AC011598,AC126615,AC127165,CH471054,AB037783,AK002045,AK026881,AK124904,AK128492,BC013319,BC125225,BC125226,BX538322 NP_060821,EAW97521,BAA92600,BAA92052,BAC85990,BAC87464,AAH13319,AAI25226,AAI25227,CAD98096,Q6ZV73 Hs.506381 ZFYVE24 protein-coding 735698 FGF1 fibroblast growth factor 1 (acidic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Three alternatively spliced variants encoding different isoforms have been described. 1580863,2290286,2290287,2290291,2290288 15695515,15632285,15561939,15489334,15382229,15358178,15314170,15199049,14673954,14627732,12871334,12788899,12750963,12484774,12477932,12440521,12417591,12145206,12118009,12057924,12008951,11964394,11847269,11509569,11432880,11069186,11032250,10830168,10736564,10574949,10510314,10373120,10336501,10206481,9806903,9719643,9712836,9655399,9630568,9501919,8976296,8950275,8679713,8652550,7681435,7680120,15835896,1693186,10618369,14732692,17133345,10903182,3778488,1697263,8622701,9139660,11294897,16597617,18308335,18298822,18202770,17963255,17909102,17893707,17852407,17610236,17570396,17567994,17538174,17204151,17134911,16886895,16807244,16766579,16495214,16411766,16392031,16355415,16316338,16219767,16091423,15882952,15870071,7678925,7542239,7533902,7521397,7504343,3964259,3732516,3527167,3523756,2590193,2474753,2444975,2427112,2393407,1885605,1717925,1702556,1372643,11245213,16189514 2290286,2290287,2290291,2290288 2246 NM_033136,NM_033137,NM_000800,AC005370,AC005592,AY601819,CH471062,CQ848834,CQ855983,M23087,M30492,X59065,AF211169,AK289762,BC032697,BG706412,DQ655917,L01485,L01487,M13361,M60515,M60516,S67291,S67292,S67294,X51943,X65778,X65779 NP_149127,NP_149128,NP_000791,AAS99352,EAW61881,EAW61882,EAW61884,EAW61885,CAH18501,CAH23443,AAA52638,AAA52446,CAA41788,AAF22975,BAF82451,AAH32697,AAA52425,AAA52447,AAA79245,AAA51672,AAA51673,AAB29057,AAB29058,AAB29059,CAA36206,CAA46661,CAA46662,P05230,Q16089,Q16588,Q6LBM3,Q9UBK1,Q9UH63 Hs.483635 GDB:119909 AFGF|ECGF|ECGF-beta|ECGFA|ECGFB|FGF-alpha|FGFA|GLIO703|HBGF1 fibroblast growth factor 1 protein-coding 734330 FGF10 fibroblast growth factor 10 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. 1580863,737805,737804,737803 11923311,12591959,17133345,9916808,9287324,8622701,11294897,16597617,18454440,18081024,17944804,17682060,17609292,17496316,17471512,17360555,17264867,17213838,17071719,16630169,16597614,16501574,16323074,15806171,15690149,15679583,15654336,15632068,15489334,15208658,14975937,14726452,12818887,12804770,12477932,11286634,10951499,9927546,9582367 737805,737804,737803 2255 NM_004465,AC093289,AC093537,AY604046,CH471119,CQ897310,AB002097,AF411527,AF508782,BC069561,BC105021,BC105023,CR541665,CR541688,U67918 NP_004456,AAS99733,EAW56075,CAH69769,BAA22331,AAL05875,AAM46926,AAH69561,AAI05022,AAI05024,CAG46466,CAG46489,AAB61991,O15520,Q6FHR3,Q8NFI9 Hs.664499 GDB:5218411 protein-coding 734211 FGF11 fibroblast growth factor 11 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. 1580863 12477932,10662545,9070933,8790420,15489334,15199049,14702039 2256 NM_004112,AC113189,AY094623,CH471108,AB209390,AY049782,BC032502,BC037421,CR597907,U66199,Z70275,BC108265 NP_004103,AAM11871,EAW90187,BAD92627,AAL15439,AAH32502,AAI08266,AAB18915,CAA94239,Q59FR9,Q6LA99,Q92914 Hs.655193 GDB:4073037 FHF3|FLJ16061|MGC102953|MGC45269 protein-coding 1348702 FGF12 fibroblast growth factor 12 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. 15199049,14702039,12815063,12477932,12401812,11378392,9345906,7829101,8790420,10049777,18289114,15489334 2257 NM_004113,NM_021032,AC026671,AC073363,AC079623,AC079847,AC128710,CH471052,CS263102,AK125307,BC022524,BI494808,U66197,U76381,Z70276 NP_004104,NP_066360,EAW78084,EAW78085,EAW78086,CAJ77469,AAH22524,AAB18913,AAB18786,CAA94240,P61328,Q99517,ABM92221,ABM84701 Hs.584758 GDB:4073038 FGF12B|FHF1 protein-coding 733500 FGF13 fibroblast growth factor 13 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located to a region associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked mental retardation, which suggests it may be a candidate gene for familial cases of the BFL syndrome. The function of this gene has not yet been determined. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. 8790420,12244047,15489334,15282281,15199049,12496262,12477932,11847221,10644718,10071193,9914447,9751161 2258 NM_004114,AL031386,AY672645,CH471150,CS173331,Z82193,Z82204,AF100143,AF100144,AF199612,AK289960,BC012347,BC034340,U66198,NM_033642 CAI42697,CAI42699,NP_378668,NP_004105,CAI95613,CAI95615,CAI95616,AAT70720,EAW88435,EAW88436,EAW88437,EAW88438,EAW88439,EAW88440,CAJ33717,CAI95673,CAI95674,CAI95675,CAI95677,CAI42696,CAI42701,AAD16400,AAD16401,AAF31399,BAF82649,AAH12347,AAH34340,AAB18914,Q4VXY1,Q4VXY4,Q92913,ABM83461,ABM86672 Hs.6540 GDB:5218393 FGF2|FHF2 protein-coding 1343584 FGF14 fibroblast growth factor 14 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. 1580863 8790420,17236779,17221845,16211615,16166153,15470364,15365159,15199049,15148151,15057823,12489043,12477932,12364586,12123606 2259 NM_175929,NM_004115,AE014303,AL139802,AL160153,AL161899,AL356263,AL356266,AL512629,AL591909,CH471085,AY188178,BC100920,BC100921,BC100922,U66200 NP_787125,NP_004106,AAN16025,EAX09054,EAX09055,AAO31806,AAI00921,AAI00922,AAI00923,AAB18916,Q92915 Hs.709649 GDB:5302693 FHF4|MGC119129|SCA27 protein-coding 733065 FGF16 fibroblast growth factor 16 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The rat homolog is predominantly expressed in embryonic brown adipose tissue and has significant mitogenic activity, which suggests a role in proliferation of embryonic brown adipose tissue. 70737,1580863 9473496,17133345,1697263,11294897,16597617,16756958,15199049,11474196,11276432 70737 8823 NM_003868,BX682239,CH471104,AB009391 NP_003859,CAI43189,EAW98617,BAA24956,O43320,Q5HY72,AAI48640,AAI53197 Hs.666364 GDB:9957323 protein-coding 733951 FGF17 fibroblast growth factor 17 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was shown to be prominently expressed in the cerebellum and cortex. The mouse homolog of this gene was localized to specific sites in the midline structures of the forebrain, the midbrain-hindbrain junction, developing skeleton and developing arteries, which suggests a role in central nervous system, bone and vascular development. This gene was referred to as FGF-13 in reference 2, however, its amino acid sequence and chromosomal localization are identical to FGF17. 69833,708340,1580863 9514906,17133345,1697263,9139660,11294897,16597617,12975309,15489334,15199049,15129425,14702039,12477932,10751172,10381577,9751161,8889548 69833,708340 8822 NM_003867,AC091171,AF497475,CH471080,AB009249,AK091643,AY358869,BC069475,BC105131,BC113489,BM666883 NP_003858,AAM09570,EAW63727,EAW63728,EAW63729,BAA25429,AAQ89228,AAH69475,AAI05132,AAI13490,O60258 Hs.248192 GDB:9957320 FGF-13 protein-coding 737083 FGF18 fibroblast growth factor 18 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. 69834,1580863,704404 9742123,17133345,1697263,11294897,16597617,11256614,17890768,17360555,17128416,16756958,16381901,16019430,15749088,15489336,15489334,15199049,12975309,12477932,11124520,11076863,10751172,10353607,9660775 69834 8817 NM_003862,AC011400,AC093246,CH471062,CS008054,AB007422,AF075292,AF211188,AY358811,BC006245,BT019570,BT019571 NP_003853,EAW61441,EAW61442,CAI53491,BAA31986,AAC62240,AAF22977,AAQ89954,AAH06245,AAV38377,AAV38378,O76093,Q0JS41,CAL38673,ABM83662,ABM86909 Hs.87191 GDB:9957311 FGF-18|ZFGF5 protein-coding 1344909 FGF19 fibroblast growth factor 19 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This growth factor is a high affinity, heparin dependent ligand for FGFR4. Expression of this gene was detected only in fetal but not adult brain tissue. Synergistic interaction of the chick homolog and Wnt-8c has been shown to be required for initiation of inner ear development. 1580863 9931477,11294897,16597617,17711860,17599042,17339340,17000708,15489334,15340161,15199049,14976145,14730967,12975309,12815072,12792807,12477932,12057932,11956156,11110663,10525310 9965 NM_005117,AP001888,CH471076,AB018122,AF110400,AY358302,BC017664,BT006729,CR610453 NP_005108,EAW74751,BAA75500,AAD45973,AAQ88669,AAH17664,AAP35375,O95750 Hs.249200 GDB:9958531 protein-coding 70822 FGF2 fibroblast growth factor 2 (basic) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. 1580863,704404,2290290,2290287,2290291,2290288,2290303,2292211 11075807,10848592,16867222,16840552,16822883,16820871,16816927,16807244,16769728,16739027,16723715,16709186,16685268,16638370,16631837,16597610,16521228,16495214,16490198,16320338,16304044,16278388,16257968,16227592,16222707,16210019,16160009,16135988,16103882,16095497,16080018,16077988,16077964,15996482,15985216,15947088,15942693,15906377,15875782,15875316,15825079,15817123,15809086,15780951,9712850,17133345,9576942,10903182,2435575,1697263,8622701,9139660,11294897,16597617,10490103,18279437,18187129,18171671,18164704,18164591,18088275,18055262,18052595,18042549,18031768,18006148,17997184,17968943,17968311,15769511,15756443,15737206,15731686,15726914,15725477,15713745,15703886,15695515,15680705,15631865,15610530,15603823,15573376,15525641,15496150,15481452,15464234,15342556,15316024,15302993,15297314,15293454,15249224,15247275,15247002,15243127,15208265,15199049,15166228,15146197,15120936,15117822,15096041,15033176,14706681,14699503,14680499,14672345,14669345,14630795,14523006,13680247,12872165,12871334,12871330,15769981,3732516,3579930,3472745,2726761,2538817,2435284,2320377,2265560,1885605,1849658,1785797,1769963,1707542,1702556,1417798,11141237,15689238,16436505,16982797,11030354,12717444,12857600,12823444,12815619,12799459,12755687,12746216,12727994,12682649,12676798,12659634,12651930,12631070,12623787,12607599,12590983,12574959,12571252,12545206,12538477,12517814,12509902,12496364,12478660,12477932,12428103,12403780,12393937,12369790,12235165,12209593,12172783,12168799,12145206,12087465,12080186,12057924,12857733,12054499,12032827,12020352,12008951,12006402,12000311,11999550,11986954,11985797,11976347,11964307,11960370,11940567,11928807,11891801,11891198,11864711,11847221,11815602,11796824,11742492,11716516,11708770,11598182,11509569,11390973,11276432,11066092,10950949,10652299,10438928,10397733,10358027,9925931,9858574,9826564,9558385,9342064,9266968,8885834,8530375,8344959,7999082,7935812,7735329,7691311,7532176,3964259,3780670,17942638,17929017,17825301,17762899,17726742,17724016,17706726,17949478,17699594,17676480,17653045,17651425,17637743,17578349,17556598,17543283,17537668,17537644,17532297,17522998,17505261,17503459,17478553,17466952,17381064,17234579,17204151,17169545,17157157,16996573,16949906,16905765,16876430 2290290,2290287,2290291,2290288,2290303,2292211 2247 AC021205,CH471056,S81809,X04431,X04432,X04433,Y13468,AA256481,AY820133,BC111737,BE439775,BP292299,BU501243,CN315083,J04513,NM_002006,M17599,M27968,S47380 NP_001997,EAX05222,AAB21432,CAA28027,CAA28028,CAA28029,CAA73868,AAV70487,AAA52531,AAA52532,AAA52533,AAA52534,AAA52448,AAD13853,O00527,P09038,P78443,Q16443,Q5PY50,Q7KZ11,Q7KZ72,Q9UC54,AAI66646 Hs.284244 GDB:119910 BFGF|FGFB|HBGF-2 protein-coding 731457 FGF20 fibroblast growth factor 20 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was shown to be expressed in normal brain, particularly the cerebellum. The rat homolog is preferentially expressed in the brain and able to enhance the survival of midbrain dopaminergic neurons in vitro. 1580863 15592430,10913340,17133345,1697263,9139660,11294897,16597617,18252210,18205889,17515805,15967032,15122513,12477932,11306498,11032730 26281 NM_019851,AC025218,AC136305,AY696296,CH471080,CQ967762,AB030648,AB044277,BC096720,BC098128,BC098153,BC098339,BC127125,BC137446,BC137447,BC141980 NP_062825,AAT85804,EAW63828,CAI38634,BAB03530,BAB03633,AAH96720,AAH98128,AAH98153,AAH98339,AAI37447,AAI37448,Q4V769,Q9NP95 Hs.199905 GDB:10795386 protein-coding 1344631 FGF21 fibroblast growth factor 21 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this growth factor has not yet been determined. 1303354,1580863 10858549,17926232,17452648,17068132,15902306,15340161,15199049,12975309,12477932 1303354 26291 NM_019113,NG_007510,AC009002,CH471177,AB021975,AY359086,BC018404 NP_061986,EAW52401,EAW52402,BAA99415,AAQ89444,AAH18404,Q8N683,Q9NSA1,ABM82712,ABM85896 Hs.283015 GDB:10795388 protein-coding 733776 FGF22 fibroblast growth factor 22 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. 1580863 11342227,17133345,8622701,11294897,16597617,15806171,15199049,12975309 27006 NM_020637,AC004449,AY426986,CH471242,AB021925,AY359084 NP_065688,AAC06148,AAQ93357,EAW61175,EAW61176,BAB13479,AAQ89955,O60371,Q9HCT0 Hs.248087 GDB:10795428 protein-coding 1351456 FGF23 fibroblast growth factor 23 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The product of this gene inhibits renal tubular phosphate transport. This gene was identified by its mutations associated with autosomal dominant hypophosphatemic rickets (ADHR), an inherited phosphate wasting disorder. Abnormally high level expression of this gene was found in oncogenic hypophosphatemic osteomalacia (OHO), a phenotypically similar disease caused by abnormal phosphate metabolism. Mutations in this gene have also been shown to cause familial tumoral calcinosis with hyperphosphatemia. 1598933,1580863 16234967,16081635,16055933,16033853,15961556,15930999,15749088,15613425,15590700,15489334,15340161,15284207,15268897,15264182,15248822,15199049,14988389,14633152,12975309,12874285,12854832,12851820,12791601,12678920,12590648,12519781,12477932,12419819,12032180,12032146,11805436,11737582,11409890,11344269,11157998,17086194,17133345,1697263,9139660,11294897,16597617,18310961,17982392,17968495,17761032,17699549,17567652,17494882,17464094,17374707,17359508,17333246,17129170,16941023,16638743,16381997,16352682,16337659,11062477,11032749 1598933 8074 NM_020638,NG_007087,AC008012,AY336491,AY566236,CH471116,CS072309,AB037973,AB047858,AF263537,AY358323,BC069333,BC096713,BC098147,BC098252 NP_065689,AAP97433,AAS59157,EAW88848,CAI93447,BAB13477,BAB55889,AAG09917,AAQ88689,AAH69333,AAH96713,AAH98147,AAH98252,Q7Z4T2,Q9GZV9 Hs.287370 GDB:10450034 ADHR|HPDR2|HYPF|PHPTC protein-coding 1346722 FGF3 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its similarity with mouse fgf3/int-2, a proto-oncogene activated in virally induced mammary tumors in the mouse. Frequent amplification of this gene has been found in human tumors, which may be important for neoplastic transformation and tumor progression. Studies of the similar genes in mouse and chicken suggested the role in inner ear formation. 1580863 2470007,17133345,8622701,11294897,16597617,17656375,17360555,17236138,16263090,15489334,15199049,12477932,11438656,10749884,8663044,8223243,3023852,1922362 2248 NM_005247,AP006345,CH471076,X14445,BC113739 NP_005238,EAW74753,EAW74754,CAA32615,AAI13740,P11487 Hs.37092 GDB:120103 HBGF-3|INT2 protein-coding 1343486 FGF4 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. 1580863 2959959,17133345,1697263,9139660,11294897,16597617,18192227,17852409,17390055,15695515,15199049,14980503,12923055,12841847,11021964,10089404,8663044,3283658,3060803,2974287,2957062,2953031,1611909,12172783,12163055,12008951,11840335,11743396,11486033 2249 AAB21430 NM_002007,AP001888,CH471076,CQ783028,J02986,M17446 NP_001998,EAW74752,CAF86234,AAB59555,AAB59556,AAA59473,AAB21430,P08620,Q14569,AAI56334 Hs.1755 GDB:120066 HBGF-4|HST|HST-1|HSTF1|K-FGF|KFGF protein-coding 1350517 FGF5 fibroblast growth factor 5 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 3211147,9786939,17133345,1697263,9139660,16597617,15199049,14702039,12477932,12008951,11876253,11715949,11454700,10823842,9333017,9323936,9134330,8663044,8386828,8374885,7923352,2577873,2005884,1700424,1658709 2250 NM_033143,AC021127,CH471057,DQ151636,M23534,M23536,AA461028,AB016517,AF171928,NM_004464,AF355187,AF535149,AK090557,AK291962,BC074858,BC074859,BC131502,BG252761,BQ001160,DR004226,M37825 NP_004455,NP_149134,EAX05859,EAX05860,AAZ67914,AAB60698,AAB60699,BAA33738,AAF89742,AAQ15127,AAN04097,BAC03477,BAF84651,AAH74858,AAH74859,AAI31503,AAB06463,P12034,Q6A549,Q8NBG6,Q8NF90 Hs.37055 GDB:119907 HBGF-5|Smag-82 protein-coding 732549 FGF6 fibroblast growth factor 6 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. 1580863,2289066 2649847,17133345,1697263,9139660,11294897,16597617,15489334,15199049,12477932,11801566,10945637,8663044,8020938,1886714,1549352,1385111 2289066 2251 NM_020996,AC008012,AY581424,CH471116,X14071,X14072,X14073,X57075,BC121097,BC121098,X63454 NP_066276,AAS79318,EAW88847,CAB37648,CAA40358,CAA40359,CAA40360,AAI21098,AAI21099,CAA45054,P10767 Hs.166015 GDB:119908 HBGF-6|HST2 protein-coding 69203 FGF7 fibroblast growth factor 7 (keratinocyte growth factor) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. 1580863,2289084,2289080,2289085,2289086 15695515,15690149,15679583,15677771,15613483,15562028,15327889,15252450,15250830,14962112,12802496,12645668,12529371,12477932,12438323,12413766,12243757,12215437,12122441,12016100,12008951,11973338,11943656,11937263,11891329,11821103,11326315,11147673,11000522,10702276,9794620,9369951,9326632,8898224,8663044,8566750,8392040,7749227,2475908,7973639,17133345,2915979,11294897,17994369,17944804,17882267,17786302,17706640,17692400,17609292,17596295,17525264,17360555,17301835,17200110,17049492,16984257,16554439,16216128,16162944,16141466,15809711,15806171,15781986,7687739,7680645,1664700,1409637,1281549,16189514 2289084,2289080,2289085,2289086 2252 NM_002009,AC022306,AC025919,AY496041,CH471082,BC010956,CR542002,CR593889,CR609737,CR617541,M60828,S81661 NP_002000,AAR87872,EAW77376,AAH10956,CAG46799,AAA63210,AAB21431,P21781,Q6FGV5,Q6RK68,Q96FG5 Hs.567268 GDB:131444 HBGF-7|KGF protein-coding 1351158 FGF7P1 fibroblast growth factor 7 pseudogene 1 9326632 387559 NG_006580,AP005121 HsT283 pseudo 1342596 FGF7P2 fibroblast growth factor 7 pseudogene 2 9326632 394217 NG_005961,AL049911,AL163203 CAB90393,Q9NSJ0 FGF7L|PRED3 pseudo 733956 FGF8 fibroblast growth factor 8 (androgen-induced) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. 1580863,2289339,2289343,2289338,2289340,2289342,2289344 17133345,8700553,8661131,1697263,9139660,11294897,16597617,17600781,17512240,17264867,16683270,16384934,15935652,15199049,12778074,12477932,12140757,12054865,11953856,11420691,11358849,11341643,11021964,10751172,10736564,10574949,9332670,8891346,8663044,8595889,7737407 2289339,2289343,2289338,2289340,2289342,2289344 2253 NM_006119,NM_033165,NM_033163,NM_033164,NG_007151,AC010789,AF520763,CH471066,CS007996,D38752,S78466,U36228,U47011,AB014615,BC069106,BC128235,BC128236,U36223,U46211,U46212,U46213,U56978 NP_006110,NP_149355,NP_149353,NP_149354,AAM55238,EAW49746,EAW49747,EAW49748,EAW49749,EAW49750,CAI53480,BAA22527,AAB34255,AAB17894,AAC50782,AAC50783,AAC50784,AAC50785,BAA28605,AAH69106,AAI28236,AAI28237,AAB17893,AAB40953,AAB40954,AAB40955,AAB03787,P55075,Q6NTD1 Hs.57710 GDB:591889 AIGF|HBGF-8|MGC149376 fibroblast growth factor 8 protein-coding 735806 FGF9 fibroblast growth factor 9 (glia-activating factor) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. 69835,1580863,704404 8321227,8575785,17133345,1697263,9139660,11294897,16597617,18165946,17154280,16982695,16540513,15780951,15489334,15199049,15057823,14602803,12565813,12477932,12072406,11223514,11060292,10574949,10544294,10362017,9507114,9121694,8663044,8576175,8428960 69835 2254 NM_002010,AL139378,AY682094,CH471075,AK290792,BC069692,BC103978,BC103979,D14838 NP_002001,CAC17692,AAT74624,EAX08316,BAF83481,AAH69692,AAI03979,AAI03980,BAA03572,P31371 Hs.111 GDB:207221 GAF|HBFG-9|MGC119914|MGC119915 fibroblast growth factor 9 protein-coding 1350352 FGFBP1 fibroblast growth factor binding protein 1 FGFBP1, or HBP17, binds to both acidic (FGF1; MIM 131220) and basic (FGF2; MIM 134920) fibroblast growth factors in a reversible manner. It also binds to perlecan (HSPG2; MIM 142461).[supplied by OMIM] 1580863 10753873,1885605,16713569,16352855,16324873,16257968,15806171,15489334,12477932,11509569,11407864,11291074,11148217,9784842,9334727,9982,16189514 9982 NM_005130,AC005798,AF149412,CH471069,BC003628,BC008910,BC018852,BQ435589,BX434467,CR593039,M60047 NP_005121,AAD39216,EAW92748,AAH03628,AAH08910,AAA58636,Q14512 Hs.1690 FGFBP|HBP17 protein-coding 1602454 FGFBP2 fibroblast growth factor binding protein 2 KSP37 is constitutively secreted by Th1-type CD4 (MIM 186940)-positive T lymphocytes and by lymphocytes with cytotoxic potential that usually coexpress perforin (PRF1; MIM 170280).[supplied by OMIM] 15489334,12975309,12477932,12322897,11342666 83888 NM_031950,AC005598,CH471069,AB021123,AF361936,AY358978,BC025720 ABM82988,ABM86182,NP_114156,EAW92749,BAB39770,AAK51503,AAQ89337,AAH25720,Q9BYJ0 Hs.98785 KSP37 protein-coding 1347294 FGFBP3 fibroblast growth factor binding protein 3 16303743,15489334,15164054,12477932 143282 NM_152429,AL359198,CH471066,CS051215,AK075410,BC025966,DQ503576 NP_689642,CAH73477,EAW50104,CAI72103,BAC11602,AAH25966,ABF56582,Q8TAT2 Hs.591917 C10orf13|FGF-BP3|MGC39320 chromosome 10 open reading frame 13 protein-coding 732290 FGFR1 fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome) The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863,704404 1846977,2159626,2167437,8753773,9660748,10748122,17086194,7874169,10918587,9139660,16597617,18469019,18415014,18315732,18216705,18171671,18160472,18042549,18034870,17963255,17893707,17696196,17671674,17545628,17414280,17397528,17389761,17366557,17360555,17343269,17318851,17255109,17154279,17121884,16949906,16882753,16876430,16807244,16807070,16764984,16757108,16685373,16606836,16598308,16470795,16424058,16365308,16344560,16335952,16316338,16305343,16188231,16186508,16091423,15955231,15929978,15863034,15845591,15817662,15774903,15767480,15695515,15680705,15625620,15618886,15613419,15605412,15564375,15558020,15509650,15489334,15316024,15297314,15273729,15117958,15096041,15001591,14702039,14636241,14587039,14513299,12799194,12794748,12791257,12746216,12651930,12627230,12614330,12604616,12601080,12594223,12573278,12477932,12440521,12411316,12397010,12373339,12181353,12141425,12121226,12080186,12031912,12020352,11919391,11877385,11759058,11746971,11693202,11486033,11459840,11257130,11173846,11090629,11032250,11030354,10950949,10830168,10751172,10713090,10629055,10574949,10551883,10490103,10464310,10336501,9949182,9655399,9632781,9480847,9373149,9212826,8929854,8756477,8752212,8737680,8692946,8663044,8622701,8417497,8386828,8125298,8074689,7789168,7761103,7680645,7537362,7516330,7514169,2554327,2162671,1722683,1722570,1697263,1689310,1662973,1652059,1650441,1380281,1379698,1379697,1317750,16189514 2260 AF173898,AK001052,AK024388,AK094303,AK130555,AK222718,AK223126,AK291754,AK292470,AW206093,BC015035,BC018128,BC091494,BQ774633,BX649167,CX756209,CX757985,DB300904,M34185,M34186,M34187,M34188,M34641,M37722,M60485,NM_023105,NM_023106,NM_023110,NM_023111,NM_015850,NM_023107,NM_023108,NG_007729,A29216,AC087623,AY585209,CH471080,M63887,M63888,M63889,X51803,X52833,X57118,X57119,X57120,X57121,X57122,X66945,Y00665,AB208919 AAQ13645,BAB14904,BAD96438,BAD96846,BAF84443,BAF85159,AAH15035,AAH18128,AAH91494,AAA35836,AAA35837,AAA35838,AAA35839,AAA35835,AAA75007,BAD92156,NP_075593,NP_075594,NP_075598,NP_075599,NP_056934,NP_075595,NP_075596,CAA01958,AAS79322,EAW63303,EAW63304,EAW63305,EAW63306,EAW63307,EAW63308,EAW63309,EAW63310,EAW63311,EAW63312,EAW63313,EAW63314,EAW63315,EAW63316,AAA35840,AAA35958,AAA35959,AAA35960,CAA36101,CAA37015,CAA40400,CAA40401,CAA40402,CAA40403,CAA40404,CAA47375,CAA68679,P11362,Q53G05,Q53H63,Q59H40,Q5BJG2,Q7Z2S2,Q9H7S2,Q9UD50,Q9UDF0,Q9UDF2,ABM85925 Hs.264887 GDB:119913 BFGFR|CD331|CEK|FGFBR|FLG|FLT2|HBGFR|KAL2|N-SAM fibroblast growth factor receptor 1 protein-coding 1313011 FGFR1OP FGFR1 oncogene partner This gene encodes a largely hydrophilic protein postulated to be a leucine-rich protein family member. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. This gene is thought to play an important role in normal proliferation and differentiation of the erythroid lineage. Alternatively spliced transcript variants that encode different proteins have been identified. 14574404,15144186,14654843,12969958,12477932,11689702,10373756,9949182,17888034,16690081,16314388,15489334 11116 NM_007045,NM_194429,CH471051,Z94721,AJ420472,AK289846,BC011902,BC037785,BU625682,Y18046 NP_008976,NP_919410,EAW47509,EAW47510,CAI19642,CAI19643,BAF82535,AAH11902,AAH37785,CAA77020,O95684,ABM83963,ABM87277 Hs.487175 FOP protein-coding 1348205 FGFR1OP2 FGFR1 oncogene partner 2 15034873,14702039,12477932,11042152 26127 NM_015633,AC024093,AC024896,CH471094,AF161472,AK001534,AL117608,AY506561,BC032143 NP_056448,EAW96540,EAW96541,AAF29087,BAA91745,CAB56012,AAR91611,AAH32143,Q9NVK5 Hs.591162 DKFZp564O1863|HSPC123-like protein-coding 736865 FGFR2 fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863,704404,2289657,2289658,2289660,2289664,2289728,2289733,2289845,2289862,2289084,2289746,2289086 1400433,1697263,8676562,10618369,12591959,17981115,17133345,12493773,11294897,18483326,18437204,18381441,18355772,18315732,18285324,18247426,18216705,18056630,18049087,17997823,17944804,17850625,17803937,17760502,17699848,17692400,17682060,17622301,17545628,17537644,17529973,17529967,17525745,17525264,17512901,17482184,17459342,17458890,17449949,17414280,17343269,17264867,17251833,17243131,17189145,16984257,16844695,16842598,16807244,16709412,16603716,16501574,16440883,16418739,16410617,16391783,16384934,16373332,16365308,16219767,16216128,16210019,16188231,16141466,16091423,16061565,15931389,15930103,15863034,15840724,15829502,15796961,15728256,15643506,15632068,15622262,15618886,15602758,15561780,15523492,15516981,15489334,15389579,15282208,15229180,15206560,15190072,15146197,15105428,15069536,14624010,14559809,12893942,12692135,12684693,12684685,12648559,12618336,12608893,12529371,12482414,12477932,12393912,12373339,12168799,12162872,12122441,12072807,12032146,12000365,11937263,11876253,11856867,11781872,11759058,11693202,11556600,11493535,11390973,11380921,11325814,11292657,11173845,11069186,10951518,10950949,10945669,10830168,10751172,10712195,10626794,10574673,10394936,10196476,9719378,9714439,9693549,9677057,9585583,9582367,9521581,9385368,9300181,9266968,9212826,9152842,9150725,9018118,9002682,8958319,8956050,8946174,8889548,8696350,8673103,8663044,8644708,8576175,8528214,8434615,8417497,8355693,8188211,7999363,7987400,7874170,7866434,7719345,7719344,7719333,7687739,7668257,7655462,7581378,7528517,2377625,2172978,1846048,1674718,1652059,1648704,1647213,1582255,1380281,1313574,1309608 2289657,2289658,2289660,2289664,2289728,2289733,2289845,2289862,2289084,2289746,2289086 2263 NM_000141,NM_022970,AC009988,AF097340,AF097341,AF097353,AF097354,AF169399,AF360695,AF487553,DQ493927,L49237,L49238,L49239,L49240,L49241,L49242,S40853,S40858,S41870,S41873,S82438,Y17131,AB030073,AB030074,AB030075,AB030076,AB030077,AB030078,AB084153,AK026508,AK308621,BC037338,BC039243,BC096749,CB305736,CN345547,M55614,CS173036,CH471066,M80634,M87770,M87771,M87772,M97193,S41878,U11814,X52832,X56191,Z71929 NP_000132,NP_075259,AAD31562,AAD31561,AAD31567,AAD31560,AAD31565,AAF43273,AAF43274,AAK94205,AAK94206,AAK94207,AAK94208,AAK94209,ABE96832,AAC41933,AAC41935,AAC41936,AAC41937,AAC41938,AAC41934,AAB19319,AAB19320,AAB19321,AAB19322,AAD14392,CAA76643,BAA89296,BAA89297,BAA89298,BAA89299,BAA89300,BAA89301,BAC45037,AAH39243,AAA61188,EAW49339,EAW49340,EAW49341,EAW49342,EAW49343,EAW49344,EAW49345,EAW49346,EAW49347,EAW49348,EAW49349,EAW49350,EAW49351,EAW49352,EAW49353,EAW49354,EAW49355,EAW49356,EAW49357,EAW49358,EAW49359,EAW49360,CAJ33699,AAM74056,EAW49338,AAA36147,AAA59470,AAA59471,AAA59472,AAA52449,AAB19323,AAA68514,CAA37014,CAA39654,CAA96492,P21802,Q16888,Q1KHY5,Q7KZ14,Q8IXC7,Q9UEH2,Q9UMA9,Q9UMB0 Hs.533683 GDB:127273 BEK|BFR-1|CD332|CEK3|CFD1|ECT1|FLJ98662|JWS|JWS; TK14|K-SAM|KGFR|TK14|TK25 fibroblast growth factor receptor 2 protein-coding 733044 FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Alternative splicing occurs and additional variants have been described, including those utilizing alternate exon 8 rather than 9, but their full-length nature has not been determined. 1580863,704404,1598937,2289863,2289865,2289866,2289868,2289864,2289867 16274647,16210019,16169070,16149130,16091423,16061860,15940250,15915095,15880580,15869706,15788896,15772091,15701828,15558020,15517832,15322115,15292251,15241680,15221641,15105428,15026322,14751560,14715624,14678961,14667819,14606518,14562121,14551213,14520460,12929929,12921294,12833394,12817007,12764678,12707965,12664252,12637327,12626508,12624096,12576423,12477932,12461689,12433679,12424440,12373339,12368206,12368157,12297284,12244095,12048679,12032146,12009017,11940572,11906172,11839738,11827956,11759058,17624273,17621485,17602067,17585316,17561467,17554105,17509076,17507011,17414280,17392824,17384684,17375526,17343269,17320202,17256796,17255960,17240035,17114345,17070479,17033969,16885334,16877735,16849642,16841094,16778799,16685373,16634636,16570285,16532037,16501574,16467200,16434832,16412606,16410555,16384584,16365308,16288035,16278395,16278391,7923141,14732692,10918587,8601314,11294897,16597617,18231634,18216705,18199430,18072261,18036184,18000976,18000903,17875876,17867603,17867592,17803960,17785202,17683901,17668422,11754059,11746040,11731410,11703096,11556601,11529856,11426459,11424131,11350938,11329138,11325814,11314002,11134040,11055896,11030304,10777366,10751172,10671061,10648414,10574949,10471491,10425034,10395236,10361991,10360402,10360393,10360392,10215410,10094188,10073901,10053006,9950339,9843049,9842995,9790257,9677066,9672519,9585583,9580776,9525367,9452043,9279753,9212826,9207791,9142922,9107244,9045692,9042914,8858131,8845844,8841188,8663044,8626374,8599935,8599370,8589699,8589686,8576175,8530501,8428519,8081365,8078586,8012398,8012397,7913883,7847369,7773297,7758520,7690989,7670477,7657660,7649548,9126476,7647778,7543024,7495869,7493034,2247464,1847508,1664411,1470 1598937,2289863,2289865,2289866,2289868,2289864,2289867 2261 NM_022965,AC016773,AF487554,AY768549,CH471131,S76733,U22410,AB209441,AF238374,AF245114,AF369211,AF369212,AF369213,BC121175,BC128610,BC153824,M58051,M59374,M64347,X84939,NM_000142 NP_075254,AAM22078,AAM22079,AAU89726,EAW82562,EAW82563,EAW82564,EAW82565,EAW82566,EAW82567,EAW82568,AAB33323,AAA67781,BAD92678,AAF97749,AAF63380,AAK54727,AAK54728,AAK54729,AAI21176,AAI28611,AAI53825,AAA52450,AAA63209,AAA58470,NP_000133,CAA59334,P22607,Q0IJ44,Q59FL9,Q8NI15,Q8NI16,Q96T34,Q96T35,Q96T36,Q9NRB6,AAI66684 Hs.1420 GDB:127526 ACH|CD333|CEK2|HSFGFR3EX|JTK4 fibroblast growth factor receptor 3 protein-coding 1347116 FGFR3P fibroblast growth factor receptor 3 pseudogene 387121 736644 FGFR4 fibroblast growth factor receptor 4 The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. The genomic organization of this gene, compared to members 1-3, encompasses 18 exons rather than 19 or 20. Although alternative splicing has been observed, there is no evidence that the C-terminal half of the IgIII domain of this protein varies between three alternate forms, as indicated for members 1-3. This particular family member preferentially binds acidic fibroblast growth factor and, although its specific function is unknown, it is overexpressed in gynecological tumor samples, suggesting a role in breast and ovarian tumorigenesis. 1580863 10918587,11294897,16597617,18487077,18315732,18310279,17664243,17599042,17519899,17487277,17084840,16822847,16721364,16210019,16109476,16091423,16061909,16012724,15750181,15564323,15489334,15448004,15340161,15322115,15231874,15075241,15070963,14601095,14551213,12817007,12815007,12642581,12637327,12626508,12576423,12477932,12373339,12244095,11981041,11958417,11940572,11839738,11830541,11781352,11759058,11549253,11350938,11271786,10751172,10736564,10691305,10631118,10525310,10336501,9457674,9373149,9212826,9211733,9168198,8663044,8626374,8576110,8530375,8125298,8099571,7690989,7680645,7657660,7543024,7518429,2247464,1720539,14710228,1709094,1385111,1377018,1322355 2264 AAB25788 NM_213647,NM_002011,NM_022963,AC027314,AF487555,CH471195,X68559,Y13901,AF202063,AF359241,AF359246,AK225280,AK225909,BC011847,BF307233,L03840,M59373,X57205,AB209631 NP_998812,NP_002002,NP_075252,AAM13666,EAW85034,EAW85035,EAW85036,EAW85037,CAB75718,CAA74200,AAF27432,AAK43714,AAK51435,AAH11847,AAB59389,AAA63208,CAA40490,AAB25788,P22455,Q59F30,Q6LBK2,Q71TW8,Q8TDA0,Q96KE5,BAD92868,ABM84384,ABM87347 Hs.165950 GDB:127929 CD334|JTK2|MGC20292|TKF protein-coding 1343286 FGFR6 fibroblast growth factor receptor 6 9098453,8864177,8307783 2265 L25647,U49177 GDB:342070 protein-coding 1354107 FGFRL1 fibroblast growth factor receptor-like 1 The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. 1580863 11031111,18061161,16273302,16019430,15489334,15340161,14702039,12975309,12813049,12477932,11418238,11267671,9373149,8125298 53834 NM_001004356,NM_001004358,NM_021923,AC019103,CH471131,AF279689,AF312678,AJ277437,AK000530,AK022597,AK172829,AK225486,AV707425,AY358303,BC002537,BC013955,BC015228,BC036769,BQ689625 NP_001004356,NP_001004358,NP_068742,EAW82615,AAK26742,AAK15273,CAC14171,BAA91234,BAD18794,AAQ88670,AAH13955,AAH15228,AAH36769,Q6ZMD4,Q8N441,Q9NWZ1,ABM83343,ABM86557 Hs.193326 GDB:10796331 FGFR5|FHFR protein-coding 731481 FGG fibrinogen gamma chain The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in two transcript variants encoding different isoforms. 1599810,737710,1580863 2742826,5084810,7356959,10605720,8470043,18278190,18239174,18208536,18202324,18000621,17956865,17949478,17938819,17883696,17854317,17849064,17827388,17688324,17650452,17591786,17565664,17543500,17445871,17403086,17264959,17263791,17241179,17018627,16940416,16706972,16705085,16614319,16525568,18331453,16524883,16420584,16363805,2971042,2819242,2738036,2665853,2496144,2328317,2257302,2133219,2071611,1892842,1744509,1733971,1685103,1455400,1429662,1421174,936108,16189514,12501189,16335952,16263699,16144795,16141000,16113784,16051597,15795540,15773976,15735812,15671034,15641787,15632207,15583736,15489334,15311153,15304042,15284111,15217804,14764520,14760718,14691567,12900415,12871494,12663453,12624729,12617173,12477932,12356313,11986220,11986213,11748101,11744726,11562340,11435303,11307817,11073102,11001902,10747940,10467729,10391209,10074346,9712878,9628725,9333233,9207064,9028318,9016719,8566791,8404605,8400260,8384496,8080993,7878009,7841300,7822297,7306501,6957371,6933547,6860649,6689067,6688357,6592597,6575689,6575389,6451630,6383194,6326808,6325435,6281794,8756701,6092346,6091742,3708159,3563970,3337908,3160702,2990550,2976995,2971046 1599810,737710 2266 M10014,AA936960,AI808530,AK289422,AK290824,AL531173,BC007044,BC021674,BG567044,BT007081,BX538098,CR590161,CR591032,CR591151,CR591512,CR593074,CR593582,CR593597,CR594875,CR595094,CR596203,CR596270,CR596372,CR597173,CR597461,CR597583,CR598376,CR599176,CR600082,CR600167,CR600169,CR600784,CR601732,CR601921,CR602300,CR603330,CR603524,CR604120,CR604857,CR605967,CR606049,CR607977,CR610398,CR613445,CR613832,CR613963,CR614405,CR614460,CR614633,CR615925,CR616261,CR616498,CR616673,CR617318,CR617434,CR619370,CR619788,CR620626,CR621472,CR621479,CR621582,CR621704,CR622150,CR622544,CR623516,CR625286,CR625334,CR626056,CR606542,CR606086,CR626172,CR626427,X00086,X51473,NM_000509,NM_021870,AC107385,AF350254,CH471056,K02569 AAA52431,AAB59530,AAB59531,BAF82111,BAF83513,AAH07044,AAH21674,AAP35744,CAD98014,CAA24944,CAA35837,P02679,Q53Y18,Q7Z664,NP_000500,NP_068656,AAK19751,AAK19752,EAX04905,EAX04906,EAX04907,EAX04908,EAX04909,EAX04910,EAX04911,EAX04912,EAX04913,EAX04914,EAX04915,EAX04916,EAX04917,EAX04918,EAX04919,EAX04920,EAX04921,EAX04922,EAX04923,AAA52430 Hs.546255 GDB:119132 fibrinogen, gamma polypeptide protein-coding 1605365 FGGY FGGY carbohydrate kinase domain containing 17671248,16344560,14702039,12477932 55277 NM_018291,NM_001113411,AC093424,AL035416,AL390234,AL713859,AL954338,BX119322,CH471059,AA830864,AK001848,AK022237,AK054842,AK090568,BC000610,BC014947,BX647626,CR599846,CR607394,CR609789,CR623798,DA969344 NP_060761,NP_001106882,CAI22777,CAI18947,CAH71630,CAI22211,EAX06619,EAX06620,EAX06621,EAX06622,EAX06623,EAX06624,BAA91940,BAB13993,AAH14947,Q5VSS0,Q5VSS1,Q5VSS2,Q5VSS3,Q96C11,Q9NV20 Hs.444301 FLJ10986|RP11-242B9.1 protein-coding 737041 FGL1 fibrinogen-like 1 Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. 8390249,18039467,17805225,16996032,15489334,15063762,14981537,12624729,12477932,11470158,9373149,8125298,16189514 2267 NM_004467,NM_201552,BG565379,BG566131,BG567956,BG618053,BT006635,CR598703,CR601452,CR605214,CR609821,CR617376,CR621007,D14446,D87342,NM_147203,NM_201553,XM_001722880,AC087273,CH471080,DQ086826,AF042354,AF168954,AK225616,AK225619,AK289448,AL514837,AL531132,BC007047 NP_004458,NP_963846,AAH07047,AAP35281,BAA03336,BAB70690,Q08830,Q53YF1,Q8NG32,NP_671736,NP_963847,XP_001722932,EAW63799,EAW63800,EAW63801,EAW63802,EAW63803,AAY68216,AAM88911,BAF82137 Hs.491143 GDB:207251 HFREP1|HP-041|LFIRE1|MGC12455 fibronigen-like protein 1 protein-coding 1347654 FGL2 fibrinogen-like 2 The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. 1580863 7642106,16437596,16344560,16335952,15905589,15490304,15489334,12690205,12624729,12477932,11170750,9647217,9373149,8125298,1602151 10875 AC007000,AF104015,AF468959,CH236949,CH471091,AK222999,BC017813,BC033820,BC073986,CR610336,DB247183,Z36531,NM_006682 Q53GD2,Q8WWE4,NP_006673,AAD10825,AAL68855,EAL24202,EAW77045,BAD96719,AAH17813,AAH33820,AAH73986,CAA85298,Q14314 Hs.520989 GDB:9958436 T49|pT49 protein-coding 733253 FGR Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 2995972,3003578,17845055,16710414,16344560,15723811,15561106,15489334,15098032,14702039,12477932,12473651,12468645,12435267,12387813,12387730,12096713,11928806,11823534,11744621,11672534,11546677,11526478,11162638,11071635,10973280,10702640,10527858,10358777,10229804,10080533,10066823,9208935,8867673,8824280,8753773,8612628,8313462,7812001,7726865,7721825,7678701,7565724,7515063,3922831,3330776,3275868,3023853,2852026,2581127,2154410,1847500,1826268,1690869,1652975,1373875,1339476,12482968 2268 BQ448283,BX495937,CR600467,CR604589,DA139476,DA952771,DA960178,M19722,M27454,NM_005248,NM_001042729,NM_001042747,AL031729,CH471059,CQ834776,K03219,M12502,M19721,M63877,X52205,X52207,Z13983,Z13989,AK125143,AK130188,BC064382,BI771758 P78453,P78483,Q5TGY6,Q7KZ45,AAA52451,AAA35679,P09769,NP_005239,NP_001036194,NP_001036212,CAB62998,CAI19617,EAX07748,EAX07749,EAX07750,CAH05603,AAA60585,AAA52762,AAA52452,CAA36457,AAH64382 Hs.1422 GDB:120615 FLJ43153|MGC75096|SRC2|c-fgr|c-src2|p55c-fgr|p58c-fgr protein-coding 1350842 FGS1 FG syndrome 1 9375929 2269 GDB:9836950 1348240 FGS2 FG syndrome 2 11078572 2270 GDB:9836952 1352068 FGS3 FG syndrome 3 12239712 93985 GDB:11508771 735599 FH fumarate hydratase The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. 1598939,1580863 15724016,15489334,15334541,14632190,12772087,12612654,12477932,12177782,12021453,11865300,9635293,4018793,2759092,975868,434773,16189514,16757530,16639410,16597677,16477632,16319128,16237213,16098467,15937070,3828494,8200987,18257390,17960613,17908262,17476294,16881969,16774737 1598939 2271 NM_000143,AL359764,AL591898,AL606476,CH471098,BC003108,BC017444,BT009839,CR590170,CR594789,CR615302,M15502,U48857,U59309 NP_000134,CAI15144,CAI13908,EAW70090,EAW70091,EAW70092,EAW70093,AAH03108,AAH17444,AAP88841,AAA52483,AAD00071,AAB66354,P07954,Q5SY06,ABW03809 Hs.592490 GDB:119133 HLRCC|LRCC|MCL|MCUL1 fumarate hydratase 1 protein-coding 1605889 FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1 14702039,12477932,11572484 114827 AL833342,BC015238,BC027293,XM_934889,XM_001714211,XM_946265,AL031283,AL158174,AL391094,AB067524,AK057963,AK093300,AK093883,AK096961 BAC04913,AAH15238,Q0P6F5,Q5JYW1,Q5JYW2,Q5JYW4,Q5JYW5,Q5JYW6,Q5JYW7,Q5T2Q6,Q8N8D3,Q8N9T6,Q8NA05,Q96PV1,XP_939982,XP_001714263,XP_951358,CAI21423,CAI21424,CAI21425,CAI21426,CAI21427,CAI21428,CAI21429,BAB67830,BAC04126,BAC04242 Hs.659997 DKFZp686G2134|KIAA1937|RP3-467K16.1 protein-coding 1604560 FHDC1 FH2 domain containing 1 15138637,14702039,11214970,8889549 85462 NM_033393,AC093599,CH471056,AB051514,AK172734,BI766662,BQ082418,T83061,W80711 NP_203751,EAX04967,BAB21818,Q9C0D6 Hs.132629 KIAA1727 protein-coding 1344220 FHIT fragile histidine triad gene This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. 1302481,1580863,2289869,2289870,2289871,2289872,2289874,2289878,2289879,2289894,2289896,2289897,2289898,2289899,2289903,2289905,2289906 11768238,11731438,11085938,10706123,9824201,9671749,9583683,9576908,9537583,9366528,9323207,9290949,9261067,9012482,8824874,8661111,8620533,8598045,3864602,15182206,15080505,15080495,15073846,15060557,15044096,15026336,14991669,14760383,14719099,14719066,14702039,14675322,14660280,14630947,14569398,14566838,12969785,12964015,12926121,12893195,12890991,12839965,12833632,12800227,12698186,12697969,12627509,12529969,12483524,12477932,12452072,12419158,12362975,12353263,12231533,12177781,12169206,12119013,12090476,12067991,12057912,12048684,12007194,11915181,11902576,11891319,11809703,11788890,8794732,15007172,18426086,18338497,18338496,18221322,18162546,18097574,18091387,18077326,18038314,18006149,17846126,17712558,17694439,17671701,17609851,17596760,17548701,17393360,17382535,17374991,17373735,17359554,17348444,17328863,17164758,17142325,17137614,17119051,16990010,16864578,16773697,16763940,16740775,16733051,16699861,16698048,16570269,16533421,16513840,16359767,16344560,16242161,16231322,16217683,16189514,16115913,15998374,15935551,15929169,15902282,15835917,15798093,15674328,15633221,15569992,15489891,15489334,15480422,15384174,15361849,15328196,15246872,15231689,15219888 1302481,2289869,2289870,2289871,2289872,2289874,2289878,2289879,2289894,2289896,2289897,2289898,2289899,2289903,2289905,2289906 2272 NM_002012,NG_007551,AC093418,AC093556,AC096917,AC097357,AC098480,AC099536,AC099780,AC104164,AC132808,AC138071,AF023460,AF152363,AF152364,AF152365,AY625256,CH471055,DQ416126,DQ666920,DQ666923,DQ768458,U06118,U39799,U39800,U39801,U40401,U76263,U76264,U76265,U76266,U76267,U76268,U76269,U76270,U76271,U76272,U85047,U88866,AK127931,AK289824,BC032336,BC057223,DA239143,DQ120721,U46922 NP_002003,AAB84098,AAT37530,EAW65393,EAW65394,ABD93871,ABG02273,ABG02275,ABG81420,AAB52539,AAB53793,BAF82513,AAH32336,AAZ23623,AAA99013,O00298,P49789,Q0MQR8,Q0PUW1,Q194U8,Q194V0,Q1WAB3,Q45QG9,Q71VB2,ABM82501,ABM85695 Hs.655995,Hs.709558 GDB:4250809 AP3Aase|FRA3B protein-coding 1342641 FHL1 four and a half LIM domains 1 LIM proteins, named for 'LIN11, ISL1, and MEC3,' are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM] 1580798,1580863 7626119,18274675,18179901,18179888,18073142,17589823,16407297,15772651,15710417,15610731,15489334,14999091,14702039,12917103,12665801,12477932,12432079,11400158,10524257,10480922,10352231,10049693,9929984,9714789,9373149,8753811,8125298 1580798 2273 AF110763,AL078638,CH471150,AF063002,AF098518,AF220153,AK091702,AK094024,AK122708,AK223299,AK289411,BC010998,NM_001449,BC088369,CR456974,CR605478,CR611627,CR620814,CR621059,U29538,U60115,U60118 NP_001440,AAD21579,CAC18881,CAI41054,CAI41055,CAI41056,CAI41057,CAI41058,CAI41059,CAI41060,CAI41061,CAI41062,EAW88476,EAW88477,EAW88478,EAW88479,AAC72886,AAC72390,AAF32351,BAD97019,BAF82100,AAH10998,AAH88369,CAG33255,AAC35421,AAC52021,AAC50795,Q13642,Q53FI7,Q5JXH7,Q5JXH8,Q5JXH9,Q5JXI0,Q5JXI2,Q5JXI3,Q5JXI7,Q5JXI8,Q6IB30,ABZ92387 Hs.435369 GDB:6874904 FHL1B|KYO-T|MGC111107|SLIM1|XMPMA|bA535K18.1 protein-coding 1350947 FHL2 four and a half LIM domains 2 LIM proteins contain a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM] 1580863 11135358,11124707,11062252,11046156,11001931,10906324,10654935,10649446,9573400,8753811,14729955,14986435,15666801,12411495,12358155,15610731,11161712,15572661,18255255,9150430,17975004,17682292,17416352,17383428,17192406,17145880,17093190,16652157,16378916,16355270,16343438,16311053,15692560,15572674,15489334,15453830,15161045,15117962,14680945,14550570,12477932,12466281,12432079,12145280,12067710,11821401,11813260 2274 NM_001450,NM_201555,NM_201557,NM_001039492,AB038794,AC012360,AC068273,AC108058,CH471127,AA758053,AB158503,AY634685,BC012742,BC014397,BC036085,BC093049,BI092736,BT006960,BX340370,CB989635,CF552311,CR457437,CR594847,CR595150,CR604413,CR605289,CR606106,CR608826,CR615688,CR615852,CR616017,CR617985,CR623221,CR624743,CR624937,CR626389,CR626700,CR936682,CR936799,DQ266432,DQ307067,L42176,U29332,U60117 NP_001441,NP_963849,NP_963851,NP_001034581,BAA92253,AAY15012,AAY14896,EAX01758,EAX01759,EAX01760,BAD69710,AAV35468,AAH12742,AAH14397,AAH36085,AAH93049,AAP35606,CAG33718,ABB73038,ABC25549,AAA85333,AAC52073,AAC50794,Q14192,Q2I5I4,Q2TSB7,Q2XQU9,Q4G0X1,Q53QP3,Q53T40,Q5TM15,Q6I9R8,ABM87334,ABW03875 Hs.443687 GDB:6874905 AAG11|DRAL|SLIM3 protein-coding 1316216 FHL3 four and a half LIM domains 3 LIM proteins are defined by the possession of a highly conserved double zinc finger motif called the LIM domain.[supplied by OMIM] 1580863 10049693,17389685,15453830,15117962,14729955,12704194,12681290,12556451,12477932,11135358,10226657,8753811,16189514,15610731 2275 AL603790,CH471059,AF133732,AK290641,BC001351,BC011697,BC014501,BT007052,BX384389,CR457425,CR590048,CR590698,CR592415,CR597013,CR599922,CR601712,CR604590,CR604640,CR604728,CR607994,CR613498,CR616103,CR617934,CR618213,CR619025,NM_004468,CR620303,CR622019,CR622484,CR623890,CR625653,U60116 NP_004459,CAH69931,EAX07301,EAX07302,AAF61376,BAF83330,AAH01351,AAH11697,AAH14501,AAP35701,CAG33706,AAC04466,Q13643,Q6I9T0,Q96C98,Q9BVA2,Q9P100,ABM92212,ABM84689,ABM86964 Hs.57687 GDB:6874906 MGC19547|MGC23614|MGC8696|SLIM2 protein-coding 1316022 FHL5 four and a half LIM domains 5 The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. 17368652,16713569,16687568,16189514,15761153,15610731,15489334,14702039,14574404,12493914,12477932,12039695,11420126,11327716,11046156,10086359,9373149,8125298 9457 NM_020482,AL132776,CH471051,CS300692,AF278541,AI425084,AI784680,AK057611,AK058175,AK223539,BC011015,BC021723,BC029490 NP_065228,CAB86657,CAI20400,EAW48503,EAW48504,EAW48505,CAK32356,AAF85978,BAD97259,AAH21723,AAH29490,Q5TD97,ABM84588,ABM86580 Hs.632608 ACT|FLJ33049|KIAA0776|RP3-393D12.2|dJ393D12.2 protein-coding 1315466 FHOD1 formin homology 2 domain containing 1 This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. 1580863 12477932,11590143,14667819,15231747,10352228,18239683,17909294,17013756,16361249,16112087,15878344,15642356,15489334,15302935,15146197,15138285,15095401,15051728,15010865,14576350,12677009,12665801,12665555 29109 NM_013241,AC040160,CH471092,AA609867,AB041046,AB209584,AF113615,AK025992,AY192154,BC033084,CN302043,CR612089,CR620559 Q9Y613,NP_037373,EAW83109,EAW83110,EAW83111,EAW83112,EAW83113,BAD06250,BAD92821,AAD39906,AAO38757,AAH33084 Hs.95231 GDB:11506022 FHOS protein-coding 1314439 FHOD3 formin homology 2 domain containing 3 Proteins that contain formin (FMN; MIM 136535) homology (FH) domains, such as FHOD3, play a role in regulation of the actin cytoskeleton (Kanaya et al., 2005 [PubMed 15966898]).[supplied by OMIM] 737633 15966898,15010865,14702039,12477932,11214970 737633 80206 NM_025135,AC023043,AC055840,AC090333,AC131053,CH471088,AB051482,AB084087,AK025950,AK026370,AK091899,AK128053,AL834480,BC031518,BC041040,BC050670,BC058897,BC081563 NP_079411,EAX01379,EAX01380,EAX01381,EAX01382,BAB21786,BAC67014,BAB15292,BAB15463,BAC87252,CAD39139,AAH50670,AAH81563,Q2V2M9,AAI56315,AAI57094 Hs.436636 FHOS2|Formactin2 protein-coding 1319244 FIBCD1 fibrinogen C domain containing 1 737633 14702039,12975309,12477932 737633 84929 NM_032843,AL161733,CH471090,AK027716,AK292489,AY358311,BC032953,BC112892 NP_116232,CAM45758,CAM45759,CAM45760,CAM45761,EAW87950,EAW87951,EAW87952,EAW87953,BAB55319,BAF85178,AAQ88678,AAH32953,AAI12893,Q8N539 Hs.133205 FLJ14810 protein-coding 1606090 FIBIN fin bud initiation factor 11827452,17196583,16303743,12477932 387758 NM_203371,AC016450,CH471064,CS051379,AA452778,AB236892,AI755024,AK075535,BC026873,BQ882486,CB962364,CR602973,D79377 NP_976249,EAW68292,CAI72184,BAF42654,BAC11678,AAH26873,Q8TAL6 Hs.32478 MGC24932 protein-coding 1353732 FIBP fibroblast growth factor (acidic) intracellular binding protein Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. 1580863 17353931,9806903,15489334,12477932,12145206,11509569,11104667,9373149,8125298 9158 NM_198897,NM_004214,AF250392,AP001201,AP006287,CH471076,DQ388430,AF010187,AF171944,AF171945,AF171946,AF250391,AI925637,AK223438,AK289562,BC014388,BC017448,CD109589,CR456749,CR590625,CR593925,CR604063,CR604159,CR611951,CR614878,CR619573,CR620055,CR622949 NP_942600,NP_004205,AAG01397,EAW74465,EAW74466,EAW74467,ABD48957,AAC97140,AAD51694,AAD51695,AAD51696,AAG01396,BAD97158,BAF82251,AAH14388,AAH17448,CAG33030,O43427,Q27Q85,Q53F51,ABW03878,ABW03566 Hs.7768 GDB:9955136 FGFIBP|FIBP-1 protein-coding 1602333 FICD FIC domain containing 9700202,12975309,12477932 11153 NM_007076,AC010206,CH471054,AF049611,AK000014,AK026074,AY358992,BC001342,BC064629 NP_009007,EAW97813,EAW97814,EAW97815,AAC26847,AAQ89351,AAH01342,Q9BVA6,ABM82713,ABW03426 Hs.661891 HIP13|HYPE|MGC5623|UNQ3041 protein-coding 1322801 FIG4 FIG4 homolog (S. cerevisiae) 17572665,15489334,14574404,12805586,12477932,11274189,9373149,9039502,8125298 9896 NM_014845,AL133472,AL512303,CH471051,AA815086,AA946705,AI476769,AK222732,AK291671,BC041338,BM016965,CR624197,D87464 NP_055660,CAI19669,CAI19670,CAI19671,CAI42493,CAI42494,CAI42495,EAW48332,BAD96452,BAF84360,AAH41338,BAA13403,Q5JRV4,Q5TCS4,Q5TCS5,Q92562 Hs.529959 KIAA0274|RP1-249I4.1|SAC3|dJ249I4.1|hSac3 protein-coding 731830 FIGF c-fos induced growth factor (vascular endothelial growth factor D) The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial cell growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. 1580863,704404,1334463 9479493,9684805,18199540,17970036,17931169,17926187,17917969,17676294,17442484,17242158,17034294,16924525,16816121,16624815,16570043,16467091,16152591,16049374,15803188,15701844,15693535,15623620,15590642,15489334,12963694,12920128,12759540,12714562,12610509,12576440,12477932,10542248,9435229,9373149,9205122,8876195,8125298 1334463 2277 NM_004469,AC095351,CH471074,CQ858318,CS023802,CS037005,CS067232,CS148545,CS172369,CS172815,U69570,Y12864,Y12865,Y12866,Y12867,Y12868,Y12869,Y12870,AJ000185,AK223160,BC027948,D89630,Y12863 NP_004460,EAW98885,CAH23420,CAI59113,CAI63839,CAI84579,CAJ29849,CAJ32892,CAJ32904,CAA73371,CAA03942,BAD96880,AAH27948,BAA24264,CAA73370,O43915,Q53FX1 Hs.11392 GDB:5967153 VEGF-D|VEGFD protein-coding 1602165 FIGLA folliculogenesis specific basic helix-loop-helix 15044608,15489334,12489526,12477932,12468641 344018 NM_001004311,AC007395,CH471053,AY541030,BC039536 NP_001004311,EAW99795,EAW99796,EAW99797,AAS48452,Q6QHK4,AAI46288,AAI48799 Hs.407636 protein-coding 1317798 FIGN fidgetin 15815621,14702039,11017077 55137 NM_018086,AC092684,AC093727,AK001267,AK025747,AK125324,BX649105 NP_060556,AAX81992,BAA91590,BAB15231,CAI45980,Q5HY92,AAI48650,AAI56959 Hs.593650 GDB:10450325 protein-coding 1316113 FIGNL1 fidgetin-like 1 16344560,14702039,12853948,12690205,12477932 63979 NM_001042762,NM_022116,AC018705,CH236955,CH471128,AK023142,AK023411,AK027537,AL834387,BC027856,BC051867,DA798223,DA812999,DB067077 NP_001036227,NP_071399,AAS01996,EAL23899,EAW60975,EAW60976,BAB14426,BAB14567,CAD39050,AAH27856,AAH51867,Q6PIW4 Hs.137516 GDB:11508610 protein-coding 1603328 FIGNL2 fidgetin-like 2 11017077 401720 NM_001013690,AC068987,AK129980 NP_001013712,BAC85267,Q6ZP58,AAI56213 Hs.648218 similar to fidgetin protein-coding 1347231 FILIP1 filamin A interacting protein 1 14702039,14574404,12055638,11230166,11076863,10574462,15302935,16381901,15489336 27145 AL356057,AL445465,AL589649,CH471051,AB033101,AB086011,AK001570,AK027705,AK097021,AK290232,AL832009,BC136444,NM_015687,BX647178 NP_056502,CAH73614,CAH73615,CAH71818,CAH71820,EAW48737,EAW48738,EAW48739,BAA86589,BAC77067,BAA91763,BAB55310,BAC04928,BAF82921,CAD89912,AAI36445,Q05C39,Q0JT88,Q0JUH8,Q7Z7B0,CAL37833,CAL38276 Hs.696158 FILIP|KIAA1275 protein-coding 1604834 FILIP1L filamin A interacting protein 1-like 15935955,15342556,14702039,12477932,8314147 11259 NM_001042459,NM_014890,AC024938,AC069222,AC117419,AC129803,AC130887,CH471052,AF329092,AF514867,AF514868,AF514869,AK096195,AY642382,BC017987,BC020941,BC027860,NM_182909,BP233250,CR613746,EU531865,EU531866,U53445 NP_878913,NP_001035924,NP_055705,EAW79833,EAW79834,AAN16206,AAQ08177,AAQ08178,AAQ08179,AAV34207,AAH20941,AAH27860,ACB37436,ACB37437,AAA98972,Q4L180 Hs.104672 DOC-1|DOC1|GIP90 protein-coding 1342783 FIM1 Friend-murine leukemia virus integration site 1 homolog 1300187 1300187 2278 GDB:119911 1351521 FIM3 Friend-murine leukemia virus integration site 3 homolog 1300187 1300187 2279 GDB:119134 1319628 FIP1L1 FIP1 like 1 (S. cerevisiae) 17591942,17377585,17299092,17261495,17081983,16964243,16690743,16502585,16381901,16189514,15767428,15489336,15489334,15302935,15284118,14749727,14702039,14630792,12842979,12808148,12660384,12477932,11230166,11076863,14729963 81608 NM_030917,AC058822,AC098821,CH471057,CQ834882,AF161429,AK090938,AK123992,AL136910,AY366510,BC011543,BC017724,BC024016,BC026724,BC052959,BC110383,CR593836,CR595922,CR606214,CR621336 NP_112179,EAX05445,EAX05446,EAX05447,EAX05448,EAX05449,CAH05656,AAF28989,BAC03551,CAB66844,AAQ88277,AAH11543,AAH17724,AAH24016,AAH52959,AAI10384,Q0JV24,Q6UN15,Q8N298,Q9P071,CAL37636 Hs.518760 DKFZp586K0717|FLJ33619|Rhe protein-coding 1315413 FIS1 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM] 1580863 12861026,16118244,16107562,14996942,14561759,17884824,17545159,17408615,16914522,16883569,16010987,15489334,15356267,15024001,14705031,14623186,12853948,12783892,12477932,10810093 51024 NM_016068,AC006329,CH471197,AF151893,BC003540,BC009428,BI836529,CR591793,CR624091 NP_057152,AAP22366,EAW50212,EAW50213,EAW50214,AAD34130,AAH03540,AAH09428,Q9Y3D6 Hs.423968 CGI-135|TTC11 tetratricopeptide repeat domain 11 protein-coding 1603355 FIT1 fat-inducing transcript 1 FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM] 18160536,12477932 161247 NM_203402,AL136295,CH471078,BC042179,BC139911,BI114004,BQ574746,BX347190 NP_981947,EAW66107,AAH42179,AAI39912 Hs.128060 MGC46490 similar to cg10671-like protein-coding 1605920 FIZ1 FLT3-interacting zinc finger 1 This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. 17141759,14702039,12566383,12477932,10409713 84922 NM_032836,AC008735,CH471135,AA864884,AK027674,AK160385,BC020368,BC132777,CR596546 NP_116225,EAW72391,EAW72392,BAB55286,BAD18728,AAI32778,Q96SL8 Hs.515617 FLJ00416|FLJ14768|ZNF798 protein-coding 1314537 FJX1 four jointed box 1 (Drosophila) The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. 1580863 12477932,10568747,10072791,7647465 24147 NM_014344,AL135934,CH471064,L37769,AJ245599,AK026069,AK098459,BC049171,BC071898 NP_055159,EAW68138,CAB53246,AAH49171,AAH71898,Q86VR8 Hs.39384 GDB:11506026 FLJ22416|FLJ25593 protein-coding 1319279 FKBP10 FK506 binding protein 10, 65 kDa The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase family. It is located in endoplasmic reticulum and acts as molecular chaperones. Two alternatively spliced variants, which encode different isoform, are reported. 1580863 16396496,16303743,15489334,14702039,12754519,12477932,12036304,11071917,15994554 60681 CR621305,NM_021939,AC091172,CH471152,AB045981,AF337909,AK025694,AK025874,AK092042,AK092708,AK172811,AL832985,BC016467,BX537452,CR590563,CR606502 NP_068758,EAW60767,EAW60768,EAW60769,EAW60770,BAB20974,AAM15770,BAB15220,BAB15266,BAC03954,BAD18781,CAH56332,AAH16467,CAD97695,Q658U4,Q6ZME7,Q8NAG5,Q96AY3,Q9H6J3,ABM85920 Hs.463035 GDB:11506028 FKBP65|FLJ22041|hFKBP65 protein-coding 1314619 FKBP11 FK506 binding protein 11, 19 kDa FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM] 1580863 16596453,15489334,12975309,12477932,12036304 51303 NM_016594,AC073610,CH471111,AF238079,AY358998,BC027973,BC048292 NP_057678,EAW58022,EAW58023,AAF63478,AAQ89357,AAH27973,AAH48292,Q86SR8,Q9NYL4,ABM82983,ABM86177 Hs.655103 GDB:11508389 FKBP19|MGC54182 protein-coding 1323300 FKBP14 FK506 binding protein 14, 22 kDa 1580863 15489334,15340161,14702039,12975309,12690205,12477932,12036304 55033 NM_017946,AACC02000087,AC007285,CH471073,AK000738,AY358643,BC005206 NP_060416,EAL24457,EAW93929,BAA91351,AAQ89006,AAH05206,Q9NWM8,ABM83451,ABM86663 Hs.571333 GDB:11506030 FKBP22|FLJ20731 protein-coding 1312480 FKBP15 FK506 binding protein 15, 133kDa 16756961,16344560,12477932,9734811 23307 BQ646813,DA238568,DC321217,NM_015258,AL449105,AL449305,AB014574,BC009609,BC026048,BC077732 Q5T1M5,AAI66677,NP_056073,CAI95402,CAI10963,CAI10964,BAA31649,AAH09609,AAH77732 Hs.522351 GDB:9955893 FKBP133|KIAA0674 protein-coding 737539 FKBP1A FK506 binding protein 1A, 12kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels including the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. There is evidence of multiple alternatively spliced transcript variants for this gene, but the full length nature of some variants has not been determined. 1580388,704404 12604780,7518616,12761501,1930186,18029417,17962721,17872463,17397867,16908189,16720724,16410343,16122887,16036432,15992823,15489334,15199065,14970260,12850152,12812497,12704193,12665801,12600203,12477932,12417722,11780052,11598113,11438723,11322937,11279144,11245643,11237759,11171121,11164950,10852943,10656803,10515881,9871618,9461216,9346894,8955134,8662507,8521476,7821789,7682113,7678431,7543369,7541044,7541038,7529739,2477715,1716149,1713687,1709363,1709302,1709301,1701173,1696686,1695378,1375171,1374404,1281998,12181673,9546659,16189514,15467718,15268862,7791754,15994554,15514157,15761148,15734648 1580388 2280 NM_000801,NM_054014,AB190794,AL109658,AL136531,CH471133,CS081479,M80199,M80204,M92423,M93060,X55741,AB241123,AB241125,AF205192,BC001925,BC005147,BC119732,BC119733,BT007066,CR407613,CR542168,CR590078,CR591667,CR592860,CR593538,CR595798,CR596571,CR597073,CR598590,CR599015,CR599932,CR600891,CR600975,CR602019,CR602858,CR603630,CR609261,CR609321,CR610147,CR610528,CR612762,CR615284,CR617035,CR617939,CR618348,CR619636,D28444,M34539,X52220 NP_000792,NP_463460,BAE44301,CAI22727,CAI22728,CAH72381,CAH72382,EAX10633,EAX10634,EAX10635,CAI95951,AAA58472,AAA58476,CAA39272,BAE94235,BAE94237,AAF17608,AAH01925,AAH05147,AAI19733,AAI19734,AAP35729,CAG28541,CAG46965,BAA05810,AAA35844,CAA36462,P62942,Q0VDC5,Q0VDC6,Q1JUQ3,Q1JUQ5,Q3V793,Q5W0X3,Q9UH88,ABM82745 Hs.471933 GDB:128854 FKBP-12|FKBP1|FKBP12|FKBP12C|PKC12|PKCI2|PPIASE fk506-binding protein 1a protein-coding 735951 FKBP1B FK506 binding protein 1B, 12.6 kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. 1580387,704404 17921453,17313373,17200109,16122887,15972811,15749201,15591045,15497458,15489334,14616768,12754204,12477932,12459180,12446682,12443530,11322937,11237759,10830164,10713512,9013543,7592869,7513996,15351706,15994554 1580387 2281 S69800,S69815,NM_054033,NM_004116,AB190793,AC008073,CH471053,AF322070,BC002614,BC050998,CR614690,CR616275,CR626535,D38037,L37086 AAB30685,AAB30684,P68106,Q53TM2,NP_473374,NP_004107,BAE44300,AAY14663,EAX00768,EAX00769,EAX00770,AAK11191,AAH02614,BAA07232,AAC37581 Hs.407482 GDB:362749 FKBP12.6|FKBP1L|OTK4|PKBP1L|PPIase fk506 binding protein 1b protein-coding 1351709 FKBP1P1 FK506 binding protein 1 pseudogene 1 1716149 2282 NG_006207,AC010522,M80196,M80201 GDB:133970 FKBP12 pseudo 1343039 FKBP1P2 FK506 binding protein 1 pseudogene 2 1716149 2283 M80197,M80202 GDB:133971 FKBP12 pseudo 1351220 FKBP1P3 FK506 binding protein 1 pseudogene 3 1716149 2284 NG_006209,AL138686,M80200 GDB:133973 FKBP12 pseudo 1346929 FKBP1P4 FK506 binding protein 1 pseudogene 4 1716149 2285 NG_006255,AC108751,M80198,M80203 GDB:133972 FKBP12 pseudo 1349147 FKBP2 FK506 binding protein 2, 13kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. This gene has two alternatively spliced transcript variants that encode the same isoform. Multiple polyadenylation sites have been described for this gene, but the full length nature of this gene has not been determined. 1580863 7526846,7505249,1281998,14657499,16189514,15994554,1713687,16713569,15489334,12606707,12477932,9531554,8373365 2286 NM_004470,NM_057092,AP001453,CH471076,L18980,BC003384,BC091475,BT009861,CR407636,M65128,M75099 NP_004461,NP_476433,EAW74224,EAW74225,AAH03384,AAH91475,AAP88863,CAG28564,AAA58473,AAA36563,P26885,Q53XJ5,ABM85057 Hs.227729 GDB:133728 FKBP-13|PPIase protein-coding 1312751 FKBP3 FK506 binding protein 3, 25kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. 1580863 1374240,15489334,12477932,12392168,11532945,9373149,8125298,8012384,7689229,1376117,1375932,12920132,16189514,15994554 2287 CR623899,M96256,CR613618,NM_002013,NG_007417,AL121809,CH471078,Z58738,AK222993,BC016288,BC020809,BT006904,CR590899,CR599673,CR610696 AAA58471,Q00688,Q53GD8,ABM81660,ABM82058,ABM84832,ABM85237,NP_002004,EAW65785,BAD96713,AAH16288,AAH20809,AAP35550 Hs.509226 GDB:132611 FKBP-25|PPIase protein-coding 733402 FKBP4 FK506 binding protein 4, 59kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. This gene has been found to have multiple polyadenylation sites. 1580863 1376003,2378870,1279700,18162540,17717070,17343741,16964243,16916647,16873445,16352746,15831525,15761153,15591061,15509512,15489334,15159550,15133031,12782134,12606580,12603528,12477932,11751894,11583998,11533160,11322937,11278753,11164950,10714679,10051602,9501323,9405642,9392437,8955134,8341706,1383226,1371107,17353931,16189514,15994554 2288 AC005841,CH471116,AK024694,BC001786,BC002887,BC007924,CR591979,CR598174,CR602781,CR611172,NM_002014,CR616201,M88279 NP_002005,EAW88889,EAW88890,AAH01786,AAH02887,AAH07924,AAA36111,Q02790,ABM84594,ABM86726 Hs.524183,Hs.598828 GDB:134670 FKBP52|FKBP59|HBI|Hsp56|PPIase|p52 fk506 binding protein 4 (59 kda) protein-coding 1319338 FKBP5 FK506 binding protein 5 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. 1580863 9001212,9660753,18349090,18320068,18191112,18180755,17960574,17721930,17081296,16421106,16381901,16210365,16088328,15591061,15565110,15489336,15489334,15302935,15089760,14743216,12746298,12538866,12477932,12351405,11751894,11350175,11322937,11230166,11076863,9373149,9125197,8603045,8125298,7693698,7688746,7542743,9222609,15994554 2289 NM_004117,AL033519,AL590400,CH471081,AB209893,AF194172,AK222807,AL122066,BC042605,BC111050,BX647390,CR620368,U42031,U71321,X97300 NP_004108,CAI20256,EAX03841,EAX03842,BAD93130,AAL54872,AAH42605,AAI11051,AAA86245,AAC51189,Q13451,Q2TA84,Q53GX4,Q59EB8,Q5TGM6,CAL38619,BAD96527 Hs.407190 GDB:5886492 FKBP51|FKBP54|MGC111006|P54|PPIase|Ptg-10 protein-coding 1318976 FKBP6 FK506 binding protein 6, 36kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. This gene is found to be deleted in Williams syndrome. 1580863,1582483 9782077,17307919,16344560,16227348,16189514,15696470,15489334,12477932,11322937,10631136 1582483 8468 NM_003602,AC005049,AC073841,CH471200,AF038847,BC036817,DB033483,DB525126 NP_003593,EAW69685,AAC64249,AAH36817,O75344,Q7Z4T4,Q8WW08,ABW03684,ABW03338 Hs.661266 GDB:9955215 FKBP36|MGC87179|PPIase protein-coding 1313236 FKBP7 FK506 binding protein 7 The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. 1580863 15489334,12975309,12477932,12036304,9806833 51661 NM_181342,AC009948,CH471058,AF092137,AF100751,AK292145,AY353086,AY359015,BC009711,BF210667,BQ003190,BT007122 NP_851939,AAX88883,EAX11027,EAX11028,EAX11029,EAX11030,EAX11031,EAX11032,AAD40379,AAD43015,BAF84834,AAQ57208,AAQ89374,AAH09711,AAP35786,Q4ZG70,Q6V3B2,Q9Y680 Hs.410378 GDB:10450520 FKBP23|MGC9420|PPIase protein-coding 1318578 FKBP8 FK506 binding protein 8, 38kDa The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. 1580863 10197430,17991864,17942410,17573772,17569659,17353276,17090549,17024179,16844119,16604427,16381901,16341674,16176796,15990872,15757646,15733859,15592455,15489336,15489334,15105374,15057824,12894220,12510191,12477932,11230166,11076863,8889548,7543869,16189514 23770 NM_012181,AC005387,CH471106,AK026952,AL042208,AL555689,AY225339,AY278607,BC009966,BM719161,BM790404,BQ953871,BX538124,BX647405,BX647720,CR590272,CR592361,CR593842,CR597754,CR598306,CR598878,CR604123,CR610429,CR611836,CR615174,CR616183,CR621530,CR622437,CR623071,CR625427,CR625801,CR626588,L37033 NP_036313,AAC28753,EAW84709,EAW84710,EAW84711,AAO39020,AAQ84561,AAH09966,CAD98028,AAB00102,Q0JUM8,Q14318,Q53GU3,Q7Z349,Q86YK6,CAL37783,ABM84011,ABM87352 Hs.173464 GDB:10795304 FKBP38|FKBPr38 protein-coding 1354428 FKBP9 FK506 binding protein 9, 63 kDa 1580863 16303743,15489334,12754519,12690205,12477932,12036304,10524204 11328 NM_007270,AACC02000103,AC083863,AB209352,AF089745,AK075331,AK128597,AL050187,BC007443,BC064418,BC072422,BC101723,BC112053,CR615769,CR623093 NP_009201,EAL24461,EAL24462,BAD92589,AAC78853,AAH07443,AAH64418,AAH72422,AAI01724,AAI12054,O95302,Q59FV7 Hs.103934 GDB:9957969 DKFZp586B1723|FKBP60|FKBP63|MGC126772|MGC138258|PPIase protein-coding 1350622 FKBP9L FK506 binding protein 9-like 737633 12477932,9847074 737633 360132 NR_003949,AC091812,AK289438,BC011872,BC099918,BM041005 AAQ93369,BAF82127,AAH11872,AAH99918,Q75LS8 Hs.446691 FKBP9|MGC20531 pseudo 1353952 FKBPL FK506 binding protein like The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. 1580863 10521921,15664193,12477932,10866283,9056895 63943 NM_022110,AF139374,AL662828,AL662884,CH471081,CR925796,U89337,AK027119,AK291418,BC004168,BC011966,CR457374 NP_071393,AAF67785,CAI17420,CAI18338,EAX03586,EAX03587,CAQ10265,AAF04864,BAB15663,BAF84107,AAH04168,AAH11966,ABM82682,ABM85864,CAG33655,Q9UIM3 Hs.520042 GDB:11500766 DIR1|NG7|WISP39 protein-coding 1314133 FKRP fukutin related protein 1358626,1598944,1580863 8889548,17952692,17446099,17351538,17336067,17113772,17055682,16344560,16344347,16055117,15883334,15833432,15580560,15574464,15489334,15213246,15121789,14702039,14652796,14523375,12707439,12666124,12654965,12477932,11801394,11741828,11592034,11071142,11053680,10198165 1358626,1598944 79147 NM_001039885,NM_024301,AC008622,CH471126,AJ314847,AK022638,AK095497,AK291282,BC002612,BM979509,DA123579,DB090073,DN999716 NP_001034974,NP_077277,EAW57444,EAW57445,CAC85633,BAB14146,BAF83971,AAH02612,Q9H9S5,ABM84531,ABM86053 Hs.515493 FLJ12576|LGMD2I|MDC1C|MGC2991 protein-coding 1602215 FKSG2 apoptosis inhibitor 59347 NM_021631,AC138136,CH471080,AF300871 NP_067644,EAW63376,AAG17927,Q9HAU6 Hs.651853 protein-coding 1603190 FKSG24 hypothetical protein MGC12972 14702039,12477932 84769 NM_032683,AC068499,CH471106,AF320622,AF416712,AK094091,BC005064,BC028146,BC093008,BG740168,CR623978 NP_116072,EAW84667,EAW84668,EAW84669,EAW84670,EAW84671,AAL30173,AAL16806,AAH05064,AAH93008,Q567V2 Hs.515254 MGC110861|MGC12972 protein-coding 1606361 FKSG30 kappa-actin 16824795 440915 XM_001723912,XM_001724405,XM_001723159,AC093838,AY970378,AY970386,AY970387,AY970388,AY970392,AY970446,AY970447,AY970454,AY970455,AY970456,AY970458,AY970461,AY970462,AY970463,AY970464,AY970480,AY014272 XP_001723964,XP_001724457,XP_001723211,AAX82187,AAX82195,AAX82196,AAX82197,AAX82201,AAX82255,AAX82256,AAX82261,AAX82262,AAX82263,AAX82265,AAX82268,AAX82269,AAX82270,AAX82271,AAX82286,AAG50355,Q562N5,Q562Q0,Q562Q1,Q562Q2,Q562Q3,Q562Q6,Q562Q8,Q562Q9,Q562R0,Q562R5,Q562R6,Q562X0,Q562X2,Q562X4,Q562X6,Q562Y4,Q9BYX7 Hs.516402 ACT protein-coding 1605020 FKSG43 FKSG43 gene 83957 NG_004716,AL050306,AF334945,BC128150 AAG50294,AAI28151 Hs.652967 MGC149236 pseudo 1605023 FKSG83 FKSG83 12477932 83954 NM_032030,AL021808,CH471081,AF336874,AF352327,BC107050 NP_114419,EAX03091,EAX03092,AAK21300,AAK32715,AAI07051,Q3KNW7,Q7LBC9,Q9BX81 Hs.326753 MGC129573 protein-coding 1320791 FKTN fukutin The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Two transcript variants encoding the same protein have been found for this gene. 1598929,1580863 9690476,18177472,17878207,17319799,17044012,17036286,17005282,16344560,15489334,15213246,15164053,15103718,14627679,12601708,12477932,12471058,12172906,11445638,11165248,11115853,10817652,10734260,10545611,10067123,9119396,8275093 1598929 2218 NM_001079802,NM_006731,AB038490,AL158070,CH471105,AB008226,AL601876,BC058842,BC101808,BC112038,BC117699,BC117700,DA917113 NP_001073270,NP_006722,BAA94082,EAW59001,BAA32000,AAI01809,AAI12039,AAI17700,AAI17701,O75072,Q149M7,Q5JUN2 Hs.55777 GDB:250412 CMD1X|FCMD|LGMD2M|MGC126857|MGC134944|MGC134945|MGC138243 protein-coding 1604288 FLAD1 FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 16643857,16189514,14702039,12477932,9110174,8619474 80308 NM_025207,NM_201398,AL451085,CH471121,AF218022,AF481877,AF520568,AK025979,AK090542,BC011378,BC014012,BC020253,BC021096,BC032323,BI919061,CR591714,CR596936,CR599772,CR602509,CR606793,CR617327,CR622894,CR623743,CR625722,DQ458779,U79241 NP_079483,NP_958800,CAI13258,CAI13259,CAI13260,CAI13261,CAI13262,CAI13263,CAI13264,EAW53153,EAW53154,EAW53155,EAW53156,EAW53157,EAW53158,EAW53159,AAG17264,AAO49318,AAM77338,AAH11378,AAH14012,AAH20253,AAH21096,AAH32323,ABE65383,AAB50199,Q5T190,Q5T191,Q5T196,Q8NFF5,ABM81905,ABM85078 Hs.118666 FAD1|FADS|MGC31803|MGC40255|PP591|RP11-307C12.7 protein-coding 1604509 FLCN folliculin This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 18206534,17496196,17149965,17028174,16870330,16636660,16344560,15956655,15852235,15657874,15579035,15489334,14961590,14702039,14627671,12907635,12843323,12746401,12477932,12471204,12204536,11533913,11526515 201163 NM_144997,NM_144606,AC055811,CH471196,AF517523,AK126951,AK127912,AK309336,AL831885,BC015687,BC015725,BQ423946,CX759825,DA461022,DA944035 NP_659434,NP_653207,EAW55715,EAW55716,AAM94803,BAC86760,BAC87186,CAD38565,AAH15687,AAH15725,Q8NFG4 Hs.513975 BHD|DKFZp547A118|FLCL|FLJ45004|FLJ99377|MGC17998|MGC23445 protein-coding 737239 FLG filaggrin Profilaggrin is a major protein component of the keratohyalin granules of mammalian epidermis. It is initially expressed as a large polyprotein precursor which is subsequently proteolytically processed into individual functional filaggrin molecules. The filaggrins show wide species variations and their aberrant expression has been implicated in a number of keratinizing disorders (Baden et al., 1974 [PubMed 4132224]; Holbrook et al., 1982 [PubMed 6174530]; Sybert et al., 1985 [PubMed 2579164]).[supplied by OMIM] 1598947,1580863 16261374,15675958,12838398,12230510,11380615,9886436,8780679,6174530,4132224,2579164,2248957,2043621,1429717,8270625,7499312,16550169,16444271,8417356,2740331,12850301,18396323,18325573,18313126,18307574,18239616,18200065,18193244,18176743,18073125,18068483,18032906,18007582,18005116,17989887,17980411,17970802,17704064,17684752,17657246,17581619,17531295,17502856,17417636,17410197,17380114,17301831,17291859,17255953,17195011,17096018,17008875,16990802,16815158,16810297,16710414,16570058 1598947 2312 NM_002016,AF043380,AL356504,CH471121,L01089,M60494,M96943,AB208881,L01090,M24355,M60495,M60499,M60500,M60502 Q03838,Q03839,Q05331,Q15206,Q16824,Q4JFL9,Q59H78,Q9UC71,NP_002007,AAC23559,CAI19595,EAW53383,EAW53384,EAW53385,AAA60177,AAA63244,AAA36487,BAD92118,AAA60176,AAA52454,AAA63245,AAA63246,AAA63247,AAA63248,O75370,P20930,Q03837 Hs.654510 GDB:119912 ATOD2 protein-coding 1603471 FLG2 filaggrin family member 2 12477932 388698 NM_001014342,AL356504,DQ118293,AY827490,BC029685,BC063543,BC108269,BX095286 NP_001014364,CAC13173,AAZ99029,AAX12417,Q5D862 Hs.156124 IFPS protein-coding 1320394 FLI1 Friend leukemia virus integration 1 1582490,1580863 10891501,18174230,17884818,17163154,16964281,16930139,16829517,16802366,16148010,15919668,15809330,15798196,15489334,15282325,15273724,15232614,15231748,15021903,14534527,12875977,12743594,12739001,12724402,12556498,12477932,12359731,11118632,10949935,10827180,10606656,9751743,9681824,9651344,9010223,8679708,8604338,8439553,8246959,7773776,7542907,1845910,1765382,1522903,1445800,1394211,16189514,11313879,15735734 1582490 2313 NM_002017,AB012624,AB012625,AF275879,AP001122,CH471065,D38408,Y17293,AF147318,AY029368,BC001670,BC010115,BX647094,CR600005,M93255,M98833,S45205,X67001 NP_002008,BAA32805,BAA32806,AAA76854,AAG33027,EAW67715,EAW67716,EAW67717,EAW67718,EAW67719,EAW67720,BAA07463,CAA76731,AAK50443,AAH01670,AAH10115,AAA58479,AAA58480,AAA35812,AAB23637,CAA47399,Q01543,Q9UEE2,Q9UEE3,ABM83508,ABM87857 Hs.504281 GDB:127565 EWSR2|SIC-1 protein-coding 1316872 FLII flightless I homolog (Drosophila) This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580863 11171324,10366446,9525888,8248259,7825574,9177775,9671805,17114343,17081983,16964243,16424162,15489334,15302935,14966289,12665801,12477932,11997338,11971982 2314 NM_002018,AC127537,CH471196,U80184,AB208864,BC001582,BC017030,BC021885,BC025300,U01184 NP_002009,EAW55653,EAW55654,EAW55655,EAW55656,AAC02796,BAD92101,AAH25300,AAC03568,Q13045,Q59H95,ABM84547,ABM87849 Hs.513984 GDB:270675 FLI|FLIL|Fli1|MGC39265 protein-coding 1604339 FLJ10081 hypothetical protein FLJ10081 16381901,15489336,15302935,14702039,12477932,11256614,11230166,11076863,10718198 55683 AC079754,CH471207,AB037731,AF311326,AK000943,AK023813,AK074379,AK091163,AL136849,AY050169,NM_017991,BC015469,BC024276,BC032746,BC051763,BC063792,BC127820,CR602875,CR606028 NP_060461,AAX88890,EAW71347,EAW71348,EAW71349,EAW71350,EAW71351,EAW71352,EAW71353,EAW71354,EAW71355,EAW71356,EAW71357,EAW71358,BAA92548,AAG33852,BAA91437,BAB14688,CAB66783,AAL13159,AAH15469,AAH32746,AAH51763,AAH63792,AAI27821,Q0JU55,Q9P2N6,CAL37956,CAL38587 Hs.516341 FLJ23799|KIAA1310 protein-coding 1602876 FLJ10213 hypothetical protein FLJ10213 17353931,14702039,12477932 55096 NM_018029,AC103559,AK001075,BC051316,BC064501,AY036895 NP_060499,BAA91494,AAK83528,AAH51316,AAH64501,Q6P2I7,Q8WWH3,Q9NW89 Hs.658858 protein-coding 1603998 FLJ10357 hypothetical protein FLJ10357 16143467,14702039,12693554,12477932 55701 NM_018071,AL161668,CH471078,AK001219,AK024463,AK074057,AK126755,AL137291,BC000084,BC009992,BC142692,BC151212,BF339938,BQ447317,BX248768,CR618390,T97121 NP_060541,EAW66410,EAW66411,EAW66412,EAW66413,EAW66414,EAW66415,EAW66416,BAA91563,BAB15753,BAB84883,CAB70682,AAH00084,AAI42693,CAD66575,Q86TR4,Q8TER5 Hs.35125 SOLO protein-coding 1601757 FLJ10404 hypothetical protein FLJ10404 16713569,16189514,14702039,12477932,11572484 54540 NM_019057,AC139795,AC145098,CH471195,CS185605,AB067518,AI683595,AK001266,AK096032,AL833096,BC008784,BC071696,BC086859,BX647587 NP_061930,EAW84969,EAW84970,EAW84971,EAW84972,EAW84973,EAW84974,EAW84975,EAW84976,CAJ42786,BAB67824,BAA91589,AAH08784,AAH71696,CAI46078,Q6IPW0,Q96PV7,Q9NW00 Hs.484289 DKFZp313I142|KIAA1931 protein-coding 1602703 FLJ10490 hypothetical protein FLJ10490 14702039,12477932 55150 NM_018111,AC008687,CH471177,AK001352,BC051004,BC069669,BC069693,BC069712,BC069750 NP_060581,EAW52456,BAA91643,AAH51004,AAH69669,AAH69693,AAH69712,AAH69750,Q6NSX4,Q9NVV2 Hs.458310 protein-coding 1601864 FLJ10769 hypothetical protein FLJ10769 16344560,14702039,12477932,11042152,9373149 55739 NM_018210,AL139385,CH471085,AF091088,AF151071,AK001631,AK024260,AK057767,AK058043,AK091867,AK093771,AK225129,AY203948,BC005150,BC006416,BC041028,CR624735,DA175011,DA815628 NP_060680,CAI17008,EAX09114,EAX09115,EAX09116,EAX09117,EAX09118,EAX09119,EAX09120,EAX09121,EAX09122,EAX09123,EAX09124,EAX09125,AAC72957,AAF36157,BAA91797,BAB14863,AAP34471,AAH41028,O95333,Q6XYC2,Q8IW45,Q9P0P1 Hs.408324 FLJ34548|LP3298 protein-coding 1602325 FLJ11151 hypothetical protein FLJ11151 16344560,14702039,12477932,9373149 55313 NM_018340,AC010333,AC092324,AC109597,CH471112,AK002013,AK022710,AK093854,AK225359,AK225617,AY553877,BC006289,BX092044,NM_001099455,BX640805,CR593411,CR605457,CR620354,DA387854,DB468489 NP_001092925,NP_060810,EAW85121,EAW85122,BAA92034,BAB14194,AAS64575,AAH06289,CAE45887,Q6MZY9,Q9BRF8,Q9H9M9,Q9NUT6 Hs.460002 CSTP1 protein-coding 1601859 FLJ11171 hypothetical protein FLJ11171 16344560,14702039,12477932 55783 NM_018348,NM_001099642,AC106736,CH471166,AA968997,AF458590,AK000289,AK002033,AK023183,AK226169,BC034468,BC035005,BX648660,DB227997,DB240113 NP_060818,NP_001093112,EAW59246,EAW59247,AAM49718,BAA91058,BAA92047,BAB14452,AAH34468,AAH35005,Q8IYT2 Hs.72782 protein-coding 1605071 FLJ11184 hypothetical protein FLJ11184 14702039,12477932 55319 AC093788,CH471056,AA772718,AK002046,AW518118,BC005204,BC011842,BC017418,BU159489,BX370094,CR595986,CR602863,CR605828,NM_018352,CR608348,CR612293,CR620535 NP_060822,EAX04836,EAX04837,BAA92053,AAH05204,AAH11842,AAH17418,Q0P6E4,Q0P6J1,Q96EY4,Q9NUR7 Hs.267446 protein-coding 1605065 FLJ11286 hypothetical protein FLJ11286 14702039,12477932 55337 NM_018381,AC020931,CH471106,CQ859736,AK001098,AK002148,AK096142,AK098062,AL137694,BC010847,BC026180,BC035817,CR590846,CR592012,CR592313,CR594187,DB481173 NP_060851,EAW84066,EAW84067,EAW84068,EAW84069,EAW84070,CAH25918,BAA92109,BAC04710,BAC05224,AAH10847,AAH26180,AAH35817,Q8N1H8,Q9NUL5 Hs.655613 FLJ40743 protein-coding 1605954 FLJ11506 hypothetical protein FLJ11506 11256614,17081983,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863 79719 AC012568,AC110292,CH471082,AK021568,AL136715,AL832256,BC001975,BC035852,BC047026,BC058886,BX648272,CR533540,CR614587,CR620129,DA688370,NM_024666 NP_078942,EAW77792,EAW77793,BAB13845,CAB66649,CAI46180,AAH01975,AAH47026,AAH58886,CAH10544,CAG38571,Q0JT75,Q0JUB3,Q5JPJ4,Q6AWA0,Q6PD74,CAL37898,CAL38289 Hs.254642 DKFZp667D2317|DKFZp686G08119 protein-coding 1605337 FLJ11783 hypothetical protein FLJ11783 14702039 79951 NM_024891,AP001267,CH471065,AK021845 NP_079167,EAW67385,BAB13909,Q9HAE0 Hs.664477 protein-coding 1605038 FLJ12331 ribosomal protein S2 pseudogene 14702039,12477932 80052 NG_006666,AC009027,AK022393,BC104819,BC104821 BAB14025,AAI04820,AAI04822,Q2M3Q8,Q9HA33 Hs.661121 MGC132479|MGC132481 pseudo 1602680 FLJ12529 pre-mRNA cleavage factor I, 59 kDa subunit 16713569,12226669,17081983,16189514,15489334,15144186,14702039,12477932,8626397 79869 NM_024811,AP003108,CH471076,AJ275970,AK022591,AK092037,AK096343,AL512759,AL832546,AL832667,AL833332,BC018135,BX537888,CR596129,CR601865 NP_079087,EAW73945,CAC81661,BAB14118,CAC21678,AAH18135,CAD97884,Q8N684 Hs.444552,Hs.702348 FLJ39024|MGC9315 protein-coding 1605036 FLJ12595 guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 14702039,12477932 80060 NG_005649,AC104113,AK022657,BC093802,BC112227 BAB14161,AAH93802,AAI12228,Q52LT0,Q9H9R1 Hs.435237 pseudo 1606505 FLJ12684 hypothetical protein FLJ12684 14702039,12477932 79584 Q0P5R3,Q6NWN0,Q6NWN2,Q9H9K5 NM_024534,AC104066,CH471057,AK022746,AK095318,AY189288,BC067526,BC067527,BC067528,BC067529,BC069998,BP871936 NP_078810,EAX05439,BAB14220,AAO86732,AAH67526,AAH67528,AAH67529,AAH69998,Q0P5R3,Q6NWN0,Q6NWN2,Q9H9K5 Hs.363087 protein-coding 1602458 FLJ13236 hypothetical protein FLJ13236 14702039,12477932 79962 NM_024902,AC125611,CH471111,AK055747,BC033236 NP_079178,EAW58066,EAW58067,AAH33236,Q8N4W6,Q9H8T7 Hs.659300 protein-coding 1605046 FLJ13611 hypothetical protein FLJ13611 12477932,8889548,16344560,14702039 80006 NM_001093755,NM_024941,NM_001093756,NR_003545,AC008560,CH471137,AK023673,AK130467,AL713699,BC012006,BC047475,BC117128,BC142994,BE222610,BX641157,CD105043,CR625108,DA903408,DB145758,DQ088673,N67829,BM664695 NP_001087224,NP_079217,NP_001087225,EAW51343,EAW51344,EAW51345,EAW51346,EAW51347,EAW51348,BAB14633,BAC85360,CAD28498,AAH47475,AAI17129,AAI42995,CAE46070,AAY88966,Q17RZ9,Q49A23,Q4JHG0,Q6MZG4,Q6ZNX1,Q8TCM2,Q9H8I3 Hs.591760,Hs.660517 FLJ26957|MGC48585 protein-coding 1605347 FLJ14154 hypothetical protein FLJ14154 16344560,14702039,12975309,12477932,9373149,8125298 79903 NM_001083601,NM_024845,NM_001083600,AC004224,AC025283,CH471112,AK021755,AK024216,AK092005,AK095819,AK130792,AK225178,AL833594,AY358543,BC011267,BG472911,BU501490,CR457324,CR614322,DA736660,DA786716 NP_001077070,NP_079121,NP_001077069,EAW85358,EAW85359,EAW85360,EAW85361,EAW85362,EAW85363,EAW85364,BAB14853,AAQ88907,AAH11267,CAG33605,Q9H7X0 Hs.513296 FLJ11693 protein-coding 1605618 FLJ14213 protor-2 17461779,14702039,12477932 79899 NM_024841,AC009656,AC087277,CH471064,AK024275,AK055042,BC008922,BC125122,BX640959 NP_079117,EAW68123,EAW68124,BAB14870,AAH08922,AAI25123,CAE45978,Q6MZQ0 Hs.19987 MGC16218|PROTOR2 protein-coding 1604436 FLJ16165 purple acid phosphatase long form Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM] 16793224 390928 NM_001004318,AC011443,CH471126,AK131245,BC136721,BC136722,BC142613 NP_001004318,EAW56857,BAD18425,AAI36722,AAI36723,Q6ZNF0 Hs.448934 PAPL protein-coding 1603217 FLJ20160 FLJ20160 protein 14702039,12477932,9373149 54842 NM_017694,AC092178,AC093388,CH471058,AK000167,AK021420,AK098085,AK127176,AK225240,BC039058,BC050537,BC062757 NP_060164,AAY24173,EAX10867,EAX10868,BAA90987,BAC86869,AAH50537,Q6ZSS7 Hs.418581,Hs.708489 protein-coding 1603216 FLJ20184 hypothetical protein FLJ20184 12477932 54848 NM_017700,AC004066,AC105391,CH471057,AK000191,BC105695 NP_060170,EAX06185,EAX06186,EAX06187,BAA90998,AAI05696,Q9NXL2 Hs.675420 protein-coding 1607013 FLJ20209 hypothetical LOC57245 12477932 57245 XM_933464,XM_944968,AC098649,AK000216,AK127837,AL832057,BC101284,BC101285,BC101286,BC101287,BC113070 XP_938557,XP_950061,BAC87157,Q6ZRZ9 Hs.61430 miscrna 1606543 FLJ20254 hypothetical protein FLJ20254 15231747,14702039,12477932 54867 NM_017727,NM_001083590,AC013472,CH471053,CQ834796,AA460659,AF289555,AK000261,AK074981,AK097001,AK097308,AL833725,AL834157,BC002467,BC068479,CF994632,CR616624 NP_060197,NP_001077059,AAY14654,EAX00654,EAX00655,EAX00656,EAX00657,EAX00658,EAX00659,CAH05613,AAL55739,BAA91038,BAC11331,CAH10591,CAD38863,AAH68479,Q6NUQ4,Q8N3H6 Hs.533934 FLJ39682 protein-coding 1606537 FLJ20309 hypothetical protein FLJ20309 16344560,16230350,14702039,12477932,9373149,8125298 54891 NM_017759,AC007383,AC007679,AC092677,CH471063,AK000316,AK096585,AK225339,BC004193,BC011687,BC017290,CR746991,CR933609,DB233201 NP_060229,AAX93069,EAW70374,EAW70375,BAA91079,AAH04193,AAH11687,AAH17290,Q53TQ3 Hs.445036 protein-coding 1601868 FLJ20323 hypothetical protein FLJ20323 16344560,14702039,12477932 54468 AC004982,CH236948,CH471073,NM_019005,AK000330,AK096829,AL136892,BC005883,BC068512,BC140833,BC140834,DB300609,DB451117 NP_061878,AAC31788,EAW93598,EAW93599,EAW93600,EAW93601,EAW93602,BAA91090,CAB66826,AAH05883,AAI40834,AAI40835,Q6NUN4,Q9NXC5 Hs.520215 protein-coding 1606281 FLJ20433 hypothetical protein FLJ20433 16344560,16189514,14702039,12477932 54932 NM_017820,BX322799,CH471090,AB061798,AK000440,AK055004,AK091390,AK094438,AL536907,BC033079,BC037355,BC039252,BC065002,BC069205,BC110879,BC131749,BU947354,DA071548,DA328221 NP_060290,EAW88381,EAW88382,EAW88383,EAW88384,BAC10986,BAA91167,BAB70838,BAC04356,AAH37355,AAH39252,AAH65002,AAI10880,Q6P1M1,Q8IXT8,Q8N9H8,Q9NX53 Hs.495553 FLJ30442|MGC131904|MGC74981 protein-coding 1606066 FLJ20444 hypothetical protein FLJ20444 403323 XM_933028,AL512625,CR769767,AK000451,AK290223 XP_938121,BAF82912 Hs.708535 protein-coding 1604345 FLJ20489 hypothetical protein FLJ20489 12477932 55652 Q6P1K1,Q9BUB3,Q9NX17 NM_017842,AC004466,CH471111,AK000496,AK025856,BC002759,BC011823,BC026344,BC065033,CR618506 Q6P1K1,Q9BUB3,Q9NX17,NP_060312,EAW57950,EAW57951,BAA91205,AAH02759,AAH26344,AAH65033 Hs.438867 protein-coding 1602887 FLJ20628 hypothetical protein FLJ20628 This gene encodes a protein that contains a domain in common with tRNA methyltransferase and related methyltransferases. 12477932,11230166,9373149 55006 NM_017910,AC097720,CH471053,AK225524,AK225551,AL136689,BC000952,BC010365,CR596396,CR610767,CR612345,CR620335,CR624779 NP_060380,AAY24015,EAX00524,EAX00525,CAB66624,AAH00952,AAH10365,Q9BVS5 Hs.468026 DKFZp564I2178 protein-coding 1607028 FLJ20674 hypothetical protein FLJ20674 12477932 54621 NM_019086,AC026366,AC131238,CH471054,AK000681,BC028698,BC034471 NP_061959,EAW98119,EAW98120,EAW98121,BAA91322,AAH28698,AAH34471,Q8N0Z9,Q9NWQ7 Hs.705880 protein-coding 1602885 FLJ20699 hypothetical protein FLJ20699 16344560,12477932 55020 NM_017931,CH471138,Z93024,AI243497,AK000706,BC018918,CR592031,CR595565,DA762669 NP_060401,EAW73412,EAW73413,EAW73414,EAW73415,CAI18791,CAP58852,BAA91331,AAH18918,Q5R3I4 Hs.435832 protein-coding 1605631 FLJ21062 hypothetical protein FLJ21062 14702039,12477932,8889548 79846 NM_001039706,AC002064,CH236949,AK024715,AK093991,AL833446,AY349356,BC036351,BC132771,BC141834,BC142655,BU676209 NP_001034795,BAB14972,AAQ56720,AAH36351,AAI32772,AAI41835,AAI42656 Hs.657403 protein-coding 1605032 FLJ21075 hypothetical protein FLJ21075 12853948,12477932 80099 NM_025031,AC019066,AC069282,CH236958,CH471128,AK024728,BC113679,BC113681,CA420605 NP_079307,AAS07564,EAL23806,EAW61008,BAB14977,AAI13680,AAI13682,Q14CN7,Q75MJ5,Q9H7B7 Hs.287647 protein-coding 1602204 FLJ21511 hypothetical protein FLJ21511 16344560 80157 NM_025087,AC020593,CH471069,AI377551,AK025164,BC137387,BC137388,DA426878 NP_079363,EAW93078,BAB15080,AAI37388,AAI37389,Q9H720 Hs.479703 protein-coding 1601977 FLJ21865 endo-beta-N-acetylglucosaminidase Endo-beta-N-acetylglucosaminidase (ENGase; EC 3.2.1.96) is involved in the processing of free oligosaccharides in the cytosol.[supplied by OMIM] 12905469,12477932,12114544,8269854 64772 NM_001042573,AC073624,CH471099,AF512564,AK025518,AL110283,BC024213,BC035869,BC042158 NP_001036038,EAW89559,EAW89560,EAW89561,EAW89562,AAM80487,BAB15158,CAH56405,AAH24213,Q8NFI3,AAI56538 Hs.29288 DKFZp434P174|ENGase protein-coding 1602867 FLJ22222 hypothetical protein FLJ22222 12477932 79701 NM_024648,NM_175902,AC132938,CH471099,AK025875,BC008897,BC009297,BC023602 NP_078924,NP_787098,EAW89769,EAW89770,BAB15267,AAH08897,AAH09297,AAH23602,Q6PK18,Q96GQ8 Hs.567578 protein-coding 1604570 FLJ22374 hypothetical protein FLJ22374 16344560,14702039,12477932 84182 NM_032222,AC006022,CH471073,AF538962,AK026027,AK090826,AK128558,BC043210,BC098569,DA868176 Q6ZR20,Q71AZ7,Q9H6D2,NP_115598,EAW93970,AAQ10898,BAB15327,BAC87501,AAH43210,AAH98569,Q4G0A6,Q4G0P6 Hs.660192 MGC44277 protein-coding 1605619 FLJ22662 hypothetical protein FLJ22662 12477932,9373149 79887 BC063561,NM_024829,AC008114,CH471094,AI370813,AK026315,AK225458,AK290914,BC000909,BQ721063,BU859334,CB993231,CD366142,CR598292,CR602008,CR615954,CR621086 NP_079105,EAW96322,EAW96323,BAB15442,BAF83603,AAH00909,AAH63561,Q6P4A8 Hs.131933 protein-coding 1604793 FLJ22795 hypothetical protein FLJ22795 10746788,12477932 80154 NM_025084,XM_001132656,AC135995,AF316855,AK026448,BC007811,CR608659 NP_079360,XP_001132656,AAK15476,BAB15487,AAH07811,Q7Z5S0,Q96I56,Q9BXM8,Q9H5Y0 Hs.498322,Hs.546614,Hs.648238 protein-coding 1602085 FLJ23356 hypothetical protein FLJ23356 15761153,15489334,14702039,12477932 84197 NM_032237,AC113191,CH471080,BC101548,BC113703 NP_115613,EAW63187,AAI01549,AAI13704,Q9H5K3 Hs.491646 MGC126597 protein-coding 1606236 FLJ23584 hypothetical protein FLJ23584 15231748,14702039,12477932 79640 NM_024588,CH471095,Z83840,AK027237,AK095008,AK131457,BC007210,BC035403 NP_078864,EAW60455,EAW60457,CAI17918,BAB15702,BAD18602,AAH07210,Q5H9C3,Q6ZMX3,Q9H5C5 Hs.517653 protein-coding 1603532 FLJ23834 hypothetical protein FLJ23834 14702039,12690205,12477932 222256 AC004836,AC004964,CH236947,CH471070,AK074414,AK125261,AK126338,AK131293,BC111696,BC111738,CR607992,NM_152750 EAL24403,EAW83375,EAW83376,EAW83377,EAW83378,BAB85073,BAC86529,AAI11697,AAI11739,Q6ZTQ4,NP_689963 Hs.202120 FLJ43271|MGC133292|MGC133293 protein-coding 1603276 FLJ25006 hypothetical protein FLJ25006 15489334,14702039,12477932 124923 NM_144610,AC005726,CH471159,AK057735,BC045622 NP_653211,EAW51108,EAW51109,EAW51110,EAW51111,BAB71555,AAH45622,Q96LW2 Hs.657973 MGC39533 protein-coding 1603513 FLJ25037 hypothetical protein FLJ25037 12477932 285905 NM_182596,AC104073,AK057766,BC111554 NP_872402,BAB71563,AAI11555,Q2T9F4,Q96LV5 Hs.567827,Hs.676517 MGC133166 protein-coding 2292051 FLJ25328 hypothetical LOC148231 12477932 148231 NM_152483,AC004790,AC114273,CH471106,AK058057,BC031284,BC069223,BC104220,BC104221 NP_689696,EAW84519,EAW84520,BAB71644,AAH31284,AAH69223,AAI04222,Q3SXM3,Q8NEE7 Hs.631621 MGC126002 miscrna 1602179 FLJ25371 hypothetical protein FLJ25371 16344560,15342556 152940 NM_152543,AC093700,AC109823,CH471056,AK058100,BP369394,DB037602 NP_689756,EAX04851,BAB71665,Q96LM5 Hs.415576 protein-coding 1603175 FLJ25439 hypothetical protein FLJ25439 14702039,12477932 153657 NM_144725,AC026801,CH471119,AK058168,AK097766,AY498865,BC032871,BC057775,BX088767 NP_653326,EAW55900,EAW55901,BAB71699,BAC05164,AAR92152,AAH32871,AAH57775,Q6PF05,Q8IYZ1 Hs.435742 protein-coding 1602411 FLJ25770 hypothetical protein FLJ25770 16189514,12477932,11752456 339965 NM_001042784,AC034139,AC096743,CH471057,AK098600,AK098636,AL832445,AV658624,BC035224,BC086869 NP_001036249,EAX05788,EAX05789,EAX05790,EAX05791,EAX05792,BAC05347,BAC05359,AAH35224,AAH86869,Q5M9N0,AAI56682 Hs.529680 MGC35086 protein-coding 1602259 FLJ25996 FLJ25996 protein 401109 Q6ZPD5 NM_001001699,AC139666,AK129507 NP_001001699,BAC85170,Q6ZPD5 Hs.280133 protein-coding 1602267 FLJ26056 hypothetical protein LOC375127 375127 XM_001126757,NM_201401,AC008079,AC011718,AK129567 Q6ZPC6,XP_001126757,NP_958803,BAC85185 Hs.535667,Hs.652126 protein-coding 1606078 FLJ26850 FLJ26850 protein 400710 Q6ZNZ3 NM_001001687,AC010624,AK130360,BC130542,BC130544 NP_001001687,BAC85332,AAI30543,AAI30545,Q6ZNZ3 Hs.628968 MGC163414|MGC163416 protein-coding 1605198 FLJ27505 FLJ27505 protein 389320 NM_207408,AC099513,CH471086,AK131015,BC130495,BC130497 NP_997291,EAW48848,BAC85477,AAI30496,AAI30498,Q6ZNM6 Hs.177983 MGC163367|MGC163369 protein-coding 1603262 FLJ30058 hypothetical protein FLJ30058 15772651,15489334,14702039,12477932 158763 CH471107,AK054620,AK128203,BC063790,CR619310,CR625224,NM_144967,AL590131 CAI41399,CAI41400,CAI41401,EAX11793,EAX11794,EAX11795,BAB70776,BAC87322,AAH63790,NP_659404,CAI41398,Q5JRM1,Q6ZRI8 Hs.22905 RP13-102H20.1 protein-coding 1606951 FLJ31818 hypothetical protein FLJ31818 16344560,14702039,12477932 154743 NM_152556,AC018464,AC073183,CH236947,CH471070,AF274937,AK056380,AL834437,BC114615,DA738444 NP_689769,EAW83473,EAW83474,BAB71169,CAD39097,AAI14616,Q1RMZ1,Q8N3D0,Q96MV7 Hs.489734 protein-coding 1603269 FLJ31958 hypothetical protein FLJ31958 14702039 143153 AK056520 BAB71202,Q96MT0 Hs.706372 protein-coding 1604205 FLJ32065 hypothetical protein FLJ32065 12477932,14702039 201283 XM_001134063,XM_001134051,AC037487,CH471099,AK056627,BC003669,BC063466,BC073870,BX537538,CR595347 XP_001134063,XP_001134051,EAW88989,EAW88990,EAW88991,EAW88992,BAB71235,AAH73870,Q6GMT2,Q96MP9 Hs.396447 DKFZp686D22101|MGC90301 protein-coding 1603264 FLJ32154 hypothetical protein FLJ32154 14702039 149650 XM_928933,XM_001724364,XM_940524,AL357033,CH471077,AK056716 XP_934026,XP_001724416,XP_945617,CAI17067,EAW75354,BAB71263,Q5JT57,Q96MM4 Hs.173280 RP11-93B14.6 protein-coding 2292055 FLJ32214 hypothetical LOC147664 15231748,14702039,12477932 147664 NM_152473,AC010328,CH471135,AK056776,BC104018,BC104019,BC104020,BC113852,BC114460 NP_689686,EAW72108,BAB71281,AAI04019,AAI04020,AAI04021,AAI13853,AAI14461,Q1WWM0,Q29RX2,Q3MI81,Q3MI82,Q96MK7 Hs.44329 miscrna 1603179 FLJ32549 hypothetical protein FLJ32549 14702039,12477932,11752456 144577 NM_152440,AC012158,CH471054,AK057111,AK095383,AK129933,AV653957,BC036246,BC071634,CR604240,CR620910,W44639 NP_689653,EAW97124,BAB71367,AAH36246,AAH71634,Q8IYA0,Q96MD2 Hs.505871 protein-coding 1602065 FLJ32658 hypothetical protein FLJ32658 16189514,14702039,12477932 147872 NM_144688,AC010619,AC010643,CH471177,AK057220,AK097696,BC029811 NP_653289,EAW52476,EAW52477,EAW52478,BAB71384,AAH29811,Q6ZRK4,Q8N6L0 Hs.710331 protein-coding 1604419 FLJ32679 golgin-like hypothetical protein LOC440321 17672918,14702039,12477932 440321 NM_001012452,AC139511,AK057241,AK292534,BC099913,BC110417,BC150302,DQ309038 NP_001012455,BAF85223,AAH99913,AAI10418,AAI50303,ABD73922 Hs.510812,Hs.648235 MGC102859|MGC104696 protein-coding 1606127 FLJ32682 hypothetical protein FLJ32682 14702039 220081 XM_495949,XM_001719972,XM_942284,AL139326,CH471075,AK057244,BC131494 XP_495949,XP_001720024,XP_947377,CAH72890,EAX08745,BAB71393,AAI31495,Q5W0A0 Hs.668747 protein-coding 1606163 FLJ32784 hypothetical protein FLJ32784 16344560,14702039,12477932 127731 XM_001722222,XM_001722706,XM_001720309,AL020998,CH471134,AK057346,AK125833,BC101378,BC101379,BC101380,BC101381,DA806846 XP_001722274,XP_001722758,XP_001720361,CAI22621,EAW94921,BAB71439,BAC86312,AAI01379,AAI01380,AAI01381,AAI01382,Q5TIE3 Hs.205178 FLJ43845 protein-coding 1603360 FLJ32894 hypothetical protein LOC144360 14702039,12477932 144360 BC104436,AK057456,BC104437,NM_144667,AC087312,CH471094 BAB71495,Q96M19,EAW96495,NP_653268 Hs.350668 MGC129798|MGC129799 protein-coding 1604906 FLJ33360 FLJ33360 protein 14702039 401172 Q8NBE2 NM_001001702,AC010635,CH471102,AK090679,BC132707,BC132709 NP_001001702,EAX08111,BAC03503,AAI32708,AAI32710,Q8NBE2 Hs.376760 protein-coding 1606110 FLJ33590 hypothetical protein FLJ33590 14702039,12477932 285093 NM_173821,AC131097,CH471063,AK090909,BC113517,BC113519 NP_776182,EAW71299,EAW71300,EAW71301,EAW71302,BAC03544,AAI13518,AAI13520,Q14D33,Q8N2A5 Hs.376307 MGC142077|MGC142079 protein-coding 1603871 FLJ33790 hypothetical protein FLJ33790 14702039,12477932 283212 CH471076,NM_001039548,AP000744,AK091109,BC042952,BC057763,BC131539,BC132708,BC132710,BI464945 Q86XM7,NP_001034637,EAW74964,EAW74965,EAW74966,BAC03585,AAH42952,AAH57763,AAI32709,AAI32711,Q6PF15,Q8NBB1 Hs.292451 protein-coding 1602281 FLJ35220 hypothetical protein FLJ35220 14702039,12477932 284131 AC120024,CH471099,DQ500957,AK092539,AK096344,AK096802,AK123689,BC037889,BC045824,BC059781,BC064545,BX647411,CR617882,NM_173627 NP_775898,EAW89602,EAW89603,EAW89604,EAW89605,EAW89606,EAW89607,EAW89608,EAW89609,EAW89610,EAW89611,EAW89612,EAW89613,EAW89614,EAW89615,ABF47100,BAC03912,BAC04765,BAC85677,AAH37889,AAH45824,AAH64545,Q6P2G2,Q6ZW30,Q86X99,Q8N8Q3,Q8NAK0 Hs.389678 MGC74455 protein-coding 1603143 FLJ35767 FLJ35767 protein 14702039,12477932 400629 NM_207459,AC132938,CH471099,AK093086,BC016939,BC036191,BC050391,BC057820 NP_997342,EAW89767,BAC04049,AAH16939,AAH36191,AAH50391,AAH57820,Q8NA77 Hs.231897 protein-coding 1603890 FLJ35773 hypothetical protein FLJ35773 14702039,12477932 162387 NM_152599,AC009451,CH471108,AK093092,AY129026,BC040487 NP_689812,EAW90042,BAC04050,AAM98769,AAH40487,Q6YL34,Q8IWD5 Hs.213603 protein-coding 1605246 FLJ35848 hypothetical protein FLJ35848 14702039,12477932 284071 NM_001033659,AC091152,CH471178,AK093167,BC035159,BC041481,BC132822 NP_001028831,EAW51590,BAC04083,AAH35159,AAH41481,AAI32823,A2RUB1 Hs.349758 MGC43301 protein-coding 1602288 FLJ36031 hypothetical protein FLJ36031 14702039,12690205,12477932,12107410,8889549 168455 NM_175884,AC004917,CH236947,AA191066,AK093350,BC013906,BC032243,CA397148,CK904414 NP_787080,EAL24398,BAC04142,AAH13906,Q8N9Z2 Hs.29692 protein-coding 1604486 FLJ36070 likely ortholog of MEF2-activating SAP transcriptional regulator 16818234,14702039,12477932 284358 NM_182574,AC008888,CH471177,AK093389,AK131427,BC105056,BC105058,BC106047 NP_872380,EAW52390,EAW52391,EAW52392,BAC04152,BAD18574,AAI05057,AAI05059,AAI06048,Q3KQU9,Q6ZN01,Q8N9Y3 Hs.191815 MASTR|MGC117259 protein-coding 1602047 FLJ36131 hypothetical protein FLJ36131 14702039 338999 XM_001722016,XM_001722364,XM_001722366,AC138750,AK093450,BC127816 XP_001722068,XP_001722416,XP_001722418,BAC04170,AAI27817,Q8N9W7 Hs.531569,Hs.569472 protein-coding 1602637 FLJ36208 hypothetical protein FLJ36208 14702039,12477932 283948 NM_176677,CH471112,AK093527,BC032015,BC048340,BC113527,BC113529,CR616825 NP_788850,EAW85801,BAC04193,AAI13528,AAI13530,Q96S23 Hs.664267 protein-coding 1601811 FLJ37078 hypothetical protein FLJ37078 14702039,12477932 222183 XM_001713636,XM_001713635,XM_001713637,XM_001713638,NM_001110199,AC005077,AK092590,AK094397,BC029292,BC060318,BC063788,BC071856,BC096755,BE466083,CA949697,CR623032 XP_001713688,XP_001713687,XP_001713689,XP_001713690,NP_001103669,BAC03922,BAC04346,AAH63788,Q8N0Y6 Hs.511025,Hs.709544 FLJ35271 protein-coding 1601922 FLJ37396 hypothetical protein FLJ37396 14702039 285754 XM_001722396,XM_001726130,XM_001725471,AL355305,AL359712,CH471051,AK094715 XP_001722448,XP_001726182,XP_001725523,EAW48358,EAW48359,EAW48360,BAC04406,Q8N1W0 protein-coding 1602823 FLJ37464 hypothetical protein FLJ37464 14702039,12975309,12477932 283848 NM_173815,AC009084,CH471092,AK094783,AK293061,BC029039,BC041823,BC064573,BC084555,BI914453 NP_776176,EAW83065,BAC04422,BAF85750,AAH64573,AAH84555,Q5XG92,Q6P2E5,AAI66638 Hs.346947 protein-coding 1604480 FLJ37543 hypothetical protein FLJ37543 14702039,12477932 285668 NM_173667,AC026746,AC094086,CH471137,AK094862,BC111982,BC112008 NP_775938,EAW51393,BAC04439,AAI11983,AAI12009,Q2M2E5,Q2M2H1,Q8N1U8 Hs.683866 MGC138187|MGC138213 protein-coding 1602963 FLJ38723 hypothetical protein FLJ38723 14702039 255180 Q8N8X6 AK096042,BC131692,NM_173805,AC126323,CH471082 EAW77611,EAW77612,EAW77613,BAC04685,AAI31693,Q8N8X6,NP_776166 Hs.370479 protein-coding 1603539 FLJ38973 hypothetical protein FLJ38973 14702039,12477932 205327 NM_153689,AC097717,CH471063,AK096292,BC036456 NP_710156,AAY24161,EAW70190,BAC04749,AAH36456,Q8N8R5 Hs.471040 protein-coding 1602163 FLJ39378 hypothetical protein FLJ39378 14702039,12477932 353116 Q5EBL4,Q66K36,Q8N1M0 BC089444,NM_178314,AC055713,AC145423,CH471054,AK096697,AK097550,BC041375,BC080626 AAH80626,AAH89444,Q5EBL4,Q66K36,Q8N1M0,NP_847884,EAW98415,EAW98416,BAC04845 Hs.530315 MGC105128|MGC99793 protein-coding 1602962 FLJ39743 hypothetical protein FLJ39743 14702039 283777 NM_182562,AC103968,AC118658,AK097062 NP_872368,BAC04940,Q8N8A8,AAI46359,AAI48844 Hs.668070 protein-coding 1603152 FLJ40113 golgi autoantigen, golgin subfamily a-like pseudogene 14702039 374650 NM_198079,NR_003246,AC048382,AK092490,AK097432,AK130562,BX647899 NP_932345,BAC03904,BAC05050 Hs.498345,Hs.534573,Hs.534900 FLJ35171 pseudo 1604993 FLJ40125 hypothetical protein FLJ40125 14702039,12477932 147699 NM_001080401,AC138534,CH471126,AK097444,BC028228,BC062452 NP_001073870,EAW57360,BAC05056,AAH28228,AAH62452,Q6P662,Q8N819 Hs.532872 protein-coding 1604429 FLJ40142 FLJ40142 protein 14702039,12477932 400073 AC007546,AK021447,AK097461,BC041968,BC046185,BC133010,BC133012,CR617550,NM_207435 NP_997318,BAC05063,AAI33011,AAI33013,Q8N812 Hs.44817 FLJ11385 protein-coding 1602049 FLJ40235 hypothetical protein FLJ40235 14702039,12477932 284369 NM_173635,AC063977,CH471135,AK097554,BC126357,BC126359 NP_775906,EAW71997,EAW71998,BAC05098,AAI26358,AAI26360,Q8N7X8 Hs.381087 MGC161635|MGC161637 protein-coding 1604530 FLJ40243 hypothetical protein FLJ40243 14702039,12477932 133558 NM_173489,AC114967,CH471119,AF432068,AK097562,AK126005,AK128183,AL832763,BC026008,BC034600,BC044937,BC052962,BF979306,CR749346 NP_775760,EAW56009,EAW56010,EAW56011,AAP97306,BAC05103,AAH34600,AAH52962,CAH18199,Q4G0Z6,Q7Z745 Hs.97714 DKFZp781F0822 protein-coding 1603344 FLJ40288 hypothetical protein FLJ40288 14702039 286023 Q8N7V8 NM_173682,AC009365,CH236950,CH471070,AK097607 Q8N7V8,NP_775953,EAL24075,EAW83797,EAW83798,BAC05118 Hs.671875 protein-coding 1603591 FLJ40296 FLJ40296 protein 14702039,12477932 122183 NM_198441,AL353652,AK097615,BC120931,BC120932 NP_940843,BAC05121,AAI20932,AAI20933,Q8N7V5 Hs.525056 MGC149404|MGC149405 protein-coding 1603909 FLJ40298 hypothetical protein FLJ40298 14702039,12477932 129852 NM_001100396,AC108929,CH471053,AK097617,BC031669,BC126244,BC126246 NP_001093866,EAX00149,EAX00150,EAX00151,BAC05122,AAH31669,AAI26245,AAI26247,Q8N5S3 Hs.269546 protein-coding 1604172 FLJ40448 hypothetical protein FLJ40448 14702039,12477932 339059 Q2NKK6,Q8N7R2 NM_182605,AC138028,AK097767,BC111769 NP_872411,BAC05165,AAI11770,Q2NKK6,Q8N7R2 Hs.449817 MGC133175 protein-coding 1602156 FLJ40453 FLJ40453 protein 14702039 401217 Q8N7Q8 NM_001007542,AC008671,AK097772 NP_001007543,BAC05169,Q8N7Q8 Hs.531911 protein-coding 1605243 FLJ40504 hypothetical protein FLJ40504 14702039,12477932 284085 AC061975,CH471159,NM_173624,AK097823,BC112026,BC112028 NP_775895,EAW51066,BAC05178,AAI12027,AAI12029,Q8N7Q0 Hs.371796,Hs.697618 MGC138231|MGC138233 protein-coding 1601701 FLJ40852 hypothetical protein FLJ40852 14702039,12477932 285962 Q8N7M3 NM_173677,AC004918,CH236950,CH471070,AK098171,BC101358,BC101359,BC101360 BAC05250,NP_775948,EAW83976,Q8N7M3 Hs.17589 protein-coding 1602618 FLJ41046 FLJ41046 protein 400940 NM_207479,AC073479,AK123041 NP_997362,BAC85522,Q6ZWI0 Hs.689605 protein-coding 1604678 FLJ41170 FLJ41170 protein 440200 Q6ZWF7 NM_001004332,AL132709,AK123165,BC132807 NP_001004332,BAC85546,AAI32808,Q6ZWF7 Hs.611431 protein-coding 1604912 FLJ41423 FLJ41423 protein 399886 Q6ZW93 NM_001001679,AC018716,CH471064,AK123417,BC130636,BC130638 NP_001001679,EAW68041,BAC85611,AAI30637,AAI30639,Q6ZW93 Hs.559970 protein-coding 1602402 FLJ41603 FLJ41603 protein 14702039,12477932 389337 NM_001001669,AC021078,AC022100,AC116360,CH471062,AB199796,AK023814,AK123597,BC041325,BF508325,BF510234 NP_001001669,EAW61765,EAW61766,BAF43710,BAC85655 Hs.256206 protein-coding 1602151 FLJ41649 FLJ41649 protein 12477932 401260 NM_001001705,AL139275,AK123643,BC132803,BC132805,R41561 NP_001001705,BAC85669,AAI32804,AAI32806,Q6ZW38 Hs.654837 protein-coding 1602796 FLJ41733 FLJ41733 protein 400870 Q6ZW23 NM_207473,AP001046,AK123727 NP_997356,BAC85684,Q6ZW23 Hs.517320 protein-coding 1602150 FLJ41841 FLJ41841 protein 401263 Q6ZW05 NM_207499,AL121973,AL139336,AL161622,AL353138,AK123835 NP_997382,BAC85703,Q6ZW05 Hs.659409 protein-coding 1604680 FLJ42177 FLJ42177 protein 12477932 401271 NM_001001706,AL109947,AL121788,AL139391,AK131244,BC087860 NP_001001706,BAD18424,AAH87860,Q5I0W8,Q6ZNF1,AAI46444,AAI53056 Hs.205144 protein-coding 1605179 FLJ42258 FLJ42258 protein 440049 Q6ZVP4 NM_001004327,AP001888,AK124252,BC133014,BC133018 NP_001004327,BAC85817,AAI33015,AAI33019,Q6ZVP4 Hs.653187 protein-coding 1604426 FLJ42280 FLJ42280 protein 401388 Q6ZVN7 NM_207503,AC092031,CH236949,AK124274 NP_997386,BAC85824,Q6ZVN7 Hs.534805 protein-coding 1604921 FLJ42289 FLJ42289 protein 14702039,12477932 388182 Q0P695,Q53A19,Q6ZVN6 BC132704,BC132706,NM_207383,AC015723,CH471101,AK057536,AK124283,AY605659,BC028144 AAI32707,Q0P695,Q53A19,Q6ZVN6,AAI32705,NP_997266,EAX02265,EAX02266,BAC85825,AAV83777,AAH28144 Hs.136982 FLJ32974 protein-coding 1605782 FLJ42953 breakpoint cluster region pseudogene 14702039 400892 NG_007131,AP000550,AK093346,AK124943 BAC86000,Q6ZV63 Hs.505361 FLJ36027 pseudo 1602029 FLJ42957 FLJ42957 protein 12477932 400077 NM_207436,AC090670,AK124947,BC121822,BC122872 NP_997319,BAC86003,AAI21823,AAI22873,Q6ZV60 Hs.441601 MGC148154|MGC148155 protein-coding 1606088 FLJ42986 FLJ42986 protein 389012 XM_001128206,XM_001127714,AC092570,CH471127,AK124976,AK131289 XP_001128206,XP_001127714,EAX01812,EAX01813,BAC86013,BAD18461,Q6ZNB4,Q6ZV50 Hs.647811 protein-coding 1602152 FLJ43093 FLJ43093 protein 401258 XM_001725007,XM_001722068,XM_001722008,CH471081,AK125083 XP_001725059,XP_001722120,XP_001722060,EAX03908,EAX03909,EAX03910,BAC86047 Hs.485258 protein-coding 1604922 FLJ43276 similar to ubiquitin-conjugating enzyme E2Q 2 388165 XR_042138,NR_003661,AC048382,AK125266 BAC86104 Hs.498348 pseudo 1605784 FLJ43505 FLJ43505 protein 400823 NM_207468,AL392172,AK125494,CA848039 NP_997351,CAO03435,CAO03436,CAO03437,BAC86182,A6PVY3 Hs.697608 RP11-452F19.2 protein-coding 1602035 FLJ43582 FLJ43582 protein 389649 NM_207412,AC069120,AC087623,AK125570,BC137511,BC137512,BC139744 NP_997295,BAC86207,AAI37512,AAI37513,AAI39745,Q6ZUL3 Hs.546586 protein-coding 1604887 FLJ43692 ARHGEF5-like 445328 NM_001003702,AC004889,AK125680,BC136868,BC136878,EF560743 NP_001003702,BAC86243,AAI36869,AAI36879,ABQ59053,Q6ZUI2 Hs.534621 CTAGE4 protein-coding 1602153 FLJ43752 FLJ43752 protein 401253 NM_207497,Z93017,AK125740 NP_997380,BAC86269,Q6ZUF6 Hs.520075 protein-coding 1602799 FLJ43806 hypothetical protein FLJ43806 14702039,12477932,9110174,8619474 399563 Q5TGF1,Q6ZUD1 AF052120,AK057155,AK125388,AK125794,BC101637,BC113621,BX648256,NM_201628,AL034395,AL035405,AL391215 CAI13901,BAC86294,AAI01638,AAI13622,Q5TGF1,Q6ZUD1,NP_963922,CAI19921,CAI19832 Hs.631868 MGC126686|RP1-21O18.1 protein-coding 1602032 FLJ43860 FLJ43860 protein 16344560 389690 NM_207414,AC100803,AC138647,CH471060,AK125848,AK131461,DB063153,DB070296,DN831584 NP_997297,EAW92232,EAW92233,EAW92234,BAC86317,BAD18606,Q6ZMW9,Q6ZUA9 Hs.689547 protein-coding 1602441 FLJ43980 FLJ43980 protein 12477932 124149 Q68DM0,Q6NSI1,Q6ZU59 NM_001004299,AC092368,AC106819,AK125968,BC070117,CR749347 NP_001004299,BAC86367,AAH70117,CAH18200,Q68DM0,Q6NSI1,Q6ZU59 Hs.97414 DKFZp781D1722|MGC87661 protein-coding 1602400 FLJ44048 FLJ44048 protein 401024 BX647691,BX648733,NM_207482,AC008174,CH471058,AK126036,AK126051,AK126089,AK126104 CAI46017,Q6ZTY5,Q6ZU21,BAC86442,NP_997365,EAX10939,EAX10940,BAC86406,BAC86413,BAC86432 Hs.98025 FLJ44063|FLJ44101|FLJ44116 protein-coding 1605186 FLJ44076 FLJ44076 protein 401080 Q6ZU06 NM_207486,AC069222,AK126064,BC132843,BC132847 NP_997369,BAC86421,AAI32844,AAI32848,Q6ZU06 Hs.518032 protein-coding 1601790 FLJ44635 TPT1-like protein 14702039 392490 NM_207422,BX119917,AK126598,AY572224,BC137552 NP_997305,BAC86606,AAS76644,AAI37553,Q56UQ5 Hs.660859 protein-coding 1602261 FLJ44653 FLJ44653 protein 399833 Q6ZTH4 NM_001001678,AL161645,AK126615 NP_001001678,BAC86613,Q6ZTH4 Hs.660426 protein-coding 1606635 FLJ44815 FLJ44815 protein 12477932 400591 NM_207454,AC005691,AK126768,BC133004,BC142651 NP_997337,BAC86680,AAI33005,AAI42652,Q6ZTB3 Hs.514090 protein-coding 1602149 FLJ44955 FLJ44955 protein 12477932 401278 Q6ZT50 NM_207500,AL023806,AK126903,BC118596,BC122560 NP_997383,BAC86744,AAI18597,AAI22561,Q6ZT50 Hs.648061 protein-coding 1605797 FLJ44968 FLJ44968 protein 14702039,12477932 374887 NM_198537,AC011448,CH471106,AK094976,AK126916,BC020948,BC093948,BC112285,DB551327,DQ778079,DQ778080 NP_940939,EAW84827,EAW84828,EAW84829,BAC86749,AAH20948,AAH93948,AAI12286,ABI63349,ABI63344,Q4G1C0,Q6ZT45,AAI48457 Hs.710444 MGC138490 protein-coding 1603144 FLJ45079 FLJ45079 protein 400624 NM_001001685,AC015804,CH471099,AK127023,AK128332 NP_001001685,EAW89479,BAC86792,BAC87388,Q6ZRC4 Hs.514521 FLJ46474 protein-coding 1603236 FLJ45121 FLJ45121 protein 400556 Q6ZSY7 NM_207451,AC138028,CH471184,AK127064 NP_997334,EAW66774,BAC86809,Q6ZSY7 Hs.437712 protein-coding 1602797 FLJ45139 FLJ45139 protein 400867 NM_001001692,AF064858,AP001042,AP001043,AP001044,AP001045,AK127082 NP_001001692,BAC86818,Q6ZSX8 Hs.689509 protein-coding 1601788 FLJ45224 FLJ45224 protein 12477932 401562 NM_207510,AL807752,AK127160,AK127236,BC062468 NP_997393,BAC86862,BAC86897,Q6ZSQ0,Q6ZST4 Hs.695210 protein-coding 2292050 FLJ45244 hypothetical locus FLJ45244 12477932 400242 NM_207443,AL356017,AK127179,BC040596,BC132912,BX648898,CR611440 NP_997326,BAC86872,Q6ZSS4 Hs.497573 miscrna 1603237 FLJ45256 FLJ45256 protein 400511 Q6ZSR6 NM_207448,AC002565,AK127191,BC132761,BC132789 NP_997331,BAC86880,AAI32762,AAI32790,Q6ZSR6 Hs.592028 protein-coding 1606071 FLJ45337 FLJ45337 protein 400754 Q6ZSN9 NM_207465,AL603840,AL691473,AK127270 NP_997348,BAC86909,Q6ZSN9 protein-coding 1605773 FLJ45422 FLJ45422 protein 12477932 441140 NM_001004349,AL662782,AL662832,AL844220,CH471081,AK127349,BC139904,BC141846 NP_001004349,EAX03278,EAX03279,BAC86939,AAI39905,AAI41847,Q6ZSK9 Hs.656020 protein-coding 1602260 FLJ45445 FLJ45445 protein 399844 Q6ZQS4 NM_001004321,AC010507,AC092299,AC097645,AK128780 NP_001004321,BAC87609,Q6ZQS4 Hs.512417 protein-coding 1602039 FLJ45455 FLJ45455 protein 12477932 388336 XM_001716031,XM_001717728,XM_001718603,AC005725,AC007510,AC055825,AK127379,AK128003,DQ070854 XP_001716083,XP_001717780,XP_001718655,BAC86949,AAY68487,Q6ZSJ9,AAI48580,AAI56587 Hs.663760 protein-coding 1603810 FLJ45537 FLJ45537 protein 12477932 401535 NM_001001709,AL158205,AK127445,BC132741,BC136791 NP_001001709,BAC86982,AAI32742,AAI36792,Q6ZSH1 Hs.657740 protein-coding 1603331 FLJ45717 FLJ45717 protein 388759 NM_207401,AL390728,AK127619 NP_997284,BAC87060,Q6ZS94,AAI56416 Hs.456511 protein-coding 1604911 FLJ45721 FLJ45721 protein 401123 Q6ZS92 AK127623,NM_207490,AC024132 BAC87062,Q6ZS92,NP_997373 Hs.429441 protein-coding 1602159 FLJ45803 FLJ45803 protein 399948 NM_207429,AP002448,AB096245,AK127703 NP_997312,BAC87092,Q6ZS62 Hs.125166 protein-coding 1606636 FLJ45831 FLJ45831 protein 400576 NM_001001684,AC005863,AK127731 NP_001001684,BAC87106,Q6ZS49 Hs.446616 protein-coding 1602985 FLJ45909 FLJ45909 protein 14702039 126432 NM_198445,AC011455,AA653541,AA779599,AK124506,AK126119,AK127808,BU196609 AAI52815,NP_940847,BAC87145,Q6ZS11 Hs.446933 FLJ44131 protein-coding 1601795 FLJ45910 FLJ45910 protein 388512 AC140008,CH471106,AC135052,NM_207390,AC010527 EAW84437,Q6ZS10,NP_997273 Hs.567933 protein-coding 1602028 FLJ45974 FLJ45974 protein 401337 Q6ZRY6 AK127870,NM_001001707,AC007964,AC074348,CH236957 BAC87170,Q6ZRY6,NP_001001707 Hs.531378 protein-coding 1602401 FLJ45983 FLJ45983 protein 399717 NM_207423,AL390294,AK128810 NP_997306,BAC87617,Q6ZQR6 Hs.669736 protein-coding 1604151 FLJ46082 FLJ46082 protein 12477932 389799 NM_207417,AL353701,AL354735,CH471090,AK128819,BC118593,BC124555 NP_997300,CAM14152,CAM14153,CAM23216,EAW88003,EAW88004,BAC87621,AAI18594,AAI24556,Q6ZQR2 Hs.201709 MGC148067|RP11-738I14.8 protein-coding 1602803 FLJ46210 FLJ46210 protein 389152 Q6ZRP0 NM_001004315,AC069525,AK128089 NP_001004315,BAC87269,Q6ZRP0 Hs.531377 protein-coding 1605489 FLJ46257 FLJ46257 protein 400932 Q5JWW9,Q6ZRL9 CH471138,AK128136,BC132762,BC132788,NM_001001693,AL117329 CAI39696,EAW73451,BAC87291,AAI32763,AAI32789,Q5JWW9,Q6ZRL9,NP_001001693 Hs.561058 protein-coding 1602158 FLJ46266 FLJ46266 protein 12477932 399949 NM_207430,NM_001100388,AP002008,CH471065,AI829856,AK128145,BC039505 NP_997313,NP_001093858,EAW67142,BAC87297,AAH39505,Q6PI97 Hs.411600 protein-coding 1601912 FLJ46321 FLJ46321 protein 389763 NM_001001670,AL355985,AK128831,CH471089 NP_001001670,EAW62640,BAC87631,Q6ZQQ2 Hs.209545 protein-coding 1606086 FLJ46347 hypothetical LOC389064 389064 Q6ZRH9 NM_001005303,AC018470,AK128215 NP_001005303,BAC87331,Q6ZRH9 Hs.516603 protein-coding 1604144 FLJ46358 FLJ46358 protein 400110 XM_001715330,XM_001717332,XM_001716376,AL445985,CH471075,AK127292,AK128225 XP_001715382,XP_001717384,XP_001716428,EAX08330,BAC86920,BAC87336,Q6ZRH4 Hs.591222 protein-coding 1606387 FLJ46361 deleted in malignant brain tumors 1 pseudogene 375940 NR_003570,AL731543,AK128228 BAC87338,Q6ZRH2 Hs.650695 pseudo 1602802 FLJ46481 FLJ46481 protein 389197 NM_207405,AC092442,AK128339,BX648674 NP_997288,BAC87391,Q6ZRC1 Hs.479065 protein-coding 1603807 FLJ46836 FLJ46836 protein 401554 Q6ZQW9 NM_207509,AL360004,AK128673,BC132936 NP_997392,BAC87564,AAI32937,Q6ZQW9 Hs.522437 protein-coding 1606627 FLJ46838 FLJ46838 protein 440865 NM_001007546,AC073082,AK128867 NP_001007547,BAC87651,Q6ZQN3 Hs.674050 protein-coding 1604505 FLJ90650 laeverin 17525158,16804865,15897020,15489334,14706636,14702039,12477932 206338 NM_173800,AC010282,AC034236,CH471086,AK027809,AK075131,AK291655,AY560010,BC036440,BC045809,BC060869,BC068560,BC070028,BC094716,BC109022,BC109023 AAH60869,NP_776161,EAW48946,EAW48947,EAW48948,EAW48949,EAW48950,BAC11422,BAF84344,AAS66719,AAH36440,AAH45809,AAH68560,AAH70028,AAH94716,AAI09023,AAI09024,Q0P5U8,Q6Q4G3,Q8NAM0 Hs.98288 APQ|LVRN|MGC125378|MGC125379 protein-coding 1354471 FLNA filamin A, alpha (actin binding protein 280) Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers.[supplied by OMIM] 1598953,1598954,1580863 9883725,12761501,15684392,2391361,18201775,18056414,17897634,17690686,17572668,17536008,12750292,12734206,12704190,12682292,12679033,12612583,12589795,12531889,12477932,12410386,12393796,12324467,12198493,12169691,12106908,12055638,12006559,11943148,11914408,11911837,11909861,11807098,11781567,11739414,11700320,11602572,11532987,11390380,11390379,11336782,11290523,11278410,11252955,11163396,11153914,11146652,11102480,11038172,10692483,10637311,10617615,10051605,9722563,9490735,9437013,9412467,9006895,8733135,8674032,8609175,8406501,8290091,8088819,7689010,3658675,2248958,2177445,1733165,17431908,17420725,17408621,17389601,17357080,17235394,17190868,17081983,17060905,16964243,16949617,16862148,16849481,16835913,16611986,16596676,16565220,16482509,16442073,16299064,16076904,16030015,15994863,15940695,15862967,15837785,15687500,15668422,15657061,15654694,15592455,15459826,15342556,15324660,15302935,15249610,15231748,15194946,15128042,15024089,14988809,14718723,14702039,14660646,12923176,12791664,12753905,208386,12119179,14743216,11320256 1598953,1598954 2316 NM_001456,NM_001110556,BX664723,BX936346,CH471172,L44140,X70085,AB191259,AB191260,AK074048,AK090427,AL050396,AL157419,BC014654,BC028089,BC041179,BC067111,BC109289,BP235228,CR608106,CR614119,CR625058,X53416 NP_001447,NP_001104026,CAI43197,CAI43198,CAI43199,CAI43200,CAI43201,CAI43225,CAI43226,CAI43227,EAW72744,EAW72745,EAW72746,EAW72747,EAW72748,AAA92644,CAA49690,BAD52435,BAD52436,BAB84874,BAC03408,AAH14654,AAH41179,AAH67111,AAI09290,CAA37495,P21333,Q2VP91,Q5HY53,Q5HY54,Q5HY55,Q60FE5,Q60FE6,Q6NXF2,Q86TQ3,Q8NF52,Q8TES4,Q96C61 Hs.195464 GDB:137276 ABP-280|ABPX|DKFZp434P031|FLN|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|filamin A protein-coding 1323621 FLNB filamin B, beta (actin binding protein 278) 1601168,1580863,1601170 8327473,10676904,16076904,9694715,9651345,16964243,16801345,16752402,15994868,15592455,15054484,14991055,14702039,12525170,12496242,12393796,12077712,12006559,11807098,11739414,11336782,11252955,11153914,10449914,9437013,7485161,12119179 1601168,1601170 2317 NM_001457,AC114399,AC137936,AF191633,AF353667,CH471055,AB191258,AB209889,AF042166,AF043045,AF238609,AF353666,AK022486,AL137574,AL833551,BX641085,CR618796,CR749793,M62994 NP_001448,AAF72339,AAL68440,AAL68441,AAL68442,AAL68443,EAW65352,EAW65353,EAW65354,EAW65355,EAW65356,EAW65357,BAD52434,BAD93126,AAC39842,AAC33845,AAF97046,AAL68439,CAB70818,CAE46040,CAH18654,AAA35505,O75369,Q60FE7,Q68CT4,Q8N7M7,Q8WXT3 Hs.476448,Hs.666396 GDB:216171,GDB:682448 ABP-278|AOI|DKFZp686A1668|DKFZp686O033|FH1|FLN1L|LRS1|SCT|TABP|TAP|filamin B protein-coding 1318791 FLNC filamin C, gamma (actin binding protein 280) This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. 1580863 11171996,11153914,11102480,11038172,10984498,10658210,10629222,9791010,9694715,9412467,9006895,8681137,8088838,7689010,12119179,15385448,16076904,17987659,17825253,17412757,17379241,17174070,15929027,15642266,15461588,15159586,14702039,14506720,12525170,12480088,12438262,12376540,12006559,11842093,11739414,11252955 2318 NM_001458,NM_001127487,AC025594,AF184126,AF252549,AJ132990,CH236950,CH471070,AB208865,AF089841,AF146692,AJ012737,AK001048,F30928,X70083,X70084 NP_001449,NP_001120959,AAF68195,AAF67190,CAB51535,EAW83689,EAW83690,EAW83691,BAD92102,AAD12245,AAF80245,CAB46442,CAA49688,CAA49689,Q14315,Q59H94 Hs.58414 GDB:206564 ABP-280|ABP280A|ABPA|ABPL|FLJ10186|FLN2 protein-coding 736684 FLOT1 flotillin 1 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. FLOT1 encodes a caveolae-associated, integral membrane protein. The function of flotillin 1 has not been determined. 1580863 16189514,15120622,17587329,17307333,17113085,17081065,16480949,16341206,16198165,15939299,15862967,15545008,15489334,15469992,15128873,14708344,12477932,11598189,11481476,11167132,11159550,11042152,11001060,10931946,10462713,9373149,8125298,10212252,9153235,17600709 10211 NM_005803,AB088101,AB103607,AB202099,AL662797,AL662848,AL845353,BA000025,BX248307,CH471081,CR936878,AF085357,AF089750,AF117234,AK000816,AK222530,BC001146,BC128154,BT007077,CR456946,CR595648 NP_005794,BAC54934,BAF31269,BAE78620,CAI18202,CAI17443,CAI41895,CAI41896,BAB63320,CAM25936,EAX03325,EAX03326,EAX03327,CAQ06821,AAD40192,AAC35387,AAF17215,BAD96250,AAH01146,AAI28155,AAP35740,CAG33227,O75955,Q53HQ0,Q5JP64,Q5ST80,Q6IB58,ABM92256,ABM84741 Hs.179986 GDB:9955693 protein-coding 735666 FLOT2 flotillin 2 Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. 1580863 10212252,14667819,8051082,12493773,1769667,18337418,17854803,17600709,17307333,17113085,17013097,16521037,15492257,15489334,12477932,12107410,11999340,11159550,10462713,9373149,8125298,16189514 2319 NM_004475,AC024267,CH471159,AK225491,BC003683,BC017292,BT019477,BT019478,CA390100,CR541784,CR542265,CR608595,M60922 NP_004466,EAW51152,EAW51154,AAH03683,AAH17292,AAV38284,AAV38285,CAG46583,CAG47061,AAA65729,Q14254,Q6FG43,Q9BTI6,ABM83617,ABM86861 Hs.514038 GDB:127271 ECS-1|ECS1|ESA|ESA1|M17S1 protein-coding 1345456 FLRT1 fibronectin leucine rich transmembrane protein 1 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. 1580863 10644439,12975309,12477932,9110174,8619474 23769 NM_013280,AP006333,CH471076,AF007139,AF169675,AK289931,AY358308,BC018370 NP_037412,EAW74194,AAC19151,AAF28459,BAF82620,AAQ88675,AAH18370,O43408,Q8WVA2,Q9NZU1 Hs.584876 GDB:10795305 MGC21624 protein-coding 1318426 FLRT2 fibronectin leucine rich transmembrane protein 2 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRT family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. 1580863 10644439,15489334,15340161,14702039,12975309,12477932,9455477,8889548 23768 NM_013231,AL049775,AL132641,AL136241,CH471061,AA442817,AF169676,AK056649,AY358287,BC126249,BC130290,BQ012006,CB267726,CB306837 NP_037363,EAW81352,AAF28460,AAQ88654,AAI26250,AAI30291,O43155 Hs.533710,Hs.624735,Hs.706878 GDB:10795307 KIAA0405 protein-coding 1350548 FLRT3 fibronectin leucine rich transmembrane protein 3 FLRT1, FLRT2 and FLRT3 are members of the fibronectin leucine rich transmembrane protein (FLRT) family. They may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. FLRT3 shares 55% amino acid sequence identity with FLRT1 and 44% identity with FLRT2. FLRT3 is expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 1580863 16303743,15489334,14702039,12975309,12477932,11780052,10819331,10644439 23767 NM_198391,NM_013281,AL132826,CH471133,CQ782875,AB040902,AF169677,AK027297,AK027670,AK027694,AK074883,AK074909,AL529481,AY358319,BC020870,CD654700,CR596010 NP_938205,NP_037413,CAB86687,EAX10300,EAX10301,CAF86103,BAA95993,AAF28461,BAB55023,BAB55282,BAB55303,BAC11265,BAC11284,AAQ88685,AAH20870,Q542Z9,Q8NC95,Q9NZU0,ABM82953,ABM86145 Hs.41296 GDB:10795309 protein-coding 737202 FLT1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) Oncogene FLT belongs to the src gene family and is related to oncogene ROS (MIM 165020). Like other members of this family, it shows tyrosine protein kinase activity that is important for the control of cell proliferation and differentiation. The sequence structure of the FLT gene resembles that of the FMS gene (MIM 164770); hence, Yoshida et al. (1987) proposed the name FLT as an acronym for FMS-like tyrosine kinase.[supplied by OMIM] 1582493,1580863,1582494,1582498,704404,2289945,1626621,2289965,2289936,2289963,2289966,2289937,2289948,2289960,2289961,2289962,2289964 15166498,15160911,14996703,14967383,14760936,14687619,14684734,14674128,14654077,14607815,14602804,14585871,14512169,12949011,12920240,12865438,12824880,12727995,12670505,12651930,12607599,12543719,12509223,12477932,12439912,12426207,12406876,12133473,12107410,12091880,12023386,11986954,11953105,11862609,11852061,11839635,11824379,11811792,11807987,11806246,11751905,11741094,11693202,11513746,11312102,11289156,11157498,11134362,11056124,10865839,10842181,10749680,10738243,10737800,10642585,10585578,10579917,10543948,10471394,9973224,9931493,9751730,9722576,9600074,9472937,9452434,9398617,9299537,9269752,9256359,8621427,17118734,17109193,17088944,17071533,17013089,16968555,16959214,16835828,16786116,16685275,16671089,16530326,16488907,16432214,16344560,16341007,16286478,16251410,16249383,16248895,16169405,16095053,16021053,16005848,15886253,15817662,15817508,15711751,15705187,15703780,15665766,15649874,15610528,15610240,15589171,15503825,15492987,15489334,15472115,15284201,15272021,15183893,17189520,8248162,10748050,10194760,2158038,11278319,18343373,18315732,18287964,18284215,18175242,18175241,18097592,18079407,18006819,17982238,17975225,17964871,17956955,17956952,17891484,17722983,17696935,17661207,17615362,17599955,17570036,17550303,17507435,17486129,17409768,17379761,17336974,17287067,17259514,17242190,17210583,17197602,8126087,3115921,3040650,12796773,12810700,14600159,7657594,8111406,7707437 1582493,1582494,1582498,2289945,1626621,2289965,2289936,2289963,2289966,2289937,2289948,2289960,2289961,2289962,2289964 2321 NM_002019,AL138712,AL139005,CH471075,CS172284,D00133,AB209050,AF063657,AK292936,BC029849,BC039007,BE180461,BU151621,CA396081,CR593658,CR606445,CR615327,DA844548,DQ836394,DQ836395,DQ836396,EF491868,EF491869,EF491870,EU443152,S77812,S77814,U01134 NP_002010,CAI14846,EAX08431,EAX08432,CAJ33638,BAA00080,BAD92287,AAC16449,BAF85625,AAH39007,ABI53803,ABI53804,ABI53805,ABS32268,ABS32269,ABS32270,ACA21474,AAB34001,AAB34002,AAC50060,P17948,Q16332,Q16333,Q59GQ9,Q5TAR1 Hs.654360 GDB:120616 FLT|VEGFR1 fms-like tyrosine kinase 1 protein-coding 1321714 FLT3 fms-related tyrosine kinase 3 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. The receptor consists of an extracellular domain composed of five immunoglobulin-like domains, one transmembrane region, and a cytoplasmic kinase domain split into two parts by a kinase-insert domain. The receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. 1580863,1598955 8394751,7507245,18450602,18336585,18270328,18261272,18192505,18192111,18184863,18156731,18096476,18081718,18068628,18067020,16116483,16076867,16046528,16029447,16015387,15996732,15978940,15973451,15959528,15921740,15902284,15863200,15831474,15797998,15781338,15778081,15770067,15769897,15710585,15674343,15650056,15645287,15604894,15604885,15583855,15574429,15363457,15352981,15345593,15289019,15253381,15242879,15178581,15167911,15166029,15061200,15059064,15054042,15044257,16185475,14981546,14977832,14759363,14737077,14670924,14654525,14630076,14604974,14562119,14504097,12969963,12935959,12926083,12854887,12842996,12816873,12691136,12681969,12676789,12481903,12477932,12468438,12468433,12393674,12384447,12239147,12239146,12070009,12060771,12036858,11983110,11971190,11535508,11442493,11290608,11133746,11091200,11027663,10698507,10482988,10409713,10080542,10022833,9918857,9651358,9614102,8946930,7789184,7692230,2004790,7505204,18067018,18024407,18024405,17983653,17965322,17957027,17943971,17940205,17936561,17910045,17881646,17881645,17851558,17851551,17763464,17690703,17668209,17650443,17620055,17606455,17598835,17584026,17579862,17550846,17498302,17485549,17456725,17442779,17387224,17312001,17268528,17230226,17229632,17128418,17105820,17064989,17056111,17036374,16990788,16990784,16949153,16861351,16809615,16684964,16642044,16598313,16533526,16517725,16502586,16410449,16410383,16368883,16326981,16320249,16263793,16263569,16234090,16213360,14982881 1598955 2322 NM_004119,NG_007066,AL356915,AL445262,AL591024,CH471075,U82002,AW057705,BC036028,BC126350,BI461248,L36162,U02687,Z26652 NP_004110,CAH70634,EAX08424,EAX08425,AAB52916,AAH36028,AAI26351,AAA35487,AAA18947,CAA81393,P36888,Q05BN8,Q5VTU6,Q99815 Hs.507590 GDB:125193 CD135|FLK2|STK1 protein-coding 1353824 FLT3LG fms-related tyrosine kinase 3 ligand 1580863 8145851,8180375,17949888,15914030,15905588,15728521,15489334,15226184,14764540,14670916,12969963,12817014,12759428,12676789,12477932,12223523,12036900,12002675,11983110,11956621,11877288,11847009,11721383,11710537,11159533,10881197,10637491,9651358,9590652,7824267,7566977,7505204 2323 AC010619,CH471177,U29874,AI792400,BC006331,BC011914,BC028001,BC126293,CR609170,U03858,U04806,NM_001459 Q05C96,NP_001450,EAW52488,EAW52489,EAW52490,EAW52491,EAW52492,EAW52493,EAW52494,AAA90949,AAA90950,AAH06331,AAH11914,AAH28001,AAI26294,AAA19825,AAA17999,P49771 Hs.428 GDB:344928 FL protein-coding 733488 FLT4 fms-related tyrosine kinase 4 This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. 704404,1580863,1334463 16530705,9012504,11574540,8386825,18212541,18008346,18006056,17948123,17935478,17926187,17761831,17686546,17597103,17539024,17487423,17458866,17088944,17044733,16959214,16755294,16624815,16525637,16335952,16116610,15880525,15878864,15746084,15693535,15474514,15389531,15340161,15297417,15107801,15102829,14760756,14687619,14648657,12881528,12819011,12477932,12393704,12168824,12088335,12048269,11877295,11807987,11553610,10856194,10835628,10579917,9927207,9817924,9435229,8700872,8662748,7970715,7692369,7675451,1327515,1319394,1310071,12810700 1334463 2324 AAB23636 X69878,NM_182925,NM_002020,AC122714,CH471165,CS067238,CS172288,CS172403,CS172817,CS172819,AB209637,AK291679,AY233382,AY233383,BC027302,CA438330,DB455035,S66407,U43143,X68203 CAA49505,AAB23636,P35916,Q16067,Q59F24,Q86W07,Q86W08,Q8TAK1,NP_891555,NP_002011,EAW53749,EAW53750,CAI84582,CAJ32888,CAJ33671,CAJ33685,CAJ32905,BAD92874,BAF84368,AAO89504,AAO89505,AAH27302,AAB28539,AAA85215,CAA48290 Hs.646917 GDB:128732 FLT41|LMPH1A|PCL|VEGFR3 protein-coding 1606303 FLVCR1 feline leukemia virus subgroup C cellular receptor 1 10648427,16439531,15996880,15489334,15369674,14702039,12477932,11943475,10400745 28982 NM_014053,AC104333,CH471100,DQ496107,AF118637,AK001419,BC048312 NP_054772,EAW93374,ABF47096,AAD45243,BAA91679,AAH48312,Q1HE16,Q9Y5Y0 Hs.7055 FLVCR protein-coding 1352163 FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2 16439531,15489334,14729055,14702039,12508121,12477932,55640 55640 NM_017791,AC007182,CH471061,AF456126,AK000378,AK027804,AY260572,AY260577,BC001448,BC019087,BC026295 NP_060261,AAD51374,EAW81235,AAO15528,BAA91126,BAB55381,AAP86633,AAP86638,AAH19087,Q53ZT9,Q9UPI3 Hs.509966,Hs.615289 C14orf58|CCT|FLJ20371|FLVCRL14q protein-coding 1346259 FLYWCH1 FLYWCH-type zinc finger 1 15146197,14702039,12477932,11230166,10997877,8889548 84256 NM_032296,NM_020912,AC004034,AC004234,AC004235,CH471112,AB046772,AK026885,AK055777,AK057022,AK092434,AK127235,AL136585,BC001973,BC018712,BC028572,BU730169,CN359886 NP_115672,NP_065963,EAW85450,EAW85451,EAW85452,EAW85453,EAW85454,BAB13378,BAC86896,CAB66520,AAH01973,AAH18712,AAH28572,Q4VC44 Hs.655321 protein-coding 1353802 FLYWCH1L FLYWCH-type zinc finger 1-like 497263 1602659 FLYWCH2 FLYWCH family member 2 12477932 114984 NM_138439,AC004234,CH471112,BC014089,CR601271 NP_612448,EAW85455,AAH14089,Q96CP2 Hs.534525 hypothetical protein bc014089 protein-coding 1606398 FMN1 formin 1 15202026,14647292,12477932,10631086,10199968,1673046 342184 NM_001103184,AC018515,AC019278,AC055874,AC090098,AC090877,AC090982,M38684,M38685,AI417633,AL833157,BC029107,BC103692,BC107593,CR749487,CR749577 NP_001096654,AAI03693,AAI07594,CAH18313,Q68DA7 Hs.657649,Hs.703339 GDB:125259 DKFZP686C2281|DKFZp686C2281|DKFZp686G2387|FLJ45135|FMN|LD|MGC125288|MGC125289 protein-coding 1345437 FMN2 formin 2 Formin homology (FH) domain proteins (e.g., FMN; MIM 136535) play a role in cytoskeletal organization and/or establishment of cell polarity.[supplied by OMIM] 1580863 16710414,15866570,15289902,12477932,12447394,10781961 56776 NM_020066,AL359918,AL513342,AL590490,AL646016,CH471098,AB209153,AF218941,AF218942,AF225426,BC014364,BC112335,BC112361,DB476003,DN990332 NP_064450,EAW70082,BAD92390,AAF72884,AAF72885,AAG09728,AAH14364,AAI12336,AAI12362,Q2M1H5,Q5T3Q9,Q96L17,Q9HBL1,Q9NZ56 Hs.24889 GDB:11508645 protein-coding 1322289 FMNL1 formin-like 1 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. 1580863 17081983,15489334,15231748,14592423,12684686,12632087,12477932,10958683,9799091,9787083,16189514 752 NM_005892,AC008105,CH471178,AF432213,AJ008112,AJ008118,AJ008119,AK131091,AY278319,BC001710,BC009000,BC021906,BC042925,BC064572,BC073988,BC111564,CR456759,CR616114 NP_005883,EAW51534,EAW51535,EAW51536,EAW51537,EAW51538,AAL99920,CAA07870,BAC85141,AAP32476,AAH01710,AAH09000,AAH21906,AAH73988,AAI11565,CAG33040,O95466,Q2T9F0,Q6ZNK3 Hs.100217 C17orf1|C17orf1B|FHOD4|FMNL|KW-13|MGC133052|MGC1894|MGC21878 protein-coding 1315771 FMNL2 formin-like 2 This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. 15231748,14702039,12684686,12477932,11572484,10737800,1538749,16189514 114793 NM_052905,AC012066,AC012443,AC093794,CH471058,AB067489,AI261893,AI498522,AI870367,AI885827,AK094865,AK131316,AL834396,AW293867,AW341595,AW811241,BC014343,BC036492,BC113878,BC114438,BC167159,BQ067763,BU633028,CD105119,M78344 NP_443137,AAX88959,EAX11485,EAX11486,BAB67795,BAD18479,CAD39058,AAH14343,AAI13879,AAI14439,AAI67159,Q4ZG52,Q66K68,Q6ZN96,Q8N476,Q96CE5,Q96PY5 Hs.654630 FHOD2|FLJ37546 protein-coding 1606996 FMNL3 formin-like 3 The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. 15231748,14702039,9171351,12477932,12684686 91010 NM_198900,NM_175736,AC020612,CH471111,AB095934,AK095874,AK127200,AK128195,AL162062,BC033181,BC090955,BC159100,BQ707902,CR596925 NP_944489,NP_783863,EAW58086,EAW58087,EAW58088,BAC23110,BAC87319,CAB82400,AAH33181,AAI59101,Q8IVF7,Q8N4Y7,AAI60099 Hs.179838 DKFZp762B245|FHOD3|FLJ45265|MGC45819|WBP3 protein-coding 736452 FMO1 flavin containing monooxygenase 1 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. 1580863 1712018,17127561,16710414,16531493,16183778,15489334,15203093,14702039,12829732,12642475,12527699,12477932,11809920,11725960,10950857,9094723,8486388,8311461,7720101,8128486 2326 NM_002021,AL021026,AL031274,AL445673,AY879266,CH471067,AK097039,AK290113,BC047129,CR619998,M64082 NP_002012,CAI22845,CAI22846,CAI21382,CAI21383,AAW56076,EAW90892,EAW90893,EAW90894,EAW90895,BAF82802,AAH47129,AAA52457,Q01740,Q5T1T8 Hs.1424 GDB:126689 protein-coding 733627 FMO2 flavin containing monooxygenase 2 (non-functional) The flavin-containing monooxygenases are NADPH-dependent enzymes that catalyze the oxidation of many drugs and xenobiotics. In most mammals, there is a flavin-containing monooxygenase that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, in humans, this enzyme is truncated and is probably rapidly degraded. The protein encoded by this gene represents the truncated form and apparently has no catalytic activity. A functional allele found in African Americans has been reported, but no sequence evidence has been deposited to support the finding. This gene is found in a cluster with the FMO1, FMO3, and FMO4 genes on chromosome 1. 1580863 9804831,16710414,15864117,15489334,15355885,14702039,12527699,12477932,11744609,11042094,8889548,8786146,8311461,8128486,7720101,1542660,1417778 2327 NM_001460,AL021026,AY916056,CH471067,AI821378,AK098145,AL833218,BC005894,BT006979,CA312067,Y09267 NP_001451,AAW82431,EAW90889,CAI46191,AAH05894,AAP35625,CAA70462,Q5JPC7,Q86U73,Q99518,ABM84459,ABM84674 Hs.144912 GDB:335399 FLJ40826|FMO1B1 flavin containing monooxygenase 2 protein-coding 734270 FMO3 flavin containing monooxygenase 3 1580863,1626466,1626461 9207220,18305374,18180394,17885620,17881660,17786630,17584019,17559352,17531949,5048998,4195988,1542660,7720103,7568243,17142560,17096187,16996766,16858129,16800822,16710414,16600650,16598836,16481213,16324215,16214918,16183778,15623613,15618753,15489334,15203093,12903042,12893987,12814961,12527699,12477932,11809920,11717182,11551524,11266081,11191884,10479479,10338091,9536088,9417913,9398858,9373149,8654418,8486388,8125298,8117928,8104117,17257434,7749747 1626466,1626461 2328 NM_001002294,NM_006894,AL021026,AY895830,CH471067,U39960,U39961,U39962,U39963,U39964,U39965,U39966,U39967,AI478384,AK223166,BC032016,M83772,Z47552 NP_001002294,NP_008825,AAW65372,EAW90886,EAW90887,EAW90888,AAC51932,BAD96886,AAH32016,AAA86284,CAA87632,P31513,Q53FW5,ABM83355,ABM86569 Hs.445350 GDB:135136 FMOII|MGC34400|dJ127D3.1 flavin-containing monooxygenase 3 protein-coding 731768 FMO4 flavin containing monooxygenase 4 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. 1580863 1417778,16710414,15489334,12527699,12477932,11551524,8702731,8311461,8128486,7720101 2329 NM_002022,AL031274,AY882422,CH471067,BC002780,BT007444,Z11737 NP_002013,CAB42008,AAW56938,EAW90896,EAW90897,AAH02780,AAP36112,CAA77797,P31512,Q53XR0,ABM81610,ABM84792 Hs.386502 GDB:127981 FMO2 protein-coding 733168 FMO5 flavin containing monooxygenase 5 Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. 1334486,1580863 16710414,16183778,14702039,12527699,12490590,12477932,11551524,11128045,9373149,9305407,9119381,8786146,8311461,8128486,8125298,7872795,7720101 1334486 2330 NM_001461,AL356378,AY902236,CH471223,AK022172,AK222728,AK225739,BC020872,BC035687,L37080,Z47553 NP_001452,CAH72648,CAH72649,AAW69390,EAW50939,EAW50940,EAW50941,EAW50942,EAW50943,BAB13975,BAD96448,AAH35687,AAA67849,CAA87633,P49326,Q53H53,Q8IV22,Q9HA79 Hs.642706 GDB:335372 flavin containing monooxygenase protein-coding 1603333 FMO6P flavin containing monooxygenase 6 pseudogene 16710414,15077013,12527699,12130684 388714 NR_002601,AL021026,AK130511 O60774,Q5JZE7 Hs.448988 FLJ27001|FMO6 pseudo 1605888 FMO9P flavin containing monooxygenase 9 pseudogene 15077013,12477932 116123 NR_002925,AL611962,BC014341 CAH74008,AAH14341,Q96CE7 Hs.348539 MGC23941 pseudo 1353289 FMOD fibromodulin Fibromodulin is a member of a family of small interstitial proteoglycans, containing a central region composed of leucine-rich repeats with 4 keratan sulfate chains flanked by disulfide-bonded terminal domains. It may participate in the assembly of the extracellular matrix as it interacts with type I and type II collagen fibrils and inhibits fibrillogenesis in vitro. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. 1580863 8093006,17623650,17293598,16046396,15741214,15471955,14702039,12477932,11400162,11012890,9688269,9573366,8889548,8357838,7919526,7851907,16189514 2331 NM_002023,AL359837,CH471067,X72913,AK092899,AK291632,AL542756,BC035281,BQ188750,CR598810,CR599949,U05291,X75546 NP_002014,EAW91477,EAW91478,CAA51418,BAF84321,AAH35281,AAA16153,CAA53233,Q06828,Q12833,Q8IV47,ABM83038,ABM86232 Hs.519168 GDB:228979 SLRR2E protein-coding 735919 FMR1 fragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. 1580863,704404,1601178 7692601,10556305,16407062,10888599,12837692,8401578,18472033,18471319,18427356,18413472,18384784,18384775,18373410,18323308,18310677,18310361,18273822,18225979,18211155,18181681,18074381,18057320,18057083,17966892,17962727,17932962,17922850,17917121,17881655,17850748,17714511,17674408,17620491,17588953,17548778,17506288,17290448,17283214,17196195,17179750,17101793,17097142,17044853,16907702,16905681,16891414,16819831,16793928,16636078,16508954,18093976,16500891,16500716,16456258,16361284,16337617,16319129,16271017,16184602,16161415,16117724,16078053,16055059,16049924,16006558,15971024,15956167,15950084,15930016,15929093,15879417,15861180,15805463,15742217,15741991,15659577,15642922,15629215,15617547,15608041,15563507,15483640,15483045,15381419,15381024,15377638,15300658,15282548,15175277,15121898,15096575,15065016,15000256,14993603,14755444,14747503,14746957,14599277,14570712,12950170,12927206,12810982,12745094,12596051,12594214,12529854,18165971,12515381,12477932,12417734,12388589,12378270,12232854,12210320,12147688,12116303,12116230,12112763,12107447,11992259,11897823,11854169,11840495,11545690,11445641,11443541,11438699,11415517,11367701,11256870,11162447,11142761,11142760,11119302,10567518,10527928,10398250,9829913,9659908,9375856,9302998,8668200,8528261,8515814,8504300,8490650,8401531,8401496,8348153,8156595,8069329,7825604,7781595,7688265,7670500,7633450,7489725,2988332,1913811,1757956,1710175,1572655,15696166 1601178 2332 L29074,S76590,AB209188,BC038998,BC086957,M67468,S65791,X69962,NM_002024,NG_007529,CH471171,L19476,L19477,L19478,L19479,L19480,L19481,L19482,L19483,L19484,L19485,L19486,L19487,L19488,L19489,L19492,L19493 AAA62469,AAB18828,AAB18829,AAB18830,AAB18831,AAB18832,AAB18833,AAD14228,BAD92425,AAH38998,AAH86957,AAA52458,AAB28395,CAA49586,Q06787,Q59GC1,Q5PQZ6,Q8IXW7,NP_002015,EAW61293,EAW61294,EAW61295,EAW61296,EAW61297,EAW61298,EAW61299,EAW61300,EAW61301,EAW61302,EAW61303,AAA62452,AAA62453,AAA62454,AAA62455,AAA62456,AAA62457,AAA62458,AAA62459,AAA62460,AAA62461,AAA62462,AAA62463,AAA62464,AAA62465,AAA62468 Hs.103183 GDB:129038 FMRP|FRAXA|MGC87458 fragile x mental retardation syndrome 1 homolog protein-coding 1346520 FMR1NB fragile X mental retardation 1 neighbor 737633 15489334,14702039,12601173,12477932 737633 158521 NM_152578,CH471171,AK098602,AY211917,BC034320 NP_689791,EAW61291,EAW61292,BAC05349,AAO65170,AAH34320,Q8N0W7 Hs.128580 FLJ25736|NY-SAR-35 protein-coding 1354505 FMR3 fragile X mental retardation associated 3 56247 GDB:10796789 736627 FN1 fibronectin 1 This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants. However, the full-length nature of some variants has not been determined. 1580863,1358624,704404,1601179 16982604,16978691,16882662,16839338,16757476,16621928,16495290,16378831,16375583,16336961,16335952,16322219,16277979,16159961,16150826,16091757,16083879,16055535,15961545,15890670,15855153,15799029,15721303,15717924,15699160,15652337,15645125,15485890,15467744,15456743,15456495,15384859,15331608,15265957,15247227,15231748,15213410,15161923,14760718,14737076,14709558,14702039,14695199,14662883,14645245,14602715,14558920,12917446,12902636,12810082,12802498,12761244,12736686,12631068,12621118,12538576,12538453,12535082,12527107,12497612,12486316,12477932,12468382,12401883,12388756,12270980,12225811,12225805,12180907,12149247,12127832,7963647,7690138,7583666,7559467,7519849,7499434,7493623,7050098,6981115,6693419,6688418,6630202,6462919,6304699,6200322,6092370,4019516,3997552,3988746,3943369,3900070,3770201,3770189,3593230,3478690,3375063,3031656,3021206,3024962,10075919,1423622,7989369,15609325,15308636,444675,12105189,12100475,12091360,12069579,12034705,11981027,11960984,11956183,11937267,11928812,11891225,11867643,11867580,11864705,11847210,11832485,11829448,11801679,11801638,11795204,11775745,11773026,11768240,11752017,11751853,11737888,11686302,11605051,11500098,11423128,11419941,11344214,11342427,11311202,11285216,11285119,11276204,11157741,11149921,11134254,11023498,11010812,10848816,10783396,10772816,10647176,10470109,10470078,10464263,10196121,9733622,9651579,9636140,9626063,9514732,9501082,9361795,9339851,9334230,9211865,9169408,9117345,9016396,8997243,8905624,8756760,8599839,8548820,8468356,8449034,8308892,8168508,8120888,8120056,8063866,14718574,18343220,18340378,18332212,18268355,18064631,18006840,17949711,17929131,17879163,17704536,17636193,17596138,17554369,17526550,17512904,17490871,17468934,17425334,17416372,17273763,17266699,17237224,17187346,17136547,17081983,17027088,17015452,17003032,16986166,16984808,3003095,2992939,2992573,2989004,2867902,2822387,2745554,2531657,2414772,2229073,2012601,1694173,1532572,1468447,1409674,1400330,1372909,1311202,9443108,1875953,8173552,10706716,8952048,12119179,8997639,1959621,11180285,10451539,15331737,8663002,2138612,11423542,8798654,12119020,15806100,10823831 1358624,1601179 2335 M12549,M15801,M18179,X07717,X07718,AB191261,AB209287,AB209840,AF130095,AF312399,AI033037,AJ276395,AJ320525,AJ320526,AJ320527,AJ535086,AK026737,AK094153,AL832202,AL832771,BC005858,BC016875,BC078656,BC100030,BC117176,BQ005645,BT006856,BX537590,BX538017,BX538018,BX538045,NM_212474,NM_002026,NM_212478,NM_212482,NM_212475,NM_054034,AC012462,AC073284,CH471063,NM_212476,AJ849445,BX640608,BX640638,BX640731,BX640802,BX640803,BX640875,BX640920,BX640999,BX641150,BX649182,CR593359,CR598146,CR601543,CR602860,CR606847,CR611619,CR749281,CR749316,CR749317,CR749666,CR936623,EF550130,EF550131,EF550132,EF550133,EF550134,EF550135,M10905,M14059,M14060,M27589,M27590,U41724,U41850,U42404,U42455,U42456,U42457,U42458,U42592,U42593,U42594,U60067,U60068,X02761 EAW70546,EAW70547,EAW70548,AAA58483,AAA53376,AAA52461,CAB52437,CAB52436,BAD52437,BAD92524,BAD93077,AAG35520,AAG30571,CAC20427,CAC86914,CAC86915,CAC86916,CAD59389,CAD91166,AAH05858,AAH16875,AAI17177,AAP35502,CAD97791,CAD97964,CAD97965,CAD97984,EAW70545,NP_997641,NP_997639,NP_002017,NP_997643,NP_997647,NP_997640,NP_473375,AAX76513,AAY24063,EAW70530,EAW70531,EAW70532,EAW70533,EAW70534,EAW70535,EAW70536,EAW70537,EAW70538,EAW70539,EAW70540,EAW70541,EAW70542,EAW70543,EAW70544,Q6PJE5,Q7L553,Q7Z391,Q9H382,Q9UQS6,CAH60958,Q6N084,CAE45714,CAE45786,CAE45847,CAE45885,CAE45932,CAE45958,CAE46002,CAE46200,CAH18136,CAH18171,CAH18172,CAH18457,CAI56766,ABR68534,ABR68535,ABR68536,ABR68538,ABR68539,AAA52462,AAA52463,AAA52464,AAA52465,AAA52466,AAD00013,AAD00014,AAD00015,AAD09448,AAD09449,AAD04751,AAD09450,AAD00017,AAD00018,AAD00019,AAD11500,AAD10853,CAA26536,O95608,O95617,P02751,Q14327,Q14328,Q53S27,Q564H7,Q59G22,Q5CZ99,Q68CX6,Q6MZF4,Q6MZM7,Q6MZS0,ABR68537 Hs.203717 GDB:119135 CIG|DKFZp686F10164|DKFZp686H0342|DKFZp686I1370|DKFZp686O13149|ED-B|FINC|FN|FNZ|GFND2|LETS|MSF protein-coding 1350348 FN3K fructosamine 3 kinase FN3K catalyzes phosphorylation of fructosamines formed by glycation, the nonenzymatic reaction of glucose with primary amines followed by Amadori rearrangement. Phosphorylation of fructosamines may initiate metabolism of the modified amine and result in deglycation of glycated proteins (Delpierre et al., 2000 [PubMed 11016445]).[supplied by OMIM] 1580863 16037310,15489334,15381090,15331600,15102834,14702039,14641062,12477932,11975663,11522682,11016445,16920277,16523184 64122 NM_022158,AC024361,CH471099,AJ404615,AK054838,BC042680,CR625457 NP_071441,EAW89819,EAW89820,CAC16393,AAH42680,Q9H479 Hs.151135 protein-coding 1606224 FN3KRP fructosamine-3-kinase-related protein FN3KRP and FN3K (MIM 608425) protect proteins from nonenzymatic glycation by phosphorylating the modified amino acid. This phosphorylation destabilizes the sugar-amine linkage and leads to spontaneous decomposition (Conner et al., 2004 [PubMed 15381090]).[supplied by OMIM] 17686456,16920277,16037310,15489334,15381090,15137908,14702039,14633848,12477932,11230166 79672 NM_024619,AC024361,CH471099,AK022233,AL136631,AY360465,BC001458,BC007611,BC014408,CR533461,CR590234,CR590236,CR590420,CR592111,CR601595,CR608301,CR615772,CR617786,CR618775 NP_078895,EAW89817,BAB13992,CAB66566,AAQ72344,AAH01458,AAH07611,AAH14408,CAG38492,Q6FIG5,Q9HA64,EAW89818 Hs.31431 FLJ12171 protein-coding 1350700 FNBP1 formin binding protein 1 The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. 15252009,17512409,16964243,16630611,16418535,16326391,16318909,16193335,15592455,15489334,15302935,15164053,15144186,15047863,14702039,14596906,12736724,12477932,12244061,12023017,11438682,11431473,9628581 23048 NM_015033,AL136141,AL158207,AL832949,CH471090,AB011126,AF265550,AK000975,AK001616,AK023681,AK090963,AL049935,AW575478,AY952886,BC009262,BC018159,BC062463,BC101755,CK005680,CR616499 NP_055848,CAI13909,CAI13910,CAI13911,EAW87916,EAW87917,EAW87918,EAW87919,BAA25480,AAK49824,BAA91451,BAB14638,AAH62463,AAI01756,Q5TC89,Q96RU3 Hs.189409 FBP17|KIAA0554|MGC126804 protein-coding 1346897 FNBP1L formin binding protein 1-like The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. 18191793,16885158,16757518,16710414,16630611,16418535,16326391,16169070,15489334,15260990,14702039,14654988,12477932 54874 NM_001024948,AX058596,CH471097,AK000282,AK025526,AK026988,NM_017737,AC095034,AL109613,AL512651,AY514449,BC062477,BC074891,BC074892,BX476921,CR612845 CAC22513,EAW73069,EAW73070,EAW73071,BAA91051,NP_001020119,NP_060207,CAI18952,CAI18953,CAI18954,AAR98814,AAH62477,AAH74891,AAH74892,Q5T0N5 Hs.134060 C1orf39|TOCA1 protein-coding 1319467 FNBP4 formin binding protein 4 15302935,15231748,14702039,12477932,12421765,11292345,10748127,10744724,10231032,16189514 23360 NM_015308,AC021443,CH471064,AB023231,AK022987,AK054636,AK095093,AK123898,AL137480,BC006557,BC037404,BX537864,CR620614,DB458472 NP_056123,EAW67884,EAW67885,EAW67886,EAW67887,EAW67888,BAA76858,BAB14348,CAB70761,AAH37404,CAD97867,Q7Z666,Q8N3X1 Hs.6834 DKFZp779I1064|FBP30|FLJ41904|KIAA1014 protein-coding 1352740 FND frontonasal dysplasia 2336 GDB:265284 1321663 FNDC1 fibronectin type III domain containing 1 16098131,14657397,12477932,11347906,9704633 84624 NM_032532,AL355492,AL356417,AL590551,CH471051,AB058769,AJ586132,AK127635,AL832410,BC146783,DQ009660 NP_115921,CAI20153,CAI20154,CAH70504,CAH71650,CAH71651,EAW47634,BAB47495,CAE51894,CAI46178,AAI46784,AAY26234,Q4ZHG4 Hs.520525 AGS8|FNDC2|KIAA1866|MEL4B3|RP11-243O10.2|bA243O10.1|dJ322A24.1 protein-coding 1352769 FNDC2 fibronectin type III domain containing 2 387083 1354235 FNDC3A fibronectin type III domain containing 3A 18218838,17081983,15489334,15057823,14702039,12477932,12168954,10231032,8889548 22862 BM973827,BX640739,BX648141,BX648706,CH471075,AB023187,AJ749706,AJ749707,AK001140,AK056071,AK172814,BC036010,BC051029,BC060816,BC070072,BC107793,BC132812,NM_001079673,NM_014923,AL137000,AL161421,AL359184 CAE45852,CAI45989,Q5HYC9,Q5VXF4,Q6EVH4,Q6ZME4,Q96N25,Q9Y2H6,AAI32813,EAX08803,CAH73933,EAX08804,EAX08805,EAX08806,EAX08807,EAX08808,EAX08809,EAX08810,BAA76814,CAG44602,CAG44603,BAB71087,BAD18784,AAH60816,AAH70072,NP_001073141,NP_055738,CAI39726,CAI39727,CAH70653 Hs.508010 FLJ31509|FNDC3|HUGO|KIAA0970|RP11-203I16.5|bA203I16.1|bA203I16.5 protein-coding 1343110 FNDC3B fibronectin type III domain containing 3B 737633 16303743,15527760,14702039,12975309,12477932,9373149,8125298 737633 64778 NM_022763,AC069259,AC069523,AC092964,AC108668,CH471052,AB098597,AF543840,AK027052,AK075220,AK092465,AK127826,AK223599,AL157482,AY358146,AY358367,BC012204,BC026005,BC033635,BC039297,BX648340,BX648415 NP_073600,EAW78470,EAW78471,EAW78472,EAW78473,EAW78474,EAW78475,EAW78476,EAW78477,BAC53727,AAN65261,BAB15639,BAC11480,BAD97319,CAB75672,AAQ88513,AAQ88733,AAH12204,AAH33635,AAH39297,Q53EP0 Hs.159430 DKFZp686D14170|DKFZp762K137|FAD104|FLJ23399|MGC10002|PRO4979|YVTM2421 protein-coding 1345842 FNDC4 fibronectin type III domain containing 4 15815621,15489334,14702039,12975309,12477932,12384288 64838 NM_022823,AC074117,CH471053,AK026015,AY358136,BC024175,BC032725,CR594178,CR597122,CR599669,CR605204,CR606989,CR618216,CR620289,CR625278 NP_073734,AAY14849,EAX00569,EAX00570,BAB15321,AAQ88503,AAH32725,Q9H6D8,ABM84948,ABW03632 Hs.27836 FLJ22362|FRCP1 protein-coding 1348160 FNDC5 fibronectin type III domain containing 5 14702039,12477932,12384288,11591653 252995 NM_153756,AC114493,CH471059,AK092102,BC007548,BC033123,BC062297,BX537781 NP_715637,EAX07499,EAX07500,EAX07501,EAX07502,BAC03806,AAH62297,CAD97840,Q8NAU1 Hs.524234 FRCP2 protein-coding 1604516 FNDC7 fibronectin type III domain containing 7 14702039,12477932 163479 NM_173532,AL591719,CH471122,AK093157,BC057762,BC130421 NP_775803,CAH72065,EAW56329,BAC04077,AAH57762,AAI30422,Q5VTL7 Hs.258253 FLJ35838|MGC163293|RP11-293A10.2 protein-coding 1603304 FNDC8 fibronectin type III domain containing 8 12477932,9373149 54752 NM_017559,AC022916,CH471147,AK225743,AL133054,BC024002,BI829497 NP_060029,EAW80168,CAB61380,AAH24002,Q8TC99 Hs.120369 DKFZp434H2215 protein-coding 1606476 FNIP1 folliculin interacting protein 1 17028174,12477932,11853319 96459 NM_001008738,NM_133372,AC005593,AC008695,CH471062,AB075841,AK126675,AK292473,AL832008,AL834127,BC001956,CR749426,CR936723,DQ145719 NP_001008738,NP_588613,EAW62364,BAB85547,BAF85162,CAD91145,AAH01956,CAH18264,AAZ65854,Q8TF40,AAI56496 Hs.591273 DKFZp686E18167|DKFZp781P0215|KIAA1961|MGC667 protein-coding 2292121 FNIP2 folliculin interacting protein 2 18403135,14702039,12477932,10819331 57600 NM_020840,AC093700,AC107219,AC109823,CH471056,AB040883,AK022968,AK057981,AL713802,BC007861,BC016638,BC030251,BC047069,BU753084,DB482145 NP_065891,EAX04852,BAA95974,BAB14338,AAH07861,AAH16638,Q9P278,AAI66693 Hs.652441,Hs.709500 KIAA1450 protein-coding 1348472 FNL1 fibronectin-like 1 3943369 2337 GDB:119136 1352514 FNRBL fibronectin receptor, beta polypeptide-like 1979054 2338 GDB:119916 730816 FNTA farnesyltransferase, CAAX box, alpha Prenyltransferases attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of protein's with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 15170324,17353931,8276393,8494894,8106351,8599089,11313965,17192483,15489334,15451670,14702039,12825937,12477932,12374986,12036349,11687658,11598000,10852915,10747914,10676968,8910345,8889548,8830800,8530343,8419339,8175923,7713879,2217184,1400319,16189514 2339 AAB26814 NM_002027,NM_001018676,NM_001018677,AC110275,AC113191,CH471080,AB209689,AK091717,AK123002,AK292121,AL698961,BC017029,BC037295,BC084566,BI913631,BM686906,BT009854,BX648381,CR590542,CR593901,CR596177,CR597451,CR598730,CR602767,CR604891,CR609319,CR612397,CR613348,CR614887,CR616712,CR619362,CR619812,CR621802,CR624553,L00634,L10413 NP_002018,NP_001018196,NP_001018197,EAW63188,EAW63189,EAW63190,EAW63191,EAW63192,BAD92926,BAF84810,AAH17029,AAH37295,AAH84566,AAP88856,AAA35853,AAA86285,AAB26814,P49354,Q53XJ9,Q59EX2 Hs.370312 GDB:138173 FPTA|MGC99680|PGGT1A protein-coding 1350008 FNTAL1 farnesyltransferase, CAAX box, alpha-like 1 12956414,8276393 283226 NG_005139,AP003097 GDB:229988 pseudo 1348177 FNTAL2 farnesyltransferase, CAAX box, alpha-like 2 12956414,8276393 2341 NG_005138,AL138680 GDB:230055 pseudo 736901 FNTB farnesyltransferase, CAAX box, beta 1580863 15170324,17353931,8276393,8494894,16344560,15592455,15489334,14702039,12825937,12477932,12374986,12036349,11751396,11687658,11598000,10852915,10747914,10676968,9657673,9373149,8910345,8830800,8599089,8175923,8125298,2217184,16189514 2342 AAB26815 NM_002028,AL139022,CH471061,AK093298,AK225917,AU122768,BC013574,BC020232,BM990350,BX248269,CR609252,CR618315,CR622524,L00635,L10414 NP_002019,EAW80897,AAH20232,CAD62597,AAA35854,AAA86286,AAB26815,P49356,Q86TX8,ABM83054,ABM86247 Hs.632345 GDB:138174 FPTB|MGC31935 farnesyltransferase beta subunit protein-coding 1347225 FNTBL1 farnesyltransferase, CAAX box, beta-like 1 8276393 2343 GDB:230056 734060 FOLH1 folate hydrolase (prostate-specific membrane antigen) 1 This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants. 737756,1580863,728645 12753319,12712410,12707400,12514270,12477932,12474535,12210356,12204797,12042430,11102961,11092759,10085079,9882712,9838072,9816319,9809977,9694964,9691167,9622670,9187245,8595888,8570628,7882349,7665226,9375657,8417812,18427977,18249021,18234225,18076021,17935484,17714508,17684227,17208363,17150306,17032155,16713605,16522921,16496414,16467855,16221666,15840561,15837926,15713827,15705868,15389976,15321811,15152093,15141017,15122597,14716746,14632302,14571414,14528023,13678295,12949938,12949815,12855225,12850144,12754519,7511053 737756,728645 2346 NM_004476,AC110742,AC118273,AF007544,AF107214,AY324625,CH471064,AF176574,AF254357,AF254358,AJ007318,AY101595,BC025672,BC108719,NM_001014986,CR619031,DQ088979,EF488811,EF488812,M99487,S76978 NP_001014986,NP_004467,AAC83972,AAF31167,AAP86290,EAW67861,AAD51121,AAF71357,AAF71358,AAM34479,AAH25672,AAI08720,AAZ66619,ABO93402,ABO93403,AAA60209,AAB33750,Q04609,Q2VPJ0,Q541A4,Q7Z5D2,Q8TAY3,ABM82093,ABM85275 Hs.654487 GDB:5276128 FGCP|FOLH|GCP2|GCPII|NAALAD1|NAALAdase|PSM|PSMA|mGCP folate hydrolase protein-coding 1354156 FOLH2 folate hydrolase 2 9691167,8417812 2344 NG_003258,AP003122,U93598,U93599 GDB:9834886 FOLHP|PSM pseudo 1346305 FOLR1 folate receptor 1 (adult) The protein encoded by this gene is a member of the folate receptor (FOLR) family. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene is composed of 7 exons; exons 1 through 4 encode the 5' UTR and exons 4 through 7 encode the open reading frame. Due to the presence of 2 promoters, multiple transcription start sites, and alternative splicing of exons, several transcript variants are derived from this gene. These variants differ in the lengths of 5' and 3' UTR, but they encode an identical amino acid sequence. 1580863 9545095,10633085,2768245,18181001,17912458,17554378,17487842,17473184,17035141,16602701,16475900,16453285,16128986,15754024,15489334,15340044,14972645,14517339,12839949,12612090,12516786,12477932,11925593,10025672,9373149,9063895,8125298,8061055,7632694,7578066,3476960,3194438,2538429,2527252,2166548,1840502,1717147,1581364,1330883 2348 NM_016725,NM_016724,NM_000802,NM_016730,NM_016729,NM_016731,AP000812,CH471076,U20391,AF000381,AK223527,BC002947,BT007158,CR542019,CR607460,CR613077,CR623060,J05013,M25317,M28099,M35069,S73474,S73490,U78793,U78794,X62753 CAA44610,O14597,P15328,Q53EW2,Q6FGT8,Q6LC90,Q6LDL1,Q96QD1,Q9NP04,ABM83670,ABM86943,NP_057937,NP_057936,NP_000793,NP_057942,NP_057941,NP_057943,EAW74848,EAW74849,EAW74850,EAW74851,EAW74852,AAB05827,AAB81938,BAD97247,AAH02947,AAP35822,CAG46816,AAA35823,AAA74896,AAA35822,AAA35824,AAB31702,AAB31700,AAB39751,AAB39752 Hs.73769 GDB:128061 FBP|FOLR|FR-alpha|MOv18 protein-coding 1349897 FOLR1P folate receptor 1 (adult) pseudogene 2538429,1581364,1330883 390221 NG_005088,AP000812,M86438 GDB:132233 KB-1 pseudo 1318329 FOLR2 folate receptor 2 (fetal) The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. 1580863,1540379 2605182,17035141,16368877,16341674,15028279,12809644,12543860,12477932,10446858,9398177,9373149,8889548,8445646,8125298,8110752,8106441,7698003,7578066,2561247,2166548,1330883 1540379 2350 NM_001113534,NM_001113535,NM_001113536,AP000593,CH471076,U02714,X69516,AK222539,AK222643,BC027894,BC058036,BC115366,BM691283,BM849995,BY797003,CD014063,CD692073,NM_000803 NP_000794,NP_001107006,NP_001107007,NP_001107008,EAW74853,AAA17370,CAA49267,BAD96259,BAD96363,AAH27894,AAH58036,AAI15367,A0AUM2,O14596,P14207,Q05CA5,Q53HP1,Q6GTE8 Hs.433159 GDB:132232 BETA-HFR|FBP/PL-1|FR-BETA|FR-P3 protein-coding 1345317 FOLR2L folate receptor 2 (fetal) like 2351 GDB:132234 1346148 FOLR3 folate receptor 3 (gamma) This gene encodes a member of the folate receptor (FOLR) family, members of which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This gene includes two polymorphic variants; the shorter one has two base deletion in the CDS, resulting in a truncated polypeptide, compared to the longer one. Both protein products are constitutively secreted in hematopoietic tissues and are potential serum marker for certain hematopoietic malignancies. The longer protein has a 71% and 79% sequence homology with the FOLR1 and FOLR2 proteins, respectively. 1580863 8110752,14759258,12477932,9547271,7727426 2352 NM_000804,AF100161,AP000812,CH471076,BC030285,BC126398,U08470,U08471,Z32564,Z32633 NP_000795,AAC98303,EAW74843,EAW74844,EAW74845,AAH30285,AAA18381,AAA18382,CAA83553,CAA83566,P41439,Q05C14,AAI41506,AAI48786 Hs.352 GDB:306562 FR-G|FR-gamma|gamma-hFR protein-coding 735729 FOS v-fos FBJ murine osteosarcoma viral oncogene homolog The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. In some cases, expression of the FOS gene has also been associated with apoptotic cell death. 1580863,704404 11260070,11134330,11053448,10799874,10777532,10764760,10523647,10497212,10488148,9918847,9792677,9732876,9685505,9681824,9671405,9642216,9510247,9468519,9346889,9334186,9207128,9129988,9121455,9057648,8971979,8904195,8763994,8737385,8710853,8628277,8570175,8557686,8475068,16552729,16236267,16219292,16123044,16055710,16049073,16038047,15926923,15921770,15767669,15708845,15654976,15588513,15548518,15530430,15507668,15489334,15262961,15188457,14966901,14741347,14727154,14702039,14629301,14522952,14517309,14511403,12972619,12949493,12788789,12705898,12692226,12687275,12600988,12592382,12547826,12508121,12477932,12446585,12445807,12193410,12183893,12147741,12127989,12082260,12052862,11983170,11909859,11891317,11846562,11641401,11397816,11397794,11278640,10918580,9888853,9443941,18368600,18309110,18283312,18252863,18158562,18032824,17926144,17915561,17681951,17639289,17636030,17606925,17549045,17495958,17235455,17209045,17203973,17182779,17160021,17018293,16828227,16637060,8397339,8248197,8108109,8065335,7994752,7962462,7816602,7816143,7713192,7685215,7665092,7540136,6574479,3817017,3555978,3027573,2516827,2511004,2414012,1903538,1828107,1658710,1631061,1589769,1545828,1406655,10581001,10027715,16001969,7642615,8621941,7957556,15258149,16690925,16243842,12419805,10388555,8480425,8151786,11782371,16189514,10847592,16023595,15950906,9130707,8816798,8816797,15610731,15175153 2353 NM_005252,AB022275,AB022276,AF111167,AY212879,CH471061,K00650,V01512,AK097379,AK290907,AK291326,BC004490,BX647104,CR541785,CR542267,CR620080,CR612516 NP_005243,BAA87920,BAA87921,AAC98315,AAO21129,EAW81227,EAW81228,EAW81229,AAA52471,CAA24756,BAF83596,BAF84015,AAH04490,CAG46584,CAG47063,P01100,Q6FG41,Q76MY9,Q76MZ0,ABM84370,ABM87749 Hs.25647 GDB:119917 AP-1|C-FOS protein-coding 1317837 FOSB FBJ murine osteosarcoma viral oncogene homolog B The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 1900040,8706134,18207134,17495958,16344560,15926923,15489334,14741347,12618758,12602926,12477932,12371906,10942775,10220381,8985116,1903195,1702972,1301997 2354 NM_006732,NM_001114171,AC138128,AY898963,CH471126,AK292720,BC036724,BC040197,BC063042,BC127825,CR542101,DA589470,DB275824,EU178109,EU178110,EU178111,EU178112,EU178113,EU178114,EU178115,EU178116,L49169,BX538117 NP_006723,NP_001107643,AAW65374,EAW57351,EAW57352,BAF85409,AAH36724,AAH40197,AAI27826,CAG46898,ABW34730,ABW34731,ABW34732,ABW34733,ABW34734,ABW34735,ABW34736,ABW34737,AAB53946,P53539,Q49AD7,Q6FGK6 Hs.590958 GDB:132586 AP-1|DKFZp686C0818|G0S3|GOS3|GOSB|MGC42291 protein-coding 732196 FOSL1 FOS-like antigen 1 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. 737712,1580863 10918580,8230424,18172271,18098284,18096084,17882273,17872495,17616677,17572495,17371847,17254320,17192200,16490785,16189514,15831677,15615716,15608675,15489334,13679379,12692267,12477932,12424143,12371906,12209953,11912197,11708771,9858769,9458721,9373149,9267807,9160889,9016559,8938448,8276409,8125298,2107490,15806162 737712 8061 NM_005438,AJ297411,AP006287,CH471076,AK222902,BC016648,BQ937004,CR542257,CR542278,CR591085,CR608946,X16707 NP_005429,CAC50237,EAW74469,BAD96622,AAH16648,CAG47053,CAG47074,CAA34679,P15407,Q53GM9,Q6FG51,ABM83629,ABM84258,ABM85159,ABM87647,ABW03920,ABM81980 Hs.283565 GDB:230010 FRA|FRA1|fra-1 1643405 BMD9_H protein-coding 733116 FOSL2 FOS-like antigen 2 The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. 1580863 8954781,17393299,17081983,15489334,15302935,14702039,14499865,12477932,12052862,11708771,11570575,10816578,10713367,10419887,2107490,16189514 2355 NM_005253,AC104695,CH471053,AK026959,AK055579,BC008899,BC022791,BC085197,BM023443,BQ574214,BX647822,CR542262,X16706 NP_005244,AAY14908,AAY14909,EAX00537,EAX00538,EAX00539,EAX00540,BAB15603,AAH08899,AAH22791,CAG47058,CAA34678,P15408,Q6FG46,Q9H5M2,ABM84354,ABM87742 Hs.220971,Hs.596972 GDB:273622 FLJ23306|FRA2 protein-coding 1605727 FOXA1 forkhead box A1 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. 8652662,18358809,18178153,18039470,17671124,17616709,17373880,16381901,16331276,16239259,16087863,16009131,15737987,15489336,15489334,12750453,12477932,12441652,12234996,11864602,11355750,11076863,10899756,9119385,8034310,1672118,1612587 3169 NM_004496,AF176112,AF303743,AL121790,CH471078,BC033890,BU860564,U39840 CAL38117,CAL38188,CAL38247,NP_004487,AAD51979,AAG40847,EAW65844,AAH33890,AAB06493,P55317,Q0JTB6,CAL37741 Hs.163484 GDB:5975033 HNF3A|MGC33105|TCF3A protein-coding 1605726 FOXA2 forkhead box A2 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Two transcript variants encoding the same protein have been identified for this gene. 1627574 10868948,17715393,17471492,17283222,17101796,16892178,16675598,16001449,15737987,15489334,15205324,15123725,14739090,14500912,12911579,12642491,12509444,12477932,12163409,12124776,11875061,11780052,11069927,10899756,10748198,10672453,10623575,9119385 1627574 3170 BC006545,BC011780,BC019288,BM273279,BQ643619,NM_153675,NM_021784,AF147787,AF176110,AL121722,CH471133,CS104988,CS104990,EU402966,AA469087,AB028021,AI302734 AAH06545,AAH11780,AAH19288,Q9Y261,ABM83809,ABM87131,NP_710141,NP_068556,AAD41081,AAD51978,CAB89773,EAX10174,EAX10175,CAJ01277,CAJ01278,ACA06111,BAA78106 Hs.155651 GDB:5975034 HNF3B|MGC19807|TCF3B 1643383,1643385 BW312_H,BW311_H protein-coding 1605725 FOXA3 forkhead box A3 This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. 7739897,15839736,15737987,15489334,12477932,11748221,10920385,10899756,9632808,9373149,9119385,8499623,8332212,8125298 3171 NM_004497,AC008623,EU275778,AK223473,BC016024,BT006720,L12141,AF176113,AF176114,CH471126 NP_004488,ABX44664,BAD97193,AAH16024,AAP35366,AAA58477,P55318,AAD51980,EAW57394,EAW57395 Hs.36137 GDB:5975035 FKHH3|HNF3G|MGC10179|TCF3G protein-coding 1313112 FOXB1 forkhead box B1 1580863 16344560,12477932 27023 NM_012182,AC009654,AF055080,CH471082,AF071554,AK290944,BC113710,DA685771,U87393 NP_036314,AAC09344,EAW77581,AAC62493,BAF83633,AAI13711,AAB47564,Q14CL2,Q99853 Hs.160375 GDB:10795430 FKH5|HFKH-5 protein-coding 1605769 FOXB2 forkhead box B2 15164053 442425 NM_001013735,AL353637 NP_001013757,CAH70683,Q5VYV0 Hs.553843 bA159H20.4 protein-coding 1353830 FOXC1 forkhead box C1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. 1582564,1580863 17993506,17653043,17558846,17486624,17197537,17157569,17000708,16952980,16936096,16638984,16492674,15477465,15299087,14702039,14578375,14574404,14506133,12592227,12454026,12234674,11821690,11782474,11748221,11740218,11320352,11170889,11007653,10713890,10474162,9792859,9620769,9382099,9326342,8940278,8912525,8825632,1170889,7957066,15277473,8499623,15684392,12408963,12614756,16449236 1582564 2296 NM_001453,AF048693,AF078096,AL034344,AY228704,CH471087,AF343007,AK021858,BC134421,L12143,U13221 NP_001444,AAC18081,AAC72915,CAB81658,AAP15181,EAW55074,AAL73344,AAI34422,AAK13575,AAA92038,Q12948,Q8WXT4 Hs.348883,Hs.599993 GDB:450220 ARA|FKHL7|FREAC3|IGDA|IHG1|IRID1 protein-coding 1347315 FOXC2 forkhead box C2 (MFH-1, mesenchyme forkhead 1) This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. 1582564,1601218,1601216,1601219,1601217,1601220,1580863 16456100,16081467,9169153,12114478,8674414,17537911,17372167,17342473,17081983,16952980,16786163,15926113,15919786,15601967,15597109,15523639,15489334,15198934,14530861,12716768,12540636,12485195,12477932,12453913,12383817,11694548,11551504,11499682,11371511,11078474,11076863,10669593,10417285 1582564,1601218,1601216,1601219,1601217,1601220 2303 NM_005251,AC009108,CH471114,Y08223,BC113437,BC113439 NP_005242,EAW95415,EAW95416,CAA69400,AAI13438,AAI13440,Q99958,AAI11590 Hs.436448 GDB:5592613 FKHL14|LD|MFH-1|MFH1 protein-coding 1343882 FOXD1 forkhead box D1 This intronless gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in tumor formation. 1580863 7957066,8702877,15716278,8825632 2297 NM_004472,AC099522,CH471084,U59831,U13222,U59832 NP_004463,EAW95721,AAC50660,AAA92039,AAC50661,Q16676 Hs.519385 GDB:450222 FKHL8|FREAC4 protein-coding 1312200 FOXD2 forkhead box D2 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. 1580863 9403061,12621056,8889548 2306 CH471059,AF042832,AL559120,BM665076,NM_004474,AL607122 CAI14974,EAX06866,AAC15421,O60548,NP_004465 Hs.166188 GDB:6540613 FKHL17|FREAC-9|FREAC9 protein-coding 1347778 FOXD3 forkhead box D3 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. 1580863 11891324,16710414,16098053,11179011,8499623 27022 NM_012183,AF197560,AL049636,CH471059,AF086235,L12142 NP_036315,AAF05844,CAC19431,EAX06575,AAK13574,Q9UJU5 Hs.546573 GDB:10795432 AIS1|Genesis|HFH2 protein-coding 1346778 FOXD4 forkhead box D4 1580863 7957066,9325056,17273782,15489334,15164053,12477932,12421752,12234674,8825632 2298 AF343004,NM_207305,AL449043,AF452724,AY344640,BC089432,BC103886,BC136570,U13223 NP_997188,AAL73341,CAH70545,AAN64909,AAQ76878,AAH89432,AAI03887,AAI36571,AAA92040,Q12950,Q3MI95,Q6VB86 Hs.584759 GDB:450225 FKHL9|FOXD4A|FREAC5|MGC105106 protein-coding 1351590 FOXD4L1 forkhead box D4-like 1 This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. 1580863 15815621,15233989,14702039,12421752,7957066 200350 NM_012184,AL078621,AF452723,AK122950,AK125398,AY344639 NP_036316,CAB81641,AAN64908,AAQ76877,Q9NU39,AAI48649,AAI53202 Hs.698326 FOXD5|bA395L14.1 protein-coding 1625815 FOXD4L2 forkhead box D4-like 2 12421752,12234674,9847074 100036519 NM_001099279,AC129778 NP_001092749 Hs.712520 protein-coding 1349207 FOXD4L3 forkhead box D4-like 3 12421752 387054 NM_199358,AL353608,AL512605,AY344642 NP_955390,CAI41168,CAH70699,AAQ76880,Q5JTX9,Q5VV16,Q6VB84 Hs.449471 FOXD6 protein-coding 1606108 FOXD4L3 forkhead box D4-like 3 12477932,12421752 286380 NM_199135,AL353608,AY344641 NP_954586,CAI41168,AAQ76879,Q6VB85 Hs.449471 FOXD4L2|FOXD6|MGC119257 protein-coding 1602044 FOXD4L4 forkhead box D4-like 4 12421752,12234674 349334 NM_199244,AF343005,AF343008,BX284632 NP_954714,AAL73342,AAL73345,CAI14283,Q8WTR0,Q8WXT5 Hs.534644 FOXD4b|bA460E7.2 protein-coding 2293114 FOXD4L5 forkhead box D4-like 5 15164053,12234674 653427 XR_016691,NM_001126334,AL512605,AF343006 NP_001119806,CAH70699,AAL73343,Q5VV16,Q8WTR0 Hs.652377 bA15J10.2 protein-coding 1604667 FOXD4L6 forkhead box D4-like 6 12477932 653404 NM_001085476,BX255923,BC103887 NP_001078945,CAI94919,AAI03888,Q3SYB3,ABZ92214 Hs.652377 MGC119257 protein-coding 735499 FOXE1 forkhead box E1 (thyroid transcription factor 2) This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. Mutations in this gene are associated with congenital hypothyroidism and cleft palate with thyroid dysgenesis. The map localization of this gene suggests it may also be a candidate gene for squamous cell epithelioma and hereditary sensory neuropathy type I. 704404,1580863 9169137,9697705,12165566,17717707,17318017,16882747,16584930,16481406,16327884,15367491,15320969,15140221,14654228,14611701,11762722,11580993,10748198,10403172,9214635,9052737 2304 NM_004473,AL499604,CH471105,Y13386,U89995,X94553 NP_004464,CAI12803,EAW58856,CAA73816,AAC51294,CAA64246,O00358,Q5T109,AAI52745 Hs.159234 GDB:5592614 FKHL15|FOXE2|HFKH4|HFKL5|TITF2|TTF-2|TTF2 protein-coding 1316815 FOXE3 forkhead box E3 1598956,1598957,1580863 8825632,10652278,16826526,16710414,11159941 1598956,1598957 2301 NM_012186,AL607122,U42990,AF275722 NP_036318,CAI14973,AAB48856,AAF82793,Q13461 Hs.112968 GDB:581099 ASMD|FKHL12|FREAC8 protein-coding 1348211 FOXF1 forkhead box F1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. 1580863 9722567,7957066,8626802,9769171,16772323,16448649,16344560,15489334,12477932,8825632,7959731 2294 NM_001451,AC009108,AF085343,CH471114,BC089442,CA438612,DB011539,U13219 NP_001442,AAC61576,EAW95424,AAH89442,AAC50399,Q12946 Hs.155591 GDB:450216 FKHL5|FREAC1|MGC105125 protein-coding 1352114 FOXF2 forkhead box F2 FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. 1580863 7957066,8626802,9722567,9799607,7959731 2295 CH471087,U13220,NM_001452,AF084939,AL034346 EAW55072,AAC32226,Q12947,Q5TGJ1,NP_001443,AAD19875,CAI22285 Hs.484423 GDB:450218 FKHL6|FREAC2 protein-coding 1346258 FOXG1 forkhead box G1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and the telencephalon. 1580863 7599184,17260156,12477932,7959731,10938097 2291 P55316 BC040960,X78202,X74143 CAA55038,CAA52240,P55316 Hs.649934,Hs.653289 GDB:375747 BF1|BF2|FKH2|FKHL1|FKHL2|FKHL3|FKHL4|FOXG1A|FOXG1B|FOXG1C|HBF-2|HBF-3|HBF-G2|HBF2|HFK1|HFK2|HFK3|KHL2|QIN protein-coding 737514 FOXG1B forkhead box G1B This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the development of the brain and telencephalon. 1580863,704404 7959731,16133170,15084259,12657635,12477932,11387330,11238932,10938097,10498272,10373304,8170957,8099441,7957066,7599184,7585630 2290 P55315,Q86XT7 NM_005249,AL049777,CH471078,BC035020,BC050072,CR602240,CR617342,X74142 NP_005240,EAW65978,AAH50072,CAA52239,P55315,Q86XT7 Hs.649934,Hs.688232 GDB:269886 BF1|FKH2|FKHL1|FKHL4|HBF-1|HFK1|QIN forkhead box o1 protein-coding 1353322 FOXG1C forkhead box G1C 1580863 12508121,7959731 2292 Q14488 X74144 CAA52241,Q14488 Hs.649934 GDB:375755 FHKL3|FKHL3|HBF-3|HFK3 protein-coding 1322645 FOXH1 forkhead box H1 FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. 1580863 9702198,16120611,15982639,15750622,15737749,15363409,12477932,12471260,10938097,11371641,11076863,9858566,9389648,9288972,15084259 8928 NM_003923,AC084125,CH471162,AF076292,BC051376,BC065377 NP_003914,EAW82083,EAW82084,AAC34303,AAH65377,O75593,Q6P0Y2,AAI11605 Hs.708365 GDB:9957897 FAST-1|FAST1 protein-coding 1316609 FOXI1 forkhead box I1 This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7957066,15489334,12695546,12477932,9153225,8825632,7683413 2299 NM_012188,NM_144769,AC008660,CH471062,U13224,AK292176,AY707089,BC029778,L13203 NP_036320,NP_658982,EAW61489,EAW61490,AAA92041,BAF84865,AAU12169,AAH29778,AAB50574,Q12951 Hs.87236 GDB:450228 FKH10|FKHL10|FREAC6|HFH3|MGC34197 protein-coding 1602262 FOXI2 forkhead box I2 16289364 399823 NM_207426,AL391005,AK128865 NP_997309,BAC87649,Q6ZQN5 Hs.449674 FLJ46831 protein-coding 732358 FOXJ1 forkhead box J1 FOXJ1 is a member of the forkhead gene family, which was originally identified in Drosophila. The forkhead family is composed of transcription factors with a conserved 100-amino acid DNA-binding motif.[supplied by OMIM] 704404,1580863 9073514,18160851,16518568,15489334,12477932,11060460,9530170,9096351 2302 NM_001454,AC018665,AJ272064,CH471099,X99350,BC046460,U69537,X99349 NP_001445,CAB76562,EAW89375,EAW89376,CAA67730,AAH46460,AAB09039,CAA67729,Q92949 Hs.651204 GDB:4627385 FKHL13|HFH-4|HFH4|MGC35202 protein-coding 1344904 FOXJ2 forkhead box J2 1580863 15489334,14702039,12787665,12477932,10966786,10777590,9110174,8889548,8619474 55810 NM_018416,AC006511,CH471116,AF038177,AF155132,AF155133,AK092529,AL161978,BC126396,BC136305,CB243304 NP_060886,EAW88642,EAW88643,AAF65927,AAK49016,CAB82315,AAI26397,AAI36306,Q9P0K8 Hs.120844 FHX protein-coding 1323400 FOXJ3 forkhead box J3 1580863 15489334,12477932,12421765,10470851 22887 AC096540,AC114492,CH471059,AB028964,AK027075,AK128307,AL157422,BC014182,BC063298,NM_014947,BC151828,BC152441 NP_055762,EAX07162,EAX07163,EAX07164,EAX07165,EAX07166,EAX07167,BAA82993,CAB75651,AAH14182,AAI51829,AAI52442,Q9UPW0 Hs.26023 MGC165036|MGC176686 protein-coding 1604502 FOXK1 forkhead box K1 17081983,16624804,15489334,15289879,15202027,14702039,12853948,12477932,17353931 221937 NM_001037165,AC072054,AC092428,AC092610,CH471144,AK027883,AK122663,AW205747,BC038434,CB959941 NP_001032242,EAW87291,P85037 Hs.708095 FLJ14977|FOXK1L protein-coding 1313423 FOXK2 forkhead box K2 The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. 1339390,12402362,16964243,16625196,14702039,12477932,11230166,9065434,3260003,1909027,16624804 3607 NM_004514,AC124283,AC124287,CH471099,AA889932,AK096800,AK098140,AL832570,BC036949,BC041569,CR620815,U58196,U58197,U58198 NP_004505,EAW89800,EAW89801,EAW89802,AAB02820,AAB02821,AAB02822,Q01167,Q9H0E4 Hs.696000 ILF|ILF-1|ILF1 protein-coding 1353210 FOXL1 forkhead box L1 1580863 7957066,11078474,15489334,15188402,12477932,8889548 2300 NM_005250,CH471114,U13225,BC100027,BC117226,BM675371,AC009108,AF315075 AAG40312,EAW95414,AAA92042,AAI00028,AAI17227,Q12952,Q498Y4,NP_005241 Hs.533830 GDB:450231 FKH6|FKHL11|FREAC7 protein-coding 1320713 FOXL2 forkhead box L2 1580863,1598958 11175783,12471206,12630957,12149404,12161610,18028747,17968144,17277738,17089161,16814186,16394030,16283882,16219626,16131596,15962237,15591279,15489334,15300845,15257268,15181179,15081106,12938087,12567411,12560069,12529855,12477932,12400065,11960581,11910558,11776388,11474656,11468277,10702024,10036183,1941972,16153597 1598958 668 NM_023067,AC092947,AY331134,DQ016593,DQ016608,DQ016609,AF301906,AI089172,BC019896,BC062549,BF512713,DQ089670,DQ089671,DQ089672 NP_075555,AAQ01519,AAY21821,AAY21822,AAY21823,AAK01352,AAH19896,AAH62549,AAY89234,AAY89235,AAY89236,P58012,Q05CX9,Q4JHB5,Q4JHB6,Q4JHB7,Q53ZD3 Hs.289292 GDB:129025 BPES|BPES1|PFRK|PINTO|POF3 protein-coding 1604404 FOXM1 forkhead box M1 15654331,10523841,18297053,18254960,18020943,17804744,17101782,17014965,16955137,16913845,16809346,16701100,16585184,16504183,16489016,16314512,15958562,15489334,15302935,15024056,14686788,12477932,12183437,11861839,9441747,9242644,9032290,8290587 2305 NM_202003,NM_021953,NM_202002,AC005841,AC005911,CH471116,CS174342,DQ022289,AK291206,AY542306,BC006192,BC006529,BC012863,BC035437,BQ229497,BT006986,CR626615,L16783,U74612,U74613,U83113 NP_973732,NP_068772,NP_973731,EAW88880,EAW88881,EAW88882,EAW88883,CAJ34550,AAY26401,BAF83895,AAT08175,AAH06192,AAH06529,AAH12863,AAP35632,AAC37541,AAC51128,AAC51129,AAC63595,Q08050,Q53Y49 Hs.239 GDB:6383034 FKHL16|FOXM1B|HFH-11|HFH11|HNF-3|INS-1|MPHOSPH2|MPP-2|MPP2|PIG29|TGT3|TRIDENT protein-coding 1349825 FOXN1 forkhead box N1 Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. 1599846,1580863 10767081,7969402,17803914,17592270,16232301,15316080,15180707,10483588,10206641,9321431 1599846 8456 NM_003593,NG_007260,AC005726,CH471159,Y11740,Y11741,Y11742,Y11743,Y11744,Y11745,Y11746,Y11739 NP_003584,EAW51092,CAA72417,CAA72416,O15353,AAI40424,AAI46540 Hs.663679 FKHL20|RONU|WHN protein-coding 1343664 FOXN2 forkhead box N2 This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. 1580863 1639393,14702039,12477932 3344 NM_002158,AC091485,AA827684,AK123200,BC063305,BC069731,BQ025120,CR605501,CR749839,U57029 NP_002149,AAY14813,AAH63305,AAH69731,AAB03504,P32314,Q6IS90,Q6P4Q2,ABZ92013 Hs.468478 GDB:131397 HTLF protein-coding 1313904 FOXN3 forkhead box N3 This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. 1580863 16951149,16102918,9154802,18074379,17983802,15489334,15342556,15231747,14702039,12508121,12477932,11483580,9373149,8889549,8617492,8125298 1112 NM_001085471,NM_005197,AC007263,AL137230,AL138478,AL157736,AL163032,AL356805,AL357093,CH471061,AA149521,AA938188,AF116643,AI084011,AI240081,AK055175,AK123929,AK225967,BC007506,BC010227,BC010460,BP213901,CB268882,CB989352,U68723 NP_001078940,NP_005188,AAF18259,EAW81403,EAW81404,EAW81405,EAW81406,AAF71066,AAH07506,AAH10460,AAB58252,O00409,Q9P1I8 Hs.434286,Hs.621371 GDB:9120567 C14orf116|CHES1|PRO1635 protein-coding 1314977 FOXN4 forkhead box N4 Members of the winged-helix/forkhead family of transcription factors, such as FOXN4, are characterized by a 110-amino acid DNA-binding domain that can fold into a variant of the helix-turn-helix motif consisting of 3 alpha helices flanked by 2 large loops or wings. These transcription factors are involved in a variety of biologic processes as key regulators in development and metabolism (Li et al., 2004 [PubMed 15363391]).[supplied by OMIM] 16541075,15492871,15464224,15363391,14702039,12477932 121643 NM_213596,AC012384,CH471054,AA421288,AF425596,AF425597,AK093286,AK131519,BC113073,BC146825 NP_998761,EAW97856,EAW97857,AAL23949,AAL23950,BAD18661,AAI13074,AAI46826,Q96NZ1 Hs.528316 FLJ35967 protein-coding 737155 FOXO1 forkhead box O1 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. 704404,1582564,1580863 11353774,12228231,7862145,10871843,11311120,18356527,18303411,18280254,18096667,18022385,17993506,17986608,17873969,17638879,17613043,17609436,17599040,17597184,17555999,17525748,17491598,17490646,17478621,17442120,17404186,17258205,17218607,17202144,17077083,17038621,16979636,16973122,16964289,16952980,16952014,16950602,16943287,16916907,16885156,16849544,16709600,16690806,16670089,16571842,16497530,16485043,16282329,16203862,16157701,16133873,16123151,16100571,16076959,15987820,15905404,15890677,15778376,15692560,15688409,15688035,15632117,15613482,15582274,15489334,15342912,15184910,15140004,15109499,15084259,15057823,15047604,14726521,14664696,12960271,12921955,12606503,12560069,12519792,16492665,12493691,12482965,12477932,12242297,12163409,12150827,12039929,11980723,11893744,11735247,11672436,11435445,11237865,11030146,10973497,10783894,10358075,10358014,9479491,8790412,8275086,7630639 1582564 2308 NM_002015,AL133318,AL355132,AL592167,CH471075,AF032885,BC021981,BC070065,BT007455,BX648278,U02310 NP_002006,EAX08627,AAC39591,AAH21981,AAH70065,AAP36123,AAA03629,Q12778 Hs.370666 GDB:266367 FKH1|FKHR|FOXO1A forkhead box o1a (rhabdomyosarcoma) protein-coding 1343239 FOXO1B forkhead box O1B pseudogene 9479491 2311 NG_001120,AC008620,AF032888 GDB:6261979 FKHRP1 pseudo 1319403 FOXO3 forkhead box O3 This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. 1580863 18344987,18311149,18204439,18195003,18193458,18178829,18063811,18055337,18037997,18032780,18032526,17959613,17940099,17900262,17726016,17711846,17558024,17522055,17496928,17452451,17389761,17234971,17190839,17077388,17044646,16979636,16888645,16809346,16751106,10102273,14734530,18360030,16709600,16687394,16571842,16373335,16133873,16100571,16061480,15798096,15688014,15674333,15662024,15616007,15551757,15509806,15489334,15324660,15322085,15207915,15084260,15084259,15047604,14981546,14976264,14962911,14702039,14574404,14563822,14551207,14527951,12960271,12881712,12477932,16690749,12351634,12107410,12027802,11896584,11884591,11435445,11154281,10783894,9852958,9479491,9345057,15708996,15265780,15905404,15604409 2309 NM_201559,NM_001455,AJ001590,AL096818,AL365509,AL391646,CH471051,AB072905,AF032886,AF041336,AI554317,AJ001589,AK024103,AK092357,AK122861,BC020227,BC021224,BC045800,CA389775,CD101760,CR623727,CR749261,BC068552 NP_963853,NP_001446,CAA04861,CAI16295,CAI16405,EAW48373,EAW48374,AAC39592,AAD02923,CAA04860,AAH20227,AAH21224,AAH68552,CAH18117,O43524,Q68DV3,Q9UPC2 Hs.220950 GDB:6261978 AF6q21|DKFZp781A0677|FKHRL1|FKHRL1P2|FOXO2|FOXO3A|MGC12739|MGC31925 protein-coding 1348072 FOXO3B forkhead box O3B pseudogene 9479491 2310 NG_001119,AC026271,AF032887 GDB:6261980 FKHRL1P1 pseudo 1353756 FOXO4 forkhead box O4 1580863 15126506,10783894,16054032,10217147,12761217,16272144,17244620,16571842,16114898,15905404,15824087,15688030,15688004,15538382,15489334,15342556,15084259,14690436,12964026,12960271,12477932,12192052,11884591,11779849,11777915,11689711,11435445,11352721,11313479,10973497,10921784,10880363,10518537,9341872,9010221,7529552 4303 BC106761,BP349083,CR595958,CR596165,CR620527,U10072,X93996,NM_005938,AL590764,CH471132,Y11284,Y11285,Y11286,AF384029,BC026735 AAI06762,AAA82171,CAA63819,P98177,NP_005929,EAX05321,EAX05322,CAA72156,AAL85197 Hs.584654 GDB:392309 AFX|AFX1|MGC120490|MLLT7 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, drosophila); translocated to, 7 protein-coding 2292467 FOXO6 forkhead box protein O6 12857750 343552 AI361654,AI341823 Hs.559677 protein-coding 1318576 FOXP1 forkhead box P1 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. 1582564,1580863 18332236,18077790,17477366,17344859,17199743,16952980,16673020,16636337,16258506,16200457,15709173,15703784,15492844,15286807,15161711,15056695,14702039,14701752,12692134,12477932,11757404,11751404,11042152,8265594 1582564 27086 NM_001012505,AC097632,AC097634,AC103586,AC104442,AC104645,AC138058,CH471055,CQ834152,AB052767,NM_032682,AF146696,AF151049,AF250920,AF275309,AK026898,AK027264,AK074321,AK074569,AK092383,AK122710,BC005055,BC054505,BC054815,BC068481,BC071893,BC080521,BC131720,BT006643,BX647682,CR457164 NP_116071,NP_001012523,EAW65489,EAW65490,EAW65491,EAW65492,EAW65493,EAW65494,EAW65495,EAW65496,EAW65497,EAW65498,EAW65499,EAW65500,CAH05291,BAC53800,AAG47632,AAF36135,AAL56661,AAK69408,BAB55005,BAB85050,BAC11065,BAC03875,AAH05055,AAH54815,AAH71893,AAH80521,AAI31721,AAP35289,CAG33445,Q548T7,Q6IAJ1,Q8IXF4,Q8N2P0,Q8NAN6,Q8TEA2,Q9BSG9,Q9H334,AAI52753 Hs.431498 GDB:10795895 12CC4|FLJ23741|HSPC215|MGC12942|MGC88572|MGC99551|QRF1|hFKH1B protein-coding 1351861 FOXP2 forkhead box P2 This gene encodes an evolutionarily conserved transcription factor expressed in fetal and adult brain. This transcription factor is a member of the forkhead/winged-helix (FOX) family of transcription factors, and contains a FOX DNA-binding domain and a large polyglutamine tract. Members of the FOX family of transcription factors are regulators of embryogenesis. The product of this gene is thought to be required for proper development of speech and language regions of the brain during embryogenesis. Although a point mutation in this gene has been associated with the KE pedigree segregating developmental verbal dyspraxia, no association between mutations in this gene and another speech disorder, autism, has been found. Multiple alternative transcripts encoding different isoforms have been identified. 1580863 12853948,12721956,12690205,12655497,12524352,12477932,12192408,12189486,12160352,12116195,12060812,11894222,11872603,11818129,11586359,11358962,10880297,9770548,9225980,2332125,16407075,11872605,17999362,17999357,17330859,17196932,17033973,16984964,16538183,15998549,15948071,15877281,15737702,15685218,15653268,15108192,15056695,14997560,14702039,14701752,14555953,12876151 93986 AF467257,AF467258,AF467259,AF493430,AK131266,AY144615,BC018016,BC126104,CR749236,DQ778626,NM_148898,NM_014491,NG_007491,AC003992,AC020606,AC073626,AF515031,AF515032,AF515033,AF515034,AF515035,AF515036,AF515037,AF515038,AF515039,AF515040,AF515041,AF515042,AF515043,AF515044,AF515045,AF515046,AF515047,AF515048,AF515049,AF515050,CH236947,CH471070,NM_148899,AF086040,AF337817,AF454830,AF467252,AF467253,AF467254,AF467255,AF467256 AAM60767,AAM60768,AAM60769,AAM13672,BAD18444,AAN60016,AAH18016,AAI26105,CAH18092,ABG77460,NP_683697,NP_683696,NP_055306,AAS07399,AAS07400,AAS07502,AAN03389,AAN03390,AAN03391,AAN03392,AAN03393,AAN03394,AAN03395,AAN03396,AAN03397,AAN03398,AAN03399,AAN03400,AAN03401,AAN03402,AAN03403,AAN03404,AAN03405,AAN03406,AAN03407,AAN03408,EAL24367,EAL24368,EAL24369,EAW83479,EAW83480,EAW83481,EAW83482,EAW83483,EAW83484,EAW83485,EAW83486,AAL10762,AAM60761,AAM60762,AAM60763,AAM60764,AAM60765,A0AUV6,O15409,Q0PRL4,Q68DX8,Q8N6B5,Q8N6B6,Q8NFT3,Q8WVH2,AAM60766 Hs.656280 GDB:11500143 CAGH44|DKFZp686H1726|SPCH1|TNRC10 protein-coding 1348507 FOXP3 forkhead box P3 The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. 1598959,1580863 16652169,16873067,16920951,11483607,11138001,15466453,16903909,15652505,18317533,18294387,18261176,18231910,18178814,18173798,18171284,18162042,18156149,18155891,18092263,18089323,18047933,18034969,18024321,18008005,17975141,17970785,17954183,17932340,17921346,17916446,17878390,17851585,17804750,17713426,17712998,17712989,17706604,17694575,17666212,17644307,17641056,17615291,17612516,17589345,17574040,17570480,17565321,17526924,17508019,17463169,17418529,17414718,17414320,17389235,17378693,17377532,17360565,17329235,17327427,17311282,17309822,17299718,17289884,17286616,17262084,17230494,17216339,17183612,17175222,17161353,17154262,17033038,17028180,16996248,16956389,16955142,16901927,16881731,16825494,16818738,16764698,16741580,16728694,16645171,16617117,16596204,16583400,16574699,16557241,16551363,16517728,16493082,16410445,16368541,16344560,16339919,16339542,16322292,16278306,16211090,16091206,16003241,15972448,15952173,15790681,15772651,15674359,15620457,15489334,15374887,15246158,15220219,15172973,15100250,14997560,14671208,14597769,12750858,12477932,12296863,11768393,11137993,11137992,11120765,11076863,10677306,8889548,16652285 1598959 50943 NG_007392,NM_001114377,AF235097,CH471224,AF277993,AJ005891,AK292052,BC113401,BC113403,DB342786,DQ010327,EF534714,NM_014009 NP_054728,NP_001107849,EAW50671,EAW50672,EAW50673,AAG53607,CAA06748,BAF84741,AAI13402,AAI13404,AAY27088,ABQ15210,Q9BZS1,AAI11854 Hs.247700 GDB:10796361 AIID|DIETER|IPEX|JM2|MGC141961|MGC141963|PIDX|XPID protein-coding 1322820 FOXP4 forkhead box P4 This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. 737633,1582564,1580863 17567994,16952980,15492844,15489334,14702039,14701752,14516685,12818433,12617805,12477932 737633,1582564 116113 NM_001012426,NM_138457,NM_001012427,AL139331,CH471081,AB080747,AK094912,AK098227,AL832437,AW450805,BC009628,BC013030,BC016874,BC034931,BC040962,BC052803,CR612831,DQ656018 NP_001012426,NP_612466,NP_001012427,CAH72540,CAH72541,CAH72542,EAX04047,EAX04048,EAX04049,EAX04050,BAC53809,CAH10652,AAH09628,AAH13030,AAH16874,AAH34931,AAH40962,AAH52803,Q5W098,Q69YN9,Q7Z7F8,Q8IVH2,Q8IW55,Q8N4A5,Q96AP5,Q96DC2,ABZ92377 Hs.131436 FLJ40908|FLJ44184|hFKHLA protein-coding 732997 FOXQ1 forkhead box Q1 1580863 15489334,12477932,12011061,11747606,11309849 94234 NM_033260,AF153341,AF225950,AL499606,CH471087,BC053850,BU566731 NP_150285,AAF75586,AAK00639,CAH70503,EAW55070,AAH53850,Q5VV73,Q9C009 Hs.591352 HFH1 hnf-3/forkhead homolog-1 protein-coding 1320240 FOXR1 forkhead box R1 This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. 15492844,15489334,15067358,12477932 283150 BC038969,BC125040,NM_181721,AP003392,AP004609,EF444979,AB094092,BC028191 AAH28191,AAH38969,AAI25041,Q08AS8,Q6P2S8,Q6PIV2,NP_859072,ACA05993,BAC76046 Hs.116679 DLNB13|FOXN5|MGC149486 protein-coding 1352257 FOXR2 forkhead box R2 15489334,15202027,15202009,12477932 139628 NM_198451,AL159987,BC012934 NP_940853,AAH12934,Q6PJQ5,ABZ92413 Hs.364260 FOXN6|MGC21658 protein-coding 1604612 FOXRED1 FAD-dependent oxidoreductase domain containing 1 15231747,11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863,10497265 55572 Q96CU9 AF103801,AF447877,AK023987,AK126067,AL136923,BC002910,BC013902,CR605186,CR612300,CR613695,CR618832,CR624638,NM_017547,AP001318,CH471065 AAF02421,AAQ04652,CAB66857,AAH02910,AAH13902,Q96CU9,CAL38585,NP_060017,EAW67681,EAW67682,EAW67683 Hs.317190 FP634|H17 protein-coding 1602317 FOXRED2 FAD-dependent oxidoreductase domain containing 2 16344560,15461802,14702039,12878157,12477932,9373149,8125298 80020 NM_024955,AL022313,CH471095,AK025714,AK026975,AK091053,AK225347,AU279706,BC015726,BC027716,BC040351,BG054783,CR456444,NM_001102371,CR598278,DA409026 NP_001095841,NP_079231,CAQ06701,CAQ06702,EAW60105,EAW60106,EAW60107,EAW60108,BAB15227,BAB15610,AAH15726,AAH27716,AAH40351,CAG30330,Q7Z6X0,Q7Z6X1,Q8IWF2 Hs.387601 FLJ23322|FLJ33734 protein-coding 1321722 FOXS1 forkhead box S1 The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. 1580863 9325056,17062144,16189514,15489334,12477932,11780052 2307 CH471077,AF042831,BC013408,BT009768,NM_004118,AL160175 EAW76413,AAC15420,AAH13408,AAP88770,O43638,ABM87104,ABW03842,NP_004109,CAI12817 Hs.516971 GDB:6540633 FKHL18|FREAC10|MGC4544 protein-coding 1346571 FPGS folylpolyglutamate synthase This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. While several transcript variants may exist for this gene, the full-length natures of only two have been biologically validated to date. These two variants encode distinct isoforms. 1580863 10964921,7721888,1409616,18381794,17891500,17875718,17286537,17119116,16707018,16169100,16122883,14702039,14676127,12663051,12477932,11309345,10777604,9312158,8662720,8521387,6934068,3828320 2356 NM_004957,NM_001018078,AL162586,AY007209,CH471090,U14939,U24253,U40868,AK056920,AY007210,AY007211,AY007212,BC007121,BC009901,BC064393,BE302497,BF345926,BT006639,CR589995,CR620207,M98045 NP_004948,NP_001018088,CAI39769,CAI39770,CAI39771,CAI39772,CAI39773,AAL08404,AAL08405,EAW87698,EAW87699,EAW87700,EAW87701,AAA85815,AAC13871,AAA87568,AAL08406,AAL08407,AAH64393,AAP35285,AAA35852,Q05932,Q5JU19,Q5JU22,Q6P2P6,Q96DJ6,Q96DJ7,Q96G81,Q96LE3,Q96LE4 Hs.335084 GDB:119138 protein-coding 1342569 FPGT fucose-1-phosphate guanylyltransferase L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. 1302737,1580863 9804772,16582493,16185085,16086588,15489334,12477932,9373149,8125298 1302737 8790 NM_003838,AC098692,AF017446,CH471059,AF017445,AK223254,BC020720,BC032308,CR743704 NP_003829,AAC82511,EAX06417,AAC73005,BAD96974,AAH20720,AAH32308,O14772,Q53FM8 Hs.632389 GDB:9956957 GFPP protein-coding 1322039 FPR1 formyl peptide receptor 1 1580863 12218158,10857861,10823817,10889468,10882119,10861041,10820279,2161213,18253729,18060741,18056353,17927965,17692291,17452560,17442310,17267694,17234990,16953235,16675446,16530386,16253958,16114510,16038804,16002663,15928303,15866865,15661400,15187149,15057824,12902510,12595898,12565836,12477932,12424254,12410796,11860029,11559706,10753626,10514456,8663057,8228254,8224916,7947984,7945424,7836371,6129903,2176894,1712023,1612600,1445895,1373134,1322204,2541200,11023526,16189514,15625007,15489334,15258259,15195697 2357 NM_002029,AC018755,AY301273,CH471135,L10820,BC005315,BQ016000,BT007429,CB993626,CR617277,M37128,M60626,M60627,S49810 NP_002020,AAF87842,AAP58403,EAW72040,EAW72041,EAW72042,AAA16863,AAH05315,AAP36097,AAA36362,AAA35847,AAD14906,P21462,AAA35846 Hs.753 GDB:127999 FMLP|FPR protein-coding 1316624 FPR2 formyl peptide receptor 2 1580863 1374236,9054386,17918787,17727628,17692291,17687636,17651798,17460114,17403678,17234990,17184966,17015746,16973129,16493055,15829413,15809093,15670157,15625007,15489334,15465011,15224191,15188355,15187149,15057824,14662886,12902510,12477932,12456400,12410796,12393391,12377951,11063592,11015447,10748237,9547339,9151906,8198572,7505609,1612600,1511907,1373134,10438703,10872839,10964542 2358 AAB23104 NM_001005738,NM_001462,AC018755,AY225226,CH471135,AF054013,AK290557,BC029125,BC071722,BM922150,D10922,M76672,M84562,M88107,U81501,X63819 CAA45319,AAB23104,P25090,ABM83031,ABM86225,NP_001005738,NP_001453,AAF87844,AAO67711,EAW72043,EAW72044,AAC13684,BAF83246,AAH29125,AAH71722,BAA01720,AAA58481,AAA52473,AAA60070,AAB51133 Hs.99855 GDB:127554 ALXR|FMLP-R-II|FMLPX|FPR2A|FPRH1|FPRH2|FPRL1|HM63|LXA4R protein-coding 1350649 FPRL2 formyl peptide receptor-like 2 1580863 8198572,17577578,16002663,15489334,15465011,15187149,14702039,12477932,12410796,12223529,11285256,1612600 2359 NM_002030,AC005946,AC018755,AY262690,CH471135,L14061,AK123030,AK292541,BC059388,BC069070,BC069593,BC069812,CB996360,M76673 NP_002021,AAC72102,AAP20654,EAW72045,AAA52474,BAF85230,AAH59388,AAH69070,AAH69593,AAH69812,AAA58482,P25089,Q6L5J4 Hs.445466 GDB:128855 FML2_HUMAN|FMLPY|FPRH1|FPRH2|RMLP-R-I protein-coding 1347403 FRA10A fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) 2431 1349447 FRA10B fragile site, BrdU type, rare, fra(10)(q25.2) 9660961 2432 AF053508 1352804 FRA10C fragile site, BrdU type, common, fra(10)(q21) 2433 1342818 FRA10D fragile site, aphidicolin type, common, fra(10)(q22.1) 2434 1350799 FRA10E fragile site, aphidicolin type, common, fra(10)(q25.2) 2435 1354211 FRA10F fragile site, aphidicolin type, common, fra(10)(q26.1) 2436 1344015 FRA10G fragile site, aphidicolin type, common, fra(10)(q11.2) 2437 GDB:125177 1347159 FRA11A fragile site, folic acid type, rare, fra(11)(q13.3) 2438 1344640 FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) 2439 1343180 FRA11C fragile site, aphidicolin type, common, fra(11)(p15.1) 2440 1352566 FRA11D fragile site, aphidicolin type, common, fra(11)(p14.2) 2441 1351163 FRA11E fragile site, aphidicolin type, common, fra(11)(p13) 2442 1345590 FRA11F fragile site, aphidicolin type, common, fra(11)(q14.2) 2443 1344099 FRA11G fragile site, aphidicolin type, common, fra(11)(q23.3) 2445 1353526 FRA11H fragile site, aphidicolin type, common, fra(11)(q13) 2446 1352857 FRA11I fragile site, distamycin A type, rare, fra(11)(p15.1) 2447 1352275 FRA12A fragile site, folic acid type, rare, fra(12)(q13.1) 2448 1349589 FRA12B fragile site, aphidicolin type, common, fra(12)(q21.3) 2449 1345607 FRA12C fragile site, BrdU type, rare, fra(12)(q24.2) 2450 1342894 FRA12D fragile site, folic acid type, rare, fra(12)(q24.13) 2451 1351364 FRA12E fragile site, aphidicolin type, common, fra(12)(q24) 2452 1352621 FRA13A fragile site, aphidicolin type, common, fra(13)(q13.2) 2453 1343327 FRA13B fragile site, BrdU type, common, fra(13)(q21) 2454 1345482 FRA13C fragile site, aphidicolin type, common, fra(13)(q21.2) 2455 1351244 FRA13D fragile site, aphidicolin type, common, fra(13)(q32) 2456 1352797 FRA14B fragile site, aphidicolin type, common, fra(14)(q23) 2457 1342515 FRA14C fragile site, aphidicolin type, common, fra(14)(q24.1) 2458 1349323 FRA15A fragile site, aphidicolin type, common, fra(15)(q22) 2459 1350433 FRA16A fragile site, folic acid type, rare, fra(16)(p13.11) 2460 1353014 FRA16B fragile site, distamycin A type, rare, fra(16)(q22.1) 2461 1345282 FRA16C fragile site, aphidicolin type, common, fra(16)(q22.1) 2462 1347785 FRA16D fragile site, aphidicolin type, common, fra(16)(q23.2) 2463 1351731 FRA16E fragile site, distamycin A type, rare, fra(16)(p12.1) 2464 1348627 FRA17A fragile site, distamycin A type, rare, fra(17)(p12) 2465 1345131 FRA17B fragile site, aphidicolin type, common, fra(17)(q23.1) 2466 1342689 FRA18A fragile site, aphidicolin type, common, fra(18)(q12.2) 2467 1348425 FRA18B fragile site, aphidicolin type, common, fra(18)(q21.3) 2468 1348856 FRA18C fragile site, folic acid type, rare, fra(18)(q22.1) 116710 1345549 FRA19A fragile site, 5-azacytidine type, common, fra(19)(q13) 4077049,2579891 2469 1349098 FRA19B fragile site, folic acid type, rare, fra(19)(p13) 2470 1349781 FRA1A fragile site, aphidicolin type, common, fra(1)(p36) 2360 1353010 FRA1B fragile site, aphidicolin type, common, fra(1)(p32) 2361 1344738 FRA1C fragile site, aphidicolin type, common, fra(1)(p31.2) 2362 1348098 FRA1D fragile site, aphidicolin type, common, fra(1)(p22) 2363 1351376 FRA1E fragile site, aphidicolin type, common, fra(1)(p21.2) 2364 1342830 FRA1F fragile site, aphidicolin type, common, fra(1)(q21) 2365 1354217 FRA1G fragile site, aphidicolin type, common, fra(1)(q25.1) 2366 1345516 FRA1H fragile site, 5-azacytidine type, common, fra(1)(q42) 9763679 2367 1348788 FRA1I fragile site, aphidicolin type, common, fra(1)(q44) 2368 1352507 FRA1J fragile site, 5-azacytidine type, common, fra(1)(q12) 2369 1343534 FRA1K fragile site, aphidicolin type, common, fra(1)(q31) 2370 1346848 FRA1L fragile site, aphidicolin type, common, fra(1)(p31) 2371 1350410 FRA1M fragile site, folic acid type, rare, fra(1)(p21.3) 1865478 2372 1346089 FRA20A fragile site, folic acid type, rare, fra(20)(p11.23) 2471 1343465 FRA20B fragile site, aphidicolin type, common, fra(20)(p12.2) 2472 1347434 FRA22A fragile site, folic acid type, rare, fra(22)(q13) 2473 1345115 FRA22B fragile site, aphidicolin type, common, fra(22)(q12.2) 2474 1353659 FRA2A fragile site, folic acid type, rare, fra(2)(q11.2) 2373 1350381 FRA2B fragile site, folic acid type, rare, fra(2)(q13) 2374 1347807 FRA2C fragile site, aphidicolin type, common, fra(2)(p24.2) 2375 1345203 FRA2D fragile site, aphidicolin type, common, fra(2)(p16.2) 2376 1351711 FRA2E fragile site, aphidicolin type, common, fra(2)(p13) 2377 1349009 FRA2F fragile site, aphidicolin type, common, fra(2)(q21.3) 2378 1346489 FRA2G fragile site, aphidicolin type, common, fra(2)(q31) 2379 1343904 FRA2H fragile site, aphidicolin type, common, fra(2)(q32.1) 2380 1342749 FRA2I fragile site, aphidicolin type, common, fra(2)(q33) 2381 1352028 FRA2J fragile site, aphidicolin type, common, fra(2)(q37.3) 2382 1349565 FRA2K fragile site, folic acid type, rare, fra(2)(q22.3) 2383 1345134 FRA3A fragile site, aphidicolin type, common, fra(3)(p24.2) 2384 1346932 FRA3B fragile site, aphidicolin type, common, fra(3)(p14.2) 3864602 1344463 FRA3C fragile site, aphidicolin type, common, fra(3)(q27) 2386 1346264 FRA3D fragile site, aphidicolin type, common, fra(3)(q25) 2387 1344517 FRA4A fragile site, aphidicolin type, common, fra(4)(p16.1) 2388 1346962 FRA4B fragile site, BrdU type, common, fra(4)(q12) 2389 1349862 FRA4C fragile site, aphidicolin type, common, fra(4)(q31.1) 2390 1352430 FRA4D fragile site, aphidicolin type, common, fra(4)(p15) 2391 1350839 FRA4E fragile site, unclassified, common, fra(4)(q27) 2392 1349065 FRA5A fragile site, BrdU type, common, fra(5)(p13) 2393 1351685 FRA5B fragile site, BrdU type, common, fra(5)(q15) 2394 1347830 FRA5C fragile site, aphidicolin type, common, fra(5)(q31.1) 2396 1348925 FRA5D fragile site, aphidicolin type, common, fra(5)(q15) 2397 1353291 FRA5E fragile site, aphidicolin type, common, fra(5)(p14) 2398 1345413 FRA5F fragile site, aphidicolin type, common, fra(5)(q21) 2399 1351475 FRA5G fragile site, folic acid type, rare, fra(5)(q35) 2213847 2400 1350567 FRA6A fragile site, folic acid type, rare, fra(6)(p23) 2401 1347907 FRA6B fragile site, aphidicolin type, common, fra(6)(p25.1) 2402 1346301 FRA6C fragile site, aphidicolin type, common, fra(6)(p22.2) 2403 1343775 FRA6D fragile site, BrdU type, common, fra(6)(q13) 2404 1348809 FRA6E fragile site, aphidicolin type, common, fra(6)(q26) 2405 1346456 FRA6F fragile site, aphidicolin type, common, fra(6)(q21) 2406 1345202 FRA6G fragile site, aphidicolin type, common, fra(6)(q15) 2407 1352389 FRA7A fragile site, folic acid type, rare, fra(7)(p11.2) 2408 1342909 FRA7B fragile site, aphidicolin type, common, fra(7)(p22) 2409 1351450 FRA7C fragile site, aphidicolin type, common, fra(7)(p14.2) 2410 1354027 FRA7D fragile site, aphidicolin type, common, fra(7)(p13) 2411 1344601 FRA7E fragile site, aphidicolin type, common, fra(7)(q21.2) 2412 1347078 FRA7F fragile site, aphidicolin type, common, fra(7)(q22) 2413 1347091 FRA7G fragile site, aphidicolin type, common, fra(7)(q31.2) 2414 1352826 FRA7H fragile site, aphidicolin type, common, fra(7)(q32.3) 2415 1342938 FRA7I fragile site, aphidicolin type, common, fra(7)(q36) 2416 1345597 FRA7J fragile site, aphidicolin type, common, fra(7)(q11) 2417 1350581 FRA8A fragile site, folic acid type, rare, fra(8)(q22.3) 2418 1347164 FRA8B fragile site, aphidicolin type, common, fra(8)(q22.1) 2419 1346653 FRA8C fragile site, aphidicolin type, common, fra(8)(q24.1) 2421 1343410 FRA8D fragile site, aphidicolin type, common, fra(8)(q24.3) 2422 1347732 FRA8E fragile site, distamycin A type, rare, fra(8)(q24.1) 2423 1345060 FRA8F fragile site, unclassified, rare, fra(8)(q13) 2424 1345075 FRA9A fragile site, folic acid type, rare, fra(9)(p21) 2425 1354504 FRA9B fragile site, folic acid type, rare, fra(9)(q32) 2426 1350706 FRA9C fragile site, BrdU type, common, fra(9)(p21) 2427 1347894 FRA9D fragile site, aphidicolin type, common, fra(9)(q22.1) 2428 1343341 FRA9E fragile site, aphidicolin type, common, fra(9)(q32) 2429 1352755 FRA9F fragile site, 5-azacytidine type, common, fra(9)(q12) 2430 733101 FRAG1 FGF receptor activating protein 1 10585768,16407401,15983387,12477932 27315 NM_014489,AC090587,AF159621,CH471158,AF159615,AK292181,AL049261,AL096753,AY373030,BC009930,CR590396,CR604431,CR605507,CR607759,CR608371,CR613312,CR618702,CR619655,CR622521,CR626434 NP_055304,AAF19156,EAX02568,EAX02569,EAX02570,EAX02571,EAX02572,EAX02573,EAX02574,AAF12755,BAF84870,CAB46428,AAQ75733,AAH09930,Q9UHJ9 Hs.133968 MGC799|PGAP2 protein-coding 68533 FRAP1 FK506 binding protein 12-rapamycin associated protein 1 The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The CDT6 gene is located in an intron of this gene. 1625616,1582609,1625611,1580863 11853878,15718470,15539461,15755954,15809305,18426977,18423201,18292222,18250445,18215133,18056791,18048359,18006825,17996122,17991864,17935273,17928295,17914450,17911267,17889116,15489897,15489334,15452223,15388791,15317677,15292274,15268862,15218033,15150271,15056668,15028555,15004009,15001544,14970221,14729629,14668532,14578359,12912989,12820960,12813467,12807916,12718876,12665511,12604610,12558800,12477932,12370290,12271141,12242281,12231510,12172553,12150926,12150925,12145207,12105188,12080086,12030785,12000755,11967149,11930000,11914378,11884412,11777913,11733037,11729323,11691993,11691836,11438723,11426320,11114166,10942774,10910062,10779345,10702316,10664457,10364159,17726467,17724079,17698027,17693255,17683115,17656678,17640392,17631500,17616691,17616684,17604271,17595159,17565979,17562865,17562705,17553806,17545512,17488873,17483438,17482291,17470430,17463046,17461779,17409838,17372934,17363738,17351147,17329620,17329400,17318075,17289850,17253963,17215282,17148679,17114181,17110454,17102641,17075574,17052453,17028174,17018601,17016437,16963469,16962653,16959214,16954686,16929481,16927414,16916907,16914728,16912980,16912159,16884363,16874098,16849522,16870609,16847060,16824195,16818690,16786123,16710414,16652388,16543150,16467080,16427044,16407298,16354680,16341243,16286006,16282343,16242075,16183647,16141350,16109716,16099944,16098202,16049009,16027121,16006564,15953364,15905173,15899889,15878852,15854902,15843522,15802268,15723049,15708965,15702344,15659381,15657358,15632201,15632115,15624760,15623621,15605414,15604215,15584862,15580312,15576463,15522880,15496972,10325225,10089303,9653645,9465032,9434772,9405468,9099849,9092573,8662507,8660990,8083223,8008069,7809080,7539137,11602639,15467718 1625616,1582609,1625611 2475 NM_004958,AF152840,AJ300188,AL049653,AL109811,AL359082,AL391561,CH471130,AB209995,AK126762,BC117166,L34075,L35478,U88966 NP_004949,CAC15570,CAC42395,EAW71681,EAW71682,EAW71683,BAE06077,AAI17167,AAA58486,AAC41713,AAC39933,P42345,Q4LE76,Q5T2J5,Q5TER3,Q96QW8 Hs.338207 GDB:597698 FLJ44809|FRAP|FRAP2|MTOR|RAFT1|RAPT1 1643585 SGHRL1_H protein-coding 1315178 FRAS1 Fraser syndrome 1 The FRAS1 gene encodes a putative extracellular matrix (ECM) protein and is mutated in Fraser syndrome (MIM 219000) (McGregor et al., 2003 [PubMed 12766769]).[supplied by OMIM] 1598960 18155042,17654118,15489334,14702039,12766770,12766769,12477932,10819331,3118036,14730302 1598960 80144 AC093652,AC093886,AC093897,AC104808,AC131945,AJ512501,CH471057,AB040933,AK025684,AK027833,AK092082,AK096838,AL157471,AL831853,AL833581,BC009254,BC020192,BC052281,BC064487,NM_025074,BC094853,BC131820,BC131821,BX647420,BX647949,CR627393 NP_079350,AAY41027,CAD54734,EAX05821,BAA96024,BAB15216,BAB55399,BAC03800,CAH10691,CAD38554,AAH20192,AAH52281,AAH64487,AAI31821,AAI31822,CAH10488,Q05CW8,Q4W596,Q69YV4,Q6AI26,Q86XX4 Hs.369448 DKFZp686I05113|DKFZp686P08111|FLJ14927|FLJ22031|KIAA1500 protein-coding 1604648 FRAT1 frequently rearranged in advanced T-cell lymphomas The protein encoded by this gene belongs to the GSK-3-binding protein family. It may function in tumor progression and in lymphomagenesis. 16982607,16479254,15489334,15164054,12805274,12556519,12477932,12095675,11894125,11738041,11445844,10428961,9034327 10023 NM_005479,XM_001714291,AL355490,AY271248,CH471066,AB074890,BC034476,BE041458,U58975 NP_005470,XP_001714343,CAI40773,EAW49950,EAW49951,BAB86352,AAH34476,AAB97096,Q92837 Hs.126057 GDB:9954895 protein-coding 1350986 FRAT2 frequently rearranged in advanced T-cell lymphomas 2 The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. 1580863 9635432,15522877,15489334,15164054,12477932,12095675,11738041,11237732,8889548 23401 NM_012083,AL355490,CH471066,AB045118,AF062739,BC020165,BT009770,BU675503 NP_036215,CAI40774,EAW49949,BAB39165,AAC39786,AAH20165,AAP88772,O75474,Q53XP8,ABM86483 Hs.140720 GDB:9956512 MGC10562 protein-coding 1351085 FRAXA fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation) 2477 1347676 FRAXB fragile site, aphidicolin type, common, fra(X)(p22.31) 2478 1344516 FRAXC fragile site, aphidicolin type, common, fra(X)(q22.1) 2479 1353126 FRAXD fragile site, aphidicolin type, common, fra(X)(q27.2) 2480 1347191 FRAXE fragile site, folic acid type, rare, fra(X)(q28) 1605195 2481 1343853 FRAXF fragile site, folic acid type, rare, fra(X)(q28) 8499907,7874164 2482 L35600 GDB:321135 1345286 FRCL1 frc, fringe-like 1 (Drosophila) 387073 1351561 FRDA2 Friedreich ataxia 2 10735274,11523563 2420 GDB:9097651 1351313 FRDAP Friedreich ataxia pseudogene 122942 NG_002485,AC007955,AL049832 pseudo 1345384 FREM1 FRAS1 related extracellular matrix 1 15878328,15489334,15345741,15164053,15146197,14702039,12838346,12477932,8889548 158326 NM_144966,AL354672,AL390732,AL512643,BX648240,CH471071,AB160987,AK058190,BC031064,BU677942,BX537574,BX641104,CN425447,DN992860 NP_659403,CAH71824,CAH71826,CAH71827,EAW58688,EAW58689,EAW58690,BAD89015,BAB71709,AAH31064,CAE46048,Q5H8C1,Q5VV03 Hs.50850 C9orf143|C9orf145|C9orf154|FLJ25461|QBRICK|RP11-439N12.3 protein-coding 1347992 FREM2 FRAS1 related extracellular matrix protein 2 This gene encodes a membrane protein that belongs to the FRAS1 family. This extracellular matrix protein is thought to be required for maintaining the integrity of the skin epithelium and the differentiated state of renal epithelia. The protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions during morphogenetic processes. Mutations in this gene are associated with Fraser syndrome. 18203166,16880404,16335952,15838507,15345741,15146197,15057823,14702039,12477932,10737800 341640 NM_207361,AC017111,AL354819,AL590007,CH471075,AK127571,AK127633,AL708377,BG991015,BN000687,BX538150,BX538304,BX640686,CN291155,CR933724 NP_997244,EAX08607,EAX08608,BAC87040,CAH56764,CAD98036,CAD98088,CAE45813,CAI46253,Q5SZK8 Hs.253994 DKFZp686J0811|DKFZp781I048|KIAA1074 protein-coding 1343703 FREM3 FRAS1 related extracellular matrix 3 15815621,15345741 166752 XM_094074,XM_001127662,XM_001720656,AC139713,BE223071,BX091796 XP_094074,XP_001127662,XP_001720708,P0C091 Hs.252714 protein-coding 68618 FREQ frequenin homolog (Drosophila) This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. This protein is thought to be associated with secretory granules and may be involved in the regulation of neurosecretion. 11092894,17672918,16837555,16402081,16189514,15489334,15164053,14760944,14726528,14702039,14607934,14512421,12928444,12783849,12496348,12477932,12351722,12244129,12006624,11836243,11825672,11606724,11526106,11115393,7488079 23413 NM_014286,AL360004,CH471090,AF134479,AF186409,AK023889,AK024709,AL161981,BC004856,BC008698,CR597605,CR612062,X84048 NP_055101,CAI16951,EAW87926,EAW87927,AAP97256,AAF01804,AAH04856,CAA58867,P62166 Hs.705395 GDB:9956526 DKFZp761L1223|FLUP|NCS-1|NCS1 protein-coding 1320772 FRG1 FSHD region gene 1 This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. 1580863 16341202,15635413,15489334,15060122,12665801,12477932,11991638,10512680,9132141,8733123 2483 NM_004477,AF146191,CH471056,AA749391,AK291890,BC053997,BG426031,L76159 NP_004468,AAD46768,EAX04600,BAF84579,AAH53997,AAA95939,Q14331 Hs.203772 GDB:3789436 FRG1A|FSG1 protein-coding 1606665 FRG1B FSHD region gene 1 family, member B 14702039,12477932,11780052 284802 NR_003579,AL441988,CH471240,BC062724,BC062743,BC095491 CAC27358,EAW80443,EAW80444,AAH62743,Q6P5Q9,Q96ND1,Q9BZ01 Hs.653099 GDB:11504927 C20orf80|MGC72104|bA348I14.2 pseudo 1606060 FRG2 FSHD region gene 2 15520407,12176321,11829491 448831 NM_001005217,AF146191,AY714545 NP_001005217,AAU14220,Q64ET8 Hs.626907 FRG2A protein-coding 1642830 FRG2B FSHD region gene 2 family, member B 15520407,15164054,11829491 441581 NM_001080998,AL731696,AY028079,AY744466 NP_001074467,AAK21977,AAV30885,Q96QU4 Hs.690471 protein-coding 1642829 FRG2C FSHD region gene 2 family, member C 16641997,15520407 285299 XM_209554,NM_001124759,AC108724 XP_209554,NP_001118231,A6NGY1 Hs.274541 protein-coding 734122 FRK fyn-related kinase The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. 1580863 7510261,7664264,7696183,15951569,15489334,15082191,12750000,12725532,12569567,12477932,8099900,16189514 2444 NM_002031,AL121963,AL357141,CH471051,BC012916,U00803,U22322 NP_002022,CAB87592,CAI16469,EAW48241,AAH12916,AAA18284,AAC50116,P42685,Q9NTR5,ABM85569 Hs.89426 GDB:355675 GTK|PTK5|RAK protein-coding 1352660 FRMD1 FERM domain containing 1 1580863 14702039,14574404 79981 AK026268,AK074110,AK097179,NM_024919,NM_001122841,AL589733,CH471051,AK097579,AK125963,AL133077 EAW47472,BAB15421,BAB84936,BAC04972,NP_079195,NP_001116313,CAI12329,CAI12331,EAW47471,CAB61397,Q5SZU5,Q5SZU6,Q8N878,Q8TEL2,Q9H645 Hs.266746 DKFZp434O0117|FLJ00181|FLJ22615|FLJ40260|bA164L23.1 protein-coding 1312459 FRMD3 FERM domain containing 3 Protein 4.1 of red blood cells, or 4.1R (EPB41; MIM 130500), is a multifunctional protein essential for maintaining erythrocyte shape and membrane mechanical properties. The protein 4.1 family comprises a group of structural proteins that includes, in addition to 4.1R, 4.1G (general type; MIM 603237), 4.1B (brain type; MIM 605331), 4.1N (neuron type; MIM 602879), and 4.1O (ovary type).[supplied by OMIM] 737633 17260017,14702039,12601556,12477932,9373149,8125298 737633 257019 NM_174938,AL137847,AL161786,AL353641,AL450026,CH471089,AK094281,AK223597,AY137774,BC023560,BC037253,BC041376,BX647549,EF560742 NP_777598,CAI40734,CAI40735,CAI40736,CAM19673,CAH72749,CAH72750,CAM17460,CAM19643,CAM19644,EAW62647,EAW62648,EAW62649,EAW62650,EAW62651,BAC04321,BAD97317,AAN52119,AAH23560,AAH37253,ABQ59052,A2A2Y4,Q8IW02 Hs.709357 4.1O|EPB41L4O|EPB41LO|MGC20553|P410|RP11-439K3.2 protein-coding 1350302 FRMD4A FERM domain containing 4A 737633 14702039,12477932,10718198 737633 55691 AB037715,AK001072,AK057828,AK093978,AK094045,AK289693,BC018891,BC151244,NM_018027,AC044781,AC069025,AL157392,AL157896,AL365495,AL512660,AL607075,CH471072 EAW86275,EAW86276,EAW86277,BAA92532,BAA91492,BAF82382,AAI51245,Q5T377,Q5T378,Q9NW91,Q9P2Q2,NP_060497,CAI13127,CAI13129,CAI13296,CAI13299 Hs.330463,Hs.649163,Hs.656573 FLJ10210|FRMD4|KIAA1294|bA295P9.4 protein-coding 1348430 FRMD4B FERM domain containing 4B 1580863 15489334,14702039,12477932,11445584,10231032 23150 NM_015123,AC112221,AC135851,AB023230,AK000244,AK024086,AK091076,AL110231,AL832231,BC028291,BC043396,BC057836,BC110637,CB988073,DC340455 NP_055938,BAA76857,AAH28291,AAH57836,AAI10638,Q2TB00,Q6PEW6,Q9Y2L6 Hs.371681 6030440G05Rik|GRSP1|KIAA1013 protein-coding 1605911 FRMD5 FERM domain containing 5 15489334,14702039,12477932 84978 NM_032892,AC023356,AC073940,AC090513,AC090516,CH471082,AK090572,AK123018,AK290013,BC007796,BC020191,BC043486,BC053647 NP_116281,EAW77249,EAW77250,EAW77251,EAW77252,EAW77253,EAW77254,EAW77255,BAC03480,BAF82702,AAH53647,Q7Z6J6 Hs.578544 FLJ41022|MGC14161 protein-coding 1347019 FRMD6 FERM domain containing 6 16341207,16189514,16137681,15489334,15324660,14702039,12508121,12477932 122786 NM_001042481,NM_152330,AL079307,AL122125,CH471078,AK021747,AK055545,AK126521,AK129995,AL833158,AL833380,AL833661,BC020521,BC029870,BX161430,BX647239,BX647863,BX648295 NP_001035946,NP_689543,EAW65666,EAW65667,EAW65668,EAW65669,EAW65670,EAW65671,BAB70950,AAH20521,AAH29870,CAD61902,CAI46062,Q5HYC4,Q96NE9,CAI46264 Hs.434914 C14orf31|EX1|MGC17921|Willin|c14_5320 protein-coding 1352948 FRMD7 FERM domain containing 7 18372314,18246032,18087240,17962394,17893669,17846367,17768376,17397053,17013395,16240070,15772651,15489334,14702039,12477932,10090899,2063919 90167 NM_194277,AL049792,AL109749,AL449383,CH471107,AK125336,AL161984,BC114371 NP_919253,CAI42080,EAX11785,BAC86135,AAI14372,Q6ZUT3 Hs.170776 GDB:119458 FLJ43346|NYS|NYS1|RP6-213H19.2 nystagmus 1, congenital protein-coding 1602672 FRMD8 FERM domain containing 8 16344560,14702039,12477932 83786 AF334946,AK056778,AK074850,AK291678,BC014498,BC033851,BC044658,BC051695,CR608928,DA863645,DB453671,NM_031904,AP000944,CH471076 EAW74384,EAW74385,EAW74386,AAG50295,BAB71282,BAC11244,BAF84367,AAH33851,AAH44658,AAH51695,Q8N4M4,Q96MK6,Q9BZ67,NP_114110 Hs.578433 FKSG44|FLJ32216|FLJ90369|MGC31785 protein-coding 1313132 FRMPD1 FERM and PDZ domain containing 1 12477932,10231032 22844 NM_014907,AL513165,AL591470,CH471071,AB023184,BC114965,BX648967 NP_055722,CAI16156,EAW58270,EAW58271,BAA76811,AAI14966,CAI46019,Q5SYB0 Hs.163990 FRMD2|KIAA0967|MGC138833|RP11-263I4.1 protein-coding 1349524 FRMPD2 FERM and PDZ domain containing 2 This gene encodes a FERM and PDZ domain-containing protein and is located in a region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions. This copy of the gene is full-length and is in the telomeric duplicated region. The exact function of this gene is unknown; however, FERM domains often play a role in signal transduction pathways. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 12477932 143162 NM_152428,NM_001018071,NM_001017929,NM_001042512,XM_001714969,XM_001714608,AC013284,AC074325,CH471187,AK123038,AK131386,AY491519,BC031614,BC040910,BC073954,CR749241 NP_689641,NP_001018081,NP_001035977,XP_001715021,XP_001714660,EAW93139,EAW93140,EAW93141,BAC85520,BAD18537,AAS79660,AAH31614,AAH73954,CAH18097,NP_001017929,Q68DX3,AAI56409,AAI57132 Hs.664786 MGC35285|MGC87776|MGC87777|MGC90186|PDZD5C|PDZK5C protein-coding 1350685 FRMPD2L1 FERM and PDZ domain containing 2 like 1 This gene encodes the FRMPD2 related 1 protein and is located in a region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions. This gene is shorter than the FRMPD2 gene, and the transcript products are nearly identical to the shorter transcript variants observed for the FRMPD2 gene. It is located in the middle duplicated region. Alternatively spliced transcript variants encoding different isoforms have been identified. 12477932 728798 NM_001042524,NM_001042525,BX005072,BC071635,BC072395,BC110798 NP_001035989,NP_001035990,CAI23643,AAH71635,AAH72395,AAI10799,Q6IN97 Hs.573863,Hs.709611 PDZD5A|PDZK5A|yX59F3.2 pdz domain containing 5a protein-coding 1351209 FRMPD2L2 FERM and PDZ domain containing 2 like 2 This gene encodes the FRMPD2 related 2 protein and is located in a region of chromosome 10q which contains a segmental duplication resulting in three nearly identical regions. This gene is shorter than the FRMPD2 gene, and the transcript products are nearly identical to the shorter transcript variants observed for the FRMPD2 gene. It is located in the centromeric duplicated region. Alternatively spliced transcript variants encoding different isoforms have been identified. 12477932 728603 NM_001042515,NM_001042516,AL450334,BC071635,BC072395,BC110798 NP_001035980,NP_001035981,CAI15687,CAI15688,AAH71635,AAH72395,AAI10799,Q5T1G5,Q6IN97 Hs.573863,Hs.709611 PDZD5B|PDZK5B|bA556L1.2 pdz domain containing 5b protein-coding 1601735 FRMPD3 FERM and PDZ domain containing 3 15772651,11347906 84443 XM_042978,XM_937007,XM_001714381,AL035088,AL137787,AB058720 XP_042978,XP_942100,XP_001714433,CAI42175,BAB47446,Q5JV73 Hs.496546 KIAA1817|RP5-1070B1.1 protein-coding 1353602 FRMPD4 FERM and PDZ domain containing 4 1580863 12477932,12421765,9205841 9758 NM_014728,AC002981,AC112499,AC112655,AC112657,AC119619,CH471074,AB002314,AK289694,BC113700,BC113702 NP_055543,EAW98804,BAA20774,BAF82383,AAI13701,AAI13703,Q14CM0 Hs.663678 KIAA0316|MGC142260|MGC142262|PDZD10|PDZK10 pdz domain containing 10 protein-coding 1604148 FRRS1 ferric-chelate reductase 1 Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM] 14499595,12477932 391059 NM_001013660,AC105270,AL451051,CH471097,AK131302,BC029438 NP_001013682,EAW72988,BAD18470,Q6ZNA5,AAI56176,AAI57017 Hs.454779 SDFR2|SDR2 protein-coding 1317842 FRS2 fibroblast growth factor receptor substrate 2 1580863 9660748,9069267,7806500,9182757,10629055,16284401,17145761,16344560,15738000,15564375,15489334,15342556,12974390,12688531,12571252,12477932,12419216,12402043,12154000,11997436,11877385,11447289,11360177,11353842,11278445,11090629,10822386,10783152,10650943,10383403,10092678,9632781,8780727,8761293,16189514,11390647 10818 NM_001042555,NM_006654,AC018921,CH471054,AF036717,AK226068,BC021562,BP217337,BP230333,BP280775,BP311537,BX647520,BX647544,DA189114,DA311708,DA762876 Q8WU20,Q9BTS6,NP_001036020,NP_006645,EAW97225,EAW97226,EAW97227,AAB92554,AAH21562 Hs.593446 FRS2A|FRS2alpha|SNT|SNT-1|SNT1 protein-coding 1321005 FRS3 fibroblast growth factor receptor substrate 3 The protein encoded by this gene is a substrate for the fibroblast growth factor receptor. It is found in peripheral plasma membrane and functions in linking FGF receptor stimulation to activators of Ras. 1580863 8761293,16702953,15738000,15489334,15485655,15188402,15094036,14574404,12586769,12477932,11877385,11432792,10629055,10383403,9660748 10817 NM_006653,AL365205,CH471081,AF036718,BC010611,BM741175,CR457026,CR598942 NP_006644,CAI13183,CAI13184,CAO72056,EAX04060,AAB92555,AAH10611,CAG33307,O43559,ABM83001,ABM86194 Hs.194208 FRS2B|FRS2beta|MGC17167|SNT-2|SNT2 protein-coding 1349911 FRY furry homolog (Drosophila) 15057823,14702039,9847074,8812419 10129 NM_023037,AC000062,AC002483,AL137143,AL138692,AL445212,CH471075,Z74739,AA993094,AK091422,AL049784,BX537670,CR621863,U50534,U57961 NP_075463,AAB46343,AAC35295,CAI40475,CAI40477,CAI40478,EAX08489,EAX08490,EAX08491,EAX08492,EAX08493,EAX08494,EAX08495,CAC94764,CAC94765,BAC03659,CAB42442,CAD97805,O14572,Q5JS89,Q5TBA8,Q5TBA9,Q7Z3N2,Q8NB82,Q96KW3,Q96KW4,Q99993 Hs.507669,Hs.591225 13CDNA73|214K23.2|C13orf14|CG003|bA207N4.2|bA37E23.1 chromosome 13 open reading frame 14 protein-coding 1352555 FRYL FRY-like 737633 17854671,16061630,12477932,10048485,9847074,17353931,16189514 737633 285527 NM_015030,XM_001127121,AC068037,AC096952,AB020633,AK025034,AK127307,AK128452,AK128543,AK131250,AL137546,AL833170,AL833444,BC021803,BC040987,BC050336,CR627228,U80082 NP_055845,XP_001127121,BAA74849,BAC87492,BAD18429,CAB70804,AAH21803,AAH50336,CAH10365,AAD00351,O94915,Q6AI58,Q6ZNE6,Q6ZR29 Hs.631525 GDB:9954715 DKFZp686E205|FLJ16177|KIAA0826 protein-coding 1322704 FRZB frizzled-related protein 1580863 8824257,9096311,17702698,17600823,17420170,17237116,17195216,16889986,16344560,15818669,15489334,15340161,15221014,15210948,12477932,10728394,9178261,9118218 2487 NM_001463,AC105396,AC108514,CH471058,AK130009,AU117730,BC027855,BT019883,CR593578,CR620343,CR622855,U24163,U68057,U91903 NP_001454,AAY24241,AAX93117,EAX10958,AAH27855,AAV38686,AAC50736,AAC51217,AAB51298,Q53QN4,Q53QT6,Q92765,ABM81870,ABM85032 Hs.128453 GDB:5885889 FRE|FRITZ|FRP-3|FRZB-1|FRZB-PEN|FRZB1|FZRB|SFRP3|SRFP3|hFIZ protein-coding 1343697 FSCB fibrous sheath CABYR binding protein 17855365,16381901,15489336,15489334,12477932,11230166,11076863 84075 NM_032135,AL356022,CH471078,AK124110,AL136775,BC039878,CR933608,CR933626 NP_115511,EAW65797,CAB66709,AAH39878,CAI45927,CAI45935,Q0JUE7,Q5H9T9,CAL37864 Hs.307086 C14orf155|DKFZP434F1017|DKFZp686A1639|DKFZp686J0539 chromosome 14 open reading frame 155 protein-coding 1344433 FSCN1 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 1580863 8647875,8068206,18283337,17671164,17638895,17510372,17473384,17255360,17029629,16977579,16533778,16049480,15882811,15671545,15489334,14702039,14535950,14532112,12902483,12789270,12592367,12477932,12139639,12100631,10783262,9565110,9558080,9033270,8999969,8970159,8579121,7933116,3886649,1602151,17353931,16189514 6624 NM_003088,AY044229,AC006483,CH471144,AK095254,AK095830,BC000521,BC006304,BC007539,BC007643,BC007948,BC007988,BT006636,CR595478,CR602051,CR610967,CR620934,U03057,U09873 NP_003079,AAL01526,EAW87344,EAW87345,EAW87346,AAH00521,AAH06304,AAH07539,AAH07643,AAH07948,AAH07988,AAP35282,AAA86442,AAA62201,Q16658,Q96IH1,ABM82328,ABM85506 Hs.118400 GDB:386602 FLJ38511|SNL|p55 protein-coding 1319003 FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. 1598962,1580863 10783262,18450588,17251446,16280978,15489334,14661542,14609921,12477932,11527955,10892848,10234509,8889549,11795941 1598962 25794 NM_001077182,NM_012418,AC139149,AF066062,AF066063,AF066064,AF066065,CH471099,AA046878,AF030165,AI189621,BC126295,BC130330 NP_001070650,NP_036550,AAC18604,EAW89654,AAB86481,AAI26296,AAI30331,O14926 Hs.118555 GDB:10796028 RFSN|RP30 protein-coding 1353847 FSCN3 fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 1580863 10783262,15489334,12690205,12477932,11925108,9373149,8125298 29999 NM_020369,AC000357,AC073934,CH236947,CH471070,AF281049,AK225867,BC035606 NP_065102,EAL24319,EAW83632,AAF91439,AAH35606,Q9NQT6,ABM82995,ABM86188 Hs.702318 GDB:10796030 protein-coding 1345798 FSD1 fibronectin type III and SPRY domain containing 1 12154070,11267680,18096707,18091320,14702039,12477932,12445389 79187 NM_024333,AC008616,CH471139,AF316829,AK021750,AY032617,BC003124,BC016442,CR599769,CR602397,CR603556,CR610791,CR611611,CR622179,CR622875,CR623547 NP_077309,EAW69236,EAW69237,EAW69238,AAK26747,BAB13885,AAK51145,AAH03124,Q9BTV5,ABM82759,ABM85946 Hs.28144 GLFND|MGC3213|MIR1 protein-coding 1353389 FSD1L fibronectin type III and SPRY domain containing 1-like 15342556,15164053,12477932,11267680 83856 NM_207647,NM_031919,AL158070,AL161627,CH471105,AF088031,AF316830,BC036746,BP229804,BP365251,CR936789,DN999402 NP_997530,NP_114125,CAI13072,CAI13073,CAI13074,EAW59000,AAK26748,AAH36746,Q5T879,Q9BXM9 Hs.136901 CCDC10|CSDUFD1|FSD1CL|FSD1NL|MGC45564|MIR1 coiled-coil domain containing 10 protein-coding 1346005 FSD2 fibronectin type III and SPRY domain containing 2 14702039,12477932 123722 NM_001007122,AC044907,AC105339,AK122875,AL833295,BC130569 NP_001007123,AAI30570,A1L4K1 Hs.513091 GDB:11507939 RP11-127F21|SPRYD1 spry domain containing 1 protein-coding 1348073 FSGS1 focal segmental glomerulosclerosis 1 9461087 10685 GDB:9958139 1347721 FSGS2 focal segmental glomerulosclerosis 2 10368108 10684 GDB:9958137 69084 FSHB follicle stimulating hormone, beta polypeptide The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. 1601221,1580863 8220432,14718574,17227474,17079072,17045735,16554811,16100240,15662415,15489334,15271874,14585810,12963710,12568861,12568849,12477932,12374801,12161499,11900895,11502795,11501762,11222739,11119757,11076863,10737800,10563789,10395410,10391209,9271483,7850869,6774759,4835136,3151250,3139991,2885163,2494176,1249074 1601221 2488 NM_000510,NM_001018080,AL358944,CH471064,DQ386645,DQ434892,EF198021,EF585490,EU081884,M16646,M16647,M24540,M54914,BC113488,BC113490,BI033915,CD108062,EF585489 NP_000501,NP_001018090,EAW68260,ABD46886,ABD84005,ABM88373,ABQ57402,ABU96749,AAA52476,AAA52470,AAB02868,AAI13489,AAI13491,ABQ57401,P01225,Q1W658,Q27RP3,AAI11849 Hs.36975 GDB:119955 protein-coding 1346762 FSHMD1A facioscapulohumeral muscular dystrophy 1A 2489 GDB:119914 1349442 FSHMD1B facioscapulohumeral muscular dystrophy 1B 2490 GDB:289785 735571 FSHR follicle stimulating hormone receptor The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863,704404,1601232,1601234,1601236,2289157 9020851,15196694,7553856,10715554,18430895,18321487,18159088,18062861,17937064,17721928,17706202,17609213,17603635,17556863,17544358,17356048,17296182,17288166,17272391,17169197,17169182,17092637,17059863,17045735,17045734,17030088,16887887,16871362,16864747,16762186,16758348,16710753,16574671,16452461,16338864,16213843,16168216,16084888,16026410,15970792,15955888,15950638,15948771,15890674,15889138,15886248,15817654,15662415,15625767,15579795,15489334,15249125,15166252,15080154,17259794,15070827,15037410,14998941,14726491,14695976,14556822,12969700,12960054,12930928,12930927,12915623,12907758,12869592,12850288,12571157,12477932,12403847,12398222,12145341,12095499,12059813,12039074,11994539,11988313,11889179,11383926,10395410,10391209,10379886,9851774,9769327,9528938,9408742,9100567,8855829,8747461,8432542,8230163,7926278,7916967,1709010,1359889,1322283,1301382,12374801,12356937 1601232,1601234,1601236,2289157 2492 NM_181446,NM_000145,AC007189,AC079394,AC092533,CH471053,S73199,S73526,AK292562,AY429104,BC096831,BC118548,BC125270,M65085,M95489,S59900,X68044 NP_852111,NP_000136,AAX93229,AAX88895,EAX00187,EAX00188,EAX00189,AAB32071,AAB32225,BAF85251,AAR07899,AAH96831,AAI18549,AAI25271,AAA52477,AAA52478,AAB26480,CAA48179,P23945,Q05AH0,Q4ZFZ2,Q53RW2 Hs.1428 GDB:127510 FSHRO|LGR1|MGC141667|MGC141668|ODG1 protein-coding 1315740 FSIP1 fibrous sheath interacting protein 1 737633 14702039,12606363,12477932 737633 161835 AK093308,AY260140,NM_152597,AC023908,AC037198,CH471125,BC045191,BX642685 EAW92384,BAC04128,NP_689810,EAW92382,EAW92383,AAP20066,AAH45191,Q8NA03 Hs.129598,Hs.650684 FLJ35989|HSD10 protein-coding 1352008 FSIP2 fibrous sheath interacting protein 2 1580863 14702039,12606363,12477932 285135 CR936597,NM_173651,AC007966,AC008174,CH471058,AK092099,BC121088,BC121089,BC128052 CAI56743,Q0IJ58,Q5CZC0,Q8NAU3,NP_775922,AAY15001,AAY14863,EAX10941,BAC03804,AAI21089,AAI21090,AAI28053 Hs.376600 FLJ34780 protein-coding 1349045 FSP fibroblast secretory protein 2909392 2493 GDB:118796 734008 FST follistatin Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. 737711,1601259,1580863 12702211,12697670,16198295,9828086,12514121,18184649,18001154,17893249,17644811,17347381,17296189,17284512,17053951,16935389,16627583,16150905,15489334,15472207,15340161,15296481,15064726,14578849,14563935,12720540,12651901,12531697,12477932,12242034,11948405,11580864,11232039,10702675,10411917,9799587,8836491,8536619,8288705,7887917,3380788,2036994 737711,1601259 10468 NM_006350,NM_013409,AC008901,CH471123,M19481,BC004107,CR541813 NP_006341,NP_037541,EAW54880,EAW54881,EAW54882,EAW54883,AAA35851,AAH04107,CAG46612,P19883,Q6FHE1,ABM84359,ABM87744 Hs.9914 GDB:9957086 FS protein-coding 69033 FSTL1 follistatin-like 1 This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. 1299173,1580863 7957230,15621726,17029022,9786430,16335952,16256108,15638044,15489334,15340161,15296481,12477932,11150499 1299173 11167 NM_007085,AB119283,AC063952,AC078982,CH471052,AF288537,AK025860,AK289388,AK291138,AL050228,BC000055,BC017413,BX647421,U06863 NP_009016,BAD12167,EAW79526,EAW79527,AAK01083,BAF82077,BAF83827,AAH00055,AAA66062,Q12841,Q549Z0,Q9BZQ0 Hs.709211 GDB:434868 FRP|FSL1 protein-coding 1348302 FSTL3 follistatin-like 3 (secreted glycoprotein) Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. 1580863 9671416,17959243,17868029,17671190,17395406,17296189,16935389,16627583,16338475,16150905,15527507,15489334,15451575,15340161,15130517,14739256,12975309,12970321,12531697,12477932,12397211,12194980,11948405,11571638,11459787,10737800 10272 BC005839,BC033119,BQ319646,BX439786,CR591319,CR605640,CR608155,CR609759,CR611991,CR616021,CR622567,U76702,NM_005860,AC004156,AC112708,CH471242,AK291958,AL050194,AY358917 AAQ89276,AAH05839,AAH33119,AAC64321,O95633,NP_005851,EAW61165,EAW61166,BAF84647 Hs.529038 GDB:9955844 FLRG|FSRP protein-coding 1316293 FSTL4 follistatin-like 4 15527507,15489334,14702039,12477932,10470851 23105 BX640845,NM_015082,AC005195,AC010307,AC010608,AC012614,CH471062,AB028984,AK026109,AK055684,AK056284,BC024300 AAH24300,CAE45915,Q6MZW2,NP_055897,EAW62291,EAW62292,BAA83013 Hs.483390 protein-coding 1315715 FSTL5 follistatin-like 5 15527507,15489334,12477932,10574462 56884 NM_020116,AC023136,AC079227,AC084281,AC096717,AC104793,AC105251,AC108163,CH471056,AB033089,AL137695,BC036502,BC036945,BC073978 NP_064501,AAY40948,AAY41023,AAY40934,EAX04846,BAA86577,CAB70877,AAH36502,Q4W5F8,Q4W5K3,Q4W5Q0,Q8N475 Hs.591707 DKFZp566D234|KIAA1263 protein-coding 1350076 FSTL6 follistatin-like 6 15527507 404757 733688 FTCD formiminotransferase cyclodeaminase FTCD is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool.[supplied by OMIM] 1580863,1300048 10029623,14759258,12815595,12477932,10830953,10773664,9677386 10841 NM_006657,NM_206965,AP001101,AP001468,AP001473,AP001475,CH471079,AA719282,AF169017,AF289021,AF289022,AF289023,AF289024,AL109817,BC032037,BC052248,BI966164,BM021970,U91541 NP_006648,NP_996848,EAX09308,EAX09309,EAX09310,EAX09311,EAX09312,EAX09313,EAX09314,EAX09315,AAF15558,AAG01852,AAG01853,AAG01854,AAG01855,AAH32037,AAH52248,AAD15627,O95954,Q49AR5 Hs.415846 GDB:9958401 LCHC1 protein-coding 732498 FTH1 ferritin, heavy polypeptide 1 This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. 737708,632698,1580863,737792 11821435,16169070,9924025,6589621,18160403,17970701,17761032,17702748,17081983,17070541,16964243,15967798,15755449,15727900,15489334,15302935,14998975,14702039,14615048,12477932,12435735,12387819,11988076,11964300,11903046,11783942,11389486,10855793,10833524,9581019,9159481,8915895,8889548,8630420,7931301,7916709,7821789,7616228,7504084,6653779,6323167,3858810,3857215,3840162,3685996,3023856,3020541,3003694,1992356,659425,16189514,15607035,15388255 737708,632698,737792 2495 AP003733,CH471076,DQ496108,M14212,X03487,AB062402,AF088851,AY258285,BC000857,BC001399,BC011359,BC013724,BC015156,BC015946,BC016009,BC016857,BC020300,BC035441,BC063514,BC066341,BC066961,BC070494,BC073750,BC104643,BC105802,BM971420,BQ887222,CR592751,CR599520,CR600685,CR608224,CR610503,CR611673,CR619451,NM_002032,CR624378,CR626495,D28463,L20941,M11146,M12937,M15383,M97164,X00318 NP_002023,EAW73989,EAW73990,EAW73991,EAW73992,EAW73993,EAW73994,EAW73995,EAW73996,EAW73997,EAW73998,EAW73999,EAW74000,EAW74001,ABF47097,AAA52438,CAA27205,BAB93489,AAF89523,AAP82230,AAH00857,AAH01399,AAH11359,AAH13724,AAH15156,AAH16009,AAH16857,AAH63514,AAH66341,AAH66961,AAH70494,AAH73750,AAI04644,AAI05803,BAA05829,AAA35833,AAA52437,AAA35830,AAA52479,AAA35832,CAA25086,P02794,Q6NS36,Q6NZ44,Q8TD27,ABM82039,ABM85219 Hs.524910,Hs.645560,Hs.705554 GDB:120617 FHC|FTH|FTHL6|MGC104426|PIG15|PLIF protein-coding 1352933 FTHL1 ferritin, heavy polypeptide-like 1 3862645 2496 NG_004768,AL034379 GDB:119224 pseudo 1353736 FTHL10 ferritin, heavy polypeptide-like 10 3862645,2821803 2502 NG_003028,AC026785 GDB:119225 pseudo 1350488 FTHL11 ferritin, heavy polypeptide-like 11 3862645 2503 NR_002204,NG_007332,AC023644 GDB:119226 pseudo 1347036 FTHL12 ferritin, heavy polypeptide-like 12 3862645 2504 NR_002205,NG_007333,AL513423 GDB:119227 pseudo 1349879 FTHL13 ferritin, heavy polypeptide-like 13 2821803,2307464,3862645,3840162 646362 NG_007334,AL391261,U26556 GDB:119228 FTHP3 pseudo 1346379 FTHL14 ferritin, heavy polypeptide-like 14 2821803 2506 GDB:119956 1343216 FTHL15 ferritin, heavy polypeptide-like 15 8045562,3862645 2507 NG_007335,AL590037,U09960 GDB:119957 pseudo 1351165 FTHL16 ferritin, heavy polypeptide-like 16 3003694,1395714 2508 XR_017932,XR_041433,XR_016025,AP000609,AP002343,X03486 GDB:128584 FTH2 pseudo 1347675 FTHL17 ferritin, heavy polypeptide-like 17 This gene is similar to a mouse gene that encodes a ferritin heavy polypeptide-like protein. 1580863 15489334,12704671,12477932,11279525 53940 NM_031894,AC006061,CH471074,AF285592,BC069069,BC069538,BC100768,BC100769,BC100770 NP_114100,EAW99060,AAK31971,AAH69069,AAH69538,AAI00769,AAI00770,AAI00771,Q9BXU8 Hs.333125 GDB:10796332 protein-coding 1344497 FTHL18 ferritin, heavy polypeptide-like 18 7566098 53939 AA383232 Hs.559059 GDB:10796333 protein-coding 1626261 FTHL19 ferritin, heavy polypeptide-like 19 389844 XM_001714232,XM_001716053,XM_936275 XP_001714284,XP_001716105,XP_941368 protein-coding 1349262 FTHL2 ferritin, heavy polypeptide-like 2 3862645 2497 NR_002200,NG_007330,AL096776 GDB:119958 pseudo 1347558 FTHL3P ferritin, heavy polypeptide-like 3 pseudogene 12477932,3862645 2498 NR_002201,AC074117,BC073777 AAH73777,Q6GMW9 Hs.658438 GDB:119229 FTHL3 pseudo 1344317 FTHL4 ferritin, heavy polypeptide-like 4 pseudogene 3862645 2499 NG_004769,AC139617 GDB:119230 pseudo 1347891 FTHL7 ferritin, heavy polypeptide-like 7 9116028,3862645 2500 NR_002202,NG_007331,AL354828 GDB:119232 pseudo 1342654 FTHL8 ferritin, heavy polypeptide-like 8 3862645 2501 NR_002203,NG_007336,L29074,CR614668 Hs.645560 GDB:119233 pseudo 1345882 FTHP1 ferritin, heavy polypeptide pseudogene 1 2307464 2509 NG_005639,AL049693,AL136973,J04755 Hs.453583 GDB:119231 FTHL5 pseudo 1343535 FTHP2 ferritin, heavy polypeptide pseudogene 2 9847074,7612929 2510 NG_001121,AC109352,U09962 GDB:230130 pseudo 1346340 FTL ferritin, light polypeptide This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. 1598966,1580863 16169070,7492760,18413574,18160403,18061976,17970701,17761032,17660802,17459943,16858508,16822677,16790936,16289162,16252260,16222695,16217041,16189514,16116125,15835264,15727900,15489334,15390032,15231748,15231747,15099026,14615048,12746423,12477932,12459518,12387819,12200611,12199804,12071855,11849230,11783942,11591653,11438811,10828006,10759702,10753629,10491119,9526618,9457670,9414313,9414300,9292547,9226182,9196065,9169099,9119260,8864140,8781450,8706699,8636399,8630420,8554925,8041631,7575610,7493028,6653779,6572903,3858810,3857215,3840162,3754330,3291676,3023856,3000916,2821803,659425,12646258 1598966 2512 BC008439,BC008441,BC013928,BC016346,NM_000146,AC026803,AY660755,CH471177,DQ094830,DQ094831,X03742,X03743,AF147331,BC016354,BC016715,BC018990,BC021670,BC058820,BC062708,BC067772,BX571748,CR456715,CR596451,CR608406,CR610876,M10119,M11147,M12938,Y09188,AK026534,AK130191,AK130205,AK131048,AK131050,AK131053,AY207005,AY466472,BC002991,BC004245 AAH08439,AAH13928,AAH16346,NP_000137,AAT66408,EAW52422,EAW52423,AAZ04399,AAZ04400,CAA27382,CAA27383,CAA27384,AAH16354,AAH16715,AAH18990,AAH21670,AAH58820,AAH62708,AAH67772,CAE11873,CAG32996,AAA35831,AAA52439,AAA52440,CAA70387,O00563,P02792,Q4FCH6,Q6DMM8,Q6IBT7,Q6NW17,Q6S4P3,Q86WI9,Q8WU07,Q96AU9,Q96CU0,Q9P150,ABM83906,ABM87227,AAO52739,AAS45711,AAH02991,AAH04245 Hs.433670,Hs.702433 GDB:119234 MGC71996 protein-coding 1606917 FTLL1 ferritin, light polypeptide-like 1 3754330,3032771,3000916,2821803 284764 NG_002715,AL031670 Q9BYW6 GDB:119235 dJ681N20.2 pseudo 1353556 FTLL2 ferritin, light polypeptide-like 2 2514 GDB:119236 1350618 FTLP ferritin, light polypeptide pseudogene 170514 NG_001037,AL162458 GDB:11506053 bA465L10.3 pseudo 1348564 FTMT ferritin mitochondrial 1580863 18160053,17565989,17459943,16797877,16537925,16448386,15755449,15489334,15201052,15065877,12547228,12477932,12406866,11953424,11323407 94033 NM_177478,AC117523,CH471086,BC034419 NP_803431,EAW48901,AAH34419,Q8N4E7 Hs.105324 MTF protein-coding 1625089 FTO fat mass and obesity associated 18487448,18478198,18477659,18469204,18445669,18437351,18426866,18426861,18379722,18347269,18346983,18339204,18336062,18335027,18316358,18281390,18256137,18252780,18249188,18239580,18218107,18159244,18055244,18048838,17996046,17991826,17959933,17942823,17928989,17928949,17917711,17804762,17658951,17657473,17496892,17463248,17434869,14702039,12477932,11214970,10501967,9110174,8889549,8619474,8358434 79068 NM_001080432,AC007347,AC007496,AC007909,CH471092,AB051539,AK096554,BC001284,BC003583,BC030798,BC132892,CR594763,U79260 NP_001073901,EAW82811,BAB21843,AAH03583,AAH30798,AAI32893,AAB50206,Q99770,Q9BVD9,Q9C0B1,AAI48443,AAI53033 Hs.528833 KIAA1752|MGC5149 protein-coding 1345273 FTSJ1 FtsJ homolog 1 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in the processing and modification of rRNA. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 17333282,15772651,15489334,15342698,15162322,14702039,12801724,12477932,10648622,10398246,8288232,1605216 24140 NM_177439,NM_012280,NM_177434,AF196972,CH471224,AF063015,AJ005892,AK024023,BC021047,BC023584,CR590233,CR595180,CR595767,CR600255,CR606907,CR609653,CR613129,CR616099,CR616867 NP_803188,NP_036412,NP_803183,EAW50782,EAW50783,EAW50784,AAC33734,CAA06749,AAH23584,Q9UET6 Hs.23170 GDB:11506055 CDLIV|JM23|MRX44|MRX9|SPB1|TRM7 protein-coding 1314273 FTSJ2 FtsJ homolog 2 (E. coli) The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. 1359074,1580863 12477932,11827451,10049595,15489334 1359074 29960 NM_013393,AC004971,AC005282,CH236953,CH471144,AF093415,AK024635,BC017106,BC017181,BC114514,BC114564,CR595456,CR596377,CR599851,CR607391,CR607631,CR614237,CR619939,CR621949,CR624501,CR626730,CR749618 NP_037525,EAW87223,EAW87224,AAF22488,AAH17106,AAI14515,AAI14565,CAH18412,Q1WWK4,Q24JR8,Q68D18,Q9UI43 Hs.279877 GDB:11506057 DKFZp686J14194|FJH1 protein-coding 1316109 FTSJ3 FtsJ homolog 3 (E. coli) Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. 1580863 17081983,16964243,16565220,16189514,15635413,15489334,14702039,12477932,12429849,17353931 117246 CR596573,NM_017647,AC015651,CH471109,AF147378,AF327355,AK000069,AK095861,AL834482,BC000131,BC036710,CR614545 NP_060117,EAW94273,EAW94274,EAW94275,AAL56015,BAA90924,CAD39141,AAH00131,AAH36710,Q8IY81,Q96SZ0,ABM83247,ABM86449 Hs.463785 GDB:11508897 EPCS3|FLJ20062 protein-coding 1344155 FUBP1 far upstream element (FUSE) binding protein 1 This gene encodes a ssDNA binding protein that activates the far upstream element (FUSE) of c-myc and stimulates expression of c-myc in undifferentiated cells. Regulation of FUSE by FUBP occurs through single-strand binding of FUBP to the non-coding strand. This protein has been shown to function as an ATP-dependent DNA helicase. 1580863 17353931,8125259,16964243,16672220,16628215,16289162,16169070,15592455,15489334,15302935,15146197,12819782,12477932,12176931,11875576,11239393,11222755,11071946,11003644,10882074,10734235,15502847 8880 NM_003902,AC096948,CH471059,AB209366,BC010083,BC017247,BQ649331,CN291186,U05040 NP_003893,EAX06356,EAX06357,EAX06358,BAD92603,AAH10083,AAH17247,AAA17976,Q59FU3,Q6PJY1,Q96AE4,ABM86845,ABW03830 Hs.567380 GDB:9958870 FBP|FUBP protein-coding 1315940 FUBP3 far upstream element (FUSE) binding protein 3 8940189,15489334,12477932 8939 NM_003934,AL353695,AL359092,CH471090,AL537190,BC001325,BC007874,BC015184,BC041566,BC137338,BC137340,BI461266,CR613887,U69127 NP_003925,EAW87937,EAW87938,AAH01325,AAH07874,AAI37339,AAI37341,AAC50893,Q5VYR6,Q5VYR7,Q96I24 Hs.98751,Hs.673029 GDB:9957918 FBP3 protein-coding 735673 FUCA1 fucosidase, alpha-L- 1, tissue Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.[supplied by OMIM] 704404,1598969,1580863 11698403,18217416,17133604,16773698,16710414,15489334,14702039,12477932,12408193,11549468,11389735,10094192,9781852,9762612,9373149,8673729,8504303,8401503,8399358,8125298,8097260,7874128,7827138,7815431,6096099,4074382,4052017,3817676,3780313,2983333,2894306,2803312,2642067,2174090,2012122,1281988 1598969 2517 NM_000147,AL590728,CH471134,M80815,AB074175,AK092914,AK095443,AK095455,AK225468,BC017338,BX956202,M10355,M29877,X01390 NP_000138,CAH74004,EAW95098,AAA52481,BAE45738,BAC04002,AAH17338,AAA52482,AAA35519,CAA25646,P04066 Hs.370858 GDB:119237 protein-coding 1350454 FUCA1P fucosidase, alpha-L- 1, tissue pseudogene 8504303,1977129 2518 NG_001122,AC092162,M80816 GDB:119238 pseudo 1344103 FUCA2 fucosidase, alpha-L- 2, plasma 1580863 16303743,15489334,14574404,12975309,12477932,11389735,6590153,2894306,1951444 2519 AL031320,CH471051,AK075458,AY358551,BC003060,BC051268,BG719318,BX537633,CA412923,CR591818,CR592398,CR594725,CR594942,CR596039,CR597166,CR597696,CR597899,CR604319,CR604354,NM_032020,CR604858,CR605098,CR616303,CR619981 NP_114409,CAB53746,CAD92494,CAD92495,EAW47865,BAC11633,AAQ88915,AAH03060,AAH51268,Q7Z6V1,Q9BTY2 Hs.591332 GDB:119239 MGC1314|RP1-20N2.5|dJ20N2.5 protein-coding 1315934 FUK fucokinase The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. 737633,1580863 12056818,15489334,14702039,12975309,12477932 737633 197258 NM_145059,AC012184,AC106804,AY829643,CH471241,AJ441184,AK056456,AK074168,AK092025,AK096727,AK123470,AK128387,AY358187,BC013735,BC032542,CR610176 NP_659496,AAV67949,EAW51814,EAW51815,EAW51816,EAW51817,CAD29647,BAB71190,BAB84994,BAC04852,BAC87413,AAQ88554,AAH13735,AAH32542,Q6UXW0,Q8N0W3,Q8N8I9,Q8TEF6,ABM84278,ABM87670 Hs.7907 1110046B12Rik|FLJ39408 protein-coding 1351437 FUNDC1 FUN14 domain containing 1 737633 15772651,15489334,12477932 737633 139341 NM_173794,AL022163,AL136137,CH471141,BC035015,BC042813 NP_776155,EAW59371,AAH35015,AAH42813,Q8IVP5 Hs.7549 MGC51029 protein-coding 1351400 FUNDC2 FUN14 domain containing 2 737633 11256614,16381901,15489336,15146197,14702039,12665903,12477932,11076863,8889548 737633 65991 NM_023934,NG_005114,BX470111,CH471172,AF267862,AF320778,AI886036,AJ272054,AK091092,AY032594,BC000255,BC072685,BC108657,BI463291,BM713884,BU738737,CN306694,CR591953,CR594530,CR596237,CR612292,CR612714,CR616296,CR616892 NP_076423,CAI41658,CAI41659,EAW72643,EAW72644,AAG44731,AAN51931,CAC81242,BAC03581,AAK51136,AAH00255,AAH72685,AAI08658,Q8NBB5,Q9BWH2,CAL38105,CAL38413 Hs.356050 DC44|FLJ33773|HCBP6|HCC3|MGC131676|MGC2495|PD03104 protein-coding 1604200 FUNDC2P FUN14 domain containing 2 pseudogene 220793 NG_005087,AC099522 pseudo 1323167 FURIN furin (paired basic amino acid cleaving enzyme) The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can efficiently cleave precursor proteins at their paired basic amino acid processing sites. Some of its substrates are: proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene is thought to play a role in tumor progression. The use of alternate polyadenylation sites has been found for this gene. 1582622,1580863 15082773,8615794,14744861,10567353,15899807,16912035,12787574,8262946,16537537,15078902,18174282,18064302,18037384,17948127,17938254,17909005,17905609,17905608,17641413,17477394,17360815,17283058,16942750,16648485,16627761,16407210,15911696,15659365,15637056,15611046,15606899,15584904,15564468,8189547,8163529,7774724,7639757,1360148,15135058,8940009,8670066,11723118,11571266,11422372,11416205,11380615,11331585,11323410,11294867,11237874,11071887,10900462,10888676,10887202,10593987,10373500,10050053,9927419,9827567,9695949,9653148,9642263,9599222,9442015,9412467,9166946,8995623,8846780,8546712,8174106,8020465,7782070,7781597,7737999,7721880,7690548,7508380,3023061,2674906,2408021,2251280,2112085,1741956,1713771,1629222,1571548,16600625,12354117,12071862,11921231,11861826,10452538,10225274,9521771,9094426,15489334,15371436,15247425,15240540,14741044,14739277,14644155,14596804,12736257,12670890,12644459,12586364,12584323,12547702,12482870,12477932,12460941,12411321,12220680,12058067,12058031,12006600,11861638,11804956 1582622 5045 NM_002569,A06939,AC124248,CH471101,S72615,X04329,X15723,BC008295,BC012181,S65442,X17094 NP_002560,CAA00605,EAX02111,EAX02112,CAA27860,CAA33745,AAH12181,AAB28140,CAA34948,P09958 Hs.513153 FUR|PACE|PCSK3|SPC1 protein-coding 1318882 FUS fusion (involved in t(12;16) in malignant liposarcoma) 1580863 8510758,9774382,12226669,17721195,17468515,16958678,16651630,16230076,15988032,15782174,15688424,15635413,15489334,15299008,15286712,12915480,12581738,12477932,12169268,12168660,11850402,11438536,11278855,10862698,10779324,10567410,10442642,9795213,9660765,9478924,9440806,9264461,8921363,8187069,7987849,7503811,2372777,12183049,17353931 2521 NM_004960,AC009088,AF071213,CH471192,AB208902,AK098774,AK130774,AK290936,AW514140,BC000402,BC002459,BC026062,BC051293,BT007131,BX423519,CR456747,CR591758,CR598388,CR599479,CR602284,CR608658,CR615094,CR616248,CR618073,CR618104,CR621237,CR626089,CR626591,R07006,S62140,S75762,U36561,X71428 Q16273,Q59H57,Q6IBQ5,Q8TBR3,ABM82631,ABM85808,NP_004951,AAC35284,AAC35285,EAW52150,EAW52151,EAW52152,BAD92139,BAF83625,AAH00402,AAH02459,AAH26062,AAP35795,CAG33028,AAB27102,AAB32714,AAA79948,CAA50559,P35637,Q13344 Hs.513522 GDB:136048 CHOP|FUS-CHOP|FUS1|TLS|TLS/CHOP|hnRNP-P2 protein-coding 1349988 FUSE polykaryocytosis promoter 2522 GDB:119241 1322327 FUSIP1 FUS interacting protein (serine/arginine-rich) 1 This gene product is a member of the serine-arginine (SR) family of proteins, which is involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein can influence splice site selection of adenovirus E1A pre-mRNA. It interacts with the oncoprotein TLS, and abrogates the influence of TLS on E1A pre-mRNA splicing. Alternative splicing of this gene results in at least two transcript variants encoding different isoforms. In addition, transcript variants utilizing alternative polyA sites exist. 1580863 12419250,11891055,11790298,10779324,9373149,9110174,8619474,8125298,17353931,15778465,16189514,9774382,11684676,17936706,17081983,16135820,15489334,15324660,15302935,14765198,14702039,14559993,12477932 10772 AK001656,AK054635,AK093226,AK001479,AK222994,AY007101,AY150180,AY150181,BC001107,BC005039,BC010074,BC071575,NM_006625,NM_054016,XM_001126406,XM_001126391,XM_001126417,XM_001126361,XM_001126375,AF419332,AL590609,AY048592,CH471134,AF047448,AF067730,AF419331,AF449427,AK001286,AL133655 BAD96714,AAN65380,AAN65381,AAH01107,AAH05039,AAH10074,AAH71575,O75494,Q53GD7,Q5JRI0,Q5JRI1,Q5JRI3,Q6IQ42,NP_006616,NP_473357,XP_001126406,XP_001126391,XP_001126417,XP_001126361,XP_001126375,AAL16666,CAI14803,CAI14804,CAI14805,CAI14806,CAI14807,CAI14808,AAL06098,AAL06099,EAW95103,EAW95104,EAW95105,EAW95106,EAW95107,AAC70918,AAC26727,AAL16665,AAL57514,BAA91601 Hs.3530,Hs.652334 GDB:9958265 FUSIP2|NSSR|SFRS13|SRp38|SRrp40|TASR|TASR1|TASR2 fus interacting protein (serine-arginine rich) 1 protein-coding 1350808 FUSIP1P FUS interacting protein (serine-arginine rich) 1 pseudogene 387613 1626567 FUSIP1P2 FUS interacting protein (serine/arginine-rich) 1 pseudogene 2 11891055 171472 NG_001017,AL031679 dJ836E8.1|pFUSIP1 pseudo 737372 FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. 1580863 2118655,11698403,18205178,18023290,17459061,16331565,15847661,15489334,15487706,15476160,15146197,12697902,12652076,12477932,12366770,9760178,9745152,9299444,9226185,9122901,9054453,7912436,7768954,7656588,1763885 2523 NM_000148,NG_007510,AB004859,AB004860,AB004861,AB004862,AB004863,AB006136,AC009002,AF455028,AJ276886,AY611628,AY780784,AY923051,CH471177,DQ092446,DQ321370,Z69587,BC074732,CN359119,D87935,D87936,D87937,D87938,D87939,D87940,D87941,M35531 NP_000139,BAA20556,BAA20557,BAA20558,BAA20559,BAA20560,BAA28952,AAL57863,CAC81751,AAT42242,AAV51818,AAW82437,EAW52399,AAY96648,ABC59307,CAA93435,AAH74732,AAA52639,O14504,O75029,P19526,Q4JGW8,Q5U805,Q6IZA2,Q6ZUW8,Q76N68,Q8IVN2,Q8WXB6 Hs.69747 GDB:120618 H|HH|HSC protein-coding 1354084 FUT10 fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 1580863 11698403,14702039,12477932,12370785 84750 NM_032664,AC067838,AC091144,CH471080,AJ431184,AJ512465,AJ535838,AJ535839,AJ582015,AK056199,AK098505,AK292993,BC004884,BC063462,CR596972 NP_116053,EAW63401,EAW63402,EAW63403,EAW63404,CAD24023,CAD54669,CAD59771,CAD59772,CAE46499,BAF85682,AAH04884,AAH63462,Q6P4F1 Hs.458713 GDB:11510553 MGC11141 protein-coding 735764 FUT11 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 14702039,12477932,11698403 170384 NM_173540,AC022400,CH471083,AK095482,BC036037,BC100994,BC100995,BC100996,BC100997 NP_775811,EAW54518,EAW54519,AAH36037,AAI00995,AAI00996,AAI00997,AAI00998,Q495W5,ABM85304,ABW03711 Hs.588854 MGC119338|MGC119339|MGC33202 alpha3-fucosyltransferase 11 protein-coding 735387 FUT2 fucosyltransferase 2 (secretor status included) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. 7876235,11698403,18422843,17805536,17760744,17655580,17537929,17054072,16514298,16344560,16306606,16168124,16008680,15809881,15757249,15487706,15476160,15338364,15250822,12692541,12673421,12645255,12477932,12164325,11916003,11806852,11777923,11606829,11535550,11323419,9760207,9745152,9299444,9219535,8755920,8621666,7876234,7656588,1763885 2524 BC121066,BE266792,BT006657,D87942,DA918525,NM_001097638,NG_007511,AB000931,AB032485,AB032486,AB034980,AC008888,AY817671,AY937240,CH471177,D87945,D89326,D89327,DQ321371,U17894,AK290277,AY751739,BC001899,NM_000511 AAH01899,AAI21067,AAP35303,BAA21684,Q0VAG5,Q0VAG6,Q10981,Q5XLR8,Q99450,Q9BUU7,NP_000502,NP_001091107,AAV65715,AAX14047,EAW52379,BAA13943,BAA13944,ABC59308,AAC24453,BAF82966,AAU47383 Hs.579928,Hs.655052 GDB:120619 SE|SEC2|Se2|sej protein-coding 1351938 FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. 1580863 1977660,18205178,17383304,17054072,16800951,16427187,16344560,16239964,16199102,16168124,16097066,16008680,15832169,15639866,15639865,15489334,15338364,15331092,14977360,14687237,12730721,12673421,12493760,12477932,12424536,12164325,12029441,11819805,11698403,11668626,11535550,10816554,10394050,10089211,9703429,9268337,8943285,8889548,8801770,8240337,8240322,8219240,8063716,7961897,7916594,7656588,7650030,1740457 2525 S52874,AF131913,AK291852,BC074836,BC074837,BC108675,BM671165,DA876997,DA930897,DB200655,U27326,U27327,U27328,X53578,NM_001097641,NM_000149,NM_001097639,NM_001097640,NG_007505,NG_007482,AB043998,AC024592,AY849570,AY870341,CH471139,D89324,D89325 AAD33514,BAF84541,AAH74836,BAA13942,AAH74837,AAI08676,AAC50185,AAC50186,AAC50187,CAA37641,P21217,Q9P1W6,NP_001091110,NP_000140,NP_001091108,NP_001091109,BAA96390,AAW34365,EAW69135,BAA13941 Hs.169238 GDB:135717 CD174|FT3B|FucT-III|LE|Les|MGC131739 protein-coding 1342617 FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) FUT4 catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). It has been detected in human embryos (5-10 weeks) suggesting a role in development. 1580863 11698403,1716630,18085638,17662271,17556010,17409497,16842926,15579466,15182935,12738675,12477932,11006292,9756916,9186069,8889548,8287679,8116567,7782074,7508745,3305706,1718983,1702034 2526 NM_002033,AP000943,CH471065,M65030,S65161,AA029661,AA029722,AF305083,BC041922,BQ232971,CA315021,CB123990,CB140063,H87118,M58596,M58597,R48692 NP_002024,EAW66938,AAA92977,AAB20349,AAA63172,AAA63173,P22083 Hs.390420,Hs.572064,Hs.623098 GDB:131563 CD15|ELFT|FCT3A|FUC-TIV protein-coding 1348340 FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 1580863 11698403,1339443,17148576,14601054,10622713,7782074,7650030,1740457 2527 NM_002034,AC024592,CH471139,M81485,AK291087,U27329,U27330 NP_002025,EAW69134,AAA98117,BAF83776,AAC50188,AAC50189,Q11128 Hs.631843 GDB:131644 FUC-TV protein-coding 1350852 FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. 1580863 11698403,17054948,16344560,14702039,14514715,12670495,12477932,11530205,10900002,10536043,9373149,8175676,8125298,7782074,7656588,7650030,1520296,1339443 2528 NM_000150,NG_007505,AC024592,CH471139,L01698,AF131211,AK098073,AK225795,BC061700,DA426469,DA622182,DA628976,M98825,NM_001040701,U27331,U27332,U27333,U27334,U27335,U27336,U27337 NP_001035791,NP_000141,EAW69136,EAW69137,EAW69138,EAW69139,AAB03078,AAD33509,AAH61700,AAA99222,AAC50190,AAC50191,AAC50192,AAC50193,AAC50194,AAC50195,AAC50196,P51993,Q6P7E6,Q9UND8 Hs.631846,Hs.705615 GDB:135180 FCT3A|FLJ40754|FT1A|FucT-VI protein-coding 1353646 FUT7 fucosyltransferase 7 (alpha (1,3) fucosyltransferase) The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. 1580863 11698403,8207002,17760744,17436081,17229154,16482509,15926890,15579466,15489334,15464988,15262995,15164053,12506041,12477932,11825883,11425803,11404359,9592127,9147044,8626519,8182079,8051184 2529 NM_004479,NG_007527,AB012668,AL807752,BC032357,BC074746,BC086312,U08112,U11282,X78031 NP_004470,BAA32819,CAI12771,AAH74746,AAH86312,AAA56869,AAA20468,CAA54962,Q11130 Hs.457 GDB:373982 FucT-VII protein-coding 1344316 FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase) This enzyme belongs to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternatively spliced variants encoding different isoforms have been identified. 1580863 11698403,9133635,17488527,16344263,14568171,14514715,12477932,12438718,11093814,10814706,10764839,10580126,10343104,9368041,9110174,8619474,2829950,2649653,2542563,2541446,2187500 2530 NM_178155,NM_178156,NM_178154,NM_004480,NM_178157,AB032573,BC142958,BQ962258,CR617923,D89289,Y17976,Y17977,Y17978,Y17979,AB049828,AF038280,AF038281,AL109847,AL161871,AL355840,AL359236,CH471061,AB049740,AF052088,AJ514324,AJ514325,AJ536053,AJ536054,AJ536055,AJ536056,AJ539535,AJ539536,AK292413,BC025385,BC093889,BC101816 NP_835368,NP_835369,NP_835367,NP_004471,NP_835370,BAA92858,BAA92859,AAI01817,AAI42959,BAA19764,CAA76985,CAA76986,CAA76987,CAA76988,Q546E0,Q8IUA5,Q9BYC5,BAB40975,AAB92372,EAW80911,EAW80912,EAW80913,EAW80914,EAW80915,EAW80916,EAW80917,BAB40929,CAD55804,CAD55805,CAD59924,CAD59925,CAD59926,CAD59927,CAD62444,CAD62445,BAF85102,AAH93889 Hs.654961 GDB:9786294 MGC26465 protein-coding 732098 FUT9 fucosyltransferase 9 (alpha (1,3) fucosyltransferase) FUT9 is one of several alpha-3-fucosyltransferases that can catalyze the last step in the biosynthesis of Lewis antigen, the addition of a fucose to precursor polysaccharides. FUT9 synthesizes the LeX oligosaccharide (CD15), which is expressed in organ buds progressing in mesenchyma during human embryogenesis.[supplied by OMIM] 1580863 11698403,10386598,16282604,15489334,14702039,14574404,12626397,12477932,12417923,12107078,11278338,10929005,10622713,10575236,8889548 10690 NM_006581,AL034348,AL139108,AL512406,AL512447,CH471051,AB023021,AJ238701,AK095046,AL080093,AL833558,AY800264,BC036101,CK299829,CK904220,CR593111 NP_006572,CAI14863,EAW48510,EAW48511,BAA81685,CAB41890,AAV67966,AAH36101,Q5Q0U2,Q9Y231,ABM85049 Hs.49117 GDB:9958145 Fuc-TIX protein-coding 1602203 FUZ fuzzy homolog (Drosophila) 16493421,16189514,12477932 80199 NM_025129,AC006942,CH471177,AK026341,AK057964,BC004445,BC010092,BC016793,CR592794,CR595499,CR607071,CR609003,CR613541,CR616619,CR621655 NP_079405,EAW52538,EAW52539,EAW52540,EAW52541,EAW52542,EAW52543,BAB15454,AAH04445,AAH10092,AAH16793,Q9BT04 Hs.288800 FLJ22688|FY protein-coding 736128 FXC1 fracture callus 1 homolog (rat) FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 1580863 9731230,16344560,15489334,14726512,14702039,12477932,11489896,10611480,10552927 26515 NM_012192,AC084337,CH471064,AF150105,AF152355,AF183415,AI052126,AK002130,AK058048,BC011014,CR595140,CR599487,CR607360,DA290694 NP_036324,EAW68706,AAD40011,AAF15105,AAG09684,AAH11014,Q9Y5J6 Hs.54943 GDB:11500784 TIM10B|TIMM10B|Tim9b protein-coding 1604403 FXN frataxin This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 9326946,8841185,9180083,9241270,18160053,18045804,18045775,17703324,17478498,17468497,17331979,17285345,17262846,17098208,16857735,16787388,16713569,16677095,16608849,16263703,16203742,16091420,15827563,15641778,15581888,15534367,15509595,15489334,15304363,15247478,15233994,15180699,15123683,14962663,12785837,12755598,12477932,12354789,12354077,12140189,12019217,11862710,11857753,11823441,11810294,11121205,11020385,10903947,10900192,10874325,10732799,10545606,10428860,10399865,9989622,9779809,9737785,9700204,9331900,9302253,9241271,9150176,8596916,7485155 2395 NM_181425,NM_000144,AF028240,AL162730,CH471089,U43752,U43753,U93173,U93174,U93175,Y13751,AI951739,BC023633,BC048097,U43747 NP_852090,NP_000135,AAB84047,CAH71829,EAW62473,EAW62474,AAA98508,AAA98509,AAD00734,AAD00735,AAD00736,CAA74077,AAH23633,AAH48097,AAA98510,O96034,Q16595 Hs.29978 CyaY|FA|FARR|FRDA|MGC57199|X25 protein-coding 1323342 FXR1 fragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. 1580863 7781595,9642279,10888599,9817930,17382880,17290396,17081983,16381901,16169070,15968590,15782174,15592455,15489336,15489334,12878157,12477932,11735223,11438699,11076863,10567518,10556305,10527928,10196376,9373149,9259278,8668200,8634689,8125298,7489725 8087 NM_001013439,NM_005087,NM_001013438,AC008009,CH471052,CQ834608,CQ834610,AK225334,AK292633,AU280585,AY341428,BC010382,BC028983,BQ016986,BX956500,CR596956,U25165,X90874 NP_001013457,NP_005078,NP_001013456,EAW78365,EAW78366,EAW78367,EAW78368,EAW78369,EAW78370,EAW78371,EAW78372,CAH05519,CAH05520,BAF85322,AAQ20045,AAH28983,AAC50155,CAA62382,P51114,Q0JU76,Q14341,CAL37935,CAL38042,CAL38373 Hs.478407 GDB:604562 protein-coding 1315950 FXR2 fragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. 1580863 7489725,16189514,17353931,9259278,17081983,16713569,15592455,15489334,15144186,12477932,11438699,10888599,10662545,10567518,10556305,10196376,9437788,8668200 9513 NM_004860,AC007421,AC016876,AF044263,CH471108,AK226082,BC020090,BC051907,BC067272,BT009817,U31501 NP_004851,AAC03357,EAW90154,EAW90155,AAH20090,AAH51907,AAH67272,AAP88819,AAC50292,P51116,Q86V09 Hs.52788 GDB:1313721 FMR1L2 protein-coding 734187 FXYD1 FXYD domain containing ion transport regulator 1 (phospholemman) This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. 68780,1580863 9169143,18052210,17309881,16921169,16288923,15489334,14597563,12535606,12477932,10950925,10811636,10087003,7999001,16189514 68780 5348 NM_021902,NM_005031,AC020907,AA524547,AK289811,BC032800,BM856555,CR617501,H57207,R46545,R72515,U72245 NP_068702,NP_005022,BAF82500,AAH32800,AAC51286,O00168,ABW03689,ABW03332 Hs.442498 GDB:5446155 MGC44983|PLM fxyd domain-containing ion transport regulator 1 protein-coding 1342669 FXYD2 FXYD domain containing ion transport regulator 2 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The Type III integral membrane protein encoded by this gene is the gamma subunit of the Na,K-ATPase present on the plasma membrane. Although the Na,K-ATPase does not depend on the gamma subunit to be functional, it is thought that the gamma subunit modulates the enzyme's activity by inducing ion channel activity. Mutations in this gene have been associated with renal hypomagnesaemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1598986,1580863 9048881,18000745,17316900,15489334,15252450,14702039,12907667,12477932,11832419,11112438,11062458,10950925,10559186,9915957,9600999,9463334,9405479,7916648,7566098 1598986 486 NM_021603,NM_001680,NM_001127489,AF241235,AF316896,AP000757,CH471065,AA309757,AA814197,AF241236,AK096069,BC005302,BC013289,BT006721,BX641053,DQ786191,U50743 NP_067614,NP_001671,NP_001120961,AAG34359,AAG34360,AAG37906,AAG37907,EAW67325,EAW67326,AAG34361,BAC04693,AAH05302,AAH13289,AAP35367,AAB09425,P54710,Q16668,Q8N8W8 Hs.413137 GDB:6185974 ATP1G1|HOMG2|MGC12372 protein-coding 1348403 FXYD3 FXYD domain containing ion transport regulator 3 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene may function as a chloride channel or as a chloride channel regulator. Two transcript variants encode two different isoforms of the protein; in addition, transcripts utilizing alternative polyA signals have been described in the literature. 1580863 7836447,17409496,17077088,16288923,16003754,15489334,14654946,12535606,12477932,10950925 5349 X93036,NM_021910,NM_005971,AC020907,BC005238,BC090044,BT006712,CR456945,CR542197,U28249 AAA73922,CAA63604,Q14802,NP_068710,NP_005962,AAH05238,AAH90044,AAP35358,CAG33226,CAG46994 Hs.301350 GDB:511025 MAT-8|MAT8|MGC111076|PLML protein-coding 735874 FXYD4 FXYD domain containing ion transport regulator 4 This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. 15489334,15164054,12975309,12763854,12535606,12477932,12217851,11483503,10950925 53828 AA759244,NM_173160,AL512654,CH471160,AI829935,AY358584,BC054876,BF507928,BG432244 NP_775183,CAI17065,EAW86592,EAW86593,EAW86594,AAQ88947,AAH54876,P59646 Hs.130497 GDB:10796334 CHIF fxyd domain-containing ion transport regulator 4 protein-coding 1605677 FXYD5 FXYD domain containing ion transport regulator 5 This reference sequence was derived from AF161462.1 and ESTs; validated by multiple replicate ESTs and human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, has not been characterized as a protein. Two transcript variants have been found for this gene, and they are both predicted to encode the same protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] 11756660,17442482,17437014,17084448,16333245,15751018,15619642,15489334,15466191,15459499,15102690,12975309,12970317,12477932,11342114,11042152,10950925,7566098 53827 BU178888,NM_144779,NM_014164,AC002390,AC020907,AA044211,AA296696,AB072911,AF161462,AF177940,AI424071,AY157582,AY358991,BC009642,BC013834,BC018798,BG025158,BQ183683,BT007343 Q8IWS1,Q96DB9,ABM92202,ABM84673,NP_659003,NP_054883,BAB83766,AAF29077,AAG09301,AAO13166,AAQ89350,AAH09642,AAP36007 Hs.333418 GDB:10796335 HSPC113|IWU-1|IWU1|KCT1|OIT2|PRO6241|RIC|dysad protein-coding 735925 FXYD6 FXYD domain containing ion transport regulator 6 This reference sequence was derived from multiple replicate ESTs and validated by human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD6, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] 1580863 11256614,18455306,17357072,16381901,16169070,15489336,15489334,14702039,12975309,12477932,11230166,11076863,10950925,7566098 53826 AP000757,CH471065,AK055389,AK092198,AK289629,AK290757,AL035858,AL136699,AL832811,AY358976,BC018652,BC093040,BT006717,CR533457,CR593024,CR597623,CR600841,CR603146,CR604290,NM_022003,CR604957,CR606899,CR608496,CR609230,CR611120,CR611517,CR614352,CR617323,CR618485,CR618856,CR623064,CR625268 NP_071286,EAW67327,EAW67328,EAW67329,EAW67330,EAW67331,EAW67332,EAW67333,EAW67334,EAW67335,EAW67336,EAW67337,BAF82318,BAF83446,CAB66634,CAI46171,AAQ89335,AAH18652,AAH93040,AAP35363,CAG38488,Q0JU18,Q9H0Q3,CAL37789,CAL37993,ABM92255,ABM84740 Hs.635508 GDB:10796336 fxyd domain-containing ion transport regulator 6 protein-coding 1349556 FXYD6P1 FXYD domain containing ion transport regulator 6, pseudogene 1 53825 GDB:10796337 1347597 FXYD6P2 FXYD domain containing ion transport regulator 6, pseudogene 2 53824 GDB:10796338 1344306 FXYD6P3 FXYD domain containing ion transport regulator 6, pseudogene 3 53823 GDB:10796339 732780 FXYD7 FXYD domain containing ion transport regulator 7 This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu.] 1580863 15489334,12477932,12093728,10950925,9447982,16189514 53822 NM_022006,AC020907,AI929519,AK057825,BC018619,CR596488,CR598444 NP_071289,AAH18619,P58549,ABM83415,ABM86626 Hs.134729 GDB:10796340 FLJ25096 protein-coding 1350598 FXYD8 FXYD domain containing ion transport regulator 8 406875 NM_001099278,AL353804 NP_001092748,CAI41451,P58550 Hs.699149 FXYD6P3 protein-coding 1603714 FYB FYN binding protein (FYB-120/130) 9207119,10747096,17785790,17511475,16980616,16831444,16503409,16461356,16020549,15849195,15843031,15144186,14702039,12477932,12458214,10942756,10856234,10570256,10502464,10497204,9755858,9748251,9671755,9115214,7504057 2533 CD691549,CD701507,U93049,NM_199335,NM_001465,AC008964,AC010633,AC025471,CH471119,AF001862,AF116653,AF198052,AI961953,AK123918,AK130159,AK290403,BC015933,BC017775,BC058827,BC117449,BX647195,BX647196 AAC51300,O15117,Q05DE9,Q9NZI9,Q9P1I1,NP_955367,NP_001456,EAW55981,EAW55982,EAW55983,EAW55984,EAW55985,AAB62226,AAF71073,AAF62400,BAF83092,AAH15933,AAI17450 Hs.370503 GDB:9836132 ADAP|PRO0823|SLAP-130 protein-coding 1319203 FYCO1 FYVE and coiled-coil domain containing 1 1580863 15489334,15342556,14702039,12477932,11896456 79443 BP249484,BX537863,CR595276,NM_024513,AC099782,CH471055,AA628466,AJ292348,AK023397,AK074165,AL832358,AL833308,BC007218,BC101468,BC101470 AAI01471,Q9BQS8,NP_078789,EAW64753,CAC33883,BAB14559,BAB84991,CAD91151,CAD89924,AAH07218,AAI01469 Hs.200227 GDB:11506059 DKFZp779K1152|FLJ13335|MGC126517|MGC126519|RUFY3|ZFYVE7 protein-coding 731929 FYN FYN oncogene related to SRC, FGR, YES This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. 1358600,1580863,1358602,1358593,704404 12237775,12218089,12181444,12096713,12089510,12084815,11994282,11983687,11943848,11943772,11839780,11826099,11820784,11806999,11777936,11744621,11741929,11739737,11711534,11684709,11677266,11598189,11594778,11546790,11536198,11526103,11483655,11466305,11423543,11356869,11353545,11298344,11278857,11239464,11204284,11162638,11158295,11121167,11087735,11075717,11024032,11005864,10945997,10921922,10896916,10872802,10871840,10867021,10858437,10816433,14993658,7822789,7722293,8264796,1361685,15611048,18267011,18174230,18056706,17943724,17703099,17701175,17599905,17417065,17334644,17192257,17130124,17129785,16891393,16888650,16882656,16860569,16782058,16777849,16713569,16597701,16503409,16237174,16115884,16014719,15925565,15872086,15713745,15708437,15588985,15557120,15537652,15536091,15514010,15489334,15345598,15345594,15206927,15190072,15175272,15144186,15098360,15082191,14999081,14980517,14761972,14761954,14757743,14702039,14675807,14662334,14647465,14574404,14517306,14506255,12932824,12917446,12857875,12846735,12835311,12788081,12730241,12697812,12695509,12670706,12668668,12640114,12589038,12545174,12538589,12529448,12526739,12524444,12509223,12496362,12477932,12471123,12458214,12450793,12426371,12419528,12408980,12374739,12372285,12370810,12368035,9799234,9763511,9756930,9741627,9712716,9710204,9687533,9677430,9674711,9648856,9603925,9576921,9573028,9553134,9535867,9535845,9531288,9507006,9446569,9425276,9417082,9368621,9366405,9360983,9351806,9207119,9196040,9195918,9195899,9188452,9185665,9121430,9118959,9104812,9091579,9079653,9060467,9047237,9045636,9038134,8995379,8980254,8961927,8910336,8810341,8805554,8805332,8798684,8760790,8756631,8681387,8655574,8631859,8626376,8621719,8621384,8566014,8483935,8395016,8394019,8262983,8104794,7929439,7760813,7687536,7682059,7681396,7664083,7595520,7589480,7589101,7589084,7565724,7545683,7537495,7525550,7521304,7517401,7516469,7515933,7504057,3526330,3330788,3099169,1985196,1717997,1715582,1699196,1696179,1544885,1530920,1454062,1446976,1387715,1385527,1351058,1334406,8671590,10804218,10799548,10790433,10764799,10744724,10733577,10708762,10591186,10586033,10570256,10564280,10551884,10532312,10498895,10482988,10458595,10447714,10435619,10383400,10339567,10224664,10212213,10209036,10196263,10092522,10089404,10022833,9973379,9890970,9856337,9837978,9837776,9822663,9804857,7859737,11483358,16189514,8294442,15494732,10571082,9344703,9269777,9043947,8883579,16454711,10642173,7588629,9778343,9351809,15638726,15078178,14965316,10544125 1358600,1358602,1358593 2534 NM_002037,NM_153048,NM_153047,AL109916,AL158035,CH471051,Z97989,AK056699,BC032496,M14333,M14676,S74774 NP_002028,NP_694593,NP_694592,EAW48278,EAW48279,EAW48280,EAW48281,EAW48282,EAW48283,EAW48284,CAI22299,CAI22300,CAI22301,AAH32496,AAC08285,AAA36615,AAB33113,P06241,Q5R3A8 Hs.390567 GDB:118797 MGC45350|SLK|SYN protein-coding 1345293 FYTTD1 forty-two-three domain containing 1 737633 16381901,15862967,15489336,12477932,11230166,11076863 737633 84248 NM_001011537,NM_032288,AC024560,AC055764,CH471252,AJ344094,AK027672,AL136558,BC013602,BC035006,BC039734,BX509179,CR533502 NP_001011537,NP_115664,EAW92240,EAW92241,CAC51432,BAB55284,CAB66493,AAH35006,AAH39734,CAG38533,Q96QD9,CAL37931 Hs.277533 DKFZp761B1514 protein-coding 736261 FZD1 frizzled homolog 1 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. 1580863,2293491 17496152,16442268,15489334,15370539,15252441,14739301,12853948,12690205,12477932,12067714,12012019,10557084,9813155,9707618 2293491 8321 NM_003505,AC084381,CH236949,CH471091,AB017363,AF072872,AL049994,BC017719,BC051271,CR597493 NP_003496,AAS02008,EAL24161,EAW76871,BAA34666,AAD41636,AAH51271,Q9UP38 Hs.94234 GDB:9864851 DKFZp564G072 protein-coding 1347205 FZD10 frizzled homolog 10 (Drosophila) This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. 1580863,2293491 10448064,15489334,15370539,12477932,11786918,11597177,9707618,9192640 2293491 11211 AC026336,CH471054,AB027464,AI697875,AL556202,BC070037,BC074997,BC074998,CR606242,NM_007197 EAW98507,BAA84093,AAH70037,AAH74997,AAH74998,Q6NSL8,Q9ULW2,NP_009128 Hs.31664 GDB:9957409 CD350|FZ-10|FzE7|hFz10 protein-coding 732091 FZD2 frizzled homolog 2 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The expression of the FZD2 gene appears to be developmentally regulated, with high levels of expression in fetal kidney and lung and in adult colon and ovary. 1580863 8626800,18215320,15489334,15370539,12839624,12477932,12067714,9813155,9707618,9192640,7558010 2535 NM_001466,AC103703,CH471178,AB017364,BC036881,BC052266,BC113402,BC113404,L37882 NP_001457,EAW51591,BAA34667,AAH52266,AAI13403,AAI13405,AAB46397,Q14332,Q86UZ8 Hs.142912 GDB:597641 protein-coding 732935 FZD3 frizzled homolog 3 (Drosophila) This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. 704404,1582654,1582650,1582649,1582651,1580863,2293492 10777673,10491302,18212053,17982906,16707163,15657645,15370539,15364045,15340161,15274031,14642436,12477932,12011974,11407985,10873558,9192640 1582654,1582650,1582649,1582651,2293492 7976 NM_017412,AC011132,CH471080,AB039723,AJ272427,AK291480,AY005130,BC034278 NP_059108,EAW63511,BAA94968,CAB89114,BAF84169,AAF89088,Q9NPG1,AAI56294 Hs.40735 GDB:9958833 Fz-3|hFz3 protein-coding 736680 FZD4 frizzled homolog 4 (Drosophila) This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. 1598999,1580863 10544037,18156211,17386109,17093393,15981244,15489334,15488808,15370539,15223780,15195140,15024691,14737064,12958364,12477932,12172548,12067714,12044878,11401527,9707618,1598965 1598999 8322 NM_012193,AB083613,AP001528,CH471076,AB032417,AB054881,AK025516,AK025791,AK292768,AY462097,BC025750,BC114527,BC114622 NP_036325,BAB89326,EAW75147,BAA86286,BAB40811,BAF85457,AAR23924,AAI14528,AAI14623,Q8TDT8,Q9BY80,Q9ULV1 Hs.591968 GDB:9864853 CD344|EVR1|FEVR|FZD4S|Fz-4|FzE4|GPCR|MGC34390 protein-coding 1345907 FZD5 frizzled homolog 5 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD5 protein is believed to be the receptor for the Wnt5A ligand. 1580863 9054360,8626800,18230341,18077588,17273778,16890161,16601243,15815621,15694380,15370539,15338479,12477932,11520064,11408929,11230166,11029007,9707618,9192640 7855 AC096772,NM_003468,CH471063,AB043702,AK000125,AK024850,AL136852,BC035962,BC048322,BC058895,BC095474,BC114346,BF059357,CR533442,CR594249,U43318 AAY24057,AAY24058,NP_003459,EAW70426,BAB60959,CAB66786,CAG38473,AAC50385,Q13467,Q29R77,AAI56525 Hs.17631 GDB:6276668 C2orf31|DKFZP434E2135|HFZ5|MGC129692 protein-coding 1343855 FZD6 frizzled homolog 6 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD6 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, and 7 transmembrane domains. However, unlike many other Fz family members, FDZ6 does not contain a C-terminal PDZ domain-binding motif. 1580863,2293492 9480858,17516841,16344560,15489334,15370539,14747478,12477932,10347172,9192640,8626800 2293492 8323 AB012911,AF072873,AU130184,BC036106,BC060836,BX640609,CD652975,CR623773,NM_003506,AB065702,AC025370,AF363578,CH471060,CQ834498 BAA25686,AAD41637,AAH60836,CAE45715,O60353,Q6N0A5,Q8WXR9,NP_003497,BAC05925,AAL50384,EAW91867,EAW91868,EAW91869,EAW91870,EAW91871,EAW91872,EAW91873,CAH05464 Hs.591863 GDB:9864854 Hfz6 protein-coding 1314691 FZD7 frizzled homolog 7 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif. FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. 1580863,2292645 9707618,18156211,17716656,17016432,16713569,16189514,15901282,15489334,15370539,15195140,12477932,12067714,9813155,9192640 2292645 8324 NM_003507,AC069148,CH471063,AB010881,AB017365,BC015915 NP_003498,AAX93250,EAW70298,BAA32424,BAA34668,AAH15915,O75084,Q53S59 Hs.173859 GDB:9864856 FzE3 protein-coding 1350514 FZD8 frizzled homolog 8 (Drosophila) This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This gene is highly expressed in two human cancer cell lines, indicating that it may play a role in several types of cancer. The crystal structure of the extracellular cysteine-rich domain of a similar mouse protein has been determined. 1580863 11295046,15164054,12477932,11520064,11452312,11448771,11076863,11029007,9192640,8626800,15454084,15370539 8325 NM_031866,AL121749,CH471072,AB043703,AF086500,CR590011 NP_114072,CAC10185,EAW85909,BAB41064,Q9H461,AAI11846 Hs.302634 GDB:9864883 FZ-8|hFZ8 protein-coding 734067 FZD9 frizzled homolog 9 (Drosophila) Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype. FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. 1580863,2292645 9147651,16835228,16189514,15705594,15370539,12853948,12477932,12138115,10198163,9707618,9192640,914765 2292645 8326 NM_003508,AC005049,CH471200,BC026333,U82169 NP_003499,AAQ93359,EAW69682,AAH26333,AAC51174,O00144,Q8TAN2,ABM84300,ABM87695 Hs.647029 GDB:6054087 CD349|FZD3 protein-coding 1318646 FZR1 fizzy/cell division cycle 20 related 1 (Drosophila) 9734353,11988738,15029244,12791267,10793135,11598127,15469984,10548110,11340163,11931757,18381934,18174259,17339342,17283060,17215516,15489334,15057824,15014503,12797865,12560341,12477932,12198152,11691834,11003657,10574462,10500174,10459014,9811605,12956947,16189514,15916961,15144564 51343 NM_016263,AC005786,AC005787,CH471139,AB013462,AB013463,AB033068,AF080397,AF083810,AF102507,AF102508,AF433157,BC013413,BC111760,BT007115 NP_057347,AAC62836,AAC62835,EAW69313,EAW69314,EAW69315,BAA86954,BAA86955,BAA86556,AAF20266,AAD52030,AAD26623,AAD26624,AAL28117,AAH13413,AAP35779,Q9UM11,ABM81665 Hs.413133 GDB:9957426 CDC20C|CDH1|FZR|FZR2|HCDH|HCDH1|KIAA1242 protein-coding 1604363 G0S2 G0/G1switch 2 16710414,16341674,16086669,15489334,12477932,10645953,9428793,1930693 50486 NM_015714,AL031316,CH471100,M69199,M72885,AV709160,BC009694,BM788126,BT007101,CR542179,CR542193 P27469,Q6FGC8,ABM85536,ABW03730,NP_056529,CAB40150,EAW93447,AAB04044,AAA58966,AAH09694,AAP35765,CAG46976,CAG46990 Hs.432132 RP1-28O10.2 protein-coding 1604397 G3BP1 GTPase activating protein (SH3 domain) binding protein 1 This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. 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. 9889278,8649363,17696235,17297477,17210633,17081983,16996479,16565220,16094384,15782174,15602692,15489334,15471883,15302935,15144186,14702039,12642610,12477932,11888885,11604510,11439350,10404389,9632780,9373149,8125298,1461655,17353931,16189514 10146 BX647869,BU517281,BX648012,CR536535,CR601908,CR614415,CR625819,U32519,X78262,NM_005754,NM_198395,AC091982,CH471062,CQ834172,AK091592,AK130003,AK222606,BC006997,BC108278,BG703413,BT019384 AAV38191,CAI46065,CAI46067,CAG38772,AAB07787,Q13283,Q32P45,Q53HH4,Q5HYE9,Q5U0Q1,Q6FI03,Q6ZP53,ABM83984,ABM87307,NP_005745,NP_938405,EAW61659,EAW61660,EAW61661,EAW61662,CAH05301,BAC85272,BAD96326,AAH06997,AAI08279 Hs.587054 G3BP|HDH-VIII|MGC111040 protein-coding 1602228 G3BP2 GTPase activating protein (SH3 domain) binding protein 2 17353931,10969074,9575347,17297477,17081983,15782174,15489334,15345747,12477932,9734811,9110174,8619474,16189514 9908 NM_203504,NM_203505,NM_012297,AC104828,CH471057,AA781267,AB014560,AF051311,AF053535,AF070615,AF145284,AK291786,BC011731,BI560692,CB996973,CD706717 NP_987100,NP_987101,NP_036429,EAX05742,EAX05743,EAX05744,EAX05745,EAX05746,EAX05747,EAX05748,BAA31635,AAC15705,AAC95292,AAD51932,BAF84475,AAH11731,Q9UN86 Hs.303676 protein-coding 736011 G6PC glucose-6-phosphatase, catalytic subunit Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate. It is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Defects in the enzyme cause glycogen storage disease type I (von Gierke disease). 1582633,704404,728661,1580863,1300048 7573034,15661744,18008183,17354259,16893891,16892178,15918042,15316959,14759518,14718531,13129915,12560945,12556524,12477932,12444104,12373566,12189168,12093795,11739393,11672436,10960498,10748407,10612834,10452914,10447271,10094563,10026167,10024523,10023055,9705299,9675154,9428641,9332655,9001800,8733042,8640227,8612793,8211187,8182131,7774924,7668282,7623438,2986020,2547044,2172641,212064,175958,7655466 1582633,728661 2538 NM_000151,AC016889,AF051355,CH471152,X96937,BC130478,BC136369,U01120 NP_000142,AAD11621,EAW60901,EAW60902,CAA65638,AAI30479,AAI36370,AAA16222,O95179,P35575,Q6LAP7 Hs.212293 GDB:231927 G6PT|GSD1|GSD1a|MGC163350 protein-coding 1344189 G6PC2 glucose-6-phosphatase, catalytic, 2 This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. 18451265,17607665,17376840,16520917,16493034,16012821,15044018,14722102,12815107,12477932,11297555,10078554,10078553 57818 CH471058,BC104778,BC113376,BQ268961,CA865646,CR627438,NM_021176,NM_001081686,AC069137,AF283575,AF283835 AAF82810,EAX11291,AAI04779,AAI13377,CAH10524,Q9NQR9,NP_066999,NP_001075155,AAY24099 Hs.283963 IGRP|MGC141936 protein-coding 735418 G6PC3 glucose 6 phosphatase, catalytic, 3 Glucose-6-phosphatase (G6Pase) is located in the endoplasmic reticulum (ER) and catalyzes hydrolysis of G6P to glucose and phosphate, the last step of the gluconeogenic and glycogenolytic pathways. G6PC3 is a ubiquitously expressed G6Pase catalytic subunit (Martin et al., 2002 [PubMed 12370122]; Guionie et al., 2003 [PubMed 12965222]).[supplied by OMIM] 737633,1302399 12965222,12477932,12370122 737633,1302399 92579 NM_138387,AC023855,CH471178,BC002494,BC021574,BC062596,BM790097,CR590248,CR590923,CR591259,CR595523,CR597546,CR598130,CR598996,CR601615,CR605360,CR607017,CR607320,CR608514,CR608544,CR609384,CR613351,CR615676,CR617855,CR619652,CR622205,CR623861,CR624359,CR625794 NP_612396,EAW51636,EAW51637,EAW51638,AAH02494,AAH21574,Q9BUM1 Hs.294005 UGRP protein-coding 736474 G6PD glucose-6-phosphate dehydrogenase This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. 1599574,704404,1599812,1300048,1580863,1625539 11876979,11874436,11857737,11852882,11793482,11499668,11440553,11237690,11112389,11042039,11024211,10745013,10698963,10627140,10089300,10087986,9233561,8826878,8733135,8533762,8490627,8364584,8356804,8193373,7959695,7858267,7857286,7825590,6696761,3515319,3446582,3393536,3126064,3012556,2912069,2910917,2758468,2428611,1945893,1889820,1874446,1611091,1536798,1303182,1303180,16189514,17653668,17611006,17587269,17557555,17524386,17499234,17264545,17077204,17018380,17007653,16944148,16934959,16927025,16859949,16792831,16637741,16607506,16569302,16532971,16483869,16461316,16356170,16331553,16272653,16236267,16155737,16143877,16137669,16136268,16088936,16059744,16020776,15957246,15951569,15914531,15906719,15906717,15864125,15772651,15766741,15748456,15727905,15718915,15659240,15598086,15592455,15558953,15506519,15489334,15466166,15330559,15315792,15307413,15282679,15223006,14757426,14757424,14614139,12972027,12921788,12850494,12768444,12737943,12737940,12737938,12696079,12680285,12665801,12641410,12616531,12588050,12524354,12497642,12477932,12439228,12380870,12378426,12135480,12130518,11920200,11877026,5666113,8466644,2836867,11256614,18458302,18376107,18302154,18215251,18173836,18164966,18046504,18043863,17959407,17660836 1599574,1599812,1625539 2539 NM_001042351,NM_000402,AF277315,AY158096,AY158097,AY158098,AY158099,AY158100,AY158101,AY158102,AY158103,AY158104,AY158105,AY158106,AY158107,AY158108,AY158109,AY158110,AY158111,AY158112,AY158113,AY158114,AY158115,AY158116,AY158117,AY158118,AY158119,AY158120,AY158121,AY158122,AY158123,AY158125,AY158126,AY158127,AY158128,AY158129,AY158130,AY158131,AY158132,AY158133,AY158134,AY158135,AY158136,AY158137,AY158138,AY158139,AY158140,AY158141,AY158142,CH471172,AY158124,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,DQ832766,M23423,M65234,S64462,X53815,X55448,AK292304,AL560686,BC000337,CR606589,CR624380,M19866,M21248,M27940,S58359,X03674,L44140,DQ173568,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173597,DQ173598,DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,DQ173614,DQ173615,DQ173616 NP_001035810,NP_000393,AAL27011,AAN76367,AAN76368,AAN76369,AAN76370,AAN76371,AAN76372,AAN76373,AAN76374,AAN76375,AAN76376,AAN76377,AAN76378,AAN76379,AAN76380,AAN76381,AAN76382,AAN76383,AAN76384,AAN76385,AAN76386,AAN76387,AAN76388,AAN76389,AAN76390,AAN76391,AAN76392,AAN76393,AAN76394,AAN76395,AAN76396,AAN76397,AAN76398,AAN76399,AAN76400,AAN76401,AAN76402,AAN76403,AAN76404,AAN76405,AAN76406,AAN76407,AAN76408,AAN76409,AAN76410,AAN76411,AAN76412,AAN76413,EAW72682,EAW72683,EAW72684,EAW72685,ABC25851,ABC25856,ABC25861,ABC25866,ABC25871,ABC25876,ABC25881,ABC25886,ABC25891,ABC25896,ABC25901,ABC25906,ABC25911,ABC25916,ABC25921,ABC25926,ABC25931,ABC25936,ABC25941,ABC25946,ABC25951,ABC25956,ABC25961,ABC25966,ABC25971,ABC25976,ABC25981,ABH03569,AAA92653,AAB59390,AAA63175,AAB20299,CAA37811,CAA39089,BAF84993,AAH00337,AAA52501,AAA52500,AAA52504,AAB26169,CAA27309,P11413,Q0PHS1,Q2Q9B7,Q2Q9H2,Q2VF42,ABM83145,ABM86341,EAW72686,EAW72687,ABB90566,ABC25732,ABC25737,ABC25742,ABC25747,ABC25752,ABC25757,ABC25761,ABC25766,ABC25771,ABC25776,ABC25781,ABC25786,ABC25791,ABC25796,ABC25801,ABC25806,ABC25811,ABC25816,ABC25821,ABC25826,ABC25831,ABC25836,ABC25841,ABC25846 Hs.461047,Hs.684904 GDB:120621 G6PD1 protein-coding 1346544 G6PDL glucose-6-phosphate dehydrogenase-like 3752086 2540 GDB:119243 1347726 G6PR glucose-6-phosphatase regulator 2541 GDB:9862965 1348449 G6PT2 glucose-6-phosphatase, transport (phosphate/pyrophosphate) protein 2 9598717 2544 GDB:9862967 1352161 G6PT3 glucose-6-phosphatase, transport (glucose) protein 3 2545 GDB:9862968 1353103 G7P1 kinase-like protein 2546 GDB:119964 1353184 GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. 1580863 2283726,2136376,2076345,10737124,10338092,10206684,10189220,9660056,9554747,9535769,9521422,8935410,8912788,8834250,8786092,8558570,8486380,8435067,8401535,8094613,7981676,7945303,7881425,7881422,7866409,7695647,7603530,3049072,2268276,2203258,2111708,1898413,1856189,1684505,1652892,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,11752220,8794362,8794361,8416962,2959866,16547752,12719582,8218172,2355006,9505277,10931430,16917947,7717400,18458862,18285536,17915575,17616415,17592248,17293352,17213836,17210890,17092519,17056254,16782080,16433701,16335952,15993875,15668445,15520017,15489334,15313146,15145338,14695532,12923862,12754519,12601120,12477932,12065598,11973631,11854868,11738358,11071489,11027569 2548 NM_000152,NM_001079803,NM_001079804,AC087741,CH471099,M34425,X55079,X55080,AW515241,BC015908,BC040431,BQ711289,CR602301,CR617840,DQ907243,M34424,S76893,Y00839 NP_000143,NP_001073271,NP_001073272,EAW89581,EAW89582,EAW89583,CAC12967,AAH15908,AAH40431,ABI53718,AAA52506,AAB33842,CAA68763,CAA68764,P10253,Q96B79 Hs.1437 GDB:119965 LYAG protein-coding 1322354 GAB1 GRB2-associated binding protein 1 The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. The encoded protein is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. 1642762 8596638,9658397,9356464,10648629,10734310,10913131,11606067,14560030,14665621,15574420,18192688,18003605,17625596,17211494,17178724,17145761,16849525,16787925,16687399,15952937,15940252,15815621,15665327,15489334,15379552,15351743,15010462,14702039,14701753,12855672,12808090,12766170,12522270,12486104,12477932,12138161,12065326,11960376,11940581,11896055,11707404,11701952,11507676,11432805,11360177,11323411,11314042,11278704,11134009,10995442,10978177,10753869,10747014,10068651,10022866,9890893,9878555,12370245,9252406,9242692,12748184,12819203,12582165,11894096 1642762 2549 NM_207123,NM_002039,AC097658,AC104685,CH471056,DQ021880,AK022142,AK074381,AK289767,BC064848,U43885 NP_997006,NP_002030,AAY40964,EAX05072,EAX05073,AAY26398,BAB13970,BAB85065,BAF82456,AAH64848,AAC50380,Q13480,Q8TE87,Q9HA84 Hs.80720,Hs.618456 GDB:5302683 protein-coding 737428 GAB2 GRB2-associated binding protein 2 This gene is a member of the GRB2-associated binding protein (GAB) gene family and is similar to the GAB1 gene. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. 704404 18314909,18272374,18235045,17998934,17553421,16736498,16369543,16253990,15952937,15750601,15356145,15010462,14687710,12819203,12522270,12477932,12140767,12135708,12008033,11997510,11971018,11895767,11882361,11830491,11812650,11782427,11701952,11572860,11466412,11402314,11334882,11287610,11043767,10752981,10704825,10455108,10391903,10068651,9628581,15143164,15574337 9846 NM_080491,NM_012296,AP002985,AP003086,CH471076,AA865573,AB011143,AB018413,BC131711,BC152459,CR600944 NP_536739,NP_036428,EAW75057,EAW75058,BAA25497,BAA76737,AAI31712,AAI52460,Q9UQC2 Hs.429434 GDB:9958315 KIAA0571 1643405 BMD9_H protein-coding 1353554 GAB3 GRB2-associated binding protein 3 This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Two transcript variants encoding different isoforms have been found for this gene. 12640125,11997510,11943184,11739737 139716 NM_001081573,NM_080612,AC107450,AC109993,CH471172,AI799102,AK126283,AL832051,AY057989,BQ574803,CN481476 NP_001075042,NP_542179,EAW72664,EAW72665,EAW72666,EAW72667,AAL25825,Q8WWW8,AAI41540 Hs.496982 GDB:11506061 protein-coding 1350229 GAB4 GRB2-associated binding protein family, member 4 14702039 128954 NM_001037814,AC006548,CH471193,AB076978,AK057252 NP_001032903,EAW57735,BAD06454,Q2WGN9 Hs.434113 protein-coding 736805 GABARAP GABA(A) receptor-associated protein Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. 1580863,1643329 9892355,11146101,17581966,17164261,16874098,16339017,16303767,16169070,15977068,15695379,14625090,12507496,12477932,12367594,11997026,11979730,11948245,11890701,11885988,11875056,11825910,11779480,11729197,11727986,11727985,11461150,11414770,11042152,10984509,10931946,10900017,10899939,10856287,17353931 1643329 11337 NM_007278,AC120057,CH471108,AB030711,AF044671,AF067171,AF161586,AF183425,AK098634,BC106748,BC106749,CR457043,CR542235,CR592433,CR597728,CR624246,U65413 NP_009209,EAW90234,EAW90238,BAB21549,AAD02337,AAD32455,AAD47641,AAG09694,AAI06749,AAI06750,CAG33324,CAG47031,O95166,Q6IAW1 Hs.647421 GDB:9958007 FLJ25768|MGC120154|MGC120155|MM46 gamma-aminobutyric acid receptor associated protein protein-coding 1317596 GABARAPL1 GABA(A) receptor-associated protein like 1 1300523,1580863 9892355,15292400,11256614,16704426,16431922,16381901,16189514,15489336,15489334,14702039,14625090,12477932,11414770,11374880,11230166,11076863,8495796 1300523 23710 AC115676,CH471094,AF087847,AF287012,AK056846,AK074195,AK092075,AK124150,AL136676,NM_031412,BC008891,BC009309,BC028315,BX648781,CR533480,CR591381,CR593137,CR595003,CR598360,CR599698,CR602506,CR602628,CR605097,CR605544,CR610376,CR611326,CR612549,CR615029,CR616129,CR616417,CR618651,CR618974,CR619385,CR619810,CR619851,CR620458,CR621758,CR622237,CR622348,CR622808,CR623363,CR623491,CR624563,CR626218,CR626234 NP_113600,EAW96164,EAW96165,EAW96166,EAW96167,EAW96168,EAW96169,EAW96170,AAK20399,AAK55962,CAB66611,AAH09309,AAH28315,CAG38511,Q6FIE6,Q9H0R8,CAL38063,CAL38067,ABM84029,ABM87374 Hs.524250 GDB:10794885 APG8-LIKE|APG8L|ATG8|ATG8L|GEC1 protein-coding 735450 GABARAPL2 GABA(A) receptor-associated protein-like 2 1300523,1643329 10406962,11146101,11256614,16381901,16303767,16189514,15489336,15489334,12477932,12473658,11890701,11414770,11076863,10747018,17353931 1300523,1643329 11345 NM_007285,AC025287,CH471114,AB030710,AF077046,AF087848,AJ010569,AK289788,BC005985,BC014594,BC029601,BC040312,CR542217,CR592344,CR603478,CR621062,CR624907 NP_009216,EAW95629,EAW95630,BAB21548,AAD27779,AAK20400,CAA09249,BAF82477,AAH05985,AAH14594,AAH29601,CAG47013,P60520,Q6FG91,CAL38202,ABM84027,ABM87372 Hs.461379 GDB:11508611 ATG8|GATE-16|GATE16|GEF-2|GEF2 gaba(a) receptor-associated protein like 2 protein-coding 1354441 GABARAPL3 GABA(A) receptors associated protein like 3 (pseudogene) 1300523,1580863 11414770 1300523 23766 NG_005645,AC018946,AF180519 AAK16237,Q9BY60 Hs.592014 GDB:10795311 pseudo 734108 GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates 4 transcript variants. 1580863 9069281,9753614,18255321,18098271,17971048,17591780,17412563,17264536,16829628,16499773,16344560,16176975,15946333,15863499,15857448,15820424,15799783,15759131,15685626,15489334,15482257,15474078,15309313,15304491,14978362,14966130,14961561,14759258,14718537,14707142,14643764,14625043,14574404,12923192,12770685,12645817,12601092,12555235,12477932,12130687,12115687,11844143,11178869,11140838,11087824,10906333,10773016,10587080,10402495,10075644,9933300,9889352,9872744,9872316,9844003,9798068,9373149,8125298,7927650,15660124 2550 CR388210,CR759766,CR759870,CR788300,CR936483,CS059177,AB208790,AF099148,AF301005,NM_021904,NM_021905,NM_001470,NM_021903,AB065476,AJ010170,AJ010191,AL645936,AL662826,BX000688,CH471081,AJ012185,AJ012186,AJ012187,AJ012288,AJ225028,AJ225029,AK223619,AK290191,AK312308,BC023336,BC041332,BC042598,BC050532,DA112662,DA400111,Y11044 EAX03207,EAX03208,EAX03209,EAX03210,EAX03211,EAX03212,CAQ09394,CAQ06608,CAQ06609,CAQ06610,CAQ09877,CAQ09878,CAQ09879,CAQ07761,CAQ07763,CAQ07764,CAQ10081,CAQ10082,CAQ10083,CAI79356,BAD92027,AAC98508,AAG23962,EAX03206,NP_068704,NP_068705,NP_001461,NP_068703,BAC05730,CAA09031,CAI18015,CAI18016,CAI18017,CAI17389,CAI17390,CAI17391,CAI18604,CAI18605,CAI18606,EAX03205,CAA09939,CAA09940,CAA09941,CAA09980,CAA12359,CAA12360,BAD97339,BAF82880,BAG35233,AAH41332,AAH42598,AAH50532,Q53EM0,Q59HG8,Q5RJ89,Q5STL4,Q5SUJ8,Q5SUJ9,Q5SUL2,Q5SUL3,Q71SG6,Q8IW08,Q8NHA5,Q9UBS5 Hs.167017 GDB:9836108 FLJ92613|GABAB(1e)|GABABR1|GABBR1-3|GPRC3A|dJ271M21.1.1|dJ271M21.1.2|hGB1a protein-coding 731754 GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2 B-type receptors for the neurotransmitter GABA (gamma-aminobutyric acid) inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters and the activity of ion channels and adenylyl cyclase. See GABBR1 (MIM 603540) for additional background information on GABA-B receptors.[supplied by OMIM] 1580863 10328880,9872316,18482426,17145756,16829628,15822905,15489334,15164053,14978362,14966130,14961561,14625043,12477932,11850456,11087824,10773016,10727622,10087195,10075644,16189514,15660124,11854302 9568 NM_005458,AL353782,AL356282,AL445495,AL591502,CH471105,CS059179,AB015334,AF056085,AF069755,AF074483,AF095784,AF099033,AJ012188,BC031317,BC035071,BC055425 NP_005449,CAH71298,EAW58889,EAW58890,EAW58891,CAI79357,BAA34793,AAC63228,AAC99345,AAD03336,AAD30389,AAD45867,CAA09942,AAH35071,O75899,O94794,ABM82657,ABM85834 Hs.198612 GDB:9957366 FLJ36928|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099 g protein-coupled receptor 51 protein-coding 1321915 GABPA GA binding protein transcription factor, alpha subunit 60kDa This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. 1580863 8441384,10675337,7590737,18020712,17357964,17304221,17161026,16581781,16574658,15928042,15361867,12477932,12107413,11237613,10830953,10660899,10585419,9990060,9792629,9461436,9373149,8543189,8125298,7799916,7737900,15358217,9016666 2551 NM_002040,AP000087,AP000139,AP000226,CH471079,AI917898,AK223164,BC035031,BG542623,BX117934,BX647755,CB132898,CD674081,CV575645,D13318,EU159453,U13044 NP_002031,EAX09967,EAX09968,EAX09969,BAD96884,AAH35031,BAA02575,ABV90873,AAA65706,Q06546,Q8IYS3,ABZ92005 Hs.246310,Hs.473470 GDB:138476 E4TF1-60|E4TF1A|NFT2|NRF2|NRF2A protein-coding 1605717 GABPAP GA binding protein transcription factor, alpha subunit pseudogene 10393246,9373149,8441384,8125298,7958862,7737900 8327 NR_002723,NG_007342,AC092634,AF078104 GDB:9864884 E4TF1|E4TF1B|GABPB1 pseudo 1321019 GABPB2 GA binding protein transcription factor, beta subunit 2 This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 10675337,8441384,9016666,18020712,17726090,17357964,16713569,16412436,16189514,12477932,12016589,11953439,10585419,9792629,9461436,9242441,8816484,8383622,7958862,7799916,7737900 2553 NM_005254,NM_016654,NM_002041,NM_016655,NM_181427,AC022087,CH471082,AI631183,BC004103,BC014238,BC016910,BC036080,BC050702,BE644609,BQ430343,BQ573816,BT006652,CB960428,CR591958,D13316,D13317,EU159454,U13045,U13046,U13047,U13048 NP_005245,NP_057738,NP_002032,NP_057739,NP_852092,EAW77388,EAW77389,EAW77390,EAW77391,EAW77392,EAW77393,EAW77394,EAW77395,AAH16910,AAH36080,AAH50702,AAP35298,BAA02573,BAA02574,ABV90874,AAA65707,AAA65708,AAA65709,AAA65710,Q06547,ABM85058,ABZ92036 Hs.654350,Hs.659360 GDB:269893 BABPB2|E4TF1|E4TF1-47|E4TF1-53|E4TF1B|GABPB|GABPB1|NRF2B1|NRF2B2 protein-coding 730902 GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. 1580863,704404 2465923,18292428,18197653,17972043,17880575,17670950,17440936,17360668,17011586,16839746,16792556,16778401,16770606,16627470,16569738,16530959,16412095,16344560,16294320,16172613,16123039,16029191,15955415,15542698,15489334,15201329,15196679,15033447,15016806,14996540,14961561,14706423,14631097,14625018,14569258,12645817,12529644,12477932,12367612,12367595,12232773,12225856,12210273,12091471,11992121,11140838,10512150,10449790,10050966,9655866,9373149,8175718,8133292,8125298,2847710,1330891 2554 DC334834,R60404,X13584,X14766,NM_000806,NM_001127643,NM_001127644,NM_001127645,NM_001127646,NM_001127647,NM_001127648,AC021079,AC108130,CH471062,S69334,AK223447,AK289792,AV720972,AW148652,BC030696,BM927274,DA075784,DA228536,DA232066,DB485936,DB487114,DC307259,DC325179 CAA31925,CAA32874,P14867,Q53F42,ABM81841,NP_000797,NP_001121115,NP_001121116,NP_001121117,NP_001121118,NP_001121119,NP_001121120,EAW61537,EAW61538,EAW61539,BAD97167,BAF82481,AAH30696 Hs.175934 GDB:119966 ECA4|EJM protein-coding 1349486 GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 8391122,18482426,18361719,18005236,17949392,17690794,17655760,17507911,17207817,16894595,16622805,16562401,16557364,16395124,16080114,15950776,15834213,15702134,15274050,15033447,15024690,14702039,12477932,10449790,10023064,8175718 2555 NM_000807,NM_001114175,AC093745,AC095060,AC104072,CH471069,AB209295,AK125179,AK289662,AK307128,BC022488,BX108394,S62907,A28100 NP_000798,NP_001107647,AAY40994,EAW93022,EAW93023,EAW93024,EAW93025,BAD92532,BAF82351,AAH22488,AAB27278,P47869,Q4W5L8,Q8TBI4,CAA01918 Hs.116250 GDB:119967 FLJ97076 protein-coding 732437 GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. 1358628,1580863,1358391 8391122,18334916,18085588,17970773,16344560,15489334,15048654,15033447,14751442,12477932,11840313,11602034,11528422,11378843,11140838,10602120,9655866,9380754,8175718,2574000,2561974 1358628,1358391 2556 NM_000808,NG_007102,AC108171,AC116666,AF166361,AF282854,CH471169,BC028629,DA402645,S62908,A28102 NP_000799,AAG12455,EAW99423,AAH28629,AAB27279,P34903,CAA01919,ABM83334,ABM86547 Hs.123024 GDB:119968 MGC33793 protein-coding 734147 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. 1580863 8719416,18482426,18334916,17135278,17124266,16770606,16080114,14702039,12477932,12242096,12091471,10903861,8175718,7607683 2557 AF238869,AK090780,BC035055,BC036474,BC037926,BC042117,BI599812,U30461,NM_000809,AC107383,CH471069,U20166 AAH35055,AAB52519,P48169,Q8IYR7,ABM82605,ABM85790,ABW03406,NP_000800,EAW93029,AAA74743 Hs.248112 GDB:370881 protein-coding 736048 GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. 1358630,1358629,1580863,1358391 1321750,17957331,17680603,17580321,17353214,16674551,16080114,15882799,15489334,15033447,12477932,12048673,11378843,11287792,11140838,9668167,9205108,9126483,8388764,7851879,1338907 1358630,1358629,1358391 2558 AAB22608 AF228447,AF228448,AF228449,CH471151,AK290453,BC011403,BC111979,BC113422,BT009830,L08485,A28104,AF061785,NM_000810,XM_001123369,AC127511,AC135999,AC136992,AC145196 AAC31809,AAF62508,AAF62509,AAF62510,EAW57656,EAW57657,BAF83142,AAI11980,AAI13423,AAP88832,AAA58490,AAB22608,P31644,CAA01920,ABM85193,ABW03702,NP_000801,XP_001123369 Hs.612087 GDB:132415 MGC138184 protein-coding 732651 GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. 1580863 8632757,17440936,17295876,17167337,16778401,16402352,16344560,16172613,15542698,15489334,15466411,15197399,15196679,14744464,14702039,12477932,12232773,12080446,12079890,11140838,10023064,8175718,8020978 2559 AC091944,AF053072,CH471062,AK090735,AK289461,NM_000811,BC096241,BC096242,BC099640,BC099641,DA068807,S81944 NP_000802,AAD19830,EAW61542,BAF82150,AAH96241,AAH96242,AAH99640,AAH99641,AAB36480,Q16445,Q71UU0 Hs.90791 GDB:330753 MGC116903|MGC116904 protein-coding 731063 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. 1580863 11140838,11085308,10900018,10449790,10195104,10023064,9373149,8178835,8125298,2160058,1655634,1652891,1323140,1321150,2465923,17655760,16800828,16770606,16278087,15489334,15337300,12601092,12595241,12477932,11891318,11606067,11350968,11324945 2560 NM_000812,AC097712,AC105394,AC107392,AF285168,CH471069,M59216,AK225167,AK225686,BC022449,CR614851,S70733,X14767 NP_000803,AAF88061,EAW93030,EAW93031,EAW93032,AAA35862,AAH22449,AAB30712,CAA32875,P18505,ABM83283,ABM84296,ABM86490,ABM87689,ABM87690 Hs.27283 GDB:119969 protein-coding 735355 GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2 The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. 1580863 8264558,18334916,18197653,18180429,17440936,17412563,17251430,17167345,16950232,16778401,16766085,16627470,16472798,16172613,15542698,15489334,15337300,15033447,15016806,14966130,14702039,14699426,14625018,14503638,12574411,12477932,12435728,12232773,12034717,11854302,11140951,11085308,10493732,10449790,10023064,9153573,8590827,8175718,7851879,7707873,1334482,1321150 2561 NM_000813,NM_021911,AC008712,AC022120,AC091882,AC091989,CH471062,AK055125,AK289730,AK289815,BC036592,BC099705,BC099719,BC105639,CR621869,S67368,S77553,S77554,A28108 NP_000804,NP_068711,EAW61543,EAW61544,BAF82419,BAF82504,AAH99705,AAH99719,AAI05640,AAB29370,AAB33982,AAB33983,P47870,CAA01922 Hs.303527 GDB:335182 MGC119386|MGC119388|MGC119389 protein-coding 736139 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding isoforms with distinct signal peptides have been described. 704404,1580863,1601269,1601268 1664410,18452349,18358985,18085588,17957331,17880575,17471287,17339270,17326191,17272867,17230033,17225872,17215107,17124266,16835263,16674551,16080114,16023997,15767729,15615769,15489334,15337300,15318112,15296817,15066703,14724252,14702039,14503638,12640458,12595241,12491987,12477932,12367595,12225856,12189488,12048673,11920158,11810291,11711165,11140838,11085308,10023064,9328477,9126483,8389098,8382702,8175718,8136833,7851879,1714232,1346439 1601269,1601268 2562 AK056018,AK095011,BC010641,BC038837,BE783170,CR597025,DN994054,M82919,NM_021912,NM_000814,AC009878,AC011196,AC104569,CH471151,L04311 AAA52507,AAA52508,AAH10641,AAA52511,P28472,Q68CS5,ABM82012,ABW03356,NP_068712,NP_000805,EAW57653,EAW57654,EAW57655 Hs.302352,Hs.657298 GDB:127549 MGC9051 protein-coding 733681 GABRD gamma-aminobutyric acid (GABA) A receptor, delta Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. 1580863 2176788,18406065,16713569,16710414,16344560,16256272,16189514,16023832,15489334,15115768,12477932,12119096,10965146 2563 NM_000815,AL391845,CH471183,AF016917,AI828107,AI936907,AK290861,AW291520,BC033801,BI824761,DA060315,DA064930 NP_000806,CAI15436,EAW56137,AAB70007,BAF83550,AAH33801,O14764,ABM82976 Hs.113882 GDB:127956 MGC45284 protein-coding 68441 GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 9039914,17714454,17615250,17293408,15946973,15755675,14702039,12477932,12367593,10804200,10023064,9339354,9185540,9084408 2564 NM_021990,NM_004961,NM_021984,NM_021987,AF274855,CH471169,U92283,Y09763,Y09764,AF086385,AK124085,AL603607,BC026337,BC047108,BC059376,CR591394,U66661,U92285,Y07637,Y09765 NP_068830,NP_004952,NP_068819,NP_068822,EAW99415,EAW99416,EAW99417,EAW99418,EAW99419,AAB94645,CAA70903,AAH26337,AAH47108,AAH59376,AAB49284,CAA68914,EAW99414,CAA70904,P78334,Q6PCD2 Hs.22785 GDB:5892179 protein-coding 732733 GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1 The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. 1580863 17507911,16080114,14702039,12477932,11948245,10449790,1321425 2565 NM_173536,AC095058,AC096592,CH471069,AK122845,AK124800,AK289806,BC031087,BX648937,CR933628 NP_775807,EAW93021,BAF82495,AAH31087,CAI45936,Q5H9T8,Q8N1C3,ABM81902,ABM85076 Hs.375051 GDB:127810 DKFZp686H2042|MGC33838 protein-coding 1344590 GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. 1358631,1580863 2538761,9892355,18292428,18197653,18085588,17927801,17880575,17641256,17440936,17162195,17124266,16806831,16627470,16412095,16344560,16172613,15955415,15772696,15542698,15489334,15470132,15342642,15257153,15033447,15016806,14981251,14966130,14736867,14702039,14625018,14593118,14569258,12759178,12694927,12672902,12574411,12477932,12384214,12367595,12367594,12232773,12225856,12117362,11948245,11748509,11328646,11326275,11326274,11140951,10659839,10449790,8875185,7851879,1321425,1321150 1358631 2566 NM_198904,NM_000816,NM_198903,AC008611,AC091926,AC091984,AF165124,CH471062,AK123394,BC036030,BC052926,BC059389,BC069348,BC074795,CD013896,CD013897,DA226729,X15376 NP_944494,NP_000807,NP_944493,AAD50273,EAW61532,EAW61533,EAW61534,EAW61535,AAH59389,AAH69348,AAH74795,CAA33437,P18507,Q6PCC3,Q9UDB3 Hs.7195 GDB:125918 CAE2|ECA2|GEFSP3 protein-coding 733632 GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 1580863 18334916,17957331,16674551,16080114,14981720,14745296,12477932,11948245,11329013,10891602,8719414,8175718,7601451 2567 NM_033223,AC104002,AC127511,AC136896,AC145436,AF228458,AF269144,CH471151,BC029850,BC045709,BG201662,BX282033,S82769 NP_150092,AAF63215,AAF99698,EAW57658,EAW57659,Q99928,AAB39369 Hs.569475,Hs.592027 GDB:371033 protein-coding 737032 GABRP gamma-aminobutyric acid (GABA) A receptor, pi The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. 728637,1580863 9182563,16187283,16172613,15489334,14702039,12477932,10462548,12775419,10414965,10209232 728637 2568 AC008514,NM_014211,AC008815,AF009693,AF009694,AF009695,AF009696,AF009697,AF009698,AF009699,AF009700,AF009701,AF009702,CH471062,AK055205,AK292901,BC074810,BC074865,BC109105,BC109106,CR599634,U95367 NP_055026,AAC24194,EAW61466,EAW61467,EAW61468,BAF85590,AAH74810,AAH74865,AAI09106,AAI09107,AAC51357,O00591,Q32MJ1 Hs.26225 GDB:6275871 MGC126386|MGC126387 protein-coding 731793 GABRQ gamma-aminobutyric acid (GABA) receptor, theta The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, theta subunit. It is mapped to chromosome Xq28 in a cluster including the genes encoding the alpha 3 and epsilon subunits of the same receptor. This gene location is also the candidate region of 2 different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). 68250,1580863 10449790,15489334,12477932,10804200,10414349 68250 55879 NM_018558,AF002997,CH471169,AF144648,AF189259,BC109210,BC109211 AAF70380,NP_061028,EAW99424,AAD51172,AAI09211,AAI09212,Q15739,Q9UN88 Hs.283081 GDB:11500422 MGC129629|MGC129630|THETA protein-coding 1346666 GABRR1 gamma-aminobutyric acid (GABA) receptor, rho 1 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. 1580863 1849271,10779366,18227272,18079559,16198491,15548535,15163459,14660627,14574404,12431995,12226075,12175859,11862606,11102469,10625616,10542332,9892354,9839716,9153229,7472519,1315307 2569 NM_002042,AL353135,AL353659,CH471051,BC130344,M62400 NP_002033,CAI16246,CAC36328,EAW48558,AAI30345,AAA52509,P24046 Hs.437745 GDB:127887 MGC163216 protein-coding 733076 GABRR2 gamma-aminobutyric acid (GABA) receptor, rho 2 GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA receptor complex. 1580863 1315307,17913586,15489334,14574404,12660236,12477932,12431995,12175859,11102469,10542332,9839716,9153229 2570 NM_002043,AL121833,CH471051,BC130352,BC130354,BX490975,M86868 NP_002034,CAC07339,EAW48557,AAI30353,AAI30355,AAA52510,P28476 Hs.99927 GDB:128713 protein-coding 1352541 GABRR3 gamma-aminobutyric acid (GABA) receptor, rho 3 1580863 16641997,15617751,10542332,12431995 200959 NM_001105580,AC026100,Y18994,CR749263 NP_001099050,CAB60835,A8MPY1 Hs.534578 DKFZp781O1955 protein-coding 730853 GAD1 glutamate decarboxylase 1 (brain, 67kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. 1302586,1580863,1300048 10671565,1549570,8954991,18335162,18294085,18047830,17918742,17767149,17652798,17553960,17471287,17412563,17384644,17325256,17303389,17235515,17113713,16718280,15836621,15806582,15571623,15542242,15505639,15489334,15147202,15114630,15103710,15091314,15014985,14702039,14681921,12774663,12515288,12477932,12376704,11140838,9973289,8507203,8507202,8088791,2039509,1697032,1683463,1339255,16189514,7836456,15681389 1302586 2571 NM_013445,NM_000817,AC007405,AY337516,CH471058,M86522,AF178853,AK127781,AK292582,BC002815,BC026349,BC036552,BC037780,L16888,M55574,M70434,M81883,S61897,S61898,Z22750,A28074 NP_038473,NP_000808,AAY24237,AAP88035,EAX11228,EAX11229,EAX11230,AAA35900,AAF18390,BAF85271,AAH02815,AAH26349,AAH36552,AAH37780,AAB59427,AAA72938,AAA52512,AAA62368,AAB26937,AAB26938,CAA80435,Q09LL7,Q49AK1,Q53TQ7,Q8IVA8,Q99259,CAA01913,ABM83302,ABM86516 Hs.420036 GDB:119244 FLJ45882|GAD|SCP protein-coding 733945 GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. 1302511,1580863,1300048 10671565,1549570,8954991,18378887,18371956,18047830,17992632,17657474,17479437,17459095,17412563,17384644,17167787,17090641,17034009,16741266,16731858,16718280,16122350,15836621,15834701,15671113,15642443,15365614,15277377,15170642,15163889,15147202,15114630,15091314,14691540,14576464,14557453,12606513,12503190,12477932,12376704,12356867,12296864,12197888,12196483,12097368,12021103,12021098,10814590,8999827,8243826,8088791,7836456,7680313,2039509,1924293,15603740 1302511 2572 AL162503,AY340073,CH471072,AJ251501,AK127375,BC029517,BC039038,BC126327,NM_000818,BC126329,M74826,M81882 NP_000809,CAH73658,CAH73659,CAH73660,AAP88040,EAW86101,EAW86102,EAW86103,EAW86104,CAB62572,BAC86947,AAH29517,AAI26328,AAI26330,AAA58491,AAA62367,Q05329,Q4G154,Q5VZ29,Q5VZ30,Q5VZ31,Q6ZSK1,Q9UGI5 Hs.231829 GDB:128595 GAD65|MGC161605|MGC161607 1643373,1643375,1643390,2289527 BW341_H,BW342_H,BW343_H,BW436_H protein-coding 733803 GADD45A growth arrest and DNA-damage-inducible, alpha This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. 1580863 7973727,10828065,10747892,7798274,18350249,17703175,17616671,17599061,17474084,17436581,17230496,17178890,17140287,16997058,16951143,16827157,16772293,16421274,16381901,16353139,16189514,16157202,15899854,15736438,15735726,15644315,15642443,15623356,15489336,15489334,15353598,15203190,14647444,14635187,14586402,14517299,14506229,12716909,12483522,12477932,12171872,12168790,11893252,11777930,11498536,11076863,10973963,10872826,10022855,9827804,8226988,7478594,7478510,1990262,15650754,12748288,7784094,10912791,10362260,9178907,9705499,15616591,12124778 1647 NM_001924,AL136120,AY135686,CH471059,L24498,BC011757,CR608507,CR609553,CR611787,CR612467,CR612719,CR613302,CR623510,DQ008445,EF581092,EF614238,M60974 NP_001915,CAI23494,CAI23495,AAM88884,EAX06487,EAX06488,AAA72045,AAH11757,AAY25021,ABQ52427,AAA35863,P24522,Q5TCA7,Q5TCA8,CAL38317,ABM84155,ABM87557 Hs.80409 GDB:127967 DDIT1|GADD45 growth arrest and dna-damage-inducible 45 alpha protein-coding 1319220 GADD45B growth arrest and DNA-damage-inducible, beta This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. 1580863 9827804,18343408,17591973,17485467,17437852,16144844,15642734,15546867,15509538,15489334,15057824,14630914,12855571,12759252,12716909,12477932,12162804,12124778,11498536,11078829,10973963,10872826,10828065,10773677,10101024,9151207,8700517,1899477,14743220,15616591 4616 NM_015675,AC005624,AF533019,CH471139,AF078077,AF087853,AF090950,AK129595,AK293087,AL050044,AY615270,AY615271,BC024654,BC113466,BC117469 NP_056490,AAC34572,AAM92794,EAW69376,EAW69377,AAC83328,AAG48366,AAC36361,BAF85776,AAT38867,AAT38868,AAI13467,AAI17470,O75293,Q6IX74 Hs.110571 GDB:127518 DKFZP566B133|GADD45BETA|MYD118 protein-coding 1323436 GADD45G growth arrest and DNA-damage-inducible, gamma This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. 1580863 15383276,9827804,17178890,16189514,16166418,15489334,15353598,15062559,14672412,12716909,12477932,12124778,11889197,11498536,11078829,11022036,10973963,10872826,10773677,10597261,10496071,10490824,10455148,7681987 10912 NM_006705,AF265659,AF494037,AL161910,CH471089,AF078078,AF079806,AF087883,AY845250,BC000465,BC019325,BT007234,CR457038,CR591382,CR595761,CR601992,CR605667,CR617419,CR619521,D83023 NP_006696,AAF73468,AAM00007,CAH71790,CAH71791,EAW62774,AAC83329,AAD28544,AAK00414,AAW29982,AAH00465,AAH19325,AAP35898,CAG33319,BAA84543,O95257,Q5MAI3,Q5VZ87,Q5VZ88,Q6IAW6,Q9UJS2 Hs.9701 GDB:9958589 CR6|DDIT2|GADD45gamma|GRP17 protein-coding 1319487 GADD45GIP1 growth arrest and DNA-damage-inducible, gamma interacting protein 1 1580863 15231747,17804717,17069992,15489334,15459248,12716909,12482659,12477932,11710515,10441517 90480 BC004944,BC013027,BC013039,BC069200,NM_052850,AC092069,CH471106,AF412816,AF475095,AF479749,AJ295986,AJ429498 CAD22344,AAH04944,AAH13027,AAH13039,AAH69200,Q7LAX7,Q8TAE8,NP_443082,EAW84335,AAL55291,AAM10639,AAL85877,CAC82499 Hs.515164 CKBBP2|CRIF1|MGC4667|MGC4758|PLINP-1|PRG6|Plinp1 protein-coding 1351528 GADL1 glutamate decarboxylase-like 1 12477932 339896 NM_207359,AC096921,AC138391,CH471055,AK128643,AL832766,BC093701,BC111986 NP_997242,EAW64414,BAC87546,AAH93701,AAI11987,Q6ZQY3 Hs.657052 MGC138191 protein-coding 1351546 GAGE1 G antigen 1 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The GAGE1 cDNA contains a 143-bp insertion, located in the coding sequence near the termination codon, that is absent from the other cDNAs.The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. An alternatively spliced transcript variant has been found for this gene. 1580863 7544395,18179644,17208940,12477932,10397259,9651357 2543 NM_001468,NM_001040663,AC142496,AC142497,BC005363,BC036094,DB448801,U19142 NP_001459,NP_001035753,AAH05363,AAH36094,AAA82744,Q05DQ1,Q13065,Q8IYC5,ABM81885,ABM85053 Hs.632815 GDB:568796 MGC33825 protein-coding 1602944 GAGE10 G antigen 10 18179644,11329013 643832 NM_001098413,AF235097 NP_001091883,AAI60111 Hs.709908 protein-coding 1606614 GAGE12B G antigen 12B 18179644,12477932,11329013 729428 NM_001127345,AC142497,BC130374 NP_001120817,AAI30375,A1L429 Hs.632812 MGC163246 protein-coding 1606349 GAGE12C G antigen 12C 18179644 729422 NM_001098408,AC142497 NP_001091878,A1L429 Hs.632812 protein-coding 1603137 GAGE12D G antigen 12D 18179644 100132399 XM_001720189,NM_001127199,AC142497 XP_001720241,NP_001120671 Hs.645554 protein-coding 1606348 GAGE12E G antigen 12E 18179644,11329013 729431 NM_001098418,AC142497 NP_001091888 Hs.632812 protein-coding 1625320 GAGE12F G antigen 12F 18179644 100008586 BC121183,NM_001098405,AC142497,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182 AAI21184,NP_001091875,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183 Hs.460641 protein-coding 1606347 GAGE12G G antigen 12G 12477932 645073 NM_001098409,AC142497,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183 NP_001091879,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,O76087,Q66I50 Hs.632808 MGC132611|RP11-959H17.6 protein-coding 1606346 GAGE12H G antigen 12H 18179644 729442 NM_001098410,AC142497 NP_001091880 Hs.632813 RP11-959H17.7 protein-coding 1344596 GAGE12I G antigen 12I This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 15489334,12477932,10397259,9651357,7544395,18179644,15772651 26748 NM_001477,AF055475,BX649339,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183 NP_001468,AAC33678,CAI95423,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,O76087 Hs.460641,Hs.658117 GDB:10795435 AL4|CT4.7|GAGE7B|gage7b g antigen 7b protein-coding 1606350 GAGE12J G antigen 12J 18179644,12477932 729396 NM_001098406,AF235097 NP_001091876 Hs.460641,Hs.709908 GAGE11 protein-coding 1604406 GAGE13 G antigen 13 18179644,15772651,12477932,11329013 645051 XM_001713660,NM_001085441,AC142497,AF235097,BX649339 XP_001713712,NP_001078910,CAI95426,A1L429,Q4V321 Hs.632812,Hs.695912 GAGE12A|MGC163246 protein-coding 1350714 GAGE2A G antigen 2A 15772651,15489334,12477932,11329013,7544395 729447 XM_001130991,NM_001127212,AC142497,BC069309,BC069397,BC069558,EC558573 XP_001130991,NP_001120684,AAH69309,AAH69397,AAH69558,Q13066,Q6NT46 Hs.711452 MGC96883|MGC96930|MGC96942 protein-coding 2292466 GAGE2B G antigen 2B 18179644 645037 NM_001098411,BX649339 NP_001091881,CAI95425 protein-coding 2293117 GAGE2C G antigen 2C This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 18179644,15772651,15489334,12477932,10397259,10037183,9651357,7544395 2574 NM_001472,BX649339,BC113926,U19143 NP_001463,CAI95424,AAI13927,AAA82745 Hs.658117 GDB:568798 CT4.2|GAGE2|MGC120097|MGC96883|MGC96930|MGC96942 protein-coding 2293111 GAGE2D G antigen 2D 18179644 729408 NM_001098407,BX649339 NP_001091877,CAI95422 Hs.668804 GAGE8 protein-coding 1346373 GAGE3 G antigen 3 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 18179644,12522270,10397259,9651357,7544395 2575 U19144 AAA82746,Q13067 GDB:568799 protein-coding 1344954 GAGE4 G antigen 4 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 18179644,15489334,12477932,10397259,9651357,7544395 2576 NM_001474,BC069470,CR542236,U19145 NP_001465,AAH69470,CAG47032,AAA82747,Q13068 Hs.460641,Hs.632815 GDB:568800 protein-coding 1354409 GAGE5 G antigen 5 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 18179644,16189514,15489334,12477932,10397259,9651357,7544395 2577 NM_001475,BC024914,U19146 NP_001466,AAH24914,AAA82748,Q13069,ABM82086,ABM85267 Hs.460641 GDB:568802 protein-coding 1352149 GAGE6 G antigen 6 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 18179644,10397259,9651357,7544395 2578 NM_001476,U19147 NP_001467,AAA82749,Q13070,AAI48436 Hs.645553 GDB:568803 protein-coding 1347743 GAGE7 G antigen 7 18179644,15772651,15489334,12477932,12432251,10397259,10037183,9651357 2579 NM_021123,AF055474,AF058988,BC031628,BC069086,BC081536,BC104951,BC121182,BC121183 NP_066946,AAC33677,AAC25989,AAH31628,AAH81536,AAI04952,AAI21183,AAI21184,O76087 Hs.460641,Hs.658117 GDB:9864290 GAGE-7 protein-coding 1349095 GAGE8 G antigen 8 This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. 1580863 12477932,9651357,16189514,10397259,18179644,15772651,15489334 100101629 NM_012196,AF055473,BC018052 NP_036328,AAC33676,AAH18052,Q9UEU5,AAI56223,AAI56972 Hs.668804 GDB:10795437 MGC190052|MGC190826|MGC26395 protein-coding 1343751 GAGEC2 G antigen, family C, 2 9724777 9505 GDB:9957206 731643 GAK cyclin G associated kinase In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. 1580863,1300048 9299234,17538018,16895969,16344560,16189514,16161052,15752756,15489334,15240878,14702039,12732633,12477932,12010461,11148137,10887964,10625686,9013862 2580 NM_005255,AC019103,AC139887,CH471131,AB208854,AK097714,AK126735,AK127351,BC000816,BC001290,BC008668,BC063606,BC085005,BC107076,BT007015,CR596345,CR613787,CR619409,D88435,DA680073 NP_005246,EAW82644,EAW82645,EAW82646,BAD92091,BAC86662,AAH00816,AAH08668,AAH63606,AAH85005,AAI07077,AAP35661,BAA22623,O14976,Q3B835,Q59HA5,Q5U4P5,Q6P490,Q6ZTD0,Q86U72 Hs.369607 GDB:5560469 FLJ40395|MGC99654 protein-coding 737194 GAL galanin prepropeptide 1624341,704404,1624334,1624331,1624333,1624339,1625748,1580863 1722333,1370155,18322398,18272487,17573119,17083333,16787232,16341674,16314872,15944034,15930442,15927790,15893372,15735230,15648541,15283968,15111018,14997482,14706552,14700749,12814355,12769595,12654333,12647269,12477932,12471460,12106297,11712539,11595426,11279301,9928160,9808667,9685625,8617199,7524088,7508413,2485092,2469045,2465504,2460590,2447134,2446889,2444569,2427385,2423990,1719117,1711463,1710578,1702449,1701228,1698834 1624341,1624334,1624331,1624333,1624339,1625748 51083 NM_015973,A28025,AP003096,CH471076,L11144,AF077047,BC030241,BM846531,M77140 NP_057057,CAA01907,EAW74715,EAW74716,EAW74717,AAA18248,AAD27780,AAH30241,AAA60178,P22466,Q9Y2S1 Hs.278959 GDB:141567 GALN|GLNN|GMAP|MGC40167 1643371 BW329_H protein-coding 1350287 GAL3ST1 galactose-3-O-sulfotransferase 1 Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. The product of this gene is galactosylceramide sulfotransferase which catalyzes the conversion between 3'-phosphoadenylylsulfate + a galactosylceramide to adenosine 3',5'-bisphosphate + galactosylceramide sulfate. Activity of this sulfotransferase is enhanced in renal cell carcinoma. 1580863 9030544,15489334,15461802,12477932,12175333,10785389,9847074,8830034,6955451,6280086,5562350,4710574,2562955,911873 9514 NM_004861,AB029901,AC005006,CH471095,BC014649,BC019077,CR456350,CR595763,D88667 NP_004852,BAA89503,EAW59899,EAW59900,EAW59901,EAW59902,EAW59903,AAH14649,AAH19077,CAG30236,BAA13673,Q99999,CAK54491,CAK54790,ABM83198,ABM86399 Hs.17958 CST protein-coding 1346582 GAL3ST2 galactose-3-O-sulfotransferase 2 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. 1580863 11029462,15926885,15921657,15489334,14701868,12477932,12036446,11926988,11504739,11333265,11323440,11181995 64090 NM_022134,AC114730,CH471063,AB040610,BC117293,BC117295 NP_071417,AAX82021,EAW71293,BAB16844,AAI17294,AAI17296,Q57Z52,Q9H3Q3 Hs.632556 GAL3ST-2|GP3ST protein-coding 1343263 GAL3ST3 galactose-3-O-sulfotransferase 3 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. 1580863 11323440,11356829,15489334,14701868,12477932,11333265,10815989,8889548 89792 NM_033036,AP006287,CH471076,AB053232,AY026481,BC113552,BC113554,BM673570 NP_149025,EAW74490,BAB61900,AAK01945,AAI13553,AAI13555,Q96A11 Hs.208343 GAL3ST-3|GAL3ST2|MGC142112|MGC142114 protein-coding 1351990 GAL3ST4 galactose-3-O-sulfotransferase 4 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. 737633 11333265,15498874,15489334,14702039,14701868,12690205,12477932,9373149,8125298 737633 79690 NM_024637,AC073842,CH236956,CH471091,AF289575,AF316113,AK022178,AK092367,AK225890,AL833824,BC012976,BM889458,CR605645 NP_078913,EAL23847,EAW76575,EAW76577,EAW76579,AAL55759,AAK73365,BAB13977,CAD38686,AAH12976,Q96RP7 Hs.44856 FLJ12116|GAL3ST-4 protein-coding 1347926 GALC galactosylceramidase This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 7601472,17579360,17458901,16607461,16344560,15657896,15489334,12477932,11814461,10833326,10477434,10234611,9434153,9338580,9272171,8940268,8889548,8786069,8595408,8399327,8297359,8281145,8162701,7581365,7417782,6811701,3278379 2581 NM_000153,NM_001037525,AL136501,AL157955,CH471061,D86181,L38559,AI025909,BC036518,BE501000,BU675449,CK299420,D25283,D25284,DA247447,DA332567,H80485,L23116 NP_000144,NP_001032614,EAW81359,EAW81360,EAW81361,EAW81362,BAA24902,AAA80975,AAH36518,BAA04971,BAA04972,AAA16645,P54803,ABM82158,ABM85342 Hs.513439 GDB:119970 protein-coding 733015 GALE UDP-galactose-4-epimerase This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. 704404 15175331,18188677,16710414,16611573,16385452,16344560,16302980,16301867,15701638,15639193,15489334,14702039,12477932,11279193,10801319,9973283,9700591,9538513,9326324,8593531,8295413,7305435,6408303,477411,16189514 2582 NM_001008216,NM_000403,NG_007068,NM_001127621,AF022382,AL031295,CH471134,DQ233667,AK057302,AK096127,AK307354,AK314397,AL530475,BC001273,BC050685,BC056880,BI835132,BQ437612,CR592211,CR592671,CR596991,CR601378,CR602422,CR611350,CR616462,CR616589,CR620370,DA043957,DQ233668,L41668 NP_001008217,NP_000394,NP_001121093,AAC39645,CAB40159,CAI23149,CAI23154,CAI23155,CAI23156,CAI23157,EAW95083,EAW95084,EAW95085,EAW95086,EAW95087,EAW95088,EAW95089,EAW95090,EAW95091,EAW95092,EAW95093,ABB04109,BAG37021,AAH01273,AAH50685,ABB04110,AAB86498,Q14376,Q38G75,Q5QPP1,Q5QPP2,Q5QPP3,Q5QPP4,ABM82679,ABM85860 Hs.632380 GDB:119245 FLJ95174|FLJ97302 protein-coding 1313365 GALK1 galactokinase 1 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. 1300192,1580863 12694189,7542884,14596685,15024738,8908517,17517531,15590630,15526155,15489334,15003454,12942049,12477932,11978884,11978883,11231902,11139256,10790206,10570908,10521295,7670469,6263522 1300192 2584 NM_000154,NG_007372,AC087749,AF084935,CH471099,L76927,AK130064,BC001166,BT007005,U26401 NP_000145,AAC35849,EAW89316,AAB51607,BAC85288,AAH01166,AAP35651,AAA96147,P51570,Q6ZP37,Q71UH7,ABW03633 Hs.407966 GDB:119246 GALK|GK1 protein-coding 1318611 GALK2 galactokinase 2 This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 7542884,16006554,15489334,14702039,12477932,8798585,8702831,1438294 2585 NM_001001556,NM_002044,AC013452,AC022306,AC036102,CH471082,AF461816,AK098049,AL832745,BC005141,BI766538,BT006901,BX096260,BX455251,CA841825,CR616460,CR616580,CR621182,M84443 NP_001001556,NP_002035,EAW77367,AAP97708,AAH05141,AAP35547,AAA58612,Q01415,Q7Z4Q4,ABM92200,ABM84668 Hs.122006,Hs.695113 GDB:136222 GK2|MGC1745 protein-coding 1350990 GALM galactose mutarotase (aldose 1-epimerase) 1580863 15489334,15026423,12753898,12477932,5661008,4963341 130589 NM_138801,AC074366,AY064382,AY064385,CH471053,AK291489,BC014916,BC019263,U11036 NP_620156,AAX93101,AAL62475,AAL62476,EAX00367,BAF84178,AAH14916,AAH19263,AAA67652,Q12915,Q53RY1,Q96C23 Hs.435012 BLOCK25 protein-coding 1602484 GALNAC4S-6ST B cell RAG associated protein 11572857,16024005,15489334,15164054,12874280,12477932,11073942,11032940,10749872,9754571,9628581,3082866 51363 NM_015892,AB025341,AL683842,CH471066,AB011170,AB062423,AF026477,BC027908,BC050540,BC075813,CR749804 NP_056976,BAA83686,EAW49273,EAW49274,EAW49275,EAW49276,BAA25524,BAB72145,AAC71691,AAH27908,AAH50540,AAH75813,CAH18664,Q7LFX5 Hs.287537 GDB:9958482 BRAG|DKFZp781H1369|KIAA0598|MGC34346|RP11-47G11.1 protein-coding 1343157 GALNS galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. 1580863 8325655,17876718,17544310,16378744,16344560,16287098,15489334,15241807,14702039,12721840,12477932,12442278,11524742,10814710,9660054,9521421,9375852,9298823,8910459,8889548,8826435,8651279,8434612,8020961,8001980,7795586,7668283,7633425,7581409,7575473,6224421,4218100,1953646,1794986,1755850,1522213 2588 NM_000512,AC092384,CH471184,D17629,U06088,AK021488,AK124834,AK131096,AK308269,AK310392,AY129021,BC007825,BC018027,BC050684,BC056151,BC109229,BX649181,CK301132,CR592952,CR620126,DA010361 NP_000503,EAW66757,EAW66758,EAW66759,BAA04535,AAC51350,BAB13833,BAC85146,AAM98764,AAH07825,AAH50684,AAH56151,CAE46199,P34059,Q6MZF5,Q6YL38,Q6ZNJ9,Q96I49,Q9HAL1 Hs.271383 GDB:129085 FLJ17434|FLJ42844|FLJ98217|GALNAC6S|GAS|MPS4A protein-coding 736264 GALNT1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. 1580863 7592619,9295285,12506059,18268124,17916404,15489334,14636048,12925576,12477932,12364335,12199709,9847074,9592121,9394011,9312074,9050910,8727794,8690719,8663203,2681181 2589 NM_020474,AC090220,AC090229,AP001394,CH471088,S82597,Y10343,AJ505952,AK293062,BC038440,BC047746,CR601859,U41514,X85018 NP_065207,EAX01359,EAX01360,AAD14406,CAD44535,BAF85751,AAH38440,AAH47746,AAC50327,CAA59380,Q05BM8,Q10472,Q68VJ7 Hs.514806 GDB:4204601 GALNAC-T1 protein-coding 1348778 GALNT10 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) This gene belongs to the polypeptide N-acetylgalactosaminyltransferase (pp-GalNAc-T) gene family. Polypeptide GalNAc transferases initiate the synthesis of mucin-type oligosaccharides by transferring GalNAc from UDP-GalNAc to the hydroxyl group of either a serine or threonine residue on the polypeptide acceptor. Following expression in insect cells, recombinant GalNAc transferase 10 showed significant GalNAcT activity toward mucin-derived peptides, and it utilized both nonglycosylated and glycosylated peptide substrates. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 15489334,14702039,12477932,12417297,11278534 55568 AK090581,AK127135,AL096739,BC007224,BC050333,BC072450,BC098444,BE875528,BG743249,BU661066,NM_198321,NM_017540,AC008625,AC008672,AC008675,AC010295,CH471062,AB078145,AF086521,AJ505950,AK021777,AK023782,AK023815,AK024931,AK074132 BAB84958,CAB46378,AAH07224,AAH72450,AAH98444,Q4G0E1,Q86SR1,Q9HAF6,AAI48616,AAI53182,NP_938080,NP_060010,EAW61639,EAW61640,EAW61641,EAW61642,EAW61643,EAW61644,BAC56890,CAD44532,BAB13893,BAB14676 Hs.651323,Hs.655011 DKFZp586H0623|FLJ00205|FLJ11715|GalNAcT10|pp-GalNAc-T10 protein-coding 1346736 GALNT11 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 1580863 16344560,15489334,15146197,14702039,12853948,12690205,12477932,11925450,9847074 63917 NM_022087,AACC02000108,AC006017,CH471173,AK025287,AK026056,AK124934,AK128545,BC059377,CN309655,DA308896,DA748534,Y12434 NP_071370,EAL24518,AAD45821,EAW53975,EAW53976,BAB15105,BAB15338,AAH59377,CAC79625,Q8NCW6 Hs.647109 FLJ21634|MGC71630 protein-coding 1323692 GALNT12 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) GALNT12 is a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases (EC 2.4.1.41), which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a hydroxyl amino acid on a polypeptide acceptor in the initial step of mucin-type O-linked protein glycosylation (Guo et al., 2002 [PubMed 12135769]).[supplied by OMIM] 1580863 15557789,15489334,15164053,14702039,12477932,12135769 79695 NM_024642,AL136084,CH471105,CQ816242,AB040673,AB078146,AJ132365,AJ505963,AK024865,BC013945 Q58A70,NP_078918,CAI17042,EAW58897,CAG32962,BAD93346,BAC07181,CAC80100,CAD44541,BAB15027,AAH13945,Q68VJ1,Q8IXK2,AAI48410,AAI48740 Hs.47099 FLJ21212|GalNAc-T12 protein-coding 1343318 GALNT13 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM] 1302747,1580863 15815621,15231747,15146197,14702039,12477932,12407114,11572484,11329013,9847074 1302747 114805 NM_052917,AC008166,AC009227,AC009297,AC092584,AC092589,AC133107,CH471058,CQ816246,AB067505,AB078142,AJ505991,AK123152,AK131195,BC101031,BC101032,BC101033,BC101034,BG221433,CN267103,R38990 NP_443149,AAF19246,EAX11464,EAX11465,CAG32964,BAB67811,BAC54545,CAD44533,BAC85542,AAI01032,AAI01033,AAI01034,AAI01035,Q08ER7,Q68VI8,Q8IUC8 Hs.470277 FLJ16031|FLJ41157|GalNAc-T13|H_NH0187G20.1|KIAA1918|MGC119459|MGC119461|WUGSC:H_NH0187G20.1 protein-coding 1320757 GALNT14 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) GALNT14 (EC 2.4.1.41) belongs to a large subfamily of glycosyltransferases residing in the Golgi apparatus. GALNT enzymes catalyze the first step in the O-glycosylation of mammalian proteins by transferring N-acetyl-D-galactosamine (GalNAc) to peptide substrates.[supplied by OMIM] 9373149,12507512,12477932,8125298,17434446,15489334,14702039,12975309 79623 AK122747,AK225808,AY358758,BC006269,BC010659,Y09324,NM_024572,AC009301,AC009305,AC015980,CH471053,AB078144,AJ505966,AK022753,AK074394,AK091313 AAQ89118,AAH06269,AAH10659,CAA70505,Q4ZG75,Q53SU1,Q53TJ0,Q68VI9,Q96FL9,NP_078848,AAX88899,AAX93209,AAY24301,EAX00486,EAX00487,EAX00488,EAX00489,BAC56889,CAD44543,BAB14227,BAC03634 Hs.468058 FLJ12691|FLJ13977|GALNT15|GalNac-T10|GalNac-T14 protein-coding 1321743 GALNT2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) This gene encodes polypeptide N-acetylgalactosaminyltransferase 2, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation in a cell is regulated by a repertoire of GalNAc-transferases. 1580863 12438318,9295285,9852147,12506059,18193044,18193043,16710414,15489334,14702039,12925576,12754287,12477932,9592121,9442070,9394011,9312074,8663203,7592619 2590 NM_004481,AL078646,AL117349,AL136988,CH471098,Y10344,AK025845,AK056187,AK098468,AK290048,BC041120,BC050583,CR590658,CR608732,CR626377,X85019 NP_004472,EAW69908,EAW69909,EAW69910,EAW69911,BAF82737,AAH41120,CAA59381,Q10471 Hs.654649 GDB:696223 GalNAc-T2 protein-coding 1315063 GALNT3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. 1580863 9592121,9295285,8663203,12506059,17853462,17361208,17351710,16940445,16638743,16344560,15860931,15489334,15133511,15041730,14735190,14555840,12708471,12477932,12232759,9884405,9394011 2591 NM_004482,AC009495,CH471058,Y10345,AJ505954,BC056246,BC113565,BC113567,BU567493,BX094158,BX647473,DB098143,DB727693,X92689 NP_004473,AAY14678,EAX11323,EAX11324,CAD44536,AAH56246,AAI13566,AAI13568,CAA63371,Q14435,Q53TG9,Q68VJ6 Hs.170986 GDB:3801456 DKFZp686C10199|GalNAc-T3|HFTC|HHS|MGC61909 protein-coding 1345094 GALNT4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. 9804815,9592121,12506059,18259693,15489334,12477932,10984485,10737800,12754287 8693 NM_003774,AC010201,AC025034,CH471054,Y08564,AK026150,AK026438,AW835269,BC036390,BX647258 NP_003765,EAW97428,CAA69875,AAH36390,Q8N4A0,ABM82610,ABM85795,ABM87830,ABW03407 Hs.25130,Hs.708031 GDB:9956330 GALNAC-T4|GalNAcT4 protein-coding 737016 GALNT5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 1580863 10545594,12477932 11227 NM_014568,AC016732,CH471058,AF154107,AJ245539,AJ505956,AK292154,AY277591,BC142676,BC142703 NP_055383,EAX11449,AAF15313,CAB65104,CAD44537,BAF84843,AAP34404,AAI42677,AAI42704,Q68VJ5,Q7Z7M9 Hs.269027 GDB:9957468 GALNAC-T5|MGC165041 protein-coding 1321517 GALNT6 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. 1580863 10464263,12506059,16344560,16303743,15489334,14702039,12477932,9373149,8125298 11226 NM_007210,AC046135,CH471111,AK025961,AK074658,AK092496,BC035822,BC114505,BC114949,DB001644,Y08565 NP_009141,EAW58190,BAB15297,BAC11118,AAH35822,AAI14506,CAA69876,Q24JS2,Q8NCL4,ABM82150,ABM85333 Hs.505575 GDB:9957466 GALNAC-T6|GalNAcT6 protein-coding 1347952 GALNT7 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. 10544240,16344560,16303743,15489334,14702039,12477932,9847074 51809 NM_017423,AC097534,AC098596,AC105285,CH471056,CS051319,AJ002744,AJ505958,AK128437,BC020541,BC035303,BC046129,BC047468,DB238519 NP_059119,AAY41020,EAX04761,CAI72154,CAB60270,CAD44538,AAH35303,AAH46129,AAH47468,Q4W5F7,Q68VJ4,Q86SF2 Hs.548088 GDB:9957535 GALNAC-T7|GalNAcT7 protein-coding 1350587 GALNT8 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. 1580863 10767557,12438318 26290 NM_017417,AC005833,CH471116,AJ271385,AJ505959,BC140888,BC140889 NP_059113,EAW88835,CAB89199,CAD44539,AAI40889,AAI40890,Q68VJ3,Q9NY28 Hs.511985 GDB:10795390 GALNAC-T8 protein-coding 69656 GALNT9 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10978536,16344560,14702039,12477932,12407114,8889548 50614 CB154648,DA206384,DA370980,DR001000,BM925654,XM_001129598,NM_021808,XM_001716058,XM_001713890,NM_001122636,AC138466,AB040672,AF458594,AJ505960,AK054820,AK055773,BC069354,BC093817,BC093819,BI760629,BM672467 Q52LR8,Q68VJ2,Q9HCQ5,XP_001129598,NP_068580,XP_001716110,XP_001713942,NP_001116108,BAB13699,AAM49722,CAD44540,AAH93817,AAH93819 Hs.301062,Hs.658249 GDB:10796178 GALNAC-T9 protein-coding 1320965 GALNTL1 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 1580863 15489334,14702039,12477932,10574461 57452 NM_020692,AL157996,AL359317,CH471061,CQ816250,AB032956,AB078143,AJ505951,AK091426,AK289745,BC036812,BC098578,BC122545 NP_065743,EAW80986,EAW80987,EAW80988,CAG32966,BAA86444,BAD93178,CAD44534,BAC03662,BAF82434,AAH36812,AAH98578,AAI22546,Q4KMG3,Q58A55,Q68VJ8,Q8N428,Q8NB79 Hs.21035 GALNT16|KIAA1130|MGC141855 protein-coding 1312992 GALNTL2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 11256614,16381901,15489336,15147861,14702039,12975309,12477932,11597177,11230166,11076863 117248 AC087858,NM_054110,AC090953,CH471055,AB078149,AF361251,AJ505964,AK094780,AL831925,AL832575,AL832736,AY035399,AY358443,BC014789,BC030625 NP_473451,EAW64266,EAW64267,BAD29961,AAK48940,CAD44542,CAD38585,CAD89983,AAK63127,AAQ88808,AAH14789,AAH30625,Q0JTG3,Q0JUW2,Q4G146,Q68VJ0,Q8N3T1,CAL37699,CAL38199,ABM81979,ABM85158 Hs.411308 DKFZp686H1113|GALNT13|GALNT15|GALNT7|PIH5 protein-coding 1347297 GALNTL4 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 737633 8619474,15489334,14702039,12477932,9110174 737633 374378 NM_198516,AC023946,AC084243,AC104031,AC131935,CH471064,AB078147,AF131852,AJ626724,AK055111,BC037341,BC060864 NP_940918,EAW68545,BAD93179,AAD20062,CAF25035,AAH37341,AAH60864,Q58A54,Q6P9A2 Hs.655152 GALNT15|GALNT18|GalNAc-T15|MGC71806 protein-coding 1351459 GALNTL5 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 15489334,14702039,12853948,12690205,12477932,9847074 168391 NM_145292,AACC02000108,AC006017,AC074257,AC099345,CH471173,AF440400,AF440404,AK093091,BC022021,BC025391 NP_660335,EAL24517,AAD45823,AAS07457,AAS07428,EAW53977,EAW53978,EAW53979,EAW53980,EAW53981,AAM20912,AAP97318,AAH22021,Q7Z4T8,ABM81715,ABM84871 Hs.647077 GALNT15 protein-coding 1604259 GALP galanin-like peptide GALP is a galanin (GAL; MIM 137035)-like peptide that displays preferential binding and activation of galanin receptor-2 (GALR2; MIM 603691) (Ohtaki et al., 1999 [PubMed 10601261]).[supplied by OMIM] 16787232,10601261 85569 NM_033106,AC024580,CH471135,AF188492,AF188493 NP_149097,EAW72431,AAF19724,AAF19725,Q9UBC7,AAI41469,AAI48723 Hs.283915 protein-coding 735654 GALR1 galanin receptor 1 The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. 1625748,1580863 7524088,8670213,17083333,15930442,15767248,12477932,9808667,9425310,9367674,9168941,8825658,8617199,7534460 1625748 2587 NM_001480,AC100863,CH471117,U90658,U90660,AY541036,BC095530,L34339,U23854,U53511 NP_001471,EAW66603,AAC95397,AAS47032,AAH95530,AAA50767,AAB60356,AAC51936,P47211,Q4VBL7 Hs.272191 GDB:392699 GALNR|GALNR1 protein-coding 733781 GALR2 galanin receptor 2 Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. 1580863 9480833,9685625,9832121,18272487,17083333,15489334,14592962,12477932,11867941,9880084 8811 NM_003857,AC018665,AF042782,AF058762,CH471099,AF040630,AF080586,BC069130,BC074914,BC074915,BC109051,BC109052,EF577401 NP_003848,AAC36587,AAC18118,EAW89364,AAC39634,AAD08671,AAH69130,AAH74914,AAH74915,AAI09052,AAI09053,ABQ52421,O43603 Hs.666366 GDB:9957294 GALNR2|MGC125983|MGC125984 2289580,2289581,2289583 BW461_H,BW460_H,BW462_H protein-coding 735333 GALR3 galanin receptor 3 The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts 728648,1580863 9722565,9832121,17083333,11867941,10591208,10441207,9928159 728648 8484 NM_003614,AB065934,AF129514,CH471095,Z97630,AF067733,AF073799,AY587582 NP_003605,BAC06149,AAD47348,EAW60191,CAB42831,AAC18860,AAC35944,AAS98215,O60755,Q53YJ4 Hs.158353 GDB:9955255 protein-coding 1315126 GALT galactose-1-phosphate uridylyltransferase Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. 1580863 1897530,1427861,18454942,18089596,17876724,17303100,17143577,17041746,16595241,16507021,16416427,16274605,16189514,16125333,16009197,15841485,15749517,15506833,15489334,15308134,14707519,14702039,14614623,12869412,12851678,12606594,12521227,12477932,12370157,12119013,11936817,11919338,11704127,11678552,11511927,11479743,10884393,10439960,10424825,10408771,10220154,9632650,9222760,9012409,8956044,8943248,8892021,8869397,8741038,8598637,8551426,8499924,8198125,8112740,7957929,7887417,7887416,7671959,7550229,6095663,4759900,2840550,2233247,2011574,1610789,1373122,1301925 2592 AL162231,CH471071,L46359,L46360,L46361,L46362,L46363,L46364,L46365,L46691,L46692,L46693,L46694,L46698,L46699,L46703,L46704,L46705,L46706,NM_000155,L46707,L46708,L46709,L46710,L46711,L46712,L46713,L46714,L46715,L46716,L46717,L46718,L46723,L48713,L48714,L48715,L48717,L48718,L48719,L48720,L48721,L48929,L48930,M96264,AK096026,AK096137,BC015045,BI910081,BT009852,CR601917,CR606256,CR609565,CR620178,CR621308,CR623046,M60091,CR621686 NP_000146,CAH69856,EAW58428,AAB59606,AAB59604,AAB59605,AAB59603,AAB59607,AAB59584,AAB59585,AAB59586,AAB59588,AAB59587,AAB59589,AAB59590,AAB59608,AAB59591,AAB59578,AAB59592,AAB59593,AAA81544,AAA81545,AAB59594,AAB59595,AAB59596,AAB59597,AAB59598,AAB59599,AAB59601,AAB59600,AAA81546,AAB59602,AAB59609,AAA81548,AAA81549,AAA82086,AAA81539,AAA81540,AAA81541,AAA81542,AAA81543,AAA82088,AAA81547,AAA74450,BAC04678,AAH15045,AAP88854,AAC83409,P07902,P78433,Q14354,Q14362,Q14366,Q14367,Q14368,Q14379,Q14388,Q16554,Q53XK1,Q5VZ81,Q5VZ82,Q7KZ63,Q8N8Y3,Q9UMJ9 Hs.522090 GDB:119971 protein-coding 732024 GAMT guanidinoacetate N-methyltransferase The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. 1300048,1580863,1359082,1359081,1601275 9325156,8547310,17336114,17171576,16899382,15489334,15057824,12477932,10531498,9570966,9305847,8651275 1359082,1359081,1601275 2593 AF086508,AK289465,BC016760,BC017936,BI914772,BT007034,CR592539,CR598497,CR622940,Z49878,NM_000156,NM_138924,AC005329,AF010246,AF010247,AF010248,AF188893,CH471139 EAW69505,EAW69506,BAF82154,AAH16760,AAH17936,AAP35682,CAA90035,Q14353,NP_000147,NP_620279,AAC27668,AAD04781,AAF01461 Hs.81131 GDB:1313736 PIG2|TP53I2 protein-coding 2293179 GAMTP guanidinoacetate N-methyltransferase pseudogene 391491 NG_007653,AC013435,AC073476 pseudo 1317147 GAN giant axonal neuropathy (gigaxonin) This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) The encoded protein plays a role in neurofilament architecture and is mutated in giant axonal neuropathy. 1580863 12147674,16227972,16303566,17587580,17578852,17331252,17256086,17081983,15489334,14702039,12655563,12477932,11971098,11062483,9450783,15778465 8139 NM_022041,AC009148,AC092139,CH471114,AF291673,AK095378,BC016717,BC044840 NP_071324,EAW95535,AAG35311,AAH44840,Q9H2C0 Hs.112569 GDB:9864885 FLJ38059|GAN1|GIGAXONIN|KLHL16 protein-coding 1320293 GANAB glucosidase, alpha; neutral AB 8416962,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,14667819,17353931,17672918,17081065,15489334,12477932,12133958,11564800,10929008,10921916,10764838,10764837,9148925,8910335,7788527,6342981,3881423,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,11752220,8794362,8794361 23193 NM_198335,AF460334,AP001458,CH471076,AF144074,AJ000332,AK026548,AK026567,AK026997,BC005405,NM_198334,BC017433,BC017435,BC034439,BC065266,BG720650,CR592838,CR604770,CR609998,CR612897,CR622917,D42041 NP_938148,NP_938149,AAM83349,EAW74045,EAW74046,EAW74047,EAW74048,EAW74049,EAW74050,AAF66685,CAA04006,AAH05405,AAH17433,AAH17435,AAH65266,BAA07642,Q14697,Q9BS14 Hs.595071 GDB:119247 G2AN|GluII|KIAA0088 protein-coding 1350162 GANC glucosidase, alpha; neutral C Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. 1300193,1580863 12370436,16381901,15489336,15489334,1678778,12560567,11752220,8794362,8794361,8416962,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,14702039,14675785,12477932,12434312,11076863,7030525,6995030,6994494,6369775,6362728,3135493,1352226,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177 1300193 2595 NM_198141,AC012651,AC022468,AF525397,AF545045,AF545046,AK074037,AK074330,BC059406,BC093833,BC112051,BE893238,BM999150,BQ000944,CR618292 NP_937784,AAO14993,AAN74756,AAN74757,BAB84863,AAH59406,AAH93833,AAI12052,Q0JT20,Q2M2A3,Q8TET4,CAL37469,CAL38344,AAI51224 Hs.693779 GDB:119248 MGC138256 protein-coding 730980 GAP43 growth associated protein 43 The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This encoded protein is considered a crucial component of an effective regenerative response in the nervous system. 1580863 3272162,17619016,17577668,17412328,16381901,15694236,15489336,15489334,14702039,12898703,12805215,12704705,12477932,12105219,12034726,11978831,11528129,11256614,11238933,11076863,10544214,10521589,10391209,9881859,9774477,9742146,9618702,8900147,8746449,8737678,8694767,8231732,3272163,2140056,1828073,1533624,1385623,1281863,16189514,8872303 2596 S66533,S66534,X84309,AF279774,AK123311,AK289699,AK290100,BC007936,BT019771,BT019810,BX648458,CR607941,CR612258,CR614045,CR623492,M25667,NM_002045,AC012598,AC092468,AC119795,AY842481,CH471052 AAB28649,EAW79594,CAA59050,BAF82388,BAF82789,AAH07936,AAV38576,AAV38613,AAA52516,P17677,Q5U058,Q6LB24,CAL37637,CAL38386,NP_002036,AAV88094,ABM84170,ABM87573 Hs.134974 GDB:119972 B-50|PP46 protein-coding 735871 GAPDH glyceraldehyde-3-phosphate dehydrogenase Glyceraldehyde-3-phosphate dehydrogenase catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. A GAPD pseudogene has been mapped to Xp21-p11 and 15 GAPD-like loci have been identified. 1300048,1358618,1580863 3170585,7030790,17540579,18340469,18163542,17989880,17597534,17553795,17540725,17456004,17387692,17373842,17353931,17324518,17121833,17081983,17027006,17015754,16892178,16832079,16778134,16751257,16713569,16682416,16515701,16510976,16474839,16396496,16289162,16239728,16236267,16186172,16169070,16139273,16082386,16037232,15985219,15976103,15952740,15907785,15839736,15769908,15746184,15716040,15680915,15635413,15592455,15507493,15489334,15485821,15383276,15312048,15199064,15001839,14760703,14730345,14630908,14515148,12921788,12887926,12842822,12842090,12829261,12753082,12697324,12665801,12553051,12506084,12503091,12477932,12428732,12419855,12381782,12200519,12140138,12121569,12087577,12008025,11846445,11735259,11724794,11488911,11451542,11157717,11011077,10944468,10897012,10617673,10407144,10097256,9886087,9308888,9110174,8872471,8650074,8619474,8612237,8473906,8451199,8181459,8075252,7880402,7498159,6499844,6096821,6096136,6095107,3664468,3027061,2987855,2793178,2394733,1999197,1924305,1602151,1193541,957435,16189514,15479637 1358618 2597 CR610800,CR610903,CR611246,CR611578,CR611963,CR612172,CR612181,CR612444,CR612987,CR613037,CR613402,CR613441,CR613523,CR613741,CR613888,CR614637,CR614775,CR615270,CR615400,CR615404,CR616023,CR616212,CR616276,CR616330,CR616408,CR616755,CR617399,CR617400,CR617884,CR618117,CR618557,CR619302,CR619397,CR619738,CR619742,CR620146,CR620244,CR620334,CR621621,CR621806,CR622377,CR622408,CR622647,CR623498,CR623523,CR623528,CR623561,CR623812,CR623921,CR624067,CR624316,CR624396,CR593586,CR593979,CR594180,CR594204,CR595413,CR596322,CR596633,CR597106,CR597134,CR597244,CR597330,CR597507,CR598048,CR598228,CR598336,CR598400,CR598439,CR598463,CR598468,CR598642,CR598907,CR599554,CR599595,CR599926,CR600131,CR600441,CR600506,CR600594,CR600612,CR600683,CR600937,CR601560,CR601654,CR601984,CR602408,CR602482,CR602656,CR602720,CR602731,CR603185,CR593520,NM_002046,NG_007073,AC006064,AY340484,CH471116,J04038,AB062273,AF261085,AJ844645,AK026525,AY007133,AY633612,BC001601,BC004109,BC009081,BC013310,BC020308,BC023632,BC025925,BC026907,BC029340,BC029618,BC083511,BT006893,CR407671,CR590092,CR590870,CR590910,CR591106,CR591332,CR591732,CR592035,CR592287,CR592891,CR593185,CR593307,CR603770,CR604169,CR604174,CR604219,CR604233,CR603857,CR604357,CR605432,CR606107,CR606345,CR606580,CR606887,CR608101,CR608138,CR608307,CR608308,CR608433,CR608480,CR608954,CR609371,CR609685,CR609914,CR609918,CR610242,CR610390,CR625289,CR626004,DQ403057,EF036498,J02642,M17851,M28283,M33197,X01677,X53778,CR624476 NP_002037,AAP88932,EAW88786,EAW88787,AAA53191,BAB93466,AAF99678,CAH59756,AAG01996,AAV33305,AAH01601,AAH04109,AAH09081,AAH13310,AAH23632,AAH25925,AAH26907,AAH29618,AAH83511,AAP35539,CAG28599,ABD77190,ABO65084,AAA52496,AAA86283,AAA52519,AAA52518,CAA25833,CAA37794,P04406,Q0QET7,Q16768,Q2TSD0,Q53X65,Q5D0F4,Q5ZEY3,ABM82483,ABM85670 Hs.544577,Hs.592355 GDB:119249 G3PD|GAPD|MGC88685 protein-coding 1353679 GAPDHL10 glyceraldehyde-3-phosphate dehydrogenase-like 10 2793178 389849 NG_006129,AL139811 GDB:119974 GAPDL10 pseudo 1346814 GAPDHL11 glyceraldehyde-3-phosphate dehydrogenase-like 11 2793178 645256 NG_007000,AP005241 GDB:119250 GAPDL11 pseudo 1343600 GAPDHL12 glyceraldehyde-3-phosphate dehydrogenase-like 12 2793178 2609 NG_006127,AL732579 GDB:119251 GAPDL12 pseudo 1349845 GAPDHL15 glyceraldehyde-3-phosphate dehydrogenase-like 15 2793178 642259 NG_007004,AP003120 GDB:119976 GAPDL15 pseudo 1352447 GAPDHL16 glyceraldehyde-3-phosphate dehydrogenase-like 16 2613 NG_003027,AC108104,AC108112 GDB:119253 GAPDL16 pseudo 1348752 GAPDHL19 glyceraldehyde-3-phosphate dehydrogenase-like 19 442262 NG_007007,AL035604 GAPDL19 pseudo 1348689 GAPDHL3 glyceraldehyde-3-phosphate dehydrogenase-like 3 2793178 645024 NG_006132,AC007319 GDB:119255 GAPDL3 pseudo 1345398 GAPDHL4 glyceraldehyde-3-phosphate dehydrogenase-like 4 9847074,2793178 2601 NG_003011,AC092658 GDB:119256 GAPDL4 pseudo 1625824 GAPDHL5 glyceraldehyde-3-phosphate dehydrogenase-like 5 2793178 100093717 NG_006133,AL391416 pseudo 1353166 GAPDHL6 glyceraldehyde-3-phosphate dehydrogenase-like 6 2793178 729403 XM_001726954,XM_001725661,XM_001726953,AC091231 XP_001727006,XP_001725713,XP_001727005 GDB:119977 GAPDL6 protein-coding 1346620 GAPDHL8 glyceraldehyde-3-phosphate dehydrogenase-like 8 2793178 442231 NG_006998,AL133475 GDB:119259 GAPDL8 pseudo 1346156 GAPDHL9 glyceraldehyde-3-phosphate dehydrogenase-like 9 2793178 391069 NG_006130,AL356748 GDB:119978 GAPDL9 pseudo 1346878 GAPDHP1 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 6542494,6096136 2616 NG_001123,AC091810,M26873,X01111 GDB:119260 GAPDHL2|GAPDL2|GAPDP1 pseudo 1354051 GAPDHP15 glyceraldehyde-3-phosphate dehydrogenase pseudogene 15 642317 NG_006993,AL021368 GAPDH-Lp|GAPDP15|b55C20.4 pseudo 1350609 GAPDHP2 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 170516 NG_001038,AL121782 GDB:11506063 GAPDP2|dJ585I14.1 pseudo 1354511 GAPDHS glyceraldehyde-3-phosphate dehydrogenase, spermatogenic This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. 1303348,737633,1358618,1580863 10714828,17353931,17192785,17047026,16832079,16700075,16324157,15507493,15489334,15342556,15057824,12477932,11330647,11225901,10655454,9373149,9264469,8125298,4349855,2793178 1303348,737633,1358618 26330 NM_014364,AC002389,AF216641,AJ005371,AK225727,AY306129,BC036373,BP370184 NP_055179,AAB64181,AAF87970,CAA06501,AAQ75383,AAH36373,O14556,ABM81782,ABM84936 Hs.248017 GAPD2|GAPDH-2|GAPDS|HSD-35 protein-coding 1343589 GAPDL1 glyceraldehyde-3-phosphate dehydrogenase-like 1 2793178 2598 GDB:119973 1352047 GAPDL13 glyceraldehyde-3-phosphate dehydrogenase-like 13 2610 GDB:119252 1348918 GAPDL14 glyceraldehyde-3-phosphate dehydrogenase-like 14 2611 GDB:119975 1343232 GAPDL17 glyceraldehyde-3-phosphate dehydrogenase-like 17 2614 GDB:4559296 1345775 GAPDL18 glyceraldehyde-3-phosphate dehydrogenase-like 18 369011 1351873 GAPDL2 glyceraldehyde-3-phosphate dehydrogenase-like 2 2599 XM_290433,X01111 GDB:119254 1350305 GAPDL7 glyceraldehyde-3-phosphate dehydrogenase-like 7 2604 GDB:119258 1342916 GAPDP14 glyceraldehyde-3-phosphate dehydrogenase pseudogene 14 54050 GDB:9993282 1351448 GAPDP16 glyceraldehyde-3-phosphate dehydrogenase pseudogene 16 387491 1606808 GAPVD1 GTPase activating protein and VPS9 domains 1 16410077,17545148,15324660,15302935,14702039,12477932,10819331,8889548,7566098 26130 NM_015635,AL354710,AL627223,CH471090,AA303338,AB040954,AK000126,AK021533,AK023841,AK027049,AK056493,AK096224,AL080196,AL834325,BC010027,BC013635,BC021119,BC110990,BC114937,BC114962,CB243670,CR590501,CR591882,DQ233254 NP_056450,EAW87622,EAW87623,EAW87624,EAW87625,EAW87626,EAW87627,EAW87628,EAW87629,BAA96045,BAA90959,CAB45770,CAD38993,AAH13635,AAH21119,AAI14938,AAI14963,ABB71126,Q14C86,Q5VT29 Hs.495134 DKFZP434C212|GAPEX5|KIAA1521|MGC138847|MGC138848|RAP6 protein-coding 731635 GARNL1 GTPase activating Rap/RanGAP domain-like 1 727202 16903783,15498464,15489334,15252450,15037602,14702039,12477932,12200424,10048485 727202 253959 NM_194301,NM_014990,AL137818,AL160231,AL162311,CH471078,AB020691,AK022988,AK126975,AL050050,AL834362,AY596970,AY596971,BC016305,BC042013,BC042045,DQ786317 Q9Y408,NP_919277,NP_055805,EAW65868,EAW65869,EAW65870,EAW65871,BAA74907,BAB14349,BAC86772,CAB43250,CAD39026,AAT49271,AAT49272,AAH16305,AAH42013,AAH42045,Q6GYQ0,Q9H984 Hs.113150 DKFZp566D133|DKFZp667F074|GRIPE|KIAA0884|TULIP1 tuberin-like protein 1 protein-coding 1352284 GARNL2P GTPase activating Rap/RanGAP domain-like 2 pseudogene 26134 NG_004673,AL158070,AL161627 DKFZp566D133|GARNL2|bA235C23.1 pseudo 1346418 GARNL3 GTPase activating Rap/RanGAP domain-like 3 737633 14702039,12477932,11230166 737633 84253 NM_032293,AL445222,AL450263,CH471090,AK095679,AK126704,AL136573,AL834149,BC034983 Q5JS19,Q5VVW2,Q5VVW4,NP_115669,CAH72925,CAH72927,CAI41455,CAI41457,CAI41459,EAW87654,EAW87655,EAW87656,EAW87657,EAW87658,EAW87659,BAC04605,CAB66508,CAD38860,AAH34983 Hs.29304 DKFZp434O131|DKFZp761J1523|FLJ38360|RP11-356B19.1|bA356B19.1 protein-coding 1346377 GARNL4 GTPase activating Rap/RanGAP domain-like 4 18039662,15632203,15383317,12477932,10470851 23108 NM_015085,NM_001100398,AC002316,AC005696,AC015921,AC097370,CH471108,AB028962,AJ628446,AJ628447,AK000478,AK124640,AK127021,BC037493,BE208439,BU629928,CR617475,CR627427,DN831680 NP_055900,NP_001093868,EAW90526,EAW90527,EAW90528,EAW90529,BAA82991,CAF31652,CAF31653,BAC85912,BAC86790,CAH10514,Q684P5,Q6ZT06 Hs.499659 DKFZp686O238|KIAA1039|RAP1GA3|Rap1GAP2 protein-coding 1317292 GARS glycyl-tRNA synthetase This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. 1298623,1580863 9524218,8872480,8816763,8595897,7962006,7539919,10037506,7753621,7961834,18275849,17595294,17545306,17544401,17142907,17101916,16534118,15489334,12853948,12690580,12690205,12477932,11829477 1298623 2617 NM_002047,AACC02000087,AC004976,AC005154,AC006969,CH471073,AA772440,AK074524,BC000065,BC007722,BC007755,CR594947,CR610689,D30658,U09510,U09587 NP_002038,EAL24449,AAC71652,AAS00367,EAW93960,EAW93961,AAH07722,AAH07755,BAA06338,AAA86443,AAA57001,P41250,Q75MN1,Q7Z5H0,ABM83699,ABM87020 Hs.404321 GDB:455231 CMT2D|DSMAV|GlyRS|HMN5|SMAD1 protein-coding 1318653 GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 1580863,1547842 2183217,2147474,6232198,2050105,17353931,17902044,17198385,16467096,16026156,15592455,15489334,12755606,12477932,12450384,10830953,9328467,9224613,8299947 1547842 2618 NM_000819,NM_175085,AF008653,AF008654,AP000302,AP000303,CH471079,AB208785,AF008655,AK292560,AK292897,BC038958,BC068438,BC093641,BC101565,BC107712,BX648124,CR593828,CR622715,D32051,M32082,X54199 NP_000810,NP_780294,AAB70812,AAB70813,EAX09825,EAX09826,EAX09827,EAX09828,EAX09829,BAD92022,AAB71834,BAF85249,BAF85586,AAH38958,AAH93641,AAI01566,AAI07713,BAA06809,AAA60077,CAA38119,O14660,P22102,Q15374,Q3B7A7,Q52M77,Q59HH3,Q71VH3 Hs.473648 GDB:119487 AIRS|GARS|GARTF|MGC47764|PAIS|PGFT|PRGS protein-coding 1345993 GAS1 growth arrest-specific 1 Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. 1580863 8127893,17726382,16551639,12477932,11906213,11846389,11572986,10996315,9466658,8889548,8307588,7956349,1505026,15103018 2619 NM_002048,AL158149,BC074809,BC074908,BC132682,BM661942,L13698 NP_002039,CAH71308,AAH74809,AAH74908,AAI32683,AAA72368,P54826,Q6B086 Hs.65029 GDB:141574 protein-coding 1348959 GAS2 growth arrest-specific 2 The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 1580863 9521882,1607387,15817486,15489334,15124103,12477932,11387205,10564664,3409319,1056466 2620 NM_177553,NM_005256,AC006299,AC103801,CH471064,BC013326,BC040470,CR450285,U95032 NP_808221,NP_005247,EAW68317,EAW68318,AAH13326,AAH40470,CAG29281,AAC52058,O43903,Q7Z3X8 Hs.632151 GDB:6860464 MGC32610 protein-coding 1322543 GAS2L1 growth arrest-specific 2 like 1 The protein encoded by this gene, a member of the GAS2 family, is similar in sequence to the mouse protein Gas2, an actin-associated protein expressed at high levels in growth-arrested cells. Expression of the mouse Gas2 gene is negatively regulated by serum and growth factors. Three transcript variants encoding two different isoforms have been found for this gene. 1580863 17081983,15489334,14702039,12584248,12477932,9373149,8975699,8125298,1607387,11799066 10634 NM_152236,NM_006478,NM_152237,AC002059,CH471095,Y07848,AK093386,AK122829,AK223602,AK225484,BC001782,BC007624,BC011047,BI601743,BM144477,BM803267,CR594649,CR599941,CR603618,CR614134,CR617835,Y07846 NP_689422,NP_006469,NP_689423,EAW59788,EAW59789,EAW59790,EAW59791,EAW59792,EAW59793,EAW59794,EAW59795,CAA69176,BAC04150,BAD97322,AAH01782,AAH07624,AAH11047,CAA69174,A0A5E8,Q99501 Hs.322852 GDB:9958068 GAR22|MGC17243 protein-coding 1317311 GAS2L2 growth arrest-specific 2 like 2 1580863 12584248,8889548 246176 NM_139285,AC006237,CH471147,AF508784,AF508785,CB241159 NP_644814,EAW80131,AAM34264,AAM34265,Q8NHY3,AAI48637 Hs.591194 GAR17 protein-coding 1315710 GAS2L3 growth arrest-specific 2 like 3 1580863 14702039,12477932,15489334 283431 NM_174942,AC010200,AC010209,CH471054,AK095594,BC043366 NP_777602,EAW97641,EAW97642,EAW97643,EAW97644,AAH43366,Q86XJ1 Hs.20575 protein-coding 1346877 GAS5 growth arrest-specific 5 1302234 12477932,9819378 1302234 60674 CR623807,NR_002578,AF141346,AL136170,AK025846,AL110141,BC038733,BC070486,CR595169 Hs.531856,Hs.656411 GDB:11500419 SNHG2 miscrna 736280 GAS6 growth arrest-specific 6 GAS6 is a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation 1579935,1579883,1579938,1580863,1579881,1579882 7854420,18174285,18172262,17897008,17721624,16999853,16723520,16556867,16362042,15958209,15605394,15507525,15489334,15452374,15130893,15108283,14750094,14702039,12768229,12764109,12490074,12477932,12218057,12029073,11175853,10954847,9367994,9326369,9326368,9259426,8939948,8637702,8621659,8604045,8595896,8336730,7867073 1579935,1579883,1579938,1579881,1579882 2621 NM_000820,AY170372,AY256843,BK001240,BX072579,CH471085,AK092028,AK122969,AK126533,AK290803,AL833761,BC030708,BC038984,L13720 NP_000811,AAO41859,AAO84057,DAA01155,CAH71174,EAX09226,BAC86580,BAF83492,CAH56234,AAH38984,AAA58494,Q14393,Q658L2 Hs.646346 GDB:269726 AXLLG|AXSF|DKFZp666G247|FLJ34709 growth arrest specific 6 protein-coding 1349821 GAS7 growth arrest-specific 7 Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. 1302235,1580863 9736752,15948147,15489334,12477932,11795944,10706619,9455477,9373149,8125298,7626897 1302235 8522 AK057761,AK225165,AK292987,AY327406,BC001152,BC006454,BC113835,BT006891,CR596978,CR608158,AJ224876,NM_201433,NM_201432,NM_003644,AC000003,AC005747,AC026591,AC083783,AC107938,CH471108,AB007854,AB209030,AF231997 CAA12177,BAF85676,AAP92798,AAH01152,AAH06454,AAI13836,AAP35537,O60861,Q29RX5,Q53Y77,Q59GS9,Q7Z571,ABM83728,ABM86836,NP_958839,NP_958836,NP_003635,EAW90011,EAW90012,EAW90013,BAA23690,BAD92267,AAG26331 Hs.462214 GDB:9865299 KIAA0394|MGC1348|MLL/GAS7 protein-coding 1317230 GAS8 growth arrest-specific 8 This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. 1580863 17353931,9790751,10969087,17009870,15489334,12477932,11751847 2622 NM_001481,NR_023348,AC133919,AF050068,AF050069,AF050070,AF050071,AF050072,AF050073,AF050074,AF050075,AF050076,AF050077,AF050078,CH471184,AF050079,BC036781,BC104785,BC112121,BX647947,CR594745,CR597242,CR618999,CR623468,CR749499,DC371501 NP_001472,AAC69518,EAW66658,EAW66659,EAW66660,EAW66661,AAC69519,AAI04786,AAI12122,CAH18322,O95995,Q68D98 Hs.431792 GAS11|MGC138326 protein-coding 735826 GAST gastrin Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. 1580863 7488110,18234640,17922093,17698249,17604853,17332476,17258885,17064691,17006979,16638693,16574647,16547500,16341674,16228228,16174078,15949639,15682471,15655830,15533775,15489334,15040018,14729624,14719064,14660571,14627349,12612900,12477932,12174892,12006703,11710799,11278902,11181948,11054648,10771309,9855703,9797370,9645429,9369230,8504433,8244379,8244378,8240296,8055952,7530658,6689486,6574456,6324077,6322186,6087340,5921183,5822140,3034736,3011648,2736261,2730647,871064,463490 2520 AAB19304 NM_000805,AC109319,AC130686,CH471152,K01254,M15958,X00183,BC069724,BC069762,BM768483,V00511 NP_000796,EAW60756,AAB59533,AAA52520,CAA25005,CAA25006,CAA25007,AAH69724,AAH69762,CAA23769,AAB19304,P01350 Hs.2681 GDB:119261 GAS protein-coding 731384 GATA1 GATA binding protein 1 (globin transcription factor 1) This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. 704404,1580863 2104960,2467208,2300555,18206727,18191920,17763153,17713552,17654061,17576817,17538848,17420275,17881640,17408401,17332341,17196618,17167422,17148589,16861236,16840187,16648487,16631833,16628190,16543218,16249385,16225938,16186125,16012335,15967790,15895080,15772651,15701726,15684376,15673499,15644435,15613485,15563463,15542823,15489334,15314183,15265794,15226423,15136229,15123623,14966463,14744791,14691578,14668799,14656875,14636651,14623254,14512321,12724402,12857954,12816863,12649131,12609092,12586620,12576332,12560215,12496368,12490288,12489695,12483298,12477932,12432220,12359731,12242665,12202480,12200364,12196550,12172547,12145700,12045236,11867225,11809723,11724781,11675338,11418466,10700180,10438528,10364157,9230307,8507862,7678994,7568177,1999341,12767938,11018012,16189514 2623 AF196971,CH471224,AI057349,BC009797,M30601,X17254,NM_002049 NP_002040,EAW50749,EAW50750,EAW50751,AAH09797,AAA35885,CAA35120,P15976 Hs.765 GDB:125373 ERYF1|GF-1|GF1|NFE1 gata binding protein 1 protein-coding 734291 GATA2 GATA binding protein 2 The GATA family of transcription factors, which contain zinc fingers in their DNA binding domain, have emerged as candidate regulators of gene expression in hematopoietic cells (Tsai et al., 1994 [PubMed 8078582]). GATA1 (MIM 305371) is essential for normal primitive and definitive erythropoiesis and is expressed at high levels in erythroid cells, mast cells, and megakaryocytes. GATA2 is expressed in hematopoietic progenitors, including early erythroid cells, mast cells, and megakaryocytes, and also in nonhematopoietic embryonic stem cells. In chicken erythroid progenitors, forced expression of GATA2 promotes proliferation at the expense of differentiation (Briegel et al., 1993 [PubMed 8504932]). GATA3 (MIM 131320) expression is restricted to T-lymphoid cells and some nonhematopoietic cell types, including embryonic stem cells.[supplied by OMIM] 704404,1580863 8078582,15016828,1370462,18250304,17654061,17095623,16934006,16672344,16607277,16153155,15837948,15673499,15632071,15489334,15328158,15254248,15001660,12857954,12750312,12646178,12483298,12477932,12432220,12406094,12145700,12073612,12065419,12045236,11964310,11787775,11567998,11278891,10938104,10873593,10411939,10367888,9517987,8504932,7876160,7568177,7541039,1714909,1563207,16189514 2624 BT006671,BX647499,CR621712,M68891,M77810,NM_032638,AC080005,AF169253,CH471052,BC002557,BC015577,BC015613,BC018988,BC051272,BC051342 AAP35317,AAA35868,AAA35869,P23769,Q53YE0,Q96BH0,Q96BH8,ABM83067,ABM86261,NP_116027,EAW79313,EAW79314,EAW79315,EAW79316,EAW79317,AAH02557,AAH15577,AAH15613,AAH18988,AAH51272,AAH51342 Hs.367725 GDB:133757 MGC2306|NFE1B protein-coding 733638 GATA3 GATA binding protein 3 704404,1358706,1580863 1871134,18410415,18268121,18212358,18154704,18079734,18037162,18006915,17845581,17658279,17654061,17616709,17390031,17381824,17357106,17277157,17272506,17234745,17210674,17117487,17114920,17111354,17078870,17075044,2050118,8088776,15016828,10935639,7592673,10037815,16912130,16509533,16498264,16381901,16357129,16317090,16087702,15947486,15826950,15699146,15637551,15632006,15489336,15489334,15361840,15328158,15251440,15087456,14985365,14757746,12960249,12477932,12217316,12087127,12057898,11970965,11937547,11724781,11389161,11076863,10212281,9819382,9020185,2017177,1827068,12767938,16189514 1358706 2625 NM_002051,AL390294,AY497006,CH471072,AI024501,AI686327,BC003070,BC006793,BC006839,BG287052,BM152193,M69106,NM_001002295,X55122,X58072,X55037 NP_001002295,NP_002042,CAH73143,CAH73144,AAR32096,EAW86367,EAW86368,AAH03070,AAH06793,AAH06839,AAA35870,CAA38877,CAA38916,CAA41102,P23771,Q0JV94,Q0JVL1,Q5VWG7,Q5VWG8,Q96J04,CAL37449,CAL37566 Hs.524134 GDB:132140 HDR|MGC2346|MGC5199|MGC5445 gata-binding protein 3 protein-coding 737140 GATA4 GATA binding protein 4 This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Mutations in this gene have been associated with cardiac septal defects. 1580390,704404,1580863 12845333,7791790,8455608,18076106,18055909,17912029,17805225,17643447,17584735,17548362,17403900,17352393,17290010,17253934,17211834,16823849,16470721,16341674,16337738,16159935,16137232,16110260,15810002,15666845,15653675,15585625,15542826,15389642,15337742,15235040,15153544,14984931,14702039,14612389,14583613,12907682,12775767,12606418,12606287,12530967,12530677,12477932,11994297,11724781,11585926,11481322,11297508,11158291,11003651,10948187,10790371,10728696,10446911,9927675,9568714,9312027,9207128,8978781,8007990,7721094,7665171,3413070,14578343,17592645 1580390 2626 AC069185,AC090790,CH471157,U28835,AF180736,AF318320,AK097060,AY740706,BC033672,BC068079,BC101580,BC105108,BM560562,BM768332,NM_002052,CR609988,D78260,DR003768,L34357 NP_002043,EAW65620,EAW65621,AAA70335,AAL55827,AAW51922,AAI01581,AAI05109,BAA11334,AAA58496,P43694,Q13222,Q16365,Q3MJ45,Q5IFM8,Q8WYX6 Hs.243987 GDB:433278 MGC126629 protein-coding 1354270 GATA5 GATA binding protein 5 The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. 1580863 17912029,16823849,16337738,15585625,15489334,14715527,14612389,12477932,12011060,11780052,11408257,10567378,9566909,12944489 140628 NM_080473,AL499627,CH471077,BC047790,BC117356,BC117358,CA443143 NP_536721,CAC36001,EAW75360,EAW75361,AAH47790,AAI17357,AAI17359,Q86VU4,Q9BWX5 Hs.352250 GDB:11500790 bB379O24.1 protein-coding 735650 GATA6 GATA binding protein 6 704404,1580863 8975704,15016828,18177748,17785913,17626241,17403900,17390031,17070195,16968778,16607277,16159937,16150495,16137232,16110260,15913546,15831526,15666845,15388788,12959982,12909592,12867597,12679484,12615657,12606287,12530967,12530677,12477932,11733512,11724781,10851229,9373149,9315713,9294001,8125298,12944489 2627 NM_005257,AC091588,CH471088,AK223547,BC027891,CR591851,D87811,U66075,W19304,X95701 NP_005248,EAX01137,BAD97267,AAH27891,BAA22621,AAC50941,CAA64997,Q05CA6,Q53EU2,Q92908 Hs.514746 GDB:4244630 protein-coding 1605644 GATAD1 GATA zinc finger domain containing 1 15146197,14702039,12690205,12477932,12062807 57798 NM_021167,AC000064,AC007566,CH236949,CH471091,AB073650,AK026142,AK098014,AL120665,BC019350,BC031091,BQ682550,BX106375,CA848794,CK003484,CN264754,CN406304,CR622609 NP_066990,AAB46345,EAL24150,EAW76848,EAW76849,EAW76850,EAW76851,BAB15374,AAH19350,AAH31091,Q8WUU5 Hs.21145 FLJ22489|FLJ40695|ODAG|RG083M05.2 protein-coding 1603219 GATAD2A GATA zinc finger domain containing 2A 12183469,16964243,16344560,15489334,14702039,12477932,9373149,8125298 54815 NM_017660,AC011448,CH471106,AK000092,AK024670,AK125974,AK225198,AL390164,AY186731,BC009034,BC011684,BC012902,BG773264,BU632713,DB123918 NP_060130,EAW84819,EAW84820,EAW84821,EAW84822,EAW84823,BAA90939,CAB99095,AAO31797,AAH11684,AAH12902,Q86YP4,ABZ92025 Hs.118964 FLJ20085|FLJ21017|p66alpha protein-coding 1606527 GATAD2B GATA zinc finger domain containing 2B 16415179,16964243,16710414,16344560,15489334,15302935,15231748,14702039,12477932,12183469,11756549,10574461 57459 NM_020699,AL358472,AL513523,AL592152,AL831737,CH471121,AB032976,AF411836,AI701819,AK094665,BC069419,BC112052,BC112080,DA161156 NP_065750,CAH71425,EAW53270,BAA86464,AAL39080,AAH69419,AAI12053,AAI12081,Q8WXI9,ABZ92028 Hs.4779,Hs.596854 FLJ37346|KIAA1150|MGC138257|MGC138285|P66beta|RP11-216N14.6 protein-coding 1606925 GATC glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) 16541075,15489334,14702039,12477932 283459 NM_176818,AL021546,CH471054,AK094319,BC034962,BC047778,BC064523,BC107145,BC107146,CR611665,CR612638 NP_789788,CAA16496,EAW98193,AAI07146,AAI07147,O43716,Q8IYV0 Hs.369624 15E1.2|FLJ37000|MGC129938 protein-coding 731936 GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. 1599823,1300048,1599822,1580863,70746 9373149,9266688,9165070,9148748,8313955,8125298,3800397,9218780,17101918,16820567,16769397,16614068,15978539,15489334,14702039,12709373,12701824,12477932,12468279,12324495,11555793,9915841 1599823,1599822,70746 2628 NM_001482,AC025580,CH471082,AK098055,AK098393,AK223585,BC004141,CD365153,CR601436,CR622786,DB457418,S68805 NP_001473,EAW77306,EAW77307,EAW77308,BAD97305,AAH04141,AAB29892,P50440,Q53EQ4 Hs.75335 GDB:337461 AGAT|AT protein-coding 1605219 GATS opposite strand transcription unit to STAG3 14702039,12690205,12477932 352954 NM_178831,AC005071,CH236956,CH471091,CS300729,AK055399,AK056608,AK091418,AK092358,BC044886,BC053367,BC065200,BC090867,BC100778,BC100779,BC100780,BC100781,CR749506,AK095056,AK124689,AK290039,AK290237,AK290510,AL831967,BC033723 NP_849153,EAL23844,EAL23845,EAW76562,EAW76563,EAW76564,EAW76565,CAK32393,BAB70916,BAC03870,AAH33723,AAH44886,AAH53367,AAH65200,AAH90867,CAH18327,Q496N4,Q8NAP1,Q96NI1,BAF82728,BAF82926,BAF83199 Hs.556063 DKFZp686B07267 protein-coding 1607089 GBA glucosidase, beta; acid (includes glucosylceramidase) This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein. 18022370,18434642,18332251,18264947,18160183,18078074,18074383,18030725,17875915,17713797,17703984,17702778,17689991,17620502,17574891,17462935,17427031,17187079,16996765,16981045,16861620,16830265,16790605,16781064,16476943,16344560,16329099,16148263,16086325,15982918,15967693,9040001,8937765,8907609,8889591,8889578,8829663,8829654,8790604,8780099,8694790,8432537,8294033,8188616,8118460,8112750,8076951,7916532,7627192,7627184,7613473,6885065,6816512,6455062,6091633,4003396,3864160,3863141,3687939,3547401,3472750,3456607,3359914,3353383,3001061,2914709,2295698,1974409,15954102,15857183,15610510,15591280,15525722,15517592,15517591,15489334,15322500,15146461,14994233,14757764,14728994,12972024,12803123,12792654,12754519,12667141,12587096,12482401,12477932,12434014,12360744,12360742,12359135,12173027,12107439,12048121,11933202,11708865,11584048,10744424,10649495,10527671,10447266,10360404,10352942,10340647,10079102,9851895,9705233,9683600,9650766,9637431,9554746,9554454,9516376,9331372,9279145,9225972,9217217,9182788,9153297,9061570,1972019,1899336,1698821,1594045,1572652,16223608,16189514 2629 NM_001005741,NM_001005742,NM_001005749,AL547558,AU122729,AU131071,AU140959,AU141794,BC003356,BI458641,BX382279,BX477204,BX648487,CR596605,CR609535,CR610547,CR616044,CR618224,D13286,K02920,M16328,NM_001005750,NM_000157,AF023268,AL713999,CH471121,J03059,M18916,M18917,M20248,M20282,AK291911,M19285 NP_001005741,NP_001005742,NP_001005749,BAF84600,AAH03356,BAA02545,AAA35877,AAA35873,NP_001005750,NP_000148,AAC51820,CAI95090,EAW53100,EAW53101,EAW53102,EAW53103,AAC63056,AAA35878,AAA35879,AAA35874,AAA35875,AAA35876,AAA35880,P04062,Q05C18,Q569G9,Q9BWE2,Q9UQU9 Hs.282997 GDB:119262 GBA1|GCB|GLUC protein-coding 1313721 GBA2 glucosidase, beta (bile acid) 2 This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. 1580863 2541446,2187500,12560567,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,11489889,17105727,15489334,15164053,14702039,12477932,10997877,9111029,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563 57704 NM_020944,AL133410,CH471071,AB046825,AF258662,AJ309567,AK027884,AK057610,AL834306,BC011363 NP_065995,CAI10981,CAI10982,CAI10983,EAW58345,EAW58346,EAW58347,EAW58348,EAW58349,BAB13431,AAG44660,CAC83792,BAB55430,BAB71534,CAD38976,AAH11363,Q9HCG7 Hs.443134 GDB:11510048 AD035|DKFZp762K054|KIAA1605|MGC16895 protein-coding 1319930 GBA3 glucosidase, beta, acid 3 (cytosolic) GBA3, or cytosolic beta-glucosidase (EC 3.2.1.21), is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside, but not any known physiologic beta-glycoside, suggesting that it may be involved in detoxification of plant glycosides (de Graaf et al., 2001 [PubMed 11389701]). GBA3 also has significant neutral glycosylceramidase activity (EC 3.2.1.62), suggesting that it may be involved in a nonlysosomal catabolic pathway of glucosylceramide metabolism (Hayashi et al., 2007 [PubMed 17595169]).[supplied by OMIM] 1580863 11389701,17595169,17555766,15489334,15322500,12667141,12594539,12477932,11784319,11043382,9373149,8125298,8093218,3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,12560567,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345 57733 NM_020973,AC093917,CH471069,AB017913,AF317840,AF323990,AJ278964,AK222963,AK292746,BC029362,BC070188,BC101829,BC109377,BC136264 NP_066024,EAW92802,EAW92803,BAB18741,AAG39217,AAL37305,CAC08178,BAD96683,BAF85435,AAH29362,AAH70188,AAI01830,AAI09378,AAI36265,Q32LY7,Q9H227 Hs.653107 CBGL1|GLUC|KLrP|MGC104276|MGC126878 protein-coding 1353690 GBAP glucosidase, beta; acid, pseudogene 16344560,14702039,12477932,12180141,11381033,9331372,8751878,8294033,2914709,2295698,1698821,1572652 2630 NR_002188,XR_042183,AF023268,AF267177,AL713999,J03060,AK090514,BC000349,BC030240,BC062626,BC092482,CR606706,D13287,DB192327 AAH00349,AAH30240,AAH92482 Hs.282997 GDB:119979 MGC104662|MGC40022|MGC8614 pseudo 1345241 GBAS glioblastoma amplified sequence Chromosomal region 7p12, which contains GBAS, is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system tumor.The predicted 286-amino acid protein contains a signal peptide, a transmembrane domain, and 2 tyrosine phosphorylation sites. The GBAS transcript is expressed most abundantly in heart and skeletal muscle. GBAS protein might be involved in vesicular transport. 1580863 9615231,16381901,15489336,15489334,14702039,12477932,11076863,9661659 2631 NM_001483,AC092579,CH471140,AF029786,AJ001259,AK097049,AK125036,BC000732,BC001837,BC030821,BT007112,CR407612,CR614934 NP_001474,EAX07966,EAX07967,AAC29002,CAA04633,AAH00732,AAH01837,AAH30821,AAP35776,CAG28540,O75323,Q53X96,CAL37716,ABM83235,ABM86434 Hs.591069 GDB:9411527 NIPSNAP2 protein-coding 1320598 GBE1 glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) This monomeric enzyme functions in glycogen symthesis by catalyzing the formation of alpha 1,6- glucosidic linkages. It is most highly expressed in liver and muscle. Deficiency can result in glycogen storage disease IV (Andersen's disease). 1580863,1601279 15019703,14702039,14557872,12477932,8613547,17994551,17915577,16254601,15592455,15489334,15452297,10762170,10545044,10533307,10384399,9851430,8463281,8059607,6220706 1601279 2632 NM_000158,AC017015,AC025029,AC099049,CH471110,AB209731,AK125918,BC012098,BE614098,BM509929,L07956 NP_000149,EAW68879,EAW68880,BAD92968,AAH12098,AAA58642,Q04446,Q59ET0,ABW03793 Hs.436062 GDB:138442 GBE protein-coding 1316187 GBF1 golgi-specific brefeldin A resistance factor 1 1580863 17956946,10402461,17353931,16956762,11031247,18287014,18203920,18084281,18063581,17666033,17429068,17329336,17079330,16926190,16565220,16318580,15813748,15616190,15489334,15345747,15324660,15302935,15164054,12646181,12634853,12477932,12168954,12047556,9828135,9039502 8729 NM_004193,AL121928,AL160011,AL356420,CH471066,AF068755,AK024916,AK025153,AK025330,BC007941,BC014171,BC032543,BC094763,BC117681,BC117682,D87435 NP_004184,CAH71625,CAH72761,EAW49707,AAD15903,AAH07941,AAH14171,AAH32543,AAH94763,AAI17682,AAI17683,BAA13379,Q05BW6,Q149P0,Q149P1,Q504U7,Q92538 Hs.290243 GDB:9785357 FLJ21263|FLJ21500|KIAA0248|MGC134877|MGC134878 protein-coding 1351614 GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 This gene encodes a member of the histo-blood group ABO gene family that encodes glycosyltransferases with related but distinct substrate specificity. This protein plays a role in synthesizing Forssman glycolipid (FG), a member of the globoseries glycolipid family. Human cells do not normally produce FG but produce the precursor glycolipids globotriaosylceramide and globoside. This protein may be involved in the tropism and binding of pathogenic organisms. 1580863 10506200,15489334,15164053,14702039,12975309,12477932,12107410,8855242 26301 NM_021996,AL162417,CH471090,DQ145941,AK074639,AK074944,AK291498,AY358175,BC032499,CA397865,CR622726 NP_068836,CAI13418,CAI13419,CAI13420,CAI13421,EAW88043,EAW88044,EAW88045,EAW88046,EAW88047,AAZ38721,BAC11106,BAF84187,AAQ88542,AAH32499,Q8N5D6 Hs.495419 A3GALNT|FS|MGC44848|RP11-326L24.6|UNQ2513 protein-coding 736229 GBL G protein beta subunit-like 1626104 14702039,12718876,12477932,11182770,15854902 1626104 64223 AC009065,CH471112,AF195883,AK021536,AK022227,AK098762,AY223837,BC001313,BC017119,BC020499,BC052292,BC088354,BI761765,BQ014640,CR591683,CR596002,CR596334,CR596651,CR599293,CR599764,CR602887,CR603025,CR604093,CR605614,CR605693,CR610557,CR610748,CR610797,CR613800,CR613836,NM_022372,CR617593,CR618215,CR621798,CR625821 NP_071767,EAW85537,EAW85538,EAW85539,EAW85540,EAW85541,EAW85542,AAF04308,BAB13990,AAO73410,AAH01313,AAH17119,AAH20499,AAH52292,AAH88354,Q9BVC4,ABM82537,ABM85729,ABW03392 Hs.29203 MGC111011 protein-coding 1323562 GBP1 guanylate binding protein 1, interferon-inducible, 67kDa Guanylate binding protein expression is induced by interferon. Guanylate binding proteins are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP) and are distinguished from the GTP-binding proteins by the presence of 2 binding motifs rather than 3. 1580863 1715024,18260761,16936281,16894355,16873363,16511497,16005050,15937107,15504415,15489334,14741045,12881412,12766061,12543931,12488461,12477932,12414522,11598000,11397834,10676968,10383748,8830800,7518790 2633 NM_002053,AL160008,CH471097,AB208912,AK291783,AY920436,BC002666,BF058809,BT006847,CB164272,CD676970,CR591787,M55542 NP_002044,CAI22972,EAW73148,EAW73149,EAW73150,BAD92149,BAF84472,AAX13805,AAH02666,AAP35493,AAA35871,P32455,Q59H47,Q5D1D5,Q5T8M1,ABM81685,ABM84850 Hs.62661 GDB:378351 protein-coding 736152 GBP2 guanylate binding protein 2, interferon-inducible Interferons are cytokines that have antiviral effects and inhibit tumor cell proliferation. They induce a large number of genes in their target cells, including those coding for the guanylate-binding proteins (GBPs). GBPs are characterized by their ability to specifically bind guanine nucleotides (GMP, GDP, and GTP). The protein encoded by this gene is a GTPase that converts GTP to GDP and GMP. 1580863 1715024,17517895,14702039,12477932,12447867,12107410,11096456,9373149,8723115,8706832,8125298 2634 AC104459,CH471097,AI400402,AK002150,AK057968,AK122866,AK226018,BC022272,BC073163,CA390345,CR457062,CR599314,M55543,NM_004120 NP_004111,EAW73146,AAH22272,AAH73163,CAG33343,AAA67323,P32456,Q6GPH0,Q6IAU2,Q8TCE5 Hs.386567 GDB:378363 protein-coding 1349801 GBP3 guanylate binding protein 3 This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. 16710414,15489334,14702039,12477932,12387898,8889548,7518790 2635 NM_018284,AL139416,AL160008,CH471097,AK001823,AL136680,BC017992,BC063819,BC140837,BU678920,CR609615,CR936755,CR936758 NP_060754,CAI21697,CAI21698,CAM28262,CAI22970,CAI22971,CAM28327,EAW73151,EAW73152,EAW73153,BAA91927,CAB66615,AAH17992,AAH63819,AAI40838,Q05D54,Q5T8L7,Q9H0R5 Hs.62661 GDB:378356 DKFZp686E0974|DKFZp686L15228|FLJ10961 protein-coding 1321567 GBP4 guanylate binding protein 4 1580863 16689661,12477932,9659399 115361 NM_052941,AC104459,CH471097,AF288814,AK131094,AL832576,BC008421,BC017889,BC050625,BC070055 NP_443173,EAW73142,EAW73143,EAW73144,AAL02054,BAC85144,CAD89936,AAH17889,AAH70055,Q05D63,Q6NSL0,Q96PP9 Hs.409925 Mpa2 protein-coding 1322285 GBP5 guanylate binding protein 5 1580863 18260761,16189514,15489334,15175044,14996095,12975309,12477932 115362 AC099063,CH471097,AF288815,AF328727,AF430642,AF430643,AK090479,AL832285,AY358953,BC031639,BC033761,NM_052942 NP_443174,EAW73141,AAL02055,AAO40731,AAN39035,AAN39036,BAC03460,AAQ89312,AAH31639,AAH33761,Q86TM5,Q8N4Q4,Q8NF03,Q96PP8,ABM86576,ABW03667 Hs.513726 GBP-5 protein-coding 1354251 GBP6 guanylate binding protein family, member 6 16381901,16344560,15489336,14702039,11256614,11230166,11076863 163351 NM_198460,AL691464,CH471097,AI199897,AK096454,AK131329,AK131356,AK290303,BC131713,BX537949,BX647907,DA437660,DA447005 NP_940862,CAI22141,EAW73139,BAD18489,BAD18509,BAF82992,AAI31714,CAD97917,Q6ZN66,CAL37463,AAI46700 Hs.254338 DKFZp686G0786|FLJ39135 protein-coding 1601687 GBP7 guanylate binding protein 7 14702039 388646 NM_207398,AC104459,CH471097,AK096141 NP_997281,EAW73145,BAC04709,Q8N8V2,AAI56124,AAI57016 Hs.591450 FLJ38822|GBP4L protein-coding 1352199 GBX1 gastrulation brain homeobox 1 1580863 16597639,12853948,8097731,7903253 2636 NM_001098834,XR_016648,XR_018045,XR_018491,AC010973,L11239,X59519 NP_001092304,AAA36002,Q14549,Q9UD61,AAI60003 Hs.647114 GDB:9413231 protein-coding 1348762 GBX2 gastrulation brain homeobox 2 1334477,1334478,1580863 9346236,8838315,17060451,15931389,15815621,10690529,9537237,7903253 1334477,1334478 2637 NM_001485,AC079135,CH471063,U02080,U31468,AF118452,BC137448,BC137449,BF115559 NP_001476,AAX93240,EAW71084,AAA17406,AAC03241,AAD39907,AAI37449,AAI37450,P52951 Hs.184945 GDB:9413233 gastrulation brain homeo box 2 protein-coding 736902 GC group-specific component (vitamin D binding protein) The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. 1331525,1580863 12119014,1696927,14718574,17785430,17763400,17763397,17763387,17428459,17342072,17244366,17113648,16684836,16648359,16600026,16309986,16269129,16115686,15866120,15717311,15648851,15607028,15485893,15230135,15115254,15059409,14987123,14718422,14523999,12968673,12947140,12942785,12938159,12580408,12554937,12477932,12452439,12189808,12062854,12051678,12050214,12048248,11799400,11785295,11757623,11717447,11436564,9373149,8786133,8495753,8381387,8325650,8324227,8125298,7759070,7725672,7703225,7606167,7505619,7026425,4054306,3936035,3552627,3015768,2958390,2824652,2423133,2416779,2415977,2415926,1602151,1535333,1374401,1352271,558959,218624 1331525 2638 X03178,NM_000583,CR598362,CR598387,CR599900,CR600650,CR600738,CR601461,CR602970,CR597042,CR604515,CR605798,CR606955,CR611556,CR612125,CR615226,CR615455,AC024722,CH471057,L10641,M17156,S54074,S67480,S77129,S77130,AK223458,AK290827,AK315853,BC022310,BC057228,CR589987,CR591437,CR591786,CR592599,CR593132,CR615579,CR618111,CR622285,CR623633,CR624576,CR625283,CR625359,CR626806,M12654 AAA52173,CAA26938,P02774,Q53F31,Q6GTG1,Q6LDC6,NP_000574,EAX05645,AAA61704,AAA19662,AAD13872,AAB29423,AAD14249,AAD14250,BAD97178,BAF83516,BAF98744,AAH57228 Hs.418497 GDB:119263 DBP|DBP/GC|VDBG|VDBP protein-coding 1315291 GCA grancalcin, EF-hand calcium binding protein This gene product, grancalcin, is a calcium-binding protein abundant in neutrophils and macrophages. It belongs to the penta-EF-hand subfamily of proteins which includes sorcin, calpain, and ALG-2. Grancalcin localization is dependent upon calcium and magnesium. In the absence of divalent cation, grancalcin localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions, suggesting a role for grancalcin in granule-membrane fusion and degranulation. 1580863 1530588,18285833,18071670,16713569,15815621,15489334,12804766,12477932,11717497,11279160,10903868,9441591,1737748,16189514 25801 NM_012198,AC010876,CH471058,AB209768,BC005214,CR616777,M81637 NP_036330,AAX93138,EAX11350,EAX11351,BAD93005,AAH05214,AAA58498,P28676 Hs.377894 GDB:131646 GCL protein-coding 1316396 GCAT glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase) The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. 1580863 10712613,15489334,12477932,12174908,10591208,3536927 23464 NM_014291,CH471095,Z97630,AF077740,AK123190,AK290093,BC014457,CR603831 NP_055106,EAW60189,EAW60190,CAB42830,AAC27720,BAC85552,BAF82782,AAH14457,O75600,Q6ZWF1 Hs.54609 GDB:9956594 KBL|MGC23053 protein-coding 1342777 GCATP glycine C-acetyltransferase pseudogene 319140 NG_002517,AL136038 pseudo 1352654 GCC1 GRIP and coiled-coil domain containing 1 The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. 1580863 16189514,17914056,16713569,15654769,15489334,14702039,12690205,12477932,12446665,10209125,12972563 79571 NM_024523,AC000357,CH236947,CH471070,AF525417,AK025688,AK092878,AL832833,BC008902,BC014100,BC078665 NP_078799,EAL24321,EAW83628,EAW83629,AAM91948,BAB15218,AAH08902,AAH14100,AAH78665,Q96CN9 Hs.521168 GDB:11510050 FLJ22035|GCC1P|GCC88|MGC20706 protein-coding 1605713 GCC2 GRIP and coiled-coil domain containing 2 The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 16964243,18243103,17488291,16885419,15815621,15654769,15522892,15489334,14702039,12477932,12446665,12200376,11149944,10508479,9205841,12972563 9648 NM_181453,NM_014635,AC012487,AC068941,CH471182,AB002334,AF273042,AF432211,AK090813,BC020645,BC037774,BC146789 Q8IWJ2,NP_852118,NP_055450,AAX88838,EAW53882,EAW53883,EAW53884,BAA20794,AAG34902,AAL99918,AAH20645,AAH37774,AAI46790 Hs.708049 GCC185|KIAA0336 protein-coding 1318826 GCDH glutaryl-Coenzyme A dehydrogenase The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 8541831,17176108,16368216,16344560,15985591,15489334,15274622,15057824,12477932,11705404,10985795,10960496,10699052,9711871,9600243,8900228,8900227,8088809,7795610,7490088,3081514,1438360 2639 CR610003,CR612140,CR615192,CR618805,CR621071,CR622862,CR623936,CR626122,S77773,U69141,NM_000159,NM_013976,AD000092,AF012342,CH471106,AK098370,AK290407,AU135567,BC002579,BT006706,CR591108,CR593626,CR599782,CR600877 AAB34724,AAB08455,Q36741,Q92947,NP_000150,NP_039663,AAB51174,AAC52079,EAW84324,EAW84325,EAW84326,BAF83096,AAH02579,AAP35352 Hs.532699 GDB:136004 ACAD5|GCD protein-coding 1343482 GCET2 germinal center expressed transcript 2 This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. 14702039,12819018,12509382,12477932,15677569,15591113,15489334 257144 Q8N6F7 NM_001008756,NM_152785,AC128688,CH471052,AA237025,AF521911,BX280641,CR625820,AK125521,AW576133,AY212246,BC030506 NP_001008756,NP_689998,EAW79680,AAO21701,Q8N6F7,AAO22147,AAH30506 Hs.49614 GCAT2|HGAL|MGC40441 protein-coding 1345642 GCF1 growth control factor 1 2640 GDB:119264 68970 GCG glucagon The protein encoded by this gene is actually a preproprotein that is cleaved into four distinct mature peptides. One of these, glucagon, is a pancreatic hormone that counteracts the glucose-lowering action of insulin by stimulating glycogenolysis and gluconeogenesis. Glucagon is a ligand for a specific G-protein linked receptor whose signalling pathway controls cell proliferation. Two of the other peptides are secreted from gut endocrine cells and promote nutrient absorption through distinct mechanisms. Finally, the fourth peptide is similar to glicentin, an active enteroglucagon. 1580863 9990065,10861272,8538742,12626323,7929237,18223636,18198306,18180317,18080106,17944883,17901057,17846745,17724330,17688385,17611265,17609256,17344652,17324423,17290009,17164779,17160672,17141269,16988001,16828127,16787987,16563563,16401467,16362283,16202636,16201096,16153418,16142014,16132964,16131602,16125528,15983224,15899957,15897480,15821104,15815621,15671479,15664668,15616022,15533774,15489334,15111524,15002062,14988249,14719035,14632334,14608103,14557443,14522730,14517773,12960095,12810581,12736145,12651102,12627948,12554744,12540594,12524435,12519856,12477932,12459036,12436337,12387900,12174892,11972291,11961492,11946536,11943215,11738243,11375130,11278902,11116211,10990079,10605628,10322410,9667960,9287128,8482423,8382034,7340337,6877358,6546710,3725587,2901414,3569278,2753890,16189514 2641 NM_002054,AC007750,CH471058,V01515,X03991,X05387,AI818268,BC005278,BT006813,J04040,X05388 NP_002045,AAY24204,EAX11356,EAX11357,EAX11358,CAA24759,CAA27627,AAH05278,AAP35459,AAA52567,P01275,ABM83447,ABM86658 Hs.516494 GDB:119265 GLP1|GLP2|GRPP protein-coding 69010 GCGR glucagon receptor The physiologic effects of glucagon (GCG; MIM 138030) are mediated through the glucagon receptor, a member of the superfamily of receptors characterized by a 7-transmembrane domain structure and by their coupling via GTP-binding proteins (G proteins) to adenyl cyclase.[supplied by OMIM] 704404,1580863,1625208 8144028,7773293,12626323,8563746,17374560,15489334,12724331,12536714,12477932,11961492,11707539,11692154,9105899,8382034,8020989,7589886,7507321,6303843,1908089,165216,15188402 1625208 2642 NM_000160,AC145207,CH471099,L24751,BC104854,BC112041,L20316,U03469 NP_000151,EAW89684,AAA35897,AAI04855,AAI12042,AAA53628,AAC52063,P47871 Hs.208 GDB:304516 GGR|MGC138246 2289501,2289511 BW444_H,BW453_H protein-coding 1345739 GCH1 GTP cyclohydrolase 1 (dopa-responsive dystonia) This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. 1580863,1601280,1601281 8702680,16696853,18202219,18044725,17898029,17804835,17717598,17655760,17557242,17410324,17407085,17363416,17343757,17111153,16643317,16267845,16149046,15909293,15852365,15753436,15679701,15604419,15489334,15303002,14551046,12925450,12821132,12477932,12391354,11956954,11937441,11580249,11486899,11359069,11284739,11113234,11087827,10987649,10825351,10732814,10582612,10208576,10078749,10076897,9778264,9667588,9576537,9445252,9222755,8957022,8889548,8852666,8695054,8666288,8298648,8068008,7874165,7802677,7730309,7501255,1520321,1482676 1601280,1601281 2643 NM_000161,NM_001024071,NM_001024070,NM_001024024,AL133444,AL160471,CH471061,D38602,D38603,L29478,U19259,BC025415,BM971258,CR536551,CR589979,S43856,S44049,S44053,U19523,U66095,U66097,Z16418,Z29433,Z29434,Z30952,AF321276,AY137463,AY137464,AY137465 NP_000152,NP_001019242,NP_001019241,NP_001019195,EAW80647,EAW80648,EAW80649,EAW80650,EAW80651,EAW80652,EAW80653,AAB42186,AAH25415,CAG38788,AAB23166,AAB23164,AAB23165,AAB16861,AAD38866,AAD38868,CAA78908,CAB77391,CAB77392,P30793,Q6FHY7,Q8IZH7,Q8IZH8,Q8IZH9,Q96T74,ABM83924,ABM87244,AAB60633,CAA83213,AAK51704,AAN17459,AAN17460,AAN17461 Hs.86724 GDB:118798 DYT5|GCH|GTP-CH-1|GTPCH1 protein-coding 1349515 GCHFR GTP cyclohydrolase I feedback regulator GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. 728623,1580863 8702680,17135716,17101830,16778797,15649650,15489334,12607127,12477932,11799107,11580249,9373149,9092499,8125298,1286669 728623 2644 NM_005258,AC012476,CH471125,U78190,AK223430,BC112262,BC112264 NP_005249,EAW92442,EAW92443,AAB37337,BAD97150,AAI12263,AAI12265,P30047,Q53F59 Hs.631717 GDB:5195865 GFRP|HsT16933|MGC138467|MGC138469|P35 protein-coding 735697 GCK glucokinase (hexokinase 4) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). 1580863,704404,1582633,1581880,1598592,1601292,1601295,1601296,1601294,1581877,1300048,1601293 8446612,12941786,16173921,8325892,8132752,8878425,10601273,14627435,18483479,18450771,18332101,18271687,18196929,18184897,18159847,18039179,18008060,17937063,17584736,17573900,17561510,17389332,17327436,17260972,17216282,17186458,17186219,17082186,17070428,16963153,16936201,16752173,16639597,16632067,16444761,16378108,16331569,16186409,15987895,15928245,15918042,15841481,15677518,15677479,15489334,15305805,15277402,15173029,15009676,14747279,14578306,14517946,12690205,12627330,12515438,12477932,12442280,12101177,12050210,11914755,11772903,11756407,11522786,11473043,11440371,11372010,11237213,11112984,11106831,10694920,10588527,9662401,9469993,9435328,9270716,9049484,9000692,8626423,8549853,14702039,8495817,14617577,8454109,8433729,8376578,8194664,8168652,8094164,8094163,1871135,1740342,1740341,1612194,1570017,1545870,1511800,1502186,1464666,1397713,1360036,1354840,1349989,1303265 1582633,1581880,1598592,1601292,1601295,1601296,1601294,1581877,1601293 2645 NM_000162,NM_033507,NM_033508,AC006454,AF041013,AF041014,AF041022,CH236960,CH471128,M90298,AK122876,BC001890,BT007062,CR626628,EU008605,M69051,M88011,M90299 NP_000153,NP_277042,NP_277043,AAB97681,AAB97682,AAB97680,EAL23764,EAL23765,EAL23766,EAW61114,EAW61115,EAW61116,AAA67541,AAA67542,AAH01890,AAP35711,ABS31137,AAB59563,AAA51824,AAA52562,P35557,Q53Y25,ABM84761 Hs.1270 GDB:127550 GK|GLK|HHF3|HK4|HKIV|HXKP|MODY2 glucokinase protein-coding 69130 GCKR glucokinase (hexokinase 4) regulator This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). 1598592,1580863,1626607 8662230,11522786,10601273,14627435,18439548,18193043,18008060,17828387,17186219,17082186,16401311,15815621,12739015,11756407,11473043,10588736,9570959,9000692,8626423,8589523,7508874 1598592,1626607 2646 NM_001486,AC074117,AY320034,CH471053,Y09592,Z48476,Y09593,AK291846,BC130481,BC130483,Z48475 NP_001477,AAY14850,AAP72013,EAX00568,CAA70779,CAB61828,BAF84535,AAI30482,AAI30484,CAA88367,Q14397 Hs.89771 GDB:207312 GKRP glucokinase regulatory protein protein-coding 736793 GCLC glutamate-cysteine ligase, catalytic subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. The gene encoding the catalytic subunit encodes a protein of 367 amino acids with a calculated molecular weight of 72.773 kDa and maps to chromosome 6. The regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Deficiency of gamma-glutamylcysteine synthetase in human is associated with enzymopathic hemolytic anemia. 1302514,1302515,1580863,1300048 24639,9675072,9841880,8104187,11972604,16183645,10439045,16491484,16403949,16322067,15489334,15485876,15451055,14702039,14676828,14574404,12500194,12477932,12070177,11844594,11820781,11444867,10733484,10515893,8995480,8825659,7789189,7726839,5058793,1350904,2294991,12663448,10395918,12598062,18420959,18066575,18035085,17961430,17921251,17643973,17479437,17344309,17333241,17207022,17109620,16766924,16690975,16599007 1302514,1302515 2729 NM_001498,AF118846,AL033397,AY780794,CH471081,L39773,AB262176,AK094940,BC022487,BC039894,BG700922,BG704750,M90656 NP_001489,AAD18031,AAV31778,EAX04425,EAX04426,AAC41751,BAE97618,AAH22487,AAH39894,AAA58499,P48506,Q14TF0 Hs.654465 GDB:132915 GCS|GLCL|GLCLC glutamate-cysteine ligase catalytic subunit protein-coding 731551 GCLM glutamate-cysteine ligase, modifier subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. 1580863,1300048 9841880,16183645,9675072,17353931,9895302,10395918,12081989,12975258,18449862,18066575,17961430,17924854,17643973,17548779,17344309,17333241,16909399,16766924,16710414,16677451,16599007,16081425,15946948,15489334,15451055,14532974,12477932,10674357,9841137,8978789,8825659,7829101,7826375 2730 BQ224592,BU600458,C17598,C18245,C18878,C18959,C19097,CB114258,CB128427,CK818048,CR541833,D63311,L35546,R69169,BQ049850,NM_002061,AL049796,AL117351,AY382196,AY773965,CH471097,AK290449,BC041809,BE269549,BE866085,BF031933,BF213407,BF219130,BF246042,BF541340,BF541441,BF698337,BG291243,BG547387,BI497338,BM468805 CAG46632,AAA65028,P48507,Q5YKL1,NP_002052,AAR29001,AAV28733,EAW73059,EAW73060,EAW73061,EAW73062,BAF83138,AAH41809 Hs.315562 GDB:448904 GLCLR glutamate cysteine ligase, modifier subunit protein-coding 1348704 GCM1 glial cells missing homolog 1 (Drosophila) This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. 1580863 15385555,8962155,16004993,15640526,15489334,15135239,15081636,14574404,12477932,12397062,11071865,10858268,10542267,17646165,16594548,16528103,16166624 8521 NM_003643,AB041716,AB047819,AL512347,CH471081,AB026493,AB041714,BC096288,BC096289,D88613 NP_003634,BAA94758,BAB18039,CAI14905,EAX04412,BAA77250,BAA94757,AAH96288,BAA13651,Q9NP62 Hs.28346 GDB:9955543 GCMA|hGCMa protein-coding 1322420 GCM2 glial cells missing homolog 2 (Drosophila) This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. 1598942,1580863 15863676,15728199,9928992,15657585,15489334,14715818,14574404,12477932,12354132,10343099 1598942 9247 NM_004752,AL024498,AL357497,AF079550,AF091149,AI028145,BC069603,BC117316,BC117318 NP_004743,CAI20518,CAI16225,AAC33792,AAC98097,AAH69603,AAI17317,AAI17319,O75603 Hs.227098 GDB:9955533 GCMB|hGCMb protein-coding 1312843 GCN1L1 GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1580863 17353931,9234705,16541075,15635413,15489334,12477932,12168954,11790298,9039502,14743216 10985 NM_006836,AC004263,AC004812,CH471054,BC021129,BC032335,BC040172,BC046177,BC064346,BC153881,BQ929459,BU186578,CR607697,D86973,U77700,U88836,U88837 NP_006827,AAC83183,EAW98167,EAW98168,EAW98169,AAH21129,AAH32335,AAH46177,AAH64346,AAI53882,BAA13209,AAC51648,AAD00655,AAD00656,Q92616 Hs.298716 GDB:9785239 GCN1|GCN1L|KIAA0219 protein-coding 1316319 GCN5L2 GCN5 general control of amino-acid synthesis 5-like 2 (yeast) 1580863 12887892,8552087,18250157,17967894,17301242,16260778,15715965,15592455,14657027,14767476,12660246,12477932,12391296,12374802,12154097,11956210,11931763,11564863,11438666,11406595,11384967,11090279,10747963,10611234,10373431,9742083,9722949,9611240,9488450,9073520,8972232,8684459,7670491,10022868,11839798 2648 NM_021078,AC105024,CH471152,U57316,AF029777,BC032743,BC039907,BC105977,CR595219,DB497139 NP_066564,EAW60801,EAW60802,EAW60803,AAC50641,AAC39769,AAH32743,AAH39907,AAI05978,Q92830 Hs.463045 GDB:5195863 GCN5|KAT2A|MGC102791|PCAF-b|hGCN5 protein-coding 1351431 GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 1329093,17947642,17530395,16778138,16344560,16179912,15932919,15926890,15882971,15591039,15483269,15342556,15026421,12765965,12626388,12600830,12477932,9915862,9278427,8449405,7579796 2650 NM_001490,NM_001097633,NM_001097635,NM_001097636,AL161626,AL590664,CH471089,L41390,L41415,AI445628,AJ420416,AL832647,AY196293,AY196294,AY196295,AY196296,AY196297,BC074885,BC074886,BC109101,BC109102,NM_001097634,BP359964,CR614116,DA479942,M97347 NP_001091103,NP_001481,NP_001091102,NP_001091104,NP_001091105,CAI39746,EAW62580,AAA96661,CAD89956,AAH74885,AAH74886,AAI09102,AAI09103,AAA35919,Q02742,Q6DJZ4,Q86T81 Hs.521568 GDB:135991 C2GNT|C2GNT-L|C2GNT1|G6NT|MGC126335|MGC126336|NACGT2|NAGCT2 protein-coding 1350573 GCNT1P glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase) pseudogene 8748164 170517 NG_001039,AL121893,L42230 GDB:11506065 bA189K21.2 pseudo 1607088 GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. 8449405,9134435,17855628,15882971,15489334,15161861,14702039,14672974,12477932,12468428,12424189,12244172,11739194,9915862,9417921,9405606,7579796,2791656,438154 2651 AF458024,AF458025,AF458026,AF458027,AF458028,AF458029,AF458030,AK090483,AK098105,AK291195,AK291767,AL832714,AL832719,AY435145,AY435147,BC074801,BC074802,BC130524,BX503586,AL139039,AL358777,CH471087,L41605,L41607,AB078432,AB078433,AF401652,AF401653,BX647576,BX647668,L19659,Z19550,AY435146,NM_145649,NM_001491,NM_145655,NG_007469 AAL50562,AAM73864,AAM73865,AAM73866,AAM73867,AAM74524,AAM73869,AAM73870,BAC03464,BAC05234,BAF83884,BAF84456,AAR95646,AAR95647,AAR95648,AAH74801,AAH74802,AAI30525,Q8WXK7,CAH73010,CAI13997,CAI13999,EAW55259,EAW55260,EAW55261,EAW55262,AAA99832,BAC66781,BAC66782,AAL50561,CAI46081,AAA81777,CAA79610,Q06430,Q08M29,Q5T4J1,Q5W0E9,Q5W0F0,Q6T5E5,Q8N0V5,Q8N7N7,Q8NFS5,Q8NFS6,Q8NFS7,Q8NFS8,Q8NFS9,Q8WXK6,NP_663624,NP_001482,NP_663630 Hs.519884 GDB:215361 CCAT|GCNT2C|GCNT5|IGNT|II|MGC163396|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1 protein-coding 1344597 GCNT3 glucosaminyl (N-acetyl) transferase 3, mucin type This enzyme catalyzes O-glycan branch synthesis of the core 2 and core 4 type in mucins and controls expression of core 2 branched oligosaccharides and I antigens on the cell surface. 1580863 9988682,17303715,16418723,12600830,12477932,9915862 9245 NM_004751,AC092755,CH471082,AF038650,AF102542,BC017032,EF152283 NP_004742,EAW77571,EAW77572,AAD21525,AAD10824,AAH17032,ABM21534,O95395 Hs.194710 GDB:9955530 C2/4GnT|C2GnT-M|C2GnT2|GnT-M protein-coding 1602489 GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase) 10753916 51301 AC093259,CH471084,AF132035,NM_016591 NP_057675,EAW95751,AAF63156,Q9P109 Hs.272404 C2GNT3 protein-coding 1342918 GCNT6 glucosaminyl (N-acetyl) transferase 6 644378 XM_927529,XM_938492,XM_001718537,AL358777 XP_932622,XP_943585,XP_001718589,CAI13998,Q5T4J0 bA421M1.3 protein-coding 1354424 GCNT7 glucosaminyl (N-acetyl) transferase family member 7 140687 XM_001723344,XM_001723312,XM_001723681,AL109806,AK131203 XP_001723396,XP_001723364,XP_001723733,CAC03741,BAD18395,Q6ZNI0 Hs.655916 GDB:11505058 C20orf105|dJ1153D9.2 chromosome 20 open reading frame 105 protein-coding 732423 GCS1 glucosidase I This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. 704404 3264072,3099781,2829950,1736542,1704656,11530211,9109416,8673525,2649653,2542563,2541446,2187500,2825177,1678778,12560567,8794362,8794361,8416962,2959866,16547752,12719582,8218172,2355006,2283726,2136376,2076345,7635146,15489334,12626409,12490281,12477932,12145188,11942856,10788335,8786151,8093218 7841 NM_006302,AC005041,AJ422288,CH471053,AA292430,AK292553,AK292719,BC002804,BC028337,BC117250,BC117252,DC402060,X87237 NP_006293,CAD19636,EAW99652,EAW99653,BAF85242,BAF85408,AAH28337,AAI17251,AAI17253,CAA60683,Q13724,Q58F09 Hs.709420 GDB:636846 protein-coding 1348453 GCSH glycine cleavage system protein H (aminomethyl carrier) 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), T protein (a tetrahydrofolate-requiring enzyme; MIM 238310), and L protein (a lipoamide dehydrogenase; MIM 238331). Glycine encephalopathy (GCE; MIM 605899), also called nonketotic hyperglycinemia (NKH), may be due to a defect in any one of these enzymes.[supplied by OMIM] 1580863 3348809,1671321,16450403,15489334,12477932,12402263,11450847,6790577,6111451,2025283,16189514 2653 CR457072,CR601763,CR603013,CR603107,CR606547,D00723,M69175,BF798008,BG708388,BT009827,NM_004483,AC092718,AY310735,CH471114,AI656660,AY533031,BC000790,BC009065,BC020922 AAP88829,CAG33353,BAA00625,AAA36011,P23434,Q53XL7,Q6IAT2,Q6QN92,Q96GY5,AAH20922,NP_004474,AAP50260,EAW95545,EAW95546,AAS59848,AAH00790 Hs.546256 GDB:126842 GCE|NKH protein-coding 1353826 GCSL glycine cleavage system protein L 1993704 2654 GDB:132139 1345105 GCTG gamma-glutamylcyclotransferase 2655 GDB:119266 1602016 GCUD2 gastric cancer up-regulated-2 12477932 653573 BC146992,NM_207418,AL109844,AB096683,BC146978 AAI46979,AAI46993,Q6L9T8,NP_997301,BAD20788 Hs.535577 MGC57827 protein-coding 1343914 GCY growth control, Y chromosome influenced 2656 GDB:119267 734048 GDA guanine deaminase The protein encoded by this gene is an enzyme that catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia. It is also known as a cytosolic regulator of PSD-95 postsynaptic targeting. 1580863,1300048 10075721,10542258,16953063,16953061,15489334,14730308,14702039,12477932,10595517,10574462,7566098,3966794,2649557 9615 NM_004293,AL135924,AL590311,CH471089,AA985376,AB033084,AF019638,AF095286,AJ420441,AK023729,AK097540,BC012859,BC033310,BC053584,CR620032,R45063 NP_004284,CAI16261,CAI16262,CAI16265,CAI12631,CAI12632,CAI12633,CAI12635,EAW62528,EAW62529,EAW62530,BAA86572,AAF13301,AAD25978,AAH33310,AAH53584,Q5SZC3,Q5SZC4,Q5SZC6,Q5SZC7,Q8N4V7,Q9H335,Q9ULG2,Q9Y2T3 Hs.494163 GDB:9957799 CYPIN|GUANASE|KIAA1258|MGC9982|NEDASIN protein-coding 1319106 GDAP1 ganglioside-induced differentiation-associated protein 1 This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms have been identified for this gene. 1358634 18062449,17433678,16857173,16607474,16343542,15805163,15772096,15489334,15019704,14561495,12868504,12707075,12601710,12566285,12499475,12477932,11743580,11743579,11592034,10217254,54332 1358634 54332 NM_018972,NM_001040875,AC103952,CH471068,AK292572,AL110252,BC024939,BC036496,DB505741,Y17849,BC035450 NP_061845,NP_001035808,EAW87032,EAW87033,BAF85261,AAH24939,CAA76892,Q8TB36 Hs.168950 GDB:138755,GDB:11508811 protein-coding 1312703 GDAP1L1 ganglioside-induced differentiation-associated protein 1-like 1 The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. 15489334,14702039,12477932,11780052,11125086,9373149,8125298 78997 AL035462,AL117382,CH471077,AF123764,AF123765,AF277566,AK056251,NM_024034,AK225166,BC000199,BC009014,CR589980,CR597927,CR603440,CR613531,CR620596,CR749676 NP_076939,CAC36290,CAI23550,CAI23551,CAI23552,CAI23553,CAI23109,CAI23110,CAI23112,EAW75930,EAW75931,EAW75932,EAW75933,EAW75934,EAW75935,AAP97243,AAP97244,AAM73515,BAB71128,AAH00199,AAH09014,CAH18467,Q5TE58,Q71U70,Q71U71,Q96MZ0 Hs.517059 GDB:10796491 DKFZp761K228|dJ881L22.1|dJ995J12.1.1 protein-coding 1314445 GDAP2 ganglioside induced differentiation associated protein 2 12477932,10217254 54834 NM_017686,AL121993,AL122007,CH471122,AK000149,BC013132,BC013324,CR601966,CR608212 NP_060156,CAI22737,CAI22738,EAW56682,EAW56683,BAA90976,AAH13132,Q9NXN4 Hs.705484 GDB:11506067 FLJ20142|dJ776P7.1 protein-coding 734410 GDE1 glycerophosphodiester phosphodiesterase 1 10760272,18227059,16806233,16472945,15489334,12576545,12477932,10493829 51573 NM_016641,AC003108,AC012621,AC130456,CH471186,CS185583,U91321,AF212862,AF306697,AF306698,AY463154,BC001538,BC012153,BC014981,BC025273,BQ897064,CR590251,CR591783,CR605351,CR605785,CR607083,CR612471,CR620034,CR624901 NP_057725,AAC05803,EAW50283,EAW50284,EAW50285,EAW50286,CAJ42764,AAC05440,AAF65234,AAR25624,AAH14981,AAH25273,Q9NZC3 Hs.512607 363E6.2|MIR16 protein-coding 1312261 GDF1 growth differentiation factor 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. 1580863 2034669,17924340,15057824,12477932,10844590,9872981,8401586,1704486 2657 CH471106,AB209169,M62302,NG_003110,NM_001492,AC003972 EAW84743,EAW84744,BAD92406,AAA58501,P27539,Q59GE0,NP_001483,AAB94786 Hs.412355 GDB:7009845 protein-coding 1342570 GDF10 growth differentiation factor 10 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice suggest that the protein encoded by this gene plays a role in skeletal morphogenesis. 1580863 8679252,8670277,18077449,12477932,10844590 2662 NM_004962,AL731561,CH471251,D49493,AA018253,BC028237,D49492,L42113 NP_004953,CAH74047,CAH74048,EAW50661,BAA08453,AAH28237,BAA08452,AAL77527,P55107,Q5VSQ8,Q8N6T2 Hs.2171 GDB:7009849 BMP-3b|BMP3B protein-coding 731907 GDF11 growth differentiation factor 11 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in mice and Xenopus suggest that this protein is involved in mesodermal formation and neurogenesis during embryonic development. 1580863,704404 10075854,10391213,17997109,17912435,10508689,8889549 10220 NM_005811,AC073487,AF028334,CH471054,AA053348,AF028333,AF100907,CR611917 NP_005802,AAF21631,EAW96830,EAW96831,AAF21630,AAC72852,O95390,AAI48592 Hs.643604 GDB:9955736 BMP-11|BMP11 protein-coding 1344001 GDF15 growth differentiation factor 15 Bone morphogenetic proteins (e.g., BMP5; MIM 112265) are members of the transforming growth factor-beta (see TGFB1; MIM 190180) superfamily and regulate tissue differentiation and maintenance. They are synthesized as precursor molecules that are processed at a dibasic cleavage site to release C-terminal domains containing a characteristic motif of 7 conserved cysteines in the mature protein.[supplied by OMIM] 1580863 9326641,9348093,17982462,12855642,17909264,17908975,17721544,17637746,17548705,17328047,17050687,16775185,16741990,16699947,16484622,16397141,16388506,16286461,16154591,15757899,15677629,15670751,15342369,15316060,15073115,14726168,14662774,14575402,12941831,12900512,12894347,12624183,12514175,12477932,12139236,12090982,12082608,12011055,11994274,11895857,11445565,11278594,11259636,11141057,11134143,11102463,10811612,10777512,10524241,9593718,9426002,9375789,9373149,8125298,16189514 9518 NM_004864,AC008397,AF008303,CH471106,AB000584,AF003934,AF019770,AF173860,AK225431,AK291530,BC000529,BC008962,BT019465,U51731,U88323 NP_004855,AAC39537,EAW84694,BAA19151,AAC24456,AAB88673,AAF89834,BAF84219,AAH00529,AAH08962,AAV38272,AAB88913,Q99988,Q9BWA0 Hs.616962 GDF-15|MIC-1|MIC1|NAG-1|PDF|PLAB|PTGFB protein-coding 1353215 GDF2 growth differentiation factor 2 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system neurons. 1580863 17549388,17311849,17068149,15851468,15489334,12477932,11748585,10894782,10849432 2658 NM_016204,AL731561,CH471251,AF156891,AF188285,BC069643,BC074921 NP_057288,CAH74046,EAW50660,AAD40309,AAD56960,AAH69643,AAH74921,Q5VSQ9,Q9UK05,ABZ92149,ABZ92481 Hs.279463 GDB:7009846 BMP-9|BMP9 protein-coding 1345464 GDF3 growth differentiation factor 3 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. 1580863 16339188,16126341,15489334,12975309,12477932,10844590,9467948,8429021 9573 NM_020634,AC006927,CH471116,AF110641,AF263538,AY358875,BC030959 NP_065685,EAW88659,AAM27000,AAF91389,AAQ89234,AAH30959,Q8NI58,Q9NR23,ABM83587,ABM86827 Hs.86232 GDB:9957385 protein-coding 1347948 GDF4 growth differentiation factor 4 23709 GDB:10794642 1345266 GDF5 growth differentiation factor 5 The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. 1580863 8589725,9288098,7961761,18299287,18203755,18193045,18075819,17989347,17676627,17616513,17384641,16716349,16532400,16508114,16499717,16127465,16014698,15569154,15489334,14973287,14735582,14660436,12707774,12543931,12477932,12357473,12124730,12121354,11780052,11282024,10844590,10512744,9525338,9451821,9288091,9057810,8702914,8661040,7980526 8200 NM_000557,A43194,A60247,AB019005,AL121586,CH471077,CS025628,X80915,BC032495,BC111566,BC111859,U13660 NP_000548,CAA02710,CAA03553,BAA86941,CAB89416,EAW76208,EAW76209,CAI61691,CAA56874,AAH32495,AAI11567,AAI11860,AAA57007,P43026,Q2NKW7 Hs.1573 GDB:433948 BMP14|CDMP1|LAP4|SYNS2 protein-coding 1347722 GDF6 growth differentiation factor 6 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. 18425797,17236135,15489334,15246821,12606286,12477932,12027540,10448738,10022976,9525338,9218508,9057810,8145850,7961761 392255 NM_001001557,AP003465,CH471060,AJ537424,BC043222,BC127947,BC127948 NP_001001557,EAW91747,CAD60934,AAH43222,AAI27948,AAI27949,Q6KF10,AAI56446 Hs.492277 GDB:135350,GDB:9957376 BMP13|CDMP2|KFS|KFSL|MGC158100|MGC158101|SGM1 protein-coding 1322500 GDF7 growth differentiation factor 7 This gene encodes a member of the bone morphogenetic protein (BMP) family. BMPs belong to the transforming growth factor-beta superfamily of secreted signalling molecules that regulate diverse processes in growth, repair and embryonic development. In mouse, this gene functions as an inductive signal from the roof plate required for the specification of neuronal identity in the dorsal spinal cord. 12741987,10022976,9808626 151449 NM_182828,AC012065,CH471053,AB158468,AF522369 NP_878248,EAX00811,BAD07014,AAP97720,Q75RY1,Q7Z4P5,AAI60118 Hs.447688 GDB:9957487 BMP12 protein-coding 736579 GDF9 growth differentiation factor 9 Growth factors synthesized by ovarian somatic cells directly affect oocyte growth and function. Growth differentiation factor-9 (GDF9) is expressed in oocytes and is thought to be required for ovarian folliculogenesis. GDF9 is a member of the transforming growth factor-beta superfamily. 1580863 8849725,17482612,17453295,17156781,17027369,16954162,16645022,16344560,16278619,16169070,15489334,15383276,15372022,14970198,12477932,12446716,12135884,10712517,10443672,8429021,7760846 2661 NM_005260,AC004500,CH471062,BC096228,BC096229,BC096230,BC096231,BX117145,CA488820,DB320693 NP_005251,AAC08450,EAW62309,AAH96228,AAH96229,AAH96230,AAH96231,O60383 Hs.25022 GDB:7009848 protein-coding 731728 GDI1 GDP dissociation inhibitor 1 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific mental retardation. 1580863,704404 17353931,7543319,18487148,16713569,16596196,16381901,16368544,16344560,15647276,15592455,15489336,15489334,15480879,15292224,14702039,12802062,12777533,12477932,12198156,11809807,11583574,11256614,11076863,10751420,9674910,9668174,9620768,9490022,9106537,8836150,8826463,8733135,8491184,8281148,8175798,7849400,7744738,7585614,7513052,2115118,1286667,16189514 2664 AB101808,AB101809,AB101810,AB101811,AB101812,AB101813,AB101814,AB101815,AB101816,AB101817,AB101818,AB101819,AB101820,AB101831,AB101832,AB101833,AB101834,AB101835,AB101836,AB101837,AB101838,AB101839,AB101840,AB101807,AB101741,AB101742,AB101743,AB101744,AB101745,AB101746,AB101747,AB101748,AB101749,AB101750,AB101751,AB101752,AB101753,AB101754,AB101755,AB101756,AB101757,AB101758,AB101759,AB101760,AB101771,AB101772,NM_001493,AB101774,AB101775,AB101776,AB101777,AB101778,AB101779,AB101780,AB101781,AB101782,AB101783,AB101784,AB101785,AB101786,AB101787,AB101788,AB101789,AB101790,AB101801,AB101802,AB101803,AB101804,AB101805,AB101806,AB101773,AB101841,AB101842,AB101843,AB101844,AB101845,AB101846,AB101847,AB101848,AB101849,AB101850,BX936385,CH471172,L44140,U14623,X79354,AB102647,AF400433,AK123405,AK131466,AL833629,BC000317,BC012201,BT019884,CR542258,CR542276,CR592563,CR604675,CR611750,CR620001,D45021,DA133083,DB005169,L05086,X79353,AK090746 BAC80396,BAC80397,BAC80398,BAC80399,BAC80400,BAC80401,BAC80402,BAC80403,BAC80404,BAC80405,BAC80406,BAC80407,BAC80408,BAC80409,BAC80420,BAC80421,BAC80422,BAC80423,BAC80424,BAC80425,BAC80426,BAC80427,BAC80428,NP_001484,BAC80330,BAC80331,BAC80332,BAC80333,BAC80334,BAC80335,BAC80336,BAC80337,BAC80338,BAC80339,BAC80340,BAC80341,BAC80342,BAC80343,BAC80344,BAC80345,BAC80346,BAC80347,BAC80348,BAC80349,BAC80360,BAC80361,BAC80362,BAC80363,BAC80364,BAC80365,BAC80366,BAC80367,BAC80368,BAC80369,BAC80370,BAC80371,BAC80372,BAC80373,BAC80374,BAC80375,BAC80376,BAC80377,BAC80378,BAC80379,BAC80390,BAC80391,BAC80392,BAC80393,BAC80394,BAC80395,BAC80429,BAC80430,BAC80431,BAC80432,BAC80433,BAC80434,BAC80435,BAC80436,BAC80437,BAC80438,BAC80439,CAI95780,EAW72709,EAW72710,EAW72711,AAA92648,AAA21558,CAA55909,BAC81116,AAK92482,BAD18611,AAH00317,AAH12201,AAV38687,CAG47054,CAG47072,BAA08078,AAC15851,CAA55908,P31150,Q6FG50,Q6ZMW4,CAL37538,CAL38104,CAL38477,ABM82975,ABM86169,ABM87842 Hs.74576 GDB:1347097 FLJ41411|GDIL|MRX41|MRX48|OPHN2|RABGD1A|RABGDIA|XAP-4 guanosine diphosphate dissociation inhibitor 1 protein-coding 1346683 GDI2 GDP dissociation inhibitor 2 GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 7543319,16130169,12493773,17826660,17507299,17487395,16344560,15489334,15173088,14702039,12477932,11771757,10996854,10512627,9434952,8575461,7929030,7585614,7513052,1602151,16189514 2665 NM_001115156,AL596094,CH471072,Y13287,AF144713,AK094671,AK122841,AK312485,BC005145,BC024168,BT006868,BX648038,CR457073,CR591329,CR593969,CR607897,D13988,DA069966,Y13286,NM_001494 NP_001485,NP_001108628,CAI13360,CAI13361,CAI13362,CAI13363,CAI13364,CAI13365,EAW86430,EAW86431,EAW86432,CAA73735,AAD34588,BAG35388,AAH05145,AAH24168,AAP35514,CAG33354,BAA03095,CAA73734,P50395,Q5SX87,Q5SX88,Q6IAT1,Q8TB95,ABM92190,ABM84659 Hs.299055 GDB:1347101 FLJ16452|FLJ37352|RABGDIB protein-coding 1352473 GDI2P GDP dissociation inhibitor 2 pseudogene 9434952 2667 NG_001124,AC004899,AC006024,CH236955,Y13298 GDB:9836489 pseudo 735823 GDNF glial cell derived neurotrophic factor This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. In addition to the transcript encoding GDNF, two additional alternative transcripts encoding distinct proteins, referred to as astrocyte-derived trophic factors, have also been described. Mutations in this gene may be associated with Hirschsprung disease. 704404,1580863 8493557,8988018,7830769,8637574,15242795,9811930,18454440,18222320,18081024,18060868,17935603,17897812,17522305,17490619,17470563,17298301,17192954,17023388,10829012,10809797,10366742,9853901,9497256,9482105,9407096,9359036,9098026,8968758,8896569,8896568,8674117,8522325,7867768,7830766,7490108,9685505,17009072,16895582,16644101,16569669,16497298,16125842,16081799,15870700,15817265,15708562,15489334,15211107,15207271,15106825,15003293,12947332,12837245,12477932,12414995,12397373,11973622,11932334,11900567,11844483,11844480,11842239,11823451,11790765,11756008,11732574,11683253,11600185,11588183,11565554,10917288 2668 AAB33493,AAB33494 NM_000514,NM_199231,NM_199234,AC008869,AF053749,AF063586,AJ001896,CH471119,L19063,AF053748,AJ001897,AJ001898,AJ001899,AJ001900,AY052832,BC069119,BC069369,BC128108,BC128109,CR541923,DQ235474 NP_000505,NP_954701,NP_954704,AAC98782,CAA05074,EAW55963,EAW55964,AAA67910,AAD43139,CAA05075,CAA05076,CAA05077,CAA05078,AAL11017,AAH69119,AAH69369,AAI28109,AAI28110,CAG46721,AAB33493,AAB33494,P39905 Hs.248114 GDB:450609 ATF1|ATF2|HFB1-GDNF protein-coding 1349545 GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 1580863 16147865,15489334,14702039,14612981,12477932 284161 NM_182569,AC091059,AC099850,CH471109,AK094770,AK131013,AY271346,BC034432 NP_872375,EAW94411,EAW94412,BAC04419,AAQ01751,AAH34432,Q8N9F7 Hs.631744 FLJ27503|FLJ37451|GDE4|MGC35046|UGPQ protein-coding 1346004 GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 737633,1580863 15772651,15489334,14702039,12975309,12933806,12477932 737633 54857 NM_017711,AL139398,CH471132,AB048363,AK000214,AK097293,AY358986,BC032009 NP_060181,CAI41020,EAX05339,EAX05340,BAB13350,BAA91014,AAQ89345,AAH32009,Q9HCC8 Hs.438712 FLJ20207|GDE3|OBDPF protein-coding 1601852 GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 15489334,14702039,12477932,9373149 79153 NM_024307,AC012645,CH471238,AK026256,AK225450,BC002714 NP_077283,EAW79918,EAW79919,EAW79920,BAB15414,AAH02714,Q7L5L3 Hs.289015 FLJ22603|MGC4171 protein-coding 1602967 GDPD4 glycerophosphodiester phosphodiesterase domain containing 4 220032 NM_182833,AP001855,AP002827,CH471076,AY313782,AY326450 NP_878253,EAW75024,EAW75025,AAQ72549,AAP92403,Q6W3E5 Hs.249795 GDE6 protein-coding 1604590 GDPD5 glycerophosphodiester phosphodiesterase domain containing 5 The retinoid-inducible GDPD5 gene encodes a transmembrane protein that is necessary and sufficient to drive spinal motor neuron differentiation (Rao and Sockanathan, 2005 [PubMed 16195461]).[supplied by OMIM] 16303743,16195461,15498874,15489334,14702039,12975309,12477932 81544 NM_030792,AP002815,CH471076,AF217989,AF289614,AF318351,AF318377,AF451987,AK074848,AK091658,AK098808,AL833941,AY358477,BC018771,BC020203,BC029416,BC033391,BC090053 NP_110419,EAW74967,EAW74968,EAW74969,EAW74970,EAW74971,EAW74972,AAG17232,AAL55798,AAL55858,AAL55884,AAP97686,BAC11242,BAC05418,CAD38796,AAQ88841,AAH18771,AAH20203,AAH29416,AAH33391,Q8NDN3,Q8WTR4,Q9HBR3,ABM83369,ABW03322 Hs.503297 GDE2|PP1665 protein-coding 1601833 GEFT RhoA/RAC/CDC42 exchange factor The Rho family of small GTPases act as molecular switches to control a wide range of cellular processes. Guanine nucleotide exchange factors (GEFs), like GEFT, activate Rho GTPases by accelerating GDP/GTP exchange (Souchet et al., 2002 [PubMed 11861769]).[supplied by OMIM] 18096806,16496360,16314529,15632174,15322108,15069594,12547822,12477932,11861769 115557 NM_182947,NM_001111270,AC025165,AB370196,AF487514,BC012860,BC018536,BC047559,CR599416,CR624415,DB481981 NP_891992,NP_001104740,BAF94999,AAO49463,AAH12860,AAH18536,AAH47559,Q86VW2 Hs.61581 p63RhoGEF rac/cdc42 exchange factor protein-coding 1316557 GEM GTP binding protein overexpressed in skeletal muscle The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. 1580863 7912851,17107948,17052716,16242932,15489334,12477932,11956230,11395774,9115241,8825643,7809057,12093360,16189514 2669 NM_005261,NM_181702,AP003478,CH471060,BC022010,BI759640,CR603445,U10550,U13052 NP_005252,NP_859053,EAW91709,EAW91710,AAH22010,AAA64911,AAC50067,P55040,ABM81747,ABM84902 Hs.654463 GDB:377327 KIR|MGC26294 protein-coding 1344278 GEMIN4 gem (nuclear organelle) associated protein 4 The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 11714716,10725331,15130578,10531003,16301532,14603441,12869526,12668731,12477932,12065586,11748230,11713266,11642406,11522829,11230166,11149922,14970384,17353931,10942426 50628 NM_015721,AC087392,AF258545,CH471108,AF173856,AF177341,AL080150,AL080167,BC020062,BC032084,BC036024,DB455185 NP_056536,AAG24546,EAW90653,EAW90654,AAF35283,AAG17985,CAB45743,CAB45755,AAH20062,P57678,Q8WUM5,Q9HBB9,Q9HC39 Hs.499620 GDB:11500425 DKFZP434B131|DKFZP434D174|HC56|HCAP1|HHRF-1|p97 protein-coding 1321352 GEMIN5 gem (nuclear organelle) associated protein 5 GEMIN5 is part of a large macromolecular complex localized to both the cytoplasm and the nucleus that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), and GEMIN4 (MIM 606969).[supplied by OMIM] 1580863 11714716,16857593,15130578,10531003,18245461,17640873,17640370,17541429,17081983,16964243,16344560,15489334,15302935,14702039,12477932,12065586 25929 NM_015465,AC008421,CH471062,AK022748,AK074066,AL117665,AY063750,BC008776,BC014147,BC036894,BC040931,BC113614,DA400244 NP_056280,EAW61623,EAW61624,BAB14222,BAB84892,CAB56035,AAL38980,AAH08776,AAH14147,AAH36894,AAI13615,Q58EZ8,Q8TEQ6 Hs.483921 DKFZP586M1824|MGC142174 protein-coding 1322484 GEMIN6 gem (nuclear organelle) associated protein 6 GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM] 11748230,15130578,10531003,17023415,15815621,15489334,14702039,12477932,12065586,16189514,15939020 79833 NM_024775,AC018693,CH471053,AF453443,AK027112,BC018195,BC029584,BM471707 NP_079051,AAY24255,EAX00360,EAX00361,AAL48292,BAB15660,AAH18195,Q8WXD5 Hs.143818 FLJ23459 protein-coding 1354242 GEMIN7 gem (nuclear organelle) associated protein 7 The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. 1580863 12065586,15130578,10531003,17023415,16169070,16159890,15489334,14702039,12477932,16189514 79760 NM_001007270,NM_024707,NM_001007269,AC011489,CH471126,AK024018,AY114106,BC007793,BU602037,CB148876,CR457321,CR595446,W35331 NP_001007271,NP_078983,NP_001007270,EAW57321,BAB14780,AAM44083,AAH07793,CAG33602,Q6IA34,Q9H840 Hs.466919 SIP3 protein-coding 1343150 GEMIN8 gem (nuclear organelle) associated protein 8 17023415,16434402,15489334,14702039,12477932 54960 NM_001042480,NM_017856,NM_001042479,AC003035,CH471074,AK000521,AK095002,AK125062,BC003607,BC014324,BC020785,BX386466,CR457241,CR597144,CR619344,DQ224033 NP_001035945,NP_060326,NP_001035944,EAW98851,EAW98852,EAW98853,EAW98854,EAW98855,EAW98856,BAA91227,BAC86038,AAH03607,AAH14324,AAH20785,CAG33522,ABB46495,Q9NWZ8 Hs.592237 FAM51A1|FLJ20514|FLJ43072 family with sequence similarity 51, member a1 protein-coding 1606393 GEN1 Gen homolog 1, endonuclease (Drosophila) 15576351,14702039,12477932 348654 AC097377,CH471053,AK025489,AK098188,AK131387,BC035863,BC117204,BC117206,CR936783,NM_182625,AC093731 EAX00865,BAC05254,BAD18538,AAI17205,AAI17207,Q17RS7,Q8N1H6,NP_872431 Hs.467793 DKFZp781F0986|FLJ40869|Gen protein-coding 619574 GFAP glial fibrillary acidic protein This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. An additional transcript variant has been described, but its full length sequence has not been determined. 704404,1580863 2740350,18079314,18054694,18004641,17985264,17981838,17934883,17894839,17805552,17703343,17515952,17318298,17203480,17008879,16866629,16826512,16773221,16565071,16507909,16458536,16365790,16303762,16217707,16189514,16168595,16168593,16147953,15979880,15885920,15839736,15837555,15732097,15489334,15477559,15469203,15465095,15284230,15238995,14702039,14557587,12975300,12944715,12931206,12884016,12837269,12581808,12477932,12447932,12177195,12169273,12084347,16507904,12058025,12034796,11891800,11867077,11595337,11587071,11567214,11379820,11138011,10510252,9693047,9417904,9373149,9099667,8125298,7964717,7822264,2780570,2349237,2163003,2155236,2114109,1918004,1847665,1636374,1602151,15285794,8381971,7842474,8318270,17077296,11519482,2201025,15519244,10597774 2670 NM_002055,AC015936,AY142187,AY142188,AY142191,CH471178,CS088769,M67446,AF419299,AJ306447,AK098380,AK098758,AK128790,AK222683,BC012228,BC013596,BC041765,BC062609,CR591619,J04569,M26638,S40719,U92979,AL133013 NP_002046,AAN87903,AAN87904,AAN87907,EAW51567,EAW51568,EAW51569,EAW51570,EAW51571,CAI99149,AAL16662,CAC69881,BAC87610,BAD96403,AAH12228,AAH13596,AAH41765,AAH62609,AAA52528,AAA52529,AAB22581,P14136,Q96EJ1,CAB61354 Hs.514227 GDB:118799 FLJ45472 protein-coding 736290 GFER growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae) The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. 1580863 12681488,17336303,16937489,16865786,16677602,15982324,15894171,15489334,14500725,12681483,12477932,12180965,11925624,11879572,11819575,11709497,10982794,10384986,10206950,9813496,8900538,8575761,8076931,6843662,3568764,1552903 2671 AC005606,AF146394,AF183892,AJ238317,CH471112,AF124603,AF124604,AF208342,AF306863,AY550027,BC002429,BC028348,BG705583,CR616739,U31176,NM_005262 NP_005253,AAD36986,AAD56538,CAB87993,EAW85578,EAW85579,EAW85580,AAD17327,AAD17328,AAG43494,AAG38105,AAS55642,AAH02429,AAH28348,AAA96390,P55789,Q53YM6,Q9H290,Q9H2X5,Q9UK40,Q9UQK8,Q9NY86 Hs.27184 GDB:696436 ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS growth factor, erv1 -like protein-coding 733642 GFI1 growth factor independent 1 transcription repressor This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. 704404,1580863 17909014,8441411,18371060,17646546,17636019,17244686,17213822,17207994,16888099,16716599,16344560,16319680,16287849,15947108,15489334,15131254,14702039,12874834,12778173,12477932,12351384,11060035,10737800,9051000,8754800,7789186 2672 NM_005263,NM_001127215,NM_001127216,NG_007874,AC104456,CH471097,AB209606,AK123009,AK313876,BC032751,BC074866,BC074867,BE242676,BM150826,BQ336135,DA927584,DB129173,DB137690,U67369 NP_005254,NP_001120687,NP_001120688,EAW73092,EAW73093,EAW73094,BAD92843,AAH32751,AAH74866,AAH74867,AAB37272,Q59F55,Q99684,ABM82199,ABM85387 Hs.73172 GDB:389574 FLJ94509|GFI-1|ZNF163 protein-coding 1323334 GFI1B growth factor independent 1B transcription repressor 1580863 16713569,9566867,17420275,17272506,16177182,15507521,15280509,12477932,12351384,9878267 8328 AY428733,NM_004188,AL593851,CH471090,AF081946,BC035626,BC043371,BC048254,CR536546 NP_004179,CAH73618,CAH73619,EAW88023,EAW88024,EAW88025,AAD08672,AAR06639,AAH43371,CAG38783,Q5VTD9 Hs.553160 GDB:9864887 protein-coding 1342920 GFI2 growth factor independent 2 2666 GDB:392088 1604558 GFM1 G elongation factor, mitochondrial 1 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. 17160893,16632485,15537906,15489334,15358359,14702039,12477932,11735030,11374907,3169261,2556394 85476 NM_024996,AC025033,AC080013,CH471052,AF309777,AF367998,AK000780,AK022724,AK023694,AK092293,BC049210,CR617202,CR623235 NP_079272,EAW78677,EAW78678,EAW78679,EAW78680,EAW78681,EAW78682,AAK58877,AAK53402,BAB14205,AAH49210,Q96RP9,Q9H9M0 Hs.518355 COXPD1|EFG|EFG1|EFGM|EGF1|FLJ12662|FLJ13632|FLJ20773|GFM|hEFG1 protein-coding 1603941 GFM2 G elongation factor, mitochondrial 2 Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in at least three transcript variants encoding distinct isoforms. 16632485,15489334,12477932,11735030 84340 A0AR28,Q8N6D8,Q969S9,Q9H6Z1 NM_170691,NM_032380,NM_170681,AC093214,CH471084,AF111808,CR607096,AF367997,AK025314,AY453587,BC015712,BC030612,CR592399 NP_733792,NP_115756,NP_733781,EAW95743,EAW95744,EAW95745,EAW95746,EAW95747,EAW95748,A0AR28,Q8N6D8,Q969S9,Q9H6Z1,AAL39010,AAK53401,BAB15109,AAS49035,AAH15712,AAH30612 Hs.277154 EFG2|MST027|hEFG2 protein-coding 1323002 GFOD1 glucose-fructose oxidoreductase domain containing 1 1580863 15489334,14702039,14574404,12477932 54438 NM_018988,AL583828,AL589984,AL591969,CH471087,AK000337,AK027010,BC119005,BC124557,BC148295 NP_061861,CAI14822,CAI21577,CAI21578,EAW55331,BAA91093,BAB15624,AAI19006,AAI24558,AAI48296,Q9NXC2 Hs.484686 protein-coding 1604583 GFOD2 glucose-fructose oxidoreductase domain containing 2 17081983,15489334,14702039,12975309,12477932,9373149,8125298 81577 NM_030819,AC010530,AK074382,AK091606,AK225997,AL832904,AY358169,BC000757,BC002943,BC107585,CR614501 NP_110446,BAB85066,CAH10637,AAQ88536,AAH00757,AAH02943,AAI07586,Q3B7J2 Hs.656247 FLJ23802|MGC11335 protein-coding 1353383 GFPT1 glutamine-fructose-6-phosphate transaminase 1 Glutamine-fructose-6-phosphate transaminase 1 is the first and rate-limiting enzyme of the hexosamine pathway. GFAT controls the flux of glucose into the hexosamine pathway and catalyzes the formation of glucosamine 6-phosphate. 1625423,1624365,1625539,1580863 8144040,1460020,17941647,17542649,17081983,17024311,16964243,15878746,15613432,15595739,15489334,15308130,14988277,12802498,12477932,11679416,11587069,10997685,10806197,10198162,9519709,7607664,7601477,2037571 1625423,1624365,1625539 2673 NM_002056,AC114772,CH471053,AF334737,BC045641,M90516 NP_002047,AAY14827,EAW99851,EAW99852,EAW99853,AAK15342,AAH45641,AAA58502,Q06210,Q53QE6 Hs.645286 GDB:136391 GFA|GFAT|GFAT1|GFAT1m|GFPT protein-coding 1351553 GFPT2 glutamine-fructose-6-phosphate transaminase 2 1580863 10198162,17574229,17542649,17081983,15489334,14764791,14702039,12477932 9945 NM_005110,AC008610,CH471165,AB016789,AK001242,AK022507,BC000012,BT009818 NP_005101,EAW53755,EAW53756,BAA74731,AAH00012,AAP88820,O94808,ABM83102,ABM86297 Hs.696497 GDB:9958500 FLJ10380|GFAT2 protein-coding 733164 GFRA1 GDNF family receptor alpha 1 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Two alternatively spliced transcipt variants encoding different isoforms have been described for this gene. 1580863 12624147,12490080,12477932,12065680,11932334,11360200,11182089,10821644,10774729,9740802,9697851,9600247,9482105,9465905,9407096,9192898,9182803,9177201,9108413,8889548,8657309,16189514,10829012,9545641,8674117,18089803,17825269,17298301,16813162,16644101,16551639,16175604,15489334,14759258,14566559,14514671,12837245 2674 NM_005264,NM_145793,AC012470,AC073588,AF038420,AF058999,CH471066,AF038421,AF042080,AK292886,BC014962,BM675677,BU935138,U95847,U97144 NP_005255,NP_665736,AAC39693,AAC14431,EAW49456,EAW49457,EAW49458,AAC39692,AAB97371,BAF85575,AAH14962,AAB71811,AAC51646,P56159,ABM83136,ABM86332 Hs.591913 GDB:5661237 GDNFR|GDNFRA|GFR-ALPHA-1|MGC23045|RET1L|RETL1|TRNR1 glial cell line derived neurotrophic factor family receptor alpha 1 protein-coding 732295 GFRA2 GDNF family receptor alpha 2 Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. 61606,1580863,704404 10829012,9192898,17825269,17522305,15489334,12624147,12490080,12477932,11409869,10774729,9407096,9259272,9182803,9177201 61606 2675 NM_001495,AC129925,CH471080,AF002700,AY326396,AY941828,BC041688,U93703,U97145,AC105186 NP_001486,EAW63742,AAC52036,AAP88378,AAX46325,AAH41688,AAB61922,AAC51647,O00451,Q58J92 Hs.441202 GDB:7087501 GDNFRB|NRTNR-ALPHA|NTNRA|RETL2|TRNR2 glial cell line derived neurotrophic factor family receptor alpha 2 protein-coding 731370 GFRA3 GDNF family receptor alpha 3 The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. 1580863,704404 9407096,9576965,9490034,16765900,15489334,15340161,12975309,12624147,12490080,12477932,11360200,10978357,9883723,7829101 2676 NM_001496,AC106752,CH471062,AF051767,AY359037,BC037951,CR618834,AW020606,AY358997 NP_001487,EAW62152,EAW62153,AAC24355,AAQ89356,AAQ89396,AAH37951,O60609,ABM81776,ABM84930 Hs.58042 GDB:9834878 gdnf-family receptor alpha 3 protein-coding 1343287 GFRA4 GDNF family receptor alpha 4 The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for persephin, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for RET-associated diseases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. 727298,1580863 15225646,12624147,11780052,11551746,11116144,10958791,9740802 727298 64096 NM_145762,NM_022139,AL356755,CH471133,AF253318,AJ291673,AJ291674,AJ291675 NP_665705,NP_071422,CAC16508,CAI23466,EAX10527,EAX10528,EAX10529,AAG25925,CAC19690,CAC19691,CAC19692,Q5JT77,Q9GZZ7 Hs.302025 GDB:11499016 protein-coding 1604920 GFRAL GDNF family receptor alpha like 16086688,14574404,12975309 389400 NM_207410,AL592426,CH471081,AY358198 NP_997293,CAH72998,EAX04441,AAQ88565,Q6UXV0 Hs.526967 C6orf144|GRAL|UNQ9356|bA360D14.1 protein-coding 1317154 GGA1 golgi associated, gamma adaptin ear containing, ARF binding protein 1 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 12505986,12679809,15143060,17596511,17494868,17151287,17005855,16407204,16303743,15886016,15775984,15615712,15489334,15466887,15461802,15231748,15039775,14973137,14702039,14665628,14660606,14638859,14636058,14567678,12858163,12808037,12767220,12668765,17506864,12636914,11301005,10814529,10749927,10747089,10747088,10591208,9373149,8125298,12221117,11124697,12578827,12538641,12477932,12135764,12060753,11950392,11859376,11821067,11390366,11387475 26088 NM_001001560,NM_001001561,AL035496,CH471095,CQ783371,Z83844,AF190862,AF218584,AF233521,NM_013365,AK075256,AK092417,AK095427,AK097270,AK122898,AK225157,AK290548,AL110219,BC000538,BC010917,BC029388,BC044629,CR456493,CR596724,CR609702 NP_037497,NP_001001560,NP_001001561,CAI20951,EAW60168,EAW60169,EAW60170,CAF86574,CAB63037,CAI20369,AAF05707,AAF42847,AAF35393,BAC11501,BAF83237,CAB53679,AAH00538,AAH10917,AAH29388,AAH44629,CAG30379,Q5R3N1,Q6IC75,Q86YA9,Q8NCS6,Q9UJY5,CAK54521,CAK54820 Hs.499158 GDB:11504505 protein-coding 1312455 GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. 1580863 10749927,12505986,17596511,17494868,17451558,16189514,15615712,15489334,15146197,15039775,14665628,14638859,14567678,12808037,12606052,12477932,12429846,12213833,12135764,11950392,11886874,11821067,11390366,11387476,11387475,11331584,11301005,10814529,10747089,10747088,10702286,10493829,10470851,8889548 23062 NM_015044,AC002400,AC008915,CH471145,AB029003,AF165531,AF190863,AF233522,AF323754,AK024619,AK026350,BC000284,BC050620,BU689580,BU855556,CN423115,CR594963,CR624601 NP_055859,AAC05813,EAW55827,EAW55828,EAW55829,BAA83032,AAF42806,AAF05708,AAF35394,AAK38634,AAH00284,Q9UJY4,ABM83460,ABM86671 Hs.460336 GDB:9954730 FLJ20966|KIAA1080|VEAR protein-coding 1319955 GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Alternative splicing of this gene results in two transcript variants. 1580863 10749927,12505986,17553422,17494868,16996030,16977309,16135791,15701688,15615712,15494413,15489334,15231748,15143060,15039775,14702039,14665628,14660606,14638859,14567678,12810073,12477932,12215646,12213833,12060753,12032548,11950392,11859375,11387475,11301005,10814529,10747089,10747088,8590280,12221117 23163 NM_014001,NM_138619,AC022211,CH471099,AF190864,AF219138,AF219139,AK124541,AK291651,AK291685,AL833603,BC051732,BC063285,BC070044,CR620327,D63876 NP_054720,NP_619525,EAW89252,EAW89253,EAW89254,EAW89255,EAW89256,EAW89257,EAW89258,EAW89259,EAW89260,AAF05709,AAF42848,AAF42849,BAF84340,BAF84374,AAH70044,BAA09926,Q9NZ52 Hs.87726 GDB:9784939 KIAA0154 protein-coding 68554 GGCX gamma-glutamyl carboxylase Gamma-glutamyl carboxylase accomplishes the posttranslational modification required for the activity of all of the vitamin K-dependent proteins (Wu et al., 1991 [PubMed 1749935]). These include some of the blood coagulation and anticoagulation proteins as well as bone gamma-carboxyglutamic acid (Gla) protein (BGLAP; MIM 112260) and bone matrix protein (MGP; MIM 154870).[supplied by OMIM] 704404,1598791,1580863 11133752,11087858,11071668,10934213,10910912,10556651,10393081,9538022,9373149,9166845,8702425,8647260,8125298,7759116,3944102,2145029,1498334,1749935,9845520,18079608,17786385,17764537,17189218,17144668,17049586,17048007,17029979,16979907,16676068,15900282,15883587,15815621,15489334,15365175,15287948,14660587,14567538,12968027,12963724,12477932,12475254,12034728,11591726,11580082,11570873 1598791 2677 NM_000821,AC016753,AF253530,CH471053,U65896,AK130139,AK222827,AK225663,BC004422,BC013979,CR607119,L17128,M81592 NP_000812,AAY24340,AAF64245,EAW99509,EAW99510,AAB39832,BAD96547,AAH13979,AAA91834,AAA58643,P38435,Q53GV4,Q9NYE3,ABM83874,ABM87195 Hs.77719 GDB:129562 FLJ26629|VKCFD1 protein-coding 735324 GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. 69845,1300048,1580863 17081065,17009228,16945597,16875718,16141796,15492986,15489334,12643545,12477932,11953431,10598552,10570974,9614206,8621474,3759978,2867095,1713122,16189514,17286537,8816764,17409534 69845 8836 NM_003878,AC120042,AF147082,CH471068,AK290450,BC025025,CR592214,CR600078,CR601761,CR605764,CR612261,U55206 NP_003869,AAF03360,EAW86862,BAF83139,AAH25025,AAC05579,Q92820 Hs.78619 GDB:9957358 GH protein-coding 1315571 GGN gametogenetin This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. 15642376,15489334,14702039,12574169,12477932 199720 NM_152657,AC005789,CH471126,AF538035,AF538036,AF538037,AK057356,AK093032,BC035008,BK000550 NP_689870,EAW56786,EAW56787,EAW56788,AAP31500,AAP31501,AAP31502,BAC04025,AAH35008,DAA00240,Q86UU3,Q86UU5,Q96DL6,ABM82154,ABM85339 Hs.447948 FLJ35713|MGC33369 protein-coding 1642110 GGNBP1 gametogenetin binding protein 1 15642376,15625700,12547822 449520 XM_001724455,XM_001724454,XM_001721288,XM_001721286,XM_001721178,XM_001721177,CH471081,Z93017,AY383626,AY383627 XP_001724507,XP_001724506,XP_001721340,XP_001721338,XP_001721230,XP_001721229,EAX03743,AAR26430,AAR26431,Q5YKI7 Hs.690455 protein-coding 1343556 GGNBP2 gametogenetin binding protein 2 1304483,1580863 15642376,15145523,14702039,11728448 1304483 79893 NM_024835,AC003042,AC126327,CH471199,AF126964,AF268387,AJ404670,AK024883,AK026214,AK124053,AK124084,AK290687,AK292161,BC137491,BG393068,CD557886 NP_079111,EAW57566,EAW57567,AAG43247,AAK38614,CAC18878,BAB15031,BAB15397,BAF83376,BAF84850,AAI37492,Q9H3C7 Hs.514116 DIF-3|DIF3|FLJ21230|FLJ22561|FLJ42090|LCRG1|LZK1|ZFP403|ZNF403 protein-coding 1343459 GGPS1 geranylgeranyl diphosphate synthase 1 This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9741684,10026212,17646172,17536018,16806233,16710414,16698791,15489334,12477932,12446740,10931946,10101267,8419360 9453 NM_001037277,NM_004837,NM_001037278,AL391994,CH471098,AB016043,AB017971,AB019036,AF057698,AF125394,AI088775,AK025139,BC005252,BC067768,BI462253,BI520491,BI963107,CB216084,CR603114,CR612465 NP_001032354,NP_004828,NP_001032355,CAI13753,EAW70016,EAW70017,EAW70018,EAW70019,EAW70020,BAA76511,BAA75909,BAA77251,AAG45581,AAD43050,AAH05252,AAH67768,O95749 Hs.647791 GDB:9956748 GGPPS|GGPPS1 protein-coding 735681 GGT1 gamma-glutamyltransferase 1 Human gamma-glutamyltransferase catalyzes the transfer of the glutamyl moiety of glutathione to a variety of amino acids and dipeptide acceptors. This heteroduplex enzyme is composed of a heavy chain and a light chain, which are derived from a single precursor protein, and is present in tissues involved in absorption and secretion. This enzyme is a member of the gamma-glutamyltransferase protein family, of which many members have not yet been fully characterized. This gene encodes several transcript variants; studies suggest that many transcripts of this gene family may be non-functional or represent pseudogenes. The functional transcripts which have been fully characterized have been grouped and classified as type I gamma-glutamyltransferase. Complex splicing events may take place in a tissue-specific manner, resulting in marked dissimilarity in the 5' UTRs. Several 5' UTR transcript variants of the type I gene have been identified in different tissues and cancer cells. 1300048,1601300,1580863 17895524,17698237,17652002,17503391,17260973,17141888,17109502,17095717,16386375,15694941,15528406,15528049,15489334,15461802,15084671,15052692,14754911,12835487,12721789,12532447,12480555,12477932,12447480,12144532,12030366,11940314,10756096,10591208,10392451,9862348,9738450,9074928,8889548,8827453,8519693,8104871,8104826,8095045,7906515,7759490,7689219,7673200,2907498,2900635,2896486,2885259,2869484,2573352,2568315,1968061,2904146,18464913,18357469,17965490,2563599,1378736,28899,19463,18198 1601300 2678 NM_013430,NM_005265,NM_001032364,NM_001032365,AC000051,AJ006806,AJ006854,AJ007378,AJ007379,AJ007380,AJ007493,AJ230125,AP000356,AL832738,BC025927,BC035341,BC065921,BC069326,BC069473,BC069504,BC128234,BC128238,BC128239,BM673976,BU157907,BU164348,CR456494,DQ000492,J04131,AU077341,J05235,L20490,L20493,L20494,M24087,M24903,X60069 NP_038347,NP_005256,NP_001027536,NP_001027537,CAA07266,CAA07485,CAA07486,CAA07487,CAA07536,AAH25927,AAH65921,AAH69326,AAH69473,AAH69504,AAI28235,AAI28239,AAI28240,CAG30380,AAA52547,AAA35889,AAA02884,AAA02886,AAA02887,AAA35899,AAA52546,CAA42674,O75693,O76032,O76033,P19440,Q6ISU8,Q6NZY2,Q9UEN8,Q9UEN9,CAK54522,CAK54821,ABM84338,ABM86876 Hs.595809,Hs.645535 GDB:120623 CD224|D22S672|D22S732|GGT|GTG|MGC96892|MGC96904|MGC96963 gamma glutamyl-transferase 1 protein-coding 1353052 GGT2 gamma-glutamyltransferase 2 1580863 18357469,18297606,18071669,10591208,8104871,2573352 728441 XM_001129425,XM_001129377,AP000550,M30474 XP_001129425,XP_001129377,AAA52548,P36268 Hs.568255,Hs.645533 GDB:120624 GGT protein-coding 1350985 GGT3P gamma-glutamyltransferase 3 pseudogene 18357469,14715246,12477932,10737800,8104871,2573352 2679 NR_003267,XR_042175,AC008132,AI310838,BC108264,BG999380,CR613324 A6NGU5 Hs.454906,Hs.568255,Hs.595809 GDB:133782 GGT3 gamma-glutamyltransferase 3 pseudo 2290504 GGT4P gamma-glutamyltransferase 4 pseudogene 18357469 643171 XR_038677,NG_007580,AL356585 pseudo 733414 GGT5 gamma-glutamyltransferase 5 This gene is a member of a gene family that encodes gamma-glutamyl transpeptidase enzymes. This enzyme consists of a heavy and a light chain, and is able to hydrolyze the gamma-glutamyl moiety of glutathione. It converts leukotriene C4 to leukotriene D4, however, it doesn't convert synthetic substrates that are commonly used to assay gamma-glutamyl transpeptidase. Three transcript variants encoding different isoforms have been found for this gene. 1300048,1580863 1676842,18357469,15489334,12477932,11063908,10591208,10090893,9374738,9373149,8125298,8095916 2687 NM_001099781,NM_004121,AP000353,AP000354,CH471095,AI581436,AK225661,AK226019,AK292006,AK312401,AL117414,BC011362,BC073999,BT009808,BX425817,CR591358,CR602504,CT841518,M64099,NM_001099782 NP_001093252,NP_001093251,NP_004112,EAW59643,EAW59644,EAW59645,BAF84695,CAB55910,AAH11362,AAH73999,AAP88810,CAJ86448,AAA58503,P36269,Q53XM9,Q6GMP0,ABM81961,ABM85140 Hs.437156 GDB:134033 DKFZP566O011|FLJ92733|GGT-REL|GGTLA1 gamma-glutamyltransferase-like activity 1 protein-coding 1603275 GGT6 gamma-glutamyltransferase 6 18357469,16303743,12477932 124975 NM_153338,AC118754,CH471108,CQ783528,AK074646,AK129501,BC063111 NP_699169,EAW90432,EAW90433,EAW90434,CAF86704,BAC11110,BAC85168,AAH63111,Q6P531,Q6ZPD7 Hs.130749 FLJ25990|FLJ90165 gamma-glutamyltransferase 6 homolog (rat) protein-coding 731694 GGT7 gamma-glutamyltransferase 7 This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. 1580863 18357469,16344560,14702039,12693554,12562771,12477932,12270127,11780052,8104871 2686 NM_178026,AL049709,CH471077,AK090413,AK097100,AK124788,AY138815,BC033745,BC040030,BC101370,BC101371,BC101372,BC141843,BQ013461,BX401449,CA454346,DA117929 NP_821158,CAB61787,EAW76249,EAW76250,EAW76251,EAW76252,BAC03394,BAC04950,BAC85950,AAN15928,AAH33745,AAI01371,AAI01372,AAI01373,AAI41844,Q6ZVB2,Q9UJ14 Hs.433738 GDB:133785 D20S101|GGT4|GGTL3|GGTL5|dJ18C9.2 gamma-glutamyltransferase-like 3 protein-coding 2290516 GGT8P gamma-glutamyltransferase 8 pseudogene 18357469,14702039 645367 NR_003503,AC027612,AK055838 Hs.650223 FLJ31276|GGT1P1 pseudo 1350501 GGTA1 glycoprotein, alpha-galactosyltransferase 1 Alpha-1,3-galactosyltransferase is a Golgi membrane-bound enzyme involved in the biosynthesis of the carbohydrate chains of glycoproteins and glycolipids. Enzyme levels are developmentally regulated and differentiation dependent. The enzyme is present in most mammals but cannot be detected in man, apes, or Old World monkeys. The carbohydrate structure produced by the enzyme is immunogenic in man, and most normal, healthy individuals have a significant titer of a natural antibody against the enzyme. Aberrant expression of the enzyme in man has been implicated in autoimmune disorders and in the occurrence of certain germ cell tumors.[supplied by OMIM] 12499400,12477932,11773054,2108966,1559713 2681 NR_003191,AL359644,J05421,AF305838,AF378121,AF378122,AF378123,BC045756,CR593158,CR602791 AAL09374,AAH45756,Q4G0N0 Hs.97469 GDB:125194 GGTA|GLYT2|MGC48635|a1/3GTP pseudo 1605884 GGTA1P glycoprotein, alpha-galactosyltransferase 1 pseudogene 10978293,2108966,1901859,1559713 121328 NG_002767,AC012518,AF196986,AF378672,M60263 GDB:128077 GLYT2L|GLYT3|HGT2 pseudo 1353216 GGTL1 gamma-glutamyltransferase-like 1 8104871 2684 GDB:133783 1345457 GGTL2 gamma-glutamyltransferase-like 2 8104871 2685 GDB:133784 1353524 GGTLA3 gamma-glutamyltransferase-like activity 3 10843999 128831 GDB:11506071 1343352 GGTLC1 gamma-glutamyltransferase light chain 1 Gamma-glutamyl transpeptidase is a membrane-bound protein that is important in the metabolism of glutathione. The protein encoded by this gene is similar in sequence to several members of the gamma-glutamyl transpeptidase family. Three transcript variants encoding the same protein have been found for this gene. 1580863 18357469,16289162,15489334,12477932,11780052,10843999,7689219 92086 NM_178311,NM_080920,NM_178312,AL133466,CH471133,AA931238,BC040904,L20491,L20492 NP_842563,NP_563577,NP_842564,CAC03399,EAX10125,EAX10126,EAX10127,EAX10128,EAX10129,EAX10130,EAX10131,AAH40904,AAA02885,AAA35864,Q5JVS5,Q9BX51 Hs.355394,Hs.450000 GDB:11506073 GGTLA3|GGTLA4|MGC50550|dJ831C21.1|dJ831C21.2 gamma-glutamyltransferase-like activity 4 protein-coding 1345603 GGTLC2 gamma-glutamyltransferase light chain 2 1580863 18357469,12477932,10591208,9074928,8830654,7689219 91227 NM_199127,NG_000002,D87002,AI026655,AW183356,BC069534,BX282400,X98922 NP_954578,BAA20001,AAH69534,CAA67421,Q14390,Q6ISH0 Hs.450000,Hs.632765 GDB:11506069 GGTL4|MGC96916 gamma-glutamyltransferase-like 4 protein-coding 2291779 GGTLC3 gamma-glutamyltransferase light chain 3 18357469,7906515,2904146 728226 XM_001128310,XM_001128302,XM_001128296,AC023490,L10397 XP_001128310,XP_001128302,XP_001128296 Hs.454906 GGT protein-coding 2291821 GGTLC4P gamma-glutamyltransferase light chain 4 pseudogene 18357469,7906515,2904146 729838 NG_005992,AP000354,L10395 GGT pseudo 2291814 GGTLC5P gamma-glutamyltransferase light chain 5 pseudogene 18357469,7906515,2904146 653590 XR_016962,NG_007453,AC011718,L10399 Hs.568255 GGT pseudo 69101 GH1 growth hormone 1 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. 704404,1601312,1601313,1580863 17785368,17726075,17697029,17693614,17636034,17534663,17496728,17492509,17479231,17405836,17400806,17395896,17392003,17357792,17272398,17272397,17234973,17223997,17211558,17211256,17116217,17090643,17082888,17047377,17044098,17038549,17019066,16914737,16807684,16762973,16572267,17922505,6303755,8943276,7984244,17353931,9144201,18299463,18187617,18160466,18047908,17998942,17975128,17927666,16517055,16491012,16424673,16384844,16368752,16368751,16352683,16331968,16322384,16322331,16284391,16214911,16213174,16133148,16109534,16102809,16083754,15950665,15857837,15844470,15784718,15755445,15741328,15701573,15691369,15638293,15591764,15591149,15545704,15489334,15476590,15473132,15472182,15353581,15241820,15118263,15070916,15044591,15004410,15001589,14998943,14997482,16564564,16543404,14988388,14761840,14673137,14671660,14631161,14595650,14559725,12930995,12721156,12720086,12666876,12655557,12655556,12592062,12590639,12574219,12566947,12552091,12477932,12445833,12435888,12428212,12240900,12198566,12000366,11994274,11916628,11914025,11904318,11864603,11836331,11549663,11502836,10931946,10689634,10469016,10445339,10391209,9556914,9276733,9175738,8674830,8552145,8530604,8496314,8364549,7862673,7714096,7462247,7356479,7169009,7072716,7028740,6357679,6306568,6269091,6262212,5810834,5279528,5279046,5144027,4675454,3912261,3447173,3162714,3004851,2820841,2744760,2180927,1980158,1634529,1549776,1322425,386281,377496 1601312,1601313 2688 NM_022562,NM_022561,NM_022560,NM_000515,NM_022559,NG_001334,A12770,AC127029,CH471109,EU421712,J03071,M13438,V00520,AF110644,AF185611,AY613431,AY613432,BC062475,BC075012,BC075013,BC090045,M14398,V00519,A00469 NP_072056,NP_072055,NP_072054,NP_000506,NP_072053,CAA01057,EAW94233,EAW94239,EAW94251,EAW94261,ABZ88711,ABZ88712,ABZ88713,ABZ88714,ABZ88715,AAA52549,AAA98618,CAA23779,AAD48584,AAG09699,AAT11508,AAT11509,AAH62475,AAH75012,AAH75013,AAH90045,AAA52554,CAA23778,P01241,Q6IYF0,Q6IYF1,CAA00065 Hs.655229 GDB:119982 GH|GH-N|GHN|hGH-N protein-coding 1344971 GH2 growth hormone 2 The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. 1580863 8943276,17701665,15718272,15563602,15531513,15489334,12946357,12477932,12213191,11994274,9820620,9709963,9367422,7384802,7169009,7072716,6306568,6286668,6262212,3379057,2744760,2460050,2196278,1980158,1955498,1378436 2689 NM_022557,NM_022558,NM_002059,NM_022556,NG_001334,AC040958,CH471109,EU421715,J03071,K00470,AF006060,AF006061,CR541902,CR541924,CR608232,CR610881,CR621109,J03756,M38451,BC020760 NP_072051,NP_072052,NP_002050,NP_072050,EAW94238,EAW94248,EAW94252,EAW94258,ABZ88719,ABZ88720,ABZ88721,ABZ88722,AAA52552,AAA98619,AAB71828,AAB71829,AAH20760,CAG46700,CAG46722,AAB59547,AAB59548,AAA35891,O14643,O14644,P01242,Q6FH32,Q6FH54 Hs.406754 GDB:119983 GH-V|GHL|GHV|hGH-V protein-coding 1603379 GHDC GH3 domain containing 16303743,15489334,14702039,12477932,11735219,11161808 84514 NM_032484,AC099811,CH471152,CQ783605,AF316997,AK074700,AK075277,AK122777,AK123075,BC011056,BC022784,CR603987 NP_115873,EAW60811,EAW60812,EAW60813,EAW60814,EAW60815,EAW60816,CAF86772,AAK15472,BAC11146,BAC11514,BAC85531,AAH22784,Q6ZWH2,Q8N2G8 Hs.38039 D11LGP1|LGP1 protein-coding 1345873 GHITM growth hormone inducible transmembrane protein 1580863 11256614,18417609,16381901,15489336,15489334,15164054,12975309,12477932,11230166,11076863,9373149,9110174,8619474,8125298 27069 NM_014394,AC022389,AL603756,CH471142,CS072954,AB009685,AF060923,AF078863,AF131820,AF161400,AK098770,AK130094,AK130097,AK225318,AK292864,AL136713,AL834502,BC010354,BC022872,CR533519,CR596934,CR598450,CR607970,CR611455,CR613304,CR614231,CR618105,AY358824 NP_055209,CAH72660,CAH72661,EAW80367,EAW80368,EAW80369,EAW80370,CAI93684,BAA93049,AAG43135,AAD44495,AAD20052,AAF28960,BAF85553,CAB66648,CAH56398,AAQ89183,AAH10354,CAG38550,Q0P6B6,Q5VT94,Q658I8,Q6FIA7,Q9H3K2,Q9P099,Q9Y6G2,CAL38307,CAL38561 Hs.352656 GDB:11506075 DERP2|DKFZp566C0746|FLJ26584|HSPC282|MICS1|My021|PTD010|TMBIM5 protein-coding 69149 GHR growth hormone receptor This gene encodes a protein that is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. A common alternate allele of this gene, called GHRd3, lacks exon three and has been well-characterized. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. Other splice variants, including one encoding a soluble form of the protein (GHRtr), have been observed but have not been thoroughly characterized. 704404,1601315,1601316,1580863 9140387,8943276,10866662,12907755,2825030,18445665,18404972,18401200,18397980,18299312,18182091,18160465,18073295,18031312,18001530,17986824,17973940,17957148,17925340,17884454,17849745,17764692,17711923,17706034,17671221,17666591,17622584,17598975,17573420,17555512,17555507,17547682,17546465,17537658,17514010,17462934,17426087,17405847,17350302,17347571,17289896,17287408,17220348,17148568,17137217,17090634,17082603,17003087,16757551,16741161,16722931,16582564,16572267,16394090,16381017,16372230,16352683,16291706,16291702,16246940,16213173,16116438,15891957,15857837,15755445,15751611,15743767,15583394,15563602,15196705,15085728,15061875,15001620,14718574,14678285,14551225,14517972,12846737,12756585,12735788,12679461,12611612,12586763,12423626,12088868,11924928,11851338,11785980,11158048,10976913,10870033,10764769,10551776,10585430,10567404,10502458,10391209,9851797,9814495,9632636,9360546,9341147,9121492,9058373,9024232,8923468,8901592,8889548,8855247,8702683,8636303,8504296,8488849,8421103,8360189,8137822,8063815,7862673,7782332,7608270,7565946,7540178,2813379,2779634,2776934,2776481,2406245,2369845,1999489,1955498,1569971,1549776,1284474 1601315,1601316 2690 AC093225,AC113368,AC114941,AC116343,AF155912,AF210633,AJ278681,AJ295613,AY579204,CH471119,CQ832616,M28466,BM719293,BU625645,X06562,Z11849,Z11850,NM_000163 Q32ZL1,Q9HCW9,Q9NRZ8,NP_000154,AAF71399,CAC06613,CAC06615,AAY24715,EAW56023,CAH05763,AAA52555,CAA29808,CAA77873,CAA77874,P10912 Hs.125180,Hs.684631 GDB:119984 GHBP protein-coding 737566 GHRH growth hormone releasing hormone The protein encoded by this gene belongs to the glucagon family and is a preproprotein that is produced in the hypothalamus. The preproprotein is cleaved to form a 44 aa factor, also called somatocrinin, that acts to stimulate growth hormone release from the pituitary. Variant receptors for somatocrinin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. 1580863,2289976,2289972,2289974 15362970,12511850,12477932,12424433,12364462,12213676,12186980,12126741,11780052,8670892,8020943,6812220,6415488,3918305,3029387,3002494,2992358,2854259,1333056,10537133,3008329,6192430,2857452,8421089,17546465,17372203,16606630,16214911,15538933,15489334 2289976,2289972,2289974 2691 NM_021081,AL031659,CH471077,L00134,L00137,AW134884,BC098109,BC098161,BC099727,X00094 NP_066567,CAB41762,CAI42673,EAW76072,AAA52608,AAA52609,AAH98109,AAH98161,AAH99727,CAA24955,CAA24956,P01286,Q4KN10 Hs.37023 GDB:119270 GHRF|GRF|MGC119781 protein-coding 734452 GHRHR growth hormone releasing hormone receptor This gene, expressed in the pituitary, encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. Many alternate transcriptional splice variants encoding different isoforms have been described, but only two have been characterized to date. 728477,704404,1580863,1601338,1601337 7680413,10962031,10084571,9482665,17546465,17356054,16820890,16606630,16284391,16214911,15944917,15362970,12867592,12853948,12794696,12690205,12656663,12606621,12534354,12444890,12424433,12364462,12220735,12220726,12126741,11875102,11773624,11232012,10461027,10429879,9814493,9467553,8528260,8188233,7629234,7559877,7514564,1333056 728477,1601338,1601337 2692 NM_000823,NM_001009824,AACC02000087,AB065701,AC005155,CH471073,U17579,U42225,AB058895,AF282259,AF282260,AF282261,AF282262,AV750179,AY557192,L01406,L09237,S79912 NP_000814,NP_001009824,EAL24445,BAC05924,AAC23789,EAW93973,EAW93974,EAW93975,EAW93976,EAW93977,AAB18630,AAB18631,AAB18632,AAB37758,BAB40232,AAG15368,AAG15369,AAG15370,AAG15371,AAS59864,AAA35890,AAA58619,AAD14318,P78470,P78471,Q02643,Q13027,Q16406,Q8N6C4,Q9HB42,Q9HB43,Q9HB44,Q9HB45,AAI66636 Hs.767 GDB:138465 GHRFR|GHRHRpsv|GRFR protein-coding 730950 GHRL ghrelin/obestatin preprohormone Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor (GHSR; MIM 601898) and is involved in regulating growth hormone (GH; MIM 139250) release. Ghrelin is derived from a preprohormone called preproghrelin, which also generates a second peptide called obestatin. Obestatin is an endogenous ligand for the orphan G protein-coupled receptor GPR39 (MIM 602886) and is involved in satiety and decreased food intake.[supplied by OMIM] 704404,1625021,1642818 10604470,15350694,15232612,15576457,17201814,17494105,16491079,17893689,17890503,17884293,17884032,17869379,17766711,17727735,17719561,17717076,17711921,17709151,17689128,17688884,17667848,17666475,17652221,17646723,17635077,17616856,17616759,17609506,17601657,17596538,17595255,17587401,17923797,17392603,16511605,15572208,15158140,15564328,16394173,15292338,17113048,15039149,15531532,18401204,18398047,18375957,18362297,18299465,18283260,18280066,18274638,18250617,18249219,18246525,18239581,18239577,18205273,18198306,18075283,18071345,18070755,18070417,18064390,18055420,18051927,18049109,17992644,17992641,17957159,17957153,17952858,17952631,17562288,17556836,17551399,17543279,17530417,17495198,17449920,17436104,17405826,17389697,17347386,17344504,17336462,17324965,17317872,17317021,17311892,17289852,17280594,17258885,17197106,17187020,17184731,17167339,17138722,17119003,17079741,17074331,17068144,16979415,16959833,16957407,16954444,16954159,16949080,16942934,16921495,16868147,16865101,16839485,16793966,16759313,16735961,16734390,16720664,16718628,16606630,16601073,16563563,16552751,16549524,16538179,16527811,16483881,16476508,16472909,16459454,16423919,16420657,16391832,16384853,16363872,16340041,16322288,16284174,16210421,16207498,16204371,16204363,16198134,16191452,16189175,16188911,16187069,16182310,16181346,16131812,16108842,16014402,15998770,15998659,15972581,15956087,15955378,15894681,15890737,15863960,15855322,15824975,15820771,15795476,15786542,15775713,15758554,15752580,15745452,15699539,15688209,15657368,15648019,15604212,15585547,15579749,15538935,15522942,15522935,15489334,15476444,15472212,15382608,15340161,15292475,15292337,15292322,15292316,15256494,15254759,15248833,15248831,15248830,15231997,15192277,15181097,15181083,15181038,15142980,15132729,15126574,15126531,15117840,15090637,15075452,15070937,15070936,15070928,15070922,15057671,15057670,15057669,15052530,15001628,14962995,14871884,14764817,14724664,14715878,14715869,14681862,14671163,14671152,14614562,14602798,14602792,14585085,14559725,14551671,14530511,14527669,14521948,14514639,12975309,12974878,12931038,12907757,12892652,12887287,12851720,12829648,12824869,12739020,12732215,12727993,12727973,12727951,12679456,12679444,12679442,12663466,12656662,12606621,12576449,12566947,12553549,12547722,12531885,12519848,12519838,12477932,12429880,12414809,12364482,12364442,12181387,12161552,12161511,12153739,12133904,12107502,12107501,12091883,12050285,12050239,11815627,11788653,11724768,11549663,11502844,11314756,11306336,11227737,11196643,11159851,11158061,11089560,11061542,10930375,10461027,1619020,16189514 1625021,1642818 51738 NM_016362,AC022384,AF296558,AY701846,CH471055,AB029434,AB035700,AJ252278,EU072084,EU072085,EU072086,EU072087,AY184207,AY359053,BC025791,EF139854,EF139855,EF139856,EF549557,EF549569,EF549571,EF549572,EF549573,EF549574,EF549575,EU072083 NP_057446,AAG10300,AAU93610,EAW64074,EAW64075,EAW64076,BAA89371,BAB19045,ABV55186,ABV55187,ABV55188,ABV55189,ABV55190,Q5Y392,Q86YP8,Q9UBU3,ABM81944,ABM85124,AAO27351,AAQ89412,AAH25791,ABQ40356,ABQ40357,ABQ40358,ABQ40359,ABQ40360,ABQ40361,ABQ40362,CAB65733 Hs.590080 MTLRP ghrelin precursor 2289503,2289518 BW443_H,BW454_H protein-coding 2292056 GHRLOS ghrelin opposite strand (non-protein coding) 17727735 100126793 NR_004431,EF549568 miscrna 730941 GHSR growth hormone secretagogue receptor This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. 1625252,1625270,1642818 8688086,15232612,17494105,16511605,12890514,18426818,18375957,18064392,17885924,17601657,17428235,17324965,17229547,17018595,16787234,16606630,16582936,16567594,16527811,16511600,16362631,16020971,15616037,15585554,15489334,15383539,15080774,15062547,14763915,14755130,14719137,14715878,14715843,14701677,12574228,12511847,12477932,12045256,11356716,11322507,11322498,11227737,10604470,9852035,9092793,601898 1625252,1625270,1642818 2693 NM_198407,NM_004122,AC069523,AF099083,AF369786,AY322544,CH471052,CS174239,AY429112,BC069068,BC069374,BC113547,U60179,U60181 NP_940799,NP_004113,AAC97506,AAK71539,AAK71540,AAP84357,EAW78468,EAW78469,CAJ34548,AAR07907,AAH69068,AAH69374,AAI13548,AAC50653,AAC50654,Q6ISR8,Q92847 Hs.248115 GDB:7009906 protein-coding 735662 GIF gastric intrinsic factor (vitamin B synthesis) This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. 704404,1580863 17954916,15738392,15736970,15489334,14695536,14576042,12477932,9572993,5044916,4045300,2071148 2694 NM_005142,AP002347,CH471076,BC037958,X76562 CAA54061,P27352,ABM83395,ABM86608,NP_005133,EAW73860,AAH37958 Hs.110014 GDB:118800 IF|IFMH|INF|TCN3 gastric intrinsic factor protein-coding 1320542 GIGYF1 GRB10 interacting GYF protein 1 17672918,16964243,12771153,12690205,12477932,11239002,9799793,3 64599 NM_022574,AADB02010717,AC009488,AF053356,CH236956,CH471091,AF086157,AF088067,AF289554,AY176044,BC018563,BC036595,BC129991,BQ069946 NP_072096,AAC78792,EAL23822,EAW76496,EAW76497,EAW76498,AAL55738,AAO46888,AAI29992,O75420 Hs.708210 GDB:9953184 GYF1|PERQ1 protein-coding 1314368 GIGYF2 GRB10 interacting GYF protein 2 1580863 16120600,18358451,17081983,15489334,15302935,14702039,12771153,12477932,12168954,9734811,9225980,8889549 26058 AC064852,CH471063,AB014542,AK001739,AK027021,AY176045,BC008072,BC012484,BC014047,BC029456,BC043402,BC053684,BC093090,BC108691,BC146775,BE220828,BG527686,BX537885,BX538172,BX538321,AC016692,NM_015575,NM_001103147,NM_001103146,NM_001103148,BX647172,BX647505,DC346582 EAW71016,EAW71017,EAW71018,EAW71020,BAA31617,BAA91873,AAO46889,AAH08072,AAH12484,AAH29456,AAH53684,AAI46776,CAD97881,NP_056390,NP_001096617,NP_001096616,NP_001096618,CAD98095,Q6Y7W6,Q7Z6I7,Q96EC2 Hs.565319 GDB:10795959 DKFZp686I15154|DKFZp686J17223|FLJ23368|GYF2|KIAA0642|PERQ2|PERQ3|TNRC15 trinucleotide repeat containing 15 protein-coding 1350070 GIMAP1 GTPase, IMAP family member 1 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. 1303371 15489334,15474311,14702039,12690205,12477932,11814688 1303371 170575 NM_130759,AACC02000108,AC006479,CH471173,AJ306287,AK091818,BC040736,CR608105 NP_570115,EAL24485,EAW54095,CAC83740,BAC03754,AAH40736,Q8WWP7 Hs.647087 HIMAP1|IMAP1|IMAP38 protein-coding 1346525 GIMAP2 GTPase, IMAP family member 2 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. 1303371,1580863 15489334,15474311,12690205,12477932,11814688 1303371 26157 BC032345,BG687383,CR603143,CR616610,NM_015660,AACC02000108,AC006479,CH471173,AK074199,AL110151,BC013934 AAH32345,Q9UG22,NP_056475,EAL24484,EAW54096,EAW54097,EAW54098,EAW54099,CAB53662,AAH13934 Hs.647071 DKFZP586D0824|HIMAP2|IMAP2|MGC24275 protein-coding 1349380 GIMAP3P GTPase, IMAP family member 3 pseudogene 1303371 15474311 1303371 474345 NG_004727,AC006479,AJ580951 GIMAP3 pseudo 1351937 GIMAP4 GTPase, IMAP family member 4 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. 1303371,1580863 16509771,15489334,15474311,14702039,12690205,12477932,11964296,11814688,10737800,9828130 1303371 55303 NM_018326,AACC02000108,AC069304,CH471173,CQ834256,AF117333,AJ227872,AK001972,AW836736,BC020657,BC020776,BX476689,CR615293,CR620018 NP_060796,EAL24482,EAW54103,EAW54104,CAH05343,AAO15308,BAA92010,AAH20657,Q9NUV9 Hs.647101,Hs.648582 FLJ11110|HIMAP4|IAN1|IMAP4|MSTP062|hIAN1 protein-coding 1349853 GIMAP5 GTPase, IMAP family member 5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. 17641683,17369194,17220214,15489334,15474311,14724691,14702039,12925764,12690205,12477932,11964296,11814688,11238997 55340 NM_018384,AACC02000108,AC006479,AL080068,CH471173,AK002158,AK055568,AL557446,AV762634,BC011732,BC033688,CR457280,CR594570,CR594804,CR609182,CR609908,CR611454,CR613837,CR614401,CR621072,CR624545 NP_060854,EAL24486,EAW54092,EAW54093,EAW54094,BAA92115,BAB70958,AAH11732,CAG33561,Q96F15 Hs.647079 FLJ11296|HIMAP3|IAN4|IAN4L1|IAN5|IMAP3|hIAN5 protein-coding 1603796 GIMAP6 GTPase, IMAP family member 6 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, IAN subfamily genes are located in a cluster at 7q36.1. Multiple alternatively spliced transcript variants have been described for this gene, but only two have had their full-length natures described. 15474311,14702039,12690205,12477932,11964296,11814688 474344 NM_024711,NM_001007224,AACC02000108,AC069304,CH471173,AJ580952,AK026343,AK026396,AK074044,AL541003,BC060760,BC069461,BC074744,CR611173,CR749355 NP_078987,NP_001007225,EAL24483,EAW54100,EAW54101,EAW54102,CAE45757,BAB15455,BAB84870,AAH60760,AAH74744,CAH18208,Q6P9H5,Q8TES8 Hs.647105 DKFZp686A01175|FLJ22690|IAN6|hIAN2 protein-coding 1343694 GIMAP7 GTPase, IMAP family member 7 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. 1303371,1580863 15489334,15474311,12690205,12477932,11964296,11814688 1303371 168537 NM_153236,AACC02000108,AC069304,AC092025,CH471173,AA854865,BC006010,BC027613,BX440511,CR603844,CR622508 NP_694968,EAL24481,EAW54105,EAW54106,AAH27613,Q8NHV1,ABM81865,ABW03335 Hs.647074 IAN7|MGC27027|hIAN7 protein-coding 1344762 GIMAP8 GTPase, IMAP family member 8 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. 1303371,1580863 16103028,15474311,14702039,12690205,12477932,11964296,11814688 1303371 155038 NM_175571,AACC02000108,AC073111,CH471173,AJ633686,AK057969,AK098320,AL834361,AW236696,BC107037,BM906208 NP_783161,EAL24479,EAW54107,EAW54108,CAG17881,CAD39025,AAI07038,Q8ND71 Hs.647121 DKFZp667I133|IANT|MGC129545|hIAN6 protein-coding 1603218 GIN1 gypsy retrotransposon integrase 1 16344560,16189514,12477932,11470852,9373149,8125298 54826 AC008447,CH471086,AK000132,AK225572,BC015325,BC157835,CR621255,CR627424,DB101499,NM_017676 NP_060146,EAW49080,EAW49081,BAA90963,AAH15325,AAI57836,CAH10511,Q9NXP7 Hs.24088 FLJ20125|GIN-1|TGIN1|ZH2C2 protein-coding 1348237 GINGF2 gingival fibromatosis, hereditary, 2 11386754 64644 GDB:11417160 1605108 GINS1 GINS complex subunit 1 (Psf1 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM] 10942595,17417653,17127213,16287864,15489334,12477932,11780052,8724849 9837 NM_021067,AL031672,AL353812,CH471133,BC012542,D80008 NP_066545,CAI13764,EAX10087,AAH12542,BAA11503,Q14691 Hs.658464 KIAA0186|PSF1|RP4-691N24.2 protein-coding 1602113 GINS2 GINS complex subunit 2 (Psf2 homolog) The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM] 17525332,16189514,15489334,14702039,12730134,12477932,11042152,10810093,9373149,8125298 51659 NM_016095,AC123908,CH471114,AF125098,AF151880,AF201939,AK001275,AK091519,AK223123,BC003186,BC010164,BC022839,BC062444,CR457186,CR592948,CR595781,CR600014,CR601771,CR618457 NP_057179,EAW95443,EAW95444,AAD39915,AAD34117,AAF86875,BAA91595,BAD96843,AAH03186,AAH10164,AAH62444,CAG33467,Q53G08,Q9Y248 Hs.433180 HSPC037|PSF2|Pfs2 protein-coding 1604313 GINS3 GINS complex subunit 3 (Psf3 homolog) This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. 17652513,17557111,17545466,17417653,17170760,17127213,16990792,16344560,15342556,14702039,12730134,12477932 64785 NM_022770,NM_001126129,NM_001126130,AC009118,CH471092,AK023974,AK127454,AL137379,BC005879,BC014437,BP374281,CR457283,CR604342,CR611482,CR613063,CR614103,DA550725 NP_073607,NP_001119601,NP_001119602,EAW82973,EAW82974,EAW82975,EAW82976,BAB14747,AAH05879,AAH14437,CAG33564,Q9BRX5 Hs.47125 FLJ13912|PSF3 protein-coding 1601940 GINS4 GINS complex subunit 4 (Sld5 homolog) The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM] 17417653,16338220,16189514,14702039,12477932 84296 NM_032336,AC009630,CH471080,AK095334,BC005995,BC027454,CR614079 NP_115712,EAW63256,EAW63257,AAH05995,AAH27454,Q9BRT9 Hs.656996 MGC14799|SLD5 protein-coding 1353884 GIP gastric inhibitory polypeptide This gene encodes an incretin hormone and belongs to the glucagon superfamily. The encoded protein is important in maintaining glucose homeostasis as it is a potent stimulator of insulin secretion from pancreatic beta-cells following food ingestion and nutrient absorption. This gene stimulates insulin secretion via its G protein-coupled receptor activation of adenylyl cyclase and other signal transduction pathways. It is a relatively poor inhibitor of gastric acid secretion. 1580863 2890159,18054552,17624916,17609256,17244606,16142014,16010522,15955806,15899957,15655707,15533777,15522230,15489334,15383372,15220248,14988249,12627975,12530694,12530693,12477932,12138104,11820780,8795084,7589426,6745415,2739653 2695 NM_004123,AC091133,CH471109,M31679,BC069100,BC069663,BC069686,BC069746,BC096146,BC096147,BC096148,BC096149,M18185,E02006 NP_004114,EAW94697,AAA53192,AAH69100,AAH69663,AAH69686,AAH69746,AAH96146,AAH96147,AAH96148,AAH96149,AAA88043,P09681 Hs.1454 GDB:119985 protein-coding 733913 GIPC1 GIPC PDZ domain containing family, member 1 68252,1580863 15459234,9770488,12857860,18314626,16962991,16240642,16225848,15767424,15489334,15356268,15304335,15231747,14702039,14507927,12893809,12724327,12477932,12011974,11956658,11912251,11852236,11798178,11546783,11479315,11445579,11441007,11251075,10965131,10911369,10827173,10414980,10318831,10198040,9482110,8986788,8895530,17353931,14499480,15819698 68252 10755 AF028824,AF089816,AI589363,AK022585,AK093820,AK290252,AK290948,BC000410,BC004226,BC012810,BC016169,BI489862,BM764000,BX439219,CB997520,CR597402,CR601609,CR608331,CR614936,CR621243,CR625332,U46448,NM_202470,NM_202469,NM_202468,NM_202467,NM_005716,AC008569,AC012318,CH471106,NM_202494 AAB84249,AAC67548,EAW84431,BAF82941,BAF83637,AAH00410,AAH04226,AAH12810,AAH16169,O14908,ABM85465,NP_974223,NP_974199,NP_974198,NP_974197,NP_974196,NP_005707,EAW84423,EAW84424,EAW84425,EAW84426,EAW84427,EAW84428,EAW84429,EAW84430 Hs.655012 GDB:9958243 C19orf3|GIPC|GLUT1CBP|Hs.6454|IIP-1|MGC15889|MGC3774|NIP|RGS19IP1|SEMCAP|SYNECTIIN|SYNECTIN|TIP-2 regulator of g-protein signaling 19 interacting protein 1 protein-coding 1603220 GIPC2 GIPC PDZ domain containing family, member 2 16169070,15489334,14702039,12477932,12011974,11836570,9373149,8125298 54810 NM_017655,AC093118,AC103591,CH471059,AB073737,AK000082,AK225941,BC036075,BI561167 NP_060125,EAX06353,BAB84711,BAA90933,AAH36075,Q8TF65 Hs.659356 FLJ20075|SEMCAP-2|SEMCAP2 protein-coding 1606469 GIPC3 GIPC PDZ domain containing family, member 3 15489334,15057824,12477932,12011974,11836571 126326 NM_133261,AC005175,AC116968,CH471139,AB073738,BC117312,BC117314 NP_573568,AAC24304,EAW69303,EAW69304,EAW69305,BAB84712,AAI17313,AAI17315,Q8TF64 Hs.266873 protein-coding 732777 GIPR gastric inhibitory polypeptide receptor Gastric inhibitory polypeptide (GIP; MIM 137240), also called glucose-dependent insulinotropic polypeptide, is a 42-amino acid polypeptide synthesized by K cells of the duodenum and small intestine. It was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release potently in the presence of elevated glucose. The insulinotropic effect on pancreatic islet beta-cells was then recognized to be the principal physiologic action of GIP. Together with glucagon-like peptide-1, GIP is largely responsible for the secretion of insulin after eating. It is involved in several other facets of the anabolic response.[supplied by OMIM] 737714,737713,1580863 7589426,7556958,17624916,17395281,17121608,16087722,15666829,15655707,15489334,15111503,15057824,12721154,12627975,12530694,12530665,12477932,10698200,10698169,9709947,8795084,8575774,8243312,7490109 737714,737713 2696 NM_000164,AC006132,AC007191,CH471126,D49559,BC093723,BC095494,BC101673,S79852,U39231 NP_000155,AAC97984,AAD22674,EAW57371,EAW57372,BAA08503,AAH93723,AAH95494,AAI01674,AAB35419,AAA84418,P48546,Q4VBP1 Hs.658534 GDB:335023 MGC126722 gastric inhibitory peptide receptor protein-coding 732720 GIT1 G protein-coupled receptor kinase interactor 1 68782,1580863 15383276,17353931,9826657,18211801,17562871,17467235,17429073,17081983,16825424,16598076,15951569,15923189,15592455,15489334,15302935,15016733,14702039,14523024,12695502,12629171,12522103,12477932,12473661,12153727,11896197,11381105,10938112,10896954,8889548,12923177,15793570 68782 28964 NM_001085454,AC104564,CH471159,AB209537,AF124490,AK000863,AK024826,BC001369,BC005031,BC006227,BC018998,BC032098,BC048196,BC067358,BM984210,BQ424386,BX537553,BX537554,BX648097,CF994106,NM_014030,CR605395,DR001908 NP_054749,NP_001078923,EAW51196,EAW51197,BAD92774,AAD28046,AAH05031,AAH06227,AAH32098,AAH48196,AAH67358,CAD97779,CAD97780,Q59FC3,Q6NWZ0,Q6PIN6,Q7Z2E5,Q9BSI3,Q9Y2X7 Hs.514051 GDB:10796791 protein-coding 1345420 GIT2 G protein-coupled receptor kinase interactor 2 This gene encodes a member of the GIT protein family. GIT proteins interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. This gene undergoes extensive alternative splicing; although ten transcript variants have been described, the full length sequence has been determined for only four variants. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. 68782,1580863 17353931,10896954,10942595,17081983,16628223,16598076,16501306,15592455,15489334,15324660,15212761,15144186,14702039,12477932,12473661,12168954,11251077,11157752,10788515,10428811,10330411,9826657,9373149,8590280,8125298,16189514 68782 9815 NM_014776,NM_057169,NM_057170,NM_139201,AC084876,CH471054,AF124491,AK057814,AK090652,AK091325,AK125441,AK222736,BC001379,BC014223,BC039880,BT007312,CR533568,CR592552,CR598981,CR619699,CR619794,CR749340,D63482 NP_055591,NP_476510,NP_476511,NP_631940,EAW97885,EAW97886,EAW97887,EAW97888,EAW97889,EAW97890,AAD28047,BAD96456,AAH01379,AAH14223,AAP35976,CAG38599,CAH18193,BAA09769,Q14161,Q68DM7,Q6FI58 Hs.434996 GDB:9784912 CAT-2|DKFZp686G01261|KIAA0148|MGC760 protein-coding 1603444 GIYD1 GIY-YIG domain containing 1 A segmental duplication of the p arm of chromosome 16 created two identical copies of the GIY-YIG domain containing gene, this record represents the more centromeric copy. Exons of this gene overlap with exons of the phenol-preferring sulfotransferase (SULT1A3) gene. Two transcript variants that encode different protein isoforms have been identified through sequence analysis. 15358107 548593 NG_005305,AC106782,AC133555,NM_001014999,NM_001015000 NP_001015000,AAI41498,AAI48778,NP_001014999 Hs.460587 protein-coding 1604303 GIYD2 GIY-YIG domain containing 2 A segmental duplication of the p arm of chromosome 16 created two identical copies of the GIY-YIG domain containing gene, this record represents the more telomeric copy. Exons of this gene overlap with exons of the phenol-preferring sulfotransferase (SULT1A4) gene. Two transcript variants that encode different protein isoforms have been identified through sequence analysis. 15358107,12477932,9373149,8125298 79008 BC015990,BC019306,BC069007,BC130545,BC130547,CR592624,CR597573,CR599120,CR604965,CR605240,CR606532,CR608222,CR611003,CR613197,CR617039,NM_024044,NM_178044,NG_005304,AC133555,AK027092,AK225436,BC000754,BC000803 AAH00803,AAH15990,AAH19306,AAH69007,AAI30546,AAI30548,Q9BQ83,Q9H5H2,NP_076949,NP_835145,BAB15654,AAH00754 Hs.460558 FLJ23439|MGC2532|MGC5178 protein-coding 736925 GJA1 gap junction protein, alpha 1, 43kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. 1582666,1582667,1582668,1580863,1580398,704404 12203365,12064631,12064622,12064615,12042301,12019157,12003820,11980479,11815667,11746825,11741942,11741837,11739633,11557558,11514593,11470490,11273731,11035005,10871288,10792506,10764404,10679481,10581143,10331943,9707407,9535909,9535905,9443444,9430691,9373149,9278444,9155619,8873667,8798588,8631994,8389684,8125298,8028021,1646158,16189514,1696265,12761501,7715640,15709751,12149451,1850831,11124251,12506110,12907686,18267319,18162455,18089569,18085635,18079109,18068673,18047584,17922338,17895291,17885214,17878326,17760848,17687502,17624368,17572641,17551925,17541973,17486593,17420259,17401374,17275998,17259707,17189315,17183550,17143533,17072341,16958087,16891658,16886200,16823880,16820904,16820096,16816024,16741927,16684925,16677845,16675599,16674815,16647893,16638984,16580773,16480955,16442184,16424398,16407179,16378922,16361362,16319124,16219735,16112082,16103109,16010294,15987459,15979566,15978203,15948121,15944608,15870276,15817491,15704645,15576650,15551259,15534005,15489334,15334670,15181016,15140236,15108203,14974090,14766937,14729836,14713573,14702389,14681024,14667880,14639017,14519646,17901047,17898133,13130072,12881039,12861055,12840075,12804600,12767974,12730291,12717835,12644583,12637502,12619876,12619863,12489165,12484567,12477932,12457340,12452056,12417300,12397213,12270943,12205082 1582666,1582667,1582668,1580398 2697 NM_000165,AF151980,AL139098,CH471051,U64573,AK223289,BC026329,CR541660,CR593006,M65188,X52947 NP_000156,AAD37802,CAI20002,EAW48178,BAD97009,AAH26329,CAG46461,AAA52131,CAA37122,P17302,Q53FJ6,ABM84575,ABM86537 Hs.74471 GDB:125196 CX43|DFNB38|GJAL|ODDD gap junction membrane channel protein alpha 1 protein-coding 1603289 GJA10 gap junction protein, alpha 10, 62kDa Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 12881038 84694 NM_032602,AJ414565,AL353692,CH471051,AF296766 NP_115991,CAC93847,CAI16242,EAW48537,AAK51676,Q969M2,AAI40394,AAI46475 Hs.334499 CX62|RP11-63K6.6 protein-coding 1352663 GJA1P1 gap junction protein, alpha 1, 43kDa pseudogene 1 11741837,1646158 2698 NG_003029,AC010228,M65189 GDB:125920 gap junction protein, alpha 1, 43kda (connexin 43) pseudogene 1 pseudo 1351768 GJA2 gap junction protein, alpha 2, 38kDa (connexin 38) 2699 GDB:125244 1349664 GJA3 gap junction protein, alpha 3, 46kDa 1599824,1580863 12808044,12477932,11980479,9413992,10205266,17893674,17615540,17492548,16971895,16885921,16254549,15489334,15467523,15286166,15208569,15057823,14627959,11739633,10746562,9664032,9199569,7342922,1964417,1849321 1599824 2700 NM_021954,AF075290,AL138688,CH471075,BC121137,BF726530,DR003755 NP_068773,AAD42925,EAX08251,AAI21138,Q9Y6H8 Hs.130313 GDB:125245 CX46|CZP3 gap junction protein, alpha 3, 46kda (connexin 46) protein-coding 731518 GJA4 gap junction protein, alpha 4, 37kDa This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. 1580400,1580398,1580863,1626626,1626615,1626412 16361362,7680674,17922338,17196598,16710414,16677656,15982495,15504903,15489334,15481066,15194487,14667880,12477932,11375929,10728596,10447790,9843209,9617570,9546360,9020357,8761439,8586454,2167375,1964417,1688855,1370487 1580400,1580398,1626626,1626615,1626412 2701 NM_002060,AF132674,AF139100,AF139101,AF139102,AF139103,AF139104,AF139105,AL121988,CH471059,AF180815,AF181620,AK291563,AU103361,BC027889,BC072389,M96789 AAA52558,P35212,Q5JW71,Q9UBA9,ABM92225,NP_002051,AAF62342,AAD31869,AAD31870,AAD31871,AAD31872,AAD31873,AAD31874,CAB90268,CAI20290,EAX07440,EAX07441,AAD56533,AAD56940,BAF84252,AAH27889,AAH72389 Hs.296310 GDB:127818 CX37 gap junction membrane channel protein alpha 4 protein-coding 736164 GJA5 gap junction protein, alpha 5, 40kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. 1580393,1580398,704404,1580863 16646598,16600287,16545451,16361362,16189514,16188595,15489334,15297374,15193866,15117819,15094345,14766937,12594044,12477932,12435353,12397213,12064615,11557558,10873295,10792506,10728420,10581143,10336839,7966354,17922338,17546509,17189315,16814413,16790700,16710414,9617570,9523149,9119381,8561862,7877871,1964417,1310450 1580393,1580398 2702 NM_005266,NM_181703,AF151979,AL365260,CH471223,L34954,U03486,AF074995,BC013313,BQ231177,BT019415,BT019416,CR592992 NP_005257,NP_859054,AAD37801,EAW50929,EAW50930,AAA91833,AAA60457,AAH13313,AAV38222,AAV38223,P36382,ABM82815,ABM86001 Hs.447968 GDB:127819 CX40|MGC11185 gap junction membrane channel protein alpha 5 protein-coding 2291775 GJA6P gap junction protein, alpha 6, pseudogene 15611570 100126825 NG_007152,Z92542 pseudo 732563 GJA8 gap junction protein, alpha 8, 50kDa 1598963,704409,1580863 18334966,18334946,18006672,17724170,17601931,17546509,17412882,16740131,16604058,16397066,12808044,11944087,11023900,9664032,9479004,8549164,1491428,396131,9497259,7796604 1598963,704409 2703 NM_005267,AF217524,AL445591,CH471223,U34802,AI364417 NP_005258,AAF32309,EAW50926,AAA77062,P48165,AAI40364,AAI46508 Hs.632441 GDB:696369 CAE|CAE1|CX50|CZP1|MP70 gap junction membrane channel protein alpha 8 protein-coding 1353099 GJA9 gap junction protein, alpha 9, 59kDa Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 1580863 15489334,12881038,12477932,8889548 81025 NM_030772,AF179597,AL139260,CH471059,AF271261,AK123051,BC051675,BI463634,BU689816 NP_110399,AAG09406,CAI23051,EAX07289,AAK55516,AAH51675,P57773 Hs.632402 GDB:11510052 CX58|CX59|GJA10|MGC50985 protein-coding 732555 GJB1 gap junction protein, beta 1, 32kDa Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells (Bergoffen et al., 1993 [PubMed 8266101]). For a general discussion of connexin proteins, see GJB2 (MIM 121011).[supplied by OMIM] 704404,1580863 9184217,8266101,2875078,18379723,18267319,17714866,17620124,17569045,17565422,17546509,17372902,17353473,17200131,17052905,16790356,16373087,16344560,12542510,12536289,12497641,12477932,12477701,12460545,12402337,12362307,12325071,12207932,12205082,12111842,11891346,11835375,11723288,11571214,11562788,11545686,11438991,11437164,11393532,11295246,11180613,11140841,11030070,11024208,10938190,10923043,10894999,10873293,10852921,10737979,10732813,10586284,10581193,10234007,10220155,9888385,9856562,9818870,9633821,9592087,9469569,9401007,9361298,9272161,9187667,9099841,9018031,8990008,8956046,8889588,8889549,8842374,8829637,8807343,8757034,8737658,8733054,8698335,8628473,8567789,8390988,8162049,8004109,16096811,16079393,15947997,15852376,15782139,15704645,15703409,15685554,15508871,15489334,15470753,15468313,15383278,15334670,15241803,15192806,15006706,14960772,14688024,14663144,14627639,12849984,12775342,12717835,12707076,7833935,7477983,2460334,1674715,1319395,1318266,125246,16189514 2705 NM_001097642,NM_000166,AL590762,CH471132,L47127,S83322,S83323,AA041403,BC002805,BC022426,BC039198,BI764356,BT019329,DA081668,X04325 NP_001091111,NP_000157,EAX05305,EAX05306,AAA75086,AAH02805,AAH22426,AAH39198,AAV38136,CAA27856,P08034,ABM84441,ABM87493 Hs.333303 GDB:125246 CMTX|CMTX1|CX32 gap junction membrane channel protein beta 1 protein-coding 1351211 GJB2 gap junction protein, beta 2, 26kDa Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into 2 categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (MIM 121014) is designated alpha-1 gap junction protein, whereas CX32 (GJB1; MIM 304040) and CX26 are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that CX32 and CX26 are more homologous to each other than either of them is to CX43.[supplied by OMIM] 1580863 17949297,17935238,17909436,17903576,17786286,17704708,17695503,17672988,17672987,17666888,17661817,17660464,17615163,17614106,17581693,17568408,17567889,17567887,17553572,17551008,17505205,17485979,17455295,17444514,17431919,17428836,17428550,17426645,17406097,17394388,17381453,17368814,17365058,17357124,17313762,17299707,1324944,9139825,9482292,11719551,18454068,18411733,18353197,18338563,18324688,18316665,18300439,18294064,18294049,18288393,18274916,18267319,18261328,18196482,18191019,18167282,18089569,18075246,17993581,17989577,17290388,17276518,17253936,17227765,17203385,17041943,17041897,17036313,16877344,16849369,16840571,16777986,16773579,16713631,16650419,16647893,16570074,16532460,16425640,16407179,16406239,16380907,16379542,16379178,16371502,16344560,16283880,16258398,16243461,16226720,16222667,16158474,16154643,16125251,16088916,16012344,15996220,15967879,15964725,15954104,15932734,15895291,15878206,15870276,15858675,15857852,15857182,15855033,15841999,15832357,15770735,15744158,15704645,15700112,15670746,15666300,15656949,15638823,15635064,15633193,15617546,15592461,15577772,15547683,15547423,15547422,15504600,15502644,15489334,15482471,15479191,15464308,15464305,15386363,15365987,15359540,15345117,15337980,15334670,15288505,15274422,15253766,15242756,15236885,15226564,15219044,15148174,15146474,15140236,15138772,15113126,15064611,15057823,15033936,15025729,14985372,14979964,14978038,14759569,14735592,14722929,14719096,14700667,14694360,14681046,14681041,14660916,14643477,14595769,14556203,14534413,14520102,14505035,12925341,12904681,12865758,12851846,12844145,12835856,12833397,12810983,12792423,12786758,12768774,12767933,12752120,12746422,12701741,12684873,12668604,12624506,12560944,12557263,12548749,12530196,12527132,12522692,12522556,12505163,12501766,12497637,12490065,12484567,12477932,12420583,12417772,12393046,12384781,12384501,12372058,12239718,12212857,12189493,12189487,12176179,12176036,12174613,12172394,12172392,12169891,12167443,12121355,12112666,12111646,12110573,12107817,12081719,12072059,12068628,12064630,12064627,12042301,11980479,11977173,11968091,11960582,11935342,11912510,11896458,11872644,11872627,11846738,11788203,11748849,11668644,11603757,11587277,11584050,11556849,11493200,11483639,11445873,11439000,11438992,11432967,11409864,11386851,11354642,11313763,11313751,11298683,11216657,11162081,11134236,11076062,11074495,11073548,10982182,10982180,10830906,10807696,10757647,10713833,10633135,10633133,10607953,10422812,10376574,10369869,10218527,9856479,9819448,9620796,9600457,9592087,9529365,9471561,9422505,9373149,9358053,9336442,9328482,8978770,8136828,8125298,7881423,2956987,1850831,16189514 2706 NM_004004,AF281280,AF479776,AL138688,AY255853,AY275646,AY275648,AY275649,AY275650,AY275651,AY275652,AY275653,AY275654,AY280971,AY953438,AY953441,CH471075,U43932,AA947181,AA962716,AK225966,BC017048,BC071703,BT006732,DA287424,M86849 NP_003995,AAF91440,CAC16959,AAL87696,AAP34178,AAQ94940,AAQ94942,AAQ94943,AAQ94944,AAQ94945,AAQ94946,AAQ94947,AAQ94948,AAQ17213,AAY25169,AAY25170,EAX08252,EAX08253,AAD14840,AAH17048,AAH71703,AAP35378,AAD21314,P29033,ABM82723,ABM85906 Hs.524894,Hs.591234 GDB:125247 CX26|DFNA3|DFNB1|HID|KID|NSRD1|PPK gap junction protein, beta 2, 26kda (connexin 26) protein-coding 1347813 GJB3 gap junction protein, beta 3, 31kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. 1300214,1580863 10790215,10757647,10594760,10587579,9843210,9843209,9126484,8035838,9704026,18338563,17672988,16710414,16549784,16406239,16341674,16297190,16077902,15489334,15276679,14583444,12702148,12630965,12477932,12176042,12165562,12154091,12019212,11309368,10798362 1300214 2707 NM_024009,NM_001005752,AF099730,AJ004856,AL121988,CH471059,AF052692,AK026139,AL547036,BC012918,BC110640,BE673240,BM763034,BM846348 NP_076872,NP_001005752,AAC95471,CAA06165,CAB90269,EAX07442,AAD11816,AAH12918,AAI10641,O75712 Hs.522561 GDB:127820 CX31|DFNA2|EKV|FLJ22486|MGC102938 gap junction protein, beta 3, 31kda (connexin 31) protein-coding 1352157 GJB4 gap junction protein, beta 4 1598970,1598971,1580863 16297190,14702039,14583444,12648223,12477932,11933201,11420600,11017804,1512260,148984 1598970,1598971 127534 Q9NTQ9 NM_153212,AL121988,CH471059,CS300805,AK057628,BC034709 NP_694944,CAB90270,EAX07443,CAK32469,AAH34709,Q9NTQ9,ABM82250,ABM85434 Hs.351203,Hs.675868 GDB:9864291 CX30.3|EKV|MGC21116 gap junction protein, beta 4 (connexin 30.3) protein-coding 732046 GJB5 gap junction protein, beta 5 1580863 9843209,16710414,15489334,12477932 2709 NM_005268,AF099731,AL121988,CH471059,AF052693,AK129509,BC004379 NP_005259,AAC95472,CAB90271,EAX07444,AAD18005,AAH04379,O95377 Hs.198249 GDB:9864293 CX31.1 gap junction membrane channel protein beta 5 protein-coding 1349249 GJB6 gap junction protein, beta 6, 30kDa The connexin gene family codes for the protein subunits of gap junction channels that mediate direct diffusion of ions and metabolites between the cytoplasm of adjacent cells. Connexins span the plasma membrane 4 times, with amino- and carboxy-terminal regions facing the cytoplasm. Connexin genes are expressed in a cell type-specific manner with overlapping specificity. The gap junction channels have unique properties depending on the type of connexins constituting the channel.[supplied by OMIM] 1599828,1580863 16222667,16125251,16076412,15964725,15792634,15656949,15638823,15489334,15464308,15464305,15345117,15342556,15150777,15140236,15064611,15025729,14759569,14595769,14571368,12872268,12865758,12788524,12767933,12477932,12419304,12172392,11896458,11874494,11807148,11668644,11245683,11017065,10737800,10471490,9606177,9215774,8845850,8621942,7737190,16303743,10610709,18338563,18294049,17989577,17786286,17695503,17672988,17666888,17615163,17438853,17426645,17368814,17357124,16773579,16406239,16344560 1599828 10804 AY789474,AY789475,AY789476,BC038934,BE181310,BE185135,BP227986,DA165219,DB339720,DC295753,NM_001110219,NM_001110220,NM_001110221,AJ005585,AL355984,CH471075,CQ783358,AK075247,AK289592,AY297110,NM_006783 AAV67951,AAV67952,AAV67953,AAH38934,O95452,NP_006774,NP_001103689,NP_001103690,NP_001103691,CAA06611,CAI14832,EAX08254,EAX08255,EAX08256,EAX08257,EAX08258,CAF86564,BAF82281,AAP51162 Hs.511757,Hs.706191 GDB:9958357 CX30|DFNA3|ED2|EDH|HED gap junction protein, beta 6 (connexin 30) protein-coding 1346461 GJB7 gap junction protein, beta 7, 25kDa Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 12881038,12477932,12108537,14574404,15489334 375519 NM_198568,AJ414563,AL096817,AL139274,AL160258,AK127554,BC057813 NP_940970,CAC93845,CAH70467,AAH57813,Q6PEY0 Hs.146727 CX25|MGC71746|bA136M9.1|connexin25 protein-coding 1350984 GJC1 gap junction protein, gamma 1, 45kDa This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. 1580398,1580863 7966354,17546509,17189315,16463142,16344560,14766937,14702039,14667880,12477932,12452056,12064615,12064590,10377174,10336839,9523149,11557048,15489334,15146197 1580398 10052 NM_001080383,NM_005497,AC005180,CH471178,U03493,AK098274,AK124339,BC096213,BC096214,BC096215,BC096216,CN299428,CR594677,CR603321,CR933719,DA845933 NP_001073852,NP_005488,EAW51577,AAA60458,AAH96213,AAH96214,AAH96215,AAH96216,CAI46249,P36383,Q5H9P2 Hs.660494,Hs.707501 GDB:9954936 CX45|DKFZp686P0738|GJA7|gja7 gap junction protein, alpha 7, 45kDa|gap junction protein, alpha 7, 45kda (connexin 45) protein-coding 1346209 GJC2 gap junction protein, gamma 2, 47kDa This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. 18094336,17344063,17031678,16969684,16710414,15489334,15192806,12843301,12805295,12477932,8889548 57165 NM_020435,AF014643,AL359510,CH471098,AY285161,BC035840,BC089439,BU739494,CF132637 NP_065168,AAB94511,CAI15069,EAW69860,AAP37488,AAH35840,AAH89439,Q5T442 Hs.100072 GDB:11510054 CX46.6|Cx47|GJA12|MGC105119|PMLDAR protein-coding 1353703 GJC3 gap junction protein, gamma 3, 30.2kDa Connexins, such as GJC3, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 1580863 15293232,12900929,12881038,12690205,12477932,12151525 349149 NM_181538,AC011904,CH236956,CH471091,AF503615,AY297109,BC038207,BC038208,BC043381 NP_853516,EAL23863,EAW76624,AAM21145,AAP51161,AAH43381,Q86XI9,Q8NFK1,AAI48671,AAI56595 Hs.647524 GDB:11510838 CX30.2|CX31.3|Cx29|GJE1 protein-coding 733205 GJD2 gap junction protein, delta 2, 36kDa This gene is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. 1300300 17828386,17427027,16876983,16211561,15489334,15235036,15116387,15083701,14565956,12522556,12477932,10462698 1300300 57369 NM_020660,AB037509,AC087457,AF153047,CH471125,BC069131,BC069339,BC112110,BC112114 NP_065711,BAA90429,AAD54234,EAW92315,AAH69339,AAI12111,AAI12115,Q9UKL4 Hs.283816 CX36|GJA9|MGC138315|MGC138319 gap junction membrane channel protein alpha 9 protein-coding 1319005 GJD3 gap junction protein, delta 3, 31.9kDa This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. 1580863 12154091,18291099,17142249,16772377,12881038,12176752,12064584 125111 NM_152219,AC080112,AF514298,AY093445,CH471152,AK125254 NP_689343,AAM53649,AAM18801,EAW60660,BAC86102,Q8N144,AAI53090 Hs.444663 GDB:11510056 CX31.9|Cx30.2|GJA11|GJC1 gap junction protein, chi 1, 31.9kda (connexin 31.9) protein-coding 1603351 GJD4 gap junction protein, delta 4, 40.1kDa Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM] 16303743,12881038,12477932 219770 NM_153368,AL121749,CH471072,CQ782432,AJ414564,AK074504,BC035898 NP_699199,CAH73708,EAW85910,EAW85911,CAF85719,CAC93846,BAC11028,AAH35898,Q8IV12,Q96KN9,AAI56175,AAI57015 Hs.638922,Hs.670506 CX40.1|FLJ90023|RP11-425A6.2 protein-coding 1344759 GK glycerol kinase Glycerol kinase (EC 2.7.1.30) catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate.[supplied by OMIM] 1580863,1601343 8401584,16549535,15845384,15489334,14654354,12636049,12477932,10851254,10737976,10736265,9719371,8884278,8651297,8499912,8499898,7987308,2982325,2159212,2081587 1601343 2710 BM906503,BX647604,L13943,NM_203391,NM_000167,AC005913,AC112496,AC117404,AJ252550,CH471074,AA689298,BC018009,BC037549,BC042421,BC071595,BG400692,X68285,X69886 AAA52576,NP_976325,NP_000158,CAB54857,CAB54858,CAB54859,EAW99053,EAW99054,EAW99055,EAW99056,AAH37549,AAH42421,AAH71595,CAA48346,CAA49512,P32189,Q6IQ27,ABM82506,ABM85699 Hs.1466 GDB:119271 GK1|GKD protein-coding 1353777 GK2 glycerol kinase 2 1580863 7987308,12477932 2712 NM_033214,AC079345,CH471057,BC027598,BC029820,BC048274,BC058888,BI830891,X78712 NP_149991,EAX05842,AAH29820,AAH48274,AAH58888,CAA55365,Q14410,Q6PD73,Q86XV8,ABM82247,ABM85431 Hs.98008 GDB:386057 GKP2|GKTA protein-coding 1344552 GK3P glycerol kinase 3 pseudogene 1580863 7987308,12477932,9847074 2713 NG_000861,AC055120,AC107059,BC066960,X78711 AAH66960,CAA55364,Q14409,Q6NXP9 Hs.654557 GDB:433249 GKP3|GKTB|gkp3 glycerol kinase pseudogene 3 pseudo 1348347 GK4P glycerol kinase 4 pseudogene 7987308 2716 NG_001127,AL672207,X78714 GDB:433258 GKP6 glycerol kinase pseudogene 6 pseudo 1606415 GK5 glycerol kinase 5 (putative) 14702039,12477932 256356 AK130469,BC032470,BU628781,BX648359,BX648681,CR598125,NM_001039547,AC108679,CH471052,AK090901,AK127641 BAC87068,AAH32470,Q6ZS86,ABM82533,ABM85726,NP_001034636,EAW78974,EAW78975,EAW78976,BAC03542 Hs.135904,Hs.706584 FLJ33582|FLJ45739|MGC40579 protein-coding 1605845 GK6P glycerol kinase 6 pseudogene 201989 NG_004742,AC110373 pseudo 1347477 GK7P glycerol kinase 7 pseudogene 8499912,7987308 2711 NG_001126,X78713 GDB:386054 GKP1|gkp1 glycerol kinase pseudogene 1 pseudo 1315863 GKAP1 G kinase anchoring protein 1 1580863 16713569,16189514,12477932,10671526 80318 NM_025211,AL354733,AL354920,AL662787,CH471089,AB033131,AB033132,AF319476,AJ420456,AK058198,BC014476 NP_079487,CAI16010,CAI16011,CAH70734,CAH70735,CAH70736,EAW62665,EAW62666,BAB40454,BAB40455,AAG40320,BAB71712,AAH14476,Q5VSY0,Q5VSY1,ABM83176,ABM86376 Hs.522255 FKSG21|FLJ25469|GKAP42|RP11-162J2.1 protein-coding 1351595 GKN1 gastrokine 1 The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. 1302499,1580863 10835488,17092786,15961882,15924415,15489334,12975309,12851218,12477932,11562744 1302499 56287 NM_019617,AC114802,AY139182,CH471053,AB039886,AJ966789,AK098489,AL833013,AY139184,AY359050,AY456961,BC059778 NP_062563,AAY24066,AAN75447,EAW99859,BAA92433,CAI85015,CAH56295,AAN75449,AAQ89409,AAR21211,AAH59778,Q53YU7,Q658S4,Q9NS71 Hs.69319 AMP18|BRICD1|CA11|FOV|MGC70354|foveolin protein-coding 1606131 GKN2 gastrokine 2 17982272,16888721,15924415,15774165,12975309,12921637,12477932 200504 NM_182536,AC114802,CH471053,AF494509,AJ966788,AY358664,AY943908,BC110809 NP_872342,EAW99860,AAO85515,CAI85014,AAQ89027,AAY24521,Q86XP6,AAI40336,AAI46485 Hs.16757 GDDR|PRO813|TFIZ1|VLTI465 protein-coding 1351874 GKP4 glycerol kinase pseudogene 4 7987308 2714 GDB:433256 1344140 GLA galactosidase, alpha This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. 1601350,1580863 39940,16372133,6256390,1332979,2160973,3029062,18205205,18023222,17804462,17592721,17555407,17263716,16972173,16899426,16754800,16595074,16531566,16511611,16344560,15895718,15776423,15772651,15712228,15489334,15339079,15003450,12938095,12477932,12471562,12370426,12360745,12360742,12033283,11882018,11828341,11775551,11668641,11295840,11076046,10666480,10208848,10090526,9630664,9620884,9373149,9110171,9105656,9100224,8931708,8875188,8863162,8834244,8807334,8543175,8425221,8395937,8380905,8125298,8069316,7959728,7911050,7759078,7626884,7599642,7596372,7575533,7531540,7504405,7503918,3036505,3014515,2892762,2836863,2542896,2539398,2171331,2152885,1846223,1315715 1601350 2717 NM_000169,NG_007119,AL035422,CH471115,M13571,M18242,M20317,U78027,X14448,AK222627,AK291095,BC002689,BT006864,CR605654,CR607242,CR617861,D00039,DB370480,X05790,X16889 NP_000160,CAB55878,EAX02862,EAX02863,AAA51676,AAA52514,AAA52559,AAB64203,CAA32617,BAD96347,BAF83784,AAH02689,AAP35510,BAA34059,CAA29232,P06280,Q53HF3,Q53Y83,Q6LER7,ABM81647,ABM84825 Hs.69089 GDB:119272 GALA protein-coding 1349453 GLAT galactose enzyme activator 1192801,164654 2718 GDB:119273 1347574 GLB1 galactosidase, beta 1 The GLB1 gene encodes beta-galactosidase-1 (EC 3.2.1.23), a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates (Yoshida et al., 1991 [PubMed 1907800]). Beta-galactosidase also occurs in a complex with neuraminidase (NEU1; MIM 608272) and protective protein/cathepsin A (PPCA; MIM 256540), which is a component of certain cell surface receptors (Hinek, 1996 [PubMed 8922281]). See also galactosylceramidase (GALC; MIM 606890) (EC 3.2.1.46), a genetically distinct beta-galactosidase that is involved in the catabolism of other lipid compounds.[supplied by OMIM] 1598983,1598984,1580863 16314420,16263699,15907791,15714521,15489334,15365997,14987258,12644936,12515396,12477932,12393180,11511921,10891505,10841810,10839995,10737981,10571006,10338095,9501080,9497360,9373149,9203065,8922281,8910459,8670798,3143362,17353931,18217416,17664528,17661814,17522702,17309651,16941474,16626397,16538002,16344560,16314480,8500799,8383699,8213816,8199591,8198123,8125298,7693577,7586649,6807121,6791574,3922758,3921454,3102233,3084469,2511208,2111707,1928092,1909871,1909089,1907800,1606711,1487238,1353343,113895,110522,16189514 1598983,1598984 2720 NM_001079811,AC112211,CH471055,S59584,AK130133,AK222763,AK223091,AU134179,NM_000404,BC007493,BT007147,CR613034,CR622020,CR626233,DA077250,DB504658,M22590,M27507,M27508,M34423 NP_000395,NP_001073279,EAW64442,EAW64443,EAW64444,EAW64445,AAB19814,BAD96483,BAD96811,AAH07493,AAP35811,AAA51822,AAA51819,AAA35599,AAA51823,P16278,Q16007,Q53G40,Q53H18,ABM81615,ABM84797 Hs.443031 GDB:119987 EBP|ELNR1 protein-coding 1319832 GLB1L galactosidase, beta 1-like 737633,1580863 14702039,12975309,12477932 737633 79411 NM_024506,AC068946,CH471063,AK055098,AK074393,AY358639,BC003523,BC028370 NP_078782,EAW70711,EAW70712,EAW70713,BAB70855,AAQ89002,Q6UWU2 Hs.181173 MGC10771 protein-coding 1606483 GLB1L2 galactosidase, beta 1-like 2 16303743,12975309,12477932 89944 NM_138342,AP000859,AP003971,CH471065,AF173889,AK074703,AK074750,AK074855,AK074947,AY358497,BC008326,BC040641,BX640934 NP_612351,EAW67842,EAW67843,EAW67844,AAQ13636,BAC11149,BAC11179,BAC11247,BAC11309,AAQ88861,AAH08326,AAH40641,Q8IW92,Q8NCG3 Hs.436178 MST114|MSTP114 protein-coding 1603928 GLB1L3 galactosidase, beta 1-like 3 16554811,15489334,14702039,12477932 112937 NM_001080407,AP000859,CQ782642,AK074712,AK124514,BC011001,BC040605,BC063875,BC131702,CX760372 NP_001073876,CAF85896,BAC11155,AAH11001,AAH63875,Q8NCI6 Hs.436178 FLJ90231 protein-coding 1345592 GLC1B glaucoma 1, open angle, B (adult-onset) 8812425 2722 GDB:1297553 1349670 GLC1C glaucoma 1, open angle, C 9012402 2723 GDB:3801941 1350911 GLC1D glaucoma 1, open angle, D (adult-onset) 2724 GDB:9484963 1347214 GLC1F glaucoma 1, open angle, F (adult-onset) 2726 GDB:9732370 1352465 GLC1H glaucoma 1, open angle, H (adult-onset) 399564 1344649 GLC1I glaucoma 1, open angle, I 497188 1345712 GLC2A glaucoma 2, angle closure 2727 GDB:433725 1348594 GLC3B glaucoma 3, primary infantile, B 8842741 2728 GDB:3801939 1345194 GLC3C glaucoma 3, primary congenital, C 399565 1347258 GLCCI1 glucocorticoid induced transcript 1 17081983,16964243,15489334,14702039,12690205,12557054,12477932,11591653 113263 NM_138426,CH236948,CH471073,AK055741,AK093655,AK126731,AL832860,AL833694,BC011254,BC050291,BG719015 NP_612435,EAL24302,EAW93607,EAW93608,AAH11254,AAH50291,Q86VQ1 Hs.131673 GDB:11508391 FAM117C|GIG18 protein-coding 1607059 GLCE glucuronic acid epimerase 15853773,17985344,14718527,14702039,12477932,11279150,11274177,10048485,8889549 26035 NM_015554,AC026512,AC026992,CH471082,AA393928,AB020643,AK002188,AY635582,BC026096,N41364,W87397 NP_056369,EAW77837,BAA74859,AAT48654,O94923 Hs.183006 HSEPI|KIAA0836 protein-coding 1318561 GLDC glycine dehydrogenase (decarboxylating) The enzyme system for cleavage of glycine (glycine cleavage system; GCS; 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), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). Glycine encephalopathy (GCE; MIM 605899) may be due to a defect in any one of these enzymes; see MIM 238310, MIM 238330, and MIM 238331.[supplied by OMIM] 1580863 2268343,1996985,17361008,16601880,16482509,16404748,16344560,15864413,15851735,15824356,14552331,12477932,12402263,11592811,11286506,10873393,10798358,6790577,6778858,2773994,1993704,1634607 2731 NM_000170,AF246134,AL162411,AL353718,CH471071,AI480362,AW593954,BC111993,BC111995,D90239,DA741442,DR002916,M63635,M64590 NP_000161,AAK28443,CAH69992,CAH74116,EAW58739,EAW58740,AAI11994,AAI11996,BAA14286,AAA36478,AAA36463,P23378,Q2M2F8,Q5VYQ9,Q9HDA3 Hs.584238 GDB:128611 GCE|GCSP|HYGN1|MGC138198|MGC138200|NKH glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein p) protein-coding 1348388 GLDCP glycine dehydrogenase (decarboxylase) pseudogene 9847074,7945295,2268343 2732 NG_003012,AC108215 GDB:392343 pseudo 1344164 GLDN gliomedin 1302401 16039564,14702039,12975309,12642876,12477932 1302401 342035 NM_181789,AC020891,CH471082,AK023623,AK095128,AK172756,AY358144,BC113397,BC113399,BK001262,BX538105,CR590325 NP_861454,EAW77418,EAW77419,BAD18742,AAQ88511,AAI13398,AAI13400,DAA01143,CAD98018,Q14DE1,Q6ZMI3 Hs.526441 CLOM|COLM|CRG-L2|CRGL2|FLJ23917|UNC-112 collomin protein-coding 1316460 GLE1 GLE1 RNA export mediator homolog (yeast) This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 12668658,12477932,9373149,8125298,16189514,14645504,9618489,18204449,16000379,15489334,15164053,14702039 2733 AL117584,BC030012,BM786801,CR592600,AK290533,NM_001003722,NM_001499,AL356481,AL445287,CH471090,AA806769,AF058922,AK001767,AK074801,AK222842,AK222854 BAF83222,CAB56006,AAH30012,Q53GS7,ABM86235,ABW03696,NP_001003722,NP_001490,CAH71402,CAH71403,EAW87802,EAW87803,EAW87804,AAC25561,BAD96562,BAD96574 Hs.522418 GDB:9848718 GLE1L|LCCS|LCCS1|hGLE1 protein-coding 734388 GLG1 golgi apparatus protein 1 1580863 7531823,8985126,15797922,14743216,14702039,12754519,12684670,12477932,11404363,9182700,9099943,8530051,2355176,1448090 2734 NM_012201,AC009053,AC009153,AC109599,CH471114,AK025457,AK026972,AK027032,AK095842,AK131501,AK172806,BC031836,BC040133,BC060822,BG719482,BI561038,CR615957,U28811,U64791 NP_036333,EAW95682,EAW95683,EAW95684,EAW95685,EAW95686,BAD18645,BAD18777,AAH60822,AAB02178,AAB06460,Q6P9D1,Q6ZMF1,Q6ZMT0,Q92896 Hs.201712 GDB:637230 CFR-1|ESL-1|FLJ23319|FLJ23967|MG-160|MG160 selectin, endothelial cell, ligand protein-coding 1344225 GLI1 glioma-associated oncogene homolog 1 (zinc finger protein) This gene encodes a protein which is a member of the Kruppel family of zinc finger proteins. The function of this gene has not been determined; however, it may play a role in normal development gene transcription. Mouse mutation studies indicate possible involvement in human foregut malformation. 9118802,10564661,10806483,11238441,12165851,10504446,18281251,18203291,17638910,17628016,17461467,17392427,17196391,17179732,17115028,17102592,17018598,17007023,16887337,16880536,16786128,16701100,16537020,16434164,16293631,16229683,16003737,15905200,15606671,15555571,15489334,15314219,14611647,16189514,15175043,15111311,15024701,14555646,12907651,12477932,12426310,12221011,12138125,11948912,11717126,11032829,10951255,10559945,9731531,9524201,8378770,3563490,2850480,2832761,2497059,1320124 2735 NM_005269,AC022506,AF316573,CH471054,BC013000,X07384 NP_005260,AAM13391,EAW97013,AAH13000,CAA30297,P08151 Hs.632702 GDB:119988 GLI protein-coding 1606840 GLI2 GLI-Kruppel family member GLI2 This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. 9557682,15175043,15994174,8378770,12165851,18006803,17638910,16953426,16651270,16553965,16434164,16327884,16192985,14691458,12917489,11238441,11160734,10806483,10564661,10074179,9731531,8812445,8350401,8150204,2850480,2832761,14581620 2736 NM_005270,AC016764,AC017033,M20672,M20673,AB007295,AB007296,AB007297,AB007298,AB209354,AY493737,AY493738,AY493739,BC111410,D14827,D14828,DQ004396,DQ004397,DQ004398,DQ086814 Q0VGA0,Q1PSW9,Q1PSX1,Q4JHT4,Q59FV5,Q6RSW0,Q6RSW1,Q6RSW2,P10070,NP_005261,AAA35898,BAA25665,BAA25666,BAA25667,BAA25668,BAD92591,AAS72889,AAS72890,AAS72891,AAI11411,BAA03568,BAA03569,AAY58315,AAY58316,AAY58317,AAY87165 Hs.111867 GDB:119989 HPE9|THP1|THP2 protein-coding 1314553 GLI3 GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. 1599838,1580863 10564661,10806483,11238441,9054938,10077605,18252217,18057317,18057099,18000979,17764085,17400206,17283082,17081983,17029207,16705181,16371461,15811011,15739154,15390181,14608643,12853948,12794692,12575661,12575660,12545275,12477932,12435627,12414818,12142027,10678662,10441570,10441342,10075717,9847074,9843199,9402960,9354785,9302279,8378770,7566098,2850480,2118997,1879832,14611647 1599838 2737 NM_000168,AC005026,AC005028,AC005158,AC073852,AJ250408,CH236951,CH471073,M20674,AA330409,AK308429,BC113616,BC117168,BF194991,M57609 NP_000159,AAP21869,AAS01998,AAS02015,CAB59315,EAL24002,EAW94144,EAW94145,AAI13617,AAI17169,AAA52564,P10071 Hs.21509 GDB:119990 ACLS|GCPS|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV protein-coding 1354466 GLI4 GLI-Kruppel family member GLI4 1580863 17081983,15489334,12477932,8641133,2850480 2738 NM_138465,AC138696,CH471162,M20678,M20679,AB209654,AI829114,AY129020,BC014165,BI761835 NP_612474,EAW82268,AAA35990,BAD92891,AAM98763,AAH14165,P10075,Q6YL39,ABM83871 Hs.400533 GDB:119991 HKR4 protein-coding 1314328 GLIPR1 GLI pathogenesis-related 1 (glioma) This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863 18199537,18030365,17825796,16714093,15489334,14871827,14702039,12477932,11971968,10720702,9482873,8973356,7607567 11010 NM_006851,AC022507,AC121761,CH471054,CQ834266,CQ834312,AF400440,BC005227,BC012510,CA421777,CB123261,EF667354,U16307,X91911 NP_006842,EAW97306,EAW97307,EAW97308,CAH05348,CAH05371,AAK92489,AAH12510,ABV21587,AAA82731,CAA63005,P48060 Hs.205558 CRISP7|GLIPR|RTVP1 protein-coding 1605255 GLIPR1L1 GLI pathogenesis-related 1 like 1 12477932,16714093,15489334,15340161,12975309 256710 NM_152779,AC121761,CH471054,AY358731,BC014603 NP_689992,EAW97301,EAW97302,AAQ89093,AAH14603,Q6UWM5,ABM84946,ABW03638 Hs.567788 ALKN2972|MGC26856|PRO7434 protein-coding 1606963 GLIPR1L2 GLI pathogenesis-related 1 like 2 16714093,14702039,12477932 144321 NM_152436,AC121761,CH471054,AK093175,BC016749,BC029557,BC032022,BX640916 NP_689649,EAW97303,EAW97304,EAW97305,BAC04085,AAH16749,AAH29557,CAE45957,Q4G1C9,ABM82459,ABM85648 Hs.406728 MGC39497 protein-coding 1343612 GLIS1 GLIS family zinc finger 1 GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM] 1580863 16417217,14702039,14500813,12477932,12042312 148979 NM_147193,AC105280,AL049745,AL591720,AL603915,CH471059,AK090634,AK093474,BC101799,BC104911 NP_671726,EAX06734,BAC03494,BAC04178,AAI01800,AAI04912,Q5VTL4,Q8NBF1,ABZ92209 Hs.306691 FLJ36155 protein-coding 1345602 GLIS2 GLIS family zinc finger 2 Members of the Kruppel-like zinc finger protein family, such as GLIS2, function as activators and/or repressors of gene transcription.[supplied by OMIM] 1580863 17618285,17344476,17289029,14702039,14500813,11741991,11738817 84662 AK096936,NM_032575,AC012676,CH471112,AF325914,AK095566,AK124985,AK126918 NP_115964,EAW85317,EAW85318,AAK00954,Q9BZE0,AAI41549,AAI46549 Hs.592087 FLJ38247|NPHP7 protein-coding 1348907 GLIS3 GLIS family zinc finger 3 This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. 737633,1580863 16715098,16189514,15489334,14702039,14500813,12477932 737633 169792 DQ438894,DQ438895,DQ438896,DQ438897,DQ438898,DQ438899,DQ438900,DQ438901,DQ438902,DQ438903,DQ438904,DQ438905,DQ438907,DQ438889,DQ438890,DQ438891,DQ438892,NM_001042413,DQ438893,NM_152629,AL133283,AL137071,AL158012,AL162419,AL359095,AA933816,AB065086,AB209404,AK055907,AK075059,AK096318,BC033899,DQ438877,DQ438878,DQ438879,DQ438880,DQ438886,DQ438887,DQ438888 ABE66446,ABE66447,ABE66448,ABE66449,ABE66450,ABE66451,ABE66452,ABE66453,ABE66454,ABE66455,ABE66456,ABE66457,ABE66458,Q1PHI1,Q1PHI2,Q1PHI3,Q1PHJ0,Q1PHJ1,Q1PHJ2,Q1PHJ7,Q1PHJ8,ABE66444,ABE66441,ABE66442,ABE66443,ABE66445,NP_001035878,NP_689842,CAI39818,BAB93523,BAD92641,AAH33899,ABE66434,ABE66435,ABE66436,ABE66437,ABE66438,ABE66439,ABE66440,Q1PHK2,Q1PHK3,Q1PHK4,Q1PHK5,Q59FQ6,Q5VZV9,Q8NEA6,Q8NI64,ABZ92210 Hs.162125,Hs.644570 FLJ38999|FLJ90578|MGC33662|ZNF515 protein-coding 1315584 GLMN glomulin, FKBP associated protein This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. 1598992 12904573,12752563,12477932,11329013,10945476,10364524,10051602,8955134,11571281,11164950,12604780,11845407,16344560,15489334 1598992 11146 NM_053274,AJ302727,AJ302728,AJ302729,AJ302730,AL451010,CH471097,AJ302735,AJ347709,AK130581,BC001257,BG187128,CR610554,CR624143,DA729622,U73704 NP_444504,CAC88124,CAH70761,EAW73097,EAW73098,CAC82938,CAC69882,AAH01257,AAC50908,Q5VVC2,Q5VVC3,Q92990 Hs.49105 FAP|FAP48|FAP68|FKBPAP|GLML|GVM|VMGLOM protein-coding 1350387 GLO1 glyoxalase I The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. 1580863 11489834,10807791,16130169,7684374,18413187,18079478,17722011,17463067,17346350,16803681,16555297,16352396,16344560,16305054,15950319,15489334,14574404,12942785,12604221,12477932,11963573,11785295,11513094,11436564,10564821,10521255,9705294,9593316,9218781,8670058,8449929,1686020,1602151,1150236,910130,511191,141008,16189514 2739 NM_006708,AF146651,AL391415,CH471081,AB209801,AK129573,AK130312,AL833442,BC001741,BC011365,BC015934,BT019987,BT019988,BU954454,CR596001,CR603414,CR610558,CR615049,CR617753,CR618038,CR619737,CR623176,CR625986,D13315,DA342581,L07837,S83285 NP_006699,AAD38008,CAI21586,EAX03964,EAX03965,BAD93038,AAH01741,AAH11365,AAH15934,AAV38790,AAV38791,BAA02572,AAA52565,AAB49495,Q04760,Q59EL0,Q8WUR2 Hs.268849 GDB:119992 GLOD1|GLYI protein-coding 1315949 GLOD4 glyoxalase domain containing 4 15489334,14702039,12897971,12621583,12528892,12477932,11642406,10810093 51031 CR592137,CR595057,CR601449,CR603503,CR604225,CR607351,CR609415,CR611267,CR615687,CR617060,CR618520,CR619295,CR619919,CR621780,CR623217,NM_016080,AC087392,CH471108,AF061730,AF151908,AF177342,AF177343,AK001488,AK122678,AK226083,AK292315,BC008605,BC010902,BC015848 AAH15848,Q9HC38,Q9Y3E8,NP_057164,EAW90643,EAW90644,EAW90645,EAW90646,EAW90647,EAW90648,EAW90649,EAW90650,AAG43141,AAD34145,AAG17986,AAG17987,BAA91719,BAF85004,AAH08605 Hs.279061 C17orf25|CGI-150|HC71 chromosome 17 open reading frame 25 protein-coding 1603816 GLOD5 glyoxalase domain containing 5 392465 NM_001080489,AC115617 NP_001073958,A6NK44 Hs.437539 protein-coding 736638 GLP1R glucagon-like peptide 1 receptor 1624350,1624351,1624349,1624356,1580863 7517895,8405712,7589461,17475961,17444618,16931572,16644694,15975668,15686481,15670850,15528268,15489334,15364163,14574404,12477932,12034449,11116211,11076863,10990079,10382665,9213353,8404634,8392011,8216285,8112494,7843404 1624350,1624351,1624349,1624356 2740 U10037,NM_002062,AB065685,AL035690,AY439112,CH471081,U66062,BC112126,BC113493,L23503,U01104,U01156,U01157 AAA63787,AAA62471,NP_002053,BAC05908,CAB71177,AAR05444,EAX03970,EAX03971,EAX03972,EAX03973,EAX03974,AAB64013,AAI12127,AAI13494,AAA17021,AAA03614,AAC50050,P43220,AAI11844 Hs.389103 GDB:137218 MGC138331 protein-coding 731561 GLP2R glucagon-like peptide 2 receptor The GLP2 receptor (GLP2R) is a G protein-coupled receptor superfamily member closely related to the glucagon receptor ans GLP1 receptor. Glucagon-like peptide-2 (GLP2) is a 33-amino acid proglucagon-derived peptide produced by intestinal enteroendocrine cells. Like glucagon-like peptide-1 (GLP1) and glucagon itself, it is derived from the proglucagon peptide encoded by the GCG gene. GLP2 stimulates intestinal growth and upregulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. Moreover, GLP2 prevents intestinal hypoplasia resulting from total parenteral nutrition. GLP2R, a G protein-coupled receptor superfamily member is expressed in the gut and closely related to the glucagon receptor (GCGR) and the receptor for GLP1 (GLP1R). 632881,1580863 9990065,16448646,16401478,15817468,15670850,15544847,15471943,12477932,11738243,11238747,10982769 632881 9340 NM_004246,AC026591,CH471108,AF105367,BC019818,BC041176,BC043390,BC096261,BC096262,BC096263,BC096264 NP_004237,EAW90015,EAW90016,AAD16895,AAH19818,AAH41176,AAH43390,AAH96261,AAH96262,AAH96263,AAH96264,O95838,Q4VAT1,Q4VAT2,Q4VAT4,Q86XI5,Q86YG9,Q8WUR8 Hs.248202 GDB:9956026 protein-coding 730939 GLRA1 glycine receptor, alpha 1 The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha and beta subunits. The GLRB gene (MIM 138492) encodes the beta subunit of the receptor.[supplied by OMIM] 704404,1598573,1580863 2155780,8137830,15748848,11929858,11973623,8298642,7506679,18292428,18043720,18036150,17887775,17655760,17534957,17469203,17434460,17181559,17040914,16941485,16832093,16361257,16344560,16144831,16109711,16078201,15952785,15951389,15771552,15489334,15489161,15365143,15287733,15147510,14981077,14698963,14593111,14563849,14525990,12954867,12826676,12766618,12746425,12740384,12679369,12667090,12661758,12477932,12356883,12239220,12237328,12080117,11994009,11981021,11981020,11781706,11702206,11580237,10514101,9920650,9373149,9350397,9067762,8973915,8733061,8651283,8571969,8125298,7981700,7925268,7920629,7881416,7806244,7611730,1845981,1355335 1598573 2741 NM_000171,AC010312,AC091982,CH471062,U77732,AK226046,BC074980,BC114947,BC114967,DA749850,X52009 NP_000162,EAW61656,EAW61657,AAB38405,AAH74980,AAI14948,AAI14968,CAA36258,P23415,Q14C71,Q6LC95 Hs.121490 GDB:118801 MGC138878|MGC138879|STHE glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome) protein-coding 731909 GLRA2 glycine receptor, alpha 2 1580863 2155780,16344560,16144831,15489334,15302677,15147510,12477932,11409700,9674912,8973915,8889549 2742 NM_002063,NM_001118885,NM_001118886,AC003658,AC003683,AF053495,CH471074,U77731,AA081959,AK289561,AK312591,AY437083,AY437084,BC032864,BC045547,CR450343,DA495302,X52008 NP_002054,NP_001112357,NP_001112358,AAC35290,EAW98858,EAW98859,EAW98860,AAB38272,AAB38273,BAF82250,BAG35485,AAR87842,AAR87843,AAH32864,CAG29339,CAA36257,P23416 Hs.2700 GDB:120625 GLR protein-coding 732840 GLRA3 glycine receptor, alpha 3 1580863,704404 16344560,15489334,12477932,12358726,11496371,10737800,9677400 8001 NM_001042543,NM_006529,AC093868,AC107216,AC131948,AF017724,CH471056,AF018157,BC036086,BI600831,CV381684,DA409556,U93917 NP_001036008,NP_006520,AAY40916,AAC39919,EAX04730,EAX04731,EAX04732,EAX04733,AAC39918,AAH36086,AAC39917,O75311,Q4W595,Q9UPF3,ABM81900,ABM85074 Hs.413099 GDB:9954418 protein-coding 1602141 GLRA4 glycine receptor, alpha 4 441509 NM_001024452,AL049610,Z93848 NP_001019623,CAI42158,Q5H965 Hs.533289 protein-coding 731361 GLRB glycine receptor, beta The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha (GLRA1, MIM 138491; GLRA2, MIM 305990) and beta subunits.[supplied by OMIM] 1598573,1580863 15748848,8717357,11929858,15215304,15489334,14698963,14563849,12477932,10395998,9676428,7546736 1598573 2743 NM_000824,AC079403,CH471056,AF094754,AF094755,BC022502,BC032635,U33267 NP_000815,EAX04872,EAX04873,AAC71033,AAC71034,AAH32635,AAB37750,P48167,ABM81785,ABM84940 Hs.32973 GDB:5875373 glycine receptor, beta subunit protein-coding 736383 GLRX glutaredoxin (thioltransferase) 1580863 7851394,16884690,18309294,17976641,17272816,17185628,17064412,16893901,16311508,15637068,15489334,15342556,15297967,15184054,12892645,12723971,12556467,12477932,12244106,12029072,11832487,11297543,11274078,11222536,11146114,11024467,10737800,10508218,10350489,10037490,9860827,9677297,9417094,9332366,9325327,8838810,8645179,8549805,8019414,8018729,7961993 2745 NM_002064,NM_001118890,AC008821,AF115105,CH471084,DQ026062,AF069668,AF162769,AW128930,AW792936,BC005304,BC010965,BC106075,BE738446,BP196332,BX106369,CR450312,CR542165,CR593859,CR611519,CR618562,D21238,X76648,BT006689 NP_002055,NP_001112362,AAC98318,EAW96054,EAW96055,EAW96056,EAW96057,AAY29058,AAC35798,AAD43353,AAH05304,AAH10965,AAI06076,CAG29308,CAG46962,BAA04769,CAA54094,P35754,ABM83423,ABM86635,AAP35335 Hs.28988 GDB:574099 GRX|GRX1|MGC117407 glutaredoxin 1 (thioltransferase) protein-coding 1317443 GLRX2 glutaredoxin 2 Glutaredoxins (e.g., GLRX; MIM 600443) are a family of glutathione-dependent hydrogen donors that participate in a variety of cellular redox reactions.[supplied by OMIM] 11297543,11397793,18076901,17961515,17546662,17121859,17115894,17065220,16710414,15917333,15649413,15489334,15328416,15297967,15184054,14676218,12477932,10810093,9325327 51022 NM_197962,NM_016066,AL136370,CH471067,DQ194815,AF132495,AF151891,AY038988,BC009669,BC028113,BU157087,AF290514 NP_932066,NP_057150,CAI10820,CAI10821,EAW91248,EAW91249,ABA03170,AAF37320,AAD34128,AAK72499,AAH09669,AAH28113,Q9NS18,AAK83089 Hs.458283 GDB:9285117 GRX2|bA101E13.1 protein-coding 69462 GLRX3 glutaredoxin 3 69393,1580863 10636891,17353931,15489334,14702039,12477932,11124703,9373149,8125298,16189514 69393 10539 NM_006541,AL139123,CH471066,AF118649,AF118652,AJ010841,AK022131,AK225609,BC005289,BC014372,CR602310,CR608749,CR625408,CR625572 NP_006532,CAC40691,EAW49152,EAW49153,EAW49154,EAW49155,AAF28841,AAF28844,CAA09375,AAH05289,AAH14372,O76003,Q5JV01 Hs.42644 GDB:9957602 FLJ11864|GLRX4|GRX3|GRX4|PICOT|TXNL2|TXNL3|bA500G10.4 protein-coding 1318119 GLRX5 glutaredoxin 5 17485548,16110529,15489334,12477932,9325327 51218 NM_016417,AL133467,CH471061,CS185633,AB223038,AF113691,AI089763,BC023528,BC047680,BC071690,BC105275,BI259789,BI834047,BX248075,CR598908,CR622540,DQ083331 NP_057501,EAW81606,EAW81607,CAJ42814,BAF02301,AAF29586,AAH23528,AAH47680,CAD62364,AAZ30731,Q0X088,Q86SX6,Q9P1N5 Hs.532683,Hs.706880 C14orf87|FLB4739|GRX5|MGC14129|PR01238|PRO1238 chromosome 14 open reading frame 87 protein-coding 2292183 GLRXL glutaredoxin (thioltransferase)-like 100132510 XM_001718080,XM_001722858,XM_001725190,NM_001123388,AC091944,CH471062 XP_001718132,XP_001722910,XP_001725242,NP_001116860,EAW61540,EAW61541 protein-coding 1346424 GLRXP glutaredoxin (thioltransferase) pseudogene 11702225,11696981 170522 NG_001013,AF227512,AL109614 GDB:11506077 bA425M5.1 pseudo 1347944 GLRXP2 glutaredoxin pseudogene 2 11702225 171418 NG_001323,AF358259,AL355074 pseudo 736636 GLS glutaminase Sahai (1983) [PubMed 6825316] demonstrated phosphate-activated glutaminase (EC 3.5.1.2) in human platelets. It is the major enzyme yielding glutamate from glutamine. Significance of the enzyme derives from its possible implication in behavior disturbances in which glutamate acts as a neurotransmitter (Prusiner, 1981). High heritability of platelet glutaminase was indicated by studies of Sahai and Vogel (1983) [PubMed 6682827] who found an intraclass correlation coefficient of 0.96 for monozygotic twins and 0.53 for dizygotic twins.[supplied by OMIM] 1300048,1580863 10719215,11015561,17669570,15642443,15496140,15489334,15246207,14759258,14722097,14702039,12579526,12477932,11163757,11130979,11059811,10620514,10048485,8896557,8499480,6825316,6682827,3531404 2744 NM_014905,AC005540,AC067945,AC079162,CH471058,AB020645,AF097492,AF097493,AF097495,AF158555,AF223943,AF279697,AF327434,AK001220,AK092974,AK289747,BC038507,BM148085,CR749593,Y08264 NP_055720,AAY24320,AAY24182,AAY14767,EAX10856,EAX10857,EAX10858,EAX10859,EAX10860,BAA74861,AAF00088,AAF00089,AAF00090,AAD47056,AAF33825,AAG17700,AAG47842,BAF82436,AAH38507,CAH18392,O94925,Q53RX0,Q53S89,Q53TX0,Q68D38 Hs.116448 GDB:119993 AAD20|DKFZp686O15119|FLJ10358|GLS1|KIAA0838 protein-coding 1604019 GLS2 glutaminase 2 (liver, mitochondrial) The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. This protein is functionally similar to the kidney glutaminase but is a little smaller in size. Originally thought to be liver-specific, this protein has been found in other tissues as well. At least one transcribed pseudogene has been found for this gene. 10620514,11163757,18088378,17669570,16637659,15496140,14675161,12477932,12444921,12163477,11130979,9110174,8619474 27165 NM_013267,AC097104,AF348119,CH471054,AF038170,AF110329,AF110330,AF110331,AF223944,AF279698,AK000467,AK289471,BC025661,BC036929,BC048344,BC059370,BC119767,BC119768,BI916699,CR624702 NP_037399,AAO13298,EAW96942,EAW96943,EAW96944,EAW96945,AAF21934,AAF33826,AAG17701,BAF82160,AAH59370,AAI19768,AAI19769,Q0VD99,Q6PCD6,Q8IX91,Q9HB62,Q9UI32,AAI66649,AAF21933 Hs.212606 GA|GLS|LGA|MGC71567|hLGA protein-coding 1606714 GLT1D1 glycosyltransferase 1 domain containing 1 14702039,12477932,8218172,2341393,2283726,2649653 144423 NM_144669,AC069262,CH471054,AK056540,BC033953,BC043528,CR626112 NP_653270,EAW98497,EAW98498,BAB71209,AAH43528,Q96MS3 Hs.655668 FLJ31978 protein-coding 1344980 GLT25D1 glycosyltransferase 25 domain containing 1 737633,1580863 16303743,14702039,12477932,9373149,8218172,2649653,2341393,2283726 737633 79709 NM_024656,AC010618,CH471106,CS051385,AK025982,AK057140,AK074941,AK075541,AK225397,AL831905,BC020492,BC071684,BC081531,BC108308,CR624961 NP_078932,EAW84621,EAW84622,EAW84623,EAW84624,CAI72187,BAB15308,BAC11307,BAC11684,AAH20492,AAH71684,AAI08309,Q6IPW8,Q8NBJ5,Q8WUI9 Hs.418795 FLJ22329|MGC117270 protein-coding 1602008 GLT25D2 glycosyltransferase 25 domain containing 2 14702039,12477932,11318611,9628581,8218172,2649653,2341393,2283726 23127 NM_015101,AL157943,AL592299,CH471067,AB011156,AF288389,AK095090,AK095192,AK127287,BC019709,BC035672,DR761966 NP_055916,CAI14721,CAI14722,CAI14723,EAW91170,EAW91171,EAW91172,BAA25510,AAG60609,AAH19709,AAH35672,Q5SXQ3,Q5SXQ5,Q8IYK4,Q8WUS1 Hs.387995 C1orf17|FLJ37771|FLJ37873|KIAA0584 protein-coding 1350682 GLT6D1 glycosyltransferase 6 domain containing 1 1580863 8218172,2649653,2341393,2283726 360203 NM_182974,AL354761,CH471090,AY336054 NP_892019,CAI17203,EAW88171,AAQ01588,Q5T6T3,Q7Z4J2,AAI48648 Hs.522491 GLTDC1 protein-coding 1348884 GLT8D1 glycosyltransferase 8 domain containing 1 This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Three alternatively spliced variants encoding the same isoform have been described. 14702039,12975309,12477932,8218172,2649653,2341393,2283726 55830 CR749821,NM_001010983,NM_152932,AC104446,CH471055,AF157318,AF175227,AF176777,AJ271710,AK027517,AK075031,AY358579,BC119670,BC119671,BF725274,BG700867,BG831844,CR606193,CR614748,CR615891,CR620036,CR621721,CR625296,NM_018446 CAH18681,Q68CQ7,Q7Z4D0,NP_060916,NP_001010983,NP_690909,EAW65253,EAW65254,EAW65255,EAW65256,AAF67484,AAQ13652,AAQ13655,CAC19666,BAB55170,BAC11363,AAQ88942,AAI19671,AAI19672 Hs.297304 AD-017|DKFZp781O20198|FLJ14611|MSTP139 protein-coding 1353062 GLT8D2 glycosyltransferase 8 domain containing 2 737633,1580863 15489334,14702039,12975309,12477932,8218172,2649653,2341393,2283726 737633 83468 NM_031302,AC078819,CH471054,AJ271711,AK027310,AK056056,AY358763,BC022343 NP_112592,EAW97730,EAW97731,CAC19667,BAB55033,BAB71085,AAQ89123,AAH22343,Q9H1C3 Hs.631650 FLJ31494 protein-coding 1606923 GLT8D3 glycosyltransferase 8 domain containing 3 14702039,12477932 283464 CR590862,NM_001099650,NM_173601,AC023513,CH471111,AK021504,AK021752,AK125141,AL832209,BC015597,BC030023,BC039145 Q4G148,NP_001093120,NP_775872,EAW57832,EAW57833,AAH15597,AAH30023,AAH39145 Hs.259347 FLJ43151 protein-coding 1625085 GLT8D4 glycosyltransferase 8 domain containing 4 12477932 727936 NM_001080393,AC098481,AC114876,BC127733 NP_001073862,AAI27734,A0PJZ3 Hs.710275 protein-coding 1602720 GLTP glycolipid transfer protein The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. 15287756,15901739,18261224,17980653,17320476,17105344,16169991,15504043,15489334,15329726,12477932,10671554,10653652,8889548,2190982 51228 NM_016433,AC007834,CH471054,AF209704,AY372530,AY372531,AY372532,BC009932,BQ227117,CA310913 NP_057517,EAW97880,EAW97881,EAW97882,AAF33210,AAR85984,AAR85985,AAR87373,AAH09932,Q53Z13,Q9NZD2 Hs.381256 protein-coding 2289752 GLTPD1 glycolipid transfer protein domain containing 1 12477932 80772 NM_001029885,AL139287,CH471183,AL122073,BC004366,BC072454,BC098429,CR599582 NP_001025056,CAI23183,EAW56230,EAW56231,CAB59248,AAH04366,AAH98429,Q5TA50,Q9UFH6 Hs.515689 MGC10334 protein-coding 1604453 GLTPD2 glycolipid transfer protein domain containing 2 12477932 388323 NM_001014985,AC109333,CH471108,BC029290,BC150536 NP_001014985,EAW90408,AAI50537,A6NH11 Hs.131035 protein-coding 2290027 GLTPP1 glycolipid transfer protein pseudogene 1 18261224 645312 XM_928351,XM_001723886,XM_001133500,NG_007407,AC090099,AY039109 XP_933444,XP_001723938,XP_001133500 pseudo 1314970 GLTSCR1 glioma tumor suppressor candidate region gene 1 15834925,12117772,10708517 29998 BC032065,BX362862,NM_015711,AC008985,AC010519,CH471126,AA961479,AA994408,AF182077 AAF62874,Q9NZM4,AAI56273,NP_056526,EAW57503,EAW57504 Hs.97244 GDB:9992795 protein-coding 1353107 GLTSCR2 glioma tumor suppressor candidate region gene 2 1580863 10196275,17890897,17657248,16971513,15635413,15489334,15355975,14702039,12477932,12429849,11790298,10708517,9373149,8125298 29997 AC008745,CH471126,AF182076,AF296124,AK024486,AK225915,AL122063,AL359335,AL359336,AY535000,BC004229,BC006311,BC007248,BC010095,BC013203,BC013235,BC013307,BC014009,BC039869,CR590467,CR591907,CR595527,CR597440,CR598229,CR598483,CR600044,CR600868,CR601341,CR602831,CR602925,CR603780,CR604074,CR604535,CR605735,CR609531,CR610138,CR611227,CR611242,CR613245,CR614208,CR614362,CR615162,CR617912,CR618822,CR618849,CR619993,CR620661,CR620917,CR622359,CR624154,CR624324,NM_015710 NP_056525,EAW57507,EAW57508,EAW57509,EAW57510,AAF62873,AAG30413,BAB15776,CAB59242,CAB94786,CAB94787,AAS46028,AAH04229,AAH06311,AAH07248,AAH10095,AAH14009,Q53YP0,Q7L4X7,Q96CS0,Q9H7J4,Q9NZM5,ABM83650,ABM86899 Hs.421907 GDB:9992797 PICT-1|PICT1 protein-coding 733213 GLUD1 glutamate dehydrogenase 1 L-glutamate dehydrogenase (EC 1.4.1.3) has a central role in nitrogen metabolism in plants and animals. Glutamate dehydrogenase is found in all organisms and catalyzes the oxidative deamination of 1-glutamate to 2-oxoglutarate (Smith et al., 2001 [PubMed 11254391]). Glutamate, the main substrate of GLUD, is present in brain in concentrations higher than in other organs. In nervous tissue, GLUD appears to function in both the synthesis and the catabolism of glutamate and perhaps in ammonia detoxification (Mavrothalassitis et al., 1988 [PubMed 3368458]).[supplied by OMIM] 1300048,1580863,1302513,1601353 15578726,6121377,15609325,16492972,16151898,15750346,15489334,15378063,15273247,15164054,15044002,14760703,14702039,12653548,12477932,12324473,12193607,12054821,12022886,11950837,11903050,11872671,11840195,11297618,11254391,11214910,10636977,10338089,9571255,9373149,8486350,8314555,8244384,8125298,3997814,3585334,3426581,3399399,3377777,3368458,2757358,1286669,429360,14743216 1302513,1601353 2746 NM_005271,AL136982,CH471142,S60498,X66300,X66312,AB209406,AK094782,AK122685,AK222818,BC040132,BC112946,J03248,M17697,M20867,M37154,X07674,X07769 NP_005262,CAI17120,EAW80300,EAW80301,EAW80302,EAW80303,EAW80304,CAA46994,CAA46996,BAD92643,BAD96538,AAH40132,AAI12947,AAA52523,AAA52524,AAA52526,AAA52525,CAA30521,CAA30598,P00367,Q14400,Q53GW3,Q59FQ4,Q9UQV0 Hs.500409 GDB:119994 GDH|GDH1|GLUD|MGC132003 protein-coding 1352274 GLUD2 glutamate dehydrogenase 2 Glutamate dehydrogenase (EC 1.4.1.3) catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate using NAD and/or NADP as cofactors. See also GLUD1 (MIM 138130).[supplied by OMIM] 1580863 8207021,15578726,17924438,15952740,15772651,15750346,15489334,15378063,15044002,12477932,12054821,11999891,11950837,9674910,9109504,8486350,8288265,2365355,16189514 2747 NM_012084,AC006144,U08997,X66310,BC005111,BC050732 NP_036216,AAD05030,AAA20969,CAA46995,AAH05111,AAH50732,P49448,Q9BSD0 Hs.368538 GDB:9954793 GDH2|GLUDP1 protein-coding 1344222 GLUDP2 glutamate dehydrogenase pseudogene 2 8486350,8244384,8111403,2364112 2748 X66319,X73122,NG_001128,AL391137,X66313,X66315 GDB:137195 pseudo 1348207 GLUDP3 glutamate dehydrogenase pseudogene 3 8486350,8244384 2749 NG_002763,AC022400,X66316,X66317,X66318 GDB:137196 pseudo 1346498 GLUDP4 glutamate dehydrogenase pseudogene 4 8486350,3368458 2750 NG_005046,AC098847,X66314 GDB:138338 pseudo 1353618 GLUDP5 glutamate dehydrogenase pseudogene 5 15489334,15164054,12653548,12054821,11903050,11297618,11254391,11214910,10636977,10338089,9571255,8486350,8401522,8314555,3585334,3426581,3399399,3377777,3368458,1286669,429360 2751 X69219,NG_001129,X67491 CAA47830 GDB:138339 pseudo 1343185 GLUDP6 glutamate dehydrogenase pseudogene 6 414209 1345817 GLUDP7 glutamate dehydrogenase pseudogene 7 414212 1350734 GLUDP8 glutamate dehydrogenase pseudogene 8 414213 730955 GLUL glutamate-ammonia ligase (glutamine synthetase) Glutamine is a main source of energy and is involved in cell proliferation, inhibition of apoptosis, and cell signaling (Haberle et al., 2005 [PubMed 16267323]). Fetal glutamine requirements are very high and depend largely on active glutamine synthesis and the release of glutamine into the fetal circulation by the placenta. Glutamine synthetase (EC 6.3.1.2), also called glutamate-ammonia ligase (GLUL), is expressed throughout the body and plays an important role in controlling body pH and in removing ammonia from the circulation. The enzyme clears L-glutamate, the major neurotransmitter in the central nervous system, from neuronal synapses (see references in Clancy et al., 1996 [PubMed 8975719]).[supplied by OMIM] 1300048,1580863 8921392,8975719,7923146,7909780,2888076,2856920,1681907,18192886,18005987,17627080,17197094,16710414,16609938,16537434,16267323,16189514,16095760,15642443,15489334,15231748,14760703,14702039,12477932,12160938,10681395,10520940,9263280,9260745,9107685 2752 NM_001033044,NM_002065,NM_001033056,AL139344,AY486123,CH471067,AK092874,AK122784,AL161952,AY486122,AY513283,AY947343,BC010037,BC011700,BC011852,BC018992,BC031964,BC051726,BC127883,BG771732,BX537384,CD688156,CR593676,CR607019,CR608505,CR614928,S70290,X59834,Y00387 NP_001028216,NP_002056,NP_001028228,CAI19842,AAS57905,EAW91116,EAW91117,EAW91118,EAW91119,EAW91120,EAW91121,EAW91122,CAB82304,AAT08036,AAY57874,AAH10037,AAH11700,AAH11852,AAH18992,AAH31964,AAH51726,AAI27884,CAD97626,AAS57904,AAB30693,CAA42495,CAA68457,P15104,Q2TU80,Q9NSP3,ABM84204,ABM87608 Hs.518525 GDB:120626 GLNS|GS|PIG43|PIG59 glutamate-ammonia ligase (glutamine synthase) protein-coding 1344000 GLULD1 glutamate-ammonia ligase (glutamine synthetase) domain containing 1 17010935,16273301,14574404,12107413,12107412 51557 NM_016571,AL121949,AL590456,CH471143,AF242388,BC130366,BC130368,DQ682605,DQ682606 NP_057655,CAI20481,EAW88493,AAF61255,AAI30367,AAI30369,ABG75902,ABG75903,Q0PVN9,Q0PVP0,Q5TDP6 Hs.149585 LGS|MGC163238|MGC163240 glutamate-ammonia ligase (glutamine synthase) domain containing 1 protein-coding 1349044 GLULL1 glutamate-ammonia ligase (glutamine synthetase)-like 1 8921392 2753 NG_003030,AC091982 GDB:3925665 glutamate-ammonia ligase (glutamine synthase)-like 1 pseudo 1350062 GLULL2 glutamate-ammonia ligase (glutamine synthetase)-like 2 8921392 2754 AC011092 GDB:3925667 protein-coding 1343638 GLULL3 glutamate-ammonia ligase (glutamine synthetase)-like 3 8921392 401708 NG_007180,AP002469 GDB:3925671 pseudo 1345808 GLULP glutamate-ammonia ligase (glutamine synthetase) pseudogene 8921392 392305 NG_005208,AL355377 GDB:3925663 pseudo 1316190 GLYAT glycine-N-acyltransferase The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. 9202629,7802672,15489334,15342556,13174534,12477932,10630424,8660675,7833837,931988 10249 NM_201648,NM_005838,AP000445,CH471076,AB013093,AF023466,AI253073,AI793012,AI793201,AW024233,BC009785,BG401676,BG617408,BP277146,CB161978,CR456927,DR004166 NP_964011,NP_005829,EAW73822,EAW73823,EAW73824,AAB81453,AAH09785,CAG33208,Q6IB77,ABM83638,ABM86890 Hs.145384 GDB:9955812 ACGNAT|CAT|GAT protein-coding 1603595 GLYATL1 glycine-N-acyltransferase-like 1 15489334,14702039,12477932,12119397 92292 NM_080661,AP001636,CH471076,AB207212,AF087878,AK055818,AK091965,AK130017,BC008353,BC013929,DQ084381 NP_542392,EAW73828,EAW73829,EAW73830,BAF96748,AAP97178,BAB71023,BAC03779,AAH08353,AAZ31239,Q969I3 Hs.38085,Hs.616909 FLJ26507|FLJ34646|GATF-C|GNAT|MGC15397|MGC15937 protein-coding 1606424 GLYATL2 glycine-N-acyltransferase-like 2 15489334,12477932 219970 AP001652,CH471076,AB207211,AF426250,AW264415,BC016789,BC021682,NM_145016 EAW73826,EAW73827,BAF63415,AAO73139,AAH16789,AAH21682,Q8WU03,NP_659453 Hs.254271 BXMAS2-10|GATF-B|MGC24009 protein-coding 1353928 GLYB glycine B complementing 2757 GDB:119275 1602601 GLYCAM1 glycosylation dependent cell adhesion molecule 1 (pseudogene) 12588680,12057858,10491328 644076 NR_003039,AC079310,AJ489589,AJ489590,AJ489591,AJ489592,AJ489593 CAD34030,CAD34031,CAD34032,CAD34033,CAD34034,Q8IUA8,Q8IVK1 Hs.483519 GDB:11510839 glycosylation dependent cell adhesion molecule 1 pseudo 1604750 GLYCTK glycerate kinase 16753811,16189514,12477932 132158 NM_145262,AC092045,CH471055,AF448855,AF529373,AK074215,AY134474,AY172690,AY189286,AY295075,BC021896,BC036862,BC042151,CR596316,CR605820,CR615748,CR621896,DQ352863 NP_660305,EAW65205,EAW65206,EAW65207,EAW65208,EAW65209,EAW65210,EAW65211,EAW65212,AAP41923,AAQ09607,BAB85018,AAM95456,AAO17719,AAO86730,AAP51132,AAH21896,AAH36862,AAH42151,ABD22985,Q8IVS8,ABZ92208 Hs.415312 GLYCTK1|HBEBP2|HBEBP4|HBeAgBP4A protein-coding 1345588 GLYD glycerate-2-dehydrogenase 2758 GDB:118802 1354017 GLYS1 glycosuria 1, renal 6524599 2759 GDB:136421 1353976 GM2A GM2 ganglioside activator This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. 1598993,1580863 17215249,16341674,15489334,15485660,14728689,12909021,12576516,12477932,11672434,11508694,11090283,10987359,10752311,10364519,9568910,9217013,9204879,8900233,8503891,8288250,8244332,6848657,6724528,3935131,2753159,2209618,2059210,1915858,1915857,1554364,1427911,115863,16189514 1598993 2760 NM_000405,AC008385,AF124717,AF173832,CH471062,BC009273,BM834780,BX473154,CR626644,L01439,M76477,X16087,X61094,X61095,X62078 NP_000396,AAD25741,AAF63788,EAW61680,EAW61681,AAH09273,AAA52767,AAA35907,CAA34215,CAA43407,CAA43408,CAA43993,CAA43994,P17900,Q14427,Q6LBL5,ABM82840,ABM86024 Hs.483873 GDB:120000 SAP-3 protein-coding 1342990 GM2AP GM2 ganglioside activator pseudogene 16478472,16216074,1427911 2761 NG_001130,AB051291,AC069435,L01440 GDB:131484 pseudo 1605349 GMCL1 germ cell-less homolog 1 (Drosophila) This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. 15489334,14702039,12954656,12927808,12493765,12477932,11591818 64395 NM_178439,AC019206,CH471053,AK023119,AK023261,AK024042,BC007420,CR622496 NP_848526,AAY14865,EAW99842,BAB14416,BAB14494,BAB14796,AAH07420,Q53SE7,Q96IK5 Hs.293971 BTBD13|GCL|GCL1 protein-coding 1605348 GMCL1L germ cell-less homolog 1 (Drosophila)-like This locus shares a high degree of identity with the multi-exon germ cell-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ cell-less related protein. 16189514,16201836,16094384,15489334,12477932 64396 NR_003281,AC136632,CH471165,DQ120624,AF198534,BC024184,BC024185,BC033886 EAW53846,ABB92410,AAG28529,AAH24184,AAH24185,AAH33886,Q2VIQ8,Q8NEA9,Q9HBV8,ABM81793,ABM84949,ABM84951 Hs.591738 GCL|GMCL2 pseudo 1322234 GMDS GDP-mannose 4,6-dehydratase 1580863 11698403,9525924,16189514,15489334,14702039,14574404,12477932,11831876,9603974 2762 NM_001500,AL033517,AL034344,AL035693,AL137179,AL158139,AL354670,AL451141,AL591048,CH471087,AF040260,AF042377,AK057484,AK130651,AL561275,BC000117,CR541929,CR541947 NP_001491,CAI20018,CAI20019,CAI19400,CAI19401,CAB65990,CAI16872,CAI22880,EAW55075,AAC24501,AAC13553,AAH00117,CAG46727,CAG46745,O60547,Q5TGM9,ABM83715,ABM87035 Hs.144496,Hs.660919 GDB:9836676 GMD protein-coding 1603227 GMEB1 glucocorticoid modulatory element binding protein 1 This gene is a member of KDWK gene family. The product of this gene associates with GMEB2 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. Two alternative spliced transcript variants encoding different isoforms exist. 10386584,16964243,16497673,15555560,15489334,15231748,14702039,12702733,12477932,11927605,11812797,11743720,10894151,10734202,10692587,10523663,16189514 10691 NM_024482,NM_006582,AL645729,CH471059,AF099013,AF173868,AF203694,AK000892,AK023126,BC001473,CR609157 NP_077808,NP_006573,EAX07676,EAX07677,EAX07678,EAX07679,AAD39355,AAD51352,AAG01189,BAA91410,AAH01473,Q5VSZ6,Q5VSZ7,Q5VSZ8,Q9Y692,ABZ92483 Hs.632373 GDB:9958147 P96PIF|PIF96 protein-coding 736932 GMEB2 glucocorticoid modulatory element binding protein 2 This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. 1580863 10523663,16713569,15489334,12477932,11812797,11780052,11743720,10894151,10574462 26205 NM_012384,AL121907,AL353715,CH471077,AB033095,AF173867,AL117510,AL133646,BC036305,CR593931 NP_036516,CAI22264,CAI22265,CAI17955,CAI17956,EAW75252,EAW75253,EAW75254,BAA86583,AAD51351,CAH56403,CAB63765,AAH36305,Q5TDS1,Q659E7,Q9UKD1,ABZ92228 Hs.473286 GDB:10796179 KIAA1269|P79PIF|PIF79 protein-coding 1343495 GMFA glia maturation factor, alpha 2763 GDB:135037 735553 GMFB glia maturation factor, beta 8798479,8639570,7598724,1712830,16115230,15592455,12477932,9545571,16189514 2764 NM_004124,AL359792,CH471061,AB001106,AB209240,AI342496,BC005359,BI547506,BT006784,BX647679,CR542113,CR603571,M86492,BG622077 NP_004115,EAW80638,EAW80639,BAA19232,BAD92477,AAH05359,AAP35430,CAG46910,AAA58614,P60983,Q59G69,Q9BS35 Hs.151413 GDB:134671 GMF protein-coding 736890 GMFG glia maturation factor, gamma 1298632,1580863 8798479,8639570,7598724,17127212,15489334,12591611,12477932,11042152,10541589,9653160,9545571 1298632 9535 BC093799,BC101818,CR456967,CR542114,NM_004877,AB040440,AC011445,AF108027,CH471126,AB001993,AF038956,BC022207,BC032819,BC061922,BC080180 AAH93799,AAI01819,CAG33248,CAG46911,O60234,NP_004868,BAB86591,AAD27807,EAW56874,BAA25572,AAC39870,AAH32819,AAH80180,Q6IB37,Q8TDZ6 Hs.5210 GDB:9957274 GMF-GAMMA|MGC126867 protein-coding 1344953 GMIP GEM interacting protein This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternatively spliced variants that encode different protein isoforms have been described but their full-length nature has not been determined. 1580863 12093360,16143398,16086184,15375573,12477932,8889548 51291 NM_016573,AC011458,CH471106,AF086104,AF132541,AI073975,BC032057,BC126436,BM666941,BX362896 NP_057657,EAW84838,EAW84839,EAW84840,EAW84841,EAW84842,EAW84843,EAW84844,EAW84845,AAF61330,AAI26437,A0AVN9,Q9P107 Hs.49427 protein-coding 1317284 GML glycosylphosphatidylinositol anchored molecule like protein 1580863 8934543,15489334,12477932,9169150 2765 NM_002066,AB000381,AC083841,CH471162,BC074930,BC126336,BC126338,D84290 NP_002057,BAA19961,EAW82296,AAH74930,AAI26337,AAI26339,BAA12300,Q99445 Hs.661218 GDB:5913640 LY6DL gpi anchored molecule like protein protein-coding 1317736 GMNN geminin, DNA replication inhibitor 1580863 15232106,9635433,18288374,17716975,17261582,17029205,16924111,16629645,16464175,16273206,15489334,15389519,15313623,15291814,15284237,15282313,15257290,15159417,14993212,14973489,14973488,14702039,14574404,12745091,12551974,12477932,12429841,11125146,9671596,9373149,8125298,16189514,15558010,15260975 51053 NM_015895,AL133264,CH471087,AF067855,AK021685,AK222992,AL558330,BC005185,BC005389,BF977182,CR597438,CR609155,CR615209,CR617635 NP_056979,CAC21511,EAW55465,EAW55466,AAC39787,BAD96712,AAH05185,AAH05389,O75496,Q53GD9 Hs.234896 GDB:11510380 Gem|RP3-369A17.3 protein-coding 1607034 GMPPA GDP-mannose pyrophosphorylase A This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. 14702039,12477932,11082198,9373149,8125298,16189514 29926 NM_013335,NM_205847,AC053503,CH471063,AB209592,AF135422,AK000999,AK022578,AK222951,AK290671,BC007456,BC014266,CR591326,CR593058,CR594561,CR596716,CR603625,CR606483,CR610071,CR612168,CR615722,CR617537,CR623396,CR623459,CR625729,CR626618 NP_037467,NP_995319,AAY15053,EAW70755,EAW70756,EAW70757,EAW70758,EAW70759,BAD92829,AAD38517,BAA91460,BAD96671,BAF83360,AAH07456,Q59F69,Q96IJ6,ABM83799,ABM87120 Hs.27059 protein-coding 1607035 GMPPB GDP-mannose pyrophosphorylase B This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. The gene encodes two transcript variants. 15489334,14702039,12975309,12843293,12477932,11347906,11082198,16189514 29925 CR608536,CR618430,CR618645,CR618829,CR622850,NM_021971,AC099668,CH471055,AF135421,AK024319,AK026582,AK291700,BC001141,BC008033,CR590227,CR597958,NM_013334,CR601262 Q9Y5P6,NP_037466,NP_068806,EAW65012,EAW65013,EAW65014,EAW65015,AAD38516,BAB14882,BAF84389,AAH01141,AAH08033 Hs.567488 KIAA1851 protein-coding 733310 GMPR guanosine monophosphate reductase Guanosine monophosphate reductase (EC 1.7.1.7) catalyzes the irreversible NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). GMPR is able to convert guanosine nucleotides to the pivotal precursor of both guanine (G) and adenine (A) nucleotides. It plays an important role in maintaining the intracellular balance of A and G nucleotides.[supplied by OMIM] 1580863,1300048 9813009,15489334,14574404,12477932,12009299,8750194,8188226,2758468,2570640,2364435,2194676,1757097,1694726,1661705 2766 NM_006877,AL009031,AL138883,CH471087,L35304,M27941,BC008281,CR594139,CR610393,M24470 NP_006868,CAI21422,CAI19917,EAW55368,EAW55369,AAA52503,AAA53106,AAH08281,AAA52498,P36959 Hs.484741 GDB:127058 GMPR1 protein-coding 1343245 GMPR2 guanosine monophosphate reductase 2 1580863 15489334,12669231,12477932,12009299,11752456,10737800 51292 NM_001002001,NM_016576,NM_001002002,AL096870,CH471078,AB032903,AF086919,AF135159,AF419346,AK226166,AV660418,BC003053,BC008021,NM_001002000,CR612508,CR611443,CR612422,CR613737,CR615540,CR616348,CR617057,CR620494,CR622349,CR623481,BC009832,BC093039,BE003291,BI259066,BX161436,BX161518,BX247993,BX375671,CA447126,CR457156,CR591357,CR591647,CR592501,CR598318,CR599237,CR599715,CR601664,CR601976,CR604436,CR605753,CR606755,CR607109,CR609928,CR611311 NP_001002001,NP_057660,NP_001002002,EAW66051,EAW66052,EAW66053,EAW66054,EAW66055,EAW66056,EAW66057,EAW66058,BAA93080,AAP97149,AAG09132,AAN32701,AAH03053,AAH08021,NP_001002000,Q6PKC0,Q7Z527,Q86SZ5,Q86T14,Q9P2T1,AAH09832,AAH93039,CAD61908,CAD61951,CAD62327,CAG33437 Hs.368855 GDB:9958278 MGC15084|MGC830 protein-coding 1320749 GMPS guanine monphosphate synthetase In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. 1598998,1580863 8089153,16236267,15489334,12477932,11110714,9373149,9195163,8125298,7706277,7559506,6698284 1598998 8833 AK291504,AK315832,BC012178,BG721087,CB159072,U10860,AC067721,AC104472,AC140753,CH471052,AK223399,NM_003875 BAD97119,BAF84193,BAF98723,AAH12178,AAA60331,P49915,Q53F90,ABM87620,ABW03913,NP_003866,EAW78740,EAW78741 Hs.591314 GDB:435276 protein-coding 1342605 GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 1580863 8530500,9175863,17535809,17056873,16723377,16611642,16365309,16350855,16297597,15863506,15693018,15632174,15623527,15489334,15322542,15057824,14702039,12759536,12670961,12477932,12401211,12130679,11916537,11524429,11507095,10789830,10718832,10598579,10446129,9858594,9481484,9462300,9152406,8836152,8621713,8552586,7797501,7492305,1902575,1302014,16189514,15507206 2767 BC089041,NM_002067,BC096225,BC096226,BC096227,CR457004,CR615254,L40630,M69013,AC005262,CH471139,AB209435,AF011497,AF493900,AK091639,AL110227,BC001528 AAH89041,AAH96225,AAH96226,AAH96227,CAG33285,AAA99949,AAA58624,P29992,Q1ED46,Q59FM5,Q659F3,Q96DH5,NP_002058,AAC25615,EAW69339,EAW69340,BAD92672,AAB64303,AAM12614,CAH56407,AAH01528 Hs.654784,Hs.655202 GDB:132587 GNA-11 protein-coding 732491 GNA12 guanine nucleotide binding protein (G protein) alpha 12 1580863 8290554,10026210,10477691,10648409,11313914,18307725,17878759,17565996,17510313,16787920,16705036,16612612,16247467,15980433,15746095,15525651,15489334,15240885,15221642,14702039,12853948,12690205,12623966,12594220,12515866,12477932,12297512,12176367,12117999,11976333,11598136,11136230,11094164,9796816,9485474,8647866,8552586,8423800,7829508,7791744,16189514,14636890,11546812,14634662,11069896,12761884 2768 BM557907,CA446135,CR622889,L01694,BI553022,NM_007353,AC004933,AC006028,CH236953,CH471144,AF493901,AI381970,AK024696,AK024834,AK025582,AK025894,AK122830,AK127842,AK128701,AL512719,BC007400,BC009457,BC063396,BC087537,BC111464 AAA35867,Q03113,Q5PPR5,Q6ZQV4,Q96GH9,NP_031379,AAD05026,AAP21870,AAP21871,EAL23961,EAW87272,EAW87273,EAW87274,AAM12615,BAC87579,AAH09457,AAH87537,AAI11465 Hs.487341 GDB:137199 MGC104623|MGC99644|NNX3|RMP|gep guanine nucleotide binding protein, alpha 12 protein-coding 1320997 GNA13 guanine nucleotide binding protein (G protein), alpha 13 1580863 7791744,10026210,8999798,17878759,17595347,17510313,17493936,17449226,17081065,17056591,16787920,16601072,16212421,16046415,15761153,15735747,15489334,14702039,14634662,12767884,12681510,12623966,12594220,12515866,12509430,12477932,12399457,12297512,12176367,12135322,12117999,11994484,11976333,11696326,11136230,11094164,11062019,10922491,10821841,10816569,10747909,10644457,10598579,10488065,10395940,9641916,9092554,8824244,8552586,8290554,16189514 10672 NM_006572,AC037487,CH471099,AB075500,AF493902,AK002117,AK026902,BC036756,L22075 NP_006563,EAW88993,EAW88994,EAW88995,EAW88996,AAM12616,AAH36756,AAA74235,Q14344,ABM84498,ABM85374 Hs.515018 GDB:9958123 G13|MGC46138 protein-coding 1317712 GNA14 guanine nucleotide binding protein (G protein), alpha 14 1580863 10191087,1946421,18360038,17620339,16115892,15489334,12477932,11264236,10625681,9862775,8626727,8316840,7797501,16189514 9630 NM_004297,AL158159,AL353794,AL355535,AL359849,CH471089,AF105201,AF493903,BC027886,CR595826 NP_004288,EAW62603,AAD17944,AAM12617,AAH27886,O95837,Q5VYN0,ABM81875,ABM81880,ABM85042,ABW03688 Hs.657795 GDB:9957839 protein-coding 732130 GNA15 guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 1580863 7797501,10571060,8415674,16218966,15489334,15057824,14551213,14535952,12885252,12748287,12670499,12647293,12477932,12401211,12095632,11686331,10973974,10644723,9988720,9843397,9742207,9572309,8863838,7703490,7608160,1905813,1302014,16189514 2769 NM_002068,AC005262,AC005264,CH471139,AF493904,BC013585,BG178215,BT009850,CR594417,M63904 NP_002059,AAC25616,AAC25612,EAW69338,AAM12618,AAH13585,AAP88852,AAA35860,P30679,Q53XK2 Hs.73797 GDB:135686 GNA16 protein-coding 730824 GNAI1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 Guanine nucleotide-binding proteins (G proteins) form a large family of signal-transducing molecules. They are found as heterotrimers made up of alpha, beta, and gamma subunits. Members of the G protein family have been characterized most extensively on the basis of the alpha subunit, which binds guanine nucleotide, is capable of hydrolyzing GTP, and interacts with specific receptor and effector molecules. The G protein family includes Gs (MIM 139320) and Gi, the stimulatory and inhibitory GTP-binding regulators of adenylate cyclase; Go, a protein abundant in brain (GNAO1; MIM 139311); and transducin-1 (GNAT1; MIM 139330) and transducin-2 (GNAT2; MIM 139340), proteins involved in phototransduction in retinal rods and cones, respectively (Sullivan et al., 1986 [PubMed 3092218]; Bray et al., 1987 [PubMed 3110783]). Suki et al. (1987) [PubMed 2440724] concluded that the human genome contains at least 3 nonallelic genes for alpha-i-type subunits of G protein; see, e.g, GNAI2 (MIM 139360), GNAI3 (MIM 139370), and GNAIH (MIM 139180).[supplied by OMIM] 1642020 2834384,15537540,3110783,3139448,18037379,17646583,17416965,17267663,17013094,16775006,16381901,16371464,16004878,15863506,15837785,15657046,15489336,15489334,15242332,14625285,14623889,14602724,14581469,14576516,14530282,12853948,12711604,12629551,12496284,12477932,12297512,12068084,11976690,11955952,11916537,11732925,11507164,11387333,11259487,11256614,11230166,11168387,11076863,10644671,10598591,10488065,10471510,10364213,9748257,9660808,9572280,9207071,9110174,8986788,8619474,8552586,8504751,8183236,8107314,7914078,3130752,3092218,2440724,1953657,1902575,15972662,10978845,10690676,16189514,12860983,14656218,12509430,10973974,11069896,11842095,10840027,11981043,10878019,11980706,12538595,8626678,11306274,15569929 1642020 2770 AC004159,AC080066,CH236949,CH471091,M20594,AF055013,AF493905,AI878901,AK292953,AL049933,BC026326,NM_002069,BT019775,CD299597,CR594203,CR595689,CR600756,CR616478,CR621915,M17219 NP_002060,AAC03418,EAW77009,EAW77010,EAW77011,EAW77012,AAA35893,AAC09361,AAM12619,BAF85642,CAB43212,AAH26326,AAV38580,AAA52581,O43383,P63096,Q0JSI1,CAL38533,ABM83311,ABM86524,ABM86525 Hs.134587 GDB:120001 Gi protein-coding 730993 GNAI2 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 704404,1598461,1580863 1671672,9637720,8587610,7961880,17550964,16565233,16298104,16189514,15640523,15489334,15331550,15312896,15251452,15126921,14702039,14701866,14634662,14623802,12860983,12748287,12624107,12509430,12477932,12359238,12088413,12068084,11955952,11950062,11387333,11369591,11286993,11168387,11120746,11055978,10978845,10906137,10840027,10727522,10644723,10598579,10493819,10471929,9660808,9647645,9237368,9092559,9079700,8986788,8982657,8973305,8903513,8663226,8663057,8663053,8662698,8621645,8554519,8552586,8473899,8362897,8190105,8098045,7962171,7887906,7882989,7737262,3120178,3100330,2837412,2834384,2512386,2502457,2169434,2121366,2116665,2114093,1733849,1718802 1598461 2771 CH471055,NM_002070,U73169,X07854,AF493906,AK055574,AK096299,AK096595,AK126708,AK131062,M20593,U73166,AY677118,BC012138,BC014627,BC016995,CR456783,CR593068,CR599468,CR603761,CR604433,CR606737,CR609921,CR610539,CR618994,J03004,X04828 EAW65051,EAW65052,EAW65053,EAW65054,NP_002061,Q6LCB5,Q93020,Q96C71,ABM83709,ABM86834,AAD12230,AAD12229,CAA30703,AAM12620,EAW65055,EAW65056,AAA35894,AAT78421,AAH12138,AAH14627,AAH16995,CAG33064,AAA52556,CAA28512,P04899,Q6B6N3 Hs.77269 GDB:120516 GIP|GNAI2B|H_LUCA15.1|H_LUCA16.1 protein-coding 1349450 GNAI2L guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2-like 1733849 2772 GDB:120002 731003 GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 1580863 3109953,7608168,2452165,17100651,16511171,16298104,15489334,15251452,12925752,8218170,3132707,12860983,12826607,12509430,12477932,11961076,11955952,11752444,11563974,11443111,11387333,11168387,11055978,10978845,10644457,10633085,10598579,10508224,10092682,10072511,9858594,9647645,9600933,9079700,8986788,8806649,8774883,8663053,8650218,8626678,8552586,8524874,8504751,8316840,3120178,2834384,2440724,2108158,1902575 2773 M27543,AL355310,NM_006496,CH471122,M20604,AF493907,AK130069,BC025285,BT019973,BT019974,CR590664,CR608095,J03005,J03198,J03238 AAA52579,P08754,Q5TZX1,ABM83788,ABM87110,CAI19303,NP_006487,EAW56393,AAA35895,AAM12621,AAH25285,AAV38776,AAV38777,AAA52557,AAA35896,AAA35939 Hs.73799 GDB:119276 87U6|FLJ26559 protein-coding 1349997 GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 1580863 8243272,16818375,16044173,14702039,12782961,12477932,12037684,11901355,11032382,10026232,1302014 2774 NM_182978,NM_002071,AP001120,AP001269,AP005137,CH471113,CQ759976,U55184,AF493893,AK090868,BC050021,CR597962,L10665 NP_892023,NP_002062,EAX01573,EAX01574,CAF32888,AAD00085,AAM12607,BAC03535,AAH50021,AAC37535,P38405,Q86XU3,Q8N2B4 Hs.136295 GDB:132585 protein-coding 731076 GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 1300048,1580863,1302571 1899283,9050846,18262754,16344560,15251452,14702039,12925752,12911629,12860983,12711604,12509430,12477932,12039967,11916537,11732925,11395521,11259487,11124982,11069896,10973974,10926822,10598591,10521440,10330115,10196137,10066808,9660808,9647645,9572280,9359829,9271201,9079700,8986788,8869990,8552586,8393523,8107314,8078296,7887906,7705473,3124840,2518353,1901650,1899868,1556134,1349607,10753665,16189514 1302571 2775 NM_020988,NM_138736,AC009102,AC079411,CH471092,M59927,M60156,M60162,M60164,AF493894,AF493895,AK056008,AL512686,BC012202,BC030027,BX647214,CR936770,DA115582,DA500625,DA529437,M19182,Y18213 NP_066268,NP_620073,EAW82849,EAW82850,AAA52586,AAA52585,AAM12608,AAM12609,AAH12202,AAH30027,CAH10548,AAA52584,CAB46639,P09471,P29777,Q6AWC5,Q8N6I9 Hs.709247 GDB:118803 DKFZp686O0962|G-ALPHA-o|GNAO protein-coding 731425 GNAQ guanine nucleotide binding protein (G protein), q polypeptide Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GTP for GDP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM] 737757,1598475,1580863,1642020 12704201,12670961,12670932,12629551,12626493,12496284,12477932,12193606,12016230,11955952,11916537,11848441,11812005,11753430,11686331,11443126,11408001,11278452,11253162,11194358,11076863,10728414,10598591,10550060,9238049,8825633,9175863,1851174,2841328,9198220,10633085,18096806,17720980,17606614,17535809,17307333,17197445,16995904,16893886,16860758,16650966,16481068,16381901,16218966,16038796,15794946,15698833,15694379,15611106,15489336,15471870,15466861,15383626,15322542,15115661,14617636,14561750,12885252,12807915,12714438,12711604,10488065,10446129,9770463,9700850,9685625,9660808,9488690,9405622,9152406,9061052,8923415,8836152,8664309,8655576,8552586,8504751,8227063,8188646,7791744,7629074,7492305,1333286,12652642,12509430,12748287,14634662,11981043,8863838,15735747 737757,1598475,1642020 2776 BC069520,BC075096,BC075097,L40629,L76256,U40038,U43083,AL160268,AL160278,AL355535,CH471089,AF011496,AF329284,AF493896,BC057777,BC067850,NM_002072 AAH67850,AAH69520,AAH75096,AAH75097,AAA99950,AAB39498,AAC50363,AAB06875,P50148,Q6NT27,CAL37720,CAL38271,CAL38639,NP_002063,CAI12198,CAI15999,EAW62605,EAW62606,EAW62607,EAW62608,EAW62609,EAW62610,AAB64301,AAG61117,AAM12610,AAH57777 Hs.269782 GDB:136262 G-ALPHA-q|GAQ heterotrimeric guanine nucleotide-binding protein alpha q subunit protein-coding 1353631 GNAQP quanine nucleotide binding protein (G protein), q polypeptide pseudogene 8825633 2777 NG_000862,AC022629,AC073869,U40037 GDB:1319087 pseudo 736916 GNAS GNAS complex locus This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. 1580401,1580402,1580403,1580404,1580405,1580406,1580407,1331525,704404,1601377,1601379,1601375,1601376,1601378 7997272,3018580,11256614,9727013,18367996,18362425,18354007,18347176,18258741,18192900,18182455,18075835,18038328,18006055,17991745,17982386,17982384,17962410,17937059,17672918,17652219,17595244,17594522,17566083,17514647,17427647,17388805,17356712,17186357,17164301,17161328,17101633,17062894,17045734,17020971,17008315,16876683,16789633,16789629,16789628,16789627,16789620,1716359,9159128,17353931,10729789,12626323,16575178,12858292,12771991,12756386,12749029,12748287,12719376,12672054,12665801,12656668,12652642,12624854,12621129,12619926,12605446,12488443,12477932,12374764,12364467,12215464,12199346,12147228,12119276,12116190,12106601,12030931,12024004,11968001,11926205,11916537,11910300,11836449,11812005,11784876,16484323,16467086,16442859,16406317,16344560,16315032,16210433,16110341,16081638,16033819,16004878,15894831,15824158,15711092,15701569,15592469,15564881,15537666,15531240,15489334,15479166,15368366,15361543,15242332,15234971,15181091,15148396,15147378,15126527,15112914,15070926,15053924,14991457,14702039,14694347,14561710,14500986,13678786,12970318,12970307,12970263,12862199,11780052,11779226,11729322,11600516,11600515,11583900,11583302,11450852,11297617,11294873,11241472,11095461,10931851,10749992,10598591,10571700,10521440,10493819,10487696,10200251,10190480,9876352,9860993,9794454,9707596,9647645,9626141,9525885,9506752,9373149,9328353,9268375,9267696,9228084,8766942,8702665,8663226,8621513,8552586,8541861,8388883,8126161,8125298,8072545,8037842,8011597,7815417,7797570,7751320,7739708,7737262,7523385,3131741,3127824,3093273,3024154,2549426,2122458,2109828,1944469,1908089,1769666,1594625,1505964,16189514,10585447,15782186 1580401,1580402,1580403,1580404,1580405,1580406,1580407,1331525,1601377,1601379,1601375,1601376,1601378 2778 NM_016592,NM_001077490,NR_003259,NM_001077489,NM_000516,NM_080426,NM_001077488,NM_080425,AF107846,AJ009849,AJ224868,AJ251760,AL109840,AL121917,AL132655,AY898804,CH471077,M21139,M21142,U12466,AF064092,AF088184,AF088185,AF105253,AF493897,AF493898,AJ224867,AK026564,AK054862,AK093534,AK122771,CR623718,CX869731,DB037677,M14631,M77026,X04408,X04409,X07036,X56009,CR621928,AK225818,AK315860,AK315874,BC002722,BC008855,BC022875,BC036081,BC066923,BC089157,BC104928,BC108315,BT009905,CA335150,CR590357,CR592583,CR593409,CR593521,CR595856,CR597302,CR600603,CR600905,CR601034,CR601981,CR603550,CR604005,CR604615,CR604694,CR604909,CR605974,CR606529,CR608368,CR609100,CR609306,CR609386,CR610196,CR611023,CR611320,CR611596,CR612941,CR615348,CR618575,CR619300,CR619319,CR620225 NP_057676,NP_001070958,NP_001070957,NP_000507,NP_536351,NP_001070956,NP_536350,AAD11804,CAA08889,CAA12165,CAB83214,CAB83215,CAI42914,CAI42915,CAI42916,CAI42917,CAI42932,CAI42933,CAI42934,CAI42935,CAI42936,CAI42546,CAI42547,CAI42548,CAI42549,CAI42550,CAI42566,CAI42567,CAI42569,CAI42570,CAI42571,CAI43073,CAI43074,CAI43076,CAI43077,CAI43078,AAX51890,EAW75457,EAW75458,EAW75459,EAW75460,EAW75461,EAW75462,EAW75463,EAW75464,EAW75465,EAW75466,EAW75467,EAW75468,EAW75469,EAW75470,EAW75471,AAA53146,AAA53147,AAA53148,AAA53149,AAB60334,AAC16860,AAC34896,AAC34897,AAF63226,AAM12611,AAM12612,CAA12164,AAA52583,CAA27996,CAA27997,CAA30084,CAA39484,O60726,O75632,O75633,O95467,P63092,P84996,Q14433,Q14455,Q32P26,Q49AL8,Q5FWY2,Q5JW64,Q5JWC3,Q5JWC4,Q5JWC5,Q5JWC6,Q5JWC7,Q5JWC8,Q5JWC9,Q5JWD0,Q5JWD1,Q5JWD6,Q5JWD7,Q5JWD8,Q5JWD9,Q5JWE0,Q5JWE1,Q5JWE2,Q5JWE3,Q5JWE4,Q5JWE5,Q5JWE6,Q5JWE8,Q5JWE9,Q5JWF2,BAF98751,BAF98765,AAH02722,AAH08855,AAH22875,AAH66923,AAH89157,AAI04929,AAI08316,AAP88907 Hs.125898,Hs.694849 GDB:120628 AHO|C20orf45|GNAS1|GPSA|GSA|GSP|MGC33735|PHP1A|PHP1B|POH|dJ309F20.1.1|dJ806M20.3.3 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H protein-coding 1312271 GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. Alternative splicing of this gene results in two transcript variants. 1599006,1580863 10878019,10583385,8917514,8307584,2902634,2748346,2534964,1898771,1614872,1302014,8673138,16641997,15489334,12477932,12119397,11032890 1599006 2779 NM_000172,NM_144499,AC000063,AC002077,CH471055,X63749,AF493908,BC095505,X15088 NP_000163,NP_653082,AAB54048,EAW65047,EAW65048,CAB37839,AAM12622,AAH95505,CAA33196,P11488 Hs.517978 GDB:119277 GBT1|GNATR protein-coding 1319893 GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. 1580863,1599034 2534964,1936270,15557429,15489334,15094710,12477932,12205108,12077706,9008644,8406495,8112713,3118369,2902634,1905716,1713215,1655754,1302014 1599034 2780 NM_005272,AL355310,CH471122,D10384,S70567,U66698,Z18859,AF493909,BC000233,BT009844 EAW56394,NP_005263,CAI19304,EAW56395,BAA01211,AAD14063,CAA79310,AAM12623,AAH00233,AAP88846,P19087,Q16162,Q5T697,ABM83786,ABM87108 Hs.36973 GDB:119278 ACHM4|GNATC protein-coding 1604949 GNAT3 guanine nucleotide binding protein, alpha transducing 3 17021831,16728727,12690205 346562 NM_001102386,AC004862,AC073182,AC092108,CH236949,CH471091 NP_001095856,EAL24192,EAL24193,EAW77007 Hs.335049 GDCA protein-coding 733341 GNAZ guanine nucleotide binding protein (G protein), alpha z polypeptide The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. 1300048,1580863,1302584 2117645,2456569,3129724,15489334,15461802,15326221,12477932,12414994,11950062,10906137,10593970,10092682,9748279,9647645,9603210,9166747,8986788,8975005,8774883,8475115,8429024,7559455,2902634,2153964,2115889,1908722,1902575,1302014,16189514 1302584 2781 NM_002073,AC000029,CH471095,D90150,AF493899,AK126747,BC026342,BC037333,BC078163,BC096828,CR456495,CR597272,CR607632,CR624484,J03260 NP_002064,EAW59559,BAA14180,AAM12613,BAC86669,AAH26342,AAH37333,AAH78163,AAH96828,CAG30381,AAA52580,P19086,Q6ZTC3,Q8IY73,Q8N652,CAK54523,CAK54822,ABM83312,ABW03313 Hs.584760 GDB:120003 protein-coding 732785 GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene uses alternative polyadenylation signals. 1300048 18045877,17548351,17492941,17356515,17167406,17110384,16371464,16368546,16221676,16099817,15953418,15889144,15489334,15331550,15105422,14702039,14512443,12887923,12743112,12527722,12512701,12486123,12486122,12477932,12359736,11698416,11294873,10819326,10744734,10644457,3095147,8717044,12626323,7649993,9108307,9009193,8619474,8552196,8521505,8308009,7972043,7829508,7665596,1979057,16884933,16189514,15782186,10570481,10518015,9238069,9110174 2782 NM_002074,AL031282,AL109917,CH471183,AF070597,AF070603,AF501882,AK096614,AK122949,BC004186,BC005888,BC008991,BC114618,BT007305,CR456784,CR591784,CR592893,CR595196,CR606385,CR613667,CR619305,CR621569,CR623427,M36430,X04526 NP_002065,CAI20029,CAI20051,CAI95651,CAI95652,CAI95653,CAI95654,EAW56147,EAW56148,EAW56149,EAW56150,AAC28652,AAC28655,AAM15918,AAH04186,AAH05888,AAH08991,AAI14619,AAP35969,CAG33065,AAA63265,CAA28207,P62873,Q1RMY8,Q4VXS9,Q4VXT0,Q4VXT1,Q5QPR5,Q5QPT1,Q71UM6,Q71UM7 Hs.430425,Hs.709208 GDB:119279 guanine nucleotide binding protein, beta 1 protein-coding 1322292 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. 1580863 11350118,11072084,18003636,15489334,15461802,15268862,12477932,11258795,10591208 54584 AB049212,NM_053004,AC000076,AC000089,CH471176,AB051432,AF238328,AF301895,AY007378,BC012060,BF510806,CA425124,CR456496,CR590999,CR604918,CR612767,CR621951,CR623885,CR626303 BAB68408,NP_443730,EAX03020,BAB33315,AAG36826,AAG53933,AAG12162,AAH12060,CAG30382,Q9BYB4,CAK54524,CAK54823 Hs.105642 GDB:10796492 DGCRK3|FKSG1|GY2|KIAA1645|WDR14|WDVCF protein-coding 733685 GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. 1300048 15489334,14702039,12665801,12512701,12486123,12477932,11675383,11591653,10644457,10409705,9921901,9799793,9648884,8308009,7782277,7665596,3114742,3108879,1946378,1602151,16884933,14499622,14743216,14679154,2902634,7649993,12626323,16973746,16498633,15955845,15761153 2783 AC009488,AF053356,CH471091,M16514,AF064853,AF501883,AK056750,AK291592,BC010073,BC012348,BC068003,CR541729,NM_005273,CR591490,CR595270,CR595768,CR596122,CR596263,CR599855,CR600615,CR605173,CR605713,CR606173,CR607124,CR608300,CR610423,CR614935,CR617794,CR617841,CR618808,CR619507,CR619728,CR621645,CR621759,CR621794,CR622435,CR622608,CR623391,CR624304,CR624493,CR625150,M16538,M36429 NP_005264,AAC78794,EAW76499,EAW76500,EAW76501,AAA03179,AAM15919,BAF84281,AAH10073,AAH12348,AAH68003,CAG46530,AAA35922,AAA63264,P62879,Q6FHM2 Hs.185172 GDB:120004 protein-coding 733289 GNB2L1 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 68785 12809483,11256614,18088317,18057008,17965024,17936896,17900862,17875659,17875644,17574549,17515463,17409124,17361105,17269730,17201176,17166942,17072338,16997272,16920332,16849317,16757810,16705158,16702786,16689683,16382134,16381901,16236267,16212959,16189514,16169070,16061178,15952740,15611085,15596539,15592455,15548575,15489336,15489334,15467455,15254245,15252133,15202772,15159402,14966116,14963031,14724252,14702039,14699138,14654845,14559993,12960323,12958311,12884273,12761493,12524444,12477932,12435334,12400005,12391233,12388589,12359736,11964397,11956211,11943848,11934885,11884618,11824616,11733189,11709417,11516626,11350068,11301323,11279199,11278757,11076863,11046044,10820259,10490850,10480917,10329691,9876970,9765275,9584165,9442085,9373149,8302854,8290562,8125298,7782277,2499885,1602151,1326322,11312657,12692135,11801604,10708423,12193273 68785 10399 AC008443,CH471165,AK095666,AK222488,AY336089,BC000214,BC000366,BC010119,NM_006098,CR623659,CR624382,CR625098,CR625157,M24194,CR623655,BC014256,BC014582,BC014788,BC017287,BC019093,BC019362,BC021993,BC029996,BC032006,BC035460,CR456978,CR541909,CR590014,CR593549,CR594004,CR594601,CR594655,CR595309,CR597784,CR597855,CR600581,CR601263,CR602411,CR603958,CR604041,CR604224,CR604544,CR605891,CR607176,CR608645,CR609042,CR609331,CR610245,CR610585,CR610887,CR613365,CR614554,CR614855,CR616147,CR616532,CR616617,CR619321,CR619604,CR621372,CR621495 NP_006089,EAW53692,EAW53693,EAW53694,EAW53695,EAW53696,EAW53697,EAW53698,EAW53699,EAW53700,EAW53701,EAW53702,BAD96208,AAR24619,AAH00214,AAH00366,AAA59626,P63244,Q53HU2,Q5J8M6,Q5VLR4,Q6FH47,CAL38537,ABM82348,ABM85522,AAH10119,AAH14256,AAH14788,AAH17287,AAH19093,AAH19362,AAH21993,AAH32006,CAG33259,CAG46707 Hs.5662 GDB:9956509 Gnb2-rs1|H12.3|HLC-7|PIG21|RACK1 protein-coding 1346162 GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described. 1580408,1580410,1580411,1580409,1358639,1580863 9425898,2107550,12626323,18426866,18413308,18413224,18331431,18325652,18325076,18308786,18248681,18242170,18215653,18192837,18071056,18058092,17978878,17972053,17971028,17958314,17943025,17825147,17726725,17717746,17701674,17621167,17584726,17564628,17559964,17544870,16938762,16908025,16897596,16871746,16867916,16783490,16762621,16736244,16713434,16710319,16707857,16615274,16600156,16569552,16513451,16497648,16493638,16487269,16464220,16450155,16449941,16443564,16424860,16354603,17521439,16314886,16314202,16302021,16284746,16276364,16178055,16141801,16139171,16139102,16133558,16110247,16019105,16015130,16002097,15996174,15978856,15961981,15920455,15855877,15831363,15824464,15761153,15678704,15614196,15536455,17460549,17361120,17341998,17330058,17299381,17299380,17278960,17189961,17161225,17136758,17066254,17066084,17044851,17044850,17036337,16961612,15531240,15489334,15389246,15369653,15337465,15332573,15287194,15226674,15212839,15200440,15179018,15138483,15090636,15076154,15057736,15055253,15042113,15037876,15033462,15019160,14744475,14742836,14692527,14647404,14604448,14586390,14557282,14512207,13679998,12947562,12930636,12893983,12891286,12844135,12825146,12818251,12756405,12730030,12724620,12697327,12668921,12658019,12654703,12650956,12634518,12624609,12624279,12618278,12595577,12576843,12566975,12512701,12511541,12486123,12477932,12476328,12460053,12454992,12446192,12431187,12424427,12409514,12384823,12270649,12172218,12165748,12154107,12149126,12113397,12109775,12082592,12075862,12052841,12011775,12000471,11992559,11985260,11978662,11930987,11927836,11910300,11816511,11775125,11768721,11748488,11688759,11586049,11520049,11447495,11439289,11434508,11322658,11283377,11244012,11230982,11230366,11116112,10904009,10644457,10513993,9074930,8723724,8636150,8550614,7822269,1979057,16884933 1580408,1580410,1580411,1580409,1358639 2784 BT009800,M31328,U47930,U47931,A93384,AF519545,AY631872,CH471116,U47924,Y12050,Y12058,Y14140,AB209283,AF501884,BC000115,BC002454,BC015920,NM_002075 AAH15920,AAP88802,AAA52582,AAC50468,P16520,Q59G26,Q8IWZ9,Q96B71,ABM82885,ABM86075,NP_002066,CAB69546,AAN77120,AAT38116,EAW88730,AAB51313,CAA72779,BAD92520,AAM15920,AAH00115,AAH02454 Hs.631657 GDB:120005 protein-coding 1348614 GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. 1580863 12626323,15489334,14702039,12782285,12512701,12486123,12477932,12454992,11842130,11294873,10644457,10570481,10409705,8888689,16884933 59345 NM_021629,AC007620,CH471052,AF300648,AK001890,AK022599,AK091332,AK290571,BC000873,CR591019,CR603437 NP_067642,EAW78403,EAW78404,AAG18442,BAF83260,AAH00873,Q9HAV0 Hs.173030 protein-coding 731985 GNB5 guanine nucleotide binding protein (G protein), beta 5 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. 1580863 9606987,11256614,18094259,16867977,16381901,16169070,15489336,15489334,15474482,14702039,12477932,12119397,11675383,11230166,11076863,10644457,10521509,10339615,10051672,9789084,9315921,8910430,8636150,16189514 10681 NM_006578,AC010674,AC023906,CH471082,AF017656,AF300650,AF501885,AK094776,AK125702,AK290330,AL117471,AW967075,BC011671,BC013997,CR622646,CR624892,NM_016194 NP_057278,NP_006569,EAW77436,EAW77437,EAW77438,EAW77439,EAW77440,EAW77441,EAW77442,EAW77443,EAW77444,AAC63826,AAG18444,AAM15921,BAF83019,CAB55946,AAH11671,AAH13997,O14775,Q96F32,Q9UFT3,CAL37903 Hs.155090 GDB:9958136 FLJ37457|FLJ43714|GB5 guanine nucleotide binding protein beta 5 protein-coding 732554 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase The bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase/N-acetylmannosamine kinase) regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. UDP-GlcNAc 2-epimerase activity is rate-limiting for the biosynthesis of sialic acid and is required for sialylation in hematopoietic cells. The activity of the enzyme can be controlled at the transcriptional level and can affect the sialylation and function of specific cell surface molecules expressed on B cells and myeloid cells. Modification of cell surface molecules with sialic acid is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free NeuAc. 68786,704404,1580863,1300048 9305888,10330343,10334995,18373408,17718674,17704511,17698786,17597614,17164266,16847058,16810679,15987957,15833430,15748884,15670773,15489334,15164053,15146476,15136692,14972325,14707127,12927803,12921793,12913203,12811782,12743242,12612874,12497639,12477932,12473780,12473769,12473753,12409274,12325084,12177386,11916006,11749051,11528398,11326336,10431835,10356312,9305887,8889548,8789455,8439453,2808337,2443758 68786 10020 NM_005476,AF317635,AL158830,CH471071,AF051852,AF155663,AJ238764,AL701451,AM697708,AM697709,AY531126,AY531127,AY531128,BC121179,BM996750,BM999446,BQ217959,CA503236,CR621697,EU093084 NP_005467,AAG31661,CAD13389,EAW58307,EAW58308,EAW58309,AAD32251,AAD38197,CAB42607,CAM91424,CAM91425,AAS59257,AAS59258,AAS59259,AAI21180,ABU55403,Q6QNY5,Q6QNY6,Q6QNY7,Q9Y223 Hs.5920 GDB:9954891 DMRV|GLCNE|IBM2|NM|Uae1 udp-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase protein-coding 1606839 GNG10 guanine nucleotide binding protein (G protein), gamma 10 7665596,12626323,15489334,15164053,12477932,16189514 2790 NM_001017998,AL135787,CH471105,AF493877,BC010384,BC015206,BC016319,BC072671,BC107574,BG708408,CR599029,CR608208,CR617193,U31383 NP_001017998,CAC22155,EAW59079,EAW59080,EAW59083,EAW59087,AAM12591,AAH10384,AAH16319,AAH72671,AAI07575,AAC50205,P50151,Q96BN9,Q9H1X3,ABM82436 Hs.534196,Hs.656890 GDB:678416 protein-coding 735931 GNG11 guanine nucleotide binding protein (G protein), gamma 11 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. 1302231,1300048 7665596,12626323,17092487,16189514,15914563,15761153,15489334,12853948,12690205,12486123,12477932,10644457,9847074 1302231 2791 NM_004126,AC002076,CH236949,CH471091,AF493878,BC009709,BG255463,BT007141,CR590486,CR592688,CR596301,CR603702,CR622777,U31384 NP_004117,AAS02020,EAL24138,EAW76804,AAM12592,AAH09709,AAP35805,AAC50206,P61952,Q53Y01,ABM82353,ABM85528 Hs.83381 GDB:678418 GNGT11 guanine nucleotide binding protein gamma subunit 11 protein-coding 1319444 GNG12 guanine nucleotide binding protein (G protein), gamma 12 1580863 12477932,11714923,10931946,10409705,9373149,9003074,8125298,7493986,14743216,12626323,10819326,17081983,15489334,15342556,15078334,14702039,12486123 55970 NM_018841,AF188181,AL136120,AL391703,AL499611,CH471059,AF119663,AF123766,AF365871,AF493879,AK055914,AK092014,AK223000,AK293101,AL049367,AL832431,BC005940,BC013090,BP236225,BU620098,CR593144,CR605876 NP_061329,AAF04571,CAI23496,EAX06484,EAX06485,EAX06486,AAF17220,AAP97245,AAK53385,AAM12593,BAD96720,BAF85790,CAH10645,AAH05940,Q53GD1,Q69YP5,Q9UBI6 Hs.431101,Hs.706861 GDB:11511178 FLJ31352|FLJ34695 protein-coding 1318585 GNG13 guanine nucleotide binding protein (G protein), gamma 13 1580863 12626323,16473877,16344560,15616553,15489334,15078334,12486123,12477932,12454992,11675383,11157797,10570481,8889548 51764 NM_016541,AE006465,AL031033,CH471112,AB030207,AF493880,AY029486,BC093760,BC095525,BM931126,DA111448 NP_057625,AAK61257,CAB53059,EAW85702,EAW85703,BAA92768,AAM12594,AAK40269,AAH93760,AAH95525,Q9P2W3 Hs.247888 GDB:11506079 G(gamma)13|h2-35 protein-coding 736477 GNG2 guanine nucleotide binding protein (G protein), gamma 2 Heterotrimeric G proteins play vital roles in cellular responses to external signals. The specificity of a G protein-receptor interaction is primarily mediated by the gamma subunit.[supplied by OMIM] 1580863 12626323,18045877,17492941,16344560,16099817,15761153,15747776,15489334,15105422,14702039,14512443,12853961,12527722,12486123,12477932,11698416,11483580,11294873,10833460,10744734,10518015,9286705,9238069,9063897,9009193,8636150,7972043,7782277,15889144,15782186 54331 NM_053064,AL358333,CH471078,AB074180,AF130106,AF493870,AK001024,AK026424,AK026425,AK092371,AL832878,BC020774,BC041446,BC060856,BQ025819,CR620222,CR621932,DA322879 NP_444292,EAW65663,EAW65664,EAW65665,AAG35531,AAM12584,CAI46198,AAH20774,AAH60856,P59768,Q5JPE2,Q9H373 Hs.187772 GDB:10796792 guanine nucleotide binding protein, gamma 2 protein-coding 1350428 GNG3 guanine nucleotide binding protein (G protein), gamma 3 G proteins are heterotrimers of alpha, beta, and gamma subunits. Gamma subunits, such as GNG3, contribute to the specificity of the hundreds of receptor signaling pathways involving G proteins (Schwindinger et al., 2004 [PubMed 15314181]).[supplied by OMIM] 10075696,12626323,15489334,15314181,15078334,12486123,12477932,11294873,10819326,10644457,9003074,8636150,8550614,7822269 2785 NM_012202,AF188177,AP001458,CH471076,AF075042,AF087900,AF092129,AF493871,BC015563,CR620191,CR625883 NP_036334,AAF04567,EAW74082,AAP97199,AAD40371,AAM12585,AAH15563,P63215,ABM82816,ABM86002 Hs.179915 GDB:392655 protein-coding 1353997 GNG4 guanine nucleotide binding protein (G protein), gamma 4 1302231,1580863 12626323,15824735,7665596,16344560,15489334,14702039,12486123,12477932,10644457,8636150,7782277,16884933 1302231 2786 NM_001098721,NM_001098722,AL390765,AL583844,AL672238,CH471098,AF493872,AK074383,AL832564,BC022485,CR592582,CR593666,CR607248,CX784976,DA122711,DA230013,DB501745,U31382,NM_004485 NP_004476,NP_001092191,NP_001092192,EAW70030,EAW70031,AAM12586,AAH22485,AAC50204,P50150,Q5VSS8 Hs.159711 GDB:678414 DKFZp547K1018|FLJ23803|FLJ34187 protein-coding 737441 GNG5 guanine nucleotide binding protein (G protein), gamma 5 1300048 12626323,9790912,16710414,16341674,15489334,12665801,12486123,12477932,11042152,9653160,8636150,7606925,1549114 2787 AF085709,AL359762,CH471097,AF038955,AF493873,NM_005274,AK312111,BC003563,BM809260,BM834854,BT006823 AAC72203,CAH70203,EAW73236,AAC39869,AAM12587,NP_005265,BAG35047,AAH03563,AAP35469,P63218 Hs.645427 GDB:392657 FLJ92393 protein-coding 1346549 GNG5P guanine nucleotide binding protein (G protein), gamma 5 pseudogene 728411 1549114 728411 2789 NG_006561,AL121956 GDB:132394 pseudo 1626539 GNG5P2 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2 10819326,15772651 347687 NG_002699,AF188178,AL031319 AAF04568,Q9Y3K8 GNG5ps|dJ364I1.1 pseudo 1626592 GNG5P3 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3 100101932 NG_006562,AP001781 pseudo 1626591 GNG5P4 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4 100101933 NG_006563,AC074008 pseudo 1626590 GNG5P5 guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5 100101935 NG_006564,AL354814 pseudo 1348974 GNG7 guanine nucleotide binding protein (G protein), gamma 7 1580863 12626323,9600093,18219292,16344560,15489334,15057824,14702039,12477932,11181995,16189514,8636150,8308009 2788 NM_052847,AC005512,AC005756,AC006538,AC092068,AC104432,AC104537,CH471139,AB010414,AF493874,AK024465,AK123863,BC010463,BC014466,BC037318,BC053630,DA106844,DA247608 NP_443079,AAC32595,EAW69374,BAA28348,AAM12588,BAB15755,AAH10463,AAH14466,AAH53630,O60262 Hs.515544 GDB:392656 FLJ00058 protein-coding 735730 GNG8 guanine nucleotide binding protein (G protein), gamma 8 1580863 10819326,12626323,15489334,12486123,12477932 94235 NM_033258,AC093503,AF188179,CH471126,AF493875,BC095514 NP_150283,AAF04569,EAW57434,AAM12589,AAH95514,Q9UK08 Hs.283961 GDB:11511180 g-protein gamma 8 subunit protein-coding 1351801 GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM] 8661128,17548351,17110384,15901556,15489334,15368366,12853948,12690205,12486123,12477932,10636894,10585447,10360181,8636150,8500562,7665596,6438626,1706334 2792 NM_021955,AC002076,CH236949,CH471091,S62026,U41492,U41493,AF493869,BC029367,CR456912,S62027 NP_068774,AAS02021,EAL24139,EAW76805,EAW76806,AAD13931,AAB92386,AAB92387,AAM12583,AAH29367,CAG33193,AAB26896,P63211,Q6LCP6,Q8NEJ6,ABM83486,ABM86701 Hs.702084 GDB:118804 GNG1 protein-coding 1343902 GNGT2 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. There is evidence for use of multiple polyadenylation sites by this gene. 1580863 9286705,16973746,15489334,12743112,12486123,12477932,11714923,9108307,8943291 2793 AF365870,AF493876,BC008663,NM_031498,AC069454,AF001158,AF001159,AF001160,CH471109 EAW94688,EAW94689,AAK53384,AAM12590,AAH08663,O14610,NP_113686,AAB70039 Hs.181781 GDB:118805 G-GAMMA-8|G-GAMMA-C|GNG8|GNG9|GNGT8 protein-coding 1352530 GNL1 guanine nucleotide binding protein-like 1 The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. 1580863 16702430,12477932,8889548,8180467,17525332 2794 NM_005275,AB103601,AB202092,AL662800,AL662825,BA000025,BX000357,BX248518,BX927220,CH471081,CR388372,CR936927,AK026391,BC006343,BC013959,BC018366,BC063657,BM833876,BT006648,BU687484,CR592198,CR611263,CR625080,L25665 NP_005266,BAF31262,BAE78611,CAI18152,CAI17831,BAB63327,CAI18558,CAM26012,CAQ09053,EAX03294,EAX03295,CAQ07868,CAQ08501,AAH13959,AAH18366,AAH63657,AAP35294,AAA66492,P36915,Q0EFC6,Q6P458,Q86Z07,Q96QB8,ABM81689,ABM84852,ABM87095 Hs.83147 GDB:606239 HSR1 protein-coding 1343978 GNL2 guanine nucleotide binding protein-like 2 (nucleolar) 1580863 8822211,17353931,17081983,15635413,15489334,12477932,12429849,11790298 29889 NM_013285,AL034379,AL513220,CH471059,AK130697,BC000107,BC009250,L05425 NP_037417,CAI20546,CAI15784,EAX07333,AAH00107,AAH09250,AAC37588,Q13823,Q5TGG8,ABM83109,ABW03493 Hs.75528 FLJ40906|HUMAUANTIG|NGP1|Ngp-1|dJ423B22.6 protein-coding 1606313 GNL3 guanine nucleotide binding protein-like 3 (nucleolar) 17494866,17310849,17000763,17000083,16670719,16282439,16097049,16012751,15857956,15657390,15595646,15489334,15112336,14702039,14648588,12477932,12464630,12429849,11790298,11085516,16189514 26354 NM_206825,NM_014366,NM_206826,AC104446,CH471055,AF191018,AI028402,AK027514,AK027516,AY825265,BC001024,BF732788,CF272475,CR598596,CR607914,CR608648 NP_996561,NP_055181,NP_996562,EAW65249,EAW65250,EAW65251,EAW65252,AAF09482,BAB55168,BAB55169,AAV74413,AAH01024,Q5PU80,Q9BVP2 Hs.313544 C77032|E2IG3|MGC800|NS protein-coding 1346519 GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like 737633,1580863 17034816,16251348,16189514,14702039,12477932 737633 54552 NM_019067,AL391139,CH471154,AK001475,AK022325,AK128277,BC003603,BC011720,BC022829 NP_061940,CAI40396,EAW93182,EAW93183,EAW93184,EAW93185,BAA91712,BAC87364,AAH03603,AAH11720,Q05DU1,Q6ZRE6,Q9NVN8 Hs.654677 FLJ10613|RP11-353K22.1 protein-coding 1342846 GNLY granulysin The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 10644038,10449094,9194222,9058801,8423048,2434598,2209093,11418670,9756476,2212946,18192122,17596262,17038537,16980658,16344560,15843520,15778384,15489334,15223905,12884856,12626573,12488100,12483306,12477932,12421959,12145461 10578 NM_006433,A00142,A07389,AC012454,CH471053,NM_012483,M85276,AA883466,BC023576,BC063245,CR541859,DA932688,X05044,X54101 NP_036615,NP_006424,CAA00015,CAA00661,EAW99483,EAW99484,EAW99485,EAW99486,AAA59935,AAH23576,CAG46657,CAA28715,CAA38035,P22749,ABM83193,ABM86394 Hs.105806 GDB:127452 519|D2S69E|LAG-2|LAG2|NKG5|TLA519 protein-coding 732912 GNMT glycine N-methyltransferase Glycine N-methyltransferase (GNMT; EC 2.1.1.20) catalyzes the synthesis of N-methylglycine (sarcosine) from glycine using S-adenosylmethionine (AdoMet) as the methyl donor. The enzyme was first described by Blumenstein and Williams (1960) in guinea pig liver. GNMT acts as an enzyme to regulate the ratio of S-adenosylmethionine to S-adenosylhomocysteine (AdoHcy) and participates in the detoxification pathway in liver cells.[supplied by OMIM] 1300048,1580863 10843803,17660255,17332283,16317120,16189514,15489334,14739680,14651980,12697024,12566309,12477932,11810299,11596649,9495250,9261130,6157075,2722853 27232 NM_018960,AF101475,AL158815,CH471081,AF101477,BC032627,X62250 NP_061833,AAF78289,CAI19462,EAX04123,EAX04124,AAF78290,AAH32627,CAA44164,Q14749,Q5T8W2,ABM81745,ABM84900 Hs.144914 GDB:10795896 protein-coding 733936 GNPAT glyceronephosphate O-acyltransferase This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. 704404,1580863 9459311,9536089,16997000,16710414,15687349,15489334,14702039,12477932,11237722,11152660,10456321,10215861,9373149,9110174,8619474,8186247,8125298,6528320,2804060 8443 NM_014236,AF218233,AL117352,AL137801,CH471098,AB209882,AF035285,AF043937,AJ002190,AK222773,AK223304,BC000450,BE222957 NP_055051,AAG17547,CAI21987,CAI21988,CAI21989,EAW69953,BAD93119,AAB88177,AAC24505,CAA05242,BAD96493,BAD97024,AAH00450,O15228,Q53FI2,Q53H08,Q59EC9,Q5TBH8,Q71V38 Hs.498028 GDB:9859439 DAP-AT|DAPAT|DHAPAT acyl-coa:dihydroxyacetonephosphate acyltransferase protein-coding 2291823 GNPATP glyceronephosphate O-acyltransferase pseudogene 100144283 NG_007472,AC018555 pseudo 1349274 GNPDA1 glucosamine-6-phosphate deaminase 1 1580863 9438414,9714720,16344560,16189514,15489334,15372022,14702039,12965206,12616532,12477932,10964516,8747459,7584044,7577655 10007 NM_005471,AC005740,AF035809,CH471062,AF029914,AF048826,AJ002231,AK022779,AK290686,BC001717,BC012853,BC020769,BC022322,BC024664,CA432951,CR597584,CR609510,CR619056,D31766,DA661926 NP_005462,AAC62119,AAB88748,EAW61890,EAW61891,EAW61892,EAW61893,AAB84217,AAC05123,CAA05259,BAF83375,AAH01717,AAH12853,AAH20769,AAH22322,BAA06544,P46926,Q9BV16 Hs.633853 GNPDA|GNPI|GPI|HLN|KIAA0060 protein-coding 1313596 GNPDA2 glucosamine-6-phosphate deaminase 2 1580863 14702039,12965206,12477932 132789 NM_138335,AC096586,CH471069,AB209904,AF247786,AK055639,AK129655,AL834506,AY173948,BC015532 NP_612208,EAW93019,EAW93020,BAD93141,AAL95691,BAB70977,CAD39163,AAO49718,AAH15532,Q2VYF1,Q59EA7,Q8NCZ8,Q8TDQ7,Q96BJ4,Q96NC6 Hs.21398 SB52 protein-coding 1351197 GNPNAT1 glucosamine-phosphate N-acetyltransferase 1 1625539,1580863 15489334,14702039,12477932,9972309 1625539 64841 NM_198066,AL139317,CH471061,AK001469,AK025575,AK090577,BC012179,BG717628,BQ182796,CA489597,CR617215,CR620026,CR622641 NP_932332,EAW80614,EAW80615,EAW80616,EAW80617,BAC03482,AAH12179,Q96EK6 Hs.702056 FLJ10607|GNPNAT|Gpnat1 protein-coding 1346016 GNPTA glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase (mucolipidoses II and III) 2795 GDB:119280 1603959 GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase; EC 2.7.8.15) catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex. Also see GNPTG (MIM 607838).[supplied by OMIM] 16094673,15489334,14702039,12477932,12168954,10574462,18190596,16835905,16630736,16465621,16299590,16200072,16120602,16116615 79158 NM_024312,AC063950,CH471054,AB033034,AI418963,AI479646,AK001821,AK056137,AL359588,AL832172,AM085438,AY687932,BC002779,BC042615,BC071687,BC094884,BC131787,CR749871 NP_077288,EAW97682,EAW97683,EAW97684,BAA86522,BAA91926,BAB71102,CAB94874,CAJ30014,AAV98624,AAH02779,AAH42615,AAH71687,AAH94884,AAI31788,CAH18711,Q3T906,Q68CM9,Q9BUA5,Q9NPW9,Q9NV34 Hs.46850 DKFZp762B226|GNPTA|ICD|KIAA1208|MGC4170 protein-coding 1353704 GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. GlcNAc-phosphotransferase is an alpha-2/beta-2/gamma-2 hexameric complex, the enzyme product of 2 genes, 1 encoded by a gene on chromosome 16 (GNPTG) and the other by a gene on chromosome 12 (GNPTAB; MIM 607840).[supplied by OMIM] 737633,1599045,1580863 15231747,15616553,15498874,15489334,12477932,12107412,11157797,10712439,3019310 737633,1599045 84572 AE006467,AL031709,CH471112,AA513392,AF302786,AK126110,AY203933,NM_032520,BC014592,BC131525,BU145878,BX398427,CD671181,CR597542,CR606005,CR612240,CR618970 NP_115909,AAK61277,CAB56184,EAW85666,EAW85667,EAW85668,AAG27706,AAP34456,AAH14592,AAI31526,Q96RZ2,Q9UJJ9,ABM81753,ABM84907 Hs.241575 GNPTAG|LP2537|RJD9 n-acetylglucosamine-1-phosphotransferase, gamma subunit protein-coding 69083 GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 704404,1580863,2292541 10832105,1310542,2867548,8692981,17692113,17680884,17605472,17557168,17456575,17220347,17202595,16359986,16157590,16061872,15809743,15578334,15562029,15546906,15490304,15229199,15138251,15062568,15001648,14726258,14594454,14565958,12969578,12788881,12770744,12633791,12477932,12447356,12054733,12040003,11875100,11278902,10391209,9484912,9414473,9202214,8889548,15489334,15283968,8784072,8529206,8145771,6760865,6090951,3511544,2863757,2671939,1767338,1682898 2292541 2796 NM_000825,NM_001083111,AC091185,CH471080,X15215,AL047164,BC067290,BC126437,BC126463,CB243067,M12578,X01059 NP_000816,NP_001076580,EAW63591,EAW63592,CAA33285,AAI26438,AAI26464,AAA35916,CAA25526,P01148 Hs.82963 GDB:133746 GNRH|GRH|LHRH|LNRH gonadotropin-releasing hormone 1 protein-coding 1347634 GNRH2 gonadotropin-releasing hormone 2 The protein encoded by this gene is a preproprotein that is cleaved to form a secreted 10 aa peptide hormone. The secreted decapeptide regulates reproduction in females by stimulating the secretion of both luteinizing- and follicle-stimulating hormones. Three transcript variants that encode unique proproteins but the same peptide hormone have been found for this gene. 1580863 11459794,1727812,9419371,17451432,17296196,17202595,15578334,15562029,15489334,15001648,14726258,12969578,12770744,12663744,12477932,12447356,11931351,11889221,11861490,11780052 2797 NM_001501,NM_178331,NM_178332,AF036329,AL121905,CH471133,AF036330,AF190640,BC069362,BC115399,BC115400,BF062277 NP_001492,NP_847901,NP_847902,AAC02980,CAC10338,CAC29100,CAC29101,EAX10557,EAX10558,EAX10559,AAC02981,AAG17539,AAH69362,AAI15400,AAI15401,O43555,Q14C69,Q9HBX7 Hs.129715 GDB:9798389 GnRH-II|LH-RHII protein-coding 737339 GNRHR gonadotropin-releasing hormone receptor This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. 1580863,704404 8386108,10686191,9259321,17710733,17452338,17179725,17170088,16968799,16613990,16364974,16359986,16301116,16213849,15886197,15761034,15563546,15546906,15529183,15489334,15149726,15105440,14726258,14565958,12679486,12568864,12477932,12446597,12161512,12089350,14551223,12947046,12843188,12788881,10999776,10523035,10366411,10084584,10022417,9425890,9414473,9371856,9272108,8472841,7958384,7768323,7613048,7534732,1333190,12062898,12054603,12050282,12040003,11997175,11994356,11981042,11397871,11397842,11318785,11278883 2798 NM_000406,NM_001012763,AC079880,AF001952,CH471057,CS052866,U19602,U19603,AY392011,BC113546,L03380,L07949,S60587,S77472,Z81148 NP_000397,NP_001012781,AAB71348,EAX05557,EAX05558,CAI72249,AAA63884,AAA63885,AAR92228,AAI13547,AAA35918,AAA35917,AAB26287,AAB33884,CAB03541,P30968 Hs.407587 GDB:136456 GNRHR1|GRHR|LHRHR|LRHR protein-coding 1343814 GNRHR2 gonadotropin-releasing hormone (type 2) receptor 2 The receptor for gonadotropin releasing hormone 2 (GnRH2) is encoded by the GnRH2 receptor (GnRHR2) gene. In non-hominoid primates and non-mammalian vertebrates, GnRHR2 encodes a seven-transmembrane G-protein coupled receptor. However, in human, the N-terminus of the predicted protein contains a frameshift and premature stop codon. In human, GnRHR2 transcription occurs but whether the gene produces a functional C-terminal multi-transmembrane protein is currently unresolved. Alternative splice variants have been reported. An untranscribed pseudogene of GnRHR2 is also on chromosome 14. 1580863 17296196,16406723,16189182,15761034,12538601,12444048,11861490,11352653,10396028,11707068 114814 NR_002328,AF403014,AL160282,AB239331,AY077708,AY081843,AY233132,DQ266410,AY233133 AAL27000,BAF35581,AAL89821,ABB82942,Q2MZ38,Q6XGY1,Q96P88,AAP74658 Hs.356873,Hs.654719 GDB:11502255 GnRH-II-R pseudo 1314172 GNS glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. 1599248,1580863 3689315,17998446,16990043,16344560,15489334,14702039,12754519,12624138,12573255,12477932,9373149,8125298,3391615,3196333,1755850,1463457 1599248 2799 AC025262,CH471054,AA725727,AK054660,AK223484,AK291771,BC012482,BC017742,NM_002076,BC038967,BX486076,BX537363,CA447080,CR596768,CR612218,CR612741,DA333542,DA437901,Z12173 NP_002067,EAW97138,EAW97139,EAW97140,BAD97204,BAF84460,AAH12482,CAD97608,CAA78164,P15586,Q7Z3X3 Hs.334534 GDB:120006 G6S|MGC21274 protein-coding 1322690 GOLGA1 golgi autoantigen, golgin subfamily a, 1 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. 1580863 9324025,17276477,16262725,15654769,15269279,14702039,12972563,12477932,10209123 2800 NM_002077,AL050012,AL354928,AL451125,CH471090,AB208858,AK021820,AW237629,BC032853,BG699932,U51587 NP_002068,CAI39632,CAI39642,CAI14345,CAI14346,EAW87605,EAW87606,BAD92095,AAH32853,AAB81549,Q59HA1,Q5T162,Q5T164,Q5T165,Q92805,ABM83387 Hs.133469 GDB:9429466 MGC33154|golgin-97 protein-coding 1347402 GOLGA2 golgi autoantigen, golgin subfamily a, 2 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. 1580863 15194699,15229288,18167358,16964243,16489344,16189514,16097034,15796781,15489334,15164053,15037601,12665801,12477932,12111718,11855815,11781572,11739402,11739401,11718716,11703931,11696556,11591729,11306556,11285137,11035033,10769027,10744704,10560974,10487747,10209123,9753325,9628863,9478999,9346242,9150144,8557739,8315394,12788069,14623284,12270925 2801 NM_004486,AL590708,CH471090,CQ834570,AF248953,AW583140,AY823636,BC006381,BC014188,BC069268,BQ181201,BT007248,BX647920,L06147 NP_004477,CAI13841,CAI13842,EAW87762,EAW87763,EAW87764,EAW87765,CAH05500,AAF65550,AAV76025,AAH14188,AAH69268,AAP35912,CAI46071,AAA35920,Q08379,Q5HYE0,Q5PXD5,Q5SYX5,Q6ZPB4,Q8N2I8 Hs.155827 GDB:9246331 GM130|MGC20672 protein-coding 1604610 GOLGA2L1 golgi autoantigen, golgin subfamily a, 2-like 1 14702039,12477932 55592 NM_017600,AC010203,CH471054,AF217995,AK124885,AK131330,AL137720,BC109389,BC110077,BC127181,BC141930,BX647364 NP_060070,EAW97621,EAW97622,AAG17237,BAD18490,CAB70892,AAI09390,AAI41931,Q32LX7,Q6ZN85,Q9HBQ8 Hs.524660 DKFZp434M0331 protein-coding 1343463 GOLGA2LY1 golgi autoantigen, golgin subfamily a, 2-like, Y-linked 1 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. 12815422 84559 NR_001555,NG_004755,AC012005,AF332229 Hs.531603 GDB:11506083 GOLGA2LY golgi autoantigen, golgin subfamily a, 2-like, y-linked miscrna 1603462 GOLGA2LY2 golgi autoantigen, golgin subfamily a, 2-like, Y-linked 2 There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. 12815422 401634 NR_002195,NG_004755,AC006328,AF332229 AAK13481,Q96RM8 Hs.531603 pseudo 1313187 GOLGA3 golgi autoantigen, golgin subfamily a, 3 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. 1580863 8315394,9295333,17118120,17081983,16870622,16341674,15951434,15829563,15489334,14702039,14522980,12477932,12130652,12036294,10791974,10737800,10209123,8889548 2802 NM_005895,AC127070,AC136467,CH471218,AB027133,AF485338,AK092223,BC037937,BC060826,BC142658,BC146675,BF902971,BM842318,BM981309,BQ898615,D63997,L06148 NP_005886,EAW54817,EAW54818,EAW54819,EAW54820,BAB71953,AAL93149,AAH60826,AAI42659,AAI46676,BAA23661,AAA35921,Q08378 Hs.507333 GDB:9429467 GCP170|MEA-2 protein-coding 1352947 GOLGA4 golgi autoantigen, golgin subfamily a, 4 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins are a family of proteins, of which the protein encoded by this gene is a member, that are localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternative splice variants have been described but their full-length nature has not been determined. 1580863 9013329,8537393,1400343,17081983,15870108,15654769,15302935,15265687,14718928,14718574,14702039,12972563,12477932,11303027,11149944,10231028,10209123,8626529 2803 U41740,X76942,X82834,NM_002078,AC097359,CH471055,AA779873,AB209693,AF273047,AK022389,AY531221,BC023648,BC045543,BC050444,BX640663,U31906 Q5GHI6,Q86W71,Q9H2G3,AAC51791,AAC50434,CAA54261,CAA58041,Q13439,Q49A56,Q59EW8,NP_002069,EAW64494,EAW64495,EAW64496,BAD92930,AAG34907,AAS98194,AAH45543,AAH50444 Hs.344151 GDB:1313729 GCP2|GOLG|MU-RMS-40.18|p230 protein-coding 1349989 GOLGA4P1 GOLGA4 pseudogene 1 338463 1351575 GOLGA4P2 GOLGA4 pseudogene 2 378711 1317779 GOLGA5 golgi autoantigen, golgin subfamily a, 5 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins, whose members localize to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. 1580863,1599259 12538640,9915833,17081983,15718469,15592455,15489334,15144186,15004235,12699642,12656988,12508121,12477932,9443391,2734021 1599259 9950 BX248744,CR608254,NM_005113,AL132987,CH471061,AF085199,AJ132949,AL702150,AW103620,AY644768,BC010134,BC023021 AAH23021,CAD66551,Q2TS49,Q8TBA6,NP_005104,EAW81502,AAD09753,CAB36967,AAV85456 Hs.104320 GDB:9958510 GOLIM5|RFG5|ret-II protein-coding 1606654 GOLGA6 golgi autoantigen, golgin subfamily a, 6 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. 16344560,12915487,12477932,11896453,11509185,11161787,11156619 342096 NM_001038640,AC013486,AF266285,AF263742,AK292574,BC131515,DB039513 NP_001033729,AAF72535,AAF72196,BAF85263,AAI31516,Q9NYA3,AAI56410,AAI57133 Hs.546408,Hs.672474 GDB:11510058 FLJ75859|GLP protein-coding 1354461 GOLGA6B golgi autoantigen, golgin subfamily a, 6B This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. 16572171,12915487,11896453,11509185,11161787,11156619 55889 NM_018652,AC100827,CH471136 NP_061122,EAW99264,EAW99265,EAW99266,EAW99267,EAW99268,EAW99269,A6NDN3 Hs.546408 GOLGA protein-coding 1351077 GOLGA7 golgi autoantigen, golgin subfamily a, 7 737633 16000296,15489334,14522980,12477932,11827452,11752456,11042152 737633 51125 NM_016099,NM_001002296,AC009630,CH471080,AB104615,AF068291,AF125102,AK026613,AL695304,AV650886,BC001227,BC012032,BG939345,BI553491,CR596558,CR606993,CR609818,CR616191,CR617602 NP_057183,NP_001002296,EAW63258,EAW63259,BAC82368,AAF65180,AAD39919,AAH12032,Q7Z5G4 Hs.654773 GCP16|GOLGA3AP1|HSPC041|MGC21096|MGC4876 protein-coding 1604639 GOLGA8A golgi autoantigen, golgin subfamily a, 8A The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. 14702039,12477932,10677249,10660574,10048485 23015 NM_181077,XM_001714558,AC025678,AB020662,AF163441,AF204231,AK123221,AL117569,AL137686,BC032774,BC064341,BC093673,BC104800,BC150329,BC152410,BX648160,BX648575,CR749361 NP_851422,XP_001714610,BAA74878,AAF34136,AAF28463,CAH56400,CAH56372,AAH32774,AAH93673,AAI04801,AAI50330,AAI52411,CAH18214,A7E2F4,Q1A5X9,Q52M46,Q659D1,Q659E6 Hs.182982,Hs.709619 GM88 protein-coding 1602144 GOLGA8B golgi autoantigen, golgin subfamily a, 8B 16572171,15489334,14702039,10677249,10660574 440270 NM_001023567,AC027139,AK097551,AL133593,BX647673,CR594874 NP_001018861,A8MQT2 Hs.182982,Hs.709619 GOLGA5|KIAA0855 protein-coding 1603464 GOLGA8C golgi autoantigen, golgin subfamily a, 8C 12477932 400304 XM_375152,XM_930834,XM_929111,XM_929115,AC131280 XP_375152,XP_935927,XP_934204,XP_934208 protein-coding 1625096 GOLGA8D golgi autoantigen, golgin subfamily a, 8D 12477932 388080 XM_370837,XM_931022,AC116165 XP_370837,XP_936115,Q0D2H9 protein-coding 1605499 GOLGA8E golgi autoantigen, golgin subfamily a, 8E 12477932 390535 NM_001012423,AC100757,AL041315,BC063309,DQ309037 NP_001012423,ABD73921,Q1A5Y0 Hs.454647,Hs.652260 protein-coding 1604677 GOLGA8F golgi autoantigen, golgin subfamily a, 8F 12477932 440244 XM_001720373,AC091304,AL833871 XP_001720425,CAD38728,Q8NDK0 Hs.510812 DKFZp434P162 protein-coding 1606114 GOLGA8G golgi autoantigen, golgin subfamily a, 8G 14702039,12477932 283768 NM_001012420,AC138749,AL137398,BC066774,BC125193,BC125194 NP_001012420,AAI25194,AAI25195,Q08AF8 Hs.169639,Hs.510812,Hs.525714 DKFZp434K052 protein-coding 1351894 GOLGB1 golgin B1, golgi integral membrane protein 1580863 12429822,11927603,11590181,11035033,10931861,10744704,9490716,7802676,7511208,15718469,16169070,7691276,15308636,8198703,17475246,15231748,15004235,14718574,12477932 2804 D25542,X75304,NM_004487,AC119736,AC133750,CH471052,BC065301,BF061034,BM475510 BAA05025,CAA53052,Q14789,NP_004478,EAW79502,EAW79503,EAW79504 Hs.213389 GDB:454958 GCP|GCP372|GIANTIN|GOLIM1 protein-coding 1322138 GOLIM4 golgi integral membrane protein 4 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 a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. 1580863 9201717,17605763,16344560,15331763,15004235,12207053,12191016,11598199 27333 NM_014498,AC069243,AC117467,CH471052,BF130574,BM925724,C18867,DA028346,U55853 NP_055313,EAW78564,EAW78565,EAW78566,AAB58419,O00461 Hs.143600,Hs.647907 GDB:11504415 GIMPC|GOLPH4|GPP130|P138 protein-coding 1322921 GOLM1 golgi membrane protein 1 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 a type II Golgi transmembrane protein. It processes protein synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this encoded protein has been observed to be upregulated in response to viral infection. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 1580863 10831838,17662025,16740002,16335952,16303743,16169070,15489334,14702039,12975309,12754519,12477932,12359426,12191016,12133958,12029628 51280 NM_177937,NM_016548,AF460419,AF460486,AJ426326,AL161447,CH471089,CS051441,CS300831,AB067112,AF236056,AI929234,AJ420432,AK027717,AK074188,AK075542,AK075557,AK092943,AL533767,AY358593,BC001740,BQ216766,CR457201,CR623888 NP_808800,NP_057632,AAM87790,AAM87857,CAD32484,CAH73152,EAW62705,EAW62706,CAI72214,CAK32495,BAC02150,AAF44663,BAB85012,BAC11685,AAQ88956,AAH01740,CAG33482,Q5VZE3,Q8NBJ4,Q8TED8 Hs.696129 GDB:11500427 C9orf155|FLJ22634|FLJ23608|GOLPH2|GP73|PSEC0257|bA379P1.3 protein-coding 1349293 GOLPH3 golgi phosphoprotein 3 (coat-protein) 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 a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. 1580863 16263763,15489334,14702039,12477932,11042173 64083 NM_022130,AC022444,AC025178,AC025181,CH471118,CQ783228,AJ296152,AK057544,AK075077,AK075156,AK092604,AK128510,AL133078,BC012123,BC033725,BC063586,CR598328,CR605605,CR616025,CR624070 NP_071413,EAX10780,EAX10781,EAX10782,CAF86422,CAC13124,BAC11438,CAB61398,AAH12123,AAH33725,AAH63586,Q9H4A6 Hs.408909 GDB:11506085 FLJ90675|GOPP1|GPP34|MIDAS protein-coding 1347625 GOLPH3L golgi phosphoprotein 3-like 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 localized at the Golgi stack and may have a regulatory role in Golgi trafficking. 14702039,12477932,11042173 55204 NM_018178,AL356292,AL356356,CH471121,AJ296153,AK001549,BC013870,BI550986,CR622887 NP_060648,CAI13650,CAI15495,EAW53526,EAW53527,CAC13125,BAA91750,AAH13870,Q9H4A5 Hs.203699 FLJ10687|GPP34R protein-coding 1604347 GOLSYN Golgi-localized protein Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM] 17611281,16750881,16344560,16157705,15656992,15459722,14702039,12477932,12107410,10819331,8889548 55638 NM_001099743,NM_001099746,NM_001099745,NM_001099749,NM_001099748,NM_001099747,NM_001099750,NM_017786,NM_001099752,NM_001099751,NM_001099755,NM_001099754,NM_001099753,NM_001099756,AC079061,CH471060,AB040905,AB195677,AB195678,AB195679,AK000373,AK055246,AK090559,AK091374,AK096558,AK290469,AL713645,AL834406,AY705385,BC012082,BG702715,BU607867,CA395128,CR607313,DA155137,DA530258,DA773983,DA787454,DA803330,NM_001099744,AB195676,DB127917,DB155885,DC350594,DN993094 NP_001093214,NP_001093213,NP_001093216,NP_001093215,NP_001093219,NP_001093218,NP_001093217,NP_001093220,NP_060256,NP_001093222,NP_001093221,NP_001093225,NP_001093224,NP_001093223,NP_001093226,EAW91935,EAW91936,EAW91937,BAA95996,BAD72976,BAD72977,BAD72978,BAD72979,BAA91121,BAF83158,CAD28457,CAD39068,AAU93914,AAH12082,Q96D80,Q9NX95 Hs.390738 FLJ20366|KIAA1472|SYBU protein-coding 1346868 GOLT1A golgi transport 1 homolog A (S. cerevisiae) 737633 16710414,15489334,15221005,14702039,12477932,10406798 737633 127845 NM_198447,AL592114,CH471067,AB075871,AK124645,BC058832 NP_940849,CAH71227,EAW91508,BAD38653,BAC85915,AAH58832,Q6ZVE7 Hs.532401 CGI-141|FLJ42654|GOT1|HMFN1187|MGC62027|RP11-203F10.3|YMR292W protein-coding 1349948 GOLT1B golgi transport 1 homolog B (S. cerevisiae) 12761501,11256614,15489334,12975309,12477932,12414650,11230166,10810093,10406798 51026 NM_016072,AC006559,CH471094,AB097020,AF068292,AF151899,AK026999,AL136571,AY358975,BC012455,CR457389 NP_057156,EAW96439,EAW96440,EAW96441,EAW96442,EAW96443,BAC77373,AAF65181,AAD34136,CAB66506,AAQ89334,AAH12455,CAG33670,Q9Y3E0 Hs.62275 CGI-141|GOT1|YMR292W protein-coding 1606548 GON4L gon-4-like (C. elegans) 17297563,16710414,16545939,15489334,14702039,12477932,11230166,10997877,9373149,8125298 54856 CR618164,NM_001037533,NM_032292,AL139128,AL162734,CH471121,AB046826,AB195687,AB195688,AB232668,AK000210,AK022985,AK026693,AK098734,AK222851,AL136565,AY335490,AY335491,AY335492,BC036740,BC052260,BC064933,BC071650,BC114629,BC115703,BC117557,BX537764,BX648043,BX648802,CR598521 Q14BN2,Q14C93,Q1ED43,Q3T8J9,NP_001032622,NP_115668,CAH69942,CAH69947,CAH71640,EAW53029,EAW53030,EAW53031,EAW53032,EAW53033,EAW53034,EAW53035,EAW53036,BAB13432,BAF51556,BAF51557,BAF51560,BAA91011,BAB14347,BAB15528,BAC05397,BAD96571,CAB66500,AAR01260,AAR01261,AAR01262,AAH36740,AAH52260,AAH64933,AAH71650,AAI14630,AAI15704,AAI17558,CAD97829,CAH10549,Q53GT0,Q6PHZ4,Q8N7A2,Q9H5U2,Q9H986,Q9NXJ9 Hs.656361 DKFZp761I241|FLJ12923|FLJ20203|FLJ23040|GON-4|GON4|KIAA1606|MGC138817|MGC138818|RP11-101O6.1|RP11-243J18.4 protein-coding 1319891 GOPC golgi associated PDZ and coiled-coil motif containing PIST is a PDZ domain-containing Golgi protein. PDZ domains contain approximately 90 amino acids and bind the extreme C terminus of proteins in a sequence-specific manner.[supplied by OMIM] 1580863 11707463,11384996,17158866,16882988,16646955,16192284,16189514,16012170,15951434,15546864,15489334,15358775,15317815,15144186,14574404,14570915,12885772,12661006,12538861,12477932,12471024,12372286,12149515,11520064,11162552,9843494 57120 NM_001017408,NM_020399,AL589939,CH471051,Z85999,AB209385,AF287894,AF450008,AJ420540,AK025074,AY033606,BC009553 NP_001017408,NP_065132,EAW48204,EAW48205,CAI43172,CAI43173,BAD92622,AAG00572,AAL47160,AAK57733,AAH09553,Q9HD26 Hs.191539 CAL|FIG|GOPC1|PIST|dJ94G16.2 protein-coding 1348402 GORASP1 golgi reassembly stacking protein 1, 65kDa 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 a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Several alternatively spliced transcript variants of this gene have been identified, but their full-length natures have not been determined. 1580863 15678101,16489344,15888544,15834132,15576368,15489334,15231748,14702039,12839990,12543795,12477932,12111718,11815631,11781572,11739402,11739401,11706049,11447294,11285137,11050165,9628863,9346242,16189514 64689 NM_031899,AC138124,CH471055,AJ409349,AK001574,AK027096,AK057043,AK091168,AK124755,AW082955,BC008928,BC064624,BC075854,BC103826,BC103827,CR603340 NP_114105,EAW64552,EAW64553,EAW64554,EAW64555,EAW64556,EAW64557,EAW64558,EAW64559,EAW64560,CAC35160,BAC03598,AAH08928,AAH75854,AAI03827,AAI03828,Q9BQQ3 Hs.700669 GDB:11506087 FLJ23443|GOLPH5|GRASP65|MGC118894|MGC118897|P65 protein-coding 736034 GORASP2 golgi reassembly stacking protein 2, 55kDa 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 establishing the stacked structure of the Golgi apparatus. 632865 17081983,16964243,16501559,16189514,15489334,14702039,12477932,11815631,11739402,11739401,11408587,11101516,10487747,9373149,8125298 632865 26003 BC001408,BC007770,BG034906,CR608108,NM_015530,AC010092,CH471058,AI052563,AK023082,AK023201,AK027202,AK027349,AK125761,AK225810,AL117430 AAH07770,Q53TE3,Q9H8Y8,ABM83641,ABM86891,NP_056345,AAY15076,EAX11225,EAX11226,EAX11227,BAB14395,BAB14459,BAB55054,CAB55919 Hs.431317 GDB:11506089 DKFZP434D156|FLJ13139|GOLPH6|GRASP55|GRS2|p59 golgi reassembly stacking protein 2 protein-coding 737606 GOSR1 golgi SNAP receptor complex member 1 This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 70749,1298632,1580863 15215310,8636227,16571679,15489334,15004235,14702039,12477932,12388752,11042152,10198168,9653160,8638159,12121660,16189514,9325254,11927603,9647643,9094723,10747018 70749,1298632 9527 NM_001007024,NM_004871,NM_001007025,AC006050,AC011840,AF229797,CH471159,AF047438,AF073926,AK000606,AK074298,AK128816,AK291381,AL049346,BC012620,BC040072,BC040471,BE785872,BG654545,CB054624 NP_001007025,NP_004862,NP_001007026,AAK01856,EAW51229,EAW51230,EAW51231,AAC39889,AAD12945,BAF84070,AAH12620,AAH40471,O95249,Q96QI9,Q9BZZ3 Hs.462680 GDB:9957248 GOLIM2|GOS-28|GOS28|GOS28/P28|GS28|P28 protein-coding 731739 GOSR2 golgi SNAP receptor complex member 2 This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. 68203,1580863 9349823,16341674,15781476,15489334,12477932,11927603,11035026,10198168,9647643,9094723,16189514 68203 9570 NM_004287,NM_054022,NM_001012511,AC005670,CH471231,AF007548,AF229796,AK290890,BC009710,BC034762,BM846811,CR592527 NP_004278,NP_473363,NP_001012529,EAW57694,EAW57695,EAW57696,EAW57697,EAW57698,EAW57699,EAW57700,AAB82651,AAK01855,BAF83579,AAH09710,AAH34762,O14653,Q8N4B8,ABM82387,ABM85564 Hs.463278 GDB:9957372 Bos1|GS27 protein-coding 735827 GOT1 glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. 1580863,1300048 2182221,2241899,2731362,6391741,8396422,7060339,17907318,16681433,15489334,15306699,15164054,12480555,12477932,10360399,9110174,8619474,6397370,3207426,2777255,2225456,1974457,225064 2805 NM_002079,AF080467,AL391684,CH471066,AF052153,AY513279,BC000498,CR598904,CR601723,CR605482,CR606661,CR615083,CR616132,CR619243,CR620721,CR621846,CR622320,CR625110,CR625122,CR626608,M37400 NP_002070,AAC32851,CAH73859,EAW49868,EAW49869,AAC28622,AAT08032,AAH00498,AAA35563,P17174,Q2TU84 Hs.500756 GDB:120008 GIG18 glutamate oxaloacetate transaminase 1 protein-coding 1602185 GOT1L1 glutamic-oxaloacetic transaminase 1-like 1 17494625,12477932 137362 NM_152413,AC130304,CH471080,BC029504,BM559469 NP_689626,EAW63345,EAW63346,AAH29504,Q8NHS2 Hs.380740 MGC33309 protein-coding 734091 GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. 1580863,1300048 12477932,9373149,2182221,2567216,2731362,9537447,17728674,17442055,16212419,15489334,14702039,6397370,5450376,4052435,3997814,3207426,2899080,2777255,752471,376500,17353931,16189514,8125298,7559589,7225087,7114792,6930651 2806 CR600716,CR612588,M22632,NM_002080,AC012183,CH471092,AK098313,AK223271,AK290847,AL516773,BC000525 AAA35568,P00505,ABM82809,ABM85994,NP_002071,EAW82988,EAW82989,BAD96991,BAF83536,AAH00525 Hs.562657 GDB:120009 FLJ40994|KAT4|KATIV|mitAAT glutamate oxaloacetate transaminase 2 protein-coding 1347290 GOT2L1 glutamic-oxaloacetic transaminase 2-like 1 2807 GDB:120010 1344778 GOT2L2 glutamic-oxaloacetic transaminase 2-like 2 2808 GDB:125356 1351834 GOT2L3 glutamic-oxaloacetic transaminase 2-like 3 2809 GDB:120011 1321026 GP1BA glycoprotein Ib (platelet), alpha polypeptide Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that are linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Several polymorphisms and mutations have been described in this gene, some of which are the cause of Bernard-Soulier syndromes and platelet-type von Willebrand disease. 1580432,1580433,1580444,1580446,1580863 7721887,12855810,9410473,3353370,15297306,1939645,8608228,18403734,18383324,18339097,18283530,18260892,18225582,18057877,17962622,17922811,17873907,17786291,17763149,17728329,17634946,17630485,17619827,17598011,17597992,17494758,17414217,17408410,17379771,17346829,17303802,17261793,17196570,17143557,17105818,17100656,17029210,16986133,16806233,16774914,16723382,16373331,16263699,16260637,16179345,16118501,15978109,15933060,15892865,15841318,15564935,15546585,15512545,15501784,15489334,15477207,15386532,15375170,15355504,17096706,17083647,15346842,15319289,15317813,15311155,15269835,15249683,15166939,15054037,15045135,14968555,14961148,14711733,14675395,14639140,14592833,14521606,14521605,12968031,12952972,12881531,12871600,12871418,12855811,12791664,12724616,12719784,12665801,12637314,12590614,12522011,12499711,12477932,12463594,12393736,12362242,12183630,12091342,12087105,12082590,12073410,12070018,12038791,12036879,12036871,11994555,11981108,11943773,11937271,11859854,11858499,11858495,11812775,11776327,11776304,11751671,11700320,11698306,11696542,11686325,11583876,11514372,11437595,11418460,11307841,11260063,11222377,11167769,11159511,10899906,10801853,10627461,10499919,10429193,10391209,10089893,9651345,9639514,9454760,9269768,9088113,8631758,8486780,8400294,8384898,7873390,7819107,7690959,7690774,7632942,6336654,3759960,3497398,3303030,2946332,2933256,2845978,2628181,2557900,2436691,2070794,2052556,1730602,1730088,1702906,1586750,1577776,16189514,9092683 1580432,1580433,1580444,1580446 2811 AB038516,NM_000173,AB086948,AC109333,AF395009,AM709890,CH471108,D85894,L39103,M22403,S34436,S34439,BC027955,BE463855,J02940 BAB12038,NP_000164,BAC10305,AAK71325,CAM97225,EAW90393,BAA12911,AAA69491,AAA52596,AAB22152,AAB22153,AAH27955,AAA52595,P07359,Q06AK0,ABM81869,ABM85031 Hs.1472 GDB:118806 BSS|CD42B|CD42b-alpha|GP1B|MGC34595 protein-coding 1345881 GP1BB glycoprotein Ib (platelet), beta polypeptide Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal within a separate gene (septin 5) located upstream of this gene. In the absence of polyadenylation from its own imperfect site, the septin 5 gene uses the consensus polyA signal of this gene. 1580863,1580446 11943773,3353370,12871509,1939645,8608228,18064328,17922811,17597992,15477207,15213102,12958615,12860973,12665801,12648286,12529755,12522011,12477932,12463594,12361948,12036872,11816714,11816713,11812775,10887115,10627461,10429193,9425086,9116284,9022087,8703016,8200976,8034572,8021244,7782333,7690959,3632685,3161731,2557900,2504723 1580446 2812 NM_000407,AB086231,AC000093,AF006988,J03259,L20860 NP_000398,BAC00777,AAC39781,AAA52594,AAA20398,P13224,AAI60146 Hs.283743 GDB:128731 CD42c protein-coding 737446 GP2 glycoprotein 2 (zymogen granule membrane) 1580863 16000323,12477932,12324456,11853552,11039464,10760606,9605860,8666297,7519402,7503984,2076702,2011597,1651706,1531535,1284286,16189514 2813 NM_001007242,NM_001007241,NM_001502,NM_001007240,AB135541,AB135542,AC106796,CH471186,AB035541,AB035542,BC032693,BG661274,BX646730,BX647831,BX648023,BX648201,BX649067,CR749600,D38225,U36221 Q68D34,Q8N1A3,NP_001007243,NP_001007242,NP_001493,NP_001007241,EAW50310,EAW50311,EAW50312,EAW50313,BAA88166,BAA88167,AAH32693,CAH18396,BAA07400,AAB19240,P55259 Hs.709961 GDB:7087506 DKFZp779K0533|ZAP75 protein-coding 736629 GP5 glycoprotein V (platelet) Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 193400) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder.[supplied by OMIM] 1580863,1580446 7690959,1939645,8608228,10429193,16263699,16179345,15691827,15477207,11686325,9425086,9326233,9269768,9129030,8519770,8407908,7900083,7782333,2372284,2350580,1730602 1580446 2814 NM_004488,AC125362,CH471052,Z23091,L11238 NP_004479,EAW78053,CAA80637,AAA03069,P40197,AAI52811 Hs.73734 GDB:230236 CD42d protein-coding 1343427 GP6 glycoprotein VI (platelet) Glycoprotein VI (GP6) is a 58-kD platelet membrane glycoprotein that plays a crucial role in the collagen-induced activation and aggregation of platelets. Upon injury to the vessel wall and subsequent damage to the endothelial lining, exposure of the subendothelial matrix to blood flow results in deposition of platelets. Collagen fibers are the most thrombogenic macromolecular components of the extracellular matrix, with collagen types I, III, and VI being the major forms found in blood vessels. Platelet interaction with collagen occurs as a 2-step procedure: (1) the initial adhesion to collagen is followed by (2) an activation step leading to platelet secretion, recruitment of additional platelets, and aggregation. In physiologic conditions, the resulting platelet plug is the initial hemostatic event limiting blood loss. However, exposure of collagen after rupture of atherosclerotic plaques is a major stimulus of thrombus formation associated with myocardial infarction or stroke (Jandrot-Perrus et al., 2000 [PubMed 10961879]).[supplied by OMIM] 1580863 15203711,15142951,15057824,14656994,14563646,14504096,12871362,12871331,12850831,12847105,12649139,12594225,12560230,12477932,12377757,12362238,12359731,12356768,12049640,12010829,11990697,11964287,11943772,11825911,10961879,10825177,10506151,2808700,1715582,10822077,9153205,9028946,9280292,9295288,18064326,17958751,17848620,17764536,17663743,17110603,17105818,17096705,17085439,17068334,16956881,16876821,16861347,16847120,16493486,16405521,16219796,16113793,16102042,16080811,16014566,15946524,15939050,15923400,15886326,15841318,15701720,15701717,15507524,15489334,15466473,15456756,15339851,15308568,15306180,15280902,15277394,15265786,15231520,15203713,11027634 51206 NM_001083899,NM_016363,AB043943,AC011476,AF521646,CH471135,AB035073,AB043819,AB043820,AB043821,BC069485,BC104832,BC111963,BQ216894 NP_001077368,NP_057447,BAB12248,AAN86273,EAW72324,EAW72325,EAW72326,BAA89353,BAB12245,BAB12246,BAB12247,AAI04833,AAI11964,Q9HCN5,Q9HCN6 Hs.661752 GDB:11500433 GPIV|GPVI|MGC138168 protein-coding 1351167 GP9 glycoprotein IX (platelet) Platelet glycoprotein IX (GP9) is a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib (GP Ib), a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor (VWF; MIM 193400). The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with GP9 and platelet glycoprotein V (GP5; MIM 173511).[supplied by OMIM] 1599275,1580863,1580446 9432024,2771955,1939645,8608228,10429193,18057877,17922811,17804902,17763149,15477207,15351858,14510954,12665801,12517745,12477932,12463594,12447957,12361948,12100158,12036872,11812775,11758225,11686325,11167791,10583255,9886312,9269768,9184424,9163595,8811076,8481514,8429020,8049428,7782333,3056407,2557900,2436691,2253772 1599275,1580446 2815 NM_000174,AC108673,CH471052,D88290,D89621,M80478,BC030229,M25827,X52997 NP_000165,EAW79285,BAA13580,BAA24428,AAB40042,AAH30229,AAA36809,CAA37186,O43705,P14770,Q8N1D1,ABM84263,ABM87654 Hs.1144 GDB:126370 CD42a|GPIX protein-coding 1315484 GPA33 glycoprotein A33 (transmembrane) The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. 1580863 9012807,17227111,15489334,12853980,12477932,12114523,9542130,9245713 10223 NM_005814,AL158837,CH471067,BC069705,BC069723,BC069745,BC069761,BC069789,BC074830,BC074876,BC107164,BC107165,U79725 NP_005805,CAH69957,EAW90783,AAH69705,AAH69723,AAH69745,AAH69761,AAH69789,AAH74830,AAH74876,AAI07165,AAI07166,AAC50957,Q5VZP6,Q99795 Hs.651244 GDB:9955747 A33|MGC129986|MGC129987 protein-coding 1353728 GPAA1 glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. 1580863 12477932,10393431,9828142,16189514,14660601,9468317,10793132,11483512,15713669,12052837,1846368,18028549,16642471,15489334,12802054,12582175 8733 NM_003801,AB002137,AB017267,AC109322,CH471162,CQ834368,AB002135,AB006969,BC003171,BC004129,BC006383,CR610462,AL157437 NP_003792,BAA82590,BAA82587,EAW82161,EAW82162,EAW82163,EAW82164,EAW82165,CAH05399,BAA82588,BAA24035,AAH03171,AAH04129,AAH06383,O43292,CAB75660,ABM85965,ABW03763 Hs.627962 GDB:9956767 GAA1|hGAA1 gpaa1p anchor attachment protein 1 homolog (yeast) protein-coding 1345601 GPAA1P1 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 1331365 10393431 1331365 22945 NG_001245,AB017268,AC013268 GDB:9957756 pseudo 1345985 GPAM glycerol-3-phosphate acyltransferase, mitochondrial Glycerol-3-phosphate acyltransferase (GPAT; EC 2.3.1.15), which catalyzes the initial and committing step in glycerolipid biosynthesis, is predicted to play a pivotal role in the regulation of cellular triacylglycerol and phospholipid levels. Two mammalian forms of GPAT have been identified on the basis of localization to either the endoplasmic reticulum or mitochondria.[supplied by OMIM] 1580863 16381901,15489336,15164054,12477932,11546763,11230166,11076863,10997877,9434961,8369314,2303421,2242030 57678 BX647451,AL391986,CH471066,AB046780,AK025752,AK172782,AK172799,AL832464,AL833061,AL833093,BC030783,NM_020918 AAH30783,Q5VW52,Q6ZMF6,Q6ZMG4,Q86T70,Q86TA3,Q8N1G6,Q9HCL2,CAL37491,NP_065969,CAH73716,CAH73717,EAW49543,EAW49544,EAW49545,BAB13386,BAD18763,BAD18772,CAD89967,CAD89932 Hs.42586 GPAT1|KIAA1560|MGC26846|RP11-426E5.2 protein-coding 1318991 GPATCH1 G patch domain containing 1 737633 14702039,12477932 737633 55094 NM_018025,AC008521,AF434677,AK001068,AK091835,AK096005,AK292503,AL834465,BC006108 NP_060495,AAN63596,BAA91489,BAF85192,CAD39124,AAH06108,Q9BRR8 Hs.466436 ECGP|FLJ10206|FLJ34516|FLJ38686|GPATC1 protein-coding 1318884 GPATCH2 G patch domain containing 2 737633,1580863 17081983,15489334,14702039,12477932 737633 55105 NM_018040,AC096641,AL354659,CH471100,AK001114,AK024701,AK291238,BC027719,BC042193,BC063474 NP_060510,CAH70663,CAH70664,EAW93333,BAA91509,BAF83927,AAH27719,AAH42193,AAH63474,Q5VYK7,Q5VYK8,Q6PIX0,Q9NW75 Hs.420757 FLJ10252|FLJ21048|GPATC2|MGC74998|RP11-361K17.1 protein-coding 1347677 GPATCH3 G patch domain containing 3 16710414,15489334,14702039,12477932 63906 NM_022078,AL034380,AL356390,CH471059,AK022517,AK057930,AL833886,BC007767,CR601046,CR619450,CR936767 NP_071361,CAI21617,CAI21618,CAI21630,EAX07783,BAB14074,CAD38742,AAH07767,Q0JSW1,Q0JU14,Q5JYG5,Q96I76 Hs.10903 DKFZp686E0221|FLJ12455|GPATC3 protein-coding 1606544 GPATCH4 G patch domain containing 4 15635413,14702039,12477932 54865 NM_015590,AL365181,CH471121,AK000256,AK055377,AK125763,AK293026,BC032436,BC040147,NM_182679,BC056904,BF669837,BM997996,BQ214732,CR605231 NP_872620,NP_056405,CAI13052,CAI13053,EAW52935,EAW52936,EAW52937,EAW52938,BAA91036,BAC86278,BAF85715,AAH32436,AAH40147,Q5T3I0,Q6PGP2,Q9UFQ7,AAI52775 Hs.193832,Hs.708599 GPATC4 protein-coding 1604390 GPATCH8 G patch domain containing 8 17081983,16713569,16565220,15498521,15302935,12477932,10477733,9628581 23131 NM_001002909,AC007722,AC103703,AF160252,CH471178,AB011125,AK025600,BC017808,BC024147,BC063601,CB161089,CD709791,CR605384 NP_001002909,AAF03681,EAW51593,BAA25479,AAH24147,Q8TB99,Q9UKJ3 Hs.463129 GPATC8|KIAA0553 protein-coding 1351664 GPB glycerol phosphatase, beta- 2833154 2816 GDB:120014 736919 GPBAR1 G protein-coupled bile acid receptor 1 This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. 634464,1580863 17326144,17214962,17178880,16400329,15489334,14702039,12524422,12477932,12419312,12044878 634464 151306 NM_001077191,NM_001077194,NM_170699,AB083601,AC021016,CH471063,AB086170,AB089307,AK122658,AK122660,BC033625,BI834364,CR604439,CR625402 NP_001070659,NP_001070662,NP_733800,BAB89314,EAW70598,BAC65343,BAC55235,AAH33625,Q8TDU6,ABM82266,ABM85448 Hs.160954,Hs.709029 BG37|GPCR|GPCR19|GPR131|M-BAR|MGC40597|TGR5 protein-coding 1607008 GPBP1 GC-rich promoter binding protein 1 17672918,16381901,16344560,15489336,14612417,12842993,12477932,11256614,11230166,11076863,8889548 65056 NM_001127235,NM_001127236,AC008435,AC034244,CH471123,AK024807,AK307505,AL136844,AL161991,AY226828,BC000267,NM_022913,BC070132,BC113004,BM985337,CR592663,DB089516,DB271841 NP_075064,NP_001120707,NP_001120708,EAW54961,EAW54962,EAW54963,EAW54964,EAW54965,EAW54966,BAB15013,CAB66778,CAB82324,AAO34124,AAH00267,AAH70132,AAI13005,Q86WP2,CAL37429,CAL38320 Hs.444279 DKFZp761C169|GPBP|MGC126339|VASCULIN protein-coding 1605641 GPBP1L1 GC-rich promoter binding protein 1-like 1 16189514,12477932,9373149 60313 AL604028,CH471059,AF177334,AK024972,AK027212,AK225197,AL834194,BC015713,BC022218,BC022863,BC052257,BC068578,CR610679,NM_021639,CR617948,CR625342 NP_067652,CAI16664,EAX06956,EAX06957,EAX06958,EAX06959,EAX06960,AAG17978,BAB15047,CAD38884,AAH15713,AAH22218,AAH52257,Q9HC44,ABM83410,ABM86621 Hs.238432 RP11-767N6.1|SP192 protein-coding 730930 GPC1 glypican 1 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. 1580863 12972423,12477932,12084716,11968010,11454708,11375980,11336704,10527946,10364234,10196157,9802880,9373149,8125298,7774946,1417860,2148568,17016645,16723715,15547662,15489334,15297422,15249209,15084524,14702039 2817 NM_002081,AC110619,CH471063,CS072948,AK095397,AK096638,AK223516,BC008123,BC045712,BC051279,BG825129,CR598136,CR600471,CR601353,CR611835,X54232 NP_002072,AAY24160,EAW71180,EAW71181,EAW71182,EAW71183,EAW71184,CAI93681,BAD97236,AAH51279,CAA38139,P35052,Q05C97,Q4G0N2,Q53EX3,Q53QM4 Hs.328232 GDB:355568 FLJ38078|glypican protein-coding 731703 GPC2 glypican 2 728608,1580863 11256614,16381901,15489336,15489334,14702039,12690205,12477932,11230166,11076863,8294498 728608 221914 CH236956,CH471091,AK096281,AL834418,AY093588,BC027972,CR615288,NM_152742,AC073842 EAL23846,EAW76578,BAC04745,CAD39080,AAH27972,Q0JUM4,Q8N158,CAL37787,ABM84251,ABM87640,NP_689955 Hs.211701 GDB:355573 DKFZp547M109|FLJ38962 cerebroglycan protein-coding 737615 GPC3 glypican 3 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome. 704404,1580863 8589713,7657705,17949790,17949778,17603795,17581422,17549790,17087938,16682817,16675560,16299239,16227623,15772651,15475451,15083193,14661052,12824919,12816733,12478660,12477932,12085187,11893651,11320054,11193214,10814714,9950367,9931407,9853964,9787072,9630066,9373149,9371521,9339360,9133586,9021160,8125298,7909248,7487896 2719 NM_004484,AC002420,AF003529,AL008712,AL009174,AL034401,AL662851,CH471107,CS208011,L47124,Z99570,AK222761,AK222766,BC035972,CR593041,CR594389,CR600770,CR611970,CR620091,CR624507,DQ349136,DQ349137,DQ349138,L47125,L47176,U50410,Z37987 NP_004475,AAB87062,EAX11769,EAX11770,EAX11771,CAJ44931,AAA98131,BAD96486,AAH35972,ABC72125,ABC72126,ABC72127,AAA98132,AAB58806,AAA93471,CAA86069,P51654,Q1MTS4,Q2L880,Q2L882,Q53H15,Q8IYG2,ABM84584,BAD96481,ABM86748 Hs.644108 GDB:3770726 DGSX|OCI-5|SDYS|SGB|SGBS|SGBS1 protein-coding 1347282 GPC4 glypican 4 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. 1580863 9787072,9931407,15772651,15489334,12975309,12477932,12009023,11336704,11066092,10814714,10585884,7657705 2239 NM_001448,AF030195,AL034400,AL109623,CH471107,AF030186,AF064826,AF088063,AY052833,AY358507,BC017166 NP_001439,AAF22364,EAX11772,AAC69991,AAC31899,AAL11018,AAQ88871,AAH17166,O75487,Q86SV6,ABM82735,ABM85918 Hs.58367 GDB:3770727 K-glypican protein-coding 1318835 GPC5 glypican 5 Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. 1580863 7657705,18195134,17846126,15489334,15057823,12721791,12477932,11566272,11292377,9331333,9070915 2262 NM_004466,AL138714,AL157363,AL157768,AL157815,AL157821,AL159152,AL162456,AL163537,AL354871,AL356118,AL356737,AL596221,CH471085,AF001462,BC030584,BC039730,U66033 NP_004457,CAI13232,EAX08927,AAC12261,AAH39730,AAC51118,P78333 Hs.655675 GDB:5215220 protein-coding 1352914 GPC6 glypican 6 The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans. The glypicans have been implicated in the control of cell growth and division. Glypican 6 is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. 1580863 12975309,12477932,10480909,7657705,10329016,15489334,15057823 10082 NM_005708,AL138700,AL139798,AL160036,AL160159,AL161426,AL162455,AL354762,AL354811,AL356598,AL357275,AL450425,AL606810,CH471085,AF105267,AF111178,AK074741,AK130013,AY358462,BC106947,AL137144 NP_005699,CAC39445,CAI15668,CAH71606,CAC40695,CAC21820,EAX08931,EAX08932,EAX08933,EAX08934,AAD55749,AAD31392,AAQ88827,AAI06948,Q9Y625,CAH71332 Hs.444329 GDB:9954978 MGC126288 protein-coding 733156 GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 1580863 7772607,16849634,16460752,16169070,15489334,14674682,12477932,11822825,10190973,9851831,9247308,2398890,1052094 2819 NM_005276,AC025154,CH471111,M36917,AK130162,BC017429,BC032234,CR593251,L34041 NP_005267,EAW58128,EAW58129,AAA35925,AAH32234,AAA92863,P21695,ABM92243,ABM84719 Hs.524418 GDB:119281 FLJ26652 glycerol 3-phosphate dehydrogenase protein-coding 1345791 GPD1L glycerol-3-phosphate dehydrogenase 1-like 737633 17967977,17967976,12477932,7788527 737633 23171 NM_015141,AC094019,CH471055,AK074221,AK125404,AK292808,BC006168,BC028726,D42047 NP_055956,EAW64421,EAW64422,BAF85497,AAH06168,AAH28726,BAA07648,Q8N335 Hs.82432 KIAA0089 protein-coding 737186 GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial) Mitochondrial glycerophosphate dehydrogenase (EC 1.1.99.5), or GPD2, is located on the outer surface of the inner mitochondrial membrane and catalyzes the unidirectional conversion of glycerol-3-phosphate (G-3-P) to dihydroxyacetone phosphate (DHAP) with concomitant reduction of the enzyme-bound FAD. Together with a cytosolic NAD-linked GPD (GPD1; MIM 138420), GPD2 forms the glycerol phosphate shuttle, which uses the interconversion of G-3-P and DHAP to transfer reducing equivalents into mitochondria, resulting in the reoxidation of NADH formed during glycolysis.[supplied by OMIM] 704404,1580863 9070847,17886033,16344560,16341674,15967408,15456763,14702039,12477932,11243726,9110174,8682323,8619474,8549872,7821823,6790537,6406231,3943520,2065091,167714 2820 NM_001083112,NM_000408,AC011308,AC092686,CH471058,U40367,AB209399,AF311325,AK022596,AK027840,AK093198,AK123563,AK290057,AK291065,AK292817,AL699359,AL703918,BC019874,BM750374,DA220999,DB227007,U12424,U36310,U79250 NP_001076581,NP_000399,AAY24329,AAY24073,EAX11452,EAX11453,AAC50556,BAD92636,AAG33851,BAF83754,BAF85506,AAH19874,AAA65701,AAB60403,AAB50200,P43304,Q53RD0,Q53T76,Q8WUQ0,BAF82746 Hs.512382 GDB:354558 GDH2|GPDM|mGPDH glycerol-3-phosphate dehydrogenase 2 protein-coding 1345276 GPDS1 glaucoma-related pigment dispersion syndrome 1 9076212 7986 GDB:9956410 735664 GPER G protein-coupled estrogen receptor 1 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum. The protein binds estrogen, resulting in intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. Alternate transcriptional splice variants which encode the same protein have been characterized. 1580863 8920907,17878253,17655271,17638621,16520733,16344560,16280047,16239258,16210518,16125968,15994455,15771623,15761144,15705806,15539556,15511221,15489334,15245432,15090535,14675202,14632195,12744705,12690205,12477932,12446589,12193550,12027886,11897506,11773440,11043579,9479505,9398636,9367686,9141481,9070864,8889548 2852 NM_001039966,NM_001505,NM_001098201,AC091729,AF007171,AF027956,CH236953,CH471144,U77827,AF015257,AK289588,AK291590,AY265807,AY265808,AY265809,BC011634,BC067849,BC082766,BM672716,CR541655,CR541741,DA014990,DC381205,U58828,U63917,X98510,Y08162 NP_001035055,NP_001496,NP_001091671,AAC52027,EAL23938,EAW87194,EAW87195,AAC51173,AAC51904,BAF82277,BAF84279,AAP40320,AAP40321,AAP40322,AAH11634,AAH82766,CAG46456,CAG46541,AAB02736,AAB88017,CAA67133,CAA69354,Q63ZY2,Q6FHU6,Q7Z7A7,Q7Z7A8,Q7Z7A9,Q99527,ABM82828,ABM86014 Hs.20961 GDB:6268476 CEPR|CMKRL2|DRY12|FEG-1|GPCR-Br|GPR30|LERGU|LERGU2|LyGPR|MGC99678 g protein-coupled receptor 30 protein-coding 1346484 GPHA2 glycoprotein hormone alpha 2 GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM] 1580863 12089349,17363077,16376481,15890769,15489334,12045258,12477932,11809971 170589 NM_130769,AP001187,CH471076,CS172789,AF260739,BC093960,BC093962,BC101523 NP_570125,EAW74326,EAW74327,CAJ32901,AAK51638,AAH93960,AAH93962,AAI01524,Q96T91 Hs.436119 GDB:11506091 A2|GPA2|MGC126572|ZSIG51 protein-coding 1342611 GPHB5 glycoprotein hormone beta 5 GPHB5 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM] 15489334,12508121,12477932,12089349,12045258,16210345,15890769 122876 NM_145171,AL049871,CH471061,AF403430,AF467770,BC069113,BC133702 NP_660154,EAW80825,AAM53261,AAO33390,AAH69113,AAI33703,Q86YW7 Hs.375028 B5|GPB5|ZLUT1 protein-coding 69477 GPHN gephyrin This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. 69377,1300220,1625104,1558665,1300048,1580863 18334916,17293395,16964243,15489334,14751928,14622920,12967995,12754701,12684523,12535948,12477932,12097491,11727829,11554796,11418245,11095995,10947798,10900017,10839351,10718198,10607391,10325225,10037506,9473484,7546736,1657993,1319186,14760703 69377,1300220,1625104,1558665 10243 AK025169,BC030016,BQ575870,CR626254,NM_020806,NM_001024218,AL049835,AL117667,AL133241,AL135978,AL139295,AL159179,AL355093,CH471061,AB037806,AF272663,AJ272033,AJ272343 CAC10537,AAH30016,Q96KU4,Q9NQX3,ABM83389,ABM86601,NP_065857,NP_001019389,EAW80923,EAW80924,EAW80925,EAW80926,BAA92623,AAF81785,CAC81240 Hs.208765 GDB:11504507 GEPH|GPH|GPHRYN|KIAA1385 protein-coding 1344852 GPI glucose phosphate isomerase This gene belongs to the GPI family whose members encode multifunctional phosphoglucose isomerase proteins involved in energy pathways. The protein encoded by this gene is a dimeric enzyme that catalyzes the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. The protein functions in different capacities inside and outside the cell. In the cytoplasm, the gene product is involved in glycolysis and gluconeogenesis, while outside the cell it functions as a neurotrophic factor for spinal and sensory neurons. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. 1625539,1600633,1600631,1600632,1580863 18311788,17925402,17690101,17071500,17041899,16949042,16563432,15850830,15637053,15570012,15489334,15369782,15290745,15059907,15034067,14715248,14566819,12783864,12737943,12573240,12527360,12517804,12477932,12054796,8575767,7435496,3020690,11896393,11896391,11688991,11264592,11004567,10916680,10727272,10216265,9856489,9616041,9446754,8822954,8822952,8499925,7989588,7545951,3352745,2544027,2387591,2547084,11431735,11418246 1625539,1600633,1600631,1600632 2821 CR599066,CR600477,CR600588,CR603258,CR606478,CR614183,CR620238,CR620767,CR624212,K03515,X16539,AC010504,AC092073,AY324386,M55538,M61214,X83456,X83457,X83458,X83459,X83460,X83461,X83462,X83463,X83464,AK025421,AK129884,AK130102,BC004982,BC006342,NM_000175 AAH06342,AAA36368,P06744,Q9BRD3,ABM83850,ABM87172,AAP72966,AAA52593,AAH04982,NP_000166 Hs.466471 GDB:120015 AMF|GNPI|NLK|PGI|PHI|SA-36 protein-coding 1606107 GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 17997385,17883852,17620854,17403372,12477932 338328 NM_178172,AC138696,CH471162,AF088057,AY245915,BC035810,BC063857 NP_835466,EAW82276,AAO86519,AAH35810,AAH63857,Q8IV16 Hs.426410 GPI-HBP1 protein-coding 1343451 GPKOW G patch domain and KOW motifs 737633 17081983,16271871,16189514,15489334,12477932,8938429 737633 27238 NM_015698,AF196779,CH471224,AB209806,BC000397,BC003148,CR591633,CR592275,CR594773,CR600514,CR602335,CR606999,CR607315,CR613138,CR614725,CR615301,CR619271,CR619819,CR621425,CR625222,CR625229,U66359 NP_056513,EAW50694,BAD93043,AAH00397,AAH03148,AAB18640,Q92917 Hs.503666 GPATC5|GPATCH5|T54 protein-coding 1606585 GPLD1 glycosylphosphatidylinositol specific phospholipase D1 Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. 18298948,17949898,17467053,16831865,16335952,15814706,15500962,15500911,15489334,14767861,14574404,12536633,12477932,12367767,12090469,11989719,11939719,11939716,11938765,11254757,11072085,10752311,7512501,2017684,1606959 2822 NM_001503,NM_177483,AJ400872,AJ400873,AJ400874,AJ400875,AJ400876,AL031230,AL359713,CH471087,AJ308108,AY007546,BC007614,BC020748,BC093645,BC112001,CR593011,L11701,L11702 NP_001494,NP_803436,CAC14844,CAD92520,CAI22602,CAI17103,EAW55448,EAW55449,EAW55450,EAW55451,CAC87068,AAG16627,AAH07614,AAH20748,AAH93645,AAI12002,AAA36444,AAA36445,P80108,AAI56272,AAI57057 Hs.591810 GDB:9864297 GPIPLD|GPIPLDM|MGC22590|PIGPLD|PIGPLD1 protein-coding 736321 GPM6A glycoprotein M6A 1580863 12493773,15822905,15489334,12477932,12359212,8893821,8807448,8661015 2823 NM_201592,BC044612,BC053954,BI544825,BI546539,BI596896,BI670059,D49958,H16369,U45956,NM_005277,NM_201591,AC093819,AC097537,AC110794,CH471056,AI609188,AK226176,BC010461,BC022508,BC022528,BC032904,BC037853 Q86YB0,ABM83298,AAH44612,BAA08712,AAB16889,P51674,Q49AH3,ABM86507,NP_963886,NP_005268,NP_963885,EAX04724,EAX04725,AAH22508,AAH22528,AAH37853 Hs.75819 GDB:1278220 GPM6|M6A protein-coding 1349867 GPM6B glycoprotein M6B 1580863 8661015,16381901,15489336,15489334,15214007,14702039,12477932,11749036,11230166,11076863,10397631,9674909,8398137 2824 NM_001001995,NM_001001994,NM_005278,NM_001001996,AC003035,AC003037,AF037347,AF047197,CH471074,AA991690,AB209525,AK095657,AK127103,AL119977,BC008151,BC047295,BF525674,BG532134,BI548345,BI599457,BI669888,CR592796,CR594784,CR601360,CR610603,U45955 CAL38697,ABM82467,ABM85655,CAL38658,NP_001001995,NP_001001994,NP_005269,NP_001001996,AAC19165,AAC19166,AAD13718,EAW98842,EAW98843,EAW98844,EAW98845,EAW98846,EAW98847,EAW98848,EAW98849,EAW98850,BAD92762,BAC04600,AAH08151,Q0JUG5,Q0JV82,Q0JVQ5,Q13491,Q59FD5,Q86X43,Q8N956,CAL37405,CAL37489,CAL37578,CAL37632,CAL37742,CAL37745,CAL37821,CAL37835,CAL37846,CAL37852,CAL37926,CAL38093,CAL38447,CAL38453,CAL38616,CAL38645,AAH47295,AAB16888,Q0JS17,Q0JS56,Q0JS69,Q0JS98 Hs.495710 GDB:1316856 M6B|MGC17150|MGC54284 protein-coding 1319547 GPN1 GPN-loop GTPase 1 1580863 11058119,16189514,15489334,12588985,12477932,11124703 11321 AAB25645,AAB26444,AAB27916 NM_007266,AC074091,CH471053,AB044661,AJ010842,BC007451,CR602623,CR608298,CR612976,CR617699 NP_009197,AAX93201,EAX00557,EAX00558,BAB17612,CAA09376,AAH07451,AAB25645,AAB26444,AAB27916,Q53RZ9,Q9HCN4,ABM84206,ABM87610 Hs.18259 ATPBD1A|MBDIN|NTPBP|XAB1 XPA binding protein 1, GTPase|xpa binding protein 1 protein-coding 1603309 GPN2 GPN-loop GTPase 2 16710414,15489334,14702039,12975309,12477932 54707 NM_018066,AL034380,CH471059,AK001211,AK022535,AY358864,AY364261,BC007815,BC008634,BC020272,BI766621,CR611767,CR617892 NP_060536,CAB92117,CAI21619,CAI21620,EAX07784,BAA91556,BAB14084,AAQ89223,AAQ76820,AAH07815,AAH08634,Q9H9Y4 Hs.14333 ATPBD1B|FLJ10349 protein-coding 1606002 GPN3 GPN-loop GTPase 3 11256614,16381901,15489336,12975309,12477932,11230166,11076863,9373149,8125298 51184 NM_016301,AC002350,AC144548,CH471054,AF117229,AK223209,AY359078,AY364262,BC008416,BC031024,BX537973,CR613385 NP_057385,EAW97914,AAF17210,BAD96929,AAQ89437,AAQ76821,AAH08416,AAH31024,CAD97937,Q0JS18,Q9UHW5,CAL37887,CAL38696 Hs.634680 ATPBD1C|MGC14560|MGC32810 protein-coding 736300 GPNMB glycoprotein (transmembrane) nmb The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7814155,17951401,17845721,17081065,16609006,16341674,16247014,15763343,15684612,15489334,15231748,14696968,12975309,12853948,12690205,12643545,12638126,12609765,12477932,12176896,9847074,16189514 10457 BM750843,BT007074,NM_001005340,NM_002510,AC005082,CH236948,CH471073,AF322909,AI952217,AJ505015,AK292078,AY359124,BC011595,BC025297,BC032783,BU537639,CD105306,CR620418,CR625459,CR626032,X76534 AAH32783,AAP35737,NP_001005340,NP_002501,AAP22336,AAP22337,EAL24259,EAW93781,EAW93782,EAW93783,EAW93784,AAG42839,CAD43718,BAF84767,AAQ89481,AAH11595,CAA54044,Q14956,Q8IXJ5,Q96F58,ABM83010,ABM86203 Hs.190495 GDB:9959004 HGFIN|NMB protein-coding 732710 GPR1 G protein-coupled receptor 1 1580863 7851889,16938805,16344560,16303743,15919664,15815621,15489334,12837283,12477932,10233994,10916084 2825 NM_005279,NM_001098199,AC007383,CH471063,U13666,AK075130,AK290976,AL550780,BC058005,BC067833,BX094581,BX389743,CA446989,CB269800,CR601592,CR612018,DA692381,DA988428,EF577403 NP_005270,NP_001091669,AAY15063,EAW70383,AAA64592,BAF83665,AAH58005,AAH67833,ABQ52423,P46091 Hs.184907 GDB:371707 protein-coding 1344763 GPR101 G protein-coupled receptor 101 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15489334,12477932,12044878,11574155 83550 NM_054021,AB065937,AB083588,AF411115,AL390879,CH471150,BC069439 NP_473362,BAC06152,BAB89301,AAL26486,CAI40047,EAW88450,AAH69439,Q5JSM8,Q96P66 Hs.350569 GDB:11506093 GPCR6 protein-coding 1351393 GPR103 G protein-coupled receptor 103 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 12960173,16648250,16344560,12714592,12477932,11574155 84109 NM_198179,AC093816,AC093867,CH471056,AB109629,BC128132,BC128133,BG169612,DA461055 NP_937822,EAX05261,EAX05262,BAC98938,AAI28133,AAI28134,Q96P65 Hs.368977 GDB:11508765 AQ27|MGC149217|SP9155 protein-coding 1314180 GPR107 G protein-coupled receptor 107 17454009,15164053,14702039,12477932,10997877,9373149,8125298 57720 AL136141,AL360004,AL392105,CH471090,AB046844,AF308603,AF376725,AJ420422,AJ420428,NM_020960,AK000825,AK021506,AK024651,AK025836,AK026244,AK074380,AK225456,AK293092,AL834359,BC007544,BC030147,BC039728,BC110518,BM920552,CR593570 NP_066011,CAI16952,CAI16953,EAW87920,EAW87921,EAW87922,EAW87923,EAW87924,EAW87925,BAB13450,AAQ14541,AAK57695,BAB15408,BAF85781,CAI46205,AAI10519,Q5VW38,Q71SA9 Hs.512461 GDB:11508924 DKFZp667C222|FLJ20998|FLJ22591|GCDRP|KIAA1624|LUSTR1|MGC126118|MGC15440|RP11-88G17|bA138E2.2 protein-coding 1344702 GPR108 G protein-coupled receptor 108 1580863 17454009,12477932 56927 NM_001080452,NM_020171,AC008760,CH471139,AI740753,AK291968,AL365404,AL522595,BC007862,BX400757,CA425869,CB961886,CR593607,CR602050,CR609369,CR613643,CR622510,EB387948 NP_001073921,NP_064556,EAW69066,EAW69067,EAW69068,BAF84657,CAB96950,AAH07862,Q96I30,Q9NPR9 Hs.167641 GDB:11506097 LUSTR2|MGC14393 protein-coding 1352808 GPR109A G protein-coupled receptor 109A 1299612,1580863 17932499,16674924,16018973,15489334,12646212,12522134,12477932,12044878 1299612 338442 NM_177551,AB065665,AB065876,AB083632,AC026333,EU012026,AK290915,AL572062,AL698846,AY148884,BC027965,BC056419,BC063461,CD364466 NP_808219,BAC05891,BAC06094,BAB89345,ABS29270,BAF83604,AAN71621,AAH27965,AAH56419,Q0P5T5,Q8NGV8,Q8TDS4 Hs.524812 HM74a|HM74b|PUMAG|Puma-g protein-coding 1348987 GPR109B G protein-coupled receptor 109B 1580863 7505609,17562024,16344560,15489334,12646212,12563315,12522134,12477932,12090300,9205127 8843 NM_006018,AB065865,AC026333,CH471054,EU293604,AK290930,BC038955,BC047891,BI908162,CB529340,CD366840,CU451507,D10923,DA948030,DA953971,R02740 NP_006009,BAC06083,EAW98335,EAW98336,ABX64359,BAF83619,AAH47891,BAA01721,P49019 Hs.458425 HM74|PUMAG|Puma-g protein-coding 1321097 GPR110 G protein-coupled receptor 110 1302390 15203201,14702039,14623098,14574404,12679517,12477932,12435584,12044878,9373149,8889548,8125298 1302390 266977 NM_153840,NM_025048,AB065679,AB083618,AL355518,CH471081,AB045123,AK026337,AK055208,AK095348,AK225460,AL698860,AY140952,AY255595,BC029358,BC104214,BC104215,BC113634,BC113636,BU675866,CD685935,CR627234 NP_722582,NP_079324,BAC45260,BAB89331,CAI13873,CAI13874,CAI13875,EAX04311,EAX04312,EAX04313,BAD83599,BAB15452,BAB70874,AAN46666,AAO85107,AAH29358,AAI04215,AAI13635,AAI13637,Q3SXM8,Q5T600,Q5T601,Q8TDT4,Q9H615 Hs.256897 FLJ22684|FLJ30646|KPG_012|MGC125952|PGR19|hGPCR36 protein-coding 1343922 GPR111 G protein-coupled receptor 111 1580863 15203201,14574404,12679517,12565841,12435584,12044878 222611 NM_153839,AB065684,AB083617,AL356421,CH471081,AK126683,AY140953,AY255612,DQ315369 NP_722581,BAC05907,BAB89330,CAI15578,EAX04320,BAC86641,AAN46667,AAO85124,ABC41928,Q2PNZ1,Q6ZTE9,Q8IZF7,AAI56187,AAI57026 Hs.150131 PGR20|hGPCR35 protein-coding 1346347 GPR112 G protein-coupled receptor 112 1580863 15203201,12679517,12435584 139378 NM_153834,AL078638,AL136167,AL161778,CH471150,AY140954,AY255581,AY882585,CR936801 NP_722576,CAM21579,CAM21580,EAW88471,EAW88472,AAN46668,AAO85093,AAW78659,Q5EGP2,Q5JU89,Q5JVK3,Q8IZF6 Hs.381354 DKFZp781E1948|PGR17|RP1-299I16 protein-coding 1314157 GPR113 G protein-coupled receptor 113 1580863 15203201,14702039,12975309,12679517,12477932,12435584,12044878 165082 NM_153835,AB065959,AB083619,AC010896,CH471053,AK122995,AY140955,AY255611,AY358172,BC043211,T92048 NP_722577,BAC45265,BAB89332,AAY14645,EAX00694,EAX00695,EAX00696,EAX00697,EAX00698,EAX00699,AAN46669,AAO85123,AAQ88539,Q53TA5,Q8IZF5,AAI48417,AAI52989 Hs.631878 FLJ16767|PGR23|hGPCR37 protein-coding 1313657 GPR114 G protein-coupled receptor 114 1580863 15203201,15489334,14702039,12975309,12679517,12477932,12435584 221188 AC004382,AC027349,CH471092,NM_153837,AK128298,AK160368,AK172765,AY140956,AY255609,AY358447,BC032401 NP_722579,EAW82936,EAW82937,EAW82938,BAD18711,BAD18748,AAN46670,AAO85121,AAQ88812,AAH32401,Q8IZF4,ABM85701 Hs.187884 PGR27 protein-coding 1315496 GPR115 G protein-coupled receptor 115 1580863 15203201,16344560,14702039,14574404,12679517,12435584,8889548 221393 NM_153838,AB065474,AL356421,CH471081,AK095395,AY140957,AY255556,BU683873,DA445316,DB313938,DQ315370 NP_722580,BAC45257,CAI15579,CAI15581,EAX04321,EAX04322,AAN46671,AAO85068,ABC41929,Q8IZF3,AAI56188,AAI56925 Hs.150131 FLJ38076|PGR18 protein-coding 1347693 GPR116 G protein-coupled receptor 116 1580863 15203201,18314133,18308334,16381901,16344560,16335952,16303743,15489336,15489334,14702039,12679517,12477932,12435584,11230166,11076863,10048485,9872452 221395 BC050087,BC066121,CR626483,DA588699,DB230925,BC036002,NM_001098518,AL096772,CH471081,AB018301,AB031421,AI796309,AK075121,AK092043,AK289503,AL050295,AL832125,AY140958,AY255552,AY498875,NM_015234 AAH50087,AAH66121,Q4G0K7,Q5TF06,Q8IZF2,CAL38391,NP_056049,NP_001091988,CAB61578,EAX04307,EAX04308,EAX04309,BAA34478,BAD83582,BAF82192,CAB43394,AAN46672,AAO85064,AAS21061 Hs.362806 DKFZp564O1923|FLJ90640|KIAA0758|KPG_001 protein-coding 736973 GPR119 G protein-coupled receptor 119 GPR119 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390,1580863 16517404,15772651,15489334,14623098,12477932,12044878 1302390 139760 NM_178471,AB065936,AB083584,AL035423,AY288416,BC095502,BC101166,BC101167,BC101168,BC126179,BC126181 NP_848566,BAC06151,BAB89297,CAI42442,AAP72125,AAH95502,AAI01167,AAI01168,AAI01169,AAI26180,AAI26182,Q8TDV5 Hs.496762 GPCR2|MGC119957|hGPCR2 protein-coding 68465 GPR12 G protein-coupled receptor 12 632854,632853,1580863 8530049,15489334,15057823,12649592,12477932,8262253 632854,632853 2835 NM_005288,AL159978,CH471075,U18548,AK290220,BC067448,BC067449,BC067450,BC067451,BC067452,BC112144,BC112146 NP_005279,CAI14692,EAX08390,AAA91630,BAF82909,AAH67448,AAH67449,AAH67450,AAH67451,AAH67452,AAI12145,AAI12147,P47775,Q6NWS6,Q6NWS7,Q6NWS8 Hs.123034 GDB:439084 GPCR12|GPCR21|MGC138349|MGC138351 g-protein coupled receptor 12 protein-coding 1317919 GPR120 G protein-coupled receptor 120 GPR120 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390 16341674,15619630,15164054,14623098,12679517,12477932 1302390 338557 CH471066,AB115768,AY255573,AY288417,BC101175,BM757151,CR620860,NM_181745,AL356214 CAH72327,EAW50069,EAW50070,BAD83368,AAO85085,AAP72126,AAI01176,NP_859529,CAH72326,Q495H1,Q5NUL3 Hs.677835 GPR129|GT01|MGC119984|PGR4 protein-coding 1317902 GPR123 G protein-coupled receptor 123 1580863 15203201,16344560,15164054,14702039,12679517,12565841,11347906 84435 NM_001083909,AL445199,CH471211,AB058731,AK090982,AK094675,AK098741,AK124728,AY181241,AY255564,BC044247,BG818167,CB045391,DA398101,EF536972 NP_001077378,EAW61312,EAW61313,BAB47457,AAO27353,AAO85076,ABQ08572,Q86SQ6,AAI46321 Hs.435183 FLJ25875|FLJ37356 protein-coding 1312494 GPR124 G protein-coupled receptor 124 1580863 15203201,16982628,15021905,14702039,12565841,12477932,12168954,11559528,10819331 25960 NM_032777,AC138356,CH471080,AB040964,AF378755,AK027296,AK074099,AL110244,AL137610,AL832524,AL832959,AY090637,AY181242,BC146774,CR603687 NP_116166,EAW63354,EAW63355,EAW63356,EAW63357,EAW63358,EAW63359,BAA96055,AAL11992,BAB55022,BAB84925,CAB53694,CAD38629,CAH56283,AAM09084,AAO27354,AAI46775,Q658W4,Q6YN44,Q96PE1 Hs.708086 DKFZp434C211|DKFZp434J0911|FLJ14390|KIAA1531|TEM5 protein-coding 1312627 GPR125 G protein-coupled receptor 125 1580863 15203201,17457313,17081983,15489334,15021905,14702039,12975309,12565841,12477932 166647 NM_145290,AC093735,AC093814,CH471069,AK027494,AK095866,AL832257,AY181243,AY358306,AY360366,BC026009,BC035645,BX416923,BX648287,CR592300 NP_660333,EAW92801,AAO27355,AAQ88673,AAR11374,AAH26009,AAH35645,Q6JN45,Q8IWK6 Hs.99195 PGR21|TEM5L protein-coding 1318390 GPR126 G protein-coupled receptor 126 15203201,17109822,16335952,16303743,15225624,15189448,15084671,14702039,12565841,12477932,8076819 57211 NM_020455,BX648315,CR602390,NM_198569,NM_001032394,NM_001032395,AL033377,AL360007,CH471051,AB183546,AB183547,AB183548,AB183549,AF216967,AK027843,AK075087,AK092519,AK122617,AL080079,AY181244,AY426673,BC036008,BC075798,BX640873,BX640971 NP_065188,Q5TGN7,Q6DHZ4,Q6F3F5,Q6F3F6,Q6F3F7,Q6F3F8,Q86SQ4,Q8IXA4,NP_940971,NP_001027566,NP_001027567,CAI20053,EAW47875,EAW47876,EAW47877,EAW47878,EAW47879,EAW47880,EAW47881,BAD27571,BAD27572,BAD27573,BAD27574,AAO13250,BAB55406,BAC11393,AAO27356,AAR88427,AAH75798,CAE45930,CAE45986 Hs.318894 APG1|DREG|PS1TP2|VIGR protein-coding 1316279 GPR128 G protein-coupled receptor 128 1580863 12565841,12477932,15203201,17081983,14702039 84873 NM_032787,AC069223,CH471052,AK027360,AK122804,AK131069,AK172769,AK172774,AY181246,BC113451,BC130388 NP_116176,EAW79818,BAB55061,BAD18752,BAD18756,AAO27358,AAI13452,AAI30389,Q14D94,Q6ZMH0,Q6ZMH4,Q96K78 Hs.334511 FLJ14454|FLJ16382|FLJ29035|MGC142011|MGC163260 protein-coding 1321937 GPR132 G protein-coupled receptor 132 This gene encodes a subfamily member of the G-protein couple receptor (GPCR) superfamily. The encoded protein is a high-affinity receptor for lysophosphatidylcholine (LPC), a major phospholipid component of oxidized low density lipoprotein. This protein may react to LPC levels at sites of inflammation to limit the expansion of tissue-infiltrating cells. A similar protein in mouse is involved in cell cycle progression. 1580863 18174230,18089568,18034171,17475884,16236715,15665078,15653487,15489334,15280385,12805023,12586833,12482833,12477932,12086852,11474113,9770487 29933 EU432121,NM_013345,AL512356,CH471061,CQ859766,AF083955,AK292142,BC004555,BC084546,BT007257 AAP35921,ABY87920,Q9UNW8,NP_037477,EAW81898,CAH25933,AAD47380,BAF84831,AAH84546 Hs.532504 G2A|MGC99642 protein-coding 1344919 GPR133 G protein-coupled receptor 133 15203201,15489334,14702039,12679517,12477932 283383 NM_198827,AC073862,AC078925,AC126564,AK131538,AL162032,AY255587,AY278561,AY532280,BC047951,BC112307,BC112309,BX649116 NP_942122,BAD18674,CAB82385,AAO85099,AAP35063,AAS37682,AAI12308,AAI12310,Q6QNK2,Q9NSM3 Hs.656754 DKFZp434B1272|FLJ16770|MGC138512|MGC138514|PGR25 protein-coding 736248 GPR135 G protein-coupled receptor 135 1302390,1580863 12679517,12477932,1374385,15489334,14623098 1302390 64582 NM_022571,AB065563,AL159140,CH471061,AY255588,AY288418,BC032831,BX094623,M76676 AAB97766,Q14968,Q8IZ08,ABM84287,ABM87679,NP_072093,BAC05800,EAW80751,AAO85100,AAP72127,AAH32831 Hs.647573 HUMNPIIY20 protein-coding 1604608 GPR137 G protein-coupled receptor 137 10873569,15489334,14702039,12477932 56834 NM_020155,AP001453,CH471076,AJ250392,AK056094,BC020396,BC029297,BC033920,BC035002 NP_064540,EAW74237,EAW74238,EAW74239,EAW74240,CAB96540,BAB71093,AAH33920,AAH35002,Q96N19,Q9NQC5 Hs.523763 C11orf4|GPR137A|TM7SF1L1 protein-coding 1316484 GPR137B G protein-coupled receptor 137B 1580863 9521871,15489334,12477932,12446740,9373149,8125298 7107 NM_003272,AL122018,AL139162,CH471098,AF027826,AK223632,AY242135,BC012100,CR541770,CR602894,CR608564,CR610907,CR614154 NP_003263,CAI22684,CAI23523,CAI23524,CAI23528,EAW70043,EAW70044,AAC39669,BAD97352,AAO92302,AAH12100,CAG46569,O60478,Q5TAF0,Q5TAF1 Hs.498160 GDB:9314977 TM7SF1 transmembrane 7 superfamily member 1 (upregulated in kidney) protein-coding 1603253 GPR137C G protein-coupled receptor 137C 16341674 283554 XM_290615,XM_941182,NM_001099652,AL133453,AL157971,CH471078,AK123953,AL834372,AW470753,AY255590,BM842962,BX647179 XP_290615,XP_946275,NP_001093122,EAW65648,CAD39035,AAO85102,CAH10564,Q6AWC7,Q86SM2,Q8N3F9 Hs.416214 DKFZp762F0713|TM7SF1L2 protein-coding 1323337 GPR139 G protein-coupled receptor 139 15845401,15777626,12679517,12044878,11863363 124274 NM_001002911,AC021089,AJ303165,CH471186,AB196529,AK291384,AY255545,AY635179,BC137237,BC137238 NP_001002911,CAC33085,EAW50306,BAD97440,BAF84073,AAO85057,AAT65818,AAI37238,AAI37239,Q6DWJ6,Q9BYT4 Hs.446875 GPRg1|PGR3 protein-coding 736698 GPR141 G protein-coupled receptor 141 GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390 15489334,14623098,12690205,12679517,12477932 1302390 353345 NM_181791,AC083865,CH236951,CH471073,AY255538,AY288420,BC120951,BC120952 NP_861456,EAL23980,EAW94082,AAO85050,AAP72129,AAI20952,AAI20953,Q7Z602 Hs.688230 PGR13 protein-coding 1352818 GPR142 G protein-coupled receptor 142 GPR142 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 1302390,1580863 15845401,14623098,12679517 1302390 350383 AB196530,AY255622,AY288421,NM_181790,AB065914,AC055863,AC103809,CH471099 EAW89157,EAW89158,BAD97441,AAO85134,AAP72130,Q7Z601,Q8NGB0,AAI52735,AAI52988,NP_861455,BAC06129 Hs.574368 PGR2 protein-coding 1353035 GPR143 G protein-coupled receptor 143 Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes. 1580863 12643545,12538723,12477932,11793467,11214907,11115845,10094567,9887374,9529334,8634705,8230160,2573275,10471510,7647783,17960122,17822861,17516023,17081065,16754205,16646960,12868035 4935 NM_000273,AC003036,AC090481,CH471074,BC015657,BC068977,Z48804 NP_000264,EAW98773,AAH68977,CAA88742,P51810,Q6NTI7 Hs.74124 OA1 protein-coding 1345193 GPR143P G protein-coupled receptor 143 pseudogene 12815422 352896 NG_002814,AC012068 OA1P pseudo 1350453 GPR144 G protein-coupled receptor 144 15203201,15164053,14702039,12679517 347088 Q7Z7M1 AY278562,EF107715,EF107716,EF107717,EF107718,NM_182611,AB065601,AL137846,CH471090,AK022431,AY255620 AAP35064,ABK96967,ABK96968,ABK96969,ABK96970,Q7Z7M1,NP_872417,BAC05829,CAI10884,EAW87586,EAW87587,EAW87588,EAW87589,EAW87590,AAO85132 Hs.454099 PGR24 protein-coding 1345247 GPR146 G protein-coupled receptor 146 1580863 15777626,15489334,12690205,12679517,12477932 115330 NM_138445,AC073957,CH236965,CH471144,AY255535,BC014241 NP_612454,EAL23710,EAW87191,AAO85047,AAH14241,Q96CH1,ABM83585,ABM86825 Hs.585007,Hs.656731 PGR8 protein-coding 1347773 GPR148 G protein-coupled receptor 148 15777626,15688318,15489334,12679517,12477932,12044878 344561 NM_207364,AB083589,AC140481,CH471250,AY255532,AY280965,AY569570,BC105013,BC105041 NP_997247,BAB89302,EAW51274,AAO85044,AAP34196,AAS76892,AAI05014,AAI05042,Q8TDV2 Hs.452574 BTR|PGR6 protein-coding 1346454 GPR149 G protein-coupled receptor 149 1580863 12679517 344758 NM_001038705,AC092946,CH471052,AY255534,DQ318360 NP_001033794,EAW78760,AAO85046,ABC49857,Q2MKA6,Q86SP6,AAI56850 Hs.688231 IEDA|PGR10 protein-coding 1315368 GPR15 G protein-coupled receptor 15 1580863 8838812,15650194,15489334,12566994,12555203,12477932,11696454,10985245,9236192,9230441 2838 NM_005290,AC021660,CH471052,U34806,BC069437,BC101779,BC101781 NP_005281,EAW79855,AAC50826,AAH69437,AAI01780,AAI01782,P49685 Hs.563128 GDB:624476 MGC126828|MGC126830 protein-coding 1343055 GPR150 G protein-coupled receptor 150 1580863 15777626,12679517,12477932 285601 NM_199243,AB065678,AC008547,CH471084,BC030197 NP_954713,BAC05903,EAW96041,AAH30197,Q05C22,Q8NGU9,AAI56089 Hs.143315 PGR11 protein-coding 1350857 GPR151 G protein-coupled receptor 151 1580863 15111018,12679517,12044878 134391 NM_194251,AB065674,AB083592,AC011375,CH471062,AY255557,AY351676 NP_919227,BAC05899,BAB89305,EAW61839,AAO85069,AAQ62567,Q8TDV0,AAI40431,AAI56568 Hs.483732 GALR4|GALRL|GPCR|PGR7 protein-coding 1354216 GPR152 G protein-coupled receptor 152 1580863 15777626,15489334,12679517,12477932,12044878 390212 NM_206997,AB065853,AB083620,AP003419,AY255600,AY569571,BC119779,BC122869 NP_996880,BAC06071,BAB89333,AAO85112,AAS76893,AAI19780,AAI22870,Q8TDT2 Hs.567997 MGC148162|PGR5 protein-coding 1319513 GPR153 G protein-coupled receptor 153 16710414,15777626,15489334,12679517,12477932 387509 NM_207370,AL031847,CH471130,AY255529,BC068275,CR613469,CR627473 CAH10674,Q6NV75,NP_997253,CAI19434,EAW71526,AAO85041,AAH68275 Hs.531581 DKFZp762B2210|PGR1 protein-coding 1319348 GPR155 G protein-coupled receptor 155 1580863 16381901,15815621,15489336,15489334,14702039,12679517,12477932,11230166,11076863 151556 Q0JTS4,Q49AJ5,Q7Z3F1 AK096665,AL834154,AY255528,BC028730,BC035037,BC036681,BI548910,BX537947,NM_152529,NM_001033045,AC010894,AC018470,CH471058,AK056381,AK091200 BAC03609,BAC04835,CAH10683,AAO85040,AAH28730,AAH35037,AAH36681,CAD97915,Q0JTS4,Q49AJ5,Q7Z3F1,CAL38088,ABM82655,ABM85832,NP_689742,NP_001028217,AAY14707,AAY24218,EAX11137,EAX11138,EAX11139,BAB71170 Hs.516604 DEP.7|DEPDC3|FLJ31819|FLJ39346|PGR22 protein-coding 736790 GPR156 G protein-coupled receptor 156 G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM] 1299444,1580863 15489334,12679517,12591167,12477932 1299444 165829 NM_153002,AC092897,CH471052,AB209362,AF488739,AY255565,BC113701 NP_694547,EAW79530,BAD92599,AAN03795,AAO85077,AAI13702,Q59FU7,Q8NFN8 Hs.333358 GABABL|MGC142261|PGR28 gabab-related g-protein coupled receptor protein-coding 1322370 GPR157 G protein-coupled receptor 157 16710414,15489334,14702039,12477932,10574461 80045 NM_024980,AL158048,AK022194,AK026883,AK292888,AY768808,BC018691 NP_079256,CAM12842,BAB13982,BAF85577,AAV35060,AAH18691,Q5UAW9,AAI56510,ABM83730,ABM87050 Hs.632367 FLJ12132 protein-coding 1314117 GPR158 G protein-coupled receptor 158 16229975,15164054,14702039,12168954,10574461 57512 NM_020752,AL139821,AL161654,AL354976,AL355587,AB032962,AK095120,AY528411 NP_065803,CAI16833,CAI16106,BAA86450,AAS18315,Q5T848,AAI56399,AAI57125 Hs.499108 FLJ37801|KIAA1136|RP11-59G22.1 protein-coding 1345785 GPR160 G protein-coupled receptor 160 1580863 15489334,12477932,12044878,11466977 26996 NM_014373,AB083583,AC008040,CH471052,AJ249248,BC000181,CR595782 NP_055188,BAB89296,EAW78524,EAW78525,EAW78526,CAB55314,AAH00181,Q9UJ42 Hs.231320 GPCR1|GPCR150 protein-coding 1607069 GPR161 G protein-coupled receptor 161 16710414,15489334,14702039,12477932,11987825,11959142,9932290 23432 NM_153832,NM_007369,AL033532,CH471067,AF091890,AK056040,AK091271,AK122656,AY275468,BC028163 NP_722561,NP_031395,CAI22622,CAI22623,EAW90818,EAW90819,AAC61598,BAC03624,AAP32300,AAH28163,Q5TGK2,Q8N247,Q8N6U8,ABM84295,ABM87688 Hs.271809,Hs.632453 FLJ33952|RE2 protein-coding 1603661 GPR162 G protein-coupled receptor 162 This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. 15777626,15489334,12477932,9074930,8723724 27239 NM_019858,NM_014449,CH471116,U47924,AB209836,BC002353,BC007918,BC080585,CR610872,U47925,U47928,U47929 NP_062832,NP_055264,EAW88735,EAW88736,EAW88737,AAB51310,AAB51311,BAD93073,AAH02353,AAH07918,AAH80585,AAC50463,AAC50466,AAC50467,Q13513,Q16538,Q96I00 Hs.631654 A-2|GRCA protein-coding 1603814 GPR165P G protein-coupled receptor 165 pseudogene 15777626 392486 NG_005303,AL592049,AX229902 PGR15 pseudo 1606358 GPR166P G protein-coupled receptor 166 pseudogene 12044878 442206 NG_005635,AB083591 BAB89304,Q8TDV1 GPCR|PGR9 pseudo 1347471 GPR17 G protein-coupled receptor 17 1580863 16189514,8558062,16990797,15489334,12477932,9523551,9092554 2840 NM_005291,AC010976,AC074114,CH471103,U33447,AK126849,BC013202,BC031653,BC039595,BX538082,Y12546,Z94154,Z94155 Q13304,Q7Z369,ABM83379,ABM86591,NP_005282,EAW95337,AAB16746,AAH31653,CAD98006,CAA73144,CAB08107,CAB08108 Hs.46453,Hs.688940 GDB:686316 DKFZp686M18273 protein-coding 1353149 GPR171 G protein-coupled receptor 171 737633,1580863 9370294,12477932,11524702,7566098 737633 29909 NM_013308,AC078816,AF411849,CH471052,AA353758,AF002986,BC036815 NP_037440,AAL47763,EAW78811,EAW78812,AAC51846,AAH36815,O14626,Q8IV06,ABM81867,ABM85027 Hs.549152 H963 protein-coding 1349767 GPR172A G protein-coupled receptor 172A GPCR41 and GPCR42 (MIM 607883) act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).[supplied by OMIM] 737633,1580863 15489334,14702039,12740431,12477932,12044878 737633 79581 NM_024531,AB083623,AF205589,CH471162,AK021918,AK027888,AY070774,BC002917,BQ772207,BQ888729,BU603018,CR591091,CR592004,CR598433,CR606512,CR614911,CR617610,CR625605 NP_078807,BAB89336,EAW82115,EAW82116,BAB13936,BAB55433,AAL59882,AAH02917,Q8TDT0,Q9HAB3 Hs.6459 D15Ertd747e|GPCR|GPCR41|PAR1 protein-coding 1346677 GPR172B G protein-coupled receptor 172B GPCR41 (MIM 607882) and GPCR42 act as receptors for porcine endogenous retrovirus subgroup A (PERV-A).[supplied by OMIM] 737633,1580863 12477932,12044878,12740431,16344560,15489334,14702039 737633 55065 NM_001104577,NM_017986,AB083624,AC012146,CH471108,AK000922,AK023570,AK123566,AY070775,BC060810,BC092473,BU752646,CR617996,DA383729 NP_001098047,NP_060456,BAB89337,EAW90363,EAW90364,EAW90365,BAA91427,AAL59883,AAH60810,AAH92473,Q8TDS9,Q9NWF4 Hs.632247 FLJ10060|GPCR|GPCR42|PAR2 protein-coding 1347737 GPR173 G protein-coupled receptor 173 70648,1580863 10833454,15489334,12477932 70648 54328 NM_018969,BX322635,CH471154,AB040801,BC009861 NP_061842,EAW93142,BAA96647,AAH09861,Q5HYQ4,Q9NS66,ABM84202,ABM87606 Hs.661815 SREB3 g-protein coupled receptor 173 protein-coding 1345699 GPR174 G protein-coupled receptor 174 1580863 15772651,15489334,12477932,12044878 84636 NM_032553,XM_001715858,AB083599,AL590222,AY242133,CH471104,AF345567,BC104922,BC104924 NP_115942,XP_001715910,BAB89312,CAD13458,AAO92300,EAW98593,AAK29070,AAI04923,AAI04925,Q9BXC1 Hs.326713 FKSG79 protein-coding 1354338 GPR175 G protein-coupled receptor 175 737633,1580863 10342878,16806233,15489334,14702039,12477932 737633 131601 AC084035,CH471052,AB037108,AF289568,AK056759,BC017058,BC050711,CR593977,CR599731,CR606702,CR612256,CR614598,CR617620,NM_016372,CR617714,CR618881,CR621499,CR623083 NP_057456,EAW79340,EAW79341,EAW79342,EAW79343,EAW79344,BAA89782,AAL55752,AAH17058,AAH50711,Q86W33 Hs.6418 FLJ32197|TPRA40 protein-coding 737562 GPR176 G protein-coupled receptor 176 7893747,15489334,12477932 11245 NM_007223,AC012377,AC023908,CH471125,BC067106,D38449 NP_009154,EAW92385,EAW92386,AAH67106,BAA07481,Q14439 Hs.37196 GPR|Gm1012 protein-coding 1605334 GPR177 G protein-coupled receptor 177 16710414,16678095,16303743,15489334,14702039,12975309,12761501,12477932 79971 AW137622,AY359035,BC007211,BC110826,BC137109,BC137113,BG701224,BX538320,BX648748,CR591378,CR602492,CR624611,DQ323735,NM_001002292,NM_024911,AL157407,AL513284,CH471059,CQ782961,AB097018,AI217373,AK026744,AK074583,AK074984 AAQ89394,AAH07211,AAI10827,AAI37110,AAI37114,CAD98094,ABD58927,Q5JRS7,Q5T9L3,Q7Z430,BAC11333,NP_001002292,NP_079187,CAI21993,CAI15023,CAI15024,CAI15025,CAI15026,CAI15027,EAX06479,EAX06480,EAX06481,CAF86190,BAC77371,BAB15540,BAC11072,Q8N2N3,Q96IV8,Q9H5T0 Hs.647659 C1orf139|EVI|FLJ23091|MGC131760|MGC14878|MRP|WLS protein-coding 1601901 GPR179 G protein-coupled receptor 179 16625196,16229975 440435 NM_001004334,AC115992,AY584611 NP_001004334,AAS91740,Q6PRD1 Hs.462915 GPR158L1 protein-coding 1344300 GPR18 G protein-coupled receptor 18 1580863 9205118,16844083,15489334,15057823,12477932,11991713 2841 NM_001098200,NM_005292,AL160155,CH471085,L42324,AA825595,AF261135,AF339781,BC008569,BC050646,BC066927,BI770379,BT009907 NP_001091670,NP_005283,CAI14306,CAI14307,EAX09017,AAB65819,AAG44671,AAH08569,AAH50646,AAH66927,AAP88909,Q14330,Q5JUH9 Hs.631765 GDB:700751 protein-coding 1604518 GPR180 G protein-coupled receptor 180 This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. 15489334,15057823,14702039,12730718,12538434,12477932,11991713 160897 NM_180989,AL359708,CH471085,AI016274,AK024059,AK126794,AK289850,BC033906,BC052243,BG112926,BI856811,BX348762,CA435391,CD110068,AL832739 NP_851320,CAI12412,EAX08942,EAX08943,EAX08944,BAC86697,BAF82539,AAH33906,AAH52243,Q5JPG5,Q6PII1,Q6ZT96,Q86V85,CAI46124 Hs.657472 ITR protein-coding 736455 GPR182 G protein-coupled receptor 182 Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. 704371,1580863,1625768 9367907,17939601,15489334,14720432,12646214,12477932,12419522,11956648,11883938,11754983,11728267,11712085,10449538,9535752,9389548,9016306,7621913,11591721 704371,1625768 11318 NM_007264,AC026120,AY268434,CH471054,Y15287,BC034761,Y13583 NP_009195,AAP23201,EAW96970,CAC79687,AAH34761,CAA73910,O15218,Q6LAJ3,ABM81779,ABM87805 Hs.483909 GDB:9957953 7TMR|ADMR|AM-R|AMR|G10D|MGC34399|gamrh|hrhAMR protein-coding 1344105 GPR19 G protein-coupled receptor 19 1580863 8830667,16303743,10480372 2842 NM_006143,AC008115,CH471094,CQ782654,U55312,U64871,AK074729,CR456832 NP_006134,EAW96271,CAF85902,AAB00316,AAB49751,CAG33113,Q15760,Q6IBH2 Hs.657862 GDB:3770734 protein-coding 733771 GPR20 G protein-coupled receptor 20 1580863 9073069,18347022,12477932 2843 NM_005293,AC100803,CH471060,U66579,AA601037,AB209066,BC117409,DR006873 NP_005284,EAW92227,AAC51302,BAD92303,AAI17410,Q17R96,Q59GP3,Q99678 Hs.188859 GDB:3789425 protein-coding 1351876 GPR21 G protein-coupled receptor 21 1580863 9073069,15489334,12477932 2844 NM_005294,AC007066,CH471090,U66580,BC066885,BC066886,BC067532,BC067533,BC067534 NP_005285,EAW87559,AAC51303,AAH66885,AAH66886,AAH67532,AAH67533,AAH67534,Q6NWM5,Q99679 Hs.656648 GDB:3789426 protein-coding 1321987 GPR22 G protein-coupled receptor 22 This gene is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. 1580863 9073069,16344560,15955843,14702039,12853948,12690205,12477932 2845 AC002381,CH236947,CH471070,U66581,NM_005295,AB209270,AK122621,BC045823,BC107128,BX647649,DA519131 NP_005286,AAB63815,EAL24394,EAW83398,AAC51304,BAD92507,AAI07129,Q3KNS9,Q59G39,Q99680 Hs.657277 GDB:3789427 MGC129847 protein-coding 1323161 GPR25 G protein-coupled receptor 25 1580863 9020062,17386346,15489334,12477932 2848 NM_005298,AC099756,CH471067,U91939,BC126386,BC126388 NP_005289,EAW91322,AAB50155,AAI26387,AAI26389,O00155 Hs.534316 GDB:4897977 protein-coding 736769 GPR26 G protein-coupled receptor 26 1580863 11854302,15489334,12477932,10684976,8401585 2849 NM_153442,AC009987,CH471066,AJ505757,BC112011,BC113462 NP_703143,EAW49281,EAW49282,CAD44281,AAI12012,AAI13463,Q8NDV2 Hs.12751 GDB:5842960 MGC138216 protein-coding 733557 GPR27 G protein-coupled receptor 27 70648,1580863 10833454 70648 2850 NM_018971,AC096970,CH471055,AB040799 NP_061844,EAW65505,BAA96645,Q9NS67 Hs.591653 GDB:5842961 SREB1 protein-coding 1350754 GPR3 G protein-coupled receptor 3 1580863 7639700,17953967,16710414,15489334,12649592,12477932,8530049,7851889,7832990,7698767 2827 NM_005281,AL096774,CH471059,L32831,U13668,U18550,X83956,AK291185,BC032702 NP_005272,CAC18517,EAX07754,AAA73560,AAA64594,AAB60402,CAA58787,BAF83874,AAH32702,P46089,ABM81758,ABM84913 Hs.66542 GDB:371695 ACCA protein-coding 1313066 GPR31 G protein-coupled receptor 31 1580863 9205127,14574404,12477932 2853 NM_005299,AL121935,CH471051,U65402,BC095537,CD246167 NP_005290,CAB99329,EAW47505,AAC51375,AAH95537,O00270,Q4VBL3 Hs.248124 GDB:6053730 protein-coding 1343074 GPR32 G protein-coupled receptor 32 1580863 9653656,15489334,12477932 2854 AC010325,AF045764,CH471135,BC067453,BC067454,BC095544,NM_001506 AAC39801,EAW71898,AAH67453,AAH67454,AAH95544,O75388,NP_001497 Hs.515555 GDB:6268477 protein-coding 1343447 GPR32P G protein-coupled receptor 32, pseudogene 9653656 2855 NG_001131,AC010325,AF045765 GDB:9859362 GPR32P1 pseudo 1351733 GPR33 G protein-coupled receptor 33 (gene/pseudogene) GPR33 is related to chemokine and chemoattractant receptors that control leukocyte chemotaxis. The most common GPR33 allele in humans contains a premature stop codon (Rompler et al., 2005 [PubMed 15987686]).[supplied by OMIM] 15987686,9653656 2856 NG_001132,AF045767,AL163973,AY494000 AAR98754,Q49SQ1 GDB:6268478 G protein-coupled receptor 33|g protein-coupled receptor 33, pseudogene pseudo 1349710 GPR34 G protein-coupled receptor 34 G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM] 1580863 10036181,16341674,16338117,16303743,15489334,14702039,12477932,10982042,10395919,8889549 2857 NM_001097579,CR626343,DQ106398,DQ106399,DQ106400,DQ106401,DQ106402,H03136,N40174,CR609581,NM_005300,AF118670,AL627402,CH471141,AA130392,AF039686,AK027780,AK074627,AK075217,AK122945,AW292321,BC020678,BM798913,CR597947,CR603494 AAZ99227,AAZ99228,AAZ99229,AAZ99230,AAZ99231,Q3SAH0,Q3SAH2,Q5VT14,Q9UPC5,ABM84024,ABM87369,NP_001091048,NP_005291,AAD17248,EAW59396,EAW59397,AAD50531,BAB55362,AAH20678 Hs.495989 GDB:6268481 protein-coding 1344931 GPR34P G protein-coupled receptor 34 pseudogene 2858 GDB:6268484 1319732 GPR35 G protein-coupled receptor 35 1580863 9479505,18271057,17940199,15489334,14965362,12477932,11017071,947955 2859 NM_005301,AC124862,AF027957,AY275467,CH471063,AF089087,AK131540,AK290256,BC095500,BC117453,BC117455,CR541765 NP_005292,AAX88945,AAC52028,AAP32299,EAW71209,EAW71210,AAG17965,BAD18676,BAF82945,AAH95500,AAI17454,AAI17456,CAG46564,Q17R58,Q4ZFV2,Q6FHI8,Q6ZMP9,Q9HC97 Hs.112218,Hs.239891 GDB:6268480 protein-coding 1347063 GPR36 G protein-coupled receptor 36 2860 GDB:6268482 735262 GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) 1580863 9144577,17059562,16539653,15489334,14532270,12853948,12690205,12670421,12477932,12150907,11439185,9526070,9339362 2861 NM_005302,AC004925,CH236947,CH471070,Y12476,AF017262,AF502281,BC040007 NP_005293,AAD08853,EAL24325,EAW83613,CAA73080,AAB70008,AAM18625,AAH40007,O15354 Hs.406094 GDB:6268632 EDNRBL|PAELR|hET(B)R-LP protein-coding 1606828 GPR37L1 G protein-coupled receptor 37 like 1 9539149,15489334,12477932,9373149,8125298 9283 NM_004767,AJ310210,AL592300,AK222639,BC050334,Y16280 NP_004758,CAI13106,BAD96359,AAH50334,CAA76153,O60883,Q5SXP7 Hs.132049 GDB:9955613 ET(B)R-LP-2|ETBR-LP-2 protein-coding 1315539 GPR39 G protein-coupled receptor 39 1580863 9441746,18180304,17885920,17488974,17054911,16959833,16344560,15815621,15489334,15383539,14702039,12477932,8889548 2863 NM_001508,AC079773,AC098800,AC104405,CH471058,CS323625,AF034633,AI459805,AK122643,BC125046,BC125047,BK005609,BM981455,DA596795,DA636860,DA653793,EU076432 NP_001499,AAX93106,AAY24154,EAX11678,EAX11679,EAX11680,CAK96158,AAC26082,AAI25047,AAI25048,DAA06055,ABU53902,O43194,Q53RU7 Hs.432395,Hs.706894 GDB:6860468 MGC149541 protein-coding 1323148 GPR4 G protein-coupled receptor 4 1580863 7498459,8595909,17462861,17437524,17364894,16461426,15857892,15489334,15221007,14567679,12955148,12805023,12477932,11535583,7832990 2828 NM_005282,AC011480,CH471126,L36148,U21051,AK290698,BC038450,BC067535,BC067536,EU432116,U35399 NP_005273,EAW57368,AAA63180,AAA98457,BAF83387,AAH67535,AAH67536,ABY87915,AAA79061,P46093,Q6NWM4 Hs.17170 GDB:371710 protein-coding 1352673 GPR42 G protein-coupled receptor 42 1580863 9344866,15684720,15057824,12496283 2866 NM_005305,AC002511,AF024689 NP_005296,AAB67885,AAB86712,O15529 Hs.533926 GDB:7087528 FFAR1L|GPR41L protein-coding 1323730 GPR44 G protein-coupled receptor 44 G protein-coupled receptors (GPCRs), such as GPR44, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM] 1580863 11208866,9973380,10036181,17910949,17878378,17714552,17541272,17016057,16378605,16030019,15789622,15507393,15489334,15345705,15065763,14668348,12477932,12230502,11801628 11251 NM_004778,AF118265,AP000777,CH471076,AB008535,AF144308,AY507142,BC096841 NP_004769,AAD21055,EAW73902,BAA74518,AAD34539,AAR92484,AAH96841,Q9Y5Y4 Hs.299567 GDB:9957552 CD294|CRTH2 protein-coding 1314767 GPR45 G protein-coupled receptor 45 This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. 10036181,15815621,15489334,12477932,11027575,11027574 11250 NM_007227,AC012360,AF118266,CH471127,BC066879,BC066880,BC067455,U92642 NP_009158,AAY15009,AAD21056,EAX01766,AAH66879,AAH66880,AAH67455,AAB93884,O43898,Q9Y5Y3 Hs.590903 GDB:9957550 PSP24|PSP24(ALPHA)|PSP24A protein-coding 1346636 GPR50 G protein-coupled receptor 50 1580863 8647286,18400093,18075476,16778767,16436372,15452587,15342556,12767050,12477932,9933574 9248 AF003625,CH471169,AY114101,AY114102,BC103696,BC105683,BC105684,BP245442,EU432118,U52219,NM_004224 NP_004215,EAW99402,AAM78368,AAM78369,AAI03697,AAI05684,AAI05685,ABY87917,AAC50614,Q0VGG3,Q13585,Q3ZAR0,Q7Z581,Q7Z582 Hs.567390 GDB:3763330 H9|MGC125342|Mel1c protein-coding 1353875 GPR52 G protein-coupled receptor 52 Members of the G protein-coupled receptor (GPR) family play important roles in signal transduction from the external environment to the inside of the cell.[supplied by OMIM] 1580863 9931487,16710414,16344560,15489334,12477932 9293 BC067459,BC067460,BC069460,BC095532,DA174341,DB168074,NM_005684,AF096784,AL022171,CH471067,BC067456,BC067457,BC067458 AAH67459,AAH67460,AAH69460,AAH95532,Q9Y2T5,NP_005675,AAD22409,CAA18160,EAW90976,AAH67456,AAH67457,AAH67458 Hs.673850 GDB:9955643 MGC111751 protein-coding 1343401 GPR53P G protein-coupled receptor 53, pseudogene 9931487 9292 NG_001217,AF096785,AL662826,AL662860,BX000688 GDB:9955639 PsiGPR53|dJ271M21.8 pseudo 1348516 GPR55 G protein-coupled receptor 55 Members of the G protein-coupled receptor (GPR) family, such as GPR55, play important roles in signal transduction from the external environment to the inside of the cell (Sawzdargo et al., 1999 [PubMed 9931487]).[supplied by OMIM] 9931487,18263732,17876302,17765871,15489334,12477932 9290 NM_005683,AC012507,AF096786,CH471063,AK292223,BC032694,CR541776 NP_005674,AAD22410,EAW70939,EAW70940,BAF84912,AAH32694,CAG46575,Q9Y2T6,ABM81807,ABM84961 Hs.114545 GDB:9955631 protein-coding 1352005 GPR56 G protein-coupled receptor 56 708336 10049584,15004227,15044805,15674329,18042463,17314516,16757564,16303743,15916848,15489334,15340161,12975309,12477932,11845408,10100861 708336 9289 BC013207,BE893273,BT007311,CR936747,EU432119,NM_201525,NM_201524,AB065909,AC018552,CH471092,AF106858,AJ011001,AK074399,AK075270,AK075555,AK131550,AL137591,AY358400,BC008770,NM_005682 AAH08770,AAP35975,ABY87918,Q6ZMP1,Q9Y653,NP_005673,NP_958933,NP_958932,BAC06124,EAW82939,EAW82940,EAW82941,EAW82942,EAW82943,EAW82944,EAW82945,AAD30545,CAB37294,BAD18684,AAQ88766 Hs.513633 GDB:9955626 BFPP|DKFZp781L1398|TM7LN4|TM7XN1 protein-coding 737528 GPR6 G protein-coupled receptor 6 632853,1580863 7832990,15489334,14574404,12649592,12477932,8530049 632853 2830 NM_005284,AL591076,CH471051,L36150,U18549,BC043414,BC117298,BC126301,CF147782 NP_005275,CAI17125,EAW48331,AAA63181,AAA91631,AAH43414,AAI17299,AAI26302,P46095 Hs.46332 GDB:371713 protein-coding 1320923 GPR61 G protein-coupled receptor 61 This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. 1580863 16710414,16344560,15615699,15489334,12477932,12044878,11690637,11165367 83873 NM_031936,AB083585,AL355145,AL355310,CH471122,AF258342,AF317652,AK290027,BC067464,BC095507,BX491451,DA176879,AB209096 NP_114142,BAB89298,CAI19302,EAW56392,AAK97826,AAK12637,BAF82716,AAH67464,AAH95507,Q4VBN0,Q59GL3,Q9BZJ8,BAD92333 Hs.514690 GDB:11506099 BALGR|GPCR3 protein-coding 1351718 GPR62 G protein-coupled receptor 62 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 12477932,12044878,11165367 118442 AB083590,AC115284,AF317653,NM_080865,AB032600,AI951672,BC026357,CH471055 NP_543141,BAB89303,AAK12638,EAW65164,BAD83591,AAH26357,Q5KU27,Q8TAM0,Q9BZJ7 Hs.232213 GDB:11506101 GPCR8|KPG_005|MGC26943 protein-coding 1315091 GPR63 G protein-coupled receptor 63 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15489334,14574404,12618218,12477932,11165367,11027575,11027574 81491 NM_030784,AF317654,AL033379,AL159985,CH471051,AB030566,AB209347,AK289839,BC067465,BC067466,BC067467,BC067468,BC067469 NP_110411,AAK12639,CAB55871,EAW48502,BAB20031,BAD92584,BAF82528,AAH67465,AAH67466,AAH67467,AAH67468,AAH67469,Q59FW2,Q6NWR7,Q6NWR8,Q6NWR9,Q9BZJ6 Hs.632612 GDB:11501973 PSP24(beta)|PSP24B protein-coding 735317 GPR64 G protein-coupled receptor 64 9150425,17081983,12477932,12420295,9739419 10149 NM_005756,NM_001079860,NM_001079858,AL732509,AL732578,CH471074,CS223389,AF538954,AF539455,AF539456,AK090402,AK291012,AY143364,AY143365,AY143366,AY143367,NM_001079859,AY148343,BC063315,BC099901,BC113978,BC113979,X81892 NP_001073328,NP_005747,NP_001073329,NP_001073327,EAW98952,EAW98953,EAW98954,EAW98955,EAW98956,EAW98957,CAJ46934,AAN33056,AAN33064,AAN33065,BAC03383,BAF83701,AAN38971,AAN38972,AAN38973,AAN38974,AAN75702,AAH99901,AAI13979,AAI13980,CAA57479,Q14CE0,Q14CE1,Q499H0,Q5JPQ2,Q5JPQ3,Q5JPQ4,Q5JPQ5,Q5JPQ6,Q8IZP9,Q8NF77 Hs.146978 GDB:9955308 FLJ00282|HE6|MGC104454|MGC138738|MGC138739|TM7LN2 protein-coding 1323495 GPR65 G protein-coupled receptor 65 9655242,15665078,15618224,15489334,15326175,15221007,12508121,12477932,11309421 8477 NM_003608,AL157955,CH471061,U95218,BC035633,BC071715 NP_003599,EAW81365,AAC31794,AAH35633,AAH71715,Q8IYL9,ABM81760,ABM84915 Hs.513440 GDB:9955236 TDAG8|hTDAG8 protein-coding 1319965 GPR68 G protein-coupled receptor 68 1580863 8661159,7498459,17728215,16087674,15665078,15489334,15146197,14567679,12955148,12477932,12069813,10806476,8889548 8111 NM_003485,AL135818,CH471061,U48405,AY615372,BC067470,BC067471,BC067472,BC069592,BC096071,BC096072,BC096073,BC096074,BC098567,BC128536,BM723705,CN287036,U35398 NP_003476,EAW81447,EAW81448,AAC50596,AAT38917,AAH67470,AAH67471,AAH67472,AAH69592,AAH96071,AAH96072,AAH96073,AAH96074,AAH98567,AAI28537,AAA79060,Q15743,Q4VBB4,Q6NWR5,Q6NWR6 Hs.8882 GDB:9837381 MGC111379|MGC156983|OGR1 protein-coding 1343209 GPR75 G protein-coupled receptor 75 GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM] 1580863 10381362,15815621,15489334,12477932 10936 NM_006794,AC008068,AF101472,CH471053,AF072693,AK314885,BC067475,BC067476 NP_006785,AAY15018,AAD22770,EAX00162,AAD19849,BAG37399,AAH67475,AAH67476,O95800 Hs.696596 GDB:9958615 GPR-chr2|WI-31133 protein-coding 1354173 GPR77 G protein-coupled receptor 77 The anaphylatoxins C3a (see MIM 120700), C4a (see MIM 120810), and C5a are cationic fragments generated during the complement cascade that participate in host defense. In the case of inappropriate complement activation, anaphylatoxins may be involved in autoimmunity and sepsis. C5L2 is coexpressed with the C5a receptor, C5AR (C5R1; MIM 113995), on polymorphonuclear neutrophils and may modulate C5AR activity (Gerard et al., 2005 [PubMed 16204243]).[supplied by OMIM] 1580863 17158873,17068344,16204243,15833747,15634936,15489334,14570896,12540846,12477932,11773063,11165367,11090875 27202 BC067480,NM_018485,AC008754,AC099491,AF317655,AY268430,CH471126,CS173027,AB038237,BC067477,BC067478,BC067479 AAH67480,Q6NWQ8,Q6NWQ9,Q6NWR0,Q9P296,NP_060955,AAK12640,AAP23197,EAW57472,CAJ33695,BAA95414,AAH67477,AAH67478,AAH67479 Hs.534412 GDB:10795897 C5L2|GPF77 protein-coding 1351563 GPR78 G protein-coupled receptor 78 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 16389273,15489334,12975309,12477932,11574155,10708769 27201 NM_080819,AB065673,AC105345,CH471131,AF411107,AK128807,AY359107,BC057778,BC069343,BC069813 NP_543009,BAC05898,EAW82336,AAL26479,AAQ89465,AAH57778,AAH69343,AAH69813,Q96P69 Hs.350588 GDB:10795898 protein-coding 1350376 GPR79 G protein-coupled receptor 79 pseudogene 11574155 27200 NG_001272,AC092999,AF411108 GDB:10795899 pseudo 1316071 GPR81 G protein-coupled receptor 81 G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15489334,15177553,12477932,12044878,11574155 27198 AB065866,AB083631,AC026333,AF411110,CH471054,DQ157221,AF345568,AF385431,AF385432,AK289557,AY507143,BC066881,BC066882,BC066883,NM_032554,BC067484,BC095506 NP_115943,BAC06084,BAB89344,AAL26481,EAW98337,AAZ67915,AAK29071,AAM43832,AAM43833,BAF82246,AAR92485,AAH66881,AAH66882,AAH66883,AAH67484,AAH95506,Q4VBN1,Q9BXC0 Hs.458425,Hs.610873 GDB:10795901 FKSG80|GPR104|TA-GPCR protein-coding 1354119 GPR82 G protein-coupled receptor 82 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15489334,12477932,12044878,11574155 27197 NM_080817,AB065935,AB083595,AF411111,AL627402,CH471141,AJ319076,AK122626,AL832460,BC070180 NP_543007,BAC06150,BAB89308,AAL26482,EAW59395,CAC87490,AAH70180,Q5VT13,Q96P67 Hs.664795 GDB:10795902 protein-coding 1352259 GPR83 G protein-coupled receptor 83 1580863 16785516,12477932,11060465,10819331,10760605 10888 NM_016540,AP000765,CH471065,Y19228,AB040973,AF236081,BC067473,BC067474,EU432120 NP_057624,EAW66929,CAC19039,BAA96064,AAF43705,AAH67473,AAH67474,ABY87919,Q6NWR3,Q6NWR4,Q9H011,Q9NYM4 Hs.272385 GDB:10449610 GIR|GPR72 protein-coding 1323208 GPR84 G protein-coupled receptor 84 1331358,1580863 15489334,12477932,12044878,11404393,11273702 1331358 53831 NM_020370,AB083586,AC078778,CH471054,AF237762,AF282693,AK290394,BC020614,CR611934 NP_065103,BAB89299,EAW96776,AAK01857,AAF91467,BAF83083,AAH20614,Q9NQS5,ABM84143,ABM87545 Hs.306199 GDB:10796341 EX33|GPCR4 protein-coding 736296 GPR85 G protein-coupled receptor 85 70648 10833454,18413613,16381901,16344560,15893849,15489336,12853948,12477932,12408996,11256614,11230166,11076863,10978537,9847074 70648 54329 NM_018970,AB065688,AC073346,CH236947,CH471070,AB040800,AF250237,AL161959,BC030577,CR609708,DA483702,DA596250,DA768938 NP_061843,BAC05911,AAQ93365,EAL24372,EAW83476,BAA96646,AAF79956,CAB82307,AAH30577,P60893,Q0JST4,Q8NEN2,CAL38405,CAL38430 Hs.152009 GDB:10029349 SREB|SREB2 protein-coding 1317287 GPR87 G protein-coupled receptor 87 G protein-coupled receptors play a role in cell communication. They are characterized by an extracellular N terminus, 7 transmembrane regions, and an intracellular C terminus.[supplied by OMIM] 1331358 18183596,18057535,17905198,15489334,14702039,12477932,11574155,11273702 1331358 53836 NM_023915,AC024886,AC078816,CH471052,AB031548,AF086432,AF237763,AF345566,AF411114,AK027784,BC009540,BC112941,BC117565,BC132888,BC132890 NP_076404,EAW78808,BAD83583,AAK01858,AAK29069,AAL26485,BAB55366,AAH09540,AAI12942,AAI17566,AAI32889,AAI32891,Q5KU35,Q9BY21 Hs.591292 GDB:10796344 FKSG78|GPR95|KPG_002|MGC131898 protein-coding 735493 GPR88 G protein-coupled receptor 88 1580863 11056049,12477932,9373149,8125298 54112 NM_022049,AB042411,AC099670,AY336999,CH471097,AB042410,AF086060,AK225748,BC036775 NP_071332,BAB18248,AAQ76787,EAW72954,BAB18247,AAH36775,Q29S24,Q9GZN0 Hs.170053 GDB:10449608 STRG protein-coding 1642209 GPR89A G protein-coupled receptor 89A 12761501,16710414,15489334,14702039,12975309,12477932,11042152,10810093,9373149,8125298 653519 NM_001097613,NM_001097612,AL390725,AX881564,BX511042,AB097024,AB097025,AF132947,AK001354,AK021758,AK094228,AK223223,AY358966,BC003187,BC067816,BC146880,BT006679,DC349534 NP_001091082,NP_001091081,CAI13712,CAE91312,BAC77377,AAD27722,BAD96943,AAQ89325,AAH03187,AAH67816,AAI46881,AAP35325,Q9Y302,ABM84756,BAC77378 Hs.504320,Hs.559115 FLJ10492|FLJ11696|FLJ36909|MGC688|MGC87324 protein-coding 1348396 GPR89B G protein-coupled receptor 89B 1580863 16710414,15489334,14702039,12975309,12761501,12477932,11042152,10810093,9373149,8125298 51463 NM_016334,AL445591,BX537254,AF151035,AL133020,CR590313,CR620581,CR625868,DC305701,U78723 NP_057418,CAI18821,AAF36121,CAH56393,AAF21463,Q9Y302,AAI56844,ABM81576 Hs.645432 GPR89|SH120 g protein-coupled receptor 89 protein-coding 1625469 GPR89C G protein-coupled receptor 89C 16710414 728932 NM_001097616,AL356004,CD102528 NP_001091085,A6NKF9 Hs.559115 protein-coding 1346240 GPR89P G protein-coupled receptor 89 pseudogene 394254 NG_000934,AL009179 C11H1.2-Lp|SH120P pseudo 1344521 GPR90 G protein-coupled receptor 90 56669 GDB:10796794 1313843 GPR97 G protein-coupled receptor 97 1580863 15203201,15489334,15340161,14702039,12679517,12477932,12435584,222487 222487 NM_170776,AC018552,CH471092,AB049169,AK172801,AY140959,AY255601,BC044222,BC064508 NP_740746,EAW82946,BAC67700,BAD18774,AAN46673,AAO85113,AAH64508,Q86Y34 Hs.383403 GDB:10797023 GPR-97|PGR26|Pb99 protein-coding 1318161 GPR98 G protein-coupled receptor 98 This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. 1580863 11606593,10976914,16434480,15671307,12402266,14740321,15203201,16344560,15203218,14702039,12477932,12217514,12168954,11853319,11545713,11230166,10745043,10587582,9734811 84059 AL133041,NM_032119,NR_003149,NG_007083,AC027323,AC034215,AC074132,AC093281,AC093529,AC094109,AC099512,CH471084,AB014586,AB075823,AF055084,AF435925,AK024416,AL136541,BC034748,BI758469,BX493741,CD633594,DA503892 NP_115495,EAW95986,EAW95987,EAW95988,EAW95989,EAW95990,EAW95991,EAW95992,EAW95993,EAW95994,BAA31661,BAB85529,AAD55586,AAL30811,CAB61369,CAB66476,Q8TF58,Q8WXG9,Q9UFD2 Hs.591777 GDB:9954750 DKFZp761P0710|FEB4|KIAA0686|MASS1|USH2B|USH2C|VLGR1|VLGR1b monogenic, audiogenic seizure susceptibility 1 homolog (mouse) protein-coding 1349786 GPRASP1 G protein-coupled receptor associated sorting protein 1 16344560,16049099,15772651,15489334,15452121,15086532,12477932,12142540,11274227,9455477 9737 DA104338,DA222893,DA094297,NM_014710,NM_001099410,NM_001099411,AL035427,CH471190,AB007903,AW293629,AY044233,BC114552,BP193624,CR596060 Q5JY77,NP_055525,NP_001092880,NP_001092881,CAB55683,EAW54730,BAA23715,AAK95578,AAI14553 Hs.522729 GASP|GASP1|KIAA0443 protein-coding 1346303 GPRASP2 G protein-coupled receptor associated sorting protein 2 737633,1580863 15383276,11256614,16835690,16381901,15772651,15489336,15489334,15302935,15086532,14702039,12477932,11076863 737633 114928 NM_001004051,NM_138437,AL035427,CH471190,AA906216,AK092981,AK094646,AK096067,AK123832,AL832187,BC013576,BC036772,BC051707,BG719561,BX509838 NP_001004051,NP_612446,CAI43060,EAW54727,EAW54728,EAW54729,BAC04010,BAC04692,AAH13576,AAH36772,Q0JSM1,Q8N8W9,Q96D09,CAL38493 Hs.656888 FLJ35662|FLJ37327|GASP2 protein-coding 1603705 GPRC5A G protein-coupled receptor, family C, group 5, member A This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. 15951569,15659406,15489334,14706456,14702039,12477932,10945465,10783259,8832110,9857033,18000218,17055459,16565220 9052 NM_003979,AC007688,CH471094,AF095448,AF506289,AI587426,AK001761,AK122672,AK172760,AK291171,BC003665,CR597125 NP_003970,EAW96289,AAC98506,AAM77594,BAA91890,BAF83860,AAH03665,Q8NFJ5 Hs.631733 GPCR5A|RAI3|RAIG1 protein-coding 1319887 GPRC5B G protein-coupled receptor, family C, group 5, member B The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. 16303743,15489334,14702039,12477932,10945465,10783259,10493829 51704 NM_016235,AC004131,AC134300,CH471186,AF181862,AF202640,AJ276101,AK075119,AL137684,BC034467,CR591472 NP_057319,AAC27544,EAW50302,EAW50303,EAW50304,EAW50305,AAF05331,AAF67321,CAC00632,BAC11414,AAH34467,Q9NZH0,ABM81777,ABM84932 Hs.148685 GDB:10029278 RAIG-2|RAIG2 protein-coding 1322855 GPRC5C G protein-coupled receptor, family C, group 5, member C The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. 1580863 8125298,16189514,14667819,10783259,16303743,15489334,14702039,12477932,11311935,10945465,9373149 55890 NM_018653,AC079325,CH471099,AF207989,AJ276102,AK000249,AK075397,AK126429,AK131210,AK222909,BC004925,BC016860,BC069202,BC110848,BC125080,BC125081,BT007435,NM_022036,CR592340,CR595715,CR597806,CR622350 NP_071319,NP_061123,EAW89160,EAW89161,EAW89162,EAW89163,EAW89164,AAF72870,CAC00633,BAA91030,BAC11595,AAH04925,AAH16860,AAI10849,AAI25081,AAI25082,AAP36103,Q2NL85,Q53GM2,Q9BSP0,Q9NQ84,Q9NXI0,ABM82557,ABM85747 Hs.446438 GDB:10029283 MGC131820|RAIG-3|RAIG3 protein-coding 1344418 GPRC5D G protein-coupled receptor, family C, group 5, member D The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. 1580863 11311935,15489334,12477932,12044878 55507 Q9NZD1 BC107077,BC107078,AB083629,AC007688,CH471094,AB099817,AF209923,BC069341,NM_018654 AAI07078,AAI07079,Q9NZD1,NP_061124,BAB89342,EAW96294,BAC79169,AAF72873,AAH69341 Hs.644599 GDB:10796963 MGC129713|MGC129714 protein-coding 1352441 GPRC6A G protein-coupled receptor, family C, group 6, member A 16199532,15576628,15194188,14574404,12044878,11329013 222545 NM_148963,AB065680,AB083615,AL354716,CH471051,AF502962,AY435125,AY435126,AY435127,BG191110 NP_683766,BAC05904,BAB89328,CAI16922,EAW48214,AAM22230,AAS13465,AAS13466,AAS13467,Q5T6X5,AAI41420 Hs.675164 GDB:11506105 GPCR|bA86F4.3 protein-coding 1606183 GPRIN1 G protein regulated inducer of neurite outgrowth 1 15489334,15488195,15302935,12477932,11572484,10480904 114787 NM_052899,AC091934,CH471195,AB067480,AL834165,BC052950 NP_443131,EAW85065,BAB67786,CAD38868,AAH52950,Q7Z2K8 Hs.150549 GRIN1|KIAA1893 protein-coding 1318969 GPRIN2 G protein regulated inducer of neurite outgrowth 2 16189514,15489334,15488195,15164054,12477932,10480904,9628581 9721 NM_014696,AL356056,AL645529,AB011086,BC011672 NP_055511,BAA25440,AAH11672,O60269 Hs.523375 GDB:9958176 GRIN2|KIAA0514|MGC15171 protein-coding 1604710 GPRIN3 GPRIN family member 3 15488195,14702039,12477932 285513 AC093862,AC105388,CH471057,AB095947,AK091461,AK124616,BC126371,NM_198281 EAX06032,EAX06033,BAC23123,BAC85902,AAI26372,A0AVI5,Q6ZVF9,NP_938022 Hs.605082,Hs.610297 FLJ42625|GRIN3 protein-coding 732073 GPS1 G protein pathway suppressor 1 This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 16964243,15489334,15304329,14702039,12732143,12628923,12477932,12324474,12220626,11337588,11285227,11114242,9535219,9373149,8125298,14647295,9707402,12615944,8943324,17353931 2873 AB209596,AK026610,AK093283,AK222508,AK225248,BC000155,BC064503,BG775520,BT009834,CR591155,CR600436,CR603984,CR604026,CR606254,CR608007,CR608545,CR610362,CR612542,CR617458,U20285,NM_004127,AC135056,CH471099,NM_212492 BAD92833,BAC04120,AAH00155,AAH64503,AAP88836,AAC50906,Q13098,Q53HS2,Q59F65,NP_997657,NP_004118,EAW89741,EAW89742 Hs.268530 GDB:7154725 COPS1|CSN1|MGC71287 protein-coding 1317604 GPS2 G protein pathway suppressor 2 This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. 1302232,1580863 15159402,14702039,12628926,12477932,11931768,11486030,11347906,11230166,11119584,10846067,9325311,14527417,17353931,8943324,16189514,18218630,17895379,16169070,16122992,15489334 1302232 2874 NM_004489,AC026954,BC013652,BC014192,BC103901,BC103902,BC103903,BC107738,BT006998,CR541723,CR541750,CR604106,U28963 NP_004480,AAH13652,AAI03902,AAI03903,AAI03904,AAI07739,AAP35644,CAG46524,CAG46550,AAB60432,Q13227,Q3SY98,Q6FHM8 Hs.438219 GDB:7154726 AMF-1|MGC104294|MGC119287|MGC119288|MGC119289 protein-coding 1348855 GPSM1 G-protein signaling modulator 1 (AGS3-like, C. elegans) G proteins propagate intracellular signals initiated by G protein-coupled receptors. GPSM1, a receptor-independent activator of G protein signaling, is one of several factors that influence the basal activity of G protein signaling systems (Pizzinat et al., 2001 [PubMed 11278352]).[supplied by OMIM] 1304224,1580863 17991770,16458856,16189514,15537540,15489334,14530282,12925752,12642577,12477932,11278352,11024022,10969064,12826607 1304224 26086 NM_015597,BX649589,CH471090,AL117478,AY173053,BC009943,BC009979,BC017257,BC017353,BC048343,CR603710 NP_056412,CAI19338,CAI19339,CAM27654,EAW88216,EAW88217,EAW88218,CAB55951,AAO17260,AAH09979,AAH17353,AAH48343,Q86YR5 Hs.239370 AGS3|DKFZP727I051 protein-coding 1351498 GPSM2 G-protein signaling modulator 2 (AGS3-like, C. elegans) Heterotrimeric G proteins transduce extracellular signals received by cell surface receptors into integrated cellular responses. GPSM2 belongs to a group of proteins that modulate activation of G proteins (Blumer et al., 2002 [PubMed 11832491]).[supplied by OMIM] 631949,1580863 15537540,8973305,16458856,15632202,15489334,12925752,12748287,12477932,11832491,11781568 631949 29899 NM_013296,AL449266,CH471122,AI224972,AY136740,BC027732,CR456786,CR602234,DC341689,U54999 NP_037428,CAI14360,CAI14361,CAQ09802,CAQ09803,CAQ09804,EAW56340,EAW56341,EAW56342,EAW56343,EAW56344,AAN01266,AAH27732,CAG33067,AAB40385,P81274,Q5T1N8,Q5T1N9,Q6IBL7,ABM82955,ABM85856 Hs.584901,Hs.658489 LGN|Pins protein-coding 1343729 GPSM3 G-protein signaling modulator 3 (AGS3-like, C. elegans) 1580863 2259622,14667819,15489334,15096500,14656218,14574404,12477932 63940 NM_022107,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89335,U89336,AF155657,AJ243937,AJ243938,BC018724,CR604341,CR623296 Q9Y4H4,Q9Y4H5,NP_071390,CAI17541,CAI18360,CAI41816,CAM26229,CAQ06601,EAX03617,EAX03620,EAX03623,CAQ10705,CAQ09630,AAC63096,AAB47489,AAF67476,CAB51287,CAB51288,CAB51289,AAH18724,P78548,Q5STG6,Q9Y4H3 Hs.520046 C6orf9|G18|G18.1a|G18.1b|G18.2|NG1 protein-coding 733590 GPSN2 glycoprotein, synaptic 2 Microsomal long and very long chain fatty acid elongation uses malonyl-CoA as the 2-carbon donor and consists of 4 sequential reactions. TER catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA (Moon and Horton, 2003 [PubMed 12482854]).[supplied by OMIM] 1298632,1580863 15847654,15489334,14702039,12482854,12477932,11042152,9653160 1298632 9524 NM_138501,AC009004,AC010527,AC024585,CH471106,AF038958,AF038959,AF222742,AK001416,AK094087,BC000174,BC002425,BC005384,BC005952,BC007801,BC013881,BC034484,BG705196,BT007179,CR456892,CR591334,CR593648,CR593809,CR597795,CR598034,CR598088,CR599545,CR600147,CR600367,CR601637,CR602089,CR603038,CR603158,CR604768,CR605774,CR607305,CR608404,CR610113,CR610457,CR610793,CR613202,CR615202,CR615497,CR617427,CR620530,CR625392 NP_612510,EAW84434,EAW84435,AAC39872,AAC39873,AAF32373,AAH00174,AAH02425,AAH05952,AAH07801,AAH13881,AAP35843,CAG33173,Q9NZ01,ABM82875,ABM86061 Hs.515642 GDB:9957243 SC2|TER synaptic glycoprotein sc2 protein-coding 734191 GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1580863,1300048 9119391,1931970,18432999,18090161,17934148,17907318,17907292,17766001,17764776,17570354,17405346,17378732,17134955,16652026,15489334,15342556,15306699,14506613,12774006,12480555,12477932,12358155,11863375,9373149,8125298,5581908 2875 NM_005309,AC084125,CH471162,EF444981,U70732,AI283141,AK225562,BC018207,BP275218,BT006992,D10355 NP_005300,EAW82077,EAW82078,EAW82079,ACA05996,AAC51155,AAH18207,AAP35638,BAA01186,P24298,ABM92213,ABM84690 Hs.103502 GDB:120016 AAT1|ALT1|GPT1 protein-coding 1313502 GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 GPT (MIM 138200) and GPT2 (EC 2.6.1.2), also known as alanine transaminases, are pyridoxal enzymes that catalyze the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. By mediating the conversion of these 4 major intermediate metabolites, these transaminases have roles in gluconeogenesis and in amino acid metabolism.[supplied by OMIM] 1580863 17596883,17109502,15616553,15489334,14702039,12477932,11863375 84706 NM_133443,AC007225,AC018845,CH471092,AK090957,AK094971,AL833351,AY029173,BC051364,BC062555 NP_597700,EAW82690,EAW82691,EAW82692,BAC04465,AAK31794,AAH62555,Q8TD30 Hs.460693 GDB:11506107 ALT2 protein-coding 737005 GPX1 glutathione peroxidase 1 This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidase functions in the detoxification of hydrogen peroxide, and is one of the most important antioxidant enzymes in humans. This protein is one of only a few proteins known in higher vertebrates to contain selenocysteine, which occurs at the active site of glutathione peroxidase and is coded by UGA, that normally functions as a translation termination codon. In addition, this protein is characterized in a polyalanine sequence polymorphism in the N-terminal region, which includes three alleles with five, six or seven alanine (ALA) repeats in this sequence. The allele with five ALA repeats is significantly associated with breast cancer risk. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1600704,1600708,1600662,1600671,1600677,1625122,1580863,1300048,1302578 9605859,9501919,9373149,9126277,8125298,8001233,3697069,3658677,12751788,17097614,12221075,14573732,15203190,16132718,16945136,12810669,10833429,18483336,18469277,18449862,18417962,18298806,18186040,17850515,17825092,17693525,17634480,17625244,17548672,17526193,17334644,17275003,17171548,17149600,17052796,16979635,16956821,16868544,16797832,16627788,16615267,16614101,16543247,16538174,16523188,16424062,16413612,16354666,16287877,16230136,15990458,15946795,15878749,15829318,15774926,15489334,15331559,15318035,15298967,15295091,15247771,15192016,15167446,15149466,15125229,14962975,14962293,14744747,14671197,12893830,12832449,12787913,12732844,12655278,12531513,12496980,12477932,12470500,12447480,11823528,11368344,11112379,11103801,10880344,10652368,10220143,12893824,12829378,8428933,2976939,2307470,2955287,1556108,16871233,15910762 1600704,1600708,1600662,1600671,1600677,1625122,1302578 2876 NM_201397,AC121247,AY327818,CH471055,M83094,Y00483,AK130160,AK225835,BC000742,BC007865,BC070258,CR595371,CR601795,CR614747,CR620255,CR626479,M21304,X13709,X13710,Y00433,NM_000581 NP_000572,NP_958799,AAP80181,EAW64976,EAW64977,AAA67540,CAB37833,AAH00742,AAH07865,AAH70258,AAA75389,CAA31992,CAA31993,CAA68491,P07203,Q6NSD4 Hs.76686 GDB:119282 GSHPX1|MGC14399|MGC88245 protein-coding 1345750 GPX2 glutathione peroxidase 2 (gastrointestinal) This gene is a member of the glutathione peroxidase family and encodes a selenium-dependent glutathione peroxidase that is one of two isoenzymes responsible for the majority of the glutathione-dependent hydrogen peroxide-reducing activity in the epithelium of the gastrointestinal tract. Studies in knockout mice indicate that mRNA expression levels respond to luminal microflora, suggesting a role of the ileal glutathione peroxidases in preventing inflammation in the GI tract. 1580863 15923610,15489334,12751789,12674495,12477932,11811519,11373322,11368344,10806356,10652368,9501919,9373149,8833155,8287691,8125298,2388849,15910762,16446369,8428933,18483336,18056462,17937616,17277236,16794261 2877 NM_002083,AF199441,AL139022,AY785560,CH471061,X91863,AK225871,BC005277,BC016756,BC022820,BC039850,BC046164,BC067221,X53463,X68314 NP_002074,AAF74026,AAV31780,EAW80889,EAW80890,EAW80891,EAW80892,AAH05277,AAH16756,AAH22820,AAH67221,CAB43534,CAA48394,P18283 Hs.2704 GDB:138282 GI-GPx|GPRP|GSHPX-GI|GSHPx-2 protein-coding 1343858 GPX3 glutathione peroxidase 3 (plasma) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 1580863 1897960,3693360,2491950,8056346,18483336,18096833,17937619,17804715,17122425,16937131,16229808,15489334,15375613,15096516,12732844,12674495,12553559,12477932,11983108,11934214,11368344,11149894,10970826,10652368,9501919,8287691,8262911,3619451,2229017,1339300,15910762 2878 CR612224,CR612826,CR613209,CR613346,CR613980,CR614185,CR615321,CR615361,CR615751,CR615956,CR615996,CR616153,CR617470,CR617790,CR618599,CR618652,CR619761,CR620123,CR621207,CR621477,CR621904,CR622704,CR623260,CR623261,CR623599,CR623606,CR623805,CR623984,CR623985,CR624624,CR624695,CR625290,CR625755,AC008641,AY310878,CH471062,D16360,D16361,D16362,AF217787,AL036834,BC013218,BC013601,BC025956,BC035841,BC050378,NM_002084,BC066949,BI522602,CR590253,CR590594,CR591081,CR591367,CR591549,CR591707,CR591749,CR592896,CR593150,CR594135,CR594536,CR596498,CR596721,CR597297,CR597434,CR597736,CR598094,CR598624,CR598855,CR599318,CR599488,CR599527,CR599819,CR600420,CR601235,CR601731,CR601895,CR602168,CR603874,CR605862,CR606740,CR607596,CR608662,CR609961,CR610586,CR612204,CR626765,D00632,X58295 NP_002075,AAP50261,EAW61692,EAW61693,BAA03862,BAA03863,BAA03864,AAF43005,AAH13601,AAH35841,AAH50378,AAH66949,BAA00525,CAA41228,P22352,Q6NXQ3 Hs.386793,Hs.710439 GDB:138344 GPx-P|GSHPx-3|GSHPx-P protein-coding 736049 GPX4 glutathione peroxidase 4 (phospholipid hydroperoxidase) Glutathione peroxidase catalyzes the reduction of hydrogen peroxide, organic hydroperoxide, and lipid peroxides by reduced glutathione and functions in the protection of cells against oxidative damage. Human plasma glutathione peroxidase has been shown to be a selenium-containing enzyme and the UGA codon is translated into a selenocysteine. Through alternative splicing and transcription initiation, rat produces proteins that localize to the nucleus, mitochondrion, and cytoplasm. In humans, experimental evidence for alternative splicing exists; alternative transcription initiation and the cleavage sites of the mitochondrial and nuclear transit peptides need to be experimentally verified. 1300048,1302561,1580863 9705830,8039723,18483336,18400727,17634480,17630701,17516241,17052796,17020817,16979635,16872467,16868544,16424062,16341674,15978628,15489334,15474074,15308634,15256721,15225122,15149466,15057824,14642406,12958179,12868489,12732844,12606444,12490284,12477932,12427732,12193409,12152199,11368344,10652368,10464096,9501919,9373149,8889548,8287691,8125298,15910762 1302561 2879 NM_001039847,NM_002085,NM_001039848,AC004151,AC005390,AF060972,AY324108,CH471139,AK225859,BC010157,BC011836,BC021567,BC022071,BC032695,BC039849,BC046163,BC058329,BM764133,BQ648717,CF127510,CR591093,CR595286,CR608332,CR617590,CR618930,CR619467,X71973 NP_001034936,NP_002076,NP_001034937,AAC03239,AAC28920,AAC32261,AAP72965,EAW69543,EAW69544,EAW69545,EAW69546,AAH10157,AAH11836,AAH21567,AAH22071,AAH32695,AAH39849,AAH46163,CAA50793,P36969,Q6PI42,Q6PJX4 Hs.433951 GDB:138343 MCSP|PHGPx|snGPx|snPHGPx glutathione peroxidase 4 protein-coding 1352844 GPX5 glutathione peroxidase 5 (epididymal androgen-related protein) Glutathione peroxidase (GPX)/glutathione reductase is part of the hydrogen peroxide scavenging system found within the epididymis in the mammalian male reproductive tract. GPX5 expression is epididymis-specific and the transcript is unique from other GPXs because it contains a deletion resulting in an mRNA that does not contain a selenocysteine (UGA) codon (an unusual amino acid present in other GPXs). This deletion also renders the mRNA incapable of encoding an active GPX isoenzyme. For this reason, GPX5 is selenium-independent and has very little activity towards hydrogen peroxide or organic hydroperoxides. GPX5, which is bound to the acrosome of sperm, may act to protect sperm from premature acrosome reaction in the epididymis. 1580863 9639555,14702039,14574404,12477932,12211066,11368344,11076863,10652368,9783843,9501919,9110319,1386734,15910762 2880 NM_001509,NM_003996,AL049543,AY882013,CH471081,AJ005277,AK093099,BC128159,BC128160 NP_001500,NP_003987,CAB71121,AAW56939,EAX03168,EAX03169,CAA06463,AAI28160,AAI28161,O75715,AAI11376 Hs.248129 GDB:426572 protein-coding 735998 GPX6 glutathione peroxidase 6 (olfactory) This gene product belongs to the glutathione peroxidase family, which functions in the detoxification of hydrogen peroxide. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Expression of this gene is restricted to embryos and adult olfactory epithelium. 1580863 12775843,11368344,10652368,9501919,15910762 257202 NM_182701,AL049543,CH471081,AY324826,BC133691,BC148315 NP_874360,EAX03167,AAP85543,AAI33692,P59796,ABM81789 Hs.448570 GDB:426575 protein-coding 1315932 GPX7 glutathione peroxidase 7 16713569,16710414,16189514,15489334,15294905,14702039,12975309,12477932,10652368,9501919,15910762,11368344 2882 BC032788,CR602700,CR621624,NM_015696,AL356976,CH471059,DQ096732,AF091092,AF320068,AK027683,AY358402 AAH32788,Q96SL4,ABM84944,NP_056511,CAI22476,EAX06777,AAY88741,AAC72961,AAN76501,BAB55294,AAQ88768 Hs.43728 GDB:635736 CL683|FLJ14777|GPX6|NPGPx protein-coding 1352560 GPXP1 glutathione peroxidase pseudogene 1 2883 GDB:120630 1343113 GPXP2 glutathione peroxidase pseudogene 2 10830953,1487153 2884 NG_001134,AP001603,M93083 GDB:120629 GPXL1|GPXL2|GPXP2P pseudo 1347107 GPXP3 glutathione peroxidase pseudogene 3 394215 1322253 GRAMD1A GRAM domain containing 1A 737633 16303743,14702039,12477932,10819331 737633 57655 NM_020895,AC020907,AB040966,AK026064,AK074827,AK074864,AK074914,AK097215,BC014077,BC041618,CR601407,CR612061,CR617236 NP_065946,BAA96057,BAC11289,AAH14077,Q96CP6 Hs.515351 FLJ22411|FLJ90346|KIAA1533 protein-coding 1606522 GRAMD1B GRAM domain containing 1B 12975309,12477932,12107411,10574462 57476 BC105931,BC105932,BC107480,BQ636364,NM_020716,AP000841,AP002765,AB033027,AI815988,AK127457,AY358924,BC011969,BC035131,BC040970,BC063616,BC105741 AAI05932,AAI05933,AAI07481,Q3KR37,NP_065767,BAA86515,AAQ89283,AAI05742 Hs.144725 KIAA1201|MGC125622|MGC125623|MGC125625 protein-coding 1606791 GRAMD1C GRAM domain containing 1C 12477932,12975309,14702039 54762 NM_017577,AC079944,AC128687,CH471052,AK093181,AK097783,AK292846,AK292964,AL133661,AY358725,BC028972,BC035040,BX648633,CV575069 NP_060047,EAW79621,EAW79622,EAW79623,EAW79624,BAF85535,BAF85653,CAB63774,AAQ89087,AAH28972,AAH35040,CAH10770,Q8IYS0 Hs.24583 DKFZp434C0328|DKFZp686K06117|FLJ35862|FLJ40464 protein-coding 1605266 GRAMD2 GRAM domain containing 2 14702039,12477932 196996 NM_001012642,AC020779,CH471082,AK002016,AK095072,AK096501,BC008057,BC024783,BC038451 NP_001012660,EAW77882,EAW77883,AAH38451,Q8IUY3 Hs.596332 protein-coding 1604604 GRAMD3 GRAM domain containing 3 17081983,15489334,14702039,12477932,9373149,8125298 65983 NM_023927,AC093535,CH471086,AK024966,AK225829,AL157454,AL583910,AY116970,BC008590,CR592715 NP_076416,EAW48852,EAW48853,EAW48854,EAW48855,BAB15045,CAC29494,AAM77213,AAH08590,Q96HH9,Q9BYJ8 Hs.363558 FLJ21313|NS3TP2 protein-coding 1604385 GRAMD4 GRAM domain containing 4 15565177,15461802,12477932,11937641,9872452 23151 NM_015124,AL021392,AL096766,CH471138,AB018310,AI399959,AL137628,BC011984,BC063558,BC080189,BC129837,CR456470 NP_055939,CAI18820,EAW73432,EAW73433,EAW73434,EAW73435,EAW73436,EAW73437,BAA34487,AAH80189,AAI29838,CAG30356,Q6IC98 Hs.475150 DIP|KIAA0767|MGC149847|MGC90497|dA59H18.1|dJ439F8.1 protein-coding 1353606 GRAP GRB2-related adaptor protein This gene encodes a member of the GRB2/Sem5/Drk family. This member functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. 1580863 8647802,18295596,15489334,15174222,12819203,12491092,12477932,11741599,9489702,9484780,8995379 10750 NM_006613,AC003957,AC007952,BC035856,BC063035,BQ056077,BT019981,CR541941,CR541966,CR595033,CR600595,CR615744,CR624975,U52518 NP_006604,AAH35856,AAH63035,AAV38784,CAG46739,CAG46764,AAC50541,Q13588 Hs.567416 GDB:9864888 MGC64880 protein-coding 1316895 GRAP2 GRB2-related adaptor protein 2 This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Transcript variants utilizing alternative polyA sites exist. 1580863 11607830,17652306,18295596,17235283,16818765,16730941,16189514,15489334,15461802,15144186,15063762,12917638,12554803,12522270,12496419,12487779,12477932,12084069,12062812,11997510,11741599,11641407,11313918,10820259,10811803,10801854,10591208,10224278,10209041,10021361,9872323,9857184,15696170,9878555,12359715,11048639 9402 AF236120,AJ011736,AY069959,BC025692,BC026002,CR456498,CR536524,CR541849,CR604186,Y18051,NM_004810,CH471095,Z82206,AF042380,AF090456,AF102694,AF121002,AF129476,AF236119 AAF60320,CAA09757,AAL58573,AAH25692,AAH26002,CAG30384,CAG38761,CAG46647,CAA77021,O75791,Q6FHA6,Q6FI14,Q9NRB7,CAK54526,CAK54825,ABM84070,ABM87430,NP_004801,EAW60356,EAW60357,EAW60358,EAW60359,EAW60360,EAW60361,CAI42713,CAQ07277,AAC69273,AAD13027,AAD04926,AAF31758,AAD41782,AAF60319 Hs.517499 GDB:9956631 GADS|GRAP-2|GRB2L|GRBLG|GRID|GRPL|GrbX|Grf40|Mona|P38 protein-coding 733545 GRASP GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 1580863 17396155,15489334,12586822,12477932,11850456,10828067,9828130 160622 NM_181711,AC025259,CH471111,AJ227899,BC035500,BC052967,BC053666,CR591341 NP_859062,EAW58220,EAW58221,AAH35500,AAH52967,AAH53666,Q7Z6J2 Hs.407202 GDB:11508989 TAMALIN grp1 (general receptor for phosphoinositides)-associated scaffold protein protein-coding 1602534 GRASPOS GRP1-associated scaffold protein opposite strand 12477932 692159 BC028005 Hs.621295 protein-coding 1352618 GRB10 growth factor receptor-bound protein 10 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner. Alternatively spliced transcript variants encoding different isoforms have been identified. 1625124,1580863 9006901,8798570,17846126,17376403,16964243,16644667,16434550,15952796,15870923,15722337,15506681,15489334,15060076,14702039,12853948,12771153,12697834,12551896,12493740,12477932,11812778,11809791,11527390,11494124,10871840,10861285,10856193,10585452,10454568,9881709,9847074,9753425,9747873,9632636,9553107,9506989,9360986,9070953,9039502,8798417,8764099,8621530,8403458,7665556,7479769,1633648,12421765 1625124 2887 NM_001001549,NM_005311,NM_001001550,AC004920,AC005153,AC007089,AC080092,AF073363,AF073364,AF073365,AF073366,AF073367,AF073368,AF073369,AF073370,AF073371,AF073372,AF073373,AF073374,AF073375,AF073376,AF073377,AF073378,CH236955,CH471128,AB000731,AF000017,AF000018,AF001534,AJ271366,AK021643,AK289511,BC024285,NM_001001555,BQ006601,BU598359,BX649028,CR624299,D86962,U34355,U66065,U69276 NP_001001555,NP_001001549,NP_005302,NP_001001550,AAS00377,AAS07426,AAC83655,AAC83654,EAL23897,EAW60964,EAW60965,EAW60966,EAW60967,EAW60968,BAF76353,AAC19748,AAC19749,AAB81134,CAB96542,BAF82200,AAH24285,BAA13198,AAA88819,AAC50671,AAB08431,O00428,Q13322,Q75M93,Q75MT1,ABM82626,ABM87845 Hs.164060 GDB:1297555 GRB-IR|Grb-10|IRBP|KIAA0207|MEG1|RSS protein-coding 732013 GRB14 growth factor receptor-bound protein 14 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Transcript variants have been reported for this gene, but their full-length natures have not been determined to date. 1625124,1580863,61620 8647858,16849634,16246733,15489334,15372466,15322292,15210700,12477932,12242277,11726652,11607834,11278563,11235915,10713090,10521483,9748281,8812444 1625124,61620 2888 NM_004490,XM_001131269,XM_001131281,AC107075,AC110086,CH471058,AK074599,BC053559,CR612679,L76687 NP_004481,XP_001131269,XP_001131281,AAY14768,AAY24176,EAX11342,EAX11343,AAH53559,AAC15861,Q14449,Q53QM9,Q53QQ0 Hs.411881 GDB:1297556 growth factor receptor bound protein 14 protein-coding 732473 GRB2 growth factor receptor-bound protein 2 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1302563,1302565,1299201,1581313,1300048,1642762 8994038,8986819,8955163,8943348,8918464,8887653,8816480,8798570,8794768,8780727,8723348,8702859,8700507,8695800,8670803,8670205,8663276,8662998,8662907,8662889,8662748,8649391,8649368,8647288,8633037,8631894,8630373,8621483,8585965,8585605,8576157,8570203,8547634,8536716,8491186,11520933,1322798,7739560,8479541,8493579,8621719,8810325,9356464,9690470,10567358,10648629,10734310,10913131,11606067,11823423,11894095,14560030,14665621,15574420,14722116,18307981,18258597,18192688,18003605,17991782,17849173,17689925,17616655,17466257,17081983,16955467,16906159,16818765,16760435,16730941,16729043,16407827,16382132,16344560,16339550,16298995,16249387,16038803,15879090,15688026,15635092,15556869,11741599,11739737,11733534,11726515,11711534,11707405,11707404,11606575,11571277,11551923,11551227,11546790,11533253,11527382,11509578,11483358,11466354,11439336,11433379,11432792,11384839,11371563,11352655,11314042,11292345,11278754,11278583,11173924,11157975,11152963,11133830,11127814,11094073,11071869,11063574,10982817,10973965,10970810,10942756,10940929,10940627,10903901,10900203,10899172,10820378,10790433,10781592,10781580,10748052,10747847,10706702,10660596,10636929,10602027,10559276,10521483,10490839,10488157,10477741,10469124,10467411,10455176,10395476,10386953,10377264,10359574,10354709,10339567,10330178,15546961,15489334,15467741,15368963,15326489,15314156,15187135,15182856,15173068,15122321,14702039,14679214,14667819,13129930,12852788,12748278,12730204,12624098,12531430,12529371,12522133,12514734,12486104,12485888,12477932,12441060,12424224,12402043,12400011,12399475,12388170,12359715,12345679,12242309,12242006,12220636,12186904,12171928,12162872,12149229,12112020,12023017,12007418,12006650,11997436,11997181,11964172,11960376,11923305,11897833,11882361,11877424,11827484,11741929,10329689,10319320,10318918,10224664,10090780,10087612,10086340,10080542,10077576,10068651,10051406,10022833,10022120,9927207,9891069,9891051,9856458,9852124,9846481,9843378,9830057,9824671,9788432,9733714,9722576,9716598,9705962,9697839,9694876,9670936,9668219,9660791,9660480,9642078,9632781,9632636,9590294,9569023,9553137,9544989,9516488,9507006,9489702,9484780,9480847,9395447,9422736,9393871,9388224,9380408,9368064,9346925,9344857,9341187,9307968,9299436,9295052,9281317,9233773,9182757,9178913,9178909,9178760,9171350,9135065,9108392,9079622,9062191,9050991,9045692,9045636,9038219,9019171,9016807,9013873,9009162,8995445,8253073,12577067,8388384,8262059,8188688,8178156,8119878,8112292,8063801,8041791,8022809,7997267,7982917,7970715,7935391,7929073,7881903,7809090,7806216,7806213,7799925,7798267,7759531,7744812,7737969,7737275,7716522,7706237,7675451,7675449,7664271,7642542,7629168,7629138,7559579,7556090,7544353,7535773,7534299,7527043,7524086,7518772,7511210,7510700,7500025,7488107,7488076,7486658,7478529,1384039,917890,11006130,10906142,16436505,12615911,16189514,15143164,9174058,10887132,9747873,7862111,15735675,9872323,9047383,12470648,11053437,15782189,10571082,9374537,11878897,15782196,7597091,10891441,8939605,7515480,8084588,8305738,7523381,8195176,9148935 1302563,1302565,1299201,1581313,1642762 2885 NM_203506,NM_002086,AC011933,AF063618,CH471099,AA452034,AF171699,AF246238,AF302079,AF498925,AK024539,AK091010,BC000631,BC009417,BC019082,BC033644,BC039827,BC043007,BI459414,BQ073225,BQ962129,CR450363,CR541942,DA458680,L29511,M96995,X62852 NP_987102,NP_002077,AAC72075,EAW89270,EAW89271,EAW89272,AAQ13606,AAG44485,AAG27442,AAM21073,BAB14923,AAH00631,CAG29359,CAG46740,AAC37549,AAA58448,CAA44664,P62993,Q6ICN0,Q7Z4F5,Q9H2Q4,Q9H7G8,Q9HAU2,ABM82756,ABM85849 Hs.444356,Hs.708119 GDB:134732 ASH|EGFRBP-GRB2|Grb3-3|MST084|MSTP084 growth factor receptor bound protein 2 2289580,2289581,2289583 BW461_H,BW460_H,BW462_H protein-coding 733273 GRB7 growth factor receptor-bound protein 7 The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Alternative splicing results in multiple transcript variants encoding different isoforms, although the full-length natures of only two of the variants have been determined to date. 1580863 9710451,15806159,17916906,17705331,17634422,17426702,17117180,16595785,16354586,15930003,15841400,15489334,15470489,15010812,14702039,14585167,12975581,12853971,12852788,12477932,12061724,12021278,11897833,11809769,11607834,11075810,10893408,10803466,10664463,10521483,10446223,10377264,9516479,9373149,9360986,9125150,9079677,8988034,8940081,8631863,8125298,1409582,15778465,16189514 2886 NM_005310,NM_001030002,AC079199,AF274875,CH471152,AB008789,AB008790,AK027729,AK125544,AK222849,AK222870,AK290115,BC006535,BE247550,BT006686,CR590154,D43772,D87513 NP_005301,NP_001025173,AAG25938,EAW60600,EAW60601,BAA29059,BAA29060,BAD96569,BAD96590,BAF82804,AAH06535,AAP35332,BAA07827,BAA13412,Q14451,Q53YD3,Q9Y220,ABM84787,ABW03622 Hs.86859 GDB:1297554 growth factor receptor binding protein grb7 protein-coding 1605705 GREB1 GREB1 protein This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 17666587,17463000,16496412,15986123,15001666,14702039,12477932,11103799,9628581 9687 NM_014668,NM_148903,NM_033090,AC011994,AC110754,CH471053,AB011147,AF245388,AF245389,AF245390,AK056886,BC034455,BC054502,BC071853 NP_055483,NP_683701,NP_149081,AAX88907,EAX00925,EAX00926,EAX00927,EAX00928,EAX00929,EAX00930,BAA25501,AAG39036,AAG39037,AAG39038,AAH54502,AAH71853,O60321,Q4ZG55,Q6IPM5,Q7Z5S2,Q9H2Q6,Q9H2Q7,Q9H2Q8 Hs.467733 GDB:9957952 KIAA0575 protein-coding 1346462 GREM1 gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis) This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. 632526,1580863 16545136,9660951,17980714,17975199,17403698,17015616,17003113,16606614,16234815,15957132,15539560,15528323,15489334,15340161,14702039,12885271,12808456,12477932,12135612,10894942,10744662,10026205 632526 26585 NM_013372,AB032372,AC090877,CH471125,DQ100070,AF045800,AF110137,AF154054,AK095741,AK095890,AK095972,AL359059,AL359060,AY232290,BC069525,BC093778,BC101611 NP_037504,BAA84462,EAW92267,EAW92268,EAW92269,AAZ29612,AAC39725,AAF06677,AAG23891,BAC04620,BAC04643,AAP69985,AAH69525,AAH93778,AAI01612,O60565 Hs.40098 CKTSF1B1|DAND2|DRM|GREMLIN|IHG-2|MGC126660|PIG2 2289561 BW440_H protein-coding 1350364 GREM2 gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis) This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. 14525956,12477932,16710414,15489334,15254711,15039429,14702039,15621726,17029022 64388 NM_022469,AL358176,CH471098,AK024848,BC046632,BQ005641 NP_071914,CAH74074,EAW70083,EAW70084,BAB15026,AAH46632,Q9H772 Hs.98206 CKTSF1B2|DAND3|PRDC gremlin 2 homolog, cysteine knot superfamily (xenopus laevis) protein-coding 1313942 GRHL1 grainyhead-like 1 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein interacts with sister of mammalian grainyhead (SOM) and may function as a transcription factor during development. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 15815621,15489334,12549979,12477932,12393799,12175488,10644752 29841 NM_014552,NM_198182,AC010969,CH471053,AF198489,AF411210,AI686262,BC063299,BC067519,BC067520,BC067521,BC098456,BE537504,BF573452,CB048030,CB960104,CD559574 NP_055367,NP_937825,AAX93273,EAX00973,AAF32276,AAM22616,AAH67519,AAH67520,AAH67521,Q9NZI5 Hs.418493 LBP-32|LBP32|MGR|TFCP2L2 protein-coding 1342517 GRHL2 grainyhead-like 2 (Drosophila) TFCP2L3 is a member of a family of transcription factor genes whose archetype is TFCP2 (MIM 189889), a mammalian ortholog of the Drosophila gene 'grainyhead' (grh).[supplied by OMIM] 17921507,15489334,14702039,12549979,12477932,12393799,12175488 79977 NM_024915,AP000426,AP001207,CH471060,AK002034,AK023844,AK292853,BC069618,BC069633,BC069638,BC129822,BC129823 NP_079191,EAW91833,EAW91834,BAB14699,BAF85542,AAH69618,AAH69633,AAH69638,AAI29823,AAI29824,Q6ISB3 Hs.661088 BOM|DFNA28|FLJ11172|FLJ13782|MGC149294|MGC149295|TFCP2L3 transcription factor cp2-like 3 protein-coding 1318023 GRHL3 grainyhead-like 3 (Drosophila) This gene encodes a member of the grainyhead family of transcription factors. The encoded protein interacts with leader-binding protein 32 (LBP-32) and brother of mammalian grainyhead (BOM), and may function as a transcription factor during development. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Additional transcript variants have been described, but their biological nature has not been determined. 16710414,15489334,14702039,12549979,12477932 57822 AK074386,AL137763,AY231160,AY231161,BC036890,BU848928,NM_198173,NM_021180,NM_198174,AL031431,AL138902,CH471134 EAW95122,EAW95123,BAB85067,CAB70911,AAO67370,AAH36890,Q8TE85,Q9NST3,ABZ92406,EAW95121,NP_937816,NP_067003,NP_937817,CAI21406,CAI21407,CAM12855,CAI22857,CAI22858,CAM12854,EAW95120 Hs.657920 MGC46624|SOM|TFCP2L4 transcription factor cp2-like 4 protein-coding 1318860 GRHPR glyoxylate reductase/hydroxypyruvate reductase This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. 1599318,1580863 10484776,10524214,15231747,11256614,17510093,16756993,16381901,15489336,15489334,15327387,14702039,12477932,10679197,11076863,11030416 1599318 9380 CR599399,CR602677,CR610353,CR616405,CR617672,CR621288,CR624268,CR626677,NM_012203,AF146689,AL158155,CH471071,AF113215,AF113251,AF134895,AF146018,AK024386,AK025978,AK026287,AK026752,BC000605,BC003131,BC088360,CR590962,CR591687,CR592206,CR592742,CR597201,CR598870,CR599135 Q5M7Z5,Q5T945,Q9H636,Q9UBQ7,CAL38281,CAL38505,NP_036335,AAD46517,CAI13847,CAI13848,EAW58283,EAW58284,EAW58285,EAW58286,AAG39286,AAD54066,AAF00111,AAD45886,BAB15430,AAH00605,AAH88360 Hs.155742 GDB:9956132 GLXR|PH2 protein-coding 731547 GRIA1 glutamate receptor, ionotropic, AMPA 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863,704404 1311100,18484081,18444252,17545169,17483093,17208968,16526023,15866042,15858065,15673434,15489334,15145077,15144856,14614461,14610080,12888558,12609872,12603841,12573530,12477932,12368290,12125045,11916847,11891216,11751897,11567040,11418862,11140673,11050113,10896157,10751563,10575214,10461883,10364548,10358037,10023812,9808458,9677374,9466455,9407043,9069287,8663994,8420792,8163463,7919190,7877986,1652753,1320959,1319477,12933808 2890 NM_001114183,AC010613,AC025156,AC091960,AC091962,CH471062,AB209094,AK289565,AK310189,AL120214,BC111734,DC335107,M64752,M81886,X58633,NM_000827 NP_000818,NP_001107655,EAW61649,EAW61650,EAW61651,BAD92331,BAF82254,AAI11735,AAA58613,AAA58395,CAA41491,P42261,Q59GL5 Hs.519693 GDB:128644 GLUH1|GLUR1|GLURA|HBGR1|MGC133252 glutamate receptor, ionotropic, ampa1 (alpha 1) protein-coding 732446 GRIA2 glutamate receptor, ionotropic, AMPA 2 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. 737715,1580863 8003671,18163426,17942280,16344560,16215279,16045445,15489334,15342556,15145077,15144856,15071096,15006707,14985749,14630051,12859334,12805550,12694394,12477932,12130635,12125045,12062022,11931740,11860506,11086992,11007883,10985351,10688364,10501226,8420792,8269514,7919190,7545935,7523595,1717158,1699275,1319477,1311100,9768844,10576550,11891216 737715 2891 NM_001083619,NM_000826,NM_001083620,AC079233,AC112240,AF201343,CH471056,AB209567,AL708924,AL832605,BC010574,BC028736,BP202382,BP202686,DA228330,DA810082,L20814 NP_001077088,NP_000817,NP_001077089,AAF23955,EAX04865,EAX04866,EAX04867,EAX04868,EAX04869,EAX04870,EAX04871,BAD92804,AAH10574,AAH28736,AAA58631,P42262,Q59F93,Q9UHB0 Hs.32763 GDB:131458 GLUR2|GLURB|GluR-K2|HBGR2 glutamate receptor, ionotropic, 2 protein-coding 737336 GRIA3 glutamate receptor, ionotrophic, AMPA 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing at this locus results in different isoforms, which may vary in their signal transduction properties. 1580863 1709304,18163426,17989220,17202328,16368877,16344560,15772651,15145077,15144856,14687553,14663150,12682273,12477932,12125045,11931740,11891216,11725645,11160179,10688364,10644433,10602120,9892356,9697855,8951883,8036512,7918660,1319477,16990550,9768844 2892 NM_007325,AF159277,AF166365,AF167332,AF201349,AL035426,AL356213,AL590139,NM_000828,CH471107,Z82899,Z83848,AW166130,BC032004,BC117464,BE504553,BY799542,DA158269,DA179917,DA180344,DA191279,DB505790,U10301,U10302 NP_000819,NP_015564,AAF61847,AAF61848,AAF97857,AAF97858,AAF97859,AAF23961,CAI95683,CAI95684,CAI95164,CAI95165,EAX11865,EAX11866,EAX11867,CAI95664,CAI95665,CAI95709,CAI95710,CAI95711,AAH32004,AAI17465,AAA67922,AAA67923,P42263,Q17R51,Q4TT43,Q5XKG2,Q9P0H1,Q9P0H2,Q9UHA9 Hs.377070 GDB:131459 GLUR-C|GLUR-K3|GLUR3|GLURC|MRX94 glutamate receptor, ionotropic, ampa3 (alpha 3) protein-coding 733821 GRIA4 glutamate receptor, ionotrophic, AMPA 4 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. 1358642,1580863 8589990,18163426,17233759,16344560,16190873,15823042,15450689,15306133,12603841,12574408,12497607,12477932,12471040,12393905,12125045,11891216,11140673,10688364,10366608,9466455,8889548,8163463,7992055,7518497,1319477 1358642 2893 NM_001077244,NM_001077243,NM_000829,NM_001112812,AP000641,AP000673,AP000813,AP001023,AP001561,CH471065,AB115416,BC015199,BC035610,BC045546,BC114549,BC146816,BC150209,BM675457,BM723114,DA077870,DA391203,DB298333,DB305322,DB473702,DB548729,U16129,AB209092,BC142654 NP_001070712,NP_001070711,NP_000820,NP_001106283,EAW67066,EAW67067,EAW67068,EAW67069,BAD23796,AAH45546,AAI14550,AAI42655,AAI46817,AAI50210,AAA95962,P48058,Q1WWK6,Q59GL7,Q6L8Q8,Q86XE8,BAD92329 Hs.503743 GDB:131460 GLUR4|GLUR4C|GLURD glutamate receptor, ionotropic, 4 protein-coding 68523 GRID1 glutamate receptor, ionotropic, delta 1 GRID1 is subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity (Yamazaki et al., 1992 [PubMed 1372507]).[supplied by OMIM] 1580863 17490860,16380905,15489334,12477932,12372286,11829466,10574462,10234023,9828146,1372507 2894 NM_017551,AC022028,AC073162,AC079955,AL451059,AL596135,AL683834,AL732479,AL844892,CH471142,AB033046,AK127168,AK293104,BC039263,BC047948 NP_060021,CAI39475,CAI39587,EAW80338,EAW80339,EAW80340,EAW80341,BAA86534,BAF85793,AAH39263,AAH47948,Q5JQ58,Q5VSK3,Q86WT4,Q9ULK0 Hs.530653 GDB:9191077 KIAA1220 protein-coding 68527 GRID2 glutamate receptor, ionotropic, delta 2 Human glutamate receptor delta-2 (GRID2) is a relatively new member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. GRID2 is a predicted 1,007 amino acid protein that shares 97% identity with the mouse homolog which is expressed selectively in cerebellar Purkinje cells. A point mutation in mouse GRID2, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This strongly suggests a role for GRID2 in neuronal apoptotic death. 704404,1580863 9465309,17027646,12589829,12573530,12477932,12372286,11829466,10748123,10234023,9847074,7506541,11826110 2895 AF009014,BC099652,BC099653,AC095059,AC096769,AC104077,AC105315,AC105452,AC108158,AC110800,AC112695,AC115111,AC115537,CH471057,AB209318,NM_001510,AC020699,AC022317,AC093596,AC093733,BC099654 AAC39579,AAH99652,AAY41014,AAY40921,AAY41015,EAX06044,BAD92555,NP_001501,AAY40938,AAH99653,AAH99654,O43424,Q4KKU8,Q4KKU9,Q4KKV0,Q4W5B7,Q4W5F4,Q4W5L9,Q4W5S4,Q59FZ1 Hs.480281 GDB:9190035 MGC117022|MGC117023|MGC117024 protein-coding 1351156 GRID2IP glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1 14612983 340265 XM_294249 1345419 GRIFIN galectin-related inter-fiber protein 70755 17512496,12853948,12690205,9786891 70755 402635 NM_001099942,AC004840,AC092488,CH236953 NP_001093412,EAL23956,A4D1Z8 Hs.700480 GDB:10450521 protein-coding 731546 GRIK1 glutamate receptor, ionotropic, kainate 1 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. 704404,1358334,1580863,1642476,1642498,1642496 9335499,10580501,8260617,17698324,15974569,14527949,12597860,11943148,11891216,11702055,11418862,10830953,10828597,10023812,9808458,9259378,9069287,8589992,8468067,8419920,8163463,7696618 1358334,1642476,1642498,1642496 2897 NM_000830,AF107257,AF107259,AP000091,AP000236,AP000237,AP000238,AP000239,CH471079,AA404271,AJ249208,BC028238,L19058,U16125,NM_175611 NP_783300,NP_000821,AAD03059,AAD04931,BAA97452,EAX09906,EAX09907,EAX09908,EAX09909,EAX09910,CAC80546,AAA52568,AAA95961,P39086,Q9UNN1,AAI52728,AAI56976,Q71UA3 Hs.706747 GDB:131462 EAA3|EEA3|GLR5|GLUR5 protein-coding 733691 GRIK2 glutamate receptor, ionotropic, kainate 2 This gene encodes a subunit of a kainate glutamate receptor. Glutamate receptors mediate the majority of excitatory neurotransmission in the brain. This receptor may have a role in synaptic plasticity and may be important for learning and memory. It also may be involved in the transmission of light information from the retina to the hypothalamus. The structure and function of the encoded protein is changed by RNA editing. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. 1358638,704404,1580863 15537878,7536611,17428563,17379418,17167233,16959037,15305151,15094479,14567698,12954862,12821179,12597860,7696618,7675232,12573530,12477932,12151522,12070168,11920157,11744724,11675011,11279111,11276111,10358037,9808460,9651532,9466455,9108071,9099808,8889548,8618850,8288598,8188697,8163463,8094892,8034316,7523595 1358638 2898 BQ717946,S75105,U16126,BC063814,BM722353,NM_175768,NM_021956,AL109919,AL355532,AL357058,AP002528,AP002529,AP002530,CH471051,AJ252246,AJ301608,AJ301609,AJ301610,AK289542,AW949408,BC037954 AAC50420,Q13002,Q6P3V6,Q8IY40,Q9BZ15,AAH37954,AAH63814,NP_786944,NP_068775,CAC25104,EAW48446,EAW48447,EAW48448,CAC81020,CAC67485,CAC67486,CAC67487,BAF82231 Hs.98262,Hs.654523 GDB:131461 EAA4|GLR6|GLUR6|MGC74427 protein-coding 735713 GRIK3 glutamate receptor, ionotropic, kainate 3 Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. 1580863 15897672,15094479,11986986,11943148,10737800,9466455,8163463,8128318,7719709,11124978,18423838,17213182,16958029,16356644,16325263,16314883 2899 NM_000831,AC117945,AJ308525,AJ308526,AL355386,AL591883,CH471059,S69349,U16128,AJ249210,AJ299451,AW898512,BG057125,BG818719,BI544689,BQ446793,DR003075,DT217951,U16127 NP_000822,CAC40655,CAC40656,CAC40657,EAX07350,EAX07351,AAB30157,AAC50421,CAC80548,CAC44965,AAB60407,Q13003,Q5T646,Q96QG5,Q96SC0,Q96SC1,Q96SC2,Q96SG0,AAI56722 Hs.128848 GDB:229949 EAA5|GLR7|GLUR7|GluR7a protein-coding 733741 GRIK4 glutamate receptor, ionotropic, kainate 4 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. 1580863 8263508,18289755,16819533,16325263,12954862,12477932,11334999,8288598,7527545 2900 NM_014619,AP000796,AP001929,AP002348,AP004147,CH471065,AK292726,BC146652,BC150173,S67803 NP_055434,EAW67511,EAW67512,BAF85415,AAI46653,AAI50174,AAB29311,Q16099 Hs.568901 GDB:204059 EAA1|GRIK|KA1 protein-coding 730907 GRIK5 glutamate receptor, ionotropic, kainate 5 This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. 734533,1358334,1580863 1321949,16325263,15254951,14511640,12573530,12477932,11279111,9808460,9466455,9099808,9039653,7527545 734533,1358334 2901 NM_002088,AC010616,AC020946,AC022515,CH471126,AJ249209,BC037358,BC052975,BC131717,S40369 NP_002079,EAW57090,EAW57091,CAC80547,AAB22591,Q16478,Q8WWG8 Hs.367799 GDB:229917 EAA2|GRIK2|KA2 protein-coding 731784 GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described. 727540,704404,1580863,1642190,1642372 7679115,7685113,17047094,10480938,10749211,18182392,18068304,17728671,17284422,17255096,16969270,16767099,16476413,16332682,16289038,16272960,16189506,16140270,15888440,15841096,15635650,15564900,15531111,15448144,15265015,15030493,15030408,14973229,14970236,14732708,14644469,14575242,14573320,12893641,12775422,12753088,12746393,12707933,12679240,12646920,12610658,12414113,12408866,12363394,12210277,12191494,12082569,12068077,11803122,11754835,11606043,11588171,11506858,11483648,11160393,11140838,11136979,11109007,10862698,10518580,10197777,10049997,9952395,9835392,9728925,9670010,9651389,9620802,9502803,9482789,9425014,9231706,9030583,9009191,8783260,8768735,15338240,8625412,8406459,8406025,8316301,8139656,7926821,7695237,7681588,7622053,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129,15069201,11279200,15721239 727540,1642190,1642372 2902 AF015731,D13515,L05666,L13266,L13267,L13268,S57708,U08106,U08107,NM_021569,NM_007327,NM_000832,AL929554,CH471090,AB208918,AB208999,AF015730 AAB67723,AAB67724,BAA02732,AAA21180,AAB59360,AAA36198,AAB59361,AAB25917,AAA62111,AAA62112,Q05586,Q59GW0,Q59H41,Q5VSF3,Q5VSF4,Q5VSF5,Q5VSF6,Q5VSF7,Q5VSF8,Q5VSF9,Q9UPF8,Q9UPF9,AAI56098,AAI56962,NP_015566,NP_067544,NP_000823,CAH72873,CAH72874,CAH72875,CAH72876,CAH72877,CAH72878,CAH72879,EAW88350,EAW88351,EAW88352,EAW88353,EAW88354,EAW88355,EAW88356,EAW88357,EAW88358,EAW88359,EAW88360,BAD92155,BAD92236 Hs.558334 GDB:134707 NMDA1|NMDAR1|NR1 protein-coding 732269 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). 1358644,734740,704404,1580863,1642190,1642204,1642198,1642207 14702039,14699423,14644469,12956718,12933808,12932824,12893641,12890763,12775422,12724619,12697264,12531901,12477932,12419528,12414113,12391275,12191494,12147342,12127670,12082569,12070168,12068077,12008020,11985816,11937501,11854440,11803122,11675505,11606043,11483648,11478920,11222640,11104776,10884433,10862698,10846184,10748123,10648730,10479680,8768735,7816096,10480938,18178157,17942280,17569088,17519952,17255096,17105731,17081983,17018562,17011703,16637659,16476413,16266783,15888440,15830322,15774266,15742215,14966475,14732708,10458595,10336672,10197777,10195142,9651389,9647694,9480759,9286858,9231720,8601796,8267632,8163463,8139656,8061049,7695237,7569905,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129,12923170,15681389,11279200 1358644,734740,1642190,1642204,1642198,1642207 2903 NM_000833,AC006531,AC007218,AC022168,AC026423,AC133565,AF443868,CH471112,AB209695,AK124698,BC117131,CR749843,U09002,U90277 NP_000824,AAN75825,EAW85187,BAD92932,AAI17132,AAB60343,AAB49992,Q12879,Q17RZ6,Q547U9,Q59EW6 Hs.411472,Hs.567280 GDB:134708 NMDAR2A|NR2A protein-coding 731079 GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA receptor channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of three different subunits: NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The NR2 subunit acts as the agonist binding site for glutamate. This receptor is the predominant excitatory neurotransmitter receptor in the mammalian brain. 727540,704404,1580863,1642197,1642200,1642201,1642204,1642207,1642190,1642372 8768735,17047094,10485705,10480938,18303265,18007143,17942280,17669510,17620329,17569088,17506987,17255096,17224684,17010153,16911840,16870468,16766085,16549338,16436603,16380905,16289038,16266783,16120608,15866054,15841096,15812607,15742215,15673434,15542698,15489334,15211626,15180478,15083261,15030493,14662797,14644469,14573320,12893641,12890763,12857875,12824739,12775422,12753378,12738960,12650977,12556902,12531901,12524444,12477932,12476325,12414113,12391275,12191494,12147342,12127670,12082569,11997254,11979061,11956967,11937501,11844890,11807413,11799243,11679592,11606043,11588171,11483655,11483648,11459059,11317224,11306676,11029657,16697675,16489129,15721239,10884433,10846184,11024032,10748157,10620012,10488080,10479680,10458595,10381539,10341223,10197777,9806853,9651389,9647694,9620694,9581762,9547169,9427503,9326658,9231720,9009191,8940188,8780649,8601796,8163463,8139656,7999784,7959773,7695237,7569905,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977 727540,1642197,1642200,1642201,1642204,1642207,1642190,1642372 2904 AC007397,AC007535,AC007784,AC007916,CH471094,AB208850,BC113618,BC113620,U11287,U28758,U28861,U28862,U88963,U90278,NM_000834 NP_000825,EAW96311,BAD92087,AAI13619,AAI13621,AAB60368,AAA74930,AAA69919,AAA69920,AAD00659,AAB49993,Q13224,Q59HA9 Hs.654430 GDB:134710 MGC142178|MGC142180|NMDAR2B|NR2B|hNR3 protein-coding 736076 GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). 704404,1580863 9798920,18444252,14644469,12775422,12477932,12414113,12082569,11937501,11606043,11483648,10479680,10197777,9651389,9647694,9480759,9037519,8267632,7695237,7569905,1350383,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16697675,16489129 2905 NM_000835,AC068874,CH471099,AB208799,BC031077,BC041128,BC059384,BC140801,L76224,U77782 NP_000826,EAW89202,EAW89203,EAW89204,BAD92036,AAH31077,AAH41128,AAH59384,AAI40802,AAA88096,AAB71624,Q14957,Q59HF9,Q6PCC5,Q8IW23 Hs.436980 GDB:134712 NMDAR2C|NR2C glutamate receptor, ionotropic, nmda2c protein-coding 732718 GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). 1580863,737806 9480759,18444252,16328341,8724036,8581564,8563977,16697675,16489129,16094258,14644469,12775422,12414113,12191494,12082569,11606043,11483648,10862698,10777567,10479680,10216082,10197777,9651389,9647694,9489750,9418891,9258910,8613785,7695237,7569905,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048 737806 2906 NM_000836,AB007621,AC008403,AC011527,CH471177,AB209292,AW139866,U77783 NP_000827,EAW52346,BAD92529,AAC15910,O15399,Q59G17 Hs.445015 GDB:204057 EB11|NMDAR2D protein-coding 733376 GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. 1642190 18075478,17997397,17617428,17214563,17047094,14760703,14684485,14644469,12775422,12477932,12414113,12391275,11880201,11853319,11735224,11606043,11588171,11483648,11160393,10197777,9651389,9620802,7695237,7569905,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16489129 1642190 116443 NM_133445,AL356516,AL591377,CH471105,AB075853,AF416558,AJ416950,AK127342,AL137422,AL359651,BC029757,BC132866,BC132868 NP_597702,CAH69962,EAW58958,EAW58959,EAW58960,BAB85559,AAL40734,CAC95229,AAI32867,AAI32869,Q5VTR3,Q8TCU5 Hs.654783 GDB:11508393 FLJ45414|NMDAR-L|NR3A protein-coding 1353575 GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 1580863,632842 17687115,17543277,15722182,15057824,11735224,11717388,8889548,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977,16489129,14644469,12775422,12414113,11606043,11483648,10197777,9651389,7695237,12008020,7569905 632842 116444 CH471139,AY507106,NM_138690,AC004528,AX223863,AY507107,BK000070,BK004079,CB243197 EAW69576,NP_619635,AAC12680,CAC69380,AAS87020,AAS87021,DAA00018,DAA04570,O60391,Q5F0I4,Q5F0I5,AAI56391 Hs.660378 GDB:11508395 NR3B protein-coding 1606337 GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 16341674,12761501,12477932,8786101,8406459,1719427,16481105,10555109,9745929,15749123,10448428,8955056,8845955,8822372,8821747,8804048,8724036,8581564,8563977 2907 NM_000837,NM_001009184,AC109322,CH471416,AB097026,AK127640,AL157442,BC041788,BC065834,BC084553,BM762447,BQ682451,U44954 NP_000828,NP_001009184,EAW52304,EAW52305,EAW52306,BAC77379,CAB75662,AAH41788,AAH84553,AAB94292,Q7Z429,Q9NSR8 Hs.594634 GDB:136261 HNRGW|MGC99687|NMDARA1|TMBIM3 protein-coding 731440 GRINL1A glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A This gene (GRINL1A) is part of a complex transcript unit that includes the gene for GRINL1A combined protein (Gcom1). Transcription of this gene occurs at a downstream promoter, with at least three different alternatively spliced variants, grouped together as Gdown for GRINL1A downstream transcripts. The Gcom1 gene uses an upstream promoter for transcription and also has multiple alternatively spliced variants. 11256614,17361039,17317662,16381901,16189514,16112646,15489336,15233991,12477932,11474202,11076863,9373149,8125298 81488 NM_015532,NM_001018102,NM_001018103,AC090651,CH471082,CQ783776,AF086209,AF326773,AK074767,AK074955,AK128618,AK223571,AL050091,AY339380,AY341344,AY353061,BC001510,BC050322,BI833260,BQ072611,CR600323,CR618518 NP_056347,NP_001018112,NP_001018113,EAW77525,EAW77527,CAF86856,AAK92284,BAC11193,BAC11313,BAC87533,BAD97291,CAB43263,AAQ82540,AAQ76830,AAQ76837,AAH01510,Q53ER8,Q6EEV4,Q9Y3V6,CAL37599,ABM83961,ABM87275 Hs.437256 GDB:11506109 DKFZp586F1918 glutamate receptor, ionotropic protein-coding 1347865 GRINL1B glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B 1580863 12063407 84534 AF326970 AAG50023,Q9BZD3 GDB:11508795 GLURR2 protein-coding 1345662 GRIP1 glutamate receptor interacting protein 1 632959,1580863 15572661,10197531,18155042,17303296,16649994,16541075,16344550,15557560,15226318,14702039,12477932,12114525,12060666,12011465,11641419,12597860,10607837,11891216,11477071,12571287 632959 23426 NM_021150,AC022508,AC078888,AC078889,AC090710,AC122686,AC135251,AJ133439,AK095519,BC029871,BC115393,BC115394 NP_066973,CAB39895,AAI15394,AAI15395,Q1RLM0,Q9Y3R0 Hs.505946 GDB:9956543 GRIP protein-coding 1354510 GRIP2 glutamate receptor interacting protein 2 1580863 14702039,12168954,11641419,11214971,11214970,10574462,9110174,8619474,12629171,12923177,10896157,9768844,10197531,9883737,12458226 80852 AK024507,NM_001080423,AC090952,AB051506,AF052177,AK074145,AK095762 NP_001073892,BAB21810,BAB15797,BAB84971,Q9C0E4 Hs.517819 protein-coding 732724 GRIPAP1 GRIP1 associated protein 1 GRASP1 is a neuron-specific guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF) and is associated with the GRIP/AMPA receptor complex in brain (Ye et al., 2000 [PubMed 10896157]).[supplied by OMIM] 632892 11230166,10896157,10574461,17761173,15897011,15772651,15761153,15507123,15489334,12571287,12477932,12207967,11891216,11704662 632892 56850 CD109978,NM_020137,NM_207672,AF207550,BX530088,CH471224,AA679202,AB032993,AJ297364,AK292158,AL136847,BC001522,BC101544,BC101546,BC110636,BX640704,BX647801,BX647804 CAI45985,Q4V328,Q4V329,ABM83652,ABW03542,NP_064522,NP_997555,CAI95785,CAI95786,CAI95787,EAW50715,EAW50716,EAW50717,EAW50718,EAW50719,BAA86481,CAB95949,BAF84847,AAH01522,AAI01545,AAI01547,CAE45824 Hs.109929 GDB:11506111 DKFZp434P0630|GRASP-1|KIAA1167|MGC126593|MGC126595 grip-associated protein 1 protein-coding 1345543 GRK1 G protein-coupled receptor kinase 1 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). 1580863,1600000,1600001,1600002,1600004 9478965,1656454,9147475,9020843,17765441,17524610,17070587,16478881,16407241,16319817,15946941,12939331,11910029,11717351,11498053,11394879,10085129,9753452,9501174,9419375,9268593,9099669,8889548,8812493,8617805,1527025 1600000,1600001,1600002,1600004 6011 NM_002929,AF019764,AF019765,AY327580,BX537316,CH471085,L77502,AK289912,BM702747,BX647503,L77503,U63973 NP_002920,AAC97160,AAC97161,AAQ94192,EAX09222,AAT00534,BAF82601,AAG50439,AAB05929,O95098,Q15835,Q53X14,Q6VTF2,Q71VB6 Hs.103501 GPRK1|RHOK|RK protein-coding 1606583 GRK4 G protein-coupled receptor kinase 4 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. 17044852,16940246,16636198,16461192,16338988,15815621,15489334,15097232,12881416,12477932,12446468,12164861,11517230,10379886,9373149,9092566,8889548,8626439,8135832,8125298,1338872,18413491,18190783,17259440 2868 NM_001004057,NM_001004056,AL390065,CH471131,L03718,U33168,Z68192,NM_182982,AK223581,AK292390,BC027597,BC117320,BI465220,BM725978,U33054,U33055,U33056,X75897,X97879,X97880,X97881,X98118 NP_892027,NP_001004057,NP_001004056,EAW82479,EAW82480,EAW82481,EAW82482,EAW82483,EAW82484,EAW82485,AAB04045,AAC50409,AAC50410,AAC50411,AAC50412,CAA92341,BAD97301,BAF85079,AAI17321,AAC50406,AAC50407,AAC50408,CAA53506,CAA66468,CAA66469,CAA66470,CAA66802,P32298,Q53EQ8 Hs.32959 GPRK2L|GPRK4|GRK4a|IT11 protein-coding 1348499 GRK5 G protein-coupled receptor kinase 5 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). 1580863 9813065,17986524,8626574,8288567,7685906,18425130,16849637,15542828,15489334,15146197,14976207,14691047,12507501,12477932,12067742,11700307,11517230,11504827,10858434,10852916,10617630,10467231,10085129,9826657,8889548,8662852,8662816,8144599,7789183 2869 NM_005308,AL355273,AL355861,AL583824,CH471066,BC018116,BC064506,BC114448,BQ184611,CN290123,L15388 NP_005299,CAI15804,CAI16759,EAW49393,EAW49394,EAW49395,AAH64506,AAI14449,AAA58620,P34947,Q24JT8,Q5T5V0 Hs.524625 GPRK5 protein-coding 1350771 GRK6 G protein-coupled receptor kinase 6 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. 1580863 8077221,17538017,17081983,16613860,15498832,15489334,14702039,12552191,12507501,12477932,12077128,12007830,11856737,11517230,11504827,10861009,10852916,10506199,10467231,10446210,10379886,10334944,9826657,9819198,9341194,9211925,8415712,8366096,7961702,7789183,16189514 2870 NM_002082,NM_001004106,NM_001004105,AC145098,CH471195,AF040751,AF040752,AK056697,BC009277,BC017272,BE965975,BI258860,BU507609,BX382886,CR594106,CR619325,CR621714,L16862,U00686 NP_002073,NP_001004106,NP_001004105,EAW84997,EAW84998,EAW84999,EAW85000,EAW85001,AAC09273,AAC09274,AAH09277,AAH17272,AAA60175,AAA03565,P43250,Q96AD6 Hs.235116 FLJ32135|GPRK6 protein-coding 1344318 GRK6PS G protein-coupled receptor kinase 6 pseudogene 9016947,7789183 2871 NG_001133,AL139380,U48958 GPRK6L|GPRK6P pseudo 1347561 GRK7 G protein-coupled receptor kinase 7 This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. 1580863 15946941,15087239,12601058,11754336,11717351 131890 NM_139209,AC112504,CH471052,AF282269,AF439409 NP_631948,EAW78990,AAL33880,AAL48216,Q8WTQ7,AAI48328,AAI52978 Hs.680654 GPRK7 protein-coding 1603059 GRLF1 glucocorticoid receptor DNA binding factor 1 The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. 1894621,18282590,17562701,17081983,16341674,16308318,16210701,16188938,15592455,15302935,14702039,12477932,12168954,11214970,11054565,8702520 2909 NM_004491,AC008755,AC008895,CH471126,AB051509,AF159851,AK096123,AK097314,AL831914,BC003514,BC065491,BC131565,BC150257,BE871213,BM855708,CA429690,CX163309,M73077 NP_004482,EAW57450,EAW57451,EAW57452,EAW57453,BAB21813,AAF80386,AAH03514,AAI31566,AAI50258,AAA58618,Q9BTR0,Q9NRY4 Hs.509447 GDB:128782 GRF-1|KIAA1722|MGC10745|P190-A|P190A|p190RhoGAP protein-coding 736303 GRM1 glutamate receptor, metabotropic 1 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. The canonical alpha isoform of the metabotropic glutamate receptor 1 gene is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which may have distinct functions. 704404,1580863 7476890,9076744,18059092,17609672,17430891,17332361,16091361,15949941,15945063,15870073,15745950,15660124,15466247,15383311,15330338,15184389,15155843,14574404,12704387,12477932,12444084,11961143,11961129,11951051,11905408,11850456,11847215,11535235,11278325,11076863,10945991,10828618,10823959,10530810,10349865,10202136,9886087,9808459,9808458,9651375,9582347,9488690,9376535,9069287,8824806,16697675,16489129,14614461 2911 NM_000838,NM_001114329,AL031769,AL035698,AL096867,AL592423,CH471051,AB208837,AK308550,L76627,L76631,U31215,U31216 NP_000829,NP_001107801,CAI22468,CAI22469,CAI20335,CAI20336,EAW47834,EAW47835,BAD92074,AAB05337,AAB05338,AAA87843,AAA87844,Q13255,Q59HC2,AAI11845 Hs.32945 GDB:230100 GPRC1A|GRM1A|MGLUR1|MGLUR1A|mGlu1 protein-coding 732930 GRM2 glutamate receptor, metabotropic 2 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. 1580863,704404 7620613,18297054,16678921,15837331,15489334,15330338,15246118,12477932,11897108,11860506,11840499,11641422,11317221,9651375,8863838,8824806,15035981 2912 NM_000839,AB045011,AC099050,CH471055,AK289984,AK315816,AY999299,BC041447,BC113615,BC113619,BX648951,EU432122,L35318,AB209164 NP_000830,BAB19817,EAW65150,BAF82673,BAF98707,AAY14640,AAH41447,AAI13616,AAI13620,ABY87921,AAA76855,Q14416,Q59GE5,Q86YG3,BAD92401 Hs.121510 GDB:230101 GLUR2|GPRC1B|MGLUR2|mGlu2 protein-coding 732815 GRM3 glutamate receptor, metabotropic 3 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. 1580863 8840013,18197082,18075480,17948896,17684500,17636131,17531207,17006672,16904291,16585454,16417579,16380905,15913960,15892884,15652990,15567072,15489334,15310849,15246118,15178451,15158450,14663150,12853948,12786977,12782962,12690205,12477932,11891216,11850456,11840505,11744707,11535235,11500049,11342382,8887960,8824806 2913 AC002081,AC004829,AC005009,CH236949,CH471091,AK291406,BC022496,BC041407,DQ315361,DQ315362,DQ315363,EU432123,X77748,NM_000840 CAA54796,Q14832,Q2PNZ6,ABM83322,ABM84213,ABM87618,NP_000831,AAC60379,AAD15616,EAL24182,EAW76971,EAW76972,BAF84095,AAH22496,AAH41407,ABC47402,ABY87922 Hs.590575 GDB:230102 GLUR3|GPRC1C|MGLUR3|mGlu3 protein-coding 731311 GRM4 glutamate receptor, metabotropic 4 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. 1580863,704404 9473604,15102938,8738157,17884634,16899734,16582932,16380905,15867225,15217955,15184361,14702039,14574404,11994312,11943148,11847215,11801738,11525421,10828590,10779504,8863838,8824806,7617140 2914 AAB34891 NM_000841,AL590403,CH471081,AB209104,AK122836,AK122982,AK126746,AK131536,AK289524,AK289534,AK289563,BC130526,BC130528,EU432124,U92457,X80818 NP_000832,CAI17348,EAX03759,EAX03760,BAD92341,BAD18673,BAF82213,BAF82223,BAF82252,AAI30527,AAI30529,ABY87923,AAB51762,CAA56784,AAB34891,Q14833,Q59GK5,Q6ZMQ2 Hs.654847 GDB:230103 GPRC1D|MGLUR4|mGlu4 protein-coding 730960 GRM5 glutamate receptor, metabotropic 5 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternative splice variants of GRM8 have been described but their full-length nature has not been determined. 1580863 7908515,18182392,17998106,17627080,17311919,15894802,15184389,15158450,15076751,14561742,12786977,12783878,12531526,12531512,12119301,11326300,8532169,7688218,9651375,11943148,11953448,9242710,9069287,9808458,12736269 2915 NM_000842,AP000626,AP001828,AP003120,AP006214,AP006215,CH471185,AK291362,AY608336,D28538,D28539,S64316 NP_000833,EAW59358,EAW59359,BAF84051,AAT37960,BAA05891,BAA05892,AAD13954,P41594,Q6J164 Hs.147361 GDB:230104 GPRC1E|MGLUR5|MGLUR5A|MGLUR5B|mGlu5 protein-coding 70075 GRM6 glutamate receptor, metabotropic 6 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. 1580863,704404 9215706,18195715,17405131,16249515,15781871,11179672,11124982 2916 NM_000843,AB065467,AC104117,CH471165,U82083,AJ245871,AJ245872,BX647168 NP_000834,BAC05726,EAW53821,AAB82068,CAB65106,CAB65107,O15303,Q5HYM4,Q8NHA9,Q9UGK1,Q9UGK2,CAI46028 Hs.248131 GDB:230105 CSNB1B|DKFZp686H1993|GPRC1F|MGLUR6|mGlu6 protein-coding 1603058 GRM7 glutamate receptor, metabotropic 7 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternative splice variants of GRM8 have been described but their full-length nature has not been determined. 12052533,9473604,18329248,17167337,14702039,11953448,11943148,11912074,11891216,11163549,11007882,8824806,8288585,10828612,10550060,10488094,9144652,8840028 2917 NM_181874,NM_000844,AC023485,AC026199,AC026204,AC027121,AC034194,AC066585,AC066606,AC068313,AC077690,CH471055,AB209214,AI701722,AK097817,AW511101,X94552 NP_870989,NP_000835,EAW63933,EAW63934,EAW63935,BAD92451,CAA64245,Q14831,Q59G95 Hs.606393,Hs.660131 GDB:666408 FLJ40498|GLUR7|GPRC1G|MGLUR7|mGlu7 protein-coding 1350769 GRM8 glutamate receptor, metabotropic 8 L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1358645,1580863 9473604,11166323,18195715,17955477,17684544,17167337,16144832,15489334,15211621,12477932,11943148,11912074,11329013,10216218,9299241,8824806 1358645 2918 AC000363,AC000364,AC000365,AC000366,AC000367,AC000369,AC000370,AC000373,AC000374,AC002048,AC002057,AC002063,AC002083,AC002084,AC002113,AC002114,AC002496,AC002497,AC002533,CH236947,CH471070,CS223369,AJ236921,AJ236922,AK123053,AK290197,AK315203,AY608335,BC093725,BC101675,BG202742,BG211606,EU432125,AC000361,AC000362,U92459,U95025,NM_000845,NM_001127323,NM_001127326,AC000099,AC000354,AC000355,AC000356 EAL24322,EAW83621,EAW83622,EAW83623,EAW83624,CAJ46924,CAB36968,CAB36969,BAF82886,AAT37959,AAH93725,AAI01676,ABY87924,AAB51764,AAB72040,O00222,Q99997,NP_000836,NP_001120795,NP_001120798,AAB46348 Hs.449625 GDB:666410 FLJ41058|GLUR8|GPRC1H|MGC126724|MGLUR8|mGlu8 protein-coding 1345254 GRN granulin Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. 1580863 1542665,18413474,18413467,18392865,18378771,18359860,18322394,18245784,18234697,18192287,18184915,18166610,18157829,17984093,17826340,17698705,17620546,17572900,17522386,17458552,17439980,17436289,17417739,17383054,17371905,17353379,17345602,17291356,17278999,17266030,17261172,17228326,17210807,17202431,17166276,17157414,16983685,16983677,16950801,16862116,16862115,16857791,16713569,16533762,16189514,15653695,15569995,15489334,15231748,14977833,14702039,14652816,12931033,12914763,12900424,12588988,12538450,12526812,12477932,12031912,11846389,11549288,11068878,10728698,10715107,10477733,10397269,10079180,9826678,9373149,9110174,8912679,8619474,8496151,8471426,8471244,8125298,2268320,1618805,1417868 2896 CR590771,CR591645,CR592712,CR594600,CR594708,CR601091,CR602616,CR604991,CR606406,CR613011,CR616538,M75161,X62320,NM_002087,NG_007886,AC003043,CH471178,AF055008,AK000607,AK023348,AK222522,AY124489,BC000324,BC010577,BT006844 AAP35490,AAA58617,CAA44196,P28799,Q53HQ8,Q53Y88,Q540U8,Q9H8S1,NP_002078,EAW51599,EAW51600,EAW51601,AAC09359,BAB14535,BAD96242,AAM94026,AAH00324,AAH10577 Hs.514220 GDB:136006 GEP|GP88|PCDGF|PEPI|PGRN protein-coding 737598 GRP gastrin-releasing peptide This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. Its preproprotein, following cleavage of a signal peptide, is further processed to produce either the 27 aa gastrin-releasing peptide or the 10 aa neuromedin C. These smaller peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 8756537,3027901,18452185,16920698,16909108,16641105,15899028,15849504,15750618,15664365,15638385,15489334,15203211,14764456,13679857,12820319,12820318,12477932,12474049,11960700,11906707,11696365,11278902,10657515,8137267,8008632,7838118,6207529,3211139,3027902,3003116,3001723,1557184 2922 NM_002091,NM_001012512,NM_001012513,AC067859,CH471096,M12511,M12512,AB102889,BC004488,BT006803,CK903483,K02054,M12550,W01859 NP_002082,NP_001012530,NP_001012531,EAW63091,EAW63092,AAA52610,AAA52611,AAA52612,BAD89418,AAH04488,AAP35449,AAA52613,Q53YA0,Q5FBX9,Q6LDX5,ABM84377,ABM87222,P07492 Hs.153444 GDB:119284 BN|GRP-10|preproGRP|proGRP protein-coding 1345534 GRPEL1 GrpE-like 1, mitochondrial (E. coli) 1580863 11311562,15489334,12840016,12477932,9110174,8619474 80273 NM_025196,AC097382,CH471131,AF070525,AF087896,AF298592,AK098475,BC024242,CR601403,CR621363,CR622705 NP_079472,EAW82370,EAW82371,AAP97195,AAG31605,AAH24242,Q9HAV7,ABM82449,ABM85639 Hs.443723 FLJ25609|HMGE protein-coding 1342740 GRPEL2 GrpE-like 2, mitochondrial (E. coli) 1580863 15489334,14702039,12477932,9694873 134266 NM_152407,AC131025,CH471062,AK074293,AK091237,AK096445,AL704536,AL832325,BC036678,BC070090 NP_689620,EAW61786,BAB85040,BAC03618,CAD38619,AAH36678,AAH70090,Q8N252,Q8N3S0,Q8TAA5 Hs.511816 DKFZp451C205|FLJ23713|FLJ33918|Mt-GrpE#2 protein-coding 731959 GRPR gastrin-releasing peptide receptor Gastrin-releasing peptide (GRP) regulates numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation and is a potent mitogen for neoplastic tissues. The effects of GRP are mediated through the gastrin-releasing peptide receptor. This receptor is a glycosylated, 7-transmembrane G-protein coupled receptor that activates the phospholipase C signaling pathway. The receptor is aberrantly expressed in numerous cancers such as those of the lung, colon, and prostate. An individual with autism and multiple exostoses was found to have a balanced translocation between chromosome 8 and a chromosome X breakpoint located within the gastrin-releasing peptide receptor gene. 1580863 7838118,1655761,8391296,18452185,17726264,17349623,16344560,15967120,15941862,15489334,15361544,14747448,14729406,12771999,12720295,12526815,12477932,12474049,12409226,12220644,11960700,11245983,10620630,9674911,9259269,8406441,7759104 2925 AAB27329 NM_005314,AC004025,AC078993,AF293321,AF293322,AF293323,CH471074,AU125660,BC074733,M73481,U57365 NP_005305,AAL96377,EAW98909,AAH74733,AAA88050,AAB40612,AAB27329,P30550,Q99642 Hs.567282 GDB:128035 protein-coding 1602464 GRRP1 glycine/arginine rich protein 1 16344560,14702039,12477932 79927 NM_024869,AL391650,CH471059,AK024112,AK290715,AU119858,BC025658,CR594191,CR612361 NP_079145,CAI17136,EAX07844,BAB14829,BAF83404,AAH25658,Q8TAY7 Hs.694119 FLJ14050|RP11-96L14.5 protein-coding 1322002 GRSF1 G-rich RNA sequence binding factor 1 The protein encoded by this gene is a cellular protein that binds RNAs containing the G-rich element. The protein is localized in the cytoplasm, and has been shown to stimulate translation of viral mRNAs in vitro. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 8036161,14702039,12477932,12239318,10359774,8751379 2926 AK127161,AV739732,BC040485,BC043201,CR598934,CR623192,DN990192,U07231,NM_002092,NM_001098477,AC021989,CH471057,AI151431,AK023187,AK055499,AK056891,AK090755,AK094806,AK095799,AK097055,AK124124,AK124242 BAC86863,AAH40485,AAC95399,Q12849,Q4W5S5,Q8IWD6,NP_002083,NP_001091947,AAY40942,EAX05631,EAX05632,EAX05633,EAX05634,BAC03513 Hs.309763 GDB:696354 FLJ13125 protein-coding 1319426 GRTP1 growth hormone regulated TBC protein 1 12477932,8889548 79774 AL136221,CH471085,CS300716,AK026127,BC033071,BC062461,BC080640,BC112123,BC112125,CB242314,NM_024719,CR595430,CX788865 NP_078995,CAI13799,CAI13800,EAX09204,EAX09205,EAX09206,CAK32380,BAB15368,AAH33071,AAH62461,AAH80640,AAI12124,AAI12126,Q5TC63 Hs.170904 FLJ22474|MGC138328|MGC138330|TBC1D6 protein-coding 1344190 GRWD1 glutamate-rich WD repeat containing 1 GRWD1 is a component of the 50S and 80S preribosomal complexes and plays a role in ribosome biogenesis (Gratenstein et al., 2005 [PubMed 15885502]).[supplied by OMIM] 1580863 17081983,17041588,15885502,15635413,15489334,12549820,12477932,12429849,11853319,14743216 83743 NM_031485,AC008403,CH471177,CQ783568,AB075822,AF337808,AK074676,AK131055,AL713729,BC002440,BC036281,BC047351,CR616744,EF011614 NP_113673,EAW52347,CAF86737,BAB85528,AAK17998,BAC11130,CAD28519,AAH02440,ABK41104,Q8NCK5,Q8TCJ8,Q8TF59,Q9BQ67,ABM83556,ABM86794 Hs.400625 GRWD|KIAA1942|RRB1|WDR28 protein-coding 736937 GSC goosecoid homeobox This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. 704404 7916327,18074379,17142318,15761153,15489334,15014966,12642491,12477932,9417125 145258 NM_173849,AL121612,CH471061,AY177407,BC063580 NP_776248,EAW81594,AAO18645,AAH63580,P56915 Hs.440438 GDB:251683 protein-coding 1313301 GSC2 goosecoid homeobox 2 Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. 1580863 9441739,9150167,10822263,9700206 2928 NM_005315,AC004463,CH471176,U96402 NP_005306,EAX03052,AAC39544,O15499 Hs.534318 GDB:6276021 GSCL protein-coding 1347779 GSDM1 gasdermin 1 17471240,15010812,14702039,12883658,12477932,10967128 284110 NM_178171,AC090844,CH471152,AA826386,AB093591,AF307953,AK096439,BC109197 NP_835465,EAW60624,BAC75636,AAL14426,BAC04790,AAI09198,Q96QA5 Hs.448873 FKSG9|FLJ39120|GSDM|GSDMA|MGC129596 protein-coding 1351273 GSDM2 gasdermin 2 432402 1344122 GSDM3 gasdermin 3 432403 1316349 GSDMDC1 gasdermin domain containing 1 737633 16421571,15592455,15489334,15289881,14702039,12477932 737633 79792 NM_024736,AC067930,CH471162,AF318341,AK022212,AK093858,AK096216,AK123985,AK127941,AK291817,AY008304,BC008904,BC069000,CR591078,CR596587,CR600090,CR602447,CR602948,CR603320,CR604130,CR613262,CR616645,CR617523,CR621325,CR623742 NP_079012,EAW82242,EAW82243,EAW82244,EAW82245,EAW82246,EAW82247,EAW82248,AAL55848,BAB13986,BAC87201,BAF84506,AAG22861,AAH08904,AAH69000,P57764,Q6ZRV8,Q8WYV7 Hs.118983 DF5L|FKSG10|FLJ12150 protein-coding 1346441 GSDML gasdermin-like 18038310,15342556,15010812,14702039,12883658,12477932,11483580 55876 NM_018530,AC090844,CH471152,AF119884,AF258572,AK000409,AK057588,BC025682,BP366854,BX538068,BX647700,CA488357,CB136981,EU526753,NM_001042471,EU526754,EU526755,EU526756 NP_001035936,NP_061000,EAW60612,EAW60613,EAW60614,EAW60615,AAF69638,AAG23775,BAA91146,AAH25682,CAD97998,ACB37349,ACB37350,ACB37351,ACB37352,Q8TAX9 Hs.306777 GSDMB|PP4052|PRO2521 protein-coding 1315222 GSG1 germ cell associated 1 16344560,16303743,14702039,12975309,12477932,11181995,9337410 83445 NM_001080555,NM_031289,NM_153823,AC023790,AC079628,CH471094,CQ783930,AK027894,AK058045,AK075288,AK075311,AK075322,AW959540,AY358513,BC001796,BC033854,BC112896,NM_001080554,BG721146,BI827923,BI830401,DA370135 NP_001074023,NP_001074024,NP_112579,NP_722545,EAW96299,EAW96300,EAW96301,EAW96302,EAW96303,CAF86930,BAB55437,BAB71638,BAC11524,BAC11540,BAC11548,AAQ88877,AAH01796,AAH33854,AAI12897,Q2KHT4,ABM83007,ABM86200 Hs.240053 MGC111023|MGC3146 protein-coding 1604995 GSG1L GSG1-like 16344560,15489335,12975309,12477932 146395 NM_001109763,NM_144675,AC008732,AC009030,AC130449,CH471145,AI418246,AK128775,AY302134,AY358206,BC016460,CV024949,DB306756 NP_001103233,NP_653276,EAW55740,EAW55741,EAW55742,AAP57626,AAQ88573,AAH16460,Q6UXU4,ABM84515,ABM85880 Hs.91910 MGC18079|PRO19651 protein-coding 1353091 GSG2 germ cell associated 2 (haspin) 1580863 11228240,17084365,16565220,15681610,15489334,14702039,12477932,11311556 83903 NM_031965,AC116914,CH471108,AB039834,AF289865,AK056691,AK292715,BC016626,BC036181,BC047457,BC050662,CR615999 NP_114171,EAW90481,BAB21938,AAK30300,BAB71255,BAF85404,AAH16626,AAH47457,Q8TF76 Hs.534059 HASPIN protein-coding 1353864 GSK1 glycogen synthase kinase 1 2929 GDB:6108054 1345279 GSK2 glycogen synthase kinase 2 2930 GDB:6108055 731783 GSK3A glycogen synthase kinase 3 alpha Glycogen synthase kinase 3-alpha (GSK3A; EC {2.7.1.37}) is a multifunctional protein serine kinase, homologous to Drosophila 'shaggy' (zeste-white3) and implicated in the control of several regulatory proteins including glycogen synthase (see GYS1, {138570}) and transcription factors (e.g., JUN, {165160}). It also plays a role in the WNT ({164820}) and PI3K (see PIK3CG, {601232}) signaling pathways (see review by {1:Ali et al. (2001)}).[supplied by OMIM] 1580863 8524413,18042454,17609434,17569761,17325032,17192257,17158447,17052453,16987514,16984735,16934436,16912034,16806170,16757548,16611631,16543145,15631989,15592455,15489334,15194499,15057824,14550568,12890758,12761548,12675919,12665592,12477932,12379450,12086949,12054501,11884598,11749387,11500362,11035810,10448973,9809441,8725894,7931292,7715701,15361837,15469820 2931 NM_019884,AC006486,CH471126,BC027984,BC051865,CR593340,CR597295,CR610570,CR615336,CR749620,D63424,L40027 NP_063937,AAD11986,EAW57114,EAW57115,AAH27984,AAH51865,CAH18414,BAA23608,AAA62432,P49840,Q68D16,ABM81940,ABM84255,ABM85121,ABM87623 Hs.466828 GDB:6108056 DKFZp686D0638 protein-coding 733891 GSK3B glycogen synthase kinase 3 beta Glycogen synthase kinase-3 (GSK3) is a proline-directed serine-threonine kinase that was initially identified as a phosphorylating and inactivating glycogen synthase. Two isoforms, alpha (GSK3A; MIM 606784) and beta, show a high degree of amino acid homology (Stambolic and Woodgett, 1994 [PubMed 7980435]). GSK3B is involved in energy metabolism, neuronal cell development, and body pattern formation (Plyte et al., 1992 [PubMed 1333807]).[supplied by OMIM] 1358650,1300048,1580863,1358649,1302533,1302569,1641844,1581696,1641929,1641931,2293188 17671694,17628506,17621269,17621172,17609434,17565981,17562708,17522055,17486076,17483602,17475833,17438332,17434145,17389597,17387146,17368486,17357145,17325032,17283049,17273789,17270183,17241872,17233643,17192257,17160944,17159916,17150190,17139249,17107957,17098228,17081983,17072303,17052453,17050006,17046823,17028556,17016438,16987514,16987250,16984735,16982692,16981698,16964243,16959574,16951223,16942622,16934436,16916907,16912034,16893889,16882987,16861141,16788573,16787706,16767496,16757548,16705181,16645641,16611631,16601113,16571670,16551619,16543730,16543145,16537926,16528748,15465828,14744935,9601641,7980435,14749367,11104755,16188939,8524413,11955436,12000790,12820959,15327769,16753179,18451303,18316598,18263590,18243662,18218855,18201972,18195729,18167338,18156211,18083346,18055457,17991738,17976739,17972518,17951252,17912008,17908237,17717075,17711861,17697341,17681942,16519508,16462886,16428884,16428445,16421604,16420965,16397405,16371352,16365045,16341242,16315267,16289845,16282323,16278684,16257959,16210249,16198352,16174773,16107342,16076840,16055726,16043125,16027724,16007092,15993040,15981102,15963640,15951569,15942663,15940626,15799972,15752768,15719395,15631989,15609321,15592455,15555766,15522877,15517997,15489334,15469820,15456937,15379854,15375789,15351432,15345747,15302935,15254796,15252116,15231747,15179015,15178691,15178331,15147888,15132987,15073173,15026145,15020233,14991743,14988390,14988008,14985354,14729229,14729058,14691449,14660640,14617795,14561750,14550568,14536078,14523002,14520463,14518171,12969793,12900420,12885254,12871932,12829841,12819195,12808104,12796505,11500362,11495916,11483158,11481324,11440715,11427888,11425860,11320080,11311121,11181841,11035810,11004522,10966653,10936190,10910956,10826493,10753899,10671552,10653665,10587587,10581160,10523816,10488109,10486203,10428961,10428053,10090741,9832503,9832145,9819408,9809441,9771888,9736715,9735171,9731200,9570753,9566905,9565682,9546672,9482734,9468292,9353289,9199504,8999860,8861947,8764598,8638126,8404858,8382613,8247524,7706316,7642555,7566346,12794074,12778079,12761178,12663502,12603528,12584189,12566926,12554650,12477932,12434148,12387897,12387894,12379450,12376533,12364325,12244165,12228224,12226093,12182887,12167628,12162494,12147701,12133000,12130654,12123574,12114015,12095675,12086949,12064478,12063245,12054501,12051714,12048243,11986994,11980723,11967263,11903055,11877389,11818547,11812770,11809746,11781156,11738041,11524435,7514173,6772446,1333807,1330687,1324914,1181841,16189514,9734785,17353931,11251183,14529625,15824731,15448698,15829978,15383283,15688030,14636947 1358650,1358649,1302533,1302569,1641844,1581696,1641929,1641931,2293188 2932 AC069444,AC078856,AC092910,AF074333,AF098789,NM_002093,CH471052,AK290897,BC000251,BC012760,CR536510,CR615239,CR617019,EU302497,L33801 NP_002084,AAD48517,AAC69340,EAW79533,EAW79534,EAW79535,EAW79536,BAF83586,AAH00251,AAH12760,CAG38748,ABX89591,AAA66475,P49841,Q6FI27,ABM83427,ABM86640 Hs.445733 GDB:6108057 protein-coding 1349905 GSM1 geniospasm 1 9382105 2933 GDB:9784210 1346375 GSN gelsolin (amyloidosis, Finnish type) The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. 1599858,1599864,1599866,1599869,1599872,1599873,1580863 15281090,15215896,15213223,15033777,14702039,14652020,14596804,14527665,14527664,12966145,12941811,12833632,12752443,12665801,12655044,12613021,12592377,12578912,12477932,12460571,12270712,12027462,11925941,11753432,11733011,11577104,11171090,11093254,11039896,10945978,10809769,10802062,10583954,10521462,10329371,10210201,9819354,9671712,9323209,9109384,9003812,8703941,8599675,8395021,8310295,7868127,7849017,7550233,6282935,6092370,2831714,2176481,2175344,2157434,2153578,1658654,1652889,1338910,1322359,1315718,1311149,16526095,14563843,14530271,15377282,1321812,10793131,12732734,17353931,17373842,3020431,14718574,17982131,17720986,17556051,17534828,17258204,17254575,17178161,17130841,16882345,16556605,16475811,16344560,16217750,16008344,15922735,15538717,15527423,15526166,15489334 1599858,1599864,1599866,1599869,1599872,1599873 2934 NM_198252,NM_000177,NM_001127662,NM_001127663,NM_001127664,NM_001127665,NM_001127666,NM_001127667,AL049930,AL513122,CH471090,AI742454,AK092797,AK096280,AK125819,AL832070,BC017491,BC026033,BU151663,BX647999,CR596569,CR618098,DA294394,DA394782,DA450851,DB170452,DB250757,DC316173,DC341948,DC370937,X04412 NP_937895,NP_000168,NP_001121134,NP_001121135,NP_001121136,NP_001121137,NP_001121138,NP_001121139,CAI14413,CAI14414,CAI14415,CAI14416,CAI14417,CAI14418,EAW87489,EAW87490,EAW87491,CAH10407,AAH17491,AAH26033,CAA28000,P06396,Q5T0H7,Q5T0H8,Q5T0I0,Q5T0I1,Q5T0I2,Q69YR8,ABM83113,ABW03494 Hs.522373 GDB:120019 DKFZp313L0718 protein-coding 1344503 GSPT1 G1 to S phase transition 1 1580863 15326224,9620853,9712840,12489690,2511002,18083835,17700517,17562865,16713569,16582619,16452507,15987998,15987717,15908960,14702039,12865429,12477932,10493829,10358005,9928949,2841115,1574740 2935 NM_002094,AC007216,CH471112,U95742,AK095483,AK290382,BC008391,BC009503,BT006722,CR593395,CR594646,X17644 NP_002085,EAW85130,EAW85131,EAW85132,AAB67250,BAF83071,AAH09503,AAP35368,CAA35635,P15170,Q7KZX8,Q96GF2 Hs.528780 GDB:131357 551G9.2|ETF3A|GST1|eRF3a protein-coding 1354196 GSPT2 G1 to S phase transition 2 GSPT2 is closely related to GSPT1 (MIM 139259), a GTP-binding protein that plays an essential role at the G1- to S-phase transition of the cell cycle in yeast and human cells. GSPT1 is a positive regulator of translational accuracy and, in a binary complex with eRF1 (MIM 600285), functions as a polypeptide chain release factor.[supplied by OMIM] 1580863 9712840,15987998,14702039,12477932,12354098,10575220,10358005,16189514 23708 NM_018094,AL929101,CH471230,AJ251548,AK001303,AK023155,BC036077,CR623122 NP_060564,EAW62898,CAB91089,BAA91612,BAB14435,AAH36077,Q8IYD1 Hs.59523 GDB:10794651 FLJ10441|GST2|eRF3b protein-coding 732221 GSR glutathione reductase 1580863,1600697,1600704,1600708,1625122 947404,18341267,17206382,16868544,16424062,16421571,15978628,15592455,15489334,15149466,14637279,12901426,12838770,12838767,12826156,12630007,12533953,12516882,12477932,12447480,12095224,11710935,11273669,11204445,10708558,9546215,9174360,9151953,8626496,7663973,7334521,7060551,6822532,3656429,2379581,2185014,923580,302667,2306116 1600697,1600704,1600708,1625122 2936 NM_000637,AC009314,AC103959,AF228703,AY338490,CH471080,AF228704,BC035691,BC069244,BM478942,BM838919,CR597200,CR603039,X15722,X54507 NP_000628,AAF37572,AAF37573,AAP88037,EAW63442,EAW63443,EAW63444,EAW63445,AAF37574,AAH69244,CAA33744,CAA38367,P00390,Q03504 Hs.271510 GDB:119288 MGC78522 protein-coding 735330 GSS glutathione synthetase Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. 1580863,1599324,1302516,1300048 7646467,8896573,465367,17503480,17234469,17206463,15890065,11167850,10861239,10652368,10450861,9501919,9215686,8825653,6137189,6112263,1518371,15489334,15173170,14990577,12638941,12477932,11780052 1599324,1302516 2937 NM_000178,AF485789,AL133324,CH471077,DQ074975,BC007927,CR596201,CR602068,CR611077,CR617218,CR620374,U34683 NP_000169,AAL91591,CAB93423,EAW76239,EAW76240,EAW76241,AAY57328,AAH07927,AAB62390,P48637,Q8TDA8,ABM84164,ABM87567 Hs.82327 GDB:637022 GSHS|MGC14098 protein-coding 1349200 GSTA1 glutathione S-transferase A1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. 1580863,1641938 14690442,12871945,12524083,12516103,12477932,12473455,12447480,12211029,12206662,12139976,12093480,12087351,11931663,11747461,11692074,11668220,11550208,11535243,11152686,10213291,10053036,9503014,8598105,8591048,8431482,8331657,8307579,8242618,8185623,1731620,11851347,3800996,18430527,18414193,18300949,18224491,18214047,18186040,18161889,18066575,18065725,17716224,17644396,17631926,17425746,17374652,17333241,17197702,17086718,17071629,17021248,16865249,16786188,16624829,16599007,16365014,16280386,16190865,16116487,15952767,15900282,15893769,15808404,15797627,15757902,15746160,15616829,15525789,15489334,15319294,15202795,15182170,15128049,7888077,3678589,3138230,3036131,3031680,2604726,2018473,1530570,1330133 1641938 2938 AL590363,CH471081,S76235,AY532928,BC053578,BC110891,BG430521,BI762344,CA841071,CR407656,CR601373,CR605001,CR610102,M14777,M15872,M21758,M25627,S49975,NM_145740 NP_665683,CAI13812,EAX04385,AAB20973,AAT06769,AAH53578,AAI10892,CAG28584,AAA52618,AAA70226,AAA52615,AAA36174,AAB24012,P08263,Q5SZC1,Q5GHF8 Hs.446309 GDB:128873 GST2|GSTA1-1|GTH1|MGC131939 protein-coding 737133 GSTA2 glutathione S-transferase A2 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. 1358120,1300048,1580863,1641938 3138230,17290392,17259654,16006997,15778998,15489334,15128049,14574404,12477932,12139976,12093480,12023294,11692074,11668220,10676639,9230131,8431482,8307579,8242618,7892174,3901925,3800996,3678589,3036131,3031680,2604726,1627661,1530570,1497629,1330133,1329668 1358120,1641938 2939 X65727,AK292602,BC002895,BE795593,BE796134,M16594,NM_000846,AL109918,CH471081,S45640 AAB23672,CAA46642,CAA46643,BAF85291,AAH02895,AAA52616,P09210,Q12760,ABM83917,ABM87238,NP_000837,CAB92770,EAX04384 Hs.94107 GDB:120023 GST2|GSTA2-2|GTA2|GTH2|MGC10525 glutathione-s-transferase, alpha type2 protein-coding 1351230 GSTA3 glutathione S-transferase A3 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. 1580863,1641938 9480897,16876319,15595823,15489334,15454730,14574404,12477932,11872752,11418619,8307579 1641938 2940 NM_000847,AL121969,CH471081,DQ993361,L13275,AA846513,AF020919,AF508266,BC020619,BG573805,CR601508 NP_000838,CAC10389,CAI42453,CAI42454,EAX04390,EAX04391,ABI75350,AAA74634,AAD04712,AAM33360,AAH20619,Q068V6,Q16772,Q5JW84,Q5JW85,ABM82315,ABM85490 Hs.102484 GDB:304395 GSTA3-3|GTA3|MGC22232 protein-coding 1320601 GSTA4 glutathione S-transferase A4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. 1358120,1580863,1641942 16189514,16054170,16006997,16005854,15489334,14761685,14702039,14574404,12477932,12093480,11884396,11724905,11687296,11640913,11368510,10329152,9820822,9587421,9480897,9461507,11851347,18080870,18065725,17553661,17290392 1358120,1641942 2941 NM_001512,AF050059,AL121969,AL162581,AY878121,CH471081,AF020918,AF025887,AF125271,AF125272,AF125273,AK054804,BC015523,BC063439,BC096817,BG716171,CR594939,CR597241,CR599141,CR604578,CR608427,CR613653,CR625957,CR749474,Y13047 NP_001503,AAC72706,CAI42451,CAI42455,CAI42456,CAI19517,AAW56075,EAX04393,EAX04394,EAX04395,EAX04396,EAX04397,EAX04398,EAX04399,AAD04711,AAC39695,AAD27704,AAD27705,AAD27706,AAH15523,AAH63439,AAH96817,CAH18304,CAA73482,O15217,Q4V9M3,Q5JW88,Q6P4G1,ABM81587,ABM84767 Hs.485557 GDB:9848723 DKFZp686D21185|GSTA4-4|GTA4 protein-coding 1344623 GSTA5 glutathione S-transferase A5 1580863 14574404,12042665,10676639 221357 NM_153699,AL590363,BK000212,CH471081 NP_714543,CAI13814,DAA00071,EAX04386,EAX04387,Q5SZC2,Q7RTV2,AAI46333,AAI48817 Hs.553652 GDB:11511182 protein-coding 1606335 GSTAP1 glutathione S-transferase A pseudogene 1 14726935,8307579,8185623 2942 NG_001135,AL590363,L13269 GDB:136064 pseudo 1350888 GSTAP2 glutathione S-transferase A pseudogene 2 1329668 2943 GDB:303910 1602688 GSTCD glutathione S-transferase, C-terminal domain containing 14702039,12477932,9373149,8125298 79807 AC008243,AC105391,CH471057,AK023335,AK225563,AK292355,BC032942,BX648355,NM_024751,NM_001031720 NP_001026890,EAX06191,EAX06192,EAX06193,BAB14532,BAF85044,AAH32942,Q8NEC7,NP_079027 Hs.161429 DKFZp686I10174|FLJ13273 protein-coding 1606879 GSTK1 glutathione S-transferase kappa 1 14702039,12720545,12690205,12477932,11230166,11076863,11042152,17353931,11256614,16381901,16081649,15489336,14742434,14709161 373156 AC073342,AY486465,CH236959,CH471198,AF068287,AF070657,AF087849,AK000640,AK095263,AK289570,AK289580,AL136938,AY520571,BC001231,BC050715,BC063425,BC110600,NM_015917,CR533445,CR597274,CR600089,CR605600,CR613327,CR614943,CR615801 NP_057001,AAS01180,EAL23783,EAW51877,EAW51878,EAW51879,EAW51880,AAF65506,AAD20963,AAP97160,BAF82259,BAF82269,CAB66872,AAS00610,AAH01231,AAH50715,AAH63425,AAI10601,CAG38476,Q0JSA7,Q2NLC8,Q6FII1,Q6P4H0,Q9Y2Q3,CAL38607 Hs.390667 GST13 protein-coding 736060 GSTM1 glutathione S-transferase M1 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. 1331525,1358668,1358120 8403204,18491076,18472644,18463401,18461673,18455004,18449862,18449058,18447907,18444911,18443805,18425393,18416133,18415801,18414197,18413200,18411704,18409821,18398695,18397238,18392488,17581325,17572208,17568619,17565746,17565649,17563610,17548691,17536768,17531965,17525473,17524385,17514530,17513527,17513317,17508968,17507624,17505575,17502835,17497028,17479278,17477782,17476458,17469025,17465707,17461521,17454600,17450230,17449559,17448506,17445838,17439673,17438538,17437619,17431481,17429172,17428724,17428572,17420047,17418613,17416773,17416769,17412371,17408703,17403576,17403528,17401013,17400324,17397002,17384900,17381051,17374652,17372252,18066575,18065725,18061941,18058229,18057098,18056202,18053222,18035413,18035380,18035379,18033323,17996038,17985662,17982751,17980001,17979505,17965781,17953974,17937745,17922436,17916905,17916600,17914442,17912498,17908297,17900751,17897446,17896209,17885617,17880378,17879833,17874314,17873299,17870518,17869325,17853809,17716707,17714740,17711870,17707637,17700360,17696741,17693660,17684133,17683074,17653748,17653713,17652311,17651144,17646057,17644396,17643058,17631926,17624589,17617661,17617021,17611777,17610937,17603900,18067039,18385010,18365908,18365755,18334963,18328165,18325667,18305556,18304461,18304215,18303971,18300949,18298341,18287869,18285692,18282563,18280004,18270371,18269668,18268125,18262724,18261353,18254710,18241825,18240903,18224491,18214047,18207572,18203021,18199464,18177825,18162130,18161889,18159984,18155166,18094897,18093316,18090121,18082227,18080216,18078203,18074677,18070799,18387669,17367411,17365577,17364458,17363580,17194620,17194543,17191090,17187162,17182005,17180579,17179680,17178637,17171211,17167268,17160315,17158763,17158087,17123660,17119198,17119046,17118447,17084623,17083362,17072629,17071629,17069592,17064856,17059341,17059334,17035385,17034008,17026750,17023730,17022435,17020091,17016589,17005168,16998606,16995867,16985033,16977512,16977343,16973661,16973168,16939958,16938565,16927413,16788248,16771603,16765145,16760134,16758119,16740387,16721740,16720291,16710704,16707601,16703596,16702390,16697254,16676598,16676594,16642467,16638627,16631467,16625286,16624155,16622263,16621679,16620591,16620556,16620396,16618661,16615268,16614120,16614107,16614106,16614101,16611538,16599007,16596290,16580705,16574194,16567317,16551760,16551674,16550944,16536303,16535827,16535824,16531839,16523188,16521944,16520888,16519766,16517545,16509765,16504378,16496253,16493615,16488119,16484137,16484136,16481407,16472391,16471212,16466991,16459354,16456144,16452581,16438295,16427734,16424825,16416283,16415899,16413497,16409207,16395669,16393248,16390810,16380991,16365014,16361831,16360200,16357600,16357593,16353154,16338071,16334806,16328000,16321221,16318999,16318816,16316639,16314088,16308270,16302194,16291859,16284498,16283344,16282887,16273625,16270381,16238106,16235998,16235991,16235985,16235982,16228113,16227674,16199080,16195240,16921513,16917939,16914185,16911024,16906563,16898590,16887863,16886896,16884947,16882827,16870661,16870093,16869871,16865249,16864595,16847185,16839232,16837240,16830058,16829689,16823842,16804018,16798650,16788846,16788422,17361553,17342328,17340208,17336217,17333241,17318627,17318621,17307803,17307802,17301692,17298885,17296590,17291352,17290402,17290392,17284320,17277043,17265526,17250723,17228018,17221058,17217536,17206640,17203516,17195228,15981231,15974302,15968714,15953982,15952134,15940757,16000570,15991278,15934438,15932176,15932063,15931768,15928955,15927971,15916660,15914277,15914211,15901999,15900216,15894422,15891640,15870154,15866612,15864623,15862746,15861041,15857854,15849806,15845652,15840612,15838728,15834859,15832776,15829318,15812885,15805147,15801491,15801482,15790417,15781210,15777500,15777499,15770723,16174455,16173971,16173036,16164441,16162701,16160620,16157195,16135950,16132793,16125881,16124895,16112301,16110016,16105747,16099114,16098500,16097394,16091114,16079101,16049806,16047490,16043197,16037119,16030123,16030117,16027873,16020798,16020292,16018936,16012082,16009381,16006997,16005379,16003747,16002077,15552037,15548945,15546237,15538046,15536330,15533900,15531593,15528218,15526353,15525789,15499621,15496536,15492856,15491310,15474467,15473001,15472409,15471894,15466980,15459223,15459020,15455371,15454734,15450429,15382273,15382272,15381379,15375499,15368334,15365959,15365958,15363546,15355699,15352038,15344211,15342448,15339690,15338373,15334395,15333250,15327835,15319294,15318028,15315337,15309405,15302996,15300848,15299090,15299005,15298956,15288444,15284178,15280903,15279067,15273962,15273656,15256483,15246186,15226677,15223862,15219943,15111988,15105047,15102663,15099925,15095308,15093273,15090724,15090717,15088107,15085249,15069692,15069679,15066574,15066569,15064998,15064808,15061915,15061826,15059587,15059326,15057507,15052670,15048646,15047208,15038404,15036119,15033463,15008663,15006924,15004652,14992466,14991750,14980314,14973116,14973092,14973088,14968442,14963830,14758730,14752874,14751678,14740231,14735473,14726165,14724908,14719475,14716779,14714091,14696128,14694620,14694614,14694237,14693745,14693733,14688020,14681495,14669454,14666648,14665706,14662420,14662415,15769360,15764294,15756908,15748501,15747169,15746160,15738600,15736440,15734972,15734960,15734083,15725614,15725081,15723126,15721419,15717164,15714076,15713801,15694665,15688399,15688397,15671210,15668931,15668493,15667866,15661806,15661231,15646021,15642394,15640939,15640066,15639977,15638917,15637738,15634519,15633230,15631753,15627678,15616829,15612961,15596296,15591753,15588859,15582598,15579657,15570292,15565566,15559321,15215328,15213713,15206494,15199549,15197518,15195126,15195058,15194533,15194507,15192016,15184245,15184197,15182232,15177667,15177664,15167446,15165083,15152552,15148962,15142875,15141140,15138056,15136237,15131792,15128924,15127559,15125256,15125229,15122594,15120911,15120366,15115915,15113959,15112335,12210502,12204870,12192076,12191879,12189190,12186820,12183419,12175548,12175533,12173466,12172927,12172391,12171760,12170467,12163326,12160895,12153968,12153964,12151353,12150456,12145701,12139976,12139735,12117698,12115580,12110344,12091121,12083949,12082022,12077134,12074508,12072547,12070010,12063626,12050092,12034316,12029283,12019159,12018173,12016165,12016153,12010828,11984214,11977425,11967624,11966948,11964928,11948486,11943609,11939169,11936216,11934439,12563680,12556960,12552997,12552971,12552594,12548461,12540498,12536075,12530094,12524158,12519635,12500684,12500666,12499585,12486119,12485442,12477932,12468438,12460800,12435115,12433731,12430181,12429337,12421502,12419833,12419832,12406553,12397651,12397416,12376511,12376472,12365037,12364860,12359356,12355548,12351375,12325261,12296511,12241105,12814450,12811412,12794689,12781423,12775499,12771031,12767525,12762073,12760253,12759747,12759104,12754129,12750240,12748560,12747608,12740153,12736537,12732844,12718704,12718576,12717779,12716303,12713578,12690010,12682546,12670526,12668919,12665121,12657030,12644106,12631667,12631536,12624497,12620480,12611461,12606593,12579490,12579334,12579293,14656945,14646292,14646291,14644396,14643449,14637136,14628089,14626895,14607752,14607333,14594555,14568289,14562023,14553946,14534704,14523342,14519756,14510941,14504370,14504203,14504199,12972061,12960511,12960134,12949934,12944179,12943165,12940438,12928118,12926131,12925969,12919721,12883749,12883385,12879272,12875700,12873455,12860276,12859033,14658041,12854128,12851839,12835615,12827651,12824892,12814998,11920399,11906705,11898621,11895912,11872636,11870126,11862323,11860849,11860825,11859714,11859435,11844594,11840286,11833070,11825664,11819818,11819562,11815259,11810936,11810042,11809532,11808883,11792413,11773864,11766168,11760815,11757669,11751442,11751440,11751390,11740339,11731429,11719393,11719088,11700265,11692073,11688992,11927838,11680579,11675474,11675150,11641039,11595069,11588132,11585745,11564581,11562107,11553769,11535253,11535248,11520401,11505223,11505220,11505167,11503278,11501853,11477481,11470766,11447041,11422615,11408954,11406608,11406420,11389067,11330960,11328408,11325850,11307147,11303592,11300251,11297759,11295132,11291049,11283827,11278289,11275366,11271497,11257276,11234415,11230469,11227922,11219770,11201682,11198676,11191882,11186133,11181983,11181039,11173863,11169956,11165755,11162685,11159743,11159742,11142418,11137199,11131031,11097350,11081456,11062156,11055624,11051261,11045797,11045791,11045782,11044240,11040079,11037803,10791558,10625170,9930979,9452477,8824514,8473333,8471052,8317488,7822249,6500576,3979555,3864155,3419925,3174634,3123804,2468363,2362832,2110160,1846734,1627661,1530570,1483702,1420361,16189514,6712152 1331525,1358668,1358120 2944 NM_146421,AC000031,AC000032,S62935,X51451,X68676,AY510272,AY532926,AY532927,BC024005,BC036805,BC095463,BQ436476,CR541868,J03817,X08020,NM_000561 NP_000552,NP_666533,AAD13938,CAA35817,CAA48636,AAR85979,AAT06767,AAT06768,AAH24005,CAG46666,AAA59203,CAA30821,Q16041,Q8TC98,Q9UC96,P09488 Hs.301961 GDB:120020 GST1|GSTM1-1|GSTM1a-1a|GSTM1b-1b|GTH4|GTM1|H-B|MGC26563|MU|MU-1 glutathione s-transferase, mu 1 protein-coding 1349551 GSTM1L glutathione S-transferase M1-like 2737666 2945 NR_003112,AC091492 GDB:120022 GST1L pseudo 735264 GSTM2 glutathione S-transferase M2 (muscle) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. 1358120,1580863 2034681,18065725,18007994,17197702,16002077,15725629,15489334,14634838,12871945,12486119,12477932,12192076,10676639,9761928,9452477,9164836,8373352,8317488,8242618,8182750,6500576,2345169,2006920,1602151,1530570 1358120 2946 NM_000848,AC000031,CH471122,X56838,BC017836,BC105038,BC105066,BC110380,BM924181,BT019947,CR593978,CR602220,CR605073,CR605552,CR610968,CR613986,CR614262,CR620137,M63509 NP_000839,EAW56406,CAA40168,AAI05039,AAI05067,AAI10381,AAV38750,AAA60963,P28161,Q0D2I8,Q9UE37 Hs.279837 GDB:128593 GST4|GSTM|GSTM2-2|GTHMUS|MGC117303 glutathione s-transferase, mu 2 protein-coding 1349768 GSTM3 glutathione S-transferase M3 (brain) Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. 1580863 2345169,17353931,10037815,18447907,18423940,18258609,18204928,18177825,18065725,17922434,17904251,17716224,17617661,17565746,17449559,17372252,17290392,17259654,17220350,17083362,17034008,16985026,16886896,16765145,16760134,16598069,16509765,16488179,16328000,16189514,16172217,16112301,16006997,15914277,15829318,15665284,15654505,15621212,15525789,15489334,15459020,15115915,15338373,15069685,14968442,14735473,14634838,12548461,12477932,12359356,12063626,12016153,11927838,11740339,11692073,11535247,11511301,11408349,11303592,11289100,11173863,11081456,11040079,10587441,9882431,9797707,9230131,8824514,8473333,8404061,8373352,8317488,8242618,8218382,1530570 2947 NM_000849,AF043105,AL158847,CH471122,EU136188,AB209816,AI201498,AI570401,BC000088,BC008790,BC030253,BE392471,BG285419,BT019945,CR542108,CR591709,CR594709,CR596255,CR614504,CR615961,CR617393,CR620381,EF363096,J05459 NP_000840,AAC17866,CAI22581,EAW56409,ABV02583,BAD93053,AAH00088,AAH08790,AAH30253,AAV38748,CAG46905,ABO72589,AAA60964,P21266,Q59EJ5,Q6FGJ9,Q8N6G9,ABM82760,ABW03438 Hs.2006 GDB:128874 GST5|GSTB|GSTM3-3|GTM3|MGC3310|MGC3704 protein-coding 1349886 GSTM3P glutathione S-transferase M3 pseudogene 170523 NG_001040,AL133325 GDB:11506113 dJ984P4.2 pseudo 1606334 GSTM4 glutathione S-transferase M4 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. 1530570,16189514,8349586,16854533,16169070,15489334,12477932,12140136,11508575,10905636,10587441,8471052,8373352,8284940,8276420,8203914,3174634,2006920 2948 AI949679,AK291880,BC015513,BC108729,BI458242,CR541869,CR613309,CR621776,DQ062813,M96234,M99421,M99422,NM_147148,NM_000850,AC000031,CH471122,M96233,X56837,X68677 CAA48637,BAF84569,AAH15513,AAI08730,CAG46667,AAY98515,AAA57347,AAA58623,Q03013,Q4JNT8,ABM81584,ABM81585,ABM84765,NP_671489,NP_000841,EAW56402,EAW56403,EAW56404,EAW56405,AAA57346,CAA40167 Hs.348387 GDB:134191 GSTM4-4|GTM4|MGC131945|MGC9247 protein-coding 1343128 GSTM5 glutathione S-transferase M5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. 1580863 8473333,15489334,14702039,12477932,11684093,9452477,9230131,8317488 2949 NM_000851,AC000032,AL158847,CH471122,AK125820,AK127250,AK289673,BC058881,BI824480,L02321 NP_000842,CAI22578,CAI22579,CAI22580,EAW56407,EAW56408,BAC86900,BAF82362,AAH58881,AAA20040,P46439,Q5T8Q9,Q5T8R1,Q5T8R2,Q6ZSP8 Hs.75652 GDB:139214 GSTM5-5|GTM5 protein-coding 1345331 GSTO1 glutathione S-transferase omega 1 This gene encodes a member of the theta class glutathione S-transferase-like (GSTTL) protein family. In mouse, the encoded protein acts as a small stress response protein, likely involved in cellular redox homeostasis. 1580863 10783391,18449862,18427999,18414634,18414193,18400112,18216717,18186040,18065725,17717316,17637926,17617905,17548696,17484623,17450230,17194543,17158763,16169070,15992993,15917099,15901998,15623683,15489334,15164054,15159516,15040808,14570706,12928150,12618591,12565892,12477932,11457926,11271497,9988762,9786866,8076819 9446 NM_004832,AL139341,AY817669,CH471066,AF212303,BC000127,BX537431,U90313 NP_004823,CAI17224,CAI17225,CAI17226,AAV68046,EAW49601,EAW49602,EAW49603,EAW49604,AAF73376,AAH00127,CAD97673,AAB70109,P78417,Q5TA02 Hs.190028 DKFZp686H13163|GSTTLp28|P28 protein-coding 1321858 GSTO2 glutathione S-transferase omega 2 1358120 18427999,18414634,18398695,18065725,17978102,17505575,17194543,16788846,16761626,16710704,15992993,15942673,15917099,15489334,15164054,15159516,15040808,12618591,12477932 1358120 119391 NM_183239,AL139341,AL162742,CH471066,AK291886,AY191318,AY209189,AY350731,BC023583,BC046194,BC056918 NP_899062,CAC16040,CAI12107,EAW49598,EAW49599,EAW49600,BAF84575,AAO23573,AAP47743,AAR02452,AAH56918,Q5JU15,Q9H4Y5 Hs.203634 bA127L20.1 protein-coding 1347598 GSTO3P1 glutathione S-transferase omega 3 pseudogene 1 12618591 344813 NG_005668,AC097105 pseudo 732257 GSTP1 glutathione S-transferase pi Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. The glutathione S-transferase pi gene (GSTP1) is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. 1358669,1331525,737707,1580863,1357965,1641942 18425393,18413200,18411704,18385010,18365908,18365755,18335111,18328165,18327668,18326615,18298341,18288203,18280004,18269668,18267032,18258609,18240903,18215156,18214047,18204928,18204073,18203021,18199464,18188076,18177897,18162130,18161889,18159215,18095031,18093316,18086266,18085999,18080216,18067039,18066575,18065725,18061666,18058812,18058229,18057098,18035380,17980933,17980001,17964545,17960617,17925548,17922436,17922231,17916905,17916600,17914442,17912498,17892615,17886251,17885617,17823364,17716224,17711870,17707637,17696749,17696741,17693660,17690329,17686149,17683074,17665167,17652311,17651144,17646057,17644396,17643058,17642299,17631926,17624589,17619844,17617661,17617021,17608547,17593927,17593093,17588204,17584018,17565746,17560037,17551301,17548864,16636664,16130169,9802272,18472644,18453734,18449862,18449058,18447907,18430527,15161912,15161530,15159312,15159014,15131792,15125256,15122594,15120911,15120366,15115915,15111988,15105047,15102663,15095308,15093273,15080568,15069692,15069685,15069679,15066569,15061915,15047486,15006924,14991750,14963830,14751678,17548691,14748821,14740231,14735473,14732228,14726935,14726165,14724908,14719475,14719182,14714299,14714091,14693745,14693733,14678959,14676828,14665706,14642067,14634838,14628089,14623254,14607333,14534616,14521761,14501269,12943817,12937133,12928118,12926131,12926120,12883749,12883385,12879272,12871945,12871931,12854128,12835616,12827651,12818186,12814998,12794689,12791655,12789263,12787298,12781423,12775499,12759747,12753710,12746833,12736537,12725062,12718576,12717779,12716303,12711112,12691788,12670526,12665801,12660004,12646564,12640684,17536768,17532303,17513610,17512053,17508968,17508213,17507624,17505575,17502835,17498780,17497028,17479284,17479278,17476458,17476281,17469025,17454600,17453001,17449559,17439673,17431481,17428724,17428572,17424838,17418613,17416773,17416769,17415778,17412371,17409981,17409936,17409824,17404745,17404387,17404132,17403528,17401013,17374652,17372252,17369149,17365145,17363767,17363580,17342328,17336217,17333241,17301692,17296590,17291695,17291352,17290392,17284320,17277236,17265526,17250723,17234469,17228018,17217536,17206640,17197702,17195228,17194543,17191090,17190945,17181111,17180579,17179690,17179680,17167268,17160265,17159790,17158763,17158087,17133316,17123660,17119046,17113562,17108810,17084623,17071629,17069592,17067754,17064856,17059341,17035385,17034008,17029404,17023730,17022435,16998606,16995867,16985032,16985026,16977512,16973168,16933328,16927413,16923217,16921513,16914185,16893516,17083362,16875718,16870661,16870093,16869871,16865249,16839232,16837240,16829689,16791478,16788846,16788248,16771603,16765145,16760134,16740387,16710704,16707601,16672066,16638627,16631467,16622263,16621679,16618661,16615268,16614120,16614106,16599007,16597834,16531839,16509765,16496253,16492918,16488119,16484137,16478744,16459354,16456144,16425401,16401067,16395669,16369102,16365014,16361831,16353154,16342067,16338071,16328000,16322291,16317430,16316639,16297214,16886896,16882827,16295782,16284498,16282887,16272961,16240451,16236267,16235992,16235991,16199080,16195240,16176403,16173971,16173036,16169070,16164441,16162701,16157826,16157195,16147638,16125881,16112301,16109392,16098500,16097394,16079101,16047490,16043197,16039055,16030123,16030117,16027873,16020292,16006997,16005379,16000570,15999103,15952740,15952134,15940757,15938845,15934438,15932063,15928955,15927971,15923250,15900595,15900216,15896461,15891640,15888825,15878920,15864623,15862746,15849806,15845652,15837751,15832776,15829318,15808399,15805147,15801491,15788669,15788664,15780023,15770723,15746160,15738600,15736440,15734972,15729709,15725081,15717687,15717164,15693909,15668931,15668493,15661806,15649863,15642394,15640066,15638917,15637738,15616829,15612961,15585627,15565566,15546237,15544594,15542263,15538743,15533900,15531593,15528218,15527908,15526353,15525789,15499621,15489334,15488121,15479622,15473001,15471539,15466980,15459020,15382272,15375523,15365959,15355982,15355699,15352038,15347687,15342448,15341277,15339690,15334395,15328191,15319294,15309405,15298956,15288444,15256483,15254763,15246186,15231573,15226677,15215328,15213713,15195126,15192016,15184197,15182232,15177664,12631667,12589975,12632497,12579334,12563680,12548461,12543808,12540498,12536075,12524158,12518868,12500666,12497653,12485534,12485442,12478542,12477932,12473455,12443843,12440523,12439226,12435115,12419832,12414796,12397416,12376511,12376472,12360105,12359356,12297838,12241105,12210727,12204870,12189190,12175548,12172904,12172391,12153968,12153964,12148855,12139976,12127421,12112555,12112003,12091121,12072547,12063626,12036913,12029283,12019159,12010858,12010828,11994713,11967624,11960994,11956078,11948486,11943609,11927838,11912447,11906705,11895912,11862479,11844594,11809677,11796315,11788897,11783115,11773866,11757669,11751440,11751372,11740339,11727264,11726546,11700265,11692073,11686891,11562107,11553769,11550208,11535253,11535248,11535247,11511301,11470996,11434510,11408954,11408349,11406608,11389067,11307147,11303592,11291049,11279197,11196146,11191882,11186134,11186133,11169956,11159743,11131031,11097238,11086181,11081456,11059750,11045797,11044240,11040079,11013238,10493261,10441116,10413721,9973324,9485454,9407047,9398518,9351803,9278265,9245401,9150948,9092542,9012673,8433974,8340390,8188229,8175801,7587384,3979555,3864155,3664469,3395118,3196325,2625719,2542132,2468363,2466554,2327795,1991033,1885604,1880950,1522586,14499622,11433346,16189514,15765097 1358669,1331525,737707,1357965,1641942 2950 BT019950,CR450361,CR593425,CR596191,CR602934,CR604216,CR604255,CR609234,CR621327,U30897,U62589,X06547,X15480,NM_000852,AP001184,AY324387,CH471076,M24485,U12472,U21689,X08058,X08094,AY579414,BC010915,BC044846,BT019949 AAV38752,AAV38753,CAG29357,AAC51280,AAC51237,CAA29794,CAA33508,P09211,ABM83664,ABM86911,NP_000843,AAP72967,EAW74648,EAW74649,EAW74650,AAA56823,AAA64919,AAC13869,CAA30847,CAA30894,AAH10915 Hs.523836 GDB:120024 DFN7|FAEES3|GST3|PI glutathione s-transferase, pi 2 protein-coding 1343931 GSTPP glutathione S-transferase pi pseudogene 1427860 2951 NG_004638,AC023055,X65032 GDB:132336 GST3L|GSTPL pseudo 736934 GSTT1 glutathione S-transferase theta 1 Glutathione S-transferase (GST) theta 1 (GSTT1) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1 and GSTT2. The GSTT1 and GSTT2 share 55% amino acid sequence identity and both of them were claimed to have an important role in human carcinogenesis. The GSTT1 gene is located approximately 50kb away from the GSTT2 gene. The GSTT1 and GSTT2 genes have a similar structure, being composed of five exons with identical exon/intron boundaries. 704404,1358120,1580863 18061666,18058229,18057098,18056202,18035413,18035380,17996038,17985662,17980001,17979505,17965781,17953974,17937745,17922436,17916905,17916600,17914442,17912498,17896209,17885617,17880951,17880378,17879833,17874314,17873299,17869325,17853809,17823442,17716707,17711870,17707637,17693660,17683074,17659824,17653748,17653713,17651144,17646057,8198545,18491076,18472644,18463401,18461673,18455004,18449862,18449058,18447907,18444911,18443805,18425393,18416133,18415801,18414197,18413200,18409821,18398695,18397238,18394656,18387669,18385010,18365908,18365755,18334963,18328165,18327668,18325667,18320229,18305556,18303971,18300949,18298341,18287869,18285692,18280004,18254710,18224491,18214047,18207572,18203021,18199464,18197300,18186040,18177825,18163994,18162130,18161889,18155166,18094897,18093316,18090121,18080216,18078203,18074677,18070799,18067039,18066575,18065725,18061941,18392488,17631926,17617661,17617021,17611777,17610937,17603900,17602170,17592232,17586054,17581325,17572208,17569254,17568619,17565746,17565649,17563610,17536768,17524385,17514530,17513527,17513317,17507624,17505575,17502835,17498780,17497028,17479278,17476458,17469025,17465707,17454600,17452905,17450230,17449559,17448506,17445838,17439673,17438538,17437619,17644396,17431481,17428724,17428572,17420047,17418613,17416773,17416769,17412371,17408703,17403528,17401013,17400324,17397002,17384900,17381051,17374652,17372252,17367411,17365577,17363580,17361553,17342328,17340208,17336217,17333241,17330842,17318627,17318621,17307803,17307802,17301692,17296590,17291352,17290402,17290392,17284320,17265526,17228018,17221058,17217536,17206640,17195228,17194620,17194543,17191090,17182005,17180579,17178637,17167268,17164366,17160896,17160315,17158763,17158087,17140374,17123660,17119198,17119046,17118447,17084623,17083362,17078101,17072629,17071629,17069592,17064856,17059341,17034008,17026750,17022435,17020091,17016589,17005168,17000715,16998606,16995867,16985033,16977512,16977343,16973661,16973168,16939958,16938565,16927413,16923217,16921513,16914185,16911024,16906563,16898590,16886896,16884947,16874663,16870093,16869871,16865249,16864595,16847185,16839232,16837240,16830058,16829689,16823842,16798650,16788846,16788422,16788248,16771603,16765145,16763966,16760134,16740387,16734729,16721740,16720291,16710704,16707601,16703596,16702390,16697254,16676594,16638627,16631467,16624155,16622263,16621679,16620591,16620556,16620396,16618661,16615268,16614120,16614106,16611538,16599007,16596290,16574194,16567317,16551674,16550944,16536303,16338071,16321221,16318999,16316639,16314088,16308270,16298388,16291859,16284498,16283344,16282887,16235998,16235982,16228113,16227674,16214926,16199080,16195240,16173971,16173036,16164441,16160620,16135950,16132793,16125881,16124895,16112301,16110016,16098500,16097394,16091114,16079101,16051638,16049806,16047490,16043197,16030123,16030117,16027873,16020292,16009381,16005379,16002077,16000570,15991278,15981231,15974302,15953982,15499621,15492856,15489334,15478298,15475730,15474467,15473001,15472409,15468052,15461802,15459223,15459020,15455371,15450429,15382273,15382272,15368334,15365959,15365958,15355699,15352038,15342448,15339690,15338373,15334395,15333250,15327835,15319294,15315337,15309405,15302996,15300848,15298956,15288444,15284178,16535824,16531839,16523188,16521944,16520888,16517545,16509765,16507781,16504378,16501997,16496253,16493615,16484137,16475728,16471212,16466991,16459354,16438295,16427734,16424825,16415899,16413497,16409207,16406813,16393248,16390810,16386599,16380991,16361831,16360200,16357600,16357593,16353154,16535827,16341674,15952134,15940757,15934438,15932176,15932063,15928955,15927971,15923250,15916660,15914277,15914211,15901999,15900216,15894422,15891640,15878757,15870154,15866637,15866612,15864623,15862746,15861041,15849806,15845652,15840612,15832776,15829318,15805147,15801491,15801482,15790417,15777500,15777499,15770723,15764300,15764294,15756908,15748501,15747169,15746160,15738600,15736440,15734972,15734960,15734083,15725614,15725081,15721419,15719050,15717164,15714076,15694665,15688399,15688397,15668931,15668493,15667866,15661806,15661231,15646021,15642394,15640066,15639977,15638917,15637738,15634519,15633230,15627678,15616829,15612961,15588859,15582598,15579657,15570292,15565566,15559321,15548945,15546237,15538046,15536330,15533900,15531593,15528218,15526353,15525789,15838728,12854128,12851839,12835615,12827651,12814998,12814450,12811412,12794689,12781423,12767525,12762073,12760253,12759747,12759104,12750240,12748560,12747608,12739102,12736537,12732844,12718704,12718576,12717779,12716303,12713578,12690010,12682546,12670526,12668919,12657030,12631667,12631536,12624497,12620480,12611461,12606593,12579490,12579334,12563680,12556960,12552997,11760815,11757669,11751442,11751440,11740339,11731429,11719393,11700265,11692073,11675474,11641039,11595069,11588132,11585745,11564581,11562107,11535253,11535248,11525595,11520401,11511301,11505167,11503278,11488937,11487538,11477481,11473392,11470996,11470992,11470760,11459424,11447041,11440964,11434510,11422615,11418090,11410321,11408954,11406608,11389067,11330960,11328408,11325850,11307147,11303592,11291049,11283827,11279306,11275366,11259393,11257276,11246217,11234415,11230469,11191882,11186134,11186133,11165755,11162685,11159743,11142418,11131031,11097350,11081456,11052546,11051261,11045782,11044240,11040079,10975610,10760690,10625170,10591208,10426791,9729470,9434735,8889548,8761485,8617495,8569364,1848757,12552971,12548461,12540498,12536075,12530094,12524158,12519635,12500684,12500666,12485442,12477932,12460800,12439221,12435115,12433731,12430181,12429337,12421502,12419832,12406553,12397416,12376511,12365037,12359356,12355548,12351375,12296511,12241105,12210502,12204870,12189190,12183419,12175548,12175533,12173466,12172927,12172391,12171760,12170467,12163326,12153968,12153964,12150456,12145701,12139735,12091121,12083949,12082022,12072547,12070010,12063626,12055050,12034316,12029283,12018173,12016165,12016153,12010862,12010828,11977425,11967624,11966948,11943609,11936216,11934439,11927838,11906705,11898621,11895912,11884241,11862323,11859435,11854392,11844594,11840286,11825664,11819818,11819562,11808883,11792413,11779261,11773866,11773864,11766168,15122594,15120911,15120366,15115915,15113959,15112335,15111988,15105047,15102663,15099925,15095308,15093273,15090724,15090717,15088107,15069692,15069685,15069679,15066574,15066569,15064808,15061915,15059587,15057507,15047486,15047208,15038404,15036125,15033463,15006924,15004652,14992466,14991750,14980314,14973092,14973088,14968442,14963830,14752874,14751678,14740231,14735473,14726165,14724908,14719475,14716779,14714091,14696128,14694720,14693745,14693733,14688020,14688016,14681495,14669454,14666648,14665706,14662420,14656945,14646292,14644396,14643449,14637136,14626895,14607752,14607333,14568289,14562023,14534704,14519756,14504370,12972061,12960134,12943165,12926131,12883749,12883385,12879272,12875700,12860276,12859033,15125229,15279067,15273962,15258326,15256483,15256146,15246186,15226677,15223862,15219943,15215328,15213713,15206494,15202795,15199549,15197518,15195682,15195126,15194533,15194507,15192016,15184245,15184197,15182232,15177667,15177664,15165083,15148962,15142875,15136237,15131792 1358120 2952 NM_000853,AB057594,AF240786,AP000351,CH471095,Z84718,AF435971,AJ867757,AJ874719,BC007065,BC050410,BM765626,BT019951,CA313466,CR456499,CR597354,CR599021,CR602213,CR622903,X79389 NP_000844,BAB39498,AAG02374,EAW59629,EAW59630,EAW59631,EAW59632,EAW59633,EAW59634,EAW59635,AAL31549,CAI30331,CAI44003,AAH07065,AAV38754,CAG30385,CAA55935,P30711,Q4GZS9,Q4W252,Q5TZY2,Q6IC69,CAK54527,CAK54826,ABM84406,ABM87756 Hs.268573,Hs.678440 GDB:371704 glutathione s-transferase, theta 1 protein-coding 1349485 GSTT2 glutathione S-transferase theta 2 Glutathione S-transferase (GSTs) theta 2 (GSTT2) is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: Alpha, Mu, Pi, Theta, and Zeta. The theta class members GSTT1 and GSTT2 share 55% amino acid sequence identity and both are thought to have an important role in human carcinogenesis. The theta genes have a similar structure, being composed of five exons with identical exon/intron boundaries. 1580863 7789971,18449862,18268125,18258609,18186040,17250773,16006997,15654505,15489334,15461802,12871945,12477932,11181995,10975610,10760690,10591208,10426791,9729470,9551553,9037717,8889548,8761485,8617495,8617493,1417752 2953 NM_000854,AF057172,AF057173,AF057174,AF057176,AF240786,AP000351,CH471095,AA682380,BC002415,BM976631,BU584249,CR456374,CR456500,CR456929,CR590685,CR601749,CR612277,L38503 NP_000845,AAC13317,AAG02373,EAW59625,EAW59626,AAH02415,CAG30260,CAG30386,CAG33210,AAB63956,P30712,Q6IB75,Q6ICJ4,CAK54510,CAK54528,CAK54809,CAK54827,ABM81668 Hs.654462 GDB:376372 protein-coding 1625818 GSTT2B glutathione S-transferase theta 2B (gene/pseudogene) 12477932,11181995,9729470,7789971 653689 NM_001080843,AF057175,AF240786,AP000350,AP000351,BC071700 NP_001074312,AAH71700 Hs.656498 GSTT2P|MGC87963 protein-coding 1602006 GSTTP1 glutathione S-transferase theta pseudogene 1 12477932 25774 NR_003081,AP000351,CH471095,AL050257,BC096726,BC098108,BC098364,BC099710 EAW59627,CAB43359,AAH96726,AAH98364,AAH99710,A8MPT4,Q9Y3K2 Hs.699032 HS322B1A|MGC119755|MGC119756 pseudo 1641970 GSTTP2 glutathione S-transferase theta pseudogene 2 653399 NR_003082,AP000351,AK127991 Hs.652398 FLJ46109 pseudo 1352057 GSTZ1 glutathione transferase zeta 1 (maleylacetoacetate isomerase) This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme also plays a significant role in the catabolism of phenylalanine and tyrosine. Thus defects in this enzyme may lead to severe metabolic disorders including alkaptonuria, phenylketonuria and tyrosinaemia. Several transcript variants of this gene encode multiple protein isoforms. 1580863 11737895,11692075,11640913,11327815,10739172,9925947,9815194,9531472,15889141,12477932,9396740,10373324,9417084,17034008,16609361,16189514,15489334,15288444,15173170,14702039,12508121,12485442 2954 AY316305,CH471061,NM_145870,NM_145871,NM_001513,AC007954,AF053545,AF098318,AB209360,AJ001838,AK094344,BC001453,BC052245,BE958109,BG330365,BI559916,BI829992,CR456987,CR609385,CR613546,CR622694,CR624227,U86529 AAD43007,AAP69526,EAW81278,EAW81279,NP_665877,NP_665878,NP_001504,AAF62559,AAC33591,O43708,Q59FU9,Q6IB17,EAW81280,EAW81281,BAD92597,CAA05045,AAH01453,CAG33268,AAB96392 Hs.655292 GDB:9956548 GSTZ1-1|MAAI|MAI|MGC2029 protein-coding 1320681 GSX1 GS homeobox 1 1580863 15057823,11731616 219409 NM_145657,AB044158,AL390738,CH471075,AB044157 NP_663632,BAB78693,CAC12721,EAX08418,BAB78692,Q9H4S2,Q9UD62 Hs.351785 GSH1|Gsh-1 protein-coding 1602642 GSX2 GS homeobox 2 11861295,15489334,12477932,12205114 170825 NM_133267,AC110298,AF306344,AF439445,CH471057,AB028838,BC075089,BC075090 NP_573574,AAK00880,AAM08285,EAX05456,BAB84822,AAH75089,AAH75090,Q9BZM3,ABZ92381 Hs.371899 GSH2 protein-coding 1346537 GTA galactosyltransferase activator 1580863 3097639 2955 M14624 AAA35488,Q13540 GDB:120631 GGTB1 protein-coding 1354274 GTDC1 glycosyltransferase-like domain containing 1 15068588,14702039,12477932 79712 NM_024659,NM_001006636,AC009957,AC010681,AC016910,CH471058,AB112440,AB201269,AF090899,AK021815,AK091684,AK291357,AY281366,BC017741,BC061699,BX647436,BX647773 NP_078935,NP_001006637,AAX93056,AAX93131,AAY14764,EAX11579,EAX11580,EAX11581,EAX11582,EAX11583,EAX11584,EAX11585,BAE16560,AAF24023,BAB13904,BAF84046,AAQ16408,AAH17741,AAH61699,Q4AE62,Q9UI81 Hs.44780 mat-Xa protein-coding 733620 GTF2A1 general transcription factor IIA, 1, 19/37kDa 1580863 8224850,8006019,9405375,8946909,1939271,2449431,17681538,17596959,17081983,16537915,15489334,15257296,14702039,14570910,12972251,12538582,12508121,12477932,12054857,11564872,11509574,11340159,11278496,10570139,10454579,10364255,9812988,9618479,9603936,8889548,8577725,8224848,7958900,7958899,7724559,1876184,8849451,8764062,10567404,17353931,15601843 2957 NM_201595,NM_015859,AC010582,AL136040,CH471061,AK021641,BC050703,BC107155,BC107156,BX493028,CB240876,CR617713,D14886,D14887,X75383,X77225 NP_963889,NP_056943,AAF26776,EAW81334,EAW81335,AAI07156,AAI07157,BAA03603,BAA03604,CAA53151,CAA53152,CAA54442,P52655,ABZ92147,ABZ92422 Hs.592334,Hs.593630 GDB:269814 MGC129969|MGC129970|TF2A1|TFIIA general transcription factor 2a, 1 protein-coding 1602495 GTF2A1L general transcription factor IIA, 1-like The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of TFIIA on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. 16646664,15489334,16525715,12477932,12107178,11889132,11784080,11159353,9482861,9373149,8759016,8125298,10364255,16966320,16189514 11036 NM_172196,NM_006872,AC073082,AC087816,CH471053,AF106857,AI037906,AK223350,BC025991,BC064585,BG717289 NP_751946,NP_006863,EAX00193,EAX00194,AAD39634,BAD97070,AAH25991,AAH64585,Q53FD9,Q5D050,Q9UNN4,ABM82492,ABM85682 Hs.44385 ALF|MGC26254 protein-coding 737167 GTF2A2 general transcription factor IIA, 2, 12kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM] 1580863 8626665,7724559,9405375,7958899,8946909,1939271,2449431,7958900,15489334,14570910,12477932,12107178,11564872,11509574,11340159,11005381,10570139,10567404,10364255,9603936,8849451,8764062,8577725,8224850,8224848,17353931,16189514 2958 NM_004492,AC092755,CH471082,BC000287,BC001919,BT007362,CR542192,U14193,U21242,X81713 ABM82171,ABM85357,NP_004483,EAW77573,EAW77574,AAH00287,AAH01919,AAP36026,CAG46989,AAA64951,AAB58247,CAA57357,P52657,Q6FGB5 Hs.512934 GDB:390937 HsT18745|TF2A2|TFIIA general transcription factor iia, 2 (12kd subunit) protein-coding 731364 GTF2B general transcription factor IIB This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. 1580863 7671313,8006019,15207693,9405375,8946909,1939271,2449431,16878124,16710414,16595664,15989968,15635413,15489334,15342556,15249124,15037660,15024075,14963322,14641108,14612417,14585974,12972613,12578358,12931194,12791683,12665589,12535529,12529369,12477932,12392551,12167624,12079343,11959865,11149922,11118327,11113176,11080476,11045620,11029584,11005381,10704334,10478848,10409729,10359081,10220372,9892017,9874563,9841876,9812988,9765293,9765201,9722567,9292011,9267036,9121429,9058380,8889549,8870495,8849451,8800208,8754792,8662660,8598193,8566795,8413269,8162052,7913207,7848298,7757816,7707528,7707527,7706261,7675079,7651839,7641693,7609079,7608968,7597030,1946368,1876184,1517211,15353294,15265780,15142377,11864601,11782371,12660246,9159119,7642649,15710329,8621548 2959 NM_001514,AL445991,CH471097,AA031701,AI457606,AK289822,BC020597,BP379342,CR590496,CR592227,CR598774,CR600115,CR619060,F07886,M76766,S44184 NP_001505,EAW73159,EAW73160,BAF82511,AAH20597,AAA61149,AAB23144,Q00403,Q5JS28,Q5JS29,ABZ92423 Hs.481852 GDB:128734 TF2B|TFIIB protein-coding 1315703 GTF2E1 general transcription factor IIE, polypeptide 1, alpha 56kDa 1580863 7926747,9405375,8946909,1956398,1939271,2449431,18354501,18160537,16344560,15385556,12665589,11509574,11416139,11113176,10827951,9765293,9677423,9632676,9418848,9373149,9305922,9121429,9054383,8934526,8849451,8162052,8152490,8125298,7829083,7667268,7651391,3029109,2251258,2026628,1956403,1454543,9159119 2960 NM_005513,AC117472,CH471052,AK223401,BC005917,DA498425,S67859,X63468 NP_005504,EAW79519,BAD97121,AAH05917,AAB20413,CAA45068,P29083,Q05DN6,Q53F88,AAI56225,AAI56998 Hs.445272 GDB:136840 FE|TF2E1|TFIIE-A protein-coding 1320859 GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa 1580863 9271120,7926747,8999876,9405375,8946909,1956398,1939271,2449431,15489334,12665589,12477932,11509574,11416139,11113176,10827951,10777215,9677423,9618479,9418848,9121429,9089417,9054383,8934526,8849451,8786118,8152490,7876263,7651391,3029109,2251258,2026628,1956404,10792464 2961 AC102945,AC103959,AF292062,CH471080,BC001775,BC030572,CR594329,CR606311,CR606679,CR611388,CR626793,S67861,X63469,NM_002095 CAA45069,P29084,NP_002086,AAG39077,EAW63446,EAW63447,EAW63448,EAW63449,AAH30572,AAB20414 Hs.77100 GDB:129080 FE|TF2E2|TFIIE-B protein-coding 1343690 GTF2F1 general transcription factor IIF, polypeptide 1, 74kDa 1580863 7854423,7590250,9405375,12226669,8946909,1734284,1939271,2449431,9409616,9512541,9790902,12676794,1734283,18284209,17848138,17081983,16964243,16905668,16097034,16083285,15831464,15635413,15489334,15351637,15023052,12732728,12721286,12591941,12578358,12477932,12354769,12351650,11509574,11248041,11183778,11118325,11113176,10777215,10704353,10567562,10454543,10428810,9765293,9765201,9677423,9660973,9265625,9238003,9121429,8934526,8849451,8755740,8662660,8625415,8486367,8441635,8106390,7667268,7566098,1559613,12775419,12089333,15723517,9710619,9159119,16189514,10734072,15893730 2962 NM_002096,AC011491,CH471139,AA323384,BC000120,BC013007,BT007097,CR456798,X64002,X64037 NP_002087,EAW69098,EAW69099,AAH00120,AAH13007,AAP35761,CAG33079,CAA45404,CAA45408,P35269,Q6IBK5,ABM92214,ABM84692 Hs.68257 GDB:135675 BTF4|RAP74|TF2F1|TFIIF protein-coding 733447 GTF2F2 general transcription factor IIF, polypeptide 2, 30kDa 1580863 7929273,9405375,12226669,8946909,1939271,2449431,9409616,9512541,8628277,8577725,8441635,8162052,3860504,2477704,1840667,1559613,12775419,12089333,16189514,8662660,9790902,12676794,16169872,16083285,15635413,15489334,14612417,12737519,12477932,11278533,11113176,10704353,10523626,10454543,9765201,9689043,9677423,9295363,9265625,9238003,9121429,9089417,8934526,8849451,8794892,8758937 2963 NM_004128,AL138693,AL138963,CH471075,AK291545,BC001771,BT019525,CR598374,CR609785,X16901,X59745 NP_004119,CAH72459,CAH72032,EAX08726,EAX08727,EAX08728,EAX08729,BAF84234,AAH01771,AAV38332,CAA34775,CAA42419,P13984,Q5W0H3 Hs.654582 GDB:135676 BTF4|RAP30|TF2F2|TFIIF protein-coding 1347219 GTF2F2L general transcription factor IIF, polypeptide 2-like 14506279,12370301,9847074,7835093 2964 NG_003013,AC093908 GDB:371777 TFIIF pseudo 1317878 GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa 1580863 14500720,12665589,12477932,12453423,12392551,12379213,11266437,11259578,7533895,9118947,8652557,9405375,10583946,8692841,8946909,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,18270339,15909982,15625236,15489334,15220921,14702039,14569024,11239393,11118327,11113176,11071939,10949034,10866664,10777215,10734143,10734072,10490622,10467411,10438593,10428966,10082552,10066804,9837719,9774388,9765293,9765201,9710619,9698541,9651670,9630526,9570510,9334327,9311822,9184228,9130708,9121429,9054383,8934526,8849451,8692842,8628270,8194528,8162052,7935417,7789978,7724549,1529339 2965 AAB23294 NM_005316,AC084117,AJ131959,AY163770,CH471064,AK027003,AK127204,BC000365,BC004452,CR457368,CR600783,M95809 NP_005307,CAC00685,AAN46740,EAW68399,EAW68400,EAW68401,BAB15621,AAH00365,AAH04452,CAG33649,AAA58399,AAB23294,P32780,Q6I9Y7,ABM82334,ABM85510 Hs.577202 GDB:135035 BTF2|TFB1|TFIIH protein-coding 1321435 GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. 1580863 8652557,8194529,9405375,10583946,8946909,1939271,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,17332483,15790571,15635413,15489334,15220921,14980221,14569024,12477932,12080057,11319235,10866664,10438593,10082552,10066804,9771713,9765201,9651670,9570510,9503025,9334327,9311822,9184228,9130708,9121429,9118947,9063743,9054383,8981949,8934526,8870499,8849451,8692842,8692841,8628270,7664335,7552146,11062469,16189514 2966 AC044797,AC142525,U80017,AF078847,BC005345,BG283896,BM083743,BT006773,U21910,U21911,Z30094,NM_001515 NP_001506,AAC52046,AAD44479,AAH05345,AAP35419,AAA64503,AAA64502,CAA82910,Q13888,Q86U80,AAI40304,AAI41604 Hs.191356,Hs.655216 GDB:370919 BTF2|BTF2P44|MGC102806|T-BTF2P44|TFIIH protein-coding 1313552 GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa 1580863 8652557,8194529,9405375,10583946,2449431,9512541,9582279,9790902,10214908,11313499,12393749,12646563,18270339,15489334,15220921,14569024,12477932,8946909,1939271,10866664,10673506,10438593,10082552,10066804,9765201,9651670,9570510,9334327,9311822,9184228,9121429,9118947,9054383,8934526,8849451,8692842,8692841,8628270,7724549 2967 NM_001516,AC117503,AF548661,CH471054,BC013216,BC014570,BC031030,BC039726,BC047868,BC065250,CR593503,Z30093 NP_001507,AAN40702,EAW98426,EAW98427,EAW98428,EAW98429,AAH31030,AAH39726,AAH47868,AAH65250,CAA82909,Q13889,Q8NEI1,ABZ92424 Hs.355348 GDB:370922 BTF2|TFB4|TFIIH protein-coding 1352501 GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 1331680,1580863 9582279,9790902,10214908,11313499,12393749,12646563,18354501,17466625,17242193,16874302,16702430,16246722,15601838,15533047,15489334,15220921,14569024,12590132,12477932,11113176,10866664,10677310,10438593,17466626,9118947,9405375,10583946,8946909,1939271,2449431,9512541,9159119,9765201,9651670,9570510,9373149,9334327,9311822,9184228,9130708,9121429,9054383,8934526,8849451,8692842,8628270,8125298,11062469,10082552,10066804 1331680 2968 AB032121,AB088103,AB103609,AB202101,AL662854,AL662870,AL669830,AL773541,AY124590,BA000025,BX927194,CH471081,CR759747,CR936875,AK222607,NM_001517,BC004935,BC016302,BI460355,BT007321,CR593757,CR597850,CR598798,CR606017,CR606652,CR609671,CR610075,CR619568,CR622991,Y07595 BAD96327,NP_001508,BAC54936,BAF31271,BAE78622,CAI17435,CAI18003,CAI18452,AAM64222,BAB63317,CAQ09772,EAX03347,CAQ06761,CAQ10923,AAH04935,AAH16302,AAP35985,CAA68870,Q53HH3,Q76KU4,Q92759,ABM84091,ABM87462 Hs.485070 GDB:6262166 TFB2|TFIIH protein-coding 1345695 GTF2H5 general transcription factor IIH, polypeptide 5 18270339,17350038,16669699,16427011,15489334,15220921,14702039,12477932,11062469,14574404 404672 NM_207118,AL590703,CH471051,CS300615,AJ634743,AK055106,BC004568,BC038848,BC056906,BC060317 NP_997001,CAH70241,EAW47663,CAK32279,CAG25512,AAH56906,AAH60317,Q6ZYL4,ABZ92133 Hs.356224 C6orf175|TFB5|TGF2H5|TTD|TTD-A|TTDA|bA120J8.2 protein-coding 1347498 GTF2I general transcription factor II, i This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Four transcript variants encoding different isoforms have been found for this gene. 1580863 9334314,9012831,15231747,17353931,17081983,17023658,16964243,16943425,16738337,16314517,16166082,16055724,15941713,15767439,15664986,15635413,15561718,15489334,15302935,14743216,14702039,14623887,14556246,12865760,12853948,12493763,12477932,12393887,12239342,12193603,12082086,11934902,11313464,11287625,10854432,10648599,10373551,9837922,9671454,9584171,9466987,9384587,8377829,1961251,11373296 2969 NM_032999,NM_033001,NM_033000,NM_001518,AC004883,AC005231,AC083884,CH471200,AF015553,AF035737,AF038967,AF038968,AF038969,AK057670,AK292832,BC004472,BC070484,BC099907,BT007450,U77948,Y14946 NP_127492,NP_127494,NP_127493,NP_001509,AAL93085,AAS07460,AAS07461,AAS07462,AAS07463,AAS07464,EAW69594,EAW69595,EAW69596,EAW69597,EAW69598,AAB70791,AAC08312,AAC08313,AAC08314,AAC08315,BAF85521,AAH04472,AAH70484,AAH99907,AAP36118,AAB48826,CAA75163,P78347,Q499G6,Q75M85,Q75M86,Q75M87,Q75M88,Q86U51 Hs.647041 GDB:7009850 BAP-135|BAP135|BTKAP1|DIWS|IB291|SPIN|TFII-I|WBS|WBSCR6 protein-coding 1345691 GTF2IP1 general transcription factor II, i, pseudogene 1 14702039,12477932,9466987 2970 NR_002206,AC124781,AC138783,AF036613,AK057750,AK093663,AK095645,AK096095,AK098799,BC045632,CR599201 Hs.647041,Hs.654705,Hs.702022 GDB:7009852 WBSCR7 pseudo 1343970 GTF2IP2 general transcription factor II, i, pseudogene 2 338448 733836 GTF2IRD1 GTF2I repeat domain containing 1 The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants. 1580863 9774679,15231747,10575229,11438732,17346708,17081983,16494860,16293761,15941713,15527767,15489334,15302935,12865760,12857748,12853948,12477932,12475981,12239342,12193603,10642537,10573005,10198167,16189514 9569 NM_016328,NM_005685,AC004851,AC005015,AC005231,CH471200,AB209389,AF089107,AF104923,AF118270,AF151354,AF156489,AY648295,BC018136,CR594398,CR622355 NP_057412,NP_005676,AAS00361,AAS00362,AAP21877,EAW69599,EAW69600,EAW69601,BAD92626,AAF21796,AAD27668,AAD14687,AAF19786,AAF17358,AAT68469,AAH18136,Q59FS0,Q6DSU6,Q75MX6,Q9UHL9,ABM82097,ABM85280 Hs.647056 GDB:9957368 CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1 general transcription factor ii i repeat domain-containing 1 protein-coding 1604573 GTF2IRD2 GTF2I repeat domain containing 2 This gene is unusual in that its coding sequence is mostly derived from Charlie8 repeat elements. However, there is mRNA and EST evidence to suggest that this gene is transcribed, and the encoded protein has a homolog in mouse, with which it shares 78% sequence identity. The exact function of this gene product is not known. It is inferred to be a transcription factor based on the presence of GTF2I-like repeats (containing helix-loop-helix motifs), also found in other proteins such as GTF2IRD1 and GTF2I. These three genes are clustered together on chr 7q11.23. 15388857,15243160,15100712,14702039,12477932,9373149,8125298 84163 NM_173537,AC004166,AC083884,AK095257,AK095572,AK098269,AK225845,AL833932,AL834153,AY260739,AY312853,AY312854,AY336979,AY336980,AY336981,BC038098,BC047706,BC061590,BC067859 NP_775808,BAC04576,CAD38788,CAD38861,AAP14955,AAQ19673,AAQ19674,AAR36865,AAR36866,AAR36867,AAH47706,AAH61590,AAH67859,Q86UP8 Hs.647017,Hs.647039 FLJ21423|FLJ37938|GTF2IRD2A|MGC75203 protein-coding 1604691 GTF2IRD2B GTF2I repeat domain containing 2B This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 15388857,15146197,15100712,12477932 389524 NM_001003795,AC124781,AK025076,AK291431,AY312850,AY312851,BC048252,BX647624,CN286208 NP_001003795,BAB15060,BAF84120,AAR36863,AAR36864,AAH48252,Q6EKJ0,Q86Y00 Hs.647027,Hs.647039 protein-coding 1602026 GTF2IRD2P GTF2I repeat domain containing 2 pseudogene 15100712 401375 NR_002164,AC006995,AY312852 Hs.651178 pseudo 732489 GTF3A general transcription factor IIIA The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. 1580863 1587861,8063702,7789179,15342556,12711686,11814676,10756201,9171097,8610146,7622052,2912980,12775724,11604514 2971 XM_001715623,XM_001716951,XM_001717641,NM_002097,AL137059,CH471075,AK057993,AW627732,BP254755,CR595440,CR596081,CR600569,CR603004,CR612806,CR614643,D32257,U14134,U20272 XP_001715675,XP_001717003,XP_001717693,NP_002088,EAX08403,EAX08404,EAX08405,BAA06988,AAA21873,AAA75623,Q92664 Hs.445977 GDB:434744 AP2|TFIIIA general transcription factor iii a protein-coding 1351483 GTF3BAP1 general transcription factor IIIB, associated protein 1 9281 GDB:9955609 1342932 GTF3BAP2 general transcription factor IIIB, associated protein 2 9280 GDB:9955606 1347967 GTF3BAP3 general transcription factor IIIB, associated protein 3 9279 GDB:9955604 736274 GTF3C1 general transcription factor IIIC, polypeptide 1, alpha 220kDa 632988,1580863 17409385,17081983,16964243,15489334,15302935,14702039,12711686,12477932,11741993,10493829,9660958,8164661,8127861,1447193,1403646,10523658,10373544,11965497 632988 2975 NM_001520,AC002303,AC002551,AC025275,CH471145,AK091032,AK123999,AK131479,BC044857,BC052642,BC137229,BC151847,BX648143,CR627430,U02619,U06485 AAA85638,Q12789,Q6AHZ7,Q6AWA4,Q6ZMV1,Q7Z7H4,NP_001511,AAB67637,AAC05811,EAW55744,EAW55745,BAD18624,AAH44857,AAH52642,AAI37230,CAH10771,CAH10517,AAA17985 Hs.371718 GDB:223512 DKFZp686A111|TFIIIC|TFIIIC220|TFIIICalpha general transcription factor iii c 1 protein-coding 1343562 GTF3C2 general transcription factor IIIC, polypeptide 2, beta 110kDa 1580863 17409385,7729686,17081983,16964243,16822860,15489334,15342556,12477932,10523658,10373544,9660958,9171097,9169441,9110174,8619474,7584028,7584026,1403646,16189514 2976 NM_001035521,NM_001521,AC013413,AC074117,AC109828,CH471053,AF054988,BC000212,BC020981,BP249089,BP278201,BT009799,BX647092,CR618803,D13636 NP_001030598,NP_001512,AAY24299,AAY24049,EAX00594,EAX00595,EAX00596,AAC09349,AAH00212,AAH20981,AAP88801,BAA02800,Q53QN0,Q53SY8,Q8WUA4 Hs.75782 GDB:9784271 KIAA0011|TFIIIC-BETA|TFIIIC110 protein-coding 1319385 GTF3C3 general transcription factor IIIC, polypeptide 3, 102kDa 1580863 17409385,15489334,14702039,12477932,11965497,10373544,8573604,1403646,17353931 9330 NM_012086,AC012486,CH471063,AF085850,AF133123,AF465407,AK025560,AK027050,AL137453,BC015995,BC026889,BC036952,BC043347,S81493 NP_036218,AAX88853,EAW70132,EAW70133,EAW70134,AAD41475,AAL73493,BAB15638,CAB70745,AAH15995,AAH43347,Q4ZG48,Q9Y5Q9 Hs.470996 GDB:9956006 TFIIIC102|TFIIICgamma|TFiiiC2-102 protein-coding 1349733 GTF3C4 general transcription factor IIIC, polypeptide 4, 90kDa 1580863 17409385,10523658,17081983,15489334,15302935,14702039,12477932,10373544,1403646 9329 NM_012204,AL160165,CH471090,AF142328,AK024655,AK027509,BC011619,BC022787,BC060821,BC094774,BC104755,BC112245,CX755755 NP_036336,CAH70534,EAW88010,EAW88011,AAF05087,AAH11619,AAH22787,AAH94774,AAI04756,AAI12246,Q05CN7,Q5VZJ7,Q5VZJ8,Q9UKN8 Hs.656646 GDB:9956004 FLJ21002|KAT12|MGC138450|TFIII90|TFIIIC90|TFIIICdelta|TFiiiC2-90 protein-coding 1313045 GTF3C5 general transcription factor IIIC, polypeptide 5, 63kDa 17409385,16344560,15489334,14702039,12477932,10523658,10373544,9373149,9110174,8619474,8125298,1403646 9328 NM_012087,NM_001122823,AL162417,CH471090,AF133124,AJ420443,AK000194,AK024510,AK055092,AK097295,AK225761,AY007123,BC006409,BC009741,BC011355,BC017337,BC030157,CR604474,CR610972,CR614381,DB194811 NP_036219,NP_001116295,CAI13405,CAI13406,CAI13407,CAI13408,CAI13409,CAI13410,CAI13411,EAW88026,EAW88027,EAW88028,EAW88029,AAD41476,BAA91001,BAC04993,AAG01991,AAH09741,AAH11355,AAH17337,AAH30157,Q5T7U0,Q5T7U1,Q5T7U2,Q5T7U3,Q5T7U4,Q9NXK9,Q9Y5Q8,ABM82997,ABM86191 Hs.495417 GDB:9956003 FLJ20857|TFIIIC63|TFIIICepsilon|TFiiiC2-63 protein-coding 1316627 GTF3C6 general transcription factor IIIC, polypeptide 6, alpha 35kDa RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM] 17409385,15489334,14702039,12477932 112495 NM_138408,AL357515,CH471051,AF361492,AF361496,AK057977,BC011593,BC104655,CR615266,EF137904 NP_612417,CAH73393,EAW48305,AAL57217,AAL57221,BAB71624,AAH11593,AAI04656,ABO33431,Q3SWV5,Q969F1 Hs.418520 C6orf51|TFIIIC35|bA397G5.3 protein-coding 1315559 GTPBP1 GTP binding protein 1 This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. 1580863 10938096,10833435,10591208,9820815,9070279,17081983,15489334,15461802,14702039,12477932,11042152 9567 NM_004286,AL021707,CH471095,AF077204,AF370385,AI570660,AK095950,AK096647,BC001701,BC014075,BC016030,BC046350,BF001482,CR456501,U87964 NP_004277,EAW60261,EAW60262,EAW60263,EAW60264,AAD26999,AAQ15221,AAH14075,AAH46350,CAG30387,AAB51273,O00178,Q6PI39,Q71RF2,Q9Y2S8,CAK54529,CAK54828 Hs.276925 GDB:9957363 GP-1|GP1|HSPC018|MGC20069 protein-coding 1606997 GTPBP10 GTP-binding protein 10 (putative) Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM] 17054726,16189514,14702039,12477932 85865 NM_001042717,AC002064,AC006153,CH236949,CH471091,AF351613,AK095561,AK125553,AL525056,BC004923,BC021573,NM_033107,BC107714,CR605742,CR614815,CR621162,CR933597 NP_149098,NP_001036182,AAD15550,EAL24164,EAW76878,EAW76879,EAW76880,EAW76881,EAW76882,AAN76513,BAC04573,AAH04923,AAH21573,AAI07715,CAI45922,A4D1E9 Hs.709271 DKFZP686A10121|DKFZp686A10121|FLJ38242|MGC104191|ObgH2|UG0751c10 protein-coding 1314943 GTPBP2 GTP binding protein 2 GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM] 1580863 10833435,15489334,14702039,14574404,12477932,11054535,8889548 54676 NM_019096,AL353602,CH471081,AB024574,AF168990,AJ420518,AK000430,AK290267,AL834331,BC020980,BC028347,BC032315,BC064968,BU736981,CR604253,CR607185 NP_061969,CAC36269,CAI12782,CAI12783,CAI12784,CAI12785,EAX04213,EAX04214,EAX04215,EAX04216,EAX04217,EAX04218,BAB12431,AAF78884,BAA91160,BAF82956,CAD38999,AAH20980,AAH28347,AAH64968,Q9BX10,Q9BX12,Q9P1K2 Hs.485449 GDB:10450565 MGC74725 protein-coding 1313350 GTPBP3 GTP binding protein 3 (mitochondrial) 11256614,16713569,16189514,15542390,15489334,14702039,14680828,12477932,12370316,1290633 84705 NM_133644,NM_032620,AC010463,AF361481,CR624592,CH471106,AF360742,AF360743,AF360744,AK027606,AK091035,AK291929,AY078987,AY078988,BC008924,BC017207,BC019261,CR593057 NP_598399,NP_116009,Q969Y2,Q96H44,ABM83143,ABM86339,AAK37568,EAW84597,EAW84598,EAW84599,AAK39555,AAK39556,AAK39557,BAB55228,BAF84618,AAL85492,AAL85493,AAH08924,AAH17207,AAH19261 Hs.334885 FLJ14700|GTPBG3|MSS1|MTGP1|THDF1 protein-coding 732875 GTPBP4 GTP binding protein 4 GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. 'Active' in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. 632611,1580863 17210637,17353931,17081983,15489334,14702039,12477932,12429849,11316846,9373149,8125298 632611 23560 NM_012341,AC022536,AF065393,AL359878,CH471072,AF120334,AF325353,AI740474,AK001548,AK001552,AK097093,AK222861,BC008683,BC021243,BC033784,BC038975,CR613289 NP_036473,AAC24364,CAI13664,CAI13665,EAW86526,EAW86527,EAW86528,AAD09830,AAK13444,BAA91752,BAD96581,AAH33784,AAH38975,O60747,Q53GS0,Q5T3R7,Q5T3R8,Q8N4P8,Q9BZE4 Hs.215766 CRFG|FLJ10686|FLJ10690|FLJ39774|NGB|NOG1 g protein-binding protein crfg protein-coding 1344224 GTPBP5 GTP binding protein 5 (putative) Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM] 1580863 17054726,16344560,15489334,14702039,12477932,11780052 26164 NM_015666,AL078633,CH471077,AK001603,AK124572,AL117498,BC007885,BC012073,BC036716,BC040178,BI087669,BU857001,CA976010,CB127579,DA970672 NP_056481,CAC04015,CAI18834,EAW75386,EAW75387,EAW75388,BAA91783,CAB55963,AAH36716,AAH40178,Q49AE0,Q5JXI9,Q5JXJ0,Q9H4K7 Hs.340636 GDB:11506115 FLJ10741|MGC29512|ObgH1|dJ1005F21.2 protein-coding 1353569 GTPBP6 GTP binding protein 6 (putative) 737633,1580863 9466997,12477932,9373149,8125298 737633 8225 NM_012227,BX000483,CH471225,AK024630,AK026462,AK074528,AK223412,BC014636,BT007360,Y14391 NP_036359,CAI41972,EAW66820,BAC11041,BAD97132,AAH14636,AAP36024,CAA74749,O43824,Q8N2Q6 Hs.437145,Hs.633109 FLJ20977|FLJ22809|FLJ90047|PGPL protein-coding 1606015 GTPBP8 GTP-binding protein 8 (putative) 14702039,12477932,11042152 29083 NM_014170,NM_138485,AC074044,CH471052,AF161484,AI367201,AK093419,AK289611,AK292651,BC000003,BC010137,BC037163,BG655089,BI830308,BX354218,CA429378,CK818022,CR594357,CR624891 NP_054889,NP_612494,EAW79652,EAW79653,EAW79654,EAW79655,EAW79656,AAF29099,BAF82300,BAF85340,AAH10137,AAH37163,Q5I0Y4,Q8N3Z3,Q9P025,ABM83233,ABM86432 Hs.127496 HSPC135 protein-coding 1348058 GTS Gilles de la Tourette syndrome 2973 GDB:118807 1349539 GTSCR1 Gilles de la Tourette syndrome chromosome region, candidate 1 12682296 220158 Q86UQ5 XM_496277,XM_936478,AC091646,AY262164 XP_496277,XP_941571,AAP13553,Q86UQ5 Hs.448217 protein-coding 1350308 GTSE1 G-2 and S-phase expressed 1 The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. 1580863 10974554,16964243,15998911,15790807,15489334,15302935,14707141,14702039,12750368,12477932,10984615,10591208,9373149,8889548,8125298 51512 AL031588,AL031844,CH471138,Z93024,AF223408,AK025563,AK222806,AY927426,AY927427,BC006325,BC069212,BC075828,BE390871,BG718574,NM_016426,BG770679,BQ049956,BX329502,CA419902,CF145254,CT841519 NP_057510,EAW73418,EAW73419,EAW73420,EAW73421,CAQ10552,AAF31459,BAD96526,AAH06325,AAH75828,CAJ86449,Q20WK2,Q9NYZ3,CAK54530,CAK54829,ABM83697,ABM87019 Hs.386189 GDB:10013753 B99 protein-coding 1605883 GTSF1 gametocyte specific factor 1 15489334,14702039,12477932 121355 NM_144594,AC079313,CH471054,AK057504,AK098819,BC021179,BC105587 NP_653195,EAW96783,EAW96784,EAW96785,BAC05423,AAH21179,AAI05588,Q8WW33 Hs.524476 FAM112B|FLJ32942 protein-coding 1314719 GTSF1L gametocyte specific factor 1-like 12477932 149699 NM_001008901,NM_176791,AL121886,CH471077,AA723626,AA813527,AK058060,BC040049,BQ428678,BX355734,CR613553 NP_001008901,NP_789761,CAC08393,CAI18926,EAW75949,EAW75950,AAH40049,Q5JWH5,Q9H1H1 Hs.447626,Hs.694014 GDB:11505250 C20orf65|FAM112A|MGC50820|dJ1028D15.4 chromosome 20 open reading frame 65|family with sequence similarity 112, member A protein-coding 1318644 GUCA1A guanylate cyclase activator 1A (retina) 1599353,1580863 9425234,7983048,15953638,15790869,15735604,15505030,15504042,15489334,14574404,12732716,12477932,12445466,12390029,11484154,11146732,11108966,9702199,9651312,9119368 1599353 2978 NM_000409,AL096814,CH471081,L36861,AK125780,BC031663,L36859 NP_000400,CAB89167,CAD92530,CAO03542,EAX04084,AAA60542,AAH31663,AAA60541,P43080,ABM82228,ABM85413 Hs.92858 GDB:132137 COD3|GCAP|GCAP1|GUCA|GUCA1 protein-coding 1317826 GUCA1B guanylate cyclase activator 1B (retina) 1580863 1409606,1327879,15901556,15505030,15452722,14574404,12477932,12107411,10507726,9931003,9698373,9119368,9114059 2979 NM_002098,AF173227,AL096814,CH471081,BC113044,BQ636025,BX537393 NP_002089,AAD47279,CAB89166,EAX04085,AAI13045,CAD97635,Q7Z3V9,Q9UMX6,AAI66640 Hs.446529,Hs.654550 GDB:5203579 DKFZp686E1183|GCAP2|GUCA2 protein-coding 1350559 GUCA1C guanylate cyclase activator 1C 1580863 10037746,16626734,12477932,11860507 9626 NM_005459,AC016948,AC080135,AF110001,CH471052,AF110002,AF110003,BC103993,BC103994 NP_005450,AAD19943,EAW79715,EAW79716,AAD19944,AAD19945,AAI03994,AAI03995,O95843,Q3SY23 Hs.233363 GDB:9957820 GCAP3|MGC120158|MGC120159 protein-coding 735414 GUCA2A guanylate cyclase activator 2A (guanylin) 1580863 8095028,7947768,15901896,15780094,14988827,12707255,12463760,12163390,11889121,10601865,9272623,7892222,7601480,7566098,1409606,1327879 2980 NM_033553,AC114492,CH471059,X74322,M95174,M97496,T28160 NP_291031,EAX07168,CAC22258,AAA58625,AAA35915,Q02747,AAI40429,AAI56567 Hs.778 GDB:136460 GUANYLIN|GUCA2|STARA protein-coding 736719 GUCA2B guanylate cyclase activator 2B (uroguanylin) Uroguanylin and guanylin (GUCA2A; MIM 139392), peptide homologs of the bacterial heat-stable enterotoxins (e.g., the E. coli ST toxin; STa), are endogenous activators of the guanylate cyclase-2C receptor (GUCY2C; MIM 601330), which synthesizes cyclic GMP (cGMP), a key component of several intracellular signal transduction pathways.[supplied by OMIM] 704404,1580863 8605041,18037771,17582287,15780094,15489334,12548407,12477932,11889121,11431160,11380922,9774236,9698373,9622502,9328941,9268639,8519795,8141334,7589507 2981 AC114492,CH471059,U55058,Z70295,BC069301,BC093779,BC093781,U34279,Z50753,NM_007102 NP_009033,EAX07169,AAC51729,CAA94311,AAH69301,AAH93779,AAH93781,AAC50416,CAA90629,Q16661 Hs.32966 GDB:6053705 GCAP-II|UGN protein-coding 732908 GUCY1A2 guanylate cyclase 1, soluble, alpha 2 Soluble guanylyl (or guanylate) cyclases are heterodimeric enzymes consisting of an alpha subunit, such as alpha-2 (GUCY1A2), and a beta subunit, typically beta-1 (GUCY1B3; MIM 139397), which are activated by nitric oxide (NO) and which catalyze conversion of GTP to 3-prime, 5-prime-cyclic GMP and pyrophosphate (Harteneck et al., 1991 [PubMed 1683630]).[supplied by OMIM] 1580863,1300048 1683630,15094474,11752394,11572861,11158065,10512742,8660992,7673142 2977 NM_000855,AP001282,AP001881,AP003078,AP005014,CH471065,BC130484,BC130488,X63282,Z50053 NP_000846,EAW67081,AAI30485,AAI30489,CAA44921,CAA90393,P33402 Hs.654555 GDB:141995 GC-SA2|GUC1A2 soluble guanylyl cyclase alpha2 subunit protein-coding 68653 GUCY1A3 guanylate cyclase 1, soluble, alpha 3 Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha subunit, such as alpha-1 (GUCY1A3), and a beta subunit, typically beta-1 (GUCY1B3; MIM 139397), catalyzes conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM] 1580863,1300048 9742212,1352257,15489334,15201957,14702039,12477932,10828587,10717483,8613461,8097486,15381706 2982 NM_000856,AC104083,AF233750,CH471056,AK096588,AK226125,BC012627,BC028384,BC095395,BX647200,BX649180,CR614534,CR618242,U58855,X66534,Y15723 NP_000847,AAF64043,EAX04892,EAX04893,EAX04894,EAX04895,EAX04896,EAX04897,AAH12627,AAH28384,AAB94794,CAA47145,CAA75738,Q02108,Q6PJR4,Q9NNW8 Hs.24258 GDB:141993 GC-SA3|GUC1A3|GUCA3|GUCSA3|GUCY1A1 protein-coding 732506 GUCY1B2 guanylate cyclase 1, soluble, beta 2 1580863,1300048 10777682,10717006,10677588,10449911,9889008,1980215 2974 NR_003923,AF218383,AL137881,AL160157,CH471075,AF038499,AI247180,CR615161 AAF66105,CAI15432,EAX08865,AAD09440,O75343,Q5T8J7 Hs.411573 GDB:9754252 GC-SB2 pseudo 731814 GUCY1B3 guanylate cyclase 1, soluble, beta 3 Soluble guanylate cyclase (sGC), a heterodimeric protein consisting of an alpha subunit and a beta subunit, typically GUCY1B3, catalyzes conversion of GTP to the second messenger cGMP and functions as the main receptor for nitric oxide (NO) and nitrovasodilator drugs (Zabel et al., 1998 [PubMed 9742212]).[supplied by OMIM] 1580863,1300048 9742212,1352257,16528291,15489334,15381706,12676772,12477932,11572861,10977868,8613461,8097486,1680753 2983 NM_000857,AC104083,AC114761,CH471056,AF020340,BC026332,BC047620,BC060835,X66533 NP_000848,EAX04888,EAX04889,EAX04890,EAX04891,AAB94877,AAH47620,CAA47144,Q02153 Hs.77890 GDB:141992 GC-S-beta-1|GC-SB3|GUC1B3|GUCB3|GUCSB3|GUCY1B1 protein-coding 732111 GUCY2C guanylate cyclase 2C (heat stable enterotoxin receptor) 1580863,1300048 1680854,11950846,16899600,16618413,15825168,14748740,14581363,12649275,12444076,12163327,11889121,11478887,11431160,11042348,10601865,8962140,8661067,8605253,8381596,7761400,1718270 2984 NM_004963,AC007545,AC010168,CH471094,U20230,BC136544,BC136545,M73489,S57551 NP_004954,EAW96324,AAC50381,AAI36545,AAI36546,AAA36655,AAB19934,P25092 Hs.524278 GDB:128987 GUC2C|STAR guanylate cyclase 2c protein-coding 1343485 GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1580863,1599624 9888789,1356371,7777544,18332321,17724218,17684531,17651254,17041576,16505055,16272259,15556616,15512997,15123990,15111605,12623820,12552567,12365911,11709018,11565546,11485301,11035546,10037711,9931003,9698373,9683616,9618177,9391039,9097965,8944027,8889548,8641699,8586428,7806240 1599624 3000 AC104581,AJ222657,CH471108,L26921,BM931704,M92432,NM_000180 NP_000171,CAA10914,EAW90103,AAA60366,AAA60547,Q02846,AAI48422 Hs.592109 GDB:136012 CORD5|CORD6|CYGD|GUC1A4|GUC2D|LCA|LCA1|RETGC-1|ROS-GC1|retGC protein-coding 1606377 GUCY2E guanylate cyclase 2E 8838319 390226 XM_001717418,XM_001134406,XM_001717366,AP001189,AB231718 XP_001717470,XP_001134406,XP_001717418,BAE46879,Q3C1W8 Hs.440026 GDB:5875357 GC-E protein-coding 731765 GUCY2F guanylate cyclase 2F, retinal 1580863,704404,1300048 7777544,17868328,16941478,15772651,9698373,9153227,8838319 2986 NM_001522,AL031387,CH471120,L37378 NP_001513,CAB41303,EAX02681,AAA74451,P51841,AAI56675 Hs.123074 GDB:5875359 CYGF|GC-F|GUC2DL|GUC2F|RETGC-2|ROS-GC2 protein-coding 1606865 GUCY2G guanylate cyclase 2G homolog (mouse) pseudogene 390003 XM_001718434,XM_001732840,XM_001732841 XP_001718486,XP_001732892,XP_001732893 protein-coding 1602319 GUF1 GUF1 GTPase homolog (S. cerevisiae) 17203973,16344560,15489334,14702039,12477932,9373149,8553703,8125298 60558 NM_021927,AC096586,CH471069,AK001607,AK023282,AK025248,AK225314,BC012338,BC036768,BX647242,DA997676 NP_068746,EAW93017,EAW93018,BAB14507,BAB15090,AAH36768,Q8N442 Hs.546419 FLJ13220 protein-coding 1320084 GUK1 guanylate kinase 1 1580863 8663313,15489334,12477932,8647247,6260205,6249178,2164269,211390 2987 AL359510,CH471098,AL832986,BC006249,BC007369,BC009914,BC069001,BC091480,NM_000858,BU162698,BU931096,CR456836,CR542006,L76200,U66895 NP_000849,CAI15061,CAI15062,CAI15063,CAI15064,CAI15065,CAI15066,CAI15067,CAI15068,EAW69851,EAW69852,EAW69853,EAW69854,EAW69855,EAW69856,EAW69857,EAW69858,EAW69859,CAH56207,AAH06249,AAH07369,AAH09914,AAH91480,CAG33117,CAG46803,AAC37598,AAC50659,Q16774,Q5T435,Q658U3,Q6IBG8,Q96IN2 Hs.376933 GDB:119289 GMK protein-coding 1349301 GUK2 guanylate kinase 2 2988 GDB:119290 1349088 GULOP gulonolactone (L-) oxidase pseudogene 14703305,8175804,3214183 2989 NG_001136,AF311103,D17460 GDB:128078 GULO|SCURVY pseudo 1314963 GULP1 GULP, engulfment adaptor PTB domain containing 1 The prompt clearance of cells undergoing apoptosis is critical during embryonic development, normal tissue turnover, inflammation, and autoimmunity. CED6 is an evolutionarily conserved adaptor protein required for efficient engulfment of apoptotic cells by phagocytes.[supplied by OMIM] 1580863 14702039,10574771,15203218,12477932,15749123,11729193,10574763 51454 NM_016315,AC092598,AC104131,AC108493,AC125490,AC133606,CH471058,AB209890,AF075014,AF191771,AF200715,AK023668,AK055718,AL080142,AW149992,BC001103,BC068525,CD627760,CR619595 NP_057399,AAX93242,AAY24122,EAX10913,EAX10914,EAX10915,EAX10916,EAX10917,BAD93127,AAF18975,AAF08006,AAH01103,Q59EC1,Q9UBP9 Hs.470887,Hs.708434 CED-6|CED6|FLJ31156|GULP protein-coding 737258 GUSB glucuronidase, beta The GUSB gene encodes beta-glucuronidase (EC 3.2.1.31), a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (Shipley et al., 1993 [PubMed 7680524]). It is a tetrameric glycoprotein composed of identical subunits (Oshima et al., 1987 [PubMed 3468507]). The GUSB gene is mutated in mucopolysaccharidosis type VII (MPS7; MIM 253220).[supplied by OMIM] 704404,1580863,1300048 3468507,1465145,16335952,16272959,15489334,15342556,15314220,14718574,14702039,14612292,14502216,12905469,12754519,12716937,12690205,12522561,12477932,11513863,11238657,10961372,10562416,9373149,9268591,9152401,9016822,8889548,8644704,8599764,8537326,8505339,8348154,8125298,8111413,8111412,7680524,3987656,3924735,2833520,1916806,1702266,1311180,401508,16189514,12695355 2990 NM_000181,AC073261,CH236961,CH471140,M65002,S72462,AK096764,AK223406,BC014142,BM719712,BP284405,CR593823,M10618,M15182 NP_000172,AAQ96851,EAL23740,EAX07949,EAX07950,EAX07951,AAA52622,AAD14101,BAD97126,AAH14142,AAA52621,AAA52561,P08236,ABM83867,ABM87189 Hs.255230 GDB:120025 FLJ39445|MPS7 protein-coding 1604454 GUSBL1 glucuronidase, beta-like 1 14574404,12477932,7680524 387036 NR_003504,AL133255,BC067351 AAH67351,Q9NQQ0 Hs.675815 GUSBP2|GUSBP4|SMA3-L|SMAC3L|SMAC3L2|b55C20.1|bA239L20.1|bA239L20.5|bGLU-Lp pseudo 1350401 GUSBL2 glucuronidase, beta-like 2 14702039,12477932,10737800,7680524 375513 NR_003660,XR_042151,XR_042150,AL021368,CH878343,AK023611,AK026691,AL162041,AW955360,BC011838,BC017330,BC030061,BC065547,BE146054,BI907421,BM553931,BQ574062,CR599178,AL831827 EAW50460,EAW50461,EAW50462,EAW50463,EAW50464,EAW50465,EAW50466,EAW50467,EAW50468,EAW50469,EAW50470,Q5TIC5 Hs.561539,Hs.675815 C6orf216|DKFZp547L1213|FLJ13549|FLJ23038|SMA3-L|SMAC3L|b55C20.2 pseudo 1606696 GUSBP1 glucuronidase, beta pseudogene 1 14702039,12477932,8565635,7894161 153561 NM_207331,XM_001125975,NR_003656,AC131392,BC064850,X75940 NP_997214,XP_001125975 Hs.654588 pseudo 1351052 GUSM glucuronidase, beta (mouse) modifier 2991 GDB:119291 1602952 GVIN1 GTPase, very large interferon inducible 1 14702039,12874213 387751 XM_495863,XM_940224,NR_003945,AC091564,AL833700,AK023435,BX538318,BX538342,AL834507 XP_495863,XP_945317,BAB14573,CAD98105,Q7Z2Y8 Hs.494757,Hs.706197 FLJ13373|VLIG-1|VLIG1 pseudo 1348748 GYG1 glycogenin 1 1302293,1580863 12051921,17055998,2493642,8613547,10924520,17311895,16189514,15870102,15860684,15489334,12477932,11916970,10721716,10395894,9857012,9346895,8661012,8602861,8325847 1302293 2992 NM_004130,AC021059,AF065481,CH471052,AF087942,BC000033,BC031096,CR536547,CR592226,CR593401,CR594956,CR601242,CR602596,CR604931,CR619386,CR622007,CR623853,CR626037,U31525,U44131,X79537 NP_004121,AAD31084,EAW78894,EAW78895,EAW78896,EAW78897,EAW78898,EAW78899,EAW78900,EAW78901,AAD52093,AAH00033,AAH31096,CAG38784,AAB09752,AAB00114,CAA56073,P46976,Q6FHZ1,Q8N5Y3 Hs.477892 GDB:1326953 GYG protein-coding 1344312 GYG2 glycogenin 2 1580863 12051921,9346895,8613547,9691087,15489334,14702039,12477932,11840567,10721716,9857012,1281472,16189514 8908 NM_003918,NM_001079855,AC005295,AC138085,AF179624,CH471074,AK098046,AK292496,BC023152,CB410312,DQ424901,U94357,U94358,U94360,U94361,U94362,U94363,U94364 NP_003909,NP_001073324,AAF61855,EAW98705,EAW98706,EAW98707,EAW98708,EAW98709,EAW98710,EAW98711,EAW98712,BAF85185,AAH23152,ABD83666,AAB84373,AAB84374,AAB84375,AAB84376,AAB84377,AAB84378,AAB84379,O15488,Q1ZYL7,ABM82032,ABM85213 Hs.567381,Hs.701629 GDB:9957853 GN-2|GN2 protein-coding 1346797 GYG2P glycogenin 2 pseudogene 12815422,10542153 352887 NG_002811,AC002992 GDB:9954906 pseudo 1605885 GYLTL1B glycosyltransferase-like 1B 15958417,16341674,15752776,15661757,15498874,15489334,14702039,12477932 120071 AC068385,CH471064,AF258588,AK055829,AK092526,AK096021,BC037291,NM_152312,BM840813,CR597410,CR619128 NP_689525,EAW68020,EAW68021,AAG23791,BAC03909,BAC04675,AAH37291,Q8N3Y3,ABM82471,ABM85277,ABM87867 Hs.86543 FLJ35207|LARGE2|PP5656 protein-coding 1342753 GYPA glycophorin A (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. 1580863 14681217,3456608,8245024,17456399,17452518,17372674,16424825,16205834,16003235,15819453,15783300,15761857,15754970,15489334,14604989,14550622,12949139,12813056,12492375,12477932,12189808,12165956,12084164,11936216,11861881,10729812,10644812,9490702,9269716,9082985,8953647,8535438,8444872,8286855,7798177,7762218,7718894,7622054,7040988,3809885,3477806,3345758,3198123,3196288,2792104,2753361,2734312,2386609,2216775,2016325,2015404,1932122,1737789,1611092,1560003,1059087,16179731 2993 AY297548,AY297549,AY297550,AY950613,AY950615,CH471056,M24128,M60707,M60712,M60714,M60716,M81079,M81826,X15823,AK290561,AY950614,BC005319,BC013328,BX649043,CR619929,L07251,L07253,L31860,M12857,M36281,S77077,S77082,U00177,U00178,U00179,X08054,X51798,X57023,AJ311327,AJ311328,AJ311329,AJ311330,AJ311331,AJ311332,AY297541,AY297542,AY297543,AY297544,AY297545,AY297546,NG_007470,AC107223,AF090739,AF325923,AJ309704,AJ309705,AJ309706,AJ309707,AJ309828,AJ309829,AJ309830,AJ309831,AJ309832,NM_002099,AJ309834,AJ309835,AJ309836,AJ309837,AJ309838,AJ309839,AJ309840,AJ309841,AJ309842,AJ309843,AJ309844,AJ309845,AJ311318,AJ311319,AJ311320,AJ311321,AJ311322,AJ311323,AJ311324,AJ311325,AJ311326,AJ309833,AY297547 AAR05996,AAR05997,AAR05998,AAX53134,AAX53136,EAX05062,AAA52768,AAC34718,AAC34311,AAC36494,AAC64486,AAC36159,AAC27543,CAA33821,BAF83250,AAX53135,AAH05319,AAH13328,AAC46257,AAC46258,AAA88051,AAA88044,AAA52624,AAB34407,AAB34408,AAC50057,AAC50058,AAA18258,CAA30843,CAA36095,CAA40340,P02724,Q03867,Q03870,Q13030,Q14419,AAR05995,Q14420,CAC85275,CAC85276,CAC85277,CAC85278,CAC85279,CAC85280,AAR05989,AAR05990,AAR05991,AAR05992,AAR05993,AAR05994,CAC85274,NP_002090,AAC36314,AAG59990,CAC83868,CAC83869,CAC83870,CAC83871,CAC82326,CAC82327,CAC82328,CAC82329,CAC82330,CAC82331,CAC82332,CAC83934,CAC83935,CAC83936,CAC83937,CAC83938,CAC83939,CAC83940,CAC83941,CAC83942,CAC83943,CAC83944,CAC85281,CAC85282,CAC85268,CAC85269,CAC85270,CAC85271,CAC85272,CAC85273,Q14423,Q14424,Q14421,Q14438,Q14440,Q14446,Q16308,Q16336,Q58HE5,Q58HE6,Q58HE7,Q6WBG7,Q7KZ29,Q8WTS2,Q8WWP1,Q8WWP2,Q8WWP3,Q8WWP4,Q9BZD9,Q9UE44,Q9UM93,ABM83972 Hs.434973 GDB:118890 CD235a|GPA|GPErik|GPSAT|GpMiIII|HGpMiIII|HGpMiV|HGpMiX|HGpMiXI|HGpSta(C)|MN|MNS glycophorin a (includes mn blood group) protein-coding 1352730 GYPB glycophorin B (MNS blood group) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. 1580863 2015404,1971625,1611092,8144668,7622054,2295603,2734312,18284304,18067501,17561857,17372674,15489334,14641872,14638759,12949139,12869123,12477932,11861881,11239234,9269716,8563755,8535438,8444872,8193374,7806496,7798177,3595615,3571235,3477806,3196288,2016325 2994 NG_007483,AC093890,AF096710,AJ309709,AJ309710,AJ309711,AJ309712,AY297551,AY297552,AY297553,AY297554,AY297555,NM_002100,AY950610,AY950611,BC069310,BC121077,BC121078,J02982,U05255,X08055,AY297556,AY297557,AY297558,AY297559,CH471056,L31861,L31862,M24137,M33505,M60708,U05254,AY509882,AY509883,AY950609 NP_002091,AAD03045,CAC83873,CAC83874,CAC83875,CAC83876,AAR05999,AAR06000,AAR06001,AAR06002,AAR06003,AAX53130,AAX53131,AAX53132,AAH69310,AAI21078,AAI21079,AAA52573,AAA19251,CAB42645,P06028,Q12831,Q12832,Q14461,Q53X25,Q58HE8,Q58HE9,Q58HF0,Q58HF1,Q6R6M5,Q6R6M6,Q6WBF6,Q7LDD6,Q8WTQ3,AAR06004,AAR06005,AAR06006,AAR06007,EAX05058,AAC41695,AAC41696,AAA58626,AAA53152,AAC63048,AAC50503,AAR97607,AAR97608,Q8WWP0,Q99066,Q9UCH7 Hs.654368 GDB:118891 CD235b|GPB|GPB.NY|GYPA|GYPHe.NY|HGpMiVI|MNS|SS glycophorin b (includes ss blood group) protein-coding 1321115 GYPC glycophorin C (Gerbich blood group) Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. 1580863 16669616,2416746,8219208,15815621,15489334,14695625,12576308,12477932,12469115,12058555,11423550,9305870,9153243,7683929,7106126,6712635,4074499,3793105,3606576,3595602,3571235,3544149,2917976,2818576,2776757,2584223,2349119,1991173,1719701,1413665 2995 NM_002101,NM_016815,NG_007479,AC013474,AY838876,CH471103,M29662,X13890,X14242,BC016653,BC104246,BC104247,BC106051,CR600006,CR600264,CR614686,CR622291,CR625319,M11802,M28335,M36284,X12496,X51973 NP_002092,NP_058131,AAY14660,AAV80423,EAW95275,EAW95276,AAA52626,CAA32093,CAA32458,AAI04247,AAI04248,AAI06052,AAA60023,AAA52574,AAA52625,CAA31016,CAA36235,P04921 Hs.59138 GDB:120027 CD236|CD236R|GE|GPC|GYPD|MGC117309|MGC126191|MGC126192 protein-coding 1353887 GYPE glycophorin E The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 1580863 15489334,12949139,12477932,10862083,7798177,7521873,2390989,2249783,1591491,1421409,7622054,2295603 2996 N38976,NM_198682,NM_002102,AC093890,AC109812,AF239849,AF239850,AY297560,AY297561,AY297562,AY297563,AY297564,AY297565,AY297566,AY297567,AY297568,AY297569,CH471056,L31858,L31863,M29604,M29605,M29606,M29607,M29608,M29609,M57232,M57233,M57234,M87884,X53004,X53005,X53006,X53008,X53009,X53010,AF085899,BC017864,BC064396,BG528203,BX091225,CR602358,CR617175,M29610 P15421,Q14447,Q6WBE2,Q6WBE7,Q9NRB2,ABW03465,NP_941391,NP_002093,AAF97047,AAR06008,AAR06009,AAR06010,AAR06011,AAR06012,AAR06013,AAR06014,AAR06015,AAR06016,AAR06017,EAX05065,EAX05066,EAX05067,AAC41697,AAA52766,AAA35923,AAA63179,AAA58616,CAA37189,CAA37191,AAH17864,AAA52575 Hs.654368 GDB:125418 GPE|MNS|MiIX protein-coding 1320086 GYS1 glycogen synthase 1 (muscle) Glycogen is a high molecular mass polysaccharide that serves as a repository of glucose for use in times of metabolic need. Glycogen synthase (EC 2.4.1.11) catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages (Pederson et al., 2004 [PubMed 15282316]).[supplied by OMIM] 1580863 16282323,17055998,17353931,17928598,17356695,17137217,16189514,15955076,15855312,15489334,15282316,15194499,12870167,12732844,12477932,12411100,11427888,11251056,11147787,11092303,10924520,9628874,9373149,9346895,9010351,8449521,8125298,8062946,7657035,7631777,6772446,2493642,2117608 2997 NM_002103,AC008687,AC026803,AC098792,CH471177,Z33622,AK223579,AK291672,BC002617,BC003182,BC007688,CR617414,CR618373,J04501,U32573 NP_002094,EAW52424,EAW52425,CAA83916,BAD97299,BAF84361,AAH02617,AAH03182,AAH07688,AAA88046,AAB60385,P13807,Q53ER0,Q9BTT9 Hs.386225 GDB:134184 GSY|GYS 2289232 BW89_H protein-coding 733991 GYS2 glycogen synthase 2 (liver) 1582633,704404,1600764,1580863,1300048 1731614,9691087,16344560,15489334,12732844,12477932,11752456,8203908,8188280,2169698,1898724 1582633,1600764 2998 DB185936,S70004,NM_021957,AC006559,AC010197,AC022072,AJ003087,AJ003088,AJ003089,AJ003090,AJ003091,AJ003092,AJ003093,AJ003094,AJ003095,AJ003096,AJ003097,AJ003098,AJ003099,AJ003100,AJ003101,AJ003102,CH471094,AV653197,BC126310,BC126312,D29685 BAA06154,AAB30886,P54840,NP_068776,CAA05859,EAW96446,EAW96447,AAI26311,AAI26313 Hs.82614 GDB:219677 glycogen synthase 2 protein-coding 1318777 GZF1 GDNF-inducible zinc finger protein 1 1580863 17674968,16049025,14702039,14522971,12477932,11780052,8889548 64412 NM_022482,AL096677,CH471133,AA062926,AB100265,AK025447,AK056159,AK056477,AK289814,BC016049,BC125188,BE348947,BM975844 NP_071927,CAC03438,CAI20155,EAX10159,EAX10160,EAX10161,BAC98464,BAB15134,BAB71107,BAF82503,Q5JXG1,Q9H116 Hs.633844 GDB:11508205 ZBTB23|ZNF336 zinc finger protein 336 protein-coding 1348122 GZMA granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. 1580863 12819770,12524539,11331782,11909973,17308307,17138956,17116752,16440001,15998831,15489334,15238416,12819769,12721789,12555094,12477932,11555662,9531325,9256474,8288245,7751653,3533635,3263427,3262682,3257574,3237717,3047119,1860869,7912927,16189514,15911377 3001 NM_006144,AC091977,CH471123,U40006,BC015739,CR456968,M18737 NP_006135,EAW54900,AAD00009,AAH15739,CAG33249,AAA52647,P12544,ABM83997,ABM87325 Hs.90708 GDB:120601 CTLA3|HFSP protein-coding 1353495 GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein encoded by this gene is crucial for the rapid induction of target cell apoptosis by CTL in cell-mediated immune response. 1580863 11114298,12524539,11911826,11331782,11909973,18311812,18275349,18024321,17976318,17869012,17825804,17785818,17620340,17568588,17493234,17485116,17437484,17283187,17258890,17224449,17202328,17198275,17116752,17077322,17055354,17015688,16952444,16908262,16794249,16611405,16547254,16547231,16524880,16415351,16336214,16166746,16107729,15998831,15880044,15843372,15818305,15788411,15699075,15673968,15641052,15569669,15528317,15494398,15489334,15340161,15302935,1067155,16189514,15911377,15650747,1985927,15238416,15069086,15014070,14996347,14967307,14752093,14739229,14697980,14696402,14635036,14512315,14499262,12919092,12913938,12721789,12648453,12648450,12645627,12483306,12477932,12388539,12384430,12218164,12200377,12135665,12009596,11802788,11665980,11406587,11325591,11266473,11209755,11160179,11085743,11081635,11050075,10228010,9852092,9727491,9694885,9651578,9642276,9586635,9464839,9337844,9233763,8910377,8900201,8770355,8631895,8156655,3263427,3262682,3261871,3258865,2953813,2788607,2402757,2365998,2332171,2323780,2300587,2193684,2049336 3002 NM_004131,AL136018,CH471078,J03072,M28879,M38193,AY232654,AY232655,AY232656,AY372494,BC030195,BX283601,J03189,J04071,M17016 NP_004122,EAW66002,EAW66003,AAB59528,AAA75490,AAA67124,AAP70244,AAP70245,AAP70246,AAR23323,AAH30195,AAA36603,AAA52118,AAA36627,P10144,Q67BC3,Q6XGZ2,Q6XGZ3,Q6XGZ4,ABW03325 Hs.1051 GDB:120744 CCPI|CGL-1|CGL1|CSP-B|CSPB|CTLA1|CTSGL1|HLP|SECT protein-coding 1348061 GZMH granzyme H (cathepsin G-like 2, protein h-CCPX) 1580863 2193684,2402757,17766182,17765974,17409270,17363894,15489334,15069086,12515723,12477932,10521426,9920846,2300587,2049336,2007574,209336 2999 AL136018,CH471078,J02907,M57888,M59718,M72150,AY232657,AY232658,BC027974,M36118,NM_033423 NP_219491,EAW66004,EAW66005,AAA76859,AAA03514,AAA74885,AAP70247,AAP70248,AAH27974,AAA03248,P20718,Q6XGZ0,Q6XGZ1,ABM82994,ABM86187 Hs.348264 GDB:119823 CCP-X|CGL-2|CSP-C|CTLA1|CTSGL2 protein-coding 68588 GZMK granzyme K (granzyme 3; tryptase II) This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. 1580863 17438453,17308307,17008916,15489334,12477932,12387726,12384499,8929545,8656064,8039831,7758581,3262682,1460416 3003 NM_002104,AC034238,CH471123,BC035802,U26174,U35237 NP_002095,EAW54899,AAH35802,AAA74578,AAA79063,P49863,ABM85019,ABW03654 Hs.277937 GDB:605612 TRYP2 granzyme k protein-coding 1344003 GZMM granzyme M (lymphocyte met-ase 1) Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and Met-ase, also known as granzyme M. 1580863 16818775,15494398,15489334,15028722,12506019,12477932,8929545,8245461,8119738,7713495 3004 NM_005317,AC011556,CH471242,L36922,L36936,BC025701,L23134 NP_005308,EAW61189,AAA57262,AAA57257,AAH25701,AAA59582,P51124 Hs.465511 GDB:387366 LMET1|MET1 protein-coding 1606709 Gcom1 GRINL1A combined protein This gene (Gcom1) is part of a complex transcript unit that includes the gene for glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A (GRINL1A). Transcription of this gene occurs at an upstream promoter, with two different groups of alternatively spliced variants: Gup for GRINL1A upstream transcripts and Gcom for GRINL1A combined transcripts. The GRINL1A gene uses a downstream promoter for transcription and also has multiple alternatively spliced variants. 15233991,15146197,14702039,12477932 145781 AY334560,AY334561,AY334562,AY341345,AY350748,AY353056,AY353057,AY353058,AY353060,BC101645,BC112148,BX095570,CN284687,CR610275,CR617486,NM_001018091,NM_001018100,NM_152451,AC025271,AC090651,CH471082,AK055535,AL050091,AL833028,AL833142,AY207007,AY207459,AY208913,AY237639,AY331564,AY333779,NM_001018090 AAQ76826,AAQ76827,AAQ76828,AAQ76829,AAQ76831,AAQ82541,AAQ76832,AAQ76833,AAQ76834,AAQ76836,AAI01646,AAI12149,Q6EES4,Q6K051,NP_001018100,NP_001018101,NP_001018110,NP_689664,EAW77522,EAW77523,BAB70944,CAB43263,AAO39707,AAP41548,AAP41549,AAP75897,AAQ76825 Hs.437256 FLJ30973|GRINL1A|Gcom2|Gup1|Gup2|MGC126694|MGC138353 protein-coding 1604187 H19 H19, imprinted maternally expressed transcript 18262338,18006818,17012269,16708166,16608903,16603642,15885138,15645136,15314640,15158633,14702039,12937131,12682647,12605037,12569573,12477932,12439823,12419837,11971967,11889182,11813134,11733532,10810089,9716667,2595451,1953776,1688465 283120 CR613458,CR614241,CR615643,CR616415,CR618478,CR613250,CR619598,CR620363,CR621921,CR622025,CR623044,CR624646,CR624919,CR625840,CR626002,CR626400,NR_002196,AC051649,AF087017,AF091107,AF125183,M32053,AK056774,AK092486,AK123560,AL546946,AL548405,BC006831,BC007513,BC009853,BC010185,BC013067,BC015952,BC023213,BC040073,BC040852,BC053636,BC053637,BC063564,BC063626,BC069247,BC098439,BC106078,BC110657,BC115700,CR590990,CR591157,CR594207,CR594418,CR594717,CR596050,CR596119,CR597604,CR598052,CR598390,CR598893,CR599037,CR600015,CR600700,CR600817,CR600913,CR600980,CR602619,CR604451,CR605337,CR605396,CR605723,CR605971,CR606076,CR606538,CR606571,CR607033,CR607245,CR607292,CR608274,CR609090,CR610115,CR610768,CR610911 Hs.533566 GDB:10013646 ASM|ASM1|BWS|D11S813E|MGC4485|PRO2605 miscrna 69024 H19 H19 fetal liver mRNA 704404 8043 736127 H1F0 H1 histone family, member 0 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H1 family. 1580863 9582379,8325638,7511470,4595808,3084796,16189514,17081983,15489334,15461802,14702039,12477932,12406094,12149419,12080050,10591208,10529182,10471283,10228156,9770363 3005 NM_005318,CH471095,X03473,Z97630,AA206831,AK091372,BC000145,BC029046,BI462123,BX490432,CR456502,CR542220,CR591666,CR591712,CR594003,CR596843,CR597945,CR598601,CR598888,CR601737,CR604452,CR604812,CR606708,CR606842,CR606855,CR609515,CR610156,CR613392,CR615993,CR617321,CR619372,CR620114,CR623269,CR623443,CR623479,CR624468,CR615517 NP_005309,EAW60188,CAA27190,CAB42829,AAH00145,AAH29046,CAG30388,CAG47016,P07305,CAK54531,CAK54830,ABM81903,ABM85077 Hs.694881 GDB:118808 H10|H1FV|MGC5241 protein-coding 1604474 H1FNT H1 histone family, member N, testis-specific 15710904,16533358,12477932 341567 NM_181788,AC024257,AY496854,AB121028,AY302593,BC118635,BC119787 NP_861453,AAS49492,BAD13382,AAP60022,AAI18636,AAI19788,Q147U8,Q75WM6,Q7Z694 Hs.155833 H1T2 protein-coding 1347696 H1FOO H1 histone family, member O, oocyte-specific Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The protein encoded is a member of the histone H1 family. The related mouse gene is expressed only in oocytes. 1580863 15371275,14729479,14729478,12711322,12477932,12408966 132243 NM_153833,AC080007,CH471052,AY158091,BC047943 NP_722575,EAW79242,EAW79243,AAN46899,AAH47943,Q86WT7,Q8IZA3 Hs.97358 MGC50807|osH1 protein-coding 1354284 H1FX H1 histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H1 family. 1580863 17632103,17081983,16006241,15635413,15595731,15489334,15302935,12698000,12477932,9439656,8964515,1879604,17868027 8971 NM_006026,AC137695,CH471052,BC000426,BC010435,D64142 NP_006017,EAW79264,AAH00426,AAH10435,BAA11018,Q92522 Hs.75307 GDB:9957979 H1X|MGC15959|MGC8350 protein-coding 1346656 H2AFB1 H2A histone family, member B1 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. 15257289,11266453,8528212 474382 NM_001017990,NG_005114,BX842559,BC128034,CR542230 NP_001017990,CAI41667,AAI28035,CAG47026,P0C5Y9 Hs.592246 H2A.Bbd protein-coding 1349803 H2AFB2 H2A histone family, member B2 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. 15257289,12477932,11266453,8528212 474381 NM_001017991,NG_005114,BX682237,BC101409,BC101415,BC101417,BC101418,BC134365 NP_001017991,CAI41332,AAI01410,AAI01416,AAI01418,AAI01419,AAI34366 Hs.534498,Hs.632841 H2A.Bbd protein-coding 1344236 H2AFB3 H2A histone family, member B3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. 16287874,15772651,15489334,15257289,12477932,11266453,8528212,14657027,11689053,11080476,9566873 83740 NM_080720,NG_005114,BX276110,CH471172,X86012,AF254576,BC101415,BC101417,BC101418,BC130510,BC130512 NP_542451,CAH71440,EAW72649,CAA59998,AAL01652,AAI01416,AAI01418,AAI01419,AAI30511,AAI30513,P0C5Z0 Hs.632841 H2ABBD|H2AFB|H2AFB2 protein-coding 1343634 H2AFJ H2A histone family, member J Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. 1580863 16344560,14702039,14657027,12477932,11689053,11331621,11080476,9566873 55766 NM_177925,AC010168,CH471094,AK001765,AL133626,BC003602,BU594879,CR625218,DA808847 NP_808760,EAW96326,EAW96327,BAA91894,AAH03602,Q9BTM1,Q9NV63 Hs.524280 GDB:11506117 FLJ10903|MGC921 protein-coding 1322551 H2AFV H2A histone family, member V Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. 16916647,16457589,16344560,16341674,15489334,14702039,14657027,12853948,12477932,11689053,11080476,9566873 94239 AK023973,AK025785,AK129989,AL049324,AL520785,AL520811,BC000098,BC004274,BC014885,BC070169,BF242439,BG679983,BG754026,BG773256,BI257891,BM452844,BM453663,BM850777,BX644511,CB148943,CR602318,CR615278,DA456475,DB460745,NM_138635,NM_201436,NM_201517,NM_201516,NM_012412,AC004854,AL110212,CH236960,CH471128,AB209001,AF081192 AAH00098,AAH04274,AAH14885,AAH70169,Q71UI9,AAC31938,NP_619541,NP_958844,NP_958925,NP_958924,NP_036544,AAS00365,EAW61074,EAW61075,EAW61076,EAW61077,BAD92238,ABM83332,ABM86544 Hs.488189,Hs.624870 FLJ26479|H2AV|MGC10170|MGC10831|MGC1947 protein-coding 1346464 H2AFX H2A histone family, member X Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. 1580863 12556884,11331621,15604234,18406329,18328813,18285460,18206537,18001825,17925396,17874213,17851762,17709392,17668632,17634426,17594478,17548670,17372987,17327276,17276133,17227291,2587254,12419185,12607005,10959836,17203247,17110439,17106266,17064697,16953663,16927366,16909103,16872365,16820894,16788066,16678501,16628006,16494516,16494514,16426422,16382446,16310392,16240122,16153602,16046194,15905198,15816840,15733840,15707990,15655354,15613478,15574327,15489334,15489221,15485898,15389585,15279782,15201865,15059890,14657027,14627815,14519663,12926989,12915485,12792649,12697768,12689589,12660252,12551934,12477932,12372432,12220643,12033261,11927591,11893489,11689053,11673449,11571274,11110662,11080476,10734083,10477747,9566873,9488723,8076949,7929075,7769017,15364958,12447390,16189514,12485996,15723802,15064416 3014 NM_002105,AP003391,CH471065,DQ015918,BC004915,BC011694,BC013416,CR457079,X14850 NP_002096,EAW67451,AAY22178,AAH04915,AAH11694,AAH13416,CAG33360,CAA32968,P16104 Hs.477879 GDB:386431 H2A.X|H2A/X|H2AX protein-coding 731902 H2AFY H2A histone family, member Y Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. 1298632,1580863 9714746,15053874,11331621,18227505,18053270,17570398,16428466,17158748,17081983,16210244,16129414,16107708,15965484,15902274,15897469,15621527,15489334,14702039,14657027,12800201,12718888,12477932,12082075,11689053,11080476,11042152,9653160,9634239,9566873,12419249,12183056 1298632 9555 NM_004893,NM_138609,NM_138610,NM_001040158,AC026691,CH471062,CR607311,CR607865,CR607903,CR618025,CR618845,CR622086,CR622217,CR624310,CR624606,AB209490,AF041483,AF044286,AF054174,AK023409,AK023833,AK092944,AK123153,AY134746,BC013331,BC045570,BC095406,BE262597,CR597742,CR599382,CR600032,CR600350,CR602262 NP_004884,NP_613075,NP_613258,NP_001035248,EAW62218,EAW62219,EAW62220,EAW62221,O75367,Q59FH0,ABZ92484,BAD92727,AAC33433,AAC33434,AAC39908,BAB14565,AAN08620,AAH13331,AAH95406,EAW62222 Hs.599225,Hs.696013 GDB:9957330 H2A.y|H2A/y|H2AF12M|H2AFJ|MACROH2A1.1|mH2A1|macroH2A1.2 protein-coding 1347144 H2AFY2 H2A histone family, member Y2 1580863 15489334,15164054,14702039,14657027,12477932,11689053,11262398,11080476,9566873,15621527,11331621 55506 NM_018649,AC024601,AL731540,CH471083,AF151534,AF336304,AK022475,AK022776,AK131057,BC016172,BF439798,CR592495,CR601217,CR613322,CR613570,CR623698,CX752382 NP_061119,CAI13682,CAI13683,EAW54372,EAW54373,EAW54374,AAF72101,AAK52471,BAB14049,BAB14239,AAH16172,Q9HA11,Q9P0M6,ABZ92485 Hs.499953 GDB:11501951 macroH2A2 protein-coding 731613 H2AFZ H2A histone family, member Z Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. 16627869,16457589,16319397,15878876,15815621,15489334,14759373,14702039,14657027,12660166,12477932,11835281,11689053,11516949,11380948,11157489,11101893,11080476,11059755,10975868,9566873,8605251,8020992,7880446,7821789,3344202,1697587,17671089,17636032,17194760,16916647,16809769 3015 AB051580,AC097460,AF304516,AJ406669,AJ406684,CH471057,L10138,AK056803,AY006317,AY597416,BC018002,BC020936,BC032524,BC039005,BC103743,CD685635,CR457415,CR599577,CR611014,CR616797,D28450,M37583,X52317,NM_002106 NP_002097,BAB18521,AAY41013,AAG25670,CAC10733,CAC10748,EAX06118,AAC61625,AAG15820,AAH18002,AAH20936,AAI03744,CAG33696,BAA05816,AAA35984,CAA36553,P0C0S5,ABM84142,ABM87544 Hs.119192 GDB:230128 H2A.z|H2A/z|H2AZ|MGC117173 protein-coding 1347889 H2AFZP H2A histone family, member Z, pseudogene 10830953 54049 NG_000922,AB001523,AP001753,U61521 GDB:10796345 GT334 pseudo 1603841 H2AFZP2 H2A histone family, member Z, pseudogene 2 346990 NG_005179,AC084251 pseudo 1602818 H2BFM H2B histone family, member M 14702039,15772651 286436 XM_001723437,XM_001714135,XM_936705,AK093522 XP_001723489,XP_001714187,XP_941798,P0C1H6 Hs.376474 protein-coding 1347011 H2BFO H2B histone family, member O 6326092 10339 NG_001226,AL591493,K01887,K01888 GDB:9956387 H2B/o pseudo 1351367 H2BFS H2B histone family, member S 1580863 9566873,16916647,16713563,16627869,16307923,16283522,15489334,15019208,12860195,12757711,12477932,11859126,10830953,8620898,14657027,11689053,11080476 54145 NG_006504,AB041017,AP001051,AP001751,CH471079,BC126339,BC126369 BAD74065,BAA95538,EAX09487,AAI26340,AAI26370,A0AVI3,P57053 Hs.473961 GDB:9992988 pseudo 1606133 H2BFWT H2B histone family, member W, testis-specific Testis-specific histones, like H2BFWT, are synthesized and accumulate at specific stages of mammalian spermatogenesis. Their proposed functions range from facilitation of the replacement of somatic histones by protamines to epigenetic control of gene transcription (Churikov et al., 2004 [PubMed 15475252]).[supplied by OMIM] 16449661,15489334,15475252,15237208,12477932 158983 NM_001002916,AL034485,AY283369,CH471120,AY283370,BC038109,BC118604,BC121816 NP_001002916,AAP37489,EAX02765,EAX02766,AAP37490,AAH38109,AAI18605,AAI21817,Q7Z2G1 Hs.127778 MGC148130|MGC148131 protein-coding 1602137 H2BFXP H2B histone family, member X, pseudogene 11181995 767811 NR_003238,AL034485,CH471120,AY730279 Hs.496530 pseudo 1317993 H3F3A H3 histone, family 3A Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. 14718166,14657027,12909349,12871727,12773393,12560483,12529330,12477932,11856369,11850414,11751582,11689053,11591653,11562345,11278789,11242053,11080476,10911986,10464286,9566873,9441765,9334241,8586426,7821789,7309716,3031613,2859593,15834423,15345777,15311210,17194708,17189264,17052464,16916647,16710414,16497732,16457588,16341674,16267050,16258499,16185088,15851689,15776021,15684425,15681610,15674325,15664198,15616580,15525939,15498874,15489334,15471871,15669143 3020 BC067757,BC081560,BC081561,BC095447,BM760856,CR592641,CR594323,CR594691,CR594694,CR595231,CR600004,CR604105,CR607635,CR611775,CR613651,CR616566,CR616667,CR618614,CR620119,CR621187,CR625697,D28384,M11353,M11354,NM_002107,AL512343,CH471098,X05855,X05856,X05857,AK291102,BC013857,BC029405,BC038989,BC066901 AAH67757,AAH81560,AAH81561,AAH95447,BAA05750,AAA52654,AAA52653,P84243,ABM83541,ABM86781,NP_002098,CAH73371,CAH73372,EAW69770,EAW69771,EAW69772,EAW69773,CAA29288,BAF83791,AAH29405,AAH38989,AAH66901 Hs.533624,Hs.546259,Hs.709407 GDB:125249 H3.3A|H3F3|MGC87782|MGC87783 protein-coding 1626138 H3F3AP1 H3 histone, family 3A, pseudogene 1 654505 NG_006444,AC012377,AC025168 HsT18159 pseudo 1626136 H3F3AP2 H3 histone, family 3A, pseudogene 2 664611 NG_006445,AL049829 H3F3CP pseudo 733608 H3F3B H3 histone, family 3B (H3.3B) Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is poyadenylated, unlike most histone genes. The protein encoded is a member of the histone H3 family. 16381901,16189514,15489336,14702039,14657027,14527345,12909349,12477932,11751582,11689053,11230166,11080476,11076863,10096020,9731536,9566873,9188772,8889548,8586426,7557364,1748304 3021 NM_005324,AC087289,CH471099,Z48950,AF218029,AK054591,AK130772,BC001124,BC006497,BC012813,BC017558,BC020466,BC108701,BM723811,BX537379,BX647280,CR591387,CR591461,CR595062,CR595544,CR595774,CR597711,CR599200,CR602412,CR602581,CR602780,CR603175,CR603793,CR622957,CR624690,CR625366,CR625547,CR603889,CR604778,CR605171,CR606388,CR608885,CR610507,CR611244,CR612972,CR613143,CR614120,CR615382,CR616111,CR617433,CR618076,CR618082,CR619729,CR621009,CR621264,CR622564 NP_005315,EAW89317,EAW89318,EAW89319,CAA88778,AAG17271,AAH01124,AAH06497,AAH12813,AAH17558,AAI08702,CAD97621,P84243,CAL38070,ABZ92486 Hs.180877,Hs.699316 GDB:642141 H3.3B|H3F3A protein-coding 1350519 H4F3 H4 histone, family 3 3023 X60653 GDB:125250 1315252 H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. 1625067,1580863 10349511,17062770,16710414,16091483,16079116,16079115,15827106,15767211,15489334,15280030,14702039,14671302,12858176,12831846,12477932,10497882,7106784,4169027,950237 1625067 9563 NM_004285,AL832271,AY409284,CH471130,Z98044,AJ012590,AK024548,AK026460,AK091191,AL833024,BC007368,BC026099,BC044256,BC069028,BC081559,BC098450,CR749282 NP_004276,EAW71613,CAI95702,CAA10071,AAH81559,CAH18137,O95479 Hs.463511 GDB:9957353 DKFZp686A01246|G6PDH|GDH|MGC87643 protein-coding 731775 HAAO 3-hydroxyanthranilate 3,4-dioxygenase 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. 1580863,1300048 7514594,14704851,17213182,16189514,15815621,15489334,12477932,9291104,8889548 23498 NM_012205,AC098824,CH471053,BC029510,BI602406,CB850657,CR457063,CR624693,DT215851,Z29481 NP_036337,AAY14701,EAX00309,EAX00310,EAX00311,AAH29510,CAG33344,CAA82618,P46952,ABM82094,ABM85276 Hs.368805 GDB:362759 3-HAO|HAO protein-coding 1350340 HABP2 hyaluronan binding protein 2 The protein encoded by this gene is an extracellular serine protease that binds hyaluronic acid and is involved in cell adhesion. The encoded protein is synthesized as a single chain, but then undergoes an autoproteolytic event to form the functional heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This protease is known to cleave urinary plasminogen activator, coagulation factor VII, and the alpha and beta chains of fibrinogen, but not prothrombin, plasminogen, or the gamma chain of fibrinogen. 1304486,1580863 8827452,14718574,18394684,18278202,17540775,17482622,17479202,17145954,17003923,16461761,16332249,16153533,15933067,15654766,15543324,15489334,15486068,15164054,12578864,12477932,12452440,12437095,12386823,12138371,11379758,11217080,9443814,1724753 1304486 3026 NM_004132,AL390197,AY534754,CH471066,AK290832,BC031412,D49742,DC413026,S83182 NP_004123,CAH71108,AAS16352,EAW49505,BAF83521,AAH31412,BAA08576,AAB46909,Q14520,ABM81746,ABM84901 Hs.422542 GDB:4573962 FSAP|HABP|HGFAL|PHBP protein-coding 1315131 HABP4 hyaluronan binding protein 4 1580863 16879614,16455055,16169070,15862299,15489334,15164053,15146197,14702039,14699138,12505151,12477932,10887182,9523163,1310832 22927 NM_014282,AL133477,CH471174,AA593631,AF241831,AK000610,AK025144,AK055161,AK091242,BC018788,BI757571,BQ962055,CN287447,CR596448,CR607840,CR613476,CR613789,U77327 NP_055097,CAI39620,CAI39621,EAW92651,EAW92652,EAW92653,AAF62546,AAH18788,AAC31117,Q5JVS0 Hs.494567 GDB:9957737 IHABP4|Ki-1/57|MGC825|SERBP1L protein-coding 1314539 HACE1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 17694067,15489334,15254018,14574404,12477932,12421765,10718198 57531 NM_020771,AL357315,AL513472,AL590402,CH471051,AB037741,AJ420474,AK131207,AK291760,AK292683,AL834202,BC034982,BC038119,BC041919 NP_065822,CAI16815,CAH71889,CAH71890,CAH74023,CAH74024,EAW48437,EAW48438,EAW48439,BAA92558,BAF84449,BAF85372,CAD38890,AAH34982,Q8IYU2,ABM82661 Hs.434340 protein-coding 1607054 HACL1 2-hydroxyacyl-CoA lyase 1 10468558,16189514,14561759,16344560,15644336,15489334,14702039,12477932,11042152 26061 AC027129,CH471055,AF161397,AJ131753,AK056977,BC001627,BC007440,CR608246,CR609501,DA609383,DB049608,NM_012260 NP_036392,EAW64251,EAW64252,EAW64253,AAF28957,CAB60200,AAH01627,AAH07440,Q7Z773,Q9UJ83,ABM86484,ABW03818 Hs.63290 2-HPCL|HPCL|HPCL2|PHYH2 protein-coding 1351201 HADH hydroxyacyl-Coenzyme A dehydrogenase This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene. 8687463,11256614,17065362,16344560,16176262,15489334,14702039,14693719,12477932,11489939,10931422,10840044,10347277,10231530,9716664,8889548,8825408,1835339,975867 3033 NM_005327,AC114733,AC118062,AF001904,AF026853,AF095703,CH471057,AF001902,AF001903,AK096018,BC000306,BM682975,CR590438,CR591982,CR592199,CR593079,CR616506,CR618120,DA825380,X96752 NP_005318,AAY41050,AAB58153,AAD13581,EAX06218,EAX06219,EAX06220,AAB54008,AAB54009,AAH00306,CAA65528,Q0JTM9,Q16836,Q4W5B4,ABM82345,ABM85519 Hs.438289 GDB:120033 HAD|HADH1|HADHSC|HHF4|M/SCHAD|MGC8392|SCHAD protein-coding 733877 HADHA hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. 1599882,1599884,1600572,1580863 8135828,18045290,18031367,17313315,17199921,17143551,17081983,15952740,15489334,15347768,15146197,14630990,12971430,12754706,12477932,12413376,12118083,11978893,10075708,9739053,9605857,9266371,9003853,8921383,8865274,8770876,8163672,7958339,7918661,7846063,7811722,7738175,1550553 1599882,1599884,1600572 3030 CR626125,D16480,U04627,NM_000182,NG_007121,NG_007294,AB020811,AC010896,AC011742,CH471053,AI972144,BC009235,CN264228,CR622711 BAA03941,AAA56664,P40939,Q53T69,Q53TA2,Q9UQC5,ABM83702,ABM87022,NP_000173,BAA76735,AAY14643,AAX93141,EAX00703,EAX00704,AAH09235 Hs.516032 GDB:434026 ECHA|GBP|HADH|LCHAD|MGC1728|MTPA|TP-ALPHA hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a hiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit protein-coding 1353536 HADHAP hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase pseudogene (gastrin binding protein pseudogene) 7918661 3031 NG_000863,AC012504,U04628 GDB:433330 pseudo 736480 HADHB hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. Mutations in this gene result in trifunctional protein deficiency. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. 1600786,1600572,1600779,1600782,1600788,1580863 12933794,12754706,12721663,12665801,12477932,9739053,9605857,9259266,8921383,8651282,8163672,7958339,16189514,11430884,1550553,8135828,17199921,16344560,15815621,15489334,15242332,14702039,14630990 1600786,1600572,1600779,1600782,1600788 3032 NM_000183,NG_007294,NG_007121,AB020811,AC010896,CH471053,D86850,CR596672,CR597780,CR598353,CR599982,CR608278,CR609244,CR626668,D16481,DA835045,DB477128,AF113209,AK095278,AK130072,BC014572,BC017564,BC030824,BC066963,CR596000 NP_000174,AAY14644,EAX00700,EAX00701,EAX00702,BAA22061,BAA03942,P55084,ABM83648,ABM86897,AAG39280,AAH14572,AAH17564,AAH30824,AAH66963 Hs.534639 GDB:344953 ECHB|MGC87480|MSTP029|TP-BETA protein-coding 736814 HAGH hydroxyacylglutathione hydrolase The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. 1580863,1300048 8550579,16831876,16803681,15616553,15489334,15117945,12477932,12204678,12012344,11368412,11157797,10508780,7585456,7424909,7327557,6463589,5485124,3663711,3382669,3025077,2164460,1459997,1192606 3029 NM_005326,NM_001040427,AC012180,AE006639,CH471112,AK290155,AY576804,BC000840,BC002627,BE797513,BG703401,BI758286,BU176541,CR611189,CR612350,CR614453,CR620966,DB502986,DR006636,X90999 NP_005317,NP_001035517,AAK61294,EAW85609,EAW85610,EAW85611,BAF82844,AAH00840,AAH02627,CAA62483,Q16775,ABM82146,ABM82147,ABM85329,ABW03710 Hs.157394,Hs.513265 GDB:119292 GLO2|GLX2|GLXII|HAGH1 hydroxyacyl glutathione hydrolase protein-coding 1317582 HAGHL hydroxyacylglutathione hydrolase-like 14702039,12477932,11157797 84264 NM_207112,NM_032304,AE006464,CH471112,AB209331,AK054841,AK098340,BC004353,BC015008,BC033796,BC036747,BG338261,BG469685,BI333301,BI818409,CR592523 NP_996995,NP_115680,AAK61250,EAW85725,EAW85726,EAW85727,EAW85728,EAW85729,EAW85730,EAW85731,EAW85732,EAW85733,BAD92568,BAB70814,AAH04353,AAH15008,AAH33796,Q6PII5 Hs.124015 GDB:11501931 MGC2605 protein-coding 68517 HAL histidine ammonia-lyase Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids 1300048,1580863 2055114,15806399,15741241,15489334,12477932,8530107,7916645 3034 NM_002108,AB042217,AB191160,AB191161,AB191162,AB191163,AB191164,AB191165,AB191166,AB191167,AC007298,AC126174,CH471054,D43619,BC096096,BC096097,BC096098,BC096099,D16626 Q2PH60,Q2PH61,Q4VB93,Q4VB95,NP_002099,BAB61863,BAE72109,BAE72110,BAE72111,BAE72112,BAE72113,BAE72114,BAE72115,BAE72116,EAW97554,EAW97555,EAW97556,AAH96096,AAH96097,AAH96098,AAH96099,BAA04047,P42357,Q2PH55,Q2PH56,Q2PH57,Q2PH58,Q2PH59 Hs.190783 GDB:120746 HIS|HSTD histidine ammonia lyase protein-coding 736414 HAMP hepcidin antimicrobial peptide The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. 727307,704404,1599358,1580863 11113131,11034317,18333366,18073346,17962361,17951471,17905609,17905608,17847004,17768112,17766053,17721544,17613866,17559363,17488680,17331161,17229647,17229646,17112858,16962038,16952548,16946298,16937259,16929540,16835372,16769583,16769573,16737972,16460831,16315135,16204153,16103673,15998830,15933050,15831700,15797999,15725899,15685557,15671438,15514116,15489334,15198949,15178582,15124018,15124013,15057824,14702039,14670915,14630809,12975309,12915468,12663437,12637325,12477932,12469120,12433676,12393428,12138110,12010514,11836175,11113132 727307,1599358 57817 NM_021175,AD000684,DQ496109,AF131292,AF147355,AF309489,AJ277280,AK096110,AY358669,BC020612 NP_066998,ABF47098,AAK14912,AAG23966,CAC09419,AAQ89032,AAH20612,P81172,Q1HE14 Hs.8821 GDB:11504417 HEPC|HEPCIDIN|HFE2B|LEAP-1|LEAP1|PLTR protein-coding 737010 HAND1 heart and neural crest derivatives expressed 1 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. 1580863 9931445,16043483,15509787,15489334,14636580,12858532,12477932,11812799,11802795,10924525,10837146,10611232,10189962,9337404,8012384,1182795 9421 NM_004821,AC026688,AF063012,CH471062,Z63841,AF061756,BC021190,CR591821,CR594436,CR623464 NP_004812,AAD19283,EAW61636,AAD19280,AAH21190,O96004,ABZ92217 Hs.152531 GDB:9956659 Hxt|Thing1|eHand protein-coding 731603 HAND2 heart and neural crest derivatives expressed 2 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. 9500550,9878849,16467358,16280598,15351717,14702039,14636580,14506227,12858532,12477932,11994297,11812799,11076755,10924525,10189962 9464 NM_021973,AC093849,AF087941,CH471056,AF087940,AK122739,BC101406,BC101974,BC109383,BF313018 NP_068808,AAD13186,EAX04749,EAX04750,AAD13185,AAI01407,AAI01975,AAI09384,P61296,Q32LY2,Q3T1D5,Q494T1 Hs.388245 GDB:9958848 DHAND2|FLJ16260|Hed|MGC125303|MGC125304|Thing2|dHand dhand protein protein-coding 1353845 HAO1 hydroxyacid oxidase (glycolate oxidase) 1 This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. 1580863 10777549,18215067,17669354,15489334,12477932,11780052,10978532,9891009,14623081 54363 AL121739,BC113665,BC113667,AL021879,NM_017545,CH471133,AB024079,AF231916,AF244134,AK289423 CAB57329,AAI13666,AAI13668,Q9UJM8,NP_060015,CAC34364,EAX10379,EAX10380,EAX10381,BAA82872,AAF40199,AAF63219,BAF82112 Hs.193640 GDB:9958570 GOX|GOX1|HAOX1|MGC142225|MGC142227 protein-coding 1346012 HAO2 hydroxyacid oxidase 2 (long chain) This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed predominantly in liver and kidney and has the highest activity toward the substrate 2-hydroxypalmitate. Two alternatively spliced variants encoding the same isoform have been described. 1580863 10777549,16710414,15489334,12477932 51179 NM_001005783,NM_016527,AL139346,AL359553,CH471122,AF203975,AF231917,AY513277,BC020863,BG428999,CB121424 NP_001005783,NP_057611,CAC19798,CAI23077,CAI23078,EAW56698,EAW56699,AAF14000,AAF40200,AAT08030,AAH20863,Q2TU86,Q5QP00,Q9NYQ3,ABM86089,ABW03772 Hs.659767 GDB:10796796 GIG16|HAOX2 protein-coding 736448 HAO3 hydroxyacid oxidase (glycolate oxidase) 3 1300048 51273 68454 HAP1 huntingtin-associated protein 1 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. 68261,1302538,1580863,1300048 9361024,18192679,17569884,16713569,16344560,16169070,15737634,15383276,14702039,12881483,12021262,10974549,10087300,9798945,9742138,9668110,9599014,9454836,7477378,15654337 68261,1302538 9001 NM_001079870,NM_001079871,NM_177977,NM_003949,AC109319,AJ012824,AJ224877,CH471152,AB209105,AF040723,AK022007,CB128405,DA203084,DA231862,U38371 NP_001073339,NP_001073340,NP_817084,NP_003940,CAC09418,CAB82785,EAW60757,EAW60758,EAW60759,EAW60760,EAW60761,BAD92342,AAC39861,BAB13952,AAC50297,P54257,Q59GK4,AAI56729 Hs.158300 GDB:6780936 HAP2|HIP5|HLP|hHLP1 protein-coding 1346855 HAPLN1 hyaluronan and proteoglycan link protein 1 1580863 2286376,15590670,15489334,15456769,14724283,12888576,12663660,12477932,12429048,11493848,11038300,11027579,10198161,9712087,7945259,7694569,2738916,2336413,2320422,2030970,1725805 1404 M63579,U43328,X17405,X78076,NM_001884,AC020899,CH471084,BC057808,CR597704,CR605965 AAA85216,CAA35462,P10915,NP_001875,EAW95912,EAW95913,EAW95914,AAH57808 Hs.591758 CRTL1 protein-coding 1351001 HAPLN2 hyaluronan and proteoglycan link protein 2 1580863 15489334,14702039,12663660,12477932,11873941,11817897,11027579 60484 Q5T3J0,Q5T3J1,Q9GZV7 NM_021817,AB049061,AL365181,CH471121,AB049054,AK090712,BC029864 NP_068589,BAB17669,CAI13054,CAI13055,EAW52933,EAW52934,BAB17662,AAH29864,Q5T3J0,Q5T3J1,Q9GZV7 Hs.410719 BRAL1 protein-coding 1317673 HAPLN3 hyaluronan and proteoglycan link protein 3 This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. 1580863 15489334,12975309,12663660,12477932 145864 NM_178232,AC067805,AC103982,CH471101,AK292055,AK292103,AY037161,AY262759,AY358500,BC053689,BC062320,CR613805 NP_839946,EAX02022,EAX02023,EAX02024,BAF84744,BAF84792,AAK67639,AAP22051,AAQ88864,AAH62320,Q96S86 Hs.447530 EXLD1|HsT19883 protein-coding 1348635 HAPLN4 hyaluronan and proteoglycan link protein 4 1580863 14550776,12663660,11572484 404037 NM_023002,AC138430,CH471106,AB107883,AL389941,AY262756,BC142644,BC142698 NP_075378,EAW84804,BAC79077,AAP22048,AAI42645,AAI42699,Q0IJ64,Q86UW8 Hs.367829 BRAL2|KIAA1926 protein-coding 1346103 HAPP huntingtin-associated protein 1, pseudogene 68261 68261 8304 P54255 U38372 GDB:9954388 1601892 HAR1A highly accelerated region 1A (non-protein-coding RNA) 16915236,12477932 768096 NR_003244,AL096828,BC035016,BC047717,DQ860409 Hs.549606 HAR1F miscrna 1601891 HAR1B highly accelerated region 1B (non-protein-coding RNA) 16915236 768097 NR_003245,AL096828,DQ860410,DQ860411 Hs.635159 HAR1R miscrna 1602498 HARBI1 harbinger transposase derived 1 18339812,15489334,15169610,9734811,14702039,12477932,9373149,9110174,8619474,8125298 9776 NM_014741,AC115088,AC127035,CH471064,AB014552,AF052175,AK000705,AK023867,AK223603,AK289641,AK293109,BC001331,BC002378,BC006191 NP_055556,EAW67985,EAW67986,EAW67987,EAW67988,EAW67989,EAW67990,EAW67991,BAA31627,BAB14707,BAD97323,BAF82330,BAF85798,AAH01331,AAH02378,AAH06191,O75143,Q53EN6 Hs.410092 FLJ20698|KIAA0652|kiaa0652 protein-coding 1350214 HARS histidyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. 1580863 1549469,7755634,17785330,17665459,15489334,14702039,12802020,12477932,12471150,12056811,11829477,9373149,8929351,8406012,8125298,8049265,3554142,3464104,2996334,2023220,16189514 3035 NM_002109,AC116353,CH471062,M96646,U18936,AK000498,AK055917,AK124831,AK225776,AY995220,BC011807,BC080514,CR595110,CR596101,CR607453,CR608398,CR609422,X05345,Z11518 NP_002100,EAW62021,EAW62022,EAW62023,AAA58668,AAA73973,AAX99363,AAH11807,AAH80514,CAA28956,CAA77607,P12081,Q52NV4 Hs.528050 GDB:120034 FLJ20491|HRS protein-coding 1352732 HARS2 histidyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes share a bidirectional promoter. 1580863 7755634,17081983,15489334,12477932,10430027,9445076,8406012,1549469 23438 NM_012208,AC116353,CH471062,U18936,BC007680,BC014982,CR613950,CR617548,U18937 NP_036340,EAW62019,EAW62020,AAA73972,AAH07680,AAH14982,AAA73974,P49590,ABM83567,ABW03517 Hs.432560 GDB:637595 HARSL|HARSR|HO3 histidyl-trna synthetase-like protein-coding 1343910 HAS1 hyaluronan synthase 1 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. 1580863 17353931,8798544,9169154,18199543,17922656,17904513,17611197,16786194,16723203,16564133,16258173,15870928,15794859,15731173,14636845,12720129,12477932,12239172,11790779,10093717,8651928,3099751 3036 NM_001523,AC018755,CH471135,AY916554,AY916555,AY916556,BC035837,CR602106,D84424,U59269 ABM82145,ABM85328,Q9NS49,NP_001514,AAF87845,EAW72038,EAW72039,AAY52130,AAY52131,AAY52132,AAH35837,BAA12351,AAC50706,Q4VHE4,Q4VHE5,Q4VHE6,Q8IYH3,Q92839 Hs.57697 GDB:1220109 HAS protein-coding 732743 HAS2 hyaluronan synthase 2 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS2 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to glycosaminoglycan synthetase (DG42) from Xenopus laevis, and human and murine hyaluronan synthase 1. 1580863 9169154,17872502,17611197,17315194,17307735,16807238,16786194,16687630,16603733,16564133,15922739,15843373,15722343,15677552,15642402,15489334,14988410,14752026,14636845,12477932,11790779,10093717,8798477 3037 NM_005328,AC022909,AC104233,CH471060,CS279104,BC069353,BC109071,BC109072,U54804 NP_005319,EAW92010,CAJ87378,AAH69353,AAI09072,AAI09073,AAC50692,Q92819 Hs.571528 GDB:4073040 MGC126241|MGC126242 protein-coding 1350380 HAS3 hyaluronan synthase 3 The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Two transcript variants encoding different isoforms have been found for this gene. 1580863 9169154,16786194,16564133,14636845,14566823,12477932,12417987,11851874,11790779,11431361,11378333,11278609,10794710,9083017 3038 NM_138612,NM_005329,AC009027,CH471092,U86409,AF232772,AF234839,AK291400,AW294351,BC021853 NP_619515,NP_005320,EAW83247,EAW83248,AAC51209,AAF36984,AAK73797,BAF84089,AAH21853,O00219,Q8WTZ0,Q96RV2 Hs.592069 GDB:4073041 protein-coding 1313912 HAT1 histone acetyltransferase 1 Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. This gene encodes a histone acetylase that contains A, B, and D motifs, present in many N-acetyltransferases, including those that acetylate substrates other than histones. Alternatively spliced transcript variants that encode different isoforms have been identified for this gene. 1580863 9427644,17081983,17052979,15815621,15489334,12477932,12408818,11585814,11492997,10911985,12775419 8520 NM_003642,NM_001033085,AC015976,AC114745,CH471058,AF030424,AK127840,BC018682,BC045673,BC063003,CR592532,CR600659,CR608151 NP_003633,NP_001028257,AAY14731,AAX93247,EAX11194,EAX11195,AAC02425,AAH18682,AAH45673,AAH63003,O14929,Q6P594,Q8WWB9 Hs.632532 GDB:9955540 KAT1 protein-coding 1352552 HAVCR1 hepatitis A virus cellular receptor 1 1580863 18466531,18294362,18273441,18165774,18082433,18052965,17570927,17371991,17229699,17205356,17117951,16940744,16713569,16481347,16344560,15867855,15489334,15086915,15007635,14637143,14630400,14534576,12893810,12618867,12477932,12138159,11725301,9658108,9557657,16189514 26762 NM_012206,NM_001099414,AC026777,CH471062,AF043724,AW604297,BC013325,CR457114,DA378449,DA384612 NP_036338,NP_001092884,EAW61615,EAW61616,AAC39862,AAH13325,CAG33395,Q96D42,ABM83696,ABM87018 Hs.129711 HAVCR|HAVCR-1|KIM-1|KIM1|TIM-1|TIM1|TIMD1 protein-coding 1313140 HAVCR2 hepatitis A virus cellular receptor 2 CD4 (MIM 186940)-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells and their associated cytokines are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. The 2 types of cells also cross-regulate the functions of the other. TIM3 is a Th1-specific cell surface protein that regulates macrophage activation and enhances the severity of experimental autoimmune encephalomyelitis in mice.[supplied by OMIM] 1580863 11823861,18294362,18052965,18006747,17665973,17430399,17096021,17069754,16940744,16754722,16685421,16456792,16286920,16159638,15867855,15603868,15489334,15325803,15153541,14702039,14556006,14556005,12477932 84868 AK027334,AK130144,AY069944,BC020843,BC063431,NM_032782,AC011377,CH471062,AF251707,AF450242,AF450243 BAB55044,AAL55401,AAH20843,AAH63431,Q8TDQ0,NP_116171,EAW61613,EAW61614,AAM19100,AAL65157,AAL65158 Hs.616365 FLJ14428|KIM-3|TIM3|TIMD3|Tim-3 protein-coding 1607073 HAX1 HCLS1 associated protein X-1 The protein encoded by this gene is known to associate with HS1, a substrate of Src family tyrosine kinases. It also interacts with the product of PKD2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Two transcript variants encoding different isoforms have been found for this gene. 11554782,10760273,9058808,18055975,17929250,17187068,16971486,16857965,16189514,15489334,15159385,12787133,12477932,14743216 10456 BF668367,CR593289,CR602994,CR603784,CR609915,CR611031,CR618741,EU190982,EU190983,U68566,NM_006118,NM_001018837,NG_007369,AL354980,CH471121,U40455,AK290626,BC005240,BC014314,BC015209,BC016730 ABW73998,ABW73999,AAB51196,O00165,Q5VYD7,NP_006109,NP_001018238,CAH70479,CAH70480,CAH70481,EAW53212,BAF83315,AAH05240,AAH14314,AAH15209,AAH16730 Hs.199625 HCLSBP1|HS1BP1|SCN3 protein-coding 1351471 HBA1 hemoglobin, alpha 1 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. 1600805,1600800,1600808,1600818,1600802,1600810 11410421,11402454,11304851,11157797,10722119,10722118,10569723,10569720,10477710,10206681,9665850,9494049,9494044,9373149,9322075,9269086,9215129,9054936,8745434,8537233,8537232,8537231,8448109,8294200,8294199,8195005,8195004,8148419,8125298,7811728,7786798,7713747,7615398,7558876,7555018,7518430,7470621,7448866,11499613,7448125,7402334,5927878,5913291,5870555,5782754,5782115,5780195,5714528,5696551,5675638,5650416,5639009,5460202,5453914,5436649,5410724,5356548,5129592,5122655,5115619,5085670,5085669,5081617,5033650,4986187,4982774,4971935,4961849,4834679,4824923,4744335,4743350,4719146,4646552,4600474,4550395,4528583,4429803,4429670,4347947,4228361,4212045,4135409,3997545,3973024,3937826,3937825,3935608,3841101,3839776,3839775,3839774,3839772,3781866,3754246,3754245,3667323,3654264,3623974,3583765,3454663,3384699,3384694,3236367,3142772,3026948,2869010,2833478,2831226,2752146,2703370,2649166,2634670,2634669,2634665,2606724,2599879,2599878,2574721,2500435,2411938,2347082,2283295,2272835,2117321,2108715,2101836,2079432,2079430,1983218,1975428,1802885,1802882,1686260,1671772,1634363,1634357,1634355,1618774,1549498,1512262,1511986,1486044,1428951,1428950,1428941,1259994,1225585,1191675,7390865,7389895,7380113,7378457,7373648,7358733,7338471,7275668,7275663,7275660,7238857,7216818,7213661,7161110,7161109,7068437,7055587,7010180,6946451,6882779,6874377,6874376,6860428,6841125,6815131,6814490,6805217,6783600,6691995,6618889,6548207,6547932,6547117,6526652,6500991,6469697,6469696,6452630,6403040,6317690,6308667,6297773,6244294,6188720,6153381,6089189,6082248,6038433,6034517,6032878,5988206,5972865,5967288,18458302,18215251,18211634,18166800,17916326,17724704,17691822,17626702,17512924,17394396,17351274,17191128,17132905,17129226,17070510,17040989,16933182,16898315,16822864,16760505,16728641,16545695,16540409,16466950,16370488,16302974,16123516,16042697,15941417,15921165,15921163,15882059,15824313,15768555,15616553,15495251,15489334,15481890,15365991,15182057,15008266,15008263,15008259,14649316,14649314,14576901,14508795,14236737,14093912,13954546,13872627,13863929,13703277,13500096,13454817,13260359,12779278,12673836,12667291,12665801,12525687,12477932,12200073,12054662,11939522,11939517,11937449,11877072,11833853,11791872,11570726,11558897,1182166,1177322,1174563,1164512,1138883,1115799,1115797,949045,949043,902765,901812,893135,893131,893128,852596,849454,822353,750553,740406,701092,701083,640856,640847,640841,604316,508945,478977,478976,478975,270752,234399,108887,31339,12646258 1600805,1600800,1600808,1600818,1600802,1600810 3039 DQ431198,DQ499018,J00153,J00157,M22813,M22814,V00491,V00492,Z84721,AF105974,AF281258,AF349571,AK223392,BC101846,BC101848,NM_000558,NG_000006,AE006462,AF230076,AF351127,AF363956,AF525460,AF536204,AY178732,AY178733,AY183122,AY196787,AY261678,AY298911,AY605050,CH471112,DQ011235,CR590481,CR591912,CR594455,CR594768,CR595290,CR597175,CR601946,CR602364,CR603054,CR604936,CR605579,CR605748,CR606053,CR606087,CR607972,CR611699,CR612274,CR612399,CR613306,CR616078,CR616441,CR618304,CR618751,CR619429,CR619550,CR619822,CR620969,CR622618,CR623359,CR623372,CR624135,CR625613,CR625739,CR626195 ABD95910,ABD95911,ABF56145,AAB59408,AAA52632,AAA52631,CAA23750,CAA23751,CAB06555,AAC97373,AAF90195,AAK37554,BAD97112,AAI01847,AAY30253,NP_000549,AAK61215,AAK61216,AAF72612,AAK15770,AAK50822,AAM83102,AAN04486,AAO22463,AAO22464,AAO24131,AAO42516,AAP44005,AAP56246,AAT36649,EAW85863,AAI01849,P69905,P78461,Q1HDT5,Q4ZGM8,Q53F97,Q6J1Z9,Q7Z6G4,Q7Z7B4,Q86YL2,Q86YQ1,Q86YQ4,Q86YQ5,Q96T46,Q9BX83,Q9NQT3,ABM85871,ABM87382 Hs.449630 GDB:119293 CD31|MGC126895|MGC126897 protein-coding 737064 HBA2 hemoglobin, alpha 2 The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. 1599361 12072504,7518430,7555018,17996867,17920577,17715390,17589844,17587614,17512924,17486499,16847316,16798639,16436049,16418531,16103716,15813858,15768558,15658192,15550245,15481895,15481894,15481888,15481883,15449937,15365991,15128423,15008265,14649319,14649316,14204459,13999302,12779276,12779274,12779273,12779272,12730694,12673836,12665801,12659864,12603095,12603094,12603093,12484636,12484634,12477932,7558871,7407925,7402334,7070526,7010180,6994493,6985477,6726807,6671902,6646217,6644819,6547932,6505702,6490612,6469697,6452630,6317690,6308667,6297773,6244294,12192002,12144065,12144061,12122004,11939522,11939521,11836160,11791875,11791870,11570724,11307949,11186269,11186266,11186265,11186260,11154980,10930828,10910890,10870886,10722113,10569726,10569723,10081983,9895333,9886305,9665850,9629496,9441940,9255611,9175734,8980683,8943885,8756078,8635221,8294199,8195006,8195005,8193381,7928378,5794113,5639009,5587575,5577460,4944483,4550395,4422784,4212045,4135409,3620699,3597771,3384700,3191134,3177365,2896623,2752146,2649166,2606724,2384313,2372512,2265255,2101838,2101836,2079431,1988759,1975428,1726096,1634363,1581238,1549498,1517104,1512262,1487423,1268216,1155453,1115799,1062801,909779,822353,486536,478977,13856,16189514,12360531,7615398 1599361 3040 CR592452,NM_000517,NG_000006,DQ499017,J00153,M24793,V00488,V00489,V00516,Z84721,AF097635,AF147332,BC005931,BC008572,BC032122,BC050661,CR590384,CR590419,CR590719,CR591330,CR592289,CR592332,CR592662,CR593261,CR593790,CR594781,CR595530,CR595536,CR597255,CR597819,CR599410,CR600653,CR601289,CR601323,CR603287,CR603647,CR606337,CR606457,CR606669,CR607347,CR608113,CR608818,CR610186,CR610372,CR612540,CR612601,CR613529,CR613936,CR614093,CR616339,CR616628,CR617808,CR618113,CR618898,CR624459,CR624742,CR624781,CR624782,V00493 NP_000508,ABF56144,AAB59407,AAA52630,CAA23748,CAA23749,CAA23774,CAB06554,AAC72839,AAH05931,AAH08572,AAH32122,AAH50661,CAA23752,P69905,ABM82687,ABM84035 Hs.654744 GDB:119294 hemoglobin, alpha 1 protein-coding 1606036 HBAP1 hemoglobin, alpha pseudogene 1 7407925,7402334,6308667,6297773,6089189,4135409,2831226,2411938,1549498,822353 3041 NG_000006,J00153 GDB:119295 pseudo 736606 HBB hemoglobin, beta The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. 1600891,1600894,704404,1600888,1600886,1600889,1600890,1600893,1600895,1600892,1600896 15727248,15713129,15692663,15658186,15615768,15609277,15607699,15599663,15591902,15565159,15555579,15538648,15528150,15489336,15489334,15482674,15481897,15481886,15481884,15476181,15385559,15327529,15315795,15307413,15256071,15198986,15153712,15147217,15108284,15084587,15073633,15060158,14738432,14722738,14649320,14649318,14649317,14649315,14649314,14645507,15727901,14642006,14627823,14587041,16466947,16418531,16381901,16356170,16254903,16227618,16199858,16184579,16175509,16156939,16156863,16132905,16103715,16085752,15979088,15973412,15956966,15948210,15921164,15885239,15882059,15870261,15858131,15839736,15795925,15795541,15793780,15780970,15767753,1512262,11747442,1971109,8292032,1540659,7965120,10588683,18458302,18428016,18392554,18339318,18308336,18294253,18291005,18266765,18235968,18081706,18071703,18056715,18022136,17961316,17925082,17920577,17918249,17894837,17881306,17724704,17720709,17688704,17665502,17654503,17654072,17654071,17612748,17565724,17564253,17519411,17516066,17508724,17490901,17486497,17486493,17445142,17394396,17339197,17301974,17196618,17160997,17158930,17140342,17135308,17133428,17096035,17095853,17056066,16990440,16956833,16943425,16916647,16898315,16885058,16877501,16859949,16858401,16855288,16848606,16798637,16722361,16637741,16537808,16508016,16480967,16470532,14585970,14555305,14529320,13897827,13872627,12955718,12941700,12920025,12908805,12865230,12846902,12799453,12736816,12709369,12709368,12629213,12603091,12581188,12581187,12555809,12477932,12454462,12419253,12394345,12360531,12242335,12217813,12217699,12144064,12144057,12122004,12082507,12054662,12034837,11999355,11997516,11971871,11965279,11939520,11939519,11939518,11939515,11939514,15741796,11939513,11939512,6292831,6280057,6272205,6270663,6264391,6254664,6210198,6194897,6194893,6184621,6166590,6165992,6155216,6095301,6086605,4852224,4850241,4639022,4531009,4129558,4123689,4053691,3937824,3879975,3879973,3857622,3838976,3754244,6292840,3744871,3718478,11939510,11939509,11939508,11920200,11909945,11890201,11877258,11869935,11860449,11857746,11843884,11843288,11833853,11827978,11823440,11822023,11812133,11804364,11804203,11800015,11782463,11778661,11741197,11582643,11570721,11499613,11486027,11480785,11300351,11300346,11300344,11186256,11132233,11132230,11111119,11076863,11043018,10954746,10930828,10791557,10666717,10398311,10233364,9843411,9830011,9761252,9521756,9006104,8980683,8811317,8745430,8718696,8718692,8682512,8642597,8641705,8602627,8522332,8330979,8330974,8330972,8318995,8144352,8111050,7907422,7693620,7555018,7378053,7373648,7358733,7338469,7338468,7238856,7173395,7162987,7161106,7151176,7076659,6985481,6985477,6985475,6895866,6857757,6726807,6714226,6701091,6687721,6652684,6644819,6629824,6629823,6629822,6618888,11939511,6587773,6526653,6457059,6434492,6330670,6327288,6324786,6303333,6297279,3707969,3691763,3666141,3654265,3623975,3620470,3557994,3455755,3384710,3384709,3384708,3384707,3382401,3267215,2933810,2921315,2649166,2634671,2599880,2581851,2578620,2578619,2513289,2399911,2384314,2101840,2079435,1986379,1917539,1917537,1917530,1814856,1787097,1634367,1634236,1602151,1567857,1517102,1511986,1507231,1487420,1374896,1301199,1247583,1195378,1177322,1138922,1115799,1019344,992050,893142,891976,873928,826083,822353,728996,721609,668922,635569,429365,271989,205979,88735,68958,67897,7716520,16189514,15910003,15565158 1600891,1600894,1600888,1600886,1600889,1600890,1600893,1600895,1600892,1600896 3043 M34059,M36640,S82767,U01317,U20223,V00498,V00499,AF117710,AF181832,AF181989,AF349114,AY136510,AY509193,BC007075,CR536530,CR541913,CR590940,CR594264,CR603426,M25660,CR609101,NM_000518,NG_000007,A01592,AC104389,AF007546,AF059180,AF083883,AF104901,AF105973,AF186606,AF186607,AF186608,AF186609,AF186610,AF186611,AF186612,AF186613,AF186614,AF186615,AF186616,AF186617,AF186618,AF186619,AF186620,AF305829,AF319479,AF348448,AF527577,AF540397,AJ871593,AJ877913,AY013299,AY013301,AY013302,AY027509,AY027800,AY136511,AY163866,AY260740,AY261679,AY264346,AY310318,AY341055,AY341056,AY356351,AY605051,AY605052,AY738615,AY744274,AY998983,CH471064,DQ026227,DQ029041,DQ074764,DQ118155,DQ126270,DQ126271,DQ126272,DQ126273,DQ126274,DQ126275,DQ126276,DQ126277,DQ126278,DQ126279,DQ126280,DQ126281,DQ126282,DQ126283,DQ126284,DQ126285,DQ126309,DQ126310,DQ126311,DQ126312,DQ126313,DQ126314,DQ126315,DQ126316,DQ126317,DQ126318,DQ126319,DQ126320,DQ126321,DQ126322,DQ126323,DQ126324,DQ126325,DQ150585,DQ192018,DQ659148,EF450778,K01899,L26462,L26463,L26464,L26465,L26466,L26467,L26468,DQ126286,DQ126287,DQ126288,DQ126289,DQ126290,DQ126291,DQ126292,DQ126293,DQ126294,DQ126295,DQ126296,DQ126297,DQ126298,DQ126299,DQ126300,DQ126301,DQ126302,DQ126303,DQ126304,DQ126305,DQ126306,DQ126307,DQ126308,L26469,L26470,L26471,L26472,L26473,L26474,L26475,L26476,L26477,L26478,L48213,L48214,L48215,L48216,L48217,L48220,L48931,L48932,CR621681,M11428,M25079,M25113,V00497,V00500 AAA35952,AAA52634,AAD14420,AAA16334,AAA16335,AAB60348,CAA23757,CAA23758,AAD19696,AAF00488,AAF00489,AAK29639,AAN11320,AAR96398,AAH07075,CAG38767,CAG46711,AAA53153,Q9UK54,Q9UM85,Q9UP81,CAL37415,CAL38229,ABM84085,ABM87452,ABW03575,NP_000509,CAA00182,AAB62944,AAD30656,AAL68978,AAC97372,AAC97959,AAF08258,AAF08259,AAF08260,AAF08261,AAF08262,AAF08263,AAF08264,AAF08265,AAF08266,AAF08267,AAF08268,AAF08269,AAF08270,AAF08271,AAF08272,AAG28779,AAK28066,AAK30154,AAM92001,AAN16468,CAI40296,CAI47563,AAG46182,AAG46184,AAG46185,AAK20080,AAK15811,AAN11321,AAN84548,AAP21062,AAP44006,AAP03091,AAP74754,AAQ24847,AAQ24848,AAQ63175,AAT36650,AAT36651,AAU85261,AAW66689,AAY15222,EAW68806,AAY51976,AAY46275,AAY84735,AAZ30391,AAZ39745,AAZ39746,AAZ39747,AAZ39748,AAZ39749,AAZ39750,AAZ39751,AAZ39752,AAZ39753,AAZ39754,AAZ39755,AAZ39756,AAZ39757,AAZ39758,AAZ39759,AAZ39760,AAZ39784,AAZ39785,AAZ39786,AAZ39787,AAZ39788,AAZ39789,AAZ39790,AAZ39791,AAZ39792,AAZ39793,AAZ39794,AAZ39795,AAZ39796,AAZ39797,AAZ39798,AAZ39799,AAZ39800,AAZ81986,ABA19233,ABG47031,ABO36678,AAA52635,AAA21100,AAA21101,AAA21102,AAA21103,AAA21104,AAA21105,AAZ39783,AAZ39761,AAZ39762,AAZ39763,AAZ39764,AAZ39765,AAZ39766,AAZ39767,AAZ39768,AAZ39769,AAZ39770,AAZ39771,AAZ39772,AAZ39773,AAZ39774,AAZ39775,AAZ39776,AAZ39777,AAZ39778,AAZ39779,AAZ39780,AAZ39781,AAZ39782,AAA21106,AAA21107,AAA21108,AAA21109,AAA21110,AAA21111,AAA21112,AAA21113,AAA21114,AAA21115,AAA21116,AAA88063,AAA88061,AAA88059,AAA88065,AAA88067,AAA88057,AAA99224,AAA88054,AAA52633,AAA35597,AAA35966,CAA23756,CAA23759,O95408,O95412,P68871,Q0JTD4,Q0Z944,Q14473,Q14477,Q14484,Q3L3Q5,Q3LR79,Q3Y9I8,Q4JLR8,Q4TWB7,Q4TZM4,Q52MT0,Q549N7,Q5GMQ1,Q5XTR9,Q6J1Z7,Q6J1Z8,Q6R7N2,Q6V0K9,Q6VFQ5,Q6VFQ6,Q7Z2K5,Q7Z7B3,Q86VF0,Q8IUL9,Q8IZI0,Q9BWU5,Q9BWV6,Q9BXA2,Q9GZL9,Q9H1I6,Q9HAR8,Q9UBV6,Q9UE59 Hs.523443 GDB:119297 CD113t-C|HBD hemoglobin beta chain complex protein-coding 1345937 HBBP1 hemoglobin, beta pseudogene 1 15108284,6098690,2649166 3044 NR_001589,NG_000007,AC104389,X02133,N55205 Hs.20205 GDB:120035 pseudo 1353990 HBD hemoglobin, delta The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. 1580863 680638,88735,3401592,3382401,3267215,2933810,2869009,2649166,2581851,2578620,2578619,2477064,2066116,2018846,1802885,1802883,1787103,1742490,1515647,1398286,1309671,1301204,1257702,1148221,952968,873928,822353,728996,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6210198,6194897,6194893,6184621,6165992,6155216,6095301,6086605,5956309,5909792,5824070,5678016,4995018,4852213,4850239,4625560,3879975,3879973,3857622,3841531,3455755,7555018,17145605,16370491,16370490,15921167,15757827,15489334,15449937,15234005,15108284,14478740,14236725,13968954,13892631,12736816,12477932,12402333,11939506,11860449,9101295,8537235,8401543,8364213,8330984,8118467,7713748,7438204,7162987,7151176,7129931,6985481,6985477,6985475,6895866,6714226,6701091,6652684,6629826,6629825,6548205,6469695,6457059,6397774,6330670,6327288,6324786,6311816,6303333 3045 EF051730,EF051731,EF058046,U01317,V00505,AY034468,BC069307,BC070282,BU664913,NM_000519,NG_000007,AC104389,AF339401,AF339402,AF339403,AF339404,AF339405,AF339406,AF339407,AF339408,AF339409,AF339410,AF339411,AF339412,AF339413,AF339414,AF339415,AF339416,AF339417,AY695366,CH471064,DQ157442 AAZ83699,ABK79071,ABK79072,ABK42072,AAA16333,CAA23763,AAK68847,AAH69307,AAH70282,P02042,Q4F786,Q670S4,Q9UE58,NP_000510,AAL72102,AAL72103,AAL72104,AAL72105,AAL72106,AAL72107,AAL72108,AAL72109,AAL72110,AAL72111,AAL72112,AAL72113,AAL72114,AAL72115,AAL72116,AAL72117,AAL72118,AAU08171,EAW68805 Hs.699280 GDB:119298 protein-coding 1312957 HBE1 hemoglobin, epsilon 1 The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' 1580863 7555018,17548470,17003365,16620781,16514181,16432873,15489334,15449937,15157738,15114532,15108284,12659864,12477932,11494285,11304851,11132230,10381533,9665850,9220539,7162987,7151176,6985481,6985477,6985475,6930885,6895866,6714226,6701091,6652684,6457059,6330670,6327288,6324786,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6254663,6210198,6194897,6194893,6184621,6172865,6165992,6155216,6095301,6086605,3879975,3879973,3857622,3455755,3382401,3267215,2933810,2921315,2649166,2581851,2578620,2578619,873928,822353,160554,88735 3046 NM_005330,NG_000007,AC104389,CH471064,M25037,U01317,V00508,BC015537,CR541912 NP_005321,EAW68802,AAA35954,AAA16330,CAA23766,AAH15537,CAG46710,P02100,Q14475,Q6FH44,ABM85544,ABW03731 Hs.655195 GDB:119299 HBE protein-coding 1605733 HBEGF heparin-binding EGF-like growth factor 10749879,8300582,8347598,1840698,15289334,15389565,17962208,17960400,17928891,17855771,17717322,17668298,17637826,17548351,17525275,17472728,17392284,17001310,16996055,16923819,16901467,16837648,16687414,16557002,16470170,16407398,16034135,15988409,15979989,15827558,15755902,15562026,15509542,15489334,15372022,15331606,15274392,15219838,15169883,15062539,14764442,14738873,14634113,14597771,14573593,12958167,12952982,12882762,12835543,12768307,12725245,12612909,12568494,12477932,12466384,12230876,12163414,12149405,12112577,12099696,12095415,11983897,11943653,11922634,11920609,11846885,11825873,11769972,11761337,11735113,11432822,11340068,11125426,10576204,9659904,9373149,9135143,8125298,8060360,8051092,7836353,7590736,7532176,3436221,1939101,1577791,1556128 1839 NM_001945,AC004634,AY164533,CH471062,L17030,L17031,AK222688,BC033097,M60278 NP_001936,AAC15470,AAN46738,EAW62069,AAA50563,AAA50564,BAD96408,AAH33097,AAA35956,Q14487,Q53H93,Q99075,Q9UMJ6 Hs.799 GDB:119853 DTR|DTS|DTSF|HEGFL protein-coding 1345458 HBG1 hemoglobin, gamma A The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. 1600575 17353931,18347053,17976188,17612629,17212360,16849648,16631597,15831451,15666429,15613485,15489334,15108284,14649320,14645237,12488461,12477932,12393583,12393499,12093744,11960008,11514664,11172039,9703422,8566966,8194849,7928382,7555018,6184621,6183236,6186637,6175602,6165992,6163752,6155216,6095301,6091051,6086605,6038320,6019034,5554303,5491586,4765089,4676910,4455303,3879975,3879973,3857622,3455755,3382401,3377986,3267215,3181130,2933810,7438203,7332928,7162987,7151176,6985481,6985477,6985475,6895866,6714226,6701091,6652684,6457059,6330670,6327288,6324786,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,6210198,6199326,6198905,6197997,6194897,6194893,6188719,2649166,2581920,2581851,2578620,2578619,2469505,2467893,2454900,2452784,2448269,2448268,2442092,2441598,2423160,2420697,2419280,2417989,2417646,2413469,2412617,2411679,2224140,1802881,1714434,1704803,1703137,1698280,1487421,1379347,1374633,1342932,1283810,1138921,881729,873928,822353,808940,318163,291015,88735 1600575 3047 AY534688,CH471064,J00176,M32249,M32724,NM_000559,NG_000007,AC104389,X55655,AF487523,M91036,M91037,U01317,V00513,V00514,BC010913,BC010914,BC020719,CR593382,CR594720,CR596479,CR604256,CR608640,CR608786,CR609411,CR614139,CR619706,CR619879,CR619938,CR620360,CR621032,CR622267,CR625875,CR626236,CR626417,CR626466,V00512 AAL99545,AAS48085,EAW68804,AAA52637,AAA58609,NP_000550,AAA35953,CAA23770,CAA39188,P69891,Q549G1,Q6QLV0,Q8TDA1,ABM83591,ABM83727,ABM87047,AAB59429,AAA58493,AAA16332,CAA23771,CAA23772,AAH10913,AAH10914,AAH20719 GDB:119300 HBGA|HBGR|HSGGL1|PRO2979 protein-coding 1351638 HBG2 hemoglobin, gamma G The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. 1600594,1600598 12477932,11827978,11791877,11514664,11172039,11132233,10722116,10722115,10722114,10335983,8718701,8718700,8566966,8144355,7741137,7713741,7687855,7687241,7558873,7438203,7332928,7250702,7162987,7151176,6985481,6985477,6985475,6895866,6814491,6714226,6701091,6652684,6457059,6330670,6327288,6324786,6303333,6297279,6292840,6292831,6280057,6272205,6270663,6264391,18266208,17365007,16956833,16370494,15798211,15645283,15489334,15231748,15108284,14649320,14087393,12543931,12488461,6210198,2459083,2459082,2442123,2442122,2441598,2435680,2420748,2416635,2413469,1726095,1714434,1706691,1703139,1703138,1698280,1127124,881729,873928,836882,822353,88735,6208955,6194897,6194893,6192110,6186636,6186635,6186522,6184621,6172403,6165992,6158500,6155216,6095301,6091051,6086605,5792729,5554303,4846278,4837284,4429671,4403130,3879975,3879973,3857622,3455755,3382401,3267215,6206897,3120456,2933810,2649166,2581919,2581851,2579547,2578620,2578619,2483933,2470017 1600594,1600598 3048 BC130457,BC130459,CR593022,CR593357,CR593470,CR593826,CR594576,CR595029,CR595535,CR599317,CR602719,CR602897,CR603041,CR604223,CR607395,CR609361,CR610392,CR613701,BC029387,NG_000007,AC104389,AY662983,M32250,M32723,M91036,M91037,U01317,V00515,X06490,AF110493,NM_000184,CR613883,CR615907,M15386,X55656,X55657 AAH29387,AAI30458,AAI30460,NP_000175,AAT98611,AAA58610,AAA35955,AAB59428,AAA58492,AAA16331,CAA23773,CAB58151,AAD19655,AAB50159,CAA39189,CAA39190,P69892,Q14402,Q14403,Q14412,Q14474,Q14476,Q14491,Q96FH6,Q9UJ01,Q9UNL6,ABM86835 Hs.302145 GDB:119301 protein-coding 1348198 HBM hemoglobin, mu The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. 15855277,12477932,3952001,2825132,2649166 3042 NG_000006,DQ431198,X03583,AY698022,BC035682,BC067870,CR597411,NM_001003938 NP_001003938,ABD95909,AAT92513,AAH35682,Q6B0K9 Hs.647389 GDB:119296 HBAP2 hemoglobin, alpha pseudogene 2 protein-coding 733921 HBP1 HMG-box transcription factor 1 9030690,17616670,17092945,16966377,16713569,16495219,16210625,16179914,15489334,15235594,15231748,15024088,14872137,14702039,12853948,12477932,11500377,11486012,10958660,10562551,9178770,16189514 26959 NM_012257,AC004492,CH236947,CH471070,AF019214,AF182038,AK025284,AK074353,AK122785,BC017069,BC022329,CR590649,CR594009,CR617831 NP_036389,AAC08317,EAW83392,EAW83393,EAW83394,AAB71862,AAD56225,BAB85059,AAH17069,AAH22329,O14790,O60381,ABM82502 Hs.162032 GDB:701889 FLJ16340 hmg-box containing protein 1 protein-coding 1313995 HBQ1 hemoglobin, theta 1 Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. 1580863 7555018,16728641,15489334,12477932,11157797,3422341,3408475,2921315,2649166,2569721 3049 M91453,X06482,BC056686,NM_005331,NG_000006,AE006462,CH471112,DQ431198,M33022 AAA58362,CAA29776,AAH56686,P09105,NP_005322,AAK61217,EAW85861,ABD95912,AAA52640 Hs.247921 GDB:120036 protein-coding 1318318 HBS1L HBS1-like (S. cerevisiae) 1580863 9872408,17712044,17592125,15489334,14702039,14574404,12477932,10470851 10767 NM_006620,AL353596,AL445190,CH471051,AB028961,AF161394,AJ420551,AJ459826,AJ459827,AK024258,AK292656,AL137664,BC001465,BC040849,BX648033,CR607684,U87791 NP_006611,CAI17912,CAI17914,CAI17915,CAI95160,CAI95161,EAW47980,EAW47981,EAW47982,EAW47983,EAW47984,BAA82990,AAF28954,CAD30873,CAD30874,BAF85345,CAB70865,AAH01465,AAH40849,AAD00645,Q4VX89,Q4VX90,Q5T7G1,Q9NSX9,Q9P0A5,Q9Y450 Hs.378532 GDB:9958255 DKFZp686L13262|EF-1a|ERFS|HBS1|HSPC276 protein-coding 1312775 HBXIP hepatitis B virus x interacting protein This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. 1580863 12773388,9499022,18032378,17428866,17050029,16176273,16169070,16055925,15955450,15489334,14702039,12477932,11925594,11788598,14578865 10542 NM_006402,AL390797,CH471122,AA443738,AF029890,AK054769,AK056679,AY623819,BC062619,BX092018,CR456866,CR542130,CR602221 NP_006393,CAH71488,EAW56447,AAC52032,AAV30683,AAH62619,CAG33147,CAG46927,O43504 Hs.439815 GDB:9957610 MGC71071|XIP protein-coding 1316709 HBZ hemoglobin, zeta Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult like. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. 1580863 1549498,822353,16189514,7555018,15755797,15555579,15489334,12477932,11747442,11494285,11157797,10381533,9054936,7402334,6963223,6308667,6297773,6179844,6172357,6171809,6089189,4135409,2649166,2411938 3050 NG_000006,AE006462,CH471112,DQ431198,J00182,Z84721,BC027892,CR456848,M24173,NM_005332 AAK61214,EAW85864,ABD95908,AAB59406,CAB06552,AAH27892,CAG33129,AAA61306,P02008,Q1W6G9,Q6IBF6,ABM85006,ABW03672,NP_005323 Hs.585357 GDB:119302 protein-coding 1353128 HBZP hemoglobin, zeta pseudogene 6745241,6308667,6297773,2825132,2649166 3051 NG_000006,J00184 GDB:120037 pseudo 1602095 HCCA2 HCCA2 protein 15489334,15067004,14702039,12477932,11223154,11181995 81532 NM_053005,AC091196,CH471158,AB028173,AB066564,AJ580639,AK057350,BC035317,BC047291,BC058934,BC067785,BX537373,CR591411,CR592866,CR607171,CR623644 NP_443731,BAB18568,BAB62266,CAE45271,BAB71443,AAH47291,AAH67785,CAD97615,Q70IA6 Hs.370360 MOB2 protein-coding 1352684 HCCS holocytochrome c synthase (cytochrome c heme-lyase) 1600417,1580863 8661044,11827457,17893649,17033964,16263763,15489334,14702039,12477932,12444108,9674913,8364577 1600417 3052 NM_005333,NM_001122608,AC003657,AF053015,CH471074,AK097815,AU310864,BC001691,BC095455,CR594352,CR615500,CR749578,U36787 NP_005324,NP_001116080,AAC35274,EAW98783,EAW98784,EAW98785,AAH01691,AAH95455,CAH18370,AAB19007,P53701,Q68D50 Hs.211571 GDB:262123,GDB:636832 CCHL|DKFZp779I1858|MCOPS7 protein-coding 1345622 HCFC1 host cell factor C1 (VP16-accessory protein) This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863 14532282,12743030,12477932,12271126,12244100,12235138,11340173,10976766,10958670,10871379,10779346,10637318,10629049,9889203,9315674,8661027,7829097,7590226,15199122,9822615,11733490,9658067,9389645,8454622,12149646,1448082,10821850,7597030,14983011,12670868,10675337,8392914,10623756,7876203,17612494,17578910,17567994,17081983,16964243,16633736,16624878,16042417,15966902,15931389,15705566,15522876,15489334,15200950,15190068 3054 AAB27583 CH471172,X79198,BC010606,BC019887,BC030560,BC063435,DQ655939,L20010,NM_005334 NP_005325,EAW72767,EAW72768,EAW72769,CAA55790,AAH19887,AAH30560,AAH63435,AAB27583,P51610,Q05C05 Hs.83634 GDB:388714 CFF|HCF-1|HCF1|HFC1|MGC70925|VCAF protein-coding 1351730 HCFC1R1 host cell factor C1 regulator 1 (XPO1 dependent) 12477932,12235138 54985 NM_001002017,NM_017885,NM_001002018,AC108134,CH471112,AK000575,AY116892,BC064026,BC065514,BC080178,BM790570,BM925785,CR457245 NP_001002017,NP_060355,NP_001002018,EAW85424,EAW85425,EAW85426,EAW85427,BAA91265,AAM49798,AAH64026,AAH80178,CAG33526,Q68EN7,Q9NWW0 Hs.423103 FLJ20568|HPIP|MGC70711|MGC99622 host cell factor c1 regulator 1 (xpo1 dependant) protein-coding 1316555 HCFC2 host cell factor C2 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. 737633,1580863 10196288,16344560,15489334,15199122,12477932,9373149,8125298 737633 29915 NM_013320,AC078819,AC084359,AC089983,CH471054,AF117210,AI247087,AK223342,AK313466,BC006558,BC033799,DB030069 NP_037452,EAW97736,EAW97737,AAD27814,BAD97062,BAG36252,AAH06558,AAH33799,Q53FE7,Q96DF3,Q9Y5Z7,ABZ92020 Hs.506558 FLJ94012|HCF-2|HCF2 protein-coding 1354379 HCG10P HLA complex group 10 pseudogene 493819 1344561 HCG11 HLA complex group 11 14702039 493812 AK024111 Hs.610941 FLJ14049|FLJ30357|bK14H9.3 protein-coding 1347135 HCG12 HLA complex group 12 12477932 493826 NR_002831,AL590705,BC058829,BC070371 Hs.648180 bA457M11.2 miscrna 1344045 HCG13P HLA complex group 13 pseudogene 493813 1354076 HCG14 HLA complex group 14 414760 AL662871 dJ111M5.4 protein-coding 1344551 HCG15 HLA complex group 15 414761 1347152 HCG16 HLA complex group 16 414766 1352352 HCG17 HLA complex group 17 414778 AB023055 miscrna 1342994 HCG18 HLA complex group 18 14702039 414777 XM_933653,XM_936164,XM_944855,AL662795,AL773535,AL844220,AL845452,AK055657,AK056160,CR599963,CR606587,CR624833 XP_938746,XP_941257,XP_949948 Hs.485041 FLJ25550|FLJ31095|FLJ31598 protein-coding 1345560 HCG19P HLA complex group 19 pseudogene 414776 1346831 HCG20 HLA complex group 20 414774 1350067 HCG21 HLA complex group 21 414775 1353415 HCG22 HLA complex group 22 14702039 285834 XM_496804,NR_003948,AL669830,AL805909,AK094433 XP_496804 Hs.207528 FLJ37114 pseudo 1348807 HCG23 HLA complex group 23 414764 1351536 HCG24 HLA complex group 24 414768 1348434 HCG25 HLA complex group 25 414765 1350954 HCG26 HLA complex group 26 16702430 414773 AB088105 bCX205D4.4|bPG181B23.4 miscrna 1353303 HCG27 HLA complex group 27 737633 16344560,14702039,12477932 737633 253018 NM_181717,AL662833,AL662844,AL845458,BX322539,CH471081,AK097442,BC041465,BC104432,BC104433,DB027671 NP_859068,EAX03370,EAX03371,EAX03372,BAC05055,AAH41465,AAI04433,AAI04434,Q3SX87,Q5U5P9,Q8N820 Hs.659818 FLJ40123|MGC129794|MGC129795|bCX101P6.9|bPG299F13.9|bQB115I13.2 protein-coding 1351896 HCG2P1 HLA complex group 2 pseudogene 1 387484 1343348 HCG2P2 HLA complex group 2 pseudogene 2 387502 1348287 HCG2P4 HLA complex group 2 pseudogene 4 387501 1351882 HCG2P6 HLA complex group 2 pseudogene 6 10557312 353006 NG_002398,AL671277,BA000025 HCGII-6|HCGII.1 pseudo 1344810 HCG2P7 HLA complex group 2 pseudogene 7 10557312 80867 NR_001318,NG_002398,AB023057,AL645929,AL645935,X81001 Hs.661100 HCGII-7|HCGII.2 pseudo 1346547 HCG2P8 HLA complex group 2 pseudogene 8 10557312 353012 NG_002737,AL671561,AL844851,BA000025 HCGII-8|HCGII.3 pseudo 1602396 HCG3 HCG3 gene 16189514,15891074,12477932 414061 NM_001001394,NG_002601,AC114812,AY083665,BC017590,BC024013 NP_001001394,AAY24024,AAM08934,AAH17590,AAH24013,Q8WWF6 Hs.554822 MGC26879 protein-coding 1348159 HCG4 HLA complex group 4 17971048,12477932 54435 NR_002139,AL645939,AF036977,BC011879,BC021249 AAD02090 Hs.660431 HCGIV.9 pseudo 1351991 HCG4P1 HLA complex group 4 pseudogene 1 387503 1350129 HCG4P10 HLA complex group 4 pseudogene 10 10557312 353017 NG_002741,AL645939,AL671561,AL844851,BA000025 HCGIV-10|HCGIV.9 pseudo 1348171 HCG4P11 HLA complex group 4 pseudogene 11 10557312 353020 NG_002744,BA000025 HCGIV-11|HCGIV.10 pseudo 1348369 HCG4P2 HLA complex group 4 pseudogene 2 387504 1344229 HCG4P3 HLA complex group 4 pseudogene 3 10557312 353001 AL671277,BA000025,NG_002398 HCGIV-03|HCGIV-3|HCGIV.2 pseudo 1343995 HCG4P4 HLA complex group 4 pseudogene 4 10557312 353002 NG_002398,AL671277,BA000025 HCGIV-04|HCGIV-4|HCGIV.3 pseudo 1353380 HCG4P5 HLA complex group 4 pseudogene 5 10557312 353003 NG_002398,AL671277 HCGIV-05|HCGIV-5|HCGIV.4 pseudo 1349547 HCG4P6 HLA complex group 4 pseudogene 6 14702039,10557312 80868 NR_001317,NG_002398,AB023056,AL645935,AL671277,AL845454,AK056727,X81005 BAB71265,Q96MM2 Hs.181244,Hs.661198 HCGIV-06|HCGIV-6|HCGIV.5|bCX67J3.3|bPG309N1.1|bQB90C11.3 pseudo 1346603 HCG4P7 HLA complex group 4 pseudogene 7 10557312 353004 NG_002398,AL645929 HCGIV-07|HCGIV-7|HCGIV.C pseudo 1352669 HCG4P8 HLA complex group 4 pseudogene 8 10557312 353005 NG_002398,AL645929,AL645939 HCGIV-08|HCGIV-8|HCGIV.7 pseudo 1604944 HCG4P9 HLA complex group 4 pseudogene 9 10557312 353014 NG_002739,BA000025 HCGIV-09|HCGIV-9 pseudo 1347465 HCG8 HLA complex group 8 10557312,8575815 80869 X92110 1345986 HCG9 HLA complex group 9 This gene lies within the MHC class I region on chromosome 6p21.3. The function of the encoded protein has not been determined. 16702430,10727083,10557312,8753856,8575815 10255 NM_005844,NG_002398,AB023056,AB088085,AB103591,AB202080,AF055066,AL645935,AL671277,AL845454,AP000519,CH471081,X92109,AK289926,X95289 NP_005835,BAC54918,BAF31255,BAE78599,AAC24824,BAB63335,EAX03247,CAA63081,BAF82615,CAA64611,Q5SPM1,Q93065,Q96QB4,AAI48574,AAI56750 Hs.656251 HCGIX|HCGIX-4|HCGIX4 protein-coding 1351443 HCG9P1 HLA complex group 9 pseudogene 1 387505 1351523 HCG9P2 HLA complex group 9 pseudogene 2 387506 1345524 HCG9P3 HLA complex group 9 pseudogene 3 387507 1352356 HCG9P5 HLA complex group 9 pseudogene 5 10557312 353019 NG_002743,AL645939,AL669813,BA000025 HCGIX-5|dJ377H14.6 pseudo 1347510 HCHOLA4 hypercholesterolemia, autosomal dominant 4 246132 GDB:11508973 732471 HCK hemopoietic cell kinase The protein encoded by this gene is a protein-tyrosine kinase that is predominantly expressed in hemopoietic cell types. The encoded protein may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Alternate translation initiation site usage, including a non-AUG (CUG) codon, results in the production of two different isoforms, that have different subcellular localization. 1580863 7859737,12029088,3453117,3496523,17893228,17668209,17535448,17141806,17081983,17024369,16210316,15952790,15626739,15489334,15263807,15144186,15010462,14969582,14702039,14551213,14551197,12900520,12769846,12748290,12734187,12626508,12600646,12592324,12576423,12538589,12522270,12496276,12477932,12244095,12235133,12181444,11994282,11976726,11940572,11904303,11780052,11741929,11689697,12033791,10364375,9656992,11533201,12076760,11448168,16454711,10574946,16849330,10642173,9024665,10547288,8599760,15638726,15078178,11463741,10544125,9705913,7588629,12734410,11328823,11896602,16189514,14993658,11500821,11350938,11294897,11278465,11239464,11160694,11097855,11071635,10973280,10967098,10934191,10918587,10858437,10849448,10799548,10749872,10586033,10527858,10318861,10092522,10068673,9890970,9837776,9790917,9778343,9742969,9571048,9407116,9400828,9373149,9268059,9218412,9195918,9178913,9109402,9024658,9020138,8955135,8885868,8657103,8626374,8125298,8064233,8058772,7791757,7782336,7682059,1875927,1720539,1689310,1572549,1373873,15595833,15491611,10388555 3055 AK225819,AK289896,AK290928,BC014435,BC094847,NM_002110,AL049539,AL353092,CH471077,M73233,X58741,AK026432,BC108930,BC108931,BC113854,BC114463,CR594271,M16592 BAF82585,BAF83617,AAH14435,AAH94847,NP_002101,CAI22966,CAI22967,CAI19694,CAI19695,EAW76392,EAW76393,EAW76394,CAA41565,BAB15482,AAI08931,AAI08932,AAI13855,AAI14464,AAA52644,P08631 Hs.655210 GDB:119303 JTK9 protein-coding 1342481 HCL1 hair color 1 (brown) 3056 GDB:119304 1348375 HCL2 hair color 2 (red) 3057 GDB:119305 1350821 HCL3 hair color 3 (brown) 8875191 3058 GDB:4590307 1312380 HCLS1 hematopoietic cell-specific Lyn substrate 1 1580863 2587259,8978766,17508001,16189514,16157603,16094384,15795233,15754022,15710041,15570572,15489334,15166239,15144186,15022330,14702039,12534372,12522270,12477932,11988074,11689006,10806407,10590261,10233887,10066823,9373149,9104825,9058808,8713105,8125298,7927516,16713569,7682714 3059 NM_005335,AC133750,CH471052,AK124015,AK225633,BC016758,BT006824,CA447092,CR456794,DC407066,X16663 NP_005326,EAW79505,EAW79506,AAH16758,AAP35470,CAG33075,CAA34651,P14317,Q53Y93,Q6IBK9,ABM81590,ABM84770 Hs.14601 GDB:637784 CTTNL|HS1 protein-coding 733930 HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 Hyperpolarization-activated cation channels of the HCN gene family, such as HCN1, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM] 1580863 9405696,18454440,18081024,17931874,16382102,14702039,12928435,12890777,12668666,12598605,12034718,11133998,9921901,9634236,9630217,8889548 348980 NM_021072,AC099514,AC114975,AC117529,AC138520,CH471119,AF064876,AF488549,AK094523,BM931647,BX537747,CR601376 NP_066550,EAW56077,EAW56078,AAC39759,AAO49469,O60741,Q86WJ6,AAI56455 Hs.650434 GDB:9864248 BCNG-1|BCNG1|HAC-2 hyperpolarization-activated, cyclic nucleotide-gated potassium channel 1 (hcn1) protein-coding 732305 HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 1580863 11133998,11076863,10524219,9921901,9405696,10228147,9630217,17931874,17043149,16777944,16382102,15980171,15961404,15932727,15687126,15057824,12928435,12890777,12813043,12640457,12477932,12194012,12034718 610 NM_001194,AC004449,AC005559,AJ133727,CH471242,AF064877,AF065164,AJ012582,BC039619,DQ854815 NP_001185,AAC33280,CAB42630,EAW61179,AAC39760,AAC28444,CAB42602,ABI75145,Q09ND3,AAI18002,Q9UL51 Hs.124161 GDB:9864249 BCNG-2|BCNG2|HAC-1 protein-coding 1605973 HCN3 hyperpolarization activated cyclic nucleotide-gated potassium channel 3 16710414,16382102,16043489,15489334,14702039,12477932,10819331,9634236,9405696,12928435 57657 NM_020897,AL713999,CH471121,AB040968,AF488550,AK055840,BC000066,BC028024,BC111364,CR625647 NP_065948,CAI95100,EAW53081,EAW53082,EAW53083,EAW53084,EAW53085,EAW53086,BAA96059,AAO49470,AAH00066,AAH28024,AAI11365,Q2T9L6,Q86WJ5,Q9P1Z3,AAI56231,AAI57071 Hs.706960 GDB:11510060 KIAA1535|MGC131493 protein-coding 737126 HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 1580863 10228147,17977941,17646576,16777944,16407510,16382102,15687126,15123648,12928435,12856183,12813043,12750403,12194012,10430953 10021 NM_005477,AC009660,AC068397,CH471082,AJ132429,AJ238850 NP_005468,EAW77925,CAB42604,CAB52754,Q9Y3Q4,AAI56299 Hs.655151 GDB:9954892 hyperpolarization-activated, cyclic nucleotide-gated k+ 4 protein-coding 1349217 HCP5 HLA complex P5 1580863 14702039,12477932,10553908,10199916,9799336,8462994 10866 NM_006674,AL645933,AL662866,CH471081,D88650,AK093953,AK290875,BC106759,BC114462,BX640979,CR626077,L06175 NP_006665,EAX03398,EAX03399,EAX03400,BAF83564,AAI06760,CAE45991,AAA59986,Q6MZN7 Hs.654480 D6S2650E|P5-1 protein-coding 1605218 HCP5P10 HLA complex P5 pseudogene 10 10727083,10557312,7894158 352990 NG_002398,AB023057,AL645929,AL671561,BA000025 P5-10|P5.9 pseudo 1348560 HCP5P12 HLA complex P5 pseudogene 12 10557312,10553908 353011 NG_002736,AL671561,BA000025,BX001005 P5-12|P5.5|dJ377H14.11 pseudo 1352692 HCP5P13 HLA complex P5 pseudogene 13 10557312 353016 NG_002740,AL645939,BA000025 J377H14.12|P5-13|P5.10|dJ377H14.12 pseudo 1344703 HCP5P14 HLA complex P5 pseudogene 14 10557312 353018 NG_002742,AL645939,AL669813,AL844851,BA000025 P5-14|P5.6|dJ377H14.13 pseudo 1353649 HCP5P15 HLA complex P5 pseudogene 15 10557312,10553908 353021 NG_002745,AL669813,BA000025 P5-15|P5.11|bPG170G13.1|dJ377H14.10 pseudo 1347531 HCP5P2 HLA complex P5 pseudogene 2 10557312,7894158 352998 NG_002398,AB023056,AL671277,BA000025 P5-02|P5-2|P5.2 pseudo 1344209 HCP5P3 HLA complex P5 pseudogene 3 10557312,7894158 352997 NG_002398,AB023056,AF055066,AL671277,BA000025 P5-03|P5-3|P5.3 pseudo 1342635 HCP5P6 HLA complex P5 pseudogene 6 10557312,10553908,7894158 352993 NG_002398,AB023056,AL645935,AL928614,BA000025 P5-06|P5-6|P5.4|bPG8G10.1 pseudo 1349202 HCP5P8 HLA complex P5 pseudogene 8 387508 731040 HCRT hypocretin (orexin) neuropeptide precursor This gene encodes a hypothalamic neuropeptide precusor protein that gives rise to two mature neuropeptides, orexin A and orexin B, by proteolytic processing. Orexin A and orexin B, which bind to orphan G-protein coupled receptors HCRTR1 and HCRTR2, function in the regulation of sleep and arousal. This neuropeptide arrangement may also play a role in feeding behavior, metabolism, and homeostasis. 1298943,728644,1358428,1358427,1358429,1358430,1600922,1600925,1600933,1600936,704404,1600919,1600923,1600935,1600932,1580863,1642016,1642020 9419374,16202475,16157481,16135994,16124668,15985489,15978554,15070969,12873798,12732338,12609745,12477932,12414876,11854267,11723284,11340621,11283317,11076863,10973318,10583376,10364220,9527442,9491897,9491885,18006690,17868933,17576097,17376528,16429482,16338760 1298943,728644,1358427,1358429,1358430,1600922,1600925,1600933,1600936,1600919,1600923,1600935,1600932,1642016,1642020 3060 NM_001524,AC099811,AF118885,CH471152,AF041240 NP_001515,AAD24459,EAW60810,AAC39600,O43612,AAI11916 Hs.158348 GDB:9836114 OX|PPOX protein-coding 734418 HCRTR1 hypocretin (orexin) receptor 1 HCRTR1, or orexin 1 receptor (OX1R), is a G-protein coupled receptor expressed in the hypothalamus and involved in the regulation of feeding behaviour. HCRTR1 selectively binds the orexin A neuropeptide. It shares 64% identity with HCRTR2. 728644,1580863,1642020,1642016 11340621,11283317,10973318,9527442,9491885,9419374,9491897,17999203,17089135,16282319,16157481,15978554,15797953,15611118,15070969,12690115,12477932,11856342,11723285,11443222 728644,1642020,1642016 3061 AK290521,BC035686,BC074796,CR605321,NM_001525,AC114488,AF202084,AY062030,AY070269,CH471059,AF041243 BAF83210,AAH74796,O43613,Q9HBV6,NP_001516,AAG28020,AAL47214,AAL50221,EAX07600,EAX07601,EAX07602,AAC39601 Hs.388226 GDB:9836117 OX1R protein-coding 1351591 HCRTR2 hypocretin (orexin) receptor 2 HCRTR2 is a G-protein coupled receptor expressed exclusively in the brain. It has 64% identity with HCRTR1. HCRTR2 binds both orexin A and orexin B neuropeptides. HCRTR2 is involved in the central feedback mechanism that regulates feeding behaviour. 728644,1580863,1642020,1642016 9491897,17883525,17645762,17563843,17376114,16554494,15978554,15797953,15477554,15274044,15070969,12477932,11830291,11723285,11600545,11549701,11443222,11340621,11297593,11283317,11158046,11076863,10981966,10973318,9527442,9491885,9419374 728644,1642020,1642016 3062 EF633110,NM_001526,AF202091,AL449104,AL591718,AY062031,CH471081,AF041245,BC035858,EF633107,EF633108,EF633109 ABR23650,ABR23651,O43614,Q548Y0,Q5VTM0,AAI11377,NP_001517,AAG28021,CAI19665,CAH73407,AAL47215,EAX04440,AAC39602,ABR23648,ABR23649 Hs.151624,Hs.699147 GDB:9836120 OX2R protein-coding 1350033 HCST hematopoietic cell signal transducer This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 16339517,15048706,12975309,12740575,12477932,12426565,12426564,11398969,11239445,11015446,10528161,10426994 10870 AF072845,AF072844,AF122904,AF172929,AF285447,AL050163,AY359058,BC035931,BC046348,BC065224,NM_014266,NM_001007469,AD000864 AAD46987,AAD46986,AAD47911,AAD50293,AAG29425,CAB43303,AAQ89417,AAH35931,AAH46348,AAH65224,Q9UBK5,NP_055081,NP_001007470 Hs.117339 DAP10|DKFZP586C1522|KAP10|PIK3AP protein-coding 1346273 HCVS human coronavirus sensitivity 6285532 3063 GDB:119306 1320330 HDAC1 histone deacetylase 1 Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. 1580863 14645126,14633989,14530259,14506250,13679859,12972430,12947414,12943729,12920132,12890497,12847090,12829790,12821938,12808109,12789259,12724404,12705869,12670868,12665570,12634383,12612053,12590135,12586827,12579268,12567184,12493763,12482978,12477932,12466959,12464179,12450794,12426395,12398767,12393750,11062478,11136718,12711221,9150135,8646880,15509593,10777477,10846170,18362831,18347167,18342621,18212746,18093978,18037904,18004079,17996965,17961987,17935135,17923479,17897615,17850504,17670825,17786334,17663720,17609203,17548428,17470557,17395887,17371848,17369852,17239852,17081983,17056544,17022812,17005678,16960727,16914734,16914725,16870149,16569215,16528103,16377629,16374504,16337145,16319923,16287849,16172792,16166625,15927959,15829968,15826950,15722551,15668237,15653507,15635413,15592455,15590418,15489334,15469820,15467736,15456747,15451426,15361834,15333839,15325272,15316101,15298701,15273251,15235594,15207703,15199155,15194748,15155736,15138260,15077161,15042618,15016876,14968110,14691252,14647463,14645718,12354758,12242670,12202768,12198165,12177302,12176973,12124384,12091390,12087472,12052894,12045192,12032298,12032081,11994312,11960997,11959842,11940654,11931769,11929879,11919195,11909966,11896613,11867749,11855854,11836251,11788710,11749695,11739383,11684023,11641275,11641274,11602581,11568182,11564889,11552981,11532945,11486045,11438660,12374985,11430826,10704340,10688671,10669754,10655483,10615135,10581039,10490602,10487760,10471500,10471499,10444591,10409740,10357820,10220405,10199400,9804427,9790534,9724731,9722949,9694793,9651585,9650586,9627120,9520398,9491888,9468140,9468139,9373149,9371597,9150134,9150133,8602529,8602525,8289393,8125298,7760804,16838299,11238380,16189514,12419806,11470869,11171972,10220385,10779361,14637159,12015309,11804585,11777905,11466315,15148359,11022042,10995736,11533236,10545197,11931768,10640275,12242305,12015313,12183469,12788099,12393887,11756549,11427533,11390640,11350943,11331609,11319226,11302704,11287668,11285237,11259576,11238932,11226163,11146623,11118440,11102443,11099047,11013263,11006275,10969803,10944117,10933397,10904264,10898795,10888886,10888618,10873456,10840944,10734134,9346952,14668799,15388328,15710329,11447271,15711539,15120635,15688037,15775975,15619633,15735762,15674334,14506733,9486654,12665568,12150997 3065 NM_004964,AL109945,CH471059,AK225555,AY627042,BC000301,CR541717,CR604646,CR611580,CR616540,CR624142,D50405,U50079,BX648055 NP_004955,CAI22885,CAI22886,EAX07540,EAX07541,AAT44863,AAH00301,CAG46518,BAA08909,AAC50475,Q13547,Q5HYD4,Q6IT96,CAI46269,ABM82324,ABM85503 Hs.88556 GDB:701614 DKFZp686H12203|GON-10|HD1|RPD3|RPD3L1 protein-coding 1314168 HDAC10 histone deacetylase 10 Acetylation of histone core particles modulates chromatin structure and gene expression. The opposing enzymatic activities of histone acetyltransferases and histone deacetylases, such as HDAC10, determine the acetylation status of histone tails (Kao et al., 2002 [PubMed 11677242]).[supplied by OMIM] 1580863 11861901,11677242,17892858,15489334,15461802,15305372,14759258,12477932,11739383,11726666,10591208,8889548,14578343 83933 AL022328,CH471138,AB209419,AF393962,AF407272,AF407273,AF426160,AL512711,AY450395,BC032049,BC032423,BC094734,BC125082,BC125083,BM983038,CA424576,CR456465,CR607842,CR609920,CR618050,CR625146,NM_032019 NP_114408,EAW73511,EAW73512,EAW73513,EAW73514,EAW73515,EAW73516,EAW73517,EAW73518,EAW73519,EAW73520,BAD92656,AAK84023,AAK92205,AAK92206,AAL30513,CAC21653,AAS48345,AAI25083,AAI25084,CAG30351,Q08AP5,Q59FP1,Q5JZ79,Q969S8,CAK54446,CAK54745 Hs.26593 GDB:11506123 DKFZP761B039|MGC149722 protein-coding 1323302 HDAC11 histone deacetylase 11 Histone deacetylases, such as HDAC11, control DNA expression by modifying the core histone octamers that package DNA into dense chromatin structures and repress gene expression.[supplied by OMIM] 1580863 11948178,12711221,11256614,17201809,16381901,16142391,15489336,15489334,14702039,12477932,11076863,16189514 79885 AC027124,CH471055,AK025426,AK025890,AL137362,AL834223,BC009676,CR457341,CR603019,CR612266,NM_024827 NP_079103,EAW64157,EAW64158,EAW64159,EAW64160,EAW64161,EAW64162,EAW64163,EAW64164,EAW64165,EAW64166,EAW64167,EAW64168,EAW64169,BAB15127,BAB15272,CAB70712,CAH56375,AAH09676,CAG33622,Q0JS14,Q658J9,Q6IA14,Q96DB2,CAL37920,CAL38700 Hs.661908 GDB:11510062 FLJ22237 protein-coding 1312509 HDAC2 histone deacetylase 2 This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes and are responsible for the deacetylation of lysine residues on the N-terminal region of the core histones (H2A, H2B, H3 and H4). This protein also forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus it plays an important role in transcriptional regulation, cell cycle progression and developmental events. 1580863 15665816,15653507,15635413,15489334,15456770,15456747,15451426,15342556,15325272,15146197,15144953,15138260,15120635,15060175,15016876,14702039,14574404,14512427,12975471,12972430,12947414,12943729,12920132,12829790,12788942,12724404,12705869,12682367,12670868,11062478,12711221,8917507,18347167,18316616,18212746,17935135,17827154,17786334,17322895,17081983,17043312,16951198,16595694,16565220,16464847,15927959,15775975,12634383,12586827,12493763,12477932,12419806,12398767,12198164,12176973,12151407,12140263,12138131,12124384,12091390,12082111,12032298,12015313,12007404,11923873,11919195,11867749,11836251,11788710,11779848,11739383,11641274,11532945,11486036,11331609,11302704,11287668,11259576,11171972,11146623,11102443,11022042,11013263,10933397,10904264,10888872,10766745,10669754,10644367,10581039,10545197,10508171,10490602,10471500,10471499,10444591,10357820,10220405,9874765,9790534,9782097,9722949,9520398,9346952,9150135,9150134,8646880,12198550,12183469,9651585,11238380,12374985,11804585,11777905,11564889,11466315,11533236,12393887,12527756,11756549,12354758,9804427,15388328,15467736,11430826,15619633 3066 NM_001527,AL590398,AL671967,CH471051,AA704179,AB209190,AK092156,AK097376,AV719958,BC013141,BC031055,BM550464,BP201509,CN304190,CN315003,CR606645,CR610322,U31814 AAI48798,NP_001518,CAI14206,CAI14207,CAI15363,EAW48252,EAW48253,EAW48254,EAW48255,BAD92427,AAH31055,AAC50814,Q59GB9,Q92769,AAI46377 Hs.3352 GDB:4562686 RPD3|YAF1 protein-coding 731326 HDAC3 histone deacetylase 3 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. 1580863 11923873,11867749,11867539,11861901,11804585,11788710,11779848,11777905,11641275,11641274,11567998,11533489,11509652,11470869,11466315,11463856,11302704,11259576,11013263,11006275,10944117,10898795,10860984,10809664,12711221,10777477,18347167,18326024,18212746,18097041,17956871,17925399,17908689,17849419,17786334,17675290,17158926,17101790,17008592,17007107,16980585,16849648,16730330,16712523,16569215,16528103,16432238,16298343,16249187,16129885,16033423,16022908,15927959,15917248,15805470,15761026,15653507,15572445,15561719,15489334,15469820,15356147,15333839,15297880,15292260,15184363,14684825,14525983,14521922,12972430,12943985,12861000,12853483,12628926,12590135,12502735,12479814,12477932,12419806,12393887,12242670,12239342,12150997,12048199,12032081,11931768,10669754,10655483,10581039,10575214,10490602,10220385,10051405,9722949,9501169,9464271,9360932,9346952,16189514,12015313,10869435,14527417,11533236,11486036,15558026,14668799,17353931,15467736,11022042,15711539,15619633,15494311 8841 NM_003883,AC008781,AF053137,AF053138,AF053139,AF059650,CH471062,AF005482,AF039703,AY429538,BC000614,BM461585,CR592966,CR594024,CR603837,CR615606,CR618922,CR623951,CR624340,DB456387,U66914,U75696,U75697 AAC08351,NP_003874,AAC08352,AAC26509,EAW61915,EAW61916,EAW61917,EAW61918,AAB87752,AAC98927,AAH00614,AAC52038,AAB88240,AAB88241,O15379,Q9H368,ABM82842,ABM86027 Hs.519632 GDB:9864228 HD3|RPD3|RPD3-2 protein-coding 1316832 HDAC4 histone deacetylase 4 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. 1580863 10523670,12711221,18227124,17975112,17636017,17610967,17383980,17373667,17360518,17179159,16922677,16767219,16528103,16415175,16166628,16051668,16033423,15829968,15537544,15467736,15324660,15205465,15194749,15184363,15138260,15075374,12943985,12709441,12668657,12590135,12477932,12421765,12242305,12032081,11929873,11804585,11792813,11568182,11509672,11504882,11486037,11474199,11470791,11466315,11463856,11451954,11114197,11114188,11081517,10958686,10944117,10898795,10869435,10825153,10487761,10220385,10206986,9179496,9150131,9139815,9110174,8619474,12015313,10640275,10748098,14668799,15778465,11022042,15619633 9759 NM_006037,AC017028,AC062017,CH471063,AB006626,AF070607,AF132607,AI199675,AI654062,BC039904,BQ576173,CR607186,CR625452 NP_006028,AAX93070,AAX93254,EAW71165,EAW71166,BAA22957,AAD29046,AAH39904,P56524,Q53SB4,Q53SM2,Q86YH7 Hs.20516,Hs.688314 GDB:11500432 HA6116|HD4|HDAC-A|HDACA|KIAA0288 protein-coding 1604649 HDAC5 histone deacetylase 5 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. 12711221,10220385,10869435,18288090,18218981,18184930,17975112,16236793,16221676,15590418,15491607,15489334,15194749,15146197,14702039,12626519,12477932,12354939,12242305,12168954,12019172,11929873,11509672,11114197,11081517,11018260,10898795,9628581,9610721,12015313,10640275,11931768,11804585,10748098,12150997,15467736,11567998,12896970,14668799,15367659,15060175,11022042,11641275,11466315,15138260,15184363,15619633,15829968 10014 NM_001015053,NM_005474,AC023855,BK000028,CH471178,AB011172,AB177853,AF039691,AF132608,AK027734,AK075095,AK093150,BC011260,BC013140,BC038423,BC041914,BC051824,BM564861,BM998071,CN290533 NP_001015053,NP_005465,DAA00017,EAW51633,EAW51634,BAA25526,BAD66831,AAC18040,AAD29047,BAB55329,AAH13140,AAH51824,Q5W9G6,Q96K29,Q9UQL6 Hs.438782 GDB:9954884 FLJ90614|HD5|NY-CO-9 protein-coding 1351463 HDAC6 histone deacetylase 6 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. 1580863 12620231,11861901,11948178,18079183,17846173,17643370,17389687,16964243,16738306,16192271,16148047,15937340,15916966,15806142,15501975,15469820,15467736,15347674,15302935,15102857,14743216,14702039,14670976,12792815,12477932,12391164,12354939,12032081,12024216,11689694,11677242,11474198,10898795,10220385,10048485,9150131,9139815,16189514 10013 NM_006044,AF196971,CH471224,AB020708,AF132609,AF174499,AJ011972,AK001543,AK024083,AK095124,AK122954,AK127118,AK131286,AL137696,BC011498,BC013219,BC013737,BC069243,BT006649,CR595700,BC005872 NP_006035,EAW50744,EAW50745,EAW50746,EAW50747,EAW50748,BAA74924,AAD29048,AAF36540,CAA09893,BAC86838,CAB70878,AAH05872,AAH11498,AAH13737,AAH69243,AAP35295,O94975,Q6NT75,Q6ZSV8,Q7L3E5,Q9BRX7,Q9NSW6,Q9NZS3,Q9UBN7 Hs.6764 GDB:9954883 FLJ16239|HD6|JM21 protein-coding 1349346 HDAC7 histone deacetylase 7 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 708314,1580863 12711221,18339811,17947801,16980613,16860317,16541075,15738054,15623513,15489334,15364908,15324660,15302935,15280364,15166223,14702039,12970571,12753745,12551922,12477932,12239305,11929873,11466315,11262386,10922406,10640276,9373149,8125298,12015313,16189514,15778465 708314 51564 NM_001098416,NM_001098415,NM_016596,NM_015401,AC004466,CH471111,AF239243,AK001032,AK001190,AK024387,AK024469,AK026767,AK027781,AK122588,AK128383,AK225910,AK309547,AL117455,AY302468,AY321367,BC006453,BC020505,BC064840,BT009771,CR615119,DC376749 NP_001091886,NP_001091885,NP_057680,NP_056216,EAW57952,EAW57953,EAW57954,EAW57955,EAW57956,EAW57957,EAW57958,AAF63491,BAA91474,BAA91545,BAB15759,BAB15546,BAB55363,BAC56929,CAB55935,AAQ18232,AAP84704,AAH06453,AAH20505,AAH64840,AAP88773,Q6P1W9,Q6W9G7,Q7Z4K2,Q8WUI4,Q9H5S4 Hs.200063,Hs.687918 GDB:11500440 DKFZP586J0917|FLJ99588|HD7A|HDAC7A protein-coding 1344478 HDAC8 histone deacetylase 8 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. 1580863 12711221,10748112,17786334,17721440,16809764,16681389,15772115,15590418,15477595,14701748,14684825,12509458,12477932,11533236,10926844,10922473,10756090,14578343 55869 AL133500,BX295542,CH471213,AF212246,AF230097,AF245664,AJ277724,AK074326,AY429539,BC050433,CR611822,NM_018486 ABZ92351,NP_060956,EAW71821,EAW71822,EAW71823,EAW71824,AAK14930,AAF73076,AAF73428,CAB90213,AAH50433,Q86VC8,Q9BY41 Hs.310536 GDB:11500437 HDACL1|RPD3 protein-coding 1353912 HDAC9 histone deacetylase 9 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. 1580863 10523670,12711221,17980413,17360565,17081983,16980305,16611996,16399788,15567413,15489334,15194749,14702039,14684825,12853948,12706107,12590135,12477932,12242305,12054582,12032081,11535832,11466315,11022042,10922406,10825153,10655483,10487761,10487760,9872452,9847074,11959865,14506250,15060175,12242670,15711539 9734 NM_178423,NM_014707,NM_178425,NM_058176,NM_058177,AC002088,AC002124,AC002410,AC002433,AC004744,AC004994,CH236948,CH471073,AA405905,AB018287,AF124924,AJ459808,AK095820,AY197371,AY429540,BC111735,BC150328,BC152405,CR749550,AK097178,AY032737,AY032738 NP_848510,NP_055522,NP_848512,NP_478056,NP_478057,AAS07422,AAS07423,AAS07424,AAS07401,AAS07402,AAS07409,AAD15364,AAC78618,EAW93701,EAW93702,EAW93703,EAW93704,EAW93705,EAW93706,EAW93707,EAW93708,EAW93709,EAW93710,BAA34464,AAF04254,CAD30851,BAC04630,AAO27363,AAI11736,AAI50329,AAI52406,CAH18349,Q68D71,Q75N08,Q75N09,Q75N10,Q75N14,Q75N15,Q75N16,Q8N879,Q8N926,Q9UKV0,Q9Y6V1,BAC04971,AAK66821,AAK66822 Hs.196054 GDB:11498985 DKFZp779K1053|HD7|HDAC|HDAC7|HDAC7B|HDAC9B|HDAC9FL|HDRP|KIAA0744|MITR protein-coding 736253 HDC histidine decarboxylase The biogenic amine histamine is an important modulator of numerous physiologic processes, including neurotransmission, gastric acid secretion, and smooth muscle tone. The biosynthesis of histamine from histidine is catalyzed by the enzyme L-histidine decarboxylase (HDC; EC 4.1.1.22). This homodimeric enzyme is a pyridoxal phosphate (PLP)-dependent decarboxylase and is highly specific for its histidine substrate.[supplied by OMIM] 1580863,704404 1487235,17672918,16919600,16849647,16822545,16760908,16344560,16297195,15928846,15167966,14670968,12768436,12679420,12372397,12371609,12020851,11566179,11556524,11411619,11380149,10785554,10350177,10224444,9865502,9654597,8786082,8288622,7851890,2216786,1768863,1425659 3067 NM_002112,AC009753,AC022087,CH471082,D16583,AK027221,BC130527,DA916790,M60445,X54297 NP_002103,EAW77387,BAA04015,AAI30528,AAC41698,CAA38196,P19113 Hs.1481 GDB:128639 MGC163399 2289561 BW440_H protein-coding 1316830 HDDC2 HD domain containing 2 15342556,12477932,10810093 51020 NM_016063,AL121938,CH471051,AF151888,AF529363,BC001671,BC003357,BC061520,BC066332,BE743302,BP257644,CR595765,DB447428 NP_057147,CAI19646,EAW48136,EAW48137,EAW48138,EAW48139,EAW48140,EAW48141,AAD34125,AAQ09597,AAH01671,AAH03357,AAH66332,Q7Z4H3 Hs.32826 C6orf74|CGI-130|MGC87330|NS5ATP2|dJ167O5.2 protein-coding 1606390 HDDC3 HD domain containing 3 16572171,16189514,15489334,14702039,12477932 374659 NM_198527,AC068831,CH471101,AK057584,BC033794,CR625970 NP_940929,EAX02125,EAX02126,AAH33794,Q8N4P3 Hs.349979 MGC45386 protein-coding 735331 HDGF hepatoma-derived growth factor (high-mobility group protein 1-like) This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. This gene was thought initially to be located on chromosome X, however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 7929202,17974029,17487837,17473954,17062679,16344560,15560738,15489334,15146197,15017145,14751852,14702039,14535987,12972397,12477932,11751870,8833162,15870924 3068 NM_004494,NM_001126050,NM_001126051,AL590666,CH471121,AK096411,AK292325,AK315514,AL833592,AU131311,BC018991,CN392158,CN396181,CR593023,CR608806,CR614061,CR626656,D16431,DA207052,DA367806,DR159090,F36780 NP_004485,NP_001119522,NP_001119523,CAI16347,CAI16348,CAI16349,EAW52910,EAW52911,EAW52912,BAF85014,BAG37895,AAH18991,BAA03903,P51858,ABM84332,ABM87723 Hs.506748,Hs.597384 GDB:437554 DKFZp686J1764|FLJ96580|HMG1L2 hepatoma-derived growth factor protein-coding 1606489 HDGF2 hepatoma-derived growth factor-related protein 2 This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. Two alternatively spliced transcript variants encoding slightly different isoforms have been found for this gene. 17353931,16337983,14702039,12975309,12477932,9299445,15797927 84717 NM_032631,AC011498,CH471139,AB208892,AF294267,AK027353,AY358600,BC000755,BC009449,BE745571,BI826321,BI905780,NM_001001520,BM147540,CR590767,CR611041 NP_001001520,NP_116020,EAW69215,EAW69216,BAD92129,AAP97281,AAQ88963,AAH00755,AAH09449,Q59H67,Q7Z4V5,ABM83101,ABM86296 Hs.43071 MGC2641 protein-coding 1344578 HDGFL1 hepatoma derived growth factor-like 1 16344560,14702039 154150 NM_138574,AL033539,CH471087,AK056824,CD358518,DB020205 NP_612641,CAB75688,EAW55436,BAB71292,Q5TGJ6 Hs.629246 PWWP1|dJ309H15.1 pwwp domain containing 1 protein-coding 1347851 HDGFP hepatoma-derived growth factor (high-mobility group protein 1-like) pseudogene 474167 NG_004722,AL109853 pseudo 1606795 HDGFRP3 hepatoma-derived growth factor, related protein 3 10581169,15761153,15489334,15371438,14702039,12477932,10810093,16337983 50810 NM_016073,AC024270,AC103876,CH471188,AB029156,AF110642,AF151900,AK001280,AL109689,BC015483,BC040554,CR596986,CR598906,CR611705 NP_057157,EAW62425,EAW62426,EAW62427,BAA90477,AAM27001,AAD34137,BAA91597,CAB52021,AAH15483,AAH40554,Q9UMB4,Q9Y3E1 Hs.513954 CGI-142|HDGF2 protein-coding 1344399 HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A 1580863 16344560,15489334,12477932,11337467,9373149,8125298,1734713,1284467 8226 CH471074,AA262524,AK223405,AU099056,AU141098,BC012494,BE019082,BG419948,CR607831,CR616592,M86934,NM_012080,AC073583 EAW98746,EAW98747,EAW98748,BAD97125,AAH12494,AAA58622,Q08623,NP_036212 Hs.185910 DXF68S1E|FAM16AX|GS1 protein-coding 1354012 HDHD1BP HDHD family member 1B, pseudogene 9847074,1284467 327658 NG_002612,AC006998 FAM16AY pseudo 1347832 HDHD1CP HDHD family member 1C, pseudogene 1284467 327659 NG_002613,AL589986 FAM16B pseudo 1348609 HDHD2 haloacid dehalogenase-like hydrolase domain containing 2 737633,1580863 16381901,15489336,14702039,12477932,11230166,11076863,9373149,8125298 737633 84064 NM_032124,AC012254,AC051635,CH471096,AK054590,AK226027,AK292098,AL136681,BC011894,BC033031,BC038100,CR533487,CR596274,CR610751,CR626039 NP_115500,EAW62905,EAW62906,EAW62907,EAW62908,BAB70768,BAF84787,CAB66616,AAH11894,AAH33031,AAH38100,CAG38518,Q9H0R4,CAL38357 Hs.465041 3110052N05Rik|DKFZP564D1378 protein-coding 1351910 HDHD3 haloacid dehalogenase-like hydrolase domain containing 3 737633,1580863 16189514,14702039,12477932 737633 81932 NM_031219,AL137066,CH471090,AJ420424,AK097067,BC005048,BC031878,CR602117,CR609038,CR620220,CR590490,CR622772 NP_112496,CAH70098,EAW87375,EAW87376,EAW87377,EAW87378,AAH05048,AAH31878,Q9BSH5 Hs.7739 2810435D12Rik|C9orf158|MGC12904 protein-coding 732166 HDLBP high density lipoprotein binding protein (vigilin) High density lipoprotein-binding protein, also known as vigilin, is a 110-kD protein that specifically binds HDL molecules and may function in the removal of excess cellular cholesterol.[supplied by OMIM] 1580863 10657246,9409201,8681952,8605996,8477745,8390966,8168838,3034894,1318310,17353931,17081983,15723802,15592455,15489334,15302935,15231748,15109574,14702039,14500828,12543931,12488461,12477932,12107412,11284697 3069 NM_005336,NM_203346,AC104841,CH471063,CQ834792,X92544,X92545,AF116718,AK026138,AK092755,AK127833,AK131375,AL701577,BC001179,BC007961,BC009422,BC014305,BC021817,BC113120,BG476584,BG720303,BG769363,BX647759,CD672674,M64098,BX648235,BC038965,BC058826 NP_005327,NP_976221,AAY14717,EAW71253,EAW71254,EAW71255,EAW71256,CAH05611,AAF71138,BAC87153,BAD18526,AAH01179,AAH14305,AAI13121,AAA35962,Q00341,Q2HJC8,Q53QU2,Q5HYC5,Q6ZN49,Q6ZS03,Q96CF6,Q9P1C0,CAI46262,ABM82813,ABW03453 Hs.471851 GDB:133791 FLJ16432|HBP|PRO2900|VGL lipoprotein-binding protein protein-coding 1349697 HDLCQ1 high density lipoprotein cholesterol level QTL 1 11743583 192144 1348226 HDX highly divergent homeobox 14702039,12477932 139324 NM_144657,AL022160,AL035552,AL450471,CH471104,AK055240,AK290050,BC101720,BC101722,BX538112,BX649166 NP_653258,CAI42095,EAW98572,EAW98573,EAW98574,BAB70886,BAF82739,AAI01721,AAI01723,CAD98024,Q7Z353 Hs.559546 CXorf43|D030011N01Rik|FLJ30678|MGC126769|MGC126771 protein-coding 1605668 HEATR1 HEAT repeat containing 1 15231747,17353931,16710414,15146197,15028280,14702039,12477932,12429849,10737800 55127 AL359921,NM_018072,AX067150,CH471098,AK001221,AK001857,AK095692,AK098212,AK125663,AL599555,BC011983,BC035302,BC062442,BC065205,BC130000,BC150614,BQ376007,BU102172,CK002719,CN357968,CR626198 CAI13775,CAI13776,CAI13777,NP_060542,CAC26776,EAW70060,EAW70061,EAW70062,EAW70063,BAA91564,BAC05261,AAH11983,AAH62442,AAH65205,AAI30001,AAI50615,Q5T3Q7,Q6P664,Q8N7L7,Q96ES5,Q9H583 Hs.708114 BAP28|FLJ10359|MGC72083|RP11-385F5.3 protein-coding 1606283 HEATR2 HEAT repeat containing 2 17353931,16341674,15489334,14702039,12477932,9373149,8125298 54919 NM_017802,AC144411,CH236965,CH471144,AK000404,AK054595,AK056233,AK096700,AK098430,AK225507,AL832914,BC010850,BC047240,BC072425,BC094840,BM743055,CB238804 NP_060272,EAW87168,EAW87169,EAW87170,EAW87171,EAW87172,EAW87173,BAA91142,CAH10624,AAH10850,AAH47240,Q86Y56 Hs.535896 FLJ20397|FLJ25564|FLJ31671|FLJ39381 protein-coding 1602884 HEATR3 HEAT repeat containing 3 15489334,14702039,12477932 55027 NM_182922,AC007610,CH471092,AF462442,AK000725,AK289949,BC014415,BC018730,BC033077 NP_891552,EAW82743,EAW82744,EAW82745,AAP97710,BAA91342,BAF82638,AAH14415,AAH18730,AAH33077,Q7Z4Q2 Hs.313917 FLJ20718 protein-coding 1602622 HEATR4 HEAT repeat containing 4 15489334,14702039,12477932 399671 NM_203309,AC005225,AC005280,CH471061,AK093515,BC047590 NP_976054,EAW81116,EAW81117,AAH47590,Q86WZ0 Hs.660774 MGC48595 protein-coding 1347266 HEATR5A HEAT repeat containing 5A 14702039,12477932,11181995,10718198 25938 CH471078,AB037737,AK000343,AK023789,AK092400,AK092933,AL117511,BC045764,BC062720,BC063867,CR749444,NM_015473,AL136418,AL139353 EAW65947,EAW65948,EAW65949,BAA92554,BAA91098,BAB14680,CAB55971,AAH45764,AAH62720,AAH63867,CAH18282,Q86XA9,NP_056288 Hs.370299 C14orf125|DKFZp781E083|MGC72028 protein-coding 1604000 HEATR5B HEAT repeat containing 5B 14702039,10718198 54497 BX648805,CR618236,NM_019024,AC007404,AC007899,CH471053,AB037835,AK001513,AK026928,AK096637,AL832880,AV759566,BX538008 CAD97959,Q9P2D3,NP_061897,EAX00412,EAX00413,BAA92652,BAA91733 Hs.591564 KIAA1414 protein-coding 1606785 HEATR6 HEAT repeat containing 6 16344560,12755490,12477932,14743216 63897 NM_022070,AC005702,AC025048,CH471109,AF349752,AK025740,AK026070,AK127708,BC119771,BC119813,BX640819,BX640831,CR627418,DA375099 NP_071353,EAW94369,EAW94370,AAL83912,BAB15229,BAB15348,AAI19772,AAI19814,CAE45895,CAE45906,CAH10506,Q0VD96,Q6AI08 Hs.591183 ABC1|DKFZp686D22141|FLJ22087|MGC148096 protein-coding 1312101 HEBP1 heme binding protein 1 The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. 10640688,15623572,15489334,12477932,17237393,12413491,8889548 50865 AC007688,CH471094,AA699304,AF117615,AF167473,AW452041,BC016277,NM_015987,BI550915,BT007294,CF126276,CR613893,CR621039 NP_057071,EAW96295,EAW96296,AAD32098,AAF89618,AAH16277,AAP35958,Q9NRV9,ABM83264,ABM86469 Hs.642618 GDB:11504419 HBP|HEBP protein-coding 1323071 HEBP2 heme binding protein 2 17098234,16189514,15489334,14574404,12477932,11827465,10640688,2018407 23593 NM_014320,AL031003,AL391669,CH471051,AF117616,AF411610,AK057928,AY427823,BC008205,BC010290,BC016806,BC016807,BC093037,BF974311,CR602643,CR614177 NP_055135,CAI20538,CAI20539,EAW47917,AAD32099,AAL07394,AAR88624,AAH08205,AAH10290,AAH16806,AAH16807,AAH93037,Q05DB4,Q9Y5Z4 Hs.486589 GDB:11510554 C6ORF34B|C6orf34|KIAA1244|PP23|RP3-422G23.1|SOUL protein-coding 1312483 HECA headcase homolog (Drosophila) This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. 1580863 11696983,16525680,15489334,14574404,12477932 51696 NM_016217,AB033496,AL031772,AL117651,CH471051,AB033492,AJ420550,BC070068 NP_057301,BAA85333,CAB94782,EAW47901,BAA85322,AAH70068,Q9UBI9 Hs.197644 HDC|HDCL|HHDC|dJ225E12.1 protein-coding 1350415 HECTD1 HECT domain containing 1 1580863 16344560,15489334,15324660,14702039,12477932,12421765,10574461 25831 AL121808,AL136418,CH471078,AB032957,AK024847,AK095634,AK125788,AL110222,AY254380,AY739714,BC006237,BC011658,NM_015382,BC063686,BC072441,BC083494,CR618282,DA440215,DA818448 NP_056197,EAW65950,EAW65951,EAW65952,BAA86445,CAB53681,AAP13073,AAW65983,AAH06237,AAH11658,AAH63686,AAH83494,Q2KQ74,Q5XJ19,Q9BRJ0,Q9ULT8 Hs.708017 FLJ38315|KIAA1131 protein-coding 1313620 HECTD2 HECT domain containing 2 15489334,15164054,14702039,12477932,9110174,8619474 143279 AF131793,AK094625,AK122629,AL713675,AL832073,BC036487,BC040187,BX537856,NM_173497,NM_182765,AC023902,AL161798,CH471066 EAW50110,EAW50111,BAC04388,CAD28480,CAH10405,AAH40187,Q5U5R9,Q5VZ98,Q69YR7,Q8N1X7,NP_775768,NP_877497,CAH70050,CAH70052,CAH70053,EAW50109 Hs.656960 FLJ16050 protein-coding 1606229 HECTD3 HECT domain containing 3 18194665,16710414,16344560,15489334,14702039,12665801,12477932,8889549,8889548 79654 BQ215795,CA314393,CR618738,DA332198,NM_024602,NG_007122,AL359473,CH471059,AA001245,AK056545,AK056873,AK091583,AK096462,AW170440,BC012829,BC019105,BC126352,BC130470 Q5T447,NP_078878,CAI16437,CAI16438,EAX07009,EAX07010,AAH19105,AAI26353,AAI30471 Hs.525084 FLJ21156|FLJ31983|MGC161630|RP11-69J16.1 protein-coding 1352203 HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1580863 14702039,14684739,12690205,12168954,9205841 23072 NM_015052,AC004455,AC004692,AC005537,AC006365,CH236951,CH471073,AB002320,AB048365,AK022679,AK090799,AL079731,AL536075,BC151227,CR594355 NP_055867,EAL24007,EAW94158,EAW94159,EAW94160,BAA20780,BAB13352,AAI51228,Q76N89 Hs.164453 KIAA0322|NEDL1 protein-coding 1349400 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 15489334,12890487,12477932,10718198 57520 NM_020760,AC020571,AC068544,AC073905,AC074090,AC093379,CH471063,AB037722,AL390186,BC117194,BC117198,CR749424 NP_065811,EAW70123,BAA92539,CAB99103,AAI17195,AAI17199,CAH18262,Q9P2P5 Hs.654742 DKFZp686M17164|NEDL2 protein-coding 1603204 HEG1 HEG homolog 1 (zebrafish) 16303743,14680629,12477932,10574462 57493 NM_020733,AC026342,AC092983,AC117488,AB033063,AF173887,AK074987,BC004539,BC014053,BC047661,DR003209 Q7Z2S9,Q9ULI3,NP_065784,BAA86551,AAQ13634,BAC11336,AAH04539 Hs.477420 HEG|KIAA1237|MST112|MSTP112 protein-coding 1605893 HEL308 DNA helicase HEL308 HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM] 18270339,16344560,12794064,12477932,11751861 113510 AC096768,CH471057,AF436845,AK126255,AK128665,AL512702,BC011863,BC015428,BC065814,BC095473,NM_133636,BC111502,CK905810,DB081240 NP_598375,EAX05934,EAX05935,EAX05936,AAL85274,BAC86506,BAC87559,CAH56359,AAH11863,AAH15428,AAH65814,AAH95473,Q8TDG4,AAI41525 Hs.480101 MGC20604 protein-coding 1344471 HELB helicase (DNA) B The protein encoded by this gene is a DNA helicase. A dominant-negative mutant of this protein blocks chromosomal DNA replication and suggests that its function is required for S phase entry. 1580863 12181327,12477932,11557815,8889549 92797 NM_033647,AC078889,CH471054,AA070301,AF319995,AK290894,BC037946 NP_387467,EAW97165,EAW97166,EAW97167,AAM73554,BAF83583,AAH37946,Q4G0T2,Q8NG08,Q9H7L5,AAI48593,AAI57020 Hs.505941 GDB:11510840 protein-coding 1346644 HELLS helicase, lymphoid-specific This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 17967891,15489334,15305370,15164054,15105378,14702039,12880961,12477932,10910076,9878251,9110174,8889549,8619474 3070 NM_018063,AL138759,CH471066,AB074174,AB102716,AB102717,AB102718,AB102719,AB102720,AB102721,AB102722,AB102723,AB113248,AB113249,AF155827,AK001201,AK022928,AY007108,BC015477,BC029381,BC030963,BC031004,BC068440,BC105606,BC111789,BX538033 NP_060533,EAW50026,EAW50027,EAW50028,EAW50029,EAW50030,EAW50031,EAW50032,EAW50033,EAW50034,EAW50035,EAW50036,EAW50037,EAW50038,BAE45737,BAD10844,BAD10845,BAD10846,BAD10847,BAD10848,BAD10849,BAD10850,BAD10851,BAD24804,BAD24805,AAF82262,BAA91550,AAG01987,AAH15477,AAH29381,AAH30963,AAH31004,AAI05607,CAD97978,Q0VGL2,Q5W0M3,Q6I7N8,Q76H75,Q76H82,Q9NRZ9,Q9NW36,AAI46309 Hs.655830 GDB:9862988 FLJ10339|LSH|Nbla10143|PASG|SMARCA6 protein-coding 2292703 HELT HES/HEY-like transcription factor 16644143,15375612,14764602 391723 NM_001029887,AC093824,CH471056 NP_001025058,EAX04657,EAX04658,AAI60136 Hs.531242 HCM1228|HESL|Mgn protein-coding 1316013 HELZ helicase with zinc finger HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM] 1580863 15342556,15302935,15235609,12691822,12477932,10471385,7584044,12615363 9931 NM_014877,AC005544,AC007448,CH471099,AA885317,AI271466,AL110161,AL832149,BC056895,BC094881,BC130582,BP353830,D29677 NP_055692,EAW89023,EAW89024,AAH56895,AAH94881,AAI30583,BAA06147,P42694,Q504Q7,Q6PGP6 Hs.370140,Hs.569824,Hs.596366 GDB:9784473 DHRC|DKFZp586G1924|DRHC|HUMORF5|KIAA0054|MGC163454 helicase with zinc finger domain protein-coding 1351335 HEMGN hemogen 1580863 11483580,11404085,17671716,16437149,15920494,15489334,15332117,15164053,14730214,14648837,12477932 55363 NM_018437,NM_197978,AL354726,AL499604,CH471105,AF116617,AF228713,AF306681,AF306682,AF306683,AF322875,AK292441,AL833094,AY244805,AY255672,BC048324,BG571634,BG717036 NP_060907,NP_932095,CAI12808,EAW58861,EAW58862,EAW58863,AAF71041,AAF67133,AAK26295,BAF85130,AAP75762,AAP81221,AAH48324,Q9BXL5 Hs.176626 GDB:11508399 EDAG|EDAG-1 protein-coding 1343848 HEMK1 HemK methyltransferase family member 1 1580863 15489334,12477932,10690633 51409 NM_016173,AC096920,AL137466,CH471055,AF131220,AF172244,AK025973,AK124369,BC000781,BX537562,CR600760 NP_057257,EAW65125,EAW65126,AAD26417,AAD51328,AAH00781,Q9Y5R4,ABM83079,ABM83084,ABM86279 Hs.517987,Hs.599362 FLJ22320|HEMK|MTQ1 protein-coding 1605560 HEPACAM hepatocyte cell adhesion molecule 18082421,16344560,15917256,15885354,12477932,12971969 220296 AP003501,CH471065,AK098396,AK122595,AL834419,NM_152722,AY047587,BC037810,BC104831,BC113562,DA239226 NP_689935,EAW67614,EAW67615,EAW67616,BAC05297,BAC85486,CAD39081,AAQ93018,AAI04832,AAI13563,Q14CZ8 Hs.159863 FLJ25530 protein-coding 734284 HEPH hephaestin The protein encoded by this gene is similar to an iron transport protein found in mouse. The mouse protein is similar to ceruloplasmin, a serum multi-copper ferroxidase, and is thought to be a membrane-bound protein responsible for transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system. In mouse, defects in this gene can lead to severe microcytic anemia. Two transcript variants encoding different isoforms have been described for this gene. 17486601,16274220,16137899,15489334,14702039,12975309,12949720,12477932,12168954,11932491,11891802,10843811,9988272,9734811 9843 NM_138737,NM_014799,AL030998,AL157698,CH471132,DQ496100,AB014598,AF075034,AF148860,AJ296162,AK022472,AY358990,BC011561 ABM84554,ABW03479,NP_620074,NP_055614,CAI42809,CAI42810,EAX05384,EAX05385,EAX05386,EAX05387,EAX05388,ABF47089,BAA31673,AAK08131,CAC35365,AAQ89349,AAH11561,Q5JUU0,Q5JUU1,Q5JZ07,Q5JZ08,Q9BQS7 Hs.31720 GDB:9958544 CPL|KIAA0698 protein-coding 1345614 HEPHL1 hephaestin-like 1 341208 NM_001098672,AP002795,AP003966,AB231719,BX641008,EG328157 NP_001092142,BAE46880,CAE46009,Q3C1W7,Q6MZM0 Hs.669645 DKFZp686F22190 protein-coding 1314942 HERC1 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 The protein encoded by this gene stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein is throught to be involved in membrane transport processes 1580863 8861955,16344560,15642342,14960311,14702039,12650930,12477932,10516438,9949213,9233772,9110174,8889548,8619474,17353931 8925 AC015914,AC073167,AC118274,CH471082,AF131824,AK091624,AK226162,AL041045,AW576595,AY030081,BC040929,BM727478,BQ216911,BQ883457,DB117652,U50078,NM_003922 NP_003913,EAW77654,EAW77655,EAW77656,AAH40929,AAD12586,Q15751 Hs.210385 GDB:9957892 p532|p619 protein-coding 1317498 HERC2 hect domain and RLD 2 1580863 9949213,18483556,18438405,18252222,18252221,18172690,17952075,17081983,15203218,15146197,14702039,12477932,11752456,10737800,10720573,10441737,9205841,17353931 8924 NM_004667,AC091304,AC126332,AC135329,AF224243,AF224245,AF224249,AF224251,AF224252,AF224253,AF224255,AF224257,AF225401,AF225404,AF225407,AF225409,AF071172,AI820017,AK122977,AK125229,AL834183,AV692570,AW504156,AW897649,BC015486,BC142951,BC148318,BF332492,BQ059143,BX440995,BX451582,CD619122,CN302846,BC045544 NP_004658,AAO27473,AAO27474,AAO27475,AAO27476,AAO27477,AAO27478,AAO27479,AAO27480,AAO27481,AAO27482,AAO27483,AAO27484,AAD08657,BAC86091,CAD38880,AAI48319,O95714,Q6ZUX6,Q8ND39 Hs.434890,Hs.610412 GDB:9785788 D15F37S1|DKFZp547P028|KIAA0393|SHEP1|jdf2|p528 protein-coding 1348344 HERC2P1 hect domain and RLD 2 pseudogene 1 9730612 8923 GDB:9957889 1348486 HERC2P2 hect domain and RLD 2 pseudogene 2 14702039,12477932,9949213,9730612,9205841,1608955 400322 NR_002824,XR_042157,AC091565,AC100757,AB002391,AF041080,AK095014,AL512684,BC128547,CR749409 BAA20846,AAI28548,CAH18252,O15093,Q68DG8 Hs.458334,Hs.531509 GDB:9957886 D15F37S3|MN7 pseudo 1351943 HERC2P3 hect domain and RLD 2 pseudogene 3 9949213,9730612,1608955 8921 AF041081 GDB:9957884 D15F37S4 pseudo 1343541 HERC2P4 hect domain and RLD 2 pseudogene 4 12477932,9730612 440362 NR_002827,AC133485,BC038215 AAH38215,Q6PIB2 Hs.531536 GDB:9957882 D16F37S5 pseudo 1346601 HERC2P5 hect domain and RLD 2 pseudogene 5 9730612 388254 NG_005349,AC137761,AC138907 GDB:9957880 D16F37S6 pseudo 1348261 HERC2P6 hect domain and RLD 2 pseudogene 6 10417280,9949213 8918 NG_005348,AC100756,AF140516,AF140517 GDB:9957878 pseudo 1350245 HERC2P7 hect domain and RLD 2 pseudogene 7 9949213 8917 NG_005644,AC091304,AF071178,AK125649,AV706733 Hs.146211,Hs.696024 GDB:9957876 pseudo 1351757 HERC3 hect domain and RLD 3 HERC3 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM] 1580863 15676274,12477932,11163799,10702688,7584028,7584026 8916 NM_014606,AC098582,AC108065,CH471057,AK289990,BC038960,D25215 NP_055421,AAY41038,EAX06024,BAF82679,AAH38960,BAA04945,Q15034,Q4W5H5,Q8IXX3,AAI66672 Hs.35804 GDB:9784372 KIAA0032 protein-coding 1322175 HERC4 hect domain and RLD 4 HERC4 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM] 737633,1580863 15676274,15489334,15164054,14702039,12477932,10997877 737633 26091 NM_022079,AC024258,AL133551,AL356741,CH471083,AB046813,AK021844,AK026808,AK027835,AK292809,AL096715,AY221963,AY650032,AY650033,AY650034,BC015043,BC018114,BC039465,BC039600,BX537563,CR591553,DB459623,NM_015601 NP_056416,NP_071362,CAI16031,CAI16032,CAH74146,CAH74148,EAW54260,EAW54261,EAW54262,EAW54263,EAW54264,EAW54265,EAW54266,BAB13419,BAF85498,CAB46371,AAO65480,AAV66578,AAV66579,AAV66580,AAH39600,Q5GLZ8,Q5VXS9,Q9Y4U2 Hs.51891 DKFZP564G092|KIAA1593 protein-coding 1346007 HERC5 hect domain and RLD 5 This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The gene lies in a cluster of HERC family genes on chromosome 4. 1580863 10581175,17471231,16884686,16815975,16407192,15676274,15331633,14702039,11752456 51191 NM_016323,AC083829,CH471057,AB027289,AK093155,AV657231,AY337518,BC140716 NP_057407,EAX06020,BAA88519,AAR00320,AAI40717,Q69G20,Q9UII4 Hs.26663 CEB1|CEBP1 protein-coding 1348683 HERC6 hect domain and RLD 6 HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM] 1580863 12477932,15676274,15489334,14702039,9373149,8125298 55008 NM_017912,AC083829,CH471057,AF336798,AK000644,AK092403,AK097168,AK225506,AL832670,AL833664,AY653201,AY653202,AY653203,BC035775,BC042047,BX647121 NP_060382,EAX06018,EAX06019,AAQ14893,BAA91303,BAC03879,CAI46151,AAV66895,AAV66896,AAV66897,AAH35775,AAH42047,CAI46056,Q8IVU3 Hs.529317 FLJ20637 protein-coding 733943 HERPUD1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. The full-length nature of all transcript variants has not been determined. 704470,1580863 14550564,12477932,12370023,12153396,11799129,11112790,9373149,9110174,8619474,8125298,7584026,10708769,10922362,18307982,18042451,17420289,17020760,16940180,16713569,16289116,16189514,15489334 704470 9709 NM_014685,NM_001010989,NM_001010990,AB034990,AC012181,CH471092,AB034989,AF055001,AF055003,AF217990,AK223233,AK291565,AK292088,BC000086,BC008320,BC009739,BC032673,BG685245,BI520043,CD358537,CR457116,CR625367,D14695,DQ837586 NP_055500,NP_001010989,NP_001010990,BAB19010,EAW82892,EAW82893,EAW82894,BAB07891,AAC09355,AAC09357,AAG17233,BAD96953,BAF84254,BAF84777,AAH00086,AAH08320,AAH09739,AAH32673,CAG33397,BAA03521,ABI18163,Q15011,Q53FP9,Q6IAN8,Q9HBR2,ABM82793,ABW03443 Hs.146393 GDB:9784338 HERP|KIAA0025|Mif1|SUP protein-coding 1605640 HERPUD2 HERPUD family member 2 16344560,15489334,14702039,12477932 64224 NM_022373,XM_001717741,XM_001718593,XM_001716505,XM_001717961,AC018647,CH236951,CH471073,AK025966,AK055708,AK315685,BC005091,BC020264,DA282706,DA778088 NP_071768,XP_001717793,XP_001718645,XP_001716557,XP_001718013,EAL23973,EAW94050,EAW94051,EAW94052,EAW94053,EAW94054,EAW94055,BAB15300,BAG38050,AAH05091,AAH20264,Q9BSE4 Hs.706966 FLJ22313|FLJ31032 protein-coding 1606632 HERV-FRD HERV-FRD provirus ancestral Env polyprotein Human endogenous retroviruses (HERVs) make up approximately 8% of the human genome. Although most HERVs are nonfunctional, the HERV-W (ERVWE1; MIM 604659) and HERV-FRD envelope (env) proteins can induce cell-cell fusion when expressed in cells possessing appropriate receptors (Blaise et al., 2003 [PubMed 14557543]).[supplied by OMIM] 18215254,18077339,16714059,16303743,16140326,15489334,14702039,14694139,14574404,14557543,12975309,12970426,12477932 405754 NM_207582,AL136139,CQ890942,AK075092,AK123938,AY358244,BC068585 NP_997465,CAH68778,BAC11396,BAC85731,AAQ88611,AAH68585,P60508,Q8NC12 Hs.631996 FLJ41944|FLJ90611|GLLL6191|MGC87585|UNQ6191 protein-coding 1605434 HES1 hairy and enhancer of split 1, (Drosophila) This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. 7906273,8020957,17822320,17388915,17301032,17072841,16894395,16365048,16322473,16253247,16214363,15563463,15536134,15492808,15156153,14722248,14702039,12972610,12535671,12477932,12406868,11756408,11748221,11486045,11238932,10851137,9745030,9389649,8687460,15546612 3280 NM_005524,AC080129,CH471052,L19314,AF264785,AK000415,BC005178,BC039152,CR541843,CR609648,CR610974,CR616000 NP_005515,EAW78058,AAA65220,AAF73060,BAA91149,AAH05178,AAH39152,CAG46641,Q14469,Q6FHB2,Q8IXV0,Q9BS99,AAI56517,ABM82254,ABM84280,ABM87672 Hs.250666 FLJ20408|HES-1|HHL|HRY protein-coding 736308 HES2 hairy and enhancer of split 2 (Drosophila) 1580863 16710414,15489334,15254753,14702039,12477932,9570950 54626 NM_019089,AL031848,CH471130,AK023754,AK091122,BC012091,BC132698,BC142687 NP_061962,CAB46198,CAB46199,EAW71533,EAW71534,AAH12091,AAI32699,AAI42688,Q9Y543 Hs.118727 protein-coding 1604433 HES3 hairy and enhancer of split 3 (Drosophila) 18162467,16710414,15254753,15146197 390992 NM_001024598,AL031847,CH471130,CN413592,CX755241 NP_001019769,CAI19439,EAW71525,Q5TGS1,AAI56116,AAI56913 Hs.532677 protein-coding 1354442 HES4 hairy and enhancer of split 4 (Drosophila) 1580863 16710414,15489334,15254753,12477932,11260262 57801 AL645608,CH471183,AB048791,NM_021170,BC012351 NP_066993,CAI15572,EAW56296,BAB13510,AAH12351,Q9HCC6,ABM86416 Hs.154029 protein-coding 1353774 HES5 hairy and enhancer of split 5 (Drosophila) 17388915,17093926,17072841,16710414,16365048,16214363,15254753,15156153,14757642,12477932,7836401,14764602 388585 NM_001010926,CH471183,BC087840,DQ272660 NP_001010926,EAW56096,AAH87840,ABB83829,Q5M8T3,Q5TA89 Hs.57971 protein-coding 1323828 HES6 hairy and enhancer of split 6 (Drosophila) HES6 belongs to the basic helix-loop-helix (bHLH) family of transcription factors, which regulate several key developmental pathways (Gao et al., 2001 [PubMed 11551980]).[supplied by OMIM] 1580863 10851137,17826772,17301032,17300753,15896295,15815621,15489334,14702039,12972610,12957362,12477932,11551980,11044617,1155198 55502 NM_018645,AC016757,CH471063,CS061206,AB035179,AF260237,AK075040,AK293111,BC007939,BC020305,CR610232 NP_061115,AAY24337,EAW71149,EAW71150,EAW71151,EAW71152,CAI79369,BAA96082,AAK51634,BAC11368,BAF85800,AAH07939,Q96HZ4 Hs.42949 GDB:11506125 protein-coding 1314231 HES7 hairy and enhancer of split 7 (Drosophila) In mouse, Hes7 expression is associated with somitogenesis and is controlled by Notch (see MIM 190198) signaling (Bessho et al., 2001 [PubMed 11260262]).[supplied by OMIM] 1580863 11260262,17081983 84667 NM_032580,AC129492,CH471108,AB049064,BC039887,BU620502,CA432402 NP_115969,EAW90092,BAB39525,Q9BYE0,AAI56908 Hs.434828 GDB:11500442 protein-coding 1353119 HESX1 HESX homeobox 1 This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. 1580863,1601424 9620767,17931718,17587179,16940453,16424673,15489334,14714741,14646405,14561704,14557462,12519827,12477932,12424431,12063185,11748154,11731482,11283314,11136712,9373136,8696006,7876132,17148560 1601424 8820 NM_003865,AC093928,AF059734,CH471055,U65437,AI652412,BC069515,BC093979,BC112089 NP_003856,AAC24523,EAW65333,EAW65334,AAB39561,AAH69515,AAH93979,AAI12090,Q9UBX0,ABZ92199 Hs.171980 GDB:9838628 ANF|MGC138294|RPX homeo box (expressed in es cells) 1 protein-coding 1352150 HEXA hexosaminidase A (alpha polypeptide) Hexosaminidase A is the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). 1580863 6230359,18217416,16776631,16710745,16698036,16212960,16088929,15953731,15489334,15345116,15342556,14727180,14648242,14566483,12413610,12180151,11180612,11170098,10571007,9603435,9401008,9375850,9373149,9338583,9272736,9222766,9217013,9150157,9090523,8757036,8673609,8652542,8634145,8581357,8490625,8445615,8328470,8125298,12477932,7951261,7902672,7898712,7887427,7837766,7717398,3754980,3375249,3362213,3013851,2973311,2971395,2970528,2965147,2952641,2933746,2848800,2837213,2531748,2522679,2522660,2278539,2220821,2144098,2141777,2140574,2137287,1996872,1837283,1833974,1832817,1830584,1829032,1827945,1825792,1825014,1533633,1532289,1483696,1384323,1318511,1307230,1302612,1301938,1301190,1301189,1054503,16189514 3073 NM_000520,AC009690,CH471082,M16411,M16424,S62076,AK222502,BC001138,BC018927,BC021030,BC034424,BC084537,BP356349,BX537989,CR591651,CR594225,CR598860,CR599467,CR599909,CR600893,CR603314,CR612015,CR616042,CR616988,CR622279,CR622531,CR622580,CR622636,CR623191,CR625480,CR625539,CR626315,CR627386,M13520,S76980 NP_000511,EAW77902,AAB00965,AAD13932,BAD96222,AAH01138,AAH18927,AAH21030,AAH84537,CAH10482,AAA51827,AAB33748,P06865,Q53HS8,Q6AI32,Q6PJ76,Q9BVJ8,ABM83622,ABW03529 Hs.604479,Hs.709495 GDB:120040 MGC99608|TSD protein-coding 1316898 HEXB hexosaminidase B (beta polypeptide) Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). 1599422,1599424,1580863 11447134,8663217,6230359,18217416,18180457,17251047,16710745,16352452,15953731,15489334,15485660,15459180,14702039,12754519,12706724,12662933,12477932,12413610,10591618,10571007,9888387,9856491,1531140,1487253,1386607,1054503,16189514,9694901,9401004,8950198,8673609,8634145,8357844,8106452,8045559,7633435,7626071,7557963,7299841,7177110,6959123,3013851,2977375,2971395,2971039,2966076,2965147,2964638,2948136,2921040,2579389,2525487,2522450,2170400,2147427,2147027,2139028,1967020,1825792,10982028,1720305 1599422,1599424 3074 AC026405,AC093214,CH471084,M23282,M23294,AF378118,AK122992,AK130002,AK130375,AY643499,BC017378,BT009919,CR591164,CR593680,CR594662,CR595990,CR596988,NM_000521,CR598936,CR601804,CR601840,CR602387,CR602879,CR605235,CR605256,CR605813,CR605818,CR605885,CR606849,CR606930,CR608425,CR609405,CR610802,CR611028,CR611913,CR612759,CR613188,CR613644,CR614304,CR615381,CR618468,CR620268,CR622691,CR624261,CR624982,CR625484,CR626531,CR626674,CR626778,M13519,M19735,M34906 EAW95741,EAW95742,AAA52645,AAM46114,AAV48875,AAH17378,AAP88921,NP_000512,AAA51828,AAA68620,AAA51829,P07686,Q5URX0 Hs.69293 GDB:119308 ENC-1AS protein-coding 1602417 HEXDC hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 16169070,12477932 284004 NM_173620,AC132938,CH471099,AK074405,BC018205,BC035561,CR607308,DN999062 NP_775891,EAW89771,EAW89772,EAW89773,EAW89774,EAW89775,BAB85072,AAH18205,AAH35561,Q8WVB3 Hs.444743 FLJ23825 protein-coding 1606576 HEXIM1 hexamethylene bis-acetamide inducible 1 Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. 14580347,15713661,15941832,12581153,18371977,17937499,17724342,17709395,16382153,16362050,16222702,15994294,15992410,15965233,15940264,15855166,15713662,15201869,15169877,15109492,14702039,12832472,12477932,10737800,9544,16189514,12119119 10614 NM_006460,AC142472,AB021179,AI092623,AK023624,AL521530,AL562001,AW881781,BC006460,BQ777682,BX111838,CA448958,CA946973,CR614564,CR617663,CV810471,DB539383 ABM87157,ABM87602,NP_006451,BAA36166,AAH06460,O94992,ABM84198 Hs.15299,Hs.586945,Hs.634944 CLP1|EDG1|FLJ13562|HIS1|MAQ1 protein-coding 1601726 HEXIM2 hexamthylene bis-acetamide inducible 2 15965233,15334068,15302935,14702039,12832472,12477932,15992410,15713662,15713661 124790 NM_144608,AC138150,CH471178,AK056946,AY598322,BC003531,BC012474,BC025970 NP_653209,EAW51541,EAW51542,BAB71319,AAT06733,AAH03531,AAH12474,AAH25970,Q96MH2 Hs.56382 FLJ32384|L3 protein-coding 735762 HEY1 hairy/enhancer-of-split related with YRPW motif 1 This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. 1334460,1580863 10415358,18239137,17496152,17028039,16344560,16165016,15749835,15684393,15680351,15489334,15342556,15314183,14702039,12548545,12477932,12453432,11486044,11095750,10964718,10860664,10692439,10403790,9373149,8125298,11279181,16189514 1334460 23462 NM_001040708,NM_012258,AC016240,AJ277506,CH471068,AF151522,AF176422,AF232239,AF254637,AF311883,AJ272214,AK074641,AK092437,AK226041,BC001873,BP283540,BT020065,CR598609,CR607416,CR622924,DA561783 NP_001035798,NP_036390,CAB90212,EAW87066,AAD38967,AAD51749,AAF37297,AAL06278,AAG31156,CAB75715,BAC03890,AAH01873,AAV38868,Q8NAM2,Q96PR6,Q9Y5J3 Hs.234434 GDB:9991278 CHF2|HERP2|HESR1|HRT-1|MGC1274|OAF1 protein-coding 1354369 HEY2 hairy/enhancer-of-split related with YRPW motif 2 This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. 1580863 10415358,18239137,16329098,16293227,16189514,16165016,16151017,15680351,15643620,15489334,15389319,14574404,12548545,12535671,12477932,11486045,11486044,11095750,10924525,10860664,10710309,10692439 23493 NM_012259,AL078594,CH471051,AB044755,AF173901,AF232238,AF237949,AF311884,AJ249545,AK289943,BC007707,BI549391,BT020067,BT020068,CR596074 NP_036391,CAB87581,CAI20068,EAW48135,BAA96781,AAF20173,AAF37296,AAF44781,AAG31157,CAB56839,BAF82632,AAH07707,AAV38870,AAV38871,Q5TF93,Q9UBP5 Hs.144287 GDB:9956644 CHF1|GRIDLOCK|GRL|HERP1|HESR2|HRT2|MGC10720 protein-coding 1312805 HEYL hairy/enhancer-of-split related with YRPW motif-like This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. 1580863 10415358,16189514,16165016,15231748,12548545,12477932,11095750,10924525,10860664,8889548 26508 NM_014571,AL035404,CH471059,AF311885,AJ272215,AL541019,BC006087,BM682076 NP_055386,CAI19572,EAX07260,AAG31158,CAB75716,AAH06087,Q9NQ87,ABZ92400 Hs.472566 GDB:9991277 HRT3|MGC12623 protein-coding 1345296 HFE hemochromatosis The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. 1582673,1358657,1582684,1582695,1582697,1582671,1582685,1582687,1582672,1601449,1601452,1601460,1580863 10638746,10085150,18470614,18460494,18452683,18429050,18419350,18403938,18395717,18327584,18325820,18317757,18300942,18284459,18276042,18273820,18263976,18201677,18199861,18194242,18182079,18164971,18079565,18073584,18061976,18061182,18036208,11564085,11545759,11532995,11529872,11500066,11500061,11499833,11495086,11488107,11479183,11478530,11474212,11469076,11454185,11446670,11445256,11436126,11423500,11399207,11394651,11386022,11380589,11358905,11358395,11358357,11332643,11325323,11260010,11257277,11242801,11199371,11168438,16584391,16583477,16537242,16520984,16503999,16468045,16454835,16451136,16433696,16414021,16399493,16393683,16364490,16337066,16324464,16315134,16314188,16306377,16285477,16273299,16225403,16222171,16216474,16210711,16186539,16178952,16174659,16174459,16157826,16140024,16138214,16123136,16113552,16113534,11159767,11151887,11114141,11108765,11096344,11079015,11069625,11057879,11051367,11040018,11027676,11018711,11001625,10791995,10612845,10575540,10431233,10401000,10381492,10194428,10094552,10079302,9869618,9620340,9585606,9548560,9546397,9465039,9462220,9439654,9425935,9371823,18025780,18005180,17976429,17973580,17959863,17956864,17949288,17924859,17916170,17895769,17878720,17847004,17828789,17767550,17729389,17724144,17722428,17718867,17710673,17687449,17680648,17661915,17661761,17654685,17650303,17637512,17628213,17626021,17598005,17597476,17589946,17585191,17573946,17565641,17543888,17525682,17474269,17420932,17410459,17401564,17389307,17362299,17313717,17308297,17303462,17299255,17298224,17297430,17284543,17279416,17240320,17235517,17228846,17212677,17210810,17194693,17160266,17160239,17145987,17137171,17135308,17116317,17108759,17107905,17101320,17079357,17067586,17065702,17062032,17061732,17058523,17056630,17047092,17042772,17013646,17011669,17006922,17003003,17001480,16990695,16979952,16968463,16964543,16950433,16936157,16935420,16893896,16878186,16849282,16847405,16841247,16838333,16824219,16806233,16802538,16802007,16755236,16728543,16678024,16672055,16649670,16638105,16615226,16615007,16103673,16102632,16055358,16047841,16043695,16039334,16012706,16011012,16003728,15995871,15991291,15990686,15965644,15956653,15955425,15941956,15941661,15929798,15929796,15914210,15894659,15894495,15885363,15880641,15863667,15863206,15858186,15840699,15834437,15817857,15815212,15802547,15789881,15785438,16105133,11943417,11940510,11939483,11938026,11929045,11904676,11903355,11903354,11901060,11887210,11886966,11886425,11875012,11874997,11869934,11857056,11855561,11840200,11836162,11812557,11809727,11804665,11800564,11788568,11783942,11781701,11774187,11763282,11738096,11730630,11722599,11700156,11686223,11680538,11673657,11579943,14675248,14673107,14671617,14671616,14670915,14667749,14648375,14642607,14641999,14636644,14635204,14633868,14618419,14557859,14503989,14499790,12972035,12972032,12961032,12952143,12948285,12942784,12940442,12923017,12915468,12907432,12902032,12885340,12874382,12870733,12865759,12865278,12851225,12850493,12850485,12846904,12792703,12791037,12783844,12779071,12770794,12763366,12746412,12745279,12737949,12714823,12714263,12714262,12712916,12707938,12707220,12699243,12691865,12681966,12673276,12673077,12667993,12667138,12662406,12656741,12651261,12635863,12624489,12622622,12614226,12601293,12591066,12589228,12586300,12584430,12568299,12557137,12547216,12542741,12542499,12537659,12529348,12514663,12512743,12508966,12508400,12505233,12482402,15780041,15777346,15775751,15763983,15740492,15727249,15710569,15698609,15684872,15673318,15668853,15668490,15654232,15643457,15642540,15637751,15610558,15607698,15581829,15570296,15566515,15546588,15538648,15531451,15528154,15517265,15503019,15498100,15489334,15483651,15477198,15467009,15447900,15389541,15388046,15377292,15363617,15352740,15347835,15338274,15319650,15304122,15304010,15302000,15293136,15287851,15280838,15273174,15266614,15259508,12477932,12464008,12446481,12445428,12445415,12445172,12436244,12429850,12427496,12406023,12394323,12384978,12380399,12377814,12364722,12361551,12241803,12241015,12207823,12198660,12190182,12180078,12148086,12145797,12140659,12117686,12098643,12085358,12077102,12064915,12059121,12045778,12036461,12010659,12003382,12002748,11960577,11960574,11953685,15223008,15222129,15182337,15175819,15151632,15141324,15136693,15121519,15101996,15099342,15075083,15070663,15061375,15060098,15056661,15044462,15042317,15025725,15018631,15017669,15017658,15013567,14996353,14973098,14972004,14966054,14765621,14759258,14752836,14742317,14740507,14729817,14706682,14703689,14703688,9356458,9341868,9326341,9321765,9211748,9162021,9149941,9138148,9122230,9106528,9024376,8896550,8696333,3460331,2307464,1517564,896549,678784 1582673,1358657,1582684,1582695,1582697,1582671,1582685,1582687,1582672,1601449,1601452,1601460 3077 AF144242,AF144243,AF144244,AF144245,AF147392,AF149804,AF150664,AJ249335,AJ249336,AJ249337,AJ249338,AJ250635,AJ298839,AJ298840,AJ404378,AY205604,BC074721,BC117201,BC117203,U60319,AF144241,NM_000410,NM_139004,NM_139003,NM_139009,NM_139007,NM_139008,NM_139010,NM_139011,NM_139006,NG_001335,AF184234,AF204869,AF331065,AF525359,AF525499,CH471087,CS187189,EU523119,U80914,U91328,Y09801,Z92910,AF079407,AF079408,AF079409,AF109385,AF115264,AF115265,AF144238,AF144239,AF144240 Q9BXI5,Q9HC63,Q9HC65,Q9HC66,Q9HC67,Q9HC69,Q9HC71,Q9HC72,Q9TQ79,Q9UK37,Q9UM46,AAG29576,AAG29577,AAG29578,AAG29579,AAG29580,AAG29342,AAG29343,CAC67792,CAC67793,CAC67794,CAC67795,CAC80805,AAO47091,AAH74721,AAI17202,AAI17204,AAC51823,Q30201,Q6B0J5,Q86WL1,Q8MH46,Q96KU6,NP_000401,NP_620573,NP_620572,NP_620578,NP_620576,NP_620577,NP_620579,NP_620580,NP_620575,AAF01222,AAK16502,AAM82608,AAM91950,EAW55516,EAW55518,EAW55519,EAW55520,EAW55521,EAW55522,EAW55523,EAW55524,EAW55525,EAW55526,EAW55527,CAJ42862,ACB21042,AAD00449,AAB82083,CAA70934,CAB07442,AAC62646,AAC62647,AAC62648,AAD52104,AAG29571,AAG29572,AAG29573,AAG29574,EAW55517,AAG29575 Hs.233325 GDB:119309 HFE1|HH|HLA-H|MGC103790|dJ221C16.10.1 protein-coding 1320952 HFE2 hemochromatosis type 2 (juvenile) The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. 1599478 17938254,17869549,17847004,17768121,17339196,17264300,16932966,16344560,16103673,16103117,15998830,15710580,15685557,15611318,15610558,15590393,15489334,15461631,15315789,15254010,15194541,15138164,14982873,14982867,14702039,14647275,12477932,10205270,9465039,9373149,8125298 1599478 148738 BC085604,CR616174,NM_213653,NM_145277,NM_202004,NM_213652,AL138842,AL355505,CH471244,DQ309445,AA479148,AK092682,AK092692,AK096905,AK124273,AK223575,AK290831,AK292742,AK315852,AY372521,BC017926,DB035674 AAH17926,AAH85604,NP_998818,NP_660320,NP_973733,NP_998817,CAI22349,CAI22350,CAI22091,CAI22092,EAW71407,EAW71408,EAW71409,ABC40718,BAC03944,BAC03947,BAC04890,BAC85823,BAF83520,BAF85431,BAF98743,AAR22390,Q53ER4,Q5T605,Q5T606,Q6ZVN8 Hs.632436 GDB:9958540 HFE2A|HJV|JH|MGC23953|RGMC protein-coding 1606438 HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 17286053,14702039,12477932 164045 NM_001017975,AC098691,BX323048,CH471097,AB074274,AB204867,AK094079,AK096330,BC062793,BC130525,BC132823,BX649037,DT932601 NP_001017975,A2PYH4,CAO03501,EAW73116,BAF45466,BAC04281 Hs.454818 FLJ36760|FLJ39011|MER3|MGC163397|RP11-539G11.1|SEC63D1 protein-coding 1318713 HGD homogentisate 1,2-dioxygenase (homogentisate oxidase) Homogentisate 1,2-dioxygenase (HGD) gene mutations are the molecular cause of alkaptonuria, a rare hereditary disorder of the phenylalanine catabolism. The highest expression of HGD is in the prostate, small intestine, colon, and liver. The HGD gene contains 14 exons. Conflicting reports have placed the gene at 3q2, 3q13.3-q21, 3q21-q24, 3q21-q23, or 3q25-q26. 1599472,1580863 8782815,16344560,16085442,15489334,14702039,12872836,12477932,11181995,10876237,10594001,10482952,10340975,10205262,9674916,9630082,9529363,9244427,9154114,9069115,8581831,8252048,8188241 1599472 3081 NM_000187,AC126182,AC133474,AF000573,CH471052,AF045167,AK124291,AK290782,BC020792,BC071757,DA872983,U63008,Z75048 NP_000178,AAC51650,EAW79522,EAW79523,EAW79524,AAC02698,BAF83471,AAH20792,AAH71757,AAB16836,CAA99340,Q8WW71,Q93099 Hs.616526,Hs.702047 GDB:203935 AKU|HGO protein-coding 70837 HGF hepatocyte growth factor (hepapoietin A; scatter factor) Hepatocyte growth factor regulates cell growth, cell motility, and morphogenesis by activating a tyrosine kinase signaling cascade after binding to the proto-oncogenic c-Met receptor. Hepatocyte growth factor is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. Its ability to stimulate mitogenesis, cell motility, and matrix invasion gives it a central role in angiogenesis, tumorogenesis, and tissue regeneration. It is secreted as a single inactive polypeptide and is cleaved by serine proteases into a 69-kDa alpha-chain and 34-kDa beta-chain. A disulfide bond between the alpha and beta chains produces the active, heterodimeric molecule. The protein belongs to the plasminogen subfamily of S1 peptidases but has no detectable protease activity. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. 1580863,704404,1642702,1642762,1642064,1642706,1642704 12821940,12817761,12812389,12792760,12757411,12732844,12713878,12707786,12695295,12694198,12690205,12682635,12645668,12619035,12524084,12493396,12482615,12477932,12456016,12419930,12413766,12393863,12379223,12374695,12372819,12368906,12244174,12233882,12209727,12168776,12163032,12151314,12151078,12124772,12051906,11999653,11994287,11943656,11929792,11928807,11909963,11867177,11839685,17971014,17967179,17942284,17921114,17911637,17907155,17901400,17872495,17765959,17702746,17626784,17625596,17625116,17599773,17597814,17593080,17518673,17464544,17452892,17435158,17384084,17372204,17973092,17322284,17307814,17262819,17244893,17215249,17203235,17178341,17154373,17143015,17099727,17062664,16951184,16902162,16885407,16861928,16859527,16849525,16807517,16790083,16740060,16728464,16723436,16709855,16709175,16684952,16677802,16651617,16648972,16627020,16621453,16505200,16498238,16469801,16403414,16338307,16303761,16279944,16278380,16246197,16216128,16144920,16136515,16102116,16083876,16052207,16039997,16014626,16006475,16000876,15913806,15880501,15875782,15824471,15792801,15781227,15777839,15770726,15760460,15717924,15678502,15659325,15637066,15613483,15608673,15602080,15590419,15550554,15537870,15528455,15525877,15505094,15504940,15504551,15502712,15492846,15489334,15474099,15359093,15334679,15292253,15287857,15250830,15241561,15240510,15239259,15229174,15226629,15203188,15192042,15191880,15172968,15160305,15156160,15153617,15127882,15120936,15112327,15087580,15064106,15059978,15019814,14989981,14983012,14764801,14704632,14699503,14697967,14694016,14688531,14672920,14647442,14626426,14555767,14524531,14519655,14500721,12932865,12918110,12883672,12879228,12875981,12865405,12853948,12847110,12837293,12837287,2531289,15167892,14679171,18319552,18264938,18251163,18234969,18164961,18096875,18091351,18065658,18063891,18059365,18053801,18021988,18003605,17981731,11836782,11830493,11821397,11799124,11781826,11597998,11342433,10962009,10871856,10848592,10725250,10421795,9886295,9817840,9493272,9352114,9314600,8994391,8898205,8889548,8662798,8631970,8603858,8288571,8175137,8157651,8041760,7822318,7608139,7593211,7489981,7487981,3276728,2528952,2524251,2145836,1838014,1837534,1837206,1835383,1832556,1831432,1831266,1826837,1826653,1824873,1720571,1655405,1535333,1531136,1482348,1386343,1334458,1328193,1321034,1280830,16554660,15695515,15161915 1642702,1642762,1642064,1642706,1642704 3082 NM_000601,NM_001010932,NM_001010931,NM_001010933,NM_001010934,AC004960,AY246560,CH236949,CH471091,D90334,M75971,M75983,M75984,AB208900,AK291674,BC022308,BC063485,BC105797,BC130284,BC130286,BM153501,BM971901,BU533235,CR593759,CR600867,L02931,M29145,M55379,M60718,M73239,M73240,M77227,U46010,X16323,X57574 NP_000592,NP_001010932,NP_001010931,NP_001010933,NP_001010934,AAC71655,AAO61091,EAL24189,EAW76992,EAW76993,BAA14348,AAG53459,AAG53460,BAD92137,BAF84363,AAH22308,AAH63485,AAI05798,AAI30285,AAI30287,AAA52649,AAA52650,AAA52648,AAA64297,AAA35980,AAC50539,CAA34387,CAA40802,P14210,Q3KRB2,Q59H59,AAA64239 Hs.396530 GDB:127524 F-TCF|HGFB|HPTA|SF protein-coding 1350664 HGFAC HGF activator The protein encoded by this gene belongs to peptidase family S1. It is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. 1580863 15713485,7683665,8226803,14718574,18221492,16335952,16189274,15340161,15172968,12477932,11201608,11013244,9874200,9346890,9045658,8631970,1838014,1368819 3083 AL590235,CH471131,D50030,Z69923,BC112190,BC112192,CR626692,D14012,NM_001528 NP_001519,CAM21456,EAW82464,BAA74450,AAI12191,AAI12193,BAA03113,Q04756,Q2M1W7,Q53X47 Hs.104 GDB:9954514 HGFA|MGC138395|MGC138397 protein-coding 1350126 HGPPS horizontal gaze palsy with progressive scoliosis 12177379 338404 733649 HGS hepatocyte growth factor-regulated tyrosine kinase substrate 1580863 9630564,8380735,14519844,9252367,18362181,17804729,17675298,17624298,17545595,17445799,17320394,17182674,17138565,17014699,16713569,16707569,16516194,16462748,16448788,16429130,16352611,16212419,16189514,15944737,15828871,15772161,15640163,15592455,15509564,15489334,15240819,15212941,15113837,12953068,12900395,12847087,12802020,12554698,12551915,12477932,12444101,12230472,12151521,12021262,11984006,11916981,11687594,11532964,11493665,11397816,11285248,11110793,11094085,10970851,10825299,10809762,10514494,10861283,15611048,12444102,9407053,10567358,12218189,15962011 9146 NM_004712,AC139530,CH471099,AF260566,BC003565,BT009754,D84064,U43895 NP_004703,EAW89675,EAW89676,EAW89677,EAW89678,EAW89679,AAF82361,AAH03565,AAP88756,BAA23366,AAC51929,O14964,ABM83477,ABM86688 Hs.514590 GDB:9958909 HRS|ZFYVE8 hgf-regulated tyrosine kinase substrate protein-coding 1606456 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 17397050,17033958,16960811,16421571,16344560,16303743,15591281,14702039,12477932 138050 NM_152419,AC113191,AK025895,AK057293,AK074839,AL355714,AL832870,BC012452,BC042037,BC050672,BC056149,BE327420,CR457352,CR602692,CR749838,DA395558,DB128369 NP_689632,BAB15273,BAB71412,AAH12452,AAH42037,CAG33633,CAH18694,Q68CP4,Q6IA03,Q8IVU6,Q96ED6,Q96M97,Q9H6I6 Hs.600384 DKFZp686G24175|FLJ22242|FLJ32731|HGNAT|MPS3C|TMEM76 protein-coding 1351064 HHAT hedgehog acyltransferase 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM] 17898072,16710414,16344560,15489334,14702039,12477932,11486055,11160356 55733 NM_018194,NM_001122834,AC096636,AL034351,AL035414,AL590653,AL691441,BX255872,CH471100,AK001586,AK092186,AL049848,BC039071,BC051191,BC117130,CR936628,DA336461,DB077466 NP_060664,NP_001116306,CAI23103,CAI22284,EAW93426,EAW93427,EAW93428,EAW93429,EAW93430,BAA91772,CAB42852,AAH39071,AAH51191,AAI17131,CAI56771,Q05BM0,Q5VTY9,Q5VTZ0 Hs.58650 FLJ10724|FLJ34867|GUP2|MART-2|MART2|SIT|SKI1|Skn|rasp|ski protein-coding 1344894 HHATL hedgehog acyltransferase-like 11374908,15489334,12477932,10574461 57467 NM_020707,AC006059,CH471055,AB032999,AB042554,AF109356,BC022529 NP_065758,EAW64666,EAW64667,EAW64668,BAA86487,BAB17758,AAQ13504,AAH22529,Q5QTR4,Q9HCP6 Hs.476041 C3orf3|GUP1|KIAA1173|MBOAT3|MSTP002|OACT3 chromosome 3 open reading frame 3 protein-coding 1344080 HHC2 hypocalciuric hypercalcemia 2 8317484 3086 GDB:249836 1343441 HHC3 hypocalciuric hypercalcemia 3 (Oklahoma type) 9915958 9151 GDB:9955121 1350411 HHEX hematopoietically expressed homeobox This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. 1580863 12554669,10871399,15016828,12655000,12826010,18477659,18469204,18461161,18437351,18426861,18231124,18210030,18162508,18039816,17971426,17928989,17827400,17804762,17786204,17632701,17618412,17463249,17463248,17463246,17293876,16854221,16582099,16540119,16189514,15489334,15242862,15187083,15062550,15024728,14555989,14517947,12588764,12477932,11889211,11701950,11551904,10597310,8103988,8096636,7911091,7858254,1360645 3087 NM_002729,AF182950,AL590080,CH471066,AA810064,BC014336,BC015110,BC050638,BI823658,BM543214,DB504532,L16499,X67235,Z21533 NP_002720,AAK12833,EAW50087,EAW50088,AAH14336,AAH15110,AAH50638,AAA02988,CAA47661,CAA79730,Q03014,Q5VUH0,Q9C057,ABZ92007 Hs.118651 GDB:138781 HEX|HMPH|HOX11L-PEN|PRH|PRHX protein-coding 1354150 HHG hypergonadotropic hypogonadism 2791656 3088 GDB:118740 1354359 HHIP hedgehog interacting protein This gene encodes a protein similar to the mouse hedgehog-interacting protein, a regulatory component of the hedgehog signalling pathway. Members of the hedgehog family are evolutionarily conserved proteins which are involved in many fundamental processes in embryonic development, including anteroposterior patterns of limbs and regulation of left-right asymmetry. 15970691,15754313,15489334,15294024,14702039,12975309,12477932,11731473,11435703,10050855 64399 NM_022475,AC098588,AF326471,CH471056,CS319970,AK024645,AK074711,AK098525,AK291849,AY009317,AY009951,AY358747,BC009298,BC015636,BC025311 NP_071920,AAK18182,EAX05054,CAK96038,BAB14945,BAC11154,BAF84538,AAG35411,AAG34731,AAQ89107,AAH09298,AAH25311,Q96QV1,ABM84544 Hs.507991 GDB:11499214 FLJ20992|FLJ90230|HIP protein-coding 1349549 HHIPL1 HHIP-like 1 1580863 14702039,12975309,12477932,11347906 84439 NM_032425,NM_001127258,AL160313,CH471061,AB058725,AK095603,AY358173,BC132877 NP_115801,NP_001120730,EAW81676,EAW81677,BAB47451,BAC04585,AAQ88540,AAI32878,Q8N971,Q96JK4 Hs.288522 KIAA1822|UNQ9245 protein-coding 1605638 HHIPL2 HHIP-like 2 16344560,14702039,12975309,12477932,11181995 79802 NM_024746,AL592148,CH471100,AK023902,AY358602,BC007638,BC015167,BC015201,BC016552,DA868891 NP_079022,CAI40465,EAW93274,BAB14717,AAQ88965,AAH07638,AAH15167,AAH15201,AAH16552,Q6UWX4 Hs.665660 FLJ13840|KIAA1822L|RP11-378J18.1 protein-coding 1353531 HHLA1 HERV-H LTR-associating 1 10329003 10086 NM_005712,AF110315 GDB:9954392 1350112 HHLA2 HERV-H LTR-associating 2 1580863 15489334,14702039,12477932,10444326 11148 NM_007072,AC078855,AC135308,CH471052,AF126162,AK000692,AK027132,BC035971 NP_009003,EAW79727,EAW79728,AAD48396,BAA91323,AAH35971,Q9UM44,ABM83536,ABM86776 Hs.252351 GDB:9956952 protein-coding 1351999 HHLA3 HERV-H LTR-associating 3 16189514,16710414,15489334,12477932,10444326 11147 NM_001036645,NM_001031693,NM_007071,NM_001036646,AL158839,CH471059,AF126163,AF126164,BC010922,BG773961,BI868263,BQ009559,CR595442 NP_001031722,NP_001026863,NP_009002,NP_001031723,CAH70972,CAH70973,EAX06452,EAX06453,EAX06454,EAX06455,AAD33288,AAD33289,AAH10922,Q5VZP2,Q9XRX5 Hs.142245 GDB:9956950 protein-coding 1313218 HIAT1 hippocampus abundant transcript 1 1580863 16303743,15489334,14702039,12477932,9299464 64645 NM_033055,AC093019,CH471097,AF427492,AK057172,AK075208,AK096669,AL137576,BC033696,BC064409,BC107768 NP_149044,EAW72976,AAL25115,BAB71375,BAC11473,BAC04836,CAB70819,AAH64409,AAI07769,Q32Q64,Q96MC6,AAI56408 Hs.124156 DKFZP564L0864 protein-coding 1606770 HIATL1 hippocampus abundant transcript-like 1 15231747,15489334,15164053,14702039,12477932,9373149,8125298 84641 NM_032558,AL158827,AL358232,AL691447,CH471174,AF255650,AK027659,AK222836,AL832415,BC021093,BC106062,BU507687,BX359483,BX648846,CR604727,CR610965 NP_115947,CAH72564,CAI13281,EAW92610,EAW92611,EAW92612,EAW92613,AAG44638,BAB55274,BAD96556,AAH21093,AAI06063,Q5SR56,Q9H2M7 Hs.555996,Hs.699244 FLJ14753|MGC117350 protein-coding 1347103 HIATL2 hippocampus abundant gene transcript-like 2 737633 15489334,15164053,12477932 737633 84278 NR_002894,AL158827,AL445670,AK127385,BC005058,CR620736 CAI15052,BAC86952,AAH05058,Q5VZR4,Q6ZSJ6 Hs.610084 FLJ45467|MGC12945 pseudo 732658 HIBADH 3-hydroxyisobutyrate dehydrogenase 3-hydroxyisobutyrate dehydrogenase (3-hydroxy-2-methylpropanoate:NAD(+) oxidoreductase, EC 1.1.1.31) is a dimeric mitochondrial enzyme that catalyzes the NAD(+)-dependent, reversible oxidation of 3-hydroxyisobutyrate, an intermediate of valine catabolism, to methylmalonate semialdehyde.[supplied by OMIM] 1580863 15489334,12853948,12690205,12477932,9847074,8313870,3335502,2647728 11112 AC005091,AC007130,CH236948,CH471073,CS300494,AB050000,AF529362,AK025558,BC013855,BC020167,BC032324,BQ051350,CR591074,CR593267,CR600318,CR607688,CR608754,CR611219,CR612191,CR616489,NM_152740 NP_689953,EAL24214,EAW93897,EAW93898,EAW93899,EAW93900,CAK32158,BAF42045,AAQ09596,AAH32324,P31937,Q546Z2,Q5XKI1,ABM85603 Hs.406758 GDB:9956820 MGC40361|NS5ATP1 protein-coding 1318134 HIBCH 3-hydroxyisobutyryl-Coenzyme A hydrolase Beta-hydroxyisobutyryl-CoA hydrolase (EC 3.1.2.4) is responsible for the specific hydrolysis of HIBYL-CoA, a valine catabolite, as well as the hydrolysis of beta-hydroxypropionyl-CoA, an intermediate in a minor pathway of propionate metabolism.[supplied by OMIM] 1580863 8824301,17160907,12477932,11580916,9373149,8188708,8125298 26275 NM_198047,NM_014362,AC010679,AC092178,CH471058,AI767349,AK222979,AK223023,BC005190,BC067822,BI764401,CA448468,CA453768,CR598902,CR602055,CR609485,CR610664,CR615079,CR618975,CR623866,U66669 NP_932164,NP_055177,AAX93234,AAY24178,EAX10873,EAX10874,EAX10875,EAX10876,EAX10877,BAD96699,BAD96743,AAH05190,AAH67822,AAC52114,Q6NVY1 Hs.656685 GDB:10795439 HIBYL-COA-H protein-coding 1316774 HIC1 hypermethylated in cancer 1 1580863 7585125,17982487,17283066,17213307,17079468,16762039,16724116,16386221,16301995,15488761,15231840,15007385,14688019,14656076,14506157,12621583,12477932,12052894,11554746,11073960,10611298,9838134,9572497 3090 NM_006497,NM_001098202,AC090617,AJ007314,AJ404688,CH471108,L41919,AJ550616,AJ583693,AJ583694,BC030208,BQ004706,DQ187313 NP_006488,NP_001091672,CAA07453,EAW90562,EAW90563,EAW90564,AAD09201,CAD79467,AAH30208,ABA60890,O95459,Q14526,Q70SM2,AAI56195,AAI57028 Hs.72956,Hs.695682 GDB:1220193 ZBTB29|hic-1 protein-coding 1313307 HIC2 hypermethylated in cancer 2 1580863 10470851,8889548,11554746,12052894,15489334,15461802,15146197,14702039,12944466,12477932,12168954,10591208 23119 NM_015094,AP000556,AP000557,CH878607,AB028943,AF349035,AJ313204,AK023021,AL162003,BC009207,BC009216,BC094787,BM675330,CN373403,CR456377 NP_055909,EAW50621,BAA82972,AAK72951,CAC70715,CAB82344,AAH94787,CAG30263,Q96JB3,CAK54513,CAK54812 Hs.592456,Hs.632767 GDB:9955017 HRG22|KIAA1020|ZBTB30 protein-coding 730935 HIF1A hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) Hypoxia-inducible factor-1 (HIF1) is a transcription factor found in mammalian cells cultured under reduced oxygen tension that plays an essential role in cellular and systemic homeostatic responses to hypoxia. HIF1 is a heterodimer composed of an alpha subunit and a beta subunit. The beta subunit has been identified as the aryl hydrocarbon receptor nuclear translocator (ARNT). This gene encodes the alpha subunit of HIF-1. Overexpression of a natural antisense transcript (aHIF) of this gene has been shown to be associated with nonpapillary renal carcinomas. Two alternative transcripts encoding different isoforms have been identified. 1580863,1601553,1626317,1626323,625730,1626327,1626334,1626330,1626332,1626322,1626331,1334463,1334466,1580561,1626320,1626324 9079689,15261140,9887100,12239177,16956324,9576906,11782478,12411310,18398039,18370960,18362831,18347341,18325389,18314489,18299578,18297062,18295594,18294451,18290322,18279708,18258605,18256363,18225753,18209490,18199003,18184961,18184809,18178340,18172309,18172210,18166158,18163427,18160046,18154573,16631533,16629644,16627691,16612574,16611863,16596228,16579968,16555123,16554418,16552335,16543245,16543242,16543236,16533170,16516853,16516166,16515634,16506055,16490744,16482104,16452478,16438736,16421254,16407835,16396931,16344560,16341243,16338068,16337862,16331995,16304044,16288748,16288478,16284786,16278385,16278378,16263938,16253768,16246222,16242072,16229017,16227395,16208522,16205110,16195397,16189514,16170370,16168127,16161047,16157596,16149050,16144691,16142350,16140212,16139409,16136514,16136272,16110315,16109785,16100168,16046581,16035955,16007214,11971899,11959990,11959977,11943784,11940656,11886167,11868612,11861398,11852072,11823643,11739718,11734856,11726537,11707426,11641274,11598268,11566883,11504942,11389899,11382768,11292862,11292861,11278891,11089639,11006129,10961998,10950862,10944113,10906065,10903152,10823831,10777486,10758161,10702253,15169887,15160341,15156561,15155569,15135470,15135259,15111179,15084514,15084243,15082785,15071503,15064771,15062033,15031145,15024078,15024076,14981919,14757845,14744852,14744756,14742449,14734545,14729605,14726529,14712484,14702039,14699081,14681237,14680833,14680803,14672622,14671307,14662854,14657004,14645546,14638687,14636255,14559790,14556007,14523474,14521712,14512791,12966423,12944107,12937141,12919954,12914934,12914933,12912907,12900407,12885785,12883692,12876287,12871382,12865501,12858534,12855680,12823854,12821113,12810083,12781449,12764143,12761217,12743597,12727858,12697836,12682018,12673675,12670503,16005427,12651620,12632503,12606552,12588875,12586627,12560087,12488445,12485909,12485908,12482858,12482756,12477932,12468553,12464182,12451989,12446723,12401798,12376345,12351678,12296651,12242281,12237125,12228247,12215445,12213806,12213597,12209691,12207089,12202863,12154057,12149254,12136249,12124396,12123724,12099689,12084725,12080085,12062197,12050673,12042299,12016145,12004076,11992540,11980639,15987702,15987493,15983061,15978586,15970466,15967109,15964822,15962286,15947089,15935515,15902299,15897903,15878343,15864753,15862307,15850830,15832512,15831177,15814637,15811877,15809750,15805242,15805230,15770733,15750626,15741220,15994306,10594042,10551817,10425220,10202154,9923855,9828130,9822602,9782081,9660756,9653127,9537326,9235919,8927054,8816435,8786149,8753788,8107114,8089148,7836384,7539918,15780936,8663540,11593383,15721254,9704006,10640274,18097583,18094421,18083891,18081507,18065728,18055454,18050252,18050215,18047470,18037992,18035072,18031949,18025805,18024825,18024476,18021370,18006690,18000826,17999410,17990984,17989922,17984117,17982282,17978497,17967880,17967866,17967865,17965024,17956732,17947829,17932327,17927572,17916562,17898080,17893997,17891484,17889387,17881647,17875644,17848618,17828303,17826745,17822384,17785433,17726031,17725546,17721610,17714861,17713282,17684492,17676480,17674038,17666400,17662481,17653093,17640715,17637739,17634230,17624927,17617866,17606258,17597020,17595907,17592963,17591803,17576198,17570486,17568584,17563752,17562866,17562539,17558023,17555795,17544543,17532031,17525282,17519789,17519536,17511040,17507435,17495954,17490410,17488873,17487356,17482131,17477366,17474992,17461470,17458899,17452775,17451682,17442736,17442277,17438103,17437013,17426252,17426247,17418979,17407091,17404022,17400550,17387384,17382325,17382205,17360382,17343848,17336340,17335808,17325032,17320759,17310851,17307335,17292638,17290185,17289897,17289019,17268888,17245699,17189520,17179985,17143338,17135241,17102633,17102128,17097641,17097563,17077301,17075581,17067582,17066447,17060462,17060326,17055760,17043658,17015745,17015263,17010341,16998808,16979927,16970912,16969516,17418790,16954218,16951228,16951198,16937436,16920734,16901993,16899602,16899596,16890383,16885164,16883594,16873253,16871792,16865676,16854377,16849522,16847054,16837101,16828081,16826581,16826425,16815840,16779673,16775835,16775626,16769565,16768548,16760477,16756955,16738327,16735500,16721291,16682946,15718424,15709180,15696961,15674338,15669079,15665520,15656883,15652751,15629713,15623945,15615775,15611064,15611046,15598882,15598682,15561954,15556623,15543236,15538748,15492789,15489637,15489334,15485863,15479785,15475194,15474452,15466858,15388333,15385570,16261165,15735682,15374877,15350301,15342781,15342390,15331549,15328163,15322093,15280370,15280364,15252039,15247232,15240563,15240510,15217953,15199161,15199132,15199114,15191555,15175080,15170665 1601553,1626317,1626323,625730,1626327,1626334,1626330,1626332,1626322,1626331,1334463,1334466,1580561,1626320,1626324 3091 NM_001530,NM_181054,AF050127,AF208487,AL137129,CH471061,AB073325,AF207601,AF207602,AF304431,AJ227916,AK093749,AU123241,BC012527,BT009776,BX648795,U22431,U29165,X72726 NP_001521,NP_851397,AAC68568,AAF20149,EAW80806,EAW80807,EAW80808,EAW80809,BAB70608,AAF20139,AAF20140,AAG43026,AAH12527,AAP88778,AAC50152,AAC51210,Q16665 Hs.654600 GDB:512229 HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8 protein-coding 1317966 HIF1AN hypoxia-inducible factor 1, alpha subunit inhibitor 1580863,1334466 12446723,18398039,18299578,18096060,17682059,17573339,17188242,17003112,16189514,15489334,15280364,14734545,14702039,14701857,12482756,12477932,12432100,12080085,12042299,11959990,11823643,11641274 1334466 55662 NM_017902,AL133352,CH471066,AF395830,AK000622,AK025680,AL359615,AW015561,BC007719,BC015574,CR621864 NP_060372,CAH73566,EAW49817,EAW49818,AAL27308,BAA91291,BAB15213,CAB94885,AAH07719,Q5W147,Q9H6P2,Q9NWT6,ABM83693,ABM87012 Hs.500788 GDB:11504304 DKFZp762F1811|FIH1|FLJ20615|FLJ22027 protein-coding 1605351 HIF3A hypoxia inducible factor 3, alpha subunit The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. At least three transcript variants encoding three different isoforms have been found for this gene. 17998805,17121608,16775626,16344560,16182248,16126907,14702039,12538644,12477932,12119283,11734856,11573933 64344 AF463492,AK021421,AK021653,AK021881,AK024095,AK027725,AL541807,NM_152795,BC026308,BC080551,BE250712,BI772109,BQ706970,CR612598,CR615892,DA562618,DB176660,DN989983,NM_022462,NM_152794,AC007193,CH471126,AB054067,AB118749,AB295039,AF079154 AAL69947,BAB13819,BAB13865,BAB14824,BAB55324,AAH26308,AAH80551,O95262,Q9HAM5,Q9UPH7,Q9Y2N7,NP_690008,NP_071907,NP_690007,AAD22667,AAD22668,EAW57408,EAW57409,EAW57410,EAW57411,EAW57412,EAW57413,EAW57414,BAB69689,BAD93355,BAG07185,AAC99397 Hs.420830 GDB:11508808 HIF-3A|HIF-3A2|HIF-3A4|IPAS|MOP7|PASD7 protein-coding 1607036 HIG2 hypoxia-inducible protein 2 12690205,12477932,9373149,8125298,10690527,15930302,15489334 29923 CH471070,CS047958,AF144755,AK024729,AK222583,AL691669,BC001863,BC008573,BC093742,BC112183,CD686848,CR613444,CR617951,CR623904,CR624882,CR624903,CX784347,NM_013332,NM_001098786,AC010655,CH236947 EAW83654,EAW83655,EAW83656,CAI70370,AAD37585,BAD96303,AAH01863,AAH08573,AAH93742,AAI12184,Q53HJ7,Q96HI5,Q9Y5L2,NP_037464,NP_001092256,EAL24309 Hs.433213 FLJ21076|MGC138388 protein-coding 1603666 HIGD1A HIG1 domain family, member 1A 17353931,11256614,16381901,16344560,15489336,15489334,15342556,12477932,11230166,11076863,11042152,10690527,9373149,8889548,8125298 25994 BC009583,BC009594,BC070277,BG708126,BM983292,BM983580,BP208784,BP370118,CR457385,CR593020,CR594522,CR597875,CR604953,CR612196,CR613730,CR617676,CR620520,CR623256,CR624636,DA428926,NM_001099669,NM_014056,NM_001099668,AC099329,CH471055,AF077034,AF145385,AK225461,AK225571,AL110233,BC000601 AAH00601,AAH09583,AAH09594,AAH70277,CAG33666,Q0JS09,Q9Y241,CAL38705,NP_001093139,NP_054775,NP_001093138,EAW64673,EAW64674,EAW64675,EAW64676,EAW64677,AAD27767,AAD33954,CAB53686 Hs.7917,Hs.593134,Hs.705661 DKFZP564K247|HIG1 protein-coding 1601998 HIGD1B HIG1 domain family, member 1B 15489334,12477932 51751 CS185587,AB038021,AB038022,BC020667,NM_016438,AC015936,CH471178 EAW51575,EAW51576,CAJ42768,BAA90725,BAA90726,AAH20667,Q9P298,NP_057522 Hs.287963 CLST11240|CLST11240-15 protein-coding 1602019 HIGD1C HIG1 domain family, member 1C 15869325 613227 NM_001109619,AC008121,DQ029494,DW009649 NP_001103089 Hs.702849 GM921|UBIE|UBIE2 protein-coding 1603886 HIGD2A HIG1 domain family, member 2A 15489334,12477932 192286 NM_138820,AC138956,CH471195,BC007502 NP_620175,EAW85081,EAW85082,AAH07502,Q9BW72,ABM82819,ABM86006 Hs.534575 MGC2198 protein-coding 1603920 HIGD2BP HIG1 domain family, member 2B pseudogene 12477932 123346 NR_002780,AC009712,CH471082,BC040890 EAW77911,AAH40890,Q4VC39 Hs.434111 pseudo 1604942 HILS1 histone linker H1 domain, spermatid-specific 1 In mouse, Hils1 displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids (Yan et al., 2003 [PubMed 12920187]).[supplied by OMIM] 17852044,14636221,12920187,12477932 373861 XR_040471,XR_040473,XR_040472,AC015909,AY286318,BC033456,BC048250,BC109047,BC109048 AAQ23050,AAI09048,AAI09049,P60008,Q32MP2 Hs.25934 miscrna 1606034 HINT1 histidine triad nucleotide binding protein 1 9770345,8812426,17978999,17939685,17126529,16835243,15489334,14702039,12665801,12477932,12119013,11805111,11771757,9323207,8643579,7644499,12775419 3094 NM_005340,AC004650,CH471062,AK026557,AK054976,AK056902,BC001287,BC007090,BG708765,CR457048,U27143,U51004 NP_005331,EAW62376,BAB15500,AAH01287,AAH07090,CAG33329,AAA82926,AAC71077,P49773 Hs.483305 GDB:1230507 FLJ30414|FLJ32340|HINT|PKCI-1|PRKCNH1 protein-coding 1318948 HINT2 histidine triad nucleotide binding protein 2 Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM] 1580863 15489334,12477932,12119013,9373149,8125298 84681 NM_032593,AF490476,AL133410,CH471071,AF085236,AF356515,AF356875,AK222582,AY033094,BC033538,BC047737,BI759951,BM764627 NP_115982,AAM09526,CAI10991,EAW58331,EAW58332,EAW58333,EAW58334,AAL40394,AAK37562,AAM00221,BAD96302,AAK53455,AAH47737,Q53HJ8,Q5TCW3,Q8WYJ5,Q9BX68 Hs.70573 GDB:11503403 HIT-17 protein-coding 1347010 HINT3 histidine triad nucleotide binding protein 3 Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM] 14702039,12477932,12119013,11805111 135114 NM_138571,AL035689,CH471051,AJ420577,AK056858,AK057688,AY035387,AY035388,AY486460,AY486461,BC015732,BX647228,CR616633 NP_612638,CAB92728,EAW48128,EAW48129,AAK71347,AAK71348,AAR89533,AAR89534,AAH15732,Q9NQE9,ABM83127,ABM86322 Hs.72325 GDB:11506127 FLJ33126|HINT4|MGC22976 protein-coding 736003 HIP1 huntingtin interacting protein 1 The product of this gene is a membrane-associated protein that colocalizes with huntingtin. This protein has similarities to cytoskeleton proteins and its interaction with huntingtin is thought to play a functional role in the cell filament network. Loss of normal huntingtin-HIP1 interaction in Huntington disease may contribute to a defect in membrane-cytoskeletal integrity in the brain. This gene could help in the understanding of the normal function of huntingtin and also the pathogenesis of Huntington disease. It also has been implicated in the pathogenesis of hematopoietic malignancies. An alternative splice variant of this gene has been described but its full length sequence has not been determined. 1580863 11577110,9140394,11788820,11604514,9147654,18155047,17452370,16979168,16847693,16169070,16027218,15581353,15533940,15383276,15122254,15059611,14732715,14702039,12853948,12477932,12163454,11889126,11532990,11517213,11063258,11007801,10222105,9616134,9417924,1189126 3092 NM_005338,AC004491,AC018720,AF052288,CH471220,AF365404,AF486833,AI978782,AK094866,BC110545,BC139786,BE389909,BG027957,BM550560,BM556334,BM739599,BQ581346,CA427404,U79734,Y09420 NP_005329,AAC33564,EAW71767,EAW71768,AAL87037,AAL93198,BAC04441,AAI10546,AAI39787,AAC51257,CAA70574,O00291,Q2TB58,Q8N1U6,Q8TDA4 Hs.329266,Hs.619089 GDB:6888138 ILWEQ|MGC126506 protein-coding 733372 HIP1R huntingtin interacting protein 1 related 18165318,17928447,17452370,16415883,15588756,15581353,14760703,14742709,14732715,14702039,12477932,11889126,11063258,9852681,9734811,1189126 9026 NM_003959,AC027290,CH471054,AB013384,AB014555,AK024062,AK090537,AW962010,BC011354,BC038981,BC067085,CF454957 NP_003950,EAW98346,EAW98347,BAA33713,BAA31630,AAH67085,O75146,Q6NXG8 Hs.524815,Hs.654842 FLJ14000|HIP12|HIP3|ILWEQ|KIAA0655|MGC47513 protein-coding 1312671 HIPK1 homeodomain interacting protein kinase 1 The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. 12529400,12702766,15701637,15489334,15231748,14702039,12968034,12477932,9748262,9734811,16189514 204851 AL137856,AL731797,CH471122,AB014530,AB089957,AK122662,AL833829,BC028408,BC033012,BC033339,BC036057,BC052493,CR614463,NM_198268,NM_152696,NM_198269,NM_181358 NP_852003,CAI22792,CAI22793,CAI22794,CAI22795,CAI22796,EAW56585,EAW56586,EAW56587,EAW56588,EAW56589,EAW56590,EAW56591,EAW56592,EAW56593,BAA31605,BAC57075,CAD38689,AAH28408,AAH33012,AAH36057,Q5SQL1,Q5SQL2,Q5SQL3,Q5SQL4,Q5SQL5,Q86Z02,NP_938009,NP_689909,NP_938010 Hs.532363 KIAA0630|MGC26642|MGC33446|MGC33548|Myak|Nbak2 protein-coding 1319649 HIPK2 homeodomain interacting protein kinase 2 HIPK2 is a conserved serine/threonine nuclear kinase that interacts with homeodomain transcription factors.[supplied by OMIM] 1580863 12220523,9748262,14990717,15122315,14678985,14626429,18093972,17960875,17627287,17533375,17349959,17332358,17290307,17245128,17018294,16738336,16601678,16467083,16407227,16343438,16253240,16212962,15958389,15896780,15766567,15708980,15146197,14647468,14609633,12907596,12874272,12853948,12851404,12690205,12477932,11925430,11798164,11780126,11740489,11593421,11438542,11267674,11120354,11032752,10559189,10535925,9110174,8619474,15082531,14667819,11532197 28996 NM_022740,NM_001113239,AC005531,AC073184,AC141932,CH236950,CH471070,CQ967477,AF055019,AF207702,AF208291,AF326592,AK074291,BC041926,BC043652,BC045719,BX647377,CK818532,CN413736 NP_073577,NP_001106710,AAS00368,EAL24035,EAW83925,EAW83926,EAW83927,EAW83928,EAW83929,CAI38625,AAG35710,AAG41236,AAL37371,Q9H2X6,Q9UI21 Hs.397465,Hs.632033 GDB:11500816 DKFZp686K02111|FLJ23711|PRO0593 protein-coding 731500 HIPK3 homeodomain interacting protein kinase 3 11034606,14766760,17210646,16554811,16000324,15592455,15231748,10961991,10737800,10640824,10640736,9748262,9725910,9373137 10114 NM_005734,NM_001048200,AL122015,AL136126,CH471064,AA456456,AF004849,AF305239,AK293009,AL597397,AW819916,AY425958,BF332205,DR000092,Y09306 NP_005725,NP_001041665,EAW68198,EAW68199,AAC64294,AAG25990,BAF85698,AAR07951,CAA70489,Q6TAR1,Q9H422,AAI46312,AAI56874 Hs.201918 GDB:9955250 DYRK6|FIST3|PKY|YAK1 protein-coding 1316795 HIPK4 homeodomain interacting protein kinase 4 1580863 18022393,15489334,14702039,12477932 147746 NM_144685,AC010271,CH471126,CQ891383,AK057380,AK292228,BC034501 NP_653286,EAW56960,EAW56961,CAH68679,BAB71458,BAF84917,AAH34501,Q8NE63 Hs.79363 FLJ32818 protein-coding 1346310 HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae) This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. 1580863 15231747,9731536,7633437,9710638,17242207,16980972,16024922,15621527,15561718,15489334,15461802,12477932,11342215,11238922,8995764,8681138,8111380 7290 NM_003325,AC000079,AC000085,AC000092,CH471176,X91501,AK289809,BC032721,BC039835,CR456503,X75296,X77633,X81844,X89887 EAX03043,NP_003316,CAA62800,EAX03044,BAF82498,AAH32721,AAH39835,CAG30389,CAA53044,CAA54721,CAA57436,CAA61979,P54198,CAK54532,CAK54831 Hs.474206 GDB:303927 DGCR1|TUP1|TUPLE1 protein-coding 1315096 HIRIP3 HIRA interacting protein 3 The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Recently, several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the HIRIP3 gene product binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. 1580863 9710638,17391060,17081983,16964243,16083285,15489334,15302935,12477932 8479 NM_003609,AC093512,CH471238,AJ223349,AJ223350,AJ223351,AK075145,BC000588,CR623473,CR624147 NP_003600,EAW79960,EAW79961,CAA11273,CAA11274,CAA11275,AAH00588,Q9BW71 Hs.592046 GDB:9955240 protein-coding 1604040 HISPPD1 histidine acid phosphatase domain containing 1 Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD1 has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).[supplied by OMIM] 17702752,17690096,12477932,9455477 23262 NM_015216,AC008447,AC011362,CH471086,AB007893,AK025159,BC024591,CR597259 NP_056031,EAW49076,EAW49077,EAW49078,EAW49079,BAA24863,AAH24591,O43314 Hs.212046 FLJ21506|KIAA0433|PPIP5K2|VIP2 protein-coding 1605707 HISPPD2A histidine acid phosphatase domain containing 2A Inositol phosphates (IPs) and diphosphoinositol phosphates (PP-IPs), also known as inositol pyrophosphates, act as cell signaling molecules. HISPPD2A has both IP6 kinase (EC 2.7.4.21) and PP-IP5 (also called IP7) kinase (EC 2.7.4.24) activities that produce the high-energy pyrophosphates PP-IP5 and PP2-IP4 (also called IP8), respectively (Fridy et al., 2007 [PubMed 17690096]).[supplied by OMIM] 17412958,17702752,17690096,12825070,12477932,9205841 9677 AI214309,BC035611,BC050263,BC057395,BX538022,BX647814,BX647870,NM_014659,NM_001024463,XM_001723275,NG_005156,AC011330,AC019011,CH471125,AB002375,AF502586,AF502587,AF502588,AF502589,AF543190 AAN40768,AAH50263,AAH57395,CAD97968,CAI46011,Q6PFW1,NP_055474,NP_001019634,XP_001723327,EAW92609,BAA20831,AAP30842,AAP30843,AAP30844,AAP30845 Hs.156814 DKFZp313L0221|IP6K|IPS1|KIAA0377|MGC51871|PPIP5K1|VIP1 protein-coding 2290510 HISPPD2B histidine acid phosphatase domain containing 2B (pseudogene) 12825070 554224 NG_005156,AC011330 HISPPD2BP pseudo 1313894 HIST1H1A histone cluster 1, H1a Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 7989039,15595731,15489334,14985337,12477932,12408966,11266453,11130728,10893414,10523312,10022855,9760185,9119399,8814229,8325638,7499230,2759094,1989977,14595808,8463339,15205535 3024 NM_005325,NG_001335,AF531299,CH471087,X57130,BC069492,BC101593,BC112140 NP_005316,AAN06699,EAW55507,CAA40409,AAH69492,AAI01594,AAI12141,Q02539,ABZ92487 Hs.150206 H1.1|H1F1|HIST1|MGC126642|MGC138345 histone 1, h1a protein-coding 1351111 HIST1H1B histone cluster 1, H1b Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 1580863 17081983,16377619,16216881,16185066,15635413,15595731,15489334,15469825,14574404,12686141,12477932,12408966,11266453,9873047,9439656,9119399,9031620,8325638,7629134,6719136,3782055,3182772,2829131,2613692 3009 NM_005322,NG_000009,AF531304,CH471081,K02570,M23203,X06757,X83509,Z98744,BC069101,BC101581,BC101583 NP_005313,AAN06704,EAX03119,AAA35943,CAA29930,CAA58498,CAB11421,AAH69101,AAI01582,AAI01584,P16401,Q14463,ABZ92488 Hs.131956 H1|H1.5|H1F5|MGC126630|MGC126632 histone 1, h1b protein-coding 1343160 HIST1H1C histone cluster 1, H1c Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 18258596,17081983,16854430,15635413,15595731,15489334,12477932,12408966,10997781,10893414,9439656,8325638,8055927,2759094,2613692 3006 NM_005319,NG_001335,AF531300,CH471087,X57129,AK290947,BC002649 NP_005310,AAN06700,EAW55515,CAA40408,BAF83636,AAH02649,P16403,ABZ92489 Hs.7644 H1.2|H1F2|MGC3992 histone 1, h1c protein-coding 1343145 HIST1H1D histone cluster 1, H1d Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 17081983,15635413,15595731,15489334,14574404,12477932,12408966,11478838,9439656,9119399,8325638,2613692,2071153,1916825 3007 NM_005320,NG_001335,AF531303,AL031777,CH471087,M60747,BC104874,BC111971 NP_005311,AAN06703,CAB39189,EAW55548,AAA63186,AAI04875,AAI11972,P16402,ABZ92490 Hs.136857 H1.3|H1F3|MGC138176 histone 1, h1d protein-coding 1345558 HIST1H1E histone cluster 1, H1e Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 17540172,18314153,17081983,16127177,15635413,15595731,15489334,14574404,12498347,12477932,12408966,9439656,9119399,8325638,7607502,3782055,1916825 3008 NM_005321,NG_001335,AF531302,AL353759,CH471087,M60748,BC096168,BC096169,BC096170,BC099632,EF065554,EF065555 Q4VB24,ABN72277,P10412,NP_005312,AAN06702,CAC04132,EAW55534,AAA63187,AAH96168,AAH96169,AAH96170,AAH99632,ABN72276 Hs.248133 H1.4|H1F4|MGC116819|dJ221C16.5 histone 1, h1e protein-coding 1348498 HIST1H1PS1 histone 1, H1, pseudogene 1 387325 1346974 HIST1H1PS2 histone cluster 1, H1, pseudogene 2 9119399,9031620 10338 NG_001335,X67080 H3FEP|pH3/e pseudo 737047 HIST1H1T histone cluster 1, H1t Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 1889752,17081983,15489334,12477932,12408966,10529182,9809674,9765591,9119399,8325638,8175896 3010 NG_001335,AF531301,CH471087,M60094,M97755,BC069517,BC130350,NM_005323 AAN06701,EAW55529,AAA35944,AAA19936,AAH69517,AAI30351,P22492,ABZ92491,NP_005314 Hs.533293 H1FT|H1t|MGC163222|dJ221C16.2 histone 1, h1t protein-coding 1349225 HIST1H2AA histone cluster 1, H2aa Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. 1580863 14574404,12477932,12408966,11689053,11080476,9566873,14657027,16702407,16359901,15823041,15489334,15386022,15078818,15010469 221613 NM_170745,AL512384,AY131982,CH471087,BC062211 NP_734466,CAC44614,AAN59963,EAW55489,AAH62211,Q96QV6 Hs.406739 H2AFR|bA317E16.2 protein-coding 1345991 HIST1H2AB histone cluster 1, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 1580863 6647026,16702407,16359901,15823041,15635413,15386022,15078818,15010469,14993289,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8335 NM_003513,NG_001335,AY131983,CH471087,X00089,Z83741,BC125140 NP_003504,AAN59964,EAW55512,CAA24951,CAB06036,AAI25141,P04908,Q08AJ9,AAI66650 Hs.248174 H2A/m|H2AFM histone 1, h2ab protein-coding 1345959 HIST1H2AC histone cluster 1, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 16702407,16457589,16359901,16319397,15823041,15635413,15489334,15386022,15078818,15010469,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9149941,9119399 8334 NM_003512,NG_001335,AL353759,AY131984,CH471087,U91328,Z80778,BC017379,BC050602,BC085010,U90551 NP_003503,AAN59965,EAW55532,EAW55533,AAB82086,CAB02540,AAH17379,AAH50602,AAH85010,AAB53429,Q93077 Hs.484950 H2A/l|H2AFL|MGC99519|dJ221C16.4 histone 1, h2ac protein-coding 1342566 HIST1H2AD histone cluster 1, H2ad Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 1580863 10384058,9566873,9439656,9119399,14657027,12477932,12408966,11689053,11080476 3013 BC093809,BC128035,CR541970,CR541999,NM_021065,NG_001335,AL031777,AY131985,CH471087,Z80776,BC093807 AAH93809,AAI28036,CAG46768,CAG46796,P20671,ABZ92492,NP_066409,CAB39197,AAN59966,EAW55542,CAB02538,AAH93807 Hs.679229 H2A.3|H2A/g|H2AFG|HIST1H3D histone 1, h2ad protein-coding 1353821 HIST1H2AE histone cluster 1, H2ae Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 1580863 16702407,16457589,16359901,16319397,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11709551,11689053,11080476,9566873,9439656,9325046,9119399,1916825 3012 NG_001335,AL031777,AY131986,CH471087,M60752,BC093836,BC093862,NM_021052 NP_066390,CAB39192,AAN59967,EAW55546,AAA63191,AAH93836,AAH93862,P28001,ABZ92493 Hs.121017 H2A.1|H2A.2|H2A/a|H2AFA histone 1, h2ae protein-coding 1344301 HIST1H2AG histone cluster 1, H2ag Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. 14657027,12477932,12408966,11689053,11080476,10384058,10064132,9566873,9439656,8179821,11799066 8969 NM_021064,NG_000827,AL021807,AY131987,CH471081,BC016677,BC067782,L19778 NP_066408,CAA16948,AAN59968,EAX03083,AAH16677,AAC24466,P0C0S8,ABM81950,ABM85130,ABM85212 Hs.51011 H2A.1b|H2A/p|H2AFP|pH2A/f protein-coding 1349795 HIST1H2AH histone cluster 1, H2ah Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. 1580863 17074886,16702407,16359901,16319397,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11689053,11080476,10384058,10064132,9566873 85235 NM_080596,NG_000827,AL021807,AY131988,CH471081,BC093849,BC093851,BC134366,BC148293 NP_542163,CAA16944,AAN59969,EAX03087,AAH93849,AAH93851,AAI34367,AAI48294,Q96KK5,AAI41470 Hs.352225 H2A/S|H2AFALii|MGC171151|dJ86C11.1 histone 1, h2ah protein-coding 1346479 HIST1H2AI histone cluster 1, H2ai Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12477932,12408966,11689053,11080476,10064132,9566873,9439656 8329 NM_003509,NG_000009,AL009179,AY131989,CH471081,Z83742,BC112254,BC112256 NP_003500,CAA15669,AAN59970,EAX03107,CAB06037,AAI12255,AAI12257,P0C0S8,ABZ92494 Hs.534035 H2A/c|H2AFC histone 1, h2ai protein-coding 1342935 HIST1H2AJ histone cluster 1, H2aj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12477932,12408966,11790298,11689053,11080476,10064132,9566873,9439656,8814229 8331 NM_021066,NG_000009,AL049822,AY131990,CH471081,Z83736,BC066232,BC066233,BC066234,BC066235,BC066236,BC066237,BC133048,BC133050 NP_066544,CAB81656,AAN59971,EAX03109,CAB06031,AAH66232,AAH66233,AAH66234,AAH66235,AAH66236,AAH66237,AAI33049,AAI33051 Hs.406691 H2A/E|H2AFE|dJ160A22.4 histone 1, h2aj protein-coding 1312612 HIST1H2AK histone cluster 1, H2ak Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 1580863 16702407,16457589,16359901,16319397,15823041,15635413,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11689053,11080476,10064132,9566873,9439656 8330 NM_003510,NG_000009,AY131991,CH471081,Z83739,Z98744,BC034487,BC104198,BC104199 NP_003501,AAN59972,EAX03113,CAB06034,CAB11417,AAH34487,AAI04199,AAI04200,P0C0S8,Q99878 Hs.558421 H2A/d|H2AFD histone 1, h2ak protein-coding 1319217 HIST1H2AL histone cluster 1, H2al Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12489984,12477932,12408966,11689053,11080476,10064132,10022855,9651585,9566873,9439656,9031620,1989977 8332 NM_003511,NG_000009,AY131992,CH471081,X83549,Z98744,BC069306,BC112072 NP_003502,AAN59973,EAX03118,CAA58539,CAD24073,CAD24077,AAH69306,AAI12073,P0C0S8 Hs.233568 H2A.i|H2A/i|H2AFI|HIST1H2AM|dJ193B12.9 histone 1, h2al protein-coding 1323073 HIST1H2AM histone cluster 1, H2am Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 16702407,16457589,16359901,16319397,15823041,15489334,15386022,15078818,15010469,14657027,14574404,12477932,12408966,11709551,11689053,11080476,10064132,9566873,9439656,8179821,7410338,1768865 8336 NM_003514,NG_000009,AY131993,CH471081,X57138,BC032756,BC071668 NP_003505,AAN59974,EAX03123,CAA40417,AAH32756,AAH71668,P0C0S8,ABM82113,ABM85296 Hs.134999 H2A.1|H2A/n|H2AFN|dJ193B12.1 histone 1, h2am protein-coding 1343258 HIST1H2APS1 histone 1, H2a, pseudogene 1 387319 1344934 HIST1H2APS2 histone cluster 1, H2a, pseudogene 2 10384058 85303 NG_002685,AF098457,AL138726 H2A/T|H2AFTP|dJ139G21.2 histone 1, h2a, pseudogene 2 pseudo 1348318 HIST1H2APS3 histone 1, H2a, pseudogene 3 387323 1348354 HIST1H2APS4 histone cluster 1, H2a, pseudogene 4 9119399 8333 NG_001335,AL031777,Z80777 CAB02539,Q92646 H2A/k|H2AFK|H2AFKP|dJ34B20.2|pH2A/k histone 1, h2a, pseudogene 4 pseudo 1344950 HIST1H2APS5 histone cluster 1, H2a, pseudogene 5 8227173 10341 NG_001335,X57131 H2AFFP|pH2A/f pseudo 1352004 HIST1H2BA histone cluster 1, H2ba Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. 1580863 16916647,16713563,16307923,16283522,15709765,15489334,14657027,14574404,12477932,12408966,12213818,11689053,11080476,9566873,12786946 255626 NM_170610,AF397301,AF531284,AL512384,CH471087,BC066238,BC066239,BC066240,BC066241,BC066242,BC066243 NP_733759,AAK84040,AAN06684,CAC44615,EAW55490,AAH66238,AAH66239,AAH66240,AAH66241,AAH66242,AAH66243,Q96A08 Hs.591786 H2BFU|STBP|TSH2B|bA317E16.3 protein-coding 1343461 HIST1H2BB histone cluster 1, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 1580863 9439656,16916647,16713563,16319397,16307923,16283522,15489334,14993289,14657027,12757711,12477932,12408966,11709551,11689053,11080476,9566873,9119399,8227173,1916825 3018 NM_021062,NG_001335,AF531285,CH471087,X57127,BC096728 NP_066406,AAN06685,EAW55513,CAA40406,AAH96728,P33778,ABZ92495 Hs.553494 H2B.1|H2B/f|H2BFF|MGC119804 histone 1, h2bb protein-coding 1344863 HIST1H2BC histone cluster 1, H2bc Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 422550,9119399,17353931,14657027,12477932,12408966,11689053,11080476,9566873,9439656 8347 NM_003526,NG_001335,AF531286,AL353759,CH471087,Z80783,BC009612,BC105595,BC106899 NP_003517,AAN06686,CAC04130,EAW55530,EAW55531,CAB02545,AAI05596,AAI06900,P62807 Hs.658713 H2B.1|H2B/l|H2BFL|MGC104246|dJ221C16.3 histone 1, h2bc protein-coding 1316135 HIST1H2BD histone cluster 1, H2bd Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. 1580863 16916647,16713563,16627869,16457587,16319397,16307923,16283522,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,9710638,9566873,9439656,9119399,1916825 3017 NM_138720,NM_021063,NG_001335,AF531287,AL353759,CH471087,M60751,AJ223353,AK292712,BC002842,BC096122 NP_619790,NP_066407,AAN06687,CAC04133,EAW55535,EAW55536,AAA63190,CAA11277,BAF85401,AAH02842,AAH96122,P58876 Hs.591797 H2B.1B|H2B/b|H2BFB|HIRIP2|MGC90432|dJ221C16.6 histone 1, h2bd protein-coding 1350317 HIST1H2BE histone cluster 1, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 16916647,16713563,16627869,16319397,16307923,16283522,15489334,14657027,14574404,12757711,12477932,11689053,11080476,12408966,9566873,9439656,9119399,1768865,422550 8344 NM_003523,NG_001335,AF531288,AL353759,CH471087,Z80780,Z98744,BC101748,BC101750 NP_003514,AAN06688,EAW55537,CAB02542,CAD24078,AAI01749,AAI01751,P62807,ABZ92496 Hs.534369 H2B.h|H2B/h|H2BFH|H2BFN|dJ221C16.8 histone 1, h2be protein-coding 1346859 HIST1H2BF histone cluster 1, H2bf Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14657027,12477932,12408966,11689053,11080476,10064132,9566873,9439656,9119399,422550 8343 NM_003522,NG_001335,AF531289,AL031777,CH471087,Z80779,BC056264,BC096120,BC096123 NP_003513,AAN06689,EAW55543,CAB02541,AAH96120,AAH96123,P62807 Hs.182137 H2B/g|H2BFG histone 1, h2bf protein-coding 1346575 HIST1H2BG histone cluster 1, H2bg Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 16916647,16713563,16627869,16457587,16319397,16307923,16283522,15489334,15019208,14657027,14595808,14574404,12860195,12757711,12477932,12408966,11859126,11790298,11689053,11080476,9973324,9566873,9439656,9119399,8814229,8620898,1916825,422550 8339 NM_003518,NG_001335,AF531290,AL031777,CH471087,M60750,BC082232 NP_003509,AAN06690,CAC03411,CAC03417,CAC03420,EAW55545,AAA63189,AAH82232,P62807,ABZ92497 Hs.591809 H2B.1A|H2B/a|H2BFA|HIST1H2BF|HIST1H2BI|dJ221C16.8 histone 1, h2bg protein-coding 1343164 HIST1H2BH histone cluster 1, H2bh Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 16457587,16319397,16307923,16283522,14657027,14574404,12757711,12477932,12408966,11689053,11080476,9566873,9119399,16916647,16713563,16627869,9439656 8345 NM_003524,NG_001335,AF531291,AL031777,CH471087,Z80781,BC096116,BC096117,BC096118,BC096119 NP_003515,AAN06691,CAB39185,EAW55552,CAB02543,AAH96116,AAH96117,AAH96118,AAH96119,Q93079 Hs.247815 H2B/j|H2BFJ histone 1, h2bh protein-coding 1312785 HIST1H2BI histone cluster 1, H2bi Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8346 NM_003525,NG_001335,AF531292,AL031777,CH471087,Z80782,BC101653,BC101655 NP_003516,AAN06692,EAW55554,CAB02544,AAI01654,AAI01656,P62807,ABZ92498 Hs.553506 H2B/k|H2BFK histone 1, h2bi protein-coding 1348596 HIST1H2BJ histone cluster 1, H2bj Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. 1580863 6647026,16916647,16713563,16627869,16319397,16307923,16283522,15019208,14657027,14574404,12860195,12757711,12686141,12477932,12408966,11859126,11709551,11689053,11080476,10384058,10064132,9566873,9439656,8620898,2917990,11799066 8970 NM_021058,NG_000827,AF531293,AL021807,CH471081,X00088,BC014312 NP_066402,AAN06693,CAA16949,EAX03080,EAX03081,EAX03082,CAA24950,AAH14312,P06899,Q96CF4 Hs.656567 H2B/r|H2BFR protein-coding 1353528 HIST1H2BK histone cluster 1, H2bk Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family. This gene is found in the histone microcluster on chromosome 6p21.33. 1580863 16916647,16713563,16627869,16457587,16319397,16307923,16283522,15951514,15635413,15489334,15019208,14657027,14574404,12860195,12757711,12477932,12408966,11859126,11689053,11080476,10384058,10064132,9710638,9566873,8620898,1768865 85236 NM_080593,NG_000827,AF531294,AL021807,CH471081,AJ223352,AK292062,BC000893,BC051872,BC064959,BC108737 NP_542160,AAN06694,CAA16945,EAX03084,EAX03085,CAA11276,BAF84751,AAH00893,AAH51872,AAH64959,AAI08738,O60814,ABZ92499 Hs.437275,Hs.689116 H2B/S|H2BFAiii|H2BFT|MGC131989 protein-coding 1316667 HIST1H2BL histone cluster 1, H2bl Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 1580863 9439656,16916647,16713563,16627869,16319397,16307923,16283522,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,10064132,9566873 8340 NM_003519,NG_000009,AF531295,AL009179,CH471081,Z83740,BC093759,BC093761 NP_003510,AAN06695,CAA15668,EAX03106,CAB06035,AAH93759,AAH93761,Q99880,ABZ92500 Hs.137594 H2B/c|H2BFC|dJ97D16.4 histone 1, h2bl protein-coding 1346747 HIST1H2BM histone cluster 1, H2bm Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 1580863 9439656,16916647,16713563,16457587,16319397,16307923,16283522,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,10064132,9566873 8342 BC067486,BC067487,BC067488,BC067489,NM_003521,NG_000009,AF531296,AL049822,CH471081,Z83738,BC066244,BC067485 AAH67486,AAH67487,AAH67488,AAH67489,Q0D2M2,Q99879,NP_003512,AAN06696,CAB81655,EAX03110,CAB06033,AAH66244,AAH67485 Hs.182432 H2B/e|H2BFE|dJ160A22.3 histone 1, h2bm protein-coding 1317658 HIST1H2BN histone cluster 1, H2bn Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 1580863 9439656,16916647,16713563,16627869,16307923,16283522,16189514,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,10064132,9566873 8341 Z98744,BC009783,BC011372,BC101411,BC101412,BC101413,NM_003520,NG_000009,AF531297,CH471081,Z83336 CAB11418,AAH09783,AAI01412,AAI01413,AAI01414,Q99877,ABM81954,ABM85133,NP_003511,AAN06697,EAX03114,EAX03115,EAX03116,EAX03117,CAB05938 Hs.673851 H2B/d|H2BFD|HIST1H3I|MGC125414|MGC125415|MGC125416|MGC9388 histone 1, h2bn protein-coding 1343166 HIST1H2BO histone cluster 1, H2bo Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 1580863 1768865,16916647,16713563,16627869,16319397,16307923,16283522,15635413,15489334,14657027,14574404,12757711,12477932,12408966,11689053,11080476,9566873,9439656 8348 NM_003527,NG_000009,AF531298,CH471081,X57138,BC106720 NP_003518,AAN06698,EAX03124,CAA40416,AAI06721,P23527,ABZ92501 Hs.673856 H2B.2|H2B/n|H2BFN|MGC119806|dJ193B12.2 histone 1, h2bo protein-coding 1344705 HIST1H2BPS1 histone 1, H2b, pseudogene 1 387318 1348661 HIST1H2BPS2 histone cluster 1, H2b, pseudogene 2 9031620 10340 NG_000009,X83547 H2BFIP|pH2B.i|pH2B/i pseudo 1345402 HIST1H3A histone cluster 1, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 11242053,11080476,10975519,10949293,10384058,9566873,9439656,9119399,1916825,14993289,14657027,14595808,12823900,12477932,12408966,11882902,11791185,11689053 8350 NM_003529,NG_001335,AF531274,CH471087,Z46261,BC066245,BC066246,BC066247,BC067490,BC067491,BC069303,CR541858 NP_003520,AAN10051,EAW55508,CAA86403,AAH66245,AAH66246,AAH66247,AAH67490,AAH67491,AAH69303,CAG46656,P68431 Hs.546315 H3/A|H3FA histone 1, h3a protein-coding 1347747 HIST1H3B histone cluster 1, H3b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 17194708,17189264,16916647,16678110,16627869,16497732,16457588,16372014,16267050,16246723,16185088,15983376,15951514,15684425,15681610,15525939,15489334,15471871,15345777,14657027,14574404,12560483,12477932,12408966,11856369,11791185,11689053,11242053,11080476,10975519,10464286,9566873,9439656,9119399,9031620,8227173,7309716,6647026,3013246,1916825 8358 NM_003537,NG_001335,AF531275,CH471087,M26150,X00090,BC069133,BC096132,BC096133,BC096134,BC099630 NP_003528,AAN10052,EAW55511,AAA52651,CAA24952,AAH69133,AAH96132,AAH96133,AAH96134,AAH99630,P68431 Hs.533292 H3/l|H3FL histone 1, h3b protein-coding 1348947 HIST1H3C histone cluster 1, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 15282608,14657027,12842904,12477932,12408966,11882902,11791185,11689053,11242053,11080476,10975519,10759893,9566873,9439656,9119399,8227173 8352 NM_003531,NG_001335,AF531276,CH471087,X57128,BC058834,BC127610 NP_003522,AAN10053,EAW55514,CAA40407,AAI27611,P68431 Hs.248176 H3.1|H3/c|H3FC histone 1, h3c protein-coding 1349026 HIST1H3D histone cluster 1, H3d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14702039,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8351 NM_003530,NG_001335,AF531277,AL031777,CH471087,Z80784,BC031333,BC033095,BQ051491 NP_003521,AAN10054,CAC03412,EAW55539,CAB02546,AAH31333,AAH33095,ABM83721,ABM87041 Hs.532144 H3/b|H3FB histone 1, h3d protein-coding 1351707 HIST1H3E histone cluster 1, H3e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 17052464,15664198,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,1916825 8353 NM_003532,NG_001335,AF531278,AL031777,CH471087,M60746,BC052981,CR542014 NP_003523,AAN10055,CAC03413,EAW55547,AAA63185,AAH52981,CAG46811,P68431,ABZ92502 Hs.443021,Hs.586261 H3.1|H3/d|H3FD histone 1, h3e protein-coding 1343932 HIST1H3F histone cluster 1, H3f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. 10949293,11242053,11791185,16415881,17353931,14657027,12823900,12540855,12477932,12408966,11689053,11080476,10975519,9566873,9439656,9119399,1916825 8968 NM_021018,NG_001335,AF531279,AL031777,CH471087,Z80786,BC062305,BC067492,BC069818,BC096131,CR541983,CR542011 NP_066298,AAN10056,CAC03416,EAW55551,CAB02548,AAH67492,AAH69818,AAH96131,CAG46780,CAG46808,P68431 Hs.247814 H3/i|H3FI protein-coding 1346430 HIST1H3G histone cluster 1, H3g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 9119399,16189514,14657027,12477932,12408966,11689053,11080476,9566873,9439656 8355 NM_003534,NG_001335,AF531280,AL031777,CH471087,Z80785,BC012185,BC079835 NP_003525,AAN10057,CAC03421,EAW55553,CAB02547,AAH12185,AAH79835,P68431,ABZ92503 Hs.247813 H3/h|H3FH histone 1, h3g protein-coding 1345148 HIST1H3H histone cluster 1, H3h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 16189514,14657027,12477932,12408966,11689053,11080476,9566873,9439656 8357 NG_000009,AF531281,AL009179,CH471081,Z83735,BC007518,BC096128,BC096129,BC096130,BC143046,BC148243,BC148250,NM_003536 NP_003527,AAN10058,CAA15670,EAX03108,CAB06030,AAH07518,AAH96128,AAH96129,AAH96130,AAI43047,AAI48244,AAI48251,P68431,ABZ92504 Hs.591778 H3/k|H3F1K|H3FK histone 1, h3h protein-coding 1322682 HIST1H3I histone cluster 1, H3i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9031620 8354 NM_003533,NG_000009,AF531282,CH471081,X83550,Z98744,BC066884,BC067493,BC067494,BC069305 NP_003524,AAN10059,EAX03120,CAA58540,CAB11424,AAH66884,AAH67493,AAH67494,AAH69305,P68431 Hs.132854 H3.f|H3/f|H3FF histone 1, h3i protein-coding 1349112 HIST1H3J histone cluster 1, H3j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12477932,12408966,11689053,11080476,11076863,9566873,9439656 8356 NM_003535,NG_000009,AF531283,CH471081,Z83737,Z98744 NP_003526,AAN10060,EAX03122,CAB06032,CAD24076,P68431,AAI11922 Hs.484990 H3/j|H3FJ histone 1, h3j protein-coding 1348994 HIST1H3PS1 histone 1, H3, pseudogene 1 387324 1315697 HIST1H4A histone cluster 1, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 15864311,14657027,12628926,12477932,12408966,11689053,11310559,11080476,9710638,9566873,9439656,9119399,3035717 8359 NG_001335,AY128654,CH471087,X60481,NM_003538,BC066248,BC066249,BC067495,BC069654 NP_003529,AAN01439,EAW55509,CAA43011,AAH66248,AAH66249,AAH67495,AAH69654,P62805,ABZ92505 Hs.248178 H4/a|H4FA histone 1, h4a protein-coding 1342856 HIST1H4B histone cluster 1, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,1916825 8366 NM_003544,NG_001335,AY128655,CH471087,X67081,BC069467 NP_003535,AAN01440,EAW55510,CAA47464,AAH69467,P62805 Hs.143080 H4/I|H4FI histone 1, h4b protein-coding 1352928 HIST1H4C histone cluster 1, H4c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,7626218,15556009 8364 NM_003542,NG_001335,AY128656,CH471087,X60486,BC054014,BC130558,BC130560 NP_003533,AAN01441,EAW55528,CAA43016,AAH54014,AAI30559,AAI30561,P62805,ABZ92506 Hs.46423 H4/g|H4FG|dJ221C16.1 histone 1, h4c protein-coding 1347367 HIST1H4D histone cluster 1, H4d Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 15504738,14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399,3035717 8360 NM_003539,NG_001335,AL353759,AY128657,CH471087,X60482,BC128104,BC143045 NP_003530,CAC04128,AAN01442,EAW55538,CAA43012,AAI28105,AAI43046,P62805,AAI56843 Hs.248179 H4/b|H4FB|HIST1H4F|dJ221C16.9 histone 1, h4d protein-coding 1316645 HIST1H4E histone cluster 1, H4e Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8367 NM_003545,NG_001335,AL031777,AY128658,CH471087,Z80787,BC012587,BC050615,BC056868,CR542180,CR542189 NP_003536,CAC03414,AAN01443,EAW55544,CAB02549,AAH12587,AAH50615,CAG46977,CAG46986,P62805,ABZ92507 Hs.662174 H4/j|H4FJ histone 1, h4e protein-coding 1354264 HIST1H4F histone cluster 1, H4f Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 15601853,15504738,15282608,14657027,9119399,3035717,1916825,12842904,12628926,12477932,12408966,11689053,11080476,10759893,9566873,9439656 8361 NM_003540,NG_001335,AL031777,AY128659,CH471087,M60749,BC069288,BC093763,BC093765 NP_003531,CAC03418,AAN01444,EAW55549,AAA63188,AAH69288,AAH93763,AAH93765,P62805,ABM83531,ABM86771 Hs.247816 H4|H4/c|H4FC histone 1, h4f protein-coding 1350829 HIST1H4G histone cluster 1, H4g Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 1580863 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8369 NM_003547,NG_001335,AL031777,AY128660,CH471087,Z80788,BC126276,BC126278 NP_003538,CAB39187,AAN01445,EAW55550,CAB02550,AAI26277,AAI26279,Q99525 Hs.553507 H4/l|H4FL histone 1, h4g protein-coding 1314497 HIST1H4H histone cluster 1, H4h Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9119399 8365 NG_001335,AL021917,NM_003543,AY128661,CH471087,X60487,BC010926,BC120939,CR542169,CR542187 NP_003534,CAC69642,AAN01446,EAW55555,CAA43017,AAH10926,AAI20940,CAG46966,CAG46984,P62805,ABM83716,ABM87036 Hs.591790 H4/h|H4FH histone 1, h4h protein-coding 1342673 HIST1H4I histone cluster 1, H4i Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. 15504738,15489334,14657027,14574404,12477932,12408966,11689053,11080476,10384058,10064132,9566873,9439656,9119399,9031620,8988030,7626218,6314274,3340182,3035717,2474456,1916825,14743216,17081983,16916647,16807684,16678110,15782174 8294 NM_003495,NG_000827,AB000905,AL021807,AY128662,CH471081,BC016336,BC066250,BC067496,BC067497,BC075806,CR599017 NP_003486,BAA19208,CAA16946,AAN01447,EAX03086,AAH16336,AAH66250,AAH67496,AAH67497,AAH75806,P62805 Hs.248172 H4/m|H4FM|H4M histone 1, h4i protein-coding 1315785 HIST1H4J histone cluster 1, H4j Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,6265100 8363 NM_021968,NG_000009,AL049822,AY128663,CH471081,X60484,BC017361 NP_068803,CAC03427,AAN01448,EAX03111,CAA43014,AAH17361,P62805,AAI40250,AAI46524 Hs.278483 H4/e|H4F2iv|H4FE|MGC29783|dJ160A22.2 histone 1, h4j protein-coding 1349552 HIST1H4K histone cluster 1, H4k Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12408966,11689053,11080476,9566873,9439656 8362 NM_003541,NG_000009,AL049822,AY128664,CH471081,X60483 AAI48486,AAI53082,NP_003532,CAC03426,AAN01449,EAX03112,CAA43013,P62805 Hs.528055 H4/d|H4F2iii|H4FD|dJ160A22.1 histone 1, h4k protein-coding 1318739 HIST1H4L histone cluster 1, H4l Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. 14657027,12477932,12408966,11689053,11080476,9566873,9439656,9031620 8368 NM_003546,NG_000009,AY128665,CH471081,X83548,Z98744,BC069392 NP_003537,AAN01450,EAX03121,CAA58538,CAD24074,AAH69392,P62805 Hs.533295 H4.k|H4/k|H4FK histone 1, h4l protein-coding 1348139 HIST1H4PS1 histone cluster 1, H4, pseudogene 1 9439656 10337 NG_000009,AL009179,X60485 H4FFP|dJ97D16.3|pH4/f pseudo 1316194 HIST2H2AA3 histone cluster 2, H2aa3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. 16710414,16702407,16457589,16359901,16319397,15823041,15635413,15527963,15489334,15386022,15078818,15010469,14759373,14657027,12477932,12408966,11689053,11375490,11181995,11080476,9566873,9439656,8858345,8543049,8179821,6326092,2071153,12628926,16189514 8337 NM_003516,NG_005594,AL591493,AY131971,CH878687,K01889,BC001629,BC019308,BC096705,BC096739,BC098171,CR536525,CR541872,L19779 NP_003507,CAI12562,AAN59957,EAW50859,AAA35945,AAH01629,AAH19308,AAH96705,AAH96739,AAH98171,CAG38762,CAG46670,AAC24465,Q6FI13,AAI52788 Hs.530461 H2A|H2A.2|H2A/O|H2A/q|H2AFO|H2a-615|HIST2H2AA histone 2, h2aa protein-coding 1604408 HIST2H2AA4 histone cluster 2, H2aa4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. 15527963,12477932,12408966,2071153 723790 NM_001040874,NG_005594,AL591493,BC001629,BC019308,BC096739,BC098171,CR536525,CR541872,L19779,BC096705 NP_001035807,CAI12565,AAH01629,AAH19308,AAH96705,AAH96739,AAH98171,CAG38762,CAG46670,AAC24465 Hs.530461,Hs.706714 H2A/R protein-coding 1350646 HIST2H2AB histone cluster 2, H2ab Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. 1580863 16710414,16702407,16359901,15823041,15386022,15078818,15010469,14657027,12408966,11689053,11080476,9566873,11927591 317772 NM_175065,AL591493,AY131972,CH471121 NP_778235,CAI12570,AAN59958,EAW53603,Q8IUE6 Hs.664173 protein-coding 1353344 HIST2H2AC histone cluster 2, H2ac Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a member of the histone H2A family. 1580863 18206972,16710414,16702407,16473935,16457589,16359901,16319397,15823041,15527963,15489334,15386022,15078818,15010469,14657027,12786946,12628926,12477932,12408966,12072557,11689053,11080476,10096020,9566873,9439656,1469070,11927591 8338 NM_003517,AL591493,AY131973,AY648852,CH471121,X57985,BC060324 NP_003508,CAI12569,AAN59959,AAT68255,EAW53604,CAA41050,AAH60324,Q16777,ABZ92508 Hs.408067 H2A|H2A-GL101|H2A/q|H2AFQ|MGC74460 protein-coding 1345343 HIST2H2BA histone cluster 2, H2ba 12477932,12408966 337875 NG_002621,AL357493,AY131975,BC106916,BC126904 AAI06917,AAI26905,Q3KP43 Hs.585427 MGC126029|MGC126031 pseudo 1344053 HIST2H2BB histone cluster 2, H2bb 12408966 338391 NG_002652,AL357493,AY131976 histone 2, h2bb pseudo 1354148 HIST2H2BC histone cluster 2, H2bc 16916647,16283522,15527963,12757711,12408966 337873 NG_005594,AL591493,AY131977,AY648853,AY656810 AAT68256,AAT72343,Q6DN03,Q6DRA6 H2B/t|HIST2H2BD pseudo 1350930 HIST2H2BD histone cluster 2, H2bd 15527963,12408966 337874 NG_005594,AL591493,AY131978,AY648853 H2B/s pseudo 1343213 HIST2H2BE histone cluster 2, H2be Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. 1580863 1469070,17353931,18206972,17074886,16916647,16713563,16710414,16627869,16457587,16307923,16283522,15635413,15601853,15489334,15019208,14702039,14657027,12888554,12860195,12786946,12757711,12628926,12489984,12477932,12408966,11859126,11824786,11689053,11375490,11310559,11266453,11241673,11080476,10821277,10022855,9973324,9973250,9748265,9724719,9710638,9651585,9566873,9325046,8620898,8180162,1993178 8349 NM_003528,AL591493,AY131979,CH471121,X57985,AK093747,AK289725,BC005827,BC069193,BC096121,BC098112,BC098289,BC107084,BC107085,CR541895,CR615793,M60756 NP_003519,CAI12568,AAN59961,EAW53605,CAA41051,BAF82414,AAH05827,AAH69193,AAH96121,AAH98112,AAH98289,AAI07085,AAI07086,CAG46693,AAA63192,Q16778 Hs.2178 GL105|H2B|H2B.1|H2B/q|H2BFQ|MGC119802|MGC119804|MGC129733|MGC129734 histone 2, h2be protein-coding 1603451 HIST2H2BF histone cluster 2, H2bf 16916647,16713563,16710414,16319397,16307923,16283522,15489334,12757711,12477932 440689 NM_001024599,AL591493,AK289664,BC110793 NP_001019770,CAI12558,BAF82353,AAI10794,Q5QNW6 Hs.632451 MGC131639 protein-coding 1342896 HIST2H3A histone cluster 2, H3a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. 17353931,17194708,16916647,16829960,16829959,16710414,16678110,16627869,16497732,16267050,16185088,15684425,15681610,15527963,15525939,15489334,15471871,15345777,12560483,12489984,12477932,12408966,11856369,11242053,10523658,10464286,7309716,6494913,3013246,17189264 333932 NM_001005464,NG_005594,AF531305,AL591493,AY648851,BC015544,BC074969,BC130635,BC130637 NP_001005464,CAI12566,AAT68254,AAH74969,AAI30636,AAI30638,Q71DI3 Hs.647745,Hs.701828 H3/n|H3/o protein-coding 1354031 HIST2H3B histone cluster 2, H3b 12408966 333931 NG_002616,AF531306 HIST2H3PS1 pseudo 1349967 HIST2H3C histone cluster 2, H3c Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. 1580863 17353931,17194708,17189264,16916647,16710414,16678110,16627869,16497732,16362057,16267050,16189514,16185088,15684425,15681610,15527963,15525939,15489334,15471871,15345777,14657027,12628926,12560483,12477932,12408966,11856369,11689053,11509556,11242053,11080476,10464286,10384058,9566873,9439656,8814229,7309716,6494913,3013246,12482968,12419249 126961 NM_021059,NG_005594,AF531307,AL591493,BC015544,BC074969,BC130635,BC130637 NP_066403,AAN39283,CAI12561,AAH74969,AAI30636,AAI30638,Q71DI3,AAI48479,AAI53075 Hs.647745,Hs.706618 H3|H3.2|H3/M|H3F2|H3FM|MGC9629 histone 2, h3c protein-coding 1604125 HIST2H3D histone cluster 2, H3d 653604 XM_497711,NM_001123375,AL591493 XP_497711,NP_001116847,CAI12559 protein-coding 1603452 HIST2H3PS2 histone cluster 2, H3, pseudogene 2 17194708,17189264,16916647,16710414,16678110,16627869,16497732,16267050,16185088,15684425,15681610,15527963,15525939,15489334,15471871,15345777,12560483,12477932,12408966,11856369,11242053,10464286,7309716 440686 AL109948,BC073925 CAI23568,AAH73925,Q6GMR5 Hs.628485 MGC126031 pseudo 1346198 HIST2H4A histone cluster 2, H4a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. 15823041,15527963,15345777,14993289,14657027,14595808,12861021,12628926,12556504,12477932,12408966,11790298,11689053,11163245,11080476,10096020,9566873,9439656,9325046,8814229,7675449,6494913,6314274,3035717,14743216,11799066 8370 NM_003548,NG_005594,AF525682,M16707,X00038,BC019846,BC093969,BC108260,BC112193 NP_003539,AAM83108,AAA52652,CAA24918,AAH93969,AAI08261,AAI12194,P62805,AAI46449,AAI53064 Hs.55468,Hs.655235 FO108|H4|H4/n|H4F2|H4FN|HIST2H4 histone 2, h4 protein-coding 1605451 HIST2H4B histone cluster 2, H4b Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. 3035717,15933069,17540172,17666011,15504738,16166375,16131487,15823041,15527963,12556504,12477932,12408966,6494913 554313 NM_001034077,NG_005594,AL591493,BC019846,BC093969,BC108260,BC112193 NP_001029249,CAI12567,AAH93969,AAI08261,AAI12194,P62805 Hs.55468,Hs.655235,Hs.706635 H4/o protein-coding 1320935 HIST3H2A histone cluster 3, H2a Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. 16710414,16702407,16359901,16189514,15823041,15489334,15386022,15078818,15010469,14657027,12477932,12408966,11689053,11080476,9566873,12786946 92815 NM_033445,AL139288,AY131974,CH471098,BC001193,BC082269 NP_254280,CAI23331,AAN59960,EAW69878,AAH01193,AAH82269,Q7L7L0 Hs.26331,Hs.700190 MGC3165 protein-coding 1343698 HIST3H2BA histone cluster 3, H2ba 12408966 337872 NG_002618,AL139288,AY131980 pseudo 1312718 HIST3H2BB histone cluster 3, H2bb Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. 1580863 16916647,16878981,16713563,16710414,16627869,16319397,16307923,16283522,15489334,15010469,14731392,14702039,14657027,12757711,12477932,12408966,11689053,11080476,10469656,9566873,10405893,8647104,14595808 128312 NM_175055,AL139288,AY131981,CH471098,AK091220,BC100855,BC100856,BC100857,BC100858 NP_778225,CAI23330,AAN59962,EAW69879,BAC03613,AAI00856,AAI00857,AAI00858,AAI00859,Q8N257 Hs.376691 histone 3, h2bb protein-coding 1317808 HIST3H3 histone cluster 3, H3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is located separately from the other H3 genes that are in the histone gene cluster on chromosome 6p22-p21.3. 1580863 16354694,16127177,15922600,15782174,15664198,15635413,15620353,15489334,15235609,14993289,14718166,14657027,14633678,14594813,12789342,12786946,12773393,12577067,12540855,12514135,12489984,12477932,12408966,12389038,17537733,17567753,18281699,18048344,17320048,16710414,12372304,12123582,11959841,11864602,11850410,11824786,11779497,11689053,11602260,11310559,11266453,11163245,11080476,10926844,10911985,10523658,10469656,10436156,10022855,9748265,9710638,9651585,9566873,9439656,9325046,8986613,8980232,8834248,8798650,3697355,15611041,12482968,15019994,15546622,15345777,15469825,15674330,15619633,14595808,15680324,15494311 8290 NM_003493,AF531308,AL139288,CH471098,Z49861,BC069079,BC101837,BC101839,CR542013 NP_003484,AAN39284,CAI23333,EAW69877,CAA90020,AAH69079,AAI01838,AAI01840,CAG46810,Q16695 Hs.248171 H3.4|H3/g|H3FT|H3t|MGC126886|MGC126888 histone 3, h3 protein-coding 1346703 HIST4H4 histone cluster 4, H4 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. 3035717,15933069,17540172,17666011,15504738,17848202,17548343,17522015,16782888,16531610,16469925,16322686,16177192,16131487,15664198,15527963,15345777,15095300,15010469,14731392,14657027,14578449,12786946,12489984,12477932,12408966,12385581,12072557,11689053,11498536,11266453,11080476,10926844,10022855,9651585,9566873,12015309,11959841,12590135,15992539,15864311,15834423,15710329,15019994,15546622,15765097,15469825,8647104,15688037,15688035,15616580,15502823,14595808,15674325 121504 NM_175054,AC010168,AY128653,AY648850,CH471094,BC020884,BC111093,BC111434 NP_778224,AAN01438,AAT68253,EAW96325,AAH20884,AAI11094,AAI11435,P62805,Q0VAS5,Q6B823 Hs.352191,Hs.528055 H4/p|MGC24116 histone 4, h4 protein-coding 1347918 HIVE1 human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1 3095 GDB:120043 736425 HIVEP1 human immunodeficiency virus type I enhancer binding protein 1 Members of the ZAS family, such as ZAS1 (HIVEP1), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2004).[supplied by OMIM] 1580863 2106471,16713569,16582099,15302935,15231748,12477932,8289330,7650680,2504707,2248949,2108316,2037300,1727488,1694016,1567844 3096 NM_002114,AL137221,AL157373,AL391828,CH471087,Z98050,AY673640,BC028111,BC140816,CA430819,J05011,M32019,X51435 NP_002105,CAI14768,CAI14769,CAH73982,CAH73983,CAH73909,CAH73910,EAW55309,EAW55310,EAW55311,EAW55312,CAI21070,CAI21071,AAV85766,AAI40817,AAA17533,AAA17534,CAA35798,P15822,Q5MPB1,Q5VW59,Q5VW60,Q82133 Hs.567284 GDB:127781 CIRIP|CRYBP1|MBP-1|PRDII-BF1|ZAS1|ZNF40 human immunodeficiency virus type i enhancer-binding protein 1 protein-coding 734342 HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 Members of the ZAS family, such as ZAS2 (HIVEP2), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2004).[supplied by OMIM] 1580863 2022670,2247438,16344560,14574404,12477932,10642512,10207097,8889549,1733857,1409593 3097 NM_006734,AF153836,AL023584,AL355304,AL355307,CH471051,M60119,AA041301,AA465317,AK226163,AW197846,BC032679,CR936782,DA216380,DQ231041,M61744,X65644 NP_006725,AAF81365,CAA19042,EAW47873,AAB88218,ABB16331,AAA36202,CAA46596,P31629,Q38G99 Hs.510172 GDB:129086 HIV-EP2|MBP-2|MIBP1|SHN2|ZAS2 human immunodeficiency virus type 1 enhancer-binding protein 2 protein-coding 1322610 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 Members of the ZAS family, such as ZAS3 (HIVEP3), are large proteins that contain a ZAS domain, a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine -rich sequence. These proteins bind specific DNA sequences, including the kappa-B motif (GGGACTTTCC), in the promoters and enhancer regions of several genes and viruses, including human immunodeficiency virus (HIV). ZAS genes span more than 150 kb and contain at least 10 exons, one of which is longer than 5.5 kb (Allen and Wu, 2004).[supplied by OMIM] 15790681,17388942,15627499,14999091,14707112,14702039,11804591,11161801,10997877,2247438 59269 NM_024503,AC105268,AC119676,AF278766,AL356455,AL445933,AL451006,CH471059,AB046775,AF278765,AK122991,BC152563,M61743 NP_078779,CAI14537,CAI14538,EAX07173,BAB13381,AAK01082,AAI52564,AAA36137,Q5T1R4,Q99302 Hs.648369 GDB:10796965 FLJ16752|KBP-1|KBP1|KIAA1555|KRC|SHN3|ZAS3 protein-coding 2292108 HJURP Holliday junction recognition protein 17823411,12477932 55355 NM_018410,AC005538,CH471063,AB101211,AB162218,AK074809,AL162048,BC001940,BE535238,BM148072,BM475244,BQ225710,CA441903,CR594599,CR621677 NP_060880,EAW71064,EAW71065,BAF82039,BAD36741,BAC11221,CAB82391,AAH01940,Q8NCD3 Hs.532968 DKFZp762E1312|FAKTS|URLC9|hFLEG1 protein-coding 737450 HK1 hexokinase 1 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. 1601527,1601519,1300048 15489334,15164054,14702039,12477932,12432216,12393545,10978502,10686099,10574795,10356311,9735292,9531504,9450953,9414310,9028305,8722688,8720117,8706938,8420959,7655856,6848140,2297576,2059200,1985912,1637300,1572668,16189514,9493266,3207429,18212354,17494625,17080299,16344560,16169070,16166083 1601527,1601519 3098 X66957,NM_033498,NM_033497,NM_033496,NM_000188,AC016821,AF016349,AF016365,AF029305,AF029306,AF163908,AF163909,AF163910,AF163911,AF163912,AF163913,AL596223,AL672126,CH471083,NM_033500,AB209526,AF073786,AK091267,AK128226,AK292012,BC008730,BX406321,CR598171,CR601325,CR605003,CR608450,DB088955,M75126,U38226,U38227,U38228 CAA47379,P19367,P78542,Q59FD4,Q5VTC4,Q5VTC5,Q5VTC6,Q71V75,Q99609,ABM84207,ABM87761,NP_277035,NP_277033,NP_277032,NP_277031,NP_000179,AAC15863,AAC15862,AAF82319,AAF82320,AAC00173,AAC00172,CAH71502,CAH71504,CAH71505,CAH71506,EAW54319,EAW54320,EAW54321,EAW54322,EAW54323,BAD92763,AAC25424,BAF84701,AAH08730,AAA52646,AAB40527,AAB40528,AAB40529 Hs.707980 GDB:120044 HK1-ta|HK1-tb|HK1-tc|HKI|HXK1 protein-coding 733090 HK2 hexokinase 2 Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. 1580863,1624365,632917,1300048 9278438,7622509,18271924,17785433,16713569,16551620,16396496,16189514,15967114,15710218,15489334,14747281,14672622,12663490,12477932,11688991,11068878,9447955,9056853,8889548,8786021,8567628,8307259,8250948,7883123,7883122,7883120,7518342 1624365,632917 3099 AC019069,AC104135,AY623118,CH471053,D25412,Z46354,Z46360,AF086198,AF148513,AI085541,AI278414,AK290357,AW134604,NM_000189,BC021116,BC064369,BM706373,BM912287,CB160837,CR600120,CR749202 NP_000180,AAX93084,AAY24209,AAT38114,EAW99601,EAW99602,EAW99603,BAA04999,CAA86476,CAA86482,AAD30174,BAF83046,AAH21116,AAH64369,CAH18060,P52789,Q09LL6,Q53QX9,Q53SG7,Q68E10,Q7Z7Q6,ABM86696,ABW03812 Hs.406266,Hs.591588 GDB:137213 DKFZp686M1669|HKII|HXK2 protein-coding 1351995 HK2P hexokinase 2 pseudogene 7999069,7590357 3100 U28387 GDB:439287 pseudo 736939 HK3 hexokinase 3 (white cell) Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. 1580863,1300048 12543931,12488461,12477932,11068878,9468341,8941369,8812439,8717435,7150652,4058069,1190733,16189514 3101 NM_002115,AC027318,CH471195,L37749,BC028129,U42303,U51333,AB208951 NP_002106,EAW85047,EAW85048,EAW85049,AAB03512,AAH28129,AAC50422,AAC50732,P52790,Q16779,Q59H08,Q8N1E7,BAD92188,ABM82004,ABM85186 Hs.411695 GDB:137214 HKIII|HXK3 hexokinase 3 protein-coding 1354446 HKDC1 hexokinase domain containing 1 14702039,12477932 80201 NM_025130,AL596223,CH471083,AK026414,AK095086,AK291024,BC012337,BC021278,BC069201,BC110504,BC110505,BX538078 NP_079406,CAH71500,EAW54317,EAW54318,BAB15478,BAF83713,AAH12337,AAH21278,AAI10505,AAI10506,CAD98002,Q2TB90 Hs.522988 FLJ22761|FLJ37767|MGC125688 protein-coding 1344548 HKR1 GLI-Kruppel family member HKR1 1580863 2850480,15489334,14702039,12477932,9813242,9373149,8812445,8125298 284459 BC053845,NM_181786,AC008806,AC016590,CH471126,M20675,AB013897,AK056243,AK128116,AK223616,BC004513,BC010024,BC017256 AAH53845,P10072,Q53EM3,Q6PJD0,NP_861451,EAW56721,EAW56722,EAW56723,EAW56724,EAW56725,EAW56726,BAA86058,BAD97336,AAH04513,AAH17256,Q7Z6E1 Hs.657027 GDB:120045 protein-coding 1349444 HLA-A major histocompatibility complex, class I, A HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. 1580863 1431115,2437024,2715640,6609814,8188325,12414957,17353931,15569716,18486765,18458507,18451182,18434400,18399156,18396213,18385790,18381784,18370845,18359130,18347914,18344933,18340360,18332066,18320121,18301962,18295677,18273034,18256425,18241227,18240960,18236804,18223493,18201363,18194915,18190553,18186801,18093280,18088468,18086267,18085998,18082573,18078206,18074415,18070207,18069934,18065518,18064508,18057683,18035044,18022727,18004301,18001297,17997746,17989838,17989341,17971052,17971048,17964196,17961775,17956696,17927716,17924859,17922429,17911430,17909631,17900288,17891921,17869653,17853492,17845299,17825227,17785583,17763415,17726164,17719062,17715334,17701131,17668896,17662350,17662002,17661908,17653284,17652849,17630352,17629023,17624664,17610418,17609824,17604825,17603847,17584771,17578051,17573956,17554059,17546694,17509453,17509091,17504510,17498269,17493347,17491685,17489060,17487448,17471440,17462512,17462511,17460569,17458393,17437273,17433060,17429413,17428358,17407088,17389024,17389023,17389019,17388919,17383044,17378697,17373939,17360168,17349876,17317585,17311253,17306585,17299710,17290883,17288808,17284222,17258541,17257318,17243956,17234427,17227111,17215337,17212710,17212707,17209778,17207712,17186951,17182537,17142892,17142764,17142760,17117954,17106278,17102800,17101473,17062033,17055361,17026471,17021767,16969539,16969536,16948651,16948650,16926287,16922942,16916654,16893386,16883565,16878186,16866891,16866885,16866883,16857416,16786814,16731854,16720216,16704965,16702430,16698425,16675560,16671946,16611249,16609350,16608404,16604503,16583211,16538176,16533342,16532100,16493087,16481299,16473309,16463424,16459714,16456803,16456797,16451204,16451199,16451198,16441495,16441494,16441493,16441492,16441491,16441487,16441486,16405603,16386651,16386646,16365741,16361713,16343061,16331510,16322289,16310048,16307312,16305683,16267409,16235173,16216678,16216676,16215957,16215732,16185849,16185336,16185330,16185329,16185325,16174649,16173256,16156661,16143070,16129034,16120569,16113298,16103458,16101834,16101833,16095491,16086925,16053028,16041067,16029435,16029431,16019679,15983206,15982259,15982258,15982254,15975271,15968843,15940053,15935891,15896206,15896205,15884673,15858601,15854278,15853906,15853904,15853903,15853898,15847654,15836703,15809757,15807454,15793795,15787723,15784468,15772003,15743917,15740492,15726104,15701833,15683420,15681828,15666025,15662734,15640334,15631661,15629059,15621102,15613143,15607698,15596859,15567775,15555263,15554365,15546341,15534563,15498100,15496201,15496200,15491536,15489334,15483462,15480178,15471368,15459953,15455355,15385740,15362660,15361135,15361126,15323271,15323134,15321756,15314693,15307871,15304010,15301866,15301865,15280452,15275783,15251317,15245541,15245377,15245373,15243926,15239092,15236755,15228651,15220037,15215855,15211110,15202948,15191952,15191527,15166527,15144462,15140038,15140031,15131131,15128924,15128805,15124939,15122136,15113995,15100263,15086350,15072129,15070694,15061705,15057902,15046556,15034213,15009808,15009803,15009432,15000695,14989713,14969772,14871250,14748996,14727382,14722266,14705987,14700599,14700598,14700597,14700596,14693734,14686115,14674935,14673570,14656748,14651518,14648147,14617038,14617036,14601650,14595379,14581545,14574404,14527733,14527201,14522093,14510801,14504973,14501786,12975536,12974801,12956878,12956877,12941076,12917841,12897781,12866921,12859597,12859593,12857887,12853576,12850493,12826378,12826374,12825172,12811505,12803653,12774051,12768083,12753667,12753666,12753657,12717621,12714268,12694583,12694575,12691707,12665835,12651075,12648281,12594841,12590984,12584329,12578601,12574360,12574356,12516093,12507828,12507825,12507823,12507820,12486606,12486530,12477932,12472661,12472660,12472657,12464650,12459502,12458337,12445319,12445318,12445315,12443029,12437654,12392856,12372094,12370503,12370085,12366790,12366789,12366788,12366787,12351949,12296785,12186703,12174215,12168074,12145797,12144627,12144620,12135434,12121673,12115193,12100686,12100571,12077441,12047355,12043563,12029127,12028542,12028541,12010826,12006494,11984513,11979305,11956863,11953475,11929590,11927505,11914421,11904677,11903375,11887210,11862383,11861287,11841366,11840504,11840200,11752149,11751963,11737038,11703829,11678832,11600222,11556985,11556980,11556970,11543903,14563323,14551034,11543893,11543892,11507979,11502003,11485622,11480844,11464148,11423179,11423176,11390610,11390039,11374682,11294566,11285128,11285127,11266078,11261925,11260507,11260506,11260503,11208333,11182232,11182228,11181188,11180452,11169262,11169245,11169242,11169240,11163199,11144289,11133384,11120862,11119299,11118029,11098929,11082518,11064107,11053636,11034565,11010837,10954160,10929804,10885567,10885562,10866116,10852390,10809759,10803837,10777102,10746793,10746792,10746555,10727083,10715516,10703613,10689125,10600013,10593938,10557312,10519371,10519370,10508608,10458329,10435578,10395114,10395112,10395108,10372543,10082434,10079303,9840288,9751712,9714480,9684994,9634481,9586631,9550335,9545232,9531263,9510377,9459513,9438203,9349617,9349616,9271829,9271640,9243762,9177355,9164942,9104816,9008316,9008310,8955188,8906788,8896181,8896177,8881046,8881043,8881042,8838351,8816400,8805302,8795145,8795143,8769474,8760804,8647853,8617928,8537110,8493575,8475492,8284791,8168863,8026990,8016845,7862664,7836067,7761977,7759309,7759139,7652742,7621073,7482497,7005335,6591601,6585830,6549041,6333425,6332068,6304688,6241835,6179086,3905837,3877632,3874058,3863816,3701253,3497874,3496393,3489037,3375250,3309677,3258580,3121736,2997032,2993417,2987115,2982951,2941417,2914713,2783680,2478623,2461903,2460344,2457548,2450922,2448239,2447579,2431040,2320591,2251137,2139695,2081843,2038058,1940790,1937577,1782566,1729171,1692821,1613456,1589035,1559719,1448154,1448153,1317015,1055432,93026,92029,72068,8084338,17116886,11932387,10546855,9120272,8877415,8671651,2789433,9373217,7913356,10799863,1316930,17077296,16987968,16979207,16272310,16091223,15638726,12734410,8612235,12427289,9263011,7539755,16847125,16365153,15262497,15611225,12097566,16000390,14557639,11396948,15078178,12502873,9971776,11438519,12884192,12482663,16684552,16454711,16354571,15194762,15653685,15854903,15878340,10403641,9123874,11602047,11500821,10707087,12526811,11289809,11578695,9586638,9052838,10684310,14965316,12836198,11463741,10982373,10366557,9582271,16189514,15383281 3105 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48005,DQ780570,EF078984,EF092416,EF173479,EU189866,K02883,L47206,L48341,L77702,L78918,M15634,M16010,M17690,M19670,M20139,M20179,M24043,M30578,U02934,U02935,U02936,U03861,U03862,U03863,U41844,U56435,U56437,U59700,U59702,U70863,U76399,U83588,U88250,U89946,U89947,U90139,U90178,U90179,U90243,U91628,X00492,X03070,X03071,X55710,X82161,Y09218,Y10695,Y12469,Y12470,Y17000,Y17001,Y17291,Y17292,Z72422,Z72423,Z93949,Z97027,Z97370,AB209117,AF008933,AF012766,AF012767,AF015930,AF036921,AF116214,AF116215,AF140506,AF165065,AF217561,AF287958,AF287959,AF305699,AJ000661,AJ001269,AJ001274,AJ249241,AJ290394,AJ580771,AK125608,AL566368,AY191309,AY191310,AY225407,AY365426,AY856830,BC003069,BC008611,BC019236,CR590089,CR590229,CR590761,CR591238,CR592438,CR593473,CR593532,CR593771,CR596197,CR596736,CR597883,CR598559,CR598869,CR600122,CR600696,CR601516,CR603931,CR604944,CR605111,CR605534,CR605752,CR605841,CR607566,CR608593,CR609975,CR610110,CR611177,CR611213,CR611534,CR612012,CR616547,CR619034,CR619049,CR619724,CR620975,CR621304,CR622028,CR622132,CR624725,CR625317,CR625955,D14350,D14351,D14354,D16841,D16842,D16843,D26550,D32129,D32130,D32131,D38525,D50068,D83515,DQ327718,DQ327719,DQ327720,DQ327721,DQ327722,DQ336693,DQ336694,DQ336695,L18898,L76936,M11887,M12377,M12758,M24042,M24095,M27537,M27538,M27539,M27971,M32321,M64740,M84375,M84377,M84378,M84379,M86404,M98453,U03697,U03754,U03907,U07161,U18930,U25971,U32184,U36914,U41057,U43334,U43335,U43336,U45480,U50574,U52429,U83415,X02457,X13111,X13112,X57954,X60108,X60764,X61700,X61703,X61704,X61711,X91399,X94566,X94567,X94568,X94570,X94572,X94573,X96638,X96724,X97802,Y08275,Y11441,Y13028,Y13267,Y17224,Z23071,Z27120,Z46633,U56825 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80,CAA62745,CAA65442,CAA65501,CAA66389,CAA69599,CAA72245,CAA73473,CAA73716,CAB38056,CAB38057,CAA80612,CAA81644,CAA86602,A0EVJ8,A0EVJ9,A0EVK0,A0FKC6,O02860,O02922,O02968,O15506,O19520,O19521,O19558,O19559,O19560,O19561,O19562,O19600,O19601,O19602,O19603,O19604,O19607,O19608,O19609,O19610,O19611,O19612,O19613,O19618,O19620,O19633,O19642,O19671,O19672,O19689,O19690,O19796,O19797,O43828,O46852,O46853,O62891,O62892,O62920,O62923,O78081,O78085,O78086,O78096,O78126,O78168,O78209,O98007,O98008,O98012,P01891,P01892,P04439,P05534,P10314,P10316,P13746,P16189,P18462,P30443,P30450,P30453,P30455,AAB08574,P30456,P30457,P30512,P78376,P79484,P79495,P79500 Hs.181244 GDB:119310 1643399 BMD5_H protein-coding 1352836 HLA-B major histocompatibility complex, class I, B HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. 1580863 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3106 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NP_005505,BAA82676,BAA82678,BAA84112,BAA84113,BAA84646,BAA84647,BAA85156,BAA88570,BAA88571,BAA88572,BAB18306,BAB64902,BAB64903,BAB64904,BAB64905,BAB64906,BAB64907,BAB62097,BAB71761,BAC02738,BAC02739,BAC02740,BAC02741,BAC54941,BAC11810,BAC11811,BAD13315,BAD13374,BAD13375,BAD13376,BAD13377,BAD13378,BAD27527,BAD27528,BAD27529,BAD27530,BAD27531,BAD29715,BAD29716,BAD29717,BAD29718,BAD29719,BAD29720,BAD30025,BAD30026,BAD30027,BAD30028,BAD30029,BAD30030,BAD30031,BAD30032,BAD36738,BAD77814,BAD77939,BAD77940,BAD82816,BAD82817,BAD88440,AAB66707,AAB66709,AAD46382,AAD46383,AAD46384,AAD46385,AAD46386,AAD46387,AAB65424,AAB67807,AAB67808,AAB67809,AAB67810,AAB67811,AAB67812,AAB67813,AAB67814,AAB67815,AAB67816,AAB67817,AAB67818,AAB67819,AAB67820,AAB67821,AAB67822,AAB67823,AAB67824,AAB67825,AAB67826,AAB67827,AAB67828,AAB94028,AAB69444,AAB80720,AAB80721,AAB80722,AAB80723,AAB70250,AAB70280,AAB70299,AAD04808,AAB84035,AAC33188,AAC33189,AAC13991,AAD01695,AAC32997,AAD02034,AAD02035,AAD02036,AAC17712,AAF24857,AAC32560,AAC25920,AAC08026,AAC32561,AAC32562,AAC32563,AAC14122,AAC14123,AAF08610,AAC67570,AAC32567,AAC32569,AAC32571,AAC32572,AAC18388,AAC18389,AAC18390,AAC18391,AAC35937,AAC35938,AAC26002,AAB70281,AAB70282,AAB70283,AAB70284,AAB70285,AAB70286,AAB70287,AAB70293,AAB70294,AAC14580,AAB70297,AAB70298,BAE78632,BAD95616,BAD95811,BAD95812,BAD99583,BAD99584,BAD98467,BAD98500,BAD99517,BAE19967,BAE78592,BAE78655,BAE92210,BAE92211,BAE93256,BAE93257,BAE93429,BAE93430,BAE95334,AAB62578,AAC14881,AAC14582,AAB62540,AAB62541,AAB66705,AAB66706,AAC35940,AAD28166,AAD28167,AAD28169,AAD28172,AAF05898,AAC79720,AAC79719,AAF29568,AAD19590,AAD19591,AAD19592,AAF43729,AAD27536,AAD27537,AAF14240,AAD23391,AAD23392,AAD23393,AAD23394,AAD23395,AAD23458,AAD23459,AAQ13554,AAF97848,AAF97849,AAF97850,AAF97851,AAF97413,AAF97847,AAF97852,AAF97853,AAF97854,AAF97855,AAF97856,AAD30276,AAD22265,AAD22266,AAD22267,AAD22273,AAD34472,AAD34473,AAD28787,AAD28786,AAD32680,AAD38675,AAD38676,AAD38677,AAD38678,AAF73123,AAF73145,AAF89550,AAF89555,AAD50969,AAD51971,AAD48506,AAD55793,AAD51743,AAD51744,AAD51746,AAF00932,AAF00934,AAB22522,AAB29305,AAD14426,AAD14427,AAC50171,AAA74045,AAA74046,AAC18816,AAC18817,AAB84306,AAB82055,AAB84307,AAB82056,AAB82304,AAB82331,AAB82332,AAB82333,AAA97481,AAB82306,AAB80619,AAB00197,AAB87723,AAB87725,AAB02607,AAB87726,AAB03574,AAB03576,AAB03577,AAB03588,AAB05925,AAB06739,AAB07699,AAB07700,AAC51850,AAB18131,AAC29503,AAB39106,AAB39107,AAB39109,AAB47480,AAB49760,AAB49761,AAB48492,AAB48493,AAB48498,AAB50150,AAB50143,AAB50144,AAB50145,AAB50146,AAF08604,AAF08605,AAF08606,AAF08607,AAF08608,AAB96790,AAB96791,AAB96792,AAB50151,AAB50244,AAB50245,AAB61335,AAB50417,AAF00974,AAF06165,AAF05596,AAF04283,AAF04580,AAF26305,AAF09480,AAF15274,AAG17140,AAQ13832,AAQ13833,AAF20812,AAF19393,AAF19394,AAF19424,AAF19425,AAF19426,AAF19428,AAF17097,AAF24484,AAF24485,AAF20156,AAF26413,AAF32321,AAF33238,AAF36682,AAF36714,AAF36715,AAF29555,AAF29556,AAF29558,AAF59417,AAF59418,AAG09772,AAF64507,AAF78047,AAG01275,AAF78048,AAK49187,AAF78053,AAF70327,AAF70328,AAF70329,AAF73064,AAF73065,AAF73067,AAF78080,AAF78083,AAF78089,AAF78090,AAF82300,AAG10154,AAD51748,AAF81600,AAF81601,AAF81602,AAF81609,AAG01820,AAG01821,AAG02198,AAF97609,AAF97610,AAB50418,AAB50419,AAB82057,AAC07913,CAA27302,CAA58698,CAA58706,CAA64227,CAA64228,CAA64229,CAA71137,CAA73021,CAA73022,CAA73900,CAA74916,CAA74949,CAA75059,CAB44775,CAB44776,CAC12861,CAC12862,CAC12863,CAC12864,CAA76612,CAA76681,CAA76682,CAB71933,CAB71937,CAA77102,CAA77103,CAA77193,CAA77194,CAA77241,CAA77242,CAB72096,CAA94390,CAK22320,BAA22916,AAB69158,AAC17467,AAB81828,AAC42275,AAD01961,AAF27539,AAD50968,AAF01052,AAG16246,AAL26324,AAL30409,AAL30410,AAL30411,AAL30412,AAL30413,AAL30414,AAL30415,AAL30417,CAA05678,CAA05679,CAA05680,CAA05834,CAB37868,CAA11468,CAB88037,AAG10067,AAG53943,AAG53946,AAG27467,AAG31646,AAK69594,AAG40883,AAG42271,AAG42274,AAG42278,AAG42279,AAG42280,AAG42281,AAG42282,AAK18185,AAK07652,AAK07653,AAK07654,AAK69632,AAK07662,AAK69671,AAK51092,AAK64459,AAK66765,AAK73082,CAG25407,BAF84915,CAJ86551,AAG02001,AAM50088,AAO34409,AAS79490,AAH07243,AAH13187,CAI46008,BAA06603,BAA08821,BAA08822,BAA08823,BAA08824,BAA08825,BAA08826,BAA08827,BAA11753,BAA13429,ABC59613,ABC59614,ABC59615,AAA36217,AAA59683,AAA18249,AAA36224,AAA56837,AAA56836,AAA56835,AAA56832,AAA56838,AAA56834,AAC37572,AAA65639,AAA73509,AAC41941,AAC41929,AAL77528,AAC41979,AAB59610,AAK97441,AAK97442,AAK97443,AAK97444,AAK97445,AAL04501,AAL73385,AAL01991,AAL01992,AAL01993,AAL01994,AAL01995,AAL08024,AAL35897,AAL78332,AAL77051,AAL84755,AAL87223,AAL87224,AAM12869,AAM16153,AAM89239,AAN16457,CAA05212,CAA06616,CAA07365,CAA07578,CAA07579,CAA08965,CAC11131,CAA10521,CAA10726,CAA10754,CAB37940,CAB37941,CAB37943,CAB76377,CAB39755,CAB39756,CAA11220,CAB40714,CAB40715,CAB42825,CAB41891,CAB43478,AAL77529,AAL77530,AAL77532,AAL77531,AAL77533,AAL77534,AAL77537,AAL77536,AAL77535,AAL31312,AAL40070,AAL40066,AAA96269,AAB59615,AAB59616,AAA96268,AAL40072,AAL40073,AAL40071,AAA59614,AAA59619,AAA59622,AAA59665,AAA59638,AAA53258,AAA53257,AAA57145,AAA36230,AAA36232,AAA36233,AAA59609,AAA59641,AAA59607,AAA59630,AAA03687,AAA61268,AAA61297,AAA58628,AAA61296,AAA60305,AAA59632,AAD13875,AAA50577,AAA18902,AAA03601,AAA87397,AAA87398,AAA92997,AAA17373,AAB41946,AAF70855,AAA19922,AAA19924,AAA19925,AAA19926,AAA19927,AAA19928,AAA19929,AAB60349,AAB60350,AAB02169,AAA56782,AAB60357,CAB43479,CAC12866,CAC12867,CAC12868,CAC12869,CAC12870,CAC12871,CAB46484,CAB50864,CAB50865,CAB69069,CAB57307,CAB56342,CAB57302,CAB57303,CAC12874,CAC12875,CAC12876,CAB61432,CAB61433,CAB94225,CAB94226,CAB94227,CAB96182,CAB71145,CAC88113,CAB98264,CAB98265,CAB98266,CAB86194,CAB86195,CAB86196,CAB91090,CAB92313,CAB92322,CAB95704,CAC01694,CAC01695,CAC00639,CAC01612,CAC05371,CAC27238,CAC33440,CAC08201,CAC03611,CAC12838,CAC12837,CAC17462,CAC17136,CAC18875,CAB99312,CAC21574,CAC18675,CAC16172,CAC16173,CAC21498,CAC21575,CAC15502,CAC24484,CAC20461,CAC33086,CAC33441,AAB60358,AAB60359,AAA92563,AAA92564,AAB60367,AAA91229,AAC50445,AAB19241,AAB61773,AAB19242,AAA98506,AAA75321,AAA75550,AAA93171,AAC35422,AAC35423,AAA75592,AAA81336,AAB70114,AAB80796,AAD00010,AAA93482,AAC32744,AAB02267,AAB40632,AAB16918,AAB16919,AAB41720,AAB41721,AAB39257,AAC16437,AAD00845,CAA23786,CAA43877,CAA43878,CAA45718,CAA45785,CAA53566,CAA58317,CAA62035,CAA62036,CAA62864,CAA65327,CAA68983,CAA69157,CAA70198,CAA73474,CAA73901,CAA78849,CAA86838,A0FIZ3,A0FIZ4,A0FKC4,A0FKC5,P01889,Q31612,CAC32990,CAC34836,CAC35468,CAC38391,CAC38392,CAC38393,CAC29086,CAC29240,CAC33891,CAC35159,CAC38763,CAC34572,CAC34573,CAC34574,CAC38863,CAC35317,CAC35318,CAC41988,CAC41989,CAC87878,CAC87879,CAC87132,CAC87133,CAC87134,CAC87135,CAC87136,CAC87137,CAC87138,CAC87139,CAC87140,CAB92135,CAC10402,CAC01698,CAC34576,CAD10396,CAD10399,CAD10400,CAD10401,CAD10402,CAD10403,CAD10404,CAD10405,CAD10406,CAD10407,CAD10408,CAD10409,CAD10410,CAD10411,CAD10412,CAD10413,CAD10414,CAD10415,CAD10416,CAD11988,CAD11989,CAD12423,CAD12424,CAD12425,CAD20128,CAD20129,CAD20130,CAD22131,CAD22132,CAD22133,CAD28197,CAD28198,CAD30704,CAD34593,CAD34595,CAD42656,CAD42872,CAD42873,CAD43054,CAD43055,CAD43056,CAD43181,CAD43182,CAD43183,CAD43184,CAD43303,CAD43721,CAD43645,CAD44162,CAD44567,CAD44642,CAD45437,CAD45438,CAD45441,CAD45442,CAD45558,CAD48118,CAD48119,CAD48120,CAD48121,CAD48122,CAD47823,CAD47824,CAD47825,CAD47828,CAD47829,CAD47858,CAD48197,CAD50589,CAD52822,CAD54119,CAD55948,CAD55949,CAD55950,CAD58885,CAD59635,CAD60271,CAD60272,CAD60653,CAD61023,CAD62185,CAD67713,CAD68005,CAD68158,CAD68985,CAD70168,CAD70169,CAD79562,CAD79563,CAD79564,CAD79565,CAD79442,CAD79443,CAD79474,CAD79567,CAD80094,CAD86940,CAD87732,CAD87773,CAD88897,CAD89001,CAD89002,CAD89004,CAD89532,CAD89529,CAD89997,CAD90011,CAD91416,CAD91417,CAD92092,CAD92345,CAD92861,CAD98750,CAE01414,CAE01415,CAE02643,CAE12197,CAE22451,CAE22466,CAE22467,CAE22468,CAE22484,CAE22485,CAE45007,CAE30298,CAE30299,CAE30300,CAE30457,CAE30458,CAE45177,CAE45170,CAE45171,CAE45172,CAE46109,CAE46087,CAE46175,CAE46176,CAE46177,CAE47421,CAE51940,CAE54962,CAE54963,CAE55199,CAE55209,CAE55210,CAE82735,CAE82737,CAE82739,CAE84101,CAF05029,CAF05628,CAF31417,CAF32228,CAF33267,CAF33599,CAG14949,CAG15346,CAG17584,CAG24074,CAG25514,CAG25671,CAG25673,CAG25719,CAG25773,CAG26751,CAG26975,CAG26976,CAG29814,CAG33759,CAG44445,CAG44443,CAG44444,CAG44552,CAH04148,CAH04149,CAH04536,CAH04643,CAH04644,CAH10357,CAH23707,CAH25444,CAH25496,CAH55767,CAH61085,CAH61726,CAH61727,CAH61728,CAH61729,CAH61730,CAH61731,CAH61732,CAH61733,CAH61734,CAH61735,CAH61736,CAH61737,CAH61738,CAH61739,CAH61740,CAH61741,CAH61742,CAH61743,CAH61744,CAH61745,CAH61746,CAH61747,CAH61748,CAH61749,CAH61750,CAH61751,CAH61752,CAH61753,CAH61754,CAH61755,CAH61756,CAH61757,CAH61758,CAH61759,CAH61760,CAH61761,CAH61762,CAH61763,CAH61764,CAH61765,CAH61766,CAH61767,CAH61768,CAH61769,CAH61770,CAH61771,CAH61772,CAH61773,CAH61774,CAH61775,CAH61776,CAH61777,CAH61778,CAH61779,CAH61780,CAH61781,CAH61782,CAH61783,CAH61784,CAH61785,CAH61786,CAH68435,CAH69213,CAH89320,CAI11375,CAI11376,CAI11377,CAI29181,CAI29469,CAI30826,CAI35916,CAI39208,CAI39218,CAI39231,CAI45654,CAI46274,CAI46900,CAI48022,CAI48091,CAI52705,CAI54296,CAI54297,CAI54298,CAI56420,CAI59269,CAI77924,CAI78825,CAI79093,CAI84644,CAI91562,CAI91563,CAI91545,CAI94383,CAI94608,CAI94663,CAI94739,CAI96538,CAI18148,CAI41903,CAJ01188,CAJ01382,CAJ01383,CAJ01770,CAJ09240,CAJ13856,CAJ18634,CAJ18324,CAJ18325,CAJ18326,CAJ18327,CAJ26354,CAJ27509,CAJ27510,CAJ28576,CAJ28598,CAJ29287,CAJ30029,CAJ30030,CAJ30031,CAJ31083,CAJ31317,CAJ32465,CAJ33882,CAJ34965,CAJ34966,CAJ38413,CAJ38415,CAJ41167,CAJ43599,CAJ57480,CAJ58442,CAJ76276,CAJ76277,CAJ76314,CAJ77418,CAJ80695,CAJ80804,CAJ80870,CAJ84020,CAJ85742,CAJ85743,CAJ85792,CAJ85944,CAJ90723,CAJ91096,CAK02793,CAK12620,CAK96163,CAL24627,CAL30081,AAG31823,AAK38335,AAK38422,AAK50378,AAK50379,AAK50429,AAK58484,AAK57734,AAK57725,AAK57735,AAK57736,AAK57737,AAK72385,AAK94507,AAK94512,AAK94508,AAK94513,AAK94515,AAK94505,AAK94506,AAL10678,AAL10679,AAL10683,AAL18232,AAL18233,AAL18234,AAL18236,AAL18237,AAL18238,AAL18239,AAL18241,AAL11335,AAL59418,AAL59419,AAL59420,AAL59421,AAL58574,AAL62464,AAM14397,AAM14398,AAM78035,AAN05037,AAM95705,AAN64245,AAO21940,AAO21941,AAO21942,AAO18660,AAO42515,AAO37857,AAO37684,AAO62345,AAP13563,AAP23305,AAP55803,AAP55808,AAP56256,AAP56257,AAP70484,AAR15890,AAR15889,AAP94625,AAQ16164,AAQ55466,AAQ55467,AAQ55468,AAR28680,AAR07617,AAR15394,AAR87010,AAR98641,AAR89903,AAS75119,AAT74662,AAT06528,AAT06529,AAT74665,AAT74663,AAT74666,AAT74664,AAT27438,AAT27439,AAT46362,AAT46363,AAT11511,AAT35593,AAT35594,AAT40957,AAT39988,AAV54587,AAV54588,AAV54589,AAV54590,AAV54591,AAV54592,AAT77420,AAT99913,AAT99914,AAT99915,AAU06587,AAU43594,AAU89133,AAV65578,AAU88210,AAW47400,AAV36001,AAV41377,AAV54114,AAW81986,AAV85897,AAV85898,AAV85899,AAV85900,AAV85901,AAW81707,AAW81708,AAW81709,AAW65334,AAV91504,AAW69301,AAV84071,AAW62302,AAW66600,AAW71783,AAW71784,AAW71785,AAW71786,AAW73216,AAW88384,AAW83824,AAW83825,AAW83030,AAX22231,AAX18629,AAX18630,AAW88317,AAX34392,AAX34393,AAX34394,AAX58628,AAX58629,AAX56910,AAX56911,AAX59047,AAX63417,AAX63418,AAX63419,AAX73223,AAX73224,AAX94763,AAX94764,AAX94765,AAY43935,CAI18717,CAM26078,EAX03383,EAX03384,EAX03385,EAX03386,EAX03387,EAX03388,BAA07942,BAA07943,BAA07944,BAA23589,BAA13945,AAY26571,AAY26572,AAY26573,AAY25028,AAY25029,AAY57924,AAY40252,AAY59439,AAY85374,AAZ28913,AAZ28914,AAZ28916,AAY96635,AAY96636,AAZ28920,ABA07957,ABA07958,ABA07959,AAZ28932,AAW71782,AAZ15018,AAZ15019,AAZ15020,AAZ15021,AAZ15022,AAZ15023,AAZ15024,AAZ15025,AAZ20629,AAZ23041,AAZ23042,AAZ23043,AAZ23104,AAZ67357,AAZ67358,AAZ67359,AAZ67360,AAZ73722,AAZ95590,AAZ95952,AAZ95953,ABA08413,ABA26906,ABA26907,ABA26934,ABA29237,ABA39797,ABB00288,ABA60115,ABB45379,ABB70068,ABB51135,ABB51651,ABB52620,ABB52625,ABB52626,ABB90969,ABB55456,ABC18323,ABC55315,ABC55316,ABC61958,ABC61959,ABC61960,ABC61961,ABC61963,ABC61965,ABC84218,ABC84219,ABC60329,ABC79299,ABC94580,ABC79686,ABD62868,ABD62870,ABD64572,ABD64574,ABD64575,ABD64578,ABD75758,ABD93914,ABD93915,AAC35941,AAC26783,AAC25779,AAC25780,AAC25781,AAC67567,AAD13608,AAD16176,ABD93918,ABE27964,ABE27965,ABE27966,ABE27967,ABE27968,ABE27969,ABE27970,ABE27971,ABE27972,ABE72966,ABF58777,ABF58778,ABF18980,ABF60560,ABF60561,ABF60563,ABF74595,ABF93211,ABF93213,ABF83188,ABG23665,ABG37693,ABG43101,ABG38307,ABH03570,ABH03571,ABH03572,ABH03573,ABH03574,ABH03576,ABG66731,ABH03381,ABI96691,ABM69180,AAL31360,AAF26751,AAA64513,AAK31805,AAK31806,AAB51453,AAB00144,AAA59628,AAA36221,AAA52657,AAA59620,AAA59664,AAA59667,AAA59666,AAA02950,AAA59663,AAA59662,AAA59661,AAA59660,AAA59617,AAA36223,AAA59644,AAA36228,AAA59646,AAA59623,AAA52661,AAA52660,AAA52658 Hs.77961,Hs.654404,Hs.703277,Hs.707171 GDB:120048 AS|HLA B|HLAB|SPDA1 protein-coding 1343149 HLA-C major histocompatibility complex, class I, C HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described 1580863 1384166,2708822,2787363,2843461,3485286,9373155,18486765,18451182,18434400,18396213,18385790,18381784,18369457,18364739,18347914,18340360,18332066,18329312,18315912,18309376,18301962,18297378,18289678,18263639,18219280,18194915,18186800,18091530,18086268,18086267,18082573,18075513,18074415,18070207,18069932,18064508,18005090,17997746,17990989,17971053,17971052,17964196,17956696,17950922,17927716,17911430,17909631,17900288,17878941,17869653,17868255,17785583,17728335,17726164,17714418,17666781,17661908,17652849,17641165,17617375,17604825,17598037,17597093,17578051,17573956,17554059,17530646,17523949,17509453,17504510,17498269,17491685,17489060,17480220,17471440,17462512,17462511,17407088,17392574,17389029,17388919,17383044,17378697,17373939,17340018,17317585,17311253,17309450,17258541,17252545,17234427,17223660,17212710,17207712,17166285,17117954,17106278,17101473,17092264,17085834,17082605,17062033,17029201,17026471,17021767,16969539,16947780,16929347,16922942,16890179,16866883,16857416,16829306,16788244,16774550,16720218,16720212,16702430,16642438,16634885,16609350,16571411,16532100,16532020,16490887,16489264,16459714,16455884,16451198,16441500,16439971,16405603,16365741,16339849,16331567,16331510,16313304,16297191,16284396,16281939,16272320,16267409,16235096,16216678,16215732,16185849,16185325,16185272,16129034,16103458,16101836,16097034,16029431,16029332,16026588,16019679,15982262,15982258,15953084,15943912,15940053,15896209,15896208,15854032,15853898,15848982,15807454,15751651,15743917,15737195,15683420,15662734,15654960,15654959,15650879,15639927,15603879,15554365,15546341,15539411,15535834,15534563,15523160,15496201,15480178,15361135,15323271,15321756,15310528,15307871,15304010,15301865,15297676,15251317,15245541,15245377,15245373,15239092,15220037,15214895,15211110,15191952,15191523,15191522,15140038,15140030,15128924,15124939,15122136,15086350,15072129,15061705,15057902,15009808,15009803,14727382,14719207,14716759,14705987,14705982,14700599,14675183,14674935,14626512,14617049,14617038,14595379,14581545,14551034,14527733,14501803,14501786,12975536,12962836,12956875,12941076,12899833,12870022,12857887,12853576,12825172,12794140,12776912,12774051,12753667,12730526,12709815,12665835,12651075,12648281,12622774,12619017,12594841,12590984,12588373,12574360,12574356,12505198,12492817,12477932,12472658,12472657,12454284,12445319,12445315,12392856,12372094,12352262,12296785,12195346,12148091,12115024,12107410,12100686,12072195,12039411,12028535,12022360,12011375,12010826,11984513,11972880,11972879,11967296,11927505,11904677,11875053,11861287,11841366,11751963,11696223,11574100,11543903,11543893,11543892,11390610,11390039,11390038,11348465,11323700,11222331,11182228,11181188,11169245,11169242,11169240,11163076,11144289,11122018,11120862,11064107,11061291,11053636,11009104,10954160,10912513,10898498,10885573,10850706,10820396,10809759,10715516,10703619,10647885,10497191,10488744,10429675,10395115,10395103,10372547,10323347,10190900,10090622,9894860,9894855,9840288,9768753,9751712,9686604,9686591,9672159,9601942,9551969,9464792,9459510,9459506,9455497,9435339,9378975,9293775,9234483,9211742,9190911,9177776,9158158,9153759,9104816,9098935,9089103,9008313,8883300,8795149,8769474,8692965,8655361,8613148,8493575,7983384,7957306,7905471,7897214,7871529,7860363,7839353,7760000,7650491,7621073,7499177,7482492,6609813,6591601,6585830,3863816,3032784,2914713,2715640,2714853,2714852,2450918,2000377,1711567,1598685,1383381,1317015,1055432,8084338,9698101,9373217,7913356,11932387,10546855,9120272,8877415,8671651,2789433,15316337,10799863,1316930,7677956,12427289,9263011,7539755,10707087,12526811,11289809,11578695,9586638,9052838,15078178,10684310,14965316,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,16189514,9521070,11172020 3107 XM_001717045,XM_001715881,XM_001719879,NG_002397,AB008136,AB032096,AB088111,AB196344,AB196345,AB196346,AB202106,AB247153,AB247154,AB248242,AB253624,AB257505,AB257506,AF002270,AF002271,AF003284,AF009682,AF009684,AF009685,AF015557,AF015559,AF016304,AF017322,AF017323,NM_002117,AF017324,AF017325,AF017326,AF017329,AF017330,AF017331,AF019568,AF036551,AF036553,AF036555,AF036557,AF037075,AF037077,AF037079,AF037450,AF038574,AF039198,AF062587,AF062588,AF069961,AF076476,AF082801,AF100320,AF102689,AF105241,AF138277,AF139728,AF144665,AF145467,AF145761,AF145763,AF147702,AF165851,AF165853,AF172868,AF176082,AF179632,AF189726,AF205537,AF220291,AF245437,AF250557,AF281056,AF284583,AF289031,AF316036,AF323844,AF323846,AF323854,AF335315,AF480614,AF497547,AF509727,AF510721,AF525406,AF525408,AF529191,AF535212,AF539619,AF541997,AF541998,AJ001977,AJ010322,AJ010323,AJ011881,AJ011882,AJ011883,AJ011884,AJ131194,AJ133100,AJ133473,AJ133475,AJ133476,AJ237703,AJ238694,AJ242661,AJ243434,AJ249163,AJ249164,AJ277100,AJ278494,AJ278509,AJ291815,AJ292559,AJ293016,AJ293017,AJ293511,AJ298116,AJ298837,AJ300765,AJ304496,AJ306617,AJ318865,AJ418708,AJ420242,AJ420243,AJ420245,AJ420247,AJ420248,AJ420251,AJ420252,AJ438882,AJ440717,AJ440718,AJ506097,AJ506196,AJ507389,AJ507431,AJ507797,AJ507798,AJ515217,AJ535690,AJ549184,AJ549185,AJ550622,AJ550623,AJ558126,AJ558127,AJ558128,AJ558129,AJ558130,AY368486,AY368504,AY371078,AY371080,AY373452,AY429571,AY429604,AY429725,AY429727,AY434500,AY438570,AY438572,AY484703,AY509614,AY509615,AY509618,AY530953,AY536515,AY607028,AY618875,AY364410,AJ628735,AJ628733,AJ628737,AJ628741,AJ629313,AJ629315,AJ635295,AJ635299,AJ697649,AJ697650,AJ697852,AJ810176,AJ831405,AJ851863,AJ851864,AJ851865,AJ865388,AJ871635,AJ878877,AJ879943,AJ971029,AL662833,AL671883,AM039493,AM087019,AM087957,AM087958,AM157129,AM158319,AM180629,AM180647,AM180648,AM180649,AM180651,AM180722,AM180941,AM236221,AM260635,AM261030,AM285029,AM419012,AY028706,AY028708,AY064404,AY078079,AY093610,AY158888,AY162385,AY181042,AY217669,AY229982,AY230857,AY233979,AY323834,AY354908,AY363885,AY363887,AJ566950,AJ579644,AJ579645,AJ579646,AJ579787,AJ579997,AJ579998,AJ580001,AJ580002,AJ616764,AJ616766,AJ616770,AJ616772,AJ616774,AJ617511,AJ617512,AJ617783,AJ617785,AJ620461,AJ621024,AJ558132,AY619989,AY623606,AY643837,AY714373,AY839182,AY887667,AY918170,AY918171,AY929155,AY973960,AY973961,BA000025,BX322539,CH471081,D64153,D83957,D89334,DQ003053,DQ020591,DQ086795,DQ086799,DQ135946,DQ135948,DQ200949,DQ206991,DQ244128,DQ244130,DQ244132,DQ244134,DQ270211,DQ289052,DQ289054,DQ314860,DQ314861,DQ327710,DQ334740,DQ334744,DQ359691,DQ372912,DQ400515,DQ400525,DQ400527,DQ400531,DQ401175,DQ401181,DQ401183,DQ417103,DQ417105,DQ417109,DQ453525,DQ514599,DQ648006,DQ648007,DQ780571,DQ782328,DQ784564,DQ833439,L54059,M16272,M16273,M24030,M26432,M28172,M59865,U31373,U38975,U38976,U44064,U52176,U56260,U60217,U60218,U60321,U60322,U60323,U60324,U60422,U61273,U61274,U80671,U81012,U88251,U88252,U88253,U88839,U96785,U96787,U96789,U97345,U97347,X00495,Y14684,Y15745,Y15746,Y15842,Y16411,Y16412,Y16418,Y17064,Y17065,Y18139,Y18141,Y18142,Y18143,Y18145,Y18146,Y18499,Y18656,Z22752,Z72007,Z75172,Z79751,Z80228,AF168611,AF196489,AF405691,AJ005199,AJ010749,AJ440716,AJ537578,AK024836,AK130592,AY732487,BC002463,BC004489,BC007814,BC008457,BC010542,BC033293,BC041078,CA395932,CR590624,CR591580,CR592947,CR593350,CR595198,CR596955,CR597526,CR598290,CR598918,CR599470,CR600524,CR601147,CR601998,CR602127,CR602442,CR603910,CR604220,CR605658,CR606564,CR606802,CR606838,CR607146,CR607446,CR607744,CR608009,CR608133,CR608445,CR608734,CR610206,CR610282,CR610894,CR611167,CR611253,CR611808,CR612894,CR613417,CR617532,CR619374,CR619491,CR619732,CR620918,CR622501,CR623932,CR625377,CR626083,CR626476,CR626681,D38526,D49552,D49819,D50852,D50853,D50854,D64145,D64146,D64147,D64148,D64150,D64151,D64152,D83029,D83030,D83741,L38251,L77114,M11886,M12679,M21963,M24031,M24096,M24097,M26429,M26430,M26431,M26712,M28160,M28206,M28207,M84171,M84172,M84173,M84174,M84386,M99389,M99390,S74115,U06695,U06696,U07230,U09853,U41386,U41420,U62824,U91179,X58536,X70856,X70857,X76189,X82122,X83394,X97321,X98742,X99704,Y10520,Y11843,Y14868,Z15144,Z33459,Z46809,Z46810,Z83247,Z83803 NP_002108,XP_001717097,XP_001715933,XP_001719931,BAA22919,BAA84115,BAC54942,BAD77815,BAD77816,BAD77817,BAE78631,BAE76021,BAE76022,BAE78656,BAE87034,BAE93431,BAE93432,AAC14581,AAB62539,AAC17716,AAB66708,AAB66710,AAB66711,AAC17722,AAC17724,AAB80724,AAB70288,AAB70290,AAB70291,AAB70292,AAB70295,AAB70296,AAC14579,AAC17721,AAC17727,AAC17725,AAC17713,AAC17720,AAC17717,AAC17718,AAC17715,AAC17710,AAC17723,AAD37816,AAC16245,AAF23073,AAC27626,AAD52014,AAF04638,AAF04743,AAF29567,AAF64391,AAF65514,AAD38379,AAD38672,AAD38673,AAD38674,AAD53513,AAF89551,AAF89554,AAD48066,AAD51747,AAD52687,AAF04581,AAF19427,AAF33239,AAG53741,AAB70289,AAK69510,AAF91475,AAG10048,AAG49322,AAG40881,AAG40882,AAG42272,AAK07655,AAL87225,AAM46846,AAP30863,AAM44831,AAM83098,AAM91947,AAN04004,AAN07187,AAN33107,AAN10165,AAN10166,CAA05125,CAB45917,CAB45918,CAB65545,CAB65546,AAG53742,CAB65548,CAC11132,CAB38942,CAB37942,CAB37944,CAB37945,CAB40352,CAB41889,CAB44356,CAB46485,CAB53538,CAB53539,CAB86064,CAB95011,CAC01936,CAC19191,CAC05372,CAC04321,CAC04322,CAB97130,CAC18746,CAC12745,CAC24483,CAC19018,CAC36100,CAC79613,CAD12801,CAD12427,CAD12428,CAD12430,CAD12432,CAD12433,CAB65547,CAD12436,CAD12437,CAD27616,CAD29450,CAD29451,CAD44569,CAD44641,CAD45440,CAD45557,CAD47827,CAD47856,CAD56468,CAD59685,CAD70710,CAD70711,CAD79471,CAD79472,CAD90006,CAD90007,CAD90008,CAD90009,CAD90010,AAR15062,AAR28679,AAQ72735,AAR15147,AAR15148,AAQ81571,AAR06856,AAR08453,AAR10880,AAR10881,AAR12134,AAR06668,AAR06669,AAR87009,AAR99590,AAR99591,AAR99594,AAS98883,AAS45436,AAT46360,CAF32225,CAF18233,CAF32226,CAF32227,CAF32229,CAF33342,CAF33343,CAG25672,CAG25674,CAG26752,CAG26753,CAG26974,CAH17687,CAH40829,CAH65480,CAH65479,CAH65478,CAI29271,CAI40345,CAI48027,CAI53896,CAI94871,CAI17409,CAM24814,CAM24815,CAM24816,CAM24817,CAI18144,CAJ01384,CAJ32664,CAJ32665,CAJ42902,CAJ43601,CAJ55687,CAJ55680,CAJ55681,CAJ55682,CAJ55690,CAJ55741,CAJ56101,CAJ84823,CAJ97443,CAK02799,CAK96162,CAL91416,AAK31618,AAK31619,AAL49978,AAL82717,AAM14725,AAO49822,AAN84536,AAO24136,AAO62346,AAO74627,AAO73564,AAO84019,AAP84346,AAR28201,AAR19086,AAR19102,CAJ31318,CAD90012,CAD98751,CAE22463,CAE22464,CAE22465,CAE30287,CAE30455,CAE30456,CAE30459,CAE30460,CAE84097,CAE84099,CAE84103,CAE84105,CAE84107,CAE85468,CAE85469,CAE92337,CAE92338,CAF05030,AAT39426,AAT41622,AAT39989,AAT65966,AAU14145,AAW21339,AAW88385,AAX18631,AAX18632,AAX98239,AAX94769,AAX94770,BAB63310,EAX03374,EAX03375,EAX03376,EAX03377,EAX03378,EAX03379,EAX03380,EAX03381,EAX03382,BAA11022,BAA22206,BAA13946,AAY23010,AAY46194,AAZ28915,AAZ28917,AAZ53371,AAZ53372,ABB16354,ABB16355,ABB52621,ABB52622,ABB52623,ABB52624,ABB55457,ABC02064,ABC02065,ABC47332,ABC47333,ABC59292,ABC61964,ABC61966,ABD60574,ABD62869,ABD62874,ABD62875,ABD62877,ABD64573,ABD64576,ABD64577,ABE00935,ABE00936,ABE00938,ABD95971,ABF60562,ABG43099,ABG43100,ABG79048,ABG91051,ABG81862,ABH03035,AAB04639,AAA59700,AAA59702,AAA59671,AAA59648,AAA59670,AAA59659,AAA74583,AAA81370,AAA81371,AAB02773,AAB82334,AAB01210,AAB03578,AAB03579,AAB03581,AAB03582,AAB03583,AAB03584,AAB03587,AAB03623,AAB03624,AAB38971,AAB40998,AAB48495,AAB48496,AAB48497,AAB48516,AAC17737,AAC17719,AAC17728,AAC17714,AAC17711,CAA25190,CAA75000,CAA75755,CAA75756,CAB44777,CAA76197,CAA76198,CAA76206,CAA76613,CAA76614,CAB71932,CAB71934,CAB71935,CAB71936,CAB71938,CAB71939,CAB71315,CAB71940,CAA80437,CAA96520,CAA99487,CAB02077,CAB02409,AAD50823,AAM76870,AAL03994,CAA06438,CAA09341,CAD29433,CAD61205,AAV33126,AAH02463,AAH07814,AAH08457,AAH10542,AAH33293,BAA07531,BAA08500,BAA08625,BAA32611,BAA32610,BAA32612,BAA19531,BAA19532,BAA19533,BAA19534,BAA19535,BAA19536,BAA19537,BAA11747,BAA32613,BAA32615,AAF26750,AAL40067,AAA52665,AAA59699,AAA59847,AAA00027,AAA59654,AAA59656,AAA59657,AAA59701,AAA59703,AAA59704,AAA52666,AAA36235,AAA57258,AAA53259,AAA59685,AAA59686,AAA59687,AAA59688,AAA59705,AAA88088,AAA88089,AAD14147,AAA92995,AAA92996,AAA17037,AAA50217,AAC32743,AAC32742,AAB67322,AAC51396,CAA41427,CAA50209,CAA50210,CAA53783,CAA57634,CAA58313,CAA65986,CAA67294,CAA68035,CAA71531,CAA72592,CAA75128,CAA78850,CAA83881,CAA86839,CAA86840,CAB05845,CAB06057,O00435,O19514,O19515,O19553,O19571,O19572,O19573,O19574,O19575,O19578,O19579,O19580,O19617,O19635,O19636,O19654,O19655,O19657,O19677,O19761,O19784,O78071,O78089,O78164,O78176,O78179,O78213,O95957,P04222,P10321,P30499,P30501,P30504,P30505,P30508,P30510,P79497,P79558,P79560,P79617,P79618,P79619,Q001P2,Q001S2,Q06AC8,Q08GD3,Q08GM9,Q0E9Q9,Q0E9R0,Q0MT77,Q0P6S6,Q0PHP6,Q0PMJ9,Q0PMK0,Q0PPT7,Q0PQ42,Q0PQ78,Q0ZAW8,Q0ZAW9,Q0ZP94,Q0ZP95,Q14838,Q14QQ1,Q1G102,Q1M2U3,Q1M2X9,Q1W0Z3,Q1WAA7,Q1WAA9,Q209I4,Q27I59,Q27W00,Q29645,Q29658,Q29729,Q29730,Q29752,Q29753,Q29866,Q29914,Q29954,Q29958,Q29960,Q29962,Q29963,Q29987,Q29988,Q2L4E9,Q2L4W1,Q2L6G3,Q2LDD5,Q2LDD7,Q2P9S5,Q2UV94,Q2UVJ3,Q2XPN2,Q30193,Q30194,Q30196,Q30203,Q30204,Q30205,Q306H8,Q3KT81,Q45FZ2,Q45FZ3,Q45YI9,Q45YJ2,Q4QZ30,Q4U0W2,Q4ZJJ0,Q52QV2,Q52QV3,Q53X46,Q53YN9,Q53YP1,Q53YY2,Q545Z1,Q545Z8,Q546A4,Q546E2,Q546I6,Q546I7,Q5C9P9,Q5D1W7,Q5D1W8,Q5EFR2,Q5F2L3,Q5K018,Q5K095,Q5MBP4,Q5QT33,Q5R1M1,Q5R1M2,Q5R1M3,Q5UGI4,Q5W1M0,Q5W1M1,Q5W1M2,Q5ZGL9,Q64EU5,Q6A0F4,Q6A3P4,Q6DUF1,Q6GYF7,Q6IUU7,Q6IVK0,Q6IVY5,Q6R739,Q6R742,Q6R743,Q6T391,Q6T392,Q6T614,Q6T715,Q6T716,Q6UFS6,Q6UJZ6,Q6UQM7,Q6V116,Q6ZXT8,Q6ZXX0,Q6ZXX1,Q6ZYB9,Q700L6,Q700Z4,Q700Z5,Q700Z6,Q700Z7,Q704P8,Q704Y6,Q706I6,Q707T7,Q707T8,Q708F0,Q708F1,Q708F2,Q708F3,Q708F4,Q70NZ9,Q70P01,Q70P02,Q70P03,Q70P04,Q70P05,Q7JFH7,Q7YNW6,Q7YNX6,Q7YNY7,Q7YNY8,Q7YP29,Q7YP80,Q7YQ06,Q7YQ61,Q7YQB1,Q7YQB2,Q7YQB3,Q85ZX8,Q860A5,Q860A8,Q860B0,Q860B3,Q860R7,Q860R8,Q860S4,Q861B1,Q861F9,Q8HWE9,Q8HWG1,Q8HWM4,Q8HWM5,Q8HWP4,Q8HWP7,Q8HWR1,Q8HWT1,Q8HWT2,Q8HWT3,Q8HWT6,Q8HWT7,Q8MH57,Q8MHM3,Q8MHM5,Q8MHN2,Q8MHN5,Q8MHP9,Q8SNA8,Q8SNA9,Q8SNB0,Q8SNB1,Q8SNC7,Q8SP56,Q95604,Q95HC2,Q95HN1,Q96FQ5,Q9BCN2,Q9BCN6,Q9BD09,Q9BD29,Q9BD45,Q9BD46,Q9GIN8,Q9GIN9,Q9GIP1,Q9GJ39,Q9GJF2,Q9GJG5,Q9GJM4,Q9MY32,Q9MY34,Q9MY41,Q9MY58,Q9MY63,Q9MYB1,Q9MYB6,Q9MYF9,Q9MYH6,Q9MYH7,Q9MYH9,Q9MYI1,Q9TNR4,Q9TNT0,Q9TNT2,Q9TNT5,Q9TNT6,Q9TNU1,Q9TNZ7,Q9TP43,Q9TPT9,Q9TPU1,Q9TPU5,Q9TQ33,Q9TQ34,Q9TQ35,Q9TQ36,Q9TQA8,Q9UEY2,Q9UIP2,Q9UM43,Q9UQT3,Q9Y4H9,ABM82822,ABM86008 Hs.449621,Hs.654404,Hs.656020 GDB:119311,GDB:6381310 D6S204|FLJ27082|HLA-Cw|HLA-JY3|HLC-C|PSORS1 protein-coding 1346716 HLA-DMA major histocompatibility complex, class II, DM alpha HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. 1582700,1580863 8034636,10631952,11048639,11827988,15489916,17652306,18348411,17015729,16864101,16737583,16435885,15723810,15547089,15547082,14754527,12928384,12858445,12794545,12786997,12742663,12728471,12663675,12648225,12477932,12392850,11956296,11881821,11775239,11743588,11739502,11441095,11180452,11168931,11118314,11070170,10716924,10661406,10322421,9879837,9768757,9759843,9551909,9371817,9311912,8947036,8890155,8849454,8574855,8568858,8225438,8139690,8026867,1922385,1922365,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305 1582700 3108 NM_006120,AL645941,AL662845,AL935042,BX088556,BX908719,CH471081,CR759798,CR936913,U04877,U04878,X76775,X87344,Z96104,AK291858,BC011447,BC026279,CR450324,X62744 NP_006111,CAI18109,CAI17491,CAI18686,CAI18687,CAQ09032,CAQ09033,CAQ09034,EAX03658,EAX03659,EAX03660,CAQ09467,CAQ09468,CAQ09469,CAQ08786,CAQ08787,CAQ08788,AAA56993,AAA56994,CAA54169,CAA54170,CAA60781,BAF84547,AAH11447,AAH26279,CAG29320,CAA44606,P28067,Q29878,Q31604,Q5SNZ7,Q6ICR9,ABM83765,ABM87085 Hs.351279 GDB:129007 D6S222E|DMA|HLADM|RING6 protein-coding 1349438 HLA-DMB major histocompatibility complex, class II, DM beta HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. 1582700,1580863 11168931,11118314,10885572,10716924,10661406,10631952,10519369,10322421,10209506,9879837,9768757,9759843,9551909,9371817,9311912,9157091,8947036,8920889,8890155,8849454,8757605,8574855,8568858,8406617,8225438,8139690,8034636,7648393,7528727,1922365,11048639,11827988,15489916,17652306,18348411,17015729,16864101,16737583,16335952,15787724,15547089,15547082,15489334,14754527,12932352,12858445,12786997,12742663,12663675,12648225,12477932,12392850,11956296,11881821,11775239,11743588,11591653,11441095,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,16189514 1582700 3109 AF004827,AF072680,AF134890,AL645941,AL662845,AL935042,AY972536,BX927138,CH471081,CR752645,NM_002118,CR936913,U00700,U16762,U31743,U32663,X76776,X87344,AB209577,AY645722,BC017508,BC027175,BC035650,CR407606,CR591828,CR594625,CR611765,U15085,Z23139 NP_002109,AAB61609,AAC26112,AAD30279,CAI18108,CAI17490,CAI18685,AAX84974,CAQ08457,CAQ08458,EAX03657,CAQ09834,CAQ09835,CAQ08780,CAQ08781,AAA03296,AAC50514,AAC50515,AAC50517,CAA54171,CAA60782,BAD92814,AAV97947,AAH27175,CAG28534,AAB60387,CAA80670,O02952,P28068,Q29702,Q29709,Q52RG1,Q58ZE2,Q59F83,Q5SNZ8,Q5STC4,Q6LEU6,ABM82067,ABM85246 Hs.654428 GDB:129008 D6S221E|RING7 protein-coding 1342704 HLA-DOA major histocompatibility complex, class II, DO alpha HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. 1580863 3000765,11048639,11827988,15489916,17652306,16806233,16101837,15847654,15817706,15489334,15265882,14574404,12477932,12439622,11118314,10661406,10323340,9311912,9088974,8890155,2991382,2499532,2370084,1999352,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305 3111 AB005991,AB005992,AB005993,AB005994,CR759829,CR936909,X02882,Z81310,AJ420585,AB005995,AB005996,AB005997,AB005998,AL645931,AL662845,AL805913,CH471081,CR759795,NM_002119,AK290714,AY947479,AY947480,AY947481,AY947482,BC013183,M26039,M29335,M31525,M38056 NP_002110,BAA81787,BAA81788,BAA81789,BAA81790,CAP58470,CAQ07150,CAA26635,CAB03594,CAC70064,BAA81791,BAA81792,BAA81793,BAA81794,CAI17494,CAI18546,EAX03667,EAX03668,CAQ07430,BAF83403,AAX49509,AAX49510,AAX49511,AAX49512,AAH13183,AAA59716,AAA36253,AAA60075,AAA35992,P06340,Q14535,Q30011,Q58HU0,Q58HU1,Q5STC7,Q5STC8,ABM81974,ABM85152 Hs.631991 GDB:120633 HLA-DNA|HLA-DZA|HLADZ protein-coding 1346079 HLA-DOB major histocompatibility complex, class II, DO beta HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. 1580863 2998758,8890155,11048639,11827988,15489916,17652306,15847654,15730525,15489334,15265882,12477932,12445321,12439622,11823510,11118314,10661406,9311912,9088974,8568858,8458375,3036827,2499532,1453454,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,16189514 3112 NM_002120,AB035249,AL669918,AL671681,CH471081,CR762476,CT009502,L29472,X66401,X87344,AY645723,BC006097,BC020226,BM152694,BQ010608,CR541811,CR541832,M26040,X03066 NP_002111,CAI18134,CAI17709,EAX03638,EAX03639,EAX03640,EAX03641,CAQ08488,CAQ07775,AAA59717,CAA47028,CAA60789,AAV97948,AAH06097,AAH20226,CAG46610,CAG46631,AAA59718,CAA26870,P13765,Q5QNS2,Q5QNS3,Q6FHC2,Q6FHE3,Q8WUK6 Hs.1802 GDB:120049 DOB protein-coding 1605730 HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. 2461352,11048639,11827988,15489916,17652306,17785583,17234427,17060025,16465617,16098233,16042197,15713216,15663751,15603877,15304007,15191952,15121303,15041165,12956878,12910711,12899833,12778461,12707403,12580031,12477932,12445315,12073072,11777970,11556979,11118314,11019928,10958363,10661406,10090623,9694359,9366419,8773319,8649448,8454872,7912458,7725312,6584734,6325928,6300884,3266023,3036829,2997750,2987832,2578218,10729169,8084338,9079699,8376762,7602119,3489470,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,16189514 3113 AY335536,AY335537,AY335538,AY335539,AY335540,AY335541,AY335542,NM_033554,AF013767,AF015295,AF074847,AF074848,AF076284,AY335543,AY335544,AY375760,AY375761,AY375762,AY375763,AY375764,AY375765,AY375766,AY375767,AY375768,AY375769,AY375770,AY375771,AY375775,AY375780,AY375781,AY375787,AY375791,AY375827,AF076285,AF092049,AF098794,AF165160,AF346471,AL645931,AL662824,AL805913,AY335522,AY335523,AY335524,AY335525,AY335526,AY335527,AY335528,AY335529,AY335530,AY335531,AY335532,AY335533,AY335534,AY335535,AY375828,AY375829,AY375830,AY375831,AY375832,AY375833,AY375834,AY375835,AY375836,AY375837,AY375838,AY375839,AY603382,AY603383,AY603384,AY603385,AY603386,AY618552,AY618553,AY650051,BX120009,CH471081,CR759795,CR759829,CR759904,CR762479,CR847849,DQ274060,DQ274061,K00514,M23903,M23904,U87556,X02228,X03100,X78199,X82393,X82394,AK292709,BC009956,CR601798,CR617728,M27487,X00457,AY375840 AAR01853,AAR01855,AAR01857,AAR01859,AAR01861,AAR01863,AAR01865,NP_291032,AAC64233,AAC61669,AAD39684,AAD39685,AAR01867,AAR01869,AAR01871,AAQ84179,AAQ84180,AAQ84181,AAQ84182,AAQ84183,AAQ84184,AAQ84185,AAQ84186,AAQ84187,AAQ84188,AAQ84190,AAQ84189,AAQ84191,AAQ84192,AAQ84193,AAQ84194,AAQ84195,AAD42927,AAD42928,AAF00051,AAC72845,AAD47826,AAK27152,CAI17598,CAI17600,CAI18549,AAR01827,AAR01829,AAR01831,AAR01833,AAR01835,AAR01837,AAR01839,AAR01841,AAR01843,AAR01845,AAR01847,AAR01849,AAR01851,AAQ84196,Q5EY04,Q5STN9,Q5STP0,Q5STP1,Q5SUM8,Q67AL9,Q67AM0,Q67AM1,Q67AM2,Q67AM3,Q67AM4,Q67AM5,Q67AM6,Q67AM7,Q67AM8,Q67AM9,Q67AN0,Q67AN1,Q67AN2,Q67AR8,Q67AS2,Q67AS8,Q67AS9,Q67AT4,Q67AT8,Q67AT9,Q67AU0,Q67AU1,Q67AU2,Q67AU3,Q67AU4,Q67AU5,Q67AU6,Q67AU7,Q67AU8,Q67AU9,Q6DQK4,Q95HB9,Q9BCQ1,Q9TPP2,Q9TPX3,Q9TQA9,Q9TQB0,Q9XS09,Q9XS10,ABM84389,ABM87323,AAQ84208,AAQ84197,AAQ84198,AAQ84199,AAQ84200,AAQ84201,AAQ84202,AAQ84203,AAQ84204,AAQ84205,AAQ84206,AAQ84207,AAQ84209,AAT39912,AAT39913,AAT39914,AAT39915,AAT39916,AAT92096,AAT92097,AAT67468,CAM25980,CAM25981,CAM25982,CAM25983,EAX03669,EAX03670,EAX03671,CAQ07433,CAQ07261,CAQ09865,CAQ10344,CAQ10345,CAQ10346,CAQ10347,CAQ07485,ABB88406,ABB88407,AAA59786,AAB97110,CAA26148,CAA26887,BAF85398,AAH09956,AAA63220,CAA25143,O19680,O46883,O78000,O98050,P20036,P79554,Q29ZN0,Q29ZN1,Q29ZN2,Q29ZN3,Q29ZN4,Q2Q060,Q2Q061,Q49U27,Q49U29,Q49U31,Q49U33,Q49U35,Q49U37,Q49U39,Q49U41,Q49U43,Q49U45,Q49U47,Q49U49,Q49U51,Q49U53,Q49U55,Q49U57,Q49U59,Q49U61,Q49U63,Q49U65,Q49U67,Q49U69,Q49U71,Q59GQ1,Q5EY03 Hs.347270 GDB:120634 HLA-DP1A|HLADP|HLASB protein-coding 1344682 HLA-DPA2 major histocompatibility complex, class II, DP alpha 2 (pseudogene) 6597088 3114 X01634 GDB:120635 HLA-DP2A pseudo 1348324 HLA-DPA3 major histocompatibility complex, class II, DP alpha 3 (pseudogene) 10452889 267013 AL031228 GDB:11510841 dJ1033B10.14 pseudo 1347386 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. 1580863 8105536,11048639,11827988,15489916,17652306,18486765,18334973,18309376,18186799,18167262,18001300,17989893,17977207,17967832,17964196,17900288,17785583,17726164,17697965,17653770,17622527,17559577,17554059,17513705,17493157,17388766,17349874,17317585,17311339,17153701,17117948,17060025,17026464,17014432,16937440,16890179,16866899,16866883,16796127,16792590,16714073,16698425,16459716,16453260,16441488,16386646,16322289,16317094,16234356,16189666,16147881,16096810,16019679,15982263,15982255,15969672,15784113,15750822,15730526,15712014,15703957,15703453,15655774,15640334,15603877,15446291,15361135,15361132,15343265,15304007,15277401,15273960,15194283,15112906,15104683,15041165,15007363,14662898,14576061,14508706,12956878,12892399,12890000,12878786,12878363,12844410,12823769,12778461,12774051,12721173,12694588,12694578,12651073,12615603,12542744,12477932,12464650,12445315,12445309,12390706,12175732,12144625,12144621,12100571,12075003,12047363,11984513,11975985,11972883,11953976,11929590,11782272,11716174,11668578,11592043,11556983,11556979,11532022,11401923,11393660,11318984,11298597,11294566,11291046,11285127,11260508,11169249,11169242,11118314,11050177,11034567,11027344,10958363,10661406,10090623,9756411,9756410,9174146,8851734,8781129,8773318,8649448,8525482,8420834,8244783,8236237,8106267,8085260,7940502,7912859,7901923,7839356,7817379,7806296,6330724,6325928,6310612,6098459,6088068,3866218,3474276,3036829,3015787,2998758,2997750,2987832,2878910,2838415,2714855,2542966,2512583,2460556,2456351,2242906,1832848,1713190,1529429,1412416,1362295,1358867,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8356059,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305,16189514 3115 AB247517,AF041252,AF074845,AF074846,AF077015,AF180970,AF184168,AF211979,AF234538,AF280405,AF288354,NM_002121,CR762479,D10478,D10479,D10834,D10882,D13174,D14344,D28809,DQ089022,DQ100371,DQ148299,DQ206450,AF326565,AF335225,AF335226,AF335227,AF335228,AF335229,AF336222,AF336223,AF336224,AF336225,AF336226,AF336227,AF336228,AF336229,AF336230,AF336231,AF372451,AF372452,AF462072,AF489518,AF492637,AF492638,AF492639,AF492640,AF492641,AF492642,AF492643,AF517128,AF536241,AF549409,AF549410,AJ238005,AJ245640,AJ271373,AJ292074,AJ297820,AJ514871,AJ563603,AJ563604,AJ581676,AJ810847,AL645931,AL662824,AL805913,AL845446,AM039828,AM158320,AM408787,AY029777,AY033075,AY335522,AY335523,AY335524,AY335525,AY335526,AY335527,AY335528,AY335529,AF288355,AY335530,AY335531,AY335532,AY335533,AY335534,AY335535,AY335536,AY335537,AY335538,AY335539,AY335540,AY335541,AY335542,AY335543,AY335544,AY374100,AY375772,AY375774,AY375776,AY375782,AY375783,AY375784,AY375785,AY375788,AY375790,AY375796,AY375797,AY375800,AY375804,AY375805,AY375806,AY375807,AY375808,AY375809,AY375810,AY375811,AY375812,AY375813,AY375814,AY375815,AY375816,AY375817,AY375818,AY375819,AY375820,AY375821,AY375822,AY375823,AY375824,AY375826,AY425707,AY572830,AY582141,AY618897,AY823995,AY855160,AY855161,BX120009,CH471081,AY375779,M23677,M23678,M23679,M23680,M23681,M23682,M23683,M23685,M23686,M23687,M23906,M23907,M23908,M31778,M31780,M31781,M58608,M62326,M62327,M62328,M62329,M62330,M62331,M62332,M62333,M23676,DQ282119,DQ386161,DQ485789,K03014,L07768,L09236,L17310,L17311,L17313,L17314,L22076,L22077,L23400,L29174,M23675,M83915,M83916,M83917,M83918,M83919,M84014,M85222,M85223,S53170,S70106,S72495,U22311,U22312,U22313,U29534,U34033,U59437,U59438,U59439,U59440,U59441,U59442,X02228,X03022,X03023,X03024,X03025,X03026,X03027,X03028,X03100,X80331,X80752,X82123,X96986,X97406,Y08862,Y09327,Y13900,Y14230,Y16095,Y18498,Z92523,AY656678,AY656679,AY656680,AY804132,AY804133,AY804134,AY804135,AY804136,AY804137,AY804138,AY804139,AY804140,AY804141,AY804142,AY804143,M62334,M62335,M62337,M62338,M62340,M62341,M62342,M62343,M62344,M63508,M83912,M83913,M83914,AY831401,AY831402,AY831403,AY831404,BC007963,BC013184,BC015000,BT019780,CR602959,CR605846,CR608651,CR619088,DQ284441,J03041,K00409,K01615,L29173,M21886,M28200,M28201,M28202,M57466,M83664,X00532,X01426,X03067 NP_002112,BAE78492,AAD02200,AAD39682,AAD39683,AAC26835,AAK58508,AAF16938,AAF32279,AAF44659,AAK00264,AAG30143,EAX03673,EAX03674,EAX03675,CAQ10348,CAQ10349,BAA01281,BAA01282,BAA01614,BAA01704,BAA02465,BAA03278,BAA05970,AAY98352,AAZ13612,ABA33892,EAX03672,AAG30144,AAK01673,AAK20867,AAK20868,AAK20869,AAK20870,AAK20871,AAK25777,AAK25778,AAK25779,AAK25780,AAK25781,AAK25782,AAK25783,AAK25784,AAK25785,AAK25786,AAK54754,AAK54755,AAL68647,AAL92172,AAO84762,AAO84763,AAO84764,AAO84765,AAO84766,AAO84767,AAO84768,AAM62425,AAN33050,AAQ12563,AAQ12564,CAC12865,CAB53016,CAB70605,CAC27995,CAC14048,CAD55852,CAD91639,CAD91640,CAE46432,CAH18733,CAI18042,CAI18043,CAI18045,CAI17601,CAI17602,CAI17604,CAI17605,CAI18551,CAI95555,CAJ01690,CAJ43602,CAL64063,AAK40344,AAK51161,AAR01826,AAR01828,AAR01830,AAR01832,AAR01834,AAR01836,AAR01838,AAR01842,AAR01844,AAR01846,AAR01848,AAR01850,AAR01852,AAR01854,AAR01856,AAR01858,AAR01860,AAR01862,AAR01864,AAR01866,AAR01868,AAR01870,AAR21105,AAQ88052,AAQ88055,AAQ88053,AAR01840,AAQ88050,AAQ88056,AAQ88051,AAQ88060,AAQ88048,AAQ88049,AAQ88054,AAQ88090,AAQ88091,AAQ88094,AAQ88063,AAQ88064,AAQ88065,AAQ88066,AAQ88067,AAQ88068,AAQ88069,AAQ88070,AAQ88071,AAQ88072,AAQ88073,AAQ88074,AAQ88075,AAQ88076,AAQ88077,AAQ88078,AAQ88079,AAQ88080,AAQ88081,AAQ88082,AAQ88083,AAQ88085,AAR29060,AAS77869,AAT81151,AAT40308,AAW79272,AAW33682,AAW33683,CAM25984,CAM25985,AAA59741,AAA59742,AAA59743,AAA59744,AAA59745,AAA59746,AAA59747,AAA59748,AAA59750,AAA59751,AAA59752,AAA59828,AAA36255,AAA36257,AAA36258,AAA59753,AAA59719,AAA59720,AAA59721,AAA59722,AAA59723,AAA59724,AAA59725,AAA59726,ABB91805,ABD36812,ABF47047,AAA36310,AAA59690,AAA16928,AAA53479,AAA53480,AAA53481,AAA53482,AAA53476,AAA53477,AAA58441,AAA59843,AAA59740,ABB17974,AAA36259,AAA36260,AAA36261,AAA36262,AAA36263,AAA59650,AAA52663,AAA35994,AAB24928,AAB29915,AAB32181,AAB60413,AAB60414,AAB17108,AAB52511,AAA81335,AAD09481,AAD09482,AAD09483,AAD09484,AAD09485,AAD09486,CAA26147,CAA26823,CAE82008,CAE82007,CAE82037,CAE82042,CAE82043,CAE82073,CAA26886,CAA56581,CAA56728,CAA57635,CAA65710,CAA66059,CAA70086,CAA70507,CAA74199,CAA74608,AAA36264,CAA76060,CAC12860,CAB06822,AAV71025,AAV71026,AAV71027,AAW78737,AAW78738,AAW78739,AAW78740,AAW78741,AAW78742,AAW78743,AAW78744,AAW78745,AAW78746,AAW78747,AAA59727,AAA59728,AAA59730,AAA59731,AAA59733,AAA59734,AAA59735,AAA59736,AAA59737,AAA59738,AAA36266,AAA36265,AAW78748,AAW80919,AAW80920,AAW80921,AAW80922,AAH07963,AAH13184,AAH15000,AAV38583,ABC66207,AAA35993,AAA36312,AAA36313,AAA36311,AAA59739,AAA53195,AAA53196,AAA53197,AAA63221,AAA59837,CAA25210,CAA25672,CAA26871,O00259,O19628,O19686,O19699,O19701,O19749,O46884,O77952,O98215,O98216,O98217,O98218,O98219,O98222,O98223,P01916,P04232,P04440,P13763,P79493,P79608,Q05853,Q0P0L4,Q0ZFN3,Q14279,Q14465,Q27S71,Q29670,Q29682,Q29683,Q29684,Q29698,Q29714,Q29773,Q29774,Q29775,Q29776,Q29777,Q29778,Q29779,Q29780,Q29781,Q29827,Q29828,Q29860,Q29879,Q29880,Q29881,Q29898,Q29956,Q29964,Q29977,Q2MGW3,Q2PZR0,Q2UVJ2,Q30012,Q30013,Q30014,Q30015,Q30016,Q30017,Q30018,Q30019,Q30020,Q30021,Q30022,Q30023,Q30024,Q30025,Q30026,Q30027,Q30028,Q30029,Q30030,Q30031,Q30032,Q30033,Q30034,Q30035,Q30036,Q30037,Q30038,Q30039,Q30040,Q30041,Q30042,Q30043,Q30044,Q30045,Q30046,Q30047,Q30048,Q30049,Q30050,Q30051,Q30052,Q30053,Q30054,Q30055,Q30056,Q30057,Q30058,Q30059,Q30060,Q30161,Q30174,Q30180,Q30214,Q30215,Q31619,Q49U28,Q49U30,Q49U32,Q49U34,Q49U36,Q49U38,Q49U40,Q49U42,Q49U44,Q49U46,Q49U48,Q49U50,Q49U52,Q49U54,Q49U56,Q49U58,Q49U60,Q49U62,Q49U64,Q49U66,Q49U68,Q49U70,Q49U72,Q4F8G9,Q4GY31,Q4JHD8,Q4VX03,Q4VX04,Q59GY1,Q5ENE0,Q5ENE1,Q5ENW3,Q5EP46,Q5EP47,Q5EP48,Q5EP49,Q5EP51,Q5EP53,Q5EP54,Q5EP56,Q5I4H8,Q5I4H9,Q5ISH4,Q5ISH5,Q5SQ70,Q5SQ71,Q5SQ72,Q5SQ73,Q5STN8,Q5STP2,Q5STP3,Q5STP4,Q5STP5,Q5SUM4,Q5SUM5,Q5SUM6,Q5SUM7,Q5SUN1,Q5V8U6,Q5YLA6,Q67AN3,Q67AN4,Q67AN5,Q67AN6,Q67AN7,Q67AN8,Q67AN9,Q67AP0,Q67AP1,Q67AP2,Q67AP3,Q67AP4,Q67AP5,Q67AP6,Q67AP7,Q67AP8,Q67AP9,Q67AQ0,Q67AQ1,Q67AQ2,Q67AQ3,Q67AQ4,Q67AQ5,Q67AQ9,Q67AR2,Q67AR3,Q67AR9,Q67AS1,Q67AS4,Q67AS5,Q67AS6,Q67AS7,Q67AT0,Q67AT3,Q67AT5,Q67AT7,Q68V11,Q6IVX1,Q6LBX2,Q6LBX3,Q6LBX4,Q6LBX5,Q6LBX6,Q6LBX7,Q6PWX6,Q6TAS4,Q70GM2,Q714U1,Q714U2,Q7YQ09,Q7YQ10,Q860Z4,Q860Z5,Q860Z6,Q860Z7,Q860Z8,Q860Z9,Q861A0,Q861A1,Q8HWL7,Q8HWT5,Q8MH49,Q8SNC4,Q8SND2,Q95357,Q95HA4,Q95HC1,Q95HC4,Q95HC5,Q95IH8,Q95IT7,Q95IT8,Q9BCQ3,Q9BCQ4,Q9BCQ5,Q9BCQ6,Q9BCQ7,Q9BCQ8,Q9BCQ9,Q9BCR0,Q9BCR1,Q9BCR2,Q9BCS9,Q9BCT0,Q9BCT1,Q9BCT2,Q9BCT3,Q9BD13,Q9BD36,Q9BD44,Q9GIM2,Q9GIM4,Q9GIX6,Q9GJ40,Q9GJ41,Q9MY67,Q9MYE0,Q9MYG7,Q9TNT7,Q9TP05,Q9TQB2,Q9TQE2,Q9UM37,Q9XS11,Q9XS12,ABM81976,ABM85155 Hs.485130 GDB:120636 DPB1|HLA-DP1B|MHC DPB1 protein-coding 1350878 HLA-DPB2 major histocompatibility complex, class II, DP beta 2 (pseudogene) 12477932,3036829 3116 NR_001435,AL645931,AL645940,AL662824,AL845446,M23909,M23910,M23911,BC017967 CAI17609,CAI95553 Hs.665450 GDB:120637 DP2B|DPB2|DPbeta2|HLA-DP2B pseudo 1351810 HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. 1580863 18007983,18003662,17997607,17919990,17919266,17911430,17906106,17900288,17893434,17869653,17845309,17785583,17722299,17714903,17714036,17678725,17673320,17662590,17661909,17652848,17641683,17604825,17584581,17578052,17559688,17541908,17505501,17498269,17489940,17484621,17460569,17445173,17445172,17406854,17387388,17350686,17344279,17329717,17306585,17305280,17257319,17234427,17203524,17182961,17133612,17062033,17029208,17021767,17016821,16964961,16941709,16922942,16916661,16911023,16891216,16890179,16890076,16883543,16883532,16879749,16878175,16875346,16866887,16865785,16849401,16836882,16829307,16803690,16792673,16733891,16731854,16720217,16720211,18028350,16712649,15842729,15834022,15826953,15789899,15780746,15756536,15750822,15735807,15725578,15713222,15703957,15699512,15699508,15699500,15691311,15688398,15660729,15652424,15643010,15642902,15622476,15613143,15603874,15602651,15572392,15565951,15548263,15535834,15530631,15529361,15522921,15498363,15496201,15489334,15479890,15476152,15471368,15361135,15347442,15346196,15336779,15323271,15310011,15309343,15307871,15305487,15303984,15301863,15300424,15298337,15259342,15257408,15250035,15245541,15243926,15237447,15231205,15227724,15219382,15192842,15191952,15191519,15174785,15164528,15121303,15120193,15120190,15112906,15109436,15107633,15089901,15083289,15077289,15070884,15059369,15055351,15049049,15041165,15030582,15027205,15019597,15016191,15009387,15009181,15003812,14990915,14964841,14752708,14740435,14734754,14700596,15448101,3584986,6415485,2300572,11048639,11827988,15489916,17652306,18427198,18401547,18381784,18356750,18347100,18339073,18331414,18319655,18316396,18292987,18282752,18279642,18273034,18273032,18257894,18252895,18241227,18240225,18236804,18211635,18200971,18198357,18194915,18177450,18084828,18073310,18057383,18039812,18038917,18036312,18449200,16698430,16691379,16690412,16629714,16609350,16579847,16567828,16540751,16507114,16484124,16464953,16451208,16433795,16430717,16409268,16390391,16386646,16343061,16331578,16277897,16276008,16267409,16254435,16234023,16231148,16225776,16169070,16142706,16112029,16101833,16096857,16049290,16042197,15996167,15993714,15935893,15908298,15900489,15871822,15863864,15853903,15853900,15853899,16709874,14700595,12477932,12464650,12453977,12445319,12443029,12421937,12370403,12364641,12358854,12242468,12242463,12212201,12209609,12189808,12165956,12151439,12149602,12144633,12144622,12139680,12137324,12125959,12121676,12100571,12074713,12070003,12063795,12050583,12039527,12027934,12021152,12021150,12021143,12021139,12021137,12021131,12021129,11997714,11994765,11972882,11972877,11972875,11953202,11950806,14651526,14651525,14641517,14623754,14607903,14602216,14592217,14581805,14574404,14562382,14550622,14527201,14522093,13130476,12974796,12974555,12956878,12948297,12944708,12941548,12941547,12921878,12911285,12890388,12823770,12786999,12778461,12771724,12765483,12753657,12734793,12687342,12667357,12666382,12665014,12665010,12665009,12651074,12651073,12648281,12639765,12594107,12507821,12493453,12485471,11935333,11929591,11929590,11929589,11920855,11916169,11916167,11914753,11904677,11903620,11900275,11895223,11891937,11862400,11845225,11841488,11839711,11836690,11836687,11819534,11802952,11798899,11783381,11782273,11780465,11776160,11776098,11724418,11718025,11716174,11704285,11704283,11678832,11678027,11672906,11580849,11556984,11555411,11543893,11543892,11532022,11502807,11495087,11482129,11477477,11476905,11454644,11428493,11424637,11334677,11318984,11294926,11294566,11289148,11272094,11263477,11261221,11260506,11257148,11246532,11222331,11218373,11195230,11182227,11181188,11179016,11171832,11169241,11168337,11165718,11157139,11146462,11118314,11118029,11115839,11098934,11097225,11082517,11082516,11082515,11034591,11024583,11014350,10661406,10395113,9497251,9349615,9271631,8929711,8896565,7974465,6815651,6585297,6584734,6576979,3879967,3610256,3372263,3259543,3129499,3036828,2892884,2888727,2777341,2513578,2493052,2212675,1362295,8084338,9079699,8376762,7602119,3489470,10729169,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305 3117 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Hs.387679,Hs.591798,Hs.706240 GDB:120638 CD|CELIAC1|DQ-A1|FLJ27088|FLJ27328|GSE|HLA DQA1|HLA-DQA|MGC149527 protein-coding 1350485 HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2 1580863 3036828,11048639,11827988,15489916,17652306,18065200,12477932,11535811,11376336,11118314,10661406,9036956,8026991,6584734,6300884,3610256,3372263,2513578,1612647,1362295,10729169,8084338,12427289,8168144,7541827,2846691,2543930,9079699,8376762,7602119,3489470,7512597,1978941,1967269,1869305 3118 NM_020056,AL672104,AL713890,AL773543,CR753846,CR936921,K00513,M17237,M29614,M29615,M34997,M76219,X00453 NP_064440,CAI18437,CAI17623,CAI18490,CAQ09761,CAQ07312,AAA36249,AAA59605,AAA59834,AAA35772,AAA59761,CAA25142,O19697,P01906,Q30087,Q5SQ94,Q5SR04 Hs.591798 GDB:120639 HLA-DXA protein-coding 1353906 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 HLA-DQB1 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. 1580863 18331414,18316396,18312480,18312478,18301962,18295738,18292987,18289678,18282752,18279642,18279373,18273034,18273032,18272668,18259107,18257894,18252895,18248305,18241860,18241227,18236804,18211635,18200971,18198357,18177450,18155707,18086267,18085741,18084828,18073310,18070207,18065518,18065200,18057383,18053473,18039812,18038917,18036860,18036312,18036100,18028350,18022727,18007983,18003662,18001300,17999653,17997607,17989838,17971177,17967566,17964196,17956579,17927716,17919990,17919266,17911430,17906106,17900288,17893434,17875181,17869653,17845309,17785916,17785583,17767551,17767549,17726164,17722421,17714903,17714036,17688234,17686102,17681393,17678725,17673320,17662002,17661909,17653284,17652848,17641683,17631742,17629023,17610416,17605936,17592398,17588142,17586554,17584585,17584581,17578052,17578051,17576097,17573956,2998758,11048639,11827988,15489916,17652306,18481581,18451182,18450852,18449200,18447907,18433881,18427198,18408266,18401547,18396213,18390988,18385790,18372357,18356750,18356404,18352820,18351579,18345414,18339073,18332098,17119950,17106278,17062033,17050030,17047287,17026464,17016821,17002906,17002902,16988007,16969536,16966600,16964961,17124999,16948649,16941709,16939368,16922942,16916662,16916661,16911023,16905561,16893387,16891216,16890179,16890076,16883543,16883536,16883535,16879749,16879301,16878175,16875346,16866885,16866883,16865785,17559577,17554059,17541908,17538887,17531857,17513705,17498269,17489940,17489060,17484883,17484621,17461431,17460569,17445173,17445172,17438108,17437273,17433060,17407088,17406941,17406854,17406641,17392350,17389030,17389015,17389012,17388766,17387388,17379283,17378697,17370149,17364902,17350686,17349874,17344279,17334650,17329717,17325942,17318773,17311339,17310371,17306585,17305280,17301827,17297265,17287608,17257319,17257313,17256150,17237562,17234427,17212715,17212706,17207713,17203524,17203517,17190762,17180363,17162989,17153701,17144392,17143607,17130569,17130566,17130528,17129633,17559688,17126830,16857416,11543893,11532022,11502807,11495087,11484084,11477477,11476906,11476905,11474874,11469465,11454644,11424637,11423179,11423178,11423176,11393660,11347740,11345587,11334677,11334675,11334427,11327387,11318984,11317658,11296153,11294566,11291046,11288988,11285131,11285127,11260508,11257148,11250046,11250044,11246532,11239517,11233253,11229460,11218373,11195230,11182227,11181188,11179016,11171832,11169248,11169242,11169241,11169240,11165718,11165717,11158011,11157139,11124840,11120931,11118314,11118029,11115839,11098940,11098934,11097225,11082517,11082516,11082515,11064106,11053637,11045836,11034591,11027344,11024583,10998087,10661406,10323344,9802612,9458130,9296067,9271631,8988543,8988541,8929711,8525485,8146865,8072542,7547576,6954511,6952552,6952222,6585297,6576979,6422542,6415003,6316358,6206493,3584986,3494717,3494674,3458223,3371836,3259543,3129499,3117885,3036828,3020127,2925231,2897347,2895927,2894075,2892884,2890689,2888727,2886427,2881947,2777341,2494138,2464826,2308943,2212675,2187469,2050393,2022497,2010218,1490342,1412415,17936227,8084338,9079699,8376762,7602119,3489470,10729169,7541827,2846691,2543930,1978941,16189514,11376336,9036956,16849401,16836882,16829309,16829307,16803690,16803516,16802776,16799707,16796128,16792673,16783473,16781300,16769963,16731854,16720217,16720210,16712649,16709874,16698430,16691379,16640876,16629714,16614815,16604509,16579847,16573562,16567828,16540751,16509868,16507114,16484124,16473309,16464953,16453260,16451208,16441489,16441488,16437632,16433795,16430717,16426242,16425277,16420246,16409268,16405603,16393997,16390391,16386650,16386646,16365741,16358956,16352685,16343061,16337001,16320082,16303674,16297186,16277691,16276008,16267776,16261886,16254435,16245224,16237774,16234023,16231148,16225776,16208405,16201295,16188098,16180280,16158194,16157380,16148166,16142706,16133177,16125818,16122986,16112030,16112029,16109069,16107953,16107511,16101833,16096857,16096810,16078082,16053028,16049290,16043129,16042197,16042135,16029431,16025255,16019679,16011982,16005527,16005098,15996167,15993720,15993714,15991024,15985473,15982255,15969672,15958261,15941540,15935893,15908298,15906352,15902698,15885635,15871822,15858601,15854524,15853909,15853903,15853900,15853898,15851575,15846589,15842729,15833172,15826953,15825968,15789899,15786423,15785242,15784113,15756536,15750822,15747244,15735807,15734871,15725578,15713222,15712014,15708894,15703957,15703453,15699512,15699508,15699500,15699400,15696102,15691311,15666025,15664787,15663743,15661220,15660729,15655774,15652424,15645749,15640608,15617864,15613143,15603876,15603874,15602651,15577839,15572392,15565951,15561961,15556690,15548263,15546341,15536412,15531903,15530631,15529553,15522921,15507397,15496208,15496201,15496200,15489334,15479890,15476187,15476152,15471889,15471368,15452304,15449022,15448101,15388265,15373622,15361135,15357778,15350494,15336786,15336779,15336778,15334474,15310011,15309343,15305487,15305234,15304010,15302166,15301976,15301863,15301861,153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3119 XM_001722253,XM_001723447,AB002468,AB211231,AF087939,AF091305,AF093815,AF112463,AF112464,AF181983,AF184982,AF209127,AF307153,AF307154,AF307155,AF307156,AF384556,AF439338,AF463516,AF469118,AF479569,AF506754,AJ001256,AJ001257,AJ012155,AJ012156,AJ012325,AJ223253,AJ290396,AJ507786,AJ535315,AJ557776,AJ566407,AJ854065,AJ964903,AL662789,AL731683,AL935026,AM181332,AM231062,AM259941,AM259942,AM279416,AM293569,AM409256,NM_002123,AY663396,AY663397,AY663398,AY663399,AY663400,AY663404,AY663405,AY663406,AY663407,AY663408,AY663409,AY663410,AY663411,AY663412,AY663413,AY663414,AY663415,AY672649,AY733062,AY762968,AY950597,AY950598,AY950599,AY026349,AY036896,AY036897,AY094140,AY124588,AY312054,AY333122,AY334565,AY375842,AY375843,AY375844,AY375845,AY375846,AY375847,AY375848,AY375849,AY375850,AY375851,AY375852,AY375853,AY375854,AY375855,AY375856,AY375857,AY375858,AY375859,AY375860,AY375861,AY375862,AY375863,AY375864,AY375865,AY375866,AY375867,AY375868,AY375869,AY375870,AY375871,AY375872,AY375873,AY619719,AY663393,AY663394,AY663395,AY950601,AY950602,AY950603,AY950604,AY950605,AY950606,AY950607,AY950608,AY999071,AY999072,AY999073,AY999074,AY999075,AY950600,BX927168,M21135,M22549,M22550,M24364,M25024,M25025,M25325,M25326,M25327,M26042,M32577,M33907,M35730,M35982,M57649,M57650,M20505,CH471311,CR753846,D29918,D78569,DQ026226,DQ114427,DQ179039,DQ227421,DQ503425,DQ503572,DQ503573,K01499,K02405,M59800,M59801,M60028,M81140,M81141,S79787,U63321,U66400,U83582,U83585,V00529,X00369,X03068,X96420,M17958,M15809,M20332,M20333,M27657,M36472,M65038,M65039,M65040,M65041,M65042,M65043,M65044,M65046,M65047,M65048,M65049,M65050,M65051,M65052,M86740,S53999,U07848,U33329,U39086,U39090,U39809,U39821,U39822,U39825,U77344,U92032,Y10428,Y17290,Z35099,AB209580,AB209638,AF000447,AF113250,AF195245,AF291674,AK097297,AY656681,AY656682,AY656683,BC012106,BC128595,BQ012862,CR615403,DC409119,DQ136036,J00198,L34095,L34096,L34097,L34098,L34099,L34100,L34101,L34102,L34103,L34104,L34105,L34106,L34107,L40179,L40180,L40181,M13279,M14189,L42626,M16276,M16996,M17204,M17206,M17207,M17563,M17564,M17565,M17955,M19239,M20432 NP_002114,XP_001722305,XP_001723499,BAA19528,BAD95610,AAD39697,AAC64403,AAC64605,AAD23990,AAD23991,AAD54423,AAD56412,AAF63192,AAK17120,AAK17121,AAK17122,AAK17123,AAM53072,AAL35222,AAL66389,AAL77085,AAM09472,AAM28883,CAA04630,CAA04631,CAA09928,CAA09929,CAA09990,CAA11215,CAC27418,CAD47822,CAD59445,CAD89801,CAD97476,CAH69441,CAI79639,CAI18231,CAI18445,CAI18446,CAJ57391,CAJ76977,CAJ76978,CAJ90955,CAJ90956,CAK50560,CAL25326,AAU87980,AAU87982,AAU87986,AAU87988,AAU87991,AAU87994,AAU88002,AAU88006,AAU88009,AAU88012,AAU88015,AAU88017,AAU88020,AAU88024,AAU88027,AAU88030,AAU88032,AAU88036,AAT77952,AAU33811,AAV97949,AAX22127,AAX22128,AAX22129,AAK01944,AAK96012,AAK96013,AAM14401,AAM94360,AAP78473,AAP93137,AAP94731,AAQ88016,AAQ88017,AAQ88018,AAQ88019,AAQ88020,AAQ88021,AAQ88022,AAQ88023,AAQ88024,AAQ88025,AAQ88026,AAQ88027,AAQ88028,CAL64838,AAQ88029,AAQ88030,AAQ88031,AAQ88032,AAQ88033,AAQ88034,AAQ88035,AAQ88036,AAQ88037,AAQ88038,AAQ88039,AAQ88040,AAQ88041,AAQ88042,AAQ88043,AAQ88044,AAQ88045,AAQ88046,AAQ88047,AAT39543,AAU87973,AAU87977,AAX22130,AAX22131,AAX22132,AAX22133,AAX22134,AAX22135,AAX22136,AAX22137,AAX22138,AAY33730,AAY33731,AAY33732,AAY33733,AAY33734,Q30076,Q30077,Q30078,Q30079,Q30080,Q30081,Q30083,Q30084,Q30088,Q30090,Q30091,Q30092,Q30093,Q30094,Q30096,Q30097,Q30098,Q30099,Q30100,Q30102,Q30121,Q30132,Q30133,Q30146,Q30153,Q30155,Q30202,Q31633,Q38I47,Q3LTJ5,Q45FY0,Q45UE3,Q4VC54,Q4VC55,Q4VC56,Q4VC57,Q4VC58,Q53I44,Q564J6,Q59F23,Q59F80,Q5BLN0,Q5BLN1,Q5BLN2,Q5BLN3,Q5BLN4,Q5BLN5,Q5BLN6,Q5BLN7,Q5BLN8,Q5BLN9,Q5BLP0,Q5BLP1,Q5G841,Q5ISH1,Q5ISH3,Q5SP12,Q5W1E1,Q5Y7A9,Q5Y7B2,Q5Y7B5,Q5Y7D0,Q5Y7D3,Q30075,Q5Y7D6,Q5Y7F1,Q5Y7F6,Q5Y7G8,Q643R4,Q67AI7,Q67AI8,Q67AI9,Q67AJ0,Q67AJ1,AAA59773,AAA59767,AAA59820,AAA59821,AAA36236,AAA59792,AAA59793,AAA59675,AAA59676,AAA59677,AAA36270,AAA59768,AAA52672,AAA59763,AAA36251,AAA63217,CAQ08746,EAW50577,EAW50578,EAW50579,EAW50580,EAW50581,CAQ09754,CAQ09755,CAQ09756,CAQ09757,BAA06217,BAA11413,AAY89656,AAZ20753,ABA06597,ABB05231,ABF50985,ABF56580,ABF56581,AAA98746,AAA63216,AAA64235,AAA64234,AAA59755,AAA59771,AAA59772,AAD14316,AAB05807,AAB51698,AAB41231,AAC02814,CAA23788,CAA26872,CAA65280,A0AQY9,O19506,O19632,O19707,O19709,O19710,O19711,O19712,O19714,O19715,O19741,O19764,O46871,O62861,O78045,O78046,O78198,O78219,O78220,O78222,O78224,O98034,O98201,O98202,O98213,O98214,P01918,P01919,P01920,P03992,P05537,P79526,P79544,P79551,Q08GC8,Q09035,Q0E4V9,Q0E4W4,Q0JW41,Q0VJC4,Q12862,Q14QT3,Q1HCM3,Q1HCM4,Q1HCN6,Q1M312,Q1M313,AAA59577,AAA75521,AAA36271,AAA59775,AAA59776,AAA59762,AAA03249,AAA36237,AAA36238,AAA36239,AAA36240,AAA36241,AAA36242,AAA36243,AAA36245,AAA36246,AAA36247,AAA59709,AAA59710,AAA59711,AAA59712,AAA59778,AAB25221,AAB60325,AAA77049,AAA93181,AAB02681,AAD00003,AAD00006,AAD00007,AAD00008,AAB19215,AAB91991,CAA71450,CAC19575,CAA84482,BAD92817,BAD92875,AAB86436,AAD17203,AAF28315,AAK91824,BAC04995,AAV71028,Q29712,Q29731,Q29755,Q29784,Q29785,Q29877,Q29883,Q29884,Q29900,Q29915,Q29916,Q29917,Q29922,Q29965,Q29967,Q29969,Q29970,Q29996,Q29997,Q29998,Q29999,Q2A662,Q2A663,Q2P9N3,Q2QK85,Q30001,Q30002,Q30003,Q30004,Q30005,Q30007,Q30061,Q30074,AAV71029,AAV71030,AAH12106,AAI28596,AAZ67362,AAA59788,AAC41963,AAC41964,AAC41965,AAC41966,AAC41967,AAC41968,AAC41969,AAC41970,AAC41971,AAC41972,AAC41973,AAC41974,AAC41975,AAC41976,AAA92331,AAA92332,AAA59807,AAA36268,AAA59823,AAA85335,AAA59770,AAA59698,AAA59696,AAA59697,AAA59764,AAA59765,AAA59766,AAA36269,AAA52319,AAA59769,Q67AL6,Q67AL7,Q67AL8,Q6B9X1,Q6IVL2,Q70VH8,Q7YP59,Q7YP69,Q7YPW2,Q7YQ08,Q860H9,Q8HWH0,Q8HWM9,Q8MGZ6,Q8MH58,Q8MHQ2,Q8N855,Q8SNB4,Q8SNB9,Q8SND1,Q8SP70,Q8WLT6,Q8WMA3,Q95466,Q95HL3,Q95IH2,Q9BCT8,Q9BCT9,Q9BCU0,Q9BCU1,Q9BD17,Q67AJ3,Q67AJ4,Q67AJ5,Q67AJ6,Q67AJ7,Q67AJ8,Q67AJ9,Q67AK0,Q67AK1,Q67AK2,Q67AK3,Q67AK4,Q67AK5,Q67AK6,Q67AK7,Q67AK8,Q67AK9,Q67AL0,Q67AL1,Q67AL2,Q67AJ2,Q67AL3,Q67AL4,Q67AL5,Q9GIK3,Q9MYG8,Q9MYH2,Q9TNR6,Q9TNR7,Q9TNT9,Q9TPA8,Q9TPA9,Q9TQ76,Q9TQ90,Q9TQE3,Q9TQE4,Q9XRY6,Q9XRY7,Q9XRZ2,ABM83224,ABM86423 Hs.409934,Hs.534322 GDB:120517 CELIAC1|HLA-DQB|IDDM1 protein-coding 1354401 HLA-DQB2 major histocompatibility complex, class II, DQ beta 2 1580863 2564844,14730600,14702039,14574404,12477932,11334674,11118314,10661406,9458130,8568858,3858830,3036828,10729169,8084338,9079699,8376762,7602119,3489470,12427289,8168144,7541827,2846691,2543930,7512597,1978941,1967269,1869305 3120 M24921,M24922,M24923,M83890,X87344,Z84490,AK098007,BC031995,AL671681,AL672104,AL713890,AL773543,BX927168,CH471081,M24920,NR_003937 AAA52668,AAA52669,AAA52670,CAA60790,AAH31995,CAI17706,CAI17707,CAI18438,CAI18439,CAI17620,CAI17621,CAI18491,CAI18493,CAI18494,CAI41828,CAQ08747,EAX03635,EAX03636,EAX03637,AAA52667 Hs.409934 GDB:120640 HLA-DQB1|HLA-DXB pseudo 1344963 HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 1580863 3372263,2571586,2495625,1529427 3121 M35000 AAA35774,Q29783 GDB:132667 D6S205|D6S205E|DQB3|DVB|DVbeta|HLA-DVB protein-coding 1344093 HLA-DRA major histocompatibility complex, class II, DR alpha HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. 1580863 6304715,6812963,8890155,11048639,11827988,15489916,17652306,18371160,17662350,17660530,16341674,15836703,15688398,15536412,15489334,15467430,15361126,15301866,15105429,14976194,14736971,14574404,12932352,12707403,12580031,12477932,12445311,12373032,12370403,12244309,12230470,12202216,12117677,12074713,12073071,12006557,11927549,11854199,11777970,11751963,11742191,11464148,11361223,11320565,11298540,11294926,11260509,11239948,11181188,11168931,11118314,11070170,10716924,10661406,10480952,9782128,9759843,9371817,9354468,9310842,8920889,8773319,8649448,8574855,8454872,8316295,8152483,8145819,7912458,7835916,7648393,7629508,7519244,7477400,6955253,6955026,6952234,6952207,6821129,6811954,6422542,6416803,6403940,6324094,3266023,2212658,1905983,1512535,1448091,8084338,9079699,8376762,7602119,3489470,15784911,10729169,16973583,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,16454711,16354571,16091223,12970439,15194762,15078178,12836198,11593029,16189514,9700202 3122 M60333,M60334,V00523,V00528,NG_002392,NM_019111,AF481359,AL662796,AL670296,AL935032,BX120007,CH471081,J00201,J00203,J00204,V00524,X00274,AI492718,BC032350,BC071659,BM849755,CR457013,CR590143,CR594558,CR596644,CR613451,CR622870,J00193,J00194,K01171,M35979 AAA59787,AAA59783,CAA23782,CAA23787,O19670,O19716,O19720,P01903,Q29868,Q30118,Q59GE3,Q5SP06,Q7M2H6,ABM82521,ABM85715,AAA36283,NP_061984,AAO23887,CAI18266,CAI18267,CAI17571,CAI17572,CAI18476,CAI18477,CAM26203,CAM26204,EAX03629,EAX03630,EAX03631,AAA36301,AAA36302,CAA23783,CAA25076,AAH32350,AAH71659,CAG33294,AAA36272,AAA36275,AAA59785 Hs.520048 GDB:120641 HLA-DRA1 protein-coding 1349823 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. 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3123 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AAX63454,AAX63456,AAX63460,AAX63461,AAX63464,AAX63465,AAX63466,AAH07920,AAH08403,AAH24269,AAH31023,AAH33827,AAI08923,BAA13086,AAY21682,AAY96423,AAZ76539,AAA59777,AAA67104,AAL40069,AAA59781,AAA36274,AAA36289,AAA59799,AAA59800,AAA59809,AAA59810,AAA36279,AAA36280,AAA36281,AAA59801,AAA59805,AAA36295,AAA59831,AAA59827,AAB59623,AAA93192,AAA67123,AAA59789,AAA99889,AAA93191,AAA74994,AAL40075,AAA59798,AAA59713,AAA59817,AAA72783,AAA35775,AAA36290,AAA36298,AAA52321,AAA52324,AAC41708,AAC41709,AAA36273,AAA91837,AAA59481,AAA59779,CAC44767,CAD22866,CAD23046,CAD24479,CAD29646,CAD47818,CAD62436,CAD65908,CAD87537,CAD88257,CAD89003,CAD90053,CAD90054,CAD92860,CAE30289,CAE46451,CAE46444,CAH61416,CAI35917,CAI59633,CAC19360,CAI18081,CAJ00865,CAJ33582,CAJ33583,CAJ33584,CAJ33585,CAJ33586,CAJ33587,CAJ33588,CAJ33589,CAJ33591,CAJ33592,CAJ33593,CAJ33594,CAJ33595,CAJ33599,CAJ33600,CAJ33601,CAJ33603,CAJ33604,CAC33572,AAB92519,AAC05276,AAD03597,AAD16437,AAD29581,AAD24059,AAD31288,AAD31291,AAD31293,AAD31294,AAD31296,AAD31297,AAD31298,AAD31299,AAD31300,AAD31301,AAD31302,AAD31305,AAD31306,AAD31308,AAD31311,AAD31312,AAD38374,AAD51314,AAD51969,AAD51970,AAF08286,AAF03162,AAF32310,AAF59946,AAG00413,AAF87751,AAG17449,AAK08492,AAK08493,AAK08504,AAK20873,AAK27708,AAK27709,AAK27710,AAK27713,AAK51524,AAK51525,AAK54252,AAK85431,AAK96249,AAL35224,AAM09473,AAM09543,AAM18713,CAA04626,CAA04627,AAF65501,AAA57260,AAA57259,AAA59794,AAA81550,AAA59680,AAA59681,AAA59842,AAA59782,AAA17992,AAA79205,AAC02715,AAD43827,AAD00817,CAA25295,CAA26660,CAA26873,A0AQX7,A0AQX8,A0AQX9,A0AQY0,A0AQY2,A0AQZ0,A0AQZ1,A0AQZ2,A0AQZ3,O00430,O02930,O19502,O19517,O19547,O19587,O19592,O19594,O19599,O19660,O19664,O19696,O19723,O19731,NP_002115,BAA22609,BAB03347,BAB16681,BAC02938,BAC02939,BAC66086,BAD15071,BAD80735,AAB70217,AAB94613,AAF65477,AAF65479,AAF65480,AAF65481,AAF65482,AAF65483,AAF65484,AAF65485,AAF65486,AAF65487,AAF65488,AAF65498,AAF65499,AAA03142,AAD14052,AAA53174,AAA91986,AAA75372,AAA79784,AAA79830,AAA87226,AAB06950,AAB08761,AAB63317,CAA34642,CAA36690,CAA45844,CAA52390,CAA61324,CAA68151,CAA70858,CAA75604,CAA76721,CAA76722,CAA86217,AAB81176,AAB70554,AAB70555,AAK91825,AAL30416,CAC08823,CAC08825,CAC08826,CAC08827,CAG27025,CAG27026,AAV34808,AAV28303,AAX33315,AAX63450,AAX63451,AAX63453,CAJ33607,CAJ33608,AAK31608,AAK31609,AAK31610,AAK61607,AAK67648,AAN38832,AAO49837,AAO17052,AAO17055,AAO23240,AAP21611,AAP21813,AAP23231,AAR29079,AAR10883,AAR98646,AAR98758,AAS19443,AAT72340,AAU87979,AAU87993,AAU88003,AAU88005,CAJ33606,AAU88008,AAU88014,AAU88018,AAU88023,AAU88029,AAU88033,AAU88035,AAW57989,AAU44812,AAW47394,AAV52249,AAY17288,EAX03633,BAA08086,BAA08628,BAA10906,BAA13099,BAA20564,AAY59543,AAZ16488,ABA06601,ABC59115,ABF74596,ABH03635,AAA59808,AAA75387,AAA51400,CAA04628,CAA09450,CAB76922,CAB41972,CAB42824,CAB45249,CAB56638,CAB56284,CAB87811,CAB95662,CAC05373,CAC08181,CAC32843,O19786,O19791,O46873,O62889,O77962,O77969,O77970,O77971,O78037,O78047,O78048,O78080,O78184,O95729,O98046,P01912,P04229,P79494,P79548,P79550,P79604,P79605,P79606,Q06653,Q06RK2,Q07122,Q0GB79,Q0PGR5,Q0PQ39,Q0Z850,Q13365,Q13750,Q14280,Q14FK6,Q14FK7,Q14FK8,Q14QT2,Q19A33,Q19K82,Q19K83,Q19K84,Q19K86,Q1AP33,Q1EIR2,Q1G0Z7,Q1G0Z8,Q1G0Z9,Q1G100,Q1JRP3,Q1JRP4,Q1KLJ6,Q202I5,Q27PR6,Q29632,Q29648,Q29649,Q29650,Q29685,Q29688,Q29690,Q29692,Q29706,Q29711,Q29713,Q29719,Q29720,Q29723,Q29725,Q29727,Q29744,Q29769,Q29772,Q29791,Q29792,Q29796,Q29798,Q29799,Q29800,Q29802,Q29804,Q29805,Q29816,Q29821,Q29830,Q29833,Q29834,Q29874,Q29901,Q29905,Q29918,Q29919,Q29957,Q29979,Q2A120,Q2HPT8,Q2LDE4,Q2LE76,Q2MJA6,Q2PBC3,Q2PZR1,Q2VQU1,Q2YHQ2,Q30110,Q30113,Q30114,Q30119,Q30120,Q30122,Q30123,Q30124,Q30127,Q30128,Q30129,Q30130,Q30134,Q30156,Q30157,Q30159,Q30164,Q30165,Q31636,Q31638,Q3T919,Q3T976,Q45FZ4,Q45G73,Q45G74,Q45G75,Q45W57,Q4A1G9,Q4A1S0,Q4F6M6,Q4JH26,Q4PRC3,Q4PRC4,Q4U4M7,Q4VZY7,Q4ZJJ2,Q53IG1,Q546B9,Q56FN4,Q56FN6,Q56FP7,Q58F52,Q5BM92,Q5CC31,Q5DKQ6,Q5DUF5,Q5ID26,Q5K3W3,Q5NDA2,Q5NT90,Q5U8S4,Q5UT58,Q5W3L4,Q5XWD6,Q5Y7C5,Q6DMR0,Q6GYF6,Q6J8I8,Q6LBW7,Q6LBW8,Q6PYB1,Q6QUQ1,Q6RCM2,Q6RCP7,Q6T713,Q6T718,Q6T862,Q6WIG6,Q6WIG7,Q701T1,Q702H0,Q70GL2,Q70IU8,Q3MQ60,Q70Q85,Q75NJ4,Q7YNY9,Q31640,Q31643,Q3HUP9,Q3KTM1,Q3LA84,Q3LA85,Q3LA86,Q3LA87,Q3LA88,Q3LA89,Q3LA90,Q3LA91,Q3LA92,Q3LA93,Q3LA94,Q3LA95,Q3LA96,Q3LA97,Q3LA98,Q3LA99,Q3LAA0,Q3LAA1,Q3LAA2,Q3LAA3,Q3LAA4,Q3LAA5,Q3LAA6,Q3LAA7,Q3LAA8,Q3LAA9,Q3LAB0,Q3LAB1,Q3LAB2,Q3LAB3,Q3LAB4,Q3LAB5,Q3LAC2,Q3LAC3,Q3LAG4,Q3LRY0,Q3LTJ3,Q3LTJ4,Q3LTJ8,Q3LTK0,Q7YP03,Q7YPW3,Q7YPZ4,Q7YQ26,Q7YQ27,Q7YQ99,Q7YQA3,Q7YQA6,Q7YQA7,Q860E1,Q860E4,Q860E6,Q860I2,Q860I3,Q860I8,Q860S9,Q860T0,Q860V5,Q860Y4,Q860Y8,Q860Z3,Q861A4,Q861B0,Q861C6,Q861F8,Q861G1,Q861G3,Q861G6,Q861H0,Q861H3,Q861H6,Q8HWN2,Q8HWN3,Q8HWS6,Q8HWS9,Q8MGY2,Q8MGY6,Q8MGZ2,Q8MGZ7,Q8MH59,Q8SNC0,Q8SNC2,Q8SND0,Q8SP67,Q8SP68,Q8WLQ7,Q8WLR9,Q8WLS0,Q8WMA0,Q8WMA1,Q95354,Q95379,Q95381,Q95382,Q95384,Q95HK2,Q861H4,Q95HK6,Q95HK7,Q95HL8,Q95HN2,Q95HN3,Q95IF0,Q95IF1,Q95IG2,Q95IG7,Q95IT4,Q96HZ9,Q99947,Q9BCM2,Q9BCM3,Q9BCN3,Q9BCP4,Q9BCP6,Q9BCP7,Q9BCP8,Q9BCP9,Q9BCS7,Q9BD02,Q9BD21,Q9BD24,Q9BD27,Q9BD34,Q9GIL1,Q9GIL6,Q9GIY1,Q9GIY2,Q9GIY6,Q9GIY9,Q9GJ37,Q9GJ57,Q9GJ58,Q9GJ59,Q9GJE9,Q9GJF8,Q9GJF9,Q9GJG1,Q9MXZ1,Q9MXZ3,Q9MXZ4,Q9MY03,Q9MY04,Q9TQ70,Q9TQ83,Q9UIN0,Q9UM29,Q9UM34,Q9UQT8,Q9XRW9,Q9XRX1,Q9XRY4,Q9Y4H8,Q9TQ61,Q9TQ63,Q9MY06,Q9MY16,Q9MY17,Q9MY29,Q9MY45,Q9MY46,Q9MY65,Q9MY77,Q9MY83,Q9MYC2,Q9MYD9,Q9MYG3,Q9TP92,Q9TP93,Q9TP94,Q9TPB7,Q9TPW1,Q9TPW2,Q9TPW3,Q9TPW8,Q9TPX0,Q9TQ23,Q9TQ38,Q9TQ39,Q9TQ40,Q9TQ43,Q9TQ45,Q9TQ46,Q9TQ48,Q9TQ49,Q9TQ50,Q9TQ51,Q9TQ52,Q9TQ53,Q9TQ54,Q9TQ55,Q9MY05,Q9TQ57,Q9TQ58 Hs.534322,Hs.701691 GDB:120642 DRB1|HLA DRB1|HLA-DR1B|HLA-DRB1* protein-coding 1352496 HLA-DRB2 major histocompatibility complex, class II, DR beta 2 (pseudogene) 18466483,12477932,12133402,8436426,6947956,3571980,3129499,3032786,1541486 3124 NG_002392,AL049740,AL662842,M16274,M16275,M86691 P01911,Q29974 GDB:120643 HLA-DR2B|MGC120245 pseudo 1343169 HLA-DRB3 major histocompatibility complex, class II, DR beta 3 HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. 1580863 11827988,15489916,17652306,17927716,17911430,17910142,17763415,17714554,17714418,17583734,17559577,17509091,17182961,17153701,17106278,17006990,17002906,16929349,16916662,16879749,16815190,16426242,16405603,16320316,16200610,15908298,15902698,15896200,15652424,15620466,15531903,15496209,15496200,15489334,15041167,14677183,14574404,14508706,12956878,12694584,12477932,12392858,12296785,12230470,12209103,12202216,12144632,12144619,12144077,12133402,12008082,11997714,11894954,11872240,11782380,11751963,11380956,11182227,11169267,6414998,11144299,10609818,8775462,11048639,11169247,11118314,11098940,11082517,11027344,10958362,10902611,10661406,9802612,9389331,9373149,9243765,9234494,9234492,9223324,9162096,8500529,8462990,8125298,8016840,7477400,6589154,6415003,3476943,3466180,3459965,3372263,3110774,3020126,3012569,2497068,2493052,2471740,1905983,8084338,9079699,1908841,8376762,7602119,3489470,15784911,16973583,10729169,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,16189514 3125 NM_022555,NG_002392,AF026467,AF028012,AF028589,AF058294,AF081677,AF092089,AF092176,AF132810,AF148518,AF152844,AF152845,AF177216,AF208484,AF208485,AF361865,AF427138,AF427139,AF455114,AF461431,AJ001255,AJ238155,AJ242860,CH471081,DQ011880,DQ064701,DQ179035,DQ179037,DQ250650,DQ309438,DQ311653,DQ343834,DQ518875,M13561,M13562,M35004,U36826,U94590,X04055,X04058,X04059,X65558,X65559,X65560,X95760,X99771,AJ242862,AJ290395,AJ315477,AJ441058,AJ507784,AJ507785,AJ555542,AJ564210,AL662842,AL929581,AY033875,AY036908,AY042679,AY094138,AY271986,AY291205,AY958608,AJ242861,AF199236,AK226043,AY138123,BC001023,BC008987,BC106057,CR592036,CR600239,CR609601,CR609994,CR625333,M16941,M17380,M28991,M28992,U66825,U95819,U95820,V00522,A06800,Y08063,Y10180,Y10553,Y13715,AF000448,AF192258,AF192259 NP_072049,AAC05599,AAB94614,AAB84139,AAC13718,AAC32202,AAC64135,AAC64137,AAD30528,AAF67837,AAD45285,AAD45286,AAD53911,AAF23165,AAF23166,AAK38297,AAL26538,AAL26539,AAL57866,AAL66370,CAA04629,CAB41973,CAB62390,EAX03632,AAY40255,AAY59415,ABA06593,ABA06595,ABC59072,AAY28717,ABC40506,ABC33924,ABC70992,ABG33842,AAA59796,AAA59797,AAA52326,AAB63531,AAB53324,CAE82045,CAE82072,CAE82039,CAA46528,CAA46529,CAA46530,CAA65066,CAB62391,CAB62392,CAC27417,CAC86562,CAD29670,CAD47820,CAD47821,CAD88258,CAD91915,CAI17549,CAI18691,AAK59387,AAK67649,AAK94514,AAM14399,AAP23230,AAP43643,AAF13065,Q3LTJ9,Q4PNL5,Q4U4M5,Q507L8,Q5SP44,Q5STE0,Q6LBW5,Q6LBW6,Q6LBW9,Q6YJU6,Q70M87,Q7JFU8,Q7YPT7,Q7YQ62,AAN15205,AAH01023,AAH08987,AAI06058,AAA36282,AAA59804,AAA36291,AAA36285,AAD43828,AAD00819,AAD00820,CAA23781,O02875,O19507,O19590,O19593,O19726,O46701,O46794,O62902,O78162,O78187,O78188,O78199,P01913,P13761,P79483,Q0PQ40,Q15BP8,Q2F6I0,Q2PPD0,Q30131,Q30135,Q30137,Q860I9,Q860Y7,Q8HWN0,Q8HWN1,Q8MGY5,Q8SNB6,Q8SP69,Q8WLT7,Q8WLT8,Q95358,Q95HM7,Q95HM8,Q95IE5,Q95IE9,Q95IF8,Q9BCP3,Q9BD18,Q9TP01,Q9TP02,Q9TQ22,Q9TQD7,Q9TQP2,Q9UBW6,Q9UIN3,Q9UIN4,Q9UIN5,Q9UQT9,Q3LTJ7,CAA68104,CAA69301,CAA71253,CAA71585,CAA74043,AAB86437,AAF26358,AAF26359,CAA00596 Hs.534322 GDB:120644 HLA-DR3B|MGC117330 protein-coding 1345500 HLA-DRB4 major histocompatibility complex, class II, DR beta 4 HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. 1580863 10425186,8775462,18223493,17910142,17893434,17763415,17491100,17310371,17237562,17182961,17153701,17106278,17021767,17002906,16815190,16690413,16634878,16629714,16441501,16405603,15982264,15908298,15902698,15896200,15730527,15721314,15513680,15191532,15188377,15140072,15055474,15046556,14677183,14574404,14558083,14508706,12956878,12859598,12541760,12477932,12392858,12391221,12358860,12296785,12230470,12209103,12202216,12144632,12144077,12121280,12008082,11997714,11972878,11751963,11532019,11118314,11082517,11034566,10717810,10703621,10661406,10551425,9952022,9500545,9373149,9354468,9243754,9234493,9223324,9162096,9098937,9062971,9027964,8344726,8125298,8085262,7792759,7652736,7528725,3875800,3860851,3596674,3476943,3467350,3458223,3372263,3174462,3110774,3099214,3036826,3020127,3015788,2592019,2511168,2466818,2212675,2023919,1905983,1612646,1428007,1358866,8084338,9079699,8376762,7602119,3489470,15784911,16973583,10729169,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305 3126 AY174092,AY195616,AY195618,AY283604,AY339246,AY394720,AY428805,AY465114,AY663410,AY724685,AY750899,AY772533,AY899825,BX120007,BX296568,BX571807,CR788250,D50865,D64042,D86502,D86503,D89879,D89918,DQ011879,DQ136035,DQ179038,DQ358688,EF536016,K02775,L08621,L14852,L34353,M15838,M20555,M27509,M27510,M27644,M35006,M63195,M63200,M74030,M74031,M81176,M96130,U03291,U03721,U09200,U26659,U36827,U39087,U41490,U41491,XM_001723417,XM_001723419,NM_021983,NG_002433,AB049459,AB107960,AB112911,AB207269,AF028010,AF029284,AF029287,AF036944,AF142448,AF144081,AF177215,AF207709,AF214572,AF227518,AF305212,AF324240,AF335233,AF352295,AF450317,AJ131789,AJ223124,AJ242833,AJ243701,AJ252282,AJ289123,AJ292564,AJ293725,AJ297503,AJ401236,AJ812566,AJ870921,AL929581,AM086025,AM109974,AY033428,AY043181,AY174091,XM_001723414,U37433,U47028,U70544,U70545,X65567,X99839,Y09313,AF017439,AF048707,AF361548,AF361549,AI829825,AK225683,AK225690,AK291499,AK293020,AY961064,AY961067,AY961070,BC005312,BF974249,CR610561,DQ284431,DQ284433,U59686,M14190,M15071,M15178,M16732,M16942,M17385,M17388,M30180,M59803,S48645,U17379,U29342,U35375,U35729 AAA86244,P79499,P79491,P79552,P79664,Q05563,Q0PGS7,Q0VUQ9,Q19AF2,Q1KLJ9,Q27PR7,Q29635,Q29651,Q29668,Q29671,Q29696,Q29717,Q29722,Q29726,Q29728,Q29732,Q29735,Q29736,Q29745,Q29770,Q29771,Q29786,Q29803,Q29813,Q29818,Q29869,Q29888,Q29889,Q29890,Q29893,Q29895,Q29902,Q29904,Q2A128,Q2HZE5,Q2L4U2,Q2L9H4,Q2LIR3,Q2LIR4,Q2LIR5,Q2MF40,Q2MZ92,Q30008,Q30103,Q30104,Q30106,Q30107,Q30112,Q30143,Q30147,Q30152,Q30162,Q30163,Q30179,Q30200,Q31624,Q31635,Q31639,Q31642,Q31646,Q3LAB6,Q3LAB7,Q3LAB8,Q3LAB9,Q3LAC0,Q3LAC1,Q3LTJ6,AAO20089,AAO43050,AAO43051,AAQ18120,AAQ18913,AAQ96922,AAR07616,AAR28666,AAU88021,AAW59561,AAV38129,AAV38108,AAW82078,CAM26205,CAM25996,CAM25971,CAQ07647,BAA09461,BAA10907,Q45FY1,Q45KF7,Q4F6M7,Q4U0U6,Q4U4M6,Q50EW5,Q53YS1,Q53ZR8,Q56FN5,Q56FN7,Q56FN8,Q56FP1,Q56FP2,Q56FP3,Q56FP5,Q58HT8,Q59HP9,Q5IFG9,Q5IWM0,Q5K3W2,Q5NDB9,Q5U9D1,Q5Y7A7,Q5Y7C2,Q5Y7D1,Q5Y7D7,Q5Y7G0,Q5Y7G6,Q5Y7G9,Q683P7,Q6QJL9,Q6RCP8,Q6S5I0,Q6T865,Q6TLK6,Q6UB42,Q6Y1S2,Q768U4,Q7JFU9,Q7YP04,Q5EER6,Q7YPZ5,BAA13097,BAA13098,BAA14036,BAA14037,AAY40254,AAZ67361,ABA06596,ABC84557,ABQ08747,AAA59802,AAA59691,AAC37561,AAA73900,AAA52769,AAA59830,AAA59815,AAA59816,AAA72782,AAA52327,AAA52320,AAA52323,AAA62840,AAA62839,AAA91843,AAA03144,AAA99536,AAA03486,AAA17991,AAD09441,AAC51629,AAB18636,AAA86243,XP_001723466,XP_001723469,XP_001723471,NP_068818,BAB16298,BAC75547,BAD02942,BAD91204,AAB94612,AAF65493,AAF65496,AAC05578,AAD31292,AAD53054,AAD53910,AAG22593,AAF32284,AAF61218,AAG22826,AAN52494,AAK20875,AAK27712,AAL48256,CAB65073,CAA11127,CAC20415,CAB65103,CAB65735,CAC19015,CAC00534,CAC28260,CAC27124,CAB96577,CAH23708,CAI35044,CAJ30431,CAJ33581,AAK55114,AAK81687,AAO20088,AAB63411,AAB63412,A0AQY1,A0AQY4,A0AQY5,A0AQY6,A0AQY7,A0AQY8,A0AQZ4,O00664,O19190,O19503,O19504,O19585,O19586,O19621,O19661,O19662,O19663,O19665,O19666,O19668,O19678,O19679,O19681,O19719,O19721,O19725,O19727,O19729,O19733,O19734,O19735,O19736,O19737,O19738,O19740,O19742,O19743,O19759,O19762,O19763,O46793,O62870,O62880,O77961,O77963,O78042,O78044,O78054,O78117,O78210,O78216,O98212,P13760,P13762,AAA79144,AAB52230,AAC51630,CAA46536,CAA68150,CAA70497,AAB70553,AAC31951,AAM00252,AAM00253,BAF84188,BAF85709,AAX63452,AAX63455,AAX63458,AAH05312,ABC66198,AAA36288,AAA59813,AAA35995,AAA59825,AAA36296,AAA36300,AAA36299,AAA59714,AAA64237,AAB24005,AAC50165,AAB63410,AAA75373,ABC66200,Q7YQ30,Q860C0,Q860N4,Q860S8,Q861F3,Q861F4,Q861G2,Q861H7,Q861H8,Q8HWT8,Q8MGZ9,Q8MH61,Q8NEI3,Q8SNB5,Q8SNC3,Q8WLT9,Q8WLU0,Q8WLU3,Q95465,Q95HL4,Q95IE3,Q95IT6,Q95IE4,Q95IE6,Q9BCN9,Q9BCP5,Q9BCQ0,Q9BCS5,Q9BD10,Q9BD12,Q9BD26,Q9GIJ6,Q9GIL5,Q9GIY0,Q9GIY3,Q9GJ25,Q9GJ28,Q9GJ49,Q9GJ60,Q9GJG2,Q9MXZ6,Q9MXZ9,Q9MY14,Q9MY56,Q9MYA0,Q9MYA1,Q9MYB9,Q9MYD7,Q9MYE4,Q9NQ54,Q9TPB6,Q9TPE1,Q9TQ44,Q9TQ47,Q9TQ59,Q9TQD6,Q9TQD9,Q9TQE1,Q9UEX8,Q9UEY1,Q9UEY3,Q9UM28 Hs.534322,Hs.696211,Hs.705372 GDB:120645 DRB4|HLA-DR4B protein-coding 1350012 HLA-DRB5 major histocompatibility complex, class II, DR beta 5 HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. 1580863 3456344,17910142,17559577,17182961,17153701,17106278,16916662,16566202,16426242,16405603,16305688,15982265,15902698,15245378,15191533,15191532,14989721,14752708,14617041,14508706,12956878,12694574,12652907,12477932,12392858,12358860,12296785,12244309,12230470,12209103,12202216,12144632,12144077,12133402,12028548,11997714,11972886,11934390,11798795,11782380,11751963,11704801,11555411,11469465,11380955,11260517,11181188,11169266,11144300,11118314,11082517,11082515,11034591,10703621,10661406,10609818,10551425,9864034,9820607,9500545,9349614,9226128,9223324,9162096,9027973,8988548,8864175,8655358,8462990,8362413,8168862,8026992,7974469,7652736,7547576,3571980,3476943,3371836,3259543,3137159,3129499,3099214,3015788,2885840,2884201,2565895,2471740,2212675,2023919,1975801,1905983,1612646,8084338,9079699,8376762,7602119,3489470,15784911,16973583,10729169,8450224,8168144,7734415,7541827,2846691,2543930,12427289,7645219,1970352,7512597,1978941,1967269,1869305,16189514 3127 NM_002125,NG_002432,AB010269,AB010270,AB106129,AB112913,AB176444,AF011786,AF029281,AF029282,AF029283,AF029285,AF029286,AF029291,AF029301,AF034858,AF047350,AF186407,AF186408,AF201762,AF234175,AF234181,AF243537,AF247533,AF247534,AF267639,AF288212,AF306862,AF329281,AF335230,AF442519,AM084908,AM159646,AM231063,AY048687,AY141137,AY170862,AY172512,AY174184,AY179366,AY179367,AY179368,AY247411,AY257483,AY259126,AY259128,AY267906,AY277387,AY277391,AY277393,AY296120,AY296121,AY305859,AF450093,AJ243897,AJ243898,AJ245714,AJ245715,AJ245717,AJ249726,AJ251984,AJ252281,AJ271159,AJ289124,AJ297705,AJ306404,AJ401148,AJ404618,AJ491301,AJ506201,AJ506752,AJ507382,AJ507425,AJ507780,AJ512947,AJ534885,AJ539471,AJ783982,AJ854064,AJ854250,AJ867236,AJ871009,AJ878425,AL713966,AM000036,AF169239,AF052574,AF081676,AF089719,AF093411,AF112877,AF112878,AF122887,AF142442,AF142445,AF142451,AF142465,AF142466,AF144080,AF164346,EF078986,EF419344,EF495154,M20503,M27689,M30181,M30182,M32578,M57648,M59798,S79786,U17380,U17381,U31770,U95818,X99895,L21755,L26306,L41992,M15839,M35159,M57600,M63216,M74032,M81171,M81174,M81180,M98436,U08274,U25442,U25638,U26558,U34602,U37583,U41489,U41634,U59685,U66721,U68391,U72064,U72264,U79025,U79026,U79027,U95115,U96926,X64544,X64548,X64549,X86803,X95656,X97291,X99841,Y07590,Y09342,Y13727,Y17695,Y17819,Z83201,Z99006,AB062112,AF004817,AF490771,AJ297582,AJ580838,BC009234,M15992,M16086,M16954,M16955,M16956,M17377,M17379,M17382,M17383,M20429,AY307897,AY331806,AY379480,AY396024,AY429723,AY429728,AY457037,AY465115,AY502108,AY504812,AY504813,AY545466,AY641577,AY664400,AY664401,AY765349,AY877348,AY884215,AY899913,D13412,D14352,D29836,D49468,DQ135944,DQ179034,DQ179042,DQ514604,DQ525634,DQ535034,DQ643390,DQ837166 NP_002116,BAA36549,BAA36550,BAC66088,BAD02944,BAD15070,AAB65751,AAF65490,AAF65491,AAF65492,AAF65494,AAF65495,AAF65500,AAB88297,AAC24013,AAC05828,AAD51315,AAF06175,AAF06176,AAF35306,AAG50193,AAF64297,AAG00414,AAF99607,AAF99608,AAF78946,AAG01005,AAG42258,AAK21117,AAK20872,CAJ29895,CAJ43899,CAJ76979,AAL12226,AAN28924,AAO16556,AAN86038,AAO17056,AAO23237,AAO23238,AAO23239,AAO91660,AAP13509,AAP21612,AAP21614,AAP32697,AAP34691,AAP34695,AAP34697,AAP55804,AAP55805,AAP70485,AAN75784,AAL47161,CAB51474,CAB51475,CAB53343,CAB53344,CAB53346,CAB56285,CAC19085,CAB65734,CAB71144,CAC19016,CAC10354,CAC29238,CAB94833,CAC06089,CAD36477,CAD44639,CAD44945,CAD45639,CAD45638,CAD47817,CAD55599,CAD59236,CAD62435,CAH04455,CAH69440,CAI05916,CAI29455,CAI38569,CAI47597,CAI18079,CAJ01187,AAC05839,AAC32201,AAC61746,AAD10735,AAD29582,AAD29583,AAD31766,AAD31286,AAD31289,AAD31295,AAD31309,AAD31310,AAD53053,AAD47814,ABK56696,ABN58745,ABP38039,AAA59822,AAA59826,AAA59829,AAA59840,AAA59715,AAA59795,AAA63218,AAA64236,AAD14315,AAC50166,AAC50167,AAB63983,AAD00818,CAA68170,A0AQY3,O00157,O00283,O02867,O02876,O02951,O02969,O19518,O19667,O19804,O46698,O46700,O62887,O77965,O77978,O78108,O78161,O78167,O78212,O98047,P20039,P79486,P79545,P79546,P79547,P79613,Q05525,Q06654,Q06663,Q06664,Q07493,Q0PH71,Q15442,Q155F7,Q19K81,Q29646,Q29647,Q29672,Q29673,Q29686,Q29687,Q29691,Q29703,Q29715,Q29734,Q29737,Q29754,Q29788,Q29789,Q29806,Q29886,Q29894,Q29903,Q29906,Q29955,Q29971,Q29972,Q29973,Q2YHL2,Q30009,Q30109,Q30111,Q30138,Q768U3,Q7JFQ0,Q7JGS8,Q7YP63,Q7YPZ8,Q7YPZ9,Q7YQ31,Q7YQ32,Q7YQA2,Q7YQA4,Q7YQA5,Q7YQA8,Q860B8,Q860D8,Q860D9,Q860E3,Q860E5,Q860H8,Q860I1,Q860S1,Q860S2,Q860S7,Q860Z2,Q861A5,Q861B8,Q861G4,Q861G5,Q861H2,Q861H5,Q861H9,Q8HWG3,Q8HWG4,Q8HWG5,Q8HWH1,Q8HWL8,Q8HWN4,Q8HWQ6,Q8HWS7,Q8MGY3,Q8MH60,Q8WLU1,Q95348,Q95385,Q95386,Q95388,Q95389,Q95462,Q95HK1,Q95HK3,Q95HK4,Q95HK5,Q95HK8,Q95HK9,Q95HL0,Q95HL1,Q95HN0,Q99948,Q9BCQ2,Q9BCS6,Q9BCS8,Q9BCT6,Q9BD07,Q9BD47,Q9GIL4,Q9GIL7,Q9GIP3,Q9GIX0,Q9GIX7,Q9GJ56,Q9GJF7,Q9GJG0,Q9GJM1,Q9MXZ2,Q9MXZ7,Q9MXZ8,Q9MY00,Q9MY01,Q9MY02,Q9MY07,Q9MY08,Q9MY09,Q9MY10,Q9MY11,Q9MY12,Q9MY15,Q9MY22,Q9MY54,Q9MY91,Q9MYH1,Q9NPL1,Q9TNV2,Q9TNV3,Q9TP96,Q9TP97,Q9TPE2,Q9TPW9,Q9TPX4,Q9TQ41,Q9TQ42,Q9TQ56,Q9TQ62,Q9TQ64,Q9TQ77,Q9TQ78,Q9TQD8,Q9UBY1,Q9UEX9,Q9UIM7,Q9UM35,Q9UM36,Q9UM38,Q9XRX6,Q9Y454,Q9Y4H7,AAA58657,AAA67471,AAA65914,AAA58651,AAA59791,AAA36292,AAA52325,AAA63193,AAA91838,AAA91841,AAA91847,AAA59693,AAB87709,AAB50934,AAB02172,AAA67957,AAA75451,AAA79206,AAA86242,AAA84388,AAB52229,AAB52232,AAB08109,AAB17994,AAB17276,AAB52235,AAB52236,AAB52237,AAB58397,AAB71649,CAA45842,CAA45846,CAA45847,CAA60498,CAA64958,CAA65956,CAA68152,CAA68865,CAA70524,CAA74055,CAA76817,CAA76871,CAB05668,CAB11742,BAB84521,AAB61608,AAO85467,CAC08822,CAE45568,AAH09234,AAA59678,AAA59679,AAA36276,AAA36277,AAA36278,AAA59818,AAA59803,AAA59819,AAA36294,ABH05946,Q30140,Q30141,Q30151,Q30154,Q30158,Q30178,Q30199,Q31637,Q31641,Q31644,Q31645,Q3LTJ1,Q3LTJ2,Q4PRC5,Q5EEQ8,Q5EGD8,Q5FY46,Q5GMP5,Q5ND94,Q5QQ11,Q5TJ21,Q5U9W6,Q5UBA2,Q5W1E2,Q5Y7B6,Q6BDC5,Q6BDC8,Q6DV47,Q6QE68,Q6RCP9,Q6RCQ0,Q6REE2,Q6S5H9,Q6SJR2,Q6T714,Q6T717,Q6TKG7,Q6U387,Q70I25,Q75NJ5,Q768U2,AAP74221,AAP93590,AAQ85128,AAQ96776,AAR10879,AAR10882,AAR20446,AAR28667,AAR89455,AAR98643,AAR98644,AAS48869,AAT64904,AAT76040,AAT76041,AAV35213,AAW66688,AAW80834,AAW82335,BAA02678,BAA03281,BAA06216,BAA08440,AAZ53370,ABA06592,ABA06600,ABF60567,ABF74599,ABF93212,ABG25965 Hs.534322 GDB:125658 protein-coding 1354106 HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) 17910142,12133402,12089714,10436177,9601939,1937579,1529427 3128 NR_001298,NG_002432,AL713966,AF005487,L76565,L76566,U33547 AAC26400,O77966 Hs.705372 GDB:132663 pseudo 1602730 HLA-DRB7 major histocompatibility complex, class II, DR beta 7 (pseudogene) 3856276,1529427 3129 NG_002433,AL137064,K02772,K02773,K02774 GDB:132664 pseudo 1347117 HLA-DRB8 major histocompatibility complex, class II, DR beta 8 (pseudogene) 3036826,1529427 3130 NG_002433,M20556,Z84477 GDB:132665 pseudo 1345710 HLA-DRB9 major histocompatibility complex, class II, DR beta 9 (pseudogene) 1580863 12133402,7759314,1529427 3132 NG_002392,NG_002432,AL670296,AL845554,S78510 AAD14284,Q30217 GDB:132666 D6S206|D6S206E|HLA-DR1BL|HLA-DRB1L pseudo 1353823 HLA-E major histocompatibility complex, class I, E HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. 1580863 16341674,16224817,16034073,16003246,15829309,15751767,15681828,15631661,15620456,15496202,15489334,15226423,14595379,12929994,12874228,12618909,12590976,12477932,12461082,12461076,12411439,12232815,11920559,11774212,11751963,11714810,11432755,11270642,11137220,10898498,10809759,10557312,10203023,10064069,9894856,9886400,9840288,9751712,9660937,9605335,9545232,9486650,9427624,9373149,9218527,9154460,9103421,9103419,8493575,8125298,7751618,7621073,3131426,2825194,2714852,2438694,2249951,1977695,1624808,1530866,1401923,12427289,9263011,7539755,10799863,1316930,9373217,7913356,8084338,11932387,10546855,9120272,8877415,8671651,2789433,15316337,10707087,12526811,11289809,11578695,9586638,9052838,15078178,3260916,11513152,18332182,18083576,17961774,17768067,17767552,17445187,17257316,17164714,17157219,16920947,16702430,16573557,16570139,16362895,10684310,14965316,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,16189514 3133 AB014080,AB088094,AB103600,AB202091,AF523274,AF523275,AF523276,AF523277,AF523278,AF523279,AF523280,AF523281,AF523282,AF523283,AJ002533,AJ002534,AJ715787,AL662873,AY645727,AY645731,AY645733,AY645736,AY645737,NM_005516,AY645738,AY645740,AY645741,BA000025,CH471081,CR382280,CR936916,L79943,M16714,M21533,M32506,M32507,M32508,X64880,AB209870,AJ293263,AJ293264,AK098434,AK225048,AK292391,AY216681,AY221103,BC002578,BC004297,BC040479,BM791769,BX538084,CD366016,CR610198,CR619908,CR624610,CR626013,L78455,L78934,M20022,M31183,X56841,X64879 NP_005507,BAC54925,BAF31260,BAE78609,AAM74969,AAM74970,AAM74971,AAM74972,AAM74973,AAM74974,AAM74975,AAM74976,AAM74977,AAM74978,CAA05526,CAA05527,CAG29392,CAI18436,AAT73210,AAT73214,AAT73216,AAT73219,AAT73221,AAT73223,AAT73224,BAB63328,EAX03290,EAX03291,EAX03292,CAQ10464,CAQ10328,AAF25962,AAA36305,AAA59835,AAA63223,AAA63224,AAA63225,CAA46099,BAD93107,AAT73220,CAC07213,BAF85080,AAO37688,AAO34408,AAH02578,AAH04297,AAH40479,CAD98008,CAC07212,AAA52655,AAA57146,CAA40172,CAA46098,O19682,O19683,O19744,P13747,Q29896,Q29939,Q2L6I5,Q30168,Q30171,Q59EE1,Q6DU44,Q6DU50,Q6KBZ5,Q7Z367,Q9MW44,Q9TNU7,Q9TNU8,ABM82817,ABM86003 Hs.650174 GDB:120050 DKFZp686P19218|EA1.2|EA2.1|HLA-6.2|MHC|QA1 protein-coding 1345133 HLA-F major histocompatibility complex, class I, F This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. 1580863 1688605,17971048,17157219,16709803,16702430,16570139,16341674,16185322,14705989,14702039,14607927,14595379,14574404,12874228,12477932,11751963,11169396,10727083,10605026,9887353,8084338,9373217,7913356,12427289,9263011,7539755,11932387,10546855,9120272,8877415,8671651,2789433,10707087,12526811,11289809,11578695,9586638,9052838,15078178,10684310,14965316,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,16189514,9840288,9751712,9545232,9373149,9247579,9089112,8518796,8493575,8125298,7621073,1707659,10799863,1316930 3134 AY645754,AY645755,AY645756,AY645757,AY645758,AY645759,BA000025,BX005428,BX927250,CH471081,CR753818,D78595,X17093,AK096962,AK125274,AK225185,AY216682,AY221102,AY253269,AY253270,AY253271,BC009260,BC062991,BM798587,CA436948,CB528356,CD365590,CD369507,CT002787,DQ367723,NM_001098479,NM_018950,NM_001098478,AB011820,AB088082,AB103588,AB201549,AF055066,AF523284,AF523285,AF523286,AF523287,AF523288,AF523289,AF523290,AF523291,AF523292,AF523293,AF523294,AF523295,AF523296,AF523297,AL645939,AL669813,AL844851,AY328516,AY645742,AY645743,AY645744,AY645745,AY645746,AY645747,AY645748,AY645749,AY645750,AY645751,AY645752,AY645753 AAT73236,AAT73237,AAT73238,AAT73239,AAT73240,AAT73241,AAT73242,BAB63337,CAQ10721,CAQ10722,EAX03223,EAX03224,EAX03225,EAX03226,EAX03227,CAQ08349,CAQ08350,CAA34947,BAC86108,AAO37689,AAO34407,AAO86773,AAO86774,AAO86775,AAH09260,AAH62991,ABD38924,O78094,P30511,Q5JQI8,Q5JQJ1,Q5RIY7,Q5SPT5,Q5SPT7,Q6DU20,Q6DU28,Q6ZUW0,Q7YP62,Q860R0,Q861E9,Q861F0,Q8MGQ1,Q8WLP5,Q95HC0,NP_061823,NP_001091949,NP_001091948,BAA32747,BAC54915,BAF31252,BAE78596,AAC24827,AAM74979,AAM74980,AAM74981,AAM74982,AAM74983,AAM74984,AAM74985,AAM74986,AAM74987,AAM74988,AAM74989,AAM74990,AAM74991,AAM74992,CAI18086,CAI18087,CAI18088,CAI17626,CAI17627,CAI17628,CAI18575,CAI18576,CAI18577,AAP94210,AAT73225,AAT73226,AAT73227,AAT73228,AAT73229,AAT73230,AAT73231,AAT73232,AAT73233,AAT73234,AAT73235 Hs.519972 GDB:125714 CDA12|HLA-5.4|HLA-CDA12|HLAF protein-coding 1347423 HLA-G major histocompatibility complex, class I, G HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. 1580863 14500461,18480096,18423887,18380776,18365402,18353802,18331529,18295671,18295670,18292821,18266268,18257896,18257895,18059484,18051955,18024326,17982631,17981049,17971055,17971051,17971048,17961331,17951263,17932417,17897304,17881247,17873550,17854427,17847008,17846022,17845209,17825579,17768067,17767556,17716911,17707652,17702965,17689098,17683947,17681474,17678721,17675239,17673327,9539768,17667815,17616704,17559583,17509578,17493150,17490670,17462509,17446213,17445192,17400057,17399800,17371944,17350091,17303922,17257316,17207707,17176444,17169192,17157219,17121749,17118165,17076671,17072500,17067446,17059603,17026466,16933468,16916651,16906016,16867913,16734140,16702430,16698426,16684846,16644675,16616377,9531263,9405670,9373856,9228302,9221758,9218527,9144223,9129971,9103419,9089111,9023816,8662085,8493575,16549178,16501035,16493088,16490253,16459714,16455647,16441481,16426245,16424159,16366734,16362895,16243800,16236759,16210588,15950065,15900488,15837058,15780179,15713211,15670976,15652415,15578261,15556689,15548266,15546345,15514928,15466928,15380940,15373761,15331623,15284117,15219378,15191524,15133645,15090794,15001239,14974449,14711057,14702039,14700594,14697234,14672336,14662880,14639610,14638437,14634138,14628085,14602240,14602238,14602237,14602235,14602233,14602232,14602229,14602228,14602227,14595379,14592815,12959223,12900514,12878353,12874228,12874224,16570139,12874014,12853576,12721954,12616484,12582157,12552087,12477932,12477705,12454284,12443029,12440768,12392506,12390865,12390864,12232815,12207326,12183445,12115588,12039526,11975984,11861287,11834945,11807769,11766889,11751963,11719594,11261931,11169254,11137220,11137212,11034559,10843658,10816129,10809759,10727083,10626737,10479058,10479054,10371972,10360962,10330285,10190906,10190900,10082427,10082426,9933109,9840288,9777333,9751712,9684993,9665340,9637505,12842408,9545232,9263011,7539755,11932387,10546855,9120272,8877415,8671651,2789433,10799863,1316930,10707087,12526811,11289809,11578695,9586638,9052838,15078178,10684310,14965316,12836198,12414957,11463741,10982373,10366557,9582271,16272310,16091223,15638726,12734410,8612235,16189514,12427289,8376185,8183892,8102125,8020553,7836069,7751618,7621073,7589701,7584149,3480534,2336406,2326636,2295808,2249951,2016528,1908512,1890021,1744000,1624808,1570318,8084338,9373217,7913356 3135 NG_002398,AB088083,AB201550,AF020714,AF055066,AF132004,AF132006,AF132008,AF132010,AF132012,AF312697,AF523298,AF523300,AF523301,AF523302,AF523303,AF523304,AF523305,AF523306,AF523307,AF523308,AF523309,AF523310,AF523311,AL022723,AL645929,AL671561,AY645760,AY645761,NM_002127,AY645762,AY645763,AY645764,AY645765,AY645766,AY645767,AY645768,AY645769,AY645770,AY645771,AY645772,AY645773,AY645774,AY645775,AY645776,AY661646,AY661647,AY661648,AY661649,AY661650,AY661651,AY661652,AY667429,AY667430,AY667431,AY667432,AY667433,AY672592,CR759769,CR788234,CT009517,D67005,D67008,D67011,D78000,J03027,L07784,L20777,L78072,L78073,U65234,U65236,U65238,U65242,AY672593,AY672594,AY672595,AY672596,AY672597,AY672598,AY675175,AY675176,AY675177,AY675178,AY675179,AY675180,AY675181,AY675182,BA000025,BX001005,BX247949,BX927141,CH471081,U58027,U58028,U58029,U58094,U88244,X17273,U65246,U76217,U97035,U97036,U97037,U97038,U97039,X60983,AF071017,AF071018,AF071019,AF071020,AF071021,AF071022,AF196177,AF196178,AF226990,AF436089,AK093478,AL551999,AY359818,BC020891,BC021708,CR606159,CR608458,CR613246,CR623340,DC397107,M32800,M90683,M90684,M90685,M90686,U58024,U58025,U58026 NP_002118,BAC54916,BAE78597,AAC51863,AAC24826,AAF24137,AAF24138,AAF24139,AAF24140,AAF24141,AAK38203,AAM74993,AAM74994,AAM74995,AAM74996,AAM74997,AAM74998,AAM74999,AAM75000,AAM75001,AAM75002,AAM75003,AAM75004,AAM75005,CAI18029,CAI18030,CAI18031,CAI17562,CAI17563,CAI17564,AAT73243,AAT73245,AAT73246,AAT73247,AAT73248,AAT73249,AAT73250,AAT73251,AAT73252,AAT73253,AAT73254,AAT73255,AAT73256,AAT73257,AAT73258,AAT73259,AAT76792,AAT76793,AAT76794,AAT76795,AAT76796,AAT76797,AAT76798,AAT74562,AAT74563,AAT74564,AAT73244,AAT74565,AAT74566,EAX03233,EAX03234,EAX03235,EAX03236,CAQ09666,CAQ09667,CAQ09668,CAQ07527,CAQ07528,CAQ07529,CAQ10051,CAQ10052,CAQ10053,CAQ10054,BAA11031,BAA11032,BAA11033,BAA11185,AAA98745,AAA17890,AAB59351,AAL40074,AAF25961,AAC51099,AAC52033,AAC51100,AAC51101,AAT76964,AAT76965,AAT76966,AAT76967,AAT76968,AAT76969,AAT76970,AAT81378,AAT81379,AAT81380,AAT81381,AAT81382,AAT81383,AAT81384,AAT81385,BAB63336,CAI18589,CAI18590,CAI18591,CAQ09696,CAQ09697,CAQ09698,EAX03231,EAX03232,AAC04372,AAC04373,AAC04374,AAC04375,AAD45397,CAA35174,O02923,O02924,O02925,O02926,O02927,O02928,O02929,O19588,O19658,O19659,O19684,O19745,O19766,O19767,AAC04371,AAC50997,AAC03714,AAC51855,AAC51856,AAC51857,AAC51858,AAC51859,CAA43298,AAC25569,AAC25570,AAC25571,AAC25572,AAC25573,AAC25574,AAF37570,AAL30408,AAQ83724,AAH20891,AAH21708,AAA59846,AAA52673,AAA59836,AAA58653,AAA58654,AAC04369,AAC04370,O19768,O19805,O19806,O19807,O19808,O19809,O78131,O78132,O78133,O78134,O78135,O78136,P17693,Q29897,Q30170,Q30182,Q31611,Q5RIS3,Q68YR8,Q68YR9,Q68YS0,Q68YS1,Q68YS2,Q68YS3,Q68YS4,Q6B844,Q6B845,Q6B846,Q6B847,Q6B848,Q6B849,Q6B850,Q6B851,Q6B9Y0,Q6B9Y1,Q6B9Y2,Q6B9Y3,Q6B9Y4,Q6B9Y5,Q6B9Y6,Q6DL85,Q6DL86,Q6DL87,Q6DL88,Q6DL89,Q6DU08,Q6DU14,Q6UV35,Q7JFN0,Q8MGQ7,Q8MH47,Q8MH48,Q8WLP2,Q8WLS1,Q8WW48,Q95347,Q95356,Q95370,Q95391,Q95HM6,Q9BCT7,Q9MW45,Q9MYA2,Q9TP10,Q9TP11,Q9TP12,Q9TP13,Q9TP14,Q9TP69,Q9UM45,ABM87808,ABW03643 Hs.181244,Hs.512152 GDB:125675 MHC-G hla-g histocompatibility antigen, class i, g protein-coding 1349235 HLA-H major histocompatibility complex, class I, H (pseudogene) 1580863 6461010,15359910,15350465,14702039,2329283,2294403,1517564 3136 NR_001434,NG_002398,AB023057,AL645929,AL671561,AL845454,M31944,M32104,M32105,M32106,M32107,AK090500 P01893 Hs.655226 GDB:127895 HLAHP pseudo 1342604 HLA-J major histocompatibility complex, class I, J (pseudogene) 1580863 1602142 3137 NG_002398,AB023056,AL669914,AL671277,M80468,M80469,M80470 AAA66955,Q30175 GDB:132662 CDA12|D6S203|HLA-59|HLA-CDA12 pseudo 1350973 HLA-K major histocompatibility complex, class I, K (pseudogene) 1517564 3138 NG_002398,AB023056,AL645935,AL671277,BA000025,M96335 GDB:137136 HLA-70|HLA70|HLAK pseudo 1354336 HLA-L major histocompatibility complex, class I, L (pseudogene) 1517564 3139 NG_002771,AL662782,AL662832,AL844220,M96338 GDB:137137 HLA-92|HLA92|HLAL pseudo 1347571 HLA-N major histocompatibility complex, class I, N (pseudogene) 10452889,1517563 267014 M96329 GDB:11510843 HLA-30 pseudo 1342820 HLA-P major histocompatibility complex, class I, P (pseudogene) 10557312,1517563 352963 NG_002731,AL671561,AL844851,M96333 C6orf101|HLA-90|dJ377H14.3 pseudo 1349267 HLA-S major histocompatibility complex, class I, S (pseudogene) 10452889,1517563 267015 M96339 GDB:11510845 HLA-17 pseudo 1347312 HLA-T major histocompatibility complex, class I, T (pseudogene) 16829309,16331567,16292086,10557312,1517563 352964 NG_002398,AB023057,AL645929,AL645935,M96340 HLA-16 pseudo 1351895 HLA-U major histocompatibility complex, class I, U (pseudogene) 10557312,1517563 352965 NG_002398,AB023056,AL671277,M96330 HLA-21 pseudo 1349746 HLA-V major histocompatibility complex, class I, V (pseudogene) 10557312,1517563 352962 NG_002729,AL844851,AL671561,M96332 HLA-75|dJ377H14.4 pseudo 1343069 HLA-W major histocompatibility complex, class I, W (pseudogene) 10557312,1517563 352966 NG_002398,AB023056,AL671277,M96334 HLA-80 pseudo 1344404 HLA-X major histocompatibility complex, class I, X (pseudogene) 9799336,8462994 267016 D88576 GDB:11510847 pseudo 2292052 HLA-Y major histocompatibility complex, class I, Y (pseudogene) 15219387,10551419 100127173 AY344232,AY436316,Y18651 HLA-DEL|HLA-GOR pseudo 1349791 HLA-Z major histocompatibility complex, class I, Z (pseudogene) 8568858 267017 X87344 GDB:11510849 HLA-Z1 pseudo 1320489 HLCS holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) Holocarboxylase synthetase (EC 6.3.4.10) covalently links biotin to propionyl-CoA carboxylase (PCCA; MIM 232000), pyruvate carboxylase (PC; MIM 608786), alpha-methylcrotonyl-CoA carboxylase (MCCC1; MIM 609010), and acetyl-CoA carboxylase (ACACA; MIM 200350).[supplied by OMIM] 1580863 7842009,16780588,17417720,15489334,12477932,12124727,11735028,10830953,10190325,9630604,9503011,9396568,9037601,8817339,8541348,8053691,7753853,6133032 3141 NM_000411,AB063285,AP000697,AP000698,AP000699,AP000700,AP000701,AP000702,AP000703,AP000704,AP001726,AP001727,CH471079,AJ001864,BC060787,BI094308,BQ775124,CB049233,D23672,D87328,H17102,X80160 NP_000402,BAB68550,BAA95510,BAA95511,EAX09731,EAX09732,CAA05056,AAH60787,BAA04902,BAA13332,P50747 Hs.371350 GDB:392648 HCS protein-coding 1347027 HLF hepatic leukemia factor This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 1386162,8639829,17183364,16344560,16206189,15489334,15070701,12700034,12477932,10216071,10202154,10073576,9742120,9704006,9110174,8889549,8619474,8608207,8164688,8065331,7556072,1516826,16189514 3131 NM_002126,AC007638,CH471109,AA021027,AF035305,AK074289,AK290043,BC036093,CR541672,DA104709,DA637609,M95585,X68985 NP_002117,EAW94544,BAF82732,AAH36093,CAG46473,AAA52675,CAA48777,Q16534,Q6FHS9 Hs.196952 GDB:131402 MGC33822 protein-coding 1319146 HLTF helicase-like transcription factor This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. 1580863 7876228,18316726,18034322,17094449,17081983,15635413,15489334,15383276,12901794,12766908,12477932,11904375,11058586,10391891,9126292,8672239,8342330,7558014,11810028 6596 NM_139048,AC021059,AJ418064,CH471052,AB209052,AI971472,AK291231,BC005260,BC014326,BC015498,BC030976,NM_003071,BC044659,CR606295,L34673,S64671 NP_003062,NP_620636,CAD10805,EAW78889,EAW78890,EAW78891,EAW78892,EAW78893,BAD92289,BAF83920,AAH05260,AAH15498,AAH30976,AAH44659,AAA67436,AAB27691,Q05BZ6,Q05DF7,Q14527,Q59GQ7,ABZ92233 Hs.3068 GDB:392575 HIP116|HIP116A|HLTF1|RNF80|SMARCA3|SNF2L3|ZBU1 swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3 protein-coding 1323685 HLX H2.0-like homeobox 1580863 9073066,8094082,17532041,17110450,16902145,16436665,16344560,14702039,12477932,9665637,8095486,7806220,7680402,1712647,1676597,1672660,1375114,1349016,1283323 3142 NM_021958,AF217621,AL445423,CH471100,S56767,S56768,S56769,U14325,U14326,U14327,U14328,U14329,AB208812,AK056326,AK127923,BC007294,BC033808,CR591992,DA951303,M60721 NP_068777,AAF65541,CAH72120,CAH72121,EAW93288,EAW93289,AAD13883,AAD13884,AAD13885,AAC51346,BAD92049,AAH07294,AAH33808,Q14774,Q15989,Q5VVT2,ABM84231,ABM87760 Hs.74870,Hs.645593 GDB:128988 HB24|HLX1 h2.0-like homeo box 1 (drosophila) protein-coding 1319013 HM13 histocompatibility (minor) 13 The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. 1580863 14667819,16834339,16738546,16730383,16303743,15489334,15385547,14988012,14741365,14704149,14702039,12972007,12477932,12419218,12145199,12139484,12077416,11780052,11714810 81502 NM_178580,NM_178581,NM_030789,NM_178582,AL110115,AL121751,CH471077,CQ783582,CS255962,AF172086,AF483215,AF515663,AJ345029,AJ420895,AK074686,AK075283,AY169310,AY169311,AY169312,BC008938,BC008959,BC062595,BI192962,CR591999,CR601811,CR603351,CR610478,CR621277,DQ168450 NP_848695,NP_848696,NP_110416,NP_848697,CAI20173,CAI20174,CAI20175,CAI19152,CAI19153,CAI19154,EAW76435,EAW76436,EAW76437,EAW76438,CAF86750,CAJ75919,AAQ13609,AAM22076,AAN77099,CAC87790,CAD13132,BAC11138,BAC11519,AAO12535,AAO12536,AAO12537,AAH08938,AAH08959,AAH62595,ABA56163,Q15K36,Q8TCT9,ABM87205 Hs.373741 GDB:11506129 H13|IMP1|IMPAS|MSTP086|PSENL3|PSL3|SPP|dJ324O17.1 protein-coding 1603011 HMBOX1 homeobox containing 1 16825764,15489334,14702039,12477932 79618 AC040975,AC091558,AC108449,CH471080,AK025269,AK290683,AL832296,AY522342,BC009259,BC069242,CR605519,DQ153248,DQ269478,NM_024567 EAW63496,EAW63497,EAW63498,EAW63499,EAW63500,EAW63501,EAW63502,BAB15099,BAF83372,AAS76643,AAH09259,AAH69242,AAZ81565,ABB82947,Q6NT76,ABZ92410,NP_078843 Hs.591836 FLJ21616|HNF1LA|PBHNF protein-coding 733095 HMBS hydroxymethylbilane synthase This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. 1358673,1580863,1578396 2025226,18070416,17459418,17298217,17298216,16935474,16817012,16390615,16211556,15669678,15643298,15489334,15003823,14995910,14970743,14669009,12773194,12555854,12477932,12406973,12372055,11940707,11857754,11831862,11399210,11202057,11157504,11071386,11030413,11013452,10782018,10657149,10602775,10502788,10494093,10453740,9860299,9654202,9463797,9225970,9199558,8825929,8401516,8270256,8270254,8268934,8262523,8262514,8103755,8081367,7962538,7916736,7866402,7821789,7757070,7592566,6930671,3816774,3422427,2915972,2875434,2789372,2609111,2243128,2227955,1981047,1961762,1914516,1714233,1496994,1427766,1301948 1358673 3145 NM_001024382,AB162702,AP003391,AP003392,CH471065,D10608,M18799,M18800,M95623,S60381,X68018,AK000628,NM_000190,AK290275,AW139390,BC000520,BC008149,BC019323,BF210364,BQ020524,BX647328,CB128006,CR590157,CR595054,CR596302,CR598526,CR603362,CR606553,CR606864,CR611265,CR611708,CR612613,AK131072,CR613896,CR614466,CR620096,CR621119,D28419,X04217,X04808 NP_000181,NP_001019553,BAD36778,EAW67447,EAW67448,EAW67449,EAW67450,BAA01463,AAA60028,AAA60029,AAA60030,AAC60602,CAA48156,BAF82964,AAH00520,AAH08149,AAH19323,BAA05785,CAA27801,CAA28499,P08397,Q0G847,Q68Y91,Q6LER4 Hs.82609 GDB:120528 PBG-D|PBGD|UPS protein-coding 1605323 HMCN1 hemicentin 1 This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. 17591627,17216616,17157600,17057786,16885922,16710414,15467524,15370542,14702039,14570714,12388743,11222143,9715689,9295268 83872 NM_031935,AL118512,AL121996,AL133515,AL133553,AL135796,AL135797,AL391824,BX928748,CH471067,CS161060,AF156100,AJ306906,AK027344,AK056336,AK056557,AK096452,AL833232 NP_114141,CAI17865,EAW91198,EAW91199,EAW91200,CAJ30880,AAK68690,CAC37630,BAB55049,BAB71154,BAB71216,CAH10605,Q5TCP6,Q69YJ3,Q96K89,Q96RW7 Hs.58877 ARMD1|FBLN6|FIBL-6|FIBL6 protein-coding 1626387 HMCN2 hemicentin 2 14702039,12388743 256158 XM_001726942,XM_001715154,AL354898,AL360004,AK074396,AK093583,AK128680,AL834139 XP_001726994,XP_001715206,CAI16954,BAB85069,BAC04201,BAC87567,CAD38854,Q6ZQW6,Q8N225,Q8NDA2,Q8TCI8 Hs.32194,Hs.701533 DKFZp434P0216|FLJ23816|FLJ46844 protein-coding 1353988 HMG14P high-mobility group (nonhistone chromosomal) protein 14 pseudogene 10830953 54048 NG_000921,AP000255 GDB:10796348 pseudo 1346737 HMG17L1 high-mobility group (nonhistone chromosomal) protein 17-like 1 10591208 23605 NG_002646 GDB:9993289 dJ388M5|dJ388M5.2 pseudo 1342849 HMG17L2 high-mobility group (nonhistone chromosomal) protein 17-like 2 10591208 23606 NG_000892,Z83840 GDB:9993293 bK216E10 pseudo 1347323 HMG17P1 high-mobility group (nonhistone chromosomal) protein 17 pseudogene 1 3441004 3152 NG_001141,AC074183,CH236949,X06353 GDB:118810 28H pseudo 1349990 HMG17P2 high-mobility group (nonhistone chromosomal) protein 17 pseudogene 2 3441004 3153 NG_001142,X06444 GDB:118811 60H pseudo 1344998 HMG1L high-mobility group (nonhistone chromosomal) protein 1-like 3147 GDB:134715 1345595 HMG1L1 high-mobility group (nonhistone chromosomal) protein 1-like 1 This gene may represent an evolving retropseudogene of the high-mobility group box 1 gene, which has multiple pseudogenes. This gene has an intact open reading frame as well as strong transcriptional support. The length of encoded protein is conserved, compared to the high-mobility group box 1 protein. The exact function of this gene is unknown. 9925949 10357 NM_001008735,AF076674,AL160176 NP_001008735,Q9NQJ4 Hs.568249 GDB:9956452 HMG1L7|dJ579F20.1 protein-coding 1344648 HMG1L10 high-mobility group (nonhistone chromosomal) protein 1-like 10 1580863 10591208 27126 Z95115 CAB62951,Q9UGV6 GDB:10795903 bK445C9.3 pseudo 1349227 HMG1L3 high-mobility group (nonhistone chromosomal) protein 1-like 3 10766566,9925949 10356 NG_000883,AC010149,AF076675 GDB:9956449 pseudo 1346593 HMG1L4P high-mobility group (nonhistone chromosomal) protein 1-like 4 pseudogene 9925949 10355 NG_004767,AC007277,AF076676 GDB:9956446 HMG1L4 pseudo 1345412 HMG1L5 high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene 10591208,9925949,8439568 10354 NG_000897,AC121253,AF076677,L08048 AAA64970 GDB:9956443 HMG-1 pseudo 1353312 HMG1L6 high-mobility group (nonhistone chromosomal) protein 1-like 6 9925949 645292 AC068181,AF076678,CR616734,CR621439 Hs.707995 GDB:9956439 pseudo 1605444 HMG1L8 high-mobility group (nonhistone chromosomal) protein 1-like 8 692147 NG_005579,AC013565,AF165167 pseudo 1605140 HMG1L9 high-mobility group (nonhistone chromosomal) protein 1-like 9 654503 NG_005481,AC097483,AF165168 pseudo 1351924 HMG1P high-mobility group (nonhistone chromosomal) protein 1 pseudogene 3085 GDB:138313 1350467 HMG20A high-mobility group 20A 1580863 16189514,10773667,15489334,15231748,14702039,12477932,9373149,8125298 10363 NM_018200,AC090984,CH471136,AB073664,AF146222,AK001601,AK025664,AK096546,AK223100,AL355733,AL355737,AL355739,AL832087,BC021959,BT006716,CR610830 NP_060670,EAW99201,EAW99202,EAW99203,AAF66706,BAA91782,BAD96820,CAB90816,AAH21959,AAP35362,Q9NP66 Hs.69594 GDB:9956466 FLJ10739|HMGX1 protein-coding 1347672 HMG20B high-mobility group 20B 17961134,15489334,15057824,14702039,12809554,12493763,12477932,12083780,12083779,12032298,11997092,11207365,10773667,10486208,15325272,16189514 10362 NM_006339,AC005786,AC116968,CH471139,AF072165,AF072836,AF146223,AF288679,AF318366,AF331191,AK090733,AK129638,AK289500,AL355691,AL355702,AL355703,AL355709,BC002552,BC003505,BC004408,BC021585,BC134413,BI561304,CR456754,CR623751 NP_006330,AAC62837,EAW69306,EAW69307,EAW69308,AAF76253,AAC26860,AAF66707,AAG01174,AAL55873,AAG60060,BAC03510,BAF82189,CAB90809,AAH02552,AAH03505,AAH04408,AAH21585,AAI34414,CAG33035,Q71RA9,Q8WYT5,Q9P0W2,ABZ92463 Hs.406534 GDB:9956464 BRAF25|BRAF35|FLJ26127|HMGX2|PP7706|SMARCE1r|SOXL|pp8857 protein-coding 1314021 HMG2L1 high-mobility group protein 2-like 1 1580863 10329004,17671966,16455055,15461802,12529303,12477932,10591208 10042 NM_005487,NM_001003681,NM_014250,AL008635,CH471095,AI471703,AJ010069,AJ010070,AL079310,BC004194,BC011723,BC017326,BC025303,BC033783,BC040447,BC052624,BC062413,BC080611,BC104754,BC104756,BC111373,CB991207,CR456504,CR608426 NP_005478,NP_001003681,NP_055065,CAI21632,EAW60048,EAW60049,EAW60050,EAW60051,CAA08991,CAA08992,CAB45240,AAH04194,AAH17326,AAH25303,AAH52624,AAH62413,AAI04755,AAI04757,AAI11374,CAG30390,Q2M3X1,Q2T9L2,Q6P681,Q6PJ09,Q6PJC1,Q7Z641,Q9UGU5,CAK54533,CAK54832 Hs.588815 GDB:9954922 HMGBCG|THC211630 protein-coding 1354014 HMG4L high-mobility group (nonhistone chromosomal) protein 4-like 12727900,12477932 128872 NR_002165,AL049709,BC103849,BC103850,BC103851 AAI03850,AAI03851,AAI03852,Q3SYE8 Hs.558624 GDB:11506131 MGC118987|MGC118988|MGC118989|dJ18C9.3 pseudo 1348853 HMG4L2 high-mobility group (nonhistone chromosomal) protein 4-like 2 128879 NG_000979,AL035420 GDB:11506133 dJ550H1.1 pseudo 1345409 HMGA1 high mobility group AT-hook 1 This gene encodes a non-histone protein involved in many cellular processes, including regulation of inducible gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of A+T-rich regions in double-stranded DNA. It has little secondary structure in solution but assumes distinct conformations when bound to substrates such as DNA or other proteins. The encoded protein is frequently acetylated and is found in the nucleus. At least seven transcript variants encoding two different isoforms have been found for this gene. 1580863 10428834,12091904,16291214,10871404,15609325,12228227,15479846,18316571,18279675,18202751,17935122,17903177,17877762,17723105,17654722,17616660,17550233,17434141,17290307,17178855,17081983,17045586,16256199,16189514,16166307,16033759,15901130,15893306,15835918,15631895,15591590,15569996,15489334,15378028,15350136,15302935,15247513,15213251,14960313,14729942,14702039,14611647,13680222,12761578,12700639,12665574,12653562,12477932,12097287,12002338,11978964,11593421,11498590,11406267,11279116,11076660,11069991,11034995,10891489,10713105,10428837,10428836,10428835,10357819,10074149,9751634,9545312,9388234,9253416,9188609,9038339,8414980,7862168,7791781,3619901,2920035,2806554,2701943,2505228,1939057,1692833,16403635,16075307,15875659,15924147,11834421 3159 NM_145899,NM_002131,NM_145903,NM_145901,NM_145902,NM_145904,NM_145905,AL354740,CH471081,L17131,AF176039,AK096863,AK130027,BC004924,BC008832,BC008963,BC015662,BC015789,BC063434,BC067083,BC071863,BC071864,BT006774,CR591405,CR595910,CR596333,CR597874,CR598411,CR600575,CR601453,CR605660,CR612153,CR613337,CR613994,CR614979,CR620670,CR626711,M23614,M23615,M23616,M23617,M23618,M23619,X14957,X14958 NP_665906,NP_002122,NP_665910,NP_665908,NP_665909,NP_665911,NP_665912,CAI14991,CAI14992,EAX03762,EAX03763,EAX03764,EAX03765,EAX03766,EAX03767,EAX03768,EAX03769,EAX03770,EAX03771,EAX03772,EAX03773,EAX03774,AAB00145,AAD53889,BAC85280,AAH04924,AAH08832,AAH15789,AAH67083,AAH71863,AAH71864,AAP35420,AAA88072,AAA88073,AAA88074,AAA88075,AAA88076,AAA35998,CAA33080,CAA33081,P17096,Q5T6U8,Q5T6U9,Q6IPL9,Q6ZP45,ABM84023,ABW03568,AAH63434 Hs.518805,Hs.703764 GDB:134205 HMG-R|HMGA1A|HMGIY|MGC12816|MGC4242|MGC4854 protein-coding 1343766 HMGA1L1 high mobility group AT-hook 1-like 1 11672774,11063803 203477 NG_002324,AC107293,AF116914 HMGIYL1 pseudo 1603546 HMGA1L2 high mobility group AT-hook 1-like 2 11672774 171559 NG_001569,AC105757,AF236857 HMGIYL2 pseudo 1351848 HMGA1L3 high mobility group AT-hook 1-like 3 11672774 144712 NG_002323,AC005907,AC144548,BK000551 HMGIYL3 pseudo 1345354 HMGA1L5 high mobility group AT-hook 1-like 5 387063 1344216 HMGA1L6 high mobility group AT-hook 1-like 6 387064 1352361 HMGA1L7 high mobility group AT-hook 1-like 7 387065 1348013 HMGA2 high mobility group AT-hook 2 This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1601568,1601569,1580863,1601567,1601592 7606786,16293633,18413822,18391952,18214854,18202751,18193045,17957144,17943974,17935122,17917968,17917958,17854665,17767157,17654722,17624332,17477356,17437991,17426251,17332316,17322030,17222355,17078040,17045619,17005673,16831886,16375854,16341674,16322327,16276091,16271958,16222997,16077985,16061642,15882911,15618963,15618962,15146197,15026339,14647145,14645522,14614053,14603445,13679031,12874787,12799440,12781451,12778070,12693954,12649198,12569368,12505264,12477932,12419585,11921278,11894114,11839563,11406267,11390395,11066083,11034995,10636877,10586108,10398424,9892177,9772904,9003504,8824803,8198613,7670494,7529547,7501444,1762909 1601568,1601569,1601567,1601592 8091 NM_003483,NM_003484,A52568,A80000,AC090673,AC107308,AF326972,CH471054,L41044,L46353,U28750,U28754,AF533651,AF533652,AF533653,AF533654,AI290477,AY138860,AY601861,AY601862,AY601863,AY601864,AY601865,AY601866,AY601867,BC018139,BM782659,CA422738,CN334368,U28749,U29112,U29113,X92518,Z31595,AB209853 NP_003474,NP_003475,CAA03408,CAB59170,AAN64002,EAW97152,AAA96484,AAA68614,AAO48741,AAO48742,AAN60545,AAU43851,AAU43852,AAU43853,AAU43854,AAU43855,AAU43856,AAU43857,AAA68613,CAA63295,CAA83472,P52926,Q1M182,Q1M183,Q1M185,Q1M186,Q1M187,Q1M188,Q59EF8,Q86U91,Q8IZX8,BAD93090,AAI60115 Hs.505924 GDB:362658 BABL|HMGI-C|HMGIC|LIPO|STQTL9 protein-coding 1605729 HMGB1 high-mobility group box 1 14517071,12799451,12785009,12759333,12727838,12665595,12620891,12604365,12565837,12534345,12488489,12477932,12456506,12384917,12231511,12149489,12110890,12062430,11748221,11470162,11299752,11294645,14532127,11246022,11748232,16130169,9600082,8006019,12925773,18288272,18250463,18076993,17991152,17975708,17958791,17895302,17678959,17610420,17597834,17504981,17502242,17475879,17346334,17218606,17203009,17142771,17060403,17035340,16997939,16997859,16968820,16966386,16951227,16916647,16855214,16807371,16802368,16751357,16697213,16570276,16282196,16267105,16169070,16040616,15994314,15944249,15924431,15915542,15802534,15793304,15766246,15743787,15733057,15666359,15496585,15489334,15488733,15210788,15201494,15162419,15146429,15130941,15014079,14999020,14739282,14702039,16962095,14534709,11279268,11106654,11099378,10962007,10652254,10617144,10490593,9880542,9812979,9722660,9671457,9628821,9507007,9472015,9150946,9036861,8890171,8661151,8366113,3697355,2922262,1909331,16189514 3146 NM_002128,AF255609,AF281043,AL353648,CH471075,EF157968,EU012027,U51677,AA430980,AB208998,AK057120,AK122825,AK291494,AL110194,AY377859,BC003378,BC030981,BC066889,BC067732,BC141844,BT006940,BT020159,BX647267,CR456863,CR591935,CR592109,CR592914,CR600442,CR601960,CR607900,CR608517,CR610682,CR613151,CR749614,D63874,X12597,CR625251,CR625918 NP_002119,AAF71287,AAK64599,CAI15600,CAI15601,CAI15603,CAI15606,EAX08457,EAX08458,EAX08459,EAX08460,EAX08461,EAX08462,ABM47301,ABS29271,AAB08987,BAD92235,BAF84183,AAQ91389,AAH03378,AAH30981,AAH66889,AAH67732,AAI41845,AAP35586,AAV38961,CAG33144,CAH18408,BAA09924,CAA31110,P09429,Q14321,Q59GW1,Q5T7C0,Q5T7C1,Q5T7C2,Q5T7C3,Q5T7C4,Q5T7C5,Q5T7C6,Q9NYD7,AAI40014,AAI40019 Hs.434102,Hs.593339,Hs.712556 GDB:133789 DKFZp686A04236|HMG1|HMG3|SBP-1 protein-coding 1352474 HMGB1P high-mobility group box 1 pseudogene 319130 NG_002508,AL132989 pseudo 1605728 HMGB2 high-mobility group box 2 This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. 8339930,11909973,1551873,9600082,15504738,7797075,12925773,17964600,17406091,16344560,15833996,15489334,14739282,14729942,12555809,12524539,12477932,12062430,11748232,11099378,10490593,9722660,9671457,8824816,7720710,3697355,1754403,1475204,16189514 3148 NM_002129,AC097534,CH471056,M83665,AU129699,BC000903,BC001063,BC100019,BT019782,BT019783,CR590265,CR592990,CR599927,CR600021,CR603881,CR605441,CR606584,CR622092,CR622334,CR623074,CR624665,CR624893,X62534,Z17240 NP_002120,EAX04758,EAX04759,AAA58659,AAH01063,AAI00020,AAV38585,AAV38586,CAA44395,CAA78938,P26583,Q5U071,Q96J53,ABM83214,ABM86413 Hs.434953 GDB:133790 HMG2 protein-coding 1350742 HMGB3 high-mobility group box 3 HMGB3 belongs to the high mobility group (HMG) protein superfamily. Like HMG1 (MIM 163905) and HMG2 (MIM 163906), HMGB3 contains DNA-binding HMG box domains and is classified into the HMG box subfamily. Members of the HMG box subfamily are thought to play a fundamental role in DNA replication, nucleosome assembly and transcription (Wilke et al., 1997 [PubMed 9370291]; Nemeth et al., 2006 [PubMed 16945912]).[supplied by OMIM] 1580863 9598312,16945912,16381901,15772651,15489336,15489334,12477932,11076863,9370291,2350545,1572546 3149 NM_005342,AF003626,CH471169,BC007608,BC012370,BC037210,BC070482,BX537505,CR596113,DN996967,L05085,Y10043 NP_005333,EAW99397,EAW99398,AAH70482,CAD97768,AAC15850,CAA71143,O15347,Q0JS55,Q16466,Q7Z684,CAL38124,CAL38659,ABZ92037 Hs.693708 GDB:9756985 HMG2A|HMG4|MGC90319 protein-coding 1606732 HMGB4 high-mobility group box 4 14702039,12477932 127540 Q0QWA4,Q6NSH1,Q8WW32 NM_145205,NM_001008728,AL121980,CH471059,AK097707,AK130859,BC021180,BC070148,BI827031,BX099695,DQ207367 NP_660206,NP_001008728,EAX07453,AAH21180,AAH70148,ABB22048,Q0QWA4,Q6NSH1,Q8WW32 Hs.568628,Hs.667683 FLJ40388|MGC88128|dJ1007G16.5 protein-coding 733716 HMGCL 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) 1599500,1300048,1580863 8102917,17459752,17173698,16330550,15764642,15752612,15489334,15164951,15122894,14702039,12477932,12464283,11952809,11129331,9463337,8978493,8798725,8617516,8440722,8027038,7527399,2116546 1599500 3155 NM_000191,NG_007068,AL031295,AL590728,CH471134,U49719,AI202943,AK122801,BC010570,BC021145,BT009792,CR456884,CR592209,CR593217,CR599768,CR607081,CR608993,CR609177,CR609456,CR612765,CR613735,CR614394,CR623692,CR624928,CR625443,CR626171,L07033 NP_000182,CAI23161,EAW95094,EAW95095,EAW95096,EAW95097,AAB19099,AAH10570,AAP88794,CAG33165,AAA92733,P35914,Q5QPQ6,Q6IBC0,ABM83009,ABM86202 Hs.533444,Hs.603409 GDB:138445 HL 3-hydroxy-3-methylglutaryl coa lyase protein-coding 1352812 HMGCLL1 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1 1580863 16344560,14702039,12477932,9110174,8619474,8440722 54511 NM_001042406,NM_019036,AL590290,AL590406,CH471081,AF131827,AK055075,AK127587,AL137605,BC024194,DA508472,DB179645 NP_001035865,NP_061909,CAI39775,EAX04442,EAX04443,EAX04444,EAX04445,AAD20054,BAC87045,CAB70838,AAH24194,O95896,Q5JRJ4,Q8TB92,Q9NT06 Hs.147054 DKFZP434G1411|bA418P12.1 protein-coding 731579 HMGCR 3-hydroxy-3-methylglutaryl-Coenzyme A reductase HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. 1580863 9853754,2991281,18354102,18261733,18056971,18024962,17870053,17855807,17652086,17284348,16930778,16054061,15811249,15489334,15473258,15233402,15199031,15090540,14697242,14684825,14556080,12871602,12860252,12803139,12778445,12535518,12477932,12477733,12213890,11894121,6479432,3896758,3866240,3860301,3308873,2998972,2369897,1979742,1755834,16014965,16189514,11716764,11349148,10698924,10695663,10449533,10391209,8406993,8028508,6491541 3156 AC008897,AF273765,AY321356,CH471084,AK292892,AY429541,AY429542,AY429543,BC024180,BC033692,M11058,M62633,NM_000859 NP_000850,AAG21343,AAP72015,EAW95754,EAW95755,EAW95756,BAF85581,AAH33692,AAA52679,P04035,ABM81781,ABM84935 Hs.699171 GDB:119312 protein-coding 735555 HMGCS1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) 1300048,1580863 7913309,17081983,16344560,15489334,14702039,12477932,2877984,2870496,1971108,1358203 3157 BC000297,BC082234,BC083514,BT007302,CR591410,CR611799,DB078662,L25798,X66435,NM_002130,NM_001098272,AC114947,CH471119,AK095492,AL050004 AAH00297,AAH83514,AAP35966,AAA62411,CAA47061,Q01581,Q5XJ04,Q8N995,NP_002121,NP_001091742,EAW56054,EAW56055,EAW56056,BAC04559 Hs.397729 GDB:119313 HMGCS|MGC90332 3-hydroxy-3-methylglutaryl-coenzyme a synthase 1 protein-coding 737571 HMGCS2 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) 1580863 11479731,7851882,17387528,16940161,15489334,12647205,12477932,11228257,9305755,7893153 3158 NM_005518,AL589734,CH471122,U81859,BC044217,BF964973,CR456850,CR618114,U12788,U12789,X83618 NP_005509,CAI22408,EAW56709,EAW56710,AAB72036,AAH44217,CAG33131,AAA92673,AAA92674,CAA58593,P54868,Q5SZU2,Q6IBF4 Hs.59889 GDB:342071 protein-coding 1317138 HMGN1 high-mobility group nucleosome binding domain 1 Chromosomal protein HMG14 and its close analog HMG17 (MIM 163910) bind to the inner side of the nucleosomal DNA, potentially altering the interaction between the DNA and the histone octamer. The 2 proteins may be involved in the process that maintains transcribable genes in a unique chromatin conformation. Their ubiquitous distribution and relative abundance, as well as the high evolutionary conservation of the DNA-binding domain of the HMG14 family of proteins, suggest that they may be involved in an important cellular function.[supplied by OMIM] 1580863 8047885,16780588,17938209,16729963,16253989,16061652,15489334,15302935,15147216,14702039,12773393,12477932,12215538,11438671,10830953,10753971,10739259,9852141,8534374,8514795,7563062,4022776,3782107,2563381,2140193,16189514 3150 NM_004965,AF064861,AL163279,CH471079,M21339,AB209245,AK056033,AK130775,AL582106,BC000075,BC023984,BC070153,BC070154,BC071643,BC072672,BC106080,BC107741,BE779939,BT007337,CR591548,CR597521,CR601793,CR601988,CR614930,CR616640,CR618139,CR619497,CR619783,CR620500,CR625531,CR625629,J02621 NP_004956,CAB90453,EAX09650,EAX09651,EAX09652,EAX09653,EAX09654,EAX09655,EAX09656,AAA52677,BAD92482,BAB71078,AAH00075,AAH23984,AAH70153,AAH70154,AAH71643,AAH72672,AAI06081,AAI07742,AAP36001,AAA52676,P05114,Q3B790,Q59G64,Q6NSG7,Q96N32,ABM82667,ABM85845 Hs.356285,Hs.702472 GDB:118809 FLJ27265|FLJ31471|HMG14|MGC104230|MGC117425 protein-coding 1353111 HMGN1P1 high-mobility group nucleosome binding domain 1 pseudogene 1 319131 NG_002509,AL356801 pseudo 1350424 HMGN2 high-mobility group nucleosomal binding domain 2 1580863 16710414,15489334,12477932,12032302,11438671,11410162,11337467,11246012,10753971,10640150,10207070,9852141,7563062,4022776,3754870,2565024,2394451,2040281,2037294,16189514 3151 CR590487,CR590834,CR592727,CR593313,CR595467,CR595538,CR596866,CR598323,CR599316,CR602382,CR605166,CR606135,CR607698,CR608465,CR609228,CR611141,CR612973,CR614459,CR619884,CR621179,CR622123,CR624004,CR624609,M12623,NM_005517,AL513365,CH471059,X13546,AK026562,AU100588,BC000378,BC003050,BC003689,BC007124,BC014644,BC020307,BC032140,BC061898,BC064347,BC070297,BC071707,BC072010,BC072011,BC075837,BC081567,BC110390,BU074476,CR542122 CAG46919,AAA52678,P05204,ABZ92038,NP_005508,CAI21489,EAX07803,CAA31898,AAH00378,AAH03050,AAH14644,AAH32140,AAH70297,AAH71707,AAH72010,AAH72011,AAH75837,AAH81567,AAI10391 Hs.181163 GDB:120053 HMG17|MGC5629|MGC88718 protein-coding 1352506 HMGN2L high-mobility group nucleosomal binding domain 2-like 728234 NG_005991,AL513423 Em:AL513423.2 pseudo 1353913 HMGN2P high-mobility group nucleosomal binding domain 2 pseudogene 319132 NG_002510,AL049829 pseudo 1343072 HMGN2P2 high-mobility group nucleosomal binding domain 2 pseudogene 2 317726 NG_002460,AC022404 pseudo 1626548 HMGN2P3 high-mobility group nucleosomal binding domain 2 pseudogene 3 10763410,9988767 728632 NG_005591,AC093509 pseudo 1626586 HMGN2P4 high-mobility group nucleosomal binding domain 2 pseudogene 4 643744 NG_006596,AC113404 pseudo 1626584 HMGN2P5 high-mobility group nucleosomal binding domain 2 pseudogene 5 727795 NG_006579,AC022613 pseudo 1626583 HMGN2P6 high-mobility group nucleosomal binding domain 2 pseudogene 6 643872 NG_006597,AL163052 pseudo 1626555 HMGN2P7 high-mobility group nucleosomal binding domain 2 pseudogene 7 644498 NG_006600,AC027125 pseudo 1352330 HMGN3 high mobility group nucleosomal binding domain 3 Thyroid hormone receptors are hormone-dependent transcription factors that regulate expression of a variety of specific target genes. The protein encoded by this gene binds thyroid hormone receptor beta, but only in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Two transcript variants encoding different isoforms have been found for this gene. 1580863 7776974,17081983,15489334,14702039,14574404,12477932,12033773,11356838 9324 NM_138730,AL355796,CH471051,AF274949,AF401520,AK021563,AY043282,BC009529,BI551210,BK000003,BK000006,NM_004242,CR599808,CR604353,L40357,BX648085 NP_620058,CAH74094,CAH74095,EAW48711,EAW48712,EAW48713,EAW48714,EAW48715,AAK07526,AAK92012,AAK85736,AAH09529,DAA00392,NP_004233,DAA00395,AAA73877,Q15651,Q5HYD3,CAI46267 Hs.77558 GDB:9956000 DKFZp686E20226|PNAS-24|PNAS-25|TRIP7 protein-coding 1344098 HMGN4 high mobility group nucleosomal binding domain 4 The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Transcript variants utilizing alternative polyadenylation signals exist for this gene. 1580863 16344560,15489334,14574404,12477932,11410162,9149941 10473 NM_006353,AL121936,CH471087,AU143224,BC001282,BC035998,BT009824,CR601032,CR606138,CR613004,CR621282,CR625909,U90549 NP_006344,CAC16803,EAW55586,EAW55587,EAW55588,EAW55589,EAW55590,AAH01282,AAP88826,AAB53427,O00479 Hs.236774 GDB:9957101 HMG17L3|MGC5145|NHC protein-coding 1606818 HMHA1 histocompatibility (minor) HA-1 18093280,17580157,16984283,15593299,15498856,15350465,14702039,14502255,12477932,12091347,11965046,11920221,11095984,10958358,9820596,9039502,8843592 23526 NM_012292,AC004151,AC011558,AC093066,AF092537,AF207595,AF207596,AF207597,AF236756,AF308045,AF308046,AF308047,AF308048,AF308049,AF308050,AF308051,AF308052,AF308053,AF308054,AF308055,AF308056,AF308057,AF308058,AF308059,AF308060,AF308061,AF308062,AF308063,AF308064,AF308065,AF308066,CH471139,AK122776,AK128097,BC035564,BC048129,BC065223,CR603358,CR608309,D86976 NP_036424,AAC03237,AAC64140,AAG02014,AAG02015,AAG02016,AAF91292,AAN04658,EAW69551,EAW69552,EAW69553,EAW69554,EAW69555,AAH35564,AAH48129,AAH65223,BAA13212,O78181,Q8IYN3,Q92619 Hs.465521 HA-1|HLA-HA1|KIAA0223 protein-coding 1602470 HMHB1 histocompatibility (minor) HB-1 This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. 18093280,12477932,9892612 57824 NM_021182,AC025765,AF233094,CH471062,AF103884,BC096711,BC098145,BC098244,BC098251,BC104412,BC104413,BC113894,BC113971 NP_067005,AAF81110,EAW61867,AAC78642,AAI04413,AAI04414,O97980 Hs.158320 HB-1|HLA-HB1 protein-coding 1346445 HMI hypomelanosis of Ito 12239727,11074501 3160 GDB:265275 737426 HMMR hyaluronan-mediated motility receptor (RHAMM) The receptor for hyaluronan mediated motility has been reported to mediate migration, transformation, and metastatic spread of murine fibroblasts. In human, it is expressed as an intracellular protein in breast cancer cells. No correlation between the level of HMMR mRNA and protein expression with known metastatic/malignant potential of the tumour cell lines was observed. 1580863 18174258,17978170,17922014,17872502,17395888,17392272,17157168,16565220,16112646,15809329,15705883,12939665,12808028,12712331,12477932,12225794,11716065,11448954,11433424,11403955,10882722,10547355,10216086,9601098,8890751,8595891,7683315,7541721,1602151 3161 NM_012484,NM_012485,AC112205,CH471062,AF032862,AK290577,AY623426,BC006984,BC017793,BC030505,BC033568,BC057235,BC070281,BC108904,BC108905,CR592683,CR601287,U29343,BC107869 NP_036616,NP_036617,EAW61521,EAW61522,EAW61523,EAW61524,EAW61525,AAC32548,BAF83266,AAH06984,AAH17793,AAH30505,AAH57235,AAH70281,AAI08905,AAC52049,O75330,Q05D84,Q05DM0,Q2VPE6,Q32N02,Q6NSC0,Q6PG44,Q6PIR6 Hs.72550 GDB:683209 CD168|IHABP|MGC119494|MGC119495|RHAMM hyaluronan mediated motility receptor protein-coding 730901 HMOX1 heme oxygenase (decycling) 1 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. 1580454,1580455,1580470,1580472,1582708,1582709,1582711,1582713,1582715,1598406,1598408,1598409,1598410,1358658,1601607,1601608,1601621,1582701,1580452,1598392,1598393,1598394,1580453,1598395,1598396,1598397,1598398,1598399,1598400,1598401,1598402,1598403,1598404,1598405,1582702,1601606,1547877,1580863,1300048 17915953,17896171,17886034,17883332,17873285,17823375,17726138,17667816,17652371,17620093,17603281,17600318,17567933,17558910,17541213,17531161,17526500,17526019,17520317,17511591,17467999,17452746,17413033,17400606,17391133,17389623,17295091,17277740,17254481,17244614,17229906,17219054,17216339,17211576,17204476,17203192,17095719,17081983,17079780,17065227,17064313,17020887,17018862,17018578,17003650,16999951,16971418,16951197,16950787,16945925,16923960,16887359,16882737,16849502,16840713,16804400,16783602,16772700,16771696,16724942,16712795,16697692,16620829,17919491,16609364,16596642,16582079,16545694,16540907,16530877,16495813,16485041,16474202,16462769,16455537,16399210,16387424,16374439,16319139,16313248,16309588,16309586,16309585,16271489,16249618,16234431,16232329,16210136,16189191,9884342,12761501,3345742,18461097,18460015,18459998,18443197,18307065,18275848,18274635,18205746,18202225,18201862,18200441,18195184,18174022,18093274,18077487,18050210,18048809,18042465,18007994,17991645,17971338,17927807,17919492,15451051,15365571,15337692,15336443,15319861,15316927,15297453,15285018,15284058,15233805,15184199,15166181,15161530,15140586,15084931,15064108,15049686,15028349,15024026,15004156,14992466,14988408,14981149,14733911,14726403,14715242,14691581,14683741,14660632,14647439,16181102,16154535,16123320,16117883,16100019,16020495,15964514,15899048,15897578,15885363,15878918,15875813,15849554,15834587,15833736,15817713,15805230,15797755,15797262,15763346,15741166,15690204,15688187,15661856,15652505,15629867,15618017,15611319,15581622,15547665,15544924,15525643,15522396,15519649,15474356,15470195,15465821,15461802,14635185,14615405,14587309,14529548,14523007,14521259,13678532,12969148,12947311,12941774,12933701,12927819,12927812,12891549,12872043,12865654,12842469,12832044,12810075,12805077,12783778,12777398,12736395,12730098,12716475,12709592,12709590,12709569,12709568,12709566,12690112,12679469,12649161,12626517,12585963,12579334,12566526,12500973,12493432,12480749,12477932,12469218,12433915,12431619,12397597,12396617,12379283,12377749,12376366,12376363,12376298,12222997,12207883,12202863,12182912,12153964,12151344,12136229,12133007,12130498,12118938,12117910,12099373,12091240,12086318,11986386,11849436,11829463,11820797,11786534,11727267,11718398,11385506,10952020,10631150,10591208,10467099,10082382,9890653,8650873,8146161,8034330,7778849,2911585,2537723,16189514 1580454,1580455,1580470,1580472,1582708,1582709,1582711,1582713,1582715,1598406,1598408,1598409,1598410,1358658,1601607,1601608,1601621,1582701,1580452,1598392,1598393,1598394,1580453,1598395,1598396,1598397,1598398,1598399,1598400,1598401,1598402,1598403,1598404,1598405,1582702,1601606,1547877 3162 AY460337,CH471095,X14782,Z82244,AF051791,BC001491,BT019785,CR456505,CR541945,CR541968,CR590034,CR592402,CR594865,CR595835,CR596243,CR598003,CR600636,CR601640,CR603909,CR605543,CR609687,CR609692,CR611293,CR611539,CR612044,CR612068,CR615425,CR615434,CR615696,CR615878,CR615893,CR617367,CR617513,CR622130,CR623238,CR623301,CR623799,CR624289,CR625550,CR625992,NM_002133,CR626132,M23041,M23042,X06985 NP_002124,AAR23262,EAW60059,CAA32886,CAB05109,AAH01491,AAV38588,CAG30391,CAG46743,CAG46766,AAA50403,CAA30045,P09601,Q6FH11,Q96DI8,CAK54534,CAK54833,ABM83236,ABM86436 Hs.517581 GDB:135036 HO-1|bK286B10 protein-coding 68991 HMOX2 heme oxygenase (decycling) 2 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Alternative splice variants encoding the same protein have been identified at this locus. 1580863 1575508,17965015,17540772,17510199,17064313,16344560,16169070,16137652,16043027,15528406,15489334,15342556,14702039,14615405,14527438,14506930,12578814,12477932,12057765,11572959,11171041,11027601,9373149,9284910,8764571,8125298,8034330,7890772,12775419,16189514 3163 NM_002134,NM_001127204,NM_001127205,NM_001127206,AC007606,AY771350,CH471112,AF051306,AK093388,AK222629,BC002396,BI225653,BP368949,BT019788,CR456760,CR541839,CR600145,CR603198,CR607350,CR614764,D21243,DA141643,DA694137,S34389 NP_002125,NP_001120676,NP_001120677,NP_001120678,AAV28730,EAW85299,EAW85300,AAC05297,BAD96349,AAH02396,AAV38591,CAG33041,CAG46638,BAA04789,AAB22110,P30519,Q53HF1,Q6FHB5,Q6IBP2 Hs.284279 GDB:132652 HO-2 heme oxygenase 2 protein-coding 1602121 HMP19 HMP19 protein 15489334,15383276,12477932,10931946,7829526 51617 NM_015980,AC093310,AC113423,CH471062,AF113537,AF123767,AF133422,AK098398,BC002619,BC018873,CR457142,CR596490,CR598992,CR626441 NP_057064,EAW61383,EAW61384,EAW61385,EAW61386,AAF14874,AAP97246,AAD30539,AAH02619,CAG33423,Q6IAL2,Q7Z4X6,Q9Y328 Hs.559412 protein-coding 1344965 HMS1 homosexuality 1 8332896 3165 GDB:251827 1602170 HMSD histocompatibility (minor) serpin domain containing 17409267,8889548 284293 XM_001726956,XM_001720690,XM_001726965,NM_001123366,AC009802,AW205887,BM696260 XP_001727008,XP_001720742,XP_001727017,NP_001116838 Hs.437648 ACC-6|C18orf53 protein-coding 1312652 HMX1 H6 family homeobox 1 1580863 1360670,18423520,10206974,7647458 3166 NM_018942,AC116612,U17648,M99587 NP_061815,AAC50156,AAF70205,Q13028,Q9NP08,AAI60031 Hs.104134 GDB:136412 H6|NKX5-3 protein-coding 1344941 HMX2 H6 family homeobox 2 12477932,7647458 3167 NM_005519,AC012391,CH471066,BC132758,BC137139,BQ929484 NP_005510,EAW49288,AAI32759,AAI37140,A2RU54 Hs.444756 GDB:434309 H6L|Nkx5-2 homeo box (h6 family) 2 protein-coding 1603243 HMX3 H6 family homeobox 3 340784 NM_001105574,AC012391,CH471066,AW088771 NP_001099044,EAW49289 Hs.531194 GDB:438902 Nkx5-1 protein-coding 1348734 HN1 hematological and neurological expressed 1 17081983,16602700,15489334,15094197,12477932,11054553,9373149,8125298 51155 NM_016185,NM_001002032,NM_001002033,AC022211,AF266847,AF348672,CH471099,AF060925,AF086910,AF177862,AF266846,AK223321,AY322169,AY322170,BC001420,BC039343,CD359142,CR590293,CR590555,CR590585,CR592277,CR592678,CR594206,CR594240,CR594573,CR601210,CR602662,CR604677,CR605404,CR605576,CR605958,CR596640,CR608252,CR608874,CR610842,CR613024,CR615283,CR615505,CR616877,CR620568,CR623069,CR624118,CR625805,CR626175,CR626249 NP_057269,NP_001002032,NP_001002033,AAQ14299,AAL83903,AAP83962,AAP83963,EAW89244,EAW89245,EAW89246,EAW89247,AAG43137,AAP97140,AAD53312,AAQ14298,BAD97041,AAP83838,AAP83839,AAH01420,AAH39343,Q9H3K0,Q9UK76,ABM82835,ABM86020,ABM87834,ABW03454 Hs.532803,Hs.651516 GDB:11508401 ARM2|HN1A protein-coding 1312960 HN1L hematological and neurological expressed 1-like 16964243,15489334,15334068,15094197,14702039,12477932,11157797,10718198 90861 AE006639,AL031009,AL031710,AY323831,CH471112,AK023154,AY323978,AY323979,AY598330,BC014438,NM_144570,BC060853,BM474060,BM837125,CR599975 NP_653171,AAK61288,AAK61289,CAA19770,AAP72616,EAW85634,EAW85635,EAW85636,EAW85637,EAW85638,BAB14434,AAP83791,AAP83792,AAT06741,AAH14438,AAH60853,Q4VXZ4,Q4VXZ5,Q4VXZ6,Q9H910 Hs.513261 GDB:11504839 C16orf34|FLJ13092|KIAA1426|L11 protein-coding 1352475 HNB1 hereditary neuroblastoma 1 54111 GDB:10794761 737153 HNF1A HNF1 homeobox A 1601482,1580863,1601479,1601481,2293188 10330009,11980910,15277395,18439552,18439548,18332101,18003757,17965524,17937063,17932728,17828387,17638895,17601994,17573900,17569132,17475670,17458140,17440429,17440016,17407072,17353931,17327436,17264800,17194452,17192490,17130528,17116178,17049664,17037983,17033837,17021248,16963153,16930618,16893891,16873704,16793932,16788384,16781669,16760222,16752173,16714285,16712787,16675441,16639597,16632067,16562587,16443774,16442529,16367885,16297991,16276364,16254374,16249556,16241915,16223942,16186275,16046319,16046299,15983330,15983230,15961790,12730871,12726923,12712243,12707037,12627330,12605834,12574234,12565907,12547858,12544512,12530534,12488962,12488961,12488960,12477932,12453976,12453975,12453961,12453420,12442280,12378390,12355088,12235114,12107757,12107263,12050210,15928245,15899904,15847654,15841481,15830177,15740590,15660729,15660195,15569134,15542842,15522234,15520459,15489334,15326484,15305805,15300627,15270800,15217781,15194767,15111528,14988562,14747304,14728801,14715527,14583183,14575719,14500717,12934344,12860991,12794133,12788852,12773136,12762846,12743700,15930087,12012276,12011060,11978637,11938027,11827432,11772903,11668618,11522670,11440371,11266540,11162430,11134330,10944108,10779377,10777539,10677375,10649494,10588527,10482964,10333057,10209158,10102714,10084598,10078571,9867222,9792724,9754819,9626139,9621514,9604876,9439666,9392505,9313764,9313763,9287055,9287053,9166684,9133564,9112026,9097962,9092652,9075819,9075818,9032114,8945470,8288579,7900999,7795649,2460858,2263635,2044952,1707031,1535333,15616580 1601482,1601479,1601481,2293188 6927 NM_000545,AC079602,CH471054,EF641294,U72618,AW294801,BC104908,BC104910,BE348240,BM854591,CR595845,M57732,X71346,X71347 NP_000536,EAW98226,EAW98227,EAW98228,ABR09270,AAC51137,AAI04909,AAI04911,AAA88077,CAB59201,P20823,ABZ92189 Hs.654455 GDB:125297 HNF1|LFB1|MODY3|TCF1 transcription factor 1 1643461,2289480 BW105_H,SLEP16_H protein-coding 69136 HNF1B HNF1 homeobox B This gene encodes a member of the transcription factor superfamily. The encoded protein forms heterodimers with another member of this transcription factor family, HNF1A. Multiple alternatively spliced transcript variants have been described, however the biological validity all of these variants needs to be determined. 1601484 16297991,10720943,18426861,18332101,18264096,18066692,18037103,17928287,17924661,17923767,17922147,17878605,17603485,17503391,17327436,17267738,17116179,16971658,16873704,16801329,16793932,16781669,16676400,16562587,16479257,16443774,16258507,16249435,15961790,15660195,15647252,15522234,15509593,15489334,15486044,15355349,15111528,15067324,14633622,14583183,12675839,12477932,12161522,12148114,12012276,11918730,11880302,11845238,11845237,11716293,11668623,11206404,11085914,10484768,9671480,9398836,7900999,2081590,2044952,1677179 1601484 6928 NM_000458,AC091199,AC113211,CH471199,U90287,AI797324,AK290131,BC017714,BT007126,CR536572,DC340648,X58840,X71348 NP_000449,EAW57602,EAW57603,AAC63388,BAF82820,AAH17714,AAP35790,CAG38809,CAA41652,CAB59223,P35680,Q6FHW6,ABM82454,ABW03416 Hs.191144 GDB:125298 FJHN|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF2|VHNF1 transcription factor 2 protein-coding 69093 HNF4A hepatocyte nuclear factor 4, alpha The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants. 1601642,1601637,1580863 12220494,7615825,12911579,17827783,18163890,10551874,14563941,18395097,18332101,18305375,18305369,18234786,18199540,18184923,15928245,15919766,15831710,15830177,15826954,15796896,15794920,15793260,15752752,15735892,15735891,15734869,15728204,15660729,15561969,15547294,15520459,15519277,15504983,15470081,15358161,15337761,15322103,15281001,15194767,15123688,15047633,15047632,14988562,14722127,14702039,14654354,14551916,12855700,12829997,12740371,12701690,12697672,12669197,12631740,12627330,12551987,12544512,12522137,12519792,12504020,12413008,12235114,12203996,12133007,12110948,12101254,12089346,12086970,12083813,12050210,12036449,11994285,11916906,11834723,11818510,11811951,11780052,11772903,11741883,11733490,11717395,11590126,11549316,11229886,10995777,10786636,10737800,10652338,10609119,10085149,9812974,9795230,9792724,9717844,9449683,9434765,9371825,9313765,9294105,9267996,9243109,9115274,9048927,8964514,18162503,18056193,18028455,17992261,17965524,17958743,17932483,17923767,17920062,17894829,17891372,17876342,17827402,17805472,16936201,16929032,17785436,17764444,17601994,17576804,17574576,17563455,17466274,17464991,17407387,17403900,17393984,17353931,17344191,17343826,17327436,17317687,17300672,17291450,17264800,17259399,17052457,17022998,17007050,16980607,16978381,16955255,16946562,16893891,16883527,16882880,16873704,16838170,16804065,16771709,16752173,16731861,16731855,16644680,16639597,16584384,16562587,16523192,16502298,16488887,16351573,16338932,16223942,16186411,16051671,16007190,15983230,15933212,8945471,8622695,7926813,7651430,7568236,1899928,12944908,15616580 1601642,1601637 3172 NM_001030003,NM_001030004,NM_000457,NM_178849,NM_178850,AF509467,AL117382,AL132772,CH471077,U72967,U72969,AK096973,AW935533,AY680696,AY680697,AY680698,CB163637,X76930,NM_175914,X87870,X87871,X87872,Z49825 NP_787110,NP_001025174,NP_001025175,NP_000448,NP_849180,NP_849181,AAM34296,CAI23113,CAC01303,CAI18856,CAI18857,CAI18863,EAW75921,EAW75922,EAW75923,EAW75924,EAW75925,AAB48083,AAB48082,BAC04917,AAT91237,AAT91238,AAT91239,CAA54248,CAA61133,CAA61134,CAA61135,CAA89989,P41235,Q5QPB7,Q5TE57,Q8N8C9,Q8NHY1 Hs.116462 GDB:393281 FLJ39654|HNF4|HNF4a7|HNF4a8|HNF4a9|MODY|MODY1|NR2A1|NR2A21|TCF|TCF14 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW177_H,BW178_H protein-coding 1348484 HNF4B hepatocyte nuclear factor 4, beta 8622695 3173 GDB:9837252 1320814 HNF4G hepatocyte nuclear factor 4, gamma 1580863 8622695,17684544,16421571,12544512,12477932,12220494,10512380 3174 NM_004133,AC040917,AF133504,CH471068,AK025222,BC054009,BC105009,BC105011,BX571750,CR542091,Z49826 NP_004124,AAF00110,EAW87040,EAW87041,AAH54009,AAI05010,AAI05012,CAE11875,CAG46888,CAA89990,Q14541,Q6FGL6,Q7Z2V9,Q7Z5U9 Hs.241529 GDB:9837253 NR2A2 protein-coding 733644 HNMT histamine N-methyltransferase In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. 1580863,1300048,1359041 7943261,18266724,18254975,18154359,18086566,17985251,17651147,16950574,16669609,16554448,16489678,16205835,15953854,15815621,15770103,15693910,15489334,14667820,12867290,12835614,12755416,12477932,12417108,12358773,12167489,11566133,10803682,9547362,8605025,8145732,15551002 1359041 3176 NM_001024075,NM_001024074,AB041388,AC093674,AF467014,CH471058,U44111,AA935821,AF523356,AF523357,AF523358,AF523359,AF523360,BC005907,BC020677,NM_006895,U08092,CR613970,D16224 NP_008826,NP_001019246,NP_001019245,BAA94473,AAY24212,AAP42155,EAX11612,EAX11613,EAX11614,AAB18137,AAN33014,AAN33015,AAN33016,AAN33017,AAN33018,AAH05907,AAH20677,BAA03752,AAA17423,P50135,Q8IU56,Q9BRW6,Q9P1Y0,ABM82092,ABM85274 Hs.42151 GDB:328755 HMT|HNMT-S1|HNMT-S2 protein-coding 1318867 HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. 1580863 7585247,12226669,15782174,15635413,15592455,15489334,12477932,12456657,11161817,8889549,8889548,8325628,8012384,1602151 10949 NM_006805,AC106791,CH471062,Z61116,AA081021,AA442538,BC001008,BC007271,BC009284,BC011972,BC012490,BC012980,BC018800,BC018949,BC019271,BC028976,BC030249,BF445078,BM968394,CR456986,CR592229,CR592616,CR592858,CR596658,CR598679,CR599659,CR604783,CR605629,CR607192,CR607265,CR607296,CR608582,CR608808,CR611804,CR614650,CR614845,CR617807,CR618572,CR619462,CR619753,CR622742,CR625176,CR625209,CR625349,L10372,U23803 NP_006796,EAW62182,AAH01008,AAH07271,AAH09284,AAH11972,AAH12980,AAH18949,AAH19271,AAH28976,AAH30249,CAG33267,AAA65094,Q13151,Q6IB18 Hs.96996,Hs.645902 GDB:9958634 HNRPA0 protein-coding 1348965 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is one of the most abundant core proteins of hnRNP complexes and it is localized to the nucleoplasm. This protein, along with other hnRNP proteins, is exported from the nucleus, probably bound to mRNA, and is immediately re-imported. Its M9 domain acts as both a nuclear localization and nuclear export signal. The encoded protein is involved in the packaging of pre-mRNA into hnRNP particles, transport of poly A+ mRNA from the nucleus to the cytoplasm, and may modulate splice site selection. It is also thought have a primary role in the formation of specific myometrial protein species in parturition. Multiple alternatively spliced transcript variants have been found for this gene but only two transcripts are fully described. These variants have multiple alternative transcription initiation sites and multiple polyA sites. 1580863 14667819,15231747,8521471,12226669,9731529,17950949,17898077,17884807,17558416,17353911,17287399,17229681,17110431,17081983,16990281,16916647,16603717,16600502,16097034,15782174,15703818,15703079,15671034,15635413,15592455,15525641,15489334,15342234,15208309,14729942,14703516,14690413,14645369,14633690,14611647,14559993,12945950,12927788,12799433,12665590,12612063,12477932,12458794,12419255,12212851,12060656,11991638,11893730,11884611,11825891,11790298,11779509,11565755,11546873,10843177,10323862,10212141,9925777,9891755,9164463,9144189,9115444,8889548,8883365,8473331,8288564,7769000,7730395,7505766,3023065,2836799,2760922,2176620,1733858,1691095,8663146,16189514,14743216,10383403,15861128 3178 CR600314,CR600495,CR601024,CR601721,CR602906,CR603477,CR603757,CR604435,CR604458,CR605048,CR605418,CR605772,CR607779,CR607943,CR608892,CR609019,CR610363,CR610851,CR610890,CR611042,CR611088,CR611182,CR611606,CR611985,CR612285,CR612776,CR612903,CR613694,CR614407,CR615846,CR616623,CR616984,CR617360,CR617885,CR618106,CR618174,CR618488,CR618573,CR618772,CR619167,CR619770,CR620105,CR620193,CR620719,CR620988,CR621589,CR621950,CR622067,CR622095,CR622443,CR622713,CR624282,CR624350,CR624419,CR624664,CR625195,CR625490,CR625937,CR626448,CR626484,CR626498,CR626543,U00947,NM_002136,AC078778,CH471054,CR598960,X04347,X06747,X79536,X12671,AK129814,AK291113,BC002355,BC004945,BC009600,BC012158,BC020442,BC033714,BC035253,BC052296,BC070315,BC071945,BC073162,BC074502,BC078165,BC103707,BC104236,BC104237,BC121133,BQ277208,BU501222,BX425482,CD705336,CF541085,CR590129,CR590800,CR590877,CR591763,CR593319,CR593400,CR595244,CR595283,CR596532,CR597068,CR597174,CR598050,CR598479,CR598845,NM_031157 NP_112420,NP_002127,EAW96761,CAA27874,CAA29922,CAA56072,P09651,Q0VAC0,Q3MI39,Q3MIB7,Q53GT6,Q6IPF2,Q9BSM5,EAW96762,EAW96763,EAW96764,EAW96765,EAW96766,EAW96767,EAW96768,EAW96769,EAW96770,CAA31191,BAF83802,AAH02355,AAH04945,AAH09600,AAH12158,AAH33714,AAH52296,AAH70315,AAH71945,AAH73162,AAH74502,AAI03708,AAI04237,AAI04238,AAI21134 Hs.655424,Hs.699190 GDB:127388 HNRPA1|MGC102835 protein-coding 1321287 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. 1580863 15659580,16294306,17004321,12226669,9731529,2557628,17067748,16964243,16859514,16775011,16464861,16344560,15782174,15703215,15567486,15375589,15302935,15147968,14692562,14608468,14559993,12945950,12927788,12509629,12477932,12243756,12097415,12065097,12060656,11991638,11790298,11771750,11517223,11510693,10978504,10772824,10441480,10381337,9761751,8029005,7789969,7503735,3733753,1833625,1699755,1602151,15518812,9187682 3181 NM_002137,NM_031243,AC004520,AC010677,CH236948,CH471073,D28877,U09121,U09123,AK026373,AK129839,AK289429,BC000506,BC045724,BX537494,BX538099,BX641084,CR613897,DB244417,M29064,M29065 NP_002128,NP_112533,EAW93834,EAW93835,EAW93836,EAW93837,EAW93838,EAW93839,EAW93840,EAW93841,BAA06031,BAA06032,AAB60650,BAF82118,AAH00506,AAA60271,AAA36574,P22626,Q9BWA9 Hs.487774 GDB:377778 DKFZp779B0244|FLJ22720|HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|RNPA2|SNRPB1 protein-coding 1343696 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3 625404,737633,1580863 8101480,17353931,12226669,17919748,16344560,15815621,15776420,15489334,12477932,11991638,11886857,8093642 625404,737633 220988 NM_194247,AC079305,CH471058,AF517524,AL832246,AY363225,BC012090,BC032437,BC061894,BC064494,BC069022,BC080591,BC112027,BC113470,BX647217,CR603865,CR620336,DB093606 NP_919223,AAY14709,EAX11063,EAX11064,EAX11065,EAX11066,AAM51824,AAQ63629,AAH80591,AAI12028,AAI13471,P51991,Q66K53 Hs.516539 GDB:9955310 2610510D13Rik|D10S102|FBRNP|HNRPA3|MGC138232|MGC142030 protein-coding 1320619 HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. 1580863 9731529,16189514,3110598,12226669,18296503,17159903,17081983,17071612,16960656,16807684,16217013,16010978,15936032,15767428,15731220,15687492,15635413,15494373,15489334,15302935,15082759,14559993,12564933,12509468,12482981,12477932,11991638,11877401,11790298,11162094,10629032,10409733,9516488,9373149,8473331,8264621,8125298,7821789,7567451,3457372,2587210,2557628,1385725,1380452,17353931,10964780 3183 AK225032,AK292619,AL833432,BC003394,BC007052,BC008364,BC008423,BC066932,BC071943,BC089438,BC092433,BC103758,BC108658,NM_001077443,NM_031314,NM_004500,AL135744,BX161480,BX247961,BX247992,CR590393,CR590869,CR593299,CR594564,CR595206,CR596303,CR596572,CR600200,CR600691,CR600838,CR604464,CR605657,CH471078,CQ834840,AB209527,AK126950,AK223517,NM_001077442,CR607544,CR607820,CR608416,CR609418,CR609927,CR610764,CR612035,CR612229,CR613450,CR613941,CR614086,CR614454,CR614691,CR614884,CR614896,CR615305,CR615753,CR615906,CR617382,CR618250,CR618859,CR618906,CR619218,CR619785,CR620056,CR620247,CR620295,CR621771,CR622118,CR622198,CR622546,CR622649,CR622670,CR622833,CR622865,CR623739,CR624217,CR624349,CR624598,D28382,DB449514,M16342,M29063,Z70766 BAF85308,AAH03394,AAH07052,AAH08364,AAH08423,AAH66932,AAH89438,AAH92433,AAI03759,NP_001070910,NP_001070911,NP_112604,NP_004491,AAI08659,CAD61934,CAD62300,CAD62326,BAD97237,EAW66392,EAW66393,EAW66394,EAW66395,EAW66396,EAW66397,EAW66398,EAW66399,EAW66400,CAH05635,BAD92764,BAA05748,AAA52680,AAA36576,P07910,Q569J8 Hs.508848 GDB:6887967 C1|C2|HNRNP|HNRPC|MGC104306|MGC105117|MGC117353|MGC131677|SNRPC protein-coding 1603848 HNRNPCL1 heterogeneous nuclear ribonucleoprotein C-like 1 16710414,12477932 343069 NM_001013631,AL022101,CH471130,BC002696,BC137258,BX283835 NP_001013653,CAA17879,EAW71752,AAH02696,AAI37259,O60812,Q6PKD2 Hs.502617 HNRPCL1|RP5-845O24.4 protein-coding 733451 HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. 1580863 3754960,12107167,12674497,15231747,16556936,16902409,1433497,10205060,12226669,18240226,18202450,17878526,17626845,17486099,17081983,17030625,16954375,16835382,16494882,16289864,16236267,16155006,16144962,16109718,16094384,15951444,15815621,15782174,15734733,15659558,15514034,15489334,15302935,15257295,14711832,14585195,14559993,12819195,12819194,12477932,12388589,12356764,11903055,11856759,11531333,11051545,10933876,10900464,10080887,10024518,9632798,9615222,9521873,9234743,8661052,8246982,7673195 3184 NM_001003810,NM_031369,NM_002138,NM_031370,AC124016,CR621925,D55671,D55672,D55673,D55674,M94630,X03910,AF026126,CH471057,AF039575,AK057836,AK292707,BC002401,BC023977,BC026015,BF693760,BG180865,BG180941,BG325979,BM825808,BM832779,CR599364 NP_001003810,NP_112737,NP_002129,NP_112738,BAA09522,BAA09523,BAA09524,BAA09525,AAA35781,CAA27544,Q12771,Q14103,Q9UCE8,ABM83166,ABM86366,AAC23474,AAC23475,AAC23476,EAX05872,EAX05873,EAX05874,EAX05875,EAX05876,EAX05877,EAX05878,EAX05879,EAX05880,EAX05881,EAX05882,EAX05883,AAB96683,BAF85396,AAH02401,AAH23977,AAH26015,AAY40913 Hs.480073 GDB:9391694 AUF1|AUF1A|HNRPD|P37|hnRNPD0 rna binding protein p45auf1 protein-coding 1349083 HNRNPF heterogeneous nuclear ribonucleoprotein F This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 9111328,12226669,17081983,16885237,16713569,16424007,16344560,16236267,15635413,15592455,15489334,15302935,15164054,14980514,14702039,12477932,12388589,11991638,11827452,11158309,11054566,11003644,10620016,10456323,9858532,7512260,1351868,16189514,7499401 3185 NM_001098204,NM_004966,NM_001098205,NM_001098206,NM_001098207,NM_001098208,AL450326,AL512654,AB062287,AI133166,AK001364,AL542769,AW069399,BC001432,BC004254,BC015580,BC016736,BC106008,CR604764,CR608803,CR616917,CR976524,DA535143,DA594075,DA679417,DB011453,DB049909,L28010,CH471160 NP_001091674,NP_004957,NP_001091675,NP_001091676,NP_001091677,NP_001091678,CAI17066,EAW86595,EAW86596,EAW86597,EAW86598,EAW86599,BAB93470,AAH01432,AAH04254,AAH15580,AAH16736,AAI06009,AAC37584,P52597,Q8NI96,ABM86307,ABW03801 Hs.808 GDB:5429144 HNRPF|MGC110997|OK/SW-cl.23|mcs94-1 protein-coding 1347066 HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. It is very similar to the family member HNRPF. This gene is thought to be potentially involved in hereditary lymphedema type I phenotype. 1580863 7499401,9111328,12226669,17081983,16344560,16236267,16169070,15635413,15592455,15489334,15456888,15324660,15302935,15144186,14980514,14702039,14559993,12477932,12388589,11991638,11790298,11003644,10456323,9973292,9858532,7512260,1602151,1286667 3187 NM_005520,AC136604,CH471165,AK092273,AK124530,BC001348,BX647205,CR456778,CR749414,DA603645,L22009 NP_005511,EAW53807,EAW53808,EAW53809,AAH01348,CAG33059,CAH18256,AAA91346,P31943,Q68DG4,Q6IBM4 Hs.604001 GDB:5428597 DKFZp686A15170|HNRPH|HNRPH1|hnRNPH protein-coding 1605724 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 (H') This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. 7499401,12226669,17081983,16171461,15772651,14980514,14729942,11571276,11054566,10456323,9110171,8425221,8380905,7959728,14743216 3188 NM_019597,NM_001032393,NG_007119,AL035422,CH471115,U78027,BC130343,BC130345,BM997703,BU167621,CR624721,U01923 NP_062543,NP_001027565,CAB55879,EAX02864,AAB64202,AAI30344,AAI30346,P55795 Hs.632828 GDB:5428875 FTP3|HNRPH'|HNRPH2|hnRNPH' protein-coding 733485 HNRNPK heterogeneous nuclear ribonucleoprotein K This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. 8107114,12029088,16713569,12226669,16130169,1729596,17672864,17667925,17561226,17483488,17191129,17081983,16964243,16564677,16496041,16492668,16404425,16360036,16344560,16293596,16189514,16004877,15860232,15782174,15671036,15635413,15514164,15489334,15486205,15302935,15170860,15039586,14702039,14562022,14559993,12951515,12529443,12477932,12411317,12388589,12370808,12183465,12093748,12052863,11991638,11867641,11840567,11790298,11748221,11741984,11557983,11259409,11231586,10809782,10772858,10749975,10369774,10329716,9651361,9553145,9185665,8889548,8833161,8810341,8628302,8398153,8152927,8051112,7862126,7516469,12183049,10506147 3190 NM_031262,NM_031263,AL354733,CH471089,DC407458,S74678,X72727,AB209562,AK096385,AK123117,AK291336,AY911506,BC000355,BC013220,BC014980,BC025321,BU736090,CR456771,CR590155,CR592028,CR595399,CR608126,CR608448,CR621069,CR622928,CR625621,DA394419,NM_002140 NP_002131,NP_112552,NP_112553,CAI16018,CAI16019,CAI16020,CAI16021,CAI16022,EAW62675,EAW62676,AAB20770,CAA51267,P61978,Q5EC54,Q5T6W1,Q5T6W2,Q5T6W4,Q5T6W5,Q6IBN1,ABM81653,ABM84828,EAW62677,EAW62678,EAW62679,EAW62680,EAW62681,BAD92799,BAF84025,AAW84289,AAH00355,AAH14980,CAG33052 Hs.695973 GDB:306574 CSBP|FLJ41122|HNRPK|TUNP protein-coding 737263 HNRNPL heterogeneous nuclear ribonucleoprotein L Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. 1580863 2687284,17353931,12226669,18202450,18073345,16024770,15790807,14702039,14528909,12869704,12576095,12477932,12447348,12130696,11809897,11280764,10772858,10737800,10441480,9880507,9563502,2576798,1286667,15889141,10809782 3191 NM_001005335,NM_001533,AC008982,CH471126,AB044547,AK092828,AK094966,AK097975,AK292115,AV743120,AY927544,BC069184,BI256815,BI461733,BM997815,BQ334900,X16135 NP_001005335,NP_001524,EAW56826,EAW56827,EAW56828,BAB18649,BAF84804,AAH69184,CAA34261,P14866,Q6NTA2 Hs.654559 GDB:9246622 FLJ35509|HNRPL|P/OKcl.14|hnRNP-L protein-coding 731710 HNRNPM heterogeneous nuclear ribonucleoprotein M This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Multiple alternatively spliced transcript variants are known for this gene but only two transcripts has been isolated. 1580863 9731529,14667819,17353931,12226669,8088785,17081983,16964243,16189514,15635413,15561718,15489334,15456888,15345747,15324660,15175327,15146197,14597422,12477932,11991638,11984006,11823437,11790298,11406629,8692693,8441656,7558047,14743216 4670 L03532,L32611,X72018,NM_005968,NM_031203,AC136469,CH471139,AB209733,AF061832,AK024911,AL713781,BC000138,BC008895,BC018916,BC019580,BC038753,BC045573,BC058893,BC064588,CN350489,CN350526,DB481659 AAA36192,AAL31359,CAA50897,P52272,Q59ES8,Q6P2D7,Q6PD71,Q7KYM9,Q8TCM5,NP_005959,NP_112480,EAW68919,EAW68920,EAW68921,EAW68922,EAW68923,BAD92970,AAC16002,CAD28541,AAH00138,AAH08895,AAH19580,AAH64588 Hs.465808,Hs.666214 GDB:250465 DKFZp547H118|HNRNPM4|HNRPM|HNRPM4|HTGR1|NAGR1 protein-coding 736504 HNRNPR heterogeneous nuclear ribonucleoprotein R This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs and also contains a nuclear localization motif. Multiple alternatively spliced transcript variants have been found for this gene. 1580863 16710414,16344560,15858414,15635413,15188402,12477932,12388589,12183049,11991638,11773003,11574476,16189514,9421497,17353931,12226669,17672918 10236 NM_001102397,NM_001102399,NM_005826,NM_001102398,AL109936,CH471134,AF000364,AK098580,BC001449,BC110389,BX538163,BX640912,BX647784,DA773186,DQ351905 NP_001095867,NP_001095869,NP_005817,NP_001095868,CAI19026,CAI19027,EAW95040,EAW95041,EAW95042,AAC39540,AAH01449,AAI10390,CAD98043,CAE45953,ABC73063,O43390,Q0VGD6,Q2L7G6,Q6MZS5,Q7Z334,Q9BV64,ABM83094,ABM86288 Hs.373763 GDB:9955788 FLJ25714|HNRPR|hnRNP-R protein-coding 731482 HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. 1580863 1628625,17220478,12226669,7509195,17081983,16924231,16916646,16710414,15782174,15711563,15592455,15489334,15364944,15121898,15096513,14702039,14559993,12855701,12840015,12686378,12477932,12388589,11991638,11909954,11850407,11850402,11813259,10862698,10671544,10490622,10348913,9563502,9405365,9353307,9105675,9079809,8943344,8670859,8068679,7993898,7831290,7753047,15778465 3192 NM_031844,NM_004501,BX323046,CH471148,AF068846,AF461014,AK095525,AK126868,AK130669,BC003367,BC003621,BC007950,BC015782,BC024767,BC034925,CR602578,CR608250,CR614336,CR624054,X65488 NP_114032,NP_004492,CAI11055,CAI11056,CAI11057,CAI11058,EAW77126,EAW77127,AAC19382,AAP97707,AAH03367,AAH03621,AAH07950,AAH15782,AAH24767,AAH34925,CAA46472,Q00839,Q5RI17,Q5RI18,Q5RI19,Q7Z4Q5,Q96BA7,Q9UEL2,ABM84242,ABM87630 Hs.166463 GDB:347585 HNRPU|SAF-A|U21.1 transporter protein; system n1 na+ and h+-coupled glutamine transporter protein-coding 1316659 HNRNPUL1 heterogeneous nuclear ribonucleoprotein U-like 1 This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus E1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by E1B-55kDa in adenovirus-infected cells. Two transcript variants encoding different isoforms have been found for this gene. Additional variants have also been found, but their full-length natures have not been determined. 9733834,15907477,17353931,12226669,17121608,17081983,16690874,16169070,15489334,15302935,15242333,15231748,15144186,14702039,12489984,12477932,11513728,11073998,10668806,9373149,8889548,8125298,16189514 11100 NM_144732,NM_007040,AC011462,AC011510,CH471126,AJ007509,AK001229,AK021455,AK022863,AK023006,AK127057,AK225850,AK290729,AK291315,AK291762,AL050146,BC000860,BC002564,BC004242,BC009988,BC014232,BC027713,BM976139,CR594584,CR621310,DC318049,DC366321,DC403921 NP_653333,NP_008971,EAW57024,EAW57025,EAW57026,EAW57027,EAW57028,EAW57029,CAA07548,BAB13831,BAC86806,BAF83418,BAF84004,BAF84451,CAB43291,AAH02564,AAH04242,AAH09988,AAH14232,AAH27713,Q9BTB7,Q9BUJ2 Hs.155218 E1B-AP5|E1BAP5|FLJ12944|HNRPUL1 protein-coding 1606938 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U-like 2 17081983,16964243,14702039,12477932,8068679 221092 NM_001079559,AP001160,AP001458,CH471076,AK122942,AL834470,BC029105,BC032369,DQ470474 NP_001073027,EAW74084,CAD39129,ABF00125,Q1KMD3 Hs.710212 DKFZp762N1910|HNRPUL2 protein-coding 1350329 HNRPA1L heterogeneous nuclear ribonucleoprotein A1-like 1733858 3179 GDB:127389 1347288 HNRPA1L3 heterogeneous nuclear ribonucleoprotein A1-like 3 2836799 388275 NG_005529,AC021224 pseudo 1351717 HNRPA1P1 heterogeneous nuclear ribonucleoprotein A1 pseudogene 1 387037 1345278 HNRPA1P2 heterogeneous nuclear ribonucleoprotein A1 pseudogene 2 387038 1354354 HNRPA1P3 heterogeneous nuclear ribonucleoprotein A1 pseudogene 3 170524 NG_001041,AL050348 GDB:11506135 dJ447F3.1 pseudo 1602034 HNRPA1P4 heterogeneous nuclear ribonucleoprotein A1 pseudogene 4 389674 NG_005789,AC022260,AC060765,AC069359 pseudo 1350276 HNRPA3P1 heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 This locus shares sequence similarity with heterogeneous nuclear ribonuclear proteins and represents an apparent transcribed pseudogene of the HNRPA3 gene, which maps to chromosome 2. 15776420,11886857,8101480,8093642 10151 NR_002726,AL355989,S63912 Hs.632956 D10S102|FBRNP|HNRPA3 pseudo 1603170 HNRPA3P2 heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 170526 NG_001042,AL031662,AL050318 CAI21402,Q5TH29 HNRPA3P|dJ977B1.2 pseudo 730896 HNRPAB heterogeneous nuclear ribonucleoprotein A/B This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 8999813,17353931,16964243,15782174,15489334,14722087,14704337,14702039,12692135,12477932,12388589,11937625,11790298,11313474,9373149,8895530,8125298,1717314,11352648,11565755 3182 NM_031266,NM_004499,AC136632,CH471165,AI199152,AK054600,AK097657,AK223425,BC001616,BC002625,BC004561,BC009359,BC015556,BC036708,CR590133,CR591328,CR602810,CR606019,CR607074,CR608100,CR609806,CR610440,CR610544,CR610666,CR616453,CR617383,CR619752,CR619932,CR619967,CR620427,CR623272,M65028,U76713,Z36844 NP_112556,NP_004490,EAW53842,EAW53843,EAW53844,EAW53845,BAC05134,BAD97145,AAH01616,AAH02625,AAH04561,AAH09359,AAH36708,AAA36575,AAC50956,Q53F64,Q99729 Hs.248746,Hs.591731 GDB:128837 ABBP1|FLJ40338 protein-coding 1343036 HNRPCP heterogeneous nuclear ribonucleoprotein C pseudogene 319133 NG_002511,AL133312,AL135752 pseudo 1320569 HNRPDL heterogeneous nuclear ribonucleoprotein D-like This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Two alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein encoded by this gene is similar to its family member HNRPD. 9538234,17353931,10072754,17592041,15302935,15190078,12477932,11705999,9847074,9524220,16189514 9987 NM_005463,NR_003249,AB017018,AC110787,AC124016,CH471057,CR607924,CR611909,CR614067,CR614785,CR615355,CR615922,CR616930,D89092,D89678,X75683,AY453824,BC007392,BC011714,BC018961,BC071944,CR407623,CR590310,CR593853,CR594812,CR598033,CR600214,CR604391,CR605042,CR606578,AB017019,AB066484,NM_031372 ABM83797,ABM87118,NP_112740,NP_005454,BAA75239,BAA75240,AAY40914,EAX05885,EAX05886,EAX05887,EAX05888,EAX05889,EAX05890,BAA24361,BAA22860,O14979,BAB62188,AAR17782,AAH07392,AAH11714,AAH71944,CAG28551,EAX05891,BAA75241 Hs.527105 GDB:9864927 HNRNP|JKTBP|JKTBP2|laAUF1 protein-coding 1352411 HNRPDP heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 8661052 8251 NG_000874,AL356003 GDB:9954647 AUF1B|AUF1P pseudo 1320680 HNRPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9) This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Multiple alternative transcript variants seem to be present for this gene and some appear to have intronic regions in the mRNA. Presently, only two transcript variants are fully described. 1580863 11004512,9373149,9110174,8619474,8125298,1286667,10858537,17353931,8999868,17081983,16169070,15635413,15592455,15489334,14702039,12477932,11790298,11152131 3189 NM_021644,AC016395,AF132360,CH471083,AF052131,NM_012207,AF132361,AF132362,AF132363,AF132364,AK091411,AK093710,AK223441,AK291547,AL117395,BC004511,BC039824,CR606530 NP_036339,NP_067676,AAF68843,AAF68844,AAF68845,AAF68846,AAF68847,AAF68848,EAW54280,EAW54281,EAW54282,EAW54283,EAW54284,EAW54285,EAW54286,EAW54287,EAW54288,EAW54289,AAF68849,AAF68850,AAF68851,AAF68852,BAD97161,BAF84236,CAB55897,AAH04511,AAH39824,P31942,Q53F48 Hs.699337 GDB:9834650 2H9|FLJ34092 protein-coding 1353271 HNRPLL heterogeneous nuclear ribonucleoprotein L-like 1580863 14667819,16713569,15635413,15489334,15256261,12477932 92906 NM_138394,AC011247,AF461716,AF461722,CH471053,AK000155,AK291462,AK292259,AL512692,AY236962,AY236963,BC008217,BC017480,CR600541 NP_612403,AAY24302,AAN76189,AAN76190,EAX00368,EAX00369,EAX00370,EAX00371,EAX00372,BAF84151,BAF84948,CAH56358,AAQ20083,AAQ20084,AAH08217,AAH17480,Q53T80,Q5JB51,Q5JB52,Q8WVV9 Hs.445497 SRRF protein-coding 1352653 HNRPUP heterogeneous nuclear ribonucleoprotein U pseudogene 319134 NG_002512,AL583809 pseudo 1603310 HNT neurotrimin This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple alternatively spliced variants have been found but only two variants have had their full-length sequences determined. 7891157,15489334,15379248,15340161,12975309,12819783,12477932,12107410,8889548 50863 NM_001048209,NM_016522,AP000844,AP002355,AP003025,AP003039,AP003166,AP004248,AP004372,AP004722,AP005155,CH471065,CS287743,AA854425,AF126426,AI360870,AI573168,AY358331,BC050716,BE222817,BE263639,BE504685,BF064266,BI913885,BM548429,BM726313,CA392146,CR602526,EF043567 NP_001041674,NP_057606,EAW67800,EAW67801,EAW67802,CAK18708,AAF37591,AAQ88697,AAH50716,ABK34282,Q9P121 Hs.504352 MGC60329|NTM protein-coding 1348517 HOAC hypoacusis 2 (autosomal recessive) 2791656 3193 GDB:118812 1354218 HOMER1 homer homolog 1 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. 633024,633023,1580863 9808458,9808459,16314758,16189514,15745950,15691715,15673434,15489334,15033484,14660561,14528310,14505576,12887973,12815733,12810060,12223488,12107410,11418862,10851183,10833436,10464340,10433269,9373149,9069287,8889549,8125298,12477932 633024,633023 9456 NM_004272,AC020898,AC093270,CH471084,CS301484,AA029302,AF093262,AK223471,AY189939,AY189940,AY189941,BC015502,BC047438,BT009846,BU933636,CA396459,CB052446,Y17829 NP_004263,EAW95835,EAW95836,CAK31441,AAC71026,BAD97191,AAO38999,AAO39000,AAO39001,AAH15502,AAH47438,AAP88848,CAA76877,Q53F18,Q5U5K4,Q86YM6,ABM82204,ABM85392,Q86YM7 Hs.591761 HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1 protein-coding 1354175 HOMER2 homer homolog 2 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein may be involved in cell growth. Four transcript variants encoding distinct isoforms have been identified for this gene. 633024,633023 9808458,18218901,16314758,15944415,15489334,12815733,12676529,12477932,12378015,10653696,9808459,16189514,12223488,14528310 633024,633023 9455 NM_199332,NM_004839,NM_199331,AC022558,AC044907,CH471188,AF081530,AF093263,AF093264,AK292772,AY062316,BC012109,Y19025,Y19026,NM_199330,Y19027,Y19028 NP_955362,NP_955364,NP_004830,NP_955363,EAW62435,EAW62436,AAD13748,AAC71027,AAC71028,BAF85461,AAL65744,AAH12109,CAB75537,CAB75538,CAB75539,CAB75540,Q9NSB8,ABM83250,ABM86452 Hs.578443 ACPD|CPD|HOMER-2|HOMER2A|HOMER2B|Vesl-2 protein-coding 1349435 HOMER2P1 homer homolog 2 (Drosophila) pseudogene 1 317768 1352201 HOMER2P2 homer homolog 2 (Drosophila) pseudogene 2 317769 731655 HOMER3 homer homolog 3 (Drosophila) This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein may be involved in cell growth. 633024 10653696,9808458,18218901,16979624,16189514,16098226,15489334,15057824,14645007,12815733,12477932,12223488,9808459,9069287,14505576 633024 9454 NM_004838,AC002985,CH471106,AF093265,AK124450,AL529052,BC012113,BM915739,BT019464,CR601631,CR604554,CR604813,CR617622,CR618184,CR626845,Y17573,Y18894,Y18895,Y18896 NP_004829,AAB81545,EAW84762,EAW84763,EAW84764,EAW84765,Q5U0L9,Q9NSC1,Q9NSC5,ABM83483,ABM86697,AAC71029,AAH12113,AAV38271,CAB75536,CAB75543,CAB75544,CAB75545 Hs.410683 HOMER-3 homer, neuronal immediate early gene, 3 protein-coding 735425 HOMEZ homeobox and leucine zipper encoding 15489334,15302935,14702039,12925734,12477932,11948623,10718198 57594 NM_020834,AL049829,CH471078,AB037864,AF463523,BC045733,BC130392,DC398645 NP_065885,EAW66175,EAW66176,EAW66177,BAA92681,AAN76991,AAI30393,Q8IX15 Hs.632332 KIAA1443 homeodomain-leucine zipper protein homez protein-coding 1320626 HOOK1 hook homolog 1 (Drosophila) This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. 15471887,16964243,16710414,16189514,15882442,15823567,15489334,14702039,12477932,12075009,11238449,9927460,17353931 51361 NM_015888,AC113175,AL035416,CH471059,AA576610,AF044923,AK027250,AK097735,AK098561,AK292314,BC011621,BC107857 NP_056972,EAX06615,EAX06616,AAC09298,BAF85003,AAH11621,AAI07858,Q32Q39,Q5TG45,Q9UJC3,ABM82883,ABM86069 Hs.378836 HK1|MGC10642 protein-coding 1320916 HOOK2 hook homolog 2 (Drosophila) Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM] 16189514,9927460,17540036,15882442,15489334,12477932,11238449 29911 AF044924,BC012443,CR590832,DB474423,NM_001100176,NM_013312,AC018761,CH471106 EAW84305,EAW84306,AAC09299,AAH12443,Q96ED9,ABM82265,ABM84286,ABM85447,ABM87678,NP_001093646,NP_037444 Hs.30792 HK2 protein-coding 1346925 HOOK3 hook homolog 3 (Drosophila) Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM] 1580863 15882442,15489334,15075236,14702039,11238449,17237231,16964243,12477932,9927460,12950921 84376 Q86VS8 NM_032410,AC009634,AC110275,CH471080,AK090540,BC012030,BC023658,BC048304,BC056146 NP_115786,EAW63196,EAW63197,EAW63198,EAW63199,EAW63200,BAC03473,AAH48304,AAH56146,Q86VS8 Hs.162852 HK3 protein-coding 1603377 HOPX HOP homeobox The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggested that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants encoding the same protein have been observed, the full-length nature of only some has been determined. 17576768,17192267,18234960,18052042,17498662,16939210,16381901,15489336,15489334,15457851,15381369,15307938,15213722,14702039,14522464,14516659,12975471,12759545,12573257,12477932,12297045,11076863 84525 NM_139212,NM_032495,NM_139211,AC108215,CH471057,AB019573,AB059408,AB059409,AB059410,AF454763,AF492675,AF492676,AF492677,AF492678,AF492679,AF492680,AF492681,AK096707,AK123318,AK289707,AW955211,BC014225,CR600537,CR611831,CR626269 NP_631958,NP_115884,NP_631957,EAX05502,EAX05503,EAX05504,EAX05505,EAX05506,EAX05507,EAX05508,EAX05509,EAX05510,EAX05511,BAB40926,BAB40927,BAB40928,AAL56613,AAM46827,AAM46828,AAM46829,AAM46830,AAM46832,AAM46833,BAF82396,AAH14225,Q9BPY8,CAL38525,ABM83119,ABW03470,AAM46831 Hs.654864 Cameo|HOP|LAGY|MGC20820|NECC1|OB1|SMAP31|Toto protein-coding 1346134 HORMAD1 HORMA domain containing 1 737633 11256614,16381901,15567723,15489336,14702039,12477932,11230166,11076863 737633 84072 BC047406,CR533505,AL356292,NM_032132,CH471121,AK097390,AK098633,AL136755,AY626344,BC033014 AAH33014,AAH47406,CAG38536,Q0JUF4,Q0JVM1,Q86X24,CAL37439,CAL37857,CAI13652,CAI13653,CAI13654,CAI13655,NP_115508,CAI13656,EAW53520,EAW53521,EAW53522,EAW53523,EAW53524,EAW53525,CAB66689,AAT45740 Hs.298312 DKFZP434A1315|NOHMA|RP11-363I22.1 protein-coding 1348799 HORMAD2 HORMA domain containing 2 737633 15461802,12477932 737633 150280 NM_152510,AC002378,AC003071,CH471095,AK098703,BC030013,CR456341 NP_689723,EAW59859,EAW59860,BAC05388,AAH30013,CAG30227,Q8N7B1,CAK54483,CAK54782 Hs.120391 MGC26710 protein-coding 737614 HOXA1 homeobox A1 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. 1358730,1580863 7622051,17967182,17875913,17213808,17171652,17167333,17131398,16597639,16373333,16344560,16189514,16168961,16155570,15489334,14960295,12908836,12853948,12690205,12482855,12477932,12349873,12210285,11857506,11840501,11091361,11070089,10529419,9582372,9463349,8646877,7488013,1973146 1358730 3198 NM_153620,AC004079,CH236948,CH471073,BC032547,DB246535,S79869,S79871,S79910,U10421,U37431,NM_005522 AAC50250,P49639,ABM81810,ABM84964,NP_005513,NP_705873,AAS00374,EAL24228,EAL24229,EAW93861,EAW93862,AAH32547,AAB35424,AAB35425,AAB35423,AAA86954,AAC50248,AAC50249 Hs.67397 GDB:120652 BSAS|HOX1|HOX1F|MGC45232 homeo box a1 protein-coding 1320375 HOXA10 homeobox A10 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 8972230,7700356,18339267,18190961,17688409,17482600,17439948,17173899,16861351,16647375,16597639,16424022,16344560,16210632,16098858,15905361,15749785,15731295,15674412,15489334,15236964,15213244,14973489,14966272,14960020,14607569,14512427,12853948,12764384,12519859,12493691,12482956,12477932,12215336,12145285,11830466,11752456,11585930,11443215,11290589,10766757,10374871,9525980,9408238,9343407,8646877,7906121,7556525,7527557,2574852,2573064,11875117,11857506,1973146,1676505,1358459 3206 NM_018951,AC004080,AF040714,CH236948,CH471073,X58430,AL710880,AV687088,BC007600,BC013971,BC071843,BC094807,NM_153715,BF196481,BQ215499,BX439708,CR606804,DB267919,M30599,S69027,S69029 NP_714926,NP_061824,AAB96917,EAW93883,EAW93884,EAW93885,EAW93886,CAB86198,AAH07600,AAH13971,AAH71843,AAH94807,AAA36006,AAD14030,AAD14031,P31260,Q504T1,Q5I0Y5,ABM82832,ABM86018,ABM87835 Hs.592166 GDB:120654 HOX1|HOX1.8|HOX1H|MGC12859|PL homeo box a10 protein-coding 735680 HOXA11 homeobox A11 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. 1580863 9745033,18274672,15731295,15674412,15489334,15467538,15167850,14973489,12853948,12690205,12477932,12060755,12050232,11937757,11857506,11841440,11830496,11585930,11396649,11299969,11101832,10084606,8646877,8570656,2574852,1973146,1358459,15260975 3207 NM_005523,AC004080,AF039307,AF071164,CH236948,CH471073,AL551705,BC033706,BC040948,CR611111,CR612696 NP_005514,AAB94761,AAC80455,EAL24220,EAW93887,EAW93888,AAH33706,AAH40948,P31270,Q05BS4,ABZ92009 Hs.249171 GDB:120655 HOX1|HOX1I homeobox a2 protein-coding 1346914 HOXA13 homeobox A13 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. 1599526,1580863 9020844,18245445,17935235,17274802,15617687,14675924,12853948,12690205,12477932,12414828,12112533,12073020,11968094,11857506,11830496,11688568,11206481,10839976,10835276,10656931,10569982,9847074,8646877,2574852,1973146,1358459 1599526 3209 NM_000522,AC004080,CH236948,CH471073,U82827,AL597666,BC016712,BC075791 NP_000513,EAL24218,EAW93890,AAC50993,AAH75791,P31271,Q6DI00 Hs.592172 GDB:120656 HOX1|HOX1J homeo box a13 protein-coding 1353431 HOXA2 homeobox A2 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. 1580863 18394579,14702039,12853948,12690205,11857506,8646877,1358459 3199 AL079274,AW079894,AW292406,BC130571,BC136500,BE465040,BF509655,NM_006735,AC004079,CH236948,CH471073,AI581335,AI796505,AK096742 AAI30572,AAI36501,O43364,NP_006726,AAS00375,EAL24227,EAW93864 Hs.445239,Hs.592177 GDB:137172 HOX1K homeo box a2 protein-coding 1344896 HOXA3 homeobox A3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. 1580863 16582099,15489334,14702039,12853948,12690205,12477932,11857506,11823429,9894676,9847074,9520319,8889548,8646877,1973146,1358459,15782160 3200 NM_153631,NM_030661,NM_153632,AC004079,AC004080,AC010990,CH236948,CH471073,AK056567,AK094200,BC015180,BM984673 NP_705895,NP_109377,NP_705896,AAS00376,EAL24225,EAL24226,EAW93865,EAW93866,AAH15180,O43365,ABM81898,ABM85073 Hs.659337 GDB:120651 HOX1|HOX1E|MGC10155 homeo box a3 protein-coding 736245 HOXA4 homeobox A4 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. 1580863 1675427,17003840,16688227,12853948,12520199,12477932,12031912,11857506,9847074,9665340,9457903,9202392,8688592,8646877,7654365,2576652,2571574,1981366,1973146,1358459 3201 NM_002141,AC004080,CH236948,CH471073,M28199,AI277552,AW445008,BC126994,M74297 NP_002132,EAL24224,EAW93872,AAA53290,AAI26995,AAA58664,Q00056 Hs.533357,Hs.654466 GDB:120650 HOX1|HOX1D homeo box a4 protein-coding 734224 HOXA5 homeobox A5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. 1580863 15489334,14701762,12853948,12690205,12642491,12477932,12163409,11857506,11238043,10879542,10875927,10737800,10397719,9457903,8657138,8646877,8570656,2576652,2568583,1973146,1358459,17957028,17804711,17785556,17167183,16756717,16379594,15757903,15684390,15545268 3202 NM_019102,AC004080,CH236948,CH471073,M26679,AW802886,BC013682,BI822268,BT009744,CR542256,CR542277 NP_061975,EAL24223,EAW93873,AAA58663,AAH13682,AAP88746,CAG47052,CAG47073,P20719,Q6FG31,ABM92210,ABM84687 Hs.655218 GDB:120649 HOX1|HOX1.3|HOX1C|MGC9376 homeo box a5 protein-coding 1352106 HOXA6 homeobox A6 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. 1580863 15489334,12853948,12690205,12477932,11857506,9247466,8646877,2576652,1973146,1358459 3203 NM_024014,AC004080,CH236948,CH471073,BC069497,BC104915,BC104917,BG749730 NP_076919,EAL24222,EAW93874,EAW93875,AAH69497,AAI04916,AAI04918,P31267 Hs.679517 GDB:120648 HOX1|HOX1.2|HOX1B homeo box a6 protein-coding 1343560 HOXA7 homeobox A7 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. 1580863 9804983,17959889,16597639,14704364,14702039,14562113,12853948,12690205,12477932,11857506,11435435,10911612,10737800,9847074,9539109,9405651,8646877,7654365,2576652,2574852,2568891,1973146,1358459 3204 NM_006896,AC004080,AF032095,CH236948,CH471073,U92543,X84803,AF026397,AW793597,BC061916 NP_008827,AAD01939,EAL24221,EAW93877,AAD00727,CAA59270,AAB94604,P31268,AAI40402,AAI48693 Hs.660918 GDB:120647 ANTP|HOX1|HOX1.1|HOX1A protein-coding 1320652 HOXA9 homeobox A9 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. 1580863 16189514,8563754,18068911,17885552,17761289,17623056,17586512,17452460,17327400,17178874,16803519,16630659,16381901,16105979,15960975,15657436,15489336,15489334,15479723,15454493,15254242,15161102,15160920,14764452,14738146,14701735,14562113,14561764,12923056,12853948,12649177,12477932,12138901,12112533,12082612,11857506,11830496,11551904,11076863,11042172,10082572,9880515,9657735,9628584,9058712,8646877,8563753,2574852,1973146,1358459,12393433,15960974,15681849 3205 AC004080,AF010258,CH236948,CH471073,U81511,AW612618,BC006537,BC010023,BG258601,BT006990,CA442923,U41813,U82759,NM_152739 NP_689952,AAD08713,EAW93880,AAC23704,AAC23705,AAH06537,AAH10023,AAP35636,AAC50364,AAB40867,O75805,O75806,P31269,Q0JSW0,CAL38404,ABM83674,ABM86962 Hs.659350 GDB:120653 ABD-B|HOX1|HOX1.7|HOX1G|MGC1934 homeo box a9 protein-coding 1348178 HOXA@ homeo box A cluster 1973146,1358459 3197 GDB:120646 1321119 HOXB1 homeobox B1 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. 1580863 10052460,17713478,17167333,12487626,12477932,11972344,11857506,11840501,11278854,11091361,11069920,10671062,10373562,10331985,9482740,8646877,8570656,7913891,2576652,2574852,1973146,1358459 3211 NM_002144,AC103702,AF287350,CH471109,BC096191,BC096192,BC096193,BC099633,X16666 NP_002135,AAG31762,EAW94746,AAH96191,AAH96192,AAH96193,AAH99633,CAA34656,P14653,Q4VB01,Q4VB03,Q9HB13 Hs.99992 GDB:120666 HOX2|HOX2I|Hox-2.9|MGC116843|MGC116844|MGC116845 homeo box b1 protein-coding 1319269 HOXB13 homeobox B13 This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. 1580863 9665387,17975144,17942676,17145863,17008703,16792730,16609019,16609001,15928669,15756448,15604291,15489334,15126340,12761847,12477932,11857506,9373149,9343407,8756292,8125298 10481 NM_006361,AC091179,CH471109,AK225234,AY937237,BC007092,BC070233,BT007410,U57052,U81599 NP_006352,EAW94714,AAY17396,AAH07092,AAH70233,AAP36078,AAC50664,AAB39863,Q4KR72,Q92826,ABM84443,ABM87495 Hs.66731 GDB:5875383 PSGD homeo box b13 protein-coding 1320419 HOXB2 homeobox B2 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. 1580863 1871139,7876223,17805056,16458891,15867264,15489334,12802276,12477932,11857506,11835749,11585930,11238043,10595394,10230789,9556594,7913891,2901346,2576652,2574852,2570724,1973146,1358459 3212 NM_002145,AC103702,CH471109,U12590,X16176,X78978,AA450237,BC038968,BC074805,BC074806,M73999,X14571,X16665 NP_002136,EAW94743,EAW94744,EAW94745,AAA21150,CAA34298,CAA55581,AAH74805,AAH74806,AAB00778,CAA32709,CAA34655,P14652,Q14548,ABZ92010 Hs.514289 GDB:120665 HOX2|HOX2H|Hox-2.8|K8 protein-coding 1321880 HOXB3 homeobox B3 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). 1580863 16344560,1358459,15674412,15146197,15085154,14966272,14702039,11971819,11857506,9774637,9556594,9052833,8920965,8646877,7913891,2576652,2574852,2570724,1973146 3213 NM_002146,AC103702,AF016029,AF287967,CH471109,X16175,AI633956,AK027609,AK291182,CN358294,DA735249,U59298,X16667 NP_002137,AAG31555,EAW94739,EAW94740,EAW94741,CAA34297,BAF83871,AAD10852,CAA34657,P14651 Hs.654560 GDB:120664 HOX2|HOX2G|Hox-2.7 protein-coding 1344417 HOXB4 homeobox B4 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. 1580863 17962697,17784829,17510218,15489334,14966272,14578882,12791656,12761847,12701098,12477932,12406897,12130496,11984874,11585930,11250656,11085749,10904875,8889548,8688592,2576652,2574852,2570724,1981366,1973146,1358459,1351762 3214 NM_024015,AC103702,AF287967,AF307160,CH471109,X16174,AL137449,BC049204,BM972328,BU161354,CR604653 NP_076920,AAG31554,AAG45052,EAW94742,CAA34296,CAB70742,AAH49204,P17483 Hs.664706 GDB:120663 HOX-2.6|HOX2|HOX2F homeo box b4 protein-coding 1342680 HOXB5 homeobox B5 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. 1580863 3000607,17623056,15489334,14632303,12950074,12897140,12477932,11857506,11839528,8930688,8688592,8646877,8101633,4075393,3453105,3186746,2878432,2576652,2574852,2570724,1981366,1973146,1358459,1355360,6091895 3215 NM_002147,AC103702,AF287967,CH471109,K02572,BC004454,BC008940,BC117247,BE621135,BQ001097,BQ073272,M86726,M92299,X03794 NP_002138,AAG31553,EAW94737,AAA52681,AAI17248,AAB59430,AAA52682,CAA27420,P09067 Hs.654456 GDB:120658 HHO.C10|HOX2|HOX2A|HU-1|Hox2.1 homeo box b5 protein-coding 1602502 HOXB6 homeobox B6 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. 17003840,16189514,15489334,15269212,13678718,12477932,12094253,11857506,11585930,11238043,10906782,10833444,10327653,9922051,9126347,9108390,8696343,8646877,7906121,7729685,6091895,2888083,2576652,2574852,2573064,2570724,1981366,1973146,1672751,1358998,1358459 3216 AC103702,AF287967,CH471109,K02571,X58431,AI283987,AI352188,AK292200,AW370639,BC014651,M30597,S69023,NM_018952 Q16124,ABM81658,NP_061825,AAG31552,EAW94728,EAW94729,EAW94730,EAW94731,CAA41335,CAA41336,BAF84889,AAH14651,AAA36004,AAD14028,P17509 Hs.98428 GDB:120659 HOX2|HOX2B|HU-2|Hox-2.2 protein-coding 1349103 HOXB7 homeobox B7 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. 1580863 17308091,1678287,2885844,17514648,17274802,17203973,17018609,16673309,16597639,15756441,15342556,12697323,12477932,11857506,11522651,11290787,10435624,10233891,10208421,10026139,9373149,9681827,9457903,9366523,8756643,8646877,8570656,8125298,8105782,7738096,7530503,2576652,2574852,2573064,2570724,1981366,1973146,1358459,7729685 3217 NM_004502,AC103702,AF284825,AF287967,AJ414528,CH471109,AK223249,AK290653,BC015345,BG118354,BM923808,BP342702,BQ233410,M16937,M30598,S49765 NP_004493,AAG29814,AAG31551,CAC93674,EAW94725,EAW94726,BAD96969,BAF83342,AAH15345,AAA36003,AAA36005,AAB19469,P09629,Q53FN3,Q96BQ6,Q9HB12,Q9HB28 Hs.436181 GDB:120660 HHO.C1|HOX2|HOX2C|Hox-2.3 protein-coding 1345658 HOXB8 homeobox B8 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. 1580863 14702039,11857506,11779477,11571641,11438208,10737800,9126347,8646877,2576652,2574852,2570724,1981366,1973146,1358459 3218 NM_024016,AC103702,AY014293,AY014294,CH471109,X16173,AI277015,AI672407,AK096222,AW612644,BF761142 NP_076921,AAG42143,EAW94723,EAW94724,CAA34295,BAC04730,P17481,Q8N8T3,AAI41561 Hs.514292 GDB:120661 HOX2|HOX2D|Hox-2.4 protein-coding 1314613 HOXB9 homeobox B9 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. 1580863 10617598,17148583,16344560,16189514,15839736,15489334,14702039,12477932,11857506,11585930,11485933,11070089,9922051,8646877,2576652,2574852,2570724,1981366,1973146,1712647,1358459 3219 X16172,AK026084,AK056123,AK056414,BC015565,BF305592,BX114117,CA426693,DA696753,DA712230,NM_024017,AC103702,AY014295,AY014296,CH471109 EAW94721,CAA34294,AAH15565,P17482,NP_076922,AAG42144 Hs.463350 GDB:120662 HOX-2.5|HOX2|HOX2E homeo box b9 protein-coding 1344128 HOXB@ homeo box B cluster 1973146,1358459 3210 GDB:120657 1316332 HOXC10 homeobox C10 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. 1580863 10835276,11445587,17974957,15489334,12853486,12477932,11857506,9357979,8646877,2878432,2574852,1358459,16189514 3226 AC012531,CH471054,AF255675,AL558161,BC001293,NM_017409,BT009921,CR600861,CR622939,X99684,X99685 NP_059105,EAW96738,EAW96739,EAW96740,AAF67759,AAH01293,AAP88923,CAA67999,CAA68000,Q53XI4,Q9NYD6 Hs.44276 GDB:137175 HOX3I|MGC5259 protein-coding 1313485 HOXC11 homeobox C11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined. 1580863 9582375,17488478,15489334,12477932,11857506,9357979,8646877,2878432,2574852,1973146,1358459 3227 NM_014212,AJ000041,AK291946,BC001543,CR602963,X99630,AC012531,CH471054 EAW96736,CAA03876,BAF84635,AAH01543,O43248,NP_055027 Hs.127562 GDB:127541 HOX3H|MGC4906 protein-coding 1321500 HOXC12 homeobox C12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. 1580863 11857506,9357979,2574852,1973146,1358459 3228 NM_173860,AC012531,AF328962,AF328963,CH471054,AK125569,X99631 NP_776272,AAK16717,EAW96735,BAC86206,P31275,Q6ZUL4 Hs.381267,Hs.587727 GDB:120673 HOC3F|HOX3|HOX3F protein-coding 1349214 HOXC13 homeobox C13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. 1580863 10835276,15489334,15385554,14702039,12477932,12461755,11857506,11118201,10674376,9357979,8646877,2878432,2574852,1973146,1358459 3229 BU158600,CR611726,X99679,NM_017410,AC012531,CH471054,AA722686,AF255676,AF263466,AK024027,BC002754,BC090850,BT009908 AAP88910,CAA67995,P31276,Q6LAM3,Q86TI1,NP_059106,EAW96734,AAF67760,AAF73439,BAB14786,AAH02754,AAH90850 Hs.118608 GDB:120674 HOX3|HOX3G homeo box c13 protein-coding 1351931 HOXC4 homeobox C4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. 1580863 16582099,16344560,16215934,15674412,15252056,12672812,12477932,11857506,11279128,9327740,8646877,7915745,7718879,7566098,2898768,2878432,2576652,2574852,1973146,1358459 3221 NM_153633,NG_005542,AC012531,AC023794,AY014297,AY014298,CH471054,AA331371,AA621965,BC050442,BQ893403,CR615968,DA905719,X07495,NM_014620 NP_055435,NP_705897,AAG42145,EAW96744,EAW96749,AAH50442,P09017,Q86TF7,CAA30376 Hs.549040 GDB:120672 HOX3|HOX3E|cp19 protein-coding 1344989 HOXC5 homeobox C5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only. 1580863 1346761,16344560,16215934,12477932,11857506,8646877,7913891,2898768,2878432,2576652,2574852,1973146,1358459 3222 NR_003084,NM_018953,NG_005542,AC012531,AC023794,CH471054,X61755,BC034922,BC044635,X52402 NP_061826,EAW96745,EAW96748,CAA43894,AAH34922,AAH44635,CAA36647,Q00444,Q14543,Q86VY8,AAI40273,AAI41644 Hs.549040 GDB:120671 CP11|HOX3|HOX3D protein-coding 1348360 HOXC6 homeobox C6 This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. 1580863 8870653,17488478,16344560,15839736,15637592,15489334,12477932,11857506,8646877,7738096,2898768,2885844,2878432,2576652,2574852,1973146,1358459 3223 NM_153693,NM_004503,NG_005542,AC012531,CH471054,AW445186,BC074844,BC074845,BF034547,BF108967,CR456954,M16938,S82986 NP_710160,NP_004494,EAW96746,EAW96747,AAH74844,AAH74845,CAG33235,AAA36007,AAB46892,P09630,Q6IB50,ABZ92011 Hs.549040 GDB:120670 CP25|HHO.C8|HOX3|HOX3C homeo box c6 protein-coding 1353627 HOXC8 homeobox C8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. 1580863 16637071,15489334,14973489,12925734,12477932,11857506,11813208,11551904,11139569,10722652,10617598,10224145,9357979,8646877,8104467,2886047,2885844,2878432,2576652,2574852,1973146,1358459,15960974 3224 NM_022658,AC012531,AY014299,AY014300,CH471054,AK290959,BC053898,BU156590,BU618342,X99680,X99681 NP_073149,AAG42146,EAW96743,BAF83648,AAH53898,CAA67996,CAA67997,P31273 Hs.664500 GDB:120668 HOX3|HOX3A homeo box c8 protein-coding 1314056 HOXC9 homeobox C9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. 1580863 17588684,15489334,14973489,14702039,12477932,11857506,9357979,8646877,8570656,7967520,2878432,2576652,2574852,1973146 3225 NM_006897,AC012531,AY014301,AY014302,CH471054,AK000445,BC021265,BC032769,BC053894,CR600750,CR617045,X99682 NP_008828,AAG42151,EAW96741,EAW96742,AAH32769,AAH53894,CAA67998,O15222,P31274,Q8N561 Hs.658823 GDB:120669 HOX3|HOX3B protein-coding 1345222 HOXC@ homeo box C cluster 1973146,1358459 3220 GDB:120667 1319375 HOXD1 homeobox D1 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. 1580863 12477932,11857506,11731253,11455954,11060466,10908280,10364522,8104620,7913891,7501971,2576652,1973146,1358459 3231 NM_024501,AC009336,AF202118,CH471058,AF241528,BC014477,BC028190 NP_078777,AAG29939,EAX11080,AAG44444,AAH14477,AAH28190,Q8IZ25,Q96CA4,Q9GZZ0,ABM83163,ABM86363 Hs.83465 GDB:120682 HOX4|HOX4G|Hox-4.7 homeo box d1 protein-coding 1315169 HOXD10 homeobox D10 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. 1580863 1756725,17417092,17236141,16331564,16103068,15489334,15368082,15146389,14973489,12954737,12477932,12466126,12357469,11857506,11778160,11585930,11060466,10523646,10364522,9773404,8100684,7967520,7913891,2576652,2574852,1981366,1973146,1363084,1358459,1351871 3236 NM_002148,AC009336,CH471058,AA653427,AI651040,AL526269,AW243295,AW299531,BC069619,BC074760,BX114645,X59373 NP_002139,EAX11091,AAH69619,AAH74760,CAA42017,P28358,ABZ92012 Hs.123070 GDB:120679 HOX4|HOX4D|HOX4E|Hox-4.4 homeo box d10 protein-coding 1346896 HOXD11 homeobox D11 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. 1580863 17236141,12477932,12357469,12217321,11857506,11782354,11778160,11493536,11060466,10364522,10075849,9343407,9323126,2574852,1973146,1358459 3237 NM_021192,AC009336,AF154915,CH471058,BC109394,BE260674 NP_067015,AAF79045,EAX11092,AAI09395,P31277,Q14DW8 Hs.421136 GDB:120681 HOX4|HOX4F homeo box d11 protein-coding 1320327 HOXD12 homeobox D12 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. 1580863 17236141,16331564,12477932,12357469,11857506,11778160,11060466,11036080,10364522,9343407,9323126,2574852,1973146,1675198,1358459 3238 NM_021193,AC009336,AF154915,CH471058,BC069088,BC121103,BC121104 NP_067016,AAF79044,EAX11093,EAX11094,AAI21104,AAI21105,P35452,Q0VAD7,Q0VAD8 Hs.450028 GDB:127218 HOX4H homeo box d12 protein-coding 1318172 HOXD13 homeobox D13 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. 1599534,1580863 9207113,8614804,18072967,17853405,17656229,17236141,17216618,16861351,16331564,16222680,12900906,12649808,12620993,12414828,12357469,11857506,11778160,11329013,11060466,9758628,9323126,9005557,8817328,7581388,2574852,1973146,1675198,1358459 1599534 3239 NM_000523,AB032481,AC009336,AF005219,AF005220,CH471058,BG204577,BX100910 NP_000514,BAA95352,AAC51635,EAX11095,P35453,AAI48864,AAI52761 Hs.152414 GDB:127225 BDE|BDSD|HOX4I|SPD homeo box d13 protein-coding 1344554 HOXD3 homeobox D3 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. 1580863 17785556,17126050,15545924,15489334,14633614,14610084,12477932,12405287,11857506,11060466,10648567,10364522,9520319,7913891,7742539,2886047,2576652,2574852,1973146,1712489,1358459,1358204 3232 NM_006898,AC009336,CH471058,D11117,Y09980,BC005124,BC008789 NP_008829,EAX11085,BAA01891,CAA71102,AAH05124,AAH08789,P31249,ABM83900,ABM87221 Hs.93574 GDB:120676 HOX1D|HOX4|HOX4A|Hox-4.1|MGC10470 homeo box d3 protein-coding 1320172 HOXD4 homeobox D4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. 1580863 2879245,15776434,15489334,12477932,11857506,11778160,11585930,11060466,10523646,10364522,9748262,7913891,2576652,1975093,1973146,1358459 3233 NM_014621,AC009336,CH471058,X17360,BC016763,BC074797,X04706 NP_055436,EAX11086,CAA35237,AAH16763,AAH74797,CAA28411,P09016 Hs.591609 GDB:120677 HHO.C13|HOX-5.1|HOX4|HOX4B|Hox-4.2 homeo box d4 protein-coding 1351859 HOXD8 homeobox D8 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. 1580863 2568311,12477932,12357469,11857506,11060466,10364522,8100165,7913891,7501971,1973146,1358459,1351871 3234 NM_019558,AC009336,AY014303,CH471058,X15507,AL530925,BC038709,BC090853,BI764317,CR613626 NP_062458,AAG42152,EAX11089,CAA33529,AAH38709,AAH90853,P13378,Q5BL00,Q8IXZ1 Hs.301963 GDB:120680 HOX4|HOX4E|HOX5.4 protein-coding 1354432 HOXD9 homeobox D9 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. 1580863 1756725,17236141,15770739,12520199,12477932,12060849,11857506,11778160,11060466,10642795,10364522,9079695,8890171,7926763,7779685,2574852,2568311,1973146,1358459 3235 AC009336,CH471058,X15506,AI264311,BC044855,BF055327,NM_014213,X59372 NP_055028,EAX11090,CAA33528,AAH44855,CAA42016,P28356 Hs.236646 GDB:120678 HOX4|HOX4C|Hox-4.3|Hox-5.2 homeo box d9 protein-coding 1349678 HOXD@ homeo box D cluster 1973146,1358459 3230 GDB:120675 737269 HP haptoglobin This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. 1626355,1626365,1626394,1626335,1626340,1626361,1626378,1626350,1626353,1626356,1626362,1626381,1626348,1626351,1626344,1626352,1626363,1626370,1626374,1626375,1626391,1626341,1626346,1626366,1626337,1626342,1626349,1626354,1626360,1626367,1626339,1626343,1626345,1626347,1626376 16335952,16224193,16176058,16123372,16086594,16009149,15960705,15866595,15490286,15489334,15385675,15333469,15306193,15274115,15103512,15049697,15019547,14999562,14967153,14760718,14711515,14702039,14657203,14629808,14616769,14597045,12942785,12941748,12941730,18332093,18291005,18258668,18257091,18082523,18032779,17918239,17880628,17822661,17764509,17525367,17460152,17426810,17357835,17304451,17275123,17220636,17102136,17087019,17082477,16879055,16740002,16681422,16644889,16637741,16436647,16407342,7036344,14718574,12938813,12867276,12792358,12754519,12477932,12388365,6688992,6546723,6330675,6325933,6310599,6310515,4573324,4018023,3519135,3455911,2987228,2820712,2787245,1478675,12174790,12113290,12074569,12018475,11967116,11909563,11865982,11865981,11865979,11865978,11854028,11565553,11564959,11529861,11436564,11427216,11380078,11196644,10493829,9463309,8945641,8889549,7378053,6997877,12372461,12187922 1626355,1626365,1626394,1626335,1626340,1626361,1626378,1626350,1626353,1626356,1626362,1626381,1626348,1626351,1626344,1626352,1626363,1626370,1626374,1626375,1626391,1626341,1626346,1626366,1626337,1626342,1626349,1626354,1626360,1626367,1626339,1626343,1626345,1626347,1626376 3240 NM_001126102,AC004682,AC009087,CH471166,DQ314870,M10935,M69197,X00606,X01793,NM_005143,AK055872,AK314700,BC017862,BC058031,BC070299,BC107587,BC121124,BC121125,CB117006,CB134891,CR591153,CR592280,CR592814,CR593594,CR596989,CR597047,CR599000,CR601129,CR601475,CR601602,CR608843,CR611366,CR611613,CR611617,CR613780,CR615236,CR615568,CR616676,CR620944,CR622185,CR622621,CR622783,K00422,K01763,L29394,T71743,X00637 NP_005134,NP_001119574,AAC27432,EAW59194,EAW59195,EAW59196,EAW59197,ABC40729,AAA88080,AAA88078,CAA25248,CAA25926,BAF98793,AAH17862,AAH58031,AAH70299,AAI07588,AAI21125,AAI21126,AAA52687,AAA52684,AAA52685,CAA25267,P00738,Q0VAC5,Q6NSB4,Q6PEJ8 Hs.513711,Hs.708058 GDB:119314 BP|HP2-ALPHA-2|HPA1S|MGC111141 protein-coding 1606796 HP1BP3 heterochromatin protein 1, binding protein 3 14702039,12477932 50809 NM_016287,AL606477,AL663074,CH471134,AF113534,AK023129,AK025754,AK291252,AL833978,BC032139,BC045660,BC046170,BC053327,BE247224,BM312215,CK000759,CR599334,CR621795 NP_057371,CAI12528,CAI12529,CAI12530,CAI12531,CAI12532,CAI12533,CAQ10949,CAQ10950,CAQ10951,CAQ10952,CAQ10953,CAI23387,CAI23388,CAI23389,EAW94950,EAW94951,EAW94952,EAW94953,AAF14871,BAF83941,CAD38822,AAH32139,AAH45660,AAH46170,Q05BI0,Q5SSJ5,Q5SSJ6,Q5SWC6,Q5SWC8,Q8NDF0 Hs.142442 HP1-BP74|MGC43701|RP5-930J4.3 protein-coding 1353721 HPC1 hereditary prostate cancer 1 8910276,9497242 5513 AF172072 GDB:5215209 2293407,2293442 PRSTS277_H,PRSTS198_H 735421 HPCA hippocalcin The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. 728546 11964161,8387172,16053445,15489334,14638856,12477932,11836243,10899114,9931466,8360179,8166736,1280427,12445469 728546 3208 NM_002143,AB015202,AC114493,CH471059,BC001777,BT019750,BT019789,D16593 NP_002134,BAA74456,EAX07494,EAX07495,EAX07496,EAX07497,EAX07498,AAH01777,AAV38555,AAV38592,BAA04019,P84074,Q5U068 Hs.632391 GDB:361081 BDR2 protein-coding 1348150 HPCAL1 hippocalcin-like 1 The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. There are two alternatively spliced transcript variants of this gene, with multiple polyadenylation sites. 1580863 16713569,16703469,16381901,16189514,15834280,15489336,15489334,14739275,14694264,12477932,12445467,11964161,11173883,11076863,10851344,10683417,9110174,8619474,8387172,8038222 3241 NM_134421,AC007240,AC007249,CH471053,AF070616,AK000596,AK292280,BC009846,BC017028,BC017482,BT009835,CR541975,CR591594,CR593075,CR594189,CR599816,CR599915,NM_002149,CR605568,CR607303,CR613842,CR616250,CR623935,CR749837,D16227 NP_002140,NP_602293,AAY15033,EAX00960,EAX00961,EAX00962,EAX00963,EAX00964,EAX00965,EAX00966,AAC25387,BAF84969,AAH09846,AAH17028,AAH17482,AAP88837,CAG46773,CAH18693,BAA03754,O75544,P37235,Q68CP5,Q6FGY1,CAL37431,CAL37471,CAL37587,CAL37806,CAL38180,CAL38266 Hs.467696,Hs.580427 GDB:385142 BDR1|HLP2|VILIP-3 protein-coding 1348718 HPCAL4 hippocalcin like 4 The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. 10520747,11256614,16710414,16381901,16189514,15489336,15489334,12477932,11230166,11076863 51440 NM_016257,AL035404,CH471059,AB001105,AL136591,BC030827 NP_057341,CAI19574,EAX07257,EAX07258,BAA86892,CAB66526,AAH30827,Q0JSP9,Q9UM19,CAL37539,CAL38465,ABM83266,ABM86471 Hs.524688 GDB:11506137 DKFZp761G122|HLP4 protein-coding 1345191 HPCX hereditary prostate cancer, X-linked 9771711 9566 GDB:9864563 2293413 PRSTS210_H 731782 HPD 4-hydroxyphenylpyruvate dioxygenase 1580863,1300048 7851880,17560158,15489334,14702039,12477932,12107413,11073718,10942115,9325050,8521727,8504803 3242 NM_002150,AC079360,CH471054,D31628,U29895,AK057510,AK290826,BC014790,BC024287,CD675915,X72389 NP_002141,EAW98291,EAW98292,BAA06498,AAC73008,BAF83515,AAH24287,CAA51082,P32754,ABM83590,ABM87048 Hs.2899 GDB:135978 4-HPPD|4HPPD|GLOD3|PPD 4-hydroxyphenylpyruvic acid dioxygenase protein-coding 1606204 HPDL 4-hydroxyphenylpyruvate dioxygenase-like 16710414,15489334,12477932 84842 NM_032756,AL359540,CH471059,AI808699,BC007293,BQ069740,CR597681,CR602636,CR620904,CR622386 NP_116145,CAI21712,EAX07002,AAH07293,Q96IR7 Hs.162717 4-HPPD-L|GLOXD1|MGC15668|RP4-534D1.1 protein-coding 1351929 HPE1 holoprosencephaly 1, alobar 7485157 3244 GDB:136065 1345391 HPFH2 hereditary persistence of fetal hemoglobin, heterocellular, Indian type 3247 GDB:128071 736886 HPGD hydroxyprostaglandin dehydrogenase 15-(NAD) 1580863 2025296,10198228,15581601,7557451,15531523,15574495,18212353,17463062,16997128,16880406,16632868,15680906,15489334,15181076,14718596,12914529,12788907,12679466,12664592,12477932,12144871,11889207,11702189,10650939,9920098,9099873,9048936,8482380,8157731,2337593,1697582,1635910 3248 NM_000860,AC096751,AF177983,CH471056,AK058013,BC007691,BC018986,CR590250,CR594801,CR598443,CR600709,CR602985,CR603356,CR603849,CR604844,CR605509,CR606077,CR608377,CR618581,CR619023,J05594,L76465,U63296,X82460 NP_000851,AAF29493,EAX04734,EAX04735,EAX04736,EAX04737,AAH18986,AAA89174,AAA89175,AAB53034,CAA57843,O00749,P15428,Q06F08,Q12998,Q9NZQ5 Hs.655491 GDB:126731 15-PGDH|PGDH|PGDH1 nad-dependent 15-hydroxyprostaglandin dehydrogenase protein-coding 1352750 HPLH1 hemophagocytic lymphohistiocytosis 1 9915955 27259 732957 HPN hepsin (transmembrane protease, serine 1) Hepsin is a cell surface serine protease.[supplied by OMIM] 1580863 1885621,18487557,17309599,16908524,16783571,15792801,15583422,15489334,14702039,12962630,12629351,12477932,11171558,8346233,7814421,2835076 3249 NM_182983,NM_002151,AC020907,AK095160,BC025716,CR592189,CR597177,M18930,X07002,X07732 NP_892028,NP_002142,AAH25716,AAA36013,CAA30058,CAA30558,P05981,ABM83045,ABM86240 Hs.182385 GDB:135685 TMPRSS1 hepsin protein-coding 1343438 HPR haptoglobin-related protein 1580863 2987228,17845074,17360487,16778136,11814582,11752456,10493829,10085035,9461571,8945641,8889549,7716520,4018023,2876426,1478675 3250 NM_020995,AC004682,AC009087,CH471166,K03431,M10935,M13908,M69197,X01794,AV698541,BM547990,CB115435,CB147217,H93376,N55255,T71114 NP_066275,AAC27433,EAW59193,AAA88081,AAA52686,AAA88079,CAA25927,P00739,Q14552,AAI60066 Hs.655361 GDB:119316 A-259H10.2|HP protein-coding 731296 HPRT1 hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate (Keebaugh et al., 2007 [PubMed 16928426]).[supplied by OMIM] 1580863,1300048 10338013,9003484,8524221,8485579,7627191,7107641,6930669,6853716,6853490,6706936,6572373,6343377,6309910,6204922,6087154,3921964,3909940,3527873,3384338,3358423,3320967,3265398,3198771,3148064,3023844,3008106,2928313,6300847,9521733,10360366,17353931,8044844,16138897,9824441,8643611,18288319,17700363,17697207,17628775,17454734,17027311,16951156,16928426,16458330,16355393,16240158,16216473,16189514,15990111,15987524,15862284,15862283,15779006,15601998,15571224,15571223,15571222,15571220,15491638,15489334,15277709,15204312,15178494,15146465,14767555,12874812,12616531,12477932,12376523,12175903,11891689,11714443,2910902,2909537,2896620,2835825,2760209,2738157,2358296,2347587,2341149,2246854,2071157,2018042,1937471,1840476,1551676,1487231,1301916,14499622,11668636,11591653,11434773,11219770 3251 AC004383,AY780550,CH471107,M12452,M26434,S79313,BC000578,BT019350,CR407645,CR614617,L29382,L29383,M24772,M31642,S60300,NM_000194 NP_000185,AAV31777,EAX11760,EAX11761,AAA52691,AAA36012,AAB21289,AAH00578,AAV38157,CAG28573,AAB59392,AAB59391,AAA52690,AAC60591,P00492,Q6LET3,ABM86033,ABM86035,ABW03767,ABW03456 Hs.412707 GDB:119317 HGPRT|HPRT hypoxanthine guanine phosphoribosyl transferase protein-coding 1343384 HPRT2 hypoxanthine phosphoribosyltransferase 2 3252 GDB:696377 1347588 HPRTP1 hypoxanthine phosphoribosyltransferase pseudogene 1 87146452,6089358 3253 GDB:119318 1351283 HPRTP2 hypoxanthine phosphoribosyltransferase pseudogene 2 6089358,1675192 3254 NG_003031,AC114300 GDB:119319 pseudo 1342808 HPRTP3 hypoxanthine phosphoribosyltransferase pseudogene 3 3255 NG_007296,AP002795 GDB:119320 pseudo 1345593 HPRTP4 hypoxanthine phosphoribosyltransferase pseudogene 4 3256 NG_007297,AP002795 GDB:119321 pseudo 1605436 HPS1 Hermansky-Pudlak syndrome 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. 1625056 12663659,10625677,11836498,8896559,18463683,17365864,16431308,16417222,16020891,12847290,12756248,12477932,12442288,12125811,10971344,10798370,9579545,9497254,9182823,8541858,7573033 1625056 3257 NM_000195,NM_182639,AF450133,AL139243,CH471066,U79136,AL702912,AL833734,BC000175,BC002514,BC127087,BI518436,BQ100915,CR592714,CR593063,CR593191,CR596924,CR598347,CR600212,CR609635,CR620028,CR625584,U65676,U96721 NP_000186,NP_872577,AAL50684,CAI14150,CAI14151,CAI14152,CAI14153,EAW49877,EAW49878,EAW49879,EAW49880,EAW49881,EAW49882,EAW49883,AAB70662,CAH56230,AAH00175,AAB17869,AAC52074,Q5TAA3,Q5TAA8,Q658M9,Q8WXE5,Q92902,AAI66631 Hs.404568 GDB:127359 HPS|MGC5277 protein-coding 1321513 HPS3 Hermansky-Pudlak syndrome 3 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined. 1599538 17365864,16159387,15632015,15489334,15030569,14702039,12847290,12477932,12125811,11707070,11590544,11455388,9497254 1599538 84343 NM_032383,AC021059,AC131209,AF375663,CH471052,AK026357,AK055245,AK056575,AL832735,AL833878,AY033141,BC016901,BC022062,BC040359,BG618578,CR600710,CR622327 NP_115759,AAK84131,EAW78885,EAW78886,EAW78887,EAW78888,BAB15459,BAB71221,CAD38735,AAK53457,AAH16901,AAH22062,AAH40359,Q8N3N1,Q969F9,ABM82104,ABM85286 Hs.591311 GDB:11498533 DKFZp686F0413|FLJ22704|SUTAL protein-coding 1317629 HPS4 Hermansky-Pudlak syndrome 4 Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Multiple transcript variants encoding different isoforms have been found for this gene. 1599546,1580863 12663659,11836498,12756248,18463683,17365864,16431308,15489334,15461802,14702039,12847290,12664304,12529303,12477932,11258795,10591208,8889548 1599546 89781 NM_022081,NM_152841,CH471095,Z99714,AB051454,AK054717,AK057648,AK095406,AK097529,AK097886,AK123691,AK290211,AL365512,AL713795,AY043416,BC028625,BC035614,BC050285,BC065030,BM975247,CR456392,CR601317 NP_071364,NP_690054,EAW59717,EAW59718,EAW59719,EAW59720,CAI17880,BAB33337,BAB71540,BAF82900,CAB97208,CAD28549,AAK95330,AAH65030,CAG30278,Q6ICH6,Q6P1K3,Q9NQG7,CAK54398,CAK54697 Hs.474436 GDB:11504423 KIAA1667|LE|bK1048E9.4|bK1048E9.5 protein-coding 1323623 HPS5 Hermansky-Pudlak syndrome 5 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. 17365864,17301833,15489334,15296495,15030569,14702039,12548288,12477932,12168954,10231032,10094488 11234 NM_007216,NM_181507,NM_181508,AC084117,AC107948,CH471064,AA886415,AB023234,AF534400,AF534401,AF534402,AJ131721,AK024320,AK291663,AK292436,BC033640,CR626720 NP_009147,NP_852608,NP_852609,EAW68402,EAW68403,EAW68404,EAW68405,EAW68406,EAW68407,BAA76861,AAO25962,AAO25963,AAO25964,CAB38232,BAF84352,BAF85125,AAH33640,Q9UPZ3 Hs.437599 GDB:11508893 AIBP63|KIAA1017 protein-coding 1347712 HPS6 Hermansky-Pudlak syndrome 6 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. 632833 15489334,15030569,14702039,12548288,12477932 632833 79803 NM_024747,AL500527,CH471066,AF536238,AK026154,BC009258,BC011594,BC014993,BC064917 NP_079023,EAW49726,CAH72214,EAW49725,AAO25965,BAB15378,AAH11594,AAH14993,Q5VV69,Q86YV9 Hs.125133 FLJ22501|MGC20522|RP11-302K17.1 protein-coding 736250 HPSE heparanase 15760902,15737842,15728796,15682491,15659389,15645118,15625607,15610235,15489334,15471949,15368349,15334672,15292202,15144715,15109255,15100255,15040016,15034597,14989983,14967027,14769819,14676122,15848168,14633698,10395325,10446189,18305555,18288398,18217145,18167611,18064313,17989358,17634531,17611567,17524042,17519955,17481627,17467664,17437011,17419711,17339423,17284253,17261577,17217623,17208203,17141400,17095861,17051139,16982797,16890383,16867222,16855356,16826429,16790442,16709798,16514606,16429446,16391819,16303743,16288472,16263699,16217746,16112651,16097072,16093249,16007175,15983219,12927802,12904690,12837765,12824922,12746471,12713442,12679316,12509917,12477932,12441129,14573609,14522979,12219030,12213822,12097647,12065771,12029075,12027584,11973358,11798780,11779847,11759110,11547900,11406531,11351242,11123890,10940554,10764835,10405343,10395326,9668050,9373149,8125298,15264223 10855 NM_001098540,NM_006665,AC114781,CH471057,CQ840768,CQ840860,AF084467,AF144325,AF152376,AF155510,AF165154,AK075400,AK222986,AM419200,AY948074,BC029464,BC051321,CR604689,CR610536 NP_001092010,NP_006656,EAX05932,EAX05933,CAH05691,CAH05695,AAD54516,AAD41342,AAD45669,AAD54941,AAD45379,BAD96706,CAL91960,AAX47106,AAH51321,Q9Y251 Hs.44227 GDB:9958409 HPA|HPR1|HPSE1|HSE1 protein-coding 1317455 HPSE2 heparanase 2 1580863 11027606,16879396,15837740,15709168,15475937,15164054,14702039,12477932 60495 Q8WWQ2,Q2M1H9 NM_021828,AL139243,AL356220,AL356268,AL360075,AL365210,AL391260,AL445251,AL590036,CH471066,AF282885,AF282886,AF282887,AJ299719,AJ299720,AK094037,BC112356 NP_068600,CAI14146,CAI14147,CAI14148,CAI17160,CAI17161,CAI17162,CAH70448,CAH70449,CAH70450,CAI16472,CAI16473,CAI16474,CAH73137,CAH73138,CAH73139,EAW49872,EAW49873,EAW49874,AAG23421,AAG23422,AAG23423,CAC82491,CAC82492,AAI12357,Q2M1H9,Q8WWQ2 Hs.500750 GDB:11510064 HPA2|HPR2|MGC133234 protein-coding 1348163 HPT hypoparathyroidism 3258 GDB:119322 1350321 HPV18I1 human papilloma virus (type 18) integration site 1 3028716 3260 GDB:128273 1347895 HPV18I2 human papillomavirus (type 18) integration site 2 3033295 3261 GDB:128288 1347100 HPV6AI1 human papillomavirus (type 6a) integration site 1 8118820 3259 X77607 GDB:321942 miscrna 1354452 HPVC1 human papillomavirus (type 18) E5 central sequence-like 1 7581372 3262 NR_004422,X85042 GDB:637787 HPV18E5L|PE5L miscrna 737150 HPX hemopexin 1580863 3855550,14718574,18044975,17636883,17229156,17185359,16740002,16335952,16199891,16079987,16014037,15697213,15697212,15558018,15084671,14760718,12675843,12477932,11779859,10981817,10737728,10443938,8855948,8647924,8612795,8474687,8463269,6510521,6371807,3372522,3220477,3036819,2989777,2842511,2833500,2735186,620056 3263 NM_000613,AC084337,CH471064,CS185535,M36796,M36798,M36799,M36800,M36801,M36802,M36803,BC005395,CR595529,CR597029,CR601115,CR611907,CR614628,CR617142,CR617755,J03048,X02537 NP_000604,EAW68718,EAW68719,EAW68720,EAW68721,CAJ42716,AAA58678,AAH05395,AAA52704,CAA26382,P02790,Q9BS19 Hs.426485 GDB:120054 protein-coding 1350210 HPYR1 Helicobacter pylori responsive 1 11598072 93668 AF200341 Hs.545218 GDB:11508825 HPRG1 protein-coding 1344984 HR hairless homolog (mouse) This gene encodes a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor for thyroid hormone and interacts with histone deacetylases. Mutations in this gene have been documented in cases of autosomal recessive congenital alopecia and atrichia with papular lesions. Two transcript variants encoding different isoforms have been found for this gene. 1599575,1599576,1580863 9445480,18164595,17958788,17869066,17609203,17372750,16269453,15489334,14702039,12873232,12477932,12406339,12271294,11966690,11748221,11641275,11410842,10469319,10205263,10051399,9758627,9736769,9463324,8357006 1599575,1599576 55806 AK098053,AL833253,AW291630,BC008946,BC067128,NM_018411,NM_005144,AC105206,CH471080,AF039196,AJ277165 AAH67128,O43593,NP_060881,NP_005135,EAW63716,EAW63717,EAW63718,AAC32258,CAB86602 Hs.272367 GDB:595499 ALUNC|AU|HSA277165 protein-coding 730881 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Two transcript variants, which encode different isoforms, have been identified for this gene. 1358733,1580863 16532025,16531227,16518851,16518842,16488657,16436381,16434492,16384911,16356174,16329078,16286246,16268778,16268414,16264231,16569214,16552541,16187291,16174078,16170316,16170018,16081426,16007212,16005186,16000296,15980150,15963850,15950068,15940260,15855817,15831492,15816642,15784896,15761501,15757891,15721486,15705808,15702478,15697248,15684418,15677464,15638373,15597105,15528212,15496409,15489334,15320975,15211515,15202051,15187129,15098441,15031297,15031288,14767509,14737103,14729607,18077377,18048363,18042262,18039947,18021740,17979197,17974970,17943694,17912430,17767136,17712732,17699159,18284919,18176964,17638918,17635919,17601930,17518771,17488404,17428306,17412879,17388810,17324647,17264303,17255356,17237388,17230191,17210246,17196792,17164262,17096025,17094109,17056636,17018607,16969868,16945398,16923573,16890591,16881968,16857742,16849642,16831126,16806262,16774944,16761621,16760302,16738062,16717102,16645632,16644864,16598313,16598312,16573741,9219684,11520933,9020890,10848592,10842192,7972015,8493579,9069260,9690470,9880516,18454158,18383861,18355852,18325324,18310288,14724641,14693748,14688016,14662018,14576295,14500341,12970366,12915131,12878090,12874025,12867418,12838617,12750467,12748287,12740440,12732644,12727991,12717016,12695509,12668284,12628188,12620389,12589428,12569357,12540507,12477932,12379659,12135390,12134164,12115522,12034322,11980706,11977185,11948427,11934900,11920220,11904419,11880369,11788888,11739523,11709720,11695563,11695562,11560935,11525649,11487538,11352655,11335720,11303621,11257115,11156605,11136978,11097227,11022048,10998413,10989457,10922060,10891505,10862698,10848576,10783161,10677502,10574788,10545207,10514505,10504264,10490827,10485711,10369681,10212255,9699522,9674433,9582122,9525745,9488663,9235916,9150145,9144171,9113989,9099670,9038168,11744690,8939933,8911690,8753867,8663024,8628317,8626715,8621645,8607982,8554611,8530446,8280380,8142349,8137421,8035810,7969158,7916576,7862125,7744247,7730360,7706312,7628625,7177195,6866079,6844927,6616621,6587382,6312329,6308640,6298635,6290897,6098458,6087347,6086315,3932274,3856237,3670300,3476115,3295562,3276402,3131765,3109943,3102434,3088563,3034404,3011420,2999610,2998510,2991860,2833817,2661017,2654810,2476675,2448879,2217184,2196171,2121270,1970154,1924354,1899707,1549493,1459726,9344703,9269777,16436505,11958689,10748182,14724584,14654780,9154803,15469846,15664191,9516482,8637706,7689150,11585923,8307946,7523381 1358733 3265 NM_005343,NM_176795,NG_007666,AC137894,AF375987,CH471158,EF015887,J00277,K00654,M17232,M19990,M25876,M30539,X01227,X16438,AF493916,AJ437024,BC006499,BC095471,BM801632,BT019421,CR536579,CR542271 NP_005334,NP_789765,AAK56963,EAX02337,EAX02338,EAX02339,EAX02340,EAX02341,ABI97389,AAB02605,AAA35687,AAA35685,AAA52693,AAA35683,AAA36557,CAA25624,CAA34461,AAM12630,CAD24594,AAH06499,AAH95471,AAV38228,CAG38816,CAG47067,P01112,P78460,Q14007,Q92468,Q96T27,Q9BR65,Q9UCE2 Hs.37003 GDB:120684 C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|K-RAS|N-RAS|RASH1 protein-coding 1319850 HRASLS HRAS-like suppressor 11474175,10542256,9771974,12477932 57110 NM_020386,AC092966,AC105057,CH471052,AB030816,AY251533,BC048095,BX098792 NP_065119,EAW78078,EAW78079,BAB08110,AAP20056,AAH48095,Q6X7C0,Q86WS9,Q9HDD0 Hs.36761 GDB:11499109 A-C1|H-REV107|HRASLS1|HSD28 protein-coding 1344464 HRASLS2 HRAS-like suppressor 2 14702039 54979 NM_017878,AP001591,CH471076,AK000563 NP_060348,EAW74157,BAA91256,Q9NWW9,AAI52863 Hs.272805 GDB:11506139 FLJ20556 protein-coding 737532 HRASLS3 HRAS-like suppressor 3 1580863,2290002,2290001 9771974,17374643,17003497,16713569,16189514,15489334,12477932,12054741,11973642,11526504,10508479 2290002,2290001 11145 NM_007069,AP000753,AP001591,CH471076,AB030814,AF317086,BC001387,BC103807,BC103808,X92814 NP_009000,EAW74158,EAW74159,EAW74160,BAB08108,AAL26892,AAH01387,AAI03808,AAI03809,CAA63423,P53816,Q3MI98,ABM83494,ABM86709 Hs.502775 GDB:9956941 H-REV107-1|HREV107|HREV107-3|MGC118754 hras like suppressor protein-coding 1606473 HRASLS5 HRAS-like suppressor family, member 5 17158102,14702039,12477932 117245 NM_054108,AP000484,AP001591,CH471076,AJ416558,AK055392,BC034222 NP_473449,EAW74149,EAW74150,CAC94942,AAH34222,Q8NE88,Q96KN8 Hs.410316 HRLP5|RLP-1|RLP1 protein-coding 1321481 HRB HIV-1 Rev binding protein The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. This encoded protein binds the Rev activation domain when Rev is assembled onto its RNA target and can significantly enhance Rev activity when overexpressed. 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. 1580863 7634337,11545741,7637788,17638906,17081983,16903783,15815621,15749819,15489334,14702039,14701878,14554087,12477932,12429849,10737800,10613896,10358091,9500467,9368759,9303539,9070945,8943370,8805303,8633082,16354571,11854271 3267 NM_004504,AC097662,AC105286,CH471063,L42025,AA676544,AI742626,AI955214,AK097451,BC030592,BC096272,BC096273,BC096274,BC096275,BE843894,BM474292,CB990608,CR607049,CR622898,X89478 NP_004495,AAY24254,AAX93270,EAW70871,EAW70872,AAC37580,AAH30592,AAH96272,AAH96273,AAH96274,AAH96275,CAA61667,P52594 Hs.591619 GDB:4642819 MGC116938|MGC116940|RAB|RIP protein-coding 1315293 HRBL HIV-1 Rev binding protein-like 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 variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863 15489334,14702039,12690205,12477932,10613896,9799793,9303539,8889548,7568168 3268 NM_006076,AC069281,AF053356,CH236956,CH471091,AF015042,AK057758,AK090744,BC009393,BC017329,BC047227,BF314987,BU608908,CR597239,CR611659,CR626460 NP_006067,AAC78803,EAL23829,EAW76522,EAW76523,EAW76524,EAW76525,AAD01550,AAH09393,AAH17329,O95081 Hs.521083 GDB:9848729 RABR protein-coding 1343095 HRC histidine rich calcium binding protein Histidine-rich calcium-binding protein is a luminal sarcoplasmic reticulum protein of 165 kD identified by its ability to bind low-density lipoprotein with high affinity 1580863 15191886,15082771,12543931,12488461,12480542,12477932,11741309,11504710,10462052,2498310,2037293,17526652,15489334 3270 AC008891,NM_002152,CH471177,BC069795,BC069802,BC094691,BC112355,M60052 NP_002143,EAW52458,EAW52459,AAH69795,AAH69802,AAH94691,AAI12356,AAA88071,P23327,Q2M1I0,Q6ZP78 Hs.436885 GDB:126369 MGC133236 protein-coding 1346832 HRD hypoparathyroidism, growth and mental retardation, and dysmorphism 9634513 3271 GDB:9862254 1348901 HRES1 HTLV-1 related endogenous sequence 1783388 3272 NM_001007238,X16660 GDB:127784 736906 HRG histidine-rich glycoprotein This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. 1599656,1580863 6414553,14718574,17229145,16436387,16335952,16107330,15489334,15269838,15220341,15138272,12764609,12477932,12391183,10514432,10421785,10050040,9414276,9276466,9184145,8478593,8478589,8348977,8188234,6438154,4116337,3958188,3819648,3011081,2566603,2524479,2347592,1678514,1561009,1459097 1599656 3273 NM_000412,AB005803,AC109780,CH471052,Z17218,AI800281,BC069574,CR749302,M13149 NP_000403,BAA21613,EAW78183,EAW78184,CAA78925,AAH69574,CAH18157,AAA52694,P04196,Q68DR3 Hs.1498 GDB:120055 DKFZp779H1622|HPRG|HRGP protein-coding 736085 HRH1 histamine receptor H1 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. This gene was thought to be intronless until recently. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 10818238,8280179,7925364,18366640,17637176,17627982,17547532,17517105,17243823,17122961,16888049,16760260,16705383,16547808,16491014,16484687,16408006,16344560,16027157,15953854,15928843,15928828,15820830,15542600,15342556,15328002,12757445,12755404,12680587,12477932,12429384,12218662,11994709,11898002,11603849,10973974,10569698,9794809,9311023,8666296,8590995,8045566,8003029,2891264,2886904,2670975 3269 AK289412,AK292157,AY136743,BC060802,BM905371,BP366267,D28481,DA372691,DB073635,DC300229,Z34897,NM_001098212,NM_001098211,NM_000861,AB041380,AC083855,AF420434,AJ000742,CH471055,D14436,U37761,X76786,AF026261,NM_001098213 BAF82101,BAF84846,AAN01269,AAH60802,BAA05840,CAA84380,P35367,Q6P9E5,NP_001091683,NP_001091682,NP_001091681,NP_000852,BAA94465,CAA04289,EAW64092,BAA03319,AAD14833,CAA54182,AAB95156 Hs.1570 GDB:303929 H1-R|hisH1 histamine receptor h 1 protein-coding 735725 HRH2 histamine receptor H2 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. 1580863 9725260,1714721,17627982,17347323,16888049,16203768,15961859,15953854,15928843,15848191,15820830,15191551,15167968,15086532,14523557,12824943,12757445,12680587,12477932,12429384,11898002,11728449,11641433,11603849,11466390,10837353,10371214,9374694,9311023,8817552,7794271,7755641,7575521,7511596 3274 NM_022304,AB023486,AB041384,AC010219,CH471062,D49783,M64799,X98133,AB023487,AY136744,BC054510 NP_071640,BAA84279,BAA94469,EAW61369,BAA08618,AAA58647,CAA66832,AAN01270,AAH54510,P25021,Q7Z5R9 Hs.247885 GDB:391259 H2R histamine receptor h 2 protein-coding 732356 HRH3 histamine receptor H3 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H3 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and can regulate neurotransmitter release. This receptor can also increase voltage-dependent calcium current in smooth muscles and innervates the blood vessels and the heart in cardiovascular system. 1580863,1626428,1626432,1626433,1626431,1626405,1626416,1626418,1626421,1626426,1626408,1626409,1626425 10347254,17627982,17561422,16565470,15665857,15489334,15191551,12971961,12477932,12069903,11956964,11780052,11752397,11284713,11118334,10637648,9670104,9311023 1626428,1626432,1626433,1626431,1626405,1626416,1626418,1626421,1626426,1626408,1626409,1626425 11255 NM_007232,AJ278250,AJ296652,AL078633,CH471077,AB019000,AB045369,AF140538,AF321910,AF321911,AF321912,AF321913,AF346903,AF346904,AF363791,AK074730,BC096840 NP_009163,CAC39434,CAC51025,CAC04014,EAW75381,EAW75382,EAW75383,EAW75384,EAW75385,BAB17030,BAB20090,AAD38151,AAL71911,AAL71912,AAL71913,AAL71914,AAM43828,AAM43829,BAC11167,AAH96840,Q548M6,Q8NCH4,Q8NI49,Q8NI50,Q8WXZ9,Q8WY00,Q8WY01,Q9Y5N1,AAK50040 Hs.251399 GDB:9957568 GPCR97|HH3R protein-coding 735405 HRH4 histamine receptor H4 Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H4 belongs to the family 1 of G protein-coupled receptors and has the highest homology to histamine receptor H3 among known G protein-coupled receptors. 1580863 10973974,11118334,17978505,17806182,17806168,17681365,17627982,17507084,16547812,16547802,16203768,15489334,15265943,15191551,12477932,11394877,11181941,11179436,11179435,11179434 59340 NM_021624,AC007922,CH471088,EF444982,AB044934,AB045370,AF307973,AF312230,AF325356,AF329449,AJ298292,AY008280,AY136745,BC069136,BC112348 NP_067637,EAX01189,ACA05997,BAB13698,BAB20091,AAG32052,AAK12081,AAL01684,AAK43542,CAC83493,AAL09297,AAN01271,AAH69136,AAI12349,Q96LD9,Q9H3N8 Hs.287388 AXOR35|BG26|GPCR105|GPRv53|H4|H4R|HH4R|MGC133027 histamine h4 receptor protein-coding 731025 HRK harakiri, BCL2 interacting protein (contains only BH3 domain) Activator of apoptosis Hrk regulates apoptosis through interaction with death-repressor proteins Bcl-2 and Bcl-X(L). The HRK protein lacks significant homology to other BCL2 family members except for an 8-amino acid region that was similar to the BCL2 homology domain-3 (BH3) motif of BIK. HRK interacts with BCL2 and BCLXL via the BH3 domain, but not with the death-promoting BCL2-related proteins BAX, BAK, or BCLXS. HRK localizes to membranes of intracellular organelles in a pattern similar to that previously reported for BCL2 and BCLXL. 1580863 15694340,16697956,9130713,18037991,18008329,15031724,14695142,14596824,12606589,12477932,12217801,11796190,11483855,11331593,11076863,10075695,15721256 8739 NM_003806,CH471054,U76376,AC083806 NP_003797,EAW98093,AAC34931,O00198,AAI11924 Hs.87247 GDB:9956785 DP5|HARAKIRI protein-coding 1349514 HRMT1L5 HMT1 hnRNP methyltransferase-like 5 (S. cerevisiae) 415048 1603898 HRNBP3 hexaribonucleotide binding protein 3 16260614,14702039,12477932,8889548 146713 NM_001025448,NM_001082575,AC020689,AC021534,AC055858,AK054893,AK124644,AK128131,BC093713,BM714144,BU741507,BX452143,DN990270 NP_001020619,NP_001076044,AAH93713,Q4G0H5 Hs.135229 FOX3 hypothetical protein loc146713 protein-coding 1603472 HRNR hornerin 17353931,16710414,15507446 388697 AL589986,AB104446,AB180729,AY396741,BR000036,NM_001009931,XM_001726971 CAH70026,BAC57496,BAD67177,AAR91619,FAA00004,Q5DT20,Q5U1F4,Q5W8V9,Q86YZ3,NP_001009931,XP_001727023 Hs.490162 S100A16|S100a18 protein-coding 1351385 HRPT1 hyperparathyroidism 1 3278 GDB:125252 1343199 HRSP12 heat-responsive protein 12 1580863 8530410,16198412,15489334,14997576,12477932,10961346,10400702,9767104,9463573,9405234,8973653,16189514 10247 NM_005836,AP003439,AY026764,CH471060,CS185579,BC010280,BC012592,BC093059,BX348173,CR456844,CR541652,CR619148,D62115,X95384 NP_005827,AAK01939,EAW91774,EAW91775,CAJ42760,AAH10280,AAH12592,AAH93059,CAG33125,CAG46453,CAA64670,P52758,Q6IBG0,ABM83723,ABM87043 Hs.18426 P14.5|PSP|UK114 protein-coding 1602467 HS1BP3 HCLS1 binding protein 3 The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. 16116142,15699368,14702039,12477932,10590261,8889549 64342 NM_022460,AC012065,CH471053,AK024311,AK123411,BC027947,BC038847,BC050636,BC057389,BG753647,BX354596,CR596701,N62141 NP_071905,AAX93235,EAX00812,EAX00813,EAX00814,EAX00815,EAX00816,EAX00817,BAB14878,AAH27947,AAH50636,AAH57389,Q53T59,Q9H7U7 Hs.531785 ETM2|FLJ14249|HS1-BP3 protein-coding 1313348 HS2ST1 heparan sulfate 2-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes heparan sulfate 2-O-sulfotransferase, a member of the heparan sulfate biosynthetic enzyme family. This family member transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. 17227754,16710414,15489334,15317737,14702039,12477932,10731680,10677367,9455484 9653 CH471097,AB007917,AB024568,AF086247,AK023260,BC025384,BC025990,BC108735,NM_012262,AC093155,AL121989 CAC04187,EAW73170,EAW73171,EAW73172,EAW73173,BAA32293,BAA89250,AAH25384,AAH25990,AAI08736,Q32NB5,Q7LGA3,NP_036394 Hs.48823 GDB:9957891 FLJ11317|KIAA0448|MGC131986|dJ604K5.2 protein-coding 731446 HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. 1580863 9346953,9988767,15489334,15096036,14702039,12477932,11006120,9988768,8900198,7744762 9957 NM_005114,AC006230,CH471069,BM547276,AA825270,AF019386,AI478981,AK096823,BC025735,BC057803 NP_005105,EAW92699,EAW92700,AAH57803,O14792,Q05CH3,EAW92701,EAW92702,AAB84388,AAH25735 Hs.507348,Hs.605349 GDB:9958522 3OST|3OST1 protein-coding 1346040 HS3ST2 heparan sulfate (glucosamine) 3-O-sulfotransferase 2 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. 1580863 9988767,16336986,15489334,12975309,12527896,12477932,9988768,7744762 9956 NM_006043,AC027102,AC130450,AC130466,CH471145,AB209794,AF105374,AF105375,AY359095,BC093734,BC093736,CR620513 NP_006034,EAW55840,BAD93031,AAD30206,AAD30207,AAQ89453,AAH93734,AAH93736,Q59EL7,Q9Y278 Hs.115830,Hs.622536 GDB:9958520 30ST2|3OST2 protein-coding 1322170 HS3ST3A1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. 1580863 9988767,15489334,15304505,12975309,12477932,12384783,10608887,10520990,9988768,7744762 9955 NM_006042,AC005375,AC005411,CH471108,AF105376,AY358838,BC044647 NP_006033,EAW89959,AAD30208,AAQ89197,AAH44647,Q9Y663 Hs.462270 GDB:9958518 30ST3A1|3OST3A1 protein-coding 1354172 HS3ST3A2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3A2 9988767 9954 GDB:9958517 1316454 HS3ST3B1 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. The sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1, and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta. 1580863 9988767,15489334,15304505,14702039,12477932,12384783,10520990,9988768,7744762 9953 NM_006041,AC005224,CH471108,AF105377,AK023723,BC063301,BC069664,BC069725 NP_006032,EAW89953,EAW89954,AAD30209,AAH63301,AAH69664,AAH69725,Q9Y662 Hs.48384 GDB:9958515 30ST3B1|3OST3B1 protein-coding 1350015 HS3ST3B2 heparan sulfate (glucosamine) 3-O-sulfotransferase 3B2 9988767 9952 GDB:9958514 1352921 HS3ST4 heparan sulfate (glucosamine) 3-O-sulfotransferase 4 This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. 9988767,17482450,16259945,12080045 9951 AC092141,AC093509,AC093511,AC093516,AC093524,AY476736,CH471145,AF105378,AL834283,EF063601,EF063602,EF063603,EF063604,EF063605,EF063606,EF063607,EF063608,XM_001132212,NM_006040,NG_005591 AAS58324,EAW55764,AAD30210,CAD38957,ABN79912,ABN79913,ABN79914,ABN79915,ABN79916,ABN79917,ABN79918,ABN79919,Q9Y661,XP_001132212,NP_006031 Hs.655275 GDB:9958512 30ST4|3OST4 protein-coding 1314962 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM] 1580863 12138164,16099108,15489334,15026143,14702039,12740361,12477932 222537 NM_153612,AL355498,CH471051,AF503292,AK091074,AK126930,AK289907,BC093911,BC093913 NP_705840,EAW48251,AAN37737,BAC03577,BAF82596,AAH93911,AAH93913,Q8IZT8 Hs.645477 GDB:11506141 3-OST-5|3OST5|HS3OST5 protein-coding 1344226 HS3ST6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 1580863 15616553,15303968,12907690,12740361,12138164,11157797 64711 NM_001009606,AE006640,AL031723,CH471112 NP_001009606,AAK61299,CAC42157,EAW85602,EAW85603,Q96QI5,AAI56439 Hs.670144 HS3ST5 protein-coding 1319437 HS6ST1 heparan sulfate 6-O-sulfotransferase 1 The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. 1580863 9535912,15815621,15489334,15342556,12492399,12477932 9394 NM_004807,AC017079,CH471103,AB006179,AK058121,AL831893,BC001196,BC019025,BC047087,BC063521,BC096239,BC096240,BC099638,BC099639,BP219645,CV569969,DR005030 NP_004798,AAY14736,EAW95357,EAW95358,EAW95359,BAA25760,AAH01196,AAH96239,AAH96240,AAH99638,AAH99639,O60243 Hs.512841 GDB:9956192 DKFZp547H098|FLJ25392|HS6ST|MGC116899|MGC116901 protein-coding 1346869 HS6ST1P heparan sulfate 6-O-sulfotransferase 1 pseudogene 388605 NG_005670,AL592309 pseudo 1605906 HS6ST2 heparan sulfate 6-O-sulfotransferase 2 Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. 16303743,15772651,15489334,14702039,12492399,12477932,10644753 90161 NM_001077188,AL022159,AL022309,Z81365,Z86064,AB067776,AB067777,AI253113,AK027720,AK056706,AK075402,AL049679,AL831923,BC037325,BC094718,BC110620,BC110621,NM_147175 NP_671704,NP_001070656,CAI43182,CAI43183,BAC07183,BAC07184,BAB55322,BAB71260,BAC11597,CAB41248,CAD38583,AAH37325,AAH94718,AAI10621,AAI10622,Q96MM7,Q9Y3P2 Hs.385956 GDB:11509664 MGC130022|MGC130023 protein-coding 1314189 HS6ST3 heparan sulfate 6-O-sulfotransferase 3 Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM] 1580863 15226404,15057823,14702039,12477932,11991713,10644753 266722 NM_153456,AL138816,AL139087,AL158192,AL159979,AL160253,AL353581,AL356098,CH471085,AF339796,AF339824,AF539426,AK091343,AK124236,AK126947,BC037795,CR749677 NP_703157,CAI13709,EAX08963,AAN33062,BAC03640,CAH18468,Q8IZP7,AAI56338,AAI57126 Hs.171001 GDB:11510784 DKFZp761K2315 protein-coding 736685 HSBP1 heat shock factor binding protein 1 The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. 1580863 9649501,16303743,16189514,15489334,12477932,11679589,9493008 3281 AC009119,CH471114,AF068754,AK026575,AK172732,AY320409,BC007515,BX366956,BX537440,BX648972,CR590813,CR592902,CR603985,CR605356,CR606398,CR608180,NM_001537,CR623333,CR626052,CR626207,CR613945,CR617031,CR617568 NP_001528,EAW95514,AAC25186,AAP73809,AAH07515,CAD97682,O75506,Q53XA8 Hs.250899,Hs.705549 GDB:9862994 DKFZp686D1664|DKFZp686O24200|NPC-A-13 protein-coding 1348838 HSBP1P1 heat shock factor binding protein 1 pseudogene 1 326296 NG_002548,AL139021 pseudo 1602295 HSCB HscB iron-sulfur cluster co-chaperone homolog (E. coli) 10591208,12938016,16952052,15489334,15461802,12477932 150274 CH471095,AY191719,BC065569,CR456462,NM_172002,AL023494,AL117330 EAW59758,EAW59759,EAW59760,AAN85282,AAH65569,CAG30348,Q8IWL3,NP_741999,CAI20339,CAH73876 Hs.632780 DNAJC20|HSC20|JAC1|MGC2637|MGC74462|dJ366L4.2 protein-coding 737091 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Two transcript variants encoding the same protein have been found for this gene. 1300048,1625067,1625071,1625075,1331525 15536220,11956655,11755176,11114699,10962348,10645953,10497258,10497248,9543163,9034789,7670488,7545619,11304470,3034894,9555943,15513927,15489334,15466942,15455200,15452033,15280030,15181046,15172126,15167446,15156315,15152005,15095019,14742837,14682470,14583441,14557491,12960005,12915696,12915682,12861241,12858176,12788882,12530692,12530648,12477932,12414862,12390875,12202416,12109593,15583024,18261751,17922306,17912154,17825335,17766714,17588937,17519316,1885595,17495191,17467270,17306259,17062770,17032748,16996097,16914598,16855188,16710414,16622297,16603347,16580270,16551740,16469798,16412558,16406280,16368752,16343739,16236446,16091483,15941907,15855321,15827106,15591536 1625067,1625071,1625075,1331525 3290 NM_181755,NM_005525,AL022398,AL031316,AY044084,CH471100,M76661,M76662,M76663,M76664,M76665,BC012593,BG619051,BM994393,CR594617,CR603384,CR609467,CR618163,CR622047 NP_861420,NP_005516,CAA18541,CAI20063,AAK83653,EAW93445,EAW93446,AAC31757,AAH12593,P28845,ABM83838,ABW03522 Hs.195040 GDB:128737 11-DH|11-beta-HSD1|HDL|HSD11|HSD11B|HSD11L|MGC13539 hydroxysteroid 11-beta dehydrogenase 1 protein-coding 1605800 HSD11B1L hydroxysteroid (11-beta) dehydrogenase 1-like 15342248,12477932 374875 AY268354,AY313894,AY313895,AY313896,BC018336,BC053546,BC062777,BC072434,BC093950,BC094798,BC112187,CR607228,CR622145,NM_198705,NM_198704,NM_198533,NM_198707,NM_198706,NM_198708,AC011499,CH471139,AY268351,AY268352,AY268353 AAP42287,AAP42288,AAP83166,AAP83167,AAP83168,AAH18336,AAH53546,AAH72434,AAH93950,AAI12188,Q7Z5J1,AAI52754,NP_941994,NP_941993,NP_940935,NP_941996,NP_941995,NP_941997,EAW69156,EAW69157,AAP42285,AAP42286 Hs.631840 SCDR10 protein-coding 737468 HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2 1300048,1625078,1580863,1625083 7859916,18456686,18061258,18032417,17551100,17519316,17515840,16872738,16804865,16778331,16406280,16272800,16271275,16144812,16109323,16061836,15673310,15643127,15643119,15591138,15489962,15489334,15466942,15305225,15172126,15167446,14981055,14681848,14629298,12911547,12860834,12788846,12788832,12642869,12574226,12519895,12477932,12417987,12364476,12161498,12109593,12015312,11956655,11916625,11850421,11787058,11755176,11711524,11350956,11238516,10948076,10523339,10489390,9851783,9707624,9683587,9661590,9398712,9034789,8611186,8611140,8547170,8530071,7670488,7656579,7608290,7593417,2889032,2845584,17028049,16979406 1625078,1625083 3291 NM_000196,AC009061,AY046280,CH471092,EF694683,U27317,BC036780,BC064536,CR599954,CR623797,CR626533,U14631,U26726 NP_000187,AAK91586,EAW83134,ABS29267,AAB48544,AAH36780,AAH64536,AAA91969,AAC50356,P80365,Q6P2G9,Q9UCW7,Q9UCW8 Hs.1376 GDB:409951 AME|AME1|HSD11K|HSD2 hydroxysteroid 11-beta dehydrogenase 2 protein-coding 736216 HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1 1580863,1300048 2330005,8547176,18483327,18415690,18086758,17953976,17588204,17507624,17457667,17454161,17301695,17110639,16969494,16954436,16949391,16896040,16489054,16480815,16467490,16311626,16260521,15733111,15640252,15489334,15241822,14973105,12527905,12519881,12519880,12490543,12477932,12223444,11212283,10625652,10460007,9927655,9525918,9435439,8855807,8805577,8756321,8703123,8389226,8206323,7663947,7648200,7626483,6578212,5045524,4719204,2846351,2779584,2584224,2547159,14966133,12584742,2197970,1977681,1327779 3292 NM_000413,AC067852,CH471152,M27138,M29037,M84472,U34879,AK127832,BC019592,BC033110,BC037415,BC104752,BC111935,CR597719,CR602152,CR606541,CR608305,CR610391,CR611891,CR612773,CR614131,CR614494,CR615508,CR616431,CR617984,CR620160,CR623810,M36263,X13440 NP_000404,EAW60836,AAB16941,AAB17014,AAB16942,AAD05019,AAH33110,AAI04753,AAI11936,AAA35600,CAA31792,P14061,Q13034,Q8N512 Hs.654385,Hs.655222 GDB:127970 EDH17B2|EDHB17|HSD17|MGC138140 hydroxysteroid 17-beta dehydrogenase 1 1643462,2289501,2289511 BW108_H,BW444_H,BW453_H protein-coding 732223 HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. 1358426,704404,1580863,1300048 11869808,11559359,11430884,11403151,10600649,10371197,10329704,9890977,9851691,9712734,9671743,9553139,9061028,8687463,16189514,9338779,18252223,17917077,17618155,17236142,16899120,16344560,16176262,16148061,16021519,15804423,15665036,15489334,15342248,15087549,14672739,12917011,12696021,12477932 1358426 3028 CH471154,Z97054,AF035555,AF069134,AU132847,AY092415,BC000372,BC000829,BC008708,CR456723,CR599230,CR600470,CR603411,CR615410,CR622026,CR622206,CR624141,U73514,U96132,NM_004493,NM_001037811,AF037438 EAW93157,EAW93158,EAW93159,CAI42651,CAI42652,CAI42653,AAC15902,AAC39900,AAM18189,AAH00372,AAH08708,CAG33004,AAB68958,AAC51812,Q5H927,Q5H928,Q6IBS9,Q99714,NP_004484,NP_001032900,AAC16419 Hs.171280 GDB:6054479 17b-HSD10|ABAD|ERAB|HADH2|HCD2|MHBD|SCHAD protein-coding 1352920 HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11 1580863 12697717,16344560,16303743,15489334,14996095,12975309,12477932,11165019,10800688,9888557 51170 NM_016245,AC108516,AY062939,CH471057,AF126780,AF273056,AK075348,AY358553,BC008650,BC011995,BC014327,BC016367,BC021673,BC036001,CA775960,CB163647,CR590939,CR598640,CR602713,CR603100,CR607201,DA265697 NP_057329,AAL48315,EAX05987,AAF06939,AAM44459,BAC11560,AAQ88917,AAH08650,AAH14327,AAH16367,AAH21673,AAH36001,Q8NBQ5 Hs.284414 17-BETA-HSD11|17-BETA-HSDXI|DHRS8|PAN1B|RETSDR2 dehydrogenase/reductase (sdr family) member 8 protein-coding 1346748 HSD17B12 hydroxysteroid (17-beta) dehydrogenase 12 The enzyme 17-beta hydroxysteroid dehydrogenase-12 (HSD17B12) uses NADPH to reduce 3-ketoacyl-CoA to 3-hydroxyacyl-CoA during the second step of fatty acid elongation.[supplied by OMIM] 16621523,16166196,16113833,15489334,15342556,14702039,12482854,12477932,9373149,8125298 51144 NM_016142,AC068205,AC087521,CH471064,CQ783872,CQ783997,AF078850,AK027882,AK074952,AK075011,AK075216,AK092938,AK222881,AK292625,BC012043,BC012536,BP359822,BX537496 NP_057226,EAW68080,EAW68081,EAW68082,EAW68083,EAW68084,EAW68085,EAW68086,EAW68087,EAW68088,EAW68089,CAF86901,CAF86962,AAD44482,BAB55429,BAD96601,BAF85314,AAH12043,AAH12536,Q53GQ0,Q96EA9,ABW03509 Hs.132513 GDB:11506143 KAR protein-coding 1342842 HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13 17311113,15489334,15221005,12975309,12477932 345275 NM_178135,AC108516,CH471057,AB073347,AK292784,AY186249,AY186250,AY268355,AY358575,BC112303,BC112305 NP_835236,EAX05985,EAX05986,BAD38632,BAF85473,AAO72313,AAO72314,AAP42289,AAQ88938,AAI12304,AAI12306,Q7Z5P4 Hs.284414 GDB:11508982 HMFN0376|MGC138508|MGC138510|NIIL497|SCDR9 protein-coding 1312097 HSD17B14 hydroxysteroid (17-beta) dehydrogenase 14 737633,1580863 17067289,16189514,15489334,12975309,12477932,10800688 737633 51171 NM_016246,AC026803,CH471177,AF126781,AY358430,BC006283,BC006294,BI602824 NP_057330,EAW52404,AAF06940,AAQ88796,AAH06283,AAH06294,Q9BPX1 Hs.18788 DHRS10|retSDR3 protein-coding 1353008 HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2 1580863 8099587,18372405,17993718,17953976,17510238,17507624,17505937,17260097,17081983,16954436,16807381,16595205,15489334,15199113,14666693,14634838,12957669,12477932,12161528,11940569,11672453,10999824,9783542,9435439,9373149,9360554,8855807,8125298,7824086,7759109,7626483,7546291 3294 NM_002153,AC092142,AY325910,CH471114,L40802,AK223001,BC009581,BC059170,CR590260,CR591324,CR591737,CR595269,CR595758,CR599647,CR600847,CR601534,CR614043,CR615010,CR623916,CR624530,L11708 NP_002144,AAP78485,EAW95519,AAC41917,BAD96721,AAH09581,AAH59170,AAA03562,P37059,Q53GD0,ABM84026,ABM87371 Hs.162795 GDB:385058 EDH17B2|HSD17 protein-coding 1344400 HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3 This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. 1599964,1580863 15583024,17509588,17466011,16174723,15654505,15489334,14634838,12477932,12210481,11158067,9758445,9709959,9467575,8626842,8550739,6310248,2918056,598011,8075637 1599964 3293 NM_000197,AL160269,AY341031,CH471174,BC034281,BT019371,CR541894,U05659 NP_000188,CAH71615,AAP88937,EAW92645,AAH34281,AAV38178,CAG46692,AAC50066,P37058,Q5U0Q6,Q6FH62,ABM82738,ABM85921 Hs.477 GDB:347487 EDH17B3 1643473 BW102_H protein-coding 731284 HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. 1599968,1580863,1300048 8902629,9880674,17220478,7487879,18415690,18281655,18086758,16766224,16385454,16344560,16326029,15644212,15635413,15489334,14702039,12477932,11992265,11964182,11743515,11700068,10419023,10402265,10400999,10343282,10199776,9915948,9783542,9482850,9345094,9197465,9133619,9089413,8938456,8547189,8279468,2921319,2303409 1599968 3295 AF057739,AF057740,CH471086,Y11393,AK094049,BC003098,CR592643,CR596907,CR613136,DA296575,DA426062,X87176,AC024564,AF057720,AF057721,AF057722,AF057723,AF057724,AF057725,AF057726,AF057727,AF057728,AF057729,AF057730,AF057731,AF057732,AF057733,AF057735,AF057736,AF057737,AF057738,NM_000414 EAW48910,EAW48911,CAA72203,AAH03098,CAA60643,P51659,Q59H27,Q9UBA4,ABM82792,ABM85981,NP_000405,AAD08652 Hs.406861 GDB:385059 DBP|MFE-2 peroxisomal multifunctional enzyme type ii 1643508 BW262_H protein-coding 1602229 HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. Transcript variants utilizing alternative polyadenylation signals exist. 17070195,12477932,11360992,11306067,11165032,10896656,9188497,11513953,17289849 8630 NM_003725,AC117378,AC121758,CH471054,AF016509,AF223225,AI760144,BC020710,U89281 EAW96964,NP_003716,EAW96963,EAW96965,EAW96966,AAB67236,AAF81017,AAH20710,AAB88252,O14756 Hs.524513 HSE|RODH protein-coding 735953 HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7 The 17-beta-hydroxysteroid dehydrogenase enzyme (EC 1.1.1.62) oxidizes or reduces estrogens and androgens in mammals and regulates the biologic potency of these steroids.[supplied by OMIM] 1580863,1300048 11969204,10544267,17498944,17454161,16901934,16356630,15862973,15489334,14702039,12975309,12829805,12732193,12477932,10419022,3855619 51478 NM_016371,AF162759,AF162760,AF162761,AF162762,AF162763,AF162764,AF162765,AF162766,AF162767,AJ250550,AL392003,AL445197,CH471067,AF098786,AF145023,AJ249179,AK022929,AK290741,AY358962,BC007068,BC065246,BT007075,CR625699 NP_057455,AAF14537,CAC88111,CAI15944,CAI15946,CAI15947,CAI15948,EAW90716,EAW90720,AAF09266,AAP97275,CAC20418,BAB14312,BAF83430,AAH07068,AAH65246,AAP35738,P56937,Q5T246,Q5T248,Q5T249,Q5T250,Q9H9C0,AAQ89321 Hs.492925 GDB:10796801 MGC12523|MGC75018|PRAP protein-coding 1349616 HSD17B7P1 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 1 148818 NG_001308,AJ297815 GDB:11506145 pseudo 1347247 HSD17B7P2 hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 15862963,12829805,12732193,12477932,10544267 158160 NR_003086,XR_042142,AL133216,AL133217,AF165514,AF165517,AY829267,BC071987,BM148133 AAF86644,AAF86647,AAV87307,AAH71987,Q5MGS6,Q5T247,Q5W158,Q5W159,Q6IPC1,Q9NRW5,Q9NRW6 Hs.652484 FLJ40773|HSD17B7|Hsd17b_2|MGC88684|bA291L22.1 pseudo 1351353 HSD17B8 hydroxysteroid (17-beta) dehydrogenase 8 In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. 1580863 17583490,16930994,16381901,15489336,15489334,14574404,12477932,12136098,11165015,11076863,9712896,9205114,8812499 7923 NM_014234,AJ328015,AL645940,AL662824,AL713971,AL844527,CH471081,CR759733,CR759786,CR847841,D84401,BC008185,BT007239,CR593502,D82061 NP_055049,CAI18068,CAI17616,CAI17657,CAI41840,EAX03682,CAQ10302,CAQ08245,CAQ10313,AAH08185,AAP35903,BAA11529,Q5STP7,Q92506,CAL38385 Hs.415058 GDB:11500748 D6S2245E|FABG|FABGL|H2-KE6|HKE6|KE6|RING2|dJ1033B10.9 protein-coding 1343605 HSD17BP1 hydroxysteroid (17-beta) dehydrogenase pseudogene 1 8703123,2779584 643646 NG_006749,AC067852,U34879 GDB:119860 EDH17B1|EDHB17|HSD17 pseudo 1347893 HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 1580863,1626438 1944309,8274411,18281655,18223326,17826523,17689071,17627014,17624763,17589376,17507624,16302261,15797861,15489334,15291757,15291746,12054649,12050213,11912155,11174850,10810285,10391209,10067877,8908375,8043598,7673125,2779585,2243100,2139411,2082186,2066113,1920284,1737804,1673569,1401999,15097232,14764797,12832414,12530676,12530651,12477932,12438565,12205101 1626438 3283 AL121995,CH471122,M28392,M38180,M63397,AK291556,AL544564,BC031999,CR590386,CR592176,CR592878,CR592971,CR593000,CR593718,CR594828,CR595151,CR597734,CR599088,CR600450,CR601348,CR601599,CR602148,CR603707,CR606137,CR608233,CR608288,CR609339,CR611232,CR611960,CR612272,CR612644,NM_000862,CR613080,CR613981,CR614968,CR615472,CR615721,CR615908,CR616641,CR617417,CR617775,CR617799,CR618495,CR619906,CR621102,CR622398,CR623220,CR625130,CR626548,M27137,M35493,S45679,X53321,X55997 NP_000853,CAI23359,EAW56703,EAW56704,AAA36001,AAA51831,AAA51662,BAF84245,AAH31999,AAA36015,AAA51538,AAB23543,CAA37408,CAA39469,P14060,Q5TDG2,ABM82087,ABM85268 Hs.364941 GDB:120056 HSD3B|HSDB3 1643449 BW98_H protein-coding 1318588 HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 1625114,1625113,1580863 1944309,18000308,17823934,17689071,17589376,17507624,17220347,16846535,16710414,16648810,15928316,15767343,15615861,15585552,15498889,15489334,15208301,15131259,14764821,14764797,14671206,12530651,12477932,12205101,12050213,11912155,11287026,10843183,10651755,10599696,9719627,9373149,8943802,8316254,8284113,8185809,8126127,8125298,8060486,7962268,7893703,7833923,7633460,7633426,7608265,2066113,1741954,1363812,295036 1625114,1625113 3284 NM_000198,AL359553,CH471122,M77144,S60309,S60310,AK222997,BC038419,BC131488,CF596786,CR595742,M67466 NP_000189,CAC19799,CAI23079,EAW56700,EAW56701,EAW56702,AAA36014,AAC60599,AAC60600,BAD96717,AAH38419,AAI31489,AAA36016,P26439,Q5QP01,Q9UD06,ABM82690,ABM85874 Hs.654399 GDB:134044 HSDB|HSDB3 1643449 BW98_H protein-coding 734010 HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 737780,1599971 11067870,15489334,14702039,12679481,12477932 737780,1599971 80270 NM_025193,AC135048,AF277719,AK057436,AK290950,AK292068,BC004929 NP_079469,AAG37824,BAB71486,BAF83639,BAF84757,AAH04929,Q96M28,Q9H2F3,ABW03858,ABW03859 Hs.460618 PFIC4 protein-coding 1352915 HSD3BP1 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1 10552929 3285 GDB:9835122 1343430 HSD3BP2 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2 10552929 3286 GDB:9835123 1348084 HSD3BP3 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3 10552929 3287 GDB:9835124 1350891 HSD3BP4 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4 10552929 3288 GDB:9835125 1343192 HSD3BP5 hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5 10552929 3289 GDB:9835126 1354077 HSDL1 hydroxysteroid dehydrogenase like 1 17353931,14702039,12477932,12153137 83693 NM_031463,AC040169,CH471114,CQ782843,AF237684,AK025626,AK074878,AK098199,AY028377,BC018084,BC104218,BC104219,BC106917 NP_113651,EAW95502,EAW95503,EAW95504,CAF86070,AAK15047,BAC11262,AAK16927,AAH18084,AAI04219,AAI04220,AAI06918,Q3SXM5 Hs.555992 MGC125994|MGC125995|MGC126032 protein-coding 1350650 HSDL2 hydroxysteroid dehydrogenase like 2 1580863 14702039,12834046,12477932,9373149,8125298 84263 NM_032303,AL162732,CH471105,AK090940,AK098721,AK225946,AK289929,AK292486,AL833735,AY093428,BC004331,BC036620,BC047074,BC095451 NP_115679,CAM17151,CAM17152,EAW59104,EAW59105,EAW59106,EAW59107,BAF82618,BAF85175,CAH56256,AAM14670,AAH04331,AAH95451,Q6YN16 Hs.59486 C9orf99|FLJ25855|MGC10940 protein-coding 730995 HSF1 heat shock transcription factor 1 The product of this gene is a heat-shock transcription factor. Transcription of heat-shock genes is rapidly induced after temperature stress. Hsp90, by itself and/or associated with multichaperone complexes, is a major repressor of this gene. 1580863 16278218,1871105,10821850,18286539,17897941,17889646,17873279,17273789,17244614,17216044,17213196,17081983,16678833,16624816,16525201,16428449,16382149,16344560,16303760,16293251,16051598,15777846,15760475,15702990,15661742,15489334,15457556,15364926,15358168,15302935,15152009,15081420,14960326,14766217,14707147,14702039,14699143,12917326,12878154,12813038,12665592,12659875,12646186,12621024,12477932,12468538,11994473,11877455,11851405,11820785,11801594,11583998,11527157,11486022,11447121,11162511,11005381,10867642,10747973,9880553,9727490,9699716,12865437,9649501,9499401,9373149,9359875,9325337,9222609,8940068,8856972,8125298,7639722,1871106,1628823,14751250,16189514,9155018 3297 NM_005526,AC110280,AF205589,CH471162,AF299094,AK054762,AK125467,AK126580,AK222497,AK290975,BC014638,BC106084,BT007351,CR613149,CR623211,DA481620,M64673 NP_005517,EAW82131,AAG23698,BAC86603,BAD96217,BAF83664,AAH14638,AAI06085,AAP36015,AAA52695,Q00613,Q3KQR6,Q53HT3,Q6ZTI4,Q9HAV2,ABM84785 Hs.530227,Hs.571397 GDB:128783 HSTF1 protein-coding 68578 HSF2 heat shock transcription factor 2 HSF2, as well as the related gene HSF1, encodes a protein that binds specifically to the heat-shock element and has homology to HSFs of other species. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Although the names HSF1 and HSF2 were chosen for historical reasons, these peptides should be referred to as heat-shock transcription factors. 1580863 1871106,18211895,17915561,17688198,17213196,16428449,15662014,15489334,14699143,14574404,12865437,12813038,12477932,11795475,11278381,10224043,9651507,9373149,9367915,9118008,8339932,8125298,1717345 3298 NM_004506,AL121954,CH471051,DQ492684,AK225593,AK225594,BC005329,BC064622,BC112323,BC121050,BC121051,BC128420,CR597278,CR604546,CR623759,CR626481,M65217 NP_004497,CAC14262,EAW48174,EAW48175,EAW48176,EAW48177,ABF47087,AAH05329,AAH64622,AAI12324,AAI21051,AAI21052,AAA36017,Q03933,Q0VAH9,Q9BS48,ABZ92426,AAI28421 Hs.158195 GDB:128716 MGC117376|MGC156196|MGC75048 heat shock factor 2 protein-coding 1349418 HSF2BP heat shock transcription factor 2 binding protein HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. 1580863 9651507,16780588,15489334,12477932,10830953 11077 NM_007031,AP001050,AP001051,AP001052,AP001751,AP001752,CH471079,AB007131,BC000153,CR457067 NP_008962,BAA95537,BAA95539,EAX09485,EAX09486,BAA31967,AAH00153,CAG33348,O75031,Q6IAT7,ABZ92301 Hs.406157 GDB:9956419 protein-coding 1321924 HSF4 heat shock transcription factor 4 Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. 1599774,1580863 8125298,8972228,16876512,16552721,16344560,16341674,15959809,15308659,15277496,12089525,10737800,10488131,9373149 1599774 3299 NM_001538,NM_001040667,AB029347,AC074143,CH471092,AB029348,AK225152,BC130383,BG980713,BI001524,BM768246,BM805441,D87673,DA111974,DA372008 NP_001529,NP_001035757,BAA84581,EAW83083,EAW83084,EAW83085,EAW83086,BAA84582,BAA13433,Q9ULV5,AAI46447,AAI53062 Hs.512156 GDB:9835725 CTM protein-coding 1604244 HSF5 heat shock transcription factor family member 5 12477932 124535 NM_001080439,AC005666,AC023992,AL137385,BC033017,BC033020,BC115385,BC115386 NP_001073908,AAH33017,AAH33020,AAI15386,AAI15387,A0AUM3,Q4G112 Hs.380061 FLJ40311|MGC134827 protein-coding 1605081 HSFX1 heat shock transcription factor family, X linked 1 16713569,15044259,12477932 51402 NM_016153,AC016940,AF139981,AF139982,CH471169,AF139980,BC021706 NP_057237,AAD45880,EAW99371,AAD45879,AAH21706,Q0JRW4,Q9UBD0,ABM84571,ABW03316 Hs.709146 LW-1 protein-coding 1625803 HSFX2 heat shock transcription factor family, X linked 2 728302 XM_001126546,AC016939,AF139980,BC021706 XP_001126546,AAD45879,AAH21706 Hs.656936,Hs.709146 protein-coding 1323575 HSFY1 heat shock transcription factor, Y-linked 1 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 15044259,14985478,12815422,12477932 86614 NM_033108,NR_003510,NM_152584,NG_004636,AC022486,CH471202,AF332226,AF332227,AJ566404,BC036567,BC055414,BC117380,BC117382,BX281920 NP_149099,NP_689797,EAW54676,EAW54677,EAW54678,AAK13478,AAK13479,CAD98806,AAH36567,AAH55414,AAI17381,AAI17383,ABZ92078 Hs.662281 HSF2L|HSFY protein-coding 1348679 HSFY2 heat shock transcription factor, Y linked 2 This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 737633 15489334,15044259,14985478,14702039,12815422,12477932 737633 159119 NR_003509,NM_001001877,NM_153716,NG_004636,AC007379,AK058182 NP_001001877,NP_714927,BAB71706,Q96LI6,AAI48446,AAI53036 Hs.592255 FLJ25453|HSF2L|HSFY protein-coding 1313876 HSH2D hematopoietic SH2 domain containing T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM] 737633,1580863 16169852,15489334,15284240,14702039,12960172,12477932,11700021 737633 84941 NM_032855,AC008894,AC020911,CH471106,AK027792,AK131222,AY319652,BC016826,BC025237 NP_116244,EAW84528,EAW84529,EAW84530,EAW84531,EAW84532,BAB55372,BAD18408,AAQ81285,AAH16826,AAH25237,Q96AS3,Q96JZ2,ABM83091,ABM86285 Hs.631617 ALX|FLJ14886|HSH2 protein-coding 1347187 HSN2 hereditary sensory neuropathy, type II 1303985 15060842,16713569,16541075,16534117,15911806,15455397,4351257 1303985 378465 NM_213655,AC004765,BK004108,BC130467,BC130469 NP_998820,DAA04494,AAI30468,AAI30470,Q6IFS5 Hs.656067 HSAN2 protein-coding 1347335 HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 11470816,9660753,12526792,2527334,9580552,10781589,18229454,18211808,18037622,17978573,17977914,17975158,17956728,17915561,17908693,17826744,17728246,17707089,17698952,17569659,17548610,17427945,17397257,17336451,17327415,17324930,17304350,17299090,17222799,17218278,17211576,17148781,17088927,17083915,17081983,17081065,17030621,16949366,16938294,16923571,16844778,16807684,16774932,16741950,16698020,16682002,16644868,16611982,16583711,16565516,16531226,16495214,16478993,16403413,16396496,16394098,16344560,16330544,16300468,16280321,16278218,16269234,16263121,16171778,16169070,16132836,16118214,16049054,16038408,15972449,15951401,15937123,15894266,15850399,15822905,15791211,15782121,15777846,15647277,15613472,15529360,15526284,15489334,15358771,15358769,15247219,15235609,15231747,15182205,15062560,11864612,11812147,11809754,11805120,11779851,11751894,11751892,11751878,12559950,12538866,12504007,12482853,12482202,12477932,12446770,12427754,12226087,12220519,12176997,12167617,12145316,12124224,12117999,12077419,11988487,11912194,11911945,11888936,15046863,15009113,15001580,14743216,14739935,14724288,14718169,14702039,14668798,14614132,14570880,14557268,12871950,12855682,12853476,12676772,12670868,12644583,12604615,12586360,7794926,7588731,2780322,2591742,2507541,2492519,2469626,1740332,1525041,1406681,1368637,1310678,15020715,15710247,12621024,9222609,16189514,11707406,12930902,14697242,14559896,14499622,1540595,15782129,12614460,15643424,15618521,15664193,12471035,7876093,7813446,11748628,11744239,11598136,11583998,11557750,11507088,11447118,11333259,11284722,11237709,11146632,11099500,11071886,11036079,10995457,10913161,10903152,10786835,10744744,10617616,10578053,10508479,10400612,10376793,10197982,10076566,10066374,9837941,9817749,9749880,9685350,9602032,9452498,9392437,9334248,9269769,9261129,9195923,9148915,9111057,9108479,9083006,9079689,9001212,8898375,8776728,8645634,8621522,8486648,8408024,8404044,7961671 3320 AK056446,AK129557,AK291115,AK291607,BC000987,BC001695,BC007989,BC017233,BC023006,BC108695,BC121062,BX247955,BX248761,CR589993,CR593964,CR594716,CR596117,CR599002,CR604052,CR605488,CR607053,CR610614,CR611827,CR611873,NM_005348,AL133223,CH471061,DQ314871,M27024,M30626,AF028832,AI250920,AJ890082,AJ890083,NM_001017963,CR613014,CR615580,CR619460,CR621835,CR623660,DA237149,DC303876,X07270,X15183 BAF83804,BAF84296,AAH00987,AAH07989,AAH23006,AAI08696,AAI21063,CAD62296,CAD66568,NP_001017963,NP_005339,EAW81765,EAW81766,EAW81767,EAW81768,ABC40730,AAA63194,AAA36023,AAC25497,CAI64495,CAA30255,CAA33259,O75322,P07900,Q2VPJ6,CAI64496,Q86SX1,Q86U12,Q8TBA7,Q96HX7 Hs.525600,Hs.700831 GDB:118813 FLJ31884|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp89|Hsp90|LAP2 heat shock 90kda protein 1, alpha protein-coding 1316342 HSP90AA2 heat shock protein 90kDa alpha (cytosolic), class A member 2 1580863 17724475,16269234,15146192,2591742,1740332,14743216 3324 NG_005856,AC103796,M30627 AAA36024,Q14568 Hs.523560 GDB:128598 HSP90ALPHA|HSPCA|HSPCAL3 heat shock 90kda protein 1, alpha-like 3 pseudo 1348010 HSP90AA3P heat shock protein 90kDa alpha (cytosolic), class A member 3 (pseudogene) 16269234,1740332 3322 NG_005218,AL365440 GDB:128596 HSPCAL1 heat shock 90kda protein 1, alpha-like 1 pseudo 1348889 HSP90AA4P heat shock protein 90kDa alpha (cytosolic), class A member 4 (pseudogene) 16269234,9847074,1740332 3323 NG_003014,AC020698 GDB:128597 HSPCAL2 heat shock 90kda protein 1, alpha-like 2 pseudo 1605779 HSP90AA5P heat shock protein 90kDa alpha (cytosolic), class A member 5 (pseudogene) 16269234 730211 NG_005673,AC131235,AY956761 Hs.581644 HSP90Ae pseudo 1606064 HSP90AA6P heat shock protein 90kDa alpha (cytosolic), class A member 6 (pseudogene) 16269234 441051 NG_005677,AC096571,AY956762 AAX38249,Q58FF9 HSP90Af pseudo 1346893 HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 1580863 2768249,17764690,17081983,17081065,16964243,16916647,16582619,16565220,16280321,16269234,16094384,15952740,15822905,15791211,15635413,15592455,15581363,15497503,15489334,15324660,15302935,15284248,14743216,14697242,14574404,14532285,12559950,12477932,11795466,11707401,11230166,11099500,10995457,10376793,9150948,8180474,7588731,7581991,3301534,2492519,2469626 3326 NM_007355,AL139392,CH471081,D17804,DQ314872,J04988,S70561,AF275719,AK025370,AK130494,AK290734,AL136543,AY359878,BC004928,BC007327,BC009206,BC012807,BC014485,BC016753,BC068474,BX649079,CR596772,CR597716,CR605481,CR612013,CR613983,CR618851,M16660 NP_031381,CAI20094,CAI20095,CAI20096,CAI20097,CAI20098,EAX04257,EAX04258,EAX04259,EAX04260,BAA22050,ABC40731,AAA36026,AAD14062,AAF82792,BAB15121,BAF83423,CAB66478,AAQ63401,AAH04928,AAH07327,AAH09206,AAH12807,AAH14485,AAH16753,AAH68474,AAA36025,O14942,P08238,Q6PK50,Q9H6X9,ABM83950,ABM87267 Hs.509736,Hs.689683 GDB:118814 D6S182|FLJ26984|HSP90-BETA|HSP90B|HSPC2|HSPCB heat shock 90kda protein 1, beta protein-coding 1602950 HSP90AB2P heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene) 16507910,16288044,16269234 391634 NR_003132,AC006226,AY956763 AAX38250,Q58FF8 Hs.590925 HSP90BB pseudo 1348468 HSP90AB3P heat shock protein 90kDa alpha (cytosolic), class B member 3 (pseudogene) 16269234,9847074,8288256 3327 NG_003015,AC093768,AY956764 Q58FF7 Hs.696394 GDB:4627427 HSP90BC|HSPCP1 heat shock 90kda protein 1, beta pseudogene 1 pseudo 1602939 HSP90AB4P heat shock protein 90kDa alpha (cytosolic), class B member 4 (pseudogene) 16269234 664618 NR_002927,AC091046,AY956765 AAX38252,Q58FF6 Hs.670224 HSP90Bd|HsHsp90Bd pseudo 1606854 HSP90AB5P heat shock protein 90kDa alpha (cytosolic), class B member 5 (pseudogene) 16269234 442083 NG_005680,AC016930,AY956766 Hs.627167 HSP90BE pseudo 1604670 HSP90AB6P heat shock protein 90kDa alpha (cytosolic), class B member 6 (pseudogene) 16269234 541611 AL353581,AY956767,NG_005682 AAX38254,Q58FF4 Hs.627166 HSP90Bf pseudo 1321409 HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 1580863 11958450,10497210,15082773,15192333,16130169,15845869,15620698,9596688,18331622,18273841,18264092,18178560,17805476,17726464,17612505,17545519,17431395,17347446,17082602,17081065,16754684,16630554,16497268,16288044,16269234,16263699,16015374,15962384,15952740,15728573,15637761,15489334,15257553,15107540,14500642,12754519,12665801,12654781,12643545,12477932,12475965,12470827,12397072,12167617,11912201,11861214,11584270,11557039,10049727,9694898,9006956,8617772,7768954,7523574,2546060,2378869,2377606,2325637,1512535,16189514,11726552,14499622,15082718 7184 NM_003299,AC078819,CH471054,CS288589,M26596,M33716,AB209534,AF087988,AJ890084,AK025459,AK025862,AY040226,BC009195,BC066656,CR606918,X15187 NP_003290,EAW97723,EAW97724,CAK18765,AAA58621,AAA68201,BAD92771,CAI64497,AAK74072,AAH09195,AAH66656,P14625,Q59FC6,Q5CAQ5,Q96GW1,CAA33261 Hs.192374 GDB:127926 ECGP|GP96|GRP94|TRA1 tumor rejection antigen (gp96) 1 protein-coding 1347885 HSP90B2P heat shock protein 90kDa beta (Grp94), member 2 (pseudogene) 16269234 7190 NG_005740,AC022819,AY956768 AAX38255,Q58FF3 Hs.656611 GRP94P1|GRP94b|HSP|HSPCP2|HsGrp94b|TRA1P1|TRAP1 tumor rejection antigen (gp96) 1 pseudogene 1 pseudo 1351324 HSP90B3P heat shock protein 90kDa beta (Grp94), member 3 (pseudogene) 16269234 343477 XR_017811,XR_017728,NR_003130,AC099334,AY956769 GDB:127924 GRP94C|TRA1P2|TRAP2 pseudo 1313610 HSPA12A heat shock 70kDa protein 12A 1580863 15601604,14702039,12552099,12477932,9455477,8889548 259217 NM_025015,AC016825,CH471066,AB007877,AK023936,BC041412,BU738372 NP_079291,EAW49443,BAA24847,BAB14733,O43301,Q9H884,AAI56092,AAI56890 Hs.654682 GDB:11509682 FLJ13874|KIAA0417 protein-coding 1323758 HSPA12B heat shock 70kD protein 12B The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. 1580863 15489334,14702039,12552099,12477932,11780052,12832005,7906708 116835 NM_052970,AL109804,CH471133,AK056712,BC090857,BC110881,BC117284,BC126263,BF056643 NP_443202,CAC17544,CAI18841,EAX10515,EAX10516,BAB71261,AAH90857,AAI10882,AAI17285,AAI26264,Q5BKZ8,Q5JX83,Q96MM6 Hs.516854 C20orf60|FLJ32150|MGC131912|dJ1009E24.2 protein-coding 1350459 HSPA14 heat shock 70kDa protein 14 737633,1580863 15146197,14702039,14592822,12477932,10786835,9373149,8125298,12832005,7906708 737633 51182 NM_016299,AC069544,CH471072,EF444968,AA782088,AF112210,AF143723,AK000880,AK225265,AK225651,AK226065,AK292323,BC026226,BC038845,BC065281,BC108738,BC119690,BC119691,BQ424016,CN308284,CR590065,CR610820,BC015696 NP_057383,EAW86258,EAW86259,EAW86260,EAW86261,EAW86262,ACA05968,ACA05969,ACA05970,AAF17198,AAF66640,BAF85012,AAH26226,AAH65281,AAI08739,AAI19691,Q0VDF9,Q6P155,Q8TAQ0 Hs.534169 HSP70-4|HSP70L1|MGC131990 protein-coding 1349475 HSPA1A heat shock 70kDa protein 1A This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. 1580863 15735003,18299791,18274635,18166694,18158591,17977914,17915559,17915554,17891901,17873279,17668636,17645866,17591867,17582394,17555092,17471537,17428599,17364813,17332370,17278879,17235439,17158748,17081983,17009596,16964243,16896546,16804002,16713569,16679378,16647242,16543726,16538176,16538175,16492383,16441767,16400691,16333988,16202503,16201310,16172114,16133872,16012946,15963589,15963462,15952740,15832029,15748471,15735699,15662014,15632129,15569319,15544165,15489334,15456888,15324660,15292002,15280693,15232679,15207703,15190186,15165109,15079808,14993262,14981913,14702039,14656967,14605873,14574404,14527417,14503850,14501185,12963728,12941774,12935469,12930708,12865437,12840151,12724406,16624816,12687213,12682040,12677068,12670868,12526792,12490434,12477932,12411538,12397061,12391142,12207910,12167701,12167617,12161444,12150907,12149123,12093808,12082592,12082088,12080070,12077419,12008944,11971973,11932435,11912194,11888936,11877453,11864979,11821413,11798084,11790298,11785981,11779758,11741305,11696222,11679576,11595173,11584023,11533664,11527400,11500375,11415446,11356186,11310559,11215307,11133992,11101523,10980614,10964507,10934467,10862698,10786835,10651811,10629618,10617616,10593983,10376524,10354271,10330192,10216320,10205060,10092532,9920933,9873016,9830037,9699716,9649501,9373149,9305631,9261129,9252351,9250404,9148915,8887650,8125298,7811761,7529764,3931075,3786141,3470951,3019832,2880793,2858050,2538825,1700760,1628823,1478667,12832005,7906708,15331702,15142379,15832179,15817944,15166037,15780175,15638722,16189514,14499622,14517289,1540595,11230127,14743216 3303 AB018045,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,DQ388429,DQ451402,M11717,M24743,M59828,X04676,X04677,AB209818,AK096017,AK225692,AK225699,AK291295,BC002453,BC009322,BC018740,CR591386,CR593858,CR595673,CR598680,CR599258,CR600856,CR603812,CR605652,CR605852,CR606370,CR606872,CR608110,CR609094,NM_005345,CR609187,CR610055,CR618761,CR620700,CR621778,CR624878,CR626292 NP_005336,BAA77235,AAD21816,CAI17737,CAI17738,CAI18216,CAI18217,CAM25532,CAI18464,CAI18465,CAI18466,BAB63300,EAX03528,ABD48956,ABD96830,AAA52697,AAA59844,AAA63226,CAA28381,CAA28382,BAD93055,BAF83984,AAH02453,AAH09322,AAH18740,P08107,Q59EJ3,Q5SP14,Q9UQC1,ABW03885 Hs.520028 GDB:120057 HSP70-1|HSP70-1A|HSP72|HSPA1|HSPA1B protein-coding 736398 HSPA1B heat shock 70kDa protein 1B This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. 1580863,1626649,1626646,1626642 16130169,10205060,10859165,18478330,18344806,18299791,17582394,17558451,17532782,17428599,17364813,17314700,17311111,17301649,17158748,17081983,16964243,16953332,16804002,16713569,16525348,16441767,16344560,16333988,16236267,16202503,16165702,15992611,15963589,15963462,15748471,15714129,15489334,15324660,15236755,15232679,15223990,15165109,14656967,14605873,14574404,14506234,12967056,12730033,12703993,12691826,12544996,12490434,12477932,12411538,12391142,12207910,12082592,12008944,11971973,11932435,11864979,11779758,11730740,11696222,11533664,11231577,10964507,10617616,10216320,3931075,3786141,3470951,3019832,2880793,2858050,2538825,1700760,1478667,12832005,7906708,14743216 1626649,1626646,1626642 3304 AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR388202,CR759915,M24744,M59830,AL360193,BC001876,NM_005346,BC063507,CR602771,CR612907,CR625958,DB015158,BC057397 NP_005337,AAD21815,BAB63299,EAX03529,CAQ09504,CAQ09505,CAQ09510,CAQ07257,CAQ07258,CAQ07259,AAA59845,AAA63227,AAH57397,AAH63507,P08107,ABM87425 Hs.274402 GDB:630649 HSP70-1B|HSP70-2|HSPA1A heat shock 70kd protein 1a 1643377 BW325_H protein-coding 1353078 HSPA1L heat shock 70kDa protein 1-like This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. 1580863 15236755,15489336,15489334,15165109,14656967,14605873,14574404,12742533,12544996,12477932,12082592,12008944,11779758,11696222,11599570,11334675,11076863,11040178,9373149,9349405,8125298,3927293,3470951,2880793,2538825,1700760,1356099,14743216,9685725,18299791,17934269,17591867,17582394,17578680,17428599,17060867,17009596,16611259,16565291,16538176,16538175,16525348,16381901,16333988,16202503,15963589,15818324 3305 NM_005527,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR388202,DQ383515,M11236,M59829,AK223386,BC034483,BG717447,BX115051,CA443193,D85730 NP_005518,CAL37689,CAL38291,CAI17736,CAI18215,CAI18463,BAB63301,EAX03527,CAQ09503,ABC88476,AAA52696,AAA63228,BAD97106,AAH34483,BAA32521,P34931,Q0JT73,Q53FA3,CAL37423,AAD21817 Hs.690634 GDB:120058 HSP70-1L|HSP70-HOM|HSP70T|hum70t protein-coding 735843 HSPA2 heat shock 70kDa protein 2 1580863 3037489,8622925,7829106,12493773,17940904,17922431,17532782,17369882,17009596,17007855,16875346,16713569,16517558,16344560,16189514,15489334,15146197,14702039,12782964,12771604,12730033,12477932,11932435,11790298,11334675,11196683,11040178,10964507,10617616,9247342,8601336,7849706,1474216,12832005,7906708,14743216 3306 NM_021979,AL049869,CH471061,DQ489378,L26336,U10149,AK097824,BC001752,BC034365,BC036107,BG772858,BI461827,BT009815,CD300159,CN356507,CR592476,CR596961,CR601304,CR601466,DB042367 NP_068814,EAW80864,EAW80865,ABE96830,AAA52698,AAC50076,AAH01752,AAH36107,AAP88817,P54652,ABM83464,ABM86675 Hs.432648 GDB:120059 HSP70-2|HSP70-3 testis-specific heat shock protein-related gene hst70 protein-coding 1345994 HSPA3 heat shock 70kDa protein 3 3307 GDB:120060 733190 HSPA4 heat shock 70kDa protein 4 1580863 17278883,17278882,17240362,17211576,17206383,17012257,17010992,16845230,16790501,16713569,16584808,16579839,16021519,15992611,15950770,15818324,15677475,15592455,15529360,15507967,15378924,14987991,12754272,12526792,12485826,12477932,12356871,11932435,11777905,11707406,10964507,10617616,10524232,9694873,9392437,9161406,9115634,8889548,12832005,7906708,9222609,1628823,12167701,16189514,12677068,12670868,12930902,14594945,14503850,14506234,14527417,14559896,15215856,15456888,14743216,17154545,12077419,10330192,12482202,9920933,10376524,7529764,9649501,15654337,15603737,17311516,8335910,18439902,18297536,18258197,18162458,17715156,17616937,17580361,17553457 3308 AC113410,CH471062,X67640,AB023420,AB209151,BC002526,NM_002154,BC110861,BC126122,BC126124,BG723797,BQ431980,BT007375,BU171424,BU686725,CF145856,CR601827,L12723,X67643 NP_002145,EAW62294,EAW62295,CAA47885,BAA75062,BAD92388,AAH02526,AAI10862,AAI26123,AAI26125,AAP36039,AAA02807,CAA47886,O14992,P34932,Q2TAL4,Q59GF8,Q7KYN0,Q9BUK9 Hs.90093 GDB:127961 APG-2|HS24/P52|MGC131852|RY|hsp70|hsp70RY heat shock 70 kda protein 4 protein-coding 1350877 HSPA4L heat shock 70kDa protein 4-like 1580863 17353931,15815621,15489334,14702039,12952923,12477932,12423363,11389747,10524232 22824 NM_014278,AC093591,CH471056,AB023421,AK027822,AY290862,BC040560,EF197155 NP_055093,AAY40975,EAX05197,EAX05198,BAA75063,AAP44471,AAH40560,ABM69040,O95757,Q53ZP9 Hs.135554 APG-1|Osp94 protein-coding 736447 HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) When Chinese hamster K12 cells are starved of glucose, the synthesis of several proteins, called glucose-regulated proteins (GRPs), is markedly increased. Hendershot et al. (1994) [PubMed 8020977] pointed out that one of these, GRP78 (HSPA5), also referred to as 'immunoglobulin heavy chain-binding protein' (BiP), is a member of the heat-shock protein-70 (HSP70) family and is involved in the folding and assembly of proteins in the endoplasmic reticulum (ER). Because so many ER proteins interact transiently with GRP78, it may play a key role in monitoring protein transport through the cell.[supplied by OMIM] 1580863 17931354,17906960,17848573,17805346,17728248,17670764,17640713,17431395,17081065,17062670,17002502,16912197,16912156,16731524,16543232,16497268,16488447,16472112,16400691,16329989,16282978,16236267,16182273,16169070,16168956,16130169,15952740,15949590,15899857,15817150,15778089,15664986,15657421,15635413,15618547,15525676,15514946,15489334,15456888,15324660,15308636,15146195,15077298,15009096,12840015,17220478,18343577,18331622,18192872,18083346,18064632,18022401,17991893,17942541,17936241,17932454,12713871,12665508,12643545,12637535,12621026,12552023,12516782,12514190,12493773,12480769,12477932,12475965,12411443,12397072,12383251,12359150,12356756,12194978,12097557,12076252,11943137,11932435,11907036,11790298,11752154,11751874,11719466,11476899,11294872,11162507,11160188,11013075,10964928,10964507,10906332,10887119,10777498,10760948,10617616,10461883,10397760,10197448,10049727,9885241,9492298,9409741,9305856,9150948,9150946,9006956,8020977,7957306,7878056,7724523,3122216,3087629,2840249,2294010,1649196,1602151,1480470,12832005,10514465,1900540,7906708,14743216,10970892,11765911 3309 AL354710,NM_005347,CH471090,CS288575,DQ385847,M19645,X59969,AF188611,AF216292,AJ271729,AK129617,BC020235,BC112963,X87949 NP_005338,EAW87620,EAW87621,CAK18759,ABD04090,AAA52614,CAA42595,AAF13605,AAF42836,CAB71335,AAH20235,AAI12964,CAA61201,P11021,Q2KHP4,ABM83099,ABM86294 Hs.605502 GDB:127962 BIP|FLJ26106|GRP78|MIF2 heat shock 70kd protein 5 protein-coding 1346401 HSPA6 heat shock 70kDa protein 6 (HSP70B') 1580863 2327978,18229458,15489334,14702039,12477932,11932435,10964507,10617616,10413683,9373149,8125298,7545947,3184191,1346391,12832005,7906708 3310 NM_002155,AL590385,DQ521571,X51757,AK093925,AK223362,BC004279,BC035665,BQ008960,BQ217460,X51758 NP_002146,CAI16120,ABF47108,CAA36061,BAD97082,AAH04279,AAH35665,CAA36062,P17066,Q53FC7,Q5QNY2,ABM83372,ABM86583 Hs.654614 GDB:127963 protein-coding 1349004 HSPA7 heat shock 70kDa protein 7 (HSP70B) 1580863 17915556,17915554,17163517,17044073,11072087,3927293,1346391 3311 XR_016083,AF093759 P48741 Hs.662180 GDB:127964 HSP70B pseudo 736219 HSPA8 heat shock 70kDa protein 8 The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Two alternatively spliced variants have been characterized to date. 1580863 8530083,10954706,11093761,12493773,8713105,18261988,17954934,17934269,17929041,17878160,17876681,17785435,17636261,17569659,17397964,17296233,17284448,17240362,17081065,17022977,16903783,16817320,16696853,16365278,16324147,16236267,16169070,16100000,12890148,12850307,12840151,12670868,12502735,12477932,12421917,12356871,11932435,11909948,11790298,11741305,11679576,11276205,11241348,10976766,10964507,10722728,10635329,10625686,10617616,10330192,10205060,10197448,10075921,9873016,9830037,9694898,9675148,9463375,9373149,9305631,9269769,8892974,8663341,8125298,7826371,7673249,7639722,7578144,7559589,7545947,3037489,2966179,2155506,1975516,1586970,1286667,12832005,7906708,11707406,16189514,12724406,14499622,9738006,14743216,8940078,14532270,9235949,15952740,15795242,15694383,15644312,15635413,15625011,15592455,15497503,15489334,15456888,15336565,15324660,15302935,15292236,15194794,15086793,15048123,15009096,14993262,14991745,14760703,14702039,14684748,14612456,15972823,15963462,15802566 3312 NM_006597,NM_153201,AP000926,CH471065,Y00371,AB034951,AB073886,AF217511,AF352832,AK000571,AK096100,AK129885,AK222628,AK222785,AK292067,BC007276,BC008907,BC015699,BC016179,BC016660,BC019816,BC042163,CR597390,CR598352,CR598455,CR599778,CR605894,CR609237,CR614382,CR617847,CR618452,CR618855,CR619085,CR623327 NP_006588,NP_694881,EAW67539,EAW67540,EAW67541,EAW67542,CAA68445,BAB18615,AAF67622,AAK17898,BAA91262,BAD96348,BAD96505,BAF84756,AAH07276,AAH08907,AAH15699,AAH16179,AAH16660,AAH19816,P11142,Q53GZ6,Q53HF2,Q96BE0,Q96H53,Q96IS6,Q9NWW3,Q9NZ87,ABM82071,ABM85251 Hs.702021 GDB:568490 HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP1|MGC131511|MGC29929|NIP71 heat shock protein 8 protein-coding 1323451 HSPA9 heat shock 70kDa protein 9 (mortalin) The product encoded by this gene belongs to the heat shock protein 70 family which contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate proteins. This gene encodes a heat-shock cognate protein. This protein plays a role in the control of cell proliferation. It may also act as a chaperone. 1580863 16130169,12493773,7684501,18219256,17934217,17719568,17635236,17573779,17460192,17050040,16619038,16425258,16236267,16176931,15957980,15635413,15489334,15324660,14702039,12827241,12729798,12646231,12477932,12470827,11932435,11900485,11869473,11790298,11187902,10964507,10838077,10617616,10510314,9373149,9150948,8313870,8125298,8076819,7829505,7698336,1286669,12832005,7906708,16189514,14743216,12009301,16344560,16329989 3313 NM_004134,AC011385,AC113340,CH471062,DQ531046,AK023317,AK222758,AK225488,AU130219,BC000478,BC024034,BC030634,BX426279,CR599268,CR603588,CR618446,DQ185038,L11066,L15189 NP_004125,EAW62128,EAW62129,ABF50973,BAD96478,AAH00478,AAH24034,AAH30634,ABD14419,AAA67526,P38646,Q1HB43,Q2F839,Q53H23,Q8N1C8,ABZ92510 Hs.184233 GDB:626151 CSA|GRP75|HSPA9B|MGC4500|MOT|MOT2|MTHSP75|PBP74|mot-2 heat shock 70kda protein 9b (mortalin-2) protein-coding 1349371 HSPA9A heat shock 70kDa protein 9A (mortalin-1) 23707 GDB:10794643 1353927 HSPA9P heat shock 70kDa protein 9 pseudogene 9847074 266724 NG_002380,AC009302 HSPA9BP|hspa9bp heat shock 70kda protein 9b pseudogene pseudo 1350097 HSPAP1 heat shock 70kDa protein pseudogene 1 3001086 3314 NG_001144,M12119 GDB:120061 pseudo 732480 HSPB1 heat shock 27kDa protein 1 1580863 17949744,17928890,17916631,17915561,17823891,17673262,17650072,17623484,17622316,17616692,17597071,17576382,17570131,17522120,17446863,17353931,17350752,17342744,17277149,17254968,17213227,17206383,17202147,17081983,17004241,16964243,16935933,16923754,16916647,16906418,16840786,16790501,16624816,16598774,16574891,16565220,16487519,16436384,16407830,16400691,16368711,16340246,16339078,16240287,16215937,16169070,16126176,16114012,16097034,16087758,16039988,15976317,15969449,15952740,15806174,15790570,15728188,15662019,15649839,15581903,15542604,15489334,15302935,15274119,15272315,15265704,15122254,15122253,15013707,14715258,14594798,12917439,12897149,12855565,12853948,12838549,12740362,12506142,12489163,12482203,11003656,16130169,10859165,12493773,18344398,18167217,18167130,18089808,18031542,18007587,17974989,12477932,12100179,12087068,11836590,11779227,11740592,11700327,11546764,11528513,11342557,11193028,11158571,11042204,10980706,10777697,10751411,10421803,9628874,9344682,9110174,8774846,8619474,8325890,7799959,3714473,2743305,2295696,2243808,1763035,1730670,1602151,1560006,1332886,15692053 3315 NM_001540,AC006388,CH471220,DQ379985,L39370,AB020027,AL050380,BC000510,BC012292,BC012768,BC014920,BC073768,BT019888,CR407614,CR536489,CR591310,CR603713,CR605148,CR606208,CR607252,CR608836,S74571,U90906,X16477,X54079 NP_001531,EAW71803,ABC88475,AAA62175,BAB17232,AAH00510,AAH12292,AAH12768,AAH14920,AAH73768,AAV38691,CAG28542,CAG38728,AAB20722,AAB51056,CAA34498,CAA38016,P04792,Q96C20,Q96EI7,Q9UC35,ABM82230,ABM84275,ABM85415,ABM87668 Hs.520973 GDB:127602 CMT2F|DKFZp586P1322|HMN2B|HS.76067|HSP27|HSP28|Hsp25 protein-coding 731772 HSPB2 heat shock 27kDa protein 2 70771,1580863 9490724,14594798,9344664,15489334,14963027,14729728,12897149,12832059,12829720,12748284,12705895,12700631,12611892,12510153,12503731,12477932,12473058,11926998,11697892,11313745,10625651,9687510,8227983,17916352,16598774 70771 3316 NM_001541,AP000907,AY208910,CH471065,EF444955,EF444984,U75898,AB096250,AK293041,BC109393,CR457408,D89617,S67070 NP_001532,AAO18081,EAW67168,EAW67169,ACA05948,ACA06000,AAB82757,BAF85730,AAI09394,CAG33689,BAA24004,AAB28816,Q16082 Hs.97013 GDB:9786193 HSP27|Hs.78846|LOH11CR1K|MGC133245|MKBP protein-coding 68484 HSPB3 heat shock 27kDa protein 3 1302323,1580863 8972725,9858786,16225851,16169070,12477932,10625651 1302323 8988 NM_006308,AC092366,CH471123,BC126272,BC132869,CR450314,U15590,Y17782 NP_006299,EAW54893,AAI26273,AAI32870,CAG29310,AAD05360,CAA76848,Q12988,Q6ICS9 Hs.41707 GDB:7016792 HSPL27 protein-coding 1343256 HSPB6 heat shock protein, alpha-crystallin-related, B6 HSPB6 is associated with actin (see MIM 102540) and modulates smooth muscle relaxation (Tessier et al., 2003 [PubMed 12842460]).[supplied by OMIM] 1580863 16225851,17109079,17084643,15489334,15057824,14717697,14702039,12842460,12820654,12477932,8195168,1602151 126393 NM_144617,AC002398,AJ278121,AK056951,BC068046,CR603021,CR607202,CR618274 NP_653218,AAB81196,CAC81952,BAB71323,AAH68046,O14558,Q8IVN0 Hs.534538 FLJ32389|Hsp20 protein-coding 736091 HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular) 61631,1580863 10593960,16710414,16189514,15489334,14702039,12477932,14594798 61631 27129 NM_014424,AL096775,AL355994,CH471167,AF155908,AJ243191,AK057295,AK075151,AK092275,AK095911,AL832181,BC006319,BX537990,CR749298,CR749419 NP_055239,CAB86671,CAI16133,CAI16134,CAI16135,CAI16136,EAW51760,EAW51761,EAW51762,AAF20022,CAB63258,BAC03846,AAH06319,CAD97949,CAH18153,CAH18260,Q5T5Q0,Q5T5Q1,Q5T5Q2,Q68DG0,Q7Z3C1,Q8N241,Q9UBY9,ABM83642,ABM86892,ABW03834 Hs.502612 GDB:10795905 DKFZp779D0968|FLJ32733|cvHSP protein-coding 1346187 HSPB8 heat shock 22kDa protein 8 1580863 14594798,10833516,11256614,18229450,18094623,18006821,18006506,17922839,17722063,17304582,17173073,17033167,16935933,16795043,16709864,16485107,16225851,16189514,15879436,15541337,15498874,15489334,15122253,15021985,14702039,12832417,12477932,12456486,11816564,11591653,11470154,11342557,11295034,11230166,11180006,11085516,10777663,8817349,8433103,7125978,5813127,3789668,3022865,1517763 26353 AC084880,CH471054,AF133207,AF191017,AF217987,AF250138,AK001825,AL136936,BC002673,BT006876,CR533453,CR590762,CR591785,NM_014365,CR594671,CR597922,CR599692,CR604459,CR607849,CR608992,CR611633,CR611944,CR612820,CR613252,CR614248,CR614666,CR616260,CR617456,CR621727 NP_055180,EAW98144,AAD55359,AAF09481,AAG17230,AAF65562,CAB66870,AAH02673,AAP35522,CAG38484,Q9UJY1,ABM87403,ABW03880 Hs.400095 CMT2L|DHMN2|E2IG1|H11|HMN2|HMN2A|HSP22 protein-coding 1319285 HSPB9 heat shock protein, alpha-crystallin-related, B9 1580863 15503857,15489334,14702039,12820654,12477932,11470154,5503857 94086 NM_033194,AC105024,AJ302068,CH471152,AK093488,AK130947,BC093991,BC093993 NP_149971,CAC35727,EAW60804,AAH93991,AAH93993,Q9BQS6 Hs.620611 FLJ27437 protein-coding 1352308 HSPBAP1 HSPB (heat shock 27kDa) associated protein 1 17568411,14702039,12477932,11978969 79663 CR617201,NM_024610,AC048348,CH471052,AF400663,AK026276,AK096705,AK289410,BC011897,BC017763,BC063629,CR598288 Q96EW2,Q9H641,ABM83992,ABM87318,NP_078886,EAW79463,EAW79464,EAW79465,EAW79466,AAM64044,BAB15425,BAC04847,BAF82099,AAH11897,AAH17763,AAH63629 Hs.29169 GDB:11508848 FLJ22623|FLJ39386|PASS1 protein-coding 1347241 HSPBL1 heat shock 27kDa protein-like 1 2538929 3317 GDB:120062 1354470 HSPBL2 heat shock 27kDa protein-like 2 2538929 3318 GDB:120063 1345010 HSPBL3 heat shock 27kDa protein-like 3 2538929 3319 XM_293276 GDB:120064 734029 HSPBP1 hsp70-interacting protein 9830037,16169070,18261988,17855353,17208201,16950797,16713569,16677834,16303743,16189514,16169850,15694338,15489334,15215316,14761400,14702039,14503850,12651857,12477932,12417338,10786638,9727490 23640 NM_012267,AC008974,AC116338,AC116342,CH471135,CQ783429,AB020592,AF093420,AF187859,AF217996,AK075293,AK129755,AK130636,AK130781,BC001236,BC002373,CR457118,CR590595,CR596554,CR599157,CR600655,CR604616,CR605388,CR606031,CR606354,CR608022,CR608420,CR608487,CR609194,CR614475,CR615211,CR615309,CR615864,CR617551,CR618161,CR619038,CR619558,CR620558,CR620770,CR621049,CR625784 NP_036399,EAW72355,EAW72356,EAW72357,EAW72358,CAF86633,BAB18742,AAC79703,AAF35833,AAG17238,BAC85399,AAH02373,CAG33399,Q9NZL4,ABM84496,ABM85350,ABW03719,AAH01236 Hs.53066 protein-coding 1601729 HSPC105 NAD(P) dependent steroid dehydrogenase-like 12477932,8889548 93517 NM_145168,AC092142,CH471114,AF161368,AK026740,BC019670,BX482154,CB851753 NP_660151,EAW95521,EAW95522,EAW95523,AAF28928,AAH19670,Q8WUS8,ABM82212 Hs.87779 protein-coding 1605076 HSPC111 hypothetical protein HSPC111 15489334,12477932,12429849,11790298,11042152,10810093 51491 NM_016391,AC138956,CH471195,AF151019,AF151875,AF161460,AY561704,BC019331,BC032424,BC040106,CR457169,CR611555 NP_057475,EAW85083,EAW85084,EAW85085,AAF36105,AAD34112,AAF29075,AAS66977,AAH19331,AAH32424,AAH40106,CAG33450,Q05D05,Q6PIM0,Q9P0T8,Q9Y3C1 Hs.696283 HSPC185 protein-coding 1604820 HSPC152 hypothetical protein HSPC152 15231747,17353931,15635413,15489334,12477932,11042152,10931946 51504 CH471076,AF110774,AF161501,AF229068,BC017172,BC029482,BC105294,NM_016404,AP001453 EAW74251,EAW74252,EAW74253,AAF14857,AAF29116,AAF82266,AAH17172,AAH29482,AAI05295,Q9UI30,ABM83187,ABM86389,NP_057488 Hs.333579 protein-coding 1606012 HSPC159 galectin-related protein 11256614,17512496,16682780,16381901,15489336,12477932,11076863,11042152 29094 NM_014181,AC008074,CH471053,AF161508,AK025603,BC036082,BC062691,CR593568,CR625876,DR001728 NP_054900,EAW99942,EAW99943,AAF29123,AAH36082,AAH62691,Q3ZCW2,CAL38047 Hs.372208 GRP|MGC33751|MGC71953 protein-coding 1343669 HSPCAL4 heat shock 90kDa protein 1, alpha-like 4 1740332 3325 GDB:128599 1348479 HSPCP2 heat shock 90kDa protein 1, beta pseudogene 2 3328 GDB:4627416 733895 HSPD1 heat shock 60kDa protein 1 (chaperonin) This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Two pseudogenes, both located on chromosome 8, have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. 1624212,1580863,1624216,1624229,1624218,1624228,1624230,1624200,1624204,1581882,1624213,1624232,1624234,1624236,1624240,1624244,1624243,1624250,1624217,1624233,1624238,1624246 10205158,16130169,2568584,11445587,18372523,18322079,18320357,18240224,18229457,17925998,17915559,17823127,17715156,17675567,17670764,17588138,17553457,17420924,17420921,17206383,17202307,17174952,17075864,17072495,16978514,16964243,16887805,16843693,16767222,16705742,16482509,16320351,16254226,16253146,16236267,16215457,16148103,16116071,15957980,15952740,15879154,15784682,15763499,15661886,15635413,15592455,15590416,15546885,15529360,15489334,15324660,15251360,15249499,15242332,14500649,12965262,12942564,12890148,12869561,12813381,12768547,12686536,12665801,12611882,12594256,12552239,12515899,12493773,12483302,12477932,12461076,12406306,12387818,12218165,12215374,12195124,12105158,12070120,11932435,11898127,11888933,11862386,11860186,11803047,11790298,11689615,11591125,11488911,11337467,11230124,11145923,11144526,11050098,10960671,10811634,10731000,10677329,10632533,10499815,10467106,10449265,10382997,10326659,10231004,10231001,10205159,9890926,9724719,9150948,9150946,9051195,8979276,8976559,8882520,8845058,8689794,8678928,8676499,8671282,8559246,7911805,7907543,7895732,7518175,2907406,2079031,1980192,1972619,1602151,1516759,1347942,1286669,14634555,16075307,15875659,11777905,16189514 1624212,1624216,1624229,1624218,1624228,1624230,1624200,1624204,1581882,1624213,1624232,1624234,1624236,1624240,1624244,1624243,1624250,1624217,1624233,1624238,1624246 3329 M22382,M34664,NM_002156,AC010746,AC020550,AC114809,AF380943,AJ250915,CH471063,DQ217936,AU098504,BC002676,BC003030,BC047350,BC067082,BC073746,BG701476,BX647145,CR593187,CR599532,CR619688,CR621020,NM_199440 AAA60127,AAA36022,P10809,Q53QD5,Q53SE2,Q96RI4,Q9UCR6,ABM84340,ABM87770,NP_955472,NP_002147,AAX93145,AAY24018,AAK60260,CAB75426,EAW70148,EAW70149,EAW70150,EAW70151,EAW70152,EAW70153,ABB01006,AAH02676,AAH03030,AAH67082,AAH73746 Hs.595053,Hs.632539 GDB:126727 CPN60|GROEL|HSP60|HSP65|HuCHA60|SPG13 heat shock protein 60 (liver) protein-coding 1349707 HSPDP1 heat shock 60kDa protein 1 (chaperonin) pseudogene 1 1980192 3330 NG_001145,M34660 GDB:127879 HSP60P1 pseudo 1352375 HSPDP2 heat shock 60kDa protein 1 (chaperonin) pseudogene 2 1980192 645808 XR_016831,NG_001146,AC130365,M34662 Hs.646762 GDB:127880 HSP60P2 pseudo 1351221 HSPDP3 heat shock 60kDa protein 1 (chaperonin) pseudogene 3 1980192 3332 NG_001147,AC130360,M34661 GDB:127881 HSP60P3 pseudo 1353921 HSPDP4 heat shock 60kDa protein 1 (chaperonin) pseudogene 4 1980192 3333 NG_001148,M34663 GDB:127882 HSP60P4 pseudo 1344367 HSPDP5 heat shock 60kDa protein 1 (chaperonin) pseudogene 5 1980192 3334 GDB:128045 1346956 HSPDP6 heat shock 60kDa protein 1 (chaperonin) pseudogene 6 1980192 3335 GDB:127883 1347192 HSPDP7 heat shock 60kDa protein 1 (chaperonin) pseudogene 7 10830953 54047 NG_000920,AF227510 GDB:10796350 pseudo 733544 HSPE1 heat shock 10kDa protein 1 (chaperonin 10) 10205158,7916212,12483302,7698325,17419711,17278877,17072495,16979655,16502466,16253146,16169070,16100270,15978542,15816004,15635413,15590416,15546885,15489334,15059967,14525625,12970367,12967636,12860287,12703979,12477932,12387818,12220543,11898127,11689615,11210183,11050098,10763410,7914093,7912672,17353931 3336 U07550,X75821,AC020550,AF107894,AF109872,AJ250915,CH471063,BC023518,CR407688,CR625606,NM_002157 AAA50953,CAA53455,P61604,Q53X54,Q9UNM1,ABM83886,ABM87206,NP_002148,AAX93146,AAC95387,AAC96332,CAB75425,EAW70154,EAW70155,EAW70156,EAW70157,EAW70158,EAW70159,EAW70160,EAW70161,EAW70162,EAW70163,AAH23518,CAG28616 Hs.1197 GDB:385426 CPN10|GROES|HSP10 heat shock 10 kda protein 1 protein-coding 1354138 HSPEP1 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 1 140895 NG_001006,AL133419 GDB:11506149 bA101E14.1 pseudo 1350790 HSPEP2 heat shock 10kDa protein 1 (chaperonin 10) pseudogene 2 326300 NG_002552,AL136038 pseudo 1351428 HSPG2 heparan sulfate proteoglycan 2 Heparan sulfate proteoglycan is a major component of basement membranes, where the molecule may be involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. This form of HSPG, known as HSPG2 or perlecan, is encoded by a gene that maps to chromosome 1. The gene for the form of HSPG associated with the cell surface of fibroblasts has been mapped to human chromosome 8 (MIM 142460).[supplied by OMIM] 1624255,1624258,1624267,1624254,1624265,1580863 11956183,18024432,17356275,16984910,16914267,16620836,16407285,16335952,16283481,16269412,16129435,15905187,15657057,15567441,15240572,15211644,15081423,15031130,14974815,14973356,14702039,14630925,14625044,14563633,12900424,12811819,12754519,12477932,12435733,12036876,11968010,11941538,11847221,11847210,11493006,11279527,11148217,11101850,10702276,10579711,10545953,9733643,9692901,9688542,9431988,9313766,9307034,9136074,8541852,8234307,7500359,2745554,2687294,1730768,1685141,1679749,1569102 1624255,1624258,1624267,1624254,1624265 3339 AL445795,AL590103,AL590556,CH471134,U41286,AA507437,AB209851,AF479675,NM_005529,AI131329,AK126516,BC033152,BC109204,BG056875,CA407545,CD518822,CR621055,M64283,M85289,S76436,X62515 NP_005520,CAC18534,CAI12125,CAI12129,CAI12130,CAI12131,CAI12132,CAI12134,CAI12135,CAI12136,CAH71870,EAW94994,EAW94995,EAW94996,EAW94997,AAB95116,BAD93088,AAL79552,AAI09205,AAA52699,AAA52700,AAB21121,CAA44373,O43834,P98160,Q2VPA1,Q59EG0,Q5SZI5,Q5VU27,Q8TEU3 Hs.707982 GDB:126372 PLC|PRCAN|SJA|SJS|SJS1 heparan sulfate proteoglycan 2 (perlecan) protein-coding 1323157 HSPH1 heat shock 105kDa/110kDa protein 1 1580863 9931472,18083346,17081983,16964243,16232202,16083285,15489334,15345747,15057823,14733918,14534695,12853125,12749852,12558502,12477932,10865058,10772927,9675148,9610721,9039502,1602151,16189514,14563843 10808 NM_006644,AL137142,CH471075,AB003333,AB003334,AF039695,BC018124,BC037553,BX648125,BX648623,CD251908,D86956 NP_006635,CAI12425,CAI12428,CAI12429,CAI12430,EAX08477,EAX08478,EAX08479,EAX08480,EAX08481,EAX08482,BAA34779,BAA34780,AAC18044,AAH37553,BAA13192,Q92598,ABM82653,ABM85830 Hs.36927 DKFZp686M05240|HSP105|HSP105A|HSP105B|KIAA0201|NY-CO-25 protein-coding 732354 HTATIP HIV-1 Tat interacting protein, 60kDa The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. 1580863 15572661,15383276,16169070,17110330,10966108,8607265,18285460,18264029,18096664,17996965,17980166,17967892,17851107,17728759,17709392,17636029,17368826,17189186,17126496,16705183,16698308,16603769,16601686,16455055,16341205,16189514,16141325,16001085,15985650,15829968,15647280,15572685,15502158,15489334,15310756,15196461,15121871,15042092,15017382,14966270,12963728,12888553,12801643,12776177,12737628,12551922,12477932,12468530,12464179,12154097,12150997,12036595,12032152,11994312,11927554,11441186,11416127,11275565,11262386,11111051,10720489,10486269,10393559,10364196,10362352,10096020,9388189,9373149,8125298,11509179,11839798,10862698 10524 NM_006388,NM_182710,NM_182709,AP001266,AY214165,CH471076,AB209813,AK130717,AK225100,AK226002,BC000166,BC013211,BC064912,BC093032,BC117167,BG720537,BI463394,CR611711,CR623846,U40989,U67734,U74667 NP_006379,NP_874369,NP_874368,AAO21130,EAW74427,EAW74428,EAW74429,EAW74430,EAW74431,EAW74432,BAD93050,AAH00166,AAH64912,AAH93032,AAI17168,AAB02683,AAD00163,AAB18236,Q561W3,Q59EJ8,Q92993 Hs.528299 GDB:9957557 ESA1|HTATIP1|KAT5|PLIP|TIP|TIP60|cPLA2 hiv-1 tat interactive protein, 60 kd protein-coding 1320556 HTATIP2 HIV-1 Tat interactive protein 2, 30kDa 9482853,15282309,10611237,9174052,11313954,17997990,17097132,16799960,16615932,15728189,15633220,15493507,15489334,15342556,15124103,15073177,14695192,12477932,10892349,10698937,10395547,9373149,8125298 10553 NM_006410,NM_001098521,NM_001098520,NM_001098522,NM_001098523,AC025972,CH471064,AF039103,AF092095,AI193677,AK130473,AK222969,AK223010,AK292092,AW963626,BC002439,BC015358,BF681178,BP382529,CR456821,DB450790,U69161 NP_006401,NP_001091991,NP_001091990,NP_001091992,NP_001091993,EAW68337,EAW68338,EAW68339,EAW68340,EAW68341,AAC39694,AAC78331,BAD96689,BAD96730,BAF84781,AAH02439,AAH15358,CAG33102,AAB84360,Q9BUP3,ABZ92511 Hs.90753 GDB:9957640 CC3|FLJ26963|TIP30 protein-coding 1344524 HTATSF1 HIV-1 Tat specific factor 1 Whereas most DNA sequence-specific transcription factors increase the rate of initiation and interact with enhancer or promoter DNA, human immunodeficiency virus-1 (HIV-1) Tat predominantly stimulates elongation and interacts with the trans-acting responsive (TAR) RNA element. Tat is essential for HIV replication.[supplied by OMIM] 1580863 10454543,17353931,17081983,16565220,16512786,15905670,15772651,15564463,15489334,15485897,15345747,15050687,12477932,11780068,11420046,10964778,10913173,10393184,9765201,9710584,9649438,9373149,8849451,8125298,16189514 27336 NM_014500,CH471150,Z97632,AB209303,AK225870,BC009896,BT006886,U76992 NP_055315,EAW88468,EAW88469,CAB10730,CAI42403,CAI42404,BAD92540,AAH09896,AAP35532,AAB18823,O43719,Q5H918,Q5H919,ABW03796 Hs.204475 GDB:10796803 TAT-SF1|dJ196E23.2 protein-coding 1345521 HTATSF1P HIV TAT specific factor 1 pseudogene 387039 1351970 HTC1 hypertrichosis 1 (universalis, congenital) 3341 GDB:265286 1350965 HTC2 hypertrichosis 2 (generalised, congenital) 3342 GDB:700980 1604368 HTF9C HpaII tiny fragments locus 9C 15489334,15461802,14702039,12477932,10591208,18075473 27037 NM_022727,NM_182984,AC006547,CH471176,AI539558,AK025106,AK057029,BC013352,BC017184,BC108251,BI756672,BX349507,CR456354,CR592601,CR595584,CR608558,CR617494,CR625115 NP_073564,NP_892029,EAX02995,EAX02996,EAX02997,BAB15067,BAB71349,AAH13352,AAH17184,AAI08252,CAG30240,Q8IZ69 Hs.643452 MGC102728 protein-coding 1343388 HTL high L-leucine transport 6717430 3343 GDB:119323 1345515 HTLVR human T-cell leukemia virus (I and II) receptor 9330634,3201246 3345 GDB:120067 1353028 HTN1 histatin 1 1580863 16203048,3286634,8336540,17503797,15489334,12832472,12711380,12477932,12060866,11570863,10728974,8600179,3944083,2773933,2719677,2372245 3346 NM_002159,AC063956,CH471057,L04131,L04132,L05512,BC017835,CR627329,M26664 NP_002150,EAX05607,AAA02745,AAH17835,AAA58645,P15515 Hs.250959 GDB:120068 HIS1 protein-coding 1347774 HTN3 histatin 3 The primary protein encoded by HTN3 is histatin 3. Histatins are a family of small, histidine-rich, salivary proteins, encoded by at least two loci (HTN3 and HTN1). Post-translational proteolyitic processing results in many histatins: e.g., histatins 4-6 are derived from histatin 3 by proteolysis. Histatins are believed to have important non-immunological, anti-microbial function in the oral cavity. 1580863 16203048,3286634,8336540,17999963,17176059,15489334,15272024,14966203,12761219,12477932,12183519,11816973,11226423,11179305,10794615,10728974,8945538,7951254,3426601,2773933,2719677,2372245,2344289,2303595 3347 NM_000200,AC063956,CH471057,L05514,S74382,BC009791,BC095438,M18372,M26665 NP_000191,EAX05606,AAA02746,AAB32411,AAH09791,AAH95438,AAA51830,AAA58646,P15516,ABM83790,ABM87112 Hs.654442 GDB:125601 HIS2|HTN2|HTN5 protein-coding 1346030 HTOR 5-hydroxytryptamine (serotonin) oxygenase regulator 3349 GDB:119324 69020 HTR1A 5-hydroxytryptamine (serotonin) receptor 1A 737702,1580863,737704 9736659,1330092,3138543,18484082,18387740,18387137,18334271,18308786,18270970,18268499,18181968,18163385,18079067,17906010,17888419,17724868,17661792,17655760,17570737,17543959,17540717,17507923,17504248,17493586,17466494,17438519,17426452,17420412,17417740,17408646,17401528,17217240,17208318,17203973,17203304,17192951,17123166,17092965,17012696,17009264,16856120,16770336,16756688,16722981,16677618,16633140,16626484,16538182,16504134,16467535,16464220,16458487,16316476,16302021,16154547,16081372,15952185,15940302,15864118,15758168,15728438,15716853,15683551,15539859,15521063,15498580,15489334,15469667,15458611,15447813,15211620,15148501,15111672,15052272,15048689,14998306,14984628,14744462,14736842,14666415,14573316,14507979,12969265,12759158,12650852,12559389,12522576,12477932,12181435,12062903,11992564,11989622,11854302,11814436,11163544,11140838,9754630,8626793,8393041,7755630,3041227,2591972,2052135,1766875,1685484,1559993 737702,737704 3350 S64045,NM_000524,AB041403,AC122707,AJ781317,CH471137,M28269,M83181,X13556,X57829,Z11168,AF498978,AK291429,BC069159 AAD13945,P08908,Q5ZGX3,NP_000515,BAA94488,CAH03197,EAW51377,AAA36440,AAA66493,CAA31908,CAA40962,CAA77560,AAM21125,BAF84118,AAH69159 Hs.247940 GDB:120686 5-HT1A|5HT1a|ADRB2RL1|ADRBRL1 protein-coding 731005 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B The neurotransmitter serotonin (5-hydroxytryptamine; 5-HT) exerts a wide variety of physiologic functions through a multiplicity of receptors and may be involved in human neuropsychiatric disorders such as anxiety, depression, or migraine. These receptors consist of 4 main groups, 5-HT-1, 5-HT-2, 5-HT-3, and 5-HT4, subdivided into several distinct subtypes on the basis of their pharmacologic characteristics, coupling to intracellular second messengers, and distribution within the nervous system (Zifa and Fillion, 1992 [PubMed 1359584]). The serotonergic receptors belong to the multigene family of receptors coupled to guanine nucleotide-binding proteins.[supplied by OMIM] 1580863,1358660,1358661,1626449,1626447,1626451,1626450,1626470,1626473,1626445,1626453 17353931,1315531,1559993,1351684,18349694,18283276,18270970,18253134,18035351,17948897,17563839,17525973,17510950,17503984,17501935,17501853,17427194,17417740,17325714,17241828,17093889,17011639,16958036,16856120,16847428,16770336,16443280,16400147,16344719,16310769,11690602,11578619,11496363,11378847,11247661,11140838,11104852,8700126,8218242,7802650,1610347,1565658,1359584,1348246,1328844,16197923,15944142,15717291,15700286,15698927,15670397,15489334,15365222,15318027,15211620,15109354,15108179,14744462,14730192,14714219,14593427,14574404,14504413,12898580,12877392,12627464,12556913,12497617,12496953,12477932,12192616,12022963,11956970,11854302,11827742,11751038 1358660,1358661,1626449,1626447,1626451,1626450,1626470,1626473,1626445,1626453 3351 NM_000863,AB041370,AL049595,AY225227,CH471051,D10995,L09732,M75128,M83180,AK290080,BC069065,BC096206,BC096207,BC096208,M81590 NP_000854,BAA94455,CAB51537,AAO67712,EAW48722,BAA01763,AAA36030,AAA58675,AAA36029,BAF82769,AAH69065,AAH96206,AAH96207,AAH96208,AAA60316,P28222 Hs.123016 GDB:132312 5-HT1B|5-HT1DB|HTR1D2|HTR1DB|S12 protein-coding 736440 HTR1D 5-hydroxytryptamine (serotonin) receptor 1D 1580863 1565658,1652050,17940576,17501853,17203304,17099886,17068621,16806108,16710414,16059583,15489334,15109354,12740597,12650952,12627464,12477932,11854302,11140838,10391209,2541503,1662665,1315531,16189514 3352 NM_000864,AL049576,CH471134,M89955,AF498979,BC007720,BT007027,M81589 NP_000855,CAB81617,EAW95037,AAA35491,AAM21126,AAH07720,AAP35673,AAA60315,P28221,ABM84801,ABW03623 Hs.121482 GDB:132416 5-HT1D|HT1DA|HTR1DA|HTRL|RDC4 protein-coding 1350130 HTR1DP1 5-hydroxytryptamine (serotonin) receptor 1D pseudogene 1 8444354 3353 GDB:138784 1350220 HTR1E 5-hydroxytryptamine (serotonin) receptor 1E 1580863 17353931,1608964,1733778,18079067,14574404,12627464,12477932,15489334,10391209,9316030,8001977,1513320 3354 NM_000865,AB041373,AL157777,CH471051,M92826,Z11166,AF498980,BC069751,CR596923,CR618239,M91467 NP_000856,BAA94458,CAC10582,EAW48616,EAW48617,AAA58355,CAA77558,AAM21127,AAH69751,AAA58353,P28566 Hs.1611 GDB:134224 5-HT1E protein-coding 734005 HTR1F 5-hydroxytryptamine (serotonin) receptor 1F 70767,1580863 8380639,16856120,16254601,15489334,15190056,12627464,12477932,11916537,11888546,9632173,8384716,1328180 70767 3355 NM_000866,A74286,AB037533,AC119733,AC132004,CH471110,L04962,L05597,AF498981,BC069125,BC096838,BX357988 NP_000857,CAB58517,BAA90453,EAW68865,AAA36646,AAA36605,AAM21128,AAH69125,AAH96838,P30939,Q4QRI9,Q9P2Q4 Hs.248136 GDB:137170 5-HT1F|5HT6|HTR1EL|MR77 protein-coding 734107 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 1624376,1624367,1624370,1624371,1624393,1624369,1624392,1624374,1624375,1600503,1331525,1624379,1580863 17102980,17098333,17093889,17092965,17056873,17003810,17000047,16967466,16958038,16899354,16876316,16874005,16856120,16806099,16778329,16770336,16767413,16762472,16762419,16741915,16710319,16701945,16699051,16642436,16642354,16640790,16633140,16580628,16545942,16537434,16491645,16464220,16449821,16443280,16397402,16382194,16362639,16328014,16314884,16302021,16281377,16272956,16258205,16231475,16215954,16187138,16179957,16127283,16087994,15999344,15965969,15950062,15915764,15893580,17715398,17713649,17697394,17688403,17655760,17625040,17622759,17617023,17614196,17590256,17564514,17525976,17521439,17510953,17506229,17504248,17503984,17487576,17440930,17420819,17407792,17406648,17401157,17339524,17291660,17280648,17240119,17225991,17221846,17221840,17203304,18420180,18405062,18389501,18379473,18370802,18366104,18364387,18359159,18349694,18336767,18334271,18314859,18297054,18270970,18253134,18247315,18241316,18215653,18198266,18197272,18196244,18191318,18182772,18181968,18163387,18086475,18079067,18063936,18006541,17964050,17956758,17944104,17938636,17924589,17922252,17899021,17804117,17728663,15891581,14988405,14967409,14744462,14744461,14741324,14730199,14699448,14698468,14681967,14668201,14623359,14610521,14566344,14566219,14531760,14514498,14508013,12957335,12927326,12898571,12886034,12877392,12875919,12874600,12830506,12815744,12759158,12714112,17185512,15722960,15722953,15722190,15717291,15659047,15581469,15564892,15562295,15550673,15533210,15489334,15483560,15469201,15383158,15364038,15341275,15313842,15309313,15285608,15274035,15245785,15241435,15232358,15211639,15211529,15190056,15167698,15140279,15083167,15057823,15052272,15048655,15048642,15037867,15005715,15857569,15826503,9109547,18460771,18454098,18436425,15000807,12711403,12707936,12695524,12685303,12682061,12650952,12624948,12607287,12606842,12606840,12605580,12585698,12579508,12532038,12522576,12477932,12476319,12475403,12454564,12231269,12202283,12167522,12140776,12109966,12105278,12079891,12063151,12057029,11992560,11989622,11983190,11956670,11920859,11920858,11918989,11916537,11891796,11842624,11814537,11803534,11803452,11771315,11732859,11725820,11702058,11702051,11566166,11526996,11526993,11525423,11490436,11489292,11444684,11421130,11409694,11378836,11317230,11317228,11317227,11311507,11300730,11172633,11150294,11140838,11121203,11121202,11121191,11121184,10581480,10391209,9635956,9169451,9153397,9130948,8655141,8622505,8035173,2300586,2032718,1980030,1722404,1330647,1323014 1624376,1624367,1624370,1624371,1624393,1624369,1624392,1624374,1624375,1600503,1331525,1624379 3356 AB037513,AL136958,AL160397,CH471075,S42168,S50130,AA418604,AF498982,BC069356,BC069576,BC074848,NM_000621,BC074849,BC096839,BX647777,M86841,S71229,X57830,A23337 NP_000612,BAA90433,CAI12227,EAX08770,AAB22791,AAB24166,AAM21129,AAH69356,AAH69576,AAH74848,AAH74849,AAH96839,AAA58354,AAB31320,CAA40963,P28223,Q9P2Q9,CAA01675 Hs.654586 GDB:125192 5-HT2A|HTR2 1643282,1643520,2289411 BW199_H,BW259_H,BW193_H protein-coding 731795 HTR2B 5-hydroxytryptamine (serotonin) receptor 2B Multiple receptor subtypes of serotonin neurotransmitters with multiple physiologic functions have been recognized. The 5-HT-2 receptors mediate many of the central and peripheral physiologic functions of serotonin. Cardiovascular effects include contraction of blood vessels and shape changes in platelets; central nervous system effects include neuronal sensitization to tactile stimuli and mediation of hallucinogenic effects of phenylisopropylamine hallucinogens.[supplied by OMIM] 1580863 7926008,8143856,12761501,18079067,15815621,15608559,15489334,12767050,12477932,11916537,11877320,11859080,11150294,10734074,10722792,8786115,8621713,8078486,7582481 3357 NM_000867,AC009407,AF156160,CH471063,AY136751,BC063123,X77307,Z36748 NP_000858,AAX93128,AAD39259,EAW70949,AAN01277,AAH63123,CAA54513,CAA85319,P41595 Hs.421649 GDB:345020 5-HT(2B)|5-HT2B protein-coding 736842 HTR2C 5-hydroxytryptamine (serotonin) receptor 2C Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. This gene encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. 1358737,1624991,1624982,1624993,1625000,1358736,1624996,1624998,1580863,2292548 16433010,16382194,16258205,16195233,16157158,16021472,15953671,15935077,15927089,15864111,15772651,15717291,15695058,15666332,15635667,15581469,15562295,15551195,15518545,15489334,15381968,15318026,15313842,15309390,15304380,15241435,15167695,15147464,15109354,15102340,15052272,15048662,14722258,14699441,14602721,14574222,12877392,12858032,12759158,12707936,12682077,12767050,12668355,12650852,12627464,12518270,12477932,12454564,12425817,12192608,12145300,12111480,12086765,12007749,12006486,11988167,11916537,11888546,11526472,11525423,11502363,11343611,11300730,11205431,11150294,11140838,11140333,10816555,10581480,16319069,7700379,9241279,18460774,18389501,18336767,18303585,18270970,18211617,18205001,18192901,18086475,18083778,18079067,17964050,17901921,17767148,17728663,17702092,17697626,17632216,17625040,17558446,17291373,17275977,17192951,17102980,17098333,17055531,17039480,17016522,16959425,16914526,16857671,16770336,16741915,16682118,16633140,16464220,10391209,10206230,9928237,9537516,9153397,8812491,7895773,7557992,1722404,1302605 1358737,1624991,1624982,1624993,1625000,1358736,1624996,1624998,2292548 3358 BX648587,M81778,U49516,BC095543,NM_000868,AC004822,AC007022,AC007025,AL355812,AL590097,AL591402,CH471120,X80763,AF208053,AF498983,BC028688 AAH95543,AAA60317,AAB40898,P28335,NP_000859,AAC71658,CAI41334,CAI41335,CAH70192,CAH70193,EAX02623,EAX02624,CAB59978,AAF35842,AAM21130 Hs.149037 GDB:378202 5-HT2C|5-HTR2C|HTR1C protein-coding 731037 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. 7565620,18359159,18331431,18330705,18292429,18197086,18184810,18079067,17697394,17509016,17496724,17401153,17260949,17259209,17200121,17192651,17052218,17010535,16931691,16874005,16825485,16595668,16534507,16487942,16407231,16314763,16000636,15887114,15809299,15489334,15452106,15293096,15131114,15115912,15102340,14626451,14557147,12867984,12791692,12750374,12661769,12549905,12477932,12457738,12363396,12359150,12059035,11505217,11495540,11207027,10670426,9950429,9928262,8848005,8530095,8112471,16189514 3359 NM_000869,AJ005205,AP000908,CH471065,U73443,AF498984,AJ003078,AJ003079,AJ003080,BC002354,NM_213621,BC004453,BT007204,CR626153,D49394,S82612 NP_998786,NP_000860,CAA06442,EAW67237,EAW67238,EAW67239,EAW67240,AAB71736,AAM21131,CAA05851,CAA05852,CAA05853,CAA05854,AAH02354,AAH04453,AAP35868,BAA08387,AAB37533,P46098,Q7KZM7,Q9UE69,Q9UEP2,AAP36958,ABM82929,ABM86119 Hs.413899 GDB:142919 5-HT-3|5-HT3A|5-HT3R|5HT3R|HTR3 protein-coding 730958 HTR3B 5-hydroxytryptamine (serotonin) receptor 3B The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit B of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. 1580863 18079067,17697394,17010535,16874005,16534507,16487942,16314763,15887114,15389765,15293096,15115912,14557147,12867984,12775740,12750374,12363396,12359150,18187416,18184810,10521471,9950429,18389280,18300944 9177 NM_006028,AP001874,CH471065,AF080582,AF169255,AM293589 NP_006019,EAW67236,AAD12242,AAF03691,CAL25321,O95264,AAI41516 Hs.241377 GDB:9955173 5-HT3B protein-coding 1353896 HTR3C 5-hydroxytryptamine (serotonin) receptor 3, family member C The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. 1580863 15157181,14597179,12801637 170572 NM_130770,AC131235,CH471052,AF459285,BC131799 NP_570126,EAW78305,AAL66182,AAI31800,Q8WXA8 Hs.632579 protein-coding 1344328 HTR3D 5-hydroxytryptamine (serotonin) receptor 3 family member D The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes a subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. 14597179,12801637,12477932 200909 NM_182537,AC068644,AC131235,AJ437318,AY159812,BC101090,BC101091,BK001746 NP_872343,CAD24817,AAO38166,AAI01091,AAI01092,Q70Z44 Hs.448004 MGC119636|MGC119637 protein-coding 1347568 HTR3E 5-hydroxytryptamine (serotonin) receptor 3, family member E The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes a subunit E of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. An alternative splice variant has been described but its full length sequence has not been determined. 15157181,14597179,12801637,12477932 285242 NM_182589,AC131235,CH471052,AY159813,AY349352,AY349353,BC101182,BC101183,BC101184,BC101185,DQ644022,EU165354 NP_872395,EAW78304,AAO38167,AAQ93476,AAQ93477,AAI01183,AAI01184,AAI01186,ABG35128,ABW05298,A5X5Y0,Q495G2 Hs.449179 5-HT3c1|MGC120035|MGC120036|MGC120037 protein-coding 736061 HTR4 5-hydroxytryptamine (serotonin) receptor 4 This gene is a member of the family of serotonin receptors, which are G protein coupled receptors that stimulate cAMP production in response to serotonin (5-hydroxytryptamine). The gene product is a glycosylated transmembrane protein that functions in both the peripheral and central nervous system to modulate the release of various neurotransmitters. Multiple transcript variants encoding proteins with distinct C-terminal sequences have been described, but the full-length nature of some transcript variants has not been determined. 16102731,9603189,9276448,18359159,18322379,18270970,18079067,17603679,17572776,17509016,17418812,17379184,17377064,16563621,16322401,16209130,15950987,15925089,15919661,15896782,15825078,15710402,15575821,15489334,15118808,12898568,12855812,12519861,12477932,12446729,12399948,11989623,11750916,11716477,11406291,11218067,10683202,10646498,10220570,9724925,9371406,9351641,9349523,7656980 3360 NM_001040169,NM_199453,NM_001040171,NM_000870,NM_001040173,NM_001040172,NM_001040174,AC008627,AC011390,AC091971,AC114939,AJ243213,CH471062,AJ011371,AJ131724,AJ131725,AJ131726,AJ278979,AJ278980,AJ278981,AJ519673,AJ633645,BC074755,BC095497,DR000612,Y08756,Y09586,Y10437,Y12505,Y12506,Y12507,Y13584,Z48150,AJ278982 NP_001035259,NP_955525,NP_001035261,NP_000861,NP_001035263,NP_001035262,NP_001035264,CAB71316,EAW61799,EAW61800,EAW61801,EAW61802,EAW61803,EAW61804,CAA09600,CAC20411,CAC79533,CAC79538,CAC22248,CAC22249,CAC22250,CAC22251,CAD58392,CAG17627,AAH74755,AAH95497,CAA70002,CAA70774,CAA71462,CAA73107,CAA73108,CAA73109,CAA73911,CAA88167,Q13639,Q684M0,Q712M9,Q8IXH9,Q546Q1 Hs.483773 GDB:6381308 5-HT4|5-HT4R protein-coding 735325 HTR5A 5-hydroxytryptamine (serotonin) receptor 5A The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. 1580863 7988681,18253134,18079067,17203304,16701945,16516972,15921820,15581469,15489334,14702039,12930153,12853948,12690205,12627464,12558985,12477932,11916537,11343685,11317225,11287788,10779389,9847074,8978771 3361 AC092628,AC093726,CH236962,CH471149,X81411,X81412,AF498985,AK094255,BC112021,BC113468,BX538209,NM_024012 NP_076917,AAS07542,AAP21864,EAL23726,EAX04526,CAA57168,AAM21132,AAI12022,AAI13469,P47898,Q14D80,Q75LH0,Q86UN1 Hs.65791 GDB:453901 5-HT5A|MGC138226 protein-coding 69153 HTR5B 5-hydroxytryptamine (serotonin) receptor 5B 11343685 645694 XR_017010,XR_018853,NR_003947,AB065453,AC009404,AJ308679,AJ308680 GDB:5875369 5-HT5B|GPR134 pseudo 733226 HTR6 5-hydroxytryptamine (serotonin) receptor 6 729295,1580863,1358662 8522988,17189269,18253134,18197272,18079067,16770336,16701945,16682118,16640790,16633140,16094384,15896229,15823158,15737640,15531082,15489334,15482912,15048641,14741325,14698468,12650852,12627464,12618306,12579508,12477932,11916537,11889255,11888546,11725820,11524147,11287786,11163544,11140838,7656980,12057822,12023056 729295,1358662 3362 NM_000871,AL031727,CH471134,AB209129,AY429105,BC074995,BC074996,L41147,Z49119 NP_000862,CAI19020,EAW94896,BAD92366,AAR07900,AAH74995,AAH74996,AAA92622,CAA88929,P50406,Q59GI0,Q5TGZ1 Hs.22180 GDB:9772272 5-HT6|5-HT6R protein-coding 1346949 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. 1580863 10490701,9298538,9154233,9084407,7656980,7601444,8226867,8398139,18079067,17936759,17428232,17406648,17321075,16935469,16870886,16192982,15896881,15581469,15489334,15086532,14741325,12767050,12477932,12446729,11916537,11906971,11888546,11163544 3363 NM_019860,NM_000872,NM_019859,AL360011,CH471066,U68492,AK292606,AY493988,BC047526,L21195,U68487,U68488 NP_062874,NP_000863,NP_062873,CAH69965,CAH69966,CAH69967,CAH69968,EAW50118,EAW50119,EAW50120,AAB48397,AAF07217,AAF07218,BAF85295,AAR87480,AAH47526,AAC37538,AAB48393,AAB48394,P34969,Q5VX01,Q5VX02,Q5VX03,Q5VX04 Hs.73739 GDB:269830 5-HT7 protein-coding 1604760 HTR7P 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 9473718 93164 NR_002774,AC007688,AK125093,U86813 Hs.593282 pseudo 732659 HTRA1 HtrA serine peptidase 1 This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. 1580863 9852107,18436811,18362109,18316707,18301036,18207215,18206206,18164066,18162041,18161619,18156628,18079691,17962403,17904186,17884985,17718385,17692272,17679948,17568988,17438519,17426452,17292962,17094466,17072861,17053109,17053108,16767218,16650464,16377621,15917099,15855271,15231748,14973287,14716297,14702039,14500695,12513693,12477932,12242667,9344681,9110174,8977104,8619474 5654 NM_002775,AF157623,BX842242,CH471066,AF070555,AF097709,AI423369,AK091944,AK092476,AK290089,BC011352,BC031082,CR590731,CR593682,CR596858,CR597732,CR603877,CR605013,CR611805,CR613636,CR623030,CR624458,CR624921,D87258,Y07921 NP_002766,AAD41525,EAW49312,EAW49313,AAC97211,BAF82778,AAH11352,BAA13322,CAA69226,Q05DJ8,Q8N5Y7,Q92743,AAI56553 Hs.501280 GDB:6392572 ARMD7|HtrA|L56|ORF480|PRSS11 protease, serine, 11 protein-coding 1318943 HTRA2 HtrA serine peptidase 2 This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. 1580863 10873535,10644717,10971580,10995577,15044455,18060880,17718385,17684015,17311912,17266347,17130845,17043678,16968707,16713569,16413409,15961413,15815621,15489334,15328349,15294909,15236609,15201285,15200957,15036614,14645012,14605674,12835328,12815069,12477932,11967569,11803371,11801603,11606597,11604410,11583623,9373149,8125298,16189514,12865429,15300255 27429 NM_013247,NM_145074,AC005041,CH471053,AF020760,AF141305,AF141306,AF141307,AF184911,AK225932,AK291977,BC000096,BF939362,CR593199,CR606695,CR611201,CR611713,CR624436 NP_037379,NP_659540,EAW99617,EAW99618,EAW99619,EAW99620,EAW99621,AAB94569,AAF66596,AAF66597,AAF66598,AAG13126,BAF84666,AAH00096,O43464,ABM82748,ABM85935,ABW03759 Hs.469045,Hs.591563 GDB:11501223 OMI|PARK13|PRSS25 protease, serine, 25 protein-coding 1354015 HTRA3 HtrA serine peptidase 3 1580863 17962403,16650464,16251496,15489334,14500695,12513693,12477932 94031 NM_053044,AC113611,CH471131,AY040094,AY280665,AY280666,BC034390,BC035717,CR604057 ABM85297,NP_444272,EAW82345,EAW82346,AAK71475,AAP42282,AAP42283,AAH34390,AAH35717,P83110,ABM82114 Hs.479119 Prsp|Tasp protein-coding 1350689 HTRA4 HtrA serine peptidase 4 16303743,15489334,14702039,12477932,12408815 203100 NM_153692,AC108863,CH471080,CQ783299,AK075205,AY188774,BC057765,CR590249,CR601506 NP_710159,EAW63290,CAF86511,BAC11470,AAH57765,P83105 Hs.661014 FLJ90724 protein-coding 68472 HTT huntingtin Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. 1358375,1304431,1302537,1580863,1302572,1300048 11013077,11008591,10974549,10958656,10801775,10770929,10441327,10434301,10410676,10332029,9809064,9700202,9668110,9599014,9535906,9454836,9147654,9079622,8702625,8612237,8458085,8197474,7951324,7903579,7759106,7647777,1302016,12881483,12456676,15383276,15996546,15936278,15603740,11468270,14713958,11319238,15064418,15225551,12204002,12191472,12135980,12062094,11988536,11973620,11971872,11939977,11906693,11870213,11854752,11839795,11807410,11792860,11788820,11745989,11739372,11738012,11642542,11595021,11487199,11461154,11442349,11432963,11379408,11264541,11172033,11149616,11137014,11121205,11105061,11092755,11063258,11035034,14714490,14657499,14617779,14572927,14570907,14570710,14527999,12956863,12952868,12873381,12824708,12810713,12807877,12799135,12784292,12783847,12682342,12657678,12604778,12569151,12555240,12548366,12477932,12466534,12427879,12393793,12393306,12354780,17409200,17403029,17361007,17299753,17276991,17240517,17208201,17201528,17189290,17161366,17151278,17141218,17135277,17126554,17124493,17115386,17012230,16973623,16968735,16835690,16782707,16777606,16729030,16606912,16595690,16522639,16473015,16452635,16417581,16391387,16365166,16324236,16286508,16278683,16204350,16192271,16183657,7568002,7477378,10823891,8696339,7774020,9778247,10353249,15837803,18400894,18337408,18255062,18157708,18091069,18078716,18068007,18063376,18029446,18006506,17989880,17975550,17952586,17948889,17947297,17941857,17902043,17708681,17687393,17660463,17611284,17610899,17548833,17519223,17500595,17433700,16162412,16115812,16115810,16085648,16006135,15994095,15951191,15916486,15911879,15890517,15843398,15832309,15815621,15809304,15717026,15716522,15689617,15654337,15610167,15496672,15468075,15359012,15351733,15340079,15338298,15316797,15312898,15273431,15261377,15240759,15163634,15140196,15140195,15032971,14985437,14978262,14743370,12354289 1358375,1304431,1302537,1302572 3064 NM_002111,AL390059,CH471131,L27416,L34020,Y07983,Z49154,Z49155,Z49769,Z69837,AB016794,AB209506,AK025918,AK290544,BC014028,L12392,L20431 NP_002102,EAW82474,EAW82475,EAW82476,EAW82477,EAW82478,CAA89024,CAA89025,CAA89839,BAA36753,BAD92743,BAF83233,AAB38240,AAA52702,P42858,Q59FF4 Hs.518450 GDB:119307 HD|IT15 huntington disease gene homolog protein-coding 1346871 HTX2 heterotaxy 2 (autosomal dominant) 7747776 3348 GDB:567345 1344314 HUNK hormonally upregulated Neu-associated kinase 1580863 10662544,17203973,15575376,11129044,10830953 30811 AP000258,AP000259,AP000260,CH471079,AF086072,AJ271722,NM_014586,AP000256,AP000257 EAX09883,CAB71146,P57058,AAI56533,NP_055401 Hs.109437 GDB:11501922 protein-coding 1318030 HUS1 HUS1 checkpoint homolog (S. pombe) The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. 1580863 10359610,10846170,10884395,9878245,9872989,12791985,18156970,17855402,17583730,17493829,17395641,16814252,16731526,16216273,15897895,15871698,15556996,15489334,15314187,15122316,14611806,14500360,12690205,12578958,12477932,12228248,11944979,11920544,11907025,11573955,11077446,10852904,10777662,9828130,9524127,16189514,17353931 3364 Y16893,AC069282,AF503165,CH236958,CH471128,AF076844,AF110393,AJ227901,AK290459,BC007013,BG286955,BT019481,BT019482,NM_004507,CR536552,CR619988 CAA76518,O60921,NP_004498,AAM18968,EAL23807,EAW61001,EAW61002,AAC95526,AAD25350,BAF83148,AAH07013,AAV38288,AAV38289,CAG38789 Hs.152983 GDB:9955007 protein-coding 1346290 HUS1B HUS1 checkpoint homolog b (S. pombe) The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. 15489334,14611806,14574404,14500360,12477932,11944979 135458 NM_148959,AL357054,CH471087,AF508547,AI446694,BC101697,BC101699 NP_683762,CAI15190,EAW55063,AAM28904,AAI01698,AAI01700,Q8NHY5 Hs.669039 MGC126746|MGC126748|RP11-532F6.1 protein-coding 1343412 HUWE1 HECT, UBA and WWE domain containing 1 15989956,15989957,15767685,18252223,17567951,17081983,16964243,16269333,16213503,15772651,15567145,15489334,15302935,14702039,12477932,11042152,10998601,10997877,9373149,9205841,8125298,7968380,7478539 10075 AL592046,CH471154,CS228272,Z94044,Z97054,AB002310,AB071605,AF057569,AF161390,AK056671,AK091352,AK223167,AL162050,AY772009,AY929612,BC002602,BC018750,BC038184,BC063505,BC072421,NM_031407,BC107576,CR456813,CR620443,DQ097177 NP_113584,EAW93160,EAW93161,EAW93162,EAW93163,EAW93164,EAW93165,EAW93166,CAJ47378,CAI42351,CAI42352,CAI42353,CAI42354,CAI42644,CAI42654,CAI42656,BAA20771,BAC06833,AAC62492,AAF28950,BAD96887,CAB82393,AAV90838,AAX24125,AAH02602,AAH18750,AAH38184,AAH63505,Q53FW4,Q5H924,Q5H935,Q5H962,Q5H963,Q7Z6Z7,Q8IWJ0,Q9NXW1,AAI07577,CAG33094,AAY98258,Q3B7K0 Hs.136905 ARF-BP1|HECTH9|HSPC272|Ib772|KIAA0312|LASU1|MULE|RP3-339A18.4|UREB1 protein-coding 1351495 HV1S herpes simplex virus type 1 sensitivity 1034214 3365 GDB:9955009 1353766 HVBS4 hepatitis B virus integration site 4 3016335 3367 GDB:120070 1345845 HVBS6 hepatitis B virus integration site 6 2847975 3368 GDB:120687 1349150 HVBS7 hepatitis B virus integration site 7 3369 GDB:120071 1352470 HVBS8 hepatitis B virus integration site 8 2845134 3370 AC005375 GDB:120072 protein-coding 1603943 HVCN1 hydrogen voltage-gated channel 1 HVCN1 is a voltage-gated proton channel highly expressed in immune tissues. Channels like HVCN1 mediate the proton conductances required by phagocytic leukocytes for the oxidative burst that underlies microbial killing (Ramsey et al., 2006 [PubMed 16554753]).[supplied by OMIM] 16554753,16556803,17948262,16344560,15342556,12975309,12477932 84329 NM_001040107,NM_032369,AC144522,CH471054,AY359054,BC007277,BC009731,BC032672,BP369986,BP375483,CR596429,DB310328 NP_001035196,NP_115745,EAW97933,EAW97934,EAW97935,EAW97936,EAW97937,AAQ89413,AAH07277,AAH09731,AAH32672,Q6UW11,Q96D96,Q96IS5 Hs.211511,Hs.334637 HV1|MGC15619|VSOP protein-coding 1352194 HYAL1 hyaluronoglucosaminidase 1 This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. 1599811,1580863 9223416,17503783,17502371,17415544,17227790,17145867,16713680,16641997,15489334,14702039,12845686,12684632,12477932,12084718,11929860,10702795,10339581,9503017,9409739,8793927,8603390 1599811 3373 AK097287,AK290816,BC025774,BC035695,CR541933,CR592113,CR602123,U03056,U96078,NM_153281,NM_153282,NM_033159,NM_153283,NM_153285,NM_007312,AC002455,CH471055,U73167,U90094,AF118821,AF173154,AF502904,AF502905,AF502906,AF502907,AF502908 BAF83505,AAH25774,AAH35695,CAG46731,AAD09137,NP_695013,NP_695014,NP_149349,NP_695015,NP_695017,NP_009296,AAB67046,EAW65083,EAW65084,EAW65085,EAW65086,EAW65087,EAW65088,EAW65089,EAW65090,EAW65091,AAC02730,AAD24460,AAD53277,AAM60770,AAM60771,AAM60772,AAM60773,AAM60774,AAD04190,Q12794,ABM85009,ABW03328 Hs.75619 GDB:7218404 HYAL-1|LUCA1|MGC45987|NAT6 protein-coding 733698 HYAL2 hyaluronoglucosaminidase 2 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. Varying functions have been described for this protein. It has been described as a lysosomal hyaluronidase which is active at a pH below 4 and specifically hydrolyzes high molecular weight hyaluronan. It has also been described as a GPI-anchored cell surface protein which does not display hyaluronidase activity but does serve as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR. 1580863 9712871,17229709,16837837,16641997,15923194,15596803,15489334,14702039,12684632,12676986,12584308,12477932,12174938,11731268,11296287,11085536,10989127,9933825,9790770,9373149,9110174,8619474,8603390,8125298 8692 NM_003773,NM_033158,AC002455,CH471055,AF070608,AJ000099,AJ844619,AK092449,AK127945,AK225635,BC000692,CR592783,CR595904,CR596831,CR597406,CR597868,CR601925,CR602763,CR606405,CR609590,CR609703,CR612024,CR616710,CR619200,CR623761,U09577 NP_003764,NP_149348,AAB67045,EAW65092,EAW65093,EAW65094,AAC28656,CAA03924,CAH59903,AAH00692,AAC62823,Q12891,Q5ZF00,ABM84764,ABW03621 Hs.76873 GDB:9956326 LUCA2|LuCa-2 hyaluronidase 2 protein-coding 1344724 HYAL3 hyaluronoglucosaminidase 3 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. 1580863 16641997,15489334,12684632,12477932,12084718,11929860,10493834,10339581 8372 NM_003549,CH471055,U73167,U90094,AF036035,AF040710,AF502909,AF502910,AF502911,AF502912,BC005896,BC012892,BC051750,CR608020,CR621832 NP_003540,EAW65071,EAW65072,EAW65073,EAW65074,EAW65075,EAW65076,AAC02729,AAD04257,AAC70915,AAM60775,AAM60776,AAM60777,AAM60778,AAH05896,AAH12892,O43820,ABM82218,ABM85402 Hs.129910 GDB:9864928 LUCA-3|LUCA14|LUCA3|Minna14 protein-coding 1347409 HYAL4 hyaluronoglucosaminidase 4 This gene encodes a protein which is similar in structure to hyaluronidases. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. However, this protein has not yet been shown to have hyaluronidase activity. 10493834,12477932,10989127,10737800,9847074 23553 NM_012269,AC006029,CH236947,CH471070,AF009010,BC104788,BC104790,BF085228,BG013757 NP_036401,AAD43186,EAL24331,EAW83603,AAC98883,AAI04789,AAI04791,Q2M3T9 Hs.28673 GDB:10794888 protein-coding 1346836 HYALP1 hyaluronoglucosaminidase pseudogene 1 12690205,10493834 26062 NR_002731,AC006029,CH236947,AF149304 EAL24332 Hs.381305 GDB:11500458 pseudo 1352418 HYD2 hypodontia, autosomal recessive (2) 9529357 8137 GDB:9848886 1347981 HYDIN hydrocephalus inducing homolog (mouse) 634487 16938426,14702039,12719380,12477932,11347906 634487 54768 NM_032821,NM_017558,AC027281,AC099495,AC138625,CH471166,AK022933,AK026688,AK057467,AK074472,AL122038,AL133042,AL137259,AL705531,BC028351,BC043273,CR611620 NP_116210,NP_060028,EAW59249,BAB14314,BAB15527,CAB59178,CAB61370,CAB70660,AAH28351,AAH43273,Q4G0P3 Hs.461229,Hs.669795 DKFZp434D0513|DKFZp434L0850|FLJ12871|FLJ14665|HYDIN1|KIAA1864 hydrocephalus inducing protein-coding 1605738 HYDIN2 hydrocephalus inducing homolog 2 (mouse) 16938426,15616553,15489334,14702039,11347906 790898 XM_001717859,AC109135,AB058767,AK027571,AL833826,AL834340 XP_001717911,BAB47493,BAB55207,CAD38687,CAD39007,Q4G0P3 Hs.461229 KIAA1864 protein-coding 1601737 HYI hydroxypyruvate isomerase homolog (E. coli) 16189514,14702039,12477932,10561547 81888 AL583862,CH471059,AF284750,AF284751,AK096244,AY037165,AY775560,BC006140,BC019041,NM_031207 AAH19041,Q5T013,Q5T014,NP_112484,CAI14889,CAI14890,CAI14891,CAI14892,CAI14893,EAX07090,EAX07091,EAX07092,EAX07093,EAX07094,AAG59852,AAG59853,AAK67642,AAV84474,AAH06140 Hs.709864 HT036|MGC20767|RP11-506B15.5 protein-coding 1606679 HYLS1 hydrolethalus syndrome 1 15843405,14702039,12477932,10486328 219844 NM_145014,AP000842,CH471065,AK057477,AK127394,BC015047,CR593293,CR599589,CR610025,CR617648,CR625776 NP_659451,EAW67665,EAW67666,BAB71503,AAH15047,Q96M11 Hs.585071 FLJ32915|HLS protein-coding 1345477 HYMAI hydatidiform mole associated and imprinted 16928428,16873690,15286800,12477932,11935319,10936046 57061 NR_002768,AL109755,AF241534,BC059359 Hs.657760,Hs.708759 GDB:10796493 miscrna 1606826 HYOU1 hypoxia up-regulated 1 The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment is found at the 5' end of the first exon, and is involved in stress-dependent induction. A transcript that is produced from a downstream start site is preferentially induced by hypoxia, resulting in the accumulation of this protein in the endoplasmic reticulum (ER). The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. 17353931,9020069,17481612,17330988,17131193,16543725,16335952,16263699,15952740,15342556,15240565,12754519,12553534,12477932,11690552,11231630,10965054,10837345,10037731,9645760,9373149,9006956,8878445,8125298 10525 NM_006389,AB009979,AP003392,CH471065,EF444986,AA580314,AK127324,AK222756,AK307624,AK314178,BC004560,BC017726,BC072436,BE733065,BE791468,BP358970,CR600509,CR601394,CR749610,DQ350134,DQ372932,U65785 NP_006380,BAF80348,EAW67440,EAW67441,EAW67442,EAW67443,ACA06002,BAD96476,BAG36860,AAH04560,AAH17726,AAH72436,CAH18405,ABC75106,ABD14370,AAC50947,Q05D91,Q68D25,Q6IN67,Q9BST8,Q9Y4L1 Hs.277704 GDB:9957561 DKFZp686N08236|FLJ94899|FLJ97572|HSP12A|ORP150 protein-coding 1604376 HYPK Huntingtin interacting protein K 9700202,17947297,16950395,14702039,12477932,11042152 25764 NM_016400,AC018512,CH471082,AF049613,AF161485,AF370428,AK022435,AK094716,BC019262 NP_057484,EAW77241,EAW77242,AAC26849,AAF29100,AAQ15264,AAH19262,Q71RB0,Q9NX55 Hs.631692 HSPC136 protein-coding 1605825 IAH1 isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 14702039,12477932 285148 NM_001039613,AC080162,CH471053,AK092982,AK291984,BC019061,BC039709,BC059410,BC067865,BC111025,CR621865 NP_001034702,EAX00983,BAF84673,AAH19061,AAH59410,AAH67865,AAI11026,Q05D21,Q2TAA2,Q6NVV8,Q6PCA9 Hs.700710 MGC102860 protein-coding 737044 IAPP islet amyloid polypeptide Islet, or insulinoma, amyloid polypeptide (IAPP, or amylin) is commonly found in pancreatic islets of patients suffering diabetes mellitus type II, or harboring an insulinoma. While the assosciation of amylin with the development of type II diabetes has been known for some time, a direct causative role for amylin has been harder to establish. Recent results suggest that amylin, like the related beta-amyloid (Abeta) assosciated with Alzheimer's disease, can induce apoptotic cell-death in particular cultured cells, an effect that may be relevant to the development of type II diabetes. 1580863 8152488,2608057,10342886,18408164,17911343,17804609,17722920,17660321,17617411,17563070,17495860,17475933,17353506,17213278,17212787,17123962,16950544,16866369,16804082,16531504,16403520,16331989,16303136,16204373,16142909,15983227,15929864,15878744,15811365,15778964,15710403,15638806,15527771,15522881,15358791,15342243,15321714,15292167,14659752,14656003,14613923,14578294,14532296,12767835,12717720,12717671,12706321,12706318,12679865,12611974,12589759,12588049,12540610,12477932,12441106,12367525,12298020,12221327,12086946,11979402,11786016,11318791,11246872,11145957,11076863,10931181,10385705,9794116,9115263,8845235,8772735,8771910,8605675,8557106,8468047,8307253,7929615,3535798,3317417,3181427,3053705,3035556,2690069,2651160,2546670,2365085,2223885,2189768,2039456,1282806 3375 X68830,DQ516082,J04422,X14904,X14905,NM_000415,AC006559,CH471094,M21785,M26650,M27503,X13859,X14902,X14903,X52818,X52819,X55634,X56030 CAA48724,ABG27010,AAA52281,CAA33032,CAA33033,P10997,Q0ZD87,AAI11850,NP_000406,EAW96426,EAW96427,AAA51728,AAA35983,AAA35524,CAB57803,CAA33031,CAB57804,CAA37002,CAA39504 Hs.46835 GDB:120074 AMYLIN|DAP|IAP protein-coding 1317850 IARS isoleucyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Two alternatively spliced variants have been isolated that represent alternate 5' UTRs. 1580863 7721108,16344560,15164053,12477932,9878398,9556618,9466989,8816763,8812440,8052601,1651330,17353931,14743216 3376 NM_002161,NM_013417,AL136097,CH471089,AB209234,AF113680,AK057920,AK293014,BC008318,BC065552,BX537417,BX537429,BX538109,BX647071,BX647236,BX647430,BX648567,CR608663,D28473,DA335066,U04953 NP_002152,NP_038203,CAI16197,CAI16198,CAI16199,CAI16200,CAI16201,CAI16202,CAI16203,EAW62809,EAW62810,EAW62811,EAW62812,EAW62813,BAD92471,AAF29582,BAF85703,AAH08318,AAH65552,CAD97659,CAD97671,CAD98022,BAA05835,AAA80153,P41252,Q59G75,Q5TCC4,Q5TCC6,Q5TCD1,Q6P0M4,Q7L4K8,Q7Z355,Q7Z3T4,Q7Z3U5,Q9P1N9 Hs.445403 GDB:384085 FLJ20736|IARS1|ILRS|PRO0785 isoleucine-trna synthetase protein-coding 1604336 IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 17081983,16710414,15489334,14702039,12477932 55699 NM_018060,AC103590,CH471100,AK001188,AK001726,AK022665,AK291432,AY267462,AY952883,BC010218,BC040376,BC047880,BC137438,BI459732,BM149097,CR606160,CR621413,CR622315,D28500 NP_060530,EAW93305,BAA91544,BAB14164,BAF84121,AAP94033,AAH10218,AAH40376,AAH47880,AAI37439,BAA95147,Q9NSE4 Hs.262823 FLJ10326 protein-coding 1345507 IBD2 inflammatory bowel disease 2 8841195,9634527 3378 GDB:9862187 1348870 IBD3 inflammatory bowel disease 3 10577918 30829 GDB:11500460 1345387 IBD4 inflammatory bowel disease 4 10747815 50608 GDB:10796181 1346937 IBD5 inflammatory bowel disease 5 10777714 50941 GDB:10796352 1350571 IBD6 inflammatory bowel disease 6 10777714 50942 GDB:10796354 1352590 IBD7 inflammatory bowel disease 7 10814724,9636179 57042 GDB:11500462 1348016 IBD8 inflammatory bowel disease 8 170595 1351354 IBD9 inflammatory bowel disease 9 12354785 317669 1349696 IBGC1 idiopathic basal ganglia calcification 1 10441584 23706 GDB:10450404 1345945 IBM3 inclusion body myopathy 3, autosomal dominant 10205275,9708547 3380 GDB:9835723 735575 IBSP integrin-binding sialoprotein (bone sialoprotein, bone sialoprotein II) The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. 1580863 18302613,17956871,17213971,17050866,16995818,16000302,15795688,14524533,12750290,12477932,11979972,11968014,11459848,11076863,8406493,8401509,8061918,3597437,2461939,2404984 3381 NM_004967,AC093768,CH471057,CS025624,L09554,L09558,L24756,L24759,AA452255,AI751848,BQ573754,DV462680,J05213 NP_004958,EAX05998,EAX05999,EAX06000,CAI61689,AAA60549,AAC37560,AAC95490,P21815,AAI11921 Hs.518726 GDB:138129 BNSP|BSP|BSP-II|SP-II integrin binding sialoprotein protein-coding 1323289 IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase The protein encoded by this gene binds to Bruton's tyrosine kinase (BTK) and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. 17353931,17081983,15489334,14574404,12477932,11577348,10718198 25998 CR600707,DQ005633,DQ005634,DQ005635,NM_015525,AL050333,CH471051,AB037838,AF235049,AJ420588,AJ420593,AK123460,AK126777,AL050018,BC012551,BC027483,BC027490,BC035860,BC038244,BC042171,BC092410,BC112929,BC113696,BC113698,CB265364 AAY55906,AAY55907,AAY55908,Q9P2D0,NP_056340,CAI23414,CAI23416,EAW48685,EAW48686,EAW48687,EAW48688,BAA92655,AAG27170,CAB43239,AAH27490,AAH38244,AAH42171,AAI13697,AAI13699 Hs.306425 BTKI|KIAA1417|MGC142256|MGC142258|RP1-93K22.1 protein-coding 733652 ICA1 islet cell autoantigen 1, 69kDa This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863 17353931,12682071,8326004,16381901,16344560,15489336,15303579,12477932,12409289,12383988,11076863,10433084,9693970,9028728,8975715,8889548,8781774,8777998,8679127,8603775,8162706,7918678,7840858,7822811,7758883,7497880 3382 NM_022307,AC006042,AC007009,CH236948,L21181,U26591,U26592,U37183,U38260,CH471073,U71251,U71254,U71264,AA581444,AI346099,AK292106,BC005922,BC008640,BM716117,CR601104,CR605198,CR620744,CR624499,NM_004968,DB040266,L01100 NP_004959,NP_071682,AAD50515,AAA64927,AAB19033,AAB19034,AAC50935,AAC50936,Q05084,Q6LCR0,Q6LCT9,Q96HG3,Q9BRW3,Q9UDQ6,CAL37894,ABM82431,ABW03414,EAW93610,EAW93611,EAW93612,EAW93613,EAW93614,EAW93615,EAW93616,EAW93617,EAW93618,EAW93619,EAW93620,AAB94738,AAB94737,BAF84795,AAH05922,AAH08640,AAA02564 Hs.487561 GDB:134181 ICA69|ICAp69 islet cell autoantigen 1, 69 kda protein-coding 1346474 ICA1L islet cell autoantigen 1,69kDa-like 16344560,15815621,15489334,14702039,12477932,11586298 130026 NM_138468,NM_178231,AC010900,AC098831,AC131950,CH471063,AB053316,AB053317,AK055978,AK092310,AK124756,AL833904,BC000993,BC063876,BC093902,BC112235,DB097704,DB496884 NP_612477,NP_839945,AAY24286,AAY24091,AAY15007,EAW70313,EAW70314,EAW70315,EAW70316,BAB69024,BAB69025,BAB71062,CAD38760,AAH00993,AAH63876,AAH93902,AAI12236,Q8NDH6 Hs.516629 GDB:11508586 ALS2CR14|ALS2CR15|DKFZp434E1919|MGC138440 protein-coding 69659 ICAM1 intercellular adhesion molecule 1 (CD54), human rhinovirus receptor ICAM1 (CD54) is typically expressed on endothelial cells and cells of the immune system. ICAM1 binds to integrins of type CD11a / CD18, or CD11b / CD18. ICAM1 is also exploited by Rhinovirus as a receptor. 1358664,1625758,1625756,1625753,1580863 16100282,16152588,16097065,16122754,16043164,16041273,16038038,16021473,16004874,16002039,15958383,15958080,15952122,15948767,15919214,15917409,15914533,15896355,15886114,15883744,15866119,15864742,15854776,15853902,15831709,15817812,15800027,15774488,15760456,2538243,11857637,3349522,18474291,18440309,18420209,18401716,18260262,18256065,18233990,18227124,18212564,18199704,18197885,18186794,18057581,18028430,17982228,17977219,17974148,17963163,17962718,17962597,17956423,17943642,17942534,17913807,17908278,17891599,17885215,17875742,17873320,17868277,17803991,17786132,17785844,17710630,17708604,17704297,17677000,17657162,17640650,17609265,17607549,17598660,17593226,17591781,17591777,17583675,17564956,17560459,17551301,17531998,17521325,17517105,17476188,17429072,17397790,17390085,17389327,17361014,17340048,17337890,17334226,17328035,17309130,17292586,17278022,17255534,17237434,17237399,17195014,17192354,17190650,17184150,17174307,17954174,17142773,17136392,17126824,17116732,17115895,17112530,17090406,17089918,17082600,17062505,17056576,17051589,17012367,17012252,17008592,16978373,16970684,16963052,16951376,16938116,16937502,16931899,16930678,16920698,16920492,16916660,16916657,16914605,16857989,16844085,16824729,16820586,16773720,16759306,16750586,16741608,16733712,16705652,16680245,16625213,16622032,16611655,16604499,16604496,16604055,16570073,16512757,16507929,16506060,16497620,16492228,16482425,16471223,16434609,16432463,16429128,16428725,16426244,16358956,16335952,16332693,16320110,16317091,16313300,16299052,16288711,16270299,16266408,16184405,16177322,16177300,16158332,16152613,15756053,14634129,14609725,14605444,14572618,14572449,14557478,14551606,14550782,14534081,14533030,14504278,12958678,12954625,12946329,12940514,12939654,12918698,12915579,12902516,12871600,12829919,12808331,12798307,12788528,12783123,12783117,12768436,12745437,12716892,12714566,12714373,12673844,12660796,12660163,12645577,12637697,12624779,12600815,12595908,12590979,12533701,12530121,12529420,12526797,12524171,12509902,12506144,12498973,12496412,12480084,12477932,12477764,12402194,12393699,12391099,12370391,12368450,12220988,12207164,12192299,12181421,12175089,12172576,12172318,12147222,12127369,12117984,12097820,12097408,12095649,12086338,12082592,12082081,12039084,12027924,15736117,15724813,15713910,15682683,15666579,15665526,15654951,15650392,15611342,15607204,15593054,15583842,15572059,15560890,15550998,15548573,15545280,15489334,15448102,15389590,15387368,15379751,15361125,15353596,15342556,15334773,15334673,15331736,15331359,15313174,15308783,15304054,15294853,15290909,15279951,15272865,15246972,15221034,15212674,15210758,15208262,15169768,15140794,15123348,15094060,15081401,15080580,15059493,15057477,15048650,15013836,15009098,14993495,14984317,14975197,14763979,14763917,14742996,14741380,14737745,14734737,14722298,14714557,14695458,14643123,12020443,12011765,11983205,11983194,11963839,11956618,11953106,11936473,11935152,11929876,11922919,11922836,11914659,11911111,11893710,11882338,11881155,11877286,11847011,11838958,11837795,11831864,11831440,11817671,11786177,11776680,11751911,11726228,11716965,11508575,11469468,11441079,11409120,11361181,11354638,11279101,11250042,11073102,11072593,10985244,10699175,10602408,10562537,10493852,10477700,10391210,10198043,9792375,9705328,9539703,9539702,9488691,9269771,9259284,8821031,8568270,8557254,8432525,8095960,7822297,7794538,7642561,7525451,3871395,3340213,3257922,2566624,2544880,2453850,1983003,1976256,1722744,1712819,1705751,1683685,1683616,1680919,1680698,1680025,1677359,1625472,1374132,1361527,17083721,7917519,9865497,8558011,14691297,14581566,11517385,7913356,15183063,8450224,12775419,11896203,7904170,16272310,12853962,8086129,16189514,15829968 1358664,1625758,1625756,1625753 3383 NM_000201,NG_007728,AC011511,AY225514,CH471106,M65001,U86814,X57151,X59286,AF340038,AF340039,AK130659,BC015969,BG149901,BP346334,BT006854,CR617464,J03132,M24283,M55038,M55091,S82847,X06990 NP_000192,AAO30128,EAW84086,EAW84087,AAA52710,AAB51145,CAA40441,CAA41977,AAQ14901,AAQ14902,AAH15969,AAP35500,AAA52709,AAA52708,AAA60393,AAB46863,CAA30051,O00177,P05362,Q14601,Q15463,Q5NKV7,Q5NKV8,Q99930,ABM92232,ABM84711 Hs.707983 GDB:120076 BB2|CD54|P3.58 protein-coding 1351795 ICAM2 intercellular adhesion molecule 2 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. 1580863 2497351,11857637,17609265,17059578,16987074,16857989,16335952,15572059,15548573,15545280,15489334,14970226,12477932,12193230,12097408,11375520,11017109,10352278,10077629,10050664,9786897,9759625,9726832,9705328,9638475,9473377,9472040,9378774,9373149,9153399,8889548,8870715,8858161,8125298,7916296,7905020,7553659,7526720,1769660,1676048,16189514,11869363 3384 NM_001099787,BC003097,BM695682,BX363874,CA841927,CR541812,CR541834,CR596124,CR599245,CR599573,CR599930,CR600674,CR615927,CR621141,X15606,NM_001099786,NM_001099789,NM_001099788,NM_000873,AC005803,AF212826,CH471109,M32331,M32334,AB209878,AF340052,AF340053,AK223219,AK293110 AAH03097,CAG46611,CAG46633,CAA33630,P13598,Q59ED3,Q6FHE2,Q9NZC6,ABM82769,ABM85957,NP_001093257,NP_001093256,NP_001093259,NP_001093258,NP_000864,AAF34580,EAW94216,EAW94217,EAW94218,EAW94219,EAW94220,AAA36035,BAD93115,AAQ14909,AAQ14910,BAD96939,BAF85799 Hs.431460 GDB:118816 CD102 protein-coding 1343048 ICAM3 intercellular adhesion molecule 3 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. 1580863 1448174,8459213,11857637,1448173,18261116,17913807,17591777,17570115,17145745,16335952,15958383,15880373,15572059,15163761,14970226,14726630,14718574,14704632,12743567,12600815,12571844,12477932,12021323,11799126,11784723,11353828,11257134,11179968,11017109,10721994,10626904,10380912,9661300,9638475,9539703,9473377,9373149,9298994,9268366,8889548,8777714,8605703,8325327,8125298,7876557,7851905,7836774,7822326,7553659,7523142,7482494 3385 AC011511,AC114271,CH471106,DQ217937,AF340060,AF340061,AK226023,BC034409,BC040123,BC046121,BC058903,BM676382,CR590853,CR594982,CR623746,DC425414,S50015,X69711,X69819,NM_002162 NP_002153,EAW84092,EAW84096,ABB01007,AAQ14917,AAQ14918,AAH58903,AAB24331,CAA49369,CAA49473,P32942,Q5NKU1,Q6PD68 Hs.654563 GDB:136236 CD50|CDW50|ICAM-R protein-coding 1319054 ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 8566017,6431896,11857637,17609430,16985175,16564726,15847654,15489334,15355350,15308566,14551135,12694184,12477932,12477717,11435317,10846180,9638475,8639917,8563755,8202485,7632968,16189514 3386 NM_001544,NM_022377,NM_001039132,NG_007728,AC011511,CH471106,DQ011692,X93093,BC000046,BC029364,BT009816,L27670,L27671,S78852 NP_071772,NP_001535,NP_001034221,EAW84088,EAW84089,EAW84090,AAY16986,CAA63646,AAH00046,AAH29364,AAP88818,AAA59537,AAA59538,AAB35046,Q14773,Q9BWR0,ABM83576,ABM86815 Hs.706750 GDB:120156 CD242|LW intercellular adhesion molecule 4, landsteiner-wiener blood group protein-coding 1312830 ICAM5 intercellular adhesion molecule 5, telencephalin The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. 1580863 8995416,18223167,17293864,16733712,16434609,15144186,12665801,12477932,11719200,10893271,10741396,10592287,10402269,9828136,9717930,9638475,9556028,7724062 7087 NM_003259,NG_007728,AC011511,AF082802,CH471106,BC026338,BC030132,U72671 NP_003250,AAC97931,EAW84091,AAH26338,AAH30132,AAC50959,Q8N6I2,Q8TAM9,Q9UMF0 Hs.465862 GDB:5886628 TLCN|TLN protein-coding 1353321 ICCA infantile convulsions and paroxysmal choreoathetosis 9382100 3387 GDB:6056883 1605643 ICEBERG ICEBERG caspase-1 inhibitor 11051551,15383541,12975309,11821383 59082 NM_021571,AP003181,CH471065,AF208005,AI189838,AY358231,BC131610 NP_067546,EAW67065,AAG23528,AAQ88598,AAI31611,P57730 Hs.56279 protein-coding 1345110 ICK intestinal cell (MAK-like) kinase Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. 10699974,16344560,15988018,15489334,15231748,14574404,12477932,12103360,10231032,16189514 22858 NM_016513,AL031178,AL162581,CH471081,NM_014920,AB023153,AF152469,AF225919,AI699136,AJ420557,AK074892,BC035807,BC152464,BX647493,CR608568,DA456873 NP_055735,NP_057597,CAI20261,CAI19518,EAX04400,EAX04401,EAX04402,EAX04403,EAX04404,BAA76780,AAG43364,AAF37278,AAH35807,AAI52465,Q9UPZ9 Hs.417022 KIAA0936|LCK2|MGC46090|MRK protein-coding 1603405 ICMT isoprenylcysteine carboxyl methyltransferase This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. 10441503,9614111,17347446,15489334,15146197,14966563,14702039,12750467,12631708,12477932,12006387,11906819,10649571,10412982 23463 NM_012405,AL031847,CH471130,AF064084,AF173157,AK092890,AL117548,AL564343,BC017037,BC028168,BU616418,CN343480,CR541671,CR541711,CR595162,CR605804 NP_036537,CAI19441,EAW71522,EAW71523,AAC16554,AAF89831,AAH17037,AAH28168,CAG46472,CAG46512,O60725,Q6FHT0,Q7Z750,Q9NRT1 Hs.515688,Hs.562083 GDB:9956593 HSTE14|MGC39955|MST098|MSTP098|PCCMT|PCMT|PPMT protein-coding 1344621 ICOS inducible T-cell co-stimulator The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. 1624274,1624268,1624276,1624269,1624275,1580863 9930702,18337305,18174230,18172933,18051214,17481737,17414714,17323353,17242332,17197413,17077177,16996590,16790364,16670305,16638702,16563187,16512757,16237465,16112024,16081771,16005527,15953005,15941568,15699127,15657618,15629449,15507387,15489334,15339883,15265908,15100277,14988837,14610488,14550257,12919091,12753665,12577056,12477932,12456021,12207353,12195015,11956294,11904679,11771526,11735222,11169414,11104797,11023515,11006126,10964520,10779774,10657606,10617205,16189514,12864987,12784384 1624274,1624268,1624276,1624269,1624275 29851 NM_012092,AC009965,AC103880,AF411058,AF411059,AF488347,AJ535718,CH471063,CS008892,CS008894,EF064727,AB023135,AJ277832,BC028006,BC028210 NP_036224,AAX93073,AAL40933,AAL40934,AAM00909,CAD59742,EAW70355,EAW70356,EAW70357,CAI53650,CAI53651,ABK41910,BAA82129,CAC06612,AAH28006,AAH28210,Q53QY6,Q9Y6W8 Hs.56247 GDB:10450295 AILIM|CD278|MGC39850 protein-coding 1354040 ICOSLG inducible T-cell co-stimulator ligand 12707012,12477932,12456022,11956294,11390480,11023515,11007762,10779774,10657606,9734811,11429535,11983910,12145647,17242332,16951355,16335952,16221208,16115907,15489334,15131796,15047568,14702039,14603470,12960306,12800259 23308 AK290192,AP001058,AP001059,AX100595,CH471079,EF064726,AB014553,AF199028,AF216749,AF289028,AI659611,AK090492,NM_015259,AL355690,BC064637,CR595366 NP_056074,CAC36465,EAX09446,EAX09447,EAX09448,ABK41909,BAA31628,AAF34739,AAK16241,AAG01176,BAF82881,AAH64637,O75144 Hs.14155 B7-H2|B7H2|B7RP-1|B7RP1|CD275|GL50|ICOS-L|ICOSL|KIAA0653|LICOS protein-coding 1353855 ICR1 ichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma 3388 GDB:127785 1345761 ICR2B ichthyosis congenita II, lamellar ichthyosis B 3389 GDB:1313476 1344536 ICR3 ichthyosis congenita III, vulgaris-like recessive ichthyosis 3390 GDB:127787 1353770 ICR4 ichthyosis congenita IV, ichthyosis-prematurity syndrome 3391 GDB:127788 1349639 ICR5 ichthyosis congenita V, Sjogren-Larsson-like 3392 GDB:127789 1345035 ICS1 immotile cilia syndrome 1 1601418 3393 GDB:136433 1317429 ICT1 immature colon carcinoma transcript 1 The adult colon epithelium contains 3 differentiated cell types that arise from a multipotent stem cell. Deviation from the normal maturation pathway by neoplastic transformation is thought to initiate in stem cells or their early descendants. One potential marker is ICT1 whose mRNA and protein were more highly expressed in undifferentiated than in differentiated cells. 1580863 15489334,12477932,9373149,8575443,8125298,7545548 3396 NM_001545,AC087651,CH471099,AK222553,BC015335,BT007111,X81788 NP_001536,EAW89227,BAD96273,AAH15335,AAP35775,CAA57387,Q14197,ABM81581,ABM84760 Hs.407955 GDB:9834849 DS-1 protein-coding 736819 ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. 1580863 15026801,14755252,14742319,14690332,14688027,12949053,12947323,12881706,12823438,12787042,12719589,12718878,12576450,12547711,12477932,12296825,12203366,12020803,12016143,11940648,11896613,11780052,11756408,11729207,11591653,11234019,11085505,10419887,10022839,9242638,9235903,15138269,15694377,17855368,18202790,18072288,18000500,17916352,17891176,17599389,17565736,17537403,17426247,17202424,17145808,17102133,17072841,16894355,16682435,16552541,16525633,16506209,16469432,16287090,16271072,16189525,16123120,16115231,16029118,16007194,16002046,15905202,15877825,15744343,15701714,15645115,15579766,15575081,15494533,15489884,15489334,15370294,15322112,15163661,15064751,15041724,9070860,8586447,8294468,8086456,7637581,15361847,15029197 3397 BT007443,CR591965,CR592689,CR593062,CR599901,CR600217,CR610338,CR615862,CR621997,CR626444,D13889,D13890,S78825,S78986,X77956,NM_181353,AL110115,AL117381,CH471077,U57645,AK291152,BC000613,BC012420,BG546814,NM_002165 AAP36111,BAA02988,BAA02989,AAB35038,AAB35037,CAA54920,P41134,ABM82219,ABM84268,ABM85403,ABM87656,ABW03909,ABW03919,ABW03609,NP_002156,NP_851998,CAC14950,CAI20171,CAI23029,CAI23030,EAW76432,EAW76433,EAW76434,AAC13882,AAC13883,BAF83841,AAH00613,AAH12420 Hs.504609 GDB:434745 ID inhibitor of dna binding 1, helix-loop-helix protein (splice variation) protein-coding 732001 ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein The protein encoded by this gene belongs to the inhibitor of DNA binding (ID) family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the ID family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene has been identified for this gene. 1580863 15249128,14627819,1741406,18085637,18000500,17631285,17630394,17431671,16877363,16810178,16705184,16682435,16549780,16311606,16223775,16169070,15744343,15701714,15691830,15645115,15489334,15252039,15041724,14733935,14612502,14582708,12878164,12824180,12670915,12657241,12598895,12545167,12527902,12483209,12477932,12447693,11940648,11782392,11756408,11591653,11560778,11301021,11134340,11034201,10891368,10585876,10502414,10067894,10022839,9373149,9242638,9029153,8649364,8586447,8294468,8224921,8125298,7926730,16189514 3398 NM_002166,AC011747,CH471053,AK222682,AY634687,BC030639,BE222494,CR607131,CR611001,CR614653,CR620423,CR620531,CR623038,CR626410,D13891,M97796 NP_002157,AAY14810,EAX01018,EAX01019,BAD96402,AAV35470,AAH30639,BAA02990,AAA58681,Q02363,Q53H99,Q53T66,ABM81784,ABM84939 Hs.180919 GDB:434746 GIG8|ID2A|ID2H|MGC26389 protein-coding 1349998 ID2B inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein 1580863 8224921 84099 AC104849,M96843 AAA16865,Q14602 Hs.591670 pseudo 734069 ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein Members of the ID family of helix-loop-helix (HLH) proteins lack a basic DNA-binding domain and inhibit transcription through formation of nonfunctional dimers that are incapable of binding to DNA.[supplied by OMIM] 1580863 16271072,15645115,15583422,15494533,15489334,15370294,15342556,12952978,12547711,12477932,12054881,11940648,11756408,11591653,10593873,10585876,10022839,9821964,9525934,9372912,9242638,8999959,8804437,8798572,8759016,8645731,8632670,7828896,7821789,7777541,16189514,8437843,1628620,14627819,18374504,18281048,17537403,16710414,16682435,16449966 3399 AL021154,CH471134,X73428,AK290003,BC003107,BM921819,BP193075,BT006791,CR597388,CR603067,CR611504,CR612668,CR615457,D28449,X66924,X69111,NM_002167,A17546,A17548 NP_002158,CAA15950,EAW95060,EAW95061,CAA51827,BAF82692,AAH03107,AAP35437,BAA05815,CAA47360,CAA48862,Q02535,CAA01342,CAA01343,ABM83430,ABM86465,ABM86643 Hs.76884 GDB:330728 HEIR-1 protein-coding 736051 ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein Transcription factors containing a basic helix-loop-helix (bHLH) motif regulate expression of tissue-specific genes in a number of mammalian and insect systems. DNA-binding activity of the bHLH proteins is dependent on formation of homo- and/or heterodimers. Dominant-negative HLH proteins encoded by Id-related genes, such as ID4, also contain the HLH-dimerization domain but lack the DNA-binding basic domain. Consequently, Id proteins inhibit binding to DNA and transcriptional transactivation by heterodimerization with bHLH proteins (Pagliuca et al., 1995 [PubMed 7665172]).[supplied by OMIM] 1580863 7665172,11136250,17940204,17510533,16682435,15876350,15723065,15569977,15489334,14633621,14574404,14534543,12969807,12477932,11756408,9872455,9418957,8759016 3400 NM_001546,AL022726,CH471087,AK130851,BC014941,U16153,U28368,Y07958 NP_001537,CAA18779,EAW55416,AAH14941,AAA82882,AAA73923,CAA69255,P47928 Hs.519601 GDB:453297 IDB4 protein-coding 1348687 IDDM10 insulin-dependent diabetes mellitus 10 734541 734541 3409 GDB:450788 1354194 IDDM11 insulin-dependent diabetes mellitus 11 8617492 3410 GDB:512380 1344899 IDDM12 insulin-dependent diabetes mellitus 12 8817351 3411 GDB:1211175 1347272 IDDM13 insulin-dependent diabetes mellitus 13 8650584 3412 GDB:1211176 1350047 IDDM14 insulin-dependent diabetes mellitus 14 3413 GDB:1211177 1348722 IDDM15 insulin-dependent diabetes mellitus 15 8981961 3414 GDB:3770725 1352929 IDDM16 insulin-dependent diabetes mellitus 16 3415 GDB:6837504 1353800 IDDM17 insulin-dependent diabetes mellitus 17 734512 734512 8691 GDB:9956319 1345918 IDDM18 insulin-dependent diabetes mellitus 18 57044 GDB:10013688 1346720 IDDM2 insulin-dependent diabetes mellitus 2 1944595 3401 GDB:128530 1349326 IDDM3 insulin-dependent diabetes mellitus 3 7842018 3402 GDB:392650 1351919 IDDM4 insulin-dependent diabetes mellitus 4 7842018,8072542 3403 GDB:386028 1348820 IDDM5 insulin-dependent diabetes mellitus 5 8072542 3404 GDB:392654 1351545 IDDM6 insulin-dependent diabetes mellitus 6 1298359 1298359 3405 GDB:424499 1345102 IDDM7 insulin-dependent diabetes mellitus 7 7813807 3406 GDB:424500 1347496 IDDM8 insulin-dependent diabetes mellitus 8 7573053 3407 GDB:450769 1350561 IDDM9 insulin-dependent diabetes mellitus 9 3408 GDB:450768 732801 IDE insulin-degrading enzyme This gene may belong to a protease family responsible for intercellular peptide signalling. Though its role in the cellular processing of insulin has not yet been defined, insulin-degrading enzyme is thought to be involved in the termination of the insulin response. 737718,737717,1580863,1626696,1626697,1626698 17913278,17827400,17804762,17579348,17496198,17463249,17293876,17244626,17192785,17192720,17143514,17055432,17051221,16914266,16876916,16675064,16574064,16511862,16380485,16344560,15911128,15858821,15858813,15850385,15718037,15590928,15489232,15285718,15277615,15277398,15181249,15088150,2293021,3059494,9830016,8425612,18426861,18226493,17971426,17964527,17953957,15024728,14764804,14755451,14702039,14517947,12850277,12765971,12746301,12716770,12634421,12507914,12477932,12161276,11809755,11145591,10684867,9070242,8077210,8051160,7731996,6401723,1743072,1733942,1607078,758022 737718,737717,1626696,1626697,1626698 3416 NM_004969,AL356128,CH471066,AB209204,AK093287,BC036188,BC096336,BC096337,BC096338,BC096339,BX648462,DA643304,DB204538,M21188 NP_004960,CAI13669,CAI13670,EAW50090,EAW50091,EAW50092,EAW50093,BAD92441,AAH96336,AAH96337,AAH96339,AAA52712,P14735,Q59GA5,Q5T5N2 Hs.500546 GDB:118817 FLJ35968|INSULYSIN insulin degrading enzyme protein-coding 737145 IDH1 isocitrate dehydrogenase 1 (NADP+), soluble Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. 1300048,1580863,1626475 9866202,16751257,16381901,16236267,15936593,15489336,15489334,15173171,12923220,12477932,11256614,11230166,11076863,10521434,7551812,4422176,4388365,3861566 1626475 3417 AF020038,AF113917,AL136702,BC012846,BC021046,BC093020,BX537411,CR533522,CR536499,CR541695,CR594054,CR608733,CR622041,DQ403082,U62389,NM_005896,AC016697,AF197566,CH471063 EAW70441,EAW70442,AAD02918,AAD29284,CAB66637,AAH12846,AAH93020,CAD97653,CAG38553,CAG38738,CAG46496,ABD77215,AAB17375,O75874,Q0JVH0,Q0QER2,Q567U4,Q6FHQ6,Q6FI37,NP_005887,AAX93221,AAG43470,EAW70439,EAW70440,Q6FIA4,Q7Z3V0,Q9H302,CAL37462,CAL37490,CAL38069,ABM82361,ABW03396 Hs.593422,Hs.708001 GDB:119325 IDH|IDP|PICD isocitrate dehydrogenase 1 protein-coding 1313391 IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. 1580863 8954790,18096511,17854715,16396496,15489334,12665801,12477932,9373149,8707889,8125298,3363531,970033,965003,752528,564083,11969 3418 NM_002168,AC087284,AC092769,CH471101,AK222916,BC009244,BC071828,CR590507,CR593087,CR593589,CR594870,CR595435,CR597564,CR597829,CR598530,CR599159,CR625291,CR625730,CR625817,X69433,CR622745,CR599284,CR600286,CR600938,CR602079,CR602902,CR604829,CR606440,CR606745,CR607058,CR607159,CR607742,CR610676,CR610749,CR610921,CR613707,CR615856,CR616318,CR617229,CR617266,CR617370,CR619261,CR619410 NP_002159,EAX02082,EAX02083,BAD96636,AAH09244,AAH71828,CAA49208,P48735,Q13584,Q53GL5,ABM83743,ABM87062 Hs.596461 GDB:119326 ICD-M|IDH|IDHM|IDP|mNADP-IDH protein-coding 733177 IDH3A isocitrate dehydrogenase 3 (NAD+) alpha Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. 1580863 8833160,17432878,16737955,16236267,15489334,14702039,14555658,12543931,12488461,12477932,10677231,10601238,9373149,8125298,7755589 3419 NM_005530,AC090260,CH471136,AK093531,AK222973,AL110096,AL442090,BC021967,BC036227,CR599067,CR624257,CR749548,U07681 NP_005521,EAW99181,EAW99182,BAD96693,CAC09449,AAH21967,CAH18348,AAA85639,P50213,Q53GF8,Q68D72,ABM83700,ABM84455,ABM87021 Hs.591110 GDB:681293 protein-coding 1349945 IDH3B isocitrate dehydrogenase 3 (NAD+) beta Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Three alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 10601238,14555658,17432878,16737955,16713569,15653693,15489334,14702039,12477932,11780052,10677231,10575215,16189514 3420 NM_174856,NM_006899,NM_174855,AF046929,AL049712,CH471133,AK001905,AL050094,BC001960,BC019037,BX647393,CR611698,CR614771,CR615180,CR615874,CR616056,CR618774 NP_777281,NP_008830,NP_777280,AAF20164,CAC01442,CAC01443,EAX10578,EAX10579,EAX10580,EAX10581,EAX10582,EAX10583,BAA91971,CAB43266,AAH01960,O43837,Q9NUZ0,Q9UIC5,ABM83487,ABM86702,ABM86742 Hs.436405 GDB:681295 FLJ11043|H-IDHB|MGC903 protein-coding 731354 IDH3G isocitrate dehydrogenase 3 (NAD+) gamma Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. 1302383,1580863 9286695,14555658,17432878,16737955,16381901,15489336,15489334,12477932,11256614,11076863,10677231,10601238,8661155,16189514 1302383 3421 CR616620,CR626830,U40272,U69268,U69269,Z68907,NM_004135,CH471172,U52111,Z68129,AB209206,BC000933,BC001902,CR590006,CR595957,CR595975,CR599559,CR605410,CR606786,CR608068,CR612798,CR614068,CR615747,NM_174869,CR616395 AAD09357,AAB70115,AAB70116,CAA93143,O15384,O15385,P51553,Q0JTN7,Q0JU01,Q59GA3,CAL38011,CAL38125,NP_777358,NP_004126,EAW72793,CAA92214,BAD92443,AAH00933,AAH01902 Hs.410197 GDB:681298 H-IDHG isocitrate dehydrogenase 3, gamma protein-coding 735459 IDI1 isopentenyl-diphosphate delta isomerase 1 IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. 1580863,1300048 8020941,8188698,16806233,15489334,14629038,12860252,12477932,9373149,8806705,8125298 3422 NM_004508,AC022536,AF271724,AF291755,CH471072,AF271720,AK222875,BC005247,BC006999,BC019227,BC022418,BC025375,BC057827,BC107893,BE891119,BT006761,BX537663,BX648472,CR590015,CR591790,CR596142,CR596871,CR597870,CR600177,CR602134,CR605332,CR613243,CR613434,CR614669,CR620656,CR622955,CR624844,CR625468,CR625705,X17025 NP_004499,AAK49434,AAK29357,EAW86520,EAW86521,AAK49435,BAD96595,AAH05247,AAH06999,AAH19227,AAH22418,AAH25375,AAH57827,AAI07894,AAP35407,CAA34890,Q13907 Hs.283652,Hs.705628 GDB:681510 IPP1|IPPI1 isopentenyl-diphosphate delta isomerase protein-coding 1317828 IDI2 isopentenyl-diphosphate delta isomerase 2 737633,1580863 8806705,17202134,15489334,14702039,14629038,12477932 737633 91734 NM_033261,AC022536,AF271729,AF291755,CH471072,AF271725,AK056950,BC017778,BC040651 NP_150286,AAK49436,AAK29358,EAW86525,AAK49437,BAB71322,AAH17778,Q9BXS1 Hs.9270,Hs.591325 IPPI2 protein-coding 1351665 IDS iduronate 2-sulfatase (Hunter syndrome) Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked Mucopolysaccharidosis Type II, also known as Hunter Syndrome. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described. 1599819,1580863 8318991,8281149,11683780,11462244,11015461,10838181,10737977,10671065,10447264,10220152,10215411,9950361,9921913,9875019,9762601,9660053,9501270,9375851,9337875,9266380,9222763,9147653,8940265,8830188,8717057,8664909,8566953,8530090,8528670,8490623,8364592,2122463,11256614,17657858,17655837,17616540,17091340,17063374,16699754,16617305,16480701,16133661,15909065,15772651,15614569,15500445,15146464,14702039,12794697,12655569,12477932,11731225,8244397,8111411,7981716,7887413,7866405,7728156,7599640,7581397,6418082,3104200,2222422,1906048,1901826,1639384,1550586,1355630,1303211,1284597 1599819 3423 NM_000202,NM_006123,AF011889,CH471171,L04586,L13321,L13329,L38660,AF050145,AF179280,AF179281,AK055600,AK057191,AK124040,AK124660,AL117536,BC006170,BX647357,CR625022,EF363095,L40586,M58342,U66044,U66045 NP_000193,NP_006114,AAC77828,EAW61280,EAW61281,EAW61282,EAW61283,EAW61284,EAW61285,AAA59192,AAA16877,AAB64180,AAC05984,AAH06170,AAA92014,AAA63197,O60597,P22304,Q14603,Q9BRM3 Hs.460960 GDB:120521 MPS2|SIDS protein-coding 1347874 IDSP1 iduronate 2-sulfatase pseudogene 1 7814022,7633410 3424 NG_001149,AF011889,L36846 GDB:511165 IDS2 pseudo 1322129 IDUA iduronidase, alpha-L- This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). 1599894,1580863 2470345,17570076,16435195,16344560,16169070,15862278,15521993,15300847,12818523,12559846,12477932,11861306,11825626,11735025,11555618,10738517,10735634,10466419,9391892,8680403,8664897,8554071,8477267,8401515,8328452,8242073,8213840,8019563,7951228,7550242,7550232,6821579,4221470,2220820,2170400,1946389,1883197,1832239,1550122,1505961,1362562,1301941 1599894 3425 AC019103,CH471131,M95740,AB208901,AK098805,AK125223,AK291816,NM_000203,BC029959,BC099922,CD367032,DA057148,M74715 NP_000194,EAW82616,EAW82617,EAW82618,EAW82619,EAW82620,EAW82621,EAW82622,EAW82623,EAW82624,EAW82625,EAW82626,EAW82627,AAA51698,BAD92138,BAF84505,AAH29959,AAA81589,P35475,Q56A80,Q59H58 Hs.89560 GDB:119327 IDA|MPS1 protein-coding 1343257 IER2 immediate early response 2 737633 15489334,12477932,2061303 737633 9592 CR603448,CR606790,CR606860,CR606997,CR607279,CR607809,CR608502,CR608672,CR610628,CR613150,CR613699,CR614886,CR619168,CR620054,CR621121,CR622473,CR625470,CR625552,CR625573,M62831,NM_004907,AC011446,CH471106,BC003625,BC072432,BC110647,BT019466,CR450352,CR592233,CR593038,CR595420,CR595783,CR595984,CR596913,CR596965,CR597130,CR601806,CR602141,CR602346,CR603024 AAA35814,Q9BTL4,ABM83218,ABM86418,NP_004898,EAW84358,EAW84359,EAW84360,AAH03625,AAH72432,AAI10648,AAV38273,CAG29348 Hs.501629 ETR101|MGC111472|MGC15265 protein-coding 1347080 IER3 immediate early response 3 This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. 1580863 9196025,9703517,18026799,17704804,16973576,16960879,16567805,16344560,15855159,15781630,15767410,15489334,15451437,15120418,12761504,12743274,12682234,12510147,12477932,12356731,12032839,11910304,11844788,11782530,11455449,10448082,9878538,9791001,9781666,9588170,9373149,8653710,8603392,8125298 8870 NM_003897,AB088101,AB202099,AF071596,AL662797,AL662848,AL845353,BA000025,CH471081,X96438,Y16736,AF039067,AF083421,AK222588,BC000844,BC005080,BM915952,BT006703,CR594838,CR594999,CR599121,CR599601,CR605389,CR613281,CR625889,DA893782,S81914,Y14551 NP_003888,BAC54933,BAE78619,AAC72344,CAI18208,CAI18210,CAI17444,CAI17446,CAI41897,CAI41898,CAI41899,BAB63319,EAX03329,EAX03330,EAX03331,CAA65304,CAA76350,AAC32558,AAC33793,BAD96308,AAH00844,AAH05080,AAP35349,AAB36278,CAA74886,O75353,P46695,Q53HJ2,Q5JP65,Q5ST77,Q5ST79,Q5SU30,Q6LAI3 Hs.591785,Hs.696650 GDB:9958865 DIF-2|DIF2|GLY96|IEX-1|IEX-1L|IEX1|PRG1 protein-coding 1352833 IER3IP1 immediate early response 3 interacting protein 1 1580863 16341674,15489334,15276200,12477932,11256614,11230166,11042152,10931946 51124 NM_016097,AC051635,CH471096,AF119875,AF125100,AF164798,AF371963,AK027108,AL136667,BC010888,BC017391,BM829309,CR533488,CR596209,CR596950,CR599998,CR614259 NP_057181,EAW62909,AAF69629,AAD39917,AAF80762,AAK53816,CAB66602,AAH10888,AAH17391,CAG38519,Q9P171,Q9Y5U9,ABM83792,ABM87114 Hs.653122 HSPC039|PRO2309 protein-coding 737469 IER5 immediate early response 5 This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. 16710414,15498874,15489334,12477932,11102586,10049588,8889549 51278 NM_016545,AL356267,CH471067,AA235294,AF178984,AF258581,AI696140,AJ251089,BC000128,BC108253,CR591624,CR611489,CR618453,CR622335 NP_057629,EAW91099,AAF44348,AAG23784,CAB91983,AAH00128,AAI08254,Q32P56,Q5VY09 Hs.15725 GDB:10796183 MGC102760|SBBI48 protein-coding 1349464 IER5L immediate early response 5-like 16341674,15146197,12477932,8889548 389792 NM_203434,AL158151,CH471090,BC013070,BC064028,BM763373,BQ574938,BU676697,BX458317,CN293040,CR610382,CR620204 NP_982258,CAI12875,EAW87886,AAH64028,Q5T953,Q6ZW12 Hs.529857 MGC70833|bA247A12.2 protein-coding 1603680 IFFO intermediate filament family orphan This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Alternative splicing has been observed for this gene and three transcript variants encoding different isoforms have been identified. Other alternatively spliced transcripts may exist, but their biological validity has not been confirmed. 16713569,16189514,14702039,12477932,12032826,8771189,3052284 25900 NM_080730,NM_001039670,NM_080731,NG_007073,AC006064,CH471116,BC010431,BC023664,BC063004,BC071170,BC103817,BC103818,BC103819,BC110387,BC113848,BC114454,BM922290,BX327856,BX648701,BX648743,CR616146,AK000710,AF124432,AI969315,AK095106,AL080214,AW075280,BC001790,BC002857,BC004384 NP_542768,NP_001034759,NP_542769,EAW88781,EAW88782,EAW88783,EAW88784,EAW88785,AAH04384,AAH10431,AAH63004,AAH71170,AAI03818,AAI03819,AAI10388,AAI13849,AAI14455,CAH56164,CAH56183,Q0D2I5,Q24JT6,Q3SYH3,Q63HK6,Q6P593,Q9NWP4,Q9Y4M3,BAA91335,CAB45778,AAH02857 Hs.15243 DKFZP586I2223|FLJ20703|HOM-TES-103|MGC117359 protein-coding 1344171 IFI16 interferon, gamma-inducible protein 16 This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. 1580863 7536752,14654789,7959953,7806273,1526658,16189514,9718316,9642285,9766636,18231640,17981596,17981573,17981542,17981541,17699163,17510972,17339605,16964243,16710414,16494870,16344560,15728246,15572361,15569046,15489334,15302935,14990579,14729471,14702039,12925527,12894224,12682910,12539042,12477932,12184920,11146555,11115400 3428 NM_005531,AL359753,CH471121,S75415,S75433,AB208989,AF086545,AF208043,AK094968,AY138863,BC017059,BM993134,CR603557,CR620182,CR621058,DA990524,M63838 NP_005522,CAI15081,CAI15082,CAI15083,CAI15084,CAI15085,CAI15086,EAW52797,EAW52798,EAW52799,EAW52800,EAW52801,EAW52802,EAW52803,AAB32519,BAD92226,AAF20997,BAC04462,AAM96005,AAH17059,AAA58683,Q16666,ABM81988,ABM85168 Hs.380250 GDB:223545 IFNGIP1|MGC9466|PYHIN2 protein-coding 1351661 IFI27 interferon, alpha-inducible protein 27 1580863 18361427,17166282,16381901,15489336,15489334,15063762,15014966,14728724,14719078,14702039,12878323,12539042,12477932,11722583,11256614,11230166,11076863,9837900,8358738,16189514 3429 AL079302,AL121838,CH471061,AI799552,AJ294851,NM_005532,AK095039,AK097084,AK289535,AY126456,AY126457,AY126458,BC015492,BN000227,BT006781,BU601451,BX647330,CB993374,X67325 NP_005523,EAW81556,EAW81557,EAW81558,CAC10503,BAF82224,AAM95743,AAM95744,AAM95745,AAH15492,CAE00394,AAP35427,CAA47739,P40305,Q0JS60,Q7Z5R0,Q7Z5R1,Q7Z5R2,Q9H4B1,CAL37985,CAL38654,ABM84742 Hs.532634 GDB:228703 FAM14D|ISG12|ISG12A|P27 protein-coding 1321848 IFI30 interferon, gamma-inducible protein 30 The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. 1580863 3136170,12477932,12198183,12021307,11491538,10852914,10639150,1069150,16170 10437 BE515053,CR604887,BC031020,AC007192,AC068499,AC093080,CH471106,AB049659,AF401212,AK123477,AK291551,BC021136,NM_006332,CR611745,CR617281,CR622428,CR622693,DQ884410 AAH31020,NP_006323,AAD22672,EAW84661,EAW84662,EAW84663,EAW84664,EAW84665,EAW84666,BAC98466,AAL02170,BAC85622,BAF84240,AAH21136,ABI63377,P13284,Q6ZW82,Q76MF9,Q8NEI4,Q8WU77,Q96P99,Q9UPH8,ABM82942,ABM86132 Hs.14623 GDB:9957004 GILT|IFI-30|IP30|MGC32056 protein-coding 1312056 IFI35 interferon-induced protein 35 1580863 8954125,8288566,17197158,15489334,12665801,12539042,12477932,11911807,10950963,10779520,8938427,7753812 3430 NM_005533,AC055866,CH471152,L78833,AK025406,BC001356,U72882 NP_005524,EAW60914,AAB61703,P80217,ABM83524,ABM86752,EAW60915,EAW60916,AAC37597,AAH01356 Hs.632258 GDB:304661 FLJ21753|IFP35 protein-coding 1350219 IFI4 interferon-induced protein 4 3175763 3427 GDB:119962 1321473 IFI44 interferon-induced protein 44 1580863 7925411,17784819,16886895,15489334,12539042,12477932 10561 NM_006417,AC104837,CH471059,D28915,BC022870,CA426666,CR621445,DC300799,DN994910 NP_006408,EAX06347,EAX06348,BAA06043,AAH22870,Q14496,Q8TCB0 Hs.82316 GDB:9957659 MTAP44|p44 protein-coding 1352700 IFI44L interferon-induced protein 44-like 16344560,12477932,9373149 10964 NM_006820,AC104837,CH471059,AB000115,AK223087,AK225442,AL832618,AW015958,BC015932,DA699730 NP_006811,EAX06349,BAA19056,BAD96807,CAD90004,AAH15932,Q53G44,Q86TE1,Q96B64,Q99984 Hs.389724,Hs.633116 C1orf29|GS3686 protein-coding 1342870 IFI6 interferon, alpha-inducible protein 6 This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. 1580863 15685448,3017706,15489334,12477932,7596809,6548414,3359997,1713665,1695131,1303280,15502823 2537 NM_022873,NM_022872,NM_002038,AJ426287,AL445490,CH471059,CQ834276,U22970,AF430686,AK024814,BC011601,BC015603,BN000257,BT006850,X02492 NP_075011,NP_075010,NP_002029,CAD19977,CAH72020,CAH72021,CAH72022,EAX07744,EAX07745,EAX07746,CAH05353,AAC50159,AAC50160,AAC50161,AAL26623,AAH11601,AAH15603,CAE12275,AAP35496,CAA26322,P09912,Q5VVR2,Q5VVR3,Q6IE95 Hs.511731,Hs.523847 GDB:125867 6-16|FAM14C|G1P3|IFI-6-16|IFI616 protein-coding 1347526 IFIH1 interferon induced with helicase C domain 1 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon (IFNB) and a protein kinase C-activating compound, mezerein (MEZ). Irreversible reprogramming of melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. 1580863 18285833,18071670,18026693,17541283,17535987,17442111,17267501,16797201,16782388,16699517,16575407,16177806,16127453,16116171,15563593,15489334,14702039,14676839,14645903,12477932,12015121,11805321 64135 BC007966,BC046208,BC078180,BC111750,BU902097,NM_022168,AC007750,AC010876,CH471058,AF095844,AK056293,AK292941,AY017378 AAG54076,AAH46208,AAH78180,AAI11751,Q53TB6,Q53TP4,Q9BYX4,NP_071451,AAY24206,AAX93137,EAX11352,AAG34368,BAB71141,BAF85630 Hs.163173 Hlcd|IDDM19|MDA-5|MDA5|MGC133047 protein-coding 1312562 IFIT1 interferon-induced protein with tetratricopeptide repeats 1 1580863 3753936,16973618,16344560,16189514,15489334,14702039,12708317,12477932,11152506,11118224,10662616,10644362,9826176,6186990,3585080,3360121,3175763,3121313,1377167 3434 NM_001548,AL353146,CH471066,X06559,AK092813,AL548182,AL711085,BC007091,BT006667,CA306581,CD106320,CR591778,CR593386,CR601585,CR617896,CR621649,CR623965,DA822484,X03557 NP_001539,CAI12379,EAW50136,EAW50137,EAW50138,CAA29802,AAH07091,AAP35313,CAA27244,P09914,Q5T7J1,ABM84460,ABM84681 Hs.20315 GDB:120620 G10P1|GARG-16|IFI-56|IFI56|IFNAI1|ISG56|RNM561 protein-coding 1344579 IFIT1L interferon-induced protein with tetratricopeptide repeats 1-like 3175763 439996 NM_001010987,AL353751,CH471066,BC137368,BC137369,BC150189,BX647300 NP_001010987,CAI12242,EAW50139,AAI37369,AAI37370,AAI50190,Q5T764 Hs.500491 DKFZp781M1841|bA149I23.6 protein-coding 1342851 IFIT1P interferon-induced protein with tetratricopeptide repeats 1, pseudogene 10978293,3175763 8373 NG_001215,AF196987,AL445212 GDB:119960 G13P1|IFI56P|II56P pseudo 1317209 IFIT2 interferon-induced protein with tetratricopeptide repeats 2 1580863 17081983,17030862,16973618,16344560,12708317,12477932,9391139,8889549,3466167,3360121,3175763,3119591,2454816,1377167,16189514 3433 CH471066,M14659,M14660,X07557,AA143609,AA765174,BC005987,BC032839,DA631671,EB387611,NM_001547,AL353751 CAI12238,EAW50145,AAA59191,CAA30438,AAH05987,AAH32839,P09913,Q05DN2,Q5T767,Q8IZ03,NP_001538 Hs.437609 GDB:119959 G10P2|GARG-39|IFI-54|IFI54|ISG-54K|ISG54|cig42 protein-coding 1353716 IFIT3 interferon-induced protein with tetratricopeptide repeats 3 1580863 16964243,16189514,15489334,12539042,12477932,9828129,9391139,9207104,14499622 3437 NM_001549,NM_001031683,AL353751,CH471066,AF026939,AF083470,AK290427,BC001383,BC004977,BT007284,CR618361,CR626380,U52513 NP_001540,NP_001026853,CAI12239,CAI12240,EAW50143,EAW50144,AAB95160,AAC63524,BAF83116,AAH01383,AAH04977,AAP35948,AAB40606,O14879,Q5T765 Hs.47338 GDB:9864365 CIG-49|GARG-49|IFI60|IFIT4|IRG2|ISG60|RIG-G protein-coding 1348146 IFIT5 interferon-induced protein with tetratricopeptide repeats 5 1580863 15489334,12477932,9398535 24138 NM_012420,AL353146,CH471066,BC025786,CR457031,CR624828,U34605 NP_036552,CAI12381,EAW50135,AAH25786,CAG33312,AAA84934,Q13325,Q5T7I9,Q6IAX3 Hs.252839 RI58 protein-coding 1316889 IFITM1 interferon induced transmembrane protein 1 (9-27) 1580863 14667819,7559564,18202764,15808405,15661263,15489334,12926988,12477932,7680491,6548414,3935435,2492664,2398277,1383329,16189514 8519 AAB25699 NM_003641,AC136475,CH471278,AK290480,BC000897,BT007173,J04164,X84958 NP_003632,EAW61218,EAW61219,BAF83169,AAH00897,AAP35837,AAA35494,CAA59337,AAB25699,P13164,Q53XZ0,ABM82020,ABM85202 Hs.458414 GDB:9955537 9-27|CD225|IFI17|LEU13 protein-coding 1352409 IFITM2 interferon induced transmembrane protein 2 (1-8D) 1580863 6548414,15231747,1906403,15489334,12477932,3935435 10581 NM_006435,AC136475,CH471278,CS300517,BC009696,BG164993,BG257141,BT009859,CR456894,CR541874,CR604902,X02490,X57351 NP_006426,EAW61220,EAW61221,CAK32181,AAH09696,AAP88861,CAG33175,CAG46672,CAA26321,CAA40625,Q01629,Q14617,Q6FH82,Q6IBB0,ABM82593,ABM85541 Hs.709321 GDB:9957685 1-8D protein-coding 1343642 IFITM3 interferon induced transmembrane protein 3 (1-8U) 1580863 1906403,11256614,18177740,16381901,16344560,16326387,15489336,15489334,12477932,11076863,10950117 10410 NM_021034,AC136475,CH891444,AI355192,AK292173,BC006794,BC008417,BC022439,BC070243,BT006892,CR611877,DB261103,X57352 NP_066362,EAW50866,BAF84862,AAH06794,AAH08417,AAH22439,AAH70243,AAP35538,CAA40626,Q01628,Q53Y76,CAL37601,CAL38570,ABM82024,ABM85206 Hs.374650 GDB:9956914 1-8U|IP15 protein-coding 1602166 IFITM4P interferon induced transmembrane protein 4 pseudogene 16344560 340198 NR_001590,AL022723,AL645939,AL669813,AL844851 dJ377H14.5 pseudo 1606092 IFITM5 interferon induced transmembrane protein 5 18442316,12659663,11106657 387733 NM_001025295,AC136475,CH471278,BC150562,BC150563 NP_001020466,EAW61222,AAI50563,AAI50564,A6NNB3,AAI56101,AAI56993 Hs.443469 BRIL|Hrmp1|fragilis4 protein-coding 1604413 IFITM8P interferon induced transmembrane protein 8 pseudogene 15869325 613204 NG_005307,AC011124,DQ031534 pseudo 2289755 IFITM9P interferon induced transmembrane protein 9 pseudogene 390218 NG_006210,AP005232 pseudo 1602644 IFLTD1 intermediate filament tail domain containing 1 15688036,14702039,12477932 160492 NM_152590,AC022367,CH471094,AK093323,BC037957 NP_689803,EAW96516,EAW96517,EAW96518,BAC04132,AAH37957,Q8N9Z9 Hs.44647 FLJ36004|Pas1c1 protein-coding 1345385 IFN1@ interferon, type 1, cluster 3438 GDB:119328 1354356 IFNA1 interferon, alpha 1 Leukocyte interferon is produced predominantly by B lymphocytes. Immune interferon (IFN-gamma; MIM 147570) is produced by mitogen- or antigen-stimulated T lymphocytes.[supplied by OMIM] 1580863 18283629,18272764,18184042,18050196,17968926,17968925,17956986,17911607,17785816,17597478,17572490,17517919,16859998,16797201,16785534,16426578,16253303,16175599,16005433,15941912,15883164,15795269,15790787,15699120,15674657,15634924,15621727,15585849,15571260,15489334,15240148,15233997,15188363,15164053,15087447,18311820,15056668,14734746,14500632,12967644,12817009,12804771,12761564,12759354,12749388,12682235,12620797,12581491,12543882,12538683,12530117,12477932,12435568,12410802,12393722,12323007,12242445,12162875,12097384,12091360,12070711,11991671,11986939,11744801,11315919,11032395,9520456,9425112,9271440,9181467,8668211,8454630,7932753,7532202,6479148,6310510,6163083,6159536,6157600,6157095,4057246,3262520,2985969,2014240,1849076,1708818,1385305,9343822,9865497,7913356,17180012,16278001,15481145,8345204,7904170,7526537,1381203,8661419,7583919,1905933,2552026,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572,16375755 3439 NM_024013,AF439447,AL353732,CH471071,CQ847555,DQ185447,J00210,M29884,BC074928,BC074929,BC112002,BC112300,BC112302,V00537,V00538,E00175 NP_076918,AAL35223,CAH72911,EAW58609,CAH18030,ABA03167,AAB59403,AAA52714,AAH74928,AAH74929,AAI12003,AAI12301,AAI12303,CAA23798,CAA23799,P01562 Hs.37026 GDB:136353 IFL|IFN|IFN-ALPHA|IFNA13|IFNA@|MGC138207|MGC138505|MGC138507 protein-coding 1348367 IFNA10 interferon, alpha 10 1580863 15489334,12477932,9425112,8668211,6397400,6181262,6163083,4057246,2526839,1385305 3446 NM_002171,AL512606,CH471071,M10200,V00531,X02961,BC069409,BC103972,BC103973,V00551 NP_002162,CAH71191,EAW58619,AAH69409,AAI03973,AAI03974,CAA23812,P01566,Q5VV13 Hs.282275 GDB:136354 MGC119878|MGC119879 protein-coding 1352734 IFNA13 interferon, alpha 13 1580863 4057246,15489334,15233997,15164053,12477932,11032395,9425112,8668211,6479148,6310510,6163083,6159536,6157600,6157095,2985969,1385305,1371992 3447 NM_006900,AL353732,CH471071,X00803,X75934,BC069427,BC093988 NP_008831,CAH72904,EAW58612,CAA25381,CAA53538,AAH69427,AAH93988,P01562 Hs.533471 GDB:136355 protein-coding 1348999 IFNA14 interferon, alpha 14 1580863 6163083,15489334,12477932,9425112,8910771,8668211,6165082,4057246,1602151,1385305,1371992 3448 AL162420,CH471071,V00533,X02959,BC074956,BC104159,BC104160,V00542,NM_002172 NP_002163,CAH73187,EAW58616,CAA23794,CAA26705,AAH74956,AAI04160,AAI04161,CAA23803,P01570 Hs.93907 GDB:136356 LEIF2H|MGC125756|MGC125757 protein-coding 1352583 IFNA16 interferon, alpha 16 1580863 6548765,6397400,6387705,4057246,1385305,1371992,9343822,9865497,7913356,8661419,17180012,16278001,15481145,8345204,7904170,7526537,1381203,7583919,1905933,2552026,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572 3449 NM_002173,AL512606,CH471071,K02055,M10201,X02957,M28585,X00140 NP_002164,CAH71193,EAW58618,AAA52727,AAA52732,CAA26703,AAA36042,CAA24970,P05015,Q14618,Q5VV12,Q9UMJ2,AAI40291,AAI46501 Hs.56303 GDB:136357 protein-coding 1354164 IFNA17 interferon, alpha 17 1580863 3891272,17956450,15004750,12490311,12477932,9712362,9425112,8668211,6397400,6165082,4008999,3767336,1634550,1385305,1371992 3451 NM_021268,AL162420,CH471071,V00532,BC096732,BC098355,M11026,M38289,M71246 NP_067091,CAH73185,EAW58617,CAA23793,AAH96732,AAH98355,AAA52725,AAA59165,AAA52713,P01571 Hs.282276 GDB:136358 IFNA|INFA|LEIF2C1 protein-coding 1350795 IFNA2 interferon, alpha 2 1580863 6158094,10477584,18032529,18005734,17880940,17477817,17181634,17116765,16920161,16697656,16171819,15233997,15004750,12477932,12010658,11888273,10339405,9694076,9425112,9417943,8994971,8668211,8366289,8234245,7627809,6310510,6170983,6164056,6163083,6162107,6159538,6159537,3906813,2049076,1834641,1385305,9343822,9865497,7913356,17180012,16278001,15481145,8345204,7904170,7526537,1381203,7583919,1905933,2552026,8661419,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572 3440 AL353732,AY532915,CH471071,J00207,M28028,M29883,S64979,NM_000605,S64991,S64994,Y11834,AY255838,CR541921,M54886,V00544,V00548,BC074936,BC074937,BC104163,BC104164,V00549 NP_000596,CAH72906,AAS92248,EAW58611,AAB59402,AAA36119,AAA52715,AAD13960,AAD13961,AAD13962,CAA72532,CAG46719,AAA59181,CAA23805,AAP20099,AAH74936,AAH74937,AAI04164,AAI04165,CAA23809,CAA23810,P01563,Q14645,Q16054,Q16055,Q6DJX8,Q6QNB6,Q86UP4,Q9UMA4 Hs.211575 GDB:136359 IFNA|INFA2|MGC125764|MGC125765 protein-coding 1344688 IFNA21 interferon, alpha 21 1580863 6163083,15489334,12477932,9425112,9027905,8910771,8668211,6548765,1385305 3452 NM_002175,AL390882,CH471071,BC069329,BC069372,BC069408,BC096699,BC101638,BC101640,M12350,M28586,V00540,X00145 NP_002166,CAH70157,EAW58623,AAH69329,AAH69372,AAH69408,AAH96699,AAI01639,AAI01641,AAA52718,AAA36041,CAA23801,CAA24980,P01568 Hs.113211 GDB:136360 MGC126687|MGC126689 protein-coding 1314896 IFNA4 interferon, alpha 4 1580863 3891272,15489334,15164053,15163721,12477932,9425112,9335434,8668211,6089830,4057246,1385305 3441 NM_021068,AL512606,CH471071,CS054853,X02955,BC074965,BC074966,BC113640,BC113642,M27318 NP_066546,CAH71188,EAW58621,CAI75147,CAA26701,AAH74965,AAH74966,AAI13641,AAI13643,AAA52726,P05014,Q14CS4 Hs.1510 GDB:136361 INFA4|MGC142200 protein-coding 1352508 IFNA5 interferon, alpha 5 1580863 6163083,17703412,15489334,15340161,15164053,12477932,10395669,8668211,4057246,1385305 3442 NM_002169,AL162420,CH471071,X02956,BC093755,BC093757,V00541 NP_002160,CAH73189,EAW58615,CAA26702,AAH93755,AAH93757,CAA23802,P01569 Hs.37113 GDB:136362 INFA5 protein-coding 1350617 IFNA6 interferon, alpha 6 1580863 15489334,15340161,15233997,12477932,9425112,8668211,4057246,1385305 3443 NM_021002,AL353732,CH471071,X02958,BC069471,BC096697,BC096710,BC096730,BC098357 NP_066282,CAH72903,EAW58613,CAA26704,AAH69471,AAH96697,AAH96710,AAH96730,AAH98357,P05013,Q5VYQ1 Hs.533470 GDB:136363 protein-coding 1347304 IFNA7 interferon, alpha 7 1580863 2995168,15489334,12477932,9425112,8910771,8668211,6181262,4057246,1385305,9343822,9865497,7913356,17180012,16278001,15481145,8345204,7904170,7526537,1381203,8661419,7583919,1905933,2552026,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16418394,8438572 3444 NM_021057,AL512606,CH471071,X02960,BC074991,BC074992,BC113994,BC114000,M34913 NP_066401,CAH71190,EAW58620,CAA26706,AAH74991,AAH74992,AAI13995,AAI14001,AAA36039,P01567,Q5VV14 Hs.282274 GDB:136364 IFNA-J protein-coding 1345453 IFNA8 interferon, alpha 8 1580863 6163083,17517919,15233997,12477932,9425112,8836918,8668211,6325303,6164048,4057246,1385305 3445 NM_002170,AL353732,CH471071,X03125,BC104828,BC104830,K01900,V00545,V00550 NP_002161,CAH72909,EAW58610,CAA26903,AAI04829,AAI04831,AAA52716,CAA23806,CAA23811,P32881,Q5VYQ3 Hs.73890 GDB:136365 protein-coding 1344393 IFNAP22 interferon, alpha pseudogene 22 8001965,6163083,1385305 3453 NG_005640,AL162420,V00539 Hs.545842 GDB:136366 pseudo 1313408 IFNAR1 interferon (alpha, beta and omega) receptor 1 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral factor. 1580863 7665574,17923090,2153461,8181059,18338947,18166147,18056411,17823081,17667505,17517919,17310065,17125879,17027223,17001036,16624932,16338279,16171819,15990456,15946680,15885318,15589821,15489334,15449939,15337770,15063762,14727154,14647450,14532120,12761564,12697242,12620806,12618863,12554654,12477932,12220192,11786546,11167825,10830953,10542297,9733772,9677371,9373149,9174595,9029147,8626489,8605876,8125298,7559568,7526154,2148760,1834641,1370833,1350660,9225992,16189514,11301323 3454 NM_000629,AF039907,AP000296,AP000297,AP000298,AY654286,CH471079,X60459,AK123813,AK222770,AK222812,BC002590,BC014338,BC021825,BC035603,BC065751,BG116121,CA309858,BG548299,BX537636,CR607541,J03171,R15745 NP_000620,AAT49100,EAX09837,EAX09838,EAX09839,CAA42992,BAC85699,BAD96490,BAD96532,AAH02590,AAH21825,AAA52730,P17181,Q6ZW09,ABM82249,ABM85433 Hs.529400 GDB:120078 AVP|IFN-alpha-REC|IFNAR|IFNBR|IFRC protein-coding 1346107 IFNAR2 interferon (alpha, beta and omega) receptor 2 The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoforms have been found for this gene. 1580863 8798579,11046044,17923090,7588638,8969169,18338947,17697365,17667505,17572016,17517919,17095088,16624932,16518956,16106266,16054712,16000408,15885318,15717316,15449939,15389589,15287740,15286706,15063762,14980076,14647450,12960323,12842042,12618863,12477932,12220192,12218119,12133952,12105218,11888273,11786546,11301323,10830953,10395669,10339405,9121453,8889548,8181059,7759950,7665574,7570186,16189514 3455 NM_000874,NM_207584,AP000292,AP000293,AP000294,AP000295,AY740397,CH471079,L42237,L42238,L42239,L42240,NM_207585,L42241,L42242,L42243,AK293059,BC002793,BC013156,BG715143,BI520056,BM677386,CR541817,CR593774,CR596140,CR603546,CR611634,L41942,L41943,L41944,U29584,X77722,X89772,X89814 NP_997468,NP_000865,NP_997467,AAU21038,EAX09842,EAX09843,EAX09844,EAX09845,EAX09846,AAB46419,AAB46417,AAB46418,BAF85748,AAH02793,CAG46616,AAB46413,AAB46414,AAB46415,AAC50202,CAA54785,CAA61914,CAA61940,P48551,Q15467,Q6FHD7,Q9BUA0,ABM83941,ABM87259 Hs.701988 GDB:568494 IFN-R|IFN-alpha-REC|IFNABR|IFNARB protein-coding 736615 IFNB1 interferon, beta 1, fibroblast 1580863 2414376,3135963,11337497,10918594,10640778,11987821,3872918,10963806,8805651,12120696,18370868,18209079,17985330,17968926,17968925,17675303,17652396,17574024,17560375,17548221,17328045,17215277,17167270,17142768,17079289,16989575,16984921,16954376,16951313,16697656,16631220,16593086,16545883,16505900,16504464,16504056,16338279,16185826,16002711,15767399,15752772,15737993,15652402,15621727,15557158,15489334,15340234,15280450,15163721,15163707,15107417,15004750,14747551,14727154,14519765,14519761,12847277,12761564,12581491,12477932,12405292,12184914,12097388,12096926,12068083,12050353,11972054,11781186,10395669,10229237,9713311,9342320,7532202,6762376,6500557,6183692,6178110,6171735,6164984,6162107,6159597,6159584,6159580,6157601,6157094,3667593,1834641,1708818,10482360,17182689,12089333,7913356,8661419,15481145,9225992,8107259,8083608,16375755 3456 NM_002176,AL390882,CH471071,EF064725,V00534,V00535,BC069314,BC096150,BC096151,BC096152,BC096153,M25460,M28622,V00546,V00547 NP_002167,CAH70160,EAW58625,ABK41908,CAA23795,CAA23796,AAH69314,AAH96150,AAH96151,AAH96152,AAH96153,AAC41702,AAA36040,CAA23807,CAA23808,P01574,Q15943,Q5VWC9 Hs.93177 GDB:120522 IFB|IFF|IFNB|MGC96956 interferon, beta 1 protein-coding 1346018 IFNB3 interferon, beta 3, fibroblast 12009575,6304727,1440058 3457 K03196 GDB:120079 protein-coding 1606106 IFNE1 interferon epsilon 1 17878351,15233997,12975309,12477932 338376 AL353732,AY190045,AY358570,BC100871,BC100872,BC100873,NM_176891 NP_795372,AAO38686,AAQ88933,AAI00872,AAI00873,AAI00874,Q86WN2 Hs.682604 IFN-E|IFNT1|MGC119018|MGC119020|PRO655 protein-coding 737487 IFNG interferon, gamma 1358738,1331525,1580863 17937104,17936906,17922402,17916356,17911610,17900510,17889143,17878156,17875674,17852079,17846855,17845304,17827383,17728221,17714919,17713715,17709420,17700165,17697357,17697145,17682837,17674321,17656678,17655693,17654453,17641061,17641021,17640674,17627763,17612762,17572155,17566759,17552041,17546485,17544674,17532201,17521731,17521325,17138064,17138053,17136124,17121582,17117487,17110450,17097497,17082625,17049266,17035315,17033822,17028199,17026468,17021766,17015683,17013806,17006334,16984280,16970687,16966412,16962335,16961714,16950634,16944293,16938650,16938461,16930778,16919160,16916659,16914208,16903774,16897354,16889932,16873363,16863661,16861684,16861661,16824159,16820703,16785527,16764598,16762155,16754651,16734562,16730575,16724074,16723718,16720107,16718821,16704689,16690980,16689860,16681592,16678358,16672072,17142750,17509455,16621981,15969687,15950283,15944319,15944226,15941525,15935691,15932627,15932621,15931634,15925543,15919929,15905622,15901906,15900487,15890243,15880044,15870936,15858598,15853924,15842590,15841043,15818327,15816837,15815688,15811521,15800938,15784411,15780879,15778222,15773449,15763337,15749687,15733644,15731046,15725351,15718915,15710386,15709194,15708894,15695523,15681825,15681246,15679925,15675129,15674394,16616105,16574426,16567828,16540751,16538877,16504056,16493441,16487180,16484229,16478776,16476013,16474934,16434471,16433832,16430971,16427044,16425360,16421220,16410273,16409297,16403098,16391178,16386594,16378074,16367922,16364177,16323127,16318585,16310045,16302211,16266858,16257975,16243534,16232344,16216674,16210653,16204617,16201318,16183136,16182624,16166103,16148152,16148108,16127458,16115485,16108727,16098562,16085646,16051797,16051377,16051062,16034083,16024856,16024776,16002423,15992611,15985639,15979955,17498265,17495004,17477815,17470541,17456233,17454884,17444864,17441979,17405833,17392368,17392024,17388919,17376993,17373677,17363736,17363708,17355643,17348243,17347451,17304101,17301401,17300840,17276141,17266440,17262717,17261759,17257312,17238853,17237409,17227821,17217140,17215524,17215375,17215337,17211638,17209781,17198275,17182600,17159260,17154717,17152005,17148586,17145371,17142760,10477596,7605994,8557999,18426658,18414898,18410260,18390192,18385742,18366487,18365030,18361939,18361934,18337305,18332247,18312596,18307517,18287963,18287876,18286551,18275349,18275276,18263601,18249037,18230112,18209488,18209080,18205804,18199975,18199828,18192275,18174382,18174256,18174230,18158121,18091521,18077789,18070901,18062835,18056971,18051824,18041006,18039196,17996064,17994425,17989610,17988330,17988266,17986321,17986123,17976320,17974504,17960405,17953379,17947510,15652446,15644127,15643599,15634895,15628695,15624893,15621151,15611657,15604419,15603866,15599305,15585559,15580300,15570643,15556691,15550390,15522880,15511228,15501397,15499631,15498860,15489334,15462469,15458467,15448160,15390286,15381817,15374002,15372109,15367434,15661939,15361241,15347683,15345584,15327519,15324937,15322007,15322002,15316224,15297269,15271977,15265425,15251440,15247172,15235581,15215891,15214940,15207246,15200452,15194285,15189946,15182335,15170937,15166131,15162834,15135368,15120189,15115662,15078471,15068623,15066699,15051500,15041164,15019280,15018649,15007355,15004750,14993214,14992891,14988089,14978096,14976609,14969768,14962095,14959851,14872501,14753294,15361128,14734771,14734640,14704034,14698136,14694183,14692664,14690454,14688135,14681912,14675398,14675394,14661818,14631168,14625191,14607968,14607900,14607827,14602571,14601649,14566095,14558082,14522096,14514772,14511565,14499500,12975380,12968017,12965263,12960156,12944981,12938195,12928400,12917425,12914676,12909463,12890425,12854077,12851716,12850811,12819637,12818128,12813035,12804771,12794718,12788577,12788307,12761564,12754213,12751024,12750172,12738388,12727483,12727482,12700631,12653164,12645529,12633940,12615834,12609526,12595908,12594832,12590978,12588705,12581491,12579348,12558814,12555203,12552499,12548511,12542496,12533683,12531774,12531694,12526950,12507818,12486605,12479817,12477932,12473063,12471139,12451269,12444137,12441140,12438388,12438348,12420205,12401479,12394188,12393446,12389079,12377943,12370385,12370350,12368207,11391238,11354638,11316066,11315919,11298547,11298489,11292301,11266928,11266927,11240951,10986460,10860730,10775602,10446807,10438928,9916748,9743208,8809126,8760410,8679287,8619916,8065455,7818827,7617032,7590734,7587386,6427223,6329718,6305337,6180322,6176945,6173769,3109913,12366695,12358843,12296868,12239181,12232842,12223516,12223098,12219025,12209087,12203138,12192641,12191570,12170266,12165521,12162874,12162871,12105273,12102661,12097398,12089714,12084660,12070781,12060750,12050152,12047360,12042661,12020266,12011077,12006410,11991675,11986939,11986281,11984595,11981433,11980899,11970958,11966872,11964313,11953317,11947926,11943142,11936954,11920321,11906646,11900986,11876761,11865054,11861290,11857344,11857052,11854210,11854199,11841489,11831440,11830476,11821159,11796707,11786536,11781192,11781187,11774563,11772518,11755617,11751951,11700035,11544434,11544427,11528517,11404167,2860101,2514776,2504704,1905983,1902591,1708818,1662603,1525157,1400376,8247028,17023015,16160188,15481145,12089333,9658081,9225992,9108403,8764000,7815507,7511078,15936090,15320903,2452186,10933622,8648753,8706326,8661419,9534962,7583919,1905933,17180012,8537091,8345204,7904170,7526537,16375755,15737643,16427155,16014948,9712080,7523014,8188658,7941321,10358150,8769094,8102828,15638726,8765022,8598486,10388525,7673114,8974399 1358738,1331525 3458 NM_000619,AC007458,AF375790,CH471054,J00219,AF506749,AY044154,AY255837,AY255839,BC070256,V00543,X01992,X13274,X62468,X62469,X62470,X62471,X62472,X62473,X62474,X87308 NP_000610,AAK53058,EAW97180,AAB59534,AAM28885,AAK95388,AAP20098,AAP20100,AAH70256,CAA23804,CAA26022,CAA31639,CAA44325,CAA44326,CAA44327,CAA44328,CAA44329,CAA44330,CAA44331,P01579,Q14609,Q14610,Q14611,Q14612,Q14613,Q14614,Q14615,Q53ZV4,Q8NHY9,Q96LA2 Hs.856 GDB:119329 IFG|IFI interferon gamma protein-coding 1349807 IFNGR1 interferon gamma receptor 1 This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. 1624283,1580863 2971451,2954953,18287876,17986123,17697357,17618444,17572155,17546485,17513528,17477815,17431682,17392024,17348823,17339358,17251453,17166914,17152005,17136124,17030574,17023216,16944293,16867043,16785527,16690980,16563189,16491350,16476014,16233916,16115485,15952126,15756299,15527154,15522878,15494521,15489334,15207788,15182327,15047947,15004750,14763782,14734726,14574404,12851715,12753505,12743658,12543882,12516030,12477932,12454749,12438563,12244188,12165521,12133952,12034035,12027427,12023780,12020266,11865431,11857344,11585785,11438544,11240951,11139207,10986460,9373149,9367779,9112336,8960475,8960473,8889548,8500521,8456300,8443182,8156998,8136357,8125298,7673114,7617032,7514165,7499845,2532616,1826725,16189514,10811850,10192386,10022928,9389728 1624283 3459 NG_007394,AJ490331,AL050337,AY594694,CH471051,U19247,AF056979,AK127636,AK222803,BC005333,BT006814,BU674317,CR594485,CR601864,NM_000416,CR624388,CR625186,DC349115,EF535103,J03143 NP_000407,CAD35933,CAB53062,CAI21592,CAI21593,AAS89302,EAW47931,EAW47932,AAC52064,AAK30623,BAD96523,AAH05333,AAP35460,ABQ00413,AAA52731,P15260,Q14936,Q53GX8,Q53Y96,Q7Z687,Q9BY69 Hs.520414 GDB:120688 CD119|FLJ45734|IFNGR protein-coding 1316782 IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1) This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. 1580863 9616207,8124716,16780588,8910544,18249187,17697357,17618444,17546485,17220333,16944293,16885196,16867043,16690980,16467883,16467876,16115485,15979955,15952126,15924140,15585559,15489334,15182327,15004750,14651967,12477932,12420205,12020266,11679576,11585785,11240951,10830953,7673114,7514165,2141727,15103018,3136170 3460 NM_005534,NG_007570,AP000299,AP000300,AY644470,CH471079,U68755,AI824138,AK292246,BG391103,BC003624,BQ008968,CB992729,CR592484,CR592823,CR596056,CR598065,CR600779,CR602883,CR607346,CR607841,CR614391,CR617048,CR617094,CR617691,CR618682,CR621659,CR624031,U05875,U05877 NP_005525,AAT45458,EAX09834,EAX09835,AAC52066,BAF84935,AAH03624,AAA16955,AAA16956,P38484,ABM83246,ABM86448 Hs.634632 GDB:142306 AF-1|IFGR2|IFNGT1 protein-coding 1319166 IFNK interferon, kappa This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. 1580863 11514542,15340161,15164053,12975309,12391192 56832 NM_020124,AF384048,AL451123,CH471071,AF146759,AF315688,AY358855 NP_064509,AAK63835,CAI13042,EAW58563,AAF67468,AAK01623,AAQ89214,Q9P0W0,AAI40281,AAI41648 Hs.591083 RP11-27J8.1 protein-coding 1353177 IFNP11 interferon pseudogene 11 3461 GDB:136367 1343819 IFNP12 interferon pseudogene 12 3462 GDB:136368 1352704 IFNP20 interferon pseudogene 20 3463 GDB:136369 1346971 IFNP23 interferon pseudogene 23 3464 GDB:136370 1350385 IFNP24 interferon pseudogene 24 8001965 3465 GDB:385667 1351291 IFNR interferon production regulator 1906174,1193239 3466 GDB:119330 1350481 IFNW1 interferon, omega 1 1580863 10835682,1647209,16504056,15621727,15489334,15340161,12477932,3895159,2985969,1834641,1693148,1385305,12089333,7913356 3467 NM_002177,AL390882,CH471071,CQ847553,M11003,U25670,X58822,AY780805,BC069095,BC117290,BC117292,X02669,A12140 NP_002168,CAH70158,EAW58624,CAH18028,AAA52724,AAA70091,CAA41626,AAV49320,AAH69095,AAI17291,AAI17293,CAA26501,P05000,CAA01011 Hs.73010 GDB:134207 protein-coding 1342707 IFNWP15 interferon, omega 15 (pseudogene) 4057246,3857460,1385305 3472 NG_001150,K03013 GDB:136371 pseudo 1342493 IFNWP18 interferon, omega 18 (pseudogene) 15489334,9425112,8910771,6181262,4057246,2995168,1385305 3473 V00531 CAA23792 GDB:136372 pseudo-IFN-alpha-m pseudo 1345875 IFNWP19 interferon, omega 19 (pseudogene) 15233997,1385305 3474 NG_005641,AL353732 GDB:136373 pseudo 1349798 IFNWP2 interferon, omega 2 (pseudogene) 3468 GDB:136374 1349149 IFNWP4 interferon, omega 4 (pseudogene) 3469 GDB:136375 1353743 IFNWP5 interferon, omega 5 (pseudogene) 3470 GDB:136376 1343854 IFNWP9 interferon, omega 9 (pseudogene) 1385305 3471 GDB:136377 69163 IFRD1 interferon-related developmental regulator 1 729090,1580863 7756174,17785449,17317687,16204248,15743821,15489334,12878157,12853948,12691737,12690205,12477932,12198164,12107410,9822615,9722946,9373149,8889548,8125298,8028043,2797820,2467301 729090 3475 NM_001007245,NM_001550,AC002459,AC005192,AC079741,CH236947,CH471070,AK225222,AU280361,BC001272,BI915700,BT019889,BT019890,BX648799,CA389949,CA503278,CR602983,CR614885,CR616001,Y10313 NP_001007246,NP_001541,AAC24562,AAS07421,AAS02003,AAS02004,EAL24375,EAW83462,EAW83463,AAH01272,AAV38692,AAV38693,CAA71366,O00458,Q75M98,Q75M99,Q75MS4 Hs.7879 GDB:9806344 PC4|TIS7 protein-coding 1320999 IFRD2 interferon-related developmental regulator 2 1580863 9050919,16303743,15489334,14702039,12477932,11085536,9722946 7866 NM_006764,CH471055,U73167,AI292274,AK074763,AK097765,BC001327,BC001676,BC007265,BC007437,BI825477,BT019999,CR590665,CR592164,CR599544,CR604048,CR604200,CR609322,CR609875,U09585,Y12395 NP_006755,EAW65069,EAW65070,AAC02728,AAH01327,AAH01676,AAH07265,AAH07437,AAV38802,AAC16924,CAA73027,Q12894,Q5TZV8,Q9UJ88 Hs.315177,Hs.534543 GDB:9864930 FLJ40446|IFNRP|SKMc15|SM15 protein-coding 1602869 IFRG15 interferon responsive gene 15 12477932 64163 AL359853,CH471067,AJ299406,AK289793,NM_022347,BC096704,BC098170,BC098309,BC098348 NP_071742,EAW91065,CAC13974,BAF82482,AAH96704,AAH98170,AAH98309,AAH98348,Q9H496 Hs.655655,Hs.694192 MGC120074|MGC120077 protein-coding 1349473 IFT122 intraflagellar transport 122 homolog (Chlamydomonas) This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 16344560,14702039,12477932,11242542,9373149,8125298 55764 NM_052985,NM_052989,NM_052990,NM_018262,AC080007,AL449212,CH471052,AF244930,AF244931,AF302154,AK000773,AK001759,AK001955,AK022525,AK023000,AK024435,AK057162,AK093440,AK094922,AK096891,AK122965,AK124140,AK223095,AL133565,AL833851,AU123134,BC003045,BC004238,BC028353,CR614053 NP_443711,NP_443715,NP_443716,NP_060732,EAW79245,EAW79246,EAW79247,EAW79248,EAW79249,EAW79250,AAG15427,AAG15428,AAG13415,BAA91888,BAA92000,BAB14077,BAB15725,BAD96815,CAB63718,CAD38710,AAH03045,AAH04238,AAH28353,Q53G36,Q7L8K0,Q8NDL0,Q8TC06,Q9BTY4,Q9H7P3,Q9H9Z0,Q9HAT9,Q9HBG5,Q9HBG6,Q9NUW6,Q9NV68 Hs.655284 GDB:11502519 SPG|WDR10|WDR10p|WDR140 protein-coding 1605413 IFT140 intraflagellar transport 140 homolog (Chlamydomonas) 15489334,14702039,12477932,12421765,11157797,9628581 9742 NM_014714,AE006467,AE006639,AL031705,AL031719,AL031720,AL133297,CH471112,Z97633,AB011162,AB209020,AK001168,AK001797,AK055133,AL080069,BC035577 NP_055529,AAK61285,AAK61287,CAM26342,EAW85642,EAW85643,EAW85644,BAA25516,BAD92257,BAA91917,CAB45696,AAH35577,Q4TT40,Q59GT9,Q96KK0,Q96KK1,Q96RY6,Q96RY7,Q9BR20,Q9NV42,Q9UG52 Hs.389438 DKFZp564L232|FLJ10306|FLJ30571|KIAA0590|WDTC2|c305C8.4|c380F5.1|gs114 protein-coding 731569 IFT172 intraflagellar transport 172 homolog (Chlamydomonas) 14702039,12477932,10788441,10574461 26160 NM_015662,AC074117,CH471053,AB033005,AK055826,AL110218,AL117421,BC008024,BC014849,BC038461,BC047294,BC137126,BC142675,BC142729,CR603740 NP_056477,EAX00571,EAX00572,EAX00573,EAX00574,EAX00575,BAA86493,CAB53678,CAB55914,AAH08024,AAH47294,AAI37127,AAI42676,AAI42730,Q9UG01 Hs.127401 DKFZP434A163|KIAA1179|SLB|osm-1|wim protein-coding 1605017 IFT20 intraflagellar transport 20 homolog (Chlamydomonas) 16189514,16775004,15489334,15337773,14672413,12821668,12477932,9110174,8619474 90410 NM_174887,AC002094,CH471159,AF070643,AY224601,BC002640,BC038094,CR612328 NP_777547,EAW51070,EAW51071,EAW51072,EAW51073,EAW51074,EAW51075,EAW51076,AAP50265,AAH02640,AAH38094,Q8IY31 Hs.705431 protein-coding 1322228 IFT52 intraflagellar transport 52 homolog (Chlamydomonas) 10810093,15489334,14702039,12477932,11780052,11549316,11337467 51098 NM_016004,AL121886,CH471077,Z98752,AF151811,AK001436,AU100321,BC039831,CR594560,CR603535,CR605992,CR610272,CR617796 NP_057088,CAI18925,EAW75953,EAW75954,CAI42316,AAD34048,AAH39831,Q9Y366 Hs.444332 GDB:11505009 C20orf9|CGI-53|NGD5|dJ1028D15.1 chromosome 20 open reading frame 9 protein-coding 1314279 IFT57 intraflagellar transport 57 homolog (Chlamydomonas) 1580863 18188704,11788820,17173859,17142908,16364650,16344560,15314642,14702039,12821668,12745083,12477932,11807533 55081 NM_018010,DA362330,AC012020,AC078855,AC133475,CH471052,AB014762,AF139576,AF245220,AK001009,BC009690,BC011899,CR457251,CR592400,CR597683,CR605606,CR619481,CR626087 Q9NWB7,ABM83976,ABM87297,NP_060480,EAW79730,BAB87803,AAK13588,AAK28373,BAA91466,AAH09690,AAH11899,CAG33532 Hs.412196 GDB:11501380 ESRRBL1|FLJ10147|HIPPI|MHS4R2 estrogen-related receptor beta like 1 protein-coding 1342560 IFT74 intraflagellar transport 74 homolog (Chlamydomonas) 16344560,15489334,14702039,12477932,11683410,9373149,8125298 80173 NM_001099222,NM_025103,NM_001099224,AL355432,AL356133,CH471071,AA888911,AI919195,AK023707,AK026274,AK225570,AY040325,BC023634,BC056875,BC107742,BC113524,BC113526,CR617782,CR621331,DA617917,DB049275,NM_001099223,DB451450 NP_001092693,NP_001092692,NP_079379,NP_001092694,CAH72643,EAW58573,BAB14650,BAB15423,AAK77221,AAH23634,AAI07743,AAI13525,Q3B789,Q5VY34,Q8IUV3,Q96LB3 Hs.145402 CCDC2|CMG-1|CMG1|FLJ22621|MGC111562 coiled-coil domain containing 2 protein-coding 1606252 IFT80 intraflagellar transport 80 homolog (Chlamydomonas) The IFT80 gene encodes a protein with 7 WD40 domains that is a component of the intraflagellar transport (IFT) complex B (Beales et al., 2007 [PubMed 17468754]). The IFT is essential for the development and maintenance of motile and sensory cilia.[supplied by OMIM] 17468754,16641997,14702039,12477932,12421765,10718198 57560 NM_020800,AC024221,AC079594,CH471052,AB037795,AK025109,AK055904,AK125342,AL133045,BC030774,BC036596,BC042027,BC101494,BC113669 NP_065851,EAW78643,EAW78644,EAW78645,EAW78646,EAW78647,EAW78648,BAA92612,CAB61372,AAH42027,AAI01495,AAI13670,Q9P2H3 Hs.478095 ATD2|KIAA1374|MGC126543|WDR56 protein-coding 1606304 IFT81 intraflagellar transport 81 homolog (Chlamydomonas) 15489334,14702039,12549821,12477932,11130971 28981 NM_014055,NM_031473,AC007546,AC009730,CH471054,AF078932,AF139540,AF250326,AF332010,AK000874,AK091549,AK291043,BC004536,BC005396,BC029349,BC108257,CR608549 NP_054774,NP_113661,EAW97897,EAW97898,EAW97899,EAW97900,EAW97901,AAD48091,AAP97269,AAL50343,AAO32947,BAC03690,BAF83732,AAH04536,AAH05396,AAH29349,AAI08258,Q05DP9,Q2YDY1,Q8WYA0 Hs.528382 GDB:11508558 CDV-1|CDV-1R|CDV1|CDV1R|MGC102777|MGC4027 protein-coding 1320207 IFT88 intraflagellar transport 88 homolog (Chlamydomonas) This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene. 14667819,7633404,17264151,16043481,12477932,11329013,11251073,10462374,10200981,9362446,8597639,8191288 8100 NM_175605,NM_006531,AL161772,AL590096,CH471075,AK058172,AK126668,BC030776,BC059357,BG182322,BX640833,U20362 NP_783195,NP_006522,CAI14390,CAI14391,EAX08266,EAX08267,EAX08268,EAX08269,EAX08270,EAX08271,EAX08272,EAX08273,AAH30776,CAE45907,AAA86720,Q13099,Q5SZJ5,Q5VZB1,Q6MZX0,Q8N719,ABW03641,ABW03295 Hs.187376 D13S1056E|DAF19|MGC26259|RP11-172H24.2|TG737|TTC10|hTg737 tetratricopeptide repeat domain 10 protein-coding 1347418 IGAD1 immunoglobulin A (IgA) deficiency susceptibility 1 10090895 10986 GDB:6929077 732872 IGBP1 immunoglobulin (CD79A) binding protein 1 The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signal transduction pathways. 1580863 9647778,16517231,15772651,15489334,14702039,14556245,12477932,11806752,11371618,10508479,10441131,9441740 3476 NM_001551,AL139111,AL158141,CH471132,AK054596,BC004137,BT006736,CR456782,CR591988,CR593604,CR596975,CR597289,CR597909,CR603491,CR604445,CR606253,CR606503,CR613988,Y08915 NP_001542,CAI41587,EAX05355,EAX05356,AAH04137,AAP35382,CAG33063,CAA70119,P78318,ABM83248,ABM86450 Hs.496267 GDB:6916364 ALPHA-4|IBP1 immunoglobulin binding protein 1 protein-coding 1351192 IGES immunoglobulin E concentration, serum 8178175 3478 GDB:371401 70506 IGF1 insulin-like growth factor 1 (somatomedin C) The somatomedins, or insulin-like growth factors (IGFs), comprise a family of peptides that play important roles in mammalian growth and development. IGF1 mediates many of the growth-promoting effects of growth hormone (GH; MIM 139250). Early studies showed that growth hormone did not directly stimulate the incorporation of sulfate into cartilage, but rather acted through a serum factor, termed 'sulfation factor,' which later became known as 'somatomedin' (Daughaday et al., 1972 [PubMed 4550398]). Three main somatomedins have been characterized: somatomedin C (IGF1), somatomedin A (IGF2; MIM 147470), and somatomedin B (MIM 193190) (Rotwein, 1986 [PubMed 3455760]; Rosenfeld, 2003 [PubMed 14657423]).[supplied by OMIM] 1580477,1580863,1598411,1598413,1598415,1598420,1582623,1598442,1598445,1598446,1598454,1598419,1598421,1598422,1598423,1598424,1598425,1598426,1598427,1624297,1580473,1580474,1626121,1626333 9681507,16939403,16935391,16926156,16924115,16888814,16887362,16873705,16868142,16847815,16846747,16840657,16831875,16825188,16820871,16807888,16785149,16778368,16776662,16728464,16724947,16720666,16716629,16716263,16670160,16648498,16645019,16635594,16516166,16498050,16489531,16448675,16433617,16418517,16418515,16412381,16404426,16400188,16394092,16369467,16361587,16352686,16352683,16332723,16330010,16322331,16306230,16306136,16294334,16244494,16215864,16195423,16189249,16161053,16159864,16133873,16115888,16111879,16051222,16044163,16041536,16030120,16019437,15292338,15276114,15272914,15272501,15256976,15256490,15254679,15247132,15240644,15231015,15223841,15221971,15221500,15217931,15211595,15210945,15205474,15187095,15181035,15140223,15135045,15134305,15105834,15098919,15090033,15087580,15086466,15082485,15072640,15067513,17447118,17425608,17418605,17412783,17410466,17396438,17396115,17388800,17387582,17385724,17377412,17377396,17376820,17363459,17363178,17350302,17330866,17320874,17320297,17317669,17311016,17300730,17289909,17289286,17265493,17264182,17255202,17254778,17234973,17218729,17211256,17187018,17179726,17179152,17174724,17166846,17164408,17164371,17156777,17148586,17142521,17133354,17119061,17116217,17113753,17108398,17107821,17096324,17090643,17082888,17066319,17063263,17062892,17051426,17045571,17044098,17033713,17033263,17015410,17010800,17010055,17006543,16998819,16981855,16970944,16969385,16962112,16955207,16953217,16942485,16940243,10749889,10766744,10848592,10448861,12746903,10459853,2752154,14718574,18466350,18401200,18398029,18377765,18349294,18317720,18316725,18316619,18311789,18308828,18301972,18299470,18283040,18237549,18236213,18215216,18199734,18188667,18177247,18174288,18163429,18079201,18079194,18064566,18059035,18050312,18045956,18037753,18031946,18006928,18006148,18003755,17991453,17989724,17975158,17957164,17921143,17920708,17916769,17912004,17911177,17904522,17895313,17888024,17879951,17851271,17827393,17827385,17785698,17761791,17724372,17721831,17709895,17702838,17689128,17668637,17666480,17666477,17666470,17666408,17652764,17651480,17624368,17622956,17617058,17597610,17597108,17581609,17574386,17569567,17566087,17561390,17560756,17560457,17560154,17555512,17546465,17545516,17520698,17509524,17499312,17492509,17486636,17484040,17470458,17458902,16015705,12732844,12730416,12729801,12727948,12716875,12716855,12716804,12714114,12679458,12642873,12631341,12612059,12610514,12592062,12590636,12590635,12571183,12562960,12555073,12545204,12519841,12511011,12509920,12508940,12508929,12508918,12508917,12508916,12508915,12424437,12419777,12397390,12394769,12389335,12388463,12381752,12364325,12356750,12240900,12237896,12236578,12218293,12217887,12213898,16000303,15986122,15956340,15954927,15950665,15941947,15932773,15927083,15894673,15894537,15891958,15888547,15879687,15867218,15849510,15848608,15845624,15844470,15820831,15809062,15797461,15784711,15780948,15767261,15756256,15735081,15734965,15731363,15726267,15695599,15692088,15688209,15678496,15668488,15668470,15661050,15657590,15653207,15641264,15641262,15625284,15618451,15616898,15616244,15611085,15586244,15579776,15576456,15556609,15548698,15537892,15528386,15522943,15517912,15514031,15509657,15505506,15489542,15485651,15477425,15451424,15386404,15358562,15350139,15345670,15331555,15304489,15302607,15302582,15302288,15049048,15047131,15044591,15033949,15033176,14973173,14961074,14764950,14761840,14757186,14749262,14744783,14715837,14714750,14710359,14710346,14710345,14697248,14693733,14691340,14691011,14690534,14684690,14684598,14681231,14674122,14673951,14668202,14657423,14647921,14633859,14631161,14605256,14604834,14602779,14557458,14504195,13130502,12970325,12960100,12949013,12948293,12943991,12937290,12937269,12930919,12919702,12915683,12909598,12891709,12870155,12867429,12865482,12861174,12858577,12843187,12843179,12843178,12842994,12810534,12800944,12791939,12759337,12746292,12734180,12201212,12186542,12175483,12164325,12135360,12135130,12127559,12122101,12115549,12111701,12102164,12095637,12086966,12070137,12062094,12050240,12032677,12021121,12011225,12011046,12006706,12005306,11994678,11994280,11988840,11972897,11964397,11953210,11943599,11937187,11924928,11914026,11914023,11909998,11907830,11904589,11903419,11897674,11896491,11877670,11877395,11867942,11858767,11857446,11834727,11825899,11822578,11787050,11768601,11762714,11735247,11600567,11344214,11319179,11246885,11175789,11161840,11063745,10823924,10391209,10381171,10350456,10226805,10205209,10084601,9853872,9831081,9722589,9497324,9453236,9138096,8939990,8857020,8495408,7916968,7720641,7683646,7511544,6382022,6358902,6189745,4550398,3683205,3455760,3242681,3002851,2982726,2937782,2935423,2082190,2036417,2018498,1852007,1791841,1733942,1372070,1370435,1319992,632300,12787886,12735930,14521955,15604363,10407151 1580477,1598411,1598413,1598415,1598420,1582623,1598442,1598445,1598446,1598454,1598419,1598421,1598422,1598423,1598424,1598425,1598426,1598427,1624297,1580473,1580474,1626121,1626333 3479 NM_000618,NM_001111283,NM_001111284,NM_001111285,AC010202,AY260957,AY790940,CH471054,M12659,M14155,M14156,S85346,X03420,X03421,X03422,X03563,AB209184,BC152321,CR541861,M11568,M27544,M29644,M37484,U40870,X00173,X56773,X56774,X57025 NP_000609,NP_001104753,NP_001104754,NP_001104755,AAO74829,AAV40833,EAW97695,EAW97696,EAW97697,EAW97698,AAA52538,AAA52537,AAB21519,CAA27152,CAA27153,CAA27154,CAA27250,BAD92421,AAI52322,CAG46659,AAA52539,AAA52787,AAA52543,AAA52789,AAA96152,CAA24998,CAA40092,CAA40093,CAA40342,P05019,Q13429,Q14620,Q59GC5,Q5U743,Q6LD41,Q9NP10,Q9UC01,AAI60082,P01343 Hs.160562 GDB:120081 IGFI 1643258,1643266,1643270,1643277,1643452,2289513 BW205_H,BW201_H,BW198_H,BW203_H,BW104_H,BW449_H protein-coding 68997 IGF1R insulin-like growth factor 1 receptor This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. 1624299,1580863,1581313,1626333 11448933,7541045,1846292,7679099,8710868,10829031,10749889,11162456,3003744,18477064,18469701,18349294,18316725,18267106,18249219,18178561,18079201,18079194,18064302,18059487,18050122,17975158,17972051,17918158,17898946,17846171,17786320,17766039,17761519,17724138,17649826,17640993,17634559,17627944,17620336,17586502,17568996,17560756,17525128,17524361,17486080,17442315,17418605,18095062,17349528,17320820,16000560,15954927,15932773,15921396,15914670,15878855,15867218,15820831,15805544,15797461,15689620,15671548,15638375,15629149,15623623,15595626,15564321,15522217,15489334,15472208,15358139,15345673,15334055,15324660,15256055,15254679,15253384,15205474,15181035,15146197,15127203,15059221,15043778,14973173,14769130,14764897,14744783,14737113,14729630,14726697,14722023,14710368,14710366,14710360,14710359,17277889,17264177,17196841,17164371,17145858,17097318,17066319,17065200,17063263,17044098,17016438,17014845,16983186,16981855,16981720,16962112,16891453,16886151,16831875,16827799,16805964,16804965,16793764,16750336,16648580,16647191,17307140,17296734,16595699,16584539,16407661,16382134,16362313,16344560,16328478,16181796,16172123,16127155,16087727,16053920,16037379,16035620,14710354,14697248,14691011,14684825,14657428,14654552,14651979,14633695,14627343,14615489,14597618,14575710,14559999,14551153,14522909,12937141,12884909,12876069,12843179,12821780,12820418,12784091,12771153,12730241,12697834,12644306,12634644,12613967,12603530,12593846,14710355,9581554,9553137,9524259,9506989,9492017,9491374,9480911,9415396,9389554,9355755,9111084,12556535,12493743,12483226,12482592,12477932,12444079,12379772,12220227,12198159,12147227,12138114,12138094,12127559,12105987,12031683,12019176,12005306,11956190,11884618,11867942,11782378,11754068,11724822,11694888,11591350,11463827,11445579,11423532,11316748,11250706,11120746,11094073,11071852,10747872,10655455,10644671,10358067,10026153,9972281,9852124,9745438,9727029,9642287,8999839,8940173,8889548,8875975,8776723,8764099,8697095,8662806,8648195,8621530,8550552,8530377,8247543,8111378,7895674,7642582,7559507,3107886,2948220,2877871,1852007,1851182,1850606,1711844,1316909,15103018,17353931,8626379,15604363 1624299,1581313,1626333 3480 NM_000875,AC055807,AC069029,AC118658,AC118660,AY332722,CH471101,CS238517,M69229,AB425196,AF020763,AY429545,BC010607,BC078157,BC088377,BC107089,BC111046,BC113610,BC113612,BM264223,BQ185364,BX093045,CN414655,CR624013,DA486252,DR007209,X04434 NP_000866,AAP81165,EAX02220,EAX02221,EAX02222,CAJ55819,AAB59399,BAG11657,AAB97676,AAH10607,AAI07090,AAI13611,AAI13613,CAA28030,O43467,P08069,Q3B833,Q96FP4,Q9UCC0 Hs.643120,Hs.653377,Hs.653608 GDB:120082 CD221|IGFIR|JTK13|MGC142170|MGC142172|MGC18216 protein-coding 737149 IGF2 insulin-like growth factor 2 (somatomedin A) This gene encodes a member of the insulin family of polypeptide growth factors that is involved in development and growth. It is an imprinted gene and is expressed only from the paternally inherited allele. It is a candidate gene for eating disorders. There is a read-through, INS-IGF2, which aligns to this gene at the 3' region and to the upstream INS gene at the 5' region. Alternatively spliced transcript variants, encoding either the same or different isoform, have been found for this gene. 1624301,1580863,1626333,2290454 1845984,8968759,6382022,8298652,18349294,18287964,18199734,18085551,18035699,17972051,17919721,17786320,17700581,17667841,17640993,17639583,17635080,17620336,17591929,17569086,17560154,17556377,17488802,17475626,17440932,17407457,17369847,17360667,17341887,17339271,17325026,17310846,17289909,17072986,17012269,16935391,16926156,16888814,16868148,16857788,16750516,16716263,16612114,16603642,16531418,16525660,16518847,16489075,16344718,16344560,16330588,16303743,18006818,10810289,11049980,10884343,10731720,10407151,10342887,10336724,10084601,9972281,9722981,9722589,9497324,9144427,8939990,8889548,8781553,8589713,8424751,7797478,7730145,7683646,7680905,7527339,6382021,6189745,3881277,3683205,3653397,3652904,3476948,12804776,12782403,12765950,12732844,12727212,12719950,12702581,12700030,12637750,12610512,12605037,12586351,12579496,12575534,12558805,12548223,12532445,12519841,12477932,12446294,12388463,12270940,12243757,12127559,12125963,12075589,12032304,12006706,12005306,11969341,11937266,11903044,11889182,11849996,11811790,11793026,11522816,11448941,16251897,16247461,16166779,16115888,16102992,16040806,16037384,16018936,15987847,15970649,15956340,15954927,15935984,15809062,15799974,15797461,15769738,15731405,15706404,15701574,15645136,15642732,15621215,15528386,15498874,15489334,15471867,15359740,15355996,15342556,15298990,15217931,15205474,15191555,15181035,15163116,15140223,15003992,14996863,14764950,14749349,14749262,14718574,14710345,14695992,14645508,14645199,14614750,13679437,12881524,3167054,3002851,2722836,2465304,2450353,1733942,1730789,1714916,1684848,1656956,1569071,658418,16189514 1624301,1626333,2290454 3481 BC000531,BC011786,BC042127,BC053318,BC073756,BE270173,BM667567,BP233290,BT007013,CR592114,CR594359,CR594851,CR601636,CR603060,CR605635,CR607507,CR607524,CR609976,CR614777,CR615897,CR620042,CR622488,CR623431,CR624006,CR626475,NM_000612,NM_001127598,AC132217,AF517226,CH471158,M22373,X03425,X03426,X03427,X03562,X07868,AF318382,AK025719,AK074614,AK126688,AY971350,NM_001007139,DA641853,DQ104203,J03242,M17426,M17863,M29645,S77035,X00910,X06159,X06161,X06160 AAH00531,AAH11786,AAH42127,AAP35659,NP_001007140,NP_000603,NP_001121070,AAM51825,EAX02484,EAX02485,EAX02486,AAA52536,CAA27155,CAA27156,CAA27157,CAA27249,CAA30717,AAL55889,BAC11090,AAY40360,ABD93451,AAA52545,AAA60088,AAA52443,AAA52544,AAB34155,CAA25426,CAA29516,CAA29518,P01344,Q8N2L8,CAA29517,ABM83647,ABM86896 Hs.523414,Hs.700350,Hs.706973 GDB:119331 C11orf43|FLJ22066|FLJ44734|INSIGF|pp9974 insulin-like growth factor 2 protein-coding 1344250 IGF2AS insulin-like growth factor 2 antisense 17289909,12702581,12603530,10731720 51214 NM_016412,AC132217,AY375532,CH471158,AB030733,AL521915,AL545164,AY149295,AY149296,BC142634,BC142691,CR595930,CR602283 NP_057496,AAQ86595,EAX02487,BAA90470,AAP50262,AAP50263,AAI42635,AAI42692,Q6U949,Q7Z711 Hs.272259 GDB:11506153 PEG8 protein-coding 1606571 IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1 This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. 9891060,17353931,18252897,17546046,17296566,17289661,17255263,17212783,17081983,16964243,16778892,16541107,16356927,16049158,15769738,15601260,15355996,15342556,15314207,15282548,15159028,15121863,14767552,14702039,12921532,12532419,12024010,11992722,11973350,10875929,9801297,8132663 10642 AK022617,AK022784,AK074915,AK095573,BP238821,CR624172,DQ227344,NM_006546,AC091133,AC105030,CH471109,AF117106,AF198254 AAF37203,ABB46294,Q9NZI8,AAI52771,AAI56958,NP_006537,EAW94693,EAW94694,EAW94695,EAW94696,AAD09826 Hs.144936 CRD-BP|CRDBP|IMP-1|IMP1|VICKZ1|ZBP1 protein-coding 1606569 IGF2BP2 insulin-like growth factor 2 mRNA binding protein 2 This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains several four KH domains and two RRM domains. It functions by binding to the 5' UTR of the insulin-like growth factor 2 (IGF2) mRNA and regulating IGF2 translation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 9891060,12674497,15618018,18477659,18469204,18430866,18426861,18259684,18162508,17928989,17827400,17804762,17463249,17463248,17463246,17426251,17296566,16049158,15601260,15225648,12477932,10190901,17353931 10644 NM_001007225,NM_006548,AC016961,AC108670,CH471052,AF117107,AI336648,AK290664,AW193691,BC021290,CD110066 NP_001007226,NP_006539,EAW78209,EAW78210,EAW78211,AAD09827,BAF83353,AAH21290,A0A4Z0,Q9Y6M1,ABM83087,ABW03490 Hs.35354 IMP-2|IMP2|VICKZ2|p62 protein-coding 1606570 IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. 9891060,18347170,18260086,17885673,17521698,17316760,17296566,17192788,16814207,16541107,16339295,16049158,15753088,15644775,15601260,15489334,12921532,12690205,12477932,12161597,11992722,11465943,10525192,9178771,17353931 10643 BC065269,BX640800,BX648488,U76705,U97188,NM_006547,AC005082,AC021876,AC079780,CH236948,CH471073,AF117108,BC019258,BC051296 AAH51296,AAH65269,CAE45883,CAH56186,AAD09223,AAC35208,O00425,NP_006538,EAL24257,EAW93786,EAW93787,AAD09828 Hs.700696 DKFZp686F1078|IMP-3|IMP3|KOC1|VICKZ3 protein-coding 732660 IGF2R insulin-like growth factor 2 receptor The protein encoded by this gene is a receptor for both, insulin-like growth factor 2 (IGF2) and mannose 6-phosphate (M6P). The IGF2 and M6P binding sites are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of IGF2. In mice, the homologous gene is expressed only from the maternal chromosome. 1581739,1624323,737793,1580863 10799489,7753549,15078902,18037232,17927214,17850746,17684144,17676485,17620336,17507477,17475626,17407457,17149973,17101778,17081983,17069798,16977309,16868148,16304558,16179614,16172012,15506681,15258139,15181035,15167696,15156403,15003389,14710346,14574404,12959977,12934103,12857727,12754519,12736721,12665524,12603530,12586773,12543777,12399424,12223346,12165733,12149131,12127559,12021353,12005306,11913773,11867533,11811790,11438990,11390366,11387476,11387475,11331585,11081635,10908666,10358067,9892739,9722981,9695949,9590177,9566979,9362483,9361090,8162705,7797478,7511544,7493029,2963003,2957598,1380437,1370435,10829017,12032303,11359012,15782153 1581739,1624323,737793 3482 NM_000876,AF069333,AF109291,AL035691,AL353625,AY293855,CH471051,AB209668,J03528,Y00285 NP_000867,AAL04402,AAF16870,CAI19940,CAH72014,AAP37954,EAW47607,BAD92905,AAA59866,CAA68395,P11717,Q59EZ3 Hs.487062 GDB:120083 CD222|CIMPR|M6P-R|MPR1|MPRI 2289445 BW415_H protein-coding 68640 IGFALS insulin-like growth factor binding protein, acid labile subunit 1624335,1580863,1626121,1626333 1379671,1384485,14718574,18362293,18349294,17726072,17546465,17063263,16404426,16335952,16114275,15616553,15126567,14762184,12477932,12364447,11914026,11591653,10823924,10650966,9786878,9497324,9446566,2473065 1624335,1626121,1626333 3483 NM_004970,AC012180,AF192554,AL031724,CH471112,AK292182,AK315808,BC025681,M86826 NP_004961,AAF06774,CAC36078,EAW85612,BAF84871,BAF98699,AAH25681,AAA36047,P35858,Q8TAY0,ABM82460,ABM85649 Hs.839 GDB:9607263 ALS protein-coding 69038 IGFBP1 insulin-like growth factor binding protein 1 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. 1625238,1580863,1626333 14726451,14718574,14715837,14624764,14568572,12933666,12882925,12870155,12861174,12853948,12843192,12843178,12746836,12746292,12690205,12679458,12571183,12556485,12519841,12493691,12489207,12477932,12466191,12351482,12163461,12153746,12150454,12135130,12119297,12082253,12006706,11972304,11969341,11956162,11834727,11793026,11762714,11752456,11397868,11297622,11050672,10987657,10965886,10810289,10691413,10364674,10352394,10350456,10329650,9408744,8754754,7694877,7683525,7683522,14764802,2454104,17972510,17972051,17914103,17890489,17655506,17640761,17634530,17566087,17485842,17465992,17341623,17300730,17264182,17164371,17113753,17062566,17035411,16973813,16924115,16868142,16809446,16776662,16687408,16404426,16338475,16337840,16306374,16293667,16222695,16118248,16041536,16002526,15987847,15987820,15972819,15959422,15890677,15797461,15736102,15613433,15598684,15489334,15166120,15070959,15070833,7678248,7504269,3419931,2971653,2849945,2478445,2474129,2466665,2461294,2458522,2457513,1718783,1701175,1691735,1373120,10407151 1625238,1626333 3484 AC091524,AY434089,CH236958,CH471128,CS138146,M23592,M23593,M23594,M23595,M59316,M74587,AV695706,BC035263,BC057806,BT019685,NM_000596,CA429917,CR590296,CR590446,CR590810,CR590828,CR591020,CR591191,CR591333,CR591460,CR591493,CR591523,CR591646,CR592108,CR592210,CR592395,CR592435,CR592564,CR592840,CR592847,CR593064,CR593140,CR593474,CR593624,CR593681,CR593730,CR593732,CR593890,CR594263,CR594657,CR594876,CR594968,CR594970,CR594981,CR595235,CR595308,CR595377,CR595563,CR595722,CR595849,CR595859,CR595923,CR595943,CR595981,CR596031,CR596115,CR596125,CR625382,CR625425,CR625430,CR625453,CR625654,CR625677,CR625686,CR625906,CR625916,CR625929,CR616402,CR616424,CR616577,CR616674,CR616903,CR616959,CR617244,CR617631,CR617806,CR617824,CR617913,CR617981,CR618103,CR618173,CR618294,CR618587,CR618725,CR618802,CR618972,CR619099,CR619129,CR619351,CR619516,CR619548,CR619565,CR619689,CR626019,CR626184,CR626214,CR626313,CR626530,CR626753,CR626850,M20841,M31145,X12385,X13405,X15002,Y00856,CR619896,CR619910,CR619921,CR620024,CR620278,CR620526,CR620546,CR621001,CR621476,CR621807,CR621967,CR621982,CR622062,CR622288,CR622311,CR622795,CR623462,CR623910,CR623952,CR624055,CR624100,CR624572,CR625190,CR625230,CR616351,CR602685,CR603126,CR603129,CR603353,CR603560,CR603667,CR603723,CR603912,CR603923,CR604704,CR604841,CR605002,CR605113,CR605273,CR605451,CR605700,CR605762,CR605866,CR606006,CR606011,CR606129,CR606400,CR606620,CR606723,CR606856,CR606977,CR607108,CR607209,CR607229,CR607276,CR607496,CR607533,CR608231,CR608409,CR608815,CR609672,CR609679,CR609741,CR609768,CR609939,CR609990,CR610214,CR610351,CR610645,CR610858,CR610941,CR611438,CR611759,CR611770,CR611935,CR611997,CR612513,CR612646,CR612764,CR613214,CR613237,CR613310,CR613347,CR613395,CR614129,CR614193,CR614258,CR614303,CR614704,CR614706,CR614863,CR615008,CR615190,CR615567,CR615815,CR615923,CR616079,CR616205,CR616234,CR616235,CR596242,CR596353,CR596942,CR596959,CR596968,CR597423,CR597823,CR597836,CR597884,CR597940,CR598148,CR598241,CR598358,CR598506,CR598846,CR598858,CR599338,CR599420,CR599505,CR599566,CR599693,CR599844,CR599914,CR600017,CR600132,CR600152,CR600677,CR600719,CR600747,CR600995,CR601164,CR601177,CR601473,CR601666,CR601760,CR602010,CR602077,CR602114,CR602158,CR602198,CR602277,CR602289,CR602661,CR602679 NP_000587,AAS07553,AAQ96599,EAL23800,EAW61030,EAW61031,CAJ21549,AAA52785,AAA52783,AAA52784,AAH35263,AAH57806,AAV38491,AAA52540,AAA52542,CAA30942,CAA31771,CAA33110,CAA68770,P08833,Q6PEY6 Hs.642938 GDB:120075 AFBP|IBP1|IGF-BP25|PP12|hIGFBP-1 protein-coding 737357 IGFBP2 insulin-like growth factor binding protein 2, 36kDa 1580863,1598911,1626512,1626492,1626482,1626333,1626478,1626479,1626481 17970029,17827400,17655506,17606927,17485236,17475624,17395163,17372210,17369847,17352648,17341887,17289850,17285230,17280861,17113753,17102589,17072950,17071580,17020769,16901920,16893667,16884361,16569642,16543235,16444283,16306230,16183342,15994346,15956340,15932773,15686601,15661050,15651061,15643522,15489334,15171717,15147770,14744083,14710363,14691340,12955485,12907597,12839944,12810534,12794762,12727212,12672024,12575534,12519841,12477932,12102164,12006706,11297622,11063745,10912521,9408744,9156044,8781553,8675597,7680905,7511544,2479552,2465304,1726837,1716260,1714916,1712312,1710112,1697583,1380437,18461161,18437351,18217408,18210156,18210030,17985932,1376411,15735679,10407151 1598911,1626512,1626492,1626482,1626333,1626478,1626479,1626481 3485 AC007563,AC073321,AY398667,CH471063,M69241,S37730,AB209509,AL559513,BC004312,BC009902,BC012769,NM_000597,BC071967,CR590929,CR592781,CR593872,CR594311,CR595316,CR596315,CR601197,CR602232,CR603359,CR603558,CR603833,CR605199,CR606610,CR606726,CR606776,CR607166,CR610845,CR611812,CR613919,CR614828,CR617002,CR618404,CR623237,CR624731,CR625396,CR625740,M35410,X16302,A09809 NP_000588,AAY14661,AAY15079,AAQ87876,EAW70573,AAA36048,AAB22308,BAD92746,AAH04312,AAH09902,AAH12769,AAH71967,AAA03246,CAA34373,P18065,Q59FF1,CAA00862,ABM84376,ABW03553 Hs.438102 GDB:126735 IBP2|IGF-BP53 insulin-like growth factor binding protein 2 protein-coding 736042 IGFBP3 insulin-like growth factor binding protein 3 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863,1626117,1626118,1626120,1626121,1626333,2290013,2290003,2290012,2290015,2290009,2290011,2290028,2290008,2290021,2290004,2290018 17113753,17096329,17085968,17070193,17063263,17056474,17051426,17047053,17044098,17035411,17018785,16969385,16965600,16935391,16915540,16887362,16825320,16793770,16776662,16775172,16763062,16723126,16645643,16617154,16614079,16552541,16543235,16541420,16540651,16489531,16489075,16455777,16448675,17119061,12599210,14576163,11940579,17591901,11971816,14718574,17434920,18450319,18398029,18287864,18177247,18163429,18162523,18084616,18059035,18031946,18006928,17972510,17957164,17952116,17912004,17879951,17827406,17763192,17761791,17724372,17689128,17668637,17655506,17635417,17627014,17624927,17597108,17593323,17567756,17566087,17560154,17555512,17546465,17457048,17453001,17447118,17446556,17434446,17396438,17388800,17350302,17300730,17297462,17293864,17289909,17287408,17264182,17237715,17210081,17187018,16394092,16335952,16322329,16306136,16303743,16275148,16215864,16211216,16210470,16189260,16189247,16181731,16049980,16030120,16015705,15987847,15986122,15959422,15941947,15927849,15894694,15894673,15844718,15817480,17172410,16404426,15809062,15802501,15800934,15781645,15769996,15734965,15703779,15681824,15668470,15661050,15651061,15642732,15642160,15641264,15641262,15625284,15517912,15489334,15485880,15448002,15379965,15340161,15302288,15298948,15282325,15247904,15247132,15221971,15198293,15178549,15140235,15126567,15086466,15070968,15069073,15067329,15066922,15059907,15047131,15014034,14760718,14751238,14744783,14710345,14702039,14693733,14674122,14644829,14598881,14597676,14576164,14561895,12962157,12937269,12926118,12925957,12907612,12870155,12865482,12853948,12810534,12810533,12735930,12730416,12725526,12690205,12590636,12575534,12571851,12571183,12519841,12508918,12506097,12477932,12473575,12242693,12220677,12219010,12213898,12210764,12200149,12163384,12150454,12135130,12127836,12122101,12111701,12068000,12054563,12051736,12011225,12006706,11997031,11959812,11953210,11948969,11914026,11914023,11886859,11804742,11801256,11784719,11762714,11751851,11749962,11600567,11375929,11344214,11319179,11297622,11264294,11238520,10874028,10849447,10811646,10770214,10766744,10650937,10512690,10511594,10407151,10352394,10226805,10218588,10076184,9688635,9497324,9446566,9408744,9389554,9337997,9275067,9252371,8964576,8843739,8708531,8675597,8550744,7566179,7538844,7523391,7508771,2464130,1697583,1695633,1383255,1373120,1293182,1280211 1626117,1626118,1626120,1626121,1626333,2290013,2290003,2290012,2290015,2290009,2290011,2290028,2290008,2290021,2290004,2290018 3486 AK095408,AK095864,AK095869,AK095900,AK095907,AK095974,AK095991,AK097201,AK122873,AK123735,AK125224,AK127537,AK129951,AK130884,AL540642,AU102436,BC000013,BC018962,BC064987,BX640961,CR592956,CR595168,CR598830,CR603591,CR604414,CR605771,CR610513,CR613455,CR615539,CR617495,CR618433,CR619612,CR620276,CR621347,CR625907,DQ884396,DQ884397,DQ884398,M31159,S56205,X64875,NM_001013398,NM_000598,AC091524,CH236958,CH471128,DQ301819,M35878,AF370418,AI142967,AK055632,AK056274,AK075483,AK091706,AK091745,AK092447 BAC87023,AAH00013,AAH18962,AAH64987,ABI63363,ABI63364,ABI63365,AAA52541,CAA46087,P17936,Q6ZSD0,Q71RC0,ABM86270,NP_001013416,NP_000589,AAS07554,EAL23801,EAW61025,EAW61026,EAW61027,EAW61028,EAW61029,ABB96247,AAA52706,AAQ15254 Hs.450230,Hs.697535 GDB:126724 BP-53|IBP3 protein-coding 69043 IGFBP4 insulin-like growth factor binding protein 4 This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. 1580863,1626333 1377672,17824980,17312271,17177834,17071580,17070193,16973813,16924115,16685432,16586492,16540175,15661050,15489334,15204833,15146551,15146197,15062981,14996716,14767471,12970325,12904166,12733722,12477932,12193384,12163000,11297622,11052994,9751498,9722589,9615225,9408744,9275067,9138096,8964576,8889548,8648179,7778269,7689953,7680905,7511544,7507078,1709585,1709161,14705967,1707125,1704481,1380437,1375185,1370941,16189514,11068878,10407151 1626333 3487 CR603382,M38177,NM_001552,AC018629,AY442346,CH471152,U20982,Y12508,AK290810,BC016041,BT019891,BT019892,BU683435,CN431519,M62403 NP_001543,AAR05443,EAW60664,EAW60665,AAA62670,CAA73110,BAF83499,AAH16041,AAV38694,AAV38695,AAB06189,P22692,Q5U012 Hs.462998 GDB:126811 BP-4|HT29-IGFBP|IBP4|IGFBP-4 insulin-like growth factor-binding protein 4 protein-coding 732384 IGFBP5 insulin-like growth factor binding protein 5 1580863,1626120,1626121,1626333 7525452,14718574,18311789,18210156,18161051,18085517,17892529,17823924,17804819,17651454,17595320,17496250,17316888,17312271,17290407,17242174,17071587,17067554,16865675,16716263,16543235,16344560,16311053,16195401,16007340,15930103,15802501,15780948,15777798,15681824,15661050,15650232,15618969,15534875,15489334,15155755,15140223,15001525,14645245,12810534,12777377,12766061,12477932,12466191,12005306,11973331,11923300,11905402,11874691,11821401,11751588,11297622,11264294,11095942,10811646,10766744,10698186,10336724,9883900,9822601,9786878,9528953,9497324,9202242,9110174,8817691,8619474,7511611,7511544,1850258,1850257,1710112,1709938,16189514,15700281,10407151 1626120,1626121,1626333 3488 NM_000599,AC007563,AY534685,CH471063,CS138154,L27559,AF055033,AF147308,AU132181,AV710460,BC008099,BC011453,BC018427,BC032366,BC046102,BC073984,BC089383,BE795293,BM920595,BQ717583,BQ940805,BT019706,BT019707,CD679409,CR456809,DA691367,L27560,M62782,M65062,R71383 NP_000590,AAY14662,AAS16353,EAW70574,EAW70575,CAJ21553,AAA72051,AAC09368,AAH08099,AAH11453,AAH18427,AAV38512,AAV38513,CAG33090,AAA53505,AAD04730,P24593,Q8WV97,Q96HT5 Hs.635441 GDB:126837 IBP5 insulin-like growth factor-binding protein 5 protein-coding 735616 IGFBP6 insulin-like growth factor binding protein 6 1580863,1626333 7539002,10087296,18039785,17978469,17519236,16713569,15889232,15797461,15661050,15489334,15366928,15308688,14710364,12558805,12477932,12006706,11914024,11297622,11267670,10414596,10329650,9572875,7692907,7683646,7683540,7511544,2551732,2154495,1850258,1850257,1719383,1709161,1697583,10407151 1626333 3489 NM_002178,AC073573,AF297519,AJ006952,AY443494,CH471054,CS138156,BC003507,BC005007,BC010162,BC011708,BQ925731,CB048388,CR541791,CR590705,M62402,M69054 NP_002169,AAG37059,CAA07346,AAR05445,EAW96664,CAJ21554,AAH03507,AAH05007,AAH10162,AAH11708,CAG46590,AAB06187,AAA88070,P24592,Q9H2B5,ABM83921,ABM87242 Hs.274313 GDB:127456 IBP6 protein-coding 1314683 IGFBP7 insulin-like growth factor binding protein 7 1580863,1626516,1626565,1626551 8939990,18267069,17972510,17465992,17136345,17048309,16873698,16302002,15708897,15489334,15340161,15077158,14633696,14521955,12847218,12843194,12679483,12592389,12477932,12407018,12065244,11549700,10985926,10859029,10820148,10595934,10502291,17312390,9388210,9313760,9100611,7980422,7694637,7538673 1626516,1626565,1626551 3490 NM_001553,AC069307,AC111197,AY518539,CH471057,CS138158,AF540057,BC017201,BC066339,BT006654,CR599263,CR607474,CR612946,CR615138,CR619194,CR619713,CR626227,L19182,S75725 NP_001544,AAR89912,EAX05520,EAX05521,CAJ21555,AAN23122,AAH17201,AAH66339,AAP35300,AAA16187,AAB32370,Q16270 Hs.479808 GDB:9835154 FSTL2|IGFBP-7|IGFBP-7v|IGFBPRP1|MAC25|PSF protein-coding 1313812 IGFBPL1 insulin-like growth factor binding protein-like 1 17634530,15845387 347252 NM_001007563,AL135785,CH471071,AK131521 NP_001007564,CAD13245,EAW58251,Q8WX77,AAI46372 Hs.349705 IGFBP-RP4|bA113O24.1 protein-coding 1602630 IGFL1 IGF-like family member 1 IGFL1 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,15340161,12975309 374918 NM_198541,AC006262,AY359013,AY672111 NP_940943,AAQ89372,AAT77785,Q6UW32,AAI52956 Hs.546554 UNQ644 protein-coding 1604232 IGFL2 IGF-like family member 2 IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,14702039,12975309 147920 NM_001002915,AC007785,CH471126,AK093330,AK125754,AY358692,AY672112,BC130490,BC130492 NP_001002915,EAW57405,BAC86275,AAQ89055,AAT77786,AAI30491,AAI30493,Q6UWQ7,Q6ZUF0 Hs.99376 UNQ645|VPRI645 protein-coding 1603833 IGFL3 IGF-like family member 3 IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,15340161,14702039,12975309 388555 NM_207393,AC007785,CH471126,AY358434,AY672113,BC130593,BC130597 NP_997276,EAW57403,EAW57404,AAQ88800,AAT77787,AAI30594,AAI30598,Q6UXB1 Hs.365496 UNQ483 protein-coding 1606353 IGFL4 IGF-like family member 4 IGFL4 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM] 16890402,14702039 444882 NM_001002923,AC007785,AY672114 NP_001002923,AAT77788,Q6B9Z1 Hs.531310 protein-coding 1606752 IGFN1 immunoglobulin-like and fibronectin type III domain containing 1 12477932,15385448 91156 NM_178275,AC103925,CH471067,AY245430,BC033185,BC131529,AL137493 NP_840059,EAW91347,EAW91348,EAW91349,AAO92932,AAI31530,Q86VF2,CAB70770 Hs.519024 DKFZp434B1231|EEF1A2BP1 protein-coding 735342 IGH@ immunoglobulin heavy locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V, D, J, and C segments are known to be incapable of encoding a protein and are considered pseudogenes. 15703784,15607820,15191563,15010366,14702039,12477932,12370427,12114543,9841928,9294139,7486559,6817141,6101209,3243276,3144456,2518659,16194898,15716988,17940204 3492 NG_001019,AB019437,AB019438,AB019439,AB019440,AB019441,AL122127,AL901608,AL928742,AL928761,AL928762,AL928765,AL928767,AL928768,AL928769,AK097306,AK128421,AK130609,AK130614,AK131045,BC065733,BC073766 BAC04996,BAC87432,BAC85393,BAC85395,BAC85483,AAH65733,AAH73766,Q6P089,Q8WUX4 Hs.510635,Hs.648398 GDB:118731 IGH|IGH.1@|IGHDY1|MGC72071|MGC88774 protein-coding 1346650 IGHA1 immunoglobulin heavy constant alpha 1 1580863 3493 P01876 J00220 GDB:119332 1348714 IGHA2 immunoglobulin heavy constant alpha 2 (A2m marker) 1580863 3494 P01877 J00221 GDB:119333 1350194 IGHD immunoglobulin heavy constant delta 3922054 3495 K02875 GDB:120084 1345249 IGHD1-1 immunoglobulin heavy diversity 1-1 28510 X97051 GDB:9953175 1354042 IGHD1-14 immunoglobulin heavy diversity 1-14 28508 X13972 GDB:9953263 1351176 IGHD1-20 immunoglobulin heavy diversity 1-20 28507 X97051 GDB:9953265 1350759 IGHD1-26 immunoglobulin heavy diversity 1-26 28506 X97051 GDB:9953226 1349058 IGHD1-7 immunoglobulin heavy diversity 1-7 28509 X13972 GDB:9953261 1349991 IGHD1OR15-1A immunoglobulin heavy diversity 1/OR15-1A 28335 X55575 GDB:9953376 1353423 IGHD1OR15-1B immunoglobulin heavy diversity 1/OR15-1B 28334 X55576 GDB:9953378 1342526 IGHD2-15 immunoglobulin heavy diversity 2-15 28503 J00234 GDB:9953292 1354181 IGHD2-2 immunoglobulin heavy diversity 2-2 28505 J00232 GDB:9953230 1344020 IGHD2-21 immunoglobulin heavy diversity 2-21 28502 J00235 GDB:9953294 1345450 IGHD2-8 immunoglobulin heavy diversity 2-8 28504 X13972 GDB:9953278 1349984 IGHD2OR15-2A immunoglobulin heavy diversity 2/OR15-2A 28333 X55577 GDB:9953380 1354189 IGHD2OR15-2B immunoglobulin heavy diversity 2/OR15-2B 28332 X55578 GDB:9953382 1343093 IGHD3-10 immunoglobulin heavy diversity 3-10 28499 X13972 GDB:9953300 1345636 IGHD3-16 immunoglobulin heavy diversity 3-16 28498 X93614 GDB:9953302 1343339 IGHD3-22 immunoglobulin heavy diversity 3-22 28497 X93616 GDB:9953304 1346423 IGHD3-3 immunoglobulin heavy diversity 3-3 28501 X13972 GDB:9953296 1350367 IGHD3-9 immunoglobulin heavy diversity 3-9 28500 X13972 GDB:9953298 1347540 IGHD3OR15-3A immunoglobulin heavy diversity 3/OR15-3A 28331 X55579 GDB:9953384 1352575 IGHD3OR15-3B immunoglobulin heavy diversity 3/OR15-3B 28330 X55580 GDB:9953386 1352299 IGHD4-11 immunoglobulin heavy diversity 4-11 28495 X13972 GDB:9953308 1343733 IGHD4-17 immunoglobulin heavy diversity 4-17 28494 X97051 GDB:9953310 1349127 IGHD4-23 immunoglobulin heavy diversity 4-23 28493 X97051 GDB:9953312 1343295 IGHD4-4 immunoglobulin heavy diversity 4-4 28496 X13972 GDB:9953306 1346326 IGHD4OR15-4A immunoglobulin heavy diversity 4/OR15-4A 28329 X55581 GDB:9953388 1345433 IGHD4OR15-4B immunoglobulin heavy diversity 4/OR15-4B 28328 X55582 GDB:9953390 1343288 IGHD5-12 immunoglobulin heavy diversity 5-12 28491 X13972 GDB:9953316 1347741 IGHD5-18 immunoglobulin heavy diversity 5-18 28490 X97051 GDB:9953318 1345663 IGHD5-24 immunoglobulin heavy diversity 5-24 28489 X97051 GDB:9953320 1342624 IGHD5-5 immunoglobulin heavy diversity 5-5 28492 X13972 GDB:9953314 1347784 IGHD5OR15-5A immunoglobulin heavy diversity 5/OR15-5A 28327 X55583 GDB:9953392 1349051 IGHD5OR15-5B immunoglobulin heavy diversity 5/OR15-5B 28326 X55584 GDB:9953394 1345774 IGHD6-13 immunoglobulin heavy diversity 6-13 28487 X13972 GDB:9953324 1352860 IGHD6-19 immunoglobulin heavy diversity 6-19 28486 X97051 GDB:9953326 1345741 IGHD6-25 immunoglobulin heavy diversity 6-25 28485 X97051 GDB:9953328 1350749 IGHD6-6 immunoglobulin heavy diversity 6-6 28488 X13972 GDB:9953322 1343137 IGHD7-27 immunoglobulin heavy diversity 7-27 28484 J00256 GDB:9953330 1344397 IGHD@ immunoglobulin heavy diversity group 50648 GDB:9992625 1342512 IGHDOR15@ immunoglobulin heavy diversity orphans on chromosome 15 3496 GDB:119334 735929 IGHE immunoglobulin heavy chain (epsilon polypeptide) 1580863 3497 P01854 J00222 GDB:119335 1343761 IGHEP1 immunoglobulin heavy constant epsilon P1 6811139 3498 NG_001019,AL901608,J00223 GDB:119336 pseudo 1347177 IGHEP2 immunoglobulin heavy constant epsilon P2 6964396,6327276 3499 NG_003254,AL161450,K01241 GDB:119337 pseudo 1344505 IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 1580863 3500 P01857 J00228 GDB:120085 1346969 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) 1580863 3501 P01859 J00230 GDB:119338 1344522 IGHG3 immunoglobulin heavy constant gamma 3 (G3m marker) 1580863 6808505 3502 P01860 M12958 GDB:119339 1346926 IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) 1580863 3503 P01861 K01316 GDB:119340 1353476 IGHGP immunoglobulin heavy constant gamma P 3130612 3505 NG_001019,AL928761,AL928769,X06766 GDB:120689 IGHGP1 pseudo 1343195 IGHJ1 immunoglobulin heavy joining 1 28483 J00256 GDB:9953332 1346458 IGHJ1P immunoglobulin heavy joining 1P 6795593,6101209 28482 NG_001019,AL122127,J00256,X97051 GDB:9953334 J-psi-1 pseudo 1345753 IGHJ2 immunoglobulin heavy joining 2 28481 J00256 GDB:9953336 1351196 IGHJ2P immunoglobulin heavy joining 2P 6795593,6101209 28480 NG_001019,AL122127,J00256,X97051 GDB:9953338 pseudo 1348500 IGHJ3 immunoglobulin heavy joining 3 28479 J00256 GDB:9953340 1348203 IGHJ3P immunoglobulin heavy joining 3P 6795593,6101209 28478 NG_001019,AL122127,J00256,X97051 GDB:9953342 pseudo 1345182 IGHJ4 immunoglobulin heavy joining 4 28477 J00256 GDB:9953344 1353534 IGHJ5 immunoglobulin heavy joining 5 28476 J00256 GDB:9953346 1344075 IGHJ6 immunoglobulin heavy joining 6 28475 J00256 GDB:9953348 1345981 IGHJ@ immunoglobulin heavy joining group 3506 GDB:120741 1350926 IGHM immunoglobulin heavy constant mu 1580863 2115996 3507 P01871 X14940 GDB:120086 68450 IGHMBP2 immunoglobulin mu binding protein 2 737748,1580863 8349627,15231747,8493094,16964485,16752224,15797190,15599641,15290238,15106121,14702039,14681881,12547203,12477932,11528396,11292846,10049831,9507986,9439975,1714899 737748 3508 NM_002180,AP000808,CH471076,L24544,AB208802,AK091539,AK123166,BC000290,BC015666,BC025299,BC041808,BC052278,BC062312,BC080519,BC105088,BC105090,BE302389,DB448398,L14754,M64979 NP_002171,EAW74729,AAA70430,BAD92039,AAH00290,AAH25299,AAI05089,AAI05091,AAA53082,AAA58611,P38935 Hs.503048 GDB:434023 CATF1|FLJ34220|FLJ41171|HCSA|HMN6|SMARD1|SMUBP2 protein-coding 1347621 IGHR immunoglobulin heavy chain regulator 314310 8117 GDB:9954529 1348528 IGHV1-12 immunoglobulin heavy variable 1-12 3396540 28471 NG_001019,AB019440,X92210 GDB:9931663 1-12P|IGHV112 pseudo 1343395 IGHV1-14 immunoglobulin heavy variable 1-14 8490662 28470 NG_001019,AB019440,M99639 GDB:9931664 1-14P|IGHV114 pseudo 1348399 IGHV1-17 immunoglobulin heavy variable 1-17 8490662 28469 NG_001019,AB019440,M99640 GDB:9931665 1-17P|IGHV117 pseudo 1344964 IGHV1-18 immunoglobulin heavy variable 1-18 28468 M99641 GDB:9931666 1343919 IGHV1-2 immunoglobulin heavy variable 1-2 28474 X07448 GDB:9931660 1347610 IGHV1-24 immunoglobulin heavy variable 1-24 28467 M99642 GDB:9931667 1346480 IGHV1-3 immunoglobulin heavy variable 1-3 28473 X62109 GDB:9931661 1348342 IGHV1-45 immunoglobulin heavy variable 1-45 28466 X92209 GDB:9931668 1344951 IGHV1-46 immunoglobulin heavy variable 1-46 28465 X92343 GDB:9931669 1352108 IGHV1-58 immunoglobulin heavy variable 1-58 28464 M29809 GDB:9931670 1343652 IGHV1-67 immunoglobulin heavy variable 1-67 3396540 28463 NG_001019,AB019437,X92212 GDB:9931671 1-67P|IGHV167 pseudo 1346241 IGHV1-68 immunoglobulin heavy variable 1-68 9841928 28462 NG_001019,AB019437 GDB:9931672 1-68P|IGHV168 pseudo 1348898 IGHV1-69 immunoglobulin heavy variable 1-69 8469934 28461 L22582 GDB:9931673 1353470 IGHV1-8 immunoglobulin heavy variable 1-8 28472 M99637 GDB:9931662 1352686 IGHV1-C immunoglobulin heavy variable 1-C (provisional) 28460 Z18904 GDB:9931674 1353582 IGHV1-F immunoglobulin heavy variable 1-F (provisional) 28458 Z12305 GDB:9931676 1348025 IGHV1OR15-1 immunoglobulin heavy variable 1/OR15-1 2841108,8801417,7951227,7681398 388077 AC010760,Z29631 P23083 GDB:9931784 IGHV1/OR15-1|IGHV1OR151 pseudo 1345401 IGHV1OR15-2 immunoglobulin heavy variable 1/OR15-2 7959766 28324 L25543 GDB:9931787 IGHV1OR152 pseudo 1354167 IGHV1OR15-3 immunoglobulin heavy variable 1/OR15-3 8801417,7951227 28323 Z29595 GDB:9953396 IGHV1OR153 pseudo 1349977 IGHV1OR15-4 immunoglobulin heavy variable 1/OR15-4 8801417,7951227 28322 Z29596 GDB:9931789 IGHV1OR154 pseudo 1347404 IGHV1OR15-5 immunoglobulin heavy variable 1/OR15-5 8801417,7951227 28321 Z29633 GDB:9953398 IGHV1OR155 pseudo 1343504 IGHV1OR15-6 immunoglobulin heavy variable 1/OR15-6 8801417,7951227 28320 Z29634 GDB:9931790 IGHV1OR156 pseudo 1346109 IGHV1OR15-9 immunoglobulin heavy variable 1/OR15-9 28319 L25542 GDB:9931791 1347538 IGHV1OR16-1 immunoglobulin heavy variable 1/OR16-1 8801417,7951227 28315 Z29599 GDB:9953402 IGHV1OR161 pseudo 1345090 IGHV1OR16-2 immunoglobulin heavy variable 1/OR16-2 8801417,7951227 28314 Z29600 GDB:9953404 IGHV1OR162 pseudo 1346809 IGHV1OR16-3 immunoglobulin heavy variable 1/OR16-3 8801417,7951227 28313 Z29639 GDB:9931793 IGHV1OR163 pseudo 1353063 IGHV1OR16-4 immunoglobulin heavy variable 1/OR16-4 8801417,7951227 28312 Z17397 GDB:9931794 IGHV1OR164 pseudo 1347037 IGHV2-10 immunoglobulin heavy variable 2-10 8490662 28456 NG_001019,AB019440,M99647 GDB:9931678 2-10P|IGHV210 pseudo 1352011 IGHV2-26 immunoglobulin heavy variable 2-26 28455 M99648 GDB:9931679 1343940 IGHV2-5 immunoglobulin heavy variable 2-5 28457 X62111 GDB:9931677 1347322 IGHV2-70 immunoglobulin heavy variable 2-70 28454 L21969 GDB:9931680 1342973 IGHV2OR16-5 immunoglobulin heavy variable 2/OR16-5 28311 L25544 GDB:9931795 1347525 IGHV3-11 immunoglobulin heavy variable 3-11 28450 M99652 GDB:9931684 1342657 IGHV3-13 immunoglobulin heavy variable 3-13 28449 X92217 GDB:9931685 1349268 IGHV3-15 immunoglobulin heavy variable 3-15 28448 X92216 GDB:9931686 1352635 IGHV3-16 immunoglobulin heavy variable 3-16 28447 M99655 GDB:9931687 1350977 IGHV3-19 immunoglobulin heavy variable 3-19 8490662 28446 NG_001019,AB019440,M99656 GDB:9931688 3-19P|IGHV319 pseudo 1346799 IGHV3-20 immunoglobulin heavy variable 3-20 28445 M99657 GDB:9931689 1348697 IGHV3-21 immunoglobulin heavy variable 3-21 28444 Z14073 GDB:9931690 1344900 IGHV3-22 immunoglobulin heavy variable 3-22 8490662 28443 NG_001019,AB019439,M99659 GDB:9931691 3-22P|IGHV322 pseudo 1348199 IGHV3-23 immunoglobulin heavy variable 3-23 28442 M99660 GDB:9931692 1348527 IGHV3-25 immunoglobulin heavy variable 3-25 8490662 28441 NG_001019,AB019439,M99661 GDB:9931693 3-25P|IGHV325 pseudo 1353560 IGHV3-29 immunoglobulin heavy variable 3-29 8490662 28440 NG_001019,AB019439,M99662 GDB:9931694 3-29P|IGHV329 pseudo 1343472 IGHV3-30 immunoglobulin heavy variable 3-30 28439 M83134 GDB:9931735 1346450 IGHV3-30-2 immunoglobulin heavy variable 3-30-2 9841928 28438 NG_001019,AB019439 GDB:9931695 3-30.2P|IGHV3302 pseudo 1344854 IGHV3-30-3 immunoglobulin heavy variable 3-30-3 57290 X92283 GDB:9931696 1352029 IGHV3-30-5 immunoglobulin heavy variable 3-30-5 89770 M83134 GDB:9931697 1351122 IGHV3-32 immunoglobulin heavy variable 3-32 8490662 28435 NG_001019,AB019439,M99664 GDB:9931698 3-32P|IGHV332 pseudo 1353105 IGHV3-33 immunoglobulin heavy variable 3-33 28434 L06618 GDB:9931699 1348003 IGHV3-33-2 immunoglobulin heavy variable 3-33-2 9841928 28433 NG_001019,AB019439 GDB:9931700 3-33.2P|IGHV3332 pseudo 1349084 IGHV3-35 immunoglobulin heavy variable 3-35 28432 M99666 GDB:9931701 1352462 IGHV3-36 immunoglobulin heavy variable 3-36 8490662 28431 NG_001019,AB019439,M99667 GDB:9931702 3-36P|IGHV336 pseudo 1343901 IGHV3-37 immunoglobulin heavy variable 3-37 8490662 28430 NG_001019,AB019439,M99668 GDB:9931703 3-37P|IGHV337 pseudo 1347017 IGHV3-38 immunoglobulin heavy variable 3-38 28429 M99669 GDB:9931704 1347203 IGHV3-41 immunoglobulin heavy variable 3-41 8490662 28428 NG_001019,AB019438,M99670 GDB:9931705 3-41P|IGHV341 pseudo 1350820 IGHV3-42 immunoglobulin heavy variable 3-42 8490662 28427 NG_001019,AB019438,M99671 GDB:9931706 3-42P|IGHV342 pseudo 1354279 IGHV3-43 immunoglobulin heavy variable 3-43 28426 M99672 GDB:9931707 1344678 IGHV3-47 immunoglobulin heavy variable 3-47 28425 NG_001019,AB019438,Z18900 CAA79337 GDB:9931708 3-47P|IGHV347 pseudo 1347962 IGHV3-48 immunoglobulin heavy variable 3-48 28424 M99675 GDB:9931709 1350036 IGHV3-49 immunoglobulin heavy variable 3-49 28423 M99676 GDB:9931710 1349926 IGHV3-50 immunoglobulin heavy variable 3-50 8490662 28422 NG_001019,AB019438,M99677 GDB:9931711 3-50P|IGHV350 pseudo 1343056 IGHV3-52 immunoglobulin heavy variable 3-52 8490662 28421 NG_001019,AB019438,M99678 GDB:9931712 3-52P|IGHV352 pseudo 1346658 IGHV3-53 immunoglobulin heavy variable 3-53 28420 M99679 GDB:9931713 1345313 IGHV3-54 immunoglobulin heavy variable 3-54 8490662 28419 NG_001019,AB019437,AB019438,M99680 GDB:9931714 3-54P|IGHV354 pseudo 1353392 IGHV3-57 immunoglobulin heavy variable 3-57 3097326 28418 NG_001019,AB019437,AB019438,M29815 GDB:9931715 3-57P|IGHV357 pseudo 1349278 IGHV3-6 immunoglobulin heavy variable 3-6 8490662 28453 NG_001019,AB019440,M99650 GDB:9931681 3-06P|IGHV36 pseudo 1348267 IGHV3-60 immunoglobulin heavy variable 3-60 3097326 28417 NG_001019,AB019437,AB019438,M29813 GDB:9931716 3-60P|IGHV360 pseudo 1353459 IGHV3-62 immunoglobulin heavy variable 3-62 3097326 28416 NG_001019,AB019437,M29814 GDB:9931717 3-62P|IGHV362 pseudo 1344815 IGHV3-63 immunoglobulin heavy variable 3-63 8490662 28415 NG_001019,AB019437,M99681 GDB:9931718 IGHV363|V3-63P pseudo 1343103 IGHV3-64 immunoglobulin heavy variable 3-64 28414 M99682 GDB:9931719 1345177 IGHV3-65 immunoglobulin heavy variable 3-65 7920635 28413 NG_001019,AB019437,Z27503 GDB:9931720 3-65P|IGHV365 pseudo 1349969 IGHV3-66 immunoglobulin heavy variable 3-66 28412 X92218 GDB:9931736 1349213 IGHV3-7 immunoglobulin heavy variable 3-7 28452 M99649 GDB:9931682 1346092 IGHV3-71 immunoglobulin heavy variable 3-71 9841928 28411 NG_001019,AB019437 GDB:9931721 3-71P|IGHV371 pseudo 1349216 IGHV3-72 immunoglobulin heavy variable 3-72 28410 X92206 GDB:9931722 1352640 IGHV3-73 immunoglobulin heavy variable 3-73 28409 Z27508 GDB:9931723 1354426 IGHV3-74 immunoglobulin heavy variable 3-74 28408 Z12353 GDB:9931724 1345151 IGHV3-75 immunoglobulin heavy variable 3-75 7920635 28407 NG_001019,AB019437,Z27510 GDB:9931725 3-75P|IGHV375 pseudo 1343224 IGHV3-76 immunoglobulin heavy variable 3-76 1404388 28406 NG_001019,AB019437,Z12341 GDB:9931726 3-76P|IGHV376 pseudo 1342713 IGHV3-79 immunoglobulin heavy variable 3-79 9841928 28405 NG_001019,AB019437 GDB:9931727 3-79P|IGHV379 pseudo 1348416 IGHV3-9 immunoglobulin heavy variable 3-9 28451 M99651 GDB:9931683 1349343 IGHV3-D immunoglobulin heavy variable 3-D (provisional) 28404 Z18898 GDB:9931729 1342573 IGHV3-G immunoglobulin heavy variable 3-G (provisional) 1404388 28403 Z12336 GDB:9931728 IGHV3G pseudo 1350957 IGHV3-H immunoglobulin heavy variable 3-H (provisional) 28402 Z29981 GDB:9931730 1350117 IGHV3OR15-7 immunoglobulin heavy variable 3/OR15-7 8801417,7951227 28318 Z29597 CAA82714 GDB:9931792 IGHV3OR157 pseudo 1350716 IGHV3OR16-10 immunoglobulin heavy variable 3/OR16-10 28306 Z29607 GDB:9953410 1353123 IGHV3OR16-11 immunoglobulin heavy variable 3/OR16-11 8801417,7951227 28305 Z29608 GDB:9953412 IGHV3OR1611 pseudo 1345362 IGHV3OR16-12 immunoglobulin heavy variable 3/OR16-12 28304 Z29609 GDB:9953414 1347647 IGHV3OR16-13 immunoglobulin heavy variable 3/OR16-13 28303 Z29610 GDB:9953416 1352012 IGHV3OR16-14 immunoglobulin heavy variable 3/OR16-14 8801417,7951227 28302 Z29611 GDB:9953418 IGHV3OR1614 pseudo 1349167 IGHV3OR16-15 immunoglobulin heavy variable 3/OR16-15 7959766 28301 L25546 GDB:9953420 IGHV3OR1615 pseudo 1352619 IGHV3OR16-16 immunoglobulin heavy variable 3/OR16-16 8801417,7951227 28300 Z29613 GDB:9953422 IGHV3OR1616 pseudo 1353699 IGHV3OR16-6 immunoglobulin heavy variable 3/OR16-6 7959766 28310 L25545 GDB:9953406 IGHV3OR166 pseudo 1344354 IGHV3OR16-7 immunoglobulin heavy variable 3/OR16-7 8801417,7951227 28309 Z29604 GDB:9931796 IGHV3OR167 pseudo 1349246 IGHV3OR16-8 immunoglobulin heavy variable 3/OR16-8 28308 Z29605 GDB:9931797 1352799 IGHV3OR16-9 immunoglobulin heavy variable 3/OR16-9 28307 Z29606 GDB:9953408 1342874 IGHV4-28 immunoglobulin heavy variable 4-28 28400 X05714 GDB:9931732 1348229 IGHV4-30-1 immunoglobulin heavy variable 4-30-1 28399 L10098 GDB:9931734 1345933 IGHV4-30-2 immunoglobulin heavy variable 4-30-2 8454861 28398 L10089 GDB:9953352 1350942 IGHV4-30-4 immunoglobulin heavy variable 4-30-4 28397 Z14238 GDB:9953354 1344694 IGHV4-31 immunoglobulin heavy variable 4-31 28396 L10098 GDB:9931737 1352297 IGHV4-34 immunoglobulin heavy variable 4-34 28395 X92278 GDB:9931738 1352456 IGHV4-39 immunoglobulin heavy variable 4-39 28394 L10094 GDB:9931739 1349744 IGHV4-4 immunoglobulin heavy variable 4-4 28401 X62112 GDB:9931731 1351387 IGHV4-55 immunoglobulin heavy variable 4-55 8490662 28393 NG_001019,AB019437,AB019438,M99685 GDB:9931740 4-55P|IGHV455 pseudo 1348956 IGHV4-59 immunoglobulin heavy variable 4-59 28392 L10088 GDB:9931741 1352591 IGHV4-61 immunoglobulin heavy variable 4-61 28391 M29811 GDB:9931742 1346822 IGHV4-80 immunoglobulin heavy variable 4-80 9841928 28390 NG_001019,AB019437 GDB:9931743 4-80P|IGHV480 pseudo 1350807 IGHV4-B immunoglobulin heavy variable 4-B (provisional) 28389 Z12367 GDB:9931744 1343362 IGHV4OR15-8 immunoglobulin heavy variable 4/OR15-8 28317 Z29598 GDB:9953400 1344364 IGHV5-51 immunoglobulin heavy variable 5-51 28388 M99686 GDB:9931745 1344683 IGHV5-78 immunoglobulin heavy variable 5-78 3396540 28387 NG_001019,AB019437,X92213 GDB:9931746 5-78P|IGHV578 pseudo 1349679 IGHV5-A immunoglobulin heavy variable 5-A (provisional) 28386 X92227 GDB:9931747 1352160 IGHV6-1 immunoglobulin heavy variable 6-1 28385 X92224 GDB:9931748 1344982 IGHV7-27 immunoglobulin heavy variable 7-27 8490662 28383 NG_001019,AB019439,M99643 GDB:9931750 7-27P|IGHV727 pseudo 1349724 IGHV7-34-1 immunoglobulin heavy variable 7-34-1 9841928 28382 NG_001019,AB019439 GDB:9931751 7-34.1P|IGHV7341 pseudo 1345574 IGHV7-4-1 immunoglobulin heavy variable 7-4-1 57289 L10057 GDB:9931749 1351214 IGHV7-40 immunoglobulin heavy variable 7-40 8490662 28381 NG_001019,AB019439,M99644 GDB:9953358 7-40P|IGHV740 pseudo 1347539 IGHV7-56 immunoglobulin heavy variable 7-56 3097326 28380 NG_001019,AB019437,AB019438,M29810 GDB:9931752 7-56P|IGHV756 pseudo 1351699 IGHV7-81 immunoglobulin heavy variable 7-81 28378 Z27509 GDB:9931754 1346861 IGHV@ immunoglobulin heavy variable group 1580863 1649888,3141924 3509 P01764 GDB:128528 1350344 IGHVII-1-1 immunoglobulin heavy variable (II)-1-1 9841928 28377 NG_001019,AB019441 GDB:9931755 4-01.1P|IGHVII11 pseudo 1353411 IGHVII-15-1 immunoglobulin heavy variable (II)-15-1 9841928 28376 NG_001019,AB019440 GDB:9931756 4-15.1P|IGHVII151 pseudo 1352159 IGHVII-20-1 immunoglobulin heavy variable (II)-20-1 9841928 28375 NG_001019,AB019440 GDB:9931757 4-20.1P|IGHVII201 pseudo 1352214 IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 9841928 28374 NG_001019,AB019439 GDB:9931758 4-22.1P|IGHVII221 pseudo 1343081 IGHVII-26-2 immunoglobulin heavy variable (II)-26-2 9841928 28373 NG_001019,AB019439 GDB:9933358 4-26.2P|IGHVII262 pseudo 1345337 IGHVII-28-1 immunoglobulin heavy variable (II)-28-1 9841928 28372 NG_001019,AB019439 GDB:9931759 4-28.1P|IGHVII281 pseudo 1343403 IGHVII-30-1 immunoglobulin heavy variable (II)-30-1 9841928 28371 NG_001019,AB019439 GDB:9931760 4-30.1P|IGHVII301 pseudo 1352213 IGHVII-31-1 immunoglobulin heavy variable (II)-31-1 9841928 28370 NG_001019,AB019439 GDB:9931761 4-31.1P|IGHVII311 pseudo 1354053 IGHVII-33-1 immunoglobulin heavy variable (II)-33-1 9841928 28369 NG_001019,AB019439 GDB:9931762 4-33.1P|IGHVII331 pseudo 1350523 IGHVII-40-1 immunoglobulin heavy variable (II)-40-1 9841928 28368 NG_001019,AB019438 GDB:9953360 4-40.1P|IGHVII401 pseudo 1350298 IGHVII-43-1 immunoglobulin heavy variable (II)-43-1 9841928 28367 NG_001019,AB019438 GDB:9953362 4-43.1P|IGHVII431 pseudo 1353840 IGHVII-44-2 immunoglobulin heavy variable (II)-44-2 9841928 28366 NG_001019,AB019438 GDB:9931763 4-44.2P|IGHVII442 pseudo 1347468 IGHVII-46-1 immunoglobulin heavy variable (II)-46-1 9841928 28365 NG_001019,AB019438 GDB:9931764 4-46.1P|IGHVII461 pseudo 1352185 IGHVII-49-1 immunoglobulin heavy variable (II)-49-1 9841928 28364 NG_001019,AB019438 GDB:9931765 4-49.1P|IGHVII491 pseudo 1343001 IGHVII-51-2 immunoglobulin heavy variable (II)-51-2 9841928 28363 NG_001019,AB019438 GDB:9931766 4-51.2P|IGHVII512 pseudo 1352222 IGHVII-53-1 immunoglobulin heavy variable (II)-53-1 9841928 28362 NG_001019,AB019438 GDB:9931767 4-53.1P|IGHVII531 pseudo 1353730 IGHVII-60-1 immunoglobulin heavy variable (II)-60-1 9841928 28361 NG_001019,AB019437 GDB:9931768 4-60.1P|IGHVII601 pseudo 1350113 IGHVII-62-1 immunoglobulin heavy variable (II)-62-1 9841928 28360 NG_001019,AB019437 GDB:9931769 4-62.1P|IGHVII621 pseudo 1353897 IGHVII-65-1 immunoglobulin heavy variable (II)-65-1 9841928 28359 NG_001019,AB019437 GDB:9931770 4-65.1P|IGHVII651 pseudo 1349091 IGHVII-67-1 immunoglobulin heavy variable (II)-67-1 9841928 28358 NG_001019,AB019437 GDB:9953364 4-67.1P|IGHVII671 pseudo 1342623 IGHVII-74-1 immunoglobulin heavy variable (II)-74-1 9841928 28357 NG_001019,AB019437 GDB:9931771 4-74.1P|IGHVII741 pseudo 1346536 IGHVII-78-1 immunoglobulin heavy variable (II)-78-1 9841928 28356 NG_001019,AB019437 GDB:9931772 4-78.1P|IGHVII781 pseudo 1354316 IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 9841928 28352 NG_001019,AB019440 GDB:9931776 3-11.1P|IGHVIII111 pseudo 1343818 IGHVIII-13-1 immunoglobulin heavy variable (III)-13-1 9841928 28351 NG_001019,AB019440 GDB:9931777 3-13.1P|IGHVIII131 pseudo 1346164 IGHVIII-16-1 immunoglobulin heavy variable (III)-16-1 9841928 28350 NG_001019,AB019440 GDB:9931778 3-16.1P|IGHVIII161 pseudo 1351788 IGHVIII-2-1 immunoglobulin heavy variable (III)-2-1 9841928 28355 NG_001019,AB019441 GDB:9931773 3-02.1P|IGHVIII21 pseudo 1349609 IGHVIII-22-2 immunoglobulin heavy variable (III)-22-2 9841928 28349 NG_001019,AB019439 GDB:9931779 3-22.2P|IGHVIII222 pseudo 1348317 IGHVIII-25-1 immunoglobulin heavy variable (III)-25-1 9841928 28348 NG_001019,AB019439 GDB:9931780 3-25.1P|IGHVIII251 pseudo 1351840 IGHVIII-26-1 immunoglobulin heavy variable (III)-26-1 9841928 28347 NG_001019,AB019439 GDB:9953366 3-26.1P|IGHVIII261 pseudo 1353669 IGHVIII-38-1 immunoglobulin heavy variable (III)-38-1 9841928 28346 NG_001019,AB019439 GDB:9953368 3-38.1P|38-1|IGHVIII381 pseudo 1352642 IGHVIII-44 immunoglobulin heavy variable (III)-44 8490662 28345 NG_001019,AB019438,M99673 GDB:9953370 3-44P|IGHVIII44 pseudo 1351752 IGHVIII-47-1 immunoglobulin heavy variable (III)-47-1 9841928 28344 NG_001019,AB019438 GDB:9953372 3-47.1P|IGHVIII471 pseudo 1346545 IGHVIII-5-1 immunoglobulin heavy variable (III)-5-1 9841928 28354 NG_001019,AB019440 GDB:9931774 3-05.1P|IGHVIII51 pseudo 1343316 IGHVIII-5-2 immunoglobulin heavy variable (III)-5-2 9841928 28353 NG_001019,AB019440 GDB:9931775 3-05.2P|IGHVIII52 pseudo 1351684 IGHVIII-51-1 immunoglobulin heavy variable (III)-51-1 9841928 28343 NG_001019,AB019438 GDB:9931781 3-51.1P|IGHVIII511 pseudo 1347559 IGHVIII-67-2 immunoglobulin heavy variable (III)-67-2 9841928 28342 NG_001019,AB019437 GDB:9931782 3-67.2P|IGHVIII672 pseudo 1350346 IGHVIII-67-3 immunoglobulin heavy variable (III)-67-3 9841928 28341 NG_001019,AB019437 GDB:9931783 3-67.3P|IGHV(III)-6|IGHVIII673 pseudo 1353158 IGHVIII-67-4 immunoglobulin heavy variable (III)-67-4 9841928 28340 NG_001019,AB019437 GDB:9931785 3-67.4P|IGHVIII674 pseudo 1342992 IGHVIII-76-1 immunoglobulin heavy variable (III)-76-1 9841928 28339 NG_001019,AB019437 GDB:9931786 3-76.1P|IGHVIII761 pseudo 1348621 IGHVIII-82 immunoglobulin heavy variable (III)-82 9841928 28338 NG_001019,AB019437 GDB:9931788 3-82P|IGHVIII82 pseudo 1349016 IGHVIV-44-1 immunoglobulin heavy variable (IV)-44-1 9841928 28337 NG_001019,AB019438 GDB:9953374 (IV)-44|4-44.1P|IGHVIV441 pseudo 1351217 IGHVOR15@ immunoglobulin heavy variable orphans on chromosome 15 7829065 3510 GDB:377735 1342980 IGHVOR16@ immunoglobulin heavy variable orphans on chromosome 16 7829065,7959766 3511 GDB:377743 1320892 IGJ immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 1580863 2984306,14718574,1292512,407930,115892,16740002,16335952,15084671,12477932,8683109,8666793,8253928,8196286,8168154,7664491,6774844,6417260,3146624,3016707,2415140,2120591,2113434,1472500 3512 NM_144646,AC009570,CH471057,M12759,BC038982,DQ884395 NP_653247,EAX05626,AAA58902,AAH38982,ABI63362,P01591 Hs.700610 GDB:120087 IGCJ|JCH protein-coding 1353698 IGJP1 immunoglobulin J polypeptide pseudogene 1 7916122 3513 S74134 GDB:390800 pseudo 1342699 IGK@ immunoglobulin kappa locus 17546032,16508097,15356136,12615002,12552516,12100030 50802 NG_000834,NG_000833,AC009958,AC073416,AC096579,AC096767,AC110080,AC113612,AC116654 GDB:9991242 IGK protein-coding 1345887 IGKC immunoglobulin kappa constant 1580863 10354514 3514 P01834 J00241 GDB:120088 1353657 IGKDEL immunoglobulin kappa deleting element or like 3086844 3515 X03957 GDB:120523 1353506 IGKJ1 immunoglobulin kappa joining 1 28950 J00242 GDB:9953169 1344808 IGKJ2 immunoglobulin kappa joining 2 28949 J00242 GDB:9953424 1343953 IGKJ3 immunoglobulin kappa joining 3 28948 J00242 GDB:9953426 1350357 IGKJ4 immunoglobulin kappa joining 4 28947 J00242 GDB:9953428 1349186 IGKJ5 immunoglobulin kappa joining 5 28946 J00242 GDB:9953430 1351180 IGKJ@ immunoglobulin kappa joining group 7842 GDB:9955668 1346316 IGKV1-12 immunoglobulin kappa variable 1-12 28940 V01577 GDB:9953440 1348867 IGKV1-13 immunoglobulin kappa variable 1-13 28939 Z00010 GDB:9953442 1350693 IGKV1-16 immunoglobulin kappa variable 1-16 28938 J00248 GDB:9953444 1353950 IGKV1-17 immunoglobulin kappa variable 1-17 28937 X72808 GDB:9953446 1606309 IGKV1-22 immunoglobulin kappa variable 1-22 8011175 28936 NG_000834,AC110080,AP001222,AP001243 GDB:9953448 A25|IGKV122 pseudo 1348888 IGKV1-27 immunoglobulin kappa variable 1-27 28935 X63398 GDB:9953450 1606310 IGKV1-32 immunoglobulin kappa variable 1-32 8011175 28934 NG_000834,AC110080,AP001219,AP001226 GDB:9953452 A15|A15a|IGKV132 pseudo 1348598 IGKV1-33 immunoglobulin kappa variable 1-33 28933 M64856 GDB:9953454 1353789 IGKV1-35 immunoglobulin kappa variable 1-35 8011175 28932 NG_000834,AC110080,AP001217,X71890 GDB:9953456 IGKV135|O16 pseudo 1347935 IGKV1-37 immunoglobulin kappa variable 1-37 28931 X59316 GDB:9953458 1353503 IGKV1-39 immunoglobulin kappa variable 1-39 28930 X59315 GDB:9953460 1346135 IGKV1-5 immunoglobulin kappa variable 1-5 1580863 28299 P01602 Z00001 GDB:9953432 1353729 IGKV1-6 immunoglobulin kappa variable 1-6 28943 M64858 GDB:9953434 1348780 IGKV1-8 immunoglobulin kappa variable 1-8 28942 Z00014 GDB:9953436 1346056 IGKV1-9 immunoglobulin kappa variable 1-9 28941 Z00013 GDB:9953438 1346046 IGKV1D-12 immunoglobulin kappa variable 1D-12 28903 X17263 GDB:9953514 1348481 IGKV1D-13 immunoglobulin kappa variable 1D-13 28902 X17262 GDB:9953516 1345259 IGKV1D-16 immunoglobulin kappa variable 1D-16 28901 K01323 GDB:9953518 1347822 IGKV1D-17 immunoglobulin kappa variable 1D-17 28900 X63392 GDB:9953520 1606559 IGKV1D-22 immunoglobulin kappa variable 1D-22 11298326,8011175 28899 NG_000833,AC009958,AP001232 GDB:9953522 A9|IGKV1D22 pseudo 1343491 IGKV1D-27 immunoglobulin kappa variable 1D-27 11298326,6087279 28898 NG_000833,AC009958,AP001216,AP001224,Z00004 GDB:9953524 A4|A4a|IGKV1D27 pseudo 1606560 IGKV1D-32 immunoglobulin kappa variable 1D-32 11298326 28897 NG_000833,AC009958,AP001220,AP001235 GDB:9953526 IGKV1D32|O9 pseudo 1346586 IGKV1D-33 immunoglobulin kappa variable 1D-33 28896 M64855 GDB:9953528 1351934 IGKV1D-35 immunoglobulin kappa variable 1D-35 11298326 28895 NG_000833,AC009958,AP001220,X71894 GDB:9953530 IGKV1D35|O6 pseudo 1350906 IGKV1D-37 immunoglobulin kappa variable 1D-37 28894 X71893 GDB:9953532 1346160 IGKV1D-39 immunoglobulin kappa variable 1D-39 28893 X59312 GDB:9953534 1343408 IGKV1D-42 immunoglobulin kappa variable 1D-42 28892 X72816 GDB:9953536 1352839 IGKV1D-43 immunoglobulin kappa variable 1D-43 28891 X72817 GDB:9953538 1352280 IGKV1D-8 immunoglobulin kappa variable 1D-8 28904 Z00008 GDB:9953512 1602135 IGKV1OR-1 immunoglobulin kappa variable 1/OR-1 2853098 3531 M20813 GDB:118818 IGKV1/OR-1|IGKV1OR1|IGKVPZ1 pseudo 1353188 IGKV1OR-2 immunoglobulin kappa variable 1/OR-2 1596359 3532 X64640 GDB:118819 IGKV1/OR-2|IGKV1OR2|IGKVPZ2 pseudo 1352379 IGKV1OR-3 immunoglobulin kappa variable 1/OR-3 1596359 644731 XM_927829,BX284632,X64641 XP_932922 GDB:118820 IGKV1/OR-3|IGKV1OR3|IGKVPZ3 pseudo 1347385 IGKV1OR-4 immunoglobulin kappa variable 1/OR-4 1596359 3534 X64642 GDB:118821 IGKV1/OR-4|IGKV1OR4|IGKVPZ4 pseudo 1345957 IGKV1OR1-1 immunoglobulin kappa variable 1/OR1-1 2853099 3525 M20809 AAA36094 GDB:120089 IGKV1/OR1-1|IGKV1OR11|IGKVP1 pseudo 1350476 IGKV1OR15-118 immunoglobulin kappa variable 1/OR15-118 2853099 3526 M20812 AAA36095 GDB:120090 IGKV1OR118|IGKVP2 pseudo 1342629 IGKV1OR2-0 immunoglobulin kappa variable 1/OR2-0 28867 Y08392 GDB:9953586 1342671 IGKV1OR2-108 immunoglobulin kappa variable 1/OR2-108 28862 X51887 GDB:9953596 1344205 IGKV1OR2-11 immunoglobulin kappa variable 1/OR2-11 2111145 28863 X51885 GDB:9953594 IGKV1OR211 pseudo 1354448 IGKV1OR2-3 immunoglobulin kappa variable 1/OR2-3 3037085 28866 X05102 GDB:9953588 IGKV1/OR2-3|IGKV1OR23 pseudo 1352698 IGKV1OR2-6 immunoglobulin kappa variable 1/OR2-6 3037085 28865 X05103 GDB:9953590 IGKV1/OR2-6|IGKV1OR26 pseudo 1353773 IGKV1OR2-9 immunoglobulin kappa variable 1/OR2-9 2111145 28864 X51879 GDB:9953592 IGKV1/OR2-9|IGKV1OR29 pseudo 1346651 IGKV1OR22-1 immunoglobulin kappa variable 1/OR22-1 3083265 3530 Z00040 GDB:120093 IGKV1OR221|IGKVP5 pseudo 1348301 IGKV1OR22-5 immunoglobulin kappa variable 1/OR22-5 6087279 28850 Z00003 GDB:9953622 1353891 IGKV2-10 immunoglobulin kappa variable 2-10 6086934 28928 NG_000834,AC096767,AP001209,AP001231,Z00012 GDB:9953464 IGKV210|L7 pseudo 1353601 IGKV2-14 immunoglobulin kappa variable 2-14 8223863 28927 NG_000834,AC116654,AP001228,X72810 GDB:9953466 IGKV214|L3 pseudo 1351012 IGKV2-18 immunoglobulin kappa variable 2-18 1551402 28926 NG_000834,AC116654,AP001243,X63400 GDB:9953468 A29|IGKV218 pseudo 1349374 IGKV2-19 immunoglobulin kappa variable 2-19 3351922 28925 NG_000834,AC116654,AP001243,X12692 GDB:9953470 A28|IGKV219 pseudo 1606311 IGKV2-23 immunoglobulin kappa variable 2-23 8011175 28924 NG_000834,AC110080,AP001222,AP001243 GDB:9953472 A24|IGKV223 pseudo 1348441 IGKV2-24 immunoglobulin kappa variable 2-24 28923 X12684 GDB:9953474 1342503 IGKV2-26 immunoglobulin kappa variable 2-26 8011175 28922 NG_000834,AC110080,AP001222,AP001238,X71884 GDB:9953476 A21|IGKV226 pseudo 1349377 IGKV2-28 immunoglobulin kappa variable 2-28 28921 X63397 GDB:9953478 1354436 IGKV2-29 immunoglobulin kappa variable 2-29 1551402 28920 NG_000834,AC110080,AP001226,X63396 GDB:9953480 A18|A18b|IGKV229 pseudo 1349568 IGKV2-30 immunoglobulin kappa variable 2-30 28919 X63403 GDB:9953482 1347129 IGKV2-36 immunoglobulin kappa variable 2-36 8011175 28918 NG_000834,AC110080,AP001217,X71889 GDB:9953484 IGKV236|O15 pseudo 1349614 IGKV2-38 immunoglobulin kappa variable 2-38 8011175 28917 NG_000834,AC110080,AP001239,X71888 GDB:9953486 IGKV238|O13 pseudo 1352208 IGKV2-4 immunoglobulin kappa variable 2-4 8223863 28929 NG_000834,AC096767,AP001240,X72814 CAA51333 GDB:9953462 IGKV24|L13 pseudo 1347989 IGKV2-40 immunoglobulin kappa variable 2-40 28916 X59314 GDB:9953488 1346744 IGKV2D-10 immunoglobulin kappa variable 2D-10 11298326,8223863,3927006 28890 NG_000833,AC073416,AP001210,AP001223,X17265 GDB:9953540 IGKV2D10|L21 pseudo 1345468 IGKV2D-14 immunoglobulin kappa variable 2D-14 11298326,8223863 28889 NG_000833,AC073416,AP001213,X72811 GDB:9953542 IGKV2D14|L17 pseudo 1353283 IGKV2D-18 immunoglobulin kappa variable 2D-18 11298326,1551402 28888 NG_000833,AC009958,AP001212,AP001236,X63395 GDB:9953544 A13|IGKV2D18 pseudo 1353585 IGKV2D-19 immunoglobulin kappa variable 2D-19 11298326,8011175 28887 NG_000833,AC009958,AP001212,AP001236,X71882 GDB:9953546 A12|IGKV2D19 pseudo 1606561 IGKV2D-23 immunoglobulin kappa variable 2D-23 11298326,8011175 28886 NG_000833,AC009958,AP001232 GDB:9953548 A8|IGKV2D23 pseudo 1354043 IGKV2D-24 immunoglobulin kappa variable 2D-24 28885 X63401 GDB:9953550 1342921 IGKV2D-26 immunoglobulin kappa variable 2D-26 11298326,3351922 28884 NG_000833,AC009958,AP001216,X12689 GDB:9953552 A5|IGKV2D26 pseudo 1349736 IGKV2D-28 immunoglobulin kappa variable 2D-28 28883 X12691 GDB:9953554 1353346 IGKV2D-29 immunoglobulin kappa variable 2D-29 28882 M31952 GDB:9953556 1349672 IGKV2D-30 immunoglobulin kappa variable 2D-30 28881 X63402 GDB:9953558 1606562 IGKV2D-36 immunoglobulin kappa variable 2D-36 11298326,8011175 28880 NG_000833,AC009958,AP001221 GDB:9953560 IGKV2D36|O5 pseudo 1353082 IGKV2D-38 immunoglobulin kappa variable 2D-38 11298326,8011175 28879 NG_000833,AP001221,X71892 GDB:9953562 IGKV2D38|O3 pseudo 1348984 IGKV2D-40 immunoglobulin kappa variable 2D-40 28878 X59311 GDB:9953564 1345030 IGKV2OR2-1 immunoglobulin kappa variable 2/OR2-1 8011175,3037085 28861 X05101,X76074 GDB:9953600 IGKV2/OR2-1|IGKV2OR2-1A|IGKV2OR21|IGKV2OR21A pseudo 1348675 IGKV2OR2-10 immunoglobulin kappa variable 2/OR2-10 2111145 28855 X51886 GDB:9953612 IGKV2OR210 pseudo 1343795 IGKV2OR2-2 immunoglobulin kappa variable 2/OR2-2 2111145 28859 AC018892,X51884 GDB:9953604 IGKV2/OR2-2|IGKV2OR22 pseudo 1350358 IGKV2OR2-4 immunoglobulin kappa variable 2/OR2-4 2111145 28858 X51883 GDB:9953606 IGKV2/OR2-4|IGKV2OR24 pseudo 1353656 IGKV2OR2-7 immunoglobulin kappa variable 2/OR2-7 2111145 28857 X51881 GDB:9953608 IGKV2/OR2-7|IGKV2OR27 pseudo 1351765 IGKV2OR2-8 immunoglobulin kappa variable 2/OR2-8 2111145 28856 X51880 GDB:9953610 IGKV2/OR2-8|IGKV2OR28 pseudo 1345359 IGKV2OR22-3 immunoglobulin kappa variable 2/OR22-3 3083265 3529 Z00041 GDB:120092 IGKV2OR223|IGKVP4 pseudo 1351147 IGKV2OR22-4 immunoglobulin kappa variable 2/OR22-4 2853099 28847 M20707 AAA36093 GDB:9953628 IGKV2OR224|IGKVP6 pseudo 1353908 IGKV3-11 immunoglobulin kappa variable 3-11 28914 X01668 GDB:9953492 1349622 IGKV3-15 immunoglobulin kappa variable 3-15 28913 M23090 GDB:9953494 1345528 IGKV3-20 immunoglobulin kappa variable 3-20 28912 X12686 GDB:9953496 1343856 IGKV3-25 immunoglobulin kappa variable 3-25 2825139 28911 NG_000834,AC110080,AP001222,AP001238,X06583 GDB:9953498 A22|IGKV325 pseudo 1606312 IGKV3-31 immunoglobulin kappa variable 3-31 8011175 28910 NG_000834,AC110080,AP001219,AP001226 GDB:9953500 A16|A16a|IGKV331 pseudo 1348791 IGKV3-34 immunoglobulin kappa variable 3-34 8011175 28909 X71891,NG_000834,AC110080,AP001217 GDB:9953502 IGKV334|O17 pseudo 1353867 IGKV3-7 immunoglobulin kappa variable 3-7 28915 X02725 GDB:9953490 1348489 IGKV3D-11 immunoglobulin kappa variable 3D-11 28876 X17264 GDB:9953568 1349711 IGKV3D-15 immunoglobulin kappa variable 3D-15 28875 X72815 GDB:9953570 1343767 IGKV3D-20 immunoglobulin kappa variable 3D-20 28874 X12687 GDB:9953572 1346075 IGKV3D-25 immunoglobulin kappa variable 3D-25 11298326,8011175 28873 NG_000833,AC009958,AP001216,X71886 GDB:9953574 A6|IGKV3D25 pseudo 1606563 IGKV3D-31 immunoglobulin kappa variable 3D-31 11298326 28872 NG_000833,AC009958,AP001220,AP001235 GDB:9953576 IGKV3D31|O10 pseudo 1348180 IGKV3D-34 immunoglobulin kappa variable 3D-34 11298326 28871 NG_000833,AC009958,AP001220,X71895 GDB:9953578 IGKV3D34|O7 immunoglobulin kappa variable 1d-34 pseudo 1351936 IGKV3D-7 immunoglobulin kappa variable 3D-7 28877 X72820 GDB:9953566 1351330 IGKV3OR2-268 immunoglobulin kappa variable 3/OR2-268 7959772 3523 X74459 GDB:347953 1348328 IGKV3OR2-5 immunoglobulin kappa variable 3/OR2-5 2111145 28854 X51882 GDB:9953614 IGKV3/OR2-5|IGKV3OR25 pseudo 1348380 IGKV3OR22-2 immunoglobulin kappa variable 3/OR22-2 3083265 3527 Z00042 GDB:120091 IGKV3OR222|IGKVP3 pseudo 1346817 IGKV4-1 immunoglobulin kappa variable 4-1 1580863 28908 P06312 Z00023 GDB:9953504 1354155 IGKV5-2 immunoglobulin kappa variable 5-2 28907 X02485 GDB:9953506 1344381 IGKV6-21 immunoglobulin kappa variable 6-21 28906 X63399 GDB:9953508 1353245 IGKV6D-21 immunoglobulin kappa variable 6D-21 28870 X12683 GDB:9953580 1343087 IGKV6D-41 immunoglobulin kappa variable 6D-41 28869 X12688 GDB:9953582 1343063 IGKV7-3 immunoglobulin kappa variable 7-3 3137458 28905 NG_000834,AC096767,AP001211,AP001240,X12682 CAA31193 GDB:9953510 B1|IGKV73 pseudo 1348502 IGKV@ immunoglobulin kappa variable group 3519 GDB:119341 1347699 IGKVOR2@ Immunoglobulin kappa variable orphans on chromosome 2 2114012,2111145 3524 GDB:128324 1347208 IGL@ immunoglobulin lambda locus Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. There are two classes of light chains, kappa and lambda. This region represents the germline organization of the lambda light chain locus. The locus includes V (variable), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V segments and three C segments are known to be incapable of encoding a protein and are considered pseudogenes. The locus also includes several non-immunoglobulin genes, many of which are pseudogenes or are predicted by automated computational analysis or homology to other species. 814163,1249422,11955599,18005388,17675156,16508097,12749909,12477932,11872955,9074928,8951372,7655473,6802926,6795508,6783958,3923432,3133312,2115572,1904362 3535 D88271,AL713800,BC012159,BC028090,BC030983,BC032452,BC033102,BC070353,BC071725,BC071804,BC072392,BC073762,BC073769,BC073770,BC073786,BC073787,BC089414,BC093098,X57809,D88270,NG_000002,D86989,D86991,D86993,D86994,D86996,D86998,D86999,D87000,D87002,D87003,D87004,D87006,D87007,D87009,D87010,D87011,D87013,D87014,D87015,D87016,D87017,D87018,D87020,D87021,D87022,D87023,D87024,D88269 CAD28551,AAH12159,AAH28090,AAH30983,AAH32452,AAH33102,AAH70353,AAH71725,AAH71804,AAH72392,AAH73762,AAH73769,AAH73770,AAH73786,AAH73787,AAH89414,AAH93098,CAA40946,Q567P1,Q5FWF9,Q5NV63,Q6GMW3,Q6GMW4,Q6GMX3,Q6GMX4,Q6IN99,Q6IPQ0,Q6NS95,Q6PIK1,Q6PIQ7,Q6PJA3,Q6PJR7,Q8N355,Q8N5F4,Q8TCJ5,ABM83568,ABM86805,ABM87078 Hs.449585,Hs.707538 GDB:128432 IGL|MGC88804 protein-coding 1349723 IGLC1 immunoglobulin lambda constant 1 (Mcg marker) 1580863 3537 P01842 J00252 GDB:120690 1352037 IGLC2 immunoglobulin lambda constant 2 (Kern-Oz- marker) 1580863 3538 P01842 J00253 GDB:120691 1353213 IGLC3 immunoglobulin lambda constant 3 (Kern-Oz+ marker) 1580863 3539 P01842 J00254 GDB:120692 1346758 IGLC4 immunoglobulin lambda constant 4 9074928,6273747,3122211 3540 NG_000002,D87023,J03009 GDB:120693 IGLC pseudo 1347985 IGLC5 immunoglobulin lambda constant 5 6273747,3122211 3541 NG_000002,D87017,J03010 GDB:120694 IGLC pseudo 1350362 IGLC6 immunoglobulin lambda constant 6 (Kern+Oz- marker) 3542 J03011 GDB:120524 1351535 IGLC7 immunoglobulin lambda constant 7 28834 X51755 GDB:9953636 1352227 IGLC@ immunoglobulin lambda constant group 3536 GDB:9955887 1350177 IGLCOR22-1 immunoglobulin lambda constant/OR22-1 84096 AL008723 GDB:9991233 1353616 IGLCOR22-2 immunoglobulin lambda constant/OR22-2 84086 AL021937 GDB:9991234 1344872 IGLJ1 immunoglobulin lambda joining 1 28833 X04457 GDB:9953638 1346085 IGLJ2 immunoglobulin lambda joining 2 28832 M15641 GDB:9953640 1348665 IGLJ3 immunoglobulin lambda joining 3 28831 M15642 GDB:9953642 1352982 IGLJ4 immunoglobulin lambda joining 4 28830 X51755 GDB:9953644 1343526 IGLJ5 immunoglobulin lambda joining 5 28829 X51755 GDB:9953646 1350061 IGLJ6 immunoglobulin lambda joining 6 28828 M18338 GDB:9953648 1354222 IGLJ7 immunoglobulin lambda joining 7 28827 X51755 GDB:9953650 1348216 IGLJ@ immunoglobulin lambda joining group 8217 GDB:9954615 1348633 IGLJCOR18 immunoglobulin lambda joining-constant/OR18 6801526 204777 NG_004787,AP001025,J00255 IGLJ-COR18 pseudo 1344157 IGLL1 immunoglobulin lambda-like polypeptide 1 The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. 1580863 3139558,3003227,2511029,2128466,2117639,1903358,1760403,1703205,16189514,9145108,8881769,2501791,16289162,15489334,12477932,11976493,11564802,10887125,10799888,10421777,9419212,9074928,9029104,8406611,7961773 3543 AP000345,CH471095,M34513,X03528,X03530,BC012293,BC030239,CR597509,CR619006,M27749,NM_152855,NM_020070 EAW59583,EAW59584,AAA36096,CAA27229,CAA27231,AAH12293,AAH30239,AAA36100,P15814,Q0P681,ABM84504,ABM85566,NP_690594,NP_064455 Hs.348935 GDB:127955 14.1|CD179b|IGL1|IGL5|IGLJ14.1|IGLL|IGO|IGVPB|VPREB2 protein-coding 1349654 IGLL2 immunoglobulin lambda-like polypeptide 2 8406611,3003227 3544 L02326 AAA16174 GDB:137325 16.2|FLAMBDA1 protein-coding 1606196 IGLL3 immunoglobulin lambda-like polypeptide 3 8406611,3003227,1703205 91353 NM_001013618,AL022324,CH471095,M34514,M34516,X03529 NP_001013640,EAW59689,AAA36097,CAA27230,Q5JZ85 Hs.567636 GDB:137326 16.1 protein-coding 1352497 IGLL3 immunoglobulin lambda-like polypeptide 3 8406611 3545 X03529 GDB:137326 1346144 IGLP1 immune response to synthetic polypeptides 1 7925 GDB:9956144 1349431 IGLP2 immune response to synthetic polypeptides 2 7926 GDB:9956146 1344721 IGLV1-36 immunoglobulin lambda variable 1-36 28826 Z73653 GDB:9953652 1348756 IGLV1-40 immunoglobulin lambda variable 1-40 28825 M94116 GDB:9953654 1346087 IGLV1-41 immunoglobulin lambda variable 1-41 9074928,1495496 28824 NG_000002,D87010,M94118 GDB:9953656 IGLV141|V1-14P pseudo 1350159 IGLV1-44 immunoglobulin lambda variable 1-44 28823 Z73654 GDB:9953658 1351121 IGLV1-47 immunoglobulin lambda variable 1-47 28822 Z73663 GDB:9953660 1343227 IGLV1-50 immunoglobulin lambda variable 1-50 28821 M94112 GDB:9953662 1351842 IGLV1-51 immunoglobulin lambda variable 1-51 28820 Z73661 GDB:9953664 1349090 IGLV1-62 immunoglobulin lambda variable 1-62 9074928 28819 NG_000002,D87022 GDB:9953666 IGLV162|V1-23P pseudo 1344651 IGLV10-54 immunoglobulin lambda variable 10-54 28772 Z73676 GDB:9953763 1353309 IGLV10-67 immunoglobulin lambda variable 10-67 9074928,8951372 28771 NG_000002,D86993,Z73651 GDB:9953765 IGLV1067|V1-25P pseudo 1348002 IGLV11-55 immunoglobulin lambda variable 11-55 28770 D86996 GDB:9953767 1345280 IGLV2-11 immunoglobulin lambda variable 2-11 28816 Z73657 GDB:9953674 1352679 IGLV2-14 immunoglobulin lambda variable 2-14 28815 Z73664 GDB:9953676 1351160 IGLV2-18 immunoglobulin lambda variable 2-18 28814 Z73642 GDB:9953679 1345620 IGLV2-23 immunoglobulin lambda variable 2-23 28813 X14616 GDB:9953681 1348337 IGLV2-28 immunoglobulin lambda variable 2-28 9074928,8951372 28812 NG_000002,D86994,X97466 GDB:9953683 IGLV228|V1-8P pseudo 1345246 IGLV2-33 immunoglobulin lambda variable 2-33 28811 Z73643 GDB:9953685 1343548 IGLV2-34 immunoglobulin lambda variable 2-34 9074928 28810 D87013,NG_000002 GDB:9953687 IGLV234|V1-10P pseudo 1342960 IGLV2-5 immunoglobulin lambda variable 2-5 9074928,8951372 28818 NG_000002,D87024,Z73641 GDB:9953668 IGLV25|V1-1P pseudo 1350535 IGLV2-8 immunoglobulin lambda variable 2-8 28817 X97462 GDB:9953670 1354157 IGLV3-1 immunoglobulin lambda variable 3-1 28809 X57826 GDB:9953689 1347728 IGLV3-10 immunoglobulin lambda variable 3-10 28803 X97464 GDB:9953701 1353164 IGLV3-12 immunoglobulin lambda variable 3-12 28802 Z73658 GDB:9953703 1343146 IGLV3-13 immunoglobulin lambda variable 3-13 9074928,8951372 28801 NG_000002,D86998,D87015,X97463 GDB:9953705 IGLV313|V2-9P pseudo 1348035 IGLV3-15 immunoglobulin lambda variable 3-15 9074928 28800 NG_000002,D87015 GDB:9953707 IGLV315|V2-10P pseudo 1351814 IGLV3-16 immunoglobulin lambda variable 3-16 28799 X97471 GDB:9953709 1343091 IGLV3-17 immunoglobulin lambda variable 3-17 9074928,8951372 28798 NG_000002,D87015,X97472 GDB:9953711 IGLV317|V2-12P pseudo 1348212 IGLV3-19 immunoglobulin lambda variable 3-19 28797 X56178 GDB:9953713 1350085 IGLV3-2 immunoglobulin lambda variable 3-2 9074928,8951372 28808 NG_000002,D87024,X97468 GDB:9953691 IGLV32|V2-2P pseudo 1353004 IGLV3-21 immunoglobulin lambda variable 3-21 28796 X71966 GDB:9953715 1344674 IGLV3-22 immunoglobulin lambda variable 3-22 28795 Z73666 GDB:9953717 1349653 IGLV3-24 immunoglobulin lambda variable 3-24 9074928,8028600 28794 NG_000002,D86994,X71968 GDB:9953719 IGLV324|V2-16P pseudo 1351612 IGLV3-25 immunoglobulin lambda variable 3-25 28793 X97474 GDB:9953721 1342666 IGLV3-26 immunoglobulin lambda variable 3-26 9074928,8951372 28792 NG_000002,D86994,X97467 GDB:9953723 IGLV326|V2-18P pseudo 1352617 IGLV3-27 immunoglobulin lambda variable 3-27 28791 D86994 GDB:9953725 1346104 IGLV3-29 immunoglobulin lambda variable 3-29 9074928,8951372 28790 NG_000002,D87002,Z73644 GDB:9953727 IGLV329 pseudo 1351461 IGLV3-30 immunoglobulin lambda variable 3-30 9074928,8951372 28789 NG_000002,D87014,Z73646 GDB:9953729 IGLV330|V2-21P pseudo 1346403 IGLV3-31 immunoglobulin lambda variable 3-31 9074928,8951372 28788 NG_000002,D87014,X97469 GDB:9953731 IGLV331|V2-22P pseudo 1344557 IGLV3-32 immunoglobulin lambda variable 3-32 28787 Z73645 GDB:9953733 1343976 IGLV3-4 immunoglobulin lambda variable 3-4 9074928 28807 NG_000002,D87024 GDB:9953693 IGLV34|V2-3P pseudo 1348922 IGLV3-6 immunoglobulin lambda variable 3-6 9074928,8951372 28806 NG_000002,D87024,X97465 GDB:9953695 IGLV36|V2-4P pseudo 1345637 IGLV3-7 immunoglobulin lambda variable 3-7 9074928,8951372 28805 NG_000002,D87024,X97470 GDB:9953697 IGLV37|V2-5P pseudo 1344709 IGLV3-9 immunoglobulin lambda variable 3-9 28804 X97473 GDB:9953699 1351470 IGLV4-3 immunoglobulin lambda variable 4-3 28786 X57828 GDB:9953735 1349096 IGLV4-60 immunoglobulin lambda variable 4-60 28785 Z73667 GDB:9953737 1349935 IGLV4-69 immunoglobulin lambda variable 4-69 28784 Z73648 GDB:9953739 1345795 IGLV5-37 immunoglobulin lambda variable 5-37 28783 Z73672 GDB:9953741 1344666 IGLV5-39 immunoglobulin lambda variable 5-39 28782 Z73668 GDB:9953743 1345111 IGLV5-45 immunoglobulin lambda variable 5-45 28781 Z73670 GDB:9953745 1343851 IGLV5-48 immunoglobulin lambda variable 5-48 28780 Z73649 GDB:9953747 1351515 IGLV5-52 immunoglobulin lambda variable 5-52 28779 Z73669 GDB:9953749 1345923 IGLV6-57 immunoglobulin lambda variable 6-57 28778 Z73673 GDB:9953751 1350740 IGLV7-35 immunoglobulin lambda variable 7-35 9074928,8951372 28777 NG_000002,Z73660 GDB:9953753 IGLV735|V3-1P pseudo 1346910 IGLV7-43 immunoglobulin lambda variable 7-43 28776 X14614 GDB:9953755 1344991 IGLV7-46 immunoglobulin lambda variable 7-46 28775 Z73674 GDB:9953757 1344347 IGLV8-61 immunoglobulin lambda variable 8-61 28774 Z73650 GDB:9953759 1350125 IGLV8OR8-1 immunoglobulin lambda variable 8/OR8-1 9174619 28756 Y08831 GDB:9953795 IGLV8/OR8-1|IGLV8OR81 pseudo 1352179 IGLV9-49 immunoglobulin lambda variable 9-49 28773 Z73675 GDB:9953761 1351415 IGLV@ immunoglobulin lambda variable group 3923432 3546 GDB:119342 1347357 IGLVI-20 immunoglobulin lambda variable (I)-20 9074928 28769 NG_000002,D87007 GDB:9953769 IGLV(I)-20|IGLVI20|V1-6P pseudo 1606798 IGLVI-38 immunoglobulin lambda variable (I)-38 9074928 28768 NG_000002,D87010 GDB:9953771 IGLV(I)-38|IGLVI38|V1-12P pseudo 1350879 IGLVI-42 immunoglobulin lambda variable (I)-42 9074928,2499871,1909789 28767 NG_000002,D86999,X14613 GDB:9953773 IGLV(I)-42|IGLVI42|V1-15P pseudo 1350053 IGLVI-56 immunoglobulin lambda variable (I)-56 9074928 28766 NG_000002,D86996 GDB:9953775 IGLV(I)-56|IGLVI56|V1-21P pseudo 1348293 IGLVI-63 immunoglobulin lambda variable (I)-63 9074928 28765 NG_000002,D87022 GDB:9953777 IGLV(I)-63|IGLVI63|V1-24P pseudo 1343173 IGLVI-68 immunoglobulin lambda variable (I)-68 9074928 28764 NG_000002,D86993 GDB:9953779 IGLV(I)-68|IGLVI68|V1-26P pseudo 1345137 IGLVI-70 immunoglobulin lambda variable (I)-70 9074928 28763 NG_000002,D86993 GDB:9953781 IGLV(I)-70|IGLVI70|V1-27P pseudo 1346812 IGLVIV-53 immunoglobulin lambda variable (IV)-53 9074928 28762 NG_000002,D86996 GDB:9953783 IGLV(IV)-53|IGLVIV53|V4-5P pseudo 1345396 IGLVIV-59 immunoglobulin lambda variable (IV)-59 9074928 28761 NG_000002,D87000 GDB:9953785 IGLV(IV)-59|IGLVIV59|V4-7P pseudo 1343273 IGLVIV-64 immunoglobulin lambda variable (IV)-64 9074928 28760 NG_000002,D87022 GDB:9953787 IGLV(IV)-64|IGLVIV64|V4-8P pseudo 1350516 IGLVIV-65 immunoglobulin lambda variable (IV)-65 9074928 28759 NG_000002,D87022 GDB:9953789 IGLV(IV)-65|IGLVIV65|V4-9P pseudo 1604768 IGLVIV-66-1 immunoglobulin lambda variable (IV)-66-1 9074928 84097 NG_000002 GDB:9991231 pseudo 1349537 IGLVIVOR22-1 immunoglobulin lambda variable (IV)/OR22-1 84088 AL008721 GDB:9991235 1353385 IGLVIVOR22-2 immunoglobulin lambda variable (IV)/OR22-2 84087 AL021937 GDB:9991236 1350373 IGLVV-58 immunoglobulin lambda variable (V)-58 9074928 28758 NG_000002,D87000 GDB:9953791 IGLV(V)-58|IGLVV58|V5-3P pseudo 1606799 IGLVV-66 immunoglobulin lambda variable (V)-66 9074928 28757 NG_000002 GDB:9953793 IGLV(V)-66|IGLVV66|V5-5P pseudo 1343450 IGLVVI-22-1 immunoglobulin lambda variable (VI)-22-1 84091 X71351 GDB:11499316 1604769 IGLVVI-25-1 immunoglobulin lambda variable (VI)-25-1 9074928 84090 NG_000002 GDB:11499332 lambdavg3 pseudo 1345116 IGLVVII-41-1 immunoglobulin lambda variable (VII)-41-1 2499871 84089 X99568,NG_000002 GDB:11499334 lambdavg1 pseudo 1353839 IGSF1 immunoglobulin superfamily, member 1 Members of the immunoglobulin (Ig) superfamily (see MIM 147100), which includes IGSF1, have a variety of functions, but all appear to play a role in cell recognition and the regulation of cell behavior.[supplied by OMIM] 1580863 11266516,16381901,15489336,11076863,9729118,9521868,9373149,9205841,8125298,12477932,12421765,11854097,11344214 3547 NM_001555,NM_205833,AL590806,CH471107,AB002362,AB058894,AF034198,AK057916,AK226008,AL137369,BC028312,BC063884,CR614008,Y10523 NP_001546,NP_991402,CAI41248,CAI41249,CAI41250,EAX11791,EAX11792,BAA20819,BAB40235,AAC52057,CAB70713,AAH63884,CAA71535,Q8N6C5,CAL37686,CAL37995,CAL38206,CAL38268 Hs.22111 GDB:9315110 IGCD1|IGDC1|INHBP|KIAA0364|MGC75490|PGSF2 protein-coding 1352652 IGSF10 immunoglobulin superfamily, member 10 737633,1580863 14702039,12477932 737633 285313 NM_178822,AC024886,CH471052,AK093069,AK098838,AK128160,AY273815,BC031063,BC045734 NP_849144,EAW78798,EAW78799,BAC04042,BAC05429,BAC87305,AAQ16156,AAH31063,AAH45734,Q6WRI0,Q6ZRK5 Hs.708245 CMF608|FLJ25972 protein-coding 1318715 IGSF11 immunoglobulin superfamily, member 11 IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM).[supplied by OMIM] 1580863 16108831,15795899,14702039,12975309,12851705,12477932,12207903 152404 NM_152538,NM_001015887,AC007023,AC012032,AC068984,AC083800,CH471052,CQ789642,AA292896,AB071618,AB079879,AK097667,AK122611,AK292387,AL834256,AY358141,BC034411,BI828564 NP_689751,NP_001015887,EAW79579,EAW79580,CAG24381,BAD90695,BAC07546,BAC05139,BAF85076,CAD38931,AAQ88508,AAH34411,Q5DX21 Hs.112873 BT-IgSF|CXADRL1|Igsf13|MGC35227|VSIG3 protein-coding 1322923 IGSF2 immunoglobulin superfamily, member 2 1580863 7722300,16344560,15737213,15342556,12477932,11504738,11093127,10692025,9647226,9389317,9233604,7722299 9398 NM_004258,AL445231,CH471122,AI791963,BC130327,BP300139,DA955029,Z33642 NP_004249,CAH71959,EAW56664,EAW56665,AAI30328,CAA83923,Q93033 Hs.654598 GDB:702141 CD101|V7 protein-coding 1602849 IGSF21 immunoglobin superfamily, member 21 16710414,16303743,16169070,15489334,14702039,12477932 84966 NM_032880,AL050342,AL356101,AL359738,AL365209,CH471134,CQ783449,AK075316,AK092618,AK123172,BC007618,CR593587,CR610302 NP_116269,CAH70255,CAH70256,EAW94848,CAF86651,BAC11542,AAH07618,Q5VY45,Q96ID5 Hs.212511 FLJ41177|MGC15730|RP11-121A23.1 protein-coding 1601807 IGSF22 immunoglobulin superfamily, member 22 16344560,14702039,12477932 283284 NM_173588,AC103974,AA255875,AK095113,BC115396,BC115397,DA338373 NP_775859,BAC04488,AAI15398,Q8N9C0 Hs.434152 FLJ37794 protein-coding 1317196 IGSF3 immunoglobulin superfamily, member 3 14702039,12477932,9790749,9455484 3321 NM_001007237,NM_001542,AL355794,AL356748,CH471122,AB007935,AF031174,AK097809,BC110651,BC130279,BU189125 NP_001007238,NP_001533,CAI22421,CAI22422,EAW56657,EAW56658,EAW56659,BAA32311,AAC72013,BAC05175,AAI10652,AAI30280,O75054 Hs.171057 GDB:9864368 EWI-3|MGC117164|V8 protein-coding 1352549 IGSF5 immunoglobulin superfamily, member 5 14702039,12477932,10830953 150084 NM_001080444,AF121782,AL163280,AK092516,BC114922,CR606754 NP_001073913,CAB90447,Q9NSI5,AAI56233,AAI57007 Hs.422120 GDB:10796356 GSF5|JAM4 protein-coding 1343123 IGSF6 immunoglobulin superfamily, member 6 633060,1580863 9809579,12786995,12477932,11132146,9373149,8125298 633060 10261 NM_005849,AC092719,AJ278581,CH878403,AJ223183,AK223286,AK290910,AV717532,BC017844 NP_005840,CAC20440,EAW50523,CAA11155,BAD97006,BAF83599,AAH17844,O95976,ABM82939,ABM86128,ABW03678,ABW03775 Hs.530902 GDB:9955828 DORA protein-coding 1322991 IGSF8 immunoglobulin superfamily, member 8 11504738,17785435,16690612,16537545,15489334,15070678,14702039,14662754,12752121,12750295,12708969,12477932,11673522 93185 AL121987,CH471121,AF311906,AF407274,AK055843,AK090396,AY044845,AY157579,BC004108,BC011896,NM_052868,BC023649,BC053881 NP_443100,CAI15269,CAI15270,EAW52743,EAW52744,EAW52745,EAW52746,AAM94901,AAL01052,BAB71027,BAC03377,AAK92220,AAO13163,AAH04108,AAH11896,AAH23649,AAH53881,Q8NF83,Q969P0,Q96EW3 Hs.332012 GDB:11504365 CD316|CD81P3|EWI2|PGRL protein-coding 1312078 IGSF9 immunoglobulin superfamily, member 9 14702039,12975309,12477932,11991715,10718198 57549 NM_020789,AL513485,CH471121,AB037776,AK056650,AY203932,AY358128,BC030141 NP_065840,CAI14605,CAI14606,EAW52756,EAW52757,EAW52758,BAA92593,AAP34455,AAQ88495,AAH30141,Q6XYD8,Q9P2J2,ABM84562,ABM87853 Hs.591472 GDB:11506155 FP18798|IGSF9A|KIAA1355|Nrt1 protein-coding 1604824 IGSF9B immunoglobulin superfamily, member 9B 14702039,12975309,10470851 22997 NM_014987,AP000911,AP001979,AB028953,AB231704,AK097578,AY358228 NP_055802,BAA82982,BAE46874,BAC05109,AAQ88595,Q3C1X3,Q6UXS3,Q8N7W7 Hs.204121 KIAA1030 protein-coding 1346066 IHG1 iris hypoplasia with glaucoma 1 3548 GDB:119343 1350368 IHH Indian hedgehog homolog (Drosophila) 1600032,1600033,1580863 14770182,14651602,14520411,12917489,12632327,12525541,12477932,12384778,12368206,12176676,11476578,11455389,11435703,10462495,10050855,9811851,9593755,9186520,8824192,7720571,7590746,17962696,17486609,17387386,17360475,16871364,16335952,16322088,15839736,15489334,15146555,15105288 1600032,1600033 3549 NM_002181,AB018076,AC097468,CH471063,CS126482,BC034757,L38517 NP_002172,BAA33523,AAX88920,EAW70675,CAJ18810,AAH34757,AAA62178,Q14623,Q4ZFW8 Hs.654504 GDB:511203 BDA1|HHG2 protein-coding 1343323 IHPK1 inositol hexaphosphate kinase 1 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been described. 1580863 10574768,16189514,15489334,15221640,12477932,11502751,10827188,10567691,9776982,9039502 9807 NM_001006115,NM_153273,AC099668,AC139451,AC141000,CH471055,AK289772,AL561521,BC012944,BE387671,BG720032,BI193048,CB152138,CR598761,CR609527,CR621384,D87452 NP_001006115,NP_695005,EAW65016,EAW65017,EAW65018,EAW65019,EAW65020,BAF82461,AAH12944,BAA13393,Q92551 Hs.386168 GDB:9785402 IP6K1|MGC9925|PiUS protein-coding 731328 IHPK2 inositol hexaphosphate kinase 2 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. 1302730 10574768,11337497,11502751,17379600,15533939,15489334,14702039,12477932,11896621,10827188,9776982,9110174,8619474,16189514 1302730 51447 NM_016291,NM_001005909,NM_001005910,NM_001005911,AC141002,CH471055,AF177145,AK024045,AK097016,AL117458,AL137514,AY007091,BC001864,BC004469,BC019694,BC065533,BX537544,CB144374,CR592174,CR595425,CR603467,CR607564,CR616816,CR618536,CR622751,CR624222 NP_057375,NP_001005909,NP_001005910,NP_001005911,EAW64920,EAW64921,EAW64922,EAW64923,EAW64924,AAF15057,CAB55936,CAB70780,AAG01984,AAH01864,AAH04469,AAH19694,AAH65533,Q9UHH9,ABM82707,ABM85891 Hs.595983 GDB:11506157 IP6K2|PiUS pius protein protein-coding 1350328 IHPK3 inositol hexaphosphate kinase 3 This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. 1580863 11502751,14702039,12477932,9373149,8125298 117283 NM_054111,AL139044,CH471081,AF393812,AK056586,AK223572,AK289935,BC089389,CR623666 NP_473452,CAI16459,EAX03746,EAX03747,EAX03748,EAX03749,AAL17053,BAB71225,BAD97292,BAF82624,AAH89389,Q53ER7,Q5TAQ4,Q96PC2 Hs.17253 GDB:11506159 INSP6K3|IP6K3|MGC102928 protein-coding 1602214 IIP45 invasion inhibitory protein 45 15867349,14702039,14617774,12477932 60672 NM_021933,AL096840,CH471130,AK022500,AK024020,AK095928,AW196459,BC008068,BG536799,BI828925,CR591496,CR592183,CR603285,CR604336,CR604486,CR607498,CR610913,CR617109,CR621410,CR622933 NP_068752,CAI19089,EAW71729,BAB14062,BAB14781,AAH08068,Q5JXC2 Hs.8595 FLJ12438|FLJ38609 protein-coding 1347168 IK IK cytokine, down-regulator of HLA II The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. 1580863 7970704,16169070,14702039,12477932,11407974,10216252,9373149,9160666,9110174,8619474,8125298,14499622 3550 NM_006083,AC005369,AC007238,AC116353,CH471062,AF182645,AJ005579,AK097968,AK225924,AL050296,AY007094,BC013005,BC051295,BC071964,CR612510,S74221 NP_006074,EAW62028,EAW62029,EAW62030,AAD55447,CAA06607,CAB43395,AAG01985,AAH13005,AAH71964,AAB32531,Q13123,Q6IPD8,Q95HA6,Q9H4P6,Q9UK43,Q9Y3Z5 Hs.421245 GDB:438497 CSA2|MGC59741|RED protein-coding 734035 IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. 1580863 11714725,11818576,10094049,14667819,15383276,9751059,18434448,18264947,18091349,17644305,17591626,17206408,17137217,16964593,16713582,16344560,14743216,14702039,12774215,12577200,12477932,12116234,12102458,12058026,11179021,11179008,9373149,8125298,8102296,10936 8518 NM_003640,AL354797,AL359692,BX648204,CH471105,AB210033,AF044195,AF153419,AK001641,AK022559,AK024223,AK123257,AK127237,AK225798,AK289962,AL049945,BC033094,BF968300,CR749385,DA400136 NP_003631,CAI40569,EAW59027,EAW59028,EAW59029,EAW59030,EAW59031,BAE06115,AAC64258,AAG43369,BAF82651,CAB43219,AAH33094,CAI39465,CAH18235,O95163,Q4LE38,Q5JSV2,Q5JSV3,Q5JTR5,Q68DI5,Q8N516 Hs.494738 GDB:9864933 DKFZp781H1425|DYS|ELP1|FD|FLJ12497|IKAP|IKI3|TOT1 inhibitor of kappa light polypeptide enhancer in b-cells, kinase complex-associated protein protein-coding 733968 IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008, or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 1580863,2292150,2292172 16319058,9346484,9346485,9813230,15790681,9744859,10723127,18434448,18316610,18260825,18163512,18037881,17997719,17962807,17947699,17939994,17693255,17684021,17616684,17466952,17446166,17419715,17363905,17244613,17237423,17145747,17114296,17079871,17016640,16998237,16989899,16982623,16966325,16938294,16728640,16583354,16365431,16280329,16267042,16207722,16177806,16135815,16126728,16123045,16082226,16046471,16024783,15951441,15880043,15837793,15761153,15749833,15564333,15492226,15489334,15489227,15456791,15383283,15319427,15254232,15226300,15217951,15140882,15128824,15084260,14990741,14743216,14715628,14702039,14625285,14585990,14585847,14585846,14560022,14514672,12890679,12842894,12707358,12657630,12645577,12637324,12589056,12547194,12492477,12486112,12477932,12411322,12393548,12351658,12210728,12133833,12070292,11971985,11954826,11945026,11864612,11839743,11815618,11777949,11606564,11594795,11585904,11527961,11460167,11429546,11359906,11158290,11120819,11002417,10968790,10962033,10848580,10783893,10779355,10755617,10722755,10713178,10521409,10485711,10469655,10356400,10195894,10022904,9878263,9819420,9763654,9751060,9751059,9721103,9689078,9346241,9214631,8657102,8601309,17182689,11959143,15856023,15802604,15494311,15808510 2292150,2292172 3551 BC141978,BX648165,CR607076,NM_001556,AC083973,AY663108,CH471080,AB209090,AF029684,AF031416,AF080158,AK023193,AK091297,AK097828,AK290952,AL708460,BC006231,BC090865,BC108694,BC127663 AAI41979,O14920,Q32ND9,Q59GL9,NP_001547,AAT65965,EAW63222,EAW63223,EAW63224,EAW63225,EAW63226,BAD92327,AAC51860,AAC64675,AAD08997,BAF83641,AAH06231,AAI08695,AAI27664 Hs.656458 GDB:9539644 FLJ40509|IKK-beta|IKK2|IKKB|MGC131801|NFKBIKB protein-coding 1318072 IKBKE inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 1580863 10882136,16177806,17353931,12761501,10421793,18434448,17574021,17328045,17327220,17003035,16888014,16840782,16731946,16710414,16380379,16299251,15879144,15767399,15695821,15550384,15489334,15489227,15367631,14743216,14702039,14560022,12736252,12692549,12676577,12477932,12133833,11902829,11839743,11470787,10759890,8590280,11959143 9641 NM_014002,AL354681,CH471100,DQ667176,AB016590,AF241789,AK093798,AL706097,AY660028,BC105923,BC105924,BC107591,BC107812,D63485 NP_054721,CAI15250,EAW93547,EAW93548,EAW93549,ABG25921,BAA85155,AAF45307,AAI05924,AAI05925,AAI07813,BAA09772,Q14164,Q3B754 Hs.321045 IKK-i|IKKE|IKKI|KIAA0151|MGC125294|MGC125295|MGC125297 protein-coding 1347094 IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma Familial incontinentia pigmenti (IP) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males (The International Incontinentia Pigmenti Consortium, 2000 [PubMed 10839543]). In affected females it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. The prominent skin signs occur in 4 classic cutaneous stages: perinatal inflammatory vesicles, verrucous patches, a distinctive pattern of hyperpigmentation, and dermal scarring. Cells expressing the mutated X chromosome are eliminated selectively around the time of birth, so females with IP exhibit extremely skewed X-inactivation. Familial incontinentia pigmenti is caused by mutations in the NEMO gene and is here referred to as IP2, or 'classical' incontinentia pigmenti. Sporadic incontinentia pigmenti, the so-called IP1, which maps to Xp11, is categorized as hypomelanosis of Ito (MIM 300337).[supplied by OMIM] 1600008,1580863,2292150,2292172 11113112,9927690,15125833,16831874,9751060,9744859,10723127,11256614,18287044,18201555,17932497,17910706,17766391,17702576,17468758,17401626,17401323,17314097,17244613,17145747,17043643,17000764,16906147,16794254,16737960,16684768,16611882,16583354,16497931,16379012,16360037,16319058,16148947,15870263,15749833,15601896,15578091,12612076,12530972,12477932,12192055,12138192,12133833,12045264,11971985,11971901,11877453,11864612,11830587,11709543,11673821,11590134,11551959,11495908,11418127,11410370,11242109,11224521,11080499,11064457,11047757,10968790,10962033,10962024,10944468,10880512,10839543,10755617,10364167,10087442,9891086,16189514,14585990,12351658,14653779,15327770,15802604,12435599,15489334,15456791,15356572,15341735,15229184,15184390,15100680,14764716,14754897,14743216,14726382,14695475,14684825,14651848,14597638,14585847,12943667,12917691,12867425,12657630 1600008,2292150,2292172 8517 NM_001099857,NM_003639,AF277315,AJ271718,CH471172,AF062089,AF074382,AF091453,AF261086,AK000593,AY114157,AY429546,AY429547,BC000299,BC012114,BC046922,NM_001099856,BC050612,BT019621,CR600010,CR603029,CR604149,CR612085,DC410130 NP_001093326,NP_001093327,NP_003630,AAL27012,CAB93146,EAW72677,EAW72678,EAW72679,EAW72680,EAW72681,AAD12183,AAC36330,AAD38081,AAF99679,AAM44073,AAH00299,AAH12114,AAH46922,AAH50612,AAV38427,Q7LBY6,Q7Z7F1,Q9Y6K9,ABM82309,ABM85486 Hs.43505 GDB:9864934 AMCBX1|FIP-3|FIP3|Fip3p|IKK-gamma|IP|IP1|IP2|IPD2|NEMO protein-coding 1626258 IKBKGP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma pseudogene 11709543 246210 NG_001576,AF277315 deltaNEMO pseudo 1605589 IKIP IKK interacting protein 15389287,14702039,12477932 121457 AK123069,BC029415,BC051372,BC058933,BC107572,NM_201613,NM_201612,NM_153687,AC013283,CH471054,AJ539425,AJ539426,AJ539427,AK055613,CR622083 BAC85528,AAH29415,AAH51372,AAH58933,AAI07573,NP_963907,NP_963906,NP_710154,EAW97601,EAW97602,CAD62380,CAD62381,CAD62382,CAD62383,BAB70970,Q3B7K3,Q6ZWH4,Q70UP9,Q70UQ0,Q86V91,Q96ND2 Hs.252543 FLJ31051 protein-coding 1345718 IKZF1 IKAROS family zinc finger 1 (Ikaros) 1580863 8543809,18332232,17681952,17476278,17383641,17357110,16364975,16205638,16189514,16081070,15618287,15489334,15390181,12799380,12690205,12626565,12477932,12412579,12200376,12127581,12094252,12015313,11959865,11937265,11908734,11812772,11799125,11489963,10978333,10766745,10753856,10577847,10357820,10218586,10204490,9892693,9560339,9155026,8964602,7935426,1439790 10320 NM_006060,AC124014,CH236955,CH471128,AF116605,AF432219,AM085310,AY377974,BC018349,BC064594,BF797348,BT009836,BU665456,S80876,U40462 NP_006051,EAL23900,EAW60977,EAW60978,EAW60979,EAW60980,EAW60981,EAW60982,AAF71030,AAL99925,CAJ29975,AAR84585,AAH18349,AAP88838,AAB50683,AAC50459,Q13422,Q3T907,Q53XL2,Q69BM4,Q8TDG7,Q9P1M1 Hs.435949,Hs.488251 GDB:5875375 Hs.54452|IK1|IKAROS|LYF1|PRO0758|ZNFN1A1|hIk-1 protein-coding 1318602 IKZF2 IKAROS family zinc finger 2 (Helios) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. 1580863 18332232,17681952,17297655,15489334,12752680,12477932,12153174,12115658,11937265,10978333,10541817,9560339,9512513,12015313,12943985,16189514 22807 NM_001079526,NM_016260,AC013736,AC079610,AC108066,AL157504,CH471063,AF130863,AI458439,AY008294,AY587062,AY587063,AY587064,AY587065,AY587066,AY587067,AY587068,AY587069,AY587070,AY587071,AY587072,AY587073,BC028936 Q6PQC8,Q6PQD0,Q6PQD1,Q6PQD3,Q96LD7,Q9UKS7,ABZ92398,NP_001072994,NP_057344,AAY24238,AAX93263,AAY24327,EAW70502,EAW70503,EAW70504,EAW70505,EAW70506,EAW70507,EAW70508,EAW70509,EAW70510,EAW70511,EAW70512,EAW70513,EAW70514,AAF09441,AAG22856,AAS99855,AAS99856,AAS99857,AAS99858,AAS99859,AAS99860,AAS99861,AAS99862,AAS99863,AAS99864,AAS99865,AAS99866,AAH28936,Q53QP1,Q53RV5,Q53SU9,Q53YJ5,Q6PQC4,Q6PQC5,Q6PQC6,Q6PQC7 Hs.604950 GDB:9957140 HELIOS|MGC34330|ZNF1A2|ZNFN1A2 zinc finger protein, subfamily 1a, 2 (helios) protein-coding 1315971 IKZF3 IKAROS family zinc finger 3 (Aiolos) This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. At least six alternative transcripts encoding different isoforms have been described. 1580863 10552935,18332232,18206652,18184862,17646674,17383641,17296582,17117180,12477932,12015313,11997672,11937265,11745366,11714801,10978333,10766745,10369681,9806640,9155026,10357820,16189514,10204490 22806 NM_183228,NM_183232,NM_183229,NM_183230,NM_012481,AC079199,AC090844,CH471152,AF129512,AJ292565,AJ292566,AJ292567,AJ292568,AJ292569,AY377973,NM_183231,AY377975,AY377976,AY377977,AY377978,AY377979,AY377980,AY377981,AY377982,BC032707 NP_899054,NP_899051,NP_899055,NP_899052,NP_899053,NP_036613,EAW60604,EAW60605,EAW60606,EAW60607,EAW60608,EAW60609,AAF13493,CAC80427,CAC80428,CAC80429,CAC80430,CAC80431,AAR84584,AAR84586,AAR84587,AAR84588,AAR84589,AAR84590,AAR84591,AAR84592,AAR84593,AAH32707,Q69BL6,Q69BL7,Q69BL8,Q69BL9,Q69BM0,Q69BM1,Q69BM2,Q69BM3,Q69BM5,Q8N574,Q9UKT9,ABZ92305 Hs.444388 GDB:9957139 AIO|AIOLOS|ZNFN1A3 zinc finger protein, subfamily 1a, 3 (aiolos) protein-coding 1312328 IKZF4 IKAROS family zinc finger 4 (Eos) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM] 10978333,16344560,14702039,12444977,12015313,11347906,10218586,15494726 64375 NM_022465,AC034102,CH471054,AB058685,AF230809,AK055063,AK122880,BX647761,DA797441 NP_071910,EAW96872,EAW96873,EAW96874,BAB47411,AAG39221,BAB70849,Q96NN3,Q9H2S9 Hs.553221 GDB:9957138 EOS|KIAA1782|ZNFN1A4 zinc finger protein, subfamily 1a, 4 (eos) protein-coding 1322164 IKZF5 IKAROS family zinc finger 5 (Pegasus) Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM] 1580863 16189514,14702039,12477932,12094252,10978333,12511597 64376 NM_022466,AC073585,CH471066,AF230808,AK026626,AK122899,AK226143,BC022564,BX647958,CR591039,CR602407,CR749800 NP_071911,EAW49292,EAW49293,EAW49294,AAG39220,BAB15512,AAH22564,CAH56199,CAH18660,Q8TBE5,Q9H5V7,ABM83326,ABM86540 Hs.501289 DKFZp781B0249|FLJ22973|PEGASUS|ZNFN1A5 zinc finger protein, subfamily 1a, 5 protein-coding 735591 IL10 interleukin 10 The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. 1579929,1580478,1580479,1580480,1580481,1580494,1580863,1598487,1358665,1598465,1598466,1598469,1598471,1598472,1598477,1598480,1598481,1598483,1598484,1598486,1598621,1598622,1598623,1598624,1598625,1598626,1598627,1598628,1598629,1598630,1598632 1847510,11485736,8228801,11244051,8312229,10975994,9463379,9405662,8499633,10443688,9637497,9184696,17449476,18485518,18479293,18457043,18448485,18447856,18444945,18440625,18436829,18436572,18424735,18416756,18414898,18408074,18405249,18400189,18397303,18393655,18391751,18387831,18383862,18382869,18375254,18366487,18362084,18361934,18341210,18337305,18325328,18318911,18315435,18312596,18311435,18310311,18307517,18303205,18299793,18286551,18284424,18283248,18273643,18271063,18249038,18242340,18239807,18235016,17724799,17717744,17716608,17716348,17714919,17711410,17706223,17704111,17703177,17700165,17690329,17689273,17688234,17686006,17684137,17678726,17674321,17665434,17656331,17654453,17653830,17652887,17645589,17645476,17640324,17640058,17634568,17627763,17618436,17617027,17612762,17607501,17605296,17597660,17592300,17587715,18234854,17761309,17587429,17574964,17572155,17568575,17565648,17559576,17559370,17552041,17548183,17546224,17544800,17544674,17544514,17543146,17537769,17530721,17524861,17522354,17511783,17510437,17509455,17498265,17496310,17490670,17487426,17483704,17470530,17463301,17460178,17454884,17448042,17444864,17444587,17438520,17431682,17428673,17420099,17413867,17412916,17408400,17407084,17393023,17389235,17389013,17388919,17380888,17380193,17373677,17369174,17355643,17353161,17351514,17338374,17336597,17335372,17331973,17326156,17321902,17321603,18230105,18221542,18218037,18216090,18212693,18208460,18201362,18200504,18199828,18192685,18191118,18184461,18174250,18174230,18173702,18171291,18165865,18164040,18163209,18158121,18093884,18093541,18093240,18090276,18086767,18071881,18071035,18057536,18056971,18056366,18054497,18049335,18042256,18041006,18039196,18024395,18023521,18023359,17999153,17988266,17981284,17980158,17979488,17974504,17968299,17965799,17961177,17960405,17947295,17945537,17938902,17932439,17929139,17923267,17919702,17917921,17916230,17908769,17903648,17889143,17884957,17875573,17875118,17869646,17846855,17845635,17825889,17804501,17763336,17763324,17762971,15592292,15581980,15579481,15579372,15573087,15566952,15562761,15561982,15551142,15547296,15534100,15530917,15527169,15497451,15488737,15485815,15466015,15465816,15462469,15458467,15452323,15388260,15381182,15374585,15368517,15367225,15361128,15361124,15351436,15346339,15345504,15345120,15340161,15325406,15325405,15316663,15316224,15306847,15304673,15295621,15292362,15292002,15288631,15271933,15265021,15247172,15247007,15246967,15235132,15225432,15223612,15223609,15221281,15214940,15212825,15207246,15200452,15200436,15194285,16815316,16809636,16807647,16804000,16803996,16803995,16803619,16785496,16780675,16764598,16762155,16759385,16734562,16730575,16723241,16722148,16720211,16720107,16712948,16707559,16702858,16702372,16699452,16699450,16698426,16698276,16690518,16690414,16681592,16672419,16672072,16672066,16644716,16638698,16635219,16618781,16611358,16600026,16585075,16584395,16579847,16573780,16573560,16570020,16567828,16566641,16551363,16540751,16537707,16537004,16525502,16523426,16522370,16507146,17178344,17173255,17163451,17152005,17145373,17145371,17141301,17138064,17138053,17133531,17132891,17122782,17113632,17107380,17103073,17097497,17092253,17083041,17070109,17052682,17052299,17051272,17049666,17041236,17015751,17015714,17006724,17006334,17005410,17003778,16987066,16984283,16978071,16973274,16971956,16962335,16961803,16959027,16949747,16945026,16943796,16940525,16938461,16933851,16931134,16930778,16924108,16920714,16911685,16908746,16907941,16905295,16895750,16889540,16883528,16872712,16867043,16863661,16861684,16861661,16859504,16859503,16850164,16842617,16826368,16824159,16824070,16820919,16820326,16489646,16481285,16461080,16460885,16449530,16441483,16435103,16433832,16425360,16424284,16413199,16412052,16411061,16403098,16396704,16389181,16380445,16378687,16378074,16364177,16362796,16361810,16343245,16341266,16331571,16323614,16323127,16313808,16305644,16287924,16287542,16284379,16279907,16276011,16259956,16256199,16249504,16247433,16243534,16493441,15933064,15932621,15931634,15927856,15927351,15925543,15919456,15919371,15918171,15915323,15914210,15910294,15907845,15901906,15900488,15894515,15886526,15884119,15871134,15863393,15848524,15845862,15843082,15842590,15841043,15838798,15837194,15818327,15815689,15815688,15814743,15814696,15811521,15810889,15809210,15803357,15800006,15787640,15784411,15780879,15780075,15773449,15772682,15763337,15761493,15755291,15749884,15748779,15747244,15733644,15728515,15723707,15718915,15714121,15711248,15709194,15694997,15693804,15690532,15686588,15682481,15678510,15674653,15663966,15663746,15661939,15659329,15652446,15650893,15644127,15643599,15622443,15621151,15611648,15607028,15603866,15602175,15599664,15599305,15596839,17314689,17310845,17307204,17304105,17263806,17261759,17261758,17257312,17241871,17238853,17237722,17237407,17230494,17225142,17220333,17215862,17215337,17213232,17209781,17208210,17206322,17204399,17202341,17198275,17188628,17182240,17178764,16232344,16230423,16226734,16202743,16193177,16184405,16183136,16182624,16173237,16171432,16165702,16164695,16163478,16162776,16148556,16133175,16122836,16120761,16114018,16109775,16100774,16098562,16091126,16084491,16083174,16078336,16076299,16059673,16051275,16043989,16043936,16043753,16038043,16034145,16030322,16030091,16024856,16014616,16008678,15993715,15990800,15985167,15979955,15978325,15964392,15951665,15941525,15940038,15937090,15933743,15066699,15057902,15057267,15042002,15041164,15039132,15036247,15021309,15016829,15007355,15001471,14999688,14994383,14978075,14969768,14959851,14872501,14756669,14748015,14746878,14746814,14744383,14742283,14730222,14722888,14701704,14701701,14698136,14697935,14697748,14682393,14679088,14675398,15194284,15191519,15189946,15188059,15187110,15180472,15179129,15170937,15161508,15155645,15152368,15144570,15142213,15135368,15131577,15129234,15127646,15122797,15122773,15120189,15116066,15104679,15102771,15100460,15086488,15085177,15084933,15078471,15072702,15070757,12944983,12944981,12942209,12940515,12938195,12938145,12934185,12926133,12925485,12909463,12867583,12864989,12861049,12851716,12850811,12847896,12847677,12828754,12826369,12826153,12825869,12824008,12823999,12818128,12813360,12802400,12799207,12799024,12792880,12791314,12791313,12791310,12788980,12788307,12787424,12782719,12778475,12765479,12761564,12761561,12756345,12746914,12746253,12743452,12738467,12738388,12730860,12727482,12727335,12714269,12714267,12709682,12707018,12705485,12700599,12700072,12688341,12687247,12687213,12676754,12671741,12668613,12667161,12663757,12662377,12654092,12651071,12640314,12633940,12631183,12627487,12626585,12618859,12616343,12615834,12609526,12599058,12595908,12595905,12594817,12591385,12945076,12590978,12581488,12578333,12558814,12554901,12548511,12544990,12540792,12538698,12535204,12534553,12531774,12526950,12525572,12509628,12507818,12496489,12496396,12495723,12493739,12486603,12477932,12477767,12458048,12451269,12447749,12444143,12438965,12438424,12438348,12438341,12423294,12420205,12404162,12394188,12393699,12393603,12393426,12392859,12390476,12389080,12377950,12370394,12239181,12233881,12232842,12223518,12220699,12220553,12219016,12215823,12209037,12207353,12207325,12207099,12203138,12202153,12197884,12190181,12189567,12170266,12165551,12164877,12164325,12160736,12151439,12145682,12133517,12133353,12124654,12121679,12121678,12119553,12117955,12115622,12104048,12101075,12100575,14669219,14657427,14647192,14646574,14642153,14638775,14631168,14630401,14629328,14625191,14616291,14597210,14592815,14585195,14583474,14572794,14567558,14566095,14563376,14562641,14551598,14550257,14523823,14522096,14514772,14512909,13129651,12971465,12967650,12959221,12946990,12100571,12097418,12095128,12095061,12093676,12089714,12078789,12069391,12069178,12067976,12060853,12050565,12047360,12042661,12039409,12028020,12020266,12011375,11994432,11991675,11986609,11970958,11964300,11964134,11960393,11956022,11953994,11953141,11952921,11943322,11929132,11928840,11922883,11920312,11919157,11908705,11906646,11896938,11883743,11881827,11869683,11857058,11852287,11838849,11833470,11829538,11828010,11821159,11820460,11805149,11792123,11777537,11758730,11745479,11740730,11737614,11717514,11715070,11689215,11640949,11544437,11544434,11544427,11528523,11517440,11496247,11493351,11478505,11477472,11441115,11436536,11404167,11391238,11354638,11316069,11316066,11315919,11307152,11298547,11294564,11292301,11271474,11266928,11266927,11260510,11238636,11233912,11230752,11223972,11212157,11196718,11196688,11196656,11192323,11168433,11163082,11160847,11121048,11044099,11023480,10985253,10775602,10714547,10542212,10231374,10064624,9788463,9743208,9689103,9334723,9312047,9234486,9162098,9043871,8910398,8898665,8897595,8881045,8590020,8402911,8364028,8248239,8037735,7759550,7749063,7695626,7591871,7590988,7547951,2173142,1350294,1121048,10807185,10089566,9534962,9143942,7553888,16547227,15603899,11087201,11137132,9096366,16160188,15481145,12089333,9658081,9225992,9108403,8764000,7815507,7511078,16781761,16429138,7527834,16375755,15857508,15956545,12270545,11023665 1579929,1580478,1580479,1580480,1580481,1580494,1598487,1358665,1598465,1598466,1598469,1598471,1598472,1598477,1598480,1598481,1598483,1598484,1598486,1598621,1598622,1598623,1598624,1598625,1598626,1598627,1598628,1598629,1598630,1598632 3586 NM_000572,AF295024,AF418271,AL513315,CH471100,DQ217938,U16720,X78437,AF043333,AY029171,BC022315,BC104252,BC104253,CR541993,CR542028,M57627 NP_000563,AAK19173,AAL06594,CAH71813,EAW93524,ABB01008,AAA80104,CAA55201,AAC03534,AAK38162,AAI04253,AAI04254,CAG46790,CAG46825,AAA63207,P22301,Q6FGS9,Q6FGW4,Q6LBF4,Q71UZ1,Q9BXR7 Hs.193717 GDB:128636 CSIF|IL-10|IL10A|MGC126450|MGC126451|TGIF 1643243 BW132_H protein-coding 731000 IL10RA interleukin 10 receptor, alpha The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. 1580863 8120391,11485736,15837194,8407942,18365030,17988330,17961716,17845543,17331973,17152005,17115186,17066477,16971956,16961803,16491350,15729365,15489334,15340161,15063762,12759436,12673894,12591723,12496489,12477932,12374810,12133952,12093920,12023331,11717514,11591769,11490020,11254683,10563471,10433356,10231374,9312047,8897595,8662928,8248239,7814035,7759550,7544437,7540068 3587 NM_001558,AP002962,AY195619,CH471065,AB209626,AK291645,BC028082,BM193545,U00672 NP_001549,AAN86349,EAW67343,BAD92863,BAF84334,AAH28082,AAA17896,Q13651,Q59F35,ABM81957,ABM84646 Hs.504035 GDB:330958 CDW210A|HIL-10R|IL-10R1|IL10R protein-coding 1345772 IL10RB interleukin 10 receptor, beta The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. 1580863 10954742,12483210,8314576,9463407,9312047,17567994,17152005,17062437,16344560,16109775,15985167,15489334,15340161,15178681,12477932,12469119,11485736,11450494,11416224,10875937,10830953,10077530,9047351,7563119 3588 AP000295,AY323826,CH471079,U08988,AK124057,AU133530,BC001903,BT009777,CR601076,CR618901,DQ655960,DQ655961,Z17227,NM_000628 NP_000619,AAP72016,EAX09840,EAX09841,AAA86872,BAC85761,AAH01903,AAP88779,CAA78933,Q08334,Q6ZVU9,ABM83478,ABM86689 Hs.654593 GDB:138168 CDW210B|CRF2-4|CRFB4|D21S58|D21S66|IL-10R2 protein-coding 736550 IL11 interleukin 11 The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. 1580863 2145578,1828438,7867561,7508917,17713553,17702845,17332920,17325843,17295091,17000646,16964382,16759877,16709613,16614887,16189514,16149067,15784719,15614128,15613426,15543003,15504551,15489334,15389536,15381181,15377473,15307108,15121272,15025215,15004839,14734714,12819039,12760902,12740032,12629504,12584029,12569176,12486609,12477932,12197884,12032273,12005542,11940481,10948192,10725745,10504396,10026196,8940087,8913282,8383296,7670098,7499280,1386338,1292471 3589 AC020922,NM_000641,AY207429,CH471135,M81890,AK290572,BC012506,M57765,X58377 NP_000632,AAO13493,EAW72371,BAF83261,AAH12506,AAA59132,CAA41266,P20809 Hs.467304 GDB:128000 AGIF|IL-11 protein-coding 732444 IL11RA interleukin 11 receptor, alpha Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified. 7670098,17332920,16964382,16614887,16291580,15512823,15489334,14744752,14702039,14701802,12569176,12477932,12200462,11498264,11315919,11241561,11141475,10504396,10026196,9632650,8808281,8786120,16189514 3590 NM_147162,AL162231,AY532110,CH471071,U32323,Z46596,AI377039,AK075530,AK094689,AK292073,BC003110,BT009864,CR605741,CR626348,U32324,Z38102,NM_004512,Z46595 NP_004503,NP_671518,CAH69857,CAH69858,AAS00093,EAW58422,EAW58423,EAW58424,EAW58425,AAB36491,BAF84762,AAH03110,AAP88866,AAB36492,CAA86224,CAA86570,Q14626,Q5VZ78,Q5VZ79,Q5VZ80,ABM83268,ABM86474 Hs.591088 GDB:624451 MGC2146 interleukin 11 receptor, alpha chain 1 protein-coding 1349516 IL11RB interleukin 11 receptor, beta 3591 GDB:624454 1351047 IL12A interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. 1580863 14675394,14660053,14629328,14566095,12944981,12911539,12672403,12633940,12576336,12558814,12542496,12477932,12472178,12444143,12358856,12270766,12242445,12213961,12117904,11940489,11751963,10320373,10089131,9671213,9616161,9603732,9516412,9334723,8760829,8700208,7695626,1358798,1350290,10352291,9712080,9158092,15331709,14764743,11087201,9225992,8648753,12719551,7867080,17671745,17653830,17640324,1674604,1673147,9342359,10899108,7903063,1357073,9789052,2204066,12372421,8992506,7605994,8557999,14718574,18413324,18311140,18159163,18092318,18050195,17947455,17922692,17846855,17627763,17564777,17509455,17461482,17444864,17361014,17304101,17257312,17236132,17225924,17152005,17062130,17007011,17002904,16961803,16938461,16885196,16803996,16764598,16754651,16734562,16702372,16573560,16544245,16230423,15963597,15937086,15863393,15810889,15741223,15643599,15489234,15448160,15361128,15356557,15170937,15087447,15051764,14962816,9108403,17077296,14597672,12370346,15956545,15817944,15780175,15142381,934235,7516408,7527811 3592 NM_000882,AC010370,AF050083,AF404773,CH471052,AF101062,AF180562,AW472810,BC035571,BC104982,BC104984,BG702253,M65271,M65291 NP_000873,AAC05211,AAC05212,AAK84425,EAW78656,EAW78657,EAW78658,AAD16432,AAD56385,AAI04983,AAI04985,AAA35694,AAA59937,P29459,Q7LDP2 Hs.673 GDB:127869 CLMF|IL-12A|NFSK|NKSF1|P35 protein-coding 1353629 IL12B interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. 1600042,1600043,1580863 18341612,18300039,18240960,18219280,18192685,18163209,18092318,18086266,18082575,18075513,18048021,18034172,17994425,17993580,17945537,17932439,17901940,17889143,17846855,17653830,17644387,17587057,17579859,17567674,17564777,17513774,17509455,17504509,17477815,17445208,17403771,17392024,17388919,17347151,17327408,18367309,17236132,1674604,10899108,9789052,1673147,7903063,8992506,18485489,18449199,18438406,18422730,18413324,18389618,18383521,18369459,15644581,15620465,15603869,15523691,15489334,15483662,15482860,15464247,15448160,15356557,15322986,15295696,15285014,15102082,15057902,15007350,15004750,14976188,14962816,14746806,14679201,14675396,14551880,12914676,12876411,12857749,12672403,12542496,12477932,12472178,12424627,12424624,12413772,12297341,12270766,12241719,12207325,12202149,12117918,12117904,12100467,12086971,12065887,11978670,11972887,11940489,11820460,11813133,11753820,11751963,11197695,11196715,11114383,11110796,10890924,10419056,10320373,10207176,9854038,9700192,9671213,17172248,17152005,17148969,16966828,16789008,16772281,16750991,16712658,16681592,16637265,16600026,16574246,16514412,16216674,16210052,16100774,16039994,16005098,15993716,15988104,15941730,15937086,15871664,15869883,15858599,15837792,9603733,9603732,9516412,8799158,8760829,8551218,7843232,7836910,7698768,7695626,7565674,7527811,7527439,2204066,2070420,1358798,10352291,9712080,9158092,15331709,14764743,11087201,9225992,8648753,12719551,7867080,9108403 1600042,1600043 3593 NM_002187,AC011418,AF512686,AY008847,AY064126,CH471062,U89323,AF180563,AY046592,AY046593,BC067498,BC067499,BC067500,BC067501,BC067502,BC074723,M65272,M65290 NP_002178,AAM34792,AAG32620,EAW61576,AAD56386,AAL05890,AAL05891,AAH67498,AAH67499,AAH67500,AAH67501,AAH67502,AAH74723,AAA35695,AAA59938,P29460,Q8N0X8 Hs.674 GDB:127870 CLMF|CLMF2|IL-12B|NKSF|NKSF2 protein-coding 1349194 IL12RB1 interleukin 12 receptor, beta 1 The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The lack of expression of this gene was found to result in the immunodeficiency of patients with severe mycobacterial and Salmonella infections. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863 8943050,7911493,18478121,17403771,17392024,17284226,17236132,17152005,16159888,16088278,16084898,15993716,15941730,15243935,15178580,15063762,15004750,12743658,12719941,12671732,12596048,12594833,12496448,12477932,12023369,12020266,11857344,11424023,17222831,10415122,9637763,9603733,9469420,9373149,9284929,8958915,8125298,7843232,7527811,16189514,9038232,11114383 3594 BC137404,BX647221,U03187,NM_005535,NM_153701,NG_007366,AC020904,AJ297688,AJ297689,AJ297690,AJ297691,AJ297692,AJ297693,AJ297694,AJ297695,AJ297696,AJ297697,AJ297698,AJ297699,AJ297700,AJ297701,AY771996,CH471106,AK225919,AK290423,BC029121 AAI37405,AAA21340,P42701,Q8N6Q7,NP_005526,NP_714912,CAC10446,AAV28734,EAW84653,EAW84654,EAW84655,EAW84656,BAF83112,AAH29121 Hs.567294 GDB:375777 CD212|IL-12R-BETA1|IL12RB|MGC34454 protein-coding 1346577 IL12RB2 interleukin 12 receptor, beta 2 The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. 1580863 8943050,18353079,17622942,17236132,17152005,15976343,15901746,15489334,15140029,15004750,14559241,12804004,12768436,12743658,12719941,12477932,11940489,11441083,11438525,11306945,10663559,10600539,10415122,10198225,9890938,9605872,9498755,9284929,9120388,8401589,7911493,9038232 3595 NM_001559,AF349574,AL358512,AL389925,AY640177,CH471059,BC104772,BC104774,U64198 NP_001550,CAH70407,CAH70409,AAT45456,EAX06499,EAX06500,AAI04773,AAI04775,AAB36675,Q5VWK8,Q99665 Hs.479347 GDB:5592574 RP11-102M16.1 protein-coding 69008 IL13 interleukin 13 This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. 1580863,2290344 18186920,18073124,18056382,18037162,18028994,18006935,17911623,17883727,17868461,17717322,17644317,17623648,17615386,17603012,17597813,17561245,17560640,17548690,17543424,17517104,17451413,17418380,17388919,17355643,17347445,17346294,17313976,17303923,17303794,17291854,17287067,17284225,17264150,17251453,17235327,17209513,17201240,17183946,17182591,17142763,17097743,17091279,17090525,17082655,17016624,17006604,17001290,16987060,16961803,16951338,16918506,16914241,16867043,16849505,16832637,16751012,16750991,16681592,16522370,16493441,16461126,16428771,16403098,16388492,16387595,16327802,16315031,16303333,16272823,16236836,16210662,16200868,16195814,16166103,16133987,16101942,16046318,16034134,16024972,16024651,16001979,15969687,15951665,15919378,15904474,15879126,15870068,15869882,15845862,15820084,15731584,15728267,15713213,15711639,15699166,15687724,15661077,15660293,15642470,15634905,15596681,15528258,15488706,15483090,15474066,15388001,15361241,15356573,15356556,15315330,15308043,16702372,10725748,8096327,9177784,18417506,18410779,18410415,18341619,18273035,18263811,18243101,15229217,15191916,15187156,15163899,15163701,15155645,15155567,15146247,15014952,15007355,15007352,15005726,15004182,14984938,14983029,14764428,14756548,14734771,14669230,14634100,14564352,14561191,14551608,14512310,14510917,12944981,12935900,12928861,12920029,12897746,12884288,9856950,9856949,9139718,8605348,8099936,8097324,7721105,7530359,7521694,1408833,12794003,12748907,12748293,12704784,12682264,12654630,12594065,12548511,12525574,12477932,12441140,12424628,12413765,12396617,12377947,12370400,12370393,12223527,12207328,12189139,12165514,12163193,12152987,12145428,12097410,12089714,12067309,12063528,11980568,11940068,11830476,11825773,11786536,11709756,11678850,11588017,11396683,11278629,11197307,11149986,11003391,10753117,10699178,10651852,10227975,10623799,12089333,9226003,16375755 2290344 3596 NM_002188,AC004039,AF172149,AF172150,AF193838,AF193839,AF193840,AF377331,AF416600,AY008331,AY008332,CH471062,L13029,L42079,L42080,U10307,U31120,AF043334,BC096138,BC096139,BC096140,BC096141,L06801,X69079 NP_002179,AAK53823,EAW62324,EAW62325,EAW62326,EAW62327,AAA83738,AAB01681,AAC03535,AAH96138,AAH96139,AAH96140,AAH96141,AAA36107,CAA48823,CAA48824,P35225,Q4VB50,Q4VB51,Q4VB52,Q4VB53 Hs.845 GDB:138171 ALRH|BHR1|IL-13|MGC116786|MGC116788|MGC116789|P600 protein-coding 1347132 IL13RA1 interleukin 13 receptor, alpha 1 The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. 1580863 12935900,9013879,9083087,17392323,17006604,16918506,15870068,15489334,14527737,12594065,12522691,12477932,12354755,12223527,11939409,11278629,11058569,11003391,10409622,8910586,7569905,16189514 3597 NM_001560,AB031393,AL391280,CH471161,AB209849,AK123515,BC009960,BC015768,CR603161,U81379,U81380,Y09328,Y10659 NP_001551,CAI41409,CAI41410,EAW89893,EAW89894,BAD93086,BAC85635,AAH09960,AAH15768,AAD00510,AAD00511,CAA70508,CAA71669,P78552,Q59EG2,Q5JSL4,Q6ZW70,Q96BB4,Q9UDY5,ABM84380,ABM87295 Hs.496646 GDB:5218412 CD213A1|IL-13Ra|NR4 protein-coding 1347847 IL13RA2 interleukin 13 receptor, alpha 2 The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. 1580863 9725226,9083087,18172271,18028464,18024961,17917751,17804706,17560640,16981293,16902988,16751396,16327802,15870068,15772651,15489334,12816724,12485861,12477932,12445201,12231526,11786536,11352909,11003391,9177784,9130652,8663118 3598 NM_000640,AL121878,AY656702,CH471120,AK291957,BC020739,BC033705,CR594473,CR623092,U70981,X95302,Y08768 NP_000631,CAD18962,AAT49099,EAX02621,EAX02622,BAF84646,AAH20739,AAH33705,AAB17170,CAA64617,CAA70021,Q14627,ABM85056,ABW03720 Hs.336046 GDB:3922546 CD213A2|IL-13R|IL13BP protein-coding 737535 IL15 interleukin 15 The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. 1580863,1626609,1626612,1626618,1626616,1626610 11807773,11751999,11746271,11702064,11680634,11581322,11369758,11287118,11168804,11134366,11134140,10869346,10784451,9405632,9176231,8977197,8932977,8668345,8568232,8026467,7641685,7568001,12089333,17077296,11122241,10388525,16427155,16189514,12757260,12747456,12734346,12623850,12598649,12571184,12542496,12477932,12453470,12421959,12401478,12393488,12391205,12379638,12297341,12237122,12165497,12147628,12115611,12114302,12089714,11972069,11919076,11876762,11830476,11814312,16284400,8178155,10851076,7759105,14718574,18311795,18275895,18086532,17986095,17982063,17947730,17938255,17655329,17635814,17616399,17554368,17537415,17363780,17324400,17158609,17142786,17110377,17001647,16791279,16772281,16670327,16629787,16606671,16507118,16474399,16333313,16273100,16148110,16136475,16109314,16098919,16060678,16024007,15993713,15976176,15943034,15778359,15770395,15713701,15710591,15598425,15563472,15557159,15536127,15531573,15489334,15358647,15353479,15347678,15328153,15284244,15225634,15131572,15039446,15034035,14984938,14982947,14967307,14762166,14702039,14684414,14662842,14648805,14617758,14607946,14607929,14581351,14499665,12960322,12865812,12857602,12847234,12826231,12805064,12759422 1626609,1626612,1626618,1626616,1626610 3600 NM_172174,NM_000585,AC096774,AC118480,AF176907,CH471056,CS112464,CS163144,X91233,AF031167,AK122993,AK290619,AY720442,BC018149,BC100961,BC100962,BC100963,CR541980,CR542007,CR617455,CR617480,U14407,X94222,X94223,Z38000 NP_751914,NP_000576,EAX05083,EAX05084,EAX05085,EAX05086,EAX05087,CAJ13397,CAJ32191,CAA62616,AAB97518,BAF83308,AAU21241,AAH18149,AAI00962,AAI00963,AAI00964,CAG46777,CAG46804,AAA21551,CAA63913,CAA63914,CAA86100,P40933,Q6FGX7,ABM92165,ABM84635,ABM84636 Hs.654378 GDB:354804 IL-15|MGC9721 protein-coding 1313009 IL15RA interleukin 15 receptor, alpha The protein encoded by this gene is a cytokine receptor that specifically binds IL15 with high affinity. The receptors of IL15 and IL2 share two subunits, the IL2R beta and IL2R gamma chains. This forms the basis of many overlapping biological activities of IL15 and IL2. The IL2 receptor requires an additional IL2-specific alpha subunit for high affinity IL2 binding. This protein is structurally related to IL2R alpha, but is capable of binding IL15 with high affinity independent of other subunits, which suggests the distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported. The full length sequences of only two variants encoding distinct isoforms are available. 1580863 7641685,16284400,8530383,17948125,17655329,17363735,17121316,16757567,16377614,16308569,16060678,15531573,15489334,15265897,15263076,15164054,15039446,12477932,12115611,12114302,12045244,11777964,11714793,11418623,11160322,10480910,9110174,8619474,8104057,11064452 3601 NM_172200,NM_002189,AF283296,AL137186,AY316538,CH471072,AF035279,BC065506,BC074726,BC107777,BC121140,BC121141,BM546106,CR457064,CR542023,CR607367,CR609337,U31628 NP_751950,NP_002180,CAI41076,CAI41078,CAI41079,CAI41080,CAI41081,CAI41082,CAI41083,CAI41084,AAP69528,EAW86415,EAW86416,EAW86417,EAW86418,EAW86419,EAW86420,EAW86421,EAW86422,AAB88175,AAH65506,AAH74726,AAI07778,AAI21141,AAI21142,CAG33345,CAG46820,AAC50312,Q13261,Q3B769,Q5JVA0,Q5JVA1,Q5JVA3,Q5JVA4,Q5JVA6,Q5JVA7,Q5JVA8,Q6P0Q3 Hs.524117 GDB:622256 MGC104179 protein-coding 1349175 IL15RB interleukin 15 receptor, beta 3602 GDB:622257 1351288 IL16 interleukin 16 (lymphocyte chemoattractant factor) The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10438516,10343113,9990060,9743378,9699630,9422780,9373149,9271307,8977168,8609984,8125298,7910967,7615501,1851800,8599832,16375755,10477592,16178875,16177102,16144798,15886011,15820794,15784111,15619436,15560757,15383572,15342983,15253385,15187155,15175077,14755377,14734747,14718574,14705216,14702039,14657881,12923170,12620798,12477932,12450396,12191564,11999883,11937573,11714796,11032842,16189514,9144227,18394967,18264096,18097041,18006695,17577790,17537415,17303923,17221335,16455991,16447204,16387589,10479680 3603 AF077011,AF121105,AY497901,CH471136,AF053412,AK124565,AK124725,AK126222,AK128740,AK131530,AK222512,AL109669,AL109774,AL833554,AY324389,BC040272,BC050362,BC064911,CR749286,M90391,S81601,U82972,NM_172217,NM_004513,AC036196,AC103858 AAD15990,AAR89904,EAW99098,EAW99099,EAW99100,EAW99101,AAC12732,BAC85888,BAC86494,BAD18668,BAD96232,AAQ86961,AAH40272,AAH50362,CAH18141,AAD04636,AAB36371,AAB58261,Q05BE6,Q14005,Q53HR8,Q68DS9,Q6VVE6,Q6ZMQ7,Q6ZTT5,Q6ZVH3,Q8IUU6,Q9UME6,NP_757366,NP_004504 Hs.459095 GDB:364127 FLJ16806|FLJ42735|FLJ44234|HsT19289|IL-16|LCF|prIL-16 protein-coding 735883 IL17A interleukin 17A The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO). High levels of this cytokine are associated with several chronic inflammatory diseases including rheumatoid arthritis, psoriasis and multiple sclerosis. 729041,1580863 7499828,8390535,18400187,18337720,18311821,18311793,18157139,18156204,18097022,18092129,18079209,18075825,17982039,17965778,17912466,17876645,17828618,17682667,17644317,17635957,17613395,17545490,17486092,17384030,12477932,12421973,12417590,12297109,12183057,12165487,11936535,11472426,10328864,10225978,9973514,9878122,9765276,9764847,9518462,9367539,8676080,17083726,16859642,16533341,16419159,15972674,15916703,15845864,15811056,15811054,15642151,15535837,15489334,15459204,15388258,15340161,15321994,15305382,15218177,15025215,14718574,12772186,12721789,12667656 729041 3605 NM_002190,AL391221,AY460616,CH471081,BC066251,BC066252,BC066253,BC067503,BC067504,BC067505,U32659,Z58820 NP_002181,CAI16678,AAR23263,EAX04362,AAH66251,AAH66252,AAH66253,AAH67503,AAH67504,AAH67505,AAC50341,CAA91233,Q16552,Q5T2P0,Q6NZ94 Hs.41724 GDB:204230 CTLA8|IL-17|IL-17A|IL17 protein-coding 1352071 IL17B interleukin 17B The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. 724416,1580863 10639155,16805377,15713213,15489334,12975309,12477932,11738356,10749887 724416 27190 NM_014443,AC131025,AF386077,CH471062,AF110385,AF152098,AF184969,AF212311,AF218727,AY358931,BC113925,BC113946,CR457192 NP_055258,AAK60336,EAW61781,EAW61782,AAG39637,AAF28104,AAF01318,AAF78775,AAG44136,AAQ89290,AAI13926,AAI13947,CAG33473,Q6IAG3,Q9UHF5 Hs.156979 GDB:10795907 IL-17B|IL-20|MGC138900|MGC138901|ZCYTO7 protein-coding 1351651 IL17C interleukin 17C The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. 724416,1580863 10639155,15489334,12975309,12477932,11984595 724416 27189 NM_013278,AC116552,CH471184,CQ847631,AF152099,AY358471,BC069152,BC101835,BC112196 NP_037410,EAW66798,CAH18037,AAF28105,AAQ88835,AAH69152,AAI01836,AAI12197,Q9P0M4 Hs.278911 GDB:10795909 CX2|IL-17C|IL-21|MGC126884|MGC138401 protein-coding 1348652 IL17D interleukin 17D The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. 1580863 17068156,16670296,15489334,14702039,12975309,12477932,12097364 53342 NM_138284,AL161772,AL512652,CH471075,AF458062,AF479775,AK123964,AY078238,AY359113,BC036243 NP_612141,EAX08274,EAX08275,EAX08276,AAM77566,AAM12734,AAL86911,AAQ89471,AAH36243,Q5VUZ7,Q8TAD2,ABM81646 Hs.655142 GDB:10796358 FLJ30846|IL-17D|IL-22|IL-27|IL27 protein-coding 1322840 IL17F interleukin 17F The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. 1580863 11591732,11574464,18088064,17912466,17828618,17418381,17346928,16961709,16630936,15972674,15703761,15340161,14574404,12477932,11891214,11591768 112744 NM_052872,AL034343,CH471081,AF332389,AF384857,BC070124 NP_443104,CAD92646,EAX04363,EAX04364,AAL14427,AAK83350,AAH70124,Q6NSI0,Q96PD4 Hs.272295 GDB:11504367 IL-17F|ML-1|ML1 protein-coding 1315246 IL17RA interleukin 17 receptor A Interleukin 17A (IL17A)is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. 1580863 9367539,18097068,17876645,17456598,17346928,16805377,16785495,16533341,15972674,15489334,15340161,12772186,12477932,11966773,11381032,11706037,11371660,10591208 23765 NM_014339,AC006946,CH471193,AF021799,BC011624,BC012071,BE242733,CR594472,CT841520,U58917 NP_055154,EAW57738,EAW57739,EAW57740,EAW57741,AAH11624,CAJ86450,AAB99730,Q20WK1,Q96F46,ABM82888,ABM86078 Hs.129751 GDB:10795312 CD217|CDw217|IL-17RA|IL17R|MGC10262|hIL-17R interleukin 17 receptor protein-coding 1322830 IL17RB interleukin 17 receptor B The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. 1580863 10815801,10749887,17008703,16609019,16609001,16344560,15489334,15340161,14759258,12975309,12477932,11058597,10748240 55540 CS135264,CH471055,AF208110,AF208111,AF212365,AF250309,AY359122,BC000980,BI458542,CR615594,DA093617,NM_172234,NM_018725,AC012467,AY518533 EAW65298,EAW65299,AAR89910,AAF86051,AAF86052,AAF78776,AAK37428,AAQ89956,AAH00980,Q9NRM6,ABM81855,ABM85016,CAJ21520,NP_758434,NP_061195 Hs.654970 CRL4|EVI27|IL17BR|IL17RH1|MGC5245 protein-coding 1314983 IL17RC interleukin 17 receptor C This gene encodes a single-pass transmembrane protein that shares limited similarity with the interleukin-17 receptor. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, but the full-length nature of only three have been determined to date. 18097068,17911633,16785495,16688746,15489334,15340161,14702039,14504135,12975309,12477932,11706037,9373149,8125298 84818 BC006411,EF676032,EF676033,EF676034,AK092907,AK094746,AK096824,AK225650,AK290670,AK315024,AK315053,AY358840,AY359098,NM_153460,NM_032732,AC018809,CH471055,AF458065,AK075534,NM_153461 AAQ89456,AAH06411,ABV44615,ABV44616,ABV44617,Q8N2D7,Q8NAC3,BAC11677,BAC04001,BAF83359,AAQ89199,NP_703191,NP_703190,NP_116121,EAW64021,EAW64022,EAW64023,EAW64024,EAW64025,EAW64026,EAW64027,EAW64028,EAW64029,EAW64030,EAW64031,EAW64032,AAM77569 Hs.129959 FLJ95963|FLJ96005|IL17-RL|IL17RL|MGC10763 protein-coding 1353408 IL17RD interleukin 17 receptor D Fibroblast growth factors (FGFs; see MIM 603726) are secreted proteins involved in cellular proliferation, migration, differentiation, and survival. FGF activity is negatively regulated by members of the 'sprouty' family (e.g., SPRY1, MIM 602465). The SEF protein is a modulator of FGF signaling.[supplied by OMIM] 1580863 11802165,11802164,10737800,18096367,17420726,17035228,16859641,16474841,15489334,15277532,15239952,15146197,14742870,14702039,12975309,12958313,12807873,12604616,12477932 54756 NM_001080973,AC097358,CH471055,AF458067,AF494208,AF494211,AK001251,AK092579,AK093074,AK125591,AL133097,AL833913,AY358774,AY489047,BC038369,BC111702,BF803798,BQ017683,NM_017563,CN302483 NP_060033,NP_001074442,EAW65329,EAW65330,AAM77571,AAM74077,AAM74080,CAB61408,CAD38769,AAQ89134,AAS15051,AAI11703,Q8NFM7 Hs.150725 DKFZp434N1928|FLJ35755|IL-17RD|IL17RLM|MGC133309|SEF protein-coding 1602300 IL17RE interleukin 17 receptor E This gene encodes a protein that shares limited similarity with the interleukin-17 receptor. The function of the encoded protein has not yet been determined. Three alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. 14702039,12975309,12477932 132014 NM_153483,NM_153480,NM_153481,AC018809,CH471055,AF458069,AK074238,AK096793,AK096801,AY358451,BC035478,BC063110,BC137078 NP_705616,NP_705613,NP_705614,EAW64016,EAW64017,EAW64018,EAW64019,EAW64020,AAM77573,BAB85028,BAC04863,BAC04864,AAQ88816,AAH63110,AAI37079,Q8NFR9 Hs.390823 FLJ23658|MGC71884 protein-coding 1605488 IL17REL interleukin 17 receptor E-like 400935 NM_001001694,AL022327,CH471138,AK123987 NP_001001694,CAO03519,EAW73487,EAW73488,BAC85743,Q6ZVW7 Hs.526712 FLJ41993 protein-coding 730894 IL18 interleukin 18 (interferon-gamma-inducing factor) The protein encoded by this gene is a proinflammatory cytokine. This cytokine can induce the IFN-gamma production of T cells. The combination of this cytokine and IL12 has been shown to inhibit IL4 dependent IgE and IgG1 production, and enhance IgG2a production of B cells. IL-18 binding protein (IL18BP) can specifically interact with this cytokine, and thus negatively regulate its biological activity. 1580863 8999896,8766574,11905033,11466388,9792649,11598150,10653850,10227975,10000000,11477102,11506998,18484687,18464913,18442334,18433937,18399311,18307517,18297714,18286551,18250135,18235016,18225563,18225542,18200581,18178861,18165223,18163476,18160936,18160214,18093181,18092318,18064631,18050226,18050195,18043444,18024284,17984243,17981284,17965486,17962365,17959666,17951325,17948066,17922692,17919265,17907957,17893261,17854431,17851835,17851127,17845300,17767553,17765248,17708609,17691022,17688413,17687255,17683383,17674327,17671745,17626902,17625598,17611971,18279187,17610422,17597823,17597334,17586702,17530707,17517876,17517100,17487222,17461482,17445542,17399992,17396252,17373930,17364073,17361200,17355643,17343316,17336309,17301041,17299019,17262717,17252172,17237446,17235324,17225924,17225121,17222831,17192354,17142727,17611643,17117487,17075246,16049975,16043644,16024007,15963597,15955098,15932380,15927856,15896202,15894108,15863395,15860756,15860738,15842270,15826815,15816833,15806006,15802534,15789055,15786533,15760905,15753257,15731584,15728489,15710458,17072982,17055358,17027359,17016692,17001321,16979683,16971411,16943580,16909454,16903774,16883062,16842597,16839849,16827865,16820919,16806233,16772281,16767839,16759385,16738942,16676179,16671950,16650813,16635219,16621994,16584830,16571086,16563174,16556702,16516851,16514436,16493047,16492204,16443795,16433859,16433722,16428475,16424284,16420594,16406656,16406079,16405895,16373926,16358956,16339124,16325763,16316892,16315783,16306765,16306764,16306550,16273766,16266857,16260350,16243298,16215941,16186395,16084898,16078996,16061751,16059673,16053025,16052331,16051062,14640907,14630085,14617033,14605444,14584052,14581397,14561165,14556808,14504095,12947340,12941729,12938205,12911784,12874316,12858406,12857602,12847274,12819633,12796418,12794718,12788305,12759422,12748489,12738632,12679613,12654091,12616343,15674367,15663745,15646011,15645140,15644127,15643599,15585330,15581980,15555533,15489334,15471361,15463896,15371332,15358638,15327523,15326478,15308504,15302292,15277983,15230817,15225625,15212675,15140035,15104599,15005726,14998974,14991611,14960579,14764217,14738910,14734463,14725568,14718574,14709415,14697936,14679107,14662834,14660053,12594843,12572878,12571842,12527894,12517977,12482935,12477932,12472673,12472176,12456593,12438388,12424620,12401730,12390326,12387830,12381835,12377944,12366781,12207348,12172382,12149432,12105209,11960649,11958300,11936774,11920321,11907126,11895335,11894141,11888846,11855785,11805151,11798931,11790772,11781190,11770036,11714826,11714750,10681439,10639148,10460493,9693051,9334240,9325300,9108085,8999548,8666798,7477296 3606 NM_001562,AB015961,AJ295724,AP002007,AP002884,CH471065,AF077611,AF380360,AY044641,AY266351,BC007007,BC007461,BC015863,CR541973,CR542001,D49950,U90434 NP_001553,CAC01436,EAW67184,EAW67185,AAC27787,AAK57024,AAK95950,AAP92112,AAH07007,AAH07461,CAG46771,CAG46798,BAA08706,AAB50010,Q14116,Q6FGY3,Q6WWJ7,Q96KJ8,Q9NQ49 Hs.83077 GDB:6383035 IGIF|IL-18|IL-1g|IL1F4|MGC12320 protein-coding 1348622 IL18BP interleukin 18 binding protein The protein encoded by this gene is an inhibitor of the proinflammatory cytokine IL18. This protein binds to IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production. This protein is constitutively expressed and secreted in mononuclear cells. The expression of this protein can be enhanced by IFN-gamma. An elevated level of this protein is detected in the intestinal tissues of patients with Crohn disease. Three transcript variants encoding the same protein have been found for this gene. 1580863 10023777,11890646,18092318,17951325,16043644,15489334,15340161,15188356,14702039,12960225,12874202,12482935,12477932,12381835,11907126,11747989,11739524,11342109,10737800,10655506,10329540,10094485,8557689 10068 NM_001039660,NM_173042,AF110798,AF122908,AP002490,CH471076,AB019504,AF086560,AF110799,AF110800,AF110801,AF122906,AF215907,AK098255,AW295729,BC044215,BF934342,BX357194,CB154498,CR605363,CR606710,NM_001039659 NP_001034748,NP_001034749,NP_766630,AAD17187,AAD17188,AAD17189,AAD41053,EAW74812,EAW74813,EAW74814,EAW74815,EAW74816,EAW74817,EAW74818,EAW74819,EAW74820,BAA76374,AAD17190,AAD17191,AAD17192,AAD41051,AAF31697,AAH44215,O95998,Q9NZA9,Q9UNH2 Hs.591967 GDB:9954959 IL18BPa protein-coding 1318449 IL18R1 interleukin 18 receptor 1 The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. 1580863 9325300,17403771,16979683,16971411,16467876,16236915,16043644,15860756,15815621,15760905,15489334,15323361,15202785,15063762,15044087,15009178,14734551,14662859,14662834,12477932,12096920,10925275,10227969,10191101,8898719,8626725 8809 NM_003855,AC007248,CH471127,AY192162,BC069575,BC093975,BC093977,U43672 NP_003846,AAY15048,EAX01792,EAX01793,EAX01794,AAO41718,AAH69575,AAH93975,AAH93977,AAC50390,Q13478,Q86YL8 Hs.469521 GDB:9957280 CD218a|CDw218a|IL-1Rrp|IL18RA|IL1RRP protein-coding 1315691 IL18RAP interleukin 18 receptor accessory protein The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for IL18. This protein enhances the IL18 binding activity of IL18R1 (IL1RRP), a ligand binding subunit of IL18 receptor. The coexpression of IL18R1 and this protein is required for the activation of NF-kappaB and MAPK8 (JNK) in response to IL18. 1580863 9792649,18439550,18311140,18092318,17897836,16043644,15815621,15760905,15489334,12477932,11788557,11046021,10951141,10925275 8807 NM_003853,AC007248,AC007278,CH471127,AF077346,BC069630,BC106764,BC106765,BC137474,BC137475,DQ116957 NP_003844,AAY15049,AAY15080,EAX01791,AAC72196,AAH69630,AAI06765,AAI06766,AAI37475,AAI37476,AAZ52551,O95256,Q2QDE5,Q3KPE8 Hs.158315 GDB:9957275 ACPL|CD218b|CDw218b|IL18RB|MGC120589|MGC120590 protein-coding 1315107 IL19 interleukin 19 The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. 1580863 11196675,18479293,18246602,18006695,17522354,17465720,17449492,17263806,17083366,16778150,16710414,16631120,15827959,15815689,15557163,15340161,15120647,14675174,14580208,12486876,12477932,12403790,12370360,12351624,12023331,11929132,11564763,11163236,15857508 29949 NM_153758,NM_013371,AF276915,AF390905,AL049615,AL513315,CH471100,AF192498,AF453946,AY040367 NP_715639,NP_037503,AAG16755,AAK64498,CAB72342,CAH71814,EAW93522,EAW93523,AAF06663,AAN40906,AAK91776,Q5VUT3,Q9UHD0,AAI48535,AAI53128 Hs.661017 GDB:10796184 IL-10C|MDA1|NG.1|ZMDA1 protein-coding 735707 IL1A interleukin 1, alpha The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. 1300048,1358667,1580863 10748004,10861041,1924307,6209582,3493774,18484691,18484169,18469698,18416756,18416755,18393655,18361934,18322311,18321309,18315433,18306451,18292602,18284424,18278133,18271063,18211631,18199150,18166103,18158110,18157711,18086816,18085494,18063673,18052703,18038187,18024394,17997719,17986158,17978470,17964974,17960403,17954336,17949817,17948066,17941080,17932347,17926179,17907045,17889143,17823082,17717316,17716546,17711477,17638785,17627763,17622713,17621543,17610660,17596594,17584583,17575917,17573384,17549071,17541168,17532232,17507369,17500214,17492470,17477815,17473736,17471097,17460270,17458495,17449468,17448042,17444864,17444587,17440718,17436000,17391495,17388919,17378887,17371964,17369174,17360358,17355643,17353161,17348886,17335373,17335371,17335370,17331078,17309781,17293495,17290104,17257312,17244613,17214636,17205326,17197697,17179726,17149369,17141301,17140155,17138334,17083033,17034724,17012236,17002905,16978691,16971486,16965825,16965524,16961803,16945028,16938461,16931944,16930778,16918024,16911569,16907768,16905534,16900886,16888077,16885196,16879223,16856121,16842617,16814297,16788102,16764598,16734562,16733901,16720107,16719905,16708852,16702372,16684536,16636934,16619041,16573560,16567828,16564703,16564702,16546408,16517748,16510430,16508980,16504015,16478776,16464738,16433908,16428739,15830637,15797878,15777329,15745939,15737206,15733644,15732864,15727567,15726267,15723707,15694997,15679582,15679580,15638425,15633328,15592292,15587751,15581980,15566952,15563458,15562910,15562658,15561982,15551344,15514971,15489334,15489227,15476179,15468358,15465625,15381245,15377701,15361128,15351436,15341923,15338333,15308963,15270852,15248873,15238767,15220553,15219382,15201366,15190266,15170937,15130917,15117956,15082121,15068111,15050696,15039285,15036245,15009111,15007345,14997019,14986816,14984963,14983027,14974822,14735144,14705223,14693849,14688369,14674121,14673470,14672899,14664464,14656692,14644395,14639688,14634838,14633625,14612453,14584862,14566095,14533660,14514232,13679381,12974682,12947160,12946945,12931024,12930389,12930304,12928381,12928052,12913118,12901853,12899665,12890860,12874528,12869004,12824054,12801479,12794386,12782964,12759172,12752325,12752101,12749050,12746488,12746420,12742380,12737276,12730545,12729191,12714264,12710950,12702109,12673844,12667716,12651617,12641660,12631337,12626603,12622850,12613995,12598547,12562360,12558933,12558814,12530978,12528119,12528118,12519748,12477932,12453471,12445604,12445219,12425801,12404162,12390476,12370389,12362317,12242547,12220547,12218254,12212456,12210881,12209090,12195069,12164325,12161036,12149413,12140751,12115182,12115161,12102486,12101079,12100571,12082592,12070246,12052541,12052540,12051868,12047332,12037600,12034804,12028539,11991722,11991668,11956022,11940570,11930657,11921766,11911995,11895546,11895290,11858158,11840488,11790645,11784248,11777547,11774564,11774556,11737511,11703512,11669478,11640949,11574262,11554782,11466363,11453239,11448121,11436125,11427627,11423389,11350506,11350500,11278614,11241561,11233912,11145836,11145356,11138328,11093146,11079552,11065142,10998424,10953177,10860666,10744718,10625660,10512743,10441334,9820540,9169134,8621446,8436814,8370968,8346241,8188271,7878046,7857652,7818827,7695626,7566121,7526541,7499244,7494249,3486405,3485152,3281727,2994016,2989698,2783369,2635664,2346741,1675504,1584804,8938574,8892361,7706435,1993354,16160188,15481145,12089333,9658081,9225992,9108403,8764000,7815507,7511078,7561697,1905933,1548758,8458986,16934308,9185130,2536171,16792821,16375755,16189514,16411061,16410066,16410064,16403098,16389181,16384981,16378839,16369899,16361815,16318580,16317381,16304445,16291395,16268484,16246569,16230423,16226351,16206345,16159520,16155691,16115908,16106254,16101131,16100774,16078996,16046471,16030091,16021081,15986200,15974847,15954918,15951664,15931231,15854776,15836820 1358667 3552 AC079753,AC112235,AF536338,BN000002,CH471217,X03833,BC013142,BC035169,BT007014,CA307202,CR457414,M15329,X02531,X02851,X56086,NM_000575 NP_000566,AAX93054,AAM96189,CAD29871,EAW73604,CAA27448,AAH13142,AAP35660,CAG33695,AAA59133,CAA26371,CAA26604,CAA39566,P01583,Q53QF9,ABM81601,ABM84782 Hs.1722 GDB:120695 IL-1A|IL1|IL1-ALPHA|IL1F1 interleukin 1 alpha protein-coding 730981 IL1B interleukin 1, beta The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. 1358741,1358742,1580863,1626623,1626631,1626681,1626624,1626635,1626644,1626620,1625405,1626629,1626652,1626658,1626673,1626633,1626634,1626671,1626679,1626655,1626672,1626676,1626677,1626632,1626645,1626627,1626628,1626637,1626641,1626680,1626682,1626636,1626638,1626661,1626625,1626657 1919436,9062193,10786823,10748004,9218611,2989698,3493774,18484691,18484169,18469698,18468936,18465425,18446054,18416756,18416755,18396211,18396210,18392912,18389618,18385937,18369665,18366487,18364273,18361937,18354254,18346907,18344712,18336824,18335579,18333945,18332211,18332090,18322311,18321309,18315433,18311798,18310311,18299273,18291094,18289837,18288454,18281914,18278133,18274637,18273643,18271063,18239554,18235016,18225559,18216863,18199150,18186699,18174250,18173740,18165865,18164995,18164040,18163503,18157816,18156442,18154955,18092345,18090474,18088554,18086767,18078818,18078615,18069935,18065201,18063673,18063379,18063307,18062835,18060744,18052726,18052703,18048494,18047563,18042638,18038187,18024394,17988804,17986158,17982107,17981284,17978470,17964974,17963170,17960403,17954336,17926179,17920311,17908769,17907163,17907045,17903994,17901998,17900510,17895302,17890880,17889143,17877801,17867984,17854800,17854273,17850436,17846855,17845308,17827818,17763411,17763205,17724799,17716546,17711477,17686006,17685194,17681918,17681786,17678915,17676277,17656565,17645589,17645476,17640966,17640324,17638785,17634253,17627763,17627086,17622713,17618436,17611673,17611547,17611197,17610660,17608808,17607547,17600714,17597660,17596959,17596594,17593860,17592300,17587593,17586709,17586708,17584583,17575917,17573384,17563722,17562931,17548806,17541951,17535900,17532232,17518659,17511783,17510951,17500214,17492470,17483707,17477815,17477779,17471097,17466952,17463301,17460270,17458495,17458053,17454884,17453826,17453104,17448042,17446060,17444864,17444587,17435158,17426109,17420005,17413037,17388919,17385677,17380888,17369174,17365860,17361014,17360530,17359523,17356794,17355643,17353161,17353049,17348886,17348213,17341683,17338374,17335817,17335371,17335370,17334075,17324969,17314118,17309751,17307379,17307204,17304101,17297261,17295877,17295876,17287896,17284226,17283089,17265786,16260731,16257277,16253969,16251478,16249450,16226351,16217062,16216268,16211343,16207716,16206345,16202743,16181755,16174285,16172101,16164697,16159520,16155691,16146780,16143884,16137184,16133447,16133074,16131798,16128937,16126303,16120761,16115908,16114018,16106254,16100774,16098232,16096333,16095910,17258699,17257312,17241868,17235630,17222831,17213232,17207379,17201881,17196954,17189320,17182583,17177339,17169726,17142509,17141301,17140155,17138334,17132473,17126449,17126080,17115419,17114844,17107380,17103073,17096351,17083033,17082635,17075828,17069782,17068065,17054948,17054771,17052682,17036048,17035400,17034724,17026971,17015748,17015745,17006981,16820326,16817913,16815316,16814297,16798739,16795034,16785446,16777324,16775170,16769128,16766392,16764598,16764597,16734562,16713284,16708852,16702372,16699452,16698387,16684958,16675961,16675485,16638698,16637265,16636119,16635751,16635219,16634865,16627678,16618781,16617094,16601113,16596202,16579840,16574427,16573560,16550552,16549749,16546408,16541711,16540751,16538639,16533337,16521194,16520888,16510430,16508980,16505590,16469798,16469330,16464741,16464738,16456796,16455661,16454826,16439360,16436009,16425433,16425360,16424284,16411061,16405550,16403098,16389181,16380445,16380201,16369899,16362796,16362385,16361815,16359550,16358261,16338121,16324093,16323614,16319982,16310170,16304445,16297587,16284368,16284099,16268484,16263000,16088107,16087165,16078996,16053468,16046471,16043936,16038043,16036505,16030091,16026589,16025481,16021081,16019233,16002736,15986200,15979578,15974847,15967798,15966908,15956727,15954918,15951664,15950779,15931231,15927855,15925866,15917409,15916853,15914210,15910501,15900573,15900570,15895884,15891809,15885804,15884119,15880353,15878285,15866604,15851404,16095699,17006606,17003844,17003486,17002905,16998242,16985030,16984283,16973269,16965825,16961803,16955392,16945028,16942951,16938461,16931944,16930778,16918024,16911569,16907768,16905295,16900886,16886894,16883068,16883066,16870193,16864906,16864901,16860880,16858645,16856121,16842617,16840032,16824064,16820919,15836820,15834859,15833737,15830637,15817483,15816458,15810887,15809210,15803022,15800325,15797878,15787640,15777329,15766560,15755725,15733644,15732864,15727567,15726267,15723707,15723199,15710472,15704154,15694997,15688413,15679582,15672946,15665553,15663946,15658613,15644653,15641051,15633328,15610073,15602586,15597152,15592292,15583831,15566952,15562761,15562658,15561982,15561713,15581980,15579481,15560757,15551344,15550384,15540224,15539764,15539626,15529348,15520404,15509550,15496610,15489334,15488638,15485792,15476179,15472991,15470475,15464974,15458430,15388258,15382119,15381182,15380900,15379752,15377701,15373762,15372364,15363219,15361128,15351436,15347683,15341923,15341921,15339690,15338333,15336915,15329330,15325407,15318095,15308963,15308667,15306845,15300650,15300588,15297440,15292002,15289894,15288631,15286433,15279067,15273551,15270852,15266130,15265021,15257727,15257081,15248873,15247172,15240151,15236409,15236174,15235132,15233701,15223609,15222686,15220553,15212826,15208668,15201366,15192144,15191916,15190266,15188516,15188375,15187102,15184943,15175940,15172100,15170937,15162833,15159477,15146559,15146435,15141093,15127646,15115662,15088297,15082121,15077300,15073122,15070815,15068111,15063762,15039285,15036607,15036245,15020601,15019285,15017629,15014040,15009068,15003925,14997019,14990538,14986816,14985387,14984963,14982742,14974822,14966591,14966463,14961572,14764742,14760799,14758530,14750640,14746807,14735144,14723749,14691340,14681913,14675394,14675093,14673470,14672899,14669220,14664464,14662866,14661113,14657427,14656692,14644395,14638340,14634838,14633943,14632761,14617515,14585879,14584862,14584052,14582815,14566840,14566095,14563376,14533660,14527933,14523823,14522096,14521725,14515062,14514232,14512722,14510824,13679820,13129651,12974682,12970400,12965265,12958619,12945076,12930389,12928052,12913327,12901853,12899665,12891537,12890860,12881225,12874528,12869004,12860389,12854083,12842905,12837173,12828754,12824054,12807444,12802423,12801886,12801479,12795791,12790892,12788304,12775358,12761889,12756345,12752101,12751042,12749050,12746914,12746420,12744771,12743452,12730860,12730545,12729191,12727794,12726991,12725322,12722027,12718604,12718598,12718576,12714264,12705485,12702109,12700687,12699881,12694213,12673844,12668157,12667656,12667023,12651617,12651071,12637896,12637574,12631070,12626603,12622850,12615834,12606591,12606524,12598547,12595908,12593899,12593203,12578333,12572877,12568735,12562360,12558933,12551827,12533683,12530978,12529421,12525884,12519748,12500190,12493411,12482999,12477932,12475255,12472674,12468823,12454835,12445604,12445219,12441323,12433284,12431777,12418458,12391274,12390476,12385002,12377625,12370389,12362317,12356774,12297725,12239970,12235117,12231216,12220547,12215823,12212456,12210881,12195069,12193665,12191486,12184914,12165808,12164325,12163271,12161099,12161036,12149413,12140751,12133467,12133438,12133437,12121679,12121221,12117969,12117953,12117921,12115182,12115161,12114904,12105837,12102486,12101072,12100571,12095061,12093792,12082592,12077278,12070246,12067976,12052541,12052540,12050395,12050157,12044341,12042033,12039524,12038885,12034804,12031914,12028539,12021045,12009575,11991722,11981835,11958432,11955925,11950481,11930657,11921766,11920321,11898000,11896542,11895290,11876744,11868623,11858187,11858158,11857060,11853544,11851889,11849463,11847219,11840488,11838837,11806247,11801594,11790645,11784248,11777965,11774564,11770040,11762793,11756575,11751881,11737511,11703512,11686480,11686217,11669478,11665666,11641511,11640949,11606496,11600466,11579484,11578018,11574262,11531943,11527622,11506478,11498264,11481169,11476790,11466363,11448121,11427627,11423389,11422336,11380940,11350506,11350500,11278614,11260714,11241561,11238007,11233912,11226333,11211945,11171832,11145836,11138328,11127488,11093146,11083263,11079552,11076651,11051551,11023482,10964543,10860666,10779559,10746728,10744718,10625660,10512743,10438928,10358063,10339575,9820540,9714181,9378998,9169134,8869030,8852605,8663297,8432529,8188271,7981229,7878046,7818827,7797510,7526541,7494249,6209582,6083565,3490654,3281727,3264123,3259176,2954882,2946959,2898301,2635664,2602367,2585509,2466831,2372550,2137098,2001363,1919001,1837236,1835838,1753956,8939574,8892361,7706435,1993354,15481145,1918997,16160188,12089333,9658081,9225992,9108403,8764000,7815507,7511078,11500085,11704656,15288392,9288832,8537091,7561697,1905933,1548758,9185130,2536171,17077296,15638726,12574335,16792821,1907279,15748898,16375755,15194470,15518810 1358741,1358742,1626623,1626631,1626681,1626624,1626635,1626644,1626620,1625405,1626629,1626652,1626658,1626673,1626633,1626634,1626679,1626655,1626672,1626676,1626677,1626632,1626645,1626627,1626628,1626637,1626641,1626680,1626682,1626636,1626638,1626661,1626625,1626657 3553 NM_000576,AC079753,AY137079,BN000002,CH471217,M15840,X04500,X52430,X52431,AF043335,BC008678,BT007213,CR407679,K02770,M15330,M54933,X02532,X56087 NP_000567,AAX88888,AAM88883,CAD29872,EAW73605,EAW73606,EAW73607,AAA74137,CAA28185,AAC03536,AAH08678,AAP35877,CAG28607,AAA36106,AAA59135,AAA59136,CAA26372,CAA39567,O43645,P01584,ABM81599,ABM84780 Hs.126256 GDB:120094 IL-1|IL1-BETA|IL1F2 protein-coding 1313781 IL1F10 interleukin 1 family, member 10 (theta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. 1580863 18484691,18361937,18063673,16361275,15815621,15489334,12975309,12477932,11991723,11991722,11747621,11574262,11466363,11278614,11145836,11093146,10860666,10744718,10625660,10512743,9169134,8188271 84639 BC103967,BC103968,BC103966,NM_173161,NM_032556,AC016724,AF334756,AY972854,BN000002,CH471217,AF334755,AY026753,AY029413,AY358846 AAI03967,AAI03968,AAI03969,Q8WWZ1,NP_775184,NP_115945,AAY14991,AAK68049,AAX59032,CAD29878,EAW73619,EAW73620,AAK68048,AAK01948,AAK33010,AAQ89205 Hs.306974 GDB:11510066 FIL1-theta|FKSG75|IL-1HY2|IL1-theta|MGC119831|MGC119832|MGC119833 protein-coding 1322552 IL1F5 interleukin 1 family, member 5 (delta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. 1580863 10512743,18484691,16978071,16918024,16211343,16189514,15815621,15489334,15231748,14702039,14644395,12975309,12477932,11991722,11841485,11574262,11466363,11278614,11145836,11093146,10866108,10860666,10744718,10625660,9169134,8188271 26525 NM_173170,NM_012275,AC016724,AF216693,AJ271338,AY972853,BN000002,CH471217,AF186094,AF201830,AF230377,AJ242737,AJ242738,AK002125,AK290249,AY359117,BC000945,BC024747,CR613851 NP_775262,NP_036407,AAY14990,AAF76981,CAB67704,AAX59031,CAD29877,EAW73617,EAW73618,AAF02757,AAF25210,AAF91274,CAB59822,CAB59823,BAF82938,AAQ89475,AAH24747,Q9UBH0,ABM81628,ABM84812 Hs.516301 GDB:11510068 FIL1|FIL1(DELTA)|FIL1D|IL1HY1|IL1L1|IL1RP3|MGC29840 protein-coding 1315732 IL1F6 interleukin 1 family, member 6 (epsilon) 1580863 16777052,15815621,15489334,14734551,12477932,12110411,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10625660,18484691,17908936,10744718,10512743,9169134,8188271 27179 NM_014440,AC016724,AY944686,BN000002,CH471217,AF201831,BC107042,BC107043 NP_055255,AAY14988,AAX20113,CAD29875,EAW73614,AAF25211,AAI07043,AAI07044,Q9UHA7 Hs.278910 GDB:11510070 FIL1|FIL1(EPSILON)|FIL1E|IL-1F6|IL1(EPSILON)|MGC129552|MGC129553 protein-coding 1346334 IL1F7 interleukin 1 family, member 7 (zeta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 10625660,10744718,18484691,15815621,15527767,15489334,12496389,12477932,12381835,12096920,11991723,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10512743,9169134,8188271 27178 NM_014439,NM_173204,NM_173202,NM_173203,NM_173205,AC079753,AY973625,BN000002,CH471217,AF167368,AF200496,AF201832,AF251118,AF251119,AF251120,AY071840,AY071841,BC020637 NP_055254,NP_775296,NP_775294,NP_775295,NP_775297,AAX88889,AAX59036,CAD29873,EAW73608,EAW73609,EAW73610,EAW73611,EAW73612,AAG29344,AAF69252,AAF25212,AAG14420,AAG14421,AAG14422,AAL67151,AAL67154,AAH20637,Q7RU00,Q9NZH6,ABM82314 Hs.166371 GDB:11510072 FIL1|FIL1(ZETA)|FIL1Z|IL-1F7|IL-1H4|IL-1RP1|IL1H4|IL1RP1 protein-coding 1317278 IL1F8 interleukin 1 family, member 8 (eta) The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 10744718,18484691,16646978,15815621,14734551,12477932,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10625660,10512743,9169134,8188271 27177 NM_014438,NM_173178,AC016724,BN000002,CH471217,DQ224343,AF200494,AF201833,BC101831,BC101833,CA441070 NP_055253,NP_775270,AAY14989,CAD29876,EAW73615,EAW73616,ABA60896,AAF69250,AAF25213,AAI01832,AAI01834,Q3MIH0,Q9NZH7 Hs.278909 GDB:11510074 FIL1|FIL1-(ETA)|FIL1H|IL-1F8|IL-1H2|IL1-ETA|IL1H2|MGC126880|MGC126882 protein-coding 1351778 IL1F9 interleukin 1 family, member 9 The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. 1580863 10744718,18484691,15815621,15701729,15489334,15331687,14734551,12975309,12477932,11991723,11991722,11574262,11466363,11278614,11145836,11093146,10860666,10625660,10512743,9169134,8188271 56300 NM_019618,AC016724,AY968311,BN000002,CH471217,AF200492,AF206696,AY359111,BC096721,BC098130,BC098155,BC098337 NP_062564,AAY14987,AAX59035,CAD29874,EAW73613,AAF69248,AAG35670,AAQ89469,AAH96721,AAH98130,AAH98155,AAH98337,Q9NZH8 Hs.211238 GDB:11510076 IL-1F9|IL-1H1|IL-1RP2|IL1E|IL1H1|IL1RP2 protein-coding 735430 IL1R1 interleukin 1 receptor, type I The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein is a receptor for interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA). It is an important mediator involved in many cytokine induced immune and inflammatory responses. This gene along with interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 2 (IL1RL2), and interleukin 1 receptor-like 1 (IL1RL1) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. 1580863 17517439,17480058,17477815,17413037,17324958,17257312,17083033,16938461,16937503,16911713,16764598,16734562,16573560,16564702,16354686,16323614,16305343,16301860,16258158,16100774,15919456,15866876,15797878,15789892,15723707,15653174,15489334,15481335,15472211,15388348,15375600,15361128,15190266,15188516,15170937,14872281,14758530,14735144,14734209,14680589,14644395,14563376,14557872,12925853,12890860,12804791,12752101,12729621,12659850,12595908,12558814,12477932,12477576,12472674,12425801,12424621,12412204,12363051,12240899,12212456,12164325,12145738,12138282,12136897,12133437,12095061,12082592,12077269,12038885,12028539,11956022,11851889,11849463,11846196,11838837,11820460,11790645,11762793,11752505,11742191,11665666,11641511,11578018,11527622,11508575,11506478,11427627,11390630,11380940,11380474,11278614,11233912,11220627,11197691,11127457,11083263,11040178,10903327,10854325,10373529,10191101,9374458,9371760,9360994,7818827,2946959,2532321,2521881,1833184,1672292,17584583,9120302,9062193,9062194,12721283,16286467,2530587,18322311,18052726,17889143,17688691,17627763,17622942,17607501 3554 AF531102,NM_000877,AC007271,CH471127,AK026803,BC067506,BC067507,BC067508,BC075062,BC075063,CR595183,CR621155,M27492,X16896 AAX81988,NP_000868,AAM88423,EAX01799,AAH67506,AAH67507,AAH67508,AAH75062,AAH75063,AAA59137,CAA34773,P14778,Q587I7,Q6NWP5,Q6NWP6 Hs.701982 GDB:125254 CD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80 protein-coding 1352690 IL1R2 interleukin 1 receptor, type II The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Two alternatively spliced transcript variants encoding the same protein have been reported. 1580863 8898719,18315432,18096476,17702847,17517439,17482186,17413037,17324958,17307738,16971486,16596202,15815621,15705625,15653174,15489334,14674121,12794127,12530978,12477932,12377932,12372465,12363051,12356774,11846196,11804955,11520075,11023264,10210771,10191101,9862719,9417814,9168406,9166705,9159157,8985204,8894439,8786316,8702856,8698397,8634411,8332913,8294881,7989776,7963543,7878046,7564267,1834697,1834644,1833184 7850 NM_004633,NM_173343,AC005035,AC007165,AY124010,CH471127,CS068590,AK130412,BC012346,BC027733,BC039031,CR616861,U64094,U74649,X59770 NP_004624,NP_775465,AAK52072,AAM64221,EAX01800,EAX01801,EAX01802,EAX01803,CAI84626,AAH27733,AAH39031,AAB05878,AAD00242,CAA42441,P27930,Q6LCE6,Q6PIW7 Hs.25333 GDB:134717 CD121b|IL1RB|MGC47725 protein-coding 732294 IL1RAP interleukin 1 receptor accessory protein Interleukin 1 induces synthesis of acute phase and proinflammatory proteins during infection, tissue damage, or stress, by forming a complex at the cell membrane with an interleukin 1 receptor and an accessory protein. This gene encodes an interleukin 1 receptor accessory protein. Alternative splicing of this gene results in two transcript variants encoding two different isoforms, one membrane-bound and one soluble. 1580863 12721283,9065432,7775431,18299313,18156980,17949817,17889143,17507369,16519819,15849357,15528363,15489334,15231748,14734551,14702039,12781872,12659850,12530978,12483539,12477932,12393699,11880380,11416133,11279295,10854325,10799889,10373529,9923604,9862719,9820540,9479509,9371760,8626725 3556 NM_002182,NM_134470,AC008249,AC108747,AF016261,AF167340,AF167342,CH471052,AB006537,AF029213,AF167343,AF487335,AF538730,AF538731,AF538732,AF538733,AF538734,AK095107,AK291669,BC016141,BC053621,CR591396,EF591790 NP_002173,NP_608273,AAC39609,AAF71688,AAF71689,EAW78100,EAW78101,EAW78102,EAW78103,BAA25421,AAB84059,AAF71687,AAO49451,AAQ01755,AAQ01756,AAQ01757,AAQ01758,AAQ01759,BAC04487,BAF84358,AAH53621,ABU90811,Q8N9C1,Q9NPH3 Hs.478673 GDB:9032970 C3orf13|FLJ37788|IL-1RAcP|IL1R3 protein-coding 735979 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities. 1302409,1601578,1580863 10471494,18467032,18253029,16470793,15300857,15123616,12783849,12777533,12477932,11076863,10882729,10757639,8964912,8826442,8230164 1302409,1601578 11141 AB101891,AB101892,AB101893,AB101894,AB101895,AB101896,AB101897,AB101898,AB101899,AB101900,AB101901,AB101902,AB101903,AB101904,AB101905,AB101906,AB101907,AB101908,AB101909,AB101910,AC002367,AC003659,AC005748,AC112495,AC121343,AC121344,AC129851,AC129852,AC134149,AL008710,AL031368,NM_014271,AL031466,AL031575,AL031803,AL049178,CH471074,AB102650,AF181284,AF284435,AJ243874,BC126345,BC126347,DN994486 NP_055086,BAC80450,BAC80451,BAC80452,BAC80453,BAC80454,BAC80455,BAC80456,BAC80457,BAC80458,BAC80459,BAC80460,BAC80461,BAC80462,BAC80463,BAC80464,BAC80465,BAC80466,BAC80467,BAC80468,BAC80469,EAW99046,BAC81119,AAF59411,AAG21369,CAB56046,AAI26346,AAI26348,Q7Z2H0,Q7Z2K4,Q9NZN1,AAI11919 Hs.658912 GDB:9956923 IL1R8|IL1RAPL|MRX21|MRX34|OPHN4|TIGIRR-2 protein-coding 1349606 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. 1580863 10757639,17265504,16596202,12477932,11587848,11031108,10882729,7959766 26280 AL008642,AL021812,AL022168,AL050401,AL121866,AL133272,AL133276,AL133381,AL391070,AL391071,AL442225,AL512445,CH471120,Z68328,Z68330,Z68908,Z69721,Z74619,Z81144,AF181285,NM_017416,AF212016,AF284436,AJ272208,AJ290436,AK290196,BC104784,BC104786 NP_059112,EAX02752,AAF59412,AAF61307,AAG21370,CAB86868,CAB89867,BAF82885,AAI04785,AAI04787,Q5H9L9,Q9NP60 Hs.675519 GDB:10796481 IL-1R9|IL1R9|IL1RAPL-2|TIGIRR-1 protein-coding 736158 IL1RL1 interleukin 1 receptor-like 1 The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. 1580863 16286016,1482686,18375488,18226917,17623648,16426569,16381901,16118232,15815621,15489336,15489334,15481335,15340161,15063762,15004556,14991091,14759258,12665801,12578875,12492487,12477932,12368275,12355452,11531955,11478810,11359817,11076863,10936050,10527832,10491084,10191101,9811530,9794420,9618516,9207179,9058198,8621446 9173 NM_003856,AB022176,AC007248,CH471127,D12764,AB012701,AB029084,AK291578,BC012580,BC030975,D12763,NM_016232 NP_057316,NP_003847,AAY15047,EAX01795,BAA20539,BAA82405,BAA85894,BAF84267,AAH30975,BAA02233,Q01638,Q0JUJ7,CAL37814 Hs.66 GDB:9958914 DER4|FIT-1|MGC32623|ST2|ST2L|ST2V|T1 protein-coding 1353187 IL1RL2 interleukin 1 receptor-like 2 The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. 729063,1580863 8332913,1833184,16546408,12477932,11466363,10882729,10191101,9325300,8898719 729063 8808 NM_003854,AC007248,AC007271,CH471127,DQ131903,AF284434,BC107064,U49065 NP_003845,AAY15046,AAX81989,EAX01798,AAZ38712,AAG21368,AAI07065,AAB53237,Q9HB29 Hs.659863 GDB:9957277 IL1R-rp2|IL1RRP2 protein-coding 1344540 IL1RN interleukin 1 receptor antagonist The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 1358741,1580863,1626666,1626667,1626674,1626672,1626673,1626680,1626668,1626664,1626665,1626677,1626671,1626679 7629520,9062194,10443688,1385987,18484691,18484169,18468936,18464913,18455629,18451331,18423886,18416755,18396210,18389618,18385937,18364273,18361937,18354254,18333945,18332090,18322311,18321309,18299273,18288454,18288276,18278133,18272394,18271063,18243027,18239554,18186699,18180150,18165865,18086767,18069935,18063673,18052726,18052703,18047563,18038187,18008080,17993728,17964974,17963170,17959519,17948066,17926179,17907045,17903994,17900737,17899305,17867984,17847930,17846855,17760842,17716546,17656565,17645476,17640324,17627763,17618436,17611673,17611547,17610660,17607547,17607501,17596285,17593860,17592300,17584583,17572155,17548705,17532232,17483707,17482260,17459217,17454884,17453104,17448214,17446060,17444864,17444587,17443229,17413037,17391700,17388919,17380888,17373677,17359523,17351514,17335371,17332449,17327408,17324969,17314118,17309751,17295877,17292896,17290743,17286233,17258699,17257312,17256873,17235630,17224277,17222831,17207379,17182583,17177339,17176440,17174563,17115419,17114844,17113632,17107994,17096351,17083033,17074546,17069782,17068065,17035400,17034724,17026469,17005410,17002905,16985030,16984283,16980335,16938461,16937503,16921503,16911569,16907768,16906455,16905295,16900886,16886894,16885604,16879054,16873708,17348243,16842617,16839849,16824064,16820919,16820326,16817913,16815316,16804398,16777324,16769128,16766392,16764598,16764597,16741227,16734562,16699452,16698387,16638698,16637265,16636119,16635751,16635219,16596202,16595248,16856121,16573560,16553947,16550552,16549749,16540751,16538639,16519819,16510430,16456536,16454826,16436009,16423338,16414081,16409203,16405550,16403098,16389181,16369899,16362796,16361815,16361275,16335952,16319982,16318998,16301842,16284379,16284368,16579840,16268484,16246569,16244470,16226351,16217062,16202742,16200608,16195370,16183821,16174285,16172101,16164697,16159520,16142351,16128937,16126303,16115908,16114018,16109659,16106254,16100774,16098232,16096333,16088107,16078996,16053468,16043936,16026159,16025481,16019233,16019127,15986200,15954918,15943888,15931231,15927855,15923123,15900570,15885804,15884119,15878285,15866604,15851404,15836820,15830637,15803022,15800325,15797878,15766560,15733644,15730917,15727567,15723707,15717635,16263000,15704154,15694997,15679582,15672946,15670034,15644653,15610073,15602586,15579481,15574426,15570075,15566952,15562761,15551344,15540224,15539764,15535834,15530901,15512788,15507961,15507960,15489334,15485792,15476179,15457475,15379752,15339690,15338333,15325407,15318032,15292002,15305821,15286433,15270852,15266130,15250242,15247172,15241561,15236174,15235132,15233701,15231136,15223609,15205567,15201366,15190266,15188516,15184943,15181037,15171792,15170937,15144571,15141093,15127646,15082121,15077300,15056081,15036607,15036245,15030461,15020290,14997019,14986816,14984963,14982742,14758530,14753487,14750640,14735144,14734209,14673228,14672899,14669220,14664464,14657427,14656692,14652282,14647192,14644395,14634582,14634579,14633943,14632761,14611908,14586324,14585879,14568678,14566095,14533660,14522096,14521725,14514232,14504049,12958619,12938145,12930389,12919285,12913327,12901853,12891537,12854083,12847695,12828754,12824054,12820354,12801479,12794527,12788304,12775358,12768436,12764021,12746914,12746420,12730860,12730545,12729191,12722027,12718576,12714264,12694213,12686792,12679428,12667286,12667023,12645941,12626603,12624309,12618859,12609525,12595908,12593203,12578333,12568735,12551827,12547728,12530098,12519748,12496176,12477932,12472674,12468823,12454835,12453918,12452470,12445604,12445219,12441323,12355453,12240899,12239970,12220547,12165808,12161099,12161036,12160520,12140751,12136897,12133467,12115182,12115161,12114904,12111633,12105837,12102486,12095061,12082592,12082590,12070246,12044341,11991722,11876758,11876744,11858187,11846196,11841553,11841485,11840488,11816697,11803448,11802774,11793861,11784248,11770040,11762793,11686217,11665981,11641511,11640949,11606496,11606494,11600466,11574262,11531943,11466363,11448121,11423389,12164325,2147937,2143761,2139180,2137201,2137200,1834644,1828896,1827201,1534997,1479000,1386337,16189514,11278614,11247888,11233912,11171832,11145836,11138328,11127488,11093146,11045853,11033452,11027520,11023482,10988299,10948677,10860666,10786823,10744718,10673296,10625660,10512743,9933103,9710237,9597123,9514884,9169134,8992991,8852605,8726668,8432529,8188271,8175703,8045306,7867645 1358741,1626666,1626667,1626674,1626672,1626673,1626680,1626668,1626664,1626665,1626677,1626679 3557 NM_173841,NM_173843,NM_000577,NM_173842,A49726,A50144,AC024704,AF057168,AY196903,BN000002,CH471217,M63099,U65590,X64532,AF043143,AJ005835,AK290898,AK290926,BC009745,BC068441,BI766516,CR605915,CR606622,CR616671,CR619093,CR625646,M55646,X52015,X53296,X84348 NP_776213,NP_776215,NP_000568,NP_776214,CAA03191,CAA03210,AAX93278,AAC13499,AAN87150,CAD29879,EAW73621,EAW73622,EAW73623,EAW73624,EAW73625,AAB41943,AAB92268,AAB92269,AAB92270,CAA45832,AAC39672,CAA06730,BAF83587,BAF83615,AAH09745,AAA59138,CAA36262,CAA37386,CAA59087,P18510,Q53SC2,Q9UP87,ABM83492,ABM86707 Hs.81134 GDB:125897 ICIL-1RA|IL-1ra3|IL1F3|IL1RA|IRAP|MGC10430 protein-coding 730858 IL2 interleukin 2 The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. 1600060 17889143,17761346,17728221,17714919,17651815,17627763,17592174,17571248,17558408,17541281,17537734,17460561,17457216,17444587,17439892,17396252,17355643,17337059,17336597,17327408,17257312,17237447,17222831,17215524,17203290,17175263,17152005,17142786,17115417,17110377,17097050,17077180,17052299,17002904,16984280,16966412,16961803,16938461,16920920,16889932,16885196,16864906,16864905,16824159,16805135,16783532,16764598,16734562,16690518,16678358,16621991,16606671,16584887,16573560,16567828,16518704,16478922,16477002,16389181,16361891,16333313,16323127,16293754,16293250,16169852,12687247,12646760,12633940,12610796,12604780,12582206,12557940,12542496,12536241,12504009,12486027,12480696,12477932,12464620,12456594,12409183,12393431,12392859,12358847,12354383,12354082,12200381,12193716,12176041,12171778,12162871,12144536,12105273,12089714,12072494,12055219,11981437,11940709,11914641,11911478,11841848,11826762,11743717,11714800,11689614,11544437,11525806,11385624,11354638,11315919,11261789,11254713,11114167,11093171,11035066,10929056,10662798,10570282,10207088,10201969,9811677,9517986,9516115,9334723,9311917,9209269,9187267,9065434,9045614,8824916,8757311,8402910,8207793,8183373,8118889,8095514,8049354,7999066,7983746,7963560,7734194,7722480,7695626,7591871,7529123,6608729,6403867,6333684,6330695,6324170,6321163,6318318,6312994,6306584,6201860,3925347,3877307,3500515,12121273,16164695,16148026,16132828,16125242,16100774,16091861,16060678,15976176,15964333,15951664,15910743,15904474,15895884,15841456,15841182,15814282,15749888,15733644,15728489,15710467,15686714,15676209,15563472,15562014,15539078,15514847,15489334,15458467,15361128,15353479,15347678,15339934,15271977,15259063,15247007,15238074,15191519,15187164,15170937,15152368,15120188,15104679,15100259,15057902,15005726,15001467,14975604,14722108,14715519,14707112,14688528,14687725,14680494,14675394,14607929,14607923,14566095,14522096,14499500,12960316,12944981,12884288,12864971,12851716,12826231,12826155,12816983,12808095,12759392,12727483,12727482,12717025,8476561,18275276,18271063,18239807,18209044,18192685,18174230,18165865,18097023,18077789,18073500,18023521,18021981,18021367,17994425,17985312,17981806,17981641,17956522,17949552,17913045,17900510,3491296,3265909,3264184,3262520,3260003,2793860,2342538,2109157,1993646,1631562,1510960,1396583,1394441,1316918,9534962,1832084,16393999,12605694,7697734,1905933,8706326,2842093,7957556,17177332,11350667,9007200,2315327,1888898,1346976,2552026,9226175,10985305,10618429,8769094,7589092,9712080,9045910,7642615,7523014,2052609,1527859,10196292,15638726,8765022,8598486,8102828,16354571,10393966,2303462,15175153 1600060 3558 NM_000586,AC022489,AF031845,AF359939,CH471056,CQ847559,J00264,K02056,M13879,M22005,M33199,X00695,X61155,AF228636,AF532913,AY283686,AY523040,BC066254,BC066255,BC066256,BC066257,BC070338,DQ231169,DQ861285,S77834,S77835,S82692,U25676,V00564,X01586,A14844 NP_000577,AAB86861,AAK26665,EAX05227,CAH18032,AAD48509,AAA98792,AAA59141,AAA59140,AAA59139,CAA25292,AAG53575,AAM97916,AAP35033,AAS17753,AAH66254,AAH66255,AAH66256,AAH66257,AAH70338,ABB20900,ABI20697,AAD14263,AAD14264,AAB46883,AAA70092,CAA23827,CAA25742,P60568,Q0GK43,Q13169,Q16334,Q309Q7,Q6NZ91,Q6NZ93,Q6QWN0,Q71V48,Q7Z7M3,Q8NFA4,Q9C001,CAA01199 Hs.89679 GDB:119344 IL-2|TCGF|lymphokine protein-coding 1353403 IL20 interleukin 20 The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. 1580863 11470428,18479293,18061474,17465720,17263806,17255956,17083366,16908179,16778121,16709143,16645593,16511554,15950941,15815689,15489334,15340161,14675174,14580208,12975309,12855566,12667095,12477932,12351624,12023331,11163236,15857508 50604 NM_018724,AC098935,AF402002,CH471100,AF224266,AY358320,AY876922,BC069311,BC069364,BC069398,BC069425,BC069449,BC069487,BC069523,BC069559,BC074948,BC074949,BC117386,BC117390 NP_061194,AAK84423,EAW93520,EAW93521,AAF36679,AAQ88686,AAW78348,AAH69311,AAH69364,AAH69398,AAH69425,AAH69449,AAH69487,AAH69523,AAH69559,AAH74948,AAH74949,AAI17387,AAI17391,Q2THG6,Q9NYY1 Hs.272373 GDB:10794768 IL-20|IL10D|MGC96907|ZCYTO10 protein-coding 1316471 IL20RA interleukin 20 receptor, alpha The protein encoded by this gene is a receptor for interleukin 20 (IL20), a cytokine that may be involved in epidermal function. The receptor of IL20 is a heterodimeric receptor complex consisting of this protein and interleukin 20 receptor beta (IL20B). This gene and IL20B are highly expressed in skin. The expression of both genes is found to be upregulated in Psoriasis. 1580863 18480827,15340161,15178681,14764663,14702039,14580208,14574404,12975309,12477932,12351624,11706020,11564763,11163236,10875937,8889548 53832 NM_014432,AL135902,CH471051,AF184971,AJ420490,AK098312,AY358883,BC113574,BC113602,BM713319 NP_055247,CAC38375,CAC38376,EAW47936,EAW47937,EAW47938,AAF01320,AAQ89242,AAI13575,AAI13603,Q14CW2,Q9UHF4 Hs.445868 GDB:10794770 FLJ40993|IL-20R1|ZCYTOR7 protein-coding 1349896 IL20RB interleukin 20 receptor beta 18480827,16703417,15489334,15340161,14580208,12975309,12477932,12351624,11564763,11163236 53833 NM_144717,AC011597,CH471052,CS109193,CS110198,CS253333,AY358305,BC027449,BC033292,BC063696,CR590848,CR604488 NP_653318,EAW79104,CAJ09895,CAJ09909,CAJ65781,AAQ88672,AAH33292,AAH63696,Q6UXL0,Q8IYY5 Hs.61232 GDB:10794794 DIRS1|FNDC6|IL-20R2|MGC34923 protein-coding 1316553 IL21 interleukin 21 1580863 12504082,14635054,15207081,15765404,11081504,18222514,18209077,18056361,17947662,17938255,17921346,17888893,17785794,17720724,17713571,17712836,17698559,17673207,17672918,17624663,17565991,17558408,17509926,17462506,17442980,17241869,17178921,17142735,17130531,17015709,17015683,16551679,16424177,16406655,16339522,16138102,16081794,16002671,15919378,15684054,15494482,15489334,15178704,15147560,15100251,12893770,12759422,12477932,12244150,11418623,11267886,8626603 59067 NM_021803,AC053545,AY763518,CH471056,CS080568,CS237090,AF254069,BC066258,BC066259,BC066260,BC066261,BC066262,BC069124,DQ645417 NP_068575,AAU88182,EAX05226,CAI94500,CAJ47524,AAG29348,AAH66258,AAH66259,AAH66260,AAH66261,AAH66262,AAH69124,ABG36529,Q9HBE4 Hs.567559 GDB:10796185 IL-21|Za11 protein-coding 1312687 IL21R interleukin 21 receptor The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants encoding the same protein have been described. 1600111,1580863 11081504,17624663,17462506,17032244,17015683,16867043,16391014,16260592,15751077,15489334,15340161,15146416,12975309,12700598,12477932,11418623,11016959,7566098 1600111 50615 NM_181078,NM_181079,NM_021798,AC002303,AC004525,AY064474,CH471145,CS080576,AA354979,AF254067,AF269133,AK292663,AY358826,BC004348,BC007946,BQ215949,BX401767 NP_851564,NP_851565,NP_068570,AAL39168,EAW55746,EAW55747,EAW55748,EAW55749,CAI94502,AAG29346,AAG23419,BAF85352,AAQ89185,AAH04348,AAH07946,Q9HBE5,ABM87726,ABW03862 Hs.210546 GDB:10796187 MGC10967|NILR protein-coding 1344987 IL22 interleukin 22 1580863 10875937,11481447,10954742,18264110,17845543,17442982,17204547,17182579,16537974,16143135,15765404,15489334,15340161,15122762,15039135,12975309,12477932,12176383,12087100,11856845,11390453,11197690,11035029,10657629 50616 AC007458,AC022511,AF387519,AJ277248,CH471054,CQ889879,CQ889941,AF279437,AJ277247,AY358890,BC066263,BC066264,BC066265,NM_020525,BC066266,BC067509,BC067510,BC069112,BC069308,BC070261,CD559617 NP_065386,AAK62468,CAC19409,EAW97182,CAH61624,CAH61629,AAG22064,CAC06085,AAQ89249,AAH66263,AAH66264,AAH66265,AAH67509,AAH67510,AAH69112,AAH69308,AAH70261,Q6NWP4,Q6NZ83,Q6NZ84,Q9GZX6 Hs.287369 GDB:11500527 IL-21|IL-22|IL-D110|IL-TIF|IL21|ILTIF|MGC79382|MGC79384|TIFIL-23|TIFa|zcyto18 protein-coding 1352751 IL22RA1 interleukin 22 receptor, alpha 1 The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. 17906500,12477932,11035029,10875937,9373149,8125298 58985 NM_021258,AL590683,AL591178,CH471134,AF286095,AK226001,AK292204,BC014096,BC029273 NP_067081,CAH72088,EAW95111,AAG22073,BAF84893,AAH29273,Q8N6P7 Hs.110915 CRF2-9|IL22R|IL22R1 protein-coding 1322028 IL22RA2 interleukin 22 receptor, alpha 2 The protein encoded by this gene is a soluble class II cytokine receptor. This protein has been shown to specifically bind to interleukin 22 (IL22), block the interaction of IL22 with its cell surface receptor, and thus inhibit IL22 activity. This protein functions as an IL22 antagonist, and may be important in the regulation of inflammatory response. Three alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 11390454,11390453,15340161,15201862,14574404,12975309,12700595,11607789,11481447 116379 AY358111,AY358737,BC125167,BC125168,NM_181309,NM_052962,AL050337,AY779023,CH471051,CQ889886,CQ889948,AI824338,AJ297262,AJ313161,AJ313162,AY040566,AY040567,AY040568,AY044429,NM_181310 AAQ88478,AAQ89097,AAI25168,AAI25169,Q08AH7,Q969J5,NP_851827,NP_851826,NP_443194,CAI21589,CAI21590,CAI21591,AAV31775,EAW47933,EAW47934,EAW47935,CAH61626,CAH61631,CAC83097,CAC85634,CAC85635,AAK85714,AAK85715,AAK85716,AAK91775 Hs.126891 CRF2-10|CRF2-S1|CRF2X|IL-22BP|MGC150509|MGC150510 protein-coding 731906 IL23A interleukin 23, alpha subunit p19 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. 18408745,18311793,18180107,18054783,17945537,17763202,17606463,17564777,17236132,17187052,17182554,17021762,17007011,16772281,16751425,16688182,16670765,16424222,16342235,16339539,16300465,15731058,15583831,15489334,15486065,15114670,15070757,14707118,12975309,12847224,12671732,12525561,12477932,12421946,12162874,12023369,11390512,11114383,8570611 51561 NM_016584,AB030001,AC025574,CH471054,AB030000,AF301620,AJ506993,AY359083,BC066267,BC066268,BC066269,BC067511,BC067512,BC067513,BM851337,U38443 NP_057668,BAA93687,EAW96933,BAA93686,AAG37232,CAD45088,AAQ89442,AAH66267,AAH66268,AAH66269,AAH67511,AAH67512,AAH67513,Q9NPF7 Hs.98309,Hs.654496 GDB:11500531 IL-23|IL-23A|IL23P19|MGC79388|P19|SGRF protein-coding 1351657 IL23R interleukin 23 receptor The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. 18470928,18438406,18383521,18383363,18383179,18369459,18368064,18338763,18219280,18209723,18200510,18199597,18180107,18172351,18166373,18164077,18162085,18088064,18082575,18075513,18073300,18034172,18030204,18022867,17993580,17952073,17901940,17894849,17877509,17854611,17804789,17786191,17678845,17678723,17661912,17618837,17606463,17587057,17534574,17508420,17484863,17447842,17435756,17337463,17309073,17236132,17068223,16710414,16372191,15489334,12477932,12023369 149233 AL109843,AL389925,CH471059,AF461422,AY937250,AY937251,AY937252,AY937253,AY937254,AY937255,BC016829,BC040720,BC142955,NM_144701 NP_653302,CAH70406,CAH70408,EAX06501,EAX06502,AAM44229,AAY18345,AAY18346,AAY18347,AAY18348,AAY18349,AAY18350,AAH16829,AAH40720,Q5VWK5,AAI66698 Hs.677426 protein-coding 1605405 IL24 interleukin 24 This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 9826712,18281516,18281515,18061474,18025283,17828282,17627414,17305874,17263806,17178890,17178884,17083366,16912197,16264231,15851011,15815689,15709189,15580305,15564140,15489334,15383566,15340161,15334067,15304100,15273727,12907144,12907143,12811827,12606943,12533668,12485618,12477932,12395925,12351624,12182458,12114539,12085234,12055212,11844832,11706020,11704829,11163236,10942517,8799171,8545104 11009 NM_006850,NM_181339,AC098935,AF217405,AF235005,AF276916,AY062931,CH471100,CS284546,AI521306,AW949784,AY237723,AY641440,AY641441,BC009681,BT007156,CR601530,U16261 NP_006841,NP_851936,AAK52589,AAG41401,AAL34146,EAW93518,EAW93519,CAJ98561,AAO67513,AAV52800,AAV52801,AAH09681,AAP35820,AAA91780,Q13007,Q2YHE5,Q2YHE6,Q53XZ7,Q5YLN8,ABM81582,ABM81583,ABM84762,ABM84769 Hs.58831,Hs.709904 GDB:9956128 C49A|FISP|IL-24|IL10B|MDA7|Mob-5|ST16|mda-7 protein-coding 1344819 IL25 interleukin 25 The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. This cytokine can induce NF-kappaB activation, and stimulate the production of IL8. Both this cytokine and IL17B are ligands for the cytokine receptor IL17BR. Studies of the similar gene in mice suggested that this cytokine may be a proinflammatory cytokine favoring Th2-type immune response. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863 11058597,17889290,17719653,17635955,16950278,16522458,15489334,15340161,12975309,12477932,12239140,11754819,11714825 64806 NM_022789,NM_172314,AL049829,CH471078,AF305200,AF458059,AF461739,AY359127,BC069565,BC104929,BC104931 NP_073626,NP_758525,EAW66161,EAW66162,AAG40848,AAL57622,AAN39038,AAQ89484,AAH69565,AAI04930,AAI04932,Q2M3F0,Q9H293 Hs.302036 GDB:11500526 IL-17E|IL-25|IL17E protein-coding 1346180 IL26 interleukin 26 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. 1580863 10729163,18332247,15489334,15178681,14764663,14558082,12477932,11528524,11197690 55801 NM_018402,AC007458,AJ251550,AJ251551,AY509906,CH471054,AJ251549,BC066270,BC066271 NP_060872,CAB77049,AAR87776,EAW97181,CAB76942,AAH66270,AAH66271,Q9NPH9 Hs.272350 GDB:11504509 AK155|IL-26 protein-coding 1343577 IL27 interleukin 27 The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). 1580863 15793300,12734330,18191724,18178151,17985330,17318299,17068156,16751375,16670765,14764690,14657353,12477932,12121660 246778 NM_145659,AC138894,CH471279,EF064720,AY099296,BC062422 NP_663634,EAW52277,ABK41903,AAM34498,AAH62422,Q8NEV9 Hs.528111 IL-27|IL27p28|IL30|MGC71873|p28 protein-coding 1312815 IL27RA interleukin 27 receptor, alpha In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. 9600072,18003935,15489334,14764690,12975309,12734330,12477932,12121660,11057672,16189514 9466 NM_004843,AC022098,CH471106,EF064719,AF053004,AF106912,AF265242,AI983115,AW298502,AY358876,BC028003 NP_004834,EAW84389,EAW84390,ABK41902,AAC39755,AAG26090,AAG27297,AAQ89235,AAH28003,Q6UWB1,ABM81977,ABM85156 Hs.132781 CRL1|IL27R|TCCR|WSX1|zcytor1 protein-coding 1351993 IL28A interleukin 28A (interferon, lambda 2) This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). 1580863 17367910,16539846,16478884,16413080,16146571,16051921,15899585,15850793,12483210,12477932,12469119 282616 NM_172138,AC011445,CH471126,CS055921,CS183953,DQ126336,AY129148,AY184373,AY336715,BC113581,BC113583,DQ126337 NP_742150,EAW56870,CAI75182,CAJ41835,AAZ38827,AAN28263,AAN86126,AAR24510,AAI13582,AAI13584,AAZ38828,Q45KQ8,Q8IZJ0 Hs.567792 IFNL2|IL-28A protein-coding 1348657 IL28B interleukin 28B (interferon, lambda 3) This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). 1580863 16539846,16478884,16413080,12483210,12477932,12469119 282617 NM_172139,AC011445,CH471126,AY129149,AY184374,AY336714,AY336717,BC130314,BC130316 NP_742151,EAW56869,AAN28264,AAN86127,AAR24509,AAQ01561,AAI30315,AAI30317,Q8IZI9 Hs.406744 IFNL3|IL-28B|IL28C protein-coding 1603554 IL28RA interleukin 28 receptor, alpha (interferon, lambda receptor) The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. 12483210,12469119,16819289,15231747,15166220,14702039,12521379,12477932,1248321 163702 NM_170743,NM_173064,AL590683,CH471134,CS183947,AF439325,AJ534330,AJ534331,AK160364,AY129151,NM_173065,AY129152,AY129153,BC101407,BC101408,BC101975,BC139722 NP_775088,NP_734464,NP_775087,CAH70117,CAH70118,CAH70119,CAH70120,CAH70121,EAW95113,EAW95114,EAW95115,EAW95116,EAW95117,EAW95118,CAJ41832,AAN63632,CAD58829,CAD58830,BAD18707,AAN28266,AAN28267,AAN28268,AAI01409,AAI01976,AAI39723,Q3MIC3,Q3ZCM1,Q5VTX5,Q5VTX7,Q5VTX8,Q5VTX9,Q8IU57,Q8IV66 Hs.221375 CRF2/12|IFNLR|IFNLR1|IL-28R1|LICR2 protein-coding 1347142 IL29 interleukin 29 (interferon, lambda 1) This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 28B (IL28B) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). 1580863 12469119,16014923,15166220,15899585,12483210,17367910,17252004,17082759,16539846,16478884,16051921,15850793,15489334,12477932 282618 NM_172140,AC011445,CH471126,CS055923,CS183955,AY129150,AY184372,AY336716,BC074985,BC117482,BC126183 NP_742152,EAW56871,CAI75183,CAJ41836,AAN28265,AAN86125,AAR24511,AAH74985,AAI17483,AAI26184,Q8IU54 Hs.406745 IFNL1|IL-29 protein-coding 735947 IL2RA interleukin 2 receptor, alpha The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. 1600117,1580863 9096364,2983318,2467293,18354419,18261176,18174382,18162781,18089681,18059223,18021968,17985312,17981806,17975141,17944116,17878392,17712998,17676041,17661330,17660530,17615291,17592174,17591854,17543960,17523134,17462597,17420929,17395754,17389235,17372588,17371467,17313446,17304105,17302593,17294624,17275508,17237241,17205058,17175221,17152005,17074352,17062437,16955142,16920911,16889540,16758122,16750991,16698664,16690518,16491350,16477002,16410445,16380476,16339919,16293754,16226465,16126178,16060678,16034095,16003241,15985167,15972448,15964425,15885081,15776395,15731180,15714205,15649306,15503821,15365604,15353339,15328201,15263076,15197226,14680494,12970897,12698200,12581498,12525482,12486319,12230826,12200381,12171778,11986281,11960393,11886175,11856346,10602027,9373149,9223324,9203962,8752938,8530186,8364583,8125298,7734194,7539755,7529123,6096720,6090949,6090948,3925551,3135323,3134887,3097520,3030566,2999698,2996141,2990220,2941417,2901720,2785715,2497520,2016116,1993646,1976256,1693645,1685671,1511461,1394441,15784911,1832084,9637477,9341758,2843775,2315327,7903128,7853525,2303462 1600117 3559 NG_007403,AL137186,AL157395,AY563103,CH471072,M11066,M15864,X03131,X03138,AF008556,AK223313,K03122,M14098,X01057,NM_000417 Q5W007,AAI52890,AAI56628,NP_000408,CAI41069,CAI41070,CAI41085,CAH73595,CAH73596,AAS55572,EAW86412,EAW86413,EAW86414,AAA67527,AAA59162,CAA26906,AAB63458,BAD97033,AAB59535,AAA59142,CAA25525,O15163,P01589,Q53FH4,Q5W006 Hs.231367 GDB:119345 CD25|IDDM10|IL2R|TCGFR interleukin 2 receptor, alpha chain protein-coding 737611 IL2RB interleukin 2 receptor, beta The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. 1580863 2467293,7736574,2785715,8514792,17152005,17108990,16477002,16380905,16293754,16284400,16084898,15489334,15461802,15350462,15191519,15063762,14680494,12960323,12676936,12477932,12230826,12200137,12133952,11886175,11856346,11750878,11463390,17115417,11238664,11133764,11035066,10825200,10602027,10591208,10514520,10373548,10214954,9774657,9553136,9520455,9176231,8700888,8648694,8483935,8294403,8049354,8026467,7973659,7734194,7693677,7641685,7600304,7529123,3925551,2333293,2047859,1973832,1915291,1639773,1557373,1394441,9637477,9341758,2843775,2315327,16189514,2303462 3560 NM_000878,AF517934,AL022314,CH471095,AW193701,BC025691,CR456506,M26062 NP_000869,AAM54040,CAA18444,EAW60144,AAH25691,CAG30392,AAA59143,P14784,CAK54535,CAK54834,ABM85025 Hs.474787 GDB:118822 CD122|P70-75 interleukin 2 receptor, beta chain protein-coding 731533 IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency) The interleukin 2 (IL2) receptor gamma chain (IL2RG), an important signalling component of many interleukin receptors (IL2,IL4,IL7,IL9, and IL15), is thus referred to as the common gamma chain. Mutations in this X-chromosome-linked gene cause X-linked severe combined immunodeficiency (XSCID). 1600009,1580863 12207328,12200137,12036606,11886175,11858939,11856346,11750878,11426455,11418669,11418623,10662798,9797872,9399950,9326644,9169421,9150740,9010926,8900089,8648694,8643566,8568232,8462096,8401490,8378320,8299698,8088810,8049354,8027558,8266076,8266078,8266077,12504082,8514792,17363735,17082603,16477002,16308569,16293754,15702055,15489334,14726805,14680494,12477932,12370829,7973658,7937790,7883965,7860773,7706294,7668284,7641685,7557965,7529123,1976256,1631559,9637477,9341758,2843775,2315327,16189514,9799097 1600009 3561 NM_000206,AL590764,AY692262,CH471132,D16358,L12183,L19546,AB102793,AB102794,AB102795,AB102797,BC014972,BC071710,CR591866,CR597140,CR599537,CR617630,CR624448,D11086 NP_000197,AAT85803,EAX05319,BAA03861,AAA59145,AAC37524,BAD89384,BAD89385,BAD89386,BAD89388,AAH14972,BAA01857,P31785,Q5FC09,Q5FC11,Q5FC12,Q5FC13,Q6LER1,ABM86377,ABW03788 Hs.84 GDB:134807 CD132|IMD4|SCIDX|SCIDX1 interleukin 2 receptor, gamma chain protein-coding 737391 IL3 interleukin 3 (colony-stimulating factor, multiple) The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. 1580863 2544122,3497400,9736740,17624239,17541278,17507237,17362254,17273755,17179997,16785501,15988318,15878977,15585837,15576295,15489334,15372320,15372022,15060062,14755254,14675189,14628073,14615378,14564341,14551608,12943658,12884288,12855588,12759409,12002675,11994280,11861295,11763346,11714768,11700046,11486081,11399510,11179015,9659156,9629242,9551928,12612065,12477932,12423306,12165512,12135758,12093816,12055233,9278420,9113989,8676386,8649415,8516290,3497843,3489530,3127463,2268499,1833064,12089333,8018916,7642615 3562 AC004511,AC034228,AF365976,CH471062,BC066272,BC066273,BC066274,BC066275,BC066276,BC069472,M14743,M17115,M20137,NM_000588 NP_000579,AAC08706,AAK38378,EAW62354,AAH66272,AAH66273,AAH66274,AAH66275,AAH66276,AAH69472,AAA59146,AAA35725,AAA59147,P08700,Q6GS87,Q6NZ78,Q6NZ79 Hs.694 GDB:120095 IL-3|MCGF|MGC79398|MGC79399|MULTI-CSF interleukin 3 protein-coding 1353267 IL31 interleukin 31 IL31, which is made principally by activated Th2-type T cells, interacts with a heterodimeric receptor consisting of IL31RA (MIM 609510) and OSMR (MIM 601743) that is constitutively expressed on epithelial cells and keratinocytes. IL31 may be involved in the promotion of allergic skin disorders and in regulating other allergic diseases, such as asthma (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM] 17900679,17487427,17030248,16461143,16461142,15925362,15184896,12477932 386653 NM_001014336,AC048338,CH471054,CS456685,AY499343,BC132998,BC133000 NP_001014358,EAW98310,CAL91842,AAS86448,AAI32999,AAI33001,Q6EBC2 Hs.569071 IL-31 protein-coding 1344882 IL31RA interleukin 31 receptor A IL31RA is related to gp130 (IL6ST; MIM 600694), the common receptor subunit for IL6 (MIM 147620)-type cytokines. Oncostatin M receptor (OSMR; MIM 601743) and IL31RA form the heterodimeric receptor through which IL31 (MIM 609509) signals. Expression of IL31RA and OSMR mRNA is induced in activated monocytes, and both mRNAs are constitutively expressed in epithelial cells (Dillon et al., 2004 [PubMed 15184896]).[supplied by OMIM] 1580863 11877449,16461143,15627637,15489334,15340161,15194700,15184896,14504285,12975309,12477932 133396 NM_139017,AC008914,CH471123,AF106913,AF486620,AY358117,AY358740,AY499339,AY499340,AY499341,AY499342,BC110490 NP_620586,EAW54930,EAW54931,EAW54932,EAW54933,EAW54934,AAL36452,AAM27958,AAQ88484,AAQ89100,AAS86444,AAS86445,AAS86446,AAS86447,AAI10491,Q8NI17 Hs.55378 CRL|CRL3|GLM-R|GLMR|GPL|IL-31RA|MGC125346|PRO21384 protein-coding 1350575 IL32 interleukin 32 This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1729377,18296636,18287021,17619821,16903774,16492735,16488976,16410314,16341674,15664165,15489334,12477932,9653642,16303761 9235 NM_001012718,NM_004221,NM_001012633,NM_001012635,NM_001012634,NM_001012632,NM_001012636,AC108134,AY495334,CH471112,CS300610,AY495331,AY495332,AY495333,BC009401,BC018782,BC105602,NM_001012631,BF568456,BG748458,BM759359,BM822755,CR609549,CR612743,CR614804,M59807,W57940 NP_001012649,NP_001012736,NP_004212,NP_001012651,NP_001012653,NP_001012652,NP_001012650,NP_001012654,AAS80146,AAS80147,AAS80148,EAW85405,EAW85406,EAW85407,EAW85408,EAW85409,EAW85410,EAW85411,EAW85412,CAK32274,AAS80143,AAS80144,AAS80145,AAH09401,AAH18782,AAI05603,AAA36367,P24001 Hs.943 IL-32alpha|IL-32beta|IL-32delta|IL-32gamma|NK4|TAIF|TAIFa|TAIFb|TAIFc|TAIFd protein-coding 1322461 IL33 interleukin 33 16286016,17853410,17700564,17675461,17623648,17185418,15489334,15164053,12819012,12477932,10566975 90865 NM_033439,AL353741,CH471071,AB024518,AL080211,AY905581,BC047085,BQ878541,CR407619 NP_254274,CAI16003,EAW58748,EAW58749,EAW58750,EAW58751,BAA75892,AAX86998,AAH47085,CAG28547,O95760 Hs.348390 C9orf26|DKFZp586H0523|DVS27|NF-HEV|NFEHEV|RP11-575C20.2 protein-coding 1348134 IL3RA interleukin 3 receptor, alpha (low affinity) The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y. 1580863 1833064,7957082,7887951,7796808,7651724,16007196,15988755,15795318,15489334,14671644,14500898,12943658,12604332,12504125,17522711,12477932,12384414,12351411,12044522,11207369,11120855,11034417,10515868,9574547,9278420,8948019,8943237,8649415,8599840,8213838,8100720 3563 NM_002183,AL683870,AY789109,BX119906,BX296563,BX901885,CH471074,D49410,AK290568,AW452270,BC035407,M74782 NP_002174,AAV40832,CAI39694,CAI39695,EAW98679,BAA08393,BAF83257,AAH35407,AAA59148,P26951,Q5HYQ7,Q5HYW8,Q9UEH7,ABW03424 Hs.632790 GDB:128985 CD123|IL3R|IL3RAY|IL3RX|IL3RY|MGC34174|hIL-3Ra protein-coding 736306 IL4 interleukin 4 The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863,1358745 18263811,18243101,18273643,18273035,18239807,18230112,18211631,18210751,18179773,18179754,18174230,18165865,18156980,18088017,18064451,18058260,18056382,18042256,18031948,18008330,17968425,17961771,17938902,17937745,17916900,17916404,17914408,17908769,17889143,17882904,17855802,17851828,17714919,17678726,17662651,17656331,17655693,17653830,17644317,17640674,17640324,17631734,17627763,17623648,17566759,17548690,17541280,17540990,17536219,17530998,17524861,17523428,17460561,17454884,17451413,17444864,17433443,17428692,17420820,17405833,17389870,17389011,17388919,17379175,17371990,17369174,17355643,17327605,17311314,17309781,17303923,17303794,17299718,17295710,17291854,17284225,17257312,17237413,17222831,17213232,17209513,17208210,17207024,17203290,17177148,17159260,17152005,17148075,17143971,17141086,17133536,17121586,17117487,17097641,17063753,17015735,17015714,17014622,17006724,16987060,16973957,11418631,8266078,11676128,10725748,11971948,11967989,18485518,18455629,18454680,18448485,18439079,18433468,18425216,18422436,18410779,18396027,18389618,18371377,18310157,18295676,18294957,16950634,16938461,16931887,16930576,16916659,16914241,16877367,16867043,16864907,16810739,16764598,16759385,16750993,16750991,16734562,16720107,16707627,16702372,16690518,16681592,16640778,16601843,16596275,16574063,16573560,16551465,16547693,16544245,16522370,16520888,16511411,16492782,16487180,16466711,16461126,16449530,16427155,16403098,16388492,16387595,16380445,16343431,16315031,16313681,16313303,16301860,16289646,16249002,16232344,16230423,16215326,16195814,16193177,16190985,16184405,16166103,16164695,16100774,16091861,16083600,16083175,16053729,16046318,16044136,16043936,16034134,16004996,16002690,16001979,15970635,15969687,15951665,15941525,15932621,15919378,15904474,15900573,15900570,15885323,15883744,15869882,15825027,15816837,15811521,15778356,15755291,15733644,15723707,15714203,15713213,15695802,15687724,15679809,15678501,15676220,15661875,15660293,15660235,15644127,15627726,15596681,15592292,15591113,15570643,15528258,15527169,15501397,15489334,15474066,15373917,15367434,15361128,15322832,15298559,15297269,15292002,15274656,15241348,15213252,15210741,15191519,15187156,15178889,15177147,14530362,14523823,14522096,14503851,14499500,12973929,12944981,12940513,12911786,12902508,12900808,12897746,12884288,12877559,12851716,12813360,12753568,12748907,12738651,12715242,12700447,12694433,12689929,12687247,12687213,15170937,15166131,15163899,15128803,15123681,15122773,15100288,15087090,15086621,15084933,15063762,15057902,15051937,15042002,15041089,15021309,15014952,15013759,15007352,15004182,15001290,14986816,14983029,14767810,14764715,14746805,14729510,14725568,14697936,14697238,14693849,14692664,14688371,14681304,14675394,14654080,14652008,14634100,14634065,14610476,14583474,14568946,14561191,14551608,12667657,12663328,12660931,12626590,12613995,12600829,12595908,12587822,12578333,12574355,12552499,12542496,12525574,12517954,12515722,12513914,12509382,12508786,12508140,12504082,12479817,12477932,12470598,12442007,12441140,12435565,12426308,12420205,12402189,12368275,12366695,12363051,12358844,12220533,12207324,12165514,12162874,12161424,12144536,12133437,12124654,12121273,12115161,12107748,12105273,12102661,12089714,12082592,12072494,12066847,12063527,12039414,12030894,12020266,11994288,11980568,11968047,11960309,11953141,11950517,11930331,11922633,11920312,11907068,11897999,11897522,11886168,11881490,11872954,11842291,11841848,11811777,11786020,11777980,11728464,11704810,11678851,11587989,11528525,11502824,11496248,11466338,11396683,11350513,11320251,11316069,11316066,11315919,11298547,11294568,11258696,11258628,11233912,11167377,11149986,11122213,11035134,11023480,10753117,10473513,10438901,10219247,9856950,9334723,9130652,9130521,9113989,8603435,8602263,8516290,8151703,7963560,7806280,7695626,7664036,3257560,3016727,2535858,1993171,1946344,1932028,1609277,1569578,1567881,1567880,1511746,1400355,1197194,16547227,17151125,15215692,10853974,10710213,10623799,8764000,1346976,7589092,7523014,16429138,16375755,9799097 1358745 3565 NM_000589,NM_172348,AC004039,AF395008,AF465829,CH471062,CS255762,M23442,X06750,AB102862,AF043336,BC066277,BC066278,BC067514,BC067515,BC070123,M13982,X81851 NP_000580,NP_758858,AAK71324,EAW62322,EAW62323,CAJ75955,AAA59150,CAA29925,BAD89396,AAC03537,AAH66277,AAH67514,AAH67515,AAH70123,AAA59149,CAA57444,P05112,Q5FC01,Q6NWP0,Q6NZ77,Q9UPB9 Hs.73917 GDB:120096 BSF1|IL-4|MGC79402 protein-coding 1312498 IL4I1 interleukin 4 induced 1 The protein encoded by this gene shares the limited similarity with L-amino acid oxidase, and contains the conserved key amino acid residues thought to be involved in catalysis and binding of the flavin adenine dinucleotide cofactor. The expression of this gene can be induced by interleukin 4 in B cells. Two alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. 1580863 17356132,16029492,15489334,15340161,12975309,12477932,12446450,12031486 259307 NM_172374,NM_152899,AC011452,AC118342,AF293463,CH471177,AF293462,AJ880386,AJ880387,AJ880388,AJ880389,AY358933,BC026103,BC064378,BC090852,BC131625,BQ672052,CR592016,CR622916,CR625444,DQ079587,DQ079588,DQ079589 NP_758962,NP_690863,AAK73363,EAW52574,EAW52575,AAK73362,CAI54291,CAI54292,CAI54293,AAQ89292,AAH64378,AAH90852,AAI31626,AAZ32711,AAZ32712,AAZ32713,Q0P6A4,Q1WMJ3,Q96RQ9 Hs.574492 GDB:11510078 FIG1 protein-coding 735615 IL4R interleukin 4 receptor This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by an alternate splice variant or by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Two transcript variants encoding different isoforms, a membrane-bound and a soluble form, have been found for this gene. 1358313,1580863 17170387,17152005,17143971,17121586,17115186,17091279,17083349,17045041,17006724,17001290,16961803,16950281,16938461,16917945,16914241,16867043,16842617,16764598,16757160,16750991,16734562,16699452,16681592,16646030,16640778,16625214,16613701,16600026,16551465,16538488,16503977,16403098,16387595,16313681,16313303,16280132,16264039,16226465,16189667,16184405,16100774,16046318,16024651,15981567,15969687,15842262,15737301,15733644,15712015,15661890,15660293,15566952,15564773,15526032,15521376,15497451,15479272,15367225,15361128,15356556,15298559,15194285,15170937,15161635,15122773,15057902,15021309,15007352,15007345,15005726,14984008,14745651,14615367,14523823,12973929,12960323,12940513,12900808,12897746,12871855,12753568,12748907,12743452,12594065,12558814,12508140,12477932,12459556,12454749,12442007,12422339,12420205,12401728,12242343,12207328,12171893,12133990,12133952,12115161,12100043,12082592,12047365,12047364,12020266,11991671,11922633,11811777,11801567,11786020,11773030,11714803,18179773,18095154,18031948,18006935,17988330,17901851,17900677,17889143,17823973,17714919,17688234,17627763,17600229,17586032,17548690,17536219,17523428,17444864,17420820,17362266,17315188,17303794,17291854,17284225,17258448,17257312,17209513,17201240,17179726,2307934,8266078,18448485,18433792,18425216,18389618,18263811,11709756,11678851,11544427,11528525,11513543,11491529,11354638,11285129,11233912,11164908,11035134,10856136,10809862,10677312,10652211,10590262,10493829,10421786,10390422,10369419,10358772,10341317,10233717,10219247,10201973,9761767,9697832,9670964,9620765,9545332,9515586,9392697,9373149,9190938,9070874,8954948,8916957,8910586,8891114,8804422,8624803,8609418,8599766,8266076,8222329,8125298,8124718,8101483,7775445,7721895,7538655,7518439,2278997,2114443,1679753,1617647,8816495 1358313 3566 NM_000418,NM_001008699,AC004525,AC106739,AF421855,AJ293647,AJ293648,AJ293649,AJ293650,AJ293651,AJ293652,AJ293653,AJ293654,CH471145,CS104810,AA838318,AK223591,BC110343,BX479288,CR616481,X52425 NP_000409,NP_001008699,AAC23495,AAL12163,CAC20445,CAC20446,CAC20447,CAC20448,CAC20449,CAC20450,CAC20451,CAC20452,EAW55750,CAJ01243,BAD97311,CAA36672,P24394,Q53EP8 Hs.513457 GDB:118823 CD124|IL4RA protein-coding 730927 IL5 interleukin 5 (colony-stimulating factor, eosinophil) The protein encoded by this gene is a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. This cytokine is a main regulator of eosinopoiesis, eosinophil maturation and activation. The elevated production of this cytokine is reported to be related to asthma or hypereosinophilic syndromes. The receptor of this cytokine is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene, together with those for interleukin 4 (IL4), interleukin 13 (IL13), and CSF2, form a cytokine gene cluster on chromosome 5. This cytokine, IL4, and IL13 are found to be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. 1580863 3024129,3498940,18273035,18206982,18056382,18028994,17845581,17690326,17623648,17620072,17620002,17581195,17362254,17015735,16922677,16879311,16596275,16556602,16449530,16243713,16236836,16036415,16001979,15964392,15951665,15935984,15845862,15842590,15826950,15826943,15805995,15802551,15713213,15549733,15534922,15528381,15489334,15367434,15271374,15155645,15007355,14634065,14630612,17517104,14581138,14564341,12915771,12910312,12851716,12771545,12759409,12581193,12575459,12534990,12525574,12477932,12444155,12393708,12366695,12354764,12202242,12097386,11897983,11877300,11842300,11830476,11763346,11101310,10973484,10880230,10753117,10417272,9136909,8892648,8483502,8438156,8419187,7721873,7534492,2824500,2823259,2563351,2361960,2037074,1833065,1732409,1698795,15735688,1495999 3567 NM_000879,AC116366,AF353265,CH471062,J02971,J03478,X12706,BC066279,BC066280,BC066281,BC066282,BC069137,X04688,X12705 NP_000870,AAK19759,EAW62331,AAA98620,AAA74469,CAA31211,AAH66282,CAA28390,CAA31210,P05113 Hs.2247 GDB:120097 EDF|IL-5|TRF protein-coding 735921 IL5RA interleukin 5 receptor, alpha The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Six alternatively spliced transcript variants encoding three distinct isoforms have been reported. 1580863 1732409,1495999,18256354,17983872,17914408,17620072,17362254,17227823,16625214,16430207,16217591,12943658,12752323,12496276,12477932,12444155,12444154,12202242,12082592,11897983,11842302,11498591,11101310,10880230,10688814,9516124,9378992,8568239,8228251,7836416,7721873,1833065,1505961,1477296,1427903 3568 NM_175726,NM_000564,NM_175728,NM_175725,NM_175727,NM_175724,A24587,A26249,A26251,AC022002,AC024060,AY642135,CH471055,U18373,BC027599,BI520196,M75914,M96651,M96652,X61176,X61178,X62156 NP_783853,NP_000555,NP_783855,NP_783852,NP_783854,NP_783851,CAA01731,CAA01793,CAA01794,AAT45457,EAW63879,EAW63880,EAW63881,EAW63882,EAW63883,EAW63884,AAH27599,AAA36110,AAA59151,AAA59152,CAA43483,CAA43485,CAA44081,Q01344,Q14631,Q14632,Q14633,Q15469,Q8NHV7 Hs.68876 GDB:131661 CD125|CDw125|HSIL5R3|IL5R|MGC26560 protein-coding 1352582 IL6 interleukin 6 (interferon, beta 2) 1580484,1580485,1580486,1580487,1580488,1580493,1601588,1601585,1601582,1580863 17880940,17878753,17878722,17875759,17875573,17869650,17851695,17850436,17848619,17848119,17847004,17845635,17845205,17823890,17823310,17823083,17805558,17785926,17724799,17716980,17716775,17716608,17712756,17711410,17706955,15566952,15564333,15562761,15561952,15552843,15550378,15543342,15541252,15531184,15520404,15516360,15507390,15501028,15497456,15494357,15489334,15472205,15469436,15467541,15466088,15462470,15462469,15458685,15458467,15452323,15448117,15383370,15380900,15377473,15375575,15375172,15373762,15369724,15364891,15361124,15355555,15351436,15345683,15342284,15341923,15341921,15336915,15331795,15322060,15319170,15313471,15308875,15308783,15308667,15306845,15304377,15304054,15303107,15299003,15292466,15288631,15284113,15273551,15273081,15265021,15256287,18469355,18469018,18458677,18449426,18448485,18446552,18439079,18436879,18434913,18427208,18420533,18419107,18418640,18486766,18393231,18380561,18375611,18366487,18364273,18356242,18344712,18344399,18341424,18337305,18336388,18321738,18311435,18310311,18469698,18307986,18307517,18300111,18297540,18285696,18284424,18283248,18281810,18279814,18276608,18274638,18274637,18273643,18271757,18271063,18269659,18267353,18260730,18260266,18257935,18251163,18249219,18243142,18239642,18239554,18235016,18216863,18215601,18215484,18215266,18211631,18209571,18205904,18199986,18198221,18192685,18191407,18190463,18182917,18181010,18176176,18165865,18164040,18163209,18158121,18158110,18157711,18091699,18091322,18088554,18088482,18086924,18086782,18082358,18075483,18075466,18069022,18065760,18065201,18064337,18060802,18060036,18060032,18056971,18048771,18047677,18041648,18041006,18039467,18027847,18025155,18024284,18007247,18001296,17998015,17996468,17994165,17988804,17988266,17984211,17982709,17982069,17979974,17979192,17975159,17975158,17965799,17959884,17956865,17953698,17953695,17952840,17950274,17944600,17938902,17931612,17916900,17916761,17911113,17911088,17908769,17900510,17898129,17889209,17889143,1883960,10925276,2829354,10443688,7595060,3023045,7508917,16732314,14718574,18487018,16243534,16235772,16229816,16208404,16207551,16202743,16198606,16198603,16185356,16183563,16183136,16181755,16179573,16164695,16150725,16149059,16148087,16147857,16140413,16135414,16127269,16115919,16115908,16115611,16110031,16107886,16104959,16100774,16099893,16098388,16096323,16095005,16051899,16043746,16043358,16032529,16029943,16014026,16009674,16009564,16006970,16006475,16005243,15993715,15992611,15988318,15986200,15985687,15985484,15981030,15979549,15969253,15965659,15955385,15952088,15951664,15940250,15939070,15935883,15925543,15919832,15919456,15917409,15917161,15256272,15236771,15230289,15223612,15223609,15220553,15220185,15214940,15212825,15209388,15207246,15205588,15203561,15200452,15194822,15194285,15193763,15193488,15189946,15180973,15180970,15172469,15172007,15171792,15170937,15167972,15166129,15158360,15154666,17705048,15914210,15910501,15905624,15905620,15904871,15902127,15901906,15900570,15896753,15896304,15895091,15894559,15894558,15894122,15883744,15863613,15863389,15859365,15854959,15854776,15848524,15847702,15847080,15846175,15845864,15841043,15837947,15831362,15831279,15820616,15816827,15814282,15809210,15793269,15790728,15790343,15787640,15784966,15784411,15780075,15769552,15763337,15760495,15756054,15755291,15754274,15746456,15745939,15741245,15737987,15733973,15733644,15726267,15723707,15718915,15718495,15712220,15710474,15694997,15690532,15688424,15686588,15686457,15677734,15665272,15664789,15664628,15663966,15663749,15663746,15661740,15645209,15644653,15642878,15638425,15635591,15629668,15622443,15621151,15619425,15616014,15610530,15610507,15609321,15609131,15608432,15604420,15603866,15599305,15596840,15592292,15591791,15582581,15581980,15570310,17115186,17113632,17113059,17112887,17109502,17107380,17103073,17101288,17097497,17094271,17092389,17090647,17083041,17079331,17076613,17072955,17055359,17052682,17052299,17047337,17046587,17034727,17024220,17023074,17023036,17016617,17012252,17005410,17003778,17003362,17002904,16998242,16997495,16989825,16988089,16988060,16984279,16978071,16962335,16961803,16959787,16954375,16952201,16939660,16938461,16938116,16937502,16931134,16930778,16926159,16921112,16919469,16916659,16912152,16887796,16879054,16873708,16870193,16869943,16864908,16864906,16864905,16864901,16858645,16857895,16845637,16842669,16842617,16840657,16840032,16837641,16824159,16820919,16820586,16804071,16803995,16803517,16802343,16797905,16787648,16782174,16775170,16773437,16769764,16767656,16764962,16764598,16762155,16760905,16759385,16741147,16734562,16731080,16730575,16722148,16721634,16720107,16708852,16708557,16704689,16690518,16684268,16676071,16648144,16647242,16647016,16644865,16642549,16635548,16620830,16618781,16611358,16607077,16583473,16573560,16567828,16565838,16564564,16552338,16547804,16544245,16540751,16540406,16538877,16538639,16525568,16524883,16519772,16518755,16518703,16516857,16512757,16507605,16499908,16493118,16491351,16485780,16469407,16467451,16464741,16464738,16449530,16444434,16443741,16442710,16433832,16428383,16427731,16426569,16424284,16418171,16413199,16413198,16411061,16403098,16395669,16391840,16389181,16374139,16372246,16361891,16361815,16344268,16340466,16339311,16338121,16324758,16323703,16323614,16318580,16317381,16313298,16313297,16310043,16306329,16304445,16301860,16299685,16297587,16293576,16288983,16287542,16285960,16284733,16278864,16278387,16276011,16269960,16269662,16265697,16260731,16244501,17704111,17700210,17694420,17689974,17686006,17684929,17684217,17672997,17671746,17671745,17668881,17667842,17665434,17656329,17654453,17653646,17652155,17645589,17627763,17627181,17623760,17621267,17617741,17616429,17612762,17610900,17608808,17607501,17597660,17596140,17560462,17548183,17544674,17544514,17532054,17531241,17531096,17530721,17526950,17519976,17511783,17509454,17508011,17506774,17505301,17498265,17496310,17490702,17487763,17483704,17476620,17475670,17472849,17471097,17466952,17465679,17463301,17454884,17452560,17450584,17448042,17444587,17442294,17441979,17439892,17431659,17428355,17420140,17416766,17416433,17412556,17392554,17380888,17379849,17374439,17373716,17373677,17369174,17363400,17362770,17362351,17355643,17346257,17338374,17336597,17335789,17331078,17322283,17310346,17309100,17307204,17306245,17298885,17286759,17286233,17273664,17272771,17261502,17257312,17241887,17241868,17223976,17220301,17213200,17209781,17208210,17203290,17198275,17196171,17194638,17194482,17192581,17192490,17192276,17187019,17182950,17182572,17182550,17177164,17161613,17145371,17142509,17139467,17138064,17138053,17135599,17132891,17130180,17125598,17123852,17122961,17119059,17115422,17115419,14522096,14521945,14514772,14512079,14508221,14508181,13678786,12970232,12969979,12967650,12960348,12958150,12952969,12945076,12944981,12940515,12938195,12937023,12934185,12932839,12928784,12928051,12926107,12923493,12919773,12901869,12888915,12883476,12876073,12871882,12870175,12857678,12857677,12853948,12850808,12846758,12843357,12843190,12840146,12839942,12832326,12832117,12830005,12829785,12829659,12828754,12819039,12818128,12815949,12811627,12810629,12900415,12897342,12802423,12799618,12796383,12794182,12792728,12790760,12789531,12771987,12770686,12768442,12760309,12757654,12756345,12754410,12748876,12746914,12745542,12743452,12742994,12737276,12736743,12727959,12727948,12727841,12727794,12727482,12720537,12719374,12716337,12714267,12714254,12713584,12709682,12694213,12690205,12681965,12668157,12668153,12664314,12663465,12660878,12660820,12657090,12653788,12651071,12647840,12637697,12634650,12633940,12629515,12626585,12618859,12615367,12606524,12595908,12594059,12592380,12591385,12590978,12589429,12585340,12584029,12574550,12571160,12560873,12560330,15153787,15152368,15135368,15135265,15121272,15120189,15120188,15118287,15105457,15104679,15100312,15100309,15086488,15083368,15075299,15072962,15070960,15070705,15057902,15051507,15050298,15044662,15041721,15041717,15041164,15036420,15034082,15030461,15028733,15025214,15021309,15019283,15016829,15015143,15005841,15005726,15001458,14997289,14990346,14981536,14970177,14969768,14967376,14872501,14756669,14748439,14739540,14739370,14735187,14733913,14711458,14709647,14691340,14688371,14684705,14680981,14676217,14675394,14657427,14656692,14654926,14644408,14643032,14634584,14634582,14633738,14625191,14607690,14604894,14586325,14585094,14582815,14568951,14566255,14566095,14563376,14557872,14557477,14557255,14532843,14523823,14523169,12559950,12558814,12554901,12553555,12540635,12526950,12519862,12517814,12517591,12509497,12507818,12495721,12493411,12491092,12483530,12482836,12477932,12472176,12468916,12453469,12451269,12445803,12445202,12431817,12430875,12419823,12413693,12412787,12394188,12393699,12393542,12393446,12392859,12391243,12383455,12382118,12372336,12371985,12370503,12370360,12359431,12359225,12352619,12297725,12297113,12240899,12239630,12235153,12232842,12226829,12220549,12219016,12218157,12217290,12215823,12202945,12201209,12200114,12198224,12187073,12185451,12183057,12176919,12165085,12164325,12151314,12150965,12149213,12140751,12133353,12121679,12117953,12117921,12117737,12114287,12110411,12107724,12096927,12096924,12095061,12091348,12089714,12086705,12082592,12082590,12080442,12070032,12067898,12051396,12050565,12047360,12038454,12036196,12032172,12214260,12031914,12027404,12000745,11992567,11990931,11988625,11988246,11984595,11983287,11981433,11966578,11961304,11960393,11959895,11956023,11950697,11950481,11949822,11922913,11919083,11918227,11914754,11906646,11902285,11895465,11889177,11884403,11884401,11884029,11884027,11862386,11858187,11855786,12012622,11853279,11849463,11847482,11820460,11818668,11801594,11794009,11792588,11788581,11781191,11777983,11774563,11758653,11751408,11733366,11728144,11716039,11713964,11703956,11692078,11689614,11687509,11640949,11574109,11557672,11544437,11544434,11544427,11520812,11500818,11485024,11448119,11404167,11397324,11391238,11371414,11355017,11354638,11342474,11316066,11315919,11312376,11282548,11266928,11266927,11266856,11233912,11224491,11212160,11204808,11199329,11196676,11145851,11116068,11072751,11072134,11054276,11040178,11028446,10964543,10775602,10671302,10657672,10358063,9927325,9792375,9671211,9378998,9169458,9159484,9118960,9094636,8938574,8555185,8510564,8206884,8190832,8179923,8113688,7986583,7851440,7803268,7693046,7656270,7526541,7523444,7511596,7494249,3758081,3538015,3500852,3491322,3320204,3294161,3279116,3266463,2906047,2789513,2680567,2610854,2472117,2037043,1610348,1291290,7553888,8247028,17150965,17151125,16160188,15481145,12089333,9658081,9225992,9108403,8764000,7815507,7511078,11517385,8018916,1656094,15288392,8806809,7704970,7536422,1918997,1346976,17197385,16375755,16273337,16206161,15630704,15857508,10415019,12396456,12370346,10388525,8086129,12960275,12574335,12643274,16189514 1580484,1580485,1580486,1580487,1580488,1580493,1601588,1601585,1601582 3569 AC073072,AF372214,CH236948,CH471073,X04402,Y00081,BC015511,BT019748,BT019749,CR450296,NM_000600,CR590965,CR626263,M14584,M18403,M29150,M54894,S56892,X04403,X04430,X04602,A09363 NP_000591,AAS07539,AAK48987,EAL24265,EAW93756,EAW93757,EAW93758,CAA27990,CAA68278,AAH15511,AAV38553,AAV38554,CAG29292,AAA52728,AAA52729,AAA59154,AAC41704,AAD13886,CAA27991,CAA28026,CAA28268,P05231,Q75MH2,Q8N6X1,CAA00839,ABM82389,ABM85565 Hs.654458 GDB:120748 BSF2|HGF|HSF|IFNB2|IL-6 1643391,1643402 BW322_H,BMD2_H protein-coding 736525 IL6R interleukin 6 receptor Interleukin 6 (IL6) is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in immune response. The protein encoded by this gene is a subunit of the receptor complex for IL6. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1625433,1625431,1625434,1625435,1625441,1625444,1625429,1625430,729416,1625428,1625432,1580863 12633863,12574959,12553555,12553038,12477932,12472176,12461182,12445803,12419823,12414855,12412787,12372336,12079407,12008038,12002769,11884403,11017875,10982829,10785334,10462375,10066782,9927325,9373149,12748171,2261637,3136546,18464913,18276608,18065760,17984249,17908769,17898129,17671508,17652155,17619842,17570254,17519976,17357077,17346257,17313958,17310346,17160948,16973585,16912152,16899024,16817825,16794539,16731080,16710414,16557588,16372246,16127269,16034137,15895091,15837717,15816827,15641051,15579373,15562008,15561970,15489334,15456942,15306846,15297310,15284182,15213442,15166129,15100312,15063602,15041717,14718574,14592826,14557255,12917504,12857602,12832423,12829785,12789531,12748876,16270750,12643274,9169421,8467812,8428753,8265649,8125298,8056053,2788034,2529343,2157217,2112585,1889804,1872801,1381187,1281789,17151125,8450224,15857508 1625433,1625431,1625434,1625435,1625441,1625444,1625429,1625430,729416,1625428,1625432 3570 NM_000565,NM_181359,AF104230,AL162591,CH471121,CS068586,AK223582,AK293013,BC035327,BC089410,BC132684,BC132686,BM911928,S72848,X12830,X58298 NP_000556,NP_852004,CAH72853,EAW53199,EAW53200,EAW53201,CAI84624,BAD97302,BAF85702,AAH89410,AAI32685,AAI32687,AAC60635,CAA31312,CAA41231,P08887 Hs.709210 GDB:127966 CD126|IL-6R-1|IL-6R-alpha|IL6RA|MGC104991 protein-coding 1343808 IL6RL1 interleukin 6 receptor-like 1 7579586,1889804 157916 NG_002785,AL161629,X79982 GDB:128177 pseudo 731409 IL6ST interleukin 6 signal transducer (gp130, oncostatin M receptor) The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggested a critical role of the gene encoding this protein in regulating myocyte apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. 737752,737751,1580863,1627571,1627572,1626687,1626706,1627046,1627568,1626686,1625428,1625432 8390097,8999038,10982829,11251120,10954742,2261637,18246092,18223637,18060032,17997171,17979974,17961593,17926108,17885560,17664290,17652155,17619842,17519976,17436251,17404609,17081983,17053039,17028186,16728717,16524883,16335952,16274960,16254248,16141642,15944400,15895091,15809742,15754404,15721840,15677447,15292206,15184896,15133123,15129430,15081423,14764690,14764685,14718574,14676217,14557255,14504285,12917504,12830005,12829785,12819039,12782602,16973585,16909117,12707266,12643274,12477932,12472176,12434062,12403768,12386808,12372336,12361954,12234945,12161539,12047380,12039911,12030375,11952536,11920233,11884403,11834704,11821958,11786531,11781191,11742534,11689697,11557047,11468294,11285233,11098061,10946280,10880057,10811661,10800945,10579793,10504396,10219240,10026196,9501088,9388212,9353320,9256256,9195977,9188471,9013873,8547494,8511589,8353278,7736792,2788034,1617725,12707269,16774741 737752,737751,1627571,1627572,1626687,1626706,1627046,1627568,1626686,1625428,1625432 3572 NM_175767,NM_002184,AC016596,CH471123,U70617,AB015706,AB102801,AB102802,AB102804,AW015107,BC071555,BC117402,BC117404,M57230,S80479,U58146 NP_786943,NP_002175,EAW54936,EAW54937,EAW54938,BAA78112,BAD89392,BAD89393,BAD89395,AAI17403,AAI17405,AAA59155,AAB35921,AAB63010,O15281,P40189,Q13514,Q17RA0,Q5FC02,Q5FC04,Q5FC05 Hs.532082 GDB:126725 CD130|CDw130|GP130|GP130-RAPS|IL6R-beta interleukin 6 signal transducer protein-coding 1346615 IL6STP interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene 15754404,7736792 3573 NG_002748,AC015922 GDB:572870 pseudo 737457 IL7 interleukin 7 The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. This cytokine is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. Knockout studies in mice suggested that this cytokine plays an essential role in lymphoid cell survival. 1580863 16344560,16322477,16284535,16162475,15993713,15964403,15911446,15598813,15489334,15353558,15247003,15226432,15133032,15048088,14978141,14607751,14601648,14530372,12882655,12847229,12816983,12792903,12742982,12477932,12441142,12433286,12427286,12149213,12072494,12027403,12010786,11929775,11927620,11858939,11672535,11564764,11447288,10850801,10390077,9561370,9493287,9475337,9407080,9373149,9215626,9200446,9010926,8862549,8840152,8473051,8125298,7769137,7686307,2786840,2329282,2320434,9158092,16967044,15630452,2643102,8266077,18401975,18158957,17956896,17913246,17909291,17894415,17665400,17656007,17635814,17584976,17524612,17438097,17373935,17328044,17296584,17284597,17110377,17053062,16923550,16709829,16626395 3574 AC083837,CH471068,M29053,AB102879,AB102880,AB102882,AB102883,AB102885,AB102893,AK226000,AK291538,AU136355,NM_000880,BC047698,J04156,BC032487 NP_000871,EAW87060,EAW87061,EAW87062,AAC63047,BAD89408,BAD89409,BAD89411,BAD89412,BAD89414,BAD89422,BAF84227,AAH47698,AAA59156,P13232,Q5FBX5,Q5FBY3,Q5FBY5,Q5FBY6,Q5FBY8,Q5FBY9 Hs.591873 GDB:120098 IL-7 protein-coding 1320295 IL7R interleukin 7 receptor The protein encoded by this gene is a receptor for interleukine 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukine 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in the V(D)J recombination during lymphocyte development. This protein is also found to control the accessibility of the TCR gamma locus by STAT5 and histone acetylation. Knockout studies in mice suggested that blocking apoptosis is an essential function of this protein during differentiation and activation of T lymphocytes. The functional defects in this protein may be associated with the pathogenesis of the severe combined immunodeficiency (SCID). 1600151,1580863 9495344,8266077,15674389,14726805,14607751,12792903,12477932,12354940,12149213,11858939,11728342,11418668,11023514,10702271,10485656,10390077,9850848,9215624,8709637,7515933,2317865,2038316,1634235,1378163,16967044,15728501,9843216,18354419,18272905,18025189,17956896,17928869,17909291,17894415,17660817,17660816,17660530,17609371,17591854,17579041,17504502,17442928,17363735,17173927,17079288,17045841,16951331,16837861,16818678,16818676,16709829,16614257,16435014,16357322,16075257,16004964,15947093,15879083 1600151 3575 NM_002185,AC112204,AF043123,AF043129,AY449709,CH471119,AA485865,AF373204,AL713738,BC020717,BC067537,BC067538,BC067539,BC067540,BC069999,M29696 NP_002176,AAC83204,AAR08908,EAW55924,EAW55925,AAH20717,AAH67537,AAH67538,AAH67539,AAH67540,AAH69999,AAA59157,P16871,Q05CU8,Q6NSP4,Q6NWM0,Q6NWM1,Q6NWM2,Q6NWM3 Hs.591742,Hs.635723 GDB:127886 CD127|CDW127|IL-7R-alpha|IL7RA|ILRA protein-coding 1345686 IL8 interleukin 8 The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. 1580863 15072962,15069060,15063730,15057743,15047831,15039334,15021975,15001458,14977935,14767470,14756945,14730209,14729508,14725568,14718619,14714557,14711052,14688120,14676125,14675394,14672330,14669337,14657869,14645117,14641180,14634584,14634582,14630611,14625302,14623984,14604894,14578856,14550286,14530367,14500479,14500470,14500465,13129857,12960242,12952969,12933891,12919697,12909591,12902511,12901801,12898448,12898436,12876073,12871882,12870115,12857601,12855659,12850808,12849706,12839942,12839933,12820969,12818188,12802400,16775170,16777061,16769764,16757060,16720107,16719905,16702372,16698420,16687414,16679918,16679868,16635219,16632517,16620395,16618781,16581825,16573784,16554734,16552751,16552338,16547804,16547413,16545602,16541418,16525644,16503988,16499908,16498082,16491014,16429233,16411061,16406804,16403098,16394009,16387844,16373669,16365152,16322472,16317381,16313297,16299055,16293707,16293628,16289597,16284368,16280123,16270354,16251427,16251188,16240219,16220540,16204411,16202743,16197369,16195815,16195477,16185356,16168518,16166417,16164755,16134994,16125276,16110031,16107886,16107255,16101867,16098254,16098041,16096323,16088182,16085794,16052590,16039610,16038986,16038881,16029496,16007706,16004996,15987860,15979992,15976326,15976103,15972644,15962221,15945132,15917409,15914533,15902922,15897801,15894298,15866212,15862344,15854776,15845864,15845476,15845475,15831558,15828019,15805227,15803062,15784717,15760676,15760459,15746434,15731050,15710978,15708897,15701651,15679580,15667946,15664665,15661856,15659384,15652492,15652404,15650394,15650393,15641067,15630732,15630185,15627645,15615716,15613411,15609321,15607368,15607204,15598788,15591054,15585673,15585560,15583145,15579481,15579377,15579374,15569594,15564333,15556942,12594058,12594001,12586630,12584113,12576442,12573991,12565901,12548717,12547728,12543081,12533683,12530093,12529421,12524080,12520365,12513912,12502445,12496258,12485855,12480084,12477932,12453441,12415593,12410798,12393171,12391099,12388959,12388718,12384994,12382118,12366401,12364441,12359770,12239630,12225945,12223528,12195386,12187073,12186913,12186702,12169272,12169092,12165085,12164325,12163591,12151344,12151316,12150710,12149127,12139952,12133438,12126643,12123753,12626597,12615831,12117995,12117969,12117926,12117737,12115500,12101072,12100025,12096927,12096924,12093676,17307204,17307163,17304101,17296422,17277102,17268170,17257314,17244794,17240051,17222831,17220369,17215524,17211588,17207890,17204468,17203209,17202379,17189320,17174061,17141246,17141217,17124436,17115422,17078003,17075576,17061983,17035306,17024463,17022986,17020928,17020755,17008880,16996240,16990258,16978071,16973972,16959787,16939660,16937534,16937502,16928771,16927373,16926411,16897191,16890267,16873245,16864908,16864907,16846747,16825597,16824064,16820307,16797773,16795034,16794530,16793206,16788380,12797546,12792476,12782302,12777373,12748173,12748056,12744776,12738388,12729795,12727029,12720537,12707271,12702497,12662377,12660426,12654834,12654635,12653788,12646250,12637525,12634636,12633940,12632066,12628493,10881932,1840701,10880251,8381837,11483765,11877327,11564821,10820279,10620615,10734056,9551928,2007144,10823949,18457043,18448485,18416756,18395088,18385984,18380907,18370868,18314475,18310311,18307536,18301299,18284424,18283335,18282421,18276095,18274637,18273643,18266131,18260266,18259970,18252863,18251157,18235016,18234802,18211687,18192685,18190463,18184679,18182303,18164040,18156286,18090907,18086816,18086782,18086557,18080864,18079209,18074095,18073500,18065201,18060802,18057554,18054497,18031543,18028768,18025101,18023202,18019737,17974147,17953379,17949231,17947704,17944600,17931612,17908789,17908769,17883593,17869651,17854923,17854143,17850672,17848618,17845205,17805211,17802898,17786963,17767856,17761353,17725646,17720627,17710424,17709599,17709521,17707405,17681858,15542429,15541716,15534087,15531763,15529362,15528384,15521010,15514971,15498828,15496610,15489334,15489227,15469436,15454487,15453805,15385484,15379213,15364108,15358661,15356575,15356171,15342208,15337758,15331599,15321998,15321994,15302608,15300588,15297389,15292066,15280372,15280021,15273081,15271933,15265021,15222686,15220553,15218164,15214047,15209388,15208668,15208657,15203565,15203561,15196572,15194816,15181190,15178703,15178568,15169673,15158775,15152368,15146413,15143062,15120188,15102084,15096327,15085176,15079071,15077296,12081586,12067976,12060853,12056817,12055326,12055238,12039947,12034575,12033786,12027404,11999552,11989790,11978786,11973337,11966578,11964077,11960393,11956621,11950481,11911801,11910304,11896938,11888846,11884459,11884401,11876744,11868823,11855786,11854210,11814358,11784713,11756416,12091490,12090473,11328384,11160671,11083887,11069235,11023497,10985253,10985244,17680645,17671716,17671691,17667842,17639289,17638896,17630697,17624583,17621625,17620090,17618838,17617741,17599774,17592301,17581316,17581194,17565687,17550933,17543146,17540779,17538964,17517062,17513455,17513150,17498967,17498253,17494793,17488320,17471497,17466952,17462092,17458901,17456336,17444864,17433258,17420005,17400536,17388919,17380888,17356794,17355643,17351514,17346315,17336597,17327408,17314689,17309748,10982368,10929056,10775602,10707023,10491366,10376933,10368283,10361232,10343098,9921412,9828130,9659156,9510190,9464567,9378998,9363947,9323208,9141135,8702798,8663179,8662698,8631339,8626516,8081002,8077676,7695626,7673721,3480540,3322281,3279957,3260265,3223947,3057503,2953813,2681204,2664463,2663993,2659722,2655583,2648569,2648135,2555418,2523801,2456256,2212672,2200751,2184886,2182630,2170450,2145175,2005614,1988949,1895676,1673289,1639201,1391327,1281554,16934308,11226151,16697675,16375755,17197385,16273337,15481145,12089333,12021366,8995686,17077296,12370346,15133028,15494311 3576 AAB21773,AAB23944 NM_000584,AC112518,AF385628,CH471057,D14283,M28130,AJ227913,AK131067,BC013615,BT007067,CR542151,CR594973,CR595357,CR600500,CR601533,CR601902,CR603686,CR619554,CR623683,CR623827,M17017,M20922,M26383,X87888,Y00787,Z11686 NP_000575,AAK60276,EAX05687,EAX05688,EAX05689,BAA03245,AAA59158,AAH13615,AAP35730,CAG46948,AAA35611,AAA66353,AAA36323,CAA61140,CAA68742,CAA77745,AAB21773,AAB23944,P10145,Q6LDS6,ABM92181,ABM84653,AAA74722 Hs.624,Hs.561078 GDB:120099 3-10C|AMCF-I|CXCL8|GCP-1|GCP1|K60|LECT|LUCT|LYNAP|MDNCF|MONAP|NAF|NAP-1|NAP1|SCYB8|TSG-1|b-ENAP protein-coding 1353194 IL8RA interleukin 8 receptor, alpha The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. 1580863 10734056,8381837,10725748,18059279,18025257,17996233,17876799,17672867,17604950,17596666,17361014,17360650,17296422,17295203,17204468,17169533,17026468,16987681,16950632,16897191,16679868,12628493,12576754,12535747,12477932,12442335,12239185,12077146,12055238,12002274,11397869,11196695,11007922,10843722,10593335,10570306,10368283,9843397,9692902,9260277,8903513,8702798,8662698,8500355,8486366,8384312,8316840,8195702,8077663,7929358,7868904,7829970,7650389,7527448,1840701,1427896,1379593,1303245,16189514,16500343,16411061,16406804,16205979,16098254,15946947,15902300,15815621,15793866,15772681,15764156,15641067,15618253,15598788,15579377,15556942,15545821,15489334,15454487,15292066,15265017,15133028,15028716,14713106,14688334,12870115,12651900 3577 NM_000634,AB032728,AB032729,AB032730,AB032731,AB032732,AC097483,AY651785,AY916762,AY916763,AY916764,AY916765,AY916766,AY916769,AY916772,AY916773,CH471063,L19592,U11870,X65858,BC028221,BC072397,CA425329,CR541994,CR542029,CR617846,L19591,U11871 NP_000625,BAA92290,BAA92291,BAA92292,BAA92293,BAA92294,AAX93212,AAT46689,AAY21512,AAY21513,AAY21514,AAY21515,AAY21516,AAY21519,AAY21522,AAY21523,EAW70590,AAA59160,AAA64378,CAA46688,AAH28221,AAH72397,CAG46791,CAG46826,AAB59436,AAA64379,P25024,Q6LCZ9,ABM82644,ABM85821 Hs.194778 GDB:135039 C-C|C-C-CKR-1|CD128|CD181|CDw128a|CKR-1|CMKAR1|CXCR1|IL8R1|IL8RBA protein-coding 735299 IL8RB interleukin 8 receptor, beta The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. 1580863 16990258,16987681,16897191,16793206,16702372,16679868,16411061,16406804,16272353,16260092,16098254,16086366,15946947,15793866,15772681,15630732,15626158,15618253,15598788,15545821,15489334,15479720,15454487,15364949,15358660,15265017,15063762,15028716,15004234,14967163,14713106,12975484,12888558,12870115,12633567,12628493,12620646,12606476,12496258,12477932,12453441,12442335,12239185,12176324,12164325,11818437,11751889,11524231,11435493,11397869,11278485,11196695,11170396,11138777,11023990,11007922,10943863,10881932,10734056,10688807,10593335,9843397,9692902,9651375,9464567,9260277,9079638,9058825,17003486,10820279,10438939,10725748,9725262,10878382,18292390,18244953,18208820,18199703,18025257,17996233,17949231,17939034,17709521,17672867,17630697,17604950,17435771,17360650,17295203,17272812,17204468,17142783,8626516,8550564,8384312,8316840,8294449,8195702,8194768,8036519,7929358,7829970,7512557,1891716,1840701,1427896,1379593,1303245,16189514,8662698,8940121,8702798 3579 AAA15417,AAB24742 NM_001557,AB032733,AB032734,AC124768,AY714242,CH471063,M99412,U11866,U11869,AK290906,BC037961,L19593,M73969,M94582,U11872,U11873,U11874,U11875,U11876,U11877,U11878 NP_001548,BAA92295,BAA92296,AAY24026,AAT97985,EAW70589,AAC14460,AAB60656,BAF83595,AAH37961,AAB59437,AAA83148,AAA36108,AAA64380,AAA64381,AAA64382,AAA64383,AAA64384,AAA64385,AAA64386,AAA15417,AAB24742,P25025,Q53PC4,Q6LCZ7,ABM84587,ABM86597 Hs.846 GDB:127868 CD182|CDw128b|CMKAR2|CXCR2|IL8R2|IL8RA protein-coding 1349760 IL8RBP interleukin 8 receptor, beta pseudogene 12477932,8486366,1427896,1303245 3580 NR_002712,AC010136,M98335,X65859,BC033255 Hs.647858 GDB:135674 pseudo 735276 IL9 interleukin 9 The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. 1580863 9371819,1680606,18298822,18032114,17541281,17517104,17083349,16763206,16611254,16322282,15713213,15699153,15621723,15489334,15372022,15289339,15128795,15007348,14722888,12789235,12646606,12594054,12588703,12482498,12477932,12082592,11937570,11842292,11588013,11115404,10464327,8756628,8516290,8379467,7666875,7544789,2508790,2129501,1971295,1908723,1903074,1901233,15735688 3578 NM_000590,AC002428,AC004763,AF361105,CH471062,M30135,M86593,BC066283,BC066284,BC066285,BC066286,BC066287,M30134,S63356,X17543 NP_000581,AAB66904,AAC17735,AAK26666,EAW62204,AAA35887,AAA59161,AAH66283,AAH66284,AAH66285,AAH66286,AAH66287,AAA36400,AAB19823,CAA35581,P15248,Q6NZ74,Q6NZ75 Hs.960 GDB:118824 HP40|IL-9|P40 protein-coding 735670 IL9R interleukin 9 receptor The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1376929,17919707,17083349,15621723,15591265,12477932,11868823,11588013,11418623,11160343,11039580,10657622,10655549,10642536,10486269,10329852,9535918,9002663,8756628,8666384,8193355,7718508 3581 NM_176786,NM_002186,AJ271736,AY071830,CH471247,L39064,S71420,BC025298,BC051337,M84747,S71404 NP_789743,NP_002177,CAB96817,AAL55435,EAW55884,EAW55885,EAW55886,AAC29513,AAD14081,AAH51337,AAA58679,AAB30844,Q01113,Q86VA3 Hs.406228 GDB:134444 CD129 protein-coding 1343712 IL9RP1 interleukin 9 receptor pseudogene 1 8666384 3582 GDB:681232 1352385 IL9RP2 interleukin 9 receptor pseudogene 2 8666384 3583 L39063 GDB:681234 pseudo 1342838 IL9RP3 interleukin 9 receptor pseudogene 3 8666384 3584 L39062 GDB:681235 pseudo 1352105 IL9RP4 interleukin 9 receptor pseudogene 4 8666384 3585 NG_002764,AF270566,AF270567,AP001005 GDB:681236 pseudo 1348957 ILDR1 immunoglobulin-like domain containing receptor 1 737633,1580863 15489334,15381095,14702039,12477932 737633 286676 NM_175924,AC080098,CH471052,AK129974,AY134857,AY672837,AY672838,AY672839,BC044240 NP_787120,EAW79495,BAC85264,AAN10256,AAT77412,AAT77413,AAT77414,AAH44240,Q86SU0 Hs.98484 ILDR1alpha|ILDR1beta|MGC50831 protein-coding 1313940 ILF2 interleukin enhancer binding factor 2, 45kDa Nuclear factor of activated T-cells (NFAT) is a transcription factor required for T-cell expression of the interleukin 2 gene. NFAT binds to a sequence in the interleukin 2 gene enhancer known as the antigen receptor response element 2. In addition, NFAT can bind RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. NFAT is a heterodimer of 45 kDa and 90 kDa proteins, the smaller of which is the product of this gene. The encoded protein binds strongly to the 90 kDa protein and stimulates its ability to enhance gene expression. 1580863 7519613,10574923,9442054,11739746,11790298,16710414,16189514,16055709,15817156,15635413,15489334,14559993,12477932,12429849,11958450,11438540,11101529,10320367,9373149,8974006,8125298 3608 NM_004515,AL592150,AL713889,AY099265,CH471121,AK223326,BC000382,BM800544,CR590138,CR590641,CR591072,CR591829,CR593106,CR593428,CR598787,CR599153,CR599497,CR601055,CR602645,CR603695,CR603919,CR606140,CR606686,CR607965,CR607979,CR608248,CR610317,CR610359,CR610897,CR611903,CR613973,CR613974,CR616375,CR616749,CR617374,CR618172,CR618428,CR618729,CR620610,CR621446,CR623082,CR623344,CR624512,U10323 NP_004506,CAI18796,CAI13610,CAI13611,CAI13612,AAM45141,EAW53285,EAW53286,BAD97046,AAH00382,AAA20993,Q12905,Q53FG3,ABM82304,ABM85481 Hs.75117 GDB:384896 MGC8391|NF45|PRO3063 protein-coding 731671 ILF3 interleukin enhancer binding factor 3, 90kDa Nuclear factor of activated T-cells (NFAT) is a transcription factor required for T-cell expression of interleukin 2. NFAT binds to a sequence in the IL2 enhancer known as the antigen receptor response element 2. In addition, NFAT can bind RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. NFAT is a heterodimer of 45 kDa and 90 kDa proteins, the larger of which is the product of this gene. The encoded protein, which is primarily localized to ribosomes, probably regulates transcription at the level of mRNA elongation. At least three transcript variants encoding three different isoforms have been found for this gene. 1580863 7519613,10574923,9442054,11739746,8885239,10400669,18097023,18039850,17565699,17125513,17081983,16964243,16189514,16094384,16055709,15811368,15782174,15635413,15489334,15302935,15254228,14702039,14654356,14570900,12946349,12504009,12477932,12429849,11958450,11777942,11438540,11438536,11167023,11161820,10749851,10684936,10607473,10320367,9843854,9620363,9110174,8889548,8619474,1438302 3609 NM_004516,NM_153464,AC011475,AF202445,AF320244,AF320247,AJ271741,CH471106,AB209062,NM_012218,AF007140,AF141870,AF147209,AF167569,AF167570,AJ271744,AJ271745,AJ271746,AK000018,AK023222,AK025821,AK291205,AK291617,AL832528,AY240961,BC001770,BC003086,BC014221,BC018633,BC048314,BC064836,BM973331,CR457223,CR614313,CR618513,CR620107,U10324,X98264,X98265 NP_036350,NP_004507,NP_703194,AAF82685,AAF82686,AAF82687,AAK07424,AAK07425,CAC01121,CAC01122,CAC01123,CAC01124,EAW84131,EAW84132,EAW84133,EAW84134,EAW84135,EAW84136,EAW84137,BAD92299,AAC19152,AAD37575,AAD33966,AAD51098,AAD51099,CAC01404,CAC01405,CAC01406,BAA90887,BAB15245,BAF83894,BAF84306,AAP68989,AAH03086,AAH48314,AAH64836,CAG33504,AAA20994,CAA66917,CAA66918,Q12906,Q59GP7,Q6XCG5,Q9NXX0 Hs.465885 GDB:384899 DRBF|DRBP76|MMP4|MPHOSPH4|MPP4|NF-AT-90|NF90|NFAR|NFAR-1|TCP80 interleukin enhancer binding factor 3 protein-coding 1346718 ILF3L interleukin enhancer binding factor 3-like 7519613 3610 GDB:384901 732855 ILK integrin-linked kinase Transduction of extracellular matrix signals through integrins influences intracellular and extracellular functions, and appears to require interaction of integrin cytoplasmic domains with cellular proteins. Integrin-linked kinase (ILK), interacts with the cytoplasmic domain of beta-1 integrin. This gene encodes a serine/threonine protein kinase with 4 ankyrin-like repeats, which associates with the cytoplasmic domain of beta integrins and acts as a proximal receptor kinase regulating integrin-mediated signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863,633110 16936772,17353931,10871859,18283114,18214046,18037995,17951996,17656471,17646580,17575101,17563721,17553790,17498677,17468516,17420447,17335036,17298394,17213807,17187779,17143519,17107957,16951248,16818815,16799642,16648553,16611685,16517730,16421303,16407822,15905178,15882985,15867245,15802621,15722199,15565145,15489334,15467740,15313908,15304053,15284246,15073119,15044083,14749128,14679308,14555513,14551191,14500673,12960424,12925691,12884912,12778079,12771992,12686550,12665801,12654898,12642872,12629168,12600888,12477932,12432066,12372433,12220642,12176337,12167643,12164932,12152651,12149249,12060675,12020826,12020426,11931630,11856758,11724787,11278835,11078733,10712922,10601309,10022929,9737788,9736715,9366252,9177792,8538749,16189514,11696434,11694518,11546794,11445557,11402068,11331582,11331308,11313365,11304546 633110 3611 NM_004517,NM_001014794,NM_001014795,AC091564,AF244139,AJ404847,CH471064,AB209416,BC001554,CB113885,CR407673,CR598952,CR599632,CR601713,CR604127,CR608758,CR611887,CR615121,CR619697,CR622983,CR624967,CR625625,CR625972,CR749220,U40282 NP_004508,NP_001014794,NP_001014795,AAF74449,CAB99253,EAW68688,EAW68689,EAW68690,BAD92653,AAH01554,CAG28601,CAH18077,AAC16892,Q13418,Q59FP4,ABM82098,ABM85281 Hs.5158,Hs.708039 GDB:6155815 DKFZp686F1765|P59 protein-coding 731849 ILKAP integrin-linked kinase-associated serine/threonine phosphatase 2C The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. 1580863 17081983,15815621,15489334,14990992,14702039,12477932,11331582,11230166,9857069 80895 NM_030768,AC016757,CH471063,AK001043,AK055417,AL136850,AY024365,BC006576,BC035746,BC050422,CR533533,CR602640,CR605643,CR617282,CR618491 NP_110395,AAY24336,EAW71145,EAW71146,CAB66784,AAK07736,AAH06576,CAG38564,Q9H0C8,ABM83726,ABM87046 Hs.92033 GDB:9956034 DKFZP434J2031|FLJ10181|MGC4846|PP2C-DELTA protein phosphatase 2c protein-coding 1317496 ILVBL ilvB (bacterial acetolactate synthase)-like The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. 1580863 12477932,8954801 10994 NM_006844,AC003956,AC004794,CH471106,AB209065,BC000109,BC011722,BC011761,BC126913,CR607363,CR608986,CR609878,CR615100,U61263 A1L0T0,Q59GP4,NP_006835,AAB94632,EAW84464,BAD92302,AAH00109,AAH11722,AAH11761,AAI26914,AAC50934 Hs.78880 GDB:9958691 209L8|AHAS|FLJ39061|ILV2H|MGC1269|MGC19535 protein-coding 1601796 IMAA SLC7A5 pseudogene 12477932,12009310 387254 NR_002594,AC005632,BC071656,BI758996,BM904244 AAH71656,Q9GIP4 Hs.654805,Hs.664952 MMAA pseudo 1601711 IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 16554811,15814844,15489334,14702039,12477932 196294 NM_144981,AC108456,AL133295,CH471064,AK057788,BC023595 NP_659418,CAC39221,EAW68239,EAW68240,BAB71573,AAH23595,Q96LU5 Hs.502223 FLJ25059 protein-coding 1350569 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 1580863 15814844,15489334,12853948,12690205,12477932,11254443,9847074 83943 NM_032549,AC003989,AC004142,AC005161,AC005166,AC006002,AC006392,AC006993,AC006997,AC073326,AC073980,AC092613,AC106866,CH236947,CH471070,AF359563,BC008497 NP_115938,AAS07432,AAS02043,AAS07496,AAS07497,AAS07528,EAL24378,EAW83444,EAW83445,EAW83446,EAW83447,AAK52905,AAH08497,Q96T52 Hs.655722 GDB:11499195 IMP2|IMP2-LIKE imp2 inner mitochondrial membrane protease-like (s. cerevisiae) protein-coding 1321729 IMMT inner membrane protein, mitochondrial (mitofilin) 1580863 12477932,12469345,11239393,10830953,9373149,8889549,8889548,8125298,8039717,1602151,14623284,14667819,16169070,17043677,9168817,17624330,16713569,15647377,15489334,15383276 10989 NM_006839,NM_001100169,NM_001100170,AC009309,CH471053,AF148646,AK225780,AY232292,AY921637,BC002412,BC005983,BC027458,BC107419,BU729109,BX537369,CR456793,CR610445,CR749590,D21091,D21092,D21093,D21094,DC403234,L42572 NP_006830,NP_001093639,NP_001093640,EAW99462,EAW99463,AAF73126,AAP69987,AAX10024,AAH02412,AAH05983,AAH27458,AAI07420,CAD97612,CAG33074,CAH18389,BAA04653,BAA04654,BAA04655,BAA04656,AAA85336,Q05DN3,Q16891,Q3B7X4 Hs.148559 GDB:378367 DKFZp779P1653|HMP|MGC111146|P87|P87/89|P89|PIG4|PIG52 protein-coding 1345312 IMMTP inner membrane protein, mitochondrial (mitofilin) pseudogene 10830953 54045 NG_000919,AL773602 GDB:10796359 pseudo 1315660 IMP3 IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. 12655004,18223334,17192788,16381901,16189514,15635413,15489336,15489334,14702039,12477932,11790298,11543634,11256614,11230166,11076863,9373149,8125298,8012384,7566098 55272 AC105020,CH471136,Z55621,Z55622,AA365493,AK001830,AK223121,AL136913,AY050497,BC006487,BC011745,BC020557,CB141947,CR590019,CR599893,CR601431,CR604682,NM_018285,AB051628 EAW99244,BAA91929,BAD96841,CAB66847,AAL06639,AAH06487,AAH11745,Q0JSQ4,Q96Q46,Q9NV31,CAL38460,NP_060755,BAB54955 Hs.513043 GDB:11503220 BRMS2|C15orf12|DKFZp586L0118|FLJ10968|MRPS4 chromosome 15 open reading frame 12 protein-coding 1605599 IMP4 IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 12655004,15815621,15635413,15489334,14565981,12477932,11790298,9110174,8619474 92856 NM_033416,AC132479,CH471263,AF054996,AK289878,AK292345,AY364245,BC010042,CR593468,CR619192,CR621399 NP_219484,AAY24076,EAW55613,EAW55614,EAW55615,EAW55616,BAF82567,BAF85034,AAQ76804,AAH10042,Q3ZTT3,Q96G21,ABM87593,ABW03901 Hs.91579 BXDC4|MGC19606 protein-coding 1606947 IMP5 intramembrane protease 5 16415175,15385547,15293277,12477932,12139484 162540 NM_175882,AC003662,AY169316,CH471233,BC022041,BC025401 NP_787078,AAO12541,EAW93564,AAH22041,AAH25401,Q8IUH8 Hs.144491 SPPL2c protein-coding 737559 IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 1300048,1580863 9210592,8718889,8068621,8068620,6253491,1332026,1377913,17068342,16189514,15489334,14699425,12477932,12176979,11959401,11911470,11281967,9339367 3612 NM_005536,AC090255,CH471068,Y11360,Y11361,Y11362,Y11363,Y11364,Y11365,Y11366,Y11367,AF042729,BC008381,BC009565,CR606000,X66922 NP_005527,EAW87095,EAW87096,EAW87097,EAW87098,EAW87099,EAW87100,CAA72195,AAB97468,AAH08381,AAH09565,CAA47359,P29218 Hs.695965 GDB:134653 IMPA inositol (myo)-1(or 4)-monophosphatase 1 protein-coding 2293175 IMPA1P inositol(myo)-1(or 4)-monophosphatase 1 pseudogene 650747 XR_038744,XR_038698,XR_018543,NG_007612,AC090255 pseudo 1347157 IMPA2 inositol(myo)-1(or 4)-monophosphatase 2 1580863 9322233,17388992,17340635,17251911,17068342,15557493,15505643,15489334,14699425,14624008,12477932,11673796,11317223,10822345,10822344,8889548 3613 CQ964657,EF444990,AF014398,AF200432,BC017176,BC031560,BT007061,CF134610,CR594604,CR612025,CR622241,CR623705,CR626000,NM_014214,AF025880,AF025882,AF025884,AF025886,AF085628,AF085630,AF085632,AF157102,AP001269,AP001542,CH471113 EAX01558,EAX01559,EAX01560,CAI30710,ACA06007,ACA06008,AAB70915,AAF07824,AAH17176,AAH31560,AAP35710,O14732,NP_055029,AAD22135,AAD22136,AAD22137,AAD22138,AAD22141,AAD22139,AAD22140,AAD40683,Q6PIP6,Q9UNV4,Q9UNV5,Q9UNV6,Q9UPE5,Q9UPE6,Q9UPE7,Q9UPE8 Hs.367992 GDB:6539706 protein-coding 1605062 IMPACT Impact homolog (mouse) 15752730,12477932,11244491,11116084,15937339,15871461 55364 AC007922,AF232229,CH471088,AB026264,AF208694,AK292533,BC034016,BC036074,CR605287,CR623681,NM_018439 NP_060909,AAG23917,EAX01184,EAX01185,EAX01186,EAX01187,EAX01188,BAA95160,AAG35736,BAF85222,AAH34016,AAH36074,Q9P2X3,ABM84067,ABW03572 Hs.515317 MGC33718 protein-coding 1603038 IMPAD1 inositol monophosphatase domain containing 1 14702039,12754519,12477932 54928 NM_017813,AC032027,CH471068,AI095394,AK000428,AK090988,AY032885,BC017797,BC067814 NP_060283,EAW86789,EAW86790,EAW86791,BAA91158,BAC03563,AAK52336,AAH17797,AAH67814,Q8N287,Q9NX62 Hs.438689 FLJ20421|IMPA3 protein-coding 1322388 IMPDH1 IMP (inosine monophosphate) dehydrogenase 1 1599608,1580863 7903306,1969416,18295591,17851563,17713475,17001353,16936083,16384941,16344560,16272056,16214101,16038673,15851576,15489334,15465556,15028279,14702039,12690205,12477932,11875050,11875049,9020170,8513324,7896827,7896275,7814030,7763314,7635473,2902093,1356621 1599608 3614 NM_183243,NM_001102605,NM_000883,AC010655,CH236947,CH471070,AK054640,AK054667,AK092452,AK122994,AK131294,BC033622,BX406207,CD014010,CR603937,CR609676,CR625154,CR933672,DA566139,DC326380,J05272 NP_899066,NP_001096075,NP_000874,EAL24310,EAL24311,EAW83649,EAW83650,EAW83651,EAW83652,EAW83653,BAB70780,BAD18464,AAH33622,CAI45968,AAA36114,P20839,Q5H9Q6,Q6ZNB1 Hs.654401 GDB:128085 DKFZp781N0678|IMPD|IMPD1|LCA11|RP10|sWSS2608 protein-coding 1602426 IMPDH1P1 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 1 340499 NG_005146,NG_006021,AL354989 bA537H15.4 pseudo 1353295 IMPDH1P11 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11 7905856 727833 XR_015181,XR_037477,XR_015953,NG_001152,AC133565,L19709,BC127892 AAI27893 Hs.647352 GDB:141568 IMPDH1|IMPDHL1 pseudo 2289751 IMPDH1P2 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 2 402394 NG_005150,AC091807 pseudo 2289880 IMPDH1P3 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 3 136307 NG_005144,AC008265,AC025593,CH236950 pseudo 2289774 IMPDH1P4 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 4 139334 NG_005145,AL591587 pseudo 2289873 IMPDH1P5 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 5 340780 NG_005147,AL450306 pseudo 2289759 IMPDH1P6 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 6 392267 NG_005149,AC021305 pseudo 2289772 IMPDH1P7 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 7 391467 NG_005148,AC018735 pseudo 2289738 IMPDH1P8 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 8 131961 NG_005143,AC090945 pseudo 2289745 IMPDH1P9 IMP (inosine monophosphate) dehydrogenase 1 pseudogene 9 441132 NG_005151,AL138725 pseudo 1353070 IMPDH2 IMP (inosine monophosphate) dehydrogenase 2 This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5'-monophosphate into xanthine-5'-monophosphate, which is then converted into guanosine-5'-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. 1580863 16189514,8681386,7903306,1969416,17353931,18444945,18043470,17713475,17660802,17496727,15670151,15621150,15592455,15489334,12477932,10930578,10194364,10097070,9858805,9278455,8098009,7999076,7910933,7896827,7763314,2902093 3615 AC137630,AY491522,AY491523,L08114,L33842,L39210,AY545560,BC006124,BC009236,BC012840,BC015567,J04208,NM_000884 NP_000875,AAR84630,AAR84631,AAA36113,AAA67054,AAB70699,AAS50155,AAH06124,AAH12840,AAH15567,AAA36112,P12268,Q6QE17,Q6RUP8,Q6RUP9,ABM84329,ABM87720 Hs.654400 GDB:128086 IMPD2|IMPDH-II protein-coding 1352807 IMPG1 interphotoreceptor matrix proteoglycan 1 1580863 9691169,16354621,15489334,14691150,14574404,12477932,10601738,9813076,9719680,9719369 3617 NM_001563,AF017776,AL356962,AL392166,CH471051,AF047492,BC117450,BC117452,CR749572 NP_001554,AAC68835,CAC36327,CAI41297,CAI41298,EAW48725,EAW48726,EAW48727,AAC03789,AAI17451,AAI17453,CAH18367,Q17R60,Q68D53 Hs.590893 GDB:6888125 GP147|IPM150|SPACR protein-coding 1348827 IMPG2 interphotoreceptor matrix proteoglycan 2 Interphotoreceptor matrix proteoglycan-2 is part of an extracellular complex occupying the interface between photoreceptors and the retinal pigment epithelium in the fundus of the eye.[supplied by OMIM] 10702256,10542133 50939 NM_016247,AC068764,AC093008,AF271379,CH471052,AF157624,AF173155,AL713046,AW963481 NP_057331,AAG49889,EAW79803,AAF13154,AAF06999,Q9BZV3,AAI56203,AAI56946 Hs.272380 GDB:11506165 IPM200|SPACRCAN protein-coding 69037 INA internexin neuronal intermediate filament protein, alpha 1580863 15121898,12477932,12209604,10862698,9435256,7690783,2201753,7769995,16722980,15673434,15489334,15161649 9118 NM_032727,AL591408,CH471066,AB209785,AY034000,BC006359,CR591335,S78296 NP_116116,EAW49653,EAW49654,BAD93022,AAK57543,AAH06359,AAB34482,Q16352,Q59EM6,Q5SYD2,Q96J72,ABM83659,ABM86906 Hs.500916 GDB:118844 MGC12702|NEF5|NF-66|TXBP-1 internexin, alpha protein-coding 1604056 INADL InaD-like (Drosophila) This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. 9280290,17287269,17235357,16710414,16678097,16637659,16129888,15489334,15241471,12771187,12527193,12477932,12021270,11964389,11927608,11872753,11509564,11374908,10079096,9647694,8617505 10207 AC097064,AL136458,AL353802,AL449143,AL590374,CH471059,AB044807,AF397170,AJ001306,NM_176877,AJ224747,AJ224748,AK130492,BC021135,BC142661,BC142723,CD356816 NP_795352,CAI22258,CAI22260,CAI22262,CAH70416,CAH70418,CAH70420,EAX06593,EAX06594,EAX06595,EAX06596,BAB19683,AAM28433,CAA04666,CAA12112,CAA12113,AAH21135,AAI42662,AAI42724,Q8NI35 Hs.478125 Cipp|FLJ26982|InaD-like|PATJ protein-coding 1605176 INCA inhibitory caspase recruitment domain (CARD) protein 15383541 440068 NM_001007232,AP001153,CH471065,AY761064 NP_001007233,EAW67064,AAV28630,Q5XLA6,AAI46364 Hs.44102 protein-coding 1604452 INCA1 inhibitor of CDK interacting with cyclin A1 15159402,12477932 388324 NM_213726,AC004771,AY601906,AY604176,BC119781,BC122873,AY601907 AAT09152,NP_998891,AAT09153,AAT36739,AAI19782,AAI22874,Q0VD86 Hs.658926 HSD45|MGC148150|MGC148151 protein-coding 1313235 INCENP inner centromere protein antigens 135/155kDa In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM] 1580863 9864353,14610074,16239925,17956729,16764853,17623812,17081983,16571674,16565220,16378098,15917996,15796717,15489334,15316025,15249581,14702039,12925766,12660166,12584241,12477932,11516652,11453556,11139336,10737800,10369859,9914378,8088460,1860899 3619 AF282265,AK056195,AW839685,AY714053,BC032678,BC098576,BC111732,CR599315,CV569756,NM_001040694,NM_020238,AP002793,CH471076 EAW74004,EAW74005,AAF87584,AAU04398,AAH98576,Q9NQS7,NP_001035784,NP_064623,EAW74003 Hs.142179 GDB:118825 FLJ31633|MGC111393 protein-coding 1346818 INDO indoleamine-pyrrole 2,3 dioxygenase Gamma-interferon (IFNG; MIM 147570) has an antiproliferative effect on many tumor cells and inhibits intracellular pathogens such as Toxoplasma and Chlamydia, at least partly because of the induction of indoleamine 2,3-dioxygenase (INDO; EC 1.13.11.42). This enzyme catalyzes the degradation of the essential amino acid L-tryptophan to N-formylkynurenine.[supplied by OMIM] 1580863,2290313,2290190 15254595,15245429,15102781,15070879,15001472,14969766,14871294,14502282,13678429,12963490,12938169,12766158,12738417,12477932,12471139,12444143,12228717,12186837,11987129,11912287,11876748,11867636,11230514,11180976,8817290,8406467,8404046,2848333,2549057,2501398,2482041,2326172,1716396,1449503,17158233,2109605,16477023,14704851,9712583,18205804,18176870,18055547,18045970,18036645,17951526,17911610,17711549,17674321,17433037,17626075,17535808,17393386,17321596,17318080,17294609,17229698,17202379,17192467,17182891,17170728,17038913,17015408,16842443,16834326,16686756,16513157,16511306,16489067,16421220,16406698,16319139,16176799,16135011,15967116,15950064,15947091,15919929,15711557,15528322,15489334,15374002 2290313,2290190 3620 NM_002164,AC007991,CH471080,AY221100,BC027882,CD690354,CR591703,CR613807,CR614485,CR616634,CR621546,M34455,X17668 NP_002155,EAW63270,EAW63271,EAW63272,AAO34405,AAH27882,AAA36081,CAA35663,P14902,Q540B4 Hs.840 GDB:138759 CD107B|IDO protein-coding 1602972 INDOL1 indoleamine-pyrrole 2,3 dioxygenase-like 1 17671174,17499941,17430106,14702039,12477932 169355 NM_194294,AC007991,AC087518,CH471080,AK092502,AK128691,BC031685,BC113496,BC113498,EF052681 NP_919270,EAW63269,BAC87573,AAI13497,AAI13499,ABM69260,Q6ZQW0 Hs.676257 protein-coding 1350074 INE1 inactivation escape 1 9244435 8552 O15225 NM_003669,Y10696 GDB:9955610 1347419 INE2 inactivation escape 2 9244435 8551 NR_002725,AC096510,Y10697 Hs.653287 GDB:9955607 miscrna 1343033 INF2 inverted formin, FH2 and WH2 domain containing Actin filaments grow only when actin monomers have access to the fast-growing barbed end of the filament. The geometry of the filament network depends on the actions of the ARP2/3 complex (MIM 604221) and members of the formin family, such as INF2. The ARP2/3 complex binds to the sides of preexisting filaments and nucleates filaments whose barbed ends are quickly blocked by capping proteins, producing brush-like structures, such as those found at the leading edges of crawling cells. In contrast, formins bind to the barbed ends of growing filaments and protect them from capping, creating long filaments that can be cross-linked into bundles, such as those found in actin cables of yeast. Interaction of formins with actin barbed ends occurs through the formin homology-2 (FH2) domain. FH2 domains accelerate filament nucleation, move with the barbed end as the filament grows, and block capping of the barbed end by proteins such as gelsolin (GSN; MIM 137350). The FH1 domain of formins binds to profilin (see MIM 176610) and accelerates elongation from the FH2-bound barbed ends (Bindschadler and McGrath, 2004 [PubMed 15466701]; Chhabra and Higgs, 2006 [PubMed 16818491]).[supplied by OMIM] 16818491,16344560,15466701,15203218,12665801,12477932,11181995,9373149,8125298 64423 NM_022489,NM_001031714,NM_032714,AL583722,CH471061,AF318379,AK025709,AK027105,AK225325,AK290083,AL832905,BC006173,BC008756,BC064828,BG335490,BG820892,BI489810,BQ961756,BU538960,BX248757,CD631414,CR612331,DA500952,DQ395338,DQ395339,DQ395340,DQ499599 NP_071934,NP_001026884,NP_116103,EAW81871,EAW81872,EAW81873,EAW81874,EAW81875,AAL55886,BAB15224,BAB15659,BAF82772,CAH10628,AAH06173,AAH08756,AAH64828,CAD66564,ABD59343,ABD59344,ABD59345,ABF54970,Q1HDL1,Q27J81,Q86TR7,Q8WYS3,Q9H5G7 Hs.24956 C14orf151|C14orf173|DKFZp762A0214|FLJ22056|MGC13251|pp9484 protein-coding 1314890 ING1 inhibitor of growth family, member 1 This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. 1600155 8944021,10866301,17949449,17929852,17585055,17379210,16607280,16581770,16465410,16325212,16273637,15800978,15677627,15662138,15601862,15534913,15526165,15451426,15375504,15201991,14676120,14665632,14581367,12963728,12637159,12632089,12477932,12243754,12208736,12147653,12015309,12008079,11991811,11784859,11682605,11481424,11118440,10807544,10779953,10754201,10679922,10626813,10554029,9440695,9330636,9186514,9121449,9102209 1600155 3621 AB037594,AF001954,AF044076,AF078835,AF149721,AF149722,AF149723,AF181849,AF181850,AI016573,AJ310392,BC018348,BC093942,BC093944,BF435293,BF510437,BG703874,NM_198217,NM_198218,NM_198219,NM_005537,AB024403,AB024404,AB024405,AB037387,AF078837,AF167551,AL157820,CH471085,AA450055,AB024401,AB024402,AB031269 BAB20992,AAB60879,AAC00501,AAG12174,AAF37421,AAF37422,AAF37423,AAF07920,AAF07921,CAC38067,AAH93942,AAH93944,Q5T9G8,Q5T9G9,Q5T9H0,Q5T9H1,Q9UK53,NP_937860,NP_937861,NP_937862,NP_005528,BAA82888,BAA82889,BAA83462,BAA82890,BAB08101,BAB08102,BAB08103,AAG12175,AAG02578,AAG02579,CAI16972,CAI16973,CAI16974,CAI16975,EAX09127,EAX09128,EAX09129,EAX09130,EAX09131,BAA82886,BAA82887,BAA83496 Hs.46700,Hs.508725 GDB:4562671 p24ING1c|p33|p33ING1|p33ING1b|p47|p47ING1a protein-coding 1348017 ING2 inhibitor of growth family, member 2 This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. 1580863 15243141,10072587,18160212,17929852,17469822,16782091,16755297,16488987,16465410,16024799,15761153,15748897,15489334,15356280,15005689,12859901,12477932,11784859,11481424,8889548 3622 NM_001564,AC107214,AF062747,CH471056,AB012853,AF053537,AJ006851,BC030128,BM929984 NP_001555,AAG11396,EAX04689,EAX04690,BAA36419,AAG11395,CAC20567,AAH30128,Q9H160 Hs.107153 GDB:9864369 ING1L|p33ING2 protein-coding 1321527 ING3 inhibitor of growth family, member 3 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. 18081876,17634537,15647280,15489334,15196461,14966270,14702039,12963728,12853948,12545155,12477932,12080476,9847074,8889548 54556 NM_019071,NM_198267,AC004537,CH236947,CH471070,AF074968,AF161419,AF180298,AK000096,AK291905,AY007790,BC009776,BC009777,BC010851,BC062634,BC073865,BC093091,BC093689,BC101609,BU677936,BU684039,CA442734,CR598359,CR618547,CR621026,AL603623 NP_061944,NP_938008,AAQ93373,AAQ93374,EAW83546,EAW83547,EAW83548,EAW83549,AAG12172,AAF28979,AAQ13674,BAA90942,BAF84594,AAG23285,AAH09776,AAH09777,AAH10851,AAH62634,AAH73865,AAH93091,AAH93689,AAI01610,Q567P3,Q5GRH6,Q9NXR8,CAC48260,AAI46418,AAI53172 Hs.489811 GDB:11508403 Eaf4|FLJ20089|ING2|p47ING3 protein-coding 1319738 ING4 inhibitor of growth family, member 4 This gene encodes a tumor suppressor protein that contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in the TP53-dependent regulatory pathway. Multiple alternatively spliced transcript variants have been observed that encode distinct proteins. 12750254,15029197,15251430,18394746,17848618,17517644,17325660,16973615,16920330,16916647,16096374,15935570,15897452,15882981,15528276,15489334,15342556,12477932,10931946,8889548,16189514 51147 NM_001127582,NM_001127583,NM_001127584,NM_001127585,NM_001127586,AC125494,AC135892,CH471116,AB197695,NM_016162,AB197696,AB197697,AF063594,AF110645,AF156552,AW515338,AW614868,BC007781,BC013038,BC095434,BG705367,BG718170,BM727982,BM922497,BP303219,BQ066994,CR596785,CR614525,CR616048,EF152349,EF152350,EF152351,EF152352 NP_057246,NP_001121054,NP_001121055,NP_001121056,NP_001121057,NP_001121058,EAW88762,EAW88763,EAW88764,EAW88765,EAW88766,EAW88767,EAW88768,EAW88769,EAW88770,EAW88771,EAW88772,EAW88773,BAF30477,BAF30478,BAF30479,AAG43153,AAD48585,AAL79773,AAH07781,AAH13038,AAH95434,ABO61139,ABO61140,ABO61141,ABO61142,Q0EF62,Q0EF63,Q4VBQ6,Q9UNL4 Hs.524210 GDB:11510883 MGC12557|my036|p29ING4 protein-coding 1317373 ING5 inhibitor of growth family, member 5 The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This protein can bind TP53 and EP300/p300, a component of the histone acetyl transferase complex, suggesting its involvement in TP53-dependent regulatory pathway. 1580863 12750254,17081983,16189514,15489334,15383276,14702039,12477932,8889548 84289 BI962551,BQ187350,CR603493,AC114730,NM_032329,AC133528,CH471063,AF189286,AI701412,AK074422,AK128322,AK289958,BC005370,BC039028,BC071899 Q53NU6,Q57Z54,Q6ZRC8,Q8WYH8,AAX82019,NP_115705,AAY14921,EAW71287,EAW71288,EAW71289,AAL68979,BAB85078,BAC87384,BAF82647,AAH05370,AAH71899 Hs.645460 GDB:11510885 FLJ23842|p28ING5 protein-coding 1347843 INGX inhibitor of growth family, X-linked, pseudogene 1580863 15489334,15356280,12859901,12477932,10626813 27160 NR_002226,AL590763,AF149724,BC101123,BC101124,BC117297 AAF73156,AAI01124,AAI01125,AAI17298,Q495L0,Q9P0U5 Hs.567456 GDB:10795911 ING1-like|ING2|MGC119770|MGC119771 pseudo 736727 INHA inhibin, alpha The inhibin alpha subunit joins either the beta A or beta B subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. However, in prostate cancer, expression of the inhibin alpha-subunit gene was suppressed and was not detectable in poorly differentiated tumor cells. Furthermore, because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. 1580863,2290369,2290383,2290367,2290380,2290381,2290368,2290379,2290384,2290390 7890768,12456957,12324653,1310063,8267637,3267209,10320815,9166111,9032295,10865214,18413775,18249384,18091323,18047273,17933751,17847007,17603052,17457606,17272393,17074342,16989826,16778388,16758344,16723387,16650414,16621788,16423381,16396934,16390856,16195413,16161415,16048795,15950648,15816368,15745937,15578072,15562017,15551748,15489334,15451570,15374731,15236099,15227735,15214825,15205401,14967395,14667886,14596968,12857425,12721183,12697670,12682233,12679471,12660265,12651901,12587530,12576745,12493718,12477932,12456605,12385827,12093833,11818495,11344232,11134153,11098038,10746731,9506758,8885240,3758355,3754442,3345731,3035540,3016724,2770810,2767687,2575216,2036994,1448148,1423490,16189514 2290369,2290383,2290367,2290380,2290381,2290368,2290379,2290384,2290390 3623 NM_002191,A14420,AC009955,CH471063,X04445,BC006391,BC039076,BT006954,CR617999,M13144,M13981 NP_002182,CAA01158,EAW70774,CAA28040,AAH06391,AAP35600,AAA59167,AAA59166,P05111,ABM92219,ABM84699 Hs.407506 GDB:120100 inhibin alpha protein-coding 732688 INHBA inhibin, beta A The inhibin beta A subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumor-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta A subunit forms a homodimer, activin A, and also joins with a beta B subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. Finally, it has been shown that the beta A subunit mRNA is identical to the erythroid differentiation factor subunit mRNA and that only one gene for this mRNA exists in the human genome. 1580863 12456957,9884026,16198295,12324653,2575216,1310063,8267637,3267209,10320815,9166111,9032295,12702211,10865214,7890768,12213882,18413775,18166170,18156495,18089557,18077449,18001154,17968943,17954979,17929017,17909904,17478557,17462637,17436000,17384470,17204604,16988001,16820918,16643884,16423381,16344560,16081641,15950648,15737465,15580313,15489334,15451571,15374731,15292256,15205401,15188178,15123686,15123352,15094188,15070957,15031321,14993131,14738881,14671321,14671202,14613548,12877256,12853948,12721183,12697670,12690205,12660162,12651901,12587530,12524226,12477932,12414903,12399529,9373149,9202237,8955111,8397373,8125298,7887917,3758355,3754442,3345731,2767687,1777673,1646080,16189514,8015550,12161551,12149426,12088879,11969340,11459787,11344232,11266516,11134153,10859029,10746731,9872992 3624 NM_002192,A14422,AC005027,CH236951,CH471073,CS274788,X04447,X57578,X57579,AF218018,AK222742,AK290584,AU137531,BC007858,BX648811,D49743,J03634,M13436,X72498 NP_002183,CAA01159,AAQ96861,EAL24001,EAW94139,EAW94140,EAW94141,CAJ84003,CAA28041,CAA40805,CAA40806,AAG17260,BAD96462,BAF83273,AAH07858,CAI46003,BAA08577,AAA35787,AAA59168,CAA51163,P08476,Q53H39,Q5HYA2,Q9HBP0,ABM84084,ABM87451 Hs.583348 GDB:119346 EDF|FRP inhibin beta-a protein-coding 735395 INHBB inhibin, beta B The inhibin beta B subunit joins the alpha subunit to form a pituitary FSH secretion inhibitor. Inhibin has been shown to regulate gonadal stromal cell proliferation negatively and to have tumour-suppressor activity. In addition, serum levels of inhibin have been shown to reflect the size of granulosa-cell tumors and can therefore be used as a marker for primary as well as recurrent disease. Because expression in gonadal and various extragonadal tissues may vary severalfold in a tissue-specific fashion, it is proposed that inhibin may be both a growth/differentiation factor and a hormone. Furthermore, the beta B subunit forms a homodimer, activin B, and also joins with the beta A subunit to form a heterodimer, activin AB, both of which stimulate FSH secretion. 1580863 3122219,12456957,2575216,10320815,12419948,12790766,18413775,17991484,17914098,17761145,17666595,17525068,17376219,17272393,16989826,16935389,16758344,16728349,16650820,16650414,16423381,16195413,16048795,16024538,15910540,15851553,15757857,15562017,15551748,15489334,15374731,15319819,15205401,15196700,15070953,12857425,12651901,12571168,12543931,12493718,12477932,12414903,12032389,11344232,11266516,11134153,9202237,3754442,3345731,2767687,2739657,2364091,1646080 3625 NM_002193,AC012363,CH471103,M31668,M31669,AA416873,AI659282,BC030029,BF938974,CK430845,M13437,M31682 NP_002184,AAY14801,EAW95243,AAA59451,AAH30029,AAA59169,AAA59170,P09529,Q53T31,ABM81634 Hs.1735 GDB:119347 inhibin beta-b protein-coding 733811 INHBC inhibin, beta C This gene encodes the beta C chain of inhibin, a member of the TGF-beta superfamily. This subunit forms heterodimers with beta A and beta B subunits. Inhibins and activins, also members of the TGF-beta superfamily, are hormones with opposing actions and are involved in hypothalamic, pituitary, and gonadal hormone secretion, as well as growth and differentiation of various cell types. 1580863 7826378,18413775,16627954,12960042,12651901,11237224,11134153,9428386,8838799,1646080 3626 NM_005538,AC022506,AC126614,CH471054,BC130324,BC130326 NP_005529,EAW97011,AAI30325,AAI30327,P55103 Hs.632722 GDB:632884 IHBC activin/inhibin beta c protein-coding 737308 INHBE inhibin, beta E INHBE is a member of the activin beta family (see INHBA; MIM 147290) that plays a role in pancreatic exocrine cell growth and proliferation (Hashimoto et al., 2006 [PubMed 16426570]).[supplied by OMIM] 737633,1580863 18413775,16426570,16303743,15489334,14702039,12477932,12242034 737633 83729 NM_031479,AC022506,CH471054,CQ783417,AF412024,AK075285,BC005161,BF305618 NP_113667,EAW97012,CAF86622,AAN03682,BAC11521,AAH05161,P58166 Hs.632713 MGC4638 protein-coding 1316407 INMT indolethylamine N-methyltransferase N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. 1580863 15489334,12853948,12477932,11322482,10552930,192352 11185 NM_006774,AACC02000087,AB041362,AC006022,AF128848,AF128846,AF128847,BC033813,BC103712,BC106902,BC106903 NP_006765,EAL24447,BAA94451,AAD04723,AAF18306,AAF18304,AAF18305,AAH33813,AAI03713,AAI06903,AAI06904,O95050,Q3MIB5 Hs.632629 GDB:9955162 MGC125940|MGC125941 protein-coding 1607029 INOC1 INO80 complex homolog 1 (S. cerevisiae) INOC1 is the human homolog of S. cerevisiae Ino80, the catalytic ATPase subunit of the INO80 chromatin remodeling complex (Shen et al., 2000 [PubMed 10952318]; Bakshi et al., 2004 [PubMed 15207721]). INOC1 defines a subfamily of SWI2/SNF2 chromatin remodeling proteins; see SMARCA (MIM 600014) for background information.[supplied by OMIM] 16298340,18388905,18376411,17721549,17101442,16230350,15207721,14702039,12477932,10952318,10574462 54617 AC020661,AC021753,CH471125,AB033085,AK002176,AK024777,AK026050,AK057582,AK290371,AL137280,BC012578,BC046115,BC057299,BC068054,BC105993,BC146785,BX350023,NM_017553 NP_060023,EAW92468,EAW92469,EAW92470,EAW92471,BAA86573,BAA92122,BAB14997,BAF83060,CAB70675,AAI46786,Q6N074,Q9H7A1,Q9NUK2,Q9ULG1 Hs.292949 INO80 protein-coding 1314476 INPP1 inositol polyphosphate-1-phosphatase INPP1 encodes the enzyme inositol polyphosphate-1-phosphatase, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the the phosphate group at position 1 of the inositol ring from the polyphosphates inositol 1,4-bisphosphate and inositol 1,3,4-trisphophosphate. 1580863 8390685,17570738,16787706,15489334,14702039,14671192,14574455,12477932,11901356,11812139,10780272,9682271,9599410,2225061 3628 NM_002194,AC092178,AF141325,CH471058,AK093560,BC015496,BC106006,CR456840,CR541707,CR600162,L08488 NP_002185,AAY24179,AAD46766,EAX10869,EAX10870,EAX10871,EAX10872,AAH15496,AAI06007,CAG33121,CAG46508,AAA36117,P49441,Q6IBG4 Hs.32309 GDB:204030 MGC110984 protein-coding 1353464 INPP3 inositol polyphosphate-3-phosphatase 3629 GDB:228134 68560 INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa INPP4A encodes the inositol polyphosphate 4-phosphatase type I, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. 68266,633135,1580863 7608176,18187694,15815621,15716355,15489334,15231748,14702039,12477932,11485317,10702694,10097090,9599410,9295334,9110986,16189514 68266,633135 3631 NM_004027,NM_001566,AC010134,CH471127,AF368319,AK057550,BC005082,BC028361,CR596131,U26398,U96919 NP_004018,NP_001557,AAX93230,EAX01904,EAX01905,EAX01906,EAX01907,EAX01908,EAX01909,EAX01910,AAK58870,AAH28361,AAB01068,AAB72150,Q96PE3,ABM86241 Hs.580527 GDB:228135 INPP4 inositol polyphosphate-4-phosphatase, type 1 protein-coding 734292 INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. 633135,1580863 9295334,15489334,15342556,12477932,10097090,9599410,7608176,17846126 633135 8821 NM_001101669,NM_003866,AC093860,AC093885,AC108060,AC108077,AC138657,AC139720,CH471056,AY753912,BC005273,BC005274,BC017924,BC072447,BC110918,BC133005,BP360389,BX649090,U96922 NP_001095139,NP_003857,EAX05081,AAV28485,AAH05273,AAH17924,AAH72447,AAI10919,AAI33006,AAB72153,O15327,Q2TAI2,Q5XLE7,Q9BS68 Hs.658245 GDB:9957318 MGC132014 inositol polyphosphate-4-phosphatase, type ii, 105kd protein-coding 1314631 INPP5A inositol polyphosphate-5-phosphatase, 40kDa The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. 1580863 8006039,15489334,15164054,14996095,12477932,11210186,9398266,8999861,8889548,8808294,8013665 3632 NM_005539,AF184215,AL356603,AL392043,AL451069,CH471211,AF273055,BC052265,BC062300,BC096280,BC096281,BC117515,BM467443,BM666428,CB960907,CR597084,X77567,Z31695 NP_005530,AAK13252,CAI40940,CAI40941,CAI40942,CAI40944,CAI39941,CAI39942,CAI39944,CAI39945,CAI39947,Q14642,Q149S6,Q4VAR4,Q5JSF5,Q5T1B5,Q86V83,Q8N6C1,Q9C055,CAI14120,CAI14121,CAI14123,EAW61306,EAW61307,AAM44458,AAH52265,AAH62300,AAH96280,AAH96281,AAI17516,CAA54676,CAA83500 Hs.523360,Hs.709221 GDB:228132 5PTASE|DKFZp434A1721|MGC116947|MGC116949 protein-coding 1342739 INPP5B inositol polyphosphate-5-phosphatase, 75kDa Cellular calcium signaling is controlled by the production of inositol phosphates (IPs) by phospholipase C in response to extracellular signals. The IP signaling molecules are inactivated by a family of inositol polyphosphate-5-phosphatases (5-phosphatases). This gene encodes the type II 5-phosphatase. The protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near 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. 1580863 1718960,7721860,17956944,16710414,16344560,15761153,15489334,14702039,12477932,8530037,8529643,8125013,2542294 3633 NM_005540,AJ251881,AL603790,AL929472,BX296560,CH471059,AK022846,AK093261,AL833055,BC042529,BC058932,BC062317,DA125087,M74161 NP_005531,CAH69926,CAH69927,CAH69929,CAH70076,CAH70079,EAX07307,EAX07308,EAX07309,EAX07310,EAX07311,CAH56301,AAH42529,AAH58932,AAA79207,P32019,Q5VT90 Hs.449942 GDB:129756 5PTase|MGC65156|MGC71303 protein-coding 1350841 INPP5C inositol polyphosphate-5-phosphatase, 120kDa 3634 GDB:228133 1348251 INPP5D inositol polyphosphate-5-phosphatase, 145kDa This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5' phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. Overall, the protein functions as a negative regulator of myeliod cell proliferation and survival. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 15604218,15492005,15470047,15184070,15166241,14993273,14702039,14688341,12882960,12829595,12477932,12421919,12393695,12217402,12024011,11724799,11714803,11692111,11443118,11402314,11071635,10900203,10875931,10822173,10748054,10733577,10704825,10660611,10350061,10229804,9918857,9531585,9422771,9341117,9110989,9108392,9058707,8874179,8723348,8654924,8643691,8769125,12029088,17657219,17371259,16818760,16682172,16619039,16428799,16406061,16038794,15953601,15944314,15735664 3635 NM_001017915,NM_005541,AC013726,AC108511,AC114729,AC141929,CH471063,AK023492,BC027960,BC062985,BC099920,BC113580,BC113582,BE247227,BM800110,U50040,U50041,U53470,U57650,U84400,X98429 NP_001017915,NP_005532,EAW71029,EAW71030,EAW71031,AAH62985,AAH99920,AAI13581,AAI13583,AAC50453,AAC50454,AAD00081,AAB53573,AAB49680,CAA67071,Q92835 Hs.262886,Hs.601911 GDB:1220234 MGC104855|MGC142140|MGC142142|SHIP|SHIP1|SIP-145|hp51CN protein-coding 1343997 INPP5E inositol polyphosphate-5-phosphatase, 72 kDa The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4, 5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. 1580863 10764818,15324660,12477932,10806194,15465916 56623 NM_019892,AL592301,CH471090,AF187891,AL832846,BC028032,BC110356,BE314630,U45974 NP_063945,CAI13947,EAW88233,EAW88234,EAW88235,AAF81404,AAH28032,AAI10357,AAB03215,Q2YD81,Q6PIV5,Q9NRR6 Hs.120998 GDB:9784793 MGC117201|PPI5PIV protein-coding 1314013 INPP5F inositol polyphosphate-5-phosphatase F The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants have been observed, but most of them are not thought to be protein-coding. 18281508,15146197,14702039,12805586,12477932,11274189,10231032 22876 NM_014937,NR_003251,NR_003252,AC027672,AL133461,AL158014,CH471066,AB023183,AF109361,AF113227,AI492073,AK091448,AK123633,AL137528,BC052367,BC067820,BC082755,BC111493,BF476150,CD642547,CN362016,H15412 NP_055752,CAH72973,CAH72974,CAI16957,CAI16958,EAW49379,EAW49380,EAW49381,BAA76810,AAQ13509,AAG39298,CAB70792,AAH52367,AAH67820,AAH82755,AAI11494,Q5T993,Q5W135,Q9Y2H2 Hs.369755 FLJ13081|KIAA0966|MGC131851|MGC59773|MSTP007|MSTPO47|SAC2|hSAC2 protein-coding 68580 INPPL1 inositol polyphosphate phosphatase-like 1 INPPL1 encodes inositol polyphosphate-5 phosphatase-like 1, a protein that in addition to the phosphatase domain contains an SH2 (src-homology domain 2) motif. 737755,1580863,1626127 8530088,9367831,18061583,17893231,17672824,17671700,17557929,17314030,17219406,16842970,16804414,16302969,15777721,15735664,15668240,15557176,15492005,15316017,15220217,12690104,12522270,12504111,12370370,12235291,12147234,12086927,11739414,11349134,11238900,11158326,10789675,10610720,10494849,10194451,9824312,9660833 737755,1626127 3636 NM_001567,AP000593,CH471076,BC140853,CR591731,L24444,L36818,Y14385 NP_001558,EAW74854,EAW74855,AAI40854,AAA50503,AAA96658,CAA74743,O15357 Hs.523875 GDB:569015 SHIP2 protein-coding 731056 INS insulin After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into two chains (peptide A and peptide B) that are covalently linked via two disulfide bonds. Binding of this mature form of insulin to the insulin receptor (INSR) stimulates glucose uptake. A variety of mutant alleles with changes in the coding region have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. 1625118,1625120,1625121,1625124,1580863 14986111,7556975,9388210,9773776,14739855,10604997,15194403,381941,14615391,15792832,15185208,12946932,15473891,12135947,14744991,15591776,18404969,18388898,18375961,18310307,18307789,18305020,18292987,18283260,18283256,18283245,18220656,18216377,18211635,18198311,18198306,18192540,18171712,18162506,18157793,18093308,18090240,18085551,18083784,18077505,18072146,18070774,18057381,18039812,18039179,17972051,17937736,17925406,17923791,17920639,17914103,17901401,17898179,17890489,17855560,17846745,17828388,17805200,17726611,17700581,17698984,17675047,17667841,17652220,17620332,17616349,17586504,17553505,17520407,17513702,17506723,17479246,17473382,17957153,17471492,17464100,17461431,17437081,17416760,17348446,17344504,17342078,17341563,17337306,17327454,17327422,17311896,17310371,17299081,17291451,17284223,17279313,17242212,17192483,17192475,17157312,17130532,17127405,17116217,17105729,17103462,17068290,17065334,17053071,17011566,17011062,16996478,16951936,16949073,16885156,16868061,16866381,16835468,16800793,16799400,16751187,16741735,16731859,16731532,16691379,16629714,16614815,16608900,16595598,16552513,16531418,16519889,16497805,16418171,16390390,16380501,16362283,16344925,16344718,16307231,16276008,16251897,16246845,16203862,16123374,16081366,16025839,16025255,16006430,15983206,15956745,15956217,15949705,15936461,15929679,15928253,15922332,15920061,15919610,15889096,15880482,15834700,15705917,15705595,15699505,15684637,15678496,15632182,17468256,15613433,15610006,15589123,15583859,15581831,15561961,15538935,15529622,15489334,15367890,15351621,15305767,15277396,15240646,15237706,15230641,15220214,15220197,15170498,15163889,15161800,15126243,15111508,15095040,15070567,15047631,15046555,15028719,14979729,14749349,14715866,14707040,14693412,14679083,14671204,14671189,14671163,14659752,14657411,14651526,14647005,14633852,14616883,14607844,14551916,14426955,12952878,12930990,12881524,12821730,12803245,12750767,12721156,12715715,12709672,12654724,12639765,12637980,12631734,12624089,12620428,12610512,12589110,12529491,12479880,12477932,12441313,12404181,12392301,12378388,12364457,12189018,12186542,12182905,12133430,12111440,12101177,12086926,12079889,12072386,12051853,12047362,12032154,12029093,12021212,11978629,11953210,11937112,11912547,11866509,11800057,11779865,11779231,11739440,11738155,11606170,11511079,11502799,11398136,11376336,11347740,11145591,11140838,11101842,10969839,10966857,10909971,10497219,10084601,9667398,9235985,9141561,8971927,8421693,8358440,7716547,7477119,7350438,7027261,6927840,6424111,6382002,6351842,6312455,6253909,6248962,6243748,5560404,5101771,4803504,4698555,4698553,4443293,4019786,3537011,3511099,3470784,2550426,2271664,2196279,2036420,1959628,1851182,1646635,1601997,1433291,1406615,503234,195962,15616007,15265780,16189514,15604363 1625118,1625120,1625121,1625124 3630 NG_007114,AC132217,AJ009655,AY138590,CH471158,J00265,L15440,M10039,V00565,AY899304,BC005255,BM510748,BT006808,X70508,NM_000207 NP_000198,CAA08766,AAN39451,EAX02488,EAX02489,AAA59172,AAA59179,AAA59173,CAA23828,AAW83741,AAH05255,AAP35454,CAA49913,P01308,ABM83966,ABM87282 Hs.523414 GDB:119349 protein-coding 1642400 INS-IGF2 INS-IGF2 This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. 16531418,16344560,15146197,10737800 723961 NR_003512,NM_001042376,AC130303,AC132217,AI133461,AL568676,AW878608,AW878688,AW880662,BE161581,BF205917,BF438519,BI042755,BX369936,CB988622,CN338133,DA775768,DA840311,DA851509,DA858680,DQ104204,DQ104205 NP_001035835,ABD93452,ABD93453,Q1WM24,AAI48489,AAI53084 Hs.272259,Hs.523414,Hs.700350,Hs.706973 protein-coding 1354308 INSAF insulin activator factor (insulin control element-binding transcription factor) 1580863 7935390 3637 S73205 AAB31986,Q16219 GDB:391583 protein-coding 1606091 INSC inscuteable homolog (Drosophila) In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM] 16458856,12477932,12469229 387755 NM_001031853,NM_001042536,AC090744,AB231744,AB231745,AB231746,AB231747,AB231748,AB231749,AB236158,AB236159,BC117561,BC127700 NP_001027024,NP_001036001,BAE46891,BAE17133,BAE17134,BAE17135,BAE17136,BAE46892,BAE93463,BAE93464,AAI27701,Q1MX18,Q3C1V5,AAI56333,AAI57084 Hs.591997 protein-coding 1347615 INSIG1 insulin induced gene 1 Oxysterols regulate cholesterol homeostasis through liver X receptor (LXR) and sterol regulatory element-binding protein (SREBP) mediated signaling pathway. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 16168377,9268630,18195716,18187584,17106696,17043353,16606821,16549805,15899885,15489334,15304479,15247248,15085196,14702039,14660594,12963821,12869692,12842885,12690205,12535518,12482938,12477932,12242342,12242332,12202038,12115587,16189514,15782218 3638 NM_198336,NM_005542,NM_198337,AC144438,AC144652,CH236962,CH471149,U96876,AA565248,AF086365,AK095977,AK291675,AY112745,BC001880,BI550548,BI918342,BQ059075,BT007227,CR596868 NP_938150,NP_005533,EAL23728,EAL23729,EAL23730,EAX04529,EAX04530,EAX04531,EAX04532,AAB69121,BAF84364,AAM44086,AAH01880,NP_938151,AAP35891,O15503 Hs.520819 GDB:6108060 CL-6|MGC1405 protein-coding 735428 INSIG2 insulin induced gene 2 The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. 18426866,18398047,18347269,18319320,18270535,18239574,18223638,18195716,18162505,18070740,18003761,17489846,17471297,17465681,17428920,17137505,16614226,16606821,16549805,14702039,12842885,12624180,12482938,12477932,12242332 51141 NM_016133,AC009303,CH471103,AF125392,AF527632,AK021692,AK291433,AL080184,BC022475,BX647805,CR595929 NP_057217,AAX93280,EAW95199,EAW95200,AAD43048,AAN28333,BAF84122,AAH22475,Q9Y5U4 Hs.7089 MGC26273 protein-coding 736797 INSL3 insulin-like 3 (Leydig cell) The protein encoded by this gene is an insulin like hormone produced mainly in gonadal tissues in males and females. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. It may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. The mutations in this gene may lead to, but not a frequent cause of, cryptorchidism. 1600162,1580863 8253799,8020942,18063691,17666478,17559848,17549672,17473281,17437853,17356050,17314233,17028442,17014531,16867980,16687567,16467267,16394084,16010410,15956751,15956746,15755855,15708846,15592455,15579790,15579743,15489334,15340161,15057824,14615376,12970298,12684664,12601553,12477932,12200137,12114498,11746019,11383919,11380919,11182749,11147585,11095425,10982185,10899310,10759163,10729310,10451226,10391220,9753072,9354668,8662778,8034302,8022790,8022486,7852540,7659163,7559633 1600162 3640 NM_005543,AC005952,AC007201,CH471106,X73637,AY082014,BC032810,BC040435,BC053345,BC061886,BC071706,BC106721,BC106722,BX334591,CR608936,S72482 NP_005534,AAD22740,EAW84633,EAW84634,EAW84635,EAW84636,CAA52017,AAL92559,AAH32810,AAH53345,AAH71706,AAI06722,AAI06723,AAB31371,P51460,Q6YNB5 Hs.37062 GDB:230307 MGC119818|MGC119819|RLF|RLNL insulin-like 3 protein-coding 1354230 INSL4 insulin-like 4 (placenta) INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. 1580863 8666396,8702754,18035692,15958731,15489334,15340161,15164053,12606452,12477932,12414911,9740319,9730618,9284764 3641 NM_002195,AL133547,CH471071,AK291543,BC026254,CR601901,L34838 NP_002186,CAH70506,EAW58772,BAF84232,AAH26254,AAB08516,Q14641 Hs.418506 GDB:596315 EPIL|PLACENTIN protein-coding 1350939 INSL5 insulin-like 5 The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). 1580863 15525639,15489334,15340161,12975309,12477932,10458910,8702754 10022 Q5VYD8,Q9Y5Q6 BC101648,NM_005478,AL354978,CH471059,AF133816,AY359030,BC101646 AAI01649,Q5VYD8,Q9Y5Q6,NP_005469,CAH71844,EAX06516,AAD29686,AAQ89389,AAI01647 Hs.251380 GDB:9954893 MGC126695|MGC126697|PRO182|UNQ156 protein-coding 737125 INSL6 insulin-like 6 The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. 61639,1580863 10598589,15489334,15164053,12477932,10819760 61639 11172 NM_007179,AL161450,CH471071,AF135824,AF156094,AW117587,BC126473,BC126475 NP_009110,CAD13336,EAW58773,AAF29604,AAD39003,AAI26474,AAI26476,Q9Y581 Hs.632648 GDB:9957023 RIF1 protein-coding 1319934 INSM1 insulinoma-associated 1 Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. 1580863 18205207,16569215,12890672,12079283,11854618,11842116,11780052,9245732,8188699,1634555 3642 NM_002196,AL161658,U07172,BM503821,M93119 NP_002187,CAC36065,AAA20938,AAA58680,Q01101 Hs.89584 GDB:362755 IA-1|IA1 protein-coding 1315853 INSM2 insulinoma-associated 2 1580863 14702039,12477932 84684 NM_032594,AL160231,CH471078,AB037912,AF260323,AK096639,BC130377,BC130379 NP_115983,EAW65872,BAB69042,AAK49393,BAC04830,AAI30378,AAI30380,Q96T92 Hs.62813 IA-6|mlt1 protein-coding 69029 INSR insulin receptor After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. 1302524,1300048,1302526,1625124,1302525,1302523,1580863,1299201,1580595,1302575,2290465,2290446,2290447,2290454,2290460,2290462 7559478,8276809,8440175,7537849,1986371,6849137,1607076,2859121,7693131,1898103,2986535,9092559,18455362,18048361,17965293,17957771,17925406,17914103,17855343,17854350,17577576,17563366,17563065,17556377,17475934,17434141,17416760,17348446,17344070,17340225,17325037,17275003,17229154,17221153,17201797,17102568,17078079,17001305,16962112,16946708,16831875,16814253,16806206,16761106,16510536,16473310,16382134,16314505,16137651,16127460,16084832,15951569,15938783,15862945,15799978,15745246,15738637,15715521,15708546,17374711,2460770,2369896,2365819,2280779,2211730,2210055,2168397,2121734,2040394,2002058,1993068,1971035,1963473,1956339,1890161,1730625,1657953,1648089,1644241,1607067,1563582,1472036,1373652,1331107,1324934,1321605,1321126,1315125,1314826,1304913,185872,11135668,15924147,15735664,8603569,15604363,10340378,15694368,8916919,8900242,8890729,8826975,8702728,8692915,8662806,8639568,8636294,8626379,8621530,8557631,8513978,8504096,8496180,8463311,8463287,8458533,8454633,8432414,8419945,8390949,8388389,8385099,8347587,8326490,8314008,8288049,8243830,8242067,8188715,8135823,8114715,8101305,8096518,8082780,8027066,7997262,7983039,7929343,7926007,7906861,7895674,7860063,7836419,7815442,7806540,7794689,7657032,7626603,15632081,15629149,15590636,15588985,15582274,15581831,15563471,15522217,15498182,15485753,15337529,15240646,15233842,15205474,15192089,15182363,15169905,15161766,15114529,15061947,14729945,14722023,14693412,14690593,14568990,14551916,12970295,12881524,12878213,12850828,12738810,12734206,12732844,12730241,12711007,12665574,12654724,12634852,12613967,12612081,12575209,12560330,12538626,12493740,12477932,12477518,12468540,12456798,12420346,12270939,12237775,12237455,12193537,12153558,12138094,12125099,12112020,12107746,12031977,12023989,11997497,11994298,11875066,11866509,11735220,11726652,11694516,11606564,11551902,11506178,11409918,11401470,11374898,11342531,11279102,11266508,11260230,11232039,11208515,11158333,11094073,11075717,11071852,10978177,10921922,10896916,10830280,10816433,10805733,10803466,10764799,10733238,10650943,10635327,10615944,10598578,10594240,10482988,10453981,10443650,10437794,10196204,10084586,10026153,9819414,9756945,9748281,9742218,9741627,9722981,9710204,9703342,9658397,9524259,9507031,9506989,9492017,9449692,9446569,9428692,9398630,9355745,9312016,9299395,9249867,9199575,9197239,9195949,9175790,9122188,9121430,9092546,9083103,7613486,7592607,7538143,7535775,7529876,7512963,7493946,7479769,7028018,3680248,3546306,3447155,3283938,3166375,3109943,3101064,2983222,2842060,2834824,2806055,2777789,2573522,2566545,2550426,2544998,2544997,2538124,2479553 1302524,1302526,1625124,1302525,1302523,1299201,1580595,1302575,2290465,2290446,2290447,2290454,2290460,2290462 3643 DQ333191,DQ333192,DQ333193,DQ333194,DQ333195,DQ333196,J03466,J05043,M27197,M29929,M29930,M32972,M76592,S76825,AB208861,AL365454,BC047591,BC117172,M10051,M24555,X02160,NM_000208,AC010311,AC010526,AC010606,AC125387,CH471139,DQ021481,DQ311687,DQ311689,DQ311690,NM_001079817 ABC46548,ABC46549,ABC46550,ABC46551,ABC46552,ABC46553,AAA59175,AAA59190,AAA86791,AAA59176,AAA59177,AAA59452,ABC55362,AAC37604,AAB33426,BAD92098,AAH47591,AAI17173,AAA59174,AAA59178,CAA26096,P06213,Q17RW0,Q2MKN9,Q2MKP0,Q2MKP2,Q2PJC1,Q2PJC2,Q2PJC3,Q2PJC4,Q2PJC5,Q4U0V1,Q59H98,Q86WY9,Q9UCB7,Q9UCB8,Q9UCB9,NP_001073285,NP_000199,EAW69042,EAW69043,EAW69044,EAW69045,EAW69046,EAW69047,AAY44085,ABC55359,ABC55361 Hs.465744 GDB:119352 CD220|HHF5 protein-coding 1352498 INSRL insulin receptor-like 3644 GDB:119353 1346961 INSRR insulin receptor-related receptor 1580863 10226785,17261673,16195402,15629149,14654552,10640820,10535406,10329736,8916919,7829525,7649121,2768234,2249481,1326521 3645 NM_014215,NG_007493,AL158169,CH471121,AF064078,J05046 NP_055030,CAH70009,EAW52903,EAW52904,AAC17167,AAC31759,P14616,Q5VZS3,AAI56082,AAI57045 Hs.248138 GDB:125255 IRR protein-coding 1346059 INSSA1 insulin synthesis associated 1 50607 GDB:10796189 1342587 INSSA2 insulin synthesis associated 2 50606 AW600301 GDB:10796190 protein-coding 1606801 INTS1 integrator complex subunit 1 INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16421571,16344560,15489334,14702039,12975309,12477932,10718198 26173 NM_001080453,AC093734,AC102953,CH236953,AB037861,AI935093,AK128368,AL050110,AL137358,AY358482,BC004286,BC013367,BC018777,BC069262,BF346658,BK005720,BM547069,BM553299,BX324321,CR590499,CR600617,DB113520 NP_001073922,EAL23941,EAL23942,BAA92678,BAC87402,CAB43278,CAB70710,AAQ88846,AAH04286,AAH13367,AAH18777,AAH69262,DAA05720,Q6ZRB0,Q8N201,Q9BT91 Hs.532188 DKFZp586J0619|FLJ46624|INT1|KIAA1440 protein-coding 1602701 INTS10 integrator complex subunit 10 INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 12620389,16239144,15489334,14702039,12477932 55174 NM_018142,AC107964,CH471080,AI479676,AK001431,AK092931,AL442078,BC001915,BC006209,BC051282,BK005727,BM547763,CR457262,CR598741,CR601199,CR606025 NP_060612,EAW63765,EAW63766,EAW63767,EAW63768,EAW63769,BAA91687,CAC09444,AAH01915,AAH06209,AAH51282,DAA05727,CAG33543,Q9NVR2 Hs.512627 C8orf35|FLJ10569|INT10 protein-coding 1601748 INTS12 integrator complex subunit 12 INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,15489334,12477932 57117 NM_020395,AC105391,CH471057,CS300539,AF242524,BC014442,BK005729,CR596020,CR621057,CR626660 NP_065128,EAX06189,EAX06190,CAK32203,AAF99604,AAH14442,DAA05729,Q96CB8 Hs.480454 INT12|PHF22|SBBI22 protein-coding 1606257 INTS2 integrator complex subunit 2 INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,11256614,16381901,15489336,11230166,11076863,10574462 57508 NM_020748,NG_007409,AC060798,CH471179,AB033113,AL136800,BK005721,CR533582 NP_065799,EAW51434,EAW51435,EAW51436,BAA86601,CAB66734,DAA05721,CAG38656,Q0JTA6,Q9H0H0,CAL38257 Hs.279646 INT2|KIAA1287 protein-coding 1603299 INTS3 integrator complex subunit 3 INTS3 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16710414,15489334,15302935,14702039,12477932,11483580,9373149,8125298 65123 NM_023015,AL513523,BK005722,CH471121,AF130066,AK025572,AK055174,AK074979,AK126799,AK225294,AK290025,AL080172,AL832133,BC025254,BC054513,BC073985,BC098431,BC105092,BC105094,BC116458,BX640786,BX640950,CR591900,CR623345,CR627233,CR749212,CR749376 NP_075391,CAH71415,CAH71416,CAH71417,CAH71418,DAA05722,EAW53279,EAW53280,EAW53281,EAW53282,EAW53283,AAG35494,BAB15174,BAC11329,BAF82714,CAH10398,AAH25254,AAH54513,AAH73985,AAH98431,AAI05093,AAI05095,AAI16459,CAE45876,CAE45974,CAH10366,CAH18069,CAH18229,Q5VUQ9,Q68E01,Q9H3A6 Hs.516522 C1orf193|C1orf60|DKFZp686E1950|DKFZp686O20115|DKFZp781I1253|FLJ21919|FLJ44849|INT3|RP11-216N14.2 protein-coding 1603936 INTS4 integrator complex subunit 4 INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,15489334,12477932 92105 NM_033547,AP002812,AP003032,CH471076,AF172822,AK000455,AK290866,AL834171,BC006369,BC008013,BC009859,BC009995,BC015664,BC018672,BE727962,BK005723 NP_291025,EAW75041,AAQ13616,BAF83555,AAH06369,AAH08013,AAH09859,AAH09995,AAH15664,DAA05723,Q96HW7,ABZ92084 Hs.533723 INT4|MGC16733|MST093 protein-coding 1603295 INTS5 integrator complex subunit 5 INTS5 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,15489334,15302935,14702039,12477932,11214970 80789 NM_030628,AP001458,CH471076,AB051485,AK074261,AK123587,BC028025,BC060841,BK005724,CR623757 NP_085131,EAW74051,BAB21789,AAH28025,AAH60841,DAA05724,Q6P9B9 Hs.458390 INT5|KIAA1698 protein-coding 1319842 INTS6 integrator complex subunit 6 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and located in the critical region of loss of heterozygosity (LOH). Three transcript variants encoding two different isoforms have been found for this gene. 1580863 16271964,16007164,15489334,15254679,15057823,14702039,12527901,12477932,11939413,11593297,17310990,10467397,16239144 26512 NM_012141,AF097645,AF141326,AK074946,AK096696,AK128795,AL117626,AL833524,BC013358,BC018725,BC032386,BC039829,BC040581,BC094745,BK005730,CR607963,NM_001039937,NM_001039938,AL137780,AL354820,CH471075 EAX08878,EAX08879,EAX08880,EAX08881,AAF03046,AAD39481,CAB56020,AAH13358,AAH18725,AAH32386,AAH39829,DAA05730,Q9UL03,NP_001035026,NP_001035027,NP_036273,EAX08873,EAX08874,EAX08875,EAX08876,EAX08877 Hs.439440 GDB:11504300 DBI-1|DDX26|DDX26A|DICE1|DKFZP434B105|HDB|INT6|Notchl2 protein-coding 1604023 INTS7 integrator complex subunit 7 INTS7 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16381901,15489336,15489334,14702039,12477932,11230166,11076863 25896 NM_015434,AC092814,CH471100,AK001363,AK001598,AK022509,AK022589,AL117576,AL133049,BC009918,BC020523,BC030716,BC033918,BC036009,BK005725 NP_056249,EAW93400,EAW93401,EAW93402,EAW93403,EAW93404,EAW93405,EAW93406,BAA91650,BAA91779,BAB14067,BAB14116,CAB56000,CAB61376,AAH20523,AAH30716,AAH33918,DAA05725,Q9NVH2,CAL37532 Hs.369285 C1orf73|DKFZP434B168|INT7 protein-coding 1604344 INTS8 integrator complex subunit 8 INTS8 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,17081983,15489334,14702039,12477932,9373149,8889549,8125298 55656 NM_017864,AP003692,CH471060,AB161944,AK000537,AK001403,AK091278,AK225533,BC050536,BC064915,BC099915,BC136754,BK005731,BM474137,BX538203,CA867295 NP_060334,EAW91726,BAD10863,BAA91238,BAA91671,AAH50536,AAH64915,AAI36755,DAA05731,CAD98067,Q75QN2 Hs.521693 C8orf52|FLJ20530|INT8|MGC131633 protein-coding 1603989 INTS9 integrator complex subunit 9 INTS9 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM] 16239144,16421571,15684398,15489334,14702039,12477932,10493829,9373149,8125298 55756 NM_018250,AC040975,AC131969,CH471080,U96629,AK001733,AK225072,AK225530,BC016687,BC025267,BK005674,BK005726,CR593686,CR600799,CR617525,CR625514 NP_060720,EAW63504,EAW63505,EAW63506,AAB67601,BAA91867,AAH25267,DAA05670,DAA05726,Q9NV88 Hs.162397 CPSF2L|FLJ10871|INT9|RC-74|RC74 protein-coding 1319793 INTU inturned planar cell polarity effector homolog (Drosophila) 737633,1580863 16493421,15815621,15489334,14702039,10574462,12477932 737633 27152 NM_015693,AC093591,AC097462,AC110797,CH471056,CS300683,AB033110,AK123320,AK291481,BC051698,BC130611 NP_056508,AAY41002,EAX05201,EAX05202,CAK32347,BAA86598,BAF84170,AAH51698,AAI30612,Q9ULD6 Hs.391481 FLJ41326|INT|KIAA1284|PDZD6|PDZK6 protein-coding 1604022 INVS inversin This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Two transcript variants encoding distinct isoforms have been identified for this gene. 17216245,16642442,16522655,16189514,15852005,15489334,15164053,12872123,12477932,12221118,11941489,11935322,9792867,8480178,15723066 27130 NM_014425,NM_183245,AF084382,AL137072,AL356798,AL445214,CH471105,AF039217,AF084367,AI792224,BC006370,BC041665,BC056897,BC063847,BC072429,BC111761,BC112351,CR610694 NP_055240,NP_899068,AAC79456,AAC79457,CAH72173,CAH72174,EAW58924,EAW58925,EAW58926,AAD02131,AAC79436,AAH06370,AAH41665,AAI11762,AAI12352,Q2M1I4,Q2NKL0,Q5JS85,Q9Y283 Hs.558477 GDB:11508405 INV|KIAA0573|MGC133080|MGC133081|NPH2|NPHP2 protein-coding 1348101 IOSCA infantile onset spinocerebellar ataxia (autosomal recessive) 3648 GDB:581849 1348932 IP1 incontinentia pigmenti 1 (sporadic, associated with X chromosome rearrangements) GDB:120105 1346242 IP2 incontinentia pigmenti 2 (familial, male-lethal type) GDB:120106 737355 IPMK inositol polyphosphate multikinase 1580863 15489334,14702039,12477932,12223481,12027805 253430 NM_152230,AC016396,AC026884,CH471083,AF432853,AK096839,BC016612,BC065709,BK000580 NP_689416,EAW54161,AAM97838,AAH65709,DAA01362,Q8NFU5 Hs.499690 protein-coding 1322430 IPO11 importin 11 Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM] 17353931,16189514,15489334,14702039,12975309,12767927,12477932,11809816,11032817 51194 NM_016338,AC008859,AC016637,AC114982,CH471137,AF111109,AK001696,AK023177,AK123022,AK124969,AL162083,AL705962,AY280614,AY358733,BC031694,BC033776,BC036454,BC043163,BC067275,BX649157,CR619272 NP_057422,EAW51379,EAW51380,EAW51381,EAW51382,AAF21936,BAA91843,BAC85517,BAC86010,CAB82416,AAP36706,AAQ89095,AAH31694,AAH33776,CAI46041,Q5HY91,Q6ZV53,Q7Z2Q7,Q9UI26,ABM85459,ABW03725 Hs.482269,Hs.623985 RanBP11|SLRN protein-coding 731320 IPO13 importin 13 IPO13 is a member of the importin-beta superfamily (see MIM 602738). Importins mediate translocation through nuclear pore complexes. Cooperation with the RanGTPase system allows them to bind and subsequently release their substrates on opposite sides of the nuclear envelope ensuring direct nucleocytoplasmic transport (Mingot et al., 2001 [PubMed 11447110]).[supplied by OMIM] 1580863 16189514,17828378,15489334,15143176,14702039,12477932,11447110,10745026,9872452 9670 NM_014652,AL357079,CH471059,AB018267,AF267987,AK023441,AK091565,AK290173,AL117501,BC002608,BC008194 NP_055467,CAI16798,CAI16799,EAX07072,EAX07073,BAA34444,AAF73471,BAB14575,BAF82862,CAB55966,AAH02608,AAH08194,O94829,Q5T4X3,Q6PKD4 Hs.158497 IMP13|KAP13|KIAA0724|RANBP13 protein-coding 1313095 IPO4 importin 4 1580863 17353931,11823430,16964243,16207705,15489334,14702039,12610148,12477932 79711 AL136295,CH471078,AB208897,AF411122,AK026991,AK027871,AK056527,AK056702,AK057044,AK057277,AK074743,AK094107,AK094897,AK095306,BC003690,BC110804,BC136759,BF001674,BX248267,NM_024658,CR457367,CR592033,CR598877,CR625105 NP_078934,EAW66078,EAW66079,EAW66080,EAW66081,EAW66082,EAW66083,EAW66084,EAW66085,EAW66086,EAW66087,EAW66088,BAD92134,AAL78660,BAB15616,BAB55421,BAC11174,AAH03690,AAI10805,AAI36760,CAD62595,CAG33648,Q59FI4,Q59H62,Q6I9Y8,Q8TEX9 Hs.411865 FLJ23338|Imp4|MGC131665 protein-coding 1603712 IPO5 importin 5 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. 9271386,9114010,15282309,17458142,17081983,17005651,16704975,16644122,15964792,15507604,15489334,15364420,14702039,12861017,12620808,12614157,12477932,12414950,12368302,11991713,11751052,11389849,11278458,11035935,10888652,10860744,10822175,10772949,10525473,10366569,10228156,9891055,9817747,9687515,9621063,9582382,9562972,9463369,9436978,9430704,9405152,9373149,9366553,9275210,8889548,8125298,8105392,1631159,10799599 3843 AL137120,AL356580,CH471085,AF339834,AK125031,AK225286,AL705630,BC000947,BC001497,BC019309,BC045640,NM_002271,BM666295,BU618294,BX648222,CR609014,U72761,Y08890 NP_002262,CAI13757,CAI13758,CAI13759,EAX08977,EAX08978,EAX08979,EAX08980,EAX08981,AAH00947,AAH01497,AAH19309,AAH45640,AAC51317,CAA70103,O00410,Q5T576,Q5T577,Q5T578,Q86XC7,Q9BVS9,ABM83959,ABW03556 Hs.706795 DKFZp686O1576|FLJ43041|IMB3|KPNB3|MGC2068|RANBP5 protein-coding 1321989 IPO7 importin 7 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. 1580863 9214382,18003734,17848547,16704975,15964792,15592455,15489334,15282309,12853482,12665801,12477932,12080050,11682607,10228156,10209022,9687515,17020411,14743216 10527 NM_006391,AC055845,AC132192,AJ295844,CH471064,AF098799,AK027487,AK027892,AK074908,AL137335,BC114929 NP_006382,CAC17609,EAW68591,EAW68592,EAW68593,AAC68903,CAB70698,AAI14930,O95373 Hs.699345 FLJ14581|MGC138673|RANBP7 protein-coding 1343350 IPO8 importin 8 The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. 1580863 9214382,16344560,12477932,11682607,10737800,14743216 10526 NM_006390,AC012673,AC023426,CH471094,AB209602,AK000201,AK130090,AU132276,BC018305,BF947771,BQ435282,BX953637,U77494 NP_006381,EAW96607,BAD92839,AAB67052,O15397,Q59F59 Hs.505136 FLJ26580|RANBP8 protein-coding 1321497 IPO9 importin 9 1580863 11823430,16344560,15489334,14702039,12670497,12477932,11493596,11042152,10574461,9110174,8619474,14743216 55705 NM_018085,AL513217,AL645504,CH471067,AB033018,AF070633,AF161391,AF410465,AK001264,AK027532,AK055940,AK074740,AK094276,AK124260,AL834323,BC003604,DA861528,DB232332 NP_060555,CAI17015,CAI17016,EAW91375,EAW91376,EAW91377,BAA86506,AAF28951,AAL01416,BAA91588,BAB55181,BAC11173,CAD38991,AAH03604,Q5SVH6,Q96P70,AAI56332 Hs.596014 DKFZp761M1547|FLJ10402|Imp9 protein-coding 1314841 IPP intracisternal A particle-promoted polypeptide The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. 1580863 10072760,14702039,12477932,11536049,8432546,1906605,1905535 3652 CR589949,AF156857,AK023880,BC032544,NM_005897,AL604028,BX664740,CH471059 EAX06950,EAX06951,EAX06952,AAD39007,AAH32544,Q5RGR8,Q5SWH7,Q5SWH8,Q8N5C3,Q9Y573,NP_005888 Hs.699548 GDB:132389 KLHL27 protein-coding 1322638 IPPK inositol 1,3,4,5,6-pentakisphosphate 2-kinase 12084730,15967797,15489334,15164053,14702039,12477932 64768 NM_022755,AL137074,AL157827,CH471089,AF351200,AF351201,AF351202,AF520811,AK023225,AK024267,AK096392,AK123694,BC026154 NP_073592,CAI12586,CAI12593,EAW62826,AAK69692,AAM75353,BAB14476,BAB14866,AAH26154,Q9H8X2 Hs.459896 GDB:11510690 C9orf12|FLJ13163|INSP5K2|KIAA0699|bA476B13.1 chromosome 9 open reading frame 12 protein-coding 1342539 IPW imprinted in Prader-Willi syndrome 9601023,7849716 3653 NG_002690,AC124303,U12897 Hs.555970 GDB:424490 miscrna 1349054 IQCA IQ motif containing with AAA domain 737633 15815621,15489334,14702039,12477932,9373149,8125298 737633 79781 AK054711,AK225433,BC008085,BC018494,BC028699,BC043504,NM_024726,AC019068,AC079611,AC093915,CH471063,AK026180 BAB70798,AAH28699,AAH43504,Q53SG8,Q86XH1,NP_079002,AAX93149,AAX93085,AAY24064,EAW71087,EAW71088,EAW71089,EAW71090,EAW71091,BAB15384 Hs.591594,Hs.621320,Hs.637468 4930465P12Rik|FLJ22527 protein-coding 1320759 IQCB1 IQ motif containing B1 1580863 15723066,16322217,15723349,15661758,15489334,12477932,12244321,8889548,7584028,7584026 9657 NM_001023570,NM_001023571,AC119736,CH471052,AB062481,AL042102,AY714228,AY964667,AY964668,BC005806,BG721354,BM682018,BQ068103,BX393165,CR603196,D25278 NP_001018864,NP_001018865,EAW79499,EAW79500,EAW79501,BAB93506,AAW47233,AAY46029,AAY46030,AAH05806,BAA04968,Q15051,Q3KS08,Q3KS09 Hs.604110 NPHP5|PIQ|SLSN5 iq calmodulin-binding motif containing 1 protein-coding 1343299 IQCB2P IQ motif containing B2 pseudogene 493814 1343946 IQCC IQ motif containing C 16710414,15489334,14702039,12477932,9373149,8125298 55721 NM_018134,AL049795,CH471059,AK001409,AK223272,BC029986,BC098250,BC098260,BC098317,BC098366 NP_060604,CAI22058,EAX07562,BAA91674,BAD96992,AAH98250,AAH98260,AAH98317,AAH98366,Q4KMZ1 Hs.274356 FLJ10547|MGC120341|RP4-622L5.6 protein-coding 1346446 IQCD IQ motif containing D 737633,1580863 16541075,15489334,14702039,12477932 737633 115811 NM_138451,AC089999,CH471054,AK127152,BC013151 NP_612460,EAW98043,EAW98044,EAW98045,BAC86856,AAH13151,Q96DY2 Hs.568276 4933433C09Rik protein-coding 1350439 IQCE IQ motif containing E 16381901,16344560,15489336,14702039,12477932,11076863,10470851,8889548 23288 NM_001100390,AC073462,AC092488,CH236953,CH471144,AB028946,AK092404,AL136792,AL137525,BC043150,BC052992,BC061518,NM_152558,BC071858,BM681165,CR596730,DA246430 NP_689771,NP_001093860,EAW87261,EAW87262,EAW87263,EAW87264,BAA82975,CAB66726,AAH43150,AAH61518,AAH71858,Q0JTP9,Q0JUR2,Q6IPM2,CAL37749,CAL38113 Hs.520627 1700028P05Rik|KIAA1023|MGC41907 protein-coding 1348129 IQCF1 IQ motif containing F1 737633 15489334,12477932 737633 132141 NM_152397,AC097636,CH471055,AK131018,BC029595,BC034228 NP_689610,EAW65158,AAH29595,AAH34228,Q8N6M8 Hs.671210 FLJ27508|MGC39725 protein-coding 1350039 IQCF2 IQ motif containing F2 15489334,14702039,12477932 389123 Q8IXL9 NM_203424,AC097636,CH471055,AK128883,BC040047 NP_982248,EAW65156,AAH40047,Q8IXL9 Hs.412294 MGC50809 protein-coding 1353537 IQCF3 IQ motif containing F3 14702039,12477932 401067 XM_376233,XM_942550,NM_001085479,AC097636,CH471055,AK057432,BC021188 XP_376233,XP_947643,NP_001078948,EAW65154 Hs.254808 protein-coding 1345008 IQCG IQ motif containing G 737633 15489334,14702039,12477932,11230166 737633 84223 NM_032263,AC135893,CH471252,AK021729,AK027224,AL136889,BC004816,BC016156,BC068973,CR533515,CR611369 Q9H5C8,NP_115639,EAW92246,EAW92247,BAB13881,BAB15699,CAB66823,AAH04816,CAG38546,Q9H095 Hs.591675 DKFZp434B227|FLJ11667|FLJ23571 protein-coding 1604310 IQCH IQ motif containing H 18491143,15897968,15489334,14702039,12477932 64799 NM_022784,NM_001031715,AC012568,AC016355,AC106000,AC110292,CH471082,AK022538,AK292478,AL133556,AY014282,BC031041,BC039292,BC039463,BC048964 NP_073621,NP_001026885,EAW77794,EAW77795,EAW77796,EAW77797,BAB14087,BAF85167,CAB63711,AAK27307,AAH31041,AAH39292,AAH48964,Q86VS3 Hs.657894 DKFZp434F2114|FLJ12476 protein-coding 1605141 IQCJ IQ motif containing J 17045569,14702039 654502 NM_001042705,NM_001042706,AC092997,AC107312,CH471052,DQ309553,DQ309554 NP_001036170,NP_001036171,EAW78670,ABC26018,ABC26019,Q1A5X6 Hs.570685 protein-coding 1605300 IQCK IQ motif containing K 15302935,14702039,12477932,11790298,10493829,15489334 124152 NM_153208,AC002550,AC027130,AC134300,CH471186,AF520569,AF520570,AK000122,AK093894,BC010515,BC034823,CR605335 NP_694940,AAC05807,EAW50295,EAW50296,EAW50297,EAW50298,EAW50299,EAW50300,EAW50301,AAM77339,AAM77340,AAH10515,AAH34823,Q8N0W5,Q96FR4 Hs.460217 FLJ20115|FLJ36575|MGC35048 protein-coding 1323573 IQGAP1 IQ motif containing GTPase activating protein 1 This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. 1580863 16380380,16245300,16190873,16179592,16135787,16105843,15695813,15634346,15592455,15572129,15572120,15521075,15389538,15355962,15302935,15263019,15252131,15217908,15121898,15081409,14970219,14702039,14699063,12938160,12900413,12745076,12603848,12477932,12446675,12377780,12110184,11948177,11809768,11790459,11734550,11289714,10793131,10608854,9712880,9199170,9182573,8798539,8756646,8702968,7584044,17353931,8670801,8051149,17981797,17853893,17693642,17620407,17563371,17544257,17255093,17085436,17081983,16964243,16622255,16387427 8826 NM_003870,AC018946,AC103739,CH471101,AF401205,AI924000,AK055054,AK125643,AK130574,AL110106,BC005906,BC016714,BC020549,BC037425,BC064971,BC089385,BC110811,BC139731,BC151834,D29640 NP_003861,EAX02102,EAX02103,AAL02166,AAH05906,AAH20549,AAH37425,AAH64971,AAH89385,AAI10812,AAI39732,AAI51835,BAA06123,P46940,Q05DN7,Q5FWG8,Q6P1N4,Q96PA3 Hs.430551 GDB:9784460 HUMORFA01|KIAA0051|SAR1|p195 protein-coding 1350713 IQGAP2 IQ motif containing GTPase activating protein 2 This gene encodes a member of the IQGAP family. The protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. 1580863 8756646,17957782,16344560,15621655,15458922,14743216,12665801,12515716,12376551,8702968,17353931,11554782 10788 NM_006633,AC025188,AC026706,AC026725,AC093251,AC112173,CH471084,AB208856,AK291066,AY351902,BI481276,CR601162,DB075371,U51903 NP_006624,EAW95775,EAW95776,EAW95777,BAD92093,BAF83755,AAQ81291,AAB37765,Q13576,Q59HA3 Hs.291030 GDB:9958283 protein-coding 1314286 IQGAP3 IQ motif containing GTPase activating protein 3 1580863 17244649,14702039,12477932 128239 NM_178229,AL365181,CH471121,AB105103,AK122653,AY253300,BC033549,BC131536,BG722726,BM910515 NP_839943,CAI13046,EAW52945,EAW52946,EAW52947,BAC78211,BAC85501,AAP06954,AAI31537,Q5T3H8,Q5T3H9,Q86VI3 Hs.591495 MGC10170|MGC10831|MGC1947 protein-coding 1343743 IQSEC1 IQ motif and Sec7 domain 1 18084281,16807291,16461286,15489334,15302935,12477932,11226253,9872452,9110174,8619474 9922 NM_014869,AC018836,AC069271,CH471055,AB018306,AF055004,AY653734,BC010267 NP_055684,EAW64147,EAW64148,BAA34483,AAT72063,AAH10267,Q6DN90 Hs.705421 ARFGEP100|KIAA0763 protein-coding 1353175 IQSEC2 IQ motif and Sec7 domain 2 17623647,17045249,15772651,15669143,15197169,14742722,14702039,12477932,9628581 23096 NM_015075,XM_001714411,NM_001111125,AL139396,CH471154,AB011094,AK095232,BC044252,BC108674 NP_055890,XP_001714463,NP_001104595,CAI39832,CAI39839,EAW93147,BAA25448,Q5JU85,Q5JUX1,AAI56684 Hs.496138 BRAG1|KIAA0522 protein-coding 1605175 IQSEC3 IQ motif and Sec7 domain 3 17981261,14702039,12477932,10470851 440073 NM_015232,AC026369,CH471116,AB029033,AK091953,BC024764,BC042067 NP_056047,EAW88980,EAW88981,EAW88982,EAW88983,EAW88984,BAA83062,AAH24764,Q9UPP2 Hs.536319 KIAA1110|MGC30156 protein-coding 1606694 IQUB IQ motif and ubiquitin domain containing 16189514,15489334,14702039,12477932 154865 AC073323,CH236947,CH471070,AK093153,AK093393,AK127736,BC026173,BC032838,BC036121,BC057256,BC068607,BC091520,BC128181,BC128182,NM_178827 NP_849149,EAL24336,EAW83583,EAW83584,EAW83585,BAC04074,BAC04153,AAH26173,AAH36121,AAH91520,AAI28182,AAI28183,Q8NA54 Hs.159650 FLJ35834|MGC149284|MGC149285 protein-coding 1350946 IQWD1 IQ motif and WD repeats 1 737633 17984071,16341674,15784617,15761153,14702039,12477932,12032826 737633 55827 AL033532,AL033531,CH471067,AF116725,AF124434,AF150734,AK000984,AK093970,AK226181,AL136738,AY766164,BC015957,BC025262,BM822167,BQ028917,DQ768089,NM_018442,NM_001017977,AL031287 Q58WW2,CAI22625,EAW90808,EAW90809,EAW90810,EAW90811,EAW90812,AAO15301,AAF67474,CAB66672,AAX09330,AAH25262,ABG76793,Q5THE3,Q5THE4,Q5THE6,Q9P0U0,ABM83069,ABM86263,Q5THE2,NP_060912,NP_001017977 Hs.435741 1200006M05Rik|ARCAP|MSTP055|NRIP|PC326|RP4-745I14.1 protein-coding 1348457 IRAK1 interleukin-1 receptor-associated kinase 1 This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863,1582271 8599092,11397809,16831874,10854325,10465784,12138165,14625308,16024789,18474871,18347055,18070982,18050247,17997719,17920759,17905570,17878161,17785851,17675297,17548806,17382928,17276401,17053167,16907704,16690127,16537705,16528020,16477006,16381901,16286016,16203735,16107720,16094384,16052631,15829295,15767370,15691841,15647277,15523691,15489336,15489334,15465816,15084582,15069085,14752294,14684752,12925853,12874243,12860405,12856330,12724322,12721283,12619925,12566447,12496252,12477932,12391239,12370331,12242293,12055225,12034707,11976320,11960013,11953430,11937546,11828002,11777917,11744690,11701612,11518704,11287640,11096118,11076863,10899313,10723722,10395695,10395652,10383454,10191251,9918122,9625770,9374458,9371760,9286695,8837778,15894263 1582271 3654 NM_001025243,NM_001569,NM_001025242,NG_007107,AF030876,CH471172,U52112,AF346607,BC014963,BC054000,BE276817,CR604638,CR611861,CR619624,DQ054788,L76191 NP_001020414,NP_001560,NP_001020413,AAC08756,EAW72760,EAW72761,EAW72762,EAW72763,EAW72764,EAW72765,AAK62888,AAH14963,AAH54000,AAY88246,AAC41949,P51617,Q0JTS3,Q0JVF8,Q96C06,CAL37502,CAL38089 Hs.522819 GDB:9834660 IRAK|pelle protein-coding 1312787 IRAK1BP1 interleukin-1 receptor-associated kinase 1 binding protein 1 17079333,15485901,12477932,11096118 134728 NM_001010844,AL450327,CH471051,AK098678,BC112253,BC112255 NP_001010844,CAH70883,EAW48721,AAI12254,AAI12256,Q5VVH5 Hs.656212 AIP70|MGC138458|MGC138460|SIMPL protein-coding 1319999 IRAK2 interleukin-1 receptor-associated kinase 2 IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. 1580863 9374458,10383454,12493773,17878161,15670593,15489334,11744690,11544529,10191251,9918122,12721283 3656 NM_001570,AC022384,CH471055,AF026273,AJ496794,AL538890,AL556221,BC125184,BG682610 NP_001561,EAW64069,AAB87669,CAD43180,AAI25185,O43187 Hs.449207 GDB:9834661 IRAK-2|MGC150550 protein-coding 1318853 IRAK3 interleukin-1 receptor-associated kinase 3 1580863 10383454,18156187,17982103,17558906,17503328,17379480,16437636,16432636,15728517,15489334,14592437,12721283,12477932,12054681 11213 NM_007199,AC078889,AC078927,CH471054,AF113136,BC057800,BC069388 NP_009130,EAW97164,AAD40879,AAH57800,AAH69388,Q9Y616 Hs.369265 GDB:9957421 ASRT5|IRAK-M|IRAKM protein-coding 1313252 IRAK4 interleukin-1 receptor-associated kinase 4 Interleukin-1 receptor (see IL1R; MIM 147810)-associated kinases (e.g., IRAK1; MIM 300283) are important mediators in the signal transduction of Toll-like receptor (TLR, e.g., TLR4; MIM 603030) and IL1R family members, collectively referred to as TIRs. IRAK4 functions in this signal transduction pathway.[supplied by OMIM] 1600199 16189514,12860405,16286016,15276183,14625308,16024789,18174872,17997719,17917042,17893200,17878374,17675297,17548806,17507369,17217339,17161373,17141195,17046325,16907704,16537705,16344560,16286015,15905496,15825022,15489334,15292196,15084582,14702039,12925671,12721283,12637671,12496252,12477932,12297423,11960013,11923871,10508479,3772297 1600199 51135 NM_016123,NM_001114182,AC093012,AY186092,CH471111,AF155118,AF445802,AK000528,AK027301,AY283670,AY283671,AY340962,AY340963,AY340964,AY340965,AY340966,AY340967,AY730682,BC013316,DA290809 NP_057207,NP_001107654,AAN75440,EAW57867,AAD42884,AAM15772,BAA91232,BAD12234,AAP57089,AAP57090,AAR02358,AAR02359,AAR02360,AAR02361,AAR02362,AAR02363,AAX22228,AAH13316,Q69FE1,Q69FE3,Q6ZWT8,Q7Z6A7,Q7Z6A8,Q9NWZ3,ABM83811,ABM87133 Hs.138499 GDB:11510556 IPD1|NY-REN-64|REN64 protein-coding 733858 IREB2 iron-responsive element binding protein 2 1580863 7983023,17822790,17760563,17613866,17604281,17200797,16914832,16503547,15938636,15777842,15146197,15057521,14673166,12888568,12855587,12477932,12465072,12200453,12192037,11783942,7622457,7523370,7489724,2172968,1421965 3658 AC011270,NM_004136,AC027228,CH471136,DQ496102,AB209403,AK027033,AK027034,AK292992,AL133439,BC017880,BC117481,BC117483,BX340905,CN290278,CR593632,CR610815,M58511,U20180 NP_004127,EAW99169,EAW99170,EAW99171,ABF47091,BAD92640,BAF85681,CAB62825,AAH17880,AAI17482,AAI17484,AAA69901,AAA79926,P48200,Q1HE21,Q59FQ7,Q8WVK6,Q9UF17 Hs.436031 GDB:128656 ACO3|FLJ23381|IRP2|IRP2AD iron-regulatory protein 2 protein-coding 735989 IRF1 interferon regulatory factor 1 IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. 1600013,1600014,1580863 2475256,18454680,18381204,18338947,18316378,18216101,18200030,18084608,18079498,17985330,17970693,17947510,17918184,17869652,17617740,17516545,17498560,17328074,17255955,17213842,17177148,17121613,17016442,16961714,16944293,16914093,16894313,16857162,16679314,16636311,16512786,16483648,16223733,16195814,16085646,15907481,15878912,15863386,15778351,15710386,15576464,15560761,15548708,15511228,15509808,15489334,15489234,15331704,15265939,15241475,15226432,15173018,15078941,14993214,14764039,14675396,14599866,12788988,12759449,12732645,12711307,12677441,12545159,12482935,12479817,12477932,12433281,12420214,12420205,12191570,12162881,12115600,12105194,12067985,11970993,11948194,11909852,11846974,11846972,11804954,11721695,11716756,11559933,11483597,11315919,11304541,11240951,11069564,10764778,10438822,10357819,10022868,9865487,9865486,9742224,9679752,8746784,8438156,7768900,7507207,3409321,2726461,1680796,1382447,16703666,11675348,15893730,9649509 1600013,1600014 3659 AC003959,AC116366,CH471062,DQ789232,L05072,AB103081,AB209624,BC009483,BT019755,BT019756,CR541713,CR594837,CR626580,X14454,NM_002198 Q5FBX3,Q6FHN8,Q75MZ8,ABM84195,ABM87598,NP_002189,AAB93488,EAW62332,ABH05670,AAA36043,BAD89424,BAD92861,AAH09483,AAV38560,AAV38561,CAG46514,CAA32624,P10914,Q59F37 Hs.436061 GDB:127269 IRF-1|MAR protein-coding 1312641 IRF2 interferon regulatory factor 2 IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. 1580863 7507207,8438157,18395009,17200120,16582966,15778351,15560761,15496418,15489334,15342556,15226432,14962090,12799427,12479817,12477932,12474233,11748221,11721886,11304541,11264730,11025449,10609788,10482277,10102295,10022868,9865487,9865486,9213219,8550813,8106512,7768900,7566098,2813069,2475256,11420046,16189514 3660 NM_002199,AC099343,CH471056,D14082,AA361545,BC015803,BP200998,BQ017798,BT007264,BX648934,CR457077,X15949 NP_002190,EAX04677,EAX04678,EAX04679,EAX04680,AAH15803,AAP35928,CAG33358,CAA34073,P14316,Q6IAS7 Hs.654566 GDB:127270 DKFZp686F0244|IRF-2 protein-coding 1318010 IRF2BP1 interferon regulatory factor 2 binding protein 1 17121613,14702039,12799427,12477932,11067960,9373149,8125298 26145 NM_015649,AC008623,AJ305209,CH471126,AK092407,AK223622,AL080159,AY278022,BC005834,BC038222,BC039002,BC078181,CR623029 NP_056464,CAC43219,EAW57396,BAD97342,CAB45750,AAP78943,AAH05834,AAH38222,AAH39002,AAH78181,Q8IU81 Hs.515477 DKFZP434M154 protein-coding 1603839 IRF2BP2 interferon regulatory factor 2 binding protein 2 This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 17121613,15302935,14702039,12799427,12477932 359948 NM_182972,NM_001077397,AL160408,AL161640,CH471098,AK054864,AK056930,AY278023,AY278024,BC020516,BC041989,BC053539,BC065759,BE408503,CD640986,CR600231,CR624437 NP_892017,NP_001070865,EAW69996,AAP78944,AAP78945,AAH20516,AAH65759,Q5T8B5,Q5T8B6,Q7Z5L9,AAI60054 Hs.350268,Hs.709276 MGC72189 protein-coding 1344104 IRF3 interferon regulatory factor 3 IRF3 encodes interferon regulatory factor 3, a member of the interferon regulatory transcription factor (IRF) family. IRF3 is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. 1580863 8524823,15276183,12692549,18272581,18216110,18203148,18082865,16182584,16154084,16153868,15955070,15919920,15767394,15764595,15761153,15695821,15510218,15489334,15452220,15303122,15251447,15220448,15107417,14982987,14747536,14747533,14739303,14703513,14702039,14557267,14555996,14555995,14517278,12883638,12829839,12829834,12702806,12582166,12524442,12477932,12473110,12354379,17761676,17652396,17641046,17626075,17608743,17560375,17540767,17526488,17449641,17393359,17328045,17251580,17215277,17142768,17126870,17121613,17079482,16988763,16984921,16940530,16641293,16585524,16537515,16513254,16501100,16394098,16344560,16199137,16189514,11972054,11940575,11907205,11884139,11846977,11724783,11303025,11162841,11124948,11035028,10920266,10805757,10521456,10492399,9865487,9803267,9566918,9488451,9463386,17182689,15502848,9649509,15315758 3661 AC011495,AF112181,CH471177,U86636,AB102884,AB102886,AB102887,AK057577,AK292027,NM_001571,BC000660,BC009395,BC071721,BM477213,CB961512,CR590897,CR596241,CR608119,CR613061,CR613940,CR615920,CR624964,Z56281 NP_001562,AAD05262,EAW52510,EAW52511,EAW52512,EAW52513,AAC68818,BAD89413,BAD89415,BAD89416,BAF84716,AAH00660,AAH09395,AAH71721,CAA91227,Q14653,Q5FBY1,Q5FBY2,Q5FBY4,Q71U93,Q7Z5G6,Q96GL3,ABM84381,ABM87305 Hs.75254 GDB:4573987 protein-coding 1317594 IRF4 interferon regulatory factor 4 1600211,1580863 11956291,11846984,11749693,11342629,10714679,10601358,10453013,10196196,10022840,9326949,8921401,12374808,8657101,18483556,18235046,18231914,17952075,17768115,17502719,17296585,17150500,17121613,16272311,16236719,16189514,15829558,15489334,15242870,14574404,12920225,12676954,12566414,12477932,12372320,12218129 1600211 3662 NM_002460,AL365272,AL512308,AL589962,CH471087,U52683,AK130762,AK310149,BC015752,D78261,U52682,U63738 NP_002451,CAH72537,CAH71554,EAW55056,EAW55057,EAW55058,EAW55059,EAW55060,AAH15752,BAA11335,AAC50779,AAB37258,Q15306,Q5VUI8,Q99419,ABM84398,ABM87301 Hs.401013 GDB:1297849 LSIRF|MUM1 protein-coding 1321354 IRF5 interferon regulatory factor 5 This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative splice variants encoding different isoforms exist. 1580863 18438842,18408250,18323517,18311811,18288123,18285424,18260169,18200047,18063667,18050197,17881657,17609264,17599733,17568788,17557928,17476532,17412832,17393452,17389033,17189288,17166181,17158136,17133578,17121613,16642019,15805103,15695821,15665823,15657875,15556946,15489334,15308637,14559832,12690205,12600985,12477932,12138184,11997525,11846976,11303025,9865487,16189514 3663 BC004139,BC004201,BU540632,BU950658,CR610038,DC427600,DQ277633,DQ277634,EU258895,EU258896,EU258897,EU258898,NM_002200,NM_001098630,NM_001098628,NM_032643,NM_001098631,NM_001098627,AC025594,CH236950,CH471070,EF064718,AL713733,AY504946,AY504947,AY693665,AY693666,AY693667,AY693668,NM_001098629,AY693669,U51127 AAH04139,AAH04201,ABB88960,ABB88961,ABX54712,ABX54713,ABX54714,ABX54715,NP_001092099,NP_002191,NP_001092100,NP_001092098,NP_116032,NP_001092101,NP_001092097,EAL24107,EAL24108,EAW83703,EAW83704,EAW83705,EAW83706,EAW83707,ABK41901,AAR90325,AAR90326,AAU12877,AAU12878,AAU12879,AAU12880,AAU12881,AAA96056,Q13568,Q1A7B4,Q64GA8,Q64GA9,Q64GB0,Q64GB1,Q64GB2,Q6RCM8,ABM84563,ABW03485 Hs.521181 GDB:1297850 protein-coding 1320095 IRF6 interferon regulatory factor 6 This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. This protein is involved in palate formation. 1600214,1580863 18452891,18278815,18247422,18212048,18209213,17937438,17702008,17551329,17549393,17438386,17318851,17122170,17041603,16998136,16710414,16211254,16132054,16049006,15994871,15647839,15489334,15317890,15300989,15013698,14757865,14640113,14618417,12964020,12920575,12477932,12219090,10645953,10593995,5317890,3812594 1600214 3664 NM_006147,NG_007081,AL022398,CH471100,AF027292,BC014852,BI770148,CR601385 NP_006138,CAA18545,CAI95692,EAW93438,EAW93439,AAB84111,AAH14852,O14896,Q4VY01 Hs.591415 GDB:120532,GDB:9097648 LPS|OFC6|PIT|PPS|VWS protein-coding 1317251 IRF7 interferon regulatory factor 7 IRF7 encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences of these have not yet been established. 1580863 9315633,9786932,18227218,17522209,17404045,17393359,17374731,17121613,17079482,16778376,16344560,16341674,16237059,15695821,15664995,15361868,15308637,15265881,14759258,14747533,14517278,12915551,12604599,12539042,12374802,11884139,11877397,11846980,11162841,11124948,11073981,11031102,10924517,9865487,9660935,15664159 3665 NM_001572,NM_004031,AF277159,AP006284,CH471158,AF076494,BM849172,DA601567,DA967682,NM_004029,U53830,U53831,U53832,U73036 NP_004020,NP_001563,NP_004022,AAG30003,EAX02355,EAX02356,EAX02357,EAX02358,EAX02359,EAX02360,AAC70999,AAB80686,AAB80688,AAB80690,AAB80691,AAB17190,Q92985,Q9HB64 Hs.166120 GDB:4627386 IRF-7H|IRF7A protein-coding 1351360 IRF8 interferon regulatory factor 8 Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. 1460054,8861914,18316378,18246201,18195016,17687331,17386941,17200120,17121613,16918696,16914719,16886895,16504056,16484229,15837792,15761153,15489334,15489234,15371411,12477932,11997525,10991940,10734131,10102295,10092656,9742224,7768900 3394 NM_002163,AC092723,CH471114,AA232881,AI307662,BC126247,BF110315,BG107396,BI835080,CB214983,CR599608,M91196 NP_002154,EAW95435,AAI26248,AAB63813,Q02556 Hs.137427 H-ICSBP|ICSBP|ICSBP1|IRF-8 protein-coding 1318730 IRF9 interferon regulatory factor 9 1580863 17923090,1630447,18370868,17121613,16849320,16689942,16595158,16318580,15714000,15668228,15489334,15194680,15093743,14702039,12693554,12509459,12477932,12060499,11997525,11846981,10860992,10702714,10199920,9417904,8943351,8454630,7829101,9242679 10379 NM_006084,AL136295,CH471078,G13571,BC035716,BI497082,BI919023,CR596057,CR602478,CR603020,CR609755,CR610511,CR619285,M87503,U92994 NP_006075,EAW66092,EAW66093,EAW66094,AAH35716,AAA58687,A0A962,Q00978,ABZ92221 Hs.1706 GDB:9956489 IRF-9|ISGF3|ISGF3G|p48 protein-coding 2292071 IRG1 immunoresponsive 1 homolog (mouse) 730249 XM_001133269,XM_001127275,XM_001722295,AC000403,AC001226,CH471093 XP_001133269,XP_001127275,XP_001722347,EAW80560 Hs.160789 protein-coding 1606259 IRGC immunity-related GTPase family, cinema 12477932 56269 NM_019612,AC005622,CH471126,BC033853,BC066939 NP_062558,AAC34467,EAW57221,EAW57222,AAH33853,AAH66939,Q6NXR0 Hs.515444 CINEMA|IRGC1|Iigp5|R30953_1 protein-coding 1601797 IRGM immunity-related GTPase family, M LRG47 belongs to a family of gamma-interferon (IFNG; MIM 147570)-induced GTP-binding proteins. In the mouse, these genes encode proteins of approximately 47 to 48 kD and require Ifngr1 (MIM 107470) and Stat1 (MIM 600555) for expression.[supplied by OMIM] 16888103,16277747,14576437,12477932,7561525 345611 XM_001127260,XM_293893,AC010441,BC038539,BC128167,BC128168 XP_293893,XP_001127260,AAI28168,AAI28169 Hs.519680,Hs.652148 IFI1|IRGM1|LRG-47|LRG47|MGC149263|MGC149264 protein-coding 1606733 IRGQ immunity-related GTPase family, Q 17353931 126298 NM_001007561,AC006276,CH471126,AF322648,BC137020,BC137021 NP_001007562,EAW57205,AAL33884,AAI37021,AAI37022,Q8WZA9 Hs.546476 FKSG27|IRGQ1 protein-coding 733473 IRS1 insulin receptor substrate 1 728920,1624973,1624974,1624975,1580863,1580595,1581310,1581313 7537849,7559478,7541045,16043515,8388384,9295312,11018022,1311924,8513971,1648180,12167717,18398029,18316360,18222120,18216326,18059035,17914103,17908691,17905199,17898946,17868644,17827393,17827156,17046546,17044098,17030631,17030605,17020651,16970908,17719609,17640984,17638892,17591841,17575262,17570749,17465001,17459875,17446166,17443311,17416760,17374994,17361103,17360977,17332342,17279354,17222824,17222321,17179152,17124363,17081983,17075427,17068339,17051426,16914728,16752222,16648810,16603055,16522427,16516141,16489531,16448675,16418171,16367885,16354680,16284649,16284438,16233930,16230374,16131083,16129690,16129678,16128672,16127460,16084882,16037106,16030120,16020478,15985484,15965906,15940190,15926113,15849359,15802620,15781195,15759454,15705377,15678496,15665022,15636429,15634339,11872698,11775217,11739394,11694888,11606564,11522686,11317670,11289056,11287026,11208867,11162588,11147812,11120660,11063744,11035789,11006284,10856136,10843189,10722755,10679027,10660596,10497255,10455176,10417350,10411883,10206679,9837978,9822703,9792713,9756938,9748281,9422753,9415396,9312143,9174053,9111084,8810325,8732688,8723689,8662806,15629149,15604215,15592455,15590636,15588985,15582274,15581831,15561966,15561965,15489334,15474880,15364919,15324660,15318176,15316008,15308584,15247132,15240653,15222685,15209769,15182363,15161794,15155816,15127203,15069075,15044323,15003536,15001544,14988278,14966273,14707024,14693412,14671192,14668342,14642408,14633864,14604996,14602724,14583092,14559999,12960006,12934392,12910680,12843189,12821935,12819898,12765939,12763374,12732844,12679424,12624099,12606535,12588284,12565902,12560071,12554758,12524443,12510059,12493740,12477932,12477526,12475767,12417588,12414625,12409308,12370850,12358865,12354757,12351658,12228220,12220227,12213887,12173038,12107745,12031982,12006586,11978177,11877394,11874945,8631859,8626671,8621590,8599766,8557683,8550573,8530377,8505282,8349691,8240352,8104271,8020946,7935386,7782332,7559507,7542745,7499365,7499194,7488107,1381348,15778465,9202037,10026153,8626379,8524391,8633037,7935368,11172806 728920,1624973,1624974,1624975,1580595,1581310,1581313 3667 NM_005544,AC010735,CH471063,S85963,AW469017,BC053895,S62539 NP_005535,EAW70838,EAW70839,AAB21608,AAH53895,AAB27175,P35568 Hs.471508,Hs.560737 GDB:133974 HIRS-1 2289299,2289306,2289315,2289332 BW375_H,BW373_H,BW374_H,BW376_H protein-coding 736204 IRS2 insulin receptor substrate 2 This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. 1625025,1331525,1299201,1580595,1625023,1580863 15778465,10856136,10679027,10594015,10480623,10417350,10077005,9852124,9651378,9651339,9648831,9609109,9535722,9334184,9312143,9295312,9195949,9113989,8954948,8938433,8910607,8732688,8662806,8626379,8621590,8550573,7876077,7559579,7499365,17353931,7675087,9495343,12167717,18079194,18059035,17914103,17901049,17898946,17416760,17374994,17361103,17222321,17081983,17068339,17051426,17030631,16964243,16839840,16652127,16489531,16448675,16150916,16127164,16086274,16030120,15940190,15926113,15811564,15678496,15588985,15514089,15324660,15316008,15308584,15302935,15292987,15247132,15155816,15127203,15123681,15057823,14978080,14653106,14604996,14534541,12960006,12821935,12765968,12732844,12687350,12554758,12519871,12493740,12477932,12475767,12379806,12228220,12213887,12198247,12189449,12107746,12052866,11872698,11641236,11600548,11522686,11505033,11481324,11147812,11054408,11030756 1625025,1331525,1299201,1580595,1625023 8660 AB000732,AB050954,AF074850,AF080254,AF288517,AF322114,AF322115,AF385932,AF385933,AL162497,AF073310,AF161416,BC012414,NM_003749,BC026044,BC042858,BC063516,BC110638,CA416129,CA952668,CR615148 NP_003740,BAA24500,BAB84688,AAD50546,AAD55239,AAK83053,AAG50013,AAK66750,AAK66751,CAH72369,AAD21531,AAF28976,Q8TF73,Q96RG4,Q96RG5,Q9P084,Q9UP29,Q9Y4H2 Hs.442344 GDB:9956176 1643276,1643297,1643588 BW200_H,BW204_H,GLUCO4_H protein-coding 1606062 IRS3L insulin receptor substrate 3-like 14702039,12488959,12477932,9799793 442338 NG_005538,AC069281,AF053356,CH236956 GDB:9848735 pseudo 1352224 IRS4 insulin receptor substrate 4 IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. 1580863 9261155,9553137,17408801,15870689,15331607,15324660,15316024,15155816,12774026,12732844,12639902,12052866,11912194,11316748,10594015,9614078,9609109 8471 NM_003604,AL035425,CH471120,AF007567 NP_003595,CAB90290,EAX02682,AAC51738,O14654,AAI56189,AAI56978 Hs.592215 GDB:9955223 IRS-4|PY160 protein-coding 1349465 IRX1 iroquois homeobox 1 IRX1 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM] 1580863 8889548,18421076,15489334,12477932,11435706,10370142 79192 AC016595,AY335947,CH471102,AY335938,BC029160,U90307,NM_024337 NP_077313,AAQ16553,EAX08131,AAQ16544,AAH29160,AAB50005,P78414,AAI66635 Hs.424156 GDB:11499574 IRX-5|IRXA1 protein-coding 1606345 IRX1P1 iroquois homeobox 1 pseudogene 1 646390 XR_017182,XR_019019 Hs.646653 pseudo 1346652 IRX2 iroquois homeobox 2 IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM] 1580863 18421076,16752383,12477932,11435706,10370142,15133517 153572 NM_033267,AC091891,AF319967,AY335939,CH471102,AB188492,AY335940,BC065189 NP_150366,AAK01202,AAQ16545,EAX08136,BAD37140,AAQ16546,AAH65189,Q68A19,Q9BZI1 Hs.282089 GDB:11499577 IRXA2 protein-coding 1316613 IRX3 iroquois homeobox 3 1580863 15489334,12477932,10370142 79191 NM_024336,AC018553,AY335942,CH471092,AY335943,BC023667,BC034328,U90308 NP_077312,AAQ16548,EAW82814,EAW82815,AAQ16549,AAH23667,AAH34328,AAB50006,P78415,Q8N4G7,ABM82934,ABW03467 Hs.499205 GDB:11508564 IRX-1 protein-coding 1319589 IRX4 iroquois homeobox 4 1582289,1580863 10625552,12477932,11382777,10370142 1582289 50805 NM_016358,AC025183,AY335941,CH471102,AF124733,BC110912,BC136505,U90306 NP_057442,AAQ16547,EAX08138,EAX08139,AAF23887,AAI10913,AAI36506,AAB50004,P78413,Q2NL64 Hs.196927 GDB:9993000 IRXA3|MGC131996 protein-coding 1320389 IRX5 iroquois homeobox 5 IRX5 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM] 1580863 16527195,12477932,11435706,10370142 10265 NM_005853,AC106738,AY335944,AY335945,BC074850,BC131510,U90304,U90309 NP_005844,AAQ16550,AAQ16551,AAI31511,AAB50002,AAB50007,P78411,Q6DK08 Hs.435730 GDB:9955834 IRX-2a|IRXB2 protein-coding 1344383 IRX6 iroquois homeobox 6 1580863 14702039,11435706,10370142,8889548 79190 NM_024335,AC109462,AF319966,AY335946,CH471092,AK125053,AW449920,AY335937,BC136573,BC136576,BM667197 NP_077311,AAK01201,AAQ16552,EAW82822,EAW82823,BAC86033,AAQ16543,AAI36574,AAI36577,P78412,Q9BZI2 Hs.369907 IRX-3|IRX7|IRXB3 protein-coding 1350652 ISCA1 iron-sulfur cluster assembly 1 homolog (S. cerevisiae) ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM] 15489334,15262227,15164053,14702039,12477932,9373149,9110174,8619474,8125298 81689 NM_030940,AL137849,CH471089,AA745613,AF038186,AF284752,AI436792,AK055643,AK225937,AL834356,AY015642,BC002675,BC053900,BC071621,BG772866,CR604050,CR616889 NP_112202,CAI14924,CAI14925,CAI14926,EAW62712,EAW62713,AAG59854,CAD39021,AAG40950,AAH02675,AAH71621,Q0JSB7,Q5TBE2,Q5TBE9,Q9BUE6 Hs.449291 HBLD2|ISA1|MGC4276|RP11-507D14.2|hIscA hesb like domain containing 2 protein-coding 1625835 ISCA1L iron-sulfur cluster assembly 1 homolog (S. cerevisiae)-like 389293 NM_001080540,AC025477 NP_001074009 Hs.693474 protein-coding 1319881 ISCA2 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) 15489334,12477932 122961 NM_194279,NG_007117,AC005479,CH471061,AK290728,BC015771,BC032893,BX248252,CR606164 NP_919255,EAW81179,EAW81180,BAF83417,AAH15771,AAH32893,CAD62580,Q86U28 Hs.291079 HBLD1|ISA2|c14_5557 hesb like domain containing 1 protein-coding 1607067 ISCU iron-sulfur cluster scaffold homolog (E. coli) Iron-sulfur (Fe-S) clusters are prosthetic groups found in respiratory chain complexes and numerous mitochondrial and cytosolic enzymes. Assembly of Fe-S clusters requires scaffold proteins, such as ISCU, as well as cysteine desulfurases, iron donors, and chaperones (Li et al., 2006 [PubMed 16527810]).[supplied by OMIM] 11060020,16527810,8875867,18304497,16517407,16091420,15489334,14702039,12477932,15778465 23479 BM423850,BM921073,BU602914,CR604295,CR607729,CR612054,CR621989,CR622204,EU329002,U47101,NM_213595,AC008119,CH471054,EU334585,AK000574,AK022758,AK057251,AY009127,AY009128,BC003522,BC011906,BC061903,NM_014301,BG621612 ACA34743,AAC50885,Q0JU00,Q9H1K1,ABM87293,ABW03871,NP_055116,NP_998760,EAW97818,EAW97819,EAW97820,EAW97821,EAW97822,ACA52543,AAG37427,AAG37428,AAH11906,AAH61903 Hs.615131 2310020H20Rik|ISU2|MGC74517|NIFU|NIFUN|hnifU protein-coding 1321144 ISG15 ISG15 ubiquitin-like modifier G1P2 is a ubiquitin-like protein that becomes conjugated to many cellular proteins upon activation by interferon-alpha (IFNA; MIM 147660) and -beta (IFNB; MIM 147640) (Zhao et al., 2005 [PubMed 16009940]).[supplied by OMIM] 1580863 16122702,16112642,18305167,18287095,17692280,17289916,17222803,17097911,17069755,16884686,16641915,16434471,16424026,16254333,16189514,16169070,16139798,16009940,15917233,15684817,15670748,15489334,15131269,14976209,12539042,12477932,12067988,12055236,11788588,11157743,10866800,10508226,10476939,8892645,8550581,7526157,7490683,3476954,3350799,3087979,2477469,2440890,2005397,1695131,1373138,17353931 9636 NM_005101,AL645608,CH471183,M21786,AY168648,BC009507,BT007297,M13755 NP_005092,CAI15574,EAW56295,AAA36128,AAN86983,AAH09507,AAP35961,AAA36038,P05161,Q5SVA4,ABM83640,ABW03539 Hs.458485 GDB:125866 G1P2|IFI15|UCRP interferon, alpha-inducible protein (clone ifi-15k) protein-coding 1315002 ISG20 interferon stimulated exonuclease gene 20kDa 11401564,9569007,12594219,9235947,15527770,15489334,12539042,12477932,9605874 3669 NM_002201,AC104259,CH471101,BC007922,BC016341,BT006952,CR456942,CR619922,CR625782,U88964,X89773,AB209639 NP_002192,EAX02013,AAH07922,AAH16341,AAP35598,CAG33223,AAB53416,CAA61915,Q59F22,Q96AZ6,EAX02014,EAX02015,EAX02016,BAD92876 Hs.459265 GDB:9834037 CD25|HEM45 protein-coding 1601976 ISG20L1 interferon stimulated exonuclease gene 20kDa-like 1 16171785,14702039,12477932 64782 NM_022767,AC013489,CH471101,AB209323,AF318330,AF327352,AK022546,AK022624,BC005164,BC014407,BC020988 NP_073604,EAX02009,EAX02010,EAX02011,BAD92560,AAL55837,AAL56012,BAB14091,BAB14137,AAH05164,AAH14407,AAH20988,Q59FY6,Q8WTP8,Q8WYW8,Q9H9T4 Hs.436102 AEN|FLJ12484|FLJ12562|pp12744 protein-coding 1601738 ISG20L2 interferon stimulated exonuclease gene 20kDa-like 2 18065403,16710414,16189514,15489334,14702039,12477932,12429849 81875 NM_030980,AL590666,CH471121,AK021901,AK022733,AK095697,AL096734,AY391837,BC000575 NP_112242,CAI16341,EAW52919,EAW52920,BAB14212,AAS55433,AAH00575,Q9H9L3 Hs.301904 FLJ12671 protein-coding 736062 ISL1 ISL LIM homeobox 1 This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. 7912209,15843409,18454440,18239644,18081024,17519333,17363077,17022998,16873704,16713999,16321656,15839736,15489334,15161765,12477932,11882901,11043578,10431247,9849969,9452425,9000074,8889548,8565076,7907017,7789634,1685766,16189514 3670 NM_002202,AC010478,CH471123,AK290742,BC017027,BC031213,BM680522,S70721,U07559 NP_002193,EAW54861,BAF83431,AAH31213,AAD14064,AAA81946,P61371,Q5XKJ5,ABM82484,ABM85672,ABW03420 Hs.505 GDB:376478 Isl-1 isl1 transcription factor, lim/homeodomain 1 2289466 SLEP14_H protein-coding 732662 ISL2 ISL LIM homeobox 2 1580863 17091338,15489334,15302935,14702039,12477932,9452425 64843 NM_145805,AC027243,CH471136,AK001022,BC011967,BC012136,CR610026 NP_665804,EAW99220,AAH11967,AAH12136,Q96A47,ABZ92375 Hs.444677 GDB:11506167 FLJ10160 protein-coding 1602010 ISLR immunoglobulin superfamily containing leucine-rich repeat 9325048,12975309,12477932,10512678,9373149,8125298 3671 NM_005545,NM_201526,AB024537,AC023545,CH471136,CQ783558,AB003184,AB024536,AK000817,AK074668,AK223267,AK225606,AY358871,BC022478,BC111013,CR592993,CR620951 NP_005536,NP_958934,BAA85971,EAW99357,EAW99358,CAF86725,BAA22848,BAA85970,BAD96987,AAQ89230,AAH22478,AAI11014,O14498,ABW03651,ABW03652,ABW03309 Hs.513022,Hs.699822 GDB:6297420 HsT17563|MGC102816 protein-coding 1605977 ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2 14702039,12975309,12477932,10819331 57611 NM_020851,AC010931,CH471136,AB040898,AK092297,AK092302,AK096602,AK290467,AY358316,BC028042,BC114551,BC152429 Q24JQ5,Q6UXK2,NP_065902,EAW99359,EAW99360,EAW99361,BAA95989,BAF83156,AAQ88682,AAI14552,AAI52430 Hs.254775 KIAA1465 protein-coding 1347473 ISOC1 isochorismatase domain containing 1 737633 14561759,15489334,12477932,10810093 737633 51015 NM_016048,AC008679,CH471062,AF151869,AK025787,BC008367,BC014105,BG715081,CR623281 NP_057132,EAW62386,AAD34106,AAH08367,AAH14105,Q96CN7,Q9Y3B5,ABM83152,ABM86353 Hs.483296 CGI-111 protein-coding 1350867 ISOC2 isochorismatase domain containing 2 737633 15231747,17658461,15489334,14702039,12477932 737633 79763 AC008735,AC135592,CH471135,NM_024710,AK027122,AK131324,BC017344,CR457377,CR597494,CR608760,CR609552 NP_078986,EAW72379,EAW72380,EAW72381,EAW72382,EAW72383,BAB15666,BAD18484,AAH17344,CAG33658,Q6ZN91,Q96AB3 Hs.467306 protein-coding 1605896 ISX intestine-specific homeobox Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. 18093975,12477932 91464 NM_001008494,AL024494,CH471095,Z83853,AB219123,AK025181,BC112212,BC113633,CR749372 NP_001008494,EAW60047,BAG12059,AAI12213,AAI13634,CAH18225,Q2M1V0 Hs.567637 DKFZp781N2395|MGC138417|Pix-1|RAXLX protein-coding 1606526 ISY1 ISY1 splicing factor homolog (S. cerevisiae) 16103217,15489334,14702039,12477932,11991638,10574461 57461 NM_020701,AC108673,AK024035,BC004122,BC004442,BC007409,BC019849,CR614909 NP_065752,AAH04442,AAH07409,AAH19849,Q9ULR0 Hs.512661 KIAA1160 protein-coding 1605077 ISYNA1 myo-inositol 1-phosphate synthase A1 Myoinositol, the most common naturally occurring form of inositol, is a component of plasma membrane phospholipids and functions as a cell signaling molecule. ISYNA1 (EC 5.5.1.4), or IPS, is a rate-limiting enzyme that catalyzes the de novo synthesis of myoinositol 1-phosphate from glucose 6-phosphate (Seelan et al., 2004 [PubMed 15464731]).[supplied by OMIM] 15464731,14702039,12941308,12477932 51477 NM_016368,AC008397,CH471106,AF086921,AF207640,AF220530,AK001325,AK021526,AK092179,AK092433,AK093461,AL137749,AF220259,BC004320,BC018952,BC066902,CR599696,CR600268,CR606285,CR606341 NP_057452,AAF26739,EAW84703,EAW84704,EAW84705,EAW84706,AAP97151,AAG35698,AAF26444,BAA91626,BAB13837,CAB70904,AAH04320,AAH18952,AAH66902,Q9NPH2,ABM84391,ABM87335 Hs.405873 IPS protein-coding 1343086 ITCH itchy E3 ubiquitin protein ligase homolog (mouse) Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. The protein encoded by this gene interacts with atrophin-1. This encoded protein is a closely related member of the NEDD4-like protein family. This family of proteins are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. This encoded protein contains four tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. It can act as a transcriptional corepressor of p45/NFE2 and may participate in the regulation of immune responses by modifying Notch-mediated signaling. It is highly similar to the mouse Itch protein, which has been implicated in the regulation and differentiation of erythroid and lymphoid cells. 9647693,10940313,12450395,9462742,17947233,17115028,17110928,17038327,17028573,16888620,15946939,15703212,15678106,15489334,15469925,15051726,14602072,12477932,12226085,11826757,11782481,11780052,11356981,11318614,11046148,15013426,12682059,15778465,15252135,14559117 83737 NM_031483,AL356299,CH471077,AB056663,AB209747,AF038564,AF095745,BC006848,AL109923,BC011571,DC307047 NP_113671,CAI17959,CAI17960,EAW76272,EAW76273,EAW76274,EAW76275,EAW76276,EAW76277,EAW76278,BAB39389,BAD92984,AAC04845,AAK39399,AAH06848,AAH11571,Q59ER4,Q5TEK9,Q96J02 Hs.632272 GDB:11500664 AIF4|AIP4|NAPP1|dJ468O1.1 protein-coding 735534 ITFG1 integrin alpha FG-GAP repeat containing 1 17384681,15489334,14702039,12598909,12477932 81533 NM_030790,AC007494,AC007533,AC007599,CH471092,AF212247,AF503339,AK027596,AL833705,BC006321,BC024162,CR606399,CR622193 NP_110417,EAW82698,EAW82699,AAG41782,AAN31655,BAB55220,AAH06321,AAH24162,Q8TB96,ABM84440,ABM87492 Hs.42217 CDA08|TIP hypothetical protein cda08 protein-coding 1603635 ITFG2 integrin alpha FG-GAP repeat containing 2 12477932,17353931 55846 NM_018463,AC005841,CH471116,AF220048,AK027483,AK130319,AK291110,AY599883,BC006552,BC013399,CR611942,CR616872,CR621819 NP_060933,EAW88886,EAW88887,AAF67641,BAB55145,BAF83799,AAT09136,AAH06552,AAH13399,Q6PKU5,Q969R8,Q9NZ46,ABM83637,ABM86889 Hs.446098,Hs.448720 MDS028 protein-coding 1345598 ITFG3 integrin alpha FG-GAP repeat containing 3 16381901,15489336,15489334,14702039,12477932,11230166,11157797,11076863,9054936 83986 NM_032039,AC004754,AE006462,CH471112,AK057165,AL136542,BC009214,BC010521,BC013047,BC032112,CR619764,CR623171 EAW85846,NP_114428,AAK61219,AAK61220,EAW85844,EAW85845,EAW85847,EAW85848,EAW85849,BAB71374,CAB66477,AAH10521,AAH13047,AAH32112,Q0JSJ1,Q96S31,Q9H0X4,CAL38523 Hs.513225 GDB:11504891 C16orf9|DKFZP761D0211|FLJ32603|gene +108|gs19 chromosome 16 open reading frame 9 protein-coding 69006 ITGA1 integrin, alpha 1 This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. 1302875,729264 8428973,18454440,18269595,18081024,18048918,17982677,17931993,17891451,17669516,17603494,17312461,16472776,16412752,16335952,16043429,15679046,15592458,15485856,15372022,15132990,15109703,14660600,12734939,12694973,12662928,12477932,12078857,12042322,11937138,11877061,11572855,11454259,11336656,11307375,10714390,10713152,10684262,10666376,12482545,10595787,10457223,10455165,10196235,10094488,9699516,9688542,9154536,9139675,8898357,8814241,8717325,8557756,8387021,7897185,7806264,7493648,3033641,2169872,2144294,2099238,1827128,1807406,1429908,16008586,3546305,1693624,1690718,2341567,2229189 1302875,729264 3672 NM_181501,NG_002793,AC022133,AC025180,AC026230,AC027326,BC050277,BC137121,BC137122,X68742 NP_852478,AAI37122,AAI37123,P56199 Hs.696076 GDB:131464 CD49a|VLA1 integrin alpha 1 protein-coding 1313014 ITGA10 integrin, alpha 10 Integrins are integral membrane proteins composed of an alpha chain and a beta chain, and are known to participate in cell adhesion as well as cell-surface mediated signalling. The I-domain containing alpha 10 combines with the integrin beta 1 chain (ITGB1) to form a novel collagen type II-binding integrin expressed in cartilage tissue. 1358329,1580863 9685391,16684505,12975309,11731273,10702680,9822998,9359872 1358329 8515 AF172723,NM_003637,AL160282,CH471244,AF074015,AF112345,AY358325,BC140831 NP_003628,AAF61638,EAW71424,EAW71425,AAC31952,AAF21944,AAQ88691,AAI40832,O75578,AAI60008 Hs.158237 GDB:9955529 PRO827 protein-coding 1323311 ITGA11 integrin, alpha 11 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. 1358329,1580863 10464311,10486209,17600088,16697656,15146197,14702039,12496264,12392762,11518510 1358329 22801 AF111799,AF137378,AK095863,AK292445,AL359064,BX496541,CN358985,AC021553,AC100825,CH471082,AF109681,NM_001004439 AAF01258,AAL39001,AAD51919,BAF85134,CAB94392,Q9UKX5,NP_001004439,EAW77820,EAW77821 Hs.436416 GDB:9957133 HsT18964 protein-coding 1348738 ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) This gene product belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane glycoproteins composed of a distinct alpha chain and a common beta chain. They are found on a wide variety of cell types including, T cells, fibroblasts and platelets. Integrins are involved in cell adhesion and also participate in cell-surface mediated signalling. 1581029,1582296,1582298,1582305,1582294,1582302,1582299,1582295,1582297,1582303,1582304,1582306,1582300,1582301,1580863 9391074,14681217,2933589,10201960,10942362,2545729,10778855,1763388,18362184,18231737,18057877,17890945,17855352,17728329,17669516,17638891,17630485,17598123,17538005,17534386,17498594,17495265,17408410,17346829,17331499,17312461,17264949,17196570,17184645,17179151,17164499,17160992,17157856,17127487,17092301,17070428,17036337,17023078,17003923,16972245,16908762,16905953,16882656,16875034,16828471,16820192,16732726,16697311,16634766,16622460,16573563,16513317,16421008,16390868,16380674,16357324,16344560,16341674,16317580,16304451,16263699,16214444,16157382,16140647,16113793,16055706,16043429,15978110,15978109,15947241,15892865,15847651,15777792,15730528,15699160,15647274,15630502,15546585,15522237,15514009,15355504,15355503,15350465,15342556,15304053,15292257,15265786,15240572,15227729,15205592,15146197,15132990,15104219,14746139,14701832,14687991,14679206,14671618,14563646,14556196,13679375,12928694,12915563,12871600,12871362,12791669,12788934,12724616,12717361,12690916,12681287,12657625,12615788,12544734,12540964,12529399,12499711,12486862,12482545,12412731,12392763,12372459,12208476,12181354,12082592,12082590,12073410,12071877,12070018,12042322,12038776,11978651,11958806,11856343,11835340,11812069,11809527,11776052,7901236,7861330,7545357,7503723,3546305,2156854,1693624,1690718,11775028,11728949,11698306,11572092,11568114,11555674,11472360,11395045,11359786,11359774,11323022,11307375,11246537,11238113,11169447,11030148,10944199,10918561,10744142,10737800,10666376,10465258,10429193,10397731,10381815,10339462,9813091,9812906,9789327,9746778,9731077,9688542,9676575,9632739,9509387,9461325,9402003,9353312,9281592,9223755,9211352,9198193,8889548,8387021,8276836,7994488,7916494 1581029,1582296,1582298,1582305,1582294,1582302,1582299,1582295,1582297,1582303,1582304,1582306,1582300,1582301 3673 NM_002203,AC008966,AF035968,AF062039,AF512556,CH471123,L24121,S72155,AU126174,BE048389,BF355124,BG288116,BG494837,BG771368,BM828183,BM979113,BP280760,BP381403,CA442768,CK904145,CN272390,DA343078,DA545055,X17033 NP_002194,AAC94975,AAF77577,AAM34795,EAW54872,EAW54873,AAA16619,AAD14096,CAA34894,P17301,Q16183,Q71V33,Q9NNZ2,AAI48597,AAI56716 Hs.482077 GDB:128031 BR|CD49B|GPIa|VLA-2|VLAA2 protein-coding 1349627 ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. 1580863 15067009,2439501,10429193,3607284,15842360,15748238,15730528,15701721,15701653,15678278,15634267,15630502,15355503,15316595,15227729,15226180,15219201,15205468,15166241,15134555,15131115,15121870,15099289,15056669,14675395,14671618,14597981,14525764,14521607,12938014,12911597,12871600,12871468,12871379,12871362,12860973,12827240,12799374,12736272,12730600,12724616,12719784,12668663,18399841,18383324,18331836,18317590,18316775,18316480,18211801,18174155,18064323,18057877,18041653,17954176,17922435,17872456,17767046,17763154,17728329,17721619,17714854,17644514,17635696,17630485,17615290,17561290,17538005,17495265,17488698,10605720,17468108,17414216,17346829,17337041,17332246,17320454,17160992,17138951,17032655,17018384,16923192,16905953,16895913,16879224,16879215,16877710,16825200,16822941,16806233,16773503,16716076,16636497,16573563,16487966,16469512,16359515,16357324,16335952,16324093,16322781,16248996,16228296,16115959,16102042,16051597,15978110,15976180,15917997,15890274,15886807,15863506,15847651,12637342,12609844,12586134,12511588,12506038,12477932,12446192,12426312,12424194,12411794,12408998,12399140,12393463,12388784,12297512,12200372,12181054,12140290,12083483,12071877,12049640,12042322,12038797,12031826,12023286,11994301,11964172,11918133,11858493,11812775,11798398,11776052,11728949,11719362,11698306,11606749,11583324,11575217,11487023,11467947,11460491,11367863,11359786,11341496,11260064,11260063,11204574,10772239,10607701,10391209,10212286,9920835,9809974,9809890,9789327,9763559,9736129,9734640,9722314,9473221,9288464,9215749,9030514,8704171,8663236,8631894,8620874,8612741,8400294,8282784,8132607,7878622,7706461,7688323,7559457,7520045,7508443,3801670,3534886,3479442,3422188,2845986,2775232,2476117,2444974,2351656,2350579,2345548,2322558,1953640,1737795,1702098,1639797,1429573,1375923,15075326,11238109 3674 X06831,M34480,NM_000419,AC003043,AC007722,CH471178,M22568,M22569,M33320,M34344,M54799,AB209552,AF098114,BC117443,BC126442,BE409167,BM148153,DQ841705,J02764,M18085 AAA35926,CAA29987,P08514,Q0MVN7,Q17R67,Q59FA8,Q6LDK5,NP_000410,EAW51594,EAW51595,EAW51596,EAW51597,AAA52587,AAA52588,AAA53150,AAA52598,AAA52599,BAD92789,AAC98507,AAI17444,AAI26443,ABI15196,AAA60114,AAA52597 Hs.411312 GDB:120012 CD41|CD41B|GP2B|GPIIb|GTA|HPA3 integrin, alpha 2b (platelet glycoprotein iib of iib/iiia complex, antigen cd41b) protein-coding 1321177 ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) ITGA3 encodes the integrin alpha 3 chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 3 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form an integrin that interacts with many extracellular-matrix proteins. The alpha 3 beta 1 integrin is known variously as: very late (activation) antigen 3 ('VLA-3'), very common antigen 2 ('VCA-2'), extracellular matrix receptor 1 ('ECMR1'), and galactoprotein b3 ('GAPB3'). 1358329,1580863 14676841,1655803,18384059,18224668,17997226,17888902,17630833,17498594,17481915,17475774,17265493,16785564,16732726,16731529,16707493,16571677,16537545,16510444,16475024,16459165,16390868,16373174,16344560,16339173,16307893,16273094,16103120,16055706,15983209,15919367,15878864,15805105,15677332,15361064,15351855,15346842,15302884,15280429,15254262,15194015,15181153,15109703,15024036,14706682,14702039,14666169,14662754,14645603,14612440,14607975,14602071,14596610,12919677,12887919,12717361,12699087,12615788,12477932,12452046,12445830,12397374,12372459,11988844,11936878,11907260,11884516,11853674,11679509,11387256,11358957,11344212,11327697,11307375,11278628,11165569,10994995,10929059,10906324,10852818,10811835,10801807,10734060,10694273,10684262,10487289,10094488,10082751,10065872,12480921,9950675,9809676,9733622,9704023,9402008,9360996,9360995,9350325,9223324,9111516,8889548,8757325,8407358,8187758,8006073,7591201,7545357,7542504,6593709,3033641,1714443,12775419,12119179,3546305,1693624,1690718 1358329 3675 NM_002204,NM_005501,AC002401,AC009720,CH471109,AB209658,AK091950,AK092023,AK289961,BC015344,BC043917,BC150190,BM978115,D01038,DA655978,M59911 NP_002195,NP_005492,EAW94645,EAW94646,EAW94647,EAW94648,BAD92895,BAF82650,AAH43917,AAI50191,BAA00845,AAA36120,P26006,Q59F03,Q86SW1 Hs.265829 GDB:128972 CD49C|FLJ34631|FLJ34704|GAP-B3|GAPB3|MSK18|VCA-2|VL3A|VLA3a protein-coding 1348031 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, nor undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain or beta 7 chain. 1580863 14681217,18348195,17964871,17959854,17689671,17609118,17597073,17530710,17472576,17352405,17274987,17150024,17015707,16920711,16818733,16365170,16249234,16227616,16158049,16002725,16001979,15990174,15987366,15872091,15749880,15731179,15572366,15448154,15308572,15292185,15263094,15257952,15226304,15166232,15090462,15070678,15051489,14699013,14666169,14657342,14645084,14623330,14525968,12904899,12844491,12837751,12794117,12694973,12686501,12659685,12477932,12218055,12171996,12163503,12097820,12054567,11966761,11929789,11929779,11877275,11777963,11533025,10604475,9789327,9488735,9086434,8643114,8611173,8440915,7587632,3033641,2788572,2034655,1824634,1730718,1551405,1537388,9263011,11724793,9765275,10702270,9873398,12234367,11919182,10852818,8757325,9541595,11435317,11010812,9117345,11083865,10229664,12682249,3546305,1693624,1373725 3676 AAB25486 AC020595,NM_000885,CH471058,M62841,M62842,AB208885,AJ504733,AJ508356,AJ510246,AJ510247,AJ510248,AJ510249,BC016671,BC055419,BC080190,CR608570,CR618928,L12002,X16983 P13612,Q13682,Q59H74,Q68EM9,Q6PJE7,Q7Z4L6,Q8IU66,Q8IU71,Q8IUA2,AAI46278,AAI56713,NP_000876,EAX10985,EAX10986,EAX10987,AAA51557,BAD92122,CAD43289,CAD48165,CAD53326,CAD53327,CAD53328,CAD53329,AAH16671,AAH55419,AAH80190,AAB59613,CAA34852,AAB25486 Hs.694732,Hs.711844 GDB:128032 CD49D|IA4|MGC90518 protein-coding 1351478 ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide) The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. 1580863 12174366,12138201,12115183,12081894,12067900,17498594,17490870,17482311,17472576,17406357,17359518,17300927,17286276,17133443,17027088,17012251,16959765,12042322,11937138,11893752,11877275,11852236,11801679,11741954,11555674,11479315,11462216,11158588,11149921,10982404,10888683,10871287,10848623,10713718,10626908,10397733,10091938,10082751,10072872,10065872,9916748,9864377,16940508,16920931,16818733,16756721,16569642,16547007,16457822,16430945,16344560,16341674,16005200,15987366,15983209,15881415,15757908,15737747,15728256,15699160,15684035,15509657,15500293,15489334,15389531,15331608,15187087,15100006,15090462,15051489,14998999,14970227,14684825,14610084,14596610,12970173,12871973,12865438,12807887,12799374,12682293,12639965,12595495,12486108,12477932,12359771,12220988,2454952,11919189,17664272,17624082,17596295,9790314,9789327,9509387,9361020,9314546,9238676,9223324,9211865,8980606,8757349,8658014,8599839,8562338,8537347,8387021,8034133,7861330,7690138,7592829,7542116,7539135,7532190,7504269,3033641,2958481,2944883,2846588,2450560,2202737,1834647,1694173,1693626,15028619,11877390,16189514,12868002,3546305,1693624,1690718,9809676 3678 AC079313,CH471054,AK291570,AU133210,AY429549,BC008786,BM787112,BX647780,CR598441,M13918,X06256,NM_002205 NP_002196,EAW96780,EAW96781,EAW96782,BAF84259,AAH08786,AAA52467,CAA29601,P08648,ABM83616,ABW03523 Hs.505654 GDB:119915 CD49e|FNRA|VLA5A protein-coding 731429 ITGA6 integrin, alpha 6 The ITGA6 protein product is the integrin alpha chain alpha 6. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. For example, alpha 6 may combine with beta 4 in the integrin referred to as TSP180, or with beta 1 in the integrin VLA-6. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Two transcript variants encoding different isoforms have been found for this gene. 1358329,1600016,1302259,1580863 9185503,18155160,17979890,17935134,17652716,17475774,17332515,17303120,17085437,16973601,16965770,16940506,16870608,16732726,16571677,16537545,16504015,16436605,16424229,16344560,16339173,16263699,7556090,2649503,2542022,2070796,1976638,1946438,1476731,2138612,1693624,2967289,1690718,16258729,16228294,15983209,15897878,15885076,15679046,15579904,15557282,15361064,15302884,15194479,15161909,14707725,14607975,14602071,14517202,12931024,12919677,12909644,12826661,12791251,12499048,12477932,12429829,12397374,12364323,12105188,12033289,11988844,11959811,11884516,11861761,11852236,11809527,11739652,11728829,11684709,11479315,11389095,11359780,11251584,11238109,10811835,10713718,10711425,10671376,10657249,10525545,10477615,10094488,9660880,9500991,9425259,9360996,9360995,9158140,8838570,8757325,8496190,8360143,8253814,8163531,7681434,7629079,7583007 1358329,1600016,1302259 3655 NM_000210,NM_001079818,AC078883,AF166343,CH471058,S52135,AB208842,BC007002,BC050585,BC136455,BC136456,DA760250,DQ858220,S66196,S66213,X53586,X59512 NP_000201,NP_001073286,AAX93133,AAD48469,EAX11175,EAX11176,EAX11177,AAB24829,BAD92079,AAH50585,AAI36456,AAI36457,ABH11650,AAB20354,AAB20355,CAA37655,CAA42099,P23229,Q0MRC7,Q53RX7,Q59HB7,Q86VL6,Q9UCT1 Hs.133397 GDB:128027 CD49f|ITGA6B|VLA-6 protein-coding 734343 ITGA7 integrin, alpha 7 ITGA7 encodes integrin alpha chain 7. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 7 undergoes post-translational cleavage within the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to form an integrin that binds to the extracellular matrix protein laminin-1. Alpha 7 beta 1 is the major integrin complex expressed in differentiated muscle cells. Splice variants of alpha 7 that differ in both the extracellular and cytoplasmic domains exist in the mouse; however, to date only a single human transcript type has been isolated: it contains extracellular and cytoplasmic domains corresponding to the mouse X2 and B variants, respectively. A unique extracellular splice variant has been identified in human, although it clearly represents a minor species and its biological significance is unclear. 1600024,1600025,1580863,70774 9354797,9590299,17641293,17618648,17551147,17054947,16289162,15340161,15117962,14702039,12975309,12941630,12477932,12057917,11884516,11361006,10910772,10906324,10694445,10459022,10403775,9570924,9473524,9402008,9352853,9307969,8626012,8253814,8126096,7607681,1839357,1315319 1600024,1600025,70774 3679 NM_002206,AC009779,AJ228836,X74295,CH471054,AB210036,AF032108,AF034833,AF052050,AF072132,AK022548,AK057949,AY358882,BC047907,BC050280 NP_002197,CAB41534,AAH50280,CAA52348,Q13683,Q4LE35,Q86W93,CAB41535,EAW96819,EAW96820,EAW96821,EAW96822,EAW96823,BAE06118,AAC39708,AAB87696,AAC18968,AAC80458,AAQ89241 Hs.524484,Hs.639559 GDB:131465 FLJ25220 integrin alpha 7 protein-coding 736147 ITGA8 integrin, alpha 8 1580863,633055 7768999,15592496,15579315,18277079,15164054,12787402,12415008,12060755,11668187,11470831,10742111,10504498,7559467,9548928 633055 8516 NM_003638,AL359645,AL590636,AY371697,CH471072,L36531 NP_003629,CAH73424,CAI14955,AAQ56848,EAW86235,AAA93514,P53708,AAI48353 Hs.171311 GDB:9955532 integrin alpha 8 protein-coding 1322518 ITGA9 integrin, alpha 9 This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. 1358329,1580863 8245132,16430945,16005200,15590642,15479742,15247268,12477932,11882657,11598204,11462216,10593924,8381220,8290272,8798654 1358329 3680 NM_002207,AC092055,AC093415,AP006240,CH471055,AK026826,AK123884,BC030198,BX647350,D25303,L24158 NP_002198,EAW64501,AAH30198,BAA04984,AAA16099,Q13797,Q8N6H6 Hs.113157 GDB:355564 ALPHA-RLC|ITGA4L|RLC protein-coding 731798 ITGAD integrin, alpha D 1358329,1580863 9841932,15561714,14702039,12429998,10722744,10438935,9598326,8777714,8666289 1358329 3681 NM_005353,AC026471,AC093520,AF187881,CH471192,U40274,U40275,U40276,U40277,U40279,AB208945,AK097160,U37028 NP_005344,AAF62875,EAW52139,AAB60634,AAB60635,AAB60636,AAB60637,AAB60638,BAD92182,BAC04967,AAB38547,Q13349,Q59H14,Q8N882,AAI56096 Hs.679163 GDB:6185973 ADB2|CD11D|FLJ39841 integrin alpha x protein-coding 1346113 ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. 1580863 8119947,18182176,17325197,16920912,16216886,16177076,15489334,15196058,14532999,12477932,12414996,12370249,11311556,10978890,10837471,10790430,10673275,9765275,9676575,8580465,8526015,7614974,3498635,1542691,12434297 3682 AF168787,CH471108,AF289864,BC113436,BC117207,CD368046,L25851,AC116914,NM_002208 AAF43107,EAW90480,AAI13437,AAI17208,AAB59359,P38570,NP_002199 Hs.513867 GDB:330801 CD103|HUMINAE|MGC141996 protein-coding 1352170 ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12845325,15728350,8103515,10477596,11857637,18195072,18156711,18079697,17913807,17785425,17673459,17591777,17486117,17468108,17430469,17078873,17045822,17038526,16963559,16920795,16918410,16855029,16705652,16622014,16505487,16492228,16472601,16301335,16249234,16207819,16100282,16038038,15983060,15958383,15946252,15851656,15834409,15730520,15693793,15611342,15356110,15308572,15240749,15208262,15113754,14722085,14695458,14688105,14676297,12855590,12847234,12815062,12694184,12616499,12516552,12477932,12392323,12368450,12207338,12202941,12171996,12163503,12163056,12139949,12117984,12036881,12020947,11953106,11929876,11882033,11867690,11812992,11792712,11786177,11353828,10493852,10493829,9789327,9743356,9676575,8995416,8805579,8099450,8097887,16037628,16002691,7691868,7576051,7542116,7479767,3301632,3284962,2894392,2537322,1762294,7917519,15183063,9341793,8450224,7904170,2543075,1967280,1757107,9263011,8086129,16189514,1702722 3683 NM_002209,NM_001114380,AC002310,AC116348,CH471192,DQ131904,M95609,Z22804,AK314246,BC008777,CA430398,DC324373,Y00796 NP_002200,NP_001107852,AAC31672,EAW52243,EAW52244,EAW52245,AAZ38713,AAA16474,CAA80461,BAG36913,AAH08777,CAA68747,P20701,Q96HB1 Hs.174103 GDB:119757 CD11A|LFA-1|LFA1A protein-coding 1343608 ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Some integrin alpha M proteins contain an inserted amino acid (Q, between AA positions 499 and 500) resulting from a 3bp shift in a splice acceptor that inserts the codon CAG; receptors with or without the extra amino acid are functionally indistinguishable 1580863 2563162,18204448,18204446,18204098,18164590,18156711,18096476,17927697,17721605,17445870,17372166,17346796,17228360,17202407,17202372,17172930,16915040,16782049,16614246,16508260,16389569,16357311,16260637,16249234,16239529,16037628,15976367,15778383,15741160,15730520,15718918,15641787,15615722,15585684,15489334,15485828,15454120,15304494,15294914,15277376,15217824,15073035,14769799,14751053,14532278,12960243,12847278,12816955,12760968,12731070,12694184,12665127,12600815,12576754,12516552,12495676,12485936,12477932,12466503,12444150,12393719,12393547,12390020,15004192,12377763,12244179,12234260,12208882,12165526,12145463,12107753,12042322,12036876,12009501,11967116,11953106,11941318,11937770,11893077,11881155,11843895,11701612,11073102,10946284,10899906,10846180,10748078,10744708,10352278,9844058,9712878,9687375,9569238,9560195,9558116,12377937,9211902,9175709,9142045,8747460,8573344,8458080,8419480,7867070,4062888,3539202,3284962,2833753,2457584,2454931,1683702,1346576,1967280,12682255,9488691 3684 NM_000632,AC093520,CH471192,M76724,M84477,S52227,AA436312,AK057856,AK127637,AY187247,AY187248,BC096346,BC096347,BC096348,BC099660,J03925,J04145,M18044 NP_000623,EAW52143,EAW52144,AAA58410,AAA51960,AAB24821,AAH96346,AAH96347,AAH96348,AAH99660,AAA59544,AAA59903,AAA59491,P11215,Q4VAK1,Q4VAK2 Hs.172631 GDB:120599 CD11B|CR3A|MAC-1|MAC1A|MGC117044|MO1A integrin, alpha m (complement component receptor 3, alpha; also known as cd11b (p170), macrophage antigen alpha polypeptide) protein-coding 1321618 ITGAV integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) ITAGV encodes integrin alpha chain V. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The I-domain containing integrin alpha V undergoes post-translational cleavage to yield disulfide-linked heavy and light chains, that combine with multiple integrin beta chains to form different integrins. Among the known associating beta chains (beta chains 1,3,5,6, and 8; 'ITGB1', 'ITGB3', 'ITGB5', 'ITGB6', and 'ITGB8'), each can interact with extracellular matrix ligands; the alpha V beta 3 integrin, perhaps the most studied of these, is referred to as the Vitronectin receptor (VNR). In addition to adhesion, many integrins are known to facilitate signal transduction. 1358329,1582453,1582446,1582450,1582452,1582449,1582447,1582461,1625134,1582458,1580863,1627651,1627644,1627640,1627642 11877390,2430295,18349127,18310319,18211678,18191107,18090124,18084301,18079201,18062611,18045938,17879163,17641225,17621633,17615072,17550972,17483236,17446174,17408468,17369840,17275949,17175151,17158881,17034033,16973584,16877343,16835373,16818691,16790523,16731529,16702213,16675963,16672769,16631833,16631740,16614246,16496302,16448724,16407244,16400188,16385340,16186116,16150802,16105876,16100012,16099422,16024014,16005200,15998788,15921657,15914035,15897908,15866865,15834425,15828940,15815621,15795319,15695828,15647827,15638730,15609323,15557124,15509546,15489334,15361064,15299032,15269586,15194773,15051489,15044441,14966135,14766759,14741360,14666169,14596610,14524530,12917446,12902636,12893184,12875973,12874388,12807887,12765524,12754519,12750158,12695522,12691260,12682293,12660257,12645863,12642872,12639965,12553378,12486108,12477932,12427871,12399420,12384999,12372811,12372469,12370491,12364323,12358597,12356872,12324470,12324452,12270930,12237321,12237112,12210725,12198771,12196561,12193380,12177807,12168086,12161360,17331499,17300927,12143051,12082152,12063036,12042322,12031826,11988838,11970960,11959660,11953315,11934894,11884718,11882657,11872628,11858476,11848444,11821050,11741954,11724803,11706074,11683411,11577104,11546839,11435317,11331301,11287419,11278329,11162558,11134507,10965141,10871287,10837460,10835423,10821835,10749942,10715259,10549293,10545994,10537314,10438928,10397733,10037797,9916748,9813179,9789327,9686320,9626063,9517988,9256940,9251239,9133434,9108459,8757349,8599839,8294396,8034133,7690138,7689573,7682219,11927607,7678549,7545239,7539135,7522056,2478219,2467745,2454952,2450560,2443500,2202737,2138612,1918072,1694173,1690718,1532572,12083833,16166568,12459484,8798654,1693624,15700281 1358329,1582453,1582446,1582450,1582452,1582449,1582447,1582461,1625134,1582458,1627651,1627644,1627640,1627642 3685 NM_002210,AC017101,AF251818,AF251819,AF251820,AF251821,AF251822,AF251823,AF251824,AF251825,AF251826,AF251827,AF251828,AF251829,AF251830,AF251831,AF251832,AF251833,AF251834,AF251835,AF251836,AF251837,AF251838,AF251839,AF251840,AF251841,CH471058,U07375,AB209894,BC047454,BC072686,BC126231,BC136442,BQ129340,EF560727,M14648,N83286 NP_002201,AAY24257,AAG03000,EAX10933,EAX10934,AAA61631,BAD93131,AAI26232,AAI36443,ABQ59037,AAA36808,P06756 Hs.436873 GDB:120491 CD51|DKFZp686A08142|MSK8|VNRA protein-coding 1350525 ITGAW integrin, alpha W 3686 GDB:572839 1348968 ITGAX integrin, alpha X (complement component 3 receptor 4 subunit) This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. 1580863 15900581,15730520,15665082,15489334,14702039,12576324,12477932,12351396,12208882,12100475,12083416,11937543,2303426,3327687,18204098,18047418,17726260,17726152,17045822,16716806,16037628,11845978,11840270,11799095,11460493,11369639,11174197,9885225,9598326,9473377,9250811,9176697,8645576,8598231,8573344,8045597,7621072,7512600,3549901,3284962,1976870,1967280,16189514 3687 NM_000887,AC093520,CH471192,L19440,M29482,M29483,M29484,M29485,M29486,M29487,AK074047,AW014280,BC037577,BC038237,BM149283,CA308944,M81695 NP_000878,EAW52140,EAW52141,EAW52142,AAA35661,AAA51620,BAB84873,AAH38237,AAA59180,P20702,Q6LED2,Q8TES5,ABM83412,ABM86623 Hs.248472 GDB:119758 CD11C integrin, alpha x (antigen cd11c (p150), alpha polypeptide) protein-coding 736631 ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. 1625134,1302874,633055 16213489,16195423,16157583,16148152,16113793,16105875,16103120,16099422,16076904,16055706,16055535,16043429,16005200,16002725,15987639,15983209,15978110,15978109,15961545,15949469,15947241,15919367,15905178,15881415,15878864,15872091,15805105,15795318,15777792,15757908,15737747,15731179,15713750,15699160,12364323,12221126,12218055,12209735,12200131,12181354,12181350,12174366,12171996,12163503,12140560,12138201,12138200,12118253,12097820,12091396,12070135,12054567,12020426,11996105,11989791,11981820,11980922,11967148,11941451,11934885,11932920,11931654,11918217,11914080,11909975,11907260,11893752,11884618,11884516,11882657,11861761,11807098,11805102,11779688,11776052,11775028,11751905,11741908,11728829,11716783,11668187,11553610,11507094,11462216,11435317,11387256,11358957,11313964,11309411,11279249,11278628,11238109,11230166,11208159,11149921,11076863,11010812,10944520,10944199,10906324,10852818,10811835,10804218,10741407,10734060,10694273,10684262,10623819,10613898,10593924,10506186,10486209,14681217,9552005,11919189,10201960,11256614,9415431,18383324,18310319,18250451,18155697,18057877,18054915,18048918,18037995,18032709,17997226,17991734,17968567,17960115,17901052,17888902,17760843,17726369,17706641,17671519,17664272,17638891,17634906,17630833,17609118,17603494,17597073,17573778,17560548,17538005,17530710,17521731,17514628,17498594,14675422,14671618,14666169,14662754,14645603,14633626,14623330,14612932,14612440,14610084,14607975,14602071,14563646,14562042,14550305,14532964,14525968,14522909,14512423,14502569,12970173,12969374,12954625,12947314,12941630,12931024,17490870,17481915,17469136,17408410,17407140,17380111,17371832,17352405,17331499,17318179,17312461,17311314,17300927,17286276,17186162,17141917,17110618,17081065,17060328,17015707,17012251,16984420,16972245,16940508,16920931,16916750,16908762,16908668,16882656,16820945,16807379,16773720,16762342,16732726,16731529,16707493,16705158,15684035,12919677,12918102,12915563,12909644,12907437,12904899,12893831,12893184,12883474,12871973,12865438,12844491,12826661,12807887,12803239,12799374,12791669,12788934,12699087,12695522,12694355,12682293,12681287,12662928,12639965,12637511,12606711,12595495,12578911,12574205,12517798,12514714,12509413,12500944,12496264,12486108,12480921,12477932,12456677,12445830,12427871,12411441,12397575,12397374,12393420,12392763,12376466,12372459,12372334,16569430,16547500,16547007,16537545,16510444,16504015,16501085,16459165,16457822,16448724,16430945,16421008,16415171,16390868,16385340,16381901,16373174,16365170,16363250,16357324,16344560,16341674,16335952,16301336,16258728,16247454,16228294,15677332,15647827,15647274,15645131,15633218,15590642,15583842,15572366,15567743,15539082,15522237,15514009,15509657,15507484,15500293,15489336,15485856,15466867,15389531,15304053,15302884,15292257,15292185,15280429,15276642,15276495,15677455,15265786,15256055,15254262,15247268,15240572,15226304,15181153,15171717,15166232,15158122,15117962,15100006,15090462,15070678,15024036,14998999,14983010,14970227,14766759,14722085,14699139,14699013,14679206,14676841,10459022,10397733,10397731,10229664,10209034,10065872,9916748,9914169,9889149,9813091,9812906,9736715,9722563,9688542,9686320,9685391,9565552,9517988,9501082,9494094,9442085,9431988,9425259,9360996,9360995,9295027,9281592,9281591,9117345,8889548,8838570,8831898,8757599,8757349,8757325,8649427,8630057,8538749,8537347,8444890,8428973,8387021,8245132,8163531,7768999,7690138,7681433,7657702,7545396,7544298,7539135,7523423,7504269,3546305,2958481,2572537,2527614,2524991,2249781,2202737,2138612,2116421,1693624,1690718,1551917,12639940,16189514,7559467,8798654,2967289,2649503,10464311,15611085,15156152 1625134,1302874,633055 3688 NM_033667,NM_033669,NM_033668,NM_133376,NM_033666,AL365203,CH471072,U33879,U33880,U33882,X68969,AF086249,AI261443,AK291697,AL710802,BC020057,BC113901,BM791591,BM973433,NM_002211,BX537407,CR618169,CX868374,CX871886,DA600874,DB063946,DB292597,M34189,M84237,U28252,X07979 CAL38075,ABM81995,ABM85177,NP_002202,NP_391987,NP_391989,NP_391988,NP_596867,NP_389647,CAI14426,CAI14427,CAI14428,CAI14429,EAW85948,EAW85949,EAW85950,EAW85951,EAW85952,EAW85953,EAW85954,EAW85955,EAW85956,EAW85957,EAW85958,EAW85959,EAW85960,AAA79832,AAA79833,AAA79834,AAA79835,BAF84386,AAH20057,AAI13902,CAD97649,AAA59182,AAA74402,AAA74403,AAA81366,CAA30790,P05556,Q0JTT7,Q29RW2,Q5T3E4,Q5T3E5,Q5T3E6,Q7Z3V1,Q8WUM6 Hs.643813,Hs.660147 GDB:118732 CD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLAB integrin beta 1 protein-coding 1317220 ITGB1BP1 integrin beta 1 binding protein 1 The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. 1580863 9281591,11919189,9813144,17133355,16741948,16344560,16341674,15703214,15489334,15166238,14759258,14702039,12477932,11854171,11741908,11741838,10827173,9110174,8619474,16189514 9270 NM_004763,AC080162,CH471053,AF012023,AF012024,AK092115,AK093179,AK094221,AK289817,BC012264,BG032225,BM823938,NM_022334,BQ425555,BX647099,CR457006,CR593803,CR604571,DA751320 NP_071729,NP_004754,AAY14857,EAX00991,EAX00992,EAX00993,EAX00994,EAX00995,EAX00996,EAX00997,EAX00998,EAX00999,EAX01000,EAX01001,AAB88671,AAB88672,BAF82506,AAH12264,CAG33287,O14713,Q53RS0,Q6IAZ8,ABM85411,ABW03723 Hs.467662 DKFZp686K08158|ICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B protein-coding 1350069 ITGB1BP2 integrin beta 1 binding protein (melusin) 2 1582491,1580863 10506186,12514714,12477932,11997396,9388239 1582491 26548 NM_012278,AL590762,CH471132,AF110225,AF140690,BC108901 NP_036410,EAX05296,EAX05297,AAL36913,AAF01676,AAI08902,Q32N04,Q9UKP3 Hs.109999 GDB:10796236 CHORDC3|ITGB1BP|MELUSIN|MGC119214|MSTP015 protein-coding 1344874 ITGB1BP3 integrin beta 1 binding protein 3 1580863 12809483,15489334,15137942,14702039,12941630,12477932,10613898,8889548 27231 NM_170678,AC011488,CH471139,AF190819,AK001663,AK022514,AL365377,AY611481,BC093637,BC101575,BM669267 NP_733778,EAW69277,EAW69278,EAW69279,AAF26711,BAA91820,BAB14071,CAB96949,AAT11929,AAH93637,AAI01576,Q9NPI5 Hs.135458 MGC126624|MIBP|NRK2 protein-coding 1313694 ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) The product of this gene belongs to the integrin beta chain family of proteins. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. This gene encodes the integrin beta chain beta 2. A given chain may combine with multiple partners resulting in different integrins. For example, beta 2 combines with the alpha L chain to form the integrin LFA-1, and combines with the alpha M chain to form the integrin Mac-1. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. Defects in this gene are the cause of leukocyte adhesion deficiency type I (LAD1). Two transcript variants encoding the same protein have been identified for this gene. 1581183,1581184,1581185,1600220,1580863,1358329 12885943,1694220,11857637,18369341,18306933,18279666,18199704,18191791,18164590,18076013,18057877,18032709,17900957,17875809,17726152,17721605,17719638,17716608,17676580,17673459,17644514,17635865,17591777,17531998,17522381,17468108,17346796,17311314,17222807,17107954,17016617,16915040,16901728,16846215,16782049,16774752,16764927,16506060,16505487,16492228,16467205,16415171,16403785,16344560,14512306,13679375,12960243,12952972,12885870,12878157,12847278,12824186,12816955,12771186,12760968,12731070,12694184,12682249,12676940,12643440,12617168,12600815,12576754,12529399,12516552,12477932,12444150,12393547,12390020,12379807,12377941,12377937,12377933,12377763,12368274,12324470,12244179,12207338,12200369,12183834,12171996,12163503,12145463,12139949,12097820,12082592,12056825,16335952,16239529,16037628,15965234,15958383,15802551,15741160,15665082,15641787,15615722,15558232,15489334,15485828,15454120,15328156,15304494,15294914,15258348,15241561,15235127,15187162,15181567,15090462,14769799,14748512,14722085,14702343,14702039,14676297,14576361,12055249,12050191,11986332,11967116,11953106,11937543,11935032,11931654,11922836,11914080,11896403,11882363,11843895,11838958,11831866,11823004,11818440,11781316,11753075,11751951,11745332,11714770,11703955,11700305,11544294,11477072,11353828,11279101,10961871,10906324,10846180,10845911,10835351,10830953,10766246,10712675,10602019,10591186,9884339,9786897,9736715,9442085,9373149,8995416,8757599,8649427,8568270,8125298,7822326,7686755,7642561,7621072,7514637,3594570,3305706,3073708,3028646,2954816,2454931,2150484,1968911,1683838,1674496,1590804,1352501,1347532,1346613,8558011,1967280,11707406,10388537,16189514,8777714,9765275 1581183,1581184,1581185,1600220,1358329 3689 Y00057,NM_000211,NG_007270,NM_001127491,AF016894,AL163300,AL773603,AL844907,CH471079,X64072,AB208909,AK095992,AK097216,AK097864,AK128344,AK222505,AU279404,BC005861,BC021077,CR606739,CR621205,CR624713,DA200537,L78790,M15395,S81234 CAA68266,P05107,Q53HS5,Q59H50,Q6PJ75,Q8N1L0,Q8WWJ8,Q96PT7,Q9UD72,ABM83610,ABM86853,NP_000202,NP_001120963,AAL14027,CAB90553,EAX09381,EAX09382,EAX09383,EAX09384,EAX09385,CAA45427,BAD92146,BAC05188,BAD96225,AAH05861,AAH21077,AAL40068,AAA59490,AAB21404 Hs.375957 GDB:120574 CD18|LAD|LCAMB|LFA-1|MAC-1|MF17|MFI7 integrin, beta 2 (antigen cd18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) protein-coding 1345363 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. 1580496,1625134,1580863,1580489 11606749,1438206,2452834,10429193,3607284,10605720,18399841,18396070,18383324,18343248,18331836,18317590,18316775,18312855,18310319,18260892,18230083,18214290,18211801,18208809,18200665,18191725,18174155,18162078,18160589,18160561,18156175,18084301,18067652,18065693,18064323,18062611,18057877,18056258,18045938,18045240,18041653,18035074,18031296,18021403,17959856,17957566,17954176,17928472,17912026,17907177,17855352,17827388,17763154,17728329,17714854,17679464,17665449,17644514,17642204,17641225,17635696,17630485,17621633,17615290,17607710,17559347,17556058,17550972,17538005,17483236,17482311,17468108,17446174,17439948,17432927,17414216,16157382,16153930,16150802,16133898,16115959,16113799,16105876,16102042,16100725,16091654,16051597,16035619,16005200,15998788,15990752,15978110,15976180,15970922,15921657,15917997,15890274,15886806,15863506,15847651,15842360,15840736,15834589,15834425,15826939,15817799,15795319,15748237,15730528,15705408,15701721,15701653,15699036,15695828,15676177,15663601,15638730,15634267,15627799,17406648,16636497,16635210,16634766,16573563,16567932,16513293,16504741,16469512,16444441,16412752,16407244,16400188,16385340,16380674,16359515,16357324,16353042,16340127,16335952,16322781,16322334,16317580,16317099,16307159,16263699,16248996,16228296,16213489,16195248,14521607,14517343,14499914,13678940,12957761,12952967,12941045,12932598,12911597,12902636,12902444,12899665,12874388,12871600,12871468,12855229,12827240,12826159,12818251,12818249,12807887,12799374,12791034,12771130,12765524,12750158,12738509,12736272,12730600,12720308,12719784,12716314,12714203,12694355,12691260,12690916,12690117,12682293,12668663,12665801,12660257,12645863,12639965,12637342,12609844,12586134,12578602,12553378,12518110,12514663,12511588,12499711,12486108,12460991,12427871,12426312,12399420,12393510,15609125,15166241,15147527,15134555,15131115,15076187,15056669,15045135,15044441,14992889,14987913,14966135,14963283,14746139,14691579,14691438,14690453,14681220,14675395,14669168,14634961,14629479,14614355,14593208,14557872,14525764,14524530,16158739,15575508,15565371,15564935,15546585,15509546,15489334,15468167,15456946,15355504,15355503,15344881,15331787,15299032,15227729,15226180,15219201,15187087,15178823,15166949,15166947,15590407,15583747,17092301,17074516,17034033,17032655,16969099,16935858,16905953,16895913,16879215,16877710,16875034,16859511,16831169,16822941,16818691,16790523,16756721,16731529,16724005,16723352,16721604,16716076,16702043,16676352,17376438,17369840,17357883,17346829,17337041,17334320,17332246,17320454,17290027,17278970,17272505,17264806,17258347,17230042,17220212,17206538,17203304,17203213,17196570,17175151,17160992,17158881,17146626,17138951,17127487,17111197,11776310,11723131,11714857,11704375,11686325,11683411,11588040,11583324,11577104,11568114,11546839,11545752,11533523,11460491,11454259,11447076,11397354,11341749,11331301,11257275,11235724,11151063,11053714,11028489,10982404,10964931,10896934,10837460,10835423,10749942,10497223,10438928,10397733,10391209,10233432,10037797,9916748,9790984,9686320,9684783,9517988,9376589,11807098,16675000,15166939,12372811,12372469,12372433,12370491,12364323,12362250,12358597,12353082,12297512,12237321,12237112,12218055,12210725,12209993,12200372,12198771,12168086,12161360,12152651,12152649,12140290,12083483,12082592,12082590,12073410,12038797,12071877,12049640,12036875,12031826,12008962,11994301,11962738,11959660,11953315,11940607,11934894,11932255,11897046,11891802,11884718,11875117,11867691,11864709,11858493,11858476,11812775,11812069,9256940,9215749,9195946,9030514,8831898,8781422,8757599,8663236,8649427,8631894,8400294,8387021,8298129,8244378,8198553,8132570,8093349,7878622,7694683,7690138,7682219,7593198,7539135,7532190,3828395,3801670,3494014,3165296,2787511,2565345,2478219,2454952,2392682,2345548,2341395,2202737,2145280,2001252,1967954,1953640,1694173,1602006,1549507,1430225,1429573,1382574,1371279,16339753,16166568,11877390,11238109,12606711,8132607,2138612,1693624,10964917,11927607,15156152 1580496,1625134,1580489 3690 M35999,S70348,U95204,NM_000212,AC068234,CH471231,DQ454156,L28832,M32686,M57494,S49379,U03881,AY826979,BC127666,BC127667,BE389074,BE893993,BG170864,BQ437000,J02703,M20311,M25108 AAA35927,AAB30847,AAB71380,P05106,Q16157,Q1PBM2,Q2YFE1,NP_000203,EAW57679,EAW57680,EAW57681,EAW57682,ABE67092,AAA20880,AAA67537,AAA52600,AAB23689,AAA16076,AAX33645,AAI27667,AAI27668,AAA52589,AAA60122,AAA36121 Hs.218040 GDB:120013 CD61|GP3A|GPIIIa protein-coding 1320718 ITGB3BP integrin beta 3 binding protein (beta3-endonexin) 10490654,7593198,16710414,16622420,16622419,16189514,15489334,15254226,15082778,12477932,12244126,11864709,11713274,10673397,10579726,9182673 23421 NM_014288,AL592218,BX004807,CH471059,AF175306,BC009929,BC014385,CR596268,CR602272,U37139 NP_055103,EAX06561,EAX06562,EAX06563,EAX06564,EAX06565,EAX06566,EAX06567,AAF00239,AAH09929,AAH14385,AAC50294,AAC50295,Q13352 Hs.166539 GDB:9956535 CENP-R|CENPR|HSU37139|NRIF3|TAP20 protein-coding 733257 ITGB4 integrin, beta 4 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863,729025 11375975,2311577,7545057,18348258,18224668,17964297,17711859,17314405,16965770,16964243,16914518,16870608,16740748,16713569,16707493,16537545,16436605,16335952,16258729,16007143,15951569,15817481,15707651,15611341,15579904,15542431,15387376,15381079,15367640,15304080,15302884,15194479,15161909,15121854,15009117,14602071,14517202,14512419,12919677,12865436,12694355,12499048,12485428,12477932,12441134,12429829,12397374,12168086,12167101,12110680,12107410,12105188,12023052,11886501,11884516,11848444,11809527,11733063,11684709,11389095,11328943,11320086,11289717,11251584,11044453,10873890,10811835,10792571,10727209,10711425,10671376,10637308,10504457,10484780,10477766,10428948,9892956,9837976,9792864,9660880,9546354,9428518,9422533,9374518,9344615,9207246,9194858,9171350,9166594,8444901,7982032,7556090,2542022,2311578,2070796,1976638,12119179,2649503,2138612,1693624 729025 3691 AI318403,BC109238,BC118916,BC126411,CA391583,X51841,X52186,X53587,NM_001005731,NM_001005619,NG_007372,AC087749,AF011376,AJ251004,CH471099,U66541,Y11107,AB208913,AF011375,NM_000213 AAI09239,AAI18917,AAI26412,CAA36134,CAA36433,CAA37656,A0AVL6,P16144,Q0VF97,Q2VP98,Q59H46,NP_000204,NP_001005731,NP_001005619,AAB65422,CAB61345,EAW89305,EAW89306,EAW89307,EAW89308,EAW89309,EAW89310,EAW89311,EAW89312,EAW89313,EAW89314,EAW89315,AAC51632,AAC51633,AAC51634,BAD92150,AAB65421 Hs.632226 GDB:128028 CD104 integrin beta 4 protein-coding 1349145 ITGB5 integrin, beta 5 1580863 14741360,14702039,15156152,12769841,12606711,12477932,12358597,12356872,12270930,11934885,11462216,11435317,11331301,11287419,11278329,11162558,11146654,10995448,10579726,10537314,10438928,9531507,9443892,9442085,8886177,8757599,7689573,7682219,7592829,2371275,2328726,2211615,1918165,1694173,16189514,12459484,18162078,17963729,17074516,16675963,16672769,16614246,16385340,16005200,15979906,15866865,15489334,15456946 3693 NM_002213,AC022336,AC026342,CH471052,AK054968,AK130168,BC006541,CR609293,J05633,M35011,X53002 NP_002204,EAW79405,EAW79406,AAH06541,AAA59183,AAA52707,CAA37188,P18084,ABM83704,ABM87024 Hs.536663 GDB:128005 FLJ26658 protein-coding 1346382 ITGB6 integrin, beta 6 1580863 2365683,18349127,17684544,17438134,17275949,16381901,16024014,16005200,15828940,15815621,15489336,15489334,15458435,15194773,12917446,12634787,12477932,12177807,11992542,11821050,11807098,11668187,11407978,11230166,11095652,11076863,11029766,10906324,10721002,10025398,9741315,9252563,8120056,8081887,7959743,7626292,7537970,1729173,1532572,1382574,8798654 3694 NM_000888,A26609,AC080166,AC092153,CH471058,S49380,AK290300,AL831998,BC121178,M35198 NP_000879,CAA01832,AAY24053,AAX93093,EAX11390,AAB23690,BAF82989,AAI21179,AAA36122,P18564,Q0JS39,CAL38675 Hs.470399 GDB:131392 protein-coding 1343409 ITGB7 integrin, beta 7 1580863 14681217,2040616,17490615,17325197,16874740,16818733,16177076,15749880,15699171,15663557,15489334,15448154,14608374,12682249,12606711,12477932,11781567,11160270,11035069,10837471,10790430,9765275,9655832,9233649,8119947,7689608,7509610,2083230,1777426,1543919,1382574,1372909,1373725 3695 NM_000889,AC073573,CH471054,L23823,S49378,BC015916,CR610718,M62880,M68892,S80335 NP_000880,EAW96675,AAA36118,AAB23688,AAH15916,AAA59185,AAA59184,AAB21332,P26010,Q9UCP7,ABM86374,ABW03787 Hs.654470 GDB:128601 protein-coding 1322799 ITGB8 integrin, beta 8 This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863,1358329 1918072,16702213,12875973,12853948,12690205,12477932,12324452,11970960,11156415,9847074,9252563,7525578,16189514 1358329 3696 NM_002214,AC004130,CH236948,CH471073,AB209429,AW516961,BC002630,BC042028,BI861225,BT006739,M73780 BAD92666,NP_002205,AAQ96845,AAQ96846,EAL24275,EAW93724,EAW93725,AAH02630,AAP35385,AAA36034,P26012,Q59FN1,Q9BUG9 Hs.592171 GDB:134647 protein-coding 1348863 ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) 1580863 10051402,14702039,12477932,12364586 9358 NM_004791,AE014302,AL139800,AL160153,AL355807,CH471085,AB008375,AF072752,AK075136,AK095875,AK291340,BC036788 NP_004782,AAN16024,EAX09052,EAX09053,BAA22994,AAD17666,BAF84029,AAH36788,O14549,O95965,Q5VZK1,Q5VZK2 Hs.696554 GDB:9956056 OSCP|TIED protein-coding 1314518 ITIH1 inter-alpha (globulin) inhibitor H1 1580863 2446322,14718574,18226209,17675295,15489334,14760718,12754519,12477932,11807786,10100603,9756925,9692908,9677337,9425062,7681778,7592891,7535743,7522574,7513643,7505744,7504674,3663330,2476436,2471637,2465147,1385302,1384548,1380832 3697 AC006254,CH471055,X69532,X75318,AK292750,NM_002215,BC069464,BC109115,CR602479,CR615727,M18192,X16260,X63652 EAW65259,EAW65260,EAW65261,CAA49279,CAA53067,BAF85439,NP_002206,AAH69464,AAA60557,CAA34346,CAA45188,P19827,Q32MI5 Hs.420257 GDB:120107 H1P|IATIH|ITIH|MGC126415 protein-coding 1345234 ITIH2 inter-alpha (globulin) inhibitor H2 1580863 14718574,18382897,16702221,16335952,15840581,12754519,12477932,10100603,9677337,9514613,9425062,9373149,8601712,8125298,7682553,7516184,7513643,7504674,3663330,2476436,2465147,2462430,2450046,2446322,1385302,1384548 3698 NM_002216,AL158044,CH471072,AA406494,AK225277,AK225329,AK291379,BC132685,BG617651,CB154170,CR624216,M18193,M33033,X07173 NP_002207,CAI12956,CAI12957,CAI12958,EAW86376,EAW86377,EAW86378,BAF84068,AAI32686,AAA60558,AAA59195,CAA30160,P19823,Q5T985,Q5T986 Hs.75285 GDB:120108 H2P|SHAP protein-coding 732422 ITIH3 inter-alpha (globulin) inhibitor H3 1580863 14718574,17898697,17211523,16344560,16335952,14702039,12477932,11807786,11716497,10893227,10567446,10100603,10037773,9756925,9373149,9359851,8125298,7681778,7522574,2476436,2465147,2446322,1898736,1385302 3699 NM_002217,AC006254,CH471055,X99854,AI683095,AK122858,AK222757,AK223483,BC107604,BC107605,BC107814,BX448552,BX495022,DA370870,X14690,X67055 NP_002208,EAW65262,EAW65263,CAC79611,BAD96477,BAD97203,AAI07605,AAI07606,AAI07815,CAA32821,CAA47439,Q06033 Hs.76716 GDB:120109 H3P pre-alpha-inhibitor, heavy chain 3 protein-coding 737492 ITIH4 inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein) 633094,1582334,1580863,1627650 14718574,16335952,16271702,14760718,14661079,12754519,12147176,9756925,9480842,9126497,8797089,7805892,7775381,7587397,7541790 633094,1582334,1627650 3700 NM_002218,AC006254,CH471055,U43163,AI217735,BC136393,BX477542,BX647322,CR591457,D38595 NP_002209,EAW65264,EAW65265,AAD05198,AAI36394,BAA07602,Q14624,Q68DH2 Hs.709406 GDB:453950 DKFZp686G21125|H4P|IHRP|ITIHL1|PK120 protein-coding 1606774 ITIH5 inter-alpha (globulin) inhibitor H5 17653090,16303743,14744536,14702039,12975309,12477932,11853319 80760 BC069714,BC142961,NM_030569,NM_032817,NM_001001851,AL158044,AL355374,CH471072,AB075833,AF318347,AK027375,AK027547,AK027831,AK027849,AK075381,AL079707,AL833203,AY238437,AY358426,BC004282,BC050649,BE898209,CR627109,H87485 NP_085046,NP_116206,NP_001001851,CAI12953,CAI12954,CAI12955,CAI16360,CAI16361,CAI16362,CAI16363,EAW86379,EAW86380,EAW86381,EAW86382,EAW86383,BAB85539,AAL55854,BAB55070,BAB55191,BAB55397,BAB55409,AAO49812,AAQ88792,CAH10363,Q5T663,Q5T666,Q86UX2,Q8WYV2,Q96JV8,Q96JW9,Q96ST7 Hs.498586 DKFZp686F0145|MGC10848|pp14776 protein-coding 1345462 ITIH5L inter-alpha (globulin) inhibitor H5-like 12975309 347365 NM_198510,AL022575,CH471154,Z98046,AY358170 NP_940912,EAW93186,EAW93187,EAW93188,CAI42344,AAQ88537,Q6UXX5,AAI56206,AAI57043 Hs.454272 UNQ6369|dJ14O9.1 protein-coding 1323169 ITK IL2-inducible T-cell kinase This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. 1580863 8364206,11048639,17652306,17897671,17724684,17237383,17192257,17060314,16931156,16159638,15761153,15489334,15184383,15144186,12573241,12477932,12445832,12186560,12163161,11830645,11598012,11581171,11437596,10958690,10636929,10587356,10586033,10556826,10506192,10048424,10022833,9312162,8992971,8985255,8810341,8630736,8629002,8504851,7829087,7567982,15388330 3702 NM_005546,AC010609,CH471062,AB209622,BC109077,BC109078,BX538196,D13720 NP_005537,EAW61608,BAD92859,AAI09078,AAI09079,CAD98063,BAA02873,Q08881,Q59F39,Q7Z318 Hs.558348 GDB:207268 EMT|LYK|MGC126257|MGC126258|PSCTK2 protein-coding 1346201 ITLN1 intelectin 1 (galactofuranose binding) 1580863 16531507,18174521,17329619,17311679,17295929,16386808,16261254,15777968,15489334,14720597,14702039,12975309,12477932,11747454,11313366,11181563,9373149,8125298 55600 AL354714,CH471121,AB036706,AF271386,AK000029,AK222533,AY065972,AY157361,NM_017625,AY157362,AY358359,AY549722,AY619691,AY619692,BC020664,CR457224 NP_060095,CAH72357,EAW52688,EAW52689,EAW52690,BAA96094,AAM20741,BAA90893,BAD96253,AAL58073,AAO17800,AAO17801,AAQ88725,AAS49907,AAU88047,AAU88048,AAH20664,CAG33505,Q5IWS4,Q5IWS5,Q5VYI4,Q8WWA0 Hs.50813 FLJ20022|HL-1|HL1|INTL|ITLN|LFR|hIntL|omentin protein-coding 1353033 ITLN2 intelectin 2 1580863 12975309,12477932,11181563 142683 NM_080878,AL354714,AL591806,CH471121,AY065973,AY358905,BC117225 NP_543154,CAH72351,CAI15364,EAW52685,AAL58074,AAQ89264,AAI17226,Q17RR2,Q5VYI0,Q8WWU7 Hs.385631 HL-2|HL2 protein-coding 1354301 ITM2A integral membrane protein 2A 1580863 15772651,15489334,12975309,12477932,11042152,10432285,9892734,9653160,9373149,8702637,8570611,8125298 9452 NM_004867,AL009028,AL021786,CH471104,AB209310,AF038953,AK223327,AY359051,BC010511,BC034485,BC040437,BG506587,CR456875,CR591355,CR594227,CR604015,CR606722,CR609050,CR611328,CR618850,CR621564,U38439 NP_004858,EAW98590,EAW98591,BAD92547,AAC39867,BAD97047,AAQ89410,AAH40437,CAG33156,O43736,Q53FG2,Q6IBC9,ABZ92512 Hs.17109,Hs.694944 GDB:9956744 BRICD2A|E25A protein-coding 1353059 ITM2B integral membrane protein 2B 1358403,1580863 10391242,17965014,16612984,16027166,15983050,15968464,15489334,14656991,14586629,12477932,12196136,12082633,10931946,10781099,9795190,5466275 1358403 9445 CR590893,AL139322,AY341247,CH471075,AF086918,AF092128,AF136973,AF152462,AF246221,AK000503,AK027411,AK130048,BC000554,BC016148,BC018053,BT006863,NM_021999,CR592908,CR593958,CR594037,CR594079,CR594256,CR595747,CR598047,CR599660,CR599825,CR599884,CR603570,CR606888,CR608090,CR610320,CR610712,CR612400,CR613483,CR617212,CR618055,CR619102,CR620534,CR620837,CR621556,CR621906,CR625796,CR626358 Q9NX12,Q9Y287,ABM92208,ABM84685,Q96B24,NP_068839,CAH71156,CAH71157,AAP88930,EAX08788,EAX08789,EAX08790,EAX08791,AAP97148,AAD40370,AAG49434,AAD45280,AAF66130,BAA91210,AAH00554,AAH16148,AAP35509,Q5W0A3,Q7Z528 Hs.706778 GDB:9956730 ABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD protein-coding 1319877 ITM2C integral membrane protein 2C 1298632,1580863 11256614,16341674,16303743,16189514,15606899,15489334,14702039,14592447,12477932,11290423,11230166,11042152,9653160,9373149,8702637,8125298,7938007,7757816,7566098 1298632 81618 CR603208,NM_030926,NM_001012516,NM_001012514,AC012507,CH471063,AB003629,AF271781,AF272043,AK056321,AK075361,AK090975,AK126739,AK222697,AL136603,AL713651,AY049777,BC002424,BC025742,BC050668,BC098563,BM842614,CR457208,CR593830,CR594449,CR598205,CR600331,CR600725,CR604981,CR611572,CR612131,CR613799,CR614347,CR615397,CR619124,CR749389,D87062 NP_112188,NP_001012534,NP_001012532,EAW70934,EAW70935,EAW70936,EAW70937,EAW70938,BAB46927,AAG44792,AAF89492,BAC11570,BAC03562,BAD96417,CAB66538,CAD28460,AAL15434,AAH02424,AAH25742,AAH50668,AAH98563,CAG33489,BAB46918,Q96JS4,Q9NQX7 Hs.111577 GDB:9957241 BRI3|BRICD2C|E25|E25C|ITM3 protein-coding 1348154 ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase) The protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding. 1300199,1580863 18240903,18223458,17697198,17530705,17304144,17138556,17113761,17077483,16947783,16611274,16431304,16214825,15973722,15946879,15571266,15571265,15564886,15489334,15322947,15167706,12477932,12436200,12384777,11780052,11278832,1667585,1204209,487601 1300199 3704 NM_033453,NM_181493,AB196785,AL109976,AL121891,CH471133,AB062127,AF026816,AF063607,AF219116,AF334680,BC010138,BM560812,CR591168,CR595616,CR607092,EF199841,EF213026 NP_258412,NP_852470,BAD81025,CAC16798,CAI19399,EAX10540,EAX10541,EAX10542,BAB93459,AAB82608,AAG43165,AAK21848,AAL57168,AAH10138,ABP01354,ABO70316,Q5NT82,Q8WWI0,Q9BY32,ABM87124,ABW03835 Hs.415299 GDB:120110 C20orf37|HLC14-06-P|ITPase|dJ794I6.3 protein-coding 1312967 ITPK1 inositol 1,3,4-triphosphate 5/6 kinase 1580863 8662638,17616525,16189514,15837423,15762844,15489334,12925536,12477932,12324474,11909533,11533064,11042108 3705 AL110118,AL117192,CH471061,AF279372,BC003622,BC007428,BC018192,BC037305,BQ434653,NM_014216,CB997740,CR591450,CR594461,CR601388,U51336 NP_055031,EAW81507,EAW81508,EAW81509,EAW81510,EAW81511,EAW81512,EAW81513,AAG44835,AAH03622,AAH07428,AAH18192,AAH37305,AAC50483,Q13572,Q8N3Y0,ABM82360,ABM85535 Hs.308122 GDB:3811924 ITRPK1 protein-coding 732603 ITPKA inositol 1,4,5-trisphosphate 3-kinase A Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro. ITPKA and ITPKB are 68% identical in the C-terminus region. 1580863,1300048 12747803,12477932,12202356,11468283,9374536,9155020,2824270,2175886,2167676,1660262,1330886,1654894,1847047,2176078,16525636,15489334,15350214 3706 NM_002220,AC087721,CH471125,BC026331,X54938 NP_002211,EAW92493,AAH26331,CAA38700,P23677 Hs.2722 GDB:126863 IP3KA protein-coding 1345915 ITPKB inositol 1,4,5-trisphosphate 3-kinase B The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. 1580863 1654894,16740130,16710414,16354157,16189514,15489334,14702039,12747803,12477932,11846419,11104677,9374536,8889548,2176078,1330886 3707 NM_002221,AL365444,BX537724,CH471098,AJ242780,AK025304,AK095901,AK289700,AY513281,BC015009,BM972039,BQ434913,BQ434930,X57206,Y18024 NP_002212,CAH70187,CAH70188,EAW69793,CAC40650,BAF82389,AAT08034,AAH15009,CAA40491,CAB65055,P27987,Q2TU82 Hs.528087,Hs.659396 GDB:128973 IP3K|IP3K-B|IP3KB|PIG37 protein-coding 1345351 ITPKC inositol 1,4,5-trisphosphate 3-kinase C Inositol 1,4,5-trisphosphate 3-kinase (ITPK) catalyzes the phosphorylation of Ins(1,4,5)P3 to Ins(1,3,4,5)P4, both of which are modulators of calcium homeostasis. ITPK isoforms include ITPKA (MIM 147521), ITPKB (MIM 147522), and ITPKC, all of which contain a conserved catalytic unit in their C termini, but have unique N-terminal sequences and tissue distributions.[supplied by OMIM] 1580863 18084290,15489334,12747803,12477932,11085927 80271 NM_025194,AC010412,AC020945,AC098782,CH471126,AJ290975,AK024596,BC026903,BC060788,D38169,Y11999 NP_079470,EAW56992,EAW56993,CAC40815,AAH60788,BAA22524,CAA72728,Q96DU7 Hs.515415 GDB:11500645 IP3KC protein-coding 732978 ITPR1 inositol 1,4,5-triphosphate receptor, type 1 1556475,1580863 9808459,9607712,9511764,9346894,8713116,8521476,8132598,7945203,7559486,16454711,11956293,14505576,1693919,7500840,8648241,15652484,14685260,14635192,14570872,12828938,12766172,12754204,12717445,12676536,12611586,12606542,12529267,12525476,12480535,12444087,12356940,12196544,12032348,11782428,11723290,11587548,11574661,11524429,11445634,11163362,10874040,10843712,10737800,10724174,14697242,10209024,9853757,7852357,11413485,8132516,18056410,17932120,17690304,17590087,17437169,17256008,17130290,17081983,16844763,16723353,16621795,16344560,16237118,16223735,16091359,15623527,15613488,15148151,15146197,15104175,15067324,14981189,14761954,14707143 1556475 3708 NM_001099952,NM_002222,AC018816,AC024168,AC069248,AC090944,CH471055,AB208868,AI470158,BQ006717,CN431631,CV355426,D26070,DB260851,DB544988,DB576768,L38019,S82269,U23850 NP_001093422,NP_002213,EAW63908,EAW63909,EAW63910,EAW63911,EAW63912,EAW63915,BAD92105,BAA05065,EAW63913,EAW63914,AAB04947,AAD14386,Q14643,Q59H91 Hs.567295 GDB:127552 INSP3R1|IP3R|IP3R1|SCA15|SCA16 protein-coding 734228 ITPR2 inositol 1,4,5-triphosphate receptor, type 2 1580863 8081734,10828023,18249094,17827064,17437169,16344560,15342556,14684825,11694504,11336651,11163362,11013462,10970773,10874040,10843712,9729462 3709 D26350,DB144849,NM_002223,AC023051,AC023425,AC024093,AC024145,AC055720,CH471094,AB012610,AL711179,AY429550,BP314401,BP364657,BU173910,BX495410,CR597988 BAA05384,Q14571,NP_002214,EAW96534,EAW96535,BAA33961 Hs.512235 GDB:127553 IP3R2 protein-coding 733997 ITPR3 inositol 1,4,5-triphosphate receptor, type 3 1580863 8288584,10828023,18434505,18340361,18219441,17496801,17437169,17081983,16960798,15623527,15051494,14707143,14702039,14685260,14666665,12606721,12477932,12032348,11524429,11290752,11163362,11149946,11035010,10980191,10874040,10843712,10692497,8388391,8385102,8081734,7559486 3710 NM_002224,AL139044,CH471081,AB209739,AK093524,AL832807,BC146646,CA430212,CR620699,D26351,U01062 NP_002215,CAI16455,EAX03744,BAD92976,AAI46647,BAA05385,AAC50064,Q14573,Q59ES2,Q5TAQ2 Hs.65758 GDB:127551 FLJ36205|IP3R|IP3R3 protein-coding 737072 ITSN1 intersectin 1 (SH3 domain protein) The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. 1580863 9799604,12006984,12812986,17405881,17140284,17081983,16914641,16903783,16874303,16442855,15302935,15203208,14702039,12970366,12960435,12477932,12389031,11690630,11584276,10922467,10830953,10777571,10716926,10482960,10373452,10072581,10064583,9813051,9630982,9465890,15256501,11381094,11744688,15719014 6453 AY603418,AY603419,AY605091,AY605092,AY639648,AY639649,AY639651,AY639652,AY639653,BC013578,BC020269,BC039036,BC058925,BC073744,BC116185,BC116186,BC117560,BX538175,DQ340865,DQ386455,DQ679754,DQ679755,DQ679756,DQ679757,EU107386,NM_003024,NM_001001132,AF064245,AP000308,AP000309,AP000310,AP000311,AP000312,AP000313,CH471079,AF064243,AF064244,AF085873,AF114487,AF114488,AF180522,AI857585,AK027846,AK074554,AK075290,AY138139,AY254341,AY340592,AY340593,EU117382,EU120733,EU120734,EU120735,EU120736,EU140799,EU140800,EU152331,EU191901,U61166 AAT28305,AAT28306,AAT36645,AAT36646,AAH39036,AAH58925,AAH73744,AAI16186,AAI16187,AAI17561,CAD98050,ABC69037,ABD72328,ABG74695,ABG74696,ABG74697,ABG74698,NP_003015,NP_001001132,AAC80436,AAC80437,EAX09805,EAX09806,EAX09807,EAX09808,AAC78610,AAC78611,AAD29952,AAD29953,AAD53183,AAN11307,AAP13099,AAQ19991,AAQ19992,Q7Z453,Q86VI9,Q8IWH9,Q8IWU0,Q9UET4,ABV03351,ABV21755,ABV24866,ABV24867,ABV24868,ABV24869,ABV58335,ABV58336,ABV69555,ABW71829,AAC50592,Q0PW94,Q0PW95,Q0PW96,Q0PW97,Q14BD3,Q14BD4,Q15811,Q1ED40,Q20BK3,Q2LAE2,Q6GMY7,Q6J1T1,Q6J1T2,Q6J333,Q6J334,Q6PD56,Q7Z328,Q7Z452 Hs.160324 GDB:6054184 ITSN|MGC134948|MGC134949|SH3D1A|SH3P17 protein-coding 1353883 ITSN2 intersectin 2 This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. Alternatively spliced transcript variants have been found for this gene that encode three distinct isoforms. Additional variants have been found but their full length nature has not been determined. 1580863 9630982,15231747,17696407,17390067,16394100,15951569,15592455,15144186,14702039,12766152,12477932,12421765,11748279,11690630,10922467,10574462,9110174,8619474 50618 NM_019595,NM_147152,AC008073,AC009228,CH471053,AB033082,AF001630,AF038189,AF182198,AF182199,NM_006277,AF248540,AK000302,AK021545,AK025400,AK091859,BC020921,BC038963,BC146779,U61167 NP_006268,NP_062541,NP_671494,AAY14668,AAX93122,AAX93123,EAX00750,EAX00751,EAX00752,EAX00753,BAA86570,AAD00899,AAF59903,AAF59904,AAF63600,BAA91068,BAB13841,AAH20921,AAH38963,AAI46780,AAC50593,Q53TK4,Q53TM3,Q6PJ79,Q8IWI5,Q9NZM3 Hs.432562 GDB:10796483 KIAA1256|PRO2015|SH3D1B|SH3P18|SWA|SWAP protein-coding 1352443 IV inversus situs, viscerum 8114 GDB:139274 735606 IVD isovaleryl Coenzyme A dehydrogenase Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. 1580863,1600039,1300048 3446585,2063866,17576084,16376132,15489334,14702039,12665801,12477932,11606439,10713113,10677295,9665741,9214289,9110174,8619474,8468053,8162068,7640268,6401713,2318964,1310317,16189514 1600039 3712 NM_002225,AC013356,AF038317,AF038318,AF191218,CH471125,AF070531,AJ399852,AK122922,BC017202,BT007145,M34192 NP_002216,AAB92585,AAB92584,AAF20182,EAW92413,EAW92414,EAW92415,CAC06667,AAH17202,AAP35809,AAA52711,O43577,P26440,Q53XZ9,ABM83503,ABM86719 Hs.449599,Hs.513646 GDB:119354 ACAD2 protein-coding 1314662 IVL involucrin Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin, profillaggrin, loricrin, and calcyclin. 1580863 12397374,12126624,11850802,11443109,9804813,9651377,9512462,9159190,9115270,8999895,8554386,8550612,8380829,8276421,7759510,2985954,2873896,2461365,10908733,42494,1601889,16639001,18166499,18077140,17968567,17943181,17882273,17662274,17330131,17205062,16982614,16374477,16140218,15805105,15586248,15489334,15304097,15191537,15147942,15044435,15037572,12810719,12477932,12445200 3713 NM_005547,AF085346,AL162596,M13902,M13903,M17917,M17918,S52650,S80523,U23404,BC046391,BG679040,BM811601 NP_005538,CAI19553,AAA59186,AAH46391,P07476,Q5T7P4 Hs.516439 GDB:119355 protein-coding 1314824 IVNS1ABP influenza virus NS1A binding protein 14702039,12477932,11042152,10048485,9847309,16582008,9696811,17996313 10625 AL078644,AL356273,CH471067,AB020657,AF161553,AF205218,AJ012449,AK000931,AK001273,AK001625,AK001824,AK023020,AK023123,AK092912,AK093912,AK292431,NM_006469,AL137640,BC067739,BX648273,BX649183,CR593694,CR621232,DQ443528,DQ443529 NP_006460,CAB72329,CAI17866,CAI17867,EAW91193,EAW91194,BAA74873,AAF29040,AAG43485,CAA10029,BAF85120,AAH67739,CAE46201,ABE03889,ABE03890,Q6MZF3,Q9Y6Y0 Hs.497183 DKFZp686K06216|FLARA3|FLJ10069|FLJ10411|FLJ10962|FLJ35593|FLJ36593|HSPC068|KIAA0850|ND1|NS-1|NS1-BP|NS1BP protein-coding 1604340 IWS1 IWS1 homolog (S. cerevisiae) 17234882,17184735,17081983,16964243,16648364,16565220,15489334,15302935,14702039,12477932 55677 NM_017969,AC010976,CH471103,AK000868,AK001717,AK027561,AK056881,AL834178,BC017012,BC065279,BC110536,BC110537 NP_060439,EAW95321,BAA91402,BAA91858,BAB55198,BAB71301,CAD38875,AAH17012,AAH65279,AAI10537,AAI10538,Q7L2V5,Q96ST2 Hs.469879 DKFZp761G0123|FLJ10006|FLJ14655|FLJ32319|MGC126375|MGC126376 protein-coding 1345868 IYD iodotyrosine deiodinase IYD facilitates iodide salvage in thyroid by catalyzing deiodination of mono- and diiodotyrosine, the halogenated byproducts of thyroid hormone production (Friedman et al., 2006 [PubMed 16316988]).[supplied by OMIM] 18434651,17322488,16316988,15489334,15289438,14702039,14574404,12477932 389434 NM_203395,AL031010,CH471051,AY259176,AY259177,AY424901,AY424902,AY957659,AY957660,AY957661,AY957662,BC056253,AK129950 NP_981932,CAI20537,EAW47769,BAC85255,AAP22072,AAP22073,AAR84259,AAR84260,AAY41465,AAY41466,AAY41467,AAY41468,AAH56253,Q2VPV9,Q6PHW0 Hs.310225 C6orf71|DEHAL1|dJ422F24.1 chromosome 6 open reading frame 71 protein-coding 1604485 IZUMO1 izumo sperm-egg fusion 1 The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM] 15759005,18082733,17047026,15489334,12477932 284359 NM_182575,NG_007510,AC009002,CH471177,AB195682,AY552609,AY552610,BC034769,BC050460 NP_872381,EAW52395,EAW52396,EAW52397,EAW52398,BAD91012,AAS59145,AAS59146,AAH34769,Q8IYV9,ABM84288,ABM85461,ABM87766,ABW03608 Hs.400688 IZUMO|MGC34799 protein-coding 1353888 JAG1 jagged 1 (Alagille syndrome) The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. 69863,1580651,1582344,1582342,1580863 9268641,11067884,10679295,8955070,9207788,10329626,12107827,8923452,11549580,11427524,18192230,18079963,18060036,17984306,17822320,17720887,17661408,17507991,17368936,17359939,17301032,16934875,16823852,16791277,16575836,16403414,16307184,16013021,15919944,15905075,15781650,15712272,15489334,15466172,15358557,15280477,15258909,15254769,14769803,14726396,14714274,12842995,12826675,12684674,12649809,12497640,12496248,12482954,12442286,12427653,12370358,12357247,12297837,12036964,12022040,11999354,11964309,11780052,11745040,11180599,11157803,11152664,11139247,11058898,11006133,10958687,10551863,10533065,10220506,10079256,9707552,9585603,9462510,9207787,7697721,16023595,12477932 69863,1580651,1582344,1582342 182 NM_000214,NG_007496,AL035456,CH471133,AF003837,AF028593,AI268246,BC098393,BC126205,BC126207,BF056748,U61276,U73936,U77720,U77914 NP_000205,CAC07198,EAX10341,AAC51731,AAB84053,AAH98393,AAI26206,AAI26208,AAB39007,AAC52020,AAC51323,AAC50909,P78504,Q4KMR2,Q99740 Hs.224012,Hs.644805 GDB:6175920 AGS|AHD|AWS|CD339|HJ1|JAGL1|MGC104644 protein-coding 733495 JAG2 jagged 2 The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. 1580863,69864,1304492 9315665,10383933,16713569,11056013,10080181,11549580,11700865,10910909,16899352,16327884,15292061,12551931,12477932,11006133,10958687,10662552,10079256,9486542,8948600 69864,1304492 3714 NM_145159,NM_002226,AF111170,AL512356,CH471061,AB209370,AF003521,AF020201,AF029778,AF029779,BC032053,CR618490,Y14330 NP_660142,NP_002217,AAD15562,EAW81899,EAW81900,EAW81901,BAD92607,AAB61285,AAB71189,AAB84215,AAB84216,CAA74706,Q9Y219 Hs.433445 GDB:9837486 HJ2|SER2 protein-coding 1342770 JAGN1 jagunal homolog 1 (Drosophila) 737633 16303743,14702039,12477932,9373149 737633 84522 NM_032492,AC018809,CH471055,CQ782694,AF212230,AK027508,AK074760,AK225756,BC008507,BC032101,CR591616,CR592606,CR598658,CR601340,CR610826,CR615427,CR615913,CR616583,CR621319,CR622444,CR626291,CR626407,CR626609 NP_115881,EAW64015,CAF85930,AAK14916,BAB55163,BAC11188,AAH32101,Q8N5M9,ABM83207,ABM86407 Hs.24054 FLJ14602|GL009 protein-coding 69102 JAK1 Janus kinase 1 (a protein tyrosine kinase) Janus kinase 1 (JAK1), is a member of a new class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The second phosphotransferase domain bears all the hallmarks of a protein kinase, although its structure differs significantly from that of the PTK and threonine/serine kinase family members. JAK1 is a large, widely expressed membrane-associated phosphoprotein. JAK1 is involved in the interferon-alpha/beta and -gamma signal transduction pathways. The reciprocal interdependence between JAK1 and TYK2 activities in the interferon-alpha pathway, and between JAK1 and JAK2 in the interferon-gamma pathway, may reflect a requirement for these kinases in the correct assembly of interferon receptor complexes. These kinases couple cytokine ligand binding to tyrosine phosphorylation of various known signaling proteins and of a unique family of transcription factors termed the signal transducers and activators of transcription, or STATs. 1625126,1580863,1357942,1357935 8232552,1848670,18362173,18320073,18270328,18266209,18178840,17982039,17686504,17641294,17433443,17158029,16767694,16280321,16239216,16102578,15988755,15923602,15894543,15883164,15194700,12960323,12777975,12620806,12559972,12551917,12477932,12447867,12374810,12223098,12200137,12133952,12130510,11801527,11786531,11742534,11722592,11557047,11527382,11468294,11418623,11201744,11163768,11162588,11133764,11016959,10993906,10982844,10899310,10875931,10825200,10702271,10586060,10531356,10502458,10433356,9774657,9566874,9553136,9516124,9492017,9452495,9446616,9417082,9178903,9020188,8995399,8756628,8702790,8700888,8536716,8272872,8247543,7973659,7698020,7589562,7512720,7499365,1581631,1373877,1213395,12775419,12089333,12734330,11751884,17353931,9774693,10954736,10809230,12403768,11036942,15277531,15063116 1625126,1357942,1357935 3716 NM_002227,AC093427,AL590436,AL606517,CH471059,AB209057,AB219242,AK128375,BC009079,BC023604,BC062431,BC111401,BC132729,BX647675,BX648044,M64174 NP_002218,EAX06547,EAX06548,BAD92294,BAE02826,BAC87406,AAH23604,AAH62431,AAI11402,AAI32730,AAA36527,P23458,Q0VGA4,Q4LDX3,Q59GQ2,Q6P669,Q6ZRA6,Q8IV82,Q9UD26 Hs.207538 GDB:132236 JAK1A|JAK1B|JTK3 protein-coding 731748 JAK2 Janus kinase 2 (a protein tyrosine kinase) This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. 737719,1624963,1580863,1625125,1625126,737794,1357939,1300048,1357935,1627655,1627661,1641841,1641809,1600094,1600095 18160670,18158285,18094555,18092959,18089573,18081705,18079966,18059484,18056003,18055983,18055011,18045059,18035697,18032883,18006699,18003935,18000612,17989398,17984312,17983808,17982107,17976519,17961178,17949475,9727029,11201744,9670957,9590174,18464114,18426677,18398736,18380991,18380984,18343999,18336541,18327418,18306358,18297539,18297515,18294066,18292125,18271926,18270328,18239666,18230964,18223181,18216871,18216297,18195094,18166784,18166783,18165278,11818507,11779507,11731619,11698276,11694501,11679576,11593427,11591716,11585385,11493922,11440634,11438544,11430697,11413148,11373296,11350938,11313464,11294897,11163768,11152457,11134016,11087817,10979953,10954736,10938266,10925297,16563504,16557239,16537803,16503548,16502590,16497804,16442619,16434490,16424865,16420986,16373657,16369984,16365288,16293597,16280321,16257270,16257269,16247455,16204151,16197451,16174768,16091753,16084495,16084028,16079889,16034466,15988755,15985544,15985214,15927298,15923602,15863514,15860661,15858187,15837627,15805263,15793561,15688010,15677497,15676212,15666812,15781101,15615703,15611059,15604419,15358195,15322115,15198092,15164053,15156153,15143188,15143187,15121872,14982882,14978237,14565954,14551213,14551204,14522994,14500680,12960006,12817007,12777975,12668872,12637327,12626508,12576423,12552091,12551917,12540842,12538627,12478664,12477932,12456871,12456798,12441334,12370803,12370296,12351625,12244095,12223098,12106016,12023981,12023369,12007403,11971965,11940572,11940567,11934902,11923474,11875116,11839738,16932338,16930139,16929538,16926301,16923108,16912864,16904848,16888614,16886215,16885051,16877349,16873677,16871275,16868251,16849644,16847321,16831057,16828865,16804112,16772604,16769584,16762626,16757685,16741247,16728702,16632470,16627272,16620973,16617322,16603627,16598312,16598306,16572200,16572198,17296594,17296581,17267906,17266061,17263783,17262192,17249502,17237409,17229652,17229651,17198871,17190855,17169814,17151700,17111143,17110452,17105449,17077140,17068151,17057021,17054914,17052978,17045648,17012261,16990780,16990759,16987804,16982687,16959246,16959222,17307838,16954506,17920755,17920754,17881638,17875526,17854308,17851561,17851549,17849060,17764815,17764814,17761748,17727557,17726017,17712047,17707884,17706283,17703302,17689208,17652621,17643100,17639043,17625612,17625610,17625606,17625603,17625156,17613428,17611562,17611555,17597810,17596137,17581610,17577920,17573918,17546465,17540852,17509995,17507998,17507997,17488346,17476276,17476275,17460706,17452518,17443220,17440984,17440677,17439832,17426257,17408106,17403204,17392820,17389763,17389152,17379742,17376889,17363731,17356406,17344916,17344140,17315023,10918587,10918061,10899310,10872831,10872802,10842319,10842184,10809230,10772872,10757801,10747872,10692450,10635327,10586060,10551884,10531356,10506573,10502458,10455176,10421843,10224114,10205168,10198225,10064597,10026141,9837922,9689060,9632636,9618263,9575217,9573010,9553131,9516124,9510175,9492017,9484840,9473212,9452495,9446644,9363897,9355737,9344848,9343427,9326218,9202126,9169451,9162069,9133424,9126968,9111318,9012831,8995399,8943354,8912646,8876196,8756581,8702385,8657151,8631962,8626374,8617237,8611693,8609418,8608603,8343951,8063815,7925280,7889566,7812050,7775438,7746328,7690989,7657660,7559603,7543024,7540178,7535773,7534285,7530656,7527392,7514165,7500025,7499845,1848670,1581631,9038232 737719,1624963,1625125,1625126,737794,1357939,1357935,1627655,1627661,1641841,1641809,1600094,1600095 3717 NM_004972,AL158147,AL161450,AL513350,AY973037,CH471071,EF094945,EF194100,AF001362,AF005216,AF058925,AK292525,AY973034,BC039695,BC043187 NP_004963,CAD13329,AAY16348,EAW58774,ABK91947,ABM69254,AAC23653,AAB82092,AAC23982,BAF85214,AAY22962,AAH39695,O60674,Q52R86,Q8IXP2,Q506Q0 Hs.656213 GDB:132237 JTK10 protein-coding 737593 JAK3 Janus kinase 3 (a protein tyrosine kinase, leukocyte) The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). 1600254,1625126,1580863,1357939,1357935 16308103,16192633,16153455,15831699,15611059,15592455,15584866,15121872,15067075,15057824,14726805,14615376,14593182,12794134,12777975,12613524,12559972,12477932,12351625,12207328,12200137,12145687,11850821,11668621,11668610,11557047,11349123,11278738,11133764,10982185,10899310,10825200,10733938,10531356,10506573,10037026,9822709,9753072,9553136,9512511,9391116,9045636,8022790,18297515,18250158,17938255,17537734,17456055,17252020,17081797,16932349,16843266,16825495,16790275,16763206,16515549,16344560,9354668,9226382,9182906,9168059,9047382,8921370,8662778,8022486,8022485,7973659,7973658,7659163,7559633,7538655,7535338,7499365,7481768,12605694,11485409,9637477,16189514,11994288,10872802 1600254,1625126,1357939,1357935 3718 NM_000215,NG_007273,AC007201,AF513860,CH471106,U70065,BC028068,BF512748,BM561964,DA405504,U08340,U09607,U31317,U31601,U57096 NP_000206,AAD22741,AAM44860,EAW84637,EAW84638,EAW84639,EAW84640,AAC50950,AAH28068,AAA17743,AAA19626,AAC50225,AAC50226,AAC50542,P52333,Q6LD09,Q8N1E8,Q99699,Q9UMU1 Hs.515247 GDB:376460 JAK-3|JAK3_HUMAN|JAKL|L-JAK|LJAK protein-coding 1605275 JAKMIP1 janus kinase and microtubule interacting protein 1 14718537,17804789,17761393,17572408,16344560,15324660,15277531,14702039,12477932 152789 NM_001099433,NM_144720,AC092442,AC113615,CH471131,AK056126,AK098536,AK124718,AM412307,AM412308,AM412309,AM412310,AW157571,AY382340,BC026343,BC047075,DA155551 NP_001092903,NP_653321,EAW82401,EAW82402,BAB71098,BAC05325,CAL80778,CAL80779,CAL80780,CAL80781,AAR26235,AAH47075,Q96N16 Hs.479066 FLJ31564|Gababrbp|JAMIP1|MARLIN1 protein-coding 1605109 JAKMIP2 janus kinase and microtubule interacting protein 2 17572408,16189514,15489334,14996095,14718537,12477932,9628581 9832 NM_014790,AC011370,AC011415,AC126775,CH471062,AB011127,AF273057,AK291280,BC003189,BC017354,EF512550 NP_055605,EAW61820,EAW61821,EAW61822,EAW61823,BAA25481,AAM44460,BAF83969,AAH03189,AAH17354,ABP62932,Q05DV4,Q96AA8 Hs.184323 JAMIP2|KIAA0555|NECC1 protein-coding 1316212 JAKMIP3 janus kinase and microtubule interacting protein 3 17572408,15277531,14702039,12477932 282973 NM_001105521,AL162274,AL512622,CH471066,AK095176,AK097818,AK123426,AK126964,AL137551,AL832756,BC045170 NP_001098991,CAI12189,CAO03384,EAW49141,BAC85614,BAC86766,CAH10388,Q5T0Q0,Q5VZ66,Q6ZW90 Hs.106254 C10orf39|FLJ37857|FLJ41432|Jamip3|NECC2 protein-coding 1343747 JAM2 junctional adhesion molecule 2 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types and may play a role in lymphocyte homing to secondary lymphoid organs. 1580863 10779521,17525755,17822725,16381901,16335952,15489336,15489334,15340161,14519386,12975309,12953056,12810109,12477932,12476045,12070135,12036298,11823489,11590146,11076863,10945976,10830953 58494 NM_021219,AP000223,AP000224,AP000225,AP000226,CH471079,AF255910,AY016009,AY077698,AY358361,BC017779,BM804795,CR599894,CR605305,CR610497,CR612856,CR618843,CR621227,CR621411 NP_067042,EAX09976,EAX09977,EAX09978,AAF81223,AAG49022,AAL82538,AAQ88727,AAH17779,P57087,Q0JUY1,CAL37679,CAL37748,CAL38686 Hs.517227 GDB:11500535 C21orf43|CD322|JAM-B|JAMB|PRO245|VE-JAM|VEJAM protein-coding 1346212 JAM3 junctional adhesion molecule 3 Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. 18048693,17822725,17625065,17612407,17429428,17227766,17116731,16916751,16303743,16195363,16118203,15879142,15489334,15485832,15340161,15194813,14702039,12975309,12953056,12810109,12477932,12208882,12070135,11944976,11823489,11739175,11590146,9373149,8125298 83700 NM_032801,AP000911,AP001775,CH471065,AF356518,AF448478,AJ344431,AJ416101,AK027435,AK074769,AK075309,AK125071,AK225666,AY358335,BC010690,BC012147,BC057284,BC063031,CR609180,CR612469,CR617412,CR624885,W76344 NP_116190,EAW67817,EAW67818,EAW67819,EAW67820,AAK27221,AAM20925,CAC69845,CAC94776,BAB55107,BAC11195,BAC11538,AAQ88701,AAH10690,AAH12147,Q96T07,Q9BX67 Hs.150718,Hs.700882 GDB:11508763 FLJ14529|JAM-C|JAMC protein-coding 1313452 JARID1A jumonji, AT rich interactive domain 1A The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein which regulates cell proliferation. This protein also interacts with rhombotin-2 which functions distinctly in erythropoiesis and in T-cell leukemogenesis. Rhombotin-2 is thought to either directly affect the activity of the encoded protein or may indirectly modulate the functions of the retinoblastoma protein by binding to this protein. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 7935440,15949438,1857421,11358960,8414517,11445587,17573780,17320161,17081983,16645588,16541399,16344560,15302935,14702039,12477932,9373149,9129143,9110174,8889549,8619474,8530100,8125298 5927 S66431,NM_005056,AC005844,AC007406,CH471116,AA101935,AB209999,AF007135,AK057703,AK225060,AL133026,BC048307,BC053893,BC092417,BC110916,DB079061,NM_001042603 AAB28544,P29375,Q4LE72,Q569K8,AAI56462,NP_001036068,NP_005047,EAW88970,EAW88971,BAE06081,AAH48307,AAH53893,AAH92417,AAI10917 Hs.76272 KDM5A|RBBP2|RBP2 jumonji, at rich interactive domain 1a (rbbp2-like) protein-coding 1322449 JARID1B jumonji, AT rich interactive domain 1B 1580863 12657635,10336460,18048344,17973255,17709396,17373667,17363312,16541399,15640446,14702039,12237901,11483573,11478881,10878660 10765 NM_006618,AC098934,AC104463,AY370676,CH471067,AB015348,AF087481,AJ132440,AJ243706,AK001400,AK022521,AK022553,AK074250,AK122752,AK125746,AL133040,AL133048,AL133072,AL137622,CF593335,CR610637 NP_006609,AAQ82849,EAW91432,EAW91433,EAW91434,EAW91435,BAA34803,AAD16061,CAB43532,CAB63108,BAC86271,CAB61368,CAB61375,CAB61395,CAB70847,O94800,Q6UGB8,Q6ZUF4,Q9NSZ7,Q9UFC7,Q9UFD3,Q9UGL1,Q9UIW7,AAI56050,AAI57032 Hs.443650 FLJ10538|FLJ12459|FLJ12491|FLJ16281|FLJ23670|KDM5B|PLU-1|PUT1|RBBP2H1A jumonji, at rich interactive domain 1b (rbp2-like) protein-coding 1349337 JARID1C jumonji, AT rich interactive domain 1C This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. 17320160,18078810,17468742,17081983,16964243,16541399,16538222,16344560,15772651,15586325,15302935,14660691,12477932,8162017,7951230 8242 NM_004187,AL139396,CH471154,BC047751,BC054499,BI711169,CR602759,CR605926,DB229140,EF613277,L25270,Z29650 NP_004178,CAI39836,CAI39837,CAI39838,EAW93145,EAW93146,AAH47751,AAH54499,ABR13544,AAA61302,CAA82758,P41229,Q5JUX6,Q86WW4,ABZ92271 Hs.631768 GDB:9865642 DXS1272E|KDM5C|MRXJ|MRXSJ|SMCX|XE169 smcy homolog, x-linked (mouse) protein-coding 1346764 JARID1D jumonji, AT rich interactive domain 1D This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. 17320160,17320162,16988213,15613541,14702039,14660691,12815422,12477932,10861003,10747295,9798702,9678364,9143681,9060413,9039502,8841177,7667640,7524912 8284 NM_004653,AC010889,AF134849,AF273841,CH471202,AA864889,AK095923,AK127269,BC011053,BC132721,BC146767,BM052719,BM455812,BX648643,D87072,U52191,U52365 NP_004644,AAK27839,AAG00951,EAW54663,EAW54664,AAI32722,AAI46768,BAA13241,AAC50806,AAC51135,Q9BY66 Hs.80358 GDB:5875390 HY|HYA|KDM5D|KIAA0234|SMCY smcy homolog, y-linked (mouse) protein-coding 1354253 JARID2 jumonji, AT rich interactive domain 2 This gene is an ortholog of the mouse jumonji gene, which encodes a nuclear protein essential for mouse embryogenesis, including neural tube formation. Overexpression of mouse jumonji negatively regulates cell proliferation. The jumonji proteins contain a DNA-binding domain, called an AT-rich interaction domain (ARID), and share regions of similarity with human retinoblastoma-binding protein-2 and the human SMCX protein. 1580863 8894700,16967465,15542826,15489334,15057990,14574404,12890668,12477932,10913339,10807864 3720 NM_004973,AL021938,AL136162,CH471087,AF401209,AK126552,AK292861,BC046184,BC046246,CR590032,U57592 NP_004964,CAI15719,EAW55357,EAW55358,AAL02168,BAC86588,BAF85550,AAH46184,AAH46246,AAC50822,Q6ZTJ9,Q86X63,Q92833,Q96PA1 Hs.696068 JMJ protein-coding 1604718 JAZF1 JAZF zinc finger 1 This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized 15302918,18264096,18077430,17667554,17197920,16397222,16344560,15489334,15043312,14702039,12690205,12477932,11371647,8401585 221895 CR619985,DA864624,NM_175061,AC004007,AC004549,AC004885,AC005017,CH236948,CH471073,AK000711,AK091311,AL832491,AL834234,AY372319,BC042441,BC047229 Q69YN3,Q86VZ6,ABZ92144,NP_778231,EAL24212,EAW93905,CAH10579,CAD38912,AAQ74874,AAH42441 Hs.368944 DKFZp761K2222|TIP27|ZNF802 protein-coding 1344750 JBS Jacobsen syndrome 3719 GDB:120111 1351723 JBTS1 Joubert syndrome 1 10577920 50955 1602305 JDP2 Jun dimerization protein 2 17545590,16026868,14627710,12707301,12477932,12225289,12101239,12052888,11602244,11231009,9154808 122953 NM_130469,AC009363,AF111167,CH471061,AB077880,BC051303,BC068196 NP_569736,AAF21148,AAC98313,EAW81231,EAW81232,EAW81233,BAB83896,AAH51303,Q8WYK2 Hs.699420 JUNDM2 protein-coding 1606499 JHDM1D jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) 14702039,12477932,11214970 80853 NM_030647,AC004849,CH236950,CH471070,AB051505,AK057208,AK131497,BC127007,BX641017,BX649115 NP_085150,AAS00360,EAL24032,EAW83940,BAB21809,BAD18641,AAI27008,CAE46011,Q6ZMT4 Hs.308710 KIAA1718 protein-coding 1346048 JMJD1A jumonji domain containing 1A This gene encodes a zinc finger protein that contains a jumonji domain. 1580863 16603237,15815621,15489334,15302935,14702039,12477932,9872452 55818 CR749581,AC068288,CH471053,AB018285,AI911797,AK074314,AK125045,BC038297,BG723267,BX537674,BX640698,BX647271,BX647752,BX648841,BX649109,NM_018433,DB453517,AL832150 NP_060903,AAY24210,EAW99453,EAW99454,EAW99455,EAW99456,BAA34462,CAE45820,CAH18373,Q9P0K0,Q9Y4C1,CAH18459,AAI56519 Hs.557425 DKFZp686A24246|DKFZp686P07111|JHDM2A|JHMD2A|JMJD1|KDM3A|KIAA0742|TSGA protein-coding 1343523 JMJD1B jumonji domain containing 1B 17081983,16603237,15635413,15489334,15302935,15138608,12477932,12168954,11687974,11161817,11087669,10737800,10470851 51780 NM_016604,AC104116,AC113403,CH471062,AB029005,AF251039,AF338242,AK025755,BC000539,BC001202,BC073869,BC117693,BC146788,BG390435,BI037147,BU149311,BU506660,BU752879,CR596928,CR615541,W28844 NP_057688,EAW62141,EAW62142,BAA83034,AAF63765,AAK13499,AAH00539,AAH01202,AAI17694,AAI46789,Q7LBC6 Hs.483486 5qNCA|C5orf7|KDM3B|KIAA1082 protein-coding 1320591 JMJD1C jumonji domain containing 1C 1580863 17353003,7776974,17549425,17290275,14702039,14533015,12477932,10718198,17353931 221037 NM_004241,AC022022,AL590502,AL607128,AL713895,CH471083,AB037801,AK024991,AK027280,AK056660,AK095584,AK123507,AK126040,AL831917,BC026268,BC037981,BC047331,BC065742,BC067238,BC108649,BC126403,BF243713,BX537954,CR607761,CR619190,DR002533,NM_032776,EF068222,L40411 NP_116165,NP_004232,CAI14188,CAI10947,CAI10948,CAI10950,EAW54242,EAW54243,BAA92618,BAB55015,CAD38578,AAH26268,CAD97921,ABK64187,AAC41741,Q15652 Hs.413416 DKFZp761F0118|FLJ14374|KIAA1380|RP11-10C13.2|TRIP8 protein-coding 1314960 JMJD2A jumonji domain containing 2A This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein with a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. 1580863 16603238,16024779,17567753,18084306,17611647,17589523,17589501,17555712,16732292,16710414,16677698,16601153,16415788,16094384,15927959,15489334,15342556,15146197,15138608,12477932,9734811,8889548,14527417 9682 NM_014663,AC092815,AL451062,CH471059,AB014577,BC002558,BP198064,CA944984,CN361683,CR596058 NP_055478,EAX07085,BAA31652,AAH02558,O75164 Hs.155983 JHDM3A|JMJD2|KDM4A|KIAA0677 protein-coding 1349901 JMJD2B jumonji domain containing 2B 1580863 17611647,16603238,15927959,15489334,15302935,15138608,15057824,12477932,12168954,10048485,9110174,8619474 23030 NM_015015,AC005595,AC022517,AC053467,AC093033,AC104520,CH471139,AB020683,AF052144,AK026040,AK126854,AL133622,BC040014,BC046167,BC063889,CR592462 NP_055830,AAF31271,EAW69180,EAW69181,EAW69182,EAW69183,BAA74899,CAB63748,AAH63889,O94953 Hs.654816 FLJ44906|KDM4B|KIAA0876 protein-coding 1316776 JMJD2C jumonji domain containing 2C This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein with one JmjC domain, one JmjN domain, two PHD-type zinc fingers, and two Tudor domains. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form. Chromosomal aberrations and increased transcriptional expression of this gene are associated with esophageal squamous cell carcinoma. 17611647,17277772,16732293,16603238,16344560,15489334,15164053,15138608,12477932,10987278,9872452 23081 NM_015061,AL137020,AL161443,AL354707,AL445592,AL513412,CH471071,AB018323,AB037901,AF085959,AI017056,BC008296,BC036628,BC053678,BC060771,BC104859,BC104861,CR600819,DA470476 NP_055876,CAI39531,CAI39532,CAI39606,CAI39607,CAH73283,CAH73284,CAQ07510,EAW58730,EAW58731,EAW58732,EAW58733,EAW58734,BAA34500,BAB16102,AAI04860,AAI04862,Q9H3R0 Hs.709425 FLJ25949|GASC1|JHDM3C|KDM4C|KIAA0780|bA146B14.1 protein-coding 1353550 JMJD2D jumonji domain containing 2D 16603238,16554811,15489334,15138608,14702039,12477932,8889548,17555712 55693 CH471065,AK001113,AK056162,AL137545,AW593120,BC031862,NM_018039,AP002383,BC074739,BC119010,BC122858,CA311555 EAW66952,BAA91508,CAB70803,NP_060509,AAH74739,AAI19011,AAI22859,Q0VF39,Q6B0I6 Hs.503598 FLJ10251|MGC141909 protein-coding 1316934 JMJD3 jumonji domain containing 3, histone lysine demethylase 1580863 18003914,17923864,17713478,12477932,10662545,9205841 23135 NM_001080424,AC104581,CH471108,AB002344,BC009994,BC035897 NP_001073893,EAW90127,EAW90128,BAA21572,AAH09994,O15054 Hs.223678 KIAA0346 protein-coding 1607006 JMJD4 jumonji domain containing 4 14702039,12477932 65094 NM_023007,AL136378,CH471098,AK022579,AK023030,AK026908,BC011928,BC109272,CR593629,CR603747 EAW69819,NP_075383,CAI23067,CAI23068,EAW69818,BAB14109,BAB14366,AAH11928,Q32M74,Q96EU8,Q9H9V9 Hs.325081,Hs.555974 FLJ12517|MGC129896 protein-coding 1602684 JMJD5 jumonji domain containing 5 JMJD5 is a putative histone lysine demethylase that contains a Jumonji C (JmjC) domain (Shi, 2007 [PubMed 17909537]).[supplied by OMIM] 17909537,16189514,14702039,12477932,9373149,8125298 79831 NM_024773,AC092725,AC106739,AC109449,CH471145,AK023860,AK225066,AY345239,BC027911,CR608978 NP_079049,EAW55759,BAB14706,AAQ23080,AAH27911,Q8N371 Hs.145717 FLJ13798 protein-coding 1313400 JMJD6 jumonji domain containing 6 This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. 17947579,14729065,17534701,16983801,15622002,15489334,15469976,15453906,15345036,15193161,15072554,14702039,14645848,12898702,12559004,12477932,11877474,10811223,9628581 23210 NM_001081461,NM_015167,AC005837,CH471099,AA226560,AA775442,AB011157,AB073711,AK021780,BC016837,BC047003,BC066654,CR594304,CR597139,CR598927,CR600929,CR601337,CR602714,CR609667,CR613854,DB451815 NP_001074930,NP_055982,EAW89429,EAW89430,EAW89431,EAW89432,EAW89433,EAW89434,BAA25511,BAC16755,AAH47003,AAH66654,Q6NYC1 Hs.514505 GDB:9955387 KIAA0585|PSR|PTDSR|PTDSR1 protein-coding 1345689 JMS Juberg-Marsidi syndrome 3721 GDB:204055 1603907 JMY junction-mediating and regulatory protein 10518217,18398821,16344560,15146197,14702039,15706352 133746 NM_152405,AC016559,AC020898,CH471084,AK095189,AL708168,BC130624,BX648731,CN372786,DB313348,DW425980 NP_689618,EAW95834,BAC04495,AAI30625,Q8N9B5 Hs.482605 FLJ37870|MGC163496 protein-coding 1604837 JOSD1 Josephin domain containing 1 15489334,15461802,12486728,12477932,10591208,7584044 9929 AL021707,CH471095,AK291827,BC015026,CR456473,CR456923,CR596979,D31884,NM_014876 EAW60259,EAW60260,BAF84516,AAH15026,CAG30359,CAG33204,BAA06682,Q15040,Q6IB81,CAK54454,CAK54753,NP_055691 Hs.3094 KIAA0063|dJ508I15.2 protein-coding 1606979 JOSD2 Josephin domain containing 2 15489334,12486728,12477932 126119 NM_138334,AC008743,CH471135,AF247787,AK131052,BC051380,BC062416 NP_612207,EAW71874,EAW71875,EAW71876,EAW71877,AAL95692,AAH51380,AAH62416,Q7Z7N5,Q8TAC2 Hs.467151 FLJ29018|SBBI54 protein-coding 1601854 JOSD3 Josephin domain containing 3 15520167,17318177,15489334,14702039,12477932 79101 NM_024116,AP001273,CH471065,AF086435,AF275800,AK027016,AK128061,BC001972,BQ774057,CR457369,CR609260,DW450227 NP_077021,EAW66912,EAW66913,EAW66914,AAG23815,BAB15628,BAC87255,AAH01972,CAG33650,Q6ZRQ4,Q9H5J8,Q9HB73 Hs.355750 MGC5306 protein-coding 1350132 JPD juvenile periodontitis 3722 GDB:120113 1318763 JPH1 junctophilin 1 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. 1580863 17081983,16421571,15146197,12777839,12477932,12135771,10949023,10891348 56704 AB042635,AC087792,AF110324,CH471068,BC017980,BC049372,BC098299,BC098314,BC099736,BC113856,BC114464,BC139832,NM_020647,BX537756,CN272069,CR627477 NP_065698,BAB11986,EAW87026,EAW87027,EAW87028,EAW87029,EAW87030,EAW87031,AAH49372,AAH98299,AAI13857,AAI14465,AAI39833,CAD97825,CAH10677,Q4KMX3,Q6AHW6,Q7Z682,Q86VR1,Q9HDC5 Hs.657367 GDB:11500666 DKFZp762L0313|JP-1|JP1 protein-coding 1313081 JPH2 junctophilin 2 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. 1580652,1580863 17509612,17476457,17081983,15541368,14702039,12477932,11780052,10949023,10891348,15782160 1580652 57158 NM_020433,NM_175913,AL034419,AL035447,CH471077,AK098288,AK098303,AL132999,AW014086,BC029957,BC043206 NP_065166,NP_787109,CAI42199,CAC18785,CAI19380,EAW75940,EAW75941,EAW75942,EAW75943,BAC05277,BAC05281,CAB61347,AAH43206,Q86VZ3,Q8N0V7,Q9BR39 Hs.441737 GDB:11500668 FLJ40969|JP-2|JP2 protein-coding 1318170 JPH3 junctophilin 3 Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in this gene, which is a member of the junctophilin gene family. 1580863 17353931,10891348,17708569,16858508,15876586,15527767,15489334,14702039,12805114,12477932,11914418,11694876,10949023,9225980,11145944 57338 NM_020655,AB042640,AC010536,AC092720,AF429315,CH471114,AB042636,AK055486,AK126663,BC008690,BC036533,BI553267,CR613927,U80757 NP_065706,BAB11987,AAL40941,EAW95386,EAW95387,BAB11983,AAH08690,AAH36533,Q8WXH2,Q96HD8,ABM84495,ABM85346 Hs.592068 GDB:11500537 CAGL237|FLJ44707|HDL2|JP-3|JP3|TNRC22 protein-coding 1315305 JPH4 junctophilin 4 1580863 15489334,14702039,12477932,11347906 84502 NM_032452,AL135999,AB058734,AK055345,AK091572,AK290511,AL834411,AY344068,BC055429,BC109228,CR611477,CR615538 NP_115828,BAB47460,BAB70905,BAF83200,CAD39073,AAS47836,AAH55429,Q2VP99,Q69F39,Q96JJ6 Hs.26714 FLJ34253|JPHL1|KIAA1831|hJP-4 protein-coding 1314867 JRK jerky homolog (mouse) This gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, suggesting that it might function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16344560,14702039,12477932,11463517,9675132 8629 NM_003724,NM_001077527,AC108002,AC145123,AF072469,CH471162,AB209002,AF072467,AF072468,AK024145,AK024975,AK025687,AK127631,BC024297,BC036794,BC043351,BC071862,BX640755,DB083591 NP_003715,NP_001070995,AAC32354,EAW82315,EAW82316,EAW82317,BAD92239,AAC32352,AAC32353,BAC87064,AAH24297,AAH43351,CAE45862,O75564,O75566,Q59GV7,Q6N011,Q6ZS90,Q86XJ5,Q8TB58 Hs.535903,Hs.683465 GDB:9864682 DKFZp686C24207|FLJ45729|JH8 protein-coding 1319078 JRKL jerky homolog-like (mouse) The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. 1580863 9240447,12477932 8690 NM_003772,AC018702,AP003781,CH471065,AF004715,AK290579,BC109202 NP_003763,EAW66986,AAB65833,BAF83268,AAI09203,Q32MC2,Q9Y4A0 Hs.105940,Hs.684437 GDB:9956314 HHMJG|MGC129608 protein-coding 1603184 JSRP1 junctional sarcoplasmic reticulum protein 1 The sarcoplasmic reticulum (SR) is an intracellular membrane compartment that controls intracellular calcium concentration and therefore plays a role in excitation-contraction coupling. In mouse skeletal muscle, Jp45 interacts with key proteins involved in excitation-contraction coupling at the SR (Anderson et al., 2003 [PubMed 12871958]).[supplied by OMIM] 16423849,14702039,12871958,12477932 126306 NM_144616,AC005263,AC138127,CH471139,AK056978,BC021201 NP_653217,EAW69396,BAB71330,AAH21201,Q96MG2 Hs.701003 FLJ32416|JP-45 protein-coding 736325 JTB jumping translocation breakpoint 69865,1580863 10321732,15489334,12586295,12477932,11042152,10762645,9110174,8619474 69865 10899 CR595312,CR599832,CR603308,CR608719,CR613105,CR618181,CR620505,CR625103,BC000499,BC000996,BC001363,BC001667,BC004239,BC019277,BM907938,BT007285,BU527541,CR456985,NM_006694,AB016492,AB016493,AL358472,CH471121,AB016488,AF115850,AF131797,AF151056 AAH00499,O76095,Q6IB19,Q9P0Q4,AAF36142,AAH00996,AAH01363,AAH01667,AAH04239,AAH19277,AAP35949,CAG33266,NP_006685,BAA33735,BAA33736,CAI14028,CAI14029,CAI14030,EAW53242,BAA33731,AAD09822,AAD20045 Hs.6396 GDB:9958465 B PAR|HJTB|HSPC222|PAR|hJT protein-coding 1351606 JTK5A JTK5A protein tyrosine kinase 3723 GDB:134753 1344537 JTK5B JTK5B protein tyrosine kinase 3724 GDB:134754 1603320 JTV1 JTV1 gene 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. 16189514,16125937,15489334,12853948,12819782,12783850,12729910,12690205,12477932,10913161,9878398,8666379,1651330,600859,15479637 7965 NM_006303,AC005995,CH236963,CH878731,AF116615,BC002853,BC010156,BC013630,CR590372,CR592412,CR596215,CR600328,CR609344,CR623969,U24169 NP_006294,AAS00389,EAL23713,EAW55053,EAW55054,AAF71039,AAH02853,AAH10156,AAH13630,AAC50391,Q13155 Hs.301613,Hs.520205 GDB:9958997 AIMP2|P38|PRO0992 protein-coding 1343876 JUB jub, ajuba homolog (Xenopus laevis) 1580863 17621269,16713569,16413547,15870274,15870270,15728191,14702039,13678582,12477932,12417594,11860269,11029037,10330178,15778465 84962 NM_032876,NM_198086,AL132780,CH471078,AK025567,AK096128,AY169959,BC007580,BC016733,BC034968,BU543883,CB105505 NP_116265,NP_932352,EAW66204,EAW66205,AAO37641,AAH07580,AAH34968,Q96IF1,ABM84439,ABM87485 Hs.655832 Ajuba|MGC15563 protein-coding 734356 JUN jun oncogene This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. 1580863,1549443,2290482,2290481,2290480,2290478,2290479,2290484 9443941,2825349,10973489,9030721,10918580,18347071,18316603,18192274,18180316,18180292,18174157,18172215,18171671,18073204,18065414,18062835,18032824,17978573,17968316,17952113,17940019,17920329,17914574,17845581,17804415,17761353,17703412,17702894,17681951,17672916,17658605,17652081,17651785,17639289,17637753,15001576,15087451,15034932,14739464,14667575,14654548,14652666,14645224,14638681,14532268,14530285,14522952,14511403,14500675,12963995,12963547,12954631,12949493,12909593,12875982,12853483,12815619,12805554,12799614,12798298,12700665,12692226,12682910,12618758,12615916,12600818,12592382,12554755,12547826,12485413,12477932,12446585,17634427,17588603,17510314,17506864,17495958,17466952,17403042,17401435,17317669,17314269,17283046,17283040,17237407,17237388,17235455,17215518,17130130,17121851,17101801,17097050,17088247,17085440,17074809,17009014,16980310,16951171,16928756,16911523,16905771,16895791,16887814,16844113,16786139,16710414,16702224,16690925,16676006,17636030,12441106,12437352,12186939,12183893,12167088,12165517,12145210,12119282,12091339,12087103,12080089,12077347,12052862,12034730,11983170,11956220,11948398,11914583,11912197,11909859,11903046,11891317,11891228,11877416,11867732,11823437,11801649,11739718,11708771,11704680,11689449,11641401,11551904,11477071,11448159,11432833,11397794,11371641,11331585,11316804,11278891,11278640,11278277,11274169,11260070,11254713,11053448,11022789,10878360,10799874,10644332,10637231,10523647,10509564,10506225,10497212,10490649,10488148,10478848,10428834,10421840,10357819,10330159,10220381,10196196,10188588,10026157,9872330,9786917,9732876,9685505,9671405,9670954,9642216,16620772,16586042,16582099,16571680,16569638,16410250,16380075,16361535,16343055,16341687,16328781,16303762,16289409,16285957,16253992,16243842,16236267,16223572,16199533,16158054,16140218,16123044,16055710,16049073,16023596,15994313,15991283,15944151,15941782,15936718,15923644,15923621,15922298,15897893,15894171,15870692,15863510,15840658,15746191,15718494,15708845,15702969,15701643,15654976,15642950,15586248,15579469,15550679,15544846,15530430,15528994,15514030,15507668,15489334,15480426,15469925,15385474,15383523,15378002,15351693,15333603,15314185,15314183,15302935,15302867,15271374,15262961,15249231,15226448,15191540,15158360,9621077,9566900,9545246,9510247,9488446,9468519,9445037,9405416,9346889,9334186,9235954,9223324,9211894,9154808,9129988,8974016,8837781,8798722,8763994,8733011,8663478,8663380,8662824,8654373,8649793,8628277,8617242,8570175,8557686,8464713,8440710,8397339,8387155,8380166,8302594,8137421,8108109,8087846,7848298,7823959,7816143,7738014,7690421,7666555,7662174,3194415,2320002,2138276,1922387,1827203,1651323,1631061,1516134,1448082,1310896,12775419,12089333,10581001,10027715,16179804,16001969,7642615,8621941,7957556,12419805,9628874,10388555,8480425,15258149,14633987,14506227,10847592,10567404,8027667,16023595,16007099,15806162,15706351,15696159,9155018,9020136,8816797,8816798,9374537,15688015,15674337,15240010,15175153 1549443,2290482,2290481,2290480,2290478,2290479,2290484 3725 NM_002228,AL136985,AY217548,CH471059,J04111,BC002646,BC006175,BC009874,BC068522,BG831943,BI793062,BT019759,BU782554,CD370800,CR541724,CR541752 NP_002219,AAO22993,EAX06628,AAA59197,AAH06175,AAH09874,AAH68522,AAV38564,CAG46525,CAG46552,P05412,Q6FHK0,Q6FHM7,ABM87431 Hs.525704 GDB:120114 AP-1|AP1|c-Jun protein-coding 737195 JUNB jun B proto-oncogene 1580863 11477071,11036094,10903323,2513129,17965727,17690253,17681951,17495958,17306025,17204476,17081983,16880520,10777209,10764760,10220381,9889198,9872330,9405416,9373149,9154808,8917518,8649827,8570175,8530030,8432525,8125298,2112242,1899335,1633872,1406655,15240010,16552541,16189514,15507668,15489334,15302935,15231748,14499865,12907627,12907453,12592382,12522006,12506033,12477932,12393503,12371906,12165517,12145210,12080089,11726656 3726 NM_002229,AC018761,AY751746,CH471106,M29039,U20734,AK222532,BC004250,BC009465,BC009466,BT019760,CR590747,CR593398,CR594023,CR594713,CR597506,CR598191,CR600570,CR601699,CR602325,CR603499,CR604051,CR606286,CR606700,CR607954,CR610072,CR611695,CR611906,CR612594,CR612640,CR612733,CR613405,CR614703,CR614974,CR614983,CR616502,CR617154,CR617771,CR619014,CR619026,CR620377,CR621592,CR623369,CR624580,CR624830,CR625280,CR626547,X51345 NP_002220,AAU43800,EAW84307,AAA59198,AAA74915,BAD96252,AAH04250,AAH09465,AAH09466,AAV38565,CAA35738,P17275,Q53HP8,Q5U079,ABM83947,ABM87265 Hs.25292 GDB:125379 AP-1 protein-coding 735346 JUND jun D proto-oncogene The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. It has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternate translation initiation site usage results in the production of different isoforms. 1580863 1903194,18443593,18095154,18078517,17681951,17651017,17495958,17205062,17204476,17081983,16423552,16264271,16129800,16007120,15563473,15507668,15302935,15044019,14559791,12727841,12615916,12477932,12226747,12193410,12165517,12105216,12082101,12080089,12054733,12052862,12052834,12032852,11903046,11221882,10942775,10934195,10713367,10523647,10220381,9989505,9872330,9739985,9373149,8945519,8889548,8837781,8570175,8432525,8152431,8125298,7848298,2112242,1899335,9154808,15706351,10500243,15688015 3727 NM_005354,AC008397,CH471106,EF044249,AK223630,CA502969,X51346,X56681 NP_005345,EAW84684,ABJ53425,BAD97350,CAA35739,CAA40010,P17535,Q53EK9 Hs.2780 GDB:125380 AP-1 protein-coding 732396 JUP junction plakoglobin This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. 1600286,1580863,2291873,2291872,2291883,2291890,2291864,2291880,2291866,2291876,2291882,2289818,2291881 1639850,18245958,17998942,17924338,17081983,17002498,16537559,16306047,16189514,15951569,15942628,15781623,15701841,15231748,14739224,14661058,14661054,14517306,12939402,12847106,12808048,12604612,12477932,12386812,12370829,12068170,12003790,11984022,11790773,11711551,11710948,11707392,11348595,11274246,11136974,11016852,10959047,10902626,10803460,10801826,10769211,10769205,10488109,9739078,9606214,9443898,9348293,9298899,9245795,9168809,9139698,9110993,8749329,8743961,8663237,8576101,8314871,8207061,7971964,7890674,7876318,7738346,7702605,7650039,7604000,2726765,1889810,12639940,14625392,12707304,9434630,10910767,9535896,8074697,7542250,7651399,9762469,17353931,11712088,12426320 1600286,2291873,2291872,2291883,2291890,2291864,2291880,2291866,2291876,2291882,2289818,2291881 3728 NM_002230,NM_021991,AC109319,AF233882,AF306723,AJ249711,CH471152,D50808,AK226051,AY243535,BC000441,BC011865,CR608656,CR612481,M23410,Z68228 NP_002221,NP_068831,AAG16727,CAC04246,EAW60762,EAW60763,EAW60764,EAW60765,BAA09435,AAO85780,AAH00441,AAH11865,AAA64895,CAA92522,P14923,Q15151,Q7KZ86,Q7L3S5,Q86W21,Q9BWC4,ABM82346,ABM85520 Hs.514174 GDB:126565 ARVD12|CTNNG|DP3|DPIII|PDGB|PKGB protein-coding 1342755 K12T K12 temperature sensitivity complementing 455493 3729 GDB:120115 1350579 KAAG1 kidney associated antigen 1 1580863 10601354,15489334,14574404,12477932 353219 NM_181337,AF181720,AL359713,AF181722,BC119739,BC119740 NP_851854,AAF23611,CAI17106,AAF23613,Q6NTF4,Q9UBP8,AAI52887 Hs.697888 MGC78738|RU2|RU2AS protein-coding 1350490 KAL1 Kallmann syndrome 1 sequence Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. 1580863 8842728,1922361,1913827,8832397,17603054,17223984,17213338,17054399,16876430,15949815,15636431,15605412,15548653,15471890,15324302,15146197,15004876,15001591,12627230,12050219,11463336,11297579,10591208,9713559,9589672,8989261,8504298,7590336,1977309,1303284,1302031 3730 NM_000216,NG_007088,AC005184,AC006062,AC096511,CH471074,X82034,AI582702,CN417843,M97252,S60085,S60088,X60299 NP_000207,EAW98759,CAA57554,AAA59202,AAB20108,CAA42841,P23352 Hs.521869 GDB:120116 ADMLX|HHA|KAL|KALIG-1|KMS protein-coding 1350651 KAL2 Kallmann syndrome 2 (autosomal dominant) 3731 GDB:265288 1343715 KAL3 Kallmann syndrome 3 (autosomal dominant) 3733 GDB:265290 1352931 KALP Kallmann syndrome sequence pseudogene 12815422,1303285 3734 AC006370,X68743,NG_001153 GDB:128310 ADMLY|KAL-Y pseudo 1601887 KALRN kalirin, RhoGEF kinase Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. Alternatively spliced transcript variants encoding different isoforms have been described. 9285789,10023074,18199770,17851188,17640372,17357071,16964243,16713569,16620772,15950621,15489334,14742910,14702039,12546821,12477932,11891045,10777487,9915831,9139723,14623284 8997 NM_001024660,NM_003947,NM_007064,AC022336,AC069233,AC080008,AC112129,AC117401,CH471052,AB011422,AK123068,AK125979,AK126954,AK128223,AK131379,AL137629,BC026865,BC037924,BC058015,CR605792,CR608638,U94190 NP_001019831,NP_003938,NP_008995,EAW79410,EAW79422,BAA76314,BAC86373,BAC86761,BAD18530,CAB70850,AAH26865,AAH58015,AAC15791,O60229,Q6ZT34,AAI66705 Hs.8004 GDB:9351252 DUET|FLJ16443|HAPIP|TRAD|duo protein-coding 1317065 KANK1 KN motif and ankyrin repeat domains 1 This gene encodes a protein containing four ankyrin repeat domains in its C-terminus. The suggested role for this protein is in tumorigenesis of renal cell carcinoma. Two alternatively spliced transcript variants encoding different isoforms have been identified. 17996375,16968744,15823577,15596059,15489334,15231748,15164053,12477932,12133830,8724849 23189 NM_015158,NM_153186,AL136979,AL161725,AL392089,CH471071,AB205106,AB205107,AB205108,AB205109,AB205110,AK025428,AK025636,AK026421,AK290028,AK292989,AL039663,AL832454,AL833015,AL833161,BC020040,BC037495,BC038116,BX648931,CR594759,D79994 NP_055973,NP_694856,CAH70387,CAH70388,CAH70389,CAH70390,CAM13084,EAW58821,EAW58822,BAD97395,BAD97396,BAD97397,BAD97398,BAD97399,BAF82717,BAF85678,CAD90003,CAH56292,AAH20040,AAH37495,AAH38116,BAA11489,Q14678,Q53U93,Q5W0W1,Q5W0W3,Q658S3,Q6PIB3,Q86TE2,Q8WUM7 Hs.306764 ANKRD15|DKFZp451G231|KANK|KIAA0172|MGC43128 protein-coding 1352192 KANK2 KN motif and ankyrin repeat domains 2 737633 17996375,17476305,17081983,15489334,15146197,14702039,12477932,12107410,10819331,9373149,8125298 737633 25959 NM_015493,AC009000,AC011485,CH471106,AB040951,AB284125,AK000011,AK002094,AK023332,AK225038,AL117489,AL701379,AY639929,BC030030,BC032745,BC049201,BC082762,BC098105,BC098286,BC098312,BC105989,BQ631109,CA394858,CN306249,CR457388,CR595669 NP_056308,EAW84175,EAW84176,EAW84177,EAW84178,BAA96042,BAG06864,BAA90882,BAA92081,BAB14531,CAB55958,AAT57879,AAH82762,AAH98105,AAH98286,AAH98312,AAI05990,CAG33669,Q63ZY3,Q9NXX5,Q9UFS0 Hs.284208,Hs.706383 ANKRD25|DKFZp434N161|FLJ20004|KIAA1518|MGC119707|MXRA3|SIP ankyrin repeat domain 25 protein-coding 1602171 KANK3 KN motif and ankyrin repeat domains 3 17996375,15489334,14702039,12477932,9110174,8619474 256949 NM_198471,AC010323,CH471139,AB284126,AK128815,AY203940,BC035849,BC066124,BC066775 NP_940873,EAW68932,BAG06865,BAC87620,AAP34463,AAH35849,AAH66124,AAH66775,Q6NY19,Q6XYD0 Hs.591401 ANKRD47|FLJ46061 ankyrin repeat domain 47 protein-coding 1603552 KANK4 KN motif and ankyrin repeat domains 4 17996375,16710414,15489334,14702039,12477932 163782 NM_181712,AL139343,AL162739,CH471059,AB284127,AK091941,AK096259,AK127461,AL832644,BC033147,BC041418,BC060866 NP_859063,EAX06587,EAX06588,EAX06589,BAG06866,BAC03774,BAC04741,CAD89966,AAH41418,AAH60866,Q5T7N3,Q5T7N4,Q5T7N5,Q5T7N6,Q8N8S2 Hs.283398 ANKRD38|FLJ10884|KIAA0172|RP5-1155K23.5|dJ1078M7.1 ankyrin repeat domain 38 protein-coding 1345099 KARS lysyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis 1580863 10952987,9278442,18272479,17724017,17560997,16702215,16169070,15489334,15220430,12869526,12819782,12756246,12729910,12477932,11829477,11333884,9878398,9525626,8812440,7584044,1651330,15183344,15078180,15888436,16120388,15142377,16189514,15479637 3735 AK126584,BC004132,BC013246,CR593300,CR601961,CR604139,CR608423,CR611117,CR617122,CR622561,D31890,D32053,NM_005548,AC025287,CH471114,AF285758 BAC86604,AAH04132,BAA06688,BAA22084,Q15046,Q6ZTI3,Q9HB23,ABM83227,ABM86426,NP_005539,EAW95619,EAW95620,EAW95621,EAW95622,EAW95623,EAW95624,AAG30114 Hs.3100 GDB:595484 KARS2|KIAA0070|KRS protein-coding 1353857 KATNA1 katanin p60 (ATPase-containing) subunit A 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. 1580863 10751153,15489334,14574404,12477932,11870226,10445032,10209026,9658175,9568719,8907702,8221885 11104 BX276089,CH471051,AF056022,AK292090,BC050428,CR590166,CR600129,CR601101,AL078581,NM_007044 CAI19506,CAI19507,CAI16431,CAI16432,CAI16433,CAI16434,EAW47793,EAW47794,EAW47795,AAC25114,BAF84779,AAH50428,O75449,NP_008975,CAI19504,CAI19505 Hs.450175 GDB:9956798 protein-coding 1346255 KATNAL1 katanin p60 subunit A-like 1 737633,1580863 16189514,15489334,15057823,14702039,14623284,12477932,7829101 737633 84056 NM_032116,NM_001014380,AL356750,CH471075,AK097423,AK291439,AW019882,BC000612,BX647147 NP_115492,NP_001014402,CAI13718,CAI13720,EAX08452,EAX08453,BAF84128,AAH00612,Q5T558,Q9BW62,ABM83565,ABM86803 Hs.243596 MGC2599 protein-coding 1350599 KATNAL2 katanin p60 subunit A-like 2 737633,1580863 12477932 737633 83473 NM_031303,AC012254,AC090373,CH471096,AL512748,BC034999,CR593634 NP_112593,EAW62901,EAW62902,EAW62903,EAW62904,CAC21672,AAH34999,Q8IYT4,Q9H038 Hs.404137 DKFZP667C165|MGC33211 protein-coding 1322615 KATNB1 katanin p80 (WD repeat containing) subunit B 1 Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. 1580863 10751153,17081983,16203747,15489334,15215300,12477932,10209026,9658175,9568719,8907702,8221885,6646120 10300 NM_005886,AC018552,AC092118,CH471092,AB209250,AF052432,BC001353,BT007022,BU501165,CA306372,CR456762 NP_005877,EAW82950,EAW82951,EAW82952,BAD92487,AAC09328,AAH01353,AAP35668,CAG33043,Q59G59,Q9BVA0,ABM81693 Hs.275675 GDB:9956208 KAT protein-coding 1321754 KAZALD1 Kazal-type serine peptidase inhibitor domain 1 737633,1580863 15555553,15489334,15340161,15261838,15164054,14702039,12975309,12477932,9373149,8125298 737633 81621 AL133215,CH471066,AF333487,AK172862,AK172864,AK225949,AY014271,AY359087,BC007758,NM_030929 Q96I82,NP_112191,CAI10937,CAI10938,EAW49782,EAW49783,EAW49784,EAW49785,AAG50291,BAD18818,AAG50354,AAQ89445,AAH07758,ABM83683,ABM86979 Hs.534859,Hs.632079 BONO1|FKSG28|FKSG40|FLJ24094|IGFBP-rP10|RP11-108L7.10|bA108L7.1 kazal-type serine protease inhibitor domain 1 protein-coding 1351992 KBTBD10 kelch repeat and BTB (POZ) domain containing 10 737633,1580798,1580863 9655184,16396496,15489334,12477932,11583900,10713668,8889549 737633,1580798 10324 NM_006063,AC093899,CH471058,AA194290,AF056929,AF333387,AY364252,BC006534 NP_006054,AAY24117,EAX11275,AAC13686,AAG52886,AAQ76811,AAH06534,O60662,Q3ZTS6,Q53R42,ABM86980,ABW03848 Hs.50550 SARCOSIN protein-coding 1604839 KBTBD11 kelch repeat and BTB (POZ) domain containing 11 15592455,14508709,9872452,9314494 9920 NM_014867,AC019257,CH471181,AB018254,AF009203,AY762229 NP_055682,EAW51487,BAA34431,AAW83120,O94819,Q3L1I0 Hs.5333 KIAA0711|KLHDC7C protein-coding 1321151 KBTBD2 kelch repeat and BTB (POZ) domain containing 2 1580863 15489334,12477932,10819331,10810093 25948 NM_015483,AACC02000103,AC018648,CH471073,AB040922,AF004292,AF151831,AF161402,AK024557,AK024577,AK292802,AL117562,BC014633,BC032367,BC035171,BC037887,BC047107,CR595245 NP_056298,EAL24459,EAW94000,EAW94001,EAW94002,BAA96013,AAD34068,AAF28962,BAF85491,CAB55994,AAH37887,AAH47107,Q8IY47,Q9P097 Hs.372541,Hs.589128 BKLHD1 protein-coding 1322060 KBTBD3 kelch repeat and BTB (POZ) domain containing 3 15489334,14702039,12477932 143879 NM_152433,NM_198439,AP001001,CH471065,AK055247,AK092993,AK124540,AK289915,BC047311,BC062667,BC107691,BC117466,BX640672,BX647830,CD104687 NP_689646,NP_940841,EAW67072,EAW67073,EAW67074,EAW67075,EAW67076,BAB70888,BAC04012,BAF82604,AAI07692,AAI17467,CAE45804,Q3B7C0,Q6N066,Q8NAB2 Hs.101949 BKLHD3|FLJ30685 protein-coding 1321017 KBTBD4 kelch repeat and BTB (POZ) domain containing 4 15489334,14702039,12477932,11042152,9373149 55709 NM_018095,NM_016506,AC104942,CH471064,AF151086,AK001312,AK001749,AK091607,AK222550,AK222985,AK225062,AL713735,BC002736,BC024968,CR457270,CR611741,CR616082 NP_060565,NP_057590,EAW67898,EAW67899,EAW67900,EAW67901,EAW67902,EAW67903,AAF36172,BAA91616,BAA91880,BAD96270,CAD28521,AAH02736,AAH24968,CAG33551,Q53GE6,Q53HN0,Q8TB35,Q9NVX7,Q9P0M7 Hs.656205,Hs.681790 BKLHD4|FLJ10450|HSPC252 protein-coding 1313352 KBTBD5 kelch repeat and BTB (POZ) domain containing 5 15489334,14702039,12477932 131377 NM_152393,AC006059,CH471055,AI659482,AK056577,AK291294,AY176040,AY177390,BC110491 NP_689606,EAW64664,EAW64665,BAB71222,BAF83983,AAO22141,AAO06908,AAI10492,Q2TBA0 Hs.350288 FLJ32015|MGC125350|SRYP protein-coding 1346287 KBTBD6 kelch repeat and BTB (POZ) domain containing 6 737633 15489334,14702039,12477932 737633 89890 NM_152903,AL354696,AL359577,AK023475,AK056633,AK095195,AK096608,AL833839,BC000560,BC051349,BU928896,CD109431,CD557535,CR749688 NP_690867,CAI16611,BAB71238,BAC04826,CAD38699,AAH00560,AAH51349,Q5T6Y8,Q86V97 Hs.534040,Hs.679275 DKFZp547E1912|DKFZp547M073 protein-coding 1312909 KBTBD7 kelch repeat and BTB (POZ) domain containing 7 737633 16381901,16189514,16169070,15489336,15489334,14702039,12477932,11230166,11076863 737633 84078 BC022033,CR533558,NM_032138,AL354696,CH471075,AK091344,AL136782 CAB66716,AAH22033,CAG38589,Q0JSR2,Q0JU98,Q6FI68,Q8WVZ9,CAL37913,CAL38452,ABM81764,ABM84920,NP_115514,CAI16613,EAX08647,BAC03641 Hs.63841 DKFZP434E2318 protein-coding 1606999 KBTBD8 kelch repeat and BTB (POZ) domain containing 8 15489334,14702039,12477932,11347906 84541 NM_032505,AC020655,CH471055,AB058745,AF385438,AK096640,BC117487 NP_115894,EAW65454,BAB47471,AAM43839,AAI17488,Q8NFY9 Hs.116665 KIAA1842|TA-KRP protein-coding 1315004 KCMF1 potassium channel modulatory factor 1 1580863 16314831,15581609,14702039,12810064,12477932,9110174,8619474 56888 NM_020122,AC022210,AC078974,CH471053,AB083199,AF131740,AF155652,AK023403,AL122115,AW466865,BC000178,BU844982,CR607426,CR617449,CR619076,CT004343 NP_064507,AAY24192,AAX88897,EAW99544,EAW99545,EAW99546,BAC43745,AAF67009,BAB14563,CAB59274,AAH00178,Q4ZG04,Q53SC7,Q9BWK2,Q9H8P5,Q9P0J7,Q9UFE8,ABM85005 Hs.654968 DEBT91|DKFZP434L1021|FIGC|PCMF|ZZZ1 protein-coding 1346938 KCNA1 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). 1580863 8845167,7842011,17912752,17136396,16382104,16344560,15837928,15532032,15486093,15351427,15136567,12944270,12907802,12893943,12799903,12477932,12435606,11960817,11773313,11097830,11026449,11013453,10624965,10355668,9600245,8938729,8871592,8821794,8541859,7477295,2128063,1349297,14592966 3736 AC006063,CH471116,BC101733,BC112180,DA236475,L02750,NM_000217 EAW88833,AAI01734,AAI12181,AAA36139,Q09470,Q3MIQ9,NP_000208 Hs.416139 GDB:127903 AEMK|EA1|HBK1|HUK1|KV1.1|MBK1|MGC126782|MGC138385|MK1|RBK1 protein-coding 1312242 KCNA10 potassium voltage-gated channel, shaker-related subfamily, member 10 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It is specifically regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. This gene is intronless, and the gene is clustered with genes KCNA2 and KCNA3 on chromosome 1. 1580863 9177773,16382104,12477932,12444201,12060596,10836990,7789190 3744 NM_005549,AL358215,CH471122,S77547,U96110,BC074990,CA309199 NP_005540,CAH74103,EAW56454,AAB34663,AAC51333,AAH74990,Q16322,Q7KYZ7 Hs.248140,Hs.622910 GDB:5885822 Kcn1|Kv1.8 protein-coding 735518 KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. 1580863 1715584,2251283,18053989,18042681,18003609,17959782,17576778,17234891,16382104,15588985,15215309,14592966,12944270,12911333,12815189,12477932,12435606,12395204,12151401,11739373,11401852,10896669,10624965,10516156,10428758,10428084,9878055,9635436,8938729,8889548,8662756,8636142,8002006,7905852,7477295,2722779 3737 NM_004974,AL365361,CH471122,AK290061,BC043564,BI907383,BM682747,L02752 NP_004965,CAH71982,EAW56455,EAW56456,BAF82750,AAH43564,AAA36141,P16389,Q86XG6 Hs.248139,Hs.657199 GDB:128062 HBK5|HK4|HUKIV|KV1.2|MGC50217|MK2|NGK1|RBK2 protein-coding 1342945 KCNA3 potassium voltage-gated channel, shaker-related subfamily, member 3 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. 1580863 1986382,1373731,17878353,17854350,17582781,17579055,17242956,17160583,17088564,16729292,16382104,16317062,16043714,15632141,15489334,14745040,12909584,12850541,12807917,12632187,12604782,12477932,12150982,7829094,2251283,1547020,12944270 3738 NM_002232,AL365361,CH471122,M38217,M55515,AA811374,BC035059,BC064595,CA438434,L23499,M85217 NP_002223,CAH71983,EAW56457,AAB88073,AAA36425,AAH35059,AAH64595,AAC31761,AAA59457,P22001,Q5VWN2,Q6P2D3,ABM82589,ABM85776 Hs.169948 GDB:128079 HGK5|HLK3|HPCN3|HUKIII|KV1.3|MK3|PCN3 protein-coding 731771 KCNA4 potassium voltage-gated channel, shaker-related subfamily, member 4 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influnce the duration of cardiac action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. 1580863 9786987,2001794,17959711,17156368,16637659,16382104,16308273,16169070,15136567,12860415,12435606,12065763,11997254,11744724,11723117,11389904,11352924,10428758,10428084,9581762,9024696,8938729,8601796,8449523,7905852,7477295,2263489,1986382,1487251,1362562 3739 NM_002233,AC124657,BE467209,L02751,M55514,M60450 NP_002224,AAA36140,AAA60034,AAA61275,P22459,AAI66685 Hs.592002 GDB:126730 HBK4|HK1|HPCN2|HUKII|KCNA4L|KCNA8|KV1.4|PCN2 protein-coding 731065 KCNA5 potassium voltage-gated channel, shaker-related subfamily, member 5 Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. 1580863,1627654,1627659,1627651 1986382,16780588,18218624,18209767,18083891,18068743,17868645,17428690,17344312,17267549,16956964,16902793,16765315,16729292,16466689,16411137,16382104,16236819,16051887,15735608,15623896,15588985,15353504,15217912,15140747,14578345,14527939,13679372,12970345,12850541,12815189,12601085,12477932,12435606,12130714,12021261,11389904,11149959,10921884,10812072,9760292,9271355,8953041,8821794,8242092,7838127,7615797,2001794,1349297,12860415 1627654,1627659,1627651 3741 NM_002234,AC005906,CH471116,BC096357,BC096358,BC099665,BC099666,M55513,M60451,M83254 NP_002225,EAW88830,AAH96357,AAH96358,AAH99665,AAH99666,AAA36422,AAA61276,AAA60146,P22460,Q9UDA4 Hs.150208 GDB:127904 HCK1|HK2|HPCN1|KV1.5|MGC117058|MGC117059|PCN1 protein-coding 731012 KCNA6 potassium voltage-gated channel, shaker-related subfamily, member 6 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. 1580863 2347305,18162557,16382104,15489334,12477932,8821794 3742 NM_002235,AC005833,CH471116,BC069355,X17622 NP_002226,EAW88834,AAH69355,CAA35623,P17658 Hs.306190 GDB:128080 HBK2|KV1.6 protein-coding 1320074 KCNA7 potassium voltage-gated channel, shaker-related subfamily, member 7 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. 1580863 16382104,15639836,11896454,11368907,9488722 3743 NM_031886,AC008687,CH471177,AF315818,AJ310479,AY779768 NP_114092,EAW52444,AAK63002,CAC29065,AAX11186,Q96RP8 Hs.306973 GDB:127905 HAK6|KV1.7 protein-coding 1607081 KCNAB1 potassium voltage-gated channel, shaker-related subfamily, beta member 1 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes three distinct isoforms which are encoded by three alternatively spliced transcript variants of this gene. These three isoforms are beta subunits, which form heteromultimeric complex with alpha subunits and modulate the activity of the pore-forming alpha subunits. 7499366,17913586,16344560,15489334,14702039,14592966,12477932,11401852,10756096,9857044,9341123,8938711,8838324,8636142,8001150,7890764,7890032,7649300,7603988 7881 NM_172160,NM_003471,NM_172159,AC022013,AC069413,AC084036,AC091607,AC092927,AC112772,CH471052,AI344124,AK057059,AK127240,AK292693,AK292999,AU076410,AY780786,BC043166,BQ721076,DA331209,DA408045,DC410397,L39833,L47665,U16953,U17968,U33428 NP_751892,NP_003462,NP_751891,EAW78732,EAW78733,EAW78734,EAW78735,EAW78736,BAF85382,BAF85688,AAV98356,AAH43166,AAC37573,AAC41926,AAC50122,AAC50113,AAC50953,Q14722,Q5MJQ3 Hs.654519,Hs.703187,Hs.706350 GDB:9836213 AKR6A3|KCNA1B|KV-BETA-1|Kvb1.3|hKvBeta3|hKvb3 protein-coding 1354203 KCNAB2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. 1580863 7649300,16713569,16710414,15592455,15489334,14702039,12893943,12477932,12431995,10624965,10428084,9760292,8838324,8636142,8001150 8514 NM_003636,NM_172130,AL035406,CH471130,CS252321,CS252323,AF029749,AF044253,AK124696,AK131252,AK289819,AK290044,BC110351,BC126424,BC130413,BI907219,CR542264,CR542287,U33429 NP_003627,NP_742128,CAC08512,CAI19884,CAI19885,CAI19886,CAI19887,CAI19888,CAI19889,EAW71512,EAW71513,EAW71514,EAW71515,CAJ58415,CAJ58416,AAB84170,AAB99859,BAD18431,BAF82508,BAF82733,AAI10352,AAI26425,AAI30414,CAG47060,CAG47082,AAC50955,Q13303,Q2YD85,Q5TG78,Q5TG79,Q5TG80,Q5TG81,Q5TG84,Q6FG22,Q6FG44,Q6ZNE4 Hs.440497 GDB:9836215 AKR6A5|HKvbeta2|HKvbeta2.1|HKvbeta2.2|KCNA2B|KV-BETA-2|MGC117289 protein-coding 1350747 KCNAB3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member and the KCNA5 gene product assemble into a heteromultimeric A-type channel that inactivates completely and is significantly faster than other A-type Kv channels. 1580863 9857044,17081983,15489334,12477932,8889548,7649300 9196 NM_004732,AC104581,CH471108,AF016411,AL079287,BC096232,BC096233,BC096234,BC099634,BM727261 NP_004723,EAW90112,AAB92499,AAH96232,AAH96233,AAH96234,AAH99634,O43448,Q4VAW1 Hs.435074 GDB:9955210 AKR6A9|KCNA3.1B|KCNA3B|KV-BETA-3|MGC116886 protein-coding 732211 KCNB1 potassium voltage-gated channel, Shab-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. 1580863 10484328,11852086,18212012,16880266,16382104,16008572,15827117,15353504,15024041,12615930,12560340,12477932,12403834,12060745,12021261,11780052,10921884,10551266,9362476,8980147,8670833,8081723,7774931 3745 NM_004975,AL035685,CH471077,X68302,AF026005,BC110572,BC110573,L02840 NP_004966,CAB89417,EAW75656,CAA48374,AAB88808,AAI10573,AAI10574,AAA36156,Q14721,Q2NLD5,AAI56167 Hs.84244 GDB:128081 DRK1|KV2.1|h-DRK1 protein-coding 732631 KCNB2 potassium voltage-gated channel, Shab-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. 1580863 9612272,17903301,16382104,14988243,8670833,9079713 9312 NM_004770,AC011131,AC013562,AC022881,AC022893,AC090735,CH471068,AF338730,AF450111,U69962 NP_004761,EAW86988,AAK16585,AAP46292,AAB08433,Q92953,AAI40388 Hs.661102 GDB:9955986 KV2.2 potassium voltage gated channel, shab-related subfamily, member 2 protein-coding 735437 KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Multiple transcript variants encoding different isoforms have been inferred for this gene based on orthologous loci. 1580863 8449507,1400413,16382104,16344560,14702039,12805291,12477932,12060745,7559593 3746 NM_004976,NM_001112741,AC124056,AC124078,AC124301,CH471064,AI201688,AK123157,AK124243,AK125480,AW452561,BC107129,DA495469,DN993192,L00621,M96747,S56770 NP_004967,NP_001106212,EAW68425,EAW68426,BAC85815,BAC86176,AAI07130,AAA59458,AAB25764,P48547,Q3KNS8,Q6ZUP4 Hs.552896 GDB:128082 FLJ41162|FLJ42249|FLJ43491|KV3.1|KV4|MGC129855|NGK2 protein-coding 736950 KCNC2 potassium voltage-gated channel, Shaw-related subfamily, member 2 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Three transcript variants encoding three different isoforms have been found for this gene. 1580863 16382104,14702039,12477932,8111118,12805291 3747 AC073525,AC091534,AC130405,CH471054,AB209994,AF268896,AF268897,AK094720,AY118169,AY243473,BC093635,BC111991,NM_153748,NM_139136,NM_139137 EAW97287,EAW97288,EAW97289,EAW97290,EAW97291,EAW97292,EAW97293,EAW97294,BAE06076,AAL27272,AAL27273,BAC04407,AAM81577,AAO89503,AAH93635,AAI11992,Q96PR1,NP_715624,NP_631874,NP_631875 Hs.591041 GDB:127906 KV3.2|MGC138196 protein-coding 733063 KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. 1580863 1740329,16501573,16382104,15148151,10820125,10712820,8917565,8111118 3748 NM_004977,AC008655,CH471135,Z11585,AB208930,AF055989,AK127492 NP_004968,EAW71844,CAA77671,BAD92167,AAC24118,BAC87004,Q14003,Q59H29,Q6ZSE9,AAI56303 Hs.467146 GDB:127907 KSHIIID|KV3.3|SCA13 protein-coding 1348258 KCNC4 potassium voltage-gated channel, Shaw-related subfamily, member 4 The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Several transcript variants encoding different isoforms have been found for this gene. 1580863 1920536,1381835,16710414,16449802,16382104,15489334,15485486,12477932,9649584,7993631,1740329 3749 NM_004978,NM_001039574,NM_153763,AL137790,CH471122,AK125567,BC025377,BC101769,BF969982,BX098184,BX537638,M64676 NP_004969,NP_001034663,NP_720198,CAI18831,EAW56433,EAW56434,EAW56435,EAW56436,AAI01770,AAA57263,Q03721 Hs.153521 GDB:127908 HKSHIIIC|KSHIIIC|KV3.4|MGC126818 protein-coding 1347714 KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This gene is expressed at moderate levels in all tissues analyzed, with lower levels in skeletal muscle. 724442,1581430 16382104,15955806,15489334,15454437,14702039,12477932,11423117,10729221,10479680 724442,1581430 3750 NM_004979,AF166006,AF207550,CH471224,AB021865,AF166003,AJ005898,AK094431,BC045659 NP_004970,AAF65617,EAW50720,EAW50721,BAA96454,AAF65516,CAA06755,AAH45659,Q9NSA2 Hs.55276 GDB:128083 KV4.1 protein-coding 68574 KCND2 potassium voltage-gated channel, Shal-related subfamily, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. 1581430,1580863 11287421,11102480,12493773,17981906,17102134,16934482,16820361,16382104,16260497,15991246,15563876,15489334,15454437,15358149,15184042,14980207,14980201,14623880,14559911,12853948,12690205,12477932,12451113,12435606,11847232,11606724,10942109,10729221,10676964,10551270,10479680,10470851,9843794 1581430 3751 AC004888,AC004946,AC006332,AC007026,AC073884,AC092020,AF142568,AF166007,AF166008,CH236947,CH471070,AB028967,AF121104,AJ010969,BC110449,BC110450,NM_012281 AAC83405,AAS07530,AAD52159,AAF65618,EAL24350,EAW83541,BAA82996,AAD22053,CAB56841,AAI10450,AAI10451,Q75LS7,Q9NZV8,NP_036413 Hs.654739 GDB:134771 KIAA1044|KV4.2|MGC119702|MGC119703|RK5 protein-coding 68576 KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. 1581430 8734615,17725712,17506992,16782062,16710414,16382104,15890703,15578212,15563876,15498806,14980207,14645239,12928444,12477932,12297301,10942109,10729221,10200233,9843794 1581430 3752 NM_172198,NM_004980,AF137071,AF166009,AF166011,AL049557,AL390070,AL450997,AL512665,CH471122,AF048712,AF048713,AF120491,AF187963,AF187964,AF205856,AF205857,BC113475,BC113477 NP_751948,NP_004971,AAF68177,AAF68178,EAW56510,EAW56511,EAW56512,AAC05121,AAC05122,AAD38898,AAF01044,AAF01045,AAF20924,AAF20925,AAI13476,AAI13478,Q5T0M1,Q9UK17 Hs.666367 GDB:134772 KCND3L|KCND3S|KSHIVB|KV4.3|MGC142035|MGC142037 protein-coding 736969 KCNE1 potassium voltage-gated channel, Isk-related family, member 1 The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. 1580498,1580499,1580863,1580502 9354802,9230439,9020846,8900283,9445165,16780588,18426444,18279388,18079560,17980676,17905336,17892302,17646758,17626898,17545244,17534376,17443681,17384445,17341399,17310097,17275752,17227789,17210839,17165161,17141204,17065152,17016049,16823764,16818214,16631607,16610241,16563243,16487842,16487223,16414944,16374062,16344560,16308347,16303284,16266404,16155735,16132053,15840476,15746444,15698834,15489334,15389592,15176425,15051636,14761891,14760488,14702039,14661677,14527430,12634932,12477932,12228786,12084623,11891569,11874988,11799244,11714488,11697903,11692163,11289718,11104781,10973849,10830953,10493825,10400998,9354783,9328483,9312006,8899564,8432548,7828904,7622063,2730656 1580498,1580499,1580502 3753 NM_000219,NM_001127668,NM_001127669,NM_001127670,AP000324,AP000325,AP000326,CH471079,L33815,M26685,AF135188,AK095442,AK311384,AK313543,AY789479,AY789480,BC036452,BC046224,BC069055,CD370857,CR541756,DB089177,EU008568,EU008569,EU008570,L28168 NP_000210,NP_001121140,NP_001121141,NP_001121142,EAX09783,AAA63905,AAA36129,AAD25096,BAG36319,AAX11417,AAX11418,AAH36452,AAH46224,CAG46556,ABS31132,ABS31133,ABS31134,AAA58418,P15382,Q5DI96,Q6FHJ6 Hs.121495 GDB:127909 FLJ18426|FLJ38123|FLJ94103|ISK|JLNS|JLNS2|LQT2/5|LQT5|MGC33114|MinK protein-coding 1345038 KCNE1L KCNE1-like Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. 1580863 10493825,18313602,16303284,16054468,15489334,15368194,15193977,12477932,9373149,8125298 23630 NM_012282,AL118496,CH471120,DQ784807,AF086499,AJ012743,AK223306,BC035330,DQ192294,EF535525 NP_036414,CAD19002,EAX02676,ABQ01242,CAB58359,BAD97026,AAH35330,ABB00307,ABQ08564,Q2N1H9,Q53FI0,Q5JWV7,Q9UJ90,ABM82213,ABM85397,ABM87648,ABM87655,ABM87658,ABM87663 Hs.522753 GDB:11500708 KCNE5 protein-coding 731917 KCNE2 potassium voltage-gated channel, Isk-related family, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. 633041,1580501,1580502,1580863 10219239,16780588,18221016,17905336,17676362,17534376,17310097,17275752,17210839,16818214,16631607,16487842,16487223,16414944,16303284,15840476,15746444,15489334,15368194,15176425,15066947,15051636,14760488,14661677,12923204,12856183,12477932,12185453,11874988,11329013,11313306,11289718,11278781,11101505,11034315,10830953 633041,1580501,1580502 9992 NM_172201,AP000320,CH471079,DQ784804,AF071002,AF086086,AF302095,BC093892,BC112087,BG221966,DQ192290 NP_751951,EAX09790,EAX09791,ABQ01239,AAD28086,AAG13416,AAH93892,AAI12088,ABB00303,Q2N1I3,Q9Y6J6 Hs.551521,Hs.679753 GDB:9958562 LQT5|LQT6|MGC138292|MIRP1 protein-coding 1347000 KCNE3 potassium voltage-gated channel, Isk-related family, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. 633041,1600040,1580863 17495071,16782062,16449802,16374062,16341674,16308347,16303284,15489334,15037716,12477932,12414843,11956246,11874988,11680623,11207363,11104781,10646604,10219239,8889548 633041,1600040 10008 NM_005472,AP001372,CH471076,DQ784805,AF076531,AF302494,BC032235,BC110612,BC113743,BM757131,CD709836,CK301015,CR457209,CR936625,DQ192291,DQ192292,DR006135 Q9Y6H6,ABM81941,NP_005463,EAW74938,ABQ01240,AAD28089,AAG16255,AAI10613,AAI13744,CAG33490,CAI56768,ABB00304,ABB00305,Q2N1I1,Q6IAE6 Hs.523899 GDB:9954876 DKFZp781H21101|HOKPP|MGC102685|MGC129924|MiRP2 protein-coding 1346142 KCNE4 potassium voltage-gated channel, Isk-related family, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. 633041,1580863 18279388,17016049,16563243,16303284,15815621,15707997,15489334,15342556,12944270,12670483,12477932,12096056,10219239,8889548 633041 23704 BP362695,DQ192293,NM_080671,AC017014,CH471063,DQ784806,AY065987,BC014429,BM662449,BP348485,BP359441 ABB00306,Q2N1I0,Q8WWG9,ABM83442,ABW03499,NP_542402,AAX93228,EAW70810,ABQ01241,AAL49979,AAH14429 Hs.348522 GDB:10794652 MGC20353|MIRP3 protein-coding 735852 KCNF1 potassium voltage-gated channel, subfamily F, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. 1580863 9434767,16382104,15489334,12477932,12060745 3754 NM_002236,AC019041,CH471053,AF029780,AF033382,BC026110 NP_002227,AAX81991,EAX00946,AAG43055,AAC05597,AAH26110,Q585L3,Q9H3M0,ABW03736 Hs.23735 GDB:137327 IK8|KCNF|KV5.1|MGC33316|kH1 protein-coding 1604067 KCNG1 potassium voltage-gated channel, subfamily G, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. 9434767,16382104,16344560,15489334,15146197,12477932,11780052,8980147 3755 NM_172318,AL050404,AL121785,CH471077,AF033383,AK290689,AW162513,BC006367,BC046629,BG029104,CN301212,CN480356,DA576272,DA580190,DA684016,NM_002237 NP_002228,NP_758529,CAB51753,CAI23445,CAI23446,EAW75605,AAC05635,BAF83378,AAH06367,AAH46629,Q5JXL4,Q5JXL5,Q86Y85,Q9UIX4 Hs.695026,Hs.118695 GDB:137328 K13|KCNG|KV6.1|MGC12878|kH2 protein-coding 1319904 KCNG2 potassium voltage-gated channel, subfamily G, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. 1580863 10551266,16382104 26251 NM_012283,AC114341,AJ011021 NP_036415,CAB56834,Q9UJ96 Hs.247905 GDB:10795440 KCNF2|KV6.2 protein-coding 735863 KCNG3 potassium voltage-gated channel, subfamily G, member 3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. 727345,1580863 11852086,12060745,16382104,15489334,15046870,12477932 727345 170850 NM_133329,NM_172344,AC025750,CH471053,AB070604,AF348982,AF450110,AF454547,AF454548,BC071558 NP_579875,NP_758847,AAY24039,EAX00318,EAX00319,BAB85520,AAL83909,AAP46291,AAM93548,AAM93549,AAH71558,Q53SC1,Q71ME5,Q8TAE7 Hs.352633 GDB:11506169 KV10.1|KV6.3 protein-coding 1318394 KCNG4 potassium voltage-gated channel, subfamily G, member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. 1580863 16382104,16096342,15489334,12477932,12060745 93107 NM_172347,NM_133490,AC009123,CH471114,AF348984,AF450108,BC008969,BC109203 NP_758857,NP_597997,EAW95488,EAW95489,EAW95490,AAL83911,AAP46289,AAH08969,AAI09204,Q32MC1,Q547S7,Q8TDN1,ABM84180,ABM87582 Hs.335877 KV6.3|KV6.4|MGC129609|MGC4558 protein-coding 68584 KCNH1 potassium voltage-gated channel, subfamily H (eag-related), member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. 1580863 9738473,18222922,17873312,17520698,17451210,17360457,17022811,16537547,16478480,16382104,15548764,15466192,12477932,12060745,11943152,11834728,10880439,10523298,9722534,8159766 3756 NM_172362,NM_002238,AC092017,AC096636,AC099755,AL590132,AL603791,CH471100,AF078741,AF078742,AJ001366,BC113709 NP_758872,NP_002229,EAW93424,EAW93425,AAC68668,AAC68669,CAA04700,AAI13710,O95259,Q5VUD9,Q5VUE0 Hs.662282 GDB:138125 EAG|EAG1|Kv10.1|MGC142269|h-eag protein-coding 732101 KCNH2 potassium voltage-gated channel, subfamily H (eag-related), member 2 This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. 1580503,1580863,1580502 16880338,16818214,16771953,16769794,16723117,16556651,16550488,16524878,16506891,16487842,16487223,16474003,16472284,16467651,16432067,16414944,16407206,16399053,16382104,16265378,16263765,16253915,16244363,16166152,16155735,16132053,16011830,15973763,15961404,15851119,15840476,15828882,15800067,15778703,15760896,15746444,15699249,15572050,15534720,15528201,15522280,15489334,15475579,15367556,15365637,15365094,15364333,15304481,15231497,15211519,15202000,15181157,15176425,15120823,15051636,14998624,14975928,14973143,14760488,14744775,14714110,14676148,14674677,14661677,14525949,12902341,12885765,12853948,12849668,12829173,12804575,12736144,12695533,12690509,12690205,12634931,12626667,12621127,12593854,12560090,12527373,12477932,12442276,12431979,12427763,12402336,12354768,12270925,12209010,12151390,12142119,12063277,12062363,12021266,11997281,11953308,11864985,11854117,11743032,11741928,11374908,11289718,11278781,11170080,11136691,10996323,10973849,10862104,10862094,10837251,10790218,10735633,10517660,10220144,10219239,10187793,10086971,9845367,9765245,9714291,9693036,9600240,9544837,9511785,9509262,9351462,9351446,9230439,9024139,8914737,8877771,8635257,8587608,8159766,7889573,7842012,7604285,7736582,18441445,18426444,18349188,18222980,18209470,18192214,18191158,18162604,18096051,18048364,18042732,17976575,17905336,17852802,17823114,17763876,17762170,17709632,17693551,17624316,17576861,17569659,17560885,17534376,17531263,17516459,17444521,17429906,17420287,17363390,17311278,17293393,17275752,17272276,17239714,17227789,17210839,17171344,17120019,17056009,17042915,16923798,16914520,16883575 1580503,1580502 3757 AY380055,AY380056,CH471173,CS114788,CS114790,CS124199,CS124201,AB044806,AF052728,AF363636,AJ512214,AJ609614,BC001914,BC004311,BC127673,BQ890248,BT007336,CR616390,DQ120124,DQ120125,DQ525913,U04270,NM_000238,NM_172057,NM_172056,AACC02000108,AB009071,AC006343,AC011234,AJ010538,AY380044,AY380045,AY380046,AY380047,AY380048,AY380049,AY380050,AY380051,AY380052,AY380053,AY380054 AAQ91599,AAQ91600,AAQ91601,EAW54071,EAW54072,EAW54073,EAW54074,EAW54075,CAJ13411,CAJ13412,CAJ18800,CAJ18801,BAB19682,AAC69709,AAL37559,CAD54447,CAE82156,AAH01914,AAH04311,AAI27674,AAP36000,AAZ40507,AAZ40508,ABF71886,AAA62473,Q12809,Q15BH2,Q45QN4,Q45QN5,Q6U279,Q6U283,Q6U287,Q708S9,Q75MK8,Q75MK9,Q86U57,NP_000229,NP_742054,NP_742053,EAL24491,EAL24492,EAL24493,BAA37096,AAS07566,AAS07567,CAA09232,AAQ91589,AAQ91590,AAQ91591,AAQ91592,AAQ91593,AAQ91594,AAQ91595,AAQ91596,AAQ91597,AAQ91598 Hs.647099 GDB:138126 ERG1|HERG|HERG1|Kv11.1|LQT2|SQT1 protein-coding 733984 KCNH3 potassium voltage-gated channel, subfamily H (eag-related), member 3 70783,1580863 10455180,16382104,12890647,10574462 70783 23416 AB022696,AB033108,BC033141,NM_012284,AC020612,CH471111 EAW58073,EAW58074,BAA83590,BAA86596,AAH33141,Q8N500,Q9ULD8,NP_036416 Hs.64064 GDB:9956529 BEC1|ELK2|KIAA1282|Kv12.2 protein-coding 733889 KCNH4 potassium voltage-gated channel, subfamily H (eag-related), member 4 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. 70783,1580863 10455180,16382104,12890647 70783 23415 NM_012285,AC099811,CH471152,AB022698 NP_036417,EAW60809,BAA83592,Q9UQ05,AAI40293 Hs.304081 GDB:9956528 BEC2|ELK1|Kv12.3 protein-coding 731415 KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not expressed in differentiating myoblasts. Alternative splicing results in three transcript variants encoding distinct isoforms. 1580863 16382104,16303743,15489334,14702039,12477932,12135768,11943152,10524757,9738473 27133 NM_172375,NM_139318,NM_172376,AL109985,AL132666,AL137191,AL355101,CH471061,AF418206,AF472412,AF493798,AK074484,AW628656,BC043409,BC073979,BU147537,U69185 NP_758963,NP_647479,NP_758964,EAW80818,EAW80819,AAM28435,AAM49565,AAM49574,BAC11016,AAH43409,AAH73979,Q86XI1,Q8NCM2 Hs.27043 GDB:10796032 EAG2|H-EAG2|Kv10.2 protein-coding 737542 KCNH6 potassium voltage-gated channel, subfamily H (eag-related), member 6 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. 1580863 16382104,15489334,14702039,12634931,12477932,10414305 81033 NM_173092,NM_030779,AC113554,CH471109,AF311913,AK090969,AK091877,BC006334 NP_775115,NP_110406,EAW94308,EAW94309,EAW94310,AAG40871,BAC03559,BAC03764,AAH06334,Q9H252 Hs.591177 GDB:11509016 ERG2|HERG2|Kv11.2 eag-related gene member 2 protein-coding 734396 KCNH7 potassium voltage-gated channel, subfamily H (eag-related), member 7 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. 1580863 18285833,16382104,15961404,12634931,12477932,10414305 90134 AK098545,BC035815,NM_033272,NM_173162,AC007740,AC010876,AC011900,AC093082,AC104822,AC139719,CH471058,AF032897 AAH35815,Q53QU4,Q53TB7,Q53TP9,Q8IV15,Q9NS40,NP_150375,NP_775185,AAX93153,AAX93139,AAY24106,EAX11346,AAD01946 Hs.657413 GDB:11509018 ERG3|HERG3|Kv11.3|MGC45986 potassium channel erg3 protein-coding 1352658 KCNH8 potassium voltage-gated channel, subfamily H (eag-related), member 8 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. 1580863 16382104,12890647,12477932,11897058 131096 NM_144633,AC015542,AC061958,AC099538,AC116098,AC135452,AC138315,CH471055,AB209053,AY053503,BC031226 NP_653234,EAW64296,EAW64297,BAD92290,AAL15429,AAH31226,Q4G133,Q59GQ6,Q96L42,AAI52894 Hs.475656 GDB:11509020 ELK|ELK1|Kv12.1|elk3 protein-coding 732298 KCNIP1 Kv channel interacting protein 1 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Alternative splicing results in multiple transcript variant encoding different isoforms. 1580863 10676964,17057713,16112838,15489334,15358149,15184042,14980207,14572458,12829703,12477932,12136098,11423117,11287421 30820 NM_001034838,NM_001034837,NM_014592,AC008619,AC008719,AC027306,AC027312,AC034199,AC113432,AC134820,AJ324960,CH471062,AF199597,AK074390,AK124041,AY170821,AY780424,BC035032,BC050375,CR602258,CR602352,DQ148476,DQ148477,DQ148478,DQ148479 NP_001030010,NP_001030009,EAW61470,EAW61471,AAF33682,BAC85758,AAN77491,AAV51968,AAH50375,AAZ77793,AAZ77794,NP_055407,AAZ77795,AAZ77796,Q3YAD0,Q3YAD1,Q3YAD2,Q3YAD3,Q6ZVV2,Q9NZI2 Hs.484111,Hs.689588 GDB:11500839 KCHIP1|MGC95|VABP kv channel-interacting protein 1 protein-coding 734096 KCNIP2 Kv channel interacting protein 2 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. 737786 11287421,10676964,16951992,16820361,16381901,16177826,16112838,15578212,15498806,15489336,15489334,15358149,15356203,14980201,14702039,14623880,12928444,12829703,12477932,12297301,12135940,11747815,11684073,11351020,11263977,11230166,11076863,17353931,15184042 737786 30819 NM_173193,NM_173195,NM_173192,NM_014591,NM_173191,NM_173194,NM_173197,AC010789,AY026329,AY026330,AY026331,CH471066,AB044584,AB044585,AF199598,AF295076,AF295530,AF347114,AF367018,AF367019,AF367020,AF367021,AK027347,AK055089,AK094668,AK125382,AK130689,AL136722,AY026328,AY302141,BC034685,BG911444,CR599605,CR610606,DQ148480,DQ148481,DQ148482,DQ148483,DQ148484,DQ862463,AJ276317 NP_775285,NP_775287,NP_775284,NP_055406,NP_775283,NP_775286,NP_775289,AAK21972,EAW49730,EAW49731,EAW49732,EAW49733,EAW49734,EAW49735,EAW49736,EAW49737,EAW49738,EAW49739,EAW49740,BAA96740,BAA96741,AAF33683,AAG02120,AAG02121,AAK70356,AAK53707,AAK53708,AAK53709,AAK53710,CAB77054,BAB55052,CAB66656,AAK07674,AAP57633,AAH34685,AAZ77797,AAZ77798,AAZ77799,AAZ77800,AAZ77801,ABI51986,Q09MK0,Q0JUW7,Q3YAC5,Q3YAC6,Q3YAC7,Q3YAC8,Q3YAC9,Q9NS61,CAL37694 Hs.97044 GDB:11500670 DKFZp566L1246|KCHIP2|MGC17241 kv channel-interacting protein 2 protein-coding 735835 KCNIP3 Kv channel interacting protein 3, calsenilin This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 10078534,10900016,18269347,17962406,17102134,16840549,16306395,16189514,16177826,16112838,15815621,15770150,15489334,15086516,14720210,14702039,12837631,12829703,12648752,12477932,12451113,12217801,12207970,12198160,12006572,11988022,11792319,11535596,11278424,11259376,11094064,11072133,10676964,9819380,9771752,15184042 30818 NM_013434,NM_001034914,AC009238,CH471219,AF120102,AF199599,AF367022,AJ131730,AK095539,BC012850,BI755669,BT020075,BX491997,DQ148485,DQ148486 NP_038462,NP_001030086,AAY14752,EAX10723,EAX10724,EAX10725,EAX10726,EAX10727,AAD20350,AAF33684,AAK53711,CAB56835,CAB56836,AAH12850,AAV38878,AAZ77802,AAZ77803,Q3YAC3,Q3YAC4,Q9Y2W7,ABM83004,ABM86197,ABM86242 Hs.437376 GDB:11500718 CSEN|DREAM|KCHIP3|MGC18289 calsenilin, presenilin binding protein, ef hand transcription factor protein-coding 733209 KCNIP4 Kv channel interacting protein 4 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 17353931,18269347,17981209,16951992,16112838,15815621,15489334,12477932,11847232,11805342,15184042 80333 NM_147181,NM_025221,NM_147182,NM_001035003,NM_001035004,NM_147183,AC096576,AC097505,AC098597,AC104065,AC107462,AC108147,AC109360,AC109636,AC110296,AC110612,AC113606,AC116641,AF453244,CH471069,AF302044,AF305072,AF367023,AF367024,AF453246,AK289661,AK289922,AK290998,AY029176,AY118170,BC032520,BI596848,BX648990,CR610239,DQ148487,DQ148488,DQ148489,DQ148490,DQ148491,DQ148492 NP_671710,NP_079497,NP_671711,NP_001030175,NP_001030176,NP_671712,AAY40911,AAY40952,AAL86767,EAW92797,EAW92798,AAG36977,AAK53712,AAK53713,AAL86769,BAF82350,BAF82611,BAF83687,AAK31594,AAM81578,AAH32520,AAZ77804,AAZ77805,AAZ77806,AAZ77807,AAZ77808,AAZ77809,Q3YAB7,Q3YAB8,Q3YAB9,Q3YAC0,Q3YAC1,Q3YAC2,Q4W5B5,Q6PIL6,Q8TDF2,ABZ92064,AAG36974 Hs.655705 CALP|KCHIP4|MGC44947 potassium channel interacting protein 4 protein-coding 732016 KCNJ1 potassium inwardly-rectifying channel, subfamily J, member 1 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. 729173,1580799,1580863 9015377,18443236,18391953,18211905,17401586,17380208,16382105,15987778,15895241,15489334,14604981,12684516,12589089,12477932,12381810,12221079,9727001,16428287,9099852,9002665,8841184,8621594,8190102,7929082,7680431,7635463 729173,1580799 3758 S78737,U03884,U12541,U12542,U12543,U12544,U12545,BE466312,NM_153764,NM_153766,NM_153765,NM_153767,NM_000220,AP000920,AP001122,CH471065,U65406,BC063109,BC074752 AAB35012,AAA20594,AAA61712,AAA61713,AAA61714,AAA61715,AAA61716,P48048,NP_722448,NP_722450,NP_722449,NP_722451,NP_000211,EAW67721,EAW67722,EAW67723,EAW67724,EAW67725,AAC51220,AAC51221,AAC51222,AAH74752 Hs.527830 GDB:204206 KIR1.1|ROMK|ROMK1 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 731912 KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10 This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. 1580863 8995301,18391953,18191638,17727731,17122384,16710414,16382105,15911117,15725393,15489334,15120748,12923169,12477932,12456399,12401729,11927671,10659995,10479680,9647694,9367690,16189514,9148889 3766 NM_002241,AF344826,AF482710,AL121987,AL513302,CH471121,U73192,BC034036,BC037840,BC131627,BE466069,U52155,U73193 AAC50924,P78508,Q547K1,Q9BXC5,ABM83318,ABM86533,NP_002232,AAK27517,AAL89708,EAW52748,EAW52749,EAW52750,AAC50923,AAH34036,AAI31628,AAB07046 Hs.408960 GDB:3750203 BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1 protein-coding 69098 KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). 1625277,1580863,1625256,1625279,1598644,1598645 18162506,18159846,17994213,17978456,17977958,17976307,17965318,17965292,17923772,17922473,17919178,17901525,17898091,17894829,17890419,17855752,17825556,17823772,17720745,17704299,17668386,17659066,17652641,17635943,17601994,17570749,17535866,18162508,12860923,8923010,15115830,18073297,15583126,18426861,18290324,18281290,18243136,17446535,17395632,17380317,17378627,17342155,17327377,17316607,17296510,17259403,17259376,17257281,17213273,17192490,17192350,17137217,17065345,17047922,17021801,17020404,16873704,16733889,16732049,16731860,16731833,16670688,16636122,16609879,16595597,16455067,16429405,16416420,16382105,16367885,16357843,16339180,16332676,16320083,16142506,16087682,15998776,15983208,15962003,15956217,15930170,15855351,15842514,15838686,15807877,15797964,15784703,15760904,15735229,15718250,15580558,17475937,17463248,15579791,15579781,15562009,15504982,15489334,15448107,15448106,15292329,15111507,15004210,14988278,14871556,14681552,14656703,14642445,14551916,14514649,12934053,12819904,12540638,12540637,12524280,12477932,12388475,12364426,12356945,12351459,12213829,12199344,12196481,11825905,11424233,11318841,10391210,10338089,10204114,9703328,9144288,9032109,8897013,8549873,7847376,7502040,12941953,12145195,11136227,10559219 1625277,1625256,1625279,1598644,1598645 3767 NM_000525,AC124798,CH471064,D50582,AI377272,BC040617,BC064497,BC112358,BE019467 NP_000516,EAW68438,BAA09131,AAH40617,AAH64497,AAI12359,Q14654,Q8IW96 Hs.248141 GDB:7009893 BIR|HHF2|IKATP|KIR6.2|MGC133230|PHHI|TNDM3 protein-coding 733298 KCNJ12 potassium inwardly-rectifying channel, subfamily J, member 12 This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580800,1581471,1580863 7859381,8647284,18391953,16382105,16373386,16344560,16258766,15958527,15489334,15024025,14960569,14702039,12794312,12598232,12477932,12417321,12034888,12032359,11181181,9533018,9430667,9027495,5024025 1580800,1581471 3768 NM_021012,AB074970,AB181299,AC068418,CH471221,U53143,AB182123,AF005214,BC027982,BM799671,DA115102,L36069 NP_066292,BAC02718,BAD22701,EAW49109,AAC50615,BAD23901,AAC01951,AAH27982,AAA65122,Q14500,Q6L5N3 Hs.200629 GDB:4583927 FLJ14167|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x protein-coding 734216 KCNJ13 potassium inwardly-rectifying channel, subfamily J, member 13 1580863 9738472,18391953,18179896,18094146,18035352,16382105,16344560,15557460,15489334,12477932,10455019,9878260,9786970,9620703 3769 NM_002242,AC064852,AF082182,CH471063,AF061118,AJ006128,AJ007557,AY758240,AY758241,BC037290,CB410257,DA278958,DB547266 NP_002233,AAX93190,AAD08673,EAW71019,AAC15769,CAA06878,CAA07552,AAX08098,AAX08099,AAH37290,O60928,Q53SA1,ABM82650,ABM85827 Hs.467338 GDB:9862811 KIR1.4|KIR7.1|MGC33328|SVD protein-coding 735432 KCNJ14 potassium inwardly-rectifying channel, subfamily J, member 14 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. Two transcript variants encoding the same protein have been found for this gene. 633149,1580863,1581471 9592090,18391953,17347781,16382105,15958527,15489334,12477932,11853319,10942728,10723734,8889548 633149,1581471 3770 NM_013348,NM_170720,AC008403,AF181988,CH471177,AF081466,BC032682,BC035918,BC042033,BM710116 NP_037480,NP_733838,AAF97619,EAW52348,AAD51376,AAH35918,Q9UNX9 Hs.590945,Hs.644912 GDB:9862812 IRK4|KIR2.4|MGC46111 protein-coding 731050 KCNJ15 potassium inwardly-rectifying channel, subfamily J, member 15 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Three transcript variants encoding the same protein have been found for this gene. 1580863 8995301,18391953,17122384,16382105,15489334,15068243,12477932,11927671,11804844,11306656,10830953,10479680,9882736,9647694,9299242,9037601,16189514 3772 NM_002243,NM_170736,NM_170737,AJ012369,AP001422,AP001434,AP001438,CH471079,AI344546,AK292812,BC013327,BI832561,D87291,U73191,Y10745,Y13895,Y13896 NP_002234,NP_733932,NP_733933,EAX09683,EAX09684,EAX09685,BAF85501,AAH13327,BAA13326,AAC50922,CAA71734,Q99712,ABM87860 Hs.411299 GDB:6275865 IRKK|KIR1.3|KIR4.2|MGC13584 protein-coding 1343172 KCNJ16 potassium inwardly-rectifying channel, subfamily J, member 16 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may be involved in the regulation of fluid and pH balance. Three transcript variants encoding the same protein have been found for this gene. 1580863 18391953,16382105,12923169,12477932,12456399,11988170,11306656,11240146,11060447,9882736,9373149,8125298 3773 NM_018658,NM_170741,NM_170742,AC005208,AF153814,CH471099,AF153815,AF153816,AF153817,AF179353,AK225944,AK290799,BC030961,BC033038 NP_061128,NP_733937,NP_733938,AAF73244,EAW89090,EAW89091,AAF73238,AAF73239,AAF73240,AAG09401,BAF83488,AAH33038,Q8N538,Q9NPI9,ABM83397 Hs.463985 GDB:9838005 BIR9|KIR5.1|MGC33717 protein-coding 1352992 KCNJ2 potassium inwardly-rectifying channel, subfamily J, member 2 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. 1581471,1580802 11287423,12923176,7696590,18391953,18182162,18178799,17582433,17551083,17341397,17324964,17211524,17210839,16895905,16834334,16831831,16777940,16637659,16571646,16541386,16533896,16419128,16407206,16382105,16373386,16258766,15958527,15922306,15831539,15795311,15761194,15618275,15465033,15304517,15084602,15024025,14522976,14500755,12598232,12459783,12163457,12148092,12045162,12032359,11809752,11688996,11371347,11287009,11240146,11181181,10627592,10559219,10479680,9533862,9490857,8821791,7840300,7680768,7590287 1581471,1580802 3759 NM_000891,AC005242,AF153818,AF153819,CH471099,CS173015,AF011904,AF021139,AF153820,U12507,U16861,U22413,U24055 NP_000882,AAF73242,EAW89092,CAJ33689,AAC39555,AAB88797,AAF73241,AAC50072,AAA91781,AAA64282,AAB50277,P63252,AAI52812 Hs.1547 GDB:278364 HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3 protein-coding 733789 KCNJ3 potassium inwardly-rectifying channel, subfamily J, member 3 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. 1580863 12034888,11741896,10889209,9891030,9765280,9119365,9108307,9023358,8929423,8868049,8088798,8804710,18391953,16382105,16109170,15489334,15142872,12743112,12477932,12458027,12297500 3760 NM_002239,AC061961,AC093633,AC107060,CH471058,AW949825,BC022495,U50964 NP_002230,AAX93197,EAX11461,AAH22495,AAB42176,P48549,Q53R59,ABM83289,ABM86498 Hs.591606 GDB:278325 GIRK1|KGA|KIR3.1 protein-coding 733316 KCNJ4 potassium inwardly-rectifying channel, subfamily J, member 4 Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. 1580863,1581471 8016146,8051145,18391953,16382105,16373386,16258766,15958527,15489334,15461802,12477932,12032359,11997254,11742811,11713246,11306688,11181181,10627592,10591208,10479680,10206975,8943291,8893032,8034048,7607694,15024025,14960569 1581471 3761 NM_004981,CH471095,Z97056,BC032562,BC039618,BC113506,BC113508,BM475496,CR456507,S72503,U07364,U24056,NM_152868 AAA66076,P48050,Q58F07,CAK54537,CAK54836,NP_690607,NP_004972,EAW60235,EAW60236,CAB09790,AAH32562,AAI13507,AAI13509,CAG30393,AAC60632,AAA19962 Hs.32505 GDB:374080 HIR|HIRK2|HRK1|IRK3|Kir2.3|MGC142066|MGC142068 protein-coding 1349904 KCNJ5 potassium inwardly-rectifying channel, subfamily J, member 5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It may associate with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. 1580863,1581701 8834003,18391953,18239147,17967416,16382105,16109170,15694835,15489334,15142872,12477932,12297500,11879649,11741896,9891030,10659995,9765280,9642257,9245502,9169438,9108307,8868049,8558261,8524415,8047164,7590741 1581701 3762 NM_000890,AP000920,CH471065,BC069386,BC069482,BC069499,BC069571,BC074838,BC074839,BC096834,D50134,L47208,U39195,X83582 NP_000881,EAW67726,EAW67727,AAH69386,AAH69482,AAH69499,AAH69571,AAH74838,AAH74839,AAH96834,BAA08814,AAB07269,AAB53093,CAA58565,P48544,Q4QRJ2 Hs.632109 GDB:547948 CIR|GIRK4|KATP1|KIR3.4 protein-coding 1313992 KCNJ6 potassium inwardly-rectifying channel, subfamily J, member 6 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. 1580863 7550338,7796919,16780588,18391953,18303085,17135278,16382105,16109170,15772902,15489334,15142872,15068243,14724209,12743112,12477932,12458027,12297500,12034888,10956667,10830953,10659995,10619846,10562331,9503011,9108307,9037601,9023358,8929423,7926018,7729621,7592809 3763 NM_002240,AP001407,AP001408,AP001411,AP001416,AP001424,AP001427,AP001430,AP001433,AP001436,CH471079,S78685,AJ001894,BC101547,BF110130,D87327,U24660 NP_002231,EAX09692,AAB34738,AAI01548,BAA13331,AAC50258,P48051 Hs.658533 GDB:547949 BIR1|GIRK2|KATP2|KCNJ7|KIR3.2|MGC126596|hiGIRK2 protein-coding 731904 KCNJ8 potassium inwardly-rectifying channel, subfamily J, member 8 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. 1581700,1580863,1581599,1581698,1581699,1581697,1598645,1598652,729109 7890693,18391953,17081983,16964409,16820413,16382105,15821440,15489334,12964027,12934053,12738227,12477932,12356945,12217870,11984590,11956191,11825905,11160857,11136227,11007308,10559219,10516647,9573340,9434770,8595887 1581700,1581599,1581698,1581699,1581697,1598645,1598652,729109 3764 NM_004982,AC010185,CH471094,D50315,AK291821,AL546327,BC000544,BQ009215,CR593376,CR605484,D50312 NP_004973,EAW96450,EAW96451,BAA08852,BAF84510,AAH00544,BAA08851,Q15842,ABM82839,ABM86023 Hs.102308,Hs.619408 GDB:633096 KIR6.1|uKATP-1 protein-coding 1343442 KCNJ9 potassium inwardly-rectifying channel, subfamily J, member 9 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. 1580863 18391953,17727731,16710414,16382105,16109170,15911117,12297500,11350189,10956667,10913335,10659995,10341034,8575783 3765 NM_004983,AF193615,AL121987,CH471121,U52152 NP_004974,AAF89098,CAI15268,EAW52747,AAB07043,Q92806 Hs.66726 GDB:3750202 GIRK3|KIR3.3 protein-coding 731790 KCNK1 potassium channel, subfamily K, member 1 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. 1580863 8605869,16382106,15820677,15489334,14702039,12855359,12477932,11256078,11165377,11053038,9832487,9462864,8978667,8661042,16189514,9362344 3775 NM_002245,AL356357,CH471098,AK090902,BC018051,CR590911,U33632,U76996,U90065 NP_002236,CAI21792,CAI21793,CAI21794,EAW69989,EAW69990,AAH18051,AAB01688,AAB97878,AAB51147,O00180,Q5T5E7,Q5T5E8,ABM83309,ABM86521 Hs.208544 GDB:6045446 DPK|HOHO|K2p1.1|TWIK-1|TWIK1 protein-coding 732934 KCNK10 potassium channel, subfamily K, member 10 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is highly expressed in the kidney and pancreas. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. The protein is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Three transcript variants have been identified for this gene. 10880510,17689202,16382106,12477932,11897838,11256078,10747911 54207 NM_021161,NM_138317,NM_138318,AL049834,AL133279,CH471061,AF279890,AF385399,AF385400,AK290518,BC075021,BC075022 NP_066984,NP_612190,NP_612191,EAW81373,EAW81374,EAW81375,AAG15191,AAL95705,AAL95706,BAF83207,AAH75021,AAH75022,P57789,Q6B014 Hs.592299 GDB:11500539 K2p10.1|TREK-2|TREK2 potassium channel trek-2 protein-coding 68984 KCNK12 potassium channel, subfamily K, member 12 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. 67928,1580863 18209473,17081983,15489334,12477932,11263999,11256078,11060316 67928 56660 NM_022055,AC138655,CH471053,AF287302,BC047749 NP_071338,EAX00212,AAG32313,AAH47749,Q9HB15 Hs.591586 GDB:10796804 THIK-2|THIK2 protein-coding 68985 KCNK13 potassium channel, subfamily K, member 13 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming domains. The product of this gene is an open channel that can be stimulated by arachidonic acid. 67928,1580863 18209473,16683720,16382106,15489334,12477932,11256078,11060316 67928 56659 NM_022054,AL137128,AL355074,CH471061,AF287303,BC012779 NP_071337,EAW81417,AAG32314,AAH12779,Q9HB14,ABM84033,ABM87379 Hs.510191 GDB:10796805 K2p13.1|THIK-1|THIK1 protein-coding 1345243 KCNK15 potassium channel, subfamily K, member 15 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. 1580863 11749039,17081983,16382106,12477932,11780052,11680614,11431495,11409881 60598 NM_022358,AF294352,AL118522,CH471077,AF257081,AF294350,AF294351,AF336342,BC093874 NP_071753,AAK97093,CAC14068,EAW75900,AAG33127,AAK97091,AAK97092,AAK37518,AAH93874,Q52LL3,Q9H427 Hs.528664 GDB:10797005 K2p15.1|KCNK11|KCNK14|KIAA0237|KT3.3|TASK-5|TASK5|dJ781B1.1 protein-coding 1319410 KCNK16 potassium channel, subfamily K, member 16 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene is expressed exclusively in the pancreas and is activated at alkaline pH. 1580863 16382106,14574404,12724142,12477932,11263999,11256078 83795 NM_032115,AL136087,CH471081,AF358909,AY253145,AY253146,AY253147,BC111860 AAI11861,Q2M2N9,Q6X6Z3,Q6X6Z4,Q6X6Z5,Q96T55,NP_115491,CAI19537,EAX03982,EAX03983,EAX03984,EAX03985,AAK49532,AAP82866,AAP82867,AAP82868 Hs.287765 GDB:11500713 K2p16.1|MGC133123|TALK-1|TALK1 protein-coding 1349439 KCNK17 potassium channel, subfamily K, member 17 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This open channel, primarily expressed in the pancreas, is activated at alkaline pH. 1580863 11248242,16382106,15489334,15342556,14574404,12975309,12477932,11263999 89822 NM_031460,AL136087,CH471081,AF339912,AF358910,AY358853,BC025726,BP317866,CR613884,CR622971,CR626629 NP_113648,CAI19536,EAX03981,AAK28551,AAK49533,AAQ89212,AAH25726,Q96T54,ABM82638,ABM85815 Hs.162282 GDB:11503315 K2p17.1|TALK-2|TALK2|TASK-4|TASK4 protein-coding 1346775 KCNK18 potassium channel, subfamily K, member 18 1580863 16382106,15761153,15123670,14981085,12754259 338567 NM_181840,AL731557,AB087138 NP_862823,CAI14827,BAC78527,Q7Z418,AAI48338,AAI52980 Hs.449650 K2p18.1|TRESK|TRESK-2|TRESK2|TRIK protein-coding 1354126 KCNK2 potassium channel, subfamily K, member 2 This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. 1580863 18288090,17375039,17035301,16382106,16344560,16250016,16006563,15883010,15685212,15203218,14522822,12878157,12477932,12368289,11319556,11319549,11256078,10784345,10321245,9721223,9003761 3776 NM_001017425,NM_014217,AC092804,AC099675,AL583830,CH471100,AF004711,AF129399,AF171068,AK123409,AK291483,AU280191,AY552980,AY552981,BC069462,BC101693,BC101695,CD625291,CD625297,CD625301,DA475072,NM_001017424,DR001358,EF165334,EF165335 NP_001017424,NP_001017425,NP_055032,EAW93347,EAW93348,EAW93349,AAD01203,AAD47569,AAF89743,BAC85609,BAF84172,AAT49015,AAT49016,AAH69462,AAI01694,AAI01696,ABM47413,ABM47414,O95069,Q5DP47,Q6ZW95 Hs.497745 GDB:9835800 K2p2.1|MGC126742|MGC126744|TPKC1|TREK|TREK-1|TREK1|hTREK-1c|hTREK-1e protein-coding 1345497 KCNK3 potassium channel, subfamily K, member 3 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The gene product is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. 1580863 9312005,17945357,16574908,16382106,15695101,15197476,15099524,12837685,12437930,12198146,12003807,11907168,11886861,11803450,11680614,11256078,10748056,10575216,10321245,9721223,15099514 3777 NM_002246,AC015977,CH471053,AF006823,AF065163 NP_002237,AAY24312,EAX00678,EAX00679,AAC51777,AAG29340,O14649,Q53SU2 Hs.645288 GDB:9773281 K2p3.1|OAT1|TASK|TASK-1|TBAK1 protein-coding 733987 KCNK4 potassium channel, subfamily K, member 4 Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The encoded protein homodimerizes and functions as an outwardly rectifying channel. It is expressed primarily in neural tissues and is stimulated by membrane stretch and polyunsaturated fatty acids. 1580863 11042359,10767409,11256614,16382106,16381901,16344560,15489336,14996553,14759258,12477932,12191490,11256078,11230166,11172753,11076863 50801 AF248242,AF259500,NM_033310,AP001453,CH471076,BC033577,BC067791,BC110327,CR603880,DB273064 AAG31731,AAK49389,NP_201567,EAW74242,EAW74243,AAH33577,AAI10328,Q2YDA1,Q8N4V5,Q9NYG8 Hs.647233 GDB:10796244 K2p4.1|TRAAK|TRAAK1 potassium inwardly-rectifying channel, subfamily k, member 4 protein-coding 1345390 KCNK5 potassium channel, subfamily K, member 5 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. 1580863 14702039,12851074,12634929,12477932,11256078,10839924,8889548,9812978,16382106,15489334,15197476 8645 NM_003740,AL451185,CH471081,AF084830,AK001897,BC060793,BC069573,BU608155 NP_003731,CAH70466,EAX03979,EAX03980,AAC79458,AAH60793,AAH69573,O95279,Q5VV76 Hs.444448 GDB:9956112 FLJ11035|K2p5.1|TASK-2|TASK2 protein-coding 735903 KCNK6 potassium channel, subfamily K, member 6 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. 1580863 10075682,16382106,15489334,14702039,14689445,12477932,11256078,10887187,10393428,10359073,10206991,9373149,8125298,1088718 9424 NM_004823,A94721,AC026806,AJ297404,AJ297405,CH471126,AF117708,AF134149,AF281302,AF281303,AK022344,AK222545,BC004367,CR614493 NP_004814,CAB70443,CAC15489,EAW56776,AAD24000,AAD22980,AAG10506,AAG10507,BAD96265,AAH04367,Q53HN5,Q9Y257,ABM84348,ABM87739 Hs.240395 GDB:9956665 FLJ12282|K2p6.1|KCNK8|TOSS|TWIK-2|TWIK2 potassium channel, subfamily k, member 6 (twik-2) protein-coding 1604643 KCNK7 potassium channel, subfamily K, member 7 This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. 10206991,16382106,12477932,11256078,11165377 10089 NM_005714,NM_033455,NM_033347,NM_033348,AP001362,CH471076,AF110522,AF110523,AF110524,BC103809,BC103810,BC103811 NP_005705,NP_258416,NP_203133,NP_203134,EAW74411,EAW74412,EAW74413,EAW74414,EAW74415,EAW74416,AAD29578,AAD29579,AAD29580,AAI03810,AAI03811,AAI03812,Q3MI97,Q3SYI1,Q3SYI2,Q9Y2U2 Hs.175218 GDB:9954986 K2p7.1|MGC118782|MGC118784|TWIK3 protein-coding 734260 KCNK9 potassium channel, subfamily K, member 9 This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This open channel is highly expressed in the cerebellum. It is inhibited by extracellular acidification and arachidonic acid, and strongly inhibited by phorbol 12-myristate 13-acetate. 729095,1580863 11042359,17704508,17547699,17013562,16382106,15601307,15489334,15284350,15197476,12782791,12676587,12477932,12433946,11886861,11431495,11256078,10747866,10734076 729095 51305 NM_016601,AC007869,CH471060,AF212829,AF248241,AF257080,AF279809,AY190605,BC075079,BC075080,BC112063,BC112065 NP_057685,EAW92196,EAW92197,EAW92198,AAF63708,AAG31730,AAG33126,AAF85982,AAO38739,AAH75079,AAH75080,AAI12064,AAI12066,Q9NPC2 Hs.493037 GDB:10796363 K2p9.1|KT3.2|MGC138268|MGC138270|TASK-3|TASK3 potassium channel, subfamily k, member 9 (task-3) protein-coding 731981 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 7987297,10692449,7993625,18345016,18316727,18227273,18162557,18084004,17989352,17901123,17591990,17591987,17586600,17521822,17483867,17468961,17166942,17150299,17146446,16951373,16895996,16790810,16396928,16382103,16100257,16042390,15937479,15849354,15703204,15528406,15489334,15280542,15194822,15164054,14715246,14702039,14631046,14584897,14523450,14522958,12566537,12477932,12438308,12434576,12391293,12223479,12161564,12016222,12009018,11986367,11880513,11880485,11832330,11604135,10489376,10097176,9829973,9391153,8962157,8821792,8612769,8006036,7877450,7687074,7573516,10758170 3778 AL731575,CH471083,AB113382,AB113575,AB209488,AF025999,AF118141,AK024857,AK055362,AK124355,AK128392,AY040849,AY445624,BC009695,BC024965,BC062659,BX648925,U02632,U09384,U11058,U11717,U13913,U23767,NM_002247,AC011439,AC021032,AC067745,AL157833,AL607069,AL627447,AL731556,AL731560,NM_001014797 CAI40875,CAI40877,CAI40878,CAI40879,CAI40880,CAI40881,EAW54597,EAW54598,EAW54599,EAW54600,EAW54601,EAW54602,BAD06365,BAD06397,BAD92725,AAB88802,AAD31173,AAK91504,AAS01054,AAH62659,AAA50173,AAA50216,AAB65837,AAC50353,AAA85104,AAA92290,Q12791,Q59FH2,Q5JQ19,Q5JQ20,Q5JQ21,Q5JQ23,CAI40874,NP_001014797,NP_002238,CAI39728,CAI39729,CAI39730,CAI39731,CAI39732,CAI39733,CAI39734,CAI39735,CAI39736,CAI39737,CAI39738,CAI16162,CAI16163,CAI16164,CAI16165,CAI16166,CAI16168,CAI16169,CAI16170,CAI16171,CAI16172,CAI40868,CAI40869,CAI40870,CAI40871,CAI40872,CAI40873,Q5SQR2,Q5SQR4,Q5SQR5,Q5SQR6,Q5SQR7,Q5SQR8,Q5SQS0,Q5SQS1,Q6JJ72,Q9UCX0 Hs.144795 GDB:386031 BKTM|DKFZp686K1437|KCa1.1|MGC71881|MaxiK|SAKCA|SLO|SLO-ALPHA|SLO1|mSLO1 protein-coding 733456 KCNMB1 potassium large conductance calcium-activated channel, subfamily M, beta member 1 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. 69871,1581719,1581718,1580863,1298970 8612769,8799178,17700361,17496725,16446507,16293791,16189514,16155733,15671602,15528406,15489334,15057310,14522958,12962281,12893878,12670831,12477932,12434576,12223479,12136044,12011654,11994272,11790768,10792058,10489376,9888999,8764643,8006036 69871,1581719,1581718,1298970 3779 AAB39373 NM_004137,AC134820,AF035046,CH471062,U42601,U42603,U61537,AF026002,AY044441,AY515264,BC025707,U25138,U38907,U42600,U61536 NP_004128,EAW61474,EAW61475,EAW61476,AAB16825,AAB16826,AAB61397,AAB88805,AAK95827,AAS20193,AAH25707,AAB02394,AAA81327,AAB16827,AAB61396,AAB39373,Q16558,Q53YR0 Hs.484099 GDB:6099615 K(VCA)beta|SLO-BETA|hslo-beta protein-coding 1343870 KCNMB2 potassium large conductance calcium-activated channel, subfamily M, beta member 2 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Two variants encoding the same protein have been found for this gene. 1580863 10692449,10097176,17521822,17460083,16446507,15489334,14522958,12566540,12477932,12136044,11517232,10792058,10766764,10377337,10758170 10242 NM_181361,NM_005832,AC024220,AC092929,AC117457,AC139661,CH471052,AF099137,AF209747,BC017825 NP_852006,NP_005823,EAW78428,EAW78429,AAD23380,AAF36562,AAH17825,Q9Y691,ABM82937,ABM86126 Hs.478368 GDB:9955803 MGC22431 protein-coding 1323526 KCNMB3 potassium large conductance calcium-activated channel, subfamily M beta member 3 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. At least four transcript variants encoding four different isoforms have been found for this gene. 1580863 10692449,10766764,10792058,16958040,14612589,12740608,12477932,12136044,11382809,11382808,10864947,10828459,10585773,10758170 27094 NM_171830,NM_014407,NM_171828,AC007823,AC076966,AF204159,AF204160,AF204161,AF204162,CH471052,AF139471,AF160968,AF170916,NM_171829,AF214561,BC082272,BC113851 NP_741980,NP_741981,NP_055222,NP_741979,AAF97031,AAF97032,AAF97033,AAF97034,EAW78417,EAW78418,EAW78419,EAW78420,EAW78421,AAD54771,AAF67811,AAF89698,AAF36598,Q9NPA1,AAI52861 Hs.591285 GDB:9787145 KCNMB2|KCNMBL protein-coding 1347636 KCNMB3L potassium large conductance calcium-activated channel, subfamily M, beta member 3-like 1580863 10585773 27093 NG_002679,AP000365,AP000547 CAK54538,CAK54837 GDB:9787146 KCNMB2L|KCNMB3L1|KCNMBLP pseudo 1343155 KCNMB4 potassium large conductance calcium-activated channel, subfamily M, beta member 4 MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. 10692449,17913586,15489334,12477932,12223479,12136044,11790768,10828459,10804197,10792058,10758170 27345 NM_014505,A94697,AC025569,CH471054,AF160967,AF207992,AF215891,BC042446,BC050621,BM805224,BU556960,CR613566,CR614941 NP_055320,CAB70439,EAW97251,AAF69805,AAF28333,AAF75596,AAH42446,AAH50621,Q86W47 Hs.525529 GDB:10796034 protein-coding 731634 KCNN1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. 69872,1580863 8781233,16382103,15489334,12598727,12477932,11844726,11258935,11146124,10683185,10516439,10758170 69872 3780 NM_002248,AC005602,AC020904,AF131948,CH471106,AB198191,BC075037,BE504989,U69883 NP_002239,AAD37507,EAW84646,EAW84647,BAD86831,AAH75037,AAB09562,Q92952 Hs.158173 GDB:9835924 KCa2.1|SK1|SKCA1|hSK1 protein-coding 734125 KCNN2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10991935,17452806,17110593,16396931,16382103,15362045,14702039,13679367,12778407,12477932,11395478,11323678,11146124,10713270,10758170 3781 BC015371,BC040722,BC117454,BC117456,NM_021614,NM_170775,AC025761,AC109482,CH471086,AF239613,AF397175,AK090521,AK289948,AY258141 AAH15371,AAI17455,AAI17457,Q0VFZ4,Q6PJI0,Q6X2Y2,Q9H2S1,NP_067627,NP_740721,EAW48975,EAW48976,AAG16728,AAK84039,BAF82637,AAP45946 Hs.98280 GDB:9835925 KCa2.2|SK2|SKCA2|hSK2 protein-coding 733381 KCNN3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. This gene is a member of the KCNN family of potassium channel genes. Two transcript variants encoding two different isoforms have been found for this gene. One of the variants lacks the CAG repeat regions. 1358338,1358671 8781233,9491810,18227067,17101631,17061167,16393881,16382103,16162291,16086287,15389773,14638680,14559917,12960745,12898569,12808432,12778407,12497613,12477932,12457234,12434576,12007452,11807415,11803450,11532529,11526470,11501944,11395478,11369031,11311923,11146124,11121173,10732800,10395215,8896557,10758170 1358338,1358671 3782 CR595038,Y08263,NM_170782,AF336797,AL390204,AL606500,AL954342,AY138901,CH471121,AA284005,AF031815,AF438203,AJ251016,AY049734,AY138900,AY258142,BC042147,NM_002249 AAH42147,CAA69590,Q5VT74,Q6JXY2,Q86VF8,Q86VF9,Q8WXG7,Q96DJ3,Q99415,Q9UGI6,NP_002240,NP_740752,AAK15345,CAH72737,CAH72738,CAH72739,AAN46637,EAW53179,EAW53180,EAW53181,EAW53182,AAC26099,AAL40801,CAB61331,AAL10706,AAN46636,AAP45947 Hs.490765 GDB:9835926 KCa2.3|SK3|SKCA3|hSK3 protein-coding 732698 KCNN4 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. 729207,1580863 9380751,9407042,18227067,18184876,17762175,17585114,17474152,17470662,17353352,17310992,17157250,17151145,16766578,16382103,16251351,15965951,15817638,15489334,15452196,15339840,15039018,14754884,14724753,12773623,12612194,12609997,12493744,12477932,12434576,12421833,11425865,10961988,10026195,9693050,9326665,10758170 729207 3783 NM_002250,A95651,AC115522,AF305731,AF305735,CH471126,AF000972,AF022150,AF022797,AF033021,AF053403,AF395661,BC015337,BT007426,CR598085,CR617778,CR626849 NP_002241,CAB70490,AAG26917,EAW57229,EAW57230,AAB82739,AAC23541,AAC51913,AAC36804,AAC35281,AAK81862,AAH15337,AAP36094,O15554,Q53XR4,ABM82419,ABM85610 Hs.10082 GDB:9835928 IK1|IKCA1|KCA4|KCa3.1|SK4|hIKCa1|hKCa4|hSK4 protein-coding 1353354 KCNQ1 potassium voltage-gated channel, KQT-like subfamily, member 1 This gene encodes a protein for a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome, Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a large number of contiguous genes that are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. Two alternative transcripts encoding distinct isoforms have been described. 1580507,1580508,1580509,1580863,1580502 17443681,17384445,17310097,17292394,17227916,17210839,17161064,17130521,17016049,17010804,16987820,16880338,16823764,16818214,16723781,16631607,16610241,16563243,16556866,16556865,16487842,16487223,16414944,16382104,16308347,16253915,16246960,16155735,16132053,16129795,15904893,15851119,15840476,15746444,15707997,8900283,8528244,9020846,18426444,18308161,18279388,18192214,18093912,18079560,17999538,17997361,17984373,17980676,17932138,17916649,17905336,17853647,17698596,17676362,17646758,17626898,17596298,17544529,17534376,17482572,17470695,17467630,15649981,15534720,15511625,15459184,15389592,15367556,15340049,15242738,15234419,15226366,15176425,15159330,15051636,15028050,14998624,14761891,14760488,14756674,14743216,14731347,14678125,14661677,14576198,14510661,12849668,12820704,12690509,12670483,12612194,12524525,12522251,12511562,12482884,12477932,12442276,12402336,12080180,12051962,11997281,11877438,11799244,11761407,11743032,11289718,11136691,11104781,11101505,11076863,10973849,10970817,10728423,10713961,10704188,10654932,10646604,10482963,10409658,10367071,10220146,10220144,10090886,10024302,9927399,9799083,9781056,9702906,9693036,9641694,9570196,9482580,9386136,9323054,9312006,9305853,9302275,9272155,9164812,9108097,9024139,8872472,8818942 1580507,1580508,1580509,1580502 3784 NM_000218,NM_181798,AB015163,AC013791,AC021424,AC124055,AC124057,AJ006343,AJ006345,AP006463,CH471158,AF000571,AF003743,AF051426,AI473902,AJ006344,AK129678,AK290618,AY114213,BC017074,BC113545,CR608266,EF010934,EF010935,U86146,U89364 NP_000209,NP_861463,BAA34738,BAA34739,CAB44649,CAB44650,EAX02517,EAX02518,EAX02519,EAX02520,EAX02521,AAC51776,AAC00066,AAC05705,BAF83307,AAM94040,AAH17074,AAI13546,ABJ98773,ABJ98774,AAB53974,AAC51781,A0FIK7,A0FIK8,O00550,P51787,Q14D14,Q96AI9,AAI11848 Hs.95162 GDB:741244 ATFB1|FLJ26167|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS protein-coding 1349570 KCNQ1DN KCNQ1 downstream neighbor 12477932,11063728,11056398 55539 Q9H478 NM_018722,AC013791,CH471158,AB039920,AJ404617,BC098159,BC098256,BC098319,BC098344 NP_061192,EAX02523,CAB95125,AAH98159,AAH98256,AAH98319,AAH98344,Q9H478 Hs.127821 BWRT|HSA404617 protein-coding 1349407 KCNQ1OT1 KCNQ1 overlapping transcript 1 (non-protein coding) Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains a promoter that drives expression of the KCNQ1OT1 transcript exclusively from the paternal allele. The KCNQ1OT1 transcript is thought to be non-coding, and regulates bidirectional gene silencing and the spreading of DNA methylation on the paternally-inherited chromosome. This transcript is thought to be unspliced and extend over more than 60 kb, but its exact nature has not been determined. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and also occurs in some forms of cancer. 18079696,16965397,16950814,16575194,15888726,15851119,15340049,15233993,15007390,14702039,14627666,12772698,12439823,12136243,11813134,10393948,10369866,10220444,8889549,7566098 10984 NR_002728,AC021424,AC124055,AA155694,AF086011,AK123073 Hs.647285,Hs.655148 GDB:9958685 FLJ41078|KCNQ10T1|KvDMR1|KvLQT1-AS|LIT1 miscrna 736657 KCNQ2 potassium voltage-gated channel, KQT-like subfamily, member 2 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. 1580863 10713399,10684873,10479678,10323247,9872318,9836639,9827540,12890507,12847176,12832524,14534157,12754513,12975309,12742592,12640002,12524525,12477932,12458027,12395102,12223552,12032157,11780052,11726784,11572947,11175290,11160379,11034315,10953053,10908292,10788442,10781098,10713961,9677360,9425895,18246739,18089837,18006581,17993630,17872363,17724161,17675531,17475800,17382933,16990515,16721610,16691402,16464983,16382104,16319223,16260777,16235065,15596769,15489334,15483133,15304482,15249611,15178210,15030501,14985406,14759258,9430594,9039501,16189514 3785 AF033348,AF074247,AF110020,AY358189,BC000699,BC020384,BC127262,BT007043,CR621726,D82346,Y15065,NM_172106,NM_172107,NM_172108,NM_004518,NM_172109,AL121829,AL353658,CH471077 EAW75278,EAW75279,EAW75280,EAW75281,EAW75282,AAB97315,AAC25921,AAD16988,AAQ88556,AAH00699,AAP35692,BAA11557,CAA75348,O43526,Q5VYU0,Q5VYU1,Q5VYU3,Q5VYU4,Q5VYU5,Q5VYU6,Q6UXV8,NP_742104,NP_742105,NP_742106,NP_004509,NP_742107,CAI95738,CAI95739,CAI95740,CAI95741,CAI95742,CAI95744,CAI95745,CAI95746,CAH72955,CAH72956,CAH72958,CAH72959,CAH72960,CAH72961,CAH72962,EAW75271,EAW75272,EAW75273,EAW75274,EAW75275,EAW75276,EAW75277,AAI46295 Hs.161851,Hs.652468 GDB:9787229 BFNC|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2|KVEBN1 protein-coding 735595 KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3 The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). 1580863 9677360,9425900,18089837,16990515,16735477,16721610,16382104,16319223,16235065,15483133,15304482,14534157,12928862,12890507,12832524,12640002,12524525,12223552,12147327,12032157,11159685,11034315,10953053,10908292,10852552,10788442,10781098,10713961,10713399,10684873,10479678,10025409,9872318,9836639,8102508,1859177 3786 AC018540,AC123776,AC131042,AC136373,AF071478,AF071491,CH471060,CS327666,AB208890,AF033347,BC128576,NM_004519 NP_004510,AAC96101,EAW92141,EAW92142,CAL00146,BAD92127,AAB97314,AAI28577,O43525,Q59H69,AAI52756 Hs.374023 GDB:9787230 BFNC2|EBN2|KV7.3 protein-coding 736263 KCNQ4 potassium voltage-gated channel, KQT-like subfamily, member 4 The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. 1600303,1580863 11042367,10925378,10713961,10571947,10369879,10025409,18030493,17329207,17237198,17033161,16917933,16823764,16382104,15660259,15304482,12524525,12484650,12112653,11245603 1600303 9132 NM_004700,NM_172163,AC119677,AF105216,CH471059,AF105202,AK074957 NP_004691,NP_751895,AAD14681,EAX07196,EAX07197,AAD14680,P56696 Hs.473058 GDB:439046 DFNA2|KV7.4 potassium voltage-gated channel, subfamily q, member 4 protein-coding 1351630 KCNQ5 potassium voltage-gated channel, KQT-like subfamily, member 5 This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of only one has been determined. 1580863 10787416,17237198,16382104,15489334,15304482,14574404,12890507,12506198,12477932,12032157,11159685,10816588 56479 NM_019842,AJ272506,AL049845,AL360232,AL360236,AL365232,AL445569,AL513522,AL671823,CH471051,AF202977,AF249278,AF263835,BC050689,BC117359 NP_062816,CAC88112,CAH73176,CAH73177,CAI39828,CAO03582,CAH70463,CAH70464,EAW48782,EAW48783,AAF69797,AAF91335,AAF73446,AAH50689,AAI17360,Q9NR82 Hs.675919 GDB:10796860 Kv7.5 protein-coding 1316250 KCNRG potassium channel regulator KCNRG is a soluble protein with characteristics suggesting it forms heterotetramers with voltage-gated K(+) channels (see MIM 176260) and inhibits their function (Ivanov et al., 2003 [PubMed 12650944]).[supplied by OMIM] 1580863 16189514,16819283,16499869,15489334,15188451,14702039,12650944,12477932 283518 NM_199464,NM_173605,AL137060,CH471075,AF086244,AY129653,AY129654,AY169387,AY169388,AY190921,AY190922,BC020887,BC032343 NP_955751,NP_775876,CAM17621,CAM17622,EAX08849,EAX08850,AAN06090,AAN06091,AAO11777,AAO11778,AAO27464,AAO27465,AAH20887,AAH32343,Q0P6D0,Q8N5I3,ABM82527,ABM85722 Hs.660161 DLTET protein-coding 735720 KCNS1 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. 737625,1580863 10484328,16382104,15489334,12477932,11780052,11549316,9305895 737625 3787 NM_002251,CH471077,Z93016,AF043473,AK289735,BC075033,BC075034,BC132957,BC132959 NP_002242,EAW75879,EAW75880,CAB07507,AAC13165,BAF82424,AAH75033,AAH75034,AAI32958,AAI32960,Q96KK3 Hs.117780 GDB:9835878 KV9.1 protein-coding 1342899 KCNS2 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 737625,1580863 16382104,15489334,12477932,10574461,9305895,8640222 737625 3788 NM_020697,AP003355,CH471060,AB032970,AK293096,BC027932,BC034778 NP_065748,EAW91780,BAA86458,BAF85785,AAH27932,AAH34778,Q9ULS6 Hs.388045 GDB:9835879 KV9.2 protein-coding 731286 KCNS3 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. 1580863 10484328,16382104,15827117,15714333,15489334,12477932,9704029,9373149,9362476,8125298 3790 BC004148,BC004987,BC015947,CR615536,NM_002252,AC093731,CH471053,AF043472,AK075088,AK225833 AAH04148,AAH04987,AAH15947,Q4ZFY1,Q9BQ31,ABM82038,ABM82041,ABM85218,NP_002243,EAX00861,EAX00862,AAC13164 Hs.414489 GDB:9835881 KV9.3|MGC9481 protein-coding 734382 KCNT1 potassium channel, subfamily T, member 1 16382103,15164053,14702039,10718198 57582 NM_020822,AL158822,CH471090,AB037843,AK124588,AK127272 NP_065873,CAI39240,EAW88177,EAW88178,EAW88179,EAW88180,EAW88181,EAW88182,BAA92660,Q5JUK3 Hs.104950 GDB:11509022 KCa4.1|SLACK|bA100C15.2 potassium channel subunit (slack) protein-coding 1351112 KCNT2 potassium channel, subfamily T, member 2 16382103,14684870,12477932 343450 Q3SY59,Q3SY61,Q5VTN1,Q6UVM3,Q6ZMT3,Q6ZS12 NM_198503,AL138931,AL139137,AL358853,AL591604,CH471067,AK127807,AK131498,AY359444,BC103947,BC103948,BC103949,BC103950,BX647852 NP_940905,CAI15623,CAI15624,CAI16091,CAI16092,CAH71957,CAH71958,CAH72932,CAH72933,EAW91255,EAW91256,BAC87144,BAD18642,AAR06170,AAI03948,AAI03949,AAI03950,AAI03951,CAI46099,Q3SY59,Q3SY61,Q5VTN1,Q6UVM3,Q6ZMT3,Q6ZS12 Hs.657046 GDB:11509024 KCa4.2|MGC119610|MGC119611|MGC119612|MGC119613|RP11-58O13.1|SLICK|SLO2.1 protein-coding 1348220 KCNU1 potassium channel, subfamily U, member 1 16382103,16344560,12477932 157855 NM_001031836,AC090453,AC124076,AC138136,BC028701,DB089392,DC401954 NP_001027006 Hs.13861 GDB:11509026 KCNMC1|KCa5.1|Kcnma3|Slo3 protein-coding 731335 KCNV1 potassium channel, subfamily V, member 1 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. 1580863 8670833,16382104,14697513,12477932,12383276,9079713 27012 NM_014379,AB032013,AB105051,AC027451,CH471060,AF167082,BC028739 NP_055194,BAA92316,BAC85099,EAW91938,AAD48031,AAH28739,Q6PIU1,Q76FP2,ABM83339,ABM86553 Hs.13285 GDB:11509014 HNKA|KCNB3|KV2.3|KV8.1 protein-coding 1319524 KCNV2 potassium channel, subfamily V, member 2 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. 1580863 18235024,17896311,16909397,16382104,15489334,15164053,12477932,12107411,12060745 169522 NM_133497,AL354723,CH471071,AF348983,BC101352,BC101353,BQ638061 NP_598004,EAW58803,AAL83910,AAI01353,AAI01354,Q8TDN2 Hs.624689,Hs.660831 KV11.1|Kv8.2|MGC120515 protein-coding 1344387 KCS Kenny-Caffey syndrome 9806825 3771 GDB:9848740 1352985 KCTD1 potassium channel tetramerisation domain containing 1 15561718,15489334,15345747,12477932 284252 NM_198991,AC007996,AC090206,CH471088,AF542549,AK289870,BC042371,BC063652,CR604274 NP_945342,EAX01222,EAX01223,EAX01225,AAQ09532,BAF82559,AAH63652,Q719H9 Hs.526630 GDB:11503405 C18orf5 protein-coding 1347079 KCTD10 potassium channel tetramerisation domain containing 10 737633 15982757,15489334,14702039,12477932,9373149,8125298 737633 83892 NM_031954,AC007570,CH471054,AB209358,AF113208,AK027543,AK056912,AK092170,AK123733,AK222548,AY205299,AY597809,BC040062,CR596034,CR597653,CR601770 NP_114160,EAW97860,EAW97861,EAW97862,EAW97863,EAW97864,BAD92595,AAG39279,BAB55188,BAD96268,AAO47716,AAT09002,AAH40062,Q9H3F6 Hs.524731,Hs.708437 FLJ41739|MSTP028|ULRO61 protein-coding 1316133 KCTD11 potassium channel tetramerisation domain containing 11 15489334,15249678,14702039,12477932,12186855 147040 NM_001002914,AC026954,CH471108,AK056227,AY646650,BC019929,BC063604,BC103744,BC110598 NP_001002914,EAW90208,AAT75307,AAH19929,AAI10599,Q693B1 Hs.592112 C17orf36|MGC129844|REN|REN/KCTD11 protein-coding 1319755 KCTD12 potassium channel tetramerisation domain containing 12 737633,1580863 17353931,18347171,18210030,16344560,15489334,15357420,15345747,14702039,12477932,9110174,8889548,8619474,14743216 737633 115207 NM_138444,AC000403,CH471093,AF052169,AF359381,AK057635,AK128363,BC013764,BU742274,DB153209 NP_612453,EAW80558,AAQ15187,AAH13764,Q96CX2 Hs.644125 C13orf2|FLJ33073|KIAA1778|PFET1|PFETIN protein-coding 1345683 KCTD13 potassium channel tetramerisation domain containing 13 1302826,737633,1580863 12136098,11593007,15726626,16239304,16189514,15498874,15489334,14702039,12477932 1302826,737633 253980 NM_178863,AC120114,AJ328335,CH471238,AF289573,AF401315,AK097407,AK289630,AY027918,BC036228,CR625548 EAW79969,NP_849194,EAW79970,AAL55757,AAL14962,BAF82319,AAK27301,AAH36228,Q8WZ19,ABM82481,ABM85668 Hs.534590 FKSG86|PDIP1|POLDIP1 protein-coding 1315042 KCTD14 potassium channel tetramerisation domain containing 14 737633,1580863 15489334,12477932 737633 65987 NM_023930,AP003032,CH471076,BC001062,BC001929,BU631809,CB993622,CR613975 NP_076419,EAW75043,EAW75044,AAH01062,AAH01929,Q9BQ13,ABM83668,ABM86914 Hs.709780 MGC2376 protein-coding 1313572 KCTD15 potassium channel tetramerisation domain containing 15 737633,1580863 15489334,15345747,14702039,12477932,9373149,8125298 737633 79047 NM_024076,AC005615,AC008556,AK025590,AK027901,AK096843,AK225793,AK291465,BC001185,BC009335 NP_076981,BAB55443,BAF84154,AAH01185,AAH09335,Q96SI1 Hs.221873 MGC25497|MGC2628 protein-coding 1320838 KCTD16 potassium channel tetramerisation domain containing 16 12477932,10718198,15489334 57528 NM_020768,AC008383,AC008652,AC008716,AC010584,AC109441,AB037738,AK292477,BC111962,BC113435,CR749266 NP_065819,BAA92555,BAF85166,AAI11963,AAI13436,CAH18122,Q68DU8 Hs.661870,Hs.693927 DKFZp781A1155|KIAA1317|MGC138167 protein-coding 1353287 KCTD17 potassium channel tetramerisation domain containing 17 737633 16189514,16344560,15489334,15342556,14702039,12477932,10591208 737633 79734 AL022314,CH471095,AA761637,AK022304,AK308720,BC009961,BC025403,BC031038,BP362002,CR596515,DA258908,NM_024681 NP_078957,EAW60136,EAW60137,EAW60138,EAW60139,EAW60140,BAB14007,AAH25403,AAH31038,Q8N5Z5 Hs.517597 FLJ12242|FLJ98761 protein-coding 1346294 KCTD18 potassium channel tetramerisation domain containing 18 12477932,15815621,15489334,14702039 130535 NM_152387,AC012459,CH471063,AK055884,AK095137,AK290867,BC045189,BC059366,BC067755,BU181789,CB960352,CR596892 NP_689600,AAY24308,AAY24309,EAW70203,EAW70204,EAW70205,EAW70206,BAB71035,BAC04492,BAF83556,AAH45189,AAH67755,Q6PI47 Hs.653234 6530404F10Rik|FLJ31322|FLJ37818 protein-coding 1349783 KCTD19 potassium channel tetramerisation domain containing 19 14702039,12477932 146212 NM_001100915,AC009061,AC040160,AK097481,BC070103,BC094790,BC117335 NP_001094385,BAC05072,AAI17336,Q17RG1 Hs.299127 FLJ40162 protein-coding 1348745 KCTD2 potassium channel tetramerisation domain containing 2 1580863 12620391,12477932,9110174,8724849,8619474 23510 NM_015353,AC087651,AC111186,CH471099,AF055014,BC009633,BC033329,BC047910,BC072404,BC080561,BM906741,D79998 NP_056168,EAW89230,AAH33329,BAA11493,Q14681,Q8IYY2 Hs.514468 KIAA0176 protein-coding 1320472 KCTD20 potassium channel tetramerisation domain containing 20 15489334,14676191,14574404,12477932 222658 AL136135,CH471081,AL049282,AL832381,AY305862,BC023525,BC035879,NM_173562 NP_775833,CAH72192,EAX03892,EAX03893,CAH10583,AAP74385,AAH23525,Q7Z5Y7 Hs.188757 C6orf69|MGC14254|dJ108K11.3 chromosome 6 open reading frame 69 protein-coding 1603870 KCTD21 potassium channel tetramerisation domain containing 21 15489334,14702039,12477932 283219 NM_001029859,AP002985,CH471076,AK095233,BC036058,CR619406 NP_001025030,EAW75053,EAW75054,AAH36058,Q4G0X4 Hs.528439 protein-coding 1321690 KCTD3 potassium channel tetramerisation domain containing 3 15231747,16710414,15489334,14702039,12477932,10508479 51133 NM_016121,AC092799,AL365315,CH471100,AK024547,AK055925,AL833887,AL834389,BC013868,BC037896,BC094879,BC117188,BC126173,CR614111,CR618107 NP_057205,CAD20310,CAH71926,EAW93344,EAW93345,CAD38743,CAD39051,AAH13868,AAH37896,AAH94879,AAI17189,AAI26174,Q9Y597 Hs.335139 MGC43935|NY-REN-45 protein-coding 1353413 KCTD4 potassium channel tetramerisation domain containing 4 1580863 16344560,16189514,15489334,12477932 386618 NM_198404,AL138693,CH471075,AK290675,BC018063,BQ575935,DA683655,DB557284 NP_940686,CAH72460,EAX08730,BAF83364,AAH18063,Q5W0P9,Q8WVF5,ABM86213,ABW03658 Hs.23406,Hs.693242 bA321C24.3 protein-coding 1312748 KCTD5 potassium channel tetramerisation domain containing 5 737633,1580863 17353931,17239418,16501559,15489334,14702039,12477932 737633 54442 NM_018992,AC092117,CH471112,AK000047,BC007314 NP_061865,EAW85488,EAW85489,EAW85490,EAW85491,BAA90906,AAH07314,Q9NXV2 Hs.61960 FLJ20040 protein-coding 1317853 KCTD6 potassium channel tetramerisation domain containing 6 737633 16303743,15489334,14702039,12477932 737633 200845 NM_153331,AC116036,CH471055,CQ783758,AK027572,AK074934,AK075297,BC022893,CR613146 NP_699162,EAW65374,CAF86847,BAC11301,BAC11531,AAH22893,Q8NC69 Hs.13982 MGC27385 protein-coding 1314738 KCTD7 potassium channel tetramerisation domain containing 7 The KCTD gene family, including KCTD7, encode predicted proteins that contain N-terminal domain that is homologous to the T1 domain in voltage-gated potassium channels (see KCNA1; MIM 176260). KCTD7 displays a primary sequence and hydropathy profile indicating intracytoplasmic localization. EST database analysis showed that KCTD7 is expressed in human and mouse brain (Van Bogaert et al., 2007 [PubMed 17455289]).[supplied by OMIM] 737633,1580863 17455289,15489334,14702039,12690205,12477932 737633 154881 NM_153033,AC006001,CH236961,CH471140,AK055201,AK056631,BC042482 NP_694578,EAL23735,EAX07918,EAX07919,EAX07920,BAB71236,AAH42482,Q96MP8 Hs.546627 EPM3|FLJ32069 protein-coding 1323784 KCTD8 potassium channel tetramerisation domain containing 8 14702039,12477932 386617 NM_198353,AC093861,AC131951,AK123347,BC132743,BC136793 NP_938167,BAC85588,AAI32744,AAI36794,Q6ZWB6 Hs.479644 protein-coding 1323768 KCTD9 potassium channel tetramerisation domain containing 9 737633 15489334,14702039,12477932,11483580 737633 54793 NM_017634,AC103779,CH471080,AF075015,AF130091,AK000045,AK025995,AL117436,BC021216,BC068518,BG249272,BQ022851,BU149129,CR621533 NP_060104,EAW63587,EAW63588,EAW63589,EAW63590,AAG35517,BAA90904,AAH21216,AAH68518,Q5JSM7,Q7L273,Q9H385 Hs.72071,Hs.188763 FLJ20038 protein-coding 1625839 KCTD9L potassium channel tetramerisation domain containing 9-like 643535 AL391071 CAI41086 pseudo 1312273 KDELC1 KDEL (Lys-Asp-Glu-Leu) containing 1 This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. 12477932,11167020,9373149,8125298,16344560,15635705,15489334,15057823,12975309 79070 AL157769,CH471085,AK074974,AK222567,AK225103,AY358959,BC001297,BC051860,CR605114,CR607417,CR608890,CR609732,NM_024089,CR625522,DA885954,DB204842 NP_076994,CAI14525,EAX09067,EAX09068,EAX09069,BAD96287,AAQ89318,AAH01297,Q6UW63,ABM82133,ABM85316 Hs.408629 EP58|KDEL1|MGC5302 protein-coding 1347684 KDELC2 KDEL (Lys-Asp-Glu-Leu) containing 2 737633 15489334,14702039,12975309,12477932 737633 143888 NM_153705,AP005718,CH471065,AF533708,AI628702,AK098206,AK123743,AK125519,AY358616,BC036526,BX648867,CR591240,DN999478 NP_714916,EAW67119,EAW67120,AAQ09021,BAC05260,BAC86191,AAQ88979,AAH36526,Q7Z4H8 Hs.83286 MGC33424 protein-coding 1315569 KDELR1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. 1580863 2172835,17353931,15308636,15489334,12975382,12821650,12761501,12477932,11703931,10708517,9405360,9118249,8392934,1310258,16189514 10945 NM_006801,AC011514,CH471177,AB097047,AK075185,BC008958,BC018778,CR592201,CR592306,CR592570,CR592609,CR594589,CR598227,CR598646,CR599333,CR599929,CR600499,CR600547,CR601065,CR601161,CR601178,CR602424,CR603648,CR604864,CR605541,CR605607,CR606699,CR607205,CR607377,CR608454,CR612670,CR614343,CR614727,CR616779,CR617980,CR619315,CR620582,CR621018,CR621761,CR623592,CR624245,CR625086,X55885 NP_006792,EAW52340,EAW52341,EAW52342,EAW52343,EAW52344,EAW52345,BAC77400,BAC11457,AAH08958,AAH18778,CAA39371,P24390,Q8NBW7,Q96H29,ABM82918,ABM86108 Hs.515515 GDB:135906 ERD2|ERD2.1|HDEL|PM23 protein-coding 1312161 KDELR2 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 1316805,17353931,1325562,16344560,15489334,14702039,12853948,12690205,12477932,12071860,11752456,9118249 11014 CR601220,CR605592,CR607926,CR615882,CR616528,CR617298,CR620529,CR625166,CR625485,DA713413,M88458,X63745,NM_001100603,NM_006854,AC072052,CH236963,CH878731,AK093917,AK124072,AL547016,AV660600,BC008081,BC012994,BC071982,CR595066 CAA45277,P33947,Q6IPC5,ABM83805,ABM87127,NP_001094073,NP_006845,AAS02002,EAL23722,EAW55029,EAW55030,EAW55031,AAH08081,AAH12994,AAH71982 Hs.654552,Hs.705873 GDB:135903 ELP-1|ERD2.2 protein-coding 1323044 KDELR3 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified, and it encodes a protein highly homologous to KDELR1 and KDELR2 proteins. Two transcript variants of KDELR3 that arise by alternative splicing, and encode different isoforms of KDELR3 receptor, have been described. 1580863 15489334,15461802,12529303,12477932,10591208,9373149,9118249,8125298 11015 BC096722,BC098131,BC098156,BC098336,CR456509,CR590826,CR594497,CR594712,CR600149,CR612711,CR613642,CR614427,NM_006855,NM_016657,CH471095,CS300667,AK129888,AK222930,AK223238,AK292102,AL035081,AL035082,BC001277 AAH01277,AAH96722,AAH98131,AAH98156,AAH98336,CAG30395,O43731,Q4V750,CAK54539,CAK54838,ABM82666,ABM85843,NP_006846,NP_057839,EAW60237,EAW60238,EAW60239,EAW60240,CAK32331,BAD96650,BAD96958,BAF84791,CAA22673,CAA22674 Hs.705651 GDB:9956150 ERD2L3 protein-coding 731018 KDR kinase insert domain receptor (a type III receptor tyrosine kinase) 1580863,1581717,1304323,1581706,1581713,1626621,1334463,2292019,2291926,2291951,2291925,2291936,2291934,2291949,2291950,2291929,2291952 16530705,17222790,1417831,1656371,18379357,18261985,18211808,18194650,18175243,18164591,18162457,18037047,18035072,17999592,17979890,17961532,17928406,17927494,17891484,17881084,17850794,17722983,17721629,17707181,17702744,17651148,17646929,17641225,17640715,17631646,17599955,17584927,17577783,17575273,17490619,17470361,17462601,17456229,17372230,17336974,17293873,17242158,17088944,17018613,17013089,16951193,16930552,16914267,16914140,16909199,16893970,16870555,16835828,16835467,16807673,16787925,16786116,16782059,16763549,16761623,16684957,16682007,16678129,16648151,16630933,16617095,16574784,16557278,16516857,16513643,16467880,16453023,16439688,16361360,16339483,16322069,16308314,16226108,16169405,16105658,16049137,16007196,15980434,15975559,15962006,15962004,15941713,15845615,15806151,15714119,15693894,15673613,15638384,15637071,15625130,15610528,15522955,15507525,15500293,15492987,15474514,15470196,15291808,15284224,15247219,15217908,16260429,15183893,15175347,15166498,15135259,15135240,15111490,15082792,15060076,15051508,15026417,15016828,14996703,14967383,14764537,14760936,14726393,14724572,14704231,14691147,14687619,14674128,14654077,14635716,14602571,14532277,12949011,12920240,12810080,12670961,12652295,12649282,12607599,12598525,12560084,12551914,12529448,12464608,12456025,12439912,12426207,12213878,12174363,12154000,12067897,12029087,12023952,11994280,11986954,11960378,11950700,11852061,11824379,11809684,11807987,11693202,11688957,11494124,11409852,11387210,11333271,11332691,11166270,11145723,10961983,10873597,10865839,10749680,10692392,10608891,10590123,10579917,10455194,10428027,10371349,10368301,10329451,10319320,10022831,9973224,9621077,9435229,9405464,9398617,9256359,8946838,8621427,8126087,7929439,7736781,7559454,1717995,16697675,15528360,15857508,12716911,12796773,14977921,15542434,12810700,14600159 1581717,1304323,1581706,1581713,1626621,1334463,2292019,2291926,2291951,2291925,2291936,2291934,2291949,2291950,2291929,2291952 3791 NM_002253,AC021220,AC111194,CH471057,X89776,AB209901,AF035121,AF063658,BC131822,CR606055,L04947,X61656 NP_002244,EAX05462,EAX05463,EAX05464,CAA61916,BAD93138,AAB88005,AAC16450,AAI31823,AAA59459,CAA43837,P35968,Q59EB0 Hs.479756 GDB:127921 CD309|FLK1|VEGFR|VEGFR2 protein-coding 1317161 KDSR 3-ketodihydrosphingosine reductase The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. 1598985,1580863 8417785,17420465,16711541,15489334,15328338,14702039,12960700,12477932,7949096 1598985 2531 NM_002035,AC021803,AC036176,CH471096,AF086045,AK025120,AK093874,AK126679,AK312360,BC008797,BI458411,BT006782,CR594682,X63657 NP_002026,EAW63140,EAW63141,BAG35278,AAH08797,AAP35428,CAA45197,Q06136 Hs.74050 GDB:136911 DHSR|FLJ36555|FLJ92680|FVT1 follicular lymphoma variant translocation 1 protein-coding 1605110 KEAP1 kelch-like ECH-associated protein 1 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. 18316592,18240569,18062931,17980616,17925401,17903176,17822677,17636022,17603223,17259171,17145701,17046835,17020408,16508120,16507366,16344560,16204884,16189514,16137655,16006525,16000310,15983046,15917255,15601839,15583386,15572695,15475350,15379550,15282312,15231748,14702039,12947090,12477932,12360409,12145307,11921171,11909699,11439354,9887101,8590280,14517290 9817 NM_203500,NM_012289,AC011461,AF361892,CH471106,AF361886,AK056204,AU130822,BC002417,BC002930,BC003156,BC014118,BC015945,BC021957,CR598894,D50922 NP_987096,NP_036421,AAK43722,EAW84110,EAW84111,EAW84112,AAK51082,AAH02417,AAH02930,AAH15945,AAH21957,BAA09481,Q14145,Q8WTX1,ABM84565,ABM86523,ABW03660 Hs.465870 INrf2|KIAA0132|KLHL19|MGC10630|MGC1114|MGC20887|MGC4407|MGC9454 protein-coding 1316929 KEL Kell blood group, metallo-endopeptidase This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. 1580863 1712490,15769748,7737196,18067501,17379193,16423827,16189514,15754970,15489334,13477267,12842980,12477932,11375401,11134029,10620363,10556484,10438732,9647734,8669078,8652402,7858266,7849312,7683930,7570911,2980265 3792 NM_000420,NG_007492,AC099652,AF172627,AF279657,AM183928,AM183929,AM183930,AY228336,CH236959,CH471198,S80081,AW294875,BC003135,BC050639,M64934,S76770 Q0KH91,Q0KH92,Q0KH93,Q0KH95,Q0KH97,Q16297,Q2A680,Q2A681,Q2A682,ABM87775,ABW03867,NP_000411,AAB33459,AAK69488,CAJ75457,CAJ75458,CAJ75459,AAO38053,EAW51891,EAW51892,EAW51893,AAB47018,AAH03135,AAH50639,AAA03192,AAB33389,P23276,Q06AK5,Q09GN6,Q0KH83,Q0KH84,Q0KH85,Q0KH86,Q0KH87,Q0KH88,Q0KH89,Q0KH90 Hs.368588 GDB:118742 CD238|ECE3 protein-coding 1314078 KERA keratocan Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican (MIM 600616), and mimecan (MIM 602383), are important to the transparency of the cornea.[supplied by OMIM] 1600335,1600400,1580863 16760896,16335952,10802664,17679937,17558846,17011957,16157807,15489334,15370545,12477932,11726611,11683372,10899581,10828599,10565548,10416788,8889548,7601455 1600335,1600400 11081 NM_007035,AC078873,AF065988,CH471054,AF063301,AF205403,BC032667,BM722433,CV571245 NP_008966,AAC17741,EAW97448,AAC16390,AAF69126,AAH32667,O60938,ABM81817,ABM84972 Hs.125750 GDB:252121 CNA2|SLRR2B protein-coding 1353242 KERSMCR cytokeratin, Smith Magenis syndrome chromosome region 10615134,1694815 27168 GDB:10795912 1346346 KFM Klippel-Feil malformation 3793 GDB:265291 1347758 KFSD keratosis follicularis spinulosa decalvans 3794 GDB:128174 1606385 KGFLP1 keratinocyte growth factor-like protein 1 15809711,14702039,12477932 387628 NR_003674,AL590399,AF523265,AK054997,AY098593,BC101842,BC112977,BC112978 CAI94896,AAM82158,AAM34503,AAI01843,AAI12978,AAI12979,Q2TVT4,Q8NFD4 Hs.439341 MGC125746|MGC125747|MGC126891 pseudo 1348536 KHDC1 KH homology domain containing 1 17913455,14702039,12477932,8889548 80759 NM_030568,AC019205,AL365232,CH471051,AK054891,BC004267,BC022080,BM725230,CR936715,DB477180 NP_085045,CAI39831,CAI95051,EAW48776,EAW48777,EAW48778,EAW48779,EAW48780,BAB70824,AAH22080,Q4VXA5,Q5JSQ7 Hs.433062,Hs.663639 C6orf148|MGC10818|NDG1|bA257K9.4 protein-coding 734416 KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 1580863 16568089,16362077,16179349,16169070,16083285,15782174,15701759,15635413,15619005,15489334,15231748,15021911,14702039,14647465,12529443,12496368,12482964,12478298,12477932,12370810,12370808,12134041,12112020,12029088,11932418,11604231,11483766,11437596,11254726,10962565,10951562,10913193,10820259,10805734,10749975,10748127,10564820,10564280,10467411,1374686,9045636,11278465,11585385,16341228,9013542,18394557,17855053,17764653,17371836,17179751,17081983,16795043,16710414,10437794,10371501,10332027,9872323,9804166,9743338,9564850,9362449,9315629,9315091,9201297,9010224,8995379,8985255,8810341,8766817,8702753,8576157,7799925,7537265,7516469,1545818,16236470 10657 NM_006559,AL139249,AL445248,CH471059,AK091346,BC000717,BC010132,BC019109,CR593653,CR606103,CR616264,CR625346,M88108,U78971 NP_006550,CAH71944,CAH71945,EAX07574,EAX07575,EAX07576,EAX07577,BAC03643,AAH00717,AAH10132,AAH19109,AAA59990,AAB47504,Q07666,ABM86249 Hs.709204 GDB:9958104 FLJ34027|Sam68|p62 src associated in mitosis, 68 kda protein-coding 1349535 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 1580863 16189514,15345239,14702039,12549823,12529443,12477932,10077576 202559 AL049544,AL133459,AL138882,AL161440,AL355347,AL360220,AL391644,AL590202,CH471143,Z93021,AK095983,AK292043,AY077838,BC034043,NM_152688 NP_689901,CAI19918,CAH70882,CAI15262,EAW88489,EAW88490,EAW88491,CAI21649,BAF84732,AAL77219,AAH34043,Q5VWX1 Hs.519794 GDB:11508942 FLJ38664|MGC26664|SLM-1|SLM1|bA535F17.1 protein-coding 1354239 KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 1580863 10332027,17081983,16810759,16189514,15901763,15489334,15163637,12921630,12529443,12477932,11741900,11714634,11463515,11118435,10749975,10564820,10077576 10656 NM_006558,AC040914,AC104371,CH471060,AF051321,AF051322,AF069681,BC032606,BC068536,CR591014 NP_006549,EAW92182,AAC99294,AAC99295,AAC24857,AAH32606,AAH68536,O75525,ABM81812,ABM84967 Hs.444558 GDB:9958102 Etle|SALP|SLM-2|SLM2|T-STAR|TSTAR|etoile protein-coding 69145 KHK ketohexokinase (fructokinase) This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863,1300048 7833921,17353931,11256614,16381901,16372272,16344560,15489336,15489334,12941785,12477932,11076863,9799106,9373149,8889548,8662230,8125298,2996495 3795 BC006233,BM681082,BX648873,CR456801,CR591043,CR600808,CR603641,CR604516,CR608955,CR610051,CR612248,CR617023,CR618568,CR622392,CR622479,CR625259,DA068313,X78677,X78678,NM_006488,AC013403,AJ005168,CH471053,Y09336,Y09340,Y09341,AB209518,AK130033,AK223075,NM_000221 AAH06233,CAG33082,CAA55346,CAA55347,P50053,Q0JTJ8,Q53G56,Q59FE2,Q6IBK2,CAL38164,NP_000212,NP_006479,AAX93167,CAA06409,EAX00640,EAX00641,EAX00642,EAX00643,CAA70516,CAA70521,CAA70522,CAA70523,BAD92755,BAD96795 Hs.567297 GDB:391903 protein-coding 1346854 KHRBP1 KH-type RNA binding protein 1 80711 GDB:11500851 1346672 KHSRP KH-type splicing regulatory protein 10911989,17353931,9136930,17908789,17177604,17081983,16964243,16648466,15606899,15514971,15175153,14657238,12477932,11719186,11003644,10781591,10087204,9858532,8940189,8889548,1602151 8570 NM_003685,AC011491,AC011539,AF093747,AF093748,CH471139,AA976482,AB209662,BC009473,BC085004,BQ186683,CB216491,CF123311,DC388502,U69126,U94832 NP_003676,AAD29861,AAD29862,EAW69095,EAW69096,EAW69097,BAD92899,AAH85004,AAC50892,AAB53222,Q92945 Hs.708128 GDB:9955666 FBP2|FUBP2|KSRP|MGC99676 protein-coding 1318702 KIAA0020 KIAA0020 1580863 10942595,18093280,17558408,16344560,15635413,15489334,15164053,12477932,12429849,12135428,11790298,11148223,9373149,8125298,7584028,7584026 9933 NM_014878,AL354723,AL589675,CH471071,AF490254,AK225953,AK292169,AL832239,AL832245,AY047588,AY047589,AY047590,BC016137,CR456957,CR605925,CR607424,D13645,DA358022 NP_055693,EAW58802,AAO85462,BAF84858,AAL06072,AAL06073,AAL06074,AAH16137,CAG33238,BAA02808,Q15397 Hs.493309 GDB:9784315 HLA-HA8|MGC8749|PEN|PUF6|RP11-526D20.2|XTP5 protein-coding 2290033 KIAA0040 KIAA0040 16710414,15489334,12477932,7584028,7584026 9674 XR_041165,XR_041163,XR_041164,NR_015350,AL008626,CH471067,AL049799,AL049800,BC020789,BC032361,BC050374,BC111699,CR602920,CR618094,CR625052,D25539 EAW90987,EAW90988,EAW90989,EAW90990,EAW90991,CAB42560,CAB42561,AAH20789,AAI11700,BAA05022,Q15053,Q8WW72,ABZ92279 Hs.518138 MGC133301 miscrna 1317204 KIAA0082 KIAA0082 1580863 17081983,15489334,14574404,12477932,7788527 23070 NM_015050,AL353597,CH471081,AK025809,AK292564,BC010731,BC031890,CR617509,D43949 NP_055865,CAI19602,CAI19603,CAI19606,EAX03946,BAF85253,AAH10731,AAH31890,BAA07893,Q8N1G2 Hs.520102 GDB:9784598 FLJ22156 protein-coding 2292468 KIAA0087 KIAA0087 16344560,12690205,12477932,11181995,9847074,7788527 9808 XM_001723668,XM_001722166,XM_001723724,NR_022006,AC004947,CH236948,CH471073,BC128257,D42038,DB147006 XP_001723720,XP_001722218,XP_001723776,AAQ96877,EAL24233,EAW93856,AAI28258,BAA07639,Q14695,Q75MW1 Hs.69749 miscrna 1602125 KIAA0090 KIAA0090 17353931,16710414,16303743,15489334,14702039,12477932,7788527 23065 NM_015047,AL035413,AL357564,CH471134,AK025853,AK075563,AK124740,AK291618,BC016303,BC034589,BX648627,BX648708,D42044 NP_055862,CAI22234,CAI22235,CAI22236,CAI22237,EAW94870,EAW94871,EAW94872,BAC11702,BAF84307,AAH34589,CAH56140,CAH56165,BAA07645,Q5TG59,Q5TG60,Q5TG62,Q8N766 Hs.439200 RP1-43E13.1 protein-coding 1605423 KIAA0100 KIAA0100 16289875,15489334,14702039,12477932,7788527 9703 NM_014680,AC005726,CH471159,AK130007,AY288965,AY943906,BC008591,BC048096,BC050440,BC103726,BC120873,CN482281,CR604364,CR626807,CR933634,D43947 NP_055495,EAW51112,EAW51113,EAW51114,EAW51115,BAC85274,AAQ93061,AAY19515,AAH08591,AAH48096,AAI03727,AAI20874,CAI45940,BAA07891,Q08E86,Q14667 Hs.591189 BCOX|BCOX1|DKFZp686M0843|MGC111488|MGC134981 protein-coding 1353661 KIAA0101 KIAA0101 1580863 12477932,11313979,7788527,18068894,16646990,16288740,15789362,15489334,15334068 9768 NM_001029989,NM_014736,AC087632,CH471082,AF529370,AK290748,AV757440,AY598324,BC005832,BC007101,BC016782,BG502841,CR595526,CR602847,CR604158,D14657 NP_001025160,NP_055551,EAW77679,AAQ09604,BAF83437,AAT06735,AAH05832,AAH07101,AAH16782,BAA03491,Q15004 Hs.81892 GDB:9784692 L5|NS5ATP9|OEATC-1|OEATC1|PAF|p15(PAF) protein-coding 1603384 KIAA0114 KIAA0114 12477932,7788527 57291 BC045566,BC015222,D28589 Hs.656255 GDB:9784753 KIAA00167 protein-coding 1346014 KIAA0125 KIAA0125 8590280 9834 Q14138 NM_014792,AB019441 GDB:9784803 1346688 KIAA0133 KIAA0133 737633,1580863 15635413,15265697,12477932,11790298,8590280 737633 9816 BC114559,BC114963,D50923,NM_014777,AL121990,AL354983,CH471098,CQ834432,AK291013,BC059381 AAH59381,AAI14560,AAI14964,BAA09482,Q14146,Q5VYC9,Q5VYD0,Q6PCC8,NP_055592,CAI22017,CAH70040,CAH70043,EAW69904,EAW69905,CAH05431,BAF83702 Hs.533628 GDB:9784842 MGC138837|MGC138838 protein-coding 1353765 KIAA0141 KIAA0141 1580863 10942595,15489334,12477932,8590280 9812 NM_014773,AC005740,CH471062,AK292869,BC007855,BC010452,BC011269,BC011926,BC035486,CR592769,CR598527,D50931 NP_055588,EAW61899,BAF85558,AAH07855,AAH10452,AAH11269,AAH11926,BAA09490,Q14154 Hs.210532 GDB:9784882 protein-coding 1603315 KIAA0146 KIAA0146 15858003,15502879,15489334,14702039,12477932,8590280 23514 NM_001080394,AC023991,AC024451,AC024649,AC104995,AC142471,AK026929,AK055680,AK122820,BC015561,CR614430,D63480 NP_001073863,AAH15561,BAA09767,Q14159,AAI56772 Hs.381058 protein-coding 1354476 KIAA0152 KIAA0152 1580863 15489334,12477932,8590280 9761 NM_014730,AC069234,CH471054,AK124275,BC000371,BC016297,BE622248,BF794298,BQ183402,BU845446,CA423273,CR599411,CR611089,D63486,U88835 NP_055545,EAW98212,EAW98213,EAW98214,AAH00371,AAH16297,BAA09773,Q14165 Hs.507074 protein-coding 1318962 KIAA0157 KIAA0157 737633 17353931,17081983,16344560,15489334,15231748,15144186,12477932,8590280 737633 23172 NM_032182,AC068896,CH471066,AK025991,AL537809,BC008999,BQ000004,D63877,DA148097 NP_115558,EAW49256,EAW49257,AAH08999,BAA09927,Q15018 Hs.280695 GDB:9784954 ABRO1|FLJ22338 protein-coding 1605407 KIAA0174 KIAA0174 16713569,10942595,16189514,15592455,15489334,14702039,12761501,12477932,8724849 9798 NM_014761,AC009127,CH471166,CQ834564,AB097052,AK057902,AK291388,AK293022,AK293040,AL355695,BC000116,BC000430,BC004359,BC103745,CR592890,CR601400,CR608887,CR623090,D79996 NP_055576,EAW59205,EAW59206,EAW59207,EAW59208,EAW59209,CAH05497,BAC77405,BAF84077,BAF85711,BAF85729,AAH00116,AAH00430,AAH04359,AAI03746,BAA11491,P53990,Q3SYM4 Hs.232194 MGC117220 protein-coding 1604378 KIAA0182 KIAA0182 16189514,15489334,15302935,15231747,12493763,12477932,8889548,8724849 23199 BC009854,BC037556,BG288870,BM451214,BM747744,BM979951,BQ214916,CR595977,CR616505,CR622627,D80004,H09100,NM_014615,AC123908,CH471114,AK127344,AW500000,BC000753 AAH09854,AAH37556,BAA11499,Q14687,Q59GZ0,NP_055430,EAW95445,EAW95446,EAW95447,EAW95448,EAW95449,AAH00753 Hs.461647 GSE1 protein-coding 1605409 KIAA0195 KIAA0195 16344560,15489334,15146197,14702039,12477932,9110174,8724849,8619474 9772 NM_014738,AC100787,CH471099,AF070545,AK094864,AK128508,BC042942,BC045540,CN307648,CR936809,D83779,DA193442,DB545285,H06743 NP_055553,EAW89274,EAW89275,EAW89276,EAW89277,AAC28636,BAC04440,AAH42942,AAH45540,BAA12108,Q12767,Q49A83,Q8N1U7 Hs.514474 DKFZp781M1056|FLJ37545|TMEM94 protein-coding 1605096 KIAA0196 KIAA0196 17160902,16344560,15489334,14603436,12665801,12477932,9973294,9373149,8724849,8125298 9897 NM_014846,AC009908,AC126366,CH471060,AI266595,AK223628,AK291032,BC026951,BC106015,CR620759,D83780,DA185885 NP_055661,EAW92080,EAW92081,EAW92082,BAD97348,BAF83721,AAH26951,AAI06016,BAA12109,Q12768,Q53EL1 Hs.270043 MGC111053|SPG8 protein-coding 1353596 KIAA0226 KIAA0226 737633 16641997,12477932,11181995,9039502 737633 9711 NM_014687,AC024560,CH471252,BC014173,BC033615,CR601728,D86979,BX647598 NP_055502,EAW92238,EAW92239,AAH14173,AAH33615,BAA13215,Q5HYI6,Q8N4U6,Q92622,Q96CK5,CAI46107,AAI60011 Hs.478868 protein-coding 1602497 KIAA0232 KIAA0232 17081983,16344560,14702039,12477932,12168954,9039502 9778 NM_014743,NM_001100590,AC106045,CH471131,AF143884,AK124715,BC150286,BU618566,CR457160,CR613368,D86985,DA137144,DA652967,EF553521 NP_055558,NP_001094060,EAW82378,AAD32701,AAI50287,CAG33441,BAA13221,ABQ66267,Q92628,Q9Y349 Hs.79276 protein-coding 1313851 KIAA0240 KIAA0240 14702039,14574404,12477932,12421765,9039502 23506 NM_015349,AL035587,AL353716,CH471081,AK091434,AK093526,AK128771,AL833540,BC015724,BC033963,BC047630,BC130302,CR627378,D87077 NP_056164,CAI21488,CAI14820,EAX04102,AAI30303,CAH10475,BAA13246,Q6AI39 Hs.658033 DKFZp686P0250 protein-coding 1604629 KIAA0241 KIAA0241 17229886,14702039,12690205,12477932,9039502 23080 NM_015060,AACC02000087,AC018633,AC018641,CH471073,AK090619,AL833560,BC027724,D87682 NP_055875,EAL24439,EAW93992,EAW93993,EAW93994,EAW93995,EAW93996,EAW93997,BAC03489,CAH10387,AAH27724,BAA13435,Q8N6Z3,Q8NBF6 Hs.128056 AVL9|DKFZp686G0344 protein-coding 1349623 KIAA0247 KIAA0247 1580863 15489334,12477932,9039502 9766 NM_014734,AL133445,AL355837,CH471061,AK130809,BC064697,D87434 NP_055549,EAW81001,AAH64697,BAA13378,Q92537 Hs.440025 protein-coding 1605418 KIAA0256 KIAA0256 gene product 15489334,12477932,9039502,16189514 9728 NM_014701,AC091073,CH471082,BC008635,BC033001,D87445 NP_055516,EAW77360,EAW77361,EAW77362,AAH33001,BAA13386,Q93073 Hs.9997 GDB:9785381 protein-coding 1602130 KIAA0265 KIAA0265 protein 12690205,12477932,9039502 23008 NM_014997,AC087071,CH236950,CH471070,BC009977,BC036464,BC044884,D87454 BAA13395,Q6PID8,Q86Y99,Q96G43,NP_055812,EAL24096,EAW83744,EAW83745,EAW83746,AAH09977,AAH36464,AAH44884 Hs.520710 GDB:9785408 protein-coding 1604050 KIAA0280 KIAA0280 15489334,12477932,9039502 23201 NM_015159,AP000763,AP000860,AK292054,BC014932,BC052341,D87470,EF197985,EF363480 NP_055974,BAF84743,AAH52341,BAA13408,ABM69272,ABM69287,Q92567 Hs.697990 TCRP1 protein-coding 1345091 KIAA0284 KIAA0284 737633 15489334,15146197,14702039,12508121,12477932,9179496 737633 283638 NM_015005,NM_001112726,AL583810,CH471061,AB006622,AK025023,AK091980,AL537476,BC047913,BC112928,BU170784,CB156500,CN314060,CR596525,CR616886 NP_055820,NP_001106197,EAW81886,BAA22953,AAH47913,AAI12929,Q9Y4F5 Hs.533721 FAM68C|MGC131679 protein-coding 1316884 KIAA0317 KIAA0317 1580863 15489334,12508121,12477932,9205841 9870 NM_001039479,AC007956,CH471061,AB002315,BC032944,BI459956,BX248747,CR600611 NP_001034568,AAF61276,EAW81186,BAA20775,AAH32944,CAD66554,O15033,Q86TS6 Hs.497417 protein-coding 1348294 KIAA0319 KIAA0319 Reading disability, or dyslexia, is a major social, educational, and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to the disorder, with heritable variation estimated at 50 to 70% (see MIM 127700).[supplied by OMIM] 17846832,17597587,17450541,17033633,16600991,15717286,15514892,14574404,12834540,12477932,12421765,9915954,9205841,7939663,1354641 9856 NM_014809,AL031230,AL031775,AL512385,CH471087,AB002317,AF086065,AL044313,BC140821,BC152460,BX646625 NP_055624,CAI22601,CAH71730,EAW55455,EAW55456,EAW55457,BAA20777,AAI40822,AAI52461,Q5VV43 Hs.26441 GDB:437584 DLX2|DYLX2|DYX2|MGC176717 protein-coding 1605339 KIAA0319L KIAA0319-like This gene encodes a member of the polycystin protein family. Members of this protein family may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. Two transcript variants encoding distinct isoforms have been identified for this gene. 14702039,12477932,11347906 79932 NM_024874,NM_182686,AC004865,AL356362,AL445211,CH471059,AB058740,AF275679,AF289597,AK022734,AK024287,AK090878,AK097096,AK097107,AL834315,AY163234,BC001858,BC007645,BC014530,BC031672,BX471865,CR620203 NP_079150,NP_872628,AAD05028,CAI22688,CAI22689,CAI22690,CAI23123,CAI23124,CAI23125,EAX07413,EAX07414,EAX07415,EAX07416,BAB47466,AAG24389,AAL55781,BAB14213,BAB14874,BAC03536,CAD38985,AAN61054,AAH01858,AAH07645,AAH14530,AAH31672,Q5T225,Q8IZA0,Q9H9L2,Q5T223,Q5T224 Hs.456507 KIAA1837|PKD1-like|PP791|RP4-765A10.3 protein-coding 1316201 KIAA0323 KIAA0323 17081983,16344560,15489334,12477932,9205841 23351 NM_015299,AL132800,CH471078,AB002321,AK291680,BC015780,BC042554,BM464048,BX161465,CB115247,DA674601 NP_056114,EAW66013,EAW66014,EAW66015,BAA20781,BAF84369,AAH15780,AAH42554,CAD61924,O15037 Hs.700630 protein-coding 1316735 KIAA0329 KIAA0329 12477932,9205841 9895 NM_014844,AL136293,AL137229,CH471061,AB002295,AB002327,AK127721,BC030791,BC142667,BC142715,BC151230 NP_055659,EAW81787,EAW81788,EAW81789,EAW81790,BAA20757,BAA20787,BAC87100,AAI42668,AAI42716,AAI51231,O15040,Q6ZS54 Hs.195667 KIAA0297 protein-coding 1318189 KIAA0355 KIAA0355 12477932,11337467,10737800,9205841 9710 BC104761,BC104763,BC128232,BF760219,NM_014686,AC010504,AC010614,AC016627,AC092080,AB002353,AU100313,BC017790 AAI04762,AAI04764,AAI28233,O15063,Q2M3W4,NP_055501,BAA20812 Hs.330073,Hs.677507 protein-coding 1322760 KIAA0367 KIAA0367 737633 16288218,17081983,15489334,15164053,12477932,12168954,9205841 737633 23273 Q58A63,Q5JUB9,Q5T473,Q5T474,Q5T475 BC022571,CH471089,AB002365,AB050197,AL834213,AY439213,AY439214,NM_015225,AL161626,AL359314 AAH22571,Q58A63,Q5JUB9,Q5T473,Q5T474,Q5T475,CAI10915,EAW62581,EAW62582,EAW62583,EAW62584,EAW62585,EAW62586,EAW62587,EAW62588,BAA20822,BAD93351,AAR15150,AAR15151,NP_056040,CAI39747,CAI39749,CAI39750,CAI39752,CAI10912,CAI10914 Hs.262857 A214N16.3|BMCC1|BNIPXL|bA214N16.3 protein-coding 1314598 KIAA0368 KIAA0368 737633 15496406,15489334,15302935,15164053,14702039,12477932,9205841,9110174,8619474,17353931,16189514,14743216 737633 23392 AK025689,AK027063,AK122712,AK127247,BC021127,CR617979,AK024705,NM_001080398,AL159168,AL354661,AB002366,AF052139 AAH21127,Q5VYK3,Q5VYK5,NP_001073867,CAH73465,CAH73240,CAH73241,BAA20823 Hs.368255 ECM29|FLJ22036|KIAA1962|RP11-386D8.2 protein-coding 1314461 KIAA0372 KIAA0372 737633 15489334,15231748,12477932,9205841 737633 9652 NM_014639,AC090071,CH471084,AB002370,BC009767,BC015163,BC030966,BC056893 NP_055454,EAW96037,EAW96038,BAA20827,AAH15163,AAH56893,Q6PGP7 Hs.482868 MGC32587|TTC37 protein-coding 1312913 KIAA0391 KIAA0391 12477932,9205841 9692 NM_014672,AL121594,CH471078,AB002389,BC001542,BC032221,BC044580,BX161394,BX161487,CR595114,CR596426 NP_055487,EAW65878,EAW65879,EAW65880,EAW65881,EAW65882,EAW65883,EAW65884,BAA20845,AAH32221,AAH44580,CAD61881,CAD61937,O15091,Q86SZ4,Q86YB5,Q8N5L5 Hs.458487 GDB:9785782 protein-coding 1605708 KIAA0406 KIAA0406 17081983,15489334,12477932,11780052,9455477 9675 NM_014657,AL109823,CH471077,AB007866,BC013121,BC013755,BC107778,BC131759,CR596340,CR607862 CAI19022,NP_055472,EAW76047,EAW76048,EAW76049,EAW76050,BAA23702,AAH13121,AAH13755,AAI07779,AAI31760,O43156,Q3B768,Q5JX68 Hs.655481 protein-coding 1345855 KIAA0408 KIAA0408 16189514,15489334,14702039,14574404,12477932,9455477 9729 NM_014702,AL096711,AB007868,AK091424,AK125983,AK127114,BC018396,CR591062 NP_055517,CAB65988,BAA23704,BAC86375,AAH18396,Q6ZU52 Hs.319247 GDB:9958180 FLJ43995|RP3-403A15.2 protein-coding 1603685 KIAA0409 KIAA0409 17081983,16964243,16565220,15489334,12477932,12429849,11790298,9455477 23378 NM_015324,AC009796,AC091564,CH471064,AB007869,BC001071,CR607023,CR619123,CR619836,D87060 NP_056139,EAW68691,BAA23705,AAH01071,BAB46916,O43159 Hs.652255 RRP8 protein-coding 1626268 KIAA0415 KIAA0415 15489334,14702039,12853948,12690205,12477932,9455477,16189514 9907 NM_014855,AC092610,CH236953,CH471144,AK092068,BC008841,BC014240,BC037399,BI766915,CR616696,CR617705,AB007875 NP_055670,EAL23965,EAW87294,EAW87295,EAW87296,EAW87297,EAW87298,EAW87299,AAH08841,AAH37399,O43299,BAA24845 Hs.558440 GDB:9958473 protein-coding 1321397 KIAA0423 KIAA0423 1580863 16335990,15489334,14702039,12477932,12168954,9455477 23116 AL121809,CH471078,AB007883,AK096934,BC057255,BC065234,BX648723,CR749557,NM_015091,AL049870 EAW65790,EAW65791,BAA24853,AAH57255,AAH65234,CAH18354,Q6P183,Q9Y4F4,NP_055906 Hs.371078 GDB:9955015 DKFZp686D12126 protein-coding 1350648 KIAA0427 KIAA0427 1580863 15489334,14702039,12477932,9455477 9811 NM_014772,AC022919,AC048380,AC093567,CH471096,AB007887,AK095970,BC042146 NP_055587,EAW62925,EAW62926,EAW62927,EAW62928,BAA24857,AAH42146,O43310 Hs.145230 GDB:9958298 Gm672 protein-coding 1605711 KIAA0430 KIAA0430 17081983,15932519,15616553,15489334,15146197,14702039,12477932,10493829,9455477,8889548 9665 NM_014647,AC026401,CH471226,U95740,AB007890,AB012134,AK095840,AK124564,BC041135,BC064914,BC127740,BC137165,BC137170,BC139919,BC141831,BU607280,BX510172,CN310535 NP_055462,EAW53920,EAW53921,EAW53922,EAW53923,AAC31662,BAA24860,BAB82433,AAH64914,AAI37166,AAI37171,Q9Y4F3 Hs.173524 A-362G6.1|LKAP protein-coding 1601883 KIAA0460 KIAA0460 15231747,17081983,16964243,16710414,15489334,14702039,12477932,12168954,9455484 23248 AL356356,AL611942,BX284695,CH471121,AB007929,AF161362,NM_015203,AK022984,AK026120,AK056707,AK125864,AK291703,BC045623,BX641025,DC369862 NP_056018,CAI15496,CAI15497,CAH70313,CAH70314,CAH70315,CAI17373,CAI17374,EAW53551,EAW53552,EAW53553,EAW53554,EAW53555,BAA32305,AAF28922,BAF84392,AAH45623,CAE46016,Q5VT51,Q5VT52,Q9P0D7 Hs.213666 FLJ32145|HSPC099 protein-coding 1603692 KIAA0467 KIAA0467 14702039,12477932,11181995,9455484,16710414,15489334 23334 NM_015284,AL583862,CH471059,AB007936,AK001249,AK027078,AK126972,AL117402,BC041069,BC052802,BC082968,BC151232 NP_056099,CAI14886,CAI14887,CAI14888,EAX07095,EAX07096,EAX07097,EAX07098,BAA32312,BAB15649,BAC86771,CAB55903,AAH41069,AAH52802,AAH82968,AAI51233,Q5T011 Hs.708007 FLJ10387|FLJ23425|RP11-506B15.3 protein-coding 1605111 KIAA0494 KIAA0494 17672918,15489334,14702039,12477932,9455484 9813 NM_014774,AL593856,CH471059,AA974135,AB007963,AK001487,BC002525,BC018842,CR606100 NP_055589,CAI16979,EAX06893,EAX06894,BAA32328,AAH02525,O75071,Q5SXB8 Hs.100874 RP11-8J9.3 protein-coding 1625138 KIAA0495 KIAA0495 12477932,9455484 57212 NM_207306,AL136528,CH471130,AB007964,AL133648,BC013872,BC035073,BC044603,BC089039,BC093699,BC111984 NP_997189,EAW71471,EAW71472,EAW71473,EAW71474,CAB63767,AAH93699,AAI11985,Q9UF72 Hs.49658 MGC138189 protein-coding 1351889 KIAA0513 KIAA0513 737633 17010949,15489334,12477932,9628581,9110174,8619474 737633 9764 NM_014732,AC026469,AC092341,CH471114,AB011085,AF055005,BC030280,CR609367,CR617707,U79288 NP_055547,EAW95460,EAW95461,EAW95462,BAA25439,AAH30280,O60268 Hs.301658 GDB:9958198 protein-coding 1346299 KIAA0515 KIAA0515 737633 17203973,17081983,16189514,15489334,15164053,15146197,14702039,12477932,9628581 737633 84726 NM_013318,AL354855,AL358781,AB011087,AK025675,AK026025,AK026162,AK055916,AL050142,AL137365,AY700780,BC002872,BC002969,BC012289,BC012451,BX647528,BX647842,CN369737,CR597308,CR612608,CR749818,CR933661 NP_037450,CAI40214,CAI40215,CAI40216,CAI40217,CAI40218,BAA25441,BAB15380,AAU10087,AAH02872,AAH02969,AAH12289,CAH18678,CAI45959,O95209,Q5H9R5,Q5JSZ5,Q5JSZ8,Q5JSZ9,Q5JT00,Q68CR0,Q9BU09,Q9BU62 Hs.495349 GDB:9955019 DKFZp781F05101|DKFZp781K12107|LQFBS-1|MGC10526|RP11-334J6.1 protein-coding 736134 KIAA0528 KIAA0528 17353931,17081983,15489334,15302935,12477932,9628581 9847 NM_014802,AC053513,CH471094,AB011100,AY166851,BC042498,BC053885,BC117143,BX648560 NP_055617,EAW96473,EAW96474,EAW96475,EAW96476,BAA25454,AAO17290,AAH42498,AAH53885,AAI17144,Q86YS7 Hs.271014 DKFZp779N2044 phosphatidylinositol glycan, class l protein-coding 1604044 KIAA0556 KIAA0556 14702039,12477932,12421765,9628581 23247 NM_015202,AC002551,AC008732,AC016597,AC025275,AC092330,CH471145,AB011128,AK097485,BC041053,BC131508,BC150276 NP_056017,EAW55743,BAA25482,BAC05073,AAI50277,O60303,Q8N803 Hs.460459 protein-coding 1605416 KIAA0562 KIAA0562 16710414,16344560,15489334,12477932,9628581,7488117 9731 NM_014704,AL365330,AL691523,CH471130,AB011134,BC001640,BC026020,BC047450,BC050721,BM052650,DA081362,DA652315 NP_055519,CAI42527,CAI42529,CAI17366,CAI17367,CAI17368,CAI17369,EAW71481,EAW71482,EAW71483,EAW71484,BAA25488,AAH01640,AAH47450,AAH50721,O60308 Hs.133089,Hs.509017 GlyBP|RP1-286D6.4 protein-coding 1604630 KIAA0564 KIAA0564 14702039,12477932,12421765,9628581 23078 NM_015058,NM_001009814,AL160252,AL161417,AL163544,AL354833,AL442203,CH471075,AA648780,AB011136,AK025432,AK095155,AL834181,BC042924,BC053674,BC131802 NP_055873,NP_001009814,CAI39586,CAH70372,CAH70373,EAX08665,EAX08666,EAX08667,BAA25490,CAD38878,AAH42924,AAH53674,AAI31803,O60310,Q5JUE1,Q5VW08,Q5VW09,Q86YC9,Q8N3E4 Hs.368282 FLJ21779 protein-coding 1323087 KIAA0586 KIAA0586 16702409,16344560,15489334,15146197,12477932,9628581 9786 NM_014749,AL135752,AL139021,CH471061,AB011158,AL042761,AY359881,BC000900,BC066647,BX097526,CN281643,CN308043,CR621962,DB271535,DC348119 NP_055564,EAW80739,EAW80740,EAW80741,BAA25512,AAQ63404,AAH00900,AAH66647,Q6NYC6,Q6UV20,Q9BVV6 Hs.232532 GDB:9958201 Talpid3 protein-coding 1352865 KIAA0649 KIAA0649 737633 16053918,15231748,14702039,12477932,12421765,9734811 737633 9858 NM_014811,AL161452,CH471090,AB014549,AK022736,BC017511,BC047935,CR606520 NP_055626,CAI14051,CAI14052,EAW88150,EAW88151,BAA31624,AAH17511,AAH47935,Q5T8A6,Q5T8A7 Hs.533260 GDB:9958324 RP11-426A6.6 protein-coding 1601881 KIAA0664 KIAA0664 15489334,15302935,14702039,12477932,9734811 23277 NM_015229,AC005696,CH471108,AB014564,AK023003,AK074252,AK125717,AW291521,BC004266,BC033614,BC063786,BX648864,CR590286,CR598422,CR627449 NP_056044,EAW90532,EAW90533,EAW90534,BAA31639,BAB14354,BAC86257,AAH04266,AAH33614,AAH63786,CAH10532,O75153,AAI56058,AAI56941 Hs.22616 CLU1|DKFZp686L05242|DKFZp686M09233|FLJ23672 protein-coding 1604048 KIAA0746 KIAA0746 protein 17457313,12477932,9872452,9847074 23231 NM_015187,AC020706,AC092436,AC133961,CH471069,AB018289,AK025282,AK123293,AK289687,BC009945,BC029422,BC041046,BC060867,CR591434,CR749817,DB479874 NP_056002,EAW92843,EAW92844,BAA34466,BAF82376,AAH09945,AAH29422,AAH60867,CAH18677,Q68CR1 Hs.479384 GDB:9955405 DKFZp781J1697|FLJ21629|FLJ41299 protein-coding 1605107 KIAA0748 KIAA0748 12477932,9872452 9840 NM_001098815,AC079842,CH471054,AB018291,AF161375,BC037220,BC044578,BC132732,BC132734,CR600998 NP_001092285,EAW96799,EAW96800,EAW96801,BAA34468,AAF28935,AAH44578,AAI32733,AAI32735,A2RU30 Hs.33187 HSPC257 protein-coding 1605106 KIAA0753 KIAA0753 16344560,12477932,9872452 9851 NM_014804,AC004706,AC015916,CH471108,AB018296,AK292876,AL080108,BC017566,BC113016,BC113017,CR597760,DB075150 NP_055619,EAW90303,BAA34473,BAF85565,CAB45712,AAH17566,AAI13017,AAI13018,Q2KHM9 Hs.28070 MGC130040|MGC130041 protein-coding 1346037 KIAA0774 KIAA0774 16189514,12477932,9872452 23281 NM_001033602,NM_015233,AL160255,AL596092,AL596114,AL607144,CH471075,AB018317,BC032481,BC119654,BC119655,BC129985,BC150245,BM906724,BU788127 NP_001028774,NP_056048,CAI39910,CAI39912,EAX08439,EAX08440,BAA34494,AAH32481,AAI19655,AAI19656,AAI29986,AAI50246,Q5JR59 Hs.22287 GDB:9955447 protein-coding 1319587 KIAA0776 KIAA0776 17353931,17081983,15489334,15302935,14574404,12477932,9872452 23376 NM_015323,AL132776,AL590404,CH471051,AB018319,AJ420579,BC015377,BC028608,BC036379,CR609694 NP_056138,CAI20401,CAH73710,EAW48506,EAW48507,EAW48508,BAA34496,AAH15377,AAH28608,AAH36379,O94874,Q49AT0 Hs.149367 GDB:9955951 RP3-393D12.1 protein-coding 1348438 KIAA0802 KIAA0802 737633 17081983,16964243,16565220,16177791,15489334,14702039,14676191,12477932,9872452 737633 23255 AP000864,NM_015210,AP001531,AB018345,AK131528,BC040542,BX648455,BX648911 NP_056025,BAA34522,BAD18666,AAH40542,Q9Y4B5 Hs.650822 GDB:9955426 protein-coding 1312148 KIAA0831 KIAA0831 17081983,15489334,14702039,12477932,10048485 22863 NM_014924,AL158801,AL356801,CH471061,AB020638,AK131251,AK292810,AL049978,BC028015,BC109089,BC109090 NP_055739,EAW80672,EAW80673,EAW80674,BAA74854,BAD18430,BAF85499,AAI09090,AAI09091,Q32MK8,Q6ZNE5 Hs.414809 GDB:9957212 MGC126291|MGC126292 protein-coding 1317198 KIAA0841 KIAA0841 737633 15489334,12477932,10048485 737633 23354 NM_015302,AC002115,AB020648,BC013947,BC064390 NP_056117,BAA74864,AAH13947,AAH64390,O94927,AAI60190 Hs.7426 GDB:9955932 protein-coding 1604624 KIAA0859 KIAA0859 16710414,16341674,15489334,14702039,12477932,12168954,10810093,10048485,9373149,8125298,17353931 51603 CH471067,AB020666,AF132936,AK001172,AK027552,AK027621,AK027886,AK074552,AK094818,AK124482,AK129561,AK223493,AK291740,AL049669,BC006814,BC029083,BI091265,BM833930,BX094025,CR594527,CR595608,NM_015935,NM_001007239,NM_014955,AL031864 CAI22003,EAW90911,EAW90912,EAW90913,EAW90914,BAA74882,AAD27711,BAB55240,BAC11055,BAD97213,BAF84429,CAB41243,AAH06814,AAH29083,Q8N6R0,NP_057019,NP_001007240,NP_055770,CAI22000,CAI22001,CAI22002 Hs.708138 GDB:9957290 5630401D24Rik|CGI-01|FLJ10310 protein-coding 1318717 KIAA0892 KIAA0892 16802858,16682347,16368877,15489334,14702039,12477932,10048485,7829101 23383 AC003030,AC022543,CH471106,AB020699,AK001349,AK025285,AK025896,AK098275,AK125914,AK126227,NM_015329,AK128029,AL110250,BC010222,BC063863,BG149411,BG425236,BI492808,BU617329,BU619900,BY795974 NP_056144,AAD03161,EAW84814,EAW84815,EAW84816,EAW84817,BAA74915,BAC05274,BAC86343,BAC86497,BAC87236,CAB53698,AAH10222,AAH63863,Q6ZRS3,Q6ZU83,Q8N7K4,Q9Y4B3,Q9Y6X3 Hs.654939,Hs.699990 GDB:9955957 MAU2L|MGC75361|mau-2 protein-coding 1603687 KIAA0895 KIAA0895 protein 16344560,12477932,10048485 23366 NM_001100425,NM_015314,AC006960,CH236951,CH471073,AB020702,BC028678,BC056191,BC063658,BC110422,BE463421,DB060820,DB462178 NP_001093895,NP_056129,EAW94064,EAW94065,EAW94066,BAA74918,AAH28678,AAH56191,AAI10423,Q8NCT3 Hs.6224 GDB:9955942 protein-coding 1605086 KIAA0907 KIAA0907 16189514,12477932,10048485,9373149 22889 NM_014949,AL355388,CH471121,AB020714,AK225714,AK289902,AY112680,AY112681,AY112682,BC027182,BC062637,CR602947 NP_055764,CAH72623,CAH72624,CAH72625,EAW53021,EAW53022,EAW53023,BAA74930,BAF82591,AAM51855,AAM51856,AAM51857,AAH27182,AAH62637,Q7Z7F0 Hs.24656 RP11-336K24.1 protein-coding 1344378 KIAA0913 KIAA0913 16713569,15197164,14702039,12477932,12107410,10737800,10048485 23053 NM_015037,AC022400,CH471083,AB020720,AK023742,AK091621,AL133662,AW997845,BC036835,BC040726,BC063694,BC111006,BC117205,BC151206,BM193415,CF272587,CR610954,CA390537 NP_055852,EAW54521,EAW54522,EAW54523,EAW54524,BAA74936,BAB14664,BAC03709,AAH36835,AAH40726,AAH63694,AAI11007,AAI17206,AAI51207,A7E2V4,Q8N420,AAI56551 Hs.65135 GDB:9954723 FLJ34302 protein-coding 1604047 KIAA0922 KIAA0922 16344560,14702039,12477932,11230166,10231032 23240 NM_015196,AC106865,AC116648,CH471056,AB023139,AK001454,AK092270,AK096538,AK128028,AL136932,BC044932,BC131505,BQ270562,DA778851 NP_056011,EAX04956,EAX04957,EAX04958,EAX04959,BAA76766,CAB66866,AAH44932,AAI31506,A2VDJ0 Hs.205572 DKFZp586H1322|FLJ10592|TMEM131L protein-coding 1603681 KIAA0999 KIAA0999 protein 14976552,16306228,15489334,15334068,14702039,12477932,12168954,10231032,8889549,8889548 23387 BC063887,BC086858,BC121188,BC128510,BC128511,BF055085,BM127054,BM682365,BQ018415,BQ219303,W90813,NM_025164,AP000936,AP003070,AP006216,CH471065,AA044062,AB023216,AB209327,AI479678,AI765994,AI866497,AK022302,AK122838,AY598338,BC035583 AAH35583,AAH63887,AAH86858,AAI21189,AAI28511,AAI28512,Q0IJ40,Q9Y2K2,NP_079440,EAW67278,EAW67279,BAA76843,BAD92564,BAB14006,AAT06749 Hs.167451 GDB:9955959 FLJ12240|L19 protein-coding 1316522 KIAA1009 KIAA1009 16302001,14702039,12522145,12477932,11827452,10231032,11521196,17353931 22832 NM_014895,AL138742,CH471051,AB023226,AK023613,AW069289,BC063632,DC424230 NP_055710,CAI22698,CAO03537,EAW48644,EAW48645,BAA76853,AAH63632,Q5TB80,AAI66703 Hs.485865 C6orf84|FLJ13551|QN1 chromosome 6 open reading frame 84 protein-coding 1319254 KIAA1012 KIAA1012 1580863 16344560,15345747,14702039,12477932,11805826,11230166,10727015,10231032 22878 NM_014939,AC009831,AC022960,CH471088,AA598869,AB023229,AK001662,AK292537,AL136749,BC059380,BC127109,BC127110,BX642999,DA446379 NP_055754,EAX01271,EAX01272,EAX01273,EAX01274,EAX01275,EAX01276,BAA76856,BAF85226,CAB66683,AAH59380,AAI27110,AAI27111,Q6PCC9,Q9Y2L5 Hs.202001 GDB:9957236 HsT2706|MGC71660 protein-coding 1604043 KIAA1024 KIAA1024 12168954,10470851,9110174,8619474 23251 NM_015206,AC105231,CH471136,AB028947,AF035294,BC152466 NP_056021,EAW99137,BAA82976,AAI52467,Q9UPX6 Hs.301654 protein-coding 2291767 KIAA1024L KIAA1024-like 15372022 100127206 XM_001721301,XM_001722770,XM_001721133,AC008591,CH471062 XP_001721353,XP_001722822,XP_001721185,EAW62380,P59773 Hs.582534 protein-coding 1604041 KIAA1026 kazrin 16713569,16344560,15337775,14702039,12477932,10470851,9110174,8619474 23254 NM_201628,NM_015209,NM_001018000,NM_001018001,NM_001017999,AL031293,AL031732,AL034395,AL035405,AL391215,AL445263,CH471167,AB015329,AB028949,AF052120,AK057155,AK125388,AY505119,AY505120,AY505121,AY505122,BC035501,BC101637,BC113621,BI916330,DA317442,DN831635,DR003677 NP_963922,NP_056024,NP_001018000,NP_001018001,NP_001017999,CAI19827,CAQ07836,CAQ07837,EAW51704,BAA88115,BAA82978,AAS86434,AAS86435,AAS86436,AAS86437,AAH35501,AAI01638,AAI13622,Q5TG91,Q5TGF2,Q674X7,Q9UIL2 Hs.368823 GDB:9955425 DKFZp686D08115|FLJ10199|FLJ32593|FLJ43398|FLJ43806|KIAA1026|MGC126686|MGC142181|RP1-21O18.1 protein-coding 1603694 KIAA1033 KIAA1033 15489334,14702039,12477932,10470851 23325 NM_015275,AC016257,CH471054,AB028956,AF075010,AK001657,AK001728,AK023146,AK026950,AK027218,AL137753,BC012556,BC031358,BC040936,BC104992,BC104994,BC110850 NP_056090,EAW97758,EAW97759,EAW97760,EAW97761,BAA82985,BAA91816,BAA91864,AAH31358,AAH40936,AAI04993,AAI04995,AAI10851,Q2M389,Q9NV91 Hs.12144 protein-coding 1342853 KIAA1045 KIAA1045 1580863 15164053,12477932,10470851 23349 NM_015297,AL355377,CH471071,AB028968,AL137621,AY956806,AY956807,AY956808,BC041169 NP_056112,CAI13804,EAW58408,BAA82997,AAX51884,AAX51885,AAX51886,Q58FF1,Q5T661,Q9UPV7 Hs.7989 GDB:9955929 DKFZp434I2112|RP11-392A14.4 protein-coding 1604036 KIAA1107 KIAA1107 12477932,10470851 23285 XM_034086,XM_937137,AC104836,AB029030,AF017090,BC037317 XP_034086,XP_942230,BAA83059,AAC28132,AAH37317,Q9UPP5 Hs.21554 protein-coding 1344341 KIAA1109 KIAA1109 737633 17999365,17558408,16545529,16386706,14702039,12477932,10718198,10470851,9373149,8125298 737633 84162 NM_015312,AC022489,AC104658,AC127089,AB029032,AB037792,AK024043,AK025057,AK095216,AK129931,AK225886,AL137254,AL137384,AL137532,AL833461,BC018094,BC032408,BC045783,BC108274,CR621256,CR936613,DQ335469,AK124902,AK127686,AK127698 NP_056127,AAY41044,BAA83061,BAA92609,BAB15057,CAB70656,CAB70718,CAB70795,AAH18094,AAH45783,AAI08275,CAI56756,ABC59821,Q2LD37,BAC85988,BAC87084 Hs.408142 GDB:9955941 DKFZp781P0474|FSA|MGC110967 protein-coding 1312172 KIAA1128 KIAA1128 737633 14702039,12477932,10574461,8619474 737633 54462 NM_018999,AC074321,AL356115,CH471142,AB032954,AF241785,AK024324,AK098675,BC020910,BC030528,BU599757,BX640691,U90912 NP_061872,CAI40902,EAW80349,EAW80350,EAW80351,EAW80352,BAA86442,AAG44473,BAB14884,AAH30528,CAE45815,Q6N055,Q9H7U1 Hs.461988 FLJ14262|FLJ25809|Gcap14|bA486O22.1 protein-coding 1606528 KIAA1143 KIAA1143 17081983,15489334,12477932,10574461 57456 NM_020696,AC098649,CH471055,CS300590,AB032969,AK289549,BC008468,BC016790,BC070360 NP_065747,EAW64722,EAW64723,CAK32254,BAA86457,BAF82238,AAH08468,AAH16790,Q96AT1 Hs.476082 protein-coding 1603618 KIAA1147 KIAA1147 12477932,10574461 57189 AB032973,AF116707,AF136629,BC012493,NM_001080392,AC004918,CH236950,CH471070 EAW83974,BAA86461,AAF71127,AAH12493,A4D1U4,Q9P1C9,AAI56554,NP_001073861,EAL24019 Hs.521240 LCHN|PRO2561 protein-coding 1320364 KIAA1161 KIAA1161 12477932,10574461 57462 NM_020702,AL356494,CH471071,AB032987,BC070098,BC110493,CB988183 NP_065753,CAI15965,CAI15966,EAW58460,BAA86475,AAH70098,AAI10494,Q6NSJ0 Hs.522083 protein-coding 1349237 KIAA1166 KIAA1166 16189514,15772651,15489334,14702039,12477932,12097419,10574461,9373149,8125298 55906 NM_018684,AL355606,CH471132,AB032992,AF270491,AK001547,AK022807,AK022918,AK123763,AK222708,BC004411,CR614211 NP_061154,CAI41368,CAI41369,EAX05408,EAX05409,BAA86480,AAF75787,BAB14252,BAB14308,BAD96428,AAH04411,Q53H73,Q9NQZ6 Hs.28249 HCA127 protein-coding 1601743 KIAA1191 KIAA1191 12477932,10574461,10565538,9373149,8125298 57179 NM_001079685,NM_001079684,NM_020444,AC138956,CH471195,AB033017,AL390217,AL567350,AL832558,BC006316,BC010448,BC012848,BC017097,BX648859,CR457331,CR614367 NP_001073153,NP_001073152,NP_065177,EAW85087,EAW85088,EAW85089,EAW85090,EAW85091,EAW85092,EAW85093,EAW85094,EAW85095,BAA86505,CAB99231,AAH06316,AAH10448,AAH12848,AAH17097,CAH56134,CAG33612,Q96A73,EAW85096 Hs.709383 FLJ21022 protein-coding 1313176 KIAA1199 KIAA1199 16406369,16157444,15489334,14577002,12477932,12471561,12421765,11247670,10574462 57214 NM_018689,AC023302,AC027808,CH471136,AB033025,AB103330,AK000465,AK026540,AK027058,AL049389,AL109718,AL359061,AY007811,BC020256 NP_061159,EAW99111,BAA86513,BAD02451,CAB94391,AAG41059,AAH20256,Q6L9J5,Q8WUJ3 Hs.459088 TMEM2L protein-coding 1352431 KIAA1217 KIAA1217 737633 16189514,14702039,12477932,10574462 737633 56243 NM_019590,NM_001098501,AC063961,AL157781,AL353583,AL353650,AL355977,AL356113,NM_001098500,AL356477,AL391499,AL392104,CH471072,AB033043,AB291616,AK021984,AK024199,AK055179,AK091142,AK096446,AK125675,AL157473,AL833280,BC017424,BC018764,BC098577,BX640796,BX648451 NP_001091970,NP_062536,NP_001091971,CAI12211,CAI12212,CAI12213,CAI12214,CAI12216,CAI14084,CAI14085,CAI14086,CAI14087,CAI40179,CAI40182,CAI40183,CAO03477,CAO03478,CAO03479,EAW86123,EAW86124,EAW86125,BAA86531,BAF63529,BAC86241,CAB75668,AAH18764,AAH98577,CAE45879,Q5T5P0,Q5T5P1,Q5T5P2,Q5T7H5 Hs.445885 DKFZP761L0424|MGC31990|RP11-324E23.1|SKT protein-coding 1603624 KIAA1219 KIAA1219 16490346,15489334,15302935,14702039,12477932,12168954,10574462,11780052 57148 NM_020336,AL035419,AL049868,CH471077,AB033045,AK026771,AK123576,AK125260,AK125916,AL132998,AL834436,BC010916,BC018668,BC036425,BC047482,BX641080,CR936800 NP_065069,CAM27455,CAM27456,CAM27457,CAI23368,CAM28344,CAM28345,EAW76018,EAW76019,EAW76020,EAW76021,EAW76022,EAW76023,EAW76024,BAA86533,BAC85649,CAB61346,CAD39096,AAH10916,AAH18668,AAH47482,CAE46039,Q5TFG1,Q5TG29,Q6MZJ2,Q86X10 Hs.655758 DKFZp686N19168|DKFZp781M2411|FLJ43270|FLJ43928|RP5-1100H13.1|dJ1100H13.1 protein-coding 1603203 KIAA1239 KIAA1239 10574462,9847074 57495 XM_049078,XM_001713967,XM_940885,AC022463,AC104690,AC107400,AB033065 XP_049078,XP_001714019,XP_945978,BAA86553,Q9ULI1 Hs.4280 protein-coding 1320499 KIAA1244 KIAA1244 14702039,12477932,10737800,10574462 57221 NM_020340,AL031003,AL391240,CH471051,AB033070,AF413080,AK000682,AK021955,AK124312,AW300603,BC014227,BC033191,BF332780,BF744369,BF943924,BX640863,DT932721 NP_065073,CAM28244,CAM28242,EAW47918,BAA86558,AAL04174,AAH14227,AAH33191,CAE45924,Q5TH69,Q5THM9,Q6MZV3 Hs.656215 C6orf192|C6orf92|RP3-422G23.4|big3|dJ171N11.1|dJ55C23.6 protein-coding 1604742 KIAA1245 KIAA1245 12477932,11948409,10574462,9110174,8619474 149013 AB033071,AF379633,AF379636,BG154169 BAA86559,AAO15401,AAO15402,Q8IX73,Q8IX74 Hs.515947,Hs.534675 COAS1 protein-coding 1603021 KIAA1257 KIAA1257 16344560,14702039,12477932,10574462 57501 NM_020741,AC112484,AB033083,AK056377,BC031632,BC038736,DB086263,DB095211 NP_065792,BAA86571,AAH31632,AAH38736,Q9ULG3 Hs.518247 protein-coding 1605247 KIAA1267 KIAA1267 16189514,11256614,16381901,15489336,15489334,15302935,14702039,12477932,11641718,11230166,11076863,10574462 284058 NM_015443,NG_007398,AC004139,AC005829,CH471233,AB033093,AK094946,AK291259,AL117476,AL137317,BC035892,BC098376,BX538006,BX648760 NP_056258,EAW93576,EAW93577,BAA86581,BAF83948,CAB55949,CAB70694,AAH35892,AAH98376,CAD97958,CAH10565,Q0JSF2,Q0JUW9,Q7Z3B3,CAL37692,CAL38562 Hs.648744 DKFZP727C091|DKFZp686P06109|MGC102843 protein-coding 1346451 KIAA1274 KIAA1274 15146197,14702039,12477932,10574462 27143 NM_014431,AC022532,AL355344,CH471083,AB033100,AK021806,BC015004,BC040163,BC048195,BC136376,CN335744 NP_055246,CAI41274,CAI41275,EAW54404,EAW54405,EAW54406,BAA86588,AAI36377,Q9ULE6 Hs.202351 PALD protein-coding 1317800 KIAA1279 KIAA1279 16189514,17353931,16713569,16225668,15883926,15489334,15164054,12477932,10574462 26128 NM_015634,AL359844,CH471083,AA913814,AB033105,AK291343,AL050190,BC006427,BC012180,CR593211 NP_056449,CAH72378,EAW54308,BAA86593,BAF84032,CAB43311,AAH12180,Q96EK5 Hs.279580 DKFZP586B0923|KBP|TTC20 protein-coding 1603019 KIAA1303 raptor 1625616 15755954,15809305,18439900,17656678,17329400,17081983,16964243,16959881,16914728,16354680,16183647,15489334,15302935,15066126,14702039,12718876,12604610,12477932,12150926,12150925,10718198,15467718,15268862,15854902,15718470 1625616 57521 NM_020761,AC016245,AC109327,AC127496,AC133012,CH471099,AB037724,AB082951,AI821182,AK055912,AY090663,BC014502,BC025180,BC033258,BC033699,BC041079,BC064515,BC073898,BC136654,BF111734 NP_065812,EAW89618,EAW89619,BAA92541,BAC06490,AAM09075,AAH14502,AAH25180,AAH33258,AAH64515,AAH73898,AAI36655,Q6DKI0,Q8N122,Q96C97 Hs.133044 protein-coding 1345252 KIAA1305 KIAA1305 1580863 14702039,12477932,10718198 57523 NM_025081,AL132800,AB037726,AK021873,BC008219,BC065283,BX248773,CR596800 NP_079357,BAA92543,BAB13925,AAH08219,AAH65283,CAD66580,Q96HR4,Q9P2P1 Hs.288348 FLJ11811 protein-coding 1606254 KIAA1324 KIAA1324 16322283,14702039,12975309,12477932,10718198 57535 AL138933,AL356389,CH471122,AB037745,AI923722,AJ512825,AJ512826,AK026832,AK057647,AK122934,AY358366,BC031648,NM_020775,BC125208,CB142078,CD108482 NP_065826,CAI22280,CAI13596,CAI13597,CAI13598,EAW56359,EAW56360,EAW56361,EAW56362,EAW56363,BAA92562,CAD55147,CAD55148,AAQ88732,AAI25209,Q6UXG2,Q70WY4 Hs.708190 EIG121|MGC150624|RP11-352P4.1 protein-coding 1603535 KIAA1324L KIAA1324-like 14702039,12690205,12477932 222223 NM_152748,AC000122,AC002081,AC004519,CH236949,CH471091,AI797353,AK055902,BC117309 NP_689961,EAL24181,EAW76969,BAB71041,AAI17310,A8MWY0 Hs.208093 FLJ31340 protein-coding 1343837 KIAA1328 KIAA1328 16381901,15656913,15489336,12477932,11230166,11076863,10718198 57536 AL832625,BC008670,BC037903,BC045585,BX648875,NM_020776,AC009854,AC015961,AC016493,AC023577,CH471088,AB037749,AK292288 CAD89947,AAH08670,AAH37903,Q86T90,CAL37981,CAL38258,NP_065827,EAX01387,BAA92566,BAF84977,AAI46692 Hs.4045 protein-coding 1321062 KIAA1333 KIAA1333 1580863 17239372,16189514,15489334,14702039,14667819,12477932,11483598,10718198,9373149,8125298 55632 AK000340,AK022867,AK093536,AK225346,BC000973,BC008436,BC040179,CR612214,NM_017769,AL117355,CH471078,AB037754 BAA92571,BAA91095,BAB14280,AAH00973,AAH40179,Q49AD9,Q7L622,NP_060239,EAW65969 Hs.509008 FLJ20333|G2E3 protein-coding 1606264 KIAA1370 KIAA1370 16344560,14702039,12477932,10718198 56204 AC009754,AC025917,CH471082,NM_019600,AB037791,AK001842,AK292917,AL832519,BC040548,BC058839,BC073908,BC083498,BC109127,BC109128,DB227522 NP_062546,EAW77457,EAW77458,EAW77459,EAW77460,BAA92608,BAA91936,BAF85606,CAH56350,AAH40548,AAH58839,AAH73908,AAH83498,AAI09128,AAI09129,Q32MH5,Q658Z0,Q6DKH7 Hs.152385 FLJ10980|MGC126494|MGC126495 protein-coding 1606251 KIAA1377 KIAA1377 12812986,15383276,16169070,15489334,14702039,12477932,12107411,10718198,8889548 57562 AB037798,AK057230,AK095004,AL045516,BC036525,BC146807,BM690026,BQ267650,BQ637903,BU785174,BX647415,CA848462,DB455438,NM_020802,AP003383,CH471065 BAA92615,Q9P2H0,NP_065853,EAW67007,EAW67008 Hs.156352 protein-coding 1607026 KIAA1383 KIAA1383 17081983,16710414,15489334,12477932,10718198 54627 NM_019090,AL451083,CH471098,AB037804,BC036663,BC109122 NP_061963,CAH72001,EAW69975,BAA92621,AAH36663,AAI09123,Q9P2G4 Hs.160373 MGC126467 protein-coding 1350923 KIAA1407 KIAA1407 10718198 57577 NM_020817,AC092896,AC128687,CH471052,AB037828,AF509494,AK125304 NP_065868,EAW79615,BAA92645,AAM34297,Q8NCU4 Hs.477159 FLJ43314 protein-coding 1322833 KIAA1409 KIAA1409 14702039,10718198,17353931 57578 NM_020818,AL122023,AL136338,AL157858,CH471061,AB037830,AK090721,AK125327,AK126626,BX649040 NP_065869,EAW81531,BAA92647,BAC86131,Q9P2D8 Hs.126561 FLJ43337 protein-coding 1603673 KIAA1429 KIAA1429 15302935,15009096,14702039,12477932,10718198 25962 NM_183009,AC023632,CH471060,AB037850,AF116724,NM_015496,AK000668,AK022906,AL117434,AL832487,BC003701,BC053875,BC069239,BC112288,BC113380,BM462567,CD108987,CR620832,CR627454 NP_056311,NP_892121,EAW91715,EAW91716,EAW91717,BAA92667,AAO15300,BAA91316,BAB14301,CAB55922,CAH10773,AAH03701,AAH53875,AAH69239,AAI12289,AAI13381,CAH10535,Q69YN4 Hs.202238 DKFZP434I116|DKFZp781B2117|MGC138493|MGC141940|MSTP054 protein-coding 1316452 KIAA1430 KIAA1430 737633 14702039,12477932,10718198 737633 57587 NM_020827,AC073344,AC093592,CH471056,AB037851,AK024878,AK091993,AK130263,AL133615,AV709118,BC020772,BC030535 NP_065878,AAY40976,EAX04653,EAX04654,BAA92668,CAB63743,AAH20772,AAH30535,Q9P2B7 Hs.535734 DKFZp434F1728|FLJ21225 protein-coding 1320674 KIAA1432 KIAA1432 16112082,14702039,12477932,11230166,10718198 57589 NM_020829,AL136980,AL354744,CH471071,AB037853,AB205401,AK022642,AK074150,AK124394,AL136875,BC023535,BC030576,BC041044,BC136616 NP_065880,CAI95003,CAI95004,EAW58759,EAW58760,EAW58761,BAA92670,BAE16982,BAB14150,BAB84976,CAB66809,AAH30576,AAI36617,Q4ADV7 Hs.211520 CIP150|FLJ12580|bA207C16.1 protein-coding 1346091 KIAA1462 KIAA1462 737633 14702039,12477932,10819331 737633 57608 NM_020848,AL158036,AL360172,CH471072,AB040895,AK055602,AK074200,AL050154,AL583916,BC047548,BC071601,BC153865,BX648192,BX648263,BX648773,CR626438 NP_065899,CAI17240,EAW86016,EAW86017,BAA95986,CAC29500,AAH47548,CAI46027,Q9P266 Hs.533953 protein-coding 1605976 KIAA1467 KIAA1467 12477932,10819331 57613 AL832902,NM_020853,AC023790,CH471094,AB040900,AK125278,BC030126,BC039267,BC132772,BC132774,CD172292,CR936647 NP_065904,EAW96298,BAA95991,BAC86111,CAH10631,AAH39267,AAI32773,AAI32775,CAI56785,A2RU67,Q69YM1 Hs.132660 DKFZp781O012 protein-coding 1316306 KIAA1468 KIAA1468 737633,1580863 14702039,12477932,11973628,10819331 737633 57614 NM_020854,AC027514,AC090396,CH471096,AA632129,AB040901,AK025228,AK091160,BC011992,BX648481 NP_065905,EAW63120,EAW63121,EAW63122,EAW63123,BAA95992,AAH11992,Q96ES0,Q9P260 Hs.465323 FLJ33841|HsT3308|HsT885 protein-coding 1316621 KIAA1509 KIAA1509 57641 1602871 KIAA1522 KIAA1522 12477932,10819331 57648 NM_020888,AC114489,CH471059,AB040955,AI587184,AL713671,AL833933,BC004879,BC020306 NP_065939,EAX07509,EAX07510,BAA96046,CAD28477,Q9P206,AAI56343 Hs.591502 protein-coding 1343416 KIAA1524 KIAA1524 1580863 17632056,16381901,15489336,14702039,12477932,12118381,11256614,11230166,11076863,10819331 57650 NM_020890,AC069499,AC092693,CH471052,AB040957,AF334474,AK022912,AK056933,AL713689,BC017659,BC063433,BC082961,BC130564 NP_065941,EAW79723,EAW79724,BAA96048,AAL11632,BAB14305,CAD28489,AAH17659,AAH63433,AAI30565,Q0JTN4,Q8TCG1,CAL38128 Hs.591308 FLJ12850|MGC163436|p90 protein-coding 1343699 KIAA1529 KIAA1529 737633 14702039,12477932,10819331 737633 57653 BC047097,BC112930,CR627453,CR749320,NM_020893,AL512590,AL590705,CH471105,AB040962,AK123391,AL137557 AAH47097,AAI12931,CAH10534,CAH18175,Q86Y65,Q9P1Z9,NP_065944,CAH71602,CAH71603,EAW58840,EAW58841,BAA96053,CAH10701 Hs.435629 DKFZp434I2420|DKFZp686G1725|MGC131724|RP11-23J9.1 protein-coding 1605974 KIAA1530 KIAA1530 12477932,10819331 57654 AL110229,BC110331,NM_020894,AC078852,AC118281,CH471131,AB040963,AK292661,AL390128,BC021930 NP_065945,EAW82584,BAA96054,BAF85350,CAH10662,AAH21930,AAI10332,Q2YD98,Q69YU2 Hs.380475 MGC117169 protein-coding 1322605 KIAA1539 KIAA1539 737633 11256614,16381901,16189514,15489336,14702039,12477932,11230166,11076863,10819331 737633 80256 AC004472,AL353795,CH471071,AB040972,AK021622,AK022837,AL583909,BC004406,NM_025182,CR590745,CR601417,CR619048 NP_079458,AAC07982,EAW58386,EAW58387,EAW58388,EAW58389,EAW58390,EAW58391,EAW58392,EAW58393,BAA96063,BAB13857,CAC29493,AAH04406,Q5VYM4,Q5VYM5,Q7L5A3,CAL37915 Hs.301696 FLJ11560|P1.11659_5|RP11-182N22.6|bA182N22.6 protein-coding 1605972 KIAA1542 CTD-binding SR-like protein rA9 15489334,18204446,17081983,15302935,12477932,10997877,10819331 57661 NM_020901,AP006284,CH471158,AB040975,BC004950,BC013381,BC029651,BC041631,BC112931,BC146771 NP_065952,EAX02353,EAX02354,BAA96066,AAH04950,AAH13381,AAH29651,AAH41631,AAI46772,Q9P1Y6 Hs.325838 protein-coding 1316325 KIAA1543 KIAA1543 16964243,15489334,15302935,12477932,11318610,10819331,8889548 57662 NM_001080429,NM_020902,AC008763,CH471139,AB040976,AF289580,AL833927,BC020431,BC035808,BC036935,BC064490,BC128201,BC128202,BU733578 NP_001073898,NP_065953,EAW69025,EAW69028,BAA96067,AAL55764,CAD38783,AAI28202,AAI28203,Q8WZ12,Q9P1Y5 Hs.17686 protein-coding 2292705 KIAA1549 KIAA1549 14702039,12477932,10997877,12421765 57670 AK021793,AK096022,AL136736,BC038232,BC069036,BC091523,CR533444,NM_020910,AC018663,AC083868,AC093144,CH236950,AB046769 CAB66670,AAH38232,AAH91523,CAG38475,Q5BJD6,Q6FII2,Q8IY15,Q9H0M3,Q9HCM3,NP_065961,BAB13375 Hs.605380 FLJ11731|FLJ38703|FLJ40644 protein-coding 1347685 KIAA1553 KIAA1553 10997877 57673 NM_001080450,AL355586,AB046773,AK026996,BC131628 NP_001073919,CAI16110,BAB13379,AAI31629,Q5T5X7 Hs.418045 RP11-59I9.2 protein-coding 1605968 KIAA1576 KIAA1576 protein 15489334,14702039,12477932,10997877 57687 AK001256,NM_020927,AC010650,AC092134,CH471114,AB046796,AK290153,AL834240,BC033537 NP_065978,EAW95594,BAB13402,BAF82842,CAD38917,AAH33537,Q8NDE0,Q9HCJ6 Hs.461405 protein-coding 1343071 KIAA1586 KIAA1586 12477932,10997877 57691 NM_020931,AL450489,AB046806,AK290988,BC012011,BC029372,BC041125 NP_065982,CAH71219,BAB13412,BAF83677,AAH29372,AAH41125,Q8N303 Hs.485628 FLJ30162 protein-coding 1347565 KIAA1598 KIAA1598 737633 17030985,16344560,14702039,12477932,12421765,10997877 737633 57698 NM_018330,AK001984,AK091381,AK091410,AK091578,AK095419,AK095703,AK095709,AL157479,BC022348,BC032303,BX537593,BX648065,CR625515,CR749417,CX783645,DA241212,DN993119,NM_001127211,AC023283,CH471066,AB046818,EF055487,H17869 NP_060800,BAA92019,AAH22348,AAH32303,CAH18259,NP_001120683,EAW49434,EAW49435,EAW49436,EAW49437,EAW49438,BAB13424,ABK56022,A0MZ66 Hs.501140 DKFZp686A0439|MGC40476|shootin-1|shootin1 protein-coding 1314542 KIAA1600 KIAA1600 737633 12477932,10997877 737633 57700 NM_020940,AL137025,AB046820,AL833226,BC037207,CR933692 NP_065991,CAH69998,CAH69999,CAH70000,CAH70001,BAB13426,AAH37207,CAI45992,Q5W0V3,Q5W0V4 Hs.192619 DKFZp686D10123|RP11-106M7.3|bA106M7.3 protein-coding 1605652 KIAA1602 KIAA1602 15146197,12477932,10997877 57701 NM_020941,AC131157,AB046822,AF370366,BC007998,BC020433,BC033253,CN359941,CN359946,CR611780 NP_065992,BAB13428,AAQ15202,AAH07998,AAH33253,Q9HCH0 Hs.143067 FP1193 protein-coding 1605651 KIAA1604 KIAA1604 protein 11991638,15231747,14702039,12477932,10997877 57703 NM_020943,AC068194,AC096587,CH471058,AB046824,AK025635,AK026978,AK123647,BC016651,BC031216,BC041662,BC053573,BC057826,BC093952,BC093954,BF699499 NP_065994,EAX10996,EAX10997,EAX10998,BAB13430,BAB15197,BAB15612,AAH16651,AAH31216,AAH53573,AAH57826,AAH93952,AAH93954,Q9HCG8 Hs.311363 protein-coding 1605650 KIAA1609 KIAA1609 16189514,14702039,12477932,10997877,8889549,8889548 57707 NM_020947,AC022165,CH471114,AA115393,AB046829,AK021995,AK291237,AL137316,AV718305,BC023251,BC060844,BG748167,BI767086,BM674034,BM676714,BM715013,BM715579,BM922004,BQ009692,BU955954,CB160601,CR614446 NP_065998,EAW95478,EAW95479,EAW95480,BAB13435,BAF83926,CAB70693,AAH23251,AAH60844,Q6P9B6 Hs.288274 MGC25024 protein-coding 1605647 KIAA1614 KIAA1614 16344560,14702039,12805274,11181995,10997877 57710 NM_020950,AL162431,AY270920,CH471067,AB046834,AK055739,AK090668,DA410555,DA807788 NP_066001,EAW91089,EAW91090,BAB13440,Q5VZ46 Hs.647760 RP11-46A10.3 protein-coding 1351264 KIAA1618 KIAA1618 12477932,12112524,10997877,15489334,14702039 57714 NM_020954,AC123764,AC124319,CH471099,AB046838,AF397204,AF397205,AK023113,AL832920,BC035987,BC036891,BC040341 NP_066005,EAW89593,EAW89594,BAB13444,AAN63520,AAN63521,BAB14411,CAH10615,AAH36891,AAH40341,Q9H932,Q9HCF4 Hs.514554 protein-coding 1344077 KIAA1622 KIAA1622 The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The function of this particular gene product has not been determined. Alternative splicing has been observed for this gene and two transcript variants encoding distinct isoforms have been identified. 15014966,12477932,11491282,10997877,9989501 57718 NM_058237,NM_020958,AL117259,AL121838,CH471061,AB046842,BC002650,BC068491,BI546744 NP_478144,NP_066009,EAW81561,EAW81562,EAW81563,BAB13448,AAH02650,AAH68491,Q6NUP7 Hs.259599 protein-coding 1605646 KIAA1627 KIAA1627 protein 14702039,12477932,10997877 57721 NM_020961,AC110079,CH471229,AB046847,AK055555,BC006565,BC007449,CR614338 NP_066012,EAW73651,EAW73652,BAB13453,BAB70954,AAH06565,AAH07449,Q9HCE5 Hs.657806 protein-coding 1347008 KIAA1632 KIAA1632 737633 17549423,16344560,15722956,14702039,12477932,10997877,8889548 737633 57724 NM_020964,AC087685,AC090355,CH471088,AB046852,AK023817,AK094080,AL583915,BC003695,BC036911,BC130614,BM680107,DB065073,DB235183 NP_066015,EAX01465,BAB13458,BAB14689,CAC29499,AAH03695,AAH36911,AAI30615,Q8N401,Q9BTI0,Q9BYJ3,Q9HCE0 Hs.514843 DKFZp667P2311|HEEW1 protein-coding 1353790 KIAA1683 KIAA1683 11256614,16381901,16189514,15489336,15489334,15302935,14702039,12477932,11230166,11214970,11076863 80726 NM_025249,AC008397,CH471106,AB051470,AK057466,AK093064,AK095765,AK095771,AL136867,BC034327,BC112932,BC127099,BC127100 NP_079525,EAW84681,BAB21774,BAB71500,CAB66801,AAH34327,AAI12933,AAI27100,AAI27101,Q0JVM7,Q2KHR5,Q9H0B3,CAL37433 Hs.313471 MGC131731 protein-coding 1606778 KIAA1688 KIAA1688 protein 14702039,12477932,11214970,15302935 80728 NM_025251,AC084125,CH471162,AB051475,AK092501,BC013071 NP_079527,EAW82062,BAB21779,AAH13071,Q6PJQ0,Q9C0H5 Hs.148988 protein-coding 1316340 KIAA1704 KIAA1704 12477932,11214970 55425 NM_018559,AL359706,CH471075,AB051491,AF145122,AF245045,AJ420573,AK292493,BC017776,BC032333,BC039586 NP_061029,CAI12866,CAI12868,EAX08720,EAX08721,EAX08722,EAX08723,BAB21795,AAF70548,AAG44482,BAF85182,AAH17776,AAH32333,AAH39586,Q8IXQ4 Hs.507922 AD029|LSR7|RP11-245H20.2|bA245H20.2 protein-coding 1318333 KIAA1712 KIAA1712 737633 16344560,14702039,12477932,11214970,16189514 737633 80817 NM_001040157,AC097653,AC116616,CH471056,AB051499,AK094961,AK292484,AY426674,BC038667,BC045590,DB211405 NP_001035247,EAX04738,EAX04739,EAX04740,BAB21803,BAF85173,AAR88428,AAH38667,Q9C0F1 Hs.555989 PS1TP3 protein-coding 1323819 KIAA1715 KIAA1715 17353931,17081983,15489334,14702039,12732147,12477932,11214970 80856 NM_030650,AC016751,AC016915,CH471058,AB051502,AK056532,AK096916,AL832947,BC031530,BC064661,BC105132,BC105134,BC110329,BG702450,CR936742 NP_085153,EAX11098,EAX11099,BAB21806,BAB71207,CAH56306,AAH31530,AAI05133,AAI05135,AAI10330,Q9C0E8 Hs.209561 DKFZp686G1442|LNP|MGC102862|Ul|ulnaless protein-coding 1602084 KIAA1731 KIAA1731 14702039,12477932,11214970,11181995 85459 NM_033395,AP001273,AP003499,CH471065,AA747565,AB051518,AK057804,AK095218,AK095859,AK098232,BC015989,BC017394,DW414641 NP_203753,EAW66906,EAW66907,EAW66908,EAW66909,EAW66910,BAB21822,BAB71582,BAC04502,BAC04638,BAC05264,Q9C0D2 Hs.458418 FLJ40913 protein-coding 1319859 KIAA1737 KIAA1737 15489334,14702039,12477932,11214970 85457 NM_033426,AC007375,AC007686,CH471061,AB051524,AK024737,AK096603,AL834514,BC037300,BI546511 NP_219494,EAW81269,EAW81270,BAB21828,CAD39170,AAH37300,Q9C0C6 Hs.22452 protein-coding 1604563 KIAA1751 KIAA1751 11214970 85452 NM_001080484,AL109917,AL391845,BC139754,AB051538,AK127388 NP_001073953,CAI95650,CAI15433,CAI15434,CAI15435,BAC86954,AAI39755,Q5T2D8,Q9C0B2,BAB21842 Hs.232092 FLJ45476|RP1-140A9.6 protein-coding 1344498 KIAA1754 KIAA1754 737633 16990268,14702039,12975309,12477932,11214970 737633 85450 NM_033397,AL162742,CH471066,AB051541,AK055608,AK056526,AK094802,AY189283,AY358776,BC040536,BC070108 NP_203755,CAI12108,CAI12109,EAW49596,EAW49597,BAB21845,BAB71204,AAO86727,AAQ89136,AAH40536,AAH70108,Q6Y2K9,Q8IWB1 Hs.523252 DANGER|RP11-127L20.4|bA127L20|bA127L20.2 protein-coding 1603562 KIAA1754L KIAA1754-like 16713569,15146197,12477932 150771 NM_001008949,NM_178495,AC021188,AI286121,BC034503,BC073153,BI829328,CN282838 NP_001008949,NP_848590,AAH34503,AAH73153,Q6GPH6 Hs.65009 protein-coding 2289756 KIAA1755 KIAA1755 14702039,12477932,11214970 85449 NM_001029864,AL031651,CH471077,AB051542,AK096202,BC029137 NP_001025035,CAI19006,CAI19007,EAW76037,EAW76038,EAW76039,BAB21846,Q5JYT5,Q5JYT7 Hs.472690 RP5-1054A22.3 protein-coding 1351643 KIAA1772 KIAA1772 11214970 80000 Q9H8F1 NM_024935,AK023749 1601733 KIAA1787 KIAA1787 protein The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants. 17353931,12477932,11347906 84461 NM_032442,NM_001005408,AC026954,AB058690,AL136870,AL833570,BC007227,BC073134 NP_115818,NP_001005408,BAB47416,CAB66804,AAH07227,AAH73134,Q96JN8 Hs.654794 protein-coding 1352316 KIAA1797 KIAA1797 16344560,14702039,12477932,11347906,9373149 54914 NM_017794,AL354879,AL392163,AL445624,AL662879,CH471071,CQ834730,AB058700,AK000382,AK055116,AK056522,AK172818,AK225483,AL512738,AY139834,BC001246,CR607345,CR608016,CR623397,DB288580 NP_060264,EAW58627,EAW58628,EAW58629,CAH05580,BAB47426,BAA91129,BAB71203,BAD18787,AAN17740,AAH01246,Q5VW36 Hs.408652 FLJ20375 protein-coding 1601734 KIAA1804 mixed lineage kinase 4 16710414,11347906 84451 NM_032435,AL133380,CH471098,AB058707,AJ311797,AJ311798,BC136649 NP_115811,CAI23045,CAI23046,CAI23047,EAW69987,EAW69988,BAB47433,CAC84639,CAC84640,AAI36650,Q5TCX8 Hs.547779 MLK4|RP5-862P8.2|dJ862P8.3 protein-coding 1603604 KIAA1826 KIAA1826 11256614,16381901,15489336,14702039,12477932,11347906,11230166,11076863 84437 NM_032424,AP000813,CH471065,AB058729,AF253976,AI399910,AK027790,AK293050,AL834523,BC041118,CR610578,CR614328 NP_115800,EAW67071,BAB47455,AAG44625,BAB55371,BAF85739,CAD39179,AAH41118,Q8NCY6,CAL38238 Hs.266782 protein-coding 1604598 KIAA1840 KIAA1840 14702039,12477932,11347906,9373149,8206979 80208 Q4VC11,Q69YG6,Q6NW01,Q86X21,Q8N270,Q8N9K0,Q8TBU9,Q96JI7,Q9H734 AC009996,CH471082,AB058743,AK025092,AK057869,AK074456,AK091176,AK094331,AK225186,AL834168,BC024161,NM_025137,BC047416,BC067798,BC094704,CR594450 NP_079413,EAW77272,EAW77273,BAB47469,BAB15065,BAC03600,BAC04333,CAH10686,Q8TBU9,Q96JI7,Q9H734,AAH24161,AAH67798,AAH94704,Q4VC11,Q69YG6,Q6NW01,Q86X21,Q8N270,Q8N9K0 Hs.656271,Hs.683876 DKFZp762B1512|FLJ21439 protein-coding 1606998 KIAA1841 KIAA1841 12477932,11347906 84542 NM_032506,AC016747,CH471053,AB058744,AK131267,AL833595,BC039298,BC070104,BX647395,CR590445 NP_115895,EAX00013,EAX00014,EAX00015,EAX00016,BAB47470,BAD18445,AAH39298,AAH70104,Q6NSI8 Hs.468653 MGC39557 protein-coding 1603376 KIAA1853 KIAA1853 14702039,12800201,12477932,11347906 84530 AK055717,AK125400,AK291361,AY130006,BC152471,BC167162,BC167163,H10301,NM_194286,AC084361,AC087885,CH471054,AB058756 BAB47482,BAC86156,BAF84050,AAN05090,AAI52472,AAI67162,AAI67163,NP_919262,EAW98142,Q6ZUR3,A7MD48 Hs.112577 MGC176729|MU-MB-2.76 protein-coding 1601920 KIAA1875 KIAA1875 14702039,11347906 340390 XM_001717214,XM_001714043,XM_001714978,XM_001714583,XM_001714972,XM_001714586,AC104592,AB058778,AI567202,AK095597,AK124611,AL137446,BI757563 XP_001717266,XP_001714095,XP_001715030,XP_001714635,XP_001715024,XP_001714638,BAB47504,BAC85899,CAB70740,Q6ZVG2,Q9NTA2 Hs.98723 miscrna 1347657 KIAA1881 KIAA1881 12840023,12477932,11572484 729359 NM_001080400,AC011498,AB067468,BC153818 NP_001073869,BAB67774,AAI53819,Q96Q06 Hs.591387 S3-12 protein-coding 1321427 KIAA1919 KIAA1919 16344560,14702039,12590146,12477932,11572484 91749 CH471051,AB067506,AF161363,AI096577,AI151460,AK093136,AK292735,BC036115,BG697347,CR619381,DB024559,DB027926,DB202540,AL080317,NM_153369 CAI19190,EAW48296,BAB67812,AAF28923,BAF85424,AAH36115,Q5TF39,NP_699200 Hs.400572 MGC33953|NaGLT1 protein-coding 1605891 KIAA1920 KIAA1920 protein 11572484 114817 NG_006511,AC136704,AB067507 BAB67813,Q96PW8 Hs.513096 pseudo 1354368 KIAA1946 KIAA1946 737633 14702039,12477932,11853319 737633 165215 NM_177454,AC017101,CH471058,AB075826,AF361495,AK091423,AK094578,AK095604,AK289737,AL834264,BC036478,BC060872 NP_803237,AAY24258,EAX10930,EAX10931,EAX10932,BAB85532,AAL57220,BAC03660,BAC04380,BAC04586,BAF82426,CAD38939,AAH60872,Q6P995 Hs.28872 FLJ34104 protein-coding 1319936 KIAA1949 KIAA1949 Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM] 737633 17374523,17081983,15489334,15302935,15221005,14702039,12477932,11853319 737633 170954 AL662797,AL662798,AL732442,AL845353,BX908728,CH471081,CR753328,CR759873,CR788240,CR936878,AB073600,AB075829,AK097089,AK124880,AK125639,AK126182,NM_133471,AL832318,AL832742,BC006176,BC023314,BC047721,BC066644,BX647622,CR604683,CR606220,CR614213,DQ988947 NP_597728,CAM25509,CAM25551,CAQ07426,EAX03318,EAX03319,CAQ07800,CAQ08685,CAQ07566,CAQ06808,BAD38640,BAB85535,BAC86229,BAC86478,CAD38613,AAH06176,AAH66644,CAI46080,ABL61261,Q6NYC8,Q6ZTV1 Hs.696054 HKMT1098 protein-coding 1322143 KIAA1958 KIAA1958 17081983,15489334,15302935,15164053,14702039,12477932,11853319 158405 NM_133465,AL162732,AL390067,AL445187,CH471105,AB075838,AK056181,AK096613,BC105048,BC113515 NP_597722,CAH71933,CAI16023,CAI16024,EAW59109,EAW59110,BAB85544,BAB71114,BAC04827,AAI05049,AAI13516,Q8N8K9 Hs.656619 FLJ39294|MGC142075 protein-coding 1605357 KIAA1967 KIAA1967 17314511,17353931,15824730,18235502,18235501,17473282,17081983,16381901,15489336,15489334,15345747,15302935,14743216,14702039,12477932,12370419,11853319,11230166,11076863 57805 NM_021174,AC037459,CH471080,AB075847,AF293335,AK022661,AK095712,AK096547,AL137523,AL834162,AL834351,AL834352,BC003172,BC018269,BC065495,BI561261,BX390251,BX640952,CR613641,NM_199205 NP_954675,NP_066997,EAW63658,EAW63659,EAW63660,EAW63661,EAW63662,BAB85553,AAG02472,BAB14163,BAC04814,CAB70788,CAD38866,CAD39016,CAD39017,AAH18269,AAH65495,CAE45976,Q0JS16,Q0JV76,Q8N163,CAL37584,CAL38698 Hs.654720 DBC-1|DBC1 protein-coding 1350546 KIAA1984 KIAA1984 737633 14702039,12477932,11853319 737633 84960 NM_001039374,AL355987,AK090683,AK092639,BC007542,BC064582,BC137317,BC137318,BF979345 NP_001034463,CAI12681,BAC03504,BAC03931,AAH07542,AAH64582,AAI37318,AAI37319,Q5T5R9,Q5T5S0,Q5T5S1,Q8NBE1,Q8WYT4,Q96IG8 Hs.370555 MGC15438|PARF|RP11-216L13.7|RP11-216L13.9|bA216L13.7 protein-coding 1602668 KIAA2013 KIAA2013 12477932 90231 NM_138346,AL021155,AL096840,CH471130,AB095933,AL833697,AL833891,BC004501,BC035033 NP_612355,CAI23397,CAI19081,CAI19082,EAW71720,EAW71721,EAW71722,EAW71723,BAC23109,CAD38747,AAH04501,AAH35033,Q8IYS2 Hs.520094 MGC33867|RP5-1077B9.1 protein-coding 1602969 KIAA2018 KIAA2018 205717 NM_001009899,AC055740,AC108693,AB095938,BC043383,BX537728,CR590163,CR749439 NP_001009899,BAC23114,CAD97821,CAH18277,Q68DE3 Hs.632570 DKFZp781O0144 protein-coding 1603497 KIAA2022 KIAA2022 15772651,15466006 340533 NM_001008537,AL139395,AL390035,CH471104,AB095942,AK128651,AY563507,BC038798,BC152557 NP_001008537,CAI39511,EAW98638,BAC23118,AAT67985,AAI52558,Q5QGS0 Hs.124128 RP11-130N24.1|bA130N24.1 protein-coding 1323134 KIAA2026 KIAA2026 16713569,14702039,12477932 158358 NM_001017969,AL162384,AL353606,AL365360,CH471071,AB095946,AL833370,BX648372,DY655479 NP_001017969,CAI95313,EAW58754,BAC23122,CAI45993,Q5HYC2 Hs.535060 protein-coding 732181 KIDINS220 kinase D-interacting substrate of 220 kDa 9069267,16284401,18089783,18048355,17079733,15378608,15167895,14971036,14702039,12477932,11150334,10998417,10574462 57498 AL137553,BC039409,BC094714,BC130610,BX538189,BX640878,CR617859,AB033076,AK022873,AK023926,AK025528,AK057125,AK074254,AL133620,NM_020738,AC012495,CH471053 CAB70807,AAH94714,AAI30611,CAD98059,CAE45935,Q7Z322,Q9ULH0,CAB63746,EAX01016,BAA86564,BAB14285,BAB14728,NP_065789,EAX01014,EAX01015 Hs.9873 ARMS|MGC163482 protein-coding 1346274 KIF11 kinesin family member 11 This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. 1580863 8548803,14718566,18037705,17999913,17971426,17827400,17293876,17251189,17101792,17062577,17014086,16969080,16642039,16604065,16565220,16434397,16115880,15858821,15665380,15489334,15247293,15164054,15024728,14517947,12477932,11416179,11328809,9701554,9235942,7776974,1505978,14527417 3832 AL356128,AL360222,CH471066,CS174237,AA857025,AB208964,BC050421,BC126211,BC136474,L40372,U37426,X85137,NM_004523 NP_004514,CAI13671,CAH72288,EAW50089,CAJ34547,BAD92201,AAI26212,AAI36475,AAC41739,AAA86132,CAA59449,P52732,Q59GZ5 Hs.8878 EG5|HKSP|KNSL1|TRIP5 protein-coding 1318282 KIF12 kinesin family member 12 KIF12 is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM] 1580863 15643526,15489334,15164053,12477932,9275178 113220 NM_138424,AL137850,CH471090,BC010626,BC036824,CR617868 NP_612433,CAI15900,CAI15901,EAW87405,EAW87406,EAW87407,EAW87408,EAW87409,EAW87410,AAH10626,Q5TBD6,Q96FN5 Hs.28149 RP11-56P10.3 protein-coding 1317245 KIF13A kinesin family member 13A 1580863 16964243,15231748,14574404,12477932,11861365,11374900,11106728,10777215,9373149,8889549,8125298 63971 NM_001105568,NM_001105567,NM_001105566,NM_022113,AL023807,AL138724,CH471087,AA037612,AJ291578,AJ291579,AK025303,AK130742,AK225214,AW296537,AY014403,AY014404,BC001730,BC023613,BC062673,BC127115,BC127116 NP_001099038,NP_001099037,NP_001099036,NP_071396,CAI21670,CAI21671,CAI40947,CAI40949,EAW55387,EAW55388,EAW55389,EAW55390,EAW55391,CAC20442,CAC20443,BAB15107,AAG38890,AAG38891,CAI40948,AAH62673,AAI27116,AAI27117,Q5JV47,Q6P5U1,Q9H1H9,Q9H6Z3 Hs.189915 GDB:11499585 FLJ27232|bA500C11.2 protein-coding 1349792 KIF13B kinesin family member 13B 1580863 10859302,12496241,17696365,16864656,16344560,12477932,9734811 23303 NM_015254,AC084262,AC103830,AC108449,CH471080,AB014539,AF279865,AI760125,AK000240,AK129580,AL583912,BC005977,BC014350,BC028056,BC051859,DA068190,DA437040 NP_056069,EAW63486,EAW63487,EAW63488,EAW63489,EAW63490,EAW63491,BAA31614,AAF81263,CAC29496,AAH05977,AAH28056,AAH51859,Q05C91,Q86V23,Q9NQT8 Hs.444767 GDB:11499586 GAKIN|KIAA0639 protein-coding 1321678 KIF14 kinesin family member 14 KIF14 is a member of the kinesin superfamily of microtubule-associated motors (see MIM 148760) that play important roles in intracellular transport and cell division (Nakagawa et al., 1997 [PubMed 9275178]).[supplied by OMIM] 1580863 17962437,17545527,17203973,17099872,17081983,16648480,16570270,16431929,15897902,12477932,9275178,7584044 9928 NM_014875,AL445483,CH471067,CQ971990,BC098582,BC113742,D26361 NP_055690,CAI17049,EAW91315,EAW91316,EAW91317,CAI40582,AAH98582,AAI13743,BAA05392,Q15058 Hs.3104 GDB:9784419 KIAA0042|MGC142302 protein-coding 1351410 KIF15 kinesin family member 15 1580863 10878014,16169070,14702039,12747765,12477932 56992 NM_020242,AC098649,CH471055,AB035898,AF308294,AK027816,AK098533,AL832908,BC117174 NP_064627,EAW64724,BAB03309,AAG48261,BAB55389,CAH10635,AAI17175,Q9NS87 Hs.658939 GDB:11506177 FLJ25667|HKLP2|KNSL7|NY-BR-62 kinesin-like 7 protein-coding 1320877 KIF16B kinesin family member 16B 17203973,16782399,16084724,15882625,15489334,14702039,12477932,12461558,11780052,10997877 55614 BC150261,BQ067573,BX647572,BX648426,AL049794,AL117376,AL118509,CH471133,AB046810,AK000142,AK026698,AK095322,AY044654,AY166853,BC015384,BC034984,BC050577,BC110317,NM_024704 AAI50262,CAI46105,CAI46266,Q2TBF5,Q96L93,NP_078980,CAI43180,CAI43181,CAI43063,CAM28305,EAX10287,EAX10288,EAX10289,EAX10290,BAB13416,BAA90971,BAB15530,AAK98768,AAO17292,AAH34984,AAH50577,AAI10318 Hs.101774 GDB:11504955 C20orf23|KISC20ORF|SNX23|c20orf23 chromosome 20 open reading frame 23 protein-coding 1344438 KIF17 kinesin family member 17 1580863 16713569,16710414,15489334,14673085,12514209,12493914,12477932,10846156,10718198 57576 NM_020816,NM_001122819,AL391357,AL663074,CH471134,AB037826,AB290162,AF009624,AY484427,BC036871,BC040639,BC065927,BX387401,CR604951,CR623989 NP_065867,NP_001116291,CAH73471,CAI23390,EAW94941,EAW94942,EAW94943,EAW94944,EAW94945,EAW94946,BAA92643,BAG06716,AAD01428,AAR33039,AAH36871,AAH65927,Q9P2E2 Hs.130411 GDB:11510080 KIAA1405|KIF17B|KIF3X protein-coding 1352766 KIF18A kinesin family member 18A 737633,1580863 18267093,17346968,16565220,16381901,16344560,15878648,15489336,15489334,15231748,14702039,12477932,11230166,11076863,14743216 737633 81930 NM_031217,AC023206,AC090159,CH471064,AB062483,AK093850,AL136819,AW770226,AY791349,BC026090,BC035917,BC048347,CR610087,DB080843 NP_112494,EAW68271,BAB93508,CAB66753,AAX16185,AAH26090,AAH48347,Q0JU28,Q4G194,Q8NI77,CAL37983 Hs.301052 DKFZP434G2226 protein-coding 2292085 KIF18B kinesin family member 18B 16084724,12477932 146909 NM_001080443,AC015936,BC044933,BC048263,BC067365 NP_001073912,AAH44933,AAH67365,Q6NWY8,Q86Y91 Hs.135094 protein-coding 1603919 KIF19 kinesin family member 19 16625196,16344560,15489334,14702039,12477932,11416179 124602 AC103809,CH471099,AA527573,AK094619,AW014742,AW339468,BC026362,BC067749,BC093631,BC104852,BC110989,BE219924,DA955730,NM_153209 EAW89150,EAW89151,EAW89152,EAW89153,BAC04386,AAH26362,AAH93631,AAI04853,AAI10990,Q2TAC6,Q8N2A4,NP_694941 Hs.372773 FLJ37300|KIF19A protein-coding 1312759 KIF1A kinesin family member 1A The protein encoded by this gene is a member of the kinesin family. This protein is highly similar to mouse heavy chain kinesin member 1A protein which is an anterograde motor protein that transports membranous organelles along axonal microtubules. It is thought that this protein may play a critical role in the development of axonal neuropathies resulting from impaired axonal transport. There are multiple polyadenylation sites found in this gene. 15489334,15014437,14702039,12522103,12477932,12435738,11701947,10737800,10323250,9110174,8889548,8661001,8619474,7937745,1846075,1538749,15722511,7539720,16946706,15815621 547 NM_004321,AC011298,AC112784,CH471063,AB209138,AB210029,AB290172,AF004425,AF038173,AF052089,AI815863,AI878864,AK054791,AK130880,AL706949,BC009491,BC021199,BC064906,BC111780,BC111799,BF879579,BF946744,BQ924476,BU732893,BX537556,CR597225,CR610146,L79946,U37194 NP_004312,AAX93238,AAX93239,EAW71214,EAW71215,EAW71216,EAW71217,BAD92375,BAE06111,BAG06726,AAD02917,AAB97363,AAH64906,AAI11781,AAI11800,CAH56161,AAB04640,AAA80352,Q12756 Hs.516802 ATSV|C2orf20|DKFZp686I2094|FLJ30229|HUNC-104|MGC133285|MGC133286|UNC104 protein-coding 732615 KIF1B kinesin family member 1B 1580863 10341097,18334619,17418584,17081983,16637659,16344560,16225668,15489334,15324660,15302935,14702039,14697242,12888911,12629046,12477932,12204119,12097473,11835375,11526494,11389829,10819331,10762626,10198040,9628581,9409358,8854876,7528108,14578343 23095 BF940695,BI601300,BT007174,AB040881,AB088210,AB088211,AB088212,AB088213,AF257176,AK022977,AK023184,AK025761,AK025771,AK074279,AU121683,AV726155,AY043362,AY139835,BC001415,BC028114,BC040017,BC047632,BC073883,BC094856,BC115395,NM_015074,NM_183416,AL139424,AL358013,AX039604,CH471130,AB011163,AB017133 AAP35838,O60333,Q4R9M7,Q4R9M8,Q4R9M9,Q4VXC3,Q4VXC4,Q4VXC5,Q4VXC6,Q9H8Z3,AAI15396,BAA95972,BAE02543,BAE02544,BAE02545,BAE02546,AAK49332,BAB14341,BAB14453,AAK85155,AAN17742,AAH01415,NP_055889,NP_904325,CAI95219,CAI95220,CAI95221,CAI95222,CAC16629,EAW71641,EAW71642,EAW71643,EAW71644,EAW71645,BAA25517,BAB69038 Hs.97858 GDB:128645 CMT2|CMT2A|CMT2A1|FLJ23699|HMSNII|KIAA0591|KIAA1448|KLP|MGC134844 protein-coding 731799 KIF1C kinesin family member 1C 1580863 9685376,17081983,16964243,16554367,15489334,12477932,10559254,9734811,16189514 10749 NM_006612,AC004771,AC012146,CH471108,AB014606,BC025365,BC034993,U91329 NP_006603,EAW90366,EAW90367,EAW90368,EAW90369,BAA31681,AAH34993,AAC52117,O43896 Hs.435120 GDB:9864935 KIAA0706|LTXS1 kinesin 1c protein-coding 1317032 KIF20A kinesin family member 20A 1580863 9438855,17081983,16565220,16381901,15665285,15489336,15489334,15263015,12939256,12477932,12469216,11416179,11076863,11071909,11060022,10893188,10806357,10233894 10112 NM_005733,AC106752,CH471062,AF070672,AF153329,AK024804,AK025790,BC012999,CR598555 NP_005724,EAW62157,EAW62158,AAC83230,AAD37806,AAH12999,O95235,Q0JUZ9,CAL37661 Hs.73625 FLJ21151|MKLP2|RAB6KIFL protein-coding 1312975 KIF21A kinesin family member 21A KIF21A belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM] 1580863,1600402 16365788,16157808,15827546,18363169,18332320,18323871,17511870,15671279,15621877,15621876,15489334,15223798,14702039,14595441,12702216,12477932,11214970,10508479,10225949,9734811,8075644 1600402 55605 AC084373,AC090668,AC121334,CH471111,AB051495,AB290166,AF155117,AF450487,AK000059,AK124704,AM177179,NM_017641,AY368076,BC032344,BC041430,BC047572,BX537855,CR621208,CR624190,CR624607,CR749623 NP_060111,EAW57802,EAW57803,EAW57804,EAW57805,EAW57806,BAB21799,BAG06720,AAD42883,AAP97680,BAA90916,CAJ45483,AAR04774,AAH41430,AAH47572,CAD97863,CAH18417,Q2UVF1,Q68D13,Q7Z4S6 Hs.374201 GDB:11510786 CFEOM|CFEOM1|DKFZp779C159|FEOM|FEOM1|FLJ20052|KIAA1708 protein-coding 1343896 KIF21B kinesin family member 21B KIF21B belongs to a family of plus end-directed kinesin (see MIM 600025) motor proteins. Neurons use kinesin and dynein (see MIM 600112) microtubule-dependent motor proteins to transport essential cellular components along axonal and dendritic microtubules.[supplied by OMIM] 737633,1580863 16710414,12477932,9455484 737633 23046 NM_017596,AC099756,AL358473,AB007918,AK131318,AL137395,AM177180,BC031927,BC052964,BC078676,CR596112,CR608417 NP_060066,CAI12384,BAA32294,BAD18481,CAB70723,CAJ45484,O75037,Q2UVF0,Q5T4J4,Q6ZN94,Q9NTB9 Hs.169182 FLJ16314 protein-coding 1323577 KIF22 kinesin family member 22 The protein encoded by this gene is a member of kinesin-like protein family. This family of proteins are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. 1580863 8599929,18329364,18268099,17726374,16565220,16176979,15489334,12805422,12727876,12692123,12606572,12477932,11564754,11416179,11146551,10966105,10966104,10493829,9790757,9685418,9373149,8146198,8125298 3835 L29095,L29096,AB017335,AC002301,AC009133,CH471238,AB017430,AK223431,BC004352,BC028155,BT007259,CR590954,CR590974,CR596474,CR615759,CR615781,NM_007317 AAA59960,AAA59961,O60845,O60846,Q14807,Q14984,Q14985,Q53F58,Q7LE35,ABM81697,ABM84578,ABM84858,ABM86755,NP_015556,BAA33063,AAC08711,AAC08712,EAW80004,EAW80005,EAW80006,EAW80007,EAW80008,EAW80009,EAW80010,BAA33019,BAD97151,AAH04352,AAH28155,AAP35923 Hs.613351 KID|KNSL4|OBP|OBP-1|OBP-2 protein-coding 1318460 KIF23 kinesin family member 23 The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in two transcript variants encoding two different isoforms. 1580863 1406973,17353931,17198681,17081983,16964243,16790497,16565220,16461284,16344560,15796717,15592455,15489334,15324660,15302935,15297875,15199097,15075367,15009096,12477932,11942621,11877456,11782313,11416179,10506747,10403813,8524282,15778465 9493 NM_138555,NM_004856,AC027237,CH471082,AI131325,AU133373,BC017705,BC051826,X67155 NP_612565,NP_004847,EAW77841,EAW77842,AAH17705,AAH51826,CAA47628,Q02241,ABW03421 Hs.270845 CHO1|KNSL5|MKLP-1|MKLP1 protein-coding 1349790 KIF24 kinesin family member 24 14702039,11416179 55265 XM_929828,XM_939512,AL353662,AK001795 XP_934921,XP_944605,CAI15920,BAA91916 Hs.652809 FLJ10933|bA571F15.4 protein-coding 1345652 KIF25 kinesin family member 25 The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. 1580863 9925916,14574404,11416179,9925910 3834 NM_030615,NM_005355,AB012723,AB016897,AL589733,CH471051,AB012722,AK289488,BC130489 NP_085118,NP_005346,BAA36418,CAI12327,CAI12328,EAW47474,EAW47475,EAW47476,BAA36417,BAF82177,AAI30490,Q5SZU8,Q9UIL4 Hs.150013 KNSL3|MGC163361 protein-coding 1317452 KIF26A kinesin family member 26A 1580863 12477932,11416179,10574462 26153 BC009415,BC025353,BE540821,NM_015656,AL359399,AB033062,AB290161,AK026406,AL117589 CAB56009,AAH09415,AAH25353,Q9H5Z5,Q9ULI4,NP_056471,BAA86550,BAG06715,BAB15472 Hs.134970 DKFZP434N178|FLJ22753|KIAA1236 protein-coding 1605983 KIF26B kinesin family member 26B 14702039,12477932,11181995 55083 NM_018012,AC093153,AC104462,AL359983,AL589763,AL592103,AL845334,CH471148,AK001019,AK125187,AK128806,AY923834,BC035896,BC042481 NP_060482,EAW77136,BAA91469,BAC86076,BAC87614,AAY17361,AAH35896,AAH42481,Q2KJY2 Hs.368096 FLJ10157|MGC35030 protein-coding 1344489 KIF27 kinesin family member 27 1580863 15547729,12783626 55582 NM_017576,AL354733,CH471089,AL133654,AY237536,AY237537,AY237538,BC140788 NP_060046,CAI16012,CAI16013,EAW62667,EAW62668,EAW62669,EAW62670,EAW62671,CAB63770,AAP04413,AAP04414,AAP04415,AAI40789,Q5T6V8,Q86VH2 Hs.697514 DKFZp434D0917|RP11-575L7.3 protein-coding 735496 KIF2A kinesin heavy chain member 2A Kinesins, such as KIF2, are microtubule-associated motor proteins. For background information on kinesins, see MIM 148760.[supplied by OMIM] 724431,1580863 18411309,17538014,17394562,16959419,16565220,16243029,15489334,15302853,14684825,12477932,9177777 724431 3796 EF560728,Y08319,NM_001098511,NM_004520,AC016637,AC034242,CH471137,AK315866,AY317140,AY429552,BC031828,BC047544,DB452624,DB456309,EF560716 ABQ59026,ABQ59038,CAA69621,O00139,ABM82273,ABM85453,NP_001091981,NP_004511,EAW51387,EAW51388,EAW51389,EAW51390,BAF98757,AAP84320,AAH31828 Hs.558351 GDB:6056871 HK2|KIF2 protein-coding 1351135 KIF2B kinesin family member 2B 17538014,15489334,14702039,12893827,12477932,12368902,11416179 84643 NM_032559,AC019315,CH471109,AF333335,AK057272,BC033802,DB457485 NP_115948,EAW94554,AAK20830,BAB71406,AAH33802,Q8N4N8 Hs.708626 protein-coding 734428 KIF2C kinesin family member 2C The protein encoded by this gene is a member of kinesin-like protein family. Proteins of this family are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein is important for anaphase chromosome segregation and may be required to coordinate the onset of sister centromere separation. 1580863 9434124,11092768,14718566,17968321,17944972,17653072,17538014,17081983,16672973,16344560,16243029,15883193,15635413,15489334,15304328,15302853,12477932,12383881,11466324,11416179,10600236,9700166,16751065,16189514 11004 NM_006845,AL592166,CH471059,AK290688,AL046197,AU130795,AY026505,BC008764,BC014924,BC032038,BT006759,BU615368,CR450302,U63743 NP_006836,CAI12996,CAI12997,CAI12998,CAI12999,CAI13001,EAX07025,BAF83377,AAK20168,AAH08764,AAH14924,AAH32038,AAP35405,CAG29298,AAC27660,Q5JR88,Q5JR89,Q6ICU1,Q8N5N1,Q99661,ABM84726,ABW03629 Hs.69360 KNSL6|MCAK kinesin-related protein 2 protein-coding 1352051 KIF3A kinesin family member 3A 1580863 17043677,1447303,17418584,16298999,16262723,15489334,15372022,15345558,12477932,12235292,11912492,10631107,10548469,9506951,9450952,9427749,8889548,7559760,1054846,14690447 11127 NM_007054,AC004039,AC004237,CH471062,AB209780,AF041853,AM177178,BC020890,BC032599,BC039592,BC045542,BI561509,BM978559,BX114214,BX953147,CR621012,CR622880 NP_008985,AAC04475,EAW62319,EAW62320,EAW62321,BAD93017,AAC72294,CAJ45482,AAH20890,AAH32599,AAH39592,AAH45542,Q05CT3,Q2UVF2,Q8IWH8,Q9Y496 Hs.43670 GDB:9956869 protein-coding 1315643 KIF3B kinesin family member 3B The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. 1580863 7559760,9865700,17008358,16298999,15345558,15231748,12832475,12821668,11912492,11780052,10548469,10395937,9506951,9427749,9205841 9371 NM_004798,AL121897,AL354800,CH471077,AB002357,AK098431,BQ431652,BU621710,CR597580 NP_004789,CAC16425,EAW76381,EAW76382,BAA20815,O15066 Hs.369670 GDB:9785689 HH0048|KIAA0359 protein-coding 731540 KIF3C kinesin family member 3C 1580863 9480755,17881655,16344560,15489334,12477932,9487132,9450952,9446808,10436176 3797 NM_002254,AC013449,AC064847,AJ002223,AJ002224,AJ002225,AJ002226,AJ002227,AJ002228,AJ002229,CH471053,AF018164,AF035621,BC042486,BC092406,BC130423,BC132783,BQ432434,BX571741,DB303776,BC018932 NP_002245,AAY24261,AAX88877,CAA05252,CAA05253,CAA05254,CAA05255,CAA05256,CAA05257,CAA05258,EAX00712,EAX00713,EAX00714,AAC05302,AAC39562,AAH42486,AAH92406,AAI30424,AAI32784,CAE11867,O14782,Q4ZG18,Q53SX5,Q7Z2W5 Hs.21611 GDB:9466548 protein-coding 1342700 KIF4A kinesin family member 4A Kinesins, such as KIF4A, are microtubule-based motor proteins that generate directional movement along microtubules. They are involved in many crucial cellular processes, including cell division (Zhu and Jiang, 2005 [PubMed 15625105]).[supplied by OMIM] 1580863 7929562,17353931,17081983,16964243,16565220,16344560,15772651,15625105,15489334,15326200,15297875,15031677,14702039,12927788,12809554,12477932,11736643,10978527,10773663,10559369,9168136,15148359 24137 NM_012310,AL139398,AL357752,CH471132,AB208797,AF071592,AF179308,AF277375,AJ271784,AK000638,AK022592,AK022717,AK024266,BC003664,BC011801,BC038459,BC049218,BC050548,CR614099,DA021880 NP_036442,CAI41024,EAX05341,EAX05342,EAX05343,BAD92034,AAD05492,AAD51855,AAF86334,CAB75427,AAH03664,AAH49218,AAH50548,O95239,Q59HG1,Q6PKB2 Hs.648326 GDB:10796966 FLJ12530|FLJ12655|FLJ14204|FLJ20631|HSA271784|KIF4|KIF4-G1 protein-coding 1346328 KIF4B kinesin family member 4B 16201836,10978527,10773663 285643 NM_001099293,AC008410,AF241316,DQ120629 NP_001092763,ABB92415,Q2VIQ3 Hs.567824 GDB:10796862 protein-coding 1347916 KIF5A kinesin family member 5A This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. 1580863 7514426,18245137,18203753,17420921,16489470,16169070,15452312,14600269,12477932,12355402,11986669,10964943,10491391,10441583,9858832,9624122,8889548,15256501 3798 NM_004984,AC022506,CH471054,AB210045,AB290174,AF063608,AL118561,AL707807,BC033961,BC035285,BC051752,BC140009,BC146670,BC150208,BM930000,CR603244,U06698 NP_004975,EAW97030,BAE06127,BAG06728,AAG43166,AAI40010,AAI46671,AAI50209,AAA20231,Q12840,Q9H3H7 Hs.151219 GDB:9864370 D12S1889|MY050|NKHC|SPG10 protein-coding 1344841 KIF5B kinesin family member 5B 1580863 17220478,17353931,1607388,17925227,17887960,17394562,16498388,16260607,15489334,15459722,15342556,15324660,15184079,15164054,12477932,12475239,12191989,11986669,10964943,10913441,10491391,9657148,9624122,8606779,7514426,14600269,15778465,15644324,15905402 3799 NM_004521,AL161932,CH471072,AK289413,BC010885,BC065267,BC080604,BC111042,BC126279,BC126281,BP361225,BU633712,DC399931,X65873 NP_004512,CAH71618,EAW85976,EAW85977,BAF82102,AAH65267,AAH80604,AAI11043,AAI26280,AAI26282,CAA46703,P33176,Q2TA90,Q66K46,Q6P164 Hs.644646 GDB:135352 KINH|KNS|KNS1|UKHC protein-coding 1318370 KIF5C kinesin family member 5C 1580863 9782088,17353931,17887960,16835241,15644324,12477932,9628581,9361024,7514426,11319135 3800 NM_004522,AC073271,AC105402,AC108512,AC144443,AC144611,CH471058,AB011103,AB073396,AB209191,AF010146,AK126689,AL050070,AL117393,BC002721,BC017298,BC025961,BC110287,BC127772,CR612604 NP_004513,AAY24013,AAX82030,AAX82036,AAX82035,EAX11544,BAA25457,BAE45725,BAD92428,AAD01436,CAB55895,AAH02721,AAH17298,AAH25961,AAI10288,AAI27773,O60282,Q2YDC5,Q3LIE3,Q53QT4,Q57YV5,Q57YV6,Q57Z91,Q59GB8,Q6PJC4,Q6PKD1,Q9UFW7 Hs.435557,Hs.660699 GDB:9864372 FLJ44735|KIAA0531|KINN|MGC111478|NKHC|NKHC-2|NKHC2 protein-coding 1346574 KIF6 kinesin family member 6 18222355,18222354,18222353,18073581,17975119,16189514,15489334,14702039,14574404,12477932 221458 NM_145027,AL035464,AL136087,AL160161,AL161439,AL590387,AK123217,AK131471,AL832634,BC022074,BC043552,BC098418,BC117307,BX649045 NP_659464,CAI42129,CAJ58469,CAJ58470,CAI19535,CAJ58471,CAJ58472,CAJ58473,CAI19716,CAJ58474,CAJ58475,CAJ58476,CAJ58477,CAJ58478,CAJ58479,BAC85560,BAD18616,CAD89950,AAH22074,AAH98418,AAI17308,Q17RI8,Q4KMP8,Q6ZMV9 Hs.588202 C6orf102|DKFZp451I2418|MGC33317|dJ1043E3.1|dJ137F1.4|dJ188D3.1 protein-coding 1343265 KIF7 kinesin family member 7 15547729,12975309,12477932,15547730,11416179 374654 NM_198525,AC013787,CH471101,AY358384,BC040878,BC104044,BC112271,BC112273 NP_940927,EAX02057,AAQ88750,AAH40878,AAI04045,AAI12272,AAI12274,Q2M1P5 Hs.513134 MGC120653|MGC138476|MGC138478|UNQ340 protein-coding 1313687 KIF9 kinesin family member 9 1580863 14702039,12477932,11483511,15489334 64147 NM_182902,NM_022342,NM_182903,AC104447,CH471055,AF311212,AK023894,AK292547,BC015311,BC030657,BC104479 NP_878905,NP_071737,NP_878906,EAW64813,EAW64814,EAW64815,EAW64816,EAW64817,AAG33849,BAB14713,BAF85236,AAH15311,AAH30657,AAI04480,Q6PJI1,Q9HAQ2,ABM83394,ABM86607 Hs.373947 GDB:11500544 MGC104186 protein-coding 1313072 KIFAP3 kinesin-associated protein 3 The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 'Armadillo' repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. 1580863 9506951,8900189,17113389,17002498,16713569,16710414,16298999,16262723,16043481,15489334,14702039,12477932,11912492,9427749,16189514 22920 NM_014970,AL121714,AL356475,CH471067,AK026471,AK122897,BC028679,BC048012,BG707718,CR603300,U59919 NP_055785,EAW90869,EAW90870,EAW90871,EAW90872,EAW90873,AAH28679,AAC50788,Q5VXV9,Q5VXW0,Q92845,ABM81878,ABM85040 Hs.433442 GDB:9957730 FLJ22818|KAP3|SMAP|Smg-GDS|dJ190I16.1 protein-coding 1349353 KIFC1 kinesin family member C1 1580863 8276466,17326138,17081983,15489334,14574404,12477932,11416179,10369922 3833 AL021366,AL662799,BX088650,BX248088,CH471081,AI990093,AJ010479,BC000712,BC063567,BC073878,BC098438,BC121041,BC121042,BE885900,CR596317,D14678,NM_002263 NP_002254,CAA16157,CAI18269,CAM26294,CAI41792,CAM25707,EAX03726,EAX03727,EAX03728,CAA09217,AAH00712,AAH63567,AAH73878,AAH98438,AAI21042,AAI21043,BAA03509,Q9BW19 Hs.436912 HSET|KNSL2|MGC1202|MGC149736|MGC149737 protein-coding 1352702 KIFC2 kinesin family member C2 1580863 15489334,14702039,12477932,9115737,9110174,8619474 90990 NM_145754,AC084125,CH471162,AK055045,AY007121,BC015171,BC017311 NP_665697,EAW82085,EAW82086,EAW82087,BAB70844,AAH15171,AAH17311,Q96AC6,Q96BU4,Q96NN6 Hs.528713 protein-coding 1317029 KIFC3 kinesin family member C3 1580863 9782090,17286855,15489334,14702039,12477932,12135985,11581287,10375449,8240664 3801 NM_005550,AC092118,CH471092,AB209290,AF004426,AK091891,AK291737,BC001211,BC008014,BC019057,BC034234,BC041132,BC047051,BX647698,CR615160,DQ426879,S66945,X70309 NP_005541,EAW82953,EAW82954,EAW82955,EAW82956,BAD92527,AAC24153,BAF84426,AAH01211,AAH08014,AAH34234,AAH41132,AAH47051,CAI46023,ABD90538,AAB29033,CAA49788,Q5HYG9,Q9BVG8,ABM82783,ABM85972 Hs.23131,Hs.495080 GDB:9835930 DKFZp686D23201 protein-coding 1315717 KIN KIN, antigenic determinant of recA protein homolog (mouse) The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. 1580863 1923796,17045609,12359749,12754299,18029424,16511313,15831485,15635413,12853634,12751957,12525703,12477932,11880372,10964102,10779351,10504327,9266022 22944 NM_012311,AL158044,CH471072,AJ005273,BC017309,BX504040,CR595908,CR618602 NP_036443,CAI12959,EAW86374,CAA06462,AAH17309,O60870 Hs.397918 GDB:9957755 BTCD|KIN17 protein-coding 1351802 KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 11904677,11323700,11169255,11163076,11009104,10820396,10429675,9799338,9768753,9686591,9430221,9430220,9378975,9288975,7716543,15879158,15730517,15310528,15209394,14607943,12847262,12794140,12559621,12477932,12454284,12393468,12351398,12121272,10424431,7749980,18340360,18269867,18186800,17990989,17868255,17522341,17498266,17493149,17490516,16774543,16709835,16571411,16508981,16403292,16141329,16112031,15896204 3802 U24078,U96189,AF285432,AY366237,AY366238,AY366239,AY366240,AY366241,AY388471,AY789055,AY789056,BC069344,L41267,U24076,NM_014218,NG_005994,NG_005990,AC011501,AF133901,AL133414,AY320039,CU041368,DQ466577,AF022045,AF135560,AF285431 AAC50335,AAC50337,AAB54119,O00381,P43626,Q1KMT8,Q32WE6,Q6H2H1,Q6H2H2,Q6H2H3,Q6H2H4,Q6IST4,Q9UNB9,Q9UNC0,Q9UNC1,Q9UNC2,Q9UNC6,Q9UNC7,Q9UND0,AAG34923,AAR16195,AAR16196,AAR16197,AAR16198,AAR16199,AAR26324,AAX23100,AAX23101,AAH69344,AAA69868,NP_055033,AAD24474,CAQ07831,ABF13296,AAB95318,AAD48768,AAG34922 Hs.654605,Hs.661101 GDB:698165 CD158A|KIR-K64|KIR221|NKAT|NKAT1|p58.1 protein-coding 1347662 KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 18269867,18091530,17882223,17868255,17498266,17445184,17200871,16929347,16774542,16698433,16698429,16571411,16469873,16403292,16112031,15896204,15879158,15848530,15730517,15699512,15248031,15146426,15140215,14607943,12559621,12473268,12121272,11750651,11169255,10850706,10190900,10097129,9476117,8662091,7749980 3803 NG_005994,NM_014219,AL133414,AY320039,CU464060,AF285434,AY366242,L76669,U24075 NP_055034,CAC40703,CAQ52578,AAG34925,AAR16200,AAB36597,AAC50334,P43627,Q6H2H0,Q8N742,AAI52937 Hs.659860 GDB:9558578 CD158B1|CD158b|NKAT6|p58.2 protein-coding 1351159 KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 9059894,7749980,18289678,18269867,18158964,18091530,17882223,17868255,17522341,17498266,17490516,17285553,17200871,17145370,16929347,16571411,16403292,16112031,15896204,15879158,15730517,15489334,15297676,15248031,15227739,15217996,12559621,12477932,12121272,11958591,11904677,11169255,10497191,10424431,10196125,9768753,9751747,9497500,9430221,9430220,9378975,9234478,8692965,8662091,7716543,3501368,16189514 3804 NM_014511,NG_005990,AC006293,AC011501,AF133900,CU041368,CU464054,U97180,AF022048,AF135556,AF135566,AF135567,AF285435,AY789057,BC032422,BC050730,BC110613,L41268,L76662,L76663,U24074,NM_015868,U50546,U73395,U96190 NP_056952,NP_055326,AAD03160,AAD24477,CAQ07829,CAQ06736,AAC51651,AAB95321,AAD48764,AAD48760,AAD48761,AAG34926,AAX23102,AAH32422,AAH50730,AAI10614,AAA69869,AAB36590,AAB36591,AAC50333,AAB17730,AAC51147,AAB54120,O00382,P43628,Q32MZ1,Q32WE4,Q92803,Q9UNB4,Q9UNB5,Q9UNC5,Q9UPI8,ABM92239,ABM84717 Hs.654605,Hs.654608 GDB:702145 CD158B2|CD158b|GL183|KIR-023GB|KIR-K7b|KIR-K7c|KIRCL23|MGC129943|NKAT|NKAT2|NKAT2A|NKAT2B|p58 protein-coding 1353116 KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. 1580863 15780179,15778373,15778339,15730517,15670976,15580659,15333596,14700593,14500636,12902476,12826375,12794136,12616484,12559621,12538663,12477932,12370356,12055234,11994457,11754000,11489965,11169255,10190900,9430221,9430220,9234477,8946682,18347914,18186800,18082267,18074414,17868255,17610421,17498266,17490516,17200871,17171757,16403292,16366734,15896204,15853895,9059894 3805 AY725071,AY725078,AY725085,AY725091,AY725098,AY725105,AY727757,AY727758,AY727759,AY727760,AY727761,AY727762,AY727763,AY727764,CH471135,NM_001080772,NM_001080770,NG_005994,NG_005990,AC011501,AF003123,AF110035,AL133414,AF002256,AF002979,AF002980,AY320039,AY721623,AY725063,NM_002255,X99480,X99481,Y13054,X99479,AY223513,AY223514,AY223515,AY250088,AY359817,AY601812,AY789058,AY789059,AY789060,AY789061,AY789062,BC028137,BC041611,BM918119,DQ266438,DQ272466,U71199,U73394,X97229,AY223512,AF002982,AF034771,AF034772,AF034773,AF276292,AF285436,AY052496,AY052497,AY052498,AF002981 AAW32130,AAW32131,AAW32129,AAW32132,AAW32127,AAW32126,AAW32088,AAW32089,AAW32090,AAW32091,AAW32092,AAW32093,AAW32094,AAW32095,EAW72279,EAW72280,EAW72281,NP_002246,NP_001074241,NP_001074239,AAB61926,AAD24763,CAC40705,CAC40706,EAW72282,EAW72283,AAB61282,AAB71387,AAW32128,CAC40707,CAC40708,CAC40709,CAC40710,CAC40711,AAW32125,CAA67842,CAA67843,CAA67844,CAA73497,O00547,O43803,Q32WD9,Q32WE0,Q32WE1,Q32WE2,Q5IH82,Q5IH87,Q5IHW5,Q5IHW6,Q5IHW9,Q6UV36,Q86U48,Q86VF1,Q86WL6,Q86WL7,Q8N736,Q8N737,Q8N738,Q8N739,Q8N740,Q8N741,Q8NHK1,Q96L47,AAO46034,AAO46035,AAO46036,AAO46037,AAP02958,AAQ83723,AAT11793,AAX23103,AAX23104,AAX23105,AAX23106,AAX23107,AAH41611,ABB73033,ABB84493,AAB49756,AAC51146,CAA65868,AAB71390,AAB95164,AAB95165,AAB95166,AAG44820,AAG34927,AAL14211,AAL14212,AAL14213,AAB71388,AAB71389,Q96L48,Q96L49,Q99706 Hs.651287,Hs.661219 GDB:9558586 CD158D|G9P|KIR103|KIR103AS protein-coding 1607012 KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 18297378,18074414,17868255,17592337,17557377,17498266,17490516,17464504,17371997,17215859,17200871,16774542,16698429,16403292,15896204,15187115,15140215,12185535,12121272,11086080,10820258 57292 NM_020535,NG_005994,AF204904,AF217485,AL133414,AY320039,CU459006,EF102434,EF473257,EF473258,EF473261,EF473264,AF204903,AF217487 NP_065396,AAF74055,AAG40152,CAC40714,CAQ10171,ABK97618,ABR88101,ABR88102,ABR88105,ABR88108,AAF72845,AAG37101,Q0KH99,Q8N109 Hs.676464 CD158F|KIR2DL5|KIR2DL5.1|KIR2DL5.3 protein-coding 1605151 KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 17215859,16403292,12185535,11086080,10820258 553128 NG_005994,NM_001018081,AF204905,AF217486,AF272157,AL133414,AY320039,AF271607,AF271608,AJ544587 NP_001018091,AAG44797,AAG44777,AAG44778,CAD67580,Q8NHK3,Q8NHK4,AAI56861 Hs.676464 KIR2DL5|KIR2DL5.2|KIR2DLX protein-coding 1605452 KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1 18186800,18074414,17498266,17490516,16403292,10820258 554300 NG_005990,NG_005994,AC011501,AF204908,AY320039 KIR15|KIR2DL6|KIRY|KIRZ pseudo 1347492 KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 8627176,18340360,18263639,18074414,17882223,17868255,17617375,17498266,17445179,16829306,16806233,16698429,16504727,16403292,16185272,16141329,16112031,15896204,15310528,15140215,15057824,12559621,12477932,11169255,10527385,10424431,9464792,9430221,9430220,7650491 3806 NM_014512,NG_005994,AL133414,AY320039,CU459006,AF022046,AF285437,BC096725,X89892,X98858 NP_055327,CAC40716,CAQ10173,AAB95319,AAG34928,CAA61982,CAA67364,Q14954,Q30189,Q9UNC4,AAI66637 Hs.661101 GDB:9558588 CD158H|CD158a|p50.1 protein-coding 1344459 KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 14514651,12668644,12591902,12559621,12477932,11470774,11369787,11172020,11169398,11169255,10658980,10424431,9497500,9490415,7749980,7716543,8662091,8627176,18340360,18158964,18091530,18074414,17882223,17868255,17498266,17490516,17445184,17445179,17200871,16929347,16623599,16504727,16403292,16112031,15896204,15699512,15356118,15146426,15057824,14607943 3807 NG_005994,NM_012312,AL133414,AY320039,AF074087,AF135565,AF285438,AJ002102,AJ002103,AJ002104,AJ002105,AY366244,BC108917,BC119631,BC119632,BC125146,BC126856,L41347,L76667,L76668,U24079,X89893,AY366243 NP_036444,CAC40717,AAC26790,AAD48759,AAG34929,CAA05182,CAA05183,CAA05184,CAA05185,O43754,O43755,O43756,O75579,P43631,Q14949,Q14950,Q6H2G8,Q6H2G9,Q9UNB6,AAR16201,AAR16202,AAI08918,AAI19632,AAI19633,AAI25147,AAI26857,AAA65225,AAB36595,AAB36596,AAC50338,CAA61983,O43753 Hs.654605,Hs.512572 GDB:9558590 CD158J|CD158b|MGC120018|NKAT5|p58 KIR protein-coding 1350757 KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 17462498,16829306,16508981,16403292,15896204,12559621,9430221,9430220,8662091,7749980,8765026,18340360,18074414,17882223,17868255,17498266 3808 NG_005994,NM_012313,AL133414,AY320039,AF022047,AY789063,L76670,X97231 NP_036445,AAB95320,AAX23108,AAB36598,CAA65870,Q14952,Q32WD8,AAI56609 Hs.659860 GDB:9558592 NKAT7 protein-coding 1348050 KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 7749980,18444913,18340360,18186800,17868255,17498266,17493145,17490516,17257315,17200871,17145370,16641046,16403292,15896204,15730517,15265913,15219381,14607943,12477932,12445308,12391228,11390475,11169255,10816589,10424431,9521070,9378975,8765026,8662091 3809 X94609,NG_005990,NM_012314,AC011501,AF134312,AF134316,AL133414,AY523799,AY523801,AY523803,CH471135,CU151839,AF002255,AF135563,AJ417554,AJ417555,AJ620615,AJ620616,AY102623,AY102624,AY366245,AY366246,AY388472,AY789064,BC096694,BC101977,BC103693,BC108918,BC125147,BC127084,L76671,U24077,U96188 CAA64317,O00380,P43632,Q32MZ0,Q32WD7,Q4KN55,Q6H2G6,Q6H2G7,Q6QWD7,Q6QWD9,Q86VI5,Q86VI6,Q8NHI9,Q8NHJ0,Q9UNB8,Q9UQL7,AAB54118,NP_036446,AAD24479,AAS73157,AAS73158,AAS73159,EAW72287,EAW72288,CAQ09200,AAB61281,AAD48757,CAD10378,CAD10379,CAF05810,CAF05811,AAM52329,AAM52330,AAR16203,AAR16204,AAR26325,AAX23109,AAH96694,AAI01978,AAI03694,AAI08919,AAI25148,AAI27085,AAB36599,AAC50336 Hs.654608 GDB:9558594 CD158I|KIR1D|KIR412|KKA3|MGC120019|MGC125315|MGC125317|NKAT8 protein-coding 1345824 KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 8662091,18315912,17868255,17592337,17498266,17490516,17174747,16829306,16698433,16698429,16403292,15896204,14607943,12559621,11144295,8765026,7749980 3810 NM_014513,NG_005994,AL133414,AY320039,CU459006,AF208054,AF272389,AY366247,AY366248,L76672 NP_055328,CAC40715,CAQ10172,AAG35724,AAK83693,AAR16205,AAR16206,AAB36600,Q14953,Q6H2G4,Q6H2G5,Q7L8K3,Q8NHK2 Hs.659860 GDB:9558596 CD158G|NKAT9 protein-coding 735895 KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 8662091,7650366,7716543,18358829,18340360,18331531,18269867,18186800,17990989,17950922,17868255,17694054,17498266,17493145,17490516,17462498,17301953,17200871,17182560,17182537,16818466,16805919,16508981,16403292,16210627,15896204,15784466,15730517,15580659,15217996,14662867,14607943,12826375,12794136,12559621,12538663,12477932,12244166,11904677,11859120,11733001,11207248,11098931,10774747,9894849,9430221,9430220,9059894,8777725,8760804,8046332,7749980,17202323,15942906,16189514,12134147 3811 BC101542,BC101540,DQ178659,L41269,L76664,U30273,U30274,U31416,U33328,X94262,NM_013289,NG_005990,AC011501,AF104856,AF105239,AY523806,AY723746,AY760023,AY760024,AY760025,AY760026,AY760027,AY760028,AY760029,AY760030,AY760031,AY760034,AY760035,AY760036,CH471135,AF022049,AF103010,AF103011,AF103012,AF103013,AF208688,AF208689,AF262968,AF262969,AF262970,AF262971,AF262972,AF262974,AJ417556,AJ417557,AY366236,AY366249,AY366250,AY366251,AY366252,AY760050,AY789065,AY789066,AY789072,BC028206,AF262973 AAH28206,AAI01541,AAI01543,ABA56493,AAA69870,AAB36592,AAB52521,AAB52522,AAC23725,AAC23726,CAA63938,P43629,Q14946,Q15702,Q1PSF1,Q5UCD7,Q5UCD8,Q5UCD9,Q5UCE1,Q5UCE2,Q646T8,Q6H2G0,Q6H2G1,Q6H2G2,Q6H2G3,Q6QWD6,Q8N0X6,Q8N0Z7,Q8N152,Q8N6C9,Q8NHK7,Q8NHK8,Q8NHK9,Q8NHL0,Q8NHL7,Q9NZF5,Q9NZF6,Q9UEQ9,Q9UER0,Q9UER1,Q9UER2,ABM82005,ABM85187,NP_037421,AAF61291,AAF61292,AAS73160,AAU29054,AAV32436,AAV32437,AAV32438,AAV32439,AAV32440,AAV32441,AAV32442,AAV32443,AAV32444,AAV32447,AAV32448,AAV32449,EAW72284,EAW72285,EAW72286,AAB95322,AAC83927,AAC83928,AAC83929,AAC83930,AAF29520,AAF29521,AAK30055,AAK30056,AAK30057,AAK30058,AAK30059,AAK30060,AAK30061,CAD10380,CAD10381,AAR16194,AAR16207,AAR16208,AAR16209,AAR16210,AAX89521,AAX23110,AAX23111,AAX23117 Hs.645228 GDB:698358 CD158E1|KIR|MGC119726|MGC119728|MGC126589|MGC126591|NKAT3|NKB1|NKB1B protein-coding 1343393 KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 iller cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. 1580863 7716543,18347914,18186800,18074414,17868255,17661911,17498266,17490516,16962036,16948642,16767680,16403292,15896204,15730517,15304002,14607943,14562047,12559621,12538663,12477932,11904677,11859120,11207248,10861046,10774747,9430221,8777725,8760804,8662091,8617928,7749980 3812 NG_005990,AC011501,AY523809,AY523812,CH471135,CU464063,Y11358,AF208683,AF208684,AF208685,AF208686,AF208687,AF208690,AF262965,AF262966,AF262967,AF263617,AJ276125,AY059418,AY059419,AY059420,AY366256,AY789067,AY789068,AY789069,AY789070,AY789071,BC105678,NM_006737,BC107951,CR595187,CR609522,DQ256504,L41270,L76665,L76666,U30272,X93595,X93596,X94373,X94374 NP_006728,AAS73161,AAS73162,EAW72289,EAW72290,CAQ08880,CAA72192,AAF29515,AAF29516,AAF29517,AAF29518,AAF29519,AAF29522,AAK30052,AAK30053,AAK30054,AAK30062,CAC35466,AAL27093,AAL27094,AAL27095,AAR16214,AAX23112,AAX23113,AAX23114,AAX23115,AAX23116,AAI05679,AAI07952,ABB71822,AAA69871,AAB36593,AAB36594,AAB52520,CAA63791,CAA63792,CAA64150,CAA64151,O78200,P43630,Q2XSU5,Q32WD0,Q32WD1,Q32WD2,Q6H2F6,Q6QWD4,Q6QWD5,Q8N734,Q8NHI4,Q8NHI5,Q8NHI6,Q8NHK6,Q8NHL1,Q8NHL2,Q95366,Q95368,Q9BQU0,Q9NZF4,Q9NZF7,Q9NZF8,Q9NZF9,Q9NZG0,Q9NZG1 Hs.645228 GDB:9550648 CD158K|MGC125321|NKAT4|NKAT4B|p140 protein-coding 1352085 KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. 1580863 18347914,18186800,18074414,17900289,17868255,17498266,17490516,16823588,16634863,16403292,16391939,15896204,15778373,15730517,11960306,11513144,9862332 115653 NM_153443,NG_005990,NG_005994,AC006293,AF072410,AL133414,AY083461,AY083462,AY320039,AY987937,AY987938,AY987939,AY987940,AY987941,AY987942,AY987943,AY987950,AY987958,CH471135,AF352324,AJ938052,AJ938053,AJ938054,AJ938055,AJ938056,AJ938057,AJ938058,AJ938059,AJ938060,AJ938061,AJ938062,AJ938063,AJ938064,AJ938065,AJ938066,BC136283 NP_703144,AAD03159,AAC99763,CAC40702,AAM00023,AAM00024,ABC03227,ABC03228,ABC03229,ABC03230,ABC03231,ABC03232,ABC03233,ABC03234,ABC03226,EAW72274,AAK30258,CAI79387,CAI79388,CAI79389,CAI79390,CAI79391,CAI79392,CAI79393,CAI79394,CAI79395,CAI79396,CAI79397,CAI79398,CAI79399,CAI79400,CAI79401,AAI36284,Q1X775,Q1X777,Q1X778,Q1X779,Q1X780,Q1X781,Q1X782,Q1X783,Q8N743 Hs.645224 CD158Z|KIR3DL7|KIR44|KIRC1 protein-coding 1603443 KIR3DP1 killer cell immunoglobulin-like receptor, three domains, pseudogene 1 Killer cell Ig-like receptors (KIRs) enable natural killer cells to survey the expression of individual HLA class I molecules. KIR genes cluster in a 150-kb region of chromosome 19q13.4, and the organization of the KIR gene cluster varies extensively among individuals. KIR3DP1 is designated a pseudogene because its RNA is normally undetectable in peripheral blood mononuclear cells (PBMCs). However, some individuals have a duplication of the KIR3DP1-KIR2DL4 (MIM 604945)-KIR3DL1/KIR3DS1 (MIM 604946) gene cluster that is associated with a functional KIR3DP1 gene (Gomez-Lozano et al., 2005 [PubMed 15580659]). For further background information on KIRs, see MIM 604936.[supplied by OMIM] 17498266,16403292,15580659,15194195,10820258 548594 NG_005990,NG_005994,AC011501,AF133901,AF204919,AL133414,AY320039 AAD24475,CAC40704,Q7L8K4 CD158c|KIR2DS6|KIR3DS2P|KIR48|KIRX pseudo 1352733 KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. 1580863 8662091,18351333,18340360,18331531,18317000,18305035,18297378,18074414,18025129,17997746,17990989,17882223,17868255,17687550,17641029,17592337,17490516,17301953,17202323,17200871,17182560,16805919,16698433,16698429,16508981,15942906,15896204,15580659,12826375,12477932,12134147,11859120,11098931,9430221,9430220,9059894 3813 NM_001083539,NG_005994,AF001883,AL133414,AY320039,AY760032,AF022044,AJ417558,BC098107,BC098288,BC105679,L76661,U73396,X97232,X97233 NP_001077008,AAB94765,CAC40712,CAC40713,AAV32445,AAB95317,CAD10382,AAH98107,AAH98288,AAI05680,AAB36589,AAC51148,CAA65871,CAA65872,O43469,P78403,Q0VGG8,Q14943,Q4KN23,Q5UCD2,Q8N735,Q8NHI8,Q99564,Q99565,Q9UQA2 Hs.683173 GDB:9558600 CD158E2|KIR-123FM|KIR-G1|MGC119726|MGC119728|MGC125316|NKAT10 protein-coding 1602993 KIR3DX1 killer cell immunoglobulin-like receptor, three domains, X1 16911775,14702039,12477932,11441184 90011 NM_001047605,AC009892,AC104536,CH471135,CU024913,CU234142,AK024467,BC033195,DQ224421 NP_001041070,EAW72255,EAW72256,CAQ09340,CAQ09961,BAB15757,AAH33195,ABB53378,Q8N0S4,Q9H7L2,AAI48665,AAI56592 Hs.288520 FLJ00060|KIR3DL0|LENG12 protein-coding 1349040 KIRREL kin of IRRE like (Drosophila) NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM] 1580863 18258597,17968527,16968734,15489334,15144186,14702039,12865409,12660326,12646566,12578837,12477932,12424224,11416156 55243 AL139010,CH471121,AK001707,AK022708,AK090554,AY017369,AY302131,BC025268,BC051356,BC067097,BC082969,BC109192,NM_018240,BC109193 NP_060710,CAH73881,CAH73882,CAH73883,EAW52852,EAW52853,EAW52854,EAW52855,BAA91850,BAB14192,BAC03476,AAK00529,AAP59845,AAH25268,AAH51356,AAH67097,AAH82969,AAI09193,AAI09194,Q5W0F8,Q5W0F9,Q5W0G0,Q8NBG7,Q96J84 Hs.609291,Hs.657006 GDB:11506171 FLJ10845|MGC129542|MGC129543|NEPH1 protein-coding 1318234 KIRREL2 kin of IRRE like 2 (Drosophila) 12837264,16741999,15489334,15340161,12975309,12504092,12477932,11230166,8889548 84063 NM_199180,NM_032123,NM_199179,AC002133,AD000864,AX521478,AL136654,AY305301,AY305302,AY358742,BC007312,BC064925,BU730182,CR593108 NP_954649,NP_115499,NP_954648,CAD52967,CAB66589,AAP72166,AAP72167,AAQ89102,AAH07312,AAH64925,Q6UWL6 Hs.145729 GDB:11508996 DKFZP564A1164|FILTRIN|MGC15718|NEPH3|NLG1 protein-coding 1322814 KIRREL3 kin of IRRE like 3 (Drosophila) NEPH2 is a member of the nephrin-like protein family, which includes NEPH1 (KIRREL; MIM 607428) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM] 12424224,15489334,14702039,12975309,12477932,11347906 84623 NM_032531,AP000741,AP000806,AP001783,AP002832,AP002833,CH471065,AB058770,AF480410,AK092047,AY358743,AY358760,BC042432,BC065255,BC071838,BC101775,BC101801 NP_115920,EAW67698,EAW67699,EAW67700,BAB47496,AAN73042,AAQ89103,AAQ89120,AAI01776,AAI01802,Q8IZU9 Hs.657065 KIAA1867|KIRRE|MGC126824|MGC126850|NEPH2|PRO4502 protein-coding 1352127 KISS1 KiSS-1 metastasis-suppressor This gene is a metastasis suppressor gene that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity. The encoded protein may function to inhibit chemotaxis and invasion, attenuating metastasis in malignant melanomas. Studies suggest a putative role in the regulation of events downstream of cell-matrix adhesion, perhaps involving cytoskeletal reorganization. A polymorphism in the terminal exon of this mRNA results in two protein isoforms. An adenosine present at the polymorphic site represents the third position in a stop codon. When the adenosine is absent, a downstream stop codon is utilized and the encoded protein extends for an additional seven amino acid residues. 1580863,2292123,2292132,2289400,2292135,2292128,2292136,2292127 11387329,9192814,18434521,18211678,18005407,17914099,17695545,17609410,17488799,17334929,17323132,17023533,16964286,16731583,16710414,16650418,16283480,16260418,16146758,16034182,15598687,15596153,15592684,15500545,15498874,15489334,15300798,15219839,15144186,15020672,14977840,12944565,12898236,12650602,12574233,12547718,12477932,12414911,11994395,11606374,11527393,11457843,11385580,11060311,9806840,9185708,8944003,12879005 2292123,2292132,2289400,2292135,2292128,2292136,2292127 3814 AL592114,CH471067,AF218017,AK291695,AY117143,BC022819,NM_002256,CR594921,CR603087,CR609203,CR618718,CR622101,CR625917,U43527 ABM87045,CAH71226,EAW91506,EAW91507,AAG17259,BAF84384,AAM78592,AAH22819,NP_002247,AAC79512,Q15726,ABM83725 Hs.95008 GDB:9837511 KiSS-1|METASTIN|MGC39258 protein-coding 731975 KISS1R KISS1 receptor The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. 70752,1599279,704404,1599280,1580863,2292123,2292127 11387329,18005407,17914099,17700012,17334928,17023533,16731583,16322390,16309735,16034182,15598687,15596153,15519892,15057824,15020672,14977840,14573733,12944565,12898236,12788881,12477932,12414911,11994395,11527393,11457843,11414709,11385580,10100623 70752,1599279,1599280,2292123,2292127 84634 NM_032551,AC005379,CH471139,CQ878955,CQ891716,AA887801,AB051065,AF343725,AJ309020,AY029541,AY253981,AY253982,BC140825,BC141812,CA432866,CR621438 NP_115940,EAW69583,CAH60299,CAH68808,BAB55446,AAK83235,CAC40817,AAK33126,AAP82929,AAP82930,AAI40826,AAI41813,Q969F8 Hs.208229 GDB:9955637 AXOR12|GPR54|HOT7T175 g protein-coupled receptor 54 protein-coding 731382 KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. 1600050,1600047,1580863,1600045,1600046,2292419,2292425,2292422,2292423,2292424,2292414,2292426,2292421,2292170,2292181,2292430 17662946,9438854,9990072,18416137,18413817,18360281,18314612,18314611,18294292,18270328,18265649,18265633,18259950,18245707,18212542,18192885,18187489,18183595,18165278,18084259,18066592,18042065,18006222,17989000,17965221,17960171,17949810,17943970,17928050,17909012,17904548,17894554,17875504,17855052,17850794,17827398,17767956,17726262,17720713,17710669,17691909,17681176,17673922,15583854,15512818,15507676,15507672,15502806,15471556,15370139,15363457,15339674,15337769,15326474,15315962,15308671,15234225,15224284,15217946,15194144,15167915,15161681,15154005,15146197,15145934,15112348,15073598,15073597,15062876,15044924,15033665,15018431,15007095,14994370,14981116,14871970,14745431,14724587,14707129,14695343,14677065,14669790,14657715,14654075,14647465,14634801,14625290,12918066,12878163,12824925,12824871,12796027,12759497,12754375,12711118,12666065,12646235,12598308,12592353,12584564,12542597,12522257,12511554,12485499,12477932,12457234,12444928,12429808,12393703,12379771,12374739,12204004,12172985,12134042,12111653,12091362,12072198,12063025,12041664,12036870,12008077,11919394,11861291,11825908,11809791,11805142,11786393,11642722,11517291,11505412,11388751,11380399,11124255,11074500,11071635,11018522,10872802,10679268,10582339,10477727,10397721,10377264,10362788,10358045,10022833,9872323,9847074,9827716,17658483,17645464,17632543,17623951,17595334,17573850,17551405,17546049,17545544,17526803,17525721,17519280,17495964,17487541,17487504,17448763,17438095,17372901,17367465,17337216,17298867,17289809,17193822,17124503,17119051,17072721,17060458,17024483,17018686,16928224,16905672,16842246,16840725,16830365,16786129,16785193,16784237,16780420,16773696,16760463,16741248,16697720,16685437,16623778,16597595,16551858,16533529,16479070,16460801,16445822,16426921,16373964,16357008,16352739,16335952,16320053,16271084,16242000,16235251,16188233,16175573,16143141,16135486,16082245,16076867,16029447,16015387,15991300,15897742,15869870,15795882,15791570,15791568,15780567,15725473,15688149,15685537,15671569,15623596,15621809,15618926,15618474,15617841,9799234,9788619,9699740,9697690,9657776,9528781,9450866,9355737,9341198,9092574,9038210,9029028,9027509,8950973,8751459,8680409,8647802,8611693,8589724,8527164,7693453,7691885,7687267,7684496,7680037,7539802,7537096,7536744,7527392,7526158,7523489,7523381,7520444,7514077,7514064,7509796,7507133,7506248,7505199,7479840,3360448,2474787,2448137,1720553,1717985,1715789,1712644,1381360,1377810,1376329,1375232,1373482,1371879,1370874,1279971,1279499,9108086,8757502 1600050,1600047,1600045,1600046,2292419,2292425,2292422,2292423,2292424,2292414,2292426,2292421,2292170,2292181,2292430 3815 NM_000222,NM_001093772,NG_007456,AC006552,AC092545,CH471057,CS117948,L04143,S67773,S68472,U63834,X65959,X69301,AJ438313,BC071593,CN414753,DC376760,X06182 NP_000213,NP_001087241,EAX05460,EAX05461,CAJ15130,AAB29529,AAB29301,AAC50968,AAC50969,CAA46771,CAA46772,CAA49159,CAD27356,AAH71593,CAA29548,P10721,Q14708,Q14709,Q6IQ28,Q8TCG9,Q99662 Hs.479754 GDB:120117 C-Kit|CD117|PBT|SCFR protein-coding 737118 KITLG KIT ligand This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. 1299516,1580863 10884405,2208279,10049787,18166170,18083106,18042633,17952075,17855052,17687495,17556598,17410437,17289809,17257055,17191042,17175329,17115933,16905672,16780589,16709604,16647379,16616334,16479403,16213778,16181409,16015044,15866728,15781331,15728521,15576295,15526978,15526160,15504551,15504546,15489334,15475566,15474101,15378028,15355893,15337769,15308671,15217825,15145934,15140230,14985355,14702039,14691917,14662725,9239726,9113989,8626683,7680037,7545103,7529021,7528592,1724381,1707188,14654075,14628073,12829027,12753403,12666065,12637332,12556557,12481031,12477932,12445210,12429808,12421569,12393703,12393403,12297464,12123753,12062186,12002675,11999217,11920266,11905054,11159541,11124255,10901444,10880433,10320642,10224464,9889281,9590652,9371281,9269751,1383693,1381905,1379846,1378327,1375232,1427906 1299516 4254 NM_003994,NM_000899,AC024941,CH471054,AF119835,AF400436,AF400437,AK025245,AK055903,AK290319,AK293002,BC069733,BC069783,BC069797,BC074725,BC126166,BX474960,CR613468,CR749222,M59964,S42571 NP_003985,NP_000890,EAW97416,EAW97417,EAW97418,EAW97419,AAD22048,AAK92485,AAK92486,BAF83008,BAF85691,AAH69733,AAH69783,AAH69797,AAH74725,AAI26167,CAH18078,AAA85450,AAB22846,P21583 Hs.1048 GDB:128026 DKFZp686F2250|KL-1|Kitl|MGF|SCF|SF|SHEP7 protein-coding 732783 KL klotho This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. 1581727,1581721,1581730,1581732,1581723,1581599,1580863 9363890,11792841,17086194,12110410,9464267,18465812,18308935,18034366,17711860,17710231,17624411,17408468,17339340,17332731,17270470,17205327,17202338,17014852,16979405,16973281,16957409,16955217,16753056,16579981,16325773,16262891,16151675,15784727,15763166,15677572,15135068,15057823,14702039,12771308,12669274,12369777,11162628,11137391,11043382,10631108 1581727,1581721,1581730,1581732,1581723,1581599 9365 NM_004795,AB009667,AL161898,CH471075,Z84483,Z92540,AB005142,AK097349,CB988086 NP_004786,BAA24940,BAA24941,CAH71888,EAX08525,EAX08526,CAC94773,CAC94767,BAA23382,Q9UEF7 Hs.524953 GDB:9956081 1643403 BMD8_H protein-coding 1604985 KLB klotho beta 18259951,17711860,17627937,16358222,15489334,12477932 152831 NM_175737,AC021148,AC023135,CH471069,AB079373,BC033021,BC104871,BC113653 NP_783864,EAW92925,BAC56857,AAH33021,AAI04872,AAI13654,Q49AQ7,Q86Z14 Hs.90756 BKL|MGC142213 protein-coding 1352040 KLC1 kinesin light chain 1 Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature of some of these variants has not been determined. 1580863 11238452,17999208,17977659,17917076,17825299,17653041,17611642,17081983,16964243,16344560,16084724,15489334,15364413,15342556,12839500,12800201,12477932,12475239,10806115,9450959,8945637,8786116,8274221,17353931,15778465,11106729,9624122,11144355 3831 NM_005552,AF267530,AL049840,AL139300,CH471061,X69658,AF527736,AY180163,AY180164,AY180165,AY180166,NM_182923,AY180167,AY180168,AY180169,AY180170,AY244715,BC008881,BK000678,BK000679,BK000680,BK000681,BK000682,BK000683,BK000684,BK001164,BK001165,BK001166,BK001167,BK001168,BK001169,BK001170,BK001171,BK001172,BM988840,BP274336,CA433051,CB050619,CR607419,CR608303,BK001163,CR613465,CR618577,CR619184,DA501532,L04733 NP_891553,NP_005543,AAF72543,EAW81832,EAW81833,EAW81834,EAW81835,CAA49349,AAP85635,AAO62548,AAO62549,AAO62550,AAO62552,AAO62553,AAO62554,AAO62555,AAO64641,AAH08881,DAA01262,DAA01263,DAA01264,DAA01265,DAA01266,DAA01267,DAA01268,AAO62551,DAA01289,DAA01290,DAA01291,DAA01292,DAA01293,DAA01294,DAA01295,DAA01296,DAA01297,DAA01298,AAA16576,Q07866,Q13865,Q7RTP8,Q7RTQ0,Q7RTQ1,Q7RTQ2,Q7RTQ3,Q7RTQ4,Q7RTQ7,Q7RTQ8,Q7RTQ9,Q7Z5D5,ABM84182,ABM87584 Hs.20107,Hs.657678 GDB:304673 KLC|KNS2|KNS2A|MGC15245 protein-coding 1603973 KLC2 kinesin light chain 2 Kinesin is a molecular motor that generates ATP-dependent movement of vesicles and organelles along microtubules. Kinesin consists of 2 light chains, such as KLC2, and 2 heavy chains (see KIF5B; MIM 602809) in a 1:1 stoichiometric ratio (Rahman et al., 1998 [PubMed 9624122]).[supplied by OMIM] 14702039,17353931,11256614,17081983,16964243,16713569,16381901,15489336,15489334,15324660,15302935,12477932,11230166,11106729,11076863,9624122,15778465,15297625 64837 NM_022822,AP000759,AP001107,CH471076,AK022449,AK022907,AK094593,AK126489,AL136864,BC034373,CR604733,CR625790 NP_073733,EAW74507,BAB14039,BAB14302,CAB66798,AAH34373,Q0JSP6,Q9H0B6,CAL38468,ABM82064,ABM85243 Hs.280792 FLJ12387 protein-coding 1604744 KLC3 kinesin light chain 3 This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. 15489334,15464570,14702039,12594206,12477932,11319135,9624122,8786141,17353931,11969417,10491391,12427867,15324660 147700 NM_177417,NG_007067,CH471126,L47234,AK092481,BC025318,BC062998,BC073841,BC126418,BC133037,BF569806 NP_803136,EAW57338,EAW57339,EAW57340,AAL48324,BAC03901,AAH25318,AAH62998,AAH73841,AAI26419,AAI33038,Q6P597,Q8TB06 Hs.298079 KLC2|KLC2L|KLCt|KNS2B protein-coding 1315239 KLC4 kinesin light chain 4 17353931,16964243,16713569,15489334,15324660,14702039,14574404,12477932,8889548 89953 NM_201521,NM_138343,NM_201523,NM_201522,AL355385,CH471081,AK055293,AK056393,AK094102,AK127018,AK127894,AL162078,BC012357,BC080637,BC103727,BQ688778,BX640717,CA450484 NP_958929,NP_612352,NP_958931,NP_958930,CAI13781,EAX04146,EAX04147,EAX04148,EAX04149,BAC86788,BAC87179,CAB82411,AAH12357,AAH80637,AAI03728,CAE45836,Q96EG6,Q9NSK0,ABM83157,ABM86358 Hs.655123 KNSL8|MGC111777|bA387M24.3 kinesin-like 8 protein-coding 1319723 KLF1 Kruppel-like factor 1 (erythroid) 1580863 8924208,9778250,18329016,18195733,16858401,16184297,15937668,15057824,14976188,12556498,12477932,12072445,11844803,11259590,11018012,9722526,9119377,7753194 10661 NM_006563,AC020934,AD000092,CH471106,U37106,BC033580,BC040000,U65404 NP_006554,AAB51173,EAW84323,AAC50562,AAH33580,AAC51108,Q13351,Q6PIJ5 Hs.37860 GDB:6053718 EKLF protein-coding 1348365 KLF10 Kruppel-like factor 10 10976766,9748269,10816551,8532536,17931948,17659279,17377371,16964243,15489334,15218362,15087465,12804117,12477932,12173049,12072443,12065093,9721211,9443078,9153278,8584037 7071 NM_001032282,NM_005655,AF050110,AP002851,CH471060,BC011538,BC095399,BT006634,CR598827,S81439,U21847 NP_001027453,NP_005646,AAC34293,AAC34294,EAW91850,AAH11538,AAH95399,AAP35280,AAB36088,AAC50340,O75411,Q13118 Hs.435001 EGRA|TIEG|TIEG1 protein-coding 1605424 KLF11 Kruppel-like factor 11 9748269,18199129,17479246,17252542,17130512,17114344,16713569,12006497,11827452,11438660,11087666,10207080,15774581,15531587,15489334,15300592,15024015,14702039,12477932 8462 NM_003597,AC104794,CH471053,CQ855663,CQ868162,AF028008,AF272830,AI183650,AI755210,AJ275989,AK002186,AK289816,BC063286,BC069383,BC074922,BM548792,BQ881155,CB990375,CR591795 NP_003588,AAX93098,EAX00972,CAH23425,CAH33945,AAC61880,AAF75793,CAC06699,BAF82505,AAH63286,AAH69383,AAH74922,O14901,Q53QU8 Hs.12229,Hs.694968 FKLF|FKLF1|MODY7|TIEG2|Tieg3 protein-coding 1319416 KLF12 Kruppel-like factor 12 Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10704285,16615998,16344560,16189514,15937668,15489334,15057823,14702039,12477932,11935316,11433524,11406275,11373277,11042152,9858544 11278 NM_007249,AF312872,AL138713,AL139036,AL158054,AL159972,AL160032,AL356319,CH471093,CQ834616,AF113122,AF161471,AF330041,AI949908,AJ243274,AK094419,AK096503,AK126412,AK291397,BC019680,BF515580,DB125574 NP_009180,AAK12082,EAW80528,EAW80529,CAH05523,AAF14863,AAF29086,AAL37478,CAB46982,BAF84086,AAH19680,Q5VZM8,Q8WWI3,Q9Y4X4,ABM82699,ABM85883 Hs.373857,Hs.592500 GDB:11500841 AP-2rep|AP2REP|HSPC122 protein-coding 1344641 KLF13 Kruppel-like factor 13 KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM] 1580863 10023774,17513757,18056793,17074812,16023392,15937668,15716005,15489334,12477932,12093895,12050170,12036432,11748222,11477107,11087666,10828046,10415854 51621 NM_015995,AC012236,AC104759,CH471216,AF132599,AF150628,AL390127,BC010438,BC012741,BC012782,BC013946,BC035503,BC064552,BF797908,BM477172 NP_057079,EAW61265,AAD26864,AAD34020,AAH10438,AAH12741,AAH13946,Q9Y2Y9 Hs.525752 GDB:10796968 BTEB3|FKLF2|NSLP1|RFLAT-1|RFLAT1 protein-coding 1343776 KLF14 Kruppel-like factor 14 1580863 17480121,15820306,12690205 136259 NM_138693,AC009274,CH236950,CH471070,DQ534756,AF490374,DQ534757 NP_619638,EAL24083,EAW83773,ABF82392,AAM08349,ABF82393,Q8TD94 Hs.125240 BTEB5 protein-coding 737261 KLF15 Kruppel-like factor 15 1580863 17688680,17438289,15963234,15937668,15489334,12477932,11473619,10982849 28999 NM_014079,AC063919,CH471052,AB029254,BC036733 NP_054798,EAW79367,BAA88561,AAH36733,Q9UIH9,ABM81837,ABM84988 Hs.272215 GDB:11500546 KKLF protein-coding 1314308 KLF16 Kruppel-like factor 16 1580863 17688680,17480121,15937668,12036432,11438660,11390978 83855 NM_031918,AC012615,CH471139,AF327440,AK025941,BE243730,BU594659,CR985546,CV809534 NP_114124,EAW69448,EAW69449,AAK15698,Q9BXK1,AAI48408,AAI48794 Hs.136280 GDB:11504369 BTEB4|DRRF|NSLP2 protein-coding 1344784 KLF17 Kruppel-like factor 17 16710414,16460907,16344560,15489334,14702039,12477932,12351194 128209 NM_173484,AL356653,AL359839,CH471059,AK097479,BC035408,BC049844,DB046781 NP_775755,CAI15911,EAX07052,EAX07053,BAC05070,AAH49844,Q5JT82 Hs.567674 FLJ40160|RP4-675G8.1|ZNF393|Zfp393 protein-coding 1351701 KLF2 Kruppel-like factor 2 (lung) 1580863 17927807,17688680,17244683,16988269,16617118,16571724,16542423,16466697,16455954,16341264,16116194,16043642,16023392,15980434,15947087,15937668,15878865,15834135,15735666,15718498,15607822,15136591,12477932,12426306,12176889,11750135,11375995,10458913,10217429,9373149,8125298,7565748 10365 NM_016270,AC020917,AF123344,CH471106,AF134053,AF205849,AK225820,BC035342,BC071983,BQ581981,CA950627 NP_057354,AAD25076,EAW84541,AAD55891,AAF13295,AAH35342,AAH71983,Q8IUN4,Q9Y5W3 Hs.107740 GDB:9839144 LKLF protein-coding 1343244 KLF3 Kruppel-like factor 3 (basic) 1580863 10582345,17081983,16344560,15937668,15684403,15489334,12812068,12477932,9724649,8889548 51274 NM_016531,AC021860,CH471069,AB024523,AF285837,BC030662,BC051687,BU689914,DB246277 NP_057615,EAW92895,EAW92896,BAA92271,AAK27329,AAH30662,AAH51687,P57682 Hs.298658 GDB:11506173 BKLF|MGC48279 protein-coding 1342656 KLF4 Kruppel-like factor 4 (gut) 1580863 9422764,8940147,8702718,18157115,18056793,17908689,17762869,17688680,17671182,17614846,17508399,17339326,17135299,17017123,17016435,16632465,16507986,16372018,15937668,15806166,15805274,15740636,15674344,15561714,15489334,15102675,15051827,15031282,14724568,14702039,14670968,14627709,12919939,12901861,12853980,12776194,12581631,12477932,12439907,12427745,12297499,12087155,11521200,10749849,10666450,10556311,10431239,10392904,9651398,9443972,9428642,9218496,16189514,12034813,10802067 9314 NM_004235,AL359552,AL360218,CH471105,DQ658241,AF022184,AF105036,AK095134,AK095894,BC029923,BC030811,CR599303,U70663 NP_004226,CAI12253,CAI12254,CAI12255,CAI12256,EAW59019,EAW59020,EAW59021,ABG25917,AAC03462,AAD42165,AAH29923,AAH30811,AAB48399,O43474,Q5T3J6,Q8N717,ABM82719,ABM85901 Hs.376206 GDB:9955988 EZF|GKLF protein-coding 1345927 KLF5 Kruppel-like factor 5 (intestinal) This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. Since the protein localizes to the nucleus and binds the epidermal growth factor response element, it is thought to be a transcription factor. 1581748,1304323,1304288,1581746,1580863,1581749 15937668,15740636,15735697,15668237,15581624,15489334,15077182,14726538,14612398,14587307,14573617,12901861,12682370,12661032,12576331,12477932,12242654,12113473,12101409,12087155,11152667,11076828,10572182,9973612,9089417,8479902,18226501,18054006,18039846,17688680,17603560,17508399,17430902,17320083,17178721,16638850,16595680,16500892,16341264,16223724,16102754,16102021,16054042,16023392 1581748,1304323,1304288,1581746,1581749 688 AF184924,AL354720,CH471093,AB030824,AF132818,AF287272,AK131397,BC007695,BC014302,BC042131,BT006641,D14520,EF208215,NM_001730 NP_001721,AAG23126,CAI14871,EAW80524,EAW80525,EAW80526,BAA96461,AAF18307,AAF88068,AAH07695,AAH42131,AAP35287,BAA03393,ABM97548,Q13887,Q5T6X2,Q9HBZ3,ABM92198,ABM84666 Hs.508234 GDB:141538 BTEB2|CKLF|IKLF protein-coding 1349381 KLF6 Kruppel-like factor 6 This gene encodes a nuclear protein that has three zinc fingers at the end of its C-terminal domain, a serine/threonine-rich central region, and an acidic domain lying within the N-terminal region. The zinc fingers of this protein are responsible for the specific DNA binding with the guanine-rich core promoter elements. The central region might be involved in activation or posttranslational regulatory pathways, and the acidic N-terminal domain might play an important role in the process of transcriptional activation. It is capable of activating transcription approximately 4-fold either on homologous or heterologous promoters. The DNA binding and transcriptional activity of this protein, in conjunction with its expression pattern, suggests that this protein may participate in the regulation and/or maintenance of the basal expression of pregnancy-specific glycoprotein genes and possibly other TATA box-less genes. Two transcript variants encoding the same protein have been found for this gene. 17071613,16988269,16972326,16872311,16856969,16778100,16702959,16598737,16500425,16431954,16189514,16054710,16044160,15937668,15917248,15824733,15735005,15489334,15486921,15378003,15247715,15164054,15131018,15067324,15064720,15057748,12794452,12740910,12651626,12651597,12590140,12508640,12477932,12433697,11752579,10802067,9685731,9503030,15172998,9083102,9689109,9000136,18250346,18190240,18174288,18053161,17893646,17663506,17621627,17514651,17347668,17347589,17223258,17143513,17125911,17113081 1316 NM_001300,AF284036,AL450322,AL513303,CH471072,AB017493,AF001461,AI355637,BC000311,BC004301,BM544849,BT006778,BX537374,CD742988,U44975,U51869 NP_001291,AAM73548,CAH71010,CAH74049,CAH74050,EAW86476,EAW86477,EAW86478,EAW86479,BAA33050,AAC39929,AAH00311,AAP35424,CAD97616,AAC23699,AAB94792,AAB94793,O43838,Q7Z3W8,Q99612,ABM81678,O43839 Hs.4055,Hs.709396 BCD1|COPEB|CPBP|DKFZp686N0199|GBF|PAC1|ST12|ZF9 protein-coding 1314410 KLF7 Kruppel-like factor 7 (ubiquitous) 1580863 9774444,17164435,16339272,15937668,14729953,14702039,14644156,12477932 8609 NM_003709,AC007879,AC008062,CH471063,AB015132,AK027371,BC012919,BX537890,CR542112 NP_003700,AAY15081,AAX88867,EAW70400,EAW70401,EAW70402,EAW70403,BAA33521,AAH12919,CAD97885,CAG46909,O75840,Q4ZG79,Q53TP3,Q7Z3H8,Q96E51 Hs.471221 GDB:9956023 UKLF protein-coding 1348117 KLF8 Kruppel-like factor 8 1580863 17671186,17224162,16832343,16023392,15937668,15772651,15489334,12820964,12477932,11836360,10756197,12556451 11279 NM_007250,AL050309,BX322609,CH471154,BC031355,BC063276,BC105130,BC112109,BX641066,AB209004 NP_009181,EAW93230,EAW93231,EAW93232,AAH31355,AAI05131,AAI12110,CAE46033,O95600,Q05BZ3,BAD92241,ABZ92303 Hs.646614 GDB:9957632 BKLF3|DKFZp686O08126|DXS741|MGC138314|ZNF741 protein-coding 1350312 KLF9 Kruppel-like factor 9 The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. 70784 1356762,8051167,18224337,18056793,17717078,16384861,15489334,15164053,12672823,12477932,8291025,8269949,8257632,7775404,11438660 70784 687 NM_001206,AL162390,CH471089,CQ834782,AI458659,AI693223,BC069431,BC074879,BC074880,BE221978,D31716,S72504 NP_001197,EAW62503,EAW62504,CAH05606,AAH69431,AAH74879,AAH74880,BAA06524,AAD14110,Q13886,ABZ92418 Hs.150557,Hs.602267 BTEB|BTEB1 protein-coding 1317857 KLHDC1 kelch domain containing 1 16964437,15489334,14702039,12477932 122773 BC101597,NM_172193,AL591767,CH471078,AF111806,AK098735,AK127202,AL833437,BC031270,BC101595 AAI01596,AAI01598,Q5U642,Q8N7A1,NP_751943,EAW65752,EAW65753,AAL39008,BAC05398 Hs.509258 MGC126644|MGC126646|MST025 protein-coding 1315157 KLHDC2 kelch domain containing 2 17353931,16964437,15489334,14702039,12477932,12097419,11384994,15778465 23588 NM_014315,AL591767,CH471078,AF113131,AF244137,AK001771,AK056298,BC002335,BC024192,BX161429,CD356831,CF994676,CR457205,CR591808,CR592763,CR592955,CR594220,CR594509,CR597789,CR605309,CR609630,CR614613,CR617895,CR618882,CR622573,CR625292 NP_055130,EAW65749,EAW65750,AAD21038,AAF66246,BAA91898,AAH02335,AAH24192,CAD61901,CAG33486,Q9Y2U9,ABM86302,ABW03800 Hs.509264 HCLP-1|LCP protein-coding 1316101 KLHDC3 kelch domain containing 3 The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2 (RAG2), a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to express specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, which suggests that this gene may be involved in meiotic recombination. 12606021,12482870,15489334,14702039,14574404,12755172,12477932,12444059,17353931 116138 BC041793,BC045612,CR593356,CR598438,CR599856,CR600425,CR602982,CR603335,CR605914,CR608943,CR611186,CR612447,CR614507,CR620802,CR622022,AL136304,CH471081,AB055925,AK097719,AK290384,BC000295,BC001789,BC001793,BC007296,BC009460,BC012987,BC021546,NM_057161 AAH41793,AAH45612,Q6PJQ3,Q8IVW5,Q8N7S8,Q96GH7,Q9BQ90,NP_476502,CAI19796,EAX04136,EAX04137,EAX04138,EAX04139,EAX04140,EAX04141,EAX04142,BAB63257,BAC05149,BAF83073,AAH00295,AAH01789,AAH01793,AAH07296,AAH09460,AAH21546 Hs.412468 PEAS|RP1-20C7.3|dJ20C7.3|hPEAS protein-coding 1322601 KLHDC4 kelch domain containing 4 17081983,15489334,15302935,14702039,12477932 54758 NM_017566,AC010536,CH471114,AK001742,AK023986,AK024496,AK057211,AK097097,AK098630,AL133107,AY251274,BC001044,BC011680,BC022969,CR600527 NP_060036,EAW95376,EAW95377,EAW95378,EAW95379,EAW95380,EAW95381,EAW95382,EAW95383,BAB14756,BAB15786,CAB61413,AAP04412,AAH01044,AAH11680,AAH22969,Q86VH3,Q8TBB5,Q9H7I4,Q9H863,Q9UF94 Hs.123450 DKFZp434G0522|FLJ00104 protein-coding 1348247 KLHDC5 kelch domain containing 5 16713569,16541075,16189514,15489334,14702039,12477932,10718198 57542 NM_020782,AC009511,CH471094,AA687307,AB037761,AK002197,AK095405,AL118635,AL702640,BC028742,BC108669,BC137116,BC137117,BQ218827,BX497104,CA771366,CD521625,CR593861,CR602758,CR621766,CR623164,T83155 NP_065833,EAW96570,EAW96571,BAA92578,AAH28742,AAI08670,AAI37117,AAI37118,Q9P2K6,ABZ92363 Hs.505104 KIAA1340|MGC131714 protein-coding 1603549 KLHDC6 kelch domain containing 6 16381901,15489336,12477932,11076863 166348 NM_207335,AC011311,CH471052,AK128176,BC041365,BX537865 NP_997218,EAW79328,BAC87309,AAH41365,CAD97868,Q3ZCT8,Q7Z665,CAL38186,CAL38334 Hs.132087 DKFZp779E2271|FLJ46299 protein-coding 1606164 KLHDC7A kelch domain containing 7A 14702039,12477932 127707 NM_152375,AL591896,CH471134,AK096072,BC101498,BC101500,BC151205 NP_689588,EAW94851,BAC04695,AAI01499,AAI01501,AAI51206,Q5VTJ3 Hs.406913,Hs.710799 FLJ38753|RP11-422P22.2 protein-coding 1602443 KLHDC7B kelch domain containing 7B 15489334,12477932 113730 NM_138433,CH471138,BC009980 NP_612442,EAW73566,AAH09980,Q96G42 Hs.592211 MGC16635 protein-coding 1605377 KLHDC8A kelch domain containing 8A 15489334,14702039,12477932 55220 NM_018203,AC098933,AC098936,CH471067,AK001610,AK096590,BC036076,CR593027 NP_060673,EAW91550,EAW91551,EAW91552,EAW91553,BAA91787,Q8IYD2,AAH36076 Hs.10414 FLJ10748 protein-coding 1602285 KLHDC8B kelch domain containing 8B 15498874,15489334,14702039,12477932 200942 NM_173546,AC135506,CH471055,CS072427,AK002164,AY129011,BC013110,BC039083 NP_775817,EAW64961,EAW64962,EAW64963,CAI93565,AAM98754,AAH13110,AAH39083,Q8IXV7,Q96DZ8 Hs.13781 FLJ11302|MGC35097 protein-coding 1605002 KLHDC9 kelch domain containing 9 15159402,14702039,12477932,16189514 126823 NM_001007255,NM_152366,NM_001007256,AL591806,CH471121,AK093268,AY601914,BC022077,BC032482,BC066896,BI549017 NP_001007256,NP_689579,NP_001007257,CAI15377,EAW52659,EAW52660,EAW52661,EAW52662,EAW52663,EAW52664,BAC04114,AAT09158,AAH22077,AAH32482,AAH66896,Q8NEP7 Hs.507290 KARCA1|MGC33338|RP11-544M22.9 protein-coding 1316652 KLHL1 kelch-like 1 (Drosophila) 1580863 10888605,17289272,16982692,15761153,15057823,14702039,12477932,10819331 57626 NM_020866,AF252279,AF393973,AL160391,AL162378,AL353738,AL356384,AL590554,AL596302,CH471093,AB040923,AF252283,AK054609,AK291435,BC022460 Q9NR64,NP_065917,AAF81716,AAK69769,EAW80503,BAA96014,AAF81719,BAF84124,AAH22460,Q8TBJ7,Q96RF4,ABM81824,ABM84978 Hs.508201 GDB:10797040 FLJ30047|KIAA1490|MRP2 protein-coding 1344199 KLHL10 kelch-like 10 (Drosophila) 12477932,17047026,15489334,15342556,15136734,14702039 317719 NM_152467,AC091172,CH471152,AK057224,AY495339,BC067753,BP371285 NP_689680,EAW60774,BAB71387,AAS91792,Q6JEL2,AAI60168 Hs.127510 GDB:11510082 FLJ32662 protein-coding 1315423 KLHL11 kelch-like 11 (Drosophila) 1580863 15489334,14702039,12477932 55175 NM_018143,AC091172,CH471152,AK001434,BC034470 NP_060613,EAW60775,EAW60776,BAA91689,AAH34470,Q9NVR0 Hs.592134 GDB:11510083 FLJ10572 protein-coding 1346633 KLHL12 kelch-like 12 (Drosophila) 737633 16189514,16713569,16547521,16108817,15489334,15383316,14702039,12477932,9373149,8125298 737633 59349 NM_021633,AC096632,CH471067,AF190900,AF306687,AF306688,AF306689,AK024412,AK027656,AK130662,AK223072,BC003183,BC004175 NP_067646,EAW91444,EAW91445,EAW91446,EAW91447,EAW91448,AAG17175,BAB14914,BAB55271,BAD96792,AAH03183,AAH04175,Q53G59,Q9H7R2,ABZ92369 Hs.706793 C3IP1|DKIR|FLJ27152 protein-coding 1342476 KLHL13 kelch-like 13 (Drosophila) 1580863 15772651,15489334,14702039,12477932,10718198 90293 NM_033495,AC006963,AC006968,CH471161,AB037730,AK001124,AK122724,AK125356,AL591986,BC008729,BC064576,CR614631 NP_277030,AAF03529,EAW89898,EAW89899,EAW89900,BAA92547,BAA91514,CAC41335,AAH08729,AAH64576,Q96HC9,Q9NW71,Q9P2N7,ABZ92079 Hs.348262 BKLHD2|FLJ10262|KIAA1309|MGC74791 protein-coding 1321388 KLHL14 kelch-like 14 (Drosophila) 737633,1580863 12477932,10718198 737633 57565 NM_020805,AC012123,AC025887,CH471088,AB037805,BC021267,CR604173 NP_065856,EAX01294,EAX01295,EAX01296,BAA92622,AAH21267,Q8WU41,Q9P2G3 Hs.446164 protein-coding 1351915 KLHL15 kelch-like 15 (Drosophila) 1580863 15489334,14702039,12477932,11214970 80311 NM_030624,AC079169,AC079376,CH471074,AB051464,AK057298,AL834313,BC015415,BC109058,BC109059 NP_085127,EAW99007,EAW99008,BAB21768,BAB71415,CAD38983,AAH15415,AAI09059,AAI09060,Q96M94 Hs.495854 MGC126148|MGC126149 protein-coding 1348319 KLHL17 kelch-like 17 (Drosophila) 625502 16710414,12477932,12063253 625502 339451 NM_198317,AL645608,CH471183,AK127585,AY423763,BC033192,BC045768,BC105742 NP_938073,CAI15569,EAW56300,EAW56301,EAW56302,EAW56303,AAR03710,AAH45768,AAI05743,Q0VGE6,Q6TDP4,Q86XA8,AAI66618 Hs.109212 RP11-54O7.6 protein-coding 1351976 KLHL18 kelch-like 18 (Drosophila) 737633,1580863 16381901,15489336,15489334,14702039,12477932,11230166,11076863,9872452 737633 23276 NM_025010,AC104447,CH471055,AB018338,AB062478,AK001337,AK023765,AK291477,AY714879,BC016388,BC032620,BX537953 NP_079286,EAW64818,EAW64819,EAW64820,EAW64821,BAA34515,BAB93503,BAB14670,BAF84166,AAU21222,AAH16388,AAH32620,CAD97920,O94889,Q0JS72,Q647K1,Q6PJF0,Q7Z3E8,Q9H8E7,CAL38147,CAL38642 Hs.517946 FLJ13703|KIAA0795 protein-coding 1314975 KLHL2 kelch-like 2, Mayven (Drosophila) 1580863 10397770,16189514,15735724,15489334,12477932 11275 NM_007246,AC012504,AC055120,AC107059,CH471056,AB209727,AF059569,AK025289,BC022503,BC036468,BX647776 NP_009177,EAX04822,EAX04823,EAX04824,EAX04825,BAD92964,AAC67502,AAH22503,AAH36468,O95198,Q59ET4,ABM84564,ABM86514 Hs.388668 GDB:9957620 ABP-KELCH|MAV|MAYVEN protein-coding 1343100 KLHL20 kelch-like 20 (Drosophila) The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. 10888605,12493773,17395875,16710414,15489334,14702039,14668487,12477932,10603472 27252 NM_014458,AL109921,BX248409,CH471067,AB026190,AJ844466,AK001430,BC005253,BC063418,CB143306 NP_055273,CAI20377,EAW90952,EAW90953,EAW90954,EAW90955,BAA77027,CAH59617,AAH05253,AAH63418,Q5ZF45,Q9BS75,Q9Y2M5 Hs.495035 KHLHX|KLEIP|KLHLX|RP3-383J4.3 protein-coding 1351698 KLHL21 kelch-like 21 (Drosophila) 1580863 16710414,16303743,14702039,12477932,9455484 9903 NM_014851,AL591866,CH471130,AB007938,AK057164,AK075305,AK090472,BC034039,BC064980,BC091648,BC111766,CR593250 NP_055666,CAI16080,CAI16082,EAW71558,EAW71559,BAA32314,BAC03453,AAH34039,AAH91648,AAI11767,Q2NKK7,Q9UJP4 Hs.7764 KIAA0469|MGC99635 protein-coding 1602999 KLHL22 kelch-like 22 (Drosophila) 15489334,15461802,14702039,12477932,9373149,8125298 84861 NM_032775,AC007731,CH471176,AK024369,AK027266,AK222850,AK290669,BC015923,CR456352,CR593866,CR601347,CR610643,CR610654,CR625075 NP_116164,EAX02961,EAX02962,EAX02963,EAX02964,BAB55007,BAD96570,BAF83358,AAH15923,CAG30238,Q53GT1,CAK54493,CAK54792 Hs.517419 KELCHL protein-coding 1605864 KLHL23 kelch-like 23 (Drosophila) 16765319,15489334,14702039,12477932,10737800 151230 NM_144711,AC009967,AC016772,CH471058,AK090653,AK095131,BC010437,BC016950,BQ343827,R08525 NP_653312,EAX11261,BAC03497,BAC04490,AAH10437,AAH16950,Q8NBE8,Q96AM2 Hs.655150 DITHP|FLJ37812|MGC22679|MGC2610 protein-coding 1603221 KLHL24 kelch-like 24 (Drosophila) 17254796,14702039 54800 AC068769,CH471052,CQ859794,AK000066,AK024270,AK026326,AK098662,AY422472,BC142993,BX648466,BX648812,NM_017644,DQ925701 NP_060114,EAW78319,EAW78320,CAH25947,BAA90921,BAB15447,AAR13703,AAI42994,CAI46031,CAI46002,ABI96896,Q6TFL4,AAI43061 Hs.407709 DRE1|FLJ25796|KRIP6 protein-coding 1605054 KLHL25 kelch-like 25 (Drosophila) 11256614,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863 64410 NM_022480,AC021739,CH471101,AK022649,AK056663,AK092231,AL109693,AL136796,AY764034,BC028100,DA337553,DB063745 NP_071925,EAX01979,BAB14155,CAB66730,AAV51405,AAH28100,Q9H0H3,Q9H9R6,CAL37895,CAL38651,ABZ92048 Hs.498371 ENC-2|ENC2|FLJ12587 protein-coding 1602473 KLHL26 kelch-like 26 (Drosophila) 16713569,15489334,14702039,12477932,9373149,8125298 55295 NM_018316,AC004476,AC008998,CH471106,AK001940,AK222656,BC026319 NP_060786,EAW84728,EAW84729,BAA91990,BAD96376,AAH26319,Q53HC5 Hs.250632 FLJ11078 protein-coding 1322718 KLHL28 kelch-like 28 (Drosophila) 1580863 16344560,15489334,14702039,12477932,9373149 54813 NM_017658,AL049870,CH471078,AK000088,AK225183,AK225211,AK289855,AL713035,BC057794,BC121009,BC121010,BM998529,CA433205,DA247273,DA529695 NP_060128,EAW65792,EAW65793,EAW65794,EAW65795,BAA90937,BAF82544,AAI21010,AAI21011,Q9NXS3 Hs.653206 BTBD5|FLJ20081 btb (poz) domain containing 5 protein-coding 1605890 KLHL29 kelch-like 29 (Drosophila) 15489334,14702039,12477932,11572484 114818 XM_001717454,XM_940375,XM_001717533,AC009242,AC011239,AC012506,AB067508,AK024168,AK094600,AL834515,BC013982,BC015667,BC069271 XP_001717506,XP_945468,XP_001717585,AAY24259,AAY14852,BAB67814,BAB14844,CAD39171,AAH13982,AAH15667,AAH69271,Q53T86,Q53TJ3,Q6NT65,Q96CT2,Q9H7X9 Hs.130593 KBTBD9 protein-coding 1346820 KLHL3 kelch-like 3 (Drosophila) 1580863 10843806,16344560,15372022,14702039,12477932,11259487,10734137,10574461 26249 NM_017415,AC004021,AC092318,AC106775,CH471062,AB032955,AF208068,AF208069,AF208070,BC034035,BC045683,CR605632,CR625476,DA083147 NP_059111,AAB97127,EAW62183,EAW62184,BAA86443,AAF20938,AAF20939,AAF20995,AAH34035,AAH45683,Q49A42,Q8N4I8,Q9UH77 Hs.655084 GDB:10797042 FLJ40871|KIAA1129|MGC44594 protein-coding 1606872 KLHL30 kelch-like 30 (Drosophila) 12477932 377007 Q0D2K2 NM_198582,AC016757,CH471063,AK125364,BC103703,BC104749,BC105696 NP_940984,EAW71141,BAC86148,AAI05697,Q0D2K2 Hs.591595 FLJ43374 protein-coding 1348720 KLHL31 kelch-like 31 (Drosophila) 15302408,14702039,14574404 401265 NM_001003760,AL157773,CH471081,EF633513 NP_001003760,CAC16284,EAX04428,ABR23528,Q8N269,Q9H511 Hs.131064 BKLHD6|KBTBD1|KLHL|bA345L23.2 kelch repeat and btb (poz) domain containing 1 protein-coding 1321228 KLHL32 kelch-like 32 (Drosophila) 1580863 16344560,14702039,12477932,11572484 114792 NM_052904,AL023656,AL033375,AL356958,CH471051,AB067487,AF351610,AK055292,BC031830,BC047491,BC071627,DA296671,DC314842 NP_443136,CAI20427,CAI20428,CAI19823,CAI19824,CAI21654,EAW48497,EAW48498,EAW48499,EAW48500,BAB67793,AAN76510,BAB70899,AAH31830,AAH47491,AAH71627,Q49A20,Q5THT0,Q6IQ08,Q86YJ8,Q8IXH0,Q96NJ5 Hs.45056 BKLHD5|KIAA1900|MGC51280|MGC87753|RP1-39B17.1|UG0030H05|dJ21F7.1 protein-coding 1642111 KLHL33 kelch-like 33 (Drosophila) 123103 XM_001716896,XM_001126895,XM_001714708,XM_939570,NM_001109997,AL355075,CH471078,BC146951,BC146954 XP_001716948,XP_001126895,XP_001714760,XP_944663,NP_001103467,EAW66474,AAI46952,AAI46955,A6NCF5 Hs.556014 protein-coding 1603872 KLHL34 kelch-like 34 (Drosophila) 15772651,15489334,14702039,12477932 257240 NM_153270,AL772392,CH471074,AK092279,BC109031 NP_695002,CAI40764,EAW98979,BAC03848,AAI09032,Q8N239 Hs.448572 FLJ34960|MGC125650|RP11-450P7.3 protein-coding 1349490 KLHL4 kelch-like 4 (Drosophila) This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding domains. However, the specific function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 1580863 10888605,15772651,14702039,12477932,11499681,11401425,11214970 56062 NM_019117,NM_057162,AL035424,AL121884,CH471104,Z95400,AB051474,AF284765,AF284766,AK022715,AK023057,AK056457,AL831868,AL832514,BC142652,BC146677,BC161675 NP_061990,NP_476503,EAW98552,EAW98553,BAB21778,AAK49441,AAK49442,BAB14199,BAB14382,CAD38558,CAI46201,AAI42653,AAI46678,AAI61675,Q5H947,Q8N3U5,Q9C0H6,Q9H955 Hs.49075 GDB:10796365 DKELCHL|KHL4|KIAA1687 protein-coding 1320120 KLHL5 kelch-like 5 (Drosophila) 1580863 15815621,15489334,14702039,14672410,12477932,11590829 51088 NM_001007075,NM_015990,NM_199039,AC079921,CH471069,AB208820,AF272976,AK001698,AK001836,AK002174,AK289785,AY172948,BC010867,BC048262,BC053860,BC058884,BC081562,BQ438207,BX478676 Q59HD9,Q642I3,Q6PD75,Q6Y881,Q7Z6D5,Q96PQ7,NP_001007076,NP_057074,NP_950240,EAW92908,EAW92909,EAW92910,EAW92911,EAW92912,EAW92913,EAW92914,BAD92057,AAL08584,BAA91845,BAA91933,BAA92121,BAF82474,AAO39710,AAH48262,AAH53860,AAH58884,AAH81562 Hs.272251 GDB:10796495 protein-coding 1316764 KLHL6 kelch-like 6 (Drosophila) 1580863 15489334,15342556,14702039,12617994,12477932,11214971 89857 NM_130446,AC069211,AC092960,CH471052,AF441792,AK024439,AK097125,AL833667,BC032348,BP284594,BX648370 NP_569713,EAW78323,EAW78324,EAW78325,EAW78326,AAL35594,BAB15729,BAC04957,AAH32348,Q8WZ60,Q9H7N9,ABM85714,ABW03726 Hs.659147 GDB:11506175 FLJ00029 protein-coding 1313665 KLHL7 kelch-like 7 (Drosophila) 1580863 11256614,16918702,15489334,14702039,12853948,12477932,11230166,9847074 55975 NM_018846,NM_001031710,AC005082,AC006039,AC073992,CH236948,CH471073,AF111113,AK056390,AK290479,AL136597,AY028802,BC009555,BC039585,DC370850,EF560731 NP_061334,NP_001026880,AAO21916,EAL24261,EAW93770,EAW93771,EAW93772,EAW93773,EAW93774,AAF27196,BAB71175,BAF83168,CAB66532,AAK29099,AAH09555,AAH39585,ABQ59041,Q7Z765,Q8IWW9,Q8IXQ5,Q96MV2,Q9UDQ9 Hs.654817 GDB:11510348 KLHL6|SBBI26 protein-coding 1312275 KLHL8 kelch-like 8 (Drosophila) 1580863 16713569,16381901,15489336,15489334,12477932,12168954,11230166,11076863,10718198 57563 NM_020803,AC092658,CH471057,AB037799,AK128827,BC041370,BC041384,BC041901,BX538173,BX640727,BX640744,BX647454,BX648367,CR625767,CR749265 NP_065854,EAX05982,EAX05983,EAX05984,BAA92616,AAH41384,AAH41901,CAD98048,CAE45843,CAE45855,CAH18121,Q49A95,Q53XA3,Q68DU9,Q6N018,Q7Z330,Q9P2G9,CAL38560 Hs.106601 GDB:11508407 FLJ46304|KIAA1378 protein-coding 1347061 KLHL9 kelch-like 9 (Drosophila) 1580863 14702039,12477932,10718198,9847074 55958 AL162420,CH471071,AB037775,AK022805,AK023630,AK025468,AK091715,AL713669,AY172949,BC039133,BC052776,BC064958,BC105008,BC113513,BX538121,NM_018847,CR622338,DR978657 NP_061335,CAH73191,EAW58614,BAA92592,BAB14623,CAD28475,AAO39718,AAH39133,AAI05009,AAI13514,CAD98027,Q5JC44,Q5VZ54,Q7Z350,Q9H8J3,Q9P2J3 Hs.522029,Hs.701778,Hs.710126 GDB:11508993 FLJ21815|RP11-380P16.6 protein-coding 1349866 KLK1 kallikrein 1 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. 1581753,1581751,1581752,1641802,1641805,1641800,1641797,1641812,1580863,1641794,1358144,1641806,1641795,1641799 17050061,16957554,16800724,16800723,16465461,16129698,15905889,15855348,15765151,15662224,15651049,15611141,15544850,15489334,15364809,15167446,15086490,14988406,14660481,12887060,12670744,12581867,12492488,12477932,12372819,11913965,11912256,11849458,11727832,11258672,11130770,11054574,11016932,11006094,10862973,9368023,2686621,18359858,18283336,18182238,17804733,17762646,17761919,17699431,17671125,17158887,9276160,7916636,7749374,7733886,7492318,3853975,3635530,3163150,3004571,2898948,2666327,1783409,1691151,1684954,1385301,393608,16189514 1581753,1581751,1581752,1641802,1641805,1641800,1641797,1641812,1641794,1358144,1641806,1641795,1641799 3816 NM_002257,AC010325,AF243527,AF277050,AY094609,CH471135,L10038,M33105,M33109,AY429508,AY703451,BC005313,BT007253,M12706,M25629,S77952,X13561 NP_002248,AAG33353,AAF86333,AAM11874,EAW71912,EAW71913,EAW71914,AAA36135,AAA59455,AAR10467,AAU12569,AAH05313,AAP35917,AAA59201,AAA36136,AAB34120,CAA31912,P06870,Q07277,Q66US9,Q6T776,Q86U61,Q9UE84,ABM83998,ABM87327 Hs.123107 GDB:120118 KLKR|Klk6|hK1 protein-coding 1606032 KLK10 kallikrein-related peptidase 10 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. 16800732,16800724,16800723,16647913,16341674,16254462,16103744,15489334,15057824,14972646,14696124,12970725,12477932,8764136,17937626,17182177,16928223,16800740,16800735,12185203,12087468,11920956,11705853,11054574,10969073,10675891,9809976,9647736,9533035,8889548 5655 NM_001077500,NM_002776,NM_145888,AC011473,AF055481,AF243527,AY561634,CH471135,AF024605,AK292365,AY561635,BC002710,BM830577,BU685208,CR450327 NP_001070968,NP_002767,NP_665895,AAG23256,AAC14266,AAG33363,AAS66975,EAW71967,EAW71968,EAW71969,AAB81602,BAF85054,AAS66976,AAH02710,CAG29323,O43240,Q53YL3,Q6ICR6,ABM81676,ABM84843 Hs.275464 GDB:6065083 NES1|PRSSL1 protein-coding 1318610 KLK11 kallikrein-related peptidase 11 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in two transcript variants encoding two different isoforms which are differentially expressed. 16911518,16800740,16800724,16800723,15893744,15489334,15329323,15102682,15057824,12975309,12845660,12736044,12539228,12477932,11782391,11550212,11054574,10872828,10662548,9765601 11012 NM_006853,NM_144947,AC011473,AF164623,AF243527,CH471135,AB012917,AB013730,AB041036,AB078780,AB259014,AB261897,AY359014,BC015551,BC022068 NP_006844,NP_659196,AAG23257,AAD47815,AAG33364,EAW71970,EAW71971,EAW71972,BAA33404,BAA88713,BAA96797,BAC54105,BAF02733,BAE95335,AAQ89373,AAH22068,Q0WXX5,Q8IXD7,Q9UBX7 Hs.57771 GDB:9956135 MGC33060|PRSS20|TLSP kallikrein 11 protein-coding 1319061 KLK12 kallikrein-related peptidase 12 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. 11054574,15300858,17391064,16800724,16800723,15057824,12975309,12477932,11056051,11006094,10969073,10675891,10652563 43849 NM_145894,NM_019598,AC011473,AF135025,AF243527,CH471135,AY358524,BC035385,BX648580,NM_145895 NP_665902,NP_665901,NP_062544,AAG23258,AAD26426,AAF06065,AAF06066,AAG33365,EAW71973,EAW71974,EAW71975,EAW71976,EAW71977,EAW71978,AAQ88888,AAH35385,Q9UKR0,Q9UKR2,Q49AM7 Hs.411572 GDB:10796196 DKFZp686H1078|KLK-L5|KLKL5|MGC42603 kallikrein 12 protein-coding 1319630 KLK13 kallikrein-related peptidase 13 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. An additional transcript variant has been identified, but its full length sequence has not been determined. 1580863 14687906,10766816,12642628,16847813,16800724,16800723,15489334,15381110,15057824,12970725,12925213,12477932,11986781,11848466,11054574,11006094,10675891 26085 NM_015596,AC011473,AF135024,CH471135,AB108823,AB108824,AL050220,AY923171,AY923172,AY923173,AY923174,AY923175,BC069334,BC069543 NP_056411,AAG23259,AAD26425,EAW71979,EAW71980,EAW71981,BAC75825,BAC75826,CAB43320,AAX30052,AAX30053,AAX30054,AAX30055,AAX30056,AAH69334,AAH69543,Q5BQ95,Q5BQ97,Q5BQ99,Q86VI7,Q86VI8,Q9UKR3 Hs.165296 GDB:10796198 DKFZP586J1923|KLK-L4|KLKL4 protein-coding 1318477 KLK14 kallikrein-related peptidase 14 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. An additional transcript variant has been described but its full length nature has not been determined. 1580863 15654974,15057824,12858357,12477932,12439719,11352573,11309303,10969073,18056261,17625593,17158887,17110383,16800737,16800724,16800723,16434994,15843175 43847 NM_022046,AC011473,AF161221,BC114614,AF283669,CH471135,AF283670,BC074904,BC074905 NP_071329,AAG23260,AAI14615,Q1RMZ2,Q6B089,Q9P0G3,AAD50773,AAK48523,EAW71982,EAW71983,AAK48524,AAH74904,AAH74905 Hs.283925 GDB:10796200 KLK-L6 kallikrein 14 protein-coding 1322213 KLK15 kallikrein-related peptidase 15 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. 16800724,16800723,15489334,14759258,12915603,12477932,12439720,11901813,11327827,11054574,11006094,10675891,8018728,11010966 55554 Q6ISI0,Q6UBM2,Q96RQ0,Q9H2R5 BC069480,BC069507,BC069518,BC126137,X75363,NM_138563,NM_017509,NM_138564,NM_023006,AC010325,AF242195,AF243527,CH471135,AF303046,AY373373,AY373374 AAQ82621,AAH69480,AAH69507,AAH69518,AAI26138,CAA53145,Q6ISI0,Q6UBM2,Q96RQ0,Q9H2R5,NP_612630,NP_059979,NP_612631,NP_075382,AAG09469,AAG09470,AAG09471,AAG09472,AAG33354,EAW71915,EAW71916,EAW71917,EAW71918,EAW71919,EAW71920,EAW71921,AAK62813,AAQ82620 Hs.567535 ACO|HSRNASPH kallikrein 15 protein-coding 1346385 KLK2 kallikrein-related peptidase 2 1580863 10463585,17657743,17593395,17257635,17085659,16800724,16800723,16388506,16344560,16152616,15643194,15542435,15489334,15203212,15057824,14759258,12805332,12477932,12209605,12124798,11834722,11745444,11358513,11130770,11054574,10991942,10969073,10773882,10544017,10411640,10391209,10386814,10209959,10197620,9428387,9368023,9042371,2824146,2468530,1783409,1726490,16189514 3817 AY429510,BC005196,BT006650,BX641830,CR589977,DA865689,S39329,NM_005551,AC037199,AF243527,CH471135,M18157,AF188745,AF188746,AF188747,AF336106,AY429509,NM_001002231 AAR10469,AAH05196,AAP35296,AAD13816,AAD13817,P20151,Q6T774,Q6T775,Q8WXU4,ABM81598,ABM84779,NP_001002231,NP_005542,AAG33356,EAW71937,EAW71938,EAW71939,EAW71940,EAW71941,EAW71942,AAA74454,AAF08275,AAF08276,AAF08277,AAL73209,AAR10468 Hs.515560 GDB:120119 KLK2A2|MGC12201|hK2 protein-coding 1343198 KLK3 kallikrein-related peptidase 3 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. 1580863 16172196,16152616,16091872,16004602,15936010,15893813,15680901,15599941,15563730,15543614,15531881,15489334,15389580,15350307,16398402,16365023,15340161,15233555,15203212,15050736,15017213,15014041,14761877,14696124,14693733,14643026,14627807,14607215,14584757,12970746,12970732,10675891,14718574,18336535,18306354,18264097,18202763,18187150,18061650,17987534,17961073,17894328,17721809,17721190,17718721,17657743,17641982,17635240,17593395,17507624,17440964,17426252,17394194,17387315,17257635,17151093,17094454,16934957,16859836,16800724,16800723,16775173,16774685,16741919,16708371,16699296,16675575,16581345,16472761,16425097,16424004,12865450,12782640,12626390,12589022,12496487,12477932,12398228,12376473,12362977,12210484,12209605,12168876,12124798,12111704,12032296,11909978,11839651,11834722,11784334,11735417,11502200,11391681,11342264,11327827,11317942,11299734,11054574,11027412,11017939,10969073,10759471,10646852,10604721,10511594,10374881,10218588,9751643,9261179,9146608,9092810,9062481,9016396,8849579,8843739,8753751,8732755,8683730,8665956,8583572,7539415,7538844,7535613,7527295,7521173,7509746,3691515,2472789,2471958,2470553,2470373,2467258,2466464,2458104,2456523,2436946,2422647,1702714,1383255,16189514,12949939,16302261,16247489,16172228,15542435,15829968 354 X13943,X13944,X14810,AF335477,AF335478,AJ310937,AJ310938,AJ459782,AJ459783,AJ459784,AJ512346,BC005307,BC050595,BC056665,BF679511,BQ932072,BT019862,DQ641251,M21895,M21896,M21897,M26663,S75755,U17040,X05332,X07730,NM_001648,NM_001030049,NM_001030048,NM_001030050,AC011523,AF243527,CH471135,M24543,M27274,X13940,X13941,X13942,NM_001030047 CAA32126,CAA32127,CAA32915,AAL73204,AAL73205,CAC41631,CAC41632,CAD30844,CAD30845,CAD30846,CAD54617,AAH05307,AAH50595,AAH56665,AAV38665,AAA59995,AAA59996,AAA59997,AAA58802,AAD14185,AAA56764,CAA28947,P07288,Q15096,NP_001025218,NP_001639,NP_001025220,NP_001025219,NP_001025221,AAG33355,EAW71922,EAW71923,EAW71924,EAW71925,EAW71926,EAW71927,EAW71928,EAW71929,EAW71930,EAW71931,EAW71932,EAW71933,EAW71934,EAW71935,EAW71936,AAA60193,AAA60192,CAA32123,CAA32124,CAB46487,Q15098,Q546G3,Q6LDS3,Q8IXI4,Q8NCW4,Q8WTQ8,Q96A30,ABM81596,ABM84777 Hs.171995 GDB:119695 APS|KLK2A1|PSA|hK3 kallikrein 3, (prostate specific antigen) protein-coding 1353266 KLK4 kallikrein-related peptidase 4 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Alternate splice variants for this gene have been described, but their biological validity has not been determined. 1580863 10438493,10077646,18221492,17545602,17221837,16800736,16800724,16800723,16704423,16497155,16322328,16172196,15489334,15235027,15059887,15057824,12477932,12077288,11735417,11506707,11327827,11258672,11124349,11054574,10863090,10575207,10485467,9465170 9622 NM_004917,AC011483,AF113141,AF135023,AF148532,AF228497,AF243527,CH471135,AF113140,AF126401,AF259964,AF259965,AF259966,AF259967,AF259968,AF259969,AF259970,AF259971,AY923170,BC069325,BC069403,BC069429,BC069489,BC096175,BC096176,BC096177,BC096178 NP_004908,AAD21581,AAD26424,AAD38019,AAL14780,AAL14781,AAL14782,AAF70620,AAG33357,EAW71943,EAW71945,AAD21580,AAG43246,AAK71700,AAK71701,AAK71702,AAK71703,AAK71704,AAF81227,AAK71705,AAK71706,AAX30051,AAH69403,AAH69429,AAH69489,AAH96175,AAH96176,AAH96177,AAH96178,Q4VB17,Q4VB18,Q5BQA0,Q96JD7,Q96JD8,Q96JD9,Q96JE0,Q96JE1,Q96JE2,Q96PT0,Q96PT1,Q96RU5,Q9Y5K2,AAH69325,EAW71944 Hs.218366 GDB:11500548 ARM1|EMSP|EMSP1|KLK-L1|MGC116827|MGC116828|PROSTASE|PRSS17|PSTS protein-coding 1320514 KLK5 kallikrein-related peptidase 5 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863 17158887,17012259,16800723,16628198,16517595,15766562,15713679,15675955,15654974,15489334,15140227,12975309,12890555,12738725,12477932,12385949,11948967,11237385,10969073,10675891,10652563,9373149,11054574,10514489,10608802,18221492,17625593,17459052,8125298 25818 NM_001077492,NM_001077491,AC011483,AF135028,AF243527,CH471135,AF168768,AF435980,AF435981,AK223421,AY279380,AY279381,AY359010,AY461805,NM_012427,BC008036,BT006867 NP_036559,NP_001070960,NP_001070959,AAD26429,AAG33358,EAW71946,EAW71947,EAW71948,EAW71949,EAW71950,EAW71951,EAW71952,AAF03101,AAN63606,AAN63607,BAD97141,AAP42275,AAP42276,AAQ89369,AAR23814,AAH08036,AAP35513,Q53F68,Q53ZR3,Q6S9W8,Q8IU55,Q9Y337,ABM81603,ABM84784 Hs.50915 GDB:10796192 KLK-L2|KLKL2|SCTE protein-coding 736738 KLK6 kallikrein-related peptidase 6 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. The encoded enzyme is regulated by steroid hormones. In tissue culture, the enzyme has been found to generate amyloidogenic fragments from the amyloid precursor protein, suggesting a potential for involvement in Alzheimer's disease. Multiple alternatively spliced transcript variants that encode different isoforms have been identified for this gene. 1358599,1358604,1358596,1580863,1358597 12709365,12878203,12589961,11668196,12016211,18359858,17158887,16800724,16800723,16341674,16321973,16203767,15867230,15837738,15627893,15584920,15557757,15489334,15255184,15207701,14696124,12928483,12480753,12477932,12232761,12074831,12023317,11983703,11054574,10610719,9312124,9003450,8898378 1358599,1358604,1358596,1358597 5653 NM_001012965,NM_001012964,AC011483,AF149289,AF243527,CH471135,AF013988,AY279383,AY318867,AY318868,AY318869,AY318870,AY457039,BC015525,BM763657,BT006852,CR608439,D78203,NM_002774,DQ223012,U62801 NP_002765,NP_001012983,NP_001012982,AAD51475,AAG33359,EAW71953,EAW71954,EAW71955,EAW71956,EAW71957,AAB66483,AAP82446,AAP82448,AAR23148,AAH15525,AAP35498,BAA11306,ABB04464,AAB07113,Q6H301,Q6JIA6,Q92876,ABM84474,ABM84771 Hs.79361 GDB:5886424 Bssp|Klk7|MGC9355|NEUROSIN|PRSS18|PRSS9|SP59|ZYME|hK6 kallikrein 6 protein-coding 1315024 KLK7 kallikrein-related peptidase 7 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded enzyme is thought to be involved in the proteolysis of intercellular cohesive structures preceding desquamation, which is the shedding of the outermost layer of the epidermis. Alternative splicing of this gene results in two transcript variants encoding the same protein. 8034709,18343220,18163887,17989887,17909180,17012259,16800724,16800723,16628198,15766562,15675955,15489334,15297163,15191543,15140227,14972646,14691584,12738725,12477932,11054574,10974542,7794273 5650 NM_005046,NM_139277,A42048,AC011483,AF166330,AF243527,AF332583,CH471135,CQ785390,AF411214,AF411215,AK289660,AY646152,BC032005,L33404 NP_005037,NP_644806,CAA02644,AAD49718,AAG33360,AAK69624,EAW71958,EAW71959,EAW71960,EAW71961,CAG17626,AAN03662,AAN03663,BAF82349,AAT66047,AAH32005,AAC37551,P49862,Q6DTY1,ABM81672,ABM84842 Hs.151254 GDB:377730 PRSS6|SCCE kallikrein 7 (chymotryptic, stratum corneum) protein-coding 1314360 KLK8 kallikrein-related peptidase 8 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in four transcript variants encoding four different isoforms. The isoforms exhibit distinct patterns of expression that suggest roles in brain plasticity and ovarian cancer. 16337200,18354391,17487847,17178872,16800733,16800724,16800723,15282331,15138549,15057824,14749636,12975309,12477932,11309326,11054574,10969073,10485494,10102990,9714609 11202 NM_144506,NM_144505,NM_007196,AB010780,AB012761,AC011473,AC011483,AF095743,AF243527,AF251125,AY563055,AY563056,NM_144507,AY563058,AY563059,AY563060,AY563061,AY563062,AY563063,AY563064,AY563065,AY563057,AY563066,AY563067,CH471135,AB008390,AB008927,AB009849,AF095742,AY359036,BC040887,CR601157,DQ267420 NP_653090,NP_653089,NP_653088,NP_009127,BAA88684,BAA28676,AAG23254,AAD29574,AAG33361,AAF79144,AAF79145,AAT76913,AAT76914,AAT76915,AAT76916,AAT76917,AAT76918,AAT76919,AAT76920,AAT76921,AAT76922,AAT76923,AAT76924,AAT76925,AAT76926,AAT76927,AAT76928,AAT76929,AAT76930,AAT76931,AAT76932,AAT76933,AAT76934,AAT76935,AAT76936,AAT76937,AAT76938,EAW71962,EAW71963,EAW71964,BAA82665,BAA82666,BAA28673,AAD25979,AAQ89395,AAH40887,ABB83339,O60259,Q2XQG5 Hs.104570 GDB:9957378 HNP|NP|NRPN|PRSS19|TADG14 kallikrein 8 (neuropsin/ovasin) protein-coding 1317964 KLK9 kallikrein-related peptidase 9 KLK9 belongs to the kallikrein subgroup of serine proteases, which have diverse physiologic functions in many tissues. For background information on kallikreins, see MIM 147960.[supplied by OMIM] 1580863 11054574,16800724,16800723,15057824,11691797,10783266,10652563 284366 NM_012315,AC011473,AF135026,AF243527,CH471135,CS300780,AY551001,DQ267419,DQ267420 NP_036447,AAG23255,AAD26427,AAG22845,AAG33362,EAW71965,EAW71966,CAK32444,AAS55655,ABB83336,ABB83337,ABB83338,Q2XQG4,Q2XQG6,Q6QA55,Q9UKQ9,AAI40230,AAI41614 Hs.104570,Hs.448942 GDB:10796194 KLK-L3|KLK8|KLKL3 kallikrein 9 protein-coding 736915 KLKB1 kallikrein B, plasma (Fletcher factor) 1 Plasma prekallikrein is a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. It is synthesized in the liver and secreted into the blood as a single polypeptide chain. Plasma prekallikrein is converted to plasma kallikrein by factor XIIa by the cleavage of an internal Arg-Ile bond. Plasma kallikrein therefore is composed of a heavy chain and a light chain held together by a disulphide bond. The heavy chain originates from the amino-terminal end of the zymogen and contains 4 tandem repeats of 90 or 91 amino acids. Each repeat harbors a novel structure called the apple domain. The heavy chain is required for the surface-dependent pro-coagulant activity of plasma kallikrein. The light chain contains the active site or catalytic domain of the enzyme and is homologous to the trypsin family of serine proteases. Plasma prekallikrein deficiency causes a prolonged activated partial thromboplastin time in patients. 1580863 12372819,11434682,11383556,11031105,10604527,10543447,10464316,10226805,9535413,8761966,8555184,8280154,8226803,8025275,7944388,7686159,3636155,3521732,1998666,1466300,694428,291905,11864713,2551064,1993180,14718574,18160576,17922805,17696780,17318641,16335952,16199530,15489334,15146197,12944405,12887060,12754519,12477932 3818 NM_000892,AC110771,AF232734,AF232735,AF232736,AF232737,AF232738,AF232739,AF232740,AF232741,AF232742,AY190920,CH471056,G41320,AK292624,AW182528,BC117349,BC117351,CN265612,M13143 NP_000883,AAY40900,AAF79940,AAN84794,EAX04622,EAX04623,BAF85313,AAI17350,AAI17352,AAA60153,P03952,Q17RE8,Q4W5C3 Hs.646885 GDB:127575 KLK3 protein-coding 1602787 KLKP1 kallikrein pseudogene 1 18196551,16541416,15498522 606293 NR_002948,XM_001724724,XM_001726103,XM_001724629,AC011483,AC037199,AY302756,DQ086830,AY533562,DQ086829,DQ211698 XP_001724776,XP_001726155,XP_001724681,AAZ78652,AAZ78651,Q107X0 Hs.643424 KLK31P|PsiKLK1|YKLK1 pseudo 1345877 KLRA1 killer cell lectin-like receptor subfamily A, member 1 1580863 9645365,16492762,16344560,12477932,10783260,10457220,10369937 10748 NM_006611,AC021049,AF126037,CH471094,AF047445,AY334570,BC069672,BC069697,BC069734,BC101471,BC101473,DA776936,AK290077 NP_006602,AAD44160,EAW96193,EAW96194,EAW96195,AAP94733,AAH69672,AAH69697,AAH69734,AAI01472,AAI01474,O75889,Q6NSY2,Q7Z556,Q9UNG0,AAC35898,BAF82766 Hs.159297 GDB:9787105 KLRA#|LY49L|Ly-49L|Ly49|MGC126520|MGC126522 protein-coding 1343225 KLRB1 killer cell lectin-like receptor subfamily B, member 1 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. 1580863 8077657,18219672,18159636,16925668,16455998,16339513,16339512,15489334,14990792,12858173,12477932,12100027,10458753,10229828,9603467,9394825,9341779,9218532,8647203,14987913 3820 NM_002258,AC006432,CH471094,AK292022,BC027885,BC113997,BC114516,BF432813,U11276 NP_002249,EAW96108,BAF84711,AAI13998,AAI14517,AAA21605,Q12918 Hs.169824 GDB:136268 CD161|CLEC5B|MGC138614|NKR|NKR-P1|NKR-P1A|NKRP1A|hNKR-P1A protein-coding 1353186 KLRC1 killer cell lectin-like receptor subfamily C, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. 1580863 2007850,11513152,18332182,18172398,18083576,18056444,17976318,17927829,17767552,17545086,16951318,16690409,16434388,15687235,15561299,15550116,15528343,15489334,12618865,12477932,12461076,12444112,12387742,12165520,11238637,10488737,9842883,9598306,9486650,9485206,9218532,9034158,8943374,8753859,8436421 3821 NM_213657,NM_213658,NM_007328,NM_002259,AB073871,AC068775,AF023840,U54782,U54783,U54784,U54785,U54786,AF461812,BC012550,BC053840,X54867,X54868 NP_998822,NP_998823,NP_015567,NP_002250,BAB91356,AAC17488,AAB17133,AAL65234,AAH12550,AAH53840,CAA38649,CAA38650,P26715,Q8NIA5,ABM83666,ABM86912,ABM87729 Hs.512576 GDB:138773 CD159A|MGC13374|MGC59791|NKG2|NKG2A protein-coding 1349370 KLRC2 killer cell lectin-like receptor subfamily C, member 2 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. 1580863 9683661,2007850,8436421,17767552,15940674,15550116,15489334,14688071,12618865,12477932,11751968,10894168,10320637,9655483,9598306,9486650,9103421 3822 NM_002260,XM_001713685,XM_001713701,AC068775,AJ001684,AF260134,BC093644,BC106069,BC112039,X54869,Y13055 AAH93644,NP_002251,XP_001713737,XP_001713753,CAA04922,AAF86972,AAI06070,AAI12040,CAA38651,CAA73498,P26717,Q3KQS7 Hs.591157 GDB:9787095 CD159c|MGC138244|NKG2-C|NKG2C protein-coding 1346640 KLRC3 killer cell lectin-like receptor subfamily C, member 3 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 9683661,11751968,10201920,9598306,8943374,8276468 3823 NM_002261,NM_007333,AC022075,AC068775,AF027164,AJ001685,CH471094,AF078550,AF350016,AF350017,AF461157,L14542 NP_002252,NP_031359,AAC17490,CAA04923,EAW96184,EAW96185,EAW96186,AAD46108,AAK83803,AAK83804,AAL65232,AAA16833,Q07444,Q71V82,Q8WXA4,AAI60065 Hs.654362 GDB:9787102 NKG2-E|NKG2E protein-coding 1342769 KLRC4 killer cell lectin-like receptor subfamily C, member 4 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC4 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. The 3' end of the KLRC4 transcript includes the first non-coding exon found at the 5' end of the adjacent D12S2489E gene transcript. 1580863 9683661,18006695,17217747,16397273,15489334,15240696,15140575,12740575,12679019,12477932,12426565,12426564,12133964,11973127,11777960,11754823,11751968,11567106,11520456,11323699,10426994,10426993,9598306,9394807,8436421,2007850 8302 AC022075,AF027164,AJ001686,U96846,AF350018,AF350019,AJ001683,BC017784,U96845,NM_013431 NP_038459,AAC17491,CAA04924,AAC51910,AAK83805,AAK83806,CAA04921,AAH17784,AAC51909,O43908,ABM82904,ABM86095 Hs.665704 GDB:9787104 FLJ17759|FLJ78582|NKG2-F|NKG2F protein-coding 735531 KLRD1 killer cell lectin-like receptor subfamily D, member 1 Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoforms have been found for this gene. 1580863 7589107,11513152,18332182,18083576,17976318,17767552,16378079,16237464,15940674,15561299,15528343,15489334,14734748,14607929,12618865,12477932,12461076,12444112,12387742,12165520,12149421,11751968,11493613,10320637,10201920,10023772,9886400,9815261,9655483,9601951,9598306,9486650,9485206,9472066,9405670,9034158,8943374,8769479,8046333,16189514 3824 NM_002262,NM_007334,NM_001114396,AB010084,AC022075,AJ000673,CH471094,Y14287,AB009597,AF498040,AF498041,AJ000001,AK291506,AY227806,AY327501,BC028009,BC042884,U30610 NP_002253,NP_031360,NP_001107868,BAA24451,CAA04230,EAW96172,EAW96173,EAW96174,EAW96175,CAA74663,BAA24450,AAM70197,AAM70198,CAA03845,BAF84195,AAP57386,AAQ93007,AAH28009,AAH42884,AAC50291,Q13241,Q49A85,Q53ZY6,Q5YLG5,Q8NFL9,Q8NFM0,ABM81956,ABM85135 Hs.562457 GDB:696221 CD94 protein-coding 1345828 KLRE1 killer cell lectin-like receptor family E member 1 3825 1343603 KLRF1 killer cell lectin-like receptor subfamily F, member 1 1580863 10671213,15489334,12477932,11513955,11265639 51348 AC007068,CH471094,AF175206,NM_016523,AF175207,AF267244,AF267245,AJ305370,BC096734,BC098166,BC098257,BC098354 NP_057607,EAW96124,EAW96125,EAW96126,AAF37804,AAF37805,AAL14873,AAL14874,CAC29425,AAH96734,AAH98166,AAH98257,AAH98354,Q4KMZ4,Q4KN05,Q4KN30,Q9NZS2 Hs.183125 GDB:11500846 CLEC5C|MGC119907|MGC119908|MGC119909 protein-coding 737284 KLRG1 killer cell lectin-like receptor subfamily G, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reported, but their full-length natures have not yet been determined. 1580863 9765598,9842918,17617594,17079288,16461340,16189514,16140789,15879103,15368283,12477932,12393723,9862378,1831652 10219 NM_005810,AC006581,CH471116,AF034952,AF081675,AF097358,AI433079,BC012621 NP_005801,EAW88594,EAW88595,AAC34731,AAC32200,AAD03719,AAH12621,Q96E93,ABM83746,ABM87065 Hs.558446 GDB:9958941 2F1|CLEC15A|MAFA|MAFA-2F1|MAFA-L|MAFA-LIKE|MGC13600 protein-coding 1604700 KLRG2 killer cell lectin-like receptor subfamily G, member 2 16344560,12477932 346689 NM_198508,AC005531,CH236950,CH471070,AA742567,AK126174,BC104963,BC104965,BC110858,DB128604 NP_940910,EAL24036,EAW83921,BAC86473,AAI04964,AAI04966,AAI10859,A4D1S0 Hs.17572 CLEC15B|FLJ44186|MGC131846 protein-coding 1347088 KLRH1 killer cell lectin-like receptor subfamily H, member 1 114698 GDB:11503504 1345052 KLRI1 killer cell lectin-like receptor subfamily I, member 1 359810 735993 KLRK1 killer cell lectin-like receptor subfamily K, member 1 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene encodes a member of the NKG2 family, and the encoded transmembrane protein is characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. 15240696,2007850,18398831,18394936,18361934,18316620,18275895,18230726,18202175,18174257,18097042,18094430,18094399,18024793,18023027,18006849,17991774,17923698,17875681,17661204,17635809,17625602,17609265,17570210,17470428,17405908,17267578,17255258,17202358,17173658,17109473,17043026,16914326,16901903,16887974,16849432,16732291,16690951,16630603,16568261,16517727,16344560,16293707,16272287,16239914,16210654,16136475,16081780,15885603,15814668,15699512,15699119,15657183,15652646,15489334,15328155,15187109,15070686,15065764,15051759,14523385,14508119,12902493,12732206,12679019,12646700,12594848,12477932,12426564,12384702,11973127,11777960,11754823,11751968,11323699,11239445,10426994,10426993,10367903,9683661,9598306,9394807,8889548,12133964,11248803,2426565 22914 NM_007360,AC022075,AJ001687,CH471094,DQ494172,AF260135,AF260136,AF439512,AK226161,AK292059,BC039836,CB241686,CR597595,CR607215,DA960048 NP_031386,CAA04925,EAW96178,EAW96180,EAW96182,ABF50044,AAF86973,AAF86974,AAL35226,BAF84748,AAH39836,P26718,Q1HEA1,Q8WZ67 Hs.387787 CD314|D12S2489E|FLJ17759|FLJ75772|KLR|NKG2-D|NKG2D nkr-p2, ortholog of human nkg2d protein-coding 737300 KMO kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) Kynurenine 3-monooxygenase (KMO; EC 1.14.13.9) is an NADPH-dependent flavin monooxygenase that catalyzes the hydroxylation of the L-tryptophan metabolite L-kynurenine to form L-3-hydroxykynurenine.[supplied by OMIM] 724408,1580863,2290313,2290312 9237672,10672018,14704851,16716206,16643513,15950064,15342556,12477932,12402501,11401433 724408,2290313,2290312 8564 NM_003679,AL133390,AL591898,CH471098,AF056032,AK291558,BC005297,BP276365,CR593684,CR601734,CR613404,Y13153 NP_003670,CAI13903,CAI13905,CAI13906,CAI13907,EAW70094,EAW70095,EAW70096,AAC62615,BAF84247,AAH05297,CAA73613,O15229,Q5SY05,Q9BS61,Q9H1Y5 Hs.409081 GDB:9955645 dJ317G22.1 kynurenine 3-hydroxylase protein-coding 1352252 KMS Kabuki make-up syndrome 3826 GDB:118827 1604992 KNCN kinocilin 16344560,15855039,14702039,12477932 148930 NM_001097611,AL136373,CH471059,AK056573,BC101295,BC101296,BC101297,BC101298,DA208279,DB324949 NP_001091080,CAO03551,EAX06906,BAB71220,AAI01296,AAI01297,AAI01298,AAI01299,A6PVL3,Q494Z7,Q494Z8,Q96MR4 Hs.350764 FLJ32011|Kino|L5|MGC120370|MGC120371|MGC120372|RP11-49P4.2 protein-coding 1351519 KNDC1 kinase non-catalytic C-lobe domain (KIND) containing 1 16344560,12477932,11214970 85442 AL445199,AB000781,AB051555,AI146357,AI951527,AK057756,AK074179,AK090457,AK131205,BC047924,BQ719533,DA388038,NM_152643 NP_689856,BAD12625,BAB21859,BAB71561,BAB85005,BAC03438,BAD18397,AAH47924,Q5T232,Q5U5J6,Q76NI1,Q8NF24 Hs.530685 C10orf23|FLJ16067|RASGEF2|RP13-439H18.3|bB439H18.3 protein-coding 1603713 KNG1 kininogen 1 11970955,12715893,14718574,18156442,18083112,17635790,17585065,17065357,17050061,16598774,12911595,11290596,11385996,16014619,10066772,9459346,9428707,9373149,9276160,9269768,8807575,8764310,8761966,8710908,8706894,8662705,8253784,8125298,7944388,7901207,7686159,7589467,7492318,6441591,6406551,4952632,4054110,3936495,3689342,3484703,3366244,3182782,3045123,3038169,2989294,2989293,2460446,2066106,1733668,1652157,1202089,16344560,16335952,16140359,16091369,15086463,15044324,14764580,14760718,14687935,14629481,14597972,14530218,14517215,14506238,12952972,12887060,12851878,12761213,12754519,12748173,12663668,12594059,12576314,12492488,12477932,12452440,12213329,12090937,12082110,12071855,12051729,11920276,11792853,11689005,11677365,11517935,11434682,10887113,10845911,10464316,500690,291905 3827 NM_000893,NM_001102416,AC109780,AC112907,AY248697,CH471052,M11437,M11438,M11521,M11522,M11523,M11524,M11525,M11526,M11527,M11528,AI133186,AK223589,AK290839,BC026253,BC060039,BG430928,CB148843,CR590667,CR590668,CR591010,CR606410,CR607387,DA537547,K02566 NP_000884,NP_001095886,AAO61092,EAW78179,EAW78180,EAW78181,AAB59550,AAB59551,BAD97309,BAF83528,AAH26253,AAH60039,AAA35497,P01042,Q05CF8,Q53EQ0,Q6PAU9 Hs.77741 BDK|KNG protein-coding 1345529 KNO Knobloch syndrome 8776601 3828 GDB:4073044 1349296 KNPEP lysyl aminopeptidase (aminopeptidase Co) 3829 GDB:138284 1317369 KNTC1 kinetochore associated 1 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. 1580863 11146660,12686595,14702039,11590237,8889549,8724849,17353931 9735 NM_014708,AC026333,AC127002,CH471054,AA157787,AI916095,AK093470,BC150278,D79988 NP_055523,EAW98333,EAW98334,AAI50279,BAA11483,P50748 Hs.300559 GDB:9784993 FLJ36151|KIAA0166|ROD protein-coding 1347998 KPNA1 karyopherin alpha 1 (importin alpha 5) Recombination activating proteins RAG1 and RAG2 regulate and mediate V(D)J recombination, the process by which genes for immunoglobulins and T-cell receptors are generated. Several other ubiquitously expressed proteins are thought to be recruited in the recombination process. Among these are the genes affected in severe combined immune deficiency and genes involved in ds-DNA break repair. The protein encoded by this gene interacts with RAG1 and may play a role in V(D)J recombination 1580863 11581171,7754385,17981117,8052633,1985200,7559393,18238777,17928350,16698996,16439554,16298512,15489334,14702039,12740372,12610148,12504543,12477932,12414950,12368302,12048190,12011095,11927559,11904219,11824786,11389849,11278458,11152524,11060446,11035935,10964507,10888660,10888652,10860744,10772949,10748034,10525473,10366569,9918876,9817747,9695948,9603322,9582382,9562972,9557700,9548947,9463369,9436978,9366553,9303297,9282826,9275210,9261351,9110174,9020149,9008157,8876228,8692858,8659115,8631802,8619474,8552640,8551560,8529100,8105392,8041786,8041734,7892216,7859280,7831767,7745752,7604027,7585960,9593140,7494303,2064827,1631159,15037073,15731250,15142377,12861017,17353931,16189514,11682607,10951564,15342649 3836 NM_002264,AC083798,AC096861,CH471052,AA689229,AF035311,AI216375,AK125626,AK128280,AL700464,AL710311,BC002374,BC003009,BC029937,BC090864,BG287593,BT006959,CA433573,CR456743,CR620304,S75295,U20620 NP_002255,EAW79482,EAW79483,AAH02374,AAH03009,AAH90864,AAP35605,CAG33024,AAC60648,P52294,Q5BKZ2,Q6IBQ9,ABM82332,ABM87821 Hs.161008 GDB:5912683 IPOA5|NPI-1|RCH2|SRP1 protein-coding 1344039 KPNA2 karyopherin alpha 2 (RAG cohort 1, importin alpha 1) The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination 1580863 9020106,9497340,9168958,7565597,8016130,7754385,18068677,17899179,17596301,17551513,17537211,17344301,17255955,17081983,17070506,16964243,16818692,16752129,16565220,16552725,16380377,16188882,15795315,15731250,15635413,15489334,15383276,15342649,15234975,15194443,14743216,12933681,12909615,12883947,12881431,12631736,12551970,12504543,12504098,12477932,12477715,12414990,12414950,12368302,12176322,12062430,12011095,11988093,11904219,11882654,11840567,11796712,11790298,11735022,11581171,11389849,11310559,11278458,11152524,11114884,11035935,10980193,10964507,10930427,10888660,10888652,10860744,10801418,10772949,10748034,10525473,10497201,10366569,10359596,10353244,10228156,9918876,9817747,9786944,9603322,9593140,9582382,9562972,9557700,9548947,9463369,9436978,9366553,9323134,9303297,9282826,9275210,9261351,9008157,8955125,8876228,8659115,8631802,8617227,8617226,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7604027,7585960,7494303,2064827,1631159,15037073,15142377,16189514,15351208,15579463,9891055 3838 AC134407,AJ303086,CH471099,AK024833,AK058111,AK291954,BC005978,BC013257,BC034443,BC053343,BC067848,BT006665,CR595289,CR599710,CR605528,CR606537,CR607334,CR607794,U09559,U28386,NM_002266 NP_002257,CAC83080,EAW89040,EAW89041,BAF84643,AAH05978,AAH53343,AAH67848,AAP35311,AAA65700,AAA69957,P52292,Q53YE3,Q6NVW7,Q7Z726,ABM92216,ABM84694 Hs.594238 GDB:374081 IPOA1|QIP2|RCH1|SRP1alpha protein-coding 1322742 KPNA3 karyopherin alpha 3 (importin alpha 4) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA3, encodes a protein similar to certain nuclear transport proteins of Xenopus and human. The predicted amino acid sequence shows similarity to Xenopus importin, yeast SRP1, and human RCH1 (KPNA2), respectively. The similarities among these proteins suggests that karyopherin alpha-3 may be involved in the nuclear transport system. 1580863 15882913,15635413,15489334,14759373,14743216,12740372,12477932,12414950,12368302,11904219,11389849,11278458,11035935,10964507,10888652,10860744,10744690,10525473,10366569,10100610,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9395085,9373149,9435235,15057270,17353931,17981117,9154134,17081983,16713569,16644122,16189514,9366553,9303297,9282826,9275210,9008157,8876228,8659115,8552640,8551560,8529100,8125298,8105392,8041786,8041734,7859280,7745752,7585960,7494303,2064827,1631159,15037073 3839 NM_002267,AL135901,AL136301,CH471075,AF005263,AF034756,AK223480,AK290528,AK291000,BC024202,BC035090,D89618,Y12394,BC017355 NP_002258,CAI40716,CAI40722,EAX08837,EAX08838,EAX08839,AAQ13404,AAB87693,BAD97200,BAF83217,BAF83689,AAH17355,AAH24202,AAH35090,BAA20378,CAA73026,O00505,Q53F09,Q5JVN1,Q5W0Z8,Q8IYQ9,ABM83570,ABM86808 Hs.527919 GDB:5912684 IPOA4|SRP1gamma|SRP4|hSRP1 protein-coding 1322966 KPNA4 karyopherin alpha 4 (importin alpha 3) The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. 1580863 17353931,17981117,9395085,17661348,17081983,16375861,15635413,15489334,14702039,12610148,12477932,12414950,12368302,11904219,11389849,11278458,11035935,10965137,10964507,10888652,10860744,10525473,10366569,10100610,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9366553,9303297,9282826,9275210,9168958,9008157,8876228,8659115,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7585960,7494303,2064827,1631159,15037073,16189514 3840 NM_002268,AC078868,CH471052,AB002533,AK021602,AK129841,AK291041,BC007458,BC016754,BC028691,BC034493,CR597383,U93240,Y12393 NP_002259,EAW78631,EAW78632,EAW78633,BAA19546,BAF83730,AAH07458,AAH16754,AAH28691,AAH34493,AAC25605,CAA73025,O00629,Q96IJ5,Q96KW7,ABM81792,ABM84947 Hs.288193 GDB:9864374 IPOA3|MGC12217|MGC26703|QIP1|SRP3 protein-coding 1343568 KPNA5 karyopherin alpha 5 (importin alpha 6) The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. 1580863 9008157,8876228,8659115,8552640,8551560,8529100,8105392,8041786,8041734,7859280,15057270,17981117,9395085,16713569,12740372,12610148,12477932,12414950,12368302,11904219,11389849,11278458,11035935,10964507,10888652,10860744,10525473,10366569,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9366553,9303297,9282826,9275210,7745752,7585960,7566098,7494303,2064827,1631159,15037073 3841 NM_002269,AL132795,AL354716,CH471051,AA332147,AF005361,BC047409,BG721781 NP_002260,CAI20500,CAI20501,CAI20502,EAW48216,AAC51868,AAH47409,O15131,Q5TD89,Q5TD90 Hs.182971 GDB:9864375 IPOA6|SRP6 protein-coding 1315261 KPNA6 karyopherin alpha 6 (importin alpha 7) Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. 1580863 17353931,17981117,9395085,16713569,16344560,16298512,15489334,15342556,14743216,14702039,12477932,12414950,12368302,11904219,11751052,11389849,11278458,11035935,10964507,10888652,10860744,10822175,10525473,10523667,10366569,9918876,9603322,9593140,9562972,9557700,9548947,9463369,9366553,9303297,9282826,9275210,9008157,8955125,8876228,8659115,8552640,8551560,8529100,8105392,8041786,8041734,7859280,7745752,7585960,7494303,2064827,1631159,15037073 23633 NM_012316,AL049795,AL445248,CH471059,AF060543,AK000724,AK002111,AK128609,AU142228,BC020520,BP374991,BT009843,CR592029 NP_036448,CAI22054,CAI22056,CAH71948,EAX07567,EAX07568,EAX07569,AAC15233,AAH20520,AAP88845,O60684,ABM82513,ABM85707 Hs.470588,Hs.711019 GDB:10795442 FLJ11249|IPOA7|KPNA7|MGC17918 protein-coding 737037 KPNB1 karyopherin (importin) beta 1 Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. 1580863 7627554,15282309,7615630,1985200,7559393,9405152,18398821,18238777,18028944,17916694,17646395,17596301,17537211,16982803,16704975,16552725,16380377,15964792,15795315,15494309,15489334,15388255,15383276,15342649,15297880,15231748,15194443,15037768,14718574,13679510,12764225,12614157,12551970,12504010,12477932,12414950,12368302,12176322,12135354,12095920,12062430,12011095,11984006,11751052,11401507,11389849,11323423,11310559,11297531,11278458,11257130,11035935,10965137,10951564,10929717,10888652,10860744,10846168,10822175,10811646,10779340,10772949,10749866,10525473,10523667,10473610,10397761,10367892,10366569,10353244,10228156,10209022,10037787,9891056,9891055,9817747,9687515,9670026,9621063,9582382,9562972,9463369,9436978,9435235,9430704,9398662,9366553,9323134,9275210,9275187,9261175,9214382,9144189,9135132,9102465,9045717,8692944,8617227,8617226,8576188,8105392,1631159,16354571,14743216,15889150,15864302,8896452 3837 NM_002265,AC015674,AC025682,CH471109,L39793,BC003572,BC024045,BC036703,BE046507,BT009797,L38951,L39924 NP_002256,EAW94807,EAW94808,EAW94809,EAW94810,AAA82869,AAH03572,AAH24045,AAH36703,AAP88799,AAC41763,Q14974,Q53XN2,ABM83789,ABM87111 Hs.532793,Hs.706168 GDB:6053802 IMB1|IPOB|Impnb|MGC2155|MGC2156|MGC2157|NTF97 protein-coding 1353027 KPRP keratinocyte proline-rich protein 16710414,16297201 448834 NM_001025231,AL353779,AY960854 NP_001020402,CAI20978,AAX59055,Q5T749,AAI52832 Hs.149386 C1orf45 chromosome 1 open reading frame 45 protein-coding 1321189 KPTN kaptin (actin binding protein) 1580863 10099934,17353931,1372044,16344560,15489334,14702039,12477932,11409409,9373149,8125298,12019562 11133 NM_007059,AC073548,AF243529,CH471126,AF105369,AK023996,AK225419,BC009249,BG388698,CR590339,CR618331,CR619560,DA824599 NP_008990,AAF98790,EAW57487,AAD39358,AAH09249,Q9Y664 Hs.25441 GDB:9956891 2E4 protein-coding 1350859 KRAS v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. 1581756,1581769,1600469,1581757,1581768,1600465,1600466,1600467,1600468,1600471,1600472,1600477,1600476,1600499,1581761 11857081,12732644,11520933,7972015,8493579,9069260,9690470,18418018,18383861,18355852,18334834,18316791,18303429,18299280,18289366,18268007,18265644,18224685,18208799,18202412,18199160,18172263,18038880,17998284,17974974,17960171,17943694,17910045,17904685,17875937,17873613,17805054,17729418,17714760,17712732,17710156,17707462,17704260,17697521,17671710,17663506,17659731,17638924,17636402,17632319,17629419,17607370,17601930,17596643,17592266,17591931,17580276,17575320,17575133,17568059,17554370,17551339,17549340,17534846,17504988,17487504,17487277,16879389,16818665,16808798,16774937,16773572,16765042,16761621,16760301,16756473,16721785,16687659,16672071,16618717,16575407,16573741,16552337,16534842,16533793,16533526,16520020,16482519,16474405,16474404,16458330,16456810,16448675,16397024,16373972,16356174,16354586,16257181,16219426,16189514,16169155,16158056,16144912,16142319,16142311,16139926,16112461,16110022,16098678,16091732,16077965,16043828,16015387,15994075,15991278,15958551,15943410,15923430,15923428,15846069,15824172,15815931,15741570,15734482,15608639,15608367,17465446,17471559,17459062,17449174,17440063,17436386,17409930,17393356,17366577,17360030,17354229,17352027,17332339,17332249,17324647,17321325,17320764,17285540,17270239,17227126,17210246,17198183,17192902,17192038,17184525,17172815,17170014,17149612,17133351,17130841,17071580,17060486,17056636,16988471,16973828,16969076,16953233,16937524,16923573,16918136,16905440,16896030,16889753,15548565,15534934,15531466,15528212,15523694,15514939,15489648,15489334,15367885,15262995,15221969,15213223,15112354,15112277,15077125,15040037,15037631,15010862,14989985,14966563,14961576,14761400,14724583,14688017,14654903,14612290,14601056,14534542,14520703,14513361,14511407,14508142,12972432,12908779,12882980,12871370,12826308,12824925,12766905,12727204,12720172,12651912,12644542,12606951,12606501,12592366,12557259,12477932,12452332,12374986,12372883,12211074,12135058,12093899,12085227,12082617,12034322,12032847,12006650,11948427,11836595,11822784,11746970,11745690,11745231,11668624,11585916,11524732,11278702,11016621,10918068,10783161,10542052,10490827,10398103,9674433,9446616,9180144,8955068,8439212,7916576,7908857,7809086,7773929,6866079,6695174,6328282,6320174,6308467,6308466,6308465,6298638,6098458,6096811,6092920,3932274,3895297,3856955,3855240,3627975,3476115,3330777,3310850,3276554,3047672,3034404,2453289,2015559,1850383,1553789,9344703,9269777,11888933 1581756,1581769,1600469,1581757,1581768,1600465,1600466,1600467,1600468,1600471,1600472,1600477,1600476,1600499,1581761 3845 NM_004985,NM_033360,NG_007524,AC087239,AC092794,AF285779,CH471094,K03210,L00044,L00045,L00048,L00049,M26261,M34904,S64261,X01228,X01669,X02825,AA812162,AF493917,AK292510,BC010502,BC013572,BC029545,BG258021,BT007153,CR625034,M17087,M35504,M35505,M54968 NP_004976,NP_203524,AAF91482,EAW96511,EAW96512,EAW96513,EAW96514,AAA36554,AAB59444,AAB59445,AAA36148,AAA36149,AAD13953,CAA25828,CAA26593,AAM12631,BAF85199,AAH10502,AAH13572,AAP35817,AAA36555,AAA35689,AAA35690,AAB41942,P01116,Q14014,Q14015,Q15285,Q71SP6,Q7KZ06,Q92668,Q96FS0,ABM81575,ABM84755 Hs.505033 GDB:120120 C-K-RAS|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|KI-RAS|KRAS1|KRAS2|NS3|RASK2 protein-coding 1345392 KRAS1P v-Ki-ras1 Kirsten rat sarcoma 1 viral oncogene homolog, processed pseudogene 6672765,6308466,2894641 3844 NG_001154,AL356782,AL512363,K01912 GDB:119356 c-Kras1 pseudo 1603293 KRBA1 KRAB-A domain containing 1 12477932,11347906 84626 NM_032534,AACC02000041,AC004897,CH471146,AB058765,AL831935,BC033229,BC041587,BC142722,BC146667,BC150330,BC152409,BU557058 NP_115923,EAL24434,EAW80035,EAW80036,EAW80037,BAB47491,AAH33229,AAH41587,AAI42723,AAI46668,AAI50331,AAI52410,A5PL33 Hs.299560 KIAA1862|MGC176633 protein-coding 1603590 KRBA2 KRAB-A domain containing 2 12477932 124751 NM_213597,AC135178,AK131219,BC024723,BC033390 NP_998762,BAD18406,AAH33390,Q6ZNG9,AAI46331,AAI48757 Hs.304604 protein-coding 1605393 KRCC1 lysine-rich coiled-coil 1 12477932 51315 NM_016618,AC108479,CH471215,AF208845,AF217520,AK025986,BC015927,BC107580,CR604678,CR625257,EF413023 NP_057702,AAY24007,EAW77081,EAW77082,AAF64259,AAF67631,AAH15927,AAI07581,ABN71577,Q9NPI7 Hs.469254 CHBP2|FLJ22333 protein-coding 733267 KREMEN1 kringle containing transmembrane protein 1 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. 633127,1580863 11267660,15489334,15146197,14702039,12477932,12050670,10737800,10591208 633127 83999 NM_001039570,NM_001039571,AL021393,CH471095,AB059618,AK056425,AK172861,AL533967,BC063787,BE706705,BG743250,BX433015,BX451207,CB266010,CN310838 NP_001034659,NP_001034660,EAW59773,EAW59774,EAW59775,BAB40969,BAB71180,BAD18817,AAH63787,Q6ZMB2,Q96MU8 Hs.229335 GDB:11506179 FLJ31863|KREMEM1|KREMEN|KRM1 protein-coding 1321902 KREMEN2 kringle containing transmembrane protein 2 This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. 1580863 16303743,15489334,14702039,12477932,12050670,9373149,8125298 79412 NM_172229,NM_024507,AC004235,CH471112,AB086355,AB086356,AB086357,AB086405,AK027669,AK075033,AK223422,BC003533,BC009383,CR601297,CR611298 NP_757384,NP_078783,EAW85445,EAW85446,EAW85447,EAW85448,EAW85449,BAC00823,BAC00824,BAC00825,BAC00872,BAB55281,BAC11365,BAD97142,AAH03533,AAH09383,Q53F67,Q8NCW0,ABM87446 Hs.661128 GDB:11508409 KRM2|MGC10791|MGC16709 protein-coding 1607005 KRI1 KRI1 homolog (S. cerevisiae) This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. 16344560,14702039,12878157,12477932,8889548 65095 NM_023008,AC011461,AC011475,CH471106,AK023011,AK025907,AK093879,AK097181,AL833189,AU280109,BC002890,BC009303,BC009876,BC112249,BC112251,BM676050,DA438802 NP_075384,EAW84120,EAW84121,BAB14357,BAB15278,BAC04240,AAH02890,AAH09876,AAI12250,AAI12252,Q8N9T8,AAI66660 Hs.709967 FLJ12949 protein-coding 1314251 KRIT1 KRIT1, ankyrin repeat containing 1358458,1598379,1580863 16037064,9285558,17954608,17562932,17440989,17290187,17148043,17043900,16769843,16712798,16373645,16321204,16239636,15718512,15489334,15079030,15046662,14702039,12877753,12853948,12810002,12690205,12682320,12477932,12204286,12172908,12140362,11941540,11914398,11854171,11831930,11741838,11342228,11161805,11161791,10814716,10545614,10508515,8530042,7604043,12556500,9341188 1358458,1598379 889 AK226131,AL049325,AY380057,AY380058,AY380059,AY380060,AY993944,BC094684,BC098442,BQ070587,BX648659,U90268,NM_194456,NM_001013406,NM_194454,NM_004912,AC000120,AY993945,CH236949,CH471091,U90269,AF296765,AF310133,AF388384,AJ294850,AK055305,AK056537,NM_194455 AAQ94072,AAQ94073,AAQ94074,AAQ94075,AAY25567,AAH94684,AAH98442,AAB58582,O00522,NP_919437,NP_919438,NP_001013424,NP_919436,NP_004903,AAS07420,AAY25568,EAL24152,EAW76854,EAW76855,AAC01535,AAG10220,AAG47774,AAM19465,CAC17608 Hs.531987 GDB:580824 CAM|CCM1 cerebral cavernous malformations 1 protein-coding 1351218 KRN1L keratin, cuticle, ultrahigh sulphur 1-like 3847 GDB:125258 1314657 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 15590835,17081983,16341674,16189514,15635413,15489334,14702039,12887920,12477932,12429849,11790298,11359931,11027267,8675026,7505766,15832179 11103 AC022507,NM_007043,AC121761,CH471054,AK022133,BC005225,BC014034,BC016778,BC026107,BC033887,BM839950,CR593218,CR604914,EF010919,U55766 AAB00557,A0FIK6,Q13601,ABM84478,ABM84479,ABM84480,ABM87514,NP_008974,EAW97309,AAH05225,AAH16778,AAH26107,AAH33887,ABJ97679 Hs.645517 GDB:9956796 HRB2|RIP-1 hiv-1 rev binding protein 2 protein-coding 1346930 KRT1 keratin 1 (epidermolytic hyperkeratosis) The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1600166,1580863 7507151,2581964,2580302,2470667,2461420,2450142,1602151,1284546,1281859,14499622,1381288,16831889,16789827,16565220,16417221,16361731,16344560,15797458,15489334,15324660,12665801,12648226,12603866,12477932,12406348,12406346,12064938,11982762,11897493,11841545,11591653,11531804,11286630,11286616,11204562,10942575,10903910,10844506,10688370,10597140,10232403,10066772,10053007,9856846,9520414,9261168,8999895,8780679,7687781,7536183,7528239,7512983,7507152,11290596,1380725,11549596 1600166 3848 NM_006121,AC055716,AF237621,AF304164,CH471054,M98776,X69725,X69758,BC063697,DB112126,M10938 NP_006112,AAF60327,AAG41947,EAW96642,AAB47721,AAH63697,AAA36153,P04264 Hs.80828 GDB:128198 CK1|EHK1|K1|KRT1A protein-coding 1354394 KRT10 keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris) This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. 1600168,1580863 17373842,2459124,1380725,17542994,16888010,16831889,16505000,15952740,15527767,15489334,15254692,14705805,12566451,12477932,12429849,12427098,12234709,11585925,10542138,10201536,10098704,9856845,9036939,8999895,7526210,7513736,7512983,7509230,7508181,7507152,7507150,7504553,2465278,2464696,2461420,2448602,2182100,1602151,1381287,1378806,1371013,1286667,14645504 1600168 3858 NM_000421,AC090283,CH471152,L20218,L20219,X14487,BC034697,CR625014,J04029,M19156,M77663 NP_000412,EAW60680,EAW60681,AAB59438,AAB59439,CAA32649,AAH34697,AAA60544,AAA59468,AAA59199,P13645,ABM84282,ABM87674 Hs.99936 GDB:118828 CK10|K10|KPP protein-coding 1312464 KRT12 keratin 12 (Meesmann corneal dystrophy) KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. 1600169,1580863 9171831,18245975,17653038,16831889,16352477,16227835,15148206,12665801,12543196,10781519,10644419,9399908,8759347 1600169 3859 NM_000223,AB007119,AC004231,AF137286,CH471152,CV573989,D78367 NP_000214,BAA25063,AAF61432,EAW60685,BAA11376,Q99456,AAI56642 Hs.66739 GDB:5583953 K12 protein-coding 1348943 KRT121P keratin 121 pseudogene 16831889,10692104 85349 NG_000944,AC021066,Y19216 HBD|KRTHBP4 keratin, hair, basic, pseudogene 4 pseudo 1351826 KRT122P keratin 122 pseudogene 16831889,10692104 85348 NG_000943,AC021066,Y19215 HBC|KRTHBP3 keratin, hair, basic, pseudogene 3 pseudo 1345423 KRT123P keratin 123 pseudogene 16831889,10692104 85344 NG_000940,AC078865,AC121757,Y19214 HBB|KRTHBP2 keratin, hair, basic, pseudogene 2 pseudo 1347780 KRT124P keratin 124 pseudogene 16831889,10692104 85340 NG_000938,AC055736,Y19213 HBA|KRTHBP1 keratin, hair, basic, pseudogene 1 pseudo 1606053 KRT126P keratin 126 pseudogene 16831889,15085952 643865 NG_005685,AC055716,BK003989 KRT pseudo 1349257 KRT13 keratin 13 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. 1304472,1580863 9373149,9284906,8125298,6205395,2483837,2477803,2475110,2472374,1385351,1385306,7493031,17081983,16949723,16831889,15489334,14702039,14600690,12477932,11906920,11591653,11379896,10722565,10561721,9714826 1304472 3860 NM_002274,NM_153490,AC019349,AF049259,CH471152,AK092276,AK223051,AK223077,AK290244,BC002661,BC077718,BC126184,CR591347,DR422220,X14640,X52426 NP_002265,NP_705694,AAC35754,EAW60740,EAW60741,BAC03847,BAD96771,BAD96797,BAF82933,AAH02661,AAH77718,AAI26185,CAA32786,CAA36673,P13646,ABM81578,ABM84758 Hs.654550 GDB:120740 CK13|K13|MGC161462|MGC3781 protein-coding 1316671 KRT14 keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. 1600173,1600174,1600175,1580863 12477932,12230514,12165543,11973334,11710919,10971341,10852826,10820403,10733662,10730767,10583131,9989794,9804357,9804355,9457912,9284105,8875963,8636216,8601736,7688405,7682883,7561171,7526933,7526926,7506606,7506097,6210150,6186381,2580298,2451124,1720261,1717157,1713141,11684708,7525408,2442174,18005116,17659012,17373842,17159913,17039244,16960809,16882168,16831889,16786515,16098032,15731013,15654986,15489334,14987259,14660619,12930305,12802069,12707098,12655565,12603865 1600173,1600174,1600175 3861 NM_000526,AC019349,AF186085,AF186086,AF186087,AF186088,AF186089,AF186090,CH471152,J00124,U11076,BC002690,BC019097,BC042437,BC094830,BT007186,CR598848,CR603127,CR613487,CR613905,CR618580,CR623868,CR624973,CR626072,M28646 NP_000517,AAF04034,AAF04035,AAF04036,AAF04037,AAF04038,AAF04039,EAW60745,EAW60746,EAW60747,EAW60748,AAB59562,AAH02690,AAH19097,AAH42437,AAH94830,AAP35850,AAA96689,P02533,Q13092,ABM81659,ABM83923,ABM84831 Hs.654380 GDB:132145 CK14|EBS3|EBS4|K14|NFJ protein-coding 1342709 KRT14L1 keratin 14-like 1 (20kb) 1694815 3863 GDB:120121 1353533 KRT14L2 keratin 14-like 2 (10kb) 1694815 3864 GDB:120122 1350748 KRT14L3 keratin 14-like 3 (6.6kb) 1694815 3865 GDB:120123 1354100 KRT14P keratin 14 pseudogene 729252 NG_007001,AL353997 GDB:118829 pseudo 1342638 KRT15 keratin 15 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. 1580863 16189514,2580298,2452170,16831889,15489334,15060141,14702039,12477932,10623642,10623468,10084315,6186381,2468493,2466616,2424675,1702379 3866 AC019349,AF202320,CH471152,AK090604,AK091239,AK122864,AL832226,BC002641,BC110649,BT007261,NM_002275,X07696 NP_002266,AAF27047,EAW60742,AAH02641,AAP35925,CAA30535,P19012,ABM83916,ABM87237 Hs.654570 GDB:120124 CK15|K15|K1CO protein-coding 1343206 KRT15L keratin 15-like 3867 GDB:1223805 1345926 KRT16 keratin 16 (focal non-epidermolytic palmoplantar keratoderma) The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. 1600184,1580863 15731013,2451124,8595410,7539673,18005116,17719747,17623675,16831889,15731018,15489334,15239676,12954631,12477932,11886499,11840567,11359398,10844556,10839714,10606845,10521820,8636216,7509163,7487986,2431270,1286667 1600184 3868 NM_005557,AC130686,AF061809,CH471152,M28432,M28433,M28434,M28435,M28436,M28437,M28438,M28439,S78514,AF061812,AK290853,BC039169,BM786499,CR600543,DC394235,S72493,S79867 NP_005548,AAD15829,EAW60749,AAA59460,AAB34564,AAC99326,BAF83542,AAH39169,AAB30058,AAB35421,P08779,Q16195,ABM82233,ABM87817 Hs.655160 GDB:136207 CK16|K16|K1CP|KRT16A|NEPPK protein-coding 1350330 KRT16L1 keratin 16-like 1 (16kb) 2451124,1694815 3869 GDB:120125 1352785 KRT16L2 keratin 16-like 2 (11kb) 1694815 3870 GDB:120126 1343343 KRT16P1 keratin 16 pseudogene 1 1281771 3871 GDB:136216 1353171 KRT17 keratin 17 KRT17 encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. 1600184,1580863 16189514,1281771,7539673,17719747,17388661,16964243,16831889,16638858,15795121,15489334,15102078,14761598,14702039,12577067,12477932,12466114,12429849,11886499,11874497,11591653,11348474,10571744,10341211,9786956,9767294,9008238,7577575,7529318,7523421,2442723,1690428,1372562 1600184 3872 NM_000422,AC130686,CH471152,S78515,Z19574,AK095342,BC000159,BC011901,BC056421,BC072018,BC072019,BX647923,CR595280,CR598735,CR598766,CR599390,CR599780,CR600963,CR603789,CR605895,CR608685,CR608860,CR612161,CR615020,CR618671,CR621301,CR621616,CR622158,X05803,X62571 NP_000413,EAW60750,EAW60751,EAW60752,EAW60753,AAB34565,CAA79626,BAC04534,AAH00159,AAH11901,AAH56421,AAH72018,AAH72019,CAA29248,CAA44451,Q04695,Q14666,ABM82027,ABM85209 Hs.2785 GDB:136211 K17|PC|PC2|PCHC1 protein-coding 1353793 KRT17P1 keratin 17 pseudogene 1 1281771 3873 GDB:136215 1352458 KRT17P2 keratin 17 pseudogene 2 11997339,1281771 339241 NG_002778,AL353997 GDB:136217 pseudo 2292114 KRT17P3 keratin 17 pseudogene 3 729682 XR_015626,XR_038024,XR_019109 pseudo 735767 KRT18 keratin 18 KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. 1624318,1580863 10954706,11684708,15529338,2434380,16424149,18349119,17954264,17617404,17545523,17542994,17353931,17034788,16892178,16831889,16189514,16143128,16046547,15987600,15952740,15838910,15831101,15822942,15731014,15731013,15489334,15368451,15339273,15316390,15314064,15194421,15102669,14648556,14556659,12724528,12717381,12577067,12477932,12473120,12429849,12388748,12235123,12191991,11955647,11923318,11917136,11788583,11581269,11356849,11278913,11162351,10891503,10852826,10809736,10747083,10625605,10444072,10022517,9786957,9630597,9560222,9524113,9409741,9373149,9367879,9353322,9298992,9150948,9011570,8522590,8125298,7541767,7538124,7536183,7529764,7523419,2469635,2454862,2454392,2434381,2422083,1705144,1699878,1693358,1374067,276901,12707304 1624318 3875 BC009754,BC020982,BC072017,BG753529,BT019412,CD106591,CR594446,CR595810,CR596888,CR597901,CR598014,CR599586,CR600203,CR600648,CR601746,CR603302,CR603470,CR603763,CR603859,CR604760,CR604789,CR605941,CR606789,CR609248,CR609809,CR609857,CR610278,NM_199187,NM_000224,AC107016,AF179904,CH471054,AK129587,AK223093,AY762101,BC000180,BC000698,BC004253,BC008636,CR610685,CR610807,CR611058,CR613989,CR616576,CR616919,CR619082,CR619165,CR620895,CR621642,CR622312,CR622674,CR622676,CR623435,CR623563,CR625199,CR625896,L32537,X12876,X12881,X12883 AAH20982,AAH72017,AAV38219,NP_954657,NP_000215,AAA59461,EAW96655,EAW96656,BAD96813,AAX07828,AAH00180,AAH00698,AAH04253,AAA73889,CAA31369,CAA31375,CAA31377,P05783,Q15899,ABM92172,ABM84641,AAH08636 Hs.406013 GDB:120127 CYK18|K18 protein-coding 1349327 KRT18P1 keratin 18 pseudogene 1 8824804 3879 NG_001024,AL662791,AL662865,AL929561,Z84476 GDB:9834319 dJ25J6.3 pseudo 1346138 KRT18P10 keratin 18 pseudogene 10 12815422,9847074 360019 NG_002937,AC012667 pseudo 1351883 KRT18P11 keratin 18 pseudogene 11 12477932 3876 NG_005219,AL121869 GDB:120128 KRT18L1 pseudo 1603421 KRT18P12 keratin 18 pseudogene 12 643471 XR_016765,XR_018670 Hs.647770 pseudo 1346728 KRT18P13 keratin 18 pseudogene 13 392371 XM_001726959,XM_001717774,XM_001726966,AL445531 XP_001727011,XP_001717826,XP_001727018 GDB:120129 KRT18L3 protein-coding 1349462 KRT18P14 keratin 18 pseudogene 14 119722 NG_007002,AC090692 GDB:120130 KRT18L4 pseudo 1642764 KRT18P15 keratin 18 pseudogene 15 729211 NG_006999,AC097639 KRT18L5 pseudo 1605494 KRT18P16 keratin 18 pseudogene 16 391827 XR_016620,XR_018420 Hs.646672 pseudo 1606103 KRT18P17 keratin 18 pseudogene 17 344866 XR_016516,XR_037743,XR_037953 pseudo 1605806 KRT18P18 keratin 18 pseudogene 18 342374 XR_017034,XR_018166 Hs.675252 pseudo 1605810 KRT18P19 keratin 18 pseudogene 19 339781 XR_016833,XR_039023,XR_019026 pseudo 1346679 KRT18P2 keratin 18 pseudogene 2 10830953 54044 NG_000918,AP001254,AP001679 GDB:10796366 pseudo 1606743 KRT18P20 keratin 18 pseudogene 20 121054 XR_016525,XR_019191 Hs.646407 pseudo 1604238 KRT18P21 keratin 18 pseudogene 21 132391 XR_016845,XR_018938 Hs.648019 pseudo 1606354 KRT18P22 keratin 18 pseudogene 22 442252 XR_016544,XR_019169 Hs.648043 pseudo 1606351 KRT18P23 keratin 18 pseudogene 23 642448 XR_016161,XR_018179 Hs.648272 pseudo 1603853 KRT18P24 keratin 18 pseudogene 24 340460 XR_016865,XR_037142,XR_018344 pseudo 1606084 KRT18P25 keratin 18 pseudogene 25 391647 XR_019153,XR_016223 Hs.646482 pseudo 1606042 KRT18P26 keratin 18 pseudogene 26 729634 XR_039730,XR_016032 pseudo 1605789 KRT18P27 keratin 27 pseudogene 27 390418 XR_016173 Hs.646602 pseudo 1606653 KRT18P28 keratin 18 pseudogene 28 343326 XR_017689,XR_039608,XR_019568 Hs.647720 pseudo 1604118 KRT18P29 keratin 18 pseudogene 29 729050 XR_015439 Hs.647846 pseudo 1342636 KRT18P3 keratin 18 pseudogene 3 170527 NG_001043,AL158175 GDB:11506181 bA359G22.1 pseudo 1606054 KRT18P30 keratin 18 pseudogene 30 643858 XR_042318,XR_042378,XR_042416 pseudo 1605142 KRT18P31 keratin 18 pseudogene 31 646723 NG_007924,AC026741 pseudo 1603817 KRT18P32 keratin 18 pseudogene 32 391179 XR_017012,XR_018953 Hs.693418 pseudo 1604126 KRT18P33 keratin 18 pseudogene 33 647162 XR_017456,XM_001719210,XR_019330 XP_001719262 pseudo 1606375 KRT18P34 keratin 18 pseudogene 34 391589 XR_017360,XR_019198 Hs.647934 pseudo 1606376 KRT18P35 keratin 18 pseudogene 35 391584 XR_017213 Hs.647903 pseudo 1605770 KRT18P36 keratin 18 pseudogene 36 442406 NG_006016,AL590726 pseudo 1604431 KRT18P37 keratin 18 pseudogene 37 392214 XR_016410,XR_019157 Hs.693364 pseudo 1605774 KRT18P38 keratin 18 pseudogene 38 441133 XR_016780,XR_018792 Hs.647000 pseudo 1603490 KRT18P39 keratin 18 pseudogene 39 344462 XR_018257 Hs.651043 pseudo 1351868 KRT18P4 keratin 18 pseudogene 4 391256 NG_001044,AL031685 GDB:11506183 dJ963K23.1 pseudo 1604437 KRT18P40 keratin 18 pseudogene 40 390904 XR_017288 Hs.611474 pseudo 1604472 KRT18P41 keratin 18 pseudogene 41 345430 XR_016695 Hs.693383 pseudo 1605495 KRT18P42 keratin 18 pseudogene 42 391819 XR_016386,XR_039234,XR_018193 Hs.693265 pseudo 1604228 KRT18P43 keratin 18 pseudogene 43 151825 XR_017412 Hs.647927 pseudo 1605288 KRT18P44 keratin 18 pseudogene 44 139748 XM_001719134,XM_001715438,XM_001720462,AL031903,CH471107 XP_001719186,XP_001715490,XP_001720514,EAX11838 Hs.647487 protein-coding 1605496 KRT18P45 keratin 18 pseudogene 45 391803 XR_016739,XR_018462 Hs.646957 pseudo 1606643 KRT18P46 keratin 18 pseudogene 46 391458 XM_001720115,XM_001720107,XM_001725147,AC062022,CH471058 XP_001720167,XP_001720159,XP_001725199,EAX11366 Hs.647879 protein-coding 1605192 KRT18P47 keratin 18 pseudogene 47 390634 XR_016362,XR_018618 Hs.647316 pseudo 1603493 KRT18P48 keratin 18 pseudogene 48 340598 NG_006017,AF274858 pseudo 1603466 KRT18P49 keratin 18 pseudogene 49 392516 XR_016590,XM_001714362,XR_018216 XP_001714414 pseudo 1345001 KRT18P5 keratin 18 pseudogene 5 728300 NG_007006,AC007731 GDB:11510558 pseudo 1606356 KRT18P50 keratin 18 pseudogene 50 442236 XM_001716480,XM_001719397,XM_001721473,AL034348,CH471051 XP_001716532,XP_001719449,XP_001721525,EAW48513 protein-coding 1605788 KRT18P51 keratin 18 pseudogene 51 391703 XR_017091 Hs.648026 pseudo 1354362 KRT18P6 keratin 18 pseudogene 6 122592 NG_007005,AL160231 pseudo 1350297 KRT18P7 keratin 18 pseudogene 7 338019 1346931 KRT18P8 keratin 18 pseudogene 8 125242 NG_006995,AP000902 pseudo 1343332 KRT18P9 keratin 18 pseudogene 9 442205 NG_006996,AL354740 bA513I15.2 pseudo 733914 KRT19 keratin 19 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. 1580863 16000376,2448790,10037815,18329483,18095993,18080980,18059224,17955299,17851895,17728499,17697728,17652531,17558891,17509943,17492378,17450257,17071045,16965897,16892178,16879391,16831889,16804977,16681689,16627685,16344560,16189514,16083285,15952740,15870932,15825149,15737616,15716612,15489334,15342556,14761598,14593079,14556657,12820323,12697249,12477932,11682035,10859317,10809736,10623642,10444072,10212274,9505886,9284906,8661035,7534649,2469734,2468493,2458477,2447559,2428612,1286667 3880 NM_002276,AC019349,AF202321,CH471152,J03607,AB041267,AB041268,BC002539,BC007628,BC010409,BC067744,BC084574,BG490639,BG750971,BP328445,DA068330,Y00503 NP_002267,AAF27048,EAW60743,AAA36044,BAA94607,BAA94608,AAH02539,AAH07628,AAH10409,AAH67744,AAH84574,CAA68556,P08727,Q9P1Y3,ABM83105,ABM86299 Hs.654568 GDB:120131 CK19|K19|K1CS|MGC15366 protein-coding 1605772 KRT19P1 keratin 19 pseudogene 1 441160 XR_016255,XR_018678 Hs.646306 pseudo 1605853 KRT19P2 keratin 19 pseudogene 2 160313 NG_002383,AC117494,U85961,AB041269,AB041270 BAA94609,BAA94610,A0A4R5,Q9NPD2 Hs.527883 pseudo 1606625 KRT19P3 keratin 19 pseudogene 3 442114 XR_016738,XR_018874 Hs.647970 pseudo 1342754 KRT2 keratin 2 (epidermal ichthyosis bullosa of Siemens) The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1600192,1580863 17373842,1380918,7524919,12598329,15737202,17408392,16831889,15949009,15489334,12477932,11531804,11167982,10688369,10620137,10564334,10233323,10233306,10084318,9833038,9804344,9204966,9036938,8999895,8077693,7521371 1600192 3849 NM_000423,AC055715,AC055716,AF019084,CH471054,AL598277,BC096294,BC099643,BC099644,M99061 NP_000414,AAB81946,EAW96641,AAH96294,AAH99643,AAH99644,AAC83410,P35908 Hs.707 GDB:407640 KRT2A|KRT2E|KRTE|MGC116967|MGC116968 protein-coding 1347381 KRT20 keratin 20 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. 1580863 11642721,11279113,7689500,1696264,16608857,8359595,12857878,10973561,18265645,18092953,18072261,18069772,17593078,17525485,17378731,17240035,16831889,16722930,16473461,16362976,16286979,16189514,16083285,15871722,15489334,15371952,14631371,12954496,12894563,12636102,12515621,12477932,11962749,11857318,11844829 54474 NM_019010,AC004231,CH471152,X73501,BC031559,X73502 NP_061883,EAW60686,CAA51913,AAH31559,CAA51914,P35900,ABM81709,ABM87753 Hs.84905 CD20|CK20|K20|KRT21|MGC35423 protein-coding 1342839 KRT22 keratin 22 3154 GDB:3837791 1606170 KRT222P keratin 222 pseudogene 16831889,15085952,14702039,12477932 125113 NM_152349,AC073508,BK004052,CH471152,AK092967,BC032815,BX538083,CV570846,DB465511,DB543411 NP_689562,DAA04486,EAW60672,EAW60673,AAH32815,CAD98007,Q7Z368,Q8N1A0 Hs.6920 KA21|MGC45562 protein-coding 1602018 KRT223P keratin 223 pseudogene 16831889 643115 XR_016340,XR_018285 Hs.527936 pseudo 1318841 KRT23 keratin 23 (histone deacetylase inducible) The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. 1580863 16831889,15081423,14702039,12477932,12015898,11683385,11135429,9373149,8125298 25984 CR626661,NM_015515,AC004231,CH471152,AF102848,AK002047,AK225866,AK289449,AL117538,BC028356,CR590444,CR595740,CR596166,CR599508,CR599728,CR601789,CR602144,CR606308,CR607165,CR608150,CR608577,CR608727,CR611282,CR611999,CR612571,CR617267,CR618027,CR618444,CR623811,CR624508 Q8TC04,Q9C075,Q9UFN7,ABM82566,ABM85755,NP_056330,EAW60687,EAW60688,EAW60689,AAK00050,BAA92054,BAF82138,CAB55984,AAH28356 Hs.9029 GDB:10796806 CK23|DKFZP434G032|HAIK1|K23|MGC26158 protein-coding 1349415 KRT24 keratin 24 16831889,12477932,12230514 192666 NM_019016,AC090283,CH471152,AK000268,BC111964,BC111968,CR607026,CR609628 NP_061889,EAW60675,BAA91044,AAI11969,Q2M2I5,Q2M2I9 Hs.87383 GDB:11508972 FLJ20261|MGC138169|MGC138173 protein-coding 1353851 KRT25 keratin 25 1580863 16831889,15617563,15085952 147183 NM_181534,AC090283,CH471152,AJ564204,AK129503 NP_853512,EAW60676,CAD91904,BAC85169,Q6ZPD6,Q7Z3Z0,AAI40409,AAI46489 Hs.55412 KRT25A protein-coding 1343053 KRT26 keratin 26 1580863 16831889,15617563,12477932 353288 NM_181539,AC090283,CH471152,AJ564205,BC132951,BC136896 NP_853517,EAW60677,CAD91905,AAI32952,AAI36897,Q7Z3Y9 Hs.592133 KRT25B keratin 25b protein-coding 1345701 KRT27 keratin 27 1580863 16831889,15629149,15617563,11591653,10329736 342574 NM_181537,AC090283,CH471152,AF086481,AJ564206 NP_853515,EAW60678,CAD91906,Q7Z3Y8,AAI66634 Hs.59363 KRT25C protein-coding 1319917 KRT28 keratin 28 1580863 16831889,15617563 162605 NM_181535,AC090283,CH471152,AJ564207,AK129827 NP_853513,EAW60679,CAD91907,BAC85240,Q7Z3Y7,AAI46369,AAI48795 Hs.59736 KRT25D protein-coding 1353879 KRT3 keratin 3 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmanns Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1580863 15737194,8889548,7510223,6186379,2439698,9171831,16831889,16227835 3850 NM_057088,AC107016,CH471054,X05418,X05419,X05420,X05421,AJ628418,BM672628,CV571376 NP_476429,EAW96645,EAW96646,CAA28991,CAA28992,CAA28993,CAA28994,CAA28995,CAA28996,CAF31522,P12035,AAI56126 Hs.680652 GDB:136276 CK3|K3 protein-coding 1315199 KRT31 keratin 31 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 17353931,9405442,7578244,16831889,16713569,15140206,12477932,10391933,9756910,9457912,7686952,7528047,2465162 3881 NG_000018,AC003958,CH471152,S75797,Y16787,BC114468,X86570,NM_002277 EAW60730,AAB32812,CAA76383,AAI14469,CAA60378,Q15323,NP_002268,Q16275,Q9UE12 Hs.41696 GDB:9836339 HA1|Ha-1|KRTHA1|MGC138630|hHa1 protein-coding 1313247 KRT32 keratin 32 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 17353931,7556444,16831889,12543931,10391933,8823373,7686952,2456239 3882 NM_002278,AC019349,CH471152,X90761,AI190798,X81419 NP_002269,EAW60735,CAA62284,CAA57179,Q14532,AAI46287,AAI48741 Hs.41752 GDB:9836340 HA2|HKA2|KRTHA2|hHa2 protein-coding 1314759 KRT33A keratin 33A The protein encoded by this gene is a member of the keratin gene family. It is one of the type I hair keratin genes which are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, KRTHA3A and KRTHA3B. 1580863 17353931,16831889,15617563,12477932,10391933,9756910,7686952,7565656 3883 NM_004138,NG_000018,AC003958,CH471152,X82650,Y16788,AJ633621,BC069135 NP_004129,EAW60727,CAA76384,CAG17613,AAH69135,O76009,Q6NTB9,Q6ZZB9 Hs.512579 GDB:9836341 HA3I|Ha-3I|KRTHA3A|Krt1-3|hHa3-I protein-coding 1346723 KRT33B keratin 33B The protein encoded by this gene is a member of the keratin gene family. It is one of the type I hair keratin genes which are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, KRTHA3A and KRTHA3B. 1580863 17353931,16831889,15489334,14718574,12477932,10391933,9756910,7686952,7565656 3884 NM_002279,NG_000018,AC003958,CH471152,Y16789,BC009971,X82634 NP_002270,EAW60728,CAA76385,AAH09971,CAA57956,Q14525,ABM84378,ABM87285 Hs.32950 GDB:9836342 HA3II|Ha-3II|KRTHA3A|KRTHA3B|hHa3-II protein-coding 1350893 KRT34 keratin 34 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 17353931,9756910,16831889,16286979,12477932,10391933,7686952,2431943 3885 NM_021013,NG_000018,AC003958,CH471152,Y16790,BC033252,BC041070 NP_066293,EAW60729,CAA76386,AAH33252,AAH41070,O76011,Q8IUT8,Q8N4W2 Hs.296942 GDB:9836349 HA4|Ha-4|KRTHA4|hHa4 protein-coding 1354440 KRT35 keratin 35 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 8823373,16831889,15140206,10391933,9756910,7686952,17353931 3886 NM_002280,AC019349,CH471152,X90762,Y16791,X90763 NP_002271,EAW60736,EAW60737,CAA62285,CAA76387,CAA62286,Q92764,AAI40366,AAI46509 Hs.73082 GDB:9836348 HA5|Ha-5|KRTHA5|hHa5 protein-coding 1314039 KRT36 keratin 36 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 17353931,9756910,17081983,16831889,12477932,10391933,7979242,7686952 8689 NM_003771,AC019349,CH471152,Y16792,BC043581 NP_003762,EAW60738,EAW60739,CAA76388,AAH43581,O76013,Q86XG4 Hs.248189 GDB:9956307 HA6|KRTHA6|hHa6 protein-coding 1346996 KRT37 keratin 37 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 9756910,16831889,15617563,10391933,7686952 8688 NM_003770,NG_000018,AC003958,CH471152,Y16793,AJ786655,AK123843 NP_003761,EAW60731,EAW60732,EAW60733,CAA76389,CAH10350,BAC85705,O76014,Q6A165,Q6ZW03,AAI40320 Hs.463024,Hs.673852 GDB:9956301 HA7|KRTHA7|hHa7 keratin, hair, acidic, 7 protein-coding 1350539 KRT38 keratin 38 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. 1580863 9756910,16831889,15617563,15248378,10391933,7686952 8687 NM_006771,AC019349,CH471152,Y16794,AJ786656,BC131715 NP_006762,EAW60734,CAA76390,CAH10351,AAI31716,O76015,Q6A164 Hs.248188 GDB:9956295 HA8|KRTHA8|hHa8 keratin, hair, acidic, 8 protein-coding 1604916 KRT39 keratin 39 17301834,16831889,15617563,15085952 390792 NM_213656,AC004231,AC007455,CH471152,AJ786657,BC157887,BK004054 NP_998821,EAW60690,CAH10352,AAI57888,DAA04487,Q6A163,AAI60073 Hs.709735 KA35 protein-coding 1342912 KRT4 keratin 4 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1600193,1580863 2452170,17709412,16831889,15489334,14702039,12828738,12477932,11132762,10652003,9727005,9452892,7684424,7493030,2466616,2433356 1600193 3851 NM_002272,NG_007380,AC107016,AF066051,AY043326,CH471054,X61028,X97566,AK056254,AK098110,BC003630,BC012867,BC032132,BC042174,X07695,X67683 NP_002263,AAC34807,AAL14196,EAW96647,CAA43362,AAH03630,AAH32132,AAH42174,CAA30534,CAA47914,P19013,Q6PIN2 Hs.654610 GDB:120697 CK4|CYK4|FLJ31692|K4 protein-coding 1606169 KRT40 keratin 40 17301834,16831889,15617563,15085952,14702039,12477932 125115 NM_182497,AC007455,CH471152,AJ786658,AK093919,BC130396,BC150174,BC150191,BK004055 NP_872303,EAW60691,EAW60692,CAH10353,BAC04250,AAI30397,AAI50175,AAI50192,DAA04488,Q6A162,Q8N9S8 Hs.567666 FLJ36600|KA36 protein-coding 1348786 KRT41P keratin 41 pseudogene 16831889,9756910 8686 NG_000018,AC003958,Y16795 GDB:9956290 KRTHAP1 keratin, hair, acidic, pseudogene 1 pseudo 1604961 KRT42P keratin 42 pseudogene 16831889,14702039 284116 NG_006516,AC130686,AK095281,AK125965 BAC86365,Q6ZU61 Hs.434161 pseudo 1343872 KRT5 keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1600195,1600196,1580863 10727209,7520042,18261623,18064689,18035671,17855059,17650314,17549391,17388661,17229601,17039244,16882168,16831889,16786515,16465624,16152605,16098032,15731015,9036937,8999895,8807337,8799157,8757772,8636216,8595431,7688477,7686424,7684424,7537780,7534039,7525601,7506097,2476664,2456903,2455002,2447486,1720261,1718160,1713141,1378478,1372711,1284070,9129237,15731013,15647384,15618924,15489334,15347343,15324323,15140024,14723728,14702039,12925204,12802069,12707098,12655565,12648226,12477932,12466114,11973334,11591653,11407989,11407988,11167681,10903910,10852826,10782015,10730767,10494094,10383750,10234505,9989794,9804357,9786957,9740251,9406827 1600195,1600196 3852 AC055736,AF274874,CH471054,D50666,M28496,S56203,AK093720,AY373434,BC024292,BC042132,BC071906,M19723,M21389,NM_000424 ABM87091,ABM83772,NP_000415,AAF97931,EAW96632,EAW96633,EAW96634,EAW96635,BAA09320,AAD14917,AAQ81588,AAH24292,AAH42132,AAH71906,AAA36145,AAA36143,P13647,Q9UEK9 Hs.433845 GDB:128110 CK5|DDD|EBS2|K5|KRT5A protein-coding 1346482 KRT6A keratin 6A The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1580863 16189514,7543104,7545493,2410904,17719747,17650314,16831889,16344560,15737194,15489334,12477932,11886499,7525601,6191871,1713141 3853 NM_005554,AC055736,CH471054,L42575,L42576,L42577,L42578,L42579,L42580,L42581,L42582,L42583,L42593,L42601,L42610,V01516,AK290245,BC008807,BC014152,BC069269,BC125058,BC139753,BG059253,BT006899,CR612432,DA451441 NP_005545,EAW96631,AAC41767,AAC41769,AAB60696,CAA24760,BAF82934,AAH08807,AAH14152,AAH69269,AAI25059,AAI39754,AAP35545,P02538,AAP36273,ABM92236,ABM84714 Hs.700779 GDB:128111 CK6A|CK6C|CK6D|K6A|K6C|K6D|KRT6C|KRT6D protein-coding 1349887 KRT6B keratin 6B The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. 1580863 9618173,16831889,16189514,15489334,12477932,7543104,2470667,2410904,1713141,1286667,1284199 3854 NM_005555,AC055736,CH471054,L00205,L42584,L42585,L42586,L42587,L42588,L42589,L42590,L42591,L42592,M11229,BC034535,BG679927,L42612 NP_005546,EAW96626,EAW96627,AAA59466,AAC41768,AAH34535,AAC41771,P04259,ABM82253,ABM85437 Hs.433845 GDB:128113 CK6B|K6B|KRTL1|PC2 protein-coding 1351268 KRT6C keratin 6C 1580863 9054461,16831889,16541075,12477932,11683385,7543104 286887 NM_173086,AC055736,BK000962,CH471054,BC110639,BC130583,BC130585,L42611 NP_775109,DAA01484,EAW96628,EAW96629,AAI10640,AAI30584,AAI30586,AAC41770,P48668 Hs.433845 KRT6E|MGC102925|MGC163455|MGC163457 keratin 6e protein-coding 1344441 KRT6C keratin 6C 1580863 7543104 140446 P48666 NM_058242,L42593 1347673 KRT6D keratin 6D 1580863 7543104,16831889 140466 L42610 AAB60696 CK6D|K6D protein-coding 1322014 KRT7 keratin 7 The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. 1580863 11169732,12072504,10492017,2459129,2415537,18317225,18092953,18042078,17593078,17388661,17081983,16879391,16831889,16483709,15894926,15782174,15502805,15489654,15489334,15371952,14631371,14513050,12577067,12477932,12359226,11962749,11888936,11840567,9734130,9614373,9373149,8895530,8125298,2436934,1713141,16189514,11591653 3855 AC021066,AF509891,AF509892,CH471111,X13320,AF509887,AJ238246,AK025881,AK128505,AK128848,AK129924,AK225498,BC002700,BC009521,NM_005556,BC042076,BC107082,BC107083,BE740515,BE744321,BU527162,CR599089,X03212,Z36852 NP_005547,AAN64035,EAW58240,EAW58241,CAA31695,AAN64031,CAB41416,AAH02700,AAH09521,AAI07083,AAI07084,CAA26956,P08729,Q3KNV1,Q96GE1,ABM83922,ABM87243 Hs.411501,Hs.670221 GDB:128114 CK7|K2C7|K7|MGC129731|MGC3625|SCL protein-coding 1604251 KRT71 keratin 71 K6IRS1 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair follicles.[supplied by OMIM] 16831889,14702039,12648212,12477932,11982755 112802 BC103918,NM_033448,AC055736,CH471054,AJ308599,AJ308600,AJ308601,AK122795,BC103917 AAI03918,AAI03919,Q3SY84,NP_258259,EAW96636,CAC43429 Hs.660007 K6IRS1|KRT6IRS|KRT6IRS1|MGC119390|MGC119391 protein-coding 1605869 KRT72 keratin 72 K6IRS2 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair follicles.[supplied by OMIM] 17388661,16831889,14702039,12648212,12477932,11703281 140807 NM_080747,AC055715,AY033496,CH471054,AK093060,AY033495,BC113686 NP_542785,AAK55109,EAW96638,EAW96639,BAC04039,AAK55108,AAI13687,Q14CN4 Hs.662013 K6IRS2|K6irs|KRT6|KRT6IRS2|MGC142246 protein-coding 1605236 KRT73 keratin 73 K6IRS3 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair follicles.[supplied by OMIM] 16831889,12648212,12477932 319101 NM_175068,AC055715,CH471054,AJ508776,BC109212,BC109213 NP_778238,EAW96640,CAD48513,AAI09213,AAI09214,Q86Y46 Hs.55410 IRT6IRS3|K6IRS3|KRT6IRS3|MGC129635|MGC129636 protein-coding 1605882 KRT74 keratin 74 K6IRS4 belongs to a family of type II keratins that are specifically expressed in the inner root sheath of hair follicles.[supplied by OMIM] 16831889,12648212,11683385 121391 NM_175053,AC055715,BK000977,CH471054,AF086480,AI092341,AJ508777 NP_778223,DAA00404,EAW96637,CAD48514,Q7RTS7 Hs.660125 K6IRS4|KRT5C|KRT6IRS4 protein-coding 1603409 KRT75 keratin 75 9856802,16831889,15292489,10692104,9373149,8125298 9119 NM_004693,AC055736,CH471054,Y19212,AK225962,Y17282 NP_004684,EAW96625,CAB76832,CAA76730,O95678 Hs.697046 K6HF protein-coding 1605387 KRT76 keratin 76 1282112,16831889,15737194 51350 NM_015848,AC068988,AC139763,AJ564103,CH471054,M99063 NP_056932,CAD91891,EAW96644,AAA35746,Q01546 Hs.654392 HUMCYT2A|KRT2B|KRT2P protein-coding 1352886 KRT77 keratin 77 Keratins, such as KRT77, are filament proteins that make up one of the major structural fibers of epithelial cells (Rogers et al., 2005 [PubMed 15737194]).[supplied by OMIM] 1580863 16831889,16541075,16117782,15737194,12477932,11683385,17353931 374454 NM_175078,AC055716,BK000975,CH471054,AJ564104,BC033366,BC118598,BC122558 Q147W7,NP_778253,DAA00402,EAW96643,CAD91892,AAI18599,AAI22559,Q0IIN1,Q7Z794 Hs.334989 K1B|KRT1B|MGC148087 keratin 1b protein-coding 1606944 KRT78 keratin 78 This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. 17353931,16831889,16344560,15737194,15085952,14702039,11792552,11683385,10692104,2433356 196374 BX647095,DA667429,NM_173352,AC107016,BK000646,CH471054,AI143912,AK096419,AK290901 CAI46001,Q8N1N4,AAI41555,NP_775487,DAA00377,EAW96649,EAW96650,BAC04782,BAF83590 Hs.665267 K5B|Kb40 protein-coding 1602275 KRT79 keratin 79 Keratins, such as KRT6L, are filament proteins that make up one of the major structural fibers of epithelial cells (Rogers et al., 2005 [PubMed 15737194]).[supplied by OMIM] 15737194,12477932,11683385 338785 NM_175834,AC107016,BK000976,CH471054,AJ564105,AK130156,BC039148,BC063648 NP_787028,DAA00403,EAW96648,CAD91893,AAH39148,AAH63648,Q5XKE5 Hs.654610 FLJ26646|K6L|KRT6L protein-coding 735536 KRT8 keratin 8 1600062,1580863 10954706,11684708,16608857,17954264,17509943,17373842,17353931,17213200,17126832,17081983,17039343,17034788,16964243,16911694,16892178,16831889,16818723,16565220,16381901,16341674,16327287,16143128,16083285,16000376,15972820,15952740,15846844,15838910,15822942,15737616,15731013,15529338,15489336,15489334,15368451,15319370,15314064,15252834,15248378,15235035,15194421,15090596,14756564,14568682,14556659,12868678,12724528,12577067,12477932,12474161,12429849,12388748,12367790,12366696,12235123,12218095,12168793,11923318,11790298,11788583,11781324,11581269,11372009,11076863,10852826,10809736,9988531,9630597,9560222,9459484,9409741,9373149,9211903,9150948,9054461,8125298,8037842,6186379,2482017,2471065,2467436,2459839,2456993,2434381,1711732,1705144,1692965,1691124,1690513,1371500,16189514 1600062 3856 AC107016,CH471054,M34482,X74981,AI150751,AK222941,AK290938,AK315826,BC000654,BC008200,BC011373,BC063513,BC073760,BC075839,BM854215,BX417476,NM_002273,CR590215,CR590701,CR590770,CR590847,CR591529,CR591747,CR591891,CR592000,CR592074,CR592661,CR593206,CR593601,CR593725,CR593893,CR593968,CR595061,CR595210,CR595443,CR595521,CR596245,CR596503,CR597041,CR597269,CR597662,CR597872,CR598939,CR599548,CR599921,CR600083,CR600505,CR601186,CR618935,CR619053,CR619074,CR619675,CR620101,CR620184,CR620608,CR620850,CR621272,CR621908,CR621999,CR622280,CR622722,CR622856,CR623630,CR624027,CR624626,CR624959,CR625626,CR625685,CR625711,CR625900,CR626097,CR626602,CR626612,CR626613,M26512,M34225,M77025,U76549,X12882,X74929,X98614,CR602110,CR602175,CR602560,CR602669,CR602866,CR603149,CR603822,CR604045,CR604368,CR605138,CR605238,CR605272,CR605459,CR605586,CR605969,CR606768,CR606810,CR607028,CR607281,CR607513,CR607546,CR607818,CR607975,CR608394,CR609791,CR610669,CR610938,CR611060,CR611526,CR611683,CR611761,CR611843,CR611937,CR611949,CR613740,CR615013,CR615200,CR615554,CR616154,CR616278,CR616496,CR616504,CR601787,CR617220,CR617828,CR617849,CR618193 NP_002264,EAW96651,EAW96652,EAW96653,EAW96654,AAA35763,CAA52916,BAD96661,BAF83627,BAF98717,AAH00654,AAH08200,AAH11373,AAH63513,AAH73760,AAH75839,AAA51542,AAA35748,AAB18966,CAA31376,CAA52882,CAA67203,P05787,Q0JUP1,Q0JUV7,Q7L4M3,Q969I0,CAL37704,CAL37770,ABM83563,ABM86801 Hs.533782 GDB:118830 CARD2|CK8|CYK8|K2C8|K8|KO protein-coding 1606454 KRT80 keratin 80 Keratins, such as KRT80, are filament proteins that make up one of the major structural fibers of epithelial cells (Rogers et al., 2005 [PubMed 15737194]).[supplied by OMIM] 16831889,15737194,12477932 144501 NM_001081492,NM_182507,AC021066,CH471111,AJ717743,AL162069,BC033114,BC047308,BC065180,BU151185,BX537567,CR596084 NP_001074961,NP_872313,EAW58235,EAW58236,EAW58237,CAG30732,AAH65180,CAD97784,Q6KB66 Hs.140978 KB20 protein-coding 1352979 KRT81 keratin 81 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. 1600197,1580863 16189514,16831889,15797458,15489334,15231748,14520698,12477932,11792552,10692104,9665406,9457912,9402962,7556444,7528047,7490069 1600197 3887 NM_002281,AC121757,AY121753,AY123848,CH471111,S75796,Y13621,Y19206,BC006452,BC021241,BC031978,BC117465,BC117467,X80197,X81420 NP_002272,AAM94951,AAM92877,EAW58243,AAB32813,CAA73943,CAB76826,AAH06452,AAH21241,AAI17466,AAI17468,CAA56488,CAA57180,Q14533,Q17R48,Q8N120,Q9NSB5 Hs.658118 GDB:9836352 HB1|Hb-1|KRTHB1|MLN137|ghHkb1|hHAKB2-1 protein-coding 1350237 KRT82 keratin 82 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. 1580863 17353931,10692104,16831889,15737194,2431943 3888 NM_033033,AC078865,CH471054,Y19207,AJ628419 NP_149022,EAW96624,CAB76827,CAF31523,Q701L7,Q9NSB4,AAI48498,AAI53100 Hs.134640 GDB:9836353 HB2|Hb-2|KRTHB2 protein-coding 1318342 KRT83 keratin 83 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. 1580863 9084137,16831889,15797458,15744029,12477932,11445569,10692104 3889 NM_002282,XM_001714070,AC121757,Y19208,BC069546,BC126935,BC128063,X99141 NP_002273,XP_001714122,CAB76828,AAH69546,AAI26936,AAI28064,CAA67578,P78385,Q6NT21 Hs.661428 GDB:9836354 HB3|Hb-3|KRTHB3|MGC141663 protein-coding 1343377 KRT84 keratin 84 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. 1580863 10692104,16831889,15737194,15489334,12477932,2431943 3890 NM_033045,AC078865,CH471054,Y19209,AJ628420,BC069647 NP_149034,EAW96623,CAB76829,CAF31524,AAH69647,Q701L6,Q9NSB2 Hs.272336 GDB:9836355 HB4|KRTHB4 protein-coding 1350889 KRT85 keratin 85 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. 1580863 17353931,9084137,16831889,16525032,10727209,10692104,10391933,8823373 3891 NM_002283,AC078865,CH471054,Y19210,X99140 NP_002274,EAW96622,CAB76830,CAA67577,P78386,AAI66627 Hs.182507 GDB:9836428 HB5|Hb-5|KRTHB5|hHb5 protein-coding 1348087 KRT86 keratin 86 The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB3, is found primarily in the hair cortex. Mutations in this gene and KRTHB1 have been observed in patients with a rare dominant hair disease, monilethrix. 1600198,1580863 16831889,15797458,15489334,15183744,12477932,10692104,10594761,10504448,10469314,9457912,9402962,9241275,9084137,7556444 1600198 3892 AJ000263,AY152543,AY152544,AY152545,Y19211,AK057905,AK292237,BC069585,X99142,NM_002284,AC121757,AF416705,AF416706 CAA03979,AAN75225,AAN75226,AAN75227,CAB76831,BAF84926,AAH69585,CAA67579,O43790,Q6YFL2,Q6YFL4,Q9NSB0,NP_002275,AAN04663,AAN04664 Hs.278658 GDB:702078 FLJ25176|HB6|Hb1|KRTHB1|KRTHB6|MNX|hHb6 protein-coding 1347354 KRT8P1 keratin 8 pseudogene 1 338017 NG_007444,AL359950 pseudo 1603845 KRT8P10 keratin 8 pseudogene 10 344320 XR_016769,XR_018991 Hs.647887 pseudo 1345213 KRT8P11 keratin 8 pseudogene 11 347265 NG_005157,AL137067 CAC08001 KRT8L1|RP11-13B9.3 keratin 8-like 1 pseudo 1605908 KRT8P12 keratin 8 pseudogene 12 12477932 90133 AC078868,AL133645,BC125159,NG_005512,BC125160 AAI25160,AAI25161,Q08AI3 Hs.595594 KRT8L2 pseudo 1604854 KRT8P13 keratin 8 pseudogene 13 730023 NG_005969,AC008041 pseudo 1606394 KRT8P14 keratin 8 pseudogene 14 347333 XR_018299 Hs.650946 pseudo 1604128 KRT8P15 keratin 8 pseudogene 15 645834 XR_016994 Hs.679950 pseudo 1603537 KRT8P16 keratin 8 pseudogene 16 220959 NG_006099,AC025946,AL139403 pseudo 1603815 KRT8P17 keratin 8 pseudogene 17 392479 NG_005968,AL034396 pseudo 1606855 KRT8P18 keratin 8 pseudogene 18 442078 XR_016900 Hs.646842 pseudo 1606615 KRT8P19 keratin 8 pseudogene 19 644998 XR_016847,XR_018864 Hs.648222 pseudo 1344322 KRT8P2 keratin 8 pseudogene 2 338018 1605481 KRT8P20 keratin 8 pseudogene 20 441218 XR_017450 Hs.648116 pseudo 1605004 KRT8P21 keratin 8 pseudogene 21 126811 XR_017099 Hs.647670 pseudo 1605536 KRT8P22 keratin 8 pseudogene 22 342419 XR_017139,XR_018318 Hs.647373 pseudo 1605193 KRT8P23 keratin 8 pseudogene 23 390610 XR_017341,XR_018205 Hs.646498,Hs.693310 pseudo 1606847 KRT8P24 keratin 8 pseudogene 24 729344 XR_015516 Hs.646513 pseudo 1605780 KRT8P25 keratin 8 pseudogene 25 402134 XR_016404,XR_018233 Hs.646835,Hs.651041 pseudo 1606378 KRT8P26 keratin 8 pseudogene 26 390211 NG_005967,AP001266,AP001362 pseudo 1605767 KRT8P27 keratin 8 pseudogene 27 442455 XR_016843,XR_018721 Hs.648315 pseudo 1604147 KRT8P28 keratin 8 pseudogene 28 391099 XR_016926,XR_018349 Hs.693426 pseudo 1603818 KRT8P29 keratin 8 pseudogene 29 391155 XR_019212 Hs.651059 pseudo 1353644 KRT8P3 keratin 8 pseudogene 3 399551 1606641 KRT8P30 keratin 8 pseudogene 30 391485 XR_017172,XR_018532 Hs.693407 pseudo 1350995 KRT8P4 keratin 8 pseudogene 4 399552 1348279 KRT8P5 keratin 8 pseudogene 5 342732 NG_007003,AC110014 pseudo 1603465 KRT8P6 keratin 8 pseudogene 6 392552 XR_016747,XR_018151 Hs.647488 pseudo 1603718 KRT8P7 keratin 8 pseudogene 7 729131 XR_015461 Hs.595921 pseudo 1604904 KRT8P8 keratin 8 pseudogene 8 402429 XR_016306,XR_018415 Hs.648362 pseudo 1605194 KRT8P9 keratin 8 pseudogene 9 390601 XR_017231,XR_039426,XR_019144 pseudo 736715 KRT9 keratin 9 (epidermolytic palmoplantar keratoderma) This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. 1600065,1580863 17373842,8647270,10218578,7507869,16831889,16043929,14675368,12532041,12477932,11774369,9856842,9204965,7532199,7523529,7516304,7512862,7511021,7504553,2140676,1385292 1600065 3857 NM_000226,AC019349,CH471152,X75015,AB001594,BC121170,S69510,Z29074 NP_000217,EAW60744,CAA52924,BAA19418,AAI21171,AAC60619,CAA82315,P35527 Hs.654569 GDB:303970 EPPK|K9 protein-coding 1345098 KRTAP1-1 keratin associated protein 1-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,12228244,11841537,11279113 81851 NM_030967,AC007455,CH471152,X63337,AB052868,AB052934,AB055057,AJ406926,BC069321,BC069450,BC105069,BC105071 NP_112229,EAW60699,CAA44937,BAB61024,BAB61026,BAB61031,CAC27565,AAI05070,AAI05072,Q07627 Hs.247934 GDB:11510084 HB2A|KAP1.1|KAP1.1A|KAP1.1B|KAP1.6|KAP1.7|KRTAP1.1|KRTAP1A|hKAP1.7 protein-coding 1351871 KRTAP1-3 keratin associated protein 1-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1279380,15489334,12477932,12228244,11279113 81850 NM_030966,AB081339,AC007455,CH471152,AJ406927,BC069161,BC101150,BC101151,BC101152,BC101153 NP_112228,BAC15620,EAW60698,CAC27566,AAH69161,AAI01151,AAI01152,AAI01153,AAI01154,Q8IUG1 Hs.534495 GDB:11510086 KAP1.2|KAP1.3|KAP1.6|KAP1.8A|KAP1.8B|KAP1.9|KRTAP1.3|MGC119903|MGC119904|MGC119905 protein-coding 1349275 KRTAP1-4 keratin associated protein 1-4 The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM] 12228244,11279113 85298 AC007455 GDB:11510088 KAP1.4 protein-coding 1347123 KRTAP1-5 keratin associated protein 1-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,12228244,11279113 83895 NM_031957,AC007455,CH471152,AJ406928,BC069533,BC093841,BC101555 NP_114163,EAW60697,CAC27567,AAH69533,AAH93841,AAI01556,Q9BYS1 Hs.534499 GDB:11510090 KAP1.5|KRTAP1.5|MGC126604 protein-coding 1605520 KRTAP10-1 keratin associated protein 10-1 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15028290,14962103,12477932,12359730,10830953 386677 NM_198691,AP001067,CH471079,AB076347,AJ566380,BC120959,BC120960 NP_941964,EAX09420,BAD01534,CAD97461,AAI20960,AAI20961,P60331,Q0VAR0,Q0VAR1 Hs.688631 KAP10.1|KAP18-1|KAP18.1|KRTAP10.1|KRTAP18-1|KRTAP18.1 protein-coding 1345335 KRTAP10-10 keratin associated protein 10-10 1580863 15028290,14962103,10830953 353333 NM_181688,AL773602,CH471079,AB076358,AJ566387 NP_859016,EAX09410,BAD01545,CAD97467,P60014,AAI56524 Hs.474001 KAP10.10|KAP18.10|KRTAP18-10|KRTAP18.10 protein-coding 1354095 KRTAP10-11 keratin associated protein 10-11 15028290,12477932,10830953 386678 NM_198692,AL773602,CH471079,AB076359,AF086314,BC131611,BX103563 NP_941965,EAX09409,BAD01546,AAI31612,P60412 Hs.58076 KAP10.11|KAP18.11|KRTAP18-11|KRTAP18.11 protein-coding 1350396 KRTAP10-12 keratin associated protein 10-12 15028290,10830953 386685 NM_198699,AL773604,CH471079,AB076364,BC137339,BC137341 NP_941972,EAX09404,BAD01551,AAI37340,AAI37342,P60413 Hs.297526 KAP10.12|KRTAP18-12|KRTAP18.12 protein-coding 1605519 KRTAP10-2 keratin associated protein 10-2 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15028290,14962103,12359730,10830953 386679 NM_198693,AP001067,CH471079,AB076348,AB076349,AJ566381 NP_941966,EAX09419,BAD01535,BAD01536,CAD97462,P60368,Q76LM9,AAI46373,AAI46566 Hs.664660,Hs.689667 KAP10.2|KAP18-2|KAP18.2|KRTAP10.2|KRTAP18-2|KRTAP18.2 protein-coding 1605517 KRTAP10-3 keratin associated protein 10-3 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15028290,14962103,12359730,10830953 386682 NM_198696,AP001067,AB076350,AJ566383,BC133677 NP_941969,BAD01537,CAD97463,AAI33678,P60369 Hs.688630 KAP10.3|KAP18-3|KAP18.3|KRTAP10.3|KRTAP18-3|KRTAP18.3 protein-coding 1345547 KRTAP10-4 keratin associated protein 10-4 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15489334,15028290,14962103,12359730,10830953 386672 NM_198687,AL773602,CH471079,AB076351,AJ566382,BC125048,BC125049 NP_941960,EAX09416,BAD01538,AAI25049,AAI25050,P60372 Hs.567901 KAP10.4|KAP18-4|KRTAP10.4|KRTAP18-4|KRTAP18.4|MGC149545|MGC149546 protein-coding 1605518 KRTAP10-5 keratin associated protein 10-5 This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. 15489334,15028290,14962103,12477932,12359730,10830953 386680 NM_198694,AL773602,CH471079,AB076352,AJ566384,BC120949,BC120950 NP_941967,EAX09415,BAD01539,CAD97464,AAI20950,AAI20951,P60370,Q0VAR7 Hs.688629 KAP10.5|KAP18-5|KAP18.5|KRTAP10.5|KRTAP18-5|KRTAP18.1|KRTAP18.5 protein-coding 1349451 KRTAP10-6 keratin associated protein 10-6 15028290,14962103,12359730,10830953 386674 NM_198688,AL773602,CH471079,AB076353 NP_941961,EAX09414,BAD01540,P60371,AAI60131 Hs.689666 KAP10.6|KAP18.6|KRTAP18-6|KRTAP18.6 protein-coding 1605522 KRTAP10-7 keratin associated protein 10-7 15028290,14962103,12477932,12359730,10830953 386675 NM_198689,AL773602,AP001067,CH471079,AB076354,AJ566385,BC119643 NP_941962,EAX09413,BAD01541,CAD97465,AAI19644,P60409,Q0VDJ8 Hs.473999 KAP10.7|KAP18.7|KRTAP18-7 protein-coding 1342479 KRTAP10-8 keratin associated protein 10-8 15489334,15028290,12477932,10830953 386681 BC127016,NM_198695,AL773602,CH471079,AB076355 AAI27017,P60410,NP_941968,EAX09412,BAD01542 Hs.528021 KAP10.8|KRTAP18-8|KRTAP18.8 protein-coding 1605521 KRTAP10-9 keratin associated protein 10-9 15028290,14962103,10830953 386676 NM_198690,AL773602,CH471079,AB076356,AB076357,AJ566386,BC131613 NP_941963,EAX09411,BAD01543,BAD01544,CAD97466,AAI31614,P60411,Q76LM8 Hs.474000,Hs.712019 KAP10.9|KAP18.9|KRTAP18-9 protein-coding 1350814 KRTAP11-1 keratin associated protein 11-1 1580863 15385554,12359730,10830953 337880 NM_175858,AP000244,AB096963,AJ457065,BC130555,BC130557 NP_787054,BAE46378,CAD29721,AAI30556,AAI30558,Q3LI55,Q8IUC1 Hs.407654 HACL-1|HACL1|KAP11.1 protein-coding 1343627 KRTAP12-1 keratin associated protein 12-1 1580863 15489334,15028290,14962103,12477932,10830953 353332 NM_181686,AL773604,CH471079,AB076363,AJ566388,BC119713,BC120942,BC127648 NP_859014,EAX09405,BAD01550,CAD97468,AAI19714,AAI20943,AAI27649,P59990 Hs.688628 KAP12.1|KRTAP12.1 protein-coding 1352453 KRTAP12-2 keratin associated protein 12-2 1580863 15489334,15028290,14962103,12477932,10830953 353323 NM_181684,AL773602,CH471079,AB076362,AJ566389,BC120941 NP_859012,EAX09406,BAD01549,CAD97469,AAI20942,P59991 Hs.567902 KAP12.2|KRTAP12.2 protein-coding 1350615 KRTAP12-3 keratin associated protein 12-3 15028290,10830953 386683 NM_198697,AL773602,CH471079,AB076361 BAD01548,P60328,AAI60116,NP_941970,EAX09407 Hs.528023 KRTAP12.3 protein-coding 1347376 KRTAP12-4 keratin associated protein 12-4 15489334,15028290,10830953 386684 NM_198698,AL773602,CH471079,AB076360,BC125198 NP_941971,EAX09408,BAD01547,AAI25199,P60329 Hs.689664 KRTAP12.4|MGC150594 protein-coding 1343187 KRTAP13-1 keratin associated protein 13-1 Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).[supplied by OMIM] 1580863 12477932,12359730,10830953 140258 NM_181599,AP000567,AP001708,CH471079,AB096939,AJ457066,BC113536,BC113538 NP_853630,EAX09899,BAE46354,CAD29722,AAI13537,AAI13539,Q14D20,Q8IUC0 Hs.407653 KAP13.1|KRTAP13.1 protein-coding 1345812 KRTAP13-2 keratin associated protein 13-2 15489334,12477932,12359730 337959 NM_181621,AP000885,AP001708,CH471079,AB096938,BC093934,BC093936,BX104478,W72002 NP_853652,EAX09900,BAE46353,AAH93934,AAH93936,Q52LG2 Hs.58152 KAP13-2 protein-coding 1352819 KRTAP13-3 keratin associated protein 13-3 15489334,12477932,12359730 337960 NM_181622,AP000567,AP001708,AB096940,BC103965 NP_853653,BAE46355,AAI03966,Q3SY46 Hs.553687 KAP13.3|MGC119828 protein-coding 1343476 KRTAP13-4 keratin associated protein 13-4 12359730 284827 NM_181600,AP000567,AP001708,AB096941,BC131691 NP_853631,BAE46356,AAI31692,Q3LI77 Hs.553677 KAP13.4 protein-coding 1353317 KRTAP13P1 keratin associated protein 13 pseudogene 1 12359730,10830953 337964 NG_002667,AP000567,AP001708 KAP13A pseudo 1603508 KRTAP13P2 keratin associated protein 13 pseudogene 2 12359730 337965 NG_002668,AP000885 KAP13B pseudo 1322358 KRTAP15-1 keratin associated protein 15-1 15489334,12477932,12359730 254950 NM_181623,AP000567,AP001708,AB096942,BC104925,BC104927 NP_853654,BAE46357,AAI04926,AAI04928,Q2M3F4,Q3LI76 Hs.553654 KAP15.1 protein-coding 1602313 KRTAP16-1 keratin associated protein 16-1 11279113 85276 AC003958 KAP16.1 protein-coding 1343387 KRTAP17-1 keratin associated protein 17-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 83902 NM_031964,AC003958,CH471152,AJ406952,BC069078,BC069297 NP_114170,EAW60726,CAC27591,AAH69078,AAH69297,Q9BYP8,AAI46277,AAI46561 Hs.307009 GDB:11510092 KAP17.1|KRTAP16.1|KRTAP17.1 protein-coding 1344074 KRTAP19-1 keratin associated protein 19-1 1580863 12359730,10830953 337882 NM_181607,AP000567,AP001708,CH471079,AB096943,AJ457067,BC126284,BC126286 NP_853638,EAX09898,BAE46358,CAD29723,AAI26285,AAI26287,Q8IUB9,AAI46601,AAI48507 Hs.61552 KAP19.1 protein-coding 1349642 KRTAP19-2 keratin associated protein 19-2 12359730 337969 NM_181608,AP000567,AP001708,AB180041 NP_853639,BAE46380,Q3LHN2,AAI40342,AAI48696 Hs.553692 KAP19.2 protein-coding 1345436 KRTAP19-3 keratin associated protein 19-3 12359730 337970 NM_181609,AP000567,AP001708,CH471079,AB096944,AF139541,BC126280,BC126282 NP_853640,EAX09897,BAE46359,AAP97270,Q7Z4W3,AAI48586,AAI48792 Hs.60480 GTRHP|KAP19.3 protein-coding 1347700 KRTAP19-4 keratin associated protein 19-4 15489334,12477932,12359730 337971 NM_181610,AP000567,AP001708,AB096945,BC117197,BC117199 NP_853641,BAE46360,AAI17198,AAI17200,Q17RT6,Q3LI73 Hs.553693 KAP19.4 protein-coding 1344454 KRTAP19-5 keratin associated protein 19-5 17353931,12359730 337972 NM_181611,AP000567,AP001708,AB096946,BC100836,BC100837,BC100838,BC100839,BC113020,BC113021 NP_853642,BAE46361,AAI00837,AAI00838,AAI00839,AAI00840,AAI13021,AAI13022,Q3LI72 Hs.553694 KAP19.5 protein-coding 1353157 KRTAP19-6 keratin associated protein 19-6 12477932,12359730 337973 NM_181612,AP000567,AP001708,AB096947,AB096948,BC101813,BC101815 NP_853643,BAE46362,BAE46363,AAI01814,AAI01816,Q3LI70,Q3LI71,AAI56857 Hs.553695 KAP19.6 protein-coding 1346372 KRTAP19-7 keratin associated protein 19-7 15489334,12477932,12359730 337974 NM_181614,AP001069,AP001708,AB096949,BC103836,BC103837,BC103838 NP_853645,BAE46364,AAI03837,AAI03838,AAI03839,Q3SYF9 Hs.553696 KAP19.7|MGC118928 protein-coding 2291778 KRTAP19-8 keratin associated protein 19-8 728299 NM_001099219,AP000245,AB096964 NP_001092689,BAE46379,Q3LI54 Hs.580875 protein-coding 1603505 KRTAP19P1 keratin associated protein 19 pseudogene 1 12359730 337982 NG_002688,AP000567 KAP19A pseudo 1603504 KRTAP19P2 keratin associated protein 19 pseudogene 2 12359730 337983 NG_002689,AP000567 KAP19B pseudo 1603503 KRTAP19P3 keratin associated protein 19 pseudogene 3 12359730 337984 NG_002671,AP000567 KAP19C pseudo 1350262 KRTAP19P4 keratin associated protein 19 pseudogene 4 12359730,10830953 337985 NG_002672,AP001069,AP001708 KAP19D pseudo 1344432 KRTAP2-1 keratin associated protein 2-1 1580863 12477932,11279113 81872 XM_001725764,NM_001123387,AC007455,AC100808,AJ296345,BC012486 XP_001725816,NP_001116859,CAC24555,Q9BYU5 Hs.528921 GDB:11510094 KAP2.1A|KRTAP2.1A protein-coding 1352995 KRTAP2-2 keratin associated protein 2-2 85296 XM_930081,XM_001714719,XM_001127069,AC025904,AC037482,AC100808,CH471152,AJ302536 XP_935174,XP_001714771,XP_001127069,EAW60700,EAW60701,CAC27564,Q9BYT5 Hs.650131 GDB:11510096 KAP2.2 protein-coding 1351254 KRTAP2-3 keratin associated protein 2-3 16625196,11279113 85295 AC025904 P0C7H8 GDB:11510098 KAP2.3|KRTAP2.3 protein-coding 1343099 KRTAP2-4 keratin associated protein 2-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85294 NM_033184,AC100808,CH471152,AJ406930,BC063625,BC101147,BC101148,BC101149 NP_149440,EAW60702,EAW60703,CAC27569,AAH63625,AAI01148,AAI01149,AAI01150,Q9BYR9 Hs.406714,Hs.560502 GDB:11510100 KAP2.4|KRTAP2.4|MGC119882|MGC119884|MGC119885|MGC74790 protein-coding 1344445 KRTAP20-1 keratin associated protein 20-1 15489334,12477932,12359730 337975 NM_181615,AP001069,AP001708,AB096955,BC104846,BC104872 NP_853646,BAE46370,AAI04847,AAI04873,Q3LI63 Hs.553697 KAP20.1 protein-coding 1352336 KRTAP20-2 keratin associated protein 20-2 15489334,12477932,12359730 337976 NM_181616,AP001069,AP001708,AB096957,BC111084 NP_853647,BAE46372,AAI11085,Q3LI61 Hs.553698 KAP20.2|MGC133104 protein-coding 2293213 KRTAP20-3 keratin associated protein 20-3 100151753 AB096958 BAE46373,Q3LI60 Hs.580878 KAP19D|KAP20.3|KRTAP19P4 protein-coding 1346788 KRTAP21-1 keratin associated protein 21-1 15489334,12477932,12359730 337977 NM_181619,AP000243,AP001709,AB096960,BC046635,BC105029,BC105031 NP_853650,BAE46375,AAH46635,AAI05030,AAI05032,Q3LI58,Q3ZCR5 Hs.539723,Hs.567837 KAP21.1 protein-coding 1349542 KRTAP21-2 keratin associated protein 21-2 12359730 337978 NM_181617,AP000243,AP001709,AB096959 NP_853648,BAE46374,Q3LI59,AAI56535,AAI57081 Hs.553699 KAP21.2 protein-coding 1603502 KRTAP21P1 keratin associated protein 21 pseudogene 1 12359730 337986 NG_002673,AP000243 KAP21A pseudo 1352120 KRTAP22-1 keratin associated protein 22-1 15489334,12477932,12359730 337979 NM_181620,AP001069,AP001708,AB096953,BC101682,BC101686 NP_853651,BAE46368,AAI01683,AAI01687,Q3MIV0 Hs.553700 KAP22.1|MGC126731|MGC126735 protein-coding 1354302 KRTAP23-1 keratin associated protein 23-1 12359730 337963 NM_181624,AP000885,AP001708,BC128435 NP_853655,AAI28436,A1A580 Hs.553688 KAP23.1 protein-coding 2292073 KRTAP24-1 keratin associated protein 24-1 17235325,16939781 643803 NM_001085455,AP000884,AB096935,AM238513 CAJ87483,Q3LI83,NP_001078924,BAE46350 Hs.580883 KAP24.1 protein-coding 2293249 KRTAP25-1 keratin associated protein 25-1 100131902 XM_001720188,XM_001724740,XM_001725415,AP000884,AB180043 XP_001720240,XP_001724792,XP_001725467,BAE46382,Q3LHN0 Hs.580882 KAP25.1 protein-coding 1603240 KRTAP26-1 keratin associated protein 26-1 15489334,12477932 388818 NM_203405,AP000885,AB096936,AM941740,BC057825,CB996254,CR602838 NP_981950,BAE46351,CAQ03502,AAH57825,Q6PEX3 Hs.28704 MGC71787 keratin associated protein protein-coding 2292072 KRTAP27-1 keratin associated protein 27-1 643812 NM_001077711,AP000885,AB096937 NP_001071179,BAE46352,Q3LI81 Hs.580881 protein-coding 1348270 KRTAP2P1 keratin associated protein 2 pseudogene 1 11279113 85343 NG_000939,AC025904,AC037482 GDB:11510102 KAP2A pseudo 1314968 KRTAP3-1 keratin associated protein 3-1 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 83896 NM_031958,AC007455,CH471152,CS300806,AJ406931,BC113077,BC113078 NP_114164,EAW60695,EAW60696,CAK32470,CAC27570,AAI13078,AAI13079,Q9BYR8 Hs.307027 GDB:11510104 KAP3.1|KRTAP3.1 protein-coding 1346288 KRTAP3-2 keratin associated protein 3-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 16189514,15489334,12477932,11279113 83897 NM_031959,AC007455,CH471152,AJ406932,BC034582 NP_114165,EAW60694,CAC27571,AAH34582,Q9BYR7,ABM83329,ABM86541 Hs.307026 GDB:11510106 KAP3.2|KRTAP3.2 protein-coding 1316737 KRTAP3-3 keratin associated protein 3-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85293 NM_033185,AC007455,CH471152,AJ406933,BC069099,BC069448,BC093845,BC093847 NP_149441,EAW60693,CAC27572,AAH69099,AAH69448,AAH93845,AAH93847,Q6NTD4,Q9BYR6 Hs.662759 GDB:11510108 KAP3.3|KRTAP3.3|MGC95374 protein-coding 1347025 KRTAP3P1 keratin associated protein 3 pseudogene 1 11279113 85345 NG_000941,AC007455 GDB:11510110 KAP3A pseudo 1349794 KRTAP4-1 keratin associated protein 4-1 11279113 85292 AC006070 GDB:11510112 KAP4.1|KAP4.10|KRTAP4-10 protein-coding 1346875 KRTAP4-10 keratin associated protein 4-10 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85285 Q9BYQ7 NM_033060,AC006070,CH471152,AJ406942,BC065372,BC103845,BC103846 NP_149049,EAW60715,CAC27581,AAI03846,AAI03847,Q9BYQ7 Hs.437079 GDB:11510114 KAP4.10|KRTAP4.10|MGC118980|MGC118981 protein-coding 1347351 KRTAP4-11 keratin associated protein 4-11 11279113 85284 AC025904 GDB:11510116 KAP4.11|KAP4.14|KRTAP4-14 protein-coding 1343990 KRTAP4-12 keratin associated protein 4-12 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 16713569,16189514,15489334,12477932,11279113 83755 NM_031854,AC100808,CH471152,AJ406943,BC004180,BC004212,BC101159,BC101160,BC101161,BC101162 NP_114060,CAC27582,AAH04180,AAH04212,AAI01160,AAI01161,AAI01162,AAI01163,Q495H9,Q9BQ66,ABM84555,ABW03482,EAW60709 Hs.572443 GDB:11510118 KAP4.12|KRTAP4.12 protein-coding 1354306 KRTAP4-13 keratin associated protein 4-13 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 11279113 85283 AJ296168 CAC27563 Hs.307022 GDB:11510120 KAP4.13|KRTAP4.13 protein-coding 1350812 KRTAP4-14 keratin associated protein 4-14 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85282 Q9BYQ6 BC130562,NM_033059,AC037482,CH471152,AJ406944,BC126131 AAI30563,Q9BYQ6,NP_149048,EAW60708,CAC27583,AAI26132 Hs.307015 GDB:11510122 KAP4.14|KRTAP4.14 protein-coding 1346065 KRTAP4-15 keratin associated protein 4-15 1580863 11279113 81871 XM_926610,XM_937152,AC100808,AJ406945 XP_931703,XP_942245,CAC27584,Q9BYQ5 Hs.307014 GDB:11510124 KAP4.15|KRTAP4.15 protein-coding 1352495 KRTAP4-2 keratin associated protein 4-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85291 NM_033062,AC006070,CH471152,AJ406934,BC127252 NP_149051,EAW60714,CAC27573,AAI27253,Q9BYR5 Hs.380165 GDB:11510126 KAP4.2|KRTAP4.2|MGC119940 protein-coding 1344789 KRTAP4-3 keratin associated protein 4-3 1580863 11279113 85290 NM_033187,AC006070,CH471152,AJ406935 NP_149443,EAW60713,CAC27574,Q9BYR4 Hs.307023 GDB:11510128 KAP4.3 protein-coding 1347393 KRTAP4-4 keratin associated protein 4-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15955084,11279113 84616 NM_032524,AC100808,CH471152,AJ296168,AJ406936 NP_115913,EAW60712,CAC27563,CAC27575,Q9BYR3,AAI56149,AAI56987 Hs.307022 GDB:11510130 KAP4.13|KAP4.4|KRTAP4-13|KRTAP4.13|KRTAP4.4 protein-coding 1351130 KRTAP4-5 keratin associated protein 4-5 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 11279113 85289 NM_033188,AC100808,CH471152,AJ406937 NP_149445,EAW60711,CAC27576,Q9BYR2 Hs.514863 GDB:11510132 KAP4.5|KRTAP4.5 protein-coding 1353828 KRTAP4-6 keratin associated protein 4-6 1580863 85288 AJ406938,AC025904 CAC27577,Q9BYR1 Hs.307014 GDB:11510134 KAP4.15|KAP4.6|KRTAP4-15 protein-coding 1352061 KRTAP4-7 keratin associated protein 4-7 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85287 NM_033061,AC037482,CH471152,AJ406939,AK129752,BC126421,BC126423 NP_149050,EAW60704,CAC27578,AAI26422,AAI26424,Q9BYR0 Hs.380164,Hs.632746 GDB:11510136 KAP4.7|KRTAP4.7 protein-coding 1342775 KRTAP4-8 keratin associated protein 4-8 1580863 11279113 83898 XM_927495,XM_001722576,XM_001130340,XM_001721148,AC025904,AC037482,CH471152,AJ406940,XM_001130332,XM_001721146 XP_932588,XP_001722628,XP_001721200,EAW60705,CAC27579,Q9BYQ9,XP_001130340,XP_001130332,XP_001721198 Hs.307019 GDB:11510138 KAP4.8|KRTAP4.8 protein-coding 1347406 KRTAP4-9 keratin associated protein 4-9 1580863 11279113 85286 XM_001715848,XM_001716829,AC025904,AC037482,AJ406941 XP_001715900,XP_001716881,CAC27580,Q9BYQ8 Hs.307018 GDB:11510140 KAP4.9 protein-coding 1346080 KRTAP4P1 keratin associated protein 4 pseudogene 1 11279113 85354 NG_005311,AC025904,AC100808 GDB:11510142 KAP4A pseudo 1352638 KRTAP5-1 keratin associated protein 5-1 16442267,15144888,12234709 387264 NM_001005922,AP006285,AB126070 NP_001005922,BAD20197,Q6L8H4,AAI48863 Hs.632147 KRN1L|KRTAP5.1 protein-coding 1351402 KRTAP5-10 keratin associated protein 5-10 15144888 387273 NM_001012710,AP000867,AB126079 NP_001012728,BAD20206,Q6L8G5 Hs.661887 KRTAP5.10 protein-coding 1605177 KRTAP5-11 keratin associated protein 5-11 15144888 440051 NM_001005405,AP000867,AB126080,AJ628244,BC130498,BC130502 NP_001005405,BAD20207,Q6L8G4,AAI48464 Hs.679617 KRTAP5-5|KRTAP5-6|KRTAP5.11 protein-coding 1351556 KRTAP5-2 keratin associated protein 5-2 15144888,12477932 440021 NM_001004325,AP006285,AB126071,AJ628245,BC132882,BC132908 NP_001004325,BAD20198,CAF31637,AAI32883,AAI32909,Q701N4,AAI46602,AAI56417 Hs.673618 KRTAP5-8|KRTAP5.2 protein-coding 1342991 KRTAP5-3 keratin associated protein 5-3 15144888 387266 NM_001012708,AP006285,AB126072,AJ628246,AY597812 NP_001012726,BAD20199,CAF31638,AAT09005,Q6L8H2,AAI48333,AAI48734 Hs.532471 KRTAP5-9|KRTAP5.3 protein-coding 1347838 KRTAP5-4 keratin associated protein 5-4 15144888 387267 NM_001012709,AC130310,AP006285,AB126073 NP_001012727,BAD20200,Q6L8H1,AAI46562,AAI48330 Hs.539087 KRTAP5.4 protein-coding 1605485 KRTAP5-5 keratin associated protein 5-5 15144888 439915 NM_001001480,AP006285,AB126074,AJ628247 NP_001001480,BAD20201,CAF31639,Q701N2 Hs.653467,Hs.673618 KRTAP5-11|KRTAP5.5 protein-coding 1605180 KRTAP5-6 keratin associated protein 5-6 15144888,12477932 440023 NM_001012416,AC068580,AB126075,BC130399,BC133035 NP_001012416,BAD20202,AAI30400,AAI33036,Q6L8G9 Hs.534863 KRTAP5.6 protein-coding 1605178 KRTAP5-7 keratin associated protein 5-7 15144888 440050 NM_001012503,AP000867,AB126076,AJ628243,BC136967,BC136968 NP_001012521,BAD20203,CAF31636,AAI36968,AAI36969,Q6L8G8,AAI48791 Hs.710675 KRTAP5-3|KRTAP5.7 protein-coding 1605356 KRTAP5-8 keratin associated protein 5-8 10023043,15144888 57830 NM_021046,AJ006692,AP000867,AB126077,AY360461,BX099510 NP_066384,CAA07188,BAD20204,AAQ62965,O75690,AAI60147 Hs.445245 KRTAP5-2|KRTAP5.8|UHSKerB protein-coding 1603711 KRTAP5-9 keratin associated protein 5-9 1703541,16344560,15489334,15144888,12477932,10023043,1724400 3846 NM_005553,AJ006693,AP000867,X55293,AB126078,BC069531,BC101744,DB339866,X63755 NP_005544,CAA07189,CAA39005,BAD20205,AAH69531,AAI01745,CAA45283,P26371,Q3MIP8 Hs.445245 KRN1|KRTAP5-1|KRTAP5.9|MGC126793 protein-coding 1353361 KRTAP5P1 keratin associated protein 5 pseudogene 1 387275 1345328 KRTAP5P2 keratin associated protein 5 pseudogene 2 387276 1344528 KRTAP6-1 keratin associated protein 6-1 16780588,12477932,12359730 337966 NM_181602,AP001069,AP001708,AB096954,BC104426,BC104427 NP_853633,BAE46369,Q3LI64,AAI48583,AAI53092 Hs.194301,Hs.553689 C21orf103|KAP6.1 protein-coding 1353226 KRTAP6-2 keratin associated protein 6-2 12359730 337967 NM_181604,AP001069,AP001708,AB096952 NP_853635,BAE46367,Q3LI66,AAI41489,AAI48772 Hs.553690 KAP6.2 protein-coding 1352489 KRTAP6-3 keratin associated protein 6-3 12477932,12359730 337968 NM_181605,AP001069,AP001708,AB096951,BC101121,BC101122,BC118547,BC118624 NP_853636,BAE46366,AAI01122,AAI01123,AAI18548,AAI18625,Q3LI67 Hs.553691 KAP6.3 protein-coding 1352307 KRTAP7-1 keratin associated protein 7-1 1580863 12359730,10830953 337878 XM_927228,XM_941037,XM_001724754,AP000244,AP001709,AB096962,AJ457063 XP_932321,XP_946130,XP_001724806,BAE46377,CAD29719,Q3LI56,Q8IUC3 Hs.407656 KAP7.1 protein-coding 1354331 KRTAP8-1 keratin associated protein 8-1 1580863 12477932,12359730,10830953 337879 NM_175857,AP000244,CH471079,AB096961,BC130397,AJ457064,BC133033 NP_787053,EAX09896,CAD29720,BAE46376,AAI30398,AAI33034,Q3LI57,Q8IUC2 Hs.407655 KAP8.1 protein-coding 1603507 KRTAP8P1 keratin associated protein 8 pseudogene 1 12359730 337980 NG_002669,AP000244 KAP8A pseudo 1603506 KRTAP8P2 keratin associated protein 8 pseudogene 2 12359730 337981 NG_002670,AP000244 KAP8B pseudo 1347378 KRTAP9-1 keratin associated protein 9-1 11279113 85281 AC006070 KAP9.1 protein-coding 1350529 KRTAP9-2 keratin associated protein 9-2 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 17353931,12477932,11279113 83899 NM_031961,AC006070,CH471152,AJ406946,BC069560,BC110619,BC117287 NP_114167,EAW60718,CAC27585,AAH69560,AAI10620,AAI17288,Q17RK8,Q6ISF6,Q9BYQ4 Hs.307013 GDB:11510144 KAP9.2|KRTAP9.2|MGC130013 protein-coding 1347666 KRTAP9-3 keratin associated protein 9-3 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 17353931,15489334,12477932,11279113 83900 NM_031962,AC006070,CH471152,AJ406947,BC074918,BC074919 NP_114168,EAW60719,CAC27586,AAH74918,AAH74919,Q9BYQ3 Hs.307012 GDB:11510146 KAP9.3|KRTAP9.3 protein-coding 1346768 KRTAP9-4 keratin associated protein 9-4 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 85280 NM_033191,AC006070,CH471152,AJ406948,BC121094 NP_149461,EAW60721,CAC27587,AAI21095,Q9BYQ2 Hs.528700 GDB:11510148 KAP9.4|KRTAP9.4 protein-coding 1353120 KRTAP9-5 keratin associated protein 9-5 1580863 11279113 85279 Q9BYQ1 XM_926671,XM_937223,AC006070,AJ406949 XP_931764,XP_942316,CAC27588,Q9BYQ1 Hs.307010 GDB:11510150 KAP9.5 protein-coding 1352438 KRTAP9-6 keratin associated protein 9-6 11279113 85278 AC006070 GDB:11510152 KAP9.6 protein-coding 1349870 KRTAP9-7 keratin associated protein 9-7 11279113 85277 AC006070 GDB:11510154 KAP9.7 protein-coding 1348121 KRTAP9-8 keratin associated protein 9-8 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 15489334,12477932,11279113 83901 NM_031963,AC006070,AJ406950,BC074981,BC074982 NP_114169,CAC27589,AAH74981,AAH74982,Q9BYQ0 Hs.307011 GDB:11510156 KAP9.8|KRTAP9.8 protein-coding 1343161 KRTAP9-9 keratin associated protein 9-9 This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. 1580863 11279113 81870 NM_030975,AC006070,AJ406949,AJ406951 NP_112237,CAC27588,CAC27590,Q9BYP9 Hs.307010 GDB:11510158 KAP9.5|KAP9.9|KRTAP9-5|KRTAP9.9 protein-coding 1353696 KRTAP9P1 keratin associated protein 9 pseudogene 1 11279113 85347 NG_000942,AC006070 GDB:11510160 KAP9A pseudo 1318165 KRTCAP2 keratinocyte associated protein 2 737633,1580863 16710414,15835887,15489334,14702039,12752121,12477932 737633 200185 NM_173852,AL607067,AK024167,AY157577,BC029806,BC048205,BC057233,BX647396 NP_776251,CAH71196,AAO13161,AAH29806,AAH48205,AAH57233,Q8N6L1,ABM81719,ABM84874 Hs.516671,Hs.704676 KCP2 protein-coding 1342898 KRTCAP3 keratinocyte associated protein 3 15815621,15489334,12975309,12752121,12477932 200634 NM_173853,AC074117,CH471053,AY157576,AY358993,BC101687,BC101689 NP_776252,AAY14848,EAX00576,EAX00577,AAO13160,AAQ89352,AAI01688,AAI01690,Q53RY4 Hs.59509 KCP3|MGC126736|MGC126738|MRV222|PRO9898 protein-coding 1603836 KRTDAP keratinocyte differentiation-associated protein 16381901,15489336,15140226,12975309,12477932,11076863,11054531,7566098 388533 NM_207392,AD001502,AY359007,BC130501 NP_997275,AAQ89366,AAI30502,P60985,Q0JT10,CAL37452,CAL37545,CAL37550,CAL37616,CAL37725,CAL37729,CAL38275,CAL38354 Hs.112457 GDB:11500550 KDAP|MGC163373|UNQ467 protein-coding 1345306 KRTDAP keratinocyte differentiation-associated protein 70785 15140226,11054531,7566098 70785 148131 AA297512,AA583942 Hs.112457 GDB:11500550 KDAP protein-coding 1317686 KSR1 kinase suppressor of ras 1 14724641,8521512,17081983,16732322,16625196,15899786,15520853,15489334,12477932,12007434,10764733 8844 NM_014238,AC015688,AC069366,CH471159,AK130719,BC035488,BC037586,BC042106,BI829205,BX396814,U43586 NP_055053,EAW51034,EAW51035,BAC85413,AAH42106,AAC50354,Q6ZNT2,Q8IVT5 Hs.133534 GDB:9957387 KSR|RSU2 protein-coding 1351357 KSR2 kinase suppressor of ras 2 17599832,16039990,15489334,14702039,12975377,12477932,12471243 283455 NM_173598,AC073864,AC079127,AC092936,AC127166,CH471054,CQ893713,AK098831,AY345972,BC107106,BC107107,BC127603,BX648958,DW009880,DW009881 NP_775869,EAW98111,EAW98112,CAH68720,BAC05426,AAQ24226,AAI07107,AAI07108,AAI27604,Q6VAB6 Hs.375836,Hs.631268 FLJ25965 protein-coding 1352277 KSS Kearns-Sayre syndrome 3894 GDB:9957718 1604326 KTELC1 KTEL (Lys-Tyr-Glu-Leu) containing 1 15489334,12975309,12477932,9373149,8125298,16524674,16303743 56983 NM_020231,AC073352,AC074271,CH471052,CS051265,AF168711,AK027012,AK075444,AK126736,AK222937,AY298903,AY358581,BC030614,NM_152305,BC048810,CR622651 NP_689518,NP_064616,EAW79570,CAI72128,AAF87313,BAC11625,BAC86663,BAD96657,AAP56253,AAQ88944,AAH30614,AAH48810,Q6ZTC9,Q8NBL1,Q9NRV2 Hs.231750 C3orf9|CLP46|KDELCL1|MDS010|MDSRP|MGC32995|hCLP46 protein-coding 1603926 KTI12 KTI12 homolog, chromatin associated (S. cerevisiae) 12477932,11929532 112970 NM_138417,AL445685,CH471059,AF327348,BC012173,BI909162,CR599183,CR604251,CR609009 NP_612426,CAI17029,EAX06801,AAL56009,AAH12173,Q96EK9,ABM83165,ABM86365 Hs.655082 MGC20419|RP11-91A18.3|SBBI81|TOT4 protein-coding 1343201 KTN1 kinectin 1 (kinesin receptor) Various cellular organelles and vesicles are transported along the microtubules in the cytoplasm. Likewise, membrane recycling of the endoplasmic reticulum (ER), Golgi assembly at the microtubule organizing center, and alignment of lysosomes along microtubules are all related processes. The transport of organelles requires a special class of microtubule-associated proteins (MAPs). One of these is the molecular motor kinesin (see MIM 148760 and MIM 600025), an ATPase that moves vesicles unidirectionally toward the plus end of the microtubule. Another such MAP is kinectin, a large integral ER membrane protein. Antibodies directed against kinectin have been shown to inhibit its binding to kinesin.[supplied by OMIM] 7787243,17081983,17013387,16950774,16890462,16344560,15489334,14743216,14702039,12773547,12508121,12477932,11973345,11689693,11329013,10913441,10850414,10692099,9605849,9535835,8769096,8575822,8039706,7787244,7584028,7584026,12773565 3895 NM_182926,NM_001079522,NM_001079521,BC104648,BC112337,BC117132,BG206718,BQ014936,BX537523,BX537639,D13629,DA452468,DA769269,L25616,Z22551,NM_004986,AL138499,CH471061,AK055870,AK124180,AK125499,AY264265,AY536375,BC050555,BC058736,BC066337 NP_891556,NP_001072990,AAH66337,AAI04649,AAI12338,AAI17133,BAA02794,AAB65853,CAA80271,Q17RZ5,Q3SWV9,Q5GGW3,Q6NZ46,Q6PDF7,Q86UP2,NP_004977,EAW80681,EAW80682,EAW80683,EAW80684,EAW80685,AAP20418,AAT66048,AAH50555,AAH58736,NP_001072989 Hs.509414 GDB:6165852 CG1|KIAA0004|KNT|MGC133337|MU-RMS-40.19 protein-coding 1350027 KWE keratolytic winter erythema (Oudtshoorn skin disease) 9311742 3896 GDB:9315120 1313421 KY kyphoscoliosis peptidase 16344560,15385448,14702039,12477932 339855 NM_178554,AC016931,AC109912,CH471052,AF086360,AK090526,AK126993,BC024014,BC037842,DA212239,DA238247 NP_848649,EAW79131,EAW79132,EAW79133,BAC03471,BAC86780,Q8NBH2 Hs.146730 FLJ33207 protein-coding 734173 KYNU kynureninase (L-kynurenine hydrolase) Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Two transcript variants encoding different isoforms have been found for this gene. 70787,1580863,2290313,2290312 9180257,16080802,12477932,9373149,8706755,8125298 70787,2290313,2290312 8942 NM_001032998,AC013437,AC013444,CH471058,AK223426,AK290900,AK292095,AL548658,AW296221,BC000879,CR457423,CR592463,CR609484,CR615056,U57721,NM_003937 NP_001028170,AAX93159,AAY14727,EAX11599,EAX11600,EAX11601,BAD97146,BAF83589,BAF84784,AAH00879,CAG33704,AAC50650,Q16719,Q53F63,Q53SX6,Q53SY0,Q6I9T2,Q9BVW3,NP_003928 Hs.470126 GDB:9957925 protein-coding 1352608 L1CAM L1 cell adhesion molecule The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. 1580863 7920659,1769655,18386459,18090124,18059459,17952127,17873897,17699774,17420921,17328266,17294222,17211730,17081983,16816908,16650578,16650080,16506207,16401420,16400320,16335952,16229685,16020776,16000162,15820228,15790807,15772651,15716380,15609076,15489334,15368500,15148591,15146195,15128735,14718570,14657231,12957823,12942088,12777533,12725590,12524354,12490317,12477932,12435569,12139915,12070130,11897831,11857550,11770884,11438988,11425011,11393533,11222639,10934197,10871287,10805190,10797421,10611478,10495434,9832558,9832035,9744477,9570805,9521424,9479034,9300653,9286695,9268105,9195224,9118141,8956051,8947027,8929944,8898967,8663493,8592152,8556302,8509458,8401576,7920660,7881431,7762552,7595520,7562969,7513709,3136168,2387585,1993895,1932117,1923824,1870106,1627459,1303258,9837910,15647482 3897 AB101938,AB101939,AB101940,AB101951,AB101952,AB101953,AB101954,AB101955,AB101956,AB101957,AB101958,AB101959,AB101960,AB102022,AB102021,AB102023,AB102024,AB102025,AB102026,AB102027,AB102028,AB102029,AB102030,AB102041,AB102042,AB102043,AB102044,AB102045,AB102046,AB102047,AB102048,AB102049,AB102050,AB102051,NM_000425,AB101921,AB101922,AB101923,AB101924,AB101925,AB101926,AB101927,AB101928,AB101929,AB101930,AB101931,AB101932,AB101933,AB101934,AB101935,AB101936,AB101937,NM_024003,AB101996,AB101997,AB101998,AB101999,AB102000,AB102011,AB102012,AB102013,AB102014,AB102015,AB102016,AB102017,AB102018,AB102019,AB102020,AB101961,AB101962,AB101963,AB101964,AB101965,AB101966,AB101967,AB101968,AB101969,AB101970,AB101981,AB101982,AB101983,AB101984,AB101985,AB101986,AB101987,AB101988,AB101989,AB101990,AB101991,AB101992,AB101993,AB101994,AB101995,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,DQ173614,DQ173615,DQ173616,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,X58775,X67912,Z29373,AB102653,AK289754,AY927629,BC025843,BC126229,BC136447,CR603016,EF506611,M55271,M74387,M77640,X58776,X59847,AB102117,AB102118,AB102119,AB102120,AY167680,AY167681,AY167682,AY167683,AY167684,AY167685,AY167686,AY167687,AY167688,AY167689,AY167690,AY167691,AY167692,AY167693,AY167694,AY167695,AY167696,AY167697,AY167698,AY167699,AY167700,AY167701,AY167702,AY167703,AY167704,AB102116,AY167705,AY167706,AY167707,AY167708,AY167709,AY167710,AY167711,AY167712,AY167713,AY167714,AY167715,AY167716,AY167717,AB102052,AB102053,AB102054,AB102055,AB102056,AB102057,AB102058,AB102059,AB102060,AB102071,AB102072,AB102073,AB102074,AB102075,AB102076,AB102077,AB102078,AB102079,AB102080,AB102081,AB102082,AB102083,AB102084,AB102085,AB102086,AB102087,AB102088,AB102089,AB102090,AB102101,AB102102,AB102103,AB102104,AB102105,AB102106,AB102107,AB102108,AB102109,AB102110,AB102111,AB102112,AB102113,AB102114,AB102115,AY167719,AY167718,AY167720,AY167721,AY167722,AY167723,AY167724,AY167725,AY167726,CH471172,DQ173589,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173597,DQ173598,DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607 BAC80496,BAC80497,BAC80498,BAC80499,BAC80510,BAC80511,BAC80512,BAC80513,BAC80514,BAC80515,BAC80516,BAC80517,BAC80518,BAC80519,BAC80581,BAC80580,BAC80582,BAC80583,BAC80584,BAC80585,BAC80586,BAC80587,BAC80588,BAC80589,BAC80600,BAC80601,BAC80602,BAC80603,BAC80604,BAC80605,BAC80606,BAC80607,BAC80608,BAC80609,NP_076493,NP_000416,BAC80480,BAC80481,BAC80482,BAC80483,BAC80484,BAC80485,BAC80486,BAC80487,BAC80488,BAC80489,BAC80490,BAC80491,BAC80492,BAC80493,BAC80494,BAC80495,BAC80555,BAC80556,BAC80557,BAC80558,BAC80559,BAC80570,BAC80571,BAC80572,BAC80573,BAC80574,BAC80575,BAC80576,BAC80577,BAC80578,BAC80579,BAC80521,BAC80522,BAC80523,BAC80524,BAC80525,BAC80526,BAC80527,BAC80528,BAC80529,BAC80540,BAC80541,BAC80542,BAC80543,BAC80544,BAC80545,BAC80546,BAC80547,BAC80548,BAC80549,BAC80550,BAC80551,BAC80552,BAC80553,BAC80554,BAC80520,ABC25809,ABC25814,ABC25819,ABC25824,ABC25829,ABC25834,ABC25839,ABC25844,ABC25849,ABC25854,ABC25859,ABC25864,ABC25869,ABC25874,ABC25879,ABC25884,ABC25889,ABC25894,ABC25899,ABC25904,ABC25909,ABC25914,ABC25919,ABC25924,ABC25929,ABC25934,ABC25939,ABC25944,ABC25949,ABC25954,ABC25959,ABC25964,ABC25969,ABC25974,ABC25979,CAA41576,CAA82564,BAC81122,BAF82443,AAH25843,AAI26230,AAI36448,ABP88252,AAA36353,AAA59476,AAC14352,CAB37831,CAA42508,P32004,Q7Z2F9,Q7Z2H2,Q7Z2I3,Q7Z2J0,Q7Z2J6,Q7Z2J8,Q7Z2J9,Q7Z3Z9,Q86SE4,BAC80675,BAC80676,BAC80677,BAC80678,BAC80679,AAO17583,AAO17584,AAO17585,AAO17586,AAO17587,AAO17588,AAO17589,AAO17590,AAO17591,AAO17592,AAO17593,AAO17594,AAO17595,AAO17596,AAO17597,AAO17598,AAO17599,AAO17600,AAO17601,AAO17602,AAO17603,AAO17604,AAO17605,AAO17606,AAO17608,AAO17609,AAO17610,AAO17611,AAO17612,AAO17613,AAO17614,AAO17615,AAO17616,AAO17617,AAO17618,AAO17619,AAO17607,BAC80611,BAC80612,BAC80613,BAC80614,BAC80615,BAC80616,BAC80617,BAC80618,BAC80619,BAC80630,BAC80631,BAC80632,BAC80633,BAC80634,BAC80635,BAC80636,BAC80637,BAC80638,BAC80639,BAC80640,BAC80610,BAC80641,BAC80642,BAC80643,BAC80644,BAC80645,BAC80646,BAC80647,BAC80648,BAC80649,BAC80660,BAC80661,BAC80662,BAC80663,BAC80664,BAC80665,BAC80666,BAC80667,BAC80668,BAC80669,BAC80670,BAC80671,BAC80672,BAC80673,BAC80674,AAO17620,AAO17621,AAO17622,AAO17623,AAO17624,AAO17625,AAO17626,AAO17627,AAO17628,AAO17629,EAW72787,EAW72788,EAW72789,ABB58724,ABC25730,ABC25735,ABC25740,ABC25745,ABC25750,ABC25755,ABC25759,ABC25764,ABC25769,ABC25774,ABC25779,ABC25784,ABC25789,ABC25794,ABC25799,ABC25804 Hs.522818 GDB:120133 CAML1|CD171|HSAS|HSAS1|MASA|MIC5|N-CAML1|S10|SPG1 protein-coding 1603640 L1TD1 LINE-1 type transposase domain containing 1 15146197,14702039,12477932,8889548 54596 NM_019079,AL162739,CH471059,AB211065,AK001746,AK001973,AL834314,BC012555,BC060808,BC111559,BQ429140,BU677875,BX382228,CN428323,DR005055 NP_061952,CAI19299,EAX06590,BAD95492,BAA91878,BAA92011,CAD38984,AAI11560,Q5T7N2 Hs.685462 ECAT11|FLJ10884|MGC133253|RP5-1155K23.3 protein-coding 1314761 L2HGDH L-2-hydroxyglutarate dehydrogenase This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. 16005139,18362286,17876720,16134148,15548604,15489334,15385440,14702039,12477932,8241290,6787330 79944 NM_024884,AL109758,AL359397,CH471078,AK022680,AK292627,AY757363,BC006117,CA424871 NP_079160,EAW65725,BAB14174,BAF85316,AAV52330,AAH06117,Q9H9P8 Hs.256034 C14orf160|DURANIN|FLJ12618 protein-coding 1344736 L3MBTL l(3)mbt-like (Drosophila) This gene encodes the homolog of a protein identified in Drosophila as a suppressor of malignant transformation of neuroblasts and ganglion-mother cells in the optic centers of the brain. This gene product is localized to condensed chromosomes in mitotic cells. Overexpression of this gene in a glioma cell line results in improper nuclear segregation and cytokinesis producing multinucleated cells. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 17540172,18042461,18026117,15489334,15334543,15123827,12842041,12588862,12477932,11780052,11549316,10737800,10445843,9734811 26013 NM_032107,NM_015478,AL031681,CH471077,Z98752,AB014581,AK123176,AL110279,BC034398,BC039820,BI040370,CR622260,R42592 NP_115479,NP_056293,CAI23042,CAI23043,EAW75957,EAW75958,EAW75959,EAW75960,EAW75961,EAW75962,CAC16800,CAC18508,CAI42311,CAI42317,CAI42318,BAA31656,BAC85548,CAB53714,AAH39820,Q5H8Y9,Q6ZWF5,Q9Y468,ABZ92019 Hs.709356 GDB:11506185 DKFZp586P1522|FLJ41181|H-L(3)MBT|KIAA0681|L3MBTL1|dJ138B7.3 protein-coding 1318418 L3MBTL2 l(3)mbt-like 2 (Drosophila) 1580863 16381901,16189514,15489336,15489334,15461802,14702039,12477932,12004135,11682070,11230166,11076863,10591208 83746 BU184979,CR456482,NM_031488,AL035658,AL035681,CH471095,AJ305226,AJ305227,AK056443,AK057177,AK074091,AK097052,AL136564,BC017191 AAH17191,CAG30368,Q0JSJ7,Q0JUX5,Q969R5,CAL37685,CAL38517,CAK54463,CAK54762,ABM83238,ABM86438,NP_113676,CAI22654,EAW60410,EAW60411,EAW60412,EAW60413,EAW60414,EAW60415,EAW60416,CAC37794,CAC37795,BAB84917,BAC04936,CAB66499 Hs.517641 GDB:11506187 H-l(3)mbt-l|L3MBT protein-coding 1313522 L3MBTL3 l(3)mbt-like 3 (Drosophila) 17081983,15889154,15489334,14702039,14574404,12477932,11347906 84456 NM_001007102,AL355581,AL356579,AL583846,CH471051,AB058701,AK092756,AK094137,AK290219,BC060845,CF529850,NM_032438 NP_115814,NP_001007103,CAI95325,EAW48073,EAW48074,BAB47427,BAF82908,AAH60845,Q4VXE1,Q96JM7,ABZ92070 Hs.658051 MBT-1|MBT1|RP11-73O6.1 protein-coding 1353313 L3MBTL4 l(3)mbt-like 4 (Drosophila) 737633,1580863 2444974,14702039,12477932,8889548 737633 91133 NM_173464,AP000874,AP001021,AP005060,AP005228,CH471113,AK026733,AK091075,AK093255,BC039316,CA313345,DB455331 NP_775735,EAX01639,EAX01640,BAC04111,AAH39316,Q15150,Q8NA19 Hs.128279 HsT1031 protein-coding 1349497 LACE1 lactation elevated 1 This gene encodes a protein with possible ATPase function. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. 18237552,12477932,12079282 246269 NM_145315,AL139106,AL162721,AL353706,AL356121,CH471051,Z98742,AF520418,AL832793,BC018445 NP_660358,CAI95701,EAW48375,EAW48376,EAW48377,CAI95645,AAM74228,AAH18445,Q8WV93 Hs.259666 GDB:11508855 AFG1 protein-coding 1344511 LACRT lacritin The protein encoded by this gene is highly expressed in the lacrimal glands and localized primarily to secretory granules and secretory fluid. It augments lacrimal acinar cell secretion, promotes ductal cell proliferation, and stimulates signaling through tyrosine phosphorylation and release of calcium. 16982797,16923831,16865190,16740002,16488965,15952718,15851553,15489334,14574570,12613904,12477932,11419941 90070 NM_033277,AC079310,AY005150,CH471054,CS072263,AF238867,BC062217,BC069317 NP_150593,AAG32949,EAW96793,CAI93401,AAG44392,AAH62217,AAH69317,Q9GZZ8 Hs.307096 GDB:11506189 MGC71934 protein-coding 1312433 LACTB lactamase, beta This gene encodes a protein from the large 39S subunit of the mitochondrial ribosome (mitoribosome). The encoded protein has some sequence similarity to prokaryotic beta-lactamases but most of the residues that are responsible for the beta-lactamase activity are not conserved between the two proteins. 1580863 17517902,17081983,15489334,14702039,12975309,12477932,12164938,11707067,11551941 114294 NM_032857,NM_171846,AC087612,CH471082,AK027808,AY358709,BC037198,BC067288,BG250900,BU624474,CR591560,CR602675,CR617302,CR618824 NP_116246,NP_741982,EAW77637,EAW77638,BAB55384,AAQ89072,AAH67288,P83111,Q5XKF0 Hs.410388 GDB:11506191 FLJ14902|G24|MRPL56 protein-coding 1317324 LACTB2 lactamase, beta 2 12477932,10810093,9373149 51110 NM_016027,AC022731,CH471068,AF151841,AK222699,AK290201,BC000878,BC008505,CR623519 NP_057111,EAW86969,EAW86970,AAD34078,BAD96419,BAF82890,AAH00878,Q53H82 Hs.118554 CGI-83 protein-coding 1321680 LAD1 ladinin 1 The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. 1580863 9119369,16083285,12477932,9804354,9665393,8983017,8618014,8618013,15778465 3898 NM_005558,AC119427,CH471067,U58994,BC009742,BC071890,BX647307,U42408 NP_005549,EAW91363,EAW91364,AAD10849,AAH09742,AAH71890,CAH56166,AAB58817,O00515,Q63HQ8,Q6IPJ9,Q96GD8,ABM84582,ABM86734 Hs.519035 GDB:9835020 LadA|MGC10355 protein-coding 1344873 LAG3 lymphocyte-activation gene 3 Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. 1580863 9159144,1692078,17020785,16757686,16519819,15674389,14644131,12825348,12775570,12477932,11937541,11592063,10545478,9780176,9634475,9382927,8097522,1380059 3902 NM_002286,AC125494,CH471116,X51984,Y10211,Y13537,Y13586,AA687676,AI274900,AK292104,BC037962,BC052589,X51985,A21353 NP_002277,EAW88740,EAW88741,CAA36242,CAA73914,BAF84793,AAH52589,CAA36243,P18627,Q7Z643,CAA01547 Hs.409523 GDB:127449 CD223 protein-coding 1602901 LAGE3 L antigen family, member 3 This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. 17353931,15772651,15489334,12477932,12384295,8786131,8733135 8270 NM_006014,BX936365,CH471172,BC015744,BC019012,BC062330,X92896 NP_006005,CAI43195,EAW72701,AAH15744,AAH62330,CAA63489,Q14657 Hs.444619 CVG5|DXS9879E|DXS9951E|ESO3|ITBA2 protein-coding 1344054 LAIR1 leukocyte-associated immunoglobulin-like receptor 1 The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including NK cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. 10404045,10229813,9692876,9285412,16189514,11435477,16754721,18209062,17764536,17330824,16380958,15950745,15939744,15489334,15065762,14702039,14604962,14565933,12757266,12477932,12072189,11160222,11069054,10764762,10540327,10453657 3903 NM_021706,NM_002287,AC008746,CH471135,CU207370,CU467018,AF013249,AF109683,AF251509,AF251510,AK093559,AK097869,AK290415,BC027899,CR542051,CR592817,CR602665,CR610686 NP_068352,ABM86192,NP_002278,EAW72233,EAW72234,EAW72235,EAW72236,EAW72237,EAW72238,CAQ07343,CAQ07344,CAQ07345,CAP58446,CAP58447,CAP58448,CAP58449,AAB69324,AAF17107,AAF71274,AAF71275,BAF83104,AAH27899,CAG46848,Q6GTX8,ABM82998 Hs.572535 GDB:6407108 CD305|LAIR-1 leukocyte-associated ig-like receptor 1 protein-coding 1344794 LAIR2 leukocyte-associated immunoglobulin-like receptor 2 The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to LAIR1, an inhibitory receptor present on mononuclear leukocytes. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily, including LAIR1. The function of this protein is unknown, although it is thought to be secreted and may help modulate mucosal tolerance. Two transcript variants encoding different isoforms have been found for this gene. 18209062,17567994,15489334,12477932,11435477,10941842,10229813,9285412,8889549 3904 NM_002288,NM_021270,AC008746,CH471135,CU467002,AA133246,AF013250,BC057790,BC069366,BX106365,DQ656002 NP_067154,EAW72253,EAW72254,CAQ08961,CAQ08962,AAB69325,AAH69366,Q6ISS4,NP_002279 Hs.43803 GDB:6407109 CD306|MGC71634 protein-coding 1353473 LAKLG lymphokine-activated killer cell ligand 3905 737361 LALBA lactalbumin, alpha- This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T1) forms the catalytic component. Together, these proteins enable LS to produce lactose by transfering galactose moieties to glucose. As a monomer, alpha-lactalbumin strongly binds calcium and zinc ions and may possess bactericidal or antitumor activity. A folding variant of alpha-lactalbumin, called HAMLET, likely induces apoptosis in tumor and immature cells. 1580863 7644538,7708733,16851644,16121399,15956205,15558602,15141307,15134431,15075403,14627740,14627739,12888554,12860137,12833543,12594043,12477932,11947697,11718563,11518539,10818224,10366425,10080897,10037730,9925761,9537992,9365923,9346914,9136116,6285305,5049057,3479943,2954544,2002399 3906 NM_002289,AB049976,AC089987,CH471111,X05153,BC069103,BC112316,BC112318,BX281629,CR541987,CR542017,J00270 NP_002280,BAC06860,EAW57990,CAA28799,CAA28800,AAH69103,AAI12317,AAI12319,CAG46784,CAG46814,AAA60345,P00709,Q6FGX0 Hs.72938 GDB:120134 MGC138521|MGC138523 protein-coding 1316264 LAMA1 laminin, alpha 1 1580863 14557481,18162078,17618648,17307732,16709410,15885076,14702039,12615822,12524166,12477932,12393739,12180907,12149247,12111806,11827968,11798066,11311202,10964500,10934193,10837144,10620696,10470109,9688542,9647658,9334356,9169408,9136074,9006922,8999915,8995276,8463343,8360181,7925941,7698745,3488995,2733383,2591971,2373692,2049067,1714537,9597096 284217 NM_005559,AP002409,AP005062,AP005210,CH471113,AF351616,AK091949,AK093376,BC016997,BC032758,BC039051,BC041471,BC062318,BC107693,X58531 NP_005550,EAX01628,EAX01629,EAX01630,EAX01631,AAN76516,AAH39051,AAH62318,CAA41418,P25391,Q6P6D3,Q7Z5W6,Q8IXG5 Hs.270364,Hs.680444 GDB:120135 LAMA protein-coding 1318918 LAMA2 laminin, alpha 2 (merosin, congenital muscular dystrophy) Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. 1600200,1600206,1600207,1580863 2185464,7550355,17426950,16709410,16504180,16344560,16335952,16226104,16216942,16212419,16084089,15452315,15146197,12609502,12601554,12552556,12467726,12100448,11938437,11591858,11584042,11311202,11071490,11054877,10616210,10225960,9271224,9158149,9131649,8910357,8889548,8294519,7925941,7535762,9597096,15210115,8939648 1600200,1600206,1600207 3908 NM_000426,NM_001079823,AL356124,AL445439,AL513527,AL583853,AL589927,AL590613,AL669984,CH471051,U66796,AB208922,AK026829,AL041786,BM984634,CA421469,CN414799,CR610868,DA864571,DB106101,M59832,Z26653 NP_000417,NP_001073291,CAI22470,CAI15185,CAH70492,CAH70771,CAI16682,EAW48080,EAW48081,EAW48082,AAB18388,BAD92159,AAA63215,CAA81394,P24043,Q59H37,Q5VUM2 Hs.200841 GDB:132362 LAMM protein-coding 1345784 LAMA3 laminin, alpha 3 Laminins are basement membrane components thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. The protein encoded by this gene is the alpha-3 chain of laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma). Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have been identified. 1600080,1580863 8586427,17825249,17466943,17071854,16297184,16219677,15854126,15695818,15694127,15373767,15316072,15149852,15044476,14702039,14695139,12947106,12943669,12915477,12826666,12532327,12477932,12382139,12196012,12136098,11891209,11810295,11775027,11373281,11311202,11278628,10956663,10806203,10801807,9950675,9759651,9395076,9151674,9010770,8939648,8618022,8077230,7921537,7775432,7633458,9597096,11707406 1600080 3909 NM_198129,NM_000227,NG_007853,AB107369,AC010754,AC067796,AC090366,AJ330420,AA001432,AB208853,AF005258,AK024889,AK096422,AY327114,AY327115,AY327116,BC033663,BC043618,BC093406,CA427431,CB990144,CR621377,L34155,L34156,X84392,X84900,X85107,X85108 NP_937762,NP_000218,BAD13428,BAD92090,AAC51867,AAQ72569,AAQ72570,AAQ72571,AAH33663,AAH93406,AAA59483,AAA59484,CAA59114,CAA59325,CAA59428,CAA59429,O14637,Q14732,Q16787,Q566Q1,Q59HA6,Q6VU67,Q6VU68,Q6VU69,Q76E14,Q99533 Hs.436367 GDB:251818 E170|LAMNA|LOCS|lama3a protein-coding 1320894 LAMA4 laminin, alpha 4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 7959779,17646580,17533363,16824487,16344560,16169070,16146715,15915502,15231748,15086543,14980521,14574404,12477932,12454288,12445830,12393739,12133914,11311202,11102753,10934193,9310354,9271224,9060828,8706685,8077230,7921537,7781776,9597096 3910 X91171,NM_001105206,NM_002290,NM_001105209,NM_001105208,AL590106,CH471051,Y14240,Z99289,AB210027,AJ710266,AK027151,BC004241,BC026237,BC066552,BT006690,BX648467,CR407622,DB271101,S78569,X70904,X76939,NM_001105207 CAA62596,Q05CF9,Q16363,Q5D044,Q5H8X0,Q6LET9,Q99737,Q9BTB8,NP_001098677,NP_001098676,NP_002281,NP_001098679,NP_001098678,CAI12948,CAI12949,CAI12950,EAW48266,EAW48267,EAW48268,EAW48269,EAW48270,CAA74636,CAB16554,CAI42325,CAI42332,CAI42333,BAE06109,AAH04241,AAH26237,AAH66552,AAP35336,CAG28550,AAB34635,CAA50261,CAA54258 Hs.654572 GDB:203904 DKFZp686D23145|LAMA3|LAMA4*-1 protein-coding 1354079 LAMA5 laminin, alpha 5 Components of the extracellular matrix exert myriad effects on tissues throughout the body. In particular, the laminins, a family of heterotrimeric extracellular glycoproteins, affect tissue development and integrity in such diverse organs as the kidney, lung, skin, and nervous system. It is thought that laminins mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminins function as heterotrimeric complexes of alpha, beta, and gamma chains, with each chain type representing a different subfamily of proteins. The protein encoded by this gene belongs to the alpha subfamily of laminin chains and is a major component of basement membranes. Two transcript variants encoding different isoforms have been found for this gene, but the full-length nature of one of them has not been determined. 1580863 9271224,17888902,17482449,17137774,17000025,16940506,16870608,16723698,16537560,16460839,16339173,12242717,11985661,11891225,11821406,11780052,11572484,11352943,11311202,11159210,11133776,11104726,10964957,10964500,10671376,10620696,10617638,10207021,9628581,9353324,9245798,9006922,9597096,15774758,12244066,16289162,16226104,16179086,15975931,15967115,15579904,15302884,15231748,14691145,14612440,12875969,12817023,12743034,12691260,12682087,12477932,12393739,12382139,12379663,12366691 3911 AB011105,AB067494,AF443072,AK074307,BC003355,BC015386,BC085017,Z95636,NM_005560,AL354836,CH471077,AB010099 BAA31347,BAA25459,BAB67800,AAM12527,AAH03355,AAH85017,CAB09137,O15230,O75079,Q5JTP4,Q5U4N9,Q8TDF8,Q9BTT3,NP_005551,CAC22310,CAI12295,EAW75372,EAW75373,EAW75374 Hs.473256 GDB:7087500 KIAA1907 protein-coding 1314859 LAMB1 laminin, beta 1 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. 1624317,1580863 16289578,14557481,15894315,3493487,18162078,16713569,16344560,16335952,16146715,15987446,15967115,15706419,15474030,12853948,12743034,12615822,12477932,11891225,11311202,11096140,11067943,10964500,10801807,10671376,10407855,10225960,9647658,9435560,9309712,9196901,9184849,7921537,3661559,3611077,2704655,2563160,1975589,1864606 1624317 3912 NM_002291,AC005046,AC078853,CH236947,CH471070,M55370,M61951,BC026018,BC044633,BC052598,BC113455,BX648251,CR601216,CR622254,DA861108,M20206,M61916 NP_002282,AAS07514,EAL24388,EAW83423,EAW83424,AAA59485,AAA59486,AAH26018,AAI13456,AAA59487,AAA59482,P07942,Q75MC8,Q8TAS6 Hs.650585 GDB:119357 CLM|MGC142015 protein-coding 733412 LAMB2 laminin, beta 2 (laminin S) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5' splice site (gc) in the 5' UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. 728961,1580863 7698745,18065803,18058136,17804866,17426950,17371932,16921188,16912710,16898484,16146715,15603881,15367484,15342556,15146197,14702039,11891225,11311202,10964500,10454804,10393422,8662701,7967523,7921537,7795887,2922051,10671376 728961 3913 NM_002292,AC135506,CH471055,Z68155,Z68156,AK094050,BP354643,CN265778,CN265784,CV814167,S77512,X72760,X79683 NP_002283,EAW64958,EAW64959,CAA92279,BAC04272,AAB34682,CAA51288,CAA56130,P55268,Q15483,Q8N9Q8 Hs.439726 GDB:132363 LAMS laminin, beta 2 protein-coding 1346017 LAMB2L laminin, beta 2-like 8889548,10393422,9925618 22973 NR_004405,AJ009558 GDB:9957803 pseudo 1344175 LAMB3 laminin, beta 3 The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. 1600209,1580863 7550320,7774918,17476356,16710414,16147969,15854126,15538630,15489334,15373767,15370542,15363037,15342556,15331737,15149852,15146197,12477932,11867230,11689492,11311202,11296269,10964684,10806203,10577906,9989793,9856855,9840442,9767254,9579554,9501007,9457915,9242513,9205497,8824879,8530036,8088808,7775432,7706760,7698759,7550237,7512558 1600209 3914 NM_000228,NM_001017402,NG_007116,NM_001127641,AL023754,AL031316,CH471100,U17744,U17745,U17746,U17747,U17748,U17749,U17750,U17751,U17752,U17753,U17754,U17755,U17756,U17757,U17758,U17759,U17760,AK309524,AL555685,AY035783,BC058922,BC075838,BP350980,BX345166,CN414822,D37766,L25541 NP_000219,NP_001017402,NP_001121113,CAA19297,CAI19989,CAI20061,CAI20062,EAW93448,EAW93449,AAC51352,AAK61364,AAH75838,BAA22263,AAA61834,Q13751,Q5THA1 Hs.497636 GDB:251820 BM600-125KDA|FLJ99565|LAM5|LAMNB1 protein-coding 1342609 LAMB4 laminin, beta 4 11311202,9847074,16344560,16228230,12477932,11483367,11329013 22798 NM_007356,AC005048,AF172277,CH236947,CH471070,AF028816,AF029325,BC045172,BC140804,BC142619,BG216241,DA859196 NP_031382,AAF22284,EAL24387,EAW83425,EAW83426,AAC95123,AAC95124,AAH45172,AAI40805,AAI42620,A4D0S4,O95127,Q9UHI2 Hs.62022 GDB:9956712 protein-coding 1318553 LAMC1 laminin, gamma 1 (formerly LAMB2) Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3' UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. 1580863 15159456,15561105,9885251,14557481,17554784,17021862,16344560,16335952,16146715,15967115,15370542,15231748,15146197,12754519,12743034,12615822,12526023,12477932,12111806,11891225,11311202,11133776,11067943,10964500,10671376,9755123,9733643,9647658,8889548,7921537,7698745,3552045,3402995,3360804,3234037,2922051,1985895,1806043,16189514 3915 NM_002293,AL354953,AL450304,CH471067,M55210,BC015586,BC035429,BC067813,BF507385,BI768612,CF125114,CN388644,CR593573,DA401791,J03202,M27654,X13939 NP_002284,CAH70981,EAW91144,EAW91145,AAA59492,AAH15586,AAH67813,AAA59488,AAA59489,CAA32122,P11047,Q5VYE7,Q6NVY8,Q96BH6 Hs.609663 GDB:120136 LAMB2|MGC87297 protein-coding 1315384 LAMC2 laminin, gamma 2 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3' terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. 1600210 12517801,12477932,12197671,12138239,11992550,11920553,11810295,11733994,11564184,11311202,11279058,10964684,10951251,10806203,10801807,10749670,10713141,9989793,9721586,9010770,8786121,8306988,8265624,8012393,7987320,7921537,7849725,1383240,12519076,8012394,18332212,17786338,17426950,17390227,17314405,16870608,16710414,16395714,16285938,16103736,15963983,15854126,15743799,15609083,15373767,15370542,15363037,15149852,15105812,14632187,12643602 1600210 3918 NM_005562,NM_018891,NG_007079,AL354953,CH471067,U31178,U31179,U31180,U31181,U31182,U31183,U31184,U31185,U31186,U31187,U31188,U31189,U31190,U31191,U31192,U31193,U31194,U31195,U31196,U31197,U31198,U31199,U31200,U31201,BC112286,BC113378,X73902,Z15008,Z15009 NP_005553,NP_061486,CAH70980,EAW91146,EAW91147,AAC50457,AAC50456,AAI12287,AAI13379,CAA52108,CAA78728,CAA78729,Q13753,Q14DF7,Q2M1N2 Hs.591484 GDB:136225 B2T|BM600|CSF|EBR2|EBR2A|LAMB2T|LAMNB2|MGC138491|MGC141938 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 1319725 LAMC3 laminin, gamma 3 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. However, it was also found that the gamma 3 is a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. 1580863 10225960,16303743,11311202,11162474,7921537 10319 NM_006059,AL157938,AL355872,AL583807,CH471090,AB208887,AF041835,AK075536,AL133595,AL551493,BX327938,CR618197,R45355 NP_006050,EAW87954,EAW87955,EAW87956,EAW87957,BAD92124,AAD36991,BAC11679,CAB63732,Q59H72,Q5JTC5,Q5VUP0,Q5VUP1,Q8N2D6,Q9UF61,Q9Y6N6,AAI56275 Hs.201805 GDB:9956303 DKFZp434E202 protein-coding 737544 LAMP1 lysosomal-associated membrane protein 1 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. 1580863 3174652,15292400,16542649,17506821,17048695,16887987,16778144,16718270,16710742,16570122,16335952,15916720,15744340,15052658,14702039,12754519,12477932,12230470,12144129,10222041,9482728,8647888,8517882,8323299,7569928,3198605,3131762,2912382,2584229,2332441,2243102,1959930,16189514 3916 AL136221,CH471085,L08576,L08577,L08578,L08579,L08580,L08581,L08582,AB209319,AK092398,BC006345,BC007845,BC021288,BC025335,BC093044,NM_005561,BU849686,CR593667,CR598041,CR613424,CR626636,DB462451,J03263,J04182 NP_005552,CAI13797,EAX09202,EAX09203,AAF66141,BAD92556,AAH06345,AAH07845,AAH21288,AAH93044,AAA59524,AAA60382,P11279,Q59FZ0,Q8WU33,Q96I40,Q9BRD2,Q9NP13,ABM83540,ABM86780 Hs.494419 GDB:120137 CD107a|LAMPA|LGP120 lysosomal membrane glycoprotein 1 protein-coding 1344665 LAMP1L1 lysosomal-associated membrane protein 1-like 1 3919 GDB:125387 735952 LAMP2 lysosomal-associated membrane protein 2 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. 1580822,1580823,1580826,1580863 15229288,15297306,18403758,18004770,17899313,17873513,17506821,17296900,17048695,16570122,16344560,16335952,16190986,16144992,15907287,15894275,15772651,15673802,15489334,15340161,14561493,12754519,12505983,12477932,12144129,11139587,10972294,10222041,9746610,9668075,9010755,8995204,8743190,8660832,8517882,8323299,7999007,7488019,7487911,3198605,2912382,2332441,2243102,2032724,1959930,15333840 1580822,1580823,1580826 3920 NM_013995,NM_001122606,AC002476,CH471107,L09717,AK291090,AY561849,BC002965,BC040653,BP386088,CR606114,CR607757,CR616621,DA405328,J04183,S79873,U36336,X77196,NM_002294 NP_002285,NP_054701,NP_001116078,AAB67313,AAB67314,EAX11881,EAX11882,EAX11883,EAX11884,AAB41647,BAF83779,AAS67876,AAH02965,AAA60383,AAB35426,AAA91149,CAA54416,P13473,Q6Q3G8,Q9UD93,ABM83021,ABM86214 Hs.496684,Hs.709628 GDB:125376 CD107b|LAMPB|LGP110 lysosomal membrane glycoprotein 2 protein-coding 1317407 LAMP3 lysosomal-associated membrane protein 3 9721848,18292234,17606713,17056097,16887987,16344560,16204031,15489334,15111122,12477932,9768752 27074 NM_014398,AC104641,CH471052,AB013924,AJ005766,BC032940,BI462212,DA994656,DC399447 NP_055213,EAW78337,EAW78338,BAA34533,CAA06691,AAH32940,Q9UQV4,ABM83044 Hs.518448 GDB:11502484 CD208|DC-LAMP|DCLAMP|LAMP|TSC403 protein-coding 1350131 LAMR1P12 laminin receptor 1 pseudogene 12 1649122 3917 1347545 LAMR1P13 laminin receptor 1 pseudogene 13 1649122 3923 1348591 LAMR1P2 laminin receptor 1 pseudogene 2 387057 1349946 LAMR1P6 laminin receptor 1 pseudogene 6 414254 1347679 LAMR1P9 laminin receptor 1 pseudogene 9 414256 69464 LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial) This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. 1580863 9512664,15082773,15489334,12477932,11474189,10944443 10314 NM_006055,AC007970,AJ289236,CH471063,BC007041,BC028685,CR541777,CR608947,Y11395 NP_006046,AAY14696,CAC21950,EAW70487,EAW70488,EAW70489,EAW70490,EAW70491,AAH28685,CAG46576,CAA72205,O43813,Q53TN2,Q6FHH6,ABM84706 Hs.13351 GDB:9958722 GPR69A|p40 protein-coding 1321926 LANCL2 LanC lantibiotic synthetase component C-like 2 (bacterial) 1580863 11762191,12566319,15489334,14702039,12853948,12477932,9373149,8125298 55915 NM_018697,AC073347,CH236957,CH471201,AA994905,AB035966,AF353942,AJ278245,AK095857,AK225958,AL713665,BC004887,BC070049,BF590020,BI869599,CR619072,CR620619 NP_061167,AAQ93360,EAL23810,EAW50968,BAA96800,AAK83286,CAC21715,CAD28471,AAH04887,AAH70049,Q6NSL4,Q9NS86 Hs.595384,Hs.655117 GDB:9956278 GPR69B|MGC87139|TASP protein-coding 1349608 LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) 12477932 347404 NM_198511,AL121577,AL627244,CH471141,AK124915,BC093667,BC093669 NP_940913,EAW59455,BAC85993,AAH93667,AAH93669,Q6ZV70 Hs.521932 FLJ42925 protein-coding 1317491 LAP3 leucine aminopeptidase 3 1580863 9373149,1908238,16513116,15489334,14702039,12477932,8506345,8125298,6350155,4692835,3733731,1602151,752543,752511,689684 51056 NM_015907,AC006160,CH471069,AF061738,AK022055,AK130293,AK225511,BC006199,BC065564,BI827557,BM800626,CR457128,CR593546,CR601185,CR602931,CR604573,CR605730,CR615225,CR620660,CR623098 NP_056991,EAW92780,AAD17527,AAH06199,AAH65564,CAG33409,P28838 Hs.570791 GDB:11508411 LAP|LAPEP|PEPS protein-coding 1346215 LAPTM4A lysosomal-associated protein transmembrane 4 alpha This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. 1580863 10942595,15489334,12975309,12477932,8621662,7788527 9741 AK129875,NM_014713,AC079145,AC098828,CH471053,AY359028,BC000421,BC003158,BC093075,CB962971,CR456758,CR594890,CR597537,CR599013,CR599755,CR602246,CR604791,CR604820,CR605678,CR607529,CR607775,CR607830,CR608072,CR611436,CR612473,CR613521,CR615552,CR618524,CR618630,CR619265,CR621011,CR621170,CR622236,CR623001,CR624947,D14696 EAX00833,EAX00834,EAX00835,EAX00836,NP_055528,AAX88938,AAY24172,AAQ89387,AAH00421,AAH03158,AAH93075,CAG33039,BAA03522,Q15012,Q4ZG00,Q53QZ6,Q6IBP4,Q9BTU8 Hs.467807 GDB:10797006 HUMORF13|KIAA0108|LAPTM4|MBNT|Mtrp protein-coding 1323527 LAPTM4B lysosomal associated protein transmembrane 4 beta 1580863 17965115,17074969,16769693,16381901,16303743,15968325,15911104,15489336,15489334,15162524,12902989,12640618,12477932,11230166,11076863 55353 BC038117,CR594459,CR618053,CR623862,CR624328,NM_018407,AP002906,AP003357,AY198226,AY219176,AY219177,CH471060,AF317417,AF527412,AI079853,AK075326,AL136942,AY057051,AY261384,BC014129,BC031021 AAH38117,Q0JSE7,Q86SJ0,Q86VI4,Q9NY06,CAL37604,CAL38567,NP_060877,AAO63563,AAO64358,AAO64359,EAW91763,AAK69595,AAP14034,BAC11549,CAB66876,AAL17908,AAO84265,AAH14129,AAH31021 Hs.492314 LAPTM4beta|LC27 protein-coding 1354375 LAPTM5 lysosomal associated multispanning membrane protein 5 1580863 8661146,15231748,12886255,12527926,12477932,7788527 7805 NM_006762,AL137027,AL137857,CH471059,AK292009,BC106896,BC106897,CR607037,CR607333,CR626282,D42042,U30498,U51240 NP_006753,CAI19321,EAX07640,EAX07641,BAF84698,AAI06897,AAI06898,BAA07643,AAA74018,AAB08975,Q13571,Q3KP54,Q5TBB8 Hs.371021 GDB:9784613 MGC125860|MGC125861 protein-coding 1318927 LARGE like-glycosyltransferase This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. 1358756,1580863 9892679,17878207,17436019,15958417,15752776,15661757,15489334,15461802,15210115,15184894,12966029,12477932,12140558,10591208,9628581 1358756 9215 NM_133642,NM_004737,AL008630,AL008640,AL008715,AL023577,AL096754,AL133451,CH471095,Z68287,Z69042,Z69943,Z70288,Z82173,AB011181,AI167885,AI198348,AI199197,AJ007583,BC117425,BC126404,BF057493,CR456510,CR607752,DR000293 NP_598397,NP_004728,CAI17890,EAW60041,EAW60042,EAW60043,CAI18754,BAA25535,CAA07571,AAI17426,AAI26405,CAG30396,O95461,CAK54540,CAK54839 Hs.474667 GDB:9955481 KIAA0609|MDC1D protein-coding 1603686 LARP1 La ribonucleoprotein domain family, member 1 17353931,17081983,16964243,15489334,15324660,15302935,15060081,14702039,12477932,10878606,9872452 23367 BC038220,BQ422667,NM_033551,AC008379,AC112169,CH471062,AB018274,AK091465,AL133034,BC001460,BC003063,BC010144,BC015573,BC033856,NM_015315 Q6PKG0,ABZ92312,NP_056130,NP_291029,EAW61632,EAW61633,EAW61634,BAA34451,BAC03668,CAB61364,AAH01460,AAH33856 Hs.292078 KIAA0731|LARP|MGC19556 protein-coding 1605666 LARP2 La ribonucleoprotein domain family, member 2 This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. 14702039,12477932,12045101 55132 NM_018078,NM_178043,NM_032239,AC096898,AC099340,AC108045,AC114735,AC124030,CH471056,AK001240,AK027164,AK092764,AK098437,AL137759,AL832170,BC002840,BC018794,BC030516,BC050654,BC062606,BC110300,BX537937 CAD97908,Q659C4,AAI48513,NP_060548,NP_835144,NP_115615,AAY41042,AAY41031,EAX05184,EAX05185,EAX05186,EAX05187,BAA91576,BAB15679,BAC03970,BAC05306,CAH56379,CAH56210,AAH30516,AAH50654,AAH62606,AAI10301 Hs.657067 DKFZp686L13217|MGC117277|MGC75174 protein-coding 1603283 LARP4 La ribonucleoprotein domain family, member 4 16682284,15572213,15498874,14702039,12477932,9110174,8619474 113251 NM_052879,NM_199190,AC090058,CH471111,AF131755,AF370416,AK055521,AK125113,AK291746,AL050205,AL832198,AL833272,AY004310,NM_199188,BC017395,BC022377,BC032444,BX647457,CR936626,BC063479 NP_954658,NP_443111,NP_954660,EAW58139,EAW58140,EAW58141,EAW58142,EAW58143,EAW58144,EAW58145,EAW58146,EAW58147,EAW58148,AAQ15252,BAB70940,BAC86052,BAF84435,AAF86614,AAH17395,AAH22377,AAH63479,CAI56769,Q6P4E2,Q71RC2,Q8TBL5,Q8WVX5,Q96J85 Hs.696260 DKFZp686E039|MGC74631|PP13296 protein-coding 1321780 LARP5 La ribonucleoprotein domain family, member 5 737633 17081983,16964243,15489334,15164054,12477932,9039502 737633 23185 CH471072,AK292946,BC003381,BC131630,BC152443,CR599351,CR749653,D86971,NM_015155,AL157709,AL359878 CAI13662,CAI13663,EAW86530,EAW86531,BAF85635,AAH03381,AAI31631,AAI52444,CAH18446,BAA13207,Q92615,Q9BTS9,NP_055970,CAI39596,CAI39597,CAI13661 Hs.681734,Hs.706914 DKFZp686M23113|KIAA0217|RP11-164C1.3 protein-coding 1605069 LARP6 La ribonucleoprotein domain family, member 6 17383118,17081983,15489334,14702039,12477932 55323 NM_018357,NM_197958,AC009269,AC090868,CH471082,AF443828,AF443829,AK002058,AK130092,AL833876,BC006082,BC009446,BC014018,BC039153,BI913258,CR592697 NP_060827,NP_932062,EAW77860,EAW77861,AAN76710,AAN76711,BAA92061,CAD38733,AAH06082,AAH09446,AAH14018,AAH39153,Q5XKE4,Q9BRS8 Hs.416755 ACHN|FLJ11196 protein-coding 1604813 LARP7 La ribonucleoprotein domain family, member 7 18249148,18191186,16344560,15146197,12477932,9373149,8889548,8125298,18281698 51574 NM_016648,NM_015454,AC106864,CH471057,AF068284,AK000274,AK225900,AL049996,BC006981,BC066945,BC107709,BM979591,BX647100,CA314598,CN346208,DB270203,EU667388 NP_057732,NP_056269,EAX06282,EAX06283,EAX06284,EAX06285,AAF65503,CAB43230,AAH06981,AAH66945,AAI07710,ACD13786,Q4G0J3,Q96IZ8 Hs.642978 DKFZP564K112|HDCMA18P|MGC104360|PIP7S protein-coding 1312707 LARS leucyl-tRNA synthetase This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature is not known. 1580863 17378584,17363246,16344560,16055448,14702039,12477932,11829477,11181995,11042152,10913161,10718198,10200289,9878398,9373149,8125298,6933703,1651330,17353931 51520 AK023777,AK025441,AK095870,AK127009,AK225372,AL390155,AY513284,AY926480,BC068041,BC105581,BC110084,BC131798,BC150213,BC151214,BC152422,CK902545,CR606937,D84223,DB086913,U56252,NM_020117,AC091887,AC091959,CH471062,AB037773,AF151026,AK000277,AK001457,AK001682,AK021413 BAB13817,BAB14674,CAB99091,AAT08037,AAX10025,AAH68041,AAI05582,AAI10085,AAI31799,AAI50214,AAI51215,AAI52423,BAA95667,Q0VGM8,Q2TU79,Q2YDT1,Q6NVI4,Q9H8E3,Q9HAM7,Q9NPU8,Q9NVC0,Q9NVP8,Q9P0T1,Q9P2J5,NP_064502,EAW61848,EAW61849,EAW61850,BAA92590,AAF36112,BAA91702,BAA91833 Hs.432674 GDB:119358 FLJ10595|FLJ21788|HSPC192|KIAA1352|LARS1|LEURS|LEUS|LRS|PIG44|RNTLS|hr025Cl protein-coding 1318191 LARS2 leucyl-tRNA synthetase 2, mitochondrial This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. 1580863 15919814,15737668,15489334,15123417,12821328,12549915,12527375,12477932,10647888,9408748,7584028,7584026,1684970 23395 NM_015340,AC006515,AC092500,AC099539,AJ312685,CH471055,AK025465,AK026113,BC025989,BI463427,CR620253,D21851 NP_056155,CAC35916,EAW64740,AAH25989,BAA04877,Q15031,Q9BQR0,ABM92170,ABW03301 Hs.526975 KIAA0028|LEURS|MGC26121 protein-coding 1354295 LAS1L LAS1-like (S. cerevisiae) 737633 17353931,16964243,15772651,15635413,15489334,14702039,12477932,12429849,9373149,8125298 737633 81887 NM_031206,AL050306,CH471132,AF116730,AK022587,AK054817,AK074087,AK097383,AK125760,AK225059,BC014545,BC018610,BC019302 NP_112483,CAB51351,CAI42835,CAI42836,EAX05401,EAX05402,EAX05403,EAX05404,AAO15306,BAB14114,BAB84913,AAH14545,AAH18610,AAH19302,Q9Y4W2 Hs.522675 FLJ12525|RP3-475B7.2|dJ475B7.2 protein-coding 68601 LASP1 LIM and SH3 protein 1 This gene encodes a member of a LIM protein subfamily which is characterized by a LIM motif and a domain of Src homology region 3. This protein functions as an actin-binding protein and possibly in cytoskeletal organization. 1580863 7589475,17956604,17376794,16430883,16189514,16094384,15489334,15465019,15004028,14702039,12665801,12571245,12477932,12432067,9848085,9688835,7490069 3927 NM_006148,AC006441,AC110749,CH471152,AK095958,AK289847,BC007367,BC007560,BC012460,X82456 NP_006139,EAW60543,EAW60544,EAW60545,BAF82536,AAH07560,AAH12460,CAA57833,Q14847,ABM82465,ABM85654 Hs.548018 GDB:6175928 Lasp-1|MLN50 protein-coding 1314323 LASS1 LAG1 homolog, ceramide synthase 1 This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. Members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in yeast suggest that the encoded protein is involved in aging. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. 1580863 15489334,15317812,15057824,12477932,12105227,9872981,2034669 10715 AC003972,AC005197,AF105005,AF105009,CH471106,AL120193,BC032615,BC084582,BF343384,BM925585,BX453803,CR614536,CR623677,M62302,NM_198207,NG_003110,NM_021267 AAC24611,AAD16892,EAW84745,EAW84746,AAH84582,AAA58500,P27544,Q5XG75,NP_067090,NP_937850 Hs.412355 GDB:9959028 CerS1|LAG1|MGC90349|UOG1 LAG1 homolog, ceramide synthase 1 (S. cerevisiae)|lag1 longevity assurance homolog 1 (s. cerevisiae) protein-coding 1320742 LASS2 LAG1 homolog, ceramide synthase 2 This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. 11543633,17353931,17081983,16344560,16341674,16263699,15489334,14702039,12477932,16189514 29956 NM_181746,NM_022075,AL590133,CH471121,AF177338,AF189062,AK001105,AK290989,AY091458,BC001357,BC010032,BM764143,BQ219926,DA019883 NP_859530,NP_071358,CAI13329,CAI13330,CAI13331,CAI13332,CAI13333,CAI13334,EAW53497,EAW53498,EAW53499,EAW53500,EAW53501,EAW53502,AAG17982,AAF01058,BAA91505,BAF83678,AAM12028,AAH01357,AAH10032,Q5SZE1,Q5SZE2,Q5SZE3,Q5SZE4,Q5SZE5,Q5SZE6,Q96G23,ABZ92021 Hs.708057 GDB:11500854 CerS2|FLJ10243|L3|MGC987|SP260|TMSG1 lag1 longevity assurance homolog 2 (s. cerevisiae) protein-coding 1319080 LASS3 LAG1 homolog, ceramide synthase 3 1580863 15489334,12477932 204219 BC034500,BC034970,AC015723,AC027020,CH471101,BC027616,BC028703,NM_178842 AAH28703,AAH34500,AAH34970,Q8IU89,ABM81825,ABW03297,NP_849164,EAX02267,EAX02268,EAX02269 Hs.662371 CerS3|MGC27091 protein-coding 1319578 LASS4 LAG1 homolog, ceramide synthase 4 1580863 15489334,14702039,12477932,9373149 79603 NM_024552,AC022146,CH471139,AK022151,AK055414,AK222621,AK225394,BC009828,BC063621,CR598338,CR614629,CR623019 NP_078828,EAW68940,EAW68941,EAW68942,EAW68943,EAW68944,EAW68945,BAB13972,BAD96341,AAH09828,Q53HF9,Q9HA82,ABM84141,ABM87543 Hs.515111 CerS4|FLJ12089|Trh1 lag1 longevity assurance homolog 4 (s. cerevisiae) protein-coding 1323138 LASS5 LAG1 homolog, ceramide synthase 5 1580863 16951403,17081983,17030510,16100120,15489334,12477932 91012 NM_147190,AC074032,AC139016,CH471111,CQ834406,AK026014,AK058033,BC014637,BC032565,BC033558,CR602245 NP_671723,EAW58131,EAW58132,EAW58133,CAH05418,AAH32565,AAH33558,Q49AQ3,Q8N5B7 Hs.270525 CerS5|FLJ25304|MGC45411|Trh4 lag1 longevity assurance homolog 5 (s. cerevisiae) protein-coding 1343383 LASS6 LAG1 homolog, ceramide synthase 6 15489334,14702039,12477932,11329013 253782 BC035245,BC109284,BC109285,BE745491,BG206657,BX393696,NM_203463,AC009475,AC019086,AC097453,AI521447,AK023042,AK024891,AK091391,AK123214,AK172775,BC030800 AAH30800,AAI09285,AAI09286,Q32M63,Q6ZMG9,NP_982288,BAD18757 Hs.506829,Hs.705995 CerS6|MGC129949|MGC129950 LAG1 homolog, ceramide synthase 6 (S. cerevisiae)|lag1 longevity assurance homolog 6 (s. cerevisiae) protein-coding 1342944 LAT linker for activation of T cells The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 15153499,15144186,15029250,14996932,14702039,14696041,12857726,12847255,12570875,12515827,12477932,12438705,12359715,12186560,12084069,12077228,12029091,11756537,11752630,11572860,11390470,11368773,11279207,11259588,10942756,10811803,10781611,10562325,10506192,10488157,10469124,10449770,10204488,10072481,10021361,9891970,9489702,16938345,12646565,15100278,14722116,11048639,11607830,17652306,17938199,17492476,16906159,16464244,16460687,16236370,16160011,15745852,15699071,15659558,15489334,15449076,9846483,9729044,9529333,8995379,16189514,8995445,15696170 27040 NM_001014989,NM_014387,NM_001014987,NM_001014988,AC109460,CH471267,AF036905,AF036906,AJ223280,AK093815,BC011563,BI769296,BI911769,CR592470,CR597721,CR602091,CR624409 NP_001014989,NP_055202,NP_001014987,NP_001014988,EAW52024,EAW52025,EAW52026,EAW52027,EAW52028,EAW52029,EAW52030,EAW52031,AAC39636,AAC39637,CAA11218,AAH11563,O43561 Hs.632179 GDB:9836615 LAT1|pp36 protein-coding 1342914 LAT2 linker for activation of T cells family, member 2 This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. 1549872 14722116,12514734,12486104,17277102,16713569,16160011,15745852,15489334,11003705,9373149,15153499,15010370,14702039,12853948,12477932,11124535,11042152,8812460,8808592,8125298,16189514 1549872 7462 AK092904,AK225150,AK290074,AK290916,AY190023,BC001609,BC006080,BC009204,BM468969,CR617481,CR619242,CR624255,NM_032464,NM_032463,NM_014146,AC005081,AF045555,CH471200,AF086239,AF161531,AF252611,AF252612,AF252613,AF252614,AF257135,AI492348,AK002099 BAF82763,BAF83605,AAO63155,AAH01609,AAH06080,AAH09204,Q9GZY6,BAA92084,NP_115853,NP_115852,NP_054865,AAS07404,AAS07405,AAF74978,EAW69609,EAW69610,EAW69611,EAW69612,EAW69613,EAW69614,AAF29018,AAK37429,AAK37430,AAK37633,AAK37431,AAF91352 Hs.647049 GDB:6948904 HSPC046|LAB|NTAL|WBSCR15|WBSCR5|WSCR5 williams-beuren syndrome chromosome region 5 protein-coding 1349703 LATS1 LATS, large tumor suppressor, homolog 1 (Drosophila) The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. 1580863 10518011,9988268,10831611,15220930,15122335,17049657,16061636,16007220,15746036,15688006,15489334,15302935,15144186,12624101,12477932,12379777,12372621,9988269,7743921 9113 NM_004690,AL358852,AL583963,BX276089,CH471051,AF104413,AF164041,BC002767,BC015665 NP_004681,EAW47792,AAD16882,AAD50272,AAH02767,AAH15665,O95835,Q59FN4,Q6PJG3 Hs.549084 GDB:9958903 WARTS|wts protein-coding 1314216 LATS2 LATS, large tumor suppressor, homolog 2 (Drosophila) This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. 1580863 10871863,12853976,15131260,10673337,17049657,17015431,16564011,16413547,15746036,15688006,15265683,15147269,14702039,12477932 26524 NM_014572,AL161613,AL356285,CH471075,AB028019,AB209897,AF207547,AK123520,BC036437,BC071572,BC127671,BQ774580,DB452765 NP_055387,EAX08286,EAX08287,BAA92381,BAD93134,AAF80561,AAI27672,Q59EB4,Q5VZE1,Q9NRM7,AAI56424 Hs.78960 GDB:10795443 FLJ13161|KPM protein-coding 1606285 LAX1 lymphocyte transmembrane adaptor 1 12359715,15843560,15489334,14702039,12477932,9373149,8125298 54900 NM_017773,AC114402,CH471067,AK000347,AK225331,AY090784,BC069650,BC089408 NP_060243,EAW91489,EAW91490,EAW91491,BAA91101,AAM09818,AAH69650,AAH89408,Q8IWV1 Hs.272794 FLJ20340|LAX protein-coding 1604525 LAYN layilin 11294894,9786953,15913605,15489334,14702039,12975309,12477932 143903 AK055539,AK055654,AY358554,BC025407,CR590889,CR608344,CR612367,NM_178834,AP002008,CH471065 EAW67143,EAW67144,EAW67145,BAB70946,BAB70978,AAQ88918,AAH25407,Q6UX15,NP_849156 Hs.503831 FLJ30977|FLJ31092 protein-coding 1604281 LBH limb bud and heart development homolog (mouse) 16381901,16094384,15958514,15489336,14702039,12477932,11336496,11230166,11181995,11076863,9373149,8889548,8125298 81606 NM_030915,AC104698,CH471053,AF110224,AF258555,AI302040,AK023425,AK027232,AK092206,AK223541,AL136703,BC012373,BC109376,BC126434,BC130415,BU687531,CN485291,EF025586 NP_112177,AAY24349,AAL36912,AAG23758,BAD97261,CAB66638,AAI09377,AAI26435,AAI30416,ABK30936,Q53QV2,CAL37943,CAL38159 Hs.567598,Hs.593113 DKFZP566J091|MGC104312|MGC163287 protein-coding 1347766 LBP lipopolysaccharide binding protein The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). Finally, this gene is found on chromosome 20, immediately downstream of the BPI gene. 1580863 8432532,2402637,2477488,9665271,14718574,18288274,18056918,18056482,16928689,16907704,16493079,16303759,15932345,15618154,15127192,12932360,12831460,12754215,12615620,12594207,12538700,12521224,12477932,12417309,12117913,11991204,11976738,11780052,11773072,11598069,11544322,11373419,10919979,10811873,10768924,10453023,10079194,9568897,9441745,9338787,9240454,9179291,8663389,7517398 3929 NM_004139,AF013512,AL080249,CH471077,L42172,X98657,AF105067,BC022256,BQ028088,CR592006,CR606921,CR613938,CR621941,M35533 NP_004130,AAC39547,CAC10462,EAW76033,EAW76034,AAA66446,CAA67226,AAD21962,AAH22256,AAA59493,P18428,Q8TCF0,ABM82320,ABM85360 Hs.154078 GDB:131571 MGC22233 protein-coding 736984 LBR lamin B receptor The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. 1600215 8157662,15698635,15882967,15489334,15324660,14718546,14702039,14701833,14617022,12618959,12490533,12490158,12477932,12438562,12118250,11846796,11034899,10828963,10744724,10390541,10049757,9878250,9373149,9169472,9003786,8838815,8663349,8157663,8125298,7679672,2847165,17353931,16189514 1600215 3930 NM_002296,AC092811,CH471098,CQ834832,L25937,L25941,AB209514,AK125116,AK222834,AW504657,BC020079,BE243907,CR611515,CR626457,L25931,NM_194442 NP_919424,NP_002287,EAW69741,EAW69742,EAW69743,CAH05631,AAA59495,BAD92751,BAD96554,AAH20079,AAA59494,Q14739,Q9UI51,ABM81975,ABM85153 Hs.435166 GDB:354673 DHCR14B|LMN2R|MGC9041|PHA protein-coding 1606568 LBX1 ladybird homeobox 1 This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. 8645601,15489334,15164054,12913067,12477932,11309850,7518789 10660 NM_006562,AL135794,CH471066,AJ004949,BC069156,X74863,X90828 NP_006553,CAH72508,EAW49777,CAA06237,AAH69156,CAA52856,CAA62342,O60863,P52954,Q6LBH2 Hs.37128 HPX-6|HPX6|LBX1H|homeobox protein-coding 1347358 LBX2 ladybird homeobox 2 12477932,11386758,9847074 85474 NM_001009812,AC005041,CH471053,AY203953,AY305861,BC150517 NP_001009812,EAW99636,AAP34476,AAP74384,AAI50518,Q6XYB7 Hs.554975 GDB:11500859 LP3727 lady bird-like homeobox 2 (drosophila) protein-coding 1605497 LBXCOR1 LBXCOR1 homolog (mouse) 17637780,16572171,15528197 390598 NM_001031807,AC009292,AY669507 NP_001026977,AAV74188,P84550 Hs.451224 CORL1|FUSSEL15 protein-coding 1346881 LCA3 Leber congenital amaurosis 3 9799089 3789 GDB:9784208 1345568 LCA5L Leber congenital amaurosis 5-like 17546029,15489334,12477932,10830953 150082 NM_152505,AF121781,AL163279,CH471079,BC026122,BC031059,BC043006,BX647793,BX648744,CR599880 NP_689718,AAD12066,CAB90455,EAX09641,EAX09642,EAX09643,EAX09644,AAH31059,AAH43006,O95447 Hs.517284 GDB:11504691 C21orf13|MGC33295 protein-coding 737383 LCAT lecithin-cholesterol acyltransferase This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. 1581773,1581787,1600654,1581779,1581780,1581769,1581781,1581778,1580863 11966470,11435418,4335615,14651331,14718574,10559507,18178167,17855807,17711302,17526537,17357073,17272829,17216278,17206937,17113061,16883530,16780378,16770077,16543491,16542392,16335952,16216249,16115486,16061733,16051254,15994445,15936482,15544352,15489334,15472210,15297675,15115696,15110745,15102891,12966036,12957688,12673583,12573451,12477932,12417987,12174215,12139471,12051518,12048121,12032172,11882335,10858436,9162740,8807342,8675648,8432868,8326012,8318557,7711728,7613477,7607641,6624548,6078131,3797244,3674753,3458198,2880847,2823898,2823801,2370048,2052566,1859405,1737840,1681161,1662503,1644835,1587806,1571050,1516702,1468226,806250,16189514 1581773,1581787,1600654,1581779,1581780,1581769,1581781,1581778 3931 NM_000229,AC040162,AF140503,AY422210,CH471092,M17959,S74079,X04981,BC014781,BT009748,M12625,M26268,X06537 NP_000220,AAD28484,AAR03499,EAW83190,AAA59500,AAB20750,CAA28651,AAH14781,AAP88750,AAA59498,AAA59499,CAB56610,P04180,Q53XQ3,Q9Y5N3 Hs.387239 GDB:119359 lecithin cholesterol acyltransferase protein-coding 1349719 LCCS1 lethal congenital contracture syndrome 1 9683599 8012 1345859 LCE1A late cornified envelope 1A 16710414,15854049,11698679 353131 NM_178348,AL162596,CH471121 NP_848125,CAI19551,EAW53362,Q5T7P2,AAI46368,AAI53156 Hs.534645 LEP1 protein-coding 1349264 LCE1B late cornified envelope 1B 16710414,15854049,12477932,11698679 353132 NM_178349,AL162596,CH471121,BC031811,BC104232,BC104233,BC133657 NP_848126,CAI19550,EAW53363,AAI04233,AAI04234,Q5T7P3 Hs.375103 GDB:11508872 LEP2|SPRL2A protein-coding 1344293 LCE1C late cornified envelope 1C 11698679,16710414,15854049 353133 NM_178351,AL353779,CH471121 NP_848128,CAI20982,EAW53364,EAW53365,Q5T751,AAI40395,AAI46478 Hs.516429 LEP3 protein-coding 1354412 LCE1D late cornified envelope 1D 16710414,15854049,11698679 353134 NM_178352,AL353779,BG697954 NP_848129,CAI20981,Q5T752 Hs.490235 LEP4 protein-coding 1342802 LCE1E late cornified envelope 1E 737633 16710414,15854049,12477932,11698679 737633 353135 Q5T753 NM_178353,XM_001127560,AL353779,CH471121,BC038391 NP_848130,XP_001127560,CAI20980,EAW53366,EAW53367,Q5T753 Hs.250236 LEP5 protein-coding 1346167 LCE1F late cornified envelope 1F 16710414,15854049,11698679 353137 NM_178354,AL353779,CH471121 NP_848131,CAI20979,EAW53368,Q5T754,AAI40331,AAI46482 Hs.553712 LEP6 protein-coding 1351409 LCE2A late cornified envelope 2A 16710414,15854049,12477932,11698679 353139 NM_178428,AL139247,CH471121,BC119707,BC127647 NP_848515,CAI21685,EAW53371,AAI19708,Q5TA79 Hs.334054 LEP9 protein-coding 1347147 LCE2B late cornified envelope 2B This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. 9344646,15854049,11698679 26239 NM_014357,AL139247,CH471121,AF005080,AF086289,BC117235,BC117237 NP_055172,CAI21684,EAW53372,AAB83960,O14633,Q5TA80,AAI46414 Hs.234766 LEP10|SPRL1B|XP5 protein-coding 1344616 LCE2C late cornified envelope 2C 16710414,15854049,11698679 353140 Q5TA81 NM_178429,AL139247,CH471121 NP_848516,CAI21683,EAW53373,Q5TA81 Hs.553713 LEP11 protein-coding 1347104 LCE2D late cornified envelope 2D 16710414,15854049,11698679 353141 Q5TA82 NM_178430,AL139247,CH471121,BC130603,BC130605 NP_848517,CAI21682,EAW53374,AAI30604,AAI30606,Q5TA82 Hs.490225 GDB:11508869 LEP12|SPRL1A protein-coding 1348988 LCE3A late cornified envelope 3A 16710414,15854049,11698679 353142 NM_178431,AL139247,CH471121 NP_848518,CAI21680,EAW53376,Q5TA76,AAI52958 Hs.553714 LEP13 protein-coding 1346486 LCE3B late cornified envelope 3B 16710414,15854049,12477932,11698679 353143 CH878618,NM_178433,AL139247 EAW50651,Q5TA77,NP_848520,CAI21679 Hs.244349,Hs.553715 LEP14 protein-coding 1343921 LCE3C late cornified envelope 3C 16710414,15854049,12477932,11698679 353144 NM_178434,AL139247,AL356426,CH878618,BC130365,BC130367 NP_848521,CAI19188,EAW50650,AAI30366,AAI30368,Q5T5A8 Hs.490211 GDB:11508873 LEP15|SPRL3A protein-coding 1352688 LCE3D late cornified envelope 3D 16710414,15854049,15489334,12477932,11698679 84648 AB048288,NM_032563,AL356426,CH471121,BC069291,BC101784,BC120935,BC120936 EAW53377,NP_115952,CAI19187,BAB40643,AAH69291,AAI01785,AAI20936,AAI20937,Q0IJ72,Q0VAS7,Q3MIL1,Q9BYE3 Hs.244349 LEP16|MGC126833|SPRL6A|SPRL6B protein-coding 1346899 LCE3E late cornified envelope 3E 16710414,15854049,11698679 353145 Q5T5B0 BC131716,NM_178435,AL356426,CH471121 EAW53378,AAI31717,Q5T5B0,NP_848522,CAI19186 Hs.490208 LEP17 protein-coding 1345430 LCE4A late cornified envelope 4A 16710414,15854049,15489334,12477932,11698679 199834 NM_178356,AL139247,BC113446,BC113448 NP_848133,CAI21686,AAI13447,AAI13449,Q5TA78 Hs.447955 LEP8|SPRL4A protein-coding 1352803 LCE5A late cornified envelope 5A 16710414,15854049,11698679 254910 NM_178438,AL135842,CH471121,AW291010 NP_848525,CAI23350,EAW53380,Q5TCM9,AAI40435,AAI56867 Hs.516410 LEP18|SPRL5A protein-coding 1343793 LCE6A late cornified envelope 6A 448835 XM_001721565,XM_001724477,AL162596,CS300793,DQ991251,XM_001724452 XP_001721617,XP_001724529,CAK32457,ABJ55982,A0A183,XP_001724504 Hs.62927 C1orf44 chromosome 1 open reading frame 44 protein-coding 1353715 LCEP1 late cornified envelope pseudogene 1 450208 NG_006116,AL353779 pseudo 1342794 LCEP2 late cornified envelope pseudogene 2 450209 NG_006117,AL353779 pseudo 1346595 LCEP3 late cornified envelope pseudogene 3 450211 NG_006119,AL139247 pseudo 1348136 LCEP4 late cornified envelope pseudogene 4 450210 NG_006118,AL139247 pseudo 1344945 LCK lymphocyte-specific protein tyrosine kinase This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants, encoding the same protein, have been described. 1600225,1580863,1600221 9989602,1548763,15671290,7486703,2470098,7852312,8794306,7513706,14625311,15554700,7504174,16245368,8618896,8506364,10799545,1579166,16116473,11739864,12884910,10358157,8943371,1535787,9344703,9269777,9043947,8883579,9621091,7774645,7539724,8648738,7680610,1622897,12628756,8887682,2040625,1535086,1491632,8870842,7494315,9123823,9036944,7522245,9341793,10422873,15371598,15186530,10208934,8871625,7871751,7831289,7853525,10364375,9075929,15976924,15638726,15078178,14965316,10642173,10544125,9705913,7859737,15892963,11525746,16189514,8294442,1351058,9624175,15980863,15696170,14993658,11278465,12055221,12036857,12007789,11904433,11855827,11854499,11839738,11741956,11741929,11741599,11591716,11572860,11389730,11381116,11369760,11351273,11298344,11294897,11294838,11278738,11075717,11067948,10975838,10921922,10918587,10896916,10880360,10825200,10816433,10799879,10799874,10790433,10764799,10748115,10733577,10669745,10652356,10636863,10617656,10574931,10553045,10488096,10482988,10455176,10447714,10430626,10330160,10318843,10214954,10209036,9973453,9973379,9880255,9792645,9790917,9788619,9751747,9741627,9712716,9710204,9687533,9685404,9664084,9488700,9461588,9446569,9403695,9341123,9312162,9257837,9195899,9178909,9178760,9121430,9092949,9091579,9047237,9045636,9038134,9020138,8995379,8945479,8939988,8879209,8864141,8798764,8797825,8702662,8692915,8663450,8650207,8636141,8626561,8626429,8576267,8576115,8551220,8473339,8405050,8262984,8258691,8139546,8114715,8086341,8077654,8062594,8020561,7961936,7896837,7690989,7682059,7545683,7543024,7539106,7539035,7513045,7512963,7495859,3493153,3489486,3257410,2850479,2835736,2787474,2558056,2115123,2047859,1988541,1709155,1638019,1500851,1385527,214242,8671590,2014052,12732664,11048639,11827988,15489916,17652306,18314490,17998336,17932036,17910071,17897956,17897955,17382937,17118402,17078813,17008721,17005671,16888650,16860758,16769579,16740747,16600997,16474166,16446405,16354835,16344560,16339550,16274251,16257509,16219325,16185072,16107303,16099425,12614355,3265417,15967991,15958529,15867154,15751964,15687496,15641485,15331563,15322115,15263807,15199125,15163734,15144186,15096483,15016553,14766232,14757743,14702039,14699120,14688329,14623872,14610044,14583609,14534291,14523017,14500983,12923183,12899942,12837766,12835311,12817007,12755691,12734017,12697812,12645944,12637327,12589038,12570875,12565834,12560083,12538589,12527887,12496362,12485116,12477932,12468540,12429743,12424250,12415108,12401726,12370810,12359715,12237775,12186560,12181444,12171035,12100025 1600225,1600221 3932 X05027,X06369,X13529,NM_005356,NM_001042771,AL109945,AL121991,BN000073,CH471059,M21510,M26692,M26693,M36824,X14055,AA747421,AF228313,AJ865079,AK098027,BC013200,CR594236,DA007906,DB122062,DB129997,M36881,U07236,U23852,X04476 CAA28691,CAA29667,CAA31884,P06239,Q573B4,Q7RTZ3,ABM82601,ABM85787,NP_005347,NP_001036236,CAI22320,CAI22321,CAD55807,EAX07542,EAX07543,EAX07544,EAX07545,EAX07546,AAA59501,AAA59503,CAA32211,AAF34794,CAI23831,AAH13200,AAA59502,AAA18225,AAC50287,CAA28165 Hs.470627 GDB:119360 YT16|p56lck|pp58lck protein-coding 1351587 LCMT1 leucine carboxyl methyltransferase 1 LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM] 1580863 10600115,16189514,17724024,15489334,14702039,12477932,10810093,9373149,8125298 51451 AL137283,AL560574,BC001214,BC014217,BF058787,BI459868,CR600134,CR611540,CR619407,CR623972,NM_016309,NM_001032391,AC008741,AC133552,CH471145,AF037601,AF151826,AK025884,AK223364,AK225271,AK291885 CAB70677,AAH01214,AAH14217,Q9UIC8,NP_057393,NP_001027563,EAW55771,EAW55772,EAW55773,EAW55774,AAF18267,AAD34063,BAB15270,BAD97084,BAF84574 Hs.337730 CGI-68|LCMT|PPMT1 protein-coding 1314097 LCMT2 leucine carboxyl methyltransferase 2 The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). 12853982,16642040,15489334,12477932,10600115,9628581,16830365,17026958,12485877,15813917 9836 NM_014793,AC009852,DQ102852,AF265443,AK292587,AW505587,BC015949 NP_055608,AAY88744,AAF75774,BAF85276,AAH15949,O60294 Hs.200596 KIAA0547|MGC9534|PPM2|TYW4 protein-coding 1344178 LCN1 lipocalin 1 (tear prealbumin) The protein encoded by this gene belongs to the lipocalin family. Lipocalins are a group of extracellular proteins that are able to bind lipophiles by enclosure within their structures to minimize solvent contact. This protein may bind hydrophobic ligands and inhibit cysteine proteinases. It may also play a role in taste reception. 1580863 8999869,17353931,18334931,17945179,17869594,16249071,15489503,15489334,15461462,12613963,12613961,12613960,12591932,12477932,11850445,11727836,11287427,10558865,9759656,8898072,8500570,8276406,8112601,7679926,7606920,1400345 3933 NM_002297,AL161452,CH471090,L14927,BC065721,BC074925,BC074926,M90424,X62418,X67647 NP_002288,CAI14045,EAW88156,EAW88157,AAA18633,AAH65721,AAH74925,AAH74926,AAA61845,CAA44284,CAA47889,P31025,Q5T8A1,Q5T8T5 Hs.530311 GDB:138345 MGC71975|PMFA|TP|VEGP protein-coding 1347368 LCN10 lipocalin 10 1580863 15363845,14702039,12477932 414332 AL832485,AK091788,AY301271,BC036875,BC040963,BC046377,BC064596,BC133045,NM_001001712,AL355987 CAQ09952,AAQ81976,AAI33046,Q6JVE6,NP_001001712,CAQ09951 Hs.98132 protein-coding 1350830 LCN12 lipocalin 12 15363845,12477932 286256 CH471090,AI681012,AY301272,BC031600,BC041168,BX281250,CR607386,NM_178536,AL807752 CAI12752,CAM14423,EAW88317,EAW88318,EAW88319,EAW88320,AAQ81977,AAH31600,AAH41168,Q5SQ05,Q5SQ06,Q5SQ15,Q5SQ16,Q6JVE5,Q6PIP4,Q8IW14,NP_848631 Hs.440519 MGC34753|MGC48935 protein-coding 1354328 LCN1L1 lipocalin 1-like 1 414161 69453 LCN2 lipocalin 2 1580863 18362300,18317594,18275504,18070344,18064607,18001501,17907186,17901710,17874137,17847728,17721627,17570904,17530720,17360238,17294443,17253959,17229907,17114340,16827865,16798734,16740002,16733850,16671099,16381001,16374475,16335952,16254208,16146540,16061852,16060857,15711640,15691834,15670845,15489334,15342556,15084671,12477932,12473066,11986950,11486081,10777108,10737800,10684642,10529240,10475571,10339412,9842963,9339356,8889548,8633182,8195592,8060329,7997842,7835423,7829063,7683678,7554268,1281792 3934 NM_005564,AL590708,CH471090,X99133,AW778875,BC033089,BF354583,BM977724,BP272828,BX644845,CA454137,CR542092,EU644752,N79823,S75256,X83006 NP_005555,CAI13823,CAI13824,EAW87748,EAW87749,EAW87750,CAA67574,AAH33089,CAG46889,ACD02429,AAD14168,CAA58127,P80188,Q5SYV9,Q5SYW0,Q6FGL5 Hs.204238 GDB:335180 NGAL lipocalin 2 protein-coding 1342771 LCN5 lipocalin 5 353176 AF082221 1349815 LCN6 lipocalin 6 15489334,15363845,14702039,14617364,12975309,12477932 158062 NM_198946,AL355987,CH471090,AF303084,AY301269,AY358598,BC040937,BC062746 NP_945184,EAW88259,EAW88260,AAQ14494,AAQ81974,AAQ88961,AAH62746,P62502 Hs.522504 GDB:11508910 LCN5|UNQ643|hLcn5 protein-coding 1343207 LCN8 lipocalin 8 15363845,15164053,14702039,12477932 138307 NM_178469,AL355987,CH471090,AK090647,AK124003,AK126902,AY301268,BC024235,BC042109,BC128381,BC130465,BC132714 NP_848564,CAI12677,EAW88264,EAW88265,BAC03496,BAC86743,AAQ81973,AAI30466,AAI32715,Q6JVE9,Q6ZT51,Q8NBE9 Hs.323991 EP17|LCN5 protein-coding 1345733 LCN9 lipocalin 9 1580863 15363845,15164053 392399 NM_001001676,AL158822,CH471090,AY301270 NP_001001676,CAD13244,EAW88172,EAW88173,AAQ81975,Q8WX39,AAI46406,AAI48848 Hs.532679 9230102I19Rik protein-coding 1344018 LCO liver cancer oncogene 3014525,2846240 3935 GDB:120139 1603601 LCOR ligand dependent nuclear receptor corepressor LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM] 15489334,15193453,15164054,14702039,12700765,12560079,12535528,12477932,11347906 84458 NM_032440,AL162502,AL442123,CH471066,AB058698,AK023248,AK095345,AL832044,AL832106,AL834245,BC053359,BC128542 NP_115816,EAW49961,EAW49962,EAW49963,EAW49964,EAW49965,EAW49966,BAB47424,CAD91160,CAD91159,CAD38921,AAH53359,AAI28543,Q96JN0 Hs.500695 FLJ38026|KIAA1795|MLR2|RP11-175O19.1 protein-coding 1604965 LCORL ligand dependent nuclear receptor corepressor-like 14702039,12560079,12477932 254251 NM_153686,AC005768,AC079399,CH471069,AK054796,AK055258,AK096181,AL133031,BC037322,BC062661,CR591223 NP_710153,EAW92786,EAW92787,EAW92789,EAW92788,BAB70892,AAH37322,Q8N3X6 Hs.446201,Hs.661849,Hs.677572 FLJ30696|MLR1 protein-coding 1317977 LCP1 lymphocyte cytosolic protein 1 (L-plastin) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. 1580863 2378651,2111166,17294403,17290393,16636079,16344560,16287074,16193335,16115810,15592455,15489334,14756805,14702039,12963694,12477932,11591653,11279160,10903868,3261603,3211125,2252891,1491005,9923600,12119179,16189514,7806577,3864729,10737800,10668786,10446213,9373149,8663066,8428953,8428952,8139549,8125298 3936 AY960627,BC007673,BC010271,BC015001,BC053839,BF893502,CR593418,CR617209,CR936795,DA820090,J02923,M22300,M34426,NM_002298,AL137141,CH471075,L05492,S54531,AB208984,AK058152,AK097275,AK129625,AK223305 AAH07673,AAH10271,AAA63236,AAB02845,AAA36184,P13796,Q53FI1,Q59GX5,Q5TBN3,Q5TBN4,Q5TBN5,Q9NTI9,ABM83861,ABM87183,NP_002289,CAI12167,CAI12168,CAI12169,EAX08757,EAX08758,AAA59529,BAD92221,BAD97025 Hs.381099,Hs.705953 GDB:119361 CP64|DKFZp781A23186|FLJ25423|FLJ26114|FLJ39956|L-PLASTIN|LC64P|LPL|PLS2 protein-coding 732713 LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. 1580863 11048639,11607830,17652306,17420479,17237383,17235283,17148460,16914752,16439309,16356554,16354835,16094384,15708849,15699071,15668918,15623534,15588985,15489334,15388330,15144186,14757747,14722089,14662865,12847255,12817019,12640123,12496421,12477932,12084069,11487585,11390650,11331248,11301322,10993915,10790433,10747096,10660534,10636929,10562326,10556826,10497204,10469124,10229072,10224278,10204582,10026222,10021361,9765283,9716598,9697839,9489702,9341187,9207119,9115214,9047237,8760799,8703037,8702662,8666952,8661136,16189514,15558067,12029088,7706237 3937 NM_005565,AC034199,CH471062,U44065,AK292890,BC016618,BG911397,BT007273,U20158 NP_005556,EAW61478,EAW61479,EAW61480,AAA93308,BAF85579,AAH16618,AAP35937,AAC50135,Q13094,Q14759,Q53XV4,ABM81607,ABM84789 Hs.304475 GDB:1230199 SLP-76|SLP76 lymphocyte cytosolic protein 2 (sh2 domain-containing leukocyte protein of 76kd) protein-coding 1349602 LCS1 lymphedema-cholestasis syndrome 1 10968776 84565 GDB:11500552 1344800 LCT lactase The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma membrane and has both phlorizin hydrolase activity and lactase activity. 1600240,1580863 7487100,2460343,18468259,18454942,18396155,18275674,18194137,18179885,18080747,18042517,18030226,17911653,17706627,17701907,17651714,17574225,17507622,17478481,17451204,17327935,17311063,17159977,17120047,17020404,17015546,16876487,16400612,16391332,16301215,16109658,16024930,15831909,15716664,15667380,15479673,15365657,15178553,15107297,15106124,15054412,14753735,12915462,12795467,12692047,12459179,12011060,11788828,11751874,10677375,8257087,7523415,1902057 1600240 3938 NM_002299,AC011893,CH471058,M61834,M61839,M61840,M61841,M61850,X07994 NP_002290,AAX88924,EAX11622,AAA59504,CAA30801,P09848,Q4ZG58,Q6Y1I9,AAI56076,AAI56951 Hs.551506 GDB:120140 LAC|LPH|LPH1 protein-coding 1602287 LCTL lactase-like 15340161,14702039,12975309,12084582 197021 NM_207338,AC116913,CH471082,AK090598,AY358729 AAI48355,AAI52991,NP_997221,EAW77781,AAQ89091,Q6UWM7 Hs.680983 FLJ33279|KLG|KLPH protein-coding 1321219 LDB1 LIM domain binding 1 9391090,10767331,17910069,16815859,16713569,16189514,15489334,15231748,15164054,14743429,12727888,12642495,12477932,12381786,12153047,11882901,11751867,10640831,10083735,9872335,9799849,9736723,9503020,9452425,9315627,9214632,9209374,12925972,12792813 8861 AB250384,AF064491,AF068652,BC000482,BC009246,BT007054,CV575131,NM_003893,NM_001113407,AJ243098,AL500527,CH471066,AB016485 BAE95402,AAC28341,AAC77818,AAH00482,AAH09246,AAP35703,Q86U70,ABM81698,ABM84859,NP_003884,NP_001106878,CAB45409,CAH72217,EAW49722,EAW49723,EAW49724,BAA31991 Hs.454418 GDB:9957446 CLIM2|NLI protein-coding 1317395 LDB2 LIM domain binding 2 1580863 9880598,9853615,15489334,15231748,12477932,10431247,10083735,9799849,9373149,8125298 9079 AK226029,BC034019,BG704168,CR613635,NM_001290,AC005690,AC097515,AC104656,AC105353,AC106894,CH471069,AF047337,AF052389,AF064492,AF064493,AF068651 AAH34019,O43679,Q4W5E7,ABM82907,ABM86097,NP_001281,AAY40912,EAW92765,EAW92766,EAW92767,AAC83552,AAC13274,AAC28342,AAC28343,AAC77817 Hs.23748 GDB:9958897 CLIM1|LDB1 protein-coding 1351488 LDB3 LIM domain binding 3 1580827,1581815,1580863 10427098,17394203,16476425,16344560,14660611,12477932,11842093,11076863,10727866,10391924,9734811,8681137 1580827,1581815 11155 NM_007078,NM_001080114,NM_001080115,AC067750,CH471142,AA180065,AB014513,NM_001080116,AF086263,AF276807,AF276808,AF276809,AJ133766,AJ133767,AJ133768,AL601484,BC010929,DA762127,DA898241,F33274 NP_001073585,NP_009009,NP_001073583,NP_001073584,EAW80322,EAW80323,EAW80324,EAW80325,EAW80326,EAW80327,EAW80328,EAW80329,BAA31588,AAQ14316,AAQ14317,AAQ14318,CAB46727,CAB46728,CAB46729,AAH10929,O75112,AAI11458 Hs.657271 GDB:9956973 CYPHER|KIAA01613|KIAA0613|ORACLE|PDLIM6|ZASP|ldb3z1|ldb3z4 protein-coding 736025 LDHA lactate dehydrogenase A The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. 1600277,1600281,1300048,1580863 1953713,1445373,1297552,11582518,11125887,15710247,2334430,15231747,17220478,2434947,18039033,17483170,17178662,16766262,16344560,16132575,15635413,15592455,15489334,15240094,14760703,14702039,12712614,12629811,12555229,12477932,12160330,12145195,12107167,11276087,10897012,10508479,9373149,8327147,8125298,7908613,5014440,3838278,3000353,2315312,1959923 1600277,1600281 3939 CR604911,CR604947,CR605162,CR605310,CR605642,CR606407,CR606561,CR606884,CR607173,CR607397,CR607656,CR607825,CR608002,CR608553,CR609869,CR610018,CR610180,CR610402,CR611272,CR611478,CR611744,CR611919,CR612314,CR612498,CR612926,CR612986,CR612995,CR614197,CR615630,CR615816,CR616140,CR616218,CR616887,CR617621,CR618314,CR619244,CR619251,CR620165,CR620388,CR620612,CR620695,CR620732,CR620965,CR621983,CR622058,CR622663,CR623133,CR623502,CR602916,NM_005566,AC084117,CH471064,X03077,AK026515,AK130035,AK130105,AK130587,AK223078,AY423727,BC000749,BC001829,BC067223,BU507758,CD243986,CR456775,CR541714,CR591694,CR592232,CR592389,CR592881,CR593479,CR594030,CR623598,CR623867,CR624433,CR626503,DA609380,X02152,CR594292,CR595202,CR595638,CR596495,CR597065,CR599307,CR599995,CR601009,CR601944,CR602113,CR602464 NP_005557,EAW68395,EAW68396,EAW68397,CAA26879,BAC85389,BAD96798,AAS00490,AAH67223,CAG33056,CAG46515,CAA26088,P00338,Q9UDE9 Hs.2795 GDB:120141 LDH-M|LDH1|PIG19 protein-coding 1354252 LDHAL1 lactate dehydrogenase A-like 1 11990523,9847074,3838278,3793094 3940 NG_003016,AC092437,X02153 GDB:120142 pseudo 1345292 LDHAL2 lactate dehydrogenase A-like 2 3941 GDB:120143 1347892 LDHAL3 lactate dehydrogenase A-like 3 3180843 442013 XM_001718764,AC009413,XM_001726960,XM_001720123 XP_001718816,XP_001727012,XP_001720175 GDB:120144 protein-coding 1353140 LDHAL4 lactate dehydrogenase A-like 4 3180843,3000353 158222 NG_001313,AF461457,AL592293 GDB:120145 pseudo 1346556 LDHAL5 lactate dehydrogenase A-like 5 3180843 3944 AL157788 GDB:120146 protein-coding 1345599 LDHAL6A lactate dehydrogenase A-like 6A 737633 14702039,12477932 737633 160287 NM_144972,AC027544,CH471064,AK131523,AY581313,BC014340 NP_659409,EAW68387,EAW68388,BAD18662,AAS93432,AAH14340,Q6ZMR3,Q96L19 Hs.668877 MGC23940 protein-coding 1342929 LDHAL6B lactate dehydrogenase A-like 6B 1580863 12107167,15489334,14702039,12477932 92483 NM_033195,AC092756,CH471082,CS072266,AK058192,AY009108,AY642121,BC022034 NP_149972,EAW77566,CAI93404,BAB71710,AAG49399,AAT65080,AAH22034,Q9BYZ2 Hs.307052 LDHAL6|LDHL protein-coding 1352174 LDHAL7 lactate dehydrogenase A-like 7 378485 735463 LDHB lactate dehydrogenase B 1300048,1580863 8314553,16130169,17178662,16236267,15592455,15489334,12555229,12477932,12160330,11509017,11276087,10509905,10508479,10211631,9929983,8611651,8462975,3435492,2930497,2334429,1587525,1371976,1081369,11582518,11125887,15710247,16189514 3945 CR590702,CR591075,CR592578,CR596890,CR598156,CR600793,CR601136,CR602865,CR602943,CR603165,CR604960,CR605434,CR606657,CR609530,CR609967,CR612525,CR612775,CR617803,CR624226,CR624424,CR625734,CR625893,Y00711,AC010197,CH471094,X13794,X13800,AK129881,AY189689,BC002362,BC015122,BC022835,BC071860,BT019764,BT019765,NM_002300 CAA68701,P07195,Q5U077,ABM82780,NP_002291,EAW96448,EAW96449,CAA32033,AAO85222,AAH02362,AAH15122,AAH71860,AAV38569,AAV38570 Hs.446149 GDB:120147 LDH-H|TRG-5 protein-coding 1344718 LDHBL1 lactate dehydrogenase B-like 1 3946 GDB:120148 1348419 LDHBP lactate dehydrogenase B pseudogene 2393406 3947 NG_001155,AL442646,M60601 GDB:120149 LDHBL2 pseudo 1349750 LDHC lactate dehydrogenase C Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. 1580863 2440048,17935709,17178662,15489334,14985855,12477932,12438276,11377399,8318584,7382246,3175768,2930531,2844458,2596827,11582518,11125887 3948 BG717645,J02938,U13680,NM_017448,AC027544,AC084117,CH471064,NM_002301,L15230,M24510,M24511,M24512,M24513,M24514,M24515,AF401094,AF401095,AF401096,AF401097,AK058181,AY286300,BC019249,BC064388,BC090043 AAH90043,AAA59507,AAA21348,P07864,NP_002292,NP_059144,EAW68389,EAW68390,EAW68391,EAW68392,EAW68393,EAW68394,AAN87112,AAA59508,AAP37402,AAH19249,AAH64388 Hs.654377 GDB:120150 CT32|LDH3|LDHX|MGC111073 protein-coding 1317689 LDHD lactate dehydrogenase D The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863 12127981,15489334,12477932,11582518,11125887 197257 NM_153486,NM_194436,AC099508,CH471114,AY092767,BC040279,BC047902 NP_705690,NP_919417,EAW95664,EAW95665,EAW95666,EAW95667,AAM50322,AAH40279,AAH47902,Q86WU2 Hs.380929 GDB:11511184 MGC57726 protein-coding 735594 LDLR low density lipoprotein receptor (familial hypercholesterolemia) The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. 1580510,1581823,1580998,1581826,1331525,1581824,1580863,1626106 16129683,16092059,16020744,16015283,15936313,15931608,15899484,15890894,15888448,15864114,15863833,15842735,15823288,15823280,15823276,15797858,15795426,15754974,15741231,15701167,15689450,15677715,15665085,15637307,15630635,15592455,15585340,15556092,15546598,15526154,15489334,15477777,15359125,15321839,15321838,15321837,15286151,15241806,15172466,15166224,15144588,15135251,15133863,15100232,15068387,15015036,14993243,14967814,16179341,16159606,14756670,14746139,14739284,14624402,14616764,14615367,14568562,14557872,14550622,14508510,12975003,12969990,12947119,12944120,12901493,12898587,12873747,6091915,2777800,8626535,17142622,12671190,6299582,10827173,221835,6327078,8300609,18376126,18354102,18317771,18307033,18296645,18288382,18261733,18243212,18210030,18206115,18193043,18097620,18065781,18028451,18006500,17988659,17964958,17935672,17905649,17898945,17889283,17855807,17766366,17709443,17625505,17607901,17566095,17539906,17531953,17517690,17473053,17452316,17445538,17399720,17347910,17335829,17328821,17277381,17273844,17239995,17234631,17223614,17196209,17156886,17094996,17090611,17079229,17044844,16927291,16920108,16907851,16870193,16837242,16828076,16825289,16809787,16806233,16806138,16801348,16796766,16792510,16770077,16750665,16741934,16650578,16627557,16608402,16596945,16465405,16459141,16389549,16378661,16344560,16335952,16289238,16286607,16259478,16205024,11848618,16183066,12820708,12810610,12754519,12746448,12730724,12716819,12705331,12615904,12562867,12551936,12544508,12522687,12493918,12492446,12485531,12477932,12473547,12473254,12464675,12459547,12442279,12417285,12414836,12235180,12221107,12209363,12189808,12169628,12165956,12149270,12121347,12113284,12082592,12072496,12055704,12052488,12048680,12042130,12036962,12031600,12009418,12002911,11997513,11986215,11947895,11933210,11923123,11923121,11916007,11860839,11857755,11851376,11849659,11737238,11702052,11668640,11668627,11524740,11462246,11453971,11332639,11317361,11317192,11298688,11257257,11194026,11173876,11157985,11149418,11100124,11050659,10933493,10906332,10884290,10882754,10832106,10660340,10447263,10422803,10391209,10380922,10206683,10090484,9852677,9837937,9788750,9744476,9733438,9678702,9654205,9265653,9262405,9259195,9254862,9222758,9143924,9104431,9026534,9016531,8889549,8740918,8664907,8555255,8462973,8347689,8182149,8168830,8141835,8096412,7822276,7718019,7649549,7649546,7635482,7635461,7603991,7583548,7581403,7578052,7573037,7550239,6129958,3955657,3924410,3866240,3815525,3627182,3549308,3343347,3263645,3198114,3104336,3020025,3012527,3005267,2988123,2920733,2901412,2855802,2837085,2831865,2805380,2760205,2760198,2726768,2570157,2569482,2544509,2352257,2318961,1999337,1978682,1867200,1833771,1757095,1734722,1634609,1609792,1464748,1446662,1301956,226968,16014965 1580510,1581823,1580998,1581826,1331525,1581824,1626106 3949 AY114155,BC014514,BT007361,BX648281,DA008286,DB081391,M28219,S40543,S70123,AC011485,NM_000527,AF217403,AY324609,AY504954,CH471106,CS173038,L00352,L29401,U59436,AA292214,AB209409 BAD92646,AAM56036,AAH14514,AAP36025,AAA59509,AAB22609,AAB30338,P01130,Q16479,Q59FQ1,NP_000518,Q6LCH2,Q6RCM4,Q9UH51,ABM84805,AAF24515,AAP72971,AAR98971,EAW84168,EAW84169,EAW84170,EAW84171,EAW84172,CAJ33700,AAA56833,AAB02658 Hs.213289,Hs.707048 GDB:119362 FH|FHC low density lipoprotein receptor 1643248 BW138_H protein-coding 1603477 LDLRAD1 low density lipoprotein receptor class A domain containing 1 12477932 388633 NM_001010978,AL353898,CH471059,BC103740,BC127708,BC127709 NP_001010978,CAI22661,CAI22662,EAX06712,AAI27709,AAI27710,Q5T700 Hs.439583 protein-coding 1606368 LDLRAD2 low density lipoprotein receptor class A domain containing 2 12477932 401944 AK127275,BC043362,NM_001013693,AL590103,CH471134 EAW94993,BAC86913,Q5SZI1,NP_001013715,CAI12128 Hs.562227 protein-coding 1605868 LDLRAD3 low density lipoprotein receptor class A domain containing 3 16303743,12477932 143458 NM_174902,AC026269,AC087277,AC129502,AL136146,CH471064,CS051393,AK075546,BC042754 NP_777562,EAW68125,EAW68126,EAW68127,CAI72191,BAC11689,AAH42754,Q86YD5 Hs.708347 protein-coding 1606809 LDLRAP1 low density lipoprotein receptor adaptor protein 1 The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. 1626106,1626107 12451172,12221107,15166224,14528014,17727637,17686643,16984970,16870701,16710414,16344560,16189514,16129683,15728179,15599766,15497461,15489334,14702039,12788851,12746448,12535754,12477932,12464675,12417523,12016260,11897284,11326085 1626106,1626107 26119 AL606491,AY389348,BX572623,CH471059,AK024397,AK091219,AK124554,AL117654,BC029770,DA930479,NM_015627 NP_056442,AAQ90407,CAM12863,EAX07872,EAX07873,EAX07874,EAX07875,BAB14908,CAB56030,AAH29770,Q5SW96,Q9H7R8 Hs.590911 ARH|ARH1|ARH2|DKFZp586D0624|FHCB1|FHCB2|MGC34705 protein-coding 1344664 LDOC1 leucine zipper, down-regulated in cancer 1 The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. 1580863 15588942,15489334,12712434,16189514,10403563,16093683,12477932,15772651,15716091,15670815 23641 NM_012317,AL109799,CH471170,AB019527,AF086537,BC003104,CR457088,CR598988,CR609965 NP_036449,CAC18891,EAW78004,BAA34364,AAH03104,CAG33369,O95751,ABZ92315 Hs.45231 GDB:9958248 BCUR1|Mar7|Mart7 protein-coding 1345067 LDOC1L leucine zipper, down-regulated in cancer 1-like 16093683,15716091,15461802,12477932,11230166 84247 NM_032287,AL023973,Z75407,AK126304,AL136553,BC018713,BC030232,BX648506,CR456439 NP_115663,BAC86521,CAB66488,AAH18713,AAH30232,CAG30325,Q6ICC9,Q8WV61,Q9BQJ3,CAK54468,CAK54767 Hs.332795 DKFZp761O17121|Mar6|Mart6|dJ1033E15.2 protein-coding 1601831 LEAP2 liver expressed antimicrobial peptide 2 LEAP2 is a cysteine-rich cationic antimicrobial peptide (Krause et al., 2003 [PubMed 12493837]).[supplied by OMIM] 15489334,12493837,12477932 116842 NM_052971,AC004500,AJ409064,CH471062,AF143867,AJ306405,AJ409065,AY052782,BC070199,BX443829 NP_443203,CAC51515,EAW62306,EAW62307,CAC51306,CAC51516,AAL14242,AAH70199,Q7Z5F5,Q969E1 Hs.337588 LEAP-2 protein-coding 1347278 LECT1 leukocyte cell derived chemotaxin 1 This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. 737626,1580863 10103018,18077449,17980151,16980969,16142856,15107420,14744535,12477932,11323410,10912526,10750556,10570955,9731231 737626 11061 NM_001011705,AB021290,AF050147,AL139085,AL139089,CH471124,AB005999,AB006000,AY368652,NM_007015,BC025659,CR541910 NP_008946,NP_001011705,BAA77384,AAC98971,CAI14107,CAI14108,CAI17074,EAW52047,EAW52048,BAA86262,BAA33443,AAQ72693,AAH25659,CAG46708,O75829,Q5TAM4,Q6UJZ0,Q8TAY6 Hs.421391 BRICD3|CHM-I|CHM1 protein-coding 1313416 LECT2 leukocyte cell-derived chemotaxin 2 This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. 1580863 8877413,9545637,9266841,15561249,15561248,15489334,15372022,15243190,15239100,12477932,11752456,10857804,9832057,9524238 3950 NM_002302,AB007546,AC002428,AC004763,CH471062,AV661075,BC093670,BC101579,BI825931,D63521 NP_002293,BAA25669,AAB66905,AAC17734,EAW62201,AAH93670,AAI01580,BAA23609,O14960 Hs.512580 GDB:9786123 MGC126628|chm-II|chm2 protein-coding 735736 LEF1 lymphoid enhancer-binding factor 1 Lymphoid enhancer-binding factor-1 (LEF1) is a 48-kD nuclear protein that is expressed in pre-B and T cells. It binds to a functionally important site in the T-cell receptor-alpha (TCRA; MIM 186880) enhancer and confers maximal enhancer activity. LEF1 belongs to a family of regulatory proteins that share homology with high mobility group protein-1 (HMG1; MIM 163905).[supplied by OMIM] 1580863,2293188 9751710,12192039,9308964,18316418,17947518,17785445,17785436,17585052,17466981,17360796,17240357,17132729,17063141,16809766,16714285,16565724,16474850,16415175,16142310,16120831,15756419,15750622,15728254,15489334,15245424,15194563,15143193,15000148,14990565,14759258,12901858,12748295,12707037,12589056,12556497,12477932,12446687,12235165,12183361,12161443,12095232,12052822,12048204,12032083,11731474,11696550,11604490,11440173,11326276,11266540,10890911,10756202,9671491,9488439,9373149,9119228,9119227,8757136,8631802,16424171,8125298,7537238,2010090,1989880,1827423,1783375,9843967,15684397,12551949,15525529 2293188 51176 AC092539,AC097067,AC118062,AC123576,AY129650,CH471057,AF086339,AF198532,AF288571,AF294627,AK225772,AL049409,BC040559,BC050632,CR595776,NM_016269,CR597256,CR603385,CR604746 NP_057353,AAN06089,EAX06221,EAX06222,EAX06223,EAX06224,EAX06225,AAF13268,AAG01022,AAG26886,CAH56421,AAH40559,AAH50632,Q3ZCU4,Q659G9,Q8IZI3,Q9UJU2,ABZ92402 Hs.555947 GDB:127556 DKFZp586H0919|TCF1ALPHA lymphoid enhancer binding factor 1 protein-coding 1350904 LEFTY1 left-right determination factor 1 This gene encodes a member of the TGF-beta family of proteins. A similar secreted protein in mouse plays a role in left-right asymmetry determination of organ systems during development. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. 10053005,17038673,16710414,15489334,15308665,12975309,12477932,11100524,10886363,9373149,8125298 10637 NM_020997,AF081504,AF081505,AF081506,AF081507,AL117348,CH471098,AF081512,AK129605,AK222714,AY358873,BC027883 NP_066277,AAC33967,CAI21799,EAW69760,AAD48144,BAD96434,AAQ89232,AAH27883,O75610,ABM87625 Hs.656214 LEFTB|LEFTYB protein-coding 1348079 LEFTY2 left-right determination factor 2 This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. Alternative processing of this protein can yield three different products. This gene is closely linked to both a related family member and a related pseudogene. 1598793 10053005,9153275,3457014,17038673,16303743,15536155,15308665,14702039,12477932,12215426,11100524,10902804,10886363,9665343,9496783,9230066,12665591 1598793 7044 NM_003240,AF081508,AF081509,AF081510,AF081511,AL117348,CH471098,AF081513,AK027520,AK075344,AK094077,BC035718,BC065929,CR591831,CR603549,U81523 NP_003231,AAC32600,CAI21804,EAW69766,EAW69767,AAD48145,BAC11556,AAH35718,AAB53269,O00292 Hs.520187 EBAF|LEFTA|LEFTYA|MGC46222|TGFB4 protein-coding 1605790 LEKR1 leucine, glutamate and lysine rich 1 14702039,12477932 389170 NM_001004316,XM_001725985,XM_001724269,XM_001725663,AC092993,AC106708,AC117392,CH471052,AK094480,AK131473,BC041967 NP_001004316,XP_001726037,XP_001724321,XP_001725715,EAW78718,EAW78719,EAW78720,EAW78721,EAW78722,BAC04365,BAD18618,Q6ZMV7 Hs.478048 FLJ16641|FLJ37161 protein-coding 1604741 LELP1 late cornified envelope-like proline-rich 1 17387579,16710414,15489334,12477932 149018 AX971667,BC087854,BC130507,BC130511,NM_001010857,AL161636 CAF16775,AAH87854,AAI30508,AAI30512,Q5T871,NP_001010857,CAI19557 Hs.125785 protein-coding 1346619 LEMD1 LEM domain containing 1 15254688,12477932 93273 NM_001001552,AC098936,CH471067,AB084764,AB084765,AB085610,AB096677,AB096678,AB096679,AB096680,AB096681,AB096682,AK026628,BC036636 NP_001001552,EAW91554,EAW91555,EAW91556,EAW91557,EAW91558,BAD20779,BAD20780,BAD20781,BAD20782,BAD20783,BAD20784,BAD20785,BAD20786,BAD20787,AAH36636,Q68G75 Hs.655520 GDB:11508991 LEMP-1 protein-coding 1313312 LEMD2 LEM domain containing 2 16303743,12477932 221496 NM_181336,AL158049,CH471081,CQ782927,AK024858,AK026077,AK074959,AK127084,BC039864,BC051803,CR606517 NP_851853,CAI21527,CAI21529,EAX03750,EAX03751,CAF86155,BAC11316,AAH51803,Q8NC56 Hs.444845 dJ482C21.1 protein-coding 1343559 LEMD3 LEM domain containing 3 The MAN antigens, such as MAN1, are nuclear membrane proteins that are recognized by autoantibodies from a patient with a collagen vascular disease. Because MAN1 contains an LEM domain, the gene is also called LEMD3 (for 'LEM domain-containing-3').[supplied by OMIM] 1580863 10671519,17622481,17505164,17223882,17081983,16648637,16470551,15681850,15647271,15601644,15489854,15231748,11896184 23592 AC026124,AF263918,CH471054,AF112299,AK024954,AL137533,NM_014319 NP_055134,AAF73293,EAW97148,EAW97149,AAD31593,CAB70796,Q9Y2U8 Hs.505905 MAN1 protein-coding 69166 LENEP lens epithelial protein The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. 68892,1580863 7641850,10655141,16710414,15489334,12477932,11376938,8889548 68892 55891 NM_018655,AF144412,AL451085,CH471121,AF268478,BC069140,BC096714,BC098148,BC098246,BC098253,BM716801 NP_061125,AAD38378,CAI13265,EAW53152,AAF73074,AAH69140,AAH96714,AAH98148,AAH98246,AAH98253,Q9Y5L5 Hs.272399 GDB:11508576 LEP503 protein-coding 1317415 LENG1 leukocyte receptor cluster (LRC) member 1 15489334,12477932,10941842 79165 NM_024316,AC012314,CH471135,CU151838,CU457734,AF211966,BC014986 NP_077292,EAW72195,CAQ09587,CAP19116,AAG01393,AAH14986,Q96BZ8,ABM83146,ABM86343,ABM86344 Hs.590974 protein-coding 1350052 LENG10 leukocyte receptor cluster (LRC) member 10 10941842 94057 AF211977 Hs.684553 protein-coding 1353076 LENG11 leukocyte receptor cluster (LRC) member 11 10941842 94058 AF211978 protein-coding 1344892 LENG3 leukocyte receptor cluster (LRC) member 3 10941842 79164 AF211968 Hs.631579 protein-coding 1345619 LENG6 leukocyte receptor cluster (LRC) member 6 10941842 79163 AF211971 protein-coding 1314652 LENG8 leukocyte receptor cluster (LRC) member 8 16713569,16239144,16189514,12477932,11572484,10941842 114823 NM_052925,AC008746,CH471135,CU467002,AB067519,AF211973,AF211974,AF211975,AF318338,AL834532,BC028048,CR624593 NP_443157,EAW72248,EAW72249,EAW72250,CAQ08955,BAB67825,AAL55845,CAD39188,AAH28048,Q8WYW0,Q96PV6,ABM83630,ABM85179,ABM86874,ABW03700 Hs.502378,Hs.708753 KIAA1932|MGC40108|pp13842 protein-coding 1317999 LENG9 leukocyte receptor cluster (LRC) member 9 1580863 15489334,12477932,10941842 94059 NM_198988,AC008746,CH471135,AF211976,BC015921 NP_945339,EAW72251,AAH15921,Q96B70 Hs.590976 protein-coding 1602075 LEO1 Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM] 16630820,17081983,16964243,15791002,15632063,15489334,15302935,14702039,12477932 123169 NM_138792,AC090971,CH471082,AK055762,AY302186,BC018147 NP_620147,EAW77432,EAW77433,BAB71006,AAP68819,AAH18147,Q8WVC0 Hs.567662 RDL protein-coding 69123 LEP leptin This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. 1625125,1331525,1580863,1357910,1357909,1643130 15784704,15782310,15760495,15757855,15752580,15736116,15736103,15724240,15677491,15677474,15660115,15655824,15653206,15648019,15624271,15607649,15588162,15588161,15588160,15582127,15576385,15544427,15542348,15533361,15492859,15489334,15483214,15479128,15478389,15784711,15126576,15126241,15114526,15109449,15104370,15080789,15070752,15063934,15059070,15055477,15055469,15052530,15044670,15042602,15037014,15016839,15012781,14993491,14993217,14985328,14978271,14967380,14761840,14739054,14734764,14726619,14726256,14722031,14720418,14715869,14715859,14715846,14683458,14681862,14671171,14636218,14618446,14599116,14567439,14561193,14557480,14514348,14508221,14506615,12969578,12955866,12951634,12914539,12902351,12899679,12898374,12890940,12880122,12865594,12857430,12843185,12829648,12824284,12805399,12805252,12788897,12779248,12773447,12748507,12746757,12734788,12734209,12732844,12727933,12724016,12721156,12713059,12712467,12711260,12707489,12702488,12694970,12690205,12690084,12690082,12690081,12687277,12679465,12679442,12679437,12668159,12665505,12660878,12660261,12659876,12658369,12649069,12647279,12637980,12634434,12634431,12626032,12606591,12590942,12582219,12556356,12552573,12535698,12529499,12519883,12512839,12484512,12482897,12477932,12473840,12468269,12445819,12402972,12396559,12395215,12393845,12376297,12364439,12359239,12354677,12324651,12230820,12218380,12218376,12215445,12213831,12211425,12200109,12199340,12189588,12189581,12187394,12164325,12153747,12153737,12149424,12140788,12133430,12105281,12105280,12100031,12086939,12084725,12073010,12062855,12054648,12053815,12050272,12047393,12037648,12031914,12021212,12010881,12009346,12007531,12003376,11997182,12663125,11997181,17989154,17983356,17967974,17965621,17965293,17957164,17957153,17923273,17913045,17895848,17895321,17884293,17879022,17852540,17850913,17804136,17763005,17728393,17726024,17714215,17705690,17702747,17693966,17690262,17688465,17679810,17666470,17653093,17636087,17618952,17617917,17615382,17609506,17604668,17591803,17587397,17585917,17573060,17562334,17558893,17535427,17506117,17502770,17495032,17485120,17476615,17445536,11994543,11979399,11935372,11934840,11920898,11890967,11886494,11822578,11800057,11797013,11787735,11702849,11508653,11461187,11196643,11140838,11140377,11118025,11068878,11061506,10428856,9924798,9796811,9724081,9500540,9205417,9202122,9166907,9144295,9537324,18490929,18460775,18404969,18398047,18381870,18357374,18316358,18299467,18299466,18299465,18284032,18283238,18280066,18273796,18255222,18242170,18239655,18234641,18226448,18222172,18204121,18198306,18173522,18075970,18059035,18055420,18050615,18040853,18007248,18004080,18000615,18000612,17992641,17443329,17436104,17433782,17404022,17374708,17365928,17362752,17350295,17344504,17344214,17342078,17333366,17325688,17325687,17311679,17299381,17285096,17263085,17240472,17229323,17212806,17207170,17192493,17186687,17184143,17148566,17141244,17122358,17118479,17114907,17072262,17072067,17065346,17062814,17054914,17033261,17031518,17027833,17016694,17006991,17003027,16988079,16936761,16932309,16912864,16883064,16874844,16804073,16799400,16793957,16786343,16774845,16764962,16762576,16756630,16737635,16734391,16705078,16645018,16630717,16621515,16609020,16582918,16580675,16571841,16552343,16534235,16533767,16504019,16497805,16434209,16412323,16359991,16352686,16344560,16343040,16335797,16273647,16273205,16269446,16261186,16244494,16231024,16213321,16173077,16170833,16166222,16160698,16136023,16136022,16135994,16113562,16048798,16009333,15983324,15983199,15978856,15972940,15964364,15952938,15950978,15948239,15944317,15944217,15932773,15928249,15919610,15910756,15905523,15905315,15886225,15882975,15864530,15863950,15855322,15821102,15820811,15811876,15808376,15803114,15797495,15795476,15476444,15374699,15358050,15351798,15340103,15336575,15333744,15324935,15307204,15300888,15292320,15277432,15256287,15254881,15240636,15240518,15232612,15231997,15219792,15181040,15166121,15164950,15161768,15159310,15156414,9054940,8717050,8626726,8621021,8608603,7984236,7789654,7499240,1686014,3952 1625125,1331525,1357910,1357909,1643130 3952 NG_007450,AC018635,AC018662,AY996373,CH236947,CH471070,D63519,D63710,DQ054472,U43415,AF008123,AK313553,BC060830,BC069323,BC069452,BC069527,NM_000230,D49487,DA762132,U18915,U43653,BU752306 NP_000221,AAX81413,EAL24315,EAW83640,BAA09787,BAA09839,AAY46797,AAC31660,AAB63507,BAG36329,AAH60830,AAH69323,AAH69452,AAH69527,BAA08448,AAA60470,AAC50400,P41159,Q4TVR7,Q6NT58 Hs.194236 GDB:136420 FLJ94114|OB|OBS leptin 1643260,1643439,1643497,1643500,1643511,2289166,2289223 BW191_H,BW101_H,BW258_H,BW257_H,BW256_H,SLEP5_H,SLEP9_H protein-coding 735832 LEPR leptin receptor Leptin (LEP; MIM 164160), an adipocyte-specific hormone that regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure, acts through the leptin receptor (LEPR), a single-transmembrane-domain receptor of the cytokine receptor family.[supplied by OMIM] 1600611,1600612,1581846,1331525,1625125,1580863,1357910,1357909 11279102,9537324,18490929,18439701,18426866,18413223,18398047,18357374,18282109,18273796,18249219,18241826,18212354,18204169,18086776,18059035,18050615,18004080,17989154,16609020,16580675,16571841,16540470,16533767,16522905,16504019,16412323,16359991,16352686,16335952,16333525,16231024,16160698,16011872,15997246,15972940,15950978,15944317,15941977,15869602,15840566,15834329,15833934,15784711,15771593,15715521,15660115,15624271,15585384,15564891,15544427,15476448,15337805,15324935,15286449,15254881,15240636,15240518,15192829,15189365,15161768,15159310,15153666,15135067,15132731,15131772,15130412,15126576,15123629,15044660,15016839,14998906,14984939,14972512,14970363,14967380,14718574,14702039,14636218,14625131,14602796,14599116,17983356,17785359,17726024,17680264,17649682,17618952,17615382,17591803,17428620,17415990,17404022,17350295,17285096,17243864,17229951,17212806,17192493,17142261,17124363,17072067,17071538,17065694,17032406,17031518,17006991,16971225,16920065,16807515,16793957,16792872,16788891,16684815,16645018,12824284,12823393,12788897,12734179,12732844,12712467,12679465,12660261,12646666,12634434,12512839,12504075,12489569,12477932,12461680,12457453,12396559,12364439,12359239,12270921,12226096,12199340,12187394,12140788,12105280,12100031,12091248,12086939,12075579,12075576,12054170,12032747,12010881,12006639,11994543,11911959,14521752,12898374,11896492,11729160,11549688,11549273,11508653,11448122,11443193,11380591,11360161,11360155,11354636,11344130,11078732,11018044,10449753,10198230,9929394,9860295,9819414,9786864,9667233,9600917,9405487,9287054,9207021,9175732,9158141,9144432,9061609,8812446,8805376,8743992,8666155,8616721,8608603,8548812 1600611,1600612,1581846,1331525,1625125,1357910,1357909 3953 NM_002303,NM_001003679,NM_001003680,AC097063,AC119800,CQ860097,U59263,AA813024,AK001042,AK290208,BC031086,BC035120,BC131779,BX475249,U43168,U50748,U52912,U52913,U52914,U66495,U66496,U66497 NP_002294,NP_001003679,NP_001003680,CAH25983,AAB09673,BAF82897,AAH31086,AAI31780,AAA93015,AAC23650,AAC50509,AAC50510,AAC50511,AAB07495,AAB07496,AAB07497,P48357,Q4G138,AAI60009 Hs.705413 GDB:1230320 CD295|OBR 2289443 BW413_H protein-coding 1602868 LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 10951563,17277775,16396496,16303743,15489334,15044469,14702039,12477932,10455179 64175 CS051227,AF097431,AF097432,AK025841,AK027648,AK027680,AK027697,AK075418,BC004160,BC015309,BC068461,BC091513,BC108311,BT007039,NM_022356,AC098484,CH471059,CR602313,R67284,CR749690 EAX07142,EAX07143,EAX07144,EAX07145,CAI72109,AAG31018,AAG31019,BAB15256,BAB55264,BAB55291,BAB55305,BAC11608,AAH15309,AAH68461,AAI08312,AAP35688,NP_071751,Q32P28,Q68CW0,CAH18474 Hs.437656 GDB:11510744 GROS1|LEPRECAN|MGC117314|P3H1 protein-coding 1312081 LEPREL1 leprecan-like 1 LEPREL1 belongs to a family of collagen prolyl hydroxylases required for proper collagen biosynthesis, folding, and assembly (Vranka et al., 2004 [PubMed 15044469]).[supplied by OMIM] 1580863 15489334,15063763,15044469,14702039,12477932,10449603 55214 NM_018192,AC016966,AC063939,AC099660,CH471052,AJ430351,AK001580,AK056447,AK125134,BC005029 NP_060662,EAW78109,EAW78110,EAW78111,CAD23039,BAA91769,AAH05029,Q8IVL5 Hs.374191 FLJ10718|MLAT4|P3H2 protein-coding 1313881 LEPREL2 leprecan-like 2 LEPREL2 belongs to a family of collagen prolyl hydroxylases required for proper collagen biosynthesis, folding, and assembly (Vranka et al., 2004 [PubMed 15044469]).[supplied by OMIM] 1580863 15489334,15063763,15044469,14702039,12477932,9074930,8723724 10536 NM_014262,CH471116,U47924,AJ430349,AK025976,AK096771,AK126766,BC017217,BC067251,BC080630,BQ009002,CR598012,U47926,AB209320 NP_055077,EAW88731,EAW88732,EAW88733,EAW88734,AAB51312,CAD23037,BAC86679,AAH17217,AAH67251,AAH80630,AAC50464,Q59FY9,Q6ZTB4,Q8IVL6,BAD92557,AAI56267,AAI57129 Hs.631655 GRCB|HSU47926|P3H3 protein-coding 1353937 LEPROT leptin receptor overlapping transcript 737633,1580863 9207021,16303743,15489334,12477932 737633 54741 NM_017526,AC119800,CH471059,CQ783702,CQ860091,CQ878351,AK074841,AK130096,BC011027,BC056250,BI715133,CB140261,CR541647,CR541737,Y12670 NP_059996,EAX06527,EAX06531,CAF86819,CAH25980,CAH59519,AAH11027,AAH56250,CAG46448,CAG46537,CAA73211,O15243,Q6FHL5 Hs.705413 FLJ90360|LEPR|OB-RGRP|OBRGRP|VPS55 protein-coding 1316198 LEPROTL1 leptin receptor overlapping transcript-like 1 1580863 16303743,16189514,15489334,12975309,12477932,11342119,11042152 23484 NM_015344,AC044849,CH471080,AF063605,AF161461,AK075363,AY277595,AY358674,BC000642,CR541735,CR541760,CR605624,CR620833 NP_056159,EAW63468,EAW63469,EAW63470,AAC98697,AAF29076,AAQ18034,AAQ89037,AAH00642,CAG46535,CAG46560,O95214,Q6FHL7,Q9P040,ABM82823,ABM86009 Hs.146585 GDB:9956624 HSPC112|Vps55|my047 protein-coding 1352340 LETM1 leucine zipper-EF-hand containing transmembrane protein 1 1580863 10486213,17925330,17606466,15489334,15138253,14706454,12665801,12477932 3954 NM_012318,AC105448,CH471131,AF061025,AL133650,BC014500,BC021208 NP_036450,EAW82560,EAW82561,AAD13138,CAB63769,AAH14500,AAH21208,O95202,ABM84532 Hs.120165 GDB:9837398 protein-coding 2293112 LETM1P1 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 1 11549311 390597 XR_017154,XR_038022,XR_019085,NG_007651,AC110048 pseudo 2293160 LETM1P2 leucine zipper-EF-hand containing transmembrane protein 1, pseudogene 2 100131934 XR_038110,NG_007659,AC008751 pseudo 1322565 LETM2 leucine zipper-EF-hand containing transmembrane protein 2 12477932,11549311,16189514 137994 NM_144652,AC087623,CH471080,AK058138,AK289944,AL832241,AY173945,BC024250,BC029541,BC069830 NP_653253,EAW63317,EAW63318,BAB71680,BAF82633,AAO49715,AAH29541,Q2VYF4 Hs.696457 FLJ25409 protein-coding 1344708 LETMD1 LETM1 domain containing 1 18045496,16949218,16278390,14702039,14691448,12879013,12477932,12061725,9373149,8125298 25875 NM_015416,NM_001024668,AC087884,CH471111,AF195651,AF315598,AF329277,AI313513,AK000639,AK057866,AK123080,AK126372,AK127540,AK225836,AL050286,AY259835,AY259836,BC000395,BC019274,BC064943,BM549678,BX343550,CR590466,CR591933,CR595375,CR596903,CR600835,CR602850,CR603920,CR605694,CR612978,CR613739,CR618203,CR623560 NP_056231,NP_001019839,EAW58166,EAW58167,EAW58168,EAW58169,EAW58170,EAW58171,EAW58172,AAK34885,AAL26878,AAL56993,CAB43387,AAP85624,AAP85625,AAH00395,AAH19274,AAH64943,Q6P1Q0 Hs.655272 1110019O13Rik|DKFZp586A011|HCCR-2|HCCR1 protein-coding 2289877 LEUTX leucine twenty homeobox 17963489,11181995 342900 NR_003931,AC005393,CH471126,CR746510,H02655 EAW56915 Hs.451638,Hs.706608 protein-coding 1350319 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene encodes a member of the glycosyltransferase superfamily. The encoded protein is a single-pass type II Golgi membrane protein that functions as a fucose-specific glycosyltransferase, adding an N-acetylglucosamine to the fucose residue of a group of signaling receptors involved in regulating cell fate decisions during development. Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Alternatively spliced transcript variants that encode different isoforms have been described, however, not all variants have been fully characterized. 1302739,1580863 10341080,16385447,16341674,14702039,12477932,12110169,9878264,9187150,11346656,12486116,10935626 1302739 3955 NM_001040167,AC092488,AY124582,CH236953,CH471144,AF193612,AK096284,BC014851,BM854210,U94354,NM_001040168 NP_001035258,NP_001035257,AAM93542,EAW87250,EAW87251,EAW87252,EAW87253,EAW87254,AAF07187,AAH14851,AAC51360,Q8NES3 Hs.159142 GDB:9479049 SCDO3 lunatic fringe homolog (drosophila) protein-coding 1347735 LGALS1 lectin, galactoside-binding, soluble, 1 (galectin 1) The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS1 may act as an autocrine negative growth factor that regulates cell proliferation. 1580863 17353931,12761501,16130169,11256614,18315601,18007053,17984174,17880528,17649808,17616672,17603562,17537433,17535296,17523619,17438085,17390012,17304502,17269744,17182582,17177840,17110462,17043243,16940423,16818733,16785517,16751364,16636291,16530434,16388708,16381901,16247730,16051185,16033063,15972675,15929990,15910247,15862866,15778371,15690107,15663199,15556941,15556936,15489336,15489334,15461802,15297883,15050916,14769876,14693917,14617626,14612929,14550305,14507657,12853445,12823983,12810474,12665801,12615972,12527107,12477932,12271131,12125737,12008046,11937561,11850528,11846886,11709720,11522829,11146440,11076863,10950114,10764829,10642604,10591208,10490978,10425546,10369126,9683529,9572443,9264263,8872948,8449510,8432540,8063692,7869048,7795414,7750127,7501023,3611046,3065332,3020551,2910856,2719964,2719646,2383549,1996404,1988031,1713454,1602151,16189514 3956 CH471095,M57678,Z83844,AB097036,AL832117,BC001693,BC020675,BT006775,CR456511,J04456,S44881,X14829,X15256,NM_002305 P09382,Q0JVC4,Q15954,CAL37536,CAK54541,CAK54840,ABM83189,ABM86391,NP_002296,EAW60178,AAB00777,CAB42897,BAC77389,AAH01693,AAH20675,AAP35421,CAG30397,AAA36170,AAB19412,CAA32938,CAA33328 Hs.445351 GDB:126889 DKFZp686E23103|GAL1|GBP protein-coding 1315798 LGALS12 lectin, galactoside-binding, soluble, 12 (galectin 12) 1580863 15131127,12477932,11283015,11435439,15489334 85329 NM_033101,AP001591,CH471076,AF222694,AF222695,AF244974,AF244975,AF244976,AF244977,AF310686,AF310687,BC028222 NP_149092,EAW74151,EAW74152,EAW74153,EAW74154,EAW74155,AAF34676,AAF34677,AAK77328,AAK77329,AAK77330,AAK77331,AAG40863,AAG40864,AAH28222,Q96DT0,Q9NZ03 Hs.502774 GDB:11505023 GALECTIN-12|GRIP1 protein-coding 1344564 LGALS13 lectin, galactoside-binding, soluble, 13 (galectin 13) Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. 1580863 10527825,18186153,17618748,15489334,15193867,15009185,12477932,12459492,11742106,10571079,10395961,6856484 29124 NM_013268,AC005205,AM259729,CH471126,AF117383,AY055826,BC066304,BC069312 NP_037400,CAJ97436,EAW56910,AAF22001,AAL09162,AAH66304,AAH69312,Q1M314,Q9UHV8 Hs.23671 GAL13|PLAC8|PP13 protein-coding 1602105 LGALS14 lectin, galactoside-binding, soluble, 14 This gene is predominantly expressed in placenta. The encoded protein belongs to the galectin (galaptin/S-lectin) family. The members of galectin family contain one or two carbohydrate recognition domains, which can bind beta-galactoside. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. 15489334,12477932,11997112 56891 NM_203471,NM_020129,AC006133,CH471126,AF123762,AF267852,AF367430,AF367431,AF367432,AI167958,BC022257,BG434228,BQ007347 NP_982297,NP_064514,EAW56912,EAW56913,AAP97241,AAF78953,AAK56284,AAK56285,AAK56286,AAH22257,Q8TCE9 Hs.24236 CLC2|MGC22235|PPL13 protein-coding 735390 LGALS2 lectin, galactoside-binding, soluble, 2 The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. 1581852,1581853,1580863 18230628,17999373,17517687,17497114,17493152,17098239,17040205,16940423,16468038,15990958,15489334,15461802,15356130,15129282,12477932,10591208,8449510,8411163,8262940,3020551,1988031,1375225 1581853 3957 NM_006498,AL022315,CH471095,M87860,BC029063,BC059782,CD701729,CR456512,CR541972,CR542000,M14079,M87842 NP_006489,CAB42834,EAW60167,AAA59512,AAH29063,AAH59782,CAG30398,CAG46770,CAG46797,AAA36171,AAA59513,P05162,Q6FGY4,Q6PIT8,CAK54542,CAK54841 Hs.531776 GDB:133721 HL14|MGC75071 lectin, galactoside-binding, soluble, 2 (galectin 2) protein-coding 736304 LGALS3 lectin, galactoside-binding, soluble, 3 1580863 9162064,14961764,18319555,18288410,18096829,18089806,18045960,18008332,17949550,17889671,17888402,17728499,17597183,17592963,17544840,17534895,17515507,17481580,17420249,17385862,17221114,17189612,17090543,17082191,17056590,16996782,16818789,16804396,16738336,16722927,16702978,16651632,16600178,16549783,16530434,16518858,16424226,16369807,16289162,16285957,16244583,16184379,16112008,16045783,15887854,15867344,15843888,15645276,15643504,15604089,15579437,15561101,15555581,15501810,15489334,15386597,15362030,15326483,15279903,15205467,15181153,14611647,14558920,12963125,12878156,12823983,12767519,12714580,12696064,12673672,12642626,12615069,12477932,12439750,12438311,12375039,12366402,12213909,12112826,11856751,11839755,11724777,11532191,11522829,11160123,10961987,10745073,10704522,10536372,10089212,9582341,9520085,9501082,9447709,9439577,9271684,8889548,8813152,8581828,8449510,8390986,8253806,8253805,8063692,8061935,7947821,7729540,7682704,7600101,7573347,2402511,2261464,2022338,2009535,1988031,1917996,16189514 3958 NM_002306,NR_003225,AB086821,AF031425,AL139316,CH471061,U10300,AB006780,AB209391,AF266280,BC001120,BC053667,BC068068,BC128253,BC128403,BQ645629,BU681070,BX161455,BX641090,CR456897,CR542097,CR592906,CR597327,CR599127,CR611593,CR614497,M35368,M36682,M57710,M64303,S59012 NP_002297,BAC45249,AAB86584,EAW80658,EAW80660,BAA22164,BAD92628,AAG44701,AAG44702,AAH01120,AAH53667,AAH68068,CAD61918,CAE46042,CAG33178,CAG46894,AAA88086,AAA36163,AAA35607,AAB26229,P17931,Q6FGL0,Q6IBA7,Q6MZI9,Q6NVH9,Q86TY5,Q8IXB9,Q9H2J5,Q9H2J6,ABM83520,ABW03507 Hs.531081 GDB:127515 CBP35|GAL3|GALBP|GALIG|LGALS2|MAC2 lectin, galactose binding, soluble 3 protein-coding 1352457 LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. 1580863 17353931,8390986,8034587,17949550,17131321,17091456,16740002,16518858,16335952,15489334,15231701,15084671,14758079,14702039,12754519,12477932,11980646,11867635,11146440,10077627,9501082,9495353,9013622,8813152,7698018,7583357,1917996,16189514,14743216 3959 AC100788,CH471099,AK055977,AK057776,BC002403,BC002998,BC015761,CR592307,CR594407,CR595010,CR603304,CR606873,CR608142,CR608444,NM_005567,CR610951,CR613600,CR619022,L13210,X79089 NP_005558,EAW89543,EAW89544,EAW89545,EAW89546,AAH02403,AAH02998,AAH15761,AAA36193,CAA55699,Q08380,ABM83150,ABM86350 Hs.514535 GDB:215703 90K|MAC-2-BP protein-coding 1351726 LGALS4 lectin, galactoside-binding, soluble, 4 (galectin 4) The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS4 is an S-type lectin that is strongly underexpressed in colorectal cancer. The 323-amino acid LGALS4 protein contains 2 homologous, approximately 150-amino acid carbohydrate recognition domains and all amino acids typically conserved in galectins. 1580863 9162064,17545668,16940423,15883199,15546874,15489334,12477932,11971864,9310382,8063692 3960 NM_006149,AC022144,AC104534,CH471126,AB006781,AF014838,AK290269,BC003661,BC005146,BC034750,BT007032,CR536544,U82953 NP_006140,EAW56819,EAW56820,BAA22165,AAC51763,BAF82958,AAH03661,AAH05146,AAH34750,AAP35679,CAG38781,AAB86590,P56470,Q6FHZ4 Hs.5302 GDB:209406 GAL4 protein-coding 1343899 LGALS5 lectin, galactoside-binding, soluble, 5 (galectin 5) 729015 729015 3961 GDB:264169 1346485 LGALS6 lectin, galactoside-binding, soluble, 6 (galectin 6) 3962 GDB:264172 1350412 LGALS7 lectin, galactoside-binding, soluble, 7 (galectin 7) The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridizations indicate that this lectin is specifically expressed in keratinocytes. It is expressed at all stages of epidermal differentiation (i.e., in basal and suprabasal layers). It is moderately repressed by retinoic acid. The protein was found mainly in stratified squamous epithelium. The antigen localized to basal keratinocytes, although it was also found, albeit at lower levels, in the suprabasal layers where it concentrated to areas of cell-to-cell contact. The cellular localization and its striking down-regulation in cultured keratinocytes imply a role in cell-cell and/or cell-matrix interactions necessary for normal growth control. Two identical gene copies are found on chromosome 19. 1580863 7534301,16788763,15489334,13679866,12523890,12477932,11706006,10500176,9760227,9697310,9305847,8889548,7729568 3963 NM_002307,AC022144,CH471126,BC061588,BC073743,BM681659,CA975981,CV575179,L07769,U06643 NP_002298,EAW56818,AAH61588,AAH73743,AAA67899,AAA86820,P47929,Q6IB87 Hs.558355 GDB:578907 GAL7|PIG1|TP53I1 protein-coding 1354427 LGALS8 lectin, galactoside-binding, soluble, 8 (galectin 8) This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. 729012,1580863 14758080,12881409,12851289,12569102,12477932,12234517,12223276,11839721,11675018,11494049,15753078,15489334,10980616,10852818,10697573,7852431,8692978,17580315,17339281,16368432,16344560,16189514 729012 3964 NM_201545,NM_006499,NM_201543,NM_201544,AF193806,AL136105,AL359921,CH471098,AB209914,AF074000,AF074001,AF074002,AF342815,AF342816,AF468213,AK098613,AU117713,AY037304,BC015818,BC016486,BI758016,BU561073,BU630272,CR593714,CR606435,CR617625,L78132,X91790 NP_963839,NP_006490,NP_963837,NP_963838,AAF19370,CAI13765,CAI13766,CAI13767,CAI13768,CAI13769,CAI13771,CAI13772,CAI13773,CAI13774,EAW70053,EAW70054,EAW70055,EAW70056,EAW70057,BAD93151,AAD45402,AAD45403,AAD45404,AAK16735,AAK16736,AAL77076,AAK69827,AAH15818,AAH16486,AAB51605,CAA62904,O00214,Q59E97,Q5T3P5,Q5T3P6,Q5T3P7,Q5T3P9,Q5T3Q0,Q5T3Q1,Q5T3Q2,Q5T3Q3,Q5T3Q4,Q8TEV1,Q96QS7,Q9BXC8,ABM87017,ABW03852 Hs.4082,Hs.708114 GDB:578913 Gal-8|PCTA-1|PCTA1|Po66-CBP protein-coding 736794 LGALS9 lectin, galactoside-binding, soluble, 9 (galectin 9) The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The protein encoded by this gene is an S-type lectin. This galectin is strongly overexpressed in Hodgkin's disease tissue and it might participate in the interaction between the H&RS cells with their surrounding cells and might thus play a role in the pathogenesis of this disease and/or its consistently associated immunodeficiency. The protein has N- and C- terminal carbohydrate-binding domains connected by a link peptide. Multiple alternatively spliced transcript variants have been found for this gene. 1580863 9045665,12761501,11823532,9642261,9373149,8125298,17353931,18050192,18005988,17907924,17596995,17449641,17446336,17167046,17156439,17069754,16286920,16116184,16012760,15837748,14758084,14702039,12714580,12646627,12477932,12421975,12223516,12115481 3965 NM_009587,NM_002308,AB040130,AC015688,AJ288083,CH471159,AB003517,AB005894,AB006782,AB008492,AK097892,AK126017,AK223232,BC034392,BC105942,BC105944,BC110340,CR597107,CR598297,CR602208,CR604285,CR608609,CR614567,CR616420,CR622120,CR626506,Z49107 NP_033665,NP_002299,BAB83623,BAB83625,BAB83624,CAB93851,EAW51037,EAW51038,EAW51039,EAW51040,EAW51041,EAW51042,EAW51043,EAW51044,EAW51045,BAF76327,BAA31542,BAA22166,BAF76328,BAD96952,AAI05943,AAI05945,AAI10341,CAA88922,O00182,Q3B8N1,Q53FQ0,Q8WYQ7 Hs.81337 GDB:6262088 ECALECTIN|HUAT|MGC117375|MGC125973|MGC125974|galectin-9 lectin, galactose binding, soluble 9 protein-coding 1352680 LGCR Langer-Giedion syndrome chromosome region 1684953 3966 GDB:120698 733103 LGI1 leucine-rich, glioma inactivated 1 This gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. 737768,1580863 9879993,18355961,17875918,17296837,16787412,16707245,16518856,15827762,15489334,15349881,15164054,15079011,15079010,15047712,15009222,12975309,12821932,12771268,12601709,12477932,12217514,12205652,12095917,11978770,11810107,7647791 737768 9211 AL157396,AL358154,CH471066,AB209408,AF055636,AF473548,AK289706,AY358885,BC022500,CR621199,CR621328,DC326684,NM_005097 NP_005088,CAH73837,CAH73838,CAI14981,CAI14982,EAW50051,EAW50052,EAW50053,BAD92645,AAC99316,AAM22074,BAF82395,AAQ89244,AAH22500,O95970,Q59FQ2,ABM83297,ABM86506 Hs.533670 GDB:9864936 EPITEMPIN|EPT|ETL1|IB1099 protein-coding 1321270 LGI2 leucine-rich repeat LGI family, member 2 16021519,15489334,14702039,12477932,12217514,12095917,12023020,11572484,9110174,8619474 55203 AL833647,BC101759,BC101761,NM_018176,AC113614,CH471069,CS083233,AB067503,AF052098,AF467955,AJ487516,AJ487958,AK001537,AK126093 AAI01760,AAI01762,Q6ZTZ2,Q8N0V4,NP_060646,EAW92828,EAW92829,EAW92830,CAI96003,BAB67809,AAM49553,CAD31784,CAD32305,BAA91746,BAC86435 Hs.12488 GDB:11506195 FLJ10675|KIAA1916|LGIL2|MGC126808|MGC126810 protein-coding 1322345 LGI3 leucine-rich repeat LGI family, member 3 15489334,14702039,12975309,12477932,12217514,12095917,12023020 203190 AF467956,AJ487518,AJ487961,AK090946,AY358116,BC036494,BC042542,BC142997,NM_139278,AC105206,CH471080 EAW63709,EAW63708,AAM49554,CAD31786,CAD32308,BAC03553,AAQ88483,AAH36494,AAH42542,AAI42998,Q49AK8,Q8N145,NP_644807 Hs.33470 GDB:11506197 LGIL4 protein-coding 1344124 LGI4 leucine-rich repeat LGI family, member 4 14505228,12975309,12477932,12217514,12095917,12023020 163175 NM_139284,AC020907,AF467954,AJ487519,AJ487959,AL832968,AY358121,BC029943,BC087848,BC136697 NP_644813,AAM49552,CAD31787,CAD32306,CAH56336,AAQ88488,AAH87848,AAI36698,Q5M8T1,Q658V8,Q8N135 Hs.65256 GDB:11506199 LGIL3 protein-coding 1344656 LGMD1A limb-girdle muscular dystrophy 1A (autosomal dominant) 9828127 3967 GDB:118832 1347179 LGMD1B limb girdle muscular dystrophy 1B (autosomal dominant) 9106535 3968 GDB:231606 1353955 LGMD1D limb girdle muscular dystrophy 1D (autosomal dominant) 9973292 9186 GDB:9955193 731860 LGMN legumain This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. 1580863 9065484,18374643,16341674,15788679,15489334,15100291,12860980,12477932,11085925,9891971,9872320,9821970,9742219,9373149,8893817,8125298 5641 NM_005606,NM_001008530,AL132987,AL136332,CH471061,AK225822,AK291534,AK291560,BC003061,BC013678,BM838821,BX161380,BX161422,BX161434,CR457406,CR590440,CR591060,CR591531,CR592073,CR592440,CR593102,CR594654,CR594932,CR595840,CR596286,CR598510,CR599951,CR600019,CR600889,CR601057,CR601667,CR602525,CR603050,CR604003,CR604896,CR607115,CR608743,CR609822,CR610007,CR610747,CR611809,CR613295,CR615884,CR616663,CR617271,CR619616,CR620498,CR620992,CR621176,CR621764,CR622402,CR624305,CR624440,CR624467,CR625416,CR625463,CR626520,D55696,Y09862 NP_005597,NP_001008530,EAW81500,EAW81501,BAF84223,BAF84249,AAH03061,AAH13678,CAD61872,CAD61895,CAD61906,CAG33687,BAA09530,CAA70989,Q53XC6,Q6I9U9,Q86TV2,Q86TV3,Q96CY7,Q99538,ABM82810,ABM85996,ABM85997,ABW03452 Hs.18069 GDB:700617 AEP|LGMN1|PRSC1 protease, cysteine, 1 (legumain) protein-coding 1346654 LGMN2P legumain 2 pseudogene 122199 NG_001534,AL359438 pseudo 1605061 LGR4 leucine-rich repeat-containing G protein-coupled receptor 4 12477932,11401528,10894923,9849958 55366 NM_018490,AC090597,AC100771,AF346711,CH471064,AB209743,AF257182,AI699025,BC033039,CB047435 NP_060960,AAK31153,EAW68285,EAW68286,BAD92980,AAF68989,AAH33039,Q59ER8,Q8N537,Q9BXB1,ABM83401,ABM86613 Hs.502176 GPR48 protein-coding 1605118 LGR5 leucine-rich repeat-containing G protein-coupled receptor 5 9642114,17934449,16575208,12601349,12477932,10935549,9849958 8549 NM_003667,AC078860,AC090116,CH471054,AF061444,AF062006,AK075399,BC096324,BC096325,BC096326,BC099650 NP_003658,EAW97258,EAW97259,AAC77911,AAC28019,AAH96324,AAH96325,AAH96326,AAH99650,O75473,Q4VAM0,Q4VAM2 Hs.658889 FEX|GPR49|GPR67|GRP49|HG38|MGC117008 protein-coding 1353750 LGR6 leucine-rich repeat-containing G protein-coupled receptor 6 This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. 1580863 16710414,15489334,14702039,12975309,12477932,12044878,10935549,8889548 59352 NM_001017403,NM_021636,NM_001017404,AB083616,AL356953,CH471067,CQ840811,AB049405,AF088074,AF190501,AK027377,AK123055,AY358119,BC038795,BC047905,BM699180 NP_001017403,NP_067649,NP_001017404,BAB89329,CAI15927,CAI15928,CAI15929,CAI15930,CAI15931,EAW91407,EAW91408,EAW91409,EAW91410,CAH05693,BAB39854,AAG17168,BAB55071,AAQ88486,AAH47905,Q9HBX8 Hs.497402 FLJ14471|GPCR|VTS20631 protein-coding 1322883 LGTN ligatin This gene encodes a protein receptor that localizes phosphoglycoproteins within endosomes and at the cell periphery. This trafficking receptor for phosphoglycoproteins may play a role in neuroplasticity by modulating cell-cell interactions, intracellular adhesion, and protein binding at membrane surfaces. In hippocampal neurons, long-lasting down-regulation of ligatin mRNA levels occurs via post-transcriptional RNA processing following glutamate receptor activation. This protein contains single PUA and SUI1 domains and these domains may function in RNA binding and translation initiation, respectively. 1580863 2482295,15302935,14702039,12477932,12097419,9373149,8125298,7299841,7085779,7085778,3805022,17353931 1939 AL591846,CH471100,AB209364,AF159586,AF220417,AF262403,AK001852,AK225259,AL162001,BC001585,BC039134,BC058905,BI465059,CR606084,CR609593,NM_006893,CR613130,CR615373,CR623821 NP_008824,CAI13533,CAI13534,CAI13535,EAW93536,EAW93537,EAW93538,EAW93539,EAW93540,BAD92601,AAD41909,AAF34185,AAF74205,BAA91942,CAB82330,AAH01585,AAH39134,AAH58905,P41214,Q59FU5,ABM82516,ABM85710 Hs.497581 GDB:3750012 HCA56 protein-coding 69097 LHB luteinizing hormone beta polypeptide This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. 1600613,1580863 10484773,6785294,18439297,17761593,17507624,16410673,16358135,16103457,15602022,15569941,14871891,14585810,12746844,12734546,12700240,12683946,12419040,12356936,12042273,11870227,11861891,11829319,10854700,10065776,9886510,9619532,9457942,8979264,8961276,8663226,7679977,7513655,6690982,4719207,4685398,3470775,2424697,1991473,1727547,1495492,1191677 1600613 3972 NM_000894,NG_000019,AC008687,AF397591,CH471177,S71273,X00264 NP_000885,AAL69719,EAW52432,AAD14960,CAA25067,P01229,Q8WXL0,AAI60107 Hs.154704 GDB:119364 CGB4|LSH-B|hLHB luteinizing hormone beta protein-coding 737217 LHCGR luteinizing hormone/choriogonadotropin receptor LHCGR encodes the receptor for both luteinizing hormone and choriogonadotropin. Mutations in this gonadotropin receptor result in disorders of male secondary sexual character development, such as familial male precocious puberty and male pseudohermaphtoditism. 1580863,1600291,2292537,2292541,2289157,2292545,2292539,1566529 7719343,9626653,10617611,18439297,18411916,18300940,18162522,17709176,17692113,17609213,17556863,17548147,17458905,17293445,17092637,17074323,17055147,17052834,17045394,17045393,16943418,16837644,16709601,16344560,16332935,16135786,15908694,15890674,15889138,15878956,15788387,15607529,15539429,15304512,15304492,15292356,15169923,15084485,15031322,15016840,14764820,14605099,14594799,14507927,12972613,12933660,12850276,12843195,12816543,12770743,12727981,12679452,12519858,12450321,12444891,12270268,12242044,12091390,12088926,12040016,11988313,11943741,11857565,10580072,10493819,10342833,10215412,9858858,9851790,9661624,9626144,9558473,9514160,9467560,9435458,9238862,9215288,8929952,8829636,8747461,8559204,8281137,7757065,7714085,7692306,7629248,7556872,3470775,2293030,2254302,2249480,2244890,1922095,1651314,11445554 1600291,2292537,2292541,2289157,2292545,2292539,1566529 3973 NM_000233,AC073082,AC087816,AF024642,AF082076,CH471053,X84753,BX101581,DA376746,M63108,M73746,S57793 NP_000224,AAY15065,AAX88979,AAB88417,AAC98291,EAX00190,EAX00191,EAX00192,CAA59234,AAA59515,AAA70231,AAB19917,P22888,Q4ZFZ4,Q53S49,AAI56304,AAI57029 Hs.468490 GDB:125260 LCGR|LGR2|LHR|hLHR protein-coding 1347444 LHFP lipoma HMGIC fusion partner This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. 10329012,16344560,15905332,15489334,15057823,12477932,9373149,8125298 10186 NM_005780,AL136358,AL138685,AL158194,CH471075,AF098807,AK129819,AK223369,AL137388,BC017824,CR592432,DA375214 NP_005771,EAX08616,EAX08617,AAD31386,BAD97089,AAH17824,Q9Y693,ABM82910,ABM86100 Hs.507798,Hs.648603 GDB:9955363 MGC22429 protein-coding 1601697 LHFPL1 lipoma HMGIC fusion partner-like 1 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. 16344560,15905332,15620218,15489334,12975309,12477932,10329012,8889549 340596 NM_178175,AC000114,AL034450,AK289946,AY217350,AY358208,BC100785,BC100786,BC100787,DA305197 NP_835469,BAF82635,AAO60107,AAQ88575,AAI00786,AAI00787,AAI00788,Q86WI0 Hs.297420 GDB:9955361 MGC118798|MGC118800|MGC118801 protein-coding 1320443 LHFPL2 lipoma HMGIC fusion partner-like 2 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. 16344560,15905332,15146197,14702039,10329012,9039502,8889548 10184 NM_005779,AC010252,AC010585,CH471084,AK091868,AK125227,AY309920,BU735939,CN314535,CR598531,CR625834,CR936660,D86961,DA094988,DB292748 NP_005770,EAW95818,EAW95819,BAC86089,AAP74733,BAA13197,Q6ZUX7 Hs.79299,Hs.670094 GDB:9785187 DKFZp781E0375|KIAA0206 protein-coding 1349891 LHFPL3 lipoma HMGIC fusion partner-like 3 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. 15905332,14702039,12690205,12477932,10329012,9847074 375612 NM_199000,AC000117,AC002432,AC007384,AC007558,AC079796,AC091286,CH236947,AK124251,AW296968,AY260763,BC129937,BC129938,BC129941 NP_945351,EAL24407,AAP14954,AAI29938,AAI29939,AAI29942,Q86UP9 Hs.659164 GDB:9955360 LHFPL4 protein-coding 1604456 LHFPL4 lipoma HMGIC fusion partner-like 4 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. 15905332,12477932 375323 NM_198560,AC018506,AC026194,CH471055,AY278320,BC029607,BC113964,CR602878 NP_940962,EAW63964,AAP37013,AAI13965,Q7Z7J7 Hs.56782 MGC133162 protein-coding 1352526 LHFPL4 lipoma HMGIC fusion partner-like 4 10329012 10182 GDB:9955358 1347478 LHFPL5 lipoma HMGIC fusion partner-like 5 This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. 16459341,15905332,12477932 222662 NM_182548,AL157823,CH471081,AK126841,BC028630 NP_872354,CAI21643,EAX03852,AAH28630,Q8TAF8,ABM82134,ABM85317 Hs.367947 DFNB67|MGC33835|TMHS|dJ510O8.8 protein-coding 1343394 LHON Leber optic neuropathy 3974 GDB:9958160 1606248 LHPP phospholysine phosphohistidine inorganic pyrophosphate phosphatase 18268499,14702039,12477932 64077 BC007324,BC073172,BC110344,BC113629,BC113631,CR605602,CR606965,CR611457,CR612778,CR621557,CR622583,NM_022126,AL391708,AL445237,AL513190,CH471066,AK055532 AAI10345,AAI13630,AAI13632,Q5T1Z0,Q9H008,NP_071409,CAH74011,CAI17295,CAI17296,CAI17297,CAH70377,CAH70378,EAW49264,EAW49265,EAW49266,EAW49267,EAW49268,EAW49269 Hs.527748 MGC117251|MGC142189|MGC142191 protein-coding 732963 LHX1 LIM homeobox 1 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of neural and lymphoid cells. A similar protein in mice is an essential regulator of the vertebrate head organizer. 1580863 9212161,7700351,18094249,16625196,15489334,12477932,12438757,11882901,9452425,8954926,12642491 3975 NM_005568,AC023315,AC025882,CH471199,BC020470,BC036856,BC101674,BC111936,BE612590,BF512551,U14755 NP_005559,EAW57574,AAH20470,AAI01675,AAI11937,AAA21644,P48742,Q58F18,ABZ92015 Hs.443727 GDB:3929545 LIM-1|LIM1|MGC126723|MGC138141 protein-coding 733849 LHX2 LIM homeobox 2 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. 1580863 15489334,14702039,12477932,10593900,10431247,10051612,9697309,8649822 9355 NM_004789,AC006450,AL158052,CH471090,AK027597,AK094511,BC034458,BC093662,BC112185,U11701 NP_004780,EAW87576,EAW87577,BAC04371,AAH93662,AAI12186,AAB08752,P50458,ABZ92216 Hs.696425 GDB:9956051 LH2|MGC138390|hLhx2 lim homeobox protein 2 protein-coding 1352685 LHX3 LIM homeobox 3 This gene encodes a member a large protein family which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene have been associated with a syndrome of combined pituitary hormone deficiency and rigid cervical spine. Two transcripts variants encoding distinct isoforms have been identified for this gene. 1580863 10598593,17327381,16613990,16394081,16179410,15567726,15517599,15271874,14714741,14646405,12642495,12477932,11882901,11470784,10903894,10835633,10818088,10788441,10717474,10593900,10431247,9452425,7665181,7626792 8022 NM_178138,NM_014564,AF096168,AF214637,AF367089,AL138781,CH471090,AF096169,AF156888,AF156889,BM799949,BU165468 NP_835258,NP_055379,AAF17291,AAF26412,AAL26314,CAI16878,CAI16879,EAW88205,EAW88206,AAF17292,AAF36808,AAF36809,Q5TB39,Q5TB40,Q9UBR4,AAI52819,AAI56736 Hs.148427 GDB:9954442 DKFZp762A2013|LIM3|M2-LHX3 protein-coding 1317585 LHX4 LIM homeobox 4 This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in control of differentiation and development of the pituitary gland. Mutations in this gene are associated with syndromic short stature and pituitary and hindbrain defects. An alternative splice variant has been described but its biological nature has not been determined. 18073311,18053794,17667940,15998782,15567726,14714741,12477932,12118377,11844481,11567216,10788441,7913017 89884 NM_033343,AF251562,AF405430,AL139141,AY817172,AY817173,AY817174,CH471067,AB037683,AB055703,AB055704,AF179849,AF282899,AY053457,BC011759 NP_203129,AAM19349,AAM91896,CAI19364,AAV67806,AAV67807,AAV67808,EAW91078,BAC01272,BAB62817,BAB62818,AAK70923,AAK69169,AAL07260,AAH11759,Q5RLJ1,Q5RLJ2,Q5RLJ3,Q8NHM1,Q969G2,Q96JP7,ABM83830,ABM87154 Hs.658487 Gsh-4|Gsh4 protein-coding 732692 LHX5 LIM homeobox 5 This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and be involved in the control of differentiation and development of the forebrain. In mice, this protein is essential for the regulation of precursor cell proliferation and the control of neuronal differentiation and migration during hippocampal development. This protein is involved in learning and motor functions in adult mice. 1580863 15489334,12782966,12477932,11566211,11137295,10325223 64211 NM_022363,AC009773,CH471054,AF291181,BC109230 NP_071758,EAW98060,AAG36963,AAI09231,Q9H2C1 Hs.302029 GDB:11504511 MGC129689 lim homeobox protein 5 protein-coding 1314642 LHX6 LIM homeobox 6 This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator and may be involved in the control of differentiation and development of neural and lymphoid cells. Two alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. 10393337,16732332,16381901,16344560,15489336,15489334,15164053,14702039,12477932,11230166,11076863 26468 NM_014368,AL162424,CH471090,AB031041,AB031042,AK126982,AK289827,AL136570,BC103936,BC103937,BC103938,DA799524,NM_199160 NP_954629,NP_055183,CAI14703,CAI14704,CAO03565,CAO03566,EAW87515,EAW87516,EAW87517,BAA83422,BAA83423,BAF82516,CAB66505,AAI03937,AAI03938,AAI03939,Q0JTC3,Q0JV85,Q9UPM6,CAL37575,CAL38240,ABZ92229,Q3SY65,Q5T7S7 Hs.103137 LHX6.1|MGC119542|MGC119544|MGC119545 protein-coding 1606630 LHX8 LIM homeobox 8 Members of the LIM homeobox gene family, such as LHX8, encode transcription regulators that share common structural features. They all contain 2 tandemly repeated cysteine-rich double-zinc finger motifs, called LIM domains, in addition to a homeodomain. The homeodomain is a DNA-binding domain, and the LIM domains are essential for regulating the activity of these molecules by interacting with other proteins. Members of the LIM homeobox gene family are required for the patterning or the specification and differentiation of different cell types during embryonic development (Zhao et al., 1999 [PubMed 10611327]).[supplied by OMIM] 17624344,16690745,16327884,14702039,12477932,10611327,9598319 431707 NM_001001933,AB050476,AC099786,AY449521,AY449522,AY449523,CH471059,AK094667,BC036423,BC040321 NP_001001933,BAB40306,AAR18074,AAR18075,EAX06405,AAH40321,Q68G74,Q6SV70,Q6SV71,Q9BYB7 Hs.403934 Lhx7 protein-coding 1354474 LHX9 LIM homeobox 9 This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. 1580863 16710414,15761153,14702039,11397841,9880598,7566098 56956 NM_001014434,NM_020204,AJ277916,AL590115,CH471067,AA316988,AJ277914,AJ277915,AJ296272,AK097614,AY273889,BC131622,CR625363 NP_001014434,NP_064589,CAB98128,CAH71760,CAH71761,CAH71762,CAH71763,CAH71764,EAW91287,EAW91288,EAW91289,EAW91290,EAW91291,EAW91292,CAB97493,CAC33174,AAP32471,AAI31623,Q5VUE2,Q5VUE6,Q86UH2,Q9NQ69 Hs.442578,Hs.706475 GDB:11508654 protein-coding 1316364 LIAS lipoic acid synthetase The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863 15489334,12477932,11389890,11124703 11019 NM_006859,NM_194451,AC021148,CH471069,AJ224162,AK026289,AK291985,AK292238,AV729111,BC023635,BC062751,CR602249,CR619197 NP_006850,NP_919433,EAW92932,EAW92933,EAW92934,CAA11859,BAF84674,BAF84927,AAH23635,AAH62751,O43766,Q6P5Q6 Hs.550502 GDB:9956171 HUSSY-01|LAS|LIP1|MGC23245 protein-coding 736774 LIF leukemia inhibitory factor (cholinergic differentiation factor) Leukaemia inhibitory factor is a cytokine that induces macrophage differentiation. Neurotransmitters and neuropeptides, well known for their role in the communication between neurons, are also capable of activating monocytes and macrophages and inducing chemotaxis in immune cells. LIF signals through different receptors and transcription factors. LIF in conjunction with BMP2 acts in synergy on primary fetal neural progenitor cells to induce astrocytes. 1580863 7957045,3143918,7867561,7508917,18317962,18298054,18047677,18042242,17979974,17966612,17848619,17702963,17671691,17652170,17332938,17054938,17000646,16949591,16759928,16648972,16545901,16489116,16295654,16263181,15731310,15670782,15543003,15489334,15342941,15341921,15180980,15044601,14715713,14687743,14647442,14557674,14527405,12807438,12764151,12707269,12601009,12579339,15905624,15837065,12574225,12477932,12218157,12153570,11855863,11811789,11587067,11448119,10591208,10205054,9920829,9847074,9593715,9349722,8489250,8058719,3143916,3128791,2730639,2491897,2475312,1714745,1692837,12089333 3976 NM_002309,AC004264,CH471095,J03261,M27053,M63420,BC069540,BC093733,BC093735,X13967 NP_002300,AAC05174,EAW59863,AAA59517,AAA53188,AAA51699,AAH69540,AAH93733,AAH93735,CAA32147,P15018 Hs.2250 GDB:120152 CDF|D-FACTOR|HILDA leukemia inhibitory factor protein-coding 1354198 LIFR leukemia inhibitory factor receptor alpha This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. 1581860,1600614,1581858,1580863 7957045,1915266,17436251,17332938,17028186,16949591,16759928,16344560,16051226,15342556,15184896,15180980,15044601,14740318,14504285,12707269,12707266,12643274,12601009,12574225,11943154,11834739,11834704,11812136,11730732,11285233,11042511,10858440,10854707,10800945,10101017,9920829,9525740,9346946,8864865,8583009,8547494,8276403,7777512,7512571,1542794,1536831,10383413,12047380 1581860,1600614,1581858 3977 NM_001127671,NM_002310,AC010457,AC091823,CH471119,AK290059,AK308158,AK309882,BP219669,BQ008945,BX648635,DA835819,DA857408,U66563,X61615 NP_002301,NP_001121143,EAW55972,BAF82748,AAB61897,CAA43805,P42702,AAI41429,AAI53097 Hs.133421 GDB:128799 CD118|FLJ98106|FLJ99923|LIF-R|SJS2|STWS|SWS leukemia inhibitory factor receptor protein-coding 731763 LIG1 ligase I, DNA, ATP-dependent LIG1 encodes DNA ligase I, with functions in DNA replication and the base excision repair process. Mutations in LIG1 that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. 1600089,1580863,1358139 8696349,9809069,9111189,10559261,18059021,17494052,17203305,17108146,17081983,16964243,16907646,16731526,15958648,15907772,15871698,15565146,15489334,15302935,14627836,12851383,12477932,12200445,12171929,12009232,11948189,10827190,10523317,9539976,9373149,8557490,8530104,8432525,8125298,7489727,2204063,2197279,1881902,1733856,1581963,1351188,934827 1600089 3978 NM_000234,NG_007395,AB103328,AC011466,AF527418,CH471177,AB208791,AK225863,BC108318,BC110622,CR599472,CR612425,CR619348,M36067 NP_000225,BAC81763,AAM77697,EAW52316,EAW52317,BAD92028,AAI08319,AAI10623,AAA59518,P18858,Q2TB12,Q59HG7,Q76GR4 Hs.1770 GDB:127274 MGC117397|MGC130025 dna ligase i protein-coding 1353192 LIG2 ligase II, DNA, ATP-dependent 3979 GDB:127275 1320452 LIG3 ligase III, DNA, ATP-dependent This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 17081983,17054425,16609022,16492928,16442856,16341674,16195237,15653642,15205355,14627836,12477932,11994275,11281714,10207110,9539976,9363683,9001252,7760816,16189514,15260972,17353931,7565692,9809069,8978692,18313385,17643379,17492771,17203305,17108146,11163244,9705932,9136882,8264637,15744309 3980 NM_013975,NM_002311,AC004223,AC022903,AF491645,CH471147,AA872458,AK125853,BC009026,BC068005,BM467239,BM759573,CR616389,U40671,X84740 NP_039269,NP_002302,AAL91592,EAW80197,EAW80198,EAW80199,BAC86321,AAH09026,AAH68005,AAA85022,CAA59230,P49916,Q6NVK3,Q6ZUA5,Q96DF0 Hs.100299 GDB:127276 protein-coding 1312194 LIG4 ligase IV, DNA, ATP-dependent The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. 1580863,1600305 15333585,15256476,15194694,15126335,15057823,14578164,12750264,12682366,12547193,12477932,12471202,12361565,12150897,12077346,12036913,12023982,11779494,11702069,11349135,10945980,10854421,10757784,10395545,9705934,9259561,7760816,17353931,10608806,17567543,8798671,9242410,12589063,12517771,9809069,12091904,16291214,18270339,18165945,17963495,17541392,17492771,17290226,17241822,17018785,16857995,16735143,16638864,16571728,16485136,16439205,16412978,16407418,16357942,15958648,15609317,15520013,15509577,15489334 1600305 3981 NM_001098268,NM_206937,NM_002312,NG_007396,AF479264,AL157762,CH471085,AI809944,AK292419,BC037491,BX648833,CD102896,CR618195,X83441 NP_001091738,NP_996820,NP_002303,AAL77435,CAH70629,EAX09094,EAX09095,EAX09096,BAF85108,AAH37491,CAA58467,P49917,ABM83400,ABM86612 Hs.166091 GDB:624512 protein-coding 1348933 LILRA1 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 1580863 9548455,15304001,15489334,12477932 11024 NM_006863,AC009892,CH471135,AF025529,AF025530,AK290919,BC032238,BC047007,BC063009,BC093708,BC101514 NP_006854,EAW72261,EAW72262,EAW72263,EAW72264,EAW72265,AAB87663,AAB87664,BAF83608,AAH93708,AAI01515,O75019 Hs.710507 GDB:9956191 CD85I|LIR-6|LIR6|MGC126563 protein-coding 1350932 LILRA2 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 Leukocyte Ig-like receptors (LIRs) are a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. All LIRs in subfamily B have an inhibitory function (see, e.g., LILRB1, MIM 604811). LIRs in subfamily A, with short cytoplasmic domains lacking an immunoreceptor tyrosine-based inhibitory motif (ITIM) and with transmembrane regions containing a charged arginine residue, may initiate stimulatory cascades. One member of subfamily A (LILRA3; MIM 604818) lacks a transmembrane region and is presumed to be a soluble receptor.[supplied by OMIM] 9548455,18273033,18056355,17998301,15489334,15242876,14662864,12529506,12477932,9373149,9079806,8977169,8125298 11027 NM_006866,AC009892,AF106253,AF106261,AF106269,AF106277,CH471135,CS173041,CU024913,CU234142,AF025531,AK130170,AK222651,BC017412,BC027916,U70665,U82275,U82276,U82277,U82278 NP_006857,AAD50364,AAD17990,AAD50365,AAD17991,EAW72257,EAW72258,EAW72259,EAW72260,CAJ33701,CAQ09343,CAQ09344,CAQ09964,AAB87665,BAD96371,AAH17412,AAH27916,AAC50928,AAC51175,AAC51176,AAC51177,AAC51178,Q8N149,Q99702 Hs.655593 GDB:11502480 CD85H|ILT1|LIR-7|LIR7 protein-coding 1354395 LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 Leukocyte Ig-like receptors (LIRs) are a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. All LIRs in subfamily B have an inhibitory function (see, e.g., LILRB1, MIM 604811). LIRs in subfamily A, with short cytoplasmic domains lacking an immunoreceptor tyrosine-based inhibitory motif (ITIM) and with transmembrane regions containing a charged arginine residue, may initiate stimulatory cascades (see LILRA1, MIM 604810). One member of subfamily A (LILRA3) lacks a transmembrane region and is presumed to be a soluble receptor (Borges et al., 1997 [PubMed 9548455]).[supplied by OMIM] 9151699,16189514,15815690,15489334,15340161,12750859,12651072,12477932,12121272,9548455,9382880,9278324,9079806 11026 U91926,U91927,NM_006865,AC010518,AF353733,AF482762,AF482763,AF482764,AF482765,AF482766,AF482767,AF482768,AF482769,CH471135,AF014923,AF014924,AF025527,BC028208 AAH28208,AAB68666,AAB68667,NP_006856,AAK58867,AAM18035,AAM18036,AAM18037,AAM18038,AAM18039,AAM18040,AAM18041,AAM18042,EAW72225,AAC51885,AAC51886,AAB87661,Q8N6C8,Q8NHJ5,ABM82001,ABM85184 Hs.113277 GDB:9956197 CD85E|HM31|HM43|ILT6|LIR-4|LIR4|e3 protein-coding 1606816 LILRA4 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 This gene encodes an immunoglobulin-like cell surface protein preferentially expressed in plasmacytoid dendritic cells (PDCs). This gene is highly expressed in PDCs, and is found to be rapidly down-regulated by interleukin 3 (IL3). This gene is one of the 19 highly related genes that form a leukocyte receptor gene cluster (LRC) at chromosomal region 19q13.4. 18048391,18006695,16777052,16735691,15094202,12529506,12477932,12384430,11491530,10941842 23547 NM_012276,AC008746,AC008984,CH471135,CU104682,CU467018,AF041261,AF283989,BC038829,BC109198,BC109199,BI834924 NP_036408,EAW72230,EAW72231,EAW72232,CAQ09392,CAP58445,AAD02203,AAL36993,AAI09199,AAI09200,P59901,Q32MC4 Hs.406708 CD85g|ILT7|MGC129597|MGC129598 protein-coding 1601693 LILRA5 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. 16675463,12393390,10941842 353514 AF499917,AF499918,AF499919,NM_021250,NM_181985,NM_181986,NM_181879,AC008984,CH471135,CS300626,CU104682,CU467018,AF212842,AF324830,AF499916 AAN27926,AAN27927,AAN27928,A6NI73,AAI48659,AAI53204,NP_067073,NP_871714,NP_871715,NP_870994,EAW72226,EAW72227,EAW72228,EAW72229,CAK32290,CAQ09388,CAQ09389,CAQ09390,CAQ09391,CAP58441,CAP58442,CAP58443,CAP58444,AAF73849,AAK52451,AAN27925 Hs.631592 CD85|CD85F|ILT11|LILRB7|LIR9 protein-coding 1603957 LILRA6 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 16344560,15489334,15057824,14702039,12477932,10941842 79168 NM_024318,AC010492,AF041262,AF344431,AF344432,AF344436,AF344441,AF344442,AF344443,AF344651,AF344652,AK124026,BC041708,DA463849,DA619934 NP_077294,AAD02204,AAQ14937,AAQ14938,AAQ14942,AAQ14947,AAQ14948,AAQ14949,AAQ14950,AAQ14951,AAH41708,Q6PI73,AAI41550,AAI56795 Hs.631592,Hs.688335 CD85b|ILT5|ILT8|LILRB3|LILRB6 protein-coding 1349645 LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. 9285411,15304001,18094328,17998301,17601702,17400057,17056715,16455647,16344560,16305801,16210603,16014635,15905516,15670976,15585844,15489334,15474475,15100307,14702039,14662864,12897781,12874224,12853576,12847262,12477932,12390682,12130517,11907092,11751964,11491530,11169396,11114384,10941837,10591185,9933109,9842885,9382880,9373149,9259559,9079806,8258145,8125298,16189514 10859 DA263280,DA953794,U82279,NM_001081638,NM_001081639,NM_001081637,AC009892,AF189277,CH471135,AF009005,AF009006,AF009007,AF009220,AF009221,NM_006669,AF283984,AF283985,AK094834,AK223310,AK292028,AK292156,BC015731 AAH15731,AAC51179,Q8NHL6,ABM83156,ABM86357,NP_006660,NP_001075107,NP_001075108,NP_001075106,AAG08984,EAW72266,EAW72267,EAW72268,EAW72269,AAC51879,AAC51880,AAC51881,AAB63521,AAB63522,AAL36988,AAL36989,BAD97030,BAF84717,BAF84845 Hs.667388 GDB:11500565 CD85|CD85J|FLJ37515|ILT2|LIR-1|LIR1|MIR-7|MIR7 protein-coding 1353018 LILRB2 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. 9382880,9079806,15304001,17998301,17923119,17420263,17400057,17056715,16455647,15670976,15489334,15301858,14662864,12853576,12477932,12390682,11875462,11491530,11169396,10190906,9842885,9548455,9531263,9373149,9259559,9151699,8125298 10288 NM_005874,NM_001080978,AC010518,CH471135,CU457734,AF000574,AF004231,AF011565,AF011566,AF025528,AF283986,AF283987,AK226015,BC025766,BC036827 NP_001074447,EAW72224,CAP19135,CAP58450,AAB88119,AAB67711,AAC51882,AAC51883,AAB87662,AAL36990,AAL36991,AAH25766,NP_005865,AAH36827,Q6PIZ7,Q8N423 Hs.655652 GDB:9955868 CD85D|ILT4|LILRA6|LIR-2|LIR2|MIR-10|MIR10 protein-coding 1316283 LILRB3 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. 9278324,9382880,17998301,16344560,15242876,12529506,12477932,10941842,9548455,9373149,9151699,9079806,8125298 11025 AF009638,AF009639,AF009640,AF009641,AF009642,AF009643,AF009644,AF025533,AF031553,AF031554,AF031555,AF031556,AF344427,AF344434,AF344435,AF344437,AK223265,AK290917,BC028153,BC104993,BC112198,CA434108,DA620532,U91928,NM_006864,AC010492,AC012314,AF256195,CU457734,AF000575,AF009632,AF009633,AF009634,AF009635,AF009636,AF009637,NM_001081450 AAC51892,AAC51893,AAC51894,AAC51895,AAC51896,AAC51897,AAC51898,AAC51899,AAB87667,AAC51900,AAC51901,AAC51902,AAC51903,AAQ14933,AAQ14940,AAQ14941,AAQ14943,BAD96985,BAF83606,AAI04994,AAI12199,AAB68668,NP_001074919,NP_006855,AAP30716,CAP19127,CAP19128,CAP19129,AAB88120,AAC51887,AAC51888,AAC51889,AAC51890,AAC51891,O75022 Hs.631592 GDB:9956193 CD85A|HL9|ILT5|LIR-3|LIR3|MGC138403|PIRB protein-coding 1347745 LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. 9151699,9548455,17998301,17993722,17923119,17513794,17266150,17161342,16493035,16433759,16406677,15670976,15489334,12477932,11875462,11491530,10941837,10940079,10781084,9973385,9862332,9422771,9278324,9079806 11006 NM_001081438,AC011515,AF072099,AF189768,CH471135,AF025532,AF283988,AK292082,BC026309,BX094825,CR542048,CR609786,U82979,U91925,NM_006847 AAB68665,Q6FGQ9,Q8NHJ6,ABM83015,ABM86208,NP_006838,NP_001074907,AAC99761,AAG02024,EAW72270,EAW72271,EAW72272,AAB87666,AAL36992,BAF84771,AAH26309,CAG46845,AAC51355 Hs.67846 GDB:9956119 CD85K|HM18|ILT3|LILRB5|LIR-5|LIR5 protein-coding 1351276 LILRB5 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 9548455,17998301,16335952,15489334,14702039,12477932,9373149,8125298 10990 CU457734,AF025534,AK057072,AK090399,AK092867,AK096122,AK223296,AK290845,BC025704,CA433575,NM_001081443,NM_001081442,NM_006840,AC010492,CH471135,CU104682 ABM85028,CAQ09379,CAQ09380,CAP19131,CAP19132,CAP19133,CAQ06862,AAB87668,BAB71361,BAC03380,BAD97016,BAF83534,AAH25704,O75023,Q8NF80,CAQ09378,NP_001074912,NP_001074911,NP_006831,EAW72218,EAW72219,EAW72220,EAW72221,EAW72222,CAQ09377 Hs.655338 GDB:9958688 CD85C|LIR-8|LIR8 protein-coding 1603958 LILRP1 leukocyte immunoglobulin-like receptor pseudogene 1 10941842,9862332 79167 NG_002681,AC011515,AF072102 CD85l|ILT9|LILRA6P pseudo 1601849 LILRP2 leukocyte immunoglobulin-like receptor pseudogene 2 10941842,9862332 79166 NR_003061,AC006293,AF072100,AF072101,BC131616 AAC99762,AAI31617 Hs.202680 CD85m|ILT10|LILRA5 pseudo 1342579 LIM2 lens intrinsic membrane protein 2, 19kDa The mammalian lens fiber cell membrane contains 5 major proteins ranging from 70 kD to 19 kD in size. The specific function of these proteins is unknown. Some of them have been shown to be involved in the formation of cataracts, e.g., crystalline-gamma-1 (CRYG1; MIM 123660). The second most abundant intrinsic membrane protein of the lens fiber cell is MP19, so named for major lens protein having a molecular weight of 19.5 kD. This protein appears to contain 4 transmembrane domains, is a substrate for cAMP-dependent protein kinase and protein kinase C, and binds with calmodulin. Taken together, these suggest that MP19 functions in some way as a junctional component, possibly involved with lens cell communication. It has been shown to be involved with cataractogenesis.[supplied by OMIM] 1600309,1580863 2584203,12477932,12107413,12107412,11917274,11532191,8666393,8197479,8137630,1606837 3982 NM_030657,CH471135,L04193,AF340019,AF340020,AC008750,AF305941,BC069430,BC074916,BC074917,BC126139 NP_085915,AAG32328,EAW72010,EAW72011,AAK26327,AAK26328,AAH69430,AAH74916,AAH74917,AAI26140,P55344,Q6B083 Hs.162754 GDB:132678 MP17|MP19 protein-coding 1602328 LIMA1 LIM domain and actin binding 1 EPLIN is a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles (Maul et al., 2003 [PubMed 12566430]).[supplied by OMIM] 11256614,10618726,18093941,17081983,16565220,16344560,16083285,15592455,15498874,15489334,15342556,15324660,15302935,14702039,12477932,11230166,10931946,10806352,9373149,8125298,12566430 51474 NM_016357,NM_001113546,NM_001113547,AC008147,AC139016,CH471111,AA772616,AB209512,AF157325,AF198454,AF198455,AF218025,AK000057,AK000335,AK000372,AK023649,AK096172,AK222971,AL136911,BC001247,BC010664,BC110815,BC136763,BP216703,BP281423,CR613639,CR622764,DA738195 NP_057441,NP_001107018,NP_001107019,EAW58134,EAW58135,EAW58136,BAD92749,AAF67491,AAF23755,AAF23756,AAG17267,BAA90914,BAA91092,BAA91120,BAB14625,BAD96691,CAB66845,AAH01247,AAH10664,AAI10816,AAI36764,Q53GG0,Q59FE8,Q9UHB6 Hs.525419 EPLIN|FLJ38853|MGC131726|SREBP3 protein-coding 1604823 LIMCH1 LIM and calponin homology domains 1 16381901,16344560,15489336,15302935,12477932,11256614,11230166,11076863,10470851,9847074 22998 NM_001112717,NM_001112718,NM_001112719,NM_001112720,AC095043,AC105389,AC108050,AC121159,AC124009,CH471069,AB029025,AK026815,AK027231,AL831962,BC023546,BC029735,BC053639,BC068200,NM_014988,CR933645,CR936601,CR936610,CR936658,CR936661,CR936664,DA786971,BC095394,BX537916,BX640692,CR624144,CR749205 NP_055803,NP_001106188,NP_001106189,NP_001106190,NP_001106191,EAW92984,EAW92985,EAW92986,EAW92987,EAW92988,BAA83054,CAD38604,AAH23546,AAH29735,CAI45946,CAI56749,CAI56754,Q0JU52,Q0JVI1,Q6N054,Q6NVB9,Q9UPQ0,CAL37479,CAH18063,CAL37959,AAH68200,AAH95394,CAD97899,CAE45816 Hs.335163 DKFZp434I0312|DKFZp686A01247|DKFZp686B2470|DKFZp686G18243|DKFZp686G2094|DKFZp781C1754|DKFZp781I1455|LIMCH1A|LMO7B|MGC72127 protein-coding 1320381 LIMD1 LIM domains containing 1 1580863 10647888,17889706,15870274,15542589,15489334,15231748,15144186,14702039,12477932,11352561,11158571 8994 NM_014240,AC098476,AC099539,AJ297357,AJ312686,CH471055,AJ132408,AK021508,BC027712,BC117236,BC117238,BU428864,M80651 NP_055055,CAB95944,CAC35917,EAW64742,CAB63652,AAI17237,AAI17239,Q9UGP4 Hs.621057,Hs.706972 GDB:9958047 protein-coding 1603297 LIMD2 LIM domain containing 2 15489334,15203218,14702039,12477932 80774 NM_030576,AC046185,CH471109,AA251318,AK092301,AY037154,BC004400,BC025738,BC051812,CB148563,CD632650,CR600276,CR606738,CR613418,CR624112 NP_085053,EAW94291,EAW94292,EAW94293,EAW94294,EAW94295,EAW94296,BAC03855,AAK67634,AAH04400,AAH51812,Q9BT23 Hs.591166 MGC10986 protein-coding 1603039 LIME1 Lck interacting transmembrane adaptor 1 LIME1 is a raft-associated transmembrane adaptor phosphoprotein that is preferentially expressed in hemopoietic cells, particularly T cells (Brdickova et al., 2003 [PubMed 14610046]; Hur et al., 2003 [PubMed 14610044]).[supplied by OMIM] 11780052,16249387,16160011,15498874,15489334,15342556,14702039,14610046,14610044,12477932 54923 NM_017806,AL121845,CH471077,AI763397,AK000413,AK054722,AY203957,BC017016,BP368475,CR616647 NP_060276,CAC03671,CAI21882,EAW75213,EAW75214,EAW75215,EAW75216,EAW75217,EAW75218,EAW75219,BAA91148,AAP34480,AAH17016,Q8WUV4,Q9H400 Hs.233220 FLJ20406|LIME|LP8067|RP4-583P15.5|dJ583P15.4 protein-coding 732406 LIMK1 LIM domain kinase 1 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is likely to be a component of an intracellular signaling pathway and may be involved in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. 12361576,15220930,16837009,8537403,10436159,10428028,8689688,18096821,18079118,18028908,18000399,17512523,17294230,17287949,16763828,16611674,16456544,16455074,16381000,16204183,16192283,15897190,15660133,15189451,15023529,14702039,14530263,12963706,12919678,12853948,12821664,12777619,12684437,12323073,11925442,11418599,11413130,11340065,11003705,10652353,10559936,10431247,10196227,9685409,9655398,8980133,8824278,8812460,8673124,8183554 3984 NM_002314,AC005056,AC005057,CH471200,U62293,U63721,AB209557,AF134379,AK026544,AK125156,AK290162,D26309 NP_002305,AAS07436,AAS07437,AAS07438,EAW69620,EAW69621,EAW69622,EAW69623,AAB17545,AAB17546,AAC13885,AAC13886,BAD92794,AAD25742,BAF82851,BAA05371,P53667,Q59FA3,Q75MU0,Q75MU4,AAI48341,AAI52983 Hs.647035 GDB:364125 LIMK lim motif-containing protein kinase 1 protein-coding 733238 LIMK2 LIM domain kinase 2 There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. The protein encoded by this gene is phosphorylated and activated by ROCK, a downstream effector of Rho, and the encoded protein, in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. It is thought that this pathway contributes to Rho-induced reorganization of the actin cytoskeleton. At least three transcript variants encoding different isoforms have been found for this gene. 1580863,1300048 8537403,8954941,18000399,17294230,16820362,16505165,16455074,16381901,15923181,15647284,15489336,15461802,15231748,14702039,12477932,11418599,11340065,11230166,11171090,11076863,11018042,10613909,10591208,10452946,9655398,8980133,15660133 3985 NM_005569,NM_016733,NM_001031801,AB016655,AB016656,AC002073,CH471095,AK093554,AK291640,AL117466,BC013051,BU553494,BX385507,CR456513,CR625165,D45906,D85527 NP_005560,NP_057952,NP_001026971,BAA36742,AAB54055,AAB54056,EAW59954,EAW59955,EAW59956,EAW59957,EAW59958,EAW59959,BAF84329,CAB55941,AAH13051,CAG30399,BAA08312,BAA12827,P53671,Q0JU43,Q7L3H5,Q7LGD2,Q9UFU0,CAL37968,CAK54543,CAK54842 Hs.474596 GDB:6276657 lim motif-containing protein kinase 2 protein-coding 1350726 LIMM lethal infantile mitochonrial myopathy 3986 GDB:9958161 1313937 LIMS1 LIM and senescent cell antigen-like domains 1 The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. 1580863 7517666,18187956,18063582,17656471,16273248,16189514,15941716,15878342,15815621,15761153,15565145,15489334,14702039,14551191,12794636,12665801,12528177,12477932,12432066,11331308,11078733,10508479,10022929,9843575,17353931 3987 CR591172,CR596109,CR619443,U09284,AC010095,AC012487,CH471182,AF527759,AF527760,AF527761,AF527762,AF527763,AK025661,AK098109,AL110164,BC005341,BC015843,BC022365,NM_004987 AAA20086,P48059,ABZ92388,NP_004978,AAY14983,EAW53877,EAW53878,EAW53879,EAW53880,AAH05341 Hs.597715,Hs.613268,Hs.655316 GDB:9798364 PINCH|PINCH1 protein-coding 1313204 LIMS2 LIM and senescent cell antigen-like domains 2 LIMS2 is a focal adhesion protein that associates with integrin-linked kinase (ILK; MIM 602366), a multidomain protein that mediates multiple protein-protein interactions at adhesion sites between cells and the extracellular matrix (ECM).[supplied by OMIM] 1580863 16959213,15489334,14702039,12477932,12167643,16189514 55679 BC001370,BC008977,BC065816,CR592921,CR598773,CR610908,CR613400,CR620349,CR620493,CR620664,CR621396,CR626426,AK095790,AK123014,AL512716,AF484961,NM_017980,AC010976,AC074114,CH471103,AF520987,AF527764,AF527765,AF527766,AF527767,AF527768,AF527769,AF527770,AK000906,AK022470,AK055363,AK091652,AK093692,AK094954 Q7Z4I4,Q7Z4I5,Q7Z4I7,Q9BV95,Q9H058,Q9NWG2,AAH01370,AAH08977,AAH65816,Q53RZ1,Q7Z4I2,Q7Z4I3,CAC21657,EAW95333,EAW95334,EAW95335,EAW95336,NP_060450,AAX93074,EAW95327,EAW95328,EAW95329,EAW95330,EAW95331,EAW95332,AAM97589,AAM77350,AAQ09011,AAQ09012,AAQ09013,AAQ09014,AAQ09015,AAQ09016,AAQ09017,BAA91419,BAB14047 Hs.469881 GDB:11508828 FLJ10044|PINCH-2 protein-coding 1350402 LIMS3 LIM and senescent cell antigen-like domains 3 1580863 15815621,15489334,12477932 96626 NM_033514,AC013271,AC108938,AF288404,BC054477,BC093812,BC094740,BC112233 NP_277049,AAY14903,AAY24131,AAF99328,AAH93812,AAI12234,Q9HB10 Hs.535619 MGC138438 protein-coding 1316876 LIN28 lin-28 homolog (C. elegans) 1580863 16710414,16227573,15722555,15614775,15489334,15003116,14702039,14688391,12798299,12477932 79727 NM_024674,AL513365,CH471059,AF521099,AK022519,BC028566 NP_078950,AAH28566,Q9H9Z2,ABM84324,ABM87718,CAI21500,EAX07814,EAX07815,AAM77751,BAB14075 Hs.86154 CSDD1|FLJ12457|LIN-28|LIN28A|ZCCHC1 protein-coding 1604919 LIN28B lin-28 homolog B (C. elegans) 16971064,14702039,12477932 389421 NM_001004317,AL135911,CH471051,AK131411,BC127712,BC127713,BC137526,BC141959,BC141960,BC150537,BC150538,CR594880,DQ127228 NP_001004317,CAI20969,EAW48433,EAW48434,BAD18558,AAI27713,AAI27714,AAI37527,AAI41961,AAI50538,AAI50539,AAZ38897,Q6ZN17 Hs.23616 CSDD2|FLJ16517 protein-coding 1603391 LIN37 lin-37 homolog (C. elegans) This gene encodes a protein expressed in the eye. 16189514,15489334,15057824,12477932,15479636 55957 NM_019104,AC002398,AD000671,AF162447,AK293116,BC009071,BI767008,CR612042 NP_061977,AAB81199,AAQ13584,BAF85805,AAH09071,Q96GY3 Hs.529100 F25965|MGC9505|ZK418.4|lin-37 protein-coding 1315617 LIN52 lin-52 homolog (C. elegans) 17081983,17075059,15489334,14702039,12477932 91750 NM_001024674,AC005484,AC006349,CH471061,AK023979,AK055422,BC009539,BC094003,BC094005,CR593198,CR597277 NP_001019845,EAW81161,AAH94003,AAH94005,Q52LA3 Hs.612866 C14orf46|c14_5549 chromosome 14 open reading frame 46 protein-coding 1606970 LIN54 lin-54 homolog (C. elegans) 12477932,15479636 132660 NM_194282,NM_001115007,NM_001115008,AC021105,CH471057,AB111889,AK292769,BC109277,BC109278,BX537919,BX640657,BX640966,CX871759 NP_919258,NP_001108479,NP_001108480,EAX05917,EAX05918,EAX05919,EAX05920,BAC98377,BAF85458,AAI09278,AAI09279,CAD97902,CAE45799,CAE45981,Q32M68,Q32M69,Q6MZP7,Q6N071,Q76B60,Q7Z3G2 Hs.96952 CXCDC1|DKFZp686L1814|JC8.6|MGC129905|MIP120 protein-coding 731642 LIN7A lin-7 homolog A (C. elegans) 1580863 11311936,9753324,9482110,17237226,16192278,15494546,15024025,14960569,14596909,12477932,12110687,10753959,10341223,10228153,9952408,9822620 8825 NM_004664,AC025568,AC068798,AC078886,CH471054,AF028826,AF087693,AF173081,BC046926,BC062332,BC099921,BC118609,BC122561,CR407680 NP_004655,EAW97370,EAW97371,AAB84251,AAC78481,AAD48500,AAH99921,AAI18610,AAI22562,CAG28608,O14910 Hs.144333 GDB:9957327 LIN-7A|LIN7|MALS-1|MGC148143|TIP-33|VELI1 lin-7-ba protein-coding 734321 LIN7B lin-7 homolog B (C. elegans) 1580863 16192269,16979770,16473877,16192277,15317815,15024025,14960569,14596909,12975309,12477932,12151522,11742811,10341223,9753324 64130 NM_022165,AC008687,CH471177,AF311862,AY358744,BC027618 NP_071448,EAW52454,EAW52455,AAG34117,AAQ89104,AAH27618,Q9HAP6 Hs.221737 GDB:11510560 LIN-7B|MALS-2|VELI2 lin-7-a protein-coding 735828 LIN7C lin-7 homolog C (C. elegans) 1580863 18286632,17942893,17237226,16192275,16147993,15024025,14960569,14702039,14596909,12477932,12006486,10341223,9373149,8125298 55327 NM_018362,AC100771,CH471064,AF090900,AK002077,AK025540,AK223156,AL833601,BC009774,BC039459,BC053907,CR600278 NP_060832,EAW68282,EAW68283,AAF24024,BAA92072,BAD96876,AAH53907,Q53FX5,Q9NUP9,Q9UI80 Hs.91393,Hs.693840 GDB:11510562 FLJ11215|LIN-7-C|LIN-7C|MALS-3|VELI3 lin-7-c protein-coding 1348970 LIN9 lin-9 homolog (C. elegans) 17563750,17159899,17098733,17081983,16730350,15538385,15489334,14702039,12477932,15479636 286826 NM_173083,AL359742,BX284931,CH471098,AF190323,AF190324,AK125690,AK126177,AY166858,AY166859,AY786184,BC043444,BC045625,BC065302,BX537869 NP_775106,EAW69780,EAW69781,EAW69782,AAQ13710,AAQ13711,BAC86475,AAN87840,AAN87841,AAV41873,AAH43444,AAH45625,AAH65302,CAD97871,Q5RI86,Q5RI87,Q5T3X8,Q5TKA1,Q6P142,Q8IWQ1,Q8IWQ2 Hs.120817 BARA|BARPsv|Lin-9|TGS|TGS1 protein-coding 1605013 LINCR likely ortholog of mouse lung-inducible Neutralized-related C3HC4 RING domain protein 15936721,12477932 93082 NM_001080535,AC013270,AC021188,AL389981,BC012317 NP_001074004,AAH12317,Q96EH8 Hs.149219 protein-coding 1318574 LINGO1 leucine rich repeat and Ig domain containing 1 17726113,17239012,17005555,16189514,14966521,14702039,14686891,12975309,12477932,15694322 84894 NM_032808,AC046168,CH471136,AK027500,AK291363,AL109677,AL834260,AY324320,AY324322,AY324323,AY358284,BC011057,BC068558,CR603375,CR603492,H11343 NP_116197,EAW99195,EAW99196,EAW99197,EAW99198,BAB55157,BAF84052,CAD38935,AAQ97216,AAQ97217,AAQ97218,AAQ88651,AAH11057,AAH68558 Hs.656765 FLJ14594|LERN1|LRRN6A|MGC17422|UNQ201 leucine rich repeat neuronal 6a protein-coding 1344562 LINGO2 leucine rich repeat and Ig domain containing 2 14702039,14686891,12975309 158038 NM_152570,AL353683,AL353746,AL445526,AL450428,AL451124,AL592206,AL596323,CH471071,CS161398,AK056372,AK172834,AK290972,AY358114,BC137514 NP_689783,EAW58557,CAJ30882,BAB71167,Q7L985,Q9BZ20,BAD18799,BAF83661,AAQ88481,AAI37515 Hs.709680 FLJ31810|LERN3|LRRN6C leucine rich repeat neuronal 6c protein-coding 1606911 LINGO4 leucine rich repeat and Ig domain containing 4 12975309 339398 NM_001004432,AL589765,AY358115,BC137220,BC137221 NP_001004432,CAI17178,AAQ88482,AAI37221,AAI37222,Q6UY18 Hs.591477 DAAT9248|LRRN6D|PRO34002 protein-coding 1602699 LINS1 lines homolog 1 (Drosophila) The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Multiple transcript variants encoding the same protein have been found for this gene. 16344560,14702039,12477932,12119551,8889548 55180 NM_018148,NM_001040616,NM_001040614,AC027020,AC090695,CH471101,AB083157,AK001445,AK093868,AK095448,AK292972,BC010363,NM_001040615,CR624489,DA674923,DA705707,DA958361,BI910880,BM723636,CR609634 NP_001035705,NP_060618,NP_001035706,NP_001035704,EAX02270,EAX02271,EAX02272,EAX02273,BAB93864,BAA91696,BAF85661,AAH10363,Q8NG48 Hs.105633 FLJ10583|WINS1 protein-coding 736562 LIPA lipase A, lysosomal acid, cholesterol esterase (Wolman disease) This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 1600620,1600621,1300048,1580863 1718995,16806233,16730122,16344560,16131527,16024911,16013913,15489334,15465627,15164054,14702039,12477932,12162818,9705237,9633819,9373149,8956047,8725147,8432549,8254026,8146180,8125298,8112342,7759067 1600620,1600621 3988 NM_000235,NM_001127605,AL353146,AL353751,AL513533,CH471066,U04285,AK091558,AK096406,AK125193,AK130882,AK222760,AK290241,AK314665,AU135835,BC012287,CA435432,CR592516,DA275550,M74775,S68069,U08464,X76488,Z31690 NP_000226,NP_001121077,CAI12380,CAI12234,CAI12235,CAI12236,CAI12237,CAI13515,CAI13516,CAI13517,EAW50140,EAW50141,EAW50142,AAB60327,BAC86078,BAD96480,BAF82930,BAG37222,AAH12287,AAA59519,AAB29185,AAB60328,CAA54026,CAA83495,P38571,Q5T073,Q5T770,Q6ZUY8 Hs.643030 GDB:120153 CESD|LAL protein-coding 1345320 LIPB lipase B, lysosomal acid 6937431 3989 GDB:119365 736877 LIPC lipase, hepatic LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. 1580512,1580513,1600654,1600644,1600664,1600663,1331525,1300048,1580863 2447084,18468200,18413186,18364377,18354102,18275964,18249219,18193043,18164013,18160998,18059528,18001531,17919884,17855807,17700364,17568951,17537154,17440012,17428321,17406067,17399967,17390085,17342071,17327141,17318300,17234195,17175070,17157861,17137217,17080261,16928730,16879193,16822236,16793047,16770077,16603721,16570154,16554020,16542392,16449872,16427731,16419358,16343038,16338252,16330034,16324926,16316842,16205020,16164573,16153627,17222414,16141008,16122151,16115483,16077949,16039291,16038892,16030523,16005462,15983323,15983229,15979432,15961789,15949705,15941898,15855254,15821100,15817871,15755868,15721010,15657615,15656877,15608561,15379569,15304509,15292318,15292235,15205216,15156410,15135253,15135251,15126514,15099346,14985399,14679168,14657196,14650352,14630921,14615390,14608050,14585761,14564687,14557872,14531818,12966036,12964943,12883629,12860265,12818414,12798568,12777476,12777470,12700335,12691171,12689525,12642787,12547874,12544508,12514935,12477932,12417924,12403660,12364543,12364471,12354428,14967812,14709367,12235167,12116231,12082592,12006918,11971936,11968086,11947893,11916946,11533368,11512679,11454011,11427226,11427182,11322655,11181756,11171287,10660332,10391209,9685400,9645503,8865180,8865179,7721852,3692485,2839510,2828141,2605236,2324091,1883393,1671786,1301939 1580512,1580513,1600654,1600644,1600664,1600663,1331525 3990 NM_000236,AC018904,AC084781,AF037404,CH471082,D83062,M29194,M35433,AK290062,AK292631,BC132825,BC146659,CR590311,CR596048,CR612434,CR619207,D83548,J03540,J03895,X07228 NP_000227,AAC34206,EAW77536,BAA11760,AAB60702,AAA59521,BAF82751,BAF85320,AAI32826,AAI46660,BAA12014,AAA59520,AAA61165,CAA30188,P11150 Hs.654472 GDB:119366 HDLCQ12|HL|HTGL|LIPH protein-coding 737132 LIPE lipase, hormone-sensitive The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. 1625026,1581867,1580863,1300048 16243839,15871848,15697220,15654127,15627655,15609025,15489334,15456755,15345679,15308678,15260473,15231718,14984467,14745722,14641008,12970365,12925534,12864745,12832420,12765952,12730334,12727985,12701046,12562895,12534454,12518034,12514936,12477932,12364542,11979403,11850754,11846402,11812735,11791141,11731226,11714847,11581251,11574428,17026959,3420405,18249203,17587400,17356053,17327373,17318300,17074755,16940551,16906479,16822962,16752181,16690773,16534522,16328496,11063252,11026666,10694408,10445032,10318917,9417067,8812477,8506334,7698015 1625026,1581867 3991 NM_005357,AC011497,CH471126,DQ188033,L11706,AK292482,BC029301,BC029961,BC070041,CR592561,U40002 NP_005348,EAW57135,ABA03168,AAA69810,BAF85171,AAH70041,AAC50666,Q05469 Hs.656980 GDB:120154 HSL|LHS lipase, hormone sensitive protein-coding 1343616 LIPF lipase, gastric This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. 1580863 2753032,3304425,16344560,16341674,15489334,12941646,12477932,11940604,11241664,11099794,10700046,10411623,10358049,10208872,10092305,9468252,9373149,9323599,9186906,8359655,8125298,8049245,3181673 8513 A12714,AL358532,AY631869,CH471066,AK223468,AL833751,NM_004190,BC112272,BC113711,BM797485,DA967766,X05997,A01046 NP_004181,CAA01053,CAH71056,CAH71057,AAT38115,EAW50161,EAW50162,EAW50163,BAD97188,CAH56244,AAI12273,AAI13712,CAA29413,CAA29414,P07098,Q53F21,Q5VXI7,Q5VXI8,Q658L8,CAA00125 Hs.523130 GDB:9958711 GL|HGL|HLAL|MGC138477|MGC142271 protein-coding 1321819 LIPG lipase, endothelial The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. 1580864,1580865,1581874,1581875,1580863,1641818,1601237,1641819 10318835,15231747,18193043,18039650,17986713,17700364,17651673,17644777,17570372,17545692,17526978,17495604,17356047,17322565,17016617,16980590,16940551,16877778,16335952,16039280,16023652,15961789,15576837,15485805,15342690,15117821,14667806,14517167,12975309,12966036,12867537,12601178,12569156,12477932,12164779,12032167,10192396,14499622,12884003 1580864,1580865,1581874,1581875,1641818,1601237,1641819 9388 NM_006033,AC091170,CH471096,AF118767,AI861822,AK124636,AK125344,AK291799,AY358928,BC060825,CR610175 NP_006024,EAW62947,EAW62948,EAW62949,AAD30434,BAC86139,BAF84488,AAQ89287,AAH60825,Q6ZUS9,Q9Y5X9 Hs.465102 GDB:9956170 EDL|EL|PRO719 protein-coding 1320902 LIPH lipase, member H This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. 1580863 17333281,17095700,15520410,15489334,14702039,12963729,12719377,12477932,12213196,12063250 200879 NM_139248,AC099661,CH471052,AK074229,AK122651,AY036912,AY093498,BC064941,BI965988,EF186228,EF186229 NP_640341,EAW78218,BAB85023,AAK63178,AAM18803,AAH64941,ABM67094,ABM67095,Q8WWY8 Hs.68864 GDB:11510564 AH|LPDLR|PLA1B|mPA-PLA1 protein-coding 1605865 LIPI lipase, member I 1625450 15548687,12963729,12719377,10830953 1625450 149998 NM_198996,AC006556,AF130358,AL078615,AL160451,AP001347,AP001660,AY197607,AY918476 NP_945347,AAP37476,AAX14040,Q5D1Q2,Q6XZB0,AAI40337,AAI48692 Hs.139907 GDB:11508413 LPDL|PRED5 protein-coding 1603579 LIPJ lipase, family member J 12477932 142910 AL139406,NM_001010939,CH471066,BC031219,BC042900 NP_001010939,CAH73713,EAW50165,EAW50166,AAH31219,AAH42900,Q49A84,Q5W064 Hs.440959 FLJ11218|LIPL1|bA425M17.2 protein-coding 1320217 LIPK lipase, family member K 17562024 643414 XM_926746,XM_937207,NM_001080518,AL358532,EF426482 XP_931839,XP_942300,NP_001073987,CAH71058,ABR08387,Q5VXJ0,AAI52925 Hs.632092 LIPL2|bA186O14.2 protein-coding 1312623 LIPM lipase, family member M 17562024 340654 XM_291663,XM_937219,XM_001720542,AL353113,AL358532,BC157888,EF426484 XP_291663,XP_942312,XP_001720594,CAH72238,CAO77925,AAI57889,ABR08389,Q5VYY2 Hs.55118 LIPL3|bA304I5.1 lipase-like, ab-hydrolase domain containing 3 protein-coding 1349924 LIPN lipase, family member N 17562024 643418 XM_926751,XM_937212,NM_001102469,AL358532,EF426483 XP_931844,XP_942305,NP_001095939,CAH71060,ABR08388,Q5VXI9 Hs.632091 LIPL4|bA186O14.3 protein-coding 1321082 LIPT1 lipoyltransferase 1 The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing in the 5' UTR of this gene results in five transcript variants that encode the same protein. 10103005,15489334,12477932,9405389,8206978 51601 NM_145196,NM_145197,NM_145198,NM_015929,NM_145199,AB017567,AC092587,CH471127,AA811675,AB017566,BC007001,BC009772,BC070145,BQ422048 NP_660197,NP_660198,NP_660199,NP_057013,NP_660200,BAA76368,AAX88927,EAX01877,BAA76367,AAH07001,AAH09772,AAH70145,Q4ZFZ1,Q9Y234 Hs.516235 MGC12290|MGC13378 protein-coding 735583 LITAF lipopolysaccharide-induced TNF factor 1580863 10200294,15064722,12761501,16912585,16872372,16804395,16787513,16373087,15793005,15786462,15776429,15489334,15197774,15122712,14702039,14641644,12525712,12477932,11713717,11274176,9305847,11042109 9516 NM_004862,AC007616,AC099489,CH471112,AB034747,AF010312,AK095955,AK130788,BC000053,BC008309,BC016491,BC039840,BC046154,BC065293,BC096063,BC096064,BC096065,BC096066,BC101401,BC101402,BC101969,BX537543,CR605952,CR610758,CR612710,CR612810,CR623629,U77396 NP_004853,EAW85148,EAW85149,EAW85150,EAW85151,EAW85152,EAW85153,BAB32547,AAC39530,AAH00053,AAH08309,AAH16491,AAH39840,AAH46154,AAH96063,AAH96065,AAH96066,AAI01402,AAI01403,AAI01970,CAD97778,AAB36550,Q99732,ABZ92218 Hs.459940 CMT1C|FLJ38636|MGC116698|MGC116700|MGC116701|MGC125274|MGC125275|MGC125276|PIG7|SIMPLE|TP53I7 lps-induced tnf-alpha factor protein-coding 1343566 LIX1 Lix1 homolog (chicken) 15489334,14702039,12638132,12477932,11731258 167410 NM_153234,AC008865,CH471084,AK098400,AK291034,BC036467 NP_694966,EAW96086,EAW96087,BAC05298,BAF83723,AAH36467,Q8N485 Hs.656702 GDB:11505384 C5orf11|FLJ25534 protein-coding 1350339 LIX1L Lix1 homolog (mouse)-like 737633 15489334,12477932 737633 128077 NM_153713,AL160282,CH471244,AK123675,AK128733,BC035727,CR627381 NP_714924,EAW71416,EAW71417,AAH35727,CAH10478,Q8IVB5 Hs.632435 DKFZp762F237|MGC46719 protein-coding 733152 LLGL1 lethal giant larvae homolog 1 (Drosophila) This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580863 7542763,18074678,17369850,16170365,15735678,15489334,15467749,12725730,12477932,11997338,11714708,9177775,8565641 3996 NM_004140,AC109515,AC127537,CH471196,BC028037,BC028214,BC051466,BC151838,BQ923585,BQ937224,D50550,X86371 NP_004131,EAW55657,EAW55658,EAW55659,EAW55660,AAH28037,AAH28214,AAH51466,AAI51839,BAA19516,CAA60130,Q15334 Hs.513983 GDB:636224 DLG4|HUGL|HUGL-1|HUGL1|LLGL protein-coding 1353110 LLGL2 lethal giant larvae homolog 2 (Drosophila) The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. 18199550,15632202,15489334,14702039,12725730,12477932 3993 NM_001031803,NM_004524,NM_001015002,AC100787,CH471099,AK025401,AK125563,AK126687,BC006503,BC010879,BC031842,BC064994,BC067840,CR590521,X87342 NP_001026973,NP_004515,NP_001015002,EAW89280,EAW89281,EAW89282,EAW89283,AAH06503,AAH10879,AAH31842,AAH64994,CAA60780,Q6P1M3 Hs.514477 GDB:5772851 HGL|LGL2 protein-coding 1349298 LLP lactation, late, protein (macropodids) 3997 GDB:125863 732234 LMAN1 lectin, mannose-binding, 1 The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. 1600100,1580863 7876089,9546392,18025080,17535801,17496053,17010120,16938437,16735443,16670774,16257008,16114131,16054885,16044454,15886209,15728497,15716605,15632110,15489334,15308636,15292203,15166951,15145932,15117939,14732744,14629470,14593599,12727195,12717434,12672193,12665801,12477932,12175909,11992290,11840567,11607788,11561111,11333866,10090935,9373149,9245995,8854877,8223692,8205612,8125298,12560567,12487819,10725420,8666845,8267903,15572157,12941144 1600100 3998 NM_005570,AC016229,AF081866,AF081867,AF081869,AF081871,AF081873,AF081875,AF081877,AF081879,AF081880,AF081882,AF081884,AF081885,CH471096,AK223208,AK225108,AK225111,BC008401,BC017858,BC032330,CR592087,CR600055,CR609154,CR618370,CR625542,U09716,X71661 NP_005561,AAD32479,AAD32480,AAD32481,AAD32482,AAD32483,AAD32484,AAD32485,AAD32486,AAD32487,AAD32488,AAD32489,AAD32490,EAW63096,EAW63097,EAW63098,BAD96928,AAH17858,AAH32330,AAA95960,CAA50653,P49257,Q53FS4,ABM82180,ABM85366 Hs.465295 GDB:1220149 ERGIC-53|ERGIC53|F5F8D|FMFD1|MCFD1|MR60|gp58 protein-coding 1321499 LMAN1L lectin, mannose-binding, 1 like 1580863 18283111,18056485,17805346,15489334,14702039,12975309,12880961,12477932,11255007 79748 NM_021819,AC091230,CH471136,AF303398,AK074096,AK074177,AK092591,AK291819,AL834517,AY358724 NP_068591,EAW99308,EAW99309,EAW99310,AAG30902,BAB84922,BAB85003,BAF84508,CAD39173,AAQ89086,Q7L876,Q8TEE7,Q9HAT1,AAI56428 Hs.620644 GDB:10796368 ERGIC-53L|ERGL protein-coding 1319046 LMAN2 lectin, mannose-binding 2 1580863 18025080,17586539,15489334,15308636,12934195,12754519,12609988,12477932,10444376,9373149,8125298 10960 NM_006816,AC146507,CH471195,AK222609,AK292099,BC017263,CR590886,CR591337,CR592547,CR593369,CR593789,CR593805,CR593856,CR598261,CR598935,CR599240,CR599898,CR600280,CR600316,CR600342,CR602519,CR606209,CR608422,CR609629,CR618804,CR620709,CR624761,CR626189,U10362 NP_006807,EAW85014,EAW85015,BAD96329,BAF84788,AAH17263,AAA19572,Q12907 Hs.75864 C5orf8|GP36B|VIP36 protein-coding 1322831 LMAN2L lectin, mannose-binding 2-like 1580863 12609988,12878160,18025080,16381901,16303743,15815621,15489336,15489334,12975309,12477932,11230166,11076863,9373149,8125298 81562 AC068539,CH471207,AJ549957,AK075347,AK222828,AL136617,AY358929,BC000347,BC004505,BC005822,BC005862,BC067265,BX648002,CR597210,CR616548,CR624728,NM_030805 NP_110432,AAX93211,EAW71341,EAW71342,EAW71343,EAW71344,CAD71268,BAC11559,BAD96548,CAB66552,AAQ89288,AAH00347,AAH05822,AAH05862,AAH67265,CAH56196,Q0JV75,Q9H0V9,CAL37585 Hs.655743 DKFZp564L2423|MGC11139|VIPL protein-coding 1352056 LMBR1 limb region 1 homolog (mouse) This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. 17300748,17152067,16381901,16344560,15489336,15489334,14727139,14702039,12853948,12837695,12690205,12491086,12477932,12032320,11606546,11333865,11090342,11076863,10945466,10329000,9847074,8533803 64327 BC017663,BC063649,CR594042,CR612009,CR622323,DA238712,H18430,NM_022458,AC005534,AC007075,AC007097,CH236954,CH471149,AF063592,AF348513,AF402318,AK021727,AK026940,AK291037,AL833934,AL834394 AAH17663,Q0JTN0,Q7LDY5,Q8NDP7,Q8WVP7,Q9H3J2,CAL37499,CAL38021,CAL38132,CAL38703,NP_071903,AAD43188,AAF03516,AAS00382,EAL23920,EAX04559,EAX04560,EAX04561,EAX04562,AAG43151,AAK31345,AAK94061,BAB13880,BAB15595,BAF83726,CAD38789,CAD39056 Hs.209989 GDB:10794644 ACHP|C7orf2|DIF14|FLJ11665|PPD2|TPT chromosome 7 open reading frame 2 protein-coding 1603995 LMBR1L limb region 1 homolog (mouse)-like 17991420,16423471,16344560,15489334,14702039,12975309,12591932,12477932,11287427,10574461 55716 NM_018113,AC011603,AF351620,CH471111,AB033000,AF260728,AK001356,AK001651,AK093570,AL137599,AL556633,AY358572,BC008337,BC015015,BC031550,CR594846,CR625783,DA012883 NP_060583,AAK63067,EAW58040,EAW58041,EAW58042,EAW58043,EAW58044,EAW58045,EAW58046,EAW58047,BAA86488,AAK60600,BAA91646,BAA91811,CAB70835,AAQ88935,AAH08337,AAH15015,AAH31550,Q6UX01,ABM83333,ABM86545 Hs.272838 FLJ10494|FLJ36251|KIAA1174|LIMR protein-coding 733977 LMBRD1 LMBR1 domain containing 1 15956556,15489334,14702039,14574404,12477932,11042152,9373149,8125298 55788 NM_018368,AL358133,AL583831,AL590702,CH471051,AF113224,AF208863,AF211480,AK002102,AK225187,AK225537,AK290069,AY136817,BC010360,BC047073,BX647737,CR595980,CR612672,CR618396 NP_060838,CAI16835,CAI16836,CAH74081,CAH74083,CAI17314,CAI17316,EAW48831,EAW48832,EAW48833,EAW48834,EAW48835,AAG39295,AAF64277,AAK26247,BAA92087,BAF82758,AAN11301,AAH10360,AAH47073,Q96FW4,Q9NUN5 Hs.271643 C6orf209|FLJ11240|RP11-810I22.1|bA810I22.1 protein-coding 1603597 LMBRD2 LMBR1 domain containing 2 14702039,12477932 92255 NM_001007527,AC008942,CH471119,AK091295,AL137370,BC110506,BC110507,BI559676,BX647340,CR749399 NP_001007528,EAW55932,EAW55933,CAB70714,AAI10507,CAH18245,Q08EJ3,Q68DH5 Hs.294103 DKFZp434H2226|DKFZp686G1057|MGC125692|MGC125693 protein-coding 1319043 LMCD1 LIM and cysteine-rich domains 1 The protein encoded by this gene contains a cysteine-rich domain in the N-terminal region and 2 LIM domains in the C-terminal region. It also has several potential phosphorylation and N-myristoylation sites and a single potential N-glycosylation site. The presence of LIM domains implies involvement in protein-protein interactions. Expression of this gene has been detected in most tissues, with highest expression in skeletal muscle. Transcript variants utilizing alternative polyA signals have been observed. 1580863 15489334,14702039,12477932,10662546 29995 NM_014583,AC087859,CH471055,AF169284,AF216709,AK022176,BC000646 NP_055398,EAW63937,EAW63938,AAF34411,AAG36778,BAB13976,AAH00646,Q9NZU5,ABM82673,ABM85852 Hs.475353 GDB:10796035 protein-coding 1348602 LMF1 lipase maturation factor 1 17994020,16344560,15489334,15221005,14702039,12477932,11157797,9373149,8125298 64788 NM_022773,AC009041,AE006465,AL008727,AL031008,AL031716,CH471112,CQ834724,AB075873,AK022743,AK025955,AK093050,AK125201,AK225065,AK225406,AL832177,BC010738,BC014196,CA427159,CR620877,DA200865 NP_073610,AAK61259,CAB56180,EAW85696,EAW85697,EAW85698,EAW85699,EAW85700,CAH05577,BAD38655,BAB14218,BAB15295,AAH10738,Q4VXX9,Q96S06,AAI56646 Hs.71912 GDB:11504873 C16orf26|FLJ12681|FLJ22302|HMFN1876|JFP11|TMEM112|TMEM112A chromosome 16 open reading frame 26 protein-coding 1606481 LMF2 lipase maturation factor 2 15461802,12477932 91289 CH471138,U62317,AK130818,BC002942,BC014652,BC021143,CR456605,CR595569,CR618750,CR626809,NM_033200 NP_149977,EAW73548,EAW73549,EAW73550,EAW73551,AAB03346,BAC85437,AAH02942,AAH14652,AAH21143,CAG30491,Q9BU23 Hs.150540 TMEM112B|TMEM153 protein-coding 1322938 LMLN leishmanolysin-like (metallopeptidase M8 family) 1580863 16344560,15557119 89782 NM_033029,AC135893,CH471252,AI967988,AJ312398,AJ312399,AL832783,DB054915 NP_149018,EAW92251,EAW92252,EAW92253,CAC42882,CAC42883,Q96KR4,AAI46294,AAI48742 Hs.518540 GDB:11506201 Gp63|Msp protein-coding 732790 LMNA lamin A/C The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. 1580514,1580515,1580516,1580530,1624984,1624985,1358482,737720 16344560,16344005,16289535,16288872,16262891,16248985,16246140,16239243,16236267,16218190,16179429,16169070,16129833,16126733,16117820,16084085,16083285,16061563,15998779,15982412,15961312,15919811,15798706,15793835,15748902,15668447,15639119,15636422,15635413,15622532,15551023,15527767,15489334,15476822,15372542,15342704,15317753,15302935,15298354,15284226,15265697,15219508,15205220,11801724,18348272,18311132,18093584,18077842,18041775,18035086,17994215,17935239,17893350,17881656,17870066,17848622,17760566,17718387,17711925,17701980,17612587,17605093,17550303,17536044,17469202,17459035,17454124,17428859,17360355,17360326,17352743,17334235,17327461,17327460,17327437,17301031,17291448,17227891,17150192,17136397,17117676,17097067,17090536,17081983,17069459,16981056,16964243,16916647,16825283,16823856,16779558,16772334,16738054,16697197,16645051,16565220,16518869,16481476,16461887,16410549,16371512,12196663,12154369,12145775,12138353,12112001,12075506,12057196,12032588,12018485,12015247,11973618,11953316,11929849,11901143,11897440,11836312,11833462,11799477,11792821,11792811,11792810,11792809,11790298,11709282,11691994,11576443,11532159,11503164,11440372,11344241,11243729,11231979,11173535,10999791,10984438,10960149,10814726,10806082,10739764,10739751,10727209,16357800,15205219,15184648,15080529,15032975,15026149,14985400,14759373,14702039,14675861,14644157,14627682,14597414,13129702,12927431,12920062,12844477,12788894,12783988,12768443,12729796,12718522,12714972,12702809,12673789,12629077,12628721,12534602,12524233,12477932,12475961,12467734,12429849,12409453,10673356,10662742,10655060,10587585,10580070,10514485,10508479,10080180,9563518,9436978,9367621,9274531,9243284,9106535,9030603,8978814,8889548,8838815,8621584,8511676,8477740,8344919,8324822,8278403,8058329,7951328,7925482,3462705,3453101,3403563,2544227,2406262,2344612,2209722,1667585,1602151,1599464,16189514,12755701,12670476,7628545 1580514,1580515,1580516,1580530,1624984,1624985,1358482,737720 4000 NM_170708,NM_005572,AL135927,CH471121,L12399,AA558657,AF381029,AK026584,AK056143,AK056191,AK057997,AK097801,AK098128,AK122732,AK130179,AY357727,AY528714,AY847595,AY847596,AY847597,BC000511,BC003162,BC014507,BC018863,BC033088,BU732343,CB854404,CR598617,CR600170,CR603908,CR604156,CR605674,CR619146,CR620993,CR622626,CR623720,CR626536,DA421696,M13451,M13452,X03444,X03445,NM_170707 NP_733821,NP_733822,NP_005563,CAI15520,CAI15521,CAI15522,CAI15523,CAI15526,CAI15527,EAW52996,EAW52997,EAW52998,EAW52999,EAW53000,AAK59326,AAR29466,ABB04050,AAW32538,AAW32539,AAW32540,AAH00511,AAH03162,AAH14507,AAH33088,AAA36164,AAA36160,CAA27173,CAA27174,P02545,Q3BDU5,Q5I6Y4,Q5I6Y5,Q5I6Y6,Q5TCJ2,Q5TCJ3,Q5TCJ4,Q6UYC3,Q8N519 Hs.594444 GDB:132146 CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|PRO1 lamin a 2289451 BW299_H protein-coding 733220 LMNB1 lamin B1 The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1. 1580863 2406262,2325650,2023931,1986862,12670476,16189514,7628545,7557986,17550303,16543417,16410549,16365157,16344560,16283426,16236267,16216881,16083285,15635413,15284226,15265697,14504265,12898336,12490158,12477932,12135703,11901153,11792809,11790298,11691994,11331782,10960149,10806082,10679189,9490046,9436978,9367621,9305626,9243284,8838815,8034666,6472420,2544227 4001 NM_005573,AC137794,CH471086,L37737,L37738,L37739,L37740,L37741,L37742,L37743,L37744,L37745,L37746,L37747,AU134245,BC012295,BC052951,BC078178,BC103723,CR609276,M34458 NP_005564,EAW48845,EAW48846,AAC37575,AAH12295,AAH78178,AAI03724,AAA36162,P20700,Q6DC98,ABM82518,ABW03383 Hs.89497 GDB:512284 ADLD|LMN|LMN2|LMNB|MGC111419 protein-coding 1345535 LMNB2 lamin B2 The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B2. This gene is in a head-to-tail orientation with the gene for the translocase of inner mitochondrial membrane 13 homolog gene. 1580863 17290216,17081983,17070523,16826530,16543417,15611042,15489334,15284226,15057824,15024083,12912926,12902329,12477932,11691994,11207047,10960149,10835276,10806082,9436978,9243284,8543011,3515346,2544227,2406262,1939065,1630457,1291239,924328,15910003 84823 CR594022,CR596055,CR599500,CR621930,M94362,NM_032737,AC005624,AC011522,CH471139,M94363,AL560944,BC006513,BC006551,BC009267,BE791439,BE791473,BM757169,BT007441 AAP36109,AAA80979,Q03252,NP_116126,AAC34573,EAW69378,EAW69379,AAB00873,AAH06551 Hs.538286 GDB:132147 LAMB2|LMN2|MGC2721 protein-coding 1354137 LMNL1 lamin A/C-like 1 8511676 4002 GDB:132148 1344804 LMNL2 lamin A/C-like 2 8511676 4003 GDB:132149 1352109 LMO1 LIM domain only 1 (rhombotin 1) LMO1 enocdes a cysteine-rich, two LIM domain transcriptional regulator. It is mapped to an area of consistent chromosomal translocation in chromosome 11, disrupting it in T-cell leukemia, although more rarely than the related gene, LMO2 is disrupted. 1580863 8595880,8078932,7957052,3259177,2501659,2311586,2052354,2034676,1703797,1507224,2303035,17471240,16103065,15489334,12477932,11528126,10603358,9872335,9020185,8876198 4004 NM_002315,AC091013,AJ277662,CH471064,U73635,BC039512,BC069673,BC069752,BC069793,BC096056,BC096057,BC096058,M26682,X64244 NP_002306,CAC14587,EAW68626,AAH39512,AAH69673,AAH69752,AAH69793,AAH96056,AAH96057,AAH96058,AAA36819,P25800,Q4VBC4,Q8IXR0 Hs.654426 GDB:120728 MGC116692|RBTN1|RHOM1|TTG1 protein-coding 1316093 LMO2 LIM domain only 2 (rhombotin-like 1) LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. 1580863 9214632,9209374,9129143,9001422,8078932,7957052,7731680,7568177,1923511,18187418,17964543,17910069,17878155,17360939,17268520,17038524,16873670,16314316,16189514,15761153,15541480,15489334,12878195,12727888,12609830,12477932,12067721,11882901,11751867,11069036,10866689,10431247,9819382,9736723,9452425,9391090,7475267,2052354,2034676 4005 NM_005574,AC113192,AC132216,CH471064,AF257211,BC034041,BC035607,BC042426,BC073973,CR604507,CR614368,CR625714,X61118 NP_005565,EAW68181,EAW68182,AAF98804,AAH34041,AAH35607,AAH42426,AAH73973,CAA43430,P25791,ABM83259,ABM86464 Hs.34560 GDB:127814 RBTN2|RBTNL1|RHOM2|TTG2 protein-coding 1346701 LMO3 LIM domain only 3 (rhombotin-like 2) 17579611,17314918,16713569,16189514,15930276,15489334,14702039,12477932,11489251,1507224 55885 BI553855,NM_001001395,NM_018640,AC007529,AC007552,CH471094,M64358,AB044745,AB044746,AF258348,AK095595,AL050152,AL050188,BC017777,BC026311,BC050085,BG714670,CR598247,CR611918 NP_001001395,NP_061110,EAW96370,EAW96371,EAW96372,EAW96373,EAW96374,EAW96375,EAW96376,EAW96377,BAD93349,BAD93350,AAF71368,BAC04582,AAH17777,AAH26311,AAH50085,Q58A66,Q58A67,Q8TAP4,Q9NYC6,ABZ92403 Hs.504908 GDB:127816 DAT1|MGC26081|RBTN3|RBTNL2|RHOM3|Rhom-3 protein-coding 1313837 LMO4 LIM domain only 4 LIM domain only 4 is a cysteine-rich, two LIM domain-containing protein that may play a role as a transcriptional regulator or possibly an oncogene. Its mRNA is characterized by a GC-rich 5' region and by multiple ATTT motifs in the 3' region. A variant transcript missing a portion of the 5' region has been identified but cannot be confirmed because of the GC-rich nature of the region. 10209267,18231110,17001033,15897450,15894532,15677447,15489334,15231748,12878195,12877980,12477932,12153047,11751867,10556429,9736723,12925972,12727888 8543 NM_006769,AC092392,CH471097,AK292578,BC003600,BC017673,BC065818,CR599134,U24576 NP_006760,EAW73168,EAW73169,BAF85267,AAH03600,AAH17673,AAH65818,AAB51073,P61968,ABM82373,ABM85552 Hs.436792 GDB:9958938 protein-coding 1351855 LMO7 LIM domain 7 This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain. An F-box (FBX) domain is present in alternative splice variants. Members of the LIM protein family carry the LIM domain, a unique cysteine-rich zinc-binding domain. Members of the FBX protein family are involved in protein-protein interactions. The encoded protein may be involved in protein-protein interactions. Multiple alternative splice variants have been described but their full-length sequences have not been determined. 1580863 10531035,9826547,17081983,17067998,16964243,16192285,16083285,15324660,15302935,14702039,12477932,12168954,11935316,10048485,15778465,15782160 4008 NM_005358,AF092557,AL137121,AL137244,AL137782,AL359392,CH471093,AB020665,AF144237,AF174600,AF330045,AK055465,AK074265,AK092052,BC036428,U90654 NP_005349,AAC96299,AAC96300,CAI39480,CAI12422,CAI12423,CAI40209,EAW80549,EAW80550,EAW80551,EAW80552,EAW80553,EAW80554,EAW80555,BAA74881,AAD33924,AAF04521,AAL37480,AAB86592,Q5JV83,Q5TBK5,Q5TBK6,Q8WWI1,AAI48409 Hs.207631 GDB:6108042 FBX20|FBXO20|KIAA0858|LOMP protein-coding 1316308 LMOD1 leiomodin 1 (smooth muscle) The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. 1580863 2026759,16633140,16344560,12477932,11350761,11318603,10520227,8811043 25802 AC099676,AL513217,CH471067,AK126474,BC001755,BC080187,DB228115,X54162,NM_012134 NP_036266,EAW91380,EAW91381,AAH01755,AAH80187,CAA38101,P29536,Q5VUU2,Q68EN2,Q9BV00 Hs.519075 GDB:10796202 1D|64kD|D1|SM-LMOD protein-coding 1603238 LMOD2 leiomodin 2 (cardiac) 18403713,16633140,12690205,12477932,11318603,9847074 442721 NM_207163,CH236947,BC017911,BC062765,DC385641 NP_997046,EAL24335,AAH17911,AAH62765,Q6P5Q4 Hs.592260 GDB:10796204 C-LMOD protein-coding 1603025 LMOD3 leiomodin 3 (fetal) 16633140,16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863 56203 NM_198271,AC092060,CH471055,AK057852,AK096900,AL832033,AL832709,BC017925,BC039202,BC121019 AAI21020,Q0VAK6,CAL38080,NP_938012,EAW65471,EAW65472,BAB71596,CAI46110,AAH39202 Hs.350621 GDB:10796807 DKFZp313F0135 protein-coding 1345388 LMPDZ1 LIM and PDZ domains 1 634540 634540 337938 GDB:11510851 1315801 LMTK2 lemur tyrosine kinase 2 1580863 12393858,18264097,18029400,17081983,16887929,15005709,12853948,12832520,12690205,10470851 22853 NM_014916,AC073101,AC091654,CH236956,CH471091,AB029002,AW183515,AY130988,BC131504,BC146773,BF001752,BM172505 NP_055731,AAS07515,EAL23894,EAW76719,EAW76720,EAW76721,BAA83031,AAN08717,AAI31505,Q8IWU2 Hs.444179 AATYK2|BREK|KIAA1079|KPI-2|KPI2|LMR2|cprk protein-coding 1351306 LMTK3 lemur tyrosine kinase 3 1580863 15489334,12477932,11572484 114783 NM_001080434,AC008403,AB067470,BC036690,CR618787 NP_001073903,BAB67776,AAH36690,Q96Q04 Hs.207426 KIAA1883|LMR3|TYKLM3 protein-coding 1312426 LMX1A LIM homeobox transcription factor 1, alpha Insulin is produced exclusively by the beta cells in the islets of Langerhans in the pancreas. The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear genes that bind to specific sequences within the promoter of the insulin gene (INS; MIM 176730) and interact with RNA polymerase to activate or repress transcription. LMX1 is a homeodomain protein that binds an A/T-rich sequence in the insulin promoter and stimulates transcription of insulin (German et al., 1994 [PubMed 7698771]).[supplied by OMIM] 16710414,15188402,15183721,12477932,12062816,9452425,9441763,9315627,7698771,1358758,14702039 4009 NM_177398,NM_177399,NM_001033507,AL160058,AL390730,AL590112,AY078391,AY078392,AY078393,AY078394,AY078395,AY078396,AY078397,AY078398,CH471067,AK122800,AK127724,BC066353,BC119743,BC119744 NP_796372,NP_796373,NP_001028679,CAH71967,AAL82892,AAL82893,EAW90743,EAW90744,AAH66353,AAI19744,AAI19745,Q0VDB5,Q6NZ39,Q8TE12,AAI60062 Hs.667312 GDB:383365 LMX-1|LMX1|LMX1.1|MGC87616 1643243 BW132_H protein-coding 1345352 LMX1B LIM homeobox transcription factor 1, beta 1599750,1599751,1580863 12792813,10767331,9590287,9618165,9837817,17905480,17728669,17710881,17515884,15928687,15638822,12819019,12646768,12477932,11978876,11956245,11956244,11668639,10854116,10571942,9590288,9441763,9199284 1599750,1599751 4010 NM_002316,AF059575,AL161731,AL161908,CH471090,AF057135,BC069588,BC069601,BC112120,BC113491,U77457 NP_002307,AAC27294,CAI40917,CAI40918,EAW87641,EAW87642,AAC39738,AAH69588,AAH69601,AAI12121,AAI13492,AAC13544,O60663,Q5VZ91,Q6ISC9,Q6ISE0,Q9UE66 Hs.129133 GDB:9834526 LMX1.2|MGC138325|MGC142051|NPS1 protein-coding 2291790 LNP1 leukemia NUP98 fusion partner 1 16467868,14702039,12477932 348801 NM_001085451,AC093003,AC128693,AC139015,CH471052,AK056320,AW295433,BC040562,BC067886,BC126362,BC130480,CR601329,CR622177 NP_001078920,EAW79821,AAI26363,AAI30481 Hs.591294 protein-coding 732137 LNPEP leucyl/cystinyl aminopeptidase This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. 1581849,1581864,1580863 12569180,12477932,12137746,12080061,11857741,11802774,11707427,11517297,11516173,11389728,10988299,10985965,10759854,10448104,9733056,9013800,5953194,3898693,1731608,15691326,9177475,8550619,17692401,17391061,17373876,17059388,16136012,16113565,16054015,15894523,15187412,14702039,14527672,12871575,12700100,12677009,12591177 1581849,1581864 4012 NM_005575,NM_175920,AC008850,AC008865,AJ131023,AJ131025,CH471084,AB208883,AK096804,BC028692,BC111718,BC113117,BG622952,BQ923659,D50810,U62768,U62769 NP_005566,NP_787116,CAB61646,CAB94753,EAW96084,BAD92120,BAC04866,BAA09436,AAB66672,AAB66673,Q0P690,Q59H76,Q8N8H6,Q9TNQ2,Q9TNQ3,Q9UIQ6,AAI60010 Hs.527199,Hs.656905 GDB:6306713 CAP|IRAP|P-LAP|PLAP aminopeptidase vp165 protein-coding 1317771 LNX1 ligand of numb-protein X 1 This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. 1580863 16002321,16189514,16713569,17936276,17504929,16832352,16344560,16122940,15489334,15367597,15010864,14702039,12975309,12477932,12468544,11922143,11782429,11521506,9535908 84708 NM_032622,NM_001126328,AC058822,AC095040,CH471057,AF237782,AK056823,AY358326,BC022983,BC034737,BC094772,CR598037,DA154083,DA625539,DA854815,DA874715 NP_116011,NP_001119800,AAY41000,EAX05450,EAX05451,AAK15039,BAB71291,AAQ88692,AAH22983,AAH34737,Q8TBB1,ABM84910 Hs.624833,Hs.655269 GDB:10796370 LNX|MPDZ|PDZRN2 ligand of numb-protein x protein-coding 1317872 LNX2 ligand of numb-protein X 2 1580863 16344560,15489334,15057823,14702039,12477932,11922143,11782429 222484 NM_153371,AL136439,AL138699,CH471075,AK022995,AK095319,BC036755,DB220129,DN990012 NP_699202,EAX08413,EAX08414,AAH36755,Q8N448 Hs.132359 FLJ12933|FLJ23932|FLJ38000|MGC46315|PDZRN1 protein-coding 2290030 LOC100137047-PLA2G4B hypothetical protein LOC8681 The LOC100137047-PLA2G4B mRNAs are naturally occurring co-transcribed products of the neighboring LOC100137047 and PLA2G4B genes. Incompletely processed read-through transcripts from these two loci are abundantly expressed in most tissues, but the function of the predicted protein product has not yet been determined. Alternative splicing of this gene results in different transcript variants, some of which are candidates for nonsense-mediated decay (NMD). 8889549,8889548,8125298,9745929,9377118,16617059,16344560,15999343,15862967,15489334,15274049,12477932,11741884,9705332,9373149,10085124,10358058 8681 NM_005090,NR_015346,AC020659,CH471125,AA064721,BI768993,BU688449,DA080158,DA096882,DA121536 NP_005081,EAW92520,EAW92521,EAW92522,O95712,Q19KD5,Q19KD6 Hs.198161 GDB:9956267 HsT16992|PLA2G4B|cPLA2-beta protein-coding 1606475 LOC113386 similar to envelope protein 8889548,14702039,12477932 113386 Q6ZRD3,Q96A10 NM_138781,AC010642,AC020915,CH471135,AK054868,AK126673,AK128311,BC010118,BC011670,BM680245 NP_620136,EAW72571,BAC86638,BAC87378,AAH11670,Q6ZRD3,Q96A10 Hs.435404 FLJ44718|FLJ46452 protein-coding 1605591 LOC116236 hypothetical protein LOC116236 14702039,12975309,12477932 116236 NM_198147,AC104564,CH471159,AK055889,AK056717,AY358212,BC012476 NP_937790,EAW51191,AAQ88579,AAH12476,Q6UXT9,Q96EC5 Hs.106510 protein-coding 1606741 LOC123688 similar to RIKEN cDNA C630028N24 gene 16341674,12477932 123688 NM_001083612,NM_001013619,AC027228,CH471136,AK126453,BC132753,BM045979,BM826406,DN831396 NP_001077081,NP_001013641,EAW99167,EAW99168,BAC86556,AAI32754,A2RU49 Hs.307962 protein-coding 1605005 LOC124220 similar to common salivary protein 1 16954406,16381901,16341674,15489336,15489334,12975309,12477932,11678034,11076863 124220 NM_145252,AC005361,CH471112,AY359021,BC009722,BF446936,BM786200,BQ924772 NP_660295,EAW85462,AAQ89380,AAH09722,Q0JRX0,Q96DA0,CAL37793,CAL38744 Hs.105887 HRPE773|PRO1567 protein-coding 1604542 LOC124446 hypothetical protein BC017488 12477932 124446 NM_001083613,NM_194280,AC093512,AC120114,CH471238,BC017488,BC031217,BC050051,BF724791,BU857546,CF453990,CR602452,CR612117,CR617113,CR623332,CR625007,DB506492 NP_001077082,NP_919256,EAW79966,EAW79967,EAW79968,AAH17488,AAH50051,Q86XT9 Hs.460574 protein-coding 1606977 LOC126147 hypothetical protein BC018697 12477932 126147 NM_145807,AC008888,CH471177,BC018654,BC018697,BC021210,BC033207 NP_665806,EAW52386,EAW52387,EAW52388,AAH18654,AAH18697,AAH21210,AAH33207,Q8WTR8,Q8WU63 Hs.326217 protein-coding 1606974 LOC130074 p20 14702039,12477932 130074 NM_001009993,AC009477,CH471250,AK022529,AK023868,AL137406,AL137413,AL833819,AY253283,BC035115,BC066347,BC110642,BC127804,BX647486,CR590062,CR609575,DB453209 NP_001009993,EAW51267,EAW51268,CAH10735,AAP79599,AAH66347,AAI10643,A1KXE4,Q69YH2 Hs.534679 MGC87527 protein-coding 1606162 LOC130355 hypothetical protein LOC130355 12477932 130355 CH471103,BC047365,BC062434,BC105805,BC126395,BC126397,CR624749,NM_001017927,AC016736 EAW95213,AAH47365,AAI05806,AAI26396,AAI26398,Q3KRA6,NP_001017927 Hs.99488 MGC104437 protein-coding 1602653 LOC130576 hypothetical protein LOC130576 12477932 130576 NM_177964,AC009230,AC073271,CH471058,AF435957,BC018203,BC040176 NP_808879,AAY14974,EAX11541,EAX11542,EAX11543,AAM20908,AAH18203,AAH40176,Q8NI32 Hs.357567 protein-coding 1603183 LOC134145 hypothetical protein LOC134145 14702039,12477932,8681137 134145 NM_199133,AC012640,AC034229,CH471102,AA856750,AK000674,AK055604,AK123462,BC048801,BC063406,F29251 NP_954584,EAX08073,EAX08074,AAH63406,Q6P4H8 Hs.481569 FLJ20667 protein-coding 1604236 LOC136242 Peptidase S1 domain-containing protein LOC136242 14702039,12690205 136242 NM_001008270,AC093638,AX247864,AX318279,CH236950,CH471070,AK097648,AK172866,BC137353,BC137354 NP_001008271,CAC88648,CAD19358,EAL24014,EAW83985,EAW83986,EAW83987,AAI37354,AAI37355,A4D1T9 Hs.98947 protein-coding 1604233 LOC144097 hypothetical protein BC007540 12477932 144097 NM_138471,AP006289,CH471076,BC002782,BC007540,BC056402,CR597472,CR602254,CR622295,CR749697 NP_612480,EAW74172,AAH02782,AAH07540,AAH56402,CAH18477,Q9BUA3 Hs.502793 DKFZp762N0114 protein-coding 1605285 LOC144983 heterogeneous nuclear ribonucleoprotein A1-like 14702039,12477932 144983 NM_001011724,NM_001011725,AL137058,CH471124,AK091082,AK094423,AK123081,AK123159,AK126454,BC082242,BC108266,BQ425201,BX477483,CD523364 NP_001011724,NP_001011725,CAI16736,EAW52040,EAW52041,EAW52042,AAI08267,Q32P51,Q5TBS2 Hs.447506 MGC102957 protein-coding 1602296 LOC146325 similar to hypothetical protein FLJ13841 12477932 146325 NM_145270,AE006464,CH471112,BC016613 NP_660313,AAK61234,EAW85802,AAH16613 Hs.632220 protein-coding 1604522 LOC147804 tropomyosin 3 pseudogene 14702039,12477932 147804 NR_003148,AC022137,AK094777,BC047783,BC061910,BX647962 AAH61910,Q6P709 Hs.433293,Hs.708302 MGC71022 pseudo 1606703 LOC149620 CHIA-like pseudogene 12477932 149620 NR_003928,AL513202,CH471122,BC031662 EAW56483,EAW56484,Q5VUV6 RP11-165H20.1 pseudo 1606701 LOC149643 hypothetical LOC149643 12477932 149643 NM_001024601,AC104333,CH471100,AY640234,BC035742 NP_001019772,EAW93375,AAU14247,AAH35742,Q537H7 Hs.153274 protein-coding 1605866 LOC149950 hypothetical LOC149950 12477932 149950 BC130464,NM_001010976,AL133343,BC111383,BC130462 AAI30463,AAI30465,Q5W150,NP_001010976,CAH73560,AAI11384 Hs.516980 MGC163334|MGC163336 protein-coding 1604988 LOC150297 hypothetical protein LOC150297 15461802,12477932 150297 NM_001010859,AL008723,CH471095,BC040263,CR456485 NP_001010859,CAI23289,EAW60007,EAW60008,CAG30371,Q6IC83,AAI39846 Hs.426551 RP1-127L4.6|dJ90G24.6 protein-coding 1604737 LOC150383 similar to RIKEN cDNA 2210021J22 15461802,12477932 150383 NM_207327,AL078611,CH471138,AK127072,AW085176,BC036462,BC045796,BC067871,BX648331,CR456415,CR598840,CR600118,CR613320,CR617183,CR617709,CR621136 NP_997210,CAI18763,EAW73406,EAW73407,EAW73408,EAW73409,BAC86813,AAH45796,AAH67871,CAG30301,Q3ZCR8,Q6ICF3,Q6NVV7,Q6ZSY3 Hs.103110,Hs.592209 protein-coding 1601718 LOC150763 hypothetical protein LOC150763 16344560,12477932 150763 AC013272,CH471207,AK122580,AK122734,AK131194,AK131197,BC042847,BC064574,BC068596,NM_207328,CB961934,DB168291 NP_997211,EAW71391,EAW71392,EAW71393,EAW71394,BAC56921,BAC85508,BAD18390,BAD18392,AAH64574,AAH68596,Q6NUI2,Q86YV7 Hs.590914,Hs.679801 protein-coding 1602293 LOC151534 hypothetical protein BC009264 14702039,12477932,11181995 151534 CH471053,AK096725,AK125271,BC009264,BC101224,BC101225,BC101226,BC101227 EAW99634,EAW99635,AAI01225,AAI01226,AAI01227,AAI01228 Hs.516124 MGC120166 protein-coding 2291780 LOC152217 hypothetical LOC152217 14702039,12477932 152217 XR_017724,XR_040188,XR_017713,AC011322,AK123020,AL832915,BC000257,BC007882,BC062368 CAH10618,AAH62368,Q6P6A7,Q9BWH0 Hs.118820 DKFZp762I1415|FLJ41024|MGC71256 miscrna 1605861 LOC152586 similar to RIKEN cDNA 4933434I20 16773575,15815621,12477932 152586 XM_001725473,XM_001720199,XM_001720248,AC093671,BC041818 XP_001725525,XP_001720251,XP_001720300,AAH41818,A6NG13,Q49AA7 MGC43429 protein-coding 1601716 LOC153328 similar to CG4995 gene product 12477932 153328 NM_145282,AC011427,CH471062,AK126812,BC025747 NP_660325,EAW62205,EAW62206,EAW62207,BAC86705,AAH25747,Q6ZT89 Hs.709341 protein-coding 1601715 LOC153364 similar to metallo-beta-lactamase superfamily protein 14702039,12477932 153364 AC093510,CH471084,AI288430,AK096942,AK128603,AK289778,BC038230,BI918374,CR594652,CR620210,CR749512,NM_203406 NP_981951,EAW95979,BAC04908,BAF82467,AAH38230,CAH18329,Q68D91 Hs.64004 DKFZp686P15118|MGC46734 protein-coding 2292117 LOC153684 hypothetical LOC153684 14702039,12477932 153684 XR_040068,XR_040067,XR_018004,AC025171,AK002146,AK123995,BC101382,BC101383,BC101384,BC101385 BAC85747,AAI01383,AAI01384,AAI01385,AAI01386,Q6ZVW3 Hs.259625 MGC120598 miscrna 1606444 LOC154907 hypothetical LOC154907 9887257 154907 NM_001024607,AC004014,CH236947,AF103078,AF103195 NP_001019778,EAL24381,AAD16519,AAD30755 Hs.276325,Hs.638689 protein-coding 1604224 LOC158381 ATPase, Class I, type 8B family pseudogene 12477932 158381 NR_003582,NR_003581,AL133476,AL160274,AL592145,CH471071,BC031276,BC035229,BC047452,BC130448,BC130450 EAW58379,EAW58380,EAW58381,EAW58382,AAH31276,AAH35229,AAI30449,AAI30451,Q49AM8,Q4G129 Hs.575661 pseudo 1606442 LOC158830 similar to Ab2-183 8889549 158830 NM_001025265,AL590764,CH471132,AA889552,W95038 NP_001020436,EAX05320 Hs.443936 protein-coding 1604732 LOC162073 hypothetical protein LOC162073 14702039,12477932 162073 NM_001034841,AC099518,CH471186,AK026647,AK096327,AK097274,BC015343,BC101749,BC101751,BG116542,BX382445 NP_001030013,EAW50272,AAI01750,AAI01752,Q3MIP1 Hs.530899,Hs.648523 FLJ22994|MGC126798|MGC126800 protein-coding 1603353 LOC165186 similar to RIKEN cDNA 4632412N22 gene 16344560 165186 NM_199280,AC105398,CH471053,AK125239,AK125744,BI768759,BQ772038,DA213268,DA460119 NP_954974,EAX00519,EAX00520,BAC86095,BAC86270,Q6ZUX3 Hs.525977 protein-coding 1606433 LOC196541 hypothetical protein LOC196541 12477932 196541 NM_001010977,AL158063,CH471085,BC132748,BC132750,CR595660 NP_001010977,CAH72181,EAX09060,EAX09061,EAX09062,AAI32749,AAI32751,Q5VZV1 Hs.508623 protein-coding 1602424 LOC196913 hypothetical protein LOC196913 196913 CH471078,NM_001014830,AL109758,AF390030 NP_001014830,EAW65733,EAW65734,AAL58840,Q8WXQ3 Hs.647584 protein-coding 1604727 LOC198437 bA299N6.3 12477932 198437 NM_001007125,AL590548,CH471077,BC036837 NP_001007126,CAD11903,CAD27487,EAW75164,EAW75165,AAH36837,Q8TD35 Hs.570316 protein-coding 1606684 LOC200383 similar to Dynein heavy chain at 16F 12477932,11214970 200383 AC098975,AB051484,AK027182,AL512706,BC015442,BC117259,AC010087 AAX93115,BAB21788,BAB15685,CAC21651,AAH15442,AAI17260,Q9C0G6,AAX93108 Hs.249972 protein-coding 1605265 LOC200810 similar to beta-1,4-mannosyltransferase; beta-1,4 mannosyltransferase 12477932 200810 NM_001015050,AC092903,CH471052,BC073816 NP_001015050,EAW79378,EAW79379,EAW79380,EAW79381,AAH73816,Q6GMV1 Hs.591299 protein-coding 1602058 LOC201164 similar to CG12314 gene product 14702039,12477932 201164 NM_178836,AC055811,CH471196,AK090899,AK098419,BC031263 NP_849158,EAW55718,BAC03541,BAC05303,AAH31263,Q8N2A8,Q8N7H7 Hs.31652 protein-coding 1604508 LOC201175 hypothetical protein LOC201175 12477932 201175 CH471178,AF258593,AK290650,BC067345,NM_174919,AC091132 EAW51527,AAG23796,BAF83339,AAH67345,NP_777579 Hs.205326 protein-coding 1606430 LOC201725 hypothetical protein LOC201725 16344560,16303743,14702039,12477932 201725 NM_001008393,NG_007078,AC107219,CH471056,CQ783770,AK027539,AK074948,BC065017,BC094775,DB289388 NP_001008394,EAX04855,CAF86853,AAH65017,AAH94775,Q504U0 Hs.380920 protein-coding 1604506 LOC202459 similar to RIKEN cDNA 2310008M10 12477932 202459 NM_145303,AL589931,AL627422,BC024224 NP_660346,AAH24224,Q8TBU1 Hs.487035 protein-coding 1604972 LOC203547 hypothetical protein LOC203547 11256614,16381901,15489336,14702039,12477932,11076863 203547 NM_001017980,AF003627,CH471169,AF086459,AK025798,AK091301,AK096835,AL833596,BC103701,BC103702,BC105693,BC105694,BC110800 NP_001017980,EAW99403,EAW99404,AAI03702,AAI03703,AAI05694,AAI05695,AAI10801,Q3ZAQ7,CAL37544 Hs.58633 MGC125514|MGC125516|MGC131652 protein-coding 1604970 LOC220416 similar to Leucine-rich repeat protein SHOC-2 (Ras-binding protein Sur-8) 12477932 220416 XM_001716651,XM_001718341,XM_001714777,AL137141,AL139801,CH471075,BC030276 XP_001716703,XP_001718393,XP_001714829,EAX08759,EAX08760,EAX08761,AAH30276,Q05C16,Q5TBN0 Hs.267765 protein-coding 1602174 LOC220594 TL132 protein 12477932,11997339 220594 NR_003554,AC107983,AJ012755,AK124785,AK308293,BC075826,BC126273 CAA10171,O95482 Hs.234573,Hs.462475 FLJ98241 pseudo 1604504 LOC220686 hypothetical protein LOC220686 16189514,12477932,12107411,7566098 220686 Q6ZT68,Q8WUK7 NM_199283,AP000557,AA300351,AA425488,AK126860,BC020225,BQ638971,BX407261,BX452846 NP_954977,BAC86726,AAH20225,Q6ZT68,Q8WUK7 Hs.448225 protein-coding 1602173 LOC253012 hypothetical protein LOC253012 14702039,12975309,12477932 253012 NM_198151,NM_001039372,AC000119,AC002453,CH236949,AK096002,AY358345,BC046365,BC139906 NP_937794,NP_001034461,AAQ88711,AAI39907,A8MVW5 Hs.443169 protein-coding 1602638 LOC255374 similar to hypothetical protein MGC49416 12690205,12477932 255374 NM_203397,AC073842,CH236956,CH471091,AW449216,AW772344,BC031288,BQ441096 NP_981942,EAL23849,EAW76587,AAH31288 Hs.632319 MGC39819 protein-coding 1607063 LOC26010 viral DNA polymerase-transactivated protein 6 11256614,16381901,16344560,15489336,15342556,14702039,12477932,11230166,11076863 26010 NM_015535,NM_001100422,NM_001100424,NM_001100423,AC012459,AC074213,AC105381,CH471063,AF193059,AK002064,AK021816,AK090703,AK090867,AK092917,AK290496,AL110124,AL525852,AY450394,BC010848,BC018736,BC065817,BP310992,BQ030316,CN480518,CR600930,CR617341,DB206952,DB454965 NP_056350,NP_001093892,NP_001093894,NP_001093893,AAY24307,AAX88978,EAW70197,EAW70198,EAW70199,EAW70200,EAW70201,AAG22487,BAA92065,BAF83185,CAB53658,AAR21087,AAH18736,Q4ZFW0,Q9NUQ6,CAL37655 Hs.120323 DKFZp564A2416|DNAPTP6 protein-coding 1345656 LOC27320 hypothetical protein LOC27320 27320 XM_376618,XM_499300 XP_376618,XP_499300 GDB:10795963 TNRC18 trinucleotide repeat containing 18 protein-coding 1604186 LOC283129 hypothetical protein LOC283129 14702039,12477932 283129 NM_001037225,AP000436,AP001187,CH471076,AK093130,BC033501,BC106951,BC106952 NP_001032302,EAW74328,AAI06952,AAI06953,Q3KP22 Hs.567793 MGC126364 protein-coding 1604184 LOC283152 hypothetical protein LOC283152 12477932 283152 NM_001033658,AP002956,CH471065,BC043548,BC101443,BC101444,BC101986 NP_001028830,EAW67475,AAI01444,AAI01445,AAI01987,Q494R4 Hs.114777 MGC125447|MGC125448 protein-coding 2290505 LOC283174 hypothetical LOC283174 12477932 283174 XR_017873,XR_017972,XR_039979,AP001979,CH471065,AK123849,AL133591,BC101691,BC104851,BC106032,BX641055 EAW67813,BAC85707,AAI01692,AAI04852,AAI06033,CAH10550,Q3KQW1,Q6AWC8,Q6ZW01 Hs.504370 MGC117185|MGC126740 miscrna 1603520 LOC283392 hypothetical protein LOC283392 14702039,12477932 283392 Q4G0G7 NM_001025457,AC087886,AK095156,BC093901,BC093903 AAH93903,Q4G0G7,NP_001020628,AAH93901 Hs.363603,Hs.690633 protein-coding 1603255 LOC283514 similar to seven in absentia 2 16344560,14702039,12477932 283514 NM_198849,AL157819,AK125411,BC041372,DA804734 NP_942146,AAH41372,Q8IW03,AAI48397 Hs.368483 FLJ39203 protein-coding 1603254 LOC283551 hypothetical protein LOC283551 14702039,12477932 283551 NM_001012706,AL117692,CH471078,AK090420,AK091232,BC058283,BC128083 NP_001012724,EAW65738,BAC03401,AAI28084,Q8NF59 Hs.660867 MGC149108 protein-coding 1606115 LOC283755 hypothetical protein LOC283755 15146197,12477932,9730612,1608955 283755 NM_001024682,AC026495,AC138748,BC000975,BC033888,BC094757,CN398998 NP_001019853,AAH00975,Q9BVR0,AAI66678 Hs.655732 protein-coding 1605829 LOC283874 hypothetical protein LOC283874 14702039,12477932 283874 Q6ZMS2,Q9NX77 NM_001012731,AC092117,AC141586,AK000400,AK091794,AK095440,AK097014,AK097909,AK131509,AX747190,BC043252,BX335435 NP_001012749,BAA91140,BAD18653,Q6ZMS2,Q9NX77 Hs.647398 FLJ20393 protein-coding 2292065 LOC283932 hypothetical LOC283932 14702039,12477932,8012384 283932 XR_040476,XR_040474,XR_040475,AC135048,CH471192,Z64539,AK090544,AK092263,BC101464,BC101988,BC105926 EAW52191,BAC03841,AAI01465,AAI01989,AAI05927,Q3KR42,Q494R0,Q8NAQ9 Hs.663752 MGC125469|MGC125470|MGC125472 miscrna 1605551 LOC283951 hypothetical protein LOC283951 12477932,11157797 283951 NM_001010878,AE006467,AL032819,CH471112,BC023590,BC092497 NP_001010878,AAK61280,EAW85657,EAW85658,AAH92497,Q4G0I0,Q96RZ0,AAI40335,AAI46484 Hs.58373 MGC104723|gs103 protein-coding 1605252 LOC284009 hypothetical protein LOC284009 14702039,12477932 284009 NM_001025459,AC006435,CH471108,AK093990,BC093711,BC112034 NP_001020630,EAW90540,AAH93711,AAI12035,Q4G0H6 Hs.632244 MGC138239 protein-coding 1604711 LOC284297 hypothetical LOC284297 14702039 284297 XM_001718392,XM_001719242,XM_001718440,AC008735,AF086519,AK092577,BC130538,BC130540 XP_001718444,XP_001719294,XP_001718492,BAC03917,AAI30539,AAI30541,Q8NAJ5 Hs.554182,Hs.585907 protein-coding 1604182 LOC284402 hypothetical protein LOC284402 14702039,12477932 284402 NM_001025591,AC022143,AK093495,BC093909,BC093935,BX105421 NP_001020762,AAH93909,AAH93935,Q4G0G5 Hs.656990 protein-coding 1603345 LOC284757 hypothetical protein LOC284757 14702039 284757 Q6ZRE1 AK128288,NM_001004305,AL035070,AL121918,AK092805 BAC87369,Q6ZRE1,NP_001004305 Hs.534781,Hs.656468 FLJ46426 protein-coding 1603250 LOC284861 hypothetical gene supported by BC039313 12477932 284861 XM_001715190,XM_001715905,AP000550,AK128837,BC039313 XP_001715242,XP_001715957,BAC87637,Q6ZQP7,Q8IXS4 Hs.645542 protein-coding 1603157 LOC284912 hypothetical gene supported by BC001801 12477932 284912 NM_203375,AL049747,CH471095,BC001801,BG471420 NP_976309,EAW60068,AAH01801,Q9BUY1 Hs.306978 MGC3170 protein-coding 1606112 LOC285033 hypothetical protein LOC285033 14702039,12477932 285033 NM_001037228,AC012307,CH471207,AK057419,BC101730,BC101732,CR619653 NP_001032305,EAW71380,EAW71381,AAI01731,AAI01733,Q3KRF4 Hs.58648 MGC126779|MGC126781 protein-coding 1606111 LOC285074 hypothetical protein LOC285074 14702039,12477932 285074 NM_001012626,XM_001133670,AC092651,AC125232,AK057663,BC069048,BC132791,BC132793 NP_001012644,XP_001133670,AAH69048,AAI32792,AAI32794 Hs.424184 protein-coding 1605238 LOC285382 hypothetical gene supported by AK091454 285382 NM_001025266,AC007934,AC025573,CH471052,BC137179,BC150565 NP_001020437,EAW78232,AAI37180,AAI50566 Hs.380048 protein-coding 1604481 LOC285636 hypothetical protein LOC285636 14702039 285636 NM_175921,AC034222,CH471119,AK094002,AL833916,BC131721,BF439305,BX648350 NP_787117,EAW56016,EAW56017,AAI31722,CAH10547,Q6AW98 Hs.29899 protein-coding 1604176 LOC285735 hypothetical protein LOC285735 12477932 285735 Q3KRF6 NM_001037231,CH471051,BC039371,BC101702,BC101704 NP_001032308,EAW48007,AAI01703,AAI01705,Q3KRF6 Hs.407549 MGC126751|MGC126753 protein-coding 1601921 LOC285766 hypothetical protein LOC285766 14702039 285766 AK097546 Hs.657946 pseudo 1603512 LOC285908 hypothetical protein LOC285908 14702039,12477932 285908 NM_181722,AC008267,CH236961,CH471140,AA412349,AK091213,AK092625,AK124597,BC020399,BC093655,BC093657,BQ645787 NP_859073,EAX07935,BAC03927,AAH93655,AAH93657,Q52M62,Q8NAI8 Hs.50755 protein-coding 1606658 LOC286187 similar to RIKEN cDNA 1700011J18 12477932 286187 NM_001013626,AC110998,CH471068,BC055413 NP_001013648,EAW86927,AAH55413,Q7Z4L9 Hs.632064 protein-coding 1605544 LOC286526 Ras-like GTPase-like 15772651,15489334,12477932,12076535 286526 P0C0E4 NM_001031834,Z95624,BC101169,BC101170,BC101171,BC101172 NP_001027004,CAB09136,AAI01170,AAI01171,AAI01172,AAI01173,P0C0E4 Hs.449517 MGC119958|MGC119959|MGC119960|MGC119961|RAR2 protein-coding 1601801 LOC339123 hypothetical LOC339123 12477932,11157797 339123 NM_001005920,AE006464,CH471112,AF370420,AI022970,BC073785,BC094850,BC137100,BC137101,BI463867,CR592573,CR607606,CR608736,CR613585,CR621444,CR624596,CR625506,DQ074695 NP_001005920,AAK61243,EAW85754,EAW85755,AAQ15256,AAH73785,AAH94850,AAI37101,AAI37102,AAY82251,Q4PKE3,Q4VBY1,Q6GMW5,Q71RB8,Q96S16 Hs.533771 PP14397 protein-coding 1606912 LOC339344 hypothetical protein LOC339344 15615774,12477932 339344 NM_001012643,AC008623,BC044311 NP_001012661,AAH44311,Q86VE0 Hs.515478 protein-coding 1602410 LOC339977 similar to hypothetical protein MGC38937 12477932 339977 NM_001024611,AC093858,AC104784,BC040414,CR749811 NP_001019782,CAH18671,Q68CR7 Hs.661450 protein-coding 1602273 LOC340069 hypothetical protein LOC340069 12477932 340069 NM_182761,AC010409,AF427126,AY692447,BC040622,BC128242,BC128243 NP_877438,AAP97296,AAU04855,AAH40622,AAI28243,AAI28244,A1A519,Q7Z4V2 Hs.406861 MGC149385|ZNFD protein-coding 1604478 LOC340204 hypothetical protein LOC340204 12477932 340204 NM_001010886,AL157823,CH471081,AI018488,BC133046,BC150543,BC150544,BX106742 NP_001010886,CAI21640,EAX03849,AAI33047,AAI50544,AAI50545 Hs.131296 protein-coding 1603340 LOC340602 similar to CG32656-PA 12477932 340602 NM_203407,AL158055,CH471180,BC046248 NP_981952,EAW89908,AAH46248,Q86X51 Hs.97053 MGC47837 protein-coding 1602046 LOC342897 similar to F-box only protein 2 12477932 342897 NM_001001414,AC011443,CH471126,AK123941,BC067874,BC092493 NP_001001414,EAW56867,BAC85732,AAH67874,AAH92493,Q6ZVX7 Hs.451636 protein-coding 1604952 LOC345222 hypothetical gene supported by BC043530 12477932 345222 NM_001012982,NM_001042690,AL390059,AL645949,CH471131,AK126094,BC043530 Q6ZTZ1,NP_001013000,NP_001036155,EAW82473,BAC86436 Hs.442291 protein-coding 1606098 LOC347487 hypothetical LOC347487 347487 NM_001013403,AL590077,BC137148,BC137149 NP_001013421,CAI40419,AAI37149,AAI37150,Q5JRM2 Hs.121384 protein-coding 1601919 LOC348174 secretory protein LOC348174 16303743,14702039,12975309,12477932 348174 NM_182619,AC026468,CQ782710,AF428259,AF521893,AK074773,AK096051,BC008616,BC078143 NP_872425,CAF85945,AAP97299,AAP80866,BAC11199,BAC04687,AAH08616,AAH78143,A5D8T8,Q7Z4U9,Q8N8X4,Q8NCF0 Hs.592064 protein-coding 1603840 LOC348262 hypothetical protein LOC348262 12477932 348262 NM_207368,NM_001093767,AC145207,CH471099,AK000852,AK125584,BC017108,BC019318,BC041068,BC063557,BC094876,BC111795,BX649156 NP_997251,NP_001087236,EAW89687,EAW89688,BAC86211,AAI11796,Q6ZUL0 Hs.514632 DKFZp686A17165|MGC133184 protein-coding 1605802 LOC348840 hypothetical LOC348840 12477932 348840 NR_003291,AC073135,CH471252,AK125940,BC042518,BC053879 EAW92257,EAW92258,BAC86352,AAH53879,Q6ZU74,Q7Z6C4 Hs.512227 pseudo 1602269 LOC349114 hypothetical protein LOC349114 14702039,12477932 349114 Q8N836 NM_198284,AC004987,CH236951,AK097404,BC053841 NP_938025,BAC05037,Q8N836 Hs.414183 protein-coding 1602629 LOC374920 hypothetical protein LOC374920 12477932 374920 XM_001713770,XM_001713771,XM_001713772,AC011466,CH471177,BC043386 XP_001713822,XP_001713823,XP_001713824,EAW52318,AAH43386,Q86XI8 Hs.664054 MGC50339 protein-coding 1606382 LOC387646 leucine rich repeat containing 37, member A family pseudogene 387646 NR_003525,AL160291,CH471072,AK126872 BAC86731,Q6ZT63,EAW86057 Hs.631829 FLJ44924 pseudo 1605794 LOC387856 similar to expressed sequence AI836003 11256614,16381901,15489336,14702039,12477932,11076863 387856 NM_001013635,AC074029,CH471111,AK056003,AK056783,BC036801,BC049387 NP_001013657,EAW57977,BAB71071,BAB71283,AAH36801,Q52MB2,CAL37738 Hs.251699 protein-coding 1604923 LOC388152 hypothetical protein FLJ90297 12477932 388152 Q8NCE8 XM_001126328,AC136698,AK074778,AW205478,BC071951,BC096759,BG248101,BU931675 XP_001126328,BAC11203,AAH71951,AAH96759,Q8NCE8 Hs.645529,Hs.673435 MGC60197 protein-coding 1602265 LOC388199 hypothetical LOC388199 11157797 388199 NM_001013638,AE006465,AL023882,AL031033 NP_001013660,AAK61258,Q96S07,AAI56146,AAI56985 Hs.528461 gs64 protein-coding 1604693 LOC388272 similar to RIKEN cDNA 4921524J17 12477932 388272 NM_001001436,AC007225,CH471092,BC056676,BX647945,CR622077 NP_001001436,EAW82689,AAH56676,CAH56192,Q6PH81 Hs.705603 MGC62018 protein-coding 1604450 LOC388335 RIKEN cDNA A730055C05-like 388335 NM_001004313,AC002347,CH471108,AK289624,AY550194,BC127705,EF126147 NP_001004313,EAW89993,EAW89994,BAF82313,AAS57719,AAI27706,ABL75442,Q6QAJ8 Hs.462230 protein-coding 1603837 LOC388503 similar to Complement C3 precursor 388503 NM_001013640,AC020931,CH471106,AK131489,CB162385,DT932550 NP_001013662,EAW84063,EAW84064,EAW84065,BAD18634,Q6ZMU1,AAI46352,AAI48838 Hs.655363 protein-coding 1601794 LOC388524 ribosomal protein SA pseudogene 12477932 388524 NM_001005472,NR_003662,AC139769,CH471106,BC071971 NP_001005472,EAW84950,EAW84951,EAW84952,AAH71971 Hs.560655 similar to laminin receptor 1 pseudo 1601688 LOC388610 hypothetical LOC388610 12477932 388610 NM_001013642,AL356390,CH471059,AI366714,BC069216,CK904126 NP_001013664,EAX07778,AAH69216,Q6NT89 Hs.355747 protein-coding 1601686 LOC388692 hypothetical gene supported by AK123662 388692 Q6ZW35 NM_001013644,AL356957,AK123662 NP_001013666,BAC85672,Q6ZW35 Hs.454790 protein-coding 1603239 LOC388882 hypothetical LOC388882 12477932 388882 Q8N402 NM_001006606,AP000344,AP000345,BC036910 NP_001006607,AAH36910,Q8N402 Hs.542766 protein-coding 1603150 LOC388910 hypothetical LOC388910 388910 NM_001012986,AL022333 NP_001013004,CAI42832,Q5JZ73 Hs.332685 protein-coding 1603149 LOC388915 hypothetical LOC388915 388915 Q5R3S2 NM_001010902,CH471138,Z78421 NP_001010902,EAW73458,CAI18780,Q5R3S2 Hs.405993 protein-coding 1603147 LOC388965 FUN14 domain containing 2 pseudogene 12477932 388965 NR_003663,AC097458,CH471053,BC067852 EAW99560,AAH67852 Hs.664098 MGC39809 pseudo 1606379 LOC388969 hypothetical LOC388969 14702039,12477932 388969 NM_001013649,AC012454,AC016753,CH471053,AK024174,AK092972,AK124808,BC057834,BC111483 NP_001013671,EAW99495,BAC85956,AAH57834,AAI11484,Q2NKX9 Hs.699599 FLJ14112|FLJ35653|MGC131675 protein-coding 1605792 LOC389118 VLLR9392 12975309,12477932 389118 NM_001007540,AC139451,AY358221,BC132756,BC146674 NP_001007541,AAQ88588,AAI32757,AAI46675,Q6UXT0 Hs.363312 MGC164982|PRO34300 protein-coding 1605791 LOC389151 hypothetical gene supported by AK127998 389151 NM_001013650,AC130416,AK127998,BC137145,BC137146 NP_001013672,BAC87223,AAI37146,AAI37147,Q6ZRT6 Hs.531376 protein-coding 1602624 LOC389286 similar to FKSG62 389286 Q9BXE7,Q9BZ55,Q9BZ61 NM_001018022,AL161656,AF338197 NP_001018022,AAK08113,Q9BXE7,Q9BZ55,Q9BZ61 FKSG69 protein-coding 1602264 LOC389458 hypothetical LOC389458 12477932 389458 NM_203393,NR_015343,AC092032,CH471144,AA292828,AA398766,AI015600,BC031661,CR745855 NP_976327,EAW87319,AAH31661,A6NC62 Hs.396178 MGC35170 hypothetical gene supported by bc031661 miscrna 1604690 LOC389541 similar to CG14977-PA 12477932 389541 NM_001008395,AC073842,AX588498,CH236956,CH471091,BC063401,BC105609,BC130553,BC130559,BE733059,BG715626,CR622617 NP_001008396,CAD61554,EAW76584,EAW76585,AAH63401,AAI05610,AAI30554,AAI30560,Q0VGL1 Hs.406520 MGC163425|MGC163431 protein-coding 1602037 LOC389607 hypothetical gene supported by AK128318 389607 Q6ZRD0 NM_001013651,AC090691,AK128318 NP_001013673,BAC87382,Q6ZRD0 Hs.679027 protein-coding 2290200 LOC389791 hypothetical LOC389791 14702039,12477932 389791 XR_041545,XR_041546,XR_041544,AL590708,CH471090,AK094537,BC132745,BC132747,BC141829 EAW87747,BAC04375,Q8N1Y9 Hs.632678 miscrna 1601792 LOC389832 similar to chromosome 2 open reading frame 27 389832 NM_001013654,XM_001133346,CR382287,AK124122 Q6ZVT1,NP_001013676,XP_001133346,BAC85780 Hs.613108 protein-coding 1601791 LOC389834 hypothetical gene supported by AK123403 389834 NM_001013655,XM_001726968,AL354822,AK123403,BC137367 NP_001013677,XP_001727020,BAC85607,AAI37368,Q6ZW97 Hs.660656 protein-coding 1603469 LOC389936 similar to proline-rich proteoglycan 2 389936 Q6ZMV0 NM_001013656,AL355591,AK131480 NP_001013678,BAD18625,Q6ZMV0 Hs.532673 protein-coding 1605191 LOC390637 similar to RIKEN cDNA D330012F22 gene 12477932 390637 NM_001013657,AC091167,CH471101,AK130527,BC127821,BX440248 NP_001013679,EAX02091,EAX02092,BAC85370,AAI27822,Q6ZNW5,AAI48395,AAI53018 Hs.304673 protein-coding 1605189 LOC390667 similar to Neuronal pentraxin II precursor (NP-II) (NP2) 11157797 390667 NM_001013658,AE006467,AL031705,CH471112 NP_001013680,AAK61283,EAW85652,Q96A99,AAI56067,AAI56945 Hs.553770 protein-coding 1603330 LOC391343 similar to CG2839-PA 391343 NM_001013662,AC113607,AK128042 NP_001013684,BAC87246,Q6ZRR3 Hs.467549 protein-coding 1606864 LOC391356 similar to CG14903-PA 12477932 391356 NM_001013663,AC013459,CH471053,BC073803 NP_001013685,EAX00745,AAH73803,Q6GMV3 Hs.406607 protein-coding 1601911 LOC392395 similar to hemicentin 392395 NM_001013664,AL360004,AK128020 NP_001013686,BAC87234,Q6ZRS5 Hs.512559 protein-coding 1604684 LOC399900 hypothetical gene supported by AK093779 14702039 399900 Q8N204 NM_001013667,AP003733,AK093779,BC132894,BC132896 NP_001013689,BAC04223,AAI32895,AAI32897,Q8N204 Hs.528437 protein-coding 1604683 LOC399947 similar to expressed sequence AI593442 12477932 399947 NM_207645,AP000775,CH471065,AB096240,BC035798,BC068577,CR623612 NP_997528,EAW67125,AAH35798,AAH68577,Q6NUJ2 Hs.172982 protein-coding 1601910 LOC400120 hypothetical LOC400120 12477932,12107410 400120 NM_203451,AL136160,CH471075,BC036540,BI544475,CA392022,DC425828 NP_982276,CAM13388,EAX08568,AAH36540,A2A2V5 Hs.422375 MGC33996|RP11-16L6.1 protein-coding 1606862 LOC400451 hypothetical gene supported by AK075564; BC060873 16303743,12477932 400451 NM_207446,AC091544,CH471101,CS051461,AK075564,AL110139,AL110289,BC031970,BC045729,BC060873,BC110328,CR606671 NP_997329,EAX02154,EAX02155,CAI72222,BAC11703,AAH45729,AAH60873,AAI10329,Q2YDA0,Q3ZCQ3 Hs.27373,Hs.702316 MGC102891 protein-coding 1603329 LOC400464 similar to FLJ43276 protein 400464 Q6ZSI0 NM_001013670,XM_942476,AC090825,AK127420 NP_001013692,XP_947569,BAC86971,Q6ZSI0 Hs.187134 protein-coding 1606640 LOC400506 similar to TSG118.1 12477932,10493829 400506 NM_001012991,AC002550,BC047010,BC089430,BC117562,CR594158,CR625565 NP_001013009,AAC05805,AAH89430,AAI17563,Q1ED39 Hs.585209 101F10.1 protein-coding 1606638 LOC400566 hypothetical gene supported by AK128660 12477932 400566 NM_001013672,AC129507,AK128660,BC057385,BC070116,BC141806 NP_001013694,BAC87555,AAH57385,AAH70116,AAI41807,Q6NSI2,Q6PFW9,Q6ZQX7 Hs.499607 protein-coding 1606371 LOC400657 hypothetical LOC400657 14702039,12477932 400657 XR_039913,XR_039912,XR_039914,AC116904,AX877680,AK001853,BC036588,BC132930,BC132956 CAE89832,AAH36588,Q0P633 Hs.61508 FLJ10991 miscrna 1606079 LOC400707 hypothetical gene supported by AK124070 400707 Q6ZVU4 NM_001013673,AC011484,AK124070,BC132839,BC132841 NP_001013695,BAC85766,AAI32840,AAI32842,Q6ZVU4 Hs.534777 protein-coding 1602798 LOC400831 hypothetical LOC400831 14702039,12477932 400831 XM_930959,XM_001724704,XM_943808,NM_001009612,AL031665,AK092524,BC127730,BC127731,BC141955,BC141956 XP_936052,XP_001724756,XP_948901,NP_001009612,CAI21759,AAI27731,AAI27732 Hs.148503 FLJ35205 protein-coding 1602795 LOC400891 similar to chromosome 14 open reading frame 166B 12477932 400891 Q6ZQY2 NM_001013675,AC002472,CH471176,AK128646,BC028231 NP_001013697,EAX02907,BAC87547,Q6ZQY2 Hs.291198 protein-coding 1602619 LOC400924 hypothetical gene supported by AK056895 14702039 400924 Q96MI5 NM_001013676,AC003071,CH471095,AK056895,CR608861 NP_001013698,EAW59856,BAB71303,Q96MI5 Hs.534783 protein-coding 1602616 LOC400986 protein immuno-reactive with anti-PTH polyclonal antibodies 8608414 400986 XM_001717763,XM_001714685,XM_001714165,AC013272,AC073995,AK123626,AL832836,AL832977,U28831 XP_001717815,XP_001714737,XP_001714217,CAI46156,CAH56324,AAB02177,Q5JPF3 Hs.646318 HEM1 protein-coding 1602397 LOC401052 hypothetical LOC401052 14702039 401052 AX882003,NM_001008737,AC022007,CH471055,AK022260,CR614358 NP_001008737,CAE91429,EAW64048 Hs.662766 protein-coding 1605187 LOC401072 hypothetical gene supported by AK125942 401072 Q6ZU73 NM_001013679,AC104633,AK125942 NP_001013701,BAC86353,Q6ZU73 Hs.631904 protein-coding 1604907 LOC401152 HCV F-transactivated protein 1 16344560,16174453,15146197,12477932,8889548 401152 NM_001001701,AC092656,CH471229,AF075061,AK024537,AK025703,AY605045,BC017399,BU739784,CN361054,CR590172,CR597270,CR605135,CR610189,CR616256,DA353224 NP_001001701,EAW73665,AAT35812,AAH17399,Q8WVX3 Hs.173705,Hs.701808 protein-coding 1602154 LOC401233 similar to HIV TAT specific factor 1; cofactor required for Tat activation of HIV-1 transcription 12477932 401233 Q6ZR97 NM_001013680,AL133351,AK128391,BC043429,BX648511 NP_001013702,BAC87416,Q6ZR97 Hs.678041,Hs.441039 protein-coding 1602148 LOC401286 hypothetical gene supported by AK127120 401286 Q6ZSV7 NM_001023565,AL732359,CH471051,AK123853,AK127120 BAC85709,NP_001018859,EAW47492,BAC86839,Q6ZSV7 Hs.487182 protein-coding 1604679 LOC401296 hypothetical protein LOC401296 401296 Q6ZUE6 NM_001024677,AC074389,CH236953,AK125766,BC132760 NP_001019848,EAL23946,BAC86279,AAI32761,Q6ZUE6 Hs.520617 protein-coding 1604427 LOC401351 hypothetical gene supported by BC040831 12477932 401351 XM_926596,XM_379843,XM_935479,BC040831,XM_935792,XM_938438,XM_943672,AC006455,AK128835 XP_931689,XP_379843,Q6ZQP9,XP_940572,XP_940885,XP_943531,XP_948765,BAC87635 Hs.599397 protein-coding 1602027 LOC401357 hypothetical LOC401357 401357 Q6ZRM9,Q6ZUD3 NM_001013685,AC118758,AK125790,AK128114 NP_001013707,BAC86292,BAC87281,Q6ZRM9,Q6ZUD3 Hs.457696 protein-coding 1602025 LOC401398 hypothetical protein LOC401398 14702039 401398 Q8NBE4 NM_001023566,AC019155,AC073322,AC096665,CH236947,AK090675,BX648695 NP_001018860,EAL24323,BAC03501,Q8NBE4 Hs.658551 protein-coding 1601908 LOC401410 hypothetical LOC401410 401410 NM_001008742,AC005692,CH236950,BX648692 NP_001008742,EAL24021 Hs.531393 protein-coding 1604142 LOC401431 hypothetical gene LOC401431 12690205,12477932 401431 Q4G161 NM_001008745,AACC02000041,AC004877,AC093458,CH471146,BC023225,BC028735 NP_001008745,EAL24438,EAW80024,AAH28735,Q4G161 Hs.652227 protein-coding 1601903 LOC401498 similar to RIKEN A930001M12 8889548 401498 NM_212558,AL157884,CH471071,AK125320,BM681172,BX647550,CR749589 NP_997723,EAW58538,EAW58539,BAC86126,CAH56136,CAH18388,Q68D42,Q6ZUU2 Hs.522063 DKFZp686I2292|FLJ43330 protein-coding 1603805 LOC401565 similar to 4931415M17 protein 14702039,12477932 401565 NM_001001710,BX255925,CH471090,AK097419,AY604177,BC132916,BC132918 NP_001001710,EAW88371,EAW88372,BAC05044,AAT36740,AAI32917,AAI32919,Q6J272 Hs.522530 FLJ40100|HSD46 protein-coding 1601787 LOC401589 hypothetical protein LOC401589 14702039 401589 Q8N8P6 NM_001013687,BX322790,AK096379 NP_001013709,CAH70175,BAC04772,Q8N8P6 Hs.553803 protein-coding 1606634 LOC401898 similar to hypothetical protein FLJ38281 16344560 401898 NM_001013691,AC008543,CH471106,AK126753,BC137336,BC137337,BX089669,DA519061,DA919609 NP_001013713,EAW84238,BAC86674,AAI37337,AAI37338,Q6ZTB9 Hs.672384 protein-coding 1605778 LOC402176 similar to 60S ribosomal protein L21 12477932 402176 NM_001011538,AC110792,BC057822 NP_001011538,AAH57822,Q6PEX5 Hs.452943 protein-coding 1602147 LOC402573 hypothetical LOC402573 12690205,12477932 402573 NM_001004323,AC092849,CH236956,BC031966 NP_001004323,EAL23832,AAH31966,Q8IZ16 Hs.632306 protein-coding 1602614 LOC439985 hypothetical gene supported by AK125693 439985 Q6ZUH8 NM_001013696,AC010997,AK125693 NP_001013718,BAC86247,Q6ZUH8 Hs.621975 protein-coding 1605173 LOC440087 hypothetical gene supported by AK092637 14702039,12477932,8889548 440087 NM_001013698,AC007655,CH471094,AK092637,BC132752,BC132754,BM696674,BU735185 NP_001013720,EAW96331,BAC03930,AAI32753,AAI32755 Hs.220931 protein-coding 1605172 LOC440093 histone H3-like 16541075,15489334,12477932 440093 NM_001013699,AC023050,CH471116,AI016942,BC066906 NP_001013721,EAW88541,AAH66906,Q6NXT2 Hs.448697 protein-coding 1604900 LOC440131 similar to bA90M5.1 (novel protein) 440131 NM_001010918,NM_001099778,AL139188,CH471075,BC132810,BC132836 NP_001010918,NP_001093248,CAI17022,EAX08450,Q5TAE0 Hs.132371 protein-coding 1604897 LOC440157 hypothetical gene supported by AK096951; BC066547 12477932 440157 Q6NYL1 NM_001013701,AL589743,BC066547 NP_001013723,AAH66547,Q6NYL1 Hs.659013 protein-coding 1602146 LOC440248 hect domain and RLD 2 pseudogene 15146197,14702039,12477932,10737800,10332034,9205841,15851553 440248 NG_006524,AC055876,AC135348,AF129930,AK056876,AL832775,AW901310,BC047911,BC128548,BE699021,BG957207,BI007057,BM464322,CD722532,CN399000 AAH47911 Hs.531509 pseudo 1602143 LOC440295 hypothetical protein LOC440295 12477932 440295 NM_198181,AC135995,AK128268,BC041854,CR936812 NP_937824,AAH41854 Hs.534900,Hs.657339 protein-coding 1604420 LOC440313 hypothetical gene supported by AK127131 440313 Q6ZSV3 AC087762,AK127131,NM_001013704 NP_001013726,BAC86843,Q6ZSV3 Hs.534903 protein-coding 1602024 LOC440348 similar to nuclear pore complex interacting protein 10493829 440348 NM_001018059,AC002544,AC009053 NP_001018069,AAC27428,O75199,AAI60029 Hs.448833 A-761H5.4 protein-coding 1604418 LOC440350 similar to nuclear pore complex interacting protein 10493829 440350 NM_001018122,XM_001713614,AC002425,AC002544,AC138894 NP_001018132,XP_001713666,AAC05334,AAC27429,O60358,O75200,AAI56859 Hs.652266 A-575C2.4|A-761H5.5 protein-coding 1603803 LOC440570 LOC440570 12477932 440570 A0AVG0,Q6ZUF8 NM_001013708,BX284668,AK125737,BC126340 NP_001013730,BAC86267,AAI26341,A0AVG0,Q6ZUF8 Hs.308060 protein-coding 1606858 LOC440742 hypothetical gene supported by AK124614 440742 Q6ZVG0 NM_001013710,AL590483,AK124614 NP_001013732,BAC85901,Q6ZVG0 Hs.629644 protein-coding 1606628 LOC440836 similar to MGC52679 protein 8038210,12477932,12107413,8889548 440836 NM_001014440,AW291097,BC127934,BC127935,BM973820,CD674272,S72487 NP_001014440,AAI27935,AAI27936,AAD14106,AAD14107,Q16192,Q16193 Hs.531314 protein-coding 1606362 LOC440905 hypothetical protein LOC440905 12477932 440905 XM_001723708,BC132696,XM_001722749,XM_001722847,AC018865,CH471103,AK125921,BC132694 AAI32695,AAI32697,Q6ZU82,XP_001723760,XP_001722801,XP_001722899,EAW95363,BAC86344 Hs.469918 protein-coding 1606360 LOC440925 hypothetical gene supported by AK123485 440925 Q6ZW80 NM_001013712,AC007405,AK123485,BC132926,BC132928 NP_001013734,BAC85625,AAI32927,AAI32929,Q6ZW80 Hs.668461 protein-coding 1603140 LOC440957 similar to CG32736-PA 14702039,12477932,8889548 440957 XM_001717970,XM_001718706,XM_001716881,NM_001124767,AC112215,CH471055,AK095910,BC017996,BG031013,BM674004 XP_001718022,XP_001718758,XP_001716933,NP_001118239,EAW65238,AAH17996,Q8WVI0 Hs.660577 small nucleolar rna host gene (non-protein coding) 8 protein-coding 1606065 LOC441046 glucuronidase, beta pseudogene 12477932 441046 NR_003675,AC139713,BC025996 AAH25996 Hs.135705 pseudo 1602945 LOC441070 similar to FLJ44076 protein 441070 Q6ZWE7 NM_001013715,AC116331,AK123203 NP_001013737,BAC85556,Q6ZWE7 Hs.121853 protein-coding 1605775 LOC441108 hypothetical gene supported by AK128882 14702039 441108 NM_001013717,AC116366,CH471062,AK096941,AK128882,BC130299,BC130656 NP_001013739,EAW62333,EAW62334,EAW62335,EAW62336,BAC04907,AAI30300,AAI30657,Q8N8D9 Hs.658288 protein-coding 1602793 LOC441120 similar to LOC285679 protein 14702039 441120 Q8NA96 NM_001013718,AC136604,AK093042 NP_001013740,BAC04030,Q8NA96 Hs.631949 protein-coding 1602792 LOC441150 similar to RIKEN cDNA 2310039H08 12477932 441150 NM_001008739,AL035587,AX061662,BC051007,BC060325,BC073804,BC094854 NP_001008739,CAC25022,AAH60325,AAH73804,AAH94854,Q5I0X4 Hs.571098 protein-coding 1602791 LOC441177 hypothetical protein LOC441177 14702039,12477932 441177 Q8N9P0 NM_001013720,AL132661,AK094116,BC110806 NP_001013742,BAC04291,AAI10807,Q8N9P0 Hs.645482 MGC131672 protein-coding 1605482 LOC441208 hypothetical gene supported by AK094370 14702039,12477932 441208 NR_003502,AC018645,AK094370,BC126382,BC126384 BAC04341,AAI26383,AAI26385,A0AVJ1,Q8N9J2 Hs.510645 pseudo 1605480 LOC441257 hypothetical LOC441257 12477932 441257 Q2TAP3,Q86WY7 BC110795,NM_001023562,AC005488,BC047594 AAI10796,Q2TAP3,Q86WY7,NP_001018856,AAH47594 Hs.571275,Hs.645327 MGC131642 protein-coding 1602612 LOC441268 hypothetical gene supported by BC044942 441268 Q6ZUZ7 NM_001013725,AC079781,AK125166 NP_001013747,BAC86069,Q6ZUZ7 Hs.668620 protein-coding 1605478 LOC441294 similar to CTAGE6 12477932 441294 NM_001008747,AC073264,CH236959,BC146818 NP_001008747,EAL23792,AAI46819,Q3ZCM5,AAI50315 Hs.450233 MGC167090 protein-coding 1604889 LOC441476 hypothetical protein LOC441476 14702039,12477932 441476 AK097565,BC033939,BC050094,BC132726,DB453255,NM_001004353,BX255925,CH471090 EAW88376,BAC05104,AAH33939,AAI32727,Q8N7X2,NP_001004353,EAW88374,EAW88375 Hs.372640 FLJ40246 protein-coding 1601679 LOC441956 similar to cDNA sequence BC021523 441956 NM_001013729,XM_498859,AL050303,AK125677 Q6ZUI3,NP_001013751,XP_498859,BAC86242 Hs.535148 protein-coding 1604414 LOC492311 similar to bovine IgA regulatory protein 12477932 492311 NM_001007189,AC011379,CH471062,AB073888,BC017422,BC041380,CD516511 NP_001007190,EAW62075,AAH17422,A6NJ69 Hs.696360 protein-coding 1603792 LOC493869 similar to RIKEN cDNA 2310016C16 12975309,12477932 493869 NM_001008397,AC091977,CH471123,AK074216,AY358715,BC029424,BX537894,BX647770,CR620005,CR623605 NP_001008398,EAW54908,EAW54909,BAB85019,AAQ89077,AAH29424,Q8TED1 Hs.289044 UNQ847 protein-coding 1625849 LOC4951 parvalbumin This gene is similar to the oncomodulin gene, a high-affinity calcium ion-binding protein that belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. 12853948,12583602,12477932,11329013,9847074,9405492,8611623,8354278,8077283,4005827,3558395,3179268,2306116,1559707,15489334,15610002 4951 NM_006188,AC004967,CH236956,CH471091 NP_006179,AAQ96880,EAW76722,AAI56842 Hs.510456 GDB:132239 OCM protein-coding 1605475 LOC497190 secretory protein LOC497190 12975309 497190 NM_001011880,XM_001722792,AC009053,AY358373 NP_001011880,XP_001722844,AAQ88739,Q6UXF7 Hs.556045 protein-coding 1606294 LOC51035 SAPK substrate protein 1 10942595,15944415,15761153,15489334,15362974,14702039,12477932,17353931 51035 CQ834654,AK054832,BC000902,BC001372,BC032689,BC040129,CR590579,CR593998,CR599375,CR603413,CR603968,CR621110,CR623424,CR626110,M68864,NM_015853,AP001458,CH471076 EAW74065,EAW74066,EAW74067,CAH05542,AAH00902,AAH01372,AAH32689,AAH40129,AAA36396,Q04323,Q05BV2,NP_056937,EAW74061,EAW74062,EAW74063,EAW74064 Hs.351296 2B28 protein-coding 1603046 LOC51057 hypothetical protein LOC51057 14702039,12477932,9110174,8619474 51057 NM_015910,NM_001042692,AC009501,AC016734,AC067953,AC074367,AC079353,CH471053,AF131737,AK001849,AK022647,AK055030,AL833623,BC093752,BC093754,BX538331,BX647132 NP_056994,NP_001036157,AAY24358,AAX93096,AAX93089,AAY24034,EAW99964,EAW99965,AAD20026,AAH93752,AAH93754,CAD98100,O95876,Q53RX9,Q53S85,Q53TG5 Hs.414952 DKFZp686C12204 protein-coding 1606005 LOC51149 hypothetical LOC51149 16381901,15489336,15146197,14702039,12477932,11230166,11076863 51149 BC002739,BC050714,BC056889,BC069051,BF965313,BQ642639,BX537968,BX647375,CN363239,CR936785,AK125253,NM_001017987,NM_016175,AC008393,CH471165,AF153685,AK095057 BAC86101,AAH02739,AAH69051,CAD97932,Q0JSP7,Q6NTE8,Q6PGQ0,Q6ZUW7,CAL37424,CAL38467,NP_001017987,NP_057259,EAW53784,EAW53785,AAD51611 Hs.310781 DKFZp686L2452|MGC65027|MGC78537 protein-coding 1602719 LOC51233 hypothetical protein LOC51233 15461802,12477932,11230166 51233 NM_016449,AP000346,CH471095,AL080197,BC056888,BC063390,CR456370 NP_057533,EAW59585,EAW59586,EAW59587,CAB75693,AAH56888,AAH63390,CAG30256,Q6PGQ1 Hs.517466 MGC33025|MGC75009 protein-coding 1605679 LOC51252 hypothetical protein LOC51252 16344560,12477932,11042152 51252 NM_016490,NM_001122646,AC079395,AC092636,CH471207,AF151068,AJ710728,AK122705,BC038583,BC039488,BC051379,BI826484,DA357118 NP_057574,NP_001116118,AAY14968,EAW71321,EAW71322,EAW71323,AAF36154,AAH38583,AAH39488,AAH51379,Q8IXR5 Hs.107922 protein-coding 1604809 LOC54103 hypothetical protein LOC54103 16341674,14702039,12690205,12477932 54103 NM_017439,AC004921,AC073635,CH236949,AK026696,AK026747,AK027188,AK126364,AL079277,AL079297,AL834358,BC101499,BC110797,BM842423,DB498013 NP_059135,EAL24201,CAB45152,CAB45193,CAD39023,AAI01500 Hs.186649 DKFZp667B242|MGC126548 protein-coding 1605155 LOC541469 hypothetical protein LOC541469 12477932 541469 BC025257,CR625148,NM_001013617,AC011479,CH471126,AK027130 BAB15669,AAH25257,NP_001013639,EAW56768 Hs.660510 protein-coding 1605154 LOC541473 FK506 binding protein 6, 36kDa pseudogene 12477932 541473 NR_003602,AC006014,BC022013,BC067783,BC070189 AAH22013,AAH67783,AAH70189,Q6NSF3 Hs.645394 MGC88170 pseudo 1604878 LOC550631 hypothetical LOC550631 12477932 550631 NM_001017437,AC004997,BC018040,BC092419,BC119799,BC127255,CR936833 NP_001017437,AAH92419,AAI19800,AAI27256,Q569K6 Hs.505597 protein-coding 1606057 LOC552891 hypothetical protein LOC552891 12477932,7665596 552891 NM_004125,AL135787,CH471105,BC015391,BT007068 NP_004116,CAI12405,EAW59082,EAW59086,AAH15391,AAP35731,ABM85627 Hs.534196 protein-coding 1605150 LOC553158 PRR5-ARHGAP8 fusion The PRR5-ARHGAP8 mRNA is an infrequent naturally co-transcribed product of the neighboring PRR5 and ARHGAP8 genes. This rare transcript encodes a fusion protein which contains domains characteristic of a RhoGAP protein. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. 12477932,10591208 553158 NM_181334,Z93244,Z98743,AF195968,AF195969,AL355192,AW673723,BC132755,BC132757 NP_851851,CAO03396,CAQ06715,CAQ06716,CAQ09258,AAK58136,AAK58137,CAB90248,AAI32756,AAI32758 Hs.102336 ARHGAP8 protein-coding 1605752 LOC554235 hypothetical protein LOC554235 12477932,8889548 554235 NM_001024656,NM_001114598,AC008743,CH471135,BC066359,BM695973,BM924033,BU729215 NP_001019827,NP_001108070,EAW71878,EAW71879,EAW71880,EAW71881,EAW71882,EAW71883,AAH66359,A6ND91,Q6NZ37 Hs.436338 protein-coding 1607022 LOC55908 hepatocellular carcinoma-associated gene TD26 12975309,12477932 55908 NM_018687,AC011472,CH471106,AF271350,AY358356,BC113823 NP_061157,EAW84185,EAW84186,AAF76204,AAQ88722,AAI13824,Q29RX7,Q6UXH0,AAI41564,AAI46553 Hs.534467 PRO1185|PVPA599 protein-coding 1607014 LOC57228 small trans-membrane and glycosylated protein 14702039,12477932 57228 NM_001033873,NM_020467,AC046135,AC139768,CH471111,AF091087,AK001839,BC001400,BC003379,BC008712,BC045658,BC120965,BC120966,BG740791,CA776511,CR456943,CR597407,CR602520,CR607073,NM_001031628,CR614963,CR619854,CR620025 NP_001026798,NP_001029045,NP_065200,EAW58183,EAW58184,EAW58185,AAC72956,AAH03379,AAH08712,AAI20966,AAI20967,CAG33224,O95332,Q0VAQ4 Hs.652389 MGC149453|MGC149454 protein-coding 1606516 LOC63920 transposon-derived Buster3 transposase-like 12477932,10607616 63920 NM_022090,AC091842,AF205598,CH471062,AA728782,AK026754,BC032603,BC112128,BC112130,BM457021,BM903536,BQ959342,CR612548 Q9UH87,Q9H5S8,NP_071373,AAF18452,EAW61557,EAW61558,EAW61559,EAW61560,BAB15542,AAH32603,AAI12129,AAI12131,Q8IZ13 Hs.529464 protein-coding 2292182 LOC63930 hypothetical LOC63930 12477932,11780052 63930 XR_040056,XR_039301,XR_039231,AK128329 BAC87386,Q6ZRC6 Hs.664005 FLJ46471 miscrna 1603422 LOC643406 hypothetical protein LOC643406 12477932 643406 XM_926741,XM_939269,AL121757,AK125948,BC031676 XP_931834,XP_944362,BAC86356,AAH31676,Q6ZU70,Q8N5R8 Hs.431161 MGC35023 protein-coding 1605139 LOC728621 hypothetical protein LOC728621 16710767 728621 BX640642,DC397297,NM_001080850,AC098484,AL138788,AL445669,AK024625,AL832217,AY639646 CAE45789,Q5VVM6,Q6N081,Q9H7F6,NP_001074319,CAH70752,CAH70753,BAB14936,AAX19141 Hs.709801 FLJ20972|PFD6L|PFDN6L protein-coding 1625094 LOC730092 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 12477932,9110174,8619474 730092 XR_015784,NM_145237,NR_003370,AC092375,AF001549,AF054994,AK126166,BC006441,BC009198,BC068999,BC070157,BC112115,BC112117 NP_660280,AAC27822,AAI12116,AAI12118,Q2M238 Hs.31290,Hs.348979,Hs.658149 MGC138320|MGC138322 pseudo 1601954 LOC81691 exonuclease NEF-sp 11256614,16381901,15489336,14702039,12477932,11230166,11076863,10493829 81691 NM_030941,AC004381,CH471228,AF332193,AL136763,AL162035,BC007646,BC068503,CR621882 NP_112203,AAC31668,EAW66838,EAW66839,EAW66840,EAW66841,AAK17192,CAB66697,CAB82386,AAH07646,AAH68503,Q96IC2,CAL37723 Hs.177926 DKFZp434J0315 protein-coding 1603288 LOC88523 CG016 14702039,8812419 88523 Q6ZV26,Q96KV2,Q9Y3H6 AK093514,AL049802,CR596312,U50529,NM_033111,AL137247,AL353665 CAB42563,Q6ZV26,Q96KV2,Q9Y3H6,NP_149102,CAI13193 Hs.507680 protein-coding 1601836 LOC90826 hypothetical protein BC004337 14702039,12477932 90826 AC093835,CH471056,AK096703,AK128483,AK292904,AL137452,BC004337,BC021250,BC064403,NM_138364 NP_612373,EAX05011,EAX05012,EAX05013,EAX05014,BAC87459,BAF85593,CAB70744,AAH04337,AAH21250,AAH64403,Q6P2P2 Hs.591692 FLJ46629 protein-coding 1603940 LOC90835 hypothetical protein LOC90835 12477932 90835 NM_001014979,AC106886,CH471192,AL122109,BC042548,BC063391,BC073881,BC092491,BC128128,BC128129,CR598994 NP_001014979,EAW52201,EAW52202,EAW52203,EAW52204,EAW52205,EAW52206,AAH92491,AAI28129,AAI28130,A1A4V9 Hs.65735 MGC104706 protein-coding 1605900 LOC91431 prematurely terminated mRNA decay factor-like 14702039 91431 NM_001099776,AC023886,AK090556,AK126054,AL137700,BX647594 NP_001093246,BAC86416,CAB70881,Q6ZU11 Hs.444338 protein-coding 1605897 LOC91461 hypothetical protein BC007901 15489334,12477932 91461 NM_138370,AC013480,CH471053,BC007901,BC062988,BC094697,BC110513,BC110514,CR598769,CR600688 NP_612379,EAX00325,EAX00326,AAH07901,AAH62988,AAH94697,AAI10514,AAI10515,Q504Y2 Hs.408542 MGC125960 protein-coding 1603596 LOC92270 hypothetical protein LOC92270 14702039,12477932 92270 NM_001017971,AC010598,CH471084,AK022625,AK094973,BC093982,BC112191 Q52LC2,NP_001017971,EAW95889,EAW95890,AAH93982,AAI12192 Hs.364045 MGC138396 protein-coding 1604252 LOC93349 hypothetical protein BC004921 16344560,14702039,12477932 93349 NM_138402,AC009949,CH471063,AK023116,AU130836,BC004921,BC105007,BQ232706,BQ690359,CR987282,DB240458,DW428200 NP_612411,AAX88869,EAW70924,EAW70925,EAW70926,BAB14413,AAH04921,AAI05008,Q9H930 Hs.662198 MGC132667 protein-coding 2292120 LOC93622 hypothetical LOC93622 12477932 93622 BC006130,BC021542,BC026970,BC040997,BC066911,BC073972,CR606044,CR616401,XR_017848,XR_041372,XR_017952,AC093323,CH471131,AK026375 AAH21542,AAH26970,AAH40997,AAH66911,Q8WU25,EAW82385 Hs.700719,Hs.705429 miscrna 1323359 LOH11CR2A loss of heterozygosity, 11, chromosomal region 2, gene A 1302758,1580863 15489334,14504409,12477932,9417908,8889548 1302758 4013 AY366506,AY366507,AY366508,BC001234,BT006655,CB243896,CR599674,NM_014622,NM_198315,AP000818,AY366501,CH471065,AF002672,AK291698,AY366503,AY366504,AY366505 AAQ94874,AAQ94875,AAQ94876,AAH01234,AAP35301,O00534,NP_055437,NP_938057,AAQ94867,AAQ94868,AAQ94869,EAW67570,EAW67571,EAW67572,EAW67573,AAB60942,BAF84387,AAQ94871,AAQ94872,AAQ94873 Hs.152944 GDB:6886174 BCSC-1|BCSC1 protein-coding 1316927 LOH12CR1 loss of heterozygosity, 12, chromosomal region 1 16189514,15284860,12477932,11896457 118426 NM_058169,AC007619,AC007621,CH471094,CQ783014,AK075028,AY037865,AY037866,BC013668 NP_477517,EAW96257,EAW96258,EAW96259,EAW96260,CAF86221,BAC11360,AAK71328,AAK71329,AAH13668,Q969J3,ABM82704,ABM85888 Hs.504805 GDB:11506203 LOH1CR12 protein-coding 1602607 LOH12CR2 loss of heterozygosity, 12, chromosomal region 2 15284860,11896457 503693 AY037867,CH471094 AAK71330,EAW96256,Q96QS4 Hs.67553 LOH2CR12 protein-coding 1352245 LOH18CR1 loss of heterozygosity, 18, chromosomal region 1 9718349 23703 GDB:9864938 1347476 LOH19CR1 loss of heterozygosity, 19, chromosomal region 1 9241274 8378 GDB:9837482 1353466 LOH1CR1 loss of heterozygosity, 1, chromosomal region 1 8377 GDB:9864937 1347210 LOH3CR2A loss of heterozygosity, 3, chromosomal region 2, gene A 15489334,15474036,14702039,12918109,12477932,12452030,11780420 29931 NM_013343,AC087859,CH471055,AF086709,AK054898,BC009773,BC016278 NP_037475,EAW63939,AAD45398,AAH16278,Q9Y6C7 Hs.591661 GDB:10795445 ERR-10|ERR10|NAG-7|NAG7 protein-coding 734453 LONP1 lon peptidase 1, mitochondrial This gene encodes a mitochondrial matrix protein in the Lon family of ATP-dependent proteases. A similar E. coli protein regulates gene expression by targeting specific regulatory proteins for degradation. This protein binds a specific sequence in the light and heavy chain promoters of the mitochondrial genome which are involved in regulation of DNA replication and transcription. 633879,1580724,1580863 8248235,18174225,18021745,17420247,15683722,15489334,14739292,14702039,12657466,12477932,12198491,12082077,9485316,8666383,8119403,7961901 633879,1580724 9361 NM_004793,AC011499,AF059296,AF059309,CH471139,AK056366,AK096433,AK096626,AK127867,AL096720,BC000235,BC109218,BC109219,BC139726,CR591602,CR603800,U02389 NP_004784,AAD24414,EAW69151,EAW69152,EAW69153,EAW69154,BAC04829,AAH00235,AAI09219,AAI39727,AAA61616,P36776,Q2VPA0,Q8N8K8,Q9BSN5,ABM83881,ABM87201 Hs.350265 GDB:9956065 LON|LONP|LonHS|MGC1498|PIM1|PRSS15|hLON protease, serine, 15 protein-coding 1605609 LONP2 lon peptidase 2, peroxisomal 14561759,14702039,12477932,15870080 83752 NM_031490,AC007600,AC023818,CH471092,AJ548761,AK027544,AK027666,AK074775,AK090452,AK127125,AK130091,AK172790,AL834201,BC002916,BC004234,BC093910,BC093912,BC110434,CR604191,CR619746 NP_113678,EAW82723,EAW82724,EAW82725,CAD68987,BAB55278,BAC11201,BAC03433,BAD18769,CAD38889,AAH02916,AAH04234,AAH93910,AAH93912,AAI10435,Q6ZMF9,Q86WA8,Q8NF29,Q9BU35 Hs.706828 LONP|LONPL|MGC4840 protein-coding 1605309 LONRF1 LON peptidase N-terminal domain and ring finger 1 15489334,14702039,12477932 91694 NM_152271,AC123777,CH471080,AA017498,AA284268,AI004802,AK074329,BC004538,BC106042,BC117381,BC117385,BQ718281,CR597701,CR598718 NP_689484,EAW63860,BAB85052,AAH04538,AAI17382,AAI17386,Q17RB8 Hs.180178 FLJ23749|RNF191 protein-coding 1604220 LONRF2 LON peptidase N-terminal domain and ring finger 2 15489334,14702039,12477932 164832 NM_198461,AC104782,CH471127,AK056373,AK094044,AK123836,AK124739,AK127206,AK128715,AL157505,BC101662,BC101664,BF436808,CR590043,DQ020495 NP_940863,EAX01846,EAX01847,EAX01848,EAX01849,BAC86883,AAI01663,AAI01665,AAY84832,Q1L5Z9 Hs.21380 FLJ45273|MGC126711|MGC126713|RNF192 protein-coding 1351493 LONRF3 LON peptidase N-terminal domain and ring finger 3 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. 15772651,15761153,15489334,14702039,12477932,8744354 79836 NM_001031855,NM_024778,AL772284,CH471161,AK026265,AK091777,AK097641,AK290198,BC098283,BC099847,BC100671,BC103491 NP_001027026,NP_079054,CAI41519,CAI41520,EAW89885,EAW89886,EAW89887,EAW89888,BAB15419,BAC03744,BAF82887,AAH99847,AAI00672,AAI03492,Q496Y0,Q4QQH4,Q5JPN5 Hs.144266 FLJ22612|MGC119463|MGC119465|RNF127 ring finger protein 127 protein-coding 1347914 LOR loricrin This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases. 1580863 8673107,8274037,8248167,7592852,1355480,15598222,15102081,12615358,12477932,12200429,12072018,11703298,11443109,10798362,10066784,9690138,9326398,9326323,8999895,10908733,2007607,18166499,17953701 4014 NM_000427,AB013076,AL161636,CH471121,M94077,BC034690,BC108290,CR536555,M61120 NP_000418,BAA25794,CAI19560,EAW53339,AAA36181,AAH34690,AAI08291,CAG38792,AAA36180,O60354,P23490,Q5T869,Q5XKF8,Q6FHY3 Hs.251680 GDB:132049 MGC111513 protein-coding 736846 LOX lysyl oxidase The protein encoded by this gene is an extracellular copper enzyme that initiates the crosslinking of collagens and elastin. The enzyme catalyzes oxidative deamination of the epsilon-amino group in certain lysine and hydroxylysine residues of collagens and lysine residues of elastin. In addition to crosslinking extracellular matrix proteins, the encoded protein may have a role in tumor suppression. 1580835,1581883,1581895,1581887,1581881,1581896,1581899,1581885,1581886,1581902,1580863 1357535,1352776,1685472,15609325,17849172,17673218,17616686,17395448,16642001,16533769,16440329,16357151,16251195,16023247,15843371,15489334,15374948,15273433,15137057,15110773,12820424,12750963,12686141,12577300,12477932,12452073,12101112,11916256,11807790,11675877,11642359,10391127,9111998,8636146,8442432,8100215,8082810,7902322,7706256,6912069,6147899,6144680,6127904,3120785,2874833,2863189,1683640 1580835,1581883,1581895,1581887,1581881,1581896,1581899,1581885,1581886,1581902 4015 NM_002317,AC010255,AF039290,AF270645,CH471086,L16895,M84150,AF039291,BC074820,BC074872,BC089436,M94054,S45875,S78694 NP_002308,AAD10703,AAK58603,EAW48898,AAA16870,AAA59541,AAD02130,AAH74820,AAH74872,AAH89436,AAA59525,AAB23549,AAB21243,P28300,Q71V04,Q96PQ9 Hs.102267 GDB:119367 MGC105112 protein-coding 1312479 LOXHD1 lipoxygenase homology domains 1 737633 17353931,14702039,12477932 737633 125336 XM_001713754,XM_001713756,XM_001713755,AC018931,AC064800,AC091139,CH471088,AK057232,AK127869,BC041860,BC047720,BX647229 XP_001713806,XP_001713808,XP_001713807,EAX01477,EAX01478,EAX01479,EAX01480,BAB71390,BAC87169,AAH41860,AAH47720,Q8IVV2 Hs.345877 FLJ32670|LH2D1 protein-coding 1318705 LOXL1 lysyl oxidase-like 1 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. 1580863 7689553,18483563,18450598,18421074,18385788,18385063,18334947,18334928,18332326,18287813,18282488,18254956,18223248,18201684,18037624,18036875,17999374,17891191,17690259,17287949,16842595,16251195,15489334,15086544,14550642,12686136,12577300,12477932,11642359,10773658,7706256,14745449,17690546 4016 NM_005576,AC108137,U24389,AL529650,BC015090,BC068542,CR598332,CR618115,L21186 NP_005567,AAA68940,AAH15090,AAH68542,AAA50162,Q08397,Q6NUL3,ABM84257 Hs.65436 GDB:228067 LOL|LOXL protein-coding 1318201 LOXL2 lysyl oxidase-like 2 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. 1580863 9079631,17287949,16540748,16096638,16023247,15489334,14702039,12820424,12686136,12670920,12477932,11642359,11162352,10212285,9722957,9373149,8125298 4017 NM_002318,AC090197,AC104561,CH471080,AF117949,AK098436,AK124508,AK222477,BC000594,BC020481,CR611797,U89942 NP_002309,EAW63625,EAW63626,EAW63627,AAD34343,BAD96197,AAH00594,AAB49697,Q53HV3,Q9Y4K0,ABM83611,ABM86855 Hs.626637,Hs.661130 GDB:9032958 LOR2|WS9-14 protein-coding 1322239 LOXL3 lysyl oxidase-like 3 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. 1580863 11284725,17287949,17018530,16096638,12686136,12477932,11642359,11386757,11334717 84695 AF311313,BC033130,BC071865,DQ378059,NM_032603,AC005033,AC005041,CH471053,AF282619,AF284815 AAK63205,AAH33130,AAH71865,ABD23013,P58215,Q2EHP2,Q53TY1,Q6IPL7,Q8N505,NP_115992,AAX93223,EAW99615,EAW99616,AAK51671,AAK91134 Hs.591563 GDB:11506205 LOXL protein-coding 1318447 LOXL4 lysyl oxidase-like 4 This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. 1580863 18202753,17671119,17287949,17081983,15489334,14702039,14551188,12894545,12686136,12477932,11691589,11691588,16189514,11292829 84171 AL139241,CH471066,AF338441,AF395336,AK025542,AK172781,AY036093,BC007522,BC013153,BC015656,BC035470,W44920,NM_032211 NP_115587,CAH72819,EAW49886,AAK71934,AAL27543,BAB15167,BAD18762,AAK64186,AAH07522,AAH13153,Q5W0B3,Q96JB6,ABM81993,ABM85175 Hs.306814,Hs.671890 GDB:11506207 FLJ21889|LOXC protein-coding 1343679 LPA lipoprotein, Lp(a) 1580863 9269765,8047165,9548923,18479303,18464913,18386550,18163888,18086931,17975119,17942087,17923276,17908332,17845920,17683612,17603063,17569884,17537433,17478739,17462619,17460176,17145597,16893192,16840570,16625232,16497311,16403785,16202171,16197951,16150826,16122830,16113787,16053196,15983325,15905467,15708348,15654123,15543335,15523644,15515480,15479125,15258620,15041277,14746139,12940514,14718574,12578871,12562843,12482643,12359323,12220441,12127051,12111551,12082592,11999088,11947970,11865151,11833851,11822583,11816712,11485023,11440434,11332648,11294842,11285247,11126727,10980194,10672142,10484779,10187779,10073957,9717723,9111002,8864963,8642595,7918682,3670400,3410459,2531657,2530631,12738397 4018 NM_005577,AF158656,AF158657,AF158661,AF158663,AL109933,AL596089,CH471051,DQ452068,AY039748,X06290 NP_005568,AAF03677,AAF03676,AAF03679,AAF03680,CAI22905,CAH73590,EAW47596,ABF47086,AAK74187,CAA29618,P08519,Q1HP67,Q5VTD7,Q8N696,Q9UD88,Q9UIR5,Q9UIR6,Q9UIR8,Q9UKJ7 Hs.520120 GDB:120699 AK38|APOA|LP protein-coding 1346284 LPAL1 lipoprotein, Lp(a)-like 1 7679504 4019 GDB:138303 1601956 LPAL2 lipoprotein, Lp(a)-like 2 Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. The protein encoded by this gene is secreted and is structurally similar to apolipoprotein(a), although apolipoprotein(a) contains many kringle domain repeats while this protein contains only a single kringle domain. Kringle domains have been shown to mediate protein-protein interactions. Two transcript variants encoding the same protein have been found for this gene. 16344560,12477932,7749817,7679504,2268308,1554698,1454851 80350 NM_145727,NM_024492,AL591069,CH471051,L07899,M62890,M86877,M86878,M90078,M90079,AK125910,BC110570,DB312928,U19517,U19518 NP_663779,NP_077818,EAW47597,EAW47598,AAB66587,AAA36454,AAB49909,AAA51749,AAA35547,AAA35546,BAC86341,AAA85692,AAA85693,Q16609,Q6ZU85,AAI66644 Hs.654503 GDB:138304 APOA2|APOAL|APOARGC|MGC129532|RP11-72O9.2 protein-coding 731581 LPAR1 lysophosphatidic acid receptor 1 The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene 1580863,1626474,1626471 8922387,9804623,12761501,9070858,18325907,18089805,18006645,17923111,17531530,17496233,16809448,16716145,16263766,15755723,15489334,15292052,15208267,14702039,14696401,14688263,12670925,12668728,12477932,12393875,12123830,11948806,11093753,9893266,9600933,9069262 1626474,1626471 1902 NM_001401,NM_057159,AC007157,AL157881,AL442064,CH471105,AK022808,AK290287,AY322546,BC030615,BC036034,BC073167,BI461641,U78192,U80811,Y09479 NP_001392,NP_476500,CAH69979,EAW59068,EAW59069,BAF82976,AAP84359,AAH30615,AAH36034,AAH73167,AAC00530,AAC51139,CAA70686,CAA70687,Q5T261,Q5VZX0,Q6GPG7,Q92633 Hs.126667 GDB:9837415 EDG2|GPR26|Gpcr26|LPA1|Mrec1.3|VZG1|edg-2|rec.1.3|vzg-1 protein-coding 1312931 LPAR2 lysophosphatidic acid receptor 2 This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. 1580863 14688263,9525886,16203867,9804623,17965021,17765657,17496233,16904289,16344560,16341674,15755723,15728708,15535846,15489334,15143197,15057824,14702039,12759391,12668280,12477932,12123830,11093753,11024010,10954727,10922489,10818441,10729222,10537322,16189514 9170 NM_004720,AC002306,AC011458,CH471106,AF011466,AF197929,AF233092,AK123043,AK316573,AU133824,AY322548,BC025695,BM840024,CR598581,CR623876 NP_004711,AAB61528,EAW84836,EAW84837,AAC27728,AAG28521,AAF43409,BAG38162,AAP84361,AAH25695,Q9HBW0 Hs.122575 GDB:9955161 EDG-4|EDG4|FLJ93869|LPA2 protein-coding 1323219 LPAR3 lysophosphatidic acid receptor 3 This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. 1580914,1580863,1626471,1626474 10488122,18006645,17923111,15489334,15292052,12884281,12668280,12623301,12477932,12123830,11982483,11093753,10891327,10727522 1580914,1626471,1626474 23566 NM_012152,AC104169,CH471097,AF127138,AF186380,AF236117,AK308283,AY322547,BC126268,BC126270,BU633960 NP_036284,EAW73222,AAD56311,AAF00530,AAF91291,AAP84360,AAI26269,AAI26271,Q9NRB8,Q9UBY5 Hs.674915 GDB:10443471 EDG7|Edg-7|FLJ98231|GPCR|HOFNH30|LP-A3|LPA3|RP4-678I3 protein-coding 1350247 LPAR4 lysophosphatidic acid receptor 4 1580863 12724320,12477932,11004484,9223435,9073069,16335952,15772651,15489334 2846 AF005419,AL590083,AY301274,CH471104,U66578,U90323,BC069996,BC074722,BC095538,U90322,NM_005296 NP_005287,AAB66322,CAD18851,AAP58404,EAW98596,AAC51301,AAB62087,AAH69996,AAH74722,AAH95538,AAB62088,Q99677 Hs.522701 GDB:3789428 GPR23|LPA4|P2RY9|P2Y5-LIKE|P2Y9|gpr23 g protein-coupled receptor 23 protein-coding 1348840 LPAR5 lysophosphatidic acid receptor 5 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 16774927,16651401,15489334,12477932,12044878,11574155,11062477 57121 NM_020400,AB083600,AC135892,AF411112,CH471116,CQ859776,AB041943,AJ272207,BC033571,BC072394 NP_065133,BAB89313,AAL26483,EAW88776,CAH25938,BAD83597,CAC03715,AAH33571,AAH72394,Q5KU18,Q9H1C0,ABM83823,ABM87144,EAW88775 Hs.155538 GDB:11503398 GPR92|GPR93|KPG_010|LPA5 protein-coding 1602676 LPCAT1 lysophosphatidylcholine acyltransferase 1 Lysophosphatidylcholine (LPC) acyltransferase (LPCAT; EC 2.3.1.23) catalyzes the conversion of LPC to phosphatidylcholine (PC) in the remodeling pathway of PC biosynthesis (Nakanishi et al., 2006 [PubMed 16704971]).[supplied by OMIM] 18156367,16704971,15489334,14702039,12693554,12477932,9110174,8619474 79888 AC026748,AC091849,CH471102,AB244719,AF052162,AF530061,AK022499,AK022505,AK090444,AK095552,AL831864,BC002543,BC020166,BQ961819,BU539058,CR601379,CR624021,NM_024830 NP_079106,EAX08154,EAX08155,EAX08156,BAE94688,AAQ09945,BAB14061,BAB14065,BAC03425,CAD38556,AAH20166,Q8NF37,AAI40368 Hs.368853 AYTL2|FLJ12443|PFAAP3|lpcat acyltransferase like 2 protein-coding 1606279 LPCAT2 lysophosphatidylcholine acyltransferase 2 17182612,16704971,15489334,14702039,12477932 54947 NM_017839,AC007336,AC026802,CH471092,AB244718,AJ420584,AK000488,BC002472,BX641069 NP_060309,EAW82829,BAF47696,BAA91199,AAH02472,CAE46034,Q7L5N7 Hs.460857 AYTL1|DKFZp686H22112|FLJ20481|LysoPAFAT protein-coding 1353817 LPGAT1 lysophosphatidylglycerol acyltransferase 1 Acyl-CoA:lysophosphatidylglycerol (LPG) acyltransferase catalyzes the reacylation of LPG to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin (Yang et al., 2004 [PubMed 15485873]).[supplied by OMIM] 1580863 10942595,15489334,15485873,12477932,9637538,9039502 9926 NM_014873,AC096637,AL445488,CH471100,AY561706,BC034621,CR613115,D86960 NP_055688,EAW93407,EAW93408,AAS66979,AAH34621,BAA13196,Q5T1V4,Q92604 Hs.654626 FAM34A|FAM34A1|NET8 protein-coding 1348408 LPGAT1P1 lysophosphatidylglycerol acyltransferase 1 pseudogene 1 404667 1351682 LPGP1 lipogenic protein 1 4021 GDB:698474 733163 LPHN1 latrophilin 1 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. 1580863 15203201,15489334,15144186,15066411,14702039,12477932,11520923,10994649,10964907,10048485 22859 BC007587,BC013275,BC019928,BC028296,BC052627,BC072445,BC090949,NM_001008701,AB065919,AC011509,AC022098,CH471106,AB020628,AF307079,AK022001,BC002974,NM_014921 AAH02974,AAH07587,AAH19928,AAH28296,O94910,Q9HAA0,NP_055736,NP_001008701,BAC06134,EAW84404,EAW84405,EAW84406,EAW84407,EAW84408,EAW84409,BAA74844,AAG27461,BAB13950 Hs.654658 CIRL1|CL1|LEC2 cl1ba protein protein-coding 732054 LPHN2 latrophilin 2 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. While several transcript variants have been described, the biological validity of only one has been determined. 1580863 15203201,10030676,17456239,16710414,15066411,11520923,10964907,10760572,9872452,8889548 23266 AJ244492,AJ244493,AJ244494,AJ244495,AJ244496,AJ244497,AJ244498,AJ244499,AJ244500,AJ244501,AJ244502,AJ244503,AJ244504,AJ244505,AJ244506,AJ244507,AJ244508,AJ244509,AJ244510,AJ244511,AJ244512,AJ244513,AJ244514,AJ244515,AJ244516,AL157903,AL358939,AL359705,CH471059,NM_012302,AC113949,AJ242517,AJ242518,AB018329,AF104266,AF104938,AF104939,AJ131581,AK123422,BM983870,CR596199,CR621974,DQ925675 CAB60229,CAB60201,CAB60202,CAB60203,CAB60204,CAB60205,CAB60206,CAB60207,EAX06321,EAX06322,EAX06323,EAX06324,EAX06325,NP_036434,EAX06326,EAX06327,EAX06328,EAX06329,EAX06330,EAX06331,EAX06332,EAX06333,EAX06334,EAX06335,EAX06336,EAX06337,EAX06338,EAX06339,EAX06340,EAX06341,BAA34506,AAD54675,AAD54676,AAD54677,CAA10458,ABL59902,O95490,Q5T9D2,Q5VX75,Q5VX77,Q5VX78,Q5VX79,Q5VX80,Q5VX81,Q5VX82,Q5VX83,Q9UJ48,Q9UJ49,Q9UJ50,Q9UJ51,Q9UJ52 Hs.24212 CIRL2|CL2|LEC1|LPHH1 protein-coding 1353351 LPHN3 latrophilin 3 This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. 10994649,15203201,15066411,14702039,12477932,11520923,10964907,9872452,9847074,7937745 23284 NM_015236,AC007511,AC020741,AC092663,AC092668,AC096723,AC104813,AC108161,CH471057,AB018311,AK000781,AK094703,BC039452,T10303 NP_056051,AAY40992,EAX05525,EAX05526,EAX05527,EAX05528,EAX05529,EAX05530,BAA34488,BAA91375,Q4W5J9,Q9HAR2 Hs.28391,Hs.694758 CIRL3|LEC3 protein-coding 1316957 LPIN1 lipin 1 This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mouse studies suggest that this gene functions during normal adipose tissue development and may also play a role in human triglyceride metabolism. 1580863,1641826,1641822 11138012,18437145,18070763,17950103,17940119,17563064,17105729,17035674,17003347,16950137,16467296,16357106,15489334,14702039,12477932,12111372,11792863,10884287,10644441,8724849 1641826,1641822 23175 AF147446,AI379040,AK127039,AK290235,AL357194,NM_145693,AC012456,CH471053,BC018071,BC030537,BI459149,CR749806,D80010 EAX00920,BAF82924,NP_663731,AAY14695,EAX00918,EAX00919,AAH30537,CAH18666,BAA11505,Q14693,Q53T25,Q68CS2,ABM85602 Hs.467740 GDB:9785097 DKFZp781P1796|KIAA0188 1643262,1643271 BW207_H,BW214_H protein-coding 1312114 LPIN2 lipin 2 Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. 1580863 17804763,17081983,15994876,15862761,11138012,10884287,9039502,2722772 9663 NM_014646,NG_007507,AP000919,AP005431,CH471113,BC152448,BQ014306,D87436 NP_055461,EAX01686,EAX01687,AAI52449,BAA13380,Q92539 Hs.132342 GDB:9785360 KIAA0249 protein-coding 1342644 LPIN3 lipin 3 Humans lipodystrophy is characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. Mice carrying mutations in the fatty liver dystrophy (fld) gene have similar phenotypes. Through positional cloning, the mouse gene responsible for fatty liver dystrophy was isolated and designated Lpin1. The nuclear protein encoded by Lpin1 was named lipin. Lpin1 mRNA was expressed at high levels in adipose tissue and was induced during differentiation of preadipocytes. These results indicated that lipin is required for normal adipose tissue development and provided a candidate gene for human lipodystrophy. Through database searches, mouse and human EST and genomic sequences with similarities to Lpin1 were identified. These included two related mouse genes (Lpin2 and Lpin3) and three human homologs (LPIN1, LPIN2, and LPIN3). Human LPIN1 gene has been mapped to 2p25.; linkages of fat mass and serum leptin levels to this same region have been noted. Human LPIN2 and LPIN3 mapped to chromosomes 18p11 and 20q11-q12, respectively. The mouse genes encoding Lpin1, Lpin2, and Lpin3 mapped to chromosome 12, 17, and 2, respectively. 1580863 11780052,11138012,10884287 64900 NM_022896,AL031667,AL132654,CH471077,BC140806,BX505800,BX647082,BX648609 NP_075047,CAI42978,CAI42979,CAI21064,CAI21065,EAW75985,EAW75986,AAI40807,Q9BQK8 Hs.528618 GDB:11506209 LIPN3L|SMP2|dJ450M14.2|dJ450M14.3|dJ620E11.2 protein-coding 70836 LPL lipoprotein lipase LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. 1580533,1580536,1580537,1580539,1302535,1300048,1580863,1302536,1556571,1578729,1580535,1556752,1357916 16822320,16813599,16799404,16776623,16770077,16763159,16755277,16741292,16702309,16651467,16635607,16630553,16552397,16544732,16542392,16534528,16519597,16517593,16466345,16460718,16451134,16449872,16446009,16431216,16430904,16419488,16418216,16416313,16378107,16369102,16364275,16357806,16353345,16344560,16343038,16256241,16253639,16205020,16195478,16179346,16168296,16142021,16141008,16135440,16132104,17560523,17555736,17535427,17533471,17517063,17487735,17484619,17476032,17473385,17436307,17428620,17374417,17356047,17347923,17342071,17328917,17318300,17311894,17299379,17299085,17291198,17244606,17163816,17157861,17137217,17130180,17072956,17058522,17032721,17029199,17006673,17001213,16989840,16965549,16926441,16896939,16894468,16864937,16840197,16837242,1969408,10727238,10085125,18449420,18354102,18336668,18325076,18275964,18275685,18223635,18193043,18187430,18068174,18020971,17997385,17939375,17919884,17903299,17855807,17848837,17761930,17727701,17726453,17721767,17717288,17706445,17705673,17700364,17681919,17662793,17653444,17652898,17644777,17620184,17615573,17587400,17568951,17562973,16829344,16122151,16106048,16086925,16030523,16029634,16015281,16013913,15994321,15979432,15961789,15939061,15928243,15896905,15878772,15858619,15857159,15802535,15795426,15793775,15764642,15749185,15721013,15699916,15696473,15657615,15637076,15608561,15562208,15545743,15543643,15489334,15386377,15356086,15331147,15292372,15292370,15270617,15257172,15256516,15253101,15221136,15202783,15189363,15155715,15135251,15127290,15115692,15076187,15060087,15051515,15019539,14988305,14988233,14984315,14967813,14764824,14702039,14693718,14669227,14660566,14581156,14580165,14580156,14570890,14564687,14553962,12966036,12964943,12919138,12915220,12905705,12889841,12876415,12866915,12865761,12862202,12818414,12793009,12782148,12777470,12747600,12746411,12740382,12732844,12708905,12704407,12701046,12042669,11996946,11947965,11921083,11899831,11897170,11893778,11893776,11852057,11834518,11796709,11796707,11730816,11714860,11714857,11711487,11702219,11702052,11683775,11680797,11605530,11593500,11579204,11534394,11533368,11500192,11484171,11441189,11427211,11395037,11341749,11316129,11284423,11229437,11205691,11194013,11171287,11140837,11132601,11126401,11096142,11073182,10660334,10391209,9719626,9662394,9519338,9430364,9401010,12690214,9374130,9373149,9298816,9183545,8956048,8567671,8486765,8449037,8325986,8308035,8301230,8288243,8144523,8135797,8125298,8096693,7989348,7906986,7818530,7806969,7713910,7686151,7647785,7592875,7510694,3823907,3692485,3515966,3355847,2701938,2536938,2349938,2340307,2294743,12687649,12679477,12655575,12647273,12636935,12573449,12544508,12514935,12501246,12483461,12477932,12446192,12408999,12370850,12230584,12226739,12208477,12174215,12164879,12133567,12133533,12117735,12107736,12082592,12044583,2243796,2121025,2110364,2038366,2010533,1975597,1907278,1752947,1737848,1731801,1730727,1702428,1674945,1639392,1619366,1598907,1576758,1537564,1521525,1511985,1479292,1406652,1400331,1371284,1281473,12755701 1580533,1580536,1580537,1580539,1302535,1302536,1556571,1578729,1580535,1556752,1357916 4023 AC100802,AC107964,AF050163,AY092405,CH471080,DQ083390,M76722,S76076,S76077,X68111,AK092286,AK222464,AK290290,BC011353,NM_000237,BT006726,CR457054,CR605471,DA485210,M15856,X14390,X54516 NP_000228,AAC61679,AAM23256,EAW63764,AAY85371,AAA59528,AAB21000,AAB20999,CAA48230,BAD96184,BAF82979,AAH11353,AAP35372,CAG33335,AAB59536,CAA32564,CAA38372,P06858,Q4JIZ7,Q53HW6,Q6IAV0,Q71UV2,Q8NEW3,ABM84467,ABM84677 Hs.180878 GDB:120700 HDLCQ11|LIPD 2289455 BW300_H protein-coding 1320729 LPO lactoperoxidase 1580863 8964511,16740002,15894800,15489334,15384204,12626341,12584448,12477932,10828600,10814547,9030719,2222811 4025 NM_006151,AC004687,AC005962,AY324876,CH471109,AF027971,AK131496,BC107167,BX487327,BX538344,BX648309,EF579964,M58151,U39573,BC107166 NP_006142,AAP72968,EAW94474,EAW94475,AAG38481,AAI07167,AAI07168,CAD98107,ABQ53140,AAA63213,AAC50717,P22079,Q6ZMT5,Q7Z2Y6,Q9H3M1,BAD18640 Hs.234742 GDB:128964 MGC129990|MGC129991|SPO protein-coding 1321494 LPP LIM domain containing preferred translocation partner in lipoma 1580863 17322171,16738319,16484626,16397143,16375854,16271958,16094384,15649318,15592455,15144186,15951569,12760907,12615977,12522270,12505264,12441356,12063392,11433529,11329013,11066083,10637295,9772904,8812423,7670494 4026 AC022498,AC055711,AC063932,AC069226,AC069430,AC117507,CH471052,U49968,AL833171,BC130584,BG192042,CR457074,U29116,U49957,NM_005578,A52566,A79998,AC009319 EAW78127,EAW78128,EAW78129,EAW78130,EAW78131,EAW78132,EAW78133,EAW78134,AAC50739,AAI30585,CAG33355,AAC50738,Q93052,NP_005569,CAA03407,CAB59169 Hs.444362 GDB:1391795 protein-coding 1604322 LPPR2 lipid phosphate phosphatase-related protein type 2 14750979,14702039,12477932,9373149,8125298 64748 NM_022737,AC024575,CH471106,AK023117,AK094869,AK225482,AL353953,AY304516,AY339628,BC009378,CR936652 NP_073574,EAW84200,EAW84201,EAW84202,EAW84203,BAB14414,BAC04443,CAH10684,AAP72153,AAQ73540,AAH09378,Q69YU8,CAI56790,ABM84418,ABM87435,ABW03584,ABW03585 Hs.6846 DKFZp761E1121|FLJ13055|PRG-4 protein-coding 1605099 LPPR4 plasticity related gene 1 The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. 12730698,12477932,12069809,9455484 9890 AL136147,AL139425,CH471097,AB007924,AF357013,AF541281,AK291369,AL834390,AY304518,BC041386,BC042963,NM_014839 Q7Z2D5,Q86XM6,AAI48349,NP_055654,EAW72991,EAW72992,BAA32300,AAO85400,AAP57770,BAF84058,CAD39052,AAP72155,AAH41386,AAH42963,Q3ZCT6 Hs.13245 GDB:9958347 KIAA0455|LPR4|PHP1|PRG-1|PRG1|RP4-788L13.1 protein-coding 1312734 LPXN leupaxin The product encoded by this gene is preferentially expressed in hematopoietic cells and is most homologous to the focal adhesion protein, paxillin. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by tyrosine kinase activity. 1580863 9565592,17640867,17329398,16189514,16094384,15786712,15592455,15489334,15144186,12674328,12477932,10604475,9373149,8125298 9404 NM_004811,AP001350,AP003557,CH471076,AF062075,AK223165,BC007490,BC019035,BC034230,CR536531,CR591836,CR612739 NP_004802,EAW73807,EAW73808,EAW73809,AAC16014,BAD96885,AAH19035,CAG38768,O60711,Q53FW6,Q6FI07,ABM83631,ABM86880 Hs.125474 GDB:11500571 LDPL protein-coding 68515 LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy. 1599754,1580863 9920938,17438524,17011878,16939223,16115871,15489334,15474300,15161698,14704332,14596594,14581364,12477932,12009892,11381255,11162450,11133845,10819989,9767084,1322170,16189514 1599754 9227 NM_004744,AC009567,CH471056,AF071510,AK125823,AK292598,AY546085,AY546086,BC031053 NP_004735,EAX04904,AAD13529,BAC86306,BAF85287,AAS49412,AAS49413,AAH31053,O95237,Q6ZUB9 Hs.658427 GDB:9955494 MGC33103 protein-coding 1322886 LRBA LPS-responsive vesicle trafficking, beach and anchor containing Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449).[supplied by OMIM] 1580863 17353931,17081983,15554694,14702039,12477932,12160729,11254716,1505956 987 NM_006726,AC079794,AC092544,AC092612,AC093748,AC097373,AK098039,AK098552,AK122920,BC012535,BC064834,BT007180,BX537552,CR749633,M83822,AC104796,AC110813,CH471056,AB208838,AF216648,AF217149,AF467287,AK026483 NP_006717,AAY40984,AAH12535,AAH64834,AAP35844,CAH18427,AAB09603,P50851,Q4W5J4,Q4W5L6,Q59HC1,Q68D03,Q6P1X2,Q8NFQ0,Q969R7,AAY40973,EAX04996,BAD92075,AAG48558,AAG48559,AAM53530 Hs.480938 GDB:131404 BGL|CDC4L|DKFZp686A09128|DKFZp686K03100|DKFZp686P2258|FLJ16600|FLJ25686|LAB300|LBA|MGC72098 protein-coding 1313845 LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1 18049793,16891653,16447229,12477932,12168954,10231032 23143 NM_015116,AL136958,AL138704,AL359880,CH471075,AB023233,AK292898,AY050631,AY050632,BC026097,BC112937,BC117472 NP_055931,CAI12229,EAX08766,BAA76860,BAF85587,AAK95567,AAK95568,AAH26097,AAI12938,AAI17473,Q17R43,Q2KHR1,Q5VX26,Q5VX27,Q8TAR8,Q9Y2L9 Hs.656722 CHDC1|KIAA1016 protein-coding 1354195 LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 15772651,14702039,12477932,10819331 57631 NM_020871,AL121878,AL445164,AL589786,CH471120,AB040928,AK022128,BC042004,BC125223,BC125224,BG541540,BX647193,CR623574 NP_065922,CAI42077,EAX02617,EAX02618,BAA96019,BAB13966,AAI25224,AAI25225,Q08AD5,Q5VUJ6 Hs.65366 KIAA1495|MGC150671|dA204F4.4 protein-coding 1314681 LRCH3 leucine-rich repeats and calponin homology (CH) domain containing 3 737633 15489334,15324660,14702039,12477932 737633 84859 NM_032773,AC055764,AC144530,CH471252,AK024647,AK055819,AK125235,AK128758,AL137527,BC007504,BC008625,BC010565 NP_116162,EAW92242,EAW92243,EAW92244,EAW92245,BAC87602,CAB70791,AAH07504,AAH10565,Q6ZQT1,Q96II8,ABM84194,ABM87597 Hs.518414,Hs.659335 FLJ20994|FLJ43245|FLJ44976|MGC4126 protein-coding 1314592 LRCH4 leucine-rich repeats and calponin homology (CH) domain containing 4 This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. 1580863 9799793,16449650,17081983,16189514,15489334,14702039,12690205,12477932 4034 NM_002319,AC069281,AF053356,CH236956,CH471091,AF459638,AK074175,AK074833,AK097420,AK128189,BC007634,BC018529,BC046135,BG722226,CR597686,CR605636,CR610208 NP_002310,AAC78793,EAL23828,EAW76519,EAW76520,AAQ04768,BAB85001,BAC87318,AAH07634,AAH18529,O75427,Q6ZRJ2,Q71M45,ABM84491,Q8TEE9,ABM85166 Hs.125742,Hs.633863 FLJ40101|FLJ46315|LRN|LRRN1|LRRN4|PP14183|SAP25 protein-coding 1323429 LRDD leucine-rich repeats and death domain containing The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 15073321,18238895,17637755,17437012,17329820,17159900,16982033,16652156,16360037,16189514,15489334,15146197,14702039,12477932,10973264,10825539 55367 NM_018494,NM_145886,NM_145887,AP006621,CH471158,AB208832,AB208949,AB209529,AF229178,AF274972,AF465246,AK074893,AL833849,BC014904,BG723687,BQ214414,BQ924290,BX349115,CN427944,CN427946 NP_060964,NP_665893,NP_665894,EAX02390,EAX02391,EAX02392,BAD92069,BAD92186,BAD92766,AAF69491,AAG13461,AAP97716,BAC11272,CAD38708,AAH14904,Q9HB75,ABW03662 Hs.592290 GDB:11500572 DKFZp434D229|MGC16925|PIDD protein-coding 1345231 LRE1 LINE retrotransposable element 1 4029 Q15606 GDB:127349 1353895 LRE2 LINE retrotransposable element 2 7920631 4030 Q12881 U09116 GDB:374005 1350031 LRE3 LINE retrotransposable element 3 8393568 4031 GDB:215604 1346612 LRE4 LINE retrotransposable element 4 4032 GDB:215611 1312309 LRFN1 leucine rich repeat and fibronectin type III domain containing 1 16828986,12477932,10819331 57622 NM_020862,AC011445,CH471126,AB040917,BC014678,BC025310,BC040681 NP_065913,EAW56872,BAA96008,AAH14678,AAH25310,Q96C50,Q9P244 Hs.97860 KIAA1484|SALM2 protein-coding 1323493 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 1580863 16828986,16495444,14574404,12477932,10574462 57497 NM_020737,AL033380,AL359475,AL591063,CH471081,AB033072,AK291474,BC109041,BC109042,BC142616 NP_065788,CAI15264,EAX04006,BAA86560,BAF84163,AAI42617,Q32MP6,Q9ULH4 Hs.250015 FIGLER2|KIAA1246|RP11-535K1.2|SALM1 protein-coding 1313671 LRFN3 leucine rich repeat and fibronectin type III domain containing 3 737633,1580863 17081983,16828986,16495444,15489334,14702039,12975309,12477932 737633 79414 NM_024509,AF038458,AK172754,AY358127,BC003578 NP_078785,BAD18740,AAQ88494,AAH03578,Q9BTN0,ABM84598,ABM86751 Hs.143792 FIGLER1|MGC2656|SALM4 protein-coding 1350359 LRFN4 leucine rich repeat and fibronectin type III domain containing 4 737633 16828986,16495444,15489334,12477932 737633 78999 NM_024036,AP003176,CH471076,BC000207,BC007718,BC014040,BC015581,BC027475,BC071866,BC094813,CR601830,CR615886,AB209005 NP_076941,EAW74573,EAW74574,AAH00207,AAH07718,AAH14040,AAH15581,AAH27475,AAH71866,AAH94813,Q4VBZ3,Q59GV4,Q6IPL6,Q6PJG9,Q6PK41,Q7L3C2,Q8N644,BAD92242 Hs.209979,Hs.708978 FIGLER6|MGC3103|SALM3|SALM3. protein-coding 1319662 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 1580863 16828986,14702039,12477932 145581 NM_152447,AL109662,AL121821,AL138498,CH471078,AK055365,AK096627,AL832129,BC043165 NP_689660,EAW65799,BAB70910,AAH43165,Q96NI6 Hs.136893 C14orf146|DKFZp686G0210|FIGLER8|FLJ30803|SALM5 protein-coding 1349039 LRG1 leucine-rich alpha-2-glycoprotein 1 The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002 [PubMed 12223515]).[supplied by OMIM] 1580863 12223515,14718574,3856868,17194537,16740002,16699948,16335952,15489334,15221005,14760718,12477932,11801638 116844 NM_052972,AC011498,CH471139,AB073607,AF403428,AK027382,BC034389,BC070198,CR592045,CR598914,CR613381 NP_443204,EAW69211,BAD38644,AAK95527,AAH34389,AAH70198,P02750,Q68CK4 Hs.655559 HMFT1766|LRG protein-coding 1603904 LRGUK leucine-rich repeats and guanylate kinase domain containing 14702039,12690205,12477932 136332 NM_144648,AC008154,AC018646,CH236950,CH471070,AK057348,BC038800,BC104897,BC104899 NP_653249,EAL24072,EAW83807,BAB71441,AAI04898,AAI04900,Q96M69 Hs.149774 FLJ32786 protein-coding 1315602 LRIG1 leucine-rich repeats and immunoglobulin-like domains 1 18037903,17851870,17624990,17178829,16877544,16168117,15489334,15345710,15282549,14520461,12684867,12477932,12234026,12067728,11414704,8798419 26018 NM_015541,AC092034,AC099665,AC126122,CH471055,AB050468,AF381545,AK126745,AL117666,AY730707,BC014276,BC071561,CR626564 NP_056356,EAW65452,EAW65453,BAB40659,AAK62357,CAB56036,AAU44786,AAH14276,AAH71561,Q5XWD3,Q96JA1 Hs.518055 GDB:11510382 DKFZP586O1624|LIG-1|LIG1 protein-coding 1319957 LRIG2 leucine-rich repeats and immunoglobulin-like domains 2 1580863 18037903,15592455,15203213,15145052,14702039,12477932,9872452 9860 NM_014813,AL357055,CH471122,AB018349,AK074825,AK123606,AK291031,AL161998,BC017961,BC117368,BC117370,CR936669 NP_055628,CAH73254,EAW56556,EAW56557,BAA34526,BAF83720,CAB82328,AAI17369,AAI17371,O94898 Hs.448972,Hs.696605 DKFZp451C181|KIAA0806|LIG2 protein-coding 1347856 LRIG3 leucine-rich repeats and immunoglobulin-like domains 3 18037903,16532360,15203213,14702039,12975309,12477932 121227 NM_153377,AC078963,CH471054,AK074921,AK130083,AK292857,AL833710,AY358288,AY358295,AY505340,BC012380,BC126169,BC126171 NP_700356,EAW97094,EAW97095,BAC11295,BAF85546,AAQ88655,AAQ88662,AAR98629,AAI26170,AAI26172,Q6UXM1 Hs.253736 FLJ26573|FLJ90440|KIAA3016|LIG3 protein-coding 736558 LRIT1 leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 633658,1580863 17081983,10777785 633658 26103 NM_015613,AC022389,CH471142,AB031547,AL080175 NP_056428,EAW80359,BAA95681,CAB45761,Q9P2V4,AAI40297 Hs.226000 DKFZP434K091|FIGLER9|LRRC21|PAL leucine rich repeat containing 21 protein-coding 1352534 LRIT2 leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 340745 NM_001017924,AC022389,AC022394,AL603756,CH471142,BX648524 NP_001017924,EAW80360,A6NDA9 Hs.450425 LRRC22 protein-coding 1605227 LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 12477932 345193 NM_198506,AC005509,CH471057,AK126648,BC104037 NP_940908,EAX06256,BAC86628,AAI04038,Q3SXY7 Hs.308127 FIGLER4|FLJ44691|MGC120618 protein-coding 1343006 LRMP lymphoid-restricted membrane protein The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. 1580863 8021504,8798562,18299280,16410263,15489334,12477932,9314557,8889548 4033 NM_006152,AC023510,CH471094,AI949664,AW408383,BC029391,BC100277,BC126417,BG505192,BM466207,BQ220483,BQ420905,BU679233,CR601375,U10485 NP_006143,EAW96503,EAW96504,EAW96505,AAH29391,AAI26418,AAA21604,A0AVM2,Q12912 Hs.124922 GDB:9375096 JAW1 protein-coding 1316786 LRP1 low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor) 1625030,1581910,1581921,1625022,1581913,1625012,1358747,1581911,1580863 3266596,2779654,10880251,18317248,18288927,18277139,18194421,18166789,18156630,18037995,17974965,17942912,17908054,12069755,11992244,11931574,11907044,11867643,11861214,11854294,11823454,11729193,11720768,11705989,11600564,11560994,11479307,11436125,11421580,11359936,11279011,11248808,11158305,11100124,11076057,11006321,10827173,10772929,10747918,10652313,10632583,10608878,10514495,10471328,10318830,9837937,9820815,9804823,9782078,9295345,9252371,9051770,9045716,9045712,8806749,17711877,17709443,17694066,17620659,17570828,17203175,17155964,17124247,17012232,16956829,16929535,16839343,16821592,16807059,16697011,16606588,16567404,16459332,16407289,16402284,16362633,16335952,16328515,16175004,16102056,16088940,16040006,15944146,15925094,15863833,15800028,15772078,15769472,15749709,15705932,15705569,15647823,15634227,15591119,15328156,15294142,15288502,15272003,15231748,15226301,15135046,15131125,15048651,15044004,15001579,14991768,14980518,14739301,14702039,14699139,14645246,14597676,14593097,14585398,12960961,12888553,12857755,12821648,12807892,12793904,12789267,12750160,12732394,12713657,12672816,12637503,12555245,12531796,12522212,12522143,12477932,12473559,12417024,12412500,12402342,12394648,12393177,12212791,12194978,12169628,17889283,8703036,8546712,8307199,7989348,7961982,7721852,7543026,7534747,7510694,7508685,2597675,2548950,2112085,1718973,1702392,1698775,1502153,1464627,1423505,1377168,1374383,1281473,16697675,15264223 1625030,1581910,1581921,1625022,1581913,1625012,1358747,1581911 4035 NM_002332,AC023237,AC137628,AC137834,AF058427,CH471054,DQ314873,X15424,Y18524,Y18525,AB209498,AF370375,AK122840,BC021204,BC045107,BC052593,BC072015,BU502641,X13916,X55077 NP_002323,AAC64265,EAW96990,EAW96991,ABC40732,CAA33464,CAD57169,CAA77211,BAD92735,AAQ15211,AAH21204,AAH45107,AAH52593,AAH72015,CAA32112,CAA38905,Q07954,Q59FG2,Q6LAF4,Q6LBN5,Q71RG2,Q7Z7K9,Q86SW0 Hs.162757 GDB:119694 A2MR|APOER|APR|CD91|FLJ16451|IGFBP3R|LRP|MGC88725|TGFBR5 protein-coding 1321391 LRP10 low density lipoprotein receptor-related protein 10 9110174,8889548,8619474,15498874,15489334,12975309,12766061,12477932,11123907 26020 CD677124,CF125793,CR457151,CR598563,CR618984,CR624152,CR626435,AL135998,CH471078,AF131760,AF172816,AF177336,AK291030,AL080164,AL110149,AL834518,AY358399,BC000424,BC018816,BC064901,BC080648,BC088378,BC113714,BC113716,BG699535,BX161500,NM_014045 CAD61944,CAG33432,Q5I0F9,Q66K21,Q6IAK3,Q7Z4F1,NP_054764,EAW66232,EAW66233,EAW66234,EAW66235,AAD20037,AAQ13610,AAG17980,BAF83719,CAB45753,CAD39174,AAQ88765,AAH64901,AAH80648,AAH88378,AAI13715,AAI13717 Hs.525232 GDB:11510162 DKFZP564C1940|LRP9|MGC142274|MGC142276|MGC8675|MST087|MSTP087 protein-coding 1318469 LRP11 low density lipoprotein receptor-related protein 11 15489334,14702039,14574404,12477932,9373149,8125298 84918 NM_032832,AL355312,CH471051,AK027641,AK223134,BC016788,BC025239,BC043141 NP_116221,CAH72865,CAH72866,EAW47784,EAW47785,BAB55257,AAH16788,AAH25239,AAH43141,Q53FZ7,Q86VZ4,Q96AT3 Hs.408355,Hs.642734 FLJ14735|MANSC3|MGC39092|bA350J20.3 protein-coding 1312675 LRP12 low density lipoprotein-related protein 12 This gene was identified by its differential expression in cancer cells. The product of this gene is predicted to be a transmembrane protein. The level of this protein was found to be lower in tumor derived cell lines compared to normal cells. This gene was thus proposed to be a candidate tumor suppressor gene. 1580863 12809483,9927190,15489334,14702039,14676824,12477932,9921901 29967 NM_013437,AC087370,AC090827,AP002847,CH471060,CS265759,AB208957,AF064841,AF166350,AK022991,AK289752,BC017381,BC032109,CR749434 NP_038465,EAW91895,EAW91896,EAW91897,EAW91898,CAJ78400,BAD92194,AAD44360,BAB14350,BAF82441,AAH17381,AAH32109,CAH18272,Q59H02,Q68DE8,Q8WVX8,Q9H983,Q9Y561,ABM83249,ABM86451 Hs.654804 DKFZp781F1053|FLJ12929|ST7 protein-coding 1314617 LRP1B low density lipoprotein-related protein 1B (deleted in tumors) LRP1B belongs to the low density lipoprotein (LDL) receptor gene family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands (Liu et al., 2001 [PubMed 11384978]).[supplied by OMIM] 1580863 10766186,17227771,16918994,16095885,15963947,15172977,15166012,15126508,14702039,12194987,12004004,11384978,11031110 53353 AC010740,AC012003,AC012353,AC068195,AC068287,AC068943,AC073319,AC078882,AC079585,AC087056,AC092156,AC092575,AC093039,AC093859,AC108036,AC110087,AC110770,AC117947,AF283327,AF283328,AF283329,AF283330,AF283331,AF283332,AF283333,AF283334,AF283335,AF283336,AF283337,AF283338,AF283339,AF283340,AF283341,AF283342,AF283343,AF283344,AF283345,AF283346,AF283347,AF283348,AF283349,AF283350,AF283351,AF283352,AF283353,AF283354,AF283355,AF283356,AF283357,AF283358,AF283359,AF283360,AF283361,AF283362,AF283363,AF283364,AF283366,AF283367,AF283368,AF283369,AF283370,AF283371,AF283372,AF283373,AF283374,AF283376,AF283377,AF283378,AF283379,AF283380,AF283381,NM_018557,AF283382,AF283383,AF283384,AF283385,AF283386,AF283387,AF283388,AF283389,AF283390,AF283391,AF283392,AF283393,AF283394,AF283395,AF283396,AF283397,AF283398,AF283399,AF283400,AF283401,AF283402,AF283403,AF283404,AF283405,AF283406,AF283407,AF283408,AF283409,AF283410,AF283411,AF283412,AF283414,AF283415,AF283416,CH471058,AB209707,AF176832,AK054663 NP_061027,AAY14689,AAX88846,AAX93243,AAY24318,AAX93075,AAX93103,AAY15024,AAX81990,AAX88911,AAX93208,AAY24167,AAX88968,AAL38107,AAL38108,AAL38109,AAL38110,AAL38111,AAL38112,EAX11602,BAD92944,AAF70379,BAB70786,Q4ZFV5,Q4ZG53,Q53QM8,Q53QP5,Q53RA0,Q53RG4,Q53RL0,Q53S26,Q53S73,Q53S76,Q53TB8,Q580W7,Q59EV4,Q8WY26,Q8WY27,Q8WY28,Q96NT6,Q9NZR2 Hs.656461 GDB:10796371 LRP-DIT|LRPDIT protein-coding 68599 LRP2 low density lipoprotein-related protein 2 Lipoprotein receptor-related protein-2 (LRP2), also called glycoprotein-330 or megalin (Farquhar, 1995 [PubMed 7657789]), is part of the Heymann nephritis antigenic complex with RAP (LRPAP1; MIM 104225) (Farquhar et al., 1995 [PubMed 7579068]) and is a member of a family of receptors with structural similarities to the low density lipoprotein receptor (LDLR; MIM 606945).[supplied by OMIM] 1580863,1641843,1641827,1641836,1641842,1641839,1641847 9773776,14528014,7768901,2786251,18174661,18070591,17979745,17632512,17555532,17457342,16828734,16713569,16344560,16174284,15670845,15134832,14657389,12879166,12768436,12723989,12713445,12707383,12508107,12107412,11994745,11912251,11717447,11595644,11421580,11278724,11274227,11158855,11095640,10982792,10827173,10772929,10769163,10753646,10364184,10330424,10203351,10073957,9837937,9727058,9655248,9492085,9334227,9071320,8898021,8710893,8706697,8344937,8187828,7959795,7686151,7657789,7579068,7512726,1382088 1641843,1641827,1641836,1641842,1641839,1641847 4036 AY265358,CD673312,DA200673,DA339827,DA401915,S73145,U04441,U33837,NM_004525,AC007556,AC008178,AF065440,CH471058,AY265357 AAP88586,AAB30825,AAB02882,AAB41649,P98164,Q4ZG84,Q53TL0,Q7Z5C0,Q7Z5C1,Q9NP34,NP_004516,AAX88965,AAY24266,AAC17129,EAX11280,AAP88585 Hs.657729 GDB:335364 DBS|gp330 low density lipoprotein receptor-related protein 2 protein-coding 1601755 LRP2BP LRP2 binding protein 12508107,15809689,10718198 55805 NM_018409,AC073344,CH471056,AB037746,AK126913,AL161975,BC150161,BC152444 NP_060879,EAX04649,EAX04650,BAA92563,CAB82313,AAI50162,AAI52445,Q9P2M1 Hs.558513 DKFZp761O0113|FLJ44965 protein-coding 733839 LRP3 low density lipoprotein receptor-related protein 3 633319,1580863 9693042,16303743,15489334,14702039,12477932,11390366,7959795 633319 4037 NM_002333,AC008738,AB009462,AF085860,AK074751,AK126750,AK129963,BC007408,CR602048,DR002806 NP_002324,BAA32330,BAC86671,BAC85262,AAH07408,O75074,ABW03838 Hs.515340 GDB:9835144 protein-coding 731744 LRP4 low density lipoprotein receptor-related protein 4 68762,1580863 16554811,16344560,15489334,12477932,12421765,9693030 68762 4038 NM_002334,AC021573,CH471064,AB011540,AB084910,AB231861,AK027175,BC037360,BC041048,BC136667,BC136668,DA799511,DB061460 NP_002325,EAW67974,EAW67975,BAA32468,BAD83615,BAE19679,AAH37360,AAH41048,AAI36668,AAI36669,O75096,Q4AC85,Q5KTZ5 Hs.4930 GDB:9836965 KIAA0816|LRP10|MEGF7 protein-coding 1319617 LRP5 low density lipoprotein receptor-related protein 5 1599835,1625350,1580863,2293188,2293491 9714764,10049586,9790987,18455228,18418639,18406176,18349089,18285546,18073493,18058054,18044981,18026682,17972053,17953969,17700537,17680723,17505772,17307038,17306638,17276019,17241106,17229572,17223614,17202888,17137849,17087607,17086708,17052975,17002572,16958596,16956801,16772034,16723389,16679074,16631011,16622736,16613987,16513652,16355283,16234968,16168727,16115379,15981244,15979013,15923613,15908424,15824861,15824851,15781005,15777745,15619672,15355556,15346351,15231748,15221492,15201508,15084453,15077203,15024691,14735475,14731402,14727154,12817748,12700977,12581525,12579474,12509515,12477932,12054167,12015390,11793484,11741193,11719191,11516963,11448771,11401438,11336703,9831343,9199553,16754270,8659519,7775583 1599835,1625350,2293188,2293491 4041 NM_002335,AF283320,AF283321,AP000807,AP002813,CH471076,AA279383,AA953315,AB017498,AF064548,AF077820,AF088027,BC098397,BC150595 NP_002326,AAK52433,EAW74705,EAW74706,BAA33051,AAC36467,AAC72791,AAI50596,O75197,Q9UES7 Hs.6347 GDB:9836818 BMND1|EVR1|EVR4|HBM|LR3|LRP7|OPPG|OPS|OPTA1|VBCH2 1643405 BMD9_H protein-coding 1606195 LRP5L low density lipoprotein receptor-related protein 5-like 12477932 91355 NM_182492,AL022324,CH471095,AL137651,BC091519,BC137460,BC137463,BC139736 NP_872298,EAW59690,AAI37461,AAI37464,AAI39737,A4QPB2 Hs.710309 DKFZp434O0213 protein-coding 1312373 LRP6 low density lipoprotein receptor-related protein 6 The LRP6 gene encodes a member of the low density lipoprotein receptor (LDLR) gene family, which consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. LDLR proteins are comprised of the same basic structural motifs: an extracellular domain that contains LDLR binding repeats and EGF repeats with associated spacer domains containing the YWTD motif; a single transmembrane-spanning domain; and a C-terminal cytoplasmic domain that generally contains at least 1 copy of the NPXY motif (Brown et al., 1998 [PubMed 9704021]). LRP6 and LRP5 (MIM 603506) function as coreceptors for WNT (MIM 164820) ligands and thus play a role in WNT signaling, which is important in a wide variety of biologic processes during pre- and postnatal life in invertebrates and vertebrates (Kokubu et al., 2004 [PubMed 15469977]).[supplied by OMIM] 1580863,2293188 16989816,16513652,16384981,16365045,16355283,15908424,15516984,15489334,15469977,15342556,15271658,15084453,14739301,14702039,12897152,12857724,12477932,11742004,11448771,11357136,11029007,10036184,8889549,16263759,16564009,9704021,18083125,18077588,17804805,17765217,17698587,17569865,17517621,17376403,17332414,17326769 2293188 4040 NM_002336,AC007537,AC007621,AF090131,CH471094,AA126261,AB209683,AF074264,AK074543,AK074902,AK094666,AK124760,BC029941,BC117136,BC126405,BP229563 NP_002327,AAD21410,EAW96253,BAD92920,AAC33006,AAI17137,AAI26406,O75581,Q59EX8,Q9UQH4 Hs.584775 GDB:9836819 ADCAD2|FLJ90062|FLJ90421 protein-coding 1313932 LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor This gene encodes an apolipoprotein E receptor, a member of the low density lipoprotein receptor (LDLR) family. Apolipoprotein E is a small lipophilic plasma protein and a component of lipoproteins such as chylomicron remnants, very low density lipoprotein (VLDL), and high density lipoprotein (HDL). The apolipoprotein E receptor is involved in cellular recognition and internalization of these lipoproteins. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. 1358346,1358468 8626535,11152697,10380922,11369809,18039658,17847002,17614163,17553992,17470198,16951405,16642433,16481437,16332682,16034672,15950758,15489334,15313836,12167620,10571240,10508213,10231386,10218790,9079678,14732905,14702039,12950167,12899622,12871934,12824284,12807892,12681505,12670700,12621059,12477932,12426372,12399018,12169628 1358346,1358468 7804 NM_033300,NM_017522,NM_001018054,NM_004631,AL355483,AL606760,CH471059,AA775280,AK096482,AK122887,BC006443,BC051836,BM477111,CF593917,D50678,Z75190,D86407 NP_150643,NP_059992,NP_001018064,NP_004622,CAI18908,CAI18909,CAI18910,EAX06740,EAX06741,EAX06742,EAX06743,EAX06744,EAX06745,BAA21824,BAA21825,AAH06443,AAH51836,BAA09328,CAA99509,Q14114,Q5SW65,Q5SW66,Q5SW67 Hs.576154 GDB:9836105 APOER2|HSZ75190|MCI1 protein-coding 1354477 LRPAP1 low density lipoprotein receptor-related protein associated protein 1 1358749,1581921,1581922,1580863,1641936,1641937 15213425,14674767,12899622,12637503,12477932,12394648,12193592,11992244,11793025,11557679,11425005,11384978,11006321,10747918,10571241,9782079,9373149,9207124,9013611,9010785,8940146,8125298,7959795,7822276,7789983,7774585,7592875,7535288,7512726,7510321,1718973,1400426,1374383,2229028,3266596,1712782,16263759,8654360,18075286,18055545,17987404,17913606,17536759,17123336,16837242,16704534,16650578,16517593,16175004,15815621,15489334 1358749,1581921,1581922,1641936,1641937 4043 AF035767,AL590235,CH471131,CS101462,U06976,AK222504,AK222527,AK292321,BC105074,BC112067,BX647984,CR591442,CR591537,CR595839,CR596948,CR597384,CR599568,CR601788,CR603821,CR603866,NM_002337,CR604363,CR604735,CR605976,CR606004,CR607197,CR607263,CR607312,CR611476,CR613053,CR614498,CR616455,CR617514,CR618610,CR619388,CR619887,CR621877,CR624552,CR625232,CR625424,CR625692,CR626102,M63959 NP_002328,AAC67373,CAM21451,EAW82460,EAW82461,CAJ00723,AAA87889,BAD96224,BAD96247,BAF85010,AAI05075,AAI12068,AAA51553,P30533 Hs.533136 GDB:134668 A2MRAP|A2RAP|HBP44|MGC138272|MRAP|RAP protein-coding 1315270 LRPPRC leucine-rich PPR-motif containing This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the cytoskeleton with a variety of cellular processes. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene. 1600674,1600676,1580863 12832482,12762840,17050673,17353931,15907802,15272088,14743216,12529507,12477932,11827465,11464862,9110174,8619474,8012652 1600674,1600676 10128 NM_133259,AC108476,AC127379,CH471053,AF052133,AK125781,AK130686,AK290016,AY289212,BC010282,BC026034,BC038181,BC050311,BC130285,BQ021667,M92439 NP_573566,AAY24012,AAY24043,EAX00284,BAC86287,BAF82705,AAP41922,AAH10282,AAH26034,AAH50311,AAI30286,AAA67549,P42704,Q53PC0,Q53QN7,Q96D84 Hs.368084,Hs.633440 GDB:9955283 CLONE-23970|GP130|LRP130|LSFC protein-coding 1318108 LRRC1 leucine rich repeat containing 1 1580863 16344560,15489334,14702039,12477932,12200217,11440998 55227 NM_018214,AL033384,AL513211,CH471081,AF332199,AF359380,AJ420513,AK001637,AK021896,AK292248,AU119761,BC003193 NP_060684,CAI21666,CAI17358,CAI17359,EAX04429,EAX04430,AAK69623,AAK72246,BAA91801,BAB13929,BAF84937,AAH03193,Q5T0G2,Q5T0G3,Q5TGN3,Q9BTT6,ABW03439 Hs.646997,Hs.700747 GDB:11508556 FLJ10775|FLJ11834|LANO|dJ523E19.1 protein-coding 1348592 LRRC10 leucine rich repeat containing 10 15489334,14751244,14702039,12477932 376132 NM_201550,AC018921,CH471054,AK095935,AK123908,BC090881,BC106892,BC106893 NP_963844,EAW97231,BAC85724,AAH90881,AAI06893,AAI06894,Q3B873,Q3KP57,Q5BKY1 Hs.448708 HRLRRP|MGC125812 protein-coding 1348401 LRRC14 leucine rich repeat containing 14 15489334,12477932,7584026 9684 NM_014665,AC084125,CH471162,AK289473,BC011377,CR625635,D25216 NP_055480,EAW82066,EAW82067,EAW82068,EAW82069,BAF82162,AAH11377,BAA04946,Q15048 Hs.459391 KIAA0014 protein-coding 733250 LRRC15 leucine rich repeat containing 15 1580863 16641997,16098915,14702039,12923058,12477932,11785964 131578 NM_130830,AC125362,AB071037,AK022342,AK125112,BC101064,BC101065,BK001325 NP_570843,BAB84587,AAI01065,AAI01066,DAA01740,Q495Q6,Q8TF66 Hs.288467 LIB leucine-rich repeat protein induced by beta-amyloid protein-coding 1315346 LRRC16A leucine rich repeat containing 16A 15302935,15146197,12477932,10737800,9373149,8125298 55604 NM_017640,AL022170,AL024509,AL160037,AI142012,AK000055,AK123817,AK125696,AK225208,BC040903,BC140770,BE765272,BF330246,BG978388,BQ423885,CB132825,CD691491,CN283219,CV330537,Y10210,Y10508,Y10514,Y10518,Y10519,Z83935,Z83950 NP_060110,CAI21583,CAI21665,CAH72024,BAA90912,BAC85701,BAC86250,AAH40903,AAI40771,Q5VZK8,Q5VZK9,Q8IW66 Hs.649550,Hs.670507 FLJ20048|FLJ43708|LRRC16|dJ501N12.1|dJ501N12.5 leucine rich repeat containing 16 protein-coding 1349280 LRRC16B leucine rich repeat containing 16B 16344560,15028280,12477932,10737800 90668 NM_138360,AL136295,AI017934,AI631690,AK074167,AL834197,BC008134,BG913168,BG977591,BU102125,DA121863,DT932621 NP_612369,BAB84993,CAD38886,AAH08134,Q8ND23 Hs.26135 C14orf121|crml-1 protein-coding 1344845 LRRC17 leucine rich repeat containing 17 15489334,12975309,12853948,12477932,9373149,8982252,8125298 10234 NM_005824,NM_001031692,AC005250,AC073127,CH471070,AK225701,AK226021,AK290305,AY358889,BC027903,U32907 NP_005815,NP_001026862,AAS07483,EAW83307,EAW83308,BAF82994,AAQ89248,AAH27903,AAB41565,Q8N6Y2 Hs.567412 P37NB protein-coding 1352045 LRRC18 leucine rich repeat containing 18 16189514,15707978,15489334,12975309,12477932 474354 NM_001006939,AC060234,AY358137,BC036722 NP_001006940,AAQ88504,AAH36722,Q8N456 Hs.202438 MGC34773|UNQ933|UNQ9338|VKGE9338 protein-coding 1350270 LRRC19 leucine rich repeat containing 19 1580863 15489334,14702039,12477932,9373149 64922 NM_022901,AL355432,CH471071,AK024955,AK025070,AK222987,BC056252,BC126156 NP_075052,EAW58574,BAB15042,BAD96707,AAI26157,Q53GE4,Q9H756 Hs.128071 FLJ21302 protein-coding 1323318 LRRC2 leucine rich repeat containing 2 8125298,15489334,14702039,12477932,11896456,9373149 79442 NM_024512,NM_024750,AC098613,AC104304,CH471055,AJ308569,AK057808,AK223440,BC029118 NP_078788,NP_079026,EAW64769,EAW64770,EAW64771,CAC33442,BAB71585,BAD97160,AAH29118,Q53F49,Q9BYS8 Hs.657345 GDB:11506211 protein-coding 1602483 LRRC20 leucine rich repeat containing 20 15489334,15164054,14702039,12975309,12477932 55222 NM_018239,NM_018205,NM_207119,AC022532,AL355138,CH471083,AK001613,AK001706,AK094734,AL122117,AY358318,BC024001,BM788766,CF552977,CR590887,CR618443 Q8TCA0,NP_060709,NP_060675,NP_997002,CAI12600,CAI12601,CAI12602,CAI12603,EAW54388,EAW54389,EAW54390,EAW54391,EAW54392,EAW54393,EAW54394,EAW54395,EAW54396,EAW54397,BAA91789,BAA91849,BAC04409,AAQ88684,AAH24001 Hs.7778 FLJ10751|FLJ10844 protein-coding 1604054 LRRC23 leucine rich repeat containing 23 16030496,15489334,12477932,9373149,9074930,8889548,8723724,8125298 10233 NM_201650,NM_006992,CH471116,U47924,AI524335,AK223535,AK292291,AK292367,AY834277,BC014450,BC029858,BM714841,BM822373,CA444672,CB140563,CR590063,CR595324,U72508,U72510 NP_964013,NP_008923,EAW88712,EAW88713,EAW88714,EAW88715,EAW88716,AAB51319,BAD97255,BAF84980,BAF85056,AAV97885,AAH29858,AAC51638,Q53EV4,Q5MD59,ABM82277,ABW03381 Hs.155586 LRPB7 protein-coding 1605162 LRRC24 leucine rich repeat containing 24 15489334,12477932,7584026 441381 BC111067,CR607461,CR619484,NM_001024678,AC084125,CH471162,AB178281 BAD97811,AAI11068,Q50LG9,NP_001019849,EAW82065 Hs.459391,Hs.701263 LRRC14OS|MGC111484 protein-coding 1352396 LRRC25 leucine rich repeat containing 25 737633,1580863 14702039,12975309,12477932,12384430 737633 126364 NM_145256,AC008397,CH471106,AJ422148,AK095435,AY358151,BC025744,BC033825,BC053659,BC071640,BC093842,BI910095,CR593873 NP_660299,EAW84695,EAW84696,CAD19531,BAC04548,AAQ88518,AAH25744,AAH53659,AAH71640,AAH93842,Q6IQ00,Q8N386,Q8TAB8,ABM81850 Hs.332156 FLJ38116|MAPA protein-coding 1603823 LRRC26 leucine rich repeat containing 26 16585525 389816 NM_001013653,AL929554,CB160046,DN996987,DQ355157 NP_001013675,CAH72880,ABC79623,Q2I0M4 Hs.669977 bA350O14.10 cytokeratin associated protein protein-coding 1342977 LRRC26 leucine rich repeat containing 26 414321 XM_351861 1318562 LRRC27 leucine rich repeat containing 27 15489334,15164054,14702039,12477932,11214970 80313 AL096806,AL590105,CH471066,AB051461,AK091472,AK093250,AK097418,AK098652,AL512722,BC029902,NM_030626,BC050097,BC058159 NP_085129,CAI13016,CAI13017,CAI13018,CAI13019,EAW49121,EAW49122,EAW49123,EAW49124,BAB21765,BAC04108,BAC05366,AAH50097,Q9C0I9 Hs.119897,Hs.648198 protein-coding 1316267 LRRC28 leucine rich repeat containing 28 737633 15489334,14702039,12975309,12477932 737633 123355 NM_144598,AC022819,AC037479,CH471101,AK091588,AK127177,AK292887,AY358082,BC019704,BC047306,CR606315 NP_653199,EAX02240,EAX02241,EAX02242,EAX02243,EAX02244,BAC03702,BAC86870,BAF85576,AAQ88449,AAH19704,AAH47306,Q86X40,Q8NB41,Q8WUS2 Hs.578684 FLJ34269|FLJ45242|MGC24976 protein-coding 1353942 LRRC29 leucine rich repeat containing 29 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. 15489334,14702039,12477932,10531037 26231 NM_001004055,NM_012163,AC040160,CH471092,AF176701,AK096101,BC018785,BI085522 NP_001004055,NP_036295,EAW83099,EAW83100,EAW83101,EAW83102,EAW83103,EAW83104,AAF03701,AAH18785,Q8WV35,ABM82922,ABM86112 Hs.461000 FBL9|FBXL9 protein-coding 732363 LRRC3 leucine rich repeat containing 3 15489334,12975309,12477932,12036297 81543 NM_030891,AP001065,CH471079,AB058646,AK127604,AY061857,AY358120,BC064321,BC119648,BC119649 NP_112153,EAX09425,BAB40229,BAC87053,AAL35741,AAQ88487,AAI19649,AAI19650,Q6ZSA1,Q9BY71 Hs.326579 GDB:11506213 C21orf102 leucine-rich repeat-containing 3 protein-coding 1343727 LRRC30 leucine rich repeat containing 30 339291 NM_001105581,AP005270 NP_001099051,A6NM36 Hs.647588 protein-coding 1346329 LRRC31 leucine rich repeat containing 31 16344560,15489334,14702039,12975309,12477932 79782 NM_024727,AC078795,CH471052,AK026912,AK097338,AY358138,BC117401,DA967755 NP_079003,EAW78535,BAB15589,BAC05004,AAQ88505,AAI17402,Q6UY01 Hs.411295 FLJ23259|FLJ40019 protein-coding 1319230 LRRC32 leucine rich repeat containing 32 GARP encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. The FGF and TYR genes are also located in this region. 1580863 8180135,15489334,12800150,12477932,8840187,1543912 2615 NM_005512,AP001189,CH471076,BC052210,BC070079,CR618700,Z24680 NP_005503,EAW75001,EAW75002,AAH52210,AAH70079,CAA80847,Q14392 Hs.151641 GDB:433911 D11S833E|GARP protein-coding 1602040 LRRC33 leucine rich repeat containing 33 15489334,12975309,12477932 375387 NM_198565,AC055725,AY358322,BC034704,BC044233,CR619710 NP_940967,AAQ88688,AAH44233,Q86YC3 Hs.223296 GARPL1|MGC50789|UNQ3030 protein-coding 1604227 LRRC34 leucine rich repeat containing 34 15489334,14702039,12477932 151827 NM_153353,AC078795,CH471052,AK095125,AK130856,BC028610,BC032841,BC040162,CR606238 NP_699184,EAW78537,EAW78538,EAW78539,EAW78540,EAW78541,EAW78542,AAH32841,Q8IZ02,Q8TBX4 Hs.591289 FLJ27346|MGC27085 protein-coding 1605363 LRRC36 leucine rich repeat containing 36 14702039,12477932 55282 NM_018296,AC009061,CH471092,AK001866,AK292311,AY313780,AY963267,BC018031,BC026156,CR593753 NP_060766,EAW83125,EAW83126,EAW83127,BAA91949,BAF85000,AAP81011,AAY46032,AAH26156,Q1X8D7,Q9NV11 Hs.125139 FLJ11004|RORBP70|XLHSRF2 protein-coding 1605100 LRRC37A leucine rich repeat containing 37A 16344560,15533724,15489334,14702039,12477932,9628581 9884 NM_014834,AC005829,AC139026,BC040501,CR749232,DA397530 NP_055649,AAH40501,CAH18088,A6NMS7 Hs.696401 DKFZp686N1231|KIAA0563 protein-coding 1602023 LRRC37A2 leucine rich repeat containing 37, member A2 14702039,12477932 474170 NM_001006607,AC138645,AK091733,AK126994,AW149940,AY386262,BC088375,BQ649697 NP_001006608,AAR28083,Q5YKG5 Hs.646568 FLJ45049 protein-coding 1605801 LRRC37A3 leucine rich repeat containing 37, member A3 15489334,14702039,12477932,9628581 374819 NM_199340,AC103810,AB011135,AK091625,BC043145,BC048966,BC113643,BC117274 NP_955372,BAA25489,BAC03710,AAH43145,AAI13644,AAI17275,O60309 Hs.551962 FLJ34306|KIAA0563|LRRC37A|MGC41826|MGC57168 protein-coding 1602879 LRRC37A4 leucine rich repeat containing 37, member A4 (pseudogene) 14702039,12477932 55073 NR_002940,AC091132,AK000982,BC041653,BC088374 BAA91454,Q9NWC8 Hs.663277,Hs.675446 FLJ10120|KIAA0563 pseudo 1606474 LRRC37B leucine rich repeat containing 37B 17632510,16625196,15236313,12477932,11468690,10843809,8889548 114659 AC090616,AJ314647,AY386261,BC117373,BF979626,BM718301,NM_052888 CAC44536,AAR28082,AAI17374,Q17RC9,Q96QE4,NP_443120 Hs.514071 protein-coding 2289765 LRRC37B2 leucine rich repeat containing 37, member B2 16303743,15236313,12477932 147172 XR_040942,XR_040943,NR_015341,AC005562,AC011840,CQ783411,AK075282,AK124001,AK124759,AL359623,AL713754,BC035414,BC042455,BC118647 CAF86615,BAC11518,CAD28527,AAI18648,Q8TCQ8 Hs.568209 DKFZp667M2411 pseudo 1602439 LRRC38 leucine rich repeat containing 38 12477932 126755 XM_059074,XM_943661,XM_001713942,AL354712,AL603749,BC016048,CR622769 XP_059074,XP_948754,XP_001713994,CAH70436,AAH16048,Q5VT99 Hs.657356 RP4-597A16.1 protein-coding 1606975 LRRC39 leucine rich repeat containing 39 16710414,16381901,15489336,15489334,14702039,12975309,12477932,11076863 127495 CH471097,AK096892,AL833417,AY358131,BC009613,BC022420,NM_144620,AL445928 EAW72965,EAW72966,EAW72967,EAW72968,EAW72969,AAQ88498,AAH09613,Q0JU27,Q96DD0,CAL37579,CAL37984,ABM84416,ABM87433,NP_653221,CAH72253,CAH72254 Hs.44277 DKFZp313O1122|MGC14816 protein-coding 1345434 LRRC3B leucine rich repeat containing 3B 18377727,16381901,15489336,15489334,12975309,12477932,11076863 116135 NM_052953,AC099754,AC114877,CH471055,AF396933,AY358282,BC040656,BC067784,BC087849 NP_443185,EAW64373,EAW64374,AAK84157,AAQ88649,AAH40656,AAH67784,AAH87849,Q0JT41,Q0JTT1,Q96PB8,CAL37719,CAL37871,CAL38040,CAL38081,CAL38282,CAL38323,CAL38499,CAL38694 Hs.517868 LRP15|MGC102927 protein-coding 1349330 LRRC4 leucine rich repeat containing 4 This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. 1580863 17541939,16941076,16723503,16215635,16188120,16077900,15967442,15489334,14702039,14595443,12975309,12969517,12690205,12477932,10964959,8889548 64101 NM_022143,AC008039,CH236947,CH471070,AF196976,AI568859,AJ297858,AK172751,AY358307,BC036685,BC111561,BC111745,BU682120 NP_071426,EAL24316,EAW83639,AAG28019,CAC82651,BAD18737,AAQ88674,AAI11562,AAI11746,Q9HBW1 Hs.655003 GDB:11508768 MGC133342|MGC133343|NAG14 protein-coding 1601993 LRRC40 leucine rich repeat containing 40 16710414,15489334,14702039,12477932,9373149,8125298 55631 Q9H9A6 AK225337,AL162076,BC003407,NM_017768,AL353771,CH471059,AK000338,AK022951,BC008586 CAB82410,AAH03407,NP_060238,CAI22332,EAX06460,BAA91094,BAB14326,AAH08586,Q9H9A6 Hs.147836 FLJ20331|RP4-677H15.1|dJ677H15.1 protein-coding 1607070 LRRC41 leucine rich repeat containing 41 17081983,16498413,16189514,15498874,15489334,14702039,12477932,11384984,9373149,8889548,8125298 10489 AL122001,CH471059,AF370430,AK024051,AK125827,AK223420,AK291283,BC004953,BC092479,BC101522,BC101524,BM548142,BU155079,BX537366,CF125098,X86018,NM_006369,AL121602 EAX06927,EAX06928,AAQ15266,BAB14801,BAC86308,BAD97140,BAF83972,AAH04953,AAH92479,AAI01523,AAI01525,CAD97609,CAA60013,Q15345,Q53F69,Q562F1,Q9H822,NP_006360 Hs.144941 MGC126571|MGC126573|MUF1|PP7759|RP4-636H5.2 protein-coding 1604548 LRRC42 leucine rich repeat containing 42 16303743,15489334,14702039,12477932 115353 NM_052940,CQ783291,AK074521,AK075201,AK090881,AK095767,BC013101,CR590055,CR593824,CR596855,CR597316,CR597412,CR604576,CR605476,CR607457,CR612127,CR614458,CR616803,CR626327,AL031427,CH471059 CAF86501,BAC11038,BAC11466,AAH13101,Q9Y546,NP_443172,EAX06713,EAX06714,EAX06715,EAX06716 Hs.40094 MGC8974|dJ167A19.4 protein-coding 1602639 LRRC43 leucine rich repeat containing 43 16344560,12477932 254050 NM_152759,NM_001098519,AC048338,AK124107,BC029245,DA951767 NP_689972,NP_001091989,BAC85772,AAH29245,Q8N309 Hs.374856 MGC35140 protein-coding 1603911 LRRC44 leucine rich repeat containing 44 12477932 127255 NM_001105659,AC098692,AL359205,CH471059,AK131476,BC020778,BC062795,BX647210 NP_001099129,EAX06418,EAX06419,EAX06420,EAX06421,EAX06422,EAX06423,BAD18621,AAH20778,AAH62795,A6PVS8 Hs.644625 MGC22773 protein-coding 1604206 LRRC45 leucine rich repeat containing 45 15489334,12477932 201255 NM_144999,AC137723,BC014109 NP_659436,AAH14109,Q96CN5 Hs.143774 MGC20806 protein-coding 1602198 LRRC46 leucine rich repeat containing 46 15489334,12477932 90506 NM_033413,AC003665,CH471109,AK027206,AK292765,BC010412 NP_219481,EAW94793,EAW94794,BAF85454,AAH10412,Q96FV0 Hs.130767 FLJ23553|MGC16309 protein-coding 1603205 LRRC47 leucine rich repeat containing 47 17081983,16710414,15489334,12477932,10574461 57470 NM_020710,AL365330,CH471130,AB033011,BC012300,BC031301 NP_065761,CAI42528,EAW71478,EAW71479,BAA86499,AAH31301,Q8N1G4 Hs.268488 KIAA1185|RP1-286D6.3 protein-coding 1606494 LRRC48 leucine rich repeat containing 48 11256614,16381901,15489336,15489334,14702039,12477932,11997338,11840190,11230166,11076863 83450 NM_031294,AC087163,CH471196,AK093317,AK293011,AL136926,BC040276,BC047873,BC050419,BC050665 NP_112584,EAW55681,EAW55682,EAW55683,BAF85700,CAB66860,AAH40276,AAH47873,AAH50419,AAH50665,Q0JV17,Q0JV49,Q9H069,CAL37611,CAL37643 Hs.579264 DKFZP586M1120 protein-coding 1606554 LRRC49 leucine rich repeat containing 49 15489334,14702039,12477932,9373149,8889548 54839 NM_017691,AC013752,AC084703,AC090868,CH471082,AK000163,AK097752,AK123672,AK125732,AK225137,BC026157,BC037982,BM662008,CR609201 NP_060161,EAW77864,EAW77865,EAW77866,EAW77867,BAA90984,AAH37982,Q8IUZ0 Hs.12692 FLJ20156 protein-coding 1316128 LRRC4B leucine rich repeat containing 4B 1580863 15489334,15057824,12477932,11441184 94030 NM_001080457,AC008743,CH471135,CS083253,AL137451,BC019687,BC032460,BC056207,BC131897 NP_001073926,EAW71884,EAW71885,EAW71886,CAI96013,CAB70743,AAH19687,AAH32460,AAH56207,AAI31898,Q9NT99,AAI56080 Hs.120873 DKFZp761A179|HSM|LRIG4 protein-coding 1605967 LRRC4C leucine rich repeat containing 4C NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM] 14595443,15489334,12975309,12477932,10997877 57689 NM_020929,AC018951,AC080100,CH471064,AB046800,AK289646,AY358293,BC041374,DQ084201,DQ084202 NP_065980,EAW68107,BAB13406,BAF82335,AAQ88660,AAH41374,AAY86708,AAY86709,Q4JIV9,Q4JIW0,Q9HCJ2 Hs.135736 KIAA1580|NGL-1|NGL1 protein-coding 1606172 LRRC50 leucine rich repeat containing 50 16344560,15489334,14702039,12477932 123872 NM_178452,AC009123,AC040169,CH471114,AK057238,AK058059,AL137334,AL833327,AL833328,AL833336,BC024009,BX648657,DA349893 NP_848547,EAW95500,EAW95501,BAB71392,BAB71645,CAH10706,CAH10390,CAH10394,AAH24009,Q69YW5,Q8NEP3,Q96MB6 Hs.310164 DKFZp434A119|FLJ25330 protein-coding 1602965 LRRC51 leucine rich repeat containing 51 15489334,12477932 220074 NM_145309,AP000812,AP002490,CH471076,AF289588,BC012855,BC035223 NP_660352,EAW74832,EAW74833,EAW74834,AAL55772,AAH12855,Q8WZ04,Q96E66 Hs.317243 protein-coding 1603449 LRRC52 leucine rich repeat containing 52 16710414,14702039,12477932 440699 NM_001005214,AL157714,AK098677,BC132981,BC132983 NP_001005214,CAI15338,BAC05375,AAI32982,AAI32984,Q8N7C0 Hs.664975 FLJ25811 protein-coding 2292704 LRRC53 leucine rich repeat containing 53 16710414,11181995 100144878 AC105271,CH471059 EAX06416,A6NM62 protein-coding 1603880 LRRC55 leucine rich repeat containing 55 15340161,14702039 219527 NM_001005210,AP001786,CH471076,AK127591,BC150572 NP_001005210,EAW73729,BAC87047,AAI50573,Q6ZSA7 Hs.199853 FLJ45686 protein-coding 1604547 LRRC56 leucine rich repeat containing 56 15489334,14702039,12477932 115399 NM_198075,NG_007666,AC137894,AP006284,CH471158,AK024495,AL831961,BC016439,BC035936,BC035937 NP_932341,EAX02342,EAX02343,EAX02344,BAB15785,CAD38603,AAH16439,Q8IYG6,Q9H7I5,AAH35937,Q0P6F0 Hs.567655 DKFZp761L1518|FLJ00101 protein-coding 1602825 LRRC57 leucine rich repeat containing 57 15489334,14702039,12477932 255252 NM_153260,AC018362,CH471125,AK094131,AK094891,BC051262,BC058935,BX538324,CR749223 NP_694992,EAW92560,EAW92561,EAW92562,EAW92563,EAW92564,EAW92565,BAC04294,BAC04451,AAH58935,CAD98097,CAH18079,Q8N9N7 Hs.234681 DKFZp686H1865|FLJ36812 protein-coding 1606179 LRRC58 leucine rich repeat containing 58 16381901,15489336,14702039,12477932,11076863 116064 NM_001099678,AC063952,CH471052,AK056809,BC013757,CR614969,CR624557 NP_001093148,EAW79529,AAH13757,Q0JTP8,Q96CX6,CAL38114 Hs.518084 protein-coding 1605059 LRRC59 leucine rich repeat containing 59 17353931,15489334,12665801,12477932,16189514,14743216 55379 NM_018509,AC004707,CH471109,AF119857,AK025328,AK130572,BC017168,BC033695,BC052279,CR614409,CR624076 NP_060979,EAW94615,EAW94616,AAF69611,AAH17168,AAH52279,Q96AG4,ABM83301,ABM86515 Hs.370927 FLJ21675|PRO1855 protein-coding 1351490 LRRC6 leucine rich repeat containing 6 15489334,12477932 23639 NM_012472,AF216667,CH471060,BC027589,BC047286 NP_036604,EAW92143,EAW92144,AAH27589,AAH47286,Q86X45 Hs.591865 LRTP|TSLRP protein-coding 1602102 LRRC61 leucine rich repeat containing 61 15489334,14702039,12853948,12690205,12477932 65999 NM_023942,AACC02000108,AC005586,CH471173,AF161413,AK025869,AK055954,AK093915,AK098061,BC001354,CR596920,CR604499,CR604731,CR606039,CR608476,CR608616,CR613542,CR619181,CR622405,CR624936,CR625785 NP_076431,EAL24472,AAS00383,EAW54123,EAW54124,EAW54125,AAF28973,AAH01354,Q9BV99,Q9P087 Hs.647119 FLJ22216|FLJ31392|HSPC295|MGC3036 protein-coding 1349743 LRRC7 leucine rich repeat containing 7 1580863 15767459,17353931,17968527,17581699,17039495,16741999,16710414,16120608,12819232,12525888,12390249,11729199,11160423,10718198,8824323 57554 NM_020794,AL117353,AL157948,AL158840,AL359412,AL359894,AL391728,CH471059,AB037786,AF434715,AF498274,BC128989,CR749629 NP_065845,EAX06461,EAX06462,EAX06463,EAX06464,EAX06465,BAA92603,AAL28133,AAP06801,AAI28990,CAH18423,Q5VX21,Q96NW7 Hs.479658 DKFZp686I1147|KIAA1365|MGC144918 protein-coding 1323279 LRRC8A leucine rich repeat containing 8 family, member A This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. 1599837 16303743,17081983,16344560,15489334,15183935,15164053,15094057,14702039,14660746,14660738,12975309,12477932,10718198 1599837 56262 NM_019594,NM_001127244,NM_001127245,AL672142,CH471090,AB037858,AK001199,AK024649,AK027495,AK074723,AK123611,AK289842,AY143166,AY358286,BC000775,BC051322,BX376144,CA446287,CR619448,CR619692,DA243590 NP_062540,NP_001120716,NP_001120717,EAW87842,EAW87843,BAA92675,BAA91549,BAB55153,BAC11161,BAC85661,BAF82531,AAN18279,AAQ88653,AAH51322,Q8IWT6,Q96SW8,Q9NW37 Hs.705420 FLJ10337|FLJ41617|KIAA1437|LRRC8 leucine rich repeat containing 8 protein-coding 1606820 LRRC8B leucine rich repeat containing 8 family, member B 15489334,15094057,12975309,12477932,9039502 23507 NM_015350,AC099569,CH471097,AF385436,AY358112,AY640232,BC030607,BC037831,BC053565,BC060782,D86984 NP_056165,EAW73137,EAW73138,AAM43837,AAQ88479,AAU14245,AAH30607,AAH37831,AAH60782,BAA13220,Q49AH5,Q537H9,Q6P9F7 Hs.482017,Hs.632420 KIAA0231|MGC42220|TA-LRRP protein-coding 1604274 LRRC8C leucine rich repeat containing 8 family, member C 15489334,15184384,15094057,12477932,11230166 84230 NM_032270,AC093423,AC099569,CH471097,AB081509,AK127881,AL136919,BC036122,BC103929,BC113973 NP_115646,EAW73134,BAB86303,CAB66853,AAH36122,AAI13974,Q4G0W7,Q8TDW0 Hs.657493 AD158|DKFZp586J1119|FAD158|MGC138551 protein-coding 1320026 LRRC8D leucine rich repeat containing 8 family, member D 15231747,16710414,15489334,15094057,14702039,12975309,12477932,9373149,9110174,8619474,8125298,16189514 55144 NM_018103,AC099568,AL391497,CH471097,AK001332,AK092238,AK222787,AL831880,AL832952,AY007147,AY358874,BC009486,BC024159,CR624835 NP_060573,CAH72224,EAW73130,EAW73131,EAW73132,BAA91631,BAD96507,CAH56285,CAH56273,AAQ89233,AAH09486,AAH24159,Q53GZ4,Q5VW99,Q5VWA0,Q658W7,Q659A9,Q7L1W4,Q96GG5 Hs.482087 GDB:11506215 FLJ10470|FLJ20403|LRRC5 protein-coding 1604796 LRRC8E leucine rich repeat containing 8 family, member E 16381901,15489336,15489334,15094057,14702039,12477932,11230166,11076863 80131 NM_025061,AC010336,CH471139,AK027073,AK091134,AL834474,BC022216,BC070089,BC108252,BX538180,CB049178,CD109368 NP_079337,EAW68969,BAB15648,CAD39133,AAH22216,AAH70089,AAI08253,Q0JSX2,Q6NSJ5,Q6ZV13,CAL38392 Hs.501511 FLJ23420 protein-coding 1603492 LRRC9 leucine rich repeat containing 9 341883 NM_198499,AL133299,AL157911,AK128037 NP_940901,BAC87242,Q6ZRR7 FLJ46156 protein-coding 1604564 LRRCC1 leucine rich repeat and coiled-coil domain containing 1 16344560,14702039,12477932,11214970 85444 NM_033402,NM_001077501,AC011773,AC083962,CH471068,AA000990,AB051551,AK056185,AK057990,BC030701,BC070092,DA412089 NP_208325,NP_001070969,EAW87120,EAW87121,BAB21855,BAB71115,BAB71626,AAH30701,Q6NSJ3,Q9C099 Hs.193115 KIAA1764|SAP2 protein-coding 1348771 LRRFIP1 leucine rich repeat (in FLII) interacting protein 1 1580863 9671805,9705290,17081983,16964243,16199883,15815621,15489334,15302935,14702039,14522076,12477932,10366446,10364563,9525888 9208 NM_004735,AC012076,CH471063,AF115510,AJ223075,AK000884,BC001385,BC004958,BC010662,BC018883,BC019335,BC071618,BC083492,BC108913,BC108914,U69609 NP_004726,AAY14672,AAY14673,EAW71122,EAW71123,EAW71124,EAW71125,AAD41258,CAA11076,AAH01385,AAH10662,AAH19335,AAI08914,AAI08915,AAC32037,Q05D04,Q32MZ4,Q9BSL6,Q9Y607 Hs.471779 GDB:9955463 FLAP-1|FLIIAP1|GCF-2|GCF2|HUFI-1|MGC10947|MGC119738|MGC119739|TRIP protein-coding 1314733 LRRFIP2 leucine rich repeat (in FLII) interacting protein 2 1580863 10366446,17081983,15677333,15489334,14702039,12477932 9209 NM_017724,NM_006309,AC006583,AC126118,CH471055,AF115509,AK000255,AK024692,AK026336,AK124432,AK291514,BC053668,BX648794,CR611838,CR749705 NP_060194,NP_006300,EAW64486,EAW64487,EAW64488,EAW64489,EAW64490,EAW64491,AAD41257,BAA91035,BAF84203,AAH53668,CAH18481,Q9Y608 Hs.475319 GDB:9955464 DKFZp434H2035|FLJ20248|FLJ22683|HUFI-2 protein-coding 1343054 LRRIQ1 leucine-rich repeats and IQ motif containing 1 737633 16344560,14702039,12477932,11347906,8889548 737633 84125 NM_001079910,NM_032165,AC025418,AC079631,AC133794,CH471054,AB058704,AK022365,AU122206,BC005399,BC093088,BU608190,BU677204,CA502842,DB447399,DN831755 NP_001073379,NP_115541,EAW97393,EAW97394,EAW97395,EAW97396,BAB47430,BAB14022,AAH05399,AAH93088,Q96JM4 Hs.402200 FLJ12303 protein-coding 1317516 LRRK1 leucine-rich repeat kinase 1 17353931,18045479,17394548,17324517,17225181,16572171,16243488,15489334,14702039,14654223,12477932,11347906,9373149,8889548,8125298 79705 NM_024652,AC015712,AC090907,CH471101,AB058693,BQ187037,DQ013130,AK026772,AK054662,AK058028,AK094556,AK130975,AK131075,AK225575,AW592808,BC005408,BC018934,BC020379,BC066655,BC068080,BC110293,BC146769 NP_078928,EAX02287,EAX02288,EAX02289,BAB47419,AAY67799,Q38SD2,BAB15547,BAC85472,BAC85125,AAH05408,AAH66655,AAH68080,Q9BS11,AAI46770 Hs.407918 FLJ23119|FLJ27465|KIAA1790|RIPK6|Roco1 protein-coding 1353141 LRRK2 leucine-rich repeat kinase 2 This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. 17200152,16980962,17442267,16352719,16321986,16269541,18486522,18484993,18464276,18450497,18435766,18434642,18412265,18379513,18378882,18353371,18337586,18322396,18322385,18316234,18265005,18230735,18213618,18211709,18201824,18201193,18182054,18097165,18045479,17999435,17960808,17938369,17914064,17880562,17868389,17846883,17804834,17803033,17803032,17720280,17706965,17659642,17639429,17625107,17622782,17614198,16750377,16728648,16671078,16643318,16633828,16632201,16622859,16622854,16616379,16614029,16602113,16533964,16532471,16511860,16467219,16437559,16436782,16436781,16333314,16298482,16275903,16272257,16272164,16269443,16254973,16251215,16250030,16247070,16240353,16172858,16157909,16157908,16157901,16149095,16145815,16115731,17611037,17596714,17584768,17540608,17523199,17512502,17482357,17470139,17469194,17447891,17440812,17433753,17427941,17419834,17409193,17395370,17394548,17388990,17385669,17377919,17353388,17352347,17341485,17335904,17324517,17314670,17260967,17253937,17235449,17230458,17225181,17222580,17222106,17216639,17215492,17187665,17179858,17160203,17151837,17149721,17116211,17115391,17097110,17083102,17082220,17080443,17078063,17060595,17052850,17050822,17044089,17020475,17019612,17017534,17017533,16991141,16966681,16966502,16966501,16966498,16939701,16928343,16865326,16822348,16817197,16781064,16758483,16750929,16102999,16102903,16087219,16081470,16001413,15955629,15955578,15929036,15925109,15884041,15880653,15852371,15811454,15732108,15726496,15680457,15680456,15680455,15541309,15541308,15146197,14702039,14691730,12477932,11891824 120892 AC079630,AC084290,AC107023,AK026776,AK122640,AK127729,AK131537,AL832453,AL834529,AY792511,BC117180,BM285390,BR000408,BU634341,BX640975,NM_198578,CN294292 NP_940980,BAC87105,CAD39185,AAV63975,AAI17181,FAA00322,Q17RV3,Q5S007,Q6MZN9,CAE45989 Hs.187636 AURA17|DARDARIN|PARK8|RIPK7|ROCO2 protein-coding 1345511 LRRN1 leucine rich repeat neuronal 1 15489336,16381901,15489334,15340161,14702039,12975309,12880961,12477932,11076863,10819331 57633 NM_020873,AC023484,CH471055,AB040930,AB074161,AK023273,AK291717,AY358312,BC034947 Q0JVQ2,Q6UXK5,CAL37408,CAL38112,CAL38432,CAL38647,NP_065924,EAW63900,EAW63901,BAA96021,BAE45733,BAB14500,BAF84406,AAQ88679,AAH34947 Hs.163244 GDB:9848750 FIGLER3|KIAA1497|NLRR-1 protein-coding 1313534 LRRN2 leucine rich repeat neuronal 2 The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 9662332,16710414,15489334,14702039,12975309,12477932,8401585,16189514 10446 NM_201630,NM_006338,AL161793,AL512306,CH471067,AF030435,AK001246,AK024867,AK226055,AL833565,AY358290,BC034047,BC068541,CR611702,T08293 NP_963924,NP_006329,CAI14096,EAW91520,EAW91521,EAW91522,AAC39792,AAQ88657,AAH34047,AAH68541,O75325,ABM83316,ABM86531 Hs.26312 FIGLER7|GAC1|LRANK1|LRRN5 leucine rich repeat neuronal 5 protein-coding 1350019 LRRN2 leucine rich repeat neuronal 2 353178 D49375 734364 LRRN3 leucine rich repeat neuronal 3 1580863 16344560,15489334,14702039,12975309,12477932,11549284 54674 CR457397,DA494543,DB095402,NM_001099658,NM_018334,AC004142,CH236947,CH471070,CS265753,AB060967,AF134481,AK001991,AK292556,AL442092,AY358280,BC035133,NM_001099660 CAG33678,Q9H3W5,Q9NUU4,NP_001093130,NP_001093128,NP_060804,EAL24380,EAW83449,EAW83450,CAJ78398,BAB47184,AAP97258,BAA92025,BAF85245,CAC09450,AAQ88647,AAH35133 Hs.3781 GDB:11506217 FIGLER5|FLJ11129|NLRR-3|NLRR3 protein-coding 1313178 LRRN4 leucine rich repeat neuronal 4 16344560,16189514,15870286,15489334,12477932,11780052 164312 NM_152611,AL035461,AL118505,CH471133,AK172833,AK290123,BC019612,BC027720,DA737583 NP_689824,CAI23479,CAI42165,EAX10397,BAD18798,BAF82812,AAH27720,Q6ZMD1,Q8WUT4 Hs.149133 GDB:11505270 C20orf75|FLJ23994|MGC25027|NLRR4|dJ1056H1.1 protein-coding 1603349 LRRN4CL LRRN4 C-terminal like 12975309,12477932 221091 NM_203422,AP001458,AK291334,AL834319,AY358354,BC053902 NP_981967,BAF84023,CAD38988,AAQ88720,AAH53902,Q8ND94 Hs.427449 MGC61707 protein-coding 1354064 LRRN6B leucine rich repeat neuronal 6B 14686891 353297 AK091795 1351021 LRRTM1 leucine rich repeat transmembrane neuronal 1 1580863 17667961,15489334,14702039,12975309,12676565,12477932,9373149,8125298 347730 NM_178839,AC016670,CH471053,AA977181,AK056644,AK225779,AK290512,AY182024,AY358310,BC045113,BI756350 NP_849161,EAW99566,EAW99567,BAB71240,BAF83201,AAO67545,AAQ88677,AAH45113,Q86UE6 Hs.591580 FLJ32082 protein-coding 1345909 LRRTM2 leucine rich repeat transmembrane neuronal 2 1580863 15489334,12676565,12477932,9455477 26045 NM_015564,AC011405,CH471062,AB007876,AY182026,BC028172,BC126408,BC126410,CR600503 NP_056379,EAW62125,BAA24846,AAO67547,AAI26409,AAI26411,O43300 Hs.656653 protein-coding 1312552 LRRTM3 leucine rich repeat transmembrane neuronal 3 1580863 17098871,15489334,12975309,12676565,12477932 347731 NM_178011,AC022401,AC069536,AL139240,CH471083,AK290168,AY182028,AY358315,BC111492,BC113715,BC113717,BX640611 NP_821079,EAW54253,BAF82857,AAO67549,AAQ88681,AAI11493,AAI13716,AAI13718,CAE45717,Q86VH5 Hs.652155 MGC131810 protein-coding 1352645 LRRTM4 leucine rich repeat transmembrane neuronal 4 1580863 16344560,15489334,14702039,12975309,12676565,12477932 80059 NM_024993,AC079614,CH471053,AK022630,AK122612,AK126961,AY182030,AY358324,BC017769,BC098267,BC098301,BC099738,BC110058,DB305042,DB366645 NP_079269,EAW99585,BAB14141,BAC86764,AAO67551,AAQ88690,AAH17769,AAH98267,AAH98301,AAH99738,AAI10059,Q4KMX1,Q6ZT31,Q86VH4,Q9H9T0 Hs.285782 FLJ12568|MGC120633|MGC120636 protein-coding 1342647 LRS1 Larsen syndrome 1 (autosomal dominant) 7485161 4044 GDB:682448 1343012 LRSAM1 leucine rich repeat and sterile alpha motif containing 1 LRSAM1 is a multifunctional RING finger protein that selectively regulates cell adhesion molecules, has ubiquitin ligase activity, and plays a role in receptor endocytosis and viral budding (Li et al., 2003 [PubMed 14635195]; Amit et al., 2004 [PubMed 15256501]).[supplied by OMIM] 737633 16713569,15489334,15256501,15164053,14702039,14635195,12975309,12477932,7757816,16808324,16189514 737633 90678 NM_001005373,NM_138361,NM_001005374,AL445222,CH471090,AF086398,AK056203,AK056305,AK091589,AK097094,AK226106,AY358830,BC009239,CR622763,Z44095 NP_001005373,NP_612370,NP_001005374,CAH72930,CAH72931,EAW87671,EAW87672,EAW87673,EAW87674,BAB71119,BAB71144,BAC03703,AAQ89189,AAH09239,Q6UWE0 Hs.495188 FLJ31641|RIFLE|TAL protein-coding 1606530 LRTM1 leucine-rich repeats and transmembrane domains 1 17081983,15489334,12477932,10931946 57408 NM_020678,AC092797,AC109584,CH471055,AF225421,BC040732,BC074741 NP_065729,EAW65305,EAW65306,AAG09723,AAH40732,AAH74741,Q9HBL6 Hs.591668 HT017 protein-coding 1605448 LRTM2 leucine-rich repeats and transmembrane domains 2 14702039 654429 NM_001039029,AC005343,CH471116,AK095610,AK124687,AK125402,AK126866,BC036868,BC150568 NP_001034118,EAW88921,EAW88922,BAC04589,BAC86158,BAC86729,AAI50569,Q6ZT65,Q6ZUR1,Q8N967 Hs.585579 FLJ42697 protein-coding 1603534 LRWD1 leucine-rich repeats and WD repeat domain containing 1 15302935,12477932 222229 NM_152892,AC093668,CH471197,AB209379,AK290967,AL133057,BC009436,BC018769,BC030547,CR598375,CR620752 NP_690852,EAW50250,BAD92616,BAF83656,CAB61382,AAH09436,AAH18769,AAH30547,Q59FT0,Q9UFC0 Hs.274135 DKFZp434K1815 protein-coding 1347242 LSAMP limbic system-associated membrane protein The protein encoded by this gene is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system. During development of the limbic system, this encoded protein is found on the surface of axonal membranes and growth cones, where it acts as a selective homophilic adhesion molecule, and guides the development of specific patterns of neuronal connections. 1580863 8666243,18433483,18318786,15489334,15146195,14667507,12477932,9615236 4045 NM_002338,AC012598,AC021657,AC067725,AC078784,AC078805,AC078813,AC084408,CH471052,BC033803,U41901 NP_002329,EAW79588,EAW79589,EAW79590,EAW79591,AAH33803,AAC50569,Q13449,ABM83025,ABM86218 Hs.657246 GDB:9838550 LAMP protein-coding 1605064 LSG1 large subunit GTPase 1 homolog (S. cerevisiae) LSG1 is a member of the novel Ylqf-related GTPase (YRG) family. LSG1 shuttles between nuclear Cajal bodies and the endoplasmic reticulum and is required for cell viability. Yeast Lsg1 is involved in ribosome biogenesis (Reynaud et al., 2005 [PubMed 16209721]).[supplied by OMIM] 16209721,16381901,15489336,14702039,12477932,11256614,11230166,11076863,9373149,8125298 55341 NM_018385,AC046143,CH471052,AK002163,AK225094,AL136897,BC015042,BC040119,BC058891,BC068500 NP_060855,EAW78034,EAW78035,EAW78036,EAW78037,EAW78038,EAW78039,BAA92116,CAB66831,AAH15042,AAH40119,AAH68500,Q0JVK5,Q9H089,CAL37455 Hs.518505 FLJ11301 protein-coding 1312715 LSM1 LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10369684,14667819,15231747,17001308,16756390,16699599,15489334,12515382,12477932,11953827,11920408,10851237,10523320,9230209,8980254,16189514 27257 NM_014462,AC084024,CH471080,AF000177,AF147348,AJ238094,BC001767,CR593275,CR601572,CR611636,CR621829 NP_055277,EAW63332,EAW63333,AAB62189,CAB45865,AAH01767,O15116 Hs.425311 CASM|YJL124C protein-coding 1350873 LSM10 LSM10, U7 small nuclear RNA associated 1580863 15231747,16914750,16087681,15489334,15188402,12975319,12477932,11574479,10207079,16189514,11782445 84967 NM_032881,AC119675,CH471059,AF166092,AF394685,BC007623 NP_116270,EAX07367,AAQ13594,AAL07689,AAH07623,Q7Z2T2,Q969L4 Hs.654622 MGC15749|MST074|MSTP074 protein-coding 1354131 LSM11 LSM11, U7 small nuclear RNA associated 737633 16914750,16087681,15489334,14702039,12975319,12477932 737633 134353 NM_173491,AC026407,CH471062,AK095592,BC051353,BC126449 NP_775762,EAW61589,BAC04581,AAH51353,AAI26450,P83369 Hs.631954 FLJ38273 protein-coding 1606981 LSM12 LSM12 homolog (S. cerevisiae) 17353931,15225602,14702039,12477932 124801 NM_152344,AC023855,CH471178,AF277193,AK055218,AL832076,BC016791,BC044587,BC066298,BC105288,CR597933 NP_689557,EAW51639,BAB70877,AAH16791,AAH44587,AAI05289,Q3MHD2,Q96AT0 Hs.355570 FLJ30656|MGC104211|PNAS-135 protein-coding 1642112 LSM12P LSM12 homolog (S. cerevisiae) pseudogene 11181995 653122 NG_005566,AC013302,CH471080 EAW63386 pseudo 1313874 LSM14A LSM14A, SCD6 homolog A (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 737633 17081983,16484376,15489334,14702039,12477932 737633 26065 NM_015578,NM_001114093,AC010614,AB069974,AB069975,AK027369,AK027643,AK127401,AL117499,AL833221,AL834398,BC016842 NP_056393,NP_001107565,BAC99045,BAC99046,BAB55066,BAB55259,CAB55964,CAD39060,AAH16842,Q8ND56 Hs.407368 C19orf13|DKFZP434D1335|FAM61A|RAP55 chromosome 19 open reading frame 13 protein-coding 1351489 LSM14B LSM14B, SCD6 homolog B (S. cerevisiae) 16344560,15489334,14702039,12477932,11780052 149986 NM_144703,AL078633,AL137077,CH471077,AF165185,AF172328,AK058202,BC035702,BC054888,BC057387,BM547301,BX370449,BX375905,CR618201,CR622108,CX166280,DB336439 NP_653304,CAI11047,CAI11048,CAI11049,CAI11050,CAI11051,EAW75401,EAW75402,EAW75403,EAW75404,EAW75405,AAD46654,AAD52585,BAB71714,AAH54888,AAH57387,Q5TBQ1,Q7Z2U5,Q9BX40 Hs.105379 GDB:11504987 C20orf40|FAM61B|FLJ25473|FT005|LSM13|MGC61931|bA11M20.3 chromosome 20 open reading frame 40 protein-coding 1350592 LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10523320,15231747,12226669,18095154,16169070,15592455,15489334,14667819,14656967,12515382,12477932,11991638,11920408,10931946,10851237,8428774,16189514,10601333 57819 NM_021177,AF134726,AL662834,AL671762,AL929592,BA000025,CH471081,CR759787,CR759915,CR925765,AF136977,AF182288,AF196468,AJ245416,BC009192,CR542146,CR542157,CR601536 NP_067000,AAD21818,CAI17733,CAI18212,CAI18462,BAB63302,EAX03525,EAX03526,CAQ10128,CAQ07255,CAQ10626,AAG49438,AAD56226,AAG33023,CAB52190,AAH09192,CAG46943,CAG46954,Q6FGG1,Q9Y333,ABM83829,ABM87538 Hs.103106 C6orf28|G7b|YBL026W|snRNP protein-coding 1314318 LSM3 LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 15231747,10369684,16169070,15489334,14667819,12515382,12477932,11991638,11920408,10851237,10523320,16189514 27258 NM_014463,AC093495,CH471055,AF182289,AF182418,AJ238095,BC007055,CR457185 NP_055278,EAW64190,AAD56227,AAG14954,CAB45866,AAH07055,CAG33466,P62310,Q6IAH0 Hs.111632 SMX4|USS2|YLR438C protein-coding 1315632 LSM4 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 15231747,17353931,10523320,10369684,17178857,16189514,15905169,15489334,12515382,12477932,11920408,10931946,10851237,523320 25804 NM_012321,AC008397,CH471106,AF117235,AF182290,AF251218,AJ238096,BC000387,BC003652,BC022198,BC023665 NP_036453,EAW84686,EAW84687,EAW84688,EAW84689,AAF17216,AAD56228,AAF90055,CAB45867,AAH00387,AAH03652,AAH22198,AAH23665,Q9Y4Z0 Hs.515255 YER112W protein-coding 1318552 LSM5 LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10369684,15231747,15489334,14702039,12690205,12515382,12477932,11920408,11591653,10851237,10523320,16189514 23658 NM_012322,AACC02000087,AC018641,CH471073,AF182291,AJ238097,AK022772,AK024217,BC005938,BC040717,CR600225,CR607727 NP_036454,EAL24440,EAW93990,EAW93991,AAD56229,CAB45868,AAH05938,Q9Y4Y9 Hs.424908 FLJ12710|YER146W protein-coding 1345160 LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 15231747,10523320,15489334,12515382,12477932,11920408,10369684,16189514,10851237 11157 NM_007080,AC097372,CH471056,AF182292,AI351504,AJ238098,BC016026,BC019894,DB465201 NP_009011,AAY41032,EAX05029,EAX05030,EAX05031,AAD56230,CAB45869,AAH16026,P62312,Q4W5J5,ABM83254,ABW03308 Hs.190520 GDB:9956981 YDR378C protein-coding 1313330 LSM7 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM] 1580863 10523320,12165861,15231747,15489334,15057824,14667819,12515382,12477932,11920408,11591653,10851237,14603251,15452143 51690 NM_016199,AC005258,CH471139,AF182293,BC018621,BI553911 NP_057283,AAC25622,AAG45442,EAW69389,EAW69390,AAD56231,AAH18621,O75243,Q9UK45,ABM86086,ABM86327,ABW03771 Hs.512610 YNL147W protein-coding 1318211 LSM8 LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae) This gene is a member of the LSm family and encodes a protein with a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. The protein partners with six paralogs to form a heteroheptameric ring which transiently binds RNAs and is involved in the general maturation of RNA in the nucleus. 1580863 10523320,15231747,16344560,16051491,15489334,14667819,12853948,12690205,12477932,11920408,10369684,9847074,8889548 51691 NM_016200,AC006389,CH236947,CH471070,AF182294,AL600056,BC002742,BC022440,BC042464,BC045532,BC053644,BC064376,BM972935,DA112078,DA318705,DB275674 NP_057284,AAD15542,EAL24351,EAW83535,EAW83536,EAW83537,AAD56232,AAH02742,AAH22440,AAH45532,O95777,Q86XF3 Hs.657737 YJR022W protein-coding 1603947 LSMD1 LSM domain containing 1 12477932 84316 NM_032356,AC104581,CH471108,AF530060,BC006407,BC033861,BC051846,BC059944 NP_115732,EAW90123,AAQ09944,AAH06407,AAH33861,AAH51846,AAH59944,Q9BRA0,ABM84216,ABM84245,ABM87633 Hs.565094 MGC14151|MGC74837|PFAAP2 protein-coding 1314573 LSP1 lymphocyte-specific protein 1 This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 8274738,2174784,18437204,17997823,17827388,17529967,17481585,17296787,15489334,15188402,15090600,14702039,12972289,12477932,11746662,10925289,10233704,9890705,9373149,8995217,8838798,8468046,8125298,7706408,7561054,2674678,2295815 4046 NM_002339,NM_001013253,NM_001013254,NM_001013255,AC051649,AF043107,AF043349,CH471158,S58726,AK056576,AK092071,AK093859,AK129684,AK222733,AK290279,AK292033,BC001785,BQ893821,CR541728,CR541754,CR594777,CR595099,CR601725,CR603863,CR604737,CR605591,CR607980,CR622813,CR625395,S67783,X55188 Q9UEV7,Q9UEV8,Q6ZPA3,NP_002330,NP_001013271,NP_001013272,NP_001013273,AAB99825,AAC00495,EAX02470,EAX02471,AAD13906,BAC85216,BAD96453,BAF82968,BAF84722,AAH01785,CAG46529,CAG46554,AAB29545,CAA38971,P33241,Q16002,Q53H48,Q6FHM3 Hs.56729 GDB:127454 WP34|pp52 protein-coding 736744 LSR lipolysis stimulated lipoprotein receptor 17975147,16303743,16083285,15489334,15324660,15057824,14702039,12477932,10224102,15778465 51599 NM_015925,NM_205835,AC002128,AD000684,AF130366,AK075426,AK126834,AK130367,BC000015,BC004381,BC047376,NM_205834,BQ711340,CR601464,CR601774,CR608562,CR611725,CR614787,CR615213,CR620742,CR621125 NP_991403,NP_057009,NP_991404,AAB58317,AAB51178,AAD22101,BAC11614,BAC86714,AAH00015,AAH04381,AAH47376,Q86X29,Q8NBM0,Q9BT33,Q9BWS2 Hs.466507 LISCH7|MGC10659|MGC48312|MGC48503 liver-specific bhlh-zip transcription factor 7 protein-coding 736635 LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Two transcript variants encoding the same protein have been found for this gene. 1580863,1300048,1626611 7639730,16806233,15790807,15525992,15489334,14766201,14702039,12477932,11421484,10830953,10598817,9763219,8889548,8820110,8655142,8593458,3515096 1626611 4047 NM_001001438,NM_002340,AJ239031,AP001468,AP001469,CH471079,AK096769,AK098352,AK226141,AY927524,BC035638,BM662957,BU728696,BX443698,D63807,S81221,U22526,X87809 NP_001001438,NP_002331,CAB42828,EAX09299,EAX09300,EAX09301,EAX09302,BAC04859,BAC05289,AAH35638,BAA09875,AAB36220,AAC50184,CAA61078,P48449,Q8N7J1,Q8N8I2,Q8NAP6,ABM82160,ABM85344,EAX09303 Hs.708002 GDB:642229 OSC 2,3-oxidosqualene: lanosterol cyclase protein-coding 1602168 LST-3TM12 organic anion transporter LST-3b 338821 NM_001009562,AC011604,AC087309,CH471094,AF401642 NP_001009562,EAW96417,EAW96418,EAW96419,AAQ03085,Q5JAR5,Q71QF0 Hs.449738 LST3 protein-coding 1350273 LST1 leukocyte specific transcript 1 7590964,10706707,16362817,14656967,14574404,12646700,12477932,11828009,10668961,10562324,9367684,8824804,1352700,11478849,14667819,10944527 7940 NM_007161,NM_205838,NM_205839,NM_205840,NM_205837,AF129756,AL662801,AL662847,AL929587,BA000025,BX248519,BX927320,CH471081,Y18490,CR753892,CR759886,CR942185,M74228,U00921,AF000424,AF000425,AF000426,AI091696,AV711621,AY852265,AY852266,BC103855,BC103856,BI838080,BX647293,CD742958,CR591668,DQ099382,Y18486,Y18487,Y18488,Y18489 NP_009092,NP_995310,NP_995311,NP_995312,NP_995309,AAD18090,CAI18294,CAI18295,CAI18296,CAI18297,CAI18298,CAI18299,CAI18300,CAI18301,CAM25582,CAM25583,CAM25584,CAM25585,CAM25586,CAM25587,CAI17680,CAI17683,CAI17684,CAI17685,CAI17687,CAI18651,CAI18652,CAI18655,CAI18656,CAI18657,CAI18658,CAI18659,BAB63394,CAI41942,CAI41943,CAI41944,CAI41945,CAI41946,CAI41948,CAI41949,CAI41950,CAI41951,CAI41952,CAQ09997,CAI17686,CAQ09999,CAQ10000,CAQ10001,CAQ10002,CAQ10003,CAQ10004,CAQ10005,CAQ10006,CAQ10007,EAX03427,EAX03428,EAX03429,EAX03430,EAX03431,EAX03432,EAX03433,EAX03434,EAX03435,EAX03436,CAQ09998,EAX03437,CAB59903,O00453,Q2HNT3,Q2HNT4,Q4F969,Q5HYS9,Q5HYT0,Q5HYT5,Q5SP24,Q5STA5,Q5STA6,Q5STA7,Q5STA8,Q5STB1,CAB59906,EAX03438,CAQ06937,CAQ06938,CAQ06939,CAQ06940,CAQ06941,CAQ06942,CAQ06943,CAQ06944,CAQ06945,CAQ06946,CAQ06947,CAQ06948,CAQ06949,CAQ06950,CAQ07231,CAQ07232,CAQ07233,CAQ07234,CAQ07235,CAQ07236,CAQ07237,CAQ07238,CAQ07239,CAQ07240,CAQ07241,CAQ07715,CAQ07716,CAQ07717,CAQ07718,CAQ07719,CAQ07720,CAQ07721,CAQ07722,CAQ07723,CAQ07724,CAQ07725,AAB57724,AAB86998,AAB86999,AAB87000,AAX45331,AAX45332,AAI03856,AAI03857,AAZ13758,CAB59904,CAB59905,CAB60038 Hs.436066 GDB:696243 B144|D6S49E|LST-1|MGC119006|MGC119007 protein-coding 1345394 LTA lymphotoxin alpha (TNF superfamily, member 1) Lymphotoxin alpha, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. LTA is highly inducible, secreted, and exists as homotrimeric molecule. LTA forms heterotrimers with lymphotoxin-beta which anchors lymphotoxin-alpha to the cell surface. LTA mediates a large variety of inflammatory, immunostimulatory, and antiviral responses. LTA is also involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. 1580414,1580415,1580416,1580417,1581940,1581936,1625035,1625033,1625034,1625036,1625042,1581937,1581939,1580863,1625038 15951664,15932622,15890243,15861005,15851552,15843211,15811521,15803361,15729581,15718364,15713215,15699425,15695296,15667484,15663746,15649304,15639929,15639341,15583987,15548263,15533732,15526004,15517637,15513316,15489334,15457442,15381184,15380900,15354858,15306845,15306179,15286263,15248209,15236755,15224026,15219382,15194285,15187748,15175864,15174288,15159312,15129282,15128916,15077289,15061799,15052269,15041959,18230628,18190265,18071035,18069935,18062795,18032375,17989341,17989340,17981284,17971052,17953695,17767555,17767060,17700210,17640627,17640324,17635597,17595314,17559370,17536219,17530646,17521734,17517687,17497114,17493152,17485095,17483704,17450233,17444864,17444587,17388919,17380888,18271063,16874159,16872485,16867312,16839190,16814297,16788244,16775170,16728705,16723241,16702430,16643431,16609369,16545485,16447204,16389181,16386648,16323614,16313841,16298864,16293872,16276011,16249504,16246225,16215460,16204594,16193177,16186631,16164697,16135717,16132956,16107511,16095118,16054631,15999154,15976383,15973460,15969671,16882065,15955450,17355643,17353895,17349875,17348243,17345061,17336158,17335371,17332138,17315188,17311253,17295710,17220333,17216494,17212707,17207711,17194634,17174749,17140746,17113632,17113059,17103073,17071996,17065682,17045328,17040205,17036337,17029750,17018637,17014622,16988060,16979413,16971410,16950634,16939911,16931032,16928504,6334807,18457972,18442814,18409070,18405969,18398039,18394614,18385169,18384488,18354254,18349535,18299433,18273643,15034015,15009068,14987295,14681301,14656967,14647194,14637275,14635012,14617046,14593215,14572794,14569193,14566095,12953135,12917036,12915440,12906716,12888330,12828656,12780951,12770792,12768436,12746914,12717265,12714268,12709814,12691703,12679941,12661999,12651071,12648734,12622777,12568117,12566517,12559634,12558135,12545006,12528108,12519452,12478078,12477932,12439617,12426569,12414751,12392859,12351419,12169181,12164325,12149604,12126516,12116197,12082592,12047333,12030733,12028020,11975986,11924527,11841484,11841482,11823516,11820636,11808761,11800584,11781708,11775944,11737072,11732226,11591192,11576577,11574100,11544434,11410733,11401880,11399938,11371414,11349201,11334675,11319038,11258696,11257271,11250044,11243953,11233912,11210078,11196686,11194890,11164894,11163081,11120931,11113269,11092520,11037831,10668961,10202016,9552007,9480751,9367684,9317127,9307242,9282784,9235946,9185077,9153189,8912010,8629302,8499947,8387891,8323280,8171323,8139045,8123048,8081366,7995952,7916655,7818827,7695626,7601445,7590964,6608523,3555974,3536896,3001529,3001109,2995927,2567059,2545693,2243081,2160731,1733919,1671667,1670638,1451807,1353024,1279199,16934308,16375755,16189514 1580414,1580415,1580416,1581940,1581936,1625035,1625033,1625034,1625036,1625042,1581937,1581939,1625038 4049 BC034729,CR542253,CR542273,CR603193,D00102,D12614,DQ123821,DQ123822,DQ123823,DQ123824,DQ123825,DQ123826,DQ123827,X01393,Z15026,A06316,AY274913,AY274914,AY274915,AY274916,AY274917,AY274918,AY274919,AY274920,AY274921,AY274922,AY274923,AY274924,AY274925,AY274926,BA000025,BX248519,BX927320,CH471081,CS081477,M16441,M55913,X02911,Y14768,NM_000595,NG_007462,AB088112,AB103618,AB202113,AF129756,AL662801,AL662847,AL929587,AY070490,AY216498,AY274903,AY274904,AY274905,AY274906,AY274907,AY274908,AY274909,AY274910,AY274911,AY274912 CAA78746,AAH34729,CAG47049,CAG47069,BAA00064,BAA02139,AAZ32914,AAZ32915,AAZ32916,AAZ32917,AAZ32918,AAZ32919,AAZ32920,CAA25649,P01374,Q45NE3,Q45NE4,Q45NE5,Q45NE7,Q45NE8,Q45NE9,Q5HYS4,Q5SP42,Q5ST95,Q5STV3,Q6FG55,Q6WQT9,Q6WQU7,Q6WQV4,Q6WQV6,Q6WQV7,CAA00536,ABM82045,ABM85224,Q45NE6,AAP51431,AAP51432,AAP51433,AAP51434,AAP51435,AAP51436,AAP51437,AAP51438,AAP51439,AAP51440,AAP51441,AAP51442,AAP51443,AAP51444,BAB63397,CAI41938,CAQ09992,EAX03422,EAX03423,CAI95949,AAA61199,AAB59455,CAA26670,NP_000586,BAC54943,BAF31278,BAE78638,AAD18092,CAI18291,CAI17677,CAI18648,AAL49956,AAO21135,AAP51421,AAP51422,AAP51423,AAP51424,AAP51425,AAP51426,AAP51427,AAP51428,AAP51429,AAP51430,CAA75071 Hs.36 GDB:120442 LT|TNFB|TNFSF1 protein-coding 1322731 LTA4H leukotriene A4 hydrolase 1580863 11154734,1881903,17353931,11175901,18323512,18318662,16698924,16293801,16282974,15886380,15489334,12477932,11675384,11451962,10887124,9733439,9578147,9395533,8615763,7843421,7628486,6490615,3654641,3038871,2821541,2244921,2233358,1975494,1897988,1516710,1357660 4048 NM_000895,AC007298,CH471054,U27293,AB209740,BC032528,BC036555,BX647158,CR457068,CR594064,CR596162,J02959,J03459 NP_000886,EAW97557,EAW97558,EAW97559,EAW97560,AAA89077,BAD92977,AAH32528,AAH36555,CAG33349,AAA36177,AAA36176,P09960,Q49AK0,Q59ES1,Q6IAT6 Hs.524648 GDB:128992 protein-coding 1353964 LTB lymphotoxin beta (TNF superfamily, member 3) Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 7916655,9299492,17981284,16702430,15969671,15910501,15489334,15248211,15077289,15034048,14656967,12477932,12474234,11823516,10668961,10318773,10202016,9545284,9480751,9367684,9317127,9185077,8824804,8629302,8586432,8499947,8081366,7995952,7601445,7590964,2995927,1714477,1671667,1670638 4050 NM_009588,NM_002341,AB088106,AB103612,AB202114,AF129756,AL662801,AL662847,AL929587,AY070219,AY216497,BA000025,BX248519,BX927320,CH471081,CR753892,CR759886,CR942185,CS081478,L11016,Y14768,BC055090,BC069330,BC093783,L11015,U79029,U89922 NP_033666,NP_002332,BAC54938,BAF31273,BAE78640,AAD18089,CAI18293,CAI17679,CAI18650,AAL49954,AAL49955,AAO21134,BAB63395,CAI41941,CAQ09994,EAX03425,EAX03426,CAQ06936,CAQ07228,CAQ07712,CAI95950,AAA99888,CAA75069,AAH69330,AAH93783,AAA36191,AAB37342,AAC51769,Q06643,Q52LU8,Q5STB2 Hs.376208 GDB:683333 TNFC|TNFSF3|p33 protein-coding 732819 LTB4DH leukotriene B4 12-hydroxydehydrogenase 1580863 8576264,15489334,15164053,14702039,12477932 22949 NM_012212,AL135787,CH471105,AK091948,AK289597,BC035228,D49387 NP_036344,CAC22151,CAC22152,CAI12401,CAI12402,EAW59074,EAW59075,EAW59076,EAW59077,EAW59078,BAF82286,AAH35228,BAA08382,Q14914,Q5JVP2,Q5JVP3,Q5JVP4,Q9H1X5 Hs.584864 GDB:4627512 MGC34943 dithiolethione-inducible gene-1 protein-coding 1348020 LTB4R leukotriene B4 receptor 1581956,1580863,1581954 9177352,8702478,18421027,18323512,17931111,17445804,17237498,17158791,17139258,17075244,16920986,16624877,16493075,16293697,15814727,15789613,15728714,15489334,14688279,12943671,12913925,12902330,12895595,12664610,12477932,12374694,12244116,12163367,12077128,11907121,10934230,10934229,9742207,9268704,8921391,8889549,8558062 1581956,1581954 1241 NM_181657,AB008193,AL096870,AY322535,CH471078,U33448,AA021034,AW242534,BC004545,BT007267,BU146237,D89078,D89079,U41070,X98356 NP_858043,BAB00611,AAP84348,EAW66029,AAB16747,AAH04545,AAP35931,BAA20423,BAA20424,AAC50628,CAA67001,Q15722,Q53XV5,ABM84725,ABW03628 Hs.655431 GDB:3929191 BLT1|BLTR|CMKRL1|GPR16|LTB4R1|LTBR1|P2RY7|P2Y7 protein-coding 1353949 LTB4R2 leukotriene B4 receptor 2 1580863 10889186,10913346,18421027,18323512,18082638,16920986,16624877,15489890,12913925,12895595,12477932,12044878,11006272,10934230,10934229,10913347 56413 NM_019839,AB008193,AB083604,AJ278605,AL096870,AY268433,AB029892,AB032558,AB044402,AF277230,AF308571,BC000982,BC038437,BC119674,BC127643 NP_062813,BAB00610,BAB89317,CAB96134,AAP23200,BAA99553,BAD83590,BAA99539,AAF81261,AAG40857,AAI27644,Q5KU28,Q9NPC1 Hs.642693,Hs.657595,Hs.711130 GDB:11510568 BLT2|BLTR2|JULF2|KPG_004|NOP9 protein-coding 68547 LTBP1 latent transforming growth factor beta binding protein 1 The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 8537398,17580303,17293099,16825507,16713569,16554035,15564041,15215809,15041717,14626352,12962157,12477932,12429738,12358597,11104663,10930463,10743502,10646116,9274625,9060478,8756760,8617200,8287682,2350783 4052 AL133244,NM_206943,NM_000627,AC019127,AC019195,AC020594,CH471053,L48925,AA935267,AB208801,AF489528,AL703596,BC130289,BX103725,BX472809,BX492839,CA419949,CF995689,M34057 NP_996826,NP_000618,AAY24260,AAY14953,AAY15036,EAX00435,EAX00436,EAX00437,EAX00438,EAX00439,AAA96327,BAD92038,AAM03124,AAI30290,AAA61160,P22064,Q14766,Q53SD8,Q53SF3,Q53SG1,Q59HF7 Hs.706751 GDB:217059 MGC163161 lanc (bacterial lantibiotic synthetase component c)-like 1 protein-coding 68549 LTBP2 latent transforming growth factor beta binding protein 2 The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. 1580863 8697098,7798248,17581631,17293099,15063762,12716902,12508121,12477932,11870232,11104663,10930463,10743502,9709808,9685426,9150447,8964588,7719025 4053 NM_000428,NG_007117,AC005479,AC013451,CH471061,AB209865,AF113211,BC032434,BC047742,BC062686,BC078659,CB054045,S82451,Z37976 NP_000419,AAF87081,EAW81182,EAW81183,BAD93102,AAG39282,AAH78659,AAB37459,CAA86030,Q14767,Q59EE6,Q6AZ94,Q9H3F3 Hs.512776,Hs.597522 GDB:453890 C14orf141|LTBP3|MSTP031 protein-coding 736405 LTBP3 latent transforming growth factor beta binding protein 3 16223572,16157329,15489334,15231748,14702039,12477932,12358597,12154076,12062452,11846885,11104663,10930463,10743502,9620332,7798248,7719025 4054 AP000769,AP001362,CH471076,AF011407,AF135960,AF135961,AF318354,AK024477,AK090750,AK097212,NM_021070,AK124524,AK126126,AL117551,BC008761 NP_066548,EAW74401,EAW74402,EAW74403,EAW74404,EAW74405,AAB64201,AAF62352,AAF62353,AAL55861,BAB15767,CAB55988,AAH08761,Q8WYU6,Q9NS15,Q9P0Z7 Hs.289019 GDB:568901 DKFZP586M2123|FLJ33431|FLJ39893|FLJ42533|FLJ44138|LTBP-3|LTBP2|pp6425 protein-coding 1315988 LTBP4 latent transforming growth factor beta binding protein 4 Transforming growth factor-beta, or TGFB (see TGFB1; MIM 190180), remains biologically latent after secretion, blocked from activity by its N-terminal propeptide (the latency-associated peptide, or LAP). TGFB is activated by its dissociation from LAP. The latent form of TGFB is secreted in association with a latent TGFB-binding protein, or LTBP (see LTBP1; MIM 150390), and assembled into the extracellular matrix. LTBPs are mainly composed of epidermal growth factor (EGF; MIM 131530)-like repeats and protein domains with 8-cysteine repeats, both of which are also found in fibrillins (e.g., MIM 134797). See Oklu and Hesketh (2000) [PubMed 11104663] for a review of the LTBP gene family.[supplied by OMIM] 1582112 9660815,18487557,16713569,16456143,16157329,11683420,11104663,9271198 1582112 8425 NM_003573,NM_001042544,NM_001042545,AC010412,CH471126,AF051344,AF051345,AF054501,AF054502,AK074499,AK128191,BQ001109,Y13622 NP_003564,NP_001036009,NP_001036010,EAW56982,EAW56983,EAW56984,EAW56985,AAC39879,AAC39880,AAC39881,AAC39882,BAC11024,CAA73944,O75440,O75441,Q8N2S1 Hs.466766 GDB:9955130 FLJ46318|FLJ90018|LTBP-4|LTBP-4L protein-coding 1319795 LTBR lymphotoxin beta receptor (TNFR superfamily, member 3) The protein encoded by this gene is a member of the tumor necrosis factor (TNF) family of receptors. It is expressed on the surface of most cell types, including cells of epithelial and myeloid lineages, but not on T and B lymphocytes. The protein specifically binds the lymphotoxin membrane form (a complex of lymphotoxin-alpha and lymphtoxin-beta). The encoded protein and its ligand play a role in the development and organization of lymphoid tissue and tranformed cells. Activation of the encoded protein can trigger apoptosis. 1580863 12393901,12761501,8171323,17896993,17360402,17336158,17010447,16934497,16002734,15917993,15489334,14702039,14517219,12571250,12566458,12485937,12477932,12466117,12419817,12169272,12083416,10799510,10318773,10207006,10200501,9817170,9626059,9511754,9202035,9122217,8995654,8663299,8660894,8530100,8486360,7916655,9371602 4055 NM_002342,AB125676,AC005840,CH471116,AK027080,AK095418,BC026262,CR620746,CR626362,L04270 NP_002333,BAD01488,EAW88801,EAW88802,AAH26262,AAA36757,P36941,Q75UT6,ABM82921,ABM86111 Hs.1116 GDB:1230195 CD18|D12S370|LT-BETA-R|TNF-R-III|TNFCR|TNFR-RP|TNFR2-RP|TNFRSF3 protein-coding 733491 LTC4S leukotriene C4 synthase The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family includes a number of human proteins, several of which are involved the production of leukotrienes. This gene encodes an enzyme that catalyzes the first step in the biosynthesis of cysteinyl leukotrienes, potent biological compounds derived from arachidonic acid. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as human bronchial asthma. This protein localizes to the nuclear envelope and adjacent endoplasmic reticulum. 1300048 8052639,1454853,18366797,18323512,18276912,17924829,17883728,17632548,17632546,17483957,17460547,17291864,17153879,17110605,17063752,16730545,16675353,16340173,16293801,16211251,16024972,15530365,15489334,15131571,14749922,14520724,12968987,12816731,12728163,12664565,12591277,12589355,12477932,12360108,12063521,11934880,11770699,11034337,10970815,10673221,10591082,10436863,9435249,9113110,9092565,8626689,8446623,7937884,7663172,7599836,1517222,8898379 4056 NM_145867,AC008393,CH471165,U50136,U62025,AI480325,BC029498,BI597970,BI819419,U09353,U11552 NP_665874,EAW53796,EAW53797,EAW53798,EAW53799,AAC50476,AAB06723,AAH29498,AAA20467,AAA50555,Q16873,Q9UC73,Q9UD18,ABM81888,ABM85060 Hs.706741 GDB:384080 MGC33147 protein-coding 1313477 LTF lactotransferrin With transferrin (MIM 190000) and melanoma tumor antigen p97 (MIM 155750), lactotransferrin belongs to a family of iron-binding proteins that modulate iron metabolism, hemopoiesis, and immunologic reactions. They are evolutionary products of gene duplication, and all 3 are encoded by genes on 3q.[supplied by OMIM] 1580863 11730482,11702692,11697537,11675140,11549422,11083760,10944471,10666301,10558865,10340976,10089508,10089347,9873069,9359845,9003186,8870657,7762432,7744878,7049727,6794640,6510420,3995055,3477300,3356163,3028636,2585506,11937551,11911118,11908641,11908638,9770539,18156281,18022620,17947640,17597152,17543335,17515863,17503830,17476971,17475866,17461450,17390038,17342646,11787671,11756570,11748357,17211147,17208010,17079302,17030385,17015741,16954396,16936811,16936805,16936800,16842782,16820307,16787913,16769765,16650524,16644090,16432833,16261256,16261253,16208406,16152584,15993972,15955101,15851553,15793153,15543612,15525592,15489334,15378004,15364102,15299793,15297857,15222485,15222484,15221967,15166119,14702039,14573629,12826902,12788072,12774664,12766201,12710738,12646274,12565886,12563088,12535064,12525164,12477932,12450380,12438385,12296849,12165535,12165435,12097406,12065686,12037568,2402455,2374734,2049066,1703177,1661314,1544444,1480183,1464627,1369293,1327110,16928883,15709021,9781360,16189514,17353931,11313366,9223490,15588942,12522210 4057 NM_002343,AC098613,AF508798,AY156717,CH471055,M73700,S52659,U95626,AF332168,AK093852,AK290859,AK292813,AY137470,AY165046,AY178998,AY360320,AY493417,AY875691,BC015822,BC015823,BC022347,CD722125,DQ522304,M18642,M83202,M83205,M93150,U07643,X52941,X53961 NP_002334,AAO14686,AAN84790,EAW64767,AAA59479,AAB24877,AAB57795,AAG48753,BAF83548,BAF85502,AAN11304,AAN63998,AAN75578,AAR12276,AAS72878,AAW71443,AAH15822,AAH15823,AAH22347,ABF69105,AAA86665,AAA59511,AAA58656,AAA36159,AAB60324,CAA37116,CAA37914,P02788,Q19KS2,Q2TUW9,Q5DSM0,Q5EK51,Q8IWS6,Q8IX02,ABM83781,ABM87101 Hs.529517 GDB:119368 GIG12|HLF2 protein-coding 1319608 LTK leukocyte receptor tyrosine kinase The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 7685902,16344560,14695357,12477932,12237455,12107410,9223670,8995435,8910363,8427607,8084603,7851890,2836739,2320375,2156206,1655406 4058 NM_206961,NM_002344,AC016134,AC087721,CH471125,BC045607,BX329448,CA394397,CR611113,D16105,DA452723,DB331746,X52213,X60702 NP_996844,NP_002335,EAW92494,EAW92495,EAW92496,EAW92497,EAW92498,EAW92499,EAW92500,EAW92501,AAH45607,BAA03679,CAA36460,CAA43113,P29376,Q4G0N3 Hs.434481 GDB:127768 TYK1 protein-coding 1322627 LTV1 LTV1 homolog (S. cerevisiae) 14702039,12477932 84946 NM_032860,AL049844,CH471051,AK027815,AK091447,BC009855,CR593625,CR615418 NP_116249,CAI21442,EAW47858,EAW47859,EAW47860,BAB55388,AAH09855,Q96GA3 Hs.185675 C6orf93|FLJ14909|dJ468K18.4 protein-coding 1316796 LUC7L LUC7-like (S. cerevisiae) The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM] 1580863 11170747,11157797,9373149,8125298,17353931,17081983,15489334,15383276,14702039,12477932 55692 CR590928,CR601233,CR610923,BX647161,CR590109,CR617017,CR622525,NM_018032,NM_201412,AE006462,CH471112,DQ431198,Z69890,AJ404326,AK001093,AK097974,AK223084,AY005111,BC003194,BC065198 Q1W6G4,Q53G47,Q9NQ29,NP_060502,NP_958815,AAK61218,EAW85850,EAW85851,EAW85852,EAW85853,EAW85854,EAW85855,EAW85856,EAW85857,EAW85858,EAW85859,EAW85860,ABD95913,CAB93981,CAB93982,BAA91500,BAD96804,AAG22846,AAH03194,AAH65198 Hs.16803 GDB:10796864 FLJ10231|LUC7-LIKE|LUC7B1|SR+89 protein-coding 1318546 LUC7L2 LUC7-like 2 (S. cerevisiae) 737633,1580863 17353931,17081983,16344560,16169070,15635413,15489334,15383276,15324660,15231748,14702039,12853948,12477932,10810093 737633 51631 AC083880,AC083883,CH236950,CH471070,AF151817,AF151832,AK001476,AK001519,AK022895,AK092044,AK093864,AK095839,BC017163,BC041001,BC042625,BC050708,BC056886,CR603944,CR613966,DA342563,NM_016019 NP_057103,AAS07477,EAW83916,EAW83917,EAW83918,AAD34054,AAD34069,BAA91713,BAA91737,BAB14297,AAH17163,AAH42625,AAH50708,AAH56886,Q75M91,Q9Y383 Hs.709340 CGI-59|CGI-74|FLJ10657|LUC7B2 protein-coding 1344357 LUM lumican This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. 1582117,1582123,1582120,1582121,1582122,1580863 10892350,10802664,14718574,10734230,7665616,18093185,17671699,17558846,17050378,16902402,16760896,16335952,15505028,15489334,15466200,15336555,15149859,14996436,14760718,14720136,12477932,12366811,11956587,11016924,10656267,9373149,8889549,8595806,8125298,7558030 1582117,1582123,1582120,1582121,1582122 4060 NM_002345,AC078873,CH471054,AA036658,AK223177,BC007038,BC035997,BG548387,BT006707,CR590017,CR591759,CR594137,CR598016,CR599122,CR600007,CR605833,CR606101,CR607086,CR607089,CR609107,CR609587,CR610309,CR612809,CR613590,CR614927,CR615450,CR616086,CR616823,CR616860,CR618650,CR620237,CR621524,CR622333,CR623039,CR624582,CR625135,U18728,U21128 NP_002336,EAW97449,BAD96897,AAH07038,AAH35997,AAP35353,AAA85268,AAA91639,P51884,Q53FV4,ABM83480,ABM86691 Hs.406475 GDB:434301 LDC|SLRR2D protein-coding 736317 LUZP1 leucine zipper protein 1 This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. 61655 17081983,16710414,15489334,14702039,12693554,12477932,8812416 61655 7798 NM_033631,AL031428,AL049576,AL161672,CH471134,AK000297,AK025345,AK074153,AK093016,AL831896,BC002428,BC016175,BC033219,BC051733 NP_361013,CAI19706,EAW95034,EAW95035,EAW95036,BAB84979,AAH16175,AAH33219,AAH51733,Q05DE3,Q5TH92,Q86V48,ABZ92513 Hs.257900 GDB:9955325 FLJ35697|KIAA0601|LUZP protein-coding 1347178 LUZP2 leucine zipper protein 2 12975309,12856284,12477932 338645 BC132829,NM_001009909,BC042863,AC023869,AC040968,AC067902,AC087373,AC115990,AC135168,CH471064,AK126974,AK127695,AL832641,AY164460,AY358386,X81895 NP_001009909,EAW68308,BAC87089,CAD90000,AAQ88752,AAI32830,Q6UXE7,Q6ZS65,Q86TE4 Hs.144138,Hs.655032 FLJ45795|KFSP2566|PRO6246 protein-coding 1352485 LUZP4 leucine zipper protein 4 16344560,14702039,12032826,11051238 51213 AF124430,AK093369,AW118228,BC128134,BC128135,DB041564,NM_016383,AL109751,CH471120 EAX02616,AAF28870,AAI28135,AAI28136,Q5JX98,Q9P127,NP_057467,CAC09922,CAI42482 Hs.242183 CT-8|CT28|HOM-TES-85 protein-coding 2290193 LUZP6 leucine zipper protein 6 MPD6 is a tumor antigen encoded by a cryptic ORF in the 3-prime UTR of myotrophin (MTPN; MIM 606484) (Xiong et al., 2006 [PubMed 16982933]).[supplied by OMIM] 16982933 767558 AF130088,AY611627 AAG35514,AAU14892,Q538Z0,Q9H388 Hs.654894 MPD6|MTPNUT protein-coding 1345850 LUZPP1 leucine zipper protein pseudogene 1 11896456 83598 NG_005650,AC104304,AJ312775 CAC37400,Q9BQQ8 GDB:11506219 LUZP3 pseudo 737325 LXN latexin Latexin is a specific inhibitor of zinc-dependent metallocarboxypeptidases (Pallares et al., 2005 [PubMed 15738388]).[supplied by OMIM] 1580863 17353931,15738388,15489334,12477932,11455960,10350638 56925 NM_020169,AC025033,AC080013,AF303587,CH471052,AF087851,AF282594,AF282626,BC005346,BC008438,CR605027,CR622283 NP_064554,AAL09331,EAW78683,EAW78684,AAP97162,AAK69518,AAF82807,AAH05346,AAH08438,Q9BS40 Hs.478067 ECI|TCI protein-coding 1314571 LY6D lymphocyte antigen 6 complex, locus D 1580863 7790363,15489334,15340161,12477932,9551972,9366413,8889548 8581 NM_003695,AC083841,CH471162,U66837,Y12642,BC022806,BC031330,BC034542,BM019592,BU689475,X82693 NP_003686,EAW82297,EAW82298,AAB07524,CAA73189,AAH22806,AAH31330,AAH34542,CAA58014,Q14210,Q8N4D8 Hs.415762 E48 protein-coding 1351321 LY6E lymphocyte antigen 6 complex, locus E 1580863 8650192,15489334,12516096,12477932,11784869,11714798,11576217,9575182,9551972,9373149,9366413,8757598,8125298 4061 NM_002346,NM_001127213,AC083982,CH471162,U66711,AF085875,AK129615,AK223074,BC003392,BC119708,BC119709,BU625581,CB138313,CR593133,CR593361,CR593965,CR594748,CR594916,CR597237,CR597286,CR599019,CR599186,CR601741,CR602572,CR603269,CR603365,CR606037,CR606634,CR606660,CR610259,CR620041,CR623247,DB458093,U42376,U56145,Z68179 NP_002337,NP_001120685,EAW82285,EAW82286,EAW82287,EAW82288,EAW82289,EAW82290,AAB07513,BAD96794,AAH03392,AAI19709,AAI19710,AAC50519,AAC50616,CAA92321,Q16553,Q53G57,Q7Z787 Hs.521903 GDB:9848752 RIG-E|RIGE|SCA-2|SCA2|TSA-1 protein-coding 1349012 LY6G5B lymphocyte antigen 6 complex, locus G5B LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 12079290,8812450 58496 NM_021221,AF129756,AL662899,AL670886,AL805934,BA000025,CH471081,CR354443,CR753842,CR759761,AJ245417,AJ315545,AK289364,CF264683 NP_067044,AAF04397,CAI18395,CAI18396,CAI17802,CAI17803,CAI18525,CAI18526,BAB63385,EAX03476,EAX03477,CAQ07005,CAQ06575,CAQ10882,CAB52191,CAC85543,BAF82053,Q5SQ61,Q5SQ63,Q5SRQ2,Q5SST4,Q8NDX9,AAI40261,AAI46530 Hs.708719 GDB:11504808 C6orf19|G5b protein-coding 1346509 LY6G5C lymphocyte antigen 6 complex, locus G5C LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 12079290 80741 AF129756,AL662899,AL670886,AL805934,BA000025,BX511262,CH471081,AA179679,AA731226,AJ315540,AJ315541,AJ315542,AJ315543,AJ315544,NM_025262 NP_079538,AAD18080,CAI18398,CAI18399,CAI17805,CAI17806,CAI18528,CAI18529,BAB63384,CAM45829,EAX03478,EAX03479,EAX03480,EAX03481,CAC85522,CAC85542,Q5SQ59,Q5SRR3,Q5SRR4,Q5SST0,Q8NDY1,AAI40343,AAI41638 Hs.25738 GDB:11504810 C6orf20|G5c|LY6G5CA|LY6G5CB|NG33 protein-coding 1344908 LY6G6C lymphocyte antigen 6 complex, locus G6C LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 1304532 14656967,12975309,12477932,12079290,10384126 1304532 80740 AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,BX248244,CH471081,CR354443,CR759787,CR936239,AJ315533,AJ315534,AY359119,BC036302,NM_025261 NP_079537,AAD18076,CAB46081,CAI18405,CAI17812,CAM45766,BAB63379,CAM26091,EAX03490,EAX03491,CAQ07016,CAQ10104,CAQ08889,CAC85539,AAQ89477,AAH36302,O95867,Q5SRS8 Hs.241586 GDB:11504821 C6orf24|G6c|NG24 protein-coding 1354154 LY6G6D lymphocyte antigen 6 complex, locus G6D 12079290,10384126 58530 NM_021246,AF129756,AJ012008,AL662899,AL670886,AL844216,BA000025,CH471081,CR354443,CR759787,CR936239,AJ315535,AJ315536,AJ315537,BC125138 NP_067069,AAD18077,CAB46082,CAI96148,CAI96154,CAM25032,CAM25033,CAM45764,CAM45765,BAB63380,EAX03486,CAQ07014,CAQ07015,CAQ10102,CAQ10103,CAQ08887,CAQ08888,CAC85540,CAC85541,AAI25139,O95868,Q4VX49,Q4VX51,Q8NDY2 Hs.591792 GDB:11504819 C6orf23|G6D|LY6-D|MEGT1|MGC150334|NG25 protein-coding 1348643 LY6G6E lymphocyte antigen 6 complex, locus G6E LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM] 12477932,12079290,10553908,10384126 79136 NR_003673,AF129756,BA000025,CH471081,AJ245419,AJ315538,AJ315539,BC069141,AL662899,AL670886,AL844216 AAF04398,BAB63381,EAX03488,EAX03489,CAB52193,AAH69141,Q5SRS9,Q5SSU5,Q9UKT1,Q9UMP8,CAM25667,CAM25668,CAM25030,CAM25031,CAM45762,CAM45763 Hs.247883 GDB:11504817 C6orf22|G6e pseudo 1342827 LY6G6F lymphocyte antigen 6 complex, locus G6F The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM] 12852788 259215 NM_001003693,AF129756,AL662899,AL670886,AL805934,BA000025,CH471081,CR354443,CR753842,CR759787,AJ496460 NP_001003693,AAD18078,CAI18402,CAI17809,CAI18532,BAB63382,EAX03487,CAQ07010,CAQ06581,CAQ10098,CAD42968,Q5SQ64 Hs.591794 GDB:11510674 C6orf21|G6f|LY6G6D|NG32 protein-coding 1323593 LY6H lymphocyte antigen 6 complex, locus H 1580863 9799603,15489334,12477932,3028776 4062 NM_002347,AC083982,CH471162,AB012293,BC028894,BC030192,BC053355,BI914261,CR457034 NP_002338,EAW82277,EAW82278,EAW82279,BAA34115,AAH28894,AAH30192,CAG33315,O94772,ABM84514,ABM85870 Hs.159590 GDB:9848757 NMLY6 protein-coding 1345514 LY6K lymphocyte antigen 6 complex, locus K 737633 18089789,14702039,12516096,12477932 737633 54742 NM_017527,AC108002,CH471162,AJ001348,AK092545,BC001291,BC117142,BC117144,BE258596,BG491223,CR590427 NP_059997,EAW82310,EAW82311,CAA04692,AAH01291,AAI17143,AAI17145,Q17RY6 Hs.69517,Hs.699597 FLJ35226|HSJ001348 protein-coding 1343680 LY75 lymphocyte antigen 75 9553150,17592270,17229838,12824192,11058570,10980384,10233701,9862343,8855966,8595155 4065 NM_002349,AC009961,AC093873,AB208915,AF011333,AF064827 NP_002340,AAY14943,AAY24189,BAD92152,AAC17636,AAC62622,O60449,Q53R46,Q53TF5,Q59H44 Hs.153563 GDB:9784209 CD205|CLEC13B|DEC-205|GP200-MR6 protein-coding 1320546 LY86 lymphocyte antigen 86 1580863 9763566,18001295,16907704,15489334,15340161,14574404,12477932,10079183,9686597 9450 NM_004271,AL031123,CH471087,AB020499,AF057178,AY931019,BC038846,CD695164 NP_004262,CAB76262,EAW55191,EAW55192,BAA76410,AAC98152,AAY17402,AAH38846,O95711 Hs.653138 MD-1|MMD-1|RP1-80N2.1|dJ80N2.1 protein-coding 1318055 LY9 lymphocyte antigen 9 LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM] 1580863 18216865,16710414,16365421,15905546,15879090,12621057,12477932,12242590,11689425,11477068,11389028,11369645,10970093,9110174,8619474,8537117,7797269 4063 NM_002348,NM_001033667,AL121985,AF055708,AF055709,AF244129,AK128573,AK292048,AY007142,BC027920,BC042905,BC062589,BC064485,BC121049,BG546913,CR590858,CR595208,L42621,AL354714,CH471121 NP_002339,NP_001028839,CAH73509,CAH73510,CAH73511,CAH73512,CAH73513,EAW52698,EAW52699,EAW52700,EAW52701,AAF21753,AAF21754,AAG14995,BAC87505,BAF84737,AAG02002,AAH27920,AAH64485,AAI21050,AAA92623,Q05CA2,Q0VAI0,Q5VYH7,Q5VYH8,Q5VYH9,Q5VYI1,Q6P2J4,Q6ZR17,Q9HBG7,Q9UIB4,Q9UIB5,CAH72350,CAH72360,CAH72361,CAH72362,CAH72363,EAW52695,EAW52696,EAW52697 Hs.403857 GDB:1230479 CD229|SLAMF3|hly9|mLY9 protein-coding 1349135 LY96 lymphocyte antigen 96 The MD-2 protein appears to associate with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. 1580863 10359581,15276183,12447442,14556004,14625308,16024789,18325643,18251133,18215718,17977838,12477932,12324469,11976338,11923281,11717200,11593030,11466383,11435474,11160242,10891475,17956942,17934216,17803912,17592304,17569869,17545685,17404865,17093906,16940155,16785528,16754682,16547263,16338228,16275943,16177092,15694388,15557191,15489334,15337750,15328161,15121639,15111623,15057266,14607928,12960171,12754215,12738639,12642668,12594207 23643 AF168121,BC020690,NM_015364,AC022868,AC087672,CH471068,AB018549 BAA78717,AAF89635,AAH20690,Q9Y6Y9,NP_056179,EAW87024 Hs.660766 MD-2 protein-coding 1604346 LYAR hypothetical protein FLJ20425 17353931,11256614,16381901,16169070,16083285,15489336,15489334,14702039,12477932,12429849,11790298,11230166,11076863,8491376 55646 Q0JU47,Q9NX58 NM_017816,AC011744,CH471131,AF229835,AK000432,AL136750,BC015796,CR533548,CR605760,CR609495,CR616708 NP_060286,EAW82437,EAW82438,EAW82439,AAF42870,BAA91162,CAB66684,AAH15796,CAG38579,Q0JU47,Q9NX58,CAL37754,CAL37964 Hs.425427 FLJ20425 protein-coding 1347425 LYCAT lysocardiolipin acyltransferase 1580863 17675553,16620771,15152008,14702039,12975309,12477932,8889548 253558 NM_182551,NM_001002257,AC073255,AC132154,CH471053,AA455668,AK023269,AK095284,AY358702,BC146817,BF439401,BF513499,BU674604,BX537607,BX647953,CF264801 NP_872357,NP_001002257,EAX00495,BAC04522,AAQ89065,AAI46818,Q6UWP7 Hs.468048,Hs.662770 AGPAT8|ALCAT1|FLJ37965|UNQ1849 protein-coding 1602188 LYG1 lysozyme G-like 1 15489334,12975309,12574869,12477932,11329013 129530 NM_174898,AC079447,CH471127,AY358988,BC029126,BG194505 NP_777558,AAX93256,EAX01872,AAQ89347,AAH29126,Q53RV9,Q8N1E2 Hs.164589 SALW1939 protein-coding 1603530 LYG2 lysozyme G-like 2 The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). 15815621,15489334,12574869,12477932,8889548 254773 NM_175735,AC079447,CH471127,AF323919,AY026238,BC100882,BC100883,BC100884,BC100885,BQ184834,BQ187749 NP_783862,AAX93255,EAX01873,EAX01874,AAO32945,AAK16605,AAI00883,AAI00884,AAI00885,AAI00886,Q496G2,Q86SG7 Hs.436468 LYGH|MGC119046|MGC119047|MGC119049 lysozyme-like protein-coding 1606991 LYK5 protein kinase LYK5 12805220,17921699,15561763,15183188,14976552,14730349,14702039,14517248,12747765,12477932 92335 CR601658,NM_001003788,NM_001003787,NM_153335,NM_001003786,AC015651,AC046185,CH471109,CQ782708,AF308302,AK074771,AK075005,AK128173,AL832407,AY290821,BC043641,BG339051,BK001542,CR593241,CR601269 NP_001003788,NP_001003787,NP_699166,NP_001003786,EAW94283,EAW94284,EAW94285,EAW94286,EAW94287,EAW94288,EAW94289,EAW94290,CAF85943,AAG48269,BAC11197,BAC11349,BAC87308,CAI46194,AAP42280,AAH43641,DAA01797,Q5JPI2,Q6ZRK2,Q7RTN6,Q86YC8 Hs.514402 FLJ90524|PMSE|STRAD protein-coding 1343769 LYL1 lymphoblastic leukemia derived sequence 1 1580863 2752424,18160048,16094422,15489334,15057824,12477932,10023675,8649774,8628307,8432525,7957052,2268576,2067848,1763056 4066 NM_005583,AC005546,AC007787,CH471106,M22638,BC002796,CR608162,CR626486,M22637 NP_005574,AAC33149,EAW84344,AAA92488,AAH02796,AAA88084,AAA88085,P12980 Hs.46446 GDB:120158 protein-coding 732668 LYN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 1580863 7859737,8753773,9020138,10748115,3561390,7650013,11313396,10858437,18272395,18235045,18174230,18086677,17701175,17692281,17233630,17230226,17192257,17081983,16791881,16687414,16597828,16568084,16467205,16320343,16249387,15795233,15744341,15665117,15592455,15546919,15501776,15489334,15262430,15190072,15173188,15166241,15144186,14969582,14667819,14662334,12882960,12846735,12642697,12588871,12586738,12538589,12509383,12496276,12495897,12477932,12468540,12393728,12181444,12149655,12096713,12095152,11971018,11943772,11877294,11826756,11825908,11823534,11782428,11744621,11739737,11602604,11598012,11594778,11536198,11526478,11524430,9446655,9427690,9341198,9202419,9195899,9171348,9104825,9045636,8943850,8943427,8910336,8885868,8806683,8756631,8705993,8692915,8657103,8647200,8630736,8629002,8621719,8621063,8612628,8395016,8197119,8125304,8114715,8084605,8058772,8051175,7895172,7831290,7682714,7682059,7636265,7612892,7589101,7575560,7568175,7545683,7528770,7516469,11514608,11443118,11389892,11388899,11358993,11311138,11301322,11226282,11162638,11131153,11104670,11071635,11046148,11042209,10945997,10945993,10942405,10933394,10872802,10790433,10749872,10733577,10633085,10586033,10574931,11517336,10564259,10488096,10469124,10432313,10415030,10403844,10362357,10339479,10327049,10318860,10206997,10066823,10026222,9973406,9892651,9892356,9837776,9820500,9748231,9712716,9687533,9633884,9581808,9573010,9531288,7515933,2505253,2247464,2065070,1998697,1722201,1720539,1715582,1689310,1602151,1557373,1544885,1510669,1508184,16849330,16621960,16454711,15638726,15078178,12734410,10642173,10544125,12750561,17353931,14993658,10571082 4067 CB990993,CN480554,M16038,M79321,NM_002350,NM_001111097,AC018607,AC046176,CH471068,AK130135,AK290494,BC059394,BC068551,BC075001,BC075002,BC126456,BC126458 AAI26459,AAA59540,AAB50019,P07948,Q6NUK7,NP_002341,NP_001104567,EAW86764,EAW86765,EAW86766,EAW86767,EAW86768,BAF83183,AAH59394,AAH68551,AAH75001,AAH75002,AAI26457 Hs.699154 GDB:120159 FLJ26625|JTK8 lyn protein non-receptor kinase protein-coding 1604308 LYNX1 Ly6/neurotoxin 1 This gene encodes a member of the Ly-6/neurotoxin gene family, a group of lymphocyte antigens that attach to the cell surface by a glycosylphosphatidylinositol anchor and have a unique structure showing conserved 8-10 cysteine residues with a characteristic spacing pattern. Functional analysis indicates that this protein is not a ligand or neurotransmitter but has the capacity to enhance nicotinic acetylcholine receptor function in the presence of acetylcholine. This gene may also play a role in the pathogenesis of psoriasis vulgaris. Alternatively spliced variants encoding different isoforms have been identified. 17643396,17089039,16575903,12975309,12573258,12477932,10402197,8889548 66004 NM_023946,NM_177458,NM_177457,NM_177477,NM_177476,AC083841,CH471162,AB081838,AF321824,AI494395,AK123335,AK126845,AL353948,AW449754,AY358417,AY587277,BC014560,BC047923,BI603715,BM172253,BQ685632,BU683767,DB501423 NP_803253,NP_803252,NP_803430,NP_803429,EAW82299,EAW82301,EAW82302,EAW82303,EAW82304,EAW82306,BAC56859,AAK01642,BAC85582,BAC86719,AAQ88783,NP_076435,AAT00512,Q6ZT75,Q6ZWC2,Q86SR0,Q8N5J9,Q9BZG9 Hs.158665,Hs.604828 MGC40364|SLURP2 protein-coding 1349683 LYPD1 LY6/PLAUR domain containing 1 737633,1580863 16413018,16368877,16344560,16303743,15489334,14702039,12975309,12477932 737633 116372 NM_001077427,NM_144586,AC010974,AC079773,CH471058,CS051317,AI150931,AK075487,AK094501,AK123029,AK130005,AY358628,BC011449,BC017318,BC040046,BE386060,BG057775,BY800190,CB110132,CR601943,DA687169,DA776269 NP_001070895,NP_653187,AAX93206,AAX93107,EAX11673,EAX11674,EAX11675,EAX11676,EAX11677,CAI72153,BAC11647,BAC04368,BAC85518,BAC85273,AAQ88991,AAH17318,AAH40046,Q53RU6,Q53T92,Q8IXM0,Q8N2G4 Hs.706894 FLJ41033|LYPDC1|MGC29643|PHTS protein-coding 1352251 LYPD2 LY6/PLAUR domain containing 2 15489334,12975309,12477932 137797 NM_205545,AC083841,CH471162,AK290331,AY358432,BC119019,BC119812 NP_991108,EAW82307,BAF83020,AAQ88798,AAI19020,AAI19813,Q6UXB3 Hs.441280 LYPDC2|MGC148106|UNQ430 protein-coding 70834 LYPD3 LY6/PLAUR domain containing 3 15012588,17912244,17849475,17706320,16344560,16303743,15489334,15342556,15057824,12975309,12592373,12477932,11245483,11179665,12477722 27076 NM_014400,AC018758,CH471126,AF082889,AJ223603,AK075464,AK290905,AY359006,BC039167,BC041061,BP367221,CR591150,CR596404,CR610737,CR611777,CR620698,CR622986,DA837818,AL832153 NP_055215,AAG09062,EAW57190,AAD13751,CAA11469,BAF83594,AAQ89365,AAH39167,O95274,Q5JPJ9,CAI46120 Hs.631594 C4.4A protein-coding 1602183 LYPD4 LY6/PLAUR domain containing 4 15489334,12975309,12477932 147719 NM_173506,AC010616,AC020956,CH471126,AK292305,AY358726,AY771680,BC034629 NP_775777,EAW57066,EAW57067,BAF84994,AAQ89088,AAX08121,AAH34629,Q6UWN0 Hs.98660 MGC42718|SMR protein-coding 1604488 LYPD5 LY6/PLAUR domain containing 5 16344560,15489334,15340161,14702039,12975309,12477932 284348 NM_182573,NM_001031749,AC011508,AC115522,CH471126,AK055031,AY358719,BC044237,BC057816,CF529795,CR590066,DA286806,DC364960 NP_872379,NP_001026919,EAW57232,BAB70840,AAQ89081,AAH57816,Q6UWN5 Hs.44289 FLJ30469|PRO4356 protein-coding 1605579 LYPD6 LY6/PLAUR domain containing 6 15489334,15340161,14702039,12975309,12477932 130574 NM_194317,AC007394,CH471058,AK055699,AK124733,AL831852,AY358623,BC032836,BC047013 NP_919298,AAY14698,EAX11538,EAX11539,EAX11540,CAH56278,AAQ88986,AAH32836,AAH47013,Q4G121,Q53TR3,Q659B1,Q86Y78 Hs.21929 MGC52057 protein-coding 735384 LYPLA1 lysophospholipase I Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine in both monomeric and micellar forms. The use of alternate polyadenylation sites has been found for this gene. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. 1580863 10064899,15489334,12477932,11080636,11042152,10760470,10395961,9110174,8619474,1531641,16189514 10434 AF081281,AF291053,AK289400,BC008652,BC010397,CR457103,NM_006330,AC100821,CH471068,AF035293,AF052112,AF077198,AF077199 AAD26994,AAC31610,AAG10063,BAF82089,AAH08652,AAH10397,CAG33384,O75608,Q6IAQ1,ABM82453,ABM85643,NP_006321,EAW86742,EAW86743,EAW86744,EAW86745,EAW86746,AAB88180,AAD26993 Hs.435850 GDB:9956996 APT-1|LPL1|LYSOPLA lysophospholipase 1 protein-coding 733893 LYPLA2 lysophospholipase II Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. 1580863 16806233,16710414,15489334,12477932,10395961 11313 NG_007068,AL031295,CH471134,AF090423,AF098668,AK024724,BC017034,BC017193,CR590473,CR593399,CR595388,CR597442,CR601116,CR605174,CR605682,CR606705,CR607318,CR609115,CR614223,CR614434,CR619727,CR621740,CR623546,CR624649,NM_007260 Q5QPN9,Q5QPQ0,ABM87823,ABW03732,NP_009191,CAB40158,CAI23143,CAI23144,CAI23145,CAI23146,CAI23147,CAI23148,EAW95077,EAW95078,EAW95079,EAW95080,EAW95081,EAW95082,AAP97210,AAC72844,AAH17034,AAH17193,O95372,Q5QPN5 Hs.533479 GDB:9957943 APT-2|DJ886K2.4 protein-coding 1601894 LYPLA2P1 lysophospholipase II pseudogene 1 653639 NR_001444,AL050332,AL662799,AL662827,BX248088 APT|LYPLA2L|dJ570F3.6 pseudo 1344350 LYPLA3 lysophospholipase 3 (lysosomal phospholipase A2) Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. 1582126,1580863 10092508,11790796,16303743,15489334,15340161,14754907,14702039,12975309,12477932,10395961,10230407,9373149,8125298 1582126 23659 NM_012320,AC020978,CH471092,AB017494,AK001705,AK074828,AK127898,AK222790,AL110209,AL389957,AY358425,BC011640,BC062605,CR597665,CR598578,CR609474 NP_036452,EAW83217,EAW83218,BAA76877,BAC11233,BAD96510,CAB53675,CAB97531,AAQ88791,AAH11640,AAH62605,Q53GZ1,Q8NCC3 Hs.632199 GDB:11506221 ACS|DKFZp564A0122|LLPL|LPLA2 protein-coding 1322525 LYPLAL1 lysophospholipase-like 1 16710414,15489334,12477932 127018 NM_138794,AL360093,CH471100,CS185550,AK123628,AK129913,AK291542,AY341430,BC016711,CR593519 NP_620149,CAH70459,CAH70460,EAW93319,EAW93320,EAW93321,EAW93322,EAW93323,CAJ42731,BAF84231,AAQ17077,AAH16711,Q5VWZ2 Hs.657617 KIAA1238 protein-coding 1601746 LYRM1 LYR motif containing 1 15489334,12477932,10493829 57149 NM_020424,AC002394,CH471228,BC017039,CR591271,CR592215,CR600639,CR601839,CR607148,CR620481 NP_065157,AAC05810,EAW66843,EAW66844,EAW66845,EAW66846,EAW66847,EAW66848,EAW66849,AAH17039,O43325 Hs.185489 A211C6.1 protein-coding 1603386 LYRM2 LYR motif containing 2 15489334,15342556,14702039,12477932,7829101 57226 NM_020466,AL096678,CH471051,AK024783,AK094994,AL122090,BC009782,BC104668,BI492982,BP280644 NP_065199,EAW48547,EAW48548,EAW48549,AAH09782,AAI04669,Q9NU23 Hs.177275 DJ122O8.2|FLJ21130|MGC104253 protein-coding 1345825 LYRM4 LYR motif containing 4 17331979,16341090,15489334,14574404,12477932,11342225,8889548 57128 NM_020408,AL035653,AL121978,AL162381,CH471087,AF088060,AF170070,AF258559,AF285118,AK291158,BC009552,BC067762,BC105601,BI226933,BM984752,BX446965,CR605553,CR607654,CR612610,CR620170 NP_065141,EAW55176,EAW55177,EAW55178,AAF25797,AAG23762,AAG01155,BAF83847,AAH09552,Q8WY88,Q9HD34 Hs.387755,Hs.708873 C6orf149|CGI-203|ISD11 protein-coding 1606960 LYRM5 LYR motif containing 5 15489334,14702039,12477932 144363 NM_001001660,NG_007524,AC092794,CH471094,AK057730,AK095164,BC071769,BC100276,BG771497,CR593194,CR601350,CR616971 NP_001001660,EAW96510,AAH71769,AAI00277,Q6IPR1 Hs.209151 protein-coding 1602082 LYRM7 Lyrm7 homolog (mouse) 15489334,14702039,12477932 90624 NM_181705,AC004650,AC005179,CH471062,AK000803,AK056991,BC022429,BC037930,BC047079,BI601105 NP_859056,EAW62375,AAH22429,AAH37930,AAH47079,Q5U5X0,Q8TBW3 Hs.115467 C5orf31|FLJ20796|MGC24679 protein-coding 1603473 LYSMD1 LysM, putative peptidoglycan-binding, domain containing 1 16710414,15489334,12477932 388695 NM_212551,AL592424,CH471121,AL122088,AY037156,BC031649,BX647911 NP_997716,CAI16380,EAW53467,CAH10716,AAK67635,AAH31649,CAH10574,Q96S90 Hs.591482 MGC35223|RP11-68I18.5|SB145 protein-coding 1605838 LYSMD2 LysM, putative peptidoglycan-binding, domain containing 2 15592455,15489334,12477932 256586 NM_153374,AC026770,CH471082,AK129759,AY125955,BC022075,BC033515,CR611936,CR612344,CR624697,CR936638 NP_699205,EAW77427,AAM94507,AAH22075,AAH33515,CAI56778,Q8IV50,ABM83350,ABM86564 Hs.631693 DKFZp686I2243|MGC35274 protein-coding 1606178 LYSMD3 LysM, putative peptidoglycan-binding, domain containing 3 11230166,11076863,16381901,15489336,15489334,14702039,12477932 116068 NM_198273,AC027323,CH471084,CS300697,AK023604,AK291478,AL137315,AL832721,BC058027,BX500166,BX537972,CR933624 NP_938014,EAW95984,CAK32361,BAF84167,CAB70692,AAH58027,CAD97936,CAI45934,Q0JS58,Q0JTS2,Q7Z3D4,CAL38090,CAL38656,AAI46688 Hs.136235 DKFZp686F0735|FLJ13542 protein-coding 1606711 LYSMD4 LysM, putative peptidoglycan-binding, domain containing 4 15489334,14702039,12477932 145748 NM_152449,AC022692,CH471101,AK056718,AK057570,AK124852,AK290296,BC041097,BC084545,BG420645,BX640928,CB989579,CR614946 NP_689662,EAX02253,EAX02254,EAX02255,EAX02256,BAB71528,BAF82985,AAH41097,AAH84545,CAE45966,Q5XG99,Q6MZR2 Hs.562568 FLJ33008|MGC99501 protein-coding 1604070 LYST lysosomal trafficking regulator This gene is thought to encode a protein that regulates intracellular protein trafficking to and from the lysosome. Mutations in this gene are associated with Chediak-Higashi syndrome, a rare lysosomal storage disorder. Alternatively spliced transcript variants have been described but their full-length nature has not been determined. 6445041,9606205,8717042,18043242,16710414,15896657,14759258,12753649,12477932,12446740,12125812,11984006,11857544,11102458,10737800,10482950,9215680,9215679,8896560,8751864,8751863 1130 NM_000081,NG_007397,AL121997,AL133286,AL390765,CH471098,BC033098,BI031463,BX649113,CD702969,L77889,U67615,U70064,U72192,U84744 NP_000072,EAW70034,EAW70035,EAW70036,EAW70037,EAW70038,AAB51608,AAB41309,AAB41533,AAB39697,AAB87737,Q99698 Hs.532411 CHS|CHS1 protein-coding 1322012 LYVE1 lymphatic vessel endothelial hyaluronan receptor 1 This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. 10037799,18181096,18090227,18078989,17884820,17087938,16569201,16424896,16344560,16335952,16303743,15489334,12975309,12912978,12554094,12477932,12091407,11719431,11689016 10894 CA449932,NM_006691,AC009532,CH471064,CS051263,AF118108,AF127670,AK075443,AY358925,BC026231,CR595979,CR597409,CR598440,CR598862,CR599107,CR604450,CR605021,CR612000,CR614245,CR614790,CR622723,DA924658 AAH26231,NP_006682,EAW68565,CAI72127,AAD42764,AAD49220,AAQ89284,Q9Y5Y7,ABM82966,ABM86158 Hs.655332,Hs.708807 GDB:9958457 CRSBP-1|HAR|LYVE-1|XLKD1 extracellular link domain containing 1 protein-coding 735254 LYZ lysozyme (renal amyloidosis) This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the anti-microbial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. Missense mutations in LYZ have been identified in heritable renal amyloidosis. 1599840,1599842 10561612,10558865,10534505,9883972,9757091,9745729,9659355,9359845,8765309,8566845,8503881,8464497,7334520,6876162,2829884,17353931,366724,18029788,17524359,17407782,17360367,17054380,16799949,16441658,16329101,16126226,16023673,15745733,15713462,15489334,15155566,14976184,12709420,12675840,12564923,12477932,12183536,11986950,11946554,11946553,11927576,11887182,5284421,5168859,3413092,2971592,2546758,2207098,2061330,1794972,16189514,11849445 1599840,1599842 4069 NM_000239,AC020656,CH471054,X14008,AK130127,AK130149,BC004147,CR607267,CR615077,J03801,M19045,M21119,U25677 NP_000230,EAW97220,EAW97221,EAW97222,CAA32175,AAH04147,AAA59535,AAA59536,AAA36188,AAC63078,P61626,ABM83197,ABM86398 Hs.706744 GDB:120160 LZM lysozyme protein-coding 1350038 LYZL1 lysozyme-like 1 737633 15489334,15342556,15164054,12975309,12477932,11329013 737633 84569 NM_032517,AL158167,CH471072,AI393331,AY358694,BC021730,BF057063,BG209290,BP369317 NP_115906,CAI15232,EAW86025,AAQ89057,AAH21730,Q6UWQ5,Q9H1R8 Hs.558572 KAAG648|LYC2|MGC33408|PRO1278|bA534G20.1 protein-coding 1343889 LYZL2 lysozyme-like 2 1580863 16014814,15489334,15164054,12477932 119180 NM_183058,AL451107,CH471072,AF139543,AI637906,BC066294 NP_898881,CAH70607,EAW86003,AAP97272,AAH66294,Q7Z4W2 Hs.522610 protein-coding 1348547 LYZL4 lysozyme-like 4 737633,1580863 16014814,15489334,12477932 737633 131375 NM_144634,AC092048,CH471055,AF326749,BC016747 NP_653235,EAW64648,AAO32946,AAH16747,Q96KX0 Hs.234895 1810009N24Rik|LYC4|MGC26768 protein-coding 1342780 LYZL6 lysozyme-like 6 737633,1580863 16014814,15489334,12975309,12477932,10213461 737633 57151 NM_020426,AC004675,AF088219,CH471147,AY359018,AY742214,BC054481 NP_065159,AAC63332,EAW80115,AAQ89377,AAU93343,AAH54481,O75951 Hs.97477 1700023H08Rik|LYC1|PRO1485|TKAL754 protein-coding 1319494 LZIC leucine zipper and CTNNBIP1 domain containing 1580863 16710414,15489334,12477932,11712074 84328 NM_032368,AL357140,CH471130,AB060688,BC007240,BC063443,CR592365,CR600195 NP_115744,CAI16887,EAW71633,EAW71634,BAB72100,AAH07240,AAH63443,Q8WZA0 Hs.327252 GDB:11506223 MGC15436 protein-coding 1315352 LZTFL1 leucine zipper transcription factor-like 1 14702039,12477932,11352561 54585 NM_020347,AC098476,AC099782,AJ289880,CH471055,AJ297351,AK024323,AK027165,AK093705,AK129805,BC025988,BC042483,BX640604,CR596073,CR608455 NP_065080,CAB96873,EAW64749,EAW64750,CAB95836,AAH25988,AAH42483,CAE45710,Q9NQ48,ABW03334 Hs.30824 GDB:10796496 FLJ36386 protein-coding 1319250 LZTR1 leucine-zipper-like transcription regulator 1 This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. 1580863 7633402,16356934,16344560,15761153,15489334,12477932,9110174,8619474 8216 NM_006767,AC002470,CH471176,AK127080,AL833698,BC026214,BQ019651,BQ182728,CR600642,CR601558,CT841521,D38496,DA194822,U79243 NP_006758,EAX02923,BAC86816,AAH26214,CAJ86451,BAA07508,Q20WK0,Q6ZSY0,Q8N653,CAK54544,CAK54843,ABW03703,ABW03361 Hs.78788 GDB:1347053 LZTR-1|MGC21205|TCFL2 leucine-zipper-like transcriptional regulator 1 protein-coding 736900 LZTS1 leucine zipper, putative tumor suppressor 1 1600104,1580863 17349584,10097140,15489334,12851677,12477932,12377406,11504921,11464283 1600104 11178 NM_021020,AC025853,AF123653,CH471080,AF123652,AF123654,AF123655,AF123656,AF123657,AF123658,AF123659,BC075006,BC075007,CR605260 NP_066300,AAD23834,EAW63752,EAW63753,EAW63754,EAW63755,EAW63756,AAD23833,AAD23835,AAD23836,AAD23837,AAD23838,AAD23839,AAD23840,AAH75006,AAH75007,Q9Y250,ABZ92469 Hs.521432 GDB:9957044 F37|FEZ1 psd-zip70 protein-coding 1343241 LZTS2 leucine zipper, putative tumor suppressor 2 17950943,16713569,16189514,15489334,14702039,12477932,11709705,11347906 84445 NM_032429,AL133215,CH471066,AB058716,AK097997,AL834338,AY029201,BC005855,BC006212,BC058938,CR610713 NP_115805,CAI10926,CAI10927,CAI10928,CAI10929,EAW49790,EAW49791,EAW49792,BAB47442,BAC05212,CAD39005,AAK31577,AAH05855,AAH06212,AAH58938,Q5JW18,Q5JW19,Q5JW20,Q5JW21,Q8N1I9,Q9BRK4,Q9BRY6 Hs.523221 KIAA1813|LAPSER1|RP11-108L7.8 protein-coding 736941 M-RIP myosin phosphatase-Rho interacting protein 17353931,17081983,16257966,15545284,15489334,15469989,15324660,14702039,14506264,12477932,10048485,8889548,15778465,9199174,14743216 23164 NM_015134,NM_201274,AC055811,AC079111,CH471196,AB020671,AB098507,AB189741,AB362572,AB362573,AJ844625,AK025229,AK025604,AK092287,AL834513,AY296247,BC009982,BC012426,BC014102,BC021058,BC021070,BC030255,BC050323,BC063588,BC075847,BC105987,BU527795,CF126021,D23673 NP_055949,NP_958431,EAW55721,EAW55722,EAW55723,EAW55724,BAA74887,BAC78198,BAD89507,BAF81537,BAF81538,CAH59751,BAC03851,CAD39169,AAQ63176,AAH09982,AAH12426,AAH75847,AAI05988,Q5ZEZ6,Q6WCQ1,Q8N236,Q96EE5,Q9Y6X7 Hs.462341 GDB:9955048 KIAA0864|RHOIP3|p116Rip rho interacting protein 3 protein-coding 1350209 M195 membrane external protein 195kDa 4079 GDB:119370 1354089 M6PR mannose-6-phosphate receptor (cation dependent) The protein encoded by this gene is a receptor for mannose-6-phosphate groups on lysosomal enzymes. The receptor forms a homodimer or homotetramer for intracellular targeting of lysosomal enzymes and export of newly synthesized lysosomal enzymes into the cell secretions. The receptor is an integral membrane protein which localizes to the trans-Golgi reticulum, endosomes, and the plasma membrane. 1580863 10799489,12493773,18088323,18003638,17210618,15620351,15489334,15167696,15078902,14702039,12736721,12697764,12477932,11886874,11387475,11106728,10829017,9604938,9590177,9373149,8674621,8125298,8099077,7640295,2960682,2441386,2172972,1849818 4074 NM_002355,AC006581,CH471116,X56253,X56254,X56255,X56256,X56257,AK057556,AK222792,AK291143,BC017111,BC024206,CR616312,M16985,CR457412 NP_002346,EAW88596,EAW88597,EAW88598,EAW88599,CAB94715,BAD96512,BAF83832,AAH17111,AAH24206,CAG33693,AAA59542,P20645,Q53GY9,Q6I9U3,Q96AH2 Hs.134084 GDB:120162 CD-MPR|FLJ32994|MPR46|SMPR protein-coding 1343845 M6PRBP1 mannose-6-phosphate receptor binding protein 1 Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. 1580863 9590177,17003132,16808905,16769818,16741517,15545278,15489334,15456905,15231748,14702039,12768012,12697764,12631276,12535272,12477932,12077142,12032303,11359012,11313361,10908666,10829017,10393528,9874244,9373149,8125298,6856484,16189514,15782153 10226 NM_005817,AC027319,CH471139,AF051314,AF051315,AF055574,AF057140,AK122671,AK223054,AK225045,AK225400,AK226088,AK291104,BC001590,BC005818,BC007566,BC019278,BF222684,BG339642,BQ063091,BQ276395,BT007235,CR607156 NP_005808,EAW69192,AAD11619,AAD11620,AAD11622,AAC39751,BAD96774,BAF83793,AAH01590,AAH05818,AAH07566,AAH19278,AAP35899,O60664,ABM83550,ABM86790 Hs.140452 MGC11117|MGC2012|PP17|TIP47 protein-coding 1350753 MAA microphthalmia or anophthalmia and associated anomalies 4080 GDB:119372 1343203 MAB21L1 mab-21-like 1 (C. elegans) This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. There is evidence that this gene has 2 transcripts with alternate polyA sites, but the full length nature of the longer transcript has not been defined. 1580863 8733127,12826745,12477932,11526470,10813808,10556287,9950369,9152839 4081 NM_005584,AL390071,CH471075,AB073388,BC028170,CR457420,CR624017,CR624056 NP_005575,CAI17181,EAX08547,BAE45718,AAH28170,CAG33701,Q13394,ABM82648,ABM85825 Hs.584776 GDB:3789429 CAGR1|FLJ10197|Nbla00126 protein-coding 1323458 MAB21L2 mab-21-like 2 (C. elegans) This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. 10556287,14702039,12477932 10586 NM_006439,AC110813,AF155219,CH471056,AF262032,AF370007,AK055665,BC009983,CR620783 NP_006430,AAD40248,EAX04998,EAX04999,EAX05000,AAG09800,AAK54206,AAH09983,Q9Y586 Hs.584852 GDB:9957690 FLJ31103 protein-coding 1352225 MACF1 microtubule-actin crosslinking factor 1 The protein encoded by this gene belongs to the plakin family of cytoskeletal linker proteins. This protein family forms bridges between different cytoskeletal elements through specialized modular domains. The encoded protein is one of the largest size proteins identified in human cytoskeletal proteins. It has functional actin and microtubule binding domains, and it appears to stabilize actin at sites where microtubules and microfilaments meet. It may function in microtubule dynamics to facilitate actin-microtubule interactions at the cell periphery and to couple the microtubule network to cellular junctions. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 10529403,10559237,17043677,17081983,16710414,16097034,16076900,15265687,15231748,14702039,14636561,12477932,12421765,12168954,11845288,11112700,10747097,10601340,10574462,9455484,7635207,1074709 23499 NM_012090,NM_033044,AF325327,AF325328,AF325341,AF325342,AF325343,AL137853,AL355477,AL356055,AL365277,AL442071,CH471059,L40626,AB007934,AB029290,AB033077,AF317696,AI400583,AK023285,AK023406,AK023821,AK127519,BC007330,BC071925,BC107866,BX107650,BX647441,CR597314 NP_036222,NP_149033,AAL38995,AAL38996,AAL38997,AAL39000,AAL38998,AAL38999,EAX07274,EAX07275,EAX07276,EAX07277,EAX07278,EAX07279,EAX07280,EAX07281,EAX07282,AAC31661,BAA32310,BAA83821,BAA86565,AAL09459,BAB14509,BAC87016,AAH07330,AAH71925,AAI07867,Q13696,Q32Q32,Q5T3A4,Q5T3A7,Q5T3B2,Q5T3B3,Q5T3B5,Q5TBD0,Q5TBD2,Q5TBD4,Q5VW19,Q5VW21,Q6IPG6,Q6ZQZ4,Q6ZSD7,Q8WXX9,Q8WXY0,Q8WXY3,Q8WXY4,Q96IQ1,Q96PK2,Q9H8U2,Q9UPN3 Hs.580782 GDB:1323194 ABP620|ACF7|FLJ45612|FLJ46776|KIAA0465|KIAA1251|MACF|OFC4 protein-coding 1603052 MACROD1 MACRO domain containing 1 17914104,17532767,16368544,15691879,15489334,12790785,12578638,12477932 28992 BC003188,BC007297,BC008316,NM_014067,AP000721,AP006333,CH471076,AF086206,AF202922,BC000270 AAH00270,AAH03188,AAH07297,AAH08316,Q9BQ69,NP_054786,EAW74192,EAW74193,AAF15294 Hs.602898 LRP16 protein-coding 1347920 MACROD2 MACRO domain containing 2 17586838,16344560,12477932 140733 NM_001033087,AC006198,AL031677,AL035073,AL049633,AL049867,AL050324,AL079338,AL117333,AL118503,AL118510,AL121582,AL121584,AL132826,AL133462,AL136991,AL136992,AL138808,AL139825,AL158088,AL161800,AL353798,AL354773,AL355133,AL357654,CH471133,AK125899,AK131348,BC018687,BC035876,NM_080676,BC036403,BC101216,BC101217,BC101218,BC101219,BC126936,BC128036,BX281637,DB125529,DB495787,DR001087,EF159161 NP_542407,NP_001028259,CAM14046,CAQ08720,CAQ08721,CAM27056,CAQ06880,CAQ06881,EAX10302,BAD18504,AAH18687,AAI01217,AAI01218,AAI01219,AAI01220,AAI26937,ABM46908,A1Z1Q3,Q5W0V5,Q5W0V6,Q6ZN71,Q9BQK0 Hs.661576 GDB:11505110 C20orf133|RP11-189J1.1|dJ631M13.5 protein-coding 1347759 MACSL1 myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)-like 1 12140758,11950773,10830953,1427823 4083 NG_007487,AP000230 GDB:128136 pseudo 1312218 MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Three transcript variants encoding the same protein have been found for this gene. 1599865 17418410,9546394,11181178,11804586,12006501,18491369,18318601,17998396,17674037,17577784,17333263,16964243,16713569,16565220,16341674,16288203,16189514,15782113,15645079,15489334,15302935,15282543,15235594,14978040,14702039,12876282,12853948,12477932,12366697,12351790,11980658,11423979,11370785,11106735,11101889,10597320,10593926,10366450,10229200,10198256,10049595,9305847,11707408,15388328,15694304 1599865 8379 NM_003550,NM_001013836,NM_001013837,AC005282,AC006433,AC069288,AC104129,AC110781,CH236953,CH471144,AF083811,AF123318,AK090959,BC009964,BC018870,BM818088,BQ684437,BU617803,CR600439,U33822 NP_003541,NP_001013858,NP_001013859,AAS07503,AAP21876,EAL23947,EAW87219,EAW87220,AAD24498,AAD20359,AAH09964,AAC52059,Q9Y6D9 Hs.654838 GDB:9839101 HsMAD1|MAD1|PIG9|TP53I9|TXBP181 protein-coding 1322050 MAD2L1 MAD2 mitotic arrest deficient-like 1 (yeast) MAD2L1 is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. MAD2L1 is related to the MAD2L2 gene located on chromosome 1. A MAD2 pseudogene has been mapped to chromosome 14. 1580863 10527948,17353931,18022367,18022368,11285280,8824189,14593737,11181178,11535616,11742988,11804586,12006501,18383837,18354482,18318601,17998396,17934339,17621272,17498870,17333263,17268814,17210994,16714000,16525508,16497171,16495226,16214181,16189514,16112690,15591789,15563594,15489334,15484292,15457580,15306814,15257285,15070740,15024386,15013707,13678590,12970887,12640463,12574116,12477932,12456649,12351790,11912137,11907259,11572763,11551900,11134360,10706629,10700282,10660610,10366450,10200259,9736712,9637688,9628895,9615237,9546394,9373149,9345911,9092546,8125298,11707408,14607335,14561775,11438673,11799067,15694304,15525512 4085 NM_002358,AB056160,AC097173,AF202273,CH471056,AF394735,AJ000186,AK223433,BC000356,BC005945,BC070283,CR605286,CR622828,CR623744,U31278,U65410 NP_002349,BAB63410,AAY40945,AAK38174,EAX05270,EAX05271,EAX05272,EAX05273,AAN74648,CAA03943,BAD97153,AAH00356,AAH05945,AAH70283,AAC52060,AAC50781,Q13257,Q53F56,Q548X9,Q6IRW7,Q8IZX3 Hs.591697 GDB:4590357 HSMAD2|MAD2 protein-coding 1319368 MAD2L1BP MAD2L1 binding protein The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 16169070,18022368,10942595,17934339,16189514,15489334,15257285,14574404,12477932,12456649,11591653,7788527 9587 NM_001003690,NM_014628,AL136131,AL353602,CH471081,AA883912,AL537692,BC002904,BE297042,BI255998,BU845738,CB991410,CR456893,CR595082,CR598493,CR601298,CR605087,CR618196,CR622657,CR624949,D14811 NP_001003690,NP_055443,CAC19507,EAX04219,AAH02904,CAG33174,BAA03552,Q15013,Q6IBB1 Hs.122346 CMT2|KIAA0110|MGC11282|RP1-261G23.6 protein-coding 1346709 MAD2L1P MAD2 mitotic arrest deficient-like 1 (yeast) pseudogene 326596 NG_002592,AL132777 pseudo 1316729 MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast) The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. 1580863 11485998,10366450,17541814,17333263,17296730,17268814,17044027,16618761,15489334,15189446,14702039,14667819,12951035,12529368,12477932,11717438,10660610,10527948,11459826,16189514,11277934 10459 NM_001127325,AL031731,CH471130,DQ017900,AF072933,AF080398,AF139365,AF157482,AK027327,AK094316,BC015244,BI517654,NM_006341,CR604773,CR612866,CR626073 NP_006332,NP_001120797,CAI20216,CAI20217,CAI20218,CAI20219,CAI20220,CAI20221,EAW71697,EAW71698,EAW71699,AAY26393,AAD41647,AAF20267,AAD30290,AAF34357,AAH15244,Q5TGW8,Q5TGX9,Q9UI95,ABM81964,ABM85143 Hs.19400 GDB:9957064 MAD2B|REV7 protein-coding 1344591 MADCAM1 mucosal vascular addressin cell adhesion molecule 1 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. 1580863 8502297,12588680,16750586,16344560,15483224,15057824,15050155,14702039,14669317,12724634,12586641,12477932,12100519,11807247,11705388,10702270,9873398,9655832,9233649,9212736,9162097,8989586,8609404,2474557 8174 NM_130762,AC005775,CH471242,U80012,U80013,U80014,U80015,U80016,AK092211,AY732484,AY819760,BC137506,BC137507,BC142629,DB323303,DQ076657,U43628,NM_130760,U82483 NP_570116,NP_570118,AAC62844,EAW61194,EAW61195,AAC51354,AAV33123,AAV68345,AAI37507,AAI37508,AAI42630,AAY82472,AAB02194,AAC13661,Q13477,Q4PKD0,Q5PY60,Q5UGI7 Hs.102598 GDB:6630269 MACAM1 protein-coding 732838 MADD MAP-kinase activating death domain Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. 9115275,11577081,14735464,8988362,18223207,17410194,17314102,16682944,16273344,15489334,15208670,15007167,14716293,14695193,12477932,12421765,12410563,10970871,10825539,10756096,9796103,9482930,9205841,15103018 8567 NM_130470,NM_003682,NM_130473,NM_130471,NM_130472,NM_130474,NM_130475,NM_130476,NG_007667,AC018410,AC090582,CH471064,U48254,AB002356,AF440100,AF440101,AF440102,AF440103,AF440434,AK292442,AU077339,BC040484,BE242736,U44953,U77352 NP_569826,NP_003673,NP_569829,NP_569827,NP_569828,NP_569830,NP_569831,NP_569832,EAW67930,EAW67931,EAW67932,EAW67933,EAW67934,EAW67935,EAW67936,EAW67937,EAW67938,EAW67939,EAW67940,AAB05595,BAA20814,AAL40265,AAL40266,AAL40267,AAL40268,AAL35261,BAF85131,AAH40484,AAD12154,AAB57735,Q7KYV8,Q8WXG6 Hs.82548 GDB:9785686 DENN|IG20|KIAA0358|RAB3GEP protein-coding 1320456 MAEA macrophage erythroblast attacher This gene product mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. This protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Two immunologically related isoforms of erythroblast macrophage protein with apparent molecular weights of 33 kD and 36 kD were detected in macrophage membranes; this gene encodes the larger isoform. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. 9763581,17467196,16510120,14702039,12477932 10296 NM_005882,AC078852,CH471131,AB208907,AF084928,AK001088,AK022515,AK022586,AK091951,AK094253,AK125501,AK127875,AK128302,AY189687,NM_001017405,AY236486,BC001225,BC006470,BT006957,CR601639,CR606463,CR615926 NP_001017405,NP_005873,EAW82586,EAW82587,EAW82588,EAW82589,EAW82590,EAW82591,EAW82592,EAW82593,EAW82594,EAW82595,EAW82596,BAD92144,AAC67543,BAA91499,BAB14072,BAB14113,BAC86183,BAC87375,AAO85220,AAP74806,AAH01225,AAH06470,AAP35603,Q59H52,Q6ZUN7,Q7L5Y9 Hs.139896 GDB:9955880 EMLP|EMP|HLC-10|PIG5 protein-coding 1605917 MAEL maelstrom homolog (Drosophila) 16710414,15489334,14702039,12477932 84944 NM_032858,AL158837,CH471067,AK027810,AK131066,AL133073,BC028595,BC034310,CR597287,CR614428,CR624981,DQ076156 NP_116247,CAH69955,CAH69956,EAW90780,EAW90781,EAW90782,BAB55385,CAB61396,AAH28595,AAH34310,AAY82463,Q49AP9,Q5VZP8,Q96JY0 Hs.651245 FLJ14904|RP11-102C16.1 protein-coding 731331 MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) 1580863 9616139,18059226,17982426,17901057,17897790,17875642,17823980,17490615,17044113,16498264,16470690,16424013,15749884,14998494,14692531,14688382,12939343,12835653,12477932,12381733,12193719,12149651,12011435,11943779,11772997,11295643,9566892,9070273,8108109 4094 NM_001031804,NM_005360,AC009159,AF055378,AF055376,AF055377,AF447709,AF540388,BC038438,BC081542 NP_001026974,NP_005351,AAC27039,AAC27037,AAC27038,AAN76723,AAO16209,AAH81542,O75444,Q66I47,Q71A33,Q8IX32 Hs.709603 GDB:128009 MGC71685 protein-coding 1601952 MAF1 MAF1 homolog (S. cerevisiae) This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. 11256614,17505538,17499043,17081983,16189514,15489334,12504022,12477932,11438659,11230166,10737800,8889548 84232 NM_032272,AC104592,CH471162,AL136937,BC014082,BC018714,BC031273,BE093055,BE515145,BF339064,BF984144,BG179308,BG757465,BM721318,CR533463,CR600048,CR621223,DN997000 NP_115648,EAW82158,EAW82159,CAB66871,AAH14082,AAH18714,AAH31273,CAG38494,Q9H063 Hs.19673,Hs.529755 MGC20332|MGC31779|MGC39758 protein-coding 1604438 MAFA v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian) MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM] 12368292,17941991,17636040,16847327,15993959,15665000,15664997,14973194,12011435,11416124,15664999 389692 NM_201589,AB086960,AC105118,AY083269 NP_963883,BAC20389,AAL89527,Q8NHW3,AAI56444 Hs.670866 RIPE3b1|hMafA protein-coding 732545 MAFB v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. 1580863 8001130,16473681,16456583,15598817,15489334,15135046,15121870,14702039,12798298,12542796,12542795,12477932,11780052,10909854,10444328,8632993,12499396,10698492,8620536 9935 AL035665,CH471077,AF086178,AF134157,AK027324,BC028098,BC036689,CR611755,NM_005461 NP_005452,CAB75863,EAW76000,AAD30106,AAH28098,AAH36689,Q9Y5Q3 Hs.651210 GDB:9958488 KRML|MGC43127 v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b (avian) protein-coding 1346502 MAFD1 major affective disorder 1 8533768 4095 GDB:120163 1353487 MAFD2 major affective disorder 2 4096 GDB:119373 1319919 MAFF v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Two transcript variants encoding the same protein have been found for this gene. 1580863 10527846,16549056,16371591,15489334,14702039,12490281,12477932,11772409,11036080,10591208,8932385,8107826 23764 NM_012323,NM_152878,AL021977,CH471095,AB025247,AJ010857,AK002001,AK097953,BC015037,BC067751,CR606348,CR611256,CR618179 NP_036455,NP_690617,CAB45266,EAW60221,BAA86871,CAB52435,BAA92029,AAH15037,AAH67751,Q9ULX9 Hs.517617 GDB:10795314 U-MAF protein-coding 1352039 MAFG v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) 1580863 9286713,17928287,16716189,16169070,15489334,12496124,12477932,12149651,11875518,11154691,11036080,11013233,9763667,9421508,9195958,9166829,9150357,8932385,8889548,16189514 4097 NM_002359,NM_032711,CH471099,AF059195,AK130699,AL520760,BC006143,BC012327,BE258646,BE264273,BF976800,BI763651,BM721518,BQ212603,BU195720,CR611601,U84249,Y11514 NP_002350,NP_116100,EAW89712,EAW89715,AAC14427,AAH06143,AAH12327,CAA72284,AAC51737,O15525,Q9BRP3,ABM81635 Hs.252229 GDB:5880339 MGC13090|MGC20149 protein-coding 1350091 MAFK v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 177000). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM] 1580863 9150357,14702039,12853948,12805554,12690205,12477932,11013233,10747902,10037736,9878398,9763667,8887638,8355703 7975 NM_002360,AC093734,CH236953,CH471144,AF059194,AK056767,AK092414,AL831913,BC012777,BC094871,BC143040,BC143041,BC148194,BC148265,BC152387 NP_002351,AAP21866,EAL23943,EAW87207,EAW87208,AAC14426,BAB71276,CAD38575,AAI43041,AAI43042,AAI48266,AAI52388,O60675,Q6P9C4,Q8NDR0,Q96ML1 Hs.520612 GDB:9848759 FLJ32205|MGC71717|NFE2U|P18 protein-coding 732303 MAG myelin associated glycoprotein The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. 1580863 18236455,17974963,17964117,16039057,15820319,15489334,15146195,15057824,14702039,12528815,12477932,12237860,12160746,12089450,12020971,12011108,11733546,11423128,9668345,9373149,8432525,8125298,7525550,7505568,6177705,2655996,2479762,2476987,2475262,2447011,2446864,1282933 4099 NM_080600,NM_002361,AC002132,AD000684,AK094545,AK222649,AK222680,AK223562,BC034042,BC053347,BC093045,BI755065,CR614873,M29273,X98405 NP_542167,NP_002352,AAB58805,BAD96369,BAD96400,BAD97282,AAH53347,AAH93045,AAA59545,CAA67055,P20916,Q15489,Q53ES7,Q53HA1,Q53HD1,Q567S4,Q59GD9 Hs.643440 GDB:120702 GMA|S-MAG|SIGLEC-4A|SIGLEC4A protein-coding 1348245 MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. 1580863 1840703,18197853,17634428,17611652,17208940,17007017,16516880,16497664,16344560,16189514,16114059,15489334,15353125,15342556,15316101,15059299,14672620,12525503,12477932,12443884,11691819,10854409,10363990,8647853,8575766,8302824,8113684,8050815,8039421,8037761,7927954,7927540,7823968,7627949 4100 AAB33086 NM_004988,AC152005,CH471172,M77481,AF463515,AY148486,BC017555,BP314195,BT009789,CA428506,DB053667,EU161102 NP_004979,EAW72885,AAA03229,AAL69948,AAN62752,AAH17555,AAP88791,ABW06861,AAB33086,P43355,Q8WX99,ABM82075,ABM85255 Hs.72879 GDB:273680 MAGE1|MGC9326 protein-coding 1345818 MAGEA10 melanoma antigen family A, 10 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding the same protein have been found for this gene. 15489334,15355897,12477932,10446460,8575766,7927540 4109 NM_021048,NM_001011543,AC116666,AX026469,AX026473,CH471169,U10685,BC004105,CB959556,CR622868 NP_066386,NP_001011543,CAC09073,CAC09076,EAW99421,EAW99422,AAA68869,AAH04105,P43363,ABM83957,ABM87274 Hs.18048 GDB:331126 MAGE10|MGC10599 protein-coding 1349031 MAGEA11 melanoma antigen family A, 11 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12477932,10521804,9495246,8575766,16189514,18212060,17081983,15684378,15489334,14702039,7927540 4110 NM_001011544,NM_005366,AC016939,AC139014,CH471169,U10686,AI691089,AK127849,AY747607,BC004479,BQ212898,BX337921 NP_001011544,NP_005357,EAW99364,EAW99365,EAW99366,AAA68870,BAC87161,AAW71787,AAH04479,P43364 Hs.670252 GDB:331128 MAGE-11|MAGE11|MAGEA-11|MGC10511 protein-coding 1352065 MAGEA12 melanoma antigen family A, 12 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. 18197853,17634428,15489334,12477932,10854409,8575766,8276455,8037761,7927540,16189514 4111 NM_005367,AF002997,CH471169,L18877,BC003408,BC098146,BT007108,CR541775,CR594285 NP_005358,EAW99432,AAA19023,AAH03408,AAP35772,CAG46574,P43365,Q6FHH8,ABM81927,ABM85104 Hs.169246 GDB:331129 MAGE12 protein-coding 1606582 MAGEA2 melanoma antigen family A, 2 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. 18197853,17634428,16847267,15489334,12525503,12477932,10854409,8575766,8416750,8276455,8113684,7927540,7591235,1840703 4101 NM_005361,NM_175743,NM_175742,AF002997,CH471169,L18920,U82671,AK290443,BC013098,BC063681,BC108720,BC109188,BC112158,BC112160,BG575302,BM781931 NP_005352,NP_786885,NP_786884,EAW99429,EAW99430,EAW99431,AAA17729,BAF83132,AAH13098,AAH63681,AAI08721,AAI09189,AAI12159,AAI12161,P43356,Q2VPA5,Q6P448,Q96E03,AAI46450 Hs.670781 GDB:273684 MAGE2|MAGEA2A|MGC131923 protein-coding 1349621 MAGEA2B melanoma antigen family A, 2B This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. 15489334,12477932,10854409,8575766,8276455,8113684,7927540,1840703 266740 NM_153488,AF002997,U82671,AK290443,BC013098,BC063681,BC108720,BC109188,BC112158,BC112160 NP_705692,BAF83132,AAH13098,AAH63681,AAI08721,AAI09189,AAI12159,AAI12161,P43356,Q6P448,ABM82609,ABM85794 Hs.534597,Hs.670781 MAGE2|MAGEA2|MGC16973 protein-coding 1353296 MAGEA3 melanoma antigen family A, 3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. 18316621,18237105,18197853,18181974,17699848,17634428,17495964,17007017,16806467,16516880,16446550,16114059,15885805,15489334,14672620,12710945,12477932,12393675,11691819,10854409,9373149,9044853,8575766,8125298,8113684,8037761,7927540,7757970,7591235,1840703,9700202 4102 NM_005362,AF002997,U03735,AK223519,AK292384,BC000340,BC005963,BC011744,BC016803,BC017389,CR541767,CR541768,CR541774,CR542020 NP_005353,AAA17446,BAD97239,BAF85073,AAH00340,AAH05963,AAH11744,AAH16803,AAH17389,CAG46566,CAG46567,CAG46573,CAG46817,P43357,Q53EX0,Q6FGT7,Q6FHI5,Q6FHI6,ABM82776,ABM85966 Hs.417816 GDB:273687 HIP8|HYPD|MAGE3|MAGEA6|MGC14613 protein-coding 1353714 MAGEA4 melanoma antigen family A, 4 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. At least four variants encoding the same protein have been found for this gene. 12525503,14739298,18197853,17214847,16651421,16596224,16189514,16114059,16061876,15489334,12759544,12477932,12209997,12209610,11985796,11502003,9119398,8575766,8037761,7927540,7642112,7591235 4103 U10687,U10688,AY954624,BC017723,BC096712,BM548926,BM562570,BX479311,CB120212,CR622709,CR623041,D32075,D32077,U10340,NM_001011548,NM_002362,NM_001011549,NM_001011550,AF274855,CH471169 EAW99413,AAA68871,AAA68872,AAY27261,AAH17723,AAH96712,BAA06841,BAA06843,AAA19007,P43358,Q1RN33,Q4V9T5,ABM82611,NP_001011548,NP_002353,NP_001011549,NP_001011550,EAW99410,EAW99411,EAW99412 Hs.37107 GDB:331119 MAGE-41|MAGE-X2|MAGE4|MAGE4A|MAGE4B|MGC21336 protein-coding 1343521 MAGEA5 melanoma antigen family A, 5 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. 18197853,15489334,12477932,11211869,10521804,8575766,7927540 4104 NM_021049,AF274856,CH471169,U10689,U10690,AY310324,BC109187 NP_066387,EAW99420,AAA68873,AAA68874,AAI09188,P43359 Hs.668021 GDB:331120 MAGE5|MAGEA4|MGC129526 protein-coding 1603231 MAGEA6 melanoma antigen family A, 6 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Two transcript variants encoding the same protein have been identified for this gene. 17353931,18197853,15489334,12631591,12477932,12208877,8575766,8037761,7927540,7642112 4105 NM_175868,NM_005363,AF002997,U10691,AK289437,BC041599,BC067731,BM843807,BX640600,CR595748,CR611124,D32076,EU161101,U10339 NP_787064,NP_005354,AAA68875,BAF82126,AAH41599,AAH67731,CAE45706,BAA06842,ABW06860,AAA19006,P43360 Hs.441113 GDB:331121 MAGE-3b|MAGE3B|MAGE6|MGC52297 protein-coding 1348686 MAGEA7 melanoma antigen family A, 7, pseudogene 8575766,7927540 4106 NG_001156,AC016939,U10692 GDB:331122 MAGE7 pseudo 1348802 MAGEA8 melanoma antigen family A, 8 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. 12477932,11211869,10521804,8575766,7927540 4107 NM_005364,AC016941,CH471169,U10693,BC002455,BC012744,BC098120,BT007340,CR619399 NP_005355,EAW99373,AAA68876,AAH02455,AAH12744,AAP36004,P43361,Q9BUN9 Hs.522803 GDB:331123 MAGE8|MGC2182 protein-coding 1344901 MAGEA9 melanoma antigen family A, 9 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. 15900605,15489334,12477932,11211869,9147653,8575766,7927540,10521804 4108 NM_005365,AC016939,CH471169,U10694,U66083,AK292272,AY310325,BC002351,BC098100 ABM85521,NP_005356,EAW99372,AAA68877,AAB67888,BAF84961,AAP82171,AAH02351,P43362,Q7Z5K4,AAI56348,AAI57102,ABM82347 Hs.460974,Hs.512582 GDB:331125 MAGE9|MGC8421 protein-coding 1642211 MAGEA9B melanoma antigen family A, 9B 653229 XM_926481,XM_931346,XM_931340,XM_931333 XP_931574,XP_936439,XP_936433,XP_936426 protein-coding 1351406 MAGEB1 melanoma antigen family B, 1 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region, and expressed in testis and in a significant fraction of tumors of various histological types. This gene and other MAGEB members are clustered on chromosome Xp22-p21. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene, however, the full length nature of some variants has not been defined. 15772651,15489334,12477932,12018852,9441743,8535061,7761436 4112 AC005185,CH471074,S80936,U93163,BC013772,BU166425,CR541762,X82539,NM_002363,NM_177415,NM_177404 NP_796379,AAD10634,EAW99049,AAC97145,AAC23616,AAH13772,CAG46562,CAA57889,P43366,Q96TG1,ABM81611,ABM84793,NP_002354,NP_803134 Hs.73021 GDB:635712 DAM10|MAGE-Xp|MAGEL1|MGC9322 protein-coding 1606155 MAGEB10 melanoma antigen family B, 10 15489334,14702039,12477932,11454705 139422 NM_182506,AC107613,AC112492,AF333708,CH471074,AK057527,BC101307,BC101308,BC101309,BC101310 NP_872312,AAK00360,EAW99040,BAB71522,AAI01308,AAI01309,AAI01310,AAI01311,Q96LZ2 Hs.447363 FLJ32965|MGC120394 protein-coding 1353190 MAGEB16 melanoma antigen family B, 16 15772651,11454705 139604 NM_001099921,AL161722 NP_001093391,CAI95297,CAM20853,A2A368 Hs.700562 protein-coding 1605545 MAGEB18 melanoma antigen family B, 18 16189514,16713569,15489334,14702039,12477932 286514 NM_173699,AC129850,CH471074,AK057361,BC029525 NP_775970,EAW99033,BAB71450,AAH29525,Q96M61 Hs.350683 MGC33889 protein-coding 1350701 MAGEB2 melanoma antigen family B, 2 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. 17353931,17012225,15772651,15489334,12477932,12018852,11211869,9538511,9441743,9373149,8535061,8125298 4113 AAB50665 NM_002364,AC005185,CH471074,U93163,AF015766,AK223081,BC026071,CR590008,CR593708,CR611588,CR618278,CR618499,CR621494 NP_002355,AAD10635,EAW99047,AAC23617,AAD01565,BAD96801,AAH26071,AAB50665,O15479,Q53G50,ABW03680 Hs.113824 GDB:6763980 DAM6|MAGE-XP-2|MGC26438 protein-coding 1353042 MAGEB3 melanoma antigen family B, 3 This gene is a MAGE-B subfamily member of the MAGE gene family. MAGE family member proteins direct the expression of tumor antigens recognized on a human melanoma by autologous cytolytic T lymphocytes. There are two known clusters of MAGE genes on chromosome X. The members of the MAGE-A subfamily are located in the Xq28 region, while the members of the MAGE-B subfamily are clustered in the Xp21 region. 15772651,15489334,14702039,12477932,10861452,9441743 4114 NM_002365,AC005185,U93163,AK057441,BC069784,BC074756,BC126320,BC126322 NP_002356,AAD10636,AAC23618,AAH69784,AAH74756,AAI26321,AAI26323,O15480 Hs.113290 GDB:6763981 protein-coding 1346783 MAGEB4 melanoma antigen family B, 4 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEB genes are clustered on chromosome Xp22-p21. This gene sequence ends in the first intron of MAGEB1, another family member. This gene is expressed in testis. 16189514,15772651,15489334,12477932,9441743 4115 NM_002367,AC005185,CH471074,U93163,BC032852,CR541779 NP_002358,AAD10637,EAW99050,AAC23619,AAH32852,CAG46578,O15481,ABM82162,ABM85347 Hs.113291 GDB:6763982 MGC33144 protein-coding 1349538 MAGEB5 melanoma antigen family B, 5 10861452 347541 XM_293407,XM_001715155,XM_942614,AC005297,AF333705,CR747535 XP_293407,XP_001715207,XP_947707,AAK00357,Q9BZ81 Hs.224079 MAGE-B5 protein-coding 1348631 MAGEB6 melanoma antigen family B, 6 This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is expressed in testis, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21. 15489334,14702039,12477932,10861452 158809 NM_173523,AC005297,AF320514,CH471074,AK097561,BC067286,BC074920,CR604094 NP_775794,AAG48624,EAW99034,BAC05102,AAH67286,AAH74920,Q8N7X4 Hs.376011 FLJ40242|MAGE-B6|MAGEB6A protein-coding 1351509 MAGEB6B melanoma antigen family B, 6B pseudogene 392433 XM_373340,XM_942612,XM_001715138,AC129850 XP_373340,XP_947705,XP_001715190 protein-coding 1347095 MAGEC1 melanoma antigen family C, 1 This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins. 17137291,18237105,17607369,15772651,12477932,12115486,11872084,9618514,9485030 9947 NM_005462,AF064589,AL022152,AL023279,CH471170,AF056334,BC025969,BC127771 NP_005453,AAC18837,CAD27434,CAI42087,EAW78010,AAC24227,AAI27772,O60732,Q5JZC0 Hs.132194 GDB:9958504 CT7|MAGE-C1|MGC39366 protein-coding 1351080 MAGEC2 melanoma antigen family C, 2 This gene is related to members of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the MAGEC genes are clustered on chromosome Xq26-q27. 1580863 12920247,17495964,17096150,15772651,15489334,15061963,14999777,12477932,12097419,11602350,11406556,10861452,10699956 51438 NM_016249,AF116195,AF196483,AF239802,AL031073,CH471170,AF116194,AF151378,AF196482,BC005891,BC013318,CR457168 NP_057333,AAF34817,AAF07211,AAK15073,CAI42324,EAW78014,EAW78015,EAW78016,AAF34816,AAF36533,AAF07210,AAH05891,AAH13318,CAG33449,Q6IAI7,Q9UBF1,ABM83868,ABM87190 Hs.123536 CT10|HCA587|MAGEE1|MGC13377 protein-coding 1603580 MAGEC3 melanoma antigen family C, 3 This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. 15772651,12477932,10861452 139081 NM_138702,NM_177456,AF333706,AF333707,AL022152,AL023279,AL049177,CH471170,AF490508,BC103893,BC103894 NP_619647,NP_803251,AAK00358,AAK00359,CAI42088,EAW78008,EAW78009,AAM08355,AAI03894,AAI03895,Q3SYA6,Q3SYA7,Q8TD91,Q9BZ79 Hs.356870 HCA2|MAGE-C3|MAGEC4|MGC119270|MGC119271 protein-coding 736331 MAGED1 melanoma antigen family D, 1 This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. 15930293,17488777,17453828,17353931,17149546,17140727,16713569,16125672,15772651,15489334,15162511,15094062,12754255,12598531,12477932,12204258,12023963,11959851,11546791,11313144,11280991,11087672,11084035,10985348,10409427,12716928 9500 NM_001005332,NM_001005333,NM_006986,AL929101,AL929410,CH471230,AF124440,AF132205,AF217963,AF258554,AF300328,AK074092,AL133628,BC014070,BC032473,BF529661,BG819042,BX422007,CD387872 NP_001005332,NP_001005333,NP_008917,CAH71560,CAH71561,EAW62896,EAW62897,AAD31421,AAG35551,AAG09704,AAG23757,AAQ14483,BAB84918,CAB63752,AAH14070,AAH32473,Q8TEN0,Q9Y5V3 Hs.5258 GDB:9957199 DLXIN-1|NRAGE melanoma antigen, family d, 1 protein-coding 734427 MAGED2 melanoma antigen family D, 2 This gene is a member of the MAGED gene family. While the MAGEA and MAGEB genes are silent in normal tissues with the exception of testis and placenta, the MAGED genes are expressed ubiquitously. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). Multiple alternatively spliced transcript variants have been found for this gene, however, the full length nature of some variants has not been defined. 18095154,17912449,17081983,15772651,15489334,15465002,15302935,15162511,14702039,12477932,11856887,10752678,10463614 10916 NM_177433,NM_014599,NM_201222,CH471154,Z98046,AF126181,AF128527,AF128528,AF148815,AF320907,AJ293618,AK091003,AK092463,AK098645,BC000304,BC091503,BM043994,BM803170,BQ423605,BX647995,CR595215,CR597524,CR605686,CR606543,CR624805,U92544 NP_803182,NP_055414,NP_957516,EAW93189,EAW93190,EAW93191,EAW93192,EAW93193,EAW93194,EAW93195,EAW93196,EAW93197,EAW93198,CAB10841,CAI42345,CAI42346,AAD28598,AAD33392,AAD33393,AAF73137,AAG38603,CAC19410,BAC03896,AAH00304,AAH91503,AAD00728,Q5H909,Q9UNF1,ABM82338,ABM85513,ABM87819 Hs.522665 GDB:9958591 11B6|BCG1|HCA10|JCL-1|MAGE-D2|MAGED|MGC8386 melanoma antigen, family d, 2 protein-coding 1604588 MAGED4 melanoma antigen family D, 4 11406556,11181995 728239 NM_001098800,AL928717,CH471230,AB040527,AB040528,AB040529,AB058762,AF320908,AF329733,AK094541,AK098830,AK289458,AL136582,BC001207,BC063838,BC081566,CR604784,CR615914 NP_001092270,CAI40426,EAW62886,EAW62887,EAW62889,EAW62890,EAW62891,EAW62892,EAW62893,BAB33378,BAB33379,BAB33380,BAB47488,AAG38604,AAL50032,BAF82147,CAB66517,AAH01207,AAH63838,AAH81566 Hs.522650,Hs.571729 FLJ39060|KIAA1859|MAGE-E1|MAGE1|MAGEE1|MGC3210 protein-coding 1626386 MAGED4B melanoma antigen family D, 4B This gene is a member of the MAGED gene family. It is expressed only in brain and ovary among normal tissues, and two transcript variants of this gene are specifically expressed in glioma cells among cancer cells. This gene and the other MAGED genes are clustered on chromosome Xp11. Multiple alternatively spliced transcript variants have been found for this gene, however, the full-length nature of some variants has not been defined. 16225959,15489334,14702039,12477932,12168954,11602350,11406556,11347906,11230166 81557 NM_177537,NM_177535,AB056059,BX537154,CH471230,AB040527,AB040528,AB040529,AB058762,AF320908,AF329733,AK094541,AK098830,AK289458,AL136582,BC001207,BC063838,BC081566,CR604784,CR615914,NM_030801 NP_110428,NP_803881,NP_803879,BAB61778,BAB61779,BAB61780,CAI41307,EAW62885,EAW62888,EAW62894,BAB33378,BAB33379,BAB33380,BAB47488,AAG38604,AAL50032,BAF82147,CAB66517,AAH01207,AAH63838,AAH81566,Q5HYN6,Q96JG8,Q9BVH1,Q9H217 Hs.522650,Hs.571729 MGC3210|MGC88639 protein-coding 1349261 MAGEE1 melanoma antigen family E, 1 1580863 14623885,16713569,15489334,12477932,10997877 57692 NM_020932,AL096827,CH471104,AB046807,AF320909,AF490507,AK291270,BC050588 BAF83959,NP_065983,CAI42970,EAW98620,BAB13413,AAG38605,AAM08354,AAH50588,Q5JXC7,Q9HCI5 Hs.8453 GDB:10796970 DAMAGE|HCA1|KIAA1587 protein-coding 1346034 MAGEE2 melanoma antigen family E, 2 14702039,12477932,11454705 139599 Q8TD90 NM_138703,BC093964,BC111949,CR624393,AL391495,CH471104,AF490509,AK094624 NP_619648,AAH93964,AAI11950,Q8TD90,CAI40175,EAW98625,AAM08356,BAC04387 Hs.356869 HCA3|MGC138154 protein-coding 1348798 MAGEF1 melanoma antigen family F, 1 This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. 15489334,12477932,11454705,11313144 64110 AC107294,NM_022149,CR601957,CR604017,CR605167,CR605442,CR611656,CR621352,CR623566,CH471052,AF295378,AF320910,BC010056,BQ058163,BQ070043,CR590592,CR592482,CR596075,CR597086 NP_071432,Q9HAY2,EAW78235,AAG30208,AAG38606,AAH10056 Hs.306123 MGC19617 protein-coding 1349577 MAGEH1 melanoma antigen family H, 1 This gene is thought to be involved in apoptosis. Multiple polyadenylation sites have been found for this gene. 729117,1580863 10948432,16574066,16189514,15772651,15489334,15383276,12477932,12414813,11454705,9485030 729117 28986 NM_014061,AL590410,CH471154,CS185548,AF143235,AF320912,BC011954,CR603973,CR605136 NP_054780,CAI41100,EAW93221,EAW93222,CAJ42729,AAD31314,AAG38608,AAH11954,Q9H213,ABM85572 Hs.279819 APR-1|APR1|MAGEH protein-coding 1320098 MAGEL2 MAGE-like 2 Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. 12477932,10915770,10556298 54551 NM_019066,AC124309,AF200625,CH471151,AJ243531,BC035839,BC063834,BC112257,BC112259,CR592043 NP_061939,AAG28577,EAW57609,CAB62393,AAH35839,AAH63834,AAI12258,AAI12260,Q05BN9,Q2M1Q7,Q6P3U4,Q9UJ55 Hs.141496 GDB:10796678 NDNL1|nM15 protein-coding 1322871 MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1 The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 9647739,17191119,16339077,16043488,16019084,15908431,15317815,14702039,14627983,12477932,12042308,11969287,11274227,9647693,9395497,9225980,9169421,17353931,15778465,11350080,10772923,15509766 9223 NM_015520,NM_001033057,BC062367,U80754,U96115,AC025589,AC099058,AC104438,AC106827,AC112516,AC121493,AC133438,AC145425,CH471055,AB010894,AF088016,AF401654,AF401655,AF401656,AK023358,AK124433,AK127518,AK130632,AK289803,AL050184,NM_004742 NP_001028229,NP_056335,AAC04844,AAC51326,Q6ZSD8,Q96QZ7,NP_004733,EAW65439,EAW65440,EAW65441,EAW65442,EAW65443,EAW65444,EAW65445,BAA32002,AAK94064,AAK94065,AAK94066,BAC87015,BAF82492 Hs.651939 GDB:9864783 AIP3|BAIAP1|BAP1|MAGI-1|TNRC19|WWP3 bai1-associated protein 1 protein-coding 735850 MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. 10760291,9647693,17989107,17880912,15652357,15122254,12853948,12690205,12589829,12477932,12421765,11826105,11707428,11526121,10681527,10080919,9847074,9734811 9863 AC004808,AC004945,AC004990,AC005246,AC006043,AC006324,AC006355,AC007237,AC007361,AC008071,AC073092,AC073200,AC074024,CH236949,CH471091,AA448362,AB014605,AF038563,BC150277,NM_012301,AC004547 AAC23438,AAC61488,AAC79151,AAC25530,AAD15413,AAF66080,AAP21886,AAP22360,EAL24194,EAW77021,EAW77022,EAW77023,EAW77024,EAW77025,BAA31680,AAC05370,AAI50278,Q86UL8,NP_036433 Hs.654788 ACVRIP1|AIP1|ARIP1|MAGI-2|SSCAM activin receptor interacting protein 1 protein-coding 1605836 MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 10748157,16316992,16904289,15652357,15195140,14702039,12615970,12477932,12421765,12140759,11969287,10997877 260425 NM_152900,AL133517,AL365225,AL389921,AL390759,AL391058,CH471122,AB046854,AF213259,AK026417,BC130409 NP_690864,CAI22553,CAI22554,CAI22555,EAW56559,EAW56560,EAW56561,EAW56562,EAW56563,BAB13460,AAG43837,BAB15479,AAI30410,Q5VWK9,Q5VWL0,Q5VWL1,Q9H2V6,Q9H5Y8,Q9H8K0,Q9HBC4,Q9HCD8 Hs.486189 MAGI-3|MGC163281|RP4-730K3.1|dJ730K3.2 protein-coding 1605344 MAGIX MAGI family member, X-linked 16344560,14702039,12477932 79917 NM_001099681,NM_001099682,NM_001099680,AF196779,CH471224,AI369342,AK025340,AK094251,AK096058,BC027995,BC067800,BC114943,DA072017,NM_024859,DQ884401 NP_079135,NP_001093151,NP_001093152,NP_001093150,EAW50691,EAW50692,EAW50693,BAB15115,AAI14944,ABI63368,Q9H6Y5 Hs.193170 FLJ21687|JM10|MGC138889|PDZX protein-coding 1313047 MAGOH mago-nashi homolog, proliferation-associated (Drosophila) Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. 10662555,14730019,14973490,17353931,12226669,16931718,16710414,16209946,16170325,15489334,15324660,12781131,12730685,12477932,11991638,11707413,11696323,11447110,11042152,9479507,9272960 4116 NM_002370,AL606760,CH471059,AF035940,AF067173,AF086246,BC018211 NP_002361,CAI18913,CAI18914,EAX06747,EAX06748,AAC39606,AAD32457,AAH18211,P61326,ABM82215,ABM85399 Hs.421576 GDB:5878927 MAGOHA protein-coding 2292057 MAGOH2 mago-nashi homolog 2, proliferation-associated (Drosophila) 548332 AW371909,AY672100 Hs.674373 protein-coding 1602707 MAGOHB mago-nashi homolog B (Drosophila) 16501559,16189514,15489334,15324660,14702039,12477932 55110 AK022720,AK096106,BC010905,CR604359,NM_018048,AC021049,CH471094,AF165518,AK001154 BAA91522,BAB14202,AAH10905,Q96A72,NP_060518,EAW96196,EAW96197,EAW96198,EAW96199,AAF86648 Hs.104650 FLJ10292|MGN2|mago|magoh protein-coding 1346623 MAGOHP mago-nashi homolog, proliferation-associated (Drosophila) pseudogene 90352 NG_002581,AL132986 MAGOHP1 pseudo 731507 MAGT1 magnesium transporter 1 8125298,12887896,15835887,16303743,15804357,15489334,15164054,14702039,12975309,12477932,11483580,11230166,9373149 84061 CR599925,DQ000004,AL138743,AL356235,CH471104,AF130104,AK027632,AK075394,AK223131,AL136636,AY358691,BC016342,BC018447,BC041014,BC050657,BC060842,BC063037,NM_032121 AAH63037,AAY18811,Q5JTA8,Q6P577,Q96SP2,Q9H0U3,Q9H375,NP_115497,CAH70524,CAI39526,CAI39527,EAW98608,EAW98609,EAW98610,AAG35529,BAB55249,BAC11592,BAD96851,CAB66571,AAQ89054,AAH41014,AAH60842 Hs.323562,Hs.694999 DKFZp564K142|FLJ14726|IAP|MGC64926|OST3B|PRO0756|RP11-217H1.1|bA217H1.1 protein-coding 733464 MAK male germ cell-associated kinase The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. There is, however, a study of the mouse homolog that has identified high levels of expression in developing sensory epithelia so its function may be more generalized. 1580863 2183027,16954377,16951154,14702039,14574404,12477932,12084720,8359591,8321219,8188277,1473268 4117 NM_005906,AL024498,CH471087,M35863,AF505623,AK097831,BC033002,BC039825 NP_005897,CAB75823,EAW55282,EAW55283,EAW55284,EAW55285,AAA36195,AAN16405,AAH39825,P20794,Q547D0,Q8IXN4 Hs.446125 GDB:287625 dJ417M14.2 protein-coding 1347911 MAK10 MAK10 homolog, amino-acid N-acetyltransferase subunit, (S. cerevisiae) 16344560,14702039,12477932,10855038,9373149,8889548,8125298 60560 NM_024635,AL161447,AL161453,AL353743,CH471089,AK025266,AK026296,AK056059,AK225237,AK292239,BC117427,BC117429,CA945233,DB023442 NP_078911,CAH73154,CAH73155,CAI16311,CAI16313,EAW62702,EAW62703,EAW62704,BAB15097,BAB15435,BAF84928,AAI17428,AAI17430,Q5VZE5,Q5VZE6 Hs.436098 FLJ21613|FLJ22643|RP11-379P1.1|bA379P1.1 protein-coding 735676 MAL mal, T-cell differentiation protein The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. 1580863,1358761 10366425,3494249,10739088,12153479,10428054,8132541,9003426,18346269,18180278,17408629,17151798,16785208,15489334,15466889,15188492,12477932,12429796,10512878,9528996,9168919,8088843,3257199 1358761 4118 M15800,X76678,X76679,X76680,X76681,CR541879,NM_022438,NM_022439,NM_022440,AC103563,CH471219,X76220,X76221,X76222,X76223,BC000458,BC003006,NM_002371 CAG46677,AAA36196,CAA54100,CAA54101,CAA54102,CAA54103,P21145,Q6FH77,NP_002362,NP_071883,NP_071884,NP_071885,AAY24121,EAX10705,EAX10706,EAX10707,EAX10708,EAX10709,EAX10710,CAA53809,AAH00458,AAH03006 Hs.80395 GDB:119374 protein-coding 1348409 MAL2 mal, T-cell differentiation protein 2 This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. 1580863 14729876,12963375,17145811,16620967,16445687,15489334,15466889,15168355,14702039,14576188,12477932,12370246,11549320,16189514 114569 NM_052886,AC087856,CH471060,AK172820,AL117612,AY007723,BC012367,CV574204 NP_443118,EAW91981,EAW91982,BAD18789,AAG15576,AAH12367,Q969L2,ABM92201,ABM84669 Hs.201083 GDB:11506225 protein-coding 1346754 MALAT1 metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) 16441420,12837690,12477932,10843802,9253601,12970751 378938 NR_002819,AF203815,AP000769,BX640764,AF001542,AJ535465,AK130345,AL050210,BC018448,BC025986,BC063689,BX538238,CR606626,BK001411,BK001418 Hs.642877 MALAT-1|PRO2853 miscrna 1342796 MALL mal, T-cell differentiation protein-like This gene encodes an element of the machinery for raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. 11294831,16189514,15489334,14702039,12477932,9361039,9326933,9168137,7622049,1294831 7851 NM_005434,AC013268,CH878608,CS300695,AI911238,AK056616,AK125647,BC003179,BM743962,U17077 NP_005425,EAW50639,CAK32359,AAH03179,AAA76738,Q13021,ABM83796,ABM87117 Hs.185055 GDB:9080604 BENE|MGC4419 protein-coding 1319401 MALT1 mucosa associated lymphoid tissue lymphoma translocation gene 1 This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1599913,1599912,1580863 11090634,15125833,12761501,14695475,11096264,10523859,16123224,12819136,18231929,17948050,17894851,17199743,17145608,17101977,16891304,16804917,16395405,16395399,16341151,15982633,15598810,15489334,15363040,15191563,14760068,14702039,14562112,12931213,12651604,12477932,12406890,11960389,11707622,11262391,11162514,10702396,10626814,10610122,16630178,10406266,10339464,9110174,8619474,17353931 1599913,1599912 10892 NM_006785,NM_173844,AC104365,AC104971,CH471096,AB026118,AF070528,AF130356,AF316597,AK024859,AK092004,AK291386,AL137399,BC030143 NP_006776,NP_776216,EAW63078,EAW63079,BAA83099,AAD38507,AAG38589,BAF84075,CAB70725,AAH30143,Q9UDY8,ABM83245,ABM86447 Hs.601217 GDB:9958453 DKFZp434L132|MLT|MLT1 protein-coding 1312980 MAMDC2 MAM domain containing 2 737633 16381901,15489336,15489334,15164053,12477932,11256614,11076863 737633 256691 NM_153267,AL158153,AL392044,CH471089,CS083249,BC015417,BC016383,BC040299,BC045569,BC063634,BX538309 NP_694999,EAW62493,EAW62494,EAW62495,EAW62496,EAW62497,CAI96011,AAH15417,AAH16383,AAH63634,CAD98089,Q0JV15,Q5U5R6,Q7Z304,CAL37645 Hs.547172 MGC21981 protein-coding 1604980 MAMDC4 MAM domain containing 4 12975309,7829488 158056 NM_206920,AL355987,CH471090,AL834531,AY358419,BF339007,BQ270782,AL137659 NP_996803,EAW88293,EAW88294,EAW88295,CAD39187,AAQ88785,Q6UXC1,AAI56097 Hs.376780 AEGP|DKFZp434M1411 protein-coding 1318517 MAML1 mastermind-like 1 (Drosophila) This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. 1580863 11101851,18155729,17875709,17317671,16530044,15546612,12644465,12477932,12391150,12386158,12050117,11585921,11390662,8724853,8724849 9794 NM_014757,AC113426,CH471165,AB209135,AF221759,BC047937,D83785 NP_055572,EAW53801,BAD92372,AAF34658,BAA12114,Q59GH4,Q92585 Hs.631951 GDB:11500581 KIAA0200|Mam-1|Mam1 protein-coding 1313593 MAML2 mastermind-like 2 (Drosophila) 12370315,18206539,18050304,17551948,17437281,17334997,16818685,15961999,15729701,14720503,12539049,12477932,12386158,11347906 84441 AB058722,AY040322,AY186997,NM_032427,AP000779,AP000848,AP000870,CH471065,BC152449,CR627398 BAB47448,AAK93831,AAP12462,NP_115803,EAW66975,AAI52450,CAH10491,Q108H6,Q1HA41,Q8IZL2 Hs.428214 GDB:11510928 DKFZp686N0150|KIAA1819|MAM-3|MAM2|MAM3|MGC176701|MLL-MAML2 protein-coding 1317803 MAML3 mastermind-like 3 (Drosophila) 1580863 12370315,9225980,16344560,14702039,12539049,12386158,11347906 55534 NM_018717,AC097464,AC104798,AC108053,AC131182,CH471056,AA236382,AK123604,AL359614,AW136739,BC137130,BC137131,BX506733,DA408716,DN999776,R15711 NP_061187,EAX05107,CAB94884,AAI37131,AAI37132,O15415,Q96JK9 Hs.586165 GDB:11510930 CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3 protein-coding 1344424 MAMLD1 mastermind-like domain containing 1 18162467,17086185,16344560,14702039,9169146,8889548,8640223 10046 NM_005491,AK094563,AK125184,BU687638,BX537560,DA106253,DA527328,DR001800,U46023,AC109994,CH471169 NP_005482,BAC86075,AAC50551,Q13495,Q6ZUZ1,EAW99376 Hs.20136 GDB:11498089 CG1|CXorf6|F18 protein-coding 1322054 MAN1A1 mannosidase, alpha, class 1A, member 1 This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the removal of 3 distinct mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. 1580863 8223597,15308636,18217416,17727818,14574404,12477932,10521544,10409699,9592125,9219526,7588811,12560567,11530211,9109416,8673525,2829950,2649653,2542563,2541446,2187500,8093218,3264072,3099781,1736542,8892864,8218172,2406237,2355006,2283726 4121 AL022722,AL078600,AL138886,CH471051,AK025599,BC065827,NM_005907 NP_005898,CAI20315,CAB75695,EAW48185,EAW48186,EAW48187,AAH65827,P33908,Q6P052 Hs.102788 GDB:252031 HUMM3|HUMM9|MAN9 protein-coding 1320278 MAN1A2 mannosidase, alpha, class 1A, member 2 Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM] 1580863 9592125,16710414,16344560,15489334,15231748,14702039,12477932,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726 10905 NM_006699,AF053621,AF053626,AL157902,AL358072,CH471122,AF027156,AK001970,AK090840,AU133800,BC015874,BC052954,BC063300 NP_006690,AAC26200,AAC26201,CAI22315,CAI22316,CAI22317,CAI22318,EAW56675,EAW56676,AAC26169,AAH63300,O60476,Q5T9E4,Q5VXL4 Hs.435938 GDB:9958579 MAN1B protein-coding 1347467 MAN1B1 mannosidase, alpha, class 1B, member 1 1580863 10521544,10409699,17727818,16303743,15785934,15713668,15489334,15164053,14702039,12975309,12815101,12736254,12477932,10995765,9592125,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,12560567,8892864,8218172,2406237,2355006,2283726 11253 NM_016219,AL807752,AL929554,CH471090,AF145732,AF148509,AK074559,AK074699,AK126926,AK127005,AK128033,AK128257,AK128341,AK130143,AY358465,BC002953,BC006079,BE731944,BM848429,CR749534,AL110221,AB209276 NP_057303,CAI12781,CAH72871,CAH72887,EAW88345,EAW88346,EAW88347,BAD92513,AAD45504,AAF03215,BAC11060,BAC86786,AAQ88830,AAH02953,AAH06079,CAH18340,Q59G33,Q5VSF2,Q68D80,Q6ZT09,Q8N2P4,Q9UFZ8,Q9UKM7,CAB53680,ABM82787,ABM85976 Hs.591887 GDB:9957559 MANA-ER protein-coding 1320140 MAN1C1 mannosidase, alpha, class 1C, member 1 1580863 2406237,2355006,2283726,10915796,17727818,16964243,16710414,16344560,15231748,12477932,8889548,8093218,3264072,3099781,2829950,1736542,12560567,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172 57134 NM_020379,AL020996,AL031280,CH471059,AB209275,AF261655,AF318353,AK128560,BC038959,BC137017,CR624971,DA068812 NP_065112,EAX07870,EAX07871,BAD92512,AAF97058,AAL55860,AAI37018,Q59G34,Q5THI9,Q8WYU7,Q9NR34 Hs.197043 GDB:11510164 HMIC|MAN1A3|MAN1C|pp6318 protein-coding 735705 MAN2A1 mannosidase, alpha, class 2A, member 1 This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. 1580863 8524845,18174230,17466984,16335952,15004235,12477932,11158608,9230311,8314846,3922977,1885615,1757461,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726 4124 NM_002372,AC008417,AC011366,AC012603,CH471086,AL833486,BC031659,BC043416,BC142656,BC142696,BX341412,BX643508,D63998,U31520 NP_002363,EAW49048,AAH43416,AAI42657,AAI42697,BAA10017,AAC50302,Q16706,Q49A69 Hs.432822 GDB:136413 GOLIM7|MANA2|MANII mannosidase 2, alpha 1 protein-coding 1321024 MAN2A2 mannosidase, alpha, class 2A, member 2 1580863 16169070,14759258,8524845,12560567,11530211,9109416,8673525,2829950,2649653,2542563,2541446,2187500,8093218,3264072,3099781,1736542,8892864,8218172,2355006,2283726 4122 NM_006122,AC067986,AC068831,CH471101,AF116691,AI361497,AI697595,AK289863,AL110288,AL832306,D55649,L28821 NP_006113,EAX02118,EAX02119,EAX02120,EAX02121,EAX02122,EAX02123,EAX02124,AAF71111,BAF82552,BAA09510,AAA92022,P49641,Q9P1E4 Hs.116459 GDB:5215240 MANA2X protein-coding 1348586 MAN2B1 mannosidase, alpha, class 2B, member 1 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. 1580863 8910458,16344560,15712269,15489334,12754519,12718372,12477932,9915946,9758606,9192839,9158146,8889548,8166692,7832746,3034518,848490,821469,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726 4125 NM_000528,AC010422,CH471106,U60885,U60886,U60887,U60888,U60889,U60890,U60891,U60892,U60893,U60894,U60895,U60896,U60897,U60898,U60899,AB209921,AK291572,AU127707,AU128464,AW172353,BC000736,BI828908,BM147968,BM982008,BU659731,CR623129,DB237901,U05572,U60266,U68382,U68567 NP_000519,EAW84279,EAW84280,EAW84281,AAC51362,BAD93158,BAF84261,AAH00736,AAB03816,AAC34130,AAC50811,AAC50812,O00754,Q59E90,Q93093,ABM82804,ABM85992 Hs.356769 GDB:119376 LAMAN|MANB protein-coding 1318845 MAN2B2 mannosidase, alpha, class 2B, member 2 1580863 16303743,16115860,15815621,15489334,12477932,10407159,10231032,9425289,8889548,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8892864,8218172,2355006,2283726 23324 NM_015274,AC093323,CH471131,AA453331,AB023152,AK025803,AK075246,AL832232,AL833071,BC033307,BC036836,BC094773,BM146210,CF135581 NP_056089,EAW82389,EAW82390,EAW82391,EAW82392,BAA76779,CAD89971,AAH33307,AAH36836,AAH94773,Q05BN7,Q4VC00,Q9Y2E5 Hs.188464 KIAA0935 protein-coding 733679 MAN2C1 mannosidase, alpha, class 2C, member 1 1580863 14667819,17081983,16721356,15489334,12643454,12477932,11230166,9373149,8452531,8125298,3709545,2420791,1757461,752528,396129,12560567,11530211,9109416,8673525,2829950,2649653,2542563,2541446,2187500,8093218,3264072,3099781,1736542,8892864,8218172,2355006,2283726 4123 NM_006715,AC068338,CH471136,AB209141,AF044414,AK225145,AL136876,BC010081,BC038594,BC050550,BC080191,BM151712,BX647111,CR602886,U37248 NP_006706,EAW99252,EAW99253,EAW99254,BAD92378,AAC00190,CAB66810,AAH50550,AAH80191,AAC00568,Q59GG8,Q68EM8,Q9NTJ4 Hs.26232,Hs.598731 GDB:119375 DKFZp686E23167|MAN6A8|MANA|MANA1|MGC87979 protein-coding 1314025 MANBA mannosidase, beta A, lysosomal This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. 1580863 9384606,17899454,16344560,15489334,12477932,8285582,7876128,12560567,8892864,8218172,2829950,2649653,2542563,2355006,2283726,8093218,3264072,3099781,1736542,11530211,9109416,8673525,2541446,2187500 4126 NM_005908,AF213884,CH471057,AB209846,AI079197,AK291598,AU132611,BC015743,CR596300,EU009130,U60337 NP_005899,AAF35233,EAX06137,BAD93083,BAF84287,AAH15743,ABS29701,AAC39573,O00462,Q59EG5 Hs.480415 GDB:125261 MANB1 protein-coding 1353788 MANBAL mannosidase, beta A, lysosomal-like 1580863 15489334,12477932,11780052 63905 CR602911,NM_022077,NM_001003897,AL034422,CH471077,AK026708,AK292971,AV753915,BC014672,BC016822,BI754866,BQ051237,CR593416,CR593460,CR594738,CR595823,CR598775,CR619234,CR622593 NP_071360,NP_001003897,CAB92736,EAW76068,EAW76069,EAW76070,EAW76071,BAF85660,AAH14672,AAH16822,Q9NQG1 Hs.6126 GDB:11506227 protein-coding 1353697 MANBB mannosidase, beta B, soluble 4127 GDB:125262 1345544 MANEA mannosidase, endo-alpha 18438686,16381901,15760709,15677381,15489336,14702039,14574404,12477932,11230166,11076863,9361017,12560567,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500 79694 NM_024641,AL671884,AJ577574,AK022900,AK291940,AY048774,AY048775,AY372528,BC137014,BC137016,BC146671,BC150199,BX537398,BX640869,CR936827 NP_078917,CAI17346,CAI17347,CAE12165,BAB14298,BAF84629,AAL07306,AAL07307,AAQ75077,AAI37015,AAI37017,AAI46672,AAI50200,CAD97640,CAE45927,Q0JT15,Q5SRI9,Q8WWX4,CAL37750,CAL38349,AAI46690 Hs.533323 DKFZp686D20120|FLJ12838|hEndo protein-coding 1604520 MANEAL mannosidase, endo-alpha-like 16710414,15489334,14702039,12477932 149175 Q5VSG8 NM_001031740,NM_152496,AL929472,CH471059,AB188490,AK055996,BC009952,BC031903,BC038190,BC063587,BC077730 NP_001026910,NP_689709,CAH70081,CAH70082,EAX07319,EAX07320,BAB71068,AAH09952,AAH31903,AAH63587,AAH77730,Q5VSG8 Hs.534562,Hs.594802 FLJ31434|MGC78681|RP11-109P14.3 protein-coding 1353615 MANSC1 MANSC domain containing 1 737633 15489334,14702039,12975309,12477932 737633 54682 NM_018050,AC007621,CH471094,AK001160,AK023622,AY358563,BC032998,CR621081 NP_060520,EAW96254,EAW96255,BAA91526,BAB14621,AAQ88926,AAH32998,Q9H8J5,Q9NW60,ABZ92341 Hs.591145 9130403P13Rik|FLJ10298|LOH12CR3 protein-coding 735751 MAOA monoamine oxidase A This gene encodes monoamine oxidase A, an enzyme that degrades amine neurotransmitters, such as dopamine, norepinephrine, and serotonin. The protein localizes to the mitochondrial outer membrane. The gene is adjacent to a related gene on the opposite strand of chromosome X. Mutation in this gene results in monoamine oxidase deficiency, or Brunner syndrome. 1600723,1600725,1600720,1580863 17220478,8211186,18486967,18474080,18437281,18430257,18405071,18405062,18388730,18387780,18361446,18337637,18294618,18270970,18261931,18239643,18227761,18188752,18092818,18079067,18075472,18046979,18046978,18029114,18023041,17944104,12824808,12815746,12778446,12777388,12773616,12668354,12650952,12648733,12629534,12607224,12566936,12563176,12555234,12555227,12554604,12502014,12497620,12497608,12477932,12445480,12428723,12399942,12360111,12170473,17920180,17894408,17885625,17884271,17883400,17868476,17728669,17692293,17680543,17657171,17627031,17592478,17585061,17563839,17534436,17519928,17476365,17453062,17449559,17440951,17429405,17427196,17426915,17417058,17406964,17400359,17393061,17340199,17328795,17298646,17295220,17230031,17221847,17217235,17208375,17192957,17167335,17141746,17044053,17034017,17026953,17020906,17008143,17007976,16958037,16944667,16930369,16896926,16894395,16893905,16890910,16856146,16848906,16829576,16814261,16806099,16801953,16770335,16763378,16741202,16728402,16725119,17943028,17931441,16674552,16610949,16584839,16547693,16538182,16538181,16526025,16360899,16319504,16272956,16207390,16202396,16186632,16174289,16139427,16129825,16125147,16110245,16094253,15990460,15956990,15936529,15900229,15870836,15806601,15722955,15694196,15670397,15635592,15564894,15556933,15539858,15523490,15498245,15489334,15486489,15457497,15450911,15349769,15346539,15341275,15292674,15261699,15241435,15211623,15150530,15094788,15088154,15088153,15052272,15034227,15024395,14962671,14697881,14520117,12919132,12886034,12877392,12164325,12163988,12161658,12151768,12140786,12136060,12116182,12098640,11999895,11992560,11992559,11992558,11963571,11945082,11927135,11920860,11861643,11812236,11805333,11761322,11304831,11140838,11121185,10647887,9373149,8889548,8678123,8584674,8316221,8125298,7519662,7063850,3418353,3387449,3178846,2793188,2764901,2414414,2023912,2021654,1886775,1783405,1578281,1432104,11443519,11353450 1600723,1600725,1600720 4128 NM_000240,AL109855,AY684850,AY684858,AY685682,AY685685,BX530072,BX537147,BX537148,CH471141,M68845,M68857,M89636,S72704,S81371,X60811,X60813,X60819,AK223499,AK291769,BC008064,BC044787,BG534382,BT006651,BU684121,BX501303,M68840,M69226,X17192 NP_000231,AAV34705,AAV34711,AAV34717,AAV34720,CAI42421,EAW59381,EAW59382,EAW59383,AAA59547,AAB46385,AAD14113,AAD14361,BAD97219,BAF84458,AAH08064,AAH44787,AAP35297,AAA59548,AAA59549,P21397,Q49A63,Q53EZ0,Q5HYP1,Q5UL91,Q5UL94,Q5ULA3,Q5ULA9,ABM81602,ABM84783 Hs.183109 GDB:120164 protein-coding 732580 MAOB monoamine oxidase B The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. 1358484,1300048,1580863 8602220,7063850,18327668,18270970,18205889,18092818,17938636,17918234,17640790,17628790,17449559,17427196,17289152,17270484,17044053,16807522,16674552,16610949,16484337,16427095,16366596,16344560,16129825,15955630,15921854,15862518,15772651,15753616,15710600,15699372,15694196,15589121,15461973,15355491,15261699,15247489,15211623,15057517,15028609,15027868,15024015,14962671,14743364,14697881,14659989,12963742,12913124,12855685,12825788,12815741,12815660,12777388,12563176,12477932,12465073,12428723,12360111,12136060,12011284,11956220,11861643,11761322,11753429,11396715,11295131,11171904,11049757,10653595,9596006,9045087,8889548,8665924,8613523,8515265,8316221,8060341,7499273,6951409,4687789,3540317,3387449,2023912,1432104,12763335,12732844,12098640,16189514 1358484 4129 BM726427,CA975968,DC326844,M69177,S62734,NM_000898,AL008709,BX537148,CH471141,M69135,M89637,Z95125,AL133791,AU127841,BC022494 AAA59550,AAB27229,P27338,Q5HYN8,Q8TBI1,NP_000889,EAW59378,EAW59379,EAW59380,AAA59551,AAB46386,AAH22494 Hs.654473 GDB:119377 MGC26382 protein-coding 736437 MAP1A microtubule-associated protein 1A This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. 1580863 15591041,15342556,15202935,12477932,12411430,12123681,11925566,11896150,12812986,8812494,18056259,17081983,16996626,15592455,11418592,11278895,11164566,11002287,10747088,9786987,9593747,7908909,7908020,7820861,7806212,7629894,6142895,2470876,8997639,2212989,15231747 4130 NM_002373,AC019011,CH471125,U38291,Z47035,Z47038,AF095910,AF200415,AI124707,AK291052,AW296788,AW379921,BC010470,BC055312,BC094702,BI756580,BP309709,BQ000917,CR594234,U14577,U38292,U80458 NP_002364,EAW92606,EAW92607,EAW92608,AAB41132,CAA87104,AAF03480,AAF08305,BAF83741,AAH55312,AAH94702,AAA81362,AAB41133,AAD00355,P78559,Q504X9,Q7Z5F9,Q9UL09 Hs.194301,Hs.619338 GDB:132858 FLJ77111|MAP1L|MTAP1A microtubule-associated protein 1 a protein-coding 733041 MAP1B microtubule-associated protein 1B This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. 737795,1580863 12147674,1881920,17081983,16996626,16478718,16212419,15762842,15345747,14760703,14702039,12807913,12689591,12684070,12477932,11733546,11102469,11002287,10899930,10764738,9892354,9813091,9570753,9533556,7806212,7519512,2470876,1712602,15205320,15381419 737795 4131 AK055112,AK096273,AK125194,BC017240,BC025240,BC032516,BC033486,BC039822,BC046114,BC056145,BC062464,BC063669,BC073993,BC094834,BC108733,BC139918,BC141853,BC150196,BN001084,BN001085,BX647077,CA429544,CR595522,CR601693,CR613305,CR619734,CR933720,Y09836,NM_005909,AC012609,AC093218,CH471084,L06237,L31916,AF085863 AAH17240,AAH32516,AAH46114,AAH94834,AAI08734,AAI39919,AAI41854,AAI50197,CAM06633,CAM12311,CAI46250,P46821,Q05BW8,Q32NB7,Q4VBY4,Q5H9P1,Q6PJD3,Q86X89,NP_005900,EAW95696,EAW95697,EAW95698,EAW95699,EAW95700,AAA18904 Hs.637017 GDB:128646 DKFZp686E1099|DKFZp686F1345|FLJ38954|FUTSCH|MAP5 protein-coding 1605558 MAP1D methionine aminopeptidase 1D The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM] 14532271,16568094,14702039,12477932 254042 NM_199227,AC015976,CH471058,CQ819354,AK093827,AY374142,BC029123,BC113644,DQ005576 NP_954697,EAX11188,EAX11189,EAX11190,EAX11191,CAG34354,AAR27795,AAI13645,AAY55948,Q6UB28 Hs.298250 protein-coding 1347480 MAP1LC3A microtubule-associated protein 1 light chain 3 alpha MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. 1580863,1643329,1643198 12740394,17804493,17580304,17438365,17102583,16381901,16303767,15857831,15489336,15489334,15383276,15213446,15187094,12477932,11780052,11278895,11230166,11076863,8833088,7908909,2470876,8997639,2212989 1643329,1643198 84557 NM_181509,NM_032514,AL118520,CH471077,AF276658,AL833855,BC015810,BM919877,BT007452,CR597014,H18312 Q9H492,CAL37468,ABM84567,ABM86462,NP_852610,NP_115903,CAC14078,CAI40290,EAW76263,EAW76264,EAW76265,EAW76266,AAK35151,CAD38714,AAH15810,AAP36120,Q0JVJ2,Q5JWU0 Hs.632273 GDB:10796497 LC3|LC3A|MAP1ALC3|MAP1BLC3 protein-coding 1350223 MAP1LC3B microtubule-associated protein 1 light chain 3 beta The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. 1580863,1643329 15187094,15355958,12740394,11256614,16381901,16189514,16169070,15489336,15489334,15325588,15231747,14713272,14702039,12932674,12477932,11890701,11825910,11076863,11060023,8997639,2212989 1643329 81631 NM_022818,AC010531,CH471114,AF087871,AF183417,AF303888,AK024571,AK025556,AK290956,AL834298,BC018634,BC041874,BC045759,BC048009,BC067797,BG771621,CR590953,CR591139,CR601539,CR611354,CR614938 NP_073729,EAW95392,EAW95393,EAW95394,EAW95395,EAW95396,EAW95397,EAW95398,EAW95399,AAM10499,AAG09686,AAG23182,BAB15169,BAF83645,CAD38970,AAH18634,AAH41874,AAH45759,AAH67797,Q49A36,Q658J6,Q9GZQ8,CAL38438,ABM84078,ABM87447 Hs.356061 GDB:11510570 MAP1A/1BLC3 protein-coding 1606859 MAP1LC3C microtubule-associated protein 1 light chain 3 gamma 12740394,16710414,15489334,15187094,12477932,8997639,2212989 440738 NM_001004343,BX571673,CH471098,AF276659,BC127722,BC132986,BC132988 NP_001004343,CAH72477,EAW70108,AAK35152,AAI27723,AAI32987,AAI32989,Q9BXW4 Hs.534971 protein-coding 1350200 MAP1LC3P microtubule-associated protein 1 light chain 3 pseudogene 387615 NG_004859,AC098848,AY389342 HsT312 pseudo 1317942 MAP1S microtubule-associated protein 1S 15907802,15528209,12762840,14627543,16297881,16396496,15302935,14702039,12477932,11827465,15753381,15205320 55201 AC008761,CH471106,AA905204,AB062430,AJ440784,AK001531,AK023118,AK027623,AK292555,AL834233,BC006358,BC007253,BC008806,BC067115,BC080547,BC113952,BG771546,CR593726,CR610661,CR620607,DQ387861,NM_018174 NP_060644,EAW84626,BAB93493,CAD29574,BAA91743,BAB14415,BAB55242,BAF85244,CAD38911,AAH06358,AAH07253,AAH08806,AAH67115,AAH80547,AAI13953,ABD47682,Q66K74 Hs.66048 BPY2IP1|C19orf5|FLJ10669|MAP8|MGC133087|VCY2IP-1|VCY2IP1 bpy2 interacting protein 1 protein-coding 733668 MAP2 microtubule-associated protein 2 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isforms have been described. 1580863 9588626,7854050,18073143,17326138,17081983,16916793,16611822,16195780,15822905,15623521,15536091,15465982,15345747,15146346,14759258,14702039,14604896,14594945,12927759,12890753,12775713,12605092,12477932,12082079,12079519,12023276,11922706,11546790,11171103,11029056,10781592,10527895,8631898,8624078,8294038,7479905,3200318,3103857,3027087,2701845,2561973,2481044,2455776,1708129,15285795,15285794,8997639,2212989,1494913,7556643,10862698,12629046 4133 NM_001039538,NM_002374,NM_031847,NM_031845,AC006385,AC019106,AC079833,U34061,AB209330,AF088065,AK055674,AK056148,AK291446,AL833567,AV718243,BC027583,BC038857,BC066648,BC110423,BC117123,BX431335,BX474027,BX485448,BX490896,CK903071,M25668,S76756,U01828,U89329,U89330,AC108072,CH471063 NP_001034627,NP_002365,NP_114035,NP_114033,EAW70454,EAW70455,EAW70456,EAW70457,EAW70458,EAW70459,EAW70460,EAW70461,EAW70462,EAW70463,EAW70464,BAD92567,BAF84135,AAH27583,AAH38857,AAH66648,AAI10424,AAI17124,AAA59552,AAB33379,AAA03354,AAB48097,AAB48098,P11137,Q16296,Q17S04,Q4G184,Q59FX9,Q6NYC5,Q8IUX2,EAW70453 Hs.368281 GDB:118836 DKFZp686I2148|MAP2A|MAP2B|MAP2C protein-coding 732023 MAP2K1 mitogen-activated protein kinase kinase 1 The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. 1580863,1580093,1582169,1357969,1302505,1626216,2292630,2292631,2292627,2292629 8388392,15299019,11520933,10912793,10570282,18390968,18192500,18042262,17981815,17951252,17704260,17667937,17603482,17490600,17461449,17419998,17366577,17260965,17197157,17192257,17182854,17101779,17054908,17038630,16957420,16913865,16861903,16820947,16737746,16728640,16439621,16344560,16313339,16239230,16086581,15979847,15888452,15757891,15665520,15657590,15657353,15615716,15572374,15557124,15543157,15538402,15353548,15302887,15297310,15292274,15284233,15069060,12167619,12063167,12032872,11948406,11891225,11823456,11741894,11684694,11604401,11579140,11535599,11409852,11352917,11278389,11266467,11260070,11226259,11134045,11104681,11044439,11044099,10997882,10982368,10848576,10828601,10806207,10799874,10780709,10757792,10748187,10716983,10523642,10509564,15020233,14672918,14656894,14581471,12975377,12917419,12839928,12807433,12792650,12697810,12689928,12682854,12663662,12612059,12609978,12594221,12556561,12531514,12522145,12522135,12482669,12456688,12370306,15021912,10489373,10395327,9841871,9733512,9621077,9563949,9558095,9553107,9465908,9351825,9325171,9223324,8939914,8626767,8621729,8529659,8394352,8226933,8157000,8131746,7969158,7957875,7731720,7624324,7601337,1281467,12775419,12089333,9564043,16454711,15638726,11726657,15866172,14724641,15258589,10969079 1580093,1582169,1357969,1302505,1626216,2292630,2292631,2292627,2292629 5604 NM_002755,AC011276,AC055855,AC116913,CH471082,AK291500,AK312356,BC139729,BE856741,BG709050,CA419665,CR604502,CR621481,DA653983,L05624,L11284 NP_002746,EAW77765,EAW77766,EAW77767,EAW77768,EAW77769,BAF84189,AAI39730,AAA36318,Q02750 Hs.145442 GDB:136418 MAPKK1|MEK1|MKK1|PRKMK1 mitogen activated protein kinase kinase 1 protein-coding 1316146 MAP2K1IP1 mitogen-activated protein kinase kinase 1 interacting protein 1 The protein encoded by this gene was identified as an interacting protein that binds specifically to MAP kinase kinase MAP2K1/MEK1 and to MAP kinase MAPK2/ERK1. This protein enhances the activation of MAPK2, and thus is thought to function as an adaptor to enhance the efficiency of the MAP kinase cascade. 15016825,17908799,17254543,17178906,17113937,15923628,15547943,15489334,15263099,15118098,14702039,14611647,12479806,12477932,11266467,9733512,9373149,8125298,10517496,12975377 8649 NM_021970,AP001962,CH471057,AF130115,AF201947,AK093581,AK223311,BC005340,BC026245,BC110402,BI562630,CR598975,CR602830,CR611511,CR613681 NP_068805,EAX06112,EAX06113,AAG35540,AAF17239,BAD97031,AAH26245,Q0P6J0,Q53FH6,Q9UHA4,ABM84034,ABM87380 Hs.696082 GDB:11500567 MAPBP|MP1 protein-coding 1350730 MAP2K1P1 mitogen-activated protein kinase kinase 1 pseudogene 1 29778 NG_001273,AC044849,AF157487 GDB:10796037 pseudo 1343460 MAP2K2 mitogen-activated protein kinase kinase 2 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. 1580863,1626216,2292627 11909642,11520933,8388392,18390968,18042262,17981815,17704260,17603482,17461449,17419998,17366577,17192257,17101779,17081983,17038630,16964243,16957420,16651638,16439621,16332685,16239230,15979847,15543157,15489334,15302935,15292274,15284233,15071496,14702039,14672918,14656894,14517288,14499342,12839928,12792650,12612059,12582162,12531514,12505790,12482669,12477932,12167619,12063167,12032872,11823456,11579140,11409852,11260070,11134045,11104681,11044099,10982368,10862698,10828601,10799874,10780709,10509564,10489373,10224087,9915804,9781012,9733512,9671314,9621077,9563949,9558095,9427625,9325171,9223324,9159118,8702863,8668348,8626767,8529659,8393135,8226933,8157000,7839144,7687743,7566098,16103188,12775419,12089333,16454711,15638726,11726657,16189514,14724641 1626216,2292627 5605 NM_030662,AC016586,CH471139,AA312322,AK093125,AK126446,AK129586,BC000471,BC018645,BX538081,CR609681,CR615045,CR617539,L11285 NP_109587,EAW69262,EAW69263,EAW69264,EAW69265,BAC85187,AAH00471,AAH18645,CAD98005,P36507,Q6ZPC5,Q7Z370,ABM84527,ABM85986 Hs.465627 GDB:202924 FLJ26075|MAPKK2|MEK2|MKK2|PRKMK2 protein-coding 1315342 MAP2K3 mitogen-activated protein kinase kinase 3 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. 1580863,1641940 7839144,11980910,17438131,17406030,16728640,16709574,16344560,15797859,15778394,15677464,15516490,15489334,15375157,14702039,13679851,12589052,12477932,12377770,12054652,12024021,11971971,11414763,11279172,11279118,11181995,11062067,10997882,10856288,10497253,9841871,9786855,9768359,9465908,9373149,9038352,8900184,8626699,8622669,8226933,8125298,7750576,16189514,15866172 1641940 5606 NM_145109,NM_002756,AC087294,CH879350,U66840,AI758302,AK093838,AK223490,BC032478,BM836867,CR536514,CR541793,CR597835,D87116,DA131175,L36719,U66839 NP_659731,NP_002747,EAW50386,AAB40653,BAD97210,AAH32478,CAG38752,CAG46592,BAA13248,AAC41718,AAB40652,P46734,Q53EZ9,Q6FHG1,Q6FI23,ABM85114 Hs.514012 GDB:9539640 MAPKK3|MEK3|MKK3|PRKMK3 protein-coding 1316000 MAP2K4 mitogen-activated protein kinase kinase 4 This gene encodes a dual specificity protein kinase that belongs to the Ser/Thr protein kinase family. This kinase is a direct activator of MAP kinases in response to various environmental stresses or mitogenic stimuli. It has been shown to activate MAPK8/JNK1, MAPK9/JNK2, and MAPK14/p38, but not MAPK1/ERK2 or MAPK3/ERK3. This kinase is phosphorylated, and thus activated by MAP3K1/MEKK. The knockout studies in mice suggested the roles of this kinase in mediating survival signal in T cell development, as well as in the organogenesis of liver. 1580863,2289400,2293334,2293338,2293332,2293337,2293333 17675521,17389591,17322004,17178861,17158870,17009014,16964394,16802349,16533805,16709574,7716521,16627982,16388335,16339111,16197369,16167336,15911620,15737736,15670787,15623633,15592684,15496400,15328343,15262961,15256484,14716300,14702039,14661062,14511403,14504284,13130464,12788955,12730213,12714585,12556533,12477932,12456688,12391307,12368275,12223490,12220515,12189133,11836244,11754110,11707464,11346645,11306453,11104681,11090355,11062067,10715136,10521444,10489373,10187804,9841871,9761781,9661668,9622070,9582321,9405400,9331070,9182538,9162092,9006895,9002521,8786147,8755474,8631303,7997270,7839144,10523642,15866172,12659851,10969079,9808624,15299019 2289400,2293334,2293338,2293332,2293337,2293333 6416 NM_003010,AC005244,AC005410,AF070082,AF070085,AF070088,AF070090,CH471108,DQ015703,AA293365,AK122997,AK131544,BC036032,BC050386,BC060764,BT019676,CR536564,CR600508,CR601866,L31902,L36870,U17743 NP_003001,AAC24130,EAW89973,EAW89974,EAW89975,EAW89976,AAY22176,AAH36032,AAH60764,AAV38482,CAG38801,AAC41719,AAC50127,P45985,Q6FHX4,Q6P9H2,Q6PIE6 Hs.514681 GDB:5875361 JNKK|JNKK1|MAPKK4|MEK4|MKK4|PRKMK4|SEK1|SERK1 protein-coding 735708 MAP2K5 mitogen-activated protein kinase kinase 5 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. 1580866,1580863,1582271 7759517,17872495,17637780,16728640,15489334,15378007,15075238,14743216,14702039,14583600,12618764,12477932,12219026,11520859,11387209,11158308,11073940,10593883,10531364,9790194,9384584,7499418,16189514,12813044,12659851,12628002 1580866,1582271 5607 NM_145160,NM_002757,AC009292,AC016355,AC103753,CH471082,AK024766,AK057521,BC008838,BI460343,BT006780,CR542229,CR592618,CR611862,CR620602,CR624401,U71087,U71088 NP_660143,NP_002748,EAW77799,EAW77800,EAW77801,EAW77802,AAH08838,AAP35426,CAG47025,AAB16851,AAB16852,Q13163 Hs.114198 GDB:9539645 HsT17454|MAPKK5|MEK5|PRKMK5 protein-coding 732805 MAP2K6 mitogen-activated protein kinase kinase 6 This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. 1582277,1302548,1580863,1582275,2293334,2293337,2293338 8621675,18327563,16960152,16728640,16498455,16344560,16342939,16313339,15866172,15790570,15778394,15722372,15677464,15550393,15516490,15492008,15489334,15375157,12589052,12509443,12477932,12054652,11971971,11836244,11727828,11460167,11279118,11104681,11062067,10961885,10570156,10497253,9841871,9768359,9430721,9373149,9218798,8861944,8663074,8626699,8622669,8125298,7750576,16189514,12697810,14633987,10848581,12761180 1582277,1302548,1582275,2293334,2293337,2293338 5608 AC002546,AC015920,CH471099,AA932919,AK225719,AK290747,BC012009,BX641121,CR604345,CR616398,CR624804,CR625265,D87905,DB111443,U39064,U39065,U39656,U39657,U49732,X96757,NM_002758 CAA65532,P52564,ABM82414,ABM85599,NP_002749,EAW89084,EAW89085,EAW89086,BAF83436,AAH12009,CAE46056,BAA13496,AAB03708,AAB03705,AAC50388,AAC50389,AAB05035 Hs.463978 GDB:1230470 MAPKK6|MEK6|MKK6|PRKMK6|SAPKK3 protein-coding 1347407 MAP2K7 mitogen-activated protein kinase kinase 7 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found, but only one transcript variant has been supported and defined. 1580863,2293334,2293337,2293338 9535930,15299019,14697235,18343408,18222647,17485467,16802349,16533805,16442502,15489334,13130464,12477932,12220515,11891214,11390361,11318610,11274363,11104681,9661668,9488659,9372971,9312068,9207092,16243842,16189514,15465036,14743220,11959862,11959861,12138158,10756100,10490659,12189133,10629060,10713157,10187804,11062067,11836244,15866172,15001580,15753034,12659851,10347227,10969079 2293334,2293337,2293338 5609 NM_145185,AC010336,CH471139,AF003199,AF006689,AF013588,AF013589,AF014401,AF022805,AK098807,BC005365,BC038295,CR604614,DQ445915 NP_660186,EAW68962,EAW68963,EAW68964,EAW68965,EAW68966,EAW68967,EAW68968,AAB63374,AAB97813,AAC16272,AAC16273,AAB88048,AAC26142,AAH38295,ABE03013,O14733,ABM82200,ABM85388 Hs.531754 GDB:9836473 Jnkk2|MAPKK7|MKK7|PRKMK7 protein-coding 733801 MAP3K1 mitogen-activated protein kinase kinase kinase 1 MAP3K, or MEK kinase, is a serine/threonine kinase that occupies a pivotal role in a network of phosphorylating enzymes integrating cellular responses to a number of mitogenic and metabolic stimuli, including insulin (MIM 176730) and many growth factors.[supplied by OMIM] 1580863,1357969,737800,2289657,2293357,2293356 18437204,18434448,18355772,18032450,17997823,17529967,17397260,17301822,16760432,16714289,16434970,16344560,16046415,16044153,15299005,15205333,14743216,14612408,14500727,12878610,12763138,12600818,12584189,12456688,12228228,12185592,12079429,12048245,11971971,11971970,11903060,11815602,11782455,11756439,11746500,10805784,10611349,9836645,9689078,9008162,9808624,11784851,16286467,16636664,15276183,10465784,8597633,10523642,9135144,9452471,9563508,10346818,9582321,10969079,9712898,9372971,9065412,9516438,9819420,9733714,15866172,12049732,15829968,9405400 1357969,737800,2289657,2293357,2293356 4214 NM_005921,AC008937,U29671,AA602425,AF042838,BU194120,BX537527,DA889202 NP_005912,AAB05828,AAC97073,Q13233 Hs.657756 GDB:9558576 MAPKKK1|MEKK|MEKK1 protein-coding 1318115 MAP3K10 mitogen-activated protein kinase kinase kinase 10 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. 1580863 8195146,10801775,17584736,17121608,15753034,15062575,14504284,12477932,12105200,11850617,11416147,11152698,11076863,9742220,9629920,9516438,9427749,9182538,8536694,8477742,7731697,12881483 4294 NM_002446,AC011496,AC118344,CH471126,CR605472,X90846,Z48615 NP_002437,EAW56937,CAA62351,CAA88531,Q02779,AAI11461 Hs.466743 GDB:362654 MLK2|MST protein-coding 1347603 MAP3K11 mitogen-activated protein kinase kinase kinase 11 The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. 1580863 11784851,9829970,8195146,15258589,12529434,18222647,17711861,17584736,17192257,16964243,16687404,16537381,16344560,16253996,12354290,12190962,15923109,15489334,15069087,15001580,14702039,14504284,12504027,12477932,12458207,12376551,11969422,11713255,11590155,11306803,11053428,10799501,10713178,10629060,10490659,10187804,9430657,9427749,9373149,9267807,8183572,8125298 4296 NM_002419,AP001362,CH471076,CS079388,AB209655,AK057256,AK090614,AK092015,AK222781,AU119082,BC011263,BC064543,CR608023,L32976,U07747 NP_002410,EAW74417,EAW74418,CAI94235,BAD92892,BAD96501,AAH11263,AAH64543,AAA59859,AAA19647,Q16584 Hs.502872 GDB:134755 MGC17114|MLK-3|MLK3|PTK1|SPRK protein-coding 737536 MAP3K12 mitogen-activated protein kinase kinase kinase 12 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a leucine-zipper domain, and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. 1580863 16169070,14697235,9353328,7983011,8663324,15695824,15611134,15489334,14702039,12477932,14504284,10922377,10801814,10490457,10442638,10187804,8637721,8037767,7790002 7786 NM_006301,AC023509,AF283475,CH471054,AB209453,AK094195,BC037585,BC050050,U07358 NP_006292,AAL67158,EAW96712,EAW96713,EAW96714,EAW96715,EAW96716,BAD92690,AAH50050,AAA67343,Q12852,Q59FK7 Hs.706769 GDB:383963 DLK|MUK|ZPK|ZPKP1 protein-coding 1351586 MAP3K13 mitogen-activated protein kinase kinase kinase 13 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. 1580863 11726277,11163770,9353328,12492477,15489334,12477932,12186766,8274451 9175 NM_004721,AC099661,AC132516,CH471052,AB001872,BC031677,BC111726,Z25428 NP_004712,EAW78224,EAW78225,BAA24817,AAH31677,AAI11727,CAA80915,O43283 Hs.656069 GDB:9955169 LZK|MGC133196 protein-coding 1321416 MAP3K14 mitogen-activated protein kinase kinase kinase 14 This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. 1580863 9520446,10094049,10733566,11035039,12874243,16286467,18022362,18434448,18056702,17729113,17543278,16434407,16344560,16009713,15489334,15252129,15208311,15084608,14743216,14743126,12853971,12477932,12393548,12049732,11801607,11585904,11511100,11278268,11239468,11116146,11002417,10887201,10779355,10521444,10195894,10072079,10022904,9927690,9819420,9799091,9751059,9742107,9689078,9346485,9275204,9244310,9020361,16189514 9020 NM_003954,AC003070,AC003963,AC008105,CH471178,DQ314874,AK123696,AK131438,AK290203,BC022296,BC035576,BU623799,CR612342,CR749592,DA856801,Y10256 NP_003945,EAW51529,EAW51530,ABC40733,BAD18584,BAF82892,AAH35576,CAH18391,CAA71306,Q68D39,Q6ZMZ1,Q99558,ABM84990 Hs.404183 GDB:9954772 FTDCR1B|HS|HSNIK|NIK protein-coding 1345894 MAP3K15 mitogen-activated protein kinase kinase kinase 15 15772651,14702039 389840 NM_001001671,AL732326,AL732423,CH471074,AK122632,AK131412,AK131477 NP_001001671,EAW98962,EAW98963,BAD18559,BAD18622,Q6ZN16 Hs.708233 FLJ16518|bA723P2.3 protein-coding 1354206 MAP3K2 mitogen-activated protein kinase kinase kinase 2 The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. 1580863 8621389,17192257,16001074,15988011,15815621,15075238,14734742,14702039,12477932,11032806,10818102,10713157,10085062,15778465,9452471,7997270,9372971,15324660,12912994,12659851 10746 NM_006609,AC068282,AC110926,CH471103,CS116757,AB208963,AF111105,AF239798,AI760702,AK027345,AK074577,AK075004,BC065755,BM470563,BQ423724,W07290 NP_006600,AAY15043,AAY15070,EAW95315,EAW95316,CAJ15104,BAD92200,AAD28547,AAF63496,BAB55050,BAC11348,AAH65755,Q6P084,Q96K88,Q9Y2U5 Hs.145605 GDB:9958242 MEKK2|MEKK2B protein-coding 1312092 MAP3K3 mitogen-activated protein kinase kinase kinase 3 This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 9006902,14743216,12761501,15001576,11256614,17985933,16737960,16407301,16381901,16260783,16039990,15572679,15489336,15047705,14702039,14662759,14661019,12912994,12477932,12392720,12391307,12065326,11429546,11230166,11076863,11073940,10700190,10593883,9452471,9373149,8889548,8125298,15205325,16189514 4215 NM_203351,NM_002401,AC046185,CH471109,CQ760470,AF172823,AK022333,AK225784,AL834303,BC008336,BC010464,BC018021,BC090859,BC093672,BC093674,BM479726,BM728104,BM800091,BQ643432,BU633068,DQ454151,U78876 NP_976226,NP_002392,EAW94297,EAW94298,EAW94299,CAF32906,AAQ13617,CAD38973,AAH08336,AAH10464,AAH90859,AAH93672,AAH93674,ABE11554,AAB41729,Q1PBM3,Q7Z4E6,Q8N3I9,Q96FS8,Q96HN9,Q99759,CAL37711 Hs.29282 GDB:9558579 MAPKKK3|MEKK3 protein-coding 1322520 MAP3K4 mitogen-activated protein kinase kinase kinase 4 The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Two alternatively spliced transcripts encoding distinct isoforms have been described. 1580863 9079650,9039502,7566098,15866172,9305639,17496914,16256071,16157600,15881658,15601262,15262978,14702039,12878610,12477932,12052864,11498536,9841871,9827804,9482735,9305638 4216 NM_006724,AL109942,AL139393,AL591045,AL596452,CH471051,AA314177,AF002715,AF116604,AK124430,BC146770,BQ009477,D86968,NM_005922 NP_006715,CAC12766,CAI21477,CAI20815,CAI20816,CAH70639,CAH70640,CAI41308,CAI41309,CAI41310,EAW47586,EAW47587,AAB68804,AAF71029,AAI46771,NP_005913,BAA13204,Q5VTT9,Q9H408,Q9P1M2,Q9Y6R4 Hs.390428 GDB:9558580 FLJ42439|KIAA0213|MAPKKK4|MEKK4|MTK1|PRO0412 protein-coding 1315043 MAP3K5 mitogen-activated protein kinase kinase kinase 5 Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. 1580863 17325029,17244475,17220297,16648474,16644673,16636664,16532036,16515547,16512785,16476732,15925322,15866172,15864780,15843568,15782121,15755722,15701637,15670787,15489334,15328343,15310755,15246877,15218033,15210709,15094778,15023544,14688258,14668338,14574404,12968034,12912994,12819028,12813029,12697749,12566458,12556535,12543931,12482984,12477932,12473108,17210579,14761963,11920685,8974401,18380010,18292600,18211888,18054391,18028450,17937911,17883330,17827388,17652454,17595347,17543279,17541429,17456047,17389591,17331470,11154276,11096076,11090355,11003656,10921914,10734135,10523862,10411906,9875215,9774977,9743501,9651337,9564042,9465908,8940179,11323689,14607843,14743220,12391142,12372597,12244106,12189133,12089063,12077134,12050113,11959862,11689443,11493600,11427728,11416155,11356842,11336675,11298454,11278289 4217 AL024508,NM_005923,AL121933,CH471051,AB209093,BC054503,BC088829,D84476,U67156 NP_005914,CAI20176,CAI15470,EAW47942,BAD92330,AAH54503,AAH88829,BAA12684,AAC50894,Q59GL6,Q99683 Hs.186486 GDB:9558583 ASK1|MAPKKK5|MEKK5 protein-coding 1312170 MAP3K6 mitogen-activated protein kinase kinase kinase 6 This gene encodes a member of the serine/threonine protein kinase family. The encoded kinase was identified by its interaction with MAP3K5/ASK, a protein kinase and an activator of c-Jun kinase (MAPK7/JNK) and MAPK14/p38 kinase. This kinase was found to weakly activate MAPK7, but not MAPK1/ERK or MAPK14. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. 1580863 9875215,18327563,17210579,12477932 9064 NM_004672,AL663123,CH471059,AB167411,AB208805,AF100318,AI582755,AI658745,BC015914,BC109032,BC129950,BC129951,BF115137,CR623497 NP_004663,CAI14778,CAI14780,CAM12869,EAX07758,BAD12485,BAD92042,AAD05304,AAH15914,AAI09033,AAI29951,AAI29952,O95382,Q32MQ5,Q5SSD3,Q5SSD4,Q5SSD5 Hs.194694 GDB:9954823 ASK2|MAPKKK6|MGC125653|MGC20114 protein-coding 1319782 MAP3K7 mitogen-activated protein kinase kinase kinase 7 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 14743216,14702039,14592977,14574404,12874243,12859960,12842894,12804775,12589052,12556533,12547194,12477932,12372426,12296995,12242293,12089335,12048196,11865055,11809792,11585904,11460167,11397816,11259596,11118615,11104763,10921914,10882101,10838074,10807933,10779355,10748100,10224067,10195894,10187861,10094049,10022904,9689078,9556573,9480845,9380693,9278437,8638164,8533096,7708055,3031469,14670075,14633987,12975377,15782160,9878061,9466656,15075345,15125833,9162092,9744859,10066798,12609980,18316610,18206350,17982039,17947700,17828308,17626013,17608743,17559674,17379600,17363973,17325661,17276978,17202147,17173073,17158449,17114179,17081983,16893890,16835226,16527194,16498455,16446357,16301747,16293250,16289117,16280329,16260783,16251197,16186825,16153868,16000313,15917296,15764709,15670770,15590691,15489334,15277532,15082531,14960582 6885 AB009358,AF218074,AK055901,AL050393,AL520975,BC017715,BT019654,BT019655,CR604679,NM_145333,NM_003188,NM_145332,NM_145331,AL121837,AL121964,CH471051,DQ314875,AB009356,AB009357 BAA25027,AAF27652,CAB43687,AAH17715,AAV38460,AAV38461,O43318,Q5TDM9,Q5U0C9,Q5U0D0,Q9NZ70,Q9UG54,NP_663306,NP_003179,NP_663305,NP_663304,CAI23530,CAI23531,CAI23532,CAI23533,CAI19613,EAW48525,EAW48526,EAW48527,EAW48528,EAW48529,ABC40734,BAA25025,BAA25026 Hs.644143 GDB:9837761 TAK1|TGF1a protein-coding 1314707 MAP3K7IP1 mitogen-activated protein kinase kinase kinase 7 interacting protein 1 The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 8638164,9162092,9744859,10066798,12609980,18316610,16879102,16648477,15590691,15489334,15324660,15282297,14743216,14670075,12829618,12598905,12482967,12477932,12429732,12372426,11847341,11737269,11518704,11323434,10838074,10702308,10591208,10187861,10094049,9878061,9663660,12589052,12975377 10454 NM_153497,NM_006116,CH471095,DQ314876,Z83845,AF425640,AI827837,AK291668,BC038582,BC050554,EF036484,U49928 NP_705717,NP_006107,EAW60325,EAW60326,EAW60327,EAW60328,EAW60329,EAW60330,EAW60331,ABC40735,CAB55304,AAN32760,BAF84357,AAH50554,ABO65070,AAC12660,Q15750,Q59FT7,Q8IZW2 Hs.507681 GDB:9838053 3'-Tab1|MGC57664|TAB1 protein-coding 1319911 MAP3K7IP2 mitogen-activated protein kinase kinase kinase 7 interacting protein 2 The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, thus serves as an adaptor linking MAP3K7 and TRAF6. This protein, TAB1, and MAP3K7 also participate in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. 1580863 12761501,9162092,9744859,10066798,12609980,17986383,17626013,17586463,17158449,16755651,16527194,16384851,16251197,15590691,15489334,15327770,15220215,14743216,14670075,14633987,14574404,12477932,12242293,12168954,12150997,12048196,11809792,11518704,11259596,10882101,9872452,8638164,15829968 23118 NM_015093,AL031133,AL138727,AL139103,CH471051,DQ314877,AB018276,AF241230,AK025538,AL050180,AL117407,BC035910,CR457387 NP_055908,CAI19581,CAI20971,EAW47805,EAW47806,EAW47807,ABC40736,BAA34453,AAF67176,CAB55907,AAH35910,CAG33668,Q9NYJ8 Hs.269775 GDB:9838054 FLJ21885|KIAA0733|TAB2 protein-coding 1603527 MAP3K7IP3 mitogen-activated protein kinase kinase kinase 7 interacting protein 3 The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 17158449,15489334,15327770,14766965,14743216,14702039,14670075,14633987,12477932,16189514 257397 AC108359,AC117405,CH471074,AK096786,AY331591,AY331592,AY371491,AY437560,BC032526,BU849692,NM_152787,AL832071 NP_690000,EAW99057,EAW99058,EAW99059,AAQ92938,AAQ92939,AAQ88279,AAR06179,AAH32526,Q5JPK0,Q8N5C8,CAI46137 Hs.188256 MGC45404|NAP1|TAB3 protein-coding 731488 MAP3K8 mitogen-activated protein kinase kinase kinase 8 This gene was identified by its oncogenic transforming activity in cells. The encoded protein is a member of the serine/threonine protein kinase family. This kinase can activate both the MAP kinase and JNK kinase pathways. This kinase was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This kinase was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. Studies of a similar gene in rat suggested the direct involvement of this kinase in the proteolysis of NF-kappaB1,p105 (NFKB1). This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. 1580863 15169888,8226782,2072910,18187448,17848581,17724252,17398070,17324460,17290588,16806191,16565081,16371247,16087150,15670770,15575964,15489334,15466476,15287022,15188402,15164054,14743216,14517305,12975377,12667451,12477932,12138205,11932422,11278268,10896655,10669751,10072079,9950430,9742107,9603908,9257820,8631303,8479752,1833717 1326 NM_005204,AL161651,AY309013,CH471072,AK290320,AL547407,BC104833,BC113566,CR542284,CR619928,D14497,Z14138 NP_005195,CAI14224,CAI14225,CAI14226,CAI14227,CAI14228,AAP45053,EAW86004,EAW86005,EAW86006,EAW86007,BAF83009,AAI04834,AAI13567,CAG47079,BAA03387,CAA78512,P41279,Q5T853,Q5T857,Q6FG25 Hs.432453 GDB:134538 COT|EST|ESTF|FLJ10486|TPL2|Tpl-2|c-COT protein-coding 1352186 MAP3K9 mitogen-activated protein kinase kinase kinase 9 8477742,8195146,15610029,15489334,14702039,14504284,12477932,11416147,8536694 4293 NM_033141,AC004816,CH471061,AF251442,AK091645,AK123430,AY327900,BC033197,BC040716,BC043010,BC111407,BC133706,BX648924 NP_149132,EAW81045,EAW81046,AAG44591,AAQ23054,AAH33197,AAI11408,AAI33707,P80192,Q8NEB1 Hs.445496,Hs.593542 GDB:141921 MLK1|PRKE1 protein-coding 1343248 MAP4 microtubule-associated protein 4 The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed, the full-length nature of three of which are supported. 1580863 14759258,15144186,14702039,14594945,14527689,12890753,12855424,12773533,12477932,12123579,12079337,11683421,10791892,10542369,10341201,9398320,9365275,9110174,8631898,8619474,7909279,7876309,7857940,1718985,1477887,16189514,1905296,17081983,16964243,16804917,16565220,16093351,15840946,15528234,15489334,15302935 4134 BC051843,BC067228,BG760540,BI549723,CR598007,CR611651,CR749544,M64571,U19727,AK091042,AK125245,AL831878,NM_002375,BC008715,BC012794,BC015149,BC019229,BC048200,NM_030884,NM_030885,AC124916,AC139667,CH471055,AA447222,AB209377,AF052156,AF454938,AK054577,AK054696 AAH51843,AAH67228,CAH18346,AAA59553,AAA67361,P27816,Q05D06,Q6NX68,Q7Z4R3,Q86V26,Q86Y04,Q8NDS5,Q8TB56,BAB70795,BAC86099,CAD38562,AAH08715,AAH12794,AAH15149,AAH19229,AAH48200,NP_002366,NP_112146,NP_112147,EAW64837,EAW64838,EAW64839,EAW64840,EAW64841,EAW64842,EAW64843,EAW64844,EAW64845,EAW64846,EAW64847,EAW64848,BAD92614,AAP97697 Hs.517949 GDB:127520 DKFZp779A1753|MGC8617 protein-coding 1313504 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 1580863 8824585,11053428,9788432,17895239,17712048,17353368,17192257,17024227,16449643,16341093,15743830,15364934,15302935,14563325,12522005,11514608,11487585,11432831,11313918,11279207,11278340,10602493,10567356,10233887,10224067,9891069,9346925 11184 NM_001042600,NM_007181,AC005933,AC008649,CH471126,AW137524,BX345201,CR590852,CR597185,CR599547,U66464 NP_001036065,NP_009112,EAW56799,EAW56800,EAW56801,EAW56802,AAB97983,Q92918,AAI48360,AAI52995 Hs.95424 GDB:9957056 HPK1 protein-coding 1317839 MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. 1580863 11784851,7477268,7515885,8643544,17192257,12477932,9712898,9253601,1740341,1570017 5871 NM_004579,AP001462,CH471076,BC039839,BC047865,BM458161,CR593128,CR609548,CR619340,U07349 NP_004570,EAW74299,EAW74300,EAW74301,EAW74302,AAH47865,AAA20968,Q12851,Q86VU3 Hs.534341 GDB:6540061 BL44|GCK|RAB8IP protein-coding 732595 MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 This gene encodes a member of the Ste20 family of serine/threonine protein kinases. The protein belongs to the subfamily that consists of members, such as germinal center kinase (GCK), that are characterized by an N-terminal catalytic domain and C-terminal regulatory domain. The kinase activity of the encoded protein can be stimulated by UV radiation and tumor necrosis factor-alpha. The protein specifically activates the c-Jun N-terminal kinase (JNK) signaling pathway. Evidence suggests that it functions upstream of mitogen-activated protein kinase kinase kinase 1 (MEKK1). This gene previously was referred to as RAB8-interacting protein-like 1 (RAB8IPL1), but it has been renamed mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3). 1580863 9275185,14702039,12477932,12127567,11384986,9847074 8491 NM_003618,AC007684,AC079615,AF445413,CH471053,AK021553,AK291467,BC060880,BC071579 NP_003609,AAF19240,AAY14734,AAN75849,AAN75850,EAX00346,EAX00347,BAF84156,AAH71579,Q53RV1,Q6IQ39,Q8IVH8 Hs.655750 GDB:9955269 GLK|MAPKKKK3|RAB8IPL1 protein-coding 1313282 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 9890973,17227768,17192257,16537454,15345747,15302935,14966141,14702039,12612079,12477932,12387898,12185077,11967148,11369779,11002417,10807933,10805734,10669731,9734811,9135144,14578343 9448 NM_145687,NM_004834,AC005035,AC007005,CH471127,AB013385,AB014587,AF096300,AK000380,AK001272,AK025610,AK074592,NM_145686,AK074900,AK130085,AL137755,AY212247,AY834276,BC010909,BC040077,BC045694,BC064691,BC065036,BU595561,CR606880 NP_663719,NP_663720,NP_004825,AAY14969,AAY14970,AAY24319,EAX01805,EAX01806,EAX01807,EAX01808,EAX01809,EAX01810,BAA33714,BAA31662,AAD16137,BAA91127,CAB70907,AAO32626,AAV97884,O95819,Q53TW0,Q53TX7,Q53TX8,Q5MD60,Q9NX89,AAI56090,AAI56888 Hs.431550 GDB:9956735 FLH21957|FLJ10410|FLJ20373|FLJ90111|HGK|KIAA0687|NIK protein-coding 1346481 MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. 1580863 9038372,9788432,17192257,16699725,15489334,14702039,12591926,12477932,10648385,10490605,10477597,9949177,8274451,16189514 11183 NM_198794,NM_006575,AL118556,CH471078,AK124738,BC013159,BC036013,CB959746,CB990293,CR618486,U77129,Z25426 NP_942089,NP_006566,EAW65710,EAW65711,EAW65712,EAW65713,AAH36013,AAB48435,CAA80913,Q15448,Q9Y4K4,ABM85112 Hs.130491 GDB:5987190 GCKR|KHS|KHS1|MAPKKKK5 protein-coding 1606581 MAP6 microtubule-associated protein 6 This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. 16624526,14702039,14692697,14567673,12477932,12231625,11347906,11279055,10516426,9501006,8700896 4135 NM_033063,NM_207577,AP001922,AB058781,AK054873,AK096511,AK123340,BC041411,BC063860,BC139780,BC150254 NP_149052,NP_997460,BAB47507,BAC85586,AAH63860,AAI39781,AAI50255,Q6P3T0,Q6ZWB8,Q96JE9 Hs.585540 GDB:9835127 FLJ41346|KIAA1878|MTAP6|N-STOP|STOP protein-coding 1602463 MAP6D1 MAP6 domain containing 1 Mammalian Map6d1 is a neuronal protein that binds calmodulin, displays microtubule binding and stabilizing activities, and localizes to Golgi material in neurites where it may play a role in synaptic function (Gory-Faure et al., 2006 [PubMed 16837464]).[supplied by OMIM] 16837464,15489334,14702039,12477932 79929 NM_024871,AC131160,CH471052,AK022810,BC006434 NP_079147,EAW78313,EAW78314,BAB14254,AAH06434,Q9H9H5 Hs.478465 FLJ12748|MAPO6D1|SL21 protein-coding 1318886 MAP7 microtubule-associated protein 7 The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. 1580863 12477932,11719555,9989799,7490279,8408219,17081983,16964243,16565220,15489334,15218243,14574404,14517216,12845596,12755995 9053 NM_003980,AL023284,AL024508,AL133511,CH471051,AJ242501,AJ242502,AJ420541,BC025777,BF792432,CB162980,CD557798,X73882 NP_003971,CAI20475,CAD92557,EAW47944,EAW47945,EAW47946,EAW47947,CAB88030,CAB88031,AAH25777,CAA52086,Q14244,ABM81872,ABM87811 Hs.486548 GDB:9954815 E-MAP-115|EMAP115 protein-coding 1603999 MAP7D1 MAP7 domain containing 1 14702039,12477932,10574461,9921901,9110174,8619474 55700 NM_018067,AC114484,CH471059,AB033013,AF064852,AF218002,AK001212,AK095939,AK096341,AL136547,AY007099,BC003083,BC015885,BC027334,BC057293,BC067256,BC082266,BC106053,BC111428,BC128042,CR457254 NP_060537,EAX07381,EAX07382,EAX07383,EAX07384,BAA86501,AAG17244,BAA91557,BAC04654,CAB66482,AAH27334,AAH67256,AAI06054,AAI28043,CAG33535,Q3KQU3,Q6NX58 Hs.700595 FLJ10350|FLJ39022|MGC117315|PARCC1|RPRC1 protein-coding 1605254 MAP7D2 MAP7 domain containing 2 14702039,12477932 256714 NM_152780,AL732366,AK027409,AK098768,AK127056,BC037165,BC052256,BC089400,CH471074 NP_689993,CAI40547,EAW98971,BAB55093,BAC05407,AAH37165,AAH89400,Q5JPS9,Q96T17,CAI40549 Hs.127951 FLJ14503|MGC104944|RP11-393H10.2 protein-coding 1606231 MAP7D3 MAP7 domain containing 3 14702039,12477932 79649 NM_024597,AL078638,CH471150,AK022463,AK022711,AL832120,AL832475,BC040518,BC064350,DB454674 NP_078873,CAI41063,CAI41064,CAM21578,EAW88475,BAB14044,BAB14195,AAH40518,AAH64350,Q8IWC1,Q9HA16 Hs.446275 FLJ12401|FLJ12649|RP11-535K18.3 protein-coding 1605620 MAP9 microtubule-associated protein 9 ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM] 17925329,16049101,15815621,14702039,12477932,8889548 79884 NM_001039580,AC097467,CH471056,AK024730,AK024812,AY690636,BC022852,BC056683,BC128540,BC128541,CF144347,CR749274 NP_001034669,AAY40981,EAX04898,EAX04899,EAX04900,BAB14978,BAB15017,AAW02921,AAH22852,AAH56683,AAI28541,AAI28542,CAH18129,Q05CN5,Q49MG5,Q6PH77 Hs.61271 ASAP|FLJ21159 protein-coding 1606308 MAPBPIP mitogen-activated protein-binding protein-interacting protein 16710414,15489334,12477932,11266467,11042152 28956 NM_014017,AL355388,CH471121,AF070659,BC024190 NP_054736,CAH72635,CAH72636,CAH72637,EAW53004,AAD20965,AAH24190,Q9Y2Q5,ABM83891,ABM87211 Hs.632483 HSPC003|RP11-336K24.9|p14 protein-coding 732502 MAPK1 mitogen-activated protein kinase 1 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. 1582284,1580863,1582283,1582282,1582281,1357969,1302576,1626216 10706854,9632734,16286470,16291755,16626623,11520933,10958679,10051431,10066798,10878576,9687510,16456541,17322878,18328346,18327407,18292183,18280112,18271757,18263590,18245228,18245089,18212269,18187448,18171912,18165705,18164958,18087676,18086662,18083711,17531530,17526808,17525735,17522999,17519976,17513610,17512500,17510316,17504381,17502994,17496918,17486076,17469127,17464174,17458890,17443665,17427197,17410437,17406055,17397260,17388789,17382881,17351113,17341442,17317777,17317670,17303384,17303382,17297454,17295209,17294242,17284251,17267664,17237147,17215072,17212589,17192257,17149612,17142261,17131384,17128418,17105191,17081983,17068343,17068339,17038630,17035635,17026958,17016429,17543571,15897893,15890751,15882975,15880942,15861134,15851480,15851026,15814736,15809051,15782123,15778391,15778365,15923189,15777705,15757891,15746430,15739119,15735702,15728359,15728253,15721486,15721302,15713638,15671028,15664191,15655348,15654082,15653554,15632084,15632082,15616583,15616014,15610077,15595556,15592455,15588985,15563472,15557324,15545519,15544353,15542825,15542607,15529758,15489336,15489334,15485655,15379552,15358203,15358166,15356145,15355986,15347670,15322023,15292252,15292226,15253667,15249224,15247297,15247230,17015027,16373414,16368546,16332685,16321971,16288922,16287813,16283431,16280323,16278684,16278291,16273204,16253958,16242327,16242072,16239230,16209712,16198352,16198290,16156666,16153436,16149052,16148006,16131083,16094384,16081426,16051177,16047735,16045329,16027724,15985432,15967991,15967790,15952796,15951569,15928662,15928037,18079197,18079194,18065201,18063683,18055485,18036343,18034864,18026817,18006496,18003605,17991734,17974561,17942397,17938255,17932312,17921324,17884340,17883418,17881458,17879163,17825787,17728396,17701086,17697861,17695723,17693641,17689925,17686614,17667937,17662006,17658605,17652083,17652082,17646929,17631144,17624368,17623675,17620336,17615382,17602748,17583675,17582224,17581316,17581212,17577579,17575262,17550972,16998804,16995340,16980607,16954218,16941494,16926156,16912315,16897432,16865246,16848763,16820947,16820791,16814421,16813525,16796978,16794828,16786433,16763222,16753021,16735500,16723503,16705745,16687572,16670094,16644735,16635502,16624816,16617096,16611738,16581800,16574793,16569214,16556602,16538383,16492667,16414009,16406609,16395709,15243131,15241487,15225643,15210734,15187168,15184391,15173174,15173068,15155723,15143154,15128788,15128760,15116093,15087455,15081531,15078890,15069082,15068691,15064239,15059773,15041276,15040022,15037631,15033452,15033443,15031289,15030407,15021912,15016620,14997206,14985328,14970219,14970210,14960303,14766231,14764702,14762791,14744867,14742298,14729955,14715628,14714552,14711824,14702039,14701866,14694183,14691575,14676843,14676217,14676207,14672918,14671106,14655753,14654779,14636891,14636584,14634064,14622970,14620918,14602725,14592976,14587029,14575703,14570886,14551213,14551204,14532121,14511403,14500714,12975377,12972619,11891214,11884401,11883936,11878930,11876253,11867630,11866540,11866440,11861509,11840343,11840291,11823456,11805112,11805108,11788583,11786537,11781324,11776327,11773377,11756441,11748628,11744690,11741894,11741541,11702783,11606045,11583024,11581251,11579140,11549292,11493009,11489891,11481231,11416124,11409876,11409852,11408587,11352917,11350938,11350735,11279280,11278799,11278335,11266467,11260070,11226259,11226163,11205744,11181841,11134045,11114188,11044099,11013076,10996427,10993892,10982368,10942774,10915800,10910078,10866661,10799874,10780709,10779345,12972603,12963735,12960100,12957654,12947325,12947314,12943720,12937895,12937136,12917419,12894225,12883725,12871860,12840032,12837293,12832467,12832284,12826588,12821662,12810719,12801888,12794156,12794087,12794004,12792650,12774925,12763138,12759139,12754301,12727980,12697810,12690113,12690112,12682854,12676937,12665801,12665513,12665511,12663671,12643788,12637525,12637502,12637339,12624094,12618431,12618428,12611773,12606501,12603851,12594221,12592382,12592337,12576423,12576315,12562867,12556561,12556484,12555071,12540563,12540369,12538595,12538349,12536241,12531514,12351702,12239215,12226093,12220502,12218048,12206715,12200131,12183542,12177807,12175859,12167619,12161424,12151396,12151316,12149432,12149431,12149268,12140374,12121974,12105188,12095152,12095140,12093745,12091386,12082107,12082091,12081893,12081892,12079429,12077112,12076252,12058028,12054624,12050114,12048211,12039864,12038794,12032872,12030372,12006497,11994045,11971971,11961297,11960991,11952164,11943771,11937531,11930938,11923300,11914583,11904305,11896055,12529294,12508271,12505790,12491158,12482669,12478298,12477932,12473660,12464620,12460991,12456688,12450322,12446729,12444202,12441075,12438317,12435397,12419216,12408764,12393542,12391149,12388423,12387894,12379481,12362243,12356755,12356731,9155017,9092573,9030579,9029147,9013873,8994038,8960373,8939914,8900182,8816480,8806671,8794306,8639570,8631994,8626571,8626561,8618896,8607977,8586671,8552640,8506364,8407983,8389479,8386592,8384717,10757792,10737616,10733581,10706702,10702794,10692442,10660621,10635328,10627507,10617468,10567572,10521505,10509564,10490027,10446219,10419510,10405182,10347142,10330152,10230405,10224087,10206983,10197981,10194762,10187842,10074203,9915826,9872331,9857190,9832145,9792705,9788880,9771888,9725910,9649500,9628874,9621077,9604935,9592082,9565682,9558095,9535927,9535909,9535905,9528769,9440696,9430688,9405468,9388255,9343414,9335504,9325171,9223324,9211903,9199504,9199329,10762698,8290275,8248197,8221888,8208531,8157000,8083223,7876160,7816602,7777512,7768935,7569900,7566346,7535768,2032290,1712480,1648701,1540184,1378617,1330687,1319925,15603708,9045910,17158886,16621960,12775419,12239168,12089333,10581001,10027715,15689238,12714584,9564043,17182689,15343382,15459189,15371627,11532249,11504923,9658081,9403476,10388555,16741963,16436505,16395283,12354773,11726657,9453574,12734410,11958689,11153078,10748182,16920714,12897141,15094067,15210690,10318905,8666891,15269220,10969079 1582284,1582283,1582282,1582281,1357969,1302576,1626216 5594 NM_002745,NM_138957,AP000553,AP000554,AP000555,CH471095,DQ508104,AI004470,AK055080,AK057143,AK090869,BC017832,BC099905,CR621660,DQ399292,EF565108,Z11694,Z11695 NP_002736,NP_620407,EAW59479,EAW59480,EAW59481,EAW59482,ABF47102,AAH17832,AAH99905,ABD60303,CAA77752,CAA77753,P28482,Q1HBJ4,Q499G7,ABW03774 Hs.431850 GDB:135677 ERK|ERK2|ERT1|MAPK2|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk mitogen activated protein kinase 1 protein-coding 733441 MAPK10 mitogen-activated protein kinase 10 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This protein is a neuronal-specific form of c-Jun N-terminal kinases (JNKs). Through its phosphorylation and nuclear localization, this kinase plays regulatory roles in the signaling pathways during neuronal apoptosis. Beta-arrestin 2, a receptor-regulated MAP kinase scaffold protein, is found to interact with, and stimulate the phosphorylation of this kinase by MAP kinase kinase 4 (MKK4). Cyclin-dependent kianse 5 can phosphorylate, and inhibit the activity of this kinase, which may be important in preventing neuronal apoptosis. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863,1300048 16249883,16169070,15693750,15489334,14702039,12818176,12477932,12436199,12189133,12167088,11823425,11718727,11359773,11356842,11322657,11259409,11231586,11185509,11090355,10715136,10629060,10523642,10471813,9847074,9739089,9393873,9373149,9349820,8125298,1922387,15603708,9045910,16481105,12960231,12857973,12239168,11698270,11468147,12714584,15246824,12775419,12089333,8654373,7826642,17680991,16737965,16611996,11504923,9403476,16007099 5602 NM_002753,NM_138980,NM_138982,NM_138981,AC096953,AC104059,AC104827,AC108054,CH471057,AK022161,AK057723,AK091104,AK124791,AK225974,BC022492,BC035057,BC051731,BC065516,BI549234,U07620,U34819,U34820 NP_002744,NP_620446,NP_620448,NP_620447,EAX05962,EAX05963,AAH35057,AAH51731,AAH65516,AAC50101,AAC50604,AAC50605,P53779,Q499Y8 Hs.125503 GDB:9668424 FLJ12099|FLJ33785|JNK3|JNK3A|MGC50974|PRKM10|p493F12|p54bSAPK mitogen activated protein kinase 10 protein-coding 1319634 MAPK11 mitogen-activated protein kinase 11 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. This kinase is most closely related to p38 MAP kinase, both of which can be activated by proinflammatory cytokines and environmental stress. This kinase is activated through its phosphorylation by MAP kinase kinases (MKKs), preferably by MKK6. Transcription factor ATF2/CREB2 has been shown to be a substrate of this kinase. 1580863 8663524,17254968,8846784,9687510,11520933,16643845,15728454,15708845,15489334,15461802,15356147,15326477,15304344,15304097,15273249,15249224,15048855,14724572,14688370,14680475,14651992,14557269,14522966,12586546,12510156,12477932,12384504,12171600,12060661,11847341,11579095,11495898,11359773,10820433,10591208,9628874,9430721,9235954,9218798,9207191,12239168,16189514,14734562 5600 NM_002751,AL022328,CH471138,DQ279722,EU332851,AF001008,AF001174,AF031135,AK291845,BC027933,BM857051,BX361670,CR456514,CR592517,CR600695,CR605909,CR615085,CR624704,U53442,U92268,Y14440 NP_002742,EAW73524,EAW73525,EAW73526,ABB72677,ABY87540,AAC51250,AAC51373,AAC12714,BAF84534,AAH27933,CAG30400,AAB05036,AAB66313,CAA74792,Q15759,CAK54545,CAK54844,ABM82654,ABM85831 Hs.57732 GDB:9836448 P38B|P38BETA2|PRKM11|SAPK2|SAPK2B|p38-2|p38Beta protein-coding 731716 MAPK12 mitogen-activated protein kinase 12 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. 1580863,1300048 10848581,10508788,15158451,8633070,11520933,9297626,11991731,17724032,17088247,15489334,15461802,15342622,15284239,14702039,14592936,12915405,12536241,12477932,12171600,12167088,11741894,11062068,11062067,10591208,10567720,10212242,9628874,9199504,9169156,9019171,8920915,12239168,9564043,16189514,17081983 6300 CR603767,CR604558,CR614110,CR617313,CR620424,U66243,X79483,Y10487,AL022328,CH471138,AK098058,AK123665,AK289770,BC015741,BX640648,CR456515,CR591936,CR595847,CR597471,CR597558,CR600878,CR601459,CR603106,NM_002969 AAB40118,CAA55984,CAA71511,P53778,Q6IC53,Q6N076,CAK54845,CAK54546,ABM83713,ABM87033,NP_002960,EAW73521,EAW73522,BAF82459,AAH15741,CAE45794,CAG30401 Hs.432642 GDB:9787436 ERK3|ERK6|P38GAMMA|PRKM12|SAPK-3|SAPK3 protein-coding 737240 MAPK13 mitogen-activated protein kinase 13 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is closely related to p38 MAP kinase, both of which can be activated by proinflammatory cytokines and cellular stress. MAP kinase kinases 3, and 6 can phosphorylate and activate this kinase. Transcription factor ATF2, and microtubule dynamics regulator stathmin have been shown to be the substrates of this kinase. 1580863,1300048 10727080,10201954,10066767,9218798,12244047,11520933,16644870,15489334,15340077,15231748,14574404,12810719,12482858,12477932,12171600,12080077,9841871,9731215,9628874,9374491,9373149,9295308,9207191,8125298,12239168,16189514,11500363 5603 NM_002754,CH471081,Z95152,AB209586,AF004709,AF015256,AF092535,AF100546,AK222922,BC000433,BC001641,BC004428,BC085196,BM921729,BT007221,CR536490,CR541687,CR595896,CR603684,U93232,Y10488 NP_002745,EAX03874,EAX03875,EAX03876,CAB08438,CAI19689,CAI19690,BAD92823,AAC51374,AAC51758,AAD23377,AAF36772,BAD96642,AAH00433,AAH01641,AAH04428,AAH85196,AAP35885,CAG38729,CAG46488,AAB87639,CAA71512,O15264,Q53GK9,Q59F75,Q5R3E4,Q5R3E6,Q5U4A5,Q6FHR4,Q6FI46,ABM82298,ABM85477 Hs.178695 GDB:9836449 MGC99536|PRKM13|SAPK4|p38delta mitogen activated protein kinase 13 protein-coding 619564 MAPK14 mitogen-activated protein kinase 14 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1302548,1580863,1300048,1302590,1302580,1580544 10706854,7997261,9792677,12761180,16189514,16636664,16751104,8846784,9687510,11520933,10912793,10838079,18460190,18451303,18401529,18389508,18296636,18252806,18247374,18246004,18223258,18211888,18177491,18095520,18089732,18087676,18086809,18065201,18059487,18055026,18054783,18047584,18036649,18028450,18022596,17996717,17991740,17982102,17979814,17929017,17928890,17927969,17921324,17893873,17888403,17727817,17724032,17720811,17719653,17698513,17689131,17675521,17652082,17628663,17624368,17616668,17613714,17612563,17611702,17604950,17601799,17599408,17597823,17585337,17584736,17583675,17570131,17548358,17548351,17543571,17531530,17524358,17519236,17468755,17464174,17453826,17446930,17443309,17442041,17438131,17406030,17373649,17347580,17341442,17334397,17332506,17316568,17307333,17303384,17303382,17303142,17284589,17277157,17255949,17255097,17244678,17241234,17234706,17219054,17207971,17202865,17196171,17192257,17188240,17142767,17141198,17126905,17107667,17088247,17085432,17081983,17059827,17055984,17054722,17050539,17035228,17030510,17030506,17028194,17012370,17000004,16973972,16964394,16951426,16935849,16927023,16924420,16924234,16912047,16899715,16869889,16864945,16861915,16843435,16820791,16814421,16790501,16769768,16720051,16709866,16699726,16699462,16697418,16683917,16648633,16648477,16645187,16627995,16613612,16581800,16554354,16538384,16532349,16516911,16478922,16469115,16467496,16446363,16410316,16410245,16380078,16351573,16344056,16342939,16338464,16308312,16278378,16257181,16256948,16256071,16251188,16242072,16214108,16197369,16164755,16153436,16153249,16139274,16138080,16135815,16133687,16123320,16099944,16098034,16027724,16027723,16014723,15964514,15950779,15946948,15919053,15917247,15901830,15894558,15862947,15851480,15849811,15845648,15843433,15833736,15817653,15797859,15791651,15790570,15784503,15778365,15755725,15753227,15737736,15737629,15728454,15708845,15677464,15668322,15665518,15650392,15634764,15632082,15629715,15625302,15592496,15592455,15578697,15569672,15567067,15550393,15542843,15541600,15527495,15516490,15514847,15489375,15489334,15388348,15383283,15375157,15345584,15322009,15319438,15315972,15310753,15304486,15304097,15292225,15292176,15284239,15273249,15257094,15256218,15246972,15245437,15232685,15170913,15133024,15132952,14989597,14970175,14715645,14714552,14648593,14592977,14586399,14578350,14574404,14552880,14512875,13679851,12933809,12897141,12882963,12855667,12810082,12784337,12702497,12698197,12697810,12684028,12665801,12665511,12663671,12654092,12631076,12606502,12595530,12589052,12581156,12519482,12509443,12505871,12478662,12477932,12473116,12429732,12403788,12391307,12384504,12370831,12324467,12296996,12232043,12225289,12200131,12183063,12171600,12170268,12164931,12138194,12126643,12110590,12105188,12085235,12071847,12067303,12051955,12009331,11997522,11994493,11994045,11896401,11866441,11852102,11848686,11847341,11792706,11788789,11788583,11781324,11777913,11773065,11756422,11741533,11691836,11604491,11602244,11551945,11551930,11495898,11489891,11416124,11390380,11387337,11377386,11359773,11346645,11344273,11333986,11259586,11226159,11157753,11042694,11042204,10980603,10978317,10961885,10943842,10942774,10910078,10884347,10857861,10849446,10806207,10805738,10779345,10747897,10727080,10644717,10597297,10581258,10559944,10557092,10415025,10391943,10364159,10348343,10330143,10206983,10085140,9889198,9878398,9858528,9788880,9768359,9753748,9753691,9628874,9554853,9465032,9405468,9295308,9278512,9211903,9155018,9130707,9095200,9092573,9069290,8917518,8910361,8798479,8695800,8650547,8626699,8622669,8548291,8530093,8274451,8083223,7923354,7914033,7839144,7750576,7716521,7696354,7592979,7535770,7493921,7479834,1088347,15642743,15603708,16111829,16897667,17158886,17182689,12775419,12089333,16841089,16081599,15972662,14660488,12239168,11698270,11468147,12824191,15717263,12819782,14563843,12963847,9707433,15692053,9235954,12829618 1302548,1302590,1302580,1580544 1432 CR598726,CR612713,L35263,L35264,Z25432,NM_139012,NM_139014,NM_001315,NM_139013,CH471081,U19775,AB074150,AF100544,AK291709,BC000092,BC031574,BT006933,CR536505 AAA57455,AAA57456,CAA80919,Q15454,Q16539,CAG38743,NP_620581,NP_620583,NP_001306,NP_620582,EAX03867,EAX03868,EAX03869,EAX03870,EAX03871,EAX03872,EAX03873,AAC50329,BAB85654,AAF36770,BAF84398,AAH00092,AAH31574,AAP35579 Hs.485233,Hs.588289 GDB:439049 CSBP1|CSBP2|CSPB1|EXIP|Mxi2|PRKM14|PRKM15|RK|SAPK2A|p38|p38ALPHA protein-coding 1604966 MAPK15 mitogen-activated protein kinase 15 11875070,16624805,16484222,16336213,15489334,15342556,12477932,12239168,9880541 225689 NM_139021,AY065978,AY994058,BC028034,BP357805,AC105219,CH471162 EAW82204,EAW82205,AAL40897,AAY44299,AAH28034,Q8TD08,ABM82399,ABM85587,NP_620590,EAW82203 Hs.493169 ERK7|ERK8 protein-coding 1322925 MAPK1IP1L mitogen-activated protein kinase 1 interacting protein 1-like 17081983,16189514,15489334,14702039,12508121,12477932,12011110,8619474 93487 NM_144578,AL139316,CH471061,AK025580,AK054650,AL834285,BC015621,CR595805,CR600100,CR605386,CR610161,CR623367,U90909 NP_653179,EAW80656,EAW80657,CAD38959,AAH15621,Q8NDC0 Hs.594338 C14orf32|MGC23138|MISS|c14_5346 protein-coding 619570 MAPK3 mitogen-activated protein kinase 3 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. 1580863,1357969,737801,1626216 11741541,7687743,9792677,15616583,16291755,16626623,11520933,7739560,9687510,16456541,17322878,18328346,18327407,18292183,18280112,18271757,18263590,18245228,18245089,18212269,18187448,18174382,18166657,18165705,18164958,18087676,18086662,18086557,18079197,18079194,18070930,18065201,18063683,18055485,18036343,18034864,18006496,17967787,17942397,17938255,17932312,17921324,17884340,17881458,17879163,17825787,17728396,17695723,17686614,17662006,17652082,17644078,17622743,17620336,17615382,17583675,17582224,17581212,17575262,17565009,17543571,17526808,17525735,17522999,17519976,17513610,17510316,17504381,17496918,17478078,17464174,17458890,17453826,17443665,17427197,17410437,17406055,17388789,17382881,17351113,17341442,17317670,17311928,17303384,17303382,17297454,17294242,17274723,14602725,14587029,14575703,14532121,14515181,12960100,12947325,12943720,12937136,12832467,12832284,12821662,12810719,12794156,12792650,12727216,12697810,12690112,12689928,12682854,12676937,12663671,12643788,12637525,12637339,12606501,12603851,12562867,12555071,12540563,12538595,12538349,12531514,12529294,12491158,12482669,12477932,12473660,12456688,12446729,12441075,12408764,12362243,14622970,17273789,17267664,17237423,17237147,17215072,17212589,17209045,17192257,17149612,17142261,17131384,17081983,17068343,17068339,17035635,17016429,16998804,16995340,16990258,16954218,16941494,16926156,16849642,16844778,16820791,16814421,16813525,16796978,16794828,16735500,16705745,16699726,16687572,16670094,16644735,16624816,16617096,16574793,16569214,16556602,16538383,16533948,16515552,16492667,16414009,16406609,16373414,16368546,16332685,16321971,16317051,16287813,16280323,16278684,16278291,16273281,16253958,16242072,16239230,16209712,16156742,16149052,16081426,16050810,16047735,15985432,15967991,15951569,15923189,15919053,15890751,15880942,15879168,15814736,15809051,15784503,15757891,15746430,15739119,15735702,15728253,15721302,15671028,15655348,15653554,15642734,15563472,16344560,15545519,15542825,15509801,15489334,15471881,15364926,15355986,15347670,15336571,15322023,15321994,15292176,15256218,15249224,15247297,15247230,15243131,15210734,15173068,15143154,15128760,15113754,15078890,15069082,15068691,15064239,15059773,15040022,15030407,15016620,14985328,14960303,14744867,14714552,14711824,14702039,14701866,14676217,14671106,14651992,14634064,11583024,11579140,11409918,11409852,11278799,11260070,11134045,11131153,11114188,11044099,10982368,10958792,10912793,10799874,10780709,10748187,10648599,10635328,10627507,10574913,10570282,10559944,10551817,10509564,10402467,10224087,10206983,10074203,9857190,9792705,9733512,9628824,9621077,9558095,9535927,9325171,12218048,12200131,12183542,12167619,12095152,12082091,12081892,12032872,12030372,11986622,11961297,11960991,11952164,11937531,11930938,11923300,11891214,11884401,11866540,11866440,11792123,11776327,11773377,11741977,11702783,11682603,9223324,9155018,8939914,8806671,8794306,8639570,8632909,8626767,8626571,8552640,8290275,8226933,8208531,8152805,7836374,7535768,1922387,1540184,1347949,1319925,15603708,16621960,17182689,12775419,12239168,12089333,10581001,10027715,15689238,9564043,15371627,11532249,11504923,9658081,9403476,16741963,16436505,16395283,16920714,12594221,15210690,10597297,12356731,12121974,11403955,11585926,15184391,12975377,15861134,15782123,9130707,9020136,15469820,12049732,10431817,9235954,15133517 1357969,737801,1626216 5595 NM_001109891,NM_001040056,NM_002746,AC012645,AJ222708,CH471238,EU332853,AK091009,AY033607,AY033608,BC000205,BC013992,BX537897,CR595737,CR596064,CR597147,CR600245,CR603463,CR606522,CR607536,CR620058,CR621455,CR621688,CR621977,DA351318,DQ399291,M84490,X60188,Z11696 NP_001103361,NP_001035145,NP_002737,EAW79912,EAW79913,EAW79914,EAW79915,EAW79916,EAW79917,ABY87542,AAK52329,AAK52330,AAH00205,AAH13992,CAD97888,ABD60302,AAA36142,CAA42744,CAA77754,P27361,Q7Z3H5,Q8NHX0,Q8NHX1,Q9BWJ1,ABM84366,ABM87777 Hs.861 GDB:135679 ERK1|HS44KDAP|HUMKER1A|MGC20180|P44ERK1|P44MAPK|PRKM3 protein-coding 736964 MAPK4 mitogen-activated protein kinase 4 Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus where it phosphorylates nuclear targets. 1580863 7969157,18235225,18070930,16973613,16360641,12477932,9069255,8607977,8290275,7601337,1319925,12239168 5596 NM_002747,AC012433,AC090395,AC090638,CH471096,AI088913,BC040493,BC050299,BC117216,X59727 NP_002738,EAW62976,EAW62977,AAH50299,AAI17217,CAA42411,P31152,Q0VG04 Hs.433728 GDB:135680 ERK3|Erk4|PRKM4|p63MAPK mitogen activated protein kinase 4 protein-coding 733646 MAPK6 mitogen-activated protein kinase 6 The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. 1580863 2032290,16964379,15489334,15226418,15172640,12915405,12808096,12477932,11741894,11148204,8875998,8626698,8621539,7969157,12239168,16189514 5597 CR749401,L77964,X80692,NM_002748,AC023906,AC090970,CH471082,AF420474,BC035492 AAH35492,CAH18246,AAA98769,CAA56709,Q16659,ABM82544,ABM85736,NP_002739,EAW77434,AAL17605 Hs.411847 GDB:438936 DKFZp686F03189|ERK3|HsT17250|PRKM6|p97MAPK protein-coding 1345876 MAPK6PS1 mitogen-activated protein kinase 6 pseudogene 1 12504858 317686 NG_002454,AC022034 Erk3ps1 pseudo 1342650 MAPK6PS2 mitogen-activated protein kinase 6 pseudogene 2 12504858 254664 NG_002448,AP000953 pseudo 1351416 MAPK6PS3 mitogen-activated protein kinase 6 pseudogene 3 12504858 317684 NG_002453,AL157932 pseudo 1347733 MAPK6PS4 mitogen-activated protein kinase 6 pseudogene 4 12504858 286065 NG_002451,AC026241,AC103773 Erk3ps4 pseudo 1348878 MAPK6PS5 mitogen-activated protein kinase 6 pseudogene 5 12504858 286156 NG_002452,AC021001 pseudo 1345501 MAPK6PS6 mitogen-activated protein kinase 6 pseudogene 6 12504858 282967 NG_002449,AC069546 pseudo 1345735 MAPK7 mitogen-activated protein kinase 7 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. 1580863 7646528,11739740,11544482,11278431,11254654,11139578,10849446,10781600,10531364,10473620,10072598,9858528,9790194,9753748,9535909,9535905,9461566,9384584,8631994,12239168,16189514,12659851,12628002,11948414,7759517,16626623,16456541,17322878,18280112,17998143,17692050,17624732,17452529,17342168,17272811,17148583,17131384,17052197,17018293,16950928,16941494,16835228,16735500,16316418,16166637,15994942,15716121,15692064,15608616,15548525,15075238,14718574,14679215,14583600,12637502,12477932,12091247,12048211,12042304 5598 NM_139033,NM_139032,NM_002749,NM_139034,AC124066,CH471212,U29727,AB209611,AY534741,BC007404,BC007992,BC009963,BC030134,CR592256,CR604533,U25278,U29725,U29726 NP_620602,NP_620601,NP_002740,NP_620603,EAW50883,EAW50884,EAW50885,EAW50886,EAW50887,AAA82933,BAD92848,AAS38577,AAH07404,AAH07992,AAH09963,AAH30134,AAA81381,AAA82931,AAA82932,Q13164,Q59F50,Q6QLU7,Q7L4P4,Q96G51 Hs.150136 GDB:681260 BMK1|ERK4|ERK5|PRKM7 protein-coding 732271 MAPK8 mitogen-activated protein kinase 8 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 1581694,1582310,1582313,1580863,1582325,1582316,1582317,1582311,1582329,1582315 8654373,10490659,11238452,15334056,14967141,14764673,10912793,8137421,9162092,17054907,17008315,16983342,16972261,16927023,16912864,16895791,16824735,16815888,16814421,16802349,16794185,16760468,16699726,16687404,16648634,16581800,16569638,16465391,16434970,16412424,16407310,16381010,16339571,16328781,16321971,16307741,16283431,16282329,16260609,16260419,16243842,16176806,16166642,16153436,16105650,16086581,16038800,15981086,15890690,15860507,15778501,15778365,15769735,15755722,15733859,15696159,15693750,15665513,15657352,15655348,15637062,15629131,15569856,15542843,15528994,15527495,15516492,15474087,15456887,15345747,15326485,15302935,15238629,15225643,15013949,14981905,14766760,14729602,14724588,14701702,14699155,14688370,14637155,14561739,14557276,14551213,12121974,12095152,12079429,12058028,12058026,12052834,12039864,12023963,11983683,11971973,11948398,11931768,11912216,11865055,11788583,11781324,11749722,11700324,11606564,11602244,11525649,11489891,11448159,11432831,11350938,11323415,11283254,11279197,11278799,11278789,11260070,11062067,11057897,11042694,10913135,10799874,10797012,10756100,14532003,14514687,14504284,14500675,12917434,12902351,12878610,12859962,12853963,12847227,12818176,12810082,12763138,12756254,12734330,12707267,12689591,12646564,12646240,12592382,12576423,12538493,12514174,12478662,12421945,12417588,12413764,12391307,12359245,12354774,12351702,12351658,12296995,12242293,12225289,12206715,12189133,12171600,12167088,12148599,12143039,12140754,12138158,12135322,12591950,18325654,18316603,18316600,18292600,18256527,18219313,18212053,18164704,18087676,18086557,18082745,18055217,18036196,18025271,17982228,17967471,17913539,17908987,17904874,17883418,17785464,17719653,17704768,17703233,17702750,17699782,17690186,17652454,17640761,17626013,17620321,17603935,17601799,17584736,17573344,17568996,17545598,17541429,17496921,17481915,17478078,17453826,17317777,17303384,17296730,17255354,17192257,17178870,17158878,17079291,17074809,9235954,9374537,10747973,10722755,10713157,10629060,10601313,10597297,10585392,10567572,10551811,10523642,10521505,10509564,10471813,10446219,10391943,9889198,9872331,9851932,9788880,9733513,9732264,9670954,9661668,9621077,9405416,9396779,9393873,9343414,9223324,9211903,9207092,9199329,9195981,9129988,9030579,8917518,8632909,8621542,8586671,8177321,7839144,7737130,7737129,7642542,1748630,15603708,16481105,12775419,12089333,12960231,12857973,12239168,11698270,11468147,12714584,9045910,15246824,11504923,9403476,17158886,16395283,14597672,10394361,15827086,11153078,14633987,15659383,16007099,9020136,12659851 1581694,1582310,1582313,1582325,1582316,1582317,1582311,1582329,1582315 5599 NM_002750,NM_139049,NM_139046,NM_139047,AC016397,CH471187,AK292523,AL137667,BC130570,BC130572,CR614448,DQ234352,L26318,U34822,U35004,U35005 Q308M2,NP_002741,NP_620637,NP_620634,NP_620635,EAW93129,EAW93130,EAW93131,EAW93132,EAW93133,EAW93134,EAW93135,EAW93136,EAW93137,EAW93138,BAF85212,AAI30571,AAI30573,ABB29981,AAA36131,AAC50607,AAC50610,AAC50611,P45983 Hs.138211 GDB:9246350 JNK|JNK1|JNK1A2|JNK21B1/2|PRKM8|SAPK1 protein-coding 733615 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 The protein encoded by this gene is a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. 633194,1580863 12756254,12740599,12665528,12563035,12524447,12477932,12194869,12064607,12024021,11912189,11790792,11724784,11700324,11585908,11517249,11147798,10827173,10748095,10700186,10629060,10490659,9733513,9442013,9235893,9110174,8619474,11238452,11726277,9933567,10574993,17200414,16301330,15998799,15911620,15894166,15868948,15138488,14507925,12937412,12917434,12893827,12783873 633194 9479 NM_005456,AC068385,CH471064,AB209720,AF007134,AF074091,BC035920,BC068470,BI548334,CR605837 NP_005447,EAW68027,EAW68028,BAD92957,AAC19150,AAD20443,AAH68470,Q59EU1,Q6NUQ9,Q9UQF2 Hs.234249 GDB:11500638 IB1|JIP-1|JIP1|PRKM8IP protein-coding 1320222 MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. 1580863 10490659,12023290,12244047,10756100,16456539,15489334,12529303,12524447,12477932,12024021,11378392,10827173,10629060,10591208,9110174,8889548,8619474 23542 NM_012324,NM_016431,CH471138,U62317,AF136382,AF218778,AL021708,BC009940,BC037271,BC047527,BU732443,U79261 NP_036456,NP_057515,EAW73577,EAW73578,EAW73579,EAW73580,AAB03340,AAF00980,AAF32323,CAA16714,AAH09940,AAH47527,AAB50207,Q13387,Q86VW5 Hs.558180 GDB:10795871 IB2|JIP2|PRKM8IPL protein-coding 1347522 MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. 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. 1580863 15302935,15146197,14702039,12477932,12189133,11738026,11274738,11214971,11157797,11044439,10629060,10523642,10470851,12226752,11106729,16368877,16341674,16141199,15911620,15616553,15532711 23162 NM_001040439,AC012180,AE006639,AL031710,AL031717,AL031718,CH471112,NM_015133,AB028989,AI291346,AK024437,BC087861,BC137123,BC137124,BC150266,BM791368,BQ083050,BQ231003,BQ961808,CD557812,CN361410,CN405914,CN405915,CR624644,CR749696,BY795428,CA776361 NP_055948,NP_001035529,AAK61290,CAB72318,EAW85630,EAW85631,EAW85632,EAW85633,BAA83018,BAB15727,AAI37124,AAI37125,AAI50267,CAH18476,Q68CV8,Q9UPT6 Hs.207763 GDB:11500970 DKFZp762N1113|FLJ00027|JIP3|JSAP1|KIAA1066|SYD2 protein-coding 1351126 MAPK8IPP mitogen-activated protein kinase 8 interacting protein, pseudogene 9933567 10364 GDB:9956468 736023 MAPK9 mitogen-activated protein kinase 9 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863,1582314,1300048,1302568 12538493,12477932,12417588,12225289,12189133,12171600,12167088,12110590,12023963,11959861,11948398,11602244,11566021,11527157,11359773,11278789,11278395,11172026,11062067,11057897,11042694,11024282,10811224,10797012,10669748,10629060,10523642,12743126,10490605,10471813,10381549,9732264,9628874,9405416,9393873,9374467,9130707,8945519,8649858,8626452,8548291,8001819,7737129,1602151,602896,15603708,9045910,16481105,12960231,12857973,12239168,11698270,11468147,12714584,15246824,8654373,15158451,7969172,17908987,17785791,17637567,17397142,17296730,17192257,17074809,16552729,16412424,16381010,16189514,16169070,15911620,15860507,15778501,15693750,15655348,15637069,15527495,15489334,15474087,15326485,15262983,14724588,14504284,12818176,12788955,12775419,12089333,11504923,9403476,11504717,9155018 1582314,1302568 5601 NM_002752,NM_139069,NM_139070,AC008610,AC104115,CH471165,DQ066599,AK289638,BC032539,BQ025589,CR536580,CR619061,L31951,U09759,U34821,NM_139068,U35002,U35003 NP_620707,NP_002743,NP_620708,NP_620709,EAW53757,EAW53758,EAW53759,EAW53760,EAW53761,EAW53762,EAW53763,EAW53764,EAW53765,AAY46156,BAF82327,AAH32539,CAG38817,AAA56831,AAA74740,AAC50606,AAC50608,AAC50609,P45984,ABM84639,ABW03645 Hs.654461 GDB:9265304 JNK-55|JNK2|JNK2A|JNK2ALPHA|JNK2B|JNK2BETA|PRKM9|SAPK|p54a|p54aSAPK stress activated protein kinase alpha ii protein-coding 1313344 MAPKAP1 mitogen-activated protein kinase associated protein 1 This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. 1580863 1849280,15718470,18316587,17303383,17081983,17054722,17043309,16962653,16919458,16189514,16000324,15988011,15722200,15489334,15363842,15324660,12477932,15778465 79109 NM_001006621,NM_001006620,NM_024117,NM_001006619,NM_001006618,AL162584,AL358074,AL359632,CH471090,AK290060,AL833042,AY425957,AY524429,AY524430,AY524431,NM_001006617,AY524432,AY633624,AY633625,AY633626,BC002326,BC003044,BC035236,BX438260,M37191 NP_001006622,NP_001006621,NP_077022,NP_001006620,NP_001006618,NP_001006619,CAI39500,CAI39501,CAI39502,CAI39503,CAI39505,CAI39506,CAI39507,CAI39508,CAI39887,CAI39888,CAI39889,CAI39890,CAI39891,CAI39892,EAW87630,EAW87631,EAW87632,EAW87633,BAF82749,CAH56311,AAR07950,AAS90839,AAS90840,AAS90841,AAS90842,AAT46478,AAT46479,AAT46480,AAH02326,AAH03044,AAA36551,Q5JSV7,Q5JSV8,Q5JU34,Q5JU39,Q6TAR2,Q9BPZ7,ABM83654,ABW03519 Hs.495138 GDB:11510166 JC310|MGC2745|MIP1|SIN1|SIN1b|SIN1g protein-coding 1606829 MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2 This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. 15692053,15629715,15489334,15287722,15271996,15094067,14688255,14499342,12861023,12829704,12791252,12751751,12582162,12477932,12456657,12377770,12171911,12171600,12147348,11844797,11551945,11448140,11359875,11042204,10781029,10779545,10753652,10559880,10318869,9768359,9759836,9628873,8995385,8995217,8887554,8617238,8413226,7923354,7905823,7901013,7799959,7592979,6150037,1332886,9687510,15688025,16278218,17292828,8280084,8179591,11520933,9297626,8846784,18326031,17481585,17255097,16861915,16774924,16424170,16407830 9261 NM_004759,NM_032960,AL591846,CH471100,BC036060,BC052584,CR595495,X75346 NP_004750,NP_116584,CAI13543,CAI13544,EAW93525,EAW93526,EAW93527,EAW93528,EAW93529,EAW93530,EAW93531,EAW93532,AAH36060,AAH52584,CAA53094,P49137,Q5SY30,Q5SY41 Hs.643566,Hs.706764 GDB:9955562 MK2 protein-coding 1312732 MAPKAPK3 mitogen-activated protein kinase-activated protein kinase 3 This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. 1580863 10781029,11520933,9297626,8626550,8846784,15563468,15489334,15302577,12477932,12171600,11975836,11157753,9207191,8943323,8774846,8622688,8603390,16189514 7867 NM_004635,AC096920,CH471055,AK290969,BC001662,BC007591,BC010407,BC068497,CR606251,U09578,U43784 NP_004626,EAW65131,EAW65132,EAW65133,BAF83658,AAH01662,AAH07591,AAH10407,AAD09136,AAC50428,Q16644 Hs.234521 GDB:6175915 3PK|MAPKAP3 protein-coding 1354160 MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5 The protein encoded by this gene is a member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. In vitro, this kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. 9628874,17254968,15489334,14702039,12808055,12477932,12171600,12130507,12117915,10978317,10708586,9480836,9468497,8636128 8550 NM_139078,NM_003668,AC003029,AF032437,CH471054,AK122767,AL110301,AW780199,BC000833,BC041049,BC047284,CR618097 NP_620777,NP_003659,AAC39863,EAW97979,EAW97980,EAW97981,CAB53747,AAH00833,AAH41049,AAH47284,Q8IW41 Hs.413901 GDB:9955605 PRAK protein-coding 1604640 MAPKBP1 mitogen-activated protein kinase binding protein 1 16713569,15491607,14702039,12477932,10471813,9628581 23005 AK091616,AK292414,AL833267,BC036660,BC113983,BC114493,BX640787,BX648786,CR609233,NM_014994,AC020659,AC073657,CH471125,AB011168,AB177850 BAF85103,AAH36660,AAI13984,AAI14494,O60336,NP_055809,EAW92514,EAW92515,EAW92516,EAW92517,EAW92518,EAW92519,BAA25522,BAD66828 Hs.709333 MGC138851|MGC138852 protein-coding 1353139 MAPRE1 microtubule-associated protein, RP/EB family, member 1 The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. 1580863 15631994,7606712,11943150,10773885,17968321,17002498,16030254,15616574,15592455,15489334,14514668,12857735,12686597,12477932,12475954,12388762,11780052,11701125,11470413,10899006,10811817,10644998,10226031,10188731,10030671,9724749 22919 NM_012325,AL035071,CH471077,BC040410,BC106068,BC109281,BC128442,CR592459,U24166 NP_036457,CAB53072,EAW76348,EAW76349,AAI06069,AAI09282,AAI28443,AAC09471,Q15691 Hs.472437 GDB:9958791 EB1|MGC117374|MGC129946 protein-coding 1344538 MAPRE2 microtubule-associated protein, RP/EB family, member 2 The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. The function of this protein is unknown; however, its homology suggests involvement in tumorigenesis of colorectal cancers and proliferative control of normal cells. This gene may belong to the intermediate/early gene family, involved in the signal transduction cascade downstream of the TCR. 1580863 9233623,18081319,17889670,17350042,17081983,16769578,16763565,16381901,16189514,16007168,15862129,15631994,15592455,15489336,15489334,14702039,14514668,12477932,12475954,12388762,11076863,10811817,10188731,10030671,9724749,11470413,7606712 10982 NM_014268,AC015967,CH471088,AB016823,AK090945,BC007318,BT020086,CR536545,X94232 NP_055083,EAX01336,EAX01337,EAX01338,EAX01339,EAX01340,BAA83375,AAH07318,AAV38889,CAG38782,CAA63923,Q0JSD3,Q15555,CAL38581,ABM83849,ABM87171 Hs.532824 GDB:9958891 EB1|EB2|RP1 protein-coding 1343455 MAPRE3 microtubule-associated protein, RP/EB family, member 3 The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. 1580863 17310996,16189514,16079286,15631994,15489334,14514668,12477932,11161807,10644998,10188731,9233623,15117959 22924 NM_012326,AC013472,AF288787,CH471053,AB025186,BC011557,CR536523,CR541845,CR604092,Y11174 NP_036458,AAY14653,AAK07556,AAK07557,EAX00660,EAX00661,EAX00662,EAX00663,EAX00664,EAX00665,EAX00666,BAA82958,AAH11557,CAG38760,CAG46643,CAA72060,Q6FHB0,Q9UPY8,ABM83231,ABM86430 Hs.515860 GDB:9959021 EB3|EBF3|EBF3-S|RP3 protein-coding 736496 MAPT microtubule-associated protein tau This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. 1300048,1358432,1302530,1358431,1302532,1302531,1580863 9763511,7566652,9736630,12888622,7972031,1918161,2498079,8522593,1057175,1389180,1421571,8642405,10747907,18413467,18382889,18322394,18319590,18307033,18284428,18234697,18216194,18210157,18185033,18184373,18177439,18166610,18163405,18162161,17386961,17385861,17376439,17373874,17362999,17357082,17341679,17311412,17309878,17307736,17304350,17274033,17266761,17204369,17192721,17192672,17186252,17185385,17179995,17176091,17174556,17172055,17169350,17166276,17135279,17101697,17085483,17084815,17389797,17078951,17072625,17056594,17045592,17042504,17029411,17028556,17023423,17021754,16987883,16958643,16943417,16939415,16930434,16914144,16909000,16908029,16906164,16906163,16902761,16891100,16879631,16877359,16876320,16875690,16839689,16818492,16807328,16793187,16788822,16781671,16777844,16753151,16738255,16735465,16734669,16717456,16687396,16678934,16651626,16634634,16609851,16606369,16566606,16552760,16519508,16503405,16487687,16478768,16478530,16477009,16475817,16475161,16464956,16464864,17008320,16456666,16446437,16443603,16420965,16415175,16410051,16386371,16371011,16362832,16362633,16315267,16251138,16246844,16240366,16226838,16226718,18072964,18070606,18065436,18052981,18022644,18007595,17986027,17976912,17954934,17932487,17925548,17914261,17908237,17898350,17826340,17822846,17727636,17721707,17707586,17685560,17683088,17662000,17637803,17608454,17565981,17562708,17561815,17555970,17517691,17514749,17499212,17493040,18093153,17409229,16000144,15997419,15994305,15975068,15973541,15963990,15963640,15953362,15950767,15940384,15878580,15869817,15855649,15855160,15848182,15823754,15823045,15822905,15795929,15792962,15765246,15750210,15746184,15733856,15732111,15721985,15671021,15652510,15638805,15627775,15596612,15570502,15546861,15542598,15532542,15525651,15509534,15489334,15477533,15475684,15464261,15459824,15385569,15376481,15372253,15365985,15356202,15345747,15302935,15297935,15293277,15283964,15266787,15249677,15240881,15228592,15228591,15201350,15198676,15178951,15178932,15178931,15140937,15126504,15121898,15115761,15106853,15096589,15083285,15075227,15053964,15034924,15020716,15009664,15004327,14999081,16225961,16221853,16195395,16182262,16176937,16165272,16157753,16129700,16125396,16115884,16114883,16042549,16023860,16020737,16014719,16005901,11585254,11456301,11391737,11313338,11311121,11278002,11264299,11255441,11220749,11181841,11162250,11117553,11117542,11117541,11104762,11089577,11071507,10899436,10840038,10822460,10802785,10767321,10762698,10737616,10604746,10534245,10514099,10489057,10464279,10412802,11601501,10393977,10391244,14991829,14991828,14991810,14967043,14966169,14963027,14769048,14769047,14761950,14730711,14702039,14697667,14660557,14627651,14615799,14612456,14600827,14595660,14594945,14572459,14523627,14517953,14503643,12975285,12963086,12937143,12932819,12925374,12911634,12883828,12872001,12853572,12847166,12826737,12811584,12796837,12765608,12756133,12714745,12710929,12678504,12649279,14993907,12641733,12629248,12590615,12573250,12527113,12509859,12505985,12492138,12477932,12476321,12473774,12470988,12464279,12435421,12387897,12387894,12368474,12368187,12325083,12231446,12226093,12220379,12212558,12198126,12177374,12144513,12112079,12082079,12070658,12056929,12032355,12000767,11988340,11971082,11971081,11959919,11959122,11958849,11939896,11921059,11912108,11906000,11891833,11889249,11861703,11852060,11837744,11831556,11831025,11826099,12565146,11812770,11706972,11698154,11641718,10214944,10208578,10090741,9973279,9922135,9836646,9832145,9789048,9771888,9736786,9735171,9689133,9641683,9636220,9629852,9614189,9565682,9546672,9512010,9353289,9326300,9199504,9147408,8999860,8910513,8632146,8546229,7936241,7931292,7706316,7684835,7567473,7566346,6743699,6304075,3131773,2833519,10374757,2516729,2484340,2123288,1915258,1723470,1713721,1512244,1420178,1330687,1181841,12176984,14636947,2495000 1358432,1302530,1358431,1302532,1302531 4137 NM_005910,NM_016834,NM_016841,NG_007398,NM_001123066,NM_001123067,AC004139,AC010792,AF047863,CH471233,AB073354,AF456477,AK055986,AK095802,AK226139,AW161357,AW295014,AY526356,AY730549,BC000558,NM_016835,BC032572,BC040444,BC061892,BC071830,BC094805,BC098281,BC099721,BC101936,BC114504,BC114948,BI552187,BN000503,BT006772,CR599561,CR623207,J03778,M25298,X14474 NP_058519,NP_005901,NP_058518,NP_058525,NP_001116538,NP_001116539,AAC04277,AAC04278,AAC04279,EAW93565,EAW93566,EAW93567,EAW93568,EAW93569,EAW93570,EAW93571,EAW93572,EAW93573,EAW93574,BAB71065,AAS17881,AAU45390,AAH00558,AAH98281,AAH99721,AAI01937,AAI14505,AAI14949,CAG26750,AAP35418,AAA60615,AAA57264,CAA32636,P10636,Q96N45 Hs.101174 GDB:119434 DDPAC|FLJ31424|FTDP-17|MAPTL|MGC138549|MSTD|MTBT1|MTBT2|PPND|TAU protein-coding 1354489 MARCH1 membrane-associated ring finger (C3HC4) 1 1580863 14722266,14702039,9847074 55016 NM_017923,AC093788,AC098867,AC108154,CH471056,AK000675,AK289711,AL713759,AV716666,AW118953,CR607777 NP_060393,EAX04834,EAX04835,BAA91319,BAF82400,CAD28529,Q8TCQ1,AAI48532,AAI53125 Hs.608487,Hs.696248 DKFZp564M1682|FLJ20668|MARCH-I|RNF171 protein-coding 1601818 MARCH10 membrane-associated ring finger (C3HC4) 10 17604280,15489334,14702039,12477932 162333 NM_152598,NM_001100875,AC005821,AC068512,AC080038,CH471109,AK093076,AK097506,AK122947,AW473122,BC035021,BX648705 NP_689811,NP_001094345,EAW94337,EAW94338,EAW94339,EAW94340,BAC04044,BAC05079,AAH35021,Q8NA82 Hs.665663 FLJ35757|MARCH-X|RNF190 protein-coding 1642105 MARCH11 membrane-associated ring finger (C3HC4) 11 17604280,12477932 441061 NM_001102562,AC016650,AC092335,BC150513,BC150514,CR590337,DB455291 NP_001096032,AAI50514,AAI50515 Hs.662216 MARCH-XI protein-coding 1351107 MARCH2 membrane-associated ring finger (C3HC4) 2 16428329,15689499,15489334,15146197,14722266,12477932,11042152,9110174,8619474 51257 NM_016496,NM_001005415,NM_001005416,AC136469,CH471139,AB197929,AF151074,AK130163,BC015910,BC032624,BC111388,BI546028,CN363445 NP_057580,NP_001005415,NP_001005416,EAW68924,BAD89359,AAF36160,AAH15910,AAH32624,AAI11389,Q9P0N8 Hs.631861 HSPC240|MARCH-II|RNF172 protein-coding 1344254 MARCH3 membrane-associated ring finger (C3HC4) 3 1580863 16428329,15489334,14722266,12477932,9110174,8619474 115123 NM_178450,AC004507,AC005221,AC093532,CH471086,AF055007,AK290129,BC047569 NP_848545,EAW48844,BAF82818,AAH47569,Q86UD3 Hs.132441 MARCH-III|MGC48332|RNF173 protein-coding 1353584 MARCH4 membrane-associated ring finger (C3HC4) 4 1580863 15489334,14722266,12477932,10718198,9110174,8619474 57574 NM_020814,AC012513,AC069155,AC098820,CH471063,AB037820,AL353945,BC048793,BC098448,U79281 NP_065865,EAW70566,BAA92637,AAH48793,AAH98448,Q9P2E8 Hs.170388 MARCH-IV|MGC104908|RNF174 protein-coding 1346314 MARCH5 membrane-associated ring finger (C3HC4) 5 MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM] 737633 17606867,16936636,16874301,15489334,15164054,14722266,14702039,12477932 737633 54708 NM_017824,AL158040,AL161652,CH471066,AB191202,AK000452,BC015480,BE393612,CR616758,CR618394,CR622689 NP_060294,CAI13639,CAI15361,EAW50094,EAW50095,EAW50096,BAF02285,BAA91173,AAH15480,Q9NX47 Hs.573490 FLJ20445|MARCH-V|MITOL|RNF153 protein-coding 1343716 MARCH6 membrane-associated ring finger (C3HC4) 6 737633,1580863 16373356,15673284,15489334,14722266,14702039,12477932,11641273,9628581 737633 10299 NM_005885,AC012640,AC092336,CH471102,CQ834252,AB011169,AF009301,AK000970,BC013761,BC039293,BC046148,BC111494,BC136461,BC142679,BC142694,CR603299 NP_005876,EAX08065,EAX08066,EAX08067,CAH05341,BAA25523,AAB66840,AAH46148,AAI36462,AAI42680,AAI42695,O60337 Hs.432862 KIAA0597|MARCH-VI|RNF176|TEB4 protein-coding 1603971 MARCH7 membrane-associated ring finger (C3HC4) 7 17161353,16868077,16713569,15815621,15670816,15489334,14722266,14702039,12477932,9373149,8125298 64844 NM_022826,AC009961,CH471058,AK022973,AK124225,AK222880,AK292836,AL050171,AL597638,AL833651,BC003404,BC065014,BI462287,CR627026 NP_073737,AAY14941,EAX11401,EAX11402,BAB14340,BAD96600,BAF85525,AAH03404,AAH65014,Q9H992 Hs.529272 GDB:11505663 AXO|AXOT|DKFZP586F1122|MARCH-VII|RNF177 protein-coding 1353860 MARCH8 membrane-associated ring finger (C3HC4) 8 18096478,15489334,15164054,14722266,14702039,12582153,12477932 220972 NM_001002265,NM_001002266,AL445201,AL512595,AL731567,CH471160,NM_145021,AA418494,AK023636,AK057289,AL833316,BC025394,BC066988,BF195460,BG433948,BG717635,BM906478 NP_659458,NP_001002265,NP_001002266,CAI12414,CAI12416,CAI41244,CAI41246,CAI41247,EAW86644,EAW86645,EAW86646,EAW86647,EAW86648,EAW86649,EAW86650,EAW86651,EAW86652,AAH25394,AAH66988,Q5T0T0 Hs.499489 MARCH-VIII|MIR|RNF178|c-MIR protein-coding 1351043 MARCH9 membrane-associated ring finger (C3HC4) 9 737633,1580863 17174307,15489334,14722266,14702039,12477932 737633 92979 NM_138396,NG_007484,AC025165,CH471054,AK093897,BC009489,BC036455,BC050397 NP_612405,EAW97063,EAW97064,EAW97065,BAC04247,AAH09489,AAH36455,AAH50397,Q86YJ5,Q8N9T1 Hs.632709 FLJ36578|MARCH-IX|RNF179 protein-coding 735485 MARCKS myristoylated alanine-rich protein kinase C substrate The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. 1580863 1560845,18329017,18055557,17456004,17292354,17081983,16941482,16677610,15889447,15623535,15489334,15345747,15239673,15146197,14702039,14574404,14506265,12577052,12477932,11930178,11825894,11533058,11327693,10734119,9295331,8798548,8566422,8557118,8486722,8420923,8162705,8034575,7588787,2473066,1860846,1427823,1396720 4082 NM_002356,AL132660,CH471051,CS105042,DQ341274,M68955,AI142997,AK027274,AK074526,AW163148,BC013004,BC028284,BC039492,BC068059,BC089040,CN345330,D10522,M68956 NP_002347,CAI19942,EAW48258,EAW48259,CAJ01280,ABC67467,AAA59554,AAH13004,AAH28284,AAH68059,AAH89040,BAA01392,AAA59555,P29966,Q05C82,Q6NVI1 Hs.519909,Hs.712721 GDB:118835 80K-L|FLJ14368|FLJ90045|MACS|MRACKS|PKCSL|PRKCSL myristoylated alanine rich protein kinase c substrate protein-coding 1352052 MARCKSL1 MARCKS-like 1 15345747,12477932,12177731,11230166,11076863,10827182,9598313,9110174,8619474,8132675,1864362,16189514,11256614,17081983,16710414,16429158,16381901,15489336,15489334 65108 CR607885,CR608551,CR609462,CR611461,CR611715,CR617460,CR621540,CR624801,CR625187,CR625318,X70326,NM_023009,AF031640,AL109945,AY293577,CH471059,L76376,AL713653,AY007131,BC007904,BC066915,CR590657,CR591730,CR593904,CR594797,CR595141,CR595693,CR596150,CR596259,CR596703,CR596974,CR597180,CR599096,CR599424,CR602280,CR602564,CR603178,CR603508,CR603966,CR604752 CAA49793,P49006,Q0JSY2,CAL38382,ABM84163,ABM87566,NP_075385,CAI22887,AAP37955,EAX07537,EAX07538,EAX07539,CAD28462,AAH07904,AAH66915 Hs.75061 GDB:1230435 F52|MACMARCKS|MLP|MLP1|MRP protein-coding 1349062 MARCO macrophage receptor with collagenous structure The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. 1580863 10331948,9468508,16335952,16237101,15489334,12847263,12477932,12444143,12097327,11820786,11315932,10651831,7867067 8685 NM_006770,AC013457,AF128186,CH471103,AF035819,BC016004,CB529479,CR590986,CR595006,CR603381,CR614449,CR623903 NP_006761,AAX88875,AAD41064,EAW95207,AAC08800,AAH16004,Q4ZG40,Q9UEW3,ABM83749,ABM83759,ABM87079 Hs.67726 GDB:9956285 SCARA2 protein-coding 732241 MARK1 MAP/microtubule affinity-regulating kinase 1 633320,1580863 14976552,9108484,17192257,16803889,16710414,16344560,15489334,14702039,14594945,14517247,12477932,12435421,12387894,10819331,10737616,10090741,9832145,9771888,9735171,8999860,8631898,7931292,7706316,15778465 633320 4139 NM_018650,AC096640,AL592406,CH471100,AB040910,AF154845,AK027493,AK098103,AL512724,BC068608,BC113869,BC114478,CA412112,DB308514 NP_061120,CAH72462,CAH72463,EAW93298,EAW93299,EAW93300,EAW93301,EAW93302,BAA96001,AAF72103,BAB55152,CAC21661,AAI13870,AAI14479,Q9H051,Q9P0L2 Hs.497806 GDB:9315108 KIAA1477|MARK|MGC126512|MGC126513 protein-coding 1344457 MARK2 MAP/microtubule affinity-regulating kinase 2 EMK (ELKL Motif Kinase) is a small family of ser/thr protein kinases involved in the control of cell polarity, microtubule stability and cancer. Several cDNA clones have been isolated that encoded two isoforms of the human ser/thr protein kinase EMK1. These isoforms were characterized by the presence of a 162-bp alternative exon that gave rise to two forms, one containing the exon and the other one lacking it. Both forms were found to be coexpressed in a number of selected cell lines and tissue samples. The human EMK1 was shown to be encoded by a single mRNA ubiquitously expressed. 15365179,15302935,15158914,12477932,11433294,10516437,9730619,9373149,9108484,8938448,8889548,8125298,7613050,17353931,14743216,15778465,14976552,14676191,15324659,8274451,18315603,18045904,18005242,17234589,17192257,17081983,16980613,16964243,16803889,16707567,16554811,16472737,16257959,15492257,15489334 2011 NM_001039468,NM_017490,NM_004954,NM_001039469,CH471076,U73647,AB188493,AB271694,AF387638,AI524222,AK225766,AK290339,AY562187,AY562188,BC008771,BC084540,BM724555,BT007342,BX383836,CR602633,X97630,Z25427,AP003780 NP_001034557,NP_059672,NP_004945,NP_001034558,EAW74174,EAW74175,EAW74176,EAW74177,EAW74178,EAW74179,EAW74180,BAD37141,BAF96440,AAK82368,BAF83028,AAT67601,AAT67602,AAH08771,AAH84540,AAP36006,CAA66229,CAA80914,Q5DNC5,Q5DNC6,Q7KZI7,ABM81619,ABM84802 Hs.567261 GDB:386060 EMK1|MGC99619|PAR-1|Par1b protein-coding 1353156 MARK3 MAP/microtubule affinity-regulating kinase 3 1580863 16169070,17353931,17726107,17672918,17192257,16980613,16968750,15489334,15319445,15182702,14760703,14594945,12941695,12879020,12477932,11433294,9543386,9533022,8816492,16189514,15778465 4140 NM_002376,AL133367,CH471061,AB209542,AF170723,AF387637,AF465413,BC024773,BX161395,BX248250,CR598572,DQ368336,M80359,U64205 NP_002367,EAW81812,EAW81813,EAW81814,EAW81815,EAW81816,EAW81817,EAW81818,EAW81819,BAD92779,AAD51631,AAK82367,AAL69982,AAH24773,CAD61882,CAD62578,ABD15137,AAA59991,AAC15093,P27448,Q59FB8,Q86TT8,Q86U11,ABM82641,ABM85818 Hs.35828 GDB:9315109 CTAK1|KP78|PAR1A protein-coding 1321076 MARK4 MAP/microtubule affinity-regulating kinase 4 633320,1580863 15009667,14594945,14676191,11326310,12735302,18254724,17192257,14702039,12477932,11347906,9108484,16189514 633320 57787 NM_031417,AC005581,AC006126,CH471126,AB049127,AB058763,AB073663,AB088047,AK027619,AK074578,AK075272,AY057448,AY120867,BC009049,BC071948 NP_113605,AAC33487,EAW57332,EAW57333,EAW57334,EAW57335,EAW57336,BAB39380,BAB47489,BAE45729,BAC03375,BAB55238,BAC11070,BAC11510,AAL23683,AAM55491,AAH09049,AAH71948,O75271,Q3LID9,Q6IPE9,Q8N2N5,Q96GZ3,Q96L34,AAI66620 Hs.34314 GDB:10796972 FLJ90097|KIAA1860|MARKL1|Nbla00650 protein-coding 1313280 MARS methionyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene belongs to the class I family of tRNA synthetases. 1580863 8921912,17353931,15489334,14702039,12729910,12477932,11714285,10913161,10791971,10448063,9878398,9373149,8125298,6585969,1665486,1651330 4141 NM_004990,AC022506,CH471054,AK092986,AK122956,AK222767,AK290857,BC002384,BC006328,BC011639,BC011849,BC015011,BC065187,BT007338,CR626104,D84224,X94754,Z49216 NP_004981,EAW97019,EAW97020,BAC04011,BAD96487,BAF83546,AAH02384,AAH06328,AAH11639,AAH11849,AAH15011,AAP36002,BAA95668,CAA64381,CAA89153,P56192,Q8NAB3 Hs.632707 GDB:120165 FLJ35667|METRS|MTRNS methionine-trna synthetase protein-coding 1349073 MARS2 methionyl-tRNA synthetase 2, mitochondrial 1580863 15274629,15815621,15489334,14702039,12477932 92935 BC026361,BC040934,BC126294,NM_138395,AC073058,CH471063,AB107013,AK098121,BC009115 AAH40934,AAI26295,Q96GW9,NP_612404,AAX93244,EAW70170,BAC92749,BAC05238,AAH09115 Hs.116602 MetRS|mtMetRS methionine-trna synthetase 2 (mitochondrial) protein-coding 1353944 MARVELD1 MARVEL domain containing 1 737633,1580863 737633 83742 Q9BSK0 NM_031484,BC004995 1345417 MARVELD2 MARVEL domain containing 2 Tight junctions (TJ) prevent leakage of solutes through the paracellular pathway of epithelial cells. MARVELD2, or tricellulin (TRIC), is an integral membrane protein concentrated at the vertically oriented TJ strands of tricellular contacts (Ikenouchi et al., 2005 [PubMed 16365161]).[supplied by OMIM] 737633,1580863 17186462,17081983,16365161,15951569,15538632,15489334,14702039,12477932 737633 153562 NM_144724,NM_001038603,AC144587,AC145145,AC145146,CH471137,AB219936,AB219937,AK055094,AK292962,BC033689,DQ682656,DQ682657,DQ682658 NP_653325,NP_001033692,EAW51277,EAW51278,BAE54513,BAE54514,BAB70853,BAF85651,AAH33689,ABG89104,ABG89105,ABG89106,Q8N4S9 Hs.657687 DFNB49|FLJ30532|MARVD2|MRVLDC2|Tric protein-coding 1347121 MARVELD3 MARVEL domain containing 3 1580863 16341674,15616553,15489334,15146197,14702039,12477932 91862 NM_001017967,NM_052858,AC009097,CH471166,AI420156,AK056842,AK292185,BC005052,BC011893,BC013376,BM742281,BX109314,BX348391,CN277354,CN311659 NP_001017967,NP_443090,EAW59227,EAW59228,EAW59229,BAB71294,BAF84874,AAH05052,AAH11893,AAH13376,Q96A59,Q9BSH2 Hs.513706 FLJ32280|MARVD3|MRVLDC3 protein-coding 731461 MAS1 MAS1 oncogene The structure of the MAS1 product indicates that it belongs to the class of receptors that are coupled to GTP-binding proteins and share a conserved structural motif, which is described as a '7-transmembrane segment' following the prediction that these hydrophobic segments form membrane-spanning alpha-helices. The MAS1 protein may be a receptor that, when activated, modulates a critical component in a growth-regulating pathway to bring about oncogenic effects. 1581849,1581931,1580863,737797 3419518,8661154,16611642,15489334,14574404,12829792,12477932,11967280,10785460,3708691,3329713,2197067,1725048 1581849,1581931,737797 4142 NM_002377,AL035691,CH471051,BC069142,BC069581,BC110454,CR542261,M13150 NP_002368,CAB72444,EAW47609,EAW47610,EAW47611,AAH69142,AAH69581,AAI10455,CAG47057,AAA36199,P04201 Hs.99900 GDB:120166 MAS|MGC119966 protein-coding 1351772 MAS1L MAS1 oncogene-like 1580863 1723144,15489334,14574404,12477932,11551509 116511 NM_052967,AL645927,AL662869,BX000531,BX247947,BX927133,CH471081,CR388393,CR759768,CR759956,S78653,BC069127,BC069345,BC095511,BC101176,BC101177 NP_443199,CAI18057,CAI17488,CAI18459,CAM26164,CAQ10419,EAX03197,CAQ10827,CAQ09891,CAQ06741,AAB21255,AAH69127,AAH69345,AAH95511,AAI01177,AAI01178,P35410,Q502V9,Q5SUN5 Hs.533297 MAS-L|MGC119987|MRG|dJ994E9.2 protein-coding 2292062 MAS1LP MAS1 oncogene-like pseudogene 646366 XM_929292,XM_940696 XP_934385,XP_945789 protein-coding 733853 MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in multiple transcript variants encoding two RARF components that are involved in the mannan-binding lectin (MBL) pathway of complement activation. Two of the isoforms are cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. 1580863 8018603,11532276,10639434,10925294,17938215,17444953,16112196,16102832,12601245,12477932,12421953,12370377,11907111,11485744,10946292,10878362,10679061,10475605,9719152,8921412,8240317,7759119 5648 NM_001879,NM_139125,NM_001031849,AB007617,AC007920,CH471052,D61695,AF284421,AK129893,AK291157,AK291686,AL134380,AL137646,AL708781,BC039724,BC106945,BC106946,BX641029,BX647237,CB162101,CR749615,D28593 NP_001870,NP_624302,NP_001027019,BAA89206,EAW78150,EAW78151,EAW78152,EAW78153,BAA34864,AAK84071,BAF83846,BAF84375,CAB70856,AAH39724,AAI06946,AAI06947,CAE46018,CAI46037,CAH18409,BAA05928,P48740,Q5HYM1,Q68D21,Q6MZL2,Q8IUV8,Q96RS4,Q9NSY8 Hs.89983 GDB:330954 CRARF|CRARF1|DKFZp686I01199|FLJ26383|MASP|MGC126283|MGC126284|PRSS5|RaRF mannose-binding protein associated serine protease-1 protein-coding 1342525 MASP1P1 mannan-binding lectin serine peptidase 1 pseudogene 1 12601245,10475605 246050 NG_002640,AB036334 GDB:11508974 mannan-binding lectin serine protease 1 pseudogene 1 pseudo 1606320 MASP2 mannan-binding lectin serine peptidase 2 The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in two transcript variants encoding two RARF components that are involved in the mannan-binding lectin pathway of complement activation. The longer isoform is cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. 9087411,10639434,10925294,11532276,18295674,18221301,17984804,17971300,17709141,17614162,17565323,17303612,17252003,17096357,17045845,16710414,16395704,16112196,16040602,16029433,15746044,15364579,15117939,12904520,12477932,12421953,11907111,11426320,10946292,10878362,10679061,10393416,10330290,10092804,9777418,8018603 10747 NM_006610,Y18286,Y18287,AB008047,AK290823,BC052299,BC067359,BC080556,X98400,Y09926,Y18281,Y18282,Y18283,Y18284,NM_139208,NG_007289,AB033742,AF321558,AF321562,AJ297949,AJ300188,AL109811,CH471130,CS250107,CS250110,CS251161,CS251164 NP_006601,CAJ58411,CAB50732,CAB50733,CAB50734,CAB50735,BAA78616,BAF83512,CAA67050,CAA71059,CAB50728,CAB50729,CAB50730,CAB50731,O00187,Q9UC48,AAI56087,AAI56887,NP_631947,BAA85658,BAA85659,AAG50274,AAG50275,CAC17138,CAC17139,CAC15568,EAW71674,CAJ58371,CAJ58372,CAJ58410 Hs.655645 GDB:6071500 MAP19|MASP-2|sMAP protein-coding 1354102 MAST1 microtubule associated serine/threonine kinase 1 1580863 17081983,15489334,15057824,12614677,12477932,11441184,10404183,10231032 22983 NM_014975,AC020934,AD000092,CH471106,AB023190,BC017485,BC026709,BC027985,CR609181,CR622253 NP_055790,AAB51171,EAW84317,EAW84318,EAW84319,BAA76817,AAH27985,Q9Y2H9 Hs.227489 KIAA0973|SAST|SAST170 protein-coding 1312089 MAST2 microtubule associated serine/threonine kinase 2 10646847,12117771,17081983,16710414,15489334,15308666,15146197,14764729,14760703,14702039,12477932,12421765,11099500,10404183,9872452,8902215,8889548,8246979,17353931 23139 NM_015112,AL358075,AL603882,AL603888,AL645480,AL772251,CH471059,AB018350,AB047005,AK027123,AK055291,AK096519,AL137594,AL540100,AL833919,BC006166,BC015816,BC065499,BM675011,CN297081,CR607753 NP_055927,CAI21705,CAI16562,CAH73244,EAX06948,EAX06949,BAA34527,BAB40778,CAB70833,CAD38775,AAH06166,AAH15816,AAH65499,Q6P0Q8,Q9NT11 Hs.319481 FLJ39200|KIAA0807|MAST205|MTSSK|RP4-533D7.1 protein-coding 1316095 MAST3 microtubule associated serine/threonine kinase 3 1580863 10737800,9628581,15951562,16344560,15057824 23031 NM_015016,AC005793,AC007192,AC020904,AC093054,AB011133,BI907332,BQ340083,DA134568 NP_055831,AAC62830,AAD22670,BAA25487,O60307 Hs.706834 KIAA0561 protein-coding 1348741 MAST4 microtubule associated serine/threonine kinase family member 4 1580863 17086981,14702039,12477932,9205841 23227 O15021 AY830839,AB002301,AK057601,AK131421,BC003646,BC018692,BX648796,BX648980 AAW52510,BAA20762,BAB71532,BAD18568,O15021 Hs.595458 KIAA0303 protein-coding 1601915 MAST4 microtubule associated serine/threonine kinase family member 4 17086981,16344560,14702039,12477932,9205841 375449 NM_198828,NM_015183,AC008872,AC008920,AC016634,AC034208,AC044799,AC092349,AC092373,AC113365,CH471137,AB002301,AK057601,AK131421,AY439222,AY830839,BC003646,BC018692,BC033215,BM967134,BX648796,BX648980,DA452178 NP_942123,NP_055998,EAW51319,EAW51320,EAW51321,BAA20762,BAB71532,BAD18568,AAR13901,AAW52510,AAH33215,O15021,Q6T2V4,Q8N4X4 Hs.595458 DKFZp686E18148|DKFZp686N1467|FLJ16540|FLJ33039|KIAA0303 similar to microtubule associated testis specific serine/threonine protein kinase protein-coding 1319386 MASTL microtubule associated serine/threonine kinase-like 1580863,1598951 16964243,16344560,15489334,15164054,14702039,12890928,12477932,10891439,10521306,9373149,8125298 1598951 84930 NM_032844,AL160291,CH471072,AK027719,AK074804,AK123004,AK225319,AW408392,AW675108,BC009107,BC013704,BU430288,CR592673,DA524606,DB150802 NP_116233,CAI16908,CAI16909,CAI16910,EAW86064,EAW86065,EAW86066,EAW86067,BAB55321,BAC11218,AAH09107,Q96GX5 Hs.276905 GDB:10794765 FLJ14813|RP11-85G18.2|THC2 protein-coding 732753 MAT1A methionine adenosyltransferase I, alpha This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. 1580863,1599915,1300048,1359039 8314764,1772450,16341674,15935930,15489334,15164054,12477932,10677294,9482646,9175157,9042912,8770875,8393662,7560086,7271238,7213623,3812486,1683972,1056281 1599915,1359039 4143 NM_000429,AL359195,CH471142,AK026931,AK290820,BC018359,BM738684,BX496326,CR600407,D49357,X69078 NP_000420,CAI13695,CAI13696,EAW80396,EAW80397,BAF83509,AAH18359,BAA08355,CAA48822,Q00266,ABM81999,ABM85182 Hs.282670 GDB:129077 MAT|MATA1|SAMS|SAMS1 protein-coding 737506 MAT2A methionine adenosyltransferase II, alpha 1580863,1300048,1359040 7665609,18423013,18041713,17631143,16413417,15815621,15489334,14530285,12671891,12660248,12477932,9703951,7213623,1426236 1359040 4144 NM_005911,AC016753,CH471053,AK291126,BC001686,BC001854,BI549760,CR595364,CR596873,DQ083239,X68836 NP_005902,AAY24339,EAW99511,EAW99512,EAW99513,EAW99514,BAF83815,AAH01686,AAH01854,AAY85355,CAA48726,P31153 Hs.516157 GDB:136213 MATA2|MATII|SAMS2 protein-coding 1606800 MAT2B methionine adenosyltransferase II, beta The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 12975309,12878157,12671891,12477932,11337507,11230166,11076863,9055605,7213623,10644686,11256614,18045590,18041713,16381901,15489336,14702039 27430 NM_013283,AC112205,AY033822,CH471062,AB073390,AF113225,AF182814,AJ243721,AK096178,AK291919,AL136664,AU279489,NM_182796,AW966728,AY358695,BC005218,BC066645,BC093030,CR596069,CR596100,CR622441,DQ395260,DQ413182,DQ413183 NP_877725,NP_037415,EAW61517,EAW61518,EAW61519,EAW61520,BAE45720,AAG39296,AAF28477,CAB56837,BAF84608,CAB66599,AAQ89058,AAH05218,AAH66645,AAH93030,ABD59011,ABD85290,Q0JU36,Q9NZL9,CAL37975,CAL38612 Hs.696057 GDB:10796039 MAT-II|MATIIbeta|MGC12237|Nbla02999|TGR protein-coding 69108 MATK megakaryocyte-associated tyrosine kinase The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. 1580863 8999872,8288563,7530249,17934522,17492661,16707123,16574955,16344560,16189514,16168623,15890649,15748901,15489334,15329911,15302935,15057824,14702039,12782282,12477932,12429987,12122014,12063569,10329710,10080957,9373149,9255603,9171348,9038210,8134117,8125298,7936664,7536744,7516063,1722201 4145 S71669,X77278,NM_002378,NM_139354,NM_139355,AC005777,CH471139,S75164,S75168,AK055395,AK225834,AL137754,BC000114,BC003109,BG396388,BM925586,BQ109562,CR610757,CR614369,CR619542,DA592994,L18974 AAB30995,CAA54493,P42679,Q16176,Q9NST8,NP_002369,NP_647611,NP_647612,AAC62843,EAW69284,EAW69285,EAW69286,EAW69287,AAC60645,CAB70906,AAH00114,AAH03109,AAA16703 Hs.631845 GDB:304667 CHK|CTK|DKFZp434N1212|HHYLTK|HYL|HYLTK|Lsk|MGC1708|MGC2101 protein-coding 1352772 MATN1 matrilin 1, cartilage matrix protein This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. 1580863 9083061,2246248,17176459,16710414,16303743,15552564,12175111,11896063,11882030,10196235,7989046 4146 NM_002379,AL137857,CH471059,M55675,M55682,AK075519,BC017506,BC131710,CR604652,CR622727,M55683 NP_002370,CAI19322,EAX07642,EAX07643,EAX07644,AAB38702,AAH17506,AAI31711,AAA63904,P21941,Q8WVV1 Hs.150366,Hs.659751 GDB:127280 CMP|CRTM protein-coding 1313328 MATN2 matrilin 2 This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. 1580863 11124542,18328806,16713569,16401863,16303743,15489334,14702039,12975309,12477932,12180907,12164922,11896063,11852232,9083061 4147 NM_030583,AP002906,AP003352,CH471060,AI434413,AK027775,AK075489,AK289721,AL137638,AL833931,AY358895,BC010444,BC016394,BX649093,CB988661,CR594902,CR600647,U69263,NM_002380 NP_002371,NP_085072,EAW91764,EAW91765,EAW91766,EAW91767,EAW91768,BAB55358,BAC11648,BAF82410,CAB70853,CAD38787,AAQ89254,AAH10444,AAH16394,AAC51260,O00339,Q8N2G3,Q96AA0 Hs.189445,Hs.660622 GDB:9451121 protein-coding 1312907 MATN3 matrilin 3 This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. 1599920,1599919,1580863 9350998,18205203,17881354,17517694,17311924,16641049,16344560,16287128,16199550,15694129,15523498,15459972,15121775,14994237,14729835,12736871,11896063,11479597,9847074,9799608,9287130,16769693 1599920,1599919 4148 NM_002381,AC079145,CH471053,AA461483,AJ001047,AJ224741,AK290856,AU121718,BC139907,CA447528,Y13341 NP_002372,AAX88937,EAX00837,CAA04501,CAA12110,BAF83545,AAI39908,CAA73785,O15232,Q4ZG02 Hs.656199 GDB:9836486 EDM5|HOA protein-coding 1320229 MATN4 matrilin 4 This gene encodes a member of von Willebrand factor A domain containing protein family. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. The specific function of this gene product has not yet been determined. Three alternatively spliced variants have been described. 1580863 9827539,18005044,16303743,14702039,11896063,11780052,11279097,9027493 8785 NM_030592,NM_030590,NM_003833,AL021578,CH471077,AJ007581,AK027323,AK074495,AK074593,AK074595,AK074597,AW134923,BC131763,BC141811,BC151219 NP_085095,NP_085080,NP_003824,CAB39280,CAB46380,CAI21077,EAW75866,EAW75867,EAW75868,CAA07569,BAC11081,BAC11083,AAI31764,AAI41812,AAI51220,O95460 Hs.278489 GDB:9956939 FLJ14417|HE6WCR54 protein-coding 1350110 MATR1 matrin F/G 1 4024 GDB:335228 736833 MATR3 matrin 3 The protein encoded by this gene is localized in the nuclear matrix. It may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. Two transcript variants encoding the same protein have been identified for this gene. 69882,1580863 17353931,2033075,17658460,17081983,16713569,16189514,15489334,12469345,12840015,12477932,11525732,10931946,9872452,9757574,9110174,8619474,2180926,15302935,14702039,12927788 69882 9782 NM_199189,NM_018834,AC011404,CH471062,AB018266,AF117236,AK001388,AK057645,AL117541,AY007157,BC015031,BC036498,BU187803,BX510145,BX537365,BX647153,CR597092,CR749210,CR749625,M63483,CR936615 NP_954659,NP_061322,EAW62114,EAW62115,EAW62116,EAW62117,BAA34443,AAF17217,AAG02007,AAH15031,CAH18067,CAH18419,P43243,Q5CZA7,Q68D11,Q68E03,Q9H4N1,CAI56758,ABM85263,ABW03706 Hs.268939 GDB:9958200 DKFZp686K0542|DKFZp686K23100|KIAA0723|MGC9105 protein-coding 731306 MAX MYC associated factor X The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Multiple alternatively spliced transcript variants have been described for this gene but the full-length nature for some of them is unknown. 17082780,17081983,16475822,16352593,16201965,16189514,15809730,15592455,15489334,15302589,15258910,15121849,14759258,12584560,12553908,12551947,12477932,12391307,12004135,11602341,11535131,11031250,10611234,10593926,10229200,9680483,9199327,9184233,9115440,8861962,8521822,8479534,17157259,17274640,17418410,2006410,8425218,17217336,8426752,8247525,7479834,1594250,1566084,1557420,1323849,11208609,11509179,9708738,17353931,10319872,9528857 4149 NM_197957,NM_145112,NM_002382,NM_145113,NM_145116,NM_145114,AL139022,CH471061,X66867,AI655674,AI917842,AK290130,AK290929,AK292189,AK292630,AL833643,AY353088,BC003525,BC004516,BC013669,BC025685,BC027924,BC036092,CR542191,CR600362,CR607503,CR619150,CR620686,M64240,X60287,AI652319 NP_932061,NP_660087,NP_002373,NP_660088,NP_660092,NP_660089,EAW80898,EAW80899,EAW80900,EAW80901,EAW80902,EAW80903,EAW80904,EAW80905,EAW80906,CAA47337,CAA47338,CAA47339,BAF82819,BAF83618,BAF84878,BAF85319,AAQ57210,AAH03525,AAH04516,AAH13669,AAH25685,AAH27924,AAH36092,CAG46988,AAA36200,AAA36201,CAA42827,P61244,Q14803,Q6V3B1,Q8IYC6,Q8TAX8,Q96CY8 Hs.285354,Hs.705897 GDB:132457 MGC10775|MGC11225|MGC18164|MGC34679|MGC36767|orf1 max protein-coding 1315360 MAZ MYC-associated zinc finger protein (purine-binding transcription factor) 1580863 1502157,17927842,17237427,16888022,16648491,15528467,15067082,14765995,12528113,12509857,12477932,12270922,11527412,10727212,10493829,10448092,9790757,9685418,8889548,8831693,8626793,1567856 4150 NM_001042539,NM_002383,AB017335,AC002301,AC009133,CH471238,AB209061,AF489858,AK074720,BC039057,BC041629,BM695402,CR590673,CR601236,CR603028,CR604629,CR607928,CR617493,CR620008,CR620810,CR621035,CR623056,CR624746,D85131,EF059746,L01420,M93339,M94046,U33819 NP_001036004,NP_002374,BAA33064,AAC08710,EAW79994,EAW79995,EAW79996,EAW79997,EAW79998,EAW79999,EAW80000,EAW80001,EAW80002,EAW80003,BAD92298,AAN03800,AAH41629,BAA12728,ABN80996,AAL31317,AAB04121,P56270,Q59GP8,Q8IUI2,Q8NFN7,Q8WZ46,Q9UJ31 Hs.23650 GDB:9837610 PUR1|Pur-1|SAF-1|SAF-2|ZF87|ZNF801|Zif87 protein-coding 1354197 MB myoglobin This gene encodes a member of the globin superfamily and is expressed in skeletal and cardiac muscles. The encoded protein is a haemoprotein contributing to intracellular oxygen storage and transcellular facilitated diffusion of oxygen. At least three alternatively spliced transcript variants encoding the same protein have been reported. 1582385,1582429,1582427,1582393,1582388,1582428,1580863 17883274,17311997,15644316,15601759,15489334,15485667,15461802,15226631,15226628,15048578,14506721,12760310,12745799,12477932,12030657,12006163,11452891,10779502,10591208,9791540,9722578,8007964,7895732,6571704,6326055,5805522,5555226,5555219,5540041,5285572,4627044,2989088,2342104,477257 1582385,1582429,1582427,1582393,1582388,1582428 4151 CR541949,NM_203377,NM_203378,NM_005368,NG_007075,AL022334,AL049747,CH471095,DQ003030,M10090,M14602,M14603,X00371,X00372,X00373,BC014547,BC018001,BQ925917,BQ956082,BU585249,CB140824,CR456516 CAG30402,CAG46747,P02144,Q8WVH6,CAK54547,CAK54846,ABM84605,ABM87049,NP_976311,NP_976312,NP_005359,CAI21837,CAI23587,EAW60065,EAW60066,EAW60067,AAX84516,AAA59595,CAA25109,AAH14547,AAH18001 Hs.517586 GDB:119378 MGC13548|PVALB protein-coding 1314332 MBD1 methyl-CpG binding domain protein 1 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich (CXXC) domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21. 10454587,12711603,16432238,10866667,9774669,17634428,17428788,17066076,16998846,16757475,16284366,16094384,15777793,15691849,16696318,15489334,15327775,15231748,15081425,14728690,14610093,14555760,12788925,12770674,12697822,12665582,12646234,12477932,12384770,12124384,10648624,10581239,10441743,10187827,9373149,9207790,8125298 4152 NM_015847,NM_015845,NM_002384,NM_015844,NM_015846,AC090246,AF120979,AF120980,AF120981,AF120982,CH471096,AB209765,AF072241,AF078830,AF078831,AF078832,AF078833,AJ564845,AK225889,AK225948,AK291519,BC033242,BC047353,DB458244,DC403953,EF488685,Y10746 NP_056723,NP_056670,NP_002375,NP_056669,NP_056671,AAD50371,EAW62962,EAW62963,EAW62964,EAW62965,EAW62966,EAW62967,BAD93002,AAC68870,AAD51442,AAD51443,AAD51444,AAD51445,CAD92308,BAF84208,AAH33242,ABP02056,CAA71735,Q9UIS9 Hs.405610 GDB:9392375 CXXC3|PCM1|RFT protein-coding 1312368 MBD2 methyl-CpG binding domain protein 2 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. 1580863 16428440,16168120,16052033,15701600,15489334,15456747,15112265,14688029,14610093,12665568,12646234,12588985,12477932,12388720,12177048,12124384,11960994,11756549,11710831,11553631,11297506,11102443,10950960,10441743,12183469,9774669,17688412,17634428,17360956,10947852,10471499,10444591,10050851,9804427,9790534,9610721,14633992,15674330,17353267,17081983,16998846,16951344 8932 CR615715,NM_003927,NM_015832,AC090666,AC093462,AF120988,AF120989,AF120994,CH471096,AF039701,AF072242,AF072246,AF072252,AL110266,BC032638,BE540652,BQ228712,CR592850,CR592999,CR603954,CR608921,CR615628 O60535,Q69YZ5,Q9UBB5,NP_003918,NP_056647,AAD56597,AAD56596,EAW62997,EAW62998,EAW62999,AAC18050,AAC68871,AAC68875,CAH10725,AAH32638 Hs.25674 GDB:9957906 DKFZp586O0821|DMTase|NY-CO-41 protein-coding 1316562 MBD3 methyl-CpG binding domain protein 3 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). However, unlike the other family members, MBD3 is not capable of binding to methylated DNA. The predicted MBD3 protein shares 71% and 94% identity with MBD2 (isoform 1) and mouse Mbd3. MBD3 is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. MBD3 mediates the association of metastasis-associated protein 2 (MTA2) with the core histone deacetylase complex. 1580863 9774669,12183469,17452452,16428440,15701600,15489334,15456747,15057824,14702039,12705869,12477932,12354758,12124384,11836615,11756549,11331609,11102443,10947852,10471500,10444591,10441743,9804427,9790534,2470348,15454082 53615 NM_003926,AC005943,CH471139,AF072247,AK001474,AK021532,AK290882,BC000872,BC009372,BC009438,BC018784,BC032443,BC043619,CR618268,X58233 NP_003917,AAC72104,EAW69477,EAW69478,EAW69479,EAW69480,EAW69481,AAC68876,BAF83571,AAH09372,AAH09438,AAH18784,AAH32443,AAH43619,CAA41191,O95983,Q8WV36 Hs.178728 GDB:9957904 protein-coding 1317930 MBD3L1 methyl-CpG binding domain protein 3-like 1 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein is localized to discrete areas in the nucleus, and expression appears to be restricted to round spermatids, suggesting that the protein plays a role in the postmeiotic stages of male germ cell development. 1580863 15489334,15456747,12920132,12504854,12477932 85509 NM_145208,AC008734,CH471106,AY038022,BC112058,BC112064 NP_660209,EAW83996,AAK72591,AAI12059,AAI12065,Q8WWY6 Hs.133912 MBD3L|MGC138263|MGC138269 protein-coding 1601828 MBD3L2 methyl-CpG binding domain protein 3-like 2 This gene encodes a protein that is related to methyl-CpG-binding proteins but lacks the methyl-CpG binding domain. The protein has been found in germ cell tumors and some somatic tissues. 15701600,12504854,12477932 125997 NM_144614,AC010606,CH471139,AF503919 NP_653215,EAW69051,AAM28154,Q8NHZ7 Hs.567667 GDB:11506229 protein-coding 1313885 MBD4 methyl-CpG binding domain protein 4 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene. 1580863 10097147,12702765,14667819,9774669,10583946,11937636,18162445,17360956,17285135,17143486,17049487,16831587,16803845,15989967,15899845,15489334,15205355,12926109,12477932,12430186,12220634,11836615,11056019,10930409,10545939,10499592,10441743,9823339,16189514 8930 NM_003925,AF120999,AF494057,AL449212,CH471052,AF072250,AF114784,AF532602,AM180876,BC011752,BC034463,CR450305,CR592808,CR619777 NP_003916,AAD50374,AAM00008,EAW79251,EAW79252,EAW79253,EAW79254,EAW79255,AAC68879,AAD22195,AAP97338,CAJ55826,AAH11752,CAG29301,O95243,Q2MD36 Hs.35947 GDB:9957902 MED1 protein-coding 1344111 MBD5 methyl-CpG binding domain protein 5 1580863 17847001,15489334,14702039,12529184,12477932,12421765,10819331 55777 NM_018328,AC016731,CH471058,AB040894,AK001975,AK055079,AK090496,BC014534,BC150264,CA449443,EF542797 NP_060798,AAY14912,EAX11550,EAX11551,EAX11552,BAA95985,BAA92013,AAH14534,AAI50265,ABQ18300,Q53SR1,Q9P267 Hs.458312 FLJ11113|FLJ30517|KIAA1461|MRD1 protein-coding 1322301 MBD6 methyl-CpG binding domain protein 6 1580863 14702039,12529184,12477932,11572484 114785 NM_052897,AC022506,CH471054,AB067474,AK056399,AK093078,AL834230,BC034295,BC040149,BC051370,BC065530,CR627478 NP_443129,EAW97024,EAW97025,EAW97026,BAB67780,BAB71176,BAC04045,CAD38908,AAH65530,CAH10678,Q6AHW5,Q6P0P0,Q96DN6 Hs.524523 KIAA1887 protein-coding 1314857 MBIP MAP3K12 binding inhibitory protein 1 1580863 10801814,16189514,15489334,12477932,11042152,1495496 51562 NM_016586,AL137226,CH471078,AB038523,AF208857,BC005197,BC016821,BX248287,CR590283,CR594524,CR610521 NP_057670,EAW65862,EAW65863,EAW65864,EAW65865,BAA94083,AAF64271,AAH05197,AAH16821,CAD62615,Q9NS73 Hs.368647 protein-coding 1343390 MBL1P1 mannose-binding lectin (protein A) 1, pseudogene 1 16115813,15716605,15458704,9501312 8512 NR_002724,AL512662,AF019382 Hs.102310 GDB:9955523 COLEC3P pseudo 735547 MBL2 mannose-binding lectin (protein C) 2, soluble (opsonic defect) This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. 1582151,1582150,1582153,1582154,1582155,1580863 11549596,11532276,10639434,10925294,1304173,18486762,18455525,18452612,18415846,18400978,18396436,18374983,18368489,18361938,18361935,18347304,18336595,18334024,18292811,18288881,18231631,18221301,18211540,18209939,18192915,18166320,18091754,18082567,18052966,18031556,17990579,17942372,17942155,17922403,17921115,17898783,17896801,17875183,17872904,17869647,17855170,17848669,17846289,17845414,17763324,17678865,17665457,17659761,17653692,17651383,17634432,17626901,17610322,17610319,17567900,17565323,17559949,17554527,17552055,17513174,17496053,17484222,17482281,17480019,17478467,17470593,17442954,17442667,17439930,17419286,17380431,17357060,17337399,17314117,17311505,17303612,17289451,17275645,17266113,17259116,17222001,17202308,17195187,17178888,17174748,17157384,17133182,17096357,17092257,17083312,17072973,18174230,17083310,17071626,17045187,17044201,17014624,16960176,16955210,16953214,16951387,16916656,16912583,16911830,16856624,16827883,16801331,16792667,16751976,16750996,16738667,16729310,16721783,16681863,16677572,16553818,16522396,16517152,16500704,16487239,16476012,16439442,16429424,16385529,16369192,16320344,16256117,16231358,16220211,16216673,16214215,16208516,16200716,16185324,16178865,16170752,16152689,16115848,16112196,16110781,16105157,16102832,16099912,16099048,16083697,16046196,16034120,16029433,16006058,15994813,15888042,15857180,15855341,15853952,15838797,15829302,15829288,15790942,15753758,15742161,15730518,15728497,15723707,15697204,15674393,15653690,15647440,15645196,15627619,15592292,15535834,15516675,15489334,15488604,15480986,15472209,15467537,15381817,15381182,15306844,15127191,15101708,15061663,14994386,14764589,14739370,14669753,14582818,14564351,12957407,12934195,12921293,12918709,12847552,12770793,12761563,12715245,12699957,12672193,12651071,12648279,12641410,12640191,12595908,12560567,15295097,15292002,15254284,15249448,15161763,15148337,15144709,12517417,12492252,12485445,12477932,12472676,12439623,12393699,12375325,12370377,12175909,12047967,11986203,11906616,11891230,11804586,11781711,11737072,11712863,11564800,11560994,11487077,11393663,11361219,11302870,11274270,11255386,11196698,11196679,11145046,11134351,11023480,10888598,10878362,10578050,10447262,10368295,9799711,9743385,9570553,9476117,9087411,8206524,8062452,7982896,7707811,7634089,2590164,2477486,2450948,1675710,1672848,1458688,1303250,12487819,16094691,15572157,15117456,12941144,10725420,8666845,8267903 1582151,1582150,1582153,1582154,1582155 4153 NM_000242,AB025350,AF080508,AF080510,AF482699,AF482700,AL731550,CH471083,CS251180,DQ217939,EU596574,X15954,Y16576,Y16577,Y16578,Y16579,Y16580,Y16581,Y16582,AF360991,AY826184,BC069338,BC096179,BC096180,BC096181,BC096182,X15422 NP_000233,BAB17020,AAC31937,AAN39274,AAN39275,CAI17084,EAW54148,EAW54149,CAJ58412,ABB01009,ACC62880,CAA34079,CAB56044,CAB56120,CAB56045,CAB56121,CAB56122,CAB56123,CAB56124,AAK52907,AAV80468,AAH69338,AAH96179,AAH96180,AAH96181,AAH96182,CAA33462,P11226,Q4VB12,Q4VB13,Q5SQS3,Q9HCS8 Hs.499674 GDB:120167 COLEC1|HSMBPC|MBL|MBP|MBP1|MGC116832|MGC116833 mannose-binding protein c (liver) protein-coding 1606580 MBNL1 muscleblind-like (Drosophila) 10970838,17942744,17846170,16946708,16920640,16394256,16273094,15961406,15546872,15257297,14722159,12477932,11929853,11590133,11433021,9455477,8889548 4154 NM_021038,NM_207292,NM_207293,NM_207297,NM_207296,NM_207295,NM_207294,AC026347,AC106722,CH471052,AB007888,AF255334,AF395876,AF401998,AF497718,AW204030,BC005296,BC043493,BC050535,BM686432,BQ223290,BX537491,CR603447,CR749454,Y13829,AF497719,AI971426,AJ308400 NP_066368,NP_997175,NP_997176,NP_997180,NP_997179,NP_997178,NP_997177,EAW78775,EAW78776,EAW78777,EAW78778,EAW78779,EAW78780,EAW78781,EAW78782,EAW78783,BAA24858,AAF76138,AAK82889,AAK94915,CAC83727,AAH05296,AAH43493,AAH50535,CAH18290,CAA74155,Q68DD0,Q86UV8,Q86UV9,Q86VM6,Q96P92,Q96RE3,Q9BS62,Q9NR56,ABZ92514,AAP30727,AAP30726 Hs.478000,Hs.558914 DKFZp686P06174|EXP|EXP35|EXP40|EXP42|KIAA0428|MBNL protein-coding 1315628 MBNL2 muscleblind-like 2 (Drosophila) This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. 16273094,15489334,15257297,15057823,12477932,11991713,11929853 10150 NM_144778,NM_207304,AL161430,AL442067,CH471085,AF061261,AF339782,AF491866,AK291727,AK315844,AY101770,BC020418,BC020430,BC032426,BC104038,BC104039,BC104040,BE246602,CA429672,CR608033,CR749802 NP_659002,NP_997187,CAI39495,CAI39497,EAX08968,EAX08969,EAX08970,EAX08971,AAC67242,AAM09798,BAF84416,BAF98735,AAM50085,AAH20418,AAH32426,AAI04039,AAI04040,AAI04041,CAH18662,O95205,Q5VZF2,Q9P1F2,ABZ92286 Hs.657347 DKFZp781H1296|MBLL|MBLL39|MGC120625|MGC120626|MGC120628|PRO2032|RP11-128N14.1 protein-coding 1603984 MBNL3 muscleblind-like 3 (Drosophila) 17102799,15772651,15489334,15257297,14702039,12477932,12297108,11929853,10970838 55796 NM_018388,NM_133486,AL050310,CH471107,AB077698,AB077699,AF467070,AF491305,AJ427918,AJ427919,AK002178,AL133625,AY072692,AY372211,BC042090,BC074775,BC074776,CR624180 NP_060858,NP_597846,CAI43101,CAI43102,CAI43105,CAI43106,CAI43107,CAI43108,EAX11778,EAX11779,EAX11780,BAB85648,BAB85649,AAL87670,AAM09533,CAD20869,CAD20870,BAA92124,CAB63751,AAL65661,AAQ75759,AAH42090,AAH74775,AAH74776,Q5JXP0,Q5JXP1,Q5JXP5,Q8IUR4,Q9NUK0,ABZ92515 Hs.105134 CHCR|FLJ11316|MBLX|MBLX39|MBXL protein-coding 1322766 MBOAT1 membrane bound O-acyltransferase domain containing 1 MBOAT1 shares structural similarity with a superfamily of membrane-bound O-acetyltransferases that transfer organic compounds, usually fatty acids (e.g., cholesterol, diacylglycerol, palmitoyl), onto hydroxyl groups of membrane-embedded targets (Dauwerse et al., 2007 [PubMed 17440500]).[supplied by OMIM] 737633 17890783,17440500,15489334,14702039,14574404,12477932 737633 154141 NM_001080480,AL008627,AL158198,AL355139,AB305043,AK093994,AK131269,BC045695,BC150652 NP_001073949,CAH71585,CAI20913,BAF93899,BAC04264,BAD18447,AAI50653,Q6ZNC8,AAI56594 Hs.377830 LPEAT1|MGC44669|OACT1|dJ434O11.1 o-acyltransferase (membrane bound) domain containing 1 protein-coding 1314050 MBOAT2 membrane bound O-acyltransferase domain containing 2 737633 17890783,16303743,15489334,14702039,12477932,9110174,8619474 737633 129642 NM_138799,AC012495,AC112723,CH471053,AB305044,AF052107,AK027321,AK074779,BC016005,BC157827 NP_620154,EAX01013,BAF93900,BAC85105,BAC11204,AAH16005,AAI57828,Q6ZWT7 Hs.467634,Hs.593538 FLJ14415|FLJ90298|LPCAT4|OACT2 o-acyltransferase (membrane bound) domain containing 2 protein-coding 1602605 MBOAT4 membrane bound O-acyltransferase domain containing 4 18443287 619373 XM_001125855,XM_940502,XM_001717299,AC026979,CH471080,AF359269,EU518495 XP_001125855,XP_945595,XP_001717351,EAW63467,AAK43717,ACB05873,Q96T53 Hs.627194 FKSG89|GOAT|OACT4 protein-coding 1604396 MBOAT5 membrane bound O-acyltransferase domain containing 5 18195019,16541075,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,10446276,9074930,8723724 10162 NM_005768,AC006512,CH471116,U47924,AK058063,AK096775,AU125262,BC000664,BC065194,BT007000,BX647983,BX648009,CR626226,U72515 NP_005759,EAW88691,EAW88692,EAW88693,AAB51326,AAH00664,AAH65194,AAP35646,AAC51640,Q0JTL3,Q6P1A2,CAL38149 Hs.655248 C3F|LPCAT3|OACT5|nessy protein-coding 1353967 MBOAT7 membrane bound O-acyltransferase domain containing 7 18094042,14702039,12477932,10941842,8702217 79143 NM_024298,AC012314,CH471135,CU151838,CU457734,AF211969,AK055908,AK122789,BC002512,BC003164,BC006309,BC015857,CR592172,CR594504,CR610174,EU016381,S82470 NP_077274,EAW72199,EAW72200,EAW72201,EAW72202,CAQ09592,CAP19119,CAP19120,CAP19121,CAP19122,BAB71043,AAH02512,AAH03164,AAH06309,AAH15857,ABV66273,AAB37433,Q96N66 Hs.467279 BB1|LENG4|LPIAT|hMBOA-7 protein-coding 736262 MBP myelin basic protein The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. 1358488,1580863,1358773 12101123,11964256,11940329,11875070,11864968,11683387,11641781,11402450,11295122,11152681,11124993,11080454,10980603,10523312,10390541,10383403,10339476,9873047,9792705,9782128,9207191,9136767,9020143,8889548,8786845,8544862,7685161,7574672,7544282,6201481,6083474,5128665,4924231,4108501,4099924,2472816,2467009,2466844,2449425,2442403,2437795,2427738,2426402,2434243,7504278,18067995,17823288,17690840,17622942,17415991,17351112,17259179,17081983,16900754,16871440,16842822,16713569,16441258,16412431,16387849,16216881,16079912,15728454,15489334,15009677,14743429,14714495,14702039,14594813,14579272,12965257,12939427,12618862,12477932,12377379,12237860,2425357,2414074,2413024,1689270,11500515,10910078,10947953,9155018,9628874,7665586,8798720,15797222,8647104 1358488,1358773 4155 NM_001025092,NM_001025090,NM_002385,NM_001025081,NM_001025100,AC018529,AC093330,CH471117,NM_001025101,CQ846348,CS255751,L18862,L18864,L18866,L41657,M63599,X17286,AB208986,AK074315,AK093588,AK094611,AK095121,AK098402,AK098513,AK122594,AK123433,AK124830,AK126858,AK128770,AK128788,AK289893,BC008749,BC030093,BC065248,BC068550,BC080654,BC101771,BC101773,BC130034,BG766942,BM977768,BU430656,CB153535,CB156561,CR536534,CR541919,CR594138,CR596562,CR597532,CR598393,CR608490,CR620021,CR627018,L18865,M13577,M20009,M30047,M30515,M30516,N20370 NP_001020272,NP_001020263,NP_001020261,NP_002376,NP_001020252,NP_001020271,EAW66592,EAW66593,EAW66594,EAW66595,EAW66596,EAW66597,EAW66598,EAW66599,EAW66600,CAH10321,CAJ75954,AAA72008,AAA72011,AAC41944,AAA59560,CAA35179,BAD92223,BAC85616,BAC85961,BAC86724,AAA72009,BAF82582,AAH08749,AAH65248,AAH80654,AAI01772,AAI01774,CAG38771,CAG46717,CAH10359,AAA72010,AAA59562,AAA59561,AAA59559,AAA59564,AAA59563,P02686,Q6ZT70,Q6ZVA1 Hs.551713 GDB:119379 MGC99675 protein-coding 1351867 MBS1 Moebius syndrome 1 1870098 4156 GDB:128365 1348518 MBS2 Moebius syndrome 2 8872479 7880 GDB:9955797 1346632 MBS3 Moebius syndrome 3 10441582 22811 GDB:9957145 1348935 MBTD1 mbt domain containing 1 1580863 15146197,12477932 54799 NM_017643,AC005839,AC006141,CH471109,AK000062,AK124061,AL133577,BC034364,BC101736,BQ022382,BU195532,CN310792 NP_060113,EAW94560,EAW94561,EAW94562,BAA90919,BAC85763,AAH34364,AAI01737,Q05BQ5 Hs.656803 FLJ20055|FLJ42067|MGC126785|SA49P01 protein-coding 732575 MBTPS1 membrane-bound transcription factor peptidase, site 1 The encoded protein has a central role in the regulation of lipid metabolism in cells. It is a sterol-regulated subtilisin-like serine protease that cleaves ER membrane-bound sterol regulatory element-binding proteins (SREBPs), a reaction that initiates the two-step proteolytic process by which transcriptionally active fragments of SREBPs are released from the membrane for translocation to the nucleus. The gene product is an integral membrane ER protein, with the bulk located in the ER lumen. It is synthesized as an inactive preproprotein that is self-activated by an intramolecular cleavage that generates the mature protein. 1580863 15299016,14702039,12477932,11821395,11756446,11163209,11152678,10944850,10644685,10619424,10428865,10428864,9990022,9139737,9070434,7788527,16189514,9809072,17898072,17867930,16973377,15489334 8720 NM_003791,AC040169,CH471114,AK054744,AK091212,AK291773,AL133583,AL701753,BC026330,BC114555,BC114961,BM048055,BX472644,CR590684,D42053 NP_003782,EAW95505,EAW95506,BAF84462,CAB63727,AAI14556,AAI14962,BAA07653,Q14703,Q8TAN4 Hs.75890 GDB:11500643 KIAA0091|MGC138711|MGC138712|PCSK8|S1P|SKI-1 membrane-bound transcription factor protease, site 1 protein-coding 1342985 MBTPS2 membrane-bound transcription factor peptidase, site 2 1580863 9659902,15772651,15299016,12477932,11850408,11795864,11163209,10805775,10419520,9847074 51360 NM_015884,CH471074,U72788,U73479,AF019612,AK292933,BC036465 NP_056968,EAW98982,AAD08631,AAD08632,AAC51937,BAF85622,AAH36465,O43462,Q8N486 Hs.585245 GDB:11500869 S2P protein-coding 1323826 MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. 1600618,1600619,1580863 17397031,17371441,17317724,17316231,17279550,17222061,17130136,17072629,16988943,16982779,16914085,16877522,17434924,16864968,16809487,16721784,16645598,16601669,16567973,16463023,16420249,16417234,16081629,9571181,7581459,18483556,18402696,18368129,18282185,18222116,18094732,18067130,18006116,17960564,17960121,17952075,17916200,17616515,17570052,17496785,17487313,11710950,11689486,11707265,11532853,11511307,11500806,11500805,11499678,11487744,11487574,11454772,11442765,11305330,11254446,11179997,11041375,10942578,10885670,10816645,10462496,10101176,9861445,9665397,9640562,9373149,9302268,9058374,9017363,8990005,8894704,8706868,8605020,8463333,8458079,8188275,8125298,8098743,7949735,1516719,1325670,15998953,15994880,15972726,15957185,15889046,15726415,15650023,15582585,15489334,15482480,15470082,15358786,15305821,15221796,15210908,15159314,15105175,15009732,15009725,14757863,14702039,12950734,12930311,12883368,12876664,12859622,12851329,12839583,12817591,12753400,12663858,12653999,12620396,12579416,12477932,12473109,12453185,12439754,12244039,12204775,12177778,12165561,12006619,11933208,11750130,11720436 1600618,1600619 4157 NM_002386,AB026663,AB241540,AB241544,AB241548,AB241550,AB241551,AC092143,AF153431,AF153432,AF153433,AF153434,AF153435,AF153436,AF153437,AF263461,AF326275,AF514787,AY046528,AY046529,AY225228,AY363619,AY363620,CH471184,X65634,AK024232,AK054666,AK225902,BC007856,BC080622,BE388038,X67594 NP_002377,BAE94306,BAE94310,BAE94314,BAE94316,BAE94317,AAD41349,AAD41350,AAD41351,AAD41352,AAD41353,AAD41354,AAD41355,AAK58525,AAK01121,AAM44861,AAL05887,AAL05888,AAO67713,AAQ62969,AAQ62970,EAW66676,CAA46588,AAH07856,AAH80622,CAA47865,Q01726,Q1JUL4,Q1JUM5,Q66K38,Q6UR99,Q6URA0,ABM87596,ABM84193 Hs.513829 GDB:135162 MGC14337|MSH-R|SHEP2 protein-coding 1348934 MC2R melanocortin 2 receptor (adrenocorticotropic hormone) MC2R encodes one member of the five-member G-protein associated melanocortin receptor family. Melanocortins (melanocyte-stimulating hormones and adrenocorticotropic hormone) are peptides derived from pro-opiomelanocortin (POMC). MC2R is selectively activated by adrenocorticotropic hormone, whereas the other four melanocortin receptors recognize a variety of melanocortin ligands. Mutations in MC2R can result in familial glucocorticoid deficiency. 1580863,1600745,1600747 9175632,18359160,18356748,18319660,18197087,17959886,17877367,17712720,17595257,17456795,17223989,16497811,16260430,15879363,15654338,15489334,15240582,15171714,15062562,14671214,12620396,12530626,12477932,12456795,12213892,10971458,9218248,9194567,9058374,9020063,8636348,8463333,8390157,8276410,8227361,8094489,1325670,9167964 1600745,1600747 4158 NM_000529,AB065915,AP001086,AY225229,CH471113,X65633,AK289381,BC069074,BC094710,BC104169,BC104170,Y10259 NP_000520,BAC06130,AAO67714,EAX01503,CAA46587,BAF82070,AAH69074,AAH94710,AAI04170,AAI04171,Q01718 Hs.248144 GDB:135163 ACTHR|MGC125798 protein-coding 1345990 MC3R melanocortin 3 receptor This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. 1625179,1580863,1625178 8175743,8463333,18420963,18231126,17964765,17639020,17482720,17413091,17192297,17041250,16430209,16314751,16123355,15636422,15597110,15582585,15489334,15470082,15292330,15276649,12532156,12477932,12161058,12142547,12077332,12047904,11889220,11780052,11747427,11397906,11140838,9893984,9658201,9237634,9213373,9058374,8957262,8276410,7949735 1625179,1625178 4159 NM_019888,AL139824,CH471077,CS248086,L06155,AY227893,BC069105,BC069591,BC069599,BC096702,BC096737,BC098169,BC098351 NP_063941,CAC15480,EAW75566,CAJ56570,AAC13541,AAO72726,AAH69105,AAH69599,AAH96702,AAH96737,AAH98169,AAH98351,P41968 Hs.248018 GDB:138780 MC3|MC3-R 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,1643376,1643383,1643385,1643396,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW305_H,BW312_H,BW311_H,BW306_H,BW177_H,BW178_H protein-coding 733058 MC4R melanocortin 4 receptor 1600752,1600756,1580863,1600755,1331525,1600750,1357925,1626222 8794897,9771698,16614075,8392067,10585465,18461507,18454148,18454146,18377640,18239646,17986382,17941900,17822895,17713970,17590021,17587397,17579204,17545153,17519222,17517245,17492953,17482720,17445027,17418015,17376547,17356525,17322114,17286227,17185898,17041250,16886960,16820227,16710097,16611215,16507637,16459314,16344560,16279363,16278267,16231025,16114870,16081629,16032553,16030156,15951321,15865442,15821099,15805150,15597110,15585384,15533382,15489963,15489334,15486053,15470082,15466016,15448103,12364415,12244039,12165561,12140789,12045190,12032748,12015205,11912210,11823452,11747427,11692184,11487744,11443223,11101306,10318826,10199800,9771699,9763669,9392003,9058374,7949735,7854347,15292469,15215606,15126516,15037865,14973783,14764818,14764812,14671178,14633862,14531729,14523020,14504270,13678297,12970296,12959994,12815165,12732337,12690102,12646666,12646665,12639913,12629567,12620396,12588803,12499395,12477932 1600752,1600756,1600755,1331525,1600750,1357925,1626222 4160 NM_005912,AC091576,AY236539,CH471096,L08603,S77415,BC069172,BC101802,BC111992,DA362673 NP_005903,AAO92061,EAW63105,AAA35791,AAB33341,AAH69172,AAI01803,AAI11993,P32245 Hs.532833 GDB:203939 MGC126851|MGC138197 1643553,1643573,1643583,2289640 ACTIV2_H,FOCO1_H,ACTIV1_H,BW510_H protein-coding 732421 MC5R melanocortin 5 receptor 1580863,1626222,1626223 7739752,17482720,16314755,15489334,15470082,12477932,11606131,11286624,9892020,9240466,9058374,8932521,8396929,8185570,8179577,7956366 1626222,1626223 4161 NM_005913,AP001525,AY268429,CH471113,EF444993,L27080,U08353,Z25470,BC069153,BC069545,BC095531 NP_005904,AAP23196,EAX01504,ACA06012,AAA59566,AAB60376,CAA80962,AAH69153,AAH69545,AAH95531,P33032,Q502V1 Hs.248145 GDB:265295 protein-coding 732868 MCAM melanoma cell adhesion molecule 1580863 8378324,18175063,17982057,17872908,17786470,17545460,17490776,17320204,17081983,16969099,16835268,16804906,16570276,16541130,16204154,16098047,15897668,15610525,15489334,14702039,14597988,14534536,12771231,12496470,12477932,12406332,11848444,11722842,11709656,11536311,11036077,10756096,10726166,10702685,10687524,10451481,10211875,9756930,9730695,9462829,9036955,8573133,8292890,8162602,2602381 4162 NM_006500,AP002956,CH471065,X68264,X68271,AB209925,AF089868,AK126303,AK128335,AK291571,AU076908,BC056418,CR619421,CR625352,M28882,M29277 NP_006491,EAW67477,EAW67478,CAA48332,BAD93162,AAD17799,BAC86520,BAF84260,AAH56418,AAA20922,AAA20824,P43121 Hs.599039 GDB:304548 CD146|MUC18 l-gicerin protein-coding 1313070 MCART1 mitochondrial carrier triple repeat 1 737633,1580863 15489334,15342556,15164053,14702039,12477932 737633 92014 CR607834,CR609001,NM_033412,AL138752,CH471071,AK091407,AK098185,BC008500,BC063563,BP363489 Q9H1U9,NP_219480,CAC22316,EAW58258,EAW58259,EAW58260,AAH08500 Hs.645492 CG7943|MGC14836 protein-coding 1319971 MCART2 mitochondrial carrier triple repeat 2 This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. 16344560,15489334,12477932 147407 DB057843,NM_001034172,AC022960,BC103999,BC104000,BC104001 Q3SY17,NP_001029344,AAI04000,AAI04001,AAI04002 Hs.567708 MGC120230|MGC120231|MGC120232 protein-coding 1352634 MCART3P mitochondrial carrier triple repeat 3 pseudogene 285801 XM_209767 1343151 MCART4P mitochondrial carrier triple repeat 4 pseudogene 386650 1352025 MCART5P mitochondrial carrier triple repeat 5 pseudogene 404023 1603463 MCART6 mitochondrial carrier triple repeat 6 15772651 401612 NM_001012755,AL135959,CH471120,Z82254,AL833609,BC035919,BC140812,BC140814 NP_001012773,EAX02763,AAI40813,AAI40815,Q5H9E4 Hs.660022 DKFZp686O1267 protein-coding 1607045 MCAT malonyl CoA:ACP acyltransferase (mitochondrial) The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Two transcript variants encoding different isoforms have been found for this gene. 12882974,16806233,16434556,16344560,15489334,12529303,12477932,10591208 27349 NM_014507,NM_173467,CH471138,AI811069,AL359401,AL359403,BC030985,BC042195,BI464466,BX111669,CA422238,CR599689,CR604802,DB306307 NP_055322,NP_775738,EAW73286,EAW73287,CAB94789,CAB94790,AAH30985,AAH42195,Q8IVS2 Hs.349111 FASN2C|MCT|MGC47838|MT|fabD protein-coding 1351997 MCC mutated in colorectal cancers This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. 1300441,1580863 14743216,17353931,1848370,16381901,15489336,15489334,14702039,12477932,11230166,11076863,8889548,8626604,8012355,1846539,1651563,1315124 1300441 4163 NM_001085377,NM_002387,AC008536,AC010431,AC079465,AC093208,AC106750,AC126917,CH471086,AK096212,AK128596,AL359558,BC009279,BC018919,BC043431,BX647710,CF887436,CR749713,M62397,BX537952 NP_001078846,NP_002378,EAW48984,EAW48985,EAW48986,EAW48987,BAC87521,AAH09279,AAH18919,CAD97919,AAA52069,P23508,Q0JSM6,Q6ZR04,Q7Z3E9,CAL38488 Hs.593171 GDB:128163 DKFZp762O1615|FLJ38893|FLJ46755|MCC1 protein-coding 1321620 MCCC1 methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. 1580863 11401427,11170888,17968484,16023992,16010683,15489334,14702039,12477932,11406611,11181649,1517917 56922 NM_020166,AC104641,AC108741,CH471052,AB029826,AB209737,AF297332,AF310339,AF310972,AK023051,AK098411,AL442091,AL532496,BC004187,BC004214,BC036395,BC042453,BF795651,CR625136,CR749608 NP_064551,EAW78339,EAW78340,BAA99407,BAD92974,AAK67986,AAG50245,AAG53095,BAB14377,AAH04187,AAH04214,CAH18403,Q68D27,Q96RQ3 Hs.47649 GDB:135989 DKFZp686B20267|FLJ25545|MCC-B|MCCA protein-coding 1352586 MCCC2 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. 1580863 11170888,11181649,17968484,17876819,16023992,16010683,15489334,15146197,14702039,12477932,11406611,11401427 64087 CN309723,BC065027,NM_022132,AB050050,AC138832,AC143336,CH471084,AB050049,AF261884,AF301000,AF310971,AK025591,AK090834,AL079298,BC014897 Q9HCC0,AAH65027,NP_071415,BAB41121,EAW95691,EAW95692,EAW95693,BAB16880,AAK49409,AAK16404,AAG53094,CAB45194,AAH14897 Hs.604789 GDB:135990 MCCB protein-coding 1352481 MCCD1 mitochondrial coiled-coil domain 1 14574404,14527716,12477932 401250 NM_001011700,AL662801,AL662847,AL663061,BX001040,BX682535,CT009531,BC132994,BC132996,BN000141 NP_001011700,CAM26153,CAQ09734,AAI32995,AAI32997,CAD71139,P59942 Hs.558922 protein-coding 1342844 MCDR1 macular dystrophy, retinal, 1 (North Carolina type) 4167 GDB:131406 1345546 MCDR2 macular dystrophy, retinal 2 317667 1348819 MCDR3 macular dystrophy, retinal 3 317668 1320595 MCEE methylmalonyl CoA epimerase The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. 11481338,17823972,16843692,16752391,16697227,15489334,12477932 84693 NM_032601,AC007881,CH471053,AB209469,AF364547,AI033764,BC020825,BM271757,CR624276 NP_115990,AAY14749,EAW99778,BAD92706,AAK52052,AAH20825,Q53TP1,Q96PE7,ABM82301,ABM85479 Hs.94949 GDB:11500872 GLOD2 protein-coding 1345996 MCF2 MCF.2 cell line derived transforming sequence MCF2 is a member of a large family of GDP-GTP exchange factors that modulate the activity of small GTPases of the Rho family. Five-prime recombinations result in the loss of N-terminal codons, producing MCF2 variants with oncogenic potential.[supplied by OMIM] 1580863 3056717,3281159,17606614,17538024,16344560,15772651,13679059,12445822,12376551,11907027,11134331,11062019,10925207,10854437,10652228,10518015,8276860,3491366,2613238,2577874,2065022,1611909 4168 DA326503,DA391685,DC298193,J03639,X12556,X13230,AL117234,NM_001099855,NM_005369,AL033403,AL161777,CH471150,AB085901,AB085902 AAA52172,CAA31069,CAA31617,P10911,Q59EY2,Q5JU92,Q5JYJ2,Q5JYJ3,Q5JYJ5,Q5JYJ6,CAB55301,NP_001093325,NP_005360,CAA21955,CAI42104,CAI42105,CAI42106,CAI42107,CAI42108,EAW88426,EAW88427,EAW88428,EAW88429,EAW88430,BAC41200,BAC41201 Hs.387262 GDB:120168 DBL protein-coding 737008 MCF2L MCF.2 cell line derived transforming sequence-like 1580863 17562712,16344560,15531584,15157669,14702039,14701795,12477932,12376551,12147231,12006984,11889037,9205841,7957046 23263 NM_001112732,AL137002,AL162454,AL356740,AL596093,CH471085,AB002360,NM_024979,AB116074,AB116075,AF086413,AK022184,AK057899,AK092739,AK094768,AK123267,BC011853,BC020208,BC107066,BC107067,BX648279,DA114166,DA313448,DA769805 NP_079255,NP_001106203,CAI41383,CAI41390,CAI41392,CAI95400,CAI39869,CAI39870,CAI39871,CAI95103,CAH70243,CAH70244,CAH70245,CAI94923,CAI39523,CAI39524,CAI39525,CAI94928,CAM13087,CAM13088,EAX09175,EAX09176,EAX09177,EAX09178,EAX09179,EAX09180,BAA20817,BAD08351,BAD08352,BAB13980,BAB71611,BAC03961,BAC85569,AAH11853,AAH20208,AAI07067,AAI07068,O15068,Q3B838,Q3B839,Q8NAF9,Q96LQ9,Q9HA75,ABM82967,ABM86159 Hs.170422,Hs.597691 GDB:9785697 ARHGEF14|DBS|FLJ12122|KIAA0362|OST protein-coding 1352917 MCF2L2 MCF.2 cell line derived transforming sequence-like 2 1580863 18259684,12477932,12421765,10048485 23101 NM_015078,AC069417,AC092960,AC104641,AC112647,CH471052,AB020668,AK124500,AY172737,BC029074,BC064632,BM920156,BX647790,BX649003 NP_055893,EAW78329,EAW78330,EAW78331,EAW78332,BAA74884,BAC85866,AAO19651,AAH29074,AAH64632,Q86YR7 Hs.584868 DKFZp686K0690|FLJ42509|KIAA0861 protein-coding 1350244 MCFD2 multiple coagulation factor deficiency 2 18391077,18056485,17610559,17010120,16044454,15886209,15815621,15489334,15292203,14702039,12832409,12717434,12477932,10090935,10090934,2463956 90411 NM_139279,AC016722,CH471053,CS208035,AF475284,AF537214,AK095006,AK292127,AL833900,BC037845,BC040357,BI553070,CR607097,CR749562,M23161 NP_644808,AAY15013,EAX00230,EAX00231,EAX00232,EAX00233,CAJ44943,AAM28465,AAP23162,BAF84816,CAD38756,AAH37845,AAH40357,CAH18359,Q68D61,Q8NI22,ABM82030,ABM85211 Hs.293689 DKFZp686G21263|F5F8D|LMAN1IP|SDNSF protein-coding 1346657 MCFD2L multiple coagulation factor deficiency 2-like 645927 XM_928897,XM_940240,AL031118 XP_933990,XP_945333,CAB51754,Q9UJN8 C6orf44|NUCB2-L|dJ153G14.2 pseudo 733421 MCHR1 melanin-concentrating hormone receptor 1 The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. 1624359,1580863,1624360,704404 10860944,10421367,18198296,16741940,16186414,16039987,15941924,15928315,15590649,15489334,15461802,15340116,15166293,12220661,12176038,12127971,11839762,11478907,10591208,10441476,10421368,8977118,11416225,12208518,14632194,12865333,12620396,12477932 1624359,1624360 2847 NM_005297,CH471095,U71092,Z86090,AB063174,AF490537,AI934819,AY562945,AY745811,AY747629,BC001736,BC021146,BT006725,CR456497,CR593233,CR601249 NP_005288,EAW60387,EAW60388,AAC14587,CAI17933,BAB60890,AAO14670,AAS72373,AAV98052,AAV98053,AAH01736,AAH21146,AAP35371,CAG30383,Q5IFH6,Q5IFI4,Q99705,CAK54525,CAK54824,ABM84529,ABM85991 Hs.248122 GDB:4568201 GPR24|MCH1R|MGC32129|SLC1 somatostatin receptor-like protein protein-coding 1347761 MCHR2 melanin-concentrating hormone receptor 2 1580863 17698913,15941924,15489334,15340116,15229878,14702039,14574404,12620396,12477932,12127971,11839762,11478907,11459838,11416225,11404457,11355873,11274220 84539 NM_032503,NM_001040179,AL590725,CH471051,AB058849,AB060151,AF347063,AF399937,AK123634,AY029596,AY562946,BC038441,BC095515 NP_115892,NP_001035269,CAH70022,EAW48459,EAW48460,BAB87842,BAB55677,AAK32193,AAL05528,AAK38157,AAS72374,AAH95515,Q969V1 Hs.591342 GPR145|MCH2|MCH2R|SLT g protein-coupled receptor 145 2289234,2289252 BW142_H,BW141_H protein-coding 1347319 MCKD1 medullary cystic kidney disease 1 (autosomal dominant) 9536096 4169 GDB:9859381 1343881 MCKD2 medullary cystic kidney disease 2 (autosomal dominant) 10330352 10122 GDB:9955267 735512 MCL1 myeloid cell leukemia sequence 1 (BCL2-related) The protein encoded by this gene belongs to the Bcl-2 family. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. The longer gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene product (isoform 2) promotes apoptosis and is death-inducing. 7682708,8790944,18452656,18292181,18234961,18032706,18025305,18006817,17942758,17928528,17927446,17893147,17823113,17805325,17698840,17634558,17599053,17561513,17553788,17545167,17525735,17498302,17495975,17463001,17387146,10837489,17384650,17227835,17200126,17145774,17072336,17009247,16978419,15489334,15378010,15370246,15262975,15241487,15217829,15126604,15122313,15078892,15077116,15014070,14982947,14633975,12960271,12915532,12901848,12855556,12787138,12783855,12782407,12660820,12637318,12496428,12477932,12475993,12445202,12359245,12223490,12176902,12149273,12070027,12057933,11911971,11877256,11781193,11598139,11546872,11483855,11130466,10978339,10965038,10766760,10634649,15611089,15588513,15550399,10579309,9671497,9356461,7896880,7835896,15451437,15721256,16969094,16901898,16822835,16782027,16761109,16725198,16710414,16543145,16538501,16478725,16456709,16380381,16339575,16327976,16289418,16229017,16213503,16109713,16091744,16027162,16007132,15989957,15940637,15902294,15901672,15842635,15753661,15728130,15713684,15694340,15637055,15626746,15613543 4170 NM_182763,NM_021960,AF147742,AF162677,AF198614,AL356356,CH471121,DQ088966,AA453505,AF118124,AF118276,AF118277,AF118278,AF203373,BC017197,BC071897,BC107735,BT006640,CR610973,CR618814,CR621920,CR625890,L08246 NP_877495,NP_068779,AAF74821,AAG00896,AAF64255,AAF64256,CAI15503,CAI15504,EAW53538,EAW53539,EAW53540,EAW53541,AAY68220,AAD13299,AAF15309,AAF15310,AAF15311,AAG00904,AAH17197,AAH71897,AAI07736,AAP35286,Q07820,ABM92245,ABM84721 Hs.632486 GDB:139137 EAT|MCL1L|MCL1S|MGC104264|MGC1839|TM myeloid cell leukemia sequence 1 protein-coding 1322725 MCM10 minichromosome maintenance complex component 10 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. 11095689,12791985,12045100,15226314,15707391,17997981,17997977,17823614,17761813,17699597,16189514,15489334,15232106,15195143,15164054,15136575,14702039,12844493,12808023,12477932,11889827,11864598,11602595,11230166 55388 AAB34309,AAB34784 CH471072,AB042719,AF119869,AK055695,AK292701,AL136840,NM_182751,NM_018518,AL138764,AL355355,BC004876,BC009108,BC101727,CR620605 CAI16558,EAW86297,EAW86298,BAB18723,AAF69623,BAB70988,BAF85390,CAB66774,NP_877428,NP_060988,CAI12912,CAI12913,CAI16557,AAH04876,AAI01728,AAB34309,AAB34784,Q5T670,Q7L590 Hs.198363 GDB:11506231 CNA43|DNA43|MGC126776|PRO2249 mcm10 minichromosome maintenance deficient 10 (s. cerevisiae) protein-coding 1313689 MCM2 minichromosome maintenance complex component 2 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. 1580863 8175912,11095689,12791985,10846177,8798650,10436018,11931757,12045100,15226314,15707391,18249467,18248354,18184650,17940502,17557111,17512033,17081983,16964243,16899510,16882345,16864800,16722928,16629645,16609045,16446360,16169070,16083285,15766559,15654075,15635413,15489334,15345747,15302935,15236977,15232106,15210935,12966424,12805274,12740381,12694531,12614612,12480933,12477932,12392551,12207017,12119552,12087101,11872961,11864598,11568184,11472637,11278932,10748114,10567526,10523313,7842741,7584028,7584026,1710453,16189514,9642275,8258304 4171 NM_004526,AC023593,AY270230,AY675259,CH471052,AK128291,BC000300,BC006165,BC007670,BC007938,BC014272,BC017258,BC017490,BC030131,BM153020,BT009734,CR597081,CR605781,CR606960,CR617929,D21063,D83987,X67334 NP_004517,AAT70723,EAW79339,AAH00300,AAH06165,AAH07670,AAH07938,AAH14272,AAH17258,AAH17490,AAH30131,AAP88736,BAA04642,BAA12177,CAA47749,P49736,Q9BWF4,AAP88735 Hs.477481 GDB:224876 BM28|CCNL1|CDCL1|D3S3194|KIAA0030|MGC10606|MITOTIN|cdc19 mcm2 minichromosome maintenance deficient 2, mitotin (s. cerevisiae) protein-coding 1313036 MCM3 minichromosome maintenance complex component 3 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with, and thus is acetlyated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. 1580863 1549468,12364596,15232106,15654075,17353931,12791985,10436018,10846177,11095689,11931757,12045100,15226314,15707391,17244605,17081983,16964243,16537544,15766559,15671553,15635413,15623617,15489334,15302935,15210935,14574404,12614612,12477932,12226073,11258703,11248027,11046155,11024281,10780780,10733502,10464337,10454562,9843502,9712829,9373149,9250678,8798650,8631321,8265339,8125298,7760938,7758114,7705359,7622621,7615659,7601140,16189514,15236977,15775975 4172 X62153,NM_002388,AL034343,AY621074,CH471081,AK222586,AY032603,BC001626,BC003509,BI463632,CR592122,D38073 CAA44078,P25205,Q53HJ4,Q7Z6P5,Q8NHX6,ABM84580,ABM86766,NP_002379,CAB75298,CAD92644,AAT27321,EAX04366,EAX04367,BAD96306,AAK56392,AAH01626,AAH03509,BAA07267 Hs.179565 GDB:433797 HCC5|MGC1157|P1-MCM3|P1.h|RLFB mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) protein-coding 1315674 MCM3AP minichromosome maintenance complex component 3 associated protein The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. 1580863 9712829,16780588,15489334,15231748,14702039,12885157,12477932,12421765,12226073,12167160,11641399,11526238,11258703,11024281,10830953,10733502,9628581 8888 NM_003906,AP000471,AP001469,AY590469,CH471079,AB005543,AB011144,AJ010089,AK022303,AK026578,AK095181,AK126313,AK127239,BC004497,BC013285,BC104958,BC104960,CR604265 NP_003897,AAS89300,EAX09296,BAA25170,BAA25498,CAB52687,AAH04497,AAH13285,AAI04959,AAI04961,O60318,Q6PJP6,Q9BSY5 Hs.389037 GDB:9957540 FLJ44336|FLJ45306|GANP|KIAA0572|MAP80 mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein protein-coding 1352112 MCM3APAS minichromosome maintenance complex component 3 associated protein antisense 14702039,12477932,12036297 114044 NR_002776,AP001469,AF426262,AF426263,AK001370,AK054878,BC002458,BC016306,BC030022,BC047759,BC059792 Hs.655095 GDB:11500874 C21orf85|FLJ10508|MCM3APASB|MGC61921 mcm3 minichromosome maintenance deficient 3 (s. cerevisiae) associated protein antisense miscrna 735578 MCM4 minichromosome maintenance complex component 4 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. 15232106,12791985,9465298,10436018,10846177,11095689,11931757,12045100,15226314,15707391,8265339,17081983,17046832,17005684,16964243,16519687,16517729,15635413,15489334,15302935,15236977,15037254,14702039,12771218,12714602,12694531,12614612,12477932,12207017,11454864,11136247,10748114,10567526,9642275,9305914,9284934,8798650,8631321,7601140 4173 NM_005914,NM_182746,AC021236,AY588245,CH471068,U63630,U90415,AK022899,AM493756,BC031061,BM781972,BQ058022,CR598188,CR606514,X74794 NP_005905,NP_877423,AAS83108,EAW86684,EAW86685,EAW86686,AAC52018,AAB51723,CAM35476,AAH31061,CAA52801,P33991 Hs.460184 GDB:433798 CDC21|CDC54|MGC33310|P1-CDC21|hCdc21 mini chromosome maintenance deficient 4 homolog (s. cerevisiae) protein-coding 1315334 MCM5 minichromosome maintenance complex component 5 The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. 1580863 15226314,15707391,18181189,17988337,17940502,17557111,16341674,16199513,16189514,15696126,15635413,15489334,15461802,15324660,14743216,14702039,12614612,12477932,11839717,11248027,10591208,10327050,9843502,15232106,17353931,12791985,8751386,10436018,10846177,11095689,11931757,12045100,9373149,9223437,8798650,8265339,8125298,7705359,9099751,15236977 4174 AY212028,CH471095,AB209612,AK122853,AK130620,AK223323,AK291136,BC000142,BC003656,BM787690,NM_006739,CR456517,CR591959,CR592264,CR601762,CR611599,CR612297,CR615349,CR617289,D83986,X74795 NP_006730,AAO21127,EAW60060,EAW60061,EAW60062,EAW60063,BAD92849,BAD97043,BAF83825,AAH00142,AAH03656,CAG30403,BAA12176,CAA52802,P33992,Q53FG5,Q59F49,CAK54548,CAK54847 Hs.517582 GDB:433799 CDC46|MGC5315|P1-CDC46 mcm5 minichromosome maintenance deficient 5, cell division cycle 46 (s. cerevisiae) protein-coding 1352854 MCM6 minichromosome maintenance complex component 6 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. 1580863 9286856,15232106,12791985,10436018,10846177,11095689,11931757,12045100,15226314,15707391,17911653,17410335,17159977,16964243,16344560,16189514,15635413,15489334,12771218,12694531,12614612,12477932,12192004,11788828,11136247,10748114,10567526,10327050,9516426,9305914,8977093,8921380,8798650,12207017,15236977 4175 NM_005915,AC011893,AC011999,AY220757,CH471058,U67281,U67282,U67283,U67284,AU124893,BC008774,BC020268,BC032374,D84557,U46838 NP_005906,AAX88925,AAY15028,AAO26043,EAX11621,AAB48165,AAH32374,BAA12699,AAC50766,Q14566,Q4ZG57,Q53T61 Hs.444118 GDB:1316854 MCG40308|Mis5|P105MCM mcm6 minichromosome maintenance deficient 6 (mis5 homolog, s. pombe) (s. cerevisiae) protein-coding 1347363 MCM7 minichromosome maintenance complex component 7 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 15538388,10518787,16438930,12791985,8798650,10436018,10846177,11095689,11931757,12045100,15226314,15707391,17557111,17310990,17094475,16703398,16289477,16247466,16189514,15720416,15654075,15635413,15489334,15232106,15210935,14743216,14702039,14678972,14550576,14516785,12771218,12694531,12690205,12614612,12519773,12477932,12207017,11861392,11056214,10748114,10722676,10649446,10567526,10473096,10464337,9714754,9566894,9305914,9133452,9110174,9099751,8652665,8631321,8626784,8619474,9852095,8265339,8258304,7842741,7601140,1710453,17353931,15236977 4176 CR603902,CR594412,CR604613,CR603541,CR605715,CR608168,CR611015,CR617217,CR617430,CR617870,D28480,D55716,X74796,NM_005916,NM_182776,AB004270,AC073842,CH236956,CH471091,AF279900,AI083651,AK055379,AK096959,AK226175,AY007130,BC009398,BC013375 BAA05839,BAA09534,CAA52803,P33993,Q9BXV1,Q9H4N9,ABM86873,ABW03896,NP_005907,NP_877577,EAL23855,EAL23856,EAW76598,EAW76599,EAW76600,AAK07555,AAG01994,AAH09398,AAH13375 Hs.438720 GDB:433796 CDABP0042|CDC47|MCM2|P1.1-MCM3|P1CDC47|P85MCM|PNAS-146 mcm7 minichromosome maintenance deficient 7 (s. cerevisiae) protein-coding 1313114 MCM8 minichromosome maintenance complex component 8 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the MCM proteins. This protein has been shown to co-immunoprecipitate with MCM4, 6 and 7, which suggests that it may interact with other MCM proteins and play a role in DNA replication. Alternatively spliced transcript variants encoding distinct isoforms have been described. 12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,15489334,14702039,12771218,12527764,12477932,11780052,8889548 84515 NM_182802,NM_032485,AL035461,CH471133,AI200387,AJ439063,AK027644,AK160378,AY158211,BC005170,BC008830,BC080656,BC101054,BC101055,BC101056,BC101057,BM664368 NP_877954,NP_115874,CAB55276,CAI23480,EAX10403,EAX10404,EAX10405,CAD27750,BAB55260,BAD18721,AAO21222,AAH08830,AAH80656,AAI01055,AAI01056,AAI01057,AAI01058,Q495R6,Q6ZMK4,Q9UJA3 Hs.631506 C20orf154|MGC119522|MGC119523|MGC12866|MGC4816|REC|dJ967N21.5 mcm8 minichromosome maintenance deficient 8 (s. cerevisiae) protein-coding 1313696 MCM9 minichromosome maintenance complex component 9 This gene encodes a protein that shares similarity with minichromosome maintenance (MCM) proteins, which are known to be essential for initiation of DNA replication. 16495042,16226853,15850810,14702039,14574404,12477932 254394 NM_153255,AL132874,CH471051,AK000177,AK122665,BC024976,BC031658,BN000882,BX649114,DB476942 NP_694987,CAC05409,CAI42606,CAI42607,CAI42609,EAW48191,EAW48192,BAA90991,AAH31658,CAJ70648,Q5JW37,Q5JW39,Q9NXL9,Q5JW40,ABM83391,ABM86604 Hs.279008,Hs.486315 C6orf61|FLJ13942|FLJ20170|MCMDC1|MGC35304|dJ329L24.1|dJ329L24.3 minichromosome maintenance deficient domain containing 1 protein-coding 1349273 MCO microphthalmia (Los Angeles type) 4178 GDB:118837 1319026 MCOLN1 mucolipin 1 1599926,1580863 11030752,11013137,18264947,17988215,17924347,17306511,17239335,16978393,16645217,16606612,16517607,16382100,16361256,16287144,16257972,16133264,15523648,15489334,15345747,15336987,15178326,15070744,14749347,14702039,12477932,12459486,12182165,12125810,11845410,11318610,11317355,10973263,10441585,9373149,8125298 1599926 57192 NM_020533,AC008878,AF287270,AF305579,CH471139,AF171088,AF249319,AF287269,AJ293659,AJ293970,AK026102,AK222673,BC005149,CR616477,CR622331 NP_065394,AAG00798,AAG42242,EAW69031,EAW69032,EAW69033,EAW69034,AAQ13604,AAG10422,AAG00797,CAC07813,CAC08215,BAB15360,BAD96393,AAH05149,Q53HA8,Q9GZU1,ABM82770,ABM85958 Hs.631858 GDB:10013974 ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1 protein-coding 1318909 MCOLN2 mucolipin 2 Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human MCOLN1 gene (MIM 605248) cause mucolipodosis IV (MIM 262650).[supplied by OMIM] 1580863 17662026,16606612,16382100,14702039,12477932,12403827 255231 AK129786,AV713773,AY083533,BC104891,BC104893,BF512441,NM_153259,AL139150,AL358789,CH471097,AK094010 AAM08926,AAI04892,AAI04894,Q2M3I6,Q5T4H7,Q5TAG5,Q8IZK6,NP_694991,CAI22348,EAW73219,EAW73220,EAW73221,BAC04267 Hs.591446 FLJ36691|TRP-ML2|TRPML2 protein-coding 1318177 MCOLN3 mucolipin 3 Mucolipins constitute a family of cation channel proteins with homologs in mouse, Drosophila, and C. elegans. Mutations in the human MCOLN1 gene (MIM 605248) cause mucolipodosis IV (MIM 262650).[supplied by OMIM] 1580863 18369318,18162548,17962195,16710414,16606612,16382100,14702039,12477932,12403827,11326278 55283 NM_018298,AL358789,CH471097,AF475085,AK001868,AK093948,AK095148,AK292206,BC060765,BQ006750,BU634119,BX647497,CB159774,W03483 NP_060768,EAW73216,EAW73217,EAW73218,AAL84622,BAA91951,BAF84895,AAH60765,Q5T4H4,Q6P9H1,Q8TDD5,EAW73215 Hs.535239 FLJ11006|FLJ36629|MGC71509|TRP-ML3|TRPML3 protein-coding 1349111 MCPH1 microcephalin 1 9683597,11857108,18204051,17925396,17566767,17251122,17220170,17102619,16872911,16783362,16687438,16479174,16344560,16217032,16151009,15489334,15220350,15199523,15056608,14702039,12837246,12571366,12477932,12046007 79648 AC016065,AC018398,AF287957,AX087870,AY307773,AY307774,AY307775,AY307776,AY307777,AY307778,AY307779,AY307780,AY307781,AY307782,AY307783,AY307784,AY307785,NM_024596,AY307789,AY307790,AY307791,AY307792,AY307817,AY307818,AY307819,AY307820,AY307821,AY307822,AY307823,AY307824,AY307825,AY307826,AY307827,AY307828,AY307829,AY307830,AY307831,AY307832,AY307833,AY307834,AY307835,AY307836,AY505571,AY505572,AY505573,AY505574,AY505575,AY505607,AY505608,AY505609,AY505610,AY505611,AY505637,AY505638,AY505639,AY505640,AY505641,AY505642,AY505643,AY505644,AY505645,AY505646,AY505647,AY505648,AY505649,AY505650,AY505651,AY505652,AY505653,AY505654,AY505655,AY505656,AY505657,AY505658,AY505659,AY505660,AY505661,AY505662,AY505663,AY505664,AY505665,AY505666,AY505667,AY505603,AY505604,AY505605,AY505606,AY505668,AY505577,AY505578,AY505579,AY505580,AY505581,AY505582,AY505583,AY505584,AY505585,AY505586,AY505587,AY505588,AY505589,AY505590,AY505591,AY505592,AY505593,AY505594,AY505595,AY505576,AY505596,AY505597,AY505598,AY505599,AY505600,AY505601,AY505602,AY307786,AY307787,AY307788,AY505781,AY505782,AY505783,AY505784,AY505785,AY505786,AY505787,AY505788,AY505789,AY505790,AY505791,AY505792,AY505793,AY505794,AY505795,AY505796,AY505797,AY505798,AY505799,AY505800,AY505801,AY505802,AY505803,AY505804,AY505805,AY505806,AY505807,AY505808,AY505809,AY505835,AY505836,AY505837,AY505838,AY505839,AY505669,AY505670,AY505671,AY505672,AY505673,AY505674,AY505675,AY505676,AY505677,AY505703,AY505704,AY505705,AY505706,AY505707,AY505708,AY505709,AY505710,AY505711,AY505712,AY505713,AY505714,AY505715,AY505716,AY505717,AY505718,AY505719,AY505840,AY505841,AY505842,AY505843,AY505780,AY505845,AY505844,AY505846,AY505847,AY505848,AY505849,AY505850,AY505851,AY505852,AY505853,AY505720,AY505721,AY505722,AY505723,AY505724,AY505725,AY505726,AY505854,AY505855,AY505856,AY505857,AY505858,AY505859,AY505860,AY505861,AY505862,AY505863,AY505728,AY505729,AY505730,AY505731,AY505732,AY505733,AY505734,AY505735,AY505736,AY505737,AY505738,AY505739,AY505740,AY505741,AY505742,AY505743,AY505769,AY505770,AY505771,AY505772,AY505773,AY505774,AY505775,AY505776,AY505777,AY505778,AY505779,AY505864,AY505865,AY505866,AY505867,AY505868,AY505869,AY505903,AY505904,AY505905,AY505906,AY505907,AY505909,AY505912,AY505913,AY505914,AY505915,AY505916,AY505870,AY505871,AY505872,AY505873,AY505874,AY505875,AY505901,AY505917,AY505918,AY505919,AY505920,AY505921,AY505922,AY505923,AY505924,AY505925,AY505926,AY505927,AY505928,AY505929,AY505930,AY505931,AY505932,AY505933,AY505934,AY505935,AY505902,AY506064,AY506065,AY506066,AY506067,AY506068,AY506069,AY506070,AY506071,AY506072,AY506073,AY506005,AY506006,AY506007,AY506008,AY506009,AY506010,AY506011,AY506012,AY506013,AY506014,AY506015,AY506016,AY506017,AY506018,AY506019,AY506020,AY506021,AY506022,AY506023,AY506024,AY506025,AY506026,AY506004,AY505973,AY505974,AY505975,AY505976,AY505977,AY505978,AY505979,AY505980,AY505981,AY505982,AY505983,AY505984,AY505985,AY505986,AY505987,AY505988,AY505989,AY505990,AY505991,AY505992,AY505997,AY505998,AY505999,AY506000,AY506001,AY506002,AY506003,AY506207,AY506208,AY506209,AY506210,AY506211,AY506212,AY506213,AY506214,AY506215,AY506216,AY506217,AY506219,AY506220,AY506221,AY506222,AY506223,AY506224,AY506225,AY506226,AY506227,AY506228,AY506229,AY506230,AY506231,AY506074,AY506075,AY506076,AY506077,AY506078,AY506079,AY506281,AY506282,AY506283,AY506284,AY506285,AY506286,AY506294,AY506298,AY506299,AY506300,AY506304,AY506307,AY506308,AY506309,AY506311,AY506232,AY506233,AY506234,AY506218,AY505936,AY505937,AY505938,AY505939,AY505940,AY506080,AY506081,AY506082,AY506083,AY506084,AY506085,AY506086,AY506087,AY506088,AY506089,AY506090,AY506091,AY506092,AY506093,AY506094,AY506095,AY506096,AY506097,AY506098,AY506099,AY506100,AY506101,AY506103,AY506195,AY506196,AY506197,AY506198,AY506199,AY506200,AY506201,AY506202,AY506203,AY506204,AY506205,AY506206,AY505941,AY505967,AY505968,AY505969,AY505970,AY505971,AY505972,AY506129,AY506130,AY506131,AY506132,AY506133,AY506134,AY506135,AY506102,AY506136,AY506137,AY506138,AY506139,AY506140,AY506141,AY506142,AY506143,AY506144,AY506146,AY506147,AY506148,AY506149,AY506150,AY506151,AY506152,AY506153,AY506154,AY506155,AY506156,AY506157,AY506158,AY506159,AY506160,AY506161,AY506162,AY506163,AY506164,AY506165,AY506166,AY506167,AY506168,AY506169,AY506145,AY506027,AY506028,AY506029,AY506030,AY506031,AY506032,AY506033,AY506034,AY506035,AY506036,AY506037,AY506063,AY506235,AY506312,AY506314,AY506315,AY506316,AY506317,AY506318,AY506320,AY506321,AY506327,AY506328,AY506330,CH471153,AI480294,AK022909,AK023946,AK057995,BC030702,BC056195,BK004076,CR593857,DB051427,AY506261,AY506262,AY506263,AY506264,AY506265,AY506266,AY506267,AY506268,AY506269,AY506270,AY506271,AY506272,AY506273,AY506274,AY506275,AY506276,AY506277,AY506278,AY506279,AY506280 NP_078872,CAC34661,AAQ92669,AAQ92670,AAQ92671,AAQ92672,AAQ92673,AAQ92674,AAQ92675,AAQ92676,AAQ92677,AAQ92678,AAQ92679,AAQ92680,AAQ92681,AAQ92685,AAQ92686,AAQ92687,AAQ92688,AAQ92713,AAQ92714,AAQ92715,AAQ92716,AAQ92717,AAQ92718,AAQ92719,AAQ92720,AAQ92721,AAQ92722,AAQ92723,AAQ92724,AAQ92725,AAQ92726,AAQ92727,AAQ92728,AAQ92729,AAQ92730,AAQ92731,AAQ92732,AAS86449,AAS86450,AAS86451,AAS86452,AAS86485,AAS86486,AAS86487,AAS86488,AAS86489,AAS86515,AAS86516,AAS86517,AAS86518,AAS86519,AAS86520,AAS86521,AAS86522,AAS86523,AAS86524,AAS86525,AAS86526,AAS86527,AAS86528,AAS86529,AAS86530,AAS86531,AAS86532,AAS86533,AAS86534,AAS86453,AAS86536,AAS86537,AAS86538,AAS86539,AAS86540,AAS86541,AAS86542,AAS86543,AAS86544,AAS86545,AAS86480,AAS86481,AAS86482,AAS86483,AAS86484,AAS86535,AAS86454,AAS86455,AAS86456,AAS86457,AAS86458,AAS86459,AAS86460,AAS86461,AAS86462,AAS86463,AAS86464,AAS86465,AAS86466,AAS86467,AAS86468,AAS86469,AAS86470,AAS86471,AAS86472,AAS86473,AAS86474,AAS86475,AAS86476,AAS86477,AAS86478,AAS86479,AAQ92682,AAQ92683,AAQ92684,AAS87618,AAS87619,AAS87620,AAS87621,AAS87622,AAS87623,AAS87624,AAS87625,AAS87626,AAS87627,AAS87628,AAS87629,AAS87630,AAS87631,AAS87632,AAS87633,AAS87634,AAS87635,AAS87636,AAS87637,AAS87638,AAS87639,AAS87640,AAS87641,AAS87642,AAS87617,AAS87643,AAS87644,AAS87645,AAS87646,AAS87672,AAS87673,AAS87674,AAS87675,AAS87676,AAS86547,AAS86548,AAS86549,AAS86550,AAS86551,AAS86552,AAS86553,AAS86554,AAS86555,AAS86581,AAS86582,AAS86583,AAS86584,AAS86585,AAS86586,AAS86587,AAS86588,AAS86589,AAS86590,AAS86591,AAS86592,AAS86593,AAS86594,AAS86595,AAS86596,AAS87677,AAS87678,AAS87679,AAS87680,AAS87682,AAS87681,AAS87683,AAS87684,AAS87685,AAS87686,AAS87687,AAS87688,AAS87689,AAS87690,AAS86597,AAS86598,AAS86599,AAS86600,AAS86601,AAS86602,AAS86603,AAS86546,AAS87691,AAS87692,AAS87693,AAS87694,AAS87695,AAS87696,AAS87697,AAS87698,AAS87699,AAS86606,AAS86607,AAS86608,AAS86609,AAS86610,AAS86611,AAS86612,AAS86613,AAS86614,AAS86615,AAS86616,AAS86617,AAS86618,AAS86619,AAS86620,AAS86621,AAS87606,AAS87607,AAS87608,AAS87609,AAS87610,AAS87611,AAS87612,AAS87613,AAS87614,AAS87615,AAS87616,AAS86604,AAS87701,AAS87702,AAS87703,AAS87704,AAS87705,AAS87706,AAS87739,AAS87740,AAS87741,AAS87742,AAS87743,AAS87744,AAS87746,AAS87749,AAS87750,AAS87751,AAS87752,AAS87700,AAS87707,AAS87708,AAS87709,AAS87710,AAS87711,AAS87712,AAS87738,AAS87753,AAS87754,AAS87755,AAS87756,AAS87757,AAS87758,AAS87759,AAS87760,AAS87761,AAS87762,AAS87763,AAS87764,AAS87765,AAS87766,AAS87767,AAS87768,AAS87769,AAS87770,AAS87771,AAS87901,AAS87902,AAS87903,AAS87904,AAS87905,AAS87906,AAS87907,AAS87908,AAS87909,AAS87841,AAS87842,AAS87843,AAS87844,AAS87845,AAS87846,AAS87847,AAS87848,AAS87849,AAS87850,AAS87851,AAS87852,AAS87853,AAS87854,AAS87855,AAS87856,AAS87857,AAS87858,AAS87859,AAS87860,AAS87861,AAS87862,AAS87863,AAS87810,AAS87811,AAS87812,AAS87813,AAS87814,AAS87815,AAS87816,AAS87817,AAS87818,AAS87819,AAS87820,AAS87821,AAS87822,AAS87823,AAS87824,AAS87825,AAS87809,AAS87826,AAS87827,AAS87828,AAS87829,AAS87834,AAS87835,AAS87836,AAS87837,AAS87838,AAS87839,AAS87840,AAS88044,AAS88045,AAS88046,AAS88047,AAS88048,AAS88049,AAS88050,AAS88051,AAS88052,AAS88053,AAS88054,AAS88043,AAS88055,AAS88056,AAS88057,AAS88058,AAS88059,AAS88060,AAS88061,AAS88062,AAS88063,AAS88064,AAS88065,AAS88066,AAS88067,AAS88068,AAS87911,AAS87912,AAS87913,AAS87914,AAS87915,AAS88644,AAS88645,AAS88646,AAS88647,AAS88648,AAS88649,AAS88657,AAS88661,AAS88662,AAS88663,AAS88667,AAS88670,AAS88671,AAS88672,AAS88069,AAS88070,AAS88071,AAS87773,AAS87774,AAS87775,AAS87776,AAS87777,AAS87916,AAS87917,AAS87918,AAS87919,AAS87920,AAS87921,AAS87922,AAS87923,AAS87924,AAS87925,AAS87926,AAS87927,AAS87928,AAS87929,AAS87930,AAS87931,AAS87932,AAS87933,AAS87934,AAS87935,AAS87936,AAS87937,AAS87938,AAS87910,AAS87939,AAS88033,AAS88034,AAS88035,AAS88036,AAS88037,AAS88038,AAS88039,AAS88040,AAS88041,AAS88042,AAS88032,AAS87778,AAS87804,AAS87805,AAS87806,AAS87807,AAS87808,AAS87772,AAS87940,AAS87966,AAS87967,AAS87968,AAS87969,AAS87970,AAS87971,AAS87972,AAS87973,AAS87974,AAS87975,AAS87976,AAS87977,AAS87978,AAS87979,AAS87980,AAS87981,AAS87982,AAS87983,Q6W795,Q6W796,Q6W799,Q6W7A2,Q6W7E0,Q6W7E3,Q6W7E4,Q6W7E5,Q8NEM0,AAS87984,AAS87985,AAS87986,AAS87987,AAS87988,AAS87989,AAS87990,AAS87991,AAS87992,AAS87993,AAS87994,AAS87995,AAS87996,AAS87997,AAS87998,AAS87999,AAS88000,AAS88001,AAS88002,AAS88003,AAS88004,AAS88005,AAS88006,AAS87864,AAS87865,AAS87866,AAS87867,AAS87868,AAS87869,AAS87870,AAS87871,AAS87872,AAS87873,AAS87874,AAS87900,AAS88675,AAS88677,AAS88678,AAS88679,AAS88680,AAS88681,AAS88683,AAS88684,AAS88690,AAS88691,AAS88693,EAW80468,EAW80469,EAW80470,BAB14304,AAH30702,DAA04567,Q6R9U8,Q6RA50,Q6RA82,Q6RAB1,Q6RAB6,Q6RAI2,Q6RAP8,Q6RAQ8,Q6RAR7,Q6RAS0,Q6RAS1,Q6RAS2,Q6RAS3,Q6RAS6,Q6RAS8,Q6RAZ4,Q6RB57,Q6RB59,Q6RB60,Q6RBC6,Q6RBJ2,Q6RBQ8,AAS88674,Q6RBX4,Q6W788,Q6W791,Q6W794,AAS88072,AAS88624,AAS88625,AAS88626,AAS88627,AAS88628,AAS88629,AAS88630,AAS88631,AAS88632,AAS88633,AAS88634,AAS88635,AAS88636,AAS88637,AAS88638,AAS88639,AAS88640,AAS88641,AAS88642,AAS88643 Hs.709634 GDB:9834525 BRIT1|FLJ12847|MCT microcephaly, primary autosomal recessive 1 protein-coding 1351745 MCPH2 microcephaly, primary autosomal recessive 2 4181 GDB:9863035 1343826 MCPH3 microcephaly, primary autosomal recessive 3 23702 GDB:10794763 1346684 MCPH4 microcephaly, primary autosomal recessive 4 23701 GDB:10794804 1344440 MCPH6 microcephaly, primary autosomal recessive 6 170629 GDB:11506233 1342873 MCPHA microcephaly, Amish 246765 GDB:11508788 1349824 MCPL membrane cofactor protein-like (CD46-like, trophoblast-lymphocyte cross-reactive antigen-like) 1740338 4182 M73721 GDB:131471 1323153 MCRS1 microspherule protein 1 1580863 11948183,14667819,15231747,16189514,17353931,9765390,17109818,17081983,17014843,16964243,16571602,16565220,16547491,16186106,15489334,15345747,15044100,12477932,9654073 10445 NM_006337,NM_001012300,AC020612,CH471111,AF015308,AF068007,AY336730,BC011794,BX538079,CR591814,CR596592,CR596684,CR596853,CR596904,CR597232,CR598264,CR599933,CR609392,CR610893,CR615828,CR618696,CR622765,CR623215,CR624177 NP_006328,NP_001012300,EAW58075,EAW58076,EAW58077,EAW58078,EAW58079,EAW58080,Q96EZ8,ABM83813,ABW03528,AAC52086,AAC68599,AAQ84517,AAH11794,CAD98003,Q7Z372 Hs.25313 GDB:11500886 ICP22BP|MCRS2|MSP58|P78 protein-coding 1351022 MCS Miles-Carpenter X-linked mental retardation syndrome 2018061,1605216 4183 GDB:128370 1605937 MCTP1 multiple C2 domains, transmembrane 1 15528213,14702039,12477932 79772 NM_024717,NM_001002796,AC008534,AC008573,AC010362,AC012312,AC099507,CH471084,AK025997,AK057694,AK058012,AK091330,AY656715,AY656716,BC030005,CR593305 NP_078993,NP_001002796,EAW96031,EAW96032,EAW96033,BAB15311,BAB71547,BAC03637,AAT73058,AAT73059,AAH30005,Q6DN14 Hs.655087 FLJ22344 protein-coding 1603987 MCTP2 multiple C2 domains, transmembrane 2 15528213,18367154,14702039,12477932 55784 NM_018349,AC103749,AC135626,AK001953,AK002037,AK090622,AL360258,AL832048,AL832717,AY656717,BC025708,BC041387,BC111024,BC131527 NP_060819,BAA91998,BAA92048,CAB96177,AAT73060,AAH25708,AAH41387,AAI11025,AAI31528,Q6DN12,Q9NPN6 Hs.592017 FLJ11175|FLJ33303|MGC111402 protein-coding 1351081 MCTS1 malignant T cell amplified sequence 1 1580863 9766643,12938157,12637315,12477932,11709712 28985 NM_014060,XM_001715103,AC011890,CH471107,AB034206,AY364258,BC001013,BC095461 NP_054779,XP_001715155,EAX11874,EAX11875,BAA86055,AAQ76817,AAH01013,AAH95461,Q502X6,Q9ULC4 Hs.102696 MCT-1|MCT1 protein-coding 1348817 MDC1 mediator of DNA damage checkpoint 1 The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. 1580863 12607005,17525332,18001824,12556884,12607003,15604234,18411307,18001825,17977515,17925396,17827148,17546051,17535811,17158742,17081983,16427010,16377563,16186822,16051665,16049003,16009723,15734998,15377652,15302935,15279781,15201865,14695167,14574404,14519663,12611903,12607004,12551934,12499369,12477932,12475977,10975465,8724849,14578343 9656 AB088099,AB202097,AL662797,AL662848,AL845353,BA000025,BX927283,CH471081,CR759873,CR788240,CR936878,BC110645,BC131491,BC152556,BU621433,NM_014641,CR749828,D79992,EF177820,EF177821,EF177822,EF177823 NP_055456,BAC54931,BAE78617,CAI18195,CAI17440,CAI41891,BAB63322,CAQ06770,EAX03321,CAQ08691,CAQ07572,CAQ06814,AAI10646,AAI31492,AAI52557,CAH18685,BAA11487,ABM47418,ABM47419,ABM47420,ABM47421,Q0EFC2,Q14676,Q2L6H7,Q2TAZ4 Hs.653495 DKFZp781A0122|KIAA0170|MGC166888|NFBD1 protein-coding 1353447 MDCR Miller-Dieker syndrome chromosome region 4186 GDB:120525 1353332 MDFI MyoD family inhibitor This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. 1580863 8797820,16713569,16189514,15489334,15207726,14574404,14530267,12477932,12107410,11238923,9799236,9250874 4188 NM_005586,AL035588,CH471081,AK290735,BC007836,BG818571,CA393148,CR594049,CR610379,CR622975,U78313 NP_005577,CAB54148,CAD92607,CAI22456,CAO72132,CAO72133,CAO72134,CAO72135,EAX04051,EAX04052,EAX04053,BAF83424,AAH07836,AAB39748,Q5QPI3,Q7Z6P8,Q99750 Hs.520119 GDB:9184783 I-MF protein-coding 1607030 MDFIC MyoD family inhibitor domain containing This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. 12944466,16260749,12192039,10671520,12477932,11139147 29969 AI668639,AY196485,BC040713,NM_199072,AC017003,CH236947,CH471070,AF054589 AAF36999,AAP33842,Q9P1T7,AAI56447,NP_951038,EAW83487,AAF36998 Hs.427236 HIC protein-coding 1315985 MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1 1580863 15019943,15922729,16335952,14702039,12082541 266727 CH471081,AF478693,AK055376,AK090677,AK091149,AK091650,AK092308,AK126965,BX647180,BX647253,NM_153487,AL049553 CAI20460,CAI20461,EAX03950,EAX03951,EAX03952,EAX03953,EAX03954,AAM77220,BAC03502,BAC86767,Q5TFS7,Q5TFS8,Q6ZT28,Q8NFP4,AAI52818,NP_705691 Hs.437993 GDB:11510788 DKFZp686K0262|DKFZp686L0262|FLJ45018|GPIM|MAMDC3 protein-coding 1343433 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 1580863 15019943,16344560,14702039,12975309,12508121,12477932 161357 NM_182830,NM_001113498,AL157792,AL162551,AL358832,AL359951,AL591771,CH471078,AK123307,AY328482,AY358125,AY369208,BC028193,BC142947,BX538065,DB041561 NP_878250,NP_001106970,EAW65772,EAW65773,EAW65774,AAP97010,AAQ88492,AAQ73312,Q7Z553,AAI60160 Hs.436380 MAMDC1|c14_5286 mam domain containing 1 protein-coding 732327 MDH1 malate dehydrogenase 1, NAD (soluble) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the cytoplasm and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. 1300048,1580863 8786100,15815621,15565635,15489334,12477932,10190973,10075524,9799840,7895732,7698769,7151307,3052244,2775751,2449162 4190 NM_005917,AC016734,CH471053,BC001484,CR457405,CR594032,CR598586,CR603513,CR606360,CR609240,CR619426,CR622929,D55654,U20352 AAC16436,P40925,NP_005908,AAY14893,EAW99959,EAW99960,EAW99961,EAW99962,EAW99963,AAH01484,CAG33686,BAA09513 Hs.526521 GDB:120170 MDH-s|MDHA|MGC:1375|MOR2 protein-coding 1317321 MDH1B malate dehydrogenase 1B, NAD (soluble) 12477932 130752 NM_001039845,AC008269,CH471063,AK058070,AK292378,AK292386,BC033509,BC088356,BI464613,CR593018 NP_001034934,AAX93274,EAW70392,EAW70393,BAF85067,BAF85075,AAH33509,AAH88356,Q5I0G3 Hs.147816 GDB:11508926 FLJ25341|RP11-95H11 protein-coding 733026 MDH2 malate dehydrogenase 2, NAD (mitochondrial) Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. 1582465,1582468,1582470,1300048,1580863 15489334,14702039,12853948,12477932,11029287,10075524,9792662,9792106,8401585,8349677,7698769,7285903,6439716,3591372,2899080,2759092,1602151,1505215,606506,16189514,17603759,16751257,15635413,15592455 1582465,1582468,1582470 4191 CR602693,CR603586,CR604994,CR608858,CR609305,CR609833,CR611271,CR613026,CR614342,CR615128,CR615222,CR615946,CR618110,CR619490,CR622625,CR624429,CR600726,CR625644,CR626170,DQ402957,AC005077,AC006330,CH471220,AF047470,AK095803,AK290779,BC001917,CR536548,CR590302,CR591002,CR591867,CR592414,CR592770,CR593897,CR594479,CR595903,CR599784,NM_005918 ABD77290,P40926,Q0QF37,Q6FHZ0,Q75MP7,Q75MT9,ABM84006,ABM87340,NP_005909,AAS07425,AAS07534,EAW71796,EAW71797,EAW71798,AAC03787,BAF83468,AAH01917,CAG38785 Hs.520967 GDB:120171 M-MDH|MDH|MGC:3559|MOR1 malate dehydrogenase, mitochondrial protein-coding 69142 MDK midkine (neurite growth-promoting factor 2) 1581202,1581200,1582484,1582476,1299187,1582475,1582478,1582488,1580863 1639750,9384573,7835084,18195496,18176965,17971413,17931612,17845207,17607302,17493173,17451201,17379400,17368428,17267033,17171794,17066487,16895951,16713569,16341674,15897897,15781266,15734764,15489334,15355893,15340161,15201962,15146411,15146197,15138367,15050737,14970216,12841873,12579281,12477932,12175547,12147681,12127679,12122009,12077357,11048798,10772929,10706604,10212223,9452495,9089390,8694802,8621465,8471163,8406506,2025291,1883381,1768439,1701366,16189514,11925507 1581202,1581200,1582484,1582476,1299187,1582475,1582478,1582488 4192 NM_001012334,NM_002391,NM_001012333,AC116021,CH471064,D10604,M94250,AK130889,BC011704,BM016739,BM761575,CN266376,CR590366,CR601916,CR602072,CR614410,CR624204,DQ323888,DQ323889,DQ323890,M69148,X55110 NP_001012334,NP_002382,NP_001012333,EAW68005,BAA01457,AAA59850,AAH11704,ABC55425,ABC55426,ABC55427,AAA58478,CAA38908,P21741,Q2LEK2,Q2LEK3,Q2LEK4,Q9UCC7,ABM84146,ABM87548 Hs.82045 GDB:143094 FLJ27379|MK|NEGF2 midkine protein-coding 1352515 MDM1 Mdm1 nuclear protein homolog (mouse) This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles and is amplified in the mouse transformed 3T3 cell line, and the protein is able to bind to p53. In mouse several transcripts have been described for this gene which result from alternative polyadenylation, splicing and exon usage. 16341674,12477932,9110174,8619474,3182840 56890 NM_017440,NM_020128,AC022511,CH471054,AF007130,AF267851,AK026745,AK314461,BC010622,BC022042,BC028355,BC034945,BM787113,CD704611 NP_059136,NP_064513,EAW97183,EAW97184,EAW97185,AAC19149,AAF78952,BAG37069,AAH22042,AAH28355,Q8TC05 Hs.655702 FLJ95264 protein-coding 1313299 MDM2 Mdm2 p53 binding protein homolog (mouse) This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein that binds and inhibits transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of this gene can result in excessive inactivation of tumor protein p53, diminishing its tumor suppressor function. This protein has E3 ubiquitin ligase activity, which targets tumor protein p53 for proteasomal degradation. This protein also affects the cell cycle, apoptosis, and tumorigenesis through interactions with other proteins, including retinoblastoma 1 and ribosomal protein L5. More than 40 different alternatively spliced transcript variants have been isolated from both tumor and normal tissues. 1580863 16152608,16142358,16107876,16082221,16055726,16027727,15985438,15953616,15943041,15916963,15908423,15902285,15878855,15876864,15866118,15862297,15843377,15832769,15807633,15788536,15782125,15771712,15742432,15734743,15723837,15720187,15720186,15720185,15720184,15714438,15688025,15644444,15632057,15550242,15548678,15546622,15527798,15492852,15485814,15448710,15375804,15337531,15315825,15314174,15314173,15308643,15218947,15192123,15144954,15029243,15024701,15024078,15013777,15001356,14769800,14761977,14757843,14756544,14741215,14731389,14729628,14723816,14720195,14671306,14633995,14614050,14612427,14610316,14596917,14587869,14565663,14559824,14522887,14507994,14507915,15734740,14499615,12963717,12944468,12927808,12926050,12883554,12874296,12860999,12821780,12782320,12750288,12730202,12687276,12661905,12646252,12620409,12606552,12582944,12565795,12556559,12552135,12538596,12507556,12488444,12483531,12477932,12450795,12426395,17170710,17159902,17139261,17123590,17120309,17116689,17110379,17096342,17094469,17080308,17060450,17056014,17018606,17018602,17013834,17006543,17003841,16984978,16983111,16980628,16965791,16934800,16914573,16905769,16896050,16892553,16883576,16877339,16876289,16870621,16866370,16861890,16825434,16825430,16818855,16815295,16803902,16751805,16738062,16737965,16696307,16675470,16636310,16624822,16624812,16621805,16579792,16563154,16510145,16496380,16479015,16478747,16474402,16439685,16434608,16432196,16402859,16394138,16343421,16337594,16288830,16287156,16258514,16258005,16246554,16239061,16230424,16219768,16212962,16203772,16202543,16170383,16167062,16163388,16159876,17717065,17698841,17697133,17684142,17684018,17680991,17671841,17671677,17640893,17638920,17634539,17627285,17620186,17616682,17616658,17592964,17576019,17568997,17553029,17545546,17545525,17538168,17537232,17536310,17527046,17525743,17513604,17500067,17498302,17488676,17473193,17468107,17460193,17426254,17387621,17373842,17371838,17360557,17359998,17354236,17349959,17339337,17327702,17310983,17302414,17242401,17237821,17226766,17214373,17188136,17171684,15577914,17936559,9271120,9450543,10722742,7791904,10608892,12915590,9153395,11715018,10707090,11331603,18487080,18467716,18462472,18459109,18433491,18433484,18426989,18423915,18398041,18390844,18382127,18381604,18359851,18348658,18332046,18314481,18313915,18281248,18269578,18264029,18262501,18235222,18234968,18234963,18214854,18204439,18199985,18199551,18096571,18086887,18086778,18026875,18023538,17984062,17981213,17957785,17942278,17914240,17909070,17895748,17848574,17846171,17827408,17721920,17719241,12421820,12414343,12393906,12393902,12381304,12372616,12297306,12232053,12231395,12208736,12167711,12150820,12138177,12110584,12085228,12082592,12082526,12080472,12068014,12052755,12032546,11983168,11964305,11960904,11960368,11956627,11953887,11953423,11939408,11927554,11925449,11923280,11894120,11877395,11867628,11859876,11839577,11839563,11779693,11764099,11744695,11718560,11709713,11562347,11504915,11351297,11307150,11172000,11087894,10949923,10906133,10892746,10871849,10723139,10721693,10713175,10640274,10611322,10597303,10561590,10218570,10207051,10078201,9809062,9529249,9529248,9388200,9363941,9270029,9153396,9070662,8875929,8705862,8219216,8058315,7935455,7689721,7686617,7651818,7606365,7590734,1614537,1535557,11073989,12620407,12640129,15195100,12759344,14578343,10435614,12867035,12145204,16009130,16023600,15933712,15963787,15824742,9223638,11597128,10781812,10822382,15280377,11046142,10562557,15355988,15950904,15867431,12582152,15577944,15525514,15321712,15558054,9653180,15735750,15242646,15210108,12842086 4193 U28935,U39736,AF092843,AF092844,AF092845,AF201370,AF201371,AF385322,AF385323,AF385325,AF385327,AJ276888,AJ278975,AJ550519,AJ550520,AK290341,BC009893,BC152384,BC152390,BE296905,BF208689,BT007258,EU076746,EU076747,AJ278976,AJ278977,AJ278978,AJ430612,AJ430613,AJ430614,AJ491698,AJ491699,AJ491700,AJ491701,AJ550516,AJ550517,AJ550518,NM_002392,NM_006878,NM_006881,NM_006882,NM_006879,AC025423,AF527840,AJ251943,AJ517838,AJ517839,AJ517840,CH471054,EU076748,EU076749,M92424,U33199,U33200,U33201,U33202,U33203,Z12020 EAW97207,EAW97208,EAW97209,EAW97210,EAW97211,EAW97212,EAW97213,EAW97214,AAA82237,AAA82061,AAL40178,AAL40179,AAL40180,AAF42995,AAL13242,AAL13243,AAL13245,AAL13247,CAD79457,CAD79458,CAD79459,BAF83030,AAI52385,AAI52391,AAP35922,ABT17083,ABT17084,CAC07809,CAC07810,CAC07811,CAC07812,CAD23251,CAD23252,CAD36959,CAD36960,CAD36961,CAD36962,CAD79455,CAD79456,NP_002383,NP_006869,NP_006872,NP_006873,NP_006870,AAM78554,CAB64448,CAD57166,CAD57167,CAD57168,EAW97201,EAW97202,EAW97203,EAW97204,EAW97205,EAW97206,ABT17085,ABT17086,AAA60568,AAA75514,AAA75515,AAA75516,AAA75517,AAA75518,CAA78055,Q00987,Q546E6,Q86WA2,Q86WA3,Q86WA4,Q86WA5,Q8NDV9,Q8NDW0,Q8NDW1,Q8NDW2,Q8TE46,Q8TE47,Q8WYJ3,Q96DS0,Q96DS2,Q96DS4,Q96DS5,Q9H4C2,Q9H4C3,Q9H4C4,Q9H4C5,AAI48523,AAI53118 Hs.567303 GDB:250456 HDMX|MGC71221|hdm2 protein-coding 1319584 MDM4 Mdm4 p53 binding protein homolog (mouse) The human MDM4 gene, which plays a role in apoptosis, encodes a 490-amino acid protein containing a RING finger domain and a putative nuclear localization signal. The MDM4 putative nuclear localization signal, which all Mdm proteins contain, is located in the C-terminal region of the protein. The mRNA is expressed at a high level in thymus and at lower levels in all other tissues tested. MDM4 protein produced by in vitro translation interacts with p53 via a binding domain located in the N-terminal region of the MDM4 protein. MDM4 shows significant structural similarity to p53-binding protein MDM2 1580863 10469568,10608892,12101245,14660608,9226370,18279506,18172009,18086887,17651783,17616658,17159902,17110929,17080083,17018606,16943424,16710414,16616333,16510145,16266988,16163388,16082221,16027727,15944197,15907800,15906355,15876864,15788536,15782125,15489334,15199139,14739777,12963717,12860999,12640683,12532331,12483531,12477932,12393902,12370303,12162806,12107410,11953423,11840567,11840332,11528400,11297540,10218570,9373149,8895579,8125298,15916963,15735705 4194 NM_002393,AL512306,AY207458,CH471067,AB209383,AF007111,AK223228,AY923176,AY949028,BC025993,BC067299,BC105106,BM475824,BX640923,CA395099,CR605311,CR749470 NP_002384,CAI14097,CAI14098,CAI14100,CAI14101,AAO13494,EAW91515,EAW91516,BAD92620,AAB62928,BAD96948,AAY22054,AAX51227,AAH67299,AAI05107,CAE45961,CAH18300,O15151,Q2M2Y2,Q32SL2,Q58HK1,Q59FS6,Q5T0Y3,Q68DC0,Q6MZR7 Hs.708211 GDB:6919852 DKFZp781B1423|HDMX|MDMX|MGC132766|MRP1 protein-coding 1314985 MDN1 MDN1, midasin homolog (yeast) 1580863 12102729,17081983,15635413,15302935,14574404,12477932,9205841 23195 NM_014611,AL096678,AL158813,AL353692,CH471051,AB002299,AF503925,AK027048,AK098453,AK124025,AK125181,BC014882,BC020432,BC036888,BC040330,CR627399 NP_055426,CAI42279,CAI13203,CAI16236,EAW48545,EAW48546,BAA20761,AAM77722,BAC85754,AAH14882,AAH40330,CAH10492,Q49AD5,Q5T794,Q6AI22,Q6PJJ1,Q6ZVV6,Q9NU22 Hs.529948 GDB:9785515 DKFZp686H16106|FLJ23395|FLJ25587|FLJ42031|FLJ43191|KIAA0301 protein-coding 1601722 MDP-1 magnesium-dependent phosphatase 1 15489334,14702039,12477932 145553 NM_138476,AL096870,CH471078,AK092821,BC009495,BC046912,BC051382 NP_612485,EAW66060,EAW66061,EAW66062,EAW66063,EAW66064,BAC03984,AAH46912,AAH51382,Q86V88 Hs.220963 MGC5987 protein-coding 1349726 MDRV muscular dystrophy, with rimmed vacuoles 4195 GDB:6306714 1319408 MDS1 myelodysplasia syndrome 1 1580863 8643684,16582916,15489334,12477932,8171026,11552981,12927815 4197 NM_004991,AC007849,AC024099,AC069220,AC074033,AC078985,CH471052,AF164154,BC069498,CR541866,CR541886,U43292,U43293 NP_004982,EAW78549,EAW78550,AAF04008,AAH69498,CAG46664,CAG46684,AAB05839,AAB05840,Q13465,Q6FH90 Hs.656395,Hs.659873 GDB:250411 MDS1-EVI1|PRDM3 protein-coding 736133 ME1 malic enzyme 1, NADP(+)-dependent, cytosolic This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. 1580863,1300048 7622060,8187880,16757477,15489334,14574404,12477932,12121650,11358520,11352855,11085912,9373149,9174159,8804575,8125298,7757881,7496989,4689040,3169368,2015102,1088824 4199 A38056,NM_002395,AL049699,AL136970,AL391416,CH471051,L34809,AJ420574,AK223417,AK289783,BC017403,BC025246,BX376125,CR591849,CR601714,L34035,U43944,X77244 CAA02318,NP_002386,CAI22634,CAH73129,EAW48664,AAD15054,BAD97137,BAF82472,AAH17403,AAH25246,AAB01380,AAC50613,CAA54460,P48163,Q8WVX2,ABM83081,ABW03488 Hs.21160 GDB:119381 HUMNDME|MES malic enzyme 1 protein-coding 1321157 ME2 malic enzyme 2, NAD(+)-dependent, mitochondrial This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. 1580863 1993674,17638511,17418816,16344560,16190936,16171388,15532013,14760703,12962632,12665801,12477932,12121650,11401430,11358520,10913357,10700286,10477256,10467136,7757881,7496989,3689803,680703,511162 4200 NM_002396,AB045122,AC015864,AC087687,CH471096,AJ294818,AU119085,BC000147,BI465083,CR597158,M55905 NP_002387,BAB40980,EAW62980,EAW62981,EAW62982,CAC14574,AAH00147,AAA36197,P23368,Q9BWL6 Hs.699163 GDB:119382 protein-coding 1322332 ME3 malic enzyme 3, NADP(+)-dependent, mitochondrial Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. 1580863 7818469,14702039,12477932,511162,12023963 10873 NM_006680,NM_001014811,AP001148,AP001831,AP002492,CH471076,AA403046,AA449933,AI198184,AI948779,AK092181,AY424278,BC022472,BM906572,X79440 NP_006671,NP_001014811,EAW75138,EAW75139,EAW75140,EAW75141,EAW75142,BAC03822,AAR04784,AAH22472,CAA55956,Q16798,Q6TCH8,Q8NAS5,Q8TBJ0,ABM83306,ABM84211,ABM87616 Hs.199743 GDB:9958432 FLJ34862 protein-coding 1346327 MEA1 male-enhanced antigen 1 1580863 16189514,2813404,15489334,14574404,12477932,12444059 4201 NM_014623,AL136304,CH471081,AA448322,BC001754,BQ232807,BT009831,CR606344,L10400,M27937 NP_055438,CAI19794,EAX04135,AAH01754,AAP88833,AAA36209,AAA36208,Q16626 Hs.278362 GDB:632808 HYS|MEA male-enhanced antigen protein-coding 1343918 MEAX myopathy with excessive autophagy 4202 GDB:119383 1343734 MEB muscle-eye-brain disease 9915951 4203 GDB:599557 1349232 MECP2 methyl CpG binding protein 2 (Rett syndrome) DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of some cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. 728918,1601320,1580863,1601318,1601319 9620804,15696166,10773092,18434641,18337588,18332345,18320046,18310203,18190595,18184939,18174559,18174548,18042715,17986102,17968969,17965613,17965612,17965611,17881312,17712354,17701895,17660293,17634428,17531413,17486180,17486179,17440498,17427193,17420401,17413451,17407838,17387578,17383248,17351020,17339270,17309881,17296936,17236109,17172942,17171659,17142618,17101771,17101000,17089071,17088400,17084570,17026625,16966553,16932552,14649548,14647463,14623222,14612906,14598336,14560307,14529314,12966523,12966522,12872250,12770674,12746406,12707946,12646234,12640384,12615169,12567420,12555243,12545250,12535940,12481990,12477932,12449561,12442230,12384770,12325019,12210319,12180070,12170461,12161600,12111644,12111643,12107440,12081725,12075485,12030010,11955928,11930274,11913564,11896461,11896459,11885030,11836365,11809720,11807877,11805248,11768391,11748221,11738883,11706982,11691937,11524741,11524737,11462237,11441023,11432961,11402105,11376998,11313756,11309367,11283202,11269512,11241840,11238684,11214906,11076863,11055898,14649549,16879196,16832102,16763620,16708070,16682435,16681803,16672765,16647997,16613900,16473305,16399702,16389588,16381901,16331274,16251272,16199017,16183801,16182497,16182491,16080119,16077736,16077729,15959553,15954098,15917271,15857422,15814190,15809268,15772651,15757975,15712379,15689435,15689352,15675358,15635068,15578581,15557528,15526354,15489336,15489334,15367913,15351775,15302935,15211631,15057977,15034579,15034150,14981718,14974082,16905679,11022934,11007980,10991689,10991688,10986043,10944854,10854091,10814719,10814718,10723722,10577905,10518942,10508514,10398236,10369871,10232754,9710633,9620779,9546328,9377804,9222958,9171351,9038338,10767337,10745042,8976388,8672133,8563762,1606614,16189514,14633992 728918,1601320,1601318,1601319 4204 NG_007107,NM_001110792,AF030876,CH471172,X94628,AB209464,AF158180,AJ132917,AK289444,AY541280,BC011612,BC031833,BX538060,CR598471,CR604541,CR612728,L37298,X89430,X99686,Y12643,NM_004992 CAA73190,P51608,Q0JVM5,Q59FJ6,Q8N5Q5,CAL37435,ABM82865,ABW03457,NP_004983,NP_001104262,AAC08757,EAW72757,EAW72758,EAW72759,CAA64331,BAD92701,AAF33023,CAB46446,BAF82133,AAS55455,AAH11612,AAH31833,CAD97991,AAC32737,CAA61599,CAA68001 Hs.200716 GDB:3851454 AUTSX3|DKFZp686A24160|MRX16|MRX79|MRXS13|MRXSL|PPMX|RTS|RTT protein-coding 733084 MECR mitochondrial trans-2-enoyl-CoA reductase 12654921,16710414,15489334,14702039,12477932,10810093,9795230,9373149,8125298 51102 NM_001024732,NM_016011,AL590729,CH471059,AF151821,AK025830,AK095099,AK225687,AK226084,AL711403,BC001419,CR456703,CR604427,CR616740,CR624586,CR626137 NP_001019903,NP_057095,CAI14327,CAI14329,CAI14330,EAX07653,EAX07654,EAX07655,EAX07656,AAD34058,AAH01419,CAG32984,Q9BV79 Hs.183646 CGI-63|FASN2B|NRBF1 nuclear receptor binding factor 1 protein-coding 1351174 MED1 mediator complex subunit 1 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. 1580863 10198638,10235266,16554032,16799563,12218053,12037571,10235267,18003614,17641689,17223341,17117180,17081983,16964243,16934225,16723356,16574658,16314496,16239257,15848166,15572376,15471764,15342556,15302935,15208681,15187081,15175163,15095040,14983011,14636573,12584197,12562779,12556447,12477932,12356758,12189208,12145330,12130544,12101254,12089346,12082103,11912212,11867769,11840331,11724781,11266503,11118038,10733574,10485914,10478845,10024883,9989412,9653119,9444950,9325263,8710870,7776974,12837248,14576168,15989967,12738788,14638676 5469 NM_004774,AC005288,AC009283,AF157513,CH471152,AF055994,AF283812,BC006517,BC060758,BC131783,BP357374,CR625084,L40366,Y13467 NP_004765,EAW60575,AAC39854,AAF98352,AAH06517,AAH60758,AAI31784,AAC41736,CAA73867,Q15648 Hs.643754 GDB:9863224 CRSP1|CRSP200|DRIP205|DRIP230|MGC71488|PBP|PPARBP|PPARGBP|RB18A|TRAP220|TRIP2 protein-coding 1604270 MED10 mediator complex subunit 10 16303743,15657623,15334068,15175163,12477932,14576168,14638676 84246 NM_032286,AC010635,AC093307,CH471102,AA648258,AK075493,AY277599,AY453397,AY598325,BC003353,BI597082 NP_115662,EAX08110,BAC11650,AAQ18038,AAS47514,AAT06736,AAH03353,Q8N2G1,Q9BTT4 Hs.13885 L6|MGC5309|NUT2|TRG20 protein-coding 1606637 MED11 mediator complex subunit 11 12584197,14638676,15175163,12477932,14576168,15989967 400569 NM_001001683,AC091153,CH471108,AF161414,BC070377,CR624732 NP_001001683,EAW90417,AAF28974,AAH70377,Q9P086 Hs.513885 HSPC296|MGC88387 protein-coding 1350145 MED12 mediator complex subunit 12 1358728 10198638,10235266,16109376,12218053,12037571,10235267,17716226,17369503,17334363,17299734,17088561,17081983,16565090,16538184,16344560,15175163,15108174,14638676,12860370,12777533,12627458,12612078,12584197,12477932,12216017,12136106,11984006,11840515,11524702,11424983,10480376,9702738,9225980,8889548,8781769,8724849,8710870,12660246,12837248,14636573,14576168 1358728 9968 AB102551,AB102552,AB102553,AB102554,AB102555,AB102556,AB102557,AB102558,AB102559,AB102560,AB102561,AB102562,AB102563,AB102564,AB102565,AB102566,AB102567,AB102568,AB102569,AB102570,AB102581,AB102582,AB102583,AB102584,AB102585,AB102586,AB102587,AB102588,NM_005120,AB102589,AB102590,AB102591,AB102592,AB102593,AB102594,AB102595,AB102596,AB102597,AB102598,AB102599,AB102600,AB102629,AB102630,AF132033,AL590764,CH471132,AB102668,AF071309,AJ306428,BM662470,AB102612,AB102613,AB102614,AB102615,AB102616,AB102617,AB102618,AB102619,AB102620,AB102621,AB102622,AB102623,AB102624,AB102625,AB102626,AB102627,AB102628,AB102611,D83783,DB069668,U23863,U80742 AAI56137,AAI56979,Q93074,NP_005111,BAC81020,BAC81021,BAC81022,BAC81023,BAC81024,BAC81025,BAC81026,BAC81027,BAC81028,BAC81029,BAC81030,BAC81031,BAC81032,BAC81033,BAC81034,BAC81035,BAC81036,BAC81037,BAC81038,BAC81039,BAC81050,BAC81051,BAC81052,BAC81053,BAC81054,BAC81055,BAC81056,BAC81057,BAC81058,BAC81059,BAC81060,BAC81061,BAC81062,BAC81063,BAC81064,BAC81065,BAC81066,BAC81067,BAC81068,BAC81069,BAC81098,BAC81099,AAD44162,EAX05314,EAX05315,EAX05316,EAX05317,EAX05318,BAC81137,AAC83163,CAC84084,BAC81080,BAC81081,BAC81082,BAC81083,BAC81084,BAC81085,BAC81086,BAC81087,BAC81088,BAC81089,BAC81090,BAC81091,BAC81092,BAC81093,BAC81094,BAC81095,BAC81096,BAC81097,BAA12112,AAB91440,Q7Z2E0,Q7Z2F1,Q7Z2F4,Q7Z2K3,Q7Z3Z5,Q8WWP6 Hs.409226 CAGH45|HOPA|KIAA0192|OPA1|TNRC11|TRAP230 mediator of rna polymerase ii transcription, subunit 12 homolog (yeast) protein-coding 1352033 MED12L mediator complex subunit 12-like 14702039,11524702,10997877 116931 NM_053002,AC024886,AC078816,AC108726,CH471052,AB046855,AF090917,AF388364,AF388365,AF399708,AK022714,AK128165,BX108326 NP_443728,EAW78800,EAW78801,EAW78802,BAB13461,AAF24035,AAL09579,AAL09580,AAO38813,BAB14198,Q86YW9 Hs.58561 FLJ46288|KIAA1635|NOPAR|TNRC11L|TRALP|TRALPUSH protein-coding 1312495 MED13 mediator complex subunit 13 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. 1580863 10198638,10235266,12218053,12037571,10235267,17081983,15896744,15342556,15302935,15175163,15146197,14702039,12477932,12150923,12050112,11834832,11454195,11042152,10024883,9628581,8710870,15208681,14638676,14576168 9969 NM_005121,AC008158,AC018628,AC060798,CH471179,CQ834416,AB011165,AF117754,AF151055,AK054894,BC044258,BC140891,BP332524,BQ709424,CN273870 NP_005112,EAW51437,EAW51438,EAW51439,CAH05423,BAA25519,AAD22032,AAF36141,AAI40892,Q9P0Q5,Q9UHV7 Hs.282678 ARC250|DRIP250|HSPC221|KIAA0593|THRAP1|TRAP240 protein-coding 1314183 MED13L mediator complex subunit 13-like The evolutionarily conserved THRAP genes encode a family of proteins that regulate embryonic development. THRAP2 is involved in early development of the heart and brain (Muncke et al., 2003 [PubMed 14638541]).[supplied by OMIM] 1580649 15175163,15145061,14702039,14638541,12477932,12168954,10470851 1580649 23389 AC026334,AC060226,AC130895,CH471054,AB028948,AF515599,AK023837,AK025280,AK127706,AL133033,AL137644,AY338463,NM_015335,AC009321,AC012157,BC130422,CR749332 EAW98081,BAA82977,AAQ08182,BAB14697,BAB15103,CAB61363,CAB70855,NP_056150,AAR08418,AAI30423,CAH18186,Q71F56,Q9H6Z7 Hs.654691 DKFZp781D0112|FLJ21627|KIAA1025|PROSIT240|THRAP2|TRAP240L protein-coding 1343127 MED14 mediator complex subunit 14 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. 1580863 10198638,10235266,16109376,12218053,12037571,10235267,17306756,17081983,16239257,15625066,15302935,15175163,14702039,14638676,14576168,12825353,12509459,12477932,12101254,10508170,10024883,9989412,9734358,9598311,9110174,8710870,8619474,12660246,14636573 9282 NM_004229,AB006652,AC092474,AC093029,CH471141,AB006651,AF070563,AF104256,AF135802,AF304448,AJ012077,AK023368,BC098377,BC132672,BC132674,AK293070 NP_004220,BAA28627,EAW59419,EAW59420,BAA28626,AAD12725,AAD24360,AAG22547,BAF85759,AAH98377,AAI32673,AAI32675,O60244 Hs.407604 GDB:9865776 CRSP150|CRSP2|CSRP|CXorf4|DRIP150|EXLM1|MGC104513|RGR1|TRAP170 protein-coding 1316826 MED15 mediator complex subunit 15 The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Two transcript variants encoding different isoforms have been found for this gene. 1358555,1580863 16799563,16904669,16713569,16189514,15489334,15461802,15455391,15318033,15175163,14983011,14702039,14691453,12497610,12477932,12167862,11414760,11024300,10235267,9225980 1358555 51586 NM_001003891,NM_015889,AC004033,AC005500,AC007050,AC007731,CH471176,AF056191,AF328769,AK000003,AK074230,AK074268,AK090465,AK124276,AK124925,AK126208,AL832923,AW245653,BC003078,BC005027,BC007529,BC013985,BC017110,BX478424,CB988805,CR456537,CR598695,CR611888,U80745,AL832151 NP_001003891,NP_056973,EAX02948,EAX02949,EAX02950,EAX02951,EAX02952,EAX02953,EAX02954,EAX02955,EAX02956,AAC12944,AAK58423,BAA92228,BAB85034,BAC03446,CAH10623,AAH03078,AAH07529,AAH13985,CAG30423,AAB91443,Q69YK5,Q69YR4,Q6PKB8,Q96RN5,Q9NXY2,CAH10580,CAK54568,CAK54867 Hs.517421 GDB:11502433 ARC105|CAG7A|CTG7A|DKFZp686A2214|DKFZp762B1216|FLJ42282|FLJ42935|PCQAP|TIG-1|TIG1|TNRC7 protein-coding 1343143 MED15P mediator complex subunit 15 pseudogene 326615 NG_002605,AL512624 PCQAPP pseudo 1317518 MED16 mediator complex subunit 16 1580863 12477932,11337467,8710870,14576168,14638676,12218053,10198638,10235266,15489334,15175163 10025 NM_005481,XM_001130102,AC112706,CH471139,AF106934,AF121228,AL137732,AU098434,BC004554,BC007853,BC011841,BC017282,BI461485,BQ015734,CB050542 NP_005472,XP_001130102,EAW69586,EAW69587,AAD31087,AAD30032,AAH04554,AAH07853,AAH11841,AAH17282,Q9Y2X0,ABM84604,ABM86859 Hs.365207 DRIP92|THRAP5|TRAP95 protein-coding 1322408 MED17 mediator complex subunit 17 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. 1580863 14702039,12509459,12477932,8710870,15175163,14638676,14576168,14636573,15208681,11504724,10198638,10235266,12584197,12218053,12037571,10235267,9989412,16344560,16109376,15489334 9440 NM_004268,AP001894,CH471065,AF104254,AF105421,AF117657,AK001674,AK022156,AK023209,BC021101,CR604067,DA506467,DA921529 NP_004259,EAW66920,EAW66921,AAD12723,AAD30856,AAD22031,BAA91827,BAB13973,AAH21101,Q9NVC6 Hs.444931 GDB:9956717 CRSP6|CRSP77|DRIP80|FLJ10812|TRAP80 protein-coding 1347067 MED18 mediator complex subunit 18 737633,1580863 12584197,14638676,16344560,15175163,14576168,12477932 737633 54797 NM_017638,NM_001127350,AL353622,CH471059,AB107222,AK000052,BC002694,BG752399,DA090416 NP_060108,NP_001120822,CAI19132,EAX07699,EAX07700,EAX07701,EAX07702,BAD06869,BAA90910,AAH02694,Q9BUE0 Hs.479911 FLJ20045|p28b mediator of rna polymerase ii transcription, subunit 18 homolog (yeast) protein-coding 1344644 MED19 mediator complex subunit 19 737633 15175163,14638676,12584197,12477932,9417904,14576168,15989967 737633 219541 NM_153450,AP000662,CH471076,AY148462,BC009723,BC037223,U92995 NP_703151,EAW73774,EAW73775,EAW73776,AAN16075,AAH09723,AAH37223,A0JLT2 Hs.43619 LCMR1 protein-coding 1606323 MED20 mediator complex subunit 20 14636573,12477932,9933582,14576168,15489334,15175163,14702039,14574404,12838346,12584197 9477 NM_004275,AL160163,CH471081,AF097725,AF116602,AJ420544,AK023092,AK097385,BC012618,BC015189,BC019866,BC032552,BC033498,BC040950,BC063509,BU597139,CR603210,AL050196 NP_004266,CAI23487,CAO72118,EAX04067,EAX04068,AAD16169,AAF71027,BAB14399,CAB43314,AAH12618,AAH19866,AAH32552,AAH40950,Q9H944,Q9P1M4,ABZ92460 Hs.278434 DKFZp586D2223|MGC29869|PRO0213|TRFP protein-coding 1320392 MED21 mediator complex subunit 21 1580863 8598913,12037571,15635413,15489334,15249124,15175163,12477932,11591653,11278802,10024883,9872325,9734358,9710619,9305922,9159119,9121429,8609996,2320128,14636573,16189514,14638676,14576168,15989967 9412 NM_004264,AC092747,CH471094,BC008380,CR456999,CR593127,CR621668,U46837,U52960 NP_004255,EAW96544,EAW96545,EAW96546,EAW96547,AAH08380,CAG33280,AAA98511,AAB06944,Q13503,ABZ92459 Hs.286145 GDB:9956647 SRB7|SURB7 protein-coding 1606332 MED22 mediator complex subunit 22 This gene is located in the surfeit gene cluster, a group of very tightly linked housekeeping genes that do not share sequence similarity. The gene is oriented in a head-to-head fashion with RPL7A (SURF3) and the two genes share a bidirectional promoter. The encoded proteins are localized to the cytoplasm. Two alternative transcript variants encoding different isoforms have been identified for this gene. 12584197,8586415,14638676,15489334,15175163,14759258,12477932,11891058,9740673,9196076,8499913,8482538,14576168 6837 NM_133640,NM_181491,NG_000837,AC002107,AJ224639,AL158826,CH471090,Y17213,AJ224358,AJ224359,AJ224360,AK124518,AK126069,BC024225,BC040111,BI756582,X85178 NP_598395,NP_852468,CAA12052,CAA12053,CAI12827,CAI12829,CAI12830,CAI12831,EAW88056,EAW88057,EAW88058,EAW88059,EAW88060,CAA76691,CAA11915,CAA11916,CAA11917,AAH24225,AAH40111,CAA59462,O75753,Q15528,Q5T8T6,Q5T8T7,Q5T8T8,Q5T8T9 Hs.78354 GDB:138474 MED24|MGC48682|SURF5 protein-coding 1316995 MED23 mediator complex subunit 23 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 17438371,9989412,16964286,16381901,15489336,15175163,14759369,14638676,14574404,12543799,12477932,12421765,12242338,11934987,11230166,11076863,10823961,10574462,10353252,10235267,10235266,15208681,14576168,15893730 9439 NM_015979,NM_004830,NG_007086,AL121575,CH471051,AB033042,AF104255,AF105332,AF135022,AJ420587,AL136776,BC007088,BC060759 NP_057063,NP_004821,CAB92072,CAB92073,CAI23319,CAI23320,CAI23321,EAW48049,EAW48050,EAW48051,EAW48052,BAA86530,AAD12724,AAD31729,AAD30202,CAB66710,AAH07088,AAH60759,Q05DL5,Q5JWT2,Q9ULK4,CAL38449 Hs.29679 GDB:9956704 CRSP130|CRSP133|CRSP3|DKFZp434H0117|DRIP130|SUR2 protein-coding 1348876 MED24 mediator complex subunit 24 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10198638,10235266,12218053,9653119,10235267,17081983,16344560,15896744,15489334,15302935,15175163,14702039,12477932,12189208,11834832,11454195,10406464,10377381,10024883,9637681,8710870,8590280,12837248,15208681,16189514,14638676,14576168 9862 NM_001079518,NM_014815,AC090844,AC102799,CH471152,AF055995,AF277379,AK022508,AK291040,BC011375,CR616444,D50920,DB144359 NP_001072986,NP_055630,EAW60629,EAW60630,EAW60631,AAC39855,AAF78764,BAF83729,AAH11375,BAA09479,O75448,ABM82008,ABM85190 Hs.462983 ARC100|CRSP100|CRSP4|DRIP100|KIAA0130|MGC8748|THRAP4|TRAP100 protein-coding 1347126 MED25 mediator complex subunit 25 17641689,15175163,14983011,14702039,14657022,14638676,12477932,12163014,11230166,10235267,9110174,14576168,15989967 81857 NM_030973,AC006942,AC018766,CH471177,AF261072,AF283769,AF447873,AJ617479,AK055844,AK289460,AL136746,AY533507,BC021543,BC024312,BC065297,BG770032,BI520216 NP_112235,AAD15565,EAW52544,EAW52545,EAW52546,EAW52547,EAW52548,EAW52549,EAW52550,EAW52551,AAM20739,AAG15589,AAQ04648,CAE84581,BAF82149,CAB66680,AAS45401,AAH24312,AAH65297,Q71MG4,Q71SY5 Hs.656639 ACID1|ARC92|DKFZp434K0512|MGC70671|P78|TCBAP0758 protein-coding 1352604 MED26 mediator complex subunit 26 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. 1580863 15989967,9989412,17081983,15175163,14702039,14638676,12477932,12050112,10811649,10235267,14759369,14576168 9441 NM_004831,AC008764,AC024075,CH471106,AF104253,AK128435,BC047040,BC063628,BC105951,BC105952,BC105953,BC110430,BC127214,BC127215,BC143047,CR601122,CR603051 NP_004822,EAW84554,AAD12722,O95402,AAI10431,AAI27216 Hs.356467 GDB:9956719 CRSP7|CRSP70 protein-coding 1349942 MED27 mediator complex subunit 27 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. 12584197,9989412,10882111,15489334,15164053,14702039,12477932,8895530,1020353,15175163,14638676,14576168 9442 NM_004269,AL160271,AL513102,AL603649,AL691506,AL713892,CH471090,AF104252,AF230382,AK022289,BC002878,BC064608,BC070331,CR616414,CR617918,CR620980,DQ099387,Z36848 NP_004260,CAI13386,CAH72546,CAH72529,CAI17283,EAW87989,EAW87990,EAW87991,EAW87992,EAW87993,AAD12721,AAF37290,AAH02878,AAH64608,AAZ13763,Q6P2C8,ABZ92276 Hs.374262 GDB:9956720 CRAP34|CRSP34|CRSP8|MGC11274|TRAP37 protein-coding 1354293 MED28 mediator complex subunit 28 15467741,16899217,17848560,17568184,16964398,16189514,16024617,15489334,15175163,14638676,12584197,12477932,11779215,11591653 80306 NM_025205,AC006160,CH471069,AF317678,AF317679,AF317680,AF318059,AF358829,AL117645,BC011936,CR605440,CR607989,CR618837,CR619532 NP_079481,EAW92781,EAW92782,AAK11563,AAL26906,AAK32724,AAH11936,Q9H204,ABM84317,ABM87712 Hs.434075,Hs.644788 1500003D12Rik|DKFZP434N185|EG1|magicin mediator of rna polymerase ii transcription, subunit 28 homolog (yeast) protein-coding 1351639 MED29 mediator complex subunit 29 17332321,15555573,15175163,14702039,14638676,14576168,12477932 55588 NM_017592,AC005239,AC011500,AC104106,CH471126,AK000411,AK026527,AK090877,AK092909,AK124629,AL137304,AY729650,BC019015 NP_060062,EAW56884,BAA91147,CAB70687,AAU43732,AAH19015,Q9NX70 Hs.611541 DKFZp434H247|IXL protein-coding 1319681 MED30 mediator complex subunit 30 The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. THRAP6 is a component of this complex that appears to be metazoan specific Baek et al. (2002) [PubMed 11909976].[supplied by OMIM] 1580863 11909976,11591653,14576168,10198638,10235266,12218053,10235267,15489334,15175163,14638676,12584197,12477932,12136098 90390 NM_080651,AC024329,AC087361,AJ325138,CH471060,AY083305,BC008226,CR602778 NP_542382,EAW91970,EAW91971,AAL89787,AAH08226,Q96HR3,ABM82444,ABM85634 Hs.492612 MGC9890|THRAP6|TRAP25 protein-coding 1343042 MED31 mediator complex subunit 31 737633,1580863 15383276,16169070,15489334,15175163,14702039,14638676,14576168,12584197,12477932,12149480,11591653,10810093,10024883 737633 51003 NM_016060,AC004706,CH471108,AF151883,AK094033,AK130946,BC012539 NP_057144,EAW90301,AAD34120,AAH12539,Q9Y3C7 Hs.567493 3110004H13Rik|CGI-125|FLJ27436|FLJ36714|Soh1 mediator of rna polymerase ii transcription, subunit 31 homolog (yeast) protein-coding 1354139 MED4 mediator complex subunit 4 17438371,10882111,12218053,10198638,10235267,10235266,16189514,15680972,15489334,15231748,15175163,15057823,14702039,14638676,12584197,12477932,11042152,9373149,8125298,14576168 29079 NM_014166,AL158196,CH471075,AF161475,AF230381,AF300618,AK001934,AK222713,AK223017,BC005189,CR457276,CR541830,CR590107,CR598896,CR601903,CR617886 NP_054885,CAI17018,CAI17019,CAI17020,EAX08783,EAX08784,EAX08785,EAX08786,AAF29090,AAF37289,AAG22542,BAA91987,BAD96433,BAD96737,AAH05189,CAG33557,CAG46629,Q5T911,Q9NPJ6,ABM84002,ABM87332 Hs.181112 DRIP36|FLJ10956|HSPC126|RP11-90M2.2|TRAP36|VDRIP mediator of rna polymerase ii transcription, subunit 4 homolog (yeast) protein-coding 1321116 MED6 mediator complex subunit 6 1580863 10024883,12037571,14638676,15808511,15489334,15175163,14983011,14576168,12584197,12477932,12167862,10508479,10235267,10235266,10198638,9734358,9671713,9373149,9234719,8125298 10001 CR608591,U78082,NM_005466,AL357153,CH471061,AF074723,AF155104,AK222587,AK223346,AK290647,BC004106,BM152825,BT006831,CR541697 AAB84363,O75586,NP_005457,EAW81038,EAW81039,EAW81040,EAW81041,EAW81042,AAC26869,AAD42870,BAD96307,BAD97066,BAF83336,AAH04106,AAP35477,CAG46498 Hs.497353 GDB:9954868 NY-REN-28 mediator of rna polymerase ii transcription, subunit 6 homolog (yeast) protein-coding 1321085 MED7 mediator complex subunit 7 The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. 1580863 17353931,9989412,16189514,15489334,15175163,14638676,12584197,12477932,10377381,10235267,9671713,9420330,14576168 9443 NM_004270,NM_001100816,AC010609,CH471062,AF031383,AF104251,AV711090,BC005250,BC006968,BQ011916,BQ130907,BT007368,CR457009,CR541696,CR617029 NP_004261,NP_001094286,EAW61610,EAW61611,AAC52115,AAD12720,AAH05250,AAP36032,CAG33290,CAG46497,O43513,Q6IAZ5 Hs.279902,Hs.616365,Hs.696637 GDB:9956723 CRSP33|CRSP9|MGC12284 protein-coding 1313646 MED8 mediator complex subunit 8 This gene encodes a protein that is one of more than 20 subunits of the mediator complex, first identified in S. cerevisiae, that is required for activation of transcription. The product of this gene also interacts with elongins B and C, and CUL2 and RBX1, to reconstitute a ubiquitin ligase. Two alternative transcripts encoding different isoforms have been described. 1580863 14638676,16973571,15489334,15175163,14576168,12584197,12477932,12149480,11752456,10235267,9671713 112950 NM_201542,NM_052877,AL139289,CH471059,AF521562,AV684532,BC010019,BC010543,BG620658,CB161514,CR622379 NP_443109,NP_963836,EAX07099,AAM76709,AAH10019,AAH10543,Q5JUY8,Q5JUY9,Q96G25,ABM82714,ABM87828 Hs.301756 ARC32|MGC17544|MGC19641 protein-coding 1349775 MED9 mediator complex subunit 9 The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. 737633,1580863 14638676,15175163,14702039,12477932,11997338 737633 55090 NM_018019,AC073621,CH471196,AK001055,BC000647,BC010906,BC104988,BC112029,CR596182,CR599337,CR623685 NP_060489,EAW55706,EAW55707,BAA91483,AAI04989,AAI12030,Q9NWA0 Hs.244595 FLJ10193|MED25|MGC138234 mediator of rna polymerase ii transcription, subunit 9 homolog (yeast) protein-coding 1322126 MEF2A myocyte enhancer factor 2A The process of differentiation from mesodermal precursor cells to myoblasts has led to the discovery of a variety of tissue-specific factors that regulate muscle gene expression. The myogenic basic helix-loop-helix proteins, including myoD (MIM 159970), myogenin (MIM 159980), MYF5 (MIM 159990), and MRF4 (MIM 159991) are one class of identified factors. A second family of DNA binding regulatory proteins is the myocyte-specific enhancer factor-2 (MEF2) family. Each of these proteins binds to the MEF2 target DNA sequence present in the regulatory regions of many, if not all, muscle-specific genes. The MEF2 genes are members of the MADS gene family (named for the yeast mating type-specific transcription factor MCM1, the plant homeotic genes 'agamous' and 'deficiens' and the human serum response factor SRF (MIM 600589)), a family that also includes several homeotic genes and other transcription factors, all of which share a conserved DNA-binding domain.[supplied by OMIM] 1580548,1580549,1580546,1580863 8575763,1516833,18249389,18160598,18086930,17611778,17579569,17112666,16980305,16951497,16872533,16767660,16563226,16504037,16484498,16469744,16381901,16314281,16195615,16043483,15958500,15861005,15841183,15841171,15834131,15811259,15798210,15496429,15489336,15489334,15466416,15084602,15057983,15043778,14960415,14645853,14630949,12691662,12626519,12586839,12477932,12371907,12061776,11904443,11792813,11316766,11230166,11160896,11076863,10852968,10849446,1748287,8662987,8548800,1329097,16189514,15140898,10825153,10748098,10737771,10531066,10487761,10458488,10330143,9858528,9753748,9418854,8798771,8697817 1580548,1580549,1580546 4205 NM_005587,AC022692,CH471101,U49020,AB208985,AK291835,AL831995,BC013437,BC053871,X63381,X68503,X68505,Y16312 NP_005578,EAX02249,EAX02250,EAX02251,EAX02252,AAB17195,AAB17196,BAD92222,BAF84524,AAH13437,AAH53871,CAA44979,CAA48516,CAA48517,CAA76175,Q02078,Q0JV43,Q59GX4,Q7Z6C9,CAL37617,CAL38731,ABZ92017 Hs.709225 GDB:141533 ADCAD1|RSRFC4|RSRFC9 protein-coding 1342976 MEF2AP myocyte enhancer factor 2A pseudogene 8697817 4206 NG_003072,U44888 GDB:1230389 pseudo 1351770 MEF2B myocyte enhancer factor 2B 1580863 16189514,8575763,1516833,16504037,15567413,15489334,15084602,15057824,14702039,12700764,12477932,11517243,10531067,10458488,9430690,1748287 4207 NM_005919,NG_007432,AC002126,CH471106,AK057161,AK057210,AK128256,BC000489,BC004449,BC010178,BC010931,BC126245,CR593081,CR598286,CR609526,CR621883,X63380,X68502 NP_005910,AAB86982,EAW84788,EAW84789,EAW84790,EAW84791,EAW84792,EAW84793,BAB71373,BAC87356,AAH04449,AAH10931,AAI26246,CAA44978,CAA48515,Q02080,Q6ZRF4,Q96FH0,Q96MC8 Hs.153629 GDB:141535 FLJ32599|FLJ46391|RSRFR2 mads box transcription enhancer factor 2, polypeptide b (myocyte enhancer factor 2b) protein-coding 1349172 MEF2C myocyte enhancer factor 2C 1580863 8455629,8575763,18079734,17903302,17611778,16504037,16478538,16469744,15834131,15831463,15743823,15561718,15340086,15140898,15084602,12477932,12376544,12135755,12130539,12061776,11809751,11792813,11744164,11554755,11535832,11504882,11160896,10805738,10790371,10737771,10523670,10330143,10082551,9858528,9798649,9753748,9748305,9384584,9069290,9001254,8948587,8900141,8663403,8575784,7679508,11486037,16189514,12659851 4208 NM_002397,AC008525,AC008835,CH471084,AL833268,AL833274,BC026341,CR593265,L08895,S57212 NP_002388,EAW95961,EAW95962,EAW95963,EAW95964,EAW95965,EAW95966,EAW95967,EAW95968,AAA59578,AAB25838,Q06413,Q8TAM7,AAI52785,AAI56604,ABZ92163 Hs.699175 GDB:141536 mads box transcription enhancer factor 2, polypeptide c (myocyte enhancer factor 2c) protein-coding 733415 MEF2D myocyte enhancer factor 2D 1580863 8575763,8269842,17158926,17081983,16964243,16356933,16166628,15902271,15834131,15744350,15743823,15489334,15302935,14702039,12896970,12477932,12213324,11904443,11433030,11096067,10944115,10849446,10737771,10523670,9858528,9753748,8798771,10825153 4209 NM_005920,AL139412,AL365181,CH471121,L16795,AB210005,AF086193,AK027180,AK056972,BC018985,BC032479,BC040949,BC054520,BX640792,BX647226,L16794 NP_005911,CAI17184,CAI17185,CAI17186,EAW52948,EAW52949,EAW52950,EAW52951,EAW52952,AAA59579,BAE06087,AAH32479,AAH40949,AAH54520,AAA93194,Q05BX2,Q14814,Q4LE66,Q5IRN4,Q5T9U4,Q5T9U5,Q5T9U6 Hs.314327 GDB:451969 DKFZp686I1536 protein-coding 737570 MEFV Mediterranean fever This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. 1580863 11468188,11115844,18403822,18389382,18353061,18328141,18307385,18300119,18266121,18219832,18177471,18177465,18097735,18061974,18035151,18006045,17964261,17938136,17889261,17711558,17710881,17697637,17696266,17665427,17566872,17489852,17469185,17454935,17276496,17195238,17102945,17090974,17067447,17067442,16907704,16785446,16730661,16721494,16707534,16627024,16614989,16523438,16523434,16498413,16439335,16387839,16378925,16255051,16245224,16225401,16118480,16037825,15958759,15942916,15903027,15805719,15724392,15717684,15674370,15667491,15643295,15458961,15146467,15122067,15071491,15024744,15018633,14985395,14727457,14727057,14679589,14636645,14615741,14595024,14578967,12966608,12955725,12929299,12905488,12762136,12700594,16234278,12687559,12646168,12615073,12477932,12461684,12401847,12384939,12180071,12124996,12105243,12077709,12054656,11781702,11588211,11498534,11484206,11470495,11464248,11464238,11175300,11139244,10854105,10842288,10807793,10787449,10782044,10737995,10666224,10612841,10364520,10234504,10090880,10024914,9735379,9668175,9653642,9572633,9288758,9288094,9177779,9152834 4210 NM_000243,NG_007871,AF111163,AF301150,AF301151,AJ003147,CH471112,AF018080,BC101511,BC101537,Y14441 NP_000234,AAD26152,AAK97223,AAK97224,CAA05906,EAW85382,EAW85383,AAB70557,AAI01512,AAI01538,CAA74793,O15553,Q3MJ84 Hs.632221 GDB:125263 FMF|MEF|MGC126560|MGC126586|TRIM20 protein-coding 1351308 MEG3 maternally expressed 3 MEG3 is a maternally expressed imprinted gene which appears to function as an RNA molecule; multiple splice variants are observed in the available sequence data and a pituitary transcript variant has been associated with inhibited cell proliferation. Studies in mouse and sheep suggest that an upstream intergenic differentially methylated region regulates imprinting imprinting of the region. The expression profile in mouse of the co-regulated Meg3/Gtl2 and Dlk1 genes suggests a causative role in the pathologies found in uniparental disomy animals, characterized by defects in skeletal muscle maturation, bone formation, placenta size and organization and prenatal lethality. The sheep homolog is associated with the callipyge mutation which in heterozygous individuals affects a muscle-specific long-range control element located in the DLK1-GTL2 intergenic region and results in the callipyge muscular hypertrophy. The non-Mendelian inheritance pattern, known as polar overdominance, likely results from the combination of the cis-effect on the expression levels of genes in the DLK1-GTL2 imprinted domain, and trans interaction between the products of reciprocally imprinted genes. 17569660,16793321,16344560,14702039,14602737,12477932,10759892,9110174,8619474 55384 NR_003530,NR_003531,NR_002766,AL117190,AB032607,AF052114,AF119863,AF447875,AJ413186,AJ413187,AK055725,AK057522,AK092504,AK092707,AK098378,AK123878,AK124580,AK127864,AV704361,AY314975,BC023543,BC036602,BC036882,BC051294,BC062783,BC092509,BX161432,BX161452,BX247998,BX248012,CR591136,CR591736,CR592849,CR596535,CR597219,CR598389,CR602474,CR603291,CR603748,CR603886,CR606010,CR607907,CR608449,CR608797,CR609760,CR609941,CR610066,CR610233,CR611497,CR612008,CR612108,CR613369,CR614788,CR615598,CR615599,CR617022,CR618544,CR620087,CR620241,CR620703,CR621793,CR623957,CR624712,CR626265,DB179384 Hs.525589,Hs.654863,Hs.655127 GDB:11500849 FLJ31163|FLJ42589|FP504|GTL2|PRO0518|PRO2160|prebp1 miscrna 1350137 MEG8 maternally expressed (in Callipyge) 8 12107410,11337479 79104 AW026953,CA396130 Hs.648432,Hs.655789 GDB:11508678 protein-coding 1601732 MEGF10 multiple EGF-like-domains 10 18179784,17643423,17498693,16344560,14702039,12477932,12421765,11347906 84466 NM_032446,AC008402,AC008682,AC010424,CH471062,AB058676,AK021631,AK123568,BC020198,BC152478,CR749437,DA240513 NP_115822,EAW62406,EAW62407,BAB47409,AAH20198,AAI52479,CAH18275,Q96KG7 Hs.438709 DKFZp781K1852|FLJ41574|KIAA1780 protein-coding 1603600 MEGF11 multiple EGF-like-domains 11 17498693,16713569,14702039,12975309,12477932,11347906 84465 NM_032445,AC011847,AC084854,AC087382,CH471082,AB058677,AB300051,AK090663,AL834326,AY358226,BC029999,BC117419,BC126313 NP_115821,EAW77754,EAW77755,EAW77756,EAW77757,BAB47410,BAF64841,CAD38994,AAQ88593,AAI17420,AAI26314,A6BM72 Hs.438250 DKFZp434L121|KIAA1781 protein-coding 736662 MEGF6 multiple EGF-like-domains 6 68762,1580863 16710414,12168954,9693030,8889548 68762 1953 NM_001409,AL512413,AL513320,AB011539,AB231860,AF086226,AF086414,BM984873,BU501408,CR615300 NP_001400,CAH70834,CAI14334,BAA32467,BAE19678,O75095,Q4AC86,AAI46387 Hs.593645 GDB:9836962 EGFL3|KIAA0815 megf6 protein-coding 737434 MEGF8 multiple EGF-like-domains 8 68762,1580863 16713569,16335952,15489334,12546731,12477932,9693030 68762 1954 NM_001410,AC011497,AC024078,CH471126,AB011541,AF497566,AK026018,AY280362,BC033228,BC093649,BC111942,BC153880,BF941059,CB122799 NP_001401,EAW57132,EAW57133,BAA32469,AAO85531,AAP35084,AAH33228,AAH93649,AAI11943,AAI53881,Q05BT0,Q7Z7M0 Hs.132483 GDB:9836966 C19orf49|EGFL4|FLJ22365|MGC120684|MGC138147|SBP1 egf-like-domain, multiple 4 protein-coding 1342735 MEGF9 multiple EGF-like-domains 9 68762,1580863 15164053,12975309,12477932,9693030 68762 1955 NM_001080497,AL138836,AB011542,AJ420444,AY358370,BC008313,BC016989 NP_001073966,CAC22313,BAA32470,AAQ88736,Q9H1U4,AAI56249,AAI57030 Hs.494977 GDB:9836967 EGFL5 egf-like-domain, multiple 5 protein-coding 1349359 MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome 9781023 8422 GDB:9955123 1642765 MEI1 meiosis inhibitor 1 16683055,14702039,14668445,12477932 150365 NM_152513,AL021453,AL023879,CH471095,Z83840,AK092934,AK093341,AK094461,AK097834,AK128158,AY952376,AY952377,BC025400,BC029582,BC032248,BC035720,BC070111,CR616456 NP_689726,CAI22918,EAW60465,CAI17919,BAC04138,BAC04361,BAC05179,BAC87303,AAY27427,AAY27428,AAH25400,AAH32248,AAH35720,AAH70111,Q1XAP1,Q1XAP2,Q4G0I1,Q5THQ1,Q6ZRK7,Q8IYJ5,Q8N5K5,Q8N7P9,Q8N9H3,Q8N9Z4,Q8TC68 Hs.116419 MGC40042 protein-coding 1348116 MEIG1 meiosis expressed gene 1 homolog (mouse) 11329013 644890 NM_001080836,AL360083,AA971146,AI694434,BG189536 NP_001074305,CAI40026,Q5JSS6 Hs.257249 bA2K17.3 protein-coding 1315277 MEIS1 Meis homeobox 1 Homeobox genes, of which the most well-characterized category is represented by the HOX genes, play a crucial role in normal development. In addition, several homeoproteins are involved in neoplasia. This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. 1580863 7565694,18216367,18195096,17805329,17637780,16172981,15681849,15654074,15617687,15489334,15479723,15466398,15161102,15160920,15103390,14966272,14702039,14701735,12609849,12477932,11342305,11331288,11161815,10523646,10471746,10373562,10082572,9847074,9405651,9343407,9226379,9049632,8889548 4211 NM_002398,AB040810,AC007392,AC092669,AC093641,CH471053,AI203963,AK098174,AL832770,BC036511,BC043503,CB854199,CR612956,U85707 NP_002389,BAB15814,AAN40012,AAY24268,AAY15006,EAW99892,EAW99893,EAW99894,EAW99895,EAW99896,AAH36511,AAH43503,AAC51642,O00470,Q4G0U8,Q53R57,Q53RD5,Q8IZZ2,Q9HCQ4 Hs.526754,Hs.603755 GDB:5215182 MGC43380 meis1, myeloid ecotropic viral integration site 1 homolog (mouse) protein-coding 1313085 MEIS2 Meis homeobox 2 This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. 17178831,10764806,15489334,15161102,14702039,12477932,11834421,11438208,11279116,10619030,9383298,9049632 4212 NM_170675,NM_170677,NM_170676,NM_170674,NM_172316,NM_172315,AC018563,AC069483,AC078909,CH471125,NM_002399,AF017418,AF178948,AF179896,AF179897,AF179898,AF179899,AK001298,AK055936,AK056038,AK056216,AK056620,AK094531,AK226072,AY349358,BC001516,BC001844,BC007202,BC050431 NP_002390,NP_733775,NP_733777,NP_733776,NP_733774,NP_758527,NP_758526,EAW92343,EAW92344,EAW92345,EAW92346,EAW92347,EAW92348,EAW92349,EAW92350,EAW92351,EAW92352,EAW92353,EAW92354,EAW92356,EAW92357,EAW92358,AAB70270,AAF81638,Q6V703,Q96DI2,Q9NVY4,ABZ92164,AAF81639,AAF81640,AAF81641,AAF81642,BAA91608,AAQ56722,AAH01516,AAH01844,AAH07202,AAH50431,O14770,EAW92355 Hs.510989 GDB:9834323 HsT18361|MGC2820|MRG1 meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse) 2289561 BW440_H protein-coding 1318359 MEIS3 Meis homeobox 3 737633,1580863 17178831,15489334,12477932,9049632,8950991 737633 56917 CR596359,CR612502,CR605977,CR613682,CR613863,NM_001009813,NM_020160,AC073548,CH471126,AB209455,AK098710,AK289950,AL537583,AY091593,BC014430,BC025404,BC042183,BC045741,BC069251,CF993984 Q49A38,Q59FK5,Q8TCW1,Q99687,NP_001009813,NP_064545,EAW57478,EAW57479,EAW57480,EAW57481,EAW57482,EAW57483,BAD92692,BAF82639,AAM09846,AAH25404,AAH45741,AAH69251 Hs.380923 GDB:9834325 DKFZp547H236|MRG2 meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse) protein-coding 1354497 MEIS3P1 Meis homeobox 3 pseudogene 1 This gene appears to be a retrotransposed pseudogene based on its lack of exons compared to other family members, one of which is found on chromosome 19 (MEIS3). It does appear to be transcribed and has an ORF that may encode a protein of similar size and sequence to that encoded by MEIS3. 14702039,9049632,8889548 4213 NR_002211,AC015922,AK054814,BM463727,BQ575773,BU685266,U68385 Hs.356135 MEIS3|MEIS4|MRG2 meis1, myeloid ecotropic viral integration site 1 homolog 4 (mouse) pseudo 1606930 MEIS3P2 Meis homeobox 3 pseudogene 2 257468 NG_002418,AC087499 pseudo 1348772 MELAS mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 4219 GDB:9955855 1319059 MELK maternal embryonic leucine zipper kinase 1300444,1580863 17280616,17960622,17722061,17081983,16216881,15489334,14699119,12477932,12400006,11802789,9373149,9305775,9136115,8724849,8125298 1300444 9833 AL354932,AL442063,CH471071,AB183427,AB183428,AB267395,AK222811,BC014039,CR605252,D79997,NM_014791 Q5T263,NP_055606,EAW58302,EAW58303,EAW58304,BAF73615,BAF73616,BAF74635,BAD96531,AAH14039,BAA11492,Q14680,Q53GX0 Hs.184339 HPK38|KIAA0175 protein-coding 1320537 MEMO1 mediator of cell motility 1 16780588,18045866,15489334,15156151,14702039,12477932,11707072,10810093 51072 NM_015955,AL121652,AL121655,CH471053,AB041018,AB041019,AF132961,AF363446,AF529368,AK022169,AK057760,AK290753,AL161966,BC018733,BC036262,BC070046,BC094681,CR606022,CR609744,CR614281 NP_057039,EAX00467,EAX00468,EAX00469,EAX00470,EAX00471,EAX00472,EAX00473,EAX00474,BAD74066,BAD74067,AAD27736,AAL34462,AAQ09602,BAF83442,AAH18733,AAH70046,AAH94681,Q5R2V8,Q9Y316,ABM82960,ABM86151 Hs.444969 C2orf4|CGI-27|DKFZp434I0135|FLJ25031|MEMO|NS5ATP7 chromosome 2 open reading frame 4 protein-coding 1606647 MEMO1P mediator of cell motility 1 pseudogene 16201836 388822 DQ120661 ABB92445,Q2VIM3 rcC2orf4 pseudo 736443 MEN1 multiple endocrine neoplasia I This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Two variants of the shorter transcript have been identified where alternative splicing affects the CDS. Five variants where alternative splicing takes place in the 5' UTR have also been identified. 1581203,1601326,1601327,1580863 11274402,15331604,14992727,11526476,17353931,12874027,12226747,15640349,15563473,12837246,9989505,16690369,14508515,11500056,9465067,15199122,18314630,18310293,18206547,18084346,18045958,18036394,17953629,17940620,17879353,17853334,17823710,17766710,17766243,17623761,17555500,17526943,17388795,17356705,17194968,17188139,17179192,17138574,17050672,17047380,16997566,16951149,16840830,16604156,16595707,16465412,16368411,16324211,16239140,15944766,15754732,15670192,15635078,15489334,15374998,15292357,15281352,15256779,15254225,15240620,15205994,15150273,15070966,15054094,15034196,15031321,15026366,14985373,14559791,14516745,12915685,12746426,12649288,12509449,12505253,12477932,12459032,12417605,12324758,12213668,12203793,12169273,12145286,12112656,12050235,11956591,11903322,11836268,11786689,11765051,11765049,11740047,11369988,11134142,11027505,10879731,10709111,10647896,10534569,10090472,9888389,9843042,9832038,9792884,9747036,9740255,9683585,9671267,9554741,9498491,9463336,9361035,9341881,9253601,9241276,9215689,9103196,8938448,1968641,16189514,10500243 1581203,1601326,1601327 4221 U93237,NM_130804,NM_130802,NM_000244,NM_130799,NM_130800,NM_130801,AJ132593,AJ132594,AJ132596,AP001462,AY306001,CH471076,AJ297485,AJ297486,AJ297487,AJ297488,AJ297489,BC002544,BC002664,CR598705,CR605845,U93236,Y12338,NM_130803 EAW74308,EAW74309,EAW74310,EAW74311,EAW74312,EAW74313,EAW74314,EAW74315,AAC51229,AAC51230,NP_570715,NP_570716,NP_570714,NP_000235,NP_570711,NP_570712,NP_570713,AAP74572,EAW74303,EAW74304,EAW74305,EAW74306,EAW74307,CAC14129,CAC14130,CAC14131,CAC14132,CAC14133,AAH02544,AAH02664,AAC51228,CAA73007,O00255,Q7Z5Y5,Q9BUF0,Q9GZQ5,Q9UE24,ABM81683 Hs.423348 GDB:120173 MEAI|SCG2 multiple endocrine neoplasia 1 protein-coding 1318950 MEOX1 mesenchyme homeobox 1 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 7987315,17764081,16582099,15793308,15489334,15039437,12477932,11423130,9373945,7874108 4222 NM_001040002,NM_013999,NM_004527,AC004149,AC068675,CH471178,AK291139,AW410297,BC069474,BC069506,BE898972,BG677020,BQ003431,BQ028272,BX284090,U10492,U10493 NP_001035091,NP_054705,NP_004518,EAW51671,EAW51672,BAF83828,AAH69474,AAH69506,AAA19983,AAA19984,P50221,Q15069,ABZ92165 Hs.438 GDB:386073 MOX1 protein-coding 733480 MEOX2 mesenchyme homeobox 2 This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimer's disease. 1580863 9073066,7713505,17957028,17074759,16344560,16335786,16116430,15489334,12853948,12842453,12690205,12477932,11423130,10831122,8266988,7607679,16189514 4223 NM_005924,AC004452,AC005550,CH236948,CH471073,BC017021,BQ025060,CR536553,DA586635,L36328,X82629 NP_005915,AAC06184,AAC33152,EAL24289,EAW93666,AAH17021,CAG38790,AAA58497,CAA57949,P50222,Q6FHY5 Hs.170355 GDB:433888 GAX|MOX2 mesenchyme homeo box 2 protein-coding 735747 MEP1A meprin A, alpha (PABA peptide hydrolase) 1580863 8262185,9288916,17195012,16378686,16344560,12556482,12189145,11301339,11278902,11267665,10898933,10620696,10348167,9914532,9373149,8760356,8660687,8125298,8063866,7774936,7340337,1939172 4224 NM_005588,AL161618,CH471081,AF478685,AK225212,AK290282,AK315840,BC131714,DA432559,M82962 NP_005579,CAC21508,EAX04306,AAL85339,BAF82971,BAF98731,AAI31715,AAA21338,Q16819,Q8TDC9,Q9H1R1 Hs.179704 GDB:371059 PPHA meprin 1 alpha protein-coding 1352087 MEP1AL1 meprin A, alpha-like 1 10405340 10854 GDB:5912688 1342681 MEP1AL2 meprin A, alpha-like 2 10405340 10853 GDB:5912690 1348191 MEP1AL3 meprin A, alpha-like 3 10405340 10852 GDB:5912689 1350793 MEP1AL4 meprin A, alpha-like 4 10405340 10851 GDB:5912691 737385 MEP1B meprin A, beta Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes and in leukocytes and certain cancer cells. Mature meprins are oligomers of evolutionarily related, separately encoded alpha and/or beta subunits. Homooligomers of meprin-alpha (MEP1A; MIM 600388) are secreted; oligomers containing meprin-beta are associated with the plasma membrane. Substrates include bioactive peptides and extracellular matrix proteins. See MIM 600388 for further information on meprins.[supplied by OMIM] 1580863 9288916,17195012,16095909,12941954,12556482,12399461,12387727,12093806,11278902,11267665,9914532,8939981,8760356,8660687,8262185,8063866,7774936,7710697 4225 NM_005925,AC011825,AC015563,CH471088,AY695931,X81333 NP_005916,EAX01284,EAX01285,AAU05377,CAA57107,Q16820 Hs.194777 GDB:371066 protein-coding 1603022 MEPCE methylphosphate capping enzyme 17978174,17643375,14702039,12690205,12477932,12358911 56257 NM_019606,AC092849,AF264752,CH236956,CH471091,AK000264,AK055964,AK291366,BC000556,BC016396,BC018935,CR613286 NP_062552,AAF74767,EAL23834,EAW76534,EAW76535,EAW76536,EAW76537,BAA91040,BAF84055,AAH00556,AAH16396,AAH18935,Q7L2J0 Hs.178011 BCDIN3|FLJ20257 protein-coding 736255 MEPE matrix, extracellular phosphoglycoprotein with ASARM motif (bone) 1580863 10945470,15954904,15329369,15292364,15108058,12791601,12489176,11414762 56955 NM_020203,AC093768,CH471057,AF325916,AJ276396,AK075076,BC128158 NP_064588,EAX06001,EAX06002,EAX06003,AAK70343,CAB97250,BAC11386,AAI28159,Q8NC19,Q9NQ76 Hs.676357 GDB:10796973 OF45 protein-coding 1350045 MER5 antigen identified by monoclonal antibody 2D8 4228 GDB:119385 731631 MERTK c-mer proto-oncogene tyrosine kinase This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). 1582496,1580863 8086340,18250462,18174230,18039660,17047157,17005688,16837475,16710167,16675557,16335952,15733062,15479819,15146197,15130911,15111602,12768229,12477932,11727200,11062461,10343112,8889548,8702477,8621659,7688222,8939948,9891051 1582496 10461 AC093675,AC104651,AF260529,AF366903,CH471245,AK026681,AK026802,AL705756,AW627665,BC114917,BC114918,BM719997,NM_006343,BX474860,CA454601,CN371299,CN371300,CR598172,D16316,U08023 NP_006334,AAY24213,AAX93144,AAG33129,AAK54121,EAW52096,EAW52097,AAI14918,AAI14919,BAA03823,AAB60430,Q07941,Q12866,Q1RMG3,Q53QW0,Q53R53,Q96T45 Hs.306178,Hs.677398 GDB:372686 MER|MGC133349|RP38|c-mer protein-coding 1323243 MESDC1 mesoderm development candidate 1 15489334,12477932,11247670 59274 NM_022566,AC068870,CH471136,AY007810,BC001373,BC084554,CR607674 NP_072088,EAW99108,AAG41058,AAH84554,Q9H1K6 Hs.513071 GDB:10796975 MGC99595 protein-coding 1321194 MESDC2 mesoderm development candidate 2 1580863 11247670,16989816,15917269,15489334,12975309,12581525,12477932,12168954,10737800,10508479,7788527 23184 NM_015154,AC068870,CH471136,CS185566,AK026606,AY359110,BC009210,BC012746,BE004295,CR593224,CR595465,CR597226,CR602580,CR605704,CR611437,CR623809,CR625566,D42039 NP_055969,EAW99109,EAW99110,CAJ42747,AAQ89468,AAH09210,AAH12746,BAA07640,Q14696 Hs.578450 GDB:9784593 BOCA|KIAA0081|MESD protein-coding 1603631 MESP1 mesoderm posterior 1 homolog (mouse) 18297060,12477932,11578861,8787751 55897 NM_018670,AC079075,CH471101,AL357533,AL357534,AL357535,AL357570,AL357571,BC006219 NP_061140,EAX02066,CAB93425,CAB93426,CAB93427,AAH06219,Q9BRJ9,Q9NSF0,ABZ92404 Hs.447531 MGC10676 protein-coding 1606451 MESP2 mesoderm posterior 2 homolog (mouse) The MESP2 gene, a member of the bHLH family of transcriptional regulatory proteins essential to a vast array of developmental processes, is critical for normal somitogenesis in humans.[supplied by OMIM] 16996494,15122512,14516699,12477932,11578861 145873 NM_001039958,AC079075,BK000142,AL360139,BC111413 NP_001035047,DAA00304,AAI11414,Q0VG99 Hs.37311 SCDO2 protein-coding 1345318 MEST mesoderm specific transcript homolog (mouse) This gene encodes a member of the [alpha]/[beta] hydrolase fold family and has isoform specific imprinting. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Three transcript variants encoding two distinct isoforms have been identified for this gene. A pseudogene for this locus is located on chromosome 6. 17353931,9158153,17450433,16338457,15547750,12754712,12690205,12477932,12095916,12023987,11920156,11821432,11754049,11718568,11536368,10958657,10955473,10860668,10679925,10631159,10554015,9781054,9526615,9192843,8884280 4232 NM_177524,NM_177525,NM_002402,AB045582,AC007938,CH236950,CH471070,AK098397,BC002413,BC011908,BC014564,BC018695,BC090049,BI459412,BT007056,CR457040,CR590807,CR593946,CR594758,CR598757,CR609130,CR611176,CR613901,CR627364,D78611,D87367,Y11534 NP_803490,NP_803491,NP_002393,BAC02716,EAL24086,EAL24087,EAW83765,EAW83766,EAW83767,AAH02413,AAH11908,AAH14564,AAH18695,AAH90049,AAP35705,CAG33321,CAH10465,BAA11432,BAA21757,CAA72297,Q5EB52,ABM81688,ABM83690,ABM84851,ABM87003 Hs.270978 GDB:1220263 DKFZp686L18234|MGC111102|MGC8703|PEG1 protein-coding 1354193 MESTIT1 MEST intronic transcript 1 Imprinted gene(s) on human chromosome 7 are thought to be involved in Russell-Silver syndrome (SRS; MIM 180860), based on the fact that 10% of patients have maternal uniparental disomy of chromosome 7. However, involvement of the known imprinted genes GRB10 (MIM 601523), PEG10, and MEST (MIM 601029) in SRS had yet to be established.[supplied by OMIM] 14962666,12746419,12095916,11821432 317751 NR_004382,AF482998 PEG1-AS miscrna 1605813 MESTP1 mesoderm specific transcript homolog (mouse) pseudogene 1 338470 NG_002694,AL445439 pseudo 70824 MET met proto-oncogene (hepatocyte growth factor receptor) The proto-oncogene MET product is the hepatocyte growth factor receptor and encodes tyrosine-kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce the alpha and beta subunits, which are disulfide linked to form the mature receptor. Various mutations in the MET gene are associated with papillary renal carcinoma. Two transcript variants encoding different isoforms have been found for this gene. 1600122,1600123,1600124,70557,1580863,1642762 10871856,11571281,2819873,15314156,1846706,18316611,18272501,18258742,18192688,18187039,18180459,18093943,18063891,18059365,18053801,18025083,17981731,17804715,17704785,17702746,17696172,17689924,17684486,17673463,17662939,17611703,17593080,17463250,17459054,17372204,17332337,17322284,17243166,17215249,17192257,17132227,17079873,17062664,17062641,17053076,16953230,16951184,16912172,16891453,16870139,16857786,16804974,16710476,16709175,16627020,16547140,16537444,16498238,16455654,16426920,16403482,16331686,16278380,16216128,16192631,16186806,16158056,16139245,16099863,16039997,15980634,15911745,15870272,15849510,15828871,15772665,12709413,12707786,12690205,12686592,12682635,12651912,12646256,12611639,12595309,12594808,12538453,12524084,12477932,12475979,12460923,12244174,12233882,12198496,12183053,12168776,12147692,11948964,11895493,11894096,11864613,11839685,11750879,11741535,11063574,10995442,10734310,10069803,9927037,9847074,9837958,9660480,9440692,9326629,9140397,8947043,8662889,8662733,8380735,8302603,8294430,8247543,7961992,7866434,7731718,7708691,7513258,12726861,12716900,15760460,15720819,15717924,15678502,15672865,15659325,15632204,15596854,15590419,15579033,15516982,15504247,15492846,15466866,15448002,15339794,15327888,15302591,15287857,15254691,15192042,15184888,15173072,15161909,15123705,15123609,15075332,14719064,14627992,14559966,14528000,14524531,14519655,14509156,14508824,12915129,12884908,12883672,12856716,12853948,12847110,12793903,12766170,12746450,7511210,4069211,3821733,3325883,1827664,1655790,1655405,1611909,11254878,14684163,15735664,15261143,15161915 1600122,1600123,1600124,70557,1642762 4233 NM_000245,NM_001127500,AC002080,AC002543,AC004416,CH236947,CH471070,M15325,M35073,AA278232,AB209898,AF075090,AI630755,AK025784,BC016592,BC027979,BC130420,BX648782,J02958,M35074,U11813,X54559 NP_000236,NP_001120972,AAB54047,AAC60383,AAF66137,EAL24359,EAW83507,EAW83508,EAW83509,EAW83510,EAW83511,AAA59585,AAA59589,BAD93135,AAH27979,AAI30421,AAA59591,AAA59590,AAA68513,CAB56793,P08581,Q14825,Q59EB3,Q9UEJ3,Q9UMU9 Hs.132966 GDB:120178 AUTS9|HGFR|RCCP2|c-Met protein-coding 1313634 METAP1 methionyl aminopeptidase 1 1580863 16386852,17353931,14532271,17929833,17114291,16344560,16274222,15635413,15592455,15489334,12477932,12144506,7788527 23173 NM_015143,AC019131,CH471057,BC030054,D42084,DA178462,CR936632 NP_055958,EAX06082,EAX06083,AAH30054,BAA07679,P53582,Q5CZ91,CAI56775 Hs.480364 GDB:9784658 DKFZp781C0419|KIAA0094 protein-coding 732103 METAP2 methionyl aminopeptidase 2 This gene is a member of the methionyl aminopeptidase family and encodes a protein that binds 2 cobalt or manganese ions. This protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent protein. Increased expression of this gene is associated with various forms of cancer and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. A pseudogene of this gene is located on chromosome 2. 1580863 8858118,15102683,17446530,16790550,16632353,16386852,16274222,16267007,16160854,15962312,15814649,15544353,15489334,15336565,15126329,14702039,14532271,12718546,12581743,12477932,12118091,11994292,11485930,11123929,10388536,9860943,9812898,9177176,8098621,7873610,7738010,7644482,15782160 10988 NM_006838,AC018475,CH471054,AK055692,AK091730,AK125296,BC013782,BC016008,CR591800,CR601954,CR614506,CR620412,DW409106,U13261 NP_006829,EAW97537,EAW97538,EAW97539,BAC03733,AAH13782,AAH16008,AAC63402,P50579,Q8NB11,Q96B43,ABM81939,ABM85119 Hs.591005 GDB:11500891 MAP2|MNPEP|p67|p67eIF2 methionine aminopeptidase 2 protein-coding 1353878 METRN meteorin, glial cell differentiation regulator Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM] 15616553,15489334,15085178,14702039,12477932,11157797 79006 NM_024042,AE006464,CH471112,Z97653,AK057053,AL360260,BC000662,CR612756 NP_076947,AAK61247,EAW85747,EAW85748,CAB56188,AAH00662,Q9UJH8 Hs.533772,Hs.595243 C16orf23|MGC2601|c380A1.2 protein-coding 1348183 METRNL meteorin, glial cell differentiation regulator-like 14702039,12477932 284207 NM_001004431,A75737,AC130371,CH471099,AK093748,BC050568,BC082252,BC118558,BC118638 NP_001004431,CAB58552,EAW89833,AAH50568,AAH82252,AAI18559,AAI18639,Q147U6,Q641Q3 Hs.591142 MGC99788 protein-coding 1604299 METT10D methyltransferase 10 domain containing 18021804,16344560,14702039,12477932 79066 NM_024086,AC006435,AC015799,CH471108,AK027410,AL832612,BC001213,BC050603,BX647255,DB227557 NP_076991,EAW90537,EAW90538,EAW90539,BAB55094,CAD89999,AAH01213,AAH50603,Q86W50 Hs.632237 MGC3329 protein-coding 1601980 METT11D1 methyltransferase 11 domain containing 1 16713569,16189514,12477932,11278769 64745 NM_001029991,NM_022734,AF321003,AL355922,CH471078,AF321002,AK024512,BC005053,BG437086,CR591282,CR593535,CR599298,CR601144,CR605494,CR607443,CR610640,CR612311,CR614515,CR623009,CR626316,CR626126,CR626514,U56431 NP_001025162,NP_073571,AAK08201,EAW66432,EAW66433,EAW66434,AAK08200,BAB14919,AAH05053,Q9H7H0 Hs.512693 FLJ20859 protein-coding 1604216 METT5D1 methyltransferase 5 domain containing 1 16344560,14702039,12477932 196074 NM_152636,NM_001113528,AC023206,AC087376,AC104978,CH471064,AK091298,AL832668,BC030997,BC066900,BC105287,CR601005,DB327106,DB458698 NP_689849,NP_001107000,EAW68266,EAW68267,EAW68268,EAW68269,BAC03631,AAH30997,AAI05288,A6NJ78 Hs.243326 FLJ33979 protein-coding 1605185 METT5D2 methyltransferase 5 domain containing 2 401095 XM_376278 XP_376278 protein-coding 1352209 METTL1 methyltransferase like 1 This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. 1580863 10329009,12403464,16189514,15861136,15489334,12539042,12477932,9373149,8125298,7566098 4234 NM_005371,NG_007076,AC025165,CH471054,Y18642,AA317248,AI168455,AK223202,AK314851,BC000550,BG420288,BQ651940,NM_023033,CR595086,W56190,X96698,Y18643 NP_075422,NP_005362,EAW97066,EAW97070,EAW97071,CAA77238,BAD96922,BAG37368,AAH00550,CAA65470,CAA77239,Q53FS9,Q9UBP6 Hs.42957 GDB:9478350 C12orf1|FLJ95748|TRM8|YDL201w methyltransferase-like 1 protein-coding 1604914 METTL10 methyltransferase like 10 14702039,12477932 399818 NM_212554,AC068896,AF318345,AK022354,AL832292,BC026167,CR604214 NP_997719,AAL55852,CAI46179,AAH26167,Q5JPI9,Q8TC28,Q8WYV4 Hs.468488 protein-coding 1601800 METTL2A methyltransferase like 2A 16625196,16344560,15489334,15342556,14702039,12477932,11042152 339175 NM_001005372,NM_181725,AC008026,AF161384,AF161385,AK000991,AK022822,BC006985,BF975211,BP255803,CR595349,DA027807 NP_001005372,NP_859076,AAF28944,AAF28945,BAB14260,AAH06985,Q96IZ6,Q9P0B4 Hs.381204 FLJ12760|METTL2 protein-coding 1350099 METTL2B methyltransferase like 2B This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 16625196,15489334,15342556,14702039,12975309,12477932,11738826,11042152 55798 NM_018396,AC010655,AC090114,AK002212,AK125539,AY358237,BC064929,BC107586,BC121115,BC121116,BP247182,CR591884 NP_060866,BAA92136,AAQ88604,AAH64929,AAI07587,AAI21116,AAI21117,Q6P1Q9,Q6UXR5 Hs.433213 FLJ11350|FLJ12760|METL|METTL2|METTL2A|PSENIP1 protein-coding 1348378 METTL3 methyltransferase like 3 This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. 1580863 9409616,16964243,15489334,14702039,12508121,12477932,12355263,11470232 56339 NM_019852,NG_001332,AE000658,AF014837,AF283991,CH471078,AK000222,AK093509,AK097873,AK098655,BC001650,BC003031,BC014427,BC052244,BX247964,CR591477,CR591863,CR593531,CR594281,CR598589,CR600918,CR606689,CR613091,CR621767,CR626750,CR590636 NP_062826,AAB71850,AAG13956,EAW66379,AAH01650,AAH03031,AAH52244,CAD62303,Q86U44,ABZ92354 Hs.168799 M6A|MGC4336|MT-A70|Spo8 protein-coding 1346719 METTL4 methyltransferase like 4 737633 15489334,14702039,12477932,8889548 737633 64863 NM_022840,AP005136,CH471113,AK022584,AK026670,AK290001,AL834296,BC056270,BC111020,BC136766,BI489580,BI771801,BM828675,BU741018,BX647373 NP_073751,EAX01698,BAB15520,BAF82690,CAD38969,AAI11021,AAI36767,Q8N3J2 Hs.126888 FLJ23017|HsT661|MGC117235 protein-coding 1606016 METTL5 methyltransferase like 5 15815621,15489334,14702039,12477932,11042152 29081 NM_014168,AC009967,CH471058,AF161482,AF201938,AK001321,BC000921,BC093014,CR609377,CR616340 NP_054887,AAY14869,EAX11252,EAX11253,EAX11254,EAX11255,AAF29097,AAF86874,BAA91622,AAH00921,AAH93014,Q9NRN9,Q9P027 Hs.470553 FLJ10459|HSPC133 protein-coding 1605295 METTL6 methyltransferase like 6 15489334,14702039,12477932 131965 NM_152396,AC027125,CH471055,AK057791,BC022400,BG701912,CR612029 NP_689609,EAW64232,EAW64233,BAB71574,AAH22400,Q8TCB7,ABM82944,ABM86134 Hs.149487 MGC24132 protein-coding 1601879 METTL7A methyltransferase like 7A 15489334,14702039,12975309,12477932,9373149,8125298 25840 NM_014033,AC008121,CH471111,CS072370,AF113007,AJ536233,AK023693,AK024409,AK130665,AK225595,AK225689,AL050159,AY358797,BC004492,BC008180,BM805242,CR612149 NP_054752,EAW58154,EAW58155,EAW58156,CAI93508,AAF20268,CAD60207,BAB14643,BAB14913,CAB43300,AAQ89157,AAH04492,AAH08180,Q9H8H3 Hs.653847,Hs.696176 AAM-B|DKFZP586A0522 protein-coding 1603260 METTL7B methyltransferase like 7B 15489334,12975309,12477932 196410 NM_152637,AC009779,CH471054,AK290112,AY358508,BC020509,CR595874 NP_689850,EAW96818,BAF82801,AAQ88872,AAH20509,Q6UX53 Hs.51483 MGC17301 protein-coding 1605633 METTL8 methyltransferase like 8 14702039,12477932 79828 NM_024770,AC007739,AC007969,AC008065,CH471058,AI129960,AK023396,AK024046,AK055616,AK093218,AK124092,AK292108,BC025250,CR595622,CR612022,CR614132,DC349499 NP_079046,AAX93284,AAX93077,EAX11214,EAX11215,EAX11216,EAX11217,BAB14797,BAF84797,AAH25250,Q9H825 Hs.135146 FLJ13334|FLJ13984|FLJ31054|FLJ42098|FLJ77788|TIP protein-coding 1602890 METTL9 methyltransferase like 9 16303743,12477932,11132146,10810093,16837177,16730941 51108 NM_001077180,AC005632,AC092719,AJ278581,CH878403,CQ782469,CQ783008,AF151839,AF497245,AJ278577,AJ278578,AK025565,AK074529,AK075022,AK075237,NM_016025,BC000195,BM149762,BU621488,BX647201,CR615766 NP_057109,NP_001070648,CAC20439,EAW50517,EAW50518,EAW50519,EAW50520,EAW50521,EAW50522,CAF85755,CAF86217,AAD34076,AAM18072,CAC20437,CAC20438,BAC11042,BAC11356,BAC11490,AAH00195,Q8TD49,Q9H1A3 Hs.279583 CGI-81|DREV|DREV1|FLJ21912|PAP1 protein-coding 1625811 MEX3A mex-3 homolog A (C. elegans) 17267406,14702039 92312 NM_001093725,AL355388,AK024097,AK095491,AK125482,AY950677,BC033283,CX873216 NP_001087194,AAY34145,A1L020 Hs.591496 MEX-3A|RKHD4 protein-coding 1346115 MEX3B mex-3 homolog B (C. elegans) 737633,1580863 17267406,16381901,15761153,15489336,15489334,14702039,12477932,11256614,11230166,11076863 737633 84206 NM_032246,AC026956,CH471136,AB095929,AK094145,AK094633,AK131424,AL136778,AY950678,BC036211,BC111545,CR605617 NP_115622,EAW99090,BAC23105,BAD18571,CAB66712,AAY34146,AAH36211,AAI11546,Q0JS40,Q0JUB8,Q6ZN04,CAL37893,CAL38674 Hs.104744 DKFZp434J0617|MEX-3B|MGC117199|RKHD3|RNF195 protein-coding 1319133 MEX3C mex-3 homolog C (C. elegans) 737633,1580863 17267406,17015768,16177791,15489334,14702039,12477932 737633 51320 NM_016626,AC090330,CH471096,AF208855,AK096190,AL833519,AW079942,AY950679,BC032952,BC041122,BC063244 NP_057710,EAW62989,AAF64269,AAY34147,AAH41122,Q5U5Q3,AAI46417,AAI48856 Hs.465144 BM-013|FLJ38871|MEX-3C|RKHD2|RNF194 protein-coding 1321562 MEX3D mex-3 homolog D (C. elegans) 17267406,15489334,14769789,12477932 399664 NM_001085363,NM_203304,AC005943,AC027307,CH471139,AB062435,AB107353,AF458084,AY950680,BC113384,BC113741,CB218195,CB218196,DQ225272,DQ225273 NP_001078832,NP_976049,EAW69483,BAB93498,BAC67658,AAQ04763,AAY34148,AAI13385,AAI13742,ABB04031,ABB04032,Q38IJ5,Q38IJ6,Q86XN8,Q8NI85 Hs.436495 KIAA2031|MEX-3D|MEX3|OK/SW-cl.4|RKHD1|RNF193|TINO protein-coding 1346735 MF4 metacarpal 4-5 fusion 4235 GDB:119386 1321226 MFAP1 microfibrillar-associated protein 1 1580863 17081983,16565220,15345747,15324660,15302935,12477932,7835894,11799066 4236 NM_005926,AC018512,CH471082,BC023557,BC050742,BF981568,CR600815,CR603002,U04209 NP_005917,EAW77247,AAH23557,AAH50742,AAA92786,P55081,Q86TG6,ABM84315,ABM87708 Hs.61418 GDB:355918 protein-coding 1314413 MFAP2 microfibrillar-associated protein 2 Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. This gene encodes two transcripts with two alternatively spliced 5' untranslated exons. These two transcripts contain the same 8 coding exons, and therefore, encode the same protein. 16492672,15489334,15233806,15044481,12477932,11796718,17692555,16710414,11723132,11284693,11481325,10664011,9373149,9278443,8761465,8125298,7759096,3015971,16189514 4237 NM_017459,NM_002403,AJ009948,AL049569,CH471134,U19719,AK222751,BC015039,BC028033,CR407678,CR590231,CR597163,CR619798,CR619947,U19718 NP_059453,NP_002394,CAB96824,CAI20368,EAW94818,EAW94819,EAW94820,EAW94821,EAW94822,EAW94823,BAD96471,AAH15039,CAG28606,AAA79920,P55001,Q53X60,Q5JXY0,ABM86468,ABW03655 Hs.389137 GDB:371693 MAGP|MAGP-1|MAGP1 protein-coding 1350797 MFAP3 microfibrillar-associated protein 3 1580863 15489334,14702039,12477932,7782085 4238 NM_005927,AC010232,AC022088,CH471062,L35251,AK000358,BC026244 NP_005918,EAW61645,AAC41753,BAA91108,AAH26244,P55082,ABM82905,ABM86096 Hs.432818 GDB:371694 protein-coding 1322643 MFAP3L microfibrillar-associated protein 3-like 737633,1580863 15489334,12477932,9734811 737633 9848 NM_001009554,AC084866,CH471056,AB014526,AF327560,AK290041,AW015769,AY391838,BC001279,NM_021647,BC066912,BM552945 NP_067679,NP_001009554,AAY41028,AAY41029,EAX04773,EAX04774,EAX04775,BAA31601,AAK15700,BAF82730,AAS55434,AAH01279,AAH66912,O75121,Q4W5N7,Q4W5N9 Hs.593942 NYD-sp9 protein-coding 1317270 MFAP4 microfibrillar-associated protein 4 This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. 1580863 7633408,17539903,16867155,16335952,15489334,15340161,12477932,10542261 4239 NM_002404,AC124066,CH471212,CS208039,AK293056,BC035560,BC047725,BC062415,BI765707,BQ017631,CR592740,CR594997,CR595863,CR597747,CR598399,CR599644,CR599684,CR599896,CR604299,CR604850,CR605610,CR610875,CR611587,CR613174,CR617970,CR620310,CR620840,CR621699,CR625505,L38486 NP_002395,EAW50888,EAW50889,EAW50890,CAJ44945,BAF85745,AAH62415,AAB00968,P55083 Hs.296049 GDB:409941 protein-coding 1317391 MFAP5 microfibrillar associated protein 5 This gene encodes a 25-kD microfibril-associated glycoprotein which is rich in serine and threonine residues. It lacks a hydrophobic carboxyl terminus and proline-, glutamine-, and tyrosine-rich regions, which are characteristics of a related 31-kDa microfibril-associated glycoprotein (MFAP2). The close similarity between these two proteins is confined to a central region of 60 aa where precise alignment of 7 cysteine residues occurs. The structural differences suggest that this encoded protein has some functions that are distinct from those of MFAP2. 1580863 8889548,8557636,16492672,15489334,12878157,12477932,12122015,9792630 8076 NM_003480,AC092184,AC092490,AF084918,AF084919,AF084920,AF084921,AF084922,AF084923,AF084924,AF084925,AF084926,AF084927,CH471116,AK124368,AK290585,AK315807,AL833019,AU280458,AY339060,BC005901,BM678444,CR603417,CR605401,CR609578,CR619112,U37283 NP_003471,AAC83942,EAW88613,EAW88614,BAF83274,BAF98698,AAQ18021,AAH05901,AAA96752,Q13361,Q7Z490 Hs.512842 MAGP2|MP25 protein-coding 736002 MFGE8 milk fat globule-EGF factor 8 protein 1582497,1580863 8639264,18160406,17906662,17679143,17637751,17420351,16344560,16115445,15478463,14702039,14561811,12670504,12477932,12000961,11856354,11787681,10411933,9773837,9643686,9535276,9373149,9260929,9101712,9027496,8889548,8125298,1909932 1582497 4240 NM_005928,NM_001114614,AC067805,CH471101,AK095908,AK222735,AK223182,AU134066,AY141974,BC003610,BT006948,BU726667,BX537974,CR590960,CR591207,CR592072,CR592357,CR595108,CR603150,CR609258,CR622104,CR624080,CR624954,S56151,U58516 NP_005919,NP_001108086,EAX02025,EAX02026,EAX02027,EAX02028,EAX02029,EAX02030,BAD96455,BAD96902,AAN08508,AAH03610,AAP35594,CAD97938,AAB19771,AAC50549,Q08431,Q7Z3D2,Q9BTL9 Hs.3745 GDB:4568283 BA46|EDIL1|HsT19888|OAcGD3S|SED1 protein-coding 1318798 MFHAS1 malignant fibrous histiocytoma amplified sequence 1 Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. 1599928,1580863 16094384,14702039,14691450,12477932,9973190 1599928 9258 NM_004225,AC090567,CH471157,AB016816,AK027007,AK096504,BC014226,CR625839 NP_004216,EAW65566,BAA74737,AAH14226,Q9Y4C4 Hs.379414 GDB:9955555 FLJ23354|MASL1 protein-coding 1317764 MFI2 antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. 1580863 17227112,17196552,16713448,16704991,16449195,16449192,16449191,15716025,15489334,14702039,12860420,12809550,12750156,12710945,12477932,12230555,11852110,11337467,10737800,10691965,9176405,8705293,8300636,7556058,6843660,3754536,3010712,2540389,2463331,1633859,1544447,2419904,17570828,17452986,17449903 4241 BC001875,BC002623,BC007550,BC032752,BC053510,BC071910,NM_005929,NM_033316,AC068302,CH471191,AK096182,AU099352,AW083943,BC111947,BQ332373,BT007377,CR601211,M12154,A00127,BC093920 AAH01875,AAH02623,AAH07550,AAH71910,NP_005920,NP_201573,EAW53616,EAW53617,AAH93920,AAI11948,AAP36041,AAA59992,P08582,Q53XS6,CAA00012,AAI52833 Hs.184727,Hs.694355 GDB:119387 CD228|FLJ38863|MAP97|MGC4856|MTF1 protein-coding 731663 MFN1 mitofusin 1 The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. 17718388,15961417,15509649,15489334,14702039,12759376,12477932,12475957,11950885,11751411,11181170,9230308,9110174,8619474,8358434 55669 NM_033540,AC007620,AC007823,CH471052,AB043588,AB043589,AF054986,AF329637,CR627379,U95822,AI656503,AK000700,BC020661,BC040557 NP_284941,EAW78406,EAW78407,EAW78408,EAW78409,EAW78410,EAW78411,EAW78412,BAE16564,BAE16565,AAC09347,AAK06840,CAH10476,AAB64220,Q05CV7,Q4AEJ3,Q4AEJ4,Q6AI38,Q8IWA4,BAA91327,AAH20661,AAH40557 Hs.478383 DKFZp762F247|FLJ20693|MGC41806|hfzo1|hfzo2 protein-coding 732569 MFN2 mitofusin 2 This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. 1580863,1601409,1601408 11181170,15322553,18490623,18458227,18425620,18336293,18316077,18092941,17940179,17874344,17828388,17718388,17537722,17437620,17309650,17215403,16762064,16710414,16437557,16160866,16123358,16087932,16083859,16043786,15961417,15878861,15829499,15549395,15489334,15382611,15064763,14702039,12759376,12598526,12499352,12477932,11950885,9039502 1601409,1601408 9927 NM_014874,NM_001127660,AL096840,CH471130,AF036536,AI857365,AK001189,AK021947,AK022453,AK289828,AL122114,AL137666,AY028429,BC017061,BU178912,D86987,DC401346 NP_055689,NP_001121132,CAI19086,CAI19087,CAI19088,EAW71726,EAW71727,AAD02058,BAF82517,CAB70866,AAK18728,AAH17061,BAA34389,O95140,ABM85107,ABW03721,Q5JXC5 Hs.709237 CMT2A|CMT2A2|CPRP1|HSG|KIAA0214|MARF 1643585 SGHRL1_H protein-coding 1349900 MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase This gene is a member of the fringe gene family which also includes Radical and Lunatic fringe. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta1,3 N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. 1302739,1580863 9207795,9187150,15489334,15461802,15280477,12486116,12477932,12036964,11978185,11346656,10935626,10640833,10591208,10341080,9878264 1302739 4242 NM_002405,CH471095,Z93096,AK292123,BC094814,CR456518,CR594059,CR604551,CR605939,CR611297,U94352 NP_002396,EAW60161,EAW60162,CAB07511,BAF84812,AAH94814,CAG30404,AAC51358,O00587,CAK54549,CAK54848 Hs.517603 GDB:9508546 manic fringe homolog (drosophila) protein-coding 1316695 MFRP membrane frizzled-related protein 11263980,18363166,18334955,17167404,16442268,16352475,16123440,15976030,14702039,12944416 83552 NM_031433,AP003396,CH471065,EF444994,AB055505,AJ862823,AK055132 NP_113621,EAW67483,ACA06013,BAB39771,CAH93521,BAB70859,Q9BY79,AAI60191 Hs.679518 GDB:11504513 C1QTNF5|FLJ30570|NNO2|rd6 protein-coding 1346472 MFSD1 major facilitator superfamily domain containing 1 737633,1580863 15489334,14702039,12477932 737633 64747 NM_022736,AC080013,AC128694,CH471052,AB014732,AF351617,AK023478,AK024215,BC017661,BC030542,BC042197,CR603081,CR612957 NP_073573,EAW78672,EAW78673,EAW78674,BAB20269,AAN76517,BAB14852,AAH30542,AAH42197,Q9H3U5 Hs.58663 FLJ14153|UG0581B09 protein-coding 1604055 MFSD10 major facilitator superfamily domain containing 10 8353488,17362938,12477932 10227 NM_001120,AL390065,CH471131,BC001502,BC014979,BC023537,CR592738,CR594805,CR595403,CR599208,CR599486,CR600857,CR601259,CR607301,CR607704,CR609779,CR610651,CR614036,CR615910,CR617179,CR617483,CR617484,CR622686,CR624236,CR624960,CR626767,L11669 NP_001111,CAM21300,EAW82496,EAW82497,AAH01502,AAH14979,AAA36729,Q14728,ABW03844,ABW03540 Hs.632581 IT10C3|TETRAN|TETTRAN|TPO1 tetracycline transporter-like protein protein-coding 1603960 MFSD11 major facilitator superfamily domain containing 11 12477932,9358160 79157 NM_024311,AC005837,AC027694,CH471099,AF015183,AF015184,AF015185,AF015186,AF015187,AF015188,AF015189,AF015190,AK000233,AK025849,BC002753,BC062563 NP_077287,EAW89449,EAW89450,EAW89451,EAW89452,EAW89453,EAW89454,AAB92495,AAB92496,AAB92497,BAA91025,AAH02753,AAH62563,O43934,ABM87232 Hs.73965 ET|FLJ20226|FLJ22196 protein-coding 1606200 MFSD2 major facilitator superfamily domain containing 2 17145094,16710414,16303743,15498874,15489334,15221005,14702039,12975309,12477932 84879 AK291540,AL834184,AY358636,BC006353,BC011587,BC092414,CR598887,CR608085,CR611403,CR621139,CR621487,AK093223,NM_032793,AL663070,CH471059,CQ783264,AB073383,AF289609,AF370364,AF370393,AK027396,AK074186,AK075183 BAC04100,BAF84229,AAQ88999,AAH06353,AAH11587,AAH92414,Q5SSK0,Q71RE4,Q8NA29,Q96K60,NP_116182,CAI20267,CAI20268,CAI20269,EAX07246,EAX07247,EAX07248,EAX07249,CAF86469,BAD38634,AAL55793,AAQ15200,AAQ15229,BAB55082,BAC11456 Hs.655177 FLJ14490|FLJ35904|FP1147|HMFN0656|PP10484|RP3-342P20.1 protein-coding 1605597 MFSD3 major facilitator superfamily domain containing 3 16189514,15489334,12477932 113655 NM_138431,AC084125,CH471162,BC011982,CR591691,CR598690,CR603323,CR606243,CR613403,CR615104,CR616596,CR620962,CR622519,CR623012 NP_612440,EAW82072,EAW82073,EAW82074,EAW82075,EAW82076,AAH11982,Q96ES6 Hs.7678 protein-coding 1605282 MFSD4 major facilitator superfamily domain containing 4 15489334,14702039,12975309,12477932 148808 AK091896,NM_181644,AC096533,CH471067,AK057733,AK090831,AK127321,AL713676,AY358107,BC016377,BC036549,CR599236,DC317463 NP_857595,EAW91564,EAW91565,EAW91566,EAW91567,EAW91568,EAW91569,BAC03767,CAD28481,AAQ88474,AAH16377,AAH36549,Q8N468,Q96KX6 Hs.567714 DKFZp564C1416|DKFZp761N1114|FLJ25004|FLJ34577|FLJ45392|UNQ3064 protein-coding 1605912 MFSD5 major facilitator superfamily domain containing 5 16303743,15489334,14702039,12975309,12477932,9373149,8125298 84975 NM_032889,AC021072,CH471054,CQ782634,AK074684,AK097576,AK225998,AY358604,BC007703,BC067795,BX640649 NP_116278,EAW96679,EAW96680,CAF85892,BAC11137,BAC05108,AAQ88967,AAH07703,AAH67795,CAE45795,Q6N075 Hs.654660 MGC11308 protein-coding 1604571 MFSD7 major facilitator superfamily domain containing 7 15498874,15489334,14702039,12975309,12477932 84179 NM_032219,AC107464,CH471131,AK025922,CR609503,CR626001,AK292010,AY203936,AY358401,BC030246,CR600243 NP_115595,EAW82658,EAW82659,BAB15283,Q6UXD7,BAF84699,AAP34459,AAQ88767,AAH30246 Hs.567612 FLJ22269|LP2561 protein-coding 1606119 MFSD8 major facilitator superfamily domain containing 8 17564970,16303743,12477932,11589000,10191125 256471 NM_152778,AC099340,CH471056,AK074564,BC029503 NP_689991,EAX05193,EAX05194,EAX05195,BAC11062,AAH29503,Q8NHS3 Hs.480701 CLN7|MGC33302 protein-coding 1606209 MFSD9 major facilitator superfamily domain containing 9 16303743,12477932 84804 NM_032718,AC007239,AC007251,CH471127,CS051423,AK075376,AK290589,BC006242,BC009310,CR599593 NP_116107,AAX88847,AAY14910,EAX01787,CAI72206,BAC11577,BAF83278,AAH06242,AAH09310,Q8NBP5 Hs.590898 MGC11332 protein-coding 1351170 MGA MAX gene associated 1580863 14702039,12477932,10601024,9628581,12748276 23269 NM_001080541,AC016134,AC073657,AB011090,AK022696,AK023360,AK025751,AK055203,AK056470,AL050181,AL713737,BC007584,BC016982,BC038449,BX648098 NP_001074010,BAA25444,BAB14186,BAB14543,BAB15232,CAB43310,AAH38449,Q8IWI9,Q9H6M4,Q9H8R3,Q9H9N7,Q9UG69,Q9Y4E9 Hs.187569 GDB:9955438 FLJ12634|KIAA0518|MAD5|MXD5 protein-coding 1318097 MGAM maltase-glucoamylase (alpha-glucosidase) This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. 1580863 9446624,18036614,17485087,12853948,12547908,12477932,3143729,3121301 8972 NM_004668,AC073647,AC091684,AC091742,AF432186,AF432202,CH236950,CH471070,AF016833,BC120872 NP_004659,AAS07445,AAP21875,AAL83559,AAL83560,EAW83988,EAW83989,AAC39568,AAI20873,O43451,Q0VAX6,Q75ME7,Q86UM5,Q8TE24,Q8TE25 Hs.122785 GDB:9957983 MG|MGA protein-coding 1349279 MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. 1580863 1702225,17716624,16344560,16303743,15489334,15231748,15146197,14702039,12477932,12077311,9020882,7635144,1827260,1421759,16189514 4245 NM_002406,NM_001114617,NM_001114618,NM_001114619,NM_001114620,AC022413,CH471165,L77081,M61829,AB209239,AF289558,AK057194,AK075429,BC003575,AK290769,BG337235,CA426780,CN409895,CR456861,DB270226,DC383950,M55621,AK090523,AK092256,AK094130 NP_002397,NP_001108089,NP_001108090,NP_001108091,NP_001108092,EAW53739,EAW53740,EAW53741,EAW53742,EAW53743,EAW53744,EAW53745,AAA75523,BAD92476,AAL55742,BAF83458,AAH03575,CAG33142,BAC11616,AAA52563,P26572,Q59G70,Q6IBE3,Q8NBL8,Q8WZ34,ABM83429,ABM86642 Hs.519818 GDB:128225 GLCNAC-TI|GLCT1|GLYT1|GNT-1|GNT-I|MGAT protein-coding 731495 MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. 1581206,1599932,1599930,1580863 7635144,7797505,16303743,15489334,14702039,12621063,12477932,11805078,11228641,9579808,8808595,8892864,8218172,2829950,2649653,2542563,2355006,2283726,12560567,8093218,3264072,3099781,1736542,11530211,9109416,8673525,2541446,2187500 1581206,1599932,1599930 4247 NM_002408,AL139099,CH471078,U15128,AK056167,AK075051,AK075199,BC006390,BC018912,BI764270,BQ023756 NP_002399,EAW65758,AAA86956,AAH06390,Q10469,ABM83639,ABM87858 Hs.93338 GDB:137087 CDGS2|GLCNACTII|GNT-II|GNT2 protein-coding 1343088 MGAT3 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 8370666,17652175,16344560,15489334,15461802,14998999,12716887,12477932,12427758,11768033,11011143,10591208,8889548,8706690,8666260,14623284 4248 AL022312,CH471095,D85377,D85378,D85379,AK125361,BC075025,BC075026,NM_002409,BC113383,BC113718,BG683192,BM675328,CR456519,D13789,DA261678,DA370485,DA519457,NM_001098270 NP_001091740,CAI19177,EAW60332,BAA19868,AAH75025,AAH75026,AAI13384,AAI13719,CAG30405,BAA02937,Q09327,Q6LEM7,CAK54550,CAK54849,NP_002400 Hs.276808 GDB:207241 FLJ43371|GNT-III|GNT3|MGC141943|MGC142278 protein-coding 1313803 MGAT4A mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. 1580863 10024668,17953760,17488527,17006639,16434023,15688387,14702039,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500 11320 NM_012214,AB053222,AC064860,AC109826,CH471127,AB000616,AK092952,AK128366,AK291533,BC127107,BC127108,CR610346,CR611133 NP_036346,BAC55023,AAY14976,AAY24092,EAX01896,EAX01897,EAX01898,BAA86388,BAF84222,AAI27108,AAI27109,Q9UM21 Hs.177576 GDB:9957955 GNT-IV|GNT-IVA protein-coding 1602226 MGAT4B mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. 2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500,8093218,3264072,3099781,10372966,17488527,17006639,16434023,15146197,14702039,12975309,12477932,9373149,8125298 11282 NM_014275,NM_054013,AC008393,CH471165,AB000624,AK023137,AK225490,AK225492,AL162067,AY358984,BC009464,BC051835,BQ882570,BQ939735,CN369872 NP_055090,NP_463459,EAW53788,EAW53789,EAW53790,EAW53791,EAW53792,EAW53793,EAW53794,EAW53795,BAA83464,CAB82404,AAQ89343,AAH09464,AAH51835,Q9UQ53 Hs.567419 GDB:9957642 GNT-IV|GNT-IVB protein-coding 1604033 MGAT4C mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 16344560,14702039,12477932,10570912,5701727,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2542563,2541446,2187500 25834 NM_013244,AB024911,AC010196,AC016993,AC025157,AC079596,AC079865,AC087887,AC093122,AC128681,AC139663,AC139697,CH471054,AK127727,BC026068,BC035851,BC064141,BI667691,DA795621 NP_037376,BAA83087,EAW97402,AAH26068,AAH64141,Q9UBM8 Hs.662231 GNTIVH|HGNT-IV-H protein-coding 737363 MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase This gene encodes mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, a glycosyltransferase involved in the synthesis of protein-bound and lipid-bound oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the encoded protein's activity may correlate with the progression of invasive malignancies. 1580863 8292036,17971775,17878270,17488527,17451637,16924681,16638859,16467879,15809094,15313475,15044007,15014031,11872751,11864986,10700233,10580127,10395745,9235963 4249 NM_002410,AC013276,AC013718,AC016906,AF004882,CH471058,AF113921,D17716 NP_002401,AAY14747,AAX93248,AAY14791,AAB81939,EAX11657,EAX11658,AAD22449,BAA04570,Q09328,Q53SM9,Q53SV8,Q53SZ9,Q71VM6,AAI56314,AAI57049 Hs.651869 GDB:304593 GNT-V n-acetylglucosaminyltransferase v protein-coding 1313067 MGAT5B mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 16857188,16606368,16413118,14623122,14617637,14561752,12941944,12477932,8093218,3264072,3099781,2829950,1736542,11530211,9109416,8673525,2649653,2541446,2187500 146664 AB114297,AB109185,AB235153,AK123189,AW191036,BC036948,BC041577,BC062354,BC063862,NM_144677,NM_198955,AC016168,CH471099 BAC84969,EAW89460,BAD02406,BAE44474,AAH62354,AAH63862,Q3V5L5,AAI56824,NP_653278,NP_945193,EAW89457,EAW89458,EAW89459 Hs.144531 FLJ25132|GnT-IX|GnT-VB|KIAA2008 protein-coding 1345530 MGC1 megalocornea 1 (X-linked) 4251 GDB:120179 1606877 MGC12965 similar to Cytochrome c, somatic 12477932 374408 Q8TB74 NM_198519,AP001372,CH471076,BC019340,BX647206 NP_940921,EAW74941,AAH19340,Q8TB74 Hs.662812 protein-coding 1606484 MGC12966 hypothetical protein LOC84792 15342556,14702039,12853948,12477932 84792 NM_001037163,AC009412,CH236963,CH878731,AF533707,AK093156,BC006110,BC142977,BP354450 NP_001032240,AAS07509,EAW55045,AAQ09020,BAC04076,AAH06110,AAI42978,Q7Z4H9,Q8NA52,Q9BRR7,AAI40098 Hs.696146 protein-coding 1601946 MGC13057 hypothetical protein MGC13057 16344560,16303743,16189514,12477932 84281 NM_001042520,NM_001042519,NM_032321,AC010679,CH471058,NM_001042521,AK075168,BC005083,BU567236,BX648070,DA247977,DA389238 NP_001035986,NP_001035985,NP_001035984,NP_115697,AAX93233,EAX10878,EAX10879,BAC11447,AAH05083,Q53TC7,Q8NBX4,Q9BSF0 Hs.389311 protein-coding 1602714 MGC13379 HSPC244 12477932,11042152 51259 NM_016499,AP003108,CH471076,AF151078,AI434503,BC011010,BG759319,CR457166,CR622592 NP_057583,EAW73944,AAF36164,AAH11010,CAG33447,Q9P0N5 Hs.26745 protein-coding 1603001 MGC16121 hypothetical protein MGC16121 12477932 84848 XM_001128419,XM_001715872,XM_001715787,AC004383,CH471107,BC007360 XP_001128419,XP_001715924,XP_001715839,EAX11759,AAH07360,Q96IN8 Hs.416379 protein-coding 1606987 MGC16169 hypothetical protein MGC16169 12471243,15815621,15489334,14702039,12477932,9847074 93627 BC068496,BX647851,CR608976,NM_033115,AC093680,AC107381,AC109361,AC114734,AC125469,AP001820,CH471057,AF161420,AK074305,AK098157,BC009208,BC020853 AAH20853,AAH68496,CAI46102,Q5HYF5,Q8TEA7,ABM84205,ABM87609,NP_149106,AAY40979,AAY41041,EAX06198,EAX06199,EAX06200,EAX06201,EAX06202,AAF28980,BAB85045,BAC05244,AAH09208 Hs.292986 HSPC302 protein-coding 1605600 MGC16385 hypothetical protein MGC16385 15231747,14702039,12477932 92806 NM_145039,AC092143,AK056131,AK074351,AW136311,BC005105,BC009263,BC040698,CD518450 NP_659476,BAB71100,AAH05105,Q96N14,Q9BSD4 Hs.513832 FLJ23771|FLJ31569|MGC13198 protein-coding 1602661 MGC16703 tubulin, alpha pseudogene 15146197,14702039,12477932 113691 NR_003608,AC002472,CH471176,AK057257,BC009991,BI668929,CN368433,CR622747 EAX02915,EAX02916,AAH09991 Hs.517430,Hs.585006 pseudo 2290201 MGC21881 hypothetical locus MGC21881 16189514,14702039,12477932 389741 XR_041523,XR_041522,NR_015363,BX664615,AK092305,AK095690,AK127789,BC000869,BC015151,BC019880,BC027338,BC040170,BC081570 BAC87137,AAH00869,AAH19880,AAH27338,Q6ZS19,Q8WUP8,Q96BV1 Hs.658041 miscrna 1605197 MGC23985 similar to AVLV472 12975309,12477932 389336 NM_206966,AC011352,AK289403,AY358656,BC021680 NP_996849,BAF82092,AAQ89019,AAH21680,Q6UWT4 Hs.660038 protein-coding 1605273 MGC24039 hypothetical protein MGC24039 14702039,12477932,8889548 160518 AC022080,AC068792,CH471116,AB209341,AF086301,AI762929,AI858532,AK021465,AK095598,AK123642,AK125323,AL137364,NM_144973,AL157581,BC020855,BC068580,BF513808,BM676905,BX537924,CR749639 NP_659410,EAW88552,EAW88553,EAW88554,EAW88555,EAW88556,EAW88557,BAD92578,BAC04583,BAC86129,AAH20855,AAH68580,CAD97905,CAH18433,Q6ZUT9 Hs.118166 DKFZp686P1174|FLJ41648|FLJ43333 protein-coding 1601943 MGC2408 hypothetical protein MGC2408 12477932 84291 BC005835,BC012449,BC069005,CR595932,NM_032331,AC061705,CH471052,CR620009 AAH05835,AAH12449,AAH69005,NP_115707,EAW78277,Q6NTG7,Q9BRZ8 Hs.146161 protein-coding 1602428 MGC24975 hypothetical protein MGC24975 12477932 163154 NM_153359,AC011499,CH471139,BC008985,BC023278 NP_699190,EAW69147,AAH08985,AAH23278,Q8IZ63 Hs.631838 protein-coding 1603879 MGC26647 hypothetical protein MGC26647 12690205,12477932 219557 NM_152706,AC002127,CH236949,CH471091,BC028365 NP_689919,EAL24169,EAW76902,AAH28365,Q8TBZ9 Hs.112877 protein-coding 1604603 MGC2752 hypothetical protein MGC2752 12477932 65996 AK098293,BC000766,BC001952,BC025349,BC043401,BC067232,BC098570,BC119702,BC119703,CR590190,CR620356,NM_023939,AC016629,CH471135,AK000827 AAH01952,AAH98570,AAI19703,Q0VDF0,NP_076428,EAW72619,Q4KMH0,Q9BPX8 Hs.541177 MGC111383|MGC149628 protein-coding 1605681 MGC29506 hypothetical protein MGC29506 14702039,12792799,12477932,11350957,11042152,16189514 51237 AK057549,AK292706,BC009931,BC021275,BU601458,NM_016459,AC135457,AA837360,AF151024,AF338109 BAF85395,AAH09931,AAH21275,Q8WU39,AAK84085,ABM83553,ABW03504,NP_057543,AAF36110 Hs.409563 FLJ32987|PACAP protein-coding 1604271 MGC3207 hypothetical protein MGC3207 16189514,16381901,15489336,15231748,12975309,12477932,11256614,11230166,11076863 84245 NM_001031727,NM_032285,AC008686,CH471106,AF318324,AL834276,AY358176,BC001703,BM147362 NP_001026897,NP_115661,EAW84369,EAW84370,EAW84371,AAL55831,CAD38951,AAQ88543,AAH01703,Q8WYX2,Q9BV20,CAL37494,CAL38102 Hs.439370 protein-coding 1602048 MGC33407 hypothetical protein MGC33407 12477932 284382 NM_178525,AC093230,AK292258,AY248901,BC024028,BC045752 NP_848620,BAF84947,AAP20052,AAH24028,AAH45752,Q8TC94 Hs.209206 HSD21 protein-coding 1606401 MGC33556 hypothetical LOC339541 12477932 339541 Q6PIY5 NM_001004307,AL122004,CH471059,BC026115 NP_001004307,EAX07026,EAX07027,AAH26115,Q6PIY5 Hs.173679 protein-coding 1605261 MGC33846 hypothetical protein MGC33846 14702039,12477932 220382 NM_175885,AP002796,CH471076,AK095054,BC039262,BC150621,BE857184,BE858471 NP_787081,EAW75073,BAC04483,AAI50622,A6NEQ2,Q8N9C5 Hs.448218 protein-coding 1606417 MGC33894 transcript expressed during hematopoiesis 2 12477932 256302 NM_152914,AC087294,AL359586,CH471210,AK126856,BC029527,BC044645,CR749731 NP_690878,EAX02600,AAH29527,Q8N6N6 Hs.654713 DKFZp761I1115|DKFZp762H185 protein-coding 1605549 MGC34761 hypothetical protein MGC34761 12477932 283971 AK289884,AL833339,BC039068,BC062573,BC141808,NM_173619,AC009060,AF448856 AAP41924,BAF82573,AAH39068,AAI41809,Q7Z7I8,NP_775890 Hs.556045 protein-coding 1602623 MGC34774 ribosomal protein L13A pseudogene 12477932,15479637 399670 NR_003680,AC006043,CH236949,CH471091,BC027852 EAW77026,AAH27852,Q8N6Z1 Hs.568045 pseudo 1601709 MGC35361 hypothetical protein MGC35361 14702039,12477932 222234 Q8N0U4 NM_147194,AC105052,CH471070,AK054745,BC029175,CR605086 NP_671727,EAW83297,AAH29175,Q8N0U4,ABM84285,ABM87677 Hs.202543 protein-coding 1601930 MGC35440 hypothetical protein MGC35440 12477932 147990 NM_153220,AC007773,AF533711,BC029162 NP_694952,AAQ09024,AAH29162,Q7Z4H5,Q8N6Q4 Hs.194392 protein-coding 1605492 MGC39606 hypothetical protein MGC39606 12477932 399668 XM_001127817,XM_001129116,XM_001721183,AL450472,BC030620,BC051704 XP_001127817,XP_001129116,XP_001721235,AAH30620,AAH51704,Q86V52 Hs.374414 protein-coding 1605543 MGC39900 thymosin beta15b 17567946,14702039,12477932 286527 BC035660,BC054476,BC093093,BQ011701,XR_042098,XR_042096,XR_042097,NM_194324,AL034485,CH471120,AK090973,BC019900,BC029803 AAH29803,Q05C30,Q8N6W4,NP_919305,EAX02764 Hs.496530,Hs.675540 Tbeta15b protein-coding 1601851 MGC4172 short-chain dehydrogenase/reductase 15489334,14702039,12975309,12477932 79154 NM_024308,AC003042,CH471199,AB209247,AK026196,AK096551,AY358712,BC002731,BG037061,CR457356,CR625650 NP_077284,EAW57568,EAW57569,EAW57570,BAD92484,BAB15390,AAQ89074,AAH02731,CAG33637,Q59G62,Q6UWP2 Hs.462859 ARPG836|FLJ39232 protein-coding 1604515 MGC42105 hypothetical protein MGC42105 15733851,15489334,14702039,12477932 167359 NM_153361,AC106800,AC114947,CH471119,AK122985,BC036422 NP_699192,EAW56050,EAW56051,EAW56052,EAW56053,AAH36422,Q8IY84,ABM82568,ABM85757 Hs.25845 protein-coding 1606857 MGC44328 hypothetical gene supported by BC033985 12477932 440757 NM_001004344,AL049646,CH471133,BC033985 NP_001004344,EAX10248,AAH33985,Q8NEA0 Hs.120399 protein-coding 1602067 MGC45438 hypothetical protein MGC45438 16303743,15197164,12975309,12477932 146556 NM_152459,NM_001098514,AC026458,CH471112,CQ783348,AK075242,AY358483,BC033681,CF272639 NP_689672,NP_001091984,EAW85242,EAW85243,EAW85244,CAF86554,BAC11494,AAQ88847,AAH33681,Q6UX73 Hs.11782 protein-coding 1603192 MGC4655 hypothetical protein MGC4655 12975309,12477932 84752 NM_033309,AC074143,CH471092,AF171091,AY358485,BC012191,BC022849,BU617330,CF994177,CR613875 NP_171608,EAW83079,AAQ13602,AAQ88849,AAH12191,Q6UX72,Q7Z4F9,Q96EK0 Hs.706905 protein-coding 1602258 MGC48628 similar to KIAA1680 protein 14702039,12477932 401145 Q4W5M0,Q86V57,Q9C0I3 NM_207491,AC019188,AC093729,AC093781,AC097524,AC098593,AC108038,CH471057,AK097436,BC021681,BC051694 Q86V57,Q9C0I3,NP_997374,AAY41009,EAX06039,EAX06040,AAH51694,Q4W5M0 Hs.654735 protein-coding 1601786 MGC50273 MGC50273 protein 12477932 408029 NM_214461,AC103564,BC043584 NP_999626,AAY24065,AAH43584 Hs.145567 protein-coding 1602640 MGC50559 hypothetical protein MGC50559 12477932 254013 NM_173802,AC023157,CH471116,AK290248,AL832339,BC039107,BC039417,BC039535 NP_776163,EAW88545,EAW88546,EAW88547,EAW88548,BAF82937,AAH39107,AAH39535,Q8IXQ9 Hs.585084 protein-coding 1602621 MGC50722 hypothetical MGC50722 12477932 399693 NM_203348,AK125773,BC031926,BC042107 NP_976223,BAC86282,AAH31926,AAH42107,Q6ZUE3,Q8IVT4,Q8N5P7 Hs.530383 protein-coding 1601694 MGC52498 hypothetical protein MGC52498 12975309,12477932 348378 NM_001042693,AC099784,AL356976,CH471059,AK128236,AY358621,BC041608 NP_001036158,EAX06773,EAX06774,EAX06775,BAC87346,AAQ88984,AAH41608,Q6UWV7,Q8IVY8 Hs.424589 PRO7171|WWLS2783 protein-coding 1605479 MGC57359 similar to Williams Beuren syndrome chromosome region 19 12690205,12477932 441272 NM_001004351,AC005071,CH236956,BC056606,BC100972 NP_001004351,EAL23843,AAH56606,AAI00973,Q495Y9,Q6PHC4 Hs.654752 MGC119294 protein-coding 1603334 MGC59937 Similar to RIKEN cDNA 2310002J15 gene 12477932 375791 A8MQ03 NM_199001,BX322591,BC052297 NP_945352,AAH52297,A8MQ03 Hs.512469 protein-coding 1606363 MGC70857 similar to RIKEN cDNA C030006K11 gene 12477932 414919 NM_001001795,AC084125,CH471162,BC064373,BC064829,BC073936,CR614853,CR617155,CR620177 NP_001001795,EAW82063,EAW82064,AAH64373,AAH64829,AAH73936,Q6GMR2,Q6P1X6,Q6P2Q7 Hs.105685 protein-coding 1606408 MGC70863 similar to RPL23AP7 protein 12477932 284942 NM_203477,NM_203302,AC002055,AC002056,AK293095,AL365511,BC010172,BC019348,BC065556,BC105600,BQ668440 NP_982307,NP_976047,BAF85784,CAB97207,AAH19348,AAH65556,AAI05601,O95014,Q0VGL6,Q6P0M1,Q8WUU7,Q9NPS7 Hs.406135 protein-coding 1602946 MGC70870 C-terminal binding protein 2 pseudogene 16344560,14702039,12477932 403340 NR_003682,AC011841,AK092162,BC063803,BC106037,DA695335 BAC03819,AAH63803,Q6P3W3,Q8NAS8 Hs.572501 pseudo 1606633 MGC71805 protein for MGC71805 12477932 403113 NM_203381,AC008758,AL554508,CB988846 Q6PEW9,NP_976315 Hs.546637,Hs.674364 protein-coding 1603856 MGC87631 similar to hypothetical protein FLJ36492 12477932 339184 NM_001004306,AC090774,BC068597 NP_001004306,AAH68597,Q6NUI1 Hs.674830 protein-coding 1348393 MGCR meningioma chromosome region 4252 GDB:120180 732641 MGEA5 meningioma expressed antigen 5 (hyaluronidase) The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM] 9811929,17546623,16517082,16505006,16356930,15489334,15485860,15345747,15302935,14702039,12477932,12359146,12168954,11788610,11341771,11148210,9734811 10724 NM_012215,AC010789,CH471066,AB014579,AF036144,AF307332,AK002091,AK027008,BC001343,BC014201,BC032591,BC039583,BC047877 NP_036347,EAW49741,EAW49742,EAW49743,EAW49744,BAA31654,AAD05385,AAG21428,AAH01343,AAH39583,AAH47877,O60502 Hs.500842 GDB:9958216 FLJ11229|FLJ23355|KIAA0679|MEA5|NCOAT|OGA protein-coding 734078 MGLL monoglyceride lipase Monoglyceride lipase (MGLL; EC 3.1.1.23) functions together with hormone-sensitive lipase (LIPE; MIM 151750) to hydrolyze intracellular triglyceride stores in adipocytes and other cells to fatty acids and glycerol. MGLL may also complement lipoprotein lipase (LPL; MIM 238600) in completing hydrolysis of monoglycerides resulting from degradation of lipoprotein triglycerides (Karlsson et al., 2001 [PubMed 11470505]).[supplied by OMIM] 1580863 9495531,17621164,16806233,15489334,14702039,12477932,11470505,9110174,8889548,8619474 11343 NM_001003794,NM_007283,AC023593,AC117480,CH471052,AF131821,AI125141,AI379999,AJ270950,AK025983,AK026389,AK091314,AK093841,AK125135,AL365376,AL833254,AY172950,BC000551,BC006230,BC047298,BC073823,BE302457,BG035493,BG249567,BM051374,BM669411,BX640777,CR456835,CR622559,U67963 NP_001003794,NP_009214,EAW79329,EAW79330,EAW79331,CAC43316,BAC86060,AAO45694,AAH00551,AAH06230,CAE45873,CAG33116,AAB39616,Q2VYF8,Q6IBG9,Q6ZV06,Q99685,ABM82881,ABM86067 Hs.277035 GDB:9958022 HU-K5|MGL protein-coding 735904 MGMT O-6-methylguanine-DNA methyltransferase 1580863 17621591,17597106,17652530,17569599,17547775,17523078,17500046,17493032,17487400,17482892,17479411,17451198,17352030,17342321,17285603,17276933,17234722,17219056,17192931,17164358,17158087,17138560,17040931,16996781,16844323,16791592,16788379,16777993,16733832,16633920,16609022,16533425,16517062,16436636,16385589,16373199,16369171,16285744,16284370,16226712,16203797,2188979,2405387,8434121,18445844,18386788,18353991,18270339,18268114,18240147,18199718,18156172,18091318,18089777,18086781,18028895,18006925,18004504,17965865,17957803,17938272,17898525,17721049,17712558,17700363,17691113,17666372,16195237,16174854,16094607,16038584,16030116,16030112,16030105,16014702,16007001,16000301,15964013,15943786,15915369,15885889,15831531,15809756,15809347,15802298,15800999,15799820,15785933,15735757,15657354,15489334,15455376,15455350,15332332,15327835,15309527,15302935,15254699,15225156,15221026,15140540,15041700,14669534,14647440,14614014,14522053,12963053,12896905,12883749,12849917,12727789,12720298,12624503,12592365,12549918,12503076,12483540,12477932,12469220,12402349,12185595,12170182,12119040,12087469,11980845,11956078,11911967,11872960,11802813,11719438,11564893,11548124,11062157,10747039,10667577,10606635,10585585,9494526,9363996,8612308,8573590,8472340,8324751,8202360,7954470,7893370,7766621,7756667,7678140,7614699,6690082,2947677,2394694,2359121,1985934,1635460,1547538,1423836,1387001,1384961,15765097 4255 AL157832,AL353725,AL355531,CH471066,S52068,BC000824,BI520029,BT006714,NM_002412,CR599817,CR602497,M29971,M31767,M60761,X54228 NP_002403,CAH70060,CAH72190,EAW49166,EAW49167,AAD13867,AAH00824,AAP35360,AAA59596,AAA52317,AAA59594,CAA38137,P16455,Q5VY78,Q6LDD1,ABM81649,ABM84827 Hs.501522 GDB:125264 0-6-methylguanine-dna methyltransferase protein-coding 737291 MGP matrix Gla protein 1582503,1582502,1600783,1582501,1582504,1582511,1580863 9916809,18369157,18222176,17890861,17848178,17724449,17670744,17643059,17509359,17014561,16973975,16735944,16392639,16210837,15982861,15864013,15744522,15489334,15280384,15045141,14963895,14587031,12721790,12477932,12207096,11741887,11684076,11073842,10737800,9610006,8061611,3387234,2394711,2216462,1939157,15607035 1582503,1582502,1600783,1582501,1582504,1582511 4256 NM_000900,AC007655,CH471094,DQ004248,M55270,AW997681,AY542304,BC005272,BC070314,BC093078,BT006733,CB069816,CR450358,CR623037,M58549,N85639,X07362,X53331 NP_000891,EAW96333,EAW96334,AAY16978,AAB53765,AAT08173,AAH05272,AAH70314,AAH93078,AAP35379,CAG29354,AAB53766,CAA30287,CAA37418,P08493,ABM83421,ABM86633 Hs.365706 GDB:126860 GIG36|MGLAP|NTI protein-coding 1353673 MGRN1 mahogunin, ring finger 1 Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM] 1580863,1641947 17229889,15489334,12477932,12438443,9628581 1641947 23295 NM_015246,AC023830,CH471112,AB011116,BC014199,BC050389,CR606461,EF471397,EF471398 NP_056061,EAW85279,EAW85280,EAW85281,EAW85282,BAA25470,AAH50389,ABO69623,ABO69624,O60291 Hs.526494 KIAA0544|RNF156 protein-coding 737343 MGST1 microsomal glutathione S-transferase 1 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Four transcript variants of this gene encode one protein isoform. 1580863,1358122 3372534,17714764,17483957,16384981,15489334,15338373,14726533,12818425,12477932,11587073,11034337,10777602,10673221,10524215,10095775,8812420,7663172,7566098,2307478,1544849,12359356 1358122 4257 BT006982,CR407629,CR609242,CR618561,H49331,J03746,R86750,NM_145791,NM_145764,AC007528,AY368173,CH471094,U46498,U46499,U71213,AA314967,AK291148,BC005923,BC056863,NM_145792,NM_020300 AAP35628,CAG28557,AAA35934,P10620,Q6LET6,NP_064696,NP_665734,NP_665707,AAQ55111,EAW96362,EAW96363,EAW96364,EAW96365,EAW96366,EAW96367,EAW96368,EAW96369,AAC50711,AAB17184,BAF83837,AAH05923,NP_665735 Hs.389700 GDB:120021 GST12|MGC14525|MGST|MGST-I protein-coding 1322562 MGST2 microsomal glutathione S-transferase 2 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. 1580863,1358122 8703034,16773312,16498398,15489334,12477932,11322876,10673221,9302651,9278457,8889549 1358122 4258 NM_002413,AC108053,AC112236,AY341028,CH471056,AA122237,AK130948,BC025416,CR407640,U77604 NP_002404,AAP88934,EAX05111,EAX05112,EAX05113,AAH25416,CAG28568,AAC51768,Q99735,ABM84310,ABM87703 Hs.81874 GDB:9081895 FLJ27438|GST2|MGC14097|MGST-II protein-coding 1314953 MGST3 microsomal glutathione S-transferase 3 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides. 1580863 9278457,17719568,16710414,15489334,12898215,12477932,10673221,9373149,8125298 4259 NM_004528,AL356441,AL451074,AY388493,CH471067,AF026977,AK223012,BC000505,BC003034,BC005964,BI666647,CR450359,CR607567,CR621489,DQ185045 NP_004519,CAH74057,CAH74058,CAH74062,AAQ81301,EAW90752,EAW90753,EAW90754,EAW90755,EAW90756,EAW90757,AAB82609,BAD96732,AAH00505,AAH03034,AAH05964,CAG29355,ABD14425,O14880,Q2F833,Q53GB9,Q5VV87,Q5VV89 Hs.191734 GDB:9081897 GST-III protein-coding 1344260 MHAC microhydranencephaly 53341 GDB:10796373 1350508 MHP2 migraine, hemiplegic 2 9403481 337931 GDB:342111 1349036 MHS2 malignant hyperthermia susceptibility 2 1427885 4264 GDB:132580 1352365 MHS4 malignant hyperthermia susceptibility 4 7887423 4265 GDB:574245 1350823 MHS6 malignant hyperthermia susceptibility 6 9175745 4266 GDB:6297815 732144 MIA melanoma inhibitory activity 737744,1580863 7923218,18181974,17661202,17599744,17348447,16331256,15760338,15547763,15489334,15386421,15340161,15208686,15201995,15057037,12665595,12477932,12230496,12014625,11991352,11331761,11157741,8661134,8550608 737744 8190 BT007044,BX280685,CR541648,X75450,NM_006533,AC020945,AC098779,CH471126,X84707,BC005910,BQ681978 AAP35693,CAG46449,CAA53203,Q16674,Q6FHV3,NP_006524,EAW56997,EAW56998,EAW56999,CAA59195,AAH05910 Hs.646364 GDB:9954596 CD-RAP cartilage derived retinoic acid sensitive protein protein-coding 1319985 MIA2 melanoma inhibitory activity 2 17881540,16381901,15489336,14702039,12586826,12477932,11230166,11076863 117153 NM_054024,AL132639,CH471078,AF390175,AK026057,BC035981,BC130537,BC130563,BX495701,BX648228 NP_473365,EAW65818,EAW65819,AAL26990,BAB15339,AAH35981,AAI30538,AAI30564,Q0JSQ5,Q0JTN2,Q6PIE7,Q96PC5,CAL38130,CAL38459 Hs.287694 FLJ22404 protein-coding 1605216 MIA3 melanoma inhibitory activity family, member 3 17726152,17044017,17786351,16344560,15183315,14702039,12975309,12477932,9039502 375056 NM_198551,CH471100,CQ834356,AK025122,AK025506,AK026489,AK096526,AK290335,AY359091,BC031805,BC047116,BP423646,CK724924,CR612005,CR613982,D87742,DA040423,DQ166034,L34688,AL592148 NP_940953,CAI40469,CAI40470,CAI40471,CAI40473,CAI40474,EAW93267,CAH05393,BAC04810,BAF83024,AAQ89449,AAH47116,BAA13448,AAZ95512,AAB00324,Q3S4X3,Q5JRA6 Hs.118474 ARNT|FLJ21469|FLJ39207|KIAA0268|RP11-378J18.4|TANGO|UNQ6077 protein-coding 1606629 MIAT myocardial infarction associated transcript (non-protein coding) 17066261,14702039 440823 NR_003491,AB263414,AB263415,AB263416,AB263417,AK095686,AK098753,AK098833,AK127256,CR596668,CR620293 Hs.517502 C22orf35|FLJ25887|FLJ25967|FLJ38367|FLJ45323 miscrna 1316242 MIB1 mindbomb homolog 1 (Drosophila) 1580863,1334454 18202755,17464313,17390041,17324930,17003037,16857196,15489334,15048887,14702039,14642363,12530964,12477932,12351649,11812785,10718198 1334454 57534 NM_020774,AC091038,AC103987,CH471088,AB037744,AF086463,AK027338,AK075157,AK091266,AL713705,AY147849,AY149908,BC022403,BC110581,BC110582,CR617658,CR749635 NP_065825,EAX01132,BAA92561,BAC11439,CAD28502,AAN18023,AAN75493,AAH22403,AAI10582,AAI10583,CAH18429,Q86YT6 Hs.140903,Hs.658808 DIP-1|DKFZp686I0769|DKFZp761M1710|FLJ90676|MGC129659|MGC129660|MIB|ZZANK2|ZZZ6 protein-coding 1349487 MIB2 mindbomb homolog 2 (Drosophila) 1331357,737633,1580863 12761501,17081983,16715130,16381901,15920166,15869411,15824097,15489336,15489334,14702039,14507647,12477932,11076863 1331357,737633 142678 AL691432,CH471183,AB064367,AB074480,AB076691,AB076692,AB076693,AB097000,AK000655,AK091610,AK095914,AK096295,AK097106,AK098785,NM_080875,AK122751,AK122863,AK128167,AK128553,AL834527,BC016490,BC035078,BC037542 NP_543151,CAM12830,CAM12831,CAM12832,CAM12833,EAW56174,EAW56175,EAW56176,EAW56177,EAW56178,EAW56179,BAB82979,BAB92950,BAC00992,BAC00993,BAC00994,BAC77353,BAC03707,BAC04646,BAC04752,BAC04952,BAC05413,CAD39183,AAH16490,AAH37542,Q0JSM5,Q0JVE6,Q8N786,Q96AX9,CAL37514,CAL38489 Hs.135805,Hs.593430 FLJ20648|FLJ39787|ZZANK1|ZZZ5 zinc finger, zz type with ankyrin repeat domain 1 protein-coding 1345216 MIC12 antigen identified by monoclonal antibody 30.2A8 3979119 4273 GDB:119389 1351247 MIC7 antigen identified by monoclonal antibody 28.3.7 3871395 4270 GDB:119392 1345713 MICA MHC class I polypeptide-related sequence A MICA encodes the higly polymorphic MHC (HLA) class I chain-related gene A. The protein product is expressed on the cell surface, although unlike canonical class I molecules does not seem to associate with beta-2-microglobulin. It is thought that MICA functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. 1580863 16923796,16893385,16883538,16784494,16776673,16767211,16720212,16702430,16698437,16698430,16679067,16671949,16634869,16585609,16568261,16547745,16537577,16417220,16386647,16379028,16216678,16184547,16178876,16168521,16151576,16133985,16116311,16101831,16101830,16094621,16091471,16061555,16002667,15952123,15728525,15699512,15699510,15699508,15652646,15640005,15603871,15522921,15381244,15304010,15304009,15272769,15192843,15150599,15140030,15089901,15089899,15086345,15077289,15051759,15029237,15018633,14752253,14730600,14702039,14679081,14675133,14662896,14630402,14588097,14551603,14530335,14517700,12963865,12941547,12918695,12918694,12915440,12902493,12894536,12878361,12854159,12714493,12691706,12653732,12622774,12590984,12569559,12559632,12542746,12538683,12507824,12492815,12477932,12466900,12414645,12392511,12392510,12384702,12373294,12370336,12242594,12190814,12170475,12170466,12115588,12074713,7927538,8976183,18390988,18365394,18365383,18332098,18312344,18282752,18202175,18158593,18057383,18056367,18023027,18001301,17948965,17911424,17625602,17586836,17570210,17559497,17545046,17523949,17511763,17495932,17389022,17389016,17388919,17350686,17221346,17202358,17130560,17102945,17003176,17003171,16951502,12021141,12068141,12021140,12022360,12021138,12021133,11975986,11918717,11916168,11881819,11862403,11862400,11862390,11841487,11839711,11797336,11796403,11737059,11696220,11696218,11600224,11556982,11508592,11491503,11465541,11409121,11407684,11390038,11390037,11380951,11323699,11239445,11194237,11169253,11169252,11169245,11118029,11110982,11024213,10894171,10777103,10746789,10703615,10426993,10380703,10369920,10369917,9770516,9497295,9486173,9373149,9331954,9177776,8995188,8876061,8824804,8781120,8613147,8125298,8022771,8022769,2715640,10380704 4276 AB015600,AB088108,AB202108,AF011834,AF011840,AF011843,AF011849,AF011852,AF011855,AF011858,AF011861,AF011864,AF011867,AF011870,AF011873,AF011879,AF011882,AF011885,AF011888,AF079415,AF079418,AF079421,AF079424,AF079427,AF085014,AF085018,AF085022,NM_000247,AF085026,AF085030,AF085034,AF085038,AF085042,AF085046,AF085050,AF085054,AF085058,AF085062,AF093113,AF093114,AF093115,AF093116,AF097403,AF336064,AF336066,AF336067,AF336070,AF336072,AF336074,AF336076,AF336078,AF336080,AF336082,AF336084,AF336086,AF411925,AJ249394,AJ250499,AJ250500,AJ250501,AJ250502,AJ250503,AJ250504,AJ250505,AJ250506,AJ250507,AJ250802,AJ250803,AF097404,AF097405,AF097406,AF106634,AF106637,AF106640,AF106643,AF106646,AF106649,AF106652,AF106655,AF264737,AF264740,AF264743,AF264747,AF286734,AF302792,AF303446,AF305055,AF305056,AJ250804,AJ250805,AJ250990,AJ250991,AJ271789,AJ295250,AJ295294,AJ563426,AJ580805,AJ580806,AL645933,AL669854,AL845443,AY029763,AY095537,AY603357,AY748461,BA000025,BX119958,CH471081,CR847852,D83956,L29411,M24036,U56940,U56941,U56942,U56943,U56944,U56945,U56946,U56947,U56948,U56949,U56950,U56951,U56952,U56953,U56954,U56955,U69622,U69623,U69624,U69625,U69626,U69627,U69628,U69629,U69630,U69631,U69964,U69965,U69966,U69967,U69968,U69969,U69970,U69971,Y18116,Y18117,Y18118,AK094237,AK225393,AY204547,AY750850,BC016929,BC091497,CR609923,L14848,Y16806,Y16807,Y16808,Y16809,Y16810,Y16811,Y18110,Y18111,Y18112,Y18113,Y18114,Y18115,U69972,U69973,U69974,U69975,U69976,U69977,X92841,Y16801,Y16802,Y16803,Y16804,Y16805 NP_000238,BAA29034,BAC54940,BAE78633,AAD01474,AAD01476,AAD01477,AAD01479,AAD01480,AAD01492,AAD01481,AAD01482,AAD01483,AAD01484,AAD01485,AAD01486,AAD01488,AAD01489,AAD01490,AAD01491,AAC28941,AAC28942,AAC28943,AAC28944,AAC28945,AAD52060,AAD52061,AAD52062,AAD52063,AAD52064,AAD52065,AAD52066,AAD52067,AAD52068,AAD52069,AAD52070,AAD52071,AAD52072,AAD01475,AAD01478,AAD01473,AAD01487,AAD27006,AAG22087,AAK19622,AAK17997,AAK25770,AAK25771,AAK18281,AAK19623,AAK20897,AAK20898,AAK27364,AAK20899,AAK26323,AAK26324,AAL02224,CAB71317,CAC14280,CAC14281,CAC14282,CAC14283,CAC14284,CAC14285,CAC14286,CAC14287,CAC14288,CAC15380,AAD27007,AAD27008,AAD27009,AAD19598,AAD19599,AAD19600,AAD19601,AAD19602,AAD19603,AAD19604,AAD19605,AAK58536,AAL13171,AAK58537,AAK58538,AAG13966,AAG22082,AAG22083,AAG22086,CAC15381,CAC15382,CAC15383,CAC16142,CAC16143,CAC27561,CAC88121,CAC18876,CAD91415,CAE45581,CAE45582,CAI41759,CAI41760,CAI41761,CAI17643,CAI17647,CAI17648,CAI17649,CAI41907,CAI41908,CAI41909,AAK51140,AAM34484,AAV39504,AAU95382,BAB63308,BAB63309,CAI18744,CAI18745,EAX03392,EAX03393,EAX03394,EAX03395,EAX03396,EAX03397,CAQ11015,CAQ11016,CAQ11018,BAA22205,AAA64611,AAA52662,AAB41060,AAB41061,AAB41062,AAB41063,AAB41064,AAB41065,AAB41066,AAB41067,AAB41068,AAB41069,AAB41070,AAB41071,AAB41072,AAB41073,AAB41074,AAB41075,AAB51778,AAB51779,AAB51780,AAB51781,AAB51782,AAB51783,AAB51784,AAB51785,AAB51786,AAB51787,AAB51788,AAB51789,AAB51790,AAB51791,AAB51792,AAB51793,AAB51794,CAA77034,CAA77035,CAA77036,CAA77037,AAO45822,AAU95072,AAH16929,AAH91497,AAA21718,P30460,P78551,P79527,CAA76398,CAA76399,CAA76400,CAA76401,CAA76402,CAA76403,CAA77029,CAA77030,CAA77031,CAA77032,CAA77033,P79528,P79529,P79530,P79531,P79532,P79533,P79534,P79535,P79536,P79537,P79538,P79539,P79540,Q0EFB3,Q29927,Q29983,Q2L6G1,Q5JP34,Q5JP35,Q5JQJ3,Q5SS57,Q5SS58,Q5SS59,Q5XM20,Q7JFP0,Q860W3,Q861I3,Q95IC0,Q95IH9,Q96QC4,Q99691,Q99693,Q99694,Q99695,Q99696,Q9GJ26,Q9GJ27,Q9GJ30,Q9GJ32,Q9GJ38,Q9GJF5,Q9HB16,Q9UDZ8,Q9UDZ9,Q9UE00,Q9UE01,Q9UE02,Q9UE03,Q9UMF1,AAB51795,AAB51796,AAB51797,AAB51798,AAB51799,AAB51800,AAB51801,CAA63427,CAA76393,CAA76394,CAA76395,CAA76396,CAA76397 Hs.77961,Hs.549053 GDB:341911 MGC111087|PERB11.1 protein-coding 1604315 MICAL1 microtubule associated monoxygenase, calponin and LIM domain containing 1 11827972,17662518,17081983,15796781,15694364,15489334,14702039,14574404,12788069,12477932,12110185,11214971,10808124,9373149,8125298 64780 BC052983,NM_022765,AL109947,CH471051,AB048948,AK021999,AK024500,AK025392,AK160384,AK225049,AL122098,BC009972,BC036514,BC042144 AAH52983,Q49AK5,Q5TED6,Q5TED7,Q5TED9,Q6ZMJ8,Q8TDZ2,NP_073602,CAI23342,CAI23343,CAI23344,CAI23345,EAW48339,EAW48340,EAW48341,EAW48342,EAW48343,EAW48344,EAW48345,BAB86289,BAB13949,BAB15790,BAB15124,BAD18727,CAB59266,AAH09972,AAH36514,AAH42144 Hs.33476 DKFZp434B1517|FLJ11937|FLJ21739|MICAL|MICAL-1|NICAL protein-coding 1602728 MICAL2 microtubule associated monoxygenase, calponin and LIM domain containing 2 16675569,15694364,15489334,14702039,12477932,12110185,9872452,9110174,8619474 9645 NM_014632,AC025106,AC079329,CH471064,AB018293,AB110785,AB110786,AF052170,AK122821,AK127301,BC015755,BC017104,BC044577,BC048206,BK000462,BX538021,BX641163 Q5KTR4,NP_055447,EAW68528,EAW68529,EAW68530,EAW68531,BAA34470,BAD83656,BAD83657,AAH44577,DAA01341,CAD97967,CAE46072,O94851,Q5KTR3 Hs.501928 DKFZp686H03148|DKFZp686H2469|KIAA0750|MICAL2PV1|MICAL2PV2 protein-coding 1603016 MICAL3 microtubule associated monoxygenase, calponin and LIM domain containing 3 17081983,15694364,15489334,15461802,15302935,15146197,14702039,12477932,12110185,11181995,10737800,10718198,10591208,10048485 57553 XM_001726352,XM_001725408,XM_001721205,NM_001122731,AC016026,AC016027,CH471193,AB020626,AB037785,AK025369,NM_015241,AK124853,AK126925,AK127487,AK289506,BC006562,BC035213,BC046364,BC047315,BC064400,BC085009,BF928259,BK000464,BK000465,BX647382,CN425716,CR456364,CR976532 NP_056056,XP_001726404,XP_001725460,XP_001721257,NP_001116203,EAW57777,EAW57779,EAW57780,EAW57781,BAA74842,BAA92602,BAC85967,BAF82195,AAH06562,AAH85009,DAA01343,DAA01344,CAG30250,O94909,Q5U4P4,Q6ZV96,Q7RTP6,BAG10388,CAK54648,CAK54947 Hs.528024,Hs.646433 KIAA0819 protein-coding 1602850 MICALCL MICAL C-terminal like 14702039,12110185,15694364 84953 NM_032867,AC025300,CH471064,AK027872,AK123671,BK000463 NP_116256,EAW68527,BAB55422,BAC85674,DAA01342,Q6ZW33 Hs.128196 Ebitein1|FLJ14966 protein-coding 1602200 MICALL1 MICAL-like 1 15489334,15461802,15324660,15302935,14702039,12788069,12477932,12110185,12058051,11258795,10591208 85377 NM_033386,AL022311,CH471095,AB051455,AJ496196,AK056603,AK127819,AL833860,AL834373,BC001090,BC082243,BK000466,CA432878,CB997694,CR456437,CR601225,CR749566 NP_203744,CAI18864,EAW60199,BAB33338,CAD42713,CAD38718,CAD39036,AAH01090,AAH82243,DAA01345,CAG30323,CAH18362,Q641Q8,Q68D58,Q8N3F8,AAI42606,AAI43051,AAI46384,AAI48805 Hs.517610 DKFZp686M2226|FLJ45921|KIAA1668|MICAL-L1|MIRAB13 protein-coding 1605936 MICALL2 MICAL-like 2 17891173,16525024,16344560,15489334,14702039,12975309,12477932,12110185 79778 AC102953,CH236953,CH471144,AK027124,AK074068,AK091986,AK093249,AK123990,AK126808,AK127339,AL833704,AY358755,BC037988,NM_182924,BC039886,BK000467,CR607234,DA945802 NP_891554,EAW87200,EAW87201,BAB15667,BAB84894,BAC03785,BAC85744,BAC86702,BAC86936,CAD98087,AAQ89115,AAH37988,DAA01346,Q6UWK3,Q6ZSL2,Q6ZVW6,Q8IY33,Q8NAW2 Hs.376617,Hs.663699 FLJ23471|FLJ41996|FLJ44858|FLJ45410|JRAB|MGC46023|MICAL-L2 protein-coding 1354237 MICB MHC class I polypeptide-related sequence B This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. 1580863 8022771,9497295,18332098,17678727,17641203,17625602,17561376,17557375,17202358,17003176,16923796,16849432,16776673,16702430,16698444,16698441,16679067,16568261,16101831,16101830,15967992,15640005,15304009,15304008,15192843,15191526,15146197,14662896,12902493,12714493,12682252,12594848,12569559,12538683,12477932,12466900,12392511,12384702,12242594,12133964,12022360,11881819,11862397,11858820,11491531,11239445,11169252,10894171,10746790,10691930,10359807,10047540,9770516,9694358,9321430,9271635,8995188,8952966,8901601,8889548,8824804,8575823,7927538 4277 AJ606918,AJ606919,AJ606920,AJ606921,AJ606922,AJ606923,AJ606927,AJ606928,AJ606929,AJ606930,AJ606931,CH471081,CR788288,U65416,U69978,AF021221,AF021222,AF021223,AF021224,AF021225,AF021226,AK291927,BC044218,BQ216247,BU684700,CN389975,DC427936,U95729,U95730,U95731,U95732,U95733,U95734,AL662866,AL663061,BA000025,BX001040,BX005439,AJ606917,X91625,NM_005931,AB003609,AB003610,AB003611,AB003612,AB003613,AB003614,AB003615,AB003616,AB003617,AB003618,AB088107,AB202111,AJ251156,AJ251158,AJ251160,AJ563706,AJ606906,AJ606907,AJ606908,AJ606909,AJ606910,AJ606911,AJ606912,AJ606913,AJ606914,AJ606915,AJ606916 Q5GR43,Q5GR44,Q5GR46,Q5GR48,Q5RIY5,Q5RIY6,Q5SSK1,Q5ST25,Q7JK51,Q7YQ89,Q861E6,O14501,CAE54943,CAE54944,CAE54945,CAE54946,CAE54947,CAE54948,CAE54949,CAE54953,CAE54954,CAE54955,CAE54956,CAI18748,EAX03402,EAX03403,CAQ09224,CAQ09225,AAB42011,AAB51802,AAC39846,AAC39847,AAC39848,AAC39849,AAC39850,AAC39851,BAF84616,AAH44218,AAB71642,AAB71643,AAB71644,AAB71645,AAB71646,CAE54957,CAI17555,CAI18082,BAB63307,CAI18629,CAI18630,CAI18747,AAB71647,CAA62823,O14499,O14500,O19798,O19799,O19800,O19801,O19802,O19803,O78099,O78100,O78101,O78102,O78103,O78104,P79525,P79541,Q0EFB4,Q29980,Q2L6G0,Q5GR31,Q5GR37,Q5GR41,Q5GR42,NP_005922,BAA23476,BAA23477,BAA23478,BAA23479,BAA23480,BAA23481,BAA23482,BAA23483,BAA23484,BAA23485,BAC54939,BAE78634,CAB72101,CAB72097,CAB72098,CAD91554,CAE54932,CAE54933,CAE54934,CAE54935,CAE54936,CAE54937,CAE54938,CAE54939,CAE54940,CAE54941,CAE54942,Q861I4,Q9MY18,Q9MY19,Q9MY20,Q9UBH4,Q9UBZ8,Q9UEJ0 Hs.549053 GDB:341912 PERB11.2 protein-coding 1344876 MICC MHC class I polypeptide-related sequence C 15967992,10557312,8022771 221549 NG_002727,AL662822,AL662873,AL844203,BA000025 GDB:376270 PERB11.3 pseudo 1344366 MICD MHC class I polypeptide-related sequence D 10557312,8022771 4279 NG_002398,AB023056,AF055066,AL671277 GDB:376272 PERB11.4 pseudo 1346954 MICE MHC class I polypeptide-related sequence E 10331161 4280 NG_002916,AF055066,AL844851 GDB:376274 PERB11.5|dJ377H14.7 pseudo 1349529 MICF MHC class I polypeptide-related sequence F pseudogene 10557312 352957 NG_002398,AB023057,AF055066,AL645929,AL671561 pseudo 1352177 MICG MHC class I polypeptide-related sequence G pseudogene 10557312 352967 AL645939,AL671561,AL844851,BA000025,NG_002733 pseudo 732275 MID1 midline 1 (Opitz/BBB syndrome) The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Several different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. 1580863 10077590,9354791,18220417,18172692,18005432,17672918,17428496,17221865,17081983,17043407,16529770,16498413,16378742,16344560,15558842,15489334,15057556,12833403,12798296,12545276,12477932,12411602,12408967,11806752,11685209,11371618,11331580,11030761,10400985,9722948,9718340,9425238,7493033 4281 NM_033290,NM_001098624,NM_000381,AC002349,AC008008,AC117406,CH471074,AF035360,AF041206,AF041208,AF041210,AF230976,AF230977,AF269101,AK025187,AK226104,AK291215,AY112901,AY539962,AY539963,AY539964,AY539979,AY539980,AY539982,AY539983,AY539984,AY539985,AY539986,AY539989,AY539990,AY539991,AY539994,AY539995,AY539996,AY539997,AY539998,AY540001,AY540009,AY540010,AY540011,AY540012,AY540014,AY540015,AY540016,AY540022,AY540023,BC053626,DA856308,DC309977,DC369426,Y13667 NP_150632,NP_001092094,NP_000372,EAW98779,EAW98780,EAW98781,AAB99951,AAC32998,AAC33000,AAC33002,AAG50191,AAG50192,AAG33130,BAF83904,AAH53626,CAA74018,O15344,ABZ92039 Hs.27695 GDB:9772232 BBBG1|FXY|GBBB1|MIDIN|OGS1|OS|OSX|RNF59|TRIM18|XPRF|ZNFXY midline 1 protein-coding 1344749 MID1IP1 MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) 1580863 16344560,16189514,15489334,15070402,14702039,12477932 58526 NM_001098790,NM_001098791,NM_021242,CH471141,AF050158,AJ272057,AK001248,AW086438,BC008908,BC019332,BK001260,CR457220,CR592650,CR594371,CR595671,CR597771,CR598612,CR610591,CR621138,CR623767,DA138791,AF241728 NP_001092260,NP_001092261,NP_067065,EAW59435,EAW59436,CAB89113,BAA91580,AAH08908,AAH19332,DAA01482,CAG33501,Q9NPA3 Hs.522605,Hs.705525 FLJ10386|G12-like|MIG12|STRAIT11499|THRSPL protein-coding 1602493 MID2 midline 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Its function has not been identified. Alternate splicing of this gene results in two transcript variants encoding different isoforms. 10400986,16713569,16283679,16189514,15772651,15489334,15249690,12477932,11806752,11331580,10644436,10400985 11043 NM_012216,NM_052817,AL034399,AL109946,CH471120,AF196481,AY625004,BC017707,BT006663,Y18880 NP_036348,NP_438112,CAO72052,CAO72053,CAO72054,EAX02701,EAX02702,EAX02703,AAF07341,AAT48105,AAH17707,AAP35309,CAB56154,Q6GX22,Q9UJV3 Hs.12256 GDB:9956276 FXY2|MID1|RNF60|TRIM1 protein-coding 1320070 MIDN midnolin 16303743,12477932,11441184,10974535 90007 NM_177401,AL512725,CH471139,AA421908,AK075506,BC015089,BC060848,BC094778,BM966744,CR598784 NP_796375,EAW69527,EAW69528,EAW69529,BAC11659,AAH15089,AAH94778,Q504T8,Q8N2F3 Hs.465529 GDB:11500938 DKFZp547M072 protein-coding 1605649 MIER1 mesoderm induction early response 1 homolog (Xenopus laevis) 15489334,15302935,15117948,14702039,12482978,12477932,12242014,10997877,9813250,16189514,16565220,12761501,17081983,16710414 57708 NM_020948,NM_001077700,NM_001077702,NM_001077703,NM_001077701,NM_001077704,AL139216,AL500525,CH471059,AB046830,AF515446,AF515447,AF515448,AL831987,AY124186,AY124187,AY124188,AY124189,AY124190,AY124191,AY124192,AY124193,AY124194,BC017423,BC066898,BC125217,BC125218,CR605430,CR627441,BC108726 NP_065999,NP_001071168,NP_001071170,NP_001071171,NP_001071169,NP_001071172,CAI18873,CAI18874,CAI18875,CAI18876,CAI18877,CAI18878,CAI18879,EAX06505,EAX06506,EAX06507,EAX06508,EAX06509,EAX06510,EAX06511,EAX06512,BAB13436,AAM76040,AAM76041,AAM76042,CAD89921,AAM97499,AAM97500,AAM97501,AAM97502,AAM97503,AAM97504,AAM97505,AAM97506,AAM97507,AAH17423,AAH66898,AAI25218,AAI25219,CAH10526,Q08AE0,AAI08727,Q32NC4,Q5T103,Q5T105,Q5T106,Q5TAD1,Q6NXT7,Q8N108 Hs.652983 DKFZp781G0451|ER1|KIAA1610|MGC131940|MGC150640|MGC150641|MI-ER1|RP5-944N15.1|hMI-ER1 protein-coding 1316379 MIER2 mesoderm induction early response 1, family member 2 737633 12477932,10574462 737633 54531 NM_017550,AC016588,AB033019,BC028203 NP_060020,BAA86507,AAH28203 Hs.101891 KIAA1193 protein-coding 1605562 MIER3 mesoderm induction early response 1, family member 3 16381901,16344560,15489336,14702039,12477932,11230166,11076863 166968 NM_152622,AC008937,AC016644,CH471123,AK002183,AK093273,BC013936,BC041348,BX537798,BX640907,BX647359,BX648294,CR749246,CR749805,DB136129 NP_689835,EAW54959,EAW54960,BAC04117,AAH41348,CAD97846,CAE45951,CAI56710,CAH18102,CAH18665,Q0JSP3,Q7Z3K6,CAL38471,ABZ92415 Hs.657594 DKFZP781I1119|DKFZp686L09111|DKFZp781G1119|DKFZp781I1119|FLJ35954 protein-coding 734203 MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. 1580863,1641954,1642000,1642002,1641950,1641957,1641991,1641993,1642006,1642009,1642011,1641953,1641949,1641978,1641983,1641989,1642001,1642003,1642007,1642012,1641951,1641955,1641979,1641984,1641985,1641997,727512,1642008,1642013 18034423,17912466,17906677,17869648,17854804,17786285,17763209,17728788,17712545,17709373,17658526,17620429,17592555,17591062,17559578,17541237,17495357,17438455,17438452,17435771,17224449,17215861,17206642,17181929,17172590,17166737,17142775,17108334,17075815,17029206,17005573,16929348,16893895,16872482,16861224,16854377,16839849,12782713,12681488,18466513,18242614,18235500,18228042,18171602,18165264,18097599,18078632,18074864,18060744,18054247,18037272,8610159,8601455,8289313,8234256,8188240,7947826,7683862,7679497,7558020,3917866,2552447,1286669,17353931,8643551,16820919,16807115,16767681,16724072,16709839,16677407,16538639,16527487,16488392,16388506,16385258,16369812,16317091,16314559,16314470,16285950,16247506,16243796,16224818,16220288,16205314,16200611,16189514,16179637,16133063,16115023,16085663,16051683,16000172,15910597,15910495,15838879,15820792,15815686,15800984,15757663,15659324,15630728,15612021,15592455,15585220,15585204,15576462,15545824,15545061,15489334,15472203,15461802,15308783,15304087,15292349,15286457,15231747,15216464,15170913,15146431,15146413,15065001,15018649,14962818,14760795,14736878,14607690,14581488,14551601,14502271,12965208,12847682,12822893,12796500,12746913,12740374,12738641,12667094,12665801,12631237,12626594,12615835,12612911,12607777,12576459,12507885,12480958,12477932,12445161,12402212,12355488,12218292,12186913,12180727,12126556,12109441,12070782,12032852,12235522,12218308,12009356,11997397,11985788,11978887,11920501,11875000,11508429,11259268,11170644,11089976,10353846,10334104,9027512,9006339,9002552,8988336,8766818,8647256 1641954,1642000,1642002,1641950,1641957,1641991,1641993,1642006,1642009,1642011,1641953,1641949,1641978,1641983,1641989,1642001,1642003,1642007,1642012,1641951,1641955,1641979,1641984,1641985,1641997,727512,1642008,1642013 4282 NM_002415,AP000350,CH471095,DQ307455,L19686,AF469046,BC000447,BC007376,BC007676,BC008914,BC013976,BC022414,BC051440,BC053376,BT007148,CR407644,CR456520,CR541651,CR602271,CR606770,L10612,M25639,M95775,Z23063 NP_002406,EAW59620,ABB96245,AAA21814,AAL78635,AAH00447,AAH07676,AAH08914,AAH13976,AAH22414,AAH53376,AAP35812,CAG28572,CAG30406,CAG46452,AAA35892,AAA36315,AAA36179,CAA80598,P14174,Q6FHV0,CAK54551,CAK54850,ABM83121,ABM86316 Hs.407995 GDB:138402 GIF|GLIF|MMIF macrophage migration inhibitory factor protein-coding 1606529 MIF4GD MIF4G domain containing This gene encodes a protein which contains an MIF4G domain. 18025107,16713569,16189514,15231747,12477932 57409 NM_020679,AC022211,CH471099,AF225422,BC033759,CR593165,CR595273,CR597523,CR605533,CR605810,CR608731,CR622912,CR623253,CR624146,EU287989 ABM84897,NP_065730,EAW89263,EAW89264,EAW89265,EAW89266,AAG09724,AAH33759,ABX83907,Q9HBL5,ABM81741 Hs.325631 AD023|MGC45027|MIFD|SLIP1 protein-coding 1602998 MINA MYC induced nuclear antigen MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM] 17803656,17786344,16344560,16189514,15897898,15819408,15534111,14742713,14702039,14695334,12477932,12091391,8889548 84864 NM_001042533,NM_032778,AC026100,AC110491,CH471052,AB083189,AB083190,AB083191,AB083192,AB083193,AK027299,NM_153182,AL550737,AY302110,AY390536,AY456380,BC014928,BM979079,CR604605,CR626231,CR627479,DA696177,DQ453796 NP_694822,NP_001035998,NP_116167,EAW79872,EAW79873,EAW79874,EAW79875,BAC16537,BAC16358,BAC16359,BAC16360,BAC16361,BAB55024,AAP59421,AAR27293,AAR21572,AAH14928,CAH10679,ABE28016,Q8IUF8 Hs.709502 DKFZp762O1912|FLJ14393|MDIG|MINA53|NO52 protein-coding 1604362 MINK1 misshapen-like kinase 1 (zebrafish) This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. 10708748,17165161,17081983,16760206,15489334,15469942,15302935,14702039,12668260,12665801,12477932,12107410,12087176,8889548 50488 BQ006038,NM_170663,NM_015716,NM_001024937,AB070507,AC109333,CH471108,AB035698,AB041926,AB209450,AF218033,NM_153827,AK096610,AL157418,AY775058,BC028888,BC034673,BC094686,BM674875,CA392419 NP_722549,NP_733763,NP_056531,NP_001020108,BAB97271,EAW90398,EAW90399,EAW90400,EAW90401,EAW90402,EAW90403,BAA90753,BAA94838,BAD92687,AAG17275,AAV41830,AAH34673,Q59FL0,Q5U8Z0,Q8N4C8,Q8NG69,Q9HBM9,ABM82084,ABM85265 Hs.443417 B55|MAP4K6|MGC21111|MINK|YSK2|ZC3|hMINK|hMINKbeta protein-coding 733356 MINPP1 multiple inositol polyphosphate histidine phosphatase, 1 MINPP1 hydrolyzes the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate and, like PTEN (MIM 601728), has the ability to remove 3-phosphate from inositol phosphate substrates.[supplied by OMIM] 737769 10087200,9923613,16344560,16335952,15489334,15164054,12975309,12477932,11536049,11297621,11230166,10938126,9472008 737769 9562 NM_004897,AF046915,AL138767,AL355334,CH471066,AB209819,AF046914,AF084943,AF084944,AL050356,AY358938,BC032504,BU173009,CR595009,DA295586 NP_004888,AAD02438,CAI16029,CAI16030,CAH73422,CAH73423,EAW50185,EAW50186,BAD93056,AAD02437,AAD09751,AAD09752,CAB43673,AAQ89297,AAH32504,Q9UNW1,Q9UPB6 Hs.121260 GDB:9957350 DKFZp564L2016|HIPER1|MINPP2|MIPP protein-coding 737368 MIOX myo-inositol oxygenase 631888,1580863 15778219,15504367,15489334,15461802,14702039,12477932,11716759,10944187,10591208,3017301,2226462 631888 55586 NM_017584,AL096767,CH471138,AF197129,AK000576,AY064416,AY738258,BC012025,BC064395,BC073848,CR456478 NP_060054,CAB63064,CAO03465,CAO03466,CAO03467,EAW73544,EAW73545,EAW73546,EAW73547,AAF25204,BAA91266,AAL47192,AAV65816,AAH12025,AAH73848,CAG30364,Q05DJ6,Q9UGB7,CAK54459,CAK54758 Hs.129227 GDB:11505609 ALDRL6|MGC90217 aldehyde reductase (aldose reductase) like 6 protein-coding 735323 MIP major intrinsic protein of lens fiber Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. 1599936,1580863 1840563,17960133,17893667,16564824,16549056,15489334,15274640,12642491,12522663,12477932,12107413,11001937,10802646,10634618,10067969,9664032,9421492,9268644,8910261,8889548,8566800,8529419,7536742,7525161,2487274,2335219,2176601,1911643,1790714,1505237 1599936 4284 NM_012064,AC024884,CH471054,U36308,BC074913,BC117474,BM696300,BM705396,BM716579,BM724221,CD675949 NP_036196,EAW96940,AAC02794,AAH74913,AAI17475,P30301 Hs.574026 GDB:119394 AQP0|LIM1|MIP26|MP26 major intrinsic protein of eye lens fiber protein-coding 1344343 MIPEP mitochondrial intermediate peptidase The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. 1580863 9073519,12477932,10783257,9373149,8125298,1322290 4285 NM_005932,AL139080,AL157368,AL445985,CH471075,AK225290,AK291923,BC009934,CR616891,U80034 NP_005923,CAI39628,CAI39630,CAM20040,EAX08328,EAX08329,BAF84612,AAH09934,AAC51231,Q99797,ABM84536,ABM87838 Hs.507498 GDB:4568284 HMIP|MIP protein-coding 1344580 MIPOL1 mirror-image polydactyly 1 15489334,12700605,12477932,11954550 145282 NM_138731,AL079304,AL109759,AL121790,AL121857,CH471078,AK291850,AY059470,BC035870,BC036124,BC036523,BX537396,BX537870,BX647795 NP_620059,EAW65846,EAW65847,EAW65848,EAW65849,EAW65850,BAF84539,AAL27798,AAH35870,AAH36124,AAH36523,CAD97638,CAD97872,Q49AL5,Q4G0U7,Q8TD10 Hs.660396 DKFZp313M2036|MGC34010 protein-coding 1604139 MIRHG1 microRNA host gene (non-protein coding) 1 17210683,16266980,16077067,15944709,15944707,15126345,14702039,12477932,11991713 407975 XR_042177,XR_042176,XR_042147,AL138714,AL162375,AB176707,AB176708,AF339828,AK024240,BC040320 Hs.24115,Hs.652877 C13orf25|FLJ14178|MGC126270|MIHG1|MIRH1 miscrna 1346542 MIRN1-1 microRNA 1-1 MicroRNAs (miRNAs) are phylogenetically conserved small RNAs that regulate translation of target mRNAs, providing a mechanism for protein dose regulation. The miRNA1 subfamily contains 2 distinct genes, MIRN1-1 and MIRN1-2 (MIM 610252), that are expressed predominantly in heart and skeletal muscle and encode the same mature miRNA (Zhao et al., 2005 [PubMed 15951802]).[supplied by OMIM] 17606841,15951802 406904 AL449263 MIR1-1|hsa-mir-1-1|miRNA1-1 miscrna 1350943 MIRN1-2 microRNA 1-2 MicroRNAs (miRNAs) are phylogenetically conserved small RNAs that regulate translation of target mRNAs, providing a mechanism for protein dose regulation. The miRNA1 subfamily contains 2 distinct genes, MIRN1-1 (MIM 609326) and MIRN1-2, that are expressed predominantly in heart and skeletal muscle and encode the same mature miRNA (Zhao et al., 2005 [PubMed 15951802]). For further information on the mature miRNA encoded by both MIRN1-1 and MIRN1-2, see MIM 609326.[supplied by OMIM] 15951802 406905 AC103987 MIR1-2|hsa-mir-1-2|miRNA1-2 miscrna 1345382 MIRN100 microRNA 100 11914277 406892 AP001359,AF480498 miR-100 miscrna 1345212 MIRN101-1 microRNA 101-1 406893 AL357078 miscrna 1347793 MIRN101-2 microRNA 101-2 406894 AL158147 miscrna 1351023 MIRN103-1 microRNA 103-1 406895 AC020894 miscrna 1345954 MIRN103-2 microRNA 103-2 406896 AL353194 miscrna 1348325 MIRN105-1 microRNA 105-1 406897 AC108171 miscrna 1350334 MIRN105-2 microRNA 105-2 406898 AC108171 miscrna 1353045 MIRN106A microRNA 106a 406899 AC002407 miscrna 1346496 MIRN106B microRNA 106b 18212054 406900 AC073842 miscrna 1346170 MIRN107 microRNA 107 18234899,12624257,11914277 406901 AL157400,AF480505,AJ550401 miR-107 miscrna 1348739 MIRN10A microRNA 10a MicroRNAs (miRNAs), such as MIRN10A, are 19- to 25-nucleotide noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence-specific manner. Depending on the degree of complementarity between miRNAs and their targets, they can induce translation repression or mRNA degradation (Garzon et al., 2006 [PubMed 16549775]).[supplied by OMIM] 16549775,12624257 406902 AC103702,AJ550394 hsa-mir-10a|miRNA10A|mir-10a miscrna 1352164 MIRN10B microRNA 10b MicroRNAs (miRNAs), such as MIRN10B, are 19- to 25-nucleotide noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence-specific manner. Depending on the degree of complementarity between miRNAs and their targets, they can induce translation repression or mRNA degradation (Garzon et al., 2006 [PubMed 16549775]). MIRN10B is highly expressed in metastatic breast cancer cells and positively regulate cell migration and invasion (Ma et al., 2007 [PubMed 17898713]).[supplied by OMIM] 17898713,16549775,12624257 406903 AC009336,AJ550395 MIR10B|hsa-mir-10b|miRNA10B|mir-10b miscrna 1347392 MIRN122 microRNA 122 MicroRNAs (miRNAs), such as miRNA122, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 17616664,16924677 406906 AC105105 MIR122|MIR122A|MIRN122A|hsa-mir-122|miRNA122|miRNA122A miscrna 1349266 MIRN124-1 microRNA 124-1 MicroRNAs (miRNAs), such as miRNA124A, constitute a large family of noncoding RNAs of approximately 22 nucleotides in length. They are important regulators of development and differentiation (Suh et al., 2004 [PubMed 15183728]).[supplied by OMIM] 15183728 406907 AC055869 MIR124A1|MIRN124A1 miscrna 1346807 MIRN124-2 microRNA 124-2 406908 AC013492 MIRN124A2 miscrna 1342588 MIRN124-3 microRNA 124-3 406909 AL096828 MIRN124A3 miscrna 1353053 MIRN125A microRNA 125a MicroRNAs (miRNAs), such as MIRN125A, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]).[supplied by OMIM] 17400653,12007417 406910 AC018755 MIR125A|miRNA125A miscrna 1352829 MIRN125B1 microRNA 125b-1 MicroRNAs, such as MIRN125B1, are small noncoding RNAs that regulate target gene expression posttranscriptionally through basepairing with their target mRNAs (Lee et al., 2005 [PubMed 15722555]).[supplied by OMIM] 17622355,15722555 406911 AP001924 MIR125B1 miscrna 1342678 MIRN125B2 microRNA 125b-2 MicroRNAs, such as MIRN125B2, are small noncoding RNAs that regulate target gene expression posttranscriptionally through basepairing with their target mRNAs (Lee et al., 2005 [PubMed 15722555]).[supplied by OMIM] 15722555 406912 AP000962 MIR125B2 miscrna 1348236 MIRN126 microRNA 126 MicroRNAs (miRNAs), such as miRNA126, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 18227515 406913 AL590226 MIR126|miRNA126 miscrna 1344992 MIRN127 microRNA 127 MicroRNAs (miRNAs), such as MIRN127, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 15891114 406914 AL117190 MIR127|miRNA127 miscrna 1343624 MIRN128-1 microRNA 128-1 MicroRNAs (miRNAs), such as MIRN128-1, are small noncoding RNAs that play regulatory roles in development, cell proliferation, differentiation, and apoptosis (Mi et al., 2007 [PubMed 18056805]).[supplied by OMIM] 18056805 406915 AC016742 MIR128-1|MIR128A|MIRN128A microrna 128a miscrna 1347002 MIRN128-2 microRNA 128-2 MicroRNAs (miRNAs), such as MIRN128-2, are small noncoding RNAs that play regulatory roles in development, cell proliferation, differentiation, and apoptosis (Mi et al., 2007 [PubMed 18056805]).[supplied by OMIM] 18056805,12624257 406916 AC016943,AJ550404 MIR128-2|MIR128B|MIRN128B|mir-128b microrna 128b miscrna 1350855 MIRN129-1 microRNA 129-1 406917 AC018662 miscrna 1347371 MIRN129-2 microRNA 129-2 12624257 406918 AC068205,AJ550405 mir-129-2 miscrna 1347329 MIRN130A microRNA 130a MicroRNAs (miRNAs), such as MIRN130A, are 19- to 25-nucleotide noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence-specific manner. Depending on the degree of complementarity between miRNAs and their targets, they can induce translation repression or mRNA degradation (Garzon et al., 2006 [PubMed 16549775]).[supplied by OMIM] 16549775 406919 AP000662 MIR130A|miRNA130A miscrna 1344051 MIRN130B microRNA 130b 17573714,12624257 406920 AP000553,AJ550406 mir-130b miscrna 1346883 MIRN132 microRNA 132 MicroRNAs (miRNAs) are small noncoding RNAs that regulate the stability or translation of their target mRNAs. MIRN132 is a light-inducible gene that plays a role in regulating the circadian timing process (Cheng et al., 2007 [PubMed 17553428]).[supplied by OMIM] 17553428 406921 AC090617 MIR132|miRNA132 miscrna 1352770 MIRN133A1 microRNA 133a-1 MicroRNAs (miRNAs) are small noncoding RNAs involved in regulation of gene expression. Two distinct miRNA133A genes, MIRN133A1 and MIRN133A2 (MIM 610255), are expressed predominantly in muscle and encode the same mature miRNA (Sempere et al., 2004; Rao et al., 2006 [PubMed 16731620]).[supplied by OMIM] 16731620 406922 AC103987 MIR133A1 miscrna 1343982 MIRN133A2 microRNA 133a-2 MicroRNAs (miRNAs) are small noncoding RNAs involved in regulation of gene expression. Two distinct miRNA133A genes, MIRN133A1 (MIM 610254) and MIRN133A2, are expressed predominantly in muscle and encode the same mature miRNA (Sempere et al., 2004; Rao et al., 2006 [PubMed 16731620]).[supplied by OMIM] 16731620 406923 AL449263 MIR133A2 miscrna 1352188 MIRN133B microRNA 133b MicroRNAs (miRNAs), such as MIRN133B, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 17761882,12624257 442890 AL391221,AJ550407 MIR133B|miRNA133B|mir-133b miscrna 1347046 MIRN134 microRNA 134 406924 AL132709 miscrna 1349234 MIRN135A1 microRNA 135a-1 406925 AC092045 MIRN135-1 miscrna 1348256 MIRN135A2 microRNA 135a-2 406926 AC018659 MIRN135-2 miscrna 1349548 MIRN135B microRNA 135b 12624257 442891 AC098936,AJ550408 miscrna 1349910 MIRN136 microRNA 136 MicroRNAs (miRNAs), such as MIRN136, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 15891114 406927 AL117190 MIR136|miRNA136 miscrna 1345919 MIRN137 microRNA 137 406928 AC104453 miscrna 1354224 MIRN138-1 microRNA 138-1 406929 AC006058 miscrna 1350565 MIRN138-2 microRNA 138-2 406930 AC012181 miscrna 1354349 MIRN139 microRNA 139 406931 AP003065 miscrna 1353953 MIRN140 microRNA 140 MicroRNAs (miRNAs), such as MIRN140, are noncoding RNAs of 20 to 24 nucleotides that posttranscriptionally regulate gene expression (Tuddenham et al., 2006 [PubMed 16828749]).[supplied by OMIM] 16828749 406932 AC026468 MIR140|miRNA140 miscrna 1345345 MIRN141 microRNA 141 406933 U47924 miscrna 1342882 MIRN142 microRNA 142 406934 AC004687,AJ535836 miscrna 1346221 MIRN143 microRNA 143 15504739 406935 AC131025,AJ535834 miscrna 1350288 MIRN144 microRNA 144 406936 AC024267 miscrna 1353686 MIRN145 microRNA 145 MicroRNAs (miRNAs), such as MIRN145, are short noncoding RNAs that arise from 1 arm of a longer hairpin transcript. miRNAs influence gene expression by binding to complementary sequences in target mRNAs and either inhibiting translation or cleaving the mRNA (Shi et al., 2007 [PubMed 17827156]).[supplied by OMIM] 17827156 406937 AC131025,AJ535835 MIR145|miR-145|miRNA145 miscrna 1344673 MIRN146A microRNA 146a MicroRNAs (miRNAs), such as MIRN146A, are an evolutionarily conserved class of endogenous 22-nucleotide noncoding RNAs involved in posttranscriptional gene repression. In animals, miRNAs are processed from long primary transcripts through a 60-bp hairpin precursor step into mature forms by sequential cutting with 2 RNase III enzymes, Drosha (RNASEN; MIM 608828) and Dicer (MIM 606241). Mature miRNAs are then loaded onto the ribonucleoprotein complex dubbed RISC (RNA-induced silencing complex), where they guide recognition and translational repression or degradation of target mRNAs (Taganov et al., 2006 [PubMed 16885212]).[supplied by OMIM] 18383392,18057241,17622355,16885212 406938 AC091842 MIRN146|miR-146a|miRNA146A microrna 146 miscrna 1603775 MIRN146B microRNA 146b MicroRNAs (miRNAs), such as MIRN146B, are an evolutionarily conserved class of endogenous 22-nucleotide noncoding RNAs involved in posttranscriptional gene repression. In animals, miRNAs are processed from long primary transcripts through a 60-bp hairpin precursor step into mature forms by sequential cutting with 2 RNase III enzymes, Drosha (RNASEN; MIM 608828) and Dicer (MIM 606241). Mature miRNAs are then loaded onto the ribonucleoprotein complex dubbed RISC (RNA-induced silencing complex), where they guide recognition and translational repression or degradation of target mRNAs (Taganov et al., 2006 [PubMed 16885212]).[supplied by OMIM] 16885212 574447 AL121928 MIR146B|miRNA146B miscrna 1347864 MIRN147 microRNA 147 406939 AL592549 miscrna 2290243 MIRN147B microRNA 147b 100126311 AC025580 miscrna 1346027 MIRN148A microRNA 148a 406940 AC010719 MIRN148|hsa-mir-148 miscrna 1351245 MIRN148B microRNA 148b 12624257 442892 AC078778,AJ550409 mir-148b miscrna 1342659 MIRN149 microRNA 149 406941 AC110619 miscrna 1342949 MIRN150 microRNA 150 MicroRNAs (miRNAs), such as MIRN150, are 20- to 24-nucleotide noncoding RNAs found in animals and plants. These small RNAs regulate gene expression at the translational level through interactions with their target mRNAs. MIRN150 is a hematopoietic cell-specific miRNA (Zhou et al., 2007 [PubMed 17438277]).[supplied by OMIM] 17438277 406942 AC010619 MIR150|miRNA150 miscrna 1345628 MIRN151 microRNA 151 17599088 442893 AC105235 hsa-mir-151 miscrna 1349588 MIRN152 microRNA 152 406943 1347166 MIRN153-1 microRNA 153-1 406944 AC114803 miscrna 1352876 MIRN153-2 microRNA 153-2 406945 AC006372 miscrna 1343557 MIRN154 microRNA 154 406946 AL132709 miscrna 1350378 MIRN155 microRNA 155 MicroRNAs (miRNAs), such as miRNA155, are endogenous noncoding RNAs of about 22 nucleotides that regulate mRNAs by targeting them for cleavage or translational repression. The primary miRNA transcript containing the mature miRNA155 sequence, pri-miRNA155, is also referred to as BIC (Kluiver et al., 2005 [PubMed 16041695]).[supplied by OMIM] 18383392,18191785,18048365,17668390,17588946,16675453,16041695,14695998,12661002,12426003 114614 NR_001458,AL109616,AP000223,AP001693,AF402776 Hs.697120 BIC|MIR155|miRNA155 miscrna 1354361 MIRN15A microRNA 15a MicroRNAs (miRNAs), such as miRNA15, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 18362358,16166262 406948 AL137060 MIR15A|hsa-mir-15a|miRNA15A miscrna 1343014 MIRN15B microRNA 15b 406949 AC024221,AJ535833 hsa-mir-15b|miR-15b miscrna 1346096 MIRN16-1 microRNA 16-1 MicroRNAs (miRNAs), such as miRNA16, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 16166262 406950 AL137060 MIR16-1|miRNA16-1 miscrna 1342848 MIRN16-2 microRNA 16-2 406951 AC024221 miscrna 1348634 MIRN17 microRNA 17 MicroRNAs (miRNAs) are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs. The miRNA17 precursor encodes 2 mature miRNAs, miRNA91 and miRNA17, from its 5-prime and 3-prime ends, respectively (Lagos-Quintana et al., 2001 [PubMed 11679670]; Mourelatos et al., 2002 [PubMed 11914277]).[supplied by OMIM] 17284533,16940181,15944709,15944707,11914277,11679670 406952 AL162375,AJ421735 MIR17|MIRN91|hsa-mir-17|miR-17|miR17-3p|miRNA17 miscrna 1351132 MIRN181A1 microRNA 181a-1 12624257 406995 AL136321,AJ550416 MIRN213|mir-213 microrna 213 miscrna 1344915 MIRN181A2 microRNA 181a-2 406954 AL158075 MIRN181A microrna 181a miscrna 1351688 MIRN181B1 microRNA 181b-1 406955 AL136321 miscrna 1349974 MIRN181B2 microRNA 181b-2 406956 AL158075 miscrna 1350100 MIRN181C microRNA 181c 12624257 406957 AC020916,AJ550411 mir-181c miscrna 1603765 MIRN181D microRNA 181d 574457 AC020916 miscrna 1346166 MIRN182 microRNA 182 MicroRNAs (miRNAs), such as MIRN182, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIRN183 (MIM 611608), MIRN96 (MIM 611606), and MIRN182 are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007 [PubMed 17597072]).[supplied by OMIM] 17597072 406958 AC084864 MIR182|miRNA182 miscrna 1342756 MIRN183 microRNA 183 MicroRNAs (miRNAs), such as MIRN183, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIRN183, MIRN96 (MIM 611606), and MIRN182 (MIM 611607) are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007 [PubMed 17597072]).[supplied by OMIM] 17597072,12554860 406959 AC084864,AY194163 MIR183|miR-183|miRNA183 miscrna 1351164 MIRN184 microRNA 184 12554860 406960 AC069082,AY194164 miR-184 miscrna 1347667 MIRN185 microRNA 185 12554860 406961 AC005663,AY194165 miR-185 miscrna 1346900 MIRN186 microRNA 186 12554860,12554859 406962 AL512443,AJ560752,AY194166 miR-186 miscrna 1343777 MIRN187 microRNA 187 12554860 406963 AC118757,AY194167 miR-187 miscrna 1352314 MIRN188 microRNA 188 12554860 406964 AF222686,AY194168 miR-188 miscrna 1350945 MIRN18A microRNA 18a 11679670,17558416,11914277 406953 AL162375,AF480521,AJ421736 MIR18|MIR18A|MIRN18|hsa-mir-18|hsa-mir-18a|miR-18|miRNA18A microrna 18 miscrna 1604873 MIRN18B microRNA 18b 574033 AC002407 hsa-mir-18b miscrna 1347802 MIRN190 microRNA 190 12554860 406965 AC103740,AY194170 miR-190 miscrna 2290210 MIRN190B microRNA 190b 100126346 AL590431 miscrna 1345210 MIRN191 microRNA 191 12554860 406966 AC137630,AY194171 miR-191 miscrna 1353067 MIRN192 microRNA 192 MicroRNAs (miRNAs), such as MIRN192, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 12554860 406967 AP001187,AY194172 MIR192|miR-192|miRNA192 miscrna 1350382 MIRN193A microRNA 193a 406968 AC003101 MIRN193 microrna 193 miscrna 1603767 MIRN193B microRNA 193b 574455 AC040173 miscrna 1348209 MIRN194-1 microRNA 194-1 MicroRNAs (miRNAs), such as MIRN194-1, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 406969 AC103590 MIR194-1 miscrna 1344358 MIRN194-2 microRNA 194-2 MicroRNAs (miRNAs), such as MIRN194-2, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 406970 AP001187 MIR194-2 miscrna 1343846 MIRN195 microRNA 195 MicroRNAs (miRNAs), such as MIRN195, are small, noncoding RNAs of 18 to 25 nucleotides that regulate gene expression in a sequence-specific manner (van Rooij et al., 2006 [PubMed 17108080]).[supplied by OMIM] 17108080 406971 AC040977 MIR195|miRNA195 miscrna 1353314 MIRN196A1 microRNA 196a-1 MicroRNAs (miRNAs), such as miRNA196, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 12554859 406972 AC103702,AJ560753 MIR196A1|MIRN196-1 miscrna 1353191 MIRN196A2 microRNA 196a-2 MicroRNAs (miRNAs), such as miRNA196, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 406973 AC012531 MIR196A2|MIRN196-2 miscrna 1350479 MIRN196B microRNA 196b MicroRNAs (miRNAs), such as miRNA196, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 12554860 442920 AC004080 MIR196B|miR-196b|miRNA196B miscrna 1348973 MIRN197 microRNA 197 MicroRNAs, such as MIRN197, are small noncoding RNAs that regulate translation and stability of their target mRNAs (Lagos-Quintana et al., 2003 [PubMed 12554859]).[supplied by OMIM] 12554859 406974 AL355310,AJ560754 miR-197|miRNA197 miscrna 1347765 MIRN198 microRNA 198 12554859 406975 AC063952,AJ560755 miR-198 miscrna 1346476 MIRN199A1 microRNA 199a-1 MicroRNAs (miRNAs), such as miR199A, are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. Two distinct genes, MIRN199A1 and MIRN199A2 (MIM 610720), encode the same mature miR199A sequence (Fu et al., 2005 [PubMed 15978578]).[supplied by OMIM] 15978578 406976 AC007229 MIR199A1 miscrna 1349796 MIRN199A2 microRNA 199a-2 MicroRNAs (miRNAs), such as miR199A, are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. Two distinct genes, MIRN199A1 (MIM 610719) and MIRN199A2, encode the same mature miR199A sequence (Fu et al., 2005 [PubMed 15978578]). For further information on mature miR199A, see MIM 610719.[supplied by OMIM] 15978578 406977 AL137157 MIR199A2 miscrna 1352073 MIRN199B microRNA 199b 12624257 406978 AL590708,AJ550412 mir-199b miscrna 1347994 MIRN19A microRNA 19a 11914277,11679670 406979 AL162375,AF480522,AJ421737 MIR19A|hsa-mir-19a|miR-19a|miRNA19A miscrna 1346116 MIRN19B1 microRNA 19b-1 11679670 406980 AL162375,AJ421739 MIR19B1|miR-19b-1|miRNA19B1 miscrna 1347760 MIRN19B2 microRNA 19b-2 11679670 406981 AC002407,AJ421740 miR-19b-2 miscrna 1348162 MIRN200A microRNA 200a 406983 AL390719 miscrna 1343713 MIRN200B microRNA 200b 17585049 406984 AL390719 miscrna 1353057 MIRN200C microRNA 200c 17804704 406985 U47924 miscrna 1603774 MIRN202 microRNA 202 574448 AL592071 hsa-mir-202 miscrna 1345431 MIRN203 microRNA 203 MicroRNAs (miRNAs), such as MIRN203, are noncoding RNAs of about 22 nucleotides that can suppress the expression of protein-coding genes by targeting cognate mRNAs for translational repression or degradation (Sonkoly et al., 2007).[supplied by OMIM] 17622355 406986 AL136001 MIR203|miR-203|miRNA203 miscrna 1346904 MIRN204 microRNA 204 MicroRNAs (miRNAs), such as MIRN204, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 406987 AL159990 MIR204|miRNA204 miscrna 1350430 MIRN205 microRNA 205 406988 AL035408 miscrna 1352988 MIRN206 microRNA 206 MicroRNAs (miRNAs), such as MIRN206, are conserved noncoding RNAs of approximately 21 nucleotides that regulate translation and stability of target mRNAs based on sequence complementarity (Lagos-Quintana et al., 2003 [PubMed 12554859]).[supplied by OMIM] 12554859 406989 AL391221 MIR206|miRNA206 miscrna 1346072 MIRN208A microRNA 208a MicroRNAs (miRNAs) are small non-protein-coding RNAs that basepair with specific mRNAs and inhibit translation or promote mRNA degradation (van Rooij et al., 2007 [PubMed 17379774]). MIRN208 is a cardiac-specific microRNA encoded by an intron of the MYH6 gene (MIM 160710) and is required for cardiomyocyte hypertrophy, fibrosis, and expression of MYH7 (MIM 160760) in response to stress and hypothyroidism.[supplied by OMIM] 17379774 406990 AL049829 MIR208|MIRN208|miRNA208 miscrna 2290220 MIRN208B microRNA 208b 100126336 AL132855 miscrna 1352718 MIRN20A microRNA 20a 17135249,15944709,11679670 406982 AL162375,AJ421738 MIR20|MIR20A|MIRN20|hsa-mir-20|hsa-mir-20a|miR-20|miRNA20A microrna 20 miscrna 1604874 MIRN20B microRNA 20b 574032 AC002407 hsa-mir-20b miscrna 1349265 MIRN21 microRNA 21 MicroRNAs (miRNAs), such as MIRN21, are small noncoding RNAs that regulate gene expression by targeting mRNAs of protein-coding genes for either cleavage or inhibition of translation (Chan et al., 2005 [PubMed 16024602]).[supplied by OMIM] 18384814,18196926,17968323,17681183,17622355,17478730,17363372,16024602,15525708,12477932,11914277,11679670 406991 AF480524,AJ421741,AY699265,AC004686,BC053563 Hs.444569 MIR21|hsa-mir-21|miR-21|miRNA21 miscrna 1345765 MIRN210 microRNA 210 12624257 406992 AP006284,AJ550413 mir-210 miscrna 1344448 MIRN211 microRNA 211 12624257 406993 AC009562,AJ550414 mir-211 miscrna 1352239 MIRN212 microRNA 212 18162065,12624257 406994 AC090617,AJ550415 mir-212 miscrna 1347052 MIRN214 microRNA 214 MicroRNAs (miRNAs), such as MIRN214, are small, noncoding RNAs of 18 to 25 nucleotides that regulate gene expression in a sequence-specific manner (van Rooij et al., 2006 [PubMed 17108080]).[supplied by OMIM] 18199536,17108080,12624257 406996 AL137157,AJ550417 MIR214|miRNA214|mir-214 miscrna 1345766 MIRN215 microRNA 215 MicroRNAs (miRNAs), such as MIRN215, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 12624257 406997 AC103590,AJ550418 MIR215|miRNA215|mir-215 miscrna 1353818 MIRN216A microRNA 216a MicroRNAs (miRNAs), such as MIRN216, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 12624257 406998 AC011306,AJ550419 MIR216|MIRN216|miRNA216|mir-216 miscrna 2290236 MIRN216B microRNA 216b 100126319 AC011306 miscrna 1345644 MIRN217 microRNA 217 12624257 406999 AC011306,AJ550420 mir-217 miscrna 1344474 MIRN218-1 microRNA 218-1 12624257 407000 AC021118,AJ550421 mir-218-1 miscrna 1347035 MIRN218-2 microRNA 218-2 12624257 407001 AC011365,AJ550422 mir-218-2 miscrna 1351642 MIRN219-1 microRNA 219-1 MicroRNAs (miRNAs) are small noncoding RNAs that regulate the stability or translation of their target mRNAs. MIRN219-1 is a CLOCK (MIM 601851)-controlled gene that plays a role in regulating the length of the circadian day (Cheng et al., 2007 [PubMed 17553428]).[supplied by OMIM] 17553428,12624257 407002 AL645940,AJ550423 MIR219-1|MRI219-1|mir-219 miscrna 1353680 MIRN219-2 microRNA 219-2 407003 AL359091 miscrna 1345864 MIRN22 microRNA 22 MicroRNAs, such as MIRN22, are noncoding RNAs of 18 to 24 nucleotides that regulate the stability and translational efficiency of complementary target mRNAs (Chang et al., 2008 [PubMed 18066065]).[supplied by OMIM] 18066065,11914277,11679670 407004 AC130343,AF480525,AJ421742 hsa-mir-22|miR-22 miscrna 1350788 MIRN220A microRNA 220a 12624257 407005 AL030996,AJ550424 MIRN220|mir-220 miscrna 2290253 MIRN220B microRNA 220b 100126300 AC010503 miscrna 2290212 MIRN220C microRNA 220c 100126344 AC008403 miscrna 1349484 MIRN221 microRNA 221 MicroRNAs (miRNAs), such as MIRN221, are small noncoding RNAs that regulate gene expression primarily through translational repression (Felli et al., 2005 [PubMed 16330772]).[supplied by OMIM] 17914108,17569667,16330772,12624257 407006 AL034412,AJ550425 MIR221|miRNA221|mir-221 miscrna 1352986 MIRN222 microRNA 222 MicroRNAs (miRNAs), such as MIRN222, are small noncoding RNAs that regulate gene expression primarily through translational repression (Felli et al., 2005 [PubMed 16330772]).[supplied by OMIM] 17914108,17569667,16330772,12624257 407007 AL034412,AJ550426 MIR222|miRNA222|mir-222 miscrna 1342661 MIRN223 microRNA 223 MicroRNAs (miRNAs), such as MIRN223, are small noncoding RNAs that play regulatory roles in development, cell proliferation, differentiation, and apoptosis (Mi et al., 2007 [PubMed 18056805]).[supplied by OMIM] 18056805,17996649,12624257 407008 AL034397,AJ550427 MIR223|miRNA223|mir-223 miscrna 1346129 MIRN224 microRNA 224 18319255 407009 AF274855 miscrna 1351663 MIRN23A microRNA 23a MicroRNAs (miRNAs), such as miRNA23A, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs (Lagos-Quintana et al., 2001 [PubMed 11679670]).[supplied by OMIM] 11679670 407010 AC020916 MIR23A|hsa-mir-23a|miRNA23A miscrna 1349177 MIRN23B microRNA 23b MicroRNAs (miRNAs), such as MIRN23B, are small, noncoding RNAs of 18 to 25 nucleotides that regulate gene expression in a sequence-specific manner (van Rooij et al., 2006 [PubMed 17108080]).[supplied by OMIM] 17108080 407011 AL354893 MIR23B|hsa-mir-23b|miRNA23B miscrna 1342757 MIRN24-1 microRNA 24-1 MicroRNAs (miRNAs) are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. The full-length miR24-1 precursor is processed into 2 mature miRNAs, miR189 and miR24. A second distinct gene, MIRN24-2 (MIM 610724), also encodes the mature miR24 sequence (Abelson et al., 2005 [PubMed 16224024]; Fu et al., 2005 [PubMed 15978578]).[supplied by OMIM] 16224024,15978578,11679670 407012 AL354893,AJ421744 MIR189|miR-24-1|miRNA24-1 miscrna 1344925 MIRN24-2 microRNA 24-2 MicroRNAs (miRNAs), such as miR24, are noncoding RNAs of 20 to 25 nucleotides that regulate gene expression. Two distinct genes, MIRN24-1 (MIM 609705) and MIRN24-2, encode the same mature miR24 sequence (Fu et al., 2005 [PubMed 15978578]). For further information on mature miR24, see MIM 609705.[supplied by OMIM] 15978578,11679670 407013 AC020916,AJ421745 MIR24-2|miR-24-2|miRNA24-2 miscrna 1351042 MIRN25 microRNA 25 18328430,11679670 407014 AC073842,AJ421746 hsa-mir-25|miR-25 miscrna 1347029 MIRN26A1 microRNA 26a-1 407015 AC105752 miscrna 1345037 MIRN26A2 microRNA 26a-2 407016 AC121759 miscrna 1350106 MIRN26B microRNA 26b 11679670 407017 AC021016,AJ421748 hsa-mir-26b|miR-26b miscrna 1345708 MIRN27A microRNA 27a 17546506 407018 AC020916 miscrna 1343068 MIRN27B microRNA 27b MicroRNAs, such as MIRN27B, are small noncoding RNAs that regulate gene expression through translational repression or mRNA cleavage (Tsuchiya et al., 2006 [PubMed 16982751]).[supplied by OMIM] 16982751 407019 AL354893 MIR27B|miRNA27B miscrna 1342536 MIRN28 microRNA 28 11679670 407020 AC063932,AJ421750 hsa-mir-28|miR-28 miscrna 1349952 MIRN296 microRNA 296 MicroRNAs (miRNAs), such as MIRN296, are small noncoding RNAs that downregulate gene expression by hybridizing to complementary target mRNAs, resulting in either downregulated translation or mRNA degradation (Sun et al., 2004).[supplied by OMIM] 407022 AL132655 MIR296|miRNA296 miscrna 2290256 MIRN298 microRNA 298 100126296 AL132655 hsa-mir-298 miscrna 1345678 MIRN299 microRNA 299 407023 AL132709 miscrna 1347397 MIRN29A microRNA 29a 16236258 407021 AC016831 MIR29A|MIRN29|hsa-mir-29|hsa-mir-29a|miRNA29A miscrna 1347389 MIRN29B1 microRNA 29b-1 MicroRNAs (miRNAs) are noncoding RNAs of about 19 to 25 nucleotides that are cleaved from 70- to 100-nucleotide hairpin pre-miRNA precursors. miRNAs bind, through partial sequence homology, to the 3-prime UTRs of target mRNAs, causing a block of translation or, less frequently, mRNA degradation. Two distinct genes, MIRN29B1 and MIRN29B2, produce different pre-miRNAs that encode the same mature miRNA29B sequence (Hwang et al., 2007 [PubMed 17204650]).[supplied by OMIM] 17204650 407024 AC016831 MIR29B1|miRNA29B1 miscrna 1343298 MIRN29B2 microRNA 29b-2 12624257 407025 AL035209,AJ550397 mir-29b-2 miscrna 1351109 MIRN29C microRNA 29c 407026 AL035209 MIR29C|miRNA29C miscrna 2290255 MIRN300 microRNA 300 100126297 AL132709 hsa-mir-300 miscrna 1345841 MIRN301A microRNA 301a 407027 AC099850 MIRN301 miscrna 2290237 MIRN301B microRNA 301b 100126318 AP000553 miscrna 1352230 MIRN302A microRNA 302a 407028 AC106864 MIRN302|hsa-mir-302 miscrna 1349629 MIRN302B microRNA 302b 442894 AC106864 miscrna 1344588 MIRN302C microRNA 302c 442895 AC106864 miscrna 1352286 MIRN302D microRNA 302d 442896 AC106864 miscrna 1352516 MIRN30A microRNA 30a 407029 AL035467 miscrna 1349241 MIRN30B microRNA 30b 407030 AC083843 miscrna 1351898 MIRN30C1 microRNA 30c-1 407031 AL354914 miscrna 1348464 MIRN30C2 microRNA 30c-2 407032 AL136164 miscrna 1344201 MIRN30D microRNA 30d 407033 AC083843 miscrna 1354313 MIRN30E microRNA 30e 407034 AL354914 miscrna 1343532 MIRN31 microRNA 31 11679670 407035 AL353732,AJ421753 hsa-mir-31|miR-31 miscrna 1348727 MIRN32 microRNA 32 MicroRNAs (miRNAs), such as miRNA32, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 11679670 407036 AL354797,AJ421754 MIR32|hsa-mir-32|miR-32|miRNA32 miscrna 1344856 MIRN320 microRNA 320 407037 AC105206 miscrna 1352002 MIRN321 microRNA 321 407038 1348331 MIRN323 microRNA 323 442897 AL132709 hsa-mir-323 miscrna 1343418 MIRN324 microRNA 324 442898 AC120057 hsa-mir-324 miscrna 1350684 MIRN325 microRNA 325 442899 AL139192 hsa-mir-325 miscrna 1348728 MIRN326 microRNA 326 442900 AP000744 hsa-mir-326 miscrna 1348110 MIRN328 microRNA 328 442901 1603791 MIRN329-1 microRNA 329-1 574408 AL132709 miscrna 1603790 MIRN329-2 microRNA 329-2 574409 AL132709 miscrna 1351782 MIRN330 microRNA 330 442902 AC098776 hsa-mir-330 miscrna 1349160 MIRN331 microRNA 331 442903 AC084879 hsa-mir-331 miscrna 1350498 MIRN335 microRNA 335 MicroRNAs (miRNAs), such as miRNA335, are phylogenetically widespread 18- to 25-nucleotide RNAs found in animals and plants. These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 442904 AC007938 MIR335|hsa-mir-335|miRNA335 miscrna 1351844 MIRN337 microRNA 337 442905 AL117190 hsa-mir-337 miscrna 1349158 MIRN338 microRNA 338 442906 AC115099 hsa-mir-338 miscrna 1345058 MIRN339 microRNA 339 442907 AC073957 hsa-mir-339 miscrna 1348329 MIRN33A microRNA 33a 11679670 407039 Z99716,AJ421755 MIRN33|hsa-mir-33|hsa-mir-33a|miR-33 miscrna 1603136 MIRN33B microRNA 33b 693120 AC122129 hsa-mir-33b miscrna 1352110 MIRN340 microRNA 340 442908 AC026413 hsa-mir-340 miscrna 1348172 MIRN342 microRNA 342 442909 AL133523 hsa-mir-342 miscrna 1343414 MIRN345 microRNA 345 442910 AL157871 hsa-mir-345 miscrna 1352152 MIRN346 microRNA 346 MicroRNAs are small noncoding RNAs that regulate translation and stability of their target mRNAs (Lagos-Quintana et al., 2003) [PubMed 12554859].[supplied by OMIM] 12554859 442911 AL732479 hsa-mir-346|miR-346|miRNA346 miscrna 1343452 MIRN34A microRNA 34a MicroRNAs (miRNAs), such as MIRN34A, are short noncoding regulatory RNA molecules that modulate protein expression by promoting RNA degradation, inhibiting mRNA translation, and altering transcription (Raver-Shapira et al., 2007 [PubMed 17540598]).[supplied by OMIM] 17888029,17875987,17554199,17540599,17540598,17297439 407040 AL591166,EF592573,EF609116 MIR34A|miRNA34A miscrna 1352034 MIRN34B microRNA 34b MicroRNAs (miRNAs), such as MIRN34B, enforce posttranscriptional silencing through the RNA interference pathway (He et al., 2007 [PubMed 17554337]).[supplied by OMIM] 17554337 407041 AP002008 MIR34B|miRNA34B miscrna 1348685 MIRN34C microRNA 34c MicroRNAs (miRNAs), such as MIRN34C, enforce posttranscriptional silencing through the RNA interference pathway (He et al., 2007 [PubMed 17554337]).[supplied by OMIM] 17554337 407042 AP002008 MIR34C|miRNA34C miscrna 1346686 MIRN361 microRNA 361 494323 AL022401 hsa-mir-361 miscrna 1604876 MIRN362 microRNA 362 574030 AF222686 hsa-mir-362 miscrna 1604875 MIRN363 microRNA 363 574031 AC002407 hsa-mir-363 miscrna 2290203 MIRN365-1 microRNA 365-1 100126355 AC040173 miscrna 2290202 MIRN365-2 microRNA 365-2 100126356 AC003101 miscrna 1343543 MIRN367 microRNA 367 442912 AC106864 hsa-mir-367 miscrna 1348667 MIRN369 microRNA 369 MicroRNAs, such as MIR369-3, are small noncoding RNAs that recruit an Argonaute (AGO) protein complex to a complementary target mRNA, which results in translation repression or degradation of the mRNA (Vasudevan et al., 2007 [PubMed 18048652]).[supplied by OMIM] 18048652 442914 AL132709 MIR369-3|hsa-mir-369 miscrna 1343857 MIRN370 microRNA 370 17621267 442915 AL117190 hsa-mir-370 miscrna 1346361 MIRN371 microRNA 371 MicroRNAs (miRNAs), such as MIRN371, are small noncoding RNAs that interact with target mRNAs to downregulate gene expression via mRNA degradation or translation inhibition (Voorhoeve et al., 2007 [PubMed 17695719]).[supplied by OMIM] 17695719 442916 AC008753 MIR371|hsa-mir-371 miscrna 1350950 MIRN372 microRNA 372 MicroRNAs (miRNAs), such as MIRN372, are small noncoding RNAs that interact with target mRNAs to downregulate gene expression via mRNA degradation or translation inhibition (Voorhoeve et al., 2007 [PubMed 17695719]).[supplied by OMIM] 17695719 442917 AC008753 MIR372|hsa-mir-372 miscrna 1350507 MIRN373 microRNA 373 MicroRNAs (miRNAs) are small noncoding RNAs that negatively regulate gene expression by repressing translation or directing sequence-specific degradation of target mRNAs. However, some miRNAs, such as MIRN373, positively regulate gene expression (Place et al., 2008 [PubMed 18227514]).[supplied by OMIM] 18227514,17695719 442918 AC008753 MIR373|hsa-mir-373|miRNA373 miscrna 1353102 MIRN374A microRNA 374a 442919 AC004386 MIRN374|hsa-mir-374 miscrna 2290238 MIRN374B microRNA 374b 100126317 AC004386 miscrna 1345165 MIRN375 microRNA 375 MicroRNAs (miRNAs), such as MIRN375, are 21-to 23-nucleotide noncoding RNAs processed from double-stranded hairpin precursors that have been identified in the genomes of a wide range of multicellular life forms, including plants and animals (Poy et al., 2004 [PubMed 15538371]). These small RNAs can regulate gene expression at the translational level through interactions with their target mRNAs.[supplied by OMIM] 15538371 494324 AC097468 MIR375|hsa-mir-375|miRNA375 miscrna 1348680 MIRN376A1 microRNA 376a-1 494325 AL132709 MIR376A-1|MIRN376A microrna 376a miscrna 1606045 MIRN376A2 microRNA 376a-2 664615 AL132709 MIR376A-2 miscrna 1603783 MIRN376B microRNA 376b 574435 AL132709 MIR376B miscrna 1346759 MIRN376C microRNA 376c 442913 AL132709 MIR368|MIRN368|hsa-mir-368|miRNA368 miscrna 1342565 MIRN377 microRNA 377 494326 AL132709 hsa-mir-377 miscrna 1345940 MIRN378 microRNA 378 MicroRNAs (miRNAs), such as MIRN378, are single-stranded noncoding RNAs of 18 to 24 nucleotides that bind to complementary sequences in the 3-prime UTRs of target mRNAs, resulting in translational repression (Lee et al., 2007 [PubMed 18077375]).[supplied by OMIM] 18077375 494327 AC022100 MIR378|hsa-mir-378|miRNA378 miscrna 1350916 MIRN379 microRNA 379 494328 AL132709 hsa-mir-379 miscrna 1350037 MIRN380 microRNA 380 494329 AL132709 hsa-mir-380 miscrna 1346769 MIRN381 microRNA 381 494330 AL132709 hsa-mir-381 miscrna 1343561 MIRN382 microRNA 382 494331 AL132709 hsa-mir-382 miscrna 1348316 MIRN383 microRNA 383 494332 AC084838 hsa-mir-383 miscrna 1344923 MIRN384 microRNA 384 494333 Z84470 hsa-mir-384 miscrna 1603786 MIRN409 microRNA 409 574413 AL132709 hsa-mir-409 miscrna 1603784 MIRN410 microRNA 410 574434 AL132709 hsa-mir-410 microrna miscrna 1603135 MIRN411 microRNA 411 693121 AL132709 hsa-mir-411 miscrna 1603785 MIRN412 microRNA 412 574433 AL132709 hsa-mir-412 miscrna 1603134 MIRN421 microRNA 421 693122 AC004386 hsa-mir-421 miscrna 1352178 MIRN422A microRNA 422a 494334 AC015914 miscrna 1350017 MIRN423 microRNA 423 494335 AC104984 hsa-mir-423 miscrna 1353446 MIRN424 microRNA 424 MicroRNAs (miRNAs) are highly conserved small noncoding RNAs that regulate gene expression through translational repression by base-pairing with partially complementary mRNAs. The miRNA424 precursor stem-loop encodes 2 mature miRNAs, miRNA424 and miRNA322, from its 5-prime arm and its 3-prime arm, respectively (Kasashima et al., 2004 [PubMed 15325244]; Ramasamy et al., 2007 [PubMed 17889671]).[supplied by OMIM] 17889671,15325244 494336 AC004383 MIR424|hsa-mir-424|miRNA424 miscrna 1352547 MIRN425 microRNA 425 494337 AC137630 hsa-mir-425 miscrna 1605756 MIRN429 microRNA 429 554210 AL390719 hsa-mir-429 miscrna 1604871 MIRN431 microRNA 431 MicroRNAs (miRNAs), such as MIRN431, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 15891114 574038 AL117190 MIR431|hsa-mir-431|miRNA431 miscrna 1603771 MIRN432 microRNA 432 574451 AL117190 hsa-mir-432 miscrna 1604872 MIRN433 microRNA 433 MicroRNAs (miRNAs), such as MIRN433, are noncoding RNA molecules of about 22 nucleotides that play important roles in gene regulation (Altuvia et al., 2005 [PubMed 15891114]).[supplied by OMIM] 15891114 574034 AL117190 MIR433|hsa-mir-433|miRNA433 miscrna 1605755 MIRN448 microRNA 448 554212 AL590097 MIR448|hsa-mir-448|miRNA448 miscrna 1605754 MIRN449A microRNA 449a 554213 AC091977 MIRN449|hsa-mir-449 miscrna 1603133 MIRN449B microRNA 449b 693123 AC091977 miscrna 1605753 MIRN450A1 microRNA 450a-1 554214 AC004383 MIRN450|MIRN450-1|MIRN450A-1|hsa-mir-450 miscrna 1603436 MIRN450A2 microRNA 450a-2 574505 AC004383 MIRN450-2|MIRN450A-2 miscrna 2290251 MIRN450B microRNA 450b 100126302 AC004383 miscrna 1603788 MIRN451 microRNA 451 MicroRNAs (miRNAs), such as MIRN451, are noncoding RNAs of about 22 nucleotides that bind complementary sequences in the 3-prime UTRs of target mRNAs to induce nucleolytic degradation or inhibit translation. The primary miRNA transcript (pri-miRNA) that encodes MIRN451 also encodes MIRN144 (MIM 612070) (Dore et al., 2008 [PubMed 18303114]).[supplied by OMIM] 18303114,17964546 574411 AC024267 MIR451|hsa-mir-451 miscrna 1603787 MIRN452 microRNA 452 574412 AF274855 hsa-mir-452 miscrna 1603789 MIRN453 microRNA 453 574410 AL132709 hsa-mir-453 miscrna 2290264 MIRN454 microRNA 454 768216 AC099850 hsa-mir-454 miscrna 1604864 MIRN455 microRNA 455 619556 AL445543 hsa-mir-455 miscrna 1604868 MIRN483 microRNA 483 619552 AC132217 hsa-mir-483 miscrna 1604867 MIRN484 microRNA 484 619553 AC026401 hsa-mir-484 miscrna 1603782 MIRN485 microRNA 485 574436 AL132709 hsa-mir-485 miscrna 1604866 MIRN486 microRNA 486 619554 AC113133 hsa-mir-486 miscrna 1604865 MIRN487A microRNA 487a 619555 AL132709 MIRN487|hsa-mir-487 miscrna 1606044 MIRN487B microRNA 487b 664616 AL132709 miscrna 1603781 MIRN488 microRNA 488 574441 AL022145 hsa-mir-488 miscrna 1603780 MIRN489 microRNA 489 574442 AC003078 hsa-mir-489 miscrna 1603779 MIRN490 microRNA 490 574443 AC009264 hsa-mir-490 miscrna 1603778 MIRN491 microRNA 491 574444 AL445624 hsa-mir-491 miscrna 1603773 MIRN492 microRNA 492 574449 AC117494 hsa-mir-492 miscrna 1603772 MIRN493 microRNA 493 574450 AL117190 hsa-mir-493 miscrna 1603770 MIRN494 microRNA 494 574452 AL132709 hsa-mir-494 miscrna 1603769 MIRN495 microRNA 495 574453 AL132709 hsa-mir-495 miscrna 1603768 MIRN496 microRNA 496 574454 AL132709 hsa-mir-496 miscrna 1603766 MIRN497 microRNA 497 574456 AC040977 hsa-mir-497 miscrna 1603762 MIRN498 microRNA 498 574460 AC011453 hsa-mir-498 miscrna 1603440 MIRN499 microRNA 499 574501 AL132825 hsa-mir-499 miscrna 1603439 MIRN500 microRNA 500 574502 AF222686 hsa-mir-500 miscrna 1603438 MIRN501 microRNA 501 574503 AF222686 hsa-mir-501 miscrna 1603437 MIRN502 microRNA 502 574504 AF222686 hsa-mir-502 miscrna 1603435 MIRN503 microRNA 503 574506 AC004383 hsa-mir-503 miscrna 1603434 MIRN504 microRNA 504 574507 Z82193 hsa-mir-504 miscrna 1603433 MIRN505 microRNA 505 574508 AL590077 hsa-mir-505 miscrna 1603430 MIRN506 microRNA 506 574511 AL589669 hsa-mir-506 miscrna 1603429 MIRN507 microRNA 507 574512 AL589669 hsa-mir-507 miscrna 1603428 MIRN508 microRNA 508 574513 AL589669 hsa-mir-508 miscrna 1603427 MIRN509-1 microRNA 509-1 574514 AL589669 MIRN509|hsa-mir-509 microrna 509 miscrna 2290252 MIRN509-2 microRNA 509-2 100126301 AL589669 miscrna 2290219 MIRN509-3 microRNA 509-3 100126337 AL589669 miscrna 1603426 MIRN510 microRNA 510 574515 AL589669 hsa-mir-510 miscrna 1603777 MIRN511-1 microRNA 511-1 574445 AL928580 miscrna 1603776 MIRN511-2 microRNA 511-2 574446 AC069023 miscrna 1603764 MIRN512-1 microRNA 512-1 574458 AC011453 miscrna 1603763 MIRN512-2 microRNA 512-2 574459 AC011453 miscrna 1603432 MIRN513A1 microRNA 513a-1 574509 AL589669 MIRN513-1 microrna 513-1 miscrna 1603431 MIRN513A2 microRNA 513a-2 574510 AL589669 MIRN513-2|MIRN513A-2 microrna 513-2 miscrna 1603425 MIRN514-1 microRNA 514-1 574516 AL591022 miscrna 1603424 MIRN514-2 microRNA 514-2 574517 AL591022 miscrna 1603423 MIRN514-3 microRNA 514-3 574518 AL591022 miscrna 1603760 MIRN515-1 microRNA 515-1 574462 AC011453 miscrna 1603757 MIRN515-2 microRNA 515-2 574465 AC011453 miscrna 1603725 MIRN516A1 microRNA 516a-1 574498 AC011453 MIRN516-1|MIRN516A-1 miscrna 1603724 MIRN516A2 microRNA 516a-2 574499 AC011453 MIRN516-2|MIRN516A-2 miscrna 1603733 MIRN516B1 microRNA 516b-1 574490 AC011453 MIRN516-4|MIRN516B-1 miscrna 1603738 MIRN516B2 microRNA 516b-2 574485 AC011453 MIRN516-3|MIRN516B-2 miscrna 1603744 MIRN517A microRNA 517a 574479 AC011453 miscrna 1603740 MIRN517B microRNA 517b 574483 AC011453 miscrna 1603731 MIRN517C microRNA 517c 574492 AC011453 miscrna 1603735 MIRN518A1 microRNA 518a-1 574488 AC011453 MIRN518A-1 miscrna 1603732 MIRN518A2 microRNA 518a-2 574491 AC011453 MIRN518A-2 miscrna 1603749 MIRN518B microRNA 518b 574474 AC011453 miscrna 1603746 MIRN518C microRNA 518c 574477 AC011453 miscrna 1603734 MIRN518D microRNA 518d 574489 AC011453 miscrna 1603736 MIRN518E microRNA 518e 574487 AC011453 miscrna 1603751 MIRN518F microRNA 518f 574472 AC011453 miscrna 1603727 MIRN519A1 microRNA 519a-1 574496 AC011453 MIRN519A-1 miscrna 1603441 MIRN519A2 microRNA 519a-2 574500 AC011453 MIRN519A-2 miscrna 1603753 MIRN519B microRNA 519b 574469 AC011453 miscrna 1603756 MIRN519C microRNA 519c 574466 AC011453 miscrna 1603743 MIRN519D microRNA 519d 574480 AC011453 miscrna 1603759 MIRN519E microRNA 519e 574463 AC011453 miscrna 1603755 MIRN520A microRNA 520a 574467 AC011453 miscrna 1603750 MIRN520B microRNA 520b 574473 AC011453 miscrna 1603747 MIRN520C microRNA 520c 574476 AC011453 miscrna 1603741 MIRN520D microRNA 520d 574482 AC011453 miscrna 1603761 MIRN520E microRNA 520e 574461 AC011453 miscrna 1603758 MIRN520F microRNA 520f 574464 AC011453 miscrna 1603739 MIRN520G microRNA 520g 574484 AC011453 miscrna 1603730 MIRN520H microRNA 520h 574493 AC011453 miscrna 1603729 MIRN521-1 microRNA 521-1 574494 AC011453 miscrna 1603742 MIRN521-2 microRNA 521-2 574481 AC011453 miscrna 1603728 MIRN522 microRNA 522 574495 AC011453 hsa-mir-522 miscrna 1603752 MIRN523 microRNA 523 574471 AC011453 hsa-mir-523 miscrna 1603745 MIRN524 microRNA 524 574478 AC011453 hsa-mir-524 miscrna 1603748 MIRN526A1 microRNA 526a-1 574475 AC011453 MIRN526A-1 miscrna 1603737 MIRN526A2 microRNA 526a-2 574486 AC011453 MIRN526A-2 miscrna 1603754 MIRN526B microRNA 526b 574468 AC011453 miscrna 1603726 MIRN527 microRNA 527 574497 AC011453 hsa-mir-527 miscrna 1603132 MIRN532 microRNA 532 693124 AF222686 hsa-mir-532 miscrna 1606048 MIRN539 microRNA 539 664612 AL132709 hsa-mir-539 miscrna 2290246 MIRN541 microRNA 541 100126308 AL132709 hsa-mir-541 miscrna 1606043 MIRN542 microRNA 542 664617 AC004383 hsa-mir-542 miscrna 1606047 MIRN544 microRNA 544 664613 AL132709 hsa-mir-544 miscrna 1606046 MIRN545 microRNA 545 664614 AC004386 hsa-mir-545 miscrna 1603131 MIRN548A1 microRNA 548a-1 693125 AL023655 miscrna 1603130 MIRN548A2 microRNA 548a-2 693126 AL023693 miscrna 1603129 MIRN548A3 microRNA 548a-3 693127 AP002847 miscrna 1603128 MIRN548B microRNA 548b 693128 AL137009 miscrna 1603127 MIRN548C microRNA 548c 693129 AC078962 miscrna 1603126 MIRN548D1 microRNA 548d-1 693130 AC021305 miscrna 1603125 MIRN548D2 microRNA 548d-2 693131 AC110921 miscrna 1603124 MIRN549 microRNA 549 693132 AC027808 hsa-mir-549 miscrna 1603123 MIRN550-1 microRNA 550-1 693133 AC006978 miscrna 1603122 MIRN550-2 microRNA 550-2 693134 AC018645 miscrna 1603121 MIRN551A microRNA 551a 693135 AL513320 miscrna 1603120 MIRN551B microRNA 551b 693136 AC018356 miscrna 1603119 MIRN552 microRNA 552 693137 AC099565 hsa-mir-552 miscrna 1603118 MIRN553 microRNA 553 693138 AL663111 hsa-mir-553 miscrna 1603117 MIRN554 microRNA 554 693139 AL365436 hsa-mir-554 miscrna 1603116 MIRN555 microRNA 555 693140 AL139410 hsa-mir-555 miscrna 1603115 MIRN556 microRNA 556 693141 AL512785 hsa-mir-556 miscrna 1603114 MIRN557 microRNA 557 693142 AL022100 hsa-mir-557 miscrna 1603113 MIRN559 microRNA 559 693144 AC079775 hsa-mir-559 miscrna 1603112 MIRN560 microRNA 560 693145 AC097532 hsa-mir-560 miscrna 1603111 MIRN561 microRNA 561 693146 AC104131 hsa-mir-561 miscrna 1603110 MIRN562 microRNA 562 693147 AC138658 hsa-mir-562 miscrna 1603109 MIRN563 microRNA 563 693148 AC090945 hsa-mir-563 miscrna 1603108 MIRN564 microRNA 564 693149 AC098649 hsa-mir-564 miscrna 1603107 MIRN565 microRNA 565 693150 AC098476 hsa-mir-565 miscrna 1603106 MIRN566 microRNA 566 693151 AC104450 hsa-mir-566 miscrna 1603105 MIRN569 microRNA 569 693154 AC026315 hsa-mir-569 miscrna 1603104 MIRN570 microRNA 570 693155 AC069513 hsa-mir-570 miscrna 1603103 MIRN571 microRNA 571 693156 AC079140 hsa-mir-571 miscrna 1603102 MIRN572 microRNA 572 693157 AC006230 hsa-mir-572 miscrna 1603101 MIRN573 microRNA 573 693158 AC115110 hsa-mir-573 miscrna 1603100 MIRN575 microRNA 575 693160 AC073413 hsa-mir-575 miscrna 1603099 MIRN576 microRNA 576 693161 AC105314 hsa-mir-576 miscrna 1603098 MIRN577 microRNA 577 693162 AC122938 hsa-mir-577 miscrna 1603097 MIRN578 microRNA 578 693163 AC012504 hsa-mir-578 miscrna 1603096 MIRN579 microRNA 579 693164 AC008949 hsa-mir-579 miscrna 1603095 MIRN580 microRNA 580 693165 AC008942 hsa-mir-580 miscrna 1603094 MIRN581 microRNA 581 693166 AC024571 hsa-mir-581 miscrna 1603093 MIRN582 microRNA 582 693167 AC117527 hsa-mir-582 miscrna 1603092 MIRN583 microRNA 583 693168 AC104123 hsa-mir-583 miscrna 1603091 MIRN584 microRNA 584 693169 AC011364 hsa-mir-584 miscrna 1603090 MIRN585 microRNA 585 693170 AC112165 hsa-mir-585 miscrna 1603089 MIRN586 microRNA 586 693171 AL138880 hsa-mir-586 miscrna 1603088 MIRN587 microRNA 587 693172 AL080314 hsa-mir-587 miscrna 1603087 MIRN588 microRNA 588 693173 AL356534 hsa-mir-588 miscrna 1603086 MIRN589 microRNA 589 693174 AC092171 hsa-mir-589 miscrna 1603085 MIRN590 microRNA 590 693175 AC005057 hsa-mir-590 miscrna 1603084 MIRN591 microRNA 591 693176 AC096775 hsa-mir-591 miscrna 1603083 MIRN592 microRNA 592 693177 AC000364 hsa-mir-592 miscrna 1603082 MIRN593 microRNA 593 693178 AC008039 hsa-mir-593 miscrna 1603081 MIRN595 microRNA 595 693180 AC078942 hsa-mir-595 miscrna 1603080 MIRN596 microRNA 596 693181 AC019257 hsa-mir-596 miscrna 1603079 MIRN597 microRNA 597 693182 AC103834 hsa-mir-597 miscrna 1603078 MIRN598 microRNA 598 693183 AC105108 hsa-mir-598 miscrna 1603077 MIRN599 microRNA 599 693184 AC026827 hsa-mir-599 miscrna 1603076 MIRN600 microRNA 600 693185 AL365338 hsa-mir-600 miscrna 1603075 MIRN601 microRNA 601 693186 AL445489 hsa-mir-601 miscrna 1603074 MIRN602 microRNA 602 693187 AL611925 hsa-mir-602 miscrna 1603073 MIRN603 microRNA 603 693188 AC063961 hsa-mir-603 miscrna 1603072 MIRN604 microRNA 604 693189 AL160060 hsa-mir-604 miscrna 1603071 MIRN605 microRNA 605 693190 AC069079 hsa-mir-605 miscrna 1603070 MIRN606 microRNA 606 693191 AL589863 hsa-mir-606 miscrna 1603069 MIRN607 microRNA 607 693192 AL162502 hsa-mir-607 miscrna 1603068 MIRN608 microRNA 608 693193 AL133215 hsa-mir-608 miscrna 1603067 MIRN609 microRNA 609 693194 AL139341 hsa-mir-609 miscrna 1603066 MIRN610 microRNA 610 693195 AC090159 hsa-mir-610 miscrna 1603065 MIRN611 microRNA 611 693196 AP002380 hsa-mir-611 miscrna 1603064 MIRN612 microRNA 612 693197 AP000769 hsa-mir-612 miscrna 1603063 MIRN613 microRNA 613 693198 AC007215 hsa-mir-613 miscrna 1603062 MIRN614 microRNA 614 693199 AC007688 hsa-mir-614 miscrna 1602936 MIRN616 microRNA 616 693201 AC022506 hsa-mir-616 miscrna 1602935 MIRN617 microRNA 617 693202 AC025568 hsa-mir-617 miscrna 1602934 MIRN618 microRNA 618 693203 AC068798 hsa-mir-618 miscrna 1602933 MIRN619 microRNA 619 693204 AC087893 hsa-mir-619 miscrna 1602932 MIRN621 microRNA 621 693206 AL161614 hsa-mir-621 miscrna 1602931 MIRN622 microRNA 622 693207 AL354915 hsa-mir-622 miscrna 1602930 MIRN623 microRNA 623 693208 AL136961 hsa-mir-623 miscrna 1602929 MIRN624 microRNA 624 693209 AL049830 hsa-mir-624 miscrna 1602928 MIRN625 microRNA 625 693210 AL355840 hsa-mir-625 miscrna 1602927 MIRN626 microRNA 626 693211 AC073657 hsa-mir-626 miscrna 1602926 MIRN627 microRNA 627 693212 AC036103 hsa-mir-627 miscrna 1602925 MIRN628 microRNA 628 693213 AC018926 hsa-mir-628 miscrna 1602924 MIRN629 microRNA 629 693214 AC068327 hsa-mir-629 miscrna 1602923 MIRN630 microRNA 630 693215 AC100827 hsa-mir-630 miscrna 1602922 MIRN631 microRNA 631 693216 AC068338 hsa-mir-631 miscrna 1602921 MIRN632 microRNA 632 693217 AC005899 hsa-mir-632 miscrna 1602920 MIRN633 microRNA 633 693218 AC005972 hsa-mir-633 miscrna 1602919 MIRN634 microRNA 634 693219 AC005918 hsa-mir-634 miscrna 1602918 MIRN635 microRNA 635 693220 AC007780 hsa-mir-635 miscrna 1602917 MIRN636 microRNA 636 693221 AC005837 hsa-mir-636 miscrna 1602916 MIRN637 microRNA 637 693222 AC011488 hsa-mir-637 miscrna 1602915 MIRN639 microRNA 639 693224 AC009004 hsa-mir-639 miscrna 1602914 MIRN640 microRNA 640 693225 AC092067 hsa-mir-640 miscrna 1602913 MIRN641 microRNA 641 693226 AC118344 hsa-mir-641 miscrna 1602912 MIRN642 microRNA 642 693227 AC006132 hsa-mir-642 miscrna 1602911 MIRN643 microRNA 643 693228 AC010320 hsa-mir-643 miscrna 1602910 MIRN645 microRNA 645 693230 AL133230 hsa-mir-645 miscrna 1602909 MIRN646 microRNA 646 693231 AL035070 hsa-mir-646 miscrna 1602908 MIRN647 microRNA 647 693232 AL118506 hsa-mir-647 miscrna 1602907 MIRN648 microRNA 648 693233 AC016027 hsa-mir-648 miscrna 1602906 MIRN649 microRNA 649 693234 AC002472 hsa-mir-649 miscrna 1602013 MIRN650 microRNA 650 723778 D87021 hsa-mir-650 miscrna 1602012 MIRN651 microRNA 651 723779 AC097626 hsa-mir-651 miscrna 1601677 MIRN652 microRNA 652 724022 AL360224 hsa-mir-652 miscrna 1601676 MIRN653 microRNA 653 724023 AC003078 hsa-mir-653 miscrna 1601675 MIRN654 microRNA 654 724024 AL132709 hsa-mir-654 miscrna 1601674 MIRN655 microRNA 655 724025 AL132709 hsa-mir-655 miscrna 1601673 MIRN656 microRNA 656 724026 AL132709 hsa-mir-656 miscrna 1601672 MIRN657 microRNA 657 724027 AC115099 hsa-mir-657 miscrna 1601671 MIRN658 microRNA 658 724028 Z97630 hsa-mir-658 miscrna 1601670 MIRN659 microRNA 659 724029 Z97630 hsa-mir-659 miscrna 1601669 MIRN660 microRNA 660 724030 AF222686 hsa-mir-660 miscrna 1601668 MIRN661 microRNA 661 724031 AC109322 hsa-mir-661 miscrna 1601667 MIRN662 microRNA 662 724032 AL031258 hsa-mir-662 miscrna 1601666 MIRN663 microRNA 663 724033 AL121904 hsa-mir-663 miscrna 2290240 MIRN665 microRNA 665 100126315 AL117190 hsa-mir-665 miscrna 2290266 MIRN668 microRNA 668 768214 AL132709 hsa-mir-668 miscrna 2290267 MIRN671 microRNA 671 768213 AC021097 hsa-mir-671 miscrna 2290195 MIRN675 microRNA 675 100033819 AC051649 hsa-mir-675 miscrna 1351622 MIRN7-1 microRNA 7-1 18086561,12624257 407043 AL354733,AJ550391 hsa-mir-7-1|mir-7-1 miscrna 1344921 MIRN7-2 microRNA 7-2 12624257 407044 AC013489,AJ550392 hsa-mir-7-2|mir-7-2 miscrna 1348311 MIRN7-3 microRNA 7-3 12624257 407045 AC006537,AJ550393 hsa-mir-7-3|mir-7-3 miscrna 2290222 MIRN708 microRNA 708 100126333 AP001838 hsa-mir-708 miscrna 2290242 MIRN744 microRNA 744 100126313 AC005410 hsa-mir-744 miscrna 2290268 MIRN758 microRNA 758 768212 AL132709 hsa-mir-758 miscrna 2290208 MIRN760 microRNA 760 100126348 AL049796 hsa-mir-760 miscrna 2290260 MIRN765 microRNA 765 768220 AL356104 hsa-mir-765 miscrna 2290262 MIRN766 microRNA 766 768218 AC004913 hsa-mir-766 miscrna 2290265 MIRN767 microRNA 767 768215 AC108171 hsa-mir-767 miscrna 2290259 MIRN768 microRNA 768 768221 AC010653 hsa-mir-768 miscrna 2290263 MIRN769 microRNA 769 768217 AC007785 hsa-mir-769 miscrna 2290258 MIRN770 microRNA 770 768222 AL117190 hsa-mir-770 miscrna 2290257 MIRN801 microRNA 801 768223 AL840644 hsa-mir-801 miscrna 2290261 MIRN802 microRNA 802 768219 AF015720 hsa-mir-802 miscrna 2290239 MIRN873 microRNA 873 100126316 AL158072 hsa-mir-873 miscrna 2290213 MIRN874 microRNA 874 100126343 AC106775 hsa-mir-874 miscrna 2290245 MIRN875 microRNA 875 100126309 AC026827 hsa-mir-875 miscrna 2290244 MIRN876 microRNA 876 100126310 AL158072 hsa-mir-876 miscrna 2290241 MIRN877 microRNA 877 MIRN877 belongs to a subfamily of microRNAs (miRNAs), called mirtrons, that arise from short hairpin introns. Mirtrons differ from canonical miRNAs in that they use splicing rather than cleavage by Drosha (RNASEN; MIM 608828) to generate pre-miRNA hairpins. Upon release by the splicing machinery, mirtrons access the canonical miRNA pathway during nuclear export and are cleaved by Dicer (MIM 606241) for incorporation into silencing complexes (Berezikov et al., 2007 [PubMed 17964270]).[supplied by OMIM] 17964270 100126314 AL662800 MIR877|hsa-mir-877|miRNA877 miscrna 2290221 MIRN885 microRNA 885 100126334 AC090841 hsa-mir-885 miscrna 2290254 MIRN886 microRNA 886 100126299 AC005219 hsa-mir-886 miscrna 2290209 MIRN887 microRNA 887 100126347 AC091872 hsa-mir-887 miscrna 2290248 MIRN888 microRNA 888 100126306 AL445258 hsa-mir-888 miscrna 2290211 MIRN889 microRNA 889 100126345 AL132709 hsa-mir-889 miscrna 2290250 MIRN890 microRNA 890 100126303 AL445258 hsa-mir-890 miscrna 2290215 MIRN891A microRNA 891a 100126341 AL358174 miscrna 2290249 MIRN891B microRNA 891b 100126304 AL445258 miscrna 2290214 MIRN892A microRNA 892a 100126342 AL445258 miscrna 2290247 MIRN892B microRNA 892b 100126307 AL445258 miscrna 1350966 MIRN9-1 microRNA 9-1 MicroRNAs (miRNAs), such as miRNA9, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]). In humans, 3 genes encode miRNA9: MIRN9-1, MIRN9-2 (MIM 611187), and MIRN9-3 (MIM 611188).[supplied by OMIM] 12007417 407046 AL139130 MIR9-1|hsa-mir-9-1|miRNA9-1 miscrna 1347128 MIRN9-2 microRNA 9-2 MicroRNAs (miRNAs), such as miRNA9, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]). In humans, 3 genes encode miRNA9: MIRN9-1 (MIM 611186), MIRN9-2, and MIRN9-3 (MIM 611188).[supplied by OMIM] 12007417 407047 AC026701 MIR9-2|hsa-mir-9-2|miRNA9-2 miscrna 1345298 MIRN9-3 microRNA 9-3 MicroRNAs (miRNAs), such as miRNA9, are small noncoding RNAs that control translation of target mRNAs by binding to sites of antisense complementarity in 3-prime UTRs (Lagos-Quintana et al., 2002 [PubMed 12007417]). In humans, 3 genes encode miRNA9: MIRN9-1 (MIM 611186), MIRN9-2 (MIM 611187), and MIRN9-3.[supplied by OMIM] 12007417 407051 AC133637 MIR9-3|hsa-mir-9-3|miRNA9-3 miscrna 2290235 MIRN920 microRNA 920 100126320 AC087322 hsa-mir-920 miscrna 2290207 MIRN921 microRNA 921 100126349 AL596087 hsa-mir-921 miscrna 2290234 MIRN922 microRNA 922 100126321 AC024560 hsa-mir-922 miscrna 2290233 MIRN923 microRNA 923 100126322 AC022916 hsa-mir-923 miscrna 2290232 MIRN924 microRNA 924 100126323 AC099845 hsa-mir-924 miscrna 1346101 MIRN92A1 microRNA 92a-1 407048 AL162375 MIR92-1|MIRN92-1|MIRN92A-1|miRNA92-1 miscrna 1347660 MIRN92A2 microRNA 92a-2 407049 AC002407 MIRN92-2|MIRN92A-2 miscrna 1344413 MIRN93 microRNA 93 11914277 407050 AC073842,AF480531 hsa-mir-93|miR-93 miscrna 2290206 MIRN933 microRNA 933 100126350 AC096649 hsa-mir-933 miscrna 2290231 MIRN934 microRNA 934 100126324 Z97632 hsa-mir-934 miscrna 2290230 MIRN935 microRNA 935 100126325 AC008440 hsa-mir-935 miscrna 2290229 MIRN936 microRNA 936 100126326 AL138761 hsa-mir-936 miscrna 2290218 MIRN937 microRNA 937 100126338 AC105219 hsa-mir-937 miscrna 2290228 MIRN938 microRNA 938 100126327 AL160060 hsa-mir-938 miscrna 2290205 MIRN939 microRNA 939 100126351 AF205589 hsa-mir-939 miscrna 2290227 MIRN940 microRNA 940 100126328 AC009065 hsa-mir-940 miscrna 2290226 MIRN941-1 microRNA 941-1 100126329 AL118506 miscrna 2290217 MIRN941-2 microRNA 941-2 100126339 AL118506 miscrna 2290204 MIRN941-3 microRNA 941-3 100126352 AL118506 miscrna 2290225 MIRN941-4 microRNA 941-4 100126330 AL118506 miscrna 2290224 MIRN942 microRNA 942 100126331 AL391476 hsa-mir-942 miscrna 2290223 MIRN943 microRNA 943 100126332 AL132868 hsa-mir-943 miscrna 2290216 MIRN944 microRNA 944 100126340 AC063939 hsa-mir-944 miscrna 1346798 MIRN95 microRNA 95 11914277 407052 AC097381,AF480533 hsa-mir-95|miR-95 miscrna 1349367 MIRN96 microRNA 96 MicroRNAs (miRNAs), such as MIRN96, are noncoding regulatory RNAs of 18 to 24 nucleotides that influence translation and stability of target mRNAs. MIRN183 (MIM 611608), MIRN96, and MIRN182 (MIM 611607) are transcribed in tandem as a single polycistronic primary transcript (Xu et al., 2007 [PubMed 17597072]).[supplied by OMIM] 17597072,11914277 407053 AC084864,AF480534 MIR96|hsa-mir-96|miR-96|miRNA96 miscrna 1344194 MIRN98 microRNA 98 11914277 407054 AL592046,AF480536 hsa-mir-98|miR-98 miscrna 1349808 MIRN99A microRNA 99a 407055 AP000962 miscrna 1351824 MIRN99B microRNA 99b 407056 AC018755 miscrna 1347279 MIRNLET7A1 microRNA let-7a-1 MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, including LET7A1, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lagos-Quintana et al., 2001 [PubMed 11679670]; Lee and Dutta, 2007 [PubMed 17437991]).[supplied by OMIM] 17957144,17660297,17437991,17220301,16651716,11679670 406881 AL158152,AJ421724 let-7a-1 miscrna 1344903 MIRNLET7A2 microRNA let-7a-2 11679670 406882 AP001359,AJ421725 let-7a-2 miscrna 1353923 MIRNLET7A3 microRNA let-7a-3 17974952,11679670 406883 AL049853,AJ421726 let-7a-3 miscrna 1348805 MIRNLET7B microRNA let-7b MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. Among the human LET7 miRNAs, LET7B and LET7E (MIM 611250) are most divergent, with differences in 4 nucleotides. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670 406884 AL049853,AJ421727 MIRLET7B|hsa-let-7b|let-7b miscrna 1345563 MIRNLET7C microRNA let-7c 11679670 406885 AP000962,AJ421728 hsa-let-7c|let-7c miscrna 1343706 MIRNLET7D microRNA let-7d 11679670 406886 AL158152,AJ421729 hsa-let-7d|let-7d miscrna 1352382 MIRNLET7E microRNA let-7e MicroRNAs (miRNAs) are small noncoding regulatory RNAs that downregulate transcription by targeting specific mRNAs. Let7, one of the founding members of the miRNA family, was first identified in C. elegans. There are several human homologs of C. elegans let7, and all of these LET7 miRNAs share an identical seed sequence critical for target recognition. Among the human LET7 miRNAs, LET7B (MIM 611249) and LET7E are most divergent, with differences in 4 nucleotides. In human, mouse, and C. elegans, expression of LET7 is barely detectable in embryonic stages, but it increases after differentiation and in mature tissues (Lee and Dutta, 2007 [PubMed 17437991]). For further information on LET7, see LET7A1 (MIM 605386).[supplied by OMIM] 17437991,11679670 406887 AC018755,AJ421730 MIRLET7E|hsa-let-7e|let-7e miscrna 1350549 MIRNLET7F1 microRNA let-7f-1 11679670 406888 AL158152,AJ421731 let-7f-1 miscrna 1347408 MIRNLET7F2 microRNA let-7f-2 11679670 406889 AL592046,AJ421732 let-7f-2 miscrna 1344572 MIRNLET7G microRNA let-7g 406890 AC092045 hsa-let-7g miscrna 1348497 MIRNLET7I microRNA let-7i 406891 AC048341 hsa-let-7i miscrna 1346036 MIS12 MIS12, MIND kinetochore complex component, homolog (yeast) 1580863 15502821,12515822,16585270,16381901,15489336,15489334,14702039,12477932,11230166,11076863,15371340 79003 NM_024039,AC004148,AC055839,CH471108,AK056072,AK289939,AL136906,BC000229,CR533460 NP_076944,EAW90328,BAB71088,BAF82628,CAB66840,AAH00229,CAG38491,Q0JSS9,Q9H081,CAL37850,CAL38435 Hs.267194 2510025F08Rik|KNTC2AP|MGC2488|MTW1|hMis12 mis12 homolog (yeast) protein-coding 1605010 MIST mast cell immunoreceptor signal transducer MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM] 10744659,14702039,12477932,11463797,10562326 116449 NM_052964,AC005599,AC084048,CH471069,AB032369,AB110420,AK093001,BC029887 NP_443196,EAW92693,BAA96241,BAC76765,AAH29887,Q7Z7G1 Hs.678910 CLNK|MGC35197 protein-coding 1602187 MITD1 MIT, microtubule interacting and transport, domain containing 1 16730941,15815621,15489334,12477932 129531 NM_138798,AC092587,CH471127,CQ859758,AL161992,BC018453,CR608207 NP_620153,AAX88928,EAX01884,EAX01885,EAX01886,EAX01887,CAH25929,CAH10777,AAH18453,Q8WV92 Hs.14222 protein-coding 735982 MITF microphthalmia-associated transcription factor This gene encodes a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. It regulates the differentiation and development of melanocytes retinal pigment epithelium and is also responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. 1599944,1599943,1580863 9647758,10578055,18316599,18039926,17975146,17627390,17516926,17464203,17250547,17182868,17159916,16766266,16586042,16524430,16510564,16455654,16420247,16411896,16140982,16129781,16001072,15983061,15884099,15715979,15623583,15507434,15489334,15205688,14744763,14737107,13985019,12944398,12819038,12753399,12666593,12663655,12477932,12235125,12204775,12086670,12048204,12032083,11930005,11929831,11818452,11792706,11764295,16489066,11751862,11709556,11350962,11331755,11230166,11176068,10851256,10760582,10694430,10673502,10587587,9918847,9856573,9806910,9700169,9660747,9500554,9440696,9158138,8995290,8659547,8645245,8589691,8069297,7969144,7951321,7874167,666627,16189514,15716956,15607961 1599944,1599943 4286 AB006909,AB006988,AK291318,AL110195,AL117653,BC011461,BC012503,BC026961,BC065243,BM800230,BQ219650,BU167035,Z29678,NM_198159,NM_006722,NM_198177,NM_198178,NM_000248,NM_198158,AB009608,AB032357,AB032358,AB032359,AC099326,AC104445,AC104449,AC124915,AF034755,CH471055,D82874 BAA32288,BAB83926,BAF84007,CAB53672,AAH11461,AAH12503,AAH26961,AAH65243,CAA82775,O75030,Q8WYR3,Q96EB5,Q96F96,NP_937802,NP_006713,NP_937820,NP_937821,NP_000239,NP_937801,BAA95209,BAA95206,BAA95207,BAA95208,AAC39639,EAW65479,EAW65480,EAW65481,EAW65482,EAW65483,EAW65484 Hs.166017,Hs.618266 GDB:214776 MI|WS2A protein-coding 1320666 MIXL1 Mix1 homeobox-like 1 (Xenopus laevis) Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM] 1580863 18032708,17303500,15982639,12477932,12095687,12070013 83881 NM_031944,AF218357,AL592045,CH471098,AF211891,BC111974,BC113441 NP_114150,AAK01479,CAH71924,EAW69778,EAW69779,AAG35776,AAI11975,AAI13442,Q9H2W2 Hs.710576 GDB:11511186 MGC138179|MILD1|MIX|MIXL protein-coding 1603667 MIZF MBD2-interacting zinc finger MIZF interacts with methyl-CpG-binding protein-2 (MBD2; MIM 603547), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression.[supplied by OMIM] 17974976,17176114,17163457,17049487,16786000,16189514,15988025,15541338,15489334,14752047,14702039,14585971,12477932,11553631,12665568 25988 BC001073,BC001945,BC012856,BC017234,BF726036,BG821695,NM_015517,NM_198971,AP002956,AP003391,CH471065,AK056362,AK092869,AL080201,CR599076 AAH01073,AAH01945,AAH12856,AAH17234,NP_056332,NP_945322,EAW67460,EAW67461,EAW67462,EAW67463,CAB45773,Q9BQA5,ABM85573 Hs.504091 DKFZP434F162|HiNF-P|ZNF743 protein-coding 1313525 MKI67 antigen identified by monoclonal antibody Ki-67 1580863 15048881,14707453,14674120,14659764,14627346,14582704,12716386,12649825,12647790,12607601,12575534,12532420,12485163,12479099,12434121,12432453,12174912,12125971,12051866,11925591,11857304,11839580,11783017,11759064,11744991,11570981,10878014,10548634,10502411,9087533,8889548,2571566,11342549,8227122,18301453,18165175,18077791,18038314,18019405,18018472,17972530,17923265,17885492,17848143,17713095,17695500,17693651,17647192,17594714,17593084,17531085,17525640,17525638,17525627,17490723,17377809,17310847,17296585,17285761,17234468,17227124,17188136,17143016,17081983,17065089,16984615,16964243,16948516,16882345,16804724,16723309,16681683,16629645,16623776,16609045,16574316,16565220,16533178,16479062,16351648,16295759,16255765,16244663,16206250,16171567,16097446,16045773,15964376,15953875,15931389,15871722,15809747,15679862,15638382,15638377,15638357,15591788,15545971,15452376,15302935,15217948,15214825,15164054,15104289,15068320,2012175,1769665,16260903,11793364 4288 NM_002417,AL355529,AL390236,CH471066,X94762,AJ567756,BM699306,BU855841,CR607300,X65550,X65551 NP_002408,CAI16902,CAH73169,EAW49177,EAW49178,EAW49179,CAA64388,CAD99006,CAA46519,CAA46520,P46013,Q70L73 Hs.80976 GDB:120185 KIA|Ki-67 protein-coding 1345364 MKI67IP MKI67 (FHA domain) interacting nucleolar phosphoprotein 1302356 11342549,16565220,16244663,15815621,15635413,15489334,14659764,12477932,12429849 1302356 84365 Q9BYG3 CH471103,AB044971,NM_032390,AC018737,BC012457,BC022990,BC024238,CR594765,CR598208,CR605493,CR608149,CR618977,CR620927 AAY14830,EAW95259,EAW95260,EAW95261,BAB41210,NP_115766,AAH12457,AAH22990,AAH24238,Q9BYG3,ABM82604,ABM85789 Hs.367842 GDB:11506237 NIFK|Nopp34 protein-coding 1318801 MKKS McKusick-Kaufman syndrome This gene encodes a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene. 1581208,1582516,1580863,1601414 17353931,10802661,11256614,17003356,16381901,15731008,15489336,15483080,12837689,12477932,12107442,11780052,11567139,11230166,11179009,11076863,10973251,10973238,9467007 1581208,1582516,1601414 8195 NM_170784,NM_018848,AL034430,CH471133,AF075024,AF221992,AF221993,AF275813,AK025741,AK291925,AL157427,BC009180,BC013287,BC028973,BM019257,CR597193 NP_740754,NP_061336,CAC16847,EAX10343,EAX10344,EAX10345,AAF73872,AAF73873,AAG23823,BAB15230,BAF84614,CAB75652,AAH28973,Q0JUB5,Q8IZ22,Q9H6M6,Q9HB66,Q9NPJ1,CAL37896 Hs.472119 GDB:9860197 BBS6|HMCS|KMS|MKS protein-coding 1312564 MKL1 megakaryoblastic leukemia (translocation) 1 The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. 1599948,1580863 14565952,18056415,17947237,17599918,17525332,17287340,17081983,16964243,16710414,16098147,15849773,15489334,15461802,15329155,15302935,14970199,14702039,12944485,12477932,12397177,12168954,12019265,11439182,11431691,11344311,10718198,10591208 1599948 57591 NM_020831,AL022238,AL031594,CH471095,AB037859,AF364035,AF368061,AF448806,AJ297257,AJ297258,AL713710,BC021586,BC064620,BC114364,BC115039,BC139730,CR456522 NP_065882,CAI18985,EAW60382,EAW60383,EAW60384,BAA92676,AAK54721,CAC38826,CAC38827,CAD28507,AAI14365,AAI15040,CAG30408,Q29R68,Q969V6,AAI41654,AAI41656,CAK54553,CAK54852 Hs.654688 GDB:11498135 BSAC|MAL|MRTF-A protein-coding 1345947 MKL2 MKL/myocardin-like 2 737633,1580863 14565952,18056415,17947237,17081983,15489334,14702039,12944485,12477932,12397177,12168954,10574462 737633 57496 NM_014048,AC012626,AC040173,AC130650,CH471112,AB033069,AF078853,AK056385,AK057216,AK093577,AK126948,AK127530,AY374297,BC006977,BC016293,BC020644,BC030510,BC034934,BC038834,BC047761,BC050541,BC067270,BC073950,BC127941,BX641041,CR749797 NP_054767,EAW85112,EAW85113,EAW85114,EAW85115,BAA86557,AAD44485,BAC04200,BAC86758,AAQ82435,AAH34934,AAH47761,AAI27942,CAH18657,Q05BP1,Q6ZT37,Q9ULH7,Q9Y6G6 Hs.592047 DKFZp686J1745|FLJ31823|FLJ45623|MRTF-B|NPD001 protein-coding 734391 MKLN1 muskelin 1, intracellular mediator containing kelch motifs Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM] 737629,1580863 17353931,10640805,17467196,15489334,15084145,14702039,12690205,12559565,12477932,11006128,9724633 737629 4289 NM_013255,AC008264,AC009783,AC018642,CH236950,CH471070,AA284481,AA451916,AF047489,AF086386,AK002024,AK025088,AK074367,AL162071,AL705061,AL833458,AW505004,BC002834,BC013938,BC067825,BE778355,BU945366,BX537433,BX538253,CB046426,CR615360 NP_037387,EAL24081,EAW83781,EAW83782,EAW83783,AAF06698,BAA92042,CAB82407,AAH02834,AAH67825,CAD97675,Q7Z3T0,Q9UL63 Hs.44693 GDB:9863039 FLJ11162|TWA2 muskelin protein-coding 1605115 MKNK1 MAP kinase interacting serine/threonine kinase 1 9155018,9878069,17724079,17590453,16763222,16710414,16479008,16162500,15581611,15563472,15516979,15489334,15350534,15234964,15220445,14702039,12477932,11463832,11154262,10978317,10859165,10022874,9468497,9155017,8636128,14499622 8569 NM_003684,NM_198973,AL136373,CH471059,AB000409,AK096423,AK290456,AY355461,BC002755,BX538193,BX648559,CR603808,CR605253 NP_003675,NP_945324,CAI14762,CAI14763,CAI14764,CAI14765,EAX06900,EAX06901,EAX06902,EAX06903,EAX06904,EAX06905,BAA19885,BAF83145,AAQ84219,AAH02755,CAD98062,Q5TC07,Q7Z319,Q9BUB5,ABM83918,ABM87239 Hs.371594 GDB:9955660 MNK1 protein-coding 1313930 MKNK2 MAP kinase interacting serine/threonine kinase 2 1580863 11463832,8415712,16856496,16344560,16216586,15489334,15057824,14702039,12897141,12477932,11154262,11013076,9155017,8889548,16103188,16189514 2872 AL137615,AL513974,BC018345,BC021235,BC073140,BM977403,BU192307,DA950743,NM_017572,AC007136,CH471139,AB209074,AF125532,AF237775,AF237776,AK001730,AK023442,AK024347,AK092536,AK097012,AL137565,NM_199054 CAB70816,AAH18345,AAH73140,Q59GN5,Q9HBH9,Q9NT28,Q9NV89,NP_951009,NP_060042,AAD21217,EAW69422,EAW69423,BAD92311,AAF17226,AAG26336,AAG26337,BAA91866 Hs.515032 GDB:250810 GPRK7|MNK2 protein-coding 1347564 MKRN1 makorin, ring finger protein, 1 The Makorin ring finger protein-1 gene (MKRN1) is a highly transcribed, intron-containing source for a family of intronless mammalian genes encoding a novel class of zinc finger proteins. Phylogenetic analyses indicate that the MKRN1 gene is the ancestral founder of this gene family (Gray et al., 2000 [PubMed 10843807]).[supplied by OMIM] 1580863 15231747,16785614,15489334,12477932,11230166,10843807 23608 NM_013446,AC069335,AF192789,AF192793,CH236950,CH471070,AB209298,AF117233,AF192784,AK024987,AK027137,AK127030,AL136812,AM236048,BC012398,BC025955,BC037400,BC051821,BC064838,BC127216,CR601180,CR605455,CR616519,CR625460 NP_038474,AAF18979,EAL24026,EAW83949,EAW83950,EAW83951,EAW83952,EAW83953,BAD92535,AAF17214,AAF17487,CAB66746,CAJ84705,AAH25955,AAH37400,AAH64838,AAI27217,Q256Y7,Q59G11,Q9UHC7,Q9UHW2,ABM83330,ABW03317 Hs.490347 GDB:10795316 FLJ21334|RNF61 protein-coding 1321625 MKRN2 makorin, ring finger protein, 2 Members of the makorin family, including MKRN2, have a characteristic zinc finger composition that suggests that they are ribonucleoproteins (Gray et al., 2001 [PubMed 11597136]).[supplied by OMIM] 1580863 11597136,15489334,14702039,12477932,11042152 23609 NM_014160,NG_007467,AC018500,AF277170,CH471055,AF302084,AK091318,AL834512,BC001799,BC015715,CR610136,CR626820 NP_054879,AAG27595,EAW64132,EAW64133,AAG30426,CAD39168,AAH01799,AAH15715,Q9H000,ABM82021,ABM85203 Hs.591666 GDB:10795318 HSPC070|RNF62 protein-coding 1322529 MKRN3 makorin, ring finger protein, 3 1580863 10196367,15489334,12477932 7681 U19107,NM_005664,AC126407,CH471151,AW445166,BC044639,BC070293 NP_005655,EAW57608,AAC13989,AAH44639,AAH70293,Q13064,Q6NSB6,ABZ92516 Hs.72964,Hs.679587 GDB:135689 D15S9|MGC88288|RNF63|ZFP127|ZNF127 protein-coding 1349030 MKRN5 makorin, ring finger protein, 5 12477932 400058 NG_004764,AC079598,BC067894 Hs.572212 GDB:135691 MKRN9|RNF65|ZNF127L3 pseudo 1351036 MKRNP1 makorin, ring finger protein, pseudogene 1 7683 NG_000873,AL359740,U41316 GDB:136008 MKRN5P|ZNF-Xq|ZNF127L2 pseudo 1352116 MKRNP2 makorin, ring finger protein, pseudogene 2 23610 NG_002786,AL022721 GDB:11506239 MKRN6P pseudo 1344748 MKRNP3 makorin, ring finger protein, pseudogene 3 7686 NG_001029,AL031686 GDB:135693 MKRN7P|ZNF127L5|dJ981L23.2 pseudo 1347996 MKRNP4 makorin, ring finger protein, pseudogene 4 7685 GDB:135692 1350230 MKRNP5 makorin, ring finger protein, pseudogene 5 1580863 7682 NG_004713,AC092474,U41315 AAA99070,Q13434 GDB:135690 MKRN4|RNF64|ZNF-Xp|ZNF127-Xp|ZNF127L1 pseudo 1352123 MKS1 Meckel syndrome, type 1 18327255,17935508,17437276,17397051,17377820,17185389,16415886,15489334,14702039,12477932,7550354 54903 NM_017777,AC005962,CH471109,AI208274,AK000352,BC010061,CR457229,CR606585,DQ185029 NP_060247,EAW94476,EAW94477,EAW94478,BAA91105,AAH10061,CAG33510,AAZ94714,Q284T0,Q9NXB0 Hs.408843 GDB:681967 FLJ20345|MES|MKS protein-coding 1343445 MKS2 Meckel syndrome, type 2 9758620 26177 GDB:11498097 1346766 MKS3 Meckel syndrome, type 3 12384791 282630 1313806 MKX mohawk homeobox 737633 16408284,16344560,16077953,15489334,12477932,7829101 737633 283078 NM_173576,AC024606,CH471072,AK125339,AW020078,BC036207,DB285243 NP_775847,EAW86052,EAW86053,AAH36207,Q8IYA7 Hs.128193 C10orf48|IFRX|IRXL1|MGC39616 protein-coding 1315192 MLANA melan-A 1580863 8170938,18181974,18097665,18091323,17768347,17719062,17227112,17082590,17050671,16814609,15695812,15618925,15489334,15305155,14663359,12925214,12819038,12477932,12444131,12119345,12072203,11854361,8006593 2315 NM_005511,AL365360,CH471071,BC014423,CR450299,CR613373,CR623651,U06452,U06654 NP_005502,CAI95312,EAW58755,EAW58756,AAH14423,CAG29295,AAA19238,AAA20389,Q16655,Q6ICU4,ABM83183,ABM86385 Hs.154069 GDB:358979 MART-1|MART1 protein-coding 1318392 MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 11254442,17210142,16652334,16470554,16344560,16001658,15992519,15489334,15461802,15037685,14702039,14615938,12939431,12850517,12665801,12497630,12477932,12189496,12168954,12149273,12111645,11935341,11326298,10591208,10376525,7584028,7584026 23209 NM_015166,NM_139202,AL022327,CH471138,AF319633,AK124264,BC010518,BC028425,BC070042,BF513319,CB155740,CR456460,CR607291,CR609767,D25217,DA212966 NP_055981,NP_631941,CAI42687,CAO03521,EAW73490,EAW73491,AAK60119,AAH10518,AAH28425,AAH70042,CAG30346,BAA04947,Q15049,Q6NSL6,Q96FR3,CAK54442,CAK54741 Hs.517729 GDB:9784348 KIAA0027|LVM|MLC|VL protein-coding 1315708 MLF1 myeloid leukemia factor 1 1600902,1580863 12176995,15861129,17967869,17854834,16189514,15489334,15116101,14702039,14506644,12477932,8570204 1600902 4291 NM_022443,AC025033,AC106707,CH471052,AK056948,AK096889,AY848700,AY848701,AY848702,BC007045,BC095437,BX647666,L49054 NP_071888,EAW78685,EAW78686,EAW78687,EAW78688,EAW78689,EAW78690,BAB71320,BAC04885,AAX46015,AAX46016,AAX46017,AAH07045,CAI46058,AAA99997,P58340,Q2TLE3,Q2TLE4,Q2TLE5,Q5HYH4,Q8N8F8,Q96MH1 Hs.85195 GDB:377293 protein-coding 1351502 MLF1IP MLF1 interacting protein The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM] 17595757,17081991,16716197,16622420,16622419,16565220,16287847,15893739,15489334,15116101,15009096,14702039,12941884,12477932,11768657,8889548 79682 NM_024629,AC079257,CH471056,AA761728,AF469667,AF516710,AK027121,AK292297,BC031520,BC067802,BC107744,BC131556,BC141854,BG031878,BQ185248,BX355581,CR457376,CR602653,CR620591,DQ907910,DQ907911 NP_078905,EAX04666,AAQ05290,AAQ08228,BAB15665,BAF84986,AAH31520,AAI07745,AAI31557,AAI41855,CAG33657,ABI49142,ABI49143,Q09GN1,Q09GN2,Q71F23 Hs.481307,Hs.575032 CENP-50|CENP-U|CENP-U(50)|CENP50|CENPU|FLJ23468|KLIP1|PBIP1 protein-coding 1314832 MLF2 myeloid leukemia factor 2 1580863 17353931,8661158,18095154,16565220,15489334,12477932,9110174,8619474 8079 AC125494,CH471116,AF070539,AK289869,BC000898,BC002340,BT019393,BT019432,CR541700,CR590498,CR591577,CR592962,CR594365,CR594751,NM_005439,CR595195,CR597712,CR598086,CR601889,CR604849,CR610405,CR610416,CR612490,CR612884,CR613239,CR614975,CR616586,CR617192,CR620761,CR622171,CR624015,CR624020,CR625356,U57342 NP_005430,EAW88743,EAW88744,AAC28632,BAF82558,AAH00898,AAH02340,AAV38200,AAV38239,CAG46501,AAB08988,Q15773,Q5U0N1 Hs.524214 GDB:732837 NTN4 protein-coding 733729 MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Alternatively spliced transcript variants encoding different isoforms have been described, but their full-length natures have not been determined. 1580863,1625106,1625107,1625108,2293518,2293510,2293517,2293515,2293514,2293509 16403449,16713580,2414623,11427529,11429708,14676842,11809883,11555625,8128251,18481196,18405947,18373977,18364438,18325052,18270339,18265677,18257912,18206974,18205192,18202787,18200512,18199718,18161865,18097574,18094436,18069769,18061181,18056700,18053639,18033691,18005136,17996647,17987798,17973250,17967441,17959715,17939062,17914563,17870204,17786961,17785078,17711772,17690979,17671701,17653898,17652529,17591929,17581638,17573746,17569143,17546041,17545526,17510385,17505997,17498565,17493242,17473388,17465465,17454882,17426439,17417778,17374836,17367211,17348456,17316416,17312306,17276933,17275176,17260015,17230510,17228328,17224235,17219447,17208239,17205513,17203532,17160686,17148452,17135187,17509026,17108146,17095871,17076561,17074586,17011982,16995940,16985024,16984616,16984511,16951290,16951227,16940983,16929514,16908935,16902769,16885385,16874859,16810763,16807412,16803849,16786121,16774946,16773692,17109103,16771955,16756717,16740762,16724696,16724012,16699861,16696788,16684085,16636019,16619216,16569647,16541406,16531764,16474933,16436636,16426918,16395668,16357104,16356174,16353134,16344560,16341550,16329043,16293975,16285940,16237223,16234028,16203774,16189514,16172101,11600610,11579115,11562928,11524701,11474654,11389087,11369138,11343035,11292842,11208710,11158177,11139242,11104559,10928988,10783165,10777691,10713887,10671064,10660333,10627141,10615123,10598809,10480359,10323887,10097147,10037723,9927034,9833759,9831355,9827806,9718327,9611074,9559627,9490293,9399661,11606497,14625810,14574163,14562278,14555508,14529665,14526391,14510941,14508843,14506639,12957287,12939400,12938096,12930688,12920342,12919140,12919137,12817878,12808326,12805408,12799449,12727890,12713560,12712438,12700670,12696065,12684691,12684669,12679904,12660027,12655562,12627520,12627505,12622604,12605036,12592365,12592341,12584560,12529664,12513688,12508345,12496484,12496483,12494471,12477932,12469220,12461746,12419761,12414623,12402334,12384516,12209584,12203784,12177781,12115503,12095971,12023887,12014680,12011151,11999575,11948175,11935297,11920650,11910346,11897781,11895912,11879922,11877377,11872960,11857745,11793469,11793442,11782355,11781295,11748856,11726306,11691925,16143124,16116158,16106253,16086119,16061855,16012876,16003840,15996210,15991064,15958648,15952990,15944788,15923275,15918206,15904475,15870899,15862756,15858146,15855819,15849733,15832775,15831578,15816455,15807307,15786548,15782118,15774782,15769334,15754314,15749592,15735976,15713769,15626886,15613860,15596632,15583832,15583422,15571801,15558497,15520370,15489334,15475387,15467433,15466831,15382050,15375803,15365996,15365995,15342696,15340264,15309712,15309527,15300854,15241839,15240532,15226443,15216397,15200905,15184898,15161053,15159312,15139004,15087450,15083191,15064764,15062061,15043284,14985405,14961575,14871813,14767526,14760534,14726676,14716824,14714570,14688830,14645426,14635101,14632210,14631366,9373149,9326924,9311737,9298827,9272156,9259192,9245993,9218993,9111864,9087566,9067757,9048925,9032648,8993976,8940269,8872463,8797773,8751876,8609062,8571956,8566964,8533151,8145827,8125298,7903889,7812952,7757073,7728749,7705822,7661930,7584997,11470874,11325959,11799067,10748159 1625106,1625107,1625108,2293518,2293510,2293517,2293515,2293514,2293509 4292 NM_000249,NG_007109,AC006583,AC011816,AY217549,AY344475,AY706914,CH471055,U17839,U17840,U17841,U17842,U17843,U17844,U17845,U17846,U17847,U17848,U17849,U17850,U17851,U17852,U17853,U17854,U17855,U17856,U17857,AB209848,AF001359,AK222810,AU127758,AY517558,BC006850,BX648844,CR609870,CR617505,DQ648888,DQ648889,DQ648890,DQ648891,DQ648892,DQ648893,EU188665,EU188666,EU188667,EU188668,EU188669,EU188670,EU188671,EU188672,U40978,EU188673,EU188674,EU188675,EU188676,S77856,U07343,U07418 NP_000240,AAO22994,AAQ23474,AAU21566,EAW64483,EAW64484,EAW64485,AAA85687,AAA82079,BAD93085,AAB58936,BAD96530,AAT44531,AAH06850,ABG49483,ABG49484,ABG49485,ABG49486,ABG49487,ABG49488,ABW69161,ABW69162,ABW69163,ABW69164,ABW69165,ABW69166,ABW69167,ABW69169,ABW69170,ABW69171,ABW69172,AAB34135,AAC50285,AAA17374,O00497,P40692,Q0ZAJ3,Q0ZAJ4,Q0ZAJ5,Q0ZAJ6,Q0ZAJ7,Q0ZAJ8,Q16335,Q53GX1,Q59EG3,Q5GJ64,Q64FK0,Q6VBB8,ABW69168,ABW03705,ABW03363 Hs.195364 GDB:249617 COCA2|FCC2|HNPCC|HNPCC2|MGC5172|hMLH1 mismatch repair protein protein-coding 1319451 MLH3 mutL homolog 3 (E. coli) This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. 1600415,1580863 16981255,16885347,16774946,16344560,16322221,15558497,15193445,12800209,12477932,11586295,11317354,11292842,7596406,12095912,10615123,18364438,17567544,17494052,17482610,17203173 1600415 27030 NM_001040108,AC006530,AF195658,AL049780,AY963685,CH471061,AB039667,AF195657,AL833875,NM_014381,BC012544,BC036866,BC112167,BX090851,DA731365,DA805814,L40399 NP_055196,NP_001035197,AAD30184,AAF23905,AAX59030,EAW81211,EAW81212,EAW81213,EAW81214,EAW81215,BAA92353,AAF23904,CAD38732,AAH36866,AAI12168,AAC42005,Q2M1Z1,Q6PIC9,Q8N3N3,Q9UHC1,Q9Y6S7 Hs.436650 GDB:10795914 HNPCC7|MGC138372 protein-coding 1352072 MLKL mixed lineage kinase domain-like 737633 17353931,15489334,14702039,12477932,12471243,16189514 737633 197259 NM_152649,AC004685,AC109599,CH471114,CQ859712,AK091708,AK093013,AK122998,BC028141,CR595250,CR607857,AL833362 NP_689862,EAW95679,CAH25906,BAC03728,AAH28141,Q5JPC5,Q8NB16,CAI46144 Hs.119878 FLJ34389 protein-coding 1347719 MLL myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 1625285,1580863 12034519,12023017,11943339,11930009,11921290,11809673,11733351,11433529,11259575,11181995,11110714,10995463,10920186,10706619,10648423,10588740,10490642,9694699,9537414,9477123,9129043,8950979,8703835,8506328,8414518,8378076,8361504,8219184,8162575,7794749,7689231,10821850,11313484,15618964,15199122,15640349,18450602,18024407,17957188,17942719,17908926,17905612,17889710,17854671,17763464,17698583,17612494,17597811,17581865,17578910,17550846,17410185,17341662,17280715,17268512,17252016,17205059,17203973,17081983,17047146,16990798,16970032,16878130,16843108,16604156,16565220,16433901,16386788,16357944,16328057,16253272,16193084,16169901,16138344,16138343,16076867,16061630,16029447,15996925,15968309,15815718,15774615,15710585,15670842,15621793,15618957,15592432,15542854,15302935,15221006,15160920,15132992,14999297,14990976,14978793,14751928,14704031,14702039,14636557,14580777,14562113,14551139,14504097,12946992,12829790,12743608,12732503,12696071,12665971,12665591,12660026,12646957,12637319,12618768,12618766,12547160,12482972,12477932,12461747,12393701,12205094,12203795,12192052,12138900,12127405,12124344,12123608,12096348,12095151,7598802,1720549,1423625,1423624,1303259,14607844,14607843,15960975,15960974 1625285 4297 AF036405,NM_005933,AP000941,AP001267,AY373585,CH471065,U04737,X83604,Z69744,AB209508,AF231995,AF231998,AF231999,AF232000,AF232001,AF272370,AF272371,AF272372,AF272378,L01986,L04284,L04731,S66432,S78570,S78571,AF272379,AF272380,AF272381,AF272382,AF422798,AF487905,AF487906,AF512944,AK021845,AY187920,AY187921,AY187942,AY187943,AY187944,AY187945,BC090876,D14540 AAC95283,AAC95284,NP_005924,AAQ63624,EAW67380,EAW67381,EAW67382,EAW67383,EAW67384,EAW67385,AAA18644,CAA58584,CAA93625,BAD92745,AAG26329,AAG26332,AAG26333,AAG26334,AAG26335,AAG31978,AAG31979,AAG31983,BAA03407,AAA92511,AAA58669,AAB28545,AAB34770,AAB34771,Q03164,Q59FF2,Q86YN8,Q86YN9,Q86YP0,Q86YP1,Q8NFI1,Q8NI10,Q8NI11,Q8TD97,Q8TD98,Q9HAE0,AAG31984,AAG31985,AAG31986,AAL17830,AAM14565,AAM14566,AAM82546,BAB13909,AAO38742,AAO38743,AAO38744,AAO38745,Q9HB80,Q9HB81,Q9HB82,Q9HB83,Q9HB87,Q9HB88,Q9HBJ3,Q9HBJ4,Q9UM91,Q9UPD0,Q9Y6P1 Hs.258855,Hs.496666 GDB:128819 ALL-1|CXXC7|FLJ11783|HRX|HTRX1|KMT2A|MLL/GAS7|MLL1A|TRX1 protein-coding 1350607 MLL2 myeloid/lymphoid or mixed-lineage leukemia 2 1580863 9247308,16603732,14992727,17178841,17081983,15302935,15231748,12482968,12477932,10737800,8896557,8595911 8085 NM_003482,AC011603,CH471111,AB209494,AF010403,AF010404,AL359940,AW997729,BC039197,BC040663,BF739070,BF876885,BF993837,BI031059,BX956541,CR749712,X85325,Y08267 NP_003473,EAW58034,EAW58035,EAW58036,BAD92731,AAC51734,AAC51735,AAH39197,CAA69593,O14686,Q59FG6,Q6PIA1,Q99414 Hs.120228 GDB:9954387 AAD10|ALR|CAGL114|MLL4|TNRC21 protein-coding 1347083 MLL3 myeloid/lymphoid or mixed-lineage leukemia 3 This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. 1580863 17353931,17614854,17500065,17081983,16916647,16344560,15365572,15342556,14702039,12853948,12482968,12477932,12168954,11891048,11718452,10819331,9847074,8889548 58508 AC005631,AC006017,AC006474,AC104692,AB040939,AF264750,AK022687,AK025553,AK025911,AK075113,AK095628,AL832387,AL833924,NM_170606,AY024361,BC011921,BC151837,BP281562,BU623509,BU685177,BX640742,CD513584,DA266956 NP_733751,AAD45822,AAS00364,BAA96030,AAF74766,BAB14179,BAC11409,CAD38780,AAK00583,AAI51838,CAE45854,Q6N019,Q75MN6,Q8NEZ4 Hs.647120 GDB:11502402 DKFZp686C08112|FLJ12625|FLJ38309|HALR|KIAA1506|KMT2C|MGC119851|MGC119852|MGC119853 protein-coding 1351736 MLL3P MLL3 pseudogene 387499 1605411 MLL4 myeloid/lymphoid or mixed-lineage leukemia 4 This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. 12477932,10637508,9205841,9171351,10409430,17081983,16713569,15489334,15302935,15231748,15057824 9757 NM_014727,AD000671,AB002302,AF104918,AF105279,AF105280,AF186605,AJ007041,BC007353,BC009337,BC026861 NP_055542,BAA20763,AAD17932,AAD26113,AAD26112,AAD56420,CAB45385,AAH07353,AAH09337,Q9UMN6 Hs.92236,Hs.676457 GDB:9785524 HRX2|KIAA0304|MLL2|TRX2|WBP7 protein-coding 1320090 MLL5 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. 1580863 18231586,14718661,14702039,12477932,12101424,11597142,9218106,7672722 55904 NM_182931,NM_018682,AC005065,AC005070,AC007384,CH236947,CH471070,AY195568,AY195569,AY211525,AY222296,AY234382,AF067804,AF519459,AK000940,AK024088,AY113691,AY147037,AY157990,AY438698,AY438699,BC001296,BC009061,BC016382,BC024658,BC040004,BC040848,BC053906,BC062583,BC142987 NP_891847,NP_061152,AAD04721,EAW83355,AAO47009,AAO47010,AAO86416,AAO64395,EAW83356,EAW83357,EAW83358,AAF75564,AAM74947,BAA91435,BAB14821,AAN17675,AAN76325,AAO89072,AAR13893,AAR13894,AAH01296,AAH40004,AAH53906,AAH62583,AAI42988,O95038,Q6P5Y2,Q6PKG4,Q6T316,Q86TI3,Q86W12,Q86W16,Q86WG0,Q86WL2,Q8IV78,Q8IWR5,Q8IZD2,Q8NFF8,Q9H802,Q9NS29,Q9NWE7 Hs.592262 GDB:11508417 FLJ10078|FLJ14026|HDCMC04P|KMT2E|MGC70452 protein-coding 1345161 MLLT1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 1580863 7991593,8080983,17252016,17081983,16433901,12665591,12477932,11313972,10995463,8378076,1423624 4298 NM_005934,AC011471,CH471139,AL365410,BC047008,BC063667,BC084564,CR594829,CR598170,D14539,L04285 NP_005925,CAB96954,EAW69106,BAA03406,AAA58457,Q03111,Q9NPS2,AAI46319,AAI46386,AAI48807 Hs.705366 GDB:136791 ENL|LTG19|YEATS1 protein-coding 1322026 MLLT10 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 1598771,1580863 7888665,17868029,15851025,15164054,14702039,12482966,12477932,12453419,12127405,11774384,11756182,11423977,10997963,10860745,9737689,12750376 1598771 8028 NM_001009569,AL161799,AL357372,AL358780,AL359697,CH471072,NM_004641,AB209755,AF060929,AF060934,AF060935,AF060938,AK128264,AL137295,AY598745,BC032532,BC052798,BC065376,BC080577,BC094844,BC129946,BX640774,BX648210,CR591323,CR600207,U13948 NP_004632,NP_001009569,CAI39663,CAI39664,CAI39665,CAI39667,CAI39668,CAI41348,CAI41349,CAI41350,CAI41351,CAI13979,CAI13980,CAI13982,CAI13983,CAI13985,CAH73410,CAH73411,EAW86161,EAW86162,EAW86164,EAW86165,BAD92992,AAC16701,AAC16706,AAC16707,AAC16710,AAT47519,AAH80577,EAW86163,CAE45872,CAI46260,AAA79972,O60696,O60699,P55197,Q59EQ6,Q5HYC6,Q5JT34,Q5JT35,Q5T4I2,Q5VX90,Q6N002,Q71UR7,AAI56207,AAI56950 Hs.30385 GDB:9954451 AF10|DKFZp686E10210|MGC75086 protein-coding 1349701 MLLT10L myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10-like 140678 AL441988 GDB:11506241 1605692 MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. 16710414,15530661,15489334,14702039,12477932,7833468 10962 NM_006818,AL590133,CH471121,AK056089,AK057755,BC006471,BC007079,BC008445,BC009624,BC019253,BC021703,BC022448,BC032996,BT006799,CR456879,CR542150,CR593527,CR599332,CR600823,CR602062,CR603022,CR604725,CR604855,CR606316,CR608615,CR608900,CR612384,CR614314,U16954 NP_006809,CAI13350,EAW53476,AAH06471,AAH08445,AAH09624,AAH19253,AAH21703,AAH22448,AAP35445,CAG33160,CAG46947,AAA70088,Q13015,Q6FGF7,ABM82355,ABM85530 Hs.75823 AF1Q|RP11-316M1.10 protein-coding 737507 MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 1580863 8506309,17581865,16328057,16189514,15381384,14603337,12776190,12477932,11439343,11313972,10898795,9373149,8414510,8125298 4300 NM_004529,AL163193,AL354879,AL512635,AL513498,AL627410,CH471071,AK225957,BC030550,BC036089,BX649194,D16688,L13744 NP_004520,EAW58630,EAW58631,EAW58632,AAH36089,CAE46213,BAA04090,AAA58361,P42568,Q5VV07,Q5VV08,Q5VV09,Q6MZE2,Q8IVB0,Q6LEQ8 Hs.591085 GDB:138172 AF9|FLJ2035|YEATS3 myeloid/lymphoid or mixed-lineage leukemia (trithorax (drosophila) homolog); translocated to, 3 protein-coding 731514 MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 AF6 is a Ras (see HRAS; MIM 190020) target that regulates cell-cell adhesions downstream of Ras activation. It is fused with MLL (MIM 159555) in leukemias caused by t(6;11) translocations (Taya et al., 1998 [PubMed 9722616]).[supplied by OMIM] 1580863 10382971,10856295,8242616,18052198,17967423,17491594,17081983,17013812,16964243,16819513,16051602,15684424,15302935,15144186,14702039,14574404,12808105,12590145,12477932,12456712,12446711,12067721,11956217,11907041,11788587,11544254,11024295,10922060,10744716,10733589,10617658,10583506,10545207,10446149,10334923,10225955,10224125,10085297,9722616,9707552,9679199,9349501,9334353,8889548,8589040,17353931,10521485 4301 NM_001040001,NM_001040000,NM_005936,AB011399,AL009178,AL049698,AL731868,CH471051,E13503,AB209420,AF085836,AK055689,AK091815,AL161973,BC014505,BF732725,BQ646972,BX649158,CA503365,U02478 NP_001035090,NP_001035089,NP_005927,BAA32483,BAA32484,BAA32485,CAI20900,CAI20901,CAI20902,CAI20903,CAI20904,CAI42812,CAI42813,CAI42814,CAI42815,CAI42816,CAI40824,CAI40825,CAI40826,CAI40827,CAI40828,CAI40829,CAI40830,EAW47480,EAW47481,EAW47482,EAW47483,EAW47484,EAW47485,EAW47486,BAD92657,CAB82312,AAH14505,AAC50059,P55196,Q59FP0,Q5JPV5,Q5TIG5,Q5TIG7,Q96C95,Q9UM08,AAI56049,AAI56935 Hs.644024,Hs.709178 GDB:266543 AF-6|AF6|AFADIN|FLJ34371|RP3-431P23.3 afadin protein-coding 1315450 MLLT6 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 1580863 16713569,8058765,14702039,12477932,16189514,15588942 4302 NM_005937,AC006449,CH471152,AB209633,AF075118,AK027133,AK057058,AK092893,AL133659,AL832481,BC007237,BC007859,BC064612,BX648298,U07932 NP_005928,EAW60521,EAW60522,EAW60523,EAW60524,BAD92870,BAB15670,CAB63772,AAH07237,AAH07859,AAH64612,AAA21145,P55198,Q59F28,Q6P2C6,Q96I32,Q96IU3,Q9H5F6 Hs.91531 GDB:385409 AF17|FLJ23480 protein-coding 1347043 MLN motilin This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produces the mature peptide and a byproduct referred to as motilin-associated peptide (MAP). Two transcript variants encoding different preproprotein isoforms but the same mature peptide have been found for this gene. 1580863 10381885,18358279,18234640,17595255,15489334,15340161,12732349,12477932,12054506,11461914,11259768,7989042,6194039,3666144,2914635,2737284,2574660 4295 NM_002418,NM_001040109,AL138889,AL158049,CH471081,M30277,M30278,M30279,M30280,M30281,X15392,X15393,X15394,X15395,X15396,AW014210,BC069675,BC112314,Y00695 NP_002409,NP_001035198,CAI21526,EAX03752,EAX03753,AAA59860,CAA33448,AAH69675,AAI12315,CAA68690,P12872,Q2M1L2,Q5T975 Hs.2813 GDB:120187 MGC138519 protein-coding 1354387 MLNR motilin receptor 1580863 10381885,16531413,15057823,12606621,12054506,11461914,11322507,11259768,10644557,9441746 2862 NM_001507,AF034632,AL137000,CH471075,AY603964 NP_001498,AAC26081,CAC19107,EAX08813,AAT35806,O43193,AAI48476 Hs.248126 GPR38|MTLR1 protein-coding 1321808 MLPH melanophilin This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. 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. 1580863 16415175,15517821,15489334,15117313,14730011,14702039,12975309,12897212,12603861,12531900,12477932,12221080,12189142,12062444,11980908,11856727,11504925,9373149,8125298,15059972,11773082,12006666,16189514 79083 NM_024101,NM_001042467,NG_007286,AC104667,AC112721,CH471063,AK022207,AK056867,AK094168,AK225381,AK292929,AY358857,BC001653,BC051269,BM272410,BM992819,CR597608 NP_077006,NP_001035932,AAY24045,AAY24136,EAW71112,EAW71113,EAW71114,EAW71115,EAW71116,BAB13984,BAF85618,AAQ89216,AAH01653,AAH51269,Q53QF3,Q53QV8,Q6UWC1,Q9BV36 Hs.102406 MGC2771|MGC59733|SLAC2-A protein-coding 1345641 MLPL1 MARCKS-like protein-like 1 4305 GDB:1230436 1353795 MLS microphthalamia with linear skin defects 8364577 4307 GDB:262123 1344680 MLSTD1 male sterility domain containing 1 737633 15489334,15220349,15220348,14702039,12477932,11230166 737633 55711 NM_018099,AC009318,AC012150,CH471094,AK001324,AK001927,AK027756,AK129857,AL136843,BC022267,CR607516 NP_060569,EAW96586,EAW96587,BAA91625,BAA91983,BAB55347,CAB66777,AAH22267,Q96K12,Q9NUX8 Hs.298851 FAR2|FLJ10462 protein-coding 1315381 MLSTD2 male sterility domain containing 2 737633 17353931,16396496,15489334,15220349,15220348,14702039,12975309,12477932 737633 84188 NM_032228,AC013828,AC026843,CH471064,AF086349,AK024967,AK026381,AK090880,AL713674,AY358784,AY423606,AY600449,BC017377,BX648892,CR611981,CR936619 NP_115604,EAW68491,EAW68492,EAW68493,BAB15467,AAQ89144,AAR84086,AAT42129,AAH17377,CAI56762,Q8WVX9,Q9H600 Hs.501991 DKFZp686A0370|DKFZp686P18247|FAR1|FLJ22728|FLJ33561 protein-coding 1344252 MLVI2 Moloney murine leukemia virus (MoMuLV) integration site 2 homolog 2793187 4309 GDB:120189 1602902 MLX MAX-like protein X The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. 11230181,10918583,16782875,15664996,15489334,14702039,12477932,12446771,10593926,8973301,8889549,8889548,7490091,15163635,11073985,16189514 6945 NM_170607,NM_198204,NM_198205,AC067852,CH471152,U34879,AA024982,AB209235,AF203978,AF213666,AF213667,AF213668,AK000150,AK290258,BC010689,BC014537,BE907687,BI517590,BQ186038,BT009812,CR590342,CR606467 NP_733752,NP_937847,NP_937848,EAW60841,EAW60842,EAW60843,EAW60844,EAW60845,BAD92472,AAF14638,AAG40145,AAG40146,AAG40147,BAA90977,BAF82947,AAH10689,AAP88814,Q59G74,Q9UH92 Hs.383019,Hs.706821 GDB:7075973 MAD7|MXD7|TCFL4 protein-coding 1602332 MLXIP MLX interacting protein MONDOA forms heterodimers with MLX (MIM 602976) that can bind to and activate transcription from CACGTG E boxes (Billin et al., 2000 [PubMed 11073985]).[supplied by OMIM] 12826659,12477932,12446771,11073985,10048485,16189514,16782875 22877 NM_014938,AC130894,CH471054,AB020674,AF245480,AF245481,AF312918,BC017656,BC028309,BC039704,BC069272,BC151841 NP_055753,EAW98304,EAW98305,EAW98306,BAA74890,AAL55689,AAL55690,AAG34121,AAH17656,AAH28309,AAH39704,AAI51842,Q9HAP2 Hs.437153 KIAA0867|MIR|MONDOA protein-coding 1343873 MLXIPL MLX interacting protein-like This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. 634534,1580599,1580863 11230181,10780788,9860302,12721358,18193046,18193044,18193043,16644671,15489334,15163635,14759258,14702039,12477932,11724780,11698644 634534,1580599 51085 NM_032951,NM_032952,NM_032953,NM_032954,AC005089,AF156673,CH471200,AF056184,AF156603,AF245470,AF245471,AF245472,AF245473,AF245474,AK055029,BC012925 NP_116569,NP_116570,NP_116571,NP_116572,AAF68176,EAW69660,EAW69661,EAW69663,EAW69668,AAD28084,AAF68174,AAK20935,AAK20936,AAK20937,AAK20938,AAK20939,AAH12925,Q9NP71 Hs.647055 GDB:10795975 CHREBP|MIO|MONDOB|WBSCR14|WS-bHLH protein-coding 731588 MLYCD malonyl-CoA decarboxylase The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. 1600798,1300048,1580863 9869665,10417274,10455107,17186413,17081983,16434556,16386195,15489334,15206948,15003260,14702039,12955715,12477932 1600798 23417 NM_012213,AC009119,CH471114,AF090834,AF097832,AF153679,AK094095,BC000286,BC052592,CR626099 NP_036345,EAW95513,AAD48994,AAD16177,AAD34631,AAH00286,AAH52592,O95822 Hs.644610 GDB:11500940 MCD|MGC59795 protein-coding 1319081 MLZE melanoma-derived leucine zipper, extra-nuclear factor 1580863 11223543,16344560,15489334,12477932 56169 NM_031415,AC022849,CH471060,AB042405,AJ245876,BC035321,BC063595,DA437012 NP_113603,EAW92124,BAB40331,CAC21571,AAH35321,AAH63595,Q9BYG8,Q9H1C8 Hs.133244 GDB:10796499 GSDMC protein-coding 1312825 MMAA methylmalonic aciduria (cobalamin deficiency) cblA type The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. 1580863,1600803 17597648,16641088,15523652,15489334,15308131,12477932,12438653 1600803 166785 NM_172250,NG_007536,AC093864,AF524841,AF524846,CH471056,AK126662,BC101178,BC101179,BC101180,BC101181,CR606328,CR619215 NP_758454,AAN77287,EAX05036,AAI01179,AAI01180,AAI01181,AAI01182,Q495G5,Q495G6,Q8IVH4 Hs.452864 MGC120010|MGC120011|MGC120012|MGC120013 methylmalonic aciduria (cobalamin deficiency) type a protein-coding 1347796 MMAB methylmalonic aciduria (cobalamin deficiency) cblB type This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. 1600420 17597648,17410422,16344560,15781192,15489334,15347655,12514191,12477932,12471062,7829101,18193043 1600420 326625 NM_052845,NG_007096,NG_007702,AC007570,AF550404,CH471054,BC005054,BC011831,BI497024,CR593756,CR598678,CR609621,CR614327,CR615060,CR619514,CR619543,DA718661 NP_443077,AAN85091,EAW97869,AAH05054,AAH11831,Q96EY8 Hs.12106 ATR|MGC20496 methylmalonic aciduria (cobalamin deficiency) type b protein-coding 1601765 MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 18164228,17431913,16710414,16311595,15489334,12477932 25974 NM_015506,AL451136,CH471059,AK098537,AL080062,BC006122,BM980565,BU632364,BU839693 NP_056321,CAI13094,EAX06983,CAB45693,AAH06122,Q9Y4U1 Hs.13024 DKFZp564I122|FLJ25671|RP11-291L19.3 protein-coding 1346726 MMD monocyte to macrophage differentiation-associated This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. 1580863 7503749,16044242,15489334,12477932 23531 NM_012329,AC006269,AC007638,CH471109,AY424289,BC026324,BI546449,CR541893,N40480,X85750 NP_036461,EAW94541,EAW94542,AAR08377,AAH26324,CAG46691,CAA59752,Q15546,ABM83288,ABM86495 Hs.463483,Hs.656753 GDB:1313724 MMA|PAQR11 protein-coding 1315160 MMD2 monocyte to macrophage differentiation-associated 2 737633,1580863 16044242,15489334,14702039,12477932 737633 221938 NM_001100600,NM_198403,AC053546,AC092032,CH471144,AK094524,AY424288,BC024012,BC037881,BC048346,BC067905,CR598494 NP_001094070,NP_940685,EAW87305,EAW87306,EAW87307,EAW87308,AAR08376,AAH37881,AAH67905,Q8IY49 Hs.558694 FLJ37205|PAQR10 protein-coding 737353 MME membrane metallo-endopeptidase This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. 1581742,1581931,1600817,1600813,1600811,1580863 1660144,17220478,17342744,2521388,18393807,18370954,18182043,18092952,18042078,17928142,17906676,17885484,17876294,17712175,17662271,17591969,17363457,17335564,17296585,17294442,17101991,16984256,16948517,16943769,16940054,16900384,16900210,16877296,16857799,16722930,16700740,16652149,16400325,16344560,16226260,16123216,15945081,15870909,15860464,15785408,15720419,15578072,15548496,15502805,15489334,15469471,15464186,15286660,15283675,15217945,15205682,15100223,14968440,14767532,14749444,14747736,14739539,14673956,14550292,12785004,12754519,12754344,12657655,12529960,12527400,12485446,12477932,12447961,12393702,12387451,12203213,12150966,12140380,12105192,12102663,12087466,12070597,11906289,11849775,11367540,11170145,11140838,11104793,10669592,9659899,9313778,15294904,9247159,9232196,8943850,8687431,8631021,8168535,8003005,7532408,3162217,3157879,2994530,2984462,2972276,2971756,2968607,2736261,2612455,2531377,2528730,2521237,2417254,2201681,15668537 1581742,1581931,1600817,1600813,1600811 4311 NM_007287,NM_007288,NM_007289,AC106724,AC117384,CH471052,EU326307,M26605,M26606,M26607,M26608,M26609,M26610,M26611,M26612,NM_000902,M26613,M26614,M26615,M26616,M26617,M26618,M26619,M26620,M26621,M26622,M26623,M26624,M26625,M26626,M26627,M26628,X79438,AK291761,BC101632,BC101658,BC106070,BM151602,BP418894,BX647134,DA574242,DB142029,J03779,X07166,Y00811 NP_000893,NP_009218,NP_009219,NP_009220,EAW78753,EAW78754,EAW78755,EAW78756,EAW78757,EAW78758,ACA05913,ACA05914,AAA52294,BAF84450,AAI01633,AAI01659,AAI06071,AAA51915,CAA30157,CAA68752,P08473,Q3KQS6 Hs.307734 GDB:120190 CALLA|CD10|DKFZp686O16152|MGC126681|MGC126707|NEP membrane metallo endopeptidase protein-coding 1603610 MMEL1 membrane metallo-endopeptidase-like 1 The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. 16710414,15489334,15121861,14702039,12477932,11560781,10542292 79258 BC101029,BC101030,NM_033467,AL589746,AL831784,AX033274,CH471183,AF336981,AK093058,BC101027,BC101028 AAI01029,AAI01030,AAI01031,Q495T6,NP_258428,CAC09978,EAW56080,EAW56081,EAW56082,AAL08942,AAI01028 Hs.591453 MGC119454|MGC119455|MGC119456|MMEL2|NEPII|NL1|NL2|SEP protein-coding 1317388 MMP1 matrix metallopeptidase 1 (interstitial collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes a secreted enzyme which breaks down the interstitial collagens, types I, II, and III. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1581215,1582543,1580553,1582530,1582532,1582537,1582525,1582539,1582361,1582538,1582365,1582527,1582519,1582522,1582536,1582520,1582524,1582535,1582540,1582541,1582542,1580863 18480665,18439317,18426080,18366705,18276095,18261580,18259971,18212480,18178580,18164995,18097620,18089791,18060744,18035073,18030675,18028894,18027871,18025848,18025061,18006830,18006768,17996495,17990358,17986285,17980449,17980059,17949787,17921324,17919326,17901377,17893005,17765638,17714581,17709546,17697361,17663001,17625450,17611984,17607721,17599818,17589947,17564313,17558677,17543340,17537400,17508023,17502998,17488873,17475625,17473191,17441888,17434489,17429393,17383306,17373931,17363767,17363400,17352267,17339606,17335808,2167156,18483334,17311017,17303772,17316652,17245132,17178858,17151781,17145822,17125518,17109104,17077200,17050530,17035633,17033924,17009408,17000679,16990034,16972994,16972255,16967187,16945025,16937230,16921115,16921111,16912186,16899023,15288468,15288123,15274394,15257748,15200479,15194213,15184373,15182858,15149160,15142265,15127970,14986114,14982353,14962105,14764579,14730602,14729059,14707454,14707126,14705229,14692651,14679206,14669348,14659851,14626631,14581488,14558091,14550952,14550555,14515149,14512169,14499230,13129650,12969782,12960156,12949792,12904296,12880418,16890240,16877347,16850107,16807369,16774538,16767840,16767672,16739355,16714289,16681691,16676616,16638593,16623785,16580524,16569638,16538639,16532917,16453302,16424284,16410344,16405530,16386110,16359987,16356191,16353148,16321971,16311244,16302919,16301860,16288711,16278291,16278009,16273295,16267613,16256416,16214204,16213873,16210545,16210018,16202315,16168111,16128620,16103692,16098031,16080875,16076963,15965045,15957163,15955221,15944607,15939478,15930517,15879464,15866608,15864312,15855654,15832405,15818737,15817699,15804950,15767330,15754326,15737206,15728253,15718477,15707890,15701845,15688379,15661214,15654971,15654517,15638833,15617836,15612581,15611040,15610507,15534109,15528217,15499569,15489334,15476622,15467742,15459390,15383690,15375490,15350133,15337261,15319295,15312099,15308634,15291299,12873541,12861139,12845675,12837283,12788533,12787920,12784383,12767235,12706853,12692352,12676763,12672023,12667140,12651627,12622858,12572877,12528113,12517806,12515907,12477932,12473595,12432557,12393408,12364729,12229968,12225803,12177784,12149192,12145314,12071839,12060661,12054629,12054564,12050187,12034345,12032154,12009332,12005449,11934016,11918701,11875051,9484219,9373149,9063449,8921407,8609233,8278810,8226919,8216228,8125298,8090713,8031754,8027075,7998967,7896811,7656013,7641497,7523391,3037355,3032950,3030290,3027129,3009463,2557822,1645757,1311327,15972662,14982725,16189514,11831026,11824952,11779859,11762702,11751876,11705862,11691799,11598182,11586041,11546917,11528521,11489811,11485914,11381077,11359786,11359774,10986281,10947989,10922468,10706100,10419448,10224132,9737711,9688535,9558113,11836255 1581215,1582543,1580553,1582530,1582532,1582537,1582525,1582539,1582361,1582538,1582365,1582527,1582519,1582522,1582536,1582520,1582524,1582535,1582540,1582541,1582542 4312 NM_002421,AJ002550,AP000619,AY769434,CH471065,M16567,U78045,AK024818,AK098450,AK130687,AK223034,AK223035,AK223036,AK223056,AK223281,AK225495,BC013118,BC013875,BT006874,BT020147,M13509,M15996,X05231,X54925 NP_002412,AAV28732,EAW67031,AAA52033,AAB36941,BAD96754,BAD96755,BAD96756,BAD96776,BAD97001,AAH13118,AAH13875,AAP35520,AAV38949,AAA35699,AAA35700,CAA28858,CAA38691,P03956,Q53FK3,Q53G75,Q53G95,Q53G96,Q53G97,Q5TZP0,Q96DZ4,ABM81655,ABM84830 Hs.83169 GDB:119783 CLG|CLGN matrix metalloproteinase 1 (interstitial collagenase) protein-coding 1347586 MMP10 matrix metallopeptidase 10 (stromelysin 2) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans and fibronectin. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1580863 2844164,18035073,17695449,17543340,17009259,16580524,16516860,16331256,16054593,15944607,15489334,15375490,15371548,15288123,15095982,12477932,10986281,10472874,10419448,9662124,9578462,9427548,9373149,9261109,9042108,8921407,8631328,8349617,8144618,8125298,8003069,7694569,7632822,2605216,2369069,1874716 4319 NM_002425,AP000619,AY744675,CH471065,M30461,AK222601,BC002591,BT007442,X07820 ABM82857,ABM86044,NP_002416,AAU21039,EAW67029,AAO65617,BAD96321,AAH02591,AAP36110,CAA30679,P09238,Q53HH9 Hs.2258 GDB:120392 SL-2|STMY2 matrix metalloproteinase 10 (stromelysin 2) protein-coding 735298 MMP11 matrix metallopeptidase 11 (stromelysin 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. 1580863 7746327,1701851,18208802,18172255,17980449,17543340,17233884,17181997,17085465,16303743,15989693,15788677,15582574,15509588,15489334,15459498,12845673,7657606,7523394,1639418,10419448,12538453,12477932,12429794,12006591,11857311,11280785 4320 NM_005940,AP000349,AY899208,CH471095,X84664,AK075448,AK125911,AK129792,BC057788,CR602252,CR612686,CR624369,CR626443,DQ399599,X57766 NP_005931,AAW65373,EAW59603,EAW59604,CAA59150,AAH57788,ABD92798,CAA40918,P24347,Q71RC1 Hs.143751 GDB:128630 SL-3|ST3|STMY3 matrix metalloproteinase 11 protein-coding 1350336 MMP12 matrix metallopeptidase 12 (macrophage elastase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1582352,1582363,1582365,1582355,1582356,1582358,1582366,1582361,1582354,1582351,1580863 18155181,11575929,11575928,11546917,11241738,10949161,10930399,10859319,10801980,10737800,10419448,10187779,9115292,8921407,7782320,18052707,18006768,18001704,18001475,17997411,17727250,17706587,17607721,17574772,17473191,17373931,17300109,17182940,17178873,17178858,17000679,16912171,16676616,16481329,16359550,16311244,16166618,16082623,15989693,15987457,15983040,15944607,15802269,15781250,15723202,15709175,15654955,15489334,15474460,12858542,12742660,12477932,12195704,12103254,11875051,18091353,8226919,18324629,18308831,18259971 1582352,1582363,1582365,1582355,1582356,1582358,1582366,1582361,1582354,1582351 4321 AP000789,AY856072,CH471065,U25346,U78045,AI343504,AW172994,BC112301,BE440047,BE813419,CR594246,CR603756,L23808,NM_002426 NP_002417,AAW29944,EAW67033,AAB06314,AAB36943,AAI12302,AAA58658,P39900,Q13165,Q99745 Hs.1695 GDB:266582 HME|MGC138506|MME matrix metalloproteinase 12 (macrophage elastase) protein-coding 1343267 MMP13 matrix metallopeptidase 13 (collagenase 3) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1580157,1582556,1582549,1582551,1582554,1582576,1582544,1582545,1582548,1580863 17196980,17151781,17138534,17116693,17076612,17033924,17009260,16984617,16948116,16917496,16877349,16648633,16507124,16398406,16356191,16331612,16144844,16024014,15947272,15944607,15763932,15693018,15654517,15640153,15551360,15489334,15067375,14558091,12974393,12878172,12814616,12734180,12477932,12426321,12392760,12270924,12192005,12149192,12139441,12009332,12009331,11903048,11883937,11108860,11032846,10986281,10949161,10947989,10930399,10788434,10514495,10419448,10074939,9562863,9373149,9119388,9065415,8969305,8663255,8125298,7607691,8609233,8207000,18373849,18366705,18308831,18289056,18225566,18091353,18006768,17905570,17876296,17853491,17822788,17786186,17724016,17697361,17626252,17623656,17607721,17495113,17395008,17373931,17373717,17311929,17300926,17208315 1580157,1582556,1582549,1582551,1582554,1582576,1582544,1582545,1582548 4322 AP000789,AP001486,AY741163,CH471065,X81640,AK222748,AK292211,AY256443,AY256444,BC067522,BC067523,BC074807,BC074808,X75308,X81334,NM_002427 NP_002418,AAU13907,EAW67034,EAW67035,CAA57296,BAD96468,BAF84900,AAP78939,AAP78940,AAH67522,AAH67523,AAH74807,AAH74808,CAA53056,CAA57108,P45452,Q53H33,Q6LBE5,Q6NWN6,Q7Z5M0,Q7Z5M1 Hs.2936 GDB:373966 CLG3 matrix metalloproteinase 13 (collagenase 3) protein-coding 734118 MMP14 matrix metallopeptidase 14 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. 1582586,1582578,1582583,1582581,1582351,1582577,1582590,1582579,1582568,1582569,1582575,1582563,1582576,1582580,1582584,1582570,1582588,1580863 8015608,14718544,18368597,18267120,18164686,18045645,17938169,17928399,17886098,17670887,17668281,17650075,17640303,17618273,17591781,17525276,17475671,17425593,17332756,17329256,17283058,17219425,17189319,17175151,17153464,17140440,17099140,17081065,17050733,17050542,16983145,16971509,16956391,16877349,16776850,16686598,16636666,16627478,16551853,16551362,16525718,16525713,16473349,16461815,16281052,16234249,16219679,16140936,16077081,15967115,15911696,15901740,15882863,15878869,15841326,15831939,15756447,15743799,15665118,15632106,15558018,15554353,15528467,15525652,15516694,15489334,15466865,15466200,15450852,15381707,15381670,15351710,15350133,15276180,15260832,15247230,14729679,14707454,14673954,14670950,14645246,14597417,14583471,12904296,12879005,12869573,12810672,12727228,12672023,12661033,12587534,12488433,12477932,12473650,12464176,12427871,12393408,12372458,12220632,12194986,12185585,12169394,12149192,12145196,12115722,12054629,12004057,11970960,11928813,11920503,11917104,11911461,11854269,11844598,11839588,11809713,11773076,11751414,16425263,16419154,11741954,11448964,11382769,11178970,10949161,10930399,10922468,10721699,10529239,10419448,9724659,9688535,9461298,9422789,9119382,8804434,8706726,8663332,8663255,8530054,8216228,7998967,7721107,7708715,7649159,10947989 1582586,1582578,1582583,1582581,1582351,1582577,1582590,1582579,1582568,1582569,1582575,1582563,1582576,1582580,1582584,1582570,1582588 4323 AB011056,AF158733,AL135998,AY795074,CH471078,AK291325,BC039581,BC064803,D26512,U41078,X83535,X90925,Z48481,NM_004995 NP_004986,BAC53889,AAF24178,AAV40837,EAW66236,EAW66237,BAF84014,AAH64803,BAA05519,AAA83770,CAA58519,CAA62432,CAA88372,P50281,Q8IXG1,Q9UHK5 Hs.2399 GDB:375731 MMP-X1|MT1-MMP|MTMMP1 matrix metalloproteinase 14, membrane-inserted protein-coding 1318995 MMP15 matrix metallopeptidase 15 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. 1580863 7559440,7649159,15248212,16983145,16825197,15489334,14645246,12661033,12477932,11824946,10949161,10419448,9461298,9119382,9070935 4324 NM_002428,AC012182,CH471092,EF032329,AW161057,BC006412,BC036495,BC055428,BF507560,BT006715,CR596713,CR625537,D85510,D86331,Z48482 NP_002419,EAW82965,EAW82966,ABJ53423,AAH36495,AAH55428,AAP35361,BAA22225,BAA13071,CAA88373,P51511,Q7KZY0 Hs.80343 GDB:642246 MT2-MMP|MTMMP2|SMCP-2 matrix metalloproteinase 15 (membrane-inserted) protein-coding 735917 MMP16 matrix metallopeptidase 16 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene produces at least two transcripts, one which encodes a membrane-bound form and another a soluble form of the protein. Both forms of the protein activate MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. 7559440,17419254,17217338,16983145,16344560,15489334,15044209,14741217,14645246,12879005,12661033,12477932,11278606,10949161,10419448,9396633,9119382,9110174,9092507,9070935,8619474,15380516 4325 NM_005941,NM_022564,AC037450,AC090575,AC090797,AC090980,CH471060,DQ003082,AB009303,AL832595,BC069500,BC075004,BC075005,D83646,D83647,D85511,DA575789,DR002176,U79292 NP_005932,NP_072086,EAW91651,EAW91652,AAX84515,BAA23742,AAH69500,AAH75004,AAH75005,BAA12022,BAA12023,BAA22226,P51512 Hs.546267 GDB:686249 MMP-X2|MT-MMP2|MT-MMP3|MT3-MMP matrix metalloproteinase 16 protein-coding 1323053 MMP17 matrix metallopeptidase 17 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene is considered a member of the membrane-type MMP (MT-MMP) subfamily. However, this protein is unique among the MT-MMP's in that it is a GPI-anchored protein rather than a transmembrane protein. The protein activates MMP-2 by cleavage. 1580863 8640782,16686598,14701864,14645246,12962706,12661033,12477932,10949161,10799478,10640822,10567400,10551873,10543448,10471807,10419448,9878265 4326 NM_016155,AC131009,CH471054,AB021225,BC040507,BC045610,BX389435,CA489162,X89576 NP_057239,EAW98528,BAA82707,AAH40507,AAH45610,CAA61753,Q5U5M0,Q8IWC3,Q9ULZ9 Hs.159581 GDB:1316722 MT4-MMP matrix metalloproteinase 17 (membrane-inserted) protein-coding 1322803 MMP19 matrix metallopeptidase 19 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This protein is expressed in human epidermis and it has a role in cellular proliferation as well as migration and adhesion to type I collagen. Multiple transcript variants encoding distict isoforms have been identified for this gene. 1642023,1642025,1642022 9020145,10809722,18161657,17980449,17195013,15868410,15489334,15239678,12937269,12516088,12477932,12054629,11801661,10949161,10922468,10903435,10419448,10415718,9688535,9562866,9373149,9232430,8920941,8216228,8125298,7998967 1642023,1642025,1642022 4327 U38322,U38431,X92521,Y08622,NM_002429,AC023055,AY706993,CH471054,U89651,AK225939,AL545199,BC030206,BC050368,BI761698,CR620332,U37791,U38320,U38321 AAB63009,AAC99995,CAA63299,CAA69913,O15277,Q99542,NP_002420,AAT97983,EAW96844,EAW96845,AAH50368,AAC51521,AAB63007,AAB63008 Hs.591033 GDB:5987199 MMP18|RASI-1 matrix metalloproteinase 19 protein-coding 730821 MMP2 matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades type IV collagen, the major structural component of basement membranes. The enzyme plays a role in endometrial menstrual breakdown, regulation of vascularization and the inflammatory response. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. 1582576,1582586,1582614,1582621,1581215,1582563,1582580,1582624,1582578,1582583,1582562,1582579,1582582,1582590,1582630,1582626,1582646,1582570,1582577,1582612,1582568,1582575,1582585,1582574,1582587,1582608,1302333,1582617,1582352,1582627,1580863,1601416,1642040,2290395,2290349,1302825,2290351,2290352,2290362,2290399,2290401,2290392,2290466,2290359,2290360,2290363,2290358,2290402,2290467 2834383,15146192,18469019,18455130,18424416,18398039,18366007,18359774,18340378,18332090,18308831,18288718,18283635,18256065,18253117,18251742,18220784,18217401,18214299,18210196,18208802,18205826,18187184,18182154,18177649,18177474,18166633,18160708,18155181,18091353,18081721,18070420,18063683,18052707,18049448,18045645,18042068,18038907,18035727,18035073,18031543,18025061,18000234,17986062,17981679,17972522,17962725,17958893,17950725,17949555,17943549,17923814,17908800,17901377,17893430,17893005,17886098,17879021,17876296,17851253,17845054,17786346,17725804,17718386,17699594,17680282,17671679,17666398,17660250,17653824,17640671,17638886,17624083,17623663,17616173,17613170,17611666,17607721,17589947,17570740,17564313,17563705,17559909,17546628,17545513,17541305,17540340,17516913,17493602,17493172,17488654,17487426,17486447,17473191,17437609,17435175,17429393,17409012,17384031,17383306,17377415,17374529,17367869,17364896,17363400,17350093,17335808,17326127,17320450,17314270,17299841,17299802,17289174,17265493,17258390,17243139,17237723,17236757,17226791,17217338,17208328,17205957,17203468,17203213,17189319,17188706,17182940,17181997,17178858,17177839,17175151,17151781,17109104,17099140,17089188,17088321,17088079,17081126,17071711,17070879,17065436,17033924,17012225,17008230,17000679,16987162,16967187,16961137,17448043,16940985,16919028,16897078,16894529,16891619,16888681,16884384,16840178,16829143,16803520,16778129,16776850,16772717,16755991,16739355,16728425,16722933,16718824,16718267,16647062,16615109,16585124,16575904,16551362,16510149,16476613,16458924,16456793,16453304,16438723,16425263,16424893,16414983,16413616,16407830,16379022,16364202,16361361,16359987,16356191,16344560,16341461,16339461,16338908,16313894,16308106,16306050,16275157,16260653,16213873,16188574,16168111,16158251,16146757,16142692,16142392,16097959,16083752,12880418,12879005,12878157,12873995,12861074,12845641,12832446,12810672,12764090,12753080,12684625,12676736,12657623,12651627,12642591,12632084,12632066,12615834,12614934,12602913,12601782,12589095,12587534,12586836,12569569,12559990,12522578,12486137,12479097,12477932,12475252,12473650,12471459,12470034,12451991,12439941,12438229,12431239,12393872,12393408,12376362,12374789,12372458,12371906,12235151,12225805,12198653,12194986,12193399,12149192,12147339,12147229,12122099,12115722,12103254,12087091,12085233,12077518,12039803,12034345,12032297,12029498,12023034,12007723,11961384,11956628,11948127,11935310,11929863,11928813,11928808,11920503,11918086,11895494,11889208,11854622,11844598,11839588,11833938,11824472,11792711,11790786,11782389,11762702,11756567,11748988,11728453,11598182,11571304,11485914,11431697,11420387,11382769,11368514,11220743,11179305,11168762,11134507,11114309,10991943,10986281,10947989,10900205,10652271,10652000,10551873,10419448,10356396,10196161,9933646,9853262,9737711,9640131,9438380,9344465,9343394,9182583,9119036,8862926,8692946,8663332,8663297,8549817,7947821,7935812,7782289,7694569,7683678,7583664,7523391,2162831,2158484,2071140,1851724,1846313,1460022,9699154,14982725,16189514,16042227,16023011,16023005,16018746,16005367,15998788,15998676,15983226,15955449,15955448,15955221,15944607,15929171,15911696,15904490,15885317,15878967,15866216,15841469,15831360,15820246,15756447,15754118,15743799,15731163,15691365,15672417,15665394,15665288,15651999,15637056,15632190,15621117,15616792,15609323,15609318,15609121,15604254,15569994,15567754,15557756,15541021,15522165,15492291,15489334,15489233,15485653,15475447,15449075,15381707,15375490,15351863,15317818,15317806,15280448,15280384,15277330,15271946,15265790,15255544,15254682,15250832,15248826,15248212,15241180,15201662,15165255,15102849,15067014,15056834,15051038,15015767,15009703,15004438,14996438,14990972,14990702,14983226,14981939,14973177,14871985,14766248,14744781,14732714,14713104,14710472,14697951,14694003,14679018,14666611,14661256,14644777,14644155,14614057,14604886,14583471,14580155,14520690,14519487,14500349,12970724,12970394,12967855,12952836,12939660,12914776,16082623 1582576,1582586,1582621,1581215,1582563,1582580,1582624,1582578,1582583,1582562,1582579,1582582,1582590,1582630,1582626,1582646,1582570,1582577,1582612,1582568,1582575,1582585,1582574,1582587,1582608,1302333,1582617,1582352,1582627,1601416,1642040,2290395,2290349,1302825,2290351,2290352,2290362,2290399,2290401,2290392,2290466,2290359,2290360,2290363,2290358,2290402,2290467 4313 AC007336,AJ298926,AY738117,CH471092,M33789,M55582,M55583,M55584,M55585,M55586,M55587,M55588,M55589,M55590,M55591,M55592,M55593,M58552,U96098,AK310314,AK312711,AL542407,AL832088,AU279927,BC002576,NM_004530,BQ004983,CR598192,CR608838,CR609745,DA993141,DQ385623,J03210,X58968 NP_004521,AAU10089,EAW82824,EAW82825,EAW82826,EAW82827,EAW82828,AAA52027,AAA52028,BAG35588,AAH02576,ABD38929,AAA35701,P08253,Q2EF79,Q9UCJ8,ABM82878,ABM86064 Hs.513617 GDB:120592 CLG4|CLG4A|MMP-II|MONA|TBE-1 matrix metalloproteinase 2 (gelatinase a, 72kda gelatinase, 72kda type iv collagenase) protein-coding 1318675 MMP20 matrix metallopeptidase 20 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and so the protein is thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes that localizes to chromosome 11q22.3. 1580863 9398237,17611094,15744043,15296943,11706946,10949161,10922468,10634581,10419448,8921407 9313 NM_004771,AP000851,AY673603,CH471065,AJ296177,Y12779 NP_004762,AAT70722,EAW67024,CAC14668,CAA73317,O60882,AAI52742 Hs.591946 GDB:9785816 MMP-20 protein-coding 1319622 MMP21 matrix metallopeptidase 21 This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling,and disease processes, such as asthma and metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. 1580863 17873896,16984259,16641547,15015597,14691307,12617721,12490321,11994741 118856 NM_147191,AL158835,AL360176,AY121358,AY885252,CH471066,AF331526,AF520613 NP_671724,CAH73211,CAI12086,AAM78033,AAW62254,EAW49230,AAM92903,AAM75352,Q8N119,AAI56369 Hs.314141 GDB:11508563 protein-coding 1602337 MMP23A matrix metallopeptidase 23A (pseudogene) This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. 15483646,11328856,10949161,10419448,9988691,9750192,9740677 8511 NR_002946,AL031282,AF057061,AF057062,AF086353,CR608527 AAC62617,AAC62618 Hs.671760 GDB:9955521 MIFR|MIFR-1|MMP21 pseudo 1344169 MMP23B matrix metallopeptidase 23B This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. 1580863 9988691,9740677,16710414,15489334,15483646,12477932,11328856,10949161,10419448,9750192 8510 NM_006983,AB031068,AF055334,AL691432,AB010961,AB010962,AF056200,AJ005256,BC025719 O75086,O75900,Q7Z592,Q7Z703,Q7Z704,NP_008914,BAA92769,AAC63527,AAC63528,AAC63529,CAM12834,CAM12835,CAM12836,BAA24833,BAA24834,AAC62616,CAB38176,AAH25719 Hs.192316 GDB:9955518 MIFR|MIFR-1|MMP22 matrix metalloproteinase 23b protein-coding 732592 MMP24 matrix metallopeptidase 24 (membrane-inserted) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 by cleavage. The gene has previously been referred to as MMP25 but has been renamed MMP24. 1580863 10363975,18062926,17952761,14990567,12879005,12661033,12477932,11780052,11457723,10640822,10419448 10893 CH471077,AB021227,AF131284,BC047614,DQ300264,R60687,NM_006690 NP_006681,EAW76222,BAA82967,AAD42962,AAH47614,ABC17785,Q2PW48,Q86VV6,Q9Y5R2 Hs.567417 GDB:9958455 MMP25|MT-MMP5|MT5-MMP matrix metalloproteinase 24 (membrane-inserted) protein-coding 1317990 MMP25 matrix metallopeptidase 25 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. 1580863 10628838,10706098,12493773,17513868,15149845,14755462,14583471,12860995,12477932,11282999,11226436,11034316,10419448,9653642,8663332 64386 BC111412,CB529891,NM_022468,AC108134,AJ003147,CH471112,AB042328,AF145442,AF185270,AJ003144,AJ239053,AJ272137 CAC03490,O43923,Q9NPA2,NP_071913,CAA05902,EAW85413,EAW85415,BAB20584,AAF66697,AAG17007,CAA05900,CAB94713 Hs.654979 GDB:11506245 MMP20|MMP20A|MMPL1|MT-MMP6|MT6-MMP matrix metalloproteinase 25 protein-coding 1347422 MMP26 matrix metallopeptidase 26 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein degrades type IV collagen, fibronectin, fibrinogen, casein, vitronectin, alpha 1-antitrypsin, alpha 2-macroglobulin, and insulin-like growth factor-binding protein 1, and activates MMP9 by cleavage. The protein differs from most MMP family members in that it lacks a conserved C-terminal protein domain. 1580863 10987280,10801841,18210030,17873896,17176253,16984259,16940965,16809379,16641547,15816845,15625428,15601912,15574774,15489334,15350356,15333466,15273280,14532275,12969699,14744773,12586837,12477932,12119297,11931652,11889136,11389678,10824119,10419448,11841844 56547 NM_021801,AC018375,AF291665,CH471064,AF230354,AF248646,AF291664,AJ251531,BC101541,BC101543 NP_068573,AAG02470,EAW68817,AAF80180,AAF82359,AAG00603,CAC08821,AAI01542,AAI01544,Q9NRE1 Hs.204732 GDB:11500942 MGC126590|MGC126592 matrix metalloproteinase 26 protein-coding 1315373 MMP27 matrix metallopeptidase 27 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. 12975309,10419448 64066 NM_022122,AP000647,AP000851,CH471065,AF195192,AY358752,BX102293 NP_071405,EAW67026,AAG28453,AAQ89112,Q9H306,AAI40434 Hs.534479 GDB:11506247 MMP-27 protein-coding 1323102 MMP28 matrix metallopeptidase 28 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Transcript variants encoding different isoforms have been described. 1580863 11121398,11255011,15953044,15593191,15185874,14730609,14506071,12975309,12477932,12164918,11574168 79148 NM_024302,NM_001032278,AC006237,AC015849,AF336346,CH471147,AA813101,AF219624,AF315683,AF330002,AK122604,AY358987,BC002631,BC011774,CR590246 NP_077278,NP_001027449,AAL15619,EAW80128,EAW80129,AAK01480,AAG41981,AAK01706,AAQ89346,AAH02631,AAH11774,Q96F04,Q96PI0,Q9BUG8,Q9H239 Hs.380710 GDB:11506249 EPILYSIN|MM28|MMP25 protein-coding 1345848 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1580550,1580551,1580553,1580863,2290426,1302825 18426080,18342317,18308831,18303200,18275497,18237197,18225577,18220784,18212480,18172013,18091353,18077489,18063811,18035073,18028894,18007247,18006768,17975717,17958893,17942123,17929133,17922906,17919326,17911432,17901377,17893005,17875574,17765638,17763953,17763214,17719307,17710450,17703334,17672933,17664256,17617837,3360803,18469698,18445105,15142265,15102660,15094779,15084374,15070833,15033492,15009479,14998290,14984923,14718574,14715248,14712311,13129650,12952836,12880418,12876636,12867428,12866026,12837283,12832381,12821236,12810672,12784383,12761889,12750310,12736398,12727228,12651627,12634064,12572877,12485468,12477941,12477932,12473595,12432557,12385578,12364729,12230559,12229968,12205736,12204805,12149192,12124858,12103254,12071839,12054629,12054564,12034715,12034345,12009331,11988625,11982752,11977998,11841844,11841344,11836255,11827795,11751414,11546917,11485914,11438501,11380116,11327577,11297453,11116068,10986281,10967118,10947989,10922468,10877850,10669564,10639284,10543949,10422833,10419448,17000887,17000679,16998253,16984617,16972994,16972255,16972019,16937230,16935611,16919028,16905683,16904077,16899023,16871440,16822591,16802342,16739355,16677108,16629857,16615041,16532917,16516860,16430740,16424284,16405530,16356191,16323393,16311244,16302209,16278009,16238676,16202315,16158251,16102106,16100452,16088212,16082623,16080875,15993717,15955221,15944607,15894268,15879464,15863497,15823277,15763339,15757531,15748780,15716694,15701845,15667946,15665388,15640153,15610507,17617834,17607721,17589947,17564313,17559909,17543900,17537400,17530713,17502998,17473191,17471097,17436000,17434489,17383306,17381556,17373931,17320799,17319946,17316907,17316652,17198194,17182940,17178858,17151781,17145822,17137622,17125518,17077200,17065356,17058024,17033924,17027562,17024375,17003494,15546966,15529384,15528217,15489334,15474069,15467919,15389640,15383690,15355616,15342709,15337261,15319302,15319295,15312099,15308783,15290728,15288468,15274394,15234427,15203551,15194213,15172469,15161710,9888835,9873489,9827994,9792098,9760240,9737711,9733482,9558113,9548733,9373149,9288970,9083493,8957070,8921407,8740360,8662692,8535233,8486377,8216228,8125298,7998967,7694569,7656014,7523391,3477804,3030290,2785989,2605216,2383557,11824472,15788677,15972662 1580550,1580551,1580553,2290426,1302825 4314 NM_002422,AF405705,AP000789,CH471065,J04732,M30460,U51914,U78045,AI628953,AK223283,AK223291,BC069676,BC069716,BC074815,BC074869,BC105954,BC107490,BC107491,J03209,X05232 NP_002413,AAK95247,EAW67032,AAN86644,AAO65616,AAB36942,BAD97003,BAD97011,AAH69676,AAH69716,AAH74815,AAH74869,AAI05955,AAI07491,AAI07492,AAA36321,CAA28859,P08254 Hs.375129 GDB:120727 MGC126102|MGC126103|MGC126104|MMP-3|SL-1|STMY|STMY1|STR1 matrix metalloproteinase 3 (stromelysin 1, progelatinase) protein-coding 736005 MMP7 matrix metallopeptidase 7 (matrilysin, uterine) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal protein domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1582393,1582373,1582385,1582397,1582388,1582381,1580863,1302333 16405530,16356191,16286510,16278009,16142384,16115946,16097959,15979995,15930031,15894268,15866216,15860507,15809719,15800927,15725655,15696117,15652345,15618645,15523695,15489334,15375490,15342556,15239678,15149334,1497627,18448157,18308831,18214300,18036564,18006768,17728005,17695544,17672933,17671679,17607721,17564313,17554258,17507989,17502620,17487834,17396032,17373931,17310281,17219436,17209789,17153464,17145868,17145820,17129995,17125518,17114341,17038551,17009258,17009118,16956593,16940985,16804904,16494848,16476739,16474379,16474169,16455621,15102692,15040016,14744783,14516315,12963695,12958188,12808021,12759346,12759241,12684625,12579270,12477932,12464266,12117418,12112311,12034400,12034345,12005165,11983918,11979071,11927011,11925859,11841844,11825873,11801551,11729324,11718469,11701474,11375993,11326276,11323016,11320086,11247893,11220743,10986281,10859319,10504457,10419448,9888422,9737711,9548733,9373149,9360944,9349239,9344615,9148753,8978768,8921407,8786845,8294454,8216228,8125298,7980522,7896811,7756291,7694569,2844164,2550050,2253219,16189514,15543138 1582393,1582373,1582385,1582397,1582388,1582381,1302333 4316 AP001830,AY795972,CH471065,L22520,L22521,L22522,L22523,L22524,AI675414,AK222980,BC003635,BP332706,X07819,Z11887,NM_002423 NP_002414,AAV40839,EAW67023,AAC37543,BAD96700,AAH03635,CAA30678,CAA77942,P09237,Q53GF1,ABM84058,ABW03571 Hs.2256 GDB:125751 MMP-7|MPSL1|PUMP-1 matrix metalloproteinase 7 protein-coding 1351878 MMP8 matrix metallopeptidase 8 (neutrophil collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage. Its function is degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. 1582626,1582641,1580863 2164002,16192646,18366705,18278188,17974962,17932311,17728507,17567680,17473191,17418871,17178858,16940985,16928431,16877349,16872847,16432074,16259988,16242329,16134994,15888067,15661397,15489334,15367487,15187163,15042023,14550288,12477932,12149192,12117418,12101112,12054629,11731274,11400153,10986281,10949161,10922468,10859319,10419448,10353844,9737711,9688535,9655333,9578462,9558113,9249047,9042108,8921407,8639592,8631924,8397318,8307185,8216228,8137810,7998967,7656015,2176876,2169766,2169256,2159879,1662606,1646048,1330697 1582626,1582641 4317 NM_002424,AP000647,CH471065,DQ141306,AK292659,BC074988,BC074989,J05556 NP_002415,EAW67027,AAZ38714,BAF85348,AAH74988,AAH74989,AAA88021,P22894 Hs.161839 GDB:128173 CLG1|HNC|PMNL-CL matrix metalloproteinase 8 (neutrophil collagenase) protein-coding 1348437 MMP9 matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. 1580554,1580575,1580576,1580577,1582628,1302333,1581215,1582620,1582630,1582631,1582647,1582656,1582611,1582642,1582644,1582616,1582618,1582637,1582655,1582626,1582645,1582646,1582648,1582612,1582653,1582352,1582623,1582640,1582641,1582617,1582615,1582639,1580863,1580550,1642035,1642039,1642040,1642041,1642046,1642051,1642053,1642054,1642055,1642026,1642027,1642028,1642029,1642030,1642031,1642033,2290395,1582532,2290436,1642042,1642043,1642047,2290351,2290358,2290399,2290352,2290354,2290343 2251898,2551898,16192646,18455130,18451255,18426080,18398039,18376229,18368597,18362300,18357389,18355442,18342317,18332090,18323498,18303200,18302674,18296264,18283635,18259971,18237197,18234959,18222174,18217401,18214300,18214299,18194081,18187184,18177474,18173548,18167127,18166633,18164995,18155181,18155162,18095095,18091353,18081721,18077379,18070596,18070420,18063832,18062964,18052707,18050191,18049028,18048771,18045645,18042068,18035073,18030366,18028894,18025061,18006877,16919028,16917093,16914095,16897078,16894529,16888026,16884727,16880228,16864898,16850107,16840734,16840178,16830792,16829143,16803520,16786122,16780738,16778129,16772717,16754484,16739355,16736997,16733654,16732316,16722933,16720051,16718267,16709939,16700817,16690896,16678588,16676616,16674956,16672230,16670311,16652230,16643654,16638593,16631427,16619037,16615109,16615041,16596205,16585124,16574900,16551853,16528670,16921111,16512877,16476613,16469801,16467043,16456793,16455621,16432074,16426593,16413616,16405530,16395864,16372907,16359987,16356191,16339461,16338908,16331612,16313894,16301860,16291395,16288746,16280123,16278009,16272296,16267613,16260653,16246065,16237750,16213873,16202218,16192641,16179285,16177394,16168399,16166639,16159601,16158251,16155381,16140265,16135959,16133529,16126934,16114056,16102725,16100452,16097959,16086239,16514055,16083752,15826319,15824527,15824107,15823277,15820246,15809093,15800029,15797648,15760679,15760647,15754388,15754326,15748780,15691353,15672417,15652414,15642145,15628723,15609318,15609121,15604254,15585220,16082623,16080811,16061858,16061852,16061701,16054858,16042227,16026590,16023005,16005367,15998676,15956726,15955221,15952124,15949868,15947272,15944607,15935515,15904490,15896974,15888067,15885317,15866216,15863510,15855236,15848174,15834245,15831558,18006768,18000233,17991734,17986062,17981679,17972522,17964826,17964292,17950725,17949555,17937912,17928006,17923814,17922642,17920311,17917789,17916907,17914564,17912241,17901377,17893005,17892998,17890452,17889183,17888724,17879021,17868665,17786346,17763331,17761425,17761309,17760717,17729419,17725804,17721627,17718386,17702963,17698228,17671679,17669467,17660250,17657740,17655938,17643435,17640671,17624083,17617834,17611666,17607721,17601679,17599818,17599356,17597813,17582780,17581988,17581602,17575075,17574455,17572495,17572184,17564313,17559909,17559070,17546628,17541305,17540340,17531242,17505560,17502998,17498910,17493602,17493236,17493172,17489740,17488482,17487763,17486447,17485071,17475671,17473191,17465457,17448220,17448043,17437609,17418871,17407789,17397984,17394006,17389601,17384080,17383306,17367869,17364896,17350093,17346338,17334233,17332331,17320799,17320450,17311292,17311279,17310847,17299841,17298441,17289174,17589947,17275949,17275003,17261792,17243139,17237723,17226791,17224907,17223007,17222798,17221318,17214970,17208328,17205957,17200207,17186550,17182940,17178858,17176047,17175378,17174275,17163537,17161406,17161405,17151782,17137715,17137622,17134708,17126384,17116693,17110919,17109104,17091328,17089188,17077200,17077165,17076610,17071711,17065436,17052690,17049831,17033924,17030690,17024375,17020973,17018612,17011110,17008230,16990429,16990034,16987162,16984917,16980554,16961137,16954500,16952784,16945027,16940985,16926552,17278189,16516857,15583828,15569994,15565457,15557756,15556929,15541021,15536155,15531921,15531749,15528190,15522165,15498369,15489334,15465610,15449075,15385524,15384859,15363818,15363817,15356679,15328199,15327032,15316122,15313474,11956628,11940298,11935310,11920505,11920503,11916008,11890521,11876767,11875051,11854622,11839746,11839588,11833938,11830485,11827968,11827795,11813159,11781819,11780052,11756567,11742492,11708786,11688724,11675412,11606713,11576356,11557670,11546917,11486009,12437116,12431981,12431239,12414663,12398893,12376362,12372334,12356580,12235151,12235127,12231534,12219015,12208863,12205736,12193399,12183836,12127674,12126625,12105194,12103254,12084167,12082592,12082590,12081477,12077439,12063180,12062817,12054499,12051944,12050187,12034345,12029498,12004062,11999552,11994547,11986939,11978564,11971760,11958288,11410119,11279011,11179305,11168762,11134254,11081634,11023497,10988146,10900205,10796887,10706134,10652271,10644727,10642956,10598806,10580107,10419448,10389762,10339412,9878537,9789069,9590175,9378998,9268487,8978762,8691515,8568270,8426746,8216228,8012988,7762981,7669817,2158484,1932376,1851724,1653238,1653055,1645657,1400481,1371271,1281792,15288392,11468147,10636480,16189514,12950257,9344465,7896811,15277439,15271946,15265790,15256791,15254682,15248826,15247301,15241180,15239215,15223247,15214991,15212936,15204835,15201662,15191941,15169910,15165255,15146197,15132991,15131051,15123665,15122332,15118287,15105396,15094060,15085249,15084374,15075244,15070833,15067014,15064242,15034761,15033492,15022328,15015767,15009705,14990702,14983226,14982353,14981939,14973177,15311942,14767860,14766231,14744773,14719079,14705229,14697951,14687896,14681642,14676438,14675172,14661256,14661062,14644158,14633819,14624478,14607966,14605329,14581136,14561155,14551878,14550924,14550288,14520690,14500349,12970724,12967855,12960961,12960156,12958623,12952836,12949792,12947332,12921631,12914776,12880418,12879005,12874388,12866035,12865405,12861851,12850503,12847101,12830465,12824186,12811828,12810681,12791318,12789238,12769333,12753719,12750540,12745093,12728308,12727228,12724312,12717827,12717622,12712078,12704537,12671895,12668489,12663332,12651627,12642591,12626459,12615834,12612199,12606037,12589095,12587534,12586837,12569569,12559990,12479099,12479097,12477932,12471459,12464265,12452001,12444074,12443715,14963289 1580554,1580575,1580576,1580577,1582628,1302333,1581215,1582620,1582630,1582631,1582647,1582656,1582611,1582642,1582644,1582616,1582618,1582637,1582655,1582626,1582645,1582646,1582648,1582612,1582653,1582352,1582623,1582640,1582641,1582617,1582615,1582639,1580550,1642035,1642039,1642040,1642041,1642046,1642051,1642053,1642054,1642055,1642026,1642027,1642028,1642029,1642030,1642031,1642033,2290395,1582532,2290436,1642042,1642043,1642047,2290351,2290358,2290399,2290352,2290354,2290343 4318 NM_004994,AF148064,AF538844,AL162458,AX011001,CH471077,D10051,DQ194553,M68351,M68355,AW468235,BC006093,CN288579,J05070 NP_004985,AAD37404,AAM97934,CAC10459,CAC07541,EAW75776,BAA20967,ABA03169,AAH06093,AAA51539,P14780,Q9UCJ9,Q9Y354,ABM87790,ABW03866 Hs.297413 GDB:125224 CLG4B|GELB|MMP-9 matrix metalloproteinase 9 (gelatinase b, 92kda gelatinase, 92kda type iv collagenase) protein-coding 1353163 MMPL1 matrix metalloproteinase-like 1 1580863 9653642 4328 O43923 NM_004142,AJ003144 GDB:9958840 1352887 MMRN1 multimerin 1 Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. 1580863 9189649,16363244,16335952,16263699,15849733,15583744,15489334,15452129,12665801,12477932,10828608,9798985,9454761,9372017,8652809,8514871,7629143 22915 NM_007351,AC093759,CH471057,AK125557,BC063848,BM126740,U27109 NP_031377,AAY40957,EAX06037,EAX06038,BAC86201,AAH63848,AAC52065,Q13201,Q4W5L1,Q6ZUL9 Hs.268107 ECM|EMILIN4|GPIa*|MMRN protein-coding 1322933 MMRN2 multimerin 2 1580863 16335952,15489334,14702039,12477932,11559704 79812 NM_024756,AC025268,CH471142,AK023527,BC064415,BC072456,BC094744 NP_079032,EAW80319,BAB14599,AAH64415,AAH94744,Q9H8L6 Hs.524479 EMILIN3|ENDOGLYX1|EndoGlyx-1|FLJ13465 protein-coding 1354311 MMS19 MMS19 nucleotide excision repair homolog (S. cerevisiae) 11279242,11071939,16797255,15489334,15164054,14702039,12477932,11328871,9373149,9110174,8619474,8125298,17353931 64210 BU942293,CR615346,DC382324,DC382327,DC403135,DC410036,NM_022362,AL355490,AL359388,AY974244,CH471066,AF007151,AF319947,AF357881,AJ306408,AK025496,AK027710,AK056244,AK056581,AK225312,AK314374,BC002692,BC006575,BC007298,BC009396,BC033101,BC080532,BC117129 AAI17130,O43410,Q5JTG3,Q5T454,Q96T76,NP_071757,CAI40770,CAQ10797,CAQ10798,CAI14189,CAI14190,AAX59033,EAW49921,EAW49922,EAW49923,EAW49924,EAW49925,EAW49926,EAW49927,EAW49928,AAC19154,AAK52668,AAK70402,CAC29239,BAB55315,BAB71223,AAH02692,AAH06575,AAH07298,AAH09396,AAH80532 Hs.500721 GDB:11500877 FLJ34167|FLJ95146|MET18|MGC99604|MMS19L|hMMS19 protein-coding 1351083 MMVP2 myxomatous mitral valve prolapse 2 12707861 352956 1348081 MN1 meningioma (disrupted in balanced translocation) 1 Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. 1600423,1600424,1624321,1580863 17698380,17525718,17494859,17242174,16105979,16081688,15890672,15302935,12569362,8786123,7731706,7731705 1600423,1600424,1624321 4330 NM_002430,AL031591,AL390210,CH471095,EF540994,X82209,Z70218 NP_002421,EAW59741,EAW59742,ABQ01232,CAA57693,CAA94179,Q10571,Q5T313,AAI52906,AAI56880,CAK54441,CAK54740 Hs.268515 GDB:580528 MGCR|MGCR1|MGCR1-PEN|dJ353E16.2 protein-coding 733503 MNAT1 menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis) Cyclin-dependent kinases (CDKs), which play an essential role in cell cycle control of eukaryotic cells, are phosphorylated and thus activated by the CDK-activating kinase (CAK). CAK is a multisubunit protein that includes CDK7 (MIM 601955), cyclin H (CCNH; MIM 601953), and MAT1. MAT1 (for 'menage a trois-1') is involved in the assembly of the CAK complex.[supplied by OMIM] 1580863 11445587,8521818,9405375,10583946,8692841,8692842,8946909,1939271,2449431,7629134,7799941,9512541,9582279,9790902,10214908,11313499,12393749,12646563,16782892,17707548,17628022,17353931,16935935,15489334,15328539,15282296,15220921,14569024,12527756,12477932,12379213,12213824,12140753,11113200,11113176,11056214,11056162,10949034,10866664,10438593,10428966,10082552,10066804,10024882,9765201,9651670,9570510,9465303,9372954,9368058,9334327,9311822,9184228,9130708,9121429,9118947,9054383,8934526,8849451,8628270,8521393,8308015,16189514,9840937 4331 NM_002431,AL132777,AL160236,AY165512,CH471061,AA053721,BC000820,BU620200,CR450336,CR601430,CR602764,CR603397,U61835,X87843,X92669 NP_002422,AAN47195,EAW80787,EAW80788,EAW80789,EAW80790,EAW80791,AAH00820,CAG29332,AAB05248,CAA61112,CAA63356,P51948,Q6ICQ7 Hs.509523 GDB:7037523 MAT1|RNF66|TFB3 protein-coding 1604777 MND1 meiotic nuclear divisions 1 homolog (S. cerevisiae) The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM] 17639080,16407260,12477932,11940665 84057 NM_032117,AC013477,CH471056,AY028916,BC032142,BM833450,BU533354 NP_115493,EAX04964,EAX04965,AAK26168,AAH32142,Q9BWT6,ABM82912,ABM86102 Hs.294088 GAJ protein-coding 1314505 MNDA myeloid cell nuclear differentiation antigen The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. 1580863 1644857,16651415,16458891,15778972,15489334,12477932,12112016,9712147,8175894,7806273,7512843,7327575,1377701,14618084 4332 NM_002432,AL513205,CH471121,U30245,AK290392,BC020715,BC032319,M81750 NP_002423,CAH73796,CAH73797,EAW52807,EAW52808,BAF83081,AAH20715,AAH32319,AAA69696,P41218,Q05CU9,Q5VUU5,Q5VUU6 Hs.153837 GDB:132653 PYHIN3 protein-coding 1343971 MNG1 multinodular goitre 1 9345104 4333 GDB:6540062 1342804 MNGIE myoneurogastrointestinal encephalopathy syndrome 8164833 4334 GDB:9835128 1605067 MNS1 meiosis-specific nuclear structural 1 The MNS1 gene encodes a meiosis-specific structural protein expressed at the pachytene stage during spermatogenesis, thought to have a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis (Furukawa et al., 1994 [PubMed 8032679]; Hotta et al., 1995 [PubMed 7625268]).[supplied by OMIM] 16189514,14702039,12477932,8032679,7625268 55329 NM_018365,AC068713,AC084782,CH471082,AK002084,AK057542,BC012554,BC031046,BC034991 NP_060835,EAW77501,EAW77502,BAA92077,AAH31046,AAH34991,Q8NEH6,ABW03743,ABW03602 Hs.444483 FLJ11222 protein-coding 1318597 MNT MAX binding protein The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. 1580863 15489334,15258910,15146197,12477932,11748221,11314024,11230181,10918583,9199935,9598315,9184233,18155722,17577784,16341674 4335 NM_020310,AC006435,CH471108,Y13440,Y13444,AF318360,AK291596,BC033186,BC117563,BM469815,BM820333,BM876168,BM876428,BQ675978,CA950091,CN428911,CN428913,CR598337,X96401 NP_064706,EAW90541,EAW90542,EAW90543,CAA73851,AAL55867,BAF84285,AAH33186,AAI17564,CAA65265,Q8N4Y5,Q8WYU0,Q99583 Hs.626579,Hs.632239 GDB:9848615 MAD6|MXD6|ROX protein-coding 1344566 MNX1 motor neuron and pancreas homeobox 1 1580863 10329000,1712647,7550324,1677181,7914194,9843207,17612791,16646086,16498628,15998911,15839736,15790807,15772702,11940082,11528505,10749657,10631160 3110 NM_005515,AC006357,AF107453,CH236954,CH471149,U07663,U07664,AF107457,AY927460,CR623223,X56537 NP_005506,AAD41467,EAX04564,AAB60647,CAA39882,P50219,Q9UDY3 Hs.37035 GDB:136411 HB9|HLXB9|HOXHB9|SCRA1 homeo box hb9 protein-coding 1316298 MOAP1 modulator of apoptosis 1 The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. 1580863 11060313,11256614,17535899,16713569,16381901,16344548,16189514,15949439,15489336,15489334,14702039,12477932,11076863 64112 NM_022151,AL110118,CH471061,AF305550,AK024029,BC015044,BG475323,BG699993,BG704865,CR612994,CR622098 NP_071434,EAW81516,AAG31786,BAB14788,AAH15044,Q0JUF7,Q96BY2,CAL37854,ABM82103,ABM85285 Hs.24719 GDB:11511188 MAP-1|PNMA4 protein-coding 1312955 MOBKL1A MOB1, Mps One Binder kinase activator-like 1A (yeast) The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. 737633,1580863 15197186,15067004,15489334,14702039,12477932,8889548 737633 92597 NM_173468,AC021989,AC093851,AC108014,CH471057,AA417950,AJ577473,AK093545,AL162039,BC038112,BC044913,BF129919,BG033976,BG433921,BQ229138,CA311370 NP_775739,AAY41047,EAX05635,EAX05636,CAE12091,AAH38112,Q4W5E0,Q7L9L4 Hs.31422,Hs.700445 MATS2|MGC33910|MOB4A|Mob1B protein-coding 1315956 MOBKL1B MOB1, Mps One Binder kinase activator-like 1B (yeast) 15197186,17353931,17611689,16189514,15815621,15766530,15489334,14702039,12962634,12665801,12477932,11319234 55233 NM_018221,AC073263,CH471053,CQ826793,AB016839,AJ577474,AK001650,AK021657,AK023321,BC003398,CR595787 NP_060691,AAX93060,EAW99695,EAW99696,CAG44585,BAB19058,CAE12093,BAA91810,BAB13868,BAB14525,AAH03398,Q9H8S9 Hs.196437 C2orf6|FLJ10788|FLJ11595|MATS1|MOB1|MOBK1B|Mob4B protein-coding 1317819 MOBKL2A MOB1, Mps One Binder kinase activator-like 2A (yeast) 737633,1580863 11256614,16381901,15489336,15489334,15057824,14702039,12477932,11230166,11076863 737633 126308 NM_130807,AC005328,AB061793,AJ580635,AK094732,AK095471,AL832474,BC009547,BC015049,CR627409 NP_570719,AAC27672,BAB84554,CAE45267,AAH15049,CAH10498,Q0JU89,Q6AI16,Q96BX8,CAL37922 Hs.86912 moblak protein-coding 1346999 MOBKL2B MOB1, Mps One Binder kinase activator-like 2B (yeast) The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. 737633 17353931,16344560,16189514,15489334,14702039,12477932,8889548 737633 79817 AL451123,AL163192,NM_024761,AK022201,AK023266,AK074231,AK097199,AK172755,AL832572,AU126938,BC033027,BF511468,BI860336,CB128567,CR457307,CH471071,AA149400,AI692878,AJ580636 NP_079037,BAB14497,BAB85024,BAD18741,CAD89934,AAH33027,CAG33588,Q86TA1,Q8TEC6,ABM82128,ABM85311,EAW58562,CAE45268 Hs.690014,Hs.699322 FLJ13204|FLJ23916|MGC32960|MOB3B protein-coding 1317238 MOBKL2C MOB1, Mps One Binder kinase activator-like 2C (yeast) The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 15489334,14702039,12477932,8889548 148932 NM_201403,NM_145279,AL136373,CH471059,AJ580637,AK090453,AK091808,BC026078,BC121169,BG717827,BI601393,CF125162,CR599319 NP_958805,NP_660322,CAI14766,CAI14767,EAX06898,EAX06899,CAE45269,BAC03434,BAC03752,AAI21170,Q5TC10,Q5TC11,Q70IA8 Hs.632401 MGC26743|MOB3C protein-coding 1601878 MOBKL3 MOB1, Mps One Binder kinase activator-like 3 (yeast) This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 14702039,12477932,11872741,11319234,11230166,11217851,10810093,15489334,17353931,16189514,16169070 25843 NM_199482,NM_015387,NM_001100819,AC020550,CH471063,AB015441,AF093825,AF151853,AF250319,AJ580638,AK027043,AK289377,AK292938,AL080070,BC005237,CR457371,CR602742,DC350915 NP_955776,NP_056202,NP_001094289,AAX93147,EAW70164,EAW70165,EAW70166,EAW70167,EAW70168,BAB19057,AAP97221,AAD34090,AAG44567,CAE45270,BAB15635,BAF82066,BAF85627,CAB45697,AAH05237,CAG33652,Q53SE0,Q9Y3A3 Hs.645458 GDB:11507524 2C4D|CGI-95|MGC12264|MOB1|MOB3|PREI3 protein-coding 736574 MOBP myelin-associated oligodendrocyte basic protein 633191 7989345,17964117,16344560,15489334,15009677,14702039,12477932,9749786 633191 4336 NR_003090,NM_182935,AC092058,CH471055,AK094745,AK095180,AK124766,AK127034,AK290187,BC022471,BC075796,BC119694,BC119695,CR610306,D28113,D28114,DA343382,DA418624,EB387411 NP_891980,EAW64588,EAW64589,EAW64590,EAW64591,EAW64592,EAW64593,EAW64594,BAC85939,BAF82876,AAH22471,AAH75796,AAI19695,AAI19696,BAA05659,BAA05660,Q13875,Q6ZVC3 Hs.121333 GDB:3890884 MGC87379 myelin-associated oligodendrocytic basic protein protein-coding 1318297 MOCOS molybdenum cofactor sulfurase 11302742,17368066,16964243,15489334,15302935,14624414,12477932,9373149,8125298 55034 NM_017947,AC023043,CH471088,CS300660,AK000740,AK222886,AL834481,BC012079,BQ931455 NP_060417,EAX01378,CAK32324,BAA91353,BAD96606,CAD39140,AAH12079,Q96EN8,ABM86767,ABW03823 Hs.405028 FLJ20733|HMCS|MOS protein-coding 1318258 MOCS1 molybdenum cofactor synthesis 1 Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in molybdenum cofactor biosynthesis. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA. Two of the splice variants found for this gene express proteins (MOCS1A-MOCS1B) that result from a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. 1625104,1558665,1624402,1600439 9731530,17065069,15489334,15180982,14702039,14574404,12754701,12477932,12208140,11891227,10917590,10327149,10053004,9921896,9812897,9634514 1625104,1558665,1624402,1600439 4337 NM_001075098,NM_005943,NM_138928,NM_005942,AJ293577,AJ404969,AL136089,CH471081,AF034374,AF214015,AF214022,AF214023,AJ224328,AK056740,AK091306,AY423726,BC036839,CR610341 NP_001068566,NP_005934,NP_620306,NP_005933,CAC44527,CAC44526,CAI20007,CAI20008,CAI20009,CAI20011,CAI20012,EAX03998,EAX03999,EAX04000,EAX04001,EAX04002,AAB87523,AAB87524,AAF67843,AAF67844,AAF67857,AAF67858,CAA11897,CAA11898,AAS00489,AAH36839,O14940,Q5J7W0,Q5TCE1,Q5TCE2,Q5TCE5,Q5TCE6,Q9NP26,Q9NP27,Q9NZB8,AAI40422,CAI20013,CAI20014,CAI20015 Hs.357128 GDB:9862235 KIAA0381|MIG11|MOCOD|MOCS1A|MOCS1B protein-coding 1346599 MOCS1P1 molybdenum cofactor synthesis 1 pseudogene 1 27187 NG_001271,AJ272089 GDB:10795916 pseudo 1348601 MOCS1P2 molybdenum cofactor synthesis 1 pseudogene 2 27186 GDB:10795917 1347583 MOCS2 molybdenum cofactor synthesis 2 Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. 1625104,1556492,1558665,1580863 9889283,9731530,17158010,16964243,16737835,16021469,15489334,15073332,12754701,12732628,12477932,11746050,10053004,10053003,9812897,1427786 1625104,1556492,1558665 4338 NM_176806,NM_004531,AC008966,CH471123,AA252410,AF091871,AF117815,AF155659,AK126211,BC029287,BC039720,BC046097,BC095417,CD514049,CR457172,CR598495,CR615175,CR615842,CR621969,CR624096 NP_789776,NP_004522,EAW54874,EAW54875,EAW54876,EAW54877,AAD14598,AAD14599,AAD13296,AAD13297,AAF67478,BAC86486,AAH46097,CAG33453,O96007,O96033,Q6IAI3,Q6ZTU3 Hs.163645 GDB:9863058 MCBPE|MOCO1|MOCS2A|MOCS2B|MPTS protein-coding 1316006 MOCS3 molybdenum cofactor synthesis 3 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. One of the enzymes required for the biosynthesis of MoCo is molybdopterin synthase (MPT synthase). The protein encoded by this gene adenylates and activates MPT synthase. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. 1625104,1580863 15231747,17459099,15910006,15489334,15073332,12754701,12477932,11972321,11780052,11746050,16189514 1625104 27304 NM_014484,AL034553,CH471077,AF102544,BC015939,BG105185,CR599749 NP_055299,CAB53750,EAW75606,AAC72412,AAH15939,O95396,ABM83281,ABM86472 Hs.159410 GDB:11506251 MGC9252|UBA4|dJ914P20.3 protein-coding 1350729 MOCS3P molybdenum cofactor synthesis 3 pseudogene 326305 NG_002557,AL137918 pseudo 736817 MOG myelin oligodendrocyte glycoprotein The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 9210466,8915905,8812306,8666381,8367453,7964757,7790876,1373175,8530032,18001301,17971048,17928868,17897745,17573820,17554625,17509152,17402967,17142321,16903876,16900754,16344560,15660663,15146195,14688379,14574404,12817031,12482392,12477932,12149493,12115610,12077287,11895369,11739534,11118029 4340 AY566851,AY566852,AY566853,AY566854,BC035938,BG699861,BI545470,BX107434,CR598447,CR623648,DA252279,U18798,U18799,U18800,U18801,U18803,U18840,U18843,U64564,U64565,U64566,U64567,U64568,U64569,U64570,U64571,X74511,AY566848,NM_001008228,NM_206811,NM_206809,NM_002433,NM_206812,NM_206810,NM_001008229,NM_206813,NM_206814,AL050328,AL645936,AL662826,AL669813,AL929591,BX120002,CH471081,Z48051,AB209815,AI205181,AL119259,AY566847 AAU09339,AAU09342,AAU10102,AAU09343,AAU09344,AAH35938,AAC50876,AAC50877,AAB36870,AAC50878,AAC50879,AAC50361,AAC50362,AAB08088,AAB08089,AAB08090,AAB08091,AAB08092,AAB08093,AAB08094,AAB08095,CAA52617,Q16653,Q29ZN8,Q29ZN9,Q4V357,Q56UX9,Q56UY0,Q59EJ6,Q5JNX7,Q5JNY1,Q5JNY2,Q5JNY4,Q5SSB5,Q5SSB6,Q5SSB7,Q5SSB8,Q5STL9,Q5STM0,Q5STM1,Q5STM2,Q5SUK4,Q5SUK5,Q5SUK6,Q5SUK7,Q5SUK8,Q5SUK9,Q5SUL0,Q5SUL1,Q8IYG5,Q9NU64,Q9NU65,NP_001008229,NP_996534,NP_996532,NP_002424,NP_996535,NP_996533,NP_001008230,NP_996536,NP_996537,CAI18020,CAI18021,CAI18022,CAI18023,CAI18024,CAI18025,CAI18026,CAI18027,CAM25411,CAI17394,CAI17395,CAI17396,CAI17397,CAI17398,CAI17399,CAI17400,CAI17401,CAM24804,CAI17634,CAI17636,CAI17637,CAI95412,CAI41911,CAI41912,CAI41913,CAI41914,CAI41915,CAI41917,CAI41918,CAI95560,CAI95561,CAI95562,CAI95563,CAI95564,CAI95565,CAI95566,CAI95568,EAX03213,EAX03214,EAX03215,EAX03216,EAX03217,EAX03218,EAX03219,EAX03220,CAA88109,BAD93052,AAU09338,ABM83300,ABM86511,ABM86512,ABW03311,Q9NU66 Hs.141308 GDB:309079 MGC26137|MOG IG-2' protein-coding 1323209 MOGAT1 monoacylglycerol O-acyltransferase 1 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM] 15815621,14970677,12077311,11481335 116255 NM_058165,AC104772,CH471063,AF384163,BN000154 NP_477513,AAX81987,EAW70805,EAW70806,AAK84178,CAD89265,Q96PD6,AAI40228,AAI46519 Hs.344090 DGAT2L|DGAT2L1|MGAT1 protein-coding 1316028 MOGAT2 monoacylglycerol O-acyltransferase 2 Dietary fat absorption from the small intestine is facilitated by acyl-CoA:monoacylglycerol transferase (MOGAT; EC 2.3.1.22) and acyl-CoA:diacylglycerol acyltransferase (DGAT; see MIM 604900) activities. MOGAT catalyzes the joining of monoacylglycerol and fatty acyl-CoAs to form diacylglycerol (Yen and Farese, 2003 [PubMed 12621063]).[supplied by OMIM] 15489334,14970677,14966132,14702039,12824082,12621063,12576479,12477932 80168 NM_025098,AP001922,CH471076,AK000245,AK026297,AK128620,AK291998,AY157608,BC103876,BC103877,BC103878 NP_079374,EAW74982,EAW74983,BAB15436,BAC87534,BAF84687,AAO23672,AAI03877,AAI03878,AAI03879,Q3SYC2 Hs.288568 DGAT2L5|FLJ22644|MGAT2|MGC119183|MGC119184|MGC119185 protein-coding 1350436 MOGAT3 monoacylglycerol O-acyltransferase 3 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM] 15489334,14970677,12975309,12853948,12618427,12477932,9847074 346606 NM_178176,AC004876,CH471197,AY229854,AY358200,BC100953,BC100954,BC100955 NP_835470,AAD45832,EAW50203,EAW50204,AAO63579,AAQ88567,AAI00954,AAI00955,AAI00956,Q86VF5 Hs.512217 DC7|DGAT2L7|MGAT3|MGC119203|MGC119204 protein-coding 1601843 MON1A MON1 homolog A (yeast) 14702039,16713569,12477932 84315 NM_032355,AC105935,CH471055,AK074404,AK092018,BC006299,BC009459,BC047022,CR598615,CR626253 NP_115731,EAW65037,EAW65038,BAC03790,AAH06299,AAH09459,AAH47022,Q86VX9 Hs.655014 MGC13272|SAND1 protein-coding 1605088 MON1B MON1 homolog B (yeast) 17109635,14702039,12828340,12477932,10048485,8889548 22879 NM_014940,AC009139,CH471114,AB020679,AF442486,AK023374,AK023896,AK128411,AW503582,BC024277,BU682558,CF125013 NP_055755,EAW95607,EAW95608,BAA74895,AAL35292,BAB14549,BAC87427,AAH24277,Q6ZR87,Q7L1V2,Q9H8Q7 Hs.513743 HSRG1|SAND2 protein-coding 1604635 MON2 MON2 homolog (S. cerevisiae) 16381901,16344560,16301316,15489336,14702039,12477932,11230166,11076863,10470851,14743216 23041 NM_015026,AC026115,AC079035,AB017814,AB028963,BX537415,CR590768,DA125763,AK022671,AK092646,AK123842,AL833066,AL834320,BC065289,BC141817,BC142710,BC151241 NP_055841,BAC11707,CAD97657,Q0JU15,Q6P148,Q7Z3U7,CAL37997,BAA82992,BAC03935,CAD89933,CAD38989,AAH65289,AAI41818,AAI42711,AAI51242 Hs.389378 KIAA1040|MGC35493 protein-coding 1321422 MORC1 MORC family CW-type zinc finger 1 This protein is the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis since testis from knockout mice show greatly increased numbers of apoptotic cells. 10369865,15489334,12477932,11060461 27136 NM_014429,AC016948,AC112138,CH471052,AF084946,AL353955,BC028680,BC050307 NP_055244,EAW79714,AAD43004,CAB89255,AAH50307,Q86VD1 Hs.591296 GDB:10029339 MORC|ZCW6 protein-coding 1321976 MORC2 MORC family CW-type zinc finger 2 1580863 17081983,16964243,16565220,15489334,15461802,15302935,14607086,12477932,10591208,10048485 22880 NM_014941,AC004542,CH471095,AB020659,AL133637,BC019257,BC136782,CR456469 NP_055756,AAC12954,EAW59921,EAW59922,BAA74875,CAB63760,AAH19257,AAI36783,CAG30355,Q9Y6X9,AAI41658,CAK54450,CAK54749 Hs.555918 ZCW3|ZCWCC1 zinc finger, cw-type with coiled-coil domain 1 protein-coding 1317400 MORC3 MORC family CW-type zinc finger 3 This gene encodes a protein that localizes to the nuclear matrix. The protein also has RNA binding activity, and has a predicted coiled-coil domain. 1580863 17332504,16567619,14702039,14607086,12477932,11927593,10830953,8889548,8590280 23515 NM_015358,AP000692,AP000693,CH471079,AK025327,AK125011,AK292957,BC007311,BC042609,BC058002,BC094779,BC132731,BM665866,BU657895,D50926 NP_056173,BAA89432,EAX09742,BAF85646,AAH42609,AAH58002,AAH94779,AAI32732,BAA09485,Q14149,Q4VBZ9,Q6PEL1,Q86YD6 Hs.421150 NXP2|ZCW5|ZCWCC3 zinc finger, cw-type with coiled-coil domain 3 protein-coding 1345473 MORC4 MORC family CW-type zinc finger 4 1580863 15790807,15772651,15231748,14702039,14607086 79710 NM_024657,NM_001085354,AL158821,CH471120,AK021627,AK056235,AY927537,CA448781,CB989767,CR594041,CR613067,EF125209,EF125210 NP_078933,NP_001078823,CAI43049,EAX02725,EAX02726,EAX02727,EAX02728,BAB13859,BAB71125,ABL84747,ABL84748,Q8TE76 Hs.496544 FLJ11565|ZCW4|ZCWCC2|dJ75H8.2 protein-coding 1348273 MORF4 mortality factor 4 Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.[supplied by OMIM] 1580863 9891081,10705034,10232582,2062841,12391155 10934 NM_006792,AC079789,AF100614 NP_006783,AAD29871,Q9Y690 Hs.534391 GDB:9958613 CSR|CSRB|SEN|SEN1 protein-coding 1317423 MORF4L1 mortality factor 4 like 1 1580863 14506250,17573780,17460191,17353931,17135209,17008723,16407074,16189514,15647280,15635413,15498874,15489334,15367658,15196461,14966270,14702039,12963728,12477932,12397079,12391155,11500496,11042152,9891081,9110174,8619474 10933 AF167173,AF218011,AK095823,AK098485,AL137697,AY148481,BC002936,BC022845,BC067826,BC121092,BC121093,BC141840,BG771854,CR590569,CR599199,CR599453,CR600778,CR601080,CR605106,CR605109,CR606364,CR606633,CR608590,CR613253,CR613628,CR613862,CR614825,CR616387,CR617357,CR621917,CR622863,CR624868,CR625082,NM_206839,NM_006791,AC011944,AC103975,CH471136,AF070664,AF100615,AF109188,AF131847,AF161546 AAF29033,AAF80854,AAG17253,CAB70879,AAN65338,AAH02936,AAH22845,AAH67826,AAI21093,AAI21094,AAI41841,Q0VAE4,Q9UBU8,ABM83528,ABM86763,NP_996670,NP_006782,EAW99144,EAW99145,EAW99146,EAW99147,AAD20970,AAD29872,AAQ13497,AAD20058 Hs.374503 Eaf3|FWP006|HsT17725|MGC10631|MORFRG15|MRG15|S863-6 protein-coding 1347861 MORF4L2 mortality factor 4 like 2 1580863 14702039,14506250,10942595,17353931,15772651,15647280,15489334,12963728,12477932,12391155,11988016,9891081,9373149,8125298,7584028,7584026 9643 NM_012286,AL049610,CH471190,AB050778,AB050779,AF100620,AF167174,AK056012,AK095298,AK126115,AK126427,AK223504,BC056899,BC093013,CR591672,CR591939,CR592635,CR596284,CR596770,CR599203,CR599214,CR599829,CR600428,CR602458,CR604083,CR604767,CR605193,CR605347,CR606527,CR606859,CR609555,CR610517,CR611146,CR614320,CR614933,CR614948,CR618186,CR620070,CR620931,CR621359,CR621622,CR622529,CR623503,CR623631,CR625600,CR626356,D14812 ABZ92277,AAH93013,NP_036418,CAB55701,CAI42159,CAI42160,CAI42161,CAI42162,CAI42163,EAW54697,EAW54698,EAW54699,EAW54700,EAW54701,BAC22659,AAD29873,AAF80855,BAD97224,AAH56899,BAA03553,Q15014,Q53EY5,Q5JXX1,Q5JXX2,Q5JXX3,Q5JXX4,Q5JXX6 Hs.326387,Hs.597035 KIAA0026|MORFL2|MRGX protein-coding 1352945 MORF4LP1 mortality factor 4 like pseudogene 1 9891081 326591 NG_002588,AF100616,AL445435 MRG1 pseudo 1349684 MORF4LP2 mortality factor 4 like pseudogene 2 9891081 326592 NG_002589,AF100618 MRG5 pseudo 1342535 MORF4LP3 mortality factor 4 like pseudogene 3 9891081 326593 NG_002590,AC087207,AF100619 MRG11 pseudo 1352910 MORF4LP4 mortality factor 4 like pseudogene 4 9891081 326594 NG_002591,AC007537,AF100617 MRG4 pseudo 1601942 MORG1 mitogen-activated protein kinase organizer 1 11991638,16407229,15489334,15118098,12477932,9373149,8125298 84292 NM_001099737,NM_032332,AC010422,CH471106,AK074525,AK223195,BC005870,CB143206,CR602746 NP_001093207,NP_115708,EAW84282,EAW84283,EAW84284,BAD96915,AAH05870,Q9BRX9 Hs.657204 MGC4238 protein-coding 1602465 MORN1 MORN repeat containing 1 16710414,15489334,14702039,12477932 79906 NM_024848,AL513477,AL589739,CH471183,AK024003,BC021704 NP_079124,CAI22608,CAI22609,CAI22610,CAI22611,EAW56115,BAB14768,AAH21704,Q5T089 Hs.709528 FLJ13941|RP4-740C4.1 protein-coding 1603521 MORN3 MORN repeat containing 3 15489334,12477932 283385 NM_173855,AC084018,AC140062,CH471054,AY177732,BC057760,CR610648 NP_776254,EAW98271,EAW98272,EAW98273,EAW98274,AAO18675,AAH57760,Q6PF18 Hs.434154 MGC71497 protein-coding 735699 MOS v-mos Moloney murine sarcoma viral oncogene homolog 1580863 16401344,15489334,15188402,12477932,12022922,10439036,10376524,9552420,9008413,9001211,7540181,6287464,3000766 4342 NM_005372,AC107376,CH471068,J00119,BC069569,BC069590,BC106737,BC106738 NP_005363,EAW86773,AAA52029,AAH69569,AAH69590,AAI06738,AAI06739,P00540,Q3KPG9 Hs.533432 GDB:119396 MGC119962|MGC119963|MSV protein-coding 1604320 MOSC1 MOCO sulphurase C-terminal domain containing 1 16710414,15489334,14702039,12477932,11886751,9373149,8125298 64757 AK092439,AK094105,AK225416,AK290812,BC010619,CR606830,NM_022746,AL445423,AL606726,CH471100,AK000035,AK026043 BAB15333,BAC04286,BAF83501,AAH10619,Q5VT66,NP_073583,CAH72116,CAH72118,CAH72119,CAH71881,EAW93291 Hs.497816 FLJ22390|RP11-295M18.1 protein-coding 1606267 MOSC2 MOCO sulphurase C-terminal domain containing 2 16973608,16710414,16381901,15489336,15489334,14702039,12477932,11886751,11230166,11076863 54996 NM_017898,AL359353,AL606726,CH471100,AK000612,AL136931,BC010366,BC011973,BC015829,BC016859 NP_060368,CAH71878,CAH71879,CAH71880,EAW93292,EAW93293,EAW93294,EAW93295,BAA91287,CAB66865,AAH11973,AAH15829,AAH16859,Q969Z3,CAL37897,CAL38507 Hs.369042 FLJ20605|RP11-270A6.1 protein-coding 1347086 MOSPD1 motile sperm domain containing 1 737633,1580863 15772651,15533722,15489334,12477932 737633 56180 NM_019556,CH471107,CQ834430,Z83826,AL137163,BC005700,DQ323992 NP_062456,EAX11743,EAX11744,CAH05430,CAB53060,CAI42828,CAI42829,CAB69662,AAH05700,ABC88594,Q2I381,Q9UJG1,ABM82054,ABM85233 Hs.590789 DJ473B4 protein-coding 1350806 MOSPD2 motile sperm domain containing 2 737633,1580863 17081983,15533722,15489334,14702039,12477932 737633 158747 NM_152581,AC121340,AC140846,CH471074,AK057941,AK093075,AL834345,BC030641,CR615328 NP_689794,EAW98864,EAW98865,EAW98866,EAW98867,BAC04043,CAD39011,AAH30641,Q8NHP6,ABW03583 Hs.190043 MGC26706 protein-coding 1312722 MOSPD3 motile sperm domain containing 3 This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. 737633,1582660,1580863 15533722,15489334,12690205,12477932,9799793 737633,1582660 64598 NM_001040097,NM_001040098,NM_023948,NM_001040099,AC099394,AF053356,CH236956,CH471091,BC005042,BC009482,BC011653,BC028475,BG164079,BG707362,BQ923161,CR608430,CR609640 NP_001035186,NP_001035187,NP_076438,NP_001035188,AAC78797,AAC78798,AAC78799,EAL23824,EAW76511,EAW76512,EAW76513,EAW76514,AAH05042,AAH11653,O75425,Q6PJZ8 Hs.521086 CDS3 protein-coding 1352282 MOSPD4 motile sperm domain containing 4 404028 AK008233 1321654 MOV10 Mov10, Moloney leukemia virus 10, homolog (mouse) 1580863 17353931,17081983,16710414,16381901,16289642,15489336,15489334,14702039,12477932,11230166,11076863,10997877,9373149,8125298 4343 NM_020963,AL603832,CH471122,AB046851,AK023297,AK057353,AK074174,AK226011,AL832805,AL833353,BC002548,BC004499,BC009312,BC025339,BX647787 Q9HCE1,CAL37885,CAL38554,ABM83114,ABM87844,NP_066014,CAI14055,CAI14056,EAW56528,EAW56529,EAW56530,EAW56531,BAB13457,BAB14514,BAB85000,AAH02548,AAH04499,AAH09312,Q0JSG0,Q5JR04,Q9H8T8 Hs.514941 GDB:5189682 DKFZp667O1423|FLJ32791|KIAA1631|gb110 protein-coding 1345883 MOV10L1 Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. 1580863 11839499,11279525,15461802,14702039,12477932,10591208 54456 BC152539,CR456466,NM_018995,AL022328,AL034546,CH471138,AF285604,AK000033,AK090740,AK092675,AL133068,BC029552,BC042828,BC063837,BC150137 AAI52540,CAG30352,Q1MTR9,Q8IVP3,Q9BXT6,AAI39928,CAK54447,CAK54746,NP_061868,EAW73492,EAW73493,AAK31983,BAA90895,BAC03511,CAB61391,AAH29552,AAH42828,AAI50138 Hs.62880 GDB:10796374 DJ402G11.8|DKFZp434B0717|FLJ33421 protein-coding 1320700 MOXD1 monooxygenase, DBH-like 1 15337741,12975309,12477932,9751809 26002 NM_015529,AL023578,AL357034,CH471051,AI751100,AJ420565,AK074879,AK226054,AL080058,AY007239,AY359094,BC018756,CR624520 NP_056344,CAI19937,CAI19938,CAI15715,CAI15718,EAW48032,EAW48033,EAW48034,BAC11263,CAB45692,AAG09636,AAQ89452,AAH18756,Q6UVY6,ABM83090,ABM86284 Hs.6909 DKFZP564G202|MOX|PRO5780|dJ248E1.1 protein-coding 1641965 MOXD2 monooxygenase, DBH-like 2 pseudogene 17642472,15489334,12853948 642128 XR_018085,DY654652,DY655575,DY655576 Hs.641504 pseudo 1345261 MPD1 myopathy, distal 1 7847377 4347 GDB:230271 1317039 MPDU1 mannose-P-dolichol utilization defect 1 1298632,1580863 17353931,11733564,11179430,15862967,15342556,14702039,12477932,11733556,11042152,9653160,9373149,8663248,8125298 1298632 9526 AC016876,CH471108,CQ783898,AF038961,AF059752,AF258568,AK027742,AK055923,AK075299,AK225401,AK225432,BC001898,BM128375,NM_004870,BP325875,CR591406,CR600077,CR601665,CR609049,CR610474,CR618168,CR623337,DQ499597 NP_004861,EAW90158,EAW90159,EAW90160,EAW90161,EAW90162,EAW90163,CAF86914,AAC39875,AAG43121,AAG23771,BAB55334,BAB71046,AAH01898,ABF54968,O75352,Q1HDL3,Q8WY80,Q96K24,Q96N63,Q9BUU8,Q9H3L2 Hs.632249 GDB:9957246 CDGIF|FLJ14836|HBEBP2BPA|Lec35|PQLC5|SL15 protein-coding 737285 MPDZ multiple PDZ domain protein 1580863 16192269,17672918,17081983,16452527,15364909,15316081,15312654,15164053,14702039,14499480,12403818,11802782,11689568,11358867,11150294,11018522,11000240,10967549,9537516 8777 NM_003829,AL161449,AL162386,AL353639,CH471071,AB210041,AF093419,AJ001319,AK058011,AK074721,AK091945,AK098775,BC140793,BU621500,CR936648,CX782625 NP_003820,CAI40490,CAI40491,CAI40492,CAI40493,CAI40494,CAI40495,CAI41236,CAI41237,CAI41238,CAI41239,CAI41240,EAW58704,EAW58705,EAW58706,BAE06123,AAC61870,CAA04680,BAC05409,AAI40794,CAI56786,O75970,Q4LE30 Hs.169378 GDB:9956906 DKFZp781P216|FLJ25909|FLJ34626|FLJ90240|MUPP1 protein-coding 1348832 MPE malignant proliferation, eosinophil 4348 GDB:120191 736355 MPEG1 macrophage expressed gene 1 16344560,14702039,12477932,7888681 219972 NM_001039396,AP002358,CH471076,L20314,AK074166,AK095457,AK097211,AK097881,AW205154,BC104997,BC112230,DA946058 NP_001034485,EAW73839,AAA36324,BAB84992,AAI04998,AAI12231,Q14864,Q2M385 Hs.709459 MGC132657|MGC138435|MPG1 protein-coding 1348242 MPFD myopathy with fiber type disproportion 4349 GDB:439372 731894 MPG N-methylpurine-DNA glycosylase 1580863,1358139 10854423,17353931,1645538,10583946,18270339,18191412,17029639,16341674,16195237,15616553,15489334,15302935,15247209,14761960,14688248,14567703,14555760,12820404,12477932,12077143,12014652,11157797,11106395,9790531,8475094,8318735,1924375,1874728,16189514,10946229 4350 NM_001015054,NM_002434,NM_001015052,AE006462,AF499437,CH471112,DQ431198,Z69720,AY258284,BC014991,BG823448,BM796301,CR598824,CR600098,CR606356,CR612592,CR619346,L10752,M71215,M74905,M99626,S51033,X56528 NP_001015054,NP_002425,NP_001015052,AAK61213,AAM14628,EAW85870,EAW85871,EAW85872,ABD95906,CAA93540,CAI95610,AAP82229,AAH14991,AAF77073,AAA58369,AAA58627,AAB46421,AAB19537,CAA39875,P29372,Q1W6H1,Q5J9I4,ABM86838 Hs.459596 GDB:125265 AAG|APNG|CRA36.1|MDG|Mid1|PIG11|PIG16|anpg protein-coding 1318298 MPHOSPH1 M-phase phosphoprotein 1 1580863 11470801,15489334,15164054,14702039,12740395,12477932,11230166,10695267,8885239,8290587 9585 AY282407,AY739715,BC005221,BC012585,BC042130,BC046134,BC058913,BC093089,BC108688,CB130618,L16782,U93121,AL157389,AL157400,CH471066,AB033337,AK024959,AK025628,AK074336,AK290439,AL117496,AL137392,AY282406,NM_016195 AAP40330,AAP40331,AAW65984,AAH12585,AAH46134,AAH58913,AAH93089,AAI08689,AAC37542,AAB88727,Q96Q89,NP_057279,EAW50126,EAW50127,EAW50128,BAB69456,BAB15043,BAB15194,BAF83128,CAB55962,CAB70720 Hs.240 GDB:9957431 DKFZp434B0435|DKFZp434P0810|KRMP1|MPP-1|MPP1 protein-coding 1316939 MPHOSPH10 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein is thought to be part of the U3 small nucleolar ribonucleoprotein complex, which is involved in rRNA processing. 1580863 9450966,12655004,17081983,15635413,15489334,14702039,12477932,12429849,11790298,8885239 10199 NM_005791,AC007881,CH471053,AK056862,BC015158,BC041084,BC126389,CR590410,X98494 NP_005782,EAW99776,EAW99777,AAI26390,CAA67120,O00566 Hs.656208 GDB:9955383 MPP10|MPP10P protein-coding 1321401 MPHOSPH6 M-phase phosphoprotein 6 1580863 15231747,8885239,17081983,16396833,16169070,15635413,15489334,12477932,11719186,9373149,8125298,16189514 10200 NM_005792,AC138304,CH471114,AI831131,AK222667,AW175781,BC005242,BC011020,BC029395,BC031017,BU595100,BU622913,CR611170,X98263 NP_005783,EAW95516,EAW95517,EAW95518,BAD96387,AAH05242,AAH11020,AAH29395,AAH31017,CAA66916,Q53HB4,Q8NHT4,Q99547 Hs.344400 GDB:9955663 MPP|MPP-6|MPP6 protein-coding 1603305 MPHOSPH8 M-phase phosphoprotein 8 8885239,17081983,16583711,15489334,15057823,14702039,12559565,12477932 54737 NM_017520,AL354808,AL359457,CH471075,AJ293409,AK056785,AK092556,AL832864,BC003542,BC017322,BC046214,CR622896,X98259 NP_059990,CAI41000,CAI41002,EAX08228,EAX08229,EAX08230,BAB71284,CAI46172,AAH03542,AAH46214,CAA66912,Q99549 Hs.269654 FLJ35237|HSMPP8|RP11-523H24.1|TWA3|mpp8 protein-coding 1313543 MPHOSPH9 M-phase phosphoprotein 9 1580863 8885239,14702039 10198 NM_022782,AC073857,CH471054,AK023016,AK091181,AK096541,AL096751,BC130440,BU070541,BX092492,CR610469,X98258 NP_073619,EAW98388,EAW98389,EAW98390,EAW98391,EAW98392,EAW98393,EAW98394,BAB14359,AAI30441,CAA66911,Q99550 Hs.577404 GDB:11504515 DKFZp434J034|FLJ12954|MPP-9|MPP9 protein-coding 1349436 MPI mannose phosphate isomerase Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. 1600452,1580863 8307007,16488169,15489334,14702039,12477932,12414827,12357336,12122025,11350186,11134235,9585601,9525984,9451038,9373149,8125298,1222586,341373,10980531 1600452 4351 NM_002435,AC125435,AF227218,CH471136,AF504648,AK096520,AK225149,AK292374,BC017351,BC046357,BX648475,X76057 NP_002426,AAF37697,EAW99295,EAW99296,EAW99297,EAW99298,AAM28199,BAF85063,AAH17351,AAH46357,CAA53657,P34949,Q8NHZ6 Hs.75694 GDB:119397 FLJ39201|PMI|PMI1 protein-coding 1322330 MPL myeloproliferative leukemia virus oncogene In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. 1600454,1580863 8020956,18464114,18451306,18297515,18174381,17920755,17920754,17709604,17666371,17658515,17644747,17540852,17507998,17408465,17408398,17379761,17157161,17107350,17052978,16868251,16834459,16470591,16454716,16088917,15951300,15899890,15741216,15647951,15452260,15307100,15269348,15210714,14995067,14764528,12200367,12145691,12091373,12010817,11961237,11784712,11133753,11071383,11054408,10979953,10971406,10918061,10517496,10391209,10224114,10077649,9766811,9122198,8639837,8541543,7534285,2550356,2175677,1608974 1600454 4352 NM_005373,NG_007525,AL139289,CH471059,U68159,U68160,U68161,U68162,DQ234353,M90102,M90103 NP_005364,EAX07103,EAX07104,EAX07105,AAB08424,AAB08425,ABB29982,AAA69971,AAA69972,P40238,Q308M1,Q5JUY5,Q5JUZ0,AAI40299,AAI53093 Hs.82906 GDB:125371 C-MPL|CD110|MPLV|TPOR protein-coding 1606403 MPN2 marapsin 2 12838346 339501 NM_183062,AL356323,AL731702,CH471098,AA398170,BC130400,BN000131 NP_898885,EAW69820,AAI30401,CAD67593,A1L453 Hs.97604 MGC163272 protein-coding 1605915 MPND MPN domain containing 12477932 84954 NM_032868,AC007292,CH471139,AK027887,BC032652,CR600604,CR605933,CR610197,CR613172,CR618730 NP_116257,AAD24592,AAD24593,EAW69230,EAW69231,EAW69232,EAW69233,BAB55432,AAH32652,Q8N594 Hs.321689 FLJ14981 protein-coding 1346384 MPO myeloperoxidase Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of netrophils. 1358499,1580863 18205184,17980933,17925548,17922231,17896805,17885617,17875305,17869258,17855424,17767014,17726014,17704068,17701359,17650507,17613595,17595772,17582430,17549373,17521322,17483704,17479404,17451207,17440118,17438335,18214807,17428572,17424838,17381162,17355643,17337886,17304047,17259657,17209550,17178637,17161406,17159117,17149600,17145829,17119198,17042493,17017121,16956579,16901848,16883063,16844322,16829688,16758302,16740002,16732739,16641309,16606792,16543247,16504169,16497665,16484808,16476719,16430221,16385446,16335952,16326702,16297214,16289072,16267254,16221222,16195240,16170238,16157195,16148002,16107886,16084535,15996936,15967795,15911707,15901995,15894800,15885363,2829220,10777476,10801811,8621627,2903767,18452102,18447907,18344624,18340529,18322643,18296681,18280811,18271379,18258609,18237195,15884126,15850382,15829318,15734083,15718477,15714076,15705913,15661916,15600254,15538122,15536330,15507771,15507770,15507769,15507760,15507759,15507754,15507753,15507752,15504976,15492293,15379210,15350145,15331175,15304260,15299090,15255951,15222689,15203186,15199549,15196853,15184258,15159316,15108282,15068388,15031357,15023809,15006595,14972011,14761515,14730210,14729580,14716779,14668325,14646692,14626895,14617020,14580687,12969520,12952835,12950060,12946561,12915675,12861032,12818404,12810834,12800195,12792137,12782337,12773517,12729191,12707270,12694338,12606047,12565898,12515618,12496043,12496042,12460800,12432558,12397651,12393699,12355548,12209361,12164325,12135010,12111688,12089442,12057865,12052532,12027420,11986950,11981455,11960308,11943609,11895912,11861298,11840286,11813987,11811524,11794452,11774269,11705390,11434421,11423389,11179831,11161635,11147929,11090610,11087769,10828600,10766826,9637725,9354683,9175709,9097926,8718890,8530055,8390465,8383257,8142659,8078496,8037771,7904599,7840679,7809065,7530510,3654979,3031585,3029127,2884926,2820530,2552418,2444596,2154223,1703177,1334087,1320128 1358499 4353 J02694,M19507,S56200,X04876,BC130476,NM_000250,A08802,AC004687,CH471109,D14466,DQ088846,M17176,M19508,X15377,X64647,Z37728 AAI30477,AAA59896,AAA59863,AAB25582,CAA28565,P05164,Q16771,Q2V4S3,Q9UCL7,CAA85783,NP_000241,CAA00809,EAW94470,EAW94471,EAW94472,EAW94473,BAA03362,AAY68218,AAA60346,AAA59864,AAA59865,CAA33438,CAA45918 Hs.458272 GDB:120192 protein-coding 1347904 MPP1 membrane protein, palmitoylated 1, 55kDa Palmitoylated membrane protein 1 is the prototype of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 1 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. 1580863 1310897,1713685,11256614,17584769,16741958,16189514,16169070,15489334,14702039,12477932,9373149,9305870,8824805,8125298,7822301,1301163 4354 NM_002436,AC109993,CH471172,M87059,U39611,AK093702,AK223396,AK290246,AY423731,AY634686,BC002392,CR605122,CR606052,CR610475,CR612951,CR624495,M64925 NP_002427,EAW72655,EAW72656,EAW72657,EAW72658,EAW72659,EAW72660,AAA60060,AAD14835,BAD97116,BAF82935,AAS00494,AAV35469,AAH02392,AAA60059,Q00013,Q2TSB6,Q53F93,Q5J7V5,ABM82173,ABM85498 Hs.496984 GDB:131663 AAG12|DXS552|DXS552E|EMP55|MRG1|PEMP protein-coding 1346408 MPP2 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. 1580863 7590743,8824795,12493773,16913846,15489334,12477932,11230166,9373149,8125298 4355 NM_005374,AC007993,CH471178,AK223560,AL136554,BC030287,CR612825,CR936598,CR936730 NP_005365,EAW51653,EAW51654,EAW51655,EAW51656,BAD97280,CAB66489,AAH30287,CAI56746,Q14168,ABM82603,ABM85788 Hs.514208 GDB:567459 DKFZp686A06252|DKFZp686J2189|DKFZp761D0712|DLG2 protein-coding 1343815 MPP3 membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. 1580863 8824795,12493773,16519681,16344560,16169070,13679854,12477932,11707406 4356 NR_003562,NM_001932,AC003098,CH471178,AB209232,AM050144,AM050145,BC025743,BC035833,BC047017,BC056865,DA773958,DB357996,U37707 NP_001923,EAW51661,EAW51662,EAW51663,EAW51664,EAW51665,EAW51666,BAD92469,CAJ18313,CAJ18315,AAH25743,AAH47017,AAH56865,AAB36964,Q05CH2,Q13368,Q59G77 Hs.396566 GDB:567461 DLG3 protein-coding 733195 MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) 1580863 15914641,15558731,14702039,12477932,12384283,11586298,11414766 58538 NM_033066,AC007279,CH471063,AB053302,AB053303,AB053304,AF316032,AK131208,BC132785,BX647162,BX648531 NP_149055,AAY15057,EAW70285,EAW70286,EAW70287,EAW70288,EAW70289,EAW70290,BAB69012,BAB69013,AAK71862,BAD18399,AAI32786,Q53TT3,Q96JB8 Hs.63085 GDB:11499645 ALS2CR5|DLG6 protein-coding 1317631 MPP5 membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains (Tseng et al., 2001 [PubMed 11311936]). MPP5 is a member of the p55-like MAGUK subfamily.[supplied by OMIM] 1580863 11256614,17920587,16678097,16381901,15914641,15863617,15558731,15489336,15489334,15475968,14702039,12771187,12545177,12527193,12477932,11927608,11311936,11230166,11076863,10753959,9110174,8619474 64398 NM_022474,AL135978,AL139785,CH471061,AF131764,AI245706,AK022677,AK098373,AK291240,AL832326,AL832578,AL832936,BC037966,BC053366,BC095485,BC129933,CR605794 NP_071919,EAW80930,BAB14172,BAC05295,BAF83929,CAD38620,CAD89937,CAH56281,AAH53366,AAH95485,AAI29934,Q0JUS4,Q0JVI3,Q4VBP4,Q658X5,Q8N3R9,CAL37477,CAL37737 Hs.652312 GDB:11508419 FLJ12615|PALS1 protein-coding 1323497 MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM] 1580863 11311936,16192290,15592455,15489334,15231747,15024025,12853948,12690205,12477932,11812149,11719186,11230166,11110791,10753959 51678 NM_016447,AC005084,CH236948,CH471073,AF162130,AL136836,BC012034,BC023638,CR605092 NP_057531,AAQ96847,EAL24247,EAW93808,EAW93809,EAW93810,EAW93811,AAD45919,CAB66770,AAH23638,Q9NZW5,ABM83221,ABM86421 Hs.533355 GDB:11506253 PALS2|VAM-1|VAM1|p55T protein-coding 1344792 MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) Membrane-associated guanylate kinases (MAGUKs) are important adaptor proteins involved in the assembly of protein complexes at sites of cell-cell contact. They are found in synapses, adherens junctions, and tight junctions. All MAGUKs contain at least 1 PDZ domain, an SH3 domain, and a GUK domain, and many contain 1 or 2 L27 domains, which are involved in multimerization of MAGUKs. MPP7 belongs to the p55 stardust subfamily of MAGUKs, which is named for a Drosophila gene required for establishment of cell polarity in the developing fly embryo (Bohl et al., 2007 [PubMed 17237226]).[supplied by OMIM] 737633 17332497,17237226,14719143,14702039,12477932 737633 143098 NM_173496,AL355501,AL390866,AL391423,CH471072,AK057360,AK130972,AL832380,BC038105,CR623672 NP_775767,CAI13640,CAI13641,CAI12708,CAI17345,EAW86045,EAW86046,EAW86047,AAH38105,Q5T2T1 Hs.499159 FLJ32798|RP11-218D6.5 protein-coding 1319383 MPPE1 metallophosphoesterase 1 16344560,15252450,14702039,12477932,11978971,9373149,8125298 65258 NM_023075,AF363483,AP001269,CH471113,AF289560,AF363484,AK021647,AK023052,AK054639,AK223450,AL833636,BC002877,BC073994,BG701552,CR591893,CR594517,CR594849,CR595199,CR611565,CR623066,DA581276,DQ786245 NP_075563,AAM00277,AAM00278,EAX01561,EAX01562,EAX01563,EAX01564,EAX01565,EAX01566,EAX01567,EAX01568,EAX01569,EAX01570,EAX01571,EAX01572,AAL55744,AAM00279,BAB13863,BAB14378,BAD97170,AAH02877,AAH73994,Q53F39 Hs.702265 protein-coding 1344313 MPPE1P metallophosphoesterase 1 pseudogene 386673 1317908 MPPED1 metallophosphoesterase domain containing 1 16344560,15489334,12477932,10591208,9266672,8666403 758 NM_001044370,AL049708,AL096759,AL096761,BX546033,CH471138,CR377231,CU137653,Z82172,AK289774,AK290541,BC028035,CT841512,DA773758,U84894 NP_001037835,CAQ08121,CAQ08089,EAW73305,EAW73306,EAW73307,CAQ06857,BAF82463,BAF83230,AAH28035,CAJ86442,AAC51673,O15442,Q20WK9,Q5TF17,Q6IPU1,CAK54643,CAK54942 Hs.592198 GDB:9835676 239AB|C22orf1|FAM1A|MGC88045 chromosome 22 open reading frame 1 protein-coding 1347972 MPPED2 metallophosphoesterase domain containing 2 12477932,9266672,8666403,7527372,15489334 744 NM_001584,AL136088,AL353699,AL356240,CH471064,AB209163,BC031582,U57911 NP_001575,EAW68256,EAW68257,BAD92400,AAH31582,AAC50564,Q15777,Q59GE6 Hs.289795 GDB:9835673 239FB|C11orf8|D11S302E|FAM1B|Hs.46638|dJ1024C24.1|dJ873F21.1 protein-coding 735977 MPST mercaptopyruvate sulfurtransferase This gene encodes a protein which can function as a monomer or as a disulfide-linked homodimer and which catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cyanide degradation and in thiosulfate biosynthesis. The encoded cytoplasmic protein is a member of the rhodanese family but is not rhodanese itself, which is a mitochondrial protein. Alternatively spliced transcript variants encoding the same protein have been identified. 1580863 9070219,16545926,15489334,15461802,14702039,12477932,10591208,1953758 4357 NM_001013440,NM_021126,NM_001013436,CH471095,DQ211531,DQ211532,DQ211533,Z73420,AB208824,AK055733,AW778940,BC003508,BC009450,BC016737,BC018717,BI463699,BI597227,BQ072744,BT019636,CR456523,CR541712,CR593951,CR594315,CR595674,CR597036,CR598953,CR601092,CR601393,CR608282,CR608639,CR608956,CR610183,CR611886,CR614029,CR614224,CR614516,CR615675,CR619501,CR619875,CR621116,CR622714,X59434 NP_001013458,NP_066949,NP_001013454,EAW60133,EAW60134,EAW60135,ABB16334,ABB16335,ABB16336,CAA97763,BAD92061,AAH03508,AAH16737,AAH18717,AAV38442,CAG30409,CAG46513,CAA42060,P25325,Q2VEU0,Q2VEU1,Q59HD5,Q6FHN9,Q96GI4,CAK54554,CAK54853 Hs.248267 GDB:6175923 MGC24539|MST|TST2 protein-coding 1353525 MPV17 MpV17 mitochondrial inner membrane protein This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). 1580863 16582910,17694548,16909392,16631601,16582907,15815621,15489334,14702039,12477932,12471025,8427063,8281143,7564095 4358 AAB25210 NM_002437,AC013413,AF038633,CH471053,CQ868548,S68430,AF088036,AK093305,AK123373,BC001115,BC016289,BG714998,BI602840,CR604090,CR607626,X76538 CAA54047,AAB25210,P39210,Q9UPC7,ABM83205,ABM86405,NP_002428,AAY24298,AAC24205,EAX00597,EAX00598,EAX00599,EAX00600,EAX00601,EAX00602,EAX00603,EAX00604,CAH33966,AAD14014,AAH01115,AAH16289 Hs.75659 GDB:306170 SYM1 mpv17 transgene, murine homolog, glomerulosclerosis protein-coding 1606418 MPV17L MPV17 mitochondrial membrane protein-like 16631601,14702039,12477932 255027 NM_173803,AC137803,AC140504,CH471226,AK096918,BC061514,DQ004255,DQ004256 NP_776164,EAW53914,EAW53915,BAC04895,AAH61514,AAY58892,AAY58893,Q2QL34 Hs.401798 FLJ39599|MGC70356|MLPH1|MLPH2 protein-coding 737128 MPZ myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) Myelin protein-zero is the major structural protein of peripheral myelin.[supplied by OMIM] 1358504,1358513,1580863 7693129,7506095,7693130,18209201,17940173,17825553,17663472,17602703,17143884,17142269,17030746,16856127,16775239,16543539,16488608,16414078,16398147,16279991,16198109,16162811,15729519,15596778,15555916,15489334,15326256,15261887,15249646,15241803,15184631,15159512,15050444,15036333,14638973,12953275,12948789,12940837,12911457,12845552,12497641,12477932,12477701,12402337,12221176,12211648,12207932,11835375,11673479,11545686,11445635,11438991,11437164,11080237,10965800,10923043,10737979,10553995,10406984,10329755,10214757,10212299,10071056,9888385,9633821,9595994,9222756,9217235,9187667,8990016,8844219,8835320,8816708,8797476,8664899,8630052,7762451,7694726,7688964,7550231,7530550,7530295,7527371,7518101,7511317,7509228,7505151,7504284,7503936,6099985,3467805,1719967,16189514 1358504,1358513 4359 NM_000530,AL592295,CH471121,D14720,L24893,U10018,Z31718,BC006491,BT006765,CR590470,D10537,S66705 NP_000521,CAH70270,EAW52605,BAA03540,AAA20656,AAA18981,CAA83513,AAH06491,AAP35411,BAA01395,AAB28708,P25189,Q14902,Q5VTH4,ABM86811,ABW03829,EAW52606 Hs.591486 GDB:125266 CHM|CMT1|CMT1B|CMT2I|CMT2J|CMT4E|CMTDI3|DSS|HMSNIB|MPP|P0 myelin protein zero protein-coding 1343477 MPZL1 myelin protein zero-like 1 1580863 9792637,15231747,10681522,16710414,16702974,16303743,15588985,15489334,12975309,12684038,12477932,12410637,12107410,12075424,11751924,16189514 9019 CR542160,CR604001,NM_024569,AF478448,AL356532,CH471067,Z99943,AF087020,AF092424,AF092425,AF095726,AF095727,AF181660,AF239756,AF478447,AI635633,AK024700,AK075334,AK291249,AL035302,AL035308,AY359019,BC007881,BC019890,BE616859,BF528837,BT019542,BU155202,CA397666,CD556632,CD557072,NM_003953 CAG46957,O95297,Q5U0H8,Q8WUP4,Q9H7C6,Q9UEL4,Q9UEL6,NP_003944,NP_078845,AAO14646,AAO14647,EAW90800,EAW90801,EAW90802,EAW90803,CAI20143,CAI20144,AAC72231,AAD55346,AAD55347,AAF00083,AAF00084,AAF00621,AAF63499,AAO14645,BAB14967,BAF83938,CAA22907,CAA22913,AAQ89378,AAH07881,AAH19890,AAV38349 Hs.493919 GDB:9954771 FLJ21047|PZR|PZR1b|PZRa|PZRb protein-coding 1316244 MPZL2 myelin protein zero-like 2 Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. 1580863 9585423,15489334,12975309,12477932 10205 NM_005797,NM_144765,AP002800,CH471065,AF030455,AF275945,AF304447,AK290326,AY359061,BC017774,CR590568,CR626217 NP_005788,NP_658911,EAW67358,EAW67359,AAC39762,AAF87240,AAG23183,BAF83015,AAQ89420,AAH17774,O60487 Hs.116651 GDB:9955678 EVA|EVA1 protein-coding 1601712 MPZL3 myelin protein zero-like 3 17273165,15489334,15340161,14702039,12975309,12477932 196264 NM_198275,AP002800,CH471065,AK095399,AK289390,AY358626,BC008810,BC031223,BC113586 NP_938016,EAW67357,BAF82079,AAQ88989,AAI13587,Q6UWV2 Hs.15396 protein-coding 1343564 MR1 major histocompatibility complex, class I-related 1580863 7624800,18068122,16632198,12794138,12477932,11019920,9784382,9780177,9373149,9325151,8125298 3140 NM_001531,AF039526,AF073485,AF223407,AL356267,CH471067,AF010446,AF010447,AF031469,AJ249778,AK222910,AK290374,BC012485,CR602405,U22963 NP_001522,AAD02172,AAC72900,AAF40170,EAW91095,EAW91096,EAW91097,EAW91098,AAD01442,AAD01443,AAD01933,CAB77667,Q9TQK3,BAD96630,BAF83063,AAH12485,AAC50174,O97985,O97986,Q53GM1,Q95460,Q95HB8,Q9MY23,Q9TQB3,Q9TQB9 Hs.101840 HLALS protein-coding 1603024 MRAP melanocortin 2 receptor accessory protein 18077336,17893271,17456795,15654338,15489334,12477932,12054497,12036298 56246 NM_206898,NM_178817,AP000266,CH471079,AF454915,AF454916,AF483549,AY079152,BC062721 NP_996781,NP_848932,EAX09878,EAX09879,EAX09880,AAL51048,AAL51049,AAL86908,AAL80042,AAH62721,Q8TCY5 Hs.584940 GDB:11504772 B27|C21orf61|FALP|FGD2|GCCD2 protein-coding 733433 MRAS muscle RAS oncogene homolog Members of the RAS superfamily of GTP-binding proteins, which includes MRAS, are membrane-anchored, intracellular signal transducers responsible for a variety of normal cellular functions. They are oncogenically activated in a significant fraction of tumors.[supplied by OMIM] 1580863 10934204,10446149,9395237,17538012,17143285,15489334,15031288,14702039,12477932,12138204,11857081,11524421,10803462,10498616,10477695,9400994 22808 NM_012219,NM_001085049,AC022337,AC022497,CH471052,AF022080,AF043938,AF493918,AK056337,AK091633,AK123833,AK124954,BC017733,BC035939,BC047101,BC047690,BI546150,BT020057,CR542067,CR590782 NP_036351,NP_001078518,EAW79068,EAW79069,EAW79070,EAW79071,AAC52085,AAD02287,AAM12632,AAH17733,AAV38860,CAG46864,O14807,Q6FGP0,Q8WVM9,AAI56846 Hs.527021 GDB:9957141 FLJ42964|M-RAs|R-RAS3|RRAS3 muscle and microspikes ras protein-coding 1319655 MRC1 mannose receptor, C type 1 The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment. This gene is in close proximity to MRC1L1. The gene loci including this gene, MRC1L1, as well as LOC340843 and LOC340893, consist of two nearly identical, tandemly linked genomic regions, which are thought to be a part of a duplicated region. 1580863 2373685,1294118,18279703,17502612,17360361,17020928,16203868,16000387,15767290,15190005,15155616,15042510,14568928,12477932,12368450,11841552,11715017,11120831,10779515,9677318,9038177,8940052,8001982,3611070,2258707,1730714,17077296,16672549,16547227,15955449,15047828,16615932,15637102 4360 AC069023,AL928729,M93192,M93193,M93194,M93195,M93196,M93197,M93198,M93199,M93200,M93201,M93202,M93203,M93204,M93205,M93206,M93207,M93208,M93209,M93210,M93211,M93212,M93213,M93214,M93215,M93216,NM_002438,M93217,M93218,M93219,M93220,M93221,BC016003,BU198859,DQ663787,J05550,X55635 NP_002429,CAH70733,AAA60389,ABG47462,AAA59868,P22897,Q0Z8D6,Q5VSJ2 Hs.75182 GDB:133759 CD206|CLEC13D protein-coding 1345928 MRC1L1 mannose receptor, C type 1-like 1 This gene encodes a type I membrane receptor protein highly related to the mannose receptor C type 1 protein (MRC1). The two genes are located near each other on chromosome 10 in a region thought to represent a segmental duplication. 12477932 414308 NM_001009567,AL139238,AL928580,BX255924,BC142642,CR601686 NP_001009567,CAH70872,CAH71176,CAI15339,AAI42643,Q5VSK2 Hs.461247 CLEC13DL|bA541I19.1 protein-coding 1320297 MRC2 mannose receptor, C type 2 1580863 17189524,14702039,14684825,12972549,12952933,12668656,12645947,12477932,12399458,12244146,12068012,11903048,11120831,10683150,10636902,9734811,8702911,16615932 9902 NM_006039,AC080038,CH471109,AB014609,AF107292,AF134838,AK093230,AY429551,BC032763,BC146647,BC150212,BX111813,CR623977 AAD30280,NP_006030,EAW94341,EAW94342,BAA31684,AAF14192,AAI46648,AAI50213,Q9UBG0 Hs.7835 GDB:9958468 CD280|CLEC13E|ENDO180|FLJ35911|KIAA0709|UPARAP protein-coding 1606574 MRCL3 myosin regulatory light chain MRCL3 17353931,17719568,15489334,12477932,11942626,9373149,8125298,2216787,14743216 10627 NM_006471,AP005329,CH471113,AK222569,AK291145,BC016372,BC031972,BC032748,CR615662,CR620560,D82059,DQ185044,X54304 NP_006462,EAX01678,EAX01679,EAX01680,EAX01681,BAD96289,BAF83834,AAH16372,AAH31972,AAH32748,BAB88919,ABD14424,CAA38201,P19105,Q2F834,Q53HL1,Q53X45,ABM83740,ABM87059 Hs.190086 GDB:9958056 MLCB|MRLC3 protein-coding 1344886 MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 1580863,1578504 9651580,10802669,16327781,16254336,16163361,16051665,15970667,15937485,15864295,15790808,15723659,15653682,15574463,15489334,15456891,15337312,15319296,15302935,15269180,15234984,15195510,15180989,15048091,15047855,15026416,14702039,16417627,14684699,14657032,12660252,12607005,12607003,12477932,12419185,12124628,11877377,11850399,11371508,11371344,11238951,11196167,11060040,10888888,10783165,10612394,10608806,10508516,10426999,8756642,14519663,15100233,11504724,12679336,11353843,16189514,15806145,15758953,14690447,9590181,9705271,8530104,9931460,18373977,18234271,18177684,18025084,17932350,17898048,17715134,17700070,17694070,17693401,17591703,17534377,17526493,17477953,17349953,17202845,17169801,17081983,16948520,16905549,16788144,16431910 1578504 4361 AF022778,AF073362,AK095388,BC005241,BC017823,BC063458,BF574168,BT006730,CR600174,U37359,NM_005590,NM_005591,NG_007261,AF303395,AP000765,AP000786,AY584241,CH471065 EAW66934,AAD10197,AAC36249,AAH05241,AAH17823,AAH63458,AAP35376,AAC78721,P49959,Q05D78,Q9BS79,EAW66933,NP_005581,NP_005582,AAK18790,AAS79320,EAW66930,EAW66931,EAW66932 Hs.192649 GDB:568485 ATLD|HNGS1|MRE11|MRE11B protein-coding 1347395 MRE11B MRE11 meiotic recombination 11 homolog B (S. cerevisiae) 11371508,9931460,9651580,8530104 4362 NG_001157,AC091607,AC125607,AF307006 GDB:9032974 hMRE11B pseudo 1604338 MREG melanoregulin 15550542,14702039,12477932 55686 BC032747,BC082990,BQ928130,CA843296,CR604344,CX781801,NM_018000,AC010686,AC093382,CH471063,AF068290,AK000978 BAA91453,AAH32747,AAH82990,Q8N565,NP_060470,AAY14656,AAY14719,EAW70554,EAW70555,EAW70556,AAF65179 Hs.281680,Hs.693918 DSU|FLJ10116|MGC90296|WDT2 protein-coding 1606988 MRFAP1 Mof4 family associated protein 1 11500496,14506250,17353931,17008723,15367658,14702039,12477932,12397079 93621 NM_033296,AC093323,AF116272,CH471131,AK057736,AK074496,AK123360,AK129651,BC022797,CR457144,CR590171,CR591005,CR593285,CR598023,CR598654,CR603436,CR610015,CR610581,CR611057,CR612817,CR614661,CR614739,CR614780,CR615114,CR616052,CR616281,CR616595,CR617575,CR618277,CR619436,CR619943,CR620474,CR620538,CR624612,CR624889 EAW82386,NP_150638,AAD38498,EAW82387,AAH22797,CAG33425,Q9Y605,ABM83719,ABM87039 Hs.701277,Hs.705528 PAM14|PGR1 protein-coding 1605595 MRFAP1L1 Morf4 family associated protein 1-like 1 16189514,12477932 114932 NM_152301,AC093323,CH471131,AF155654,NM_203462,AF258591,BC008087,BC066897,BX397546,CR590278,CR592386,CR592660,CR595817,CR597377,CR598333,CR600302,CR602726,CR603188,CR607295,CR618665,CR623294,W79582 NP_982287,NP_689514,EAW82383,AAF67011,AAG23794,AAH08087,AAH66897,Q96HT8 Hs.593159,Hs.695408 MGC9651|PP784 protein-coding 1344076 MRGPRD MAS-related GPR, member D 737883 15037633,12909716,12044878,11551509 737883 116512 NM_198923,AB065786,AB083627,AP000808,AB154410,AY427820 NP_944605,BAC06005,BAB89340,BAD20638,AAR05120,Q8TDS7,AAI46428,AAI56661 Hs.527802 MRGD|TGR7 protein-coding 1344531 MRGPRE MAS-related GPR, member E 15489334,12679517,12477932,11551509 116534 NM_001039165,AC109309,AY255572,BC104889,BC112203,DC309261 NP_001034254,AAO85084,AAI04890,AAI12204,Q86SM8 Hs.706565 GPR167|MGC138408|MRGE protein-coding 1346995 MRGPRF MAS-related GPR, member F 737633,1580863 16303743,15489334,15342556,14702039,12477932,2109324 737633 219928 NM_145015,NM_001098515,AB065785,AP003071,CH471076,CS051435,AK075450,AK075492,AK098317,AK122669,AK131068,AL049451,BC016964,BP376260,CR619015,AA936120 NP_659452,NP_001091985,BAC45261,EAW74730,EAW74731,EAW74732,CAI72211,BAC11628,BAC11649,BAC05284,AAH16964,Q8IXE2,Q8N2G2,Q8N7J6,Q96AM1 Hs.118513,Hs.602397 GPR140|GPR168|MGC21621|RTA|mrgF protein-coding 1351155 MRGPRG MAS-related GPR, member G 15164054,12679517 386746 XM_001126608,XM_001130307,AC109309,AY255583 XP_001126608,XP_001130307,AAO85095,Q86SM5 Hs.647287 GPR169|MRGG protein-coding 1605552 MRGPRX1 MAS-related GPR, member X1 15489334,12477932,12044878,11850634,11551509,15782186 259249 NM_147199,AB065846,AB083628,AC023078,AF474989,AF474990,AY042213,CH471064,BC096835 NP_671732,BAC06064,BAB89341,AAL86880,AAL86881,AAK91804,EAW68360,AAH96835,Q96LB2 Hs.350565 GPCR|MRGX1|SNSR4 protein-coding 1603280 MRGPRX2 MAS-related GPR, member X2 12915402,15862286,15489334,12477932,12044878,11551509 117194 NM_054030,AB065811,AB083626,AC027026,AY042214,AY651130,AY651131,AY651132,AY651133,AY651134,CH471064,AY845176,BC063450,AY651148,AY651149,AY651150,AY651151,AY651152,AY651153,AY651154,AY651155,AY651156,AY651157,AY651158,AY651159,AY651160,AY651161,AY845175,AY651135,AY651136,AY651137,AY651138,AY651139,AY651140,AY651141,AY651142,AY651143,AY651144,AY651145,AY651146,AY651147 NP_473371,BAC06030,BAB89339,AAK91805,AAW70043,AAW70044,AAW70045,AAW70046,AAW70083,AAW70082,EAW68359,AAH63450,Q96LB1,AAW70060,AAW70061,AAW70062,AAW70063,AAW70064,AAW70065,AAW70066,AAW70067,AAW70068,AAW70069,AAW70070,AAW70071,AAW70072,AAW70073,AAW70074,AAW70047,AAW70048,AAW70049,AAW70050,AAW70051,AAW70052,AAW70053,AAW70054,AAW70055,AAW70056,AAW70057,AAW70058,AAW70059 Hs.350566 MRGX2 protein-coding 1603279 MRGPRX3 MAS-related GPR, member X3 15809047,15489334,12477932,11850634,11551509 117195 NM_054031,AC090099,AF474987,AF474988,AY042215,CH471064,BC067292 NP_473372,AAL86878,AAL86879,AAK91806,EAW68417,AAH67292,Q96LB0 Hs.380177 GPCR|MRGX3|SNSR1 protein-coding 1603278 MRGPRX4 MAS-related GPR, member X4 15489334,12477932,11850634,11551509 117196 NM_054032,AC090099,AF474991,AF474992,AY042216,CH471064,BC095509,BC107099,BC107100 NP_473373,AAL86882,AAL86883,AAK91807,EAW68416,AAH95509,AAI07100,AAI07101,Q96LA9 Hs.632138 GPCR|MGC129753|MGC129754|MRGX4|SNSR6 protein-coding 1601728 MRLC2 myosin regulatory light chain MRLC2 The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM] 15946647,15188056,12477932,11942626,10593918 103910 NM_033546,AP005329,CH471113,AK291726,AY320408,BC004994,CR590117,CR594051,CR611530,CR613012,CR618334,CR620543,D50372,D82058,U26162 NP_291024,EAX01675,EAX01676,EAX01677,BAF84415,AAP73808,AAH04994,BAA23323,BAB88918,AAA67367,O14950,Q13182 Hs.464472 MLC-B protein-coding 1605341 MRM1 mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 15489334,14702039,12477932,9373149 79922 NM_024864,AC003042,CH471199,AK026231,AK225449,AK292307,BC009416,BC072411,CB137408,CR457357,CR601982,CR607365,CR616141,CR618401,CR622648 NP_079140,EAW57571,EAW57572,BAB15401,BAF84996,AAH09416,AAH72411,CAG33638,Q6IN84 Hs.194864 FLJ22578 protein-coding 1342837 MRO maestro This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. 737633,1580863 16344560,15489334,14702039,12889070,12477932,11401430 737633 83876 NM_031939,NM_001127174,NM_001127175,NM_001127176,AC015864,CH471096,AB042647,AI479272,AI829586,AK054702,AL705398,BC029860,DA416200,DB473056,DC333169,DC403805 NP_114145,NP_001120646,NP_001120647,NP_001120648,EAW62978,EAW62979,BAB40981,BAB70797,AAH29860,Q9BYG7 Hs.131072 B29|C18orf3|FLJ30140 protein-coding 1343975 MROS Melkersson-Rosenthal syndrome 7923865 8011 GDB:9954430 1321750 MRP63 mitochondrial ribosomal protein 63 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. 15489334,12706105,12477932,11543634,11402041,8889548,15525513 78988 AW445203,BC000002,BC023616,BC068492,BG030730,BG773624,BG778041,BI601227,CF890784,NM_024026,AL158032,CH471075,CS072369,AB049957 BAB41010,AAH00002,AAH23616,AAH68492,Q9BQC6,ABM83014,ABM86207,NP_076931,EAX08296,EAX08297,EAX08298,CAI93507 Hs.458367 GDB:11503316 MGC3243|bMRP63 protein-coding 1345839 MRP63P1 mitochondrial ribosomal protein 63 pseudogene 1 12706105 126581 NG_002827,AL121999,AY135236 pseudo 1342568 MRP63P10 mitochondrial ribosomal protein 63 pseudogene 10 12706105 347587 NG_002837,AC006987,AY135245 pseudo 1343179 MRP63P2 mitochondrial ribosomal protein 63 pseudogene 2 12706105 359729 NG_002845,AL451054,AY135237 pseudo 1352482 MRP63P3 mitochondrial ribosomal protein 63 pseudogene 3 12706105 359730 NG_002846,AC094020,AY135238 pseudo 1347527 MRP63P6 mitochondrial ribosomal protein 63 pseudogene 6 12706105 134490 NG_002829,AC113414,AY135241 pseudo 1345049 MRP63P7 mitochondrial ribosomal protein 63 pseudogene 7 12706105 359731 NG_002847,AC016877,AY135242 pseudo 1354513 MRP63P8 mitochondrial ribosomal protein 63 pseudogene 8 12706105 359732 NG_002848,AL121594,AY135243 pseudo 1353636 MRP63P9 mitochondrial ribosomal protein 63 pseudogene 9 12706105 359733 NG_002849,AL358334,AY135244 pseudo 1315701 MRPL1 mitochondrial ribosomal protein L1 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. 1580863 12706105,12477932,11543634,11279069,11042152,8889548,16368877,15815621,15489334,14702039 65008 NM_020236,AC112225,AC114801,CH471057,AB049474,AF212225,AK024791,AK315600,BC014356,BC015109,BC017765,BC032595,BU675164,BY799718,CR457191,CR606749 NP_064621,AAY41057,EAX05820,BAB40180,AAF87327,BAB15005,AAH14356,AAH15109,AAH17765,AAH32595,CAG33472,Q9BYD6 Hs.532019 GDB:11502822 BM022|FLJ96680|L1MT|MRP-L1 protein-coding 1315061 MRPL10 mitochondrial ribosomal protein L10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 5q. 15489334,14733910,12706105,12477932,11551941,11543634,9857009,3129699 124995 NM_148887,AB051618,AC003665,CH471109,AI221522,AK127167,AL558270,AL701268,BC015904,BC039852,BC052601,CR591517,CR591684,CR593769,CR593833,CR593882,CR596822,CR596865,NM_145255,CR604818,CR606662,CR606936,CR607866,CR608529,CR610068,CR611418,CR613540,CR616347,CR618897,CR619625,CR621367,CR621815 NP_660298,NP_683685,BAB54946,EAW94795,EAW94796,EAW94797,EAW94798,EAW94799,AAH15904,AAH52601,Q7Z7H8,ABM82065,ABM85244 Hs.347535 GDB:11506255 L10MT|MGC17973|MRP-L10|MRP-L8|MRPL8|RPML8 protein-coding 1347202 MRPL11 mitochondrial ribosomal protein L11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 5q and 12q. 1580863 11543634,17242401,16344560,16341674,15489334,14702039,12815950,12706105,12477932,11279069,10810093,9373149,8125298 65003 DB317593,NM_016050,NM_170739,NM_170738,AB051338,AP002748,CH471076,AB049638,AF151871,AK127603,AK223112,AK290084,AL519939,BC005002,BC108277,BI193255,BM554886,BM755421,BQ020382,CB115338,CR600024,CR622463 Q32P46,Q53G19,Q9Y3B7,NP_057134,NP_733935,NP_733934,BAB54928,EAW74526,EAW74527,EAW74528,EAW74529,EAW74530,EAW74531,BAB40843,AAD34108,BAD96832,BAF82773,AAH05002,AAI08278 Hs.418450 GDB:11503009 CGI-113|L11MT|MGC111024|MRP-L11 protein-coding 1606721 MRPL11P2 mitochondrial ribosomal protein L11 pseudogene 2 12706105 134008 NG_002416,AC005740,AY135247 pseudo 1346497 MRPL11P3 mitochondrial ribosomal protein L11 pseudogene 3 12706105 359734 NG_002850,AC068994,AY135248 pseudo 1343345 MRPL12 mitochondrial ribosomal protein L12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. 1580863 8626705,17337445,9169145,16169070,15635413,15489334,12706105,12477932,11551941,11543634,10600119 6182 NM_002949,AB051337,AC139530,AF059736,CH471099,AF105278,BC002344,BC007497,U25041,X79865 NP_002940,BAB54927,AAG32154,EAW89680,AAD16894,AAH02344,AAH07497,AAC73110,CAA56249,P52815,Q15693,Q96Q74 Hs.109059 GDB:5885436 5c5-2|L12mt|MGC8610|MRP-L31/34|MRPL7|MRPL7/L12|RPML12 protein-coding 1351918 MRPL13 mitochondrial ribosomal protein L13 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 1580863 11279069,15560738,15489334,12706105,12477932,11543634,8076819 28998 NM_014078,AC107877,CH471060,AB049640,AF112214,BC009190,BC021744,BF243677 NP_054797,EAW92003,EAW92004,EAW92005,BAB40845,AAF17202,AAH09190,AAH21744,Q9BYD1,ABM84043,ABM84413,ABM87394 Hs.333823 GDB:11503011 L13|L13A|L13mt|RPL13|RPML13 protein-coding 1314744 MRPL14 mitochondrial ribosomal protein L14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 17p13.3. 15489334,14574404,12706105,12477932,11543634,9857009 64928 NM_032111,AB051339,AL109615,AL365192,CH471081,AA758781,BC010416,BC065005,BM559405,BM910935,CR625056 NP_115487,BAB54929,EAX04242,EAX04243,EAX04244,EAX04245,AAH65005,Q6P1L8 Hs.311190 GDB:11503013 L14mt|MGC70566|MRP-L14|MRP-L32|MRPL32|RMPL32|RPML32 protein-coding 1345632 MRPL14P1 mitochondrial ribosomal protein L14 pseudogene 1 12706105 359735 NG_002851,AC015884,AY135249 pseudo 1312447 MRPL15 mitochondrial ribosomal protein L15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. 1580863 16381901,16344560,15489336,15489334,12706105,12477932,11543634,11256614,11230166,11076863,11042152,10593885 29088 AB051619,NM_014175,AC060764,CH471068,AF161494,AL136665,BC000891,BM510276,CR533531,CR591245,CR598879,CR600737,CR601316,CR610049,CR612116,CR612851,CR624666,DA504537 NP_054894,BAB54947,EAW86747,AAF29109,CAB66600,AAH00891,CAG38562,Q9P015,CAL37842 Hs.18349 GDB:11503015 HSPC145|L15mt|MRP-L15|MRP-L7|RPML7 protein-coding 1351695 MRPL15P1 mitochondrial ribosomal protein L15 pseudogene 1 12706105 359736 NG_002852,AC079075,AY135250,AY135251 MRPL15P2 pseudo 1354403 MRPL16 mitochondrial ribosomal protein L16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 15489334,14702039,12706105,12477932,11551941,11543634,11279069 54948 NM_017840,AP000640,CH471076,AA454132,AB049642,AF183428,AF275806,AK000491,BC001040,BC019269,CA428594,CR457117,CR608579,CR612630,CR620675 NP_060310,EAW73858,EAW73859,BAB40847,AAG09697,AAG23818,BAA91202,AAH01040,AAH19269,CAG33398,Q9NX20 Hs.530734 GDB:11503007 FLJ20484|L16mt|MRP-L16|PNAS-111 protein-coding 1351017 MRPL17 mitochondrial ribosomal protein L17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 16344560,15489334,14702039,12706105,12477932,11984006,11543634,10931946,10593885,8889548 63875 BF513148,BM725086,BQ066780,CR457177,CR593225,CR607645,CR611344,CR618867,DA876701,DB228622,NM_022061,AB051620,AC091564,CH471064,AF141338,AF164797,AK026857,AL572779,BC012306 CAG33458,Q9NRX2,ABM82507,ABM85700,ABM85962,NP_071344,BAB54948,EAW68681,EAW68682,AAG49441,AAF80761,BAB15575,AAH12306 Hs.696199,Hs.708782 GDB:11503017 L17mt|LIP2|MRP-L17|MRP-L26|RPL17L|RPML26 protein-coding 1314973 MRPL18 mitochondrial ribosomal protein L18 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L18P ribosomal protein family. Three polymorphic sites exist in this gene, one of which is three nt in length which causes an extra aa near the N-terminus. 1580863 11543634,16381901,15489336,15489334,12706105,12477932,11551941,11230166,11076863,11042152 29074 NM_014161,AL135914,AL139045,CH471051,AF161556,AL136633,BC001623,BU932963,CB529016,CR533491,CR593311,CR609327,CR610889,CR611649,CR612650 NP_054880,CAI21852,CAI19751,EAW47614,EAW47615,AAF29043,CAB66568,AAH01623,CAG38522,Q5TAP9,Q9H0U6,CAL38650 Hs.416998 GDB:11508658 HSPC071|L18mt|MRP-L18 protein-coding 1349255 MRPL19 mitochondrial ribosomal protein L19 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 1580863 10942595,17309879,15815621,15489334,12706105,12477932,11543634,11279069,10600119,9847074,7788527 9801 NM_014763,AB051621,AC005034,CH471053,AK291250,AL157503,BC021051,BC030144,BI551514,BQ432684,CR593472,CR595766,CR605824,CR607194,CR622228,D14660 NP_055578,BAB54949,AAY14972,EAW99590,BAF83939,AAH30144,BAA03494,P49406,ABM83229,ABM86428 Hs.44024 GDB:11503026 KIAA0104|L19mt|MGC20675|MRP-L15|MRP-L19|MRPL15|RLX1|RPML15 protein-coding 1316168 MRPL2 mitochondrial ribosomal protein L2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. 1580863 15489334,14574404,12706105,12477932,11543634,10810093,10593885 51069 NM_015950,AB051617,AL355385,CH471081,AF086160,AF132956,BC013685,BC020212,BM563754 NP_057034,BAB54945,CAI13780,EAX04150,EAX04151,EAX04152,EAX04153,AAD27731,AAH13685,AAH20212,Q5T653 Hs.55041 GDB:11502824 CGI-22|MRP-L14|RPML14 protein-coding 1319575 MRPL20 mitochondrial ribosomal protein L20 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. 1580863 16710414,16169070,15489334,14702039,12706105,12477932,11551941,11543634,11279069,11181995 55052 NM_017971,AL391244,CH471183,AB049644,AK000886,AW015403,BC009515,BC014316,BC059945,BG700526,CR610439,CR619017 NP_060441,CAI22658,EAW56206,EAW56207,EAW56208,BAB40849,BAA91406,AAH09515,AAH14316,AAH59945,Q9BYC9,Q9NWH4 Hs.182698 GDB:11503032 L20mt|MGC4779|MGC74465|MRP-L20 protein-coding 1320967 MRPL21 mitochondrial ribosomal protein L21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). 1580863 15489334,14702039,12706105,12477932,11943462,11551941 219927 NM_181515,NM_181514,AP000808,CH471076,AK096756,AV711404,BC055088,BM916618 NP_852616,NP_852615,EAW74724,EAW74725,EAW74726,EAW74727,EAW74728,AAH55088,Q7Z2W9 Hs.503047 GDB:11508659 L21mt|MGC62013|MRP-L21 protein-coding 1319534 MRPL22 mitochondrial ribosomal protein L22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. 1580863 15489334,15342556,14702039,12706105,12477932,11943462,11551941,11543634,11042152,8889548,9857009 29093 NM_014180,NM_001014990,AB051622,AC008410,AC008421,CH471062,AF161507,AK000601,AK097880,BC012565,BM662504,BP372420,BU943770,CR933679 NP_054899,NP_001014990,BAB54950,EAW61622,AAF29122,BAA91282,AAH12565,CAI45973,Q9NWU5 Hs.483924 GDB:11503034 DKFZp781F1071|HSPC158|L22mt|MRP-L22|MRP-L25|RPML25 protein-coding 68481 MRPL23 mitochondrial ribosomal protein L23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. 1302322,1580863 8541832,17242401,15489334,12706105,12477932,11943462,11543634,11279069 1302322 6150 NM_021134,AB051340,AC051649,CH471158,BC027710,U26596,Z49254 NP_066957,BAB54930,EAX02472,EAX02473,AAH27710,AAC50415,CAA89220,Q16540 Hs.3254 GDB:717048 FLJ45387|L23MRP|RPL23|RPL23L protein-coding 1344820 MRPL24 mitochondrial ribosomal protein L24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. 12706105,12477932,11543634,10751423,9373149 79590 Q96A35 NM_145729,NM_024540,AB051341,AL590666,CH471121,AK024570,AK222500,AK223066,BC012440,BC016700,BG706700,CR457329 NP_663781,NP_078816,BAB54931,CAI16343,CAI16344,CAI16345,CAI16346,EAW52913,EAW52914,BAB14929,BAD96220,BAD96786,AAH12440,AAH16700,CAG33610,Q96A35 Hs.418233 GDB:11503053 FLJ20917|MGC22737|MGC9831|MRP-L18 protein-coding 1354168 MRPL25 mitochondrial ribosomal protein L25 GDB:11508660 1351315 MRPL26 mitochondrial ribosomal protein L26 GDB:11508661 1319233 MRPL27 mitochondrial ribosomal protein L27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 1580863 11279069,16341674,15489334,14702039,12706105,12477932,11543634,11042152 51264 NM_016504,NM_148570,AC004707,AC015909,CH471109,NM_148571,CS072286,CS072314,AB049647,AF151084,AK023576,AK315758,BC001066,BC021986,BG829493,BM840463,CR617457 NP_683412,NP_057588,NP_683411,EAW94622,EAW94623,EAW94624,CAI93424,CAI93452,BAB40852,AAF36170,BAG38111,AAH01066,AAH21986,Q9P0M9 Hs.7736 GDB:11503055 L27mt|MGC23716 protein-coding 1349308 MRPL28 mitochondrial ribosomal protein L28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. 1580863 11543634,15616553,15489334,14702039,12706105,12477932,11551941,11157797,9672845,9373149,8125298,7751637 10573 CR614871,CR620393,CR622823,CR624908,CR626385,CR626688,U19796,NM_006428,AE006463,CH471112,Z97634,AK096844,AK226042,BC000507,BC000990,BC013829,BI833047,BT009857,BX647501,CR541751,CR590173,CR598621,CR604432,CR607877,CR614424 AAC50181,Q13084,Q4TT37,Q4TT38,Q6FHK1,Q8N8G8,NP_006419,AAK61226,EAW85827,EAW85828,EAW85829,EAW85830,EAW85831,EAW85832,EAW85833,EAW85834,CAI95594,CAI95595,CAI95596,CAM26402,CAM26403,CAM26404,BAC04874,AAH00507,AAH00990,AAP88859,CAG46551 Hs.513230 GDB:11508662 MAAT1|MGC8499|p15 protein-coding 1345650 MRPL29 mitochondrial ribosomal protein L29 GDB:11508663 1349501 MRPL2P1 mitochondrial ribosomal protein L2 pseudogene 1 12706105 347894 NG_002838,AC009522,AY135252 pseudo 1314981 MRPL3 mitochondrial ribosomal protein L3 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. 1580863 2891103,15489334,12706105,12477932,11543634 11222 NM_007208,AB051336,AC107027,CH471052,BC003375,BI490082,BM992835,CR456720,CR594770,CR595603,CR601545,CR603152,CR604372,CR611567,CR613161,CR619387,CR619647,CR623110,X06323 NP_009139,BAB54926,EAW79209,AAH03375,CAG33001,CAA29639,P09001,Q6IBT2,Q96Q75 Hs.205163 GDB:9957451 MRL3|RPML3 protein-coding 1317834 MRPL30 mitochondrial ribosomal protein L30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified at least two transcript variants encoding the same protein. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. 1580863 15815621,15489334,14702039,12706105,12477932,11543634,11042152,9857009,9373149,8125298 51263 BU154006,CR602357,CR603303,CR608673,NM_145212,NM_145213,AB051342,AC079447,AC092587,AK025547,AK126402,AK225894,BC000217,BC013822,BC022391 AAH22391,Q0D2Q7,Q8TCC3,NP_660213,NP_660214,BAB54932,AAX88929,BAC86542,AAH00217 Hs.590896 GDB:11503057 FLJ44438|MGC24095|MGC3314|MRP-L28|MRPL28|RPML28 protein-coding 1350315 MRPL31 mitochondrial ribosomal protein L31 GDB:11508664 1321503 MRPL32 mitochondrial ribosomal protein L32 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. 1580863 11543634,16341674,15489334,14702039,12706105,12690205,12477932,12446740,11551941,11279069,8889548 64983 NM_031903,AB051343,AC010132,CH236951,CH471073,AB049649,AF161401,AK090551,BC013147,BM833110,BU687817,CR593442,CR599793,DB456673 NP_114109,BAB54933,EAL24006,EAW94154,EAW94155,EAW94156,EAW94157,BAB40854,AAF28961,AAH13147,Q9BYC8 Hs.50252 GDB:11503059 HSPC283|L32mt|MRP-L32|bMRP-59b protein-coding 1343335 MRPL33 mitochondrial ribosomal protein L33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 9653160,15815621,15489334,12706105,12477932,11543634,11279069,11042152 9553 NM_004891,NM_145330,AB051623,AC074091,AC110084,CH471053,AA836397,AF047440,BC009475,BC020834,BC087846,BC090047,BI601959,CR456888,CR542117 NP_004882,NP_663303,BAB54951,AAX93204,EAX00552,EAX00553,AAC39891,AAH09475,AAH20834,AAH90047,CAG33169,CAG46914,O75394,Q5FVE3 Hs.515879 GDB:10797072 C2orf1|MGC111093|MGC13694|MGC23922|RPL33L protein-coding 1345591 MRPL34 mitochondrial ribosomal protein L34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 1580863 11543634,15489334,12706105,12477932,11279069,10600119 64981 NM_023937,AC010463,CH471106,CS072381,AB049652,BC000071,BC021801 NP_076426,EAW84590,EAW84591,EAW84592,CAI93519,BAB40857,AAH00071,AAH21801,Q9BQ48 Hs.515242 GDB:11503061 L34mt|MGC24974|MGC2633 protein-coding 1316034 MRPL35 mitochondrial ribosomal protein L35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. 11543634,16344560,15489334,12706105,12477932,11551941,11042152,7757816 51318 NM_016622,NM_145644,AC009309,CH471053,AF208849,AK026220,AK074352,AK314577,AL832982,BC020651,BG108475,BQ421154,BQ879834,BU195549,CR609156,DA413384,DA443416,DB245340,F11007,H11039 NP_057706,NP_663619,EAW99459,EAW99460,EAW99461,AAF64263,BAG37154,CAH56349,AAH20651,Q9NZE8 Hs.433439 GDB:11508665 L35mt|MRP-L35 protein-coding 1345132 MRPL35P3 mitochondrial ribosomal protein L35 pseudogene 3 12706105,359744 359744 NG_002860,AC022540,AY135263 pseudo 1314956 MRPL36 mitochondrial ribosomal protein L36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. 1580863 11279069,15489334,12706105,12477932,11543634,11329013,10931946 64979 NM_032479,AC026443,CH471102,AB049654,AF151109,AF155653,BC020642,BC104652,BG185418,DW465815,EF036487 NP_115868,EAX08144,EAX08145,BAB40859,AAF04788,AAF67010,AAH20642,AAI04653,ABO65073,Q9P0J6 Hs.32196 GDB:11503064 BRIP1|L36mt|MGC104245|MRP-L36|PRPL36|RPMJ protein-coding 1345200 MRPL36P1 mitochondrial ribosomal protein L36 pseudogene 1 12706105 285003 NG_002831,AC016700,AY135265 pseudo 1348769 MRPL37 mitochondrial ribosomal protein L37 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 724579 11543634,16710414,15562971,15489334,12706105,12477932,11042152,10600119 724579 51253 AB051344,AL161644,AL357673,CH471059,DQ205685,AF151069,AF325707,AI245012,AY421759,BC000041,CR594129,CR597035,CR598610,CR599560,CR603823,CR604411,CR610782,CR611248,CR615286,CR618152,CR620232,CR625978,AK024572,AK026171,NM_016491 NP_057575,BAB54934,CAI23564,CAH73897,EAX06694,EAX06695,EAX06696,EAX06697,EAX06698,ABA27099,AAF36155,AAG52881,AAR38839,AAH00041,Q6TGK8,Q9BZE1 Hs.584908 GDB:11500959 L37mt|MGC878|MRP-L2|MRP-L37|MRPL2|RPML2 protein-coding 1345251 MRPL37P1 mitochondrial ribosomal protein L37 pseudogene 1 387614 1322502 MRPL38 mitochondrial ribosomal protein L38 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 15489334,12706105,12477932,11543634 64978 NM_032478,AB051345,AC087289,CH471099,AF161380,AI126946,BC013311,BC034460,BC041881 NP_115867,BAB54935,EAW89338,EAW89339,EAW89340,AAF28940,AAH13311,Q96DV4,Q96Q66 Hs.442609,Hs.658049 GDB:11503066 HSPC262|MGC4810|MRP-L3|RPML3 protein-coding 1348143 MRPL39 mitochondrial ribosomal protein L39 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. 1580863 11167009,15489334,14702039,12706105,12477932,11943462,11543634,10593885,9373149,8125298 54148 NM_017446,NM_080794,AB051346,AP000223,CH471079,AF109357,AF239727,AF270511,AK000458,AK225878,BC004896,BC107719,BE865858,BQ719968,CD368044,CR598909,CR614734 NP_059142,NP_542984,BAB54936,EAX09979,EAX09980,EAX09981,EAX09982,AAQ13505,AAF44696,AAK12856,BAA91177,AAH04896,AAI07720,Q9NYK5 Hs.420696 GDB:11503068 C21orf92|FLJ20451|L39mt|MGC104174|MGC3400|MRP-L5|MRPL5|MSTP003|PRED22|PRED66|RPML5 protein-coding 1323408 MRPL4 mitochondrial ribosomal protein L4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. 1580863 16189514,15489334,12706105,12477932,11543634,11279069,10810093,9110174,8619474 51073 AB049635,AF132962,AI092267,AL561917,AY007152,BC000756,BC009858,BG325905,BG422689,BG758801,BM550378,CR595871,CR598866,CR599937,CR602741,CR606374,CR608400,CR611784,CR612119,CR613991,CR617549,CR620093,CR621397,CR623102,CR624166,CR624335,CR624795,CR626624,W38612,NM_146388,NM_015956,NM_146387,AC011511,CH471106 BAB40840,AAD27737,AAG02005,AAH00756,AAH09858,Q9BYD3,NP_666500,NP_057040,NP_666499,EAW84083,EAW84084,EAW84085 Hs.279652 GDB:11506257 CGI-28|L4mt|MGC16367|MGC2681 protein-coding 1343765 MRPL40 mitochondrial ribosomal protein L40 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. 1580863 9790763,15489334,15461802,14702039,12706105,12477932,11543634,10226592,9857009 64976 NM_003776,AB051624,AC000068,AC000079,CH471176,AF034091,AJ295637,AK057708,AK123768,BC009707,CR456532,CR597074,CR597501 NP_003767,EAX03042,AAC70904,CAC00535,AAH09707,CAG30418,Q9NQ50,CAK54563,CAK54862,ABM82381,ABM82579,ABM85559 Hs.431307 GDB:11503075 FLJ41774|MGC9400|MRP-L22|NLVCF|URIM protein-coding 1321029 MRPL41 mitochondrial ribosomal protein L41 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. 16024796,16256947,15547950,15489334,15164053,12706105,12477932,11551941,11543634,9857009 64975 NM_032477,AB051625,AL365502,CH471090,AI091177,AY232291,BC040035,BM919526,CR595159 NP_115866,BAB54952,CAI14583,EAW88399,AAP69986,AAH40035,Q8IXM3 Hs.44017 GDB:11503081 BMRP|MRP-L27|MRPL27|PIG3|RPML27 protein-coding 1312629 MRPL42 mitochondrial ribosomal protein L42 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Further experiments will be needed to identify the specific subunit localization. Sequence analysis identified three transcript variants that encode two different isoforms. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. 1302857,1580863 11279123,16169070,15489334,14702039,12706105,12477932,11551941,11543634,11230166,11042152,8889548 1302857 28977 NM_172177,NM_014050,AB051626,AC025260,CH471054,AF078860,AF135160,AF151038,AK000285,AL136659,BC040240,BM147739,BM726733,CR533495,CR601784,CR614600,CR749344,NM_172178 CAH18197,NP_751918,NP_751917,NP_054769,BAB54953,EAW97483,EAW97484,EAW97485,EAW97486,EAW97487,EAW97488,EAW97489,AAD44492,AAF43784,AAF36124,BAA91054,CAB66594,AAH40240,CAG38526,Q68DM3,Q6FID1,Q9Y6G3 Hs.199579 GDB:11500569 HSPC204|MRP-L31|MRPL31|MRPS32|PTD007|RPML31 protein-coding 1354299 MRPL42P1 mitochondrial ribosomal protein L42 pseudogene 1 12706105 285415 NG_002665,AC092656,AY135266 pseudo 1601918 MRPL42P5 mitochondrial ribosomal protein L42 pseudogene 5 12706105,8889548 359821 NR_002208,AC091045,AY135270,BM979118 Hs.678598 pseudo 1316878 MRPL43 mitochondrial ribosomal protein L43 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. 1580863 17353931,11543634,15509589,15489334,14702039,12706105,12477932,11279069 84545 NM_176792,NM_176793,NM_176794,NM_032112,AL133215,CH471066,AB049656,AF086122,AK095556,AK291069,AW513604,BC015905,BC031287,BC041165,BC052639,BC053373,BG620490,BM455058,BU072283,CR593768,CR595972,CR605711,CR612593,CR624980 NP_789762,NP_789763,NP_789764,NP_115488,CAI10917,CAI10918,CAI10919,CAI10920,CAI10921,CAI10922,CAI10923,EAW49795,EAW49796,EAW49797,EAW49798,EAW49799,EAW49800,BAB40861,BAC04572,BAF83758,AAH15905,AAH31287,AAH41165,AAH52639,AAH53373,Q5JW07,Q5JW08,Q5JW09,Q5JW12,Q5JW13,Q5JW14,Q86XN0,Q8N983 Hs.421848 GDB:11503088 MGC17989|MGC48892|bMRP36a protein-coding 1319960 MRPL44 mitochondrial ribosomal protein L44 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 1580863 17353931,16169070,15489334,14702039,12706105,12477932,11551941 65080 NM_022915,AC073641,CH471063,AA814344,AK022763,AK024052,AK095007,AL703412,BC012058,BG699238,CB132022,CR457293,CR598480,CR613852,CR619403,CR626643 NP_075066,AAY14925,EAW70819,EAW70820,BAB14234,BAB14802,AAH12058,CAG33574,Q9H9J2 Hs.203559 GDB:11502630 FLJ12701|FLJ13990|FLJ37688|L44MT|MRP-L44 protein-coding 1312625 MRPL45 mitochondrial ribosomal protein L45 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. 1580863 15489334,14702039,12706105,12477932,11551941,9373149,8125298 84311 Q9BRJ2 BF240534,BG719833,BG761720,CR595393,CR601011,CR602950,CR602955,CR609989,NM_032351,XM_001126219,AC021317,AC115992,CH471152,AK172741,AK225031,BC006235,BC130382,BC130384,CR626717,CR609992 NP_115727,XP_001126219,EAW60511,BAD18730,AAI30383,AAI30385,Q9BRJ2 Hs.462913 GDB:11508878 MGC11321 protein-coding 1319287 MRPL46 mitochondrial ribosomal protein L46 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 1580863 15489334,15146197,12706105,12477932,11761714,11551941 26589 NM_022163,AC142401,CH471101,AF205435,AF210056,AK074053,BC017883,CN309742,CR601389,CR609481,CR615320 NP_071446,EAX01995,EAX01996,EAX01997,EAX01998,AAG33698,AAG43507,BAB84879,AAH17883,Q8TER9,Q9H2W6 Hs.534261 GDB:11502624 C15orf4|LIECG2|MGC22762|P2ECSL protein-coding 1316780 MRPL47 mitochondrial ribosomal protein L47 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. 1580863 12477932,11943462,11551941,12706105 57129 NM_177988,NM_020409,AC090425,CH471052,AY212270,BC021575,BC032522,CA428787 NP_817125,NP_065142,EAW78394,EAW78395,EAW78396,AAO92749,AAH21575,AAH32522,Q6XRG1,Q8N5D1,Q9HD33 Hs.283734 GDB:11506259 CGI-204|MGC45403|NCM1 protein-coding 1316849 MRPL48 mitochondrial ribosomal protein L48 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. 1580863 18324346,16344560,16341674,15489334,12706105,12477932,11551941,10810093,8889548 51642 NM_016055,AP002770,CH471076,AF151876,AF161408,AK309219,AK310005,BC009764,BC036501,BM817807,BM828996,BU932890,CF529680,CF541319,CR590808,CR611866,CR616956,DA549653 NP_057139,EAW74913,AAD34113,AAF28968,AAH09764,AAH36501,Q96GC5 Hs.503239 GDB:11506261 CGI-118|FLJ17047|FLJ99260|HSPC290|L48MT|MGC13323|MRP-L48 protein-coding 1344176 MRPL48P1 mitochondrial ribosomal protein L48 pseudogene 1 12706105 221717 NG_002430,AL138885,AY135273 MRPL48L1|dJ290I10.4 pseudo 1320522 MRPL49 mitochondrial ribosomal protein L49 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for the HRD1 protein use in their respective 3' UTRs some of the same genomic sequence. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. 1580863 15489334,14702039,12706105,12477932,11551941,8786148 740 NM_004927,AP003068,CH471076,AB062395,AB209160,AK123252,AK129795,AK129986,BC004378,BG250495,CR593043,CR598452,CR600382,CR602808,CR625371,U39400 NP_004918,EAW74354,EAW74355,EAW74356,BAB93482,BAD92397,AAH04378,AAB18826,Q13405,Q59GE9 Hs.75859 GDB:9476728 C11orf4|L49mt|MGC10656|NOF|NOF1 protein-coding 1342652 MRPL49P2 mitochondrial ribosomal protein L49 pseudogene 2 12706105 346711 NG_002836,AC010785,AY135275 pseudo 1353682 MRPL5 mitochondrial ribosomal protein L5 GDB:11508655 1317530 MRPL50 mitochondrial ribosomal protein L50 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. 15489334,15164053,15146197,14702039,12706105,12477932,11551941 54534 NM_019051,AL353621,CH471105,AK000500,BC032008,CN388719 NP_061924,CAI14610,EAW58948,BAA91207,AAH32008,Q8N5N7 Hs.288224 GDB:11506262 FLJ20493|FLJ21990|MRP-L50 protein-coding 1348015 MRPL50P1 mitochondrial ribosomal protein L50 pseudogene 1 12706105 351143 NG_002841,AC068274,AY135276 pseudo 1315444 MRPL51 mitochondrial ribosomal protein L51 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. 15489334,12706105,12477932,11551941,11543634,11402041,11042152 51258 NM_016497,AB051355,AC006064,CH471116,AB049959,AF151075,AF212248,BC000191,BC014329,BI856229,CR608330,CR624922 NP_057581,BAB54944,EAW88791,BAB41012,AAF36161,AAK14931,AAH00191,AAH14329,Q4U2R6 Hs.55847 GDB:11503423 CDA09|HSPC241|MRP64|bMRP64 protein-coding 1344793 MRPL51P1 mitochondrial ribosomal protein L51 pseudogene 1 12706105 351773 NG_002843,AC006568,AY135280 pseudo 1352102 MRPL51P2 mitochondrial ribosomal protein L51 pseudogene 2 12706105 343819 NG_002834,AP001631,AY135281 pseudo 1319568 MRPL52 mitochondrial ribosomal protein L52 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. 16344560,16341674,15489334,14702039,12706105,12477932,11943462,11551941 122704 AK292011,BC055381,BC068070,BG714882,BG716120,BQ082981,BU600884,BX248749,CR614140,DA917052,AK096946,NM_181304,NM_181305,NM_181306,NM_178336,NM_181307,NM_180982,AL135998,CH471078,AA282746,AA282747,AI380351,AK000450 BAF84700,AAH68070,CAD66556,Q86TS9,NP_851821,NP_851822,NP_851823,NP_848026,NP_851824,NP_851313,EAW66238,EAW66239,EAW66240,EAW66241,EAW66242,EAW66243,EAW66244 Hs.355935 GDB:11508879 protein-coding 1315480 MRPL53 mitochondrial ribosomal protein L53 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. 15489334,12706105,12477932,11551941,11329013 116540 NM_053050,AC005041,CH471053,BC012163,BG196300 NP_444278,EAW99651,AAH12163,Q96EL3 Hs.534527 GDB:11508881 FLJ90728|MGC20402 protein-coding 1313872 MRPL54 mitochondrial ribosomal protein L54 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. 15489334,12706105,12477932,11551941,7566098 116541 NM_172251,AC005777,AC005954,CH471139,AA340000,BC065273,BF346319,BM792364,BQ061807 NP_758455,EAW69289,AAH65273,Q6P161 Hs.356578 GDB:11506264 protein-coding 1317775 MRPL55 mitochondrial ribosomal protein L55 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. 17567985,16710414,15489334,14702039,12975309,12706105,12477932,11943462,11551941,10737800,8889548 128308 NM_181462,NM_181465,NM_181464,NM_181455,NM_181454,AL136379,CH471098,AA479904,AI301403,AK056987,AY358771,BC052806,NM_181463,NM_181441,NM_181456,BF945771,BG475759,BI458525,BM706934,BM975134,BP871687,BQ012917,BQ684146,BQ771735,BQ920610,BU594505,BU597178,BU601595,BU956146,BX647745,CB529047,CR617921,CV572808 NP_852128,NP_852127,NP_852130,NP_852129,NP_852120,NP_852119,CAI23115,CAI23116,CAI23117,CAI23118,EAW69840,EAW69841,EAW69842,EAW69843,EAW69844,EAW69845,EAW69846,EAW69847,EAW69848,EAW69849,AAQ89131,AAH52806,NP_852106,NP_852121,Q7Z7F7 Hs.63236 GDB:11506266 AAVG5835|DKFZp686D1387|L55nt|MGC61802|MRP-L55|PRO19675 protein-coding 1350310 MRPL6 mitochondrial ribosomal protein L6 GDB:11508656 1346687 MRPL8 mitochondrial ribosomal protein L8 GDB:11508657 1350314 MRPL9 mitochondrial ribosomal protein L9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 8q21.11. 1580863 11543634,16710414,15489334,12706105,12477932,11551941,11279069 65005 NM_031420,AL589765,CH471121,AB049636,AK026363,BC004517,BG437768,CR623678 NP_113608,CAI17171,CAI17172,EAW53415,EAW53416,BAB40841,AAH04517,Q9BYD2 Hs.288936 GDB:11506268 L9mt protein-coding 1353849 MRPL9P1 mitochondrial ribosomal protein L9 pseudogene 1 12706105 137290 NG_001539,AC011716 pseudo 1350720 MRPS1 mitochondrial ribosomal protein S1 1302857 11943462 1302857 GDB:11508666 1323017 MRPS10 mitochondrial ribosomal protein S10 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. 1302857,1580863 15489334,14702039,14574404,12706105,10938081,12477932,11827452,11279123 1302857 55173 NM_018141,AL096814,CH471081,AF113220,AF277180,AI683142,AI754661,AK001429,AK098446,AW300686,AW974308,BC012560,BG776014 NP_060611,CAD92529,EAX04086,EAX04087,AAG39291,AAK07539,BAA91686,AAH12560,P82664,Q9BZS5 Hs.380887,Hs.669022 GDB:11506270 FLJ10567|MRP-S10|PNAS-122 protein-coding 1604465 MRPS10P1 mitochondrial ribosomal protein S10 pseudogene 1 12706105 359753 NG_002869,AL121714,AY135284 pseudo 1604163 MRPS10P2 mitochondrial ribosomal protein S10 pseudogene 2 12706105 359802 NG_002903,AC024168,AY135285,AY135286,AY135287 MRPS10P3|MRPS10P4 pseudo 1604464 MRPS10P5 mitochondrial ribosomal protein S10 pseudogene 5 12706105 359754 NG_002870,AL138752,AY135288 pseudo 1350817 MRPS11 mitochondrial ribosomal protein S11 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Sequence analysis identified two transcript variants that encode different protein isoforms. 1580863 15300802,15489334,14702039,12706105,12477932,11543634,11402041,11279123,9373149,8125298 64963 NM_022839,NM_176805,AB051349,AC013489,AC142401,AF320777,CH471101,AB049944,AK026165,AK027059,AK222933,AK223152,BC000200,BC009451,BC012489,BC032378,CR602512 NP_073750,NP_789775,BAB54939,AAK97314,EAX01999,EAX02000,EAX02001,EAX02002,BAB40997,BAB15381,BAD96653,BAD96872,AAH00200,AAH09451,AAH12489,AAH32378,P82912,Q53FX9,Q53GJ8,Q96Q62,Q9BWJ3,ABM82512,ABM85706 Hs.111286 GDB:11503232 FLJ22512|FLJ23406|HCC-2 protein-coding 1346551 MRPS11P1 mitochondrial ribosomal protein S11 pseudogene 1 12706105 128774 NG_000977,AL109953,AY135289 GDB:11506272 dJ746H2.1 pseudo 1314714 MRPS12 mitochondrial ribosomal protein S12 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. 1580863 12970870,9545647,16169070,15489334,12706105,12477932,11543634,11402041,11279123,10542210,9790755,9434165,12646258 6183 NM_033362,NM_021107,NM_033363,AC011455,AF058761,CH471126,AI168197,BC001617,BC006424,BC007499,CR407609,Y11681 NP_203526,NP_066930,NP_203527,AAC64704,EAW56849,EAW56850,EAW56851,EAW56852,AAH01617,AAH06424,AAH07499,CAG28537,CAA72377,O15235,Q53X98 Hs.411125 GDB:6045054 MPR-S12|MT-RPS12|RPMS12|RPS12|RPSM12 protein-coding 1342933 MRPS13 mitochondrial ribosomal protein S13 1302857 11943462 1302857 GDB:11508669 1319772 MRPS14 mitochondrial ribosomal protein S14 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. 1580863 10938081,16710414,15489334,12706105,12477932,11543634,11279123,17353931 63931 NM_022100,AB051350,CH471067,Z99297,AL049705,BC009788 NP_071383,BAB54940,EAW90984,EAW90985,CAB16601,CAB41269,AAH09788,O60783,Q96Q61 Hs.702192 GDB:11503235 DJ262D12.2|HSMRPS14|MRP-S14 protein-coding 1347502 MRPS15 mitochondrial ribosomal protein S15 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. 1580863 11279123,15489334,14702039,12706105,12477932,11543634,11402041,8889548 64960 NM_031280,AC119675,CH471059,AB049946,AB209905,AF265439,AK021626,AK125230,AK315441,BC031336,BF310592,BM048518,BU927793,CF123360 NP_112570,EAX07359,EAX07360,EAX07361,EAX07362,EAX07363,BAB40999,BAD93142,AAG44697,BAG37829,AAH31336,P82914,Q59EA6 Hs.352839 GDB:11503290 DC37|FLJ11564|MPR-S15|RPMS15|S15mt protein-coding 1321233 MRPS16 mitochondrial ribosomal protein S16 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. 1580863 11279123,15505824,15489334,14702039,12706105,12477932,11543634,11402041,10810093 51021 NM_016065,AB051351,AC016394,CH471083,AB049948,AF151890,AK025715,AK098291,BC021106,BQ441549,CR592830 NP_057149,BAB54941,EAW54487,BAB41001,AAD34127,AAH21106,Q9Y3D3 Hs.180312 GDB:11500606 CGI-132|COXPD2|FLJ22062|FLJ40972|MRP-S16|RPMS16 protein-coding 1349830 MRPS16P mitochondrial ribosomal protein S16 pseudogene 12706105 128609 NG_000968,AL136532,AY135293 GDB:11506274 MRPS16P2|bA379F14.1 pseudo 1351805 MRPS16P1 mitochondrial ribosomal protein S16 pseudogene 1 12706105 137406 NG_002648,AC103680,AY135292 pseudo 1348362 MRPS16P3 mitochondrial ribosomal protein S16 pseudogene 3 12706105 338388 NG_002649,AL049748,AY135294 pseudo 1316964 MRPS17 mitochondrial ribosomal protein S17 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. 1580863 11279123,17081983,15489334,12706105,12477932,11543634,11402041,11042152,9653160 51373 NM_015969,AB051352,AC092579,CH471140,AB049950,AF077035,AK026553,BC037405,BC047445,BC054031 NP_057053,BAB54942,EAX07963,BAB41003,AAD27768,AAH37405,AAH47445,AAH54031,Q8IY71,Q96Q59,Q9Y2R5 Hs.44298 GDB:11503293 HSPC011|MRP-S17|RPMS17 protein-coding 1604162 MRPS17P1 mitochondrial ribosomal protein S17 pseudogene 1 12706105 359803 NG_004092,AL136380,AY135295,AY135296 MRPS17P2 pseudo 1604703 MRPS17P7 mitochondrial ribosomal protein S17 pseudogene 7 12706105 342776 NG_004091,AC022724,AY135298,AY135301,AY135302 MRPS17P4|MRPS17P8 pseudo 1346345 MRPS18A mitochondrial ribosomal protein S18A Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. 1302857,1580863 11279123,15489334,14702039,14574404,12706105,12477932,11543634,11402041 1302857 55168 NM_018135,AL136131,CH471081,AB049952,AK001410,BC010364,CR592702,CR602940,CR603681,CR604254,CR605035,CR607376,CR611756,CR625947,DQ884400 NP_060605,CAC19510,CAI19963,CAI19964,EAX04224,EAX04225,BAB41005,BAA91675,AAH10364,ABI63367,Q5QPA4,Q5QPA5,Q9NVS2 Hs.520149 GDB:11503295 FLJ10548|HumanS18b|MRP-S18-3|MRPS18-3|S18bmt protein-coding 1349132 MRPS18B mitochondrial ribosomal protein S18B Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. 1302857,1580863 11279123,16702430,16189514,15489334,15342556,12706105,12477932,11402041,11042152,17353931 1302857 28973 CR759778,AF100761,AF151017,AL050361,BC005373,BE220785,BG773408,BP369345,CR597692,CR606443,CR610108,CR617004,CR619449,CR620352,CR623682,AB110933,AB110934,AB202094,AL662800,AL662825,AL732442,AL845353,BX119957,BX248507,BX908728,CH471081,CR753328,NM_014046 CAP58452,CAP58453,CAQ09404,CAQ09405,AAD43025,AAF36103,CAH56415,AAH05373,Q5STN0,Q5STZ1,Q9Y676,NP_054765,BAD13699,BAD13700,BAE78614,CAI18161,CAI18162,CAI17839,CAI17840,CAI17764,CAI17765,CAI41877,CAI41878,CAI18569,CAQ07411,CAQ07412,EAX03304,EAX03305 Hs.655329 GDB:11506276 C6orf14|DKFZp564H0223|HSPC183|HumanS18a|MRP-S18-2|MRPS18-2|PTD017|S18amt protein-coding 1317511 MRPS18C mitochondrial ribosomal protein S18C Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. 1302857,1580863 11279123,16344560,15489334,14702039,12706105,12477932,10810093 1302857 51023 AK002008,AK026620,BC005186,CR594294,DB141267,NM_016067,AC096768,CH471057,AF151892 AAH05186,Q9Y3D5,NP_057151,EAX05937,EAX05938,EAX05939,EAX05940,AAD34129 Hs.436161 GDB:11506278 CGI-134|FLJ11146|FLJ22967|MRP-S18-1|MRPS18-1 protein-coding 1351675 MRPS18CP2 mitochondrial ribosomal protein S18C pseudogene 2 18154640,12706105 286043 NG_002666,AC087763,AY135308 pseudo 1344844 MRPS18CP4 mitochondrial ribosomal protein S18C pseudogene 4 12706105 349842 NG_002839,AY135310 pseudo 1349276 MRPS18CP6 mitochondrial ribosomal protein S18C pseudogene 6 12706105 343901 NG_002835,AY135312 pseudo 1345475 MRPS19 mitochondrial ribosomal protein S19 1302857 11943462 1302857 GDB:11508670 1319275 MRPS2 mitochondrial ribosomal protein S2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. 1580863 15489334,12706105,12477932,11543634,11402041,11279123,10810093 51116 AB051627,AL161452,CH471090,AB055388,AF151849,AI300329,BC004905,BC008017,NM_016034,BC013108,BX362434,CR590268,CR594195,CR594313,CR597790,CR601906,CR602548,CR603007,CR603788,CR604166,CR607813,CR608447,CR611464,CR615619,CR616508,CR618613,CR619983,CR622426,CR623075 NP_057118,BAB54954,CAI14046,CAI14047,EAW88152,EAW88153,BAB62529,AAD34086,AAH04905,AAH08017,AAH13108,Q5T899,Q5T8A0,Q96Q47,Q9Y399 Hs.382044 GDB:11503090 CGI-91|MRP-S2|S2mt protein-coding 1347127 MRPS20 mitochondrial ribosomal protein S20 1302857 11943462 1302857 GDB:11508671 1316574 MRPS21 mitochondrial ribosomal protein S21 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. 11279123,15489334,12706105,12477932,11543634,11402041,9110174,8619474 54460 NM_018997,NM_031901,AB051353,AL138795,CH471121,AA977333,AB049955,AF182417,AK058101,AK289467,BC004566,BC006554,BG037004,BI755132,CR610321,U79258 NP_061870,NP_114107,CAI22820,EAW53557,EAW53558,EAW53559,BAB41008,AAG14953,BAB71666,BAF82156,AAH04566,AAH06554,AAB50204,P82921,Q5TB11,Q96LM4,Q99768 Hs.405880 GDB:11503297 MDS016|MRP-S21|RPMS21 protein-coding 1342901 MRPS21P1 mitochondrial ribosomal protein S21 pseudogene 1 12706105 199900 NG_002663,AL357078,AY135313 pseudo 1604463 MRPS21P2 mitochondrial ribosomal protein S21 pseudogene 2 12706105 359766 NG_002882,AL139409,AY135314 pseudo 1604462 MRPS21P3 mitochondrial ribosomal protein S21 pseudogene 3 12706105 359767 NG_002883,AL513325,AY135315 pseudo 1604461 MRPS21P4 mitochondrial ribosomal protein S21 pseudogene 4 12706105 359768 NG_002884,AL354935,AY135316 pseudo 1604460 MRPS21P5 mitochondrial ribosomal protein S21 pseudogene 5 12706105 359769 NG_002885,AL390866,AY135317 pseudo 1604459 MRPS21P6 mitochondrial ribosomal protein S21 pseudogene 6 12706105 359770 NG_002886,AL157888,AY135318 pseudo 1604458 MRPS21P7 mitochondrial ribosomal protein S21 pseudogene 7 12706105 359771 NG_002887,AC027348,AY135319 pseudo 1344442 MRPS21P8 mitochondrial ribosomal protein S21 pseudogene 8 12706105 350297 NG_002840,AC027348,AY135320 pseudo 1604457 MRPS21P9 mitochondrial ribosomal protein S21 pseudogene 9 12706105 359772 NG_002888,AC021491,AY135321 pseudo 1353996 MRPS22 mitochondrial ribosomal protein S22 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. 1580863 17353931,10938081,17873122,16303743,16236267,15489334,15081106,12706105,12477932,11543634,11279123,11175783 56945 NM_020191,CR596872,CR610332,CR619759,CR624297,CR626182,CR596632,AB061314,AC024933,CH471052,AB208981,AF063603,AF226045,AF321613,AK075436,AK292852,AL110129,BC009296 NP_064576,P82650,Q59GX8,Q8NBL6,Q96Q16,Q9H3I1,BAB54962,EAW79041,EAW79042,EAW79043,EAW79044,EAW79045,BAD92218,AAG43162,AAF86945,AAK01406,BAC11619,BAF85541,AAH09296 Hs.581614 GDB:11498201 C3orf5|COXPD5|GIBT|GK002|MRP-S22|RPMS22 protein-coding 1315875 MRPS23 mitochondrial ribosomal protein S23 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. 1580863 15489334,12706105,12477932,11543634,11279123,10938081,10810093 51649 NM_016070,AB061206,AC015845,CH471109,AF151896,AF161447,BC000242,CR622139,CR622466 NP_057154,BAB54956,EAW94503,AAD34133,AAF29007,AAH00242,Q9Y3D9 Hs.5836 GDB:11503301 CGI-138|HSPC329|MRP-S23 protein-coding 1354385 MRPS23P1 mitochondrial ribosomal protein S23 pseudogene 1 12706105 352290 NG_002844,AC004847,AC004854,AY135323,CH236960 pseudo 1314387 MRPS24 mitochondrial ribosomal protein S24 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. 10938081,15489334,12706105,12690205,12477932,11543634,11402041,11279123,9653160,8127713,17353931 64951 NM_032014,AB061207,AC004985,CH236951,CH471073,AF161453,BC012167,BC054865,CA413186 NP_114403,BAB54957,EAL24009,EAW94172,EAW94173,AAF29013,AAH12167,AAH54865,Q96EL2 Hs.284286 GDB:11503303 HSPC335|MRP-S24 protein-coding 1352075 MRPS24P1 mitochondrial ribosomal protein S24 pseudogene 1 12706105 338389 NG_002650,AC136475,AY135324 pseudo 1318737 MRPS25 mitochondrial ribosomal protein S25 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. 1580863 15489334,14702039,12706105,12477932,11543634,11279123,11214971,10938081,17353931 64432 NM_022497,AB061208,AC090954,CH471055,AI288348,AK024433,AK024702,AK098361,AL597886,BC003590,CR602083,CR607348 NP_071942,BAB54958,EAW64217,EAW64218,EAW64219,BAB15723,BAB14968,AAH03590,P82663,Q96Q22 Hs.555973 GDB:11503305 DKFZp313H0817|FLJ00023|MRP-S25|RPMS25 protein-coding 1343711 MRPS25P1 mitochondrial ribosomal protein S25 pseudogene 1 12706105 338390 NG_002651,AC021127,AY135325 pseudo 1318680 MRPS26 mitochondrial ribosomal protein S26 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. 1580863 15300802,11279123,15489334,12747765,12706105,12477932,11780052,11543634,9857009 64949 NM_030811,AB051354,AF110983,AL121905,CH471133,AF308301,BC013018,BI115733 NP_110438,BAB54943,CAC10339,EAX10556,AAG48268,AAH13018,Q9BYN8,Q9H273 Hs.18946 GDB:11503307 C20orf193|GI008|MRP-S13|MRP-S26|MRPS13|NY-BR-87|RPMS13|dJ534B8.3 protein-coding 1323490 MRPS27 mitochondrial ribosomal protein S27 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). 1580863 12706105,12477932,11344316,11279123,9039502 23107 BM995930,CR592628,D87453,DC341760,NM_015084,AC012609,AC026406,CH471084,AK025417,AK027001,AK128683,BC003632,BC011818,BC030521,BC064902 BAA13394,Q6P1S1,Q6PKB3,Q8N6F2,Q92552,NP_055899,EAW95701,EAW95702,EAW95703,AAH03632,AAH30521,AAH64902 Hs.482491 GDB:9785405 FLJ21764|FLJ23348|KIAA0264|MRP-S27|S27mt protein-coding 1313591 MRPS28 mitochondrial ribosomal protein S28 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. 1302857,1580863 10938081,15489334,12706105,12477932,11543634,11279123,11042152,10751423,9373149,8125298 1302857 28957 NM_014018,AB061209,AC009686,AC018952,AC036214,CH471068,AF070663,AK026506,AK223069,BC010150,CR602923,CR616931 NP_054737,BAB54959,EAW87069,EAW87070,EAW87071,EAW87072,AAD20969,BAD96789,AAH10150,Q53G62,Q9Y2Q9 Hs.521124 GDB:11503309 FLJ22853|HSPC007|MRP-S28|MRP-S35|MRPS35 protein-coding 1344118 MRPS3 mitochondrial ribosomal protein S3 1302857 11943462 1302857 GDB:11508667 1320179 MRPS30 mitochondrial ribosomal protein S30 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. 1302857,1580863 10640817,15489334,14702039,12706105,12477932,11543634,11279123,11230166,11042152,9373149,8889548,8125298 1302857 10884 AB061211,AC093297,CH471119,CQ782712,AF146192,AF217523,AK074777,AK222704,AK222894,AL136706,AL355715,AL355716,NM_016640,BC002460,BC007735,BU676154,CR591562,CR620326 NP_057724,BAB54961,EAW56076,CAF85946,AAF65227,AAF67634,BAC11202,BAD96424,BAD96614,CAB66641,CAB90810,CAB90811,AAH02460,AAH07735,Q53GN7,Q53H77,Q9BUN6,Q9NP92 Hs.591747 GDB:11503313 DKFZp566B2024|MRP-S30|PAP|PDCD9 protein-coding 1316990 MRPS31 mitochondrial ribosomal protein S31 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. 1302857,1580863 8567980,15489334,15057823,12706105,12477932,11279123 1302857 10240 NM_005830,AL161614,AL355132,CH471075,AI343737,AI343739,AV712217,BC010159,BC022045,CR610235,CR614348,Z68747 NP_005821,CAH72771,EAX08629,AAH22045,CAA92951,Q92665 Hs.154655 GDB:9955799 IMOGN38|MRP-S31|S31mt protein-coding 1344035 MRPS31P1 mitochondrial ribosomal protein S31 pseudogene 1 12706105 351449 NG_002842,AC104307,AY135328 pseudo 1319435 MRPS33 mitochondrial ribosomal protein S33 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q 1302857,1580863 11279123,17567985,15489334,12853948,12706105,12690205,12477932,10810093,9847074 1302857 51650 NM_053035,NM_016071,AC006006,CH236950,CH471070,AA743808,AF078858,AF151897,AI305281,AK024776,BC015462,BC105793,BP870829,BQ420818,CR604037,W95986 NP_444263,NP_057155,AAD43190,EAL24022,EAW83966,EAW83967,AAD44490,AAD34134,AAH15462,AAI05794,Q3KRB4,Q9Y291 Hs.416207 GDB:11506280 CGI-139|FLJ21123|MRP-S33|PTD003 protein-coding 1344754 MRPS33P1 mitochondrial ribosomal protein S33 pseudogene 1 12706105 148330 NG_002830,AL162591,AY135333 pseudo 1313761 MRPS34 mitochondrial ribosomal protein S34 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternate splice variants of this gene have been described but their full-length nature has not been determined. 1580863 17353931,15489334,12706105,12507520,12477932,11279123,10751423 65993 NM_023936,AC012180,CH471112,BC001182,CR592964,CR592983,CR593200,CR593465,CR594040,CR594183,CR598200,CR601645,CR609675,CR615531,CR615610,CR622418,CR623189 NP_076425,EAW85627,EAW85628,AAH01182,P82930 Hs.157160 GDB:11506282 MGC2616|MRP-S12|MRP-S34|MRPS12 protein-coding 1315499 MRPS35 mitochondrial ribosomal protein S35 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. 1302857,1580863 15300802,11279123,16303743,15489334,12706105,12477932,11543634,11344316 1302857 60488 CR595120,CR595157,CR612857,CR624689,NM_021821,AC009509,CH471094,CS051349,AF068296,AF182422,AK075378,AK075515,AL512733,BC015862,BC017086,BC028346,BC063515,BC109372 P82673,Q8NBP4,NP_068593,EAW96567,EAW96568,CAI72169,AAF65185,AAG14958,BAC11579,BAC11664,CAC21665,AAH15862,AAH17086,AAH28346,AAH63515,AAI09373 Hs.311072 GDB:11508421 DKFZp762P093|HDCMD11P|MDS023|MGC104278|MRP-S28|MRPS28 protein-coding 1351434 MRPS35P1 mitochondrial ribosomal protein S35 pseudogene 1 12706105 339910 NG_002832,AC090842,AY135337 pseudo 1350185 MRPS35P3 mitochondrial ribosomal protein S35 pseudogene 3 12706105 359779 NG_002895,AC006484,AY135339 pseudo 1319596 MRPS36 mitochondrial ribosomal protein S36 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. 1302857,1580863 11279123,15489334,12706105,12477932 1302857 92259 NM_033281,AC093223,AC145132,CH471137,AA780181,AF086034,AF271777,AL529370,BC015966,BC017900,BX951861,CR600283,CR609840 NP_150597,EAW51302,EAW51303,AAG44788,AAH15966,AAH17900,P82909 Hs.631971 GDB:11506284 DC47|MGC22896|MRP-S36 protein-coding 1605223 MRPS36P1 mitochondrial ribosomal protein S36 pseudogene 1 12706105 347705 NG_002709,AC023485,AY135340 pseudo 1605222 MRPS36P2 mitochondrial ribosomal protein S36 pseudogene 2 12706105 347706 NG_002711,AC108865,AY135341 pseudo 1605224 MRPS36P3 mitochondrial ribosomal protein S36 pseudogene 3 12706105 347704 NG_002707,AC037486,AY135342 pseudo 1605226 MRPS36P4 mitochondrial ribosomal protein S36 pseudogene 4 12706105 347702 NG_002703,AP002884,AY135343 pseudo 1605225 MRPS36P5 mitochondrial ribosomal protein S36 pseudogene 5 12706105 347703 NG_002705,AC079319,AY135344 pseudo 1605221 MRPS36P6 mitochondrial ribosomal protein S36 pseudogene 6 12706105 347707 NG_002713,AL121782,AY135345 pseudo 1318020 MRPS5 mitochondrial ribosomal protein S5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. 1580863 15489334,14702039,12706105,12477932,11543634,11402041,11344316,11279123,17353931 64969 NM_031902,AC092835,CH471219,AB049940,AK055390,AK058160,BC000219,BC014172,BG771419,CR590932,CR591639,CR602108,CR604157,CR604956,CR617860,CR618194,CR622752,CR626200 NP_114108,AAX88980,EAX10712,EAX10713,BAB40993,BAB71695,AAH00219,AAH14172,P82675,Q4ZFY5,ABM83546,ABM86786 Hs.655259 GDB:11506286 MRP-S5|S5mt protein-coding 1354008 MRPS5P3 mitochondrial ribosomal protein S5 pseudogene 3 12706105 133615 NG_002662,AC011416,AY135348 pseudo 1352597 MRPS5P4 mitochondrial ribosomal protein S5 pseudogene 4 12706105 359797 NG_002900,AC010928,AY135347,AY135349 pseudo 1312391 MRPS6 mitochondrial ribosomal protein S6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. 1580863 11279123,15489334,14702039,12706105,12477932,12036297,11543634,11402041,10830953 64968 BC051302,BG720377,CR590691,CR597333,DB571303,NM_032476,AB051347,AP000315,AP000467,CH471079,AB049942,AI799469,AK096374,AY061855,BC000547,BC004976,BC010076,BC042752 AAH42752,AAH51302,P82932,Q49A87,NP_115865,BAB54937,EAX09795,EAX09798,BAB40995,AAL35739,AAH00547,AAH04976,AAH10076 Hs.302742 GDB:11503222 C21orf101|MRP-S6|RPMS6|S6mt protein-coding 1319351 MRPS7 mitochondrial ribosomal protein S7 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. 17353931,15489334,15342556,12706105,12477932,11543634,11402041,11279123,11042152,10581179,9373149,8889548,8125298 51081 NM_015971,AB051348,AC022211,CH471099,AF077042,AK222995,BC000241,BC050641,BG034193,BP379038,BU599633,BU684092,CR599341,CR600124,CR604496,CR608852,CR609316,CR614985,CR615894,CR618302,CR620281,CR626245,CR626657 NP_057055,BAB54938,EAW89261,EAW89262,AAD27775,BAD96715,AAH00241,AAH50641,Q7L0D0,Q96Q63,Q9Y2R9 Hs.71787 GDB:11503229 MRP-S|MRP-S7|RP-S7|RPMS7|S7mt|bMRP27a protein-coding 1353428 MRPS7P2 mitochondrial ribosomal protein S7 pseudogene 2 12706105 341469 NG_002833,AC073651,AY135355 pseudo 1343907 MRPS8 mitochondrial ribosomal protein S8 1302857 11943462 1302857 GDB:11508668 1315244 MRPS9 mitochondrial ribosomal protein S9 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. 1302857 15300802,11279123,17213182,15489334,14702039,12706105,12477932,11344316,17353931 1302857 64965 NM_182640,AC010884,AC104655,AC107080,CH471127,AK001451,AK130078,AV729381,BC036575,BC047784,BC057240,CR602949,DT217261 NP_872578,EAX01767,EAX01768,EAX01769,AAH47784,AAH57240,P82933,Q6PG40,Q86WV4 Hs.590900 GDB:11506288 MRP-S9|RPMS9|S9mt protein-coding 1314201 MRRF mitochondrial ribosome recycling factor 15489334,15164053,12477932,10773675,9838146,8889549,7566098 92399 NM_199177,AL162424,CH471090,NM_138777,AK291603,AK291809,AK292790,BC002814,BC013049,BC053604,BF982227,CR612198,CR622699,CR624784 NP_620132,NP_954646,CAI14707,CAI14708,CAI14711,CAI14712,CAI14713,EAW87520,EAW87521,EAW87522,EAW87523,EAW87524,EAW87525,EAW87526,EAW87527,EAW87528,BAF84292,BAF84498,BAF85479,AAH13049,AAH53604,Q96E11 Hs.368011 GDB:9956226 MRFF|MTRRF|RRF protein-coding 732788 MRS2 MRS2 magnesium homeostasis factor homolog (S. cerevisiae) 1580863 15489334,15342556,14702039,14574404,12477932,11401429,9110174,8619474 57380 AF293076,AK054587,AK291058,BC001028,BC018833,BC069009,BP338269,CR612692,CR618724,NM_020662,AF293077,AF293078,AL359713,CH471087,AF052167,AF288288 AAK38615,BAF83747,AAH01028,AAH69009,Q96KF9,Q9HD23,NP_065713,AAK38616,AAK38617,CAI17107,CAI17108,CAI17109,EAW55445,EAW55446,EAW55447,AAG01170 Hs.533291 GDB:11500897 HPT|MGC78523|MRS2L protein-coding 1349842 MRSD mental retardation-skeletal dysplasia 4364 GDB:119398 1350863 MRT2A mental retardation, non-syndromic, autosomal recessive, 2A 10932263 266597 GDB:11510572 1323307 MRTO4 mRNA turnover 4 homolog (S. cerevisiae) This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. 16710414,15489334,15342556,14702039,12477932,12429849,11790298 51154 NM_016183,AL035413,CH471134,AF173378,AK024227,AK027569,AY303790,BC003013,BC006504,BP312953,BQ670859 NP_057267,CAI22233,EAW94873,EAW94874,EAW94875,AAD52608,BAB55205,AAP68821,AAH03013,AAH06504,Q9UKD2 Hs.463797 GDB:11510654 C1orf33|MRT4|dJ657E11.4 chromosome 1 open reading frame 33 protein-coding 1320377 MRVI1 murine retrovirus integration site 1 homolog This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restricted protein whose expression is downregulated during lymphoid differentiation. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, few of which initiate translation at a non-AUG (CUG) start site. 1580863 10321731,16990611,16344560,16166082,14729908,14702039,12480535,12477932,11309393,10724174,2271613,1538749 10335 NM_130385,NM_001100163,NM_001100167,NM_001098579,AC009532,CH471064,AF081249,AF081250,AK002039,AK127209,AL044056,AL117524,AL603309,AL832178,BC117127,DA127310,DA163499,DA185715,DA797538,DB132030,DB167290 NP_569056,NP_001093633,NP_001093637,NP_001092049,EAW68559,EAW68560,EAW68561,EAW68562,EAW68563,AAD25922,AAD25923,AAI17128,Q17S00,Q9Y6F6 Hs.501898 GDB:9956374 IRAG|JAW1L protein-coding 1349118 MRX1 mental retardation, X-linked 1 (non-dysmorphic) 3177466,1605216 4365 GDB:120193 1346923 MRX10 mental retardation, X-linked 10 1605216 4374 GDB:128746 1351389 MRX11 mental retardation, X-linked 11 1605216 4375 GDB:128747 1349536 MRX12 mental retardation, X-linked 12 1605216 4376 GDB:128748 1344586 MRX13 mental retardation, X-linked 13 1605216 4377 GDB:128749 1342752 MRX14 mental retardation, X-linked 14 8026106 4378 GDB:138453 1346270 MRX15 mental retardation, X-linked 15 8826458 4379 GDB:141728 1348880 MRX16 mental retardation, X-linked 16 9222958 4380 GDB:141729 1351501 MRX17 mental retardation, X-linked 17 7943039 4381 GDB:141879 1352610 MRX18 mental retardation, X-linked 18 7943039 4382 GDB:141880 1343365 MRX19 mental retardation, X-linked 19 7943043 4383 GDB:141881 1347738 MRX2 mental retardation, X-linked 2 (non-dysmorphic) 3177465,1605216 4367 GDB:120194 1348022 MRX20 mental retardation, X-linked 20 7573127 4384 GDB:217050 1352032 MRX21 mental retardation, X-linked 21 8230164 4385 GDB:250691 1353071 MRX22 mental retardation, X-linked 22 4386 GDB:305507 1351396 MRX23 mental retardation, X-linked 23 8852668 4387 GDB:306160 1346341 MRX24 mental retardation, X-linked 24 7726242 4388 GDB:306321 1344369 MRX25 mental retardation, X-linked 25 1362558 4389 GDB:307587 1351625 MRX26 mental retardation, X-linked 26 8826459 4390 GDB:344771 1349721 MRX27 mental retardation, X-linked 27 8826461 4391 GDB:344961 1344038 MRX28 mental retardation, X-linked 28 8826462 4392 GDB:371453 1348148 MRX29 mental retardation, X-linked 29 9001795 4393 GDB:454869 1345127 MRX3 mental retardation, X-linked 3 4368 GDB:128105 1342773 MRX31 mental retardation, X-linked 31 8826460 4395 GDB:555550 1346336 MRX32 mental retardation, X-linked 32 8826457 4396 GDB:568447 1349429 MRX33 mental retardation, X-linked 33 8826462 4398 GDB:623195 1344151 MRX35 mental retardation, X-linked 35 8825049 4400 GDB:632791 1348398 MRX36 mental retardation, X-linked 36 4401 GDB:632792 1350718 MRX37 mental retardation, X-linked 37 8826456 4402 GDB:635738 1343421 MRX38 mental retardation, X-linked 38 8826457 4403 GDB:636839 1347024 MRX39 mental retardation, X-linked 39 4404 GDB:699297 1345153 MRX4 mental retardation, X-linked 4 3177465,1605216 4366 GDB:128374 1349391 MRX40 mental retardation, X-linked 40 7581391 4405 GDB:700754 1342788 MRX42 mental retardation, X-linked 42 4406 GDB:1223811 1346244 MRX43 mental retardation, X-linked 43 10398246 4407 GDB:3800089 1350766 MRX44 mental retardation, X-linked 44 10398246 4408 GDB:3800132 1354129 MRX45 mental retardation, X-linked 45 10398246 4409 GDB:3800153 1347536 MRX47 mental retardation, X-linked 47 9332663 4411 GDB:3922520 1344090 MRX49 mental retardation, X-linked 49 9415477 4412 GDB:4093101 1352994 MRX5 mental retardation, X-linked 5 1673297,1605216 4369 GDB:128159 1351965 MRX50 mental retardation, X-linked 50 9415477 4413 GDB:4627403 1348467 MRX51 mental retardation, X-linked 51 10398244 4414 GDB:5903576 1346622 MRX52 mental retardation, X-linked 52 10398246 4415 GDB:6045064 1343090 MRX53 mental retardation, X-linked 53 4416 GDB:6276023 1353684 MRX54 mental retardation, X-linked 54 10398243 4417 GDB:6288650 1350356 MRX55 mental retardation, X-linked 55 9599645 4418 GDB:6328391 1348299 MRX56 mental retardation, X-linked 56 4419 GDB:6520168 1344831 MRX57 mental retardation, X-linked 57 4420 GDB:6520169 1348445 MRX58 mental retardation, X-linked 58 10449641 4421 GDB:6520170 1348336 MRX59 mental retardation, X-linked 59 10398241 4422 GDB:7075978 1346420 MRX6 mental retardation, X-linked 6 (Okinawa type) 1605216 4370 GDB:128055 1346876 MRX60 mental retardation, X-linked 60 4423 GDB:9120551 1344401 MRX61 mental retardation, X-linked 61 4424 GDB:9120552 1352478 MRX62 mental retardation, X-linked 62 4425 GDB:9120553 1349894 MRX63 mental retardation, X-linked 63 4426 GDB:9120555 1351278 MRX64 mental retardation, X-linked 64 9222958 4427 GDB:9834074 1343065 MRX65 mental retardation, X-linked 65 10398247 4428 GDB:9835733 1344436 MRX66 mental retardation, X-linked 66 23700 GDB:10450511 1353838 MRX67 mental retardation, X-linked 67 23699 GDB:10450512 1349954 MRX68 mental retardation, X-linked 68 23698 GDB:10794654 1346898 MRX69 mental retardation, X-linked 69 23697 GDB:10794656 1343370 MRX7 mental retardation, X-linked 7 1605216 4371 GDB:128162 1349994 MRX70 mental retardation, X-linked 70 23696 GDB:10794658 1344803 MRX72 mental retardation, X-linked 72 11050621 23695 GDB:10794660 1348254 MRX73 mental retardation, X-linked 73 11477616 23694 GDB:10794764 1352081 MRX74 mental retardation, X-linked 74 23693 GDB:10794805 1344865 MRX75 mental retardation, X-linked 75 10946355 89760 GDB:10796865 1346843 MRX76 mental retardation, X-linked 76 57193 GDB:10796867 1348650 MRX77 mental retardation, X-linked 77 12949971 93991 GDB:11508807 1353449 MRX78 mental retardation, X-linked 78 170530 GDB:11506290 1346839 MRX79 mental retardation, X-linked 79 12325019 353505 1343830 MRX8 mental retardation, X-linked 8 1605216 4372 GDB:128375 1351127 MRX80 mental retardation, X-linked 80 12949969 378483 1346112 MRX81 mental retardation, X-linked 81 12673650 266678 GDB:11510573 1342815 MRX82 mental retardation, X-linked 82 15526294 378484 1352445 MRX84 mental retardation, X-linked 84 15326629 378882 1344112 MRX86 mental retardation, X-linked 86 1351748 MRX9 mental retardation, X-linked 9 1605216 4373 GDB:128376 1343284 MRXS10 mental retardation, X-linked, syndromic 10 50828 1352701 MRXS11 mental retardation, X-linked, syndromic 11 10677307 50644 GDB:11506292 1346143 MRXS7 mental retardation, X-linked, syndromic 7 4429 GDB:6276024 1343315 MS multiple sclerosis 1383661 4397 GDB:229116 1323750 MS4A1 membrane-spanning 4-domains, subfamily A, member 1 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. 1580863 7920628,1535625,18095154,18006839,17712791,17362749,17336267,17299094,17268523,17000895,16923582,16923555,16285718,16095505,15927668,15638430,15489334,15480506,14976189,12920111,12835728,12704213,12603599,12477932,12447967,12393541,12218101,12144126,12075439,11169444,9933087,9814732,9373149,9169438,8816400,8701937,8325649,8125298,7684739,7678037,7545683,3871452,3260267,3117132,2466899,2466898,2456210,2448768,16189514 931 X12530,NM_021950,AP001034,AP003127,CH471076,L23415,L23418,L23419,M27394,M27395,AK225630,AK292168,AW504475,BC002807,CD691924,CR617832,X07203,X07204,NM_152866 CAA31046,P11836,ABM84433,ABM87498,NP_690605,NP_068769,EAW73889,EAW73890,EAW73891,EAW73892,AAA88911,AAA35581,BAF84857,AAH02807,CAA30179,CAA30180 Hs.706759 GDB:119761 B1|Bp35|CD20|LEU-16|MGC3969|MS4A2|S7 protein-coding 1316696 MS4A10 membrane-spanning 4-domains, subfamily A, member 10 Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM] 11486273,11401424,11245982 341116 NM_206893,AF354934,AF354935,AP004243,CH471076,AK122633 NP_996776,AAL07361,AAL07362,EAW73900,BAC85498,Q96PG2 Hs.591956 GDB:11508614 CD20L7|FLJ16054|MS4A9 protein-coding 1316189 MS4A12 membrane-spanning 4-domains, subfamily A, member 12 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of family members. 1580863 15489334,14702039,12477932,11486273,11401424 54860 NM_017716,AP001034,CH471076,AK000224,BC029793 NP_060186,EAW73893,BAA91020,AAH29793,Q9NXJ0 Hs.272789 Ms4a10 protein-coding 1606059 MS4A13 membrane-spanning 4-domains, subfamily A, member 13 503497 NM_001012417,AP001034,AY324188,AY324189,AY324190,NM_001100909 NP_001012417,NP_001094379,AAQ94112,AAQ94113,AAQ94114,Q5J8X5 Hs.523704 protein-coding 1606761 MS4A14 membrane-spanning 4-domains, subfamily A, member 14 14702039,12477932,11382755 84689 NM_032597,NM_001079692,AP003127,CH471076,AF367473,AK057418,AL137391,AY094610,AY094611,AY584610,BC035361,BC064627,BC107431,BC121039,BC121040 NP_115986,NP_001073160,EAW73884,EAW73885,EAW73886,AAK53409,CAB70719,AAM48587,AAM48588,AAV91959,AAI07432,Q0VAI7,Q96JA4,AAI60053 Hs.709736 MGC104289|MGC49828|MS4A16|NYD-SP21 protein-coding 1346448 MS4A15 membrane-spanning 4-domains, subfamily A, member 15 414353 1603162 MS4A15 membrane-spanning 4-domains, subfamily A, member 15 16554811,15489334,14702039,12477932,11181995 219995 NM_001098835,NM_152717,AP004243,CH471076,AK091846,AY584608,AY584609,BC031610,BI818815,CR747020,DC359370 NP_001092305,NP_689930,EAW73898,EAW73899,AAV91957,AAV91958,AAH31610,Q8N5U1 Hs.207465 FLJ34527|MGC35295 protein-coding 1350443 MS4A16 membrane-spanning 4-domains, subfamily A, member 16 414354 1350065 MS4A2 membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of family members. 1599903,1580863 9169438,2448768,18379861,18269668,17686114,17430357,17178032,17121586,17088130,17014622,16867043,16839402,16839401,16750991,15953854,15528387,15489334,15479187,15453830,15316148,15087090,14687477,12919239,12903039,12753743,12697656,12477932,12422339,12393595,12217393,12082592,12047428,11758232,11702205,11447385,11368631,11245344,11150000,11142503,11134951,9379041,9341761,8995445,8968765,8842731,8817330,8805698,8188278,8094113,8071371,7920628,7612892,7528770,2146219,1535625,1533242,1386024 1599903 2206 NM_000139,AB042033,AB080913,AP001181,CH471076,M89796,BC074800,BC074843,D10583,X66187 NP_000130,BAB17032,BAC66486,EAW73865,AAA60269,AAH74800,AAH74843,BAA01440,CAA46955,Q01362,Q14298,Q54A81 Hs.386748 GDB:132654 APY|ATOPY|FCER1B|FCERI|IGEL|IGER|IGHER|MS4A1 protein-coding 1321597 MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. 1580863 15671017,15489334,12477932,11781350,11486273,11401424,7524084,16189514 932 NM_006138,NM_001031809,NM_001031666,AP000790,AY258289,CH471076,AL601630,AY095480,BC008487,BE564041,BF210971,BG495577,CR612051,L35848 NP_006129,NP_001026979,NP_001026836,AAP14648,EAW73863,EAW73864,AAM23312,AAH08487,AAA62319,Q96HJ5 Hs.99960 GDB:392702 CD20L|HTM4 protein-coding 1315944 MS4A4A membrane-spanning 4-domains, subfamily A, member 4 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Alternative splicing of this gene results in several transcript variants; however, not all transcripts have been fully described. 1580863 16303743,15489334,12477932,11486273,11401424,11245982 51338 NM_024021,AP003127,AP003970,CH471076,AB013102,AB022821,AF068288,AF237912,AF350500,AF354928,AK075081,AK292089,BC020648,NM_148975,CR605689,CR622830 NP_683876,NP_076926,EAW73873,EAW73874,EAW73875,BAB18738,BAB61018,AAF65507,AAK37594,AAL56220,AAL08486,BAC11389,BAF84778,AAH20648,Q4JF27,Q96JQ5,ABM82321,ABM85499 Hs.325960 GDB:11504371 4SPAN1|CD20-L1|CD20L1|HDCME31P|MGC22311|MS4A4|MS4A7 protein-coding 1344858 MS4A4B membrane-spanning 4-domains, subfamily A, member 4B 11401424 83665 AF237913 GDB:11508616 1348230 MS4A4C membrane-spanning 4-domains, subfamily A, member 4C 11245982,11401424 64228 AF237914 GDB:11508621 1344823 MS4A4D membrane-spanning 4-domains, subfamily A, member 4D 11401424 83664 AF237915 GDB:11508617 1348228 MS4A4E membrane-spanning 4-domains, subfamily A, member 4E Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM] 1580863 11486273 643680 XM_931886,XM_931901,XM_943348,XM_943356,XM_001718672,XM_001718677,AF354936,AP003970,AB231725,AB231726,AB231727,AB231728,AB231729,AB231730,AB231731 XP_936979,XP_936994,XP_948441,XP_948449,XP_001718724,XP_001718729,AAL07363,BAE46883,BAE46884,BAE46885,BAE46886,Q96PG1 Hs.559934 GDB:11506294 protein-coding 1350963 MS4A5 membrane-spanning 4-domains, subfamily A, member 5 This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. 1580863 15489334,12477932,11486273,11401424,11245982,11162526 64232 NM_023945,AP003127,CH471076,CS072269,AB013103,AF237907,AF321127,BC029884 NP_076434,EAW73887,EAW73888,CAI93407,BAB18739,AAK37416,AAK01641,AAH29884,Q9H3V2 Hs.178066 GDB:11504517 CD20-L2|CD20L2|MGC34184|TETM4 protein-coding 1323386 MS4A6A membrane-spanning 4-domains, subfamily A, member 6A This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants. 1580863 15489334,12477932,11486273,11401424,11245982 64231 NM_152852,NM_152851,NM_022349,AP003970,CH471076,AB013104,AF142409,AF172819,AF212240,AF237908,AF253977,AF261136,AF286866,AF350502,AF350503,AF354930,AK026454,AK291870,BC022854,BC108728,CR606472,CR609705,CR612280,CR625448 NP_690591,NP_690590,NP_071744,EAW73866,EAW73867,EAW73868,EAW73869,EAW73870,EAW73871,EAW73872,BAB18740,AAG27920,AAQ13613,AAG41780,AAK37417,AAG44626,AAG44672,AAK37994,AAL56222,AAL56223,AAL07357,BAF84559,AAH22854,AAI08729,Q32NC2,Q7Z4E8,Q9H2W1,ABM84437,ABM87483 Hs.523702 GDB:11504519 4SPAN3|4SPAN3.2|CD20L3|CDA01|MGC131944|MGC22650|MS4A6|MST090|MSTP090 protein-coding 1347097 MS4A6B membrane-spanning 4-domains, subfamily A, member 6B 11401424 83663 AF237909 GDB:11508618 1350589 MS4A6C membrane-spanning 4-domains, subfamily A, member 6C 11401424 83662 AF237910 GDB:11508619 1352118 MS4A6D membrane-spanning 4-domains, subfamily A, member 6D 11245982,11401424 64234 AF237911 GDB:11508615 1345095 MS4A6E membrane-spanning 4-domains, subfamily A, member 6E This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. 1580863 15489334,12477932,11486273 245802 NM_139249,AP003127,CH471076,AF333758,AF354931,AF354932,BC101783,AF354933,BC034588,BC069322 NP_640342,EAW73876,AAQ14868,AAL07358,AAL07359,AAH69322,AAI01784,Q96DS6,AAL07360,AAH34588 Hs.662211 GDB:11506296 MGC126832 protein-coding 1313641 MS4A7 membrane-spanning 4-domains, subfamily A, member 7 This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. 1580863 16303743,15489334,14702039,12477932,11752456,11685457,11486273,11401424,11245982 58475 NM_021201,NM_206938,NM_206939,NM_206940,AP003127,CH471076,CQ783142,AB026043,AF201951,AF237916,AF309653,AF350501,AK075106,AV685115,AV690480,BC020673,CA449361,CD518120,CD706728,CR457187 NP_067024,NP_996821,NP_996822,NP_996823,EAW73877,EAW73878,EAW73879,EAW73880,EAW73881,EAW73882,EAW73883,CAF86349,BAB18755,AAF17243,AAK37599,AAG30930,AAL56221,BAC11405,AAH20673,CAG33468,Q6IAG8,Q9GZW8,ABM85500 Hs.530735 GDB:11504373 4SPAN2|CD20L4|CFFM4|MGC22368|MS4A8 protein-coding 1345611 MS4A8A membrane-spanning 4-domains, subfamily A, member 8A 11245982 64229 AB026044 GDB:11508620 1319151 MS4A8B membrane-spanning 4-domains, subfamily A, member 8B This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. 1580863 15489334,12477932,11486273,11401424,11245982 83661 NM_031457,AP004243,CH471076,AF237905,AF350504,BC022895 NP_113645,EAW73897,AAK37414,AAL56224,AAH22895,Q9BY19 Hs.150878 GDB:11504521 4SPAN4|MS4A4 protein-coding 1342483 MSBP1 minisatellite binding protein 1 3243550 4431 GDB:574247 1348826 MSBP2 minisatellite binding protein 2, 77kDa 2062643 4432 GDB:574248 1346252 MSBP3 minisatellite binding protein 3, 115kDa 2062643 4433 GDB:574249 1313556 MSC musculin (activated B-cell factor-1) The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. 1580863 9584154,16344560,16189514,15489334,15052269,12477932,11560778,10198176,9767165,8889548 9242 NM_005098,AC104012,CH471068,AF060154,AF087036,BC006313,BC067827,BM685164,BT007169,CR593021,CR594663,CR622554,DB257094 NP_005089,EAW86984,AAC15071,AAC69870,AAH06313,AAH67827,AAP35833,O60682,Q53XZ2 Hs.442619 GDB:9955525 ABF-1|ABF1|MYOR protein-coding 1347317 MSD microcephaly with spastic diplegia (Paine syndrome) 4434 GDB:119399 1602271 MSGN1 mesogenin 1 11124811,10837126 343930 NM_001105569,AC093731 NP_001099039,A6NI15 Hs.705359 MSOG protein-coding 732745 MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) MSH2 was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. 1580863,1625106,2293507,2293517,2293519,2293516,2293505,2293511,2293506,2293514,2293504,2293509,2293512,2293513,2293502,2293503,2293515 11920650,11920468,11910346,11890986,11879922,11877377,11859209,11857745,11857301,11809679,11782355,11748856,11726306,11606497,11600610,11579115,11562928,11555625,11531323,11524701,11498787,11474654,11429708,11427529,11208710,11158177,11104559,10978353,10874318,10856833,10783165,10777691,10713887,10693791,10612836,10528862,10469597,10051005,10023327,11999575,9843200,9788596,9777949,9774676,9740671,9718327,9709044,9621522,9559627,9490293,9428522,9373149,9311737,9298827,9259192,9240418,9217825,9111864,9087566,9060003,9048925,9024626,8993976,8872463,8858149,8797773,8769132,8723682,8700523,8690195,8566964,8484120,8261515,8252616,8156592,8125298,8062247,8036718,7973733,7874129,7726159,7713503,7604264,7585562,7585546,16189514,15647386,17353931,15619620,15753043,15105434,16403449,7923193,8942985,12034830,11809883,11756455,11801590,14706347,16388310,18481196,18381419,18364438,18335504,18325052,18270343,18265677,18265645,18257912,18202787,18186537,18181177,18091433,18061181,18033691,17987798,17982623,17942459,17939062,17894833,17785078,17720936,17711772,17653898,17652529,17611581,17601929,17582678,17569143,17566596,17531106,17505997,17493242,17483304,17479411,17473388,17454882,17426439,17417778,17414604,17367211,17351251,17350822,17348456,17333219,17312306,17275176,17259174,17250661,17228328,17224235,17219447,17165155,17160686,17139886,17109103,17095871,17076561,17051350,17039271,17039269,17011982,16995940,16985024,16951290,16940983,16929514,16918138,16908935,18270339,16902769,16885385,16874859,16810763,16807412,16786121,16774946,16773692,16740762,16696788,16684085,16636019,16614121,16569647,16541406,16500024,16451135,16426918,16353134,16341550,16252083,16237223,16234028,16203774,16199548,16143124,16116158,16106253,16086322,16061855,16051665,16012876,16003840,15996210,15959913,15952990,15904475,15886699,15870899,15862756,15858146,15856462,15855819,15849733,15832775,15831578,15816455,15808853,15807307,15786548,15782118,15774782,15735976,15713769,15613860,15596632,15571801,15527911,15523694,15520370,15503820,15489334,15467751,15467433,15467428,15375803,15365996,15365995,15350299,15342696,15340264,15309712,15241839,15216397,15200905,15161053,15064730,15063132,15062061,15043999,15043284,15042510,15015769,14961575,14760534,14716824,14714570,14676842,14657349,14645426,14635101,14631366,14580774,14574163,14562278,14529665,14526391,14500385,14499697,12938096,12930688,12920342,12912950,12817878,12810667,12808326,12799449,12792735,12754350,12712438,12697969,12694232,12688322,12684691,12684669,12660027,12658575,12632492,12627520,12622604,12610360,12595050,12584560,12582944,12549480,12522549,12494471,12477932,12469220,12454801,12447371,12419761,12414623,12391284,12203789,12171929,12124176,12095971,11799067 1625106,2293507,2293517,2293519,2293516,2293505,2293511,2293506,2293514,2293504,2293509,2293512,2293513,2293502,2293503,2293515 4436 NG_007110,AC079775,AC138655,AF066081,AY344477,AY601851,CH471053,U41221,AK222860,AK223284,BC001122,BC012599,BC021566,BX649122,DQ648894,DQ648895,DQ648896,DQ648897,L47574,L47575,L47576,NM_000251,L47577,L47578,L47579,L47580,L47581,L47582,L47583,U03911,U04045 NP_000242,AAY15096,AAC27930,AAQ23475,AAS99351,EAX00213,EAX00214,EAX00215,AAA82080,BAD96580,BAD97004,AAH21566,ABG49489,ABG49490,ABG49491,ABG49492,AAB59566,AAB59567,AAB59568,AAB59569,AAB59570,AAB59571,AAB59572,AAA76858,AAB59565,AAB59564,AAA18643,AAA61870,P43246,Q0ZAI9,Q0ZAJ0,Q0ZAJ1,Q0ZAJ2,Q53FK0,Q53GS1,Q53RU4,Q6VBB7,ABM83484,ABM86698 Hs.597656 GDB:203983 COCA1|FCC1|HNPCC|HNPCC1 mismatch repair protein protein-coding 1353031 MSH3 mutS homolog 3 (E. coli) 1625103,1600456,1580863 11895912,10944853,10871409,8851770,8838312,8029024,6323448,8942985,11809883,11756455,11427529,14657349,11005803,16388310,8782829,18364438,18355840,17950544,17676485,17494052,17456004,17205513,16774946,16552576,15541380,15489334,14871813,14625810,14510941,12477932,12014680,11920679,2722860,9774676,14578343,11498787,12171929,11274057 1625103,1600456 4437 NM_002439,AC008434,AC010270,AC022493,AY275681,CH471084,D61419,AA601983,AI817671,AK289856,BC004177,BC011817,BC017273,BC098436,BC130434,BC130436,BF593920,J04810,U61981 NP_002430,AAP13535,EAW95861,EAW95862,BAD27111,BAF82545,AAH11817,AAI30435,AAI30437,AAB47281,AAB06045,P20585 Hs.280987 GDB:641986 DUP|MGC163306|MGC163308|MRP1 protein-coding 1319392 MSH4 mutS homolog 4 (E. coli) 1580863 10928988,10809667,10029069,9787078,16189514,15304223,16122992,15907804,15489334,12591739,12477932,12095912,11950880,11948175,9299235,18270339,18166824,17869244,17127347 4438 NM_002440,AL357314,AL445464,AY268350,CH471059,AF104243,AJ844635,BC033030,U89293 NP_002431,CAI22394,AAP03427,EAX06393,EAX06392,AAD17920,CAH59752,AAH33030,AAB72039,O15457,Q5VVS4,Q5ZEZ0,ABM82185,ABM85371 Hs.216639 GDB:6820866 protein-coding 1343663 MSH5 mutS homolog 5 (E. coli) This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair or meiotic recombination processes. This protein is similar to a Saccharomyces cerevisiae protein that participates in meiotic segregation fidelity and crossing-over. This protein forms heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results in four transcript variants encoding three different isoforms. 1580863 9740671,9916805,9787078,18270339,18166824,17869244,17672918,17409188,17127347,16122992,15907804,15489334,14718574,14702039,14656967,14574404,12477932,10029069,8812450,2477242,16189514,12591739,15304223 4439 NM_025259,NM_172165,NM_172166,AF048991,AF070079,AF129756,AF134726,AL662834,AL662899,NM_002441,CR759787,CR925765,CR936239,AB209886,AF034759,AF048986,AF070071,AJ245661,AK097233,AL122094,BC001358,BC002498,BC041031,BG719397,AL844216,AY943816,BA000025,CH471081,BT007200,CB155199 NP_002432,NP_079535,NP_751897,NP_751898,AAC62534,AAC70067,AAD18072,AAD21822,CAI17722,CAI17723,CAI17724,CAI17726,CAM24984,CAI18422,CAI18423,CAI18424,EAX03518,EAX03519,EAX03520,CAQ10116,CAQ10117,CAQ10118,CAQ10619,CAQ10620,CAQ10621,CAQ08900,CAQ08901,CAQ08902,BAD93123,AAB87632,AAC62533,AAC70066,AAH01358,AAH02498,AAH41031,CAM25670,CAM25671,CAM25672,AAX20111,BAB63305,BAB63375,EAX03506,EAX03507,EAX03508,EAX03509,EAX03510,EAX03511,EAX03512,EAX03513,EAX03514,EAX03515,EAX03516,EAX03517,CAI18426,AAP35864,O43196,Q59EC5,Q5SSR2,Q9UFG2,Q9UMP2 Hs.647011 GDB:9835141 DKFZp434C1615|G7|MGC2939|MutSH5|NG23 protein-coding 1321738 MSH6 mutS homolog 6 (E. coli) This gene encodes a protein similar to the MutS protein. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides, prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein of this gene combines with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene have been identified in individuals with hereditary nonpolyposis colon cancer (HNPCC) and endometrial cancer. 1625103,1580863,1625106,1600460,2293507,2293511,2293502,2293503,2293505 15105434,16403449,11005803,12034830,8942985,11809883,11756455,11801590,14657349,10871409,8782829,18481196,18364438,18355840,18257912,18091433,18065960,18033691,18030674,17942459,17920897,17854147,17785078,17718861,17676485,17653898,17557300,17498565,17493242,17456004,17454882,18301448,18269114,17438703,17417778,17353931,17348456,17312306,17259174,17205513,17108146,17095871,17081983,17039270,16964243,16902769,16885385,16807412,16774946,16771955,16740762,16638864,16636019,16565220,16418736,16408224,16344560,16237223,16203774,16116158,16106253,16051665,15952990,15855819,15808853,15805151,15613860,15571801,15489334,15365995,15302935,15274658,15098177,15064730,15043999,14974087,14961575,14767555,14645426,14585961,14520694,14500385,12974384,12920072,12799449,12732731,12574395,12537658,12522549,12477932,12376742,12171929,12019211,11877377,11807791,11709755,11600610,11586295,11524701,11498787,11474654,11333868,11274057,11245474,10954713,10783165,10537275,10521294,10508506,10480359,9774676,9491849,9455487,9428522,9401011,9354786,8838326,7604266,7604265,7604264,16189514,15753043 1625103,1625106,1600460,2293507,2293511,2293502,2293503,2293505 2956 NM_000179,NG_007111,AC006509,AY082894,CH471053,D89645,U73737,AK130683,BC004246,BC071594,BC104665,D89646,DA857066,U28946,U54777,Y16676 ABM83824,NP_000170,AAL87401,EAX00208,EAX00209,BAA23673,BAA23674,AAB47425,AAH04246,AAI04666,BAA23675,AAC50461,AAB39212,CAC79990,P52701,Q1L838,Q3SWU9,Q6LAI4 Hs.445052 GDB:632803 GTBP|HNPCC5|HSAP protein-coding 731816 MSI1 musashi homolog 1 (Drosophila) This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. 1582664,633285,1580863 9790759,17549630,16777095,16541075,16214366,16106215,14702039,12924647,12907678,12054577,11951628,11896183,11686236,11588182,11359897,11284014 1582664,633285 4440 NM_002442,AC003982,CH471054,AB012851,AB072590,AB072591,AB072592,AB073212,AK023262 NP_002433,AAB95636,EAW98185,EAW98186,EAW98187,BAA33962,BAB69767,BAB69768,BAB69769,BAB70469,O43347,AAI40381,AAI46464 Hs.158311 GDB:9836970 protein-coding 1352746 MSI2 musashi homolog 2 (Drosophila) This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Two transcript variants encoding distinct isoforms have been identified for this gene. 15489334,14702039,12649177,12477932,11588182,10737800 124540 NM_138962,NM_170721,AC005325,AC007431,AC015883,AC091181,CH471109,AI798817,AK093888,BC001526,BC017560,BE836557,BX647939 NP_620412,NP_733839,EAW94506,EAW94507,EAW94508,EAW94509,EAW94510,EAW94511,EAW94512,BAC04244,AAH01526,AAH17560,Q96DH6,ABM83243,ABM86445 Hs.658922 GDB:11506298 FLJ36569|MGC3245|MSI2H protein-coding 1349138 MSK10 antigen identified by monoclonal antibody AJ425 6593709 4448 GDB:119401 1351323 MSK32 antigen identified by monoclonal antibody K66 3456173 4467 GDB:119422 1349659 MSK34 antigen identified by monoclonal antibody CNT/6 4469 GDB:119424 1348234 MSK38 antigen identified by monoclonal antibody O5 4473 GDB:119427 1344255 MSK9 antigen identified by monoclonal antibody K15 6593709 4447 GDB:119432 1343514 MSL2L1 male-specific lethal 2-like 1 (Drosophila) 12698291,12477932,10997877,9409833,16227571,14702039 55167 NM_018133,AC092991,CH471052,AB046805,AK001408,AK091956,AL834289,AW237818,BC032719,BC093764,BC093790 NP_060603,EAW79119,EAW79120,BAB13411,BAA91673,CAD38963,AAH32719,AAH93764,AAH93790,Q9HCI7 Hs.18631 FLJ10546|KIAA1585|MSL-2|RNF184 ring finger protein 184 protein-coding 1605696 MSL3L1 male-specific lethal 3-like 1 (Drosophila) This gene encodes a nuclear protein and has similarity to drosophila male-specific lethal-3 gene. The drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus this encoded protein is thought to play a similar function in chromatin remodeling and transcriptional regulation. This gene has been found to undergo X inactivation. There are four alternatively spliced transcript variants of this gene encoding different isoforms. 15489334,15302935,12477932,10908644,16227571,10395802 10943 NM_078629,NM_078630,NM_078628,NM_006800,AC004554,CH471074,AF117065,AK000793,AK025642,AK289780,AL050178,AL713667,BC010925,BC017267,BC031210,CR605093,CR609985 NP_523353,NP_523354,NP_523352,NP_006791,EAW98799,EAW98800,EAW98801,EAW98802,AAD38499,BAF82469,CAB43308,CAD28473,AAH31210,Q8N5Y2,ABM82587,ABM85774 Hs.655288 GDB:9958625 DKFZP586J1822 protein-coding 1344504 MSL3L2 male-specific lethal 3-like 2 (Drosophila) 151507 XM_087225,XM_939716,AC005538,BI831020,CR623684 XP_087225,XP_944809,Q6NSB1 Hs.355809 GDB:11508927 protein-coding 1349818 MSLN mesothelin An antibody that reacts with ovarian cancers and mesotheliomas was used to isolate a cell surface antigen named mesothelin. Although the function of mesothelin is unknown, it may play a role in cellular adhesion and is present on mesothelium, mesotheliomas, and ovarian cancers. This gene encodes a preproprotein that is cleaved into two products, megakaryocyte potentiating factor and mesothelin. Alternative splicing results in multiple transcript variants. 1580863 14676194,8552591,18316566,18281514,18245228,18167128,18154821,18064689,18042078,17803679,17598982,17276942,17067392,16857795,16677756,16638849,16602701,16467095,16428485,15897581,15623661,15616553,15489334,15217923,15140265,11157797,12477932,10683314,10500211,9178820,8288629,7665620 10232 U40434,NM_005823,AE006464,AL031258,CH471112,NM_013404,AF180951,AY743922,BC003512,BC009272,CR606099,CR616603,D49441 AAC50348,Q13421,Q9UCB2,ABM82874,ABW03459,NP_005814,AAK61253,CAC37289,EAW85719,EAW85720,NP_037536,EAW85721,AAF01409,AAV87530,AAH03512,AAH09272,BAA08419 Hs.408488 GDB:681155 CAK1|MPF|SMR protein-coding 69208 MSMB microseminoprotein, beta- The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. 1580863 7566962,18264097,18264096,17634540,17493883,17237810,17062675,16930619,15950934,15489334,15344909,12477932,12032598,11788998,10810306,10491085,9774712,8978767,8117114,7671139,7608123,7506990,6434350,3995056,3829888,2758596,2590204,2475560,2322265,2054385,2037304,1930232,1783399 4477 D28485,M34376,X57928,X57929,X57930,X57931,BC005257,BT006816,CR457015,M15885,S67815,U22178,U78976,NM_002443,NM_138634,AJ133356,AL450342,CH471260 EAW53684,EAW53685,AAA59871,CAA41002,AAH05257,AAP35462,CAG33296,AAA36635,AAB29732,AAA83556,AAB37355,P08118,Q5T1F1,ABM83424,ABM86637,NP_002434,NP_619540,CAB39325,CAI14475,CAI14476,EAW53683 Hs.255462 GDB:128042 HPC13|IGBF|MSP|MSPB|PN44|PRPS|PSP|PSP-94|PSP57|PSP94 microseminoprotein, beta protein-coding 732547 MSN moesin Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. 1580863 15819698,1924289,16130169,8188263,17594689,17515952,17237445,17170707,17110458,16916647,16908865,16889625,15772651,15489334,15252013,15178693,15166166,15146197,15096511,15149851,15039356,14760079,12850829,12787041,12734202,12665801,12594175,12477932,12385025,12360288,12226091,12115638,12111362,12082081,12070130,11784723,11717582,11716484,11706008,11441066,11310834,10847681,10751793,10480873,10436021,9918767,9856983,9616160,9516463,9472040,9430655,9330869,9314537,9298994,9013673,8892894,8537411,8259662,8248180,7884872,7628534,7588875,7579708,15818415,9213396,15659383,17353931,12387735,10806479 4478 NM_002444,CH471132,Z98946,BC001112,BC011827,BC017293,CN386296,CR615471,CR625525,M69066 NP_002435,EAX05398,EAX05399,CAB46379,AAH01112,AAH11827,AAH17293,AAA36322,P26038,Q6PJT4,ABM83579,ABM86818 Hs.87752 GDB:136819 protein-coding 1353422 MSNL1 moesin-like 1 8188263 4479 NG_003032,AC109469,AC113370 GDB:141983 pseudo 1343506 MSNL2 moesin-like 2 8188263 4480 GDB:141984 1347158 MSR1 macrophage scavenger receptor 1 This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimer's disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. 1582669,1580863 2251254,8093617,18436282,18398045,17903305,17805225,17768178,17709607,17627168,17361499,17237231,16750665,16598737,16425212,16344560,16287155,16144911,16114055,15824169,15734964,15714208,15556945,15493872,15489334,15042613,14759258,14695991,14614006,12958598,12839931,12819208,12477932,12471593,12244320,11882324,11785981,10381284,9548586,9422792,8900177,8394868,8391600,1519666 1582669 4481 NM_138716,NM_138715,NM_002445,AC023396,CH471080,D13263,DQ144993,S70395,AF037351,BC063878,D13264,D13265,D90187,D90188,DA995755 NP_619730,NP_619729,NP_002436,EAW63830,EAW63831,EAW63832,EAW63833,EAW63834,AAZ38715,AAC09251,AAH63878,BAA14208,BAA14209,O60505,P21757 Hs.147635 GDB:128046 CD204|SCARA1|SR-A|phSR1|phSR2 2293393,2293425,2293451 PRSTS281_H,PRSTS279_H,PRSTS204_H protein-coding 737220 MSRA methionine sulfoxide reductase A This protein is ubiquitous and highly conserved. It carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. Its proposed function is the repair of oxidative damage to proteins to restore biological activity. 1580863 10452521,17943184,17784942,16480945,16364291,16162094,15680232,15489334,15199188,14759519,12693988,12477932,12039877,8622914,16257642 4482 NM_012331,AC023385,AC034111,AC079200,AC112673,AY958432,CH471157,AF086925,AF183420,AJ242973,AY690665,AY958429,AY958430,AY958431,BC047552,BC054033 NP_036463,AAY17429,AAY17430,AAY17431,EAW65584,EAW65585,AAP97154,AAG09689,CAB59628,AAU11088,AAY17426,AAY17427,AAY17428,AAH54033,Q52TC4,Q549N4,Q66MI7,Q9UJ68 Hs.490981 GDB:5196008 protein-coding 1345900 MSRB2 methionine sulfoxide reductase B2 1580863 14699060,10375640,17943184,16480945,14980072,14759519,12477932,12220640,10810093,8749308 22921 NM_012228,AL139281,CH471072,EF444983,AF122004,AF151889,BC018030,BC066305,BC117471,BC130380 NP_036360,CAI12665,EAW86133,EAW86134,EAW86135,EAW86136,ACA05998,ACA05999,AAD38899,AAD34126,AAH18030,AAI17472,AAI30381,Q5QP77,Q9Y3D2,ABZ92470 Hs.461420 CBS-1|CBS1|CGI-131|MGC26104|MSRB|PILB protein-coding 1351511 MSRB3 methionine sulfoxide reductase B3 737633 15252450,15249228,14702039,14699060,12975309,12477932 737633 253827 NM_001031679,NM_198080,AC025419,AC026124,AC079948,CH471054,AK094185,AK122602,AK293084,AL833622,AY358229,BC040053,BX640871,BX648776,CR600087,DQ786269 NP_001026849,NP_932346,EAW97151,BAF85773,AAQ88596,AAH40053,CAE45929,CAI46018,Q6MZU8,Q8IXL7 Hs.339024 DKFZp686C1178|FLJ36866 protein-coding 1343018 MSS Marinesco-Sjogren syndrome 2791656 4483 GDB:118743 1350588 MSSE multiple self-healing squamous epithelioma 9439661 4484 GDB:128019 736655 MST1 macrophage stimulating 1 (hepatocyte growth factor-like) 1580863 18438406,17456594,16335952,16170349,15764806,14597639,12919677,12477932,12177064,11856768,11274154,10728827,10068459,9373149,9045873,8702870,8621550,8393443,8125298,2902784,1827141,1655021 4485 NM_020998,AC099668,CH471055,U28054,U37055,AK222893,BC044862,BC048330,L11924,M74178 NP_066278,EAW64999,EAW65000,EAW65001,EAW65002,EAW65003,AAC63092,AAC50471,BAD96613,AAH44862,AAH48330,AAA59872,AAA50165,P26927,Q13208,Q49A61,Q53GN8 Hs.349110,Hs.512587 GDB:128833 D3F15S2|DNF15S2|HGFL|MSP|NF15S2 protein-coding 1605605 MST150 MSTP150 16189514,15489334,12477932,11288140 85027 NM_032947,AC010441,CH471062,AF313413,AK027847,AK125286,BC009719,BC101838,BC101840,BC106040,BG911744,CR592752,CR598472,CR599530,CR606703,CR615940,CR618199,CR620757,CR620995,CR621053,CR621979 NP_116565,EAW61705,AAG53959,BAC86114,AAH09719,AAI01839,AAI01841,AAI06041,Q3MIG3,Q6ZUV4,Q7Z4C3,Q9BZL3 Hs.29444 MGC117221|MGC126887|MGC126889|NID67 protein-coding 1315099 MST1R macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1580863 9045873,10871856,15378025,15342556,15184888,15001985,14982882,14597639,12919677,12915129,12802274,12766581,12676986,12527888,12419829,12214279,8918464,8889548,8816464,8386824,8247543,8062829,7488076,7939629,18221954,18209063,18204077,18200509,18165235,18073207,18019691,17616662,17588532,17456594,17395888,17311308,16166746,16166096,15929040,15788670,15764806,15557181 4486 NM_002447,AC105935,CH471055,BP288515,CA503122,X70040 NP_002438,EAW65036,CAA49634,Q04912 Hs.517973 GDB:251941 CD136|CDw136|PTK8|RON protein-coding 1604356 MST4 serine/threonine protein kinase MST4 The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. 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. 11641781,11741893,17360971,16344560,15772651,15489334,15037601,14702039,12810671,12477932,11316611,11306563,1164178,16189514,15688006 51765 NM_016542,NM_001042453,NM_001042452,AL109749,CH471107,CQ783144,AB040057,AF231012,AF344882,AF344883,AK000556,AK027589,AK074837,AK075107,AK075150,BC013856,BC017213,BC070056,BC098315,BC099737,BC099843,BC103503,BT020099,DA760264 NP_057626,NP_001035918,NP_001035917,CAI42079,EAX11786,EAX11787,CAF86351,Q9P289,BAA92785,AAK38484,AAK29620,AAK29621,BAA91251,BAB55215,BAC11236,BAC11406,BAC11435,AAH17213,AAH98315,AAH99843,AAI03504,AAV38902,Q499L9,Q8NBY1,Q8NC04,Q96AF2,Q96SR7,Q9BXC3,Q9NWX4 Hs.444247 MASK protein-coding 736334 MSTN myostatin The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. This gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. 1601298,1580863,704404 9843994,14517293,18203713,18175804,17823296,17711997,17703271,17673556,17609255,17186467,17003236,16849634,16464946,16437538,15567067,15489334,15215484,15181048,15083369,14623262,12595574,12477932,12209887,12194980,12175483,12165013,12060865,11555072,11519824,11459935,10844590,10610713,10508689,10362012,9356471,9288100,9139826,7558031 1601298 2660 NM_005259,AC073120,CH471058,DQ927048,DQ927050,DQ927053,DQ927055,DQ927057,DQ927058,DQ927059,DQ927061,DQ927064,DQ927065,DQ927068,DQ927069,DQ927070,DQ927072,DQ927080,DQ927081,DQ927083,DQ927087,DQ927088,DQ927090,DQ927091,DQ927092,DQ927093,DQ927094,DQ927097,DQ927100,DQ927101,DQ927102,DQ927104,DQ927105,DQ927107,DQ927110,DQ927111,DQ927113,DQ927117,DQ927120,DQ927121,DQ927122,DQ927123,DQ927157,DQ927158,DQ927159,DQ927160,DQ927161,DQ927162,DQ927163,DQ927164,DQ927165,DQ927166,DQ927167,DQ927156,DQ927125,DQ927126,DQ927127,DQ927128,DQ927130,DQ927131,DQ927133,DQ927134,DQ927135,DQ927136,DQ927137,DQ927138,DQ927139,DQ927140,DQ927141,DQ927143,DQ927144,DQ927145,DQ927146,DQ927147,DQ927148,DQ927149,DQ927150,DQ927151,DQ927152,DQ927153,DQ927154,DQ927155,DQ927124,DQ927168,DQ927169,DQ927170,DQ927171,DQ927172,DQ927173,DQ927174,DQ927175,DQ927176,DQ927177,DQ927179,DQ927180,DQ927181,DQ927183,DQ927184,DQ927186,DQ927187,DQ927188,DQ927189,DQ927190,DQ927191,AF019627,AF104922,AK291524,BC074757,BX093210 NP_005250,AAY24188,EAX10880,ABI48371,ABI48373,ABI48376,ABI48378,ABI48380,ABI48381,ABI48382,ABI48384,ABI48387,ABI48388,ABI48391,ABI48392,ABI48393,ABI48395,ABI48403,ABI48404,ABI48406,ABI48410,ABI48411,ABI48413,ABI48414,ABI48415,ABI48416,ABI48417,ABI48420,ABI48423,ABI48424,ABI48425,ABI48427,ABI48428,ABI48430,ABI48433,ABI48434,ABI48436,ABI48440,ABI48443,ABI48444,ABI48445,ABI48446,ABI48479,ABI48480,ABI48481,ABI48482,ABI48483,ABI48484,ABI48485,ABI48486,ABI48487,ABI48488,ABI48489,ABI48447,ABI48448,ABI48449,ABI48450,ABI48451,ABI48453,ABI48454,ABI48456,ABI48457,ABI48458,ABI48459,ABI48460,ABI48461,ABI48462,ABI48463,ABI48464,ABI48466,ABI48467,ABI48468,ABI48469,ABI48470,ABI48471,ABI48472,ABI48473,ABI48474,ABI48475,ABI48476,ABI48477,ABI48478,ABI48490,ABI48491,ABI48492,ABI48493,ABI48494,ABI48495,ABI48496,ABI48497,ABI48498,ABI48499,ABI48500,ABI48502,ABI48503,ABI48504,ABI48506,ABI48507,ABI48509,ABI48510,ABI48511,ABI48512,ABI48513,ABI48514,AAB86694,AAC96327,BAF84213,AAH74757,O14793,Q53S46,ABZ92482 Hs.41565 GDB:7009847 GDF8 growth differentiation factor 8 1643395,1643406 BW326_H,BMD6_H protein-coding 1602702 MSTO1 misato homolog 1 (Drosophila) 17349998,11256614,16545939,16381901,15489336,14702039,12477932,11076863,9373149,9144213,8125298 55154 NM_018116,AL353807,CH471121,AF111708,AF272833,AK001366,AK056128,AK092950,AK222863,AK290610,AY334564,BC002535,BC070067,BI911005,BX537684,CR623007,CR623182,CR749791,CR936872 NP_060586,CAI13215,CAI13216,EAW53038,EAW53039,EAW53040,EAW53041,EAW53042,AAM12424,AAF81794,BAA91651,BAD96583,BAF83299,AAP94730,AAH02535,CAD97810,CAH18652,Q9BUK6,CAI59784,CAL37881 Hs.656547 DKFZp686B1757|DKFZp686I01261|FLJ10504|LST005|MST|RP11-29H23.3 protein-coding 1625804 MSTO2 misato homolog 2 (Drosophila) 16545939 664775 AL162734 protein-coding 1348338 MSTP1 macrophage stimulating, pseudogene 1 10585770 11210 NG_001241,AF083410 GDB:9957406 MSPL-1|MSPL1 pseudo 1350087 MSTP2 macrophage stimulating, pseudogene 2 10585770 11209 NG_001240,AF083411,AL137798 GDB:9957402 MSPL-2|MSPL2 pseudo 1353718 MSTP3 macrophage stimulating, pseudogene 3 10585770 11208 NG_001239,AF083412 GDB:9957398 MSPL-3|MSPL3 pseudo 1343444 MSTP4 macrophage stimulating, pseudogene 4 10585770 11207 NG_001238,AF083413 GDB:9957393 MSPL-4|MSPL4 pseudo 1343322 MSTP5 macrophage stimulating, pseudogene 5 10585770 11206 NG_001237,AF083414 GDB:9957390 MSPL-5|MSPL5 pseudo 1345770 MSTP6 macrophage stimulating, pseudogene 6 10585770 11205 NG_001236,AF083415 GDB:9957388 MSPL-6|MSPL6 pseudo 1348559 MSTP7 macrophage stimulating, pseudogene 7 10585770 11204 NG_001235,AF083416,AL021920 GDB:9957384 MSPL-7|MSPL7 pseudo 1351890 MSTP8 macrophage stimulating, pseudogene 8 10585770 11203 NG_001234,AF083417 GDB:9957380 MSPL-8|MSPL8 pseudo 1345100 MSTP9 macrophage stimulating, pseudogene 9 1580863 10728827 11223 NR_002729,AL021920,AF116647,AY192149,U28055 AAP20103,AAC35412,Q13209,Q2TV78 Hs.655432 GDB:9957456 D1F15S1A pseudo 731562 MSX1 msh homeobox 1 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. 1600484,1580863 2565810,18177186,18070437,17693062,17559452,17557248,17326252,16932841,16678795,16651263,16600910,16344560,16327884,15705871,15489334,15381719,15264286,15029481,12974677,12807959,12733956,12652527,12651933,12490878,12477932,12097313,11754469,11390985,11384957,11369996,11332647,16868654,11115394,10862767,10742093,10529415,10215616,9697309,9369446,9111364,8700832,8696335,1973146,1969845,1685479,1284527 1600484 4487 NM_002448,AC092437,AF426432,CH471131,M76731,M76732,AK290636,AU117561,BC021285,BC067353,BU624994,DB356637,M97676 NP_002439,AAL17870,EAW82420,AAA58665,BAF83325,AAH21285,AAH67353,AAA52683,P28360 Hs.424414 GDB:120683 HOX7|HYD1 homeo box, msh-like 1 protein-coding 735997 MSX2 msh homeobox 2 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. 1600491,1600492,1580863 12145306,9073066,8968743,18349132,18299954,18187185,18056036,17693062,16642368,16540516,16467978,16425399,16327884,15489334,15060165,14571277,12925529,12750290,12477932,12407713,12145310,12145307,11959851,11683913,11084035,10831122,10767351,10742103,10451362,9522127,9373945,9265625,9256341,9111364,8786091,8668339,8106171,8101453,7897272,7726844,7687426,16189514,14679154 1600491,1600492 4488 NM_002449,AC117531,CH471062,L22498,L22499,S75308,AL552909,BC015509,BT009814,CR592938,CR606816,CR622800,D14970,D26145,D31771,D89377,S75361,W38629,X69295 NP_002440,EAW61381,EAW61382,AAB42178,AAD14169,AAH15509,AAP88816,BAA03611,BAA06549,BAA13949,AAB33867,CAA49156,P35548,Q9UD60,ABM82526,ABM85721,Q53XM4 Hs.89404 GDB:138766 CRS2|FPP|HOX8|MSH|PFM|PFM1 msh homeo box homolog 2 (drosophila) protein-coding 1602108 MSX2P1 msh homeobox 2 pseudogene 1 7518789 55545 NR_002307,AC005962,X74862 CAA52855,Q14561 Hs.381329 HPX5|HSHPX5|MSX2P pseudo 1350040 MT-ATP6 mitochondrially encoded ATP synthase 6 18055910,17568559,17342424,14697245,16611712,11925565,17121862,15965056,15228605,16217706,12133827,12915481,16751614,14499622,11130070,17619138,16604388,16060290,15931342,17300808,14748908 4508 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5113,AAO67116,AAZ00038,AAX15165,BAE14221,AAO67142,BAE14247,ABB97703,ABJ89569,ABB98769,AAN14684,BAE15196,BAE12778,AAX15230,ABR95999,AAP48327,ABB97794,ABC60697,BAE10267,BAE13363,ABB98236,BAE12401,AAX15243,BAE13337,AAN14937,AAO67090,BAE10553,ABB98756,AAO88792,BAE09175,AAX53690,ABJ89114,ABR93106,BAE07511,BAE09318,ABJ89608,BAE11634,AAO66935,BAE08226,ABJ90875,AAL54584,AAY99895,AAN14860,BAE14468,BAE09292,BAE12388,ABX40046,ABS57764,ABB98704,AAX15074,ABJ89504,BAE07706,BAE12219,BAE11283,ABJ89075,BAE09123,ABB97716,AAX15451,ABB45616,ABO39340,AAX15087,ABU46864,AAZ01039,AAX15191,BAE10800,AAZ00129,ABJ89543,BAE13168,BAE14000,BAE09162,AAO88805,BAE10228,AAK17615,AAX15217,BAE14338,ABJ90888,BAE11699,AAN14959,AAP48495,BAE13935,ABS58063,BAE13857,ABC60567,ABB98639,AAY99973,ABB98886,AAO66961,ABB98509,AAZ02573,BAE13194,AAZ03327,AAX15412,BAE13480,ABO39431,ABB97755,ABB98665,ABR94532,ABL61702,BAE10345,BAE15144,ABD61139,BAE15326,AAY99986,BAE14455,ABB45512,BAE09695,BAE08083,ABO39288,BAE13870,AAX15373,ABR97698,BAE11816,AAO66974,AAP48145,BAE12258,ABB45551,BAE07654,BAE08369,ABD61152,BAE12206,BAE09305,AAO66922,BAE11686,BAE14351,AAX14983,BAE08395,ABB98093,BAE07667,ABC60723,BAE15209,BAE08070,AAZ02131,ABB98132,AAX14996,ABO39379,ABB98691,ABO39314,ABB98561,ABJ89244,AAX15607,AAX15646,ABO39765,ABD48606,ABJ89101,ABB99224,AAX15659,ABJ89788,ABR93923,ABO39236,ABJ88984,AAZ00402,ABG29212,ABB97976,AAZ02144,AAZ03249,BAE09864,BAE13077,AAX15620,AAZ02352,AAZ02911,ABJ89465,ABB98418,ABJ89023,BAE07498,AAZ01663,BAE11023,BAE14754,ABO39960,BAE07303,BAE13740,BAE08044,BAE09396,ABB99042,ABB97885,AAO88688,BAE10631,BAE08824,BAE10449,ABR94039,BAE12908,ABB98431,BAE10579,ABL60520,ABL60416,BAE12349,ABG29264,ABB51364,ABB99250,BAE12128,ABC96584,AAX45441,BAE08876,BAE15794,ABG29238,BAE08863,BAE13064,AAX15633,BAE07355,AAX45454,BAE10501,ABX40124,BAE09500,ABG29277,BAE15521,AAL54792,ABX40150,ABB45629,ABG29186,ABJ89775,ABR97114,BAE13597,ABB79344,ABR93898,ABB97963,ABX40163,ABO39249,AAZ00454,BAE14962,ABF14599,AAZ02209,ABR94260,ABB99289,AAZ39399,AAX15542,ABB97911,AAK17329,BAE12037,BAE10475,ABS58011,ABB98171,BAE11465,BAE08889,ABO39637,ABO70976,AAX47893,AAZ00922,ABB98184,BAE14884,ABL60091,AAX47828,ABB51377,BAE11452,ABB97989,BAE10566,BAE15508,ABR94597,AAX47854,ABJ90953,BAE13675,BAE15885,ABX40098,AAZ00948,ABB99107,AAZ00584,ABX40293,ABX40189,ABR97089,ABO39689,BAE11127,ABB51273,BAE08291,BAE08512,AAZ02885,ABO39791,ABR97127,BAE09877,AAZ02703,AAX15672,AAK17251,BAE14975,ABO39702,BAE15781,BAE10709,BAE12375,ABL60390,BAE09409,ABB97924,AAX15555,AAZ00376,ABB79357,AAZ00675,BAE14780,ABX40384,ABO70911,ABB99055,ABO39895,ABB98379,BAE12960,AAZ00597,AAZ30856,BAE08148,BAE13688,BAE09422,AAZ00324,AAO88844,ABB99081,AAZ02664,ABX40332,ABL60247,ABB98366,AAX47919,BAE13584,AAZ02677,ABO39869,ABR93756,BAE15924,BAE09058,AAK17524,AAZ00220,BAE10880,ABS58466,BAE09253,AAP48275,BAE14390,ABB98795,AAY99843,BAE10215,ABC96545,ABJ89127,ABO39908,ABO70924,ABJ89257,ABJ89374,ABJ89231,ABR94026,BAE12947,AAZ02326,BAE08135,ABJ89478,ABB98002,ABB98392,AAZ02391,BAE07316,ABR97335,AAZ00688,BAE10007,BAE11959,ABC96532,ABL60442,ABB98405,ABB97898,BAE07836,BAE07992,BAE09539,ABB45577,BAE11517,BAE15729,ABJ89361,BAE13285,ABL60455,AAZ03015,AAY99882,BAE14377,BAE07446,AAN14761,AAX15282,ABB97664,ABR94648,ABB98548,ABC60736,ABB45538,ABB97677,ABL61884,BAE10280,ABB98600,ABJ89413,ABR94363,ABJ89140,CAM98668,AAK17641,AAX14970,AAN14893,AAX15295,ABB79305,ABJ89309,ABR95765,ABJ89582,ABJ89439,BAE13727,ABL60143,AAZ02521,BAE09968,AAZ02157,ABL60156,AAK17290,BAE15898,ABR97854,AAX47880,ABB99094,ABR96921,ABR93795,AAZ02898,AAZ01650,BAE13090,BAE13220,BAE10514,AAX47867,ABB98353,ABB45408,BAE12154,BAE14832,ABS57907,ABL60260,BAE12323,AAX47932,ABB98080,AAX47945,ABB51247,ABX40345,ABO39882,ABO70937,ABJ90940,BAE14819,ABV26392,BAE09630,ABX40358,BAE12297,ABB99068,BAE12089,AAZ00961,BAE08655,BAE15287,ABJ89010,AAZ02404,ABX40306,ABR99270,BAE14858,ABB79630,ABB98288,AAX47906,AAZ01195,BAE08434,ABR94143,BAE14156,BAE08967,BAE09773,ABB98041,AAX15009,AAO67207,BAE13350,ABL73717,AAX15022,ABC60632,ABS87255,BAE14013,AAX15269,ABB79292,ABX40111,ABX40137,ABD48632,ABS57972,ABG29199,BAE13233,ABB98327,BAE12115,BAE07342,BAE08265,ABJ89452,ABR97802,AAZ00532,BAE07550,BAE12141,BAE11114,BAE11374,ABR95038,BAE09825,BAE08538,BAE11205,AAZ02781,BAE09032,AAZ00064,BAE07771,BAE11504,BAE11049,ABB98912,BAE13844,ABC60788,AAP48184,BAE10605,ABL61741,ABB97768,ABB98847,ABD61126,AAX15360,BAE09019,ABS57686,ABL61585,BAE14078,AAZ00259,AAX53729,ABO39418,ABX40059,BAE10826,AAZ03353,AAK17485,ABO39392,AAX15438,BAE08057,ABO39275,ABB98522,ABS87242,ABJ89166,BAE09331,BAE14520,ABJ89517,BAE12063,ABJ90862,ABB98626,AAZ01858,AAZ01988,AAZ00272,BAE13207,AAK17732,ABB79331,BAE13831,AAZ00493,BAE11777,BAE09279,ABD61178,BAE15573,BAE08278,BAE14533,BAE13402,ABL61754,BAE10397,BAE08928,ABB97820,BAE09591,ABL61598,BAE11322,ABD61165,BAE08759,ABL61715,ABB97833,ABB98899,BAE13467,ABB98496,ABJ89049,BAE09565,BAE07251,AAO66896,AAO67000,ABB98613 MTATP6 protein-coding 1344922 MT-ATP8 mitochondrially encoded ATP synthase 8 11130070,17619138,11607774 4509 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125,ABR57916,ABI33037,AAR93839,CAK19211,ABI33024,ABJ89347,ABI33011,BAE08212,AAR94099,ABJ89035,ABR98996,ABR92975,ABR57618,ABJ89321,AAR93852,AAN14727,AAZ01545,CAJ97638,AAK17393,ABR94738,AAX15567,AAR91262,ABJ89048,ABV26454,AAX15138,BAE11399,CAJ97768,AAR94060,ABN72687,CAJ97781,AAZ01428,BAE11386,AAN14738,ABB51480,AAX15151,BAE11373,BAE11360,CAJ97742,ABR57709,BAE11295,CAJ97937,ABB45693,BAE11087,BAE08134,ABI32998,AAZ01558,AAN14584,ABR57929,BAE08199,AAZ01090,ABR93014,ABB51467,ABW96382,ABW89627,AAR93826,ABI32985,AAZ01064,BAE08186,ABR57942,CAJ97612,ABX40240,ABG91378,ABI32972,BAE08173,AAR93813,ABB79226,ABY60037,ABR57955,ABI32959,ABO36813,BAE10892,AAR93904,ABR94764,CAJ98392,AAU13112,AAR93891,ABR95505,ABJ89139,ABV45660,CAJ98405,CAJ98418,CAJ98431,ABX40097,ABB45602,BAE08433,ABJ89074,CAJ97703,CAJ97924,AAR94021,AAZ01194,ABB45576,ABR92988,ABR95492,ABR99009,CAJ97625,BAE08251,ABO36826,ABR57877,AAU13177,ABV26391,ABJ89334,ABR57890,ABR57903,AAU13073,ABB45615,AAZ01116,BAE11490,BAE10931,CAJ98327,ABR95518,AAU13086,AAU13099,CAJ98340,CAJ98353,ABR99074,CAJ98366,ABJ89269,BAE10905,ABN72700,CAJ98379,AAL54583,ABR94635,AAU13138,BAE08355,AAZ01506,AAU13151,BAE08342,AAR91249,AAZ01519,ABX83712,ABY60011,ABJ89295,AAU13164,AAZ01103,CAJ97651,AAZ01532,AAR94086,ABV45816,ABX83699,ABJ89308,ABB78784,ABB79694,ABV26550,AAZ01376,BAE08238,ABB45589,ABR57851,ABB78251,ABO37034,AAX45466,ABB78628,ABV45803,AAZ02312,AAZ03287,AAR92838,AAO88466,AAX15346,AAZ00401,ABJ90952,AAZ00388,AAX15008,ABR94401,ABR94051,ABO32333,AAZ03274,AAZ02325,ABB51311,AAZ03235,ABB78355,ABR99165,AAZ00375,CAJ98444,AAR93878,BAE08420,AAK17380,ABB79252,CAJ97664,ABX40253,ABR94647,ABN42478,BAE08407,AAZ01129,CAJ98301,ABR57812,BAE10957,AAR17476,AAU13060,BAE10944,CAJ98314,ABB79070,AAZ03131,AAO88531,AAZ00349,AAZ03118,AAZ03105,ABR95024,AAO88544,AAZ03092,ABN72596,ABR94103,ABW36114,AAO88570,ABB78654,AAO88583,AAO88596,ABW36127,ABB79564,AAR92760,AAZ03079,ABB78290,AAR92812,AAN14650,ABW89653,AAX15359,ABJ90939,AAR92799,AAZ03196,ABR99152,AAZ03183,AAZ02351,AAO88492,AAR92786,AAZ02364,ABR99139,AAO88843,ABO31018,AAO88505,AAZ03170,ABE99377,AAZ00362,AAX15372,AAZ03157,AAR92773,ABB79577,ABV45829,ABB79681,AAL54739,P03928,ABR57631,AAU13125,ABJ89282,ABR57825,ABR99295,ABR95583,AAX15177,AAX45440,ABR57838,AAR93865,BAE08381,AAX45453,ABO39352,ABW89705,ABR10814,ABR10801,AAR92955,AAX15021,ABR10788,ABR10775,ABO39599,AAR93020,ABR95128,ABR93858,AAO88284,AAR93007,AAZ00518,ABF66152,AAX15528,AAZ00505,ABR99035,ABE99117,AAO88297,AAZ02221,ABR99178,AAO88882,AAR92994,ABK28821,ABB79161,AAO88310,AAZ00492,ABW36088,ABR93871,ABE99104,ABR95115,ABR94414,ABX59291,ABY66355,ABB91351,ABR93948,AAR92890,AAO88414,ABR99100,ABR93961,AAR92877,ABW36101,ABB91364,ABJ89061,ABN10409,ABJ90978,AAO88375,AAZ02260,ABO09941,ABW89692,ABR93922,ABR93935,AAO88388,ABB91338,AAR92916,ABR95076,AAX15320,AAX15333,AAO88401,AAZ00453,AAR92903,AAT37883,AAY99855,ABR94323,ABO31031,AAZ02780,ABJ90861,AAZ02507,AAR92539,AAZ00167,AAZ03144,AAR92981,ABR93884,ABB91312,ABJ90991,AAX15307,AAZ02234,AAO88336,ABD48605,ABB78589,AAO88349,ABO36995,AAR92968,ABB91325,ABR95102,ABB79603,AAZ00479,AAO88440,AAZ03378,ABD48592,ABR93974,ABB51298,ABY66368,ABB79538,AAZ02273,AAZ00440,AAZ03365,ABR99373,ABR93987,AAO88453,ABR93910,AAZ02247,ABR95089,AAZ00466,ABR93897,AAR92942,ABR95972,BAE09460,ABR95946,ABL73599,AAR95074,BAE09447,ABO39482,AAU02687,AAW58194,AAP91406,AAR95217,AAU02375,AAP91276,BAE09213,ABE27864,BAE09668,ABL60155,ABL73261,ABB78095,BAE09226,BAE09655,AAR95204,ABB99093,AAP91250,BAE09837,ABR98957,ABL60714,ABR97996,BAE09850,ABB78368,ABR99659,BAE09863,ABR97607,ABF48812,BAE09746,AAR95256,ABL60805,AAU02700,BAE09772,AAU02349,ABF48799,AAU02986,AAL54466,BAE10253,ABD98700,AAP91042,ABL60051,AAP91029,ABL60142,BAE10266,ABE99208,BAE10279,ABR98269,AAP91081,AAR95399,BAE10149,ABR96141,AAZ39372,BAE10162,ABJ99362,AAP91068,ABB98456,AAR95412,BAE10201,AAU02297,ABR98256,ABR98945,ABL73573,ABR99412,BAE10357,AAR95464,AAR95477,ABR96167,AAP91003,AAR95490,BAE10370,AAR95516,ABF49124,ABS00218,ABR97529,ABR97555,BAE10292,AAP91016,ABR99827,BAE10305,ABR97542,ABD98713,AAR95438,ABQ45179,ABS58075,AAP91289,ABR96037,AAR95191,ABR96024,BAE09642,ABR95920,AAR94970,AAW58168,ABR96063,BAE09733,AAR95243,BAE09720,ABO86183,AAW58181,ABE99312,AAN14771,BAE09187,ABR96050,ABG29198,AAP91263,ABG29185,BAE09200,AAQ19438,ABO70871,AAP91471,AAZ30777,BAE09694,ABB99314,AAU03077,AAU02362,AAZ39281,AAR94983,BAE09252,ABR97646,BAE09239,AAU02921,AAS83346,ABR97983,AAZ30764,ABB99106,AAN14947,BAE09785,AAZ39333,ABR96076,ABN13450,ABR96089,BAE09954,BAE09967,ABL60506,ABB98846,ABR98750,ABA07964,ABR96102,AAR95308,ABI51863,ABO39842,ABL60259,AAN14837,ABE99195,ABI51876,AAZ39359,ABL73586,AAR95321,AAW58155,AAU02336,BAE09889,ABI51798,BAE09902,AAW58480,ABI51811,ABF14611,ABI51824,BAE09915,AAP91237,ABB78992,ABI51837,AAR95295,ABI51850,ABB98495,ABR99814,ABL61688,ABR98659,ABD98726,ABL61675,ABF49111,ABF48760,BAE10331,ABN13437,ABR96154,AAU02284,AAR95451,ABB78719,ABL60246,BAE09538,ABB98521,AAP91328,BAE09278,ABB78173,ABR95998,ABJ99388,ABB99119,BAE09525,ABB98534,AAR95113,BAE09304,AAP91445,AAN14936,AAP91341,ABF48864,AAR94996,ABF49098,BAE09512,ABR95933,ABR99801,AAP91432,ABL73404,AAZ30738,BAE09616,AAR95178,AAZ39320,AAP91302,AAR95165,ABR96011,AAR95152,BAE09577,AAP91107,AAR95555,AAU03051,ABR96206,BAE10461,AAP90964,AAR95568,AAR95581,AAP90951,ABL60480,ABB98430,ABR98815,AAR95594,ABS58114,ABR96219,AAR95607,ABR96193,AAU02648,BAE10383,ABB78160,AAZ39385,AAP90990,AAR95529,AAZ57299,ABC70386,AAR95542,ABF48747,ABB98443,AAP90977,BAE10422,ABR97516,ABR99594,AAO88479,AAO88518,AAP90899,ABR96297,BAE10552,AAZ57286,ABY28421,AAW58454,ABR96310,AAW58441,AAZ39398,ABS58062,AAW58259,BAE09265,ABB99223,AAQ19451,AAR95139,AAZ30751,ABB98508,AAL54635,AAU02388,BAE09564,AAP91458,AAP91315,AAR95126,ABR98672,AAR95061,BAE09369,AAR95035,ABB78511,ABL60038,AAZ39307,AAZ39294,ABR97633,ABF48838,BAE09434,ABB79005,ABR95959,ABR98516,BAE09382,AAP91393,AAP91367,BAE09408,AAR95048,ABL61714,AAP91380,ABL61727,AAW58493,AAQ19464,AAU02414,AAR95100,ABR95985,AAR95087,ABF48825,BAE09486,ABB99366,ABR98282,AAP91354,AAP91419,AAU02401,AAR95022,ABR98802,ABF48851,BAE09343,CAK19133,BAE09811,ABE99299,AAR95282,AAZ39346,ABO39248,ABL60519,BAE10578,ABS57815,ABR96323,ABC70373,AAR95620,AAU02271,AAP90938,BAE10487,AAP90925,ABY28408,ABR96232,ABJ99349,ABR96258,BAE10526,ABR96271,ABR96284,BAE10539,AAW58467,AAP90912,ABS00205,ABO39274,AAR95425,AAP91055,ABL60532,AAS83333,ABL61701,AAS83320,ABL73612 MTATP8 protein-coding 1343025 MT-CO1 mitochondrially encoded cytochrome c oxidase I 11130070,12762840,17357124,15931342,15308583,11849212,17559347,18214026,16740593,17341490,16671096,12140182,14759509,15036329,14607829,17555580,11345519 4512 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01296,ABR93997,ABR93985,ABR93972,AAL54386,ABB91180,ABR93959,ABB91167,BAE12398,ABB91154,ABG91325,ABB91141,AAR91338,ABB91115,BAE12385,ABR93946,ABR93933,ABB91102,ABR93908,ABB91089,ABR93895,ABB91076,AAZ01309,ABB91063,ABB91050,ABI32642,ABR93882,ABR93869,ABB91037,AAU03049,BAE12372,AAK17612,AAK17599,AAR91364,ABI51796,ABR93662,CAJ98325,AAU03036,AAR91377,AAZ01140,AAK17573,AAK17560,BAE08899,AAK17547,AAZ01283,ABI51809,ABR93402,AAT37868,ABY60009,ABR93454,CAJ98364,ABR93441,BAE09081,ABB90998,ABB90985,BAE08457,ABB90907,AAZ01088,AAU02386,BAE09068,ABR93792,AAZ01101,BAE12359,ABI32629,ABR93779,ABR93766,CAJ98273,ABR93753,AAK17885,ABI32616,AAK17872,ABR93740,CAJ97480,AAK17859,ABI32918,ABO36928,ABO36850,AAU03088,AAZ00932,ABR94931,ABR58457,ABR58659,ABD61123,ABR95100,ABR95087,CAJ98234,ABR95074,ABR58647,ABD61110,ABB98181,AAU02568,ABB98194,ABR58634,ABR58621,ABR58609,BAE15180,AAR92589,BAE15258,AAK17534,AAK17482,ABG91363,BAE12320,AAZ01153,AAK17469,AAU02412,CAJ98338,AAK17456,AAK17443,BAE08483,ABI51822,AAK17430,AAK17846,AAU02126,AAK17833,AAK17820,AAK17781,BAE12190,BAE15323,BAE15245,AAR91351,AAK17742,CAJ98286,BAE08912,AAK17729,ABR93727,ABO40035,ABO37032,ABR93714,AAK17703,BAE12346,AAK17690,BAE12333,CAJ98299,AAK17664,ABI32603,AAZ01114,ABR93701,AAZ01127,ABB45418,CAJ98312,AAK17625,ABR95178,ABD61162,BAE12073,ABI32957,BAE15362,ABB98090,ABO39957,AAU02165,ABR58722,BAE12567,AAR91221,ABB98103,ABD61149,ABR58709,ABR95165,BAE08886,ABB98116,ABR95152 MTCO1 protein-coding 1605433 MT-CO2 mitochondrially encoded cytochrome c oxidase II 11130070,2550900,16826196,15931342,12732844,17619138,15316498,15308583,11849212,17916073,17616393,17727817,17578348,15965049,14607829,12031622,16288875,12115729,17457030,17555580,17525632,17353931,10194136 4513 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30854,ABR58673,ABW89704,AAZ00244,AAY99984,ABR57928,BAE14739,ABR58227,ABR58240,AAZ00153,ABR58253,ABR58071,BAE14726,BAE14817,CAJ97585,ABR58266,ABV45828,CAJ97611,ABR58058,ABR58045,ABR58279,AAZ00140,AAU13748,BAE14713,ABR58292,ABR58032,ABR58110,ABR58123,BAE14765,ABR58136,AAZ00179,ABR58149,BAE14778,AAU13735,ABR58097,AAZ00192,ABR58175,ABR58188,BAE14791,BAE14752,AAZ00166,ABN10369,ABR58084,CAJ97598,ABR58201,ABR58214,BAE14804,BAE14856,ABW96381,ABR58354,CAJ97546,BAE14687,BAE14869,AAZ00101,AAA31850,CAJ97533,ABR57993,AAR91261,ABR58380,BAE14882,CAJ97624,AAX15163,ABR58393,BAE14895,ABV04102,ABR58406,CAJ97572,ABV45815,AAZ00127,BAE14830,BAE14700,ABR58315,ABR58019,CAJ97559,ABR58328,ABR58006,ABV45802,ABO32332,ABV45659,AAZ00114,ABV04141,AAZ00205,BAE14843,ABR58341,ABV45644,AAB58946,ABV04128,ABR57734,BAE15246,ABO32345,AAK17717,BAE14518,ABB98962,CAJ97741,ABJ89786,BAE15415,ABJ89773,ABJ89760,AAR91287,AAZ30841,ABR58685,AAX15553,AAK17886,ABR57915,CAJ97481,ABR58697,AAY99971,ABR58710,BAE15025,BAE14635,ABR58723,AAY99958,ABR58735,AAZ30828,CAJ97494,ABR58610,AAZ30880,ABR58622,BAE14986,AAZ00010,ABR58635,ABW89665,ABW89678,ABR58648,CAJ97663,ABW89626,AAZ30867,AAK17223,ABJ89203,ABJ89151,AAZ39345,ABF48850,ABJ89138,AAU13644,AAX15488,ABF48902,ABJ89268,ABJ89034,AAR91352,BAE14284,AAZ00621,ABB91038,ABF49136,ABJ89242,ABJ89099,CAJ97949,AAR92707,ABJ89307,AAO88504,AAK17340,ABJ89190,AAL54426,BAE14141,AAZ00660,ABJ89255,ABF48824,ABJ89086,AAZ00582,AAQ19450,ABF48798,ABF49032,ABB97649,CAJ97923,ABB97662,BAE14219,AAR91235,AAR92681,AAR92668,ABB97675,ABF49045,CAJ97910,ABF49110,AAO53301,ABO39299,BAE14232,ABF49058,ABJ89372,ABJ89385,ABQ45191,AAL54478,ABQ45217,AAK17327,ABB97766,ABB97688,ABF49071,ABJ89294,ABF48876,ABF48811,BAE14167,ABJ89125,AAZ00634,AAX15215,ABD72621,ABB97844,ABF48889,AAX15631,ABJ89216,ABJ89281,ABB97831,AAR91378,ABB91025,ABF48837,ABJ89229,AAK17236,ABJ89112,ABG91377,BAE14154,AAL54504,ABN10395,AAZ39332,ABJ89164,CAJ97962,ABJ89177,ABF49123,AAR92720,AAK17210,AAT66179 MTCO2 protein-coding 1350980 MT-CO3 mitochondrially encoded cytochrome c oxidase III 11130070,16604388,12059041,12915481,16288875,12569108 4514 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7639,ABB98289,ABL61820,AAK17655,ABF49438,ABJ99247,ABL61599,ABL61586,ABL61885,AAK17707,ABB97782,ABW76517,AAK17681,ABR96636,ABR97271,ABB91145,AAR92918,AAR92905,AAZ00572,AAZ02535,AAR92892,ABR95065,AAR92879,ABB99108,ABF49412,ABB98796,ABB97717,ABR99725,AAK17564,AAL54455,ABB98757,ABF49490,ABL60456,AAU02832,ABF48918,ABW73118,ABB99160,ABB97795,AAK17369,ABB98341,ABR95130,AAR93009,AAZ02691,AAZ00546,AAR92996,AAZ02678,ABR95117,AAR92983,ABB51430,AAR92970,ABR95104,AAZ02665,AAZ02652,AAR92957,AAR92944,AAZ02639,AAZ02626,AAZ02600,AAZ02587,ABC96585,AAZ00559,AAZ02574,AAR92931,ABR95078,AAZ02548,AAZ02340,AAR92684,ABR94974,AAR92671,ABN72650,AAR92658,AAZ02314,ABN88589,ABC96611,AAZ02301,ABF84049,ABB79280,AAR92645,AAZ02288,ABR94961,AAZ02275,AAR92619,AAZ02262,AAR92606,AAZ00637,AAZ02392,ABR95013,AAZ02379,AAR92736,AAZ02366,ABB45422,AAR92723,AAZ02353,ABR95000,AAR92710,AAR92697,ABR94987,ABR95247,AAR93295,ABR95234,AAR93282,ABR95221,AAZ00416,AAZ03133,AAR93269,AAR93256,AAZ03107,AAR93243,AAZ03094,AAR93230,ABR94014,ABR95208,AAZ03081,AAZ00429,AAZ00442,AAZ00455,AAZ02431,ABR94027,ABR94040,AAZ03068,AAR93217,AAZ03055,ABO37010,ABR94053,AAZ03042,ABW36103,ABR94611,AAZ01352,AAZ01339,AAZ01326,ABR94377,AAZ00819,ABB98887,ABL60014,ABB98523,ABJ99156,AAO66819,AAU03001,AAO66806,ABB99303,ABN10398,AAU02299,ABL60027,ABR57737,ABL61703,ABR58256,AAN14564,ABB99004,AAP47990,ABR98271,ABF49178,AAP47977,AAO88507,ABI32961,ABI32948,ABR57659,ABV26456,CAH59678,ABB98107,ABB78240,ABR98258,ABR58525,ABR98284,AAP47938,ABL60183,ABI32987,AAN14542,AAP48003,ABR58344,AAN14553,ABL60196,ABR58269,AAU02143,ABI32974,ABF49282,ABB98120,ABL60248,ABL60274,ABR98349,AAO88494,ABO31020,ABW89668,AAU02585,ABL60261,ABR98323,AAO66650,ABB99017,ABL60170,AAO66637,AAP48159,ABB78305,ABB78500,ABB98588,ABR58474,AAK17213,ABR98895,ABR98882,AAO67117,ABB97730,ABR98869,AAO88702,AAU03053,ABR98856,ABR58113,ABR98180,ABR98167,ABR57646,ABB97886,ABL60222,AAO88845,ABB78513,ABB98991,ABB98159,ABL60235,AAN14575,AAP47964,AAN14586,ABF49256,ABI32935,ABR98232,AAP47951,ABB98471,ABF49191,ABR98219,ABL60209,ABO31033,ABR98206,ABB98913,ABO40026,ABR98193,ABX83688,AAX47933,ABO70886,ABB98458,ABR58448,ABB78565,ABB79449,AAL54728,ABR98362,AAO88676,ABL60469,ABL60131,AAP47925,ABF49152,AAO66663,ABR58461,ABL60144,ABB99355,ABR98401,ABR58126,ABO70873,AAP48029,ABL60118,AAO88585,AAL54715,ABB98900,ABR57672,AAX47894,AAO66689,ABB78344,ABR98388,ABR98375,ABB98003,ABB79540,AAU02988,ABI33039,AAO66624,AAU02325,AAU02871,ABI33013,ABB99368,ABW96371,ABO32322,ABI33000,AAP48016,ABR98310,AAX47920,ABB98484,ABF49165,AAU02247,ABR98297,ABJ99143,ABL60157,AAX47907,ABJ99442,AAO67027,ABR98661,ABR98674,AAU02416,ABF49048,ABB98562,ABB79566,AAO67014,ABB98549,ABR58087,AAP48094,AAU03014,ABB97587,ABR58613,ABB99030,ABR98713,ABO70899,ABB78292,ABR58777,ABL60443,ABL60794,ABV26393,AAU02728,ABB98406,AAO67053,ABB78578,AAP48120,ABJ99429,ABR58651,ABJ99169,ABR58370,AAO88767,ABF49035,ABF49022,ABB98133,ABR57775,ABL61677,AAO66949,AAO67040,AAP48081,ABB78552,AAU02572,AAO67066,ABB78838,ABL61729,ABB98094,ABB78487,ABB79423,ABB98601,AAO67234,ABB99264,ABR99050,AAU02962,ABB78812,ABG54200,AAP48185,ABO20752,ABR98921,ABG54226,ABR58675,ABB98211,ABR98908,ABR58217,ABG48650,ABR58512,AAO67104,ABF49009,ABR98791,ABR98778,ABL60313,ABJ99416,ABB78110,AAO67091,AAP48133,AAO67079,ABR98765,ABR98752,ABL60781,ABL61742,ABB98419,ABB98445,ABB97704,ABR58282,ABR98843,ABB99290,ABR58663,ABB78526,AAO88455,AAX47842,ABR98817,ABB78825,ABR98804,AAU02780,AAP48146,AAP47899,AAL54689,ABJ99390,ABQ09380,AAU02234,ABN10359,AAO67221,AAO67182,AAU02507,ABR98998,ABB79462,AAO88442,ABB78136,AAK17252,AAO88650,ABR98985,AAU02845,ABR57788,ABF48996,AAX47829,ABB78656,ABR98972,ABR98959,ABR99037,ABB78175,ABR58625,AAO67208,ABO70951,ABR58435,ABL60755,AAL54468,ABB78396,ABR58061,ABR99024,ABB98978,ABR57801,AAO67195,ABL61664,ABB78253,AAU02455,ABR98726,ABJ99455,ABB98536,ABR58230,AAU03027,AAO67001,ABB98861,ABB98393,ABR98648,ABR58816,AAL54702,AAP48107,ABB78422,CAH59699,ABB78188,AAU03040,AAO66975,ABB98575,ABR98739,AAX47855,ABL60768,ABR98947,ABR58074,AAO67169,ABB78383,ABR98934,AAO67156,AAO67130,ABB99277,AAU02923,ABB97808,AAX47816,ABR57814,ABL61651,ABO40039,AAP48198,ABB98029,ABB99043,ABL60729,ABB79605,ABL60742,AAP48211,ABR99063,ABB97613 MTCO3 protein-coding 1344890 MT-CYB mitochondrially encoded cytochrome b 11130070,17015183,12391595,12686403,14735157,12031626,16008558 4519 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9091,ABB79104,ABJ99201,ABB79117,ABB79130,ABB98425,AAO88630,AAO88617,AAO88604,AAO88591,ABB98412,AAO88474,AAO88435,AAO88422,AAO88344,AAO88331,ABB98399,ABB98386,ABB98373,ABB98360,AAL54773,ABB79715,AAO88734,ABB98490,ABB98464,ABB98451,AAO88708,AAO88695,AAO88656,ABB98438,AAP48502,AAP48515,ABL61631,AAP48528,AAP48541,ABL61618,ABL61605,ABB99023,ABL61592,ABL61748,AAP48373,ABL61735,AAP48386,ABL61696,AAP48399,AAP48412,AAP48424,AAP48463,AAP48476,ABL61683,AAP48489,ABL61670,ABL60748,ABL60722,ABJ99448,ABL60709,ABL60696,ABL60657,ABL60644,ABL60631,ABL60618,ABL60605,ABL60592,AAP72381,AAP72376,ABR93672,ABR93646,AAP47944,AAP47970,AAP48035,AAP48048,AAP48061,AAP48074,ABL61852,AAP48139,ABL61839,ABL61787,ABL61774,AAP48178,ABL61761,AAP48191,ABU50145,AAP48204,AAP48243,AAP48256,AAP48282,AAP48295,AAP48321,AAP48360,ABB99062,ABR93256,ABR93204,ABR93178,AAP47892,AAP47931,AAO66786,ABL60124,AAZ01943,ABL60111,AAZ01930,AAO66812,AAZ01891,AAO66838,AAZ01878,AAO66851,AAZ01865,AAO66864,AAO66877,AAZ01839,AAO66890,AAO66916,AAZ02138,AAZ03321,AAZ03282,ABL60449,AAZ03256,AAZ03243,AAZ03230,ABL60436,AAZ03217,AAZ03204,AAZ02463,AAZ02437,AAZ02424,ABL60228,ABC96591,ABC96578,ABC96552,AAZ02411,ABC96539,ABL60215,ABL60202,AAZ02385,ABB98906,ABL60189,AAZ02307,AAZ02294,AAZ02281,ABC96448,ABC96422,AAZ02268,ABC96409,AAZ02229,AAZ02788,AAZ02762,ABL60319,AAZ02723,ABJ99396,ABL60306,AAZ02710,AAZ02697,AAZ02684,ABL60293,AAZ02671,ABL60280,AAZ02645,AAZ02606,ABL60267,AAZ02567,ABL60254,AAZ02554,AAZ02541,ABL60241,AAZ02528,AAZ02515,ABC96643,ABN72708,ABD61120,ABN10404,ABV26399,AAZ57294,ABO70957,ABF48807,AAZ02060,AAO66630,ABJ99383,AAO66643,AAO66669,AAO66708,ABL60163,AAZ02034,AAZ02021,AAZ02008,AAZ01982,AAO66747,AAZ01969,AAO66773,AAU03007,AAU02981,AAU02968,AAU02955,AAU02942,AAO67110,ABB51410,AAU02864,ABB51397,AAU02851,AAO67136,AAU02838,AAU02812,ABL60020,AAO67149,AAU02799,AAU02786,AAU02773,AAU02721,AAO67175,AAU02708,AAO67201,ABB51475,ABL60085,AAO66994,AAO67007,ABB98893,ABB51462,AAO67020,AAO67033,AAZ01748,ABL60072,ABB51436,AAO67046,AAO67059,ABJ99370,AAO67072,AAU03072,AAU03059,AAU03046,AAO67084,ABB51423,ABL60059,AAU03033,AAO67097,AAZ03126,AAZ03074,ABL60410,ABL60397,AAZ03009,ABL60384,AAZ02996,AAZ02983,ABL60371,ABL60358,AAZ02944,AAZ02931,AAZ02918,AAZ02905,AAZ02892,AAZ02866,AAZ02853,ABB98945,ABL60345,ABL60332,ABB98932,ABB98919,ABJ99435,ABB98997,ABB98984,ABJ99422,ABL60540,ABL60527,ABL60514,ABU40212,ABL60501,ABB98958,ABL60488,AAZ03373,ABL60475,AAK17895,ABN72617,AAK17752,ABF49223,ABD61159,AAK17440,ABF49210,AAK17557,ABF48768,ABO70892,ABO70918,ABF49509,AAK17258,AAK17297,ABN10378,ABD61172,ABN13497,ABF49327,ABF49041,AAK17765,AAZ57307,AAK17544,AAK17882,AAK17609,AAK17388,AAK17531,AAK17817,ABW89700,AAZ57255,AAK17726,ABD61198,AAK17232,AAK17492,ABF49145,ABN13510,ABO70983,ABN72682,AAK17596,ABF48859,AAK17713,ABN72669,ABD61146,ABD61211,ABD61224,ABO70931,ABW76458,AAK17336,AAK17401,AAK17804,AAK17739,ABY82469,AAK17869,ABW76471,ABF49392,ABF49249,ABV79955,ABN72643,AAZ57268,ABN72630,ABN72721,ABF49548,ABF49067,ABN72656,AAK17648,ABN10391,AAK17856,ABD61133,ABF49314,AAK17830,AAZ57229,AAK17843,AAK17219,AAK17778,AAK17245,ABF83969,ABF48898,ABD98708,ABW89713,ABN72695,ABO70944,ABD61185,ABO70879,ABF14619 MTCYB protein-coding 1349540 MT-ND1 mitochondrially encoded NADH dehydrogenase 1 11130070,3921850,12762840,17209039,18194667,17684475,16784756,18082471,14580860,17717444,17619138,17429906,17200023,17045122,17035175,16884381,16759180,16604388,16414144,16060290,15975594,15952130,15860916,15696471,15533721,15265369,15108120,14680844,14671420,12670626,12618962,12133550,12100083,15505787,15466014,12111463,17434142,17562939,14759509,15038995,16137960,17454741,12756609,16828917,11418099,15110773,6402020 4535 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3,AAZ00644,AAZ00631,BAE12292,BAE09690,BAE12305,BAE08494,BAE08481,AAZ02269,AAZ03309,BAE08949,BAE08975,ABM68857,AAZ02282,BAE08988,AAZ00358,BAE09001,BAE09014,AAZ02685,BAE09781,AAZ02295,AAZ02932,BAE09027,BAE09222,ABN72605,AAZ02581,BAE12396,BAE09170,BAE12617,BAE12630,AAZ00345,BAE09820,AAZ02516,AAZ02880,BAE09066,BAE09235,AAZ02867,AAZ00332,BAE12643,AAZ03361,AAZ03374,AAZ02854,AAZ00306,AAZ00293,AAZ02334,ABS57630,BAE12006,BAE12019,BAE12045,BAE08884,ABN58519,AAZ00774,BAE12071,BAE08520,AAZ02607,BAE07246,AAZ00761,AAZ02997,AAZ02191,AAZ00618,BAE12318,AAZ00605,ABN72670,BAE10901,AAZ01853,BAE10888,AAZ03101,BAE09469,ABN72631,AAZ01827,BAE08715,AAZ01164,AAZ01788,AAZ01775,BAE10875,BAE09196,BAE07610,BAE08208,BAE07623,BAE08195,BAE08182,AAZ01281,BAE08169,BAE08156,ABX83682,BAE08143,BAE08130,AAZ01294,BAE08117,BAE08845,AAZ01671,BAE08104,BAE07662,BAE08351,AAZ01229,BAE08338,BAE08325,AAZ03166,AAZ01242,BAE09495,BAE08312,BAE08299,AAZ01255,BAE08286,BAE08247,BAE08754,BAE07571,BAE07584,BAE08234,BAE08221,BAE12565,AAZ00423,AAZ00410,BAE12578,BAE12591,BAE12409,AAZ02204,BAE09729,AAZ00488,BAE12422,BAE12435,BAE12448,BAE08442,BAE12461,BAE12734,BAE12474,BAE12487,AAZ02568,BAE12500,BAE12513,BAE12526,AAZ02217,AAZ00475,AAZ02945,AAZ02230,BAE09326,BAE12539,BAE12552,ABO13977,AAZ02243,AAZ00436,BAE09742,BAE12721,BAE12656,AAZ02360,BAE09846,AAZ00280,ABM68844,AAZ02373,BAE09859,ABN72592,AAZ00267,AAZ00254,AAZ02386,AAZ02399,BAE09079,AAT37879,AAZ02750,AAZ01359,AAZ01372,AAZ01385,BAE07532,AAZ03179,AAZ01190,AAZ01762,AAZ01749,BAE08741,BAE07545,BAE08403,AAZ01216,AAZ02802,AAZ01736,AAZ01710,BAE08390,BAE09261,AAZ01684,BAE08377,BAE08364,BAE10914,BAE07480,BAE09456,ABN72618,AAZ02256,BAE09755,BAE08910,AAZ00371,BAE09768,AAZ02529,BAE12604,BAE12708,BAE08923,ABS57604 MTND1 protein-coding 1350157 MT-ND2 mitochondrially encoded NADH dehydrogenase 2 1581054,1581055,1581056 11130070,3921850,9475751,17684475,18031868,16784756,15931342,18082471,17636359,17510502,17277043,16897192,15068427,14604458,15680495,12782420,17717444,17541740,16763358,16520888,16271520,16266403,15975594,15888325,15680405,15262184,15211636,14688809,12520145,12086702,12039661,11735027,11573146,16996290,12111463,15069201 1581054,1581055,1581056 4536 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R93446,ABR95320,ABR95333,ABJ89006,BAE12189,AAW58516,AAT37880,AAR93771,ABR95463,AAR93797,ABR95476,ABN58520,AAR93810,AAR93823,ABR95489,AAR93849,AAR93862,AAR93875,ABJ89123,ABR95502,AAX15291,ABV26388,AAR93888,ABJ89136,ABA07961,AAR93511,AAR93524,ABJ89019,AAR93537,AAR93550,AAR93563,ABR95359,AAR93576,BAE12176,ABR95372,ABO32317,AAR94187,BAE11877,ABV04100,AAR94200,AAW58555,ABJ89188,AAR94213,ABR95645,AAR94226,AAR94239,ABR95658,AAR94252,AAR94265,ABR95671,AAR94278,AAR93901,AAX15278,BAE11916,AAR93914,ABR95528,AAR93927,AAR93940,AAR93953,ABR95541,ABV26401,ABF48978,AAR93966,AAR93979,AAR93992,AAR94005,AAX15265,AAR94018,ABJ89149,ABV26414,AAR94031,ABV04139,ABR95567,AAR94044,AAR94057,AAR94070,ABR95580,AAR94083,ABV04126,ABO32343,ABA07974,AAR94096,AAR93498,AAR93472,AAR93485,AAR93589,AAR93602,AAX15356,AAR93615,AAR93628,AAR93641,ABF49199,ABR95398,AAR93654,ABJ89084,AAW58529,AAR93667,ABJ89097,AAR93680,ABR95411,AAR93693,ABJ89110,BAE12085,ABR95593,AAR94122,AAR94135,ABR95606,ABV26451,AAR94148,AAR94161,BAE11136,ABR95619,ABR94670,ABR94657,ABR94619,ABR94606,ABO37044,ABR94593,ABG91311,ABR94580,AAR93147,AAR93134,AAX15395,AAR93121,AAR93108,ABR93778,ABR93765,ABR93739,ABR93726,ABR93713,ABR93700,AAP47881,ABN72606,ABR93375,ABR93362,CAJ97492,ABR93349,ABN72619,ABR93323,ABR93310,ABR93297,AAW58425,ABF49238,ABN72632,BAE12566,BAE12540,ABR93479,ABR93466,CAJ97453,BAE10928,ABR93453,ABR93440,CAJ97466,ABG38198,ABR93427,ABN72593,ABR93414,ABR93401,CAJ97479,ABR93388,ABR94541,AAP47920,AAX15473,ABR94515,ABR94502,ABG91362,AAW58464,ABR94489,ABR94476,ABG91375,ABR94424,ABX40055,ABR94567,ABR94554,ABG91324,ABX40094,ABR94100,ABR94087,AAX15564,ABR94048,ABR94035,ABX40107,ABR94022,AAX15603,ABR93984,ABR93958,AAW58451,AAX15616,ABR93945,ABX40120,ABR93932,AAX15629,ABR93919,AAX15499,ABR94346,ABR94320,ABR94282,ABR94269,ABR94256,ABR94243,ABR94230,AAX15525,ABR94204,ABR94178,AAX15538,ABR94165,AAP47907,ABR94152,ABR94139,BAE12488,ABR94126,ABR94113,BAE12046,AAR93706,AAR93719,AAR93732,ABR95437,AAR93745,BAE12020,ABR95450,AAR93758,AAX15304,BAE11994,AAW58542,AAR93095,ABR95164,ABO36849,AAR93082,AAR93056,AAR93043,ABX40159,ABH03921,ABH03922,ABH03923,ABH03924,ABH03925,ABH03926,ABR93648,ABR93635,ABF48965,ABH03928,ABH03929,ABR93609,ABR93596,ABR93570,ABR93557,ABR93505,AAW58438,ABR93492,ABR93907,ABR93894,ABX40133,ABR93881,ABR93868,ABR93855,AAX15668,ABR93842,ABR93829,ABR93804,ABR10785,BAE11006,ABR93791,ABR94411,ABR94398,ABX40068,AAX15486,BAE12475,ABR94385,ABR94372,ABR94359,ABR94735,ABR94722,ABO36992,ABO37005,ABO37018,ABR94709,ABR94696,ABO37031 MTND2 protein-coding 1343728 MT-ND3 mitochondrially encoded NADH dehydrogenase 3 11130070,14604458,18082471,17701054,15931342,17717444,17620498,17429907,17081685,17066297,16140977,15975594,15827561,15211636,11607774,17152068,17413873,16023078,14764913 4537 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BAE07240,BAE07227,ABX83614,ABG48651,AAL47651,AAL47652,AAL47654,ABG54149,ABG54175,ABG54188,ABG54227,AAL47655,BAE07682,ABX83689,BAE07669,AAR91278,AAR91291,BAE07630,BAE10973,BAE10960,BAE10947,BAE10934,BAE10921,BAE10895,BAE10882,BAE08436,BAE08397,BAE08371,BAE08358,ABO20753,BAE08332,BAE08319,BAE08306,BAE08293,BAE08267,BAE08241,BAE08228,ABB45410,ABB45423,BAE08189,ABB45436,ABB45449,BAE08163,BAE08150,ABB45462,ABB45475,BAE08137,AAZ30767,AAZ30780,AAZ30793,ABB97653,ABB97640,AAP47965,ABB51327,ABB97627,ABB97614,ABB97601,ABB97588,ABB97575,ABB97562,ABB51340,ABB51353,ABY28424,ABB51366,AAX53692,ABB51379,BAE07344,AAX53796,AAP48238,ABB99369,ABB99356,ABB99343,ABB99330,ABB99317,ABB99304,ABB99291,ABB99278,ABB99265,ABB99252,ABB51392,ABB51431,ABB51444,ABO36894,ABB51496,AAZ03368,AAZ03355,AAZ03342,AAZ03329,AAZ03316,ABN72599,AAZ03303,ABU46905,AAZ02367,ABU46931,ABB91159,ABB91146,ABB91133,ABB91120,ABU46957,ABB91107,ABU46970,ABB91094,ABB91068,ABB91042,ABB91029,ABB91016,ABB91003,ABB90990,AAZ02354,AAZ02328,ABU47035,ABB98901,ABB98888,ABB98875,AAX53731,AAP48160,ABB98758,ABB98745,ABB98732,ABB98719,ABB98706,ABB98693,AAP48147,ABB98680,ABB98667,ABB98654,ABB98641,ABB97965,ABB97952,ABB97939,ABB97926,ABB97913,ABB97900,ABB97887,ABB51288,ABB97874,ABB97861,ABB97848,ABB97835,ABB97822,ABB97809,ABB97796,ABB97783,ABB97770,ABB97757,ABB51301,ABB97744,ABB97731,ABB97718,ABB97705,ABB51314,ABB97692,ABO36881,ABB97679,ABB97666,ABB98277,ABB98264,ABB98251,ABB51249,ABB98238,ABB98225,ABB98212,ABB98199,ABB98186,ABB98173,ABB98160,ABB98147,ABB98134,ABB98121,ABB98108,ABB51262,ABB98095,ABB98082,ABB98069,ABB98056,ABB98043,ABB98030,ABB98017,ABB98004,ABB51275,ABB97991,AAP48095,ABB97978,AAP48082,BAE10438,BAE10451,BAE10477,ABS58286,BAE09008,BAE08969,BAE10074,BAE08943,BAE08930,ABS58130,BAE08917,ABS58156,ABC60920,BAE09684,BAE15276,BAE15289,BAE15315,BAE15328,ABC70337,BAE11961,BAE14639,ABC70350,BAE11948,BAE14691,ABC70376,BAE11935,BAE14717,BAE14730,BAE14743,BAE14756,BAE14769,BAE14782,BAE11909,BAE14821,BAE14834,BAE14860,BAE14886,BAE14899,BAE14925,BAE15380,BAE11623,BAE15445,BAE11597,BAE11584,BAE15484,BAE11571,BAE15497,BAE15510,BAE15536,BAE15562,BAE11558,BAE15575,BAE15614,BAE15640,BAE15653,BAE15757,BAE11532,BAE15783,BAE15796,BAE15809,BAE15822,BAE15835,BAE15861,BAE15887,BAE15900,BAE15926,BAE12520,BAE12507,BAE12481,BAE13781,AAL54430,BAE12468,BAE13794,BAE13807,BAE13820,BAE12455,BAE13833,BAE12429,BAE13846,BAE12403,ABS57857,ABC60894,BAE09632,BAE09255,ABC60907,ABS57870,BAE09242,BAE09229,BAE09216,BAE09645,BAE09671,BAE09203,ABC60712,ABC60699,ABC60686,BAE09359,ABC60738,ABC60673,ABC60660,ABS57688,ABC60647,ABS57740,ABC60634,ABC60621,ABC60608,ABC60595,ABC60582,ABS57637,BAE09398,ABC60751,ABC60569,ABC60556,BAE09333,ABC60530,ABC60933,ABS57909,BAE09697,ABC60946,ABS57922,BAE09736,BAE09177,BAE09164,BAE09762,BAE09775,BAE09801,BAE09151,BAE09814,BAE09827,BAE09840,BAE09853,ABS57935,ABS57948,BAE09866,BAE09879,ABS57974,BAE09892,BAE09125,BAE09112,ABS57987,BAE09086,BAE09073,BAE15068,BAE11792,BAE15094,BAE15107,BAE11779,BAE15133,BAE15146,BAE15159,BAE15172,BAE15185,BAE15198,BAE15211,BAE11701,BAE11688,ABG29188,ABG29201,BAE15237,ABG29214,ABG29227,ABG29240,ABG29253,ABG29266,ABG29279,BAE15250,BAE14964,BAE14977,BAE14990,BAE15003,BAE15029,BAE11818,BAE15055,BAE11519,BAE11506,BAE11467,BAE11454,BAE11441,BAE11428,BAE11389,BAE11376,BAE11350,BAE11337,BAE11324,AAT66183,BAE11311,BAE11285,BAE11272,BAE11259,BAE11233,BAE11181,BAE11168,BAE11155,BAE11129,BAE11116,BAE11090,BAE11077,BAE11064,BAE11051,BAE11038,BAE10999,BAE11649,BAE15367,BAE13859,BAE12377,AAL54396,BAE13872,BAE12351,BAE13924,ABS84037,BAE13937,ABS84050,BAE13950,BAE12325,BAE13963,BAE12299,BAE13976,BAE13378,BAE13391,BAE13404,BAE13417,BAE13443,AAL54560,BAE13157,BAE08475,BAE13170,BAE08462,BAE13196,BAE13209,BAE13222,BAE13235,AAL54586,BAE12715,BAE13287,BAE12702,BAE13326,BAE12676,BAE13339,BAE13352,BAE13365,BAE10802,BAE10828,BAE08644,BAE10841,BAE10854,AAL54807,BAE12754,BAE12767,AAL54794,BAE12780,BAE12793,BAE08631,BAE12806,AAL54755,AAL54729,BAE12832,BAE12845,BAE08618,BAE12884,AAL54703,BAE08579,BAE12897,BAE08566,BAE12923,AAL54651,BAE12949,BAE12962,AAL54638,BAE08553,BAE09489,BAE09502,BAE09515,ABC60803,BAE09528,BAE09307,ABC60816,BAE09541,BAE09294,ABC60829,ABC60764,BAE09411,BAE09424,BAE09437,ABC60777,BAE09476,ABC60790,ABS58000,BAE09931,BAE09944,ABO14166,BAE09060,ABS58013,BAE09047,BAE09970,ABS58026,BAE09996,BAE10009,BAE10035,ABS58052,BAE09034,BAE10048,ABS58065,BAE09021,BAE10061,ABS58091,ABS58104,BAE10269,BAE10282,BAE10308,BAE08891,BAE10321,BAE10334,BAE08878,BAE08865,BAE08852,BAE10373,ABS58312,BAE10399,BAE08839,BAE08826,BAE08813,BAE10412,BAE10425,ABS58403,BAE13001,BAE13027,BAE13040,AAL54612,BAE13053,BAE13079,BAE13092,BAE08514,BAE13118,BAE13131,BAE13144,BAE09554,ABC60842,BAE09281,ABC60881,BAE09593,BAE09606,BAE14106,BAE14119,BAE12221,BAE14132,BAE12208,BAE14145,BAE14158,BAE14171,BAE12195,BAE14210,BAE14223,BAE14249,BAE14288,AAZ01392,AAZ01106,AAZ02107,ABU50140,AAZ02055,AAZ01925,ABC96534,AAZ02029,BAE12234,BAE14327,BAE12169,BAE12156,BAE14340,BAE12143,AAZ01899,ABC96547,AAZ01886,ABO36907,AAZ01275,AAZ02003,AAZ01080,AAZ01834,AAZ01223,ABO09930,AAO88807,ABC96404,AAZ01405,AAZ01847,AAZ01210,AAZ02016,AAZ01093,ABC96495,ABC96612,AAZ01353,AAZ01418,ABC96573,AAZ01132,AAZ01964,AAZ01860,AAZ01990,AAZ01054,AAZ01665,AAZ01951,AAZ01652,ABC96391,AAZ01938,AAZ01613,AAZ02120,ABC96599,AAZ02146,AAZ01067,AAZ01041,AAZ02133,AAZ01977,ABJ99300,ABC96638,AAZ01119,BAE13456,BAE13482,BAE13495,BAE13508,AAL54534,BAE13534,BAE12624,BAE13547,BAE13560,BAE13573,BAE13586,BAE12611,BAE13599,BAE12598,BAE13677,BAE13690,AAL54482,BAE13729,BAE12559,BAE13742,BAE13755,AAL54469,BAE13768,BAE12130,BAE14379,BAE14392,BAE14405,BAE12104,BAE14418,BAE14431,ABS87244,ABS87257,BAE12091,BAE14444,BAE14457,BAE14470,BAE12039,BAE14483,BAE12026,BAE14509,BAE14522,BAE14535,BAE14548,BAE14561,BAE14574,BAE14587,BAE14600,BAE11987,BAE14613,BAE14626,BAE11974,BAE13989,BAE14002,BAE12286,BAE14015,BAE14028,BAE14041,BAE12273,BAE12260,BAE14080,BAE14093 MTND3 protein-coding 1344993 MT-ND4 mitochondrially encoded NADH dehydrogenase 4 1581057,1581058,1581059 11130070,3921850,17517394,15840367,17160945,17069814,17045122,16604388,15975594,15952130,15696471,14671420,11843871,17723226,17509949,17382898,16364244,16137960,17300996 1581057,1581058,1581059 4538 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2,BAE10037,ABJ88988,AAX14974,ABS58457,ABO32338,BAE12509,ABB90914,ABR98833,AAQ19352,ABR98911,ABO70876,BAE12275,AAZ03045,AAP91294,ABC70342,AAP91359,ABR98898,ABR99702,BAE15265,AAP90007,ABB91018,ABR99715,ABB78971,ABB79608,ABB79166,ABS58470,ABJ89638,AAK17788,ABB78945,AAO88458,ABR98872,ABB91005,ABJ99393,AAU13260,AAR94949,ABV79952,AAP89825,ABR95964,ABB98773,ABI32792,AAR95066,AAR95053,BAE12665,ABR95951,AAR95040,AAR95027,ABR95938,AAR95014,AAZ01992,AAZ02733,AAR95001,ABR95925,AAR94988,ABJ89456,AAR94793,ABR95834,AAR94780,ABB97837,AAR94767,ABB51498,ABL73305,BAE13198,BAE14979,AAR94754,BAE08685,AAZ03370,ABR95821,AAR94741,ABB78152,ABF49350,AAR94728,BAE11417,AAR94715,ABB51485,AAK17658,AAL54783,AAZ03357,AAR94702,ABR95808,AAR94676,AAZ00263,AAR94663,BAE13185,AAP90774,BAE14992,AAP91333,ABG29255,AAZ00900,AAR94884,ABF49376,ABR95873,AAR94871,AAP90696,AAP89266,AAP91112,AAP48214,BAE09868,ABS00067,ABR97093,AAP89214,ABJ89131,ABR97080,AAX47845,ABW89697,ABR57688,AAP91125,ABB97668,AAP48305,BAE11755,ABR97067,ABS58249,ABR97054,AAO88757,ABB99020,ABR97041,AAP48318,AAU13065,ABR97028,ABU40222,ABN72718,AAP89799,ABR97015,BAE08607,ABL60615,ABR97002,ABO39782,ABR97196,ABB97655,ABJ99315,AAP48266,ABR97183,AAP48279,AAP91411,ABO39795,BAE12886,AAP90826,ABB78607,ABB79231,ABR97170,ABS84065,ABB99033,ABR97261,AAK17372,ABR97105,ABR97118,ABR97131,BAE11768,BAE11781,ABB78594,AAZ00016,ABF49194,AAU02393,AAK17515,ABC60584,AAB58952,ABS58002,ABS57833,ABR58360,AAP90943,AAZ02512,ABR94173,ABO39448,ABF48739,CAK19216,AAW58264,ABC60831,AAO66939,ABR94186,ABV04147,ABB98331,ABR94199,AAL54614,ABJ89339,AAZ00549,AAW58225,ABR93058,ABL60290,BAE08386,ABS57794,ABR94277,ABI32623,ABB98344,ABM68658,AAZ00536,ABS57781,AAN14545,ABM68671,ABF48765,AAP90462,AAZ02525,ABR93071,ABR94238,ABC60818,ABR94251,AAU13611,AAU13598,CAK19203,ABU46894,AAN14952,ABR94264,AAO66965,AAZ00562,AAW58290,CAK19242,ABR93110,ABR94069,AAZ02499,ABS57820,ABR58090,BAE07697,ABR94082,ABJ89443,ABF49363,AAR94858,BAE07736,ABR10780,ABB98279,BAE09049,AAN14919,AAZ00588,AAO66887,BAE13835,ABR93966,AAZ02473,AAN14655,ABR93162,ABV26396,AAU13650,ABB98123,ABL60264,ABR93940,ABX83677,BAE13861,ABJ89313,AAW58355,ABW76468,ABY60029,ABW96387,ABR96198,ABB79244,ABE99213,AAZ02824,ABL60563,AAZ02226,BAE09751,AAZ01264,ABY86869,AAU13390,AAR93519,CAJ97747,AAR93506,ABL73344,AAZ00367,AAU02406,BAE11209,ABW36106,AAZ57239,ABR95328,ABB97941,CAJ97760,AAU02419,AAR93480,AAU02432,ABY86882,AAU02445,CAJ97773,AAR93467,ABR95731,AAZ00848,BAE11196,AAR94442,AAR93454,AAO67237,ABJ89430,ABR95315,AAZ00835,AAR93571,AAP90514,CAJ97721,ABR58780,ABN13481,AAR94429,AAR93558,AAO67185,BAE09465,ABW36093,BAE14394,ABN13494,CAJ97734,BAE14381,ABR95354,ABC60571,AAR93545,ABB51433,ABB97928,BAE13406,ABL73539,AAR93532,AAZ02369,AAZ01784,ABB98305,BAE13783,ABR94030,ABR10793,BAE08932,ABR58334,AAO66913,BAE07710,ABB45594,AAP90358,AAP90722,ABI32649,ABR94056,ABJ89326,BAE08321,CAK19229,ABR93084,BAE08347,BAE08360,AAO66692,ABR94134,AAN14600,ABB45620,BAE09101,ABR94147,AAN14589,ABR94160,ABR58077,BAE13731,BAE07684,ABO39461,BAE14251,ABR10806,AAP90345,BAE08334,ABR94108,AAN14622,ABR93097,BAE09088,ABL60277,BAE13757,ABV79913,BAE09036,ABR93747,ABR58259,ABB98149,BAE07853,AAO66848,ABS58067,CAJ98085,ABB98500,AAU02939,ABO39266,ABL73708,AAR91306,AAU13468,ABR94782,AAR91319,AAL54692,ABG54138,ABO37039,AAR91215,ABC60675,AAU02978,ABR94756,ABC96549,AAR91241,CAJ98098,BAE13588,BAE11053,AAU02965,AAR91267,AAU02952,ABR94769,AAR91280,ABC60662,BAE09296,ABF49038,ABR58515,ABW73082,ABO36987,ABL60225,ABR58129,ABR93279,ABS57872,AAN14754,ABC60935,ABB98240,AAW58485,ABR93708,BAE14212,BAE14069,ABE27869,BAE14056,BAE08230,ABY60042,ABR93773,AAN14732,BAE07840,ABI32675,ABU47037,ABR93214,ABB98266,BAE08256,ABL60069,AAN14908,ABR93786,ABJ89274,BAE07814,ABL60251,ABS57859,ABV26422,AAX55500,BAE13965,ABR93760,ABR93227,AAW58472,AAZ00731,ABS57898,ABB98227,AAW58524,BAE07918,ABR93643,BAE08997,BAE08191,BAE14108,AAU13676,AAO66835,ABB45438,ABC60948,ABV26459,BAE08945,ABR93656,AAZ01914,ABO39603,AAU13689,BAE08165,ABR93604,BAE07944,BAE08178,AAN14633,AAW58277,ABB98110,AAN14930,BAE13770,AAP90449,AAU13624,BAE14004,ABR93240,BAE13978,ABL60238,ABO36974,ABB45698,ABC60688,ABO39305,CAJ98189,ABR94665,ABC96484,ABR57999,CAJ98254,ABR94614,BAE07268,BAE09192,ABC96497,ABC60701,ABS57639,BAE09205,CAJ98241,AAK17216,ABR94627,AAU03082,AAZ02915,ABX59296,ABE99408,AAZ02200,AAZ01602,AAZ00952,ABB79348,ABL61641,ABO20755,BAE12639,ABR96821,AAZ00081,AAP48370,BAE10401,ABB78568,ABR96808,AAX47884,AAO88874,ABB97694,AAP89188,ABX59398,ABL61654,AAP48357,ABR96990,AAX47871,ABS58223,ABR96847,BAE12925,ABN45825,AAL54562,ABE99421,ABB78555,AAZ00042,BAE12613,ABR96925,BAE09842,BAE14602,ABS00093,BAE14901,ABS00080,ABR96938,AAZ00055,ABE99369,ABJ99445,AAZ00107,AAX47910,ABJ89027,ABE99356,ABB78464,AAP89968,AAP89162,BAE12977,ABL60589,AAP90800,ABD61195,ABS00119,AAO53307,AAZ01251,ABE99343,AAK17437,ABO36831,AAO88770,AAL54471,AAZ02837,ABE99278,AAZ00146,AAO88783,BAE12990,ABR96600,AAX47936,ABR57740,ABJ99432,ABU40235,AAP89903,ABB78386,ABE99265,ABE99252,AAZ01745,ABR96587,AAX47923,ABB78438,ABJ89144,ABR96665,BAE11664,ABE99330,ABR96652,ABI32951,ABB78425,ABB98942,AAP48409,ABB98929,ABO40042,BAE08633,ABL61628,AAP89149,ABR96639,ABB79387,BAE09777,AAZ00120,ABE99317,ABR96626,ABL60576,AAP90553,BAE10245,AAZ00133,ABB78412,ABE99304,ABD95695,ABD61182,ABI32964,AAP48331,ABL60602,AAZ00029,BAE12912,ABR96912,BAE14940,AAP90189,ABB97681,ABB98994,ABR96899,AAZ00068,AAZ02187,AAU13078,ABB78542,ABR96886,ABB78581,ABE99447,ABO31036,AAP90566,AAP90657,ABN45812,AAP89201,ABR96964,BAE08620,BAE11716,BAE12561,ABI32977,AAK17723,ABR96795,ABO39769,BAE12899,AAZ02213,BAE11703,ABR57714,ABB99007,AAZ00094,ABR96782,ABR96769,AAP91255,AAP89175,ABR96756,BAE14576,BAE11742,ABR96834,AAX47780,AAP90878,ABR57662,ABB99111,AAP89890,AAX47793,AAP89292,ABR97339,ABN42470,AAK17736,ABN72692,BAE10232,AAP91268,ABB79218,ABR97326,AAP48149,AAP48110,ABR97430,ABS58314,AAX47767,BAE12548,BAE08581,ABR97417,BAE15954,BAE08594,AAL54523,AAY99990,AAP48123,AAZ01537,BAE11807,AAZ00003,ABL61680,AAZ00965,AAZ02928,BAE15018,ABR97378,ABO40015,ABB97616,AAP89305,ABK28826,AAL54406,ABS58301,AAZ01524,ABB99124,ABK28839,ABB99137,BAE09790,ABB78477,ABR96704,AAL54757,ABR96691,BAE14550,ABB78451,AAU13117,AAZ01238,AAU13091,ABB97707,AAP89929,ABB78503,ABE99395,ABS00106,BAE09816,ABJ89001,AAX47897,ABR96743,ABN42457,BAE12938,ABE99382,ABR96730,ABB98968,AAP48396,ABW89645,ABS58210,BAE12951,AAU13104,BAE11677,ABB78490,ABB97720,BAE09803,AAZ02031,AAZ03175,AAZ00939,ABB98955,ABB97733,BAE09764,ABR96613,ABJ99328,BAE11651,ABE99291,ABB78399,BAE10388,BAE09829,ABR96873,ABB78529,ABR57701,AAZ03292,ABE99434,ABB98981,AAX47858,ABB78516,BAE11729 MTND4 protein-coding 1346946 MT-ND4L mitochondrially encoded NADH 4L 11130070,3921850,14667819,17123117 4539 DQ304933,EF657677,EF657538,DQ112689,EF661004,AP008662,AP008871,AM260625,DQ301793,DQ112874,AP008699,EU007849,EF153817,AP008594,EU007846,EF471977,AP008465,AP008842,AM260603,AY339585,AY714020,AP008714,EF657530,AM260604,AM260605,AY495263,EF657759,DQ112721,DQ282387,DQ305030,EU284668,DQ282459,AM260606,EU007861,AY339586,AP008586,EF657451,DQ272113,AF381999,DQ112719,DQ779929,AM260590,DQ305026,AM260591,DQ282442,EF657757,EF177445,AP008619,AP008452,DQ779930,AM260592,EU367994,EF657324,AY339579,AM260586,DQ305025,AP008785,AP008660,DQ137398,AM260587,EF153833,AM260588,EF657620,AM260589,EF657323,EF429141,AY339582,EF657618,EU007859,EF657326,AM260598,EF657489,AM260599,EU095544,DQ661681,AY665667,AY495265,DQ779931,AM260593,DQ112835,DQ112789,AP008710,AY714019,DQ305027,EF657619,AP008451,DQ156210,DQ112713,AP008471,EF657298,AP008626,AY495278,DQ112774,AP008538,AP008698,EF495217,DQ112838,EF153811,DQ282439,AY495330,AP008787,AP008696,EF657308,EF657635,AY195773,EF657732,DQ137402,DQ282462,AP008809,EF153815,DQ301796,AY738999,AP008540,AP008539,EU328539,EF657633,AP008695,DQ305003,DQ137403,DQ282476,AP008469,AP008470,EF657305,DQ305010,AY339570,AP008556,DQ282423,DQ112854,AP008655,EF184639,AP008463,AY495327,AY339572,AP008880,EF660961,EF657631,EF485042,DQ862536,DQ779928,AP008315,AP008709,AY495266,DQ489514,AY739001,AM260595,AY339581,EU007858,AY738969,AM260596,AY495264,AY195771,AM260597,EF657621,EF153832,AP008811,AM260583,AY615359,AP008843,EF657322,EU007857,EF657488,AM260584,AP008708,AM260585,AY495267,EU007847,EF657304,DQ272117,EU007848,EF472971,AP008269,EF657735,AP008468,AY339483,EF184600,EF660974,AP008643,AY339420,AF346977,DQ112900,AY339484,EF657240,AP008249,AP008520,DQ902694,EF657668,AF346978,AY339419,EF657241,AF382003,DQ112780,AY495274,EF657737,EF657480,EF657532,EF657736,EF657739,EF153813,DQ305011,EF495216,AP008881,AP008697,EF657295,AY339569,EF657545,DQ112886,EF657543,AY339571,DQ282431,AP008462,EF657306,EF064319,EF153820,EF657456,DQ112715,DQ301795,DQ856316,EF657636,DQ301797,AY495277,AY495329,EF429135,EF657296,DQ305007,EF429137,EU330412,AP008624,DQ156209,EF153816,AY339568,DQ112712,EF657455,EF657733,EF429136,AY495326,EF657544,AP008571,EF153814,DQ301792,DQ112800,EF657299,EF657309,DQ304917,AP008500,DQ304956,AY339416,AY713976,DQ902695,DQ513521,EF657680,DQ112929,AY339452,EF064337,AF346963,AP008905,DQ304937,EF419891,DQ246827,DQ304931,AY339453,EF184610,EF184615,AP008800,AY713986,AP008573,AY339442,DQ513522,EF657676,AY339441,EF657236,DQ489505,AY713978,EF660981,DQ304920,EF657694,EF417833,EF184601,EF657671,EF657237,AP008519,DQ282422,EF657467,DQ112765,AF346973,EF660993,EF660962,DQ305006,DQ112813,EF184641,DQ372874,AP008627,DQ137404,EF153810,DQ282461,AP008467,AP008656,EF657634,DQ112855,EF153809,DQ246816,AP008788,EF153812,EF495214,AP008694,EU095527,AY714013,AP008834,DQ856317,AY738990,AP008314,EF491002,EF153818,AY495276,AP008712,EF660957,EU367993,AP008450,EU007860,EF657328,AM260601,AP008596,DQ282409,DQ156214,EF657758,AP008267,EF657329,AM260602,DQ112784,AY339584,EF657616,AP008449,DQ112720,AM260600,EF657617,AY339583,DQ305028,AP008872,DQ658411,DQ372878,DQ112834,AP008711,AY738965,AF465980,AP008535,EF657327,DQ305029,AM260607,EF657300,EF657482,AP008625,EF064317,AP008657,EF184599,DQ112897,EF222237,AY339485,AP008521,AF346979,EF657697,EF657539,DQ112810,DQ902696,EF660973,AY195785,DQ112787,AY713977,DQ112953,EU294323,DQ301812,DQ473537,DQ341061,DQ246817,DQ112939,DQ304979,AY339528,DQ304980,AY495285,AY339534,AY339535,EF184631,AY339536,DQ112841,AP008681,AY738966,AY339424,AY339478,AY195784,DQ112786,EF222235,AP008898,DQ304952,DQ112898,DQ304950,EF064340,EF184621,DQ112695,EF657235,DQ304951,AP008899,DQ304922,AY713993,EF222234,DQ304921,EF657693,AY339476,AP008638,EF184622,AP008518,AY339477,AP008642,AF382011,AP008503,AF346972,DQ282394,AY339481,DQ304955,DQ282440,AP008551,EF657536,AP008501,EF657669,AP008801,EF657239,DQ112848,DQ304918,DQ112922,EF064333,DQ272126,EF657471,AY738944,EF657537,AY339470,AP008516,AY339466,AY339430,EF419890,DQ112940,AP008506,AY339467,DQ304946,AF346968,EF657232,AP008312,EF657685,EF064339,DQ112687,DQ301794,EF657630,EF657481,DQ112933,AP008700,DQ112938,EF657303,AP008879,DQ246828,AY714012,EF657734,DQ305009,DQ272116,DQ305008,EF657302,DQ305005,EF064318,EF657307,EF495215,AY495325,EF657301,AP008589,DQ282408,AP008464,AP008588,EF657632,AY495328,AP008693,DQ200805,AY714011,DQ437577,AY195774,DQ862537,EF657297,DQ112904,EF657738,AY714010,DQ489512,DQ305004,AP008309,EU073970,DQ112714,DQ112907,AY950299,EU284181,DQ305031,EF657760,AP008448,AY339587,AM260608,EF177444,EU284180,AM263191,EF657330,AP008715,AM260609,EU284179,AF381998,EF657450,AM260610,EF657469,DQ282468,AY339451,DQ304936,AP008549,AP008511,DQ282396,DQ282416,EF184614,AP008512,DQ112846,AY339444,EF184611,AY339443,AY495302,AY738955,EF184612,DQ112690,EF657649,EF153791,EF657678,AY339446,AY339447,AY713987,DQ489504,EF660978,DQ304934,AY339448,AY339449,AY495301,DQ304932,AY713988,EF657679,AY339450,AY339445,DQ304935,DQ282435,EF184613,AP008640,AF346964,EF657468,AY495300,AY339454,AP008513,DQ304930,AP008295,AY713989,EF657470,AP008273,DQ304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46,AAR94116,AAR94688,AAU02808,BAE13535,AAZ02056,ABL73252,ABJ90904,AAP48524,ABA07981,AAR93921,AAL54548,ABJ89000,ABR95496,ABM92872,ABS00157,ABS00144,ABR95509,ABF49076,ABS58248,BAE14614,AAR94571,AAR93882,AAX15493,BAE09529,AAO88301,ABC70351,ABR94729,ABF49063,ABC70364,ABR96677,ABB78398,AAZ00925,ABL73434,ABR95522,ABF49115,ABR94703,AAX15532,BAE13964,ABR97260,P03901,AAP48537,ABX40088,ABS00131,BAE09542,ABE99407,ABX40075,BAE11377 MTND4L mitochondrially encoded nadh dehydrogenase 4l protein-coding 1347448 MT-ND5 mitochondrially encoded NADH dehydrogenase 5 1581060 11130070,15931342,17400793,17106447,14730434,17898419,16331560,15975594,14639589,12772452,17940288,17614984,17317336,17702497,15596151,17341490,14520659,14557590,15946665,16240359,14759509,12031626 1581060 4540 AF347015,EF064317,AF347004,DQ282443 NP_536853,AAK17893,ABJ99108,AAK17750,ABB78829 MTND5 protein-coding 1348759 MT-ND6 mitochondrially encoded NADH dehydrogenase 6 1581061 11130070,17045122,16604388,15952130,15470367,14671420,17452034,15922297,12112086,16337195 1581061 4541 EU130575,AP008463,EF657297,DQ523642,EU131366,AP008430,DQ902696,EF657790,DQ112932,EF060317,EF661012,DQ902702,AY255169,EF060318,AP008429,DQ112767,EU130942,EF660989,DQ305028,EF657470,AP008434,AY495303,AY289083,AP008433,AP008371,DQ523630,AY255162,EF657634,AP008432,EU130551,EF060348,DQ523629,AY495313,DQ902698,AY289078,AP008370,EF657268,AY339593,DQ902697,AP008374,EF060323,AP008417,EF657577,EF657786,DQ902694,EF060346,DQ272109,AP008418,DQ282425,EF657277,AP008419,AY495284,AY289096,AY255149,DQ112770,AP008409,DQ112774,EF657293,AP008410,EF060327,DQ304899,DQ112760,EF661000,EF657466,EF661011,AY495297,AY495298,AY495281,AP008423,AY289094,AY255157,DQ523632,EF060320,EF657569,AP008467,AP008424,AY495314,EF660993,EF495216,EF657578,EF657273,AY289095,EF657272,AY255155,EU140898,AP008421,AY255156,EF657459,AP008373,EF657788,EF660984,EF657653,DQ282413,AY289093,DQ282439,EU130562,EU135972,EU124886,AY255160,EF657269,EF657654,EU130681,AP008426,EU135973,AP008427,EF657262,AY289092,AP008428,AY495302,AY255161,DQ112928,AY255170,DQ272110,DQ112768,DQ902695,EF657572,EF657789,AP008366,EF153797,DQ112802,DQ272123,EF153796,EF657585,AP008655,AY495263,EF153806,EF657635,EF657319,AP008656,DQ112807,DQ523654,EF153805,EF657621,EF657759,EF657760,DQ301794,AY495264,DQ272125,EF153804,DQ305027,DQ112916,DQ112806,DQ112805,EF657647,EF657332,DQ305026,EF153822,AP008624,AY963574,EF657330,EF153803,AY963573,DQ523657,EF657757,AY495255,AP008638,EF153814,DQ301815,EF657448,AP008639,DQ305007,EU151864,DQ112812,EU151553,AY495252,EU148486,EF153819,AP008631,EF657590,EF222243,AY495253,EF648602,DQ981475,AP008632,AP008633,EF645646,EF649971,AP008634,EF657325,EF657589,EF652811,AY495275,AY063315,EF060356,EF153775,DQ304940,EF153774,AY495276,EF153773,EF153772,EF153771,EF459669,EF657307,DQ523649,EF657306,AP008354,EF060355,EF657580,DQ112796,AY495277,EF060354,EF657305,EF657676,EF222250,AP008637,DQ282411,AY495279,AP008362,AP008363,DQ112790,AP008364,EF495214,EF657579,DQ272112,AP008365,EF657771,DQ112788,AY495280,EF657622,EF222252,DQ523648,EF657304,DQ523647,DQ112795,AY063319,AY063318,EF657308,EF060357,AY063317,EF222251,AP008360,DQ112792,DQ523645,DQ305005,EF060353,DQ112791,DQ272115,EF657303,DQ489512,EF657769,EF657302,AP008355,DQ112793,EF657301,EF657456,AP008356,DQ304949,AY495278,DQ272114,EF657300,AP008357,DQ272113,AP008359,EF657770,AP008669,AP008670,EF657583,EF153791,AP008671,EF657316,EF153790,EF060364,EF464682,EF153789,DQ523652,EF060352,EF657312,EF153782,AP008565,DQ523667,AM260631,AY275536,EF657356,AP008566,DQ523644,AP008361,AY495274,AY495223,AP008580,DQ305024,AY495229,AP008581,AP008582,DQ523665,EF657350,EF093555,DQ282407,EF657349,AP008583,EF093554,EF657440,EF657739,AP008584,EF657437,AP008570,DQ305022,AP008571,AP008572,DQ112831,EF657736,AP008573,EF657737,DQ112830,AY495224,DQ301812,DQ112828,DQ282428,DQ112827,AY495225,AP008575,AY495226,AP008576,EF657738,AP008577,EF657438,EF657353,EU200237,AP008540,DQ112838,AY275532,EF657364,EU215455,EU215517,DQ112837,AY495214,DQ304975,AY495217,EF452293,AM260627,AY275534,DQ301811,AP008556,EF657732,DQ304950,AP008557,DQ304969,AY495218,EF657733,DQ112909,EU182656,AY275533,EU170619,EF657729,AP008546,AP008547,AP008548,AP008549,AP008550,EU170362,DQ305020,EU170361,EF657730,AP008551,AY495216,EF657361,DQ112836,AM260623,DQ523668,DQ112835,AP008552,DQ112834,DQ523662,AP008606,EF657734,DQ305021,DQ305008,AM260632,EF657735,AY275537,AM260633,AP008567,EF397560,AM260634,AP008568,EF657354,DQ112832,AP008569,EF657435,AM260628,AY495219,AP008558,AP008594,AP008585,AY495230,DQ489506,EF657596,EF093550,EF657348,EF093549,DQ112826,EF657740,DQ304987,DQ282427,EF657347,AY495231,EF657645,AP008586,AP008587,EF657741,AM260620,AP008541,EF657363,AP008542,AM260621,AP008543,EF657362,AM260622,EF657433,AP008544,DQ489505,AP008545,AY495211,AY275531,EF657636,AP008536,EF657599,AY495212,EF657432,EF657366,AM260614,EF657365,AM260615,AM260616,AP008537,EF657727,DQ112840,DQ304926,AP008538,AY495213,EF657357,DQ112833,AY275535,AY972053,AY495220,AM260629,EF657597,AP008559,AP008560,AP008561,DQ282393,AY495221,AP008562,DQ304945,AP008563,EF657436,AY495222,AP008564,AM260630,DQ523666,DQ305023,EF657352,AY495227,AP008578,EF657439,EF506486,EU200235,DQ112839,AP008539,DQ305019,AM260624,EF657731,DQ301810,AM260625,AP008553,EF420249,EF657358,AP008554,AM260626,AP008555,AM263188,AY255140,DQ523634,AP008380,DQ305001,EF660986,AP008453,AP008454,DQ112763,AP008461,EF657474,EF060314,EF060313,AY255165,AY289085,DQ523626,EF657264,AY495310,AP008455,EF657655,AP008466,AP008369,AP008477,EF661013,EF657471,AP008438,AP008439,AP008440,AY495305,EF657258,EF060316,DQ523628,AP008368,AY495306,AP008441,DQ304944,DQ902699,DQ112766,EF657571,EF657267,EF660988,AY495304,AY255163,EF060350,DQ523627,DQ112929,DQ902700,EF657299,AP008445,AP008446,AP008447,AP008448,EF397559,AP008449,EF660985,EU372659,EF657266,AY289089,DQ301817,AP008442,EF657472,AY289088,AP008478,DQ305031,AY495307,AP008443,DQ272111,AP008444,AP008462,AP008405,EF060344,EF660983,DQ282394,AP008473,DQ489513,AY495228,EF657773,AM263187,AF382000,AM260589,DQ282405,AY495191,AP008279,DQ372878,AP008280,DQ304937,EF657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6,AAK17634,AAX15587,BAE14422,AAX15561,ABO39836,BAE14435,AAP90438,AAX15548,ABB79350,ABB98060,ABB45570,AAP90412,BAE14266,AAP90087,AAP90607,BAE14331,BAE14344,AAY99810,ABG54231,ABB45544,AAP89840,ABN13457,BAE15176,AAP90074,BAE14357,AAX15678,ABR97056,AAK17621,ABI33044,AAO88603,AAX15665,AAO88356,ABG54218,ABB45557,ABO39979,ABR57690,ABR57625,ABI33031,BAE14318,AAP89827,AAX47795,AAK17374,ABR96537,ABR97120,ABG54166,AAO88668,AAZ00083,AAP90399,ABB45583,AAZ00200,ABI33018,ABO39992,ABB97982,ABB79493,BAE15891,AAP89788,ABB79324,ABG54140,BAE14136,BAE14149,AAP90113,ABR57612,ABB79415,BAE14162,AAP90646,AAZ00213,ABB79337,ABS87639,ABG54153,AAO88343,AAP90633,ABE99358,BAE14201,BAE14214,BAE14227,AAZ00096,ABX83679,ABR98094,BAE14240,ABB78505,AAK17270,AAP90100,BAE15189,ABR58014,ABN13470,AAP89801,ABB98333,ABG54179,ABE99462,ABJ99265,AAX47782,ABJ99278,BAE14188,AAO88655,BAE15904,ABN72603,BAE15215,ABR58027,CAH59704,BAE14552,ABY28428,AAZ03346,AAX47860,ABB79675,BAE14565,AAO88538,AAX15457,ABO39732,ABJ99460,BAE14578,ABD61132,AAP89905,AAP90568,BAE14500,BAE14513,AAX15483,ABY28415,ABB78570,AAP91075,ABJ99330,BAE14526,AAO88551,BAE14539,AAU02499,ABR97302,AAP91439,AAR95627,ABR98523,ABR93099,AAB58954,ABR98718,ABO37015,AAP47982,AAP89268,BAE15566,BAE12914,AAZ03047,BAE15579,ABR96745,AAP90295,AAU02486,AAU02473,ABR58300,AAP89255,AAU13158,ABU46987,AAU13184,ABO39294,BAE10871,AAU02356,BAE15618,AAZ00603,AAP89190,AAU13756,ABG47049,AAU13743,BAE10858,AAP48047,ABB79701,ABB90916,BAE10845,ABR93164,AAU13730,AAU13717,BAE12901,AAU02369,ABY82468,ABB79545,ABR93151,ABR97328,AAP91465,ABU47013,AAP89203,ABR58323,AAR95575,ABU46948,BAE12823,ABU47000,ABR97315,ABU47052,ABO37054,ABO39901,AAZ00577,AAP90854,BAE12810,AAP89216,ABX59387,ABG47409,BAE12758,ABR98068,ABR96758,AAP48034,BAE12771,ABU47026,AAR95601,ABR93125,ABO39320,AAZ03294,BAE15800,ABB98879,AAP89229,BAE12797,ABR93138,ABX59400,AAR95588,ABX59298,ABR96213,AAZ00590,BAE12784,BAE15605,ABB78479,AAP90867,ABO36898,ABO70917,ABR58261,AAP89307,AAP91179,ABO40057,ABR93073,AAU02603,BAE13161,ABO39424,ABR57521,AAP90282,ABW73136,AAU02590,AAZ03281,ABO39411,BAE13135,BAE13122,BAE13109,BAE13096,BAE13083,AAU13106,ABW73123,AAP89879,BAE14448,AAX15535,ABB91163,AAP47995,AAU02460,AAR95614,AAP91452,ABW73110,BAE13070,AAW58188,AAU02668,ABJ99200,BAE15514,ABR98640,AAU02655,BAE13226,AAU02642,AAP91426,AAU02629,BAE13213,ABO36885,ABB98138,ABR96862,AAP89320,ABB78752,BAE13200,BAE13187,AAU02616,BAE13174,BAE15527,BAE12940,AAU13145,ABO36976,ABB91124,BAE15553,ABI32768,AAP47969,ABR96239,ABO39372,BAE12927,AAZ00551,AAU02538,AAU02525,ABU47078,ABR93112,AAP91166,ABR96226,ABO39346,BAE12875,ABB78531,AAU13171,AAP48008,AAU02447,BAE12888,BAE15592,ABR98133,BAE12862,ABO39333,AAP89242,ABU47065,ABO37028,AAU02434,AAU02421,ABB78154,AAU02408,BAE12849,BAE12836,ABO37041,AAU02395,ABR58310,ABN72642,ABO37002,AAK17452,ABR58287,ABO36989,AAU02512,ABO36911,AAP89294,ABW73097,ABB98437,BAE13057,ABR96265,ABO36924,AAP90763,CAM98674,ABO39398,ABW73084,BAE13044,AAU13080,ABR97276,ABO39437,AAW58175,AAW58162,AAZ00525,BAE15540,BAE12966,AAP47956,ABR96252,AAU13132,ABO39385,BAE12953,ABR97289,AAU02551,AAP89281,AAR95497,ABR58375,BAE10637,AAU13535,ABO39255,ABR96174,ABB98892,AAP90789,BAE10624,ABB78219,ABO39242,ABJ99161,AAP89060,BAE10611,ABU46844,AAU13509,ABF48754,AAU13457,ABU46805,ABB98450,AAU13444,AAU13431,ABR93268,AAP90802,AAZ03034,ABR96161,BAE15722,ABR96888,AAP48164,AAU13275,AAR95471,BAE10520,ABU46792,BAE10507,AAU13418,ABO39229,AAP48177,BAE10494,AAP91127,AAU13548,ABU46857,ABR97354,AAU02135,AAP48138,ABR93229,BAE10598,AAU13496,ABR93242,BAE10585,ABU46831,AAU13483,AAU13366,ABR58401,ABB91085,AAP91517,ABB78726,AAZ00538,BAE13031,ABO36937,BAE13018,AAU13119,ABO36963,ABB99334,ABR57780,ABR93086,AAK17465,CAM98661,ABO36950,AAU02564,BAE12979,ABJ99187,BAE12992,ABR58274,AAU02577,BAE13005,ABJ99135,AAP89047,ABI32716,AAU13470,AAP48151,AAR95484,BAE10572,ABU46818,BAE10559,ABR93255,AAZ00655,ABR57755,BAE10312,BAE10299,ABB91371,AAP90828,ABF48767,BAE10286,AAU13314,BAE10273,BAE15748,AAZ00707,AAO67200,ABB98164,BAE15761,AAU13301,BAE10260,AAU13288,AAP91140,BAE10481,AAP91504,BAE10468,AAU13405,BAE10455,ABU46779,ABR58388,AAU13392,BAE10442,ABR96875,BAE10429,AAZ00681,AAP48190,AAZ00694,ABR93281,BAE15735,ABR93307,BAE10364,AAO67226,BAE10377,BAE10390,ABU46766,AAP48203,ABR93294,ABB79532,AAU13353,AAU13340,AAU13327,ABB91176,BAE10351,ABJ99148,AAP90321,AAP48216,BAE10338,ABR93320,ABS58004,AAW58409,ABW76522,ABC60781,ABS57796,ABS57757,ABR98705,ABS57615,AAP89385,AAZ00499,ABB79454,AAU12989,BAE13252,ABC60846,AAU02889,AAW58422,AAU02902,AAU02733,ABR58222,AAP47917,ABC60937,AAW58396,AAU13041,ABS57770,AAZ30810,ABO36833,BAE15488,AAZ00473,ABO40044,ABS57783,BAE13304,AAU02746,ABB98866,AAZ30771,AAU13249,AAR95523,BAE10689,ABR93216,BAE15774,ABB91150,ABY60044,AAP89086,AAU02187,AAP91153,AAU02200,ABB78466,AAU02213,BAE13265,AAZ03268,AAZ30745,ABR93047,AAU02785,ABR96979,ABS57835,ABR93034,ABR93021,AAW58253,BAE15501,AAZ30797,ABO39450,ABS57731,ABR96966,AAW58448,ABB98294,BAE13278,AAP47904,AAW58331,ABR92995,ABO36807,AAW58617,AAU02681,AAW58240,AAP90269,ABS57900,AAW58500,AAU02707,AAW58513,ABR98536,AAU13028,AAU13015,ABR92982,AAU02811,AAP89359,ABC60807,ABR58248,AAW58578,ABS57705,AAW58526,AAW58539,ABR96291,AAP89411,AAU02824,BAE13291,ABR93008,ABC60885,ABS57874,AAP90880,AAW58552,AAW58279,ABS57848,AAW58266,AAW58604,AAU02798,AAW58461,AAU02863,AAU02850,AAW58474,BAE15475,ABR58209,AAU02837,ABS57913,ABC60820,AAU02694,AAW58305,ABR96304,AAK17413,ABR57806,ABO39463,BAE13330,ABR98120,ABS57718,ABB98424,AAU13067,AAW58383,AAZ30758,AAW58370,AAW58201,AAP90334,BAE13239,ABB79558,ABR58235,AAW58656,AAT66187,ABB99347,ABC60950,ABB78518,ABR96317,AAU02759,ABR58196,ABO39476,AAU02876,AAW58214,AAW58357,ABS57628,AAP89437,BAE13356,BAE13369,BAE10780,AAZ00629,ABB78583,BAE15644,BAE10793,ABR58336,BAE15631,AAU13704,BAE10806,AAR95549,ABB98645,AAU13639,ABU46909,AAP91491,ABR96187,AAU13262,AAR95510,AAP48125,AAU13626,BAE15709,AAW58318,ABC60898,AAP89346,ABS57641,AAZ00447,AAU13002,ABC60794,AAP89398,AAP89424,ABR97263,ABO39888,AAW58643,AAW58435,AAU02772,ABS57809,ABR93060,ABR57742,ABR57793,ABW76470,ABW76457,AAU13054,AAP89333,ABO36820,ABB78492,ABC60833,ABS57822,AAZ03060,AAW58630,AAK17478,ABB79571,AAW58487,ABS57692,AAW58591,AAP89372,AAW58292,ABS57978,AAZ03021,BAE10403,AAO67238,AAP90815,ABU46740,AAU13379,BAE10416,ABR98731,ABU46935,AAU13691,ABR93190,AAU02291,AAU02278,AAP48073,BAE10767,AAP89125,AAU13223,AAU02265,AAP90308,AAR95536,AAP91478,AAP48086,BAE15657,ABU46922,AAU02252,ABI32742,AAP48099,BAE10754,ABO39914,AAP89112,BAE10741,ABJ99174,BAE10728,AAP90841,AAP89164,ABO39281,AAR95562,ABE99384,AAU02343,AAP90776,AAZ00616,BAE10832,ABO70956,ABR93177,ABI32755,AAP48060,ABY60057,AAZ00642,ABJ99109,BAE10676,AAU13613,ABB79519,ABU46896,ABR58362,AAU13600,AAU13587,AAU02174,AAP89073,BAE10663,ABF48741,AAU13574,AAU13561,BAE10650,ABU46870,AAU02161,AAU02148,ABN88607,ABR57767,ABR98510,AAU02239,BAE10715,AAP48112,ABY60005,ABY60018,ABO39268,ABR58349,ABR93203,AAU13236,AAU13678,ABY60031,AAU02226,BAE15670,BAE10702,AAP89099,AAU13652,BAE15696,ABI32729,ABB97566,ABR96200,BAE10819,AAP89151,AAU02330,AAP89138,AAU13210,ABR98185,AAU02304,AAU02317,AAU13197 MTND6 protein-coding 1350343 MT-RNR1 mitochondrially encoded 12S RNA 1347305 MT-RNR2 mitochondrially encoded 16S RNA 1346234 MT-TA mitochondrially encoded tRNA alanine 1350292 MT-TC mitochondrially encoded tRNA cysteine 1353650 MT-TD mitochondrially encoded tRNA aspartic acid 1343599 MT-TE mitochondrially encoded tRNA glutamic acid 1346568 MT-TF mitochondrially encoded tRNA phenylalanine 1346891 MT-TG mitochondrially encoded tRNA glycine 1350503 MT-TH mitochondrially encoded tRNA histidine 1344906 MT-TI mitochondrially encoded tRNA isoleucine 1349819 MT-TK mitochondrially encoded tRNA lysine 2112427,2124116 1353707 MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) 1344944 MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) 1350636 MT-TM mitochondrially encoded tRNA methionine 1343329 MT-TN mitochondrially encoded tRNA asparagine 1347007 MT-TP mitochondrially encoded tRNA proline 1351977 MT-TQ mitochondrially encoded tRNA glutamine 1343129 MT-TR mitochondrially encoded tRNA arginine 1347226 MT-TS1 mitochondrially encoded tRNA serine 1 (UCN) 1344420 MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) 1351359 MT-TT mitochondrially encoded tRNA threonine 1350675 MT-TV mitochondrially encoded tRNA valine 1354011 MT-TW mitochondrially encoded tRNA tryptophan 1348937 MT-TY mitochondrially encoded tRNA tyrosine 737231 MT1A metallothionein 1A 1580863 18349110,18249147,18208603,17388808,17373731,17111383,17008879,16955215,16107899,16087360,15812196,15489334,14528913,12970870,12539042,12477932,12361735,11939525,11284736,2303255,2304897,11168427,10884303,10774930,10754528,10574972,10099782,9614853,9566988,7543551,7140998,6327055,6089206,4062903,3856101 4489 NM_005946,AC026461,K01383,AF348995,AY028617,BC029475 NP_005937,AAA59586,AAO32955,AAK26162,AAH29475,P04731,Q86YX5,Q8TE66,ABM83485,ABM86699 Hs.655199 GDB:125559 MGC32848|MT1|MT1S|MTC metallothionein protein-coding 1352993 MT1B metallothionein 1B 1580863 17244347,15747776,15489334,12539042,12477932,6089206,3785191,2286373 4490 NM_005947,AC026461,AF350250,CH471092,M13484,M13485,AF349000,AY168638,BC069421 NP_005938,AAO49186,EAW82880,AAA36331,AAO32960,AAN86984,AAH69421,P07438,Q86YX0 Hs.656629 GDB:125564 MT1|MT1Q|MTP metallothionein 1b (functional) protein-coding 1345275 MT1CP metallothionein 1C (pseudogene) 6327055,6089206,3785191,2286373 441771 NG_005880,AC026461 GDB:125560 pseudo 1342688 MT1DP metallothionein 1D (pseudogene) 6327055,6089206,3785191,2286373,12539042 326343 BC130317,NR_003658,AC026461,CH471092,AF348999,BC130315 AAI30316,AAI30318,Q86YX1,EAW82877,EAW82878,AAO32959 Hs.679600 GDB:125565 MTM pseudo 1351881 MT1E metallothionein 1E 1580863 18349110,17244347,15747776,15489334,14555400,12556398,12539042,12477932,11693492,11133866,11053642,10774930,8119276,7932184,6095291,6089206,3856101,2581970,2286373 4493 NM_175617,AC026461,CH471092,M10350,M10942,AF495759,BC009699,BC062734,BC131609,S68949 NP_783316,EAW82872,EAW82873,EAW82874,AAA59587,AAM15968,AAH09699,AAH62734,AAI31610,AAB30082,P04732,Q8TD51 Hs.534330 GDB:125569 MT1|MTD metallothionein 1e (functional) protein-coding 1349010 MT1F metallothionein 1F 1580863 15862967,15489334,15369632,12539042,12477932,11693492,11291768,11168427,10774930,9831543,7762008,6095291,8619255,6089206,3403543,3023827,2581970,2444457,2286373 4494 NM_005949,AC026461,CH471092,CS185532,M10351,M10943,M13003,BC029453 NP_005940,EAW82881,CAJ42713,AAA59588,AAA36213,AAH29453,P04733,ABM84012,ABM87356,ABM87377 Hs.513626 GDB:125571 MGC32732|MT1 metallothionein 1f (functional) protein-coding 1345638 MT1G metallothionein 1G 1580863 12970870,15862967,15747776,15735762,15489334,12640681,12539042,12477932,8119276,6089206,3403543,3023827,2444457,2286373,12646258 4495 NM_005950,AC026461,CH471092,J03910,K03473,BC005311,BC020757,BC035287,S68954 NP_005941,EAW82882,EAW82883,AAA59873,AAH20757,AAB30083,P13640,ABM92157,ABW03278 Hs.433391 GDB:125572 MGC12386|MT1|MT1K protein-coding 1343880 MT1H metallothionein 1H 1580863 14668352,15747776,15489334,12970870,12539042,12477932,12081484,11093034,11053642,10774930,8619255,8119276,8049263,2286373,1425708,12646258 4496 NM_005951,AC026461,CH471092,X64834,BC008408,BC059780,BT007171,S68948,X64177 NP_005942,EAW82884,CAA46046,AAH08408,AAH59780,AAP35835,AAB30081,CAA45516,P80294,ABM84013,ABM87358 Hs.438462 GDB:125573 MGC70702|MT1 protein-coding 1352540 MT1IP metallothionein 1I (pseudogene) 8049263,6089206,2286373 644314 NR_003669,AC026461,AF348997 AAO32957,Q86YX3 Hs.434199 GDB:125574 MT1|MT1I|MTE pseudo 1350386 MT1JP metallothionein 1J (pseudogene) 1580863 16249430,12477932,8049263,2581970,2286373 4498 NG_005506,AC026461,AF350249,M11399,M11400,M11401,AF348994,BC103839 AAO32954,Q86YX6 Hs.513626 GDB:125575 MT1|MT1J|MT1NP|MTB metallothionein 1j pseudo 1345185 MT1L metallothionein 1L (gene/pseudogene) 1580863 16395595,15747776,12477932,9074634,8766831,8049263,2286373 4500 NR_001447,AC026461,AJ011772,BC070351,BG747999,X97261 CAA65916,Q86YX2 Hs.647358 GDB:125577 MT1|MT1R|MTF metallothionein 1l pseudo 1605723 MT1M metallothionein 1M 10575295,17244347,15489334,12539042,12477932,10774930,8049263,2286373 4499 NM_176870,AC026461,AF348671,CH471092,AF136177,AF479613,BC028280,BC103841,BM918307 NP_789846,AAL83902,EAW82875,EAW82876,AAP97267,AAL85413,AAH28280,AAI03842,Q8N339,Q8TDC4,ABM85681 Hs.647370,Hs.656629 MGC118949|MGC40498|MT1|MT1K protein-coding 1346190 MT1NP metallothionein 1N, pseudogene 81837 GDB:11508698 1342869 MT1P1 metallothionein 1 pseudogene 1 493987 NG_005527,AL161729 bA435O5.3 pseudo 1604411 MT1P2 metallothionein 1 pseudogene 2 12477932 645745 NG_007037,AL359259,AF333388,BC133030,BC133032 AAK18278 Hs.632513 pseudo 1353097 MT1P3 metallothionein 1 pseudogene 3 15489334,12477932,11780052 140851 NG_005652,AL121753,BC103840,BC133653 AAI03841,AAI33654,Q9BQN2 Hs.654715 GDB:11505098 C20orf127|MGC118948|dJ614O4.6 chromosome 20 open reading frame 127 pseudo 1351340 MT1Q metallothionein 1Q 81836 GDB:11508699 1352167 MT1S metallothionein 1S 81835 AY028617 GDB:11508707 1349525 MT1X metallothionein 1X 1580863 8049263,2286373,9074634,16381901,15489336,15489334,14718574,12539042,12477932,11693492,11168427,11076863,10774930,10754528,10575295,9831543,8619255,8119276 4501 NM_005952,AC026461,CH471092,CS185582,X65607,BC018190,BC029916,BC032131,BC032338,BC053882,S68956,X76717 NP_005943,EAW82885,EAW82886,CAJ42763,CAA46557,AAH18190,AAH29916,AAH32131,AAH32338,AAB30084,CAA54136,P80297,Q6PIN3,Q8N2W5,Q8WVB5,CAL37952,ABM92155,ABM84626 Hs.374950 GDB:125615 MT-1l|MT1 protein-coding 1352146 MT2A metallothionein 2A 1580863 12970870,14550308,15541360,6719135,18349110,18208603,17914565,17622311,17244347,17224279,16927099,16916647,16546755,16518702,16402917,16243847,16166738,16087360,15862967,15747776,15489334,15041247,14530512,12714254,12646258,12539042,12477932,12192109,12153718,10766190,10754528,10716985,10567918,8766831,7133118,6896577,6323998,3821726,2780570,2388267,1633872,1593628,1339282,913597 4502 NM_005953,AC026461,CH471092,DQ370420,J00271,M15244,X00504,BC007034,BC070289,BT007315,CR621046,CR625648,M26637,S52379,V00594,X97260 NP_005944,EAW82869,EAW82870,ABC79300,AAA59583,CAA25196,AAH07034,AAH70289,AAP35979,AAA59584,AAB24908,CAA23841,CAA65915,P02795 Hs.647371 GDB:120199 MT2 protein-coding 1349146 MT2P1 metallothionein 2 pseudogene 1 (processed) 7133118 4503 NG_001158,AC074378,J00272 GDB:120200 pseudo 730879 MT3 metallothionein 3 1580863 12383939,8751715,1873033,12763630,18295594,18208603,18206644,18182399,17712581,16945328,16546755,16351731,16087360,16036436,15489334,15190073,12539042,12538345,12477932,12187490,12111700,12072966,12067712,12058024,11994011,11849386,11226237,10517878,9655243,8039715,7677777,2071148,1631128,1464312 4504 NM_005954,AC026461,CH471092,DQ297144,M93311,S72043,BC013081,BC035624,BC047694,BI752092,BI820409,BT007030,CB155600,D13365,X89604 NP_005945,EAW82866,EAW82867,EAW82868,ABB84467,AAA36214,AAB31396,AAH13081,AAP35677,CAA61763,P25713,ABM82678,ABM85859 Hs.73133 GDB:134716 GIF|GIFB|GRIF metallothionein 3 (growth inhibitory factor (neurotrophic)) protein-coding 1343695 MT4 metallothionein 4 1580863 15489334,12539042,12477932,8003488 84560 NM_032935,AC026461,CH471092,U07807,BC113442,BC113444 NP_116324,EAW82865,AAA20232,AAI13443,AAI13445,P47944 Hs.567624 GDB:11506300 MTIV metallothionein iv protein-coding 1344281 MT7SDNA mitochondrially encoded 7S DNA 4505 GDB:118896 731516 MTA1 metastasis associated 1 This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. 729186,728998,1580863 8083195,18362831,18306220,18196870,17922032,17868030,17666527,17081983,16969516,16964243,16855396,16831056,16807247,16617102,16502042,16244788,16172399,16169070,15489334,15456747,15302935,15254226,15095300,15077195,14871807,14760703,14735193,12920132,12684630,12650603,12639951,12527756,12493763,12477932,12431981,12167865,11948399,11804687,11483358,11474200,11146623,10967548,10840944,10444591,9885572,7607577,16189514,10545197 729186,728998 9112 NM_004689,AL928654,CH471061,AB209348,AF508978,AW732089,BC006177,BC009443,BC142941,BE139515,BX248755,BX248776,DN997955,U35113 NP_004680,EAW81918,EAW81919,EAW81920,EAW81921,EAW81922,EAW81923,BAD92585,AAN01613,AAH06177,AAH09443,AAI42942,CAD66562,CAD66583,AAA78935,Q13330,Q59FW1,Q86SW2,Q86TR6,Q9BRL8 Hs.525629 GDB:9955068 protein-coding 1315535 MTA2 metastasis associated 1 family, member 2 This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacteylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. 1580863 10444591,17081983,16645043,15489334,15456747,15016378,14645126,12920132,12705869,12493763,12477932,12374985,12124384,11331609,11297506,11102443,11099047,10471500,9929979,9885572,9804427,9790534,11756549,12354758,11062478 9219 NM_004739,AB012922,AP001458,CH471076,AB016591,AF295807,BC023656,BC053650,CR601321,CR749481 NP_004730,BAA36562,EAW74031,EAW74032,BAA36707,AAG02241,AAH23656,AAH53650,CAH18309,O94776,Q68DB1 Hs.173043 DKFZp686F2281|MTA1L1|PID protein-coding 1315624 MTA3 metastasis associated 1 family, member 3 1580863 17050676,16502042,15489334,15454082,15358836,15169784,14702039,14613024,12920132,12705869,12477932,11483358,11181995,10574462,10471500 57504 CR598284,CR611589,CR612595,CR619018,CR621276,NM_020744,AC025750,AC074375,AC093386,AC098824,CH471053,AB033092,AF086450,AK027304,AK122690,AK127245,AL161954,BC004227,BC053631,CR597627 Q53QZ9,Q53RX8,Q53SC0,Q9BTC8,NP_065795,AAY24040,AAY24110,AAY14699,EAX00313,EAX00314,EAX00315,EAX00316,EAX00317,BAA86580,BAB55028,CAB82305,AAH04227,AAH53631 Hs.435413 KIAA1266 protein-coding 1320830 MTAP methylthioadenosine phosphorylase This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. 1580863 12875987,12477932,12438261,11985785,11566337,11126361,10404592,8650244,7604019,6425836,16189514,12826659,8687427,18237276,16778103,16631464,16618910,16081515,15832197,15662124,15534104,15511635,15492751,15489334,15302935,14506228 4507 AL359922,CH471071,AB062485,AF109294,AF216650,AK024734,AY712791,BC012316,BC018625,BC026106,BG576334,BM994282,BQ220538,BQ232183,CA440131,CR541670,NM_002451,CR541710,L40432,U22233 NP_002442,CAI16481,EAW58605,EAW58606,BAB93510,AAD19641,AAF82688,AAU04442,AAH12316,AAH18625,AAH26106,CAG46471,CAG46511,AAG38871,AAA81646,Q05DJ2,Q13126,Q5T3P3,Q5VYJ1,Q6FHP1,Q6FHT1,Q8NI75,Q8WV80,Q9NRK7 Hs.193268 GDB:119433 MSAP|c86fus protein-coding 1345545 MTATT mitochondrially encoded membrane attachment site 4510 GDB:118899 1354048 MTBP Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 15632057,14702039,12477932,11060448,10906133 27085 NM_022045,AC105142,AC107877,CH471060,AK022122,AL832671,BC013136 NP_071328,EAW92006,EAW92007,BAB13965,AAH13136,Q96DY7,ABW03745,ABW03419 Hs.657656 GDB:10029269 MDM2BP protein-coding 1319508 MTCH1 mitochondrial carrier homolog 1 (C. elegans) 1580863 10551805,12377771,17670888,15489334,14702039,14574404,12975309,12477932,10810093,9373149,8125298 23787 NM_014341,CR615412,CR616101,CR616162,CR615322,CR617013,CR621124,CR623829,CR626814,AL122034,CH471081,AF151822,AF176006,AF189289,AF192559,AK022783,AK130842,AK225628,AY358519,AY947344,BC000702,BC006507,BC009962,BC040659,BC110914,BC125055,BC125056,BC153873,CR591303,CR591948,CR592619,CR592724,CR592807,CR594379,CR601627,CR602035,CR603921,CR605558,CR606276,CR606325,CR611138,CR614276,CR614769 Q8IW90,Q9NZJ7,Q9Y374,NP_055156,CAI23303,CAI23304,CAI23305,CAI23306,EAX03925,EAX03926,EAX03927,EAX03928,EAX03929,EAX03930,EAX03931,AAD34059,AAD52644,AAF07936,AAF12793,AAQ88883,AAY57875,AAH00702,AAH06507,AAH09962,AAH40659,AAI10915,AAI25057,AAI53874 Hs.485262 CGI-64|MGC131998|PIG60|PSAP protein-coding 1317645 MTCH2 mitochondrial carrier homolog 2 (C. elegans) 1580863 15899861,15489334,12477932,12407445,11042152,9373149,8125298 23788 NM_014342,AC104942,CH471064,CQ871294,AF085361,AF176008,AK223097,AY380792,BC000875,CR592236,CR606794,CR618611,CR618818,CR619866,CR625977 ABM82736,ABM85919,NP_055157,EAW67892,CAH56828,AAD40196,AAD52646,BAD96817,AAQ88168,AAH00875,Q53G34,Q9Y6C9 Hs.269944 HSPC032 protein-coding 1348021 MTCO1P1 cytochrome c oxidase pseudogene 1 56167 GDB:10796500 1346787 MTCO1P2 MTCO1 pseudogene 2 326603 NG_002593,AL132988 cytochrome c oxidase pseudogene 2 pseudo 1347360 MTCO2L MTCO2 like 140909 NG_001007,AL121918 GDB:11506302 dJ342K12.1 cytochrome c oxidase ii-like pseudo 1352145 MTCO3P1 cytochrome c oxidase III pseudogene 1 404026 1343111 MTCP1 mature T-cell proliferation 1 This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. The gene has two ORFs that encode two different proteins. The upstream ORF encodes a 13kDa protein that is a member of the TCL1 family; this protein may be involved in leukemogenesis. The downstream ORF encodes an 8kDa protein that localizes to mitochondria. Alternative splicing results in multiple transcript variants. 1580863 8361760,17136114,16381901,16189514,15489336,15489334,12477932,11707444,11076863,10959629,9691281,9520380,9518463,9405159,9315101,8634440,8247530,8152252,7970717,7784073,1303175 4515 NM_001018024,NM_001018025,NM_014221,NG_005114,BX470111,CH471172,Z24458,Z24459,BC002600,BM990206,BT006749,CR600926,CR604905,CR613140,X64644 Q5HYP9,CAL38333,NP_001018024,NP_001018025,NP_055036,CAI41656,CAI41657,EAW72639,EAW72640,EAW72641,EAW72642,CAA80828,CAA80829,AAH02600,AAP35395,P56277,P56278,Q5HYP2 Hs.6917 GDB:384689 C6.1B protein-coding 1354317 MTCSB1 mitochondrially encoded conserved sequence block I 4516 GDB:118903 1354145 MTCSB2 mitochondrially encoded conserved sequence block II 4517 GDB:118904 1344046 MTCSB3 mitochondrially encoded conserved sequence block III 4518 GDB:118905 735692 MTDH metadherin 18316612,17704808,17563745,17397930,17088530,17081983,15927426,15489334,15383321,15093543,14980505,14702039,12477932,11823860 92140 NM_178812,AP002982,AP003357,CH471060,AF411226,AF501310,AK000745,AY082966,AY974040,BC001815,BC009324,BC014977,BC022825,BC023994,BC045642,AP003114,CR590400,CR606229 NP_848927,Q05DH2,Q52QU9,Q86UE4,EAW91760,EAW91761,EAW91762,AAO65771,AAP30791,AAL92861,AAX84832,AAH09324,AAH14977,AAH45642 Hs.377155 3D3|AEG-1|AEG1|LYRIC protein-coding 736231 MTERF mitochondrial transcription termination factor This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. 9118945,17884915,15899902,15489334,15087485,14744862,12853948,12690205,12477932,9847074,9373149,8125298,7681833 7978 NM_006980,AC003086,CH236949,CH471091,AK222730,AL832861,BC000965,BC108648,BC130389,BC130391,CR596059,CR608572,Y09615 NP_008911,AAB83941,EAL24159,EAW76869,BAD96450,AAH00965,AAI08649,AAI30390,AAI30392,CAA70830,Q53H51,Q99551,ABM85067 Hs.532216 MGC131634 transcription termination factor, mitochondrial protein-coding 1603051 MTERFD1 MTERF domain containing 1 15489334,14702039,12477932,10810093 51001 NM_015942,AP003465,CH471060,AF132946,AK001801,BC012995,CR590927,CR595557,CR609730,CR610912 NP_057026,EAW91750,EAW91751,EAW91752,AAD27721,AAH12995,Q96E29 Hs.308613 CGI-12|FLJ10939 protein-coding 1602073 MTERFD2 MTERF domain containing 2 16713569,15489334,14702039,12477932 130916 NM_182501,AC005237,CH471063,AF161359,AK025374,AK055474,AK093695,AK124444,AK126322,AK131298,AK291665,BC044641,BC053533,BX648184,CD388157,CR590225,CR607675,CR613199,CR615652,CR617083,CR622447 NP_872307,EAW71234,EAW71235,AAF28919,BAF84354,AAH53533,Q7Z6M4 Hs.159556 FLJ16261|MGC61716 protein-coding 1604591 MTERFD3 MTERF domain containing 3 16226716,15489334,14702039,12477932,9373149,8125298 80298 NM_001033050,NM_025198,AC007541,CH471054,AK024124,AK222558,AL832827,AY008301,BC008486,BC025984,BC036066,BC050361,BC068468,CR611895 NP_001028222,NP_079474,EAW97792,EAW97793,EAW97794,BAB14834,BAD96278,CAI46173,AAG22860,AAH25984,AAH36066,Q49AM1,ABZ92132 Hs.5009 FLJ14062|mTERFL protein-coding 1319031 MTF1 metal-regulatory transcription factor 1 This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). 1580863 3208749,8065932,17503480,16710414,16189514,15489334,15318808,14702039,14610091,12805380,12716893,12477932,11923282,11306562,11004505,10504263,9373149,8125298,15735762 4520 NM_005955,AJ251881,AL929472,CH471059,D31907,AI915521,AK125603,AK225923,AL702908,BC014454,X78710 NP_005946,CAB71327,CAH70087,EAX07312,BAA22262,AAH14454,CAA55363,O14945,Q14872,Q9NY38 Hs.471991 GDB:386446 MGC23036|MTF-1|ZRF protein-coding 1605093 MTF2 metal response element binding transcription factor 2 16344560,15563832,15231748,12477932,7772254,16189514 22823 NM_007358,AC093577,AL117354,CH471097,AF072814,AF073293,AF086908,AJ010014,AK290318,BC001897,BC010013,BQ025793,CA417978,CR594521,CR599562,DB173315 Q5TE73,Q5TE74,Q7Z534,Q96G26,Q9Y483,NP_031384,EAW73083,EAW73084,EAW73085,AAC27618,AAC27080,AAP97138,CAA08970,BAF83007,AAH10013 Hs.591449,Hs.595670 M96|PCL2|RP5-976O13.1|dJ976O13.2 protein-coding 1604246 MTFMT mitochondrial methionyl-tRNA formyltransferase 15489334,14702039,12477932,9614118 123263 NM_139242,AC013553,AC103691,CH471082,AK055688,BC016630,BC033687,BQ774051,CR595154,DC295382 NP_640335,EAW77706,EAW77707,BAB70984,AAH16630,AAH33687,Q96DP5 Hs.531615 FMT1 protein-coding 1605712 MTFR1 mitochondrial fission regulator 1 10942595,15489334,15389597,12477932,12359332,7584028,7584026 9650 NM_014637,AC055822,CH471068,BC036116,BC043498,BX537854,BX647507,CR456910,CR619027,CR621667,D13634 NP_055452,EAW86881,EAW86882,AAH36116,AAH43498,CAD97862,CAG33191,BAA02798,Q15390,Q7Z669 Hs.654531 CHPPR|KIAA0009 protein-coding 1603933 MTG1 mitochondrial GTPase 1 homolog (S. cerevisiae) 16344560,15489334,15342797,15164054,14702039,14527721,12808030,12477932,8836150,12581858,11524421,10893188,9694811,1629950 92170 AL161645,AL360181,AL451057,CH471211,CQ782949,AK074976,AK095872,AK125012,AK292515,BC000920,BC004409,BC026039,BC026725,BC035721,CR592090,CR598834,CR606966,CR616914,NM_138384,DB136242 NP_612393,CAH70046,CAH70289,EAW61348,EAW61349,CAF86177,BAC11327,BAF85204,AAH00920,AAH04409,AAH26039,AAH35721,Q9BT17 Hs.501578 GTP|GTPBP7|RP11-108K14.2 protein-coding 732147 MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. 1600189,1600190,1580863,1299513,1300048 3053686,17353931,3528153,18427977,18277167,18261183,18221821,17894836,17691219,17548676,17533396,17530705,17449906,17438114,17436311,17417062,17114913,17035141,16712703,16552426,16328059,16315005,16236726,16123074,15953655,15937947,15861780,15797993,15719048,15633187,15503105,15489334,15122597,14647408,14632302,12665801,12477932,12384833,12015164,10828945,9611072,9519408,3877056,3074630,2786332,2587219,2183217 1600189,1600190,1299513 4522 NM_005956,AL122035,CH471061,BC001014,BC009806,BC050420,CR601328,CR613709,CR614604,CR619741,J04031 NP_005947,EAW80857,EAW80858,AAH01014,AAH09806,AAH50420,AAA59574,P11586,ABM84560,ABM87852 Hs.652308 GDB:120704 MTHFC|MTHFD c1-tetrahydrofolate synthase protein-coding 1342984 MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like One-carbon substituted forms of tetrahydrofolate (THF) are involved in the de novo synthesis of purines and thymidylate and support cellular methylation reactions through the regeneration of methionine from homocysteine. MTHFD1L is an enzyme involved in THF synthesis in mitochondria (Christensen et al., 2005 [PubMed 15611115]).[supplied by OMIM] 17353931,16171773,15611115,15068241,15013446,12937168,12477932 25902 NM_015440,AL035086,AL049694,AL133260,CH471051,AA478842,AB127387,AK024798,AK127089,AL117452,AV704883,AY374130,AY374131,BC008629,BC017477,BC110319,BE735249,BQ062382 NP_056255,CAI42788,CAI42789,CAI42791,CAI42792,CAI42793,CAI42794,CAI42795,CAI95772,CAI95773,CAI95774,CAI95775,CAI95678,CAI95679,CAI95680,EAW47760,EAW47761,EAW47762,EAW47763,BAD93193,BAB15009,CAB55934,AAQ82696,AAQ82697,AAH08629,AAH17477,AAI10320,Q2TBF3,Q4VXV2,Q5JYA1,Q5JYA3,Q5JYA4,Q5JYA5,Q5JYA8,Q6UB35,Q96HG8,Q9H789 Hs.591343 DKFZp586G1517|FLJ21145|FTHFSDC1|MTC1THFS|RP1-292B18.2|dJ292B18.2 protein-coding 1345036 MTHFD1P1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1 1916813 4523 NG_001159,S57009 GDB:120202 MTHFDL1|MTHFDP1 pseudo 1322701 MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in multiple transcripts encoding different isoforms. This gene has a pseudogene on chromosome 7. 1540378,1580863 8218174,16344560,15815621,15489334,12477932,9454603,9373149,8939898,8125298,2587219,17353931 1540378 10797 NM_001040409,NM_006636,AC073263,CH471053,AK130664,AK222826,AK223041,AU125762,BC001548,BC015062,BC017054,BX475613,CB124593,CR602884,CR620122,X16396 NP_001035499,NP_006627,AAX93061,EAW99670,EAW99671,EAW99672,EAW99673,BAD96546,BAD96761,AAH01548,AAH15062,AAH17054,CAA34431,P13995,Q7Z650,ABM85605 Hs.469030 GDB:9958294 NMDMC methylene tetrahydrofolate dehydrogenase (nad+ dependent), methenyltetrahydrofolate cyclohydrolase protein-coding 1345478 MTHFD2L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 14702039,12477932 441024 NM_001004346,AC093677,AC097470,CH471057,AK021544,AK122799,BC032771,BC037529,BC041943,BC065771,BG566009,BQ015209 Q8IY64,Q9H903,NP_001004346,AAY40953,EAX05702,EAX05703,EAX05704,EAX05705,EAX05706,EAX05707,AAH32771,AAH37529,AAH65771,Q4W5I6 Hs.479954 FLJ13105|MGC45532|MGC72244 protein-coding 733483 MTHFR 5,10-methylenetetrahydrofolate reductase (NADPH) Methylenetetrahydrofolate reductase (EC 1.5.1.20) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.[supplied by OMIM] 1580579,1580580,1580581,1580590,1580585,1580863,1601421,1535021 7726158,7647779,15231747,18483455,18483342,18480590,18480081,18469551,18459951,18277167,18275512,18274813,18273817,18267032,18266839,18258338,18257130,18255072,18249399,18249021,18245544,18235909,18234410,18225686,18223316,18222012,18221821,18220649,18220034,18214047,18205772,18204969,18204887,18203168,18202788,18200034,18199722,18199718,18195462,18194124,18192902,18192106,18191809,18189241,18186041,18458567,18457169,18454680,18452350,18452180,18447992,18447718,18435414,18427977,18426813,18421714,18409008,18406541,18405246,18403793,18398434,18387982,18387654,18386810,18385801,18385010,18384842,18381794,18378616,18378576,18373406,18365141,18355300,18352978,18351371,18350352,18350248,18340404,18339682,18336674,18333414,18328637,18328173,18322814,18318759,18317335,18299612,18297176,18293456,18285546,18280442,18180959,18180190,18177869,18176672,18174236,18167510,18165972,18165967,18162478,18160726,18160602,18160599,18160589,18156406,18154909,18098291,18098118,18095031,18089344,18080853,18076365,18075008,18074687,18074111,18070829,18070159,18068006,18065414,18062861,18061941,18057532,18053808,18053312,18043712,18040753,18034637,18034620,18023275,18022874,18019157,18004208,17999084,17993766,17982733,17979520,17976958,17974190,17972183,17971770,17970089,17967524,17966954,18060320,17966140,17918782,17917766,17914182,17911197,17904970,17904392,17904003,17900242,17899317,17891601,17891500,17855693,17853476,17846906,17822659,17805475,17785925,17726486,17726226,17725378,17719116,17719079,17716874,17714520,17712717,17712558,17711493,17708272,17707074,17704619,17704422,17920311,17965559,17965089,17965025,17963764,17962595,17962051,17957761,17951123,17934972,17934692,17932993,17925002,17922421,17704111,17702010,17691219,17684410,17670851,17666612,17659576,17655928,17641264,17638709,17637926,17636160,17633462,17627684,17627388,17627246,17625574,17622358,17621650,17621533,17621484,17618615,17618486,17618244,17615573,17614221,17604826,17602711,17596206,17595805,17591934,17590289,17589670,17588738,17584018,17581676,17581305,17574963,17574929,17573062,17572411,17561949,17558844,17553479,17551576,17549067,17548696,17548676,17546637,17543893,17537363,17537304,17533396,17522601,17521309,17512587,17510921,17505678,17503473,17503006,17502830,17497026,17491230,17488658,17479212,17476281,17469025,17563923,17461517,17457696,17456626,17456624,17455988,17454638,17454207,17453338,17452895,17035141,17030196,17028897,17024648,17024475,17016617,17010581,17009228,17009149,17008978,17005529,17005242,17003923,17000887,17000685,17000243,16999862,16997330,16987799,16986504,16985020,16969279,16963292,16958597,16956909,16951158,16950800,16944145,16941173,16938111,16936384,16936070,16930349,16929515,16927418,16923565,16920564,16917939,16906459,16906320,16897583,16894468,16894458,16888682,16886608,16881367,16877991,16875718,16870553,16867914,16865747,16862278,16862068,16861746,16846676,16845273,16845248,16844951,16839569,16828193,16821630,16820193,16819711,16808252,16799656,16796406,16792904,16791607,16787708,16785472,16783607,16778415,16777985,16774768,16765424,16761446,16758511,16758123,16754204,16753154,16737574,16712703,16711541,16709328,16706930,16704755,16700986,16691128,16686913,16683219,16682831,16681562,16679643,16679164,16651869,16641680,16636653,16635210,16634455,16630166,16629766,16627623,16624841,16622263,16621645,16614955,16614466,16613994,16607075,16604492,16602021,16601831,16599836,16596679,16595080,16580699,16575899,16574759,16573155,16572609,16572443,16567932,16564429,16557227,16556414,17164363,17160942,17159337,17156840,17156138,17152488,17151928,17149733,17143557,17141597,17136107,17131337,17121316,17119116,17119067,17119065,17117960,17116097,17115239,17114913,17113927,17113603,17113562,17111197,17111187,17107352,17105984,17100732,17097210,17094971,17091407,17089070,17087956,17085942,17074966,17074544,17074326,17071478,17069650,17065682,17065574,17063264,17058088,17053001,17047490,17043779,17036383,17035405,17450230,17449906,17449548,17440589,17439956,17438654,17438114,17436311,17436239,17431894,17418558,17412799,17412321,17408107,17407503,17401546,17395259,17389614,17384833,17372834,17372271,17367411,17365577,17356914,17354258,17353498,17350979,17349292,17344026,17339646,17334642,17334320,17333388,17332146,17327360,17323822,17323057,17317888,17311260,17311259,17311050,17306151,17303386,17301815,17301261,17300365,17298693,17290027,17287626,17284634,17278618,17277043,17275478,17274465,17264399,17260091,17259654,17245555,17243563,17228344,17221112,17221000,17220339,17220211,17219389,17213520,17208363,17206530,17204166,17201138,17200768,17192785,17191208,17188847,17187508,17182005,17180579,17179726,17174622,17171786,17171228,17164649,16549163,14698652,14693836,14688536,14688016,14679361,14677182,14677097,14669613,14669168,14660985,14656945,14656021,14652356,14652285,14650352,14647408,14644226,14644077,14642003,14638877,14634838,14632302,14616766,14614398,14613740,14608109,14608052,14607573,14604831,14603192,14597244,14594111,1458664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1580579,1580580,1580581,1580590,1580585,1601421,1535021 4524 NM_005957,AF105977,AF105978,AF105979,AF105980,AF105981,AF105982,AF105983,AF105984,AF105985,AF105986,AF105987,AF398930,AJ249275,AL953897,AY338232,CH471130,AB209113,AJ237672,AY046560,AY046561,AY046562,AY046563,AY046564,AY046565,BC011614,BC018766,BC053509,CN355286 NP_005948,AAD17965,AAN40863,AAN40864,AAN40865,CAB81551,CAB81552,CAI15885,CAI15886,CAI15887,CAI15888,CAI15889,AAP88033,EAW71708,EAW71709,BAD92350,CAB41971,AAL17646,AAL17647,AAL17648,AAL17649,AAL17650,AAL17651,AAH18766,AAH53509,P42898,Q59GJ6,Q5SNW5,Q5SNW6,Q5SNW7,Q5SNW9,Q8IU67,Q8IU73,Q8TB78,Q9NY62,Q9NY63 Hs.214142 GDB:370882 methylenetetrahydrofolate reductase protein-coding 1315743 MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 1580863 8522195,17891500,17119116,16189514,15489334,14702039,12764149,12477932,3801490 10588 NM_006441,AC015871,AC021483,CH471136,AK054972,AL110101,BC012417,BC019921,BC037852,CK905549,L38928 NP_006432,EAW99132,AAH12417,AAH19921,AAH37852,AAC41945,P49914,Q49AH4,Q96EE9 Hs.459049 GDB:1313715 FLJ30410|HsT19268 protein-coding 1604316 MTHFSD methenyltetrahydrofolate synthetase domain containing 14702039,12477932 64779 NM_022764,AC009108,CH471114,AI263847,AK023060,AK023955,AK096836,AK125015,BC013911,BC112057,BC112059,CR611840 NP_073601,EAW95418,EAW95419,EAW95420,EAW95421,EAW95422,BAB14383,BAB14739,AAI12058,AAI12060,Q2M296 Hs.343627 FLJ12998|FLJ13893|MGC138262|MGC138264 protein-coding 1351631 MTHPR mitochondrially encoded replication primer 4525 GDB:118907 1345264 MTHSP1 mitochondrially encoded major H-strand promoter 4526 GDB:118908 1353032 MTHSP2 mitochondrially encoded minor H-strand promoter 4527 GDB:118909 1347555 MTIF2 mitochondrial translational initiation factor 2 During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. Two transcript variants encoding the same protein have been found for this gene. 1580863 17416734,14743216,12932832,12477932,9925935,9373149,8889548,8125298,7829522 4528 NM_001005369,AC012358,AF495546,CH471053,AF494407,AK225184,BC002667,BC009845,BC017243,BC039848,BC054048,BC064977,BC067352,BC082973,BU684812,CB961193,L34600,NM_002453 NP_002444,NP_001005369,AAM70196,EAX00103,EAX00104,EAX00105,AAM14617,AAH17243,AAH39848,AAH54048,AAH64977,AAA67038,P46199,Q05DA1,Q6P1N2,Q7Z5U0,Q8IWH1,AAI41421 Hs.149894 GDB:455033 protein-coding 1351566 MTIF2P1 mitochondrial translational initiation factor 2 pseudogene 1 12932832 80713 NG_002684,AL592494,AY091592 GDB:11508692 pseudo 1604201 MTIF3 mitochondrial translational initiation factor 3 12095986,17267121,14702039,12477932 219402 NM_152912,AL137059,CH471075,AF265440,AF410851,AK094420,BC039599,BC046166,CR594840 NP_690876,CAH70316,EAX08406,EAX08407,EAX08408,EAX08409,EAX08410,EAX08411,EAX08412,AAG44698,AAL04150,AAH39599,AAH46166,Q9H2K0 Hs.534582 IF-3mt|IF3(mt) protein-coding 1342574 MTL1 metallothionein-like 1 4529 GDB:119435 1352649 MTL2 metallothionein-like 2 4530 GDB:119436 1349197 MTL3 metallothionein-like 3 4531 GDB:119437 1350786 MTL4 metallothionein-like 4 6719135,6089206 4532 GDB:119438 1320315 MTL5 metallothionein-like 5, testis-specific (tesmin) Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10191092,16341674,14648882,12606435,12477932,11803038 9633 NM_004923,AP003732,CH471076,AK074817,AK128308,AK292358,AW293246,BC027593,BC054047,BC064579,BG772890,BM790577,U86074,NM_001039656,AP003096 NP_004914,EAW74718,EAW74719,EAW74720,BAC11228,BAC87376,BAF85047,AAH27593,AAH54047,AAH64579,AAD24668,Q4G182,Q6P2E2,Q6PHY4,Q6ZRD5,Q8NCC8,Q9Y4I5,NP_001034745 Hs.145932 GDB:9957844 CXCDC2|MTLT|TESMIN protein-coding 1343644 MTLSP mitochondrially encoded L-strand promoter 4533 GDB:118910 1312103 MTM1 myotubularin 1 This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. 1600519,1580863 9828128,8640223,17827085,17621527,17537630,16964243,15883335,15725586,15489334,14722070,14660569,12925573,12859411,12847286,12646134,12522554,12495846,12477932,12118066,12031625,11793470,11552027,11001925,10900271,10790201,10502779,10466421,10063835,9829274,9781038,9736772,9537414,9450905,9305655,9285787,1822801,1090027 1600519 4534 NM_000252,AC109994,AF002223,AF020676,CH471169,AK291710,AL832715,BC030779,BQ002481,CR591300,DC418907,U46024 NP_000243,AAC12865,EAW99377,EAW99378,EAW99379,EAW99380,BAF84399,AAH30779,AAC51682,Q13496 Hs.655056 GDB:119439 CNM|MTMX|XLMTM protein-coding 1315259 MTMR1 myotubularin related protein 1 This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. 1580863 9828128,14702039,12477932,12217958,11846405,11733541,11275328,9847074,9736772,8640223 8776 NM_003828,AF002223,CH471169,AF057354,AJ224979,AK001816,AK023451,AK024745,AK055513,AK226109,BC011250,BC032947,CR621153,U58032 NP_003819,EAW99381,EAW99382,EAW99383,EAW99384,EAW99385,EAW99386,EAW99387,EAW99388,AAD40368,CAA12271,BAB70939,AAH11250,AAH32947,AAC79117,Q13613,Q8NEC6,Q96FD1,Q96NG0 Hs.347187 GDB:9956902 protein-coding 1606536 MTMR10 myotubularin related protein 10 16381901,15489336,15231748,12495846,12477932,11230166,11076863 54893 AC087481,NM_017762,AC090829,CH471216,AA461184,AK000320,AL598227,AL832137,AL832603,BC050478,BC063296,BC094750,BC121171,BC121172,CR605921,CR607167,CR621765 NP_060232,EAW61258,EAW61259,BAA91083,AAH63296,AAI21172,AAI21173,Q0IJ45,Q0IJ46,Q0JUR4,Q9NXD2,CAL37747,AAI66657 Hs.30141,Hs.706035 FLJ20313 protein-coding 1605703 MTMR11 myotubularin related protein 11 14702039,12495846,12477932 10903 NM_181873,AL590487,CH471121,AK097000,BC032655,BC064372,BC094756,BC100818,BC100819,BC100820,BC100821,BQ446006,U78556,U78557 NP_870988,CAI12649,EAW53588,EAW53589,EAW53590,EAW53591,EAW53592,EAW53593,EAW53594,AAH64372,AAH94756,AAI00819,AAI00820,AAI00821,AAB36952,AAB36953,AAI66616 Hs.425144 CRA|RP11-212K13.1 protein-coding 1317364 MTMR12 myotubularin related protein 12 Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. 14702039,12847286,12495846,12477932,11504939,11214970 54545 NM_001040446,AC025181,AC091961,CH471118,AB051469,AF085901,AK000483,AK000967,AL833231,AY028703,BC057393,DB462159 NP_001035536,EAX10786,EAX10787,BAB21773,BAA91195,CAH10604,AAK26171,AAH57393,Q9C0I1 Hs.481836 3-PAP|PIP3AP protein-coding 1605051 MTMR14 myotubularin related protein 14 17008356,16344560,15186772,12477932,11256614,9110174,8619474 64419 NM_001077525,NM_001077526,NM_022485,AC022382,AC024163,CH471055,AF289603,AK026058,AK074792,AL713695,AY007098,AY545552,BC001674,BC025952,BC035690,BC050626,DA604126,DQ630520 NP_001070993,NP_001070994,NP_071930,EAW63965,EAW63966,EAW63967,EAW63968,EAW63969,AAL55787,BAB15340,BAC11211,CAD28494,AAS50151,AAH01674,AAH25952,AAH35690,AAH50626,ABG02221,Q8NCE2,Q8WYY9 Hs.475382 C3orf29|FLJ22405|FLJ90311|HJUMPY|hEDTP protein-coding 1604829 MTMR15 myotubularin related protein 15 15186772,12477932,10231032 22909 NM_014967,AC087481,CH471216,AB023235,AK290987,BC044890,BC047882,BX647391,CR596971,CR936727,CR936734 NP_055782,EAW61257,BAA76862,BAF83676,AAH47882,Q9Y2M0 Hs.584863 DKFZp451H236|DKFZp686K16147|KIAA1018 protein-coding 1323545 MTMR2 myotubularin related protein 2 This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found for this gene, but the protein products of some of these variants are likely not viable, as they are nonsense-mediated mRNA decay (NMD) candidates. 1580863 12837694,15998640,9736772,17880751,16410353,16344560,15489334,15342556,14690594,12668758,12477932,12398840,11835375,10802647,10673338,10470851,8640223 8898 NM_201281,NM_201278,NM_016156,NR_023354,NR_023355,NR_023356,AP000870,AP001877,CH471065,AB028996,AK027038,AK291277,AL705005,BC012086,BC034474,BC040432,BC052990,BG252116,BM475570,BP358035,BX107577,BX647997,DA220281,DA831307,DR762520,U58033 NP_958438,NP_958435,NP_057240,EAW66971,EAW66972,EAW66973,EAW66974,BAA83025,BAF83966,AAH52990,AAC79118,Q13614 Hs.181326 GDB:234472 CMT4B|CMT4B1|KIAA1073 protein-coding 1343929 MTMR3 myotubularin related protein 3 This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 11302699,11181995,10591208,9847074,9736772,9205841,8889548,8640223,10733931,16787938,16344560,15840652,15461802,14702039,11846405,11676921 8897 BU733010,CR456525,CR608861,DA126318,NM_153050,NM_153051,AC003071,AC003681,AC004819,CH471095,U58034,AB002369,NM_021090,AF233436,AF233437,AF233438,AK056895,AK289581,AW014234,BC142713,BC148216,BC151217,BC152455,BI462128 CAG30411,Q13615,Q9UPM2,AAI41655,AAI41657,CAK54556,CAK54855,NP_066576,NP_694690,NP_694691,AAB83949,AAB88872,EAW59849,EAW59850,EAW59851,EAW59852,EAW59853,EAW59854,EAW59855,EAW59856,AAC79119,BAA20826,AAF40203,AAF40204,AAF40205,BAB71303,BAF82270,AAI42714,AAI48217,AAI51218,AAI52456 Hs.474536 GDB:9957571 FLJ32333|FYVE-DSP1|KIAA0371|ZFYVE10 protein-coding 1321134 MTMR4 myotubularin related protein 4 1580863 15231748,12477932,11302699,10888877,9736772,9734811 9110 NM_004687,AC005666,CH471109,AB014547,AF264717,BC035609 NP_004678,EAW94454,EAW94455,BAA31622,AAF72539,AAH35609 Hs.514373 GDB:9955065 FYVE-DSP2|KIAA0647|ZFYVE11 protein-coding 1313370 MTMR6 myotubularin related protein 6 1580863 9736772,11256614,17081983,16847315,16381901,15489336,15489334,15057823,14702039,12890864,12847286,12646134,12477932,11230166,11076863 9107 NM_004685,AL590787,CH471075,AF072928,AF406619,AK025507,AK093237,AK094082,AL044815,AL832017,BC031834,BC035436,BC040012,BU177677,U47635 NP_004676,CAI39897,EAX08367,AAC78841,AAL01037,CAD89918,AAH31834,AAH40012,AAB18856,Q0JUU6,Q0JVA1,Q8N5Q4,Q92792,Q9Y217,CAL37559,CAL37715 Hs.643702 GDB:9955058 protein-coding 1315320 MTMR7 myotubularin related protein 7 1580863 9736772,12890864 9108 NM_004686,AC124074,CH471080,AF073482,BC130577,BC130579,CR749240 NP_004677,EAW63816,AAC77820,AAI30578,AAI30580,CAH18096,Q9Y216 Hs.625674 GDB:9955060 DKFZp781E194|MGC163449|MGC163451 protein-coding 1347790 MTMR8 myotubularin related protein 8 1580863 16189514,12477932,11275328,9373149,8125298 55613 NM_017677,AL034408,AL356317,CH471132,AK000133,AK225231,BC012399,CR605498 NP_060147,CAI39933,CAI39934,EAX05410,EAX05411,EAX05412,EAX05413,BAA90964,AAH12399,Q96EF0 Hs.442892 GDB:11509710 FLJ20126 protein-coding 735915 MTMR9 myotubularin related protein 9 This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. 1580863 17855449,16189514,15489334,14702039,12890864,12477932,11896452,11472061,10458905,9373149,9110174,8619474,8125298 66036 NM_015458,AF131216,AJ297824,CH471157,AF052099,AJ297823,AK000444,AK022071,AK223525,AL080178,BC017985,BC022003,BC034990,BC093788,BC101623,BU631532,BX538176 NP_056273,CAC51115,EAW65607,EAW65608,EAW65609,CAC51114,BAA91170,BAD97245,CAB45763,AAH22003,AAH93788,AAI01624,Q53EW4,Q96QG7,Q9Y4N6,ABM84895,ABW03647,AAH34990 Hs.591395 GDB:11498277 C8orf9|DKFZp434K171|LIP-STYX|MGC126672|MTMR8 protein-coding 1346939 MTND2P1 NADH dehydrogenase 2 pseudogene 1 387315 GDB:10796501 1349959 MTND2P2 MTND2 pseudogene 2 56168 NG_002320,AL590407 bA522L3.2 nadh dehydrogenase 2 pseudogene 2 pseudo 1352571 MTNR1A melatonin receptor 1A This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This receptor is a G-protein coupled, 7-transmembrane receptor that is responsible for melatonin effects on mammalian circadian rhythm and reproductive alterations affected by day length. The receptor is an integral membrane protein that is readily detectable and localized to two specific regions of the brain. The hypothalamic suprachiasmatic nucleus appears to be involved in circadian rhythm while the hypophysial pars tuberalis may be responsible for the reproductive effects of melatonin. 1580863 9645677,7946354,8700109,18067741,17803522,17645699,17409522,17349020,17072839,16098099,15489334,15266022,14675129,12973153,12767050,12477932,12088876,11940583,11897804,11841602,11606436,11448873,10612428,10598579,10471411,8988899,7558006,1144527 4543 NM_005958,AB029933,AC110761,AF085498,CH471056,AF435588,BC074946,BC074947,BC113816,BC126297,BC126299,EU432127,U14108 NP_005949,BAA85303,EAX04617,AAL30809,AAH74946,AAH74947,AAI13817,AAI26298,AAI26300,ABY87926,AAB17720,P48039,Q29RX9,Q8WZ72 Hs.243467 GDB:511377 MEL-1A-R|MT1 protein-coding 736711 MTNR1B melatonin receptor 1B This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. 1580863 7568007,18001530,17632395,17409522,17316165,11940583,11606436,10696804,10612428,8988899,8647286,17108395,16098099,15913560,15489334,15266022,12767050,12477932,12088876 4544 NM_005959,AB033598,AP002371,AP003171,CH471065,AF467654,AY521019,BC069163,U25341 NP_005950,BAA92315,EAW66891,AAL75503,AAS00461,AAH69163,AAC50612,P49286,Q8TEV7 Hs.569039 GDB:582526 MEL-1B-R|MT2 protein-coding 1318828 MTO1 mitochondrial translation optimization 1 homolog (S. cerevisiae) This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. 15901843,15542390,15509579,15489334,14574404,12939650,12477932,12011058,10810093,9373149,8125298 25821 AL833823,AY078985,AY078986,AY947716,BC005808,BC011051,BE501391,CR605187,CR616760,DN993156,AK225828,NM_133645,NM_012123,NM_001123226,AF442963,AL603910,CH471051,CQ783513,AF132937,AF319422,AF469110,AF469111,AJ420530,AK026073,AK074625 CAD38685,AAL85490,AAL85491,AAY51628,AAH05808,AAH11051,Q4G1Y7,Q9Y2Z2,NP_598400,NP_036255,NP_001116698,AAL35894,CAI14880,CAI14881,CAI14882,EAW48760,EAW48761,EAW48762,EAW48763,EAW48764,EAW48765,EAW48766,EAW48767,EAW48768,CAF86693,AAD27712,AAG42814,AAL82394,AAL82395 Hs.347614 CGI-02 protein-coding 1348078 MTOHR mitochondrially encoded heavy strand origin of replication 4545 GDB:118918 1343060 MTOLR mitochondrially encoded light strand origin of replication 4546 GDB:118919 1604816 MTP18 mitochondrial protein 18 kDa MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM] 15998911,15790807,15489334,15461802,15155745,12477932,11042152,10591208,9847074,8889548 51537 NM_016498,NM_001003704,AC004832,CH471095,CS185601,AF060924,AF151076,AK026104,AY927431,BC001608,BC009300,BC014446,BC030989,BC038831,BC046132,BQ187590,CB142469,CR456345,CR600583,CR607289,CR621724 NP_057582,NP_001003704,AAF19257,EAW59889,EAW59890,EAW59891,CAJ42782,AAG43136,AAF36162,AAH01608,AAH09300,AAH14446,AAH30989,AAH38831,AAH46132,CAG30231,Q9UDX5 Hs.335614,Hs.706898 HSPC242 protein-coding 1603905 MTPN myotrophin 12031792,11256614,16982933,16381901,15489336,15489334,14702039,12853948,12690205,12477932,11971907,11474205,11230166,11076863,10329199,8576259,8508536,1633812,17353931 136319 BC034722,CR599361,CR609295,CR611568,CR625657,NM_145808,AC015987,CH236950,CH471070,AF106075,AK055660,AK056225,AL110137,AL834231,BC028093 P58546,Q69YG1,CAL38094,CAL38144,NP_665807,EAL24056,EAW83859,EAW83860,AAP97226,CAD38909,AAH28093 Hs.654894 GDB:11500612 FLJ31098|GCDP|V-1 protein-coding 737616 MTPN myotrophin 632799,1581046,1581047,1581048 632799,1581046,1581047,1581048 94351 731933 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. 1581049,1581050,1302512,1601425,1580863,1359026,1300048 8968737,17353931,18483342,18447718,18435414,18427977,18406541,18386810,18378576,18351371,18322994,18281142,18273817,18249021,18204969,18199722,16947783,16894458,16861746,16799656,16778415,16712703,16709328,16580699,16485733,16470748,16407418,16365025,16333305,16328059,16284371,16268464,16142417,16115349,16051637,16051610,16013960,16006998,15979034,15894670,15889417,15866085,15820491,15797993,15790587,15719048,15598777,15551285,15514969,15354395,15202865,18174236,18060320,18053808,18034637,18023275,18004208,17993766,17967524,17925002,17904392,17891500,17853476,17822659,17726616,17702010,17691219,17664238,17655928,17636160,17617021,17611986,17596206,17595805,17590289,17581676,17574963,17553479,17551576,17546637,17533396,17522601,17461517,17454638,17450230,17449906,17436311,17417062,17412799,17339646,17311260,17311259,17287836,17220339,17160942,17152488,17151928,17119116,17119065,17074544,17035141,17024475,16985020,15201366,15198953,15148588,15138479,15117811,15111988,14977639,14760703,14744749,14702039,14684825,12964809,12923861,12893022,12810988,12716294,12670934,12649067,12642343,12482550,12477932,12375236,12372672,12164325,12111380,12068375,12020105,11920232,11684547,11592436,11584084,11342450,11257268,11204591,11186937,11074524,11074217,10791559,9683607,9587027,9242908,9013615,8968736,8968735,2407589,2070814,1583909,1517041,1516297 1581049,1302512,1601425,1359026 4548 NM_000254,XM_928733,XM_939682,AL359185,AL359259,CH471098,AK090487,AK125206,AK127317,AY429553,BC015894,BC067276,BC130616,BX641132,DC377743,U71285,U73338,U75743 NP_000245,XP_933826,XP_944775,EAW70066,EAW70067,AAH15894,AAI30617,CAE46059,AAC51188,AAB39704,AAB58906,Q5VXE0,Q5VXE1,Q6MZH4,Q96B84,Q99707 Hs.498187 GDB:119440 FLJ33168|FLJ43216|FLJ45386|MS protein-coding 1352853 MTRF1 mitochondrial translational release factor 1 The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. 1580863 9838146,17803939,15489334,15057823,14702039,12477932,10773675 9617 NM_004294,AL354696,CH471075,AA573449,AF072934,AK055086,BC027731,BC038427,BC042196,BC065496,CA489782 NP_004285,CAI16615,CAI16617,EAX08648,EAX08649,EAX08650,EAX08651,EAX08652,EAX08653,AAD12759,AAH27731,AAH42196,O75570,Q5T6Y1,Q8N6Z2 Hs.382176 GDB:9958875 MGC47721|MTTRF1|RF1 protein-coding 1316759 MTRF1L mitochondrial translational release factor 1-like 17803939,16344560,14702039,12477932,9373149,8125298 54516 NM_019041,NM_001114184,AL080276,CH471051,AK027684,AK095240,AK225321,AK225970,AK290662,BC011873,BC014428,BC105973,CR616466,DA152954 NP_061914,NP_001107656,CAB65994,CAI18896,CAI18897,CAI18898,CAI18899,EAW47712,EAW47713,EAW47714,EAW47715,EAW47716,BAB55295,BAF83351,AAH11873,AAH14428,AAI05974,Q9UGC7 Hs.225836,Hs.304818 MGC102748|mtRF1a protein-coding 1343158 MTRNR3 mitochondrially encoded 5S-like sequence 4551 GDB:118922 1318580 MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. 1581051,1580863,1359037 9501215,18483342,18435414,18427977,18386810,18378576,18257130,18249021,18226574,18222012,18204969,18199722,18174236,18061941,18034637,18023275,18004208,17993766,17967524,17934692,17925002,17904392,17892308,17853476,17822659,17655928,17636160,17611986,17596206,17581676,17554763,17553479,17546637,17533396,17522601,17477549,17461517,17454638,17436311,17417062,17376725,17311260,17311259,17220339,17152488,17136115,17119116,17113603,17101561,17087642,17079868,17074544,17035141,17024475,17009228,16985020,16947783,16894458,16861746,16820193,16769880,16580699,16575899,16485733,16470748,16351505,16316363,16268464,16115349,16013960,16006998,15979034,15894670,15889417,15866085,15797993,15714522,15612980,15514969,15514263,15489334,15354395,15347655,15216546,15159311,15135249,15059614,14977639,14967039,14716779,14652285,14632302,12939653,12923861,12876480,12855226,12810988,12807760,12801615,12716294,12649067,12642343,12590188,12555939,12482550,12477932,12416982,12375236,12020105,11807890,11806787,11592436,11472746,10791559,10564814,10500018,10484769,10444342 1581051,1359037 4552 NM_024010,NM_002454,AC010346,AC025174,AF121213,CH471102,AF025794,AF121214,BC035977,BC054816,BC062577,BC109216,BC109217 NP_076915,NP_002445,AAF17303,AAF17304,EAX08090,EAX08091,EAX08092,EAX08093,AAC39667,AAF16876,AAH54816,AAI09217,Q7Z4M8,Q9UBK8 Hs.481551 GDB:9836121 MGC129643|MSR protein-coding 1320466 MTSS1 metastasis suppressor 1 1580863 15545630,15489334,15488640,15383276,14752106,14702039,12482861,12477932,9455477,8889548,12570871,12082544,17442377,16921485,16344560,16280553,15684034 9788 NM_014751,AC090198,AC090922,CH471060,AB007889,AF086645,AF116674,AI041104,AJ710067,AK027015,AK126651,AK126989,BC023998,BU674412,DA451172,EF560715,U50573 NP_055566,EAW92069,EAW92070,EAW92071,EAW92072,EAW92073,EAW92074,BAA24859,AAF15947,AAF71094,BAC86629,BAC86779,AAH23998,ABQ59025,O43312,Q6ZT16,Q6ZTG0,Q9P1G0 Hs.336994,Hs.700429 DKFZp781P2223|FLJ44694|KIAA0429|MIM|MIMA|MIMB protein-coding 1343796 MTTAS mitochondrially encoded termination associate sequence 4554 GDB:118924 1347106 MTTER mitochondrially encoded transcription terminator 4557 GDB:118927 1346953 MTTFH mitochondrially encoded transcription factor binding site H 4559 GDB:118929 1345731 MTTFL mitochondrially encoded transcription factor binding site L 4560 GDB:118930 1354282 MTTFX mitochondrially encoded transcription factor binding site X 4561 GDB:118931 1350819 MTTFY mitochondrially encoded transcription factor binding site Y 4562 GDB:118932 1318126 MTTP microsomal triglyceride transfer protein MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. 1581043,1581044,1581045,1625482,1625483,1625489,1625485,1625486,1625487,1625492,1580863,1625490 1439810,18482281,18325332,18280132,18065580,18034366,18027103,17924655,17854051,17825806,17784784,17700364,17690102,17476189,17464986,17339647,17275380,16721486,16617174,16611701,16518588,16458034,16344560,16328015,16321277,16291571,16183064,16015282,15953542,15911777,15864113,15795421,15719047,15701598,15654125,15635487,15547295,15547294,15504742,15489334,15337761,15297289,15136504,15094225,15028851,14741197,14732481,14615589,12818411,12775233,12716735,12691171,12630961,12477932,12231571,12116231,12020640,11849654,11834530,11792722,11358959,10946006,10679949,9915855,9694898,9373149,9211060,9106493,8939939,8856971,8533758,8361539,8125298,8111381,7961826,7664034,7545943 1581043,1581044,1581045,1625482,1625483,1625489,1625485,1625486,1625487,1625492,1625490 4547 AC083902,NM_000253,CH471057,X83013,X83030,AA609331,AK225328,AK290793,BC062696,BC125110,BC125111,BE047932,CB162574,CR596497,DB083001,X59657,X75500,X91148 Q6P5T3,NP_000244,EAX06106,CAA58142,BAF83482,AAH62696,AAI25111,AAI25112,CAA42200,CAA53217,CAA62585,P55157,Q0Z7A7 Hs.195799 GDB:228961 ABL|MGC149819|MGC149820|MTP microsomal triglyceride transfer protein (large polypeptide, 88kda) protein-coding 1343554 MTUS1 mitochondrial tumor suppressor 1 This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. 708603 17301065,16887298,16650523,15123706,14702039,12692079,12477932,10574462,16189514 708603 57509 AY363099,BC007328,BC017740,BC033842,BC098381,BC117564,BC142971,BX648879,CR595170,CR605239,CR626173,CR626256,NM_001001925,NM_001001924,NM_001001931,NM_020749,AC027117,AC124069,CH471080,AB033114,AF086371,AF121259,AF293357,AF394227,AK000172,AK024357,AK026661,AK093875,AK125188,AK289750,AL096842 CAB50791,AAQ24172,AAH07328,AAH33842,AAI42972,CAH56128,Q9ULD2,AAI40068,AAI40069,NP_001001925,NP_001001924,NP_001001931,NP_065800,EAW63804,EAW63805,EAW63806,EAW63807,EAW63808,EAW63809,EAW63810,BAA86602,AAG33674,AAL37035,BAB14894,BAF82439 Hs.7946 ATIP|DKFZp586D1519|DKFZp686F20243|FLJ14295|KIAA1288|MP44|MTSG1 protein-coding 1351611 MTX1 metaxin 1 1580863 17353931,8660965,17624330,17510655,15024629,12477932,11454742,11027586,10381257,9331372,9045676,7753840 4580 NM_198883,NM_002455,NM_000157,NM_001005741,NM_001005742,NM_001005749,NM_001005750,AF023268,AL713999,CH471121,U46920,BC001906,BC035616,BE394487,BG717732,BQ003402,BU552401,CF529296,CR591813,CR605982,CR608869,CR611714,CR614718,CR619225 NP_942584,NP_002446,AAC51819,CAI95085,CAI95086,CAI95087,EAW53105,EAW53106,EAW53107,EAW53108,AAC50490,AAH01906,Q13505,Q4VX24,Q4VX25,Q9BUU3 Hs.282997,Hs.490874 GDB:9499441 MTX|MTXN protein-coding 1350518 MTX1P metaxin 1 pseudogene 9331372,8660965,7753840 4581 NG_001160,AF023268,AL713999,U46921 GDB:9499444 MTXP|psMTX pseudo 1315110 MTX2 metaxin 2 The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane and be involved in the import of proteins into the mitochondrion. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10381257,17624330,17510655,15489334,14702039,12477932 10651 NM_001006635,NM_006554,AC016739,AC073069,CH471058,AF053551,AI991560,AK001287,AK289359,BC017271,BC067831,BC088359,BG699784,CR617418,CR622668 NP_001006636,NP_006545,AAY14795,AAX93188,EAX11076,EAX11077,EAX11078,AAC25105,BAF82048,AAH17271,AAH67831,AAH88359,O75431,Q53S50,Q53SQ2,Q8IZ68 Hs.470728 GDB:9958094 MGC111067 protein-coding 1601695 MTX3 metaxin 3 15087125,14702039,12477932 345778 AC112184,CH471084,NM_001010891,AK091375,AW957034,BC035085,BC150295,BX537790,BX538064,BX647596,DB456588 NP_001010891,EAW95840,BAC03649,CAD97995,CAI46098,Q5HYI7,Q7Z380,AAI60186 Hs.531418 DKFZp686O1788 protein-coding 737252 MUC1 mucin 1, cell surface associated This gene is a member of the mucin family and encodes a membrane bound, glycosylated phosphoprotein. The protein is anchored to the apical surface of many epithelia by a transmembrane domain, with the degree of glycosylation varying with cell type. It also includes a 20 aa variable number tandem repeat (VNTR) domain, with the number of repeats varying from 20 to 120 in different individuals. The protein serves a protective function by binding to pathogens and also functions in a cell signaling capacity. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length nature of only some has been determined. 1697589,18381450,18314133,18308334,18268124,18161663,18154934,18094420,18089786,18085378,18055557,18037881,18030564,17974963,17972522,17916995,17916404,17889671,17852076,17764657,17726465,17717071,17692456,17678912,17671696,17668208,17664159,17659847,17650217,17649808,17645748,17617560,17609879,17600314,17593083,17592322,17581677,17575006,17565019,17524503,17504123,17465489,17409826,17401217,17393422,17333267,17227128,17203187,17195076,17128152,17114345,17102128,17090543,17078870,17064405,17050588,16983337,16969297,16925492,16888623,16857798,16846534,16752227,16740655,16720361,16707592,16670941,16627342,16585136,16547220,16518063,16475027,16427018,16403482,16369486,16358996,16357367,16320110,16289035,16272309,16266293,16194893,16188033,16158055,16155793,16127146,16094706,16042579,16034102,15987679,15972891,15971251,15944787,15944279,15919376,15897748,15893750,15710329,15699174,15623537,15604091,15599383,15489654,15471854,15322085,15187110,15169768,15149576,15147861,15142990,15102686,15041735,15020226,15009981,14998492,14766232,14707484,14688481,14636048,14620915,14616551,14578499,14534730,14509156,12955090,12939402,12925576,12893366,12826677,12820726,12798775,12754287,12734543,12724017,12652076,12646057,12640674,12618757,12553374,12477932,12462382,12441351,12417297,12377938,12372344,12364335,12199709,12161443,12135769,12105832,12090474,12088101,12054500,9751614,9685530,9312074,9295285,9212228,9139698,9096884,8912645,8889548,8835095,8608966,8604237,8143972,7988707,7925397,7664271,7635656,7515892,6094338,3417635,3268039,2715633,2597151,2394722,2351132,2318825,2268309,2112460,1688329,1556125,15221004,12750561,12000758,11984004,11920540,11877440,11872746,11847293,12019297,11836704,11813869,11787681,11483589,11464247,11350974,11341784,11311200,11278868,11181067,11152665,11101635,11062147,10859271,10835316,10610356,10373415,10334541,10197628,9819408 4582 NM_001044392,NM_001018016,NM_002456,NM_001044391,NM_001018017,NM_001044390,NM_001044393,AL713999,AY463543,CH471121,L38597,M35093,M61170,AF125525,AF348143,AY327582,AY327583,AY327584,AY327599,AY327600,AY466157,BC120974,BC120975,BM969296,BM971650,CR596859,EF583642,EF583643,EF583644,EF583645,EF583646,EF583647,EF583648,EF670721,EF670722,EF670723,J05581,J05582,M26316,M31823,M32738,M32739,M34088,M34089,S81736,S81781,U60259,U60260,U60261,X52228,X52229,X80761,Z17324,Z17325,AY327585,AY327586,AY327587,AY327588,AY327589,AY327590,AY327591,AY327592,AY327595,AY327596,AY327597,AY327598,EF583650,EF583651,EF583652,EF583653,EF583654,EF583655,EF583656,EF670706,EF670707,EF670708,EF670709,EF670710,EF670711,EF670712,EF670713,EF670714,EF670715,EF670716,EF670717,EF670718,EF670719,EF670720,EF583649 NP_001037857,NP_001018016,NP_002447,NP_001037856,NP_001018017,NP_001037855,NP_001037858,CAI95071,CAI95072,CAI95073,CAI95074,CAI95075,CAI95076,CAI95077,CAI95078,CAI95079,CAI95080,AAR18816,EAW53116,EAW53119,AAA57348,AAB59612,AAB53150,AAD27842,AAK30142,AAP97013,AAP97014,AAP97027,AAP97028,AAP97029,AAR28764,AAI20975,AAI20976,ABQ59617,ABQ59618,ABQ59619,ABQ59620,ABQ59621,ABQ59622,ABQ59623,ABS01307,ABS01308,ABS01309,ABS01310,AAA59876,AAA60019,AAA36336,AAA35757,AAA35804,AAA35806,AAA35805,AAA35807,AAD14369,AAD14376,AAD10856,AAD10857,AAD10858,CAA36477,CAA36478,CAA56734,CAA78972,CAA78973,P15941,Q14877,Q4VX32,Q4VX33,Q4VX34,Q4VX35,Q4VX36,Q4VX37,Q4VX39,Q6S4Y3,Q7Z536,Q7Z537,Q7Z538,Q7Z539,Q7Z540,Q7Z541,Q7Z542,Q7Z543,Q7Z544,Q7Z545,Q7Z546,Q7Z547,Q7Z548,AAP97015,AAP97016,AAP97017,AAP97018,AAP97019,AAP97020,AAP97021,AAP97022,AAP97023,AAP97024,AAP97025,AAP97026,ABQ59624,ABQ59625,ABQ59626,ABQ59627,ABQ59628,ABQ59629,ABQ59630,ABQ59631,ABS01293,ABS01294,ABS01295,ABS01296,ABS01297,ABS01298,ABS01299,ABS01300,ABS01301,ABS01302,ABS01303,ABS01304,ABS01305,ABS01306,Q7Z549,Q7Z550,Q7Z551,Q7Z552,Q9UMI8 Hs.89603 GDB:120705 CD227|EMA|H23AG|MAM6|PEM|PEMT|PUM mucin 1 protein-coding 1346210 MUC10 mucin 10, submandibular gland salivary mucin 386748 BC042902 1348967 MUC11 mucin 11 1580863 10463611 10070 Q9UKN0 GDB:9954962 1347863 MUC12 mucin 12, cell surface associated 1580863 10463611,12477932 10071 XM_379904,XM_001724943,XM_001714400,XM_936315,AC105446,CH471197,AF147790,AF147791,AK024856,AK025404,BC127877 XP_379904,XP_001724995,XP_001714452,XP_941408,EAW50190,AAD55678,AAD55679,AAI27878,Q9UKN1 Hs.489355 GDB:9954964 MUC11 mucin 12 protein-coding 1350619 MUC13 mucin 13, cell surface associated 1302405,1580863 12975309,11278439,12507512,17058067,15904467,14702039 1302405 56667 NM_033049,AC026342,CH471052,AB035807,AF286113,AK000070,AY358831 NP_149038,EAW79404,BAB19651,AAK56861,BAA90925,AAQ89190,Q9H3R2 Hs.5940 GDB:10796809 DRCC1|FLJ20063 mucin 13, epithelial transmembrane protein-coding 1351658 MUC15 mucin 15, cell surface associated 17720698,15489334,12975309,12477932,12047385 143662 NM_145650,AC036114,CH471064,AJ417818,AJ507429,AK026790,AK128337,AY358668,BC020912,BC058007 NP_663625,EAW68297,EAW68298,EAW68299,CAD10624,CAD45555,AAQ89031,AAH20912,AAH58007,Q8N387 Hs.407152 GDB:11508423 PAS3|PASIII protein-coding 1346263 MUC16 mucin 16, cell surface associated 1580863 14676194,12766047,18342144,18317225,18042071,17942799,17852813,17852076,17604678,17592322,17449138,17413979,17301071,17300679,17285443,17211626,17067392,16979301,16923563,16384952,16194893,16174214,15788735,15599662,15483748,15016783,14764598,14702039,14566828,12893366,12734200,12218296,11937443,11920644,11786729,11369781,10737800,12615972 94025 NM_024690,AC008734,AC016584,AF361486,AF414442,AK024365,AK056791,AK128681,AK128856,AK128857,BF359193,BI256451 NP_078966,AAK74120,AAL65133,BAB14899,BAC87568,Q8WXI7,Q9H7S7 Hs.432676 GDB:11504425 CA125|FLJ14303 mucin 16 protein-coding 1312511 MUC17 mucin 17, cell surface associated Membrane mucins, such as MUC17, function in epithelial cells to provide cytoprotection, maintain luminal structure, provide signal transduction, and confer antiadhesive properties upon cancer cells that lose their apical/basal polarization.[supplied by OMIM] 9299468,17990980,16737958,16341674,12888891,12477932,12027806,11855812 140453 XM_001719956,AC105446,AF016692,AF016693,AF016694,AF430017,AJ606307,AJ606308,AK026404,BC126315,BM768498,BM773519,BM987743,NM_001040105 NP_001035194,XP_001720008,AAB71685,AAB71686,AAB71687,AAL89737,CAE54435,CAE54436,AAI26316,O14760,O14762,Q685J3 Hs.271819 GDB:11506304 MUC3 mucin 17 protein-coding 1343631 MUC19 mucin 19, oligomeric 15340121,14702039,12882755 283463 XM_497341,XM_001714368,XM_936590,AC024935,AC074030,AC107023,AK093065,AY236870,BG718209,CR749517,DV080669,DV080670 XP_497341,XP_001714420,XP_941683,BAC04041,AAP41817,Q7Z5P9,Q8NA85 Hs.632712 FLJ35746 mucin 19 protein-coding 735987 MUC2 mucin 2, oligomeric mucus/gel-forming This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. 1580863 2254452,2703501,18000536,17982272,17659847,17509526,17471237,17401217,17333267,17321686,17203232,17058067,16754877,16733847,16721789,16552339,16475027,16447040,16285957,16227528,16188033,16142311,15733066,15665513,15345696,15240568,15081123,15048136,15000151,14678781,14616551,14550542,14525978,12848848,12820724,12582180,12559945,12527922,12507512,12490305,12482999,12417297,12391274,12374798,12237307,12218214,12135769,12077118,11893907,11813869,11445551,11062147,10737800,10336486,9865718,9722984,9668061,9407109,9224654,9065467,8975711,8300571,7926500,7864825,2265829,1985113,1980995,1885763,1550588,1400449,12820725 4583 NM_002457,AC139749,AF257165,AF257166,AJ007575,CH471158,M74027,U67167,U68061,AA527400,AF257167,AW054915,BG982960,BQ340542,CV354692,DV080627,L21998,M22404,M22405,M57417,M86523,M94131,M94132 NP_002448,AAG18516,AAG18515,EAX02421,EAX02422,AAA59875,AAC51519,AAG18517,AAB95295,AAA36333,AAA36334,AAA63229,AAA59861,AAA59163,AAA59164,O00243,Q02817,Q14883,Q14884,Q99322,Q9HBC5,Q9HBC6,Q9HBC7,Q9UMI9 Hs.315,Hs.647533 GDB:120203 MLP|SMUC protein-coding 1312550 MUC20 mucin 20, cell surface associated This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The shorter isoform expressed by this gene is localized to the plasma membrane, whereas the longer isoform might be secreted. The C terminus of this protein associates with the multifunctional docking site of the met proto-oncogene and suppresses activation of some downstream met signaling cascades. The protein features a tandem repeat domain that varies between 2 and 6 copies in different individuals. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 15314156,16508246,16029633,15342556,14702039,14565953,12975309,12477932,10737800,10718198,8889548 200958 NM_152673,NM_001098516,XM_001726694,AB098733,AC069513,CH471052,AB037780,AB098731,AK027314,AK075138,AY358449,BC029267,BC044243,BF883124,BM697386,BM721408,BM986861,BP352469,BU685426,DC348309 NP_689886,NP_001091986,XP_001726746,BAD06720,EAW78022,BAA92597,BAD06718,BAB55035,BAC11428,AAQ88814,AAH29267,AAH44243,Q8N307 Hs.293647,Hs.599259 FLJ14408|KIAA1359 1643250 BW134_H protein-coding 736898 MUC3A mucin 3A, cell surface associated 1580863 9334251,10405327,10512748,18163520,14550470,12958310,12853948,11289722,10973822,9847074,2393399,1362870 4584 XM_001725354,XM_001719499,AB038782,AC105446,AC118759,AF007195,AF007196,AF113616,AY307930,AB038784,AF007194,AF143371,AF143372,AF143373,M55405,M55406 XP_001725406,XP_001719551,BAB12116,AAB84382,AAB84383,AAF13032,AAQ73824,BAB12118,AAC02272,AAD45882,AAD45883,AAD45884,AAA63772,AAA63773,O14652,Q02505,Q9H3Q6 Hs.489354,Hs.697904 GDB:127611 MUC3 mucin 3 protein-coding 1347141 MUC3B mucin 3B, cell surface associated 18163520,12958310,12853948,11289722,10973822,10512748,10405327,9334251,2393399 57876 XM_001125753,XM_001719326,AB038781,AJ291390,AB038783,AY307931 XP_001125753,XP_001719378,BAB12115,CAC19572,BAB12117,AAQ73825,Q6W762,Q7LDU4,Q9H195 Hs.489354 GDB:10796976 MUC3|MUC3A mucin 3b protein-coding 735893 MUC4 mucin 4, cell surface associated The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. 1580863 12434309,12386815,12153560,12102554,12084055,11925450,11727258,11687512,11598901,11062147,10880978,9858486,9620877,8245407,7745080,1673336,1351710,12477932,10024507,10920259,18381409,18008338,17621592,17592322,17553805,17406026,17292332,17058067,17037983,16914178,16891313,16880776,16857800,16814944,16807280,16799633,16779668,16690615,16624867,16475027,16344560,16329125,16302265,16266293,16049287,16007204,15897748,15672420,15461591,15184872,14744777,14690056,12748185,12732353,12495942 4585 NM_004532,NM_018406,AC069513,AF522055,AJ000282,AJ430032,AF058803,AF058804,AF177925,AJ000281,AJ010901,AJ242541,AJ242542,AJ242543,AJ242544,AJ242545,AJ242546,AJ242547,AJ242548,AJ242549,AJ242550,AJ276359,AJ277412,AJ277505,AJ400633,AJ400849,AJ400850,AJ400851,AJ400852,AJ400853,AJ400854,AJ400855,AJ400856,NM_138297,AJ400857,AJ400858,AW190850,BC131770,BX957139,DB227644,EF091824,M64594 NP_612154,NP_004523,NP_060876,AAM66747,CAD22550,AAC34750,AAC34751,AAD53171,CAA03985,CAB38059,CAB85597,CAB85598,CAB85599,CAB85600,CAB85601,CAB85602,CAB85603,CAB85604,CAB85605,CAB85606,CAB81773,CAC10061,CAC14585,CAC10062,CAC14134,CAC14135,CAC14136,CAC14137,CAC14138,CAC14139,CAC14140,CAC14141,CAC14142,CAC14143,ABK78776,AAA63230,O75456,O76037,Q99102,Q9UK75,Q9UP82 Hs.369646 GDB:127394 HSA276359 mucin 4 1643250 BW134_H protein-coding 737024 MUC5AC mucin 5AC, oligomeric mucus/gel-forming 10611155,14749330,18285671,18283638,18163520,18073139,18027866,18006877,17982272,11988092,16465045,16409634,16251127,16188033,16148149,16142316,16142311,15640347,15563276,15531749,15235131,14988081,14535999,14527933,12972643,12820724,12690113,12652076,12527922,12477932,12417511,12391274,12360467,12042033,11992401,11919081,11535137,11445551,11181995,11062147,9620876,9588204,9506983,8948439,7826332,7775418,7513696,12135769,12507512,12417297,17646388,17659847,17621824,17565737,17555715,17543073,17471237,17401217,17395013,17356062,17333267,17330845,17321686,17237423,17227128,17203232,17148666,16787389,16722930,16596179,16552336,16540890,16500622,16475027 4586 XM_001714774,XM_001714104,NM_017511,AADD01112371,AF016834,AJ001403,AJ298318,CH471158,EU127454,Z34276,AF015521,AF043909,AJ001402,AJ298317,AL833060,BC033831,XM_001134429,U06711,X81649,Z34277,Z34278,Z34279,Z34280,Z34281,Z34282,Z48314 XP_001134429,XP_001714826,XP_001714156,NP_059981,AAC15951,CAA04738,CAC83675,EAX02424,EAX02425,ABV02582,CAA84030,AAC15950,AAC19168,CAA04737,CAC83674,CAH56330,Q14890,AAH33831,AAA18431,CAA57309,CAA84031,CAA84032,CAA84033,CAA84034,CAA84035,CAA84036,CAA88307,O75372,P98088,Q14886,Q14887,Q14888,Q14889,Q14891,Q14892,Q7LDT3 Hs.534332,Hs.558950,Hs.654574 GDB:454136 MUC5 mucin 5, subtypes a and c protein-coding 1347084 MUC5B mucin 5B, oligomeric mucus/gel-forming 1580863 7916618,1718282,17671696,17621824,17471237,17063754,16740002,16540890,16341674,16188033,15709052,15563276,14988081,14758553,14690056,12768436,12756239,12459324,11996097,11853536,11825880,11713095,11062147,10217161,9804771,9790959,9201995,9164870,9147051,9013550,8889548,8554565,7513696,10728974 727897 X74370,X74955,NM_002458,XM_001719349,AC061979,AF107890,AJ004862,U78554,Y09788,Z72496,AA577624,AF086604,AF253321,BM740816,BM796192,BM817984,CA450235,DC418119,S80993,U63836,U78550,U78551,U95031 CAA52408,CAA52910,O00446,Q14879,Q93043,Q9HC84,Q9NYE4,NP_002449,XP_001719401,AAG33673,CAA06167,AAC51344,CAA70926,CAA96577,AAC67545,AAF64523,AAB35930,AAB61398,AAC51342,AAC51343,AAB65151 Hs.523395 GDB:128436 MG1|MUC5|MUC9 protein-coding 1353445 MUC6 mucin 6, oligomeric mucus/gel-forming 7680650,17982272,17471237,17401217,17227128,17009402,16807756,16554811,16475027,16447040,15979574,15716126,15280409,15081123,14702039,12360467,11988092,10330458,10209489,9422745,9195947,10673290 4588 NM_005961,AC139749,AY314024,AY370683,AY500284,AK092533,AK096772,AK098503,AY312160,AY458429,U97698 NP_005952,AAQ86940,AAR14188,AAS76674,BAC03911,BAC04860,AAQ82434,AAS13634,AAC51370,Q4L213,Q6W3D1,Q6W4X9 Hs.528432 GDB:134734 mucin 6, gastric protein-coding 1344843 MUC7 mucin 7, secreted The MUC7 gene encodes a small salivary mucin, which is thought to function in a protective capacity by promoting the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing (Kirkbride et al., 2001 [PubMed 11378823]).[supplied by OMIM] 1580863 16203048,16778149,16759176,16514118,15731026,15501816,15489334,14702039,12766201,12507512,12477932,12459324,12417297,12135769,11996097,11378823,9538010,9363439,8838308,7690757,16189514 4589 NM_152291,AC108518,CH471057,DQ157434,AK093828,BC025688,BX537739,BX647190,BX648903,L13283 NP_689504,EAX05621,AAH25688,Q8TAX7,ABM85003 Hs.631946 GDB:138799 DKFZp686J03256|FLJ27047|MG2|MGC34772 mucin 7, salivary protein-coding 1347821 MUC8 mucin 8 1580863 16188033,15966694,15615708,15330148,12842905,9070607,8002930 4590 U14383 AAA58346,Q12964,Q5BLQ2 Hs.592357 GDB:375780 protein-coding 1606746 MUCL1 mucin-like 1 18269587,16720387,15880534,15684711,15489334,15340161,15096563,12975309,12477932,12019145,10737800 118430 NM_058173,AC117496,CH471054,AF414087,AI905624,AY359062,AY651259,BC111421 NP_477521,EAW96795,AAL02119,AAQ89421,AAT72303,AAI11422,Q96DR8 Hs.348419 SBEM protein-coding 1606503 MUL1 mitochondrial ubiquitin ligase activator of NFKB 1 12761501,11256614,18213395,18207745,18082624,16710414,16381901,16189514,15489334,14702039,12477932,11230166,11076863 79594 NM_024544,AL391357,CH471134,CQ871304,AB097015,AK022937,AL833889,BC010101,BC014010,CR593496 NP_078820,CAH73470,EAW94926,EAW94927,EAW94928,EAW94929,CAH56833,BAC77368,BAB14317,CAD38745,AAH10101,AAH14010,Q969V5,CAL38209,CAL38566 Hs.10101 C1orf166|FLJ12875|MAPL|MULAN|RNF218|RP11-401M16.2 protein-coding 1318053 MUM1 melanoma associated antigen (mutated) 1 17690696,17296585,14702039,12477932,11042152,7644523 84939 AC004623,AC005329,CH471139,U20908,AF151045,AK025936,AK027774,AK075241,AL360266,BC008098,BC019585,NM_032853,BC021016,BC082987,BC110874,BC130443,BG723598,BI553935,BQ071619,BQ895780,BU541563,CR457395,CR617170,U20896,U20897 NP_116242,EAW69509,EAW69510,EAW69511,EAW69512,EAW69513,EAW69514,EAW69515,AAC50238,AAF36131,BAB15287,BAB55357,BAC11493,CAB96179,AAH08098,AAH82987,AAI10875,AAI30444,CAG33676,AAC50239,AAC50240,Q13108,Q13109,Q13110,Q2TAK8,Q9H6H2,Q9NPR8,AAH19585,Q9P0R5 Hs.515016 FLJ14868|FLJ22283|HSPC211|MGC131891|MGC163315|MUM-1 protein-coding 1349980 MUM1L1 melanoma associated antigen (mutated) 1-like 1 15772651,15489334,14702039,12477932 139221 NM_152423,AL135922,CH471120,Z68289,AK056478,AK090835,BC031229,BC109292,BC109293 NP_689636,EAX02743,EAX02744,BAB71194,BAC03529,AAH31229,Q5H9M0 Hs.592221 FLJ33516|MGC129994|MGC129995 protein-coding 1605676 MUPCDH mucin-like protocadherin This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternative splicing has been identified, with observed variation resulting in the presence or absence of domains. In addition, splicing occurs in the 5' UTR but transcripts including these variations have not been described completely. 16344560,16335952,14702039,12975309,12589428,12477932,12167596,11031102,10817752,10801787 53841 NM_031264,NM_021924,AF258674,AP006284,CH471158,BC038405,BC107063,DA373160,AF258675,AF258676,AF258677,AF258678,AF258679,AF276242,AF301909,AI640262,AK000226,AK000384,AK025012,AW137262,AY358368 NP_112554,NP_068743,AAG16730,AAG16731,EAX02361,EAX02362,AAQ88734,AAH38405,Q3B840,Q58EZ6,Q9HBB8,EAX02363,EAX02364,EAX02365,EAX02366,EAX02367,AAG16732,AAG16733,AAG30821,AAG33495,BAA91021,BAA91130,BAB15052 Hs.165619 GDB:10029267 FLJ20219|MU-PCDH|MUCDHL protein-coding 1606650 MURC muscle-restricted coiled-coil protein 18332105,12477932,8889549 347273 NM_001018116,AL354917,AA192639,BC090888,EU487253 NP_001018126,AAH90888,ACA62935,Q5BKX8 Hs.99004 protein-coding 1323679 MUS81 MUS81 endonuclease homolog (S. cerevisiae) 1580863 18310322,18054789,17934473,17903171,17555773,16456034,16344560,15805243,15489334,14702039,14638871,14617801,12721304,12686547,12477932,12374758,11741546,11073977,9373149,8125298,16189514 80198 NM_025128,AP001201,AP001266,CH471076,AF425646,AK024665,AK095326,AK126820,AK223564,AL353934,BC009999,BI816797,CR601399,CR604400,DA449863 NP_079404,EAW74453,EAW74454,AAL28065,BAB14953,BAD97284,CAH56369,AAH09999,Q53ES5,Q659C2,Q96NY9 Hs.288798 FLJ21012|FLJ44872 mus81 endonuclease homolog (yeast) protein-coding 731781 MUSK muscle, skeletal, receptor tyrosine kinase Intercellular communication is often mediated by receptors on the surface of one cell that recognize and are activated by specific protein ligands released by other cells. Members of one class of cell surface receptors, receptor tyrosine kinases (RTKs), are characterized by having a cytoplasmic domain containing intrinsic tyrosine kinase activity. This kinase activity is regulated by the binding of a cognate ligand to the extracellular portion of the receptor. DeChiara et al. (1996) [PubMed 8653786] noted that the RTKs, known to be expressed in cell type-specific fashions, play a role critical for the growth and differentiation of those cell types. For example, members of the neural-specific TRK family that recognize nerve growth factor are absolutely required for the survival and development of discrete neuronal subpopulations, and the receptor tyrosine kinases TIE1 (MIM 600222) and TIE2 (MIM 600221) play a critical role in the development of normal blood vessels.[supplied by OMIM] 633425,1580863 7546737,18378885,18165682,17661994,17192614,17012237,16857268,16794080,16487930,15691710,15496425,15159418,12885777,12477932,11754179,10878022,10477765,9136771,8653786,8274451 633425 4593 NM_005592,AL157881,AL513328,CH471105,AA448972,AF006464,BC109098,BC109099,BG825304,Z25436 NP_005583,CAH69976,CAH69977,CAH69978,CAI17349,CAI17350,CAI17351,EAW59065,EAW59066,EAW59067,AAB63044,AAI09099,AAI09100,CAA80923,O15146,Q15457,Q32MJ8,Q32MJ9,Q5VZW7,Q5VZW8 Hs.521653 GDB:6045058 MGC126323|MGC126324 protein-coding 1352078 MUSTN1 musculoskeletal, embryonic nuclear protein 1 17519359 389125 NM_205853,AC099667,AJ276556,BC130550,BC130552,BX089772,CR603484 NP_995325,CAC81756,AAI30551,AAI30553,Q8IVN3 Hs.699481 DKFZp686G21125|Mustang protein-coding 1344450 MUT methylmalonyl Coenzyme A mutase This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. 1580863 2567699,17728257,17597648,17445044,17410422,17401587,17113806,16641088,16344560,16281286,15781192,15643616,15489334,9554742,9503014,9285782,9242908,8990001,7912889,7909321,6124211,6102092,2907507,2881300,2453061,1980486,1977311,1670635,1351030,1346616,24458,16189514,14718574,14654360,14574404,12477932,12402345,11528502,11350191,10923046 4594 NM_000255,NG_007100,AL590668,CH471081,M37510,AB208845,AK292568,BC016282,BT007434,BX647789,CA444307,DA777441,DB290266,M65131 NP_000246,CAI14311,EAX04329,EAX04330,EAX04331,AAA99226,BAD92082,BAF85257,AAH16282,AAP36102,AAA59569,P22033,Q59HB4 Hs.485527 GDB:120204 MCM protein-coding 1315693 MUTED muted homolog (mouse) This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene. 15102850,17618940,15489334,14574404,12923531,12576321,12477932,12191018,12019270,11912185 63915 NM_201280,AL023694,AL096800,CH471087,AF426434,AK025442,BC032438,BC119644,BC119645,BX647336,CR749569 NP_958437,CAI20106,EAW55225,AAL99385,AAH32438,AAI19645,AAI19646,CAH18364,Q0VDJ6,Q8TDH9 Hs.150837 DKFZp686E2287|MU protein-coding 731074 MUTYH mutY homolog (E. coli) This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. 1600191,1600201,1580863 10583946,11801590,7823963,18454351,18422726,18383848,18301448,18294051,18271935,18186383,16492928,16408224,16292541,16287072,16134146,16042573,15943555,15931596,15890374,15761860,15690400,15673720,15635083,15523092,15489334,15450125,15449173,15366000,15290654,15273732,15236166,15188161,15146197,15034862,14999774,14991577,14961129,18155253,18091433,18027849,18022921,17956577,17949294,17931073,17920897,17703316,17674103,17505512,17489848,17417778,17252231,17220334,17219385,17219200,17207658,17203305,17081686,17039270,17031395,16941501,16938257,18172263,16890597,16831587,16804517,16774938,16773329,16710414,16645203,16609022,16600130,16557584,16521226,12966098,12853198,12807753,12707038,12606733,12477932,12393807,12056405,11818965,11805113,11554314,11092888,10684930,10471731,9611236,8682794,16189514 1600191,1600201 4595 U63329,AB025227,AB032920,AB032921,AB032922,AB032923,AB032924,AB032925,AB032926,AB032927,AB032928,AB032929,AL560568,BC003178,BM926983,CN413115,CR595712,CR601333,CR617363,CR589986,NM_012222,NM_001048171,NM_001048172,NM_001048173,NM_001048174,AB048788,AF527839,AL359540,CH471059 EAX06996,EAX06997,EAX06998,EAX06999,EAX07000,EAX07001,AAC50618,BAA84104,BAA89336,BAA89337,BAA89338,BAA89339,BAA89340,BAA89341,BAA89342,BAA89343,BAA89344,BAA89345,AAH03178,EAX06995,Q5T411,Q5T412,Q5T413,Q5T418,Q8TDZ3,Q9UIF7,Q9ULY0,NP_036354,NP_001041636,NP_001041637,NP_001041638,NP_001041639,BAB86886,AAM78555,CAI21713,CAI21714,CAI21715,CAI21716,CAI21717,CAI21718,CAI21719,CAI21720,CAI21721,EAX06991,EAX06992,EAX06993,EAX06994 Hs.271353 GDB:9315115 MGC4416|MYH protein-coding 736074 MVD mevalonate (diphospho) decarboxylase The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. 1580863,1300048 8626466,15489334,12736493,12646231,12477932,8769113 4597 NM_002461,NG_007291,AC116552,CH471184,AB209229,AY203927,BC000011,BT006930,U49260 NP_002452,EAW66790,EAW66791,EAW66792,BAD92466,AAP34450,AAH00011,AAP35576,AAC50440,P53602,Q59G80,Q6XYE3,ABM92179,ABM84650 Hs.252457 GDB:1323307 FP17780|MPD mevalonate pyrophosphate decarboxylase protein-coding 732031 MVK mevalonate kinase This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. 1600528,1580863,1300048 9325256,9146921,8302606,6255462,1356376,16189514,10369261,1377680,18193043,17978300,17213252,16806233,16234278,15536479,15489334,15188372,15037710,14749336,14730012,14702039,12634869,12477932,12477733,12444096,11313769,11313768,11111075,10417275,10401001,10369262,9464248,9392419 1600528 4598 NM_000431,NG_007096,NM_001114185,NG_007702,AC007570,AF033345,AF217535,CH471054,AB209722,AF217536,AK023087,AK315678,BC016140,CR593675,CR596805,CR622040,CR622427,DC421549,M88468 NP_000422,NP_001107657,AAF82407,EAW97870,EAW97871,EAW97872,EAW97873,BAD92959,AAF82406,BAG38043,AAH16140,AAB59362,Q03426,Q59ET9,ABM82015,ABM85197 Hs.130607 GDB:134189 FLJ96772|LRBP|MK|MVLK protein-coding 732476 MVP major vault protein This gene encodes the major vault protein which is a lung resistance-related protein. Vaults are multi-subunit structures that may be involved in nucleo-cytoplasmic transport. This protein mediates drug resistance, perhaps via a transport process. It is widely distributed in normal tissues, and overexpressed in multidrug-resistant cancer cells. The protein overexpression is a potentially useful marker of clinical drug resistance. This gene produces two transcripts by using two alternative exon 2 sequences; however, the open reading frames are the same in both transcripts. 7585126,17615361,17438350,17415755,17337707,17178862,17134750,16815308,16614510,16566920,16441665,16418217,16396496,16373071,15902504,15709737,15592455,15588985,15489334,15379935,15272088,15133037,14695705,14636345,12919388,12622134,12612883,12576456,12477932,12177006,11986944,11986335,11940320,11937269,11855821,11297743,11071864,10551828,10477748,10439368,10404077,9628887,9029166,8879378,8774142,8763338,7671223,15750632 9961 NM_005115,NM_017458,AC009133,AC120114,AJ238509,AJ238512,AJ238513,AJ238514,AJ238515,AJ238516,AJ238517,AJ238518,AJ238519,AJ291365,CH471238,AJ291366,AJ291367,BC008932,BC015623,CR618185,X79882,AJ238510,AJ238511 NP_005106,NP_059447,CAB55354,CAB55355,CAC35313,EAW79980,EAW79981,EAW79982,EAW79983,EAW79984,EAW79985,EAW79986,EAW79987,CAC35314,CAC35316,AAH15623,CAA56256,Q14764,ABM87351,ABW03877,EAW79979 Hs.632177 GDB:9958698 LRP|VAULT1 protein-coding 1353561 MX1 myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) In mouse, the interferon-inducible Mx protein is responsible for a specific antiviral state against influenza virus infection. The protein encoded by this gene is similar to the mouse protein as determined by its antigenic relatedness, induction conditions, physicochemical properties, and amino acid analysis. This cytoplasmic protein is a member of both the dynamin family and the family of large GTPases. 1580863 2154602,15757897,9389754,16780588,17947524,17845304,17374778,17307214,17177148,17126411,17075576,16978069,16894313,16843495,16824203,16792864,16769349,16704297,16595158,16459719,16390004,16168514,15850793,15766558,15602733,15489334,15221897,15163707,15135736,15117331,15063762,15047845,14872030,14752052,14702039,14687945,12944978,12867637,12595530,12539042,12477932,12447867,11916975,11911186,11847228,11805446,11716541,10971132,10830953,10590150,9735310,9373149,9093949,9060610,8798556,8125298,2607176,2481229,2161946,1674496,1629950,1548781,14499622,16189514 4599 NM_002462,AC005612,AF135187,AL163285,AL773570,AL773577,AP001610,CH471079,L35664,L35666,L35669,L35671,L35672,L35673,AK093008,AK096355,AK225885,AY186254,BC014222,BC032602,BC052255,CR592170,CR595895,M30817,M33882,A00209 NP_002453,AAD43063,CAB90556,EAX09600,EAX09601,EAX09602,EAX09603,EAX09604,BAC04017,AAO31807,AAH14222,AAH32602,AAA36337,AAA36458,P20591,Q86YP5,Q8NAA8,Q96CI3,CAA00041 Hs.517307 GDB:120206 IFI-78K|IFI78|MX|MxA protein-coding 1351068 MX2 myxovirus (influenza virus) resistance 2 (mouse) The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. 1580863 8798556,17702266,15489334,14702039,12477932,10830953,9405443,9208807,3162334,2481229,2154602,16189514 4600 NM_002463,AC004497,AC004508,AL163285,AL773578,CH471079,AK122952,AK127895,AY312582,BC035293,CR600045,M30818,M33883 NP_002454,AAC08451,AAC08448,CAB90555,EAX09605,EAX09606,EAX09607,AAH35293,AAA36338,AAA36459,P20592,Q75MY7,Q75MY8,ABM83042,ABM86237 Hs.926 GDB:120207 MXB protein-coding 1353608 MXD1 MAX dimerization protein 1 MAX dimerization protein belongs to a subfamily of MAX-interacting proteins. This protein competes with MYC for binding to MAX to form a sequence-specific DNA-binding complex, acts as a transcriptional repressor (while MYC appears to function as an activator) and is a candidate tumor suppressor. 8425218,7829091,18203738,18155722,17998413,17082780,15815621,15489334,12824180,12553908,12538578,12477932,11602341,11430826,11031250,10229200,9528857,9150134,9150133,8290278,7889570,15235594 4084 NM_002357,AC019206,CH471053,BC036402,BC051693,BC069377,BC069433,BC098396,BC113531,BC117260,CR536495,CR541692,L06895 NP_002348,AAY14867,EAW99838,EAW99839,AAH69377,AAH69433,AAH98396,AAI13532,AAI17261,CAG38734,CAG46493,AAA36194,Q05195 Hs.468908 GDB:137181 MAD|MAD1|MGC104659 protein-coding 734323 MXD3 MAX dimerization protein 3 16189514,15489334,14702039,12477932,9373149,8521822,8125298 83463 NM_031300,AC146507,CH471195,AF114834,AK057034,AK222579,BC000745,BC032586,BC041690,CR595562,CR613684,CR626344,AL833959 NP_112590,EAW85016,EAW85017,EAW85018,EAW85019,EAW85020,AAP97233,BAB71352,BAD96299,AAH00745,AAH32586,Q05BW2,Q9BW11,CAD38809,ABM83660,ABM86907,ABM87212 Hs.702195 GDB:11511190 MAD3|MGC2383 protein-coding 1312919 MXD4 MAX dimerization protein 4 This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. 1580863 8521822,16167342,15862967,15815621,15489334,15469726,14702039,12477932,12418961,11230181,10593926,16189514 10608 AL158068,CH471131,Z49250,Z68282,AF040963,AF082740,AF187724,AK024501,AK026392,NM_006454,BC002713,BC028340,BC068060,BT019969,BT019970 NP_006445,CAM20460,EAW82530,EAW82531,EAW82532,EAW82533,EAW82534,EAW82535,EAW82536,CAA89217,AAB97009,AAF98553,AAQ13695,BAB15791,AAH02713,AAH68060,AAV38772,AAV38773,Q14582,Q7Z2R2,Q9BUD5,Q9H7H9 Hs.655020 GDB:9958005 MAD4|MST149|MSTP149 protein-coding 736546 MXI1 MAX interactor 1 Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. 1298988,1600205,1600204,1580863 8425219,9624006,17697116,17577784,17452451,17102621,16126174,15809730,15467743,15164054,15121849,14559981,12477932,11875718,11351349,10497252,10470286,9669667,9528857,8918230,8889548,8838813,8290278,7959753,7954804,7889571,7789959,7773287,16189514,11498788 1298988,1600205,1600204 4601 U32515,AA640393,AA854855,AI373426,AI580132,AL538051,AW291670,BC012907,BC016678,BC035128,BF056857,BG700036,BM668806,BM927870,BQ924073,BT007069,BX417051,CB960506,CF594363,CR536576,CR594058,CR616482,D63940,U32514,NM_130439,NM_001008541,NM_005962,AL360182,AY576484,CH471066,S78470,U32512,U32513 AAH12907,AAH35128,AAP35732,CAG38813,BAA09972,P50539,Q5T3K2,Q5T3K4,Q5T3K5,Q5T3K9,Q5V9L6,Q96E53,ABM82590,ABM85777,NP_569157,NP_001008541,NP_005953,CAI15474,CAI15475,CAI15476,CAI15477,CAI15478,CAI15479,CAI15480,AAT84074,EAW49565,EAW49566,EAW49567,EAW49568,EAW49569,EAW49570,AAD14282,AAC50446 Hs.501023,Hs.602078 GDB:137182 MAD2|MGC43220|MXD2|MXI max interacting protein 1 protein-coding 1351646 MXRA1 matrix-remodelling associated 1 54594 GDB:10796502 1348886 MXRA2 matrix-remodelling associated 2 54593 GDB:10796503 1350968 MXRA3 matrix-remodelling associated 3 54592 GDB:10796504 1348274 MXRA4 matrix-remodelling associated 4 54591 GDB:10796505 1344277 MXRA5 matrix-remodelling associated 5 15609104,15489334,12477932,12101425 25878 NM_015419,AC004616,CH471074,AF245505,AL049946,BC011846,BC064986,BC080586 NP_056234,EAW98724,AAF86402,CAB43220,AAH11846,AAH64986,AAH80586,Q9NR99 Hs.369422 GDB:10796506 DKFZp564I1922 protein-coding 1626570 MXRA5P matrix-remodelling associated 5 pseudogene 12815422 286544 NG_002806,AC011302 ADLICANP pseudo 1353240 MXRA6 matrix-remodelling associated 6 12477932 54589 Q7Z2G4,Q7Z2S0 BC063142,AF172820,AF173897,AF176917 AAQ13614,AAQ13644,AAQ13661,Q7Z2G4,Q7Z2S0 Hs.471381 GDB:10796507 DKFZp586K0617|MST091|MST122|MST127|MSTP091|MSTP122|MSTP127 protein-coding 1348883 MXRA7 matrix-remodelling associated 7 16625196,15489334,14702039,12477932 439921 NM_001008528,NM_198530,NM_001008529,AC005837,AY646229,CH471099,AK097108,AK123486,AK127801,AK128460,AW131567,AW888225,AY426672,BC053983,BC094776,BE205810,BE502793,CA422561,CB993617,CR608878,CR610996 NP_001008528,NP_940932,NP_001008529,AAT66918,EAW89425,EAW89426,EAW89427,EAW89428,BAC87451,AAR88426,AAH53983,P84157,Q6DTV5,Q6ZR64 Hs.250723,Hs.597019,Hs.707692 GDB:10796508 FLJ41492|FLJ46603|PS1TP1|TMAP1 protein-coding 1346231 MXRA8 matrix-remodelling associated 8 14702039,14603461,12975309,12477932,9373149,8125298 54587 NM_032348,AL139287,CH471183,AB052096,AK027269,AK095966,AK225028,AL050202,AY358391,BC006213,BC017312,CR592046 NP_115724,CAI23188,CAI23189,EAW56220,EAW56221,EAW56222,EAW56223,BAD05132,BAB55010,AAQ88757,AAH06213,AAH17312,Q5TA37,Q9BRK3 Hs.558570 GDB:10796509 DKFZp586E2023|MGC3047 protein-coding 1353717 MYADM myeloid-associated differentiation marker 1302485,1580863 17097684,16303743,15489334,15146197,14702039,12975309,12477932,12075932,10733104 1302485 91663 NM_001020820,NM_001020819,NM_138373,NM_001020821,NM_001020818,AC008440,CQ783403,CQ859714,AF087882,AI074232,AK027693,AK075276,AK093999,AY037147,AL357205,AY358582,BC013995,BC095412,CN277531,CN284532,CR599377,CH471135 NP_001018656,NP_001018655,NP_612382,NP_001018657,NP_001018654,EAW72159,EAW72160,CAF86608,CAH25907,AAP97182,BAB55302,BAC11513,BAC04265,AAK67628,AAQ88945,AAH13995,AAH95412,Q96S97 Hs.380906 GDB:9864988 SB135 protein-coding 1605571 MYADML myeloid-associated differentiation marker-like 14702039,12477932 151325 NR_003143,AC093393,CH471053,AK057470,BC031088,BC038980 AAY24031,EAX00429,BAB71502,AAH31088,AAH38980,Q53R84,Q96M12 Hs.528847 pseudo 1349179 MYB v-myb myeloblastosis viral oncogene homolog (avian) 1580863 18070937,17712044,17690249,17670747,17599807,17452517,17435759,17363689,17242210,17095623,16977606,16861354,16797705,16631597,16597594,16461764,16299810,15927960,15778089,15747776,15687240,15509555,15489334,15221349,15187020,15169551,12927788,12631292,12529244,12477932,12424255,12370369,12196545,11973331,11896618,11848471,11792321,11781241,11779867,11313925,10747903,10656693,10378697,10318867,10233885,9823328,9809063,9566892,9447996,8960373,8756344,8329139,8302594,15082531,16799563,2189102,3014652,18195038,18093978,8302584,7784067,7688794,3540945,3007038,2687764,2202948,1944282,10619021,11423988,15194430,10660576,15308626,15691758 4602 AF104863,AJ606317,AJ606318,AJ606319,AJ606320,AJ606321,AJ606322,AJ606323,AJ606324,AJ616235,AJ616791,NM_005375,AL023693,CH471051,M95584,U22376,AJ616805,AY787443,AY787444,AY787445,AY787446,AY787447,AY787448,AY787449,AY787450,AY787451,AY787452,AY787453,AY787454,AY787455,AY787456,AY787457,AY787458,AY787459,AY787460,AY787461,AY787462,AY787463,AY787464,AY787465,AY787466,AY787467,AY787468,AY787469,AY787470,AY787471,AY787472,AY787473,AY787474,AY787475,BC035996,BC064955,M13665,M13666,M15024,X17469,X52125,X52126 AAC96326,CAE55168,CAE55169,CAE55170,CAE55171,CAE55172,CAE55173,CAE55174,CAE55175,CAE82649,CAF04477,CAF04478,NP_005366,CAI20197,CAI20198,CAI20199,CAI20200,EAW47967,EAW47968,EAW47969,EAW47970,EAW47971,EAW47972,EAW47973,EAW47974,EAW47975,EAW47976,EAW47977,EAW47978,AAA72118,AAB49034,AAB49035,AAB49036,AAB49037,AAB49038,AAB49039,CAF04480,CAF04481,CAF04482,CAF04483,CAF04484,CAF04485,CAF04479,AAH64955,AAA52030,AAA52031,AAA52032,CAA35503,CAA36371,CAA36372,P10242,Q14025,Q5THS4,Q5THS5,Q708E1,Q708E2,Q708E3,Q708E4,Q708E5,Q708E6,Q708E7,Q708E8,Q708E9,Q708J0,Q70AC3,Q9UMI7 Hs.654446 GDB:119441 Cmyb|c-myb|c-myb_CDS|efg protein-coding 69133 MYBBP1A MYB binding protein (P160) 1a 10644447,17196614,17081983,16964243,16565220,15635413,15489334,15302935,14744933,14702039,14676191,12477932,12429849,12171929,11790298,11779876,11230166,9447996,8889548,8302594,17353931 10514 NM_014520,NM_001105538,AC118754,CH471108,AF147709,AK095205,AL133098,AL136595,AY093673,BC000641,BC050546,BF111023,CB243989,DC346952 NP_055335,NP_001099008,EAW90435,EAW90436,EAW90437,AAF33021,CAB61409,CAB66530,AAM44451,AAH00641,AAH50546,Q8NEW2,Q9BQG0 Hs.22824 GDB:9957521 FLJ37886|P160|PAP2 myb binding protein 1a protein-coding 1315840 MYBL1 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 1580863 3060855,2065336,10660576,8058310,12477932,7987850,7821437 4603 NM_001080416,AC083928,CH471068,BC101186,BC101187,BC101188,S75881,X13294,X66087 NP_001073885,EAW86912,EAW86913,AAI01187,AAI01189,AAB32716,CAA31656,CAA46886,P10243,Q495F9,Q495G0,Q6LD85 Hs.654538 GDB:128089 A-MYB|AMYB|MGC120059|MGC120061 protein-coding 1318263 MYBL2 v-myb myeloblastosis viral oncogene homolog (avian)-like 2 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Transcript variants may exist for this gene, but their full-length natures have not been determined. 1580863 8125298,8123011,8062924,7642110,3060855,1984793,1717494,1376749,16189514,12748276,10766737,15489334,15302935,15256398,14769798,14506250,12947099,12927788,12673206,12645566,12477932,12475768,12439743,11997503,11973331,11780052,11733503,11522824,11423988,11264176,11259168,10871850,10744766,10656684,10645009,10593981,10544265,10095772,9840932,9373149,9012818,8812502,8314782,8142646,10770937,17588787,17563750,17159899,17098733,17081983,16551698,16476973,15618219 4605 AL121886,CH471077,X82032,AK223482,NM_002466,BC007585,BC053555,BU178833,BX647151,CR591125,CR593650,CR598128,CR600287,CR620461,X13293 ABM84448,ABM86871,NP_002457,CAC08392,EAW75951,CAA57552,BAD97202,AAH07585,AAH53555,CAA31655,P10244,Q53F07 Hs.179718 GDB:128109 B-MYB|BMYB|MGC15600 protein-coding 1351602 MYBPC1 myosin binding protein C, slow type 1580863 11256614,11230166,11076863,9252413,8889549,7757816,3011605,15385448,8375400,1429890,16918501,16407297,16381901,16003462,15489336,14702039,12628722,12477932,12154082 4604 AL832000,AL832332,AL832350,AL832354,AL832456,AL834249,BC015187,BC030980,BC065720,BC092418,BC117217,BQ942432,BX499532,BX649073,CR609402,F01203,X66276,X73114,NM_002465,NM_206819,NM_206820,NM_206821,AC010205,AC090671,AC117505,CH471054,AA196860,AK056587,AK057284,AK292976,AL589595,AL596726,AL831993 CAD89907,CAD91144,CAD38625,CAD91153,CAD91150,CAD89927,CAD38925,AAH65720,AAH92418,AAI17218,CAH56129,CAA46987,CAA51545,Q00872,Q17RR7,Q569K7,Q63HJ3,Q6P096,Q86T39,Q86T42,Q86T48,Q86TA8,Q86TC8,Q8N3L2,Q8N3R4,CAL37612,NP_002456,NP_996555,NP_996556,NP_996557,EAW97663,EAW97664,EAW97665,EAW97666,EAW97667,EAW97668,EAW97669,EAW97670,EAW97671,EAW97672,BAF85665 Hs.654589 GDB:135901 MYBPCC|MYBPCS|slow-type protein-coding 1323136 MYBPC2 myosin binding protein C, fast type 1580863 8375400,18201573,17876814,17081983,12477932,12386147,12154082,9252413,8889549 4606 NM_004533,AC020909,CH471135,AA086285,BC130536,BC136389,CF552888,CF553029,X73113 NP_004524,EAW71865,EAW71866,AAI30537,AAI36390,CAA51544,Q14324 Hs.85937 GDB:229368 MGC163408|MYBPC|MYBPCF protein-coding 1314284 MYBPC3 myosin binding protein C, cardiac MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. 1580232,1580233,1580234,1580235,1580236,1580237,1580238,1580239,1580863 17192269,15601779,7493025,11815426,15166115,18403758,18383048,18374358,18337725,18273486,17937428,17560599,16754800,16651346,16566405,16344560,16199542,16087648,16004897,15769446,15737656,15671604,15582318,15563892,15519027,15213454,15114369,15000344,14563344,12974739,12951062,12818575,12787675,12721663,12707239,12628722,12379228,12358155,12202917,12110947,11955864,11499719,11499718,10736283,10672519,10521296,10424815,9742053,9614495,9562578,9541115,9541104,9218526,9048664,8791411,8631348,8358441,7744002,7493026,6448079,352343 1580232,1580233,1580234,1580235,1580236,1580237,1580238,1580239 4607 NM_000256,NG_007667,AC090582,AY518390,CH471064,U91629,Y10129,AJ708511,AJ708699,AK291569,AL691822,AU140784,BC136543,BC136546,BC142685,BC151211,DA563514,EF560722,S80778,S80782,X84075 NP_000247,AAR89909,EAW67927,EAW67928,EAW67929,AAC04620,CAA71216,BAF84258,AAI36544,AAI36547,AAI42686,AAI51212,ABQ59032,AAB35662,AAB35663,CAA58882,Q13659,Q14896 Hs.524906 GDB:579615 CMH4|DKFZp779E1762|FHC|MYBP-C protein-coding 734272 MYBPH myosin binding protein H 1580863 8486381,15489334,12477932,12154082,10024460 4608 NM_004997,AC105940,CH471067,L05607,U27266,BC044226,L05606 NP_004988,EAW91466,AAA02904,AAB86737,AAH44226,AAA36339,Q13203 Hs.927 GDB:138479 norvegicus myosin binding protein h protein-coding 1606910 MYBPHL myosin binding protein H-like 12477932 343263 NM_001010985,AL390252,CH471122,AK129834,BC108664,BC132900,BC132902 NP_001010985,CAI13179,EAW56378,EAW56379,AAI32901,AAI32903,Q5T2Z7 Hs.443402 protein-coding 731438 MYC v-myc myelocytomatosis viral oncogene homolog (avian) The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini. The synthesis of non-AUG initiated protein is suppressed in Burkitt's lymphomas, suggesting its importance in the normal function of this gene. 1580901,1601453,1580863 2834731,9308237,9708738,10597290,12706874,9924025,10962037,15994933,18483343,18413597,18323656,18314492,18297523,18292777,18262050,18256542,18256156,18242516,18240345,18235046,18216297,18206725,18206534,18204787,18190704,18157115,18089500,18085637,18066065,18059365,18026954,18024371,17959148,17917571,17913706,17908964,17881732,17873522,17822678,17785457,17785433,17784791,17766436,17765874,17728244,17726380,17706770,17704800,17700029,17699159,17698969,17670825,17643117,17634226,17622571,17616526,17613764,17606868,17599065,17597761,17587243,17573914,17568564,17567920,17560940,17558397,17541401,17525531,17503467,17486099,17485441,17482131,17466981,17466258,17452451,17445886,17444495,17431415,17404512,17404030,17363738,17310999,17268552,17264126,17170079,17159920,17158641,17151361,17146439,17146437,17145812,17141659,17114293,17093053,17082780,17082179,17081983,17070983,17050536,17046748,17028906,17001014,16996503,16984727,16964280,16940161,16874304,16857742,16809765,16797278,16788099,16785237,16724113,16706751,16690525,16682952,16675879,16631470,16628215,16596619,16582589,16572399,16554306,16552729,16543245,16541139,16537801,16537449,16508012,16490593,16478988,16466700,16432227,16423996,16423995,16410805,16410719,16378632,16376880,16367922,16352593,16328057,16316993,16308474,16295419,16293596,16287840,16269333,16260605,16210249,16205115,16201965,16174239,16173081,16172399,16169462,16167342,16139224,16126174,16116477,16107734,16107691,16094360,16085756,16007143,15992821,15991278,15988031,15986448,15972952,15965094,15944709,15937962,15929079,15878876,15856024,15800668,15769738,15763593,15756435,15743499,15739117,15723054,15723053,15716988,15697230,15688026,15674325,15663936,15645079,15629428,15601838,15595642,15580293,15542830,15528212,15522869,15516975,15489334,15474507,15468060,15459488,15457447,15361884,15355849,15287031,15286700,15282543,15243561,15199147,15199070,15198123,15192039,15191563,15190416,15160911,15126105,15108364,15083194,15077166,15071503,15067010,14991929,14769798,14760071,14744757,14724288,14697225,14672406,14663583,14663479,14645547,14645543,14625288,14576301,14532990,12970749,12944920,12909717,12873812,12855588,12842909,12829833,12824159,12821782,12818373,12808131,12783888,12776177,12748187,12729735,12721301,12688321,12673205,12660246,12646176,12644583,12637527,12637327,12575534,12562237,12545156,12538578,12529648,12509468,12490316,12477932,12452058,12446731,12435808,12420224,12394763,12379776,12362975,12360279,12356725,12237776,12226097,12213716,12209953,12177005,12149248,12130502,12082260,12080043,12077335,12072203,12049739,12036888,12032779,12031912,12027803,11968011,11960382,11956070,11916966,11909963,11877389,11877298,11861398,11850082,11848471,11848444,11840336,11839798,11817538,11804592,11795828,11777933,11602341,11567024,11443860,11311202,11282029,10899308,10551811,10446203,10421840,10319872,10229200,9797456,9792694,9788437,9689053,9680483,9461566,9315742,9312026,9187264,9129988,8755740,8668343,8386367,8377829,8266081,8220424,8076603,7957875,7838535,7729426,7651436,7642555,6714223,6578511,6547209,6431612,6419122,6414718,6324175,6321164,6304729,6304538,6298632,3778453,3540591,3277717,3243428,3033665,2663470,2430795,2006410,1914517,1748630,1597196,1559612,1318011,11208609,17353931,10611234,11509179,15210690,15616584,14612409,12391307,11274368,12584560,12091391,16023596,12149649,15910003,15808510,15780936,7892279,12857727,15502847,9155018,15735755,15084259 1580901,1601453 4609 NM_002467,NG_007161,AC103819,AY214166,CH471060,D10493,J03253,K00535,K01906,L00058,M14206,M20605,X00196,X00364,X00676,BC000141,BC000917,BC058901,BT019768,CR609560,CR618399,K02276,M13929,M13930,X66258,V00568 NP_002458,AAO21131,EAW92098,EAW92099,EAW92100,EAW92101,BAA01374,BAA01375,AAA59887,AAA59880,AAA59881,AAA59882,AAA88090,AAA59886,CAA25015,CAA25105,CAA25106,CAA25288,AAH00141,AAH00917,AAH58901,AAV38573,AAA36340,AAA88092,AAA88094,CAA23831,CAA46984,P01106,Q14901,Q16591,Q6LBK7,ABM85011 Hs.202453 GDB:120208 c-Myc v-myc avian myelocytomatosis viral oncogene homolog 2292709,2292922,2292939,2292941,2292951,2292960,2292989,2293005 PRSTS2_H,PRSTS136_H,PRSTS140_H,PRSTS139_H,PRSTS141_H,PRSTS137_H,PRSTS138_H,PRSTS135_H protein-coding 1315945 MYCBP c-myc binding protein The MYCBP gene encodes a protein that binds to the N-terminal region of MYC (MIM 190080) and stimulates the activation of E box-dependent transcription by MYC.[supplied by OMIM] 1580863 12151104,9797456,17595061,16866877,15489334,12665801,12522145,12477932,12414807,12223483,11483602,16189514 26292 NM_012333,AL139260,CH471059,AB007191,BC008686,BC039090,BC051675,BE502732,BT007109,BU601195,CR456936,CR595258,CR601874,CR608844,CR610721,CR613581,CR616182,CR620174,D50692 NP_036465,CAI23050,EAX07290,EAX07291,EAX07292,BAA22408,AAH08686,AAP35773,CAG33217,BAA09338,Q5TA64,Q6IB68,Q99417,ABM82417,ABM84624,ABM85616 Hs.591506 GDB:11504523 AMY-1 protein-coding 1323830 MYCBP2 MYC binding protein 2 1580863 15489334,15470080,15302935,15257286,15146197,15057823,14702039,14559897,12477932,12168954,11042152,10048485,9689053,15778465,15324660,17353931,17081983 23077 NM_015057,AC001226,AL159154,AL159158,AL359257,CH471093,AA236471,AB020723,AF075587,AF083244,AK000968,AK023888,AK025250,AK025299,AK092651,AL110277,BC037971,BE886946,BI859936,BX473679,BX647202,CN395460,CN395461 NP_055872,EAW80564,EAW80565,EAW80566,EAW80567,BAA74939,AAC39928,AAD39842,BAA91448,CAB53712,AAH37971,O75592,Q9NWD4,Q9UG08 Hs.591221 DKFZp686M08244|FLJ10106|FLJ13826|FLJ21597|FLJ21646|KIAA0916|PAM protein-coding 1345665 MYCBPAP MYCBP associated protein 1580863 12151104,12477932,11230166,17353931,16189514 84073 NM_032133,AC021491,CH471109,AB083068,AK127992,AL136765,AL832225,BC028393,BC036358,BG718526,CR615720 NP_115509,EAW94608,EAW94609,BAB88692,CAB66699,CAH56203,AAH28393,Q658Z8,Q8TBZ2 Hs.398196 AMAP-1|AMAP1|DKFZp434N1415 protein-coding 1346068 MYCL1 v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) 1580863 17145094,16710414,15489334,15269151,15075794,15014029,12883749,12707044,11836605,11802801,11602341,11473723,10229200,8978772,7479755,3322939,3054516,2827002,2548855,16189514,12507230,12477932,12439118,12169206,12034523,11956626,11955646 4610 X07263,BC011864,BC030694,BM967204,CR614411,CR624052,M19720,NM_001033081,NM_001033082,NM_005376,AL033527,AY191718,CH471059,X07262 CAA30248,CAA30249,AAH11864,P12524,Q86YL9,ABZ92166,EAX07250,EAX07251,AAA59878,AAA59879,NP_001028253,NP_001028254,NP_005367,CAI19407,CAI19408,AAO38672 Hs.437922 GDB:120706 LMYC|MYCL protein-coding 1343480 MYCL2 v-myc myelocytomatosis viral oncogene homolog 2 (avian) 1580863 10229200,10100857,7479755,3054516,2827002,2541066,1711681 4611 AC004081,J03069 AAB97938,AAA59883 GDB:120209 pseudo 1354494 MYCL3 v-myc myelocytomatosis viral oncogene homolog 3 (avian) (pseudogene) 10100857 9964 NG_001222,AL080239,Y16968 GDB:9958529 v-myc myelocytomatosis viral oncogene homolog 3 pseudogene (avian) pseudo 1345657 MYCLK1 v-myc myelocytomatosis viral oncogene homolog (avian)-like 1 1612604 4612 M64786 GDB:127346 protein-coding 1344499 MYCN v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. 1580863 10597290,11593398,3796607,18335505,18281664,18198336,18165268,18097563,18059033,18004567,17710228,17704800,17643814,17611020,17554788,17535087,17525631,17506115,17495526,17464317,17327229,17289033,17213019,17172827,17055458,17023822,17020972,16912192,16912187,16596176,16516635,16278682,16166307,15833843,15660126,15644444,15632181,15547663,15489334,15331636,15316056,15314226,15302935,15258910,15218241,15198123,15117961,14737110,14719101,14647433,14645238,12907629,12819037,12808116,12670915,12660036,12569580,12545167,12477932,12438307,12232763,12219017,12192602,12153570,11881792,11861392,11850545,11826111,11602341,10677303,10407192,10229200,9856457,8668343,6728001,6719137,6700732,6575396,3940169,3552210,3510398,3437890,3299258,3008339,2987858,2869488,2834684,2582423,2006410,1695323,1549498,1425701,1419902 4613 NG_007457,AC010145,AJ242956,CH471053,M13228,M13241,M18090,X02363,X03294,X03295,NM_005378,Y00664,AF320053,AI962624,BC002712,BT007384,BU167361,CR599077,CR614612,CR624442,M55330 NP_005369,AAY14952,CAB44703,EAX00885,EAX00886,EAX00887,EAX00888,AAA36370,AAA36371,AAA59885,CAB37871,CAA27037,CAA27038,CAA68677,CAA68678,AAG40001,AAH02712,AAP36048,P04198,Q53XS5,Q7Z7Q9,Q9H224,Q9UMQ5 Hs.25960 GDB:120527 MODED|N-myc|NMYC|ODED protein-coding 1352448 MYCNOS v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) opposite strand The N-myc oncogene has been implicated in the pathogenesis of a number of human tumors, including childhood neuroblastoma and adult small cell lung cancer. Complementary DNA clones derived from a transcription unit, N-cym, located on the opposite DNA strand to N-myc have been characterized. There is extensive overlap between the 5' ends of the two transcription units. The N-cym gene, which can encode a 109-amino acid protein, is expressed during fetal development, as well as in tumor cell lines containing amplified N-myc loci, where it is expressed at very high levels. Although other examples of overlapping, opposite-strand eukaryotic genes exist, N-myc and N-cym are unique in that they appear to be coregulated in tumor cell lines under basal growth conditions and in response to the differentiating agent retinoic acid. This coregulation suggests that their protein products may be functionally interrelated during normal development and oncogenesis. 1580863 1419902,12880964,12477932 10408 P40205,Q53TD4 BC002892,AC010145,S49953 AAY14951,AAB24206,P40205,Q53TD4 Hs.651453 NCYM protein-coding 1350092 MYCP v-myc myelocytomatosis viral oncogene homolog pseudogene (avian) 4614 GDB:118841 1322941 MYCT1 myc target 1 737633 16344560,14702039,14562369,12673574,12477932,8889549 737633 80177 NM_025107,AL390960,CH471051,AA152372,AF527367,AK021612,AK024922,AL834500,BC022556,BC128463,BC128464,CR599312,DA863771 NP_079383,CAI23573,EAW47726,AAM88866,BAB15035,CAD39158,AAH22556,AAI28464,AAI28465,Q8N699 Hs.18160 FLJ21269|MGC156309|MGC156310|MTLC protein-coding 1345144 MYD88 myeloid differentiation primary response gene (88) 1580863 11544529,16286016,16365431,12761501,18325643,18195069,18086890,18070982,17940625,17935950,17920759,17905570,17583698,17548806,17513785,17507480,17507369,17363736,16644730,16517750,16517734,16482509,16424162,16293622,16236719,16203735,16189514,15849357,15845500,15760459,15728506,15665823,15623538,15489334,15361868,15342556,15004556,14702039,14630816,14573621,12885415,12865424,12860405,12724322,12659850,12646618,12531807,12477932,12391239,9374458,10383454,10880445,11960013,11909531,11880380,11854210,11828002,11743586,10952994,10854325,9716450,9344657,9013863,8957090,15107846 4615 NM_002468,AP006309,CH471055,AK097983,AK124685,AL832906,BC013589,BP242808,BP339466,BT007376,BX537602,CR619528,U70451,U84408 NP_002459,EAW64520,EAW64521,BAC05209,AAH13589,AAP36040,AAB49967,AAC50954,Q53XS7,Q8N1J2,Q99836 Hs.82116 GDB:5885844 protein-coding 1315223 MYEF2 myelin expression factor 2 1580863 2601707,15489334,14702039,12477932,10718198 50804 NM_016132,BC068523,AC066612,AC090526,CH471082,AB037762,AF106685,AF190159,AK002075,AK023133,BC131786,BC152420,BC152451,BX647197,CR596492,BC014533 AAH14533,AAH68523,NP_057216,EAW77337,EAW77338,EAW77339,EAW77340,EAW77341,EAW77342,BAA92579,AAD43038,AAQ13703,BAA92070,BAB14421,AAI52421,AAI52452,Q9P2K5,Q9Y655 Hs.6638 FLJ11213|HsT18564|KIAA1341|MEF-2|MGC87325|MST156|MSTP156 protein-coding 1344425 MYEOV myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas) 17390055,16678123,16552434,16275643,15489334,12477932,12202983,10753852 26579 BM785815,BM809741,BM837864,NM_138768,AP005379,CH471076,AJ223366,AK026148,AK290121,BC011815 AAH11815,Q96EZ4,NP_620123,EAW74740,EAW74741,CAB65726,CAB65727,BAF82810 Hs.523848 GDB:9786130 OCIM protein-coding 1601821 MYEOV2 myeloma overexpressed 2 150678 NM_138336,AC013469,CH471063,AF453951,AF487338,BC033955 NP_612209,AAY14738,EAW71178,AAL41026,AAL96264,Q8WXC6,AAI40453 Hs.293884 protein-coding 1353148 MYETS1 multiple myeloma tumor suppressor 1 373170 1318025 MYF5 myogenic factor 5 1580863 12105204,10930450,10757985,9461343,9242638,8978788,8797820,2385294,2311584,2721498,16614355,15342556,12477932,12204280 4617 X14894,NM_005593,AC025568,CH471054,CS018099,CS025614,U27313,BC069373,BP231293,BT019399,BX089431 CAA33025,P13349,Q5U0P5,Q6ISR9,NP_005584,EAW97368,CAI58664,CAI61684,AAA69824,AAH69373,AAV38206 Hs.178023 GDB:120211 protein-coding 731932 MYF6 myogenic factor 6 (herculin) 1600529,1580863 2311584,16614355,15489334,12477932,12105204,11053684,10757985,9242638,9234731,8978788,1945842 1600529 4618 NM_002469,AC025568,CH471054,BC017834,CR407641,CR541763,X52011 ABM84174,ABM87576,NP_002460,EAW97367,AAH17834,CAG28569,CAG46563,CAA36260,P23409 Hs.35937 GDB:120212 MRF4 myogenic factor 6 protein-coding 1350148 MYH1 myosin, heavy chain 1, skeletal muscle, adult Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. 1580863 16292541,15932553,15489334,15121898,15034862,12477932,11971910,11018701,10909963,10388558,10077619,7545970,6304733,2421254,1465443,17949294,17674103,17524638,17368238,17252231,17196619,16929514,16492921,16344560 4619 AC005323,CH471108,CS025608,AF111785,AJ573764,BC022376,BC114545,DA826478,X03740,NM_005963 NP_005954,EAW90005,CAI61681,AAD29951,AAH22376,AAI14546,CAA27380,P12882,Q6PJ55 Hs.440895 GDB:119442 MGC133384|MYHSA1|MYHa|MyHC-2X/D myosin, heavy polypeptide 1, skeletal muscle, adult protein-coding 1353980 MYH10 myosin, heavy chain 10, non-muscle 1580863 15845534,7782316,15774463,7699007,11029059,7499478,18182116,17727819,17202408,17081983,17023528,17020881,16611744,16596254,16394101,16257837,15628858,15619008,15496454,12724421,12704189,12477932,10958671,10906735,9405067,8931991,8663598,7916668,7542763,1860190,8424456,14594945,17353931 4628 NM_005964,AC011061,AC025518,AC026130,CH471108,U51039,AB210026,AF086505,AK026977,BC000280,BC008968,BC117690,BC117691,BC150634,BE799557,BG421687,BU173337,CR602815,M69181,S67247,U15618,U34304 NP_005955,EAW90046,EAW90047,EAW90048,EAW90049,EAW90050,AAC50620,BAE06108,AAH00280,AAH08968,AAI17691,AAI17692,AAI50635,AAA99177,AAB28952,AAA87712,AAA84880,P35580,Q149N3,Q149N4,Q15753,Q4LE45,Q6PK16,Q9BWG0,Q9UE82,Q9UMG3 Hs.16355 GDB:127350 MGC134913|MGC134914|NMMHCB myosin, heavy polypeptide 10, non-muscle protein-coding 737424 MYH11 myosin, heavy chain 11, smooth muscle The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863,1580903 16504290,16502584,16444274,18391202,17956658,17666408,17571080,17287858,17081065,16767164,16000639,15968309,15585652,14702039,12477932,12239155,11439001,10998642,10906735,10850529,10493829,10048485,9715271,9628874,8276405,8219185,7916668,7684189,8424456 1580903 4629 NM_002474,NM_022844,NM_001040114,NM_001040113,AC024120,AC026401,AC130651,AF001548,CH471226,U91323,AA552189,AB020673,AF013570,AF020091,AK125033,AY520816,AY520817,BC031040,BC080545,BC101677,BC104906,BX489788,BX641087,CR749516,D10667,EU489063,S67238,S67240,X69292 NP_002465,NP_074035,NP_001035203,NP_001035202,AAC31665,EAW53924,EAW53925,EAW53926,EAW53927,EAW53928,EAW53929,EAW53930,AAC35212,BAA74889,AAB69326,AAB69327,AAS98910,AAS98911,AAH31040,AAH80545,AAI01678,AAI04907,CAH18331,ACB05996,AAB28950,AAB28951,CAA49154,O14729,O14794,P35749,Q16085,Q16086,Q3MIV8,Q3MNF0,Q3MNF1,Q4G140,Q66K75,Q68D89,Q7Z7R0,BAA36971 Hs.460109 GDB:128123 AAT4|DKFZp686D10126|DKFZp686D19237|FAA4|FLJ35232|MGC126726|MGC32963|SMHC|SMMHC myosin heavy chain 11 protein-coding 737050 MYH13 myosin, heavy chain 13, skeletal muscle 69899,1580863 8424456,9806854,10388558,15231747,12110653,10077619 69899 8735 NM_003802,AC005291,AF075248,AF149209,CH471108,AF111782 NP_003793,AAC83241,AAF73155,EAW90010,AAD29948,Q9P0U8,Q9UKX3,AAI56337,AAI57122 Hs.440895 GDB:9956774 MyHC-eo protein-coding 1315652 MYH14 myosin, heavy chain 14 This gene encodes a member of the myosin superfamily. Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863,1600531 18471249,16713569,15845534,15498874,15489334,15015131,14702039,14594953,12909352,12477932,11919279,11752456,8022818,7655461,8424456,14743216 1600531 79784 NM_024729,AC008655,AC010515,AC020906,CH471135,AB111886,AB290169,AK023943,AK091982,AK122704,AK125082,AV661825,AY165122,AY203926,BC000676,BC004396,BC007877,BC018933,NM_001077186,BC129803,CR936653,L29142 NP_001070654,NP_079005,EAW71838,EAW71839,EAW71840,EAW71841,EAW71842,EAW71843,BAC98374,BAG06723,BAB14735,AAO39147,AAP34449,AAH00676,AAH04396,AAH07877,AAH18933,AAI29804,CAI56791,AAA20905,Q14780,Q7Z406 Hs.467142 DFNA4|DKFZp667A1311|FLJ13881|FLJ43092|FP17425|KIAA2034|MHC16|NMHC-II-C|myosin myosin, heavy polypeptide 14 protein-coding 1348086 MYH15 myosin, heavy chain 15 1580863 18073581,17081983,15042088,15014174,14702039,11919279,10231032 22989 NM_014981,AC069499,AC135308,CH471052,AB023217,AK055436,AK126801 NP_055796,EAW79726,BAA76844,Q9Y2K3 Hs.654876 myosin, heavy polypeptide 15 protein-coding 1344807 MYH16 myosin, heavy chain 16 pseudogene The MYH16 gene, encoding a sarcomeric myosin heavy chain expressed in nonhuman primate masticatory muscles, is inactivated in humans. Stedman et al. (2004) [PubMed 15042088] hypothesized that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man.[supplied by OMIM] 1580863 15470226,15042088,15014174,11919279 84176 NR_002147,AC004834,BK001410,CH236956,AK025690 BAB15219 Hs.621401 FLJ22037|MHC20|MYH16P|MYH5 myosin, heavy chain 16 pseudo 1347033 MYH2 myosin, heavy chain 2, skeletal muscle, adult 1580863,1600532 10388558,3904738,17005402,16344560,15741996,15496418,15489334,12756252,12477932,12235157,11897493,11889243,11114175,10579056,10077619,9730972,7751403,7545970,2877813,17353931 1600532 4620 NM_017534,NM_001100112,AC005323,CH471108,CS025604,AF111784,BC093082,BC126409,BX510904,DA765261,DC379233,S73840,Z32858 NP_060004,NP_001093582,EAW90003,CAI61679,AAD29950,AAH93082,AAI26410,CAD91136,AAC13916,CAA83687,Q567P6,Q86T56,Q9UKX2 Hs.440895 GDB:120213 MYH2A|MYHSA2|MYHas8|MyHC-2A|MyHC-IIa myosin, heavy polypeptide 2, skeletal muscle, adult protein-coding 731491 MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 1580863 2726495,1691980,2771643,16642020,16579921,16368877,15342556,15203218,2806546 4621 NM_002470,AC002347,CH471108,AY517555,BP232093,BP232245,BP232269,BP233139,BP370003,BQ956249,BY796597,CD614924,X13100,X13988,X15696,X51593 NP_002461,EAW89999,EAW90000,AAT44528,CAA31492,CAA32167,CAA33731,CAA35942,P11055,Q5GJ67 Hs.440895 GDB:119443 HEMHC|MYHC-EMB|MYHSE1|SMHCE protein-coding 1323747 MYH4 myosin, heavy chain 4, skeletal muscle 1580863 10388558,3904738,14640694,11543711,10077619,9405067,8518795,7751402,17353931 4622 NM_017533,AC005323,CS025606,AF111783 NP_060003,CAI61680,AAD29949,Q9Y623,AAI56395,AAI57121 Hs.440895 GDB:119444 MYH2B|MyHC-2B|MyHC-IIb protein-coding 1348773 MYH5 myosin, heavy polypeptide 5 4623 GDB:1220227 737147 MYH6 myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) 1580905,1580922,1580923,1580863,1600533 11512664,9410916,8307559,3037493,2969919,2726733,2494889,2144212,2062315,1975475,1930170,1776652,8424456,16088376,15621050,15735645,15998695,11815426,12933792,16344560,12477932 1580905,1580922,1580923,1600533 4624 AF056928,BC117511,BC132667,D00943,DA566231,M21664,X56181,NM_002471,AL049829,CH471078,M25140,M25142,Z20656 AAC13489,AAI17512,AAI32668,BAA00791,AAA36344,CAA39642,O60661,P13533,Q9UQV1,CAA79675,NP_002462,EAW66154,EAW66155,AAA60386,AAA60387 Hs.278432 GDB:120214 ASD3|MYHC|MYHCA|alpha-MHC myosin heavy chain, polypeptide 6 protein-coding 736718 MYH7 myosin, heavy chain 7, cardiac muscle, beta Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. 1580924,1580925,1580926,1580927,1580928,1580929,1580930,1580931,1556469,1580863 16088376,15621050,3021460,15856146,8514894,12933792,18403758,18383048,17956225,17703256,17612745,17588755,17434305,17336526,17165166,17145772,17118657,17095604,17019812,16754800,16344560,16332199,16199542,16087648,15940186,15858117,15769782,15735645,15699387,15563892,15556047,15489334,15358028,15322983,15136674,15000344,14663035,14520662,12974739,12951062,12820698,12818575,12707239,12590187,12566107,12477932,12473556,12379228,12084606,12081993,11968089,11861413,11815426,11733062,11549319,11424919,11214007,11133230,11113006,11106718,10996847,10862102,10679957,10579056,10563488,10521296,10424815,10329202,9829907,9822100,9544842,8655135,8533830,8483915,8435239,8343162,8307559,8282798,8268932,8254035,8253797,8250038,7909436,7874131,7848441,7847377,7731997,7581410,3037493,3032769,2969919,2726733,2522082,2494889,2421254,2362820,2249844,2249479,2045411,1975517,1776652,1691980,1638703,1634614,1569941,1552912,1446073,1417858,1301151,1301139,8424456,17353931 1580924,1580925,1580926,1580927,1580928,1580929,1580930,1580931,1556469 4625 M21665,M58018,X03741,X05631,X06976,X51591,NG_007884,AJ238393,AL132855,CH471078,NM_000257,EF179180,M25135,M25139,M27636,M57965,X04627,X04633,X52889,AB209708,AJ710171,AY518538,BC112171,BC112173,DA823104,DQ248310,EF560725,M17712 AAA36343,AAA36345,AAA62830,CAA27381,CAA29119,CAA30039,CAA35940,P12883,Q14905,Q2XUS2,Q59EV3,Q5GJ54,Q9UDA2,NP_000248,CAC20413,EAW66151,EAW66152,EAW66153,ABN05283,AAA60384,AAA60385,AAA79019,AAA51837,CAA28300,CAA37068,BAD92945,AAT44534,AAI12172,AAI12174,ABB55265,ABQ59035 Hs.678918 GDB:120215 CMD1S|CMH1|DKFZp451F047|MGC138376|MGC138378|MPD1|MYHCB|SPMD|SPMM myosin heavy chain, polypeptide 7 protein-coding 1317507 MYH7B myosin, heavy chain 7B, cardiac muscle, beta 15014174,14702039,12477932,11919279,10819331 57644 AL132825,AL133324,CH471077,AB040945,AK000947,AY288964,BC007808,BC069327,NM_020884,BC069406,BC151242 NP_065935,CAI43040,CAI43041,CAI43042,CAI43043,CAI43044,CAI43047,CAI19310,EAW76236,EAW76237,EAW76238,BAA96036,BAA91440,AAQ93060,AAH07808,AAH69327,AAH69406,AAI51243,Q5JVW7,Q6WG75,Q96I57,Q9NWE2,Q9P216 Hs.710345 GDB:11506306 MGC96928|MGC96940|MHC14|MYH14 myosin, heavy polypeptide 7b, cardiac muscle, beta protein-coding 1345305 MYH8 myosin, heavy chain 8, skeletal muscle, perinatal 1600548,1580863 2715179,18049072,17041932,16344560,15282353,8518795,7601129,2373371,2045411,1691980 1600548 4626 NM_002472,AC005291,AC005323,AF067143,CH471108,DB142109,M36769,X51592,Z38133 NP_002463,AAC21557,EAW90008,EAW90009,AAC17185,CAA35941,CAA86293,P13535 Hs.700484 GDB:125267 MyHC-peri|MyHC-pn myosin, heavy polypeptide 8, skeletal muscle, perinatal protein-coding 732401 MYH9 myosin, heavy chain 9, non-muscle 1580863,1600553 15065866,15845534,12237319,14508515,16403913,17353931,15869600,15774463,10822899,12421915,16186248,1912569,11029059,7699007,15064761,14706930,18394644,18332220,18195072,18192507,18059020,17901043,17875677,17645784,17567956,17488351,17337617,17327270,17310241,17241369,17081983,17020881,16964243,16806139,16596254,16567366,16162639,16094384,16083285,15865432,15749830,15635413,15555549,15479433,15477207,15461802,15289939,12800156,12792306,12705885,12649151,12621333,12577067,12533692,12500226,12477932,12217806,11943476,11935325,11918549,11776386,11752022,11590545,11159552,11093280,11071640,11023810,10973260,10973259,10914687,10862698,10672519,10591208,9529381,9405067,9390828,8063857,8022818,7588733,6448079,1967836,1860190,1752022,603622,352343,8424456,14594945,16189514 1600553 4627 NM_002473,CH471095,CR383703,DQ304679,Z82215,AB191263,AB290175,AK025219,AK025393,AK131080,AK291609,AL832639,BC011915,BC049849,BC090921,BC111387,CD614930,CR456526,D11393,L29141,M31013,M69180,M81105 NP_002464,EAW60096,EAW60097,EAW60098,ABC25483,CAB05105,BAD52439,BAG06729,BAC85130,BAF84298,CAD89954,AAH49849,AAH90921,CAG30412,BAA01989,AAA20904,AAA36349,AAA61765,AAA59888,P35579,Q2PS10,Q5BKV1,Q60FE2,Q6ZNL4,Q86T83,Q86XU5,Q99529,Q9UMJ0,AAI50170,AAI50171,CAK54557,CAK54856 Hs.474751 GDB:120216 DFNA17|EPSTS|FTNS|MGC104539|MHA|NMHC-II-A|NMMHCA myosin, heavy polypeptide 9 protein-coding 1353391 MYHK myosin, heavy polypeptide kinase 4630 GDB:596318 733783 MYL1 myosin, light chain 1, alkali; skeletal, fast Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. 1580863 3904738,16344560,15489334,12477932,11707283,11071908,10998640,3601661,3422212,2777779,2458299,2304459,16189514 4632 NM_079420,NM_079422,AC021150,AC097525,CH471063,J05026,J05027,AA705167,BC005318,CR456869,CR598137,DA898482,M20643,X05451 Q53SD2,NP_524144,NP_524146,AAY14720,AAY24177,EAW70483,EAW70484,EAW70485,AAA66960,AAA66968,AAH05318,CAG33150,AAA59855,CAA29020,P05976,P06741,Q53R15 Hs.187338 GDB:120217 MLC1F|MLC3F protein-coding 737270 MYL2 myosin, light chain 2, regulatory, cardiac, slow MYL2 encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in MYL2 are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. 1580240,1580241,1580863 9180271,11102452,8287067,16555005,8673105,15824735,16754800,17244674,16199542,15967462,15489334,14756420,12818575,12707239,12477932,12404107,12185584,11891719,11773029,11748309,10047984,9535554,7498159,2704627,1386340,16189514,11399775 1580240,1580241 4633 AF020768,BC015821,BC031006,BC031008,BX538165,CR456962,CR541957,M22815,S69022,X14332,X57542,X66141,AC002351,NM_000432,CH471054 EAW97944,EAW97945,AAB91993,AAH15821,AAH31006,AAH31008,CAG33243,CAG46755,AAA91832,AAB29658,CAA32510,CAA40761,CAA46931,P10916,EAW97943,Q14908,Q6IB42,Q7Z3Z1,ABM83734,ABM87054,NP_000423 Hs.75535 GDB:128829 CMH10|DKFZp779C0562|MLC2 myosin, light polypeptide 2 protein-coding 736456 MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. 1580241,1580863 16675844,2789520,8673105,16754800,17717642,16199542,15489334,15342556,14516912,12707239,12477932,12404107,12186978,12021217,11748309,9990131,9614495,7498159,3979397,3417683,3357795,2784124,2536191,1479618 1580241 4634 NM_000258,AC109583,CH471055,M24247,M76408,AF174483,AJ709328,BC009790,BP316922,M24122,X07373 NP_000249,EAW64791,EAW64792,AAA59851,AAA59894,AAF91089,AAH09790,AAA59895,CAA30292,P08590,Q14909 Hs.517939 GDB:120218 CMH8|MLC1SB|MLC1V|VLC1 protein-coding 1350723 MYL4 myosin, light chain 4, alkali; atrial, embryonic Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 9738905,9180271,16675844,14985854,2308163,16381901,16106982,15489336,15489334,12477932,11557734,11076863,10494800,10373429,9000508,6879193,3417683,2849544,2458299,2129532,2027757 4635 M37074,X58851,X58854,X58855,BC030228,BU658678,H83803,M20641,M24121,M36172,X13955,X52005,NM_001002841,NM_002476,AC068234,AC087649,CH471231 AAA59858,CAA41655,AAH30228,AAA59856,AAA59891,AAA36319,CAA32137,CAA36256,P12829,Q03399,Q0JUN1,CAL37401,CAL37414,CAL37780,CAL38519,EAW57685,NP_001002841,NP_002467,EAW57683,EAW57684,CAL38553 Hs.463300 GDB:120219 ALC1|AMLC|GT1|PRO1957 myosin, light polypeptide 4, alkali; atrial, embryonic protein-coding 1354290 MYL5 myosin, light chain 5, regulatory This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. 1580863 1284596,14702039,12477932,10722873 4636 NM_002477,AC107464,AK123974,AK125529,BC040050,L03785 NP_002468,BAC85739,AAH40050,AAA59890,Q02045,Q6ZVX1 Hs.410970 GDB:132923 protein-coding 1313756 MYL6 myosin, light chain 6, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. 2304459,16953301,16189514,15489334,15146197,12477932,11436981,8856505,8188229,2722814,14743216 4637 N84459,U02629,M31212,NM_021019,NM_079423,AC034102,AC073896,CH471054,AB046613,BC006781,M22919,BC017455,BC071661,BC093066,CN401857,CR456839,CR457014,CR591507,CR592135,CR594305,CR598874,CR600357,CR601266,CR605329,CR605452,CR620884,CR621220,CR625614,CR626743,M22918,M22920 AAA59853,AAA20643,P60660,Q561V9,Q6IBG5,NP_066299,NP_524147,EAW96899,EAW96900,EAW96901,EAW96902,EAW96903,EAW96904,AAA59892,EAW96905,AAA59893,BAB62402,AAH06781,AAH17455,AAH71661,AAH93066,CAG33120,CAG33295,AAA36347,AAA36348 Hs.632717 GDB:344773 ESMLC|LC17-GI|LC17-NM|LC17A|LC17B|MLC1SM|MLC3NM|MLC3SM myosin, light polypeptide 6, alkali, smooth muscle and non-muscle protein-coding 1606964 MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. 2304459,15510214,2458299,15489334,12477932,8856505,2602161 140465 BC014400,BU166567,CR604010,CR625668,M31211,X16434,NM_002475,AC034102,CH471054,AI349553,BC012425 AAH14400,AAA36320,CAA34457,P14649,ABM82232,ABM85417,NP_002466,EAW96894,EAW96895,EAW96896,EAW96897,EAW96898,AAH12425 Hs.632731 MLC1SA protein-coding 1352827 MYL6P myosin, light chain 6, pseudogene 10830953 54043 NG_000917,AP001053,AP001752 GDB:10796376 myosin, light polypeptide 6, pseudogene pseudo 1317934 MYL7 myosin, light chain 7, regulatory 1580934,1580863 15621049,1429676,15489334,12847096,12757876,12477932,12083776,8207020,15735645 1580934 58498 BC027915,M94547,W17098,NM_021223,AC006454,CH236960,CH471128 EAW61117,AAH27915,AAA59889,Q01449,NP_067046 Hs.75636 MYL2A|MYLC2A protein-coding 1350404 MYL8P myosin, light chain 8, pseudogene 1300397 9545376,9521053 1300397 442204 AL662820,AL662827,Z97183 GDB:10796810 BING3 pseudo 1322585 MYL9 myosin, light chain 9, regulatory Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. 1582589,1580863 2526655,16076902,14702039,12477932,11942626,11780052 1582589 10398 NM_006097,NM_181526,AL050318,CH471077,AF176042,AF176043,AK097235,AK130879,BC002648,BQ953325,CR456843,CR602511,CR603140,CR603972,CR622560,D82057,J02854,CR608537 NP_006088,NP_852667,CAB75369,CAC34440,EAW76129,EAW76130,EAW76131,EAW76132,EAW76133,EAW76134,AAQ13653,AAQ13654,AAH02648,CAG33124,BAB88917,AAA59852,P24844,Q6IBG1,Q71U02,Q9BQL9,Q9BUF9 Hs.504687 GDB:9956508 LC20|MGC3505|MLC2|MRLC1|MYRL2 protein-coding 1603931 MYLC2PL myosin light chain 2, precursor lymphocyte-specific 11256614,16381901,15489336,12477932,11076863,1628631 93408 NM_138403,AC004953,CH471197,BC002778 NP_612412,EAW50225,EAW50226,AAH02778,Q9BUA6,CAL38725 Hs.247831 PLRLC protein-coding 1313988 MYLIP myosin regulatory light chain interacting protein The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. 1580863 10593918,14550572,16785530,15498874,15489334,12826659,12477932,11162443,11042152,16189514 29116 NM_013262,AF006004,AL021407,CH471087,AF006003,AF187016,AF212221,AF258586,AJ420601,AK026739,AK074391,BC002860,BT007055 NP_037394,AAQ13409,CAI19547,CAI19548,EAW55366,EAW55367,AAQ13408,AAF18974,AAF87323,AAG23789,AAH02860,AAP35704,Q5TIA4,Q5TIA5,Q8WY64,ABW03635 Hs.484738 MIR protein-coding 1322095 MYLK myosin light chain kinase This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. 1581052,1580863 8575746,17472811,17266121,17244674,16835238,16399953,15817725,15507455,15087444,15056655,15020676,14741352,14702039,12477932,12460991,12408982,12110694,12107410,11976941,11481347,11306802,11113114,11096123,11062269,10748018,10536370,10402467,10362724,10198165,10092231,10036190,9806740,9160829,8889548,8294496,7947686,6547441,3160694,3079756,2160950 1581052 4638 NM_053028,NM_053026,NM_053027,DQ642691,DQ642692,U48959,X85337,X90870,Y09530,AF096774,NM_053025,NM_053032,NM_053031,AC020634,AC023165,AC117381,AF096769,AF096770,AF096771,CH471052,AB037663,AF069601,AF069602,AF069603,AF069604,AF096773,AF096775,AF172084,AK022278,AK025953,AK127437,AL832211,AY339601,AY424269,AY424270,BC017811,BC034911,BC040115,BC062755,BC064420,BC064695,BC100761,BC100762,BC100763,BC107783,BC113456,BC113458,BM723621,BU678390,CA391484,CA391924,CA432076,CR749364 NP_444256,NP_444254,ABG25912,ABG25913,AAC18423,CAA59685,CAA62378,CAA70723,Q05B97,Q05B98,Q05D81,Q06S79,Q15746,Q17S15,Q3B765,Q3ZCP9,Q68DK3,Q6LAL4,Q6P2N0,Q6ZNP1,Q7Z4F4,Q9UBY6,CAH18217,NP_444255,NP_444253,NP_444260,NP_444259,AAD51380,AAD51381,EAW79435,EAW79436,EAW79437,EAW79438,EAW79439,EAW79440,EAW79441,EAW79442,EAW79443,EAW79444,EAW79445,EAW79446,BAB21504,AAD15921,AAD15922,AAD15923,AAD15924,AAD54017,AAD54018,AAD54019,AAQ13607,AAQ02673,AAR29061,AAR29062,AAH17811,AAH64420,AAI00762,AAI00763,AAI00764,AAI07784,AAI13457,AAI13459 Hs.556600 GDB:596317 DKFZp686I10125|FLJ12216|KRP|MLCK|MLCK1|MLCK108|MLCK210|MSTP083|MYLK1|smMLCK myosin, light polypeptide kinase protein-coding 737455 MYLK2 myosin light chain kinase 2 This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. 1580243,1580244,1580863 16448786,15489334,14500714,12477932,11780052,11733062,10198165,9147985,8681137,2839493 1580243,1580244 85366 NM_033118,AL160175,CH471077,AF325549,AJ272502,BC007753,BC069627,BC092413,BC127622,BX647635,F22840 NP_149109,CAC10006,EAW76414,EAW76415,EAW76416,EAW76417,AAK15494,CAC81354,AAH07753,AAH69627,AAH92413,AAI27623,Q5QP58,Q9H1R3 Hs.86092 GDB:11504427 KMLC|MLCK|MLCK2|skMLCK protein-coding 1604762 MYLK3 myosin light chain kinase 3 17885681,16723733,16344560,16306123,16284075,15825080,15681825,15507455,15489334,12477932 91807 NM_182493,AC007225,CH471092,AJ247087,AL691746,BC039103,BC109096,BC109097,CR739116,DA561361 NP_872299,EAW82687,CAC42766,AAI09098,Q32MK0 Hs.130465 MGC126319|MGC126320|MLCK|MLCK2|caMLCK protein-coding 1604705 MYLK4 myosin light chain kinase family, member 4 14702039,14574404,12477932,12471243 340156 NM_001012418,AL138876,AL139092,CH471087,AK090753,AK096893,AK122581,AK127360,BC132831,BC132833,BX647582 NP_001012418,CAI12221,EAW55083,EAW55084,BAC56922,AAI32832,AAI32834,Q86YV6 Hs.127830 SgK085 protein-coding 1346625 MYLKP myosin light chain kinase pseudogene 10036190 9430 AF042089 GDB:9956674 myosin, light chain kinase pseudogene pseudo 1350870 MYLL1 myosin, light polypeptide, cardiac muscle-like 1 4639 GDB:120220 1603646 MYLPF fast skeletal myosin light chain 2 6091059,6179945,15489334,14756420,12477932 29895 NM_013292,AC127457,CH471192,AF363061,BC012571,BX649054,CR456963,M21812,X57543 NP_037424,EAW52254,EAW52255,AAK52797,AAH12571,CAG33244,AAA91848,CAA40762,Q96A32 Hs.50889 DKFZp779C0757|MGC13450|MRLC2 protein-coding 1354007 MYMY1 moyamoya disease 1 9973290 50960 1345006 MYMY2 moyamoya disease 2 10754001 260295 1347577 MYMY3 moyamoya disease 3 15362573 493818 1317346 MYNN myoneurin 10873615,15489334,14702039,14694499,12477932 55892 NM_018657,AB079779,AC078795,AC078802,AY286322,AY286328,CH471052,AB079777,AB079778,AF076249,AF148848,AF155508,AK021646,AK092022,AL133070,AY514901,AY515691,AY515692,AY541760,AY541761,BC020610,BC033620,BX648128,CR616419 NP_061127,BAC55900,AAP44763,AAP44764,EAW78544,EAW78545,EAW78546,BAC55898,BAC55899,AAF80160,AAF73138,AAF74822,BAB13862,CAB61393,AAR99055,AAS38566,AAS38567,AAS87376,AAS87377,AAH20610,AAH33620,CAI46035,Q05CW1,Q9NPC7,ABM82522,ABM85716 Hs.507025 GDB:11508706 OSZF|SBBIZ1|ZBTB31 protein-coding 1316238 MYO10 myosin X 1580863 18295593,17081983,16894163,16371656,16344560,15158464,15156152,14760703,14702039,12477932,12055636,11278607,10984435,10610710,9872452,8884266 4651 NM_012334,AC010310,AC010607,AC024588,CH471102,AB018342,AF132021,AF132022,AF184153,AF234532,AF247457,AI086647,AK001501,AK024719,AK025921,AK074717,AK125246,AL832428,BC014956,BC032669,BC041694,BC050682,BC071965,BC094838,BC108736,BC150285,DA504301,CA488271 NP_036466,EAX08016,EAX08017,EAX08018,BAA34519,AAF36524,AAF36525,AAF17363,AAF37875,AAF68025,BAC11158,CAH10611,AAH41694,AAH50682,AAH71965,AAH94838,AAI08737,AAI50286,Q69YP8,Q6IPD7,Q8IVX5,Q8NCI3,Q9HD67 Hs.481720 GDB:1391801 FLJ10639|FLJ21066|FLJ22268|FLJ43256|KIAA0799|MGC131988 protein-coding 1343693 MYO15A myosin XVA This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. 1580863,1600554 10552926,17853461,17546645,11997338,11735029,11583965,10915760,9603736,7704031,12114748 1600554 51168 NM_016239,AC087164,CH471196,AB209423,AF144094,AL713794,BX538062 NP_057323,EAW55663,EAW55664,EAW55665,EAW55666,EAW55667,BAD92660,AAF05903,CAD28548,CAD97993,Q59FN7,Q7Z382,Q8TCK0,Q9UKN7 Hs.462390 GDB:9838006 DFNB3|DKFZp686N18198|MYO15 protein-coding 1345573 MYO15B myosin XVB pseudogene 1580863 14702039,12477932,11964073,11347906,11294886,16189514 80022 BC027875,BC033247,BC128044,BK000056,AC087749,CQ783956,AB058686,AF418286,AF418287,AF418288,AF418289,AF418290,AF418291,AF418292,AF418293,AK025259,AK026339,AK074680,AK096869,AK097896,AK126458,AL713730,NR_003587 CAD28520,AAH27875,Q8N374,Q8NCK2,Q8TCJ6,Q9H614,CAF86943,BAB47412,BAB15453,BAC11134 Hs.390817 GDB:11500608 FLJ21606|FLJ22686|FLJ40577|FLJ44494|MYO15BP myosin xvb, pseudogene pseudo 1604637 MYO16 myosin XVI 11588169,17029291,14702039,12477932,12421765,10048485,8889548 23026 NM_015011,AL136132,AL157771,AL161431,AL353143,AL390918,AL512648,AB020672,AB290159,AI692718,AK095691,AK127806,AL834447,BC146791,BM723424 NP_055826,CAH70519,CAH70520,CAH70521,CAI16366,CAI16367,CAI15548,CAH73221,CAH73222,CAH73223,CAI15821,CAI15822,CAI15823,BAA74888,BAG06713,BAC04608,BAC87143,CAD39107,AAI46792,Q9Y6X6 Hs.656587 KIAA0865|MYR8|Myo16b protein-coding 1605490 MYO18A myosin XVIIIA 9918798,17081983,16713569,16087679,16083285,15835906,15491607,15489334,15302935,14702039,12761286,12477932,10733938,9039502,8663107 399687 NM_203318,NM_078471,AC005412,AC024619,CH471159,AB177858,AB177860,AF252258,AK122870,AY703984,BC039612,BM544214,CR615876,CR933614,D86970 NP_976063,NP_510880,EAW51177,EAW51179,EAW51183,BAD66836,BAD66838,AAF70181,AAV80770,AAH39612,CAI45931,BAA13206,Q5QD01,Q92614,Q9NYE8 Hs.708160 DKFZp686L0243|KIAA0216|MYSPDZ|SPR210 protein-coding 1349934 MYO18B myosin XVIIIB The protein encoded by this gene may regulate muscle-specific genes when in the nucleus and may influence intracellular trafficking when in the cytoplasm. The encoded protein functions as a homodimer and may interact with F actin. Mutations in this gene are associated with lung cancer. 1580863 12547197,17294804,17081983,16499872,15305387,14702039,12741677,12209013,10591208 84700 NM_032608,AJ310932,AL022329,AL079300,AL080245,CH471095,Z98949,AB042648,AB075376,AJ271918,AJ310931,AK095943,AK123936,AL833890,AY077700,BC150626,CR749556 NP_115997,CAC70714,EAW59702,EAW59703,EAW59704,EAW59705,EAW59706,EAW59707,EAW59708,BAB55550,BAC16363,CAC81082,CAC70712,BAC04656,CAD38746,AAL75811,AAI50627,CAH18353,Q5TF64,Q68D67,Q8IUG5,Q8N903 Hs.417959 GDB:11506308 DKFZp434C2422|DKFZp779C1668|FLJ41942 protein-coding 1352895 MYO19 myosin XIX 737633,1580863 17877792,12477932 737633 80179 NM_025109,NM_001033580,AC126327,CH471199,AB209035,AK026518,AY545559,BC008900,BC036325,BM921100,BU543266,CD656712,AL133017 NP_079385,NP_001028752,EAW57556,EAW57557,EAW57558,EAW57559,EAW57560,EAW57561,BAD92272,BAB15495,AAS50154,AAH08900,Q96H55 Hs.302051 FLJ22865|MYOHD1 protein-coding 1345169 MYO1A myosin IA The protein encoded by this gene belongs to the myosin superfamily. Myosins are molecular motors that, upon interaction with actin filaments, utilize energy from ATP hydrolysis to generate mechanical force. Each myosin has a conserved N-terminal motor domain that contains both ATP-binding and actin-binding sequences. Following the motor domain is a light-chain-binding 'neck' region containing 1-6 copies of a repeat element, the IQ motif, that serves as a binding site for calmodulin or other members of the EF-hand superfamily of calcium-binding proteins. At the C-terminus, each myosin class has a distinct tail domain that serves in dimerization, membrane binding, protein binding, and/or enzymatic activities and targets each myosin to its particular subcellular location. The kidney epithelial cell line, LLC-PK1-CL4 (CL4), forms a well ordered brush border (BB) on its apical surface. Experiments indicate that the brush border population of the encoded protein turns over rapidly, while its head and tail domains interact transiently with the core actin and plasma membrane, respectively. A rapidly exchanging pool of the protein encoded by this gene envelops an actin core bundle that, by comparison, is static in structure. 1580863,1600218 12812986,8022818,2606897,12736868,8692943,9858156,17981900,16936815,15489334,12596055,12477932,11916846,11474115,10653589,8884266 1600218 4640 NM_005379,AC026120,CH471054,AF009961,AF105424,AF127026,BC059387,L29137 NP_005370,EAW96981,EAW96982,EAW96983,AAC27437,AAC78645,AAD31189,AAH59387,AAA20900,Q13871,Q9UBC5 Hs.5394 GDB:1220237 BBMI|DFNA48|MIHC|MYHL protein-coding 735320 MYO1B myosin IB 1580863 16219689,15489334,14702039,12486594,12477932,11509238,8719884,8449985,8022818,17353931 4430 AC068056,AC092614,AC118061,AC133534,CH471058,AB290176,AJ001381,AJ001382,AK000160,AK022489,NM_012223,AK074978,BC021665,BC053558,BC060849,BG563224,BQ650834,CR626763,L29138 NP_036355,EAX10839,EAX10840,EAX10841,EAX10842,EAX10843,EAX10844,EAX10845,BAG06730,CAA04712,CAA04713,BAB14053,AAH21665,AAH53558,AAA20901,O43795,Q05CR5,Q14777,Q9HA08 Hs.439620 GDB:1220238 myr1 protein-coding 737188 MYO1C myosin IC This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. 1580863 15558034,15342556,15302935,15146197,12477932,11030652,8884266,8719884,17353931,9858156,9119401,17081983,16960872,16957816,16877530,16603771,16344560,16133118 4641 NM_001080779,NM_033375,NM_001080950,AC100748,CH471108,AB210015,AI220881,AK172742,AK292910,BC044891,BC068013,BC127784,BP255642,BP284965,CA422782,CD050346,CN313279,CR625927,DB241937,X98507 NP_001074248,NP_203693,NP_001074419,EAW90619,EAW90620,BAE06097,BAF85599,AAH44891,AAH68013,AAI27785,CAA67131,O00159,Q4LE56,Q86Y95 Hs.286226 GDB:1220239 FLJ23903|MMI-beta|MMIb|NMI|myr2 protein-coding 1349117 MYO1D myosin ID 1580863 17376794,15489334,12477932,9872452,8884266,17353931 4642 AK026907,AK026920,AK127942,BC030602,BC030796,BC146763,BX537615,NM_015194,AC007982,AC025211,AC079336,AC084809,CH471147,AB018270 AAH30602,AAH30796,AAI46764,CAD97800,O94832,Q7Z3N6,Q8N618,NP_056009,EAW80221,EAW80222,EAW80223,EAW80224,EAW80225,BAA34447 Hs.658000 GDB:1220240 KIAA0727|myr4 protein-coding 1350355 MYO1E myosin IE 1580863 7932763,17257598,12477932,11940582,9858156,9367879,8884266,8022818 4643 AC092868,CH471082,AB290177,AK291688,AL707587,BC098392,BQ054624,BX489024,CA429161,CB128582,L29139,U14391,NM_004998,AC092756,AC092757 EAW77564,BAG06731,BAF84377,AAH98392,AAA20902,AAA62667,Q12965,Q4KMR3,NP_004989 Hs.654506 GDB:1220241 HuncM-IC|MGC104638|MYO1C protein-coding 1320254 MYO1F myosin IF 1580863 9119401,17081983,16189514,15489334,14702039,12477932,11804589,8884266,8022818 4542 NM_012335,AC092298,AC092316,AC124902,AC130469,CH471139,U57053,AB210037,AB290178,AJ310570,AK131106,BC028071,CR601457,CR607653,L29140,X98411 NP_036467,EAW68909,EAW68910,EAW68911,EAW68912,AAC50726,BAE06119,BAG06732,CAC83948,BAC85156,AAH28071,AAA20903,CAA67058,O00160,Q14779,Q4LE34,Q6ZNI9,Q92827,ABM82002,ABM82011,ABW03355 Hs.465818 GDB:1220242 protein-coding 1314390 MYO1G myosin IG 14702039,12690205,12477932,11544309 64005 CH236960,CH471128,AB290179,AF380932,AF380933,AK074050,AK074135,AK097912,AK131089,AL832302,BC015693,BC041623,BC063854,BC113544,BC117241,BI910371,CR597530,CR605274,NM_033054,AC004847 EAL23748,EAW61068,EAW61069,EAW61070,EAW61071,EAW61072,BAG06733,AAK58092,AAK58093,BAB84876,BAB84961,BAC85139,AAH15693,AAI13545,AAI17242,Q6ZNK5,Q8TEI9,Q8TES2,Q96BE2,Q96RI5,Q96RI6,NP_149043 Hs.37617 GDB:11501982 HA-2|MGC142104 protein-coding 1350940 MYO1H myosin IH 14702039,11181995 283446 NM_001101421,AC007570,AC012384,CH471054,AK094906 NP_001094891,EAW97858,EAW97859,BAC04454,Q8N1T3 Hs.512008 GDB:11501977 FLJ37587 protein-coding 1349635 MYO3A myosin IIIA The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. 1580863,1600555 12672820,12032315,17021180,18229949,17074769,17012748,15761153,15302935,15203218,15164054,12477932,10936054 1600555 53904 NM_017433,AL162503,AL358612,AL360217,AL391812,CH471072,AF229172,AY101367,BC036079,BC045538,BC119811,BC125272,CD628204,CD628208,CK903348 NP_059129,CAH73661,CAI17380,EAW86105,AAF70861,AAM34500,AAH36079,AAH45538,AAI19812,AAI25273,Q05AG9,Q0VD65,Q5VXI1,Q5VXI2,Q5VXI3,Q86VY5,Q8NEV4,AAI56363 Hs.662630 GDB:10796378 DFNB30 protein-coding 1352249 MYO3B myosin IIIB 15815621,14702039,12631723,11991710 140469 AF391556,AF391557,AF391558,AK055778,BC040019,BX647895,NM_138995,NM_001083615,AC007277,AC012594,AC068280,AC093402,AC114794,CH471058,AF369908,AF391554,AF391555 AAO13801,AAO13802,AAO13803,BAB71011,Q8WXR4,AAO13800,NP_620482,NP_001077084,AAY24324,AAY14892,AAY24159,EAX11243,EAX11244,EAX11245,EAX11246,AAL57233,AAO13799 Hs.671900 GDB:11506310 protein-coding 731453 MYO5A myosin VA (heavy chain 12, myoxin) 1580863,1600819,1600821 10448864,11980908,9852149,10391919,9826529,17898234,17891151,17487986,17029413,16097034,15788565,15772161,15059972,14730011,14702039,12897212,12603861,12531900,12403814,12148598,12147688,12062444,12058346,12006666,11870218,11856727,11432975,10844022,10733681,10704277,10529054,9207796,8188282,8022818,7835087,11148209 1600819,1600821 4644 NM_000259,AC010674,AC018902,AC025917,CH471082,AB209487,AB209505,AB290180,AF055459,AF090424,AF090425,AF090426,AF090427,AF090428,AK090859,AK124898,CR598019,S74799,U90942,Y07759,Z22957 NP_000250,EAW77447,EAW77448,EAW77449,EAW77450,EAW77451,EAW77452,EAW77453,BAD92724,BAD92742,BAF80583,AAC14188,AAC83701,AAC83702,AAC83703,AAC83704,AAC83705,AAB33211,AAD00702,CAA69035,CAA69036,CAA80533,O95317,O95318,Q59FF5,Q9UES3,Q9UES4,Q9UES5,Q9Y4I1,AAI56393 Hs.21213 GDB:218824 GS1|MYH12|MYO5|MYR12 protein-coding 736652 MYO5B myosin VB 1580863 18317468,17462998,16214890,14702039,12477932,11495908,11408590,10574461,8884266,8022818,2236059,15004234,12393859,12421765 4645 NM_001080467,AC090227,AC091044,AC092705,AC105224,AB032945,AB290160,AK025336,AK093149,AL133643,AY274809,BC032511,BC033527,CR592301,L29143 NP_001073936,BAA86433,BAG06714,BAB15114,AAP42074,AAH33527,AAA20906,Q0P656,Q14782,Q7Z7A5,Q9H6Y6,Q9ULV0 Hs.200136 GDB:1220243 KIAA1119 myosin 5b protein-coding 1320640 MYO5C myosin VC 1580863 18201966,12477932,11870218,8022818 55930 NM_018728,AC010674,CH471082,AF161352,AF272390,AK131493,BC064841,L29144 NP_061198,EAW77446,AAF28912,AAF78783,BAD18637,AAH64841,AAA20907,Q14783,Q6P1W8,Q6ZMT8,Q9NQX4,Q9P0E7 Hs.487036 GDB:10796812 MGC74969 protein-coding 1352294 MYO6 myosin VI Myosin VI, one of the so-called unconventional myosins, is an actin-based molecular motor involved in intracellular vesicle and organelle transport (Rock et al., 2001 [PubMed 11707568]; Hasson and Mooseker, 1994 [PubMed 7929586]). Myosin VI participates in 2 steps of endocytic trafficking; it is recruited to both clathrin (see CLTC; MIM 118955)-coated pits and to ensuing uncoated endocytic vesicles (Naccache et al., 2006 [PubMed 16908842]).[supplied by OMIM] 1600556,1580863 9852149,12857860,10519557,11728438,16507995,15247260,16949370,15837803,11468689,9259267,11447109,16948370,8022818,18348273,18029400,17683200,17635994,17187061,17071605,16908842,16499958,16344560,15146066,15123708,15060111,15044955,14702039,14574404,12893809,12687499,12477932,12050163,11967127,11906161,11707568,11517222,9205841,7929586,7493015,17353931 1600556 4646 NM_004999,AF229111,AL109897,AL136093,AL392166,CH471051,AB002387,AK095294,BC012598,BC146764,BX647397,DB088907,L29145,U90236 NP_004990,AAK00229,CAI19520,CAI19521,CAI19522,CAI42823,CAI42824,CAI42825,CAI42826,EAW48728,EAW48729,EAW48730,EAW48731,BAA20843,AAI46765,AAA20908,AAC51654,Q14784,Q9UM54 Hs.149387 GDB:1220244 DFNA22|DFNB37|KIAA0389 protein-coding 732206 MYO7A myosin VIIA This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. 1581470,1580863,737744 15300860,12466270,8622919,7870171,16001398,8842737,18484607,18323324,18181211,17960123,17361009,17093394,16679490,16470552,16449806,16400615,15976448,15965244,15823922,15660226,15606003,15221449,15180257,15121790,12588794,12485990,12477932,12221080,12112664,11964381,11921171,11171103,11162241,11080149,10930322,10889203,10364543,10094549,9843659,9718356,9382091,9354784,9171833,9171832,9070921,9002678,8900236,8884267,8884266,8776602,8599365,8022818,7951250,7568224,1478677 1581470,737744 4647 NM_000260,NM_001127179,NM_001127180,AP000752,AP001855,CH471076,U61421,AB209629,AB290181,BC023212,BC030215,BG108466,L29146,U34227,U39226,U55208,U55209 NP_000251,NP_001120651,NP_001120652,EAW75018,EAW75019,EAW75020,EAW75021,EAW75022,EAW75023,AAC51150,BAD92866,BAG06735,AAA20909,AAC50218,AAB03679,AAC50927,AAC50722,Q13402,Q59F32 Hs.370421 GDB:132543 DFNA11|DFNB2|MYOVIIA|MYU7A|NSRD2|USH1B myosin viia (usher syndrome 1b (autosomal recessive, severe)) protein-coding 1352567 MYO7B myosin VIIB 14702039,12477932,8884266,8022818 4648 NM_001080527,AC010976,AK000145,AK023543,AK074183,BC035615,BC051761,CR600379,CR627350 NP_001073996,BAB85009,AAH35615,CAI45981,Q5HCH8,Q6PIF6 Hs.154578,Hs.677195 GDB:1220245 DKFZp686A08248 protein-coding 732261 MYO9A myosin IXA 1580863 10409426,16344560,16204458,14702039,12477932,8022818 4649 AC020779,AC022872,AC090454,AC104938,CH471082,AB209841,AB290183,AF117888,AJ001714,AK001923,AK023306,AL137287,BC060886,BC140869,NM_006901,BC150294,CB140040,CR596085,DB085692,DQ088983,DQ088984,L29148 NP_008832,EAW77879,EAW77880,BAD93078,BAG06737,AAD49195,CAA04947,BAA91979,BAB14517,CAB70679,AAH60886,AAI40870,AAZ85978,AAZ85979,AAA20911,Q14787,Q3YLD7,Q3YLD8,Q59EH0,Q6P986,Q9H8T5,Q9NTG2,Q9NUY2,Q9UEP3,Q9UNJ2 Hs.546268 GDB:1220246 FLJ11061|FLJ13244|MGC71859 protein-coding 736717 MYO9B myosin IXB 1580863 16338935,9490638,15644318,16616011,11901422,8907710,18361936,18077767,17967566,17948900,17944996,17767555,17667713,17584584,17267307,17176439,17087940,17081983,16948647,16943798,16720215,16423886,16282976,15790807,14702039,14517787,12477932,11801597,10580159,9226381,8022818 4650 NM_004145,AC020908,AC020913,AC092476,CH471106,AB209997,AB290184,AF020267,AF143684,AK002201,AY927576,BC018108,BC061639,BC094864,CR598001,L29149 NP_004136,EAW84572,EAW84573,BAE06079,BAG06734,AAC26597,AAF00119,BAA92132,AAH18108,AAA20912,Q13459,Q14788,Q4LE74,Q8WVD2 Hs.123198 GDB:1220247 CELIAC4|MYR5 unconventional myosin from rat 3 protein-coding 737429 MYOC myocilin, trabecular meshwork inducible glucocorticoid response MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. 1600838,1600840,1600842,1580863 9169133,17317787,18449353,18385784,18334962,18303389,18214788,18195223,17966125,17960117,17893668,17893664,17679945,17663725,17650508,17615537,17605937,17563717,17562996,17516541,17499207,17438518,15161538,15137056,15025728,14767915,14740993,14702039,14688426,14680806,12912696,12872267,12868033,12860809,12851728,12817590,12789574,12782842,12697062,12671463,12671462,12615070,12522550,12504739,12477932,12470758,12447164,12442283,12411077,12362081,12356829,12215093,12190780,12126543,12060848,12019210,11992263,11923248,11910561,11853639,17417611,17417609,17321191,17224759,17210859,17197538,17122126,16902400,16710414,16688110,16681888,16636654,16458712,16431959,16401791,16392033,16374045,16358725,16316624,16289162,16280977,16226543,16198165,16148883,15953455,15944158,15851979,15823921,15795224,15733270,15723004,15652337,15646469,15534471,15489334,15483649,15354075,15342693,15338275,15255110,15194423,11807810,11774072,11773029,11773026,11738824,11595024,11527946,11133859,10990486,10819638,10644174,10330365,10196380,9863594,9792882,9697688,9548973,9535666,9521427,9497363,9490287,9361308,9345106,9328473,9280311,9005853,8749308,8513321,8279471,16189514,9446806 1600838,1600840,1600842 4653 NM_000261,AB006688,AF049793,AY599652,CH471067,Z97171,Z97174,Z98750,AF001620,AK097310,BC029261,D88214,U85257 NP_000252,BAA24532,AAC14264,AAT09137,EAW90903,CAB09899,AAC51725,BAC04997,AAH29261,BAA23531,AAC52051,Q6PKX1,Q8N854,Q99972,ABM83341,ABM86555 Hs.436037 GDB:5584221 GLC1A|GPOA|JOAG|JOAG1|TIGR|myocilin protein-coding 1344327 MYOCD myocardin Myocardin is a smooth and cardiac muscle-specific transcriptional coactivator of serum response factor. When expressed ectopically in nonmuscle cells, myocardin can induce smooth muscle differentiation by its association with serum response factor (SRF; MIM 600589).[supplied by OMIM] 1580863 16054032,18028454,17938287,17579192,17360478,17292825,17215356,16625196,16151017,15907818,15014501,14970199,14702039,12756293,12640126,12397177,11439182 93649 NM_153604,AC005358,CH471108,AF532596,AK097821,AK128608,AK292885,AY764180,BC126307,BX640673 NP_705832,EAW89970,EAW89971,AAN33040,BAC05177,BAF85574,AAV33439,AAI26308,CAE45805,Q5UBU5,Q6N065,Q8IZQ8 Hs.567641 MYCD protein-coding 1353183 MYOD1 myogenic differentiation 1 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. 1580863 1846704,3175662,17693064,17378682,17014844,16858404,16841087,16614355,16435141,16099183,16007194,15251938,15231748,15163661,14767572,12947115,12887892,12716875,12657651,12477932,12397066,12196028,12105204,11784080,11756408,11711431,11684023,11532390,11463815,11285237,11279181,11025438,10944526,10924525,10764802,10757985,10619020,10601020,10583555,10471746,10406466,10082523,10022835,9862959,9826778,9774340,9710583,9692544,9659901,9546368,9482738,9418854,9407021,9343420,9242638,9238849,9235903,9234731,9184158,9001254,9001211,8999959,8922385,8759016,8617811,8576241,8548800,8381715,8380166,2583111,2550138,2315312,2253873,2176177,1850513,1849142,1649701,1406681,1335366,1320026,1310896,15029197,15674337,8621548 4654 NM_002478,AC124301,AF027148,CH471064,AI300241,BC064493,BF205042,BF304059,BT007157,CR612159,X17650,X56677 NP_002469,AAC29001,EAW68427,AAH64493,AAP35821,CAA35640,CAA40000,O75321,P15172 Hs.181768 GDB:120707 MYF3|MYOD|PUM myogenic factor 3 protein-coding 736712 MYOG myogenin (myogenic factor 4) Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. 1580863 1850513,10329008,17531403,17468105,17378694,17378682,16614355,16608842,16453911,15489334,15322112,15084602,14997318,12716875,12477932,12207009,10757985,10471746,10082523,9242638,9234731,8797820,8617811,2583111,2163343,1962752,1846704,1659574,1649701,1329097,1325437,16141233,15674337 4656 NM_002479,AC105940,AF050501,CH471067,CS018101,CS025616,X62155,AW469592,BC053899,BF204429,BT007233,X17651 NP_002470,AAG22573,EAW91463,EAW91464,CAI58665,CAI61685,CAA44080,AAH53899,AAP35897,CAA35641,P15173,Q53XW6,Q9HCA4 Hs.2830 GDB:120210 MYF4|MYOGENIN protein-coding 1346217 MYOM1 myomesin 1, 185kDa The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 7505783,10744711,6537951,15890201,12972258,12878677,12477932,10036188,9806852,7588733,15571722 8736 NM_019856,NM_003803,AP005329,AP005431,CH471113,AF185573,AI221348,AJ621424,AK125322,BC116183,BC116184,X69090 NP_062830,NP_003794,EAX01683,EAX01684,AAF63190,CAF18565,BAC86128,AAI16184,CAA48833,P52179,Q14BD5,Q14BD6,Q6H969,Q6ZUU0,Q9NZL8 Hs.464469 GDB:9956776 MGC134946|MGC134947|SKELEMIN myomesin 1 (skelemin) 185kda protein-coding 1343651 MYOM2 myomesin (M-protein) 2, 165kDa The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. 1580863 7505783,16344560,15342556,12972258,12477932,9933576,9529381,8889548 9172 NM_003970,AC125453,CH471181,AJ708170,AL596730,BC052969,BM720057,BP258208,BP260324,DA900083,X69089 NP_003961,EAW51488,EAW51489,EAW51490,EAW51491,AAH52969,CAA48832,P54296,Q7Z3Y2 Hs.443683 GDB:9955163 TTNAP protein-coding 1320744 MYOM3 myomesin family, member 3 14702039,12477932 127294 NM_152372,AL591178,CH471134,AF086254,AK093280,AK125972,AK128233,BC014671,BC067101,BX537911,BX647453,BX647455,BX647644 NP_689585,CAH72089,CAH72090,EAW95108,EAW95109,EAW95110,BAC04119,BAC86370,BAC87343,AAH14671,AAH67101,CAD97895,CAH10377,CAH10376,Q5VTT5,Q6ZU56 Hs.523413 FLJ35961|MGC71483|RP11-293P20.1 protein-coding 1321551 MYOT myotilin Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; MIM 188840), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; MIM 102575), an actin cross-linking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.[supplied by OMIM] 1599673 12809483,16076904,10958653,10369880,17698502,16801328,16793270,16674563,16380616,16122733,15489334,15111675,12499399,12477932,12428213,11038172,10486214,9828127,1676560,1598902,16189514,15967462 1599673 9499 NM_006790,AC106791,CH471062,AF133820,AF144477,BC005376 NP_006781,EAW62177,EAW62178,AAD29051,AAD44754,AAH05376,Q9UBF9,ABW03808 Hs.84665 GDB:9956877 LGMD1|LGMD1A|TTID titin immunoglobulin domain protein (myotilin) protein-coding 1351397 MYOZ1 myozenin 1 10984498,10427098,11114196,11171996,11842093,16076904,17434779,17254821,16189514,15489334,12477932 58529 NM_021245,AC073389,AF243390,CH471083,AF240633,AJ278124,AL359210,AY013297,BC025753 NP_067068,AAG27296,EAW54506,AAG24509,CAB92967,CAB94568,AAG38940,AAH25753,Q9NP98,ABM82475,ABM85663 Hs.238756 GDB:10797024 CS-2|FATZ|MYOZ protein-coding 1316992 MYOZ2 myozenin 2 10427098,11114196,11842093,16076904,17434779,17347475,16189514,15489334,15342556,12477932,11171996,11161785,9110174,8619474 51778 AC092656,NM_016599,AC107048,AC108164,AF267997,CH471229,AF007160,AF249873,AJ252149,AY013295,BC005195,BC017402,BC020932,BP370492,BT007214 NP_057683,AAG13932,EAW73662,AAC19160,AAF63623,CAB92965,AAG38938,AAH05195,AAH17402,AAH20932,AAP35878,Q9NPC6 Hs.381047 GDB:11504525 C4orf5|CS-1 protein-coding 1318422 MYOZ3 myozenin 3 1580863 10427098,11842093,16344560,15489334,15342556,12477932 91977 NM_133371,NM_001122853,AC008453,CH471062,AF052497,AF480443,AJ277961,AJ300586,AJ300587,BC069380,BC069553,BC074870,BC074871,BP360917,DB054183,DB277496 NP_588612,NP_001116325,EAW61713,EAW61714,AAL79336,CAC81912,CAC83076,CAC83077,AAH69380,AAH69553,AAH74870,AAH74871,Q8TDC0 Hs.91626 GDB:11506312 CS-3|CS3|FRP3 protein-coding 1350442 MYP1 myopia 1 (X-linked, Bornholm eye disease included) 4657 GDB:127783 1354266 MYP2 myopia 2 (high grade, autosomal dominant) 9634508 4658 GDB:9862232 1344162 MYP3 myopia 3 (high grade, autosomal dominant) 9792869 8782 GDB:9956925 1318320 MYPN myopalladin MYPN is a component of the sarcomere that tethers nebulin (MIM 161650) in skeletal muscle and nebulette (MIM 605491) in cardiac muscle to alpha-actinin (see ACTN2; MIM 102573) at the Z lines (Bang et al., 2001 [PubMed 11309420]).[supplied by OMIM] 16381901,16964243,15489336,15164054,14702039,14583192,12482578,12477932,11309420,11230166,11076863 84665 NM_032578,AC016395,AC024258,AL512429,CH471083,AF328296,AK027343,AL832002,AL832379,AL834247,BC142609,BQ009261,BX647637,BX647640,BX648564 NP_115967,CAH73747,CAH73748,EAW54267,EAW54268,AAK50625,BAB55048,CAD89906,CAD91155,CAD38923,AAI42610,Q0JSB1,Q0JU20,Q86TC9,CAL37991,CAL38603 Hs.55205 MYOP protein-coding 1351320 MYRIP myosin VIIA and Rab interacting protein 1302768,1580863 11964381,17827149,15489334,14517322,12477932,12221080,12590134,12485990 1302768 25924 NM_015460,AC099331,AC099557,AC104163,AC104185,AC104188,AC110718,AC130439,CH471055,AB083783,AF396687,AK125334,AK126013,AL050090,BC092512,BC109311,BC109312 NP_056275,EAW64595,EAW64596,BAC15555,AAM43954,CAB43262,AAH92512,AAI09312,AAI09313,Q32M41,Q32M42,Q8NFW9 Hs.594535 GDB:11510168 DKFZp586F1018|FLJ44025|MGC130034|MGC130035|SLAC2-C|SLAC2C protein-coding 1349284 MYSA myasthenic (Lambert-Eaton) syndrome antigen A 8494331 4655 GDB:137083 1602839 MYSM1 myb-like, SWIRM and MPN domains 1 17707232,17428495,16710414,12477932,11572484 114803 NM_001085487,AL035411,AL450024,AB067502,AK126835,AK292919,BC037536,BX537912,BX648168,CR627323,CR749450 NP_001078956,CAH70737,BAB67808,BAF85608,CAD97896,CAH10370,CAH18287,Q5VVJ2,Q68DD3,Q6AI53 Hs.709264 2A-DUB|DKFZp779J1554|DKFZp779J1721|KIAA1915|RP4-592A1.1 protein-coding 1323009 MYST1 MYST histone acetyltransferase 1 The MYST family of histone acetyltransferases, which includes MYST1, is named for the founding members MOZ (MYST3; MIM 601408), yeast YBF2 and SAS2, and TIP60 (HTATIP; MIM 601409). All members of this family contain a MYST region of about 240 amino acids with a canonical acetyl-CoA-binding site and a C2HC-type zinc finger motif. Most MYST proteins also have a chromodomain involved in protein-protein interactions and targeting transcriptional regulators to chromatin (Neal et al., 2000 [PubMed 10786633]).[supplied by OMIM] 11742995,11965546,18058815,17967868,17694080,16227571,16024812,15960975,15923642,15498874,15489334,14702039,12477932,12397079,10786633,9373149,8125298,17182677,16096645 84148 NM_182958,AC009088,AC135050,CH471192,AF217501,AF260665,AF289578,AK021872,AK024102,AK225660,AK291106,AL050395,BC037773,CR596643,CR596671,CR625141,NM_032188 NP_892003,EAW52157,EAW52158,AAL56648,AAF72665,AAL55762,BAB13924,BAB14827,BAF83795,CAH56416,AAH37773,Q9H7Z6,NP_115564 Hs.533803 GDB:11510170 FLJ14040|KAT8|MOF|hMOF protein-coding 737003 MYST2 MYST histone acetyltransferase 2 1580863 11931763,11278932,17182677,16096645,10438470,10930412,15383276,16169070,18250300,17954561,17081983,16964243,16645042,16428461,16387653,16189514,15963510,15489334,14702039,12477932,12034878,11978794 11143 AK023890,NM_007067,AC015795,AC027801,CH471109,AF074606,AF140360,AF217502,BC015485,BC032640,CR618482,AK122932 NP_008998,EAW94658,EAW94659,EAW94660,EAW94661,AAC99368,AAD42348,AAL56649,AAH32640,O95251,ABM81809,ABM84963 Hs.21907 HBO1|HBOA|KAT7 protein-coding 1312590 MYST3 MYST histone acetyltransferase (monocytic leukemia) 3 1580863 11742995,11965546,8782817,17805331,17296583,17081983,16916647,16713569,16613851,16344560,15657427,14702039,12771199,12676584,12477932,11313971,10824998,9558366,8849440,17182677,16096645 7994 NM_006766,NM_001099412,NM_001099413,AC090571,CH471080,AK027361,AK128323,BC018011,BC142659,BC142959,BP348860,CR621706,DA257528,DA442995,U47742,DA758316 NP_006757,NP_001092882,NP_001092883,EAW63239,EAW63240,BAB55062,BAC87385,AAI42660,AAI42960,AAC50662,Q6ZRC7,Q92794,Q96K77 Hs.491577 KAT6A|MGC167033|MOZ|RUNXBP2|ZNF220 protein-coding 1353532 MYST4 MYST histone acetyltransferase (monocytic leukemia) 4 11965546,10497217,17460191,17081983,15489334,15302935,15271374,12477932,12168954,11157802,9205841,17182677,16096645 23522 BC021128,BC048199,BC150270,BC150618,NM_012330,AC018511,AC063962,CH471083,AA416904,AB002381,AF113514,AF119230,AF119231,AF217500,AK074816,AL832065,BC014143 AAH14143,AAH21128,AAH48199,AAI50271,AAI50619,Q69YR9,Q8WYB5,NP_036462,EAW54557,EAW54558,EAW54559,BAA20837,AAF00095,AAF00099,AAF00100,AAL56647,CAH10408 Hs.35758,Hs.599543 DKFZp313G1618|FLJ90335|KAT6B|KIAA0383|MORF|MOZ2|qkf|querkopf protein-coding 1312603 MYT1 myelin transcription factor 1 The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. 1580863 9001210,1280325,17330875,14962745,12524179,12477932,11780052,10470851,10048485,9373037,8530187,7519254 4661 AB020642,BC018917,BC053638,BC062313,CR613817,CR624439,M96980,NM_004535,AL121581,CH471077 BAA74858,AAH53638,AAH62313,AAA59897,Q01538,Q6P6D5,Q7Z5W2,NP_004526,CAC17005,EAW75155,EAW75157,EAW75158 Hs.279562 GDB:127811 C20orf36|MTF1|MYTI|PLPB1 protein-coding 731726 MYT1L myelin transcription factor 1-like 1580863 15489334,12477932,12168954,10470851,9373037,8889548 23040 NM_015025,AC008276,AC009232,AC009471,AC011301,AC093390,AC106046,AB029029,AB073885,AF036943,AL133024,BC031690,BC042833,BC043230,BC071612,BC137273,BC150281,BF439754,BF530661,BM715930 NP_055840,BAA83058,AAF14051,AAH43230,AAH71612,AAI37274,AAI50282,Q49A74,Q9UL68 Hs.434418,Hs.669852 GDB:1386771 NZF1 protein-coding 1349072 MYT2 myelin transcription factor 2 9790734,9373037,10818241,7735128 8827 O15150,Q16301 AF006822,S76853 AAB62700,AAB34231,O15150,Q16301 Hs.123048 GDB:9957332 protein-coding 1318132 MZF1 myeloid zinc finger 1 1580863 10777584,1860835,17081983,16950398,16297876,15670815,15541732,15528990,15453830,12477932,10974541,1719120 7593 P28698,Q7Z729,Q96I71 NM_198055,NM_003422,AC016629,AC016630,AF161886,CH471135,AF055077,AF055078,BC007777,BC053316,BQ446552,BU620994,M58297 NP_932172,NP_003413,AAF80465,AAF80466,EAW72614,EAW72615,EAW72616,EAW72617,EAW72618,AAD55809,AAD55810,AAH07777,AAH53316,AAA59898,P28698,Q7Z729,Q96I71 Hs.399810 GDB:125898 MZF-1|MZF1B|ZNF42|ZSCAN6|Zfp98 protein-coding 1603048 Magmas mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction 15704001,15489334,14702039,12477932,11750097,10810093 51025 NM_016069,AC012676,CH471112,CS072359,AF151894,AF349455,AK026514,BC005024,CR457362 NP_057153,EAW85315,CAI93497,AAD34131,AAL57767,BAB15494,AAH05024,CAG33643,Q9Y3D7 Hs.644614 CGI-136 protein-coding 1606767 N-PAC cytokine-like nuclear factor n-pac 16352664,12477932 84656 NM_032569,AC020663,CH471112,AF217521,AF244907,AF326966,AY352585,BC003693,BC022809,BC032855,BC047223,BC048291,BC063039,BC064940,BC073868 Q9NZ78,NP_115958,EAW85251,EAW85252,EAW85253,EAW85254,EAW85255,EAW85256,EAW85257,AAF67632,AAQ14242,AAK15524,AAQ57265,AAH03693,AAH32855,AAH47223,AAH64940,Q49A26 Hs.387255 BM045|HIBDL|NP60 protein-coding 1605706 N4BP1 NEDD4 binding protein 1 11717310,9734811,15231747,14702039,12477932 9683 NM_153029,AC023813,AC026470,AL831882,CH471092,AB014515,AK001464,AK026937,AK056383,AK094234,AK124782,BC051897,BC108288,BC152472 NP_694574,EAW82729,BAA31590,BAB71172,BAC85946,AAI08289,AAI52473,O75113,Q6ZVB6,Q96MV5 Hs.511839 FLJ31821|KIAA0615|MGC176730 protein-coding 1603992 N4BP2 NEDD4 binding protein 2 This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. 12730195,17081983,14702039,12477932,11717310,10718198 55728 NM_018177,AC095057,AC098591,CH471069,AB037834,AK001542,AY267013,BC126466 NP_060647,EAW92957,EAW92958,EAW92959,BAA92651,BAA91748,AAP22172,AAI26467,Q86UW6 Hs.396494 B3BP|FLJ10680|KIAA1413 protein-coding 1604555 N4BP2L1 NEDD4 binding protein 2-like 1 12477932,8812419 90634 NM_052818,AL137247,CH471075,Z73359,AI783635,AL049785,AL049786,AL049787,AL049788,BC022188,BC125050,BI551105,BX648509,U50527,NM_001079691 NP_001073159,NP_438169,CAI13190,CAI13191,CAI13192,EAX08502,EAX08503,EAX08504,EAX08505,EAX08506,EAX08507,EAX08508,CAC94789,CAB42443,CAB42444,CAB42445,CAB42446,AAH22188,AAI25051,Q5TBK1,Q8WTU5,Q9UQP6,Q9Y273 Hs.161220 CG018 protein-coding 1603408 N4BP2L2 NEDD4 binding protein 2-like 2 14702039,12477932,8895530,8812419 10443 NM_033111,NM_014887,AL137247,AL353665,CH471075,Z73359,AF530063,AK093514,AK123084,AL049783,AL049802,BC010643,BC131631,BG435390,BG621272,BT007172,CB217966,CR596312,U50529,U50532,Z36834 NP_149102,NP_055702,CAI13193,CAI11042,EAX08514,EAX08515,CAC94790,AAQ09947,CAB42441,CAB42563,AAH10643,AAI31632,AAP35836,AAC50875,Q6ZV26,Q92802,Q96KV2,Q9Y3H6,ABM92242,ABW03285 Hs.507680 92M18.3|CG005|FLJ36195|FLJ41089|FLJ43077|PFAAP5 phosphonoformate immuno-associated protein 5 protein-coding 1323512 N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative) The protein encoded by this gene belongs to the methyltransferase superfamily. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 14702039,12477932,10830953,9373149 29104 NM_182749,NM_013240,AF227510,AL163248,CH471079,AF139682,AK092128,AK225515,BC011554,BQ021620,CR612892,CR616062,CR620576 NP_877426,NP_037372,CAB90428,EAX09939,EAX09940,EAX09941,AAD38520,AAH11554,Q96F73,Q9Y5N5 Hs.163846 C21orf127|HEMK2|MGC19995|MTQ2|N6AMT|PRED28|c21orf127 chromosome 21 open reading frame 127 protein-coding 1606676 N6AMT2 N-6 adenine-specific DNA methyltransferase 2 (putative) 14702039,12477932 221143 NM_174928,AL512652,CH471075,BC018091,CR595343 NP_777588,EAX08277,EAX08278,EAX08279,EAX08280,AAH18091,Q8WVE0,CAH71794 Hs.26674 protein-coding 1316359 NAAA N-acylethanolamine acid amidase This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10610717,18020949,17980170,16341674,15655246,15610181,15489334,12477932,8889548,1446826 27163 NM_001042402,NM_014435,AC110615,CH471057,AB161353,AK024677,AV723847,BC006388,BC011854,BM682921,BM763257,DR156596,M92449,W47597 NP_001035861,NP_055250,EAX05756,EAX05757,EAX05759,EAX05760,BAD88528,AAH06388,AAA60119,Q02083,EAX05758 Hs.699178 GDB:10796240 ASAHL|PLT protein-coding 1314164 NAALAD2 N-acetylated alpha-linked acidic dipeptidase 2 This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. 1580863 10085079,16303743,12477932,12204797,11905994 10003 NM_005467,AP000648,CH471065,CS051189,AJ012370,AK075390,AL133614,BC027594,BC038840,BC067793,BC096316,BC096317,BC096318,BC099646 NP_005458,EAW66865,CAI72090,CAB39967,AAH27594,AAH38840,AAH96317,AAH96318,AAH99646,Q4G181,AAH96316,Q4KKV4,Q4VAM9,Q8IUX3,Q9Y3Q0 Hs.503560 GDB:11500618 MGC116996|MGC26353|NAADALASE2|NAALADASE2 protein-coding 732561 NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1 1580863 9388249,10085079,8889548 10004 NM_005468,AP003068,CH471076,AF010141,AJ012371,BG757994,BM681269 NP_005459,EAW74340,AAB87645,CAB39968,Q9UQQ1,AAI40322 Hs.13967 I100|NAALADASEL n-acetylated alpha-linked acidic dipeptidase-like (ileal peptidase i100) protein-coding 1606935 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 15168106,12477932 254827 NM_207015,AC008180,AC069418,AC078803,AC083804,AC104150,AC112510,AC119040,AC119732,AC119744,AC135037,AJ607395,AJ607396,AJ607397,AJ607398,AJ607399,AJ607400,AJ607401,AK131044,AL832144,AL832931,BC057243,BN000432 NP_996898,CAE54973,CAE54974,CAE54975,CAH56310,AAH57243,CAE75743,Q58DX5,Q6H9J7,AAI56166,AAI56974 Hs.565848,Hs.603646,Hs.660010,Hs.675057 protein-coding 736700 NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 729281,1580863 8668170,17853270,17081983,15815621,15489334,15146197,12477932,12030330,11687510,11018254,9418898,8889548,7624335 729281 4664 NM_005966,AC006460,AF052744,CH471058,AF045451,AF045452,AK292446,BC035724,CF137213,CN288145,U47007 NP_005957,AAX93076,AAC28325,EAX10862,EAX10863,EAX10864,EAX10865,AAC25085,AAC25086,BAF85135,AAH35724,AAC50588,Q13506,ABM82118,ABW03366 Hs.570078 GDB:4093350 protein-coding 1323313 NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2) This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 8668170,17081983,16574654,16344560,16260776,15489334,12477932,12427750,12030330,11567222,11135623,9774344,9722618,9126479,8649813 4665 NM_005967,AC023237,AF268380,AJ011081,CH471054,U66574,BC007756,BC065931,CR603613,CR622165,DA496543,U48361,X70991 NP_005958,AAF72545,CAA09472,EAW96987,EAW96988,EAW96989,AAH07756,AAH65931,AAC50589,CAA50318,Q15742,Q96I83 Hs.159223 GDB:4106004 MADER|MGC75085 protein-coding 1318533 NACA nascent polypeptide-associated complex alpha subunit 1580863 8047162,16201836,16169070,15784678,15489334,15345747,15196207,14702039,12699894,12689679,12684039,12477932,12406326,12209604,12109594,12011100,11042152,10982809,10224091,9488446,9488445,9373149,8835540,8698236,8125298 4666 NM_005594,NM_001113201,NM_001113202,NM_001113203,AC117378,CH471054,AF054187,AK090650,AK096699,AK223085,AY034001,AY605660,AY911673,BC105120,BC105122,BC106041,BG709003,CD246364,CR450295,CR595197,CR599103,CR600016,CR600421,CR600671,CR603573,CR613486,CR618000,CR619360,CR624198,CR626308,DB487006,X80909 NP_005585,NP_001106672,NP_001106673,NP_001106674,EAW96960,EAW96961,AAC99403,BAD96805,AAK57544,AAV83778,AAX14393,AAI05121,AAI05123,AAI06042,CAG29291,CAA56869,Q13765 Hs.505735 GDB:574107 HSD48|MGC117224|NACA1 protein-coding 1605228 NACA2 nascent polypeptide-associated complex alpha subunit 2 16201836,15489334,12477932,12406326,10982809,7622554 342538 NM_199290,AC002994,AJ278883,DQ120612,BC062710 NP_954984,CAC06614,ABB92399,AAH62710,Q9H009 Hs.591178 ANAC|MGC71999|NACAL protein-coding 1625101 NACA3P NACA family member 3 pseudogene 9847074 389240 NG_005843,AC106872 NACA3 pseudo 1625090 NACAD NAC alpha domain containing 12853948,9205841 23148 XM_166571,XM_001133202,XM_001126176,XM_001717181,AC013416,CH236960,AB002361 O15069,XP_166571,XP_001133202,XP_001126176,XP_001717233,BAA20818 Hs.96633 KIAA0363 protein-coding 1605022 NACAP1 nascent-polypeptide-associated complex alpha polypeptide pseudogene 1 17353931,12477932 83955 BC074959,NR_002182,AP001208,AF315951,BC069062,BC069411,BC069542,BC074958 AAH74958,AAH74959,Q6NT22,Q9BZK3,AAG50269,AAH69062,AAH69411,AAH69542 Hs.567608 FKSG17 pseudo 1345487 NACB nascent-polypeptide-associated complex beta polypeptide 8047162 GDB:574108 1606514 NADK NAD kinase NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM] 11594753,17353931,14704851,17855339,16710414,16189514,16169070,15489334,14702039,12477932,9110174,8619474 65220 NM_023018,AL031282,CH471183,AF070630,AF250320,AK023114,AK290161,AK291599,AK291728,AY090771,BC001709,BC022063,BC024219,CR595666,AK095043 NP_075394,CAA20354,CAI20045,CAI20046,EAW56151,EAW56152,EAW56153,EAW56154,EAW56155,AAG44568,BAB14412,BAF82850,BAF84288,BAF84417,AAM01195,AAH01709,AAH24219,O95544,Q5QPS0,Q5QPS2,Q5QPS3,Q5QPS4,Q5QPS6,Q5QPS7,Q5QPS8,Q5QPS9,Q5QPT0,Q6PJ22,Q9H2P2 Hs.654792 FLJ13052|FLJ37724|RP1-283E3.6|dJ283E3.1 protein-coding 1602697 NADSYN1 NAD synthetase 1 Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM] 15231747,16189514,15489334,14702039,12547821,12477932,10737800,9373149,8125298 55191 NM_018161,AP000867,AP002387,CH471076,AB091316,AK001493,AK022436,AK094022,AK097946,AK225700,AL512694,AW804480,BC003638,BC003666,BC020977,BE730392,BI460954,BM554316,CB141878,CR457286 Q6IA69,NP_060631,EAW74792,EAW74793,BAC65148,BAA91722,BAB14034,AAH03638,AAH03666,CAG33567 Hs.556986 FLJ10631|FLJ36703|FLJ40627 protein-coding 733941 NAE1 NEDD8 activating enzyme E1 subunit 1 The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. 734592,1300048,1580863,634557 12740388,8626687,10722740,12694406,14557245,15361859,10207026,16620772,16503656,16400609,16341674,15489334,14702039,14690597,12646924,12477932,11230166,10597293,10493829,17353931,16189514 734592,634557 8883 BC013301,BC041323,BM045535,BM785899,CR597312,CR611333,CR614006,U50939,NM_001018160,NM_003905,NM_001018159,AC004638,AC044802,CH471092,AK097680,AL136798,AY197612,BC000480 AAH13301,AAC50477,Q13564,ABM83667,ABM86913,NP_001018170,NP_003896,NP_001018169,AAC23784,EAW83042,EAW83043,CAB66732,AAP35030,AAH00480 Hs.460978 GDB:9957522 A-116A10.1|APPBP1|HPP1|ula-1 app-binding protein 1 protein-coding 1606990 NAF1 nuclear assembly factor 1 homolog (S. cerevisiae) 16618814,16601202,17135485,15302935,14702039,12477932 92345 NM_138386,AC022272,CH471056,AK097352,BC008207,CR611986,CR622366 NP_612395,EAX04843,EAX04844,AAH08207,Q96HR8 Hs.655698,Hs.672113 protein-coding 1604810 NAG neuroblastoma-amplified protein 17028906,14702039,12706883,12477932,11954550,11329013,9926938 51594 NM_015909,AC007738,AC008278,AC008282,AC074184,CH471053,AF056195,AF388385,AK057915,AK097726,AL050281,AL832774,AL833270,BC040345,BC051792,BC108693,BC131735,BG195182,BQ878688,CR605675 NP_056993,AAY24347,AAX88878,EAX00900,EAX00901,EAX00902,EAX00903,AAD18133,AAM93544,CAB43382,AAH51792,AAI08694,AAI31736,A2RRP1,Q4ZG05,Q53TK6 Hs.467759 DKFZP586G1219|FLJ40407 protein-coding 1314403 NAGA N-acetylgalactosaminidase, alpha- NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). 1600557,1600558,1580863 2174888,17171432,15619430,15489334,15461802,12477932,12062184,11251574,10704524,10591208,10360181,9252785,8782044,8071745,8040340,7707696,2551294,2372288,2256909,2243144,2122119,1646157 1600557,1600558 4668 NM_000262,CH471095,M59199,Z99716,BC000095,BE734247,CB988165,CR456527,CR591632,CR592922,CR595848,CR596145,CR599558,CR601288,CR601521,CR610763,CR612931,CR618231,CR620776,CR621618,CR622743,CR623556,M29276,M38083,M62783 NP_000253,EAW60484,EAW60485,EAW60486,AAB06718,CAB41237,AAH00095,CAG30413,AAA59902,AAA36351,AAA51677,P17050,CAK54558,CAK54857,ABM82800,ABM85988 Hs.75372 GDB:119445 D22S674|GALB protein-coding 1312859 NAGK N-acetylglucosamine kinase N-acetylglucosamine kinase (NAGK; EC 2.7.1.59) converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. NAGK belongs to the group of N-acetylhexosamine kinases and is a prominent salvage enzyme of amino sugar metabolism in mammals.[supplied by OMIM] 1580863 15231747,16189514,10824116,17010375,15987957,15815621,15489334,14702039,12665801,12477932,12112843,9468341,9373149,8982040,8125298,11741987 55577 NM_017567,AC007881,CH471053,AA641666,AJ242910,AK001812,AK092876,AK097223,AK172854,AK222645,AL832837,BC001029,BC005371,BC036843,BU599058,CR615452,CR622455,CR622456,CR457271,CR591536,CR608802,CR609075 NP_060037,AAY14748,EAW99780,CAB61848,BAA91923,BAD18815,BAD96365,AAH01029,AAH05371,Q6ZMB4,Q9UJ70,ABM83600,ABM86842,CAG33552 Hs.7036 GDB:11504527 GNK|HSA242910 protein-coding 1351904 NAGLU N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. 1580863 8650226,18218046,15933803,14671302,12709672,12477932,12202988,11793481,11668611,11237686,11068184,10857861,10833408,10094189,9950362,9443878,8776591,8703123,6781343,1783617,15489334 4669 NM_000263,AC067852,AY401970,CH471152,L78465,U43572,AI299657,BC053991,BF435029,BQ012843,CR623854,L78464,U40846,U43573 NP_000254,EAW60832,EAW60833,AAB36605,AAC50512,AAH53991,AAB36604,AAB06188,AAC50513,P54802,Q14769,Q59FD0 Hs.50727 GDB:636533 MPS-IIIB|MPS3B|NAG|UFHSD protein-coding 1319056 NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network. 1580863 10551838,15976452,15489334,14702039,12477932,8922957,8619474,7786023,12058031,11723124,11408573,9110174 51172 NM_016256,AC026458,CH471112,AF052111,AF187072,AK025570,AK026122,AK092889,AK127952,BC012194,CR598113,CR599974,CR601621 NP_057340,EAW85245,EAW85246,AAF08273,AAH12194,Q9UK23 Hs.21334 APAA|UCE protein-coding 1349520 NAGS N-acetylglutamate synthase The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. 1600560,1580863 17703373,17510757,17421020,16321554,15878741,15714518,15050968,14702039,12754705,12594532,12477932,12459178,12447942,12049647 1600560 162417 NM_153006,AC023855,AY116537,CH471178,AI241153,AK074407,AK091938,AY116538,AY158070,BC111713,BF589712 NP_694551,AAM75385,EAW51643,AAM75386,AAN76451,AAI11714,Q2NKP2,Q8N159 Hs.8876 AGAS|ARGA|MGC133025 protein-coding 1348051 NAIF1 nuclear apoptosis inducing factor 1 737633 18339812,16378748,15489334,15164053,14702039,12477932,203245 737633 203245 NM_197956,AL360268,CH471090,AK122729,AL833392,BC013371,BC021580,BC047160 NP_931045,EAW87735,EAW87736,EAW87737,CAH10588,AAH21580,Q69YI7 Hs.373606 C9orf90|DKFZp762G199|RP11-379C10.2|bA379C10.2 protein-coding 1343112 NAIP NLR family, apoptosis inhibitory protein This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 17903057,17510375,17222062,15372022,15340105,15280366,12445469,12127562,11955612,11912351,10544044,10369862,9503025,7552146,15107016,11865055,10899114,17923748,8552191,7813013,18071605 4671 NM_022892,NM_004536,AB048533,AC005031,AC044797,AC139494,AC142525,CH878390,U80017,AB048534,AB209123,AK124511,U19251,U21913 NP_075043,NP_004527,AAC62261,EAW50510,AAC52047,BAB87181,BAD92360,AAC52045,AAA64504,Q13075,Q59GI6,Q8TDZ4 Hs.654500 GDB:3750557 BIRC1|FLJ42520|NLRB1|psiNAIP baculoviral iap repeat-containing 1 protein-coding 733715 NALCN sodium leak channel, non-selective NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM] 1580863 17448995,16344560,14702039,12498692,12477932,12364586,11991713 259232 NM_052867,AE014301,AL138707,AL354891,AL356778,CH471085,AF339780,AK002089,AK055506,AK094390,AK094669,AK126621,AK126718,AK172752,AY141972,BC012128,BC028390,BC064343,DA128114 NP_443099,AAN16023,CAI40711,EAX09045,EAX09046,EAX09047,EAX09048,EAX09049,EAX09050,BAD18738,AAN10255,AAH28390,AAH64343,Q5JV52,Q5VYF6,Q5VYF7,Q8IZF0 Hs.525146 GDB:11510293 CanIon|FLJ23913|FLJ44659|FLJ44764|MGC74524|VGCNL1|bA430M15.1 protein-coding 1351636 NAMPT nicotinamide phosphoribosyltransferase This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein is an adipokine that is localized to the bloodstream and has various functions, including the promotion of vascular smooth muscle cell maturation and inhibition of neutrophil apoptosis. It also activates insulin receptor and has insulin-mimetic effects, lowering blood glucose and improving insulin sensitivity. The protein is highly expressed in visceral fat and serum levels of the protein correlate with obesity. This gene has a pseudogene on chromosome 10. 737633,1580863,1642336,1642337,1642340,1642345,1642341 16496121,16489932,16449335,16414972,16394088,16234302,16188281,16186392,16021090,15947248,15815727,15604363,15592455,15489334,15124023,14702039,12853948,12782293,12690205,12555668,12477932,9847074,1702972,8289818,14704851,18270432,18239648,17984105,17952840,17931620,17904242,17889652,17582143,17556870,17512309,17429683,17408594,17392604,17340225,17335820,17334748,17327330,17307730,17284735,17261426,17237424,17189536,17177135,17090638,17003359,17003355,16956691,16922702,16868228,16828081,16814166,16802343,16783377,16736128,16735449,16733497,16720654,16718635,16701870,16636125,16531748,14499622 737633,1642336,1642337,1642340,1642345,1642341 10135 AC007032,CH236947,CH471070,AI299587,AK023341,AK292851,AL832518,BC020691,BC072439,BC106046,BI859562,CR593609,CR606862,L29050,U02020,NM_005746 AAF19249,AAQ96862,EAL24399,EAL24400,EAW83382,EAW83383,EAW83384,BAF85540,CAH56351,AAH20691,AAH72439,AAI06047,AAA17884,P43490,NP_005737 Hs.489615 1110035O14Rik|DKFZP666B131|MGC117256|PBEF|PBEF1|VF|VISFATIN pre-b-cell colony enhancing factor 1 protein-coding 1349230 NAMSD neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome) 4672 GDB:681237 1347686 NANOG Nanog homeobox 16153702,16501172,15108323,18187129,18086680,18039466,17506876,17314394,17211451,17196939,16923129,16540082,16391521,16000880,15983365,15982323,15749924,15615706,15582778,15233988,14990856,14702039,12927049,12787505,12787504,12787492 79923 NM_024865,AC006517,CH471116,CQ860374,AB093576,AK022643,AK290896,AY230262,AY578089 NP_079141,EAW88649,EAW88650,EAW88651,CAH25962,BAC76999,BAB14151,BAF83585,AAP49529,AAT81526,Q9H9S0,AAI60187,ABZ92376 Hs.661360 protein-coding 1349441 NANOGP1 Nanog homeobox pseudogene 1 1323844,1580863 15233988,15108323,14702039 1323844 404635 NG_006522,AC007536,AC124891,AK097770,AY455283 BAC05167,AAS57555,Q8N7R0 Hs.661360 NANOG2 pseudo 1342719 NANOGP10 Nanog homeobox pseudogene 10 15233988,15108323 349372 NG_004096,AL023574,AY455280 NANOGP5 pseudo 1604902 NANOGP11 Nanog homeobox pseudogene 11 15233988 414135 NG_004103,AL589963 pseudo 1346849 NANOGP2 Nanog homeobox pseudogene 2 1323844 15233988,15108323,414131 1323844 414131 NG_004099,AC097461,AY455279 NANOGP4 pseudo 1342922 NANOGP3 Nanog homeobox pseudogene 3 15233988 340217 NG_004095,AL591034 pseudo 1352067 NANOGP4 Nanog homeobox pseudogene 4 1323844 15233988,15108323 1323844 414132 NG_004100,AC004593,AY455277,CH236948 NANOGP2 pseudo 1344781 NANOGP5 Nanog homeobox pseudogene 5 15233988 414133 NG_004101,AL137072 pseudo 1604903 NANOGP6 Nanog homeobox pseudogene 6 15233988 414134 NG_004102,AL133353 pseudo 1350164 NANOGP7 Nanog homeobox pseudogene 7 1323844 15233988,15108323 1323844 414130 NG_004098,AL133373,AY455278 NANOGP3 pseudo 1604926 NANOGP8 Nanog homeobox pseudogene 8 16623708,15489334,15233988,15108323,12477932 388112 NG_004093,AC021231,AY455284,BC069807,BC098275,BC099704 AAH69807,AAH98275,AAH99704,Q6NSW7 Hs.635882,Hs.661360 MGC119250|NANOG|NANOGP1 pseudo 1343493 NANOGP9 Nanog homeobox pseudogene 9 15233988,15108323 349386 NG_004097,AL591595,AY455281 NANOGP6 pseudo 1317831 NANOS1 nanos homolog 1 (Drosophila) 1580863 12690449,17047063,16573738,15164054,10862698 340719 NM_199461,AL157788,CH471066,AF086393,AF275269,AF458985,AI276145 NP_955631,CAI14718,CAI14719,EAW49409,AAL36982,AAQ04765,Q5T9H5,Q8WY41,AAI56180 Hs.591918 NOS1 protein-coding 1354099 NANOS2 nanos homolog 2 (Drosophila) 15489334,14615895,12947200,12690449,12477932 339345 NM_001029861,AC008623,BC042883,BC117484,BC117486 NP_001025032,AAH42883,AAI17485,AAI17487,P60321 Hs.434218 NOS2 protein-coding 1315421 NANOS3 nanos homolog 3 (Drosophila) 17418157,15057824,12947200,12477932,8889548 342977 NM_001098622,AC020916,BC101209,BC101210,BI793167,CK821052,DN993610 NP_001092092,AAI01210,AAI01211,P60323,Q495E5 Hs.127982 MGC120114|NANOS1L|NOS3 protein-coding 1345004 NANP N-acetylneuraminic acid phosphatase 1580863 16237198,15489334,14702039,12477932,11780052 140838 NM_152667,AL031673,CH471133,AK055472,AK074335,AL833116,BC003415,BC022552 NP_689880,CAI22444,EAX10081,BAB85055,AAH22552,Q8TBE9 Hs.666255 C20orf147|HDHD4|MGC26833|dJ694B14.3 haloacid dehalogenase-like hydrolase domain containing 4 protein-coding 1323660 NANS N-acetylneuraminic acid synthase (sialic acid synthase) This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. 1580863 10749855,16597820,16274664,15489334,15164053,14702039,12477932,10873658,693772 54187 NM_018946,AL137073,CH471105,AF161387,AF257466,AK001659,AK091184,BC000008,BC019315,CR593110,CR600247,CR602868,CR608894,CR618616,CR624153 NP_061819,CAI13886,CAI13887,CAI13888,EAW58866,EAW58867,EAW58868,EAW58869,AAF28947,AAF75261,BAA91818,AAH00008,AAH19315,Q9NR45,Q9P0B2,ABM83093,ABM86287 Hs.522310,Hs.665191 SAS protein-coding 737279 NAP1L1 nucleosome assembly protein 1-like 1 This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing of this gene results in several transcript variants; however, not all have been fully described. 724386,1580863 7821789,12477932,14743216,11940655,8297347,17339334,17081983,17081065,16964243,16565220,16287874,15489334,15345747,15308774,14966293,14702039 724386 4673 BC018565,BT007023,CR591294,CR593037,CR594775,CR598501,CR606323,CR608944,CR609205,CR610070,CR611076,CR620230,D28430,M86667,NM_139207,NM_004537,AC011611,CH471054,AF086080,AF088017,AF300335,AK122670,AL162068,BC002387,BC015599 AAP35669,BAA05796,AAC37544,P55209,Q9H2B0,ABM81627,ABM84476,ABM84811,NP_631946,NP_004528,EAW97314,EAW97315,EAW97316,EAW97317,EAW97318,EAW97319,EAW97320,EAW97321,AAG24631,CAB82405,AAH02387 Hs.524599,Hs.695185 GDB:307756 FLJ16112|MGC23410|MGC8688|NAP1|NAP1L|NRP protein-coding 1345486 NAP1L2 nucleosome assembly protein 1-like 2 This gene encodes a member of the nucleosome assembly protein (NAP) family. The function of this family member is unknown; however, mouse studies suggest that it represents a class of tissue-specific factors interacting with chromatin to regulate neuronal cell proliferation. 1580863 8789438,15489334,12477932,10932189 4674 AC004074,CH471104,AB027013,AF136178,AK291297,BC026325,CR457095,NM_021963 EAW98670,BAA84706,AAP97268,BAF83986,AAH26325,CAG33376,NP_068798,Q9ULW6 Hs.66180 GDB:3888233 BPX|MGC26243 protein-coding 1343656 NAP1L3 nucleosome assembly protein 1-like 3 This gene encodes a member of the nucleosome assembly protein (NAP) family. It is linked closely to a region of genes responsible for several X-linked mental retardation syndromes. Alternatively spliced transcript variants have been found for this gene, but the biological validity of the variants has not been determined. 724394,1580863 8976385,15772651,14702039,12477932,9417904,9373149,8125298 724394 4675 NM_004538,AL009173,CH471115,AK090772,AK095682,AK223621,AL119710,BC034954,BC094729,CR610053,D50370,U92991 NP_004529,CAA15661,EAX02782,BAD97341,AAH34954,BAA08904,Q53EL8,Q8IYV1,Q99457,ABM81729,ABM84884 Hs.21365 GDB:3888232 MB20|MGC26312|NPL3 protein-coding 1313394 NAP1L4 nucleosome assembly protein 1-like 4 This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. 1580863 9325046,18281699,17081983,16565220,15489334,15368365,14702039,12477932,11073993,10764593,8923002,12089333 4676 NM_005969,AC131971,CH471158,U51281,AA573896,AK056828,AK093928,AK095320,BC022090,CR608677,CR617283,CR624939,U77456 NP_005960,EAX02532,EAX02533,EAX02534,AAH22090,AAC50870,Q99733,ABW03840,ABW03535 Hs.501684,Hs.695395 GDB:5583964 MGC4565|NAP2|NAP2L|hNAP2 protein-coding 1348887 NAP1L5 nucleosome assembly protein 1-like 5 1580863 17353931,17291163,16189514,16169070,14702039,12477932,12383514 266812 NM_153757,AC108065,CH471057,AK054689,AL834329,BC022544,BC039416,BC104883,CR591413 NP_715638,EAX06025,BAB70793,CAD38997,AAI04884,Q0P6B8,Q8ND87,Q96NT1 Hs.12554 DRLM protein-coding 1625092 NAP5 Nck-associated protein 5 15489334,14702039,12477932,9344857 344148 NM_207481,NM_207363,AC010890,AC010974,AC011243,AC011755,AC011996,AC012489,AC016909,AB005217,AK057980,AK092189,AK124659,AY946007,AY946008,BC110831,CA438539 NP_997364,NP_997246,BAA22433,BAC03824,BAC85920,AAY23346,AAY23347,AAI10832,O14513 Hs.537329 ERIH2|FLJ34870 protein-coding 733353 NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha The 'SNARE hypothesis' is a model explaining the process of docking and fusion of vesicles to their target membranes. According to this model, membrane proteins from the vesicle (v-SNAREs) and proteins from the target membrane (t-SNAREs) govern the specificity of vesicle targeting and docking through mutual recognition. Once the 2 classes of SNAREs bind to each other, they form a complex that recruits the general elements of the fusion apparatus, namely NSF (N-ethylmaleimide-sensitive factor) and SNAPs (soluble NSF-attachment proteins), to the site of membrane fusion, thereby forming the 20S fusion complex. Alpha- and gamma-SNAP are found in a wide range of tissues and act synergistically in intra-Golgi transport. The sequence of the predicted 295-amino acid human protein encoded by NAPA shares 37%, 60%, and 67% identity with the sequences of yeast, Drosophila, and squid alpha-SNAP, respectively. Platelets contain some of the same proteins, including NSF, p115/TAP, alpha-SNAP, gamma-SNAP, and the t-SNAREs syntaxin-2 and syntaxin-4, that are used in many vesicular transport processes in other cell types. Platelet exocytosis uses a molecular mechanism similar to that used by other secretory cells, such as neurons, although the proteins used by the platelet and their modes of regulation may be quite different. 737787,1580863 16189514,8455721,15980433,15790807,15542541,15489334,15029241,12477932,10683148,10075705,9817754,9697855,9614193,9507000,9417091,9362506,9349823,9325254,9269766,8973549,1601890,1315316,7622514,15327778 737787 8775 CR622644,CR624444,CR624846,U39412,BQ948081,BT019568,BU168063,CR590241,CR590968,CR591989,CR593591,CR595321,CR595466,CR595865,CR596698,CR597857,CR600985,CR603138,CR603798,CR604334,CR605446,CR605749,CR606227,NM_003827,AC073548,CH471126,AA807920,AK098401,AK126519,AK292244,AY927609,BC001165,CR607595,CR608932,CR612768,CR613630,CR613768,CR615344,CR617474,CR620868,CR622385,BC007432,BC028234,BC091511 AAC80170,P54920,Q6ZTL0,AAV38375,NP_003818,EAW57489,EAW57490,EAW57491,EAW57492,EAW57493,EAW57494,EAW57495,EAW57496,EAW57497,EAW57498,BAC86576,BAF84933,AAH01165,AAH07432,AAH28234,AAH91511 Hs.126938 GDB:9956897 SNAPA protein-coding 1317299 NAPB N-ethylmaleimide-sensitive factor attachment protein, beta 737634,1580863 15489334,14702039,12477932,11780052,9817754,9697855,8455721,1315316 737634 63908 AL096677,CH471133,AK022817,AK124876,AK125811,AK126340,AL834445,BC008463,BC026310,BC047426,BC060840,BX648330,NM_022080 NP_071363,CAI20156,EAX10150,EAX10151,EAX10152,EAX10153,EAX10154,EAX10155,EAX10156,EAX10157,CAD39105,AAH47426,AAH60840,Q4G0M0,Q8N8N1,Q9H115 Hs.269471 GDB:9954572 MGC26066|MGC48335|SNAP-BETA|SNAPB protein-coding 1603533 NAPEPLD N-acyl phosphatidylethanolamine phospholipase D 18067139,15820312,14702039,14634025,12477932 222236 NM_198990,NM_001122838,AC007683,CH471070,AB112352,AK023244,AY357337,BC037350,BC057294,BC071604,CR615836,CR936639 NP_945341,NP_001116310,EAW83314,EAW83315,BAD02399,AAR13673,AAH37350,AAH71604,CAI56779,Q4G0T7,Q6IQ20 Hs.324271 DKFZp781D1098|FMP30|NAPE-PLD protein-coding 1320824 NAPG N-ethylmaleimide-sensitive factor attachment protein, gamma NSF and SNAPs are general elements of the cellular membrane transport apparatus. The sequence of the predicted 312-amino acid human protein encoded by NAPG is 95% identical to that of bovine gamma-SNAP. NAPG mediates platelet exocytosis and controls the membrane fusion events of this process. 1580863 11278501,8455721,16395123,15592455,15489334,12554740,12477932,10683148,9269766,9165027,9110174,8619474,1601890,1315316,16189514,14702039 8774 NM_003826,AP001099,CH471113,AF131752,AK023725,AK126942,BC001889,CR536554,CR602036,U78107 NP_003817,EAX01582,EAX01583,EAX01584,AAH01889,CAG38791,AAB69753,Q6FHY4,Q99747 Hs.464622 GDB:9956894 GAMMASNAP protein-coding 1602193 NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM] 17604275,14702039,12477932 93100 NM_145201,AC067930,CH471162,AB242230,AF258565,AK097002,AY214325,AY214326,AY214327,BC006284,BC014190,BC032466,CR591708,CR592925 NP_660202,EAW82236,EAW82237,EAW82238,EAW82239,EAW82240,BAF75377,AAG23768,AAP69603,AAP69604,AAP69605,AAH06284,AAH14190,AAH32466,Q6XQN6,Q8WY82 Hs.493164 PP3856 protein-coding 1347374 NAPSA napsin A aspartic peptidase The activation peptides of aspartic proteinases plays role as inhibitors of the active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The pronapsin A gene is expressed predominantly in lung and kidney. Its translation product is predicted to be a fully functional, glycosylated aspartic proteinase precursor containing an RGD motif and an additional 18 residues at its C-terminus. 1580863 9877162,18195689,15048123,14702039,13129928,12698189,12477932,12151090,10591213,10580106,10580105,9561193,8163018 9476 CH471135,AF090386,AF098484,AF200345,AK055569,BC017842,BC029397,CR619860,NM_004851,AC008655 EAW71847,EAW71848,EAW71849,AAD04917,AAD13215,AAF17081,BAB70959,AAH17842,O96009,Q8WWD9,Q96NE3,ABM82919,ABM86109,NP_004842 Hs.512843 KAP|Kdap|NAP1|NAPA|SNAPA protein-coding 1344768 NAPSB napsin B aspartic peptidase pseudogene 1580863 10591213,12477932,12151090,9877162 256236 BC111705,NR_002798,AC008655,AF090387,AF098485,AF200344,BC006149,BC019048,BC032360,BC040958,BC053864,BC065203,BC085008 AAI11706,Q2NKP6,Q9UHB3,AAF17080 Hs.636624 NAP1L|NAP2|NAPB pseudo 1605690 NARF nuclear prelamin A recognition factor Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. 10514485,17654502,17326827,16714285,16344560,15667261,14702039,12477932,2123808,16189514 26502 NM_001038618,NM_031968,NM_012336,NM_001083608,AC124287,AC132938,CH471099,AA568571,AF128406,AK000929,AK056966,AK093717,AL137729,BC000438,BC016440,BQ228233,CR590238,CR595670,CR595982,CR597828,CR598397,CR601772,CR603660,CR603694,CR606462,CR611448,CR612983,CR619657,CR620704,DA695448,DB123829 NP_001033707,NP_114174,NP_036468,NP_001077077,EAW89794,EAW89795,EAW89798,AAD51446,BAA91432,AAH00438,AAH16440,Q9UHQ1 Hs.256526,Hs.600304 DKFZp434G0420|FLJ10067|IOP2 protein-coding 1314335 NARFL nuclear prelamin A recognition factor-like 16956324,18270200,14702039,12477932,11157797,9373149,8125298 64428 NM_022493,AE006464,CH471112,Z98258,AK025641,AK025861,AK056467,AK094812,AK095675,AK223005,AY129231,BC030248,BC129940,CR595518 NP_071938,AAK61251,EAW85722,EAW85723,EAW85724,CAM26480,BAB15199,BAB15261,BAD96725,AAM98737,AAH30248,AAI29941,Q9H6Q4 Hs.513247 GDB:11506314 FLJ21988|HPRN|IOP1|LET1L|PRN protein-coding 1343133 NARG1 NMDA receptor regulated 1 This gene encodes a protein of unknown function. However, similarity to proteins in yeast and other species suggests that this protein may be an N-acetyltransferase. 15496142,12145306,12140756,17081983,16518407,16518308,16279846,12087473,15815621,15489334,14702039,12477932,12145312,12145309,12019451,11687548,11478804 80155 NM_057175,AC097376,CH471056,AF327722,AJ314788,AK001595,AK023387,AK023402,AY039242,AY112670,BC032642,BC039818,BC093928,BC104806,CR614926 NP_476516,AAY40950,EAX05118,EAX05119,EAX05120,AAK15707,CAC43228,BAB14562,AAK68661,AAM48746,AAH32642,AAH39818,AAH93928,AAI04807,Q58F05,Q9BXJ9 Hs.555985 Ga19|NATH|TBDN100 protein-coding 1606244 NARG1L NMDA receptor regulated 1-like 16344560,15761153,15489334,15057823,14702039,12477932,11483580 79612 NM_018527,NM_001110798,AL354696,AL590665,AL731858,CH471075,AK025707,AK097224,AK291248,AL833341,BC017099,BC028112,BC032318,NM_024561,BC064592,BC101719,BC101721,BE501152,BX640665,DB078940 NP_078837,NP_060997,NP_001104268,CAI16619,CAQ06902,CAH71511,CAQ09847,EAX08654,EAX08655,EAX08656,EAX08657,EAX08658,EAX08659,EAX08660,BAB15222,BAC04980,BAF83937,AAH17099,AAH28112,AAH32318,AAH64592,AAI01720,AAI01722,CAE45801,Q6N069,Q8N352,Q96AH6,Q9H6N3,Q9P166 Hs.512914 MGC40612|RP11-396A22.1 protein-coding 1351476 NARG2 NMDA receptor regulated 2 737633 15606750,15146197,14702039,12975309,12477932,11297529 737633 79664 NM_024611,NM_001018089,AC087385,CH471082,AF502591,AK021958,AK055752,AK095389,AK127892,AL832046,AL833122,AL833318,AY358546,BC013684,BC020918,BC071685,BC107427,BC140894,BC151844,BX647873,CN342776,CR608429,CR612429,CR749852 NP_078887,NP_001018099,EAW77588,EAW77589,EAW77590,AAQ07460,BAB13948,CAH56220,CAH56202,AAQ88910,AAH13684,AAH20918,AAH71685,AAI07428,AAI40895,CAH56197,CAH18700,Q659A1 Hs.200943 BRCC1 protein-coding 1316312 NARS asparaginyl-tRNA synthetase Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. 1580863 9801298,9373149,9110174,8619474,8125298,6836455,16189514,9421509,15231747,16713569,15489334,12477932 4677 NM_004539,AC027097,AC100847,CH471096,AJ000334,AK129897,AK222835,BC001687,CR609633,D84273,DC302277,U79254 NP_004530,EAW63048,EAW63049,CAA04008,BAD96555,AAH01687,BAA34600,O43776,Q53GU6 Hs.465224 GDB:119446 ASNRS|NARS1 protein-coding 1605947 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative) 15779907,15489334,14702039,12477932,9373149,8125298 79731 NM_024678,AP003086,AP003110,CH471076,AK027094,AK056980,AK225444,BC007800,CR600469 NP_078954,EAW75061,EAW75062,EAW75063,BAB15655,AAH07800,Q96I59,Q9H5H1 Hs.503389 FLJ23441|SLM5 protein-coding 1346243 NARSP asparaginyl-tRNA synthetase pseudogene 319127 AL139353,NG_002505,AL136418 pseudo 1605124 NASP nuclear autoantigenic sperm protein (histone-binding) This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. 17353931,17081983,16964243,16728391,16710414,16189514,15489334,15302935,15247327,14702039,12509435,12477932,11674998,11133655,10931132,10893414,9373149,8724350,8363049,8125298,3549279,2289011,2289010,1426632,15664198 4678 NM_002482,NM_152298,AL355480,CH471059,AF035191,NM_172164,AK056161,AK092829,AK222778,AK291637,AL512718,AL571577,BC003113,BC009933,BC010105,BC011580,BC053608,BT006757,CR601103,CR601591,CR605878,CR611251,CR614144,CR615803,CR619825,CR621701,M97856,AK222816 NP_751896,NP_002473,NP_689511,CAI22460,CAI22461,CAI22462,CAI22463,CAI22464,CAI22465,EAX06964,EAX06965,EAX06966,EAX06967,EAX06968,EAX06969,AAD02006,BAD96498,BAD96536,BAF84326,AAH03113,AAH09933,AAH10105,AAH11580,AAH53608,AAP35403,AAA36027,O95138,P49321,Q53H03,Q5T622,Q5T624,Q5T626,Q5T627,Q6PJY7,Q9P1N1,ABM84201,ABM87605 Hs.319334 GDB:136214 DKFZp547F162|FLB7527|FLJ31599|FLJ35510|MGC19722|MGC20372|MGC2297|PRO1999 protein-coding 1351106 NASPP1 nuclear autoantigenic sperm protein pseudogene 1 11674998 282694 NG_002431,AC022182 pseudo 1344668 NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) 1298615,1580863 17537267,17564319,17564315,17522066,17259654,17191090,17036310,17026750,16981843,16959263,16926176,16906563,16847422,16740387,16680433,16507510,16471212,16459354,16434594,16416399,16399351,16112301,16049806,16006997,16003747,15987714,15959877,15901993,15853926,15784508,15770721,15746160,15736440,15725609,15725081,15717312,15688397,15637738,15523664,15489334,15487985,15466980,15320760,15256524,15226672,15197537,15142281,15136237,15127906,15095308,15090724,15090717,15064998,15039438,14705222,14672957,14634838,14608357,14564055,14517345,12946272,12902152,12888564,12879167,12860276,12835615,12832400,12718576,12631536,12552951,12537647,12485520,12477932,12419761,12376500,12355549,12143122,12139735,12135032,12088198,12074508,12052143,12037388,11955677,11955676,11927838,11895912,11751443,11719088,11532862,11487538,11470992,11470991,11431340,12692115,12682333,11422615,11393533,11291049,11266080,11034589,10862520,10791558,10767335,9682272,9511183,9511182,9173883,10908296,1559981,18449058,18447907,18372103,18365755,18322880,18288399,18268115,18262724,18259988,18258609,18207572,18199719,18090909,18069763,18022202,18006927,17726690,17700360,17675654,17656365,17646057,17591675,9168895,8442668,8110178,7773298,7627961,2340091,1968463,1676262 1298615 9 AC124242,AF008204,AF032677,AF032678,AF067408,AF071552,AF082903,AF082904,AF308866,AJ278017,AJ307007,AY338489,AY376850,AY730684,AY800271,CH471080,NM_000662,DQ305834,DQ305835,DQ305836,DQ305837,DQ305838,DQ305839,DQ305840,DQ305841,DQ305842,DQ305843,DQ305844,DQ305845,DQ305846,DQ305847,DQ305848,DQ305849,DQ305850,DQ305851,DQ305852,DQ305853,DQ305854,DQ305855,DQ305856,DQ305857,DQ305858,DQ305859,DQ305860,DQ305816,DQ305817,DQ305818,DQ305819,DQ305820,DQ305821,DQ305822,DQ305823,DQ305824,DQ305825,DQ305826,DQ305827,DQ305828,DQ305829,DQ305830,DQ305831,DQ305832,DQ305833,DQ305884,DQ305885,DQ305886,DQ305887,DQ305888,DQ305889,DQ305890,DQ305891,DQ305892,DQ305893,DQ305894,DQ305895,DQ305896,DQ305897,DQ305898,DQ305883,DQ305861,DQ305862,DQ305863,DQ305864,DQ305865,DQ305866,DQ305867,DQ305868,DQ305869,DQ305870,DQ305871,DQ305872,DQ305873,DQ305874,DQ305875,DQ305876,DQ305877,DQ305878,DQ305879,DQ305880,DQ305881,DQ305882,DQ305951,DQ305952,DQ305953,DQ305954,DQ305955,DQ305956,DQ305957,DQ305958,DQ305959,DQ305960,DQ305961,DQ305962,DQ305963,DQ305964,DQ305965,DQ305915,DQ305916,DQ305917,DQ305918,DQ305919,DQ305920,DQ305921,DQ305922,DQ305923,DQ305924,DQ305925,DQ305926,DQ305927,DQ305928,DQ305929,DQ305930,DQ305931,DQ305932,DQ305933,DQ305934,DQ305935,DQ305936,DQ305937,DQ305938,DQ305939,DQ305940,DQ305941,DQ305942,DQ305943,DQ305944,DQ305945,DQ305946,DQ305947,DQ305948,DQ305949,DQ305950,DQ305900,DQ305901,DQ305902,DQ305903,DQ305904,DQ305905,DQ305906,DQ305907,DQ305908,DQ305909,DQ305910,DQ305911,DQ305912,DQ305913,DQ305914,DQ305899,DQ305966,AJ581138,AJ581139,AJ581140,AJ581141,AJ581142,AJ581143,AK290912,AV754344,BC013732,BC047666,BQ024509,BX647521,CR596299,D90041,S78829,AJ581137,DQ305967,DQ305968,DQ305969,DQ305970,DQ305971,DQ305972,DQ305973,DQ305974,DQ305975,U80835,X17059,AJ581135,AJ581136 NP_000653,AAB84384,AAB86878,AAB86879,AAC24707,AAC24712,AAD13343,AAC32388,AAG23842,CAC01128,CAC38345,AAP88036,AAQ74989,AAX22230,AAV50002,ABC26210,ABC26211,ABC26212,ABC26213,ABC26214,ABC26215,ABC26216,ABC26217,ABC26218,ABC26219,ABC26220,ABC26221,ABC26222,ABC26223,ABC26224,ABC26225,ABC26226,ABC26227,ABC26228,ABC26229,ABC26230,ABC26231,ABC26232,ABC26233,ABC26234,ABC26235,ABC26192,ABC26193,ABC26194,ABC26195,ABC26196,ABC26197,ABC26198,ABC26199,ABC26200,ABC26201,ABC26202,ABC26203,ABC26204,ABC26205,ABC26206,ABC26207,ABC26208,ABC26209,EAW63787,ABC26259,ABC26260,ABC26261,ABC26262,ABC26263,ABC26264,ABC26265,ABC26266,ABC26267,ABC26268,ABC26269,ABC26270,ABC26271,ABC26272,ABC26273,ABC26274,ABC26236,ABC26237,ABC26238,ABC26239,ABC26240,ABC26241,ABC26242,ABC26243,ABC26244,ABC26245,ABC26246,ABC26247,ABC26248,ABC26249,ABC26250,ABC26251,ABC26252,ABC26253,ABC26254,ABC26255,ABC26256,ABC26257,ABC26258,ABC26327,ABC26328,ABC26329,ABC26330,ABC26331,ABC26332,ABC26333,ABC26334,ABC26335,ABC26336,ABC26337,ABC26338,ABC26339,ABC26340,ABC26341,ABC26326,ABC26291,ABC26292,ABC26293,ABC26294,ABC26295,ABC26296,ABC26297,ABC26298,ABC26299,ABC26300,ABC26290,ABC26301,ABC26302,ABC26303,ABC26304,ABC26305,ABC26306,ABC26307,ABC26308,ABC26309,ABC26310,ABC26311,ABC26312,ABC26313,ABC26314,ABC26315,ABC26316,ABC26317,ABC26318,ABC26319,ABC26320,ABC26321,ABC26322,ABC26323,ABC26324,ABC26325,ABC26275,ABC26276,ABC26277,ABC26278,ABC26279,ABC26280,ABC26281,ABC26282,ABC26283,ABC26284,ABC26285,ABC26286,ABC26287,ABC26288,ABC26289,CAE46164,CAE46165,CAE46166,CAE46167,CAE46168,CAE46169,CAE46170,BAF83601,AAH47666,BAA14095,P18440,Q09LL5,Q400I9,Q400J6,Q5C8V2,Q6U7I7,Q9HAQ5,ABC26342,ABC26343,ABC26344,ABC26345,ABC26346,ABC26347,ABC26348,ABC26349,ABC26350,ABC26351,AAB62398,CAA34905,CAE46162,CAE46163 Hs.591847 GDB:125364 AAC1|NATI protein-coding 1605376 NAT10 N-acetyltransferase 10 17353931,11214970,17631499,17180247,16381901,15489336,15489334,14702039,14592445,12477932,12429849,11230166,11076863,9373149,8125298 55226 AK022241,AK074430,AK225341,AL136882,BC014440,BC020205,BC035558,AK001636,NM_024662,AC090469,CH471064,AB051496,AF489535 BAA91800,BAB13995,CAB66816,AAH20205,AAH35558,Q05CW7,Q0JU37,Q9H0A0,CAL37974,NP_078938,EAW68174,EAW68175,BAB21800,AAO49126 Hs.577281 ALP|DKFZp434C116|FLJ10774|FLJ12179|FLJ23850|KIAA1709|hALP protein-coding 1602685 NAT11 N-acetyltransferase 11 14702039,12477932 79829 NM_024771,AP003780,CH471076,AK023910,BC024160,BC041617,BC052298,BX647309 NP_079047,EAW74183,EAW74184,EAW74185,BAB14720,AAH41617,AAH52298,Q86UY6,CAI46006 Hs.523753 FLJ13848 protein-coding 1346528 NAT12 N-acetyltransferase 12 14702039,12477932 122830 NM_001011713,AL355834,CH471061,AK024885,AK025749,AK092674,BC048983,BC118589,BC122557,BX648700 NP_001011713,EAW80704,EAW80705,AAI18590,AAI22558,Q147X3 Hs.165465 C14orf35|FLJ35355|MAK3|MGC141884|MGC141885|Mak3p chromosome 14 open reading frame 35 protein-coding 1322131 NAT13 N-acetyltransferase 13 737633,1580863 16507339,17502424,14702039,12477932 737633 80218 NM_025146,AC108693,CH471052,AK022540,AK023090,AK023256,BC012731,CR603927,CR749314 NP_079422,EAW79629,EAW79630,EAW79631,BAB14397,BAB14490,AAH12731,CAH18169,Q9GZZ1,ABM84090,ABM87460 Hs.654706 FLJ13194|MAK3|NAT5|SAN|hNAT5|hSAN mak3 homolog (s. cerevisiae) protein-coding 1601749 NAT14 N-acetyltransferase 14 11779635,10873651,12477932 57106 NM_020378,AB055059,AC008735,CH471135,AB038651,AF086533,BC019079,CR590931,CR592269,CR611579,CR619062 NP_065111,BAB85857,EAW72385,EAW72386,BAB03716,AAH19079,Q8WUY8 Hs.31854,Hs.653472 KLP1 protein-coding 732527 NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) This gene encodes N-acetyltransferase 2 (arylamine N-acetyltransferase 2). This enzyme functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are reponsible for the N-acetylation polymorphism in which human populations segregate into rapid,intermediate, and slow acetylator phenotypes. Polymorphisms in NAT2 are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near NAT2. 1298615,1581053,1580863 2340091,1559981,18449058,18421452,18372103,18365755,18349284,18330759,18304320,18287869,18268115,18264785,18262724,18258609,18207572,18199719,18187392,18167504,18160997,18159984,18090909,18075007,18061941,18033638,18027363,18026184,18023090,18022202,18019020,18006927,17996038,17973219,17950035,17936995,17880378,17726690,17684133,17675654,17665185,17661210,17656365,17653908,17611777,17610937,17569138,17564303,17537267,17535831,17525862,17522066,17513527,17512776,17510079,17509624,17503170,17502830,17479278,17477782,17449559,17442289,17441464,17434923,17377643,17335581,17291352,17290402,17290401,17287389,17270484,17264801,17259654,17224641,17205146,17194620,17191090,17160896,17078101,17063266,17026750,17025166,16985032,16981843,16926176,16924569,16906563,16896994,16886893,16847422,16827944,16782969,16770646,16740387,16721725,16697254,16629768,16621679,16615268,16614098,16571112,16570187,16567317,16556682,16533241,16531626,16507510,16504378,16488179,16481889,16471212,16459354,16434599,16434594,16424825,16416399,16399350,16397907,16380991,16369173,16327307,16251120,16246623,16224574,16182272,16155914,16151580,16150277,16141799,16112301,16097053,16083506,16049806,16015704,16006997,16003747,15987714,15987434,15931768,15914277,15914211,15905799,15901993,15890241,15855489,15853926,15829318,15808404,15808403,15784508,15774926,15770721,15746160,15743503,15736440,15725609,15725081,15717312,15700302,15691505,15679955,15671210,15663505,15637738,15618686,15617035,15612575,15609332,15602826,15588473,15565348,15558239,15548945,15546075,15499621,15489334,15450429,15355699,15339384,15316701,15312364,15256524,15226677,15225898,15162844,15142281,15136237,15127906,15122594,15111988,15110095,15090724,15090717,15069692,15069679,15061915,15032315,15005011,14994828,14747882,14705222,14656945,14648207,14646291,14634838,14618622,14582397,14564055,14528063,14504199,12888564,12884528,12883749,12879168,12877350,12860276,12835615,12818290,12814450,12773763,12768436,12760253,12747609,12747608,12724621,12718576,12708724,12692115,12682333,12680328,12668988,12663508,12654968,12631536,12630978,12622714,12611196,12584178,12580987,12552997,12552951,12546735,12544513,12492617,12484238,12477932,12474054,12469231,12465141,12430181,12419832,12402313,12397635,12376500,12360107,12355549,12235453,12222688,12165742,12163332,12163321,12139735,12135032,12110344,12088198,12082022,12074508,12067576,12037388,12018173,12016157,12015038,12012143,11967624,11936704,11934439,11927838,11915035,11911601,11895912,11872636,11865668,11858170,11846845,11815396,11791896,11774959,11773864,11773863,11751443,11751441,11751440,11751430,11719088,11702663,11675475,11595069,11520401,11487538,11482447,11470992,11470991,11431340,11422615,11393533,11372006,11323315,11291049,11285205,11266080,11245417,11219774,11219770,11214777,11201682,11186133,11181983,11099063,11034589,11008907,10791558,10625170,9202751,8466518,8460648,8110178,8102597,7920692,7915226,7902079,7773298,2924904,2734109,2068113,1996083,1968463,1676262,1441598,1381364,1306121 1298615,1581053 10 DQ904178,DQ904179,DQ904180,DQ904181,DQ904182,DQ904183,DQ904184,DQ904185,DQ904186,DQ904187,DQ904198,DQ904220,M75163,M75164,U23052,U23434,U53473,X14672,AI460128,AJ581144,AJ581145,AJ581146,AJ581147,BC015878,BC067218,CR407631,D90040,D90042,DQ305548,DQ305549,DQ305550,DQ305551,DQ305552,DQ305553,DQ305547,DQ305554,DQ305555,DQ305556,DQ305557,DQ305558,DQ305559,DQ305560,DQ305561,DQ305562,DQ305563,DQ305564,DQ305565,DQ305566,DQ305567,DQ305568,DQ305569,DQ305570,DQ305571,DQ305572,DQ305573,DQ305574,NM_000015,AC025062,AC120051,AF042740,AF055874,AF055875,AF320309,AF348074,AF348075,AY230251,AY230252,AY331807,CH471080,D10870,D10871,D10872,DQ305496,DQ305497,DQ305498,DQ305499,DQ305500,DQ305501,DQ305502,DQ305503,DQ305504,DQ305505,DQ305506,DQ305507,DQ305508,DQ305576,DQ305577,DQ305578,DQ305579,DQ305580,DQ305581,DQ305582,DQ305583,DQ305584,DQ305585,DQ305586,DQ305587,DQ305588,DQ305575,DQ305509,DQ305510,DQ305511,DQ305512,DQ305513,DQ305514,DQ305515,DQ305516,DQ305517,DQ305518,DQ305519,DQ305520,DQ305521,DQ305522,DQ305523,DQ305524,DQ305525,DQ305526,DQ305527,DQ305528,DQ305529,DQ305530,DQ305531,DQ305532,DQ305533,DQ305534,DQ305535,DQ305536,DQ305537,DQ305538,DQ305539,DQ305540,DQ305541,DQ305542,DQ305543,DQ305544,DQ305545,DQ305546,DQ305589,DQ305590,DQ305591,DQ305592,DQ305593,DQ305594,DQ305595,DQ305596,DQ305597,DQ305598,DQ305599,DQ305600,DQ305601,DQ305602,DQ305603,DQ305604,DQ305605,DQ305606,DQ305607,DQ305608,DQ305609,DQ305610,DQ305611,DQ305612,DQ305613,DQ305614,DQ305615,DQ305616,DQ305617,DQ305618,DQ305619,DQ305620,DQ305621,DQ305622,DQ472820,DQ305653,DQ305654,DQ305655,DQ422139,DQ422140,DQ422141,DQ422142,DQ422143,DQ472738,DQ472742,DQ472746,DQ472749,DQ472754,DQ472755,DQ472760,DQ472762,DQ472768,DQ472778,DQ472780,DQ472793,DQ472796,DQ472798,DQ472804,DQ472808,DQ472812,DQ472813,DQ472816,DQ305652,DQ305623,DQ305624,DQ305625,DQ305626,DQ305627,DQ305628,DQ305629,DQ305630,DQ305631,DQ305632,DQ305633,DQ305634,DQ305635,DQ305636,DQ305637,DQ305638,DQ305639,DQ305640,DQ305641,DQ305642,DQ305643,DQ305644,DQ305645,DQ305646,DQ305647,DQ305648,DQ305649,DQ305650,DQ305651,DQ472822,DQ472832,DQ472848,DQ472864,DQ472866,DQ472868,DQ472869,DQ472872,DQ472873,DQ472881,DQ472892,DQ472900,DQ472906,DQ472914,DQ472916,DQ472918,DQ472926,DQ472929,DQ472938,DQ472941,DQ472949,DQ472951,DQ472952,DQ472961,DQ472964,DQ472980,DQ472984,DQ472996,DQ473006,DQ473008,DQ473235,DQ473236,DQ473238,DQ473240,DQ473254,DQ473256,DQ473258,DQ473260,DQ473261,DQ473262,DQ473264,DQ904040,DQ904041,DQ904042,DQ904043,DQ904044,DQ904046,DQ904048,DQ904050,DQ904053,DQ904054,DQ904056,DQ904058,DQ904060,DQ904062,DQ904064,DQ904066,DQ904068,DQ904071,DQ904072,DQ904074,DQ904076,DQ904078,DQ904080,DQ904082,DQ904084,DQ904086,DQ904088,DQ904096,DQ904097,DQ904098,DQ904099,DQ904100,DQ904102,DQ904104,DQ904106,DQ904108,DQ473233,DQ904110,DQ473010,DQ473012,DQ473014,DQ473015,DQ473016,DQ473022,DQ473023,DQ473026,DQ473027,DQ473030,DQ473031,DQ473034,DQ473039,DQ473044,DQ473048,DQ473062,DQ473066,DQ473068,DQ473070,DQ473090,DQ473094,DQ473095,DQ473096,DQ473104,DQ473107,DQ473111,DQ473112,DQ473113,DQ473114,DQ473115,DQ473118,DQ473130,DQ473132,DQ473134,DQ473136,DQ473139,DQ473143,DQ473144,DQ473146,DQ473149,DQ473152,DQ473153,DQ473154,DQ473155,DQ473159,DQ473163,DQ473174,DQ473187,DQ473208,DQ473212,DQ473213,DQ473216,DQ473217,DQ473219,DQ473222,DQ473224,DQ473230,DQ473232,DQ904112,DQ904114,DQ904116,DQ904123,DQ904125,DQ904127,DQ904129,DQ904131,DQ904138,DQ904139,DQ904140,DQ904141,DQ904142,DQ904143,DQ904144,DQ904145,DQ904146,DQ904147,DQ904148,DQ904149,DQ904150,DQ904151,DQ904152,DQ904153,DQ904154,DQ904155,DQ904156,DQ904157,DQ904158,DQ904159,DQ904160,DQ904164,DQ904166,DQ904168,DQ904169,DQ904170,DQ904171,DQ904172,DQ904173,DQ904174,DQ904175,DQ904176,DQ904177 ABK34695,ABK34696,ABK34697,ABK34698,ABK34699,ABK34700,ABK34701,ABK34702,ABK34703,ABK34704,ABK34715,ABK34737,AAA59906,AAA59905,AAA64584,AAA64585,AAA98976,CAA32802,CAE46171,CAE46172,CAE46173,CAE46174,AAH15878,AAH67218,CAG28559,BAA14094,BAA14096,P11245,Q1HRY2,Q1HRY3,Q1HRY4,Q1HRY5,Q1HRY6,Q400I5,Q400I7,ABC26084,ABC26085,ABC26086,ABC26087,ABC26088,ABC26083,ABC26089,ABC26090,ABC26091,ABC26092,ABC26093,ABC26094,ABC26095,ABC26096,ABC26097,ABC26098,ABC26099,ABC26100,ABC26101,ABC26102,ABC26103,ABC26104,ABC26105,ABC26106,ABC26107,ABC26108,ABC26109,ABC26110,NP_000006,AAC03773,AAC14117,AAC14118,AAG34181,AAK51710,AAK51711,AAO73561,AAO73562,AAP81164,EAW63785,EAW63786,BAA01640,BAA01641,BAA01642,ABC26032,ABC26033,ABC26034,ABC26035,ABC26036,ABC26037,ABC26038,ABC26039,ABC26040,ABC26041,ABC26042,ABC26043,ABC26111,ABC26112,ABC26113,ABC26114,ABC26115,ABC26116,ABC26117,ABC26118,ABC26119,ABC26120,ABC26121,ABC26122,ABC26123,ABC26044,ABC26045,ABC26046,ABC26047,ABC26048,ABC26049,ABC26050,ABC26051,ABC26052,ABC26053,ABC26054,ABC26055,ABC26056,ABC26057,ABC26058,ABC26059,ABC26060,ABC26061,ABC26062,ABC26063,ABC26064,ABC26065,ABC26066,ABC26067,ABC26068,ABC26069,ABC26070,ABC26071,ABC26072,ABC26073,ABC26074,ABC26075,ABC26076,ABC26077,ABC26078,ABC26079,ABC26080,ABC26081,ABC26082,ABC26124,ABC26125,ABC26126,ABC26127,ABC26128,ABC26129,ABC26130,ABC26131,ABC26132,ABC26133,ABC26134,ABC26135,ABC26136,ABC26137,ABC26138,ABC26139,ABC26140,ABC26141,ABC26142,ABC26143,ABC26144,ABC26145,ABC26146,ABC26147,ABC26148,ABC26149,ABC26150,ABC26151,ABC26152,ABC26153,ABC26154,ABC26155,ABC26156,ABC26157,ABC26188,ABC26189,ABC26190,ABC26191,ABF57555,ABF51604,ABF57556,ABF57557,ABF57558,ABF01136,ABF01140,ABF01144,ABF01147,ABF01152,ABF01153,ABF01158,ABF01160,ABF01166,ABF01176,ABF01178,ABF01191,ABF01194,ABF01196,ABF01202,ABF01206,ABF01210,ABF01211,ABF01214,ABC26159,ABC26160,ABC26161,ABC26162,ABC26163,ABC26164,ABC26165,ABC26166,ABC26167,ABC26168,ABC26169,ABC26170,ABC26171,ABC26172,ABC26173,ABC26174,ABC26158,ABC26175,ABC26176,ABC26177,ABC26178,ABC26179,ABC26180,ABC26181,ABC26182,ABC26183,ABC26184,ABC26185,ABC26186,ABC26187,ABF01218,ABF01220,ABF01230,ABF01246,ABF01262,ABF01264,ABF01266,ABF01267,ABF01270,ABF01271,ABF01279,ABF01290,ABF01298,ABF01304,ABF01312,ABF01314,ABF01316,ABF01324,ABF01327,ABF01336,ABF01339,ABF01347,ABF01349,ABF01350,ABF01359,ABF01362,ABF01378,ABF01382,ABF01394,ABF01404,ABF01633,ABF01634,ABF01636,ABF01638,ABF01652,ABF01654,ABF01656,ABF01658,ABF01659,ABF01660,ABF01662,ABK34557,ABK34558,ABK34559,ABK34560,ABK34561,ABK34563,ABK34565,ABK34567,ABK34570,ABK34571,ABK34573,ABK34575,ABK34577,ABK34579,ABK34581,ABK34583,ABK34585,ABK34588,ABK34589,ABK34591,ABK34593,ABK34595,ABK34597,ABK34599,ABK34601,ABK34603,ABK34605,ABK34613,ABK34614,ABK34615,ABK34616,ABK34617,ABK34619,ABK34621,ABK34623,ABF01631,ABK34625,ABK34627,ABF01408,ABF01410,ABF01412,ABF01413,ABF01414,ABF01420,ABF01421,ABF01424,ABF01425,ABF01428,ABF01429,ABF01432,ABF01406,ABF01437,ABF01442,ABF01446,ABF01460,ABF01464,ABF01466,ABF01468,ABF01488,ABF01492,ABF01493,ABF01494,ABF01502,ABF01505,ABF01509,ABF01510,ABF01511,ABF01512,ABF01513,ABF01516,ABF01528,ABF01530,ABF01532,ABF01534,ABF01537,ABF01541,ABF01542,ABF01544,ABF01547,ABF01550,ABF01551,ABF01552,ABF01553,ABF01557,ABF01561,ABF01572,ABF01585,ABF01606,ABF01610,ABF01611,ABF01614,ABF01615,ABF01617,ABF01620,ABF01622,ABF01628,ABF01630,ABK34629,ABK34631,ABK34633,ABK34640,ABK34642,ABK34644,ABK34646,ABK34648,ABK34655,ABK34656,ABK34657,ABK34658,ABK34659,ABK34660,ABK34661,ABK34662,ABK34663,ABK34664,ABK34665,ABK34666,ABK34667,ABK34668,ABK34669,ABK34670,ABK34671,ABK34672,ABK34673,ABK34674,ABK34675,ABK34676,ABK34677,ABK34681,ABK34683,ABK34685,ABK34686,ABK34687,ABK34688,ABK34689,ABK34690,ABK34691,ABK34692,ABK34693,ABK34694 Hs.2 GDB:125365 AAC2 n-acetyltransferase-2 protein-coding 1317063 NAT5 N-acetyltransferase 5 11256614,16823041,16507339,16381901,15489336,15489334,12888564,12783868,12477932,11780052,11230166,11076863,10748148 51126 NM_181528,NM_181527,AL035454,AL049538,CH471133,AF085355,AL136641,BC005181,BC008446,BX338359,CR597980,NM_016100,CR607693,CR609257,CR623548 NP_057184,NP_852669,NP_852668,CAI42118,EAX10213,EAX10214,EAX10215,AAD40190,CAB66576,AAH05181,AAH08446,P61599,Q0JSS7,Q0JT17,CAL38347,CAL38437,ABM83445,ABM86628,ABM86657 Hs.368783 GDB:11508425 NAT3|dJ1002M8.1 n-acetyltransferase 5 (ard1 homolog, s. cerevisiae) protein-coding 1350941 NAT6 N-acetyltransferase 6 1332585,1580863 16641997,15489334,15036368,12477932,11929860,11085536,10644992 1332585 24142 NM_012191,CH471055,U73167,AF040705,AF040706,BC004483,BC035689,CR457113,CR613438 NP_036323,EAW65077,EAW65078,EAW65079,EAW65080,EAW65081,EAW65082,AAC02732,AAC70912,AAC70913,AAH04483,CAG33394,Q6IAP1,Q93015 Hs.129910 FUS-2|FUS2 protein-coding 1350744 NAT8 N-acetyltransferase 8 This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to three different bacterial acetyltransferases involved in drug resistance, however, its exact function is not known. 1580863 11397015,9852678,15761153,12477932,1139715 9027 NM_003960,AC092653,CH471053,AB013094,AB019551,AF187813,BC012626,BG426653,CR407610 NP_003951,EAW99727,BAA33679,BAA34386,AAF22303,AAH12626,CAG28538,Q9UHE5 Hs.14637 GDB:9958965 CML1|GLA|Hcml1|TSC501|TSC510 protein-coding 1605078 NAT8B N-acetyltransferase 8B (gene/pseudogene) The protein encoded by this gene is highly similar to the N-acetyltransferase 8 (NAT8) gene product, which is a kidney and liver protein with homology to bacterial acetyltransferases involved in drug resistance. This gene is localized on chromosome 2 in the vicinity of the NAT8 gene and may represent a pseudogene of NAT8. This gene contains two polymorphic nonsense mutations that disrupt the active site of the protein. The full-length product of this gene contains a complete acetyltransferase domain and is identical in length to NAT8. 11397015,16395595,12477932 51471 NM_016347,AC092653,CH471053,AF185571,BC069564,BC121101,BC121102,BX105650 NP_057431,EAW99724,AAF22299,Q9UHF3 Hs.458287 CML2|Hcml2|MGC97061|NAT8BP protein-coding 1602409 NAT8L N-acetyltransferase 8-like 14702039,12477932,11397015 339983 NM_178557,AL132868,CH471131,AK094797,BC093906,BC093908,BC103748 NP_848652,EAW82541,BAC04426,AAH93906,AAH93908,AAI03749,Q8N9F0 Hs.318529 CML3|FLJ37478|Hcml3|MGC117272|NAT8-LIKE protein-coding 1606805 NAT9 N-acetyltransferase 9 11256614,16381901,16169070,15761153,15489336,12477932,11230166,11076863,9373149,8125298 26151 AY632082,BC004195,BC004225,CR590647,CR598253,CR606498,CR614580,CR617253,CR619487,CR622351,NM_015654,AC016888,CH471099,AK123115,AK225602,AL050269 AAU25819,AAH04195,AAH04225,Q0JUK2,Q6ZWG7,Q9BTE0,CAL37809,CAL38704,NP_056469,EAW89193,EAW89194,EAW89195,EAW89196,EAW89197,BAC85536,CAB43370 Hs.144058 DKFZP564C103|EBSP protein-coding 1315590 NAV1 neuron navigator 1 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known. 1580863 16344560,15158073,14702039,12693553,12477932,12421765,12079279,12062803,10574462,10574461 89796 AF086348,AJ488101,AK022622,AK022631,AK024265,AK056158,AK091567,AL133664,AY043013,BC007523,BC069250,BC117683,BX648460,CR936811,DA053418,DA166081,AC092800,AJ251973,AL512788,AL645504,AX034571,CH471067,AB032977,AB033039,NM_020443 CAD32470,BAB14136,BAB14142,BAB14865,CAH56487,AAL05591,AAH07523,AAI17684,Q659D6,Q8NEY1,AAI56465,NP_065176,CAB66088,CAI17010,CAI17011,CAI17012,CAI17013,CAI17014,CAC10130,EAW91372,EAW91373,EAW91374,BAA86465,BAA86527 Hs.585374 GDB:11508813 DKFZp781D0314|FLJ12560|FLJ14203|KIAA1151|MGC14961|POMFIL3|steerin-1 protein-coding 1320655 NAV2 neuron navigator 2 The vitamin A metabolite, all-trans retinoic acid (atRA), plays an important role in neuronal development, including neurite outgrowth. RAINB1 is an atRA-responsive gene.[supplied by OMIM] 1580863 17081983,16964243,16189514,15489334,15158073,15124103,15031288,14702039,12477932,12214280,12168954,12079279,12062803,11904404,10737800,10718198,8889549 89797 NM_182964,NM_145117,NM_001111018,NM_001111019,AC009549,AC015684,AC090662,AC111163,CH471064,AA451836,AB037840,AB063115,AB063116,AF466143,AF466144,AJ488102,AJ488202,AJ488203,AJ488204,AJ488205,AJ488206,AJ488207,AJ488208,AK001495,AK001892,AK096037,AK290458,BC016054,BC107690,BC150290,BE818973,BI831180,BX459843,BX485661,R23148,AK074287 NP_892009,NP_660093,NP_001104488,NP_001104489,EAW68343,EAW68344,EAW68345,EAW68346,EAW68347,EAW68348,BAA92657,BAC00853,BAC00854,AAL96479,AAL96480,CAD32471,CAD32555,CAD32556,CAD32557,CAD32558,CAD32559,CAD32560,CAD32561,BAA91723,BAA91965,BAB85038,BAF83147,AAH16054,AAI50291,Q8IVK9,Q8IVL1 Hs.639428,Hs.502116,Hs.551898,Hs.639427 GDB:11508815 FLJ10633|FLJ11030|FLJ23707|FLJ77876|HELAD1|KIAA1419|POMFIL2|RAINB1|STEERIN2|UNC53H2 protein-coding 1314915 NAV3 neuron navigator 3 This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. 1580863 15158073,14702039,12477932,12079279,12062803,10231032,8889548 89795 AC073571,AC073608,AC078822,AC090020,AC138331,CH471054,AB023155,AF397731,AJ488201,NM_014903,AK022070,BC017667,BM684673 EAW97341,EAW97342,BAA76782,AAM73757,NP_055718,CAD32554,AAH17667,Q6PJB7,Q8IVL0 Hs.655301 GDB:9957179 KIAA0938|POMFIL1|STEERIN3|unc53H3 protein-coding 1323716 NBEA neurobeachin This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. Alternatively spliced transcript variants may exist, but their full-length nature has not been determined. 1580863 14702039,12746398,12234919,12160729,11102458,10997877,10501977 26960 NM_015678,AL138690,AL139083,AL159160,AL161718,AL161902,AL356430,AL357083,AL390071,CH471075,AB046764,AF072371,AF467288,AK001059,AK091469,AK122888,AK127791,AL137748,BX640760,CR601363,CR615674 NP_056493,CAI17182,CAI17183,EAX08541,EAX08542,EAX08543,EAX08544,EAX08545,BAB13370,AAD41633,AAM53531,BAA91485,CAB70903,CAE45866,Q5W0E6,Q5W0E7,Q6N008,Q8NFP9 Hs.491172 GDB:10795447 BCL8B|LYST2 protein-coding 1349211 NBEAL1 neurobeachin-like 1 15193433,14702039,11586298 65065 NM_001099273,NM_198945,AC011737,AB053319,AK127772,AK128636,AY172970,BX647133 NP_001092743,NP_945183,BAB69027,BAC87125,BAC87543,AAO45288,Q6ZS30,AAI66673 Hs.655319 A530083I02Rik|ALS2CR17 protein-coding 1604049 NBEAL2 neurobeachin-like 2 14702039,12975309,12477932,9628581 23218 NM_015175,AC094020,AB011112,AK074036,AK092871,AK131104,AY358455,BC029944,BC035894,BC060874,CR988681 NP_055990,BAA25466,BAB84862,BAC03994,BAC85154,AAQ88820,AAH60874,Q6ZNJ1,Q8TET5 Hs.437043 KIAA0540 protein-coding 736912 NBL1 neuroblastoma, suppression of tumorigenicity 1 This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 1580863 16344560,15528323,15489334,12477932,12150978,11594460,11134349,10208746,9831647,9660951,9516839,9324305,9303440,8609050,8084583,7777541,7633401,16189514,10390159 4681 NM_182744,NM_005380,AL031727,CH471134,D89013,AK292101,AL703187,AY049783,BC012037,BQ671197,BT019423,CR598310,D28124,DA921297 NP_877421,NP_005371,CAI19019,CAM45831,CAM45832,CAM45833,CAM45834,CAM45835,CAM45836,CAM45837,EAW94894,EAW94895,BAA92265,BAF84790,AAL15440,AAH12037,AAV38230,BAA05671,P41271,Q5TGZ2,Q5U0N4 Hs.654502 GDB:636051 D1S1733E|DAN|DAND1|MGC8972|NB|NO3 protein-coding 1348611 NBN nibrin Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. 1580863,1600219 16788144,16770759,16728435,16714331,16702373,16638864,16478990,16474176,16467875,16428493,16415040,16392640,16343742,16309973,16214912,16195237,16188882,16163361,16152606,16036916,16033915,16002061,15980987,15965469,15937485,15921821,15914210,15790808,15758953,15746160,18394656,18328813,18280732,18270339,18234271,18073374,18056440,18025084,18003706,17981542,17957789,17932350,17899368,17898048,17894553,17765870,17715134,17700070,17695489,17694070,17693401,17685459,17612497,17557904,17544403,17537595,17534377,17526493,17496786,17486112,17485521,17476281,17442057,17384674,17333333,17219051,17169801,17078101,17034901,17030982,16998789,16972754,16964243,16936774,16905549,16877808,9590180,9590181,11486038,12529385,10766245,11438675,11448772,12447371,12419185,18411307,15733840,15653682,15616588,15578693,15493328,15489334,15338273,15302935,15279809,15279770,15234984,15201865,15185344,15180989,15064416,15048089,15026416,15024084,15010895,14988723,14973119,14745549,14702039,14688016,14684699,12972939,12955071,12917199,12883362,12861053,12845677,12833396,12833146,12750284,12679336,12660252,12637527,12607005,15734743,12588868,12508248,12505263,12485469,12477932,12447395,12433983,12353271,12124628,12082606,12036913,12023982,11877377,11809878,11325820,11238951,11110662,10913111,10888888,10839545,10839544,10802669,10783165,10426999,9933573,9705271,9620777,9373149,9199571,9042920,8125298,14519663,12792649,11504724,10608806,9258347,8870681,8170997,12607003,15916964 1600219 4683 NM_002485,NM_001024688,AB013139,AF069291,AY566246,CH471060,CQ978987,AF051334,AF058696,AK001017,AK223256,AK289848,BC005293,BC016762,BC040519,BC071590,BC108650,BC146797,BX640816 NP_002476,NP_001019859,BAA28616,AAC62232,AAS59158,EAW91660,EAW91661,CAI45369,AAC39732,AAC39752,BAD96976,BAF82537,AAH16762,AAI08651,AAI46798,CAH56160,O60934,AAI43066,AAI43067 Hs.492208 GDB:9598211 AT-V1|AT-V2|ATV|FLJ10155|MGC87362|NBS|NBS1|P95 nijmegen breakage syndrome 1 (nibrin) protein-coding 1604341 NBPF1 neuroblastoma breakpoint family, member 1 The NBPF gene family, of which NBPF1 is the founding member, consists of 22 genes and pseudogenes that arose by gene duplication. NBPF genes contain numerous low-copy repetitive elements and show high intergenic and intragenic sequence identity in coding and noncoding regions (Vandepoele et al., 2005 [PubMed 16079250]).[supplied by OMIM] 16079250,14702039,12477932,11214970,7700633 55672 AB051480,AF379611,NM_017940,AF379607,AL137798,AL355149,AY894576,AY894577,AY894578,AY894579,AY894580,AY894581,AY894585,AF379612,AF379620,AF379623,AF379628,AF379613,AF379614,AF379615,AF379617,AF379618,AF379621,AF379627,AK055895,AK123260,AY894575,BC010124,BC013805,BC034418,BC066930,BC093404,BC094705,BC110431,AF379619 BAB21784,NP_060410,AAO15407,AAX85115,AAX85116,AAX85117,AAX85118,AAX85119,AAX85120,AAX85123,AAO15390,AAO15392,AAO15396,AAO15387,AAO15395,AAX85114,AAH34418,AAH94705,AAI10432,Q0VGB5,Q3BBU1,Q3BBU4,Q3BBU5,Q3BBU8,Q3BBV0,Q4VC10,Q8IU90,Q8IX79,Q8IX80,Q8IX83,Q8IX86,Q8IX87,Q9C0H0,AAO15389 Hs.445080,Hs.467587,Hs.515947,Hs.523572 AB13|AB14|AB23|AD2|FLJ20719|KIAA1693|NBG|NBPF protein-coding 1603454 NBPF10 neuroblastoma breakpoint family, member 10 16079250,14702039,12477932 440673 AL592307,AF379624,AF379632,AF379634,AF379635,AF380580,AF380582,AF419616,AK000726,AK125792,AL050141,AY894565,BC021111,BC063799,BX538005,NM_001039703,AF379616 NP_001034792,CAH73995,CAH73996,AAO15393,AAO15400,AAO15403,AAO15405,AAO15442,BAA91343,AAX85104,AAH63799,Q3BBW0,Q5VTG7,Q5VTG8,Q6P3W6,Q8IX62,Q8IX72,Q8IX75,Q8IX82,Q8IX85,AAO15388,AAI48332 Hs.515947 AB6|AG1 protein-coding 1603883 NBPF11 neuroblastoma breakpoint family, member 11 16079250,14702039,7700633 200030 NM_183372,AF379606,AL049742,AL356004,AF419617,AI865471,AK054850,AL832622,BI552657,BX648497,CR600619 NP_899228,AAO15406,CAD89962,Q5T5P4,Q86T75,Q8IX88 Hs.445080,Hs.636561 NBG protein-coding 1603453 NBPF12 neuroblastoma breakpoint family, member 12 16079250,9110174,8619474 440675 XM_001715810,AL139152,AF131738,AL040349 XP_001715862,CAI22485,AAD20027,Q5TAG4 Hs.568235,Hs.666981 protein-coding 1606849 NBPF13P neuroblastoma breakpoint family, member 13 (pseudogene) 16079250 644861 NG_005554,AL596177 pseudo 1604034 NBPF14 neuroblastoma breakpoint family, member 14 16079250,14702039,9110174,8619474 25832 NM_015383,AL022240,AL138796,AL592307,AY894582,AY894583,AF161426,AF379622,AF379626,AF379631,AK092351,AK095459,AL117237 NP_056198,CAI20179,CAI20180,CAI20181,CAI20182,CAI20183,CAI20184,CAI20185,CAI20186,CAI22821,CAH73997,AAX85121,AAX85122,AAF28986,AAO15391,AAO15394,AAO15399,CAB55305,Q3BBU2,Q5TB04,Q5TI25,Q5VTG6,Q8IX81,Q8IX84,Q9P074 Hs.467587,Hs.515947,Hs.534675,Hs.607640 DJ328E19.C1.1|FLJ35032|NBPF|RP3-328E19.1 protein-coding 1603863 NBPF15 neuroblastoma breakpoint family, member 15 16079250,14702039,12477932 284565 AL954711,AF379630,AK097180,NM_173638,AK290142,AY894566,BC023087,CR599564,CR608846,CR610345,AF420437 NP_775909,CAM22821,AAO15398,BAF82831,AAX85105,AAH23087,Q8IX61,Q8N660,AAO15443 Hs.523572,Hs.655246 AB14|MGC8902 protein-coding 1602233 NBPF16 neuroblastoma breakpoint family, member 16 16710414,16344560,16079250,15489335 728936 NM_001102663,AL592492,AF380581,AI675925,CV024999,DA932476,DB185273,DC372755,ES313907 NP_001096133,CAI16654,AAO15404,Q5SXJ2,Q8IX71 Hs.445080,Hs.515947,Hs.523572,Hs.534675,Hs.656410 AG3 protein-coding 1606367 NBPF17P neuroblastoma breakpoint family, member 17 (pseudogene) 16079250 401967 NG_005550,AL732363 pseudo 1603448 NBPF18P neuroblastoma breakpoint family, member 18 (pseudogene) 16079250 441908 NG_005552,AL450992 pseudo 1602376 NBPF19 neuroblastoma breakpoint family, member 19 16079250 641589 AC026900 protein-coding 1605785 NBPF20 neuroblastoma breakpoint family, member 20 16079250,15252450,12477932 400818 DQ786323,NM_001037675,XM_001723523,XM_001721345,BX546486,AY894574,BC071995 NP_001032764,XP_001723575,XP_001721397,CAI16969,CAM23768,AAX85113,Q3BBV1 Hs.515947,Hs.534675 KIAA1245 protein-coding 1606426 NBPF21P neuroblastoma breakpoint family, member 21 (pseudogene) 16079250 205655 NG_005549,AC098648 pseudo 1626600 NBPF22P neuroblastoma breakpoint family, member 22 (pseudogene) 16079250,12477932,11181995 285622 NR_003719,AC020923,CH879424,BC050328 EAW50392,AAH50328,Q86W86 Hs.449272 MGC48637 pseudo 1606651 NBPF2P neuroblastoma breakpoint family, member 2 (pseudogene) 16079250 343381 NG_005533,AL592309 pseudo 1604276 NBPF3 neuroblastoma breakpoint family, member 3 17391723,16381901,16189514,16079250,15489336,15334068,14702039,12477932,11230166,11076863,9587054 84224 NM_032264,AL592309,CH471134,AF379629,AK095602,AK098438,AK292580,AL136890,AL834330,AY598326,AY894564,BC024011,BI909818 NP_115640,CAH72075,CAH72077,CAH72078,EAW94971,EAW94972,EAW94973,AAO15397,BAF85269,CAB66824,CAD38998,AAT06737,AAX85103,AAH24011,Q5VTG4,Q9H094,CAL37902,AAI46689 Hs.325422 AE2|DKFZp434D177|RP11-293F5.5 protein-coding 1603519 NBPF5 neuroblastoma breakpoint family, member 5 16079250,12477932 284610 XM_001714472,BX323851,BX649306,BC043522 XP_001714524,AAH43522,Q5TZ67,Q86XG9 DKFZp434D177-like|RP11-242D10.1 protein-coding 1602598 NBPF6 neuroblastoma breakpoint family, member 6 16079250 653149 XM_926213,AL390038,AL392088 XP_931306,CAH70399,CAI23469 Hs.512038 protein-coding 1602958 NBPF7 neuroblastoma breakpoint family, member 7 16079250 343505 NM_001047980,AL359752 NP_001041445,P0C2Y1,AAI56111,AAI56967 Hs.647677 protein-coding 1605145 NBPF8 neuroblastoma breakpoint family, member 8 16079250,12477932 641559 NM_001037501,AL049742,AL356004,AY894562,AY894563,AY894567,AY894568,AY894569,AY894570,AY894571,AY894572,AY894573,BC071723,BC086308 NP_001032590,AAX85101,AAX85102,AAX85106,AAX85107,AAX85108,AAX85109,AAX85110,AAX85111,AAX85112,AAH86308,Q3BBV2,Q3BBV4,Q3BBV5,Q3BBV6,Q3BBV7,Q3BBV8,Q3BBW2,Q3BBW3,Q5U227 Hs.515947,Hs.534675,Hs.657287 protein-coding 1601680 NBPF9 neuroblastoma breakpoint family, member 9 16079250,14702039,12477932 440670 XM_001717398,AC026900,BX842679,AF419618,AF419619,AK095030,BC027348,BC094841 XP_001717450 Hs.515947 AE01 protein-coding 1322877 NBR1 neighbor of BRCA1 gene 1 The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled coil motif, which is present in many genes with transformation potential, but the function of this protein is unknown. This gene is located on a region of chromosome 17q21.1 that is in close proximity to tumor suppressor gene BRCA1. Three alternatively spliced variants encoding the same protein have been identified for this gene. 16189514,15802564,15489334,14702039,12813044,12477932,12107412,11856312,11179671,8700509,8069304,7997258,7584044,7581362,7545954 4077 NM_031862,NM_031858,NM_005899,AC060780,CH471152,DQ190450,DQ190451,DQ190452,DQ190453,DQ190454,DQ190455,DQ190456,DQ190457,DQ478408,U25764,AF227189,AK128512,AK290005,AY450308,BC009808,BC012847,BM509256,CD673012,CR599421,CR604121,D30756,X76952 NP_114068,NP_114064,NP_005890,EAW60946,EAW60947,EAW60948,EAW60949,EAW60950,EAW60951,EAW60952,EAW60953,ABA29210,ABA29213,ABA29216,ABA29219,ABA29222,ABA29225,ABA29228,ABA29231,ABF14461,AAA93228,AAF74119,BAF82694,AAS15047,AAH09808,BAA06417,CAA54274,Q14596,Q3LRI0,Q3LRI6,Q3LRI9,Q3LRJ5,Q3LRJ8,Q3LRK1,Q5J7Q8 Hs.277721,Hs.373818,Hs.546264 GDB:378204 1A1-3B|KIAA0049|M17S2|MIG19 membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen ca125) protein-coding 1353151 NBR1 neighbor of BRCA1 gene 1 8069304 X76952 1345311 NBR2 neighbor of BRCA1 gene 2 This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 bases upstream of the last splice site for the transcript suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. 1580863 16438707,16052033,15777733,15533724,12477932,11508855,11179671,10531328,10205276,9261099,9215675 10230 NR_003108,NG_005905,AC135721,AL598622,AY597810,BC022065,BC034248,BC107773,BT007332,CR936675,U88573 Hs.373818,Hs.559259 GDB:9955775 DKFZp686F081|MGC104305 miscrna 1348281 NCALD neurocalcin delta This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. 11964161,11256614,17671797,16381901,16344560,15489334,14702039,12477932,11836243,11267673,11230166,11115393,11076863,9110174,8889548,8619474,7852401,16189514,15489336 83988 AP000426,AP001206,AP001328,AP001329,AP001575,CH471060,AB209015,AF052142,AF251061,AK055073,AK055097,AK096515,AL136612,BC009949,BC033319,BC036098,BC063428,BM681731,CR608225,DA185335,DA211806,DA215759,DA417037,DA776593,DA779293,NM_001040630,NM_001040627,NM_001040629,NM_001040626,NM_001040625,NM_001040628,NM_001040624,NM_032041,DB284042 EAW91835,EAW91836,EAW91837,BAD92252,AAK34951,CAB66547,AAH36098,AAH63428,NP_001035720,NP_001035717,NP_001035719,NP_001035716,NP_001035715,NP_001035718,NP_001035714,NP_114430,P61601,Q0JTD9,Q0JVA2,Q59GU4,CAL37558,CAL38224,ABZ92067 Hs.492427,Hs.680132 GDB:10796510 MGC33870|MGC74858 protein-coding 734022 NCAM1 neural cell adhesion molecule 1 1358750,1580863 15146195,15061198,15050861,15006709,14959847,14726964,14702039,14688313,12937148,12837245,12791681,12743109,12727026,12594840,12477932,12121226,12008081,12003861,11915324,11839780,11820619,11685193,11681838,10766765,10760298,10611478,9951628,9774483,9079653,8910306,8702635,8509458,8075973,7854457,7755976,7624364,3281256,3253057,3203385,2887295,2612216,1710251,1543753,1339414,10770948,3576199,18261743,18231917,18209097,17982624,17971410,17900814,17891186,17878347,17761687,17683591,17635242,17467233,17431094,17413444,17337466,17216340,17208489,17181871,17161382,17085484,17043020,17005551,17003032,16892559,16690409,16627685,16572491,16534119,16406048,16344560,16335952,16316416,16211277,16172115,16027151,15950781,15822905,15782066,15626024,15528382,15459479,15356097,15246157,15231874,15223636 4684 NM_181351,NM_000615,NM_001076682,AP000802,AP000880,AP000999,AP002853,CH471065,M22092,AB209443,AF005070,AK054570,AK054929,AK057509,AK292453,AW131780,BC014205,BC019845,BC029119,BC047244,CR600745,DA231540,DA337649,M17409,M17410,M22094,S71824,S73101,U63041,X16841,X55322 NP_851996,NP_000606,NP_001070150,EAW67201,EAW67202,EAW67203,EAW67204,EAW67205,EAW67206,EAW67207,EAW67208,AAA59911,AAB61615,BAF85142,AAH14205,AAH29119,AAH47244,AAA59912,AAA59913,AAA59910,AAB31836,AAB20698,AAB04558,CAA34739,P13591,P13592,Q05C58,Q16209,Q59FL7,Q86X47,Q96CJ3,BAD92680 Hs.503878,Hs.568910 GDB:119448 CD56|MSK39|NCAM protein-coding 1342930 NCAM2 neural cell adhesion molecule 2 The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. 1580863 9226371,15146195,12754519,12538518,12477932,10830953,16009131 4685 NM_004540,AP001114,AP001115,AP001136,AP001137,AP001138,AP001252,CH471079,AA234378,BC036088,BC052946,U75330 NP_004531,EAX10004,EAX10005,AAH52946,AAB80803,O15394,Q7Z7F2 Hs.473450 GDB:6053726 MGC51008|NCAM21 protein-coding 1344259 NCAN neurocan Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM] 728116,1580863 18193043,15146197,15057824,14702039,12477932,11076863,10934197,9795216,9507007,9341124,8910306,8663515,7513709,7490074,1326557 728116 1463 NM_004386,AC003110,AC005254,AC138430,CH471106,AB210004,AF026547,AK126639,CN282070,CR595144,CR620706,CR626573 NP_004377,AAB86655,AAC25581,EAW84801,EAW84802,BAE06086,AAC80576,O14594,Q4LE67,AAI11852 Hs.169047 GDB:9786129 CSPG3|FLJ44681 chondroitin sulfate proteoglycan 3 (neurocan) protein-coding 1604840 NCAPD2 non-SMC condensin I complex, subunit D2 10958694,10101332,18340469,17081983,16964243,16565220,15489334,15146197,14702039,12477932,12138188,11136719,10601332,8590280 9918 CH471116,AK022511,AK125155,AK128354,AL548223,BC016913,BC028182,CN307514,D63880,NM_014865,NG_007073,AC006064 EAW88788,EAW88789,EAW88790,BAC86066,AAH16913,AAH28182,BAA09930,Q15021,Q6ZV00,NP_055680 Hs.5719 CAP-D2|CNAP1|KIAA0159|hCAP-D2 protein-coding 1603696 NCAPD3 non-SMC condensin II complex, subunit D3 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM] 14532007,18223322,16565220,15635413,15489334,15302935,14702039,12477932,9110174,8619474,7584044 23310 NM_015261,AP001775,CH471065,AF070553,AK025549,AK025667,AK095267,AK124878,BC011408,BC098398,CR614818,D29954 NP_056076,EAW67821,EAW67822,EAW67823,EAW67824,AAC28639,AAH11408,AAH98398,BAA06224,P42695,Q96FA6 Hs.438550 CAP-D3|FLJ42888|KIAA0056|MGC104671|hCAP-D3|hHCP-6|hcp-6 protein-coding 1605960 NCAPG non-SMC condensin I complex, subunit G 17353931,10910072,17081983,16565220,15662014,15489334,15148359,14702039,12477932,11136719 64151 NM_022346,AC005768,CH471069,AB013299,AF235023,AF331796,AK022512,AK023147,AK027511,BC000827,BC002337,BC068467,BC101476,BG398543,BM743260,BX474610 NP_071741,EAW92785,BAB21557,AAG30732,AAG49627,BAB14069,BAB14429,BAB55165,AAH00827,AAH02337,AAH68467,AAI01477,Q6NUR1,Q9BPX3 Hs.446201,Hs.567567 CAPG|CHCG|FLJ12450|HCAP-G|MGC126525|NY-MEL-3 protein-coding 1603208 NCAPG2 non-SMC condensin II complex, subunit G2 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPG2 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM] 12477932,16565220,16344560,15489334,14729962,14702039,14532007,12853948,12690205 54892 NM_017760,AC019084,AC093662,CH236954,CH471149,AK000318,AK022744,AK023347,AK092008,BC005878,BC020560,BC028618,BC043404,BX537845,CA422216,CR594919,CR607927,DB069860 NP_060230,AAS07494,EAL23929,EAX04585,EAX04586,EAX04587,EAX04588,EAX04589,BAA91081,BAB14219,BAB14534,AAH05878,AAH20560,AAH43404,CAD97854,Q75L29,Q86XI2,Q9NXD3 Hs.18616 CAP-G2|FLJ20311|LUZP5|MTB|hCAP-G2 protein-coding 1352198 NCAPH non-SMC condensin I complex, subunit H This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. 1580863 11694586,16964243,16565220,16543152,15489334,12477932,11136719,9417923,9160743,7584044 23397 NM_015341,AC021188,CH471207,AK291053,BC024211,BI559873,BI560881,CR592757,CR610329,CR620375,D38553 NP_056156,EAW71370,BAF83742,AAH24211,BAA07556,Q15003,ABM84358,ABW03559 Hs.308045 GDB:6175919 BRRN1|CAP-H|HCAP-H protein-coding 1601870 NCAPH2 non-SMC condensin II complex, subunit H2 Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPH2 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM] 15461802,14532007,12667442,12477932,10493829 29781 CR590330,CR590436,CR590552,CR590681,CR591701,CR599763,CR601437,CR601745,CR604635,CR605045,CR609849,CR614331,CR626379,CR626715,DB498781,NM_014551,CH471138,U62317,AL021682,BC000473,BC001298,BC001509,BC001833,BC001937,BC009441,BC014939,BM802841,BU632273,CR456604,NM_152299 CAG30490,Q6IBW4,NP_689512,NP_055366,EAW73552,EAW73553,EAW73554,EAW73555,EAW73556,EAW73557,EAW73558,EAW73559,AAB03345,CAA16670,AAH00473,AAH01298,AAH01509,AAH01833,AAH01937,AAH09441,AAH14939 Hs.180903 384D8-2|384D8_6|CAP-H2|MGC15858|MGC18000|MGC2455|MGC4133|MGC5305|MGC8640|hCAP-H2 protein-coding 1319058 NCBP1 nuclear cap binding protein subunit 1, 80kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. 1580863 8069914,7478990,9111328,9342333,15130578,11333016,9049306,9409616,12676794,7937105,17499042,17081983,16344560,16317009,16189514,16186820,16156639,15901492,15680326,15574332,15489334,15361857,15164053,15040442,12477932,12434151,12374755,12093754,11545740,11340157,10973943,10786834,9933612,8812508,2148205 4686 NM_002486,AL162385,AL445531,CH471105,AB209233,BC001450,CA418527,D32002,DB086376,X80030 NP_002477,CAI12861,CAI12863,CAI15431,EAW58852,EAW58853,EAW58854,BAD92470,AAH01450,BAA06769,CAA56334,Q09161,Q5T7W5,ABM86308,ABW03802 Hs.595669,Hs.686479 GDB:393275 CBP80|MGC2087|NCBP protein-coding 1313360 NCBP2 nuclear cap binding protein subunit 2, 20kDa The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 7651522,7478990,9111328,15130578,11333016,9049306,9409616,12676794,9342333,17499042,15574332,15489334,15361857,15342556,15146197,15040442,14702039,12477932,12434151,12374755,12093754,11551508,11545740,11331597,10786834,9933612,8682299,8601613,8069914,16189514 22916 NM_007362,NM_001042540,AC011322,CH471191,AK093216,AL110262,AW440347,AY644767,BC001255,BP248419,BT006842,BX537372,BX647994,CN421262,CR590424,D59253,X84157 AAV85455,NP_031388,NP_001036005,EAW53620,EAW53621,EAW53622,EAW53623,EAW53624,AAH01255,AAP35488,CAD97614,BAA09599,CAA58962,P52298,Q7Z3W9,ABM81629,ABM84813 Hs.591671 GDB:686242 CBC2|CBP20|NIP1|PIG55 protein-coding 1353799 NCBP2L nuclear cap binding protein subunit 2-like 392517 AL109946 CAO72051,A6PVI3,Q8WWK2 dJ820B18.1 protein-coding 734133 NCDN neurochondrin This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. 15790563,14559245,12477932,11984006,11162505,10684983,10524216,9628581 23154 NM_014284,NM_001014839,NM_001014841,AB027514,AC004865,CH471059,AB011179,AB018739,AB018740,AL536768,AW207151,BC024592,BI545092 NP_055099,NP_001014839,NP_001014841,BAA77830,BAA77831,AAD05029,EAX07410,EAX07411,EAX07412,BAA25533,BAA85384,BAA85385,AAH24592,Q9UBB6,ABM82076,ABM85256 Hs.121870 KIAA0607 protein-coding 1348698 NCF1 neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1) The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. 1600562,1624399,1624401,1580863 2848318,2547247,11094157,18070887,18045865,18028450,18004884,17925180,17922419,17586618,17478731,17438039,17217339,17150107,16778989,16608528,16326715,15489334,12853948,12681507,12477932,12176908,11740866,11373621,11133775,10772875,9373149,9329953,8125298,8089108,7545954,2550933,2398896,2011585,14694110,12023963,12539042,16189514,11027608,12618429,12356722,11278853,8766817,10899172,9255350,11120743,11258927,9083043,12169629,10486263,10436021,10369419,7938008,11485312,11741599 1600562,1624399,1624401 653361 NM_000265,AC083884,AF184614,U57835,AF330625,AF330626,AF330627,AK127905,AK223217,BC002816,BC065731,M25665,M55067,U25793 NP_000256,AAS07465,AAF34737,AAB95193,AAK19516,AAK19517,AAK19518,BAD96937,AAH02816,AAH65731,AAA57209,AAA59901,AAA93232,P14598,Q53FR5,ABM84076,ABM87444 Hs.647047 GDB:120222 NCF1A|NOXO2|SH3PXD1A|p47phox neutrophil cytosolic factor 1 (47kda, chronic granulomatous disease, autosomal 1) protein-coding 1602015 NCF1B neutrophil cytosolic factor 1B pseudogene 12477932,12176908,10772875,9847074,9329953,16720733 654816 NR_003186,AC006995,AK292094,BC080194 BAF84783 Hs.647047,Hs.655201 SH3PXD1B pseudo 1602014 NCF1C neutrophil cytosolic factor 1C pseudogene 16344560,12477932,12176908,10772875,9847074,9329953,1554499,15775784,11940577,12130503,12681507,12101222,16460309,12152222,11970841,11893732,15024088,14761962,12855698,12356722,16297854,15618548,15777282,15256399,16626305,15213464,15181005,11903052,15033459,12859985,12732142,12719414,12672956,12589359,12556460,11796733,16293794,11375989,11278853,10899172,8766817,12023963,9255350,12169629,10486263,9083043,7938008,12618429,10369419,11741599,11485312,11027608,11258927,11120743,15629715,12734380,15225553 654817 NR_003187,AC124781,BC071711,BC094845 Hs.647047 SH3PXD1C pseudo 1319760 NCF2 neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in two transcript variants that encode the same protein. 1624401,1580863 1692159,11027608,16189514,18029359,17910042,17712795,17537988,17462995,17060455,16987007,16710414,16626305,16608528,16344560,16310324,16297854,16293794,15513967,15489334,15342556,15256399,15181005,12719414,12716910,12477932,12207919,12169629,12130503,12121978,12101222,11929750,11917128,11896062,11893732,11796733,11781392,11733522,11705402,11278853,11090627,10672014,10598813,10498624,10486263,9642115,9624165,9255350,9083043,9070911,8975869,8889548,8748143,8286749,8257426,7938008,7903171,2393022,1979859,9365277 1624401 4688 NG_007267,NM_001127651,AL137800,CH471067,DQ314879,DQ517931,U00777,U00778,U00779,U00780,U00781,U00782,U00783,U00784,U00785,U00786,U00787,U00788,AF527950,AK312666,BC001606,BM979513,BP193903,BQ029626,BT007439,BU617086,CR593013,DA420141,DC358267,M32011,AB209647,NM_000433 NP_000424,NP_001121123,EAW91160,EAW91161,EAW91162,ABC40738,ABG74586,AAB60320,AAM89263,BAG35548,AAH01606,AAP36107,AAA36379,P19878,Q0Q616,Q59F14,Q5JV65,Q5JV66,BAD92884,ABM84576,ABM86738 Hs.587558 GDB:120223 FLJ93058|NCF-2|NOXA2|P67-PHOX|P67PHOX protein-coding 1314271 NCF4 neutrophil cytosolic factor 4, 40kDa The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 9914162,9804763,9373149,9370364,9365277,9083043,8982388,8839867,8670049,8147882,8125298,7938008,243433,8280052,17897462,17698849,16880255,16608528,16102984,15657040,15489334,15461802,15035643,12887891,12556460,12477932,12456638,12356722,12065324,12036891,11917128,11903052,11893732,11796733,11716484,11684018,11433301,11433300,11258927,10672014,10591208,10437784,10397171 4689 NM_013416,NM_000631,AL008637,CH471095,DQ314880,U50720,U50721,U50722,U50723,U50724,U50725,U50726,U50727,U50728,U50729,AB025219,AB025220,AK223324,AK290924,BC002798,BT007346,BU076892,BX355636,CR456528,CR542078,CR595164,CR595418,CR616659,X77094 NP_038202,NP_000622,CAA15486,EAW60122,EAW60123,EAW60124,ABC40739,AAB39970,BAA89791,BAA89792,BAD97044,BAF83613,AAH02798,AAP36010,CAG30414,CAG46875,CAA54372,Q15080,Q53FG4,Q6FGM9,CAK54559,CAK54858 Hs.474781 GDB:1320258 MGC3810|NCF|P40PHOX|SH3PXD4 protein-coding 1321736 NCK1 NCK adaptor protein 1 The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. 1580863 12110186,18212058,17984209,17944934,17906149,17803907,16835242,16636066,16595635,16543952,16525419,16503409,15951569,15556869,15489334,15469942,15187089,15144186,15051508,14757753,14559906,12819203,12477932,12181570,12154000,12149262,12135674,12091389,12087092,12074588,12007418,11959995,11741599,11689432,11494134,11487585,11418237,11340081,11279207,11278553,11278500,11278436,11278241,11240126,11160719,11024037,9837978,9737977,9697839,9694849,9600074,9430661,9405464,9362449,9344857,9314836,9233798,9135144,9024622,9010224,9006905,8910519,8879209,8824201,8810325,8605018,7956370,7862111,7806213,7706279,7565724,7517397,2107526,1448108,1333046,11483358,16189514,15388330,16729043,15297625,15558067,15696170,11533668,8890167,10808124,10805734,10766742,10747096,10671570,10521462,10508618,10409713,10330411,10229072,10206341,10026169,10022833,9843378 4690 NM_006153,AC011597,CH471052,BC006403,X17576 NP_006144,EAW79105,EAW79106,EAW79107,EAW79108,EAW79109,AAH06403,CAA35599,P16333,ABM84020 Hs.477693 GDB:344960 MGC12668|NCK|NCKalpha protein-coding 1314306 NCK2 NCK adaptor protein 2 This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 12110186,9737977,17906149,17803907,16835242,16752908,16636066,16604428,15764601,15489334,15096211,12794636,12477932,12213210,12206665,12074588,11950595,11557983,11514578,11240126,11027258,10887126,10026169,10022929,9843575,1333047,16189514,12470648,15117958 8440 NM_003581,NM_001004722,NM_001004720,AC009505,AC010978,CH471127,AF043119,AF047487,BC000103,BC007195,BC033176,BM555604,BM920530,CB959523,CR594525,CR597804 NP_003572,NP_001004722,NP_001004720,AAY24332,AAY14937,EAX01753,EAX01754,AAC04831,AAC80284,AAH00103,AAH07195,O43639,Q53T91,Q53TG4 Hs.529244 GDB:9955159 GRB4|NCKbeta protein-coding 732467 NCKAP1 NCK-associated protein 1 1580863 11418237,17353931,10673335,15489334,15324660,15048733,15048123,14702039,14560022,14506234,12477932,12181570,9628581,9463375,9417078,9148763,8605018,15749123 10787 NM_013436,NM_205842,AC064871,AC108514,CH471058,AB011159,AB014509,AI215133,AK001291,AK292914,BC015025,BT007033 NP_038464,NP_995314,AAY24196,AAX93118,EAX10952,EAX10953,EAX10954,EAX10955,EAX10956,EAX10957,BAA25513,BAA77295,BAF85603,AAH15025,AAP35681,Q53QN5,Q53S94,Q53Y35,Q9Y2A7,ABM84471,ABM84735 Hs.603732 GDB:9958282 FLJ11291|HEM2|KIAA0587|MGC8981|NAP1|NAP125 protein-coding 1323803 NCKAP1L NCK-associated protein 1-like The protein encoded by this gene is a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells, while hematopoietic protein 2 is preferentially expressed in brain, heart, liver and testis. The function of the HEM1 product has not been established but it is thought to play an essential role in oogenesis. 1580863 1932118,17696648,16417406,16344560,12477932,11337467,7643388 3071 NM_005337,AC025570,AC068789,AC079313,CH471054,CQ834718,AI924363,AU100069,AW575485,BC001604,BC064997,BC084547,BC093769,BC093771,CR600496,DA820115,M58285 NP_005328,EAW96786,EAW96787,CAH05574,AAH01604,AAH64997,AAH84547,AAH93769,AAH93771,AAA35964,P55160,Q52LW0,Q5XG97,Q6P1M2,Q9BV52 Hs.182014 GDB:136424 HEM1 hematopoietic protein 1 protein-coding 1322714 NCKIPSD NCK interacting protein with SH3 domain The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing occurs in this locus and two transcript variants encoding distinct isoforms have been identified. 1580863 10619843,10648423,17537434,17398099,16253999,16189514,15324660,14559906,12477932,11509578,11278500,11241789,11157975 51517 NM_184231,AB069981,AB069982,AC141002,CH471055,NM_016453,AF178432,AF303581,AJ242655,AY453794,BC006255,BC016052,BC026280,CR609217,CR624793 NP_057537,NP_909119,BAB63204,BAB63205,EAW64915,EAW64916,EAW64917,EAW64918,AAF35985,AAK09094,CAB65089,AAR83735,AAH16052,AAH26280,Q6GU34,Q6SPF3,Q8TC10,Q9NZQ3 Hs.655006 AF3P21|DIP|DIP1|MGC23891|ORF1|SPIN90|WASLBP|WISH protein-coding 1342988 NCL nucleolin Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. 1580863 2737305,16403913,12944467,18321972,18292223,17767916,17692122,17674968,17626252,17535846,17255095,17130237,17081983,16982033,16964243,16889753,16777843,16751805,16698799,16601700,16582966,16571724,16508016,16341674,16329155,16245305,16212410,16156786,16153722,16135517,15823039,15815621,15492114,15371412,15302935,15044383,14702039,14679209,14638862,14623863,12804115,12634843,12565890,12559966,12506112,12477932,12429849,12388589,12324461,12185196,12147681,12138209,12096904,12027446,11438699,11162542,11115514,10983978,10660576,10503877,10393184,9918513,9822633,9512561,9388266,8663258,8620867,8567649,8530516,8321232,8065311,7993898,7642087,3409881,2394707,1860869,14978336,16189514,9642267,10967121,14559993,2192260,12427757,15674325,15173179 4691 NM_005381,AC017104,CH471063,M60858,AK000221,AK000250,AK001314,AK091742,AK095897,AK122805,AK127608,AK128584,AY320411,BC002343,BC006494,BC006516,BM761058,BQ001029,CR595829,CR603186,CR605221,CR609096 NP_005372,AAY24247,EAW70960,EAW70961,EAW70962,EAW70963,AAA59954,BAC03738,BAC87055,AAH02343,AAH06494,AAH06516,P19338,Q6ZS99,Q9BQ02,Q9UCF0 Hs.79110 GDB:125908 C23|FLJ45706 protein-coding 1343218 NCLN nicalin homolog (zebrafish) 737633,1580863 16381901,15489336,15489334,15257293,15057824,14702039,12477932,11230166,11076863 737633 56926 NM_020170,AC005331,AC011547,CH471139,AK022309,AK125002,AK172848,AL136567,AL365369,BC003076,BC007275,BC008920,BC010064,BC013283,BC019091,BC025926,CR533566,CR601193 NP_064555,AAC27667,EAW69330,EAW69331,EAW69332,EAW69333,EAW69334,EAW69335,BAD18812,CAB66502,CAB96945,AAH03076,AAH07275,AAH08920,AAH10064,AAH13283,AAH19091,AAH25926,CAG38597,Q0JUC3,Q969V3,CAL37888 Hs.657032 protein-coding 1319167 NCOA1 nuclear receptor coactivator 1 The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. 15572661,12917342,9223431,18284209,17429319,17135255,16882880,16775354,16723356,16606617,16269961,15862975,15615775,15572376,15530426,15456935,15313887,15249124,15231721,14757047,14715875,14601091,12954634,12933903,12909012,12569182,12529333,12482985,12477932,12208951,12189208,12163482,12145209,12138096,12118039,12114525,12082103,12039952,12024042,11864604,11831720,11818499,11773079,11704662,11698662,11689423,11514567,11330046,11266503,11250900,11165056,11136553,11113179,11076796,11069927,11050077,11003650,10934189,10848596,10809226,10757795,10722692,10713182,10688660,10660621,10652338,10594042,10567563,10567404,10558993,10508479,10497212,10454579,10449719,10381882,10334993,10334992,9878542,9874563,9832502,9812974,9786846,9782096,9744270,9642216,9575154,9556555,9488734,9445475,9427757,9407140,9328345,9296499,9223281,9171239,9041124,8754792,8616895,7481822,15661163,11574547,15027889,15684378,15256534,12612084,10847592,15184363,15688032,15641800,9346901,10938099,10454563 8648 NM_147223,NM_003743,NM_147233,AC013459,AC093798,CH471053,EF660499,AJ000881,AJ000882,AK226063,AK290019,BC035976,BC111533,BC111534,BE675986,BF975824,CB047008,U19179,U40396,U59302,U90661 NP_671756,NP_003734,NP_671766,AAX93184,EAX00746,EAX00747,EAX00748,ABS29266,CAA04371,CAA04372,BAF82708,AAI11534,AAI11535,AAA64187,AAC50305,AAC50631,AAB50242,Q15788 Hs.709209 GDB:3750415 F-SRC-1|KAT13A|MGC129719|MGC129720|NCoA-1|RIP160|SRC-1|SRC1 protein-coding 732737 NCOA2 nuclear receptor coactivator 2 1580863 15207724,15184363,15072553,14662770,14500758,12970370,12756300,12682292,12676584,12588987,12481024,12477932,12208521,12151000,12145209,12130539,12089346,12082103,12060666,12050280,12024042,11986669,11981034,11971985,11937504,11931740,11818499,11704662,9430642,8670870,18174919,17704997,17081983,16649994,16613851,16410316,15988012,15766871,15731352,15698540,15657427,15641800,15563469,15557560,15231721,11518802,11477071,11266503,11250900,11050077,10944516,10748178,10692587,10617585,10598588,10594042,10478845,10381882,9812974,9717843,9590696,9558366,9111344,14966121,14593076,12810069,12612084,12837248,15684378,14578343,11085509,11514567,9920895,10706629,10454563 10499 NM_006540,AC021558,AC022730,AC084251,AC090731,CH471068,CQ834204,AW504723,BC092442,BC114383,CK141607,EF374064,X97674 NP_006531,EAW86963,CAH05317,AAH92442,AAI14384,ABN46991,CAA66263,Q14CD2,Q15596,Q569J4 Hs.446678 GDB:9958782 GRIP1|KAT13C|MGC138808|NCoA-2|TIF2 protein-coding 1344181 NCOA3 nuclear receptor coactivator 3 The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Two transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. 1580863,1642050 15572661,12917342,9267036,9346901,18313384,18246597,18162290,17927986,17805331,17646391,17574025,17532621,17360478,17223341,17043108,17008696,16964243,16951183,16940181,16923966,16921507,16916939,16760465,16670003,16648476,16458427,16434590,16365010,16298470,16263829,16244359,16227615,16135815,15987430,15900600,15788663,15698540,15677324,15550471,15548698,15448000,15383283,15302935,15289619,15169882,14747462,14691461,14684685,14648706,14645221,14611647,14557830,14503806,12833450,12650696,12602902,12497632,12477932,12145209,12082103,11971985,11929748,11927493,11823864,11780052,11708882,11704662,11477071,11389589,11316771,11279242,11266503,11250900,11161840,11094166,11092404,11087842,11056690,11050174,11050077,10965917,10866661,10681591,10598588,10504300,10490106,9832502,9812974,9727751,9445475,9252329,9238002,9225980,8889548,8758910,7791754,15184363,12612084,10655477,14578343,14966121,15808510,15788656,15723037 1642050 8202 NM_181659,NM_006534,AL021394,AL034418,AL353777,CH471077,AB209863,AF010227,AF012108,AF016031,AF036892,AK289683,BC092516,BC119001,BC122547,BM692321,BU588121,CA450268 Q9Y6Q9,NP_858045,NP_006525,CAB40662,CAC17693,CAI42141,EAW75696,EAW75697,EAW75698,EAW75699,EAW75700,EAW75701,EAW75702,BAD93100,AAC51663,AAC51677,AAC51849,AAB92368,BAF82372,AAH92516,AAI19002,AAI22548,Q0IIN7,Q0VF45,Q569F6,Q59EE8 Hs.697989 GDB:9785804 ACTR|AIB-1|AIB1|CAGH16|CTG26|KAT13B|MGC141848|RAC3|SRC3|TNRC14|TNRC16|TRAM-1|pCIP protein-coding 1348400 NCOA4 nuclear receptor coactivator 4 1580863 15772083,15642480,15489336,15489334,12897377,12881713,12649293,12477932,12068007,11818501,11786418,11256614,11230166,11076863,10517667,10347167,10085091,9892017,9192845,8290261,8187085,15572661,15563469,8643607,15609325,18156210,18091327,17081983,16762319,16713569,16381901,16000324,15805579,8180971,7529046,14966297,12612084,11404460,10318905,9636157,16189514 8031 NM_005437,AL450342,CH471260,AB064669,AK129911,AK130612,AK292480,AL162047,AY425959,BC001562,BC012736,CR595011,CR599220,CR601441,L49399,S71225,X71413,X77548 NP_005428,CAI14477,CAI14478,CAI14479,EAW53686,EAW53687,EAW53688,EAW53689,BAB93520,BAF85169,CAB82390,AAR07952,AAH01562,AAH12736,AAC37591,AAB31551,CAA50536,CAA54673,Q13772,Q5T1E8,Q6TAR0,Q8NI67,Q96E88,CAL38205,ABM82524,ABM85718 Hs.643658,Hs.709644 GDB:9954453 ARA70|DKFZp762E1112|ELE1|PTC3|RFG protein-coding 1354049 NCOA4P nuclear receptor coactivator 4 pseudogene 326605 NG_002594,AL391261 pseudo 1317043 NCOA5 nuclear receptor coactivator 5 This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Two alternatively spliced transcript variants for this gene have been described. However, the full length nature of one of the variants has not been determined. 1580863 17081983,16094384,15146197,15073177,12477932,11780052,11113208,10997877 57727 NM_020967,AL035662,AL162458,CH471077,CS185596,AB046857,AF230533,AF470686,BC056872,BC140836,BC151133,CN369226 NP_066018,CAI42971,CAI42972,CAH74052,EAW75764,EAW75765,EAW75766,EAW75767,EAW75768,EAW75769,EAW75770,CAJ42777,BAB13463,AAG36793,AAO33457,AAI40837,AAI51134,Q5JY17,Q6PGQ9,Q9HCD5 Hs.654991 GDB:11506316 CIA|bA465L10.6 protein-coding 735677 NCOA6 nuclear receptor coactivator 6 The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. The encoded protein may also act as a general coactivator since it has been shown to interact with some basal transcription factors, histone acetyltransferases, and methyltransferases. 1580863 11443112,11302752,10567404,18462265,18263591,15764585,15302935,14960326,14734562,14645241,12724417,12519782,12482968,12477932,12215545,12189208,12168954,12153040,12039952,11780052,11773444,11704680,11517327,10866662,10823961,10788465,10681503,8758910,8724849,7536696,11912212,11158331,10497212,10847592,14578865,14638867 23054 NM_014071,AL049709,AL109824,CH471077,AF128458,AF171667,AF177388,AF208227,AF245115,AI498955,AK027040,BC035676,BC047886,BC069829,BC114613,BC136272,CR590952,D80003,L37706 NP_054790,CAB92721,EAW76254,EAW76255,AAF37003,AAF71829,AAF13595,AAF16403,AAF78480,AAI14614,AAI36273,BAA11498,Q14686,Q1RMZ3,Q5JX63 Hs.368971 GDB:9785062 AIB3|ANTP|ASC2|HOX1.1|HOXA7|KIAA0181|NRC|PRIP|RAP250|TRBP protein-coding 1603583 NCOA7 nuclear receptor coactivator 7 10395741,11256614,17391516,17079118,16381901,16344560,15489336,15489334,14702039,14574404,12880961,12477932,12139968,11971969,11230166,11076863,8197458 135112 AJ420542,AK094706,AK127512,AL832621,AL832628,AL834442,AY364254,BC009399,BC033612,BC036461,BC039853,BC071782,AF493978,NM_181782,NM_001122842,AL035689,AL078594,AL136163,CH471051,AB074156,AB074157,BX537385,DA770225 AAM27392,BAC04402,CAD90002,CAD89948,CAD39102,AAQ76813,AAH09399,AAH33612,AAH36461,NP_861447,NP_001116314,CAI42387,CAI42388,CAI42389,CAI42390,CAI42397,CAI20069,CAI20070,CAI20071,CAI20072,CAI42378,CAI42379,CAI42380,CAI42381,CAI42382,CAI42383,CAI42384,CAI42385,CAI42386,EAW48130,EAW48131,EAW48132,EAW48133,EAW48134,BAE45731,BAE45732,AAH71782,CAD97627,Q0JRW8,Q0JSY0,Q0JT03,Q0JTV5,Q0JUN8,Q3LID7,Q3ZTS4,Q5JVK8,Q5JVK9,Q5JVL0,Q5JVL1,Q5JVL2,Q5TF96,Q5TF97,Q5TF98,Q6PK00,Q86TE3,Q8N3C8,Q8N4U9,Q8NI08,CAL37773,CAL38057,CAL38361,CAL38384,CAL38746 Hs.171426 ERAP140|ESNA1|FLJ45605|MGC88425|Nbla00052|Nbla10993|dJ187J11.3 protein-coding 730890 NCOR1 nuclear receptor co-repressor 1 This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined. 1580863 11430826,11331609,11113190,11013263,10944117,10940306,10898795,10882117,10734313,10675041,10640275,10573424,10470851,10444336,10441327,10441075,10336495,10077563,9724795,9702189,9694793,9531570,9482666,9405624,9111334,8948627,10809664,11867749,11533236,15256534,14593076,15333839,15729358,15531890,12738788,15829968,15175761,12590135,14525983,14667819,7566114,17768398,17630505,17081983,17073437,16964243,16914745,16849648,16730330,16713569,16373395,16216492,16195251,16141343,16024779,15878880,15802375,15788656,15761026,15695367,15598662,15561719,15377655,15302935,15231748,15001550,14527417,12904255,12890497,12861000,12648520,12634383,12628926,12477932,12466959,12150997,12149646,12145334,12089345,12077342,12011091,12007404,11997503,11931768,11903058,11877444,11804585,11748154,11509652,11486045,11466315,11441023 9611 AL137641,BC026028,BC035748,BC050594,BC056862,BC058511,BC068996,BC107772,BC142648,CR625140,NM_006311,AC002553,AC005971,AC064862,CH471222,AB028450,AB028451,AB028970,AF044209,AF087856,AF303584,AF303585,AF303586 CAB70854,AAH26028,AAH50594,AAH56862,AAH58511,AAH68996,AAI07773,AAI42649,O75376,Q05CG3,Q3B773,Q6NTH1,Q6PDT8,Q6PGR4,Q7Z516,Q86W52,Q86YY0,Q86YY1,Q86YY2,Q9NSZ0,Q9UPY1,Q9UPY2,NP_006302,EAX04492,EAX04493,EAX04494,EAX04495,EAX04496,BAA83818,BAA83819,BAA82999,AAC33550,AAP97166,AAO32940,AAO32941,AAO32942 Hs.462323 GDB:9957794 KIAA1047|MGC104216|N-CoR|TRAC1|hCIT529I10|hN-CoR protein-coding 1321111 NCOR2 nuclear receptor co-repressor 2 1625347,1580863 10713164,15016912,7566127,10097068,18052923,17991421,17383980,17081983,16712523,16480812,16453284,16373395,15843525,15802375,15713534,15635693,15632172,15319284,15302935,15300237,15146197,14715875,14690607,12840002,12771131,12589049,12554770,12477932,12441355,12388540,12242670,12139968,12107410,12011091,11997503,11972046,11931768,11929749,11929748,11867749,11845213,11804585,11739383,11726519,11585900,11559707,11509665,11435691,11331609,11134019,11113190,10944117,10809664,10777532,10406466,10395741,10077563,9765306,9751500,9702189,9267036,9225980,8889548,8813722,7566114,10640276,10640275,14527417,12628926,12502735,11509652,11013263,11430826,11404076,10898795,11466315,10644367,14982881,9256429,11959865,14593076,11923464,10869435,12970571,15729358,15531890,12738788,15494311,9486654,15175761 1625347 9612 BU172348,BX390462,CA396349,CN423531,CX873148,S83390,U80750,NM_001077261,NM_006312,AC069261,AC073592,AC073916,CH471054,AB209089,AF113003,AF125672,AK127788,AY965853,BC004326,BC020427,BM687540 AAB50847,AAB91446,Q56D06,Q59GM0,Q6ZS20,Q9BT61,Q9Y618,NP_001070729,NP_006303,EAW98448,EAW98449,EAW98450,EAW98451,EAW98452,EAW98453,BAD92326,AAD20946,AAD22973,BAC87136,AAX77219,AAH04326 Hs.137510 GDB:9957796 CTG26|SMRT|SMRTE|SMRTE-tau|TNRC14|TRAC-1|TRAC1 protein-coding 1348186 NCR1 natural cytotoxicity triggering receptor 1 1580863 9730896,15654827,18275895,17972960,17875681,17056548,16690951,16262248,15728472,15657183,15489334,15328155,14754506,14635045,14504081,12960161,12951052,12731048,12477932,11907104,10049942,9625766,9314561 9437 AJ006121,AJ006122,AJ006123,AY346373,BC064806,CU151839,AJ001383,NM_004829,AC011476,AC011501,CH471135 CAA06872,CAA06873,CAA06874,AAQ54328,AAH64806,O76036,EAW72312,CAQ09212,CAQ09213,CAQ09214,CAQ09215,CAQ09216,CAQ09217,CAA04714,NP_004820,EAW72308,EAW72309,EAW72310,EAW72311 Hs.97084 GDB:9956702 CD335|LY94|NK-p46|NKP46 protein-coding 1342633 NCR2 natural cytotoxicity triggering receptor 2 10049942,18077718,17536787,16210654,15941912,15728472,15657183,14707061,14574404,12791260,12731048,12653925,12645956,12351833 9436 NM_004828,AL136967,CH471081,AJ010099,AJ010100 NP_004819,CAC09452,CAC09453,CAC09454,EAX04039,EAX04040,EAX04041,EAX04042,CAB52289,CAB52290,O95944,AAI66647 Hs.194721 GDB:9956699 CD336|LY95|NK-p44|NKP44|dJ149M18.1 protein-coding 1353948 NCR3 natural cytotoxicity triggering receptor 3 Natural cytotoxicity receptors (NCRs), such as NCR3, are activating natural killer (NK) cell receptors that belong to the immunoglobulin (Ig) superfamily. NCR3 is expressed in all resting and activated NK cells and forms a complex with CD3-zeta (CD3Z, or CD247; MIM 186780) (Sato et al., 2001 [PubMed 11782277]).[supplied by OMIM] 1580863 15657183,15489334,14656967,14635045,14574404,12731048,12486241,12477932,11895890,11782277,10562324,10202016,9367684,8824804,10941844,7590964,18275895,18157817,18055229,17436233,17208487,16690951,16362817,16272287,15972650,15784725,15728472 259197 AB055881,AF031136,AF031137,AF031138,AJ223153,BC018752,BC052582,NM_147130,AF129756,AL662801,AL662847,BA000025,BX248519,BX927320,CH471081,CR753892,AL929587,CR759886,CR759905,CR942185,Y14768 AAH52582,O14931,Q05D23,CAA75064,CAA75065,CAA75066,CAA75067,CAA75068,BAB78472,AAB86578,AAB86579,AAB86580,CAB54004,AAH18752,NP_667341,AAD18088,CAI18302,CAI18303,CAI18304,CAI18305,CAI17688,CAI17689,CAI17690,CAI17691,CAI18661,CAI18662,CAI18663,BAB63393,CAI41953,CAI41954,CAI41955,CAI41956,CAQ10009,CAQ10010,EAX03439,EAX03440,EAX03441,CAQ06951,CAQ06952,CAI18660,CAQ07224,CAQ07225,CAQ07226,CAQ07227,CAQ08772,CAQ08773,CAQ08774,CAQ08775,CAQ07727,CAQ07728,CAA75063 Hs.509513 GDB:11509150 1C7|CD337|LY117|NKp30 protein-coding 1351739 NCSTN nicastrin This gene encodes a Type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Alternatively spliced transcript variants have been described, but their full-length nature has not been determined. 1358751,1580863 12297508,15274632,10993067,18201567,17192785,17123647,17081065,16938437,16423463,16303145,15975090,15711015,15591316,15567563,15489334,15322084,15249634,15210705,15189355,15157994,15146197,14664923,14642438,14602727,14593096,14572442,12917438,12857757,12821663,12815056,12763021,12754519,12740439,12736250,12692078,12679784,12660785,12644462,12643545,12603837,12477932,12471034,12419494,12198112,12130643,12054507,12048259,12044882,12032140,11992262,11943765,11726200,11483961,11396676,11295540,9039502,15257293,12021275,15322109 1358751 23385 AF240468,AY359120,BC047621,BC100024,CN429672,CR596089,CR605263,D87442,NM_015331,AL445230,CH471121 EAW52722,AAG11412,AAQ89478,AAH47621,BAA13383,Q5T207,Q5T208,Q92542,NP_056146,CAI15006,CAI15007,CAI15008,CAI15009,CAI15010,CAI15011,CAI15012,CAI15013,EAW52720,EAW52721 Hs.517249 APH2|KIAA0253|RP11-517F10.1 protein-coding 1320890 NDC80 NDC80 homolog, kinetochore complex component (S. cerevisiae) HEC is one of several proteins involved in spindle checkpoint signaling. This surveillance mechanism assures correct segregation of chromosomes during cell division by detecting unaligned chromosomes and causing prometaphase arrest until the proper bipolar attachment of chromosomes is achieved.[supplied by OMIM] 1580863 18455984,17822787,17195848,17129782,16565220,16189514,15964272,15931389,15824131,15548592,15502821,15489334,15239953,15235793,15133482,15062103,14978040,14654001,14602875,12477932,12386167,9315664,12351790,10779342,10409732,9295362,14699129,15713649,15961401,16732327,15504738,15371340 10403 NM_006101,AP005061,AP005136,CH471113,AF017790,AK289396,BC005239,BC010171,BC035617,CR609890 NP_006092,EAX01696,EAX01697,AAB80726,BAF82085,AAH05239,AAH35617,O14777,Q05DQ6,ABM81691,ABM84854 Hs.414407 HEC|HEC1|KNTC2|TID3|hsNDC80 kinetochore associated 2 protein-coding 1348797 NDE1 nudE nuclear distribution gene E homolog 1 (A. nidulans) 633389,1580863 16682949,18469341,18178387,17600710,17185386,16964243,16291865,15797709,15616553,15592455,15489334,15324660,14702039,12556484,12477932,12427674,12032826,11163258,10940388,14623284 633389 54820 NM_017668,AC026401,AF001548,CH471226,AF124431,AK000108,AK025815,AK127927,BC001421,BC033900 NP_060138,EAW53931,EAW53932,EAW53933,BAA90949,AAH01421,AAH33900,Q9NXR1 Hs.655378 FLJ20101|HOM-TES-87|NUDE|NUDE1 protein-coding 1352165 NDEL1 nudE nuclear distribution gene E homolog (A. nidulans)-like 1 This gene encodes a thiol-activated peptidase that is phosphorylated in M phase of the cell cycle. Phosphorylation regulates the cell cycle-dependent distribution of this protein, with a fraction of the protein bound strongly to centrosomes in interphase and localized to mitotic spindles in early M phase. Overall, this protein plays a role in nervous system development. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 12812986,16682949,18469341,18400883,18347064,17997972,17600710,17494871,17060449,16291865,16203747,16189514,16005531,15728732,15572112,15489334,15342556,14970193,14962739,14702039,12796778,12621583,12556484,12506198,12477932,11163260,11163259,11163258,10737800,9110174,8619474 81565 NM_001025579,NM_030808,AC026130,CH471108,AA232258,AF038203,AF182078,AF217798,AK056014,AK095179,AK123802,AK128514,AL832648,AW795298,AY004871,BC026101,BP201698,CR600535,CR607599,DN993952,R94775 NP_001020750,NP_110435,EAW90051,EAW90052,AAG43425,AAF24516,BAC85698,CAD89957,AAF97497,AAH26101,Q6ZW10,Q9GZM8 Hs.372123 DKFZp451M0318|EOPA|MITAP1|NUDEL nude nuclear distribution gene e homolog like 1 (a. nidulans) protein-coding 1320732 NDFIP1 Nedd4 family interacting protein 1 The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. 1580863 12761501,16344560,16303743,15489334,14702039,12477932,11748237,11042109 80762 AC011401,CH471062,AA496123,AB097010,AB097037,AI929639,AK075495,AK075524,AK124884,AL832993,AY192728,BC004317,NM_030571,BX411356,DA236494 NP_085048,EAW61888,EAW61889,BAC77363,BAC77390,BAC11652,BAC11670,CAH56294,AAP13460,AAH04317,Q9BT67 Hs.9788 MGC10924|N4WBP5 protein-coding 1320205 NDFIP2 Nedd4 family interacting protein 2 631861 12761501,15489334,15252135,15057823,14702039,12796489,12477932,12050153,10574461 631861 54602 NM_019080,AL136442,AL355603,CH471093,AB032991,AB097019,AB097028,AB097029,AB097030,AB097031,AK001723,AK098708,BC021988,BC026126,CR602145 NP_061953,EAW80599,BAA86479,BAC77372,BAC77381,BAC77382,BAC77383,BAC77384,BAA91863,AAH21988,AAH26126,Q5VY76,Q9NV92 Hs.525093 FLJ25842|KIAA1165|N4wbp5a protein-coding 1321479 NDN necdin homolog (mouse) This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. 1580863,1601480 9354807,9302265,1394972,17353931,9630521,18272695,15978586,15489334,15247330,14593116,12913118,12716928,12477932,12414813,12198120,11959851,11813259,11439287,10965153,10915798,10347180,9422723 1601480 4692 NM_002487,AB007828,AC124309,AF001013,CH471151,AK129654,BC008750,CR590044,CR590944,CR591182,CR593341,CR595233,CR595786,CR596254,CR596560,CR597888,CR598564,CR599213,CR601504,CR609284,CR609537,CR609863,CR611314,CR611976,CR614412,CR616323,CR618136,CR618583,CR618894,CR619220,CR619365,CR621492,CR622500,CR626299,U35139 NP_002478,BAA22660,EAW57610,AAH08750,AAB39469,Q99608 Hs.50130 GDB:6155802 HsT16328 protein-coding 1319419 NDNL2 necdin-like 2 This intronless gene encodes a member of the MAGE superfamily. The encoded protein is 76% identical to the mouse mage-g1 protein. 18086888,15635413,15489334,15302935,14702039,12477932,11782285,14593116 56160 NM_138704,AC061965,AF320911,CH471205,AF490510,AK056957,AK074138,BC035458,BC041166,BC053999,CR592061,CR592806,CR594488,CR602140,CR602205,CR603768,CR605030 NP_619649,AAG38607,EAW51515,AAM08357,BAB71325,BAB84964,AAH41166,AAH53999,Q96MG7 Hs.656412 GDB:10796511 HCA4|MAGEG1|MAGEL3|NSE3|NSMCE3 protein-coding 1318271 NDOR1 NADPH dependent diflavin oxidoreductase 1 10625700,12871939,12871938,12631275,12477932,9373149,8125298,7569905 27158 XM_001716570,AL929554,BX255925,CH471090,AF199509,AK026089,AK074403,AK225995,AK290026,AY077845,BC015735,BC078668,NM_014434,BC093782,BC111943 NP_055249,XP_001716622,CAH72886,CAI17259,CAM24151,EAW88366,AAF25205,BAF82715,AAL77754,AAH15735,AAH93782,AAI11944,Q9UHB4,ABM83155,ABM86355 Hs.555933 MGC138148|NR1|RP11-350O14.11|bA350O14.9 protein-coding 1343189 NDP Norrie disease (pseudoglioma) NDP is the genetic locus identified as harboring mutations that result in Norrie disease. Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness that is caused by a vascularized mass behind each lens due to a maldeveloped retina (pseudoglioma). 1600222,1580863 8298646,8252044,10484772,18387409,17955262,17334993,17325173,17296899,17158104,17050281,16714476,16381901,16052165,15799735,15609522,15489336,15489334,12546446,12477932,12145535,11748312,11337749,11322656,11285060,11076863,9407136,9382152,8990009,8946107,8589700,8268931,8240113,8069314,7993212,7835440,7795608,7627181,7558002,1307245,1303264,1303256,1303236,1303235,9143918,9143917 1600222 4693 NM_000266,AL034370,CH471141,BC029901,BE139596,CR594721,CR612479,X65724,X65882 NP_000257,CAA22268,EAW59376,AAH29901,CAA46639,CAA46713,Q00604,CAL37470 Hs.522615 GDB:119449 EVR2|FEVR|ND|NORRIN protein-coding 1316419 NDRG1 N-myc downstream regulated gene 1 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. Mutation in this gene has been reported to be causative for hereditary motor and sensory neuropathy-Lom. 1580863 17220478,9605764,18377423,17909017,17569115,17488873,17316623,17081983,17069588,16964243,16920733,16832411,16778198,16707596,16622835,16421571,16344560,16314423,16288478,15922294,15867226,15489334,15461589,15377670,15302935,15251988,15247272,14966915,14702039,12962147,12872253,12767066,12702552,12493777,12483528,12477932,12432451,12429530,12046693,11936845,11835375,11352569,11237058,11006124,10831399,10676663,10395947,9766676,9373149,9251681,8939898,8841199,8125298,15582665,16189514,15607035 10397 NM_006096,AF192304,CH471060,AF004162,AF039944,AF147402,AF230380,AK091147,AK091269,AK095649,AK096562,AK124709,AK126924,AK129867,AK130985,AK223542,AU141826,AY277597,BC003175,BC006260,BX648361,CR456842,CR600627,CR616328,CR620202,CR626382,D87953,X92845 NP_006087,EAW92164,EAW92165,EAW92166,AAC13419,AAF71305,BAC04597,BAD97262,AAQ18036,AAH03175,AAH06260,CAG33123,BAA13505,CAA63430,Q53EU7,Q597H1,Q6IBG2,Q8N959,Q92597,Q9BRH7,ABM83878,ABM87198 Hs.372914,Hs.618002 GDB:9958844 CAP43|CMT4D|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5 protein-coding 732058 NDRG2 NDRG family member 2 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may play a role in neurite outgrowth. This gene may be involved in glioblastoma carcinogenesis. 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. 1580863 11936845,18209490,17935612,17911180,17888401,17688410,17470364,17109818,17050536,16381901,16103061,15670829,15526377,15489336,15489334,15461589,15207261,15067004,14702039,14572661,12845671,12477932,11978393,11352569,11230166,11076863,10831399,10574462,15582665 57447 NM_201537,NM_016250,NM_201535,NM_201538,NM_201539,NM_201541,NM_201540,AL161668,AY028430,CH471078,AB033074,AF087872,AF159092,AF304051,AK024521,AK057843,AK057847,AK090657,AK096214,AK096999,AK098388,AK130029,AL136574,AW163815,BC010458,BC011240,BC013209,BC093038,BG818977,BI759006,BX247987,BX248031,NM_201536,BX647091,BX647748,CB153966,CR596015,CR596981,CR597040,CR598346,CR601715,CR603144,CR607901,CR609913,CR611368,CR612684,CR620953,CR624613,CR749252 NP_963294,NP_963831,NP_057334,NP_963293,NP_963832,NP_963833,NP_963835,NP_963834,AAK50340,EAW66422,EAW66423,EAW66424,EAW66425,EAW66426,EAW66427,EAW66428,EAW66429,EAW66430,BAA86562,AAM10500,AAD43131,AAL08624,CAB66509,AAH10458,AAH11240,AAH93038,CAD62321,CAD62350,CAH18108,Q0JVB1,Q8TDR6,Q9UN36,CAL37549 Hs.525205 GDB:11500614 DKFZp781G1938|FLJ25522|KIAA1248|SYLD n-myc downstream-regulated gene 2 protein-coding 1315300 NDRG3 NDRG family member 3 1580863 11406283,11936845,14702039,11780052,11352569,10831399 57446 NM_022477,NM_032013,AL031662,AL132768,CH471077,AB044943,AF308609,AK023618,AK027665,AK128068 NP_071922,NP_114402,CAI21399,CAI21401,CAI21461,CAI21463,EAW76109,EAW76110,EAW76111,EAW76112,EAW76113,EAW76114,EAW76115,BAB20067,AAL08807,BAB14620,BAB55277,Q5TH30,Q5TH31,Q9UGV2 Hs.437338 GDB:11500616 FLJ13556 protein-coding 1353588 NDRG4 NDRG family member 4 This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. 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. 1580863 11352569,11978393,16408304,16381901,15489336,15489334,14702039,12755708,12477932,12168954,11936845,11230166,11076863,10574461,9110174,8619474 65009 NM_020465,NM_022910,AB044947,AC009118,CH471092,AB021172,AB033006,AB044944,AB044945,AB044946,AF007138,AF308608,AK055038,AK055148,AK124005,AK126574,AK126729,AK131248,AL136584,BC001527,BC011795,CF552009,CR590492,CR601890,CR623118,CR936733 Q9ULP0,NP_065198,NP_075061,BAB20071,BAB20072,BAB20073,EAW82977,EAW82978,EAW82979,BAB20288,BAA86494,BAB20068,BAB20069,BAB20070,AAL08806,BAC85750,BAC86600,BAD18428,CAB66519,AAH11795,Q0JTG1,Q6ZVW0,CAL37972,CAL38201 Hs.322430 GDB:11506318 DKFZp686I1615|FLJ30586|FLJ42011|KIAA1180|MGC19632|SMAP-8 protein-coding 733822 NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 1580863 15489334,14966466,12634318,12590599,12477932,11792394,10758005,10196134,9744796,9230113,7601448,9915799 3340 NM_001543,AC008472,AC011383,CH471062,AB209107,AK292448,BC012888,BC015828,U17970,U18918,U18932,U36600 NP_001534,EAW61720,EAW61721,EAW61722,BAD92344,BAF85137,AAH12888,AAA67765,AAA75281,AAC27354,P52848,Q59GK2 Hs.222055 GDB:593916 HSST|NST1 protein-coding 1312297 NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 1580863 9601056,16343444,15489334,12634318,12477932,12045103,10758005,10466727,9915799 8509 NM_003635,AC022400,AF042084,CH471083,AB208870,BC018681,BC035711,BC110588,BC110589,CR625829,U36601 NP_003626,AAB97086,EAW54525,EAW54526,BAD92107,AAH18681,AAH35711,AAI10589,AAI10590,AAC27120,P52849,Q8WV68 Hs.654758 GDB:9958929 HSST2|MGC129697|MGC129705|NCST2|NST2 protein-coding 1322156 NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 15815621,15489334,12975309,12477932,11087757,9915799,9847074,6230352 9348 NM_004784,AC096762,AC108201,AC110999,AC116639,CH471057,AF074924,AF076605,BC034037,BC109309,BC109310 NP_004775,AAY41001,AAY41056,EAX06313,AAD15978,AAD46061,AAI09310,AAI09311,O95803 Hs.480596 GDB:9956036 MGC130028|MGC130029 protein-coding 1315201 NDST4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 1580863 12477932,11087757 64579 NM_022569,AC093656,AC097519,AC109821,AC110777,CH471057,AB036429,AK289670,BC012326,BC113075 NP_072091,EAX06309,BAB18535,BAF82359,AAI13076,Q2KHM8,Q9H3R1,AAI56697 Hs.591700 protein-coding 1350497 NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. 1580863 9878551,17209039,16729965,17262856,15854127,15489334,15038604,12477932,12084895,11937507,10330338,10200266,9224902,8938439 4694 CH471161,BC000266,BQ680674,CR456889,U54993,X81900,NM_004541 NP_004532,EAW89840,AAH00266,CAG33170,AAD00084,CAA57489,O15239,Q6IBB5 Hs.534168 GDB:3801873 CI-MWFE|MWFE|ZNF183 protein-coding 1351390 NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa The protein encoded by this gene belongs to the complex I 42kDA subunit family. Mammalian complex I is the first enzyme complex in the electron transport chain of mitochondria. It is composed of 45 different subunits. This protein is a component of the hydrophobic protein fraction and has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. 1580863 9878551,16806233,15489334,14702039,12665801,12477932,10330338,8088812 4705 NM_004544,AC013469,AC114750,CH471063,AB209440,AF087661,AF087854,AF453834,AK091719,AK290778,BC003417,BC031332,BI551914,CR593117,CR596275,CR596387,CR600293,CR601854,CR612037,CR615043,CR616074,CR619591,CR621636,CR624594,CR626638 NP_004535,AAY14737,AAX93150,EAW71172,EAW71173,EAW71174,EAW71175,BAD92677,AAD09755,AAP97164,AAL50984,BAF83467,AAH03417,AAH31332,O95299,Q53QE8,Q53SW4,Q59FM0,Q7Z518,Q8N1B9,Q8WXC9,ABM81937,ABM85117 Hs.277677 GDB:9785808 CI-42KD|MGC5103 protein-coding 1353803 NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa 1580863 18306244,15489334,12665801,12611891,12477932,12381726 126328 NM_175614,AC024592,AC104532,CH471139,CS072484,AI125604,AJ539081,AK127692,AY726561,BC069045,BI160094,BQ671956,CR602109 NP_783313,EAW69131,EAW69132,EAW69133,CAI93622,CAD62165,BAC87088,AAH69045,Q86Y39 Hs.406062 B14.7 protein-coding 1603389 NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 10830904,12857734,15489334,12477932,10931946,10409428,9827566,9373149,8125298 55967 NM_018838,AC011598,CH471054,AF112208,AF217092,AK222619,BC005936,BG943528,BM548072,BT007220,U34343 NP_061326,EAW97515,EAW97516,AAF17196,AAF91224,BAD96339,AAH05936,AAP35884,AAB03380,Q15706,Q53HG1,Q53XX0,Q9UI09 Hs.506374 B17.2|DAP13 protein-coding 1606289 NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 10924506,12611891,16826196,12867595,15753091,17209039,18022871,17928352,17823279,17616678,17523870,15489334,15367666,15342556,15231747,12837546,12628925,12477932,12163600,11522775,10931946,10926209,10810093,16189514 51079 NM_015965,AC011448,CH471106,AF261134,AF286697,BC000589,BC009189,BG724220,BP230223,DB450544 NP_057049,EAW84826,AAG44670,AAG28167,AAH00589,AAH09189,Q9P0J0 Hs.534453 B16.6|CDA016|CGI-39|GRIM-19|GRIM19 protein-coding 1320645 NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 1580863,1300048 9878551,17209039,15489334,15341729,12477932,11042152,9763676,9425316,9345899,1518044 4695 NM_002488,AB054976,AC116353,CH471062,AF047185,AF077029,BC003674,CR457016 NP_002479,BAB21453,EAW62031,AAC04270,AAD27762,AAH03674,CAG33297,O43678 Hs.534333 GDB:3842941 B8|CD14 protein-coding 1323447 NDUFA3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 1580863,1300048 9878551,15489334,12477932,11042152 4696 NM_004542,AC012314,CH471135,AF044955,AF070653,AK289489,BC011021,BC022369,BC061644,CR542143 CAG46940,O95167,Q6FGG4,ABM82286,ABM85466,NP_004533,EAW72179,EAW72180,EAW72181,EAW72182,EAW72183,EAW72184,AAD05420,AAD20959,BAF82178,AAH22369,AAH61644 Hs.198269 GDB:3842942 B9 protein-coding 1352480 NDUFA4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 1580863 9878551,16729965,15489334,12690205,12477932,9352085 4697 NM_002489,AC007029,CH236948,CH471073,AF201077,AK024837,AK130950,BC101794,BC101796,BC105295,BG623521,CR407618,CR541716,CR591059,U94586 NP_002480,EAL24297,EAW93630,EAW93631,EAW93632,AAF09253,AAI01795,AAI01797,AAI05296,CAG28546,CAG46517,AAB52726,O00483 Hs.50098 GDB:3842943 CI-MLRQ|FLJ27440|MGC104422|MGC126843|MGC126845|MLRQ protein-coding 1348333 NDUFA4L NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 404215 1601990 NDUFA4L2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 16169070,15489334,14702039,12477932,10931946 56901 NM_020142,AC137834,CH471054,AF164796,AK094275,AK129629,BC011910,CR457176 NP_064527,EAW97002,EAW97003,AAF80760,AAH11910,CAG33457,Q9NRX3 Hs.221447 FLJ26118|NUOMS protein-coding 1606902 NDUFA4P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1 360165 NG_002998,AC114491,AF206638 NDUFA4 pseudo 735249 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble "iron-sulfur protein" (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes. 737635,1580863,1300048 9878551,16189514,15489334,14702039,12853948,12477932,10343126,10330338,9847074,9763677,9048877,9021153 737635 4698 NM_005000,AC073323,AF044418,CH236947,CH471070,AK022209,BC000813,BC020821,BC070236,BC070237,BT006695,CR605370,CR606314,CR607726,CR933664,U53468,U64028 NP_004991,AAQ96854,AAD21526,EAW83587,EAW83588,EAW83589,EAW83590,EAW83591,EAW83592,EAW83593,BAB13985,AAH00813,AAH20821,AAH70236,AAH70237,AAP35341,CAI45962,AAB02224,AAB37259,Q16718,Q5H9R2,Q9HA70 Hs.651219 GDB:3842945 B13|CI-13KD-B|DKFZp781K1356|FLJ12147|NUFM|UQOR13 nadh dehydrogenase (ubiquinone) 1 alpha subcomplex 5 protein-coding 1350399 NDUFA5P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, pseudogene 1 737635 737635 4699 GDB:6054258 1320359 NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 1580863,1300048 9878551,12857734,17209039,15489334,15461802,12477932,10830953,10591208,9763676,9425316,9345899 4700 NM_002490,AL021878,CH471095,AF047182,AK291874,BC002772,CR456529,CR456714,CR541997,CR620155 NP_002481,CAI19953,EAW60489,AAC04267,BAF84563,AAH02772,CAG30415,CAG32995,CAG46794,P56556,Q6FGW0,Q6IBT8,CAK54560,CAK54859,ABM83892,ABM87213 Hs.274416 GDB:3842946 B14|CI-B14|LYRM6|NADHB14 protein-coding 1312128 NDUFA7 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 1580863,1300048 9878551,15489334,12477932,11318610,11042152,9763676,9345899 4701 NM_005001,AC010323,AF050637,AF054178,BC003102,BC107892,CR456915,CR542266 NP_004992,AAD05427,AAC99399,AAH03102,AAI07893,CAG33196,CAG47062,O95182,Q32Q14,Q6FG42,Q6IB89 Hs.333427 GDB:4577585 B14.5a protein-coding 1314815 NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 1580863,1300048 9763677,9760212,9150947,9878551,9860297,15489334,12477932,11349233,10330338 4702 NM_014222,AL162423,CH471090,AF044953,BC001016,BU602971,CR599006,CR615048,CR619176 NP_055037,EAW87511,AAD42056,AAH01016,P51970,Q5VZ50 Hs.495039 GDB:9785806 CI-19KD|CI-PGIV|MGC793|PGIV protein-coding 1316424 NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 1580863,1300048 8486360,9878551,11112787,17353931,17209039,16806233,15489334,12477932,8012384,1832859 4704 L04490,BC111546,CR592695,CR600965,CR603933,CR606290,CR618831,CR623146,NM_005002,AC005832,CH471116,X76665,AF050641,AK291067,BC003351,BC009311,BC015837 AAA36350,Q16795,Q9BTT5,AAI11547,NP_004993,EAW88837,EAW88838,EAW88839,CAA54099,AAD42055,BAF83756,AAH03351,AAH09311,AAH15837 Hs.75227 GDB:682150 MGC111043|NDUFS2L protein-coding 1349430 NDUFA9P1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 10978293 266625 NG_002366,AF196991,AL079295 GDB:11510574 dJ106I20.2 pseudo 1313754 NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 1580863,1300048 9878551,10234612,18230186,15489334,12882974,12477932,10493829,9763677,1907568 4706 NM_005003,AC002400,AC008870,CH471145,AF087660,BC058920,BI603093,CR609167,EF036490 NP_004994,AAC05814,EAW55815,EAW55816,AAD23566,AAH58920,ABO65076,O14561 Hs.189716 GDB:9785812 ACP|FASN2A|MGC65095|SDAP protein-coding 1314685 NDUFAF1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 The NDUFAF1 gene encodes the human homolog of a Neurospora crassa Cia30 protein involved in the assembly of complex I.[supplied by OMIM] 1580863 11935339,17557076,17383918,17344420,16218961,15489334,12477932,10810093,9769214,17353931,16189514 51103 NM_016013,AC087721,CH471125,AF151823,BC000780,CR605439,CR616483 NP_057097,EAW92487,EAW92488,EAW92489,AAD34060,AAH00780,Q9Y375 Hs.106529 CGI-65|CGI65|CIA30 protein-coding 1604552 NDUFAF2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. 17383918,16200211,15774466,15489334,12477932 91942 NM_174889,AC008498,AC022445,CH471123,AB183433,AF087990,AI352161,AK026051,AK291296,BC001753,BC033965,BC070357 NP_777549,EAW55008,BAD91205,BAF83985,AAH01753,AAH33965,Q8N183 Hs.591757 B17.2L|FLJ22398|MMTN|NDUFA12L|mimitin protein-coding 1350721 NDUFB1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa 1580863 9878551,16189514,15489334,12477932,11042152,9763677,9653160,9425316 4707 NM_004545,AL121773,CH471061,AF050638,BC009691,BC104672,BC126232,BC126234,BM052981,BX476462 NP_004536,EAW81476,EAW81477,EAW81478,EAW81479,AAD42054,AAH09691,AAI04673,AAI26233,AAI26235,A0AV68,O75438,Q3MHU6 Hs.183435 GDB:4577528 CI-SGDH|MNLL protein-coding 1321883 NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa 1580863,1300048 9878551,14557246,16537434,15489334,15342556,12477932,11157797,11042152,9763677 4716 NM_004548,AC005363,AE006640,AF088995,CH471112,AF044954,AF067169,AF088991,AK291876,BC005829,BC007509,BP319067 NP_004539,AAK61302,AAD16091,EAW85597,EAW85598,AAD05419,AAD32453,AAD08677,BAF84565,AAH05829,AAH07509,O96000,Q96II6,Q96RX5 Hs.513266 GDB:9769177 PDSW protein-coding 1347474 NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 1580863 17292333,15772651,15489334,14702039,12975309,12477932,12381726,10544803 54539 NM_019056,AL513366,CH471164,AF044213,AF134476,AF251063,AK000501,AY359056,BC010665,BC107805,CR457239 NP_061929,CAI41698,CAI41699,EAW59281,EAW59282,AAL32064,AAP97253,AAK34953,BAA91208,AAQ89415,AAH10665,AAI07806,CAG33520,Q7Z4X2,Q9NX14 Hs.521969 ESSS|FLJ20494|MGC111182|NP17.3|Np15|P17.3 protein-coding 2289754 NDUFB11P NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 390239 XR_016211,XR_018146 Hs.647269 pseudo 1317724 NDUFB2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. 1580863,1300048 9878551,15489334,14718445,12690205,12477932,11042152,9847074,9763677 4708 NM_004546,AC006344,CH236950,CH471070,AF050639,AF067166,BC001168,BC063026,CR542121,CR590326,CR610711 NP_004537,AAD43191,EAL24024,EAW83958,EAW83959,EAW83960,EAW83961,EAW83962,AAD05428,AAD32450,AAH63026,CAG46918,O95178,Q9Y6T4 Hs.655788 GDB:4577543 AGGG|CI-AGGG|MGC70788 protein-coding 1321815 NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. See NDUFA2 (MIM 602137).[supplied by OMIM] 1580863,1300048 9878551,16341674,15489334,12477932,11474204,11161814,9425316 4709 NM_002491,AC007272,CH471063,AF035839,AF047183,BC018183,BM848639,CR456924 NP_002482,AAX88972,EAW70233,EAW70234,AAC15590,AAC04268,AAH18183,CAG33205,O43676,Q6IB80,ABM82357,ABM85532 Hs.109760 GDB:9785809 B12 protein-coding 1345244 NDUFB3P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1 11474204 93993 NG_000954,AL356488 GDB:10796978 pseudo 1347557 NDUFB3P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2 11474204 93994 NG_000955,AC009195,AL445930 GDB:10796979 pseudo 1350421 NDUFB3P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3 11474204 93996 NG_000957,AL352979 GDB:10796980 pseudo 1342871 NDUFB3P4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4 11474204 93995 NG_000956,AL135838,AL157871 GDB:10796981 pseudo 1606190 NDUFB3P5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5 12477932,11474204 93997 NG_000958,AL050308 GDB:10796982 pseudo 1316046 NDUFB4 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa The protein encoded by this gene belongs to the complex I NDUFB4 subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 1580863,1300048 9878551,12857734,16806233,15489334,12477932,9653160 4710 NM_004547,AC009289,AC126182,CH471052,AF044957,BC000855,BC034579,BC070285,BF212059,BF978138 NP_004538,EAW79525,AAD05421,AAH00855,AAH34579,AAH70285,O95168,Q8N4D3,ABM82022,ABM85199,ABM85204 Hs.304613 GDB:9769123 B15|CI-B15|MGC5105 protein-coding 1314222 NDUFB5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 1580863,1300048 9878551,15489334,14702039,12477932,9425316 4711 NM_002492,AC090425,CH471052,AF047181,AK055159,BC005271,BC009796,BC017909,BC093071,BG776403,BX648034,CR616403 NP_002483,EAW78385,EAW78386,EAW78387,EAW78388,EAW78389,EAW78390,EAW78391,EAW78392,EAW78393,AAC04266,BAB70865,AAH05271,AAH09796,AAH17909,AAH93071,O43674,Q05D62,Q561V6,Q96NL9 Hs.518424 GDB:9769248 CI-SGDH|DKFZp686N02262|FLJ30597|MGC111204|MGC12314|SGDH protein-coding 1322768 NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863,1300048 12477932,11349233,11042152,10330338,9763677,9760212,7236204,9878551,17209039,17948130,15489334,15164053,14702039 4712 NM_182739,NM_002493,AL353671,CH471071,AF035840,AF067167,AK092649,AK289702,BC009801,BC016708,BC029247,BU952486,CB140469,CR456920 NP_877416,NP_002484,CAH71257,CAH71258,EAW58541,EAW58542,EAW58543,AAC68838,AAD32451,BAF82391,AAH09801,AAH29247,CAG33201,O95139,Q0P6E8,Q5VYT2 Hs.493668 GDB:9769175 B17|CI|MGC13675 protein-coding 1318388 NDUFB7 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. 1580863,1300048 9878551,15489334,12477932,10931946,10830904,10330338,9763677,2302251 4713 NM_004146,AC010527,CH471106,Y15998,AF112200,AF217091,BC002595,BU565399,CR450354,CR610926,M33374 NP_004137,EAW84436,AAF17188,AAF91223,AAH02595,CAG29350,AAA35675,P17568,Q6ICN9,ABM82825,ABM86011 Hs.532853 GDB:9769176 B18|CI-B18|MGC2480 protein-coding 1319298 NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 1580863,1300048 9878551,11256614,17727244,16806233,15489334,15164054,12477932,11230166,11042152,10570959,9763676,9345899,8889548 4714 NM_005004,AL133352,CH471066,Y18944,AF044958,AF077028,AF115968,AK289579,AL080056,BC000466,BC019276,CF127298,CR533490,CR592473 NP_004995,CAH73562,CAH73563,CAH73564,EAW49819,EAW49820,CAB46274,AAD05422,AAD27761,AAP97239,BAF82268,CAB45691,AAH00466,AAH19276,CAG38521,O95169,Q5W145,ABM84212,ABM87617 Hs.523215 GDB:4093100 ASHI|CI-ASHI protein-coding 1343797 NDUFB8P1 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1 9847074 326606 NG_002595,AC005225 pseudo 2289736 NDUFB8P2 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2 729565 NG_007663,AC004686 pseudo 2293159 NDUFB8P3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3 100132286 NG_007868,AC087783 pseudo 1316117 NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 1580863,1300048 9878551,8661098,16189514,16169070,15489334,12477932,11042152,10944468,10737800,10077726,9763677 4715 NM_005005,AC090198,CH471060,AF044956,AF067168,AF261090,AI907018,AK026538,AL136714,BC007672,BQ685604,CR597894,CR598184,CR619949,S82655 NP_004996,EAW92068,AAD42057,AAD32452,AAF99683,CAI46222,AAH07672,AAB46797,Q5JVG7,Q9UQS5,Q9Y6M9 Hs.15977 GDB:4093098 B22|DKFZp566O173|FLJ22885|LYRM3|UQOR22 protein-coding 1353150 NDUFC1 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa 1580863 9878551,15489334,14702039,12477932,11042152,9763677,9653160,9425316 4717 NM_002494,AC024032,AC097376,CH471056,Y16002,AF047184,AF047435,AK023115,AK291147,BC101798,BC107682,BC112061,CR457005 NP_002485,AAY40949,EAX05121,AAC04269,AAC39886,BAF83836,AAI01799,AAI07683,AAI12062,CAG33286,O43677,Q4W5J3,Q6IAZ9 Hs.84549 GDB:9785810 KFYI|MGC117464|MGC126847|MGC138266 protein-coding 1316748 NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa 1580863 9878551,11256614,16381901,15489336,15489334,14702039,12477932,12045112,11230166,11076863,11042152 4718 NM_004549,AP003032,CH471076,AF070652,AF087659,AF087899,AF369951,AF369952,AK022785,AK023013,AK098173,AL050278,BC007323,BX281908,CR533448,CR624128 NP_004540,EAW75046,EAW75047,AAD20958,AAD09754,AAP97198,AAM21294,AAM21295,CAB43379,AAH07323,CAG38479,O95298,Q549M5,Q6FIH8,Q8NI46,CAL37591 Hs.407860 GDB:9785811 B14.5b|NADHDH2 protein-coding 1350002 NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. 1556706,1580863 15824269,16478720,16870178,9878551,15186778,15815621,15489334,12477932,11349233,6439716,1935949,1505218,16189514 1556706 4719 NM_005006,AC007383,CH471063,AK098395,BC004133,BC012068,BC018900,BC022368,BC030833,BQ882763,X61100 NP_004997,AAY15061,EAW70379,EAW70380,AAH12068,AAH22368,AAH30833,CAA43412,P28331,Q9P1A0 Hs.471207 GDB:132062 CI-75Kd|MGC26839|PRO1304 protein-coding 1316107 NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) Mitochondrial complex I (NADH-ubiquinone reductase; EC 1.6.5.3) is the first multimeric complex of the respiratory chain that catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mammalian mitochondrial complex I is an assembly of at least 43 different subunits. Seven of the subunits are encoded by the mitochondrial genome; the remainder are the products of nuclear genes. The iron-sulfur protein (IP) fraction of complex I is made up of 7 subunits, including NDUFS2. See NDUFS1 (MIM 157655).[supplied by OMIM] 1600573,1580863,1300048 9647766,9878551,14749350,12857734,17209039,11112787,9585441,16806233,15489334,15250827,12477932,11220739,9373149,8125298,1832859 1600573 4720 NM_004550,AF183172,AF183173,AL590714,CH471121,AF013160,AF050640,AK222618,BC000170,BC001456,BC008868,CR591073,CR591892,CR593827,CR597109,CR600984,CR601041,CR604019,CR608533,CR612031,CR612832,CR615690,CR618127,CR618225,CR622380,CR626141,CR626795 NP_004541,AAG13809,AAG13808,CAH72148,EAW52625,EAW52626,AAC34362,AAC27453,BAD96338,AAH00170,AAH01456,AAH08868,O75306,Q53HG2,Q5VTW0,Q9HC11,Q9HC12,ABM85013 Hs.173611 GDB:682122 protein-coding 1319736 NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. The iron-sulfur protein (IP) fraction of complex I is made up of 7 subunits. See NDUFS1 (MIM 157655).[supplied by OMIM] 1580863,1300048 9647766,9878551,11112787,16826196,17209039,15489334,15250827,14729820,12477932,11771736,10967146,10931946,9763677,9373149,8125298,1602151 4722 NM_004551,AC104942,AF200954,CH471064,AF067139,AF100743,AK223255,AL135819,BC000617,CR594360,CR600660,CR611803,CR614929 NP_004542,AAG17541,EAW67895,EAW67896,EAW67897,AAC27451,AAD40386,BAD96975,CAB63881,AAH00617,O75489,Q53FM7,Q9UF24,ABM82860,ABM86047 Hs.502528 GDB:682127 protein-coding 1342584 NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), or NADH:ubiquinone oxidoreductase, the first multi-subunit enzyme complex of the mitochondrial respiratory chain. Complex I plays a vital role in cellular ATP production, the primary source of energy for many crucial processes in living cells. It removes electrons from NADH and passes them by a series of different protein-coupled redox centers to the electron acceptor ubiquinone. In well-coupled mitochondria, the electron flux leads to ATP generation via the building of a proton gradient across the inner membrane. Complex I is composed of at least 41 subunits, of which 7 are encoded by the mitochondrial genome and the remainder by nuclear genes. 1580863 16478720,15038602,16870178,14765537,11165261,11181577,9463323,9878551,11112787,18291624,17438127,16094384,15975579,15489334,12944388,12616398,12477932,12206907,12084824,11940698,11860175,9763677,1900194 4724 NM_002495,AC008901,AC024569,CH471123,AF020351,AI001139,BC005270,BU954271,DB489661 NP_002486,EAW54884,AAB87865,AAH05270,O43181 Hs.528222 GDB:682129 AQDQ protein-coding 1322348 NDUFS5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) 1298632,1580863,1300048 9878551,10070614,11112787,16826196,15489334,12477932,11042152,9763677,9653160 1298632 4725 NM_004552,AL606465,CH471059,AF020352,AF047434,AF086268,BC001884,BC093057,CR456904 NP_004543,CAI16711,EAX07286,EAX07287,AAB87866,AAC39878,AAH01884,AAH93057,CAG33185,O43920,Q6IBA0 Hs.632385 GDB:682132 protein-coding 732792 NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. The iron-sulfur protein (IP) fraction is made up of 7 subunits, including NDUFS6. See NDUFS1 (MIM 157655).[supplied by OMIM] 1580863,1300048 9647766,9878551,15372108,17438127,16341674,15489334,15146197,14702039,12477932,9763677 4726 NM_004553,AC026443,CH471102,AF044959,AK022503,BC038664,BC046155,BG706812,BM172493,BM759028,BM764340,CN285188,CR456880 NP_004544,EAX08142,EAX08143,AAC27799,AAH38664,AAH46155,CAG33161,O75380,Q6IBC4 Hs.408257 GDB:682138 nadh dehydrogenase (ubiquinone) fe-s protein 6 protein-coding 1320669 NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. 1580863 9878551,14749350,8938450,15186778,11112787,18435906,17604671,17275378,15317750,15269216,14702039,12477932,11418099,10360771,10330338,9373149,8125298 374291 CR615407,DC340464,AC005329,NM_024407,CH471139,AF060512,AF115969,AK056061,AK091024,AK091046,AK091623,AK092169,AK127759,AK128713,AK222738,AK289671,BC001715,BC005954,BC111517,BX099945,CR606524 O75251,Q6ZQU6,Q6ZS38,Q7LD69,Q8NAS7,Q9H3K5,NP_077718,AAC27669,EAW69507,EAW69508,AAG43130,AAP97240,BAC03820,BAC87117,BAC87587,BAD96458,BAF82360,AAH01715,AAH05954,AAI11518 Hs.211914 GDB:3750112 CI-20KD|FLJ45860|FLJ46880|MGC120002|MY017|PSST protein-coding 1319779 NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 1580863,1300048 9837812,9878551,14749350,15159508,9666055,11112787,12857734,15489334,15250827,14702039,12477932,11955626,9373149,9345899,9116042,8125298 4728 NM_002496,NG_007878,AF038406,AP002807,CH471076,AK002110,AK223114,BC119753,BC119754,CR612937,DB498707,U65579 NP_002487,AAC34273,EAW74685,EAW74686,EAW74687,EAW74688,BAD96834,AAI19754,AAI19755,AAB51776,O00217,Q08E91,Q53G17 Hs.90443 GDB:3750149 TYKY protein-coding 1350455 NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain.[supplied by OMIM] 1580863 8288251,9878551,11112787,16189514,15489334,14702039,12477932,11349233,11337467,11138011,10931946,10080174,9892733,9571201,9373149,8125298,1478657 4723 NM_007103,AF053069,AP003385,AU099299,BC007619,BC008146,BC015645,CR456739,CR590574,CR591738,CR592325,CR597105,CR598406,CR602917,CR603047,CR603191,CR605142,CR605161,CR605492,CR610780,CR611542,CR613110,CR614732,CR616458,CR617636,CR619239,CR620324,CH471076,S52526,Y17379,Y17383,AF053070,AF092131,AK055875,AK223061,CR624895,DB532599,S67973,CR620772 NP_009034,AAC39750,BAD96781,AAH07619,AAH08146,AAH15645,CAG33020,EAW74652,EAW74653,EAW74654,EAW74655,EAW74656,AAB24883,CAA76757,AAC39722,AAD40373,AAB29698,P49821,Q53G70,Q6IBR3,Q96ID4,ABM84162,ABM87565 Hs.7744 GDB:136409 CI-51kD|UQOR1 protein-coding 734286 NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 1580863,1300048 9878551,9570948,18199248,16784756,16508936,16169070,15489334,15450783,12815743,12754703,12477932,12391372,9763677,7607668,7488192,2500970 4729 NM_021074,AP005263,AP005899,CH471113,D64176,D88548,X84421,AF147367,AK291865,BC001632,BC017487,BC071689,CR456928,CR594679,CR595344,CR618099,M22538 NP_066552,EAX01612,BAA11028,BAA25988,BAF84554,AAH01632,AAH17487,CAG33209,AAA75390,P19404,Q6IB76,AAH71689,Q6IPW4,Q6LEN9,Q9UEH5,ABM83519,ABM86739 Hs.464572 GDB:383612 24-kda subunit of mitochondrial nadh dehydrogenase protein-coding 1346097 NDUFV2P1 NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1 7607668 4730 X84682,NG_001161,AC092070 GDB:383621 pseudo 1343620 NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. 1580863 9878551,16849371,15489334,14702039,12600270,12477932,10950923,10830953,10508479,9344673,8889548,8443212 4731 NM_021075,NM_001001503,AB038163,AP001629,CH471079,BC033766,BC054016,BF311986,BI829092,BU629860,CF123536,CR542174,CR542190,CR593887,CR607646,CR613268,CR616335,X99726,X99727,X99728,AK056041,AK289586,AY173949,BC021217 NP_066553,NP_001001503,BAB13732,AAH33766,AAH54016,CAG46971,CAG46987,P56181,Q2VYF0,Q8WU60,Q96DP0,ABM83644,ABM86893,EAX09523,EAX09524,EAX09525,EAX09526,CAB56704,BAB71080,BAF82275,AAO49719,AAH21217 Hs.473937 GDB:383640 CI-9KD protein-coding 1322432 NEB nebulin This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein and its size varies from 600 to 800 kD in a manner that is tissue-, species-,and developmental stage-specific. The 6,669-residue predicted protein, the short form, contains 185 copies of 35-amino acid modules that can be classified into 7 types. It is suggested that alternative splicing may explain the developmental or tissue-specific size variants of nebulin. However, the nucleotide sequence information is not available for other spliced products. Mutations in this gene are associated with recessive nemaline myopathy. 1580863 11994971,11882289,11851340,11425319,11309420,11016930,10051637,9514727,9359044,9284930,8816284,8580725,3397062,2838409,2037050,1682316,15967462,7739042,9501083,17275809,16917880,15342556,15221447,15048123,14702039,12482578,12477932,12207937,12064939 4703 NM_004543,AC009497,AC107052,AC116650,AF117675,CH471058,AK056994,AK096887,AK096903,AK129532,BC012533,BC022421,BC029384,BC050436,BC056251,BC063136,BC105590,BP232190,BP233123,BX283647,BX648963,M19669,U35636,U35637,X58122,X83957 NP_004534,AAY14651,AAY14977,AAD20347,EAX11499,EAX11500,EAX11501,EAX11502,EAX11503,EAX11504,EAX11505,EAX11506,BAB71337,AAH22421,AAH29384,AAH50436,AAH56251,AAH63136,AAI05591,AAA59917,AAB02621,AAB02622,CAA41124,CAA58788,P20929,Q05C45,Q14214,Q14215,Q14918,Q53QQ2,Q53TG8,Q6P516,Q6PJ54,Q7Z2R0,Q86TG3,Q96MF8,Q9Y5Z1 Hs.588655 GDB:120224 DKFZp686C1456|FLJ39568|FLJ39584|NEB177D|NEM2 protein-coding 1318016 NEBL nebulette 1581084 9733644,17987659,15489334,15164054,15004028,14702039,12504851,12477932,11822876,11309420,11140941,10470015,8581976 1581084 10529 BC110452,BC110453,BC126132,BC126134,CR616315,Y16241,Y17673,NM_006393,NM_213569,AL157398,AL158160,AL359175,AL731547,CH471072,EF445000,AB209311,AJ580772,AK096540 AAI10453,AAI10454,AAI26133,AAI26135,CAA76130,CAA76810,O76041,Q2TBD1,Q59FZ8,Q5JUU8,Q70I54,Q8N8M3,BAC04812,NP_006384,NP_998734,CAC19642,CAI41189,CAI41193,CAI41194,CAI15775,EAW86175,ACA06021,ACA06022,ACA06023,ACA06024,ACA06025,ACA06026,BAD92548,CAE45323 Hs.5025 GDB:9957579 LNEBL|MGC119746|MGC119747|bA56H7.1 protein-coding 1342968 NECAB1 N-terminal EF-hand calcium binding protein 1 15489334,14702039,12477932,12044471 64168 NM_022351,AC093329,AC103770,CH471060,AF193756,AF414126,AK095533,AK098356,AY224210,BC016340,BC068448 NP_071746,EAW91669,EAW91670,AAG28412,AAP33146,BAC04568,AAO34126,AAH16340,AAH68448,Q8N987 Hs.560892 EFCBP1|STIP-1 EF-hand calcium binding protein 1|ef hand calcium binding protein 1 protein-coding 1345623 NECAB2 N-terminal EF-hand calcium binding protein 2 633497,1580863 16713569,16189514,15489334,14702039,12477932,12044471,11641222,9110174,8619474 633497 54550 NM_019065,AC040169,CH471114,AF070637,AF193758,AK127376,AY299331,BC016979,BC131615 NP_061938,EAW95508,EAW95509,EAW95510,AAC25392,AAG28414,BAC86948,AAP57260,AAI31616,Q7Z6G3 Hs.140950 EFCBP2 protein-coding 1320847 NECAB3 N-terminal EF-hand calcium binding protein 3 The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 14702039,14697346,12477932,12044471,11780052,10715114,9776767,10833507,12780348,15489334 63941 NM_031232,NM_031231,AL121906,CH471077,AB039947,AF193759,AF409141,AK023706,AK124388,AK291895,AL519842,BC023270,BC047673,BQ212085,BQ431858,CD580591,CR603836,CR610365,CR614917,CR617645,CR624229,CR626345 NP_112509,NP_112508,CAI22127,CAI22128,CAI22129,EAW76301,EAW76302,EAW76303,EAW76304,EAW76305,EAW76306,EAW76307,EAW76308,BAB16413,AAG28415,AAL01118,BAB14649,BAF84584,AAH47673,Q5JWF5,Q96P71 Hs.516986 GDB:11505629 APBA2BP|EFCBP3|NIP1|STIP3|SYTIP2|XB51|dJ63M2.4|dJ63M2.5 protein-coding 1603669 NECAP1 NECAP endocytosis associated 1 15489334,14702039,14555962,12477932,14665628,15494011 25977 NM_015509,AC006511,AC007536,CH471116,CQ782887,CQ784000,AK074858,AK074880,AK074923,AK075013,AK094805,AK290537,AL050272,BC002888,BC067367,BC084551,BC110876,CR622227 NP_056324,EAW88636,EAW88637,EAW88638,EAW88639,CAF86114,CAF86963,BAC11250,BAC11264,BAC11296,BAC11352,BAF83226,CAB43373,AAH02888,AAH67367,AAH84551,AAI10877,Q8NC96 Hs.555927 DKFZP566B183|MGC131900 protein-coding 1603996 NECAP2 NECAP endocytosis associated 2 11256614,16710414,16381901,16189514,15494011,15489336,15489334,14702039,14555962,12477932,11214971,11076863,9373149,8125298,14665628 55707 CR618586,CR620287,CR622734,CR624001,CR617164,NM_018090,AL137802,AL669962,CH471167,AK001282,AK021938,AK023545,AK024468,AK223344,BC017014,BC018914,CR592202,CR602402,CR606897,CR608405,CR616300 Q0JTE3,Q53FE5,Q9NVZ3,CAL38220,NP_060560,CAI22843,CAH71454,EAW51780,EAW51781,EAW51782,EAW51783,EAW51784,BAA91598,BAB14605,BAB15758,BAD97064,AAH17014,AAH18914 Hs.437385 FLJ10420|RP4-798A10.1 protein-coding 1317123 NEDD1 neural precursor cell expressed, developmentally down-regulated 1 16461362,16378099,16051665,15489334,14702039,12477932,7814034 121441 NM_152905,AC007564,AC013417,CH471054,AK093221,AK290058,AK315821,AL832466,AL832468,BC020799,BC026168,BC027605 NP_690869,EAW97577,EAW97578,EAW97579,EAW97580,BAC04099,BAF82747,BAF98712,AAH20799,AAH27605,Q05CT8,Q8NHV4,ABM82532,ABM85725 Hs.270084 GDB:270139 FLJ35902|GCP-WD|TUBGCP7 protein-coding 1343378 NEDD10 neural precursor cell expressed, developmentally down-regulated 10 4740 GDB:270148 736612 NEDD4 neural precursor cell expressed, developmentally down-regulated 4 1580863 17719543,18305167,18287095,17996703,17544362,17218260,17116753,16885233,16867982,16572171,15703212,15548568,15252135,15217910,15126635,15060076,14645220,14581525,12907674,12907594,12796489,12697834,12610113,12477932,12230472,12218189,12050153,11991975,11919637,11748237,11717310,11696533,11598133,11359767,11342538,11112487,11087860,11087859,11042109,10871286,10642508,10446181,10212229,10037602,9990509,9593687,9525617,9405440,9351815,9305852,9182527,9073511,8649367,7788527,15013426,12729930,15678106,11046148 4734 NM_198400,AC009997,AC039057,CH471082,AL832063,AL832359,AL833293,AL833300,AY550969,BC035707,BC047035,BC152452,BC152562,D42055,NM_006154 NP_006145,NP_940682,EAW77495,EAW77496,EAW77497,AAT52215,AAI52453,AAI52563,BAA07655,P46934 Hs.1565 GDB:270142 KIAA0093|MGC176705 neural precursor cell expressed, developmentally down-regulated gene 4a protein-coding 1344203 NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like 11244092,18321969,18321968,18293164,18268134,17652939,17544362,17502380,17487281,17331106,17081983,16788695,16716084,16701206,16103266,15814530,15677482,15576372,15496141,15489334,15489223,15328345,15252135,15231748,15217910,15140763,15044175,15040001,14702039,14615060,14556380,12911626,12876068,12729930,12522688,12477932,12139396,12050153,11840194,11748237,11742982,11696533,11562473,11046148,10594025,9455477,8576257,9649342,16189514,15778465 23327 NM_015277,AC015988,AC090236,AC107896,CH471096,AB007899,AB071179,AF210730,AF385931,AK091189,AK130420,AL137469,AY112983,AY112984,AY112985,AY243313,AY243314,AY243315,AY243316,AY243317,AY243318,AY243319,AY243320,AY243321,AY243322,AY256662,AY312514,AY751751,BC000621,BC019345,BC032597,CR598386,DQ181796 NP_056092,EAW63064,EAW63065,EAW63066,EAW63067,EAW63068,EAW63069,EAW63070,EAW63071,EAW63072,EAW63073,EAW63074,EAW63075,BAA23711,BAB69424,AAG43524,AAM46208,CAB70754,AAM76728,AAM76729,AAM76730,AAP97872,AAP97873,AAP75706,AAU95503,AAH00621,AAH19345,AAH32597,ABA10330,Q3LSM7,Q5XLQ3,Q7Z4N9,Q7Z4P0,Q96PU5,ABM81839,ABM84276 Hs.185677 GDB:10796206 FLJ33870|KIAA0439|NEDD4-2|RSP5|hNedd4-2 protein-coding 1350647 NEDD7 neural precursor cell expressed, developmentally down-regulated 7 4737 GDB:270145 735521 NEDD8 neural precursor cell expressed, developmentally down-regulated 8 1549457,1580863 15567417,17353931,9694792,9353319,18274552,18264111,18096514,17935801,17660949,17132228,17119158,17098746,16979187,16861300,16735510,16620772,16503656,15694336,15489334,15242646,14702039,14690597,14676825,12816948,12759363,12740388,12730221,12646924,12554766,12504025,12477932,12215427,11953428,11675391,11585840,11259415,11181995,10828074,10772955,10713156,10597293,10587588,10500095,10318914,10217437,10207026,9857030,9790970,8889548,8395831,1378265,14757770 1549457 4738 BC038290,BC064899,BC104200,BC104201,BC104664,BE548741,CF130271,CR407662,D23662,NM_006156,AL096870,CH471078,AK125214 AAI04201,AAI04202,AAI04665,CAG28590,BAA04889,Q15843,NP_006147 Hs.531064 GDB:270146 FLJ43224|MGC104393|MGC125896|MGC125897|Nedd-8 neural precursor cell expressed, developmentally down-regulated gene 8 protein-coding 1314803 NEDD9 neural precursor cell expressed, developmentally down-regulated 9 10692442,10508479,10502414,10490968,10455189,9820532,9748319,9498705,9497377,9405482,9366405,9360983,9020138,8879209,10808124,11827972,9584194,8668148,18063669,17908996,16394104,16352661,16344118,16184168,15592516,15489334,15376324,15231748,15144564,15144186,15051726,12847683,12522270,12517963,12477932,12189134,11782456,11438665,11118211,11054566,10866674 4739 NM_006403,NM_182966,AL022098,AL136139,AL139807,CH471087,AJ420493,AK292682,BC020686,BC040207,BC050740,BX648041,CR617655,L43821,U64317 NP_006394,NP_892011,CAI21634,CAI22676,CAI22677,CAI21579,CAI21580,CAI21581,EAW55299,EAW55300,EAW55301,EAW55302,EAW55303,BAF85371,AAH20686,AAH40207,AAH50740,AAA98770,AAB53696,Q14511,Q5T9R4,Q5TI59,Q5XKI0,Q6PI02,ABM82651,ABM85828 Hs.699288 GDB:270147 CAS-L|CAS2|CASL|CASS2|HEF1|dJ49G10.2|dJ761I2.1 protein-coding 736723 NEFH neurofilament, heavy polypeptide 200kDa 1302518,1300048,1302574,1580863 14662745,3138108,17290105,16084104,15489334,14722583,12963086,12674703,12477932,12130654,11238716,10048485,9931323,9875737,9388258,8889548,8621664,8379998,8224877,8102569,7849698,2557834,1688443 1302518,1302574 4744 NM_021076,AC000035,CH471095,X15306,X15307,X15308,X15309,AA908662,AB020652,AF203032,BC073969,BE223015,BE782873,BG470629,BM686053,S66488,BC008648 NP_066554,EAW59804,EAW59805,EAW59806,CAA33366,BAA74868,AAF13722,AAH08648,AAH73969,AAB28609,P12036,Q16070,Q96HF8 Hs.198760 GDB:120225 NFH protein-coding 1343217 NEFHL neurofilament, heavy polypeptide-like 4746 GDB:120226 1344238 NEFL neurofilament, light polypeptide 68kDa 1358514,1580863 12566280,12481988,12477932,12477167,12231460,12133495,11220745,10841809,9763415,9388258,9373149,8863508,8621664,8530496,8344946,8180132,8125298,6135695,3121319,3036423,3034332,2516804,1902666,1497855,9425014,15383276,12432080,12226091,15857389,17052987,14662745,18023247,17923616,17903209,17620486,17475803,17290105,16930284,16678934,16452125,16084104,15686490,15654615,15489334,15241803,15122254,15111691,14733962,12911634,12837694,12730211 1358514 4747 NM_006158,AC107373,AY082067,CH471080,S70309,X05608,AK057731,AK075003,AK127430,AK225975,AL713644,AY156690,BC037803,BC039237,BC066952 NP_006149,AAL92540,EAW63598,EAW63599,EAW63600,EAW63601,AAD14057,CAA29097,CAD28456,AAN74826,AAH39237,AAH66952,P07196,Q6NXQ2,Q7Z5R4,Q8TCR7,ABM83572,ABM86810 Hs.521461 GDB:120227 CMT1F|CMT2E|NF-L|NF68|NFL protein-coding 1345146 NEFLL1 neurofilament, light polypeptide-like 1 3145240 4748 GDB:120228 1348787 NEFLL2 neurofilament, light polypeptide-like 2 4749 GDB:120229 735476 NEFM neurofilament, medium polypeptide 150kDa 1300048,1302566,1580863 3608989,14662745,16734940,16084104,16006557,15822905,15342556,15290901,14583397,12963086,12477932,12133495,11563628,10762698,8702840,8620924,8344946,7829101,7790359,2557834,2450354,1537832,1348579 1302566 4741 NM_005382,NM_001105541,AF106564,CH471080,Y00067,AF181990,BC002421,BC071752,BC096757,BI496345,BP247321,BP311096,CR611974,DC318935,DC332005,DC352660,EF560736,EF560737 NP_005373,NP_001099011,EAW63602,CAA68276,AAF00492,AAH96757,ABQ59046,ABQ59047,P07197,Q4QRK6,Q9UK51 Hs.458657,Hs.615287 GDB:118842 NEF3|NF-M|NFM neurofilament 3, medium protein-coding 1348692 NEGR1 neuronal growth regulator 1 737633,1299429,1580863 16710414,16602701,14702039,12975309,12477932,10075727 737633,1299429 257194 Q8N440,Q68DZ8,Q7Z3B1 AL354949,AL355590,AL356600,AL359821,AL365362,AL391239,AL513349,AL627317,AL645724,AL645767,NM_173808,CH471059,AK092307,BC036771,BX538014,BX648027,CR749215 NP_776169,CAI16869,CAI16870,CAI23492,CAI23493,CAH70913,CAH70914,CAH72391,CAH72392,CAI21858,EAX06428,EAX06429,EAX06430,BAC03858,AAH36771,CAD97961,CAH18072,Q68DZ8,Q7Z3B1,Q8N440 Hs.146542 DMML2433|KILON|MGC46680|Ntra protein-coding 1314485 NEIL1 nei endonuclease VIII-like 1 (E. coli) NEIL1 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM] 1580863 18155253,18032376,17611195,17556049,17432829,17395641,17348689,17150535,17029639,16446124,16118226,15533839,15489334,15350146,15319300,15260972,15232006,15159582,14734554,14702039,14522990,12509226,12477932,12433996,12200441,11904416,16189514 79661 AB079068,AK026055,AK026216,AK097008,AK128372,BC010876,AC068338,AY257544,CH471136,NM_024608 BAC06476,BAB15337,BAC87405,AAH10876,Q96FI4,ABM82356,ABM85531,NP_078884,AAO74826,EAW99255,EAW99256,EAW99257,EAW99258,EAW99259,EAW99260 Hs.512732 GDB:11506320 FLJ22402|FPG1|NEI1|hFPG1 protein-coding 1323805 NEIL2 nei like 2 (E. coli) NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226])[supplied by OMIM] 17686777,17150535,17029639,16982218,16381901,15489336,15489334,15339932,15175427,14734554,14702039,14522990,12509226,12477932,12200441,12097317,11230166,11076863,9373149,8125298 252969 AK225837,BC013952,BC013964,BC045822,BX537529,CR600966,NM_145043,AC069185,AY306127,CH471157,AB079070,AK056206,AK097389 BAC05030,AAH13952,AAH13964,AAH45822,CAD97774,Q0JSQ0,Q3ZCR7,Q969S2,CAL38464,NP_659480,AAP45052,EAW65623,EAW65624,EAW65625,EAW65626,BAC06478,BAB71120 Hs.293818 GDB:11510172 FLJ31644|MGC2832|MGC4505|NEH2|NEI2 protein-coding 1352319 NEIL3 nei endonuclease VIII-like 3 (E. coli) NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM] 15146197,14702039,12713815,12509226,12477932,12433996,12200441,15342556,18270339,15489334 55247 NM_018248,AC027627,CH471056,DQ310721,AB079071,AI419161,AK001720,BC025954,BE865481,BP380910,CN426741,CR605089 NP_060718,EAX04716,ABC40719,BAC06479,BAA91860,AAH25954,Q8TAT5 Hs.405467 FGP2|FLJ10858|FPG2|NEI3|hFPG2|hNEI3 protein-coding 1319690 NEK1 NIMA (never in mitosis gene a)-related kinase 1 1580863 14690447,15231747,8274451,15604234,15345747,14702039,12477932,11572484,10508479,1382974 4750 AC116621,CH471056,AB067488,AF155113,AK025658,AK027580,AL050385,BC015147,BC037790,BC068201,BC114491,CD358162,CR933642,CR936672,Z25431,NM_012224,AC084724,AC116615 EAX04787,EAX04788,EAX04789,EAX04790,EAX04791,BAB67794,AAD42879,BAB15207,BAB55209,CAI46225,AAH15147,AAH37790,AAI14492,CAI45943,CAA80918,Q05DG5,Q14CB7,Q15453,Q5H9T1,Q5JXL9,Q6PIB8,Q96PY6,Q96SS2,Q9H6P7,NP_036356 Hs.481181 GDB:9864378 DKFZp686D06121|DKFZp686K12169|KIAA1901|MGC138800|NY-REN-55 protein-coding 1350326 NEK10 NIMA (never in mitosis gene a)- related kinase 10 15289607,14702039,12477932 152110 NM_001031741,NM_152534,AC093555,AC098931,CH471055,AK057247,AK098832,AK123061,AK128585,BC045758,BX537852,DQ104438 NP_001026911,NP_689747,EAW64376,EAW64377,EAW64378,EAW64379,EAW64380,BAB71395,BAC05427,BAC85527,BAC87513,AAH45758,CAD97860,AAZ20184,Q45VJ4,Q6ZWH5,Q86XB1,Q8N774,Q96MB3 Hs.506115 GDB:11508977 FLJ32685 protein-coding 1318782 NEK11 NIMA (never in mitosis gene a)- related kinase 11 NEK11 belongs to the NIMA family of kinases, which are involved in DNA replication and genotoxic stress responses (Noguchi et al., 2002 [PubMed 12154088]).[supplied by OMIM] 15161910,15489334,14702039,12477932,12154088 79858 CR599596,NM_145910,AC010210,AC055733,AC083908,AC116424,AC121332,CH471052,AB071996,AB071997,AK027148,AK123021,AL833472,BC009414,BC026195,BC028587,NM_024800 NP_079076,NP_665917,EAW79212,EAW79213,BAC06350,BAC06351,BAB15672,CAI46114,AAH28587,Q8NG66 Hs.657336 GDB:11508978 FLJ23495 protein-coding 732517 NEK2 NIMA (never in mitosis gene a)-related kinase 2 1580863 9647649,9430639,11742988,18086858,17626005,17621308,17535851,17283141,17197699,16710414,16157594,16084011,15950749,15659832,15659651,15492258,15489334,15387139,15358203,15252450,15161910,14978040,12857871,12477932,12386167,12221103,11785960,11742531,10880350,10645953,10347187,9373149,8274451,8125298,7522034 4751 AC096637,AL356310,CH471100,AK223353,AK225522,AY045701,AY863109,BC043502,BC052807,BC065932,BT019729,CR593900,CR601480,DQ786247,DQ786281,U11050,Z25425,Z29066,NM_002497 NP_002488,EAW93410,EAW93411,BAD97073,AAK92212,AAW56418,AAH43502,AAH52807,AAH65932,AAV38534,AAA19558,CAA80912,CAA82309,P51955,Q5I1Z9 Hs.153704 GDB:9864379 HsPK21|NEK2A|NLK1 protein-coding 1345015 NEK2P NEK2 pseudogene 326302 NG_002554,AL512310 pseudo 1316605 NEK3 NIMA (never in mitosis gene a)-related kinase 3 In Aspergillus nidulans, lack of the serine/threonine kinase NimA (never in mitosis A) results in cell cycle arrest in G2, while overexpression causes the premature onset of mitotic events. The protein encoded by this gene is similar in sequence to the Aspergillus nidulans protein and may therefore play a role in mitotic regulation. However, the encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. Three transcript variants have been found for this gene, but the full-length nature of only two of them has been characterized. 1580863 15618286,7522034,17297458,17118778,15489334,15345747,12477932,12063396,10224116,8889548,8274451 4752 NM_002498,NM_152720,AL139082,CH471075,AB072828,AK131359,AK290259,BC019916,BM984985,BQ648157,CR606903,CR612915,Z25434,Z29067,AL833951 NP_002489,NP_689933,CAI12894,CAI12895,EAX08905,EAX08906,EAX08907,EAX08908,EAX08909,BAC15599,BAD18511,BAF82948,AAH19916,CAA80921,CAA82310,P51956,Q5JPB0,Q5TAP2,Q5TAP3,Q6ZN64,Q8J023,CAI46210,ABM82729,ABM85913 Hs.409989 GDB:9864380 HSPK36|MGC29949 protein-coding 1312757 NEK4 NIMA (never in mitosis gene a)-related kinase 4 1580863 8208544,12477932,9552363,601959 6787 NM_003157,AC006254,AC104446,CH471055,BC015515,BC063044,EF560744,L20321 NP_003148,EAW65258,AAH15515,AAH63044,ABQ59054,AAA36658,P51957,Q05DF6,Q6P576 Hs.631921 GDB:374125 MGC33171|NRK2|STK2|pp12301 protein-coding 1344374 NEK5 NIMA (never in mitosis gene a)-related kinase 5 15489334,15057823,12477932,9552363 341676 NM_199289,AL139082,AK126330,BC063885,CR598570 NP_954983,CAI12892,BAC86527,AAH63885,Q6P3R8,Q6ZTQ6 Hs.672144 GDB:9864382 MGC75495 protein-coding 1347059 NEK6 NIMA (never in mitosis gene a)-related kinase 6 The Aspergillus nidulans 'never in mitosis A' (NIMA) gene encodes a serine/threonine kinase that controls initiation of mitosis. NIMA-related kinases (NEKs) are a group of protein kinases that are homologous to NIMA. Evidence suggests that NEKs perform functions similar to those of NIMA.[supplied by OMIM] 1580863 14563848,16476580,17353931,12761501,12054534,17512906,16189514,15761153,15489334,12840024,12477932,12101123,12023960,11701951,11516946,10964517,10702691,10191262 10783 BC004174,BC004209,BC012761,CR457091,CR542222,CR608265,CR611916,CR614269,CR619855,BC000101,NM_014397,AL137846,AL162724,CH471090,AB026289,AF087909,AJ420460 AAH00101,AAH04174,AAH04209,AAH12761,CAG33372,CAG47018,Q5VZ09,Q5VZ11,Q5VZ12,Q5VZ13,Q5VZ14,Q5VZ15,Q5VZ16,Q5VZ17,Q6FG86,Q6IAR3,Q9HC98,NP_055212,CAI10875,CAI10876,CAI10877,CAI10878,CAI10879,CAI10880,CAI10881,CAI10882,CAI10883,EAW87578,EAW87579,EAW87580,EAW87581,BAA85045,AAG13417 Hs.197071 GDB:9958277 SID6-1512 protein-coding 1322471 NEK7 NIMA (never in mitosis gene a)-related kinase 7 NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM] 1580863 17353931,17586473,17101132,12840024,11701951,10964517 140609 NM_133494,AC093419,CH471067,AB062450,AL080111,CR614163 NP_598001,EAW91293,EAW91294,EAW91295,EAW91296,BAB85632,Q8TDX7,AAI52873,AAI56617 Hs.24119 GDB:11506322 protein-coding 1315774 NEK8 NIMA (never in mitosis gene a)- related kinase 8 This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. 1580863 18199800,15872312,15761153,15489334,15019993,12477932,11864968 284086 NM_178170,AC010761,CH471159,AL833909,AY242354,AY267371,BC112240,BC113705 NP_835464,EAW51135,EAW51136,EAW51137,CAD38765,AAO88243,AAP04006,AAI12241,AAI13706,Q86SG6 Hs.448468 GDB:11508622 JCK|MGC138445|NEK12A protein-coding 1316228 NEK9 NIMA (never in mitosis gene a)- related kinase 9 17353931,17443675,17192257,17081983,15489334,15019993,14660563,12840024,12508121,12477932,12101123,12056414,11864968 91754 NM_033116,AC007055,AL049780,CH471061,AB082526,AK128693,AL117502,AL832633,AL833036,AY048580,AY080896,BC001714,BC009336,BC093881,BC112101 NP_149107,AAD31936,AAD31938,AAD31939,AAD31940,EAW81220,EAW81221,EAW81222,BAC02704,AAL05428,AAL87410,AAH01714,AAH09336,AAH93881,AAI12102,Q6PKF2,Q8TD19 Hs.696132 GDB:11508976 DKFZp434D0935|MGC138306|MGC16714|NERCC|NERCC1|Nek8 protein-coding 733597 NELF nasal embryonic LHRH factor 737633 16713569,16565220,15489334,15362570,15164053,14702039,12477932,11230166,10898796 737633 26012 AY255128,AY255129,AY255130,AY255131,AY255132,BC004318,BC016862,BC072412,BC110498,CR595636,CR602745,CQ782572,AJ420418,AK027474,AK074602,AK292030,AL117660,AL389944,AL389945,AL389946,NM_015537,AL365502,CH471090 AAP83576,AAP83577,AAP83578,AAP83579,AAP83580,AAH04318,AAH16862,AAH72412,AAI10499,Q2TB96,Q5T359,Q6X4W1,Q96AQ0,Q9BT66,Q9NTU2,EAW88393,EAW88394,CAF85849,BAB55139,BAC11086,BAF84719,CAB56031,CAB97524,CAB97542,CAB97525,NP_056352,CAI14575,CAI14576,CAI14577,CAI14578,EAW88390,EAW88391,EAW88392 Hs.455336 MGC125369|RP11-48C7.1 protein-coding 733264 NELL1 NEL-like 1 (chicken) This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF) -like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. An alternative splice variant has been described but its full-length sequence has not been determined. 1580863 8975702,18082140,17684544,17452981,17042739,16713569,15489334,15124103,14702039,14659887,12477932,12235118,11803583,10548494,10231576,9893069,7757816 4745 CQ840941,AA971151,AB085898,AK093338,AK127805,BC069674,BC096100,BC096101,BC096102,BC096103,BX476569,D83017,U57523,NM_006157,AC010811,AC067794,AC069575,AC087279,AC090707,AC090857,AC099730,AC105190,AC108460,CH471064 EAW68327,EAW68328,CAH05708,BAC22636,BAC04136,AAH69674,AAH96100,AAH96101,AAH96102,AAH96103,BAA11680,AAB06946,Q4VB88,Q4VB91,Q6NSY8,Q8IZZ6,Q8N9Z6,Q92832,NP_006148,EAW68326 Hs.657172 GDB:1391770 FLJ45906|IDH3GL|NRP1 protein kinase c-binding protein nell1 protein-coding 732316 NELL2 NEL-like 2 (chicken) This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF) -like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. An alternative splice variant has been described but its full length sequence has not been determined. 1580863 16713569,15489334,15340161,14702039,12477932,10548494,10231576,9480764,8975702 4753 AC025253,AC079033,AC079825,AC090012,CH471111,CQ840944,AK056082,AK095637,BC020544,CR598058,CR606928,D83018,D89629,NM_006159,AC018923 EAW57873,EAW57874,EAW57875,CAH05709,AAH20544,BAA11681,BAB46925,Q96JS2,Q99435,NP_006150 Hs.505326 GDB:1391771 NRP2 protein-coding 1343844 NEM1 nemaline myopathy 1, autosomal dominant 4754 GDB:127387 1603399 NENF neuron derived neurotrophic factor 18056703,16547973,15605373,15489334,12477932,9771976,9373149,8125298 29937 NM_013349,AC092803,CH471100,AB126219,AF049672,AF173937,AK074431,AK223135,AY762102,BC008823 NP_037481,EAW93389,BAD72063,AAD51419,BAD96855,AAX07829,AAH08823,Q9UMX5 Hs.461787 CIR2|NEUDESIN|SCIRP10|SPUF protein-coding 733424 NEO1 neogenin homolog 1 (chicken) 1580863 9169140,16335952,16324219,15489334,12833147,12636918,12477932,10366627,9121761,8861902,7806578,15494733,15258591 4756 NM_002499,AC068397,AC104420,AC129980,CH471082,AB209412,AL355708,AL359597,AL390182,BC117161,BM564445,DB478373,U61262,U72391 EAW77923,EAW77924,BAD92649,AAI17162,AAB17263,AAC51287,Q59FP8,Q92859,NP_002490 Hs.708019 GDB:4562682 DKFZp547A066|DKFZp547B146|HsT17534|NGN neogenin protein-coding 737242 NES nestin Nestin is an intermediate filament protein that was first identified with a monoclonal antibody by Hockfield and McKay (1985) [PubMed 4078630]. It is expressed predominantly in stem cells of the central nervous system in the neural tube. Upon terminal neural differentiation, nestin is downregulated and replaced by neurofilaments.[supplied by OMIM] 1580863,1642069,1642074,1642072,1642071 9917366,18265627,17984177,17909025,17784840,17784648,17652163,17537965,17300669,17273760,17255215,17210924,17081983,17036052,16874866,16826367,16713999,16616189,16538520,16487364,16275024,16186627,16136494,15839736,15684833,15526158,15502861,15345747,15176089,15127288,15117961,15088413,15048923,15048922,14965830,14765974,14757413,14743441,14648588,14625035,14613807,14514635,12971951,12966727,12966327,12928287,12836073,12832492,12816052,12786777,12754281,12751206,12724646,12695551,12663072,12662433,12640742,12477932,12187925,12172785,12101039,12051722,11947939,11278541,11161590,10931522,10915564,10912785,10686078,10595912,9104587,4078630,1478958 1642069,1642074,1642072,1642071 10763 NM_006617,AF004335,AL590666,CH471121,X65964,AB073350,AF086454,AK025494,AL120767,BC032580,BC051373,BC108285,BC142611,BF340882,BG912782,BQ678387,BU554136 NP_006608,AAB64426,CAI16338,EAW52923,EAW52924,EAW52925,EAW52926,CAA46780,BAE45713,BAB15153,AAH32580,AAI08286,AAI42612,P48681,Q05BW3,Q2YDX4,Q9H6U9 Hs.527971 GDB:136228 FLJ21841|Nbla00170 protein-coding 1312823 NET1 neuroepithelial cell transforming gene 1 1580863 8649828,17938206,16741933,16552434,16344560,15719398,15717291,15684429,15611121,15489334,15342556,12477932,11350080,11278519 10276 NM_001047160,NM_005863,AL732437,CH471072,AJ010046,AK024919,BC010285,BC053553,BP354878,BU633004,BX537509,DB177813,S82401,U02081,AB209852 NP_001040625,NP_005854,CAI11031,CAI11032,CAI11033,EAW86445,EAW86446,CAA08974,AAH10285,AAH53553,AAB37683,AAB08847,Q59EF9,Q5SQI5,Q5SQI7,Q7Z628,BAD93089 Hs.25155 GDB:5885848 ARHGEF8|NET1A protein-coding 1348864 NETO1 neuropilin (NRP) and tolloid (TLL)-like 1 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. It also has an intracellular FXNPXY-like motif, which has been shown in other proteins to be essential for the internalization of clathrin coated pits during endocytosis. Alternatively spliced transcript variants encoding distinct proteins have been described. 1580863 15489334,12810072,12477932,11943477 81832 NM_138966,NM_153181,NM_138999,AC023301,AC091138,CH471117,AF448838,AF448839,AL834354,BC050329 NP_620416,NP_694821,NP_620552,EAW66530,EAW66531,EAW66532,EAW66533,AAM18026,AAM18027,CAD39019,AAH50329,Q8TDF5 Hs.465407 GDB:11506324 BCTL1|BTCL1 protein-coding 1313264 NETO2 neuropilin (NRP) and tolloid (TLL)-like 2 This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. It also has an intracellular FXNPXY-like motif, which has been shown in other proteins to be essential for the internalization of clathrin coated pits during endocytosis. Alternatively spliced transcript variants have been observed, but they have not been fully characterized. 1580863 15489334,15340161,14702039,12975309,12477932,11943477 81831 NM_018092,AC007338,AC007494,AX164139,CH471092,CQ783994,AK001292,AK027478,AK027630,AK074937,AL834404,AY358718,BC012381,BC065504,BC098380,BC108727,BX538063,CR457255 NP_060562,EAW82695,EAW82696,CAF86961,BAA91604,BAB55141,BAB55247,BAC11303,CAD39066,AAQ89080,AAH12381,AAI08728,CAD97994,CAG33536,Q32NC3,Q8NC67,AAI52766,AAI56956 Hs.444046 GDB:11506326 FLJ10430|FLJ14724|FLJ90456|NEOT2 protein-coding 735984 NEU1 sialidase 1 (lysosomal sialidase) The protein encoded by this gene encodes the lysosomal enzyme, which cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis. 1580863 16835219,16538002,16094384,15885103,15489334,15213228,15024131,14695530,14656967,14517945,12477932,11829139,11702224,11571282,11470272,11279074,11063730,10944856,10767332,9501080,9480870,9054950,9020182,8910459,8312369,3922758,3102233,12487819,8892864,16189514,8985184,16314420,17562335,17480010,17028199 4758 NM_000434,AF134726,AL662834,AL671762,AL844853,AY559729,AY559730,AY559731,BA000025,BX005460,CH471081,CR388202,CR759784,CR933877,CR936237,AB209011,AF040958,AK290966,BC000722,BC011900,BT007206,CR456717,CR541916,CR590817,CR592859,CR597671,CR598233,CR599956,CR600763,CR604418,CR607381,CR610204,CR610236,CR613270,CR613752,CR615712,CR615934,CR616447,CR617168,CR621134,CR626617,U84246,X78687 NP_000425,AAD21814,CAI17742,CAI18221,CAI41850,AAT11275,AAT11276,AAT11277,BAB63297,CAM26147,EAX03536,EAX03537,CAQ09512,CAQ09305,CAQ08322,CAQ09153,BAD92248,AAB96774,BAF83655,AAH00722,AAH11900,AAP35870,CAG32998,CAG46714,AAD09239,CAA55356,Q59GU8,Q5JQI0,Q6IBT5,Q6Q4G7,Q6Q4G8,Q6Q4G9,Q99519,ABM81642,ABM83112,ABM84822,ABM86306 Hs.520037 GDB:120230 NEU|SIAL1 neuraminidase 1 protein-coding 736190 NEU2 sialidase 2 (cytosolic sialidase) This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. 1580863 8253770,17426694,15501818,15489334,14613940,12477932,10610726,10561456,10191093,12487819,8892864 4759 NM_005383,AC106876,CH471063,Y16535,BC069151,BC107053 NP_005374,AAY24360,EAW71028,CAB41449,AAH69151,AAI07054,Q6NTB4,Q9Y3R4 Hs.532681 GDB:9835134 MGC129579|SIAL2 neuraminidase 2 protein-coding 1347886 NEU3 sialidase 3 (membrane sialidase) This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. 1580863 12730204,10405317,18023981,17827720,17334392,17292733,17028199,16765317,16428383,16344560,16241905,15885103,15179041,15146197,14702039,12530538,12149448,12011038,10861246,12487819,8892864 10825 NM_006656,AP001992,CH471076,AB008185,AK022450,AK290442,CN429425,DB240271,Y18563 NP_006647,EAW74953,EAW74954,BAA82611,BAF83131,CAB96131,Q9UQ49 Hs.191074 GDB:9958384 FLJ12388|SIAL3 protein-coding 1318506 NEU4 sialidase 4 This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. 1580863 14962670,16189514,15213228,15885103,15815621,15498874,15489334,14702039,14637003,12477932 129807 BC117214,BC105974,AC114730,NM_080741,AF048727,CH471063,AJ277883,AK025617,AK091038,AK096992,AK289421,AK290076,AY203952,BC012899,BC063465,BC067780 AAI05975,AAI17215,Q3KR05,Q8WWR8,NP_542779,AAX82022,EAW71294,EAW71295,EAW71296,EAW71297,CAC81904,BAF82110,BAF82765,AAP34475,AAH12899 Hs.551747 MGC102757|MGC18222 protein-coding 1315966 NEURL neuralized homolog (Drosophila) 1334462,1580863 9519875,15489334,15164054,12477932,12213446,12076535,11997106,11585928 1334462 9148 NM_004210,AL121929,AL139339,CH471066,AF029729,BC026336,CR607490,U87864 NP_004201,CAI13958,CAI13959,CAI13960,CAH71486,EAW49628,EAW49629,EAW49630,AAD01887,AAH26336,AAC17474,O76050 Hs.708022 GDB:9955109 NEURL1|RNF67|h-neu neuralized-like (drosophila) protein-coding 1315006 NEURL2 neuralized homolog 2 (Drosophila) 1334462,1580863 17003037,15489334,14960280,14702039,12477932,12076535,11780052 1334462 140825 NM_080749,AL008726,CH471077,AJ295985,AK054821,AW298115,AW515245,BC074737,BC105935,BC107485 NP_542787,CAC36018,EAW75790,CAC82498,BAB70810,AAH74737,AAI05936,AAI07486,Q9BR09 Hs.517094 C20orf163|MGC125934|MGC125935|OZZ|Ozz-E3 neuralized-like 2 (drosophila) protein-coding 731467 NEUROD1 neurogenic differentiation 1 This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. 1625044,1601481,1580863 10507539,10366743,9714454,9703340,9343431,9144558,9039501,8915591,16189514,10545951,9308961,8786144,17941991,17985422,17440689,17327436,17217914,17192490,17126478,16936201,16909454,16873704,16870135,16773428,16569215,16357810,16344560,16321656,16321269,16055439,16026366,15993959,15815621,15708351,15665000,15650322,15592940,15489334,15277395,15247487,15047635,14759067,12951629,12890672,12881483,12861411,12639765,12482979,12477932,12476420,12200761,11900979,11788592,11755474,11575290,10757985,10636926 1625044,1601481 4760 NM_002500,AB009997,AB016079,AB018693,AB028145,AC013733,AF045152,AL049266,CH471058,U50822,BC009046,BM505034,BT019731,D82347,DA486317,DB472071,DN949274,U36472,U80578 NP_002491,BAA87605,BAA36519,BAA76603,AAY24267,AAC83145,EAX10983,AAA93480,AAH09046,AAV38536,BAA11558,AAA79702,AAC51318,Q13562,ABM82486,ABM85673 Hs.440955,Hs.574626 GDB:1230203 BETA2|BHF-1|NEUROD protein-coding 1344395 NEUROD2 neurogenic differentiation 2 This gene encodes a member of the neuroD family of neurogenic basic helix-loop-helix (bHLH) proteins. Expression of this gene can induce transcription from neuron-specific promoters, such as the GAP-43 promoter, which contain a specific DNA sequence known as an E-box. The product of the human gene can induce neurogenic differentiation in non-neuronal cells in Xenopus embryos, and is thought to play a role in the determination and maintenance of neuronal cell fates. 1580863 8816493,17117180,16607387,15489334,14732494,12477932,11900979,11732772,11473083,10662545,10640683,10209266,9748526,9119405 4761 NM_006160,AC087491,CH471152,U58681,AB021742,AW134767,BC022481,BT019365,CR590531,CR624963 NP_006151,EAW60579,AAC26058,BAA77569,AAH22481,AAV38172,Q15784,Q5U0R0 Hs.322431 GDB:3908469 MGC26304|NDRF protein-coding 1321332 NEUROD4 neurogenic differentiation 4 1580863 16344560,12477932,11078465,8889548 58158 NM_021191,AC027287,AF203901,CH471054,BC040961,BM683125,DA417566,DA768001 NP_067014,AAF99097,EAW96803,AAH40961,Q8IW56,Q9HD90 Hs.591024 GDB:11508634 ATH-3|ATH3|Atoh3|MATH-3 protein-coding 1352054 NEUROD5 neurogenic differentiation 5 63975 GDB:11508635 1343073 NEUROD6 neurogenic differentiation 6 NEUROD6 is a member of the NEUROD (NEUROD1; MIM 601724) family of basic helix-loop-helix (bHLH) transcription factors (Guo et al., 2002 [PubMed 12357074]).[supplied by OMIM] 1580863 15036409,14702039,12690205,12477932,12357074,11748221 63974 NM_022728,AACC02000087,AC006380,CH471073,AF063609,AF136169,AF248954,AK055224,AK055238,AK289619,BC022560,BC035048,CR624239 NP_073565,EAL24443,EAW93979,AAG43167,AAP97259,AAO12759,BAB70885,BAF82308,AAH35048,Q548T9,Q7Z4W9,Q8IYR9,Q96NK8,ABZ92409 Hs.45152 GDB:11508636 Atoh2|MATH2|Math-2|NEX1M protein-coding 1352814 NEUROG1 neurogenin 1 1580863 8816493,18053270,17044100,15489334,12526089,12477932,11732772,11239394,9119405,16189514 4762 NM_006161,AC005738,CH471062,U63842,BC008687,BC028226,BT019366 NP_006152,EAW62214,AAB37575,AAH08687,AAH28226,AAV38173,Q5U0Q9,Q92886,ABM82455,ABM85644 Hs.248149 GDB:3908470 AKA|Math4C|NEUROD3|ngn1 protein-coding 1319191 NEUROG2 neurogenin 2 Neurogenin-2 is a member of the neurogenin subfamily of basic helix-loop-helix (bHLH) transcription factor genes that play an important role in neurogenesis from migratory neural crest cells.[supplied by OMIM] 1580863 17784840,15489334,12477932,11203697,9539123,8948587,18242186 63973 NM_024019,AC023886,AF303002,CH471057,BC036847,CR615296 NP_076924,AAG40770,EAX06278,AAH36847,Q9H2A3 Hs.567563 GDB:11508637 Atoh4|MGC46562|Math4A|NGN2|ngn-2 protein-coding 1344822 NEUROG3 neurogenin 3 Neurogenin-3 (NEUROG3) is expressed in endocrine progenitor cells and is required for endocrine cell development in the pancreas and intestine (Wang et al., 2006 [PubMed 16855267]). It belongs to a family of basic helix-loop-helix transcription factors involved in the determination of neural precursor cells in the neuroectoderm (Gradwohl et al., 2000 [PubMed 10677506]).[supplied by OMIM] 1580863,1642077,1601481 9000438,18461161,18210030,18093211,18072012,17922104,17146417,16873704,16855267,15277395,12477932,12403815,11270683,11246894,11206403,10677506 1642077,1601481 50674 AF234829,AJ133776,AL450311,CH471083,BC069098,BC074938,BC074939,BC117488,BC126468,NM_020999 AAK15022,CAB45384,CAH72729,EAW54328,AAH69098,AAH74938,AAH74939,AAI17489,Q5VVI0,Q6DJX6,Q6NTD5,Q9Y4Z2,ABZ92401,AAI26469,NP_066279 Hs.532682 GDB:11501687 Atoh5|Math4B|ngn3 protein-coding 1354261 NEXN nexilin (F actin binding protein) 15823560,12601173,12477932,12053183,9832551,8227983 91624 BC114444,BC114445,BQ009808,BX648546,CR936630,DC412178,DQ464902,S67069,NM_144573,AC096948,AC138392,CH471059,AA249326,AF114264,AF176780,AK057954,AK127535,AY211912,BC017827,BC055084,BC111395 AAI14445,AAI14446,CAI56773,ABE97925,AAB28815,Q0ZGT2,Q5CZ93,Q7Z4C7,Q86WF6,NP_653174,EAX06359,EAX06360,EAX06361,EAX06362,AAD29607,AAQ13658,BAB71622,AAO65165,AAH17827,AAH55084,AAI11396 Hs.632387 MGC104234|MGC138865|MGC138866|NELIN protein-coding 737471 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. 1580932,1580933,1302540,1302542,1302541,1580863,1302577,1300048 1568247,1570015,11356864,17299016,16648142,17404841,1550670,18316778,18218617,18215124,18214791,18172006,18086893,18055911,18021924,17999360,17960768,17914445,17880527,17876295,17726231,17668375,17581973,17563086,17514731,17426081,17353900,17295913,17216419,17200120,17160901,17102080,17096025,17053831,16944272,16944271,16914719,16908010,16835897,16835260,16830335,16813595,16773574,16741618,16644864,16565220,16479075,16470740,16467218,16405917,16380919,16374483,16344560,16199547,16169856,16138909,16116616,16083285,16081245,16005615,15988004,15944227,15767669,15735964,15627836,15583390,12152785,12095621,12077339,12073021,11934389,11896613,11896214,11857752,11754043,11751683,11748857,11735023,11727265,11727199,11704931,11258625,11140831,10862698,10721668,10712197,10607834,10553997,10336779,10220149,9706718,9668168,9639526,9529361,9300663,9298829,9150739,9110174,9101300,9003501,9002664,8931693,8836031,8834249,8825634,8825042,8807336,8664912,8628317,8619474,8602361,8544190,8417346,8317503,8176268,8081387,8069310,7981724,7981679,7959746,7904209,7903661,7874161,7774960,7686513,7649559,7633452,7633431,7570581,7519874,2491776,2134734,2125369,2121371,2121370,2116237,2114220,1937470,1923522,1783401,1757093,1745350,1719426,1715669,1662505,1457041,1339276,1302608,15523626,15520408,15389774,15371411,15342556,15302935,15233998,15146469,15146197,15096131,14988005,14722914,14647436,13680360,13679444,12963615,12872266,12807981,12746402,12730209,12707950,12660952,12566521,12552569,12522551,12483293,12438263,12387455,12368469,12199909,12191989,15523642 1580932,1580933,1302540,1302542,1302541,1302577 4763 NM_001042492,NM_000267,AB195812,AB195813,AC004222,AC079915,AC134669,AC135724,AC138207,AC139072,AY796305,CH471147,M38116,U17084,U17656,U17659,U17662,U17668,U17673,U17677,U17690,Y07853,AB209336,X73654,AF055023,AF086346,AK026658,AK289936,BP271334,BX391799,BX537850,CN415204,D10490,D12625,D42072,DA299151,DB094344,M38106,M38107,M60496,M60915,M61213,M82814,M89914,S51751 NP_001035957,NP_000258,BAD98998,BAD98999,AAV50004,EAW80267,EAW80268,EAW80269,EAW80270,EAW80271,EAW80272,EAW80273,EAW80274,EAW80275,AAA18483,AAA56765,AAB48373,AAB48374,AAB48375,AAB48376,AAB48377,AAB48378,AAB48379,AAB48380,CAA69179,BAD92573,CAA52021,BAF82625,CAD97858,BAA01371,BAA02150,BAA07669,AAA74897,AAB59558,AAA59928,AAA59921,AAA59922,AAA59923,AAA59924,AAA59925,AAB24636,P21359,Q14180,Q14931,Q4W6X4,Q59FX3,Q7Z3J5,Q9UMU3 Hs.113577 GDB:120231 DKFZp686J1293|NFNS|VRNF|WSS neurofibromatosis 1 protein-coding 1344752 NF1L1 neurofibromin 1-like 1 (pseudogene) 10830953,7926815 4764 D26141 GDB:216191 pseudo 1352926 NF1L2 neurofibromin 1-like 2 8825634 401007 XR_017052,XR_039019,XR_019610,NG_007888,AC009477,AC131180,U35697 GDB:596363 pseudo 1348793 NF1L3 neurofibromin 1-like 3 4766 GDB:596364 1344267 NF1L4 neurofibromin 1-like 4 8825634 4767 NG_007891,AL512624,CR383656,U35690 GDB:596365 pseudo 1353614 NF1L5 neurofibromin 1-like 5 8825634 4768 NG_007889,AC006557,AP001004,U35688,U35689 GDB:596366 pseudo 1350949 NF1L6 neurofibromin 1-like 6 8825634 644637 XR_017623,NG_007890,AP000531,AP000532,U35692 GDB:596367 Em:AP000532.C22.1 pseudo 1350437 NF1P1 neurofibromin 1 pseudogene 1 (Albright osteodystrophy) 8825634,8264676,1505963 4770 NG_005158,AC037471,U35691,X72619,M84131 Hs.447837 GDB:132122 NF1HHS pseudo 731858 NF2 neurofibromin 2 (merlin) This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. 1624321,1580863 17353411,9537418,17210637,12444102,8379998,10861283,10401006,18173316,18072270,18033041,17989580,17868749,17655741,17566081,17509660,17478763,17470137,17222329,17081983,16885985,16786152,16652148,16612978,16537381,16532029,16497727,16007223,15980114,15824172,15797715,15743831,15699051,15635074,15609345,15598747,15489334,15467741,15461802,15378014,15190457,15146197,15123692,14981079,14724586,14702039,14612918,14580336,14566860,13679444,12896975,12695331,12684666,12665675,12478663,12477932,12471027,12444101,12356905,12226091,12217955,12191989,15580288,15541357,12118253,11856822,11839955,11836375,11827459,11719502,11535133,11432873,11380622,11285248,10669747,10591208,10220142,10090912,10036239,9817927,9748471,9486775,9430655,9399891,9330869,8889548,8791482,8757035,8655144,8566958,8453669,8230593,8162073,8162072,8081368,8069299,8069298,8012353,8004107,7951231,7913580,7868131,7798645,7666400,7485397,1456285,16282498,16189514,15175163,9703963 1624321 4771 NM_181832,NM_016418,NM_000268,NM_181833,NM_181829,NM_181828,NM_181830,NM_181825,NM_181831,AC004882,AC005529,AF165426,CH471095,AF123570,AF369657,AF369658,AF369661,AF369662,AF369663,AF369664,AF369665,AF369666,AF369667,AF369668,AF369700,AF369701,AF369702,AF369703,AK092306,AK092515,BC003112,BC007279,BC007336,BC010060,BC020257,BC071653,CF138178,CN419318,CR456530,CR595612,EF517524,L11353,L27065,S73853,S73854,S73856,Z22664,X72655,X72670,Y18000,AF113694,AF122827,AF122828 NP_861970,NP_057502,NP_000259,NP_861971,NP_861967,NP_861966,NP_861968,NP_861546,NP_861969,AAF80764,EAW59814,EAW59815,EAW59816,EAW59817,EAW59818,EAW59819,EAW59820,EAW59821,ABM82623,ABM85804,AAD48753,AAD48754,AAK54160,AAK54161,AAK54162,AAK54163,AAK54164,AAK54165,AAK54166,AAK54195,AAK54196,AAH03112,AAH07279,AAH20257,CAG30416,ABP73252,AAA36212,AAA62422,AAB31736,AAB31737,AAB31738,CAA80377,P35240,Q16230,Q16231,Q16233,Q7KZ66,Q9NRW8,Q9P1N4,CAK54561,CAK54860,EAW59823,EAW59824,EAW59825,EAW59826,EAW59827,EAW59828,EAW59829,EAW59830,EAW59831,EAW59832,EAW59833,CAA51220,CAA76992,CAA76993,AAF29587,AAD48752,EAW59822 Hs.187898 GDB:120232 ACN|BANF|SCH neurofibromatosis 2 protein-coding 1348005 NFAM1 NFAT activating protein with ITAM motif 1 The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. 737633,1580863 12615919,15143214,18295596,18031784,17079331,15489334,14702039,12693554,12477932 737633 150372 NM_145912,AL022316,CH471095,AK074094,AK097971,AY121370,AY247409,BC038241,CT841509 NP_666017,EAW60504,EAW60505,BAB84920,BAC05207,AAM83133,AAO91847,AAH38241,CAJ86439,Q8N1J4,Q8NET5,CAK54645,CAK54944 Hs.436677 CNAIP|FLJ40652|bK126B4.4 protein-coding 733496 NFASC neurofascin homolog (chicken) Neurofascin is an L1 family immunoglobulin cell adhesion molecule (see L1CAM; MIM 308840) involved in axon subcellular targeting and synapse formation during neural development (Ango et al., 2004 [PubMed 15479642]).[supplied by OMIM] 17846150,17405145,16710414,16061393,15491607,15489334,15479642,14702039,12477932,12223548,12168954,11719549,9872452,9572267,9371782,9110174,8893017,8672144,8619474,1377696,11152476,11839274,11724816,11470829,14676309,9804856 23114 NM_015090,AC096675,AL391822,AB018299,AB177861,AF054995,AK027553,AK090639,AK097802,AK127424,AK128699,AK172728,BC008124,BC033367,BC035389,BC040674,BC117674,BG702675,BX537841,BX641047,BX641048,CR749402 NP_055905,CAI14656,CAI14657,CAI14658,CAI14659,CAI14660,CAI14661,CAI14662,CAI14664,CAI14665,CAI14666,CAI14667,BAA34476,BAD66839,BAB55195,BAC87577,AAH08124,AAI17675,CAD97852,CAH18247,O94856,Q149P5 Hs.13349 DKFZp686P2250|FLJ46866|KIAA0756|NF|NRCAML neurofascin protein-coding 1319318 NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. 10377394,15790681,10051678,17440116,17173480,17148781,16782704,16644704,15840767,15173573,14702039,12538727,12482947,12477932,12421765,12379312,12359721,12080349,11936849,11877454,11792870,11780147,11528118,11485737,11233530,11072102,11060450,11046013,10733904,10565538,10048485 10725 NM_138714,NM_138713,NM_173214,NM_006599,NM_001113178,AC009032,AC012321,CH471092,AB020634,AF089824,AF134870,AF163836,AF346509,AJ005683,AJ005684,AJ243298,AK000312,AK001067,BC089395,BC131509,BC146765,BE737032,U80231,Z97016,AJ243299 NP_619728,NP_619727,NP_775321,NP_006590,NP_001106649,EAW83277,EAW83278,EAW83279,EAW83280,EAW83281,BAA74850,AAD18136,AAD38360,AAD48441,AAK91166,CAC42764,CAC42765,AAI31510,AAI46766,AAD00352,CAB09693,O94916,Q7LA65,Q96QH3,Q9UE63 Hs.371987 GDB:9958218 KIAA0827|NF-AT5|NFATL1|NFATZ|OREBP|TONEBP protein-coding 1346235 NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Five transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. 1580863 16473827,11911478,11897999,11877454,11823475,10652349,10358178,10089876,10072078,9143705,9075924,9072970,7999066,7842733,16260021,7957556,8814265,16690925,16237100,11956293,11448168,11222731,10748182,10618429,9845362,15078178,12884293,16340127,16280328,16109714,15632146,15466861,15466412,15347678,15304486,15229217,15117818,12850144,12788643,12482669,12477932,12469121,12427739,12408978,12355451,12351631,12183075,12080349,12021260,16436503,8702849,14749367,9506523,10821850,8202141,18288635,18156209,18097033,17922653,17693409,17606988,17577925,17237284,17110989,17097050,17082665,16931157,16880514,16874304,16586042,16513293 4772 NM_006162,NM_172388,NM_172390,NM_172387,NM_172389,AC018445,AC023090,CH471117,AA679278,AK292641,BC033848,BC045628,BC104753,BC112243,BF515172,CR615430,U08015,U59736,U80917,U80918,U80919 NP_006153,NP_765976,NP_765978,NP_765975,NP_765977,EAW66617,EAW66618,EAW66619,EAW66620,EAW66621,EAW66622,BAF85330,AAI04754,AAI12244,AAA19601,AAC50869,AAD00450,AAD00451,AAD00452,O95644,Q2M1S3 Hs.534074,Hs.701518 GDB:407615 MGC138448|NF-ATC|NFAT2|NFATc protein-coding 1317023 NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1579951,1580863 16873067,15790681,8668213,18218901,18097033,17882263,17785820,17711847,17588603,17584983,17463169,17398070,17237447,17237388,17082665,16888000,16849457,16690925,16505480,16497967,16473827,16455648,15897878,15857835,15668245,15632146,15471864,15347678,15292278,15271374,15184502,15144186,15121840,15117942,14657699,12949493,12788643,12594826,12560487,12482669,12453415,12093869,12021260,11982754,11956291,11932239,11911478,11877454,11780052,11438213,11356192,11231878,11030334,10944115,10821850,10737800,10611249,10207088,10089876,9660947,9625762,9510247,9498773,9143705,9111316,8943202,8889548,8834464,8397339,8202141,7999066,7887301,7842733,7757816,7650486,16260021,7957556,8814265,9845362,12087103,10878360 1579951 4773 NM_173091,NM_012340,AF484568,AL035682,AL035684,AL132866,CH471077,AK226146,BF914609,BM463165,BU429325,CD300621,CF136470,CR993438,U43341,U43342,Z36756 NP_775114,NP_036472,EAW75602,EAW75603,AAC50886,AAC50887,Q13469 Hs.356321 GDB:407616 KIAA0611|NFAT1|NFATP protein-coding 1349771 NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 737633,1580863 17081983,16964243,15489334,14702039,12477932,8943202 737633 84901 NM_032815,AC109460,CH471267,CQ783653,AF458593,AK027545,AK074761,AK094764,AL043335,BC010161,BC018311,BC021551,BC068007,BC080628,BC101741,BC112182 NP_116204,EAW52014,EAW52015,CAF86795,AAM49721,BAB55189,BAC11189,AAH18311,AAH21551,AAH68007,AAH80628,AAI01742,AAI12183,Q8NCF5 Hs.513470 FLJ14639|MGC126790|MGC138387 protein-coding 1318613 NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Four transcript variants encoding distinct isoforms have been identified for this gene. 1581961,1579951,1579956 7739550,7749981,17035332,16445977,16260608,15489334,15173172,14702039,12788643,12671993,12482669,12477932,12417987,11997392,11877454,10493829,10089876,9759864,9660947,9630228,9498773,9374467,9143705,9121455,7999066,16260021,7957556,8814265,16690925 1581961,1579951,1579956 4775 NM_004555,NM_173163,NM_173165,NM_173164,AC020978,AC130462,CH471092,AB209824,AK057574,AK290370,BC001050,BE350846,L41067,U14510,U85428,U85429,U85430 NP_004546,NP_775186,NP_775188,NP_775187,EAW83210,EAW83211,EAW83212,EAW83213,BAD93061,BAF83059,AAH01050,AAA79174,AAA86308,AAB46595,AAB46596,AAB46597,Q12968,Q59EI7,ABM86310 Hs.632209 GDB:407617 NFAT4|NFATX protein-coding 1321836 NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family of nuclear factors of activated T cells also participate in the formation of this complex. The product of this gene plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of the IL-2 and IL-4. 1580248,1580863,1579951 7749981,18034994,17875713,17213202,17194453,17081983,17044076,16645724,16489119,16219765,12939651,12788643,12787506,12482669,12477932,11997522,11877454,11514544,11439183,10611249,10089876,9660947,9568714,9143705,7999066,16260021,7957556,8814265,16690925 1580248,1579951 4776 NM_004554,AL096870,CH471078,BC008857,BC037735,BC053855,CR597112,CR607836,CR607958,L41066 NP_004545,EAW66020,AAH08857,AAH37735,AAH53855,AAA79175,Q14934,Q49AI4,Q7Z598,Q96H68,ABZ92167 Hs.77810 GDB:407618 NF-ATc4|NFAT3 protein-coding 1315759 NFE2 nuclear factor (erythroid-derived 2), 45kDa 1580863 11863372,8355703,7774011,16763211,16287851,15489334,14966463,12805554,12509425,12490281,12477932,12196550,11154691,9753456,9305852,9166829,9150357,8248255,8107826,7724591,1569944,16189514 4778 S77763,AC078778,CH471054,DQ367844,AK290555,AK290564,BC005044,BT007288,CR450284,CR590660,CR610867,CR620089,CR621458,L13974,L24122,NM_006163 AAB34115,Q16621,ABM84363,ABM87795,ABW03868,NP_006154,EAW96771,EAW96772,EAW96773,ABC79302,BAF83244,BAF83253,AAH05044,AAP35952,CAG29280,AAA35612,AAA16118 Hs.75643 GDB:228987 NF-E2|p45 protein-coding 1323705 NFE2L1 nuclear factor (erythroid-derived 2)-like 1 1580863 9826775,8248256,9501099,17609210,16806233,15489334,12805554,12729924,12477932,12358155,11025215,9872330,9421508,9150357,8932385,8036168,8001966,7557987,16189514 4779 NM_003204,AC004477,CH471109,X84060,X84061,X84062,X84063,X84064,X84065,X84066,AK090459,AL833530,BC010623,BC131769,BX647976,L24123,U08853,X77366 NP_003195,EAW94762,EAW94763,EAW94764,EAW94765,EAW94766,EAW94767,BAC03440,AAH10623,AAI31770,AAA20466,CAA54555,Q14494,Q8NF22,ABM84234,ABM85170 Hs.514284 GDB:270234 FLJ00380|LCR-F1|NRF1|TCF11 protein-coding 734431 NFE2L2 nuclear factor (erythroid-derived 2)-like 2 NFE2 (MIM 601490), NFE2L1 (MIM 163260), and NFE2L2 comprise a family of human genes encoding basic leucine zipper (bZIP) transcription factors. They share highly conserved regions that are distinct from other bZIP families, such as JUN (MIM 165160) and FOS (MIM 164810), although remaining regions have diverged considerably from each other (Chan et al., 1995 [PubMed 7868116]).[supplied by OMIM] 1580863 11013233,10930400,10747902,10510468,10419538,9887101,9872330,9150357,7868116,16189514,7937919,18444152,18316592,18261463,18240569,18238777,18202225,18162601,18156441,18097597,18074351,18049112,18038766,18036733,17982693,17925401,17875699,17875642,17822364,17726138,17673673,17636022,17609210,17606720,17603223,17562481,17384144,17259171,17234762,17145701,17143558,17109620,17077087,17065227,17020408,16951152,16950787,16923960,16857669,16790425,16716189,16551619,16551616,16545679,16507366,16478829,16344560,16339837,16325767,16308312,16220540,16177082,16137655,16123320,16092930,16038408,16000310,15964514,15944151,15923610,15917255,15917227,15901726,15734732,15601839,15525690,15489334,15358217,15282312,15020583,14985350,14565864,14529549,14517554,14517290,12947090,12805554,12556532,12506115,12490281,12477932,12446695,12441344,12435735,12370194,12198130,12145307,12084707,12084617,12020345,11683914,11439354,11274184,11256947,11035812 4780 AC079305,CH471058,AB208786,AF323119,BC011558,BX649047,BX649071,CR619801,CV575212,DA436387,S74017,NM_006164 NP_006155,AAY14710,EAX11061,EAX11062,BAD92023,AAK01657,AAH11558,AAB32188,Q16236,Q9BZF8,ABZ92168 Hs.155396 GDB:306567 NRF2 nf-e2-related factor 2 protein-coding 1317092 NFE2L3 nuclear factor (erythroid-derived 2)-like 3 1580863 10037736,17976382,15489334,15388789,15385560,12853948,12477932,11286316,9847074 9603 BC049219,BC056142,BC068455,CR595336,CR626323,BC035762,NM_004289,AC004520,AF135116,CH236948,CH471073,AB010812,AF125534,AF133059,AF134891,BC008645,BC015336 AAH49219,AAH56142,AAH68455,Q96BQ9,Q9UHQ8,Q9Y4A8,NP_004280,AAP22344,AAF61415,EAL24236,EAW93833,BAA76288,AAF17228,AAG43275,AAF61404,AAH15336 Hs.404741,Hs.712898 GDB:9957775 NRF3 protein-coding 69144 NFIA nuclear factor I/A Nuclear factor I (NFI) proteins constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization.[supplied by OMIM] 1580863 7590749,15684392,17530927,17081983,17010934,16710414,16325577,15598822,15466411,15458926,15302935,12477932,10718198,10518556,10085123 4774 NM_005595,AC092784,AC096534,AC096947,AL096888,AL445198,AL445432,CH471059,AB037860,AK024964,AL133665,BC022264,U07809 NP_005586,CAI23237,CAI23238,CAI23240,CAI23241,CAI23242,EAX06601,EAX06602,EAX06603,EAX06604,BAA92677,CAH56387,AAH22264,Q12857,Q5T236,Q5T237,Q659D5,Q8TA97,ABM84176,ABM87578,AAA93124 Hs.191911 GDB:456948 DKFZp434L0422|KIAA1439|NFI-L protein-coding 733820 NFIB nuclear factor I/B 1580863 7590749,17511965,16344560,15489334,14702039,12639247,12477932,9484777,9099724,12624117,16189514 4781 CH471071,AF022215,AK094066,AK129782,AK131233,AK290603,NM_005596,AL136366,AL441963,AL449443,AL110126,BC001283,BC024316,BT007266,BX537698,BX537707,BX648416,BX648845,CD251577,CR603516,CR615112,CR619603,DA783871,U07810,U70862,U85193 EAW58694,EAW58695,EAW58696,EAW58697,EAW58698,EAW58699,AAB82594,BAD18416,NP_005587,CAH73583,CAH73584,CAH73585,CAH73586,CAH73587,CAH73588,CAH71969,CAH71970,CAH71972,CAH71973,BAF83292,AAH01283,AAP35930,CAH56156,AAA93125,AAB51197,AAB41899,O00712,Q5VW27,Q5VW28,Q5VW30,Q5VW31,Q5W0Y9,Q63HM5,Q6ZNF9,ABM82023,ABM85205 Hs.644095 GDB:456949 HMGIC/NFIB|NFI-RED|NFIB2|NFIB3 protein-coding 69148 NFIC nuclear factor I/C (CCAAT-binding transcription factor) 7590749,8710515,17936922,17186943,17081983,16847321,15999204,15489334,15302935,15057824,14684846,12477932,12221105,8628270,3398920,12624117,16189514,9099724 4782 NM_205843,NM_005597,AC005514,AC005551,AC005778,AC007792,AC093077,AC104104,CH471139,AK289885,AL042511,BC012120,BE887429,BI253961,BQ894051,CR536507,CR613340,X12492,X92857 NP_995315,NP_005588,AAC32593,AAC32594,AAC33190,AAC33191,AAC33192,AAC62842,EAW69323,EAW69324,EAW69325,EAW69326,BAF82574,AAH12120,CAG38745,CAA31012,CAA63440,P08651,Q6FI30,ABM84581,ABM86721 Hs.170131 GDB:226487 CTF|CTF5|MGC20153|NF-I|NFI nuclear factor i/c protein-coding 1345604 NFIL3 nuclear factor, interleukin 3 regulated 1580863 1620116,7565758,16630563,12743120,12477932,10942106,9122243,8836190,8076819,16189514 4783 NM_005384,AL353764,CH471089,EF028070,AW163045,BC008197,BQ937243,CR542049,CR599259,CR608714,CR614563,S79880,U26173,X64318 NP_005375,CAH73854,EAW62796,EAW62797,ABK15691,AAH08197,CAG46846,AAB35410,AAA93067,CAA45597,Q16649,ABM82031 Hs.79334 GDB:453298 E4BP4|IL3BP1|NF-IL3A|NFIL3A protein-coding 69161 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 1580863 7937100,8799200,16928756,16565071,15057824,12624117,12477932,11068044,11046146,10636857,9380514,9099724,9079676,8340106,7590749 4784 NM_002501,AC004660,AC007787,AC022152,AC138474,CH471106,BC036885,BC117113,BC117115,BF115883,BT019732,BX537794,L31881,U07811,U18759,U18760,U18761 NP_002492,AAC15752,AAD38240,AAD38241,EAW84338,EAW84339,EAW84340,EAW84341,EAW84342,AAI17114,AAI17116,AAV38537,CAD97845,AAA53422,AAA93126,AAB52369,AAB52370,AAB52371,Q0VG09,Q13051,Q14938,Q5U094,Q7Z3K7 Hs.257970 GDB:226491 NF1A nuclear factor i/x protein-coding 730892 NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105) This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. 1581122,1580656,1581123,1581124,1580863,2292172 8196632,11526476,14624448,16108830,16306601,10928981,10811897,1992489,8096091,11819787,10723127,18466468,18434448,18347181,18341653,18330586,18316612,18316610,18316606,18316378,18307978,18260825,18252806,18248671,18242184,18234964,18226221,18219313,18215660,18202112,18201555,18184402,18178551,18174252,18172861,18163488,18092345,18090157,18082293,18079108,18074095,18070982,18064631,18054783,18050214,18039660,18035048,18032824,18025803,18006844,18006812,17999917,17997719,17991734,17982228,17978477,17975552,17967787,17963943,17962807,17962196,17959673,17950943,17947496,17947462,17942533,17936701,17929131,17928629,17918160,17910475,17908957,17908953,17896809,17882263,17878165,17878161,17876541,17852842,17828582,17785586,17766391,17761976,17728102,17725175,17719653,17709376,17704737,17702846,17702576,17701919,17700572,17692805,17690684,17684021,17671417,17652082,17644777,17644577,17644514,17638900,17638883,17627037,17626072,17622249,17620428,17611682,17607549,17607147,17604336,17603079,17602748,17600378,17597077,17590503,17590380,17583675,17577783,17565687,17555878,17548685,17545551,17545521,17543500,17540609,17538633,17532054,17522703,17521736,17507655,17507309,17502353,17502349,17499812,17498291,17496784,17495961,17492467,17490702,17485237,17475880,17471239,17471012,17468848,17468103,17466952,17462862,17452529,17452475,17447895,17420005,17419715,17418100,17409218,17405935,17405920,17401435,17387583,17354234,17340152,17318773,17316355,17314097,17311278,17303559,17303384,17296734,17292586,17276726,17256751,17255956,17255362,17244613,17242904,17222798,17200110,17194723,17192276,17174275,17159900,17133356,17132229,17117949,17114179,17103034,17088249,17085785,17079333,17062574,17054067,17053167,17052690,17049230,17047486,17047155,17046972,17039240,17013094,17011110,17005562,17002577,16984731,16984419,16980310,16979925,16979873,16973832,16951147,16928771,16926151,16919536,16919057,16914552,16912315,16907704,16906147,16893890,16891304,16879221,16857678,16840786,16840782,16835229,16822500,16820889,16816390,16804400,16804398,16778171,16774937,16771709,16769768,16757480,16756716,16751281,16740744,16728660,16709572,16690938,16684768,16680372,16678126,16651613,16644866,16635909,16631615,16630341,16624823,16616657,16601113,16571778,16569657,16543241,16528384,16519819,16519794,16514159,16513645,16504042,16498458,16497967,16491128,16490783,16485028,16476711,16465659,16455661,16452479,16441485,16439988,16436380,16424045,16418290,16410803,16410802,16410801,16407234,16397579,16397577,16387424,16364464,16341093,16325763,16319923,16318585,16313306,16308565,16306043,16303162,16299518,16299251,16289658,16288847,16285952,16280329,16270046,16260783,16258173,16243842,16236134,16234240,16223733,16219794,16212965,16207722,16206345,16203728,16199137,16167336,16155293,16142871,16142329,16123212,16116232,16088959,16087150,16082226,16081580,16079148,16046415,16046401,16044154,16039994,16039990,16029077,16005433,16004996,15991283,15982633,15979856,15979574,15972853,15972330,15964800,15964798,15955209,15951441,15944151,15941782,15940251,15922296,15920558,15905705,15905616,15894171,15876358,15870177,15869598,15830705,15811852,15809302,15802604,15767394,15757899,15746428,15746262,15743789,15735699,15727562,15725474,15722553,15722350,15718492,15713234,15713218,15701651,15694363,15688415,15687488,15678501,15677444,15670752,15661045,15653692,15650394,15650393,15650392,15650163,15647756,15642734,15642694,15640523,15627743,15623625,15618216,15618021,15610077,15609310,15601829,15597152,15591119,15591054,15578154,15569997,15569630,15564333,15561713,15550679,15545823,15543947,15535802,15532722,15528271,15522218,15521376,15514680,15501771,15498932,15489334,15486815,15485865,15477018,15471861,15467918,15466412,15459191,15457532,15389633,15383523,15373762,15364309,15358208,15351720,15345718,15337758,15327770,15319438,15315758,15314185,15310755,15280531,15280372,15257133,15254772,15252018,15251447,15238257,15226448,15226292,15218148,15217951,15208298,15203187,15190178,15188354,15187159,15184390,15184376,15179048,15178248,15175625,15173174,15169888,15147743,15137059,15130920,15102862,15093615,15090542,15087454,15084608,15078930,15073170,15073126,15068390,15063762,15056731,15053878,15047705,15044484,15039334,15020601,15016307,15013753,14966375,14963043,14760757,14747545,14744759,14743471,14743216,14739303,14737065,14715628,14697238,14691449,14689584,14685242,14684616,14679213,14679201,14676829,14663476,14657027,14647412,14625298,14625285,14613970,14593105,14585847,14581467,14578856,14576361,14573617,14572449,14570916,14561767,14550290,14534291,14530285,13680285,12973300,12972622,12972607,12966099,12963997,12960163,12958678,12958623,12952968,12947093,12944982,12921778,12919943,12914931,12884915,12883671,12878172,12872153,12871932,12867284,12860389,12859994,12857898,12855659,12839942,12832450,12829026,12821113,12820969,12783888,12771929,12771144,12767057,12748173,12743709,12743697,12738634,12727023,12711606,12709429,12700228,12699902,12693954,12676577,12673201,12667451,12646204,12646168,12644014,12637324,12623850,12620896,12618429,12606947,12606501,12604365,12594338,12594215,12592338,12538487,12496486,12496485,12496256,12495677,12488445,12485413,12482669,12482504,12477932,12473373,12471041,12470471,12444202,12444143,12433922,12431991,12428105,12427593,12406554,12393603,12388747,12365017,12297725,12297724,12297126,12296854,12244126,12237108,12230568,12203044,12198114,12195699,12181421,12173051,12167619,12166787,12150997,12150710,12145210,12135603,12133438,12122011,12115625,12091382,12089148,12086956,12077347,12077118,12067898,12058256,12057007,12052823,12040437,12032830,12032828,12021045,12019209,11983170,11980335,11972054,11971907,11953428,11942414,11931769,11859566,11833470,11830590,11830587,11827962,11779220,11756416,11739381,11704662,11696595,11607785,11590148,11579140,11522182,11511100,11468175,11425860,11418662,11385624,11299302,11297557,11278695,11241736,11160671,11158290,11094166,11044099,11036073,10970863,10969074,10931834,10856288,10799874,10777532,10775602,10704334,10671224,10644726,10644332,10635328,10625680,10580107,10480634,10469655,10446807,10426996,10400814,10393859,10384093,10362352,10357819,10225209,10207088,10075655,9950430,9895331,9865694,9865693,9837938,9792375,9738011,9730685,9584180,9566873,9560267,9556555,9535861,9529257,9525916,9510190,9468519,9334723,9278385,9250404,9223487,9218802,9110146,9094628,8834464,8825636,8798655,8746784,8724035,8717528,8709193,8676466,8649779,8642313,8628291,8627654,8615004,8550813,8441377,8423996,8319912,8290595,8207793,8113688,8087845,7862168,7859743,7838536,7830764,7823959,7800480,7729429,7690421,7494249,2234062,2203531,2050119,1612589,1583734,1518839,1505523,16554660,17197380,15103018,11959143,16001969,9621091,8870842,10235509,9235945,8814265,8621941,7957556,16697675,15258149,16429138,8997639,8790371,7742037,2017258,16429131,15827086,1527859,16305395,15142381,15817944,15780175,15725353,15638726,8178481,8151786,16237100,14597672,12574335,12419805,12396456,14678988,8428580,14769797,11356851,15242768,10847592,10646849,1740106,1437141,7788295,9632806,10023675,2497520,9368006,10562553,7692236,15241416,8887676,15469820,15829968,9135156,15494311,15735750 1581122,1580656,1581123,1581124,2292172 4790 NM_003998,AC021120,AF213884,AY223820,CH471057,Z47748,AK122850,AK291450,BC033210,BC051765,BQ023914,CR749522,M55643,M58603 NP_003989,AAF35232,AAO30127,EAX06134,EAX06135,EAX06136,CAB94757,BAF84139,AAH33210,AAH51765,CAH18336,AAA36361,AAA36360,P19838,ABZ92169 Hs.654408 GDB:127544 DKFZp686C01211|EBP-1|KBF1|MGC54151|NF-kappa-B|NFKB-p105|NFKB-p50 protein-coding 1316230 NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) NFKB has been detected in numerous cell types that express cytokines, chemokines, growth factors, cell adhesion molecules, and some acute phase proteins in health and in various disease states. NFKB is activated by a wide variety of stimuli such as cytokines, oxidant-free radicals, inhaled particles, ultraviolet irradiation, and bacterial or viral products. Inappropriate activation of NF-kappa-B has been linked to inflammatory events associated with autoimmune arthritis, asthma, septic shock, lung fibrosis, glomerulonephritis, atherosclerosis, and AIDS. In contrast, complete and persistent inhibition of NF-kappa-B has been linked directly to apoptosis, inappropriate immune cell development, and delayed cell growth. For reviews, see Chen et al. (1999) [PubMed 9895331] and Baldwin (1996) [PubMed 8717528].[supplied by OMIM] 1580863,2292172 11526476,16108830,1876189,1760839,8360178,9407099,15677444,10723127,18466468,18434448,18377428,18025196,17715223,17548614,17476277,17363471,17292587,17237370,17028057,17003035,16990795,16940298,16751281,16651533,16368877,16344560,16303288,16260623,16223731,15782119,15677466,15489334,15485830,15310758,15164054,15140882,14743216,14676825,14532284,12927781,12894228,12874295,12835724,12808109,12524526,12505990,12485413,12482669,12477932,12473373,12427593,12389034,12352969,12185077,12167619,12040437,11994270,11980335,11833470,11827962,11707390,11704662,11579140,11522182,11511100,11468175,11385624,11299302,11241736,11239468,11160671,11044099,10823818,10799874,10671224,10644726,10644332,10597218,10580107,10562553,10480634,10446807,10400814,10393859,10384093,10225209,10207088,9895331,9792375,9730685,9566873,9525916,9510190,9384586,9315679,9278385,9110146,8887665,8834464,8724035,8717528,8709193,8676466,8627654,8615004,8453667,8441377,8413211,8207793,8152812,8113688,8108136,8036016,7969113,7949142,7859743,7838536,7823959,7800480,7729429,7690421,7541912,7494249,1612589,1583734,1531086,1505523,1473734,17197385,15103018,15258149,14678988,15469820,9135156 2292172 4791 AAB23437 NM_001077493,NM_001077494,NM_002502,AL121928,AY865619,CH471066,U20816,AK098415,AK292654,BC002844,BT009769,BY799958,DA408461,DA711063,S76638,U09609,X61498,X61499 NP_001070961,NP_001070962,NP_002493,AAW56071,EAW49700,EAW49701,EAW49702,EAW49703,EAW49704,EAW49705,EAW49706,AAA68171,BAF85343,AAH02844,AAP88771,AAB21124,AAA21462,CAA43715,CAA43716,AAB23437,Q00653 Hs.73090 GDB:128804 LYT-10|LYT10 protein-coding 735440 NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 1580863,2292172 7739562,16951195,1493333,9859996,10747850,3140380,10723127,7679069,18434448,18260825,18215193,17991436,17942396,17910475,17701919,17681786,17607549,17593226,17492467,17463416,17354114,17351338,17333217,17318773,17316064,17307728,17284228,17148610,17115186,17062574,17003112,16955245,16931600,16919536,16756995,16737960,16540234,16426569,16407234,16258173,16189514,16105840,16046415,15979856,15858823,15811852,15671028,15613239,15536134,15489334,15389633,15389589,15337789,15330761,15247916,15202778,15184376,15173174,15161102,15125834,15073126,15068390,14961554,14743216,14685242,14623898,14576361,14561767,14523047,13680285,12973300,12972430,12944982,12921778,12897149,12748192,12711606,12704657,12651903,12620896,12589049,12518988,12477932,12433922,12429743,12419806,12406554,10655476,10644755,10637284,10635328,10582246,10580107,10521480,10480634,10421793,10398585,10393859,10329681,10102628,10085062,10026139,9990853,9892650,9882613,9873017,9865694,9865693,9792645,9738011,9734360,9721103,9566883,9452483,9409737,9372968,9334723,9252186,9244310,9214631,9060679,8940099,8889548,12388747,12377412,12297126,12244195,12193729,12167702,12086926,12084717,12028809,11983170,11913973,11809792,11799106,11696595,11511100,11493922,11313474,11287411,11278695,11106428,11095741,11042193,10969074,10928981,10882136,10869418,10848576,10783893,10657303,8797825,8709193,8657102,8622692,8615004,8601309,7878004,7700645,7565415,7479976,1829648,1427874,16429138,15103018,11959143,16001969,15817944,15725353,15142381,12419805,10362352,11533489,15856023,15782119,14534291,12477728,9346485,9135156,15746428,15808510,15084260,15218148 2292172 4792 NM_020529,NG_007571,AJ249290,AJ249294,AL133163,AY496422,CH471078,AY033600,BC002601,BC004983,BT007091,BU737609,CR589981,CR591996,CR592525,CR593002,CR594547,CR595601,CR596344,CR600730,CR603242,CR604111,CR606719,CR610344,CR610623,CR612243,CR613814,CR615977,CR617669,CR618438,CR621120,CR623392,CR626144,M69043 NP_065390,CAB65113,CAB65556,AAR29599,EAW65875,AAK51149,AAH02601,AAH04983,AAP35754,AAA16489,P25963,Q9UGJ5 Hs.81328 GDB:131399 IKBA|MAD-3|NFKBI nuclear factor of kappa light chain gene enhancer in b-cells inhibitor, alpha protein-coding 732611 NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008, or NFKBIB), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664 or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 1580863,2292172 14685242,14743216,7776974,10723127,18434448,15919917,15489334,15308628,15024091,12672800,12651903,12477932,12475944,12424381,12034707,11839392,11511100,10799874,10657303,10580107,10514424,10480634,9763672,9721103,15103018,16189514,9346485,9689078,9452433,9278383,9252186,9135156,8816457,17463416,8709193,8657102,8615004 2292172 4793 NM_001001716,AC011455,AY736284,CH471126,L40407,AB209784,AI684894,AK057862,AK290569,BC007197,BC015528,BM008311,BM449613,BQ440907,BT006743,BU150265,BU634404,CR592567,CR604980,CR618976,NM_002503 NP_002494,NP_001001716,AAU10088,EAW56839,EAW56840,EAW56841,EAW56842,EAW56843,AAC41742,BAD93021,BAB71599,BAF83258,AAH07197,AAH15528,AAP35389,Q15653,Q59EM7,Q96LS1,ABM92250,ABM84730 Hs.9731 GDB:6278988 IKBB|TRIP9 i-kappa-b-beta protein-coding 1603004 NFKBID nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 14702039,12477932 84807 NM_139239,AD000864,AF385433,AF385434,AK126825,BC006273,BC119646,BC119647,CR618036 NP_640332,AAM43834,AAM43835,AAH06273,AAI19647,AAI19648,Q8NI38 Hs.466531 IkappaBNS|MGC11314|MGC149503|TA-NFKBH t-cell activation nfkb-like protein protein-coding 1352834 NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) to form the NFKB complex. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008 or NFKBIB, MIM 604495), which inactivate NF-kappa-B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine). For some genes, activation requires NFKB interaction with other transcription factors, such as STAT (see STAT6, MIM 601512), AP1 (JUN, MIM 165160), and NFAT (see NFATC1, MIM 600489).[supplied by OMIM] 1580863,2292172 16716191,9135156,18434448,17976673,17463416,16769727,14743216,14595753,12477932,12361703,11970947,10998424,10706725,9315679,9223487,8415639,8139561,16189514 2292172 4794 NM_004556,AF261937,AL139392,AY779755,CH471081,AK130739,BC011676,BC063609,BG759212,BX367256,CR599256,CR611091,CR616372,CR625145,U91616 AAM27002,NP_004547,CAI20102,CAI20103,AAV31776,EAX04262,EAX04263,EAX04264,BAC85418,AAH11676,AAH63609,AAC51216,O00221,Q5T9V9,Q5T9W0,Q6ZNS7,Q7LC14,Q96F31,AAI66665 Hs.458276 GDB:6278989 IKBE protein-coding 1351897 NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. 17353931,8081366,18295675,17855452,17847930,17544510,17517687,17485095,17119950,16804398,16720219,16644022,16634865,16101831,15969671,15843211,15018649,14989711,14574404,12618859,12509789,12477932,11113070,10369924,10202016,9480751,8499947 4795 BX927320,CH471081,CR753892,CR942185,Y14768,AF097419,AF097420,BX248516,AB088115,AB103621,AB202112,AL662801,AL662847,AL929587,BA000025,BX001040,NM_005007,AF097421,AF097422,AF097423,AF097424,AF097425,AF097426,AF097427,AF097428,AF097429,AK291893,BC105064,BC105068,BM044744,CR590712,CR593167,CR601219,CR624850,X77909 CAI41932,CAI41933,CAQ09989,CAQ09990,CAQ09991,EAX03417,EAX03418,EAX03419,EAX03420,EAX03421,CAQ06927,CAQ06928,CAQ06929,CAQ07707,CAQ07708,CAQ07709,CAA75072,AAD38108,AAD38109,NP_004998,BAC54951,BAF31285,BAE78635,CAI18288,CAI18289,CAI18290,CAI17675,CAI17676,CAI18667,CAI18668,BAB63398,CAI18642,AAD38110,CAI18643,AAD38111,AAD38112,AAD38113,AAD38114,AAD38115,AAD38116,AAD38117,AAD38118,BAF84582,AAI05065,AAI05069,CAA54867,Q5SP31,Q5ST96,Q5ST97,Q5STV4,Q5STV5,Q5STV6,Q9UBC1,ABZ92040 Hs.2764 GDB:370924 IKBL|LST1|NFKBIL protein-coding 1316704 NFKBIL2 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2 The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. 1580863 17353931,15146197,14702039,12477932,11246458,7738005 4796 NM_013432,AC084125,AF205589,AJ249601,CH471162,AB209126,AK097406,BC008782,BF475381,CN366457 NP_038460,CAB63467,EAW82092,EAW82093,BAD92363,AAH08782,Q59GI3,Q96HA7,ABM83620,ABM86863 Hs.675285 GDB:636225 FLJ40087|IKBR protein-coding 1350232 NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta This gene is a member of the ankyrin-repeat family and is induced by lipopolysaccharide (LPS). The C-terminal portion of the encoded product which contains the ankyrin repeats, shares high sequence similarity with the I kappa B family of proteins. The latter are known to play a role in inflammatory responses to LPS by their interaction with NF-B proteins through ankyrin-repeat domains. Studies in mouse indicate that this gene product is one of the nuclear I kappa B proteins and an activator of IL-6 production. Two transcript variants encoding different isoforms have been found for this gene. 737633 17447895,16622025,16513645,15618216,15522867,15241416,14702039,12565889,12477932,11356851,11278262 737633 64332 AB074898,AF548362,AK054787,AK091782,BC014587,BC060800,BM050734,DQ224339,NM_001005474,NM_031419,AC020651,CH471052,AB037925 AAN40698,BAC03746,AAH60800,ABB02425,Q9BYH8,NP_001005474,NP_113607,EAW79771,EAW79772,EAW79773,BAB40337 Hs.319171 FLJ30225|FLJ34463|IKBZ|INAP|MAIL protein-coding 1321531 NFRKB nuclear factor related to kappaB binding protein 1777480,17081983,16565220,15489334,15302935,12477932,2050119,1427843 4798 NM_006165,AP003327,CH471065,AL512730,BC063280,X80878 NP_006156,EAW67752,EAW67753,EAW67754,EAW67755,EAW67756,EAW67757,EAW67758,CAC21663,AAH63280,CAA56846,Q6P4R8 Hs.530539 GDB:132642 DKFZp547B2013 nuclear factor related to kappa b binding protein protein-coding 1350532 NFS1 NFS1 nitrogen fixation 1 homolog (S. cerevisiae) Iron-sulfur clusters are required for the function of many cellular enzymes. The protein encoded by this gene supplies inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded protein belongs to the class-V family of pyridoxal phosphate-dependent aminotransferases. 1580863 16527810,16847322,9885568,11256614,15489334,14702039,12477932,11780052,11124703,11060020,9373149,8125298 9054 CH471077,AF097025,AJ010952,AK001265,AK001470,AK056242,AK091049,AK223239,BC018471,BC065560,CR594451,CR610756,NM_021100,AL109827,AL357374 EAW76170,EAW76171,EAW76172,AAD09187,CAA09424,BAD96959,AAH18471,AAH65560,Q53FP3,Q5QP19,Q8WV90,Q9Y697,NP_066923,CAB87612,CAI20116,CAI13601,CAI13602,CAI13603 Hs.194692 GDB:11500628 HUSSY-08|IscS|NIFS protein-coding 1317241 NFU1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 12915448,12886008,12477932,11342215,10810093 27247 NM_001002756,NM_015700,NM_001002757,NM_001002755,AC114772,CH471053,AA625581,AF132967,AJ132584,AY286306,AY286307,AY335194,BC113692,BC113694,BX538347,CR621922 NP_001002756,NP_056515,NP_001002757,NP_001002755,AAY14828,EAW99849,EAW99850,AAD27742,CAB53015,AAP92372,AAP92373,AAQ73784,AAI13693,AAI13695,CAD98142,Q53QE5,Q6VNZ8,Q7Z2Y4,Q7Z5B1,Q7Z5B2,Q9UMS0 Hs.430439 GDB:11500823 CGI-33|HIRIP5|MGC142252|MGC142254|NIFUC|Nfu|NifU protein-coding 1321083 NFX1 nuclear transcription factor, X-box binding 1 MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. 1580863 7964459,17267499,16687406,15371341,15358174,14702039,12477932,10500182,9373149,8125298,2511169 4799 NM_002504,NM_147133,NM_147134,AL356218,AL356472,CH471071,U19759,AF332009,AI679589,AK055847,AK225750,AK291643,AL832342,AW674001,BC006447,BC012151,BX647337,U15306 NP_002495,NP_667344,NP_667345,CAI13304,CAI13305,CAH72747,EAW58507,EAW58508,EAW58509,EAW58510,EAW58511,AAB94787,AAK16545,BAF84332,AAH06447,AAH12151,AAA69517,O43831,Q12986,ABM84602,ABM86769 Hs.413074 GDB:9837766 DKFZp779G2416|MGC20369|NFX2 protein-coding 1347533 NFXL1 nuclear transcription factor, X-box binding-like 1 17081983,15815621,15489334,14702039,12477932,8889548 152518 NM_152995,AC107068,CH471069,AB085695,AB181916,AK131285,AY134856,BC018019,BC040151,BC051193,BM724120,BU568855 NP_694540,AAY40918,EAW93041,EAW93042,EAW93043,EAW93044,EAW93045,EAW93046,BAG16182,BAG16261,BAD18459,AAN08626,AAH18019,AAH51193,Q6ZNB6,Q8J028 Hs.646325 GDB:11508992 FLJ16294|HOZFP|URCC5 protein-coding 733450 NFYA nuclear transcription factor Y, alpha The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. 1580863 10393239,10571058,12659632,12741956,1774067,2000400,15243141,17910945,17289878,16343534,16189514,16081537,15964792,15847654,15707954,15647279,15489334,15150264,15044452,14688259,14586402,14574404,12909359,12857729,12791656,12730328,12511565,12482752,12477932,12427542,12392713,11903046,11777930,10571030,10441475,9388234,8051128,3476205,2266139,1577736,1549471,9660784 4800 NM_002505,NM_021705,AL031778,CH471081,AA905268,AJ420494,AK025201,BC039244,M59079,X59711 NP_002496,NP_068351,CAB44743,CAI20286,EAX04013,EAX04014,EAX04015,EAX04016,EAX04017,EAX04018,EAX04019,EAX04020,EAX04021,AAH39244,AAA35950,CAA42231,P23511,ABZ92427 Hs.10441 GDB:128786 CBF-A|CBF-B|HAP2|NF-YA nuclear transcription factor-y alpha protein-coding 2293177 NFYAP nuclear transcription factor Y, alpha pseudogene 100130677 NG_007867,AL355879 pseudo 1352074 NFYB nuclear transcription factor Y, beta The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. 1580863 12401788,16959611,1577736,1774067,15243141,16344560,16189514,15964792,15847654,15489334,15462673,15044452,14586402,12805369,12766061,12482752,12477932,12167641,11306579,11282029,11022037,11003667,10571030,10075648,9668064,9660784,9442396,9430679,9388234,9153318,9032250,8051128,8027044,7651426,1549471 4801 AC089983,NM_006166,CH471054,AA479300,AK291934,AL042186,AU151875,AW576189,BC005316,BC005317,BC007035,BF032637,BG776259,BQ420877,CD678671,CR616440,L06145,X59710 NP_006157,EAW97738,EAW97739,EAW97740,EAW97741,EAW97742,BAF84623,AAH05316,AAH05317,AAH07035,AAA59930,CAA42230,P25208,ABM84230,ABM87476 Hs.84928 GDB:128787 CBF-A|CBF-B|HAP3|NF-YB protein-coding 731843 NFYC nuclear transcription factor Y, gamma This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. Additional regulation, preliminarily supported by the EST database, may be represented by alternative splicing in this subunit. 1580863 10446203,12401788,7969168,9332362,15243141,16710414,15964792,15922473,15489334,14702039,14586402,12482752,12477932,12023901,10571030,9249075,8921405,8910521,9388234,11158310,11282029 4802 AC119677,AL031289,AL354914,CH471059,AB208975,AF191744,AK000346,AK127677,AL713771,BC005003,BT020081,CR590607,CR596697,CR599274,CR601428,CR602027,CR608652,NM_014223,D85425,D89986,DC428152,U62296,U78774,Z70024,Z74792 NP_055038,CAI16530,CAI16531,CAI16532,CAI16533,CAI16534,CAI16535,CAI16536,EAX07198,EAX07199,EAX07200,EAX07201,EAX07202,EAX07203,BAD92212,AAG28389,BAA91100,CAD28533,AAH05003,AAV38884,BAA12818,BAA14051,AAC50816,AAC51669,CAA93846,CAA99055,Q13952,Q14497,Q16247,Q59GY4,Q5T6K6,Q5T6K7,Q5T6K9,Q8TCN9 Hs.233458,Hs.703333 GDB:4559297 CBF-C|CBFC|DKFZp667G242|FLJ45775|H1TF2A|HAP5|HSM|NF-YC protein-coding 1352460 NGB neuroglobin This gene encodes an oxygen-binding protein that is distantly related to members of the globin gene family. It is highly conserved among other vertebrates. It is expressed in the central and peripheral nervous system where it may be involved in increasing oxygen availability and providing protection under hypoxic/ischemic conditions. 1580863 11029004,18302932,17975837,17600531,17337004,17210637,16201751,15819897,15808606,15723537,15598495,15489334,15488767,15299006,15193759,15122877,15036292,14645216,14530264,12962627,12958655,12860983,12850561,12508121,12477932,12351835,12239161,11820779,11473128,16189514,15120622 58157 NM_021257,AC007375,AC007954,AF422796,AJ245944,CH471061,DQ008010,AF422797,AJ245946,AK098350,BC032509,CR600399 NP_067080,AAF63183,AAF62557,AAL98923,CAC12994,EAW81274,EAW81275,AAY16983,AAL98924,CAC11133,AAH32509,Q9NPG2,ABM81787,ABM84942 Hs.274363 GDB:10013909 protein-coding 1320980 NGDN neuroguidin, EIF4E binding protein Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM] 16705177,16565220,15489334,14702039,12477932 25983 NM_001042635,AL132855,CH471078,AK022215,AK124318,AK291875,AL050003,BC030817,CR598616,CR598946,CR599950,CR609427,CR610556,NM_015514 NP_001036100,EAW66147,EAW66149,BAF84564,CAB43232,AAH30817,Q8NEJ9,NP_056329 Hs.9043 C14orf120|DKFZP564O092|LCP5|NGD|lpd-2 protein-coding 1319181 NGEF neuronal guanine nucleotide exchange factor 1580863 17702745,16344560,15815621,15489334,12477932,11336673,10777665,16189514 25791 NM_019850,NM_001114090,AC016692,AC106876,CH471063,AJ238899,BC031573,BC073962,BX431262,DB242442,DC388448 NP_062824,NP_001107562,AAX93288,AAY24359,EAW71024,EAW71025,EAW71026,CAC00686,AAH31573,AAH73962,Q8N5V2,ABM81769,ABM84924 Hs.97316 GDB:10795392 EPHEXIN protein-coding 1352304 NGF nerve growth factor (beta polypeptide) This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. 1580935,1580863 14985763,6688123,11520933,12787574,16939974,8615794,7806500,9182757,10629055,16284401,11157096,18349121,18280641,18221326,18203754,18199526,18179783,18068123,17992191,17905097,17893397,17854142,17850422,17673289,17638883,17192954,17081983,16919030,16839849,16832412,16786155,16710414,16546643,16319926,16313302,16079148,15829579,15681836,15544837,15523689,15489334,15131306,14976160,14970904,14708938,14587217,12925217,12918708,12900521,12676754,12531456,12477932,12453472,12397373,12205295,11935372,11877300,11729324,10806167,10681572,10490030,10391209,10322959,9351801,8895847,8808283,8178451,7789166,6648531,6330750,6327169,3871525,2906326,2374737,2025430,1692298,1383421,16741963,15361847,10708862,15258592 1580935 4803 AB037517,AF150960,AL049825,AL512638,AL606499,CH471122,M21062,V01511,AF411526,BC032517,BC126148,BC126150,BE045524,BT019733,CR541855,X52599,NM_002506 BAA90437,AAD55975,EAW56629,AAA59931,CAA24755,AAL05874,AAH32517,AAI26149,AAI26151,AAV38538,CAG46653,CAA36832,P01138,NP_002497 Hs.2561 GDB:120233 Beta-NGF|HSAN5|MGC161426|MGC161428|NGFB nerve growth factor, beta polypeptide protein-coding 730911 NGFR nerve growth factor receptor (TNFR superfamily, member 16) Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. 1580863 11487608,11244088,11150334,10985348,10764727,10545116,10544233,10514511,9927421,9915784,9867838,9665396,9368064,8889548,8627329,8614797,8407983,7903404,7541633,7541035,3020711,3008331,3006050,2989274,2850481,1324502,1316918,1281863,15953414,15694321,15258592,15131306,1846035,3022937,18428117,18221326,18203754,18196575,18081157,17971243,17947706,17850422,17696644,17619016,17603629,17582777,17531524,17510309,17492429,17357149,17349981,17287525,17196528,17110619,16951226,16893414,16826429,16704535,16586073,16555252,16460673,16344560,16215672,16099913,15784962,15721744,15701642,15681836,15523689,15489334,15378608,15337528,15310753,15274039,15165637,15015775,14985763,14966521,14689592,14593116,12963025,12913006,12821936,12821676,12789270,12768436,12716928,12682012,12672029,12604596,12477932,12460612,12422217,12414813,12163480,12107411,12034707,12011108,11927634,11818506 4804 NM_002507,AC006487,AC015656,CH471109,M21621,BC050309,BC052797,BQ639556,M14764,CK299927,DA115173 NP_002498,EAW94677,AAA36363,AAH50309,AAB59544,P08138 Hs.415768,Hs.681726 GDB:120234 CD271|Gp80-LNGFR|TNFRSF16|p75(NTR)|p75NTR protein-coding 735398 NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 17355907,2171551,16777077,16189514,15958283,15772651,15489334,15178455,12739005,12477932,11830582,11278287,11238738,10764727,10544233,10514511,7757816 27018 NM_206915,NM_206917,NM_014380,AL606763,CH471190,AF187064,AK057859,AY833562,BC003190,BC051713,BE395284,CD048295,CR593909,CR605989,M38188 NP_996798,NP_996800,NP_055195,EAW54710,EAW54711,EAW54712,AAF75129,AAX40680,AAH03190,AAA63232,AAA63233,Q00994,Q14991 Hs.448588 GDB:9993002 BEX3|Bex|DXS6984E|HGR74|NADE protein-coding 1318334 NGLY1 N-glycanase 1 N-glycanase is a highly conserved enzyme that catalyzes deglycosylation of misfolded N-linked glycoproteins by cleaving the glycan chain before the proteins are degraded by the proteasome (Zhou et al., 2006 [PubMed 17088551]).[supplied by OMIM] 15358861,17088551,17015730,16807242,16055502,15610852,15489334,15362974,14749736,14702039,12477932,11562482,10831608 55768 NM_018297,AC092798,CH471055,AB209549,AF250924,AK001867,AK022471,AL832748,BC000963,BC007226,BC017220,CR611129,CR617659 NP_060767,EAW64362,EAW64363,EAW64364,EAW64365,EAW64366,BAD92786,AAF74720,BAA91950,BAB14048,AAH00963,AAH07226,AAH17220,Q96IV0,Q9HA12,Q9NV10,ABM84435,ABM87500 Hs.368960 GDB:11508427 FLJ11005|FLJ12409|PNG1 protein-coding 1605389 NGRN neugrin, neurite outgrowth associated 11118320,12477932 51335 CR609332,CR609742,CR611334,CR611693,CR613208,CR613572,CR615186,CR615441,CR615702,CR615845,CR622787,CR623804,CR609120,NM_016645,NM_001033088,AC091167,CH471101,AB029315,AF225423,AF242770,AL355700,AL360142,AL834503,AY049780,BC001682,BC007222,BC009389,BC017192,BC019023,BC096824,BG716404,CD242640,CR593883,CR594648,CR595022,CR596066,CR596210,CR597227,CR597444,CR599970,CR600787,CR605690,CR608032 A6NNM8,Q9NPE2,NP_057729,NP_001028260,EAX02096,EAX02097,EAX02098,EAX02099,BAB21533,AAG09725,AAF65447,CAB96088,CAD39160,AAL15437,AAH01682,AAH07222,AAH09389,AAH17192,AAH96824 Hs.513145 DSC92 protein-coding 1343565 NHCP1 non-histone chromosome protein 1 4805 GDB:119450 1605279 NHEDC1 Na+/H+ exchanger domain containing 1 16850186,12477932 150159 NM_001100874,NM_139173,AC018797,AC083826,AC097485,AF224669,CH471057,AF447585,AY461581,BC022079,BC046636,BC110794,BC132712,DQ003059 NP_001094344,NP_631912,EAX06152,EAX06153,EAX06154,EAX06155,EAX06156,EAX06157,EAX06158,AAM22868,AAS91021,AAH22079,AAH46636,AAI10795,AAI32713,AAY21808,Q4ZJI4 Hs.666728 MGC131641 protein-coding 1604997 NHEDC2 Na+/H+ exchanger domain containing 2 Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM] 18000046,17988971,12477932 133308 NM_178833,AC097485,CH471057,AK172823,BC009732,BC047447 NP_849155,EAX06159,EAX06160,EAX06161,BAD18790,AAH09732,AAH47447,Q86UD5 Hs.546482 FLJ23984|NHA2|NHE10 protein-coding 1602683 NHEJ1 nonhomologous end-joining factor 1 Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. 16439205,16439204,18270339,18158905,18046455,17720816,17504121,17470781,17317666,17191205,16828027,16571728,16344560,15815621,15489334,14702039,12604777,12477932,17567543 79840 NM_024782,NG_007880,AC020575,AC068946,AC097468,CH471063,AJ972687,AK022672,BC008210,BC012732,BC030986,CR457291,CR596901,DB124934 NP_079058,AAX88921,EAW70678,CAI99410,BAB14168,AAH08210,AAH12732,AAH30986,CAG33572,Q9H9Q4 Hs.225988 FLJ12610|XLF protein-coding 1321059 NHLH1 nescient helix loop helix 1 The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM] 1580863 16344560,1328219,15489334,12878195,12477932,10603358,1729708,1528853,16189514 4807 NM_005598,AL445230,CH471121,M97507,BC013789,BT006859,DA612092,M96739 NP_005589,CAI15014,EAW52719,AAA58634,AAH13789,AAP35505,Q02575,Q5T203 Hs.30956 GDB:132851 HEN1|NSCL|NSCL1 protein-coding 1317985 NHLH2 nescient helix loop helix 2 1580863 1328219,16710414,16344560,15930276,15489334,14702039,12477932,9455484,1528853 4808 NM_005599,NM_001111061,AL449264,CH471122,M97508,AA166895,AB007959,AK056621,BC028729,BC096359,BC096360,DA608185,M96740 NP_005590,NP_001104531,CAI14533,EAW56637,EAW56638,AAA58635,AAH96359,AAH96360,Q02577 Hs.46296 GDB:132852 HEN2|KIAA0490|NSCL2 1643449 BW98_H protein-coding 1350688 NHLRC1 NHL repeat containing 1 The NHLRC1 gene encodes malin, a single subunit E3 ubiquitin (UBB; MIM 191339) ligase, which contains a RING-HC-type zinc finger and 6 NHL domains and is subclassified as a member of the RING-HCa family (Gentry et al., 2005 [PubMed 15930137]).[supplied by OMIM] 1299634 18263761,18070875,18029386,17337485,16950819,16115820,15930137,15781812,15489334,14574404,12958597,12477932 1299634 378884 AY324850,CH471087,BC103888,BC103889,BC103890,BK001510,NM_198586,AL589723 AAQ19671,EAW55392,AAI03889,AAI03890,AAI03891,DAA01954,Q6VVB1,NP_940988,CAH71232 Hs.348351 EPM2A|EPM2B|MALIN|MGC119262|MGC119264|MGC119265|bA204B7.2 protein-coding 1316494 NHLRC2 NHL repeat containing 2 737633,1580863 14702039,12477932 737633 374354 NM_198514,AL162407,AL592546,AL627429,CH471066,AK000154,AK090631,AK098487,AK126751,AL832090,BC013743,BC032598,BX538287,BX647641,CR593205,BX647663 NP_940916,CAI12636,CAH73013,EAW49486,EAW49487,EAW49488,BAA90979,BAC03493,BAC05316,BAC86672,AAH32598,CAD98082,Q6ZTC1,Q7Z658,Q8NBF2,Q9NXN1 Hs.369924,Hs.594372 DKFZp779F115|FLJ20147|FLJ25621|FLJ33312|MGC45492 protein-coding 1605503 NHLRC3 NHL repeat containing 3 12477932 387921 NM_001012754,NM_001017370,AL445590,CH471075,AL833329,BC052492,BX647872,BX648122,CR601315,CR613108,CR625961,CR749318 NP_001017370,CAI40978,EAX08612,EAX08613,EAX08614,EAX08615,CAH10395,CAH18173,Q5JS37,Q5JS38,NP_001012772,Q68DP7 Hs.507783 DKFZp313M1221|DKFZp686E1140 protein-coding 1347136 NHP2L1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. 1580863 10593953,12226669,8978773,18044964,16169070,15635413,15489334,15461802,12477932,12429849,12417735,12011111,11790298,11163207,10591208,10545122,16189514 4809 NM_001003796,NM_005008,CH471095,CQ840914,Z83840,AF091076,AF155235,BC005358,BC019282,BC095439,BG164621,BI770951,CF552526,CR456531,CR541725,CR591470,CR593004,CR593383,CR593477,CR595064,CR596973,CR598655,CR600000,CR600974,CR602484,CR605954,CR609358,CR612873,CR613725,CR614137,CR616990,CR616994,CR623174,CR623311,D50420 NP_001003796,NP_004999,EAW60450,EAW60451,EAW60452,EAW60453,CAH05699,CAB46207,CAQ09821,CAQ09822,AAC72945,AAF06959,AAH05358,AAH19282,AAH95439,CAG30417,CAG46526,BAA23363,P55769,Q6FHM6,CAK54562,CAK54861 Hs.182255 GDB:582626 15.5K|NHPX|OTK27|SNU13 protein-coding 1352036 NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein may function during the development of the eyes, teeth, and brain. Mutations in this gene have been shown to cause Nance-Horan syndrome. An alternative splice variant has been described, but its full-length nature has not been determined. 1598795 17417607,17081983,16964243,16675532,15772651,15623749,15466011,14564667,12173028,10394933,1971992 1598795 4810 AY436752,AY456992,AY456993,BQ017161,CR749300,CR936788,NM_198270,AC122692,AL034404,AL845433,BX294650 AAR03104,AAS13455,AAS13456,CAH18155,Q6T4R5,NP_938011 Hs.201623 GDB:120235 DKFZp781F2016|DKFZp781L0254|SCML1 protein-coding 1349811 NHSL1 NHS-like 1 15466011,12477932,10718198 57224 XM_496826,XM_001723403,XM_941807,AL391669,AL590611,AL590617,AL591375,CH471051,AB037778,AK000699,AK025199,AK025347,BC020940,BC045181,BX647246 XP_496826,XP_001723455,XP_946900,CAI14156,CAI14157,CAI12098,CAI12099,EAW47916,BAA92595,AAH45181,Q3ZCS5,Q5SYE7,Q5SYE8,Q9P2J0 Hs.652741 C6orf63 protein-coding 1603499 NHSL2 NHS-like 2 12477932 340527 NM_001013627,BX119917,BC033261,BC136756 NP_001013649,CAI39853,AAI36757,Q5HYW2 Hs.679776 RP11-262D11.5 protein-coding 1605926 NIBP trafficking protein particle complex 9 NIBP binds NIK (MIM 604655) and IKK-beta (IKBKB; MIM 603258) and plays a role in the neuronal NF-kappa-B (see MIM 164011) signaling pathway (Hu et al., 2005 [PubMed 15951441]).[supplied by OMIM] 15951441,14702039,12676587,12477932,11572484 83696 AC007869,AC021636,AC021744,AC040978,AC091022,AC104244,AC115836,CH471060,AB067469,AK026394,AK027689,AK128755,AL833973,AY190606,AY630619,BC003650,BC006206,BC065288,NM_031466 NP_113654,EAW92200,EAW92201,BAB67775,BAB55299,BAC87600,CAH56384,AAO38740,AAV31908,AAH03650,AAH06206,AAH65288,Q4VTT3,Q658K7,Q6P149,Q6ZQT3,Q7L5C4,Q86Y21,Q96Q05,Q96SL2,Q9BQA2 Hs.654911 IBP|IKBKBBP|KIAA1882|MGC4737|MGC4769|T1|TRS120 protein-coding 1350970 NICN1 nicolin 1 This protein encoded by this gene localizes to the nucleus and is expressed in numerous tissues including brain, testis, liver, and kidney. This refseq contains genomic sequence in its 3' UTR which is not supported by experimental evidence. Computer predictions indicate that this region of the 3' UTR contains hairpin-forming self-complementary sequence which is possibly excised after transcription. This gene has a pseudogene on chromosome X. 1580863 15489334,14702039,12487019,12477932,12392556 84276 NM_032316,AC104452,CH471055,AF538150,AJ299740,AK094248,BC005050,BC050653,CR613547 NP_115692,EAW64987,EAW64988,AAN52734,CAC82516,AAH05050,AAH50653,Q9BSH3 Hs.191460 GDB:11506328 MGC12936 protein-coding 1353844 NICN2P nicolin 2, pseudogene 12392556 171176 NG_005534,AL591503 GDB:11508955 pseudo 737172 NID1 nidogen 1 This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. 1580863 11574465,11493006,11419941,11376898,9733643,9686320,9647658,9501082,9299350,9278415,8995276,8831898,8354280,7867626,7557988,7500359,2574658,2506015,2471408,2180767,2119632,1906509,1680863,1499567,17328794,17008882,16710414,16344560,15489334,15231748,15146197,12931195,12477932,12180907,12005023,11956183,11847210,11733994 4811 NM_002508,AL122018,AL139161,CH471098,X82245,AB209448,BC012501,BC045606,BQ549657,CN267119,CR590230,CR609449,CR611614,DA269707,DN999415,M27445,M30269 NP_002499,CAI22680,CAI22681,EAW70039,EAW70040,EAW70041,CAA57709,BAD92685,AAH45606,AAA57261,AAA59932,P14543 Hs.356624 GDB:120236 NID nidogen (entactin) protein-coding 1323271 NID2 nidogen 2 (osteonidogen) Basement membranes, which are composed of type IV collagens (see MIM 120130), laminins (see LAMC1; MIM 150290), perlecan (HSPG2; MIM 142461), and nidogen (see NID1; MIM 131390), are thin pericellular protein matrices that control a large number of cellular activities, including adhesion, migration, differentiation, gene expression, and apoptosis.[supplied by OMIM] 1580863 9733643,17328794,17008882,16344560,12477932,12475645,12005023,11956183,11733994,10544250,8889548,16189514 22795 NM_007361,AB009799,AL118557,AL358333,CH471078,AJ223500,AK291652,AL701794,AU119925,BC035608,BM719690,BX648241,CA413165,D86425 NP_031387,BAA24112,EAW65658,CAA11418,BAF84341,AAH35608,CAI56714,BAA13087,Q14112,Q5CZI2,Q8IV28 Hs.369840 GDB:9956707 protein-coding 1349833 NIDDM1 non-insulin-dependent diabetes mellitus (common, type 2) 1 8640221 4812 GDB:1230512 1351836 NIDDM2 non-insulin-dependent diabetes mellitus (common, type 2) 2 8782826 4813 GDB:1381542 1321170 NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. pombe) 15163635,16713569,16189514,15489334,14702039,12951069,12522100,12477932,11161814,11124544,9373149,8125298 60491 AC005037,NM_021824,CH471063,AB038949,AF060513,AF182416,AF283538,AK023378,AK225905,AL834430,AY251943,AY251944,BC007654,CR603298,CR603804,CR608678,CR610276,CR611085,CR612823,CR617153,CR620321 NP_068596,AAY14724,EAW70224,EAW70225,EAW70226,EAW70227,BAB32499,AAG43131,AAG14952,AAG44846,BAB14551,CAH56370,AAP84063,AAP84064,AAH07654,Q53TX4,Q658J0,Q6X734,Q6X735,Q9GZT8,ABM87611 Hs.145284 GDB:11499744 ALS2CR1|CALS-7|MDS015 protein-coding 1315140 NIN ninein (GSK3B interacting protein) This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. 15147888,16154161,12927815,17698918,17383637,17102634,16254247,15784680,15489334,15190203,15087377,15048123,14702039,14503922,12477932,12403812,12168954,11956314,11162463,11004522,10997877,9506584,8889548 51199 AA742651,AB046785,AF186776,AF212162,AF223937,AF223938,AF223939,AF302773,AK025652,AK026083,AK027054,AL359571,AW505195,AY027794,AY027795,AY027796,NM_020921,NM_182946,NM_016350,NM_182944,AL133485,AL606834,CH471078,AY736183,AY736182,AY764156,BC034708,BC065521,BC090932,BM721510,CB241926,CR993064 EAW65697,EAW65698,EAW65699,EAW65700,EAW65701,BAB13391,AAG17027,AAF23015,AAK00628,AAK00629,AAK00630,AAG33512,BAB15640,AAK27375,AAK27376,NP_065972,NP_891991,NP_057434,NP_891989,EAW65692,EAW65693,EAW65694,EAW65695,EAW65696,AAU86898,AAK27377,AAU86899,AAV37179,AAH34708,AAH65521,AAH90932,Q5BKU3,Q5UBV5,Q5UBV6,Q5XUU0,Q8N4C6 Hs.310429 GDB:11500634 KIAA1565 protein-coding 737046 NINJ1 ninjurin 1 729059,1580863 12477932,9261151,17893696,17825431,15489334,15464245,15164053,14702039,9465296,8780658 729059 4814 U91512,NM_004148,AF029251,AL451065,CH471089,AK094530,BC000298,BC004440,BC019336,BC048212,BT007164,CR595190,CR608271,U72661 AAB17560,AAC14593,Q92982,NP_004139,AAC39574,CAI95111,EAW62856,AAH00298,AAH04440,AAH19336,AAH48212,AAP35828 Hs.494457 GDB:6284937 NIN1|NINJURIN protein-coding 1352493 NINJ2 ninjurin 2 Cell adhesion molecules mediate cell-to-cell and cell-to-extracellular matrix interactions during development, differentiation, and regeneration of the peripheral nervous system. NINJ2 is upregulated in Schwann cells in the distal nerve segment after peripheral nerve injury and can promote neurite outgrowth.[supplied by OMIM] 724399,1580863 10627596,17081983,15489334,12477932 724399 4815 NM_016533,AC006205,AC021054,CH471116,AF205633,BC057766,BI597990 NP_057617,EAW88959,EAW88960,AAF42828,AAH57766,Q9NZG7,AAI48621,AAI53187 Hs.656450 GDB:6285307 protein-coding 1345024 NIP1L NIP1 nuclear import protein-like (S. cerevisiae) 4816 GDB:3770729 1605044 NIP30 NEFA-interacting nuclear protein NIP30 16381901,16344560,15489336,15489334,14702039,12477932,11256614,11230166,11076863 80011 AC009090,CH471092,AF212249,AF271785,AF356585,AK023291,AK025452,AL834421,BC020536,BC063409,BC071952,BI545617,CA308353,CR593181,CR597243,CR597609,CR602966,CR603729,CR616426,CR625120,DB101263,NM_024946 NP_079222,EAW82904,EAW82905,EAW82906,EAW82907,EAW82908,AAK14932,AAG44796,AAK43697,BAB14512,BAB15136,CAD39082,AAH20536,AAH63409,AAH71952,Q0JTC4,Q6P4H7,Q9GZU8,CAL37989,CAL38239,ABM82615,ABM85909 Hs.396740 CDA018|CDA10|FLJ21799|MGC74898 protein-coding 732109 NIP7 nuclear import 7 homolog (S. cerevisiae) 14660641,17643419,16341674,16189514,15635413,15522784,15489334,14702039,12477932,12429849,12417987,11042152,10810093 51388 AC026464,CH471092,AB062398,AB062479,AB112439,AF085360,AF132971,AF161528,AK001158,BC015941,BM754629,CR616954,NM_016101 ABM85217,NP_057185,EAW83270,EAW83271,BAB93485,BAB93504,BAD05056,AAD40195,AAD27746,AAF29143,AAH15941,Q9Y221,ABM82037 Hs.705643 CGI-37|FLJ10296|HSPC031|KD93 saccharomyces cerevisiae nip7p homolog protein-coding 1606742 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 This gene encodes a potential transmembrane protein which may function as a receptor or transporter molecule. This protein may play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. 18191948,17928003,17420921,17205300,17166836,16982806,16335952,16267846,15711826,15643603,14508710,14508708,12805275,12477932,8618696,7825577 123606 NM_144599,AC011767,CH471258,AB089319,AK057846,AK314073,BC025678,BC103705,BK001020,BX648722,CR599873,CR614719 NP_653200,EAW65549,EAW65550,EAW65551,BAC67707,BAG36773,AAH25678,AAI03706,DAA01477,CAI45979,Q3SYP4,Q7RTP0,Q8TAY1,AAI56248,ABM82178,ABM85364 Hs.511797 FSP3|MGC102724|MGC35570|SPG6 protein-coding 1348761 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 1580863 16982806,15489334,15317751,15067324,14702039,14508708,12477932,8619474 81614 NM_001008894,NM_001008892,NM_001008860,NM_030922,AC011767,CH471258,AK096305,AY732242,BC000957,BC011775,BK001120,CR598795,CR606982,CR625512,U90904 NP_001008894,NP_001008892,NP_001008860,NP_112184,EAW65552,EAW65553,EAW65554,BAC04757,AAU34000,AAH00957,AAH11775,DAA01509,Q8N8Q9 Hs.591003 MGC5466 protein-coding 1604032 NIPBL Nipped-B homolog (Drosophila) This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. 18299561,17661813,17264868,17106445,17081983,16964243,16565220,16236812,15882967,15635413,15591270,15489334,15318302,15302935,15146197,15146186,15146185,14702039,12477932 25836 NM_133433,NM_015384,NG_006987,AC008902,AC026741,CH471119,AA508213,AJ627032,AJ640137,AK002065,AK022659,AK023416,AK023710,AK126804,AK290347,AL137726,AY726600,BC032711,BC033847,BC063859,BC131490,BC146821,BK005151,BQ723324,BX538177,BX538178,BX640644,CN369580 NP_597677,NP_056199,EAW55948,EAW55949,EAW55950,CAF25290,CAG26691,BAC86701,BAF83036,AAH33847,AAI31491,AAI46822,DAA05331,CAD98051,CAD98052,CAE45790,Q6IEH8,Q6KC79 Hs.481927 CDLS|CDLS1|DELANGIN|DKFZp434L1319|FLJ11203|FLJ12597|FLJ13354|FLJ13648|FLJ44854|IDN3|IDN3-B protein-coding 1321311 NIPSNAP1 nipsnap homolog 1 (C. elegans) NIPSNAP1 protein has a strong sequence similarity to the central portion of a hypothetical protein encoded by C. elegans chromosome III between a 4-nitrophenylphosphatase (NIP) domain and non-neuronal SNAP25-like protein. The NIPSNAP1 gene is located between the NF2 and pK1.3 genes on 22q12. Its function is unknown. 1580863 15489334,12925885,12477932,11895482,9661659 8508 NM_003634,AC005529,AJ001258,AK098367,AK290953,BC002371,BC006473,BC018869,CR592474,CR596420,CR598746,CR598880,CR599055,CR599169,CR600931,CR602356,CR612637,CR613296,CR616726,CR618911,CR623198,CR623297 NP_003625,CAA04632,BAF83642,AAH02371,AAH06473,Q9BPW8 Hs.173878 GDB:9864989 protein-coding 1352624 NIPSNAP3A nipsnap homolog 3A (C. elegans) NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM] 737633 15489334,15177564,14702039,12477932,12427096 737633 25934 NM_015469,AL359846,CH471105,AF161417,AK024015,AL117557,BC005935,BC045830,CR598382,CR600273,CR604631,CR609627,CR613000,CR613526,CR615189,CR621160,CR622522 NP_056284,CAH73580,EAW58990,AAF28977,BAB14777,AAH05935,CAB55992,Q5VX32,Q9UFN0 Hs.591897 DKFZp564D177|FLJ13953|HSPC299|MGC14553|NIPSNAP4|TASSC protein-coding 1348563 NIPSNAP3B nipsnap homolog 3B (C. elegans) NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM] 737633 11352567,15489334,15177564,14702039,12477932 737633 55335 NM_018376,AF287262,AL359846,CH471105,AK002137,BC005202,BC017914,BX647652 NP_060846,AAK43527,CAH73582,EAW58991,BAA92101,AAH05202,AAH17914,Q5VX30,Q9BS92 Hs.567532 FLJ11275|NIPSNAP3 protein-coding 1315855 NISCH nischarin 1581128 16598778,15475348,15028623,15028622,15028621,15028619,14702039,12868002,12865160,12477932,12021582,11912194,10882231,10231032,9851558 1581128 11188 NM_007184,AC006208,CH471055,AB023192,AF058290,AF082516,AI889216,AK001505,AK027331,AK027428,AK075000,AK097732,AK291398,AL117432,AL703940,BC038102,BC050552,BC054494,BC056900,CR622669,CR623596,DB496030 NP_009115,EAW65228,EAW65229,EAW65230,EAW65231,BAA76819,AAC33321,AAC33104,BAF84087,CAB55920,AAH38102,AAH54494,AAH56900,Q6PGP3,Q6PIB4,Q7L8M3,Q7Z2X6,Q9UES6,Q9UEU4,Q9Y2I1 Hs.435290 GDB:11506330 FLJ14425|FLJ40413|FLJ90519|I-1|IRAS|KIAA0975 protein-coding 1349751 NIT1 nitrilase 1 1302481 9671749,16864578,15489334,15231748,12477932 1302481 4817 NM_005600,AF069984,AL591806,CH471121,AF069987,BC046149,CR541814,CR541846,CR593362,CR602066,CR606194,CR609891,CR616950,CR618564,CR622990,CR626659 NP_005591,AAC39901,CAI15379,CAI15380,EAW52654,EAW52655,EAW52656,EAW52657,AAC39907,AAH46149,CAG46613,CAG46644,Q5SY58,Q5SY59,Q86X76 Hs.146406 GDB:9836472 MGC57670 protein-coding 1346727 NIT2 nitrilase family, member 2 737633 17488281,12477932,10959838,9373149,8125298 737633 56954 NM_020202,AC093003,CH471052,AF260334,AF284574,AK225979,BC020620,BC107890 NP_064587,EAW79824,EAW79825,AAG44665,AAF87103,AAH20620,AAI07891,Q9NQR4,ABM84061,ABM87415 Hs.439152 MGC111199 protein-coding 1606507 NKAIN1 Na+/K+ transporting ATPase interacting 1 16710414,15489334,14702039,12477932,17606467 79570 NM_024522,AC114495,CH471059,AK022712,AL832547,BC096707,BC098173,BC098249,BC131518,CR623394 NP_078798,EAX07628,EAX07629,BAB14196,AAH96707,AAH98173,AAH98249,AAI31519,Q4KMZ8 Hs.470259 FAM77C|FLJ12650 protein-coding 1349938 NKAIN2 Na+/K+ transporting ATPase interacting 2 17606467,15908570,14702039,14574404,12477932,11979551 154215 AL035692,AL109842,AL121968,AL136081,AL136107,AL136224,AL354936,AL356278,AL356605,AL450343,AL451135,AL451183,AL512376,CH471051,AB070452,AK055326,AK315886,BC035062,DB503487,NM_001040214 CAI19752,CAI19753,CAI20108,CAH73091,CAH73092,CAH73593,CAH73594,EAW48156,BAB85477,BAF98777,AAH35062,Q5VXU1,NP_001035304 Hs.656604 GDB:11508858 FAM77B|MGC41924|TCBA1 protein-coding 1606659 NKAIN3 Na+/K+ transporting ATPase interacting 3 17606467,14702039 286183 NM_173688,AC018861,AC023095,AC068937,AC087358,AC090577,AC091554,AC120042,CH471068,AK096949 NP_775959,EAW86858,EAW86859,BAC04909,Q8N8D7,AAI46367 Hs.654662 FAM77D|FLJ39630 protein-coding 1314067 NKAIN4 Na+/K+ transporting ATPase interacting 4 17606467,15489334,12477932,11780052,9373149,8125298 128414 NM_152864,CH471077,AK126246,AK225765,BC041812 NP_690603,EAW75297,EAW75298,EAW75299,EAW75300,EAW75301,AAH41812,Q4VXQ7,Q4VXQ8,Q4VXQ9,Q8IVV8 Hs.46627 GDB:11505236 C20orf58|FAM77A|bA261N11.2 protein-coding 1606506 NKAP NFKB activating protein 17237249,17081983,16189514,16097034,15489334,15345747,15302935,15297971,14702039,14550261,12477932 79576 NM_024528,AC002477,CH471161,AK026279,AK094446,AL832118,AY388958,BC000940,BC012770,BC015354,BC016783,BC018968,BC032442,BC071686,CR620788 NP_078804,EAW89838,BAB15428,AAQ90402,AAH15354,AAH16783,AAH18968,AAH32442,AAH71686,Q05D22,Q8N5F7 Hs.522771 FLJ22626 protein-coding 1323244 NKAPL NFKB activating protein-like 15489334,14574404,12477932 222698 NM_001007531,AL390721,CH471081,AF085870,BC038240,BC101681,BC101685 NP_001007532,CAC69824,EAX03145,EAX03146,AAH38240,AAI01682,AAI01686,Q5M9Q1 Hs.239181 C6orf194|MGC126730|MGC126734|bA424I5.1 protein-coding 1318289 NKD1 naked cuticle homolog 1 (Drosophila) In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM] 15687260,16567647,12477932,11752446,11604995,11356022,11274398 85407 NM_033119,AC007608,CH471092,AB062886,AF289584,AF358135,AY061883,BC051288 NP_149110,EAW82761,BAB70500,AAL55768,AAK57484,AAL32374,AAH51288,Q969G9 Hs.592059 GDB:11506332 Naked1 protein-coding 1322930 NKD2 naked cuticle homolog 2 (Drosophila) In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM] 1580863 15064403,17553928,16752383,12477932,11604995,11356022 85409 NM_033120,AC116351,CH471102,AB062887,AF358137,BC004940,BC012176 NP_149111,EAX08182,EAX08183,EAX08184,BAB70501,AAK57486,AAH04940,AAH12176,Q969F2 Hs.240951 GDB:11506334 Naked2 protein-coding 1347836 NKG7 natural killer cell group 7 sequence 1580863 8458737,15489334,12477932,7510105 4818 NM_005601,AC008750,AF305941,CH471135,U09608,AI313472,BC015759,S69115 NP_005592,AAG32329,EAW72006,EAW72007,EAW72008,AAA18209,AAH15759,AAB30078,Q16617,ABM86868,ABW03870 Hs.10306 GDB:138276 GIG1 protein-coding 1318403 NKIRAS1 NFKB inhibitor interacting Ras-like 1 10657303,18434448,15761153,15489334,15024091,14702039,12672800,12477932 28512 NM_020345,AC124914,CH471055,DQ314881,AF229839,AK027749,BC012145,BC066940,BG713995,CR600782,CR602142,CR606911 NP_065078,EAW64335,EAW64336,ABC40740,AAF34998,BAB55341,AAH12145,AAH66940,Q9NYS0,ABW03916 Hs.173202 KBRAS1|kappaB-Ras1 protein-coding 1316518 NKIRAS2 NFKB inhibitor interacting Ras-like 2 1580863 10657303,18434448,15489334,14702039,12477932 28511 NM_001001349,NM_017595,AC105024,CH471152,DQ314882,AF229840,AK027265,AK054571,AL137682,BC007316,BC007450,BC009059,BC063498,BG717103,CR595468,CR598071,CR618051 NP_001001349,NP_060065,EAW60790,EAW60791,EAW60792,EAW60793,EAW60794,ABC40741,AAF34999,BAB55006,CAB70873,AAH07450,AAH63498,Q9NYR9,ABM84159,ABM87562 Hs.632252 DKFZP434N1526|KBRAS2|MGC74742|kappaB-Ras2 protein-coding 1323472 NKPD1 NTPase, KAP family P-loop domain containing 1 15935074,14702039,12477932 284353 NM_198478,AC005757,AK090919,BC117228 NP_940880,BAC03547,AAI17229,Q17RQ9 Hs.299256 FLJ33600 protein-coding 1343355 NKRF NFKB repressing factor This gene encodes a transcription factor that interacts with specific negative regulatory elements (NREs) to mediate transcriptional repression of certain NK-kappa-B-responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. 1580863 10562553,17592041,17186550,16107696,15489334,15226370,14744032,12477932,12429849,12381793,9224902 55922 NM_017544,AC004913,CH471161,AJ011812,AY208891,BC040379,BC047878,BC068514,CR591991,EF165092,EF165094,EF216688,EF216689,Y07707 NP_060014,EAW89859,EAW89860,CAB56459,AAP43025,AAH40379,AAH47878,AAH68514,ABM55377,ABM55379,ABN11234,ABN11235,CAA68976,O15226,Q6NUN2 Hs.437084 ITBA4|NRF nf-kappab repressing factor protein-coding 1345555 NKS1 natural killer cell susceptibility 1 1979875 4819 GDB:128100 1353165 NKTR natural killer-tumor recognition sequence This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. 1580863 8421688,17081983,14729963,14702039,12477932,8413330,8314596,8144875,1720812 4820 BC020672,BC035644,BC051318,BC072680,BU632018,BX538094,BX640751,BX641127,BX957215,BX957218,CR749571,L04288,S65996,CR749415,NM_005385,AC006059,AC092047,AF184110,CH471055,AA493639,AB209888,AK097208,AK126234,AK292017 BAF84706,AAH72680,CAE45859,CAE46057,CAF29506,CAF29508,CAH18366,AAA35734,AAB28499,P30414,Q16060,Q59EC3,Q6GQR0,Q6M1B6,Q6M1B8,Q6MZH6,Q6N014,CAH18257,NP_005376,AAD56402,EAW64659,EAW64660,EAW64661,BAD93125 Hs.529509 GDB:137171 DKFZp686F1754|DKFZp686G0426|DKFZp686J06106|DKFZp686N24126|MGC90527|p104 protein-coding 1603306 NKX1-1 NK1 homeobox 1 7518789 54729 XM_926341,XM_937659,XM_001715809,AC118281,X76978 XP_931434,XP_942752,XP_001715861,CAA54282,Q15270 Hs.526396 HSPX153|SAX2 protein-coding 1315537 NKX1-2 NK1 homeobox 2 15146197,10681422 390010 XM_372331,XM_001724117,XM_940698,AL445237,CH471066,CN285329 XP_372331,XP_001724169,XP_945791,EAW49270,Q9UD57 Hs.712041 C10orf121|bB238F13.2 protein-coding 732483 NKX2-1 NK2 homeobox 1 729951,1600157,1600158,1580863,2290483 7711080,7713914,18379122,18081917,18071837,18059234,17765926,17702043,17671725,17640327,17616654,17413979,17412341,17220277,17182767,17044090,16980598,16960125,16630564,16613858,16565516,16461352,16314749,16260629,16220345,15955952,15929662,15548547,15489334,15485815,15449938,15279903,15271884,15173172,15098009,14970209,14720435,14633512,12923324,12684771,12499091,12477932,12441357,12408771,12161428,12051643,12040027,11971878,11957142,11953175,11923479,11854319,11854318,11836702,11733512,11713256,11438542,11274148,11076796,10733581,10617585,9988700,9545595,9396717,8889548,7711079,1976511 729951,1600157,1600158,2290483 7080 X82850,NM_001079668,NM_003317,AL132857,CH471078,D50739,U19816,U33627,BC006221,BE796718,BM970838,BT009773,CR600885,CR604190,D50740,D50741,U19756,U33749,U43203 AAA89066,CAA58053,O14956,P43699,Q13306,Q7KZF6,ABM83890,ABM87210,NP_001073136,NP_003308,EAW65856,EAW65857,EAW65858,EAW65859,BAA23527,AAC50125,AAA83233,AAH06221,AAP88775,BAA23529,BAA23528,AAA86099,AAB52381 Hs.705388 GDB:132588 BCH|BHC|NK-2|NKX2.1|NKX2A|TEBP|TITF1|TTF-1|TTF1 protein-coding 1318213 NKX2-2 NK2 homeobox 2 The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. 1580863 1346742,17335795,16873704,16697960,15489334,14573534,12477932,11780052,10818213,10772886,9703340 4821 NM_002509,AF019414,AF019415,AF184045,AL133325,CH471133,BC075092,BC075093,BM314196,BQ632044,CA772329 NP_002500,AAC83132,AAG16976,CAC00770,EAX10183,AAH75092,AAH75093,O95096,Q9HBZ5,ABZ92170 Hs.516922 GDB:132589 NKX2.2|NKX2B protein-coding 1318340 NKX2-3 NK2 transcription factor related, locus 3 (Drosophila) NKX2C is a member of the NKX family of homeodomain-containing transcription factors, which are implicated in many aspects of cell type specification and maintenance of differentiated tissue functions. See Harvey (1996) [PubMed 8812123] for a review of the structure, regulation, function, and evolution of NK2 homeobox genes with an emphasis on their roles in heart development.[supplied by OMIM] 1580863 18438406,18438405,17554261,15489334,15164054,12477932,12141427,11457859,10207146,9142493,8812123,1346742 159296 NM_145285,AF229630,AF229631,AL353719,CH471066,BC025788,BI764885 NP_660328,AAF44651,CAI16899,EAW49867,AAH25788,Q8TAU0 Hs.243272 GDB:132590 CSX3|NKX2.3|NKX2C|NKX4-3 protein-coding 1343785 NKX2-4 NK2 homeobox 4 11780052,10818213,1346742 644524 NM_033176,AF202037,AL133325,AL158013,CH471133 NP_149416,AAG35617,CAH71494,EAX10185,Q5VZV8,Q9H2Z4 Hs.456662 GDB:132591 NKX2.4|NKX2D protein-coding 1606841 NKX2-5 NK2 transcription factor related, locus 5 (Drosophila) Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called 'tinman' is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for Drosophila heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart formation.[supplied by OMIM] 11431700,12499378,9651244,10206974,18219441,18084293,18079734,18076106,17891434,17584735,17308084,16418214,16138909,16137232,15917268,15653675,15649947,15542826,15489334,15363409,15342699,15340050,15161646,14607454,14500364,12858532,12858530,12798584,12775767,12477932,12414819,12122109,12074273,12023302,11889119,11714651,10948187,10903346,10587520,9858576,9748262,9312027,8900537,8887666,7665173,12845333,16189514 1482 NM_004387,AC008412,CH471062,AB021133,AK290615,BC025711,U34962 NP_004378,EAW61404,BAA35181,BAF83304,AAH25711,AAC50470,P52952,ABM84239,ABM85030,ABM87626 Hs.54473 GDB:451951 CSX|CSX1|NKX2.5|NKX2E|NKX4-1 protein-coding 1603362 NKX2-6 NK2 transcription factor related, locus 6 (Drosophila) Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]). It has been demonstrated that a Drosophila homeobox-containing gene called 'tinman' is essential for development of the heart-like dorsal vessel. NKX2-6 is a vertebrate homolog of 'tinman' (Newman and Krieg, 1998 [PubMed 9621430]).[supplied by OMIM] 15649947,15146197,9621430,7665173 137814 XM_070619,XM_001716458,XM_939389,AC012574,CN272646 XP_070619,XP_001716510,XP_944482,A6NCS4 Hs.532654 CSX2|NKX4-2 protein-coding 1321643 NKX2-8 NK2 homeobox 8 1580863 9446603,15235609,12477932,12167706,11252173 26257 NM_014360,AF000297,AL079303,AF000295,BC041090 NP_055175,AAC71082,AAC71081,AAH41090,O15522,Q8IUT7 Hs.234763 GDB:11508844 NKX2.8|NKX2H|Nkx2-9 protein-coding 1313354 NKX3-1 NK3 homeobox 1 The homeodomain-containing transcription factor NKX3A is a putative prostate tumor suppressor that is expressed in a largely prostate-specific and androgen-regulated manner. Loss of NKX3A protein expression is a common finding in human prostate carcinomas and prostatic intraepithelial neoplasia.[supplied by OMIM] 1580863 17234752,11137288,9537602,18077445,17486276,17311278,17202838,17108105,16845664,16817226,16814806,16697957,16581776,16519150,16442598,16413692,16397218,16382041,16201967,15880262,15734999,15691383,15523673,15489334,15311057,14648854,14633588,12661036,12477932,12450213,11980664,11809674,11085535,10993896,10559189,9377551,9226374 4824 NM_006167,AC012574,AC051642,CH471080,AF247704,AF249669,AF249670,AF249671,AF249672,BC074863,BC074864,U80669,U91540 NP_006158,EAW63613,AAG09781,AAG39735,AAG39736,AAG39737,AAG39738,AAH74863,AAH74864,AAB38747,AAB68662,Q99801,ABZ92171 Hs.55999 GDB:6065014 BAPX2|NKX3|NKX3.1|NKX3A protein-coding 1353604 NKX3-2 NK3 homeobox 2 This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. 1580863 9426254,9256352,9344671,15489334,15024065,12477932,11076863 579 NM_001189,AC006445,AF005260,AF009802,CH471069,U89845,AF009801,BC111966 NP_001180,AAC39536,AAB82784,EAW92714,AAB49696,AAB82783,AAI11967,P78367,AAI11927,AAI18498,ABZ91996 Hs.590927 GDB:9786298 BAPX1|MGC138171|NKX3.2|NKX3B protein-coding 1346979 NKX6-1 NK6 homeobox 1 In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM] 1580863 10567713,18347054,16873704,15839736,15056733,9119408 4825 NM_006168,AC096766,CH471057,U66797,U66798,U66799 NP_006159,EAX05949,AAD11962,P78426,AAI60030 Hs.546270 GDB:4512631 NKX6.1|NKX6A protein-coding 1316381 NKX6-2 NK6 homeobox 2 1580863 11210186,12477932 84504 NM_177400,AF184215,AL392043,CH471211,BC101635,BC104823,BF509028 NP_796374,AAK13251,CAI39943,EAW61308,AAI01636,AAI04824,Q9C056 Hs.134013 GDB:11510746 GTX|MGC126684|NKX6.2|NKX6B protein-coding 1605569 NKX6-3 NK6 homeobox 3 The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM] 16326147,12477932 157848 NM_152568,AC009630,CH471080,AK057898 A6NJ46,AAI56230,NP_689781,EAW63251,EAW63252,BAB71610,AAI57003 Hs.647132 FLJ25169|NKX6.3 protein-coding 1604007 NLE1 notchless homolog 1 (Drosophila) 15489334,14702039,12477932,12429849,11124703,16189514 54475 AK001320,AW451963,BC002884,BC012075,BI752930,CR590297,CR598429,CR606426,CR615350,CR621507,CR623995,CR624634,NM_018096,AC022916,CH471147,AB209111,AJ005257,NM_001014445 CAA06444,BAA91621,AAH02884,AAH12075,Q59GJ8,Q9NVX2,NP_001014445,NP_060566,EAW80165,EAW80166,EAW80167,BAD92348 Hs.85570 FLJ10458|Nle protein-coding 736453 NLGN1 neuroligin 1 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. 1580863 16882988,16641997,15797875,15489334,14702039,14522992,12477932,10996085,10892652,10819331,10470851,9278515,8576240,7736595 22871 AC131158,CH471052,AB028993,AK074522,BC032555,CB052838,NM_014932,AC008082,AC008120,AC018456,AC069531,AC092923,AC092967,AC110871 EAW78453,EAW78454,EAW78455,EAW78456,BAA83022,BAC11039,AAH32555,Q8N2Q7,ABM82165,ABW03367,NP_055747 Hs.478289 GDB:9957229 KIAA1070|MGC45115 protein-coding 732705 NLGN2 neuroligin 2 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. 1580863 10892652,12669065,10996085,10819331,10767552,10718198,9647694,9278515,8576240,12477932 57555 NM_020795,AC113189,CH471108,AB037787,AF376802,BC069217 NP_065846,EAW90195,EAW90196,EAW90197,BAA92604,AAM46111,Q8NFZ4 Hs.26229 GDB:11506336 KIAA1366 protein-coding 733571 NLGN3 neuroligin 3 This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but their full length sequences have not been determined. 1580863 9751164,10767552,18189281,17292328,16648374,16508939,16303743,15622415,15274046,14702039,12669065,12477932,11329178,10996085,10819331,9325340,9278515,8576240,15389766 54413 BX641059,NM_018977,AF217413,AL590764,CH471132,AB040913,AF217411,AF217412,AK074814,BC028738,BC051715 AAH51715,CAE46030,Q4G160,Q6MZK0,Q86V51,Q9NZ94,NP_061850,AAF71232,AAF71233,EAX05307,EAX05308,EAX05309,EAX05310,EAX05311,EAX05312,EAX05313,BAA96004,AAF71230,AAF71231,BAC11226,AAH28738 Hs.438877 GDB:11500636 ASPGX1|AUTSX1|HNL3|KIAA1480 protein-coding 1603020 NLGN4X neuroligin 4, X-linked This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs, large (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene. 18189281,17292328,16648374,16508939,15622415,15489334,15389766,15340161,15274046,14963808,14702039,12975309,12669065,12477932,11368788,10996085,10574462,9278515 57502 NM_181332,NM_020742,AC078989,AC079173,AC097259,AC112654,CH471074,AB033086,AF376803,AK022621,AK055471,AK291036,AY358562,BC034018,BM995742,CR608080 NP_851849,NP_065793,EAW98738,EAW98739,EAW98740,EAW98741,BAA86574,AAM46112,BAF83725,AAQ88925,AAH34018,Q8N0W4,ABM84537,ABW03469 Hs.21107 ASPGX2|AUTSX2|HLNX|HNLX|KIAA1260|MGC22376|NLGN|NLGN4 protein-coding 1351370 NLGN4Y neuroligin 4, Y-linked Neuroligins, such as NLGN4Y, are cell adhesion molecules present at the postsynaptic side of the synapse and may be essential for the formation of functional synapses (Jamain et al., 2003 [PubMed 12669065]).[supplied by OMIM] 1580863 15489334,12815422,12669065,12477932,10996085,10231032 22829 AC010726,AC010879,AC010979,AC011903,CH471155,AB023168,AF376804,BC032567,BC113525,BC113551,NM_014893,BX537428 NP_055708,EAW91620,EAW91621,EAW91622,EAW91623,EAW91624,EAW91625,BAA76795,AAM46113,AAH32567,AAI13526,AAI13552,CAD97670,Q8N5B6,Q8NFZ3 Hs.439199 GDB:11506338 KIAA0951 protein-coding 1321854 NLK nemo-like kinase 1580863 15082531,17418100,16713569,16344560,15764709,15489334,15308626,14960582,14720327,12901858,12556497,12482967,12477932,12107411,11707333,10863097,10524757,9448268,8889548 51701 AL036279,AL161970,BC064663,BM723604,BQ636970,DA224552,DA573077,U69562,NM_016231,AC061975,AC090287,AC100852,CH471159,DQ316259,AF180819,AF197898,AK024686 AAH64663,Q9UBE8,NP_057315,EAW51060,EAW51061,EAW51062,EAW51063,ABC40748,AAD56013,AAF04857 Hs.208759 DKFZp761G1211|FLJ21033 nemo like kinase protein-coding 731408 NLN neurolysin (metallopeptidase M3 family) Neurolysin (EC 3.4.24.16) is an enzyme involved in the metabolic inactivation of bioactive peptides (Garrido et al., 1999 [PubMed 10235115]).[supplied by OMIM] 1580863 17251185,14702039,12609826,12477932,12168954,10574462,10235115,9735321,9257187,9003076,8869556,7836437,12586639,11016880 57486 NM_020726,AC008958,AC016643,CH471137,AB033052,AJ300837,AK027602,AK096416,AK292803,AL834241,BC001644,BC004985,CR613085 NP_065777,EAW51338,EAW51339,EAW51340,BAA86540,CAC27329,BAB55224,BAF85492,CAD38918,AAH01644,AAH04985,Q8NDD9,Q96K48,Q9BQD0,Q9BYT8 Hs.247460 GDB:11502419 AGTBP|DKFZp564F123|KIAA1226 protein-coding 1604826 NLP ninein-like 17403670,16254247,15489334,14702039,12852856,12477932,11780052,10231032,16189514 22981 NM_025176,AL031672,AL161802,CH471133,AB023197,AI024623,AK021854,AK093569,BC036380 NP_079452,CAC35004,EAX10082,EAX10083,EAX10084,EAX10085,EAX10086,BAA76824,BAB13914,AAH36380,Q9BQX2,Q9HAD5,Q9Y2I6 Hs.696157 GDB:9957827 FLJ11792|KIAA0980|dJ691N24.1 protein-coding 1604212 NLRC3 NLR family, CARD domain containing 3 15705585,12766759 197358 NM_178844,AC004494,AC006111,CH471112,AF501291,AF501292,AK074109,AK090431,AK090476,AY601811,BC027864,BK001112 NP_849172,EAW85348,EAW85349,EAW85350,EAW85351,AAM22459,AAM22460,BAB84935,BAC03412,BAC03457,AAT48367,DAA01245,Q7RTR2,Q8NF06 Hs.592091 CLR16.2|FLJ00348|NOD3 protein-coding 1320383 NLRC4 NLR family, CARD domain containing 4 In C. elegans, Ced4 binds and activates Ced3, an apoptotic initiator caspase, via caspase-associated recruitment domains (CARDs). Human Ced4 homologs include APAF1 (MIM 602233), NOD1/CARD4 (MIM 605980), and NOD2/CARD15 (MIM 605956). These proteins have at least 1 N-terminal CARD domain followed by a centrally located nucleotide-binding domain (NBD or NACHT) and a C-terminal regulatory domain, found only in mammals, that contains either WD40 repeats or leucine-rich repeats (LRRs). CARD12 is a member of the Ced4 family and can induce apoptosis.[supplied by OMIM] 1580863 15882992,11472070,15107016,15030775,11374873,17620097,16817903,15580302,15528373,15489334,14702039,12975309,12545166,12477932,11390368,16189514 58484 NM_021209,AL121653,CH471053,AF376061,AK095467,AK292673,AL389934,AY027787,AY027788,AY027789,AY027790,AY032589,AY035391,AY358152,BC031555 NP_067032,EAX00451,EAX00452,EAX00453,EAX00454,EAX00455,AAK53443,BAF85362,CAB97523,AAK14776,AAK14777,AAK14778,AAK14779,AAK38730,AAK59843,AAQ88519,AAH31555,Q9NPP4 Hs.574741 GDB:11510539 CARD12|CLAN|CLAN1|CLANA|CLANB|CLANC|CLAND|CLR2.1|IPAF protein-coding 1604572 NLRC5 NLR family, CARD domain containing 5 14702039,12615073,12477932 84166 NM_032206,AC009090,AC023825,CH471092,AF389420,AK025212,AK025362,AK027414,AK027416,AK074133,AK074182,AK090439,AK097030,AL704292,BC040278,BC050527,BC063566,BX640842,CR609707,CR624150,EF452236 NP_115582,EAW82898,EAW82899,EAW82900,EAW82901,EAW82902,AAO59377,BAB15120,BAB55096,BAB55098,BAB84959,BAB85008,BAC03420,AAH50527,CAE45914,ABO40479,Q6MZW3,Q86WI3,Q9H6Y0,AAI56513,AAH63566 Hs.528836 CLR16.1|FLJ21709|FLJ39711|NOD27|NOD4 protein-coding 1322162 NLRP1 NLR family, pyrin domain containing 1 This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. 15212762,11076957,18348116,18263805,17637824,17620097,17418785,17377159,17164409,14702039,14691733,14527388,12563287,12477932,12191486,11592035,11472070,11270363,11250163,11113115,10231032,9110174,8781126,8619474,15749123,15107016 22861 NM_001033053,NM_033007,NM_033006,NM_014922,NM_033004,AC055839,CH471108,CQ971704,AB023143,AF131825,AF217966,AF229059,AF229060,AF229061,AF229062,AF298548,AF310105,AI819334,AK026393,AK026398,AK057464,AL117470,BC016965,BC028066,BC051787,BP391071 NP_001028225,NP_127500,NP_127499,NP_055737,NP_127497,EAW90321,EAW90322,EAW90323,EAW90324,EAW90325,EAW90326,EAW90327,CAI40574,BAA76770,AAG17209,AAK00748,AAK00749,AAK00750,AAK00751,AAG15254,AAG30288,BAB15469,BAB15470,CAB55945,AAH16965,AAH51787,Q86UB5,Q96AM0,Q9C000,Q9H5Z7,Q9H5Z8,Q9HBT3 Hs.104305,Hs.652273 GDB:11507881 CARD7|CLR17.1|DEFCAP|DEFCAP-L/S|DKFZp586O1822|KIAA0926|NAC|NALP1|PP1044|SLEV1|VAMAS1 nacht, leucine rich repeat and pyd containing 1 protein-coding 1316559 NLRP10 NLR family, pyrin domain containing 10 Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. 1580863 15817483,15489334,15096476,12766759,12563287,12477932 338322 AY154465,AY489192,BC104957,BK001110,CR622836,NM_176821,AC044810,CH471064 AAO18161,AAS67384,AAI04958,DAA01243,Q86W26,NP_789791,EAW68640 Hs.449636 CLR11.1|NALP10|NOD8|PAN5|PYNOD nacht, leucine rich repeat and pyd containing 10 protein-coding 1349443 NLRP11 NLR family, pyrin domain containing 11 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 15489334,14702039,12615073,12563287,12477932,12387869,12019269 204801 BC036506,NM_145007,AC008749,AC012310,CH471135,AK090621,AK129784,AY095145,AY154466,AY168967,AY168968,AY226382,BC034730 P59045,Q2TV85,Q2TV86,NP_659444,EAW72415,EAW72416,BAC03490,AAM14632,AAO18162,AAO12532,AAO12533,AAO59428,AAH34730 Hs.375039 CLR19.6|FLJ26273|NALP11|NOD17|PAN10|PYPAF6|PYPAF7 nacht, leucine rich repeat and pyd containing 11 protein-coding 1319748 NLRP12 NLR family, pyrin domain containing 12 This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Alternatively spliced transcript variants encoding distinct isoforms have been described but the full-length nature of some of these has not been determined. 1580863 12019269,16203735,18263805,18230725,18160710,17947705,17620097,17237370,15489334,14702039,12759408,12563287,12477932,11167794 91662 NM_144687,NM_033297,AC008753,CH471135,AF231021,AK095460,AK290772,AY095146,AY116204,AY116205,AY116206,AY116207,AY154467,BC028069 NP_653288,NP_150639,EAW72151,EAW72152,EAW72153,EAW72154,EAW72155,EAW72156,EAW72157,AAK14942,BAF83461,AAM18227,AAM75142,AAM75143,AAM75144,AAM75145,AAO18163,AAH28069,P59046,ABM82010,ABM85192 Hs.631573 CLR19.3|FCAS2|NALP12|PAN6|PYPAF7|RNO|RNO2 nacht, leucine rich repeat and pyd containing 12 protein-coding 1353277 NLRP13 NLR family, pyrin domain containing 13 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP13, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 12766759,12563287 126204 NM_176810,AC011470,AC012310,CH471135,AY154468,BK001108 AAI46296,AAI48743,NP_789780,EAW72419,EAW72420,AAO18164,DAA01241,Q86W25 Hs.446924 CLR19.7|NALP13|NOD14|PAN13 nacht, leucine rich repeat and pyd containing 13 protein-coding 1315283 NLRP14 NLR family, pyrin domain containing 14 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. 1580863 16931801,16344560,12766759,12563287 338323 NM_176822,AC100875,CH471064,AY154469,BK001107,DB226777 NP_789792,EAW68666,EAW68667,EAW68668,AAO18165,DAA01240,Q86W24,AAI56269 Hs.449637 CLR11.2|GC-LRR|NALP14|NOD5|PAN8 protein-coding 1344725 NLRP2 NLR family, pyrin domain containing 2 NALP proteins, such as NALP2, are characterized by an N-terminal pyrin (MIM 608107) domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors (see TLR4; MIM 603030). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 15030775,18056399,17431132,16752129,15817483,15489334,15456791,14702039,12563287,12477932,12387869,12019269,11270363,11250163,9373149,8125298 55655 NM_017852,AC011476,CH471135,AB209300,AF269288,AF298547,AF310106,AF464764,AK000517,AK000784,AK025952,AK223253,AK223269,AK292681,BC001039,BC003592,BC039269 NP_060322,EAW72317,EAW72318,EAW72319,EAW72320,BAD92537,AAG23171,AAG15253,AAG30289,AAL69962,BAA91223,BAA91377,BAB15293,BAD96973,BAD96989,BAF85370,AAH01039,AAH03592,AAH39269,Q8WY49,Q9NX02,ABM85995,ABW03764 Hs.369279 CLR19.9|FLJ20510|NALP2|NBS1|PAN1|PYPAF2 nacht, leucine rich repeat and pyd containing 2 protein-coding 1605822 NLRP2P NLR family, pyrin domain containing 2 pseudogene 12766759 286430 NG_002752,AL807813,BK001116 NALP2P|NOD24 pseudo 1318014 NLRP3 NLR family, pyrin domain containing 3 This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. 1600862,1580863 15967716,15030775,12032915,12093792,14662828,11786556,18311798,18263599,18189199,18175851,18174231,18084703,18063752,18005730,17907925,17763411,17697637,17620097,17599094,17592301,17393462,17284928,17213252,17178985,17164409,17164343,17046979,16868559,16710414,16642435,16344560,16234278,16037825,15593220,15334500,15071491,15020601,14630794,12673085,12615073,12563287,12522564,12483741,12477932,12355493,11992256,11967258,11687797,11042152,10741953,9653160,15107016 1600862 114548 NM_004895,NM_183395,NM_001127461,NM_001127462,NG_007509,AB120959,AB120960,AB120961,AB120962,AC104335,AL606804,AY051112,NM_001079821,AY051117,CH471148,AB208891,AF054176,AF410477,AF418985,AF420469,AF427617,AF468522,AK027194,AK314998,AL601856,AY092033,AY422168,BC117211,CR609473,DA244290 NP_001073289,NP_004886,NP_899632,NP_001120933,NP_001120934,BAD51451,BAD51452,BAD51453,BAD51454,CAI17153,CAI17154,CAI17155,AAL12497,AAL12498,EAW77183,EAW77184,EAW77185,EAW77186,EAW77187,BAD92128,AAC39910,AAL33908,AAL14640,AAL65136,AAL33911,AAL78632,BAG37494,AAM14669,AAQ98889,AAI17212,Q65Z67,Q96P20 Hs.159483 GDB:9957338 AGTAVPRL|AII|AII/AVP|AVP|C1orf7|CIAS1|CLR1.1|FCAS|FCU|FLJ95925|MWS|NALP3|PYPAF1 cold autoinflammatory syndrome 1 protein-coding 1606100 NLRP3P NLR family, pyrin domain containing 3 pseudogene 12766759 347402 NG_002753,AL034399,BK001115 NOD13 pseudo 1323147 NLRP4 NLR family, pyrin domain containing 4 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP4, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 15489334,15107016,14702039,12563287,12477932,12387869,12093792,12019269 147945 NM_134444,AC012310,CH471135,AF442488,AF479747,AF482706,AK056688,AY072792,BC012789,BC016443,BC021272,BC050326 NP_604393,EAW72417,EAW72418,AAL35293,AAL87104,AAL88672,BAB71254,AAL68396,AAH16443,AAH50326,Q96MN2 Hs.631533 CLR19.5|FLJ32126|NALP4|PAN2|PYPAF4|RNH2 protein-coding 1348361 NLRP5 NLR family, pyrin domain containing 5 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. 1580863 18322283,12563287,11925379 126206 NM_153447,AC011470,AC024580,AY054986,AY154460 NP_703148,AAL15549,AAO18156,P59047,AAI41432 Hs.356872 CLR19.8|MATER|NALP5|PAN11|PYPAF8 protein-coding 1350327 NLRP6 NLR family, pyrin domain containing 6 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP6, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 1580863 12633874,12563287,12387869,12019269 171389 NM_138329,AC136475,CH471278,AF479748,AK292668,AY154461 NP_612202,EAW61233,AAL87105,BAF85357,AAO18157,P59044 Hs.352611 CLR11.4|NALP6|PAN3|PYPAF5 protein-coding 1604725 NLRP7 NLR family, pyrin domain containing 7 This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. 17579354,16874523,16501554,16462743,15817483,15596043,15057824,12766759,12563287,12477932,12387869,12019269,10072436 199713 NM_206828,NM_139176,NM_001127255,AC011476,CH471135,AF464765,AK313964,AY154462,BC109124,BC109125,BK001113,BX363944,CR594199,CR607466,DC425389 NP_996611,NP_631915,NP_001120727,EAW72313,EAW72314,EAW72315,EAW72316,AAL69963,AAO18158,AAI09125,AAI09126,DAA01246,Q32MH8,Q32MH9,Q8WX94 Hs.351118 CLR19.4|FLJ94610|HYDM|MGC126470|MGC126471|NALP7|NOD12|PAN7|PYPAF3 protein-coding 1347943 NLRP8 NLR family, pyrin domain containing 8 NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP8, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 [PubMed 12563287]).[supplied by OMIM] 12766759,12563287 126205 AC011470,AY154463,BK001109,NM_176811 NP_789781,AAO18159,DAA01242,Q86W28,AAI48609,AAI53175 Hs.446925 CLR19.2|NALP8|NOD16|PAN4 nacht, leucine rich repeat and pyd containing 8 protein-coding 1319070 NLRP9 NLR family, pyrin domain containing 9 The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. 1580863 12766759,12563287 338321 NM_176820,AC008749,CH471135,AY154464,BC136583,BK001114 NP_789790,EAW72411,EAW72412,AAO18160,AAI36584,DAA01247,Q7RTR0 Hs.661568 CLR19.1|NALP9|NOD6|PAN12 protein-coding 1604698 NLRP9P NLR family, pyrin domain containing 9 pseudogene 12766759 347933 NG_002754,AC069262,BK001117 NOD25 pseudo 1606225 NLRX1 NLR family member X1 This gene encodes a member of the NLR family. Alternative splicing has been observed at this gene locus and two transcript variants, encoding distinct isoforms, have been identified. 18219313,18200010,14702039,12766759,12477932,9373149,8125298 79671 NM_170722,AP002956,CH471065,AB094095,AK025131,AK056454,AK095247,AK225223,AK291716,AL049456,AY245437,BC013199,BC023974,BC110890,BK001111,BX647705,EF452237,NM_024618 NP_078894,NP_733840,EAW67467,EAW67468,EAW67469,BAC76049,BAB15075,BAF84405,CAH56420,AAP31240,AAH13199,AAI10891,DAA01244,ABO40480,Q659G8,Q86UT6 Hs.524082 CLR11.3|DLNB26|FLJ21478|MGC131937|MGC21025|NOD26|NOD5|NOD9 protein-coding 1347751 NM neutrophil migration 4827 GDB:119454 1315040 NMB neuromedin B 1580863,1642059,1642062 8253343,7851890,4041812,1720612,1717141,1488105,2458345,18271693,17766645,17299381,15585758,15528253,15489334,15158442,12477932,11194934,10544247,8392057 1642059,1642062 4828 NM_021077,NM_205858,AC048382,CH471101,AL110112,BC007407,BC007431,BC008603,BI858080,BI962836,M21551 NP_066563,NP_995580,EAX01950,EAX01951,AAH07407,AAH07431,AAH08603,AAA59934,P08949 Hs.386470 GDB:120237 MGC17211|MGC2277|MGC3936 protein-coding 731785 NMBR neuromedin B receptor Neuromedin B receptor binds neuromedin B, a potent mitogen and growth factor for normal and neoplastic lung and for gastrointestinal epithelial tissue. 1580863 10544247,7838118,8391296,15528253,12477932,9632639,8822519,8392057,8253343,7723750,1655761 4829 AAB27330 NM_002511,AL589674,CH471051,BC095542,M73482 NP_002502,CAH70473,EAW47886,AAH95542,AAA59939,AAB27330,P28336,Q4VBL0,Q5VUK8 Hs.654478 GDB:128063 protein-coding 1348373 NMD3 NMD3 homolog (S. cerevisiae) Ribosomes are composed of 60S and 40S subunits that are assembled in the nucleolus and exported to the cytoplasm through nuclear pore complexes in the nuclear envelope. NMD3 is an adaptor for 60S subunit export via the CRM1 (XPO1; MIM 602559) pathway (Trotta et al., 2003 [PubMed 12773398]).[supplied by OMIM] 8125298,15635413,14702039,12773398,12724356,12477932,10810093,9373149 51068 NM_015938,AC108738,CH471052,AF132941,AK021775,AK024706,AK094749,AK225664,BC013317 NP_057022,EAW78618,EAW78619,AAD27716,AAH13317,Q96D46 Hs.656143 CGI-07|FLJ21053 protein-coding 1353012 NMD3P nonsense-mediated mRNA 3 homolog (S. cerevisiae) pseudogene 497046 735393 NME1 non-metastatic cells 1, protein (NM23A) expressed in This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. 1580863,1600229 8245015,8047138,7916650,2509941,2056128,2015608,11231635,8392752,8270257,16277028,16232196,16189514,15882758,15870434,15833843,15777972,15757202,15684389,15650182,15645378,15592684,15568401,15512982,15489334,15334673,15280446,15129904,15073128,15040016,14960567,14664140,14499630,12910292,12883690,12859952,12684753,12669312,12628186,12624546,12601555,12972261,11555662,17975005,1851158,16862176,16130169,18239814,18154714,18089805,17918157,17885583,17695492,17688968,17655525,17591363,17359290,17314099,17197349,17155928,17103045,17008916,16957985,16891807,16847342,16739125,16631833,16531762,16466905,16415009,16317582,16313181,12524539,12490715,12477932,12474051,12452062,12405283,12200143,12174914,12163590,12137595,12135660,12105213,12007505,11998956,11963831,11960382,11935309,11919189,11918081,11835509,11776896,11726210,11687967,11319942,11280768,11274357,11042679,10618642,10611312,10602478,10512675,9593706,9513729,9488696,9480811,8858107,8810265,8395939 1600229 4830 NM_198175,NM_000269,AC005839,CH471109,X75598,AF487339,AK291105,AL360166,AL360191,BC000293,BC018994,BE727815,BF965472,BG531372,BG715560,BG757842,BI666785,BM479520,BU600979,CR542104,CR542115,CR621859,CR626177,X17620,X73066 NP_937818,NP_000260,EAW94568,CAA53270,AAO85436,BAF83794,AAH00293,AAH18994,CAG46901,CAG46912,CAA35621,CAA51527,P15531,Q6FGK3,Q86XQ2 Hs.463456 GDB:127965 AWD|GAAD|NDPK-A|NDPKA|NM23|NM23-H1 expressed in non-metastatic cells 1 protein-coding 1642401 NME1-NME2 NME1-NME2 The NME1-NME2 mRNA is a naturally occurring co-transcribed product of the neighboring NME1 and NME2 genes. The significance of this co-transcribed mRNA and the function of its predicted protein product have not yet been determined. Alternative splicing of this gene results in different transcript variants encoding distinct isoforms, but the full-length nature of each variant has not been defined. 16442775,12477932 654364 BC133031,BG388883,BI603164,CR608209,CR610816,CR620825,DQ109675,NM_001018136,AC005839,BC107894,BC133029 AAI33032,AAZ82097,Q1WM23,NP_001018146,AAI07895,AAI33030 Hs.463456 NME2 protein-coding 1346564 NME2 non-metastatic cells 2, protein (NM23B) expressed in Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by NME1) and 'B' (encoded by this gene) isoforms. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. Co-transcription of this gene and the neighboring upstream gene (NME1) generates naturally-occurring transcripts (NME1-NME2) which encode a fusion protein comprised of sequence sharing identity with each individual gene product. 1580863 12007505,11960382,11872741,11082283,11042679,9925751,9480811,8858107,8747457,8645210,8529641,8406509,8381224,8245015,7768941,7685630,7658474,2509941,1988104,1851158,17353931,8392752,11919189,16862176,17964137,17532299,17272673,15952740,15489334,15249197,14976202,14499630,12486123,12486122,12477932,12200143,12009894 4831 NM_001018137,NM_002512,NM_001018139,NM_001018138,AC005839,CH471109,BC002476,BC095458,BE501156,BF034471,BF058708,BM556410,BT007045,CK023920,CR541718,CR620528,L16785,M36981,X58965 NP_001018147,NP_002503,NP_001018149,NP_001018148,EAW94564,EAW94567,AAH02476,AAH95458,AAP35694,CAG46519,AAA60228,AAA36369,CAB37870,P22392,Q32Q12,Q6FHN3 Hs.463456 GDB:128020 MGC111212|NDPK-B|NDPKB|NM23-H2|NM23B|puf protein-coding 1354297 NME2P1 non-metastatic cells 2, protein (NM23B) expressed in, pseudogene 1 1580863 8270257,7488060 283458 U85976,NR_001577,AC004263,U29200 AAA86745,Q6LCT6,AAC05177 pseudo 733554 NME3 non-metastatic cells 3, protein expressed in 1580863,1300048 11277919,7638209,17900511,16713569,16537434,16189514,15489334,12477932,11157797,11042679,9067290 4832 NM_002513,AC012180,AE006639,AL031718,CH471112,BC000250,BG911570,CR605551,U29656 NP_002504,AAK61291,CAB72319,EAW85629,AAH00250,AAA85097,Q13232,Q9NUF9,ABM83441,ABW03498 Hs.514065 GDB:5215169 DR-nm23|KIAA0516|NDPK-C|NDPKC|NM23-H3|c371H6.2 protein-coding 1318408 NME4 non-metastatic cells 4, protein expressed in The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM] 1580863 9099850,16189514,15616553,15489334,14702039,12477932,11831846,11157797,10799505 4833 AE006463,CH471112,Z97634,AF086133,AK094439,BC004880,BC017067,BT019438,CR592051,CR595773,CR597313,CR613066,CR621504,Y07604,NM_005009 NP_005000,AAK61230,EAW85817,EAW85818,EAW85819,EAW85820,CAC37288,CAI95599,CAM26405,CAM26406,CAM26407,AAH04880,AAH17067,AAV38245,CAA68877,O00746,Q4TT34,Q5U0M9 Hs.9235 GDB:5215179 NDPK-D|NM23H4|nm23-H4 protein-coding 1343010 NME5 non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase) 1580863 9742940,16189514,15489334,14499630,12477932,8889548 8382 BC026182,BM979998,BX490554,U90450,Y14992,NM_003551,AC113382,CH471062,AF067724 AAC64358,AAH26182,AAC69440,CAA75226,P56597,NP_003542,EAW62163,EAW62164 Hs.519602 GDB:9835130 NM23-H5|NM23H5 protein-coding 1604057 NME6 non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase) The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the NM23 gene family (see MIM 156490).[supplied by OMIM] 15489334,12477932,10618642,10453732,9373149,8125298 10201 NM_005793,AC105267,CH471055,AF051941,AK222555,BC001808,BC012828,U90449 NP_005784,EAW64861,AAC78463,BAD96275,AAH01808,AAH12828,AAC69439,O75414,Q53HM5,ABM83209,ABM86409 Hs.465558 IPIA-ALPHA|NM23-H6 protein-coding 733959 NME7 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) 1580863 17363702,16710414,16189514,15489334,14702039,12477932,11768308 29922 NM_197972,AL031726,AL356852,CH471067,Z99758,AB209049,AF153191,AK094513,AK290701,BC006983,CD107958,NM_013330,CR599535,CR605539 NP_037462,NP_932076,CAI18887,CAI19238,EAW90834,EAW90835,EAW90836,BAD92286,AAD34622,BAF83390,AAH06983,Q59GR0,Q9Y5B8 Hs.706952 FLJ37194|nm23-H7 protein-coding 1323327 NMI N-myc (and STAT) interactor NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. 1580863 10597290,10779520,9989503,17565738,17197158,16214168,16189514,15996661,15815621,14702039,12477932,12019454,11916966,11911807,10950963,10574616,9781816,8668343,15489334,15231747 9111 NM_004688,AC009311,CH471058,AK124323,AK291548,BC001268,BC021987,CR604696,EF036506,U32849 NP_004679,AAY15066,EAX11513,BAF84237,AAH01268,AAH21987,ABO65092,AAC12949,Q13287,Q8WTW2 Hs.54483 GDB:9955066 protein-coding 1322215 NMNAT1 nicotinamide nucleotide adenylyltransferase 1 The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein ADP-ribosylation, histone deacetylation, and in some Ca(2+) signaling pathways. NMNAT (EC 2.7.7.1) is a central enzyme in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide (NaMN) with the AMP moiety of ATP to form NAD or NaAD (Zhang et al., 2003 [PubMed 12574164]).[supplied by OMIM] 1580863 14516279,12574164,12477932,12359228,11959140,11891043,11788603,11752792,11751893,9373149,8125298,16189514,14702039,11027696,11248244,17402747,17360427,17081983,16118205,15489334,15342556 64802 NM_022787,AF459823,AL357140,AL603962,CH471130,CS300603,AF088049,AF312734,AF314163,AF459819,AK026065,AK222920,BC014943,BG751629,BP339298 NP_073624,AAL76935,CAI16889,CAI16813,EAW71635,EAW71636,CAK32267,AAG33629,AAG33632,AAL76934,BAB15345,BAD96640,AAH14943,Q53GL1,Q5SWJ2,Q9HAN9 Hs.633762 NMNAT|PNAT-1|PNAT1 protein-coding 1316464 NMNAT2 nicotinamide nucleotide adenylyltransferase 2 This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. 1580863 17402747,16710414,16118205,15489334,14516279,12477932,12359228,11318611,9455484 23057 NM_015039,NM_170706,AL354953,AL356981,AL449223,CH471067,AB007948,AF086038,AF288395,AK291390,BC016726,BC020998,BC037251 NP_055854,NP_733820,CAH70979,CAH70982,EAW91148,EAW91149,EAW91150,EAW91151,BAA32324,AAG60615,BAF84079,AAH20998,Q9BZQ4 Hs.497123 C1orf15|KIAA0479|MGC2756|PNAT-2|PNAT2 protein-coding 1319314 NMNAT3 nicotinamide nucleotide adenylyltransferase 3 The coenzyme NAD and its derivatives are involved in hundreds of metabolic redox reactions and are utilized in protein ADP-ribosylation, histone deacetylation, and in some Ca(2+) signaling pathways. NMNAT (EC 2.7.7.1) is a central enzyme in NAD biosynthesis, catalyzing the condensation of nicotinamide mononucleotide (NMN) or nicotinic acid mononucleotide (NaMN) with the AMP moiety of ATP to form NAD or NaAD (Zhang et al., 2003 [PubMed 12574164]).[supplied by OMIM] 1580863 17402747,16118205,15489334,12574164,12477932,11788603,16189514 349565 NM_178177,AC046134,AC110716,CH471052,AF345564,AK123208,AK127477,BC034374,BC036218,BX649063 EAW79031,EAW79032,EAW79033,NP_835471,EAW79022,EAW79023,EAW79024,EAW79025,EAW79026,EAW79027,EAW79028,EAW79029,EAW79030,AAK52726,AAH34374,AAH36218,Q49AL4,Q96T66,ABM81730,ABM84885 Hs.208673 PNAT-3|PNAT3 protein-coding 1349817 NMNATP nicotinamide nucleotide adenylyltransferase pseudogene 326607 NG_002596,AC007262 pseudo 1603207 NMRAL1 NmrA-like family domain containing 1 17496144,17100653,15616553,15489334,12477932 57407 NM_020677,AC007606,AC012676,CH471112,AF225419,AK098784,BC002927,BC007364,CR606906,CR608452,CR622057 NP_065728,EAW85301,EAW85302,AAG09721,AAH02927,AAH07364,Q9HBL8 Hs.288969 FLJ25918|HSCARG protein-coding 1604755 NMS neuromedin S 17870195,15635449 129521 NM_001011717,AC068538,AB164464 NP_001011717,BAD89024,Q5H8A3,AAI48627,AAI53191 Hs.567676 protein-coding 1352076 NMT1 N-myristoyltransferase 1 1580863 15302935,15156568,12767222,12477932,12414990,12244217,12220649,11594778,11423543,11302743,10734119,10718634,10625670,10196310,10074105,9971769,9677304,9353336,9299393,9261380,9110174,8970978,8619474,8576268,8360179,8139035,7527558,7521919,9506952,11099414,18248763,18089753,18021392,17549352,17081983,16964243,16123142,15489334,7512951,3917576,2788277,2737204,2692561,2405382,2194551,2153964,1570339,1530946,16306631,16216583,16183191,15280532,14707265,14699046,15613341,16475823,11463741,10339411 4836 NM_021079,AC002117,AC116493,CH471178,AF020500,AF043324,AK291936,BC006538,BC006569,BC007258,BC008312,BC008579,BC109226,CR604827,CR607720,CR615980,CR616397,CR626529,M86707,U79285,Y17208,Y17209 NP_066565,EAW51553,EAW51554,EAW51555,EAW51556,EAW51557,AAB95316,AAC09294,BAF84625,AAH06538,AAH06569,AAH07258,AAH08312,AAH08579,AAI09227,CAA76684,CAA76685,CAA76686,P30419,Q96HI4,Q9Y465 Hs.532790 GDB:132650 NMT protein-coding 1349505 NMT2 N-myristoyltransferase 2 N-myristoyltransferase (NMT) catalyzes the reaction of N-terminal myristoylation of many signaling proteins. It transfers myristic acid from myristoyl coenzyme A to the amino group of a protein's N-terminal glycine residue. Biochemical evidence indicates the presence of several distinct NMTs, varying in apparent molecular weight and /or subcellular distribution. The predicted 498-amino acid of human NMT2 protein shares 77% and 96% sequence identity with human NMT1 and mouse Nmt2 comprise two distinct families of N-myristoyltransferases. 1580863 9506952,18089753,17568424,16530191,16364039,16123142,15489334,15164054,14702039,12767222,12477932,12244217,11731439,11302743,10196310,10074105,9971769,9299393,9261380,8970978,8576268,8139035,7521919,2788277,2737204,2692561,2405382,2194551,16306631,16216583,16183191,15280532,14707265,14699046 9397 NM_004808,AL590365,CH471072,AF043325,AF086423,AK094904,AK123732,BC005232,BC006376,BT007024,CR608984 NP_004799,CAH73971,CAH73972,CAH73973,EAW86238,EAW86239,AAC09295,AAH05232,AAH06376,AAP35670,O60551,Q9BS83,ABM81593,ABM84774 Hs.60339 GDB:9956204 protein-coding 68564 NMU neuromedin U 1580863,1642093,1642094,632965,1642095 10811630,7619205,17018595,16984985,16878152,15489334,15331768,15187020,14623274,12477932,12023529,10999960,10899166,10894543,10887190,10783389,15635449 1642093,1642094,632965,1642095 10874 AC024243,CH471057,AJ510133,AJ510134,NM_006681,AJ510135,AM279463,BC012908,X76029 NP_006672,EAX05470,EAX05471,CAD52852,CAD52853,CAK50583,AAH12908,CAD52854,CAA53619,P48645,Q1EHW1,Q86WB4,Q86WB5,Q86WB6,ABM82221,ABM85405 Hs.418367 GDB:9958434 neuromedin protein-coding 1348049 NMUR1 neuromedin U receptor 1 10899166,9782091,15815621,15635449,15489334,15342556,12477932,10811630,10783389 10316 NM_006056,AC017104,AF044600,AF044601,CH471063,AF272362,BC036543,BC051914,BP198644 NP_006047,AAY24249,AAC02680,EAW70966,AAG24793,AAH36543,AAH51914,Q9HB89 Hs.471619 (FM-3)|FM-3|FM3|GPC-R|GPR66|NMU1R protein-coding 1343070 NMUR2 neuromedin U receptor 2 This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. 632965 10899166,10887190,10894543,16781063,15525579,15489334,12477932,11010960,8940772,15635449 632965 56923 NM_020167,AC008571,CH471062,AB041228,AF242874,AF272363,AF292402,AI023570,BC016938,BC067776 NP_064552,EAW61653,BAB13721,AAF82755,AAG24794,AAG03064,AAH16938,AAH67776,Q9GZQ4,ABM82703,ABM85887 Hs.283093 FM-4|FM4|NMU-R2|NMU2R|TGR-1|TGR1 protein-coding 730841 NNAT neuronatin The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of the BLCAP gene, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele, while BLCAP is not imprinted. Two transcript variants encoding two different isoforms have been found for this gene. 1580863 8813377,17805055,15489334,12477932,11960906,11780052,11543638,11476579,9356927,8660979,12775420 4826 CR593008,NM_005386,NM_181689,AL109614,CH471077,U31767,AB002392,BC001768,BE255132,BT019426,CR597280,CR598063,CR599948,CR601930,CR611594,CR615297,CR620236,CR622140,CR624181,U25033,U25034 NP_005377,NP_859017,CAC00476,CAC00477,EAW76057,EAW76058,EAW76059,EAW76060,EAW76061,AAC50626,AAC50627,BAA25016,AAH01768,AAV38233,AAA93224,AAA93225,Q16517 Hs.504703 GDB:3750266 MGC1439|Peg5 protein-coding 1320034 NNMT nicotinamide N-methyltransferase N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. 1359084,1580863 17434578,17412799,16676400,16166432,15849667,15728403,15489334,15486044,12477932,12216074,11853016,11271497,10471062,9804963,8845860,8575745,1533573,18427977,8182091,18441319 1359084 4837 NM_006169,AP002518,CH471065,U20970,U20971,AA402535,AK026845,BC000234,BI255889,CR541907,CR599407,CR600284,CR612730,U08021 NP_006160,EAW67243,EAW67244,AAA93158,AAH00234,CAG46705,AAA19904,P40261,Q6FH49,ABM83767,ABM87087 Hs.503911 GDB:328754 protein-coding 1345000 NNO1 nanophthalmos 1 9792868 23691 GDB:10450513 1351355 NNT nicotinamide nucleotide transhydrogenase This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. 1580863 10673423,9524818,16381901,16344560,15489336,15489334,12788487,12592411,12477932,12223207,11230166,11181995,11076863,10739929,9271681,8951041,8616157 23530 NM_182977,AC010435,CH471119,AL831822,AW771969,BC032370,BC064402,BC110543,BC110544,BU429380,CR598327,DA521839,U40490,Z50101,NM_012343 NP_036475,NP_892022,EAW56073,EAW56074,CAD38536,AAH32370,AAI10544,AAI10545,AAC51914,CAA90428,Q0JSM3,Q0JVB8,Q13423,Q2TB59,Q8N5H5,CAL37542,CAL38491 Hs.482043 GDB:4536434 MGC126502|MGC126503 protein-coding 1603053 NOB1 NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 15231747,17081983,16172919,15489334,14702039,12588997,12477932,1791827 28987 NM_014062,AC092115,CH471092,AB026125,AF190161,AK001028,AY487344,BC000050,BC064630,CR595115,CR595764,CR598380,CR599606,CR600388,CR603829,CR613231,CR614204,CR619268 NP_054781,EAW83285,EAW83286,BAA86961,AAQ13705,BAA91473,AAR85357,AAH00050,AAH64630,Q9ULX3 Hs.271695 ART-4|MST158|MSTP158|NOB1P|PSMD8BP1 protein-coding 1604996 NOBOX NOBOX oogenesis homeobox NOBOX is a homeobox gene that is preferentially expressed in oocytes. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes (Huntriss et al., 2006 [PubMed 16597639]).[supplied by OMIM] 17701902,16597639,15950662,15326356,12853948,11804785,8855241 135935 NM_001080413,AACC02000041,AC004534 NP_001073882,EAL24414,AAC12957,O60393,AAI52835 Hs.558628 OG-2|OG2|Og2x|POF5|TCAG_12042 protein-coding 1606804 NOC2L nucleolar complex associated 2 homolog (S. cerevisiae) Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM] 17353931,17081983,16713569,16710414,16565220,16381901,16344560,16322561,16189514,16083285,15489336,15489334,14702039,12477932,12429849,11790298,11256614,11230166,11076863,10737800,9373149,8125298 26155 AK225239,AL050019,AW749585,BC003555,BC009786,BX645732,DA002961,NM_015658,AL645608,CH471183,AK022756,AK024284,AK092491 CAB43240,AAH03555,AAH09786,Q0JRZ6,Q8NAK7,Q96QK6,Q9H9J5,Q9Y3T9,CAL38718,NP_056473,CAI15568,EAW56304,EAW56305,EAW56306,BAB14230,BAC03905 Hs.405987 DKFZP564C186|FLJ35172|NIR protein-coding 1316739 NOC3L nucleolar complex associated 3 homolog (S. cerevisiae) 737633 16565220,15564382,15489334,15164054,14702039,12477932,12429849 737633 64318 NM_022451,AL355341,CH471066,AB077992,AK022882,AK026953,AK091246,AK292520,BC030999,BC049850 NP_071896,CAD13194,EAW50041,BAB84194,BAB14291,BAB15599,BAF85209,AAH49850,Q8WTT2 Hs.74899 AD24|C10orf117|FAD24|FLJ12820 chromosome 10 open reading frame 117 protein-coding 1604300 NOC4L nucleolar complex associated 4 homolog (S. cerevisiae) 16189514,15590835,15489334,14702039,12477932,12446671,12429849 79050 NM_024078,AC138466,CH471054,BC001191,BC007893,BC071958 NP_076983,EAW98544,EAW98545,AAH01191,AAH07893,AAH71958,Q9BVI4,ABM83444,ABM86656 Hs.558536 MGC3162|NOC4 protein-coding 1344653 NOD1 nucleotide-binding oligomerization domain containing 1 1580863 15657077,12761501,15653568,18186648,17970764,17964870,17907287,17620097,17613538,17595233,17521327,17452051,17403538,17322292,17309748,17285593,17156193,17100974,17054981,17030188,17012967,17005562,16935475,16918516,16893397,16741608,16493424,16464805,16446438,16260731,16172124,16115863,16083881,15990792,15790594,15718249,15489334,14977954,14702039,12871942,12853948,12813035,12791997,12775719,12690205,12477932,12459189,11113115,11058605,10880512,10224040,15107016,16189514,10329646,15967716 10392 NM_006092,AACC02000087,AC005154,AC006027,AF149774,CH471073,AF113925,AF126484,AK023969,AY128682,AY128683,AY128684,AY128685,AY128686,AY187249,BC020114,BC040339 NP_006083,EAL24453,AAS46897,AAD43922,EAW93944,EAW93945,EAW93946,EAW93947,EAW93948,EAW93949,AAD28350,AAD29125,AAM98064,AAM98065,AAM98066,AAM98067,AAM98068,AAH40339,Q7Z2K1,Q9Y239 Hs.405153 GDB:9956503 CARD4|CLR7.1|NLRC1 protein-coding 1314945 NOD2 nucleotide-binding oligomerization domain containing 2 This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. 1580863,1600778,1600781,1643119 17980027,17978873,17976376,17968944,17964870,17964196,17941079,17911997,17907287,17894849,17892524,17877509,17876878,17852840,17804789,17786191,17763471,17725592,17724347,17719742,17705850,17684544,17666747,17661913,17660460,17652449,17620097,17613538,17600378,17595233,17570063,17565648,17563761,17558906,17558494,17548659,17538984,17509030,17498224,17489054,17486745,17484864,17484863,17476680,17460484,17452051,17451203,17447842,17435756,17417801,17404888,17403538,17393391,17389035,17389014,17379562,17356065,17355968,17351900,17337463,17333217,17319929,17303577,17301648,17285593,17278126,17269998,17258734,17206688,17206636,17206080,17200669,17174426,17171451,17160430,17157607,17156193,17156146,17142621,17131470,17119385,17113749,17101573,17100976,17100974,17096091,17057186,17030188,17020469,17018387,17012967,17009307,17006998,17005562,16977346,16965521,16952484,16949315,16933467,16920047,16907704,16897777,16840031,16825909,16819374,16804670,16804398,16773683,16771961,16741608,16716969,16670524,16670523,16669960,16642031,16641610,16614992,16611251,16534418,16522788,16519819,16510569,16494592,16494109,16493449,16493424,16492792,16489646,16485124,16461743,16454837,16446977,16441470,16437728,16437636,16436969,16424393,16416181,16402184,16397396,16393227,16389181,16385250,16344054,16344053,16319062,16315780,16306764,16279904,16278823,16267612,16266221,16257953,16255050,16244543,16239841,16239840,16230083,16203728,16198136,16179784,16174099,16167972,16161956,11087742,15753091,15998797,15075345,16260731,15653568,17690884,11385577,15107016,17919942,15967716,16714539,17337451,18489434,18466472,18438406,18433468,18419343,18384487,18383179,18382655,18371140,18371139,18367950,18317454,18271063,18253730,18248772,18243161,18227809,18219096,18213697,18200510,18200509,18184136,18182678,18166373,18162085,18158963,18157816,18096043,18092345,18092344,18090989,18088053,18069758,18052659,18028374,18022871,18022867,15803022,15800781,15795594,15785318,15778542,15770725,15712650,15685536,15667501,15666202,15655821,15654786,15643611,15638227,16148063,16134731,16134725,16133971,16126943,16115863,16080653,16010583,16009674,16008671,16002353,16000642,15990626,15984988,15973118,15973116,15967635,15930978,15927452,15843082,15842589,15840263,15812565,15807862,15637755,15626888,15626887,15578724,15571588,15571586,15551253,15539413,15539411,15527324,15520108,15516360,15515785,15492242,15489579,15479689,15472511,15468360,15459013,15377357,15367194,15320482,15308523,15289769,15279649,15214053,15202784,15194649,15190267,15180737,15145460,15142196,15140210,15107849,15095853,15090455,15056084,15052696,15046222,15046221,15044951,15024686,15016407,15008984,15002819,14996717,14971813,14750643,14747834,14743885,14690304,14644139,14638352,14627676,14597055,14555911,14522785,14516815,14508222,13680285,12940436,12930309,12923865,12879366,12876263,12871942,12851870,12823148,12810925,12704363,12673278,12671897,12671896,12650796,12649405,12631669,12631668,12631666,12626759,12618963,12617879,12595906,12595627,12577202,12563685,12556233,12532667,12529700,12527755,12514169,12512064,12512038,12508397,12492195,12474146,12459523,15168811,12454871,12415614,12397216,12360101,12210321,12202985,12198692,12115249,12115195,12105838,12105836,12020527,12019468,12019209,11976792,11938034,11910337,11910336,11890351,11875755,11837220,11834373,11752413,11528384,11472070,11425413,11385576,11318544,10439963,10053016,9924607,9797359,9541106,8894707,8587604,7809109 1600778,1600781,1643119 64127 NG_007508,AC007608,AC007728,AF385085,AF385087,AF385088,AF385089,AF385090,AJ303140,AX259774,AX259776,CH471092,AF178930,AY187233,AY187234,NM_022162,AY187235,AY187236,AY187237,AY187238,AY187239,AY187240,AY187241,AY187242,AY187243,AY187244,AY187245,AY187246,AY423901,DQ868973 NP_071445,AAK70863,AAK70865,AAK70866,AAK70867,AAK70868,CAC42117,CAD10212,CAD10248,EAW82767,AAG33677,AAQ93806,ABJ16061,Q6TDC3,Q7Z595,Q7Z596,Q7Z597,Q9HC29,AAI52738,AAI56572 Hs.592072 GDB:11026232 ACUG|BLAU|CARD15|CD|CLR16.3|IBD1|NLRC2|NOD2B|PSORAS1 caspase recruitment domain family, member 15 protein-coding 1314354 NODAL nodal homolog (mouse) The protein encoded by this gene is a member of the TGF-beta superfamily. Studies of the mouse counterpart suggested that this gene may be essential for mesoderm formation and subsequent organization of axial structures in early embryonic development. 1580863 18234825,18089557,18022151,17925387,17373879,16179608,15982639,15501227,15489334,15475956,15308665,15257293,15150278,12606401,12477932,12052855,9354794,8429908 4838 NM_018055,AB067632,AC022532,CH471083,BC033585,BC039861,BC104976,BC112025 NP_060525,BAB62524,EAW54403,AAH33585,AAI04977,AAI12026,Q96S42,Q9NW52 Hs.370414 GDB:9848762 MGC138230 protein-coding 735776 NOG noggin The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. 729002,1600234,1580863 12478285,15621726,7666191,17029022,10080184,18204269,18019378,17889703,17696196,17668388,17218603,17200191,17138967,16532400,16126463,15756420,15489334,15264296,14999064,12621334,12477932,12404109,12115893,12089654,11857750,11846737,11706034,11580864,11562478,11545688,10657699,10087923,9634519,9603738,9585504,7557985 729002,1600234 9241 NM_005450,AC015724,CH471109,U31202,BC034027 NP_005441,EAW94528,AAA83259,AAH34027,Q13253 Hs.248201 GDB:9958931 SYM1|SYNS1 protein-coding 1312158 NOL1 nucleolar protein 1, 120kDa 1580863 12477932,12080348,1394192,17081983,16964243,16565220,16344560,15302935,14702039,12429849,12370829,9654073,9115287,8089149,8088812,3422591,2576976,2372471,2199030 4839 NM_001033714,NM_006170,AC006064,CH471116,AK056208,AK129852,AU131299,BC000656,BC065257,BC082985,BC106072,BC128183,BC128184,CR595178,M32110,X55504 AAH82985,NP_001028886,NP_006161,EAW88780,AAH00656,AAH65257,AAI06073,AAI28184,AAI28185,AAA36398,CAA39119,P46087,Q05BA7,Q3KQS4 Hs.534334 GDB:291215 MGC117384|MGC149287|MGC149288|NOP120|NSUN1|p120 protein-coding 1602460 NOL10 nucleolar protein 10 15815621,15489334,14702039,12477932,12429849,11790298,9847074 79954 NM_024894,AC007314,AC092687,CH471053,AK024000,AK024137,AK290680,BC005125,BC037841,CR612766,CR614196,DC346574 NP_079170,AAK52071,AAY24068,EAX00953,EAX00954,EAX00955,BAB14765,BAB14836,BAF83369,AAH05125,Q9BSC4 Hs.222494 FLJ13938|FLJ14075|PQBP5 protein-coding 1603676 NOL11 nucleolar protein 11 15489334,15334068,14702039,12477932,12429849 25926 NM_015462,AC006534,CH471099,AK023702,AK025390,AL110271,AY598333,BC001726,BC064404,CR590160,CR593930,CR626357 NP_056277,EAW89033,EAW89034,EAW89035,EAW89036,EAW89037,BAB14647,CAB53709,AAT06744,AAH01726,AAH64404,Q9H8H0 Hs.463936 DKFZP586L0724 protein-coding 1601850 NOL12 nucleolar protein 12 17081983,16565220,15489334,15461802,14702039,12529303,12477932,10591208 79159 NM_024313,CH471095,Z83844,AK057139,AK091928,AL160132,BC002808,BE241845,CR456463,CR601334 NP_077289,EAW60179,EAW60180,CAB63039,CAB77148,AAH02808,CAG30349,Q9UGY1 Hs.632778 FLJ34609|MGC3731|Nop25|dJ37E16.7 protein-coding 1313732 NOL14 nucleolar protein 14 NOL14 plays a role in the processing of the pre-18S rRNA and small ribosomal subunit assembly (Liu and Thiele, 2001 [PubMed 11694595]).[supplied by OMIM] 17081983,16565220,15489334,12477932,11694595,9734812,9661704 8602 AL390065,CH471131,AB000467,AF040965,AK024755,AK025692,AK292939,BC009760,BC017358,BC026035,BC053635,CR612484,CR614906,NM_003703 Q96GC8,NP_003694,EAW82489,EAW82490,EAW82491,EAW82492,EAW82493,BAA19121,AAB97011,BAF85628,AAH09760,AAH26035,AAH53635,P78316 Hs.705401 C4orf9|NOP14|RES4-25 chromosome 4 open reading frame 9 protein-coding 1343906 NOL2 nucleolar protein 2, 145kDa 4840 GDB:291216 1352407 NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) 1580863 10196175,16189514,9560245,18245485,17998337,17142452,16505176,15861191,15848180,15509781,15489334,15383280,12734105,12477932,12191471,10644725,17353931 8996 NM_003946,AC074143,AF064598,CH471092,AF043244,AF064599,AF064600,BC012798,BT020158,CR600491,CR611049,CR616906 NP_003937,AAC18590,AAC18591,EAW83087,EAW83088,EAW83089,AAC34993,AAC18593,AAC18594,AAH12798,AAV38960,O60936,Q5TZN6,ABM83975,ABM87296 Hs.513667 GDB:9958054 ARC|MYC|MYP|NOP|NOP30 protein-coding 1321698 NOL4 nucleolar protein 4 1580863 9813152,16730941,16344560,16189514,15489334,14702039,12477932,9853615,8889548 8715 NM_003787,AC010798,AC018972,AC087397,AC104985,CH471088,AB015339,AB017800,AK091463,BC000313,BM973283,BT006763,CR456730,CR608782,DA780731 NP_003778,EAX01310,EAX01311,EAX01312,EAX01313,EAX01314,EAX01315,EAX01316,BAA34797,BAA34576,AAH00313,AAP35409,CAG33011,O94818,Q6IBS2 Hs.514795 GDB:9956724 HRIHFB2255|NOLP protein-coding 1318922 NOL5A nucleolar protein 5A (56kDa with KKE/D repeat) Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them have not been determined. 1580863 9372940,17081983,16565220,15635413,15489334,15188402,14702039,12777385,12477932,12429849,12417735,11790298,11780052,15574333 10528 NM_006392,AL049712,CH471133,AK097186,AK292721,BC004937,BC018421,BC035369,BC104791,BC104793,BG429581,BX647439,BX647513,CR598249,Y12065 NP_006383,CAC01444,CAI22416,CAI22418,EAX10584,EAX10585,EAX10586,EAX10587,EAX10588,EAX10589,BAF85410,AAH04937,AAH18421,AAI04792,AAI04794,CAA72789,O00567,Q5JXT3,Q5JXT4,Q9BSN3 Hs.376064 GDB:9957573 NOP56 protein-coding 1342956 NOL5BP nucleolar protein 5B pseudogene 646192 NG_006572,AL662890,AL844539,AL901607 NOL5B|NOP56-L|dJ207F6.1 pseudo 1317567 NOL6 nucleolar protein family 6 (RNA-associated) The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. 11895476,16565220,15635413,15590835,15489334,15164053,14702039,12477932,12429849,11790298 65083 NM_139235,NM_022917,AL356218,CH471071,AF361079,AF361080,AF361081,AK025612,AK026193,AK026258,AK056559,BC008298,BC008852,BC020450,BC030139,CB267269,CR623873 NP_631981,NP_075068,CAI13312,CAI13313,CAI13314,CAI13315,EAW58494,EAW58495,EAW58496,EAW58497,EAW58498,EAW58499,AAL74403,AAL74404,AAL74405,BAB15189,BAB15389,AAH08298,AAH08852,AAH30139,Q9H6R4 Hs.493709 FLJ21959|MGC14896|MGC14921|MGC20838|NRAP|UTP22|bA311H10.1 protein-coding 1343047 NOL7 nucleolar protein 7, 27kDa 1580863 16205646,15635413,15489334,14702039,14574404,12477932,12429849,11790298 51406 NM_016167,AL441883,CH471087,CQ783443,AF172066,AK075301,AL050299,BC023517,BC062683 NP_057251,CAI19839,CAI19840,EAW55339,EAW55340,CAF86645,AAD49745,BAC11534,CAB43398,AAH23517,AAH62683,Q9H377,Q9UMY1 Hs.306242 C6orf90|MGC71933|PQBP3|RARG-1|dJ223E5.2 protein-coding 1319952 NOL8 nucleolar protein 8 NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM] 737633 11073942,14660641,15132771,17081983,15489334,15164053,14702039,12477932,9373149,8125298 737633 55035 AK022755,AK024245,AK024786,AK225322,BC008491,BC013788,BC035041,BC064942,BC146810,CR606273,CR627363,NM_017948,AL136097,CH471089,AB105104,AB109030,AK000743,AK001049 BAB14229,BAB14857,BAB15003,AAH13788,AAI46811,CAH10464,Q6AI50,Q76FK4,NP_060418,CAC12712,CAI16204,CAI16205,CAI16206,CAI16207,CAI16208,CAI16209,EAW62814,EAW62815,EAW62816,BAD12268,BAC99315,BAA91356,BAA91479 Hs.442199 C9orf34|DKFZp686P12242|FLJ20736|Nop132|bA62C3.3|bA62C3.4 protein-coding 1605957 NOL9 nucleolar protein 9 16710414,15489334,14702039,12477932,12429849,12107410,11790298,8889548 79707 NM_024654,AL591866,CH471130,AK026976,AK091284,AK289653,BC009257,BC012439,BC063639,BC073860,BC094836,BC105095,BC110849,BC112278,BE383415,BF969522,BI828678,BU728251,BX393201,CA391953 NP_078930,CAI16071,EAW71550,BAB15611,BAF82342,AAH09257,AAH12439,AAH63639,AAH94836,AAI05096,AAI10850,AAI12279,Q2NL84,Q5SY16 Hs.59425 FLJ23323|MGC131821|MGC138483 protein-coding 1346713 NOLA1 nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs) This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. 1580863 8766832,17903301,15635413,15489334,15146197,15044956,12477932,12244096,11790298,11509230,11074001,10757788,7566098,1821816,16189514 54433 NM_018983,NM_032993,AC126283,CH471057,AA311919,AJ276003,AY780787,BC003413,CN428426,CR618648 NP_061856,NP_127460,EAX06253,EAX06254,CAB76563,AAV98357,AAH03413,Q9NY12,ABM85083,ABW03722 Hs.69851 GDB:11502917 GAR1 protein-coding 1319777 NOLA2 nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs) This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Two transcript variants encoding different isoforms have been found for this gene. 1580863 15889794,15635413,15489334,15044956,14702039,12477932,12429849,12020816,11790298,11074001,11042152,9847074,9843512 55651 Q96P96,Q9NX24 NM_001034833,NM_017838,AC136632,CH471165,AF161404,AF401217,AF401219,AJ293309,AK000486,BC000009,BC006387,BG827491,BM913344,CR457238,CR612055,BE797477 NP_001030005,NP_060308,EAW53848,AAF28964,AAL02173,AAL02175,CAC08452,BAA91198,AAH00009,CAG33519,Q96P96,Q9NX24,AAH06387 Hs.27222 GDB:11508565 NHP2|NHP2P protein-coding 1346349 NOLA2P1 nucleolar protein family A, member 2 pseudogene 1 414200 NG_005297,AL158040 bA360G10.4 pseudo 1353461 NOLA3 nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs) This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. 1580863 9843512,16601202,17507419,15814878,15635413,15489334,15044956,12477932,11074001 55505 NM_018648,AB043103,AC021822,CH471125,AB043104,BC008886,BC063023,BM554889,BQ218536,CR612859 NP_061118,BAA96107,EAW92303,BAA96133,AAH08886,AAH63023,Q9NPE3 Hs.14317 GDB:11502919 MGC70651|NOP10|NOP10P protein-coding 1354376 NOLC1 nucleolar and coiled-body phosphoprotein 1 1580863 17353931,7657714,17531812,17081983,17038328,17001309,16964243,16344560,16341674,15302935,15146197,15144186,14702039,12477932,12446766,12167624,10567578,9373149,9016786,8630004,8125298,7584028,7584026,16189514,9679133,11571651,9013635,9553145,8972203 9221 AL500527,CH471066,NM_004741,AI937215,AK056755,AK225101,AL520884,AY820769,BC001883,BC006769,BM473772,BM849059,CN312242,CR592002,CR602162,CR608343,CR609020,CR614920,D21262,DA588285,Z34289 NP_004732,CAH72220,EAW49713,EAW49714,EAW49715,EAW49716,EAW49717,EAW49718,AAV67777,AAH01883,AAH06769,BAA04803,CAA84063,Q14978,Q5VV70,Q96J17,Q9BUV3,ABM82788,ABM85977 Hs.523238 GDB:9784387 KIAA0035|NOPP130|NOPP140|NS5ATP13|P130 protein-coding 1345070 NOM1 nucleolar protein with MIF4G domain 1 Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM] 15715967,15231748,12477932,10329000,17353931 64434 NM_138400,AC006357,CH236954,CH471149,AY576779,BC007902,BC011187 NP_612409,EAX04563,AAT39521,AAH07902,Q5C9Z4 Hs.15825 GDB:10794646 C7orf3|SGD1 chromosome 7 open reading frame 3 protein-coding 1350134 NOMO1 NODAL modulator 1 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). 1580863 15231747,16713569,15862967,15616553,15257293,15231748,12477932,10493829,9267806,8076819,1310294 23420 NM_014287,XM_001716489,AC136443,U91318,AK125530,BC065535,BI459869,CR602584,X57398 NP_055102,XP_001716541,AAC15783,AAH65535,CAA40655,P69849,Q15155 Hs.583391 Nomo|PM5 protein-coding 1343780 NOMO2 NODAL modulator 2 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). Two transcripts encoding different isoforms have been described. 15616553,15489334,15257293,12477932,10493829,9373149,9267806,8125298 283820 NM_173614,NM_001004060,XM_001716493,AC126755,AC136618,AK225803,AL512687,AL832855,BC028389,BC041131,BG830626 NP_775885,NP_001004060,XP_001716545,CAC21645,CAI46162,AAH28389,AAH41131,Q4G177,Q5JPE7,Q9H049 Hs.460141 Nomo|PM5 protein-coding 1354081 NOMO3 NODAL modulator 3 This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. 16713569,16344560,15616553,15257293,12477932,10737800,10493829,9267806,8076819 408050 NM_001004067,AC136624,AI752685,AU132793,AW503115,BC006531,BC013837,BG982746,BI459221,BI596373,BM507095,BQ954152,BU169681,BU526741,BX383108,CD653707,DA392676,DB461977,DR760717 NP_001004067,AAH06531,P69849,Q1LZN2,AAI56527 Hs.460141 Nomo protein-coding 1343083 NONO non-POU domain containing, octamer-binding 1580863 12171929,16148043,8371983,9360842,18077367,17639083,17507659,17452459,17081983,16964243,16344560,16189514,15635413,15590677,15489334,15057275,14702039,12944487,12810069,12672026,12477932,12417296,12403470,12358429,11897684,11790298,11710964,11525732,11259580,10858305,10821857,9756848,9393982,9341872,8626664,8439294 4841 BC069639,CR456761,CR590679,CR594755,CR597886,CR605046,CR609556,CR614502,CR618550,CR619917,CR623522,L14599,L32558,U02493,U89867,NM_007363,AL590762,CH471132,Y11289,AK055406,AK291140,AU119361,BC002364,BC003129,BC004113,BC010049,BC012141,BC025280,BC025352,BC028299,BC069616 AAH69616,AAH69639,CAG33042,AAC37578,AAA36727,AAA03427,AAC51852,Q15233,Q15559,NP_031389,EAX05298,EAX05299,EAX05300,CAA72157,BAF83829,AAH02364,AAH03129,AAH12141,AAH28299 Hs.533282,Hs.700344 GDB:129549 NMT55|NRB54|P54|P54NRB protein-coding 733462 NOP5/NOP58 nucleolar protein NOP5/NOP58 10679015,17081983,16565220,15635413,15489334,14702039,12477932,12429849,12417735,12032086,11042152,10648622,10606270,16189514,15574333,10925205 51602 NM_015934,AC064836,CH471063,AF123534,AF161469,AF263608,AK023975,AL117554,BC001707,BC009306,BC018805,BC032592,CR591676,CR618609 NP_057018,AAY24145,EAW70308,AAD27610,AAF29084,AAF91394,CAB55989,AAH09306,AAH32592,Q9Y2X3,ABM81794,ABW03291 Hs.471104 HSPC120 protein-coding 1602692 NOPE neighbor of Punc E11 12477932,10997877,10708514 57722 NM_020962,AC105129,CH471082,AB046848,AB052622,AK124045,BC040648 NP_066013,EAW77723,EAW77724,EAW77725,BAB13454,BAB86306,Q8TDY8,AAI52806 Hs.591101 DDM36|FLJ42051|KIAA1628 protein-coding 619551 NOS1 nitric oxide synthase 1 (neuronal) 1581141,1581142,1581143,1581144,1580863,1358519,1300048,1642127,1642129,1642130,1642131,1581689,1642136,1642141,1642145,1642151,1642133,1642134,1642140,1642144,1642148,1642132,1642138,1642142,1642147 7545544,18391107,18257968,18086269,18058820,18042235,18024942,17970747,17924542,17690329,17660395,17579350,17536218,17492662,17466601,17459909,17448763,17418914,17365914,17359361,17351927,17351066,17328085,17174475,17161551,17161399,16950998,16848803,16690617,16569214,16413742,16389274,16380905,16238787,16229016,16191396,15856945,15765269,15699372,15548660,15466472,15287858,15251453,15242984,15194886,15191553,15180967,15167446,15161750,15119548,15105416,15094474,15088155,15080837,15075442,15044250,15033959,14980078,14760158,14759629,14757827,14752097,14711010,14623375,14615895,14602725,12947326,12911502,12908999,12816735,12802542,12787407,12782337,12777376,12759556,12715886,12686399,12646269,12630910,12572877,12531780,12490535,12485841,12477932,12445599,12421162,12403769,12237228,12210288,12140778,12081996,12081486,11960979,11890749,11849441,11849436,11786430,11747091,11668616,11591728,11590170,11546971,11525805,11511520,11404282,11284722,11112111,11086993,11052978,11043403,10874031,10824095,10681501,10518591,10488080,10400690,10221915,10187848,9837926,9808772,9791007,9459447,9353265,9111048,8922396,8879752,8864115,8625413,7685260,7682706,7678401,7558036,7528745,7515942,1385308,1375933,10443886,10203575,10068656,9870939,8943206,7561697,8581564,7521167,12690449 1581141,1581142,1581143,1581144,1358519,1642127,1642129,1642130,1642131,1581689,1642136,1642141,1642145,1642151,1642133,1642134,1642140,1642144,1642148,1642132,1642138,1642142,1642147 4842 NM_000620,AC026364,AC068799,AY098642,AY445095,CH471054,U17326,AJ004918,BC033208,D16408,L02881,U17327,U31466 NP_000611,AAR07069,EAW98108,EAW98110,AAB60654,CAA06218,AAH33208,BAA03895,AAA36376,AAA62405,AAB49040,O75713,P29475,AAI56400,EAW98109 Hs.654410 GDB:132579 IHPS1|NOS|nNOS protein-coding 732118 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. 9459447,18430503,18337493,18235038,18077426,17903306,17576865,17565224,16710414,16648850,16202394,16146415,15707951,15489334,12477932,11867766,11086993,11076863,10827173,9455484 9722 NM_014697,NM_001126060,AL450163,AL512785,AL590408,CH471067,AB007933,AF037070,AI198232,AY841899,BC041382,BC112295 NP_055512,NP_001119532,CAI15779,EAW90700,BAA32309,AAC39656,AAW57298,AAI12296,O75052,Q3T551,AAI11929,AAI18500 Hs.655000 CAPON|MGC138500 c-terminal pdz domain ligand of neuronal nitric oxide synthase protein-coding 730951 NOS2A nitric oxide synthase 2A (inducible, hepatocytes) Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. 1580261,1580264,1580265,1580268,1298023,1580936,1580937,1580938,1580939,1580940,1580941,1582119,1358529,1300048 10842192,18398039,18349295,18287876,18279675,18254476,18184270,18091741,18079278,18077487,18050214,18029351,18024942,17991113,17955236,17940019,17928287,17908769,17884453,17881462,17855767,17854833,17849424,17804409,17174475,17160951,17159127,17149600,17072962,17070777,17070441,17065568,17062169,17062130,16950998,16950790,16937436,16928712,16924421,16919057,16889995,16865710,16848803,16823855,16820946,16813666,16771679,16703578,16684839,16681724,16634870,16574921,16569659,16557582,16543247,16464859,16456243,16442500,16352737,16335796,16326029,16311916,16290060,16288199,11114180,11050162,10446807,10409685,10393859,10074942,9239710,9160867,8760410,8699932,8653828,8645258,7692964,7682706,7558036,7544004,7532248,7531687,7531613,7528106,7528017,7526541,7524082,7522054,7514565,7509810,7504305,10443886,10203575,10068656,9870939,8943206,7561697,15285794,16282997,16265698,16260491,16243805,17177683,16211247,16195370,16191398,16136006,16126846,16105645,16020977,15940772,15922861,15856945,15856071,15849807,15784171,15754329,15695237,15683721,15654505,15642965,15631946,15631944,15617837,15609395,15601772,15583989,15532709,15494775,15492785,15484300,15482484,15482399,15349722,15284293,15275951,15271950,15259072,15242984,15226517,15222037,15222024,15205363,15180967,15174013,15115662,15112337,15107292,15100320,15044505,15026539,14991947,14985675,14981908,14764920,14740870,14715665,14677189,14638407,14636285,14634838,14623011,14616549,14614209,14614131,14574328,14551604,12960352,12958187,12948935,12937869,12919943,12875991,12828935,12824008,12816735,12800233,12799216,12788789,12777376,12768436,12736741,12732844,12709136,12690222,12687343,12641410,12631094,12607534,12601489,12598314,12590140,12578118,12552317,12533668,12509623,12508391,12490535,12489192,12486325,12482371,12462194,12459168,12452003,12445599,12445411,12433515,12431203,12421162,12406306,12399227,12381793,12374680,12296866,12243747,12237122,12223351,12221289,12195390,12174362,12167619,12140750,12135432,12125143,12119468,12117977,12097137,12081717,12080081,12060397,11985871,11985259,11978184,11956620,11907646,11880293,11849384,11783017,11761338,11692109,11579140,11525805,11457725,11443559,11424980,11422783,11397889,11297817,11294696,17761309,17720813,17709521,17703412,17693978,17687170,17675371,17674321,17657783,17600738,17553719,17507652,17492662,17492134,17482959,17475563,17456572,17408468,17404026,17355643,17328085,17322004,17320454,17296902,17272999,17267840,17240318,17233833,17223386,17189532 1580261,1580264,1580265,1580268,1298023,1580936,1580937,1580938,1580939,1580940,1580941,1582119,1358529 4843 NM_000625,A39980,AC130289,CH471159,DQ060518,L26055,AB022318,BC130283,D26525,L09210,L24553,S75615,S76479,U05810,U20141,U31511,X73029,AF068236 NP_000616,CAA02473,EAW51048,EAW51049,EAW51050,AAY43131,BAA37123,Q9UD42,Q9UM94,AAC19133,AAI30284,BAA05531,AAA59171,AAA36375,AAD14179,AAD14226,AAA56666,AAB60366,AAB49041,CAA51512,P35228 Hs.709191 GDB:139215 HEP-NOS|INOS|NOS|NOS2 protein-coding 1343413 NOS2B nitric oxide synthase 2B (pseudogene) 1580863 12736741,11525805,7558036,7522210 201288 NG_001568,AC107983,AL353997,U18332,U18333 AAC50232,AAC50233,P81272 GDB:547926 pseudo 1350414 NOS2C nitric oxide synthase 2C (pseudogene) 1580863 7558036,11525805,9441901 645740 NG_006943,AC015688,U18334,U18335,U65699 AAC50245,Q14961 GDB:547943 pseudo 735618 NOS3 nitric oxide synthase 3 (endothelial cell) 1580269,1580271,1580277,1580278,1580279,1580280,1580281,1580282,1580143,1580283,1580284,1580286,1580863,1358752,2292097,2292119,2292124,2292067,2292077,2292105,2292131,2292133,2292068,2292075,2292076,2292078,2292110,2292111,2292070,2292088,2292100,2292113,2292134,2292140,2292074,1580937,2292125,2292142,2292080,2292081,2292109,2292089,2292090,2292091,2292103,2292146,2292098,2292126,2292129,1642825,2289120,2292144,2292151,2292087 10376603,8999856,9188442,9580552,10781589,11149895,16722822,16807357,17848177,9794441,7512951,10559837,18486767,18486763,18476541,18468205,18463669,18463668,18429753,18426819,18421850,18413207,18401556,18398337,18398039,18396156,18377542,18349107,18344712,18334945,18331440,18325347,18319732,18313829,18309169,18307033,18300744,18299866,18298848,18277167,18271057,18269824,18263601,18257968,18251679,18246059,18243394,18242170,18230825,18211539,18203895,18183499,18180853,18173546,18164968,18155481,18095216,18091741,18086269,18079690,18075462,18070351,18069999,18067521,18057537,18046500,18024942,18001743,18000600,17996131,17980690,17977947,17977523,17974890,17973941,17971446,17971359,17970747,17970703,17942113,17935708,17934860,17933968,17927970,17920311,17919260,17904064,17891484,17888222,17881665,17878755,17868426,17855349,17850909,17762636,17728799,17726138,17697943,17690329,17661837,17660395,17658478,17658282,17652893,17644577,17641403,17636229,17633563,17622934,17617024,17605790,17594145,17587753,17586411,17586410,17579350,17563560,17558849,17551576,17545677,17535904,17520398,17502619,17498125,17496213,17492662,17492127,17481637,17479212,17456572,17449720,17444275,17437735,17418102,17408468,17404185,17401490,17399719,17385193,17372034,17367796,17365914,17365407,17356797,17355643,17351927,17347485,17345061,17330057,17327434,17327342,17306574,17303584,17296902,17291796,17289126,17287556,17285538,17282736,17267840,17264164,17262178,17259657,17243909,17179726,17174475,17165166,17165044,17164495,17160951,17151815,17149600,17145829,17145676,17130304,17126309,17121133,17117898,17115991,17112651,17110473,17108813,17101543,17099031,17082721,17082183,17067432,17063466,17062340,17051589,17043430,17038532,17029342,17024134,17023679,17018701,17009241,17003932,17001225,17000887,16996686,16979000,16978134,16978133,16962929,16962475,16956834,16951945,16950998,16940230,16938300,16925467,16923191,16919532,16915032,16906563,16891095,16889995,16884727,16881803,16873402,16871271,16864653,16848803,16845248,16842840,16842798,16837812,16834924,16821086,16820915,16818212,16813604,16807677,16804086,16802365,16782031,16779830,16776950,16776623,16765468,16761221,16760206,16755443,16741369,16683402,16679407,16645153,16636650,16634870,16633797,16620829,16616146,16616056,16609365,16601841,16597326,16581274,16565556,16543247,16542455,16538535,16522905,16520888,16503213,16497648,16495774,16492203,16487505,16469708,16467782,16463158,16461337,16458450,16427644,16424363,16409219,16401309,16377020,16368881,16364825,16364824,16362312,16338973,16338217,16337503,16332659,16326932,16326029,16305685,16302209,16298355,16284093,16271308,16270749,16269583,16263504,16260885,16244776,16238787,16225848,16219514,16213264,16210567,16203873,16171581,16168996,16168297,16164743,16161413,16157324,16154428,16148605,16144836,16136006,16135813,16133202,16129794,16123422,16123371,16113535,16113046,16109907,16100725,16100023,16093452,16081872,16081038,16078594,16076760,16060860,16059745,16043642,16041245,16038712,16032374,16026776,16013960,16009421,16950802,16941147,16007000,15985432,15099281,15091109,15079780,15073390,15068395,15061658,15044505,15044322,15044250,15033959,15016421,15013333,15013322,15007011,15001455,14999203,14989558,14983058,14966047,14963277,14767013,14760800,14742696,14687036,14682408,14680603,14671555,14667898,14656742,14656731,14652493,14645200,14639046,14634838,14624405,14623178,14619577,14614209,14613286,14610742,14610283,14597982,14583681,14583572,14581470,14580231,14576373,14570928,14561757,14561241,14555463,14553962,14551684,14527840,14520629,12974901,12974139,12969888,12966609,12963737,12947275,12937869,12923396,12921626,12908999,15110896,12907461,12899665,12875659,12867761,12860259,12445681,12446846,12445599,12446767,12437348,12436344,12431478,12429631,12424427,12421496,12421162,12413777,12406848,12402580,12399227,12380903,12379480,12372469,12364359,12364322,12362496,12359981,12243851,12234944,12228851,12228731,12226742,12204432,12195160,12193156,12190658,12176955,12144818,12142730,12138290,12138283,12136949,12124224,12124201,12121349,12113283,12110779,12089165,12082592,12077489,12076969,12065317,12063294,12060567,12044319,12028410,12018926,12015245,12010932,12000044,11978951,11967250,11963567,11961297,11954859,11950698,11930675,11926202,11918626,11908569,11906374,11905585,11903359,11894144,11880293,11858501,11826287,11823442,11802531,11797337,11756575,11755935,11751705,11745998,11744239,11740345,11729179,11711497,11710784,11707686,11693755,11692081,11677358,11668050,11597199,11579346,11551002,11549906,11530961,11525805,11522715,11507973,11485372,11473956,11436560,11436125,11434508,11408851,11397791,11394896,11361058,11354626,11297817,11239195,10203575,1378832,10068656,10443886,9870939,8943206,7561697,12676772,10510297,15970594,15967063,15961981,15943229,15942458,15940388,15925107,15921596,15916766,15913034,15905730,15905312,15890549,15879922,15870070,15864134,15856945,15848528,15846275,15845030,15840037,15838728,15831156,15825964,15801202,15797845,15796389,15784171,15778808,15775780,15763077,15756709,15749707,15748612,15744332,15743995,15740983,15733970,15727257,15724677,15722551,15721845,15718364,15718036,15712782,15705632,15699938,15698605,15665327,15662218,15658098,15654505,15636445,15628301,15608562,15595935,15569929,15565175,15563875,15532370,15530459,15526284,15522324,15517628,15505116,15498534,15494775,15492785,15490108,15489334,15486047,15483745,15476407,15475025,15474760,15466663,15459608,15385810,15381390,15375006,15364897,15358548,15351855,15340336,15338496,15333482,15331206,15327994,15327404,15326089,15320907,15299097,15292102,15288120,15287858,15284070,15269839,15255799,15242984,15240653,15234981,15233974,15233973,15226517,15214944,15213521,15213514,15212666,15211444,15196865,15182855,15180995,15180967,15171544,15168725,15973775,15166218,15162796,15136572,15132873,15125257,15120696,15119548,15115168,15112434,12857749,12837457,12832346,12826928,12825146,12824189,12819869,12816735,12802542,12738608,12732844,12727149,12724620,12716763,12713149,12709136,12701818,12699878,12697290,12689917,12687832,12687343,12684755,12678961,12678200,12668492,12666069,12651037,12651036,12644590,12644458,12641536,12631094,12621312,12621164,12605344,12600950,12590926,12586536,12574107,12544508,12531780,12514663,12511559,12501214,12500225,12494183,12483466,12480940,12478411,12477932,12477509,12859429,12476417,12473258,12469628,12468767,11222793,11209024,11190479,11140838,11132600,11131266,11082161,11067831,11030378,10867216,10681501,10493752,10393859,10359729,10074942,9915847,9737779,9373149,9109759,8910295,8889548,8125298,7688726,7541039,7519987,7515611,7514568,7509596,7475956,2539094,1385404,1379542 1580269,1580271,1580277,1580278,1580279,1580280,1580281,1580282,1580143,1580283,1580284,1580286,1358752,2292097,2292119,2292077,2292105,2292131,2292133,2292068,2292075,2292076,2292078,2292110,2292111,2292070,2292088,2292100,2292113,2292134,2292140,2292074,1580937,2292125,2292142,2292080,2292081,2292109,2292089,2292090,2292091,2292103,2292146,2292098,2292126,2292129,1642825,2289120,2292144,2292151,2292087 4846 NM_000603,AACC02000108,AC010973,AF032908,AF387340,AF415200,AF519768,CH471173,D26607,L10709,L23210,L26914,X76303,AF400594,AK223636,AK225827,AK292928,BC063294,BC069465,BU731828,CB987955,CR596138,DQ256129,DQ256130,DQ256131,M93718,M95296,S80791 NP_000594,EAL24494,AAB87083,AAK71989,AAL07497,AAM74944,EAW54069,BAA05652,AAA36365,AAA36373,AAA36374,CAA53950,AAK83389,BAD97356,BAF85617,AAH63294,AAH69465,ABB79838,ABB79839,ABB79840,AAA36364,AAA36372,AAD14336,O14937,P29474,Q548C1,Q6GSL5,Q96J98,Q96P37,Q9UDC6 Hs.647092 GDB:209976 ECNOS|NOS III|eNOS nitric oxide synthase 3, endothelial cell 2289327,2289330 BW383_H,BW384_H protein-coding 1320636 NOSIP nitric oxide synthase interacting protein 11149895,15548660,16135813,15635413,15489334,14702039,12477932,10810093 51070 NM_015953,AC010619,CH471177,AF132959,AK092444,AK291535,BC009299,BC010077,BC011249,BC047314,CR599484 NP_057037,EAW52501,EAW52502,EAW52503,AAD27734,BAF84224,AAH09299,AAH10077,AAH11249,Q9Y314 Hs.7236 CGI-25 protein-coding 1348478 NOSTRIN nitric oxide synthase trafficker Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM] 631971,1580863 12446846,16722822,16807357,16234328,15596140,14702039,12477932 631971 115677 NM_052946,NM_001039724,AC009475,AC069137,CH471058,AJ532842,AK002203,AK093444,AK123698,AK290254,BC014189,BC093072,CR607601,CR609846,DQ402497 NP_443178,NP_001034813,AAX93055,AAY24097,EAX11292,EAX11293,EAX11294,EAX11295,CAD58724,BAE46614,BAF82943,AAH14189,AAH93072,ABD62889,Q53TH8,Q8IVI9,ABM83597,ABM87125 Hs.189780 DaIP2|MGC20702 protein-coding 737367 NOTCH1 Notch homolog 1, translocation-associated (Drosophila) This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. 1358543,1580863,724389,1334450,1580758,1580761,1580759,1580760 10713164,1831692,18427106,18311147,18296609,18239137,18219106,18192230,18184405,18155729,18084619,18079963,18069660,18056171,18055449,17984306,17980397,17967789,17948123,17922104,17901244,17874453,17873882,17851046,17822320,14583609,14567914,12960155,12913000,12829602,12795601,12781689,12768030,12697902,12682059,12644465,12532332,12527910,12509463,12496471,12486116,12482957,12477932,12374741,12370358,12370315,12357247,12208848,12145413,12123574,12065598,12050162,12048239,11978185,11964309,11940670,11848684,11836628,11827460,11777909,11739188,17804701,14602722,11700865,11604511,11604490,11585921,11518718,11511084,11425854,17716607,17671232,17664272,17662764,17652726,17646409,17636029,17604336,17573339,17560996,17513037,17497677,17434929,17425682,17404512,17392684,17368826,17353266,17344417,17317671,17316355,17309564,17301032,17284587,17252014,17186020,17114293,17107915,17090547,17046738,17028268,17008890,16990763,16951331,16887975,16880534,16871543,16785210,16738328,16729972,16713569,16707600,16688224,16651424,16622004,16618808,16608439,16536739,16530044,16507111,16449526,16434391,16378632,16365048,16344560,16322473,16317090,16298817,16287852,16239965,16179393,16160079,16136053,16096376,16079893,16025100,16011479,15987768,15976178,15904468,15824732,15817159,15781650,15774577,15756589,15650752,15576031,15563588,15563463,15492845,15492044,15485896,15472075,16822655,15448134,15280477,15240571,15213460,15146197,15058751,15044485,14996707,14762442,14756819,14726396,14678992,14670925,14645224,14638857,11418662,11226752,11112321,11101851,11006133,10935626,10882063,10837024,10747963,10669757,10637481,10221902,10206645,10082551,10079256,10077672,9653148,9620803,9590294,9244302,9169836,9111040,8755477,8749394,8642313,7698746,7512837,1764995,11404076,11564735,15546612 1358543,724389,1334450,1580758,1580761,1580759,1580760 4851 NM_017617,NG_007458,AL354671,AL592301,CH471090,AB209873,AF308602,AK000012,BC013208,BC039147,BC046127,BC049843,CN431067,CR457221,DA324222,M73980 NP_060087,CAI13934,EAW88241,BAD93110,AAG33848,BAA90883,CAG33502,AAA60614,P46531,Q59ED8,Q5SXM3,Q6IAD4,Q9NXX4 Hs.495473 GDB:131400 TAN1|hN1 notch gene homolog 1, (drosophila) protein-coding 733357 NOTCH2 Notch homolog 2 (Drosophila) This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. 1580762,1580763,1580863,69906 10079256,9720489,9528802,9032325,8661110,7698746,9244302,12531696,11306509,1303260,12760378,18311147,18239137,18184405,18087195,17675579,17652726,17573339,17401372,17081983,16899352,16773578,16289162,15976178,15621797,15507668,15492845,15302935,15231748,14726396,14702039,14609630,14567914,12931033,12794074,12477932,12370315,11978185,11836628,11577080,11532344,11518718,11346656,11101851,10958687,10551863,10221902,15565166 1580762,1580763,69906 4853 NM_024408,AL359752,AL512503,AL596222,CH471122,U50549,X80115,AF308601,AF315356,AK027869,AL049386,AL133036,BC071562,BG718124,U77493 NP_077719,CAI18974,EAW56718,EAW56719,AAB17664,AAA36377,AAG37073,BAB55419,CAB61366,AAH71562,AAB19224,Q04721,Q6IQ50,Q96JU8,Q9UFD5,Q13560,Q5VTD0 Hs.487360 GDB:361148 AGS2|hN2 notch gene homolog 2, (drosophila) protein-coding 1352421 NOTCH2NL Notch homolog 2 (Drosophila) N-terminal like 16713569,16303743,14702039,14673143,12477932 388677 NM_203458,AL592307,AK000887,AK022008,AK075065,AL833369,BC010154,BC019835,BC065219,BC084572,BC090943,BX537434,CR610471 NP_982283,CAH73993,CAH73994,BAC11381,AAH10154,AAH19835,AAH65219,AAH84572,AAH90943,CAD97676,Q7Z3S9 Hs.655156,Hs.683989,Hs.709526 N2N protein-coding 732750 NOTCH3 Notch homolog 3 (Drosophila) This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 625426,1580764,1580765,1580766,1580767,1580768,1580769,1334441,1580863 15304596,15694192,15378071,15096408,15057824,14767686,14714274,12810003,12678157,12511775,12482954,12480758,12370315,12210282,12136071,12134625,11978185,11891328,11861701,11706120,11559313,11518718,11404076,11101851,11032621,11006133,10802807,10716263,10712431,10079256,9388399,8878478,8794055,8485581,4557798,16717210,16492242,16426270,16107360,16009764,15987768,17292860,7698746,7835890,18339869,18184405,18075987,18069660,18060036,17996090,17939118,17878719,17853970,17822871,17822320,17804716,17696940,17690848,17573339,17390743,17331978,17301032,17158237,16998728,16899352,16833034,16807713,16796587 625426,1580764,1580765,1580766,1580767,1580768,1580769,1334441 4854 NM_000435,AC004257,AC004663,AF058900,CH471106,X79439,AB209447,CR611252,DQ156540,DQ156541,DQ156542,DQ156543,U97669 NP_000426,AAC04897,AAC15789,AAC14346,EAW84466,CAA55955,BAD92684,AAB91371,Q14962,Q59FL3,Q9UM47 Hs.8546 GDB:361163 CADASIL|CASIL notch 3 protein-coding 1354309 NOTCH4 Notch homolog 4 (Drosophila) This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. This gene may be associated with susceptibility to schizophrenia in a small portion of cases. An alternative splice variant has been described but its biological nature has not been determined. 1358753,1580863 17054719,16969274,16894623,16538185,16378929,16007227,15684396,15653273,15531924,15211628,15187023,15115916,15091315,15009827,14966150,14961038,14732589,14730600,14701863,14651518,12873802,12814948,12782960,12627456,12605097,12589427,12496471,12477932,12370315,11909975,11901359,11836628,11803454,11585921,11518718,11407996,11381258,11381257,11239712,11119607,11112321,11101851,11078798,10932176,10645000,11823422,7671825,8681805,11532344,9576833,18239137,18184405,17822320,17696940,17496152,17452726,17192952,10221902,7835890,10079256,9693032,9168133 1358753 4855 NM_004557,AB023961,AB024520,AB024578,AL662830,AL662884,AL845464,AL845509,BX284686,BX284927,D86566,U89335,AK131314,AK290785,AL705928,BC033869,BC063815,BC140782,BQ023880,D63395,U95299 NP_004548,BAB20317,BAA88951,BAA88952,CAI17543,CAI18362,CAI18564,CAM26209,CAM25850,BAA13116,AAC63097,BAF83474,AAH63815,AAI40783,BAA09708,AAC32288,Q5SPL1,Q5SSY7,Q5STG5,Q6P3V5,Q99466 Hs.436100 GDB:306600 FLJ16302|INT3|MGC74442|NOTCH3 protein-coding 1348141 NOTO notochord homeobox 15231714 344022 XM_292889,XM_941998,XM_001719354,AC010913 XP_292889,XP_947091,XP_001719406 Hs.694384 notochord homolog (xenopus laevis) protein-coding 1606450 NOTUM notum pectinacetylesterase homolog (Drosophila) 12477932 147111 NM_178493,AC137723,CH471099,AB062438,BC036872,BC060882,CR596332,CR596699,CR622664 NP_848588,EAW89729,BAB93501,AAH36872,AAH60882,Q6P988 Hs.106137 protein-coding 732996 NOV nephroblastoma overexpressed gene 1580971,1580863 12902636,12695522,12519873,12477932,12147716,12050162,11891184,11502835,10852911,10474687,10084601,9927660,8622864,7520150,1334251,16189514,18245529,18245471,18089610,18066593,17968313,17566092,17463287,17340618,17163153,17101694,16675545,16670264,16600215,16344560,16145471,15824736,15611078,15489334,15340161,15181016,15053922,14606958,14519668 1580971 4856 NM_002514,AC021733,CH471060,CS021388,X78351,AY082381,BC015028,CR457432,CR591257,CR623165,DA162276,X96584 NP_002505,EAW91984,EAW91985,CAI58925,CAA55146,AAL92490,AAH15028,CAG33713,CAA65403,P48745,Q6I9S3,Q9UDE4,ABM82105,ABM85287 Hs.235935 GDB:136898 CCN3|IGFBP9 nov protein protein-coding 1346053 NOVA1 neuro-oncological ventral antigen 1 This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. 1580863 8558240,8398153,18218628,16713569,16041372,15489334,15146197,12808107,12477932,10737800,10719891,10368286,9154818 4857 NM_006489,NM_002515,NM_006491,AL079343,AL132716,CH471078,AI569678,AK226114,AK289639,AK291022,AK291468,BC075038,BC075039,BE644739,BE762927,BX431656,CN409914,CR616714,R60636,U04840,Z70771 NP_006480,NP_002506,NP_006482,EAW65990,EAW65991,EAW65992,EAW65993,EAW65994,EAW65995,BAF82328,BAF83711,BAF84157,AAH75038,AAH75039,AAA16022,CAA94810,P51513 Hs.31588 GDB:9785794 Nova-1 protein-coding 1317566 NOVA2 neuro-oncological ventral antigen 2 1580863 10735272,17436242,15057824,10676814,10368286,9789075,9344654 4858 NM_002516,AC006540,AC008623,AC011545,CH471126,AF083898,U70477 NP_002507,AAD13116,AAF98365,EAW57397,AAC72355,AAB88661,Q9HDB7,Q9UNW9 Hs.375439 GDB:9786115 ANOVA|NOVA3 protein-coding 732308 NOX1 NADPH oxidase 1 Voltage-gated proton (hydrogen) channels play an important role in cellular defense against acidic stress. They are unique among ion channels with respect to their extremely high selectivity, marked temperature dependence, and unitary conductance, which is 3 orders of magnitude lower than that of most other ion channels. NOX1 is a homolog of the catalytic subunit of the superoxide-generating NADPH oxidase of phagocytes, gp91phox. Two transcript variants encoding different isoforms have been found for this gene. 633401,1580972,1580863,1580973 10485709,10615049,18397177,18331504,18309110,18076063,18073139,18055552,18037128,18023288,18005670,17963706,17913709,17908694,17611574,17562703,17460729,17336700,17200123,17182005,17079781,17015444,16880255,16778989,16762923,16636067,16507994,16469512,16468977,16380495,16329988,16230485,16162660,16049136,15993942,15797632,15772651,15708375,15489334,15452132,15389790,15375166,15322091,15256399,15203187,15110393,15102091,14674687,14670934,14617635,12955083,12817011,12716910,12657628,12477932,11970841,11970839,10974555,9882350,15509740,15847608 633401,1580972,1580973 27035 NM_007052,NM_013955,CH471115,DQ314883,Z83819,AF127763,AF166326,AF166327,AF166328,AJ438989,AK292201,BC075014,BC075015,BX956931,DQ424904 NP_039249,NP_008983,EAX02820,EAX02821,EAX02822,EAX02823,EAX02824,ABC40742,CAI42334,CAI42335,CAI42336,CAI42337,AAD38133,AAF23232,AAF23233,AAF23234,CAD27735,BAF84890,AAH75014,AAH75015,ABD83669,Q1ZYL4,Q5H9D4,Q8TCT3,Q9Y5S8 Hs.592227 GDB:11500861 GP91-2|MOX1|NOH-1|NOH1 nadh/nadph mitogenic oxidase subunit p65-mox protein-coding 1351952 NOX3 NADPH oxidase 3 NADPH oxidases, such as NOX3, are plasma membrane-associated enzymes found in many cell types. They catalyze the production of superoxide by a 1-electron reduction of oxygen, using NADPH as the electron donor.[supplied by OMIM] 1580863 9882350,15509740,17336700,17140397,16949073,16507994,15824103,15181005,14574404,11376945,10974555 50508 AF190122,NM_015718,AL031773,CH471051,AF229177 NP_056533,CAI19957,EAW47689,AAG17121,AAG15435,Q9HBY0 Hs.247776 GDB:10796379 GP91-3 protein-coding 731542 NOX4 NADPH oxidase 4 Oxygen sensing is essential for homeostasis in all aerobic organisms. A phagocyte-type oxidase, similar to that responsible for the production of large amounts of reactive oxygen species (ROS) in neutrophil granulocytes, with resultant antimicrobial activity, has been postulated to function in the kidney as an oxygen sensor that regulates the synthesis of erythropoietin (EPO; MIM 133170) in the renal cortex.[supplied by OMIM] 1580980,1580863 10869423,17983808,17940286,17717289,17585072,17553579,17501721,17481637,17472580,17369289,17200123,16987004,16754784,16563235,16532036,16324151,16249442,16230378,16179589,16019190,15927447,15883163,15721269,15706079,15618545,15572675,15489334,15356101,15322091,15256399,15210697,15155719,15102091,14966267,14702039,14670934,12482831,12477932,11997235,11376945,11032835,9882350,15509740 1580980 50507 NM_016931,AP001815,AP002404,CH471185,AB041035,AF254621,AF261943,AJ704725,AJ704726,AJ704727,AJ704728,AJ704729,AK057189,AK291830,AY288918,BC040105,BC051371 NP_058627,EAW59353,EAW59354,EAW59355,BAA95695,AAF68973,AAF87572,CAG28807,CAG28808,CAG28809,CAG28810,CAG28811,BAF84519,AAP41109,AAH40105,AAH51371,Q9NPH5 Hs.371036 GDB:10796381 KOX|KOX-1|RENOX protein-coding 1353478 NOX5 NADPH oxidase, EF-hand calcium binding domain 5 NOX5 is a novel NADPH oxidase that generates superoxide and functions as a H+ channel in a Ca(2+)-dependent manner.[supplied by OMIM] 1580863 11483596,17947454,17603936,17587483,17346712,17275676,17214994,17164239,17122966,16873416,16707484,16339585,16179589,16177112,15994299,14982937,14702039,12186557,12121572,11376945,9882350,15509740 79400 NM_024505,AC027088,AC087639,DQ314884,AF317889,AF325189,AF325190,AF353088,AF353089,AK026011,AK074058,AK074071,AY166601,BC125097,BC125098,CR610432,DQ413001 NP_078781,ABC40743,AAG33638,AAK57193,AAK57194,AAK57338,AAK57339,BAB15319,BAB84884,BAB84897,AAO33926,AAI25098,AAI25099,ABD92513,Q08AN2,Q08AN3,Q96PH1 Hs.657932 GDB:11508693 MGC149776|MGC149777|NOX5A|NOX5B nadph oxidase, ef hand calcium-binding domain 5 protein-coding 1315446 NOXA1 NADPH oxidase activator 1 NADPH oxidases (NOXs) catalyze the transfer of electrons from NADPH to molecular oxygen to generate reactive oxygen species (ROS). The NOX activator NOXA1 can stimulate both NOX1 (MIM 300225) and NOX2 (CYBB; MIM 300481), but it appears to be more effective in activating NOX1 (Opitz et al., 2007 [PubMed 17189823]).[supplied by OMIM] 1580863 17913709,17602954,17189823,16713569,14702039,12716910,12657628,12477932,12473664,9610721 10811 NM_006647,BX322799,AB095031,AF039697,AK055812,AK098341,AY255769,AY927790,AY927791,BC041594,BC110840 NP_006638,BAC76710,AAC18046,AAP13480,AAY16126,AAY16127,AAH41594,AAI10841,Q86UR1 Hs.495554 FLJ25475|MGC131800|NY-CO-31|SDCCAG31|p51NOX protein-coding 1317206 NOXO1 NADPH oxidase organizer 1 NADPH oxidases (NOXs) catalyze the transfer of electrons from NADPH to molecular oxygen to generate reactive oxygen species (ROS). NOX organizers, such as NOXO1, target NOX activators (see NOXA1; MIM 611255) to NOX and also target NOX to different subcellular compartments (Opitz et al., 2007 [PubMed 17189823]).[supplied by OMIM] 1580863 12657628,12477932,12473664,14617635,12716910,17189823,17126813,16911517,16329988,15949904,15824103,15489334,15326186,15181005 124056 NM_144603,NM_172168,NM_172167,AC005606,CH471112,AB097667,AF532983,AF532984,AF532985,AF539796,AK292197,AY191359,AY255768,BC015917 NP_653204,NP_751908,NP_751907,EAW85581,EAW85582,EAW85583,EAW85584,BAC76711,AAM97925,AAM97926,AAM97927,AAN75141,BAF84886,AAO38665,AAP13479,AAH15917,Q8NFA2 Hs.191762 MGC20258|P41NOX|P41NOXA|P41NOXB|P41NOXC|SH3PXD5|SNX28 protein-coding 1349909 NP nucleoside phosphorylase This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. 1580863,1600263 6771276,16964310,10884411,3029074,18281957,18281956,17221831,16169070,15582582,15571269,15489334,14706628,14702039,13679062,12928150,12914785,12477932,12180982,12068295,11964161,11453975,9737781,9305964,9305963,9305962,9067751,8931706,6087295,2104852,1931007,1923769,1560016,1384322,100152 1600263 4860 NM_000270,AL355075,AY817667,CH471078,J02672,M13951,M13952,M13953,AK098544,AK126154,AK307340,AK307364,AK313490,BC104206,BC104207,BC106074,CR407607,CR592961,CR594642,CR595160,CR598701,CR598851,CR598982,CR599285,CR600826,CR601251,CR601413,CR604278,CR604317,CR606974,CR608191,CR608198,CR608316,CR612303,CR612939,CR614792,CR624654,CR625788,X00737 NP_000261,AAV68044,EAW66458,EAW66459,AAA36460,BAC05327,BAG36272,AAI04207,AAI04208,AAI06075,CAG28535,CAA25320,P00491,Q8N7G1,Q9P1G4 Hs.75514 GDB:120239 FLJ94043|FLJ97288|FLJ97312|MGC117396|MGC125915|MGC125916|PNP|PRO1837|PUNP protein-coding 1602833 NPAL1 NIPA-like domain containing 1 15489334,14702039,12477932 152519 NM_207330,AC096749,CH471069,AK095299,AL832997,BC067881,CR749484 NP_997213,EAW93050,AAH67881,CAH18311,Q6NVV3 Hs.134190 DKFZp686A06115 protein-coding 1605636 NPAL2 NIPA-like domain containing 2 15317751,14702039,12477932 79815 NM_024759,AP003438,AP003439,CH471060,AK024017,BC132687 NP_079035,EAW91777,EAW91778,EAW91779,BAB14779,AAI32688,Q9H841 Hs.309489 FLJ13955 protein-coding 1603619 NPAL3 NIPA-like domain containing 3 16710414,15489334,12477932,9110174,8619474 57185 BC063583,BX538110,BX640883,CR597336,CR601331,CR626180,U90918,NM_020448,AL031431,CH471134,AF131814,BC001265,BC012492 AAH63583,CAD98023,CAE45938,Q5TH81,Q6P499,Q7Z354,Q96EB9,NP_065181,CAI21412,CAI21413,CAI21414,CAI21415,EAW95130,AAH01265,AAH12492 Hs.523442 DJ462O23.2|DKFZp686E22155|RP3-462O23.3 protein-coding 1320711 NPAS1 neuronal PAS domain protein 1 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. 1580863 15635607,9012850,15489334,12477932,9079689 4861 NM_002517,AC008755,CH471126,AB054002,BC039016,CR605653,U51628,U77968 NP_002508,EAW57454,BAB21098,AAH39016,AAC51214,AAB47248,Q99742 Hs.79564 GDB:9838008 MOP5|PASD5 protein-coding 1320157 NPAS2 neuronal PAS domain protein 2 The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. 1580863 9012850,9576906,17984998,17457720,17453337,17264841,17096334,16628007,16528748,15489334,14702039,14645221,12655319,12477932,11441147,11439184,10864874,9079689,8889548 4862 BC051351,AC016738,AC092168,AC106891,NM_002518,CH471127,AK026791,AK091939,AK095806,AK128586,AK226093,BC028107,BC035412,BC072383,BM724652,BX640699,U51625,U77970 NP_002509,AAY14822,EAX01830,EAX01831,EAX01832,EAX01833,EAX01834,EAX01835,BAB15554,AAH28107,AAH51351,AAH72383,AAC51211,AAB47250,Q53SQ3,Q99743,Q9H5R6 Hs.156832,Hs.705895 GDB:9838010 FLJ23138|MGC71151|MOP4|PASD4 protein-coding 1316218 NPAS3 neuronal PAS domain protein 3 1580863 18317462,18195134,15820313,12746393,10534623 64067 NM_022123,NM_173159,AL109769,AL133305,AL139296,AL157689,AL158802,AL161851,AL355886,CH471078,AB054575,AB054576,AB055962,AF164438,AL079281,AY157302,AY157303 NP_071406,NP_775182,EAW65930,BAB21221,BAC53754,BAC53756,AAG35180,CAB45154,AAO17043,AAO17044,Q8IXF0,AAI46318 Hs.659456 GDB:11510932 MOP6|PASD6 protein-coding 734007 NPAS4 neuronal PAS domain protein 4 NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM] 15489334,14702039,14701734,12477932 266743 NM_178864,AP001107,CH471076,AB049469,AK094025,AK096253,BC105001,BC105003 NP_849195,EAW74525,BAC19830,BAC04271,BAC04738,AAI05002,AAI05004,Q8IUM7,ABZ92417 Hs.256036 Le-PAS|NXF|PASD10 protein-coding 1323667 NPAT nuclear protein, ataxia-telangiectasia locus 17974976,17967892,17449237,16344560,15555599,14612403,12887926,12724424,12665581,12477932,12473189,10995386,9472014,9205109,8923007,8789452,8743993 4863 NM_002519,AP001925,AP002433,CH471065,D89854,AK290020,AK291687,BC040356,BC050561,BC094769,D83243,DA338219,U58852,X91196,X97186 NP_002510,EAW67106,EAW67107,BAA21367,BAF82709,BAF84376,AAH40356,AAH50561,BAA11861,AAB02735,CAA62602,CAA65824,Q14207,Q7KYL7 Hs.171061,Hs.367437 GDB:9798400 E14 protein-coding 736156 NPB neuropeptide B Neuropeptide B (NPB) is an endogenous peptide ligand for G protein-coupled receptor-7 (GPR7; MIM 600730).[supplied by OMIM] 12118011,12401809,15489334,12477932 256933 NM_148896,AC137723,CH471099,AB085942,AF525737,BC033173,BC126128,BC126485,AF525738 NP_683694,EAW89704,BAC07175,AAP80794,AAI26129,AAI26486,Q8NG41,AAP80795 Hs.585089,Hs.708916 PPL7|PPNPB preproneuropeptide b protein-coding 1314235 NPBWR1 neuropeptides B/W receptor 1 1580863 7590751,12401809,17437806,15797961,15607941,12719537,12477932,12130646,12118011 2831 BC107101,NM_005285,AC087348,CH471068,U22491,BC069117 AAH69117,AAI07102,P48145,Q6NTC7,NP_005276,EAW86722,AAC50197 Hs.248117 GDB:371714 GPR7|MGC129755 protein-coding 1349448 NPBWR2 neuropeptides B/W receptor 2 The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor. The encoded protein is similar in sequence to another G protein-coupled receptor (GPR7), and it is structurally similar to opioid and somatostatin receptors. This protein binds neuropeptides B and W. This gene is intronless and is expressed primarily in the frontal cortex of the brain. 1580863 7590751,12401809,15797961,12719537,12477932,12130646,11780052 2832 BC067483,NM_005286,AL121581,CH471077,U22492,BC067481,BC067482 AAH67483,P48146,Q6NWQ5,NP_005277,CAC17004,EAW75161,AAC50198,AAH67481,AAH67482,Q6NWQ6 Hs.248118 GDB:371716 GPR8 protein-coding 1318462 NPC1 Niemann-Pick disease, type C1 This gene was identified as the gene that when mutated, results in Niemann-Pick C disease. The encoded protein is a putative integral membrane protein that contains motifs consistent with a role in intracellular transport of cholesterol to post-lysosomal destinations. 1601483,1580863 16757520,9927649,12719428,12554680,10821832,18216017,17989072,17662536,17160616,17020879,17008555,16778374,16644737,16174794,16054367,15908696,15774455,15681833,15632139,15596783,15489334,15459971,15347664,15342556,15314240,15069562,12477932,12408188,12401890,12398991,12125814,11907140,11754101,11479732,11349231,11333381,10521297,10521290,10480349,10425213,9990080,9866822,9634529,9559270,9458174,9245994,9211849,8446622 1601483 4864 NM_000271,AC010853,AF123046,AF157379,AF338230,CH471088,AF002020,AI242474,BC063302,BP217319,CA438246,CR600440,AB209048 NP_000262,AAF28875,AAD48006,AAK25791,EAX01158,AAB63982,AAH63302,O15118,Q59GR1,BAD92285 Hs.464779,Hs.529006 GDB:138178 NPC protein-coding 1345181 NPC1L1 NPC1 (Niemann-Pick disease, type C1, gene)-like 1 1580863,1642184,1642185,1642183 17140581,18031309,17662536,17571164,17102949,17005902,16829661,16518588,16449388,16297596,16098225,15928087,15790807,15679830,15671032,15604518,14976318,12690205,12477932,10783261 1642184,1642185,1642183 29881 NM_001101648,NM_013389,AC004938,CH236960,CH471128,AF192522,AF192523,AY437865,AY515256,AY927603,BC117178 NP_001095118,NP_037521,EAL23753,EAW61096,EAW61097,EAW61098,AAF20396,AAF20397,AAR97886,AAS56939,AAI17179,Q17RV5,Q9UHC9 Hs.567486 GDB:10796042 protein-coding 1353089 NPC2 Niemann-Pick disease, type C2 This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. 1601483 17018531,15110773,12719428,11125141,17895371,17470133,17387528,16772431,16606609,16374838,15937921,15489334,14662784,12591949,12477932,12447927,12398991,12125814,11567215,10479477,9373149,8924505,8418812,8125298,1693137,16189514 1601483 10577 NM_006432,NG_007117,AC005479,CH471061,AK222474,BC002532,CR595914,CR601885,CR605546,CR608935,CR609490,CR622486,CR624497,X67698 NP_006423,EAW81176,EAW81177,EAW81178,BAD96194,AAH02532,CAA47928,P61916,Q53HV6,ABM82833,ABM86019 Hs.433222 GDB:9957680 HE1|MGC1333|NP-C2 protein-coding 1352810 NPCDR1 nasopharyngeal carcinoma, down-regulated 1 246734 Q9BY65 AF134979 1353727 NPDC1 neural proliferation, differentiation and control, 1 1580863 16189514,15563841,15489334,15229225,14702039,12477932,11245976,11042687,10970871,9373149,9181131,8125298,7878019 56654 NM_015392,AL807752,CH471090,AF272357,AF283247,AF285836,AF327349,AK054950,AK074793,AK225091,AL050221,BC004217,CR593516,CR595396,CR595553,CR597998,CR605121,CR618636,CR619157,CR621251,CR621502,CR626507 NP_056207,CAI12774,CAI12775,EAW88335,AAF76225,AAF82603,AAK27328,AAL56010,BAC11212,CAB43321,AAH04217,Q5SPY8,Q8NCE1,Q8WXX4,Q9NQX5 Hs.105547 GDB:10796869 CAB|CAB-|CAB-1|CAB1|DKFZP586J0523 protein-coding 1322762 NPEPL1 aminopeptidase-like 1 1580863 15489334,14702039,12477932,11853319,11780052,9373149,8125298 79716 NM_024663,AL139349,CH471077,AB075854,AK021645,AK124059,AK124479,AK126390,AK223094,AL833971,BC020507,BM544905,CR607400 NP_078939,EAW75474,EAW75475,EAW75476,EAW75477,EAW75478,EAW75479,EAW75480,BAB85560,BAB13861,BAC85762,BAD96814,CAD38816,AAH20507,Q59G13,Q6ZVU8,Q8NDH3,ABM82551,ABM85742,ABM87826 Hs.554211,Hs.654868 GDB:11506341 FLJ11583|FLJ42065|bA261P9.2 protein-coding 1354170 NPEPPS aminopeptidase puromycin sensitive This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. 1580863 10329370,17353931,9048733,15489334,14706550,14702039,12477932,11435692,10582526,10037494,8889548,8082751,7592939,3171591 9520 NM_006310,AC025682,AF252387,CH471109,AA864462,AJ132583,AK095877,AK096491,AK096709,BC065294,BM723238,DB476543 NP_006301,AAF70086,EAW94811,EAW94812,EAW94813,CAA10709,AAH65294,P55786 Hs.443837 GDB:9959008 MP100|PSA protein-coding 736374 NPFF neuropeptide FF-amide peptide precursor FMFRamide-related protein precursor plays a role in the regulation of heart rate and blood pressure and the modulation of morphine-induced antinociception. FMRFAL encodes a preproprotein which is cleaved to form two active peptides with similar function. 1580863 9224703,10851242,17854890,17224450,16336216,12609745,12477932,12149260,11587714,11325787,11024015,9786165,8804117,7784266 8620 NM_003717,AC023509,AF503515,CH471054,AF005271,BC104234,BC104235 NP_003708,EAW96721,EAW96722,AAB64288,AAI04235,AAI04236,O15130,Q3SXL4 Hs.104555 GDB:9956037 FMRFAL protein-coding 1351737 NPFFR1 neuropeptide FF receptor 1 633416,1580863 11024015,11025660 633416 64106 NM_022146,AB065729,AL355138,CH471083,AB040104,AF268898,AF330055,BC131580,EU432128 NP_071429,BAC05950,CAI12599,EAW54387,BAB17677,AAG41397,AAK94199,AAI31581,ABY87927,Q5T6D8,Q9GZQ6 Hs.302026 FLJ10751|GPR147|NPFF1|NPFF1R1|OT7T022 g protein-coupled receptor 147 protein-coding 733261 NPFFR2 neuropeptide FF receptor 2 10079187,10851242,17503329,17157836,16336216,15608144,15127947,12609745,12477932,11024015,10837915 10886 NM_004885,NM_053036,AC106051,AC106898,CH471057,AF119815,AF236083,AF257210,AF268899,AF330053,AJ311393,AK290937,BC101636,BC113713 NP_004876,NP_444264,EAX05647,EAX05648,EAX05649,EAX05650,AAD22047,AAK58513,AAF87078,AAG41398,AAK94197,CAC85427,BAF83626,AAI01637,AAI13714,Q9Y5X5 Hs.99231 GDB:9958447 GPR74|NPFF2|NPGPR protein-coding 1344630 NPHL1 nephrolithiasis 1 (X-linked) 8099916 4865 GDB:433705 1317734 NPHP1 nephronophthisis 1 (juvenile) This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis. 1580863 12205563,12244321,12006559,9361039,10665934,17855640,17409309,16885411,16782989,16762963,16713569,16308564,15661758,15489334,15138899,12872123,12872122,12477932,11493697,10839884,10739664,10712196,9856524,9587065,9373149,9326933,8852662,8125298,7806215,16189514 4867 NM_000272,NM_207181,AC013268,AC092664,CH878608,AF023674,AI433852,AJ001815,AK225600,BC009789,BC032939,BC062574,BX571745 NP_000263,NP_997064,EAW50631,EAW50632,EAW50633,EAW50634,EAW50635,EAW50636,EAW50637,AAC51771,CAA05030,AAH09789,AAH62574,CAE11870,O15259,Q7Z2W3 Hs.280388 GDB:128050 JBTS4|NPH1|SLSN1 protein-coding 1342817 NPHP3 nephronophthisis 3 (adolescent) This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined. 1580863 12872122,18371931,17855640,15489334,15381417,14702039,12477932,12056414,11752023,11134256,10631142 27031 NM_153240,AC055732,CH471052,AB056657,AI200954,AK055253,AK055893,AK092910,AK093012,AK094015,AL832863,AY257864,AY257865,AY257866,AY257867,BC063277,BC131729,CR749498,AL832877 NP_694972,EAW79187,BAB70891,BAB71038,BAC04018,BAC04268,CAI46200,AAP83423,AAP83424,AAP83425,AAP83426,AAI31730,CAH18321,Q7Z491,Q7Z494,Q8NAA7,CAI46202 Hs.511991 GDB:9992590 DKFZp667K242|DKFZp781K1312|FLJ30691|FLJ36696|KIAA2000|NPH3 protein-coding 1351118 NPHP4 nephronophthisis 4 This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined. 1580863 12244321,12006559,12205563,17954299,17855640,17672918,16339905,15776426,15661758,14702039,12477932,11920287,9734811 261734 NM_015102,AL035406,AL356261,AL356693,CH471130,AB014573,AF537130,AK124074,AK127333,AL117405,AY118228,BC015402,BC028627,BC040520,BC050076,BU621804 NP_055917,CAH72672,CAH72673,EAW71507,EAW71508,EAW71509,EAW71510,EAW71511,BAA31648,AAN06814,BAC86935,CAB55906,AAM78558,AAH15402,AAH28627,AAH40520,AAH50076,O75161,Q5T5J9,Q5VXT8,Q6ZSL3,Q86XT6,Q8IWC0,Q96BN1,Q9UFQ2 Hs.462348 GDB:9955025 KIAA0673|SLSN4 protein-coding 732787 NPHS1 nephrosis 1, congenital, Finnish type (nephrin) Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM] 737766,737765,1580863 16525419,9660941,18449463,18258597,18212058,17923684,17413422,17395751,17371932,17290294,17255128,17211152,16968782,16968734,16644649,16543952,16288986,16010520,15942677,15780077,15659563,15634346,15504938,15339792,15331416,15167446,15149332,15086927,14747939,14736962,14633607,12961083,12920248,12865409,12853730,12846735,12668668,12663475,12660326,12631336,12495287,12436341,12407641,12368218,12324903,11961028,11854170,11733557,11692461,11692176,11562357,11241530,10997929,10652016,10577936,10550324,10393930,9915943,15545998 737766,737765 4868 NM_004646,AC002133,AF035835,AF126957,AF190637,BX103667 NP_004637,AAC39687,AAF36451,AAG17141,O60500,AAI56196,AAI56936 Hs.122186 GDB:342105 CNF|NPHN nephrin protein-coding 736986 NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) This gene encodes the glomerular protein podocin which plays a role in the regulation of glomerular permeability, and acts as a linker between the plasma membrane and the cytoskeleton. Defects in this gene are the cause of autosomal recessive steroid-resistant nephrotic syndrome (SRN). SRN is characterized by onset between three months and five years, resistance to steroid therapy and rapid progression to end-stage renal disease. An alternative splice variant has been described but its full length sequence has not been determined. 1580863 15659563,15496146,15489334,15327385,15322893,15253708,15167446,14871423,14675423,14570703,12961083,12707396,12687458,12649741,12617336,12477932,12464671,12368218,12089392,11908478,11854170,11805166,11733557,11729243,11562357,11241850,10802674,8589695,12424224,10742096,18216321,18058136,17968527,17942957,17934764,17899208,17699384,17635752,17393177,17371932,17218332,17216259,17211152,17175312,16968734,16898497,16572591,16481888,16439601,15954915,15942677,15817495,15780077,15769810 7827 NM_014625,NG_007535,AJ279246,AL160286,CH471067,AJ279254,BC029141,BX095913 NP_055440,CAB83272,EAW91049,EAW91050,CAB83216,AAH29141,Q5T8E5,Q5T8E6,Q9NP85 Hs.412710 GDB:9955617 PDCN|SRN1 protein-coding 1343791 NPIP nuclear pore complex interacting protein 12477932,11586358,10493829 9284 NM_006985,AC002045,AC138932,CH471092,AF132984,AK124516,AK126798,AK160377,BE253379 NP_008916,AAC05437,AAC05438,EAW83295,EAW83296,AAD34394,BAC85871,BAC86699,BAD18720,O15102,O15103,Q0P618,Q3LIA7,Q6ZMK5,Q9UND3,AAI46423 Hs.694739 GDB:9955614 FLJ42525|FLJ44848 protein-coding 1348386 NPL N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) N-acetylneuraminate pyruvate lyase (EC 4.1.3.3) controls the cellular concentration of sialic acid by catalyzing the conversion of sialic acid into acylmannosamines and pyruvate (Wu et al., 2005 [PubMed 16147865]).[supplied by OMIM] 1580863 16710414,16147865,15489334,12477932,11737202,11318611 80896 NM_030769,AL355999,AL513344,CH471067,AF338436,AY336748,BC034966,BC042003,BC058003,BC125051,CR592936 NP_110396,CAH71702,CAI16502,EAW91132,EAW91133,EAW91134,EAW91135,AAK25795,AAQ82432,AAH34966,AAH42003,AAH58003,AAI25052,Q9BXD5 Hs.496969 C1orf13|MGC149582|MGC61869|NPL1|c112 protein-coding 735438 NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) 17331469,15489334,14702039,12665801,12477932,10819331,10811609,11574150 55666 NM_017921,AC139149,AC139530,AK000664,AK023046,AK023272,AK074322,AL133629,AL834300,BC013406,BC025930,DC322260,CH471099,AB040932 NP_060391,BAA91314,BAB14372,BAB14499,CAD38971,AAH25930,Q8TAT6,ABM86282,EAW89661,EAW89662,EAW89663,BAA96023 Hs.464333 FLJ20657|FLJ23742|KIAA1499|NPL4|npl4 homolog of yeast nuclear protein localization 4 protein-coding 735682 NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 1600902,1600907,1580863 15087454,9121481,9094689,12080348,10211837,16130169,11051553,18371977,18332108,18316603,18308931,18268276,18261272,18259216,18192111,18165222,18081718,17998938,17990177,17968318,17957027,17951246,17943167,17922009,17920239,17879352,17875528,17768124,17715399,17690700,17690253,17639390,17637816,17637812,17616680,17602943,17598835,17597811,17569113,17549383,17537995,17535915,17504301,17488663,17440048,17410190,17318229,17315018,17306368,17277230,17151698,17147251,17081983,17076533,16926303,16916647,16912078,16870548,16857742,16855788,16835382,16825495,16766651,16725311,16720834,16709933,16679321,16678898,16645213,16574551,16565220,16547420,16541144,16455956,16455950,16415342,16376875,16205118,16170350,16076867,16046528,16041368,15994285,15973451,15964625,15872011,15870172,15831697,15772089,15684379,15665273,15659725,15644315,15635413,15589822,15514966,15489334,15456888,15342556,15310764,15190079,15184379,15144954,15082766,14759373,14730621,14656879,14636574,14563642,14559993,14519847,14506644,12882984,12748172,12511551,12477932,12450141,12429849,12374805,12209603,12058066,12057857,12031912,11888936,11812799,11790298,11602260,11278991,11215285,10503877,9819383,9763551,9642267,9548374,9150948,9150888,9092824,9092633,8778315,8633037,8620867,8570204,8562957,8471164,8224012,8122112,8089149,7826206,7821789,7794916,7628555,7593322,7542384,3944116,2775293,2713355,2602120,2478125,2429957,2404140,2109912,2017166,16354571,17353931,16189514,14743216,15944709 1600902,1600907 4869 NM_002520,NM_199185,NM_001037738,AC091980,AC093246,CH471062,U89309,AB042278,AI687394,AK000472,AK290652,AY347529,AY740634,AY740635,AY740636,AY740637,AY740638,AY740639,AY740640,BC002398,BC003670,BC008495,BC009623,BC012566,BC014349,BC016716,BC016768,BC016824,BC020467,BC021668,BC021983,BC024716,BC050628,BC107754,BP291033,BT007011,BU661768,CR590741,CR594093,CR595866,CR596514,CR597478,CR601970,CR603012,CR604830,CR605572,CR608915,CR610343,CR612984,CR618462,CR618961,D28343,DQ303464,EF429251,J02590,M23613,M26697,M28699,M31004,X16934 NP_002511,NP_954654,NP_001032827,EAW61443,EAW61444,EAW61445,EAW61446,EAW61447,EAW61448,EAW61449,AAB94739,BAB40600,BAA91188,BAF83341,AAQ24860,AAW67752,AAW67753,AAW67754,AAW67755,AAW67756,AAW67757,AAW67758,AAH02398,AAH03670,AAH08495,AAH09623,AAH12566,AAH14349,AAH16716,AAH16768,AAH16824,AAH21668,AAH21983,AAH50628,AAI07755,AAP35657,BAA05709,ABC40399,ABP97432,AAA36473,AAA36380,AAA36385,AAA58386,AAA36474,CAA34809,P06748,Q9BTI9,Q9BYG9,Q9NX34,ABM82958,ABM86149 Hs.557550 GDB:138455 B23|MGC104254|NPM nucleophosmin 1 protein-coding 1345415 NPM1P1 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 1 8471164 4870 NG_001162,AC011712,L15315 GDB:138456 NG1-1.6|NPMP1 pseudo 1350397 NPM1P10 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 10 10837 AL021330 GDB:9958397 pseudo 1353809 NPM1P11 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 11 10836 AC004538 GDB:9958396 pseudo 1345257 NPM1P12 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 12 10835 NG_000887,AC004941 GDB:9958395 pseudo 1349766 NPM1P13 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 13 12853948 10834 NG_000886,AC004994,CH236948 GDB:9958394 pseudo 1351696 NPM1P14 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 14 12853948 10833 NG_000885,AC005192,CH236947 GDB:9958393 pseudo 1353642 NPM1P15 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 15 10832 AC005569 GDB:9958392 1346507 NPM1P16 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 16 10831 AC007068 GDB:9958391 1345083 NPM1P17 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 17 10830 NG_001233,AC007159,AF164688 GDB:9958390 pseudo 1346879 NPM1P18 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 18 10829 NG_001232,AC007349,AF164689,CH236951 GDB:9958389 pseudo 1348866 NPM1P19 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 19 10828 NG_001231,AF164690,AL023803 GDB:9958388 pseudo 1346945 NPM1P2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 2 8471164,2157848 4871 X54171 GDB:138458 NG2-6|NPMP2 pseudo 1349461 NPM1P20 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 20 326608 NG_002597,AL137779 pseudo 1351103 NPM1P3 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 3 8471164 4872 NG_001163,AC005569,AC074051,L15316 GDB:138459 NG2-6|NG3-3|NPM1P15|NPMP3 pseudo 1353129 NPM1P4 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 4 8471164 4873 NG_001164,L15317 GDB:138460 NG4-5|NPMP4 pseudo 1344626 NPM1P5 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 5 8471164 4874 NG_001165,AC116903,L15318 GDB:138461 NG5-4|NPMP5 pseudo 1346390 NPM1P6 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 8471164 4875 NG_001166,AC105015,L15319 GDB:138462 NG6-4|NPMP6 pseudo 1349973 NPM1P7 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 7 8471164 4876 NG_001167,L15320 GDB:138463 NG7-6|NPMP7 pseudo 1351779 NPM1P8 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 8 10359 GDB:9956459 1347718 NPM1P9 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 9 392428 NG_005106,AF164687,U70984 GDB:9956455 pseudo 737293 NPM2 nucleophosmin/nucleoplasmin, 2 1299559 12581654,12714744,14702039,12477932,12209603 1299559 10361 NM_182795,AC091171,CH471080,AK094267,AY262113,AY262114,BC068078,CR603169 NP_877724,EAW63730,EAW63731,EAW63732,AAP33134,AAP33135,AAH68078,Q6NVH6,Q86SE8 Hs.131055 GDB:9956462 MGC78655 protein-coding 1349032 NPM3 nucleophosmin/nucleoplasmin, 3 The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. It is highly homologous to the murine Npm3 gene. Based on the structural similarity of the human NPM3 gene product to nucleoplasmin and nucleophosmin, NPM3 may represent a new member of this gene family, and may share basic functions with the molecular chaperones. 1580863 17081983,15635413,15489334,12477932,11790298,11722795,10736259,9177783 10360 NM_006993,AC010789,AF079325,CH471066,AF081280,AY049737,BC041067,BC054868,CR601718,CR603429,CR621461 NP_008924,AAD51496,EAW49745,AAC31609,AAL12172,AAH41067,AAH54868,O75607 Hs.90691 GDB:9956461 PORMIN|TMEM123 protein-coding 1604498 NPNT nephronectin 15754038,12975309,11470831,11470814,8889548 255743 NM_001033047,AC093782,AC109361,CH471057,AK172856,AK290029,AL832465,AW607534,AY358336,BC131587,BM970581,CD109759 NP_001028219,EAX06194,EAX06195,EAX06196,EAX06197,BAF82718,AAQ88702,Q6UXI9,AAI66654 Hs.518921 EGFL6L|POEM protein-coding 730878 NPPA natriuretic peptide precursor A 1580137,1579982,1580863,1578335,1580001,731210,1626244,1626242 16713569,16710414,16368448,16291573,16117728,16113566,16100725,15837528,15666592,15648549,15489334,15118286,15111511,15033935,15017020,14698679,14523183,12960255,12890912,12883099,12794112,12777209,12687344,12547834,12514664,12505872,12484513,12477932,12270761,12193960,12190955,12145475,12135603,16721833,12102171,12082592,6230082,6547996,14718574,18294255,18212314,18092954,17984371,17927564,17901852,17890485,17890443,17702963,17693975,17672826,17584735,17580193,17525707,17460430,17292492,17259761,17243909,17219958,17051589,17036337,16962475,16875975,16870210,12052474,11985060,11906465,11884416,11706124,11447495,11409652,11408388,10880574,9232196,8043577,7857923,6542248,6238331,6203042,6097248,6095119,6095118,3158606,2972276,2934979,2531377,2169733,1826098,1309330,15542826 1580137,1579982,1578335,1580001,731210,1626244,1626242 4878 NM_006172,AL021155,CH471130,EU326308,K02043,K02399,M54947,X01470,X01471,BC005893,K02044,M30262 NP_006163,CAA15955,CAI23398,EAW71717,ACA05916,AAB59379,AAA35529,CAA25699,CAA25700,AAH05893,AAA51730,AAA35669,P01160,Q5JZE1,ABM84041,ABM87388,ABW03581,AAA35528 Hs.75640 GDB:118727 ANF|ANP|CDD-ANF|PND protein-coding 69139 NPPB natriuretic peptide precursor B This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis. 1580138,1580139,1580143,1580863,1580140,70484,1626243,1642202,1642205,1642206,1642191,1642194,1642195,1642192,1642199,1642203,1642265,1642266,1642294 14960748,12727915,14737067,7601467,18374882,18362234,18347270,18219371,18194671,18163013,18049439,18037753,18037739,17959862,17901852,17891611,17881654,17879024,17855407,17822384,17785934,17721754,17719005,17690842,17669797,17643631,17607502,17607499,17567649,17554401,17519779,17517347,17490778,17482153,17478552,17412758,17381357,17365940,17343213,17340039,17323015,17289171,17186137,17175893,17149558,17112494,17099013,17097992,17086116,16962477,16962475,16940194,16937127,16875975,16870210,16831981,16829184,16801175,16754798,16733598,16733597,16722030,16716660,16710414,16648193,16644347,16624649,16600203,16594987,16546444,16495466,16446217,16386619,16377932,16338268,16338263,16338262,16338261,16338248,16298451,16293687,16236931,16236924,16236896,16203929,16189514,16185779,16179421,16117728,16061439,16037399,15947264,15911064,15875778,15735222,15732251,15689309,15686715,15619076,15616804,15604421,15525883,15489334,15277419,15118286,14967157,14726474,14645255,12890912,12861161,12832317,12771003,12742987,12612980,12601551,12477932,12084525,12015190,11999635,11750283,11120697,9832489,8890728,8837222,7901875,15644628,2597152,2522777,2138890,2136732,1309330 1580138,1580139,1580143,1580140,70484,1626243,1642202,1642205,1642206,1642191,1642194,1642195,1642192,1642199,1642203,1642265,1642266,1642294 4879 NM_002521,AB037521,AL021155,CH471130,EU326309,M31776,AJ708502,BC025785,CR541976,CR542003,M25296 NP_002512,BAA90441,CAA15956,EAW71718,EAW71719,ACA05917,AAA35603,AAH25785,CAG46774,CAG46800,AAA36355,P16860,Q9P2Q7 Hs.219140 GDB:127884 BNP protein-coding 1351265 NPPC natriuretic peptide precursor C Natriuretic peptides comprise a family of 3 structurally related molecules: atrial natriuretic peptide (ANP; MIM 108780), brain natriuretic peptide (BNP; MIM 600295), and C-type natriuretic peptide, CNP, encoded by a gene symbolized NPPC. These peptides possess potent natriuretic, diuretic, and vasodilating activities and are implicated in body fluid homeostasis and blood pressure control.[supplied by OMIM] 1580150,1580149,1601488,1580863,1580770,1642294,1642268,1642292,1642297,1642267,1642296 15598085,17951249,17709640,17487764,17289171,16777970,16179391,16109786,16006435,15911070,15815621,15489334,15231517,14654233,12736257,12709393,12477932,12452325,12379507,12167597,11533490,9232196,9155593,8743538,8674895,8353861,8330189,7698765,2018508,1855454,1472040,1339402,1309330 1580150,1580149,1601488,1580770,1642294,1642268,1642292,1642297,1642267,1642296 4880 AC013435,NM_024409,CH471063,D28874,D90337,M64710,BC069120,BC105065,BC105067 NP_077720,AAX88912,EAW70984,BAA22154,BAA14351,AAA35703,AAH69120,AAI05066,AAI05068,P23582 Hs.247916 GDB:250346 CNP protein-coding 732882 NPR1 natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM] 1580154,1580174,1580175,1580176,1580863,737701,628585,1626243,1300048 12547834,14737067,14960748,12727915,7601467,18436476,18360023,18306933,17672826,17460430,16986166,16875975,16778132,16710414,16262696,15911610,15911069,15911067,15489334,15459247,14646971,12872042,12855709,12794112,12506509,12483301,12477932,12135318,12121994,11952097,11851379,11704663,9618281,9528788,9405681,8786123,7954658,7901875,7857923,2569967,1979052,1309330,10581150 1580174,1580175,1580176,737701,628585,1626243 4881 NM_000906,AB010491,AB046472,AF190631,AL713889,CH471121,EU326310,AK025024,BC063304,S72628,X15357 NP_000897,BAA31199,BAC53955,AAF01340,CAI13613,CAI13614,EAW53284,ACA05918,ACA05919,AAH63304,AAD14112,CAA33417,P16066,Q8IXF8 Hs.490330 GDB:125199 ANPRA|ANPa|GUC2A|GUCY2A|NPRA natriuretic peptide receptor 1 protein-coding 733765 NPR2 natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. 1580771,1580772,1580863,1601488,1300048 1327579,10082481,17652215,17429599,15911610,15911070,15722353,15489334,15459247,15371450,15262909,15164053,15146390,14988324,14759258,12709393,12477932,12022755,11556325,11464256,11208455,10073597,9634515,9624142,8765168,7679284,2570358,1979052 1580771,1580772,1601488 4882 AB005647,AL133410,CH471071,EU326311,AJ005282,BC023017,BC096340,BC096341,BC096342,BC096343,BQ446138,L13436,NM_003995 NP_003986,BAA81737,CAI10987,EAW58337,EAW58338,EAW58339,EAW58340,ACA05920,ACA05921,ACA05922,CAA06466,AAH23017,P20594,Q5TCV3,Q5TCV9,AAI66642 Hs.78518 GDB:125200,GDB:9862243 AMDM|ANPRB|GUC2B|GUCY2B|NPRB|NPRBi natriuretic peptide receptor 2 protein-coding 731641 NPR3 natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) The family of natriuretic peptides (see MIM 108780) elicit a number of vascular, renal, and endocrine effects that are important in the maintenance of blood pressure and extracellular fluid volume. These effects are mediated by specific binding of the peptides to cell surface receptors in the vasculature, kidney, adrenal, and brain.[supplied by OMIM] 1581459,1580773,737701,1580863,1580175,1580774,1580149 17951249,8620881,10468599,17890443,17081983,16870210,15911072,15911071,15785005,15459247,15017020,12872042,12768436,11556325,11533490,7996793,7901875,7727388,2169733,2162522,1979052,1309330 1581459,1580773,737701,1580175,1580774,1580149 4883 NM_000908,AB101582,AC008766,AC026703,CH471118,AF025998,AI335695,AK290870,BC131540,BF224187,BQ014050,M59305,X52282 NP_000899,BAC56126,EAX10797,EAX10798,EAX10799,AAB88801,BAF83559,AAI31541,AAA51734,CAA36523,P17342,Q60I31 Hs.237028,Hs.619466 GDB:125201 ANPRC|GUCY2B|NPRC natriuretic peptide receptor 3 protein-coding 2291750 NPS neuropeptide S 18181564,16926187,16790440,16720571,16574794,16282594,16279934,15312648 594857 NM_001030013,AL355316,BD168686 NP_001025184,P0C0P6,AAI48466,AAI56666 Hs.643423 protein-coding 1347629 NPSR1 neuropeptide S receptor 1 This gene is a member of the G protein-coupled receptor 1 family and encodes a plasma membrane protein. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Mutations in this gene have also been associated with this disease. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 18340359,18305139,18285428,17854592,17702965,17669576,17285544,17210045,16938805,16926187,16829631,16790440,16522461,16098057,15990798,15947423,15941840,15777626,15764725,15741670,15710598,15312648,15073379,14757815,14702039,12690205,12679517,12477932 387129 NM_207172,AACC02000103,AC004788,AC005174,AC005492,AC005493,AC005680,AC005853,AC005862,CH471073,DQ272236,AK124929,AK172847,AY255536,AY310326,AY310327,AY310328,AY310329,AY310330,AY310331,NM_207173,AY310332,AY956446,AY956447,AY956448,BC132693,BC132695 NP_997056,NP_997055,EAL24469,EAL24470,EAW94034,EAW94035,EAW94036,EAW94037,ABB72550,BAD18811,AAO85048,AAQ76966,AAQ76967,AAQ76968,AAQ76969,AAQ76970,AAQ76971,AAQ76972,AAX63744,AAX63745,AAX63746,AAI32694,AAI32696,Q6W5P4,Q86SP4 Hs.652373 ASRT2|GPR154|GPRA|NPSR|PGR14|VRR1 protein-coding 733531 NPTN neuroplastin Neuroplastin is a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. The alpha and beta transcripts show differential localization within the brain. 17196182,17123723,15489334,15340161,15146197,12477932,9110174,8995369,8619474 27020 NM_017455,NM_012428,AC022735,CH471082,AB209812,AF035287,AF109126,AF109127,AK129908,AL117411,BC030773,BC067828,BC105979,BC117462,CN357076,CR604231,CR615149,CR615564,CR936779 NP_059429,NP_036560,EAW77930,EAW77931,EAW77932,BAD93049,AAB88179,AAD43217,AAD43218,CAB55909,AAI05980,AAI17463,Q9UFM8,Q9Y499,Q9Y639 Hs.187866 DKFZp686L2477|GP55|GP65|MGC102805|SDFR1|SDR1|np55|np65 stromal cell derived factor receptor 1 protein-coding 1321571 NPTX1 neuronal pentraxin I NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. 1580863 8884281,17151277,16115696,15489334,14702039,12477932,10748068 4884 NM_002522,AC120024,CH471099,AI124625,AK124701,AK127335,AL119012,BC089441,BX537550,CK005561,U61849 NP_002513,EAW89617,AAH89441,AAC50727,Q15818 Hs.702002,Hs.706807 GDB:569012 DKFZp686J2446|MGC105123|NP1 protein-coding 1319794 NPTX2 neuronal pentraxin II 1580863 8530029,17895837,17408830,16115696,15489334,12853948,12690205,12477932,10748068,9261167 4885 AC074121,CH236956,CH471091,U29195,BC009924,BC034781,BC035339,BC048275,U26662,NM_002523 NP_002514,AAQ93363,EAL23889,EAW76705,AAA68980,AAH09924,AAH34781,AAH35339,AAH48275,AAA92296,P47972,ABM83978,ABM87299 Hs.3281 GDB:569013 NARP|NP-II|NP2 protein-coding 1607068 NPTXR neuronal pentraxin receptor This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. 1642301,1642302 16497176,16115696,12477932,10748068,10591208,9261167,9110174,8619474 1642301,1642302 23467 NM_014293,AL008583,CH471095,AF052163,AL161974,AL162057,BC043606 NP_055108,CAA15430,EAW60273,EAW60274,EAW60275,O95502,AAI48602,AAI53028 Hs.91622 GDB:9956598 NPR protein-coding 1350677 NPVF neuropeptide VF precursor 11025660,12853948,12690205,11951088,11481330,11173868,8889548 64111 NM_022150,AC004129,AF440393,AF440394,AF440395,CH236948,CH471073,AB040290,AF330057,AF440392,BM714303 NP_071433,AAP22339,AAL90458,EAL24237,EAW93830,BAB17674,AAK94201,AAL90453,Q9HCQ7 Hs.60473 C7orf9|RFRP chromosome 7 open reading frame 9 protein-coding 1605830 NPW neuropeptide W The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. 12401809,12959997,16847439,16394174,16273281,15797961,12719537,12477932,12130646,12118011,8889548 283869 NM_001099456,AC005606,AC093513,AB084276,AL365519,AL365521,BM985063,CK817957 NP_001092926,BAC07172,Q8N729,AAI60149 Hs.233533 L8|L8C|PPL8|PPNPW protein-coding 730830 NPY neuropeptide Y 1580177,1580179,1580182,1580183,1580184,1580178,1357412,1358535,1580863,1357410 1321422,8132547,2427515,10488139,8421707,10557353,2444979,18279562,18257117,18241322,18211417,18055304,18054939,18037100,11884208,11814620,11696660,11689216,11422604,11410744,11325787,11278902,11196643,10770181,10698177,10561544,9845072,9008359,9001438,7782078,7559383,6589611,3839058,3753985,1425680,18006403,16189514,15759545,15736042,15680469,15625769,15597110,15489334,15485137,15364898,15336593,15201542,15165988,15126561,14751436,14747236,14628185,12932169,12878188,12875921,12853948,12843176,12818415,12782203,12759898,12690205,12689610,12663466,12646110,12609745,12544000,12479530,12477932,12454738,12215082,12209475,12187924,12187394,12106685,12081635,11914038,12034130,12015205,12007534,11932939,18031993,17984244,17948870,17702963,17695723,17554476,17525122,17516289,17366345,17325259,17305733,17268419,17187020,17154253,17066479,16912140,16785149,16568137,16500360,16459651,16390370,16383010,16383009,16383001,16383000,16382999,16382997,16339211,16136022,16135994,15959845,15926114,15897713,15894681,15850450,15847953,15797951 1580177,1580179,1580182,1580183,1580184,1580178,1357412,1358535,1357410 4852 M14297,M14298,BC029497,K01911,M15789,NM_000905,AC004485,CH236948,CH471073,M14295,M14296 AAH29497,AAA59944,AAA59946,P01303,ABM84261,ABM87650,NP_000896,AAQ96843,EAL24248,EAW93807,AAA59945 Hs.1832 GDB:119456 PYY4 1643507,2289312,2289453 BW292_H,BW391_H,BW297_H protein-coding 1347163 NPY1R neuropeptide Y receptor Y1 Neuropeptide Y (NPY; MIM 162640) is one of the most abundant neuropeptides in the mammalian nervous system and exhibits a diverse range of important physiologic activities, including effects on psychomotor activity, food intake, regulation of central endocrine secretion, and potent vasoactive effects on the cardiovascular system. Two major subtypes of NPY (Y1 and Y2) have been defined by pharmacologic criteria. NPY receptors, such as NPY1R, have been identified in a variety of tissues, including brain, spleen, small intestine, kidney, testis, placenta, and aortic smooth muscle (Herzog et al., 1992 [PubMed 1321422]).[supplied by OMIM] 1580863,1357410,1642322,1642324,1642306,1642307,1642319,1642311,1642320,1642609 11741903,15231747,1321422,1317848,17948870,17325259,17140570,16891622,16339211,15623622,15597110,15489334,15302312,12665544,12477932,12220433,12209475,12203398,12084524,12007534,11906964,11814622,9001438,8095935,7559383,16189514 1357410,1642322,1642324,1642306,1642307,1642319,1642311,1642320,1642609 4886 AY548168,NM_000909,A26126,AC079238,CH471056,X99269,AB209237,BC036657,BC071720,L07614,L07615,M84755,M88461,A26481 NP_000900,CAA01787,EAX04841,BAD92474,AAS55647,AAH36657,AAH71720,AAA59947,AAA59920,AAA73215,P25929,Q59G72,CAA01819,ABM82191,ABM85379 Hs.519057 GDB:132643 NPYR 1643249,2289563 BW135_H,BW441_H protein-coding 1348310 NPY2R neuropeptide Y receptor Y2 1580863,1580787,1642609,1642379,1642381 8132547,1321422,7559383,9692752,7592910,17992642,17948870,17325259,17235527,17019604,16891622,16331299,15855352,15623622,15489334,15331560,12813010,12477932,12084524,12007534,11906964,11408607,9651375,9001438,8975716,8643460,8632753 1580787,1642609,1642379,1642381 4887 NM_000910,AC104407,AY236540,CH471056,U50146,U76254,BC075052,BC075053,U32500,U36269,U42389,U42766 NP_000901,AAY40940,AAO92062,EAX04901,AAC51115,AAD00248,AAH75052,AAH75053,AAA93170,AAC50281,AAB07760,AAB04120,P49146,Q4W5G7 Hs.37125 GDB:4365607 1643249,1643467,2289563 BW135_H,BW100_H,BW441_H protein-coding 731586 NPY5R neuropeptide Y receptor Y5 729324,1625494,1625501,1625503,1580863,1625506,1331525,1625492,1625493,1625496 8824284,17948870,17426313,17325259,16891622,15601626,15302312,12665544,12477932,12398768,12220433,12007534,10575027,9417917,9169127,8700207 729324,1625494,1625501,1625503,1625506,1331525,1625492,1625493,1625496 4889 U94320,NM_006174,AC079238,AY322538,CH471056,BC034224,BC042416,U56079,U66275 NP_006165,AAP84351,EAX04839,EAX04840,AAH42416,AAC50623,AAC50741,AAC51295,Q15761,Q6GTR7 Hs.519058,Hs.598503 GDB:5954125 NPYR5 1643249,2289563 BW135_H,BW441_H protein-coding 1345559 NPY6R neuropeptide Y receptor Y6 (pseudogene) 1580863 11027673,8910290,9013614,8910373 4888 NR_002713,AC106791,CH471062,D86519,U59431,U67780 EAW62180,BAA13103,Q99463 Hs.705777 GDB:5952621 NPY1RL|PP2|Y2B pseudo 735868 NQO1 NAD(P)H dehydrogenase, quinone 1 This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 727509,1580863,1300048 16284498,16266898,16235998,16235982,16172237,16170238,16157195,16079101,16054862,16039674,16038261,16006997,16003741,15938845,15838728,15829318,15808404,15781212,15767364,15763338,15749015,15748501,15747169,15746160,15734732,15731166,15727169,15714076,15694256,15661231,15640066,15618957,15590400,15498787,15489334,15466980,15385560,15382274,15370874,15365958,15355699,15352038,15334552,15312971,15298951,15280903,15279067,15226677,15219943,15196853,15184245,15151706,15138483,15116053,15111988,15079792,15061915,15028279,14985350,14729580,14720419,14716779,14694720,14688016,14675732,14669229,14634838,14634213,14592434,14568289,14506737,13130177,12960511,12867492,12854127,12834817,12777965,12771035,12718704,12718576,12713578,12711112,12694753,12529318,12480594,12477932,12468438,12460800,12439220,12419832,12417987,12397416,12393620,10393963,17118447,17113562,17082176,17027152,17011189,16985026,16978807,16818284,16775388,16702380,16620556,16610002,16598069,16595077,16532285,16520888,16413497,16385446,16369108,16343742,16341674,16321221,16297214,9579781,2843525,18457324,18444911,18444152,18413200,18407955,18393254,18253865,18225579,18218609,18214807,18203021,18156703,18091324,18074351,18061941,18061666,18034618,18024413,17901563,17885617,17869325,17726138,17652311,17644186,17619904,17603928,17581325,17575500,17541156,17507624,17496311,17476281,17469025,17449559,17428572,17424838,17405841,17400324,17395013,17378176,17372252,17367411,17363580,17337051,17332311,17332305,17188257,17179690,17178637,17166422,17164365,12393447,12383707,12370194,12232053,12172217,12171760,12171070,12164325,12163326,12037698,12036913,12018106,11967624,11956078,11948402,11943609,11895912,11894133,11888914,11840286,11821413,11810042,11774269,11773862,11766168,11722480,11701227,11688992,11679176,11551408,11520401,11319169,11219774,11051261,10706635,10543876,10487530,10447260,9373149,9230185,8125298,2071140,1737339,1657151,1340765,17119198 727509 1728 NM_001025434,NM_001025433,NM_000903,AC092115,AY281093,CH471092,M81600,AK223050,AV729122,BC000906,BC007659,BC107739,BE903613,BM052991,BM452267,BM787983,BM828301,CD014005,CR623236,J03934 NP_001020605,NP_001020604,NP_000894,AAP20940,EAW83282,EAW83283,EAW83284,AAB60701,BAD96770,AAH00906,AAH07659,AAI07740,AAA59940,P15559,Q0P6K1,Q3B792,Q53G81,ABM83818,ABM87138 Hs.406515 GDB:119849 DHQU|DIA4|DTD|NMOR1|NMORI|QR1 protein-coding 1351629 NQO2 NAD(P)H dehydrogenase, quinone 2 1580863 1691923,18336668,18314446,17332305,16545679,16191666,16189514,16129418,16025450,15993843,15694256,15489334,15451063,15350128,15078100,14702039,14639047,12960511,12477932,11809856,11688992,11051261,10471077,10433694,9367528,9050836,8182056,14617031 4835 NM_000904,AB050248,AL133351,AY299456,AY855291,CH471087,AK056981,BC006096,BI670476,CR600371,J02888 NP_000895,BAB16974,CAI23293,CAI23294,CAI23295,CAM28342,AAB60642,AAW29945,EAW55107,EAW55108,EAW55109,EAW55110,EAW55111,AAH06096,AAA60239,P16083,Q5TD04,Q5TD05 Hs.533050 GDB:128074 DHQV|DIA6|NMOR2|QR2 protein-coding 1350844 NR0B1 nuclear receptor subfamily 0, group B, member 1 This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 1580863 9384387,10848616,7990953,15100213,16709599,11875111,15464421,7990958,18381063,18038713,17646707,17573657,17308433,17114343,16834661,16713569,16684822,16645015,16275267,16232195,16206264,16146703,15988384,15879363,15841486,15800903,15589120,15489334,15379426,15084237,15044589,12843196,12771131,12727988,12636049,12629128,12519885,12482977,12477932,12213901,12213854,12083815,12034880,11788621,11748852,11738790,11713202,11549627,11459805,11443184,11113848,11053406,10713076,10675358,10599709,10522996,10412368,10361383,10341858,10323730,9529340,9486644,9415399,9360549,9063431,9003500,8855822,8675564,8636263,8593542,7951319,7677767,6891556,1505987,1301166,16189514 190 NM_000475,AC005185,AC005926,CH471074,S79548,U31929,BC011564,S74720 NP_000466,EAW99051,AAD14311,AAC13875,AAH11564,AAB32751,P51843,Q16392 Hs.268490 GDB:118982 AHC|AHCH|AHX|DAX-1|DAX1|DSS|GTD|HHG|NROB1 protein-coding 732873 NR0B2 nuclear receptor subfamily 0, group B, member 2 The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. 1600912,1580863 17686645,16709599,11030331,18325392,18307978,18234786,17910058,17646707,17522048,17289919,17145766,17094771,17074765,16825495,16803864,16762922,16710414,16282330,16123152,15973435,15723037,15489334,15459958,15358835,15317749,15314177,15292277,15269224,15202934,15123650,14762685,14752053,14672953,14627819,14593077,12842887,12716767,12716764,12477932,12324453,12198243,12181644,11890664,11861507,11735420,11705994,11696534,11668176,11136233,10648597,10594021,9773978,9603951,8650544,16189514,15707893 1600912 8431 NM_021969,AB058644,AF044316,AL356390,CH471059,L76571,AI457167,BC030207 NP_068804,BAB68530,EAX07781,AAC41998,AAH30207,Q15466 Hs.427055 GDB:3968002 SHP|SHP1 2289443,2289613 BW413_H,BW396_H protein-coding 731848 NR1D1 nuclear receptor subfamily 1, group D, member 1 1580863 1971514,8622974,18228528,18227153,18037887,18006707,17075855,16484495,15761026,15302935,15489334,15190009,15013753,14684825,12821652,12683943,12477932,12454280,12377782,12114512,12021280,11669620,9660968,9482666,8948627,2539258,1850510 9572 NM_021724,AC068669,CH471152,X95536,AY429554,BC047875,BC056148,CR598991,CR608219,M24898,M24900,M34339,M34340,X72631 NP_068370,EAW60636,AAH47875,AAH56148,AAA52335,AAA52332,AAA36561,AAA36562,CAB53540,P20393 Hs.724,Hs.592130 GDB:9957382 EAR1|THRA1|THRAL|ear-1|hRev protein-coding 737421 NR1D2 nuclear receptor subfamily 1, group D, member 2 1580863 7997240,15489334,12477932,11113208,10198169,9482666,8948627,7838156 9975 NM_005126,XM_001130839,AC124914,CH471055,BC015929,BC045613,BC070035,BX537786,CR457434,CR602304,D16815,L31785,AB209091 NP_005117,XP_001130839,EAW64340,EAW64341,AAH15929,AAH45613,AAH70035,CAG33715,BAA20088,AAA65937,Q14995,Q59GL8,Q6I9S1,Q6NSM0,Q96B66,BAD92328 Hs.37288 GDB:9958542 BD73|EAR-1r|HZF2|Hs.37288|RVR protein-coding 1352469 NR1H2 nuclear receptor subfamily 1, group H, member 2 The LX receptors (LXRs) were originally identified as orphan members of the nuclear receptor superfamily because their ligands were unknown. Like other receptors in the family, LXRs heterodimerize with retinoid X receptor (see MIM 180245) and bind to specific response elements (LXREs) characterized by direct repeats separated by 4 nucleotides. Two genes, alpha (LXRA, MIM 602423) and beta, are known to encode LXR proteins (Song et al., 1995 [PubMed 7625741]).[supplied by OMIM] 61674,1626248,1580863 12393874,18221307,18182682,18081155,17900622,17845217,17766241,17626048,17405904,17396233,17391100,17218271,17135302,17110595,17108812,17045963,16973760,16904112,16567856,16524875,16482468,16354658,16344560,16298468,15548517,15539633,15489334,14702039,14699103,14643652,12957674,12819202,12736258,12477932,12198243,12040022,11546778,10187832,9874807,7971966,7926814,7782080,7760852,7625741,11158331,16189514,15764585 61674,1626248 7376 U14534,NM_007121,AC008655,CH471135,AK091535,AK290855,AL598714,BC007790,BC033500,BC047750,BC074500,CA414979,CR456706,CR592437,CR598123,CR598124,CR603617,CR604070,CR609885,CR610600,CR614375,CR617823,CR749648,DA053472,U07132 AAA58594,P55055,Q68CY8,Q6IBU6,ABM81580,NP_009052,EAW71850,EAW71851,EAW71852,EAW71853,EAW71854,EAW71855,BAF83544,AAH07790,AAH33500,AAH47750,AAH74500,CAG32987,CAH18442,AAA61783 Hs.432976 GDB:389570 LXR-b|LXRB|NER|NER-I|RIP15|UNR 2289232 BW89_H protein-coding 733364 NR1H3 nuclear receptor subfamily 1, group H, member 3 1580788,1580863,1626248 12040021,7744246,18327405,18250151,18209740,18182682,18096827,18024509,18007013,17960176,17845217,17766241,17644777,17628006,17452725,17416342,17405904,17396233,17391100,17296605,17272748,17255360,17218271,17217555,17135302,17110595,17108812,16973760,16956579,16941683,16920108,16904112,16758300,16567856,16482468,12054659,12032151,11875109,11149950,11135616,11035776,10022764,9630215,9231657,9013544,8621574,16189514,15615782,12117567,16354658,16249184,16170053,16106051,16054077,15625283,15548517,15539633,15489334,15353176,15319359,14702039,14699103,12957674,12932788,12477932,12470296,12198243,12161442 1580788,1626248 10062 NM_005693,AC018410,CH471064,AK122661,AK290614,BC008819,BC041172,BT019411,CR596655,CR606496,CR607396,CR607859,CR615123,CR618031,CR619974,U22662 NP_005684,EAW67942,EAW67943,EAW67944,EAW67945,EAW67946,EAW67947,EAW67948,EAW67949,BAF83303,AAH08819,AAH41172,AAV38218,AAA85856,Q13133,Q5U0N9,Q8IW13 Hs.438863 GDB:9954951 LXR-a|LXRA|RLD-1 protein-coding 734103 NR1H4 nuclear receptor subfamily 1, group H, member 4 729010,1580983,1580984,1625076,1625080,1625205,1625202,1580863 12917342,10334992,9223286,10334993,18029909,17988216,17931734,17876519,17681172,17519356,17507182,17495603,17272748,17241392,17071613,17054793,17047076,16778009,16494845,16460270,16423920,16269519,16251721,16197915,16037943,16012168,15817812,15721319,14527955,15604525,15590640,15576845,15564327,15471871,15454728,15342685,15317749,15202934,15187081,14990788,14988830,14729567,14684751,12891557,12815072,12806625,12761213,12754200,12660231,12554753,12477932,12062799,12004058,11733517,11136553,7774010,7760852 729010,1580983,1580984,1625076,1625080,1625205,1625202 9971 AC010200,NM_005123,CH471054,AF384555,AF478445,AF478446,BC035654,BC071778,BC130573,BX571749,U68233 NP_005114,EAW97638,EAW97639,EAW97640,AAK60271,AAM53550,AAM53551,AAH71778,AAI30574,CAE11874,AAB08107,Q6IPQ7,Q7Z2W0,Q96RI1 Hs.282735 GDB:9958537 BAR|FXR|HRR-1|HRR1|MGC163445|RIP14 protein-coding 2289770 NR1H5P nuclear receptor subfamily 1, group H, member 5 pseudogene 18065488,15229292,12529392 643609 NG_007471,AL358372 Fxrb|NR1H5 pseudo 69105 NR1I2 nuclear receptor subfamily 1, group I, member 2 This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. 1580863 16606623,16556603,16507781,16472590,16452398,16297466,16085054,15985196,15933212,15919766,15772695,15713537,15690482,15630458,15618712,15535420,15489334,15322103,15316010,15252010,14977870,14977869,12920130,12909012,12760308,12644700,12606758,12569201,12485946,12477932,12413960,12397176,12072427,11865669,11668216,11408620,11297522,10473093,9770465,9727070,11891224,9784494,18391510,18381611,18305375,18305370,18294295,18220558,18192894,18095058,18056193,17962194,17925385,17924830,17876342,17828778,17827782,17764444,17761971,17712488,17635106,17576789,17573484,17526937,17507630,17438109,17436120,17429319,17418145,17404718,17327420,17279585,17262809,17050801,17048007,17028159,16973756,16952547,16857725,16841097,16837625,16834332,16831602,16691293,16608838,9489701,9373149,8125298,16189514 8856 NM_003889,NM_033013,NM_022002,AC069444,AF364606,AY007189,CH471052,DQ911122,AF061056,AF084644,AF084645,AJ009936,AJ009937,AK122990,AK223456,AY091855,BC017304 NP_003880,NP_148934,NP_071285,AAK38720,AAK38721,AAK38722,AAG23345,EAW79537,EAW79538,EAW79539,ABJ52965,AAD05436,AAC64557,AAC64558,CAB55489,CAB55490,CAB55491,CAB55492,CAB55493,CAB55494,AAM26736,AAH17304,O75469,Q53F33,Q9H4M8 Hs.7303 GDB:9958862 BXR|ONR1|PAR|PAR1|PAR2|PARq|PRR|PXR|SAR|SXR nuclear receptor subfamily 1, group 1, member 2 protein-coding 1344163 NR1I3 nuclear receptor subfamily 1, group I, member 3 This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 9783588,16554032,8020947,8114692,18331826,18305370,18294295,18202305,18154449,18056193,17962186,17888866,17876342,17596880,17576804,17464991,17276571,15933212,15919766,15831521,15618763,15610735,15572376,15563456,15489334,15382119,15272053,15252010,15194709,15151997,14567971,12896978,12799447,12644704,12644700,12611900,12551939,12511605,12485946,12477932,12376703,12181452,12130689,12114525,11891224,9773978,9295294,8650544,8603043 9970 NM_001077478,NM_001077469,NM_005122,AL590714,CH471121,AA918394,AY572806,AY572807,AY572808,AY572809,AY572810,AY572811,AY572812,AY572813,AY572814,AY572815,AY572816,AY572817,AY572818,AY572819,AY572820,AY572821,AY572822,AY572823,AY572824,AY572825,AY572826,AY572827,BC030972,BC069626,BC069651,NM_001077475,NM_001077473,NM_001077472,NM_001077476,NM_001077479,NM_001077477,NM_001077481,NM_001077471,NM_001077474,NM_001077482,NM_001077480,NM_001077470,BC121120,BC121121,CB124867,DQ022681 NP_001070946,NP_001070937,NP_005113,CAH72153,CAH72154,EAW52608,EAW52609,EAW52610,AAT47159,AAT47160,AAT47161,AAT47162,AAT47163,AAT47164,AAT47165,AAT47166,AAT47167,AAT47168,AAT47169,AAT47170,AAT47171,AAT47172,AAT47173,AAT47174,AAT47175,AAT47176,AAT47177,AAT47178,AAT47179,AAT47180,AAH69626,AAH69651,NP_001070948,NP_001070938,NP_001070943,NP_001070941,NP_001070940,NP_001070944,NP_001070947,NP_001070945,NP_001070949,NP_001070939,NP_001070942,NP_001070950,AAI21121,AAI21122,AAY56401,Q0VAC9,Q14994,Q4U0F0,Q5VTW5,Q5VTW6,Q6GZ68,Q6GZ69,Q6GZ70,Q6GZ72,Q6GZ74,Q6GZ75,Q6GZ76,Q6GZ77,Q6GZ78,Q6GZ79,Q6GZ81,Q6GZ82,Q6GZ83,Q6GZ84,Q6GZ85,Q6GZ87,Q6GZ88,Q6GZ89,Q6NSZ5 Hs.349642 GDB:9958718 CAR|CAR1|MB67|MGC150433|MGC97144|MGC97209 protein-coding 1347339 NR1I4 nuclear receptor subfamily 1, group I, member 4 22817 GDB:9957155 1344559 NR2C1 nuclear receptor subfamily 2, group C, member 1 This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined. 1580863 2597158,17010934,16344560,14521922,12949936,12943985,12615366,12477932,12361719,12093804,12093744,11463856,9795341,9737983,9704569,3421977,9774688 7181 NM_003297,NM_001032287,AC011598,CH471054,AK291319,BC026074,BC040141,BE676699,CR590188,DB266298,M21985,M29959,M29960 NP_003288,NP_001027458,EAW97517,EAW97518,EAW97519,EAW97520,BAF84008,AAH40141,AAA36650,AAA36762,AAA36761,P13056,Q15625,Q15626 Hs.108301,Hs.707524 GDB:5875387 TR2 protein-coding 1353162 NR2C2 nuclear receptor subfamily 2, group C, member 2 Members of the nuclear hormone receptor family, such as NR2C2, act as ligand-activated transcription factors. The proteins have an N-terminal transactivation domain, a central DNA-binding domain with 2 zinc fingers, and a ligand-binding domain at the C terminus. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes (Yoshikawa et al., 1996 [PubMed 8661150]).[supplied by OMIM] 69908,634394,1580863 9006963,14743216,14702039,14633987,12615366,12547194,12522137,12486131,12477932,12093744,11844790,11585904,10611280,9737983,8661150,8016112,7708055,12943985,11509567,14670075 69908,634394 7182 NM_003298,AC090937,AC090954,CH471055,AK091226,AK094590,AK290590,BC030715,BC051670,BF307171,CA430806,CR614431,L27586 NP_003289,EAW64213,EAW64214,EAW64215,BAF83279,AAH51670,AAA21474,P49116,Q6PHZ7 Hs.591667 GDB:9837396 TAK1|TR2R1|TR4|hTAK1 protein-coding 1606467 NR2C2AP nuclear receptor 2C2-associated protein 12477932,17054912,15381082,12486131 126382 NM_176880,NG_007432,AC003110,AY101377,BC057837,CF993811,CR594611 NP_795361,AAM48286,AAH57837,Q86WQ0 Hs.708153 TRA16 protein-coding 1346337 NR2E1 nuclear receptor subfamily 2, group E, member 1 1580863 18205168,17873065,17655765,17054721,16000615,15489334,14574404,12477932,12079282,11073974,8047143,9628820 7101 NM_003269,AL078596,CH471051,AF220532,AF411525,AK131541,BC028031,Y13276 NP_003260,CAB75626,EAW48385,EAW48386,AAG31945,AAL05871,BAD18677,AAH28031,CAA73725,Q6ZMP8,Q9Y466 Hs.157688 GDB:9849004 TLL|TLX|XTLL protein-coding 1351565 NR2E3 nuclear receptor subfamily 2, group E, member 3 This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 10220376,18294254,17982421,17564971,17081983,16225923,15689355,15634773,15459973,15277507,15190009,12963616,12477932,11773633,11487564,11071390,10965145,10655056,10611353 10002 NM_014249,NM_016346,AC104938,AF121130,AJ276674,CH471082,AF121129,AF148128,BC041421 NP_055064,NP_057430,AAD28302,CAB82769,EAW77876,EAW77877,AAD28301,AAF22227,AAH41421,Q8IVZ9,Q9UNH8,Q9Y5X4 Hs.187354 GDB:9954869 ESCS|MGC49976|PNR|RNR|rd7 protein-coding 732429 NR2F1 nuclear receptor subfamily 2, group F, member 1 1580863 8530078,2739739,18199540,17009409,15489334,15157742,12972613,12551987,12477932,12093745,11934895,11811951,11043578,10744719,10656770,10652338,10644726,10620335,10207062,9388268,8798567,2905047,1517211,1331778,1311101 7025 NM_005654,AC106818,CH471084,X12795,BC004154,BC017493,X16155 NP_005645,EAW96008,EAW96009,CAA31283,AAH04154,AAH17493,CAA34277,P10589 Hs.519445 GDB:511226 COUP-TFI|EAR-3|EAR3|ERBAL3|NR2F2|SVP44|TCFCOUP1|TFCOUP1 protein-coding 735361 NR2F2 nuclear receptor subfamily 2, group F, member 2 1580863 8530078,1899293,18199540,17455195,15666827,15611122,15489334,15265774,15231748,12843196,12614160,12477932,10744719,10704340,10318855,9826778,9343308,9115274,8910285,1820218,1312668 7026 AC016251,CH471101,U60477,BC014664,BC033957,BC034585,BC042897,BC106083,CR601286,M62760,M64497,NM_021005 NP_066285,EAX02195,EAX02196,EAX02197,EAX02198,AAB09475,AAH14664,AAH42897,AAI06084,AAA21479,AAA86429,P24468,Q3KQR7 Hs.701977 GDB:511233 ARP1|COUP-TFII|COUPTFB|MGC117452|SVP40|TFCOUP2 protein-coding 733507 NR2F6 nuclear receptor subfamily 2, group F, member 6 1580863 2905047,15489334,15302935,12690040,12477932,10713182,10644740,10318855,9226381 2063 NM_005234,AC010646,CH471106,X12794,BC002669,BC063018,BC084544,CR597276 NP_005225,EAW84580,CAA31282,AAH02669,AAH63018,AAH84544,P10588 Hs.466148 GDB:119878 EAR-2|EAR2|ERBAL2 protein-coding 732227 NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) The protein encoded by this gene is a receptor for glucocorticoids that can act as both a transcription factor and as a regulator of other transcription factors. This protein can also be found in heteromeric cytoplasmic complexes along with heat shock factors and immunophilins. The protein is typically found in the cytoplasm until it binds a ligand, which induces transport into the nucleus. Mutations in this gene are a cause of glucocorticoid resistance, or cortisol, resistance. Alternate splicing, the use of at least three different promoters, and alternate translation initiation sites result in several transcript variants encoding the same protein or different isoforms, but the full-length nature of some variants has not been determined. 61055,1580790,1331525,1580863,1601498 8621628,9079630,10364267,11266503,12773562,7769088,10903900,9873044,10887960,18396779,18385010,18362306,18343955,17242172,17242171,17239375,17236775,17186943,17185395,17184882,17167179,17133261,17116691,17070695,17065567,17043312,16980656,16973758,16971495,16914312,16895953,16890204,16855182,16849409,16809634,16806906,16806572,16740143,16728546,16725041,16684836,18331827,18286599,18269582,18248637,18246526,18219286,18195193,18194492,18182467,18160712,18156379,18096310,18086889,18047640,18028994,17989362,17952860,17951535,17937535,17853270,17848410,17716631,17704997,17682054,17681029,17635946,17602195,17592773,17572486,17563720,17559307,17556642,17540466,17535992,17532759,17522428,17517920,17512111,17496926,17490654,17460547,17438138,17407502,17404046,17395275,17392827,17382897,15292341,15289446,15276593,15265776,15212141,15171715,15159550,15062560,15044598,14764810,14764763,14749509,14733805,14715855,14634838,14617768,14616881,14522952,14521715,12974633,12933681,12920235,12917342,12903052,12902338,12864802,12843156,12810720,12807506,12805402,12787894,12773573,12754700,12748280,12738786,12730237,12711001,12686538,12642036,12637494,12634356,12623935,12612067,12581885,12569182,12487626,12477932,12477485,12466272,12444143,12430185,12415108,12379213,12351702,12351458,12237292,12237016,12225995,12208951,12193561,12151000,12145329,12144530,12118039,12114309,12114257,12099703,12093808,12050230,12039962,12039077,12011091,12000743,11996936,11983486,11971959,11932321,11873873,11818365,11812797,11751894,11739747,11711524,11710540,11708406,11701741,11689055,11673782,11589680,17291258,16676134,16648810,16638864,16636127,16624805,16621324,16615046,16610957,16610949,16580345,16469772,16458268,16450310,16387802,16319314,16263717,16239257,16236267,16222046,16216909,16204701,16192984,16189295,16134770,16131566,16083972,15956716,15955845,15941832,15933212,15919839,15916966,15895983,15879558,15866175,15862824,15826950,15797250,15784617,15774500,15770078,15769988,15761032,15755863,15746190,15713213,15698551,15611350,15591061,15590693,15576464,15576061,15557560,15550679,15545613,15531761,15521959,15511603,15501915,15497438,15489334,15462611,15459252,15372022,11571596,11562347,11555652,11463861,11435610,11358960,11344238,11287026,11279115,11250851,11238589,11229437,11162542,11158330,11154266,11152650,11146632,11119758,11101523,11096094,11080152,11027313,11005817,10995388,10933727,10903152,10902803,10898924,10866662,10848625,10784585,10713182,10713165,10691735,10688647,10639135,10601862,10567404,10566686,10518526,10508170,10490647,10480874,10477749,10430878,10391209,10359081,10187825,10085091,10066374,9928932,9915858,9874563,9817600,9742105,9703718,9649342,9637764,9603979,9590696,9584182,9528750,9482670,9435432,9426156,9388192,9373149,9353307,9348235,9334723,9334248,9261129,9199329,9195923,9162033,9154805,9150737,9148915,9115274,9089287,9038175,8898375,8878484,8863343,8800208,8733011,8645634,8621522,8530516,8449898,8445027,8358735,8358712,8349631,8341706,8316249,8290595,8288028,8269959,8223438,8157642,8125298,8107808,8051160,7887964,7873448,7823959,7724608,7683692,7659084,7621901,7295795,7264103,7254211,6621034,6509026,3841189,3597702,2867473,2793174,2026589,2019585,1958537,1865905,1707881,1704018,1612132,1562545,1469072,1152650,15832179,15725353,15638722,15265780,15142377,16429131,15380361,16189514,12595526,12874288,12864730,12361945,14966297,10948677,9215863,11704662 61055,1580790,1331525,1601498 2908 X03348,M69104,M73050,M73816,S68378,U80946,U80947,AJ877166,AJ877167,AJ877168,AJ877169,AJ877170,AJ877171,AJ877172,AJ888004,AK223594,AM183262,BC015610,BF966114,BX640610,BX648553,U01351,X03225,NM_001018077,NM_001018074,NM_001018075,NM_001018076,NM_001024094,NM_000176,NM_001020825,AC004782,AC005601,AC091925,AF304129,AF395116,AY436590,CH471062 CAA27054,P04150,Q3MSN1,Q3MSN4,ABZ92006,CAA26976,AAA88049,AAA53151,AAB20466,AAB64353,AAB64354,CAI46893,CAI46894,CAI46895,CAI46896,CAI46897,CAI46898,CAI46899,CAI59612,BAD97314,CAJ65924,AAH15610,CAE45716,AAA16603,NP_001018087,NP_001018084,NP_001018085,NP_001018086,NP_001019265,NP_000167,NP_001018661,AAC34207,AAQ97180,EAW61870,EAW61871,EAW61872,EAW61873 Hs.122926 GDB:120017 GCCR|GCR|GR|GRL nuclear receptor subfamily 3, group c, member 1 2289514,2289517 BW456_H,BW455_H protein-coding 1347970 NR3C1P nuclear receptor subfamily 3, group C, member 1 pseudogene 2867473 2910 733363 NR3C2 nuclear receptor subfamily 3, group C, member 2 1600927,1600930,1580863 11518808,9662404,3037703,18443236,18184651,18182467,17724138,17703341,17675581,17670905,17334527,17314004,17311890,17287415,17133261,17105732,17018659,16972228,16964418,16954160,16516149,16446868,16344560,16275882,16145013,16061183,15967794,15939817,15908963,15882548,15824464,15761031,15761029,10691735,10391210,9724527,9392437,9141514,9115274,8612804,7495694,2558856,2162806,1655735,1134129,15737989,15718497,15713533,15666800,15192075,15171715,15126537,15120696,15117605,15080790,14617569,14500761,12788847,12679457,12544508,12538613,12483305,12477932,12125101,12015312,11960770,11711524,11675945,11350956,11344206,11154266,11134129,10936692,10935545,10884226,10760050 1600927,1600930 4306 NM_000901,AC069272,AC093678,AC093881,AC104691,AC106889,AF068616,AF068617,AF068618,AF068619,AF068620,AF068621,AF068622,AF068623,CH471056,EU326312,AB209056,AJ315514,AJ315515,BC111758,DB061545,M16801 NP_000892,AAY41033,AAC63513,EAX05008,ACA05923,ACA05926,BAD92293,CAC67405,CAC67406,AAI11759,AAA59571,P08235,Q2NKL1,Q4W5E8,Q59GQ3 Hs.163924 GDB:120188 MCR|MGC133092|MLR|MR protein-coding 732751 NR4A1 nuclear receptor subfamily 4, group A, member 1 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. Expression is induced by phytohemagglutinin in human lymphocytes and by serum stimulation of arrested fibroblasts. The encoded protein acts as a nuclear transcription factor. Translocation of the protein from the nucleus to mitochondria induces apoptosis. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 2626032,18248459,18079734,18073527,17761950,17709892,17543302,17543277,17515897,17434920,17297306,17139261,17023523,16904076,16873729,16723716,16713569,16595694,16480977,16467267,16434970,16264271,16223362,16082387,15964844,15871945,15625237,15591535,15509776,15498889,15494375,15489334,15486232,15466594,15459248,15385570,15292355,15208301,15159280,15033715,14980220,14769794,14729605,14702039,14678255,14612408,14592536,14525795,14500374,12947120,12842839,12506026,12477932,12376465,12153396,12082103,12046067,12032831,11983153,11883936,11700033,11559707,11274386,10947977,10777386,8227042,7890657,2555161,2283997,1651101,14751250,16189514 3164 NM_002135,NM_173157,AC025259,CH471111,U17590,AK075054,AK075491,AK096816,AK131566,AL702926,AL831844,BC016147,BT007144,CR456704,CR590328,D49728,D85245,L13740 NP_002126,NP_775180,EAW58222,EAW58223,EAW58224,EAW58225,EAW58226,EAW58227,EAW58228,BAD18699,CAD38550,AAH16147,AAP35808,CAG32985,BAA08565,BAA12746,AAA36763,P22736,Q15627,Q53Y00,Q6IBU8,Q6ZMM6,Q8N3V2,ABM82060,ABM85239 Hs.524430 GDB:125357 GFRP1|HMR|MGC9485|N10|NAK-1|NGFIB|NP10|NUR77|TR3 immediate early gene transcription factor ngfi-b protein-coding 732028 NR4A2 nuclear receptor subfamily 4, group A, member 2 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1358553,1580863 7877627,18242186,18195715,18057194,17728669,17709391,17681692,17671512,17574328,17427185,17283078,17081983,17032747,16977628,16873729,16806233,16532445,16477036,16344560,16320253,16293616,15964844,15635701,15635645,15548686,15489334,15486232,15450088,15390059,15292355,15276233,15211629,15197702,15184637,15018843,14988426,14671317,14559918,14525795,12875905,12852843,12827450,12815740,12774125,12756136,12694388,12627459,12564761,12496759,12477932,11959923,11914402,11884470,11840500,11803525,10216262,10216261,9373149,8125298,7758108,7706727,7705655,16189514,15961999 1358553 4929 AB019433,AC074099,CH471058,NM_006186,NM_173171,NM_173172,NM_173173,AB017586,AK223625,AK291456,BC009288,BC066890,BM922519,DA093733,S77154,X75918 BAA77328,AAY24203,EAX11454,NP_006177,NP_775263,NP_775264,NP_775265,BAA75666,EAX11455,BAD97345,BAF84145,AAH09288,AAH66890,AAB33999,CAA53518,P43354,Q53EL4,Q53RZ2,Q6NXU0 Hs.563344 GDB:624567 HZF-3|NOT|NURR1|RNR1|TINUR protein-coding 1348747 NR4A3 nuclear receptor subfamily 4, group A, member 3 This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Four transcript variants encoding three distinct isoforms have been identified for this gene. 1580863 9573341,8570200,8634690,17981763,17596136,17515897,16945922,16873729,15964844,15949808,15523651,15262426,15164053,14962944,14525795,12543801,11173923,11156374,10602519,10359536,8809112,8614405,7811288 8013 AL358937,AL359710,CH471105,AK226108,BX649089,D78579,D85241,D85242,S81243,U12767,X89894,NM_006981,NM_173198,NM_173199,NM_173200 NP_775292,CAI95320,CAI95138,CAI95139,EAW58915,EAW58916,EAW58917,EAW58918,CAH10551,BAA11419,BAA28608,BAA31221,AAB36006,AAB02581,CAA61984,Q4VXA8,Q6AW80,Q92570,NP_008912,NP_775290,NP_775291 Hs.279522 GDB:9958805 CHN|CSMF|MINOR|NOR1|TEC protein-coding 68493 NR5A1 nuclear receptor subfamily 5, group A, member 1 The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. 1598967,1580863 10567391,16709599,8205615,7479914,10369247,9590178,18182853,17975261,17940071,17786540,17761949,17694559,17664281,17520059,17519303,17488792,17331471,17226773,16887917,16834661,16816804,16684822,16595694,16564598,16500365,16469813,16127213,15897460,15879363,15831526,15707893,15666825,15579738,15546904,15489334,15471945,15388788,15379426,15261303,15192080,15044589,14702039,14623279,14580722,14555713,12920234,12907682,12843196,12782406,12732652,12730328,12727988,12651892,12554773,12477932,12161505,12101186,12083815,12083805,11932325,11932209,11897684,11886523,11738790,11592817,11574675,11518799,11479297,11459805,11071856,11038323,10919277,10684809,10478848,10446911,10369682,10230405,9774680,9328345,9238716,9183568,9002548,8964846,8806624,7789992,7629233,16189514,12861022 1598967 2516 NM_004959,AB009577,AL137846,AL354979,AY542548,CH471090,D88155,U32592,AK090858,BC032501,U76388 NP_004950,BAB18655,CAI10871,CAI10872,CAI10957,CAI10958,CAI10959,AAS48621,EAW87591,BAA13546,AAA75332,BAC03532,AAH32501,AAB53105,Q13285,Q5T6F5,Q5T6F6,Q5T6F7,Q6QGY2,Q8N2B7,Q9H3V4,Q9UCY6,ABZ92004 Hs.495108 GDB:347948 AD4BP|ELP|FTZ1|FTZF1|SF-1|SF1 protein-coding 68499 NR5A2 nuclear receptor subfamily 5, group A, member 2 1580863 15923626,15897460,15723037,15707893,15613430,15218078,15205472,15181096,15143151,15121760,15117876,14728801,14671206,12972592,12853459,12852843,12820970,12477932,12208674,11927588,11668176,11595170,11564608,11030332,10359768,9858833,15963945,8938589,7680097,9786908,12040021,16289203,18191017,17977826,17910058,17522048,17095585,16469397,16450584,16439367,16282330,16091743,15327767 2494 NM_205860,NM_003822,AC096633,AF190464,AF319643,CH471067,AB019246,AF049102,AF112344,AF124247,AF146343,AF228413,BC027893,BC118571,BC118652,CA776772,CB162803,U80251,U93553 NP_995582,NP_003813,AAG17124,AAG17125,AAL37171,EAW91305,EAW91306,EAW91307,EAW91308,BAA34092,AAD03248,AAD26565,AAD37378,AAI18572,AAI18653,AAC78727,AAD03155,O00482,O60587,Q147U3,Q8WY08,Q9UEC0,Q9Y5V6 Hs.33446 GDB:9837397 B1F|B1F2|CPF|FTF|FTZ-F1|FTZ-F1beta|LRH-1|hB1F|hB1F-2 protein-coding 1345014 NR6A1 nuclear receptor subfamily 6, group A, member 1 This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. The gene expresses at least alternatively spliced transcript variants. 1580863 7835709,9099702,8982251,9134503,15489334,15456763,12606326,12477932,12381721,12080054,11969338,11387038,10940306,10524192,9858592,9846950,9537518,9177477 2649 NM_033334,NM_001489,AL158075,AL354928,AL354979,AL669818,CH471090,AF004291,BC030600,BC042395,BC042406,S83309,U80802 NP_201591,NP_001480,CAI39633,CAI10960,EAW87593,EAW87594,EAW87595,AAC52054,AAH30600,AAB50876,AAB96828,Q15406 Hs.586460 GDB:6837713 GCNF|GCNF1|NR61|RTR protein-coding 1315517 NRAP nebulin-related anchoring protein 9339382,16381901,15967462,15489336,15489334,15164054,14702039,12789664,12477932,11230166,10320340,9295142,11076863,8681137 4892 AL831980,AK096875,AL832025,AL832330,AL832457,AY081943,AY177620,AY177621,BC005933,BC017866,BC058825,BC070130,BC126407,BX640682,BX640730,BX641052,BX647658,F30818,AK096886,NM_198060,AL390197,CH471066,U96486,AF542553,AK056605,AK056969,NM_006175 BAC04884,Q0JSV7,Q0JTD8,Q0JVE0,Q86VF7,Q96MQ3,CAL37520,CAL38225,CAL38407,CAL38670,CAD89899,CAD89910,CAD38623,CAD89998,AAL99185,AAO47073,AAO47074,AAH05933,AAH17866,AAH58825,AAH70130,AAI26408,CAE45811,CAE45846,CAE46027,A0AVL2,Q05D68,Q0JS44,NP_006166,NP_932326,CAH71109,CAH71110,CAH71111,EAW49499,EAW49500,EAW49501,EAW49502,EAW49503,EAW49504,AAC51786,AAQ09536,BAB71231,BAB71328 Hs.268788 GDB:6053861 protein-coding 1604888 NRARP Notch-regulated ankyrin repeat protein 12477932 441478 NM_001004354,BX255925,CH471090,BC053618 NP_001004354,EAW88380,AAH53618,Q7Z6K4 Hs.535075 MGC61598 protein-coding 735648 NRAS neuroblastoma RAS viral (v-ras) oncogene homolog This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated to a GTP-bound form by a GTPase activating protein and inactivated to a GDP-bound form by a guanine nucleotide-exchange factor. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). 1580863 11520933,7972015,8493579,9069260,9690470,18450602,18316589,18316586,18310288,18227705,18008004,18006851,18000091,17960171,17949898,17943694,17910045,17900235,17893876,17786355,17712732,17671710,17550846,17517660,17507627,17332249,17297468,17119447,17036375,16845322,16761621,16573741,16462768,16344560,16142319,16135812,16098042,16076867,16000296,15761153,15705808,15688405,15674343,15531466,15489334,15474158,15060167,14961576,14737077,14695152,14688017,12783933,16847854,12727991,12637339,12483530,12477932,12393454,12230495,12082607,11948427,11524732,11332726,10918068,10783161,10655059,10490827,10412982,9674433,9578425,9488663,8665852,8607982,8280380,7820549,7789166,6616621,6587382,6086315,3887133,3856237,3295562,3276402,3102434,3057505,2998510,2991860,2661017,1970154,1692298,9344703,9269777,12808105 4893 S68580,X00642,X00643,X00644,X00645,X05564,X05565,X07440,X53291,AF493919,BC005219,BT019734,BT019735,CR595772,CR596134,CR598435,CR615916,DA007844,X02751,M25898,NM_002524,NG_007572,AL096773,AY428630,CH471122,EU332857,K03211,L00043 AAA36548,AAB29639,CAA25269,CAA25270,CAA25271,CAA25272,CAA29078,CAA29079,CAA30320,CAA37384,AAM12633,AAH05219,AAV38539,AAV38540,CAA26529,Q5U091,Q9UM97,P01111,NP_002515,CAI18827,AAQ94397,EAW56608,EAW56609,EAW56610,EAW56611,ABY87546,AAA36556,AAA60255 Hs.486502 GDB:119457 ALPS4|N-ras|NRAS1 protein-coding 1346110 NRBF2 nuclear receptor binding factor 2 61677,1580863 15610520,15489334,14702039,12477932,11256614,11230166,10786636,9373149,8125298,7566098,16189514 61677 29982 NM_030759,AL590502,CH471083,AF267866,AK054957,AK225256,AK225257,AL136656,AU310836,AY267839,AY267840,BC001345,BC011707,CR603566,CR607933,CR613482,CR615835 NP_110386,EAW54240,EAW54241,AAG44735,BAB70833,CAB66591,AAP03081,AAP03082,AAH11707,Q96F24 Hs.449628 COPR1|COPR2|DKFZp564C1664|FLJ30395|NRBF-2 protein-coding 1354113 NRBP1 nuclear receptor binding protein 1 11956649,15084397,17353931,17052710,16964243,16189514,15815621,15489334,15345747,14702039,12477932,12176995,11230166,10843813,9373149,8125298,1048605 29959 NM_013392,AC074117,CH471053,AF113249,AK001946,AK027538,AK092860,AK122664,AK130619,AK223136,AK225540,AL136682,BC001221,BQ225378,BQ949042,CR591118,CR604477,CR617536,CR625057 NP_037524,AAY14847,EAX00578,EAX00579,EAX00580,AAF21967,BAA91993,BAB55185,BAD96856,CAB66617,AAH01221,Q9UHY1,ABM86741,ABW03817 Hs.515876 GDB:10796044 BCON3|FLJ27109|FLJ35541|MADM|MUDPNP|NRBP nuclear receptor binding protein protein-coding 1351329 NRBP2 nuclear receptor binding protein 2 15498874,15489334,14702039,12477932 340371 NM_178564,AC105049,CH471162,AF318376,AK094017,AL137662,AL834530,AY277601,BC037396,BC071605,BC113873,BC114481,CR457350 NP_848659,EAW82178,EAW82179,EAW82180,EAW82181,EAW82182,EAW82183,AAL55883,CAB70864,CAD39186,AAQ18040,AAI13874,CAG33631,Q9NSY0 Hs.699329 DKFZp434P086|MGC138699|TRG16|pp9320 protein-coding 731343 NRCAM neuronal cell adhesion molecule Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 14602817,11483367,8812479,17667921,17106428,16335952,16123759,15523497,15128462,14702039,12853948,12477932,12421765,12183361,12139915,12045112,11866539,11724816,11449000,9604207,9321706,9205841,9049255 4897 BX538010,BX954399,NM_005010,NM_001037132,NM_001037133,AC005058,AC005683,AC007567,AF172277,CH236947,CH471070,U55258,AB002341,AI031622,AJ001054,AJ001057,AK092330,AK127035,AY528240,BC098401,BC114570,BC115736 CAD97960,Q14BM2,Q14CA1,Q4KMQ7,Q6QRP2,Q75ML9,Q92823,NP_005001,NP_001032209,NP_001032210,AAS07434,AAF22282,AAF22283,EAL24386,EAW83427,EAW83428,EAW83429,EAW83430,AAC50765,BAA20801,CAA04504,CAA04507,AAS48507,AAH98401,AAI14571,AAI15737 Hs.21422 GDB:1320257 KIAA0343|MGC138845|MGC138846 neuron-glia-cam-related cell adhesion molecule protein-coding 731928 NRD1 nardilysin (N-arginine dibasic convertase) 729085,1580863 12463163,9581555,15544571,9479496,18355445,17442499,16923819,16710414,16344560,15489334,14702039,12590613,12477932,12095415,11478915,11432822,11042131 729085 4898 NM_001101662,NM_002525,AJ000350,AL050343,AL589663,CH471059,AK055516,AY049784,AY360265,BC008775,CA422553,DA245717,DA756064,U64898,X93207,X93209 NP_001095132,NP_002516,CAA04025,CAI22214,EAX06804,EAX06805,EAX06806,EAX06807,EAX06808,EAX06809,AAL15441,AAQ63406,AAH08775,AAC39597,CAA63694,CAA63698,O43847,Q5TFB9,Q5VUL1,Q6UUU9,Q96L67 Hs.584782 GDB:9758315 hNRD1|hNRD2 protein-coding 1312137 NRF1 nuclear respiratory factor 1 This gene encodes a phosphorylated nuclear protein with a bZIP domain. This protein homodimerizes and functions as a transcription factor that activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternate transcriptional splice variants, which encode the same protein, have been characterized. Additional variants encoding different protein isoforms have been described but they have not been fully characterized. 1580863,1357966 15525513,8108407,7629110,8034649,18184751,18071027,16082529,15992771,15684387,15656981,15479157,15452206,15342556,15257658,15126285,14962666,14747477,14715254,12958173,12832613,12690205,12477932,11943463,11457459,11069771,11058604,10777530,10412986,10364186,10222232,9492280,9228045,9108165,8541844,8253388,7558044,2584221,12174908,12490281,11340167,9150357 1357966 4899 DN998889,NM_001040110,AC078846,AC084864,CH236950,CH471070,U18375,U18376,U18377,U18378,U18379,U18380,U18381,U18382,U18383,AI816827,AK290891,AL530274,BC016925,BG742958,BM449724,BM993780,BP215381,NM_005011,EU159452,L22454,U02683 NP_005002,NP_001035199,EAL24100,EAW83726,EAW83727,EAW83728,EAW83729,EAW83730,EAW83731,AAA79013,BAF83580,AAH16925,ABV90872,AAA16918,AAA21647,Q16656,Q96AN2,ABZ92172 Hs.654363 GDB:681228 ALPHA-PAL protein-coding 731515 NRG1 neuregulin 1 Neuregulin 1 (NRG1) was originally identified as a 44-kD glycoprotein that interacts with the NEU/ERBB2 receptor tyrosine kinase to increase its phosphorylation on tyrosine residues. It is known that an extraordinary variety of different isoforms are produced from the NRG1 gene by alternative splicing. These isoforms include heregulins (HRGs), glial growth factors (GGFs) and sensory and motor neuron-derived factor (SMDF). They are tissue-specifically expressed and differ significantly in their structure. The HRG isoforms all contain immunoglobulin (Ig) and epidermal growth factor-like (EGF-like) domains. GGF and GGF2 isoforms contain a kringle-like sequence plus Ig and EGF-like domains; and the SMDF isoform shares only the EGF-like domain with other isoforms. The receptors for all NRG1 isoforms are the ERBB family of tyrosine kinase transmembrane receptors. Through interaction with ERBB receptors, NRG1 isoforms induce the growth and differentialtion of epithelial, neuronal, glial, and other types of cells. 1580810,1581606,1580863 8096067,1348215,1350381,15073182,7509448,15155732,10559227,18466881,18466879,18455369,18395550,18291420,18286587,18282690,18198266,18193072,18180429,18032396,17962208,17941827,17925794,17901998,17884806,17652086,17631867,17602072,17598910,17565985,17562386,17519028,17503451,17499242,17447867,17408693,17405926,17366345,17336946,17300918,17275115,17214955,17072305,17033632,16940976,16891421,16868568,16867224,16825199,16767099,16730337,16690615,16687441,16638076,16618933,16526041,16520822,16483744,16470843,16446404,16442083,16428439,16326006,16287046,16249994,16219118,16219117,16189508,16158055,16155362,16082692,15939841,15897877,15703820,15645137,15609326,15584912,15545978,15538186,15527969,15498868,15494726,15489334,15466169,15326116,15303101,15276238,15248869,15219675,15197397,15162166,15159416,15007393,14966480,14729827,14702039,14699424,14647391,14632199,14569272,12874607,12808428,12800145,12768307,12646923,12600989,12556556,12528817,12509456,12478479,12477932,12471041,12204892,12145742,12082616,11896060,11555649,11116142,10597312,10585499,10537356,10523851,9685409,9565587,9373149,9342050,9333014,9168114,8702572,8325659,8125298,8095334,8062828,7903175,7876250,7782315,7730382,7721889,7689552,7592681,16189514 1580810,1581606 3084 EU363510,L12260,L12261,L41827,M94165,M94166,M94167,M94168,S68256,U02325,U02326,U02327,U02328,U02329,U02330,EU363509,NM_013962,NM_013960,NM_013964,NM_013956,NM_013957,NM_013958,NM_004495,NM_013959,NM_013961,AC021909,AC022833,AC022850,AC023948,AC068359,AC068931,AC083977,AC103675,AC104000,AC104029,AC113209,AF491780,BK000383,CH471080,AF026146,AK097005,AK223435,AK289927,AK290730,AY207002,BC006492,BC007675,BC064587,BC073871,BT007389,CR450288,CR594949,EF372273,EF372274,EF372275,EF372276,EF372277,EF517295,EF517296,EF517297,EU359055,EU363508 ABY66349,ABY66350,AAB59622,AAB59358,AAC41764,AAA58638,AAA58639,AAA58640,AAA58641,AAA19950,AAA19951,AAA19952,AAA19953,AAA19954,AAA19955,Q02297,Q15491,Q53F54,Q6ICV5,Q6PK61,Q7RTV8,Q7RTW3,Q7RTW4,Q7RTW5,Q86WJ0,Q96IB3,NP_039256,NP_039254,NP_039258,NP_039250,NP_039251,NP_039252,NP_004486,NP_039253,NP_039255,AAM71137,AAM71139,AAM71140,DAA00040,DAA00041,DAA00042,DAA00043,DAA00044,DAA00045,DAA00046,DAA00047,DAA00048,EAW63407,EAW63408,EAW63409,EAW63410,EAW63411,EAW63412,EAW63413,EAW63414,EAW63415,EAW63416,EAW63417,EAW63418,EAW63419,AAD01795,BAD97155,BAF82616,BAF83419,AAO49724,AAH06492,AAH07675,AAH64587,AAH73871,AAP36053,CAG29284,ABQ53539,ABQ53540,ABQ53541,ABQ53542,ABQ53543,ABR13842,ABR13843,ABR13844,ABY70644,ABY66348 Hs.453951 GDB:132656 ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|NDF|SMDF protein-coding 1606028 NRG2 neuregulin 2 Neuregulin 2 (NRG2) is a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the Erbb family of receptors, NRG2 induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1 (NRG1), another member of the neuregulin family of ligands. NRG1 and NRG2 mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. The gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcripts encoding distinct isoforms have been described. 9168114,9168115,17962208,17945187,17598910,17563728,15961242,14722120,12477932,10974560,10369162,9417904,9348101,9199335 9542 NM_013981,NM_013983,NM_004883,NM_013982,AC008523,AC008667,AC010292,AC011379,AC094080,AF119157,AF119158,AF119162,CH471062,AB005060,AK124504,BC103983,BC103984,BC114333,BC114334,U92987 NP_053584,NP_053586,NP_004874,NP_053585,AAF28853,AAF28852,AAF28848,AAF28849,AAF28850,AAF28851,EAW62078,EAW62079,EAW62080,EAW62081,EAW62082,EAW62083,EAW62084,EAW62085,EAW62086,EAW62087,BAA23417,AAI03984,AAI03985,AAI14334,AAI14335,O14511,Q3MI86,AAI66615 Hs.408515 GDB:9957301 Don-1|HRG2|NTAK protein-coding 1317640 NRG3 neuregulin 3 9275162,17962208,17880691,17598910,16478787,15164054,14702039,11032326 10718 AC010157,AL096705,AL096706,AL096863,AL096864,AL136085,AL354749,AL356129,AL358552,AL391478,AL513204,AL513316,AL589782,CH471142,AK098823,AK122886,CR617978,DQ001411,NM_001010848,DQ338459,DQ857894 NP_001010848,CAI22410,CAH71050,CAH70641,CAI15622,CAH73645,CAI17213,EAW80374,AAY17216,ABC69293,ABG77979,P56975,Q2LC36 Hs.125119 GDB:9958207 HRG3|pro-NRG3 protein-coding 1606150 NRG4 neuregulin 4 The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM] 17962208,17684490,17545517,15583696,15489334,12477932,10348342 145957 NM_138573,AC027104,AC087456,CH471136,AM392364,AM392365,AM392366,BC017568,BX538100,CR749519 NP_612640,EAW99227,EAW99228,CAL35829,CAL35830,CAL35831,AAH17568,CAD98015,CAH18333,Q0P6N4,Q0P6N5,Q0P6N6,Q68D87,Q7Z663,Q8WWG1 Hs.696574 DKFZp779N0541|DKFZp779N1944|HRG4 protein-coding 733655 NRGN neurogranin (protein kinase C substrate, RC3) Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. 1580863 10075657,17244347,17140601,16677608,15489334,12889141,12808095,12477932,11060308,9886843,9499372,9143500,8929222,8080473,7898318 4900 AP000866,CH471065,X99075,X99076,Y15058,Y15059,BC002835,BM923818,BT007325,DB474181,U89165,Y09689,NM_006176,NM_001126181,AJ317956 EAW67593,EAW67594,CAA67532,CAA67533,CAA75343,AAH02835,AAP35989,AAB49458,CAA70867,Q92686,NP_006167,NP_001119653,CAC37631 Hs.524116 GDB:1391761 RC3|hng neurogranin protein-coding 1323522 NRIP1 nuclear receptor interacting protein 1 Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. 1580863 15572661,7641693,10364267,11266503,12773562,11518808,17880687,16527872,16439465,16213843,16131398,15632153,15489334,15060175,14736873,14702039,14581481,12782406,12554755,12549917,12477932,12403842,11509661,11459805,11285237,11006275,10830953,10428779,10406462,10022764,9774688,9626662,9556573,9521594,8887632,1266503,16189514,16009131,9774463 8204 AF127577,AF248484,AL163207,CH471079,AK123818,BC040361,BE792046,CR623476,X84373,NM_003489 NP_003480,AAF35255,AAF62185,CAB90396,EAX10047,AAH40361,CAA59108,P48552,ABM82106,ABM85288 Hs.155017 GDB:9900364 RIP140 protein-coding 1350542 NRIP2 nuclear receptor interacting protein 2 1580863 17075290,16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863,10860982 83714 NM_031474,AC005841,CH471116,AK054740,AK098063,AL136557,BC036063,BC131562 NP_113662,EAW88888,CAB66492,AAH36063,AAI31563,Q9BQI9,CAL37962 Hs.530816 DKFZP761G1913 protein-coding 1312415 NRIP3 nuclear receptor interacting protein 3 15489334,14702039,12601173,12477932,11528127 56675 NM_020645,AC026894,AC079296,AJ400877,CH471064,AK024750,AK098694,AY211930,BC008835 NP_065696,CAB92286,EAW68604,BAB14984,AAO65183,AAH08835,Q9NQ35 Hs.523467 C11orf14|NY-SAR-105 protein-coding 1344667 NRK Nik related kinase 1580863 16381901,15772651,15489336,15489334,14702039,12837278,12477932,11230166,11076863 203447 NM_198465,CH471120,Z68339,Z69734,Z70274,AK131549,BC108702,BX538345 NP_940867,EAX02749,EAX02750,EAX02751,BAD18683,AAI08703,CAD98108,Q0JTE2,Q0JUN3,Q7Z2Y5,CAL37778,CAL38221 Hs.209527 DKFZp686A17109|FLJ16788|MGC131849|NESK protein-coding 1313083 NRL neural retina leucine zipper This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. 1580991,1580863 8939891,1729696,17335001,16854989,15591106,15489334,15459973,15328344,15001570,12796249,12566383,12552256,12477932,12107411,11879142,11477108,10887186,10192380,9344665,1427865,9390516 1580991 4901 NM_006177,AL136295,CH471078,U95012,BC012395,BT006942,BX161381,BX161522,CR593888,M81840,M95925 NP_006168,EAW66116,AAB82768,AAH12395,AAP35588,CAD61873,CAD61954,AAA59948,AAA96828,P54845,Q53XD0 Hs.652297 GDB:6165856 D14S46E|RP27 protein-coding 1352240 NRM nurim (nuclear envelope membrane protein) 1304479 10402458,16702430,16303743,15542857,12975309,12477932 1304479 11270 AB110935,AB110936,AB202096,AL662797,AL732442,AL845353,BX908728,CH471081,CR759873,CR788240,NM_007243,CR936878,AF143676,AK075509,AY358411,BC004509,BC021260,BC039865,CR592223,CR596567,CR597197,CR604044,CR604619,CR606826,CR608026,CR609683,CR614897,CR616786,CR618359,CR619257,CR623441 NP_009174,BAD13701,BAD13702,BAE78616,CAI18193,CAI17763,CAI41884,CAI41885,CAI41886,CAI41887,CAI41888,CAQ07428,CAQ07429,EAX03320,CAQ08687,CAQ08688,CAQ07568,CAQ07569,CAQ06810,CAQ06811,AAD45885,AAQ88777,AAH04509,AAH21260,AAH39865,Q8IXM6 Hs.519993 GDB:9957609 NRM29 protein-coding 1351872 NRN1 neuritin 1 This gene is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. In vitro assays demonstrated that this protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. 633434 16723126,15489334,14702039,14574404,12477932,9122250 633434 51299 NM_016588,AL136307,CH471087,AF114833,AF136631,AJ420483,AK093824,AL541038,BC002683,BC042019,CR591192,CR610397,CR610504,CR613189,CR614740,CR615533,CR620311,CR624108 NP_057672,CAC00777,EAW55183,EAW55184,AAP97232,AAF62371,AAH02683,AAH42019,Q9NPD7 Hs.103291 GDB:11506343 MGC44811|NRN|dJ380B8.2 protein-coding 1605881 NRN1L neuritin 1-like 12975309,12477932 123904 NM_198443,AC040162,CH471092,AY358782,BC100863,BC100864,BC100865,BC100866 NP_940845,EAW83184,AAQ89142,AAI00864,AAI00865,AAI00866,AAI00867,Q496H8 Hs.435464 MGC118990|MGC118993|UNQ2446 protein-coding 733081 NRP1 neuropilin 1 NRP1 is a membrane-bound coreceptor to a tyrosine kinase receptor for both vascular endothelial growth factor (VEGF; MIM 192240) and semaphorin (see SEMA3A; MIM 603961) family members. NRP1 plays versatile roles in angiogenesis, axon guidance, cell survival, migration, and invasion.[supplied by OMIM] 1581611,1580863,1334463 14760080,14514674,14500350,12883660,12730958,12577308,12517344,12477932,12216067,11986311,11976715,11953749,11807987,11333271,11166270,11112349,10842181,10748121,10688880,10520995,10520994,10414980,10409677,10329017,10196546,9883722,9856463,9331348,16189514,14600159,15550623,15239958,15126502,17222790,9288753,9529250,11256614,18284215,18272814,18231921,18164591,18065694,17974973,17917967,17891484,17726369,17575273,17369861,17369353,17088944,17015762,16990775,16849452,16847823,16809290,16763549,16648151,16513643,16424390,16371354,16344560,16335952,16330548,15956974,15920019,15695515,15613413,15522955,15489334,15233640,15166498,15161648,17376520,15160992 1581611,1334463 8829 NM_003873,NM_001024629,NM_001024628,AF280548,AF280549,AF280550,AF280551,AF482431,AL121748,AL353600,CH471072,AA973607,AB209641,AF016050,AF018956,AF086016,AF145712,AF268691,AF280547,AK292822,AL698999,AL833608,AY249243,BC007533,BC007737,BT006995,BX510902,BX648025,BX648250,CR593940,CR749333,DA702852 NP_003864,NP_001019800,NP_001019799,AAG41893,AAG41894,AAG41895,AAG41896,AAP78927,CAI40248,CAI40249,CAI40250,CAI40251,CAI40252,CAI40253,CAI40254,CAI40255,CAI40256,CAI40257,CAI16997,CAI16998,CAI16999,CAI17000,EAW85942,EAW85943,EAW85944,EAW85945,BAD92878,AAC12921,AAC51759,AAF44344,AAQ14300,AAG41406,BAF85511,CAH10397,AAP80144,AAH07533,AAH07737,AAP35641,CAD91133,CAH10373,CAH18187,O14786,Q59F20,Q5JWQ1,Q5JWQ2,Q5JWQ5,Q5JWQ6,Q5T7F0,Q5T7F1,Q5T7F2,Q5T7F3,Q68DN3,Q6AWA9,Q6X907,Q71SW6,Q7Z5M2,Q86T59,Q96I90,Q9H2D7,Q9H2D8,Q9H2D9,Q9H2E0,Q9H2E1 Hs.131704 GDB:9839107 BDCA4|CD304|DKFZp686A03134|DKFZp781F1414|NP1|NRP|VEGF165R neuropilin protein-coding 732191 NRP2 neuropilin 2 This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 1580863 9288754,11112349,9331348,11278319,18307536,18182619,18065694,17917967,17891484,17699524,17427189,17088944,16816121,16621967,15613413,14760080,14702039,12845630,12730958,12659673,12632379,12477932,12412174,12210066,11815985,11756651,11677062,11394892,10891538,10748121,10520995,10329017,10196546,9883722,9872925,9856463,16189514,15550623 8828 NM_201266,NM_003872,NM_201279,NM_018534,NM_201267,NM_201264,AC007362,AC007561,AF281074,CH471063,AF016098,AF022860,AF280544,AF280545,AF280546,AK057705,AK130198,AK290934,AL833606,BC009222,BC018631,BC101525,BC104770,BC117413,BX537423,AF022859,BX648292 NP_957718,NP_003863,NP_958436,NP_061004,NP_957719,NP_957716,AAX93216,AAY14875,AAG41897,AAG41898,AAG41899,AAG41900,EAW70362,EAW70363,EAW70364,EAW70365,EAW70366,EAW70367,EAW70368,EAW70369,EAW70370,EAW70371,EAW70372,EAW70373,AAC12922,AAC51789,AAG41403,AAG41404,AAG41405,BAF83623,AAH09222,AAI01526,AAI04771,AAI17414,AAC51788,CAD97665,O60462,Q53TQ4,Q53TS3,Q7LBX6,Q7LBX7,Q7Z3T9,Q96GU8,Q9H2D4,Q9H2D5,Q9H2E2,Q9H2E3,Q9H2E4,Q9P154 Hs.471200 GDB:9957335 MGC126574|NP2|NPN2|PRO2714|VEGF165R2 neuropilin-2 protein-coding 1317257 NRSN1 neurensin 1 12463420,15489334,14702039,14574404,12477932,9373149,8125298,1870127 140767 NM_080723,AL139388,AL445196,AL591343,CH471087,AF418980,AK096290,AK225775,AL833257,BC023514,BC067291 NP_542454,CAH71785,CAH71786,CAH71787,EAW55438,EAW55439,AAL14639,BAC04748,AAH23514,Q5VTS0,Q8IZ57,ABM84321,ABM87716 Hs.49230 GDB:11508142 VMP|p24 vesicular membrane protein p24 protein-coding 1313267 NRSN2 neurensin 2 11076863,11256614,16527258,16381901,15489336,15489334,14702039,12477932,11780052,11230166 80023 NM_024958,AL034548,CH471133,AK026982,AK290527,AL136915,BC001963,CR533441,CR599413,CR608694,CR612829 NP_079234,CAI19176,EAX10679,EAX10680,BAB15613,BAF83216,CAB66849,AAH01963,CAG38472,Q0JTB0,Q9GZP1,CAL38253 Hs.416024 GDB:11505310 C20orf98|FLJ23329|dJ1103G7.6 chromosome 20 open reading frame 98 protein-coding 731950 NRTN neurturin Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. 1600267,1580863 8945474,9286710,15242795,18222320,17522305,16895582,16081799,15829225,12397373,11790765,10829012,9700200,9407096,9192899,9192898 1600267 4902 AC011499,AC024592,CH471139,AL161995,BC137399,BC137400,U78110,NM_004558 NP_004549,EAW69140,CAB82327,AAI37400,AAI37401,AAC50898,Q99748 Hs.234775 GDB:6090018 NTN protein-coding 734185 NRXN1 neurexin 1 Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. 1580863 11152476,1621094,18490107,18270208,18179900,17989066,17158188,16344560,15815621,15797875,15684424,14522992,12477932,12421765,12168954,12036300,11944992,11243866,11171101,11036064,9921901,9856994,9628581,9448462,9325340,8901523,8786425,8699246,8576240,14702039 9378 NM_004801,NM_138735,AC007462,AC007560,AC007682,AC009234,AC068715,AC068725,AC069550,AC078994,CH471053,AB011150,AB035356,AF064842,AF087975,AK093260,AK124726,BC046631,BC125179,BC125180,BC150247,BX647616,DA153976,EF539882 NP_004792,NP_620072,AAF03536,AAY14894,AAY14944,AAG59642,AAG59602,AAG38120,AAK06387,EAX00182,EAX00183,EAX00184,EAX00185,EAX00186,BAA25504,BAA87821,AAH46631,AAI25180,AAI25181,AAI50248,CAI46085,ABS86974,P58400,Q08AH0,Q49A31,Q5HYI0,Q9ULB1 Hs.637685 GDB:9099632 DKFZp313P2036|FLJ35941|Hs.22998|KIAA0578 protein-coding 735900 NRXN2 neurexin 2 Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. 1580863 16554811,15491607,14702039,12421765,12168954,12036300,11944992,10231032,9888998,9707552,9647694,8786425,8576240,1621094 9379 NM_138732,NM_015080,NM_138734,AC044790,AP001092,AP001462,CH471076,AB023138,AB035266,AB177862,AK098211,BC150275 NP_620060,NP_055895,NP_620063,AAK68154,EAW74277,EAW74278,EAW74279,EAW74280,BAA76765,BAA94075,BAD66840,AAI50276,P58401,Q5W9F7,Q9P2S2 Hs.372938 GDB:9099633 FLJ40892|KIAA0921 protein-coding 1353595 NRXN3 neurexin 3 Neurexins are a family of proteins that function in the vertebrate nervous system as cell adhesion molecules and receptors. They are encoded by several unlinked genes of which two, NRXN1 and NRXN3, are among the largest known human genes. Three of the genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons to generate thousands of distinct mRNA transcripts and protein isoforms. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms; a much smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. 1580863 1621094,17804423,17081983,16344560,14702039,12508121,12477932,12379233,12036300,11944992,9872452,9707552,9628581,8786425,8576240 9369 AB018286,AJ316284,AJ493127,AK056530,AL833739,BC059368,BC068469,BC142649,BC150194,BC152457,DA124460,DA128446,DA243312,NM_001105250,NM_138970,AC007056,AC007058,AC008045,AC008056,AC009396,AC011440,AC012099,AC018514,AC022469,AC026888,AF099810,AF123462,CH471061,NM_004796 EAW81315,EAW81316,EAW81317,EAW81318,BAA34463,CAC87720,CAD37989,CAH56254,AAH59368,AAH68469,AAI42650,AAI50195,AAI52458,Q6NUR0,Q8IUD8,Q8IUE3,EAW81314,Q9HDB5,Q9Y4C0,Q9Y6S3,NP_004787,NP_001098720,NP_620426,AAD41968,AAF28465,AAF09143,AAF21147,AAF61277,AAF15058,AAF99808,AAF87841,AAC68909,AAD13621,EAW81312,EAW81313 Hs.368307 GDB:9099634 KIAA0743|MGC176711 protein-coding 1318685 NSBP1 nucleosomal binding protein 1 1580863 11161810,15592455,15489334,14702039,12477932 79366 BC005342,CR602524,NM_030763,AF250330,AL391294,CH471104,AF250329,AK094058 BAC04274,AAH05342,P82970,Q5JSK6,Q5JSK7,Q5JSK8,Q5JSK9,Q5JSL0,Q5JSL1,ABZ92517,NP_110390,AAK14063,CAI39707,CAI39708,CAI39709,CAI39710,CAI39711,CAI39712,EAW98582,AAK14062 Hs.282204 GDB:10796246 protein-coding 1317121 NSD1 nuclear receptor binding SET domain protein 1 This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 11509567,18001468,17589499,17565729,17561922,16780628,16010675,15942875,15742365,15640245,15623156,15580547,15539801,15382262,15365454,15362962,15169884,15146197,14997421,14702039,12931227,12807965,12687502,12676901,12525543,12464997,11896389,11733144,11493482,11266437,9628876,8889548 64324 AK055187,AK056667,AK091358,AK126591,AL832983,AY049721,BC139789,CK300021,CN333750,NM_022455,NM_172349,AC008570,AC027314,AC146507,CH471195,AF085858,AF322907,AF380302,AF395588,AK001546,AK025916,AK026066 BAB15346,BAB70868,BAB71247,BAC03645,CAH56331,AAL06645,AAI39790,Q658U6,Q8NB95,Q96DQ7,Q96L73,Q96MN8,Q9H6B5,Q9H6H8,NP_071900,NP_758859,EAW85031,EAW85032,EAW85033,AAK92049,AAL27991,AAL40694,BAB15281 Hs.106861,Hs.654666 GDB:11504533 ARA267|DKFZp666C163|FLJ10684|FLJ22263|FLJ44628|KMT3B|SOTOS|STO protein-coding 1343590 NSDHL NAD(P) dependent steroid dehydrogenase-like 1580863 10710235,11256614,17498944,16381901,16230564,15805545,15489336,15489334,14506130,12966526,12837764,12477932,11907515,11076863,10854409,8828037,8828036,8439729,1602151 50814 CR611612,CR619158,CR625562,CR626623,U47105,NM_015922,CH471172,AK026549,BC000245,BC007816,CR593268,CR594673,CR609334 AAC50558,Q0JSG8,Q15738,CAL38054,CAL38546,ABM83414,ABM86625,NP_057006,EAW72897,EAW72898,EAW72899,AAH00245,AAH07816 Hs.57698 H105E3|XAP104 protein-coding 733160 NSF N-ethylmaleimide-sensitive factor 1580863 17353931,18077426,17510209,16461345,16169070,15858065,15489334,15322554,15293277,14769786,14607937,14567912,12477932,12130635,12011465,11680900,11511104,11461150,11403936,10954749,10903204,10747018,10683148,10196135,9697855,9362506,9349823,9325254,9286697,8973549,8940356,8875895,8636227,8051214,8013662,7622514,1315316 4905 NM_006178,AC004098,AC138645,CH471231,CQ871246,AF102846,AF135168,AK226078,AK290204,BC013314,BC030613,BM451383,DB460965,U03985,U80997 AAG23890,NP_006169,EAW57706,EAW57707,CAH56804,AAF04745,AAF70545,BAF82893,AAH13314,AAH30613,AAA17411,P46459,Q96D47,Q9H3V6 Hs.431279 GDB:3811864 SKD2 protein-coding 734170 NSFL1C NSFL1 (p97) cofactor (p47) N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Multiple transcript variants encoding several different isoforms have been found for this gene. 17081983,15489334,15302935,14702039,12810701,12529442,12477932,12473691,12411482,11780052,11042152,10931946,9506515,9373149,9214505,9110174,8125298,16189514 55968 NM_182483,NM_018839,NM_016143,AL109658,CH471133,AF078856,AF086909,AF112211,AF283774,AK001511,AK023585,AK093845,AK223334,AK223341,BC002801,BE795675,BQ007132,CR600062,CR604875,CR605903,CR617725 NP_872289,NP_061327,NP_057227,CAB96827,CAI22730,CAI22731,EAX10627,EAX10628,EAX10629,EAX10630,EAX10631,EAX10632,AAD44488,AAP97139,AAF17199,BAA91731,BAD97054,BAD97061,AAH02801,Q53FE8,Q53FF5,Q5JXA3,Q5JXA4,Q5JXA5,Q5JXA6,Q9UNZ2,ABM84115,ABM87512 Hs.12865 GDB:11506345 MGC3347|UBX1|UBXD10|dJ776F14.1|p47 p47 protein protein-coding 1346608 NSFP N-ethylmaleimide-sensitive factor pseudogene 404670 1345295 NSL1 NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. 15502821,16585270,17604136,16710414,16565220,16344560,15489334,14702039,12477932,9373149,8125298 25936 AK222996,AK223260,AL050084,BC007067,BC036048,BQ023978,BU570983,CR591975,DB045932,NM_015471,NM_001042549,AC104333,AL591647,CH471100,AA806390,AF201941,AF255793,AK092359,AK124596 BAD96716,BAD96980,CAB43260,AAH07067,Q53FM2,Q5SY74,Q96IY1,ABM83825,ABM87148,NP_056286,NP_001036014,CAI17046,CAI17047,EAW93379,EAW93380,AAF86877,AAG44640 Hs.497692 C1orf48|DC8|DKFZP566O1646|MIS14 protein-coding 1352100 NSMAF neutral sphingomyelinase (N-SMase) activation associated factor Cellular responses to tumor necrosis factor (TNF; MIM 191160) are initiated by the interaction of TNF with 2 distinct cell surface receptors that transmit signals to the cytoplasm and nucleus, leading to profound alterations in transcriptional programs. The initiation of intracellular signaling events through 1 of these receptors, the 55-kD tumor necrosis factor receptor-1 (TNFR1; MIM 191190), appears to depend on protein intermediates that interact with specific cytoplasmic domains of TNFR1 (Adam-Klages et al., 1996 [PubMed 8808629]).[supplied by OMIM] 1580863 8808629,15653433,12477932,12391233,10640829,10601289 8439 NM_003580,AC068522,AC092700,CH471068,AK292679,BC041124,CR609002,CR609126,CR610080,X96586 NP_003571,EAW86817,BAF85368,AAH41124,CAA65405,Q8IW26,Q92636 Hs.372000 GDB:9955157 FAN protein-coding 1350522 NSMCE1 non-SMC element 1 homolog (S. cerevisiae) 737633 15489334,14702039,12477932,11927594,11042152,8889548 737633 197370 NM_145080,AC106739,CH471145,AF161451,AF161455,AK056795,BC018938,BU685363,CR589967,CR592550,CR593451,CR598954,CR600880,CR607587,CR620851,CR625772,DB463393 NP_659547,EAW55754,EAW55755,EAW55756,EAW55757,EAW55758,AAF29011,AAF29015,AAH18938,Q8WV22 Hs.284295 NSE1 protein-coding 1606915 NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae) 18163389,16810316,16055714,15489334,14702039,12477932 286053 NM_173685,AC084083,AC126366,CH471060,AK057002,BC032797,CR620646 NP_775956,EAW92083,EAW92084,BAB71338,AAH32797,Q96MF7 Hs.388297 C8orf36|FLJ32440|MMS21|NSE2 protein-coding 1319136 NSMCE4A non-SMC element 4 homolog A (S. cerevisiae) 737633 15164054,14702039,12477932,9373149,8125298,15752197,15498874,15489334 737633 54780 AL731566,CH471066,AF258584,NM_017615,AK000010,AK056579,AK222487,BC005212,BC062427,CR618574,CR623553 NP_060085,CAI14816,CAI14817,EAW49330,EAW49331,EAW49332,EAW49333,AAG23787,BAA90881,BAD96207,AAH05212,AAH62427,Q9NXX6 Hs.258798 C10orf86|FLJ20003|NSE4A|RP11-500G22.3|bA500G22|bA500G22.3 chromosome 10 open reading frame 86 protein-coding 1348039 NSUN2 NOL1/NOP2/Sun domain family, member 2 Maturation of cytoplasmic tRNAs includes splicing of introns, which are located 1 nucleotide 3-prime from the anticodon in all intron-containing tRNA genes. In tRNA-leu(CAA), the first position of the anticodon, C34, is converted to 5-methylcytosine, a modification necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. NSUN2 encodes a methyltransferase that catalyzes the intron-dependent formation of 5-methylcytosine at C34 of tRNA-leu(CAA) (Brzezicha et al., 2006 [PubMed 17071714]).[supplied by OMIM] 737633 17071714,17215513,15345747,15302935,14702039,12477932 737633 54888 NM_017755,AC010366,AC027334,CH471102,AB255451,AK000310,AK023994,AK055456,AK291144,BC001041,BC137083,BQ689094,CR619211 NP_060225,EAX08105,EAX08106,EAX08107,BAF34150,BAA91075,BAB14762,BAF83833,AAH01041,AAI37084,Q08J23 Hs.481526 FLJ20303|MISU|SAKI|TRM4 protein-coding 1351028 NSUN3 NOL1/NOP2/Sun domain family, member 3 737633 12477932 737633 63899 AC019233,AC130896,CH471052,AF169972,AK026262,NM_022072,BC018432,BC020602,BC057238,CR594640 NP_071355,EAW79893,EAW79894,AAQ13600,BAB15417,AAH20602,AAH57238,Q9H649 Hs.656338 FLJ22109|FLJ22609|MST077|MSTP077 protein-coding 1343230 NSUN4 NOL1/NOP2/Sun domain family, member 4 16189514,14702039,12477932 387338 NM_199044,AL122001,CH471059,AK021577,AK057420,AK097524,AK128066,AK291741,AK292353,BC014441,BC016907,BE542166,BM153143,BM888153,BM994678,BU536211,BX360729,BX648592,CR620787,CR624794,CR625030 NP_950245,CAI21962,EAX06920,BAB13847,BAC87258,BAF84430,BAF85042,AAH14441,AAH16907,Q6ZRQ1,Q96CB9 Hs.163424 MGC22960|RP4-603I14.2 protein-coding 1319518 NSUN5 NOL1/NOP2/Sun domain family, member 5 This gene encodes a protein with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen that is a member of an evolutionarily conserved protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 15489334,15302935,14702039,12853948,12477932,12073013,11978965,11124703,9847074 55695 NM_018044,NM_148956,AC073841,CH471200,CS072322,AF412028,AF420249,AK001129,AK098619,AK125667,AK126375,BC008084 NP_060514,NP_683759,AAQ96838,AAQ96839,EAW69692,EAW69695,CAI93460,AAM62310,AAL16067,BAA91515,BAC86237,AAH08084,Q96P11,ABM83920,ABM87241 Hs.647060 GDB:11508499 (NOL1)|FLJ10267|MGC986|NOL1R|NSUN5A|WBSCR20|WBSCR20A|p120|p120 (NOL1)|wbscr20a williams beuren syndrome chromosome region 20a protein-coding 1604983 NSUN5B NOL1/NOP2/Sun domain family, member 5B This gene shares high sequence similarity with the genes WBSCR20A and WBSCR20C; these three genes are the products of gene duplication during evolution. The protein encoded by this gene is smaller than the proteins encoded by WBSCR20A and WBSCR20C. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Multiple transcript variants encoding the same protein have been found for this gene. 15489334,14702039,12477932,12073013,11978965 155400 NM_001039575,NM_145645,NM_001039576,AC006014,AF416610,AK094312,AK126486,AK128374,BC044928,BC065512,BC080602,BC088379,BC093978,BC103750,BC107112,BG741008,BM456741,BX646027 NP_001034664,NP_663620,NP_001034665,AAM62318,AAH93978,AAI07113,Q3KNT7 Hs.699272 MGC129801|WBSCR20B protein-coding 1606412 NSUN5C NOL1/NOP2/Sun domain family, member 5C This gene shares high sequence similarity with several genes in the Williams Beuren Syndrome critical region and its deletion is associated with this disorder. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 15489334,14702039,12477932,12073013,11978965 260294 NM_032158,NM_148936,AC005488,AF416611,AF420250,AK021688,AK292107,AL117583,AL833016,BC007488,BC050591,BC056405,NM_001039487,BC066297,BC082753,BC093976,BC101515,BC106049,BC107111,CR601630,CR621627 NP_001034576,NP_115534,NP_683738,AAM62319,AAL16068,BAB13875,BAF84796,CAH56289,AAH56405,AAH66297,AAH82753,AAH93976,AAI01516,AAI06050,AAI07112,Q3KNT8,Q63ZY6 Hs.510927 DKFZp434K058|DKFZp666P104|FLJ11626|MGC129801|MGC15057|NOL1R2|WBSCR20B|WBSCR20C protein-coding 1344487 NSUN6 NOL1/NOP2/Sun domain family, member 6 1580863 15489334,15164054,14702039,12477932 221078 NM_182543,AL450384,AL512641,CH471072,AK074323,BC035778,CR617827 NP_872349,CAH73205,EAW86191,EAW86192,BAB85051,AAH35778,Q8TEA1 Hs.396175 4933414E04Rik|FLJ23743|NOPD1 protein-coding 1602865 NSUN7 NOL1/NOP2/Sun domain family, member 7 14702039,12477932 79730 NM_024677,AC131953,CH471069,AK024063,AK094298,BC036568,BC042401 NP_078953,EAW92970,EAW92971,EAW92972,EAW92973,BAB14808,BAC04325,AAH36568,Q8NE18 Hs.590923 FLJ14001 protein-coding 1349612 NSX N syndrome (mental retardation, malformations, chromosome breakage) 4906 GDB:125596 1349655 NT3 3'-nucleotidase 4877 GDB:118845 1353894 NT5C 5', 3'-nucleotidase, cytosolic Pyrimidine 5-prime nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1; MIM 606224) and type II (UMPH2).[supplied by OMIM] 1580863 10681516,15489334,15136231,14702039,12714505,12477932,12418222,12234672,10899995,3186746,2833155,2157703 30833 NM_014595,AC022211,BK000192,CH471099,AF154829,AK000419,BC002516,BC008183,BC017454,BC022334,BC047763 NP_055410,DAA00070,EAW89241,EAW89242,EAW89243,AAF36534,BAA91151,AAH08183,AAH17454,AAH22334,Q8TCD5 Hs.67201 GDB:120480 DNT|DNT1|P5N2|PN-I|PN-II|UMPH2|cdN|dNT-1 protein-coding 1322084 NT5C1A 5'-nucleotidase, cytosolic IA Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM] 1580863 11133996,17065091,16710414,15888028,15489334,12477932,11690631 84618 NM_032526,AL035404,CH471059,AF331801,AY028778,BC103879,BC103880 AAI03881,NP_115915,CAI19573,EAX07259,AAK01294,AAK30000,AAI03880,Q9BXI3 Hs.307006 GDB:11506347 CN-I|CN-IA|CN1|CN1A|MGC119199|MGC119201 protein-coding 1354038 NT5C1B 5'-nucleotidase, cytosolic IB Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM] 1580863 14702039,12477932,11690631 93034 NM_033253,NM_001002006,AC079148,CH471053,AA774429,AF352326,AF356185,AF417165,AJ295254,AK093234,AK093464,AK097422,AK097848,BC026076,BC141842 NP_150278,NP_001002006,AAX93260,EAX00852,EAX00853,EAX00854,AAK83285,AAK39108,AAL11910,CAC44363,BAC04103,BAC04174,Q53RX2,Q96P26 Hs.120319 GDB:11506349 AIRP|CN-IB|CN1B|MGC26640 protein-coding 1322721 NT5C2 5'-nucleotidase, cytosolic II Purine 5-prime-nucleotidase (EC 3.1.3.5) preferentially hydrolyzes inosine 5-prime-monophosphate (IMP) and other purine nucleotides, and is allosterically activated by various compounds, including ATP. The enzyme is exclusively located in the cytoplasmic matrix of cells and may have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases.[supplied by OMIM] 1580863 2848805,7999131,17405878,17350683,16189514,15923058,15489334,12477932,2839573 22978 AL139817,AL360001,CH471066,AK127670,AK291667,BC001595,BX648078,D38524,NM_012229 NP_036361,CAI40078,CAI40079,CAI40080,CAI40081,EAW49656,EAW49657,BAF84356,AAH01595,BAA07529,P49902,Q5QNZ7,Q5QNZ8,ABM83452,ABM86664 Hs.591920 GDB:569367 GMP|NT5B|PNT5|cN-II protein-coding 1323774 NT5C3 5'-nucleotidase, cytosolic III Pyrimidine 5-prime-nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates UMP and CMP to the corresponding nucleosides. There are 2 isozymes of pyrimidine 5-prime nucleotidase in red blood cells, referred to as type I (UMPH1) and type II (UMPH2; MIM 191720). The 2 enzymes are not separable by electrophoresis in humans but have distinct kinetic properties, and the proteins show no homology.[supplied by OMIM] 1580863 9428647,10942414,12930399,11795870,8557639,17349762,16381901,15604219,15489336,15489334,15238149,12714505,12477932,12418222,11369620,11230166,11076863,11042152,8889549,7818506 51251 NM_001002010,NM_001002009,NM_016489,AACC02000103,AC074338,AC083863,CH471073,AA482595,AF151067,AF312735,AK290118,AL136716,AW339593,BC013292,BC015856,BC066914,BC071652,BF790086,CB127255,CB127877,CB137440,CR533518,CR597528,CR616013,N98231 NP_001002010,NP_001002009,NP_057573,EAL24463,EAW94007,EAW94008,EAW94009,EAW94010,EAW94011,AAF36153,AAG33630,BAF82807,CAB66650,AAH13292,AAH15856,AAH66914,AAH71652,CAG38549,Q0JT06,Q0JTG8,Q9H0P0,CAL38016,CAL38194,CAL38358,ABM83769,ABW03538 Hs.487933 GDB:11503638 MGC27337|MGC87109|MGC87828|P5'N-1|PN-I|PSN1|UMPH|UMPH1|cN-III protein-coding 1602442 NT5C3L 5'-nucleotidase, cytosolic III-like 12477932 115024 NM_052935,AC091172,CH471152,AA730137,BC013742,BC014132,BC016971,BC067788,BE296438,BX438861,BX460247,CR590844,CR590850,CR595234,CR602296,CR604484,CR607780,CR608329,CR613714,CR614565,CR615474,CR617027,CR618474,CR622482,CR624506,CB045324 NP_443167,EAW60771,EAW60772,EAW60773,AAH13742,AAH14132,AAH16971,AAH67788,Q969T7 Hs.237536 MGC20781|MGC21375 protein-coding 1348422 NT5C3P1 5'-nucleotidase, cytosolic III pseudogene 1 11369620,9847074 90859 NG_000948,AC092661 GDB:11506351 UMPH1P pseudo 1353333 NT5CP1 5',3'-nucleotidase, cytosolic pseudogene 1 9847074 326609 NG_002598,AC005225 pseudo 1349114 NT5CP2 5',3'-nucleotidase, cytosolic pseudogene 2 9847074 326611 NG_002599,AC005225 pseudo 1313107 NT5DC1 5'-nucleotidase domain containing 1 15498874,15489334,14702039,14574404,12477932,12107410 221294 NM_152729,AL050331,AL121945,AL121963,CH471051,AF245044,AK090918,AK290408,AY203935,BC015138,BC056664,BC063504,BC108699,BG428640,BM153683,BM808222,CA390074,CR612669,CR623024,CR624824 NP_689942,CAI21537,CAI19532,CAI19533,CAI19534,EAW48236,EAW48237,EAW48238,EAW48239,AAG44481,BAF83097,AAP34458,AAI08700,Q5TFE4,Q9H2R1 Hs.520341 C6orf200|LP2642|MGC131837|MGC24302|NT5C2L1 protein-coding 1601740 NT5DC2 5'-nucleotidase domain containing 2 15489334,14702039,12477932,9110174,8619474 64943 BC047747,CR612874,NM_022908,AC112215,CH471055,AF131781,AK022504,AK023995,AK092469,BC014550 AAH14550,Q9H857,NP_075059,EAW65236,EAW65237,AAD20044,BAB14064,BAB14763 Hs.84753 FLJ12442 protein-coding 1602220 NT5DC3 5'-nucleotidase domain containing 3 15827139,15547748,14702039,12477932 51559 NM_016575,NM_001031701,AB032786,AC012555,AC025265,CH471054,AB032773,AK002128,BC052293 NP_057659,NP_001026871,BAA93086,EAW97715,EAW97716,EAW97717,EAW97718,BAA93053,BAA92095,AAH52293,Q86UY8 Hs.48428 FLJ11266|GNN|TU12B1-TY|TU12B1TY protein-coding 1603155 NT5DC4 5'-nucleotidase domain containing 4 14702039,12477932 284958 XM_001716541,XM_001715677,XM_001716359,AC079922,AK092780,BC041437 XP_001716593,XP_001715729,XP_001716411,AAH41437,Q86YG4 Hs.589714 protein-coding 734028 NT5E 5'-nucleotidase, ecto (CD73) Ecto-5-prime-nucleotidase (5-prime-ribonucleotide phosphohydrolase; EC 3.1.3.5) catalyzes the conversion at neutral pH of purine 5-prime mononucleotides to nucleosides, the preferred substrate being AMP. The enzyme consists of a dimer of 2 identical 70-kD subunits bound by a glycosyl phosphatidyl inositol linkage to the external face of the plasma membrane. The enzyme is used as a marker of lymphocyte differentiation. Consequently, a deficiency of NT5 occurs in a variety of immunodeficiency diseases (e.g., see MIM 102700, MIM 300300). Other forms of 5-prime nucleotidase exist in the cytoplasm and lysosomes and can be distinguished from ecto-NT5 by their substrate affinities, requirement for divalent magnesium ion, activation by ATP, and inhibition by inorganic phosphate.[supplied by OMIM] 1581647,1580863,1300048 3036115,2129526,18062933,17911479,17487388,17065075,16735966,16718268,16709165,16344560,16303743,14578500,12892649,12774669,12477932,12170585,12030367,12000134,11163406,11149913,11067892,11046060,11004484,10898423,10570953,10470109,9651114,9553767,9361795,9238677,9169488,9113412,9015312,8781432,8566797,8000038,2848759,2173922,2137649,819433 1581647 4907 NM_002526,AF069067,AL135903,AL589666,AY351432,CH471051,U21730,AK075008,AK075083,AK314661,BC015940,BC065937,CR591295,DA574510,DQ186653,X55740 NP_002517,AAC98672,CAH72336,CAH72337,CAI40164,CAI40165,CAI40167,CAI40168,AAQ21035,EAW48634,EAW48635,EAW48636,AAA96950,BAG37219,AAH15940,AAH65937,ABA39834,CAA39271,P21589,Q53Z63,Q5W116,Q6NZX3,Q96B60 Hs.153952 GDB:120243 CD73|E5NT|NT|NT5|NTE|eN|eNT 5 nucleotidase protein-coding 1320058 NT5M 5',3'-nucleotidase, mitochondrial This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580863 10899995,16004879,15489334,12477932,12352955,12124385 56953 NM_020201,AC006071,AJ277557,CH471196,AF210652,AL526346,BC035838,CR602400,DQ323995 NP_064586,CAB99251,EAW55710,AAF87076,AAH35838,ABC88597,Q2I378,Q9NPB1 Hs.513977 GDB:11500857 dNT-2|dNT2|mdN protein-coding 1350127 NTAN1 N-terminal asparagine amidase 1580863 15489334,14702039,12477932,8910481 123803 NM_173474,AC138932,AC139256,CH471301,AF092440,AK092915,BC017336,AL833023 NP_775745,EAW54749,AAP97215,AAH17336,Q658S0,Q7Z4Z0,Q96AB6,CAH56267 Hs.592045 DKFZp666E058 protein-coding 732368 NTF3 neurotrophin 3 The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. 631710,1358755,1358754,1580863 2236018,1542658,18428117,18203754,18069415,17698064,17234344,17112518,16786155,16441896,15843147,15770067,15589528,15544837,15489334,15365216,15146197,12900521,12710933,12598727,12477932,12397373,12107412,11920853,11877300,11580868,9756741,9488719,8925252,8841198,8819011,8621424,7991545,7733919,7703225,7514502,2365067,2344409,2025430,1889807,1889806 631710,1358755,1358754 4908 NM_001102654,NM_002527,AC007848,AC137627,CH471116,M37763,M61180,AW190653,BC069773,BC107075,BU939830,CD672441,CN267386,CR541906,X53655 NP_001096124,NP_002518,EAW88824,EAW88825,AAA59953,AAA63231,AAH69773,AAI07076,CAG46704,CAA37703,P20783 Hs.99171 GDB:125917 HDNF|MGC129711|NGF-2|NGF2|NT3 protein-coding 733149 NTF4 neurotrophin 4 This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3 prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. 737722,1580863 1496419,18203754,18179783,16648236,16648150,16316409,15987945,15489334,12900521,12477932,12397373,11855816,11738045,10631974,10490030,10388563,9519408,8873083,8241191,8061955,7703225,7541633,1742028,1313578,16189514,15258592,11263982 737722 4909 AAB20549 CR541900,NM_006179,NG_000019,AC008687,CH471177,M86528,BC012421,BT019368,BT019369 NP_006170,EAW52441,EAW52442,EAW52443,AAA60154,AAH12421,AAV38175,AAV38176,AAB20549,CAG46698,P34130,ABM82234,ABM85418 Hs.266902 GDB:134723 NT-4/5|NT4|NT5|NTF5 neurotrophin 5 protein-coding 1345269 NTF6A neurotrophin 6 alpha (pseudogene) 727527 1496419,1313578 727527 4910 NG_000019,AC008687,M86529 GDB:134735 NTF5P|NTF6|PSI-NT4 neurotrophin 6, alpha pseudogene pseudo 1347769 NTF6B neurotrophin 6 beta (pseudogene) 1496419 4911 NG_000019,AC008687,S41540 AAB22780 GDB:135719 neurotrophin 6, beta pseudogene pseudo 1350644 NTF6G neurotrophin 6 gamma (pseudogene) 1496419 4912 NG_000019,AC008687,S41541 AAB22781 GDB:135720 neurotrophin 6, gamma pseudogene pseudo 1319554 NTHL1 nth endonuclease III-like 1 (E. coli) DNA N-glycosylases, or apurinic/apyrimidinic lyases, of the endonuclease III family, such as NTHL1, initiate DNA base excision repair of oxidized ring saturated pyrimidine residues (Ocampo et al., 2002 [PubMed 12167705]).[supplied by OMIM] 1580863 15260972,10882850,15358233,9831664,10583946,11937636,8990169,12531031,18307537,17923696,17353931,17150535,16446124,16111924,15616553,15533839,15489334,14734554,14522981,12519758,12477932,12167705,12144783,12140329,11328882,9927729,9743625,9705289,9045706,8611553 4913 NG_005895,AB014460,AC005600,AC093513,AF498098,CH471112,AB001575,BC000391,BC003014,CR597616,CR625882,U79718,U81285,NM_002528,Y09687 NP_002519,BAA32695,AAC34209,AAM11786,EAW85562,BAA19413,AAH00391,AAH03014,AAB41534,AAC51136,CAA70865,P78549 Hs.66196 GDB:9837794 NTH1|OCTS3 protein-coding 735501 NTN1 netrin 1 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. 1580863 18400890,18353983,18253061,16203981,16181408,16158190,15811950,15574733,15573119,15491747,15343335,14602071,12810718,12636918,11356879,11048721,10996153,9950216,8978605,8861902 9423 NM_004822,AC005695,AC090610,CH471108,BC092429,U75586 NP_004813,EAW90032,AAD09221,O95631 Hs.660885 GDB:9956663 NTN1L protein-coding 732796 NTN2L netrin 2-like (chicken) 1580863 9143507,12471613,10634642,10477713,10366627,9887257,8828041 4917 NM_006181,AC106820,CH471112,U86758,AF103353,AF103379,AF103383,AF103696,AJ239369,U86759 NP_006172,EAW85504,AAC51246,AAD20522,AAD16550,AAD16554,AAD16756,CAB37162,AAC51247,O00634 Hs.158336,Hs.449621,Hs.535669,Hs.551925,Hs.695964 GDB:5822916 protein-coding 1348678 NTN4 netrin 4 NTN4 belongs to a family of proteins related to laminins (see LAMA1, MIM 150320) Koch et al. (2000) [PubMed 11038171].[supplied by OMIM] 17545519,15519678,15489334,14702039,12477932,11038171,16189514 59277 NM_021229,AC008128,AC090001,CH471054,AF119916,AF278532,AF297711,AK024691,AK026833,AK226070,AK290591,AL137540,AL833767,AY330211,BC013591,BC136798,BC136799,BI549738 NP_067052,EAW97544,EAW97545,AAF69670,AAG30822,AAG53651,BAB14964,BAF83280,CAB70800,CAH56243,AAP92113,AAH13591,AAI36799,AAI36800,Q9HB63 Hs.201034 GDB:10796983 FLJ23180|PRO3091 protein-coding 1350531 NTNG1 netrin G1 Netrin G1 (NTNG1) belongs to a conserved family of proteins that act as axon guidance cues during vertebrate nervous system development (Nakashiba et al., 2000 [PubMed 10964959]).[supplied by OMIM] 14595443,17903671,16710414,16502428,15901489,15870826,15705354,15508520,15494819,15489334,15340161,12975309,12477932,10964959,10231032 22854 BC030220,BX538348,AB023193,AY358365,AY764260,AY764261,AY764262,AY764263,AY764264,AY764265,AY764266,AY764267,AY781194,NM_014917,CR594836,NM_001113226,NM_001113228,AC114491,AL513187,AL590427,CH471156 AAW47415,AAH30220,BAA76820,AAQ88731,AAW47407,AAW47408,AAW47409,AAW47410,AAW47411,AAW47412,AAW47413,AAW47414,CAD98143,Q5ICN7,Q5IEC1,Q5IEC2,Q5IEC3,Q5IEC4,Q5IEC5,Q5IEC6,Q5IEC7,Q5IEC8,Q9Y2I2,NP_055732,NP_001106697,NP_001106699,EAW51249,EAW51250 Hs.657434 GDB:11508555 KIAA0976|Lmnt1 protein-coding 1316073 NTNG2 netrin G2 1580863 11804778,16189514,15705354,15489334,12975309,12477932,12168954,11347906,9110174,8619474 84628 NM_032536,AL159997,AL353631,CH471090,AB058760,AF131842,AY358165,BC013770 NP_115925,CAI40855,CAI40856,EAW87994,EAW87995,EAW87996,BAB47486,AAD20057,AAQ88532,AAH13770,O95898,Q5T7C7,Q5T7C8,Q96CW9 Hs.163642 KIAA0625|KIAA1857|LHLL9381|Lmnt2|MGC21884|NTNG1|bA479K20.1 protein-coding 734274 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. 1580863 9290260,1695324,8957089,11520933,16805430,16939974,7806500,9182757,10629055,16284401,11157096,18270328,18221326,18203754,18072090,18005706,17971243,17850422,17673289,17531524,17447019,17261673,17196528,17143529,16996570,16935282,16919030,16862449,16860569,16786155,16710414,16704535,16701206,16586073,16546643,16483615,16373086,16275928,16181609,16138253,16091303,15961390,15950763,17667845,17635673,17671718,17619016,17617666,10708759,10679771,10567924,10490030,10443680,10391209,10388563,10330344,10329710,10233776,10103137,10092678,10090906,9927421,9867838,9856458,9507002,9341772,9282923,9099755,8889548,8696348,8524391,8384556,8325889,8226808,8155326,7823156,7657647,7601468,7565764,7541035,7510697,7509449,2966065,2927393,2869410,1850821,1849459,1715690,1706478,1656363,1532241,1463607,8577769,8943228,8610109,7542991,15870692,15753086,15637590,15523689,15489334,15488758,15362372,15273715,15167895,15159601,15024033,14988025,14985763,14691455,14642435,12536040,12477932,12446789,12406349,12237455,12210794,12208732,12150951,12102460,11859925,11850535,11733534,11705863,11668614,11466412,11310631,11251075,11244088,11159935,11150334,11147812,11071380,10982191,10861667,10748052 4914 Y09030,Y09031,Y09032,Y09033,Y09034,Y09035,Y09036,AK126428,AK290759,BC062580,BM685020,CR625585,CR936794,M23102,NM_001007792,NM_002529,NM_001012331,NG_007493,AB019488,AL158169,AY321513,CH471121,Y09028,Y09029 BAF83448,AAH62580,AAA36770,P04629,Q00182,Q04227,NP_001007793,NP_002520,NP_001012331,BAA34355,CAH70010,AAP88292,EAW52900,EAW52901,EAW52902 Hs.406293 GDB:127897 DKFZp781I14186|MTC|TRK|TRK1|TRKA|p140-TrkA trk precursor 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 731305 NTRK2 neurotrophic tyrosine kinase, receptor, type 2 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternate transcriptional splice variants encoding different isoforms have been found for this gene. 1580863,1626135,1626133 1710174,16805430,16939974,18428117,18253057,18203754,18201274,17971243,17918233,17889702,17884018,17873329,17720314,17616679,17611278,17570738,17200667,17008023,16964397,16862449,16786155,16713586,16713371,16701206,16648150,16051641,16034442,15838534,15657181,15647480,15637590,15494731,15489334,15389758,16647839,16335952,15329723,15304335,15167895,15024057,14702039,12921913,12912764,12808116,12719654,12477932,12471037,12419535,12367511,12237455,12074588,11855816,11849294,11836532,11798182,11738045,11432792,11251075,11162451,11157096,10533983,10388563,10386953,9927421,9856458,9648856,9573364,9507002,9312147,9195161,8895847,8621424,7936202,7823156,7789988,7759111,7679912,7574684,1645620,11263982,10631974,10490030 1626135,1626133 4915 NM_001018064,NM_001018065,NM_001018066,NM_001007097,AF410902,AL390777,AL445532,AL596132,CH471089,AB209118,NM_006180,AF086101,AF400441,AF410898,AF410899,AF410900,AF410901,AF508964,AJ420458,AK092267,AK123824,AK289904,AL533181,AL713745,AL833196,AW235842,BC031309,BC031835,BC075804,BE466753,BX649001,S76473,S76474,U12140,X75958 NP_006171,NP_001018074,NP_001018075,NP_001018076,NP_001007098,AAL67968,CAH72197,EAW62687,EAW62688,EAW62689,EAW62690,EAW62691,EAW62692,EAW62693,BAD92355,AAK92490,AAL67964,AAL67965,AAL67966,AAL67967,AAM77876,BAF82593,AAH31835,AAB33109,AAB33110,AAC51371,CAA53571,Q16620,Q59GJ1,Q5VTD4,Q5VVP4,Q5VWE5,Q8WXJ4,Q8WXJ5,Q8WXJ7,Q8WXJ8 Hs.494312 GDB:127898 GP145-TrkB|TRKB protein-coding 1354062 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. 1580863 7806211,18428117,18367154,18347002,18203754,17971243,16941478,16862449,16826429,16786155,16648236,16647839,16537434,15932601,15312164,15247919,15198123,15167895,15167446,14668342,12927579,12477932,12471037,12450792,12399943,12237455,12034707,11877382,11205744,11157096,10764727,10027399,9927421,9856458,9778053,9648868,9488719,9462753,9197281,9195161,9110174,8895847,8619474,8344249,7828539,7823156,7657612,1653651,1326636,16189514 4916 NM_001012338,NM_001007156,AC009711,AC011966,AC021677,AJ224521,CH471101,AF052184,AF058389,AF125808,AI613045,AL134171,AY065844,BC013693,BC128249,BG741347,BI962878,BM887782,BQ893817,BT007291,CB053605,CK903553,S76475,NM_002530,S76476,U05012 NP_002521,NP_001012338,NP_001007157,CAA12029,EAX01989,EAX01990,EAX01991,EAX01992,EAX01993,AAC97478,AAF19762,AAL40893,AAH13693,AAP35955,Q8WWU8,Q96CY4,AAB33111,AAB33112,AAA75374,O95192,Q16288 Hs.410969,Hs.706364 GDB:127899 TRKC|gp145(trkC) protein-coding 1319092 NTS neurotensin This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. 1580863 8954810,18048355,17870207,17644423,17570131,17289170,17068197,16984735,16519961,16087676,15623535,15489334,15358593,15123666,14743366,14699144,12609826,12531461,12477932,12473660,12150975,11922768,11912133,11906607,11815627,11811984,11801734,11559354,11278902,9756851,9530155,8869556,8770919,8719037,8075503,7836437,7791794,6754769,3670596,3525564,1436492,409699 4922 NM_006183,AC016993,AF157683,CH471054,S47339,AF157682,AW571577,BC010918,CR541936,U91618 NP_006174,AAP37615,EAW97400,EAW97401,AAB23934,AAP37614,AAH10918,CAG46734,AAB50564,P30990,Q6FH20,Q86U50 Hs.80962 GDB:120244 NMN-125|NN|NT|NT/N|NTS1 protein-coding 1314483 NTSR1 neurotensin receptor 1 (high affinity) Neurotensin receptor 1 belongs to the large superfamily of G-protein coupled receptors. NTSR1 mediates the multiple functions of neurotensin, such as hypotension, hyperglycemia, hypothermia, antinociception, and regulation of intestinal motility and secretion. 1580863,1358670 8381365,9763490,17289170,17018595,16299383,16087676,15764810,14962098,14699144,12360476,12150975,11906607,11780052,11559354,11279203,10930533,10690540,10514511,10390649,8995438,8719037,8075503 1358670 4923 NM_002531,AL035669,AL357033,CH471077,CS174241,AY429106,BC040711,X70070 NP_002522,CAC12747,CAC14923,EAW75345,CAJ34549,AAR07901,CAA49675,P30989,AAI52810 Hs.590869 GDB:138130 NTR protein-coding 733351 NTSR2 neurotensin receptor 2 The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. 70631,1580863 8795617,9851594,15489334,15383539,12477932,12150975,12065070,12036977,11801734,11564178,10390649,8647296 70631 23620 NM_012344,AC106875,AC110754,CH471053,AY429107,BC022501,BC037776,BI758259,Y10148 NP_036476,AAY14691,AAX82018,EAX00922,EAX00923,EAX00924,AAR07902,AAH22501,AAH37776,CAA71233,O95665,Q53QQ5,Q57Z87,ABM84215,ABW03663,ABW03314,ABW03604 Hs.131138 GDB:10795918 NTR2 protein-coding 1605098 NUAK1 NUAK family, SNF1-like kinase, 1 16306228,17353931,18254724,16488889,16044163,15354411,15273717,15060171,14976552,14702039,13679856,12409306,9628581 9891 NM_014840,AC010182,AC011595,CH471054,AB011109,AK027302,AK289992,BC152462,BG831390,BQ694341,CK001516,R61142 NP_055655,EAW97768,EAW97769,BAA25463,BAB55026,BAF82681,AAI52463,O60285,AAI60165 Hs.524692 ARK5|KIAA0537 protein-coding 1603952 NUAK2 NUAK family, SNF1-like kinase, 2 14976552,14575707,15345718,11256614,18023418,16381901,15761153,15489336,15489334,14702039,12477932,11284715,11230166,11076863 81788 NM_030952,AC098933,CH471067,CQ782778,AK074830,AL136891,BC017306,BX537564,CR749209 NP_112214,EAW91549,CAF86008,BAC11234,CAB66825,AAH17306,CAH18066,Q0JUM9,Q68E04,Q9H093,CAL37782 Hs.497512 DKFZP434J037|DKFZp686F01113|FLJ90349|SNARK protein-coding 1602112 NUB1 negative regulator of ubiquitin-like proteins 1 NUB1 interacts with and negatively regulates NEDD8 (MIM 603171), a ubiquitin-like protein that covalently conjugates to cullin (see MIM 603134) family members.[supplied by OMIM] 16877356,16707496,15489334,15347646,15146197,15081406,15009209,14757770,14638743,12853948,12816948,12690205,12477932,12374762,11585840,11259415,10508479,14499622 51667 NM_016118,AACC02000108,AC005486,AF108083,CH471173,AF155099,AF300717,AF459743,AK026433,AY129295,BC034716,BC046354,CN258712,CR592734,CR593223,CR606629,CR607018,CR608975,CR611732,CR626423 NP_057202,EAL24511,AAS02030,AAC82474,EAW54000,EAW54001,EAW54002,EAW54003,AAD42865,AAK21001,AAO14547,AAN01355,AAH46354,Q75MR9,Q9Y5A7 Hs.647082 BS4|NUB1L|NYREN18 protein-coding 1321458 NUBP1 nucleotide binding protein 1 (MinD homolog, E. coli) NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM] 1580863 7926816,15342556,12477932,10915798,10486206,9373149,8125298 4682 NM_002484,AC074136,CH471112,AK223204,BC100290,BC109322,BC109323,BP216107,CR600910,CR601815,CR613650,CR622882,U01833 AAI00291,NP_002475,EAW85178,BAD96924,AAI09323,AAI09324,AAA61932,P53384 Hs.81469 GDB:450836 MGC117406|MGC130052|MGC130053|NBP|NBP1 protein-coding 1312953 NUBP2 nucleotide binding protein 2 (MinD homolog, E. coli) NUBP2 is a member of the NUBP/MRP gene subfamily of ATP-binding proteins (see NUBP1; MIM 600280) (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM] 1580863 10486206,15489334,14702039,12970194,12477932 10101 NM_012225,AC012180,AL031724,CH471112,AF118394,AK001023,AK093593,BC002768,BC008005,BX648907,CR590570,CR597386,CR616284,CR618786,CR619719 NP_036357,CAC36077,EAW85613,EAW85614,EAW85615,EAW85616,EAW85617,AAD45242,BAA91471,AAH02768,AAH08005,Q2YS46,Q9Y5Y2 Hs.256549 GDB:9955220 CFD1|NUBP1 protein-coding 1343672 NUBPL nucleotide binding protein-like 15489334,15342556,14702039,12477932,8889548 80224 BX248028,BX648419,CT002019,NM_025152,AL163973,AL355112,AL359400,AL390798,CH471078,AK022722,AK093789,BC024919,BM978769,BP274976 CAD62349,Q8TB37,NP_079428,EAW65941,EAW65942,EAW65943,BAB14203,AAH24919 Hs.288981 C14orf127|FLJ12660 protein-coding 734023 NUCB1 nucleobindin 1 1580863 1520323,15308636,18154733,17686766,17390015,15489334,15287731,14702039,12477932,11752444,10915798,9647645,9589460,9373149,8661046,8643612,8125298,7589456,16189514 4924 NM_006184,AC026803,CH471177,U31336,U31337,U31338,U31339,U31341,U31342,AK025458,AK097790,AK222805,AK292066,BC002356,BC015787,BT009828,BX647291,BX647718,CR599627,CR604440,CR622810,M96824,U31340 NP_006175,EAW52411,EAW52412,AAB60431,BAD96525,BAF84755,AAH02356,AAH15787,AAP88830,AAA36383,Q02818,Q53GX6,Q96BA4 Hs.631602 GDB:3900285 DKFZp686A15286|FLJ40471|NUC protein-coding 734220 NUCB2 nucleobindin 2 Nucleobindin-2 is a calcium-binding EF-hand protein.[supplied by OMIM] 1580863 7811391,15308636,18154733,16407280,16344560,14702039,12477932,12087473,11749975,10915798,10381334,9639681,12909641 4925 NM_005013,AC107956,CH471064,AB231311,AF052642,AF052643,AF052644,AF450266,AK093209,AK097398,AK128739,AK291507,BC111556,DA816251,EU039831,EU039832,EU039833,X76732 NP_005004,EAW68439,EAW68440,EAW68441,BAE78964,AAC06300,AAC06301,AAC06302,AAM73810,BAF84196,ABS85532,ABS85533,ABS85534,CAA54148,P80303,Q2L696 Hs.654599 GDB:3900287 NEFA nefa precursor protein-coding 736162 NUCKS1 nuclear casein kinase and cyclin-dependent kinase substrate 1 17604136,17081983,16964243,16344560,16097034,15489334,15381070,15345747,15302935,14702039,12477932,12413487,12368243,11298763,9373149,8125298 64710 AF130080,AF306939,AJ012584,AK025133,AK056578,AK095855,AK225228,AY823399,BC000805,BC016311,BC025313,BC039469,BC067224,BC107728,CR457339,CR597568,CR598072,DB004374,NM_022731,AC119673,AJ237668,CH471067,AB049824 BAC06820,AAG35506,CAC20408,BAB15076,AAV83925,AAH00805,CAG33620,Q54AC0,Q6IA16,Q8WYF8,Q9H1E3,Q9H396,ABM82144,ABM85327,NP_073568,CAC20412,EAW91578,EAW91579 Hs.632458,Hs.708366 FLJ21480|FLJ32016|FLJ38536|JC7|NUCKS nuclear ubiquitous casein kinase 2 protein-coding 731477 NUDC nuclear distribution gene C homolog (A. nidulans) NudC was first identified as a regulator of nuclear movement in the asexual reproductive cycle of the filamentous fungus Aspergillus nidulans. Human NUDC is a nuclear movement protein that associates with dynein (see DYNC1H1; MIM 600112) (Aumais et al., 2003 [PubMed 12679384]).[supplied by OMIM] 1358139,1580863 17353931,10210332,17658515,17081983,16860740,16710414,16381901,16088917,15489336,15489334,14676831,12852857,12679384,12477932,11734602,11256614,11230166,11076863,10453739,9601647,16189514,14743216 10726 NM_006600,AL356390,CH471059,AB019408,AF086922,AF100760,AF125465,AF130736,AF241788,AL136725,BC002399,BC003132,BC006147,BC007280,BC015153,BC021139,CR590748,CR597418,CR598417,CR612636,CR612818,CR615789,CR619132,CR621608 NP_006591,EAX07780,BAA76628,AAP97152,AAD43024,AAD39921,AAD30517,AAG44476,CAB66659,AAH02399,AAH03132,AAH06147,AAH07280,AAH15153,AAH21139,Q0JTN3,Q9H2R7,Q9Y266,CAL37600,CAL38129 Hs.263812 GDB:9958220 HNUDC|MNUDC|NPD011 nuclear distribution gene c homolog (aspergillus) protein-coding 1349940 NUDCD1 NudC domain containing 1 737633 14688378,12477932,11416219 737633 84955 NM_032869,AC021237,CH471060,AF283301,AF283302,AF521133,AK027897,AL832317,BC000967,BC031258,BC043406,CR602321,CR603601,CR613260,CR618397 NP_116258,EAW91924,EAW91925,EAW91926,AAK73017,AAM69373,Q96RS6,AAQ08823,BAB55439,CAD38612,AAH00967,AAH31258,AAH43406 Hs.558577 CML66|FLJ14991 protein-coding 1353286 NUDCD2 NudC domain containing 2 737633 15489336,11256614,16381901,15489334,12477932,11230166,11076863 737633 134492 NM_145266,AC112205,CH471062,BC017934,BX538290 NP_660309,EAW61527,AAH17934,CAD98085,Q0JT48,Q0JV46,Q8WVJ2,CAL37614,CAL38316 Hs.140443 DKFZp686E10109 protein-coding 1344595 NUDCD3 NudC domain containing 3 The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. 16754861,16189514,15489334,15146197,14702039,12853948,12690205,12477932,11181995,10470851,9847074 23386 NM_015332,AC004453,CH236960,CH471128,AB028991,AK024226,AK025555,AK026126,AK124729,AK127163,AW138459,BC003691,BC011673,BC017657,BC035014,CN386226,CR598639,CR618049,CR620264 NP_056147,AAQ96892,EAL23754,EAW61099,EAW61100,EAW61101,BAA83020,BAB14855,BAC85934,AAH03691,AAH11673,AAH35014,Q6ZVC8,Q8IVD9 Hs.488171 KIAA1068|NudCL protein-coding 1352388 NUDCP1 nuclear distribution gene C homolog (A. nidulans) pseudogene 1 10453739 10790 NG_001230,AC012066,AF125466 GDB:9958287 pseudo 1343726 NUDCP2 nuclear distribution gene C homolog (A. nidulans) pseudogene 2 10453739 10789 NG_001229,AC009948,AF125467 GDB:9958285 pseudo 731881 NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. 1580863 7713500,17353931,8226881,18270339,18091433,17917452,17417778,17252231,17207658,17142918,16774934,16607562,16600130,15931596,15730954,15654505,15516784,15489334,15449173,15133035,15095864,14634838,12957652,12903117,12857738,12757855,12717453,12690205,12619034,12477932,12051941,12051680,11852070,11756418,11572992,11136354,10536140,9211940,7782328,7713494 4521 NM_198949,NM_198948,NM_002452,NM_198952,NM_198950,NM_198954,NM_198953,AC004971,CH236953,CH471144,D38594,DQ230907,AB025233,AB025234,AB025235,AB025236,AB025237,AB025238,AB025239,AB025240,AB025241,AB025242,AK026631,BC014618,BC022818,BC040144,BC051375,BC065367,BM927392,CR407655,CR623608,D16581 NP_945186,NP_002443,NP_945190,NP_945188,NP_945192,NP_945191,EAL23948,EAL23949,EAW87225,EAW87226,EAW87227,EAW87228,EAW87229,EAW87230,EAW87231,EAW87232,BAA07601,NP_945187,ABB02181,BAA83791,BAA83792,BAA83793,BAA83794,BAA83795,BAA83796,BAA83797,BAA83798,BAA83799,BAA83800,AAH14618,AAH40144,AAH51375,AAH65367,CAG28583,BAA04013,P36639,Q6LES7,Q7Z7N6,Q8IV95 Hs.534331 GDB:269868 MTH1 mutt (e. coli) human homolog (8-oxo-dgtpase) protein-coding 1352246 NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 NUDT10 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM] 15772651,15489334,12477932,12370170,12121577,12105228 170685 NM_153183,AL158055,CH471180,AF469196,AK291952,BC049383,BC050700 NP_694853,CAI40295,EAW89910,EAW89911,AAM64113,BAF84641,AAH49383,AAH50700,Q8NFP7 Hs.375178 GDB:11508429 APS2|DIPP3a|hDIPP3alpha protein-coding 1343668 NUDT11 nudix (nucleoside diphosphate linked moiety X)-type motif 11 NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM] 1580863 11256614,16381901,15772651,15489336,15489334,15345747,14702039,12477932,12370170,12121577,12105228,11076863 55190 NM_018159,AL158055,CH471180,AK001490,BC009942,BX419815 NP_060629,CAI40294,EAW89906,BAA91720,AAH09942,Q0JVH6,Q96G61,CAL37484 Hs.200016 GDB:11508431 APS1|ASP1|DIPP3b|DIPP3beta|FLJ10628|hDIPP3beta protein-coding 1322074 NUDT12 nudix (nucleoside diphosphate linked moiety X)-type motif 12 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM] 1580863 11256614,16381901,15489336,15489334,14702039,12790796,12477932,11230166,11076863 83594 NM_031438,AC008519,CH471086,AK098066,AL136592,BC026748,BC041099,BC042967,BU621954,CB131118 NP_113626,EAW49073,CAB66527,AAH26748,AAH41099,Q0JVQ1,Q9BQG2,CAL37409 Hs.434289 GDB:11510174 DKFZP761I172 protein-coding 1349007 NUDT13 nudix (nucleoside diphosphate linked moiety X)-type motif 13 15489334,15164054,12477932,11329013 25961 AC016394,AL731721,CH471083,AL050114,BC031224,BC038833,BC046173,BG191548,CR599355,NM_015901,CR619117 NP_056985,CAI14547,CAI14548,CAI14549,EAW54471,EAW54472,EAW54473,EAW54474,EAW54475,CAB43279,AAH31224,AAH46173,Q4G134,Q86X67 Hs.533657 GDB:11510176 protein-coding 1321575 NUDT14 nudix (nucleoside diphosphate linked moiety X)-type motif 14 UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003 [PubMed 12429023]).[supplied by OMIM] 1580863 12620389,15489334,12508121,12477932,12429023 256281 NM_177533,AF111170,AL512355,CH471061,AB087802,AK128196,BC041584 NP_803877,AAD15563,EAW81902,EAW81903,EAW81904,EAW81905,BAC65455,AAH41584,O95848 Hs.526432 UGPP|UGPPase protein-coding 1317982 NUDT15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 1580863 15489334,15057823,14702039,12767940,12477932 55270 NM_018283,AL158196,CH471075,AK001818,BC064607,BC107875,BC133015,BC133017,CR599539 NP_060753,CAI17017,EAX08782,BAA91925,AAH64607,AAI07876,AAI33016,AAI33018,Q9NV35 Hs.144407 FLJ10956|MGC104352|MTH2|RP11-90M2.1 protein-coding 1347227 NUDT16 nudix (nucleoside diphosphate linked moiety X)-type motif 16 737633,1580863 17567574,15489334,14702039,12477932 737633 131870 NM_152395,AC010210,CH471052,AK055827,BC009546,BC031215 NP_689608,EAW79210,BAB71024,AAH09546,AAH31215,Q96DE0 Hs.591313 FLJ31265 protein-coding 1342997 NUDT16L1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 15635413,15489334,14702039,12477932,11805099 84309 Q9BRJ7 NM_032349,AC023830,CH471112,AK092642,BC006223,CR625044 NP_115725,EAW85277,EAW85278,BAC03933,AAH06223,Q9BRJ7 Hs.592084 MGC11275|SDOS protein-coding 1603358 NUDT16P nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 12477932 152195 NR_002949,AC010210,CH471052,AK000532,BC015593 EAW79211,AAH15593,Q6PJG7 Hs.380350 FLJ20525 pseudo 1350013 NUDT17 nudix (nucleoside diphosphate linked moiety X)-type motif 17 737633 16710414,14702039,12477932,8889549 737633 200035 NM_001012758,AL160282,CH471244,AA287243,AK091752,BC046352,BG820863,CR624046 NP_001012776,EAW71432,EAW71433,P0C025 Hs.585066 FLJ34433 protein-coding 1605623 NUDT18 nudix (nucleoside diphosphate linked moiety X)-type motif 18 16713569,16344560,16189514,12477932 79873 NM_024815,AC091171,AC105206,CH471080,AK026147,AK124446,BC016902,CR607168,CR622192,DA015404 NP_079091,EAW63719,BAB15376,BAC85853,AAH16902,Q6ZVK8 Hs.527101 FLJ22494 protein-coding 1602031 NUDT19 nudix (nucleoside diphosphate linked moiety X)-type motif 19 16344560,16185196 390916 NM_001105570,AC008736,CA438814,DA658958,DN998957 NP_001099040,A8MXV4 Hs.203961 RP2 protein-coding 1352613 NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and three transcript variants, all encoding the same protein, have been identified. 1580863 12767470,12673352,12477932,10620341,9650578,9479504,8810257,8381042,7767787,1652465,11738085,7487923,10452553,15772762,15596429 318 P50583,Q5T589 NM_001161,NM_147172,NM_147173,AL353662,AL356494,CH471071,AA398857,BC004926,BG622439,BM802700,U30313 NP_001152,NP_671701,NP_671702,CAI15964,EAW58461,EAW58462,EAW58463,AAH04926,AAC50277,P50583,Q5T589,ABM83899,ABM87220 Hs.493767 GDB:6054177 APAH1|MGC10404 protein-coding 1313996 NUDT21 nudix (nucleoside diphosphate linked moiety X)-type motif 21 The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. 1580863 8626397,11716503,14561889,15169763,12226669,11256614,17098938,16713569,16381901,16189514,16169070,15635413,15592455,15489336,15489334,15231747,14690600,12477932,11230166,11076863,11060040,9659921,17353931,14743216 11051 AC092140,CH471092,AJ001810,AL535307,BC001403,BX537360,BX647665,CR456919,CR599085,CR603883,CR616196,CR617016,CR621599,CR625053,NM_007006 NP_008937,EAW82859,EAW82860,CAA05026,AAH01403,CAD97606,CAI46057,CAG33200,O43809,Q0JTR5,Q5HYH5,CAL37869,CAL38097,ABM83068,ABM86262 Hs.528834 GDB:9956324 CFIM25|CPSF5|DKFZp686H1588 cleavage and polyadenylation specific factor 5, 25 kda protein-coding 1601846 NUDT22 nudix (nucleoside diphosphate linked moiety X)-type motif 22 15489334,12477932 84304 Q9BRQ3 NM_032344,AP001453,AP006334,CH471076,BC006129,CR602542,CR602818,CR614915,CR615814,CR619666 NP_115720,EAW74204,EAW74205,EAW74206,EAW74207,EAW74208,EAW74209,EAW74210,EAW74211,AAH06129,Q9BRQ3 Hs.656074 MGC13045 protein-coding 1320933 NUDT3 nudix (nucleoside diphosphate linked moiety X)-type motif 3 NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM] 1580863 9822604,10419486,16189514,16169070,15489334,14574404,12477932,12370170,10585413 11165 NM_006703,AL355855,CH471081,Z98036,AF062529,AF062530,BC007727,BC024593,BG714472,BT019984,BT019985 NP_006694,CAH72222,EAX03781,CAI19715,AAC83224,AAC83225,AAH07727,AAV38787,AAV38788,O95989,ABM84044,ABM87390 Hs.188882 GDB:9957002 DIPP|DIPP1 protein-coding 1320353 NUDT4 nudix (nucleoside diphosphate linked moiety X)-type motif 4 The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. 1580863 10777568,15489334,15252450,12477932,12370170,12121577,11376937,9455484,9373149,8125298 11163 NM_019094,AC025260,AC090050,AC124947,CH471054,AB007956,AF067803,AF191649,AF191650,AF191651,AF191652,NM_199040,AF191653,AF191654,AF191655,AK223497,BC012069,BC051310,BG777287,BM193309,BT020109,BT020110,CB961167,CR602956,CR749445,DQ786307 NP_950241,NP_061967,EAW97475,EAW97476,EAW97477,EAW97478,EAW97479,BAE16985,AAF75563,AAF68855,AAF68856,AAF68857,AAF68858,AAF68859,BAD97217,AAH12069,AAH51310,AAV38912,AAV38913,CAH18283,Q4AEJ6,Q9NZJ9,ABM83125,ABM86320 Hs.591008 GDB:9956995 DIPP2|DIPP2alpha|DIPP2beta|DKFZp686I1281|HDCMB47P|KIAA0487 protein-coding 1343260 NUDT4P1 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 11376937 440672 NR_002212,AL359758,AF311215 Hs.601274 GDB:11503180 pseudo 1344947 NUDT4P2 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2 11376937 170688 AF311216,AK074343 Hs.591008 GDB:11503181 pseudo 1345366 NUDT5 nudix (nucleoside diphosphate linked moiety X)-type motif 5 Nudix hydrolases, such as NUDT5, eliminate toxic nucleotide derivatives from the cell and regulate the levels of important signaling nucleotides and their metabolites (McLennan, 1999 [PubMed 10373642]).[supplied by OMIM] 1580863 10567213,10722730,15592455,15489334,12717453,12477932,11042152,10373642 11164 NM_014142,AC073160,AL512770,CH471072,AF155832,AF161464,AF218818,AK291131,BC000025,BU602000,CR457195,CR591727,CR603893,CR608939,CR619447,CR622275 NP_054861,EAW86320,EAW86321,EAW86322,AAF06734,AAF29079,AAF25479,BAF83820,AAH00025,CAG33476,Q9UKK9 Hs.555956 GDB:9956997 YSA1|YSA1H|hYSAH1 protein-coding 735257 NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 FGF2 (MIM 134920) is a highly conserved, multifunctional heparin-binding growth factor involved in neuroectoderm development, angiogenesis, and wound healing. Elevated levels of FGF2 are associated with proliferation of smooth muscle in atherosclerosis and with proliferation of tumors. The FGF2 antisense gene, NUDT6, may regulate FGF2 expression.[supplied by OMIM] 1580863 7984147,18401527,17681892,17569023,17203973,15489334,15247275,12477932,11801566,11266510,10022609,9406864,7999082 11162 NM_007083,AC021205,CH471056,AB209758,AF019632,AF019633,AK291871,BC009842,BG386740,NM_198041,CB128685 NP_932158,NP_009014,EAX05217,EAX05218,EAX05219,EAX05220,EAX05221,BAD92995,AAD01635,AAD01636,BAF84560,AAH09842,P53370,Q59EQ3,ABM84065,ABM87422 Hs.558459 GDB:9956993 ASFGF2|FGF-2|FGF-AS|FGF2AS|bFGF|gfg|gfg-1 antisense basic fibroblast growth factor protein-coding 1350832 NUDT7 nudix (nucleoside diphosphate linked moiety X)-type motif 7 NUDT7 is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules (Gasmi and McLennan, 2001 [PubMed 11415433]).[supplied by OMIM] 11415433 283927 NM_001105663,AC092134,AC092724,CH471114,AA227330,AA579048,AK026469,BX494638,ES309123 NP_001099133,EAW95596 Hs.282665 GDB:10796208 protein-coding 1319158 NUDT8 nudix (nucleoside diphosphate linked moiety X)-type motif 8 1580863 15489334,14702039,12477932,11415433 254552 NM_181843,AP003385,CH471076,AK123561,BC018644 NP_862826,EAW74660,EAW74661,BAC85646,AAH18644,Q8WV74 Hs.433329 GDB:10796209 FLJ41567 protein-coding 1352650 NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9 1580863 11385575,16860484,16303743,15489334,14702039,12975309,12948489,12897971,12477932,12427752,11825615 53343 NM_024047,NM_198038,AC112250,CH471057,CQ783706,AF265341,AF273028,AK027295,AK074845,AK075408,AY026252,AY359123,BC000542,BI552154,BM544951,BQ446599,BU623625,CR597296,CR604538,CR619203,CR620878,CR626425 NP_076952,NP_932155,EAX05988,EAX05989,EAX05990,CAF86821,AAM46066,AAM46068,BAB55021,BAC11239,BAC11601,AAK07671,AAQ89480,AAH00542,Q8NG26,Q96KB3,Q9BW91 Hs.149500 GDB:10796383 MGC3037|NUDT10 protein-coding 1345944 NUDT9P1 nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1 737633 15489334,12477932,16189514 737633 119369 NR_002779,AL731553,BC029544 AAH29544,Q8N2Z3 Hs.441287 C10orf98|MGC34007|bA56M3.1 pseudo 1317446 NUF2 NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. 15961401,17353931,11266451,17535814,17081983,16710414,16565220,15548592,15489334,15239953,15235793,15062103,14702039,14699129,14654001,14602875,12477932,12438418,11685532,15371340 83540 NM_145697,NM_031423,AL592435,CH471067,AB050577,AB050578,AF326731,AK093348,BC008489,BC021171,BI545465,CR605406,CR619637 NP_663735,NP_113611,EAW90735,EAW90736,EAW90737,BAB59141,BAB59142,AAK01426,BAC04140,AAH08489,AAH21171,Q5SXK4,Q5SXK5,Q9BZD4,ABM84096,ABM87468 Hs.651950 GDB:11505728 CDCA1|NUF2R cell division cycle associated 1 protein-coding 1347229 NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 1580863 15107825,10556305,12941608,17081983,15489334,15057823,12477932,10894927 26747 AF159548,NM_012345,AL354816,AL359706,CH471075,BC001436,BC017745 NP_036477,CAC40689,CAI12865,EAX08719,AAF15315,AAH17745,Q9UHK0 Hs.525006 GDB:10795449 NUFIP protein-coding 1351975 NUFIP1P nuclear fragile X mental retardation protein interacting protein 1 pseudogene 10894927 89761 NG_001030,AL049842 GDB:10796210 pseudo 1606255 NUFIP2 nuclear fragile X mental retardation protein interacting protein 2 14702039,15324660,15144186,12477932,10718198,8889548,12837692,16407062,17081983,16964243,15489334,15345747 57532 NM_020772,AC005412,CH471159,AB037742,AJ493465,AK001838,AK293075,AY232289,BC056662,BC108307,BC129989,BC129990,BM969349 NP_065823,EAW51186,EAW51187,BAA92559,CAD38278,BAF85764,AAP69984,AAI08308,AAI29990,AAI29991,Q7Z417 Hs.462598 182-FIP|82-FIP|FIP-82|FLJ10976|KIAA1321|MGC117262|PIG1 protein-coding 1318746 NUMA1 nuclear mitotic apparatus protein 1 1580863 15537540,1541630,1541636,14718566,18331640,17609108,17401638,17293864,17172455,17108325,17092945,17081983,16964243,16565220,16146802,16076287,15684076,15592455,15561764,15388855,15302935,14737102,12508117,12477932,11956313,11790298,10739661,10023777,9586635,9288109,8505359,8408288,8406455,7004645,11521196,10913114,11781568,12519782,10504299,12080061,11590136,12111331,12239178,10594058,10189366 4926 NM_006185,AF012302,AF110460,AP002490,CH471076,AB208841,AB210007,BC004165,AK290509,BC008345,BC013023,BC027493,BC032228,BC036808,BC043499,BC068539,BC103765,BG771637,CR604035,CR606262,CR613390,Z11583,Z11584,Z14227,Z14228,Z14229 NP_006176,AAC33408,AAD16994,EAW74821,EAW74822,EAW74823,EAW74824,EAW74825,EAW74826,EAW74827,EAW74828,EAW74829,EAW74830,EAW74831,BAD92078,BAE06089,BAF83198,AAH04165,AAH08345,AAH13023,AAH27493,AAH43499,AAI03766,CAA77669,CAA77670,Q14980,Q3SYK8,Q4LE64,Q59HB8,Q7Z757,Q86XH4,Q96HN5,Q9BTE9,Q9UNL7,Q9UPG3 Hs.325978 GDB:137229 NUMA protein-coding 1348962 NUMB numb homolog (Drosophila) The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene. 1334451,1580863 16002321,7596406,18179751,18172499,17609107,17301032,17115028,17081983,16964243,16865239,16508311,16394100,15492044,15489334,14702039,14670962,12942088,12775724,12682059,12646252,12606711,12477932,12011466,11922143,11782429,11752454,11121447,10468633,9632782,9535908,9303539,8755477,7568168,16189514 1334451 8650 NM_003744,NM_001005744,NM_001005743,AC004846,AC005280,AF109907,AL391733,CH471061,AA872908,AF015040,AF108092,AF171938,NM_001005745,AF171939,AF171940,AF171941,AK023670,AK226069,BC020788,BC033824,BC068476,BX248073,BX248775,BX248781,BX647137,CR600039,L40393 NP_001005745,NP_003735,NP_001005744,NP_001005743,AAC97962,EAW81100,EAW81101,EAW81102,EAW81103,EAW81104,EAW81105,EAW81106,EAW81107,EAW81108,EAW81109,EAW81110,EAW81111,EAW81112,EAW81113,EAW81114,AAD01548,AAD27959,AAD54279,AAD54280,AAD54281,AAD54282,AAH20788,AAH33824,AAH68476,CAD62362,CAD66582,CAD66588,AAC42000,P49757,Q5D0E5,Q86SW5,Q86SW6 Hs.654609 GDB:9956130 S171 protein-coding 1316854 NUMBL numb homolog (Drosophila)-like 1580863 16713569,9303539,17081983,16899352,15489334,15324660,12477932,12011466,9225980,9169836,8755477,7568168 9253 NM_004756,AC010412,CH471126,AF015041,AK289398,BC001794,BC016160,BI552675,BT009807,U80758 NP_004747,EAW56986,AAD01549,BAF82087,AAP88809,AAB91449,Q9Y4I7,Q9Y6R0 Hs.326953 GDB:9955546 CAG3A|CTG3a|NBL|NUMB-R|NUMBLIKE|NUMBR|TNRC23 protein-coding 732596 NUP107 nucleoporin 107kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 11684705,11564755,12228227,17768364,17363900,17360435,17081983,16964243,16807356,16565220,15557116,15489334,15229283,14702039,12894213,12705868,12552102,12477932,9166401,12802065,15146057 57122 CR600153,CR616821,NM_020401,AC090061,AC124890,CH471054,AJ295745,AK002079,AK055629,AK094183,BC017167,BC017670,BC043343 AAH43343,P57740,Q6PJE1,NP_065134,EAW97194,EAW97195,CAC03716,AAH17167 Hs.524574 NUP84 protein-coding 1317249 NUP133 nucleoporin 133kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. 1580863 16964243,16565220,15557116,15489334,14702039,12705868,12477932,10546895,10395558,9110174,8619474,15146057,11684705,11564755,12228227,17768364,17081983 55746 NM_018230,AL121990,AL139252,AL160004,CH471098,AF052123,AK001676,AK001754,AK022047,AK022572,AK092339,BC020107,CR593569 NP_060700,CAI22009,CAI22010,CAI22011,CAI22353,CAI22354,CAI19047,CAI19048,EAW69899,EAW69900,BAA91829,BAA91885,BAB14106,AAH20107,Q5TA68,Q5TA69,Q5TDI3,Q8WUM0,ABM85194,ABW03687 Hs.12457 GDB:11506353 FLJ10814|MGC21133|hNUP133 protein-coding 731840 NUP153 nucleoporin 153kDa Nuclear pore complexes are extremely elaborate structures that mediate the regulated movement of macromolecules between the nucleus and cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are pore complex-specific glycoproteins characterized by cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. The protein encoded by this gene has three distinct domains: a N-terminal region within which a pore targeting domain has been identified, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. 1580863 11777942,11598013,11574060,11567018,11266456,11238447,11073998,11024021,10749866,10668806,10629106,10202161,10069809,9847314,9275187,9114010,15522285,14578343,12138183,11896061,8110839,12228227,18068677,17916694,17615301,17426026,17081983,16964243,16543150,15659641,15632149,15302935,14718558,12917407,12802065,12477932,12192048,12191473,12163599 9972 NM_005124,AL138724,AL138824,AL157776,CH471087,AB210024,AW269393,BC035502,BC052965,Z25535 NP_005115,CAI40945,CAI12246,CAI16393,EAW55384,EAW55385,BAE06106,AAH52965,CAA80982,P49790,Q4LE47,Q5T9I7,Q7Z743 Hs.601591,Hs.633334 GDB:9958538 HNUP153|N153 nucleoporin 153kd protein-coding 734441 NUP155 nucleoporin 155kDa Nucleoporins are the main components of the nuclear pore complex (NPC) of eukaryotic cells. They are involved in the bidirectional trafficking of molecules, especially mRNAs and proteins, between the nucleus and the cytoplasm. The protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. Two protein isoforms are encoded by transcript variants of this gene. 1580863 10191094,12228227,15703211,15489334,15231748,14702039,14645504,12477932,12034489,9872452,8599106,16189514 9631 NM_153485,NM_004298,AC008832,AC025449,AC117532,AF165926,CH471119,AB018334,AJ007558,AK002103,AL117585,BC039257,BQ937467,BU601425 NP_705618,NP_004289,AAD52966,EAW55957,EAW55958,EAW55959,BAA34511,CAA07553,CAB56007,AAH39257,O75694 Hs.547696 GDB:9957842 KIAA0791|N155 protein-coding 1322303 NUP160 nucleoporin 160kDa NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM] 1580863 11684705,15231747,17353931,12228227,11564755,17363900,17360435,17081983,16807356,16565220,15489334,14702039,12477932,8724849,15146057 23279 NM_015231,AC021443,AC023232,CH471064,AK026236,AL832029,AL832813,BC008700,BC009822,BC125227,BC125228,BX647634,CR606216,D83781 Q12769,Q7Z5X6,NP_056046,EAW67878,EAW67879,EAW67880,EAW67881,EAW67882,EAW67883,BAB15406,AAH08700,AAH09822,AAI25228,AAI25229,BAA12110,Q08AD3 Hs.709345 GDB:9785140 MGC150678|MGC150679 protein-coding 1348104 NUP188 nucleoporin 188kDa 17353931,12228227,17567994,15146197,12477932,11029043,8724849 23511 NM_015354,AL592211,AL672142,CH471090,AK025292,BC005407,BC040352,BC111045,BX537774,CN297641,D79991,DQ656056,DQ656057 NP_056169,CAI12368,EAW87850,EAW87851,EAW87852,EAW87853,AAH05407,AAH40352,AAI11046,CAD97835,BAA11486,Q5SRE5,Q9BS12,AAI60096 Hs.308340 FLJ21639|KIAA0169 protein-coding 1319746 NUP205 nucleoporin 205kDa 1580863 9348540,12228227,15703211,15489334,12477932,9039502,12802065,17353931 23165 AC093107,CH236950,CH471070,BC044255,BC063612,BC073947,BC094868,BC136624,BC146784,CR600008,CR610966,D86978,NM_015135 NP_055950,EAW83855,EAW83856,AAH44255,AAH63612,AAH73947,AAH94868,AAI36625,AAI46785,BAA13214,Q4VBX7,Q6DKH1,Q6P486,Q92621 Hs.632299 C7orf14 protein-coding 1346505 NUP210 nucleoporin 210kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. 1580863 15231747,12228227,16702234,16641997,16565220,16337775,16303743,15710222,15613247,15489334,14702039,14517331,12653556,12477932,11782456,10546895,10469352,10048485,9373149,8672508,8125298,7504063,2195063,2184032 23225 BC020573,NM_024923,AC027124,AC069246,CH471055,AB020713,AK026042,AK074101,AK075545,AK225409,AL117527,BC067089,BC068109 NP_079199,EAW64150,EAW64151,EAW64152,EAW64153,EAW64154,BAA74929,BAB15332,BAB84927,BAC11688,CAB55979,AAH67089,Q8TEM1 Hs.475525 FLJ22389|GP210|KIAA0906|POM210 protein-coding 1344758 NUP210L nucleoporin 210kDa-like 16710414,14702039 91181 NM_207308,AL358472,AL513546,AL590431,CH471121,AK125924,AK128000,AK128108,AL133633,AL833964,BX648132 NP_997191,CAI14015,CAI14034,CAH71259,EAW53238,BAC86345,BAC87225,BAC87279,CAB63757,CAD38812,Q5VU65,Q9UF31 Hs.67639 RP11-144B19.1 protein-coding 1316779 NUP214 nucleoporin 214kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. 1580863 11545741,8108440,12191473,12228227,17620317,17296573,17264208,17081983,16943420,16675447,16045929,15361874,15302935,14766228,14671643,12917407,12589057,12477932,12138183,11777942,11551912,11238447,11073998,10668806,10428971,10395558,9847314,9765402,9488438,9166401,9144189,9114010,9049309,8943370,7774911,7584028,7584026,2370860,1549122 8021 NM_005085,AL157938,CH471090,AB159230,AJ420413,AL832609,BC012500,BC045620,BC105998,BM455135,BX537986,D14689,X64228 NP_005076,CAI41109,CAI41111,EAW87960,EAW87961,EAW87962,EAW87963,BAD07398,AAH45620,AAI05999,CAD97946,BAA03515,CAA45535,P35658,Q15010,Q3KQZ0,Q5JUP7,Q5JUP9,Q75R47,Q7Z3C4,Q86XD3 Hs.654530 GDB:9045159 CAIN|CAN|D9S46E|MGC104525|N214 protein-coding 1353367 NUP35 nucleoporin 35kDa This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is part of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. 1580863 12228227,17081983,16964243,16600873,15815621,15703211,15489334,12477932,12196509 129401 NM_138285,AC064871,AC079249,CH471058,AF411516,AF514993,AK289601,AK290760,BC022333,BC035597,BC047029,BC061698,BC111016,BI821231,CR615924,CR619859,CR624044 NP_612142,AAY24198,AAX88896,EAX10948,AAL86379,AAM76704,BAF82290,BAF83449,AAH47029,AAH61698,Q0P6B9,Q8NFH5 Hs.180591 MP44|NP44 protein-coding 1317159 NUP37 nucleoporin 37kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP37 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM] 1580863 12228227,15761153,15489334,15146057,14702039,12477932,12196509 79023 AC079907,CH471054,AF514994,AK026271,BC000861,NM_024057 NP_076962,EAW97688,EAW97689,AAM76705,BAB15422,AAH00861,Q8NFH4 Hs.444276 FLJ22618|MGC5585|p37 protein-coding 1605529 NUP43 nucleoporin 43kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM] 12228227,16381901,15489336,15489334,15146057,14702039,12477932,12196509,11230166,11076863 348995 NM_198887,AJ334828,AL355312,AF514997,AK023349,AK074311,AK095994,BC040121,BC046637,BC047539,BC065028,BG527619,BG567254,BX647097,CB989591 NP_942590,AAM76708,BAB14536,BAB85046,AAH40121,AAH65028,Q0JVA4,Q5VYB6,Q8NFH3,Q8TEA6,CAL37556 Hs.510375 FLJ13287|bA350J20.1|p42 protein-coding 736309 NUP50 nucleoporin 50kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10449902,12228227,17081983,16964243,15489334,15461802,14702039,12477932,12361592,12176322,10891500,10891499,10591208 10762 NM_007172,NM_153645,AL008718,AL050007,CH471138,Z82243,AF107840,AF267865,AK095860,AL389949,AL389950,AL389951,AL704529,BC016055,BC020260,BC028125,BC039468,BC070133,BI461522,CR456533 NP_009103,NP_705931,CAI17944,CAQ08669,CAQ08670,EAW73370,EAW73372,EAW73373,CAI17926,CAQ07369,CAQ07370,CAQ07371,CAQ07372,CAQ07373,CAQ07374,CAQ07375,AAD53401,AAG44734,CAB97527,CAB97528,AAH16055,AAH28125,AAH70133,CAG30419,Q8N6V5,Q9H2I3,Q9NPQ3,Q9UKX7,CAK54564,CAK54863,CAB97529 Hs.475103 GDB:9958250 MGC39961|NPAP60|NPAP60L protein-coding 1353030 NUP50P1 nucleoporin 50 pseudogene 1 145375 NG_002384,AL049869 NUP50P pseudo 1606410 NUP50P2 nucleoporin 50 pseudogene 2 266785 NG_002388,AL133268 pseudo 732578 NUP54 nucleoporin 54kDa The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. 633404 8707840,12228227,16189514,15489334,14702039,12477932,10931946,10546895,10395558,9582382,9373149,8589458,8125298,7531196,2050741 633404 53371 NM_017426,AC110795,AC112719,CH471057,AF157322,AK001517,AK022106,AK222752,AK223352,AL137650,BC012559,BC034226,BX538002,CR624655 NP_059122,EAX05775,EAX05776,EAX05777,AAF67488,BAA91735,BAD96472,BAD97072,CAB70859,CAD97957,Q53FD7,Q53H29,Q7Z3B4,Q9NSY5,AAI56686,ABM86904,ABW03846 Hs.430435 GDB:11506355 MGC13407 nucleoporin p54 protein-coding 1349933 NUP62 nucleoporin 62kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. 1580863 8650207,11852044,8589458,7744965,8618896,10356400,11244088,11755531,15953362,15625236,10373430,8702753,10799545,11013214,11553620,12228227,11256614,1915414,16786527,16730000,16381901,9114010,9102465,8757804,8707840,8537436,8125298,16189514,15522285,15507209,15489336,15489334,14718703,14702039,14667819,12477932,12163599,11310559,11266456,11238447,11230166,11113176,11076863,11073998,10781837,10668806,10395558,10330396,9373149,9367915 23636 NM_153718,NM_153719,NM_016553,NM_012346,AC011452,CH471177,AK000829,AK125857,AK225817,AL162061,BC003663,BC014842,BC050717,BC095410,BC101104,BC101105,BC101106,BC101107,CB961185,CR541721,X58521 NP_714940,NP_714941,NP_057637,NP_036478,EAW52576,EAW52577,EAW52578,EAW52579,CAB82399,AAH03663,AAH14842,AAH95410,AAI01105,AAI01106,AAI01107,AAI01108,CAG46522,CAA41411,P37198,Q0JS54,Q8WYU3,CAL38660,ABM83517,ABM87856,AAH50717 Hs.574492 GDB:11502476 DKFZp547L134|FLJ20822|FLJ43869|IBSN|MGC841|SNDI|p62 protein-coding 1606555 NUP62CL nucleoporin 62kDa C-terminal like 16189514,15772651,15489334,14702039,12477932 54830 CH471120,AK000137,BC016327,BC017799,CR605049,NM_017681,AL136112,AL390039 CAC19637,CAI41568,CAI41569,EAX02718,EAX02719,EAX02720,EAX02721,BAA90968,AAH16327,AAH17799,Q5JSN5,Q9H1M0,NP_060151 Hs.163629 FLJ20130|RP13-383K5.2 protein-coding 1323659 NUP85 nucleoporin 85kDa Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP85 is part of one such subcomplex, Nup107-160. 12228227,17395051,15995708,15146057,14702039,12477932,12196509,14767062,16189514,10893222,7592789,12706117 79902 NM_024844,AC022211,CH471099,AF498261,AF514995,AK022611,AK124501,AL833893,BC000697,CR614721 NP_079120,EAW89251,AAM18528,AAM76706,BAB14130,CAD38749,AAH00697,Q9BW27 Hs.362817 GDB:11415823 FLJ12549|Nup75 pericentrin 1 protein-coding 733611 NUP88 nucleoporin 88kDa The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. 1580863 9049309,12228227,18068677,17081983,17007055,16964243,16675447,15489334,15300515,14999780,12589057,12477932,12094380,11248054,11073820,10967423,10554006,10395558,9488438,9373149,9205132,8125298 4927 NM_002532,AC004148,CH471108,AK225247,BC000335,BI552947,Y08612 NP_002523,EAW90340,EAW90341,EAW90342,AAH00335,CAA69904,Q99567 Hs.584784 GDB:9836524 MGC8530 protein-coding 1323029 NUP93 nucleoporin 93kDa 17353931,12228227,16286466,15489334,15009096,14702039,12477932,9531546,9348540,7788527,12802065 9688 NM_014669,AC012181,AC106779,AC127456,CH471092,AF086282,AK056637,AK292262,BC034346,CR612078,CR612276,CR624290,D42085 NP_055484,EAW82887,BAF84951,AAH34346,BAA07680,Q8N1F7 Hs.276878 KIAA0095|MGC21106 protein-coding 733793 NUP98 nucleoporin 98kDa Signal-mediated nuclear import and export proceed through the nuclear pore complex (NPC), which is comprised of approximately 50 unique proteins collectively known as nucleoporins. The 98 kD nucleoporin is generated through a biogenesis pathway that involves synthesis and proteolytic cleavage of a 186 kD precursor protein. This cleavage results in the 98 kD nucleoporin as well as a 96 kD nucleoporin, both of which are localized to the nucleoplasmic side of the NPC. Rat studies show that the 98 kD nucleoporin functions as one of several docking site nucleoporins of transport substrates. The human gene has been shown to fuse to several genes following chromsome translocatons in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. 1580863,737758 12589057,12477932,12191480,12138901,12112533,12082612,11986249,11950939,11830496,11809937,11782354,11684705,11564755,11493482,11248057,11238447,11106761,10875935,10668806,10556215,10209021,9858599,9847314,9166830,9144189,9114010,8943370,8707840,8563754,8563753,12802065,17353931,15629720,9348540,7736573,15229283,12228227,10087256,18287282,18045934,17589499,17442773,17287853,17178874,17081983,16964243,16861351,16565220,16286466,15951287,15725483,15681849,15489334,15454493,15359631,15302935,15207818,14966272,14718558,14561764,14554087,14517296,12970787,12931227 737758 4928 BG773331,BT007349,CR591489,EF071958,U41815,NM_139132,NM_016320,NM_005387,NM_139131,AB038344,AC060812,AC090587,CH471158,AB040538,AF071076,AF071077,AF116074,AF231130,AK292882,AL133601,AL137613,BC012906,BC041136 AAH41136,AAP36013,ABK59096,AAC50366,P52948,Q9HDC8,NP_624358,NP_057404,NP_005378,NP_624357,BAB11850,EAX02561,EAX02562,EAX02563,EAX02564,EAX02565,EAX02566,BAB18537,AAD22395,AAD22396,AAF19342,AAL56659,BAF85571,CAB63736,CAB70842,AAH12906 Hs.524750 GDB:6282070 ADIR2|NUP196|NUP96 nucleoporin 98 protein-coding 1353907 NUPL1 nucleoporin like 1 This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 12228227,15489334,15342556,14702039,12477932,11266456,9455477,8889548,7531196,16189514 9818 NM_014089,NM_001008564,NM_001008565,AL138958,AL359556,AL590787,AL646102,CH471075,AB007870,AF113020,AK025800,AK026604,AK123955,BC001104,BG330006,BM976542,BP249090,CR605945,CR618238 NP_054808,NP_001008564,NP_001008565,CAH71290,CAI39898,CAI39901,CAI39902,CAH72184,EAX08368,EAX08369,EAX08370,EAX08371,BAA23706,AAH01104,Q5JRG2,Q5JRG3,Q5VSY3,Q5VSY4,Q9BVL2 Hs.310453,Hs.507537 KIAA0410|PRO2463 protein-coding 1344412 NUPL2 nucleoporin like 2 1580863 10358091,16000379,15820316,15489334,12690205,12477932,12228227,11691994,10610322,10228171,9621063,9450185,16120388 11097 NM_007342,AC005082,CH236948,CH471073,BC005327,BC039333,BC107583,BT007409,CR592218,CR601421,CR604064,CR607673,CR610836,CR612404,CR616085,CR622034,CR623982,U97198,CR625401 NP_031368,EAL24260,EAW93775,EAW93776,EAW93777,EAW93778,EAW93779,AAH05327,AAH39333,AAI07584,AAP36077,AAC33794,O15504,Q3B7J4 Hs.408241 CG1|NLP-1|NLP_1|hCG1 protein-coding 736958 NUPR1 nuclear protein 1 10092851,17116693,17101797,17016631,16628001,16478804,16300740,16294328,16101158,15854263,15781258,15489334,15342556,12477932,12174869,11940591,10493829,10493524,9405444 26471 NM_001042483,NM_012385,AC002425,AC020765,AF069074,CH471279,AF069073,AF135266,BC002434,BF965595,BP214401,BT006896,CR542144,CR592498 NP_001035948,NP_036517,AAC05335,AAC05336,AAC19385,EAW52274,EAW52275,EAW52276,AAC19384,AAD49221,AAH02434,AAP35542,CAG46941,O60356,Q6FGG3 Hs.513463 COM1|P8 protein-coding 1317328 NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) 17764014,16835300,15489334,14574404,12477932,9294218 116150 NM_138459,AL590303,CH471051,Z98172,AJ420576,AK025467,AK125119,AK126335,AK130093,BC013026,BC063794,BC066910,BC110325 NP_612468,EAW48201,CAI19895,AAH13026,AAH63794,AAH66910,AAI10326,Q96E22 Hs.289008 C6orf68|MGC117249|MGC7199|MGC:7199|NgBR protein-coding 1313993 NUSAP1 nucleolar and spindle associated protein 1 12963707,14702039,12477932,9373149,8125298 51203 NM_016359,NM_018454,AC087721,CH471125,AF090915,AF217513,AF290612,AF305711,AK023483,AK222819,AK225703,AK290879,AL833611,BC001308,BC010838,BC011008,BC012887,BC024772,BG259258,CR591711,CR596878,CR605213,CR610122,CR623224 NP_057443,NP_060924,EAW92482,EAW92483,EAW92484,EAW92485,EAW92486,AAF24034,AAF67624,AAK28023,AAG25874,BAB14586,BAD96539,BAF83568,AAH01308,AAH10838,AAH12887,AAH24772,Q9BXS6,ABM82514,ABM85708 Hs.615092 ANKT|BM037|FLJ13421|LNP|PRO0310p1|Q0310|SAPL protein-coding 1345837 NUTF2 nuclear transport factor 2 The protein encoded by this gene is a cytosolic factor that facilitates protein transport into the nucleus. It interacts with the nuclear pore complex glycoprotein p62. This encoded protein acts at a relative late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. It is thought to be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. 7744965,15522285,15489334,12477932,11310559,11129791,10679025,9822603,9562972,9533885,9368653,8757804,8707840,7458421,3380696,16189514 10204 CH471092,BC002348,BC033653,CR456937,CR598520,CR601661,CR605590,CR611844,CR613501,CR621393,CR621534,U43939,X07315,NM_005796,AC040162 EAW83181,EAW83182,AAH02348,CAG33218,AAA85905,CAA30278,P61970,NP_005787 Hs.696342 GDB:9955675 NTF2|PP15 protein-coding 1343027 NUTF2P2 nuclear transport factor 2 pseudogene 2 326613 NG_002603,AL162311 pseudo 1322636 NVL nuclear VCP-like 1580863 9286697,16782053,15489334,15469983,12477932,12429849,10737800,8889548,12927788 4931 NM_206840,NM_002533,AC092809,CH471098,AF401208,AW997091,BC005897,BC012105,BQ883523,BU683548,U68140,U78772 NP_996671,NP_002524,EAW69714,EAW69715,EAW69716,AAL02167,AAH05897,AAH12105,AAB70457,AAB70460,O15381,Q96PA2 Hs.497867 GDB:9477298 protein-coding 1604179 NWD1 NACHT and WD repeat domain containing 1 14702039,12477932,8889548 284434 NM_001007525,AC008737,AA535500,AK026798,AK090685,BC117698,BU685952,BX648940,CR749794 NP_001007526,AAI17699,CAH18655,Q149M9 Hs.406014 MGC134940 protein-coding 737301 NXF1 nuclear RNA export factor 1 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. 1580863 9175835,10924507,11583626,15184380,17978099,17609285,17333237,17001072,16971948,16713569,16344560,16189514,15767397,15489334,15210956,14963046,14702039,12581645,12477932,12384575,12093754,11875519,11854490,11724776,11707413,11566096,11551912,11546874,11546873,11259411,11256625,11073998,11060011,10668806,10454577,10323864,10228171,10202158,9933612,9660949,9166830,15358174 10482 BC017421,BC028041,BM751313,CR594029,CR597811,CR749674,DB141140,U80073,NM_001081491,NM_006362,AP001160,CH471076,AB209915,AF112880,AF126246,AJ132712,AK027192,AV750251,AW005685,BC004904 AAH28041,CAH18465,AAB81111,Q59E96,Q68CW9,Q9UBU9,ABM83857,ABM87179,AAH04904,NP_001074960,NP_006353,EAW74103,EAW74104,EAW74105,EAW74106,EAW74107,BAD93152,AAD39102,AAD20016,CAA10753 Hs.523739,Hs.601546 GDB:9959005 DKFZp667O0311|MEX67|TAP nuclear rna export factor 1 homolog (s. cerevisiae) protein-coding 1344828 NXF2 nuclear RNA export factor 2 This gene is one of a family of nuclear RNA export factor genes. It encodes a protein that is involved in mRNA export, is located in the nucleoplasm, and is associated with the nuclear envelope. Alternative splicing seems to be a common mechanism in this gene family. Two variants have been found for this gene. 1580863 11073998,15772651,15489334,14702039,12477932,11566096,11279525,10567585,16189514 56001 NM_017809,NM_022053,AL356322,AL590069,Z70689,Z81367,AF285596,AJ277526,AJ277659,AK000423,AK057385,AK093310,AL157436,BC015020,BX647232 NP_060279,NP_071336,CAD13494,CAI40394,CAI40395,CAI41980,AAK31975,CAC16588,CAC20433,BAA91154,CAB75659,AAH15020,Q5H9H0,Q5H9J9,Q9GZY0,ABM82066,ABM85245 Hs.530358 GDB:10796512 FLJ20416|TAPL-2 protein-coding 1626558 NXF2B nuclear RNA export factor 2B 16382448 728343 NM_001099686,XM_001713916,AL590069 NP_001093156,XP_001713968 Hs.648337 bA353J17.1 protein-coding 1354288 NXF3 nuclear RNA export factor 3 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. 1580863 11545741,15489334,14702039,12477932,11566096,11073998,16189514 56000 NM_022052,CH471190,Z75746,AF346619,AJ277527,AJ277660,AK057086,BC031616,CR600948,CR615935 NP_071335,EAW54722,CAI41984,CAI41986,AAL07564,CAC16589,CAC20434,AAH31616,Q5H9I1,Q9H4D5,ABM82245,ABM85429 Hs.60386 GDB:10796514 protein-coding 1603388 NXF4 nuclear RNA export factor 4 pseudogene 11566096,11073998 55999 NR_002216,XR_042170,AL035551,CH471190,AK124700 EAW54735,BAC85929,Q6ZVD3 Hs.454283 GDB:10796814 FLJ42710 pseudo 1346108 NXF5 nuclear RNA export factor 5 This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. 1580863 11566096,14759258,12784308,11073998 55998 NM_032946,AL672207,CH471115,AJ277654,AJ277655,AJ277656,AJ277657,AJ277658,BC131708 NP_116564,EAX02892,EAX02893,EAX02894,EAX02895,EAX02896,CAC20428,CAC20429,CAC20430,CAC20431,CAC20432,AAI31709,Q5JQ77,Q5JQ78,Q5JQ79,Q5JQ80,Q9H1B4 Hs.307077 GDB:10796816 protein-coding 1321419 NXN nucleoredoxin 1580863 17567240,14702039,12477932,10903915,9119370,17353931 64359 NM_022463,AC015884,AC036164,AC087392,CH471108,AF086523,AK022676,AK027451,AY189690,BC009327,BC063828,BC073845,BC104634,BU856030,CR607415,CR617445 NP_071908,EAW90639,EAW90640,EAW90641,BAB14171,BAB55122,AAO85223,AAH09327,AAH63828,AAH73845,AAI04635,Q56VW5,Q6DKJ4,Q7L4C6,AAI52723,AAI53026 Hs.527989 GDB:11506357 FLJ12614|NRX|TRG-4 protein-coding 1350601 NXNL1 nucleoredoxin-like 1 737633,1580863 17286855,17249548,15220920,12477932 737633 115861 NM_138454,AC010319,CH471106,BC014127,DQ426894 NP_612463,EAW84608,AAH14127,ABD90545,Q0QD37,Q96CM4 Hs.661836 RDCVF|TXNL6 protein-coding 1351751 NXNL2 nucleoredoxin-like 2 737633 15489334,15164053,12477932 737633 158046 NM_145283,AL162729,AL592486,CH471089,BC022521 NP_660326,EAW62756,AAH22521,Q5VZ03 Hs.668937 C9orf121 protein-coding 737134 NXPH1 neurexophilin 1 This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. 15489334,14702039,12880961,12853948,12690205,12477932,12141453,9856994,9570794,8699246 30010 NM_152745,AC004457,AC004613,AC004861,CH236948,CH471073,AA575925,AB047362,AB073665,AK091655,AK095624,BC047505,BX107562 NP_689958,EAL24301,EAW93621,EAW93623,BAB69044,BAE45730,BAC03713,AAH47505,P58417,Q3LID8 Hs.487564 GDB:11498928 NPH1|Nbla00697 protein-coding 1344701 NXPH2 neurexophilin 2 1580863 9570794,15489334,12477932,8699246 11249 AC092620,NM_007226,AC092837,AC110421,AB162675,AF043467,BC101461,BC101462,BC101463,BC104741 NP_009157,BAD11132,AAD02280,AAI01462,AAI01463,AAI01464,AAI04742,O95156,Q494R3 Hs.435019 GDB:9957545 MGC125477|MGC125478|MGC125479|MGC125480|NPH2 protein-coding 735663 NXPH3 neurexophilin 3 1580863 12477932,10574461,9856994,8699246,9570794,15489334,15340161,12975309 11248 NM_007225,AC006487,CH471109,AB032985,AF043468,AL834282,AY358526,BC022541,CR600551 NP_009156,EAW94676,BAA86473,AAD02281,CAD38956,AAQ88890,AAH22541,O95157,Q8NDC3 Hs.55069 GDB:9957544 NPH3 protein-coding 736634 NXPH4 neurexophilin 4 1580863 9570794,12975309,12477932,15489334,14702039 11247 AC137834,AF043469,AK094231,AK290949,AY358614,BC036679,BC053581,NM_007224 NP_009155,AAD02282,BAF83638,AAQ88977,AAH36679,AAH53581,O95158 Hs.534396 GDB:9957539 NPH4 protein-coding 1319614 NXT1 NTF2-like export factor 1 The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. 1580863 11566096,10567585,16189514,15489334,12477932,11780052,11756420,11739738,11583626,11259602,11149927,11073998,10848583,10228171 29107 Q9UKK6 CR620694,NM_013248,AL096677,CH471133,AF156957,AK026360,BC000759,BC002687,BC003029,BC003410 Q9UKK6,NP_037380,CAC03437,EAX10163,AAD54942,AAH00759,AAH02687,AAH03029,AAH03410 Hs.516933 GDB:11504535 MTR2|P15 protein-coding 1350653 NXT2 nuclear transport factor 2-like export factor 2 1580863 15772651,15489334,14702039,12477932,11073998,11042152,16189514 55916 NM_018698,AL031387,CH471120,AF201942,AF212223,AF246127,AJ277591,AJ278323,AK023289,BC014888,BC120984,BC120985 NP_061168,CAI42967,CAI42968,CAI42969,EAX02677,EAX02678,EAX02679,EAX02680,AAF86878,AAF87325,AAF78034,CAB96371,CAC01129,BAB14511,AAI20985,AAI20986,Q0VAN8,Q5JYV5,Q5JYV7,Q9NPJ8 Hs.25010 P15-2 protein-coding 1604254 NY-SAR-48 sarcoma antigen NY-SAR-48 12601173,12477932 93323 NM_033417,NM_001011699,AC020908,CH471106,AY211919,BC004398,BC010176,BC040564,BI829542,BM563712,BX111116,CR594325,CR594374,CR605479,CR615424,CR622261 NP_219485,NP_001011699,EAW84570,EAW84571,AAO65172,AAH04398,AAH10176,AAH40564,Q49AC4,Q86WF0,Q96FX3,Q9BT25 Hs.404088 MGC20533 protein-coding 1348812 NYS2 nystagmus 2, congenital autosomal dominant 8414024,5504065 4933 GDB:9848763 1344117 NYS3 nystagmus 3, congenital autosomal dominant 9806847 4934 GDB:9848765 1349581 NYS4 nystagmus 4, congenital autosomal dominant 317685 1350886 NYX nyctalopin 1601021,1580863 11062471,17392683,16670814,16553780,15772651,15761389,15489334,15331616,14507859,12552565,12506099,12477932,12397430,11062472,9418727,2574143 1601021 60506 NM_022567,Z93015,AF254868,AJ278865,BC112242,CH471141 NP_072089,EAW59399,EAW59400,EAW59401,CAI42364,AAG42685,CAC19014,AAI12243,Q9GZU5 Hs.302019 GDB:119814 CLRP|CSNB1|CSNB4|MGC138447 protein-coding 1351006 OA3 ocular albinism 3 (autosomal recessive) 1632442 4936 GDB:136429 1602422 OAF OAF homolog (Drosophila) 12477932 220323 AP000679,CH471065,CS208007,AY459296,BC008339,BC047726,CR600676,CR603084,CR606518,CR609690,CR610860,NM_178507,CR617263,CR617508 NP_848602,EAW67502,CAJ44929,AAR23238,AAH47726,Q86UD1 Hs.445081 MGC52117|NS5ATP13TP2 protein-coding 1342665 OAP osteoarthrosis, precocious 4937 GDB:120245 1345660 OAS1 2',5'-oligoadenylate synthetase 1, 40/46kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 2440675,3754863,17360168,17092260,16824203,16644715,16541075,16235172,16014697,15865429,15855350,15850793,15766558,15732009,15489334,14702039,12944978,12477932,12447867,12082089,11986302,11980899,11092454,10464285,9790745,9407111,9373149,8125298,6348777,3753689,3175763,3121313,2830497,2456211,2426799,2416561,2411547,1708818,1651324 4938 NM_016816,NM_001032409,NM_002534,A14571,A14573,AC004551,CH471054,DQ445949,DQ473588,M11809,M11810,M18099,X06560,X07179,AJ629455,AK123528,AK223006,AK225384,AK291003,AY730627,AY730628,BC000562,BC071981,BE048946,BF055326,BT006785,CB112445,CR590221,CR603997,CR613331,CR621070,CR626748,D00068,X02661,X02874,X02875,X04371,BC061587 NP_058132,NP_001027581,NP_002525,CAA01166,CAA01167,EAW98019,EAW98020,EAW98021,EAW98022,EAW98023,ABE27977,ABE27978,AAB59552,AAB59553,AAA59955,CAA29803,CAA30164,CAF33358,BAD96726,BAF83692,AAW63049,AAW63050,AAH00562,AAH61587,AAH71981,AAP35431,BAA00047,CAA26497,CAA26633,CAA26634,CAB51602,P00973,Q1P9K4,Q3ZM01,Q3ZM02,ABM82818,ABM86005 Hs.524760 GDB:119465 IFI-4|OIAS|OIASI protein-coding 1348906 OAS2 2'-5'-oligoadenylate synthetase 2, 69/71kDa This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 2440675,16541075,16014697,15489334,12477932,12447867,11092454,10464285,9790745,9521856,8259037,3350819,2470369,2211721,1708818,1577824 4939 NM_016817,NM_002535,NM_001032731,AC004551,CH471054,AF074990,AK292796,AK292906,BC010625,BC023637,BC049215,BC053870,BE885222,BQ213828,CR592869,M87284,M87434,BC069052 NP_058197,NP_002526,NP_001027903,EAW98026,EAW98027,BAF85485,BAF85595,AAH10625,AAH23637,AAH49215,AAH53870,AAH69052,AAA60606,AAA60607,P29728,Q6PJ33,Q7Z6D0 Hs.414332 GDB:9848768 MGC78578 protein-coding 1347854 OAS3 2'-5'-oligoadenylate synthetase 3, 100kDa This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. 1580863 2440675,17408844,16541075,16014697,12477932,12447867,11280764,11112351,9880533,9790745,9346316,1708818 4940 NM_006187,AC004551,AF251351,CH471054,AB044545,AF063613,AK000608,AK292949,BC012015,BC113746,BG390192,BG765554,BM474470,BU558279,BU860096,CR602049,W47620 NP_006178,EAW98024,EAW98025,BAB18647,AAD28543,BAF85638,AAI13747,Q2HJ14,Q9Y6K5 Hs.528634 GDB:9848770 MGC133260|p100 protein-coding 1346146 OASD ocular albinism and sensorineural deafness 4941 GDB:138457 1318443 OASL 2'-5'-oligoadenylate synthetase-like 1580863 9826176,7776974,16541075,16235172,15489334,14728690,14702039,12477932,10087211,9722630,776974 8638 NM_198213,NM_003733,AC079602,CH471054,L40387,AJ225089,AK023956,AL711263,BC117408,BC117410,BG744291,BM918192,CR609351 NP_937856,NP_003724,EAW98235,EAW98236,EAW98237,EAW98238,AAC41733,CAA12396,AAI17409,AAI17411,Q15646 Hs.118633 GDB:9956090 TRIP14|p59OASL protein-coding 1350711 OAT ornithine aminotransferase (gyrate atrophy) OAT encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme is the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. 1600292,1580863 1682785,1618792,3456579,17353931,2793865,16713569,16096275,15489334,12477932,9878407,9514741,9309222,7932736,7887415,7668253,6462326,3816496,3754226,3596985,3375240,3339136,3170546,2507357,2373169,2363680,1737786,1612597,16189514 1600292 4942 NM_000274,AL445237,CH471066,M29927,M88760,AB208817,BC000964,BC016928,CR457045,CR604740,CR605069,CR749808,M12267,M14963,M23204,S66418,S66421,Y07511 NP_000265,CAI17293,EAW49271,EAW49272,AAA59957,AAA59958,BAD92054,AAH00964,AAH16928,CAG33326,CAH18668,AAA59956,AAA59959,AAA36386,AAB20298,AAB20297,CAA68809,P04181,Q59HE2,Q68CS0,Q6IAV9 Hs.523332 GDB:120246 DKFZp781A11155|HOGA protein-coding 1352092 OATL2 ornithine aminotransferase-like 2 4944 GDB:127529 1344408 OATL3 ornithine aminotransferase-like 3 (pseudogene) 8406505 4945 NG_001169,AL445237,S65768 GDB:215803 pseudo 733111 OAZ1 ornithine decarboxylase antizyme 1 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase and accelerates its degradation. 1580863 7813017,18089576,17900240,17761941,17630775,16713569,16373339,16061000,15670771,15355308,15057824,12477932,12426106,12359729,10781034,10473601,9426243,9132164,8954789,8185631,8001569,7811704,2724368 4946 NM_004152,AC004152,AY865622,CH471139,D89870,AL542477,BC007247,BC010063,BC013037,BC042364,BC053360,BC055397,BC081537,BC093652,BC100291,BC112133,BI667301,CR595080,CR601402,CR604371,CR608421,CR609439,CR618921,CR621194,CR622737,CR623800,D78361,D87914,U09202 NP_004143,AAC02802,AAC02803,AAW56074,EAW69393,EAW69394,EAW69395,BAA23101,AAH93652,AAI12134,BAA11373,BAA11374,BAA13497,AAA82154,AAA82155,P54368,Q2M222 Hs.446427 GDB:1220200 AZI|MGC138338|OAZ protein-coding 1344023 OAZ2 ornithine decarboxylase antizyme 2 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. The antizyme encoded by this gene inhibits ornithine decarboxylase but does not accelerate its degradation. 1580863 9428668,17353931,15355308,12477932,12359729,10781034,10352227,9782076,8889548 4947 AC090543,AC100830,CH471082,AF057297,AF242520,AF242521,BC035493,BC047755,BC063577,BC073877,BC092483,BC119629,BC119630,BC127630,BC127631,BC148316,BM686393,BX648172,CR590699,CR590996,CR593659,CR594645,CR596383,CR601685,CR603676,NM_002537,CR604161,CR606371,CR611250,CR612625,CR616925,CR623096,CR624771,CR626244 NP_002528,EAW77690,EAW77691,EAW77692,AAD03265,AAF99601,O95190,Q9HD73 Hs.74563,Hs.643010 GDB:9848772 AZ2 protein-coding 1347463 OAZ3 ornithine decarboxylase antizyme 3 Ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in polyamine biosynthesis. The ornithine decarboxylase antizymes play a role in the regulation of polyamine synthesis by binding to and inhibiting ornithine decarboxylase. Antizyme expression is auto-regulated by polyamine-enhanced translational frameshifting. In contrast to antizymes 1 and 2, which are widely expressed throughout the body, the expression of this gene product (antizyme 3) is restricted to testis germ cells, and thus it is a possible candidate for heritable forms of human male infertility. 1580863 14702039,12477932,10781034,10781085,16542438,15642376,15355308 51686 NM_016178,AL589765,CH471121,AF175296,AK125876,AY713300,BC073949,BC128558,BC128559 NP_057262,CAI17173,CAI17174,EAW53412,EAW53413,EAW53414,AAD51734,AAH73949,Q5SZR6,Q5SZR7,Q6GMR0,Q9UMX2 Hs.288936 GDB:10796818 AZ3|OAZ-t|TISP15 protein-coding 1313785 OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 737633,1580863 17903301,16189514,15489334,15164054,14702039,12477932 737633 79991 NM_024928,AL133355,CH471066,AK026212,BC017400,CR600104,CR607240,CR609551,CR617185 NP_079204,CAB81623,EAW49619,EAW49620,BAB15396,AAH17400,Q9H668 Hs.134491 FLJ22559|RP11-541N10.2|bA541N10.2 protein-coding 1603967 OBFC2A oligonucleotide/oligosaccharide-binding fold containing 2A 14702039,12477932 64859 NM_001031716,AC114778,CH471058,AK023686,AK026486,AL832659,AL833684,BC017114,BC107723,CR593303,CR609297,CR620561 NP_001026886,AAY24348,EAX10835,EAX10836,EAX10837,EAX10838,BAB15491,CAH56209,AAH17114,AAI07724,Q96AH0 Hs.591610 DKFZp667M1322|FLJ13624|FLJ22833|MGC111163 protein-coding 1601970 OBFC2B oligonucleotide/oligosaccharide-binding fold containing 2B 12477932 79035 NM_024068,AC073896,CH471054,AY203942,BC001079,BC006171,CR623688,CR625869 NP_076973,EAW96912,EAW96913,EAW96914,EAW96915,AAP34465,AAH01079,AAH06171,Q9BQ15 Hs.240170 MGC2731 protein-coding 1344089 OBP2A odorant binding protein 2A This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 10607840,16546182,16461020,15489334,12477932,12379593,12044155,11058764 29991 AJ251029,AL161452,CH471090,AI219510,AJ251021,AJ251022,AJ251023,AJ251024,AM087898,BC069563,NM_014582 NP_055397,CAB71326,CAI14041,CAI14042,CAI14043,EAW88158,EAW88159,EAW88160,EAW88161,EAW88162,CAB71318,CAB71319,CAB71320,CAB71321,CAJ32623,AAH69563,Q2PAD7,Q5T8A2,Q5T8A3,Q5T8A4,Q5T8A5,Q9NY56 Hs.567489 OBP|OBP2C|OBPIIa|hOBPIIa protein-coding 1347589 OBP2B odorant binding protein 2B 1580863 10607840,15489334,15164053,12975309,12477932,12044155,3388043 29989 AL732364,CH471090,AJ251026,AJ251027,AJ251028,AW513637,AY358981,BC096717,BC098125,BC098151,NM_014581,AJ251025,BC098340,BX101545 CAH73779,EAW88048,EAW88049,EAW88050,EAW88051,EAW88052,CAB71323,CAB71324,CAB71325,AAQ89340,AAH96717,AAH98125,AAH98151,NP_055396,CAB71322,AAH98340,Q5VSP5,Q9NPH6 Hs.449629 MGC119022|hOBPIIb protein-coding 737583 OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. 11448995,12527750,17720975,17716621,17382936,16710414,16625316,16344560,16205939,15489334,15185077,15146197,15013951,14702039,12631729,12477932,11814696,11717165,10997877,17360660 84033 BC099731,BC114382,BC114461,BU180714,CN302348,DB163213,DB445363,DQ400343,NM_001098623,NM_052843,AJ314896,AJ314898,AJ314900,AJ314903,AJ314904,AJ314905,AJ314906,AJ314907,AJ314908,AL353593,AL359510,AL670729,CH471098,AB046776,AB046859,AJ002535,AK024186,AK097489,AL832357,AL833724,AM231061,BC034746,BC043916,BC098118,BC098262,BC098292 AAH99731,AAI14383,AAI14462,ABD63255,Q24JT4,Q5VST9,Q658N7,Q9H7X6,NP_001092093,NP_443075,CAC85745,CAC85746,CAC85747,CAC85750,CAC85751,CAC85752,CAC85753,CAC85754,CAC85755,CAI19283,CAI19284,CAI19285,CAI15072,CAH71670,CAH71673,EAW69866,EAW69867,BAB13382,BAB13465,CAC44768,BAB14847,CAH56259,CAJ76912,AAH43916,AAH98118,AAH98262,AAH98292 Hs.650039,Hs.656999 GDB:11506363 DKFZp666E245|FLJ14124|KIAA1556|KIAA1639|MGC120409|MGC120410|MGC120411|MGC120412|MGC138590|UNC89 protein-coding 1603688 OBSL1 obscurin-like 1 17289344,15489334,14702039,12477932,12168954,9734811,9110174,8619474 23363 NM_015311,AC009955,AB014557,AF035292,AK023854,AK025946,BC007201,BC061909,CR590353,CR602668,CR607106,EF063637,EF063638 NP_056126,BAA31632,BAB14704,AAH07201,AAH61909,ABO42327,ABO42328,O75147,Q6P710,Q9H8B3 Hs.526594 KIAA0657|MGC71026 protein-coding 1606848 OC90 otoconin 90 10329003,9860971,8382789 729330 NM_001080399,AC092817,AC100868 NP_001073868,Q02509 Hs.653174 GDB:133794 PLA2L protein-coding 1352949 OCA2 oculocutaneous albinism II This gene encodes the human homologue of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in this gene result in type 2 oculocutaneous albinism. 1580863 7601462,8302318,8421497,18463683,18326704,18252222,18252221,18093281,17960121,17952075,17767372,17619204,17570052,17568986,17236130,16453125,16417222,15889046,15712365,15489334,15262401,12876664,12817591,12727022,12713581,12579416,12477932,12469324,12163334,12028586,11601658,11310796,11179026,10987646,10671067,10649493,10094567,9259203,8875191,7920637,7874125,7762554,1773534,1509264,1415228 4948 U19166,U19167,U19168,U19169,U19170,U19171,U19172,U19173,U19174,U19175,U19176,BC012097,M97901,M99564,NM_000275,AC079090,AC090696,AC124091,AC135329,CH471151,U19152,U19153,U19154,U19155,U19156,U19157,U19158,U19159,U19160,U19161,U19162,U19163,U19164,U19165 AAC13783,AAH12097,AAA36430,AAA36477,Q04671,NP_000266,EAW57661,EAW57662,EAW57663,AAC13784 Hs.654411 GDB:136820,GDB:4590307 BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 oculocutaneous albinism ii (pink-eye dilution homolog, mouse) protein-coding 1345410 OCD1 obsessive-compulsive disorder 1 4949 GDB:118846 1603010 OCEL1 occludin/ELL domain containing 1 15489334,14702039,12477932 79629 NM_024578,AC010646,CH471106,AF109191,AK026362,BC004121,BC029361,BC038945,CR598715,CR602515 EAW84578,NP_078854,EAW84577,EAW84579,AAQ13501,BAB15460,AAH04121,AAH29361,Q5QTR7,Q6PKA4,Q9H607 Hs.422676 FLJ22709|FWP009|S863-9 protein-coding 1351024 OCIAD1 OCIA domain containing 1 16344560,16341674,12477932,11162530 54940 NM_001079841,NM_017830,NM_001079840,NM_001079842,AC079927,CH471069,AF251296,AF323665,AF324350,AK000462,NM_001079839,AL555289,BC003409,BC088361,BM819316,CR591070,CR592468,CR593373,CR599869,CR606711,CR612142,CR612891,CR614441,CR618578,CR621465,CR624767,CR624940,CR625789,CR626387,DA037995,DB064148,DT215975,H09533 NP_001073308,NP_001073310,NP_060300,NP_001073309,NP_001073311,EAW93070,EAW93071,EAW93072,EAW93073,AAG44596,AAG45220,AAK12121,BAA91181,AAH03409,AAH88361,Q9NX40 Hs.518750 Asrij|FLJ20455|MGC111072|OCIA|TPA018 protein-coding 1349620 OCIAD2 OCIA domain containing 2 737633 16341674,12477932 737633 132299 NM_001014446,AC020593,AC105444,CH471069,AY472117,BC032808,BM782144,CR749310,NM_152398 NP_001014446,EAW93075,EAW93076,EAW93077,AAS47684,AAH32808,CAH18165,Q56VL3,NP_689611 Hs.95835 DKFZp686C03164|MGC45416 protein-coding 1343681 OCIAD2P1 OCIAD2 pseudogene 1 448837 1344734 OCLM oculomedin The protein encoded by this gene is induced by cyclic mechanical stretching in trabecular cells of the eye and it is also expressed in retina. This protein may play a role in trabecular meshwork function and the development of glaucoma. 1580863 10362512,15489334,12868032,12655282,12477932 10896 NM_022375,AL596220,CH471067,AF142063,BC069096,BC093987,BC093989 NP_071770,EAW91210,EAW91211,AAD43676,AAH69096,AAH93987,AAH93989,Q9Y5M6 Hs.679230 GDB:9958460 TISR protein-coding 732985 OCLN occludin This gene encodes an integral membrane protein which is located at tight junctions. This protein may be involved in the formation and maintenance of the tight junction. The possibility of several alternatively spliced products has been suggested but the full nature of these products has not been described. 1359811,1580863 10749869,8601611,18276783,18005733,17962811,17855770,17635647,17553883,17359339,17283368,17243118,17038551,16959951,16924233,16616143,16207910,16134968,16081103,15806147,15761153,15659655,15622522,15500294,15489334,15472219,15069537,14991532,14512431,12932229,12804768,12728017,12668723,12667324,12477932,12419305,12184633,12169098,12118072,12071155,11950934,11878825,11782481,11710912,11700038,11679090,11502742,11228248,10601346,10591624,10581193,10575001,10497311,10026224,9792688,9531559,9243183,9212730,9175707,7798316,15977641,12639940,16189514 1359811 4950 NM_002538,AC142525,AC145146,AC147575,AF400630,CH471137,AK290697,BC029886,BK001650,CR606900,U49184,U53823 NP_002529,AAL47094,EAW51275,EAW51276,BAF83386,AAH29886,DAA01837,AAC50451,AAB00195,Q16625,Q5U1V4,ABM83349,ABM86563 Hs.592605 GDB:5875385 protein-coding 737307 OCM oncomodulin Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. 1580863 8354278,16344560,12853948,12477932,11181995,8611623,1559707 654231 NM_001097622,XM_001127318,AC004983,CH471144,L20345,L20346,BC069468,BC069512,BC069550,BC113704,BC113706,CB045979,DB339645 NP_001091091,XP_001127318,EAW87352,AAA02869,AAH69468,AAH69512,AAH69550,AAI13705,AAI13707,P32930 Hs.571315 GDB:132239 MGC142264|MGC142266|MGC97453|MGC97465|MGC97477|OM|ONCM protein-coding 1350275 OCP1 organ of Corti protein 1 4930 GDB:568397 1350136 OCRL oculocerebrorenal syndrome of Lowe This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. 1580863 7761412,1321346,1840503,18307981,18019214,17765681,17384968,16902405,16420990,15917292,15829501,15772651,15627218,12915445,12477932,12428211,10923037,10767176,10639484,9915833,9838104,9788721,9682219,9632163,9593760,9430698,9199559,9048911,9038219,8504307,1897526 4952 NM_000276,NM_001587,AL022162,AL138745,AL662877,CH471107,Z73496,AK226116,AK293107,BC018003,BC025253,BC094726,BC130612,S62085,U57627 NP_000267,NP_001578,CAI95695,CAI95696,CAI41087,CAI41088,EAX11830,EAX11831,EAX11832,BAF85796,AAH18003,AAH25253,AAH94726,AAI30613,AAB26926,Q01968,Q4VY10,Q504W7,Q6PJ10,Q8WWC2,AAB03839 Hs.126357 GDB:119461 INPP5F|LOCR|NPHL2|OCRL1 protein-coding 1603034 ODAM odontogenic, ameloblast asssociated 17647262,16674676,14702039,14647039,12477932,11329013,9373149,8889549,8125298 54959 NM_017855,AC105347,CH471057,AA025290,AK000520,AK098169,AK225547,BC017796,BG181363,BG194365,EF113908 NP_060325,EAX05611,EAX05612,BAA91226,AAH17796,ABL11577,A1E959 Hs.143811 APIN|FLJ20513 protein-coding 731324 ODC1 ornithine decarboxylase 1 This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. 1578320,1300048,1580863 2317811,17353931,18413818,17957960,17719568,17569126,17378176,17088079,17047198,16520895,15734972,15534104,15489334,15015770,12810952,12477932,12359729,11945886,11830503,11461922,10754523,10623504,10588659,10064588,8519686,8185631,8168440,8043198,7821789,16469300,16459331,16219697,3755388,3595418,3308908,3036086,2693021,2587220,2440930,2318872,2227439,1598217,1423312 1578320 4953 NM_002539,AC007249,AY841870,CH471053,CQ834228,M31061,M33764,M34157,M34158,M81740,S71124,X16277,AK292352,BC014562,BC025296,CR613073,CR614398,CR615738,D28365,DQ185043,M16650,M20372,X53271,X55362 NP_002530,AAY15034,AAV88093,EAX00958,EAX00959,CAH05329,AAA60563,AAA60564,AAA59969,AAA59967,CAA34353,BAF85041,AAH25296,BAA05731,ABD14423,AAA59966,AAA59968,CAA37369,CAA39047,P11926,Q2F835,Q53TU3,Q6PJJ5,ABM87068,ABW03841 Hs.467701 GDB:119462 ODC protein-coding 1352488 ODCP ornithine decarboxylase pseudogene 4954 GDB:119463 733828 ODF1 outer dense fiber of sperm tails 1 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. 1580863 15489334,12594206,12533418,12477932,11774369,11468777,10381817,10373309,9045620,8949892,8873064,8305202,8111388,1418683 4956 NM_024410,AP002851,AP002852,CH471060,M93131,M93132,X74614,BC104456,BC104457 NP_077721,EAW91847,EAW91848,EAW91849,CAA52685,AAI04457,AAI04458,Q14990 Hs.159274 GDB:382100 HSPB10|MGC129928|MGC129929|ODF|ODF2|ODF27|ODFP|ODFPG|ODFPGA|ODFPGB|RT7|SODF protein-coding 731998 ODF2 outer dense fiber of sperm tails 2 The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Multiple protein isoforms are encoded by transcript variants of this gene; however, not all isoforms and variants have been fully described. 10072582,16966375,15302935,14702039,12477932,11774369,10381817,9740324,9045620 4957 NM_153437,AF109138,AL359091,AL445287,CH471090,AF012549,AF053970,AK093367,AK126816,NM_002540,AY319414,AY366499,BC010629,BC012785,BC091500,BI825445,BI831601,BM563800,BM928430,DQ444713,DQ444714 NP_002531,NP_702915,AAD22544,CAI13499,CAI13500,CAI13501,CAI13502,CAI13503,CAI13504,CAI13505,CAI13506,CAI13507,CAI13508,EAW87791,EAW87792,EAW87793,EAW87794,EAW87795,EAW87796,EAW87797,EAW87798,EAW87799,EAW87800,EAW87801,AAB66337,AAC08409,BAC86706,AAP83847,AAQ73195,AAH10629,AAH12785,AAH91500,ABE01856,ABE01857,Q5BJF6,Q5T4C2,Q5T4C7,Q5T4C8,Q5VVT8,Q5VVU0,Q6PJQ8,Q6ZT88,Q9UNM2 Hs.129055 GDB:9863059 FLJ44866|MGC111096|MGC9034|ODF2/1|ODF2/2|ODF84 sperm outer dense fiber major protein 2 protein-coding 1606519 ODF2L outer dense fiber of sperm tails 2-like 12477932,10574462,8889548 57489 NM_001007022,NM_020729,AC119749,AL136382,CH471097,AB033055,BC009779,BC012579,BC026105,BC029420,BC047368,BC091490,BG777878,BI768058,BM971230,BQ894001,BX499763,CR591511 NP_001007023,NP_065780,EAW73188,EAW73189,EAW73190,EAW73191,EAW73192,BAA86543,AAH09779,AAH29420,AAH47368,AAH91490,Q96GC1,Q9ULJ1 Hs.149360 KIAA1229|MGC111060|RP5-977L11.1|dJ977L11.1 protein-coding 1320693 ODF3 outer dense fiber of sperm tails 3 ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM] 12477932,11870087 113746 NM_053280,AC069287,CH471278,AB067774,AL133658,AY713299,BC126222,BC126248 NP_444510,EAW61249,BAB70734,CAH10709,AAW83203,AAI26223,AAI26249,Q96PU9 Hs.350949 SHIPPO1|TISP50|hSHIPPO protein-coding 1348133 ODF3L1 outer dense fiber of sperm tails 3-like 1 12477932 161753 NM_175881,AC019294,CH471136,BC039862 NP_787077,EAW99238,AAH39862,Q8IXM7 Hs.144348 MGC48986 protein-coding 1346133 ODF4 outer dense fiber of sperm tails 4 This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. 12728016,12477932,15270212 146852 NM_153007,AC135178,CH471108,AB081120,AY237799,BC112010,BC112014 NP_694552,EAW90059,BAC15594,AAO89569,AAI12011,AAI12015,Q2M2E3 Hs.186045 MGC138215|MGC138219|OPPO1 protein-coding 1350577 ODT1 oligodontia 1 4960 GDB:125360 1350445 ODZ1 odz, odd Oz/ten-m homolog 1(Drosophila) 1580863 10341219,10556288,16344560,15777793,15772651,15146197,14702039,12915301,12000766,10737800,10331952,9771704 10178 NM_014253,AL022718,AL023774,AL023878,AL031075,CH471107,Z81008,Z83823,Z85995,AF100772,AK055765,BC140783,BE700315,BX457474,BX506934,CN305715,DA217223 NP_055068,CAI42154,EAX11846,AAF04723,AAI40784,Q9UKZ4 Hs.23796,Hs.609721 GDB:9956892 ODZ3|TEN-M1|TNM|TNM1 protein-coding 732274 ODZ2 odz, odd Oz/ten-m homolog 2 (Drosophila) 17081983,15372022,14702039,12783990,10737800,10625539,10574461,10225957 57451 AC113372,AB032953,AK056053,AL137500,BF950845,BQ774782,BX648178,CR936703,NM_001080428,NM_001122679,AC008464,AC008601,AC008634,AC008637,AC008642,AC008705,AC008708,AC011369,AC011384,AC026689,AC091820,AC093304 BAA86441,CAB70774,Q9NT68,NP_001073897,NP_001116151 Hs.654631 DKFZp686A1568|TEN-M2|TNM2 odd oz/ten-m homolog 2 (drosophila) protein-coding 1315371 ODZ3 odz, odd Oz/ten-m homolog 3 (Drosophila) 15815621,14702039,14671302,11932239,10819331,10625539,10331952 55714 NM_001080477,AC079226,AC093601,AC105288,AC109353,AC131943,AF484565,AY405420,AY736855,CH471056,AB040888,AF195420,AK001336,AK001748,AK027473,AK125869,AY726602 NP_001073946,AAU84915,EAX04702,BAA95979,AAF28318,BAA91633,BAA91879,BAB55138,Q9P273 Hs.130438 FLJ10474|FLJ10886|KIAA1455|TNM3|Ten-m3 protein-coding 1312224 ODZ4 odz, odd Oz/ten-m homolog 4 (Drosophila) 16554811,14702039,12168954,12000766,10718198,10625539 26011 NM_001098816,AP002515,AP002768,AP002957,AP002958,AB037723,AK023935,AK056531,AK127101,AK127705,AK309124,AL080120,BX537983,BX640737,DR000247,EG328205 NP_001092286,BAA92540,BAB71206,CAB45719,CAD97943,CAE45850,Q6N022 Hs.213087,Hs.689053 Doc4|FLJ99165|TNM4|Ten-M4 protein-coding 1352802 OED Oregon eye disease 2667510 4961 GDB:128271 1344475 OFC1 orofacial cleft 1 4963 GDB:120247 1347803 OFC2 orofacial cleft 2 9676424 4964 GDB:127355 1350180 OFC3 orofacial cleft 3 7668251 4965 GDB:128060 1352821 OFCC1 orofacial cleft 1 candidate 1 12477932 266553 NM_153003,AL031122,AL139332,CH471087,AF520800,AF520801,AF520802,AF520803,AF520804,AF520805,AF520806,AF520807,AF520808,AF548113,AF548114,AF548115,AF548116,AF548117,AF548118,AF548121,AF548122,AF548123,AY309094,BC113541,BC113543 NP_694548,EAW55244,EAW55245,EAW55246,AAN06675,AAN06676,AAN06677,AAN06678,AAN06679,AAN06680,AAN06681,AAN06682,AAN06683,AAN59915,AAP74970,AAI13542,AAI13544,Q8IZS0,Q8IZS2,Q8IZS4,Q8IZS5 Hs.532138 MGC142101|MGC142103|MRDS1 protein-coding 1348587 OFD1 oral-facial-digital syndrome 1 This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. 1580863 18177199,17761535,16783569,16397067,15489334,15466260,14654843,12782125,12595504,12477932,11950863,11734546,11179005,10441586,9722947,9373149,9215688,8125298,7759104 8481 NM_003611,AC003037,CH471074,AK225847,AK289677,AK290354,BC012324,BC030787,BC042830,BC052809,BC062432,BC092448,BC096344,BC096345,BC099658,BC099659,CB134304,Y15164,Y16355 Q4G0Q0,Q4KKU3,Q4VAK3,Q6P668,Q7Z7F6,NP_003602,EAW98835,EAW98836,EAW98837,EAW98838,EAW98839,EAW98840,EAW98841,BAF82366,BAF83043,AAH42830,AAH52809,AAH62432,AAH96344,AAH96345,AAH99658,AAH99659,CAA75436,CAA76185,O75665 Hs.6483 GDB:120248 71-7A|CXorf5|MGC117039|MGC117040|SGBS2 protein-coding 1349979 OFD1P1 OFD1 pseudogene 1 9722947 23738 NG_003023,AC025449 71-7A3|71-7A5|C5orf1 pseudo 1604159 OFDYP1 OFD1 pseudogene Y-linked 1 12815422 378009 NG_004636,AC007742,AC095381 pseudo 1605510 OFDYP10 OFD1 pseudogene Y-linked 10 12815422 386694 NG_004755,AC009947,AC016707,AC016752 pseudo 1605509 OFDYP11 OFD1 pseudogene Y-linked 11 12815422 386695 NG_004755,AC025246 pseudo 1605508 OFDYP12 OFD1 pseudogene Y-linked 12 12815422 386696 NG_004755,AC068601,AC073893 pseudo 1605507 OFDYP13 OFD1 pseudogene Y-linked 13 12815422 386697 NG_004755,AC010682 pseudo 1605506 OFDYP14 OFD1 pseudogene Y-linked 14 12815422 386698 NG_004755,AC007965,AC017005 pseudo 1605505 OFDYP15 OFD1 pseudogene Y-linked 15 12815422 386699 NG_004755,AC006991,AC007965 pseudo 1349962 OFDYP16 OFD1 pseudogene Y-linked 16 12815422 442485 NG_004755,AC078938 pseudo 1604158 OFDYP2 OFD1 pseudogene Y-linked 2 12815422 378010 NG_004636,AC024183 pseudo 1351259 OFDYP3 OFD1 pseudogene Y-linked 3 12815422,9847074 386687 NG_003116,AC068719 pseudo 1605516 OFDYP4 OFD1 pseudogene Y-linked 4 12815422,9847074 386688 NG_004636,AC069130,AC073962 pseudo 1605515 OFDYP5 OFD1 pseudogene Y-linked 5 12815422 386689 NG_004636,AC022486 pseudo 1605514 OFDYP6 OFD1 pseudogene Y-linked 6 12815422 386690 NG_004636,AC007379 OFD1P2 pseudo 1605513 OFDYP7 OFD1 pseudogene Y-linked 7 12815422 386691 NG_004636,AC009235 pseudo 1605512 OFDYP8 OFD1 pseudogene Y-linked 8 12815422 386692 NG_004755,AC007322 pseudo 1605511 OFDYP9 OFD1 pseudogene Y-linked 9 12815422 386693 NG_004755,AC008175 pseudo 1353072 OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitocondrial matrix and uses thiamine pyrophosphate as a cofactor. A congential deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. 1580863 9727038,8020988,7622061,2188967,17343268,16344560,16189514,15649899,15466852,12477932,9847074,1542694 4967 NM_001003941,AC004859,AC011894,CH236960,CH471128,D32064,AI244565,AU140451,BC004964,BC009580,BC014617,BC128549,BC128550,BM998792,CR598912,CR610956,CR613315,CR617563,NM_002541,CR617767,D10523 NP_002532,NP_001003941,AAQ96884,AAQ96885,EAW61086,EAW61087,EAW61088,EAW61089,BAA06836,AAH04964,AAH09580,AAH14617,AAI28550,AAI28551,BAA01393,Q02218,Q96DD3,ABM82806,ABW03449 Hs.488181 GDB:118847 AKGDH|E1k|OGDC protein-coding 1322096 OGDHL oxoglutarate dehydrogenase-like 737633,1580863 14702039,12477932,10574462,9373149 737633 55753 NM_018245,AC069546,CH471187,AB033116,AK001713,AK055817,AK225558,AK290226,BC026320,CR603720 NP_060715,EAW93080,EAW93081,EAW93082,BAA86604,BAA91855,BAF82915,AAH26320,Q9ULD0 Hs.17860 protein-coding 1605373 OGFOD1 2-oxoglutarate and iron-dependent oxygenase domain containing 1 14702039,12477932,10997877 55239 NM_018233,AC092140,CH471092,AB046832,AK001688,AK022130,AK022752,AK024314,AL711389,BC032919,CR615197 NP_060703,EAW82861,EAW82862,BAB13438,BAA91838,BAB13967,BAB14226,BAB14880,AAH32919,Q8N543 Hs.231883 FLJ10826|KIAA1612|TPA1 protein-coding 1606222 OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain containing 2 16169070,14702039,12477932 79676 NM_024623,AC026362,CH471054,AK023553,AK094820,AK095481,BC009181,BC015605,BC033857,BC047676,BC071172,BC098119,BC098293,BC101940,BC105637,BX640675,BX640734,CR457316,CR610399,CR622109 NP_078899,EAW98364,EAW98365,EAW98366,EAW98367,EAW98368,EAW98369,EAW98370,EAW98371,EAW98372,BAB14610,AAH98119,AAH98293,AAI01941,AAI05638,CAE45807,CAE45849,CAG33597,Q6N063 Hs.524817 DKFZp686H15154|FLJ13491|FLJ37501|MGC120434|MGC120436 protein-coding 737296 OGFR opioid growth factor receptor The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. 1580863 10677613,17273790,17081983,16820893,16685459,15489334,14702039,12650964,12477932,11890982,11780052,11214971,10974024 11054 AF172453,AK022234,AK024485,BC008768,BC014137,BC032666,BM551600,NM_007346,AF112980,AL035669,CH471077,AF109134,AF172449,AF172450,AF172451,AF172452 AAF64406,BAB15775,AAH08768,AAH14137,AAH32666,Q05BV5,Q4VXW3,Q4VXW4,Q6PK21,Q9NZT2,ABM83869,ABW03524,NP_031372,AAD03745,CAC28882,CAI95763,CAI95764,CAI95765,EAW75335,EAW75336,EAW75337,EAW75338,EAW75339,EAW75340,EAW75341,AAD03737,AAF64402,AAF64403,AAF64404,AAF64405 Hs.67896 GDB:9956337 protein-coding 1318300 OGFRL1 opioid growth factor receptor-like 1 12477932 79627 NM_024576,AL136164,CH471051,AK024732,BC018688,BC110999,BX420584,CR600219,CR603879,CR625019 NP_078852,CAI20223,EAW48802,EAW48803,BAB14980,AAH18688,AAI11000,Q5TC84 Hs.656091 FLJ21079|MGC102783|dJ331H24.1 protein-coding 1353911 OGG1 8-oxoguanine DNA glycosylase This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. The N-terminus of this gene contains a mitochondrial targetting signal, essential for mitochondrial localization. 1600295,1578408,1580863 9223305,10583946,10717238,9190902,17353931,18478337,18393249,18366059,18349297,18272472,18270339,18222119,18204928,18155253,18154319,18091433,18086781,18059482,18006925,17991492,17989114,17984110,17971348,17951408,17932460,17922186,17827862,17651912,17536801,17531525,17531381,17457458,17426120,17417784,17417778,17399686,17389610,17374727,17313735,17252231,17240059,17230526,17220334,17214369,17209434,17207658,17207022,17203305,17177211,17149600,17148573,17127715,17126083,17114185,17090545,17085873,17057786,17040931,17028303,17018150,17015827,17015267,16997330,16982113,16949154,16923968,12754413,12718576,12717837,12779082,12644468,12612057,12592398,12582029,12578369,12509224,12477932,12244119,12189194,12164330,12164325,12163326,12151358,12119232,12117782,12034821,11992556,11977425,11956079,11927502,11902834,11837743,11827746,11719088,11675410,11307145,11110971,10987279,10908322,10775435,10706276,10497264,10449904,10233168,9765618,9681819,9662341,9348312,9321410,9223306,9207108,9197244,9187114,11448535,16872898,16843501,16800823,16615267,16614128,16609022,16600130,16597659,16585517,16569655,16567524,16564556,16549874,16543247,16538639,16492928,16478987,16381036,16366378,16333523,16293709,16221808,16211227,16195237,16111924,16052235,16024742,15990162,15990020,15979229,15971256,15946795,15942030,15931596,15929986,15896461,15887293,15841414,15834708,15811855,15800616,15800211,15781210,15760895,15737490,15667866,15661661,15654505,15610848,15596047,15587988,15494448,15491645,15449173,15350146,15284179,15231648,15184269,15077011,14752045,14716324,14688259,14663360,14634838,14634453,14578150,12933815,12899941,12883749,12841596,12807753,15870915,15856018 1600295,1578408 4968 NM_016819,NM_016820,NM_002542,NM_016828,NM_016829,NM_016826,NM_016827,NM_016821,AC022382,AF088282,AF521807,AJ131341,CH471055,AB000410,AB019528,AB019529,AB019530,AB019531,AB019532,AB037878,AB037879,AB037881,AB037882,AF003595,AF026691,AK289858,BC000657,CR591637,CR597017,CR603924,CR610319,CR611650,CR616161,CR618090,U88527,U88620,U96710,Y11731,Y11838,Y13277 NP_058212,NP_058213,NP_002533,NP_058437,NP_058438,NP_058434,NP_058436,NP_058214,AAD41680,AAD41681,AAD41682,AAM74236,CAA10351,EAW63978,EAW63979,EAW63980,EAW63981,EAW63982,EAW63983,EAW63984,EAW63985,EAW63986,EAW63987,EAW63988,BAA19103,BAA76635,BAA76636,BAA76637,BAA76638,BAA76639,BAB13293,BAB13294,BAB13296,BAB13297,AAB61340,AAB84013,BAF82547,AAH00657,AAB68614,AAB68615,AAB81132,CAA72414,CAA72536,CAA73726,O15527,Q9GZT7,Q9HCR6,Q9HCR8,ABM87106,ABW03843 Hs.380271 GDB:6380587 HMMH|HOGG1|MUTM|OGH1 protein-coding 1317793 OGN osteoglycin This gene encodes a protein which induces ectopic bone formation in conjunction with transforming growth factor beta. This protein is a small proteoglycan which contains tandem leucine-rich repeats (LRR). Alternatively spliced transcript variants that encode the same protein have been found for this gene. 15489334,15340161,15164053,13679028,12533723,12477932,11230166,11076863,10931946,10828622,10802664,10656267,2372374,2326263,17895523,16381901,16303743,16189248,15489336,10373482,11256614 4969 NM_033014,NM_014057,NM_024416,AF112465,AF192478,AF192483,AL137848,CH471089,AF086912,AF088023,AF100758,AF173383,AF202167,AI424992,AK075521,AK129845,AK289628,AL110267,AL133114,BC037273,BC095443,BG772245,BX646984,CR533516,CR614070,CR626599 NP_148935,NP_054776,NP_077727,AAD40453,AAF19364,CAI16694,CAI16695,EAW62818,EAW62819,EAW62820,AAP97142,AAD43022,AAQ13624,AAF69109,BAF82317,CAB53706,CAB61417,AAH37273,AAH95443,CAG38547,P20774,Q7Z4E0,Q7Z532,CAL37691,CAL37820,ABM82153,ABM85338 Hs.708130 GDB:9429464 DKFZP586P2421|OG|OIF|SLRR3A osteoglycin (osteoinductive factor, mimecan) protein-coding 736466 OGT O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT) catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains nine tetratricopeptide repeats and a putative bipartite nuclear localization signal. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1625539,1580863 9083068,12670868,9083067,16966374,16189514,16105839,15896326,15795231,15561949,15489334,15336570,14601650,12911634,12724313,12538765,12504895,12477932,12435728,12373287,12150998,12136128,11846551,11773972,10801981,10753899,9499386,9343410,9110174,8910513,8702840,8639509,8619474,8344946,8076819,10580430,10386995,8063760,7642555,1730617,1533623,1512232,17353931 1625539 8473 NM_181672,NM_181673,AJ315767,AL590763,CH471132,AF070560,AF147394,AF223393,AL049950,AL050366,AL833085,BC014434,BC015144,BC038180,BX537844,U77413 NP_858058,NP_858059,CAC86127,CAC86128,CAC86129,EAX05285,EAX05286,EAX05287,AAF31458,CAB62528,CAD89970,AAH14434,AAH38180,CAD97853,AAB63466,O15294,Q548W1,Q9H5T3,ABM84549,ABM87847 Hs.405410 GDB:9955227 FLJ23071|HRNT1|MGC22921|O-GLCNAC o linked n-acetylglucosamine transferase protein-coding 1345771 OIP5 Opa interacting protein 5 1580863 9466265,17284516,17199038,15489334,12620389,12477932 11339 NM_007280,AC012652,AC087721,CH471125,AF025441,BC015050,CR603974 NP_009211,EAW92480,EAW92481,AAC39561,AAH15050,O43482 Hs.661645 5730547N13Rik|LINT-25|MIS18beta protein-coding 1345970 OIT3 oncoprotein induced transcript 3 1302862,1580863 15589826,14702039,12975309,12939600 1302862 170392 NM_152635,AC069548,CH471083,CS300502,AF075085,AK096435,AY013707,AY358339,BC126440 NP_689848,CAK32166,BAC04788,AAG40096,AAQ88705,AAI26441,Q8WWZ8,EAW54463 Hs.8366 FLJ39116|LZP protein-coding 1604016 OLA1 Obg-like ATPase 1 17430889,17353931,11256614,16169070,15635413,15489334,14702039,12477932,11230166,9373149,8125298 29789 NM_013341,AC013467,AC016737,CH471058,CQ782638,AF078859,AF078868,AF134478,AK027523,AK074710,AK225112,AK225138,AL136546,AL833441,BC012842,BC013925,NM_001011708,BC029376,BC068447,BC091522,CR591506,CR594307,CR596070,CR603515,CR604617,CR604894,CR606753,CR606953,CR607181,CR607795,CR607845,CR608088,CR608516,CR613657,CR618778,CR618959,CR621118 NP_001011708,NP_037473,AAY14779,AAY14876,EAX11149,EAX11150,EAX11151,CAF85894,AAD44491,AAD44500,AAP97255,BAB55174,BAC11153,CAB66481,AAH12842,AAH13925,AAH29376,AAH91522,Q0JT32,Q53SQ6,Q53SW9,Q9NTK5 Hs.157351 DKFZp313H1942|GTPBP9|PTD004 protein-coding 1352519 OLAH oleoyl-ACP hydrolase 1580863 17082220,15489334,14702039,12477932 55301 NM_001039702,NM_018324,AL590365,CH471072,AK001844,AK001968,BC050372,BR000403 NP_001034791,NP_060794,CAH73957,CAH73958,CAH73959,CAH73960,CAH73961,CAH73962,EAW86244,EAW86245,BAA91937,BAA92007,AAH50372,FAA00320,Q5VUB6,Q5VUB8,Q5VUB9,Q5VUC1,Q9NUW1,Q9NV23 Hs.24309 AURA1|FLJ11106|MGC51852|SAST|THEDC1 thioesterase domain containing 1 protein-coding 733478 OLFM1 olfactomedin 1 This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. 1580863 17043677,9039501,16344560,16335952,15489334,14702039,12477932,9110174,8619474 10439 NM_006334,AL159992,BK001427,CH471090,AF035301,AI656802,AK096304,AK289719,AK289921,AK290478,NM_014279,BC000189,BC008763,BC011741,BC015437,BT007146,BU078731,BX419781,BX461034,CR611553,CR621361,CR621412,D82343,DA483071,DA795630,DB069120,DN993130,U79299 NP_055094,NP_006325,CAH70816,CAH70817,CAH70818,CAH70819,DAA01545,DAA01546,DAA01547,DAA01548,DAA01549,EAW88142,EAW88143,EAW88144,EAW88145,AAB88184,BAC04756,BAF82408,BAF82610,BAF83167,AAH00189,AAH08763,AAH11741,AAH15437,AAP35810,BAA11554,AAB50225,Q53XZ8,Q6IMJ4,Q6IMJ5,Q6IMJ6,Q6IMJ7,Q6IMJ8,Q8N8R0,Q96BL8,Q99784,Q9BWJ9 Hs.522484 GDB:9957009 AMY|NOE1|NOELIN1|OlfA olfactomedin related er localized protein protein-coding 1320243 OLFM2 olfactomedin 2 1580863 17122126,15489334,15123989,15057824,12766061,12477932,9110174,8619474 93145 NM_058164,AC008742,AC008752,BK001428,CH471106,AF131839,BC011361,CR592038,CR592581,CR594920,CR597123,CR598222,CR604836,CR606369,CR612883 NP_477512,DAA01550,EAW84060,AAD20056,AAH11361,O95897,ABM82009,ABM85191 Hs.169743 GDB:11506365 NOE2|NOELIN2|NOELIN2_V1|OlfC protein-coding 735294 OLFM3 olfactomedin 3 12975309,12477932,12019210,16189514,16344560,16115881,15489334,14702039 118427 AL356280,AL359760,BK001429,CH471097,AF397392,AF397393,AF397394,AF397395,AF397396,AF397397,AK095551,AK095724,AY358722,BC022531,CR604928,DA406512,NM_058170 NP_477518,CAI15681,CAI15682,DAA01551,DAA01552,DAA01553,DAA01554,DAA01555,DAA01556,EAW72921,EAW72922,EAW72923,AAK97473,AAK97474,AAK97475,AAK97476,AAK97477,AAK97478,AAQ89084,AAH22531,Q5T3V6,Q6IMI7,Q6IMI8,Q6IMI9,Q6IMJ0,Q6IMJ1,Q96PB7,ABW03310 Hs.484475 GDB:11506367 NOE3|NOELIN3|NOELIN3_V1|NOELIN3_V2|NOELIN3_V3|NOELIN3_V4|NOELIN3_V5|NOELIN3_V6|OPTIMEDIN protein-coding 1323306 OLFM4 olfactomedin 4 This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. The protein encoded is a member of the olfactomedin-related protein family. The exact function of this gene has not yet been determined. 17650212,16566923,12975309,12477932,11867215,11302958,2824652 10562 NM_006418,AL390736,CH471124,AF097021,AK000683,AY358567,BC047740,BC117329 NP_006409,CAH71311,EAW52052,EAW52053,AAC72970,AAQ88930,AAH47740,AAI17330,Q5VWF9,Q6UX06 Hs.559736 GC1|GW112|KIAA4294|OlfD|bA209J19.1 protein-coding 1323529 OLFML1 olfactomedin-like 1 15489334,15340161,12975309,12477932 283298 NM_198474,AC107884,CH471064,AY358591,BC035895,BC092488,BX647908,CR591365 NP_940876,EAW68655,EAW68656,EAW68657,EAW68658,AAQ88954,AAH35895,AAH92488,CAI46097,Q5HYE3,Q6UWY5 Hs.503500 UNQ564 protein-coding 1323220 OLFML2A olfactomedin-like 2A 737633,1580863 16344560,14702039,12975309,12477932 737633 169611 AL354928,NM_182487,CH471090,AB119055,AK074164,AK074709,AK092255,AY358185,BC011693,BC013281,BC054001,DA727926 CAI39634,CAI39635,CAI39636,NP_872293,EAW87596,EAW87597,BAD38864,BAB84990,BAC11152,AAQ88552,AAH54001,Q5JTM7,Q68BL7,Q8NCI9,Q8TEG0 Hs.357004 FLJ00237|PRO34319 protein-coding 1319500 OLFML2B olfactomedin-like 2B 12477932 25903 NM_015441,AL391825,AL590408,CH471067,AB119054,AL050137,BC047472,BC067274,BX648975,CR600954 NP_056256,CAH73984,CAH73987,EAW90696,EAW90697,EAW90698,BAD38863,CAB43286,AAH47472,AAH67274,CAI45982,Q68BL8 Hs.507515 MGC51337|RP11-227F8.1 protein-coding 1322385 OLFML3 olfactomedin-like 3 16710414,16303743,16289162,15489334,15280020,14702039,12975309,12477932,9373149,8125298 56944 AL731797,CH471122,CS051143,CS051313,AF201945,AK075353,AK075369,AK075479,AK075544,AK092766,AK222471,AK223221,AY358954,AY464015,NM_020190,BC009920,CR593069,CR595134,CR596335,CR597657,CR598507,CR598729,CR599952,CR601422,CR602607,CR602631,CR603678,CR606952,CR608311,CR608635,CR610491,CR610535,CR610849,CR613617,CR615262,CR617511,CR618552,CR618591,CR624364,CR625123 NP_064575,CAI22797,CAI22798,EAW56594,EAW56595,CAI72067,CAI72151,AAF86881,BAC11564,BAC11644,BAC11687,BAD96191,BAD96941,AAQ89313,AAR88262,AAH09920,Q9NRN5,ABM83707,ABM87027 Hs.9315 HNOEL-iso|OLF44 protein-coding 1351843 OLFR@ olfactory receptor cluster 4972 GDB:337332 1350271 OLIG1 oligodendrocyte transcription factor 1 1580863 17690840,17388669,17283288,17171653,16820418,16267213,15604411,15489334,14516699,12617822,12477932,11526205,11091082,10830953,10719889 116448 NM_138983,AP000289,AB209791,AL355743,AL834450,BC011252,BC026989,BC033290,BK000278 DAA01058,Q59EM0,Q8TAK6,ABM87827,NP_620450,BAD93028,CAD39110,AAH26989,AAH33290 Hs.56663 GDB:11506369 BHLHB6 protein-coding 1316088 OLIG2 oligodendrocyte lineage transcription factor 2 This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. 1580863 17964117,17951409,17934761,17917751,17690840,17431671,17283288,17171653,17010574,16554441,16469306,16344560,16267213,16103065,15839736,15489334,15198128,14702039,14576772,14573534,12477932,11526205,11498220,10830953,10737801,16891421,16682644,16582099 10215 AP000287,CH471079,AF221520,AK091462,AU130620,BC034681,BC036245,BC036275,BC047511,U48250,NM_005806 EAX09851,AAF61215,AAH34681,AAH36245,AAH47511,AAC72247,Q05BP9,Q13516,Q49AL3,NP_005797 Hs.176977 GDB:9955713 BHLHB1|OLIGO2|PRKCBP2|RACK17 protein-coding 1314358 OLIG3 oligodendrocyte transcription factor 3 17982456,15769945,15489334,14702039,14574404,14516699,12477932,11091082 167826 NM_175747,AL023580,BK000141,CH471051,AK096362,BC051352 NP_786923,CAI20348,DAA00303,EAW47930,BAC04768,AAH51352,Q7RTU3,ABZ92416 Hs.195398 Bhlhb7 protein-coding 731042 OLR1 oxidized low density lipoprotein (lectin-like) receptor 1 This gene encodes a receptor protein which belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternative transcript variants have been described but their full-length sequence has not been determined. 1580992,628368,1580993,1580994,1580995,1580996,1580997,633385,1580863 9052782,18469066,18384690,18220661,18191876,18173546,18054331,18053692,17992634,17923264,17909223,17854420,17717293,17538005,17416594,17306253,17050011,17022953,16829343,16690797,16511086,16434026,16328515,16285995,16251892,16173915,16146427,16061745,16013913,15976314,15939022,15935375,15860461,15855339,15797645,15780115,15727724,15695803,15562935,15529384,15489334,15480893,15472120,15342556,15276231,15060104,15001526,15000751,14684693,12878212,12829655,12810610,12807963,12646204,12646194,12637341,12566375,12504834,12477932,12419941,12384789,12354387,12232563,12073608,11985903,11915516,11821063,11745369,11728449,11284714,11256994,11196705,11034947,10377073,10325241,9933026,9837956,9828121,9763655,9703956,9693095,10085242 1580992,628368,1580993,1580994,1580995,1580996,1580997,633385 4973 NM_002543,AC024224,AF079164,AF079167,AJ131757,CH471094,DQ314885,AB010710,AB102861,AF035776,AK292124,BC022295,BP219342,BQ028409,CA309323,CB955704,CR602659 NP_002534,AAC97927,CAB38175,EAW96156,EAW96157,EAW96158,EAW96159,ABC40744,BAA24580,BAC81565,AAC82329,BAF84813,AAH22295,P78380,ABM82335,ABM85511 Hs.412484 GDB:9611270 CLEC8A|LOX1|SCARE1 oxidised low density lipoprotein (lectin-like) receptor 1 protein-coding 1349527 OMA1 OMA1 homolog, zinc metallopeptidase (S. cerevisiae) 737633,1580863 17615298,14702039,12886954,12477932 737633 115209 NM_145243,AL109845,AL365187,CH471059,AB048348,AK091101,BC012915 Q96E52,NP_660286,CAI13522,CAI13523,CAI13524,CAI13525,CAI13526,CAI13527,EAX06631,EAX06632,EAX06633,EAX06634,BAC79381,BAC03583,AAH12915 Hs.425769 2010001O09Rik|DAB1|FLJ33782|MPRP-1|YKR087C|ZMPOMA1 protein-coding 736115 OMD osteomodulin 1580863 15489334,14673660,12975309,12489179,12477932,10913920,9566981,9373149,8125298 4958 NM_005014,AB009589,AL137848,CH471089,AB000114,AK225922,AY358872,BC046356 NP_005005,BAA23982,CAI16696,EAW62821,BAA19055,AAQ89231,AAH46356,Q5TBF4,Q99983 Hs.94070 GDB:9539626 OSAD|SLRR2C osteomodulin (osteoadherin) protein-coding 1352154 OMG oligodendrocyte myelin glycoprotein 1580863 17632510,16425041,15489334,12716421,12566166,12477932,12068310,9373149,8244377,8125298,3283151,2277079,1899288,1688857 4974 NM_002544,AC134669,CH471147,X57436,AK222663,BC018050,BG704091,M63623,T27382,X51694 NP_002535,EAW80279,EAW80280,CAA40684,BAD96383,AAH18050,AAA59970,CAA35991,P23515,Q53HB8,ABM83257,ABM86461 Hs.113874 GDB:127563 OMGP protein-coding 734264 OMP olfactory marker protein Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. 1580863,737796 8790421,15489334,12911636,12477932,12054873,8754248,8499899,8034318 737796 4975 NM_006189,AP000752,CH471076,U01212,BC069115,BC069365 NP_006180,EAW75017,AAA20485,AAH69115,AAH69365,P47874 Hs.673853 GDB:136051 protein-coding 732947 ONECUT1 one cut homeobox 1 729198,1580863 10491763,18097590,17283222,15520459,15304484,14988562,14570708,12509444,12477932,12379144,11279202,10825208,10811635,10430878,9915796,9231664,8887657,8790352 729198 3175 NM_004498,AC016044,AF035581,CH471082,Y17739,BC140830,EU532019,U77975,U96173 NP_004489,AAD02033,EAW77461,CAB50769,AAI40831,ACB30402,AAB61705,AAD00826,Q08EM3,Q9UBC0 Hs.658573 GDB:9837254 HNF-6|HNF6|HNF6A protein-coding 1354460 ONECUT2 one cut homeobox 2 This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. 1580863 9915796,16912168,14702039,12477932,11478782 9480 NM_004852,AC090340,CH471096,AK021717,AK124558,BC013134,BC108925,BC108926,CR590917,Y18198 NP_004843,EAW63045,AAI08926,AAI08927,CAB38253,O95948,Q32MY5 Hs.194725 GDB:9956819 MGC120377|MGC120378|OC-2|OC2 protein-coding 1351058 ONECUT3 one cut homeobox 3 15057824,11944891,11181995,9915796 390874 NM_001080488,AC004755,AC005256,CH471139 NP_001073957,AAC17602,EAW69464,O60422 Hs.654347 GDB:11498420 OC3 protein-coding 1351084 OOEP oocyte expressed protein homolog (dog) 17913455,12477932,11181995 441161 NM_001080507,AC019205,CH471051,BC024931,BX093821,EU290647 NP_001073976,EAW48772,ABX84389,A6NGQ2 Hs.671212 C6orf156|HOEP19|KHDC2 protein-coding 1344166 OPA1 optic atrophy 1 (autosomal dominant) This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Eight transcript variants encoding different isoforms, resulting from alternative splicing of exon 4 and two novel exons named 4b and 5b, have been reported for this gene. 1580863 12477932,12161614,12123827,12073024,12036970,11810296,11810270,11735024,11440989,11017079,9917792,9628581,9490303,11017080,12509422,11847212,12504110,18222991,18204809,18158317,18079692,18065439,17826766,17724190,17722006,17718388,17709430,17709429,17615298,17579882,17545159,17415700,17318099,17306754,17188070,17188046,17024226,17016536,17003040,16785854,16778770,16737747,16617242,16513463,16331355,16323009,16240368,16158427,16115883,16021496,16006781,15832306,15700187,15635063,15534475,15531309,15505825,15489334,15356267,15144186,14970223,14702039,14644237,14566653,14551537,14516807,12842213,12566046,12543739 4976 NM_130837,NM_130834,NM_130836,NM_015560,NM_130835,NM_130832,NM_130833,NM_130831,AC048351,AC106710,AF416919,AF416920,CH471052,AB011139,AK022107,AK022522,BC035393,BC043443,BC058013,BC075805,CR612060 NP_570850,NP_570847,NP_570849,NP_056375,NP_570848,NP_570845,NP_570846,NP_570844,EAW78064,EAW78065,EAW78066,EAW78067,EAW78068,EAW78069,EAW78070,EAW78071,EAW78072,BAA25493,AAH58013,AAH75805,O60313,Q6PEK6 Hs.594504 GDB:118848 FLJ12460|KIAA0567|MGM1|NPG|NTG|largeG protein-coding 1354152 OPA2 optic atrophy 2 (obscure) 9382106 4977 GDB:125358 1319326 OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1580863 8889548,15342707,11668429,16838891,16381901,16344560,15489336,15489334,14702039,13703570,12477932,12126933,11076863,9097959 80207 NM_001017989,NM_025136,AC006117,AC006261,AC011480,CH471126,AK025840,CS300703,AK098798,BC005059,BC047316,BC064146,CA944687,DB034102 NP_001017989,NP_079412,CAK32367,EAW57367,BAB15255,BAC05415,AAH05059,AAH47316,AAH64146,Q0JV96,Q9H6K4,CAL37564 Hs.466945,Hs.660608 GDB:9954590 FLJ22187|FLJ25932|MGA3|MGC75494 protein-coding 1317163 OPALIN oligodendrocytic myelin paranodal and inner loop protein 1580863 11256614,17442045,16381901,16344560,15489336,15489334,12477932,11814680,11230166,11076863 93377 NM_001040102,NM_033207,NM_001040103,AL136181,CH471066,AF367761,AK289835,AL834229,BC024191,BC033737,DA314221,DA402678 NP_001035191,NP_149984,NP_001035192,CAH72985,EAW49977,EAW49978,AAK62349,BAF82524,CAD38907,AAH33737,Q0JU81,Q5W102,Q96PE5,CAL37624,CAL37930 Hs.12449 HTMP10|TMEM10|TMP10 protein-coding 731778 OPCML opioid binding protein/cell adhesion molecule-like This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily. The encoded protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Two transcript variants encoding different isoforms have been found for this gene. 1580863 1333602,7721093,7891157,18179137,17967182,17239010,17159813,17109515,16384911,15489334,15146195,14702039,12819783,12477932,9110174,8619474,8244387 4978 NM_001012393,NM_002545,AP000843,AP000863,AP000903,AP003029,AP003784,AP003972,AP004606,AP004782,AP005122,AP005133,AP005638,CH471065,AF070577,AK125185,AK289695,BC074742,BC074773,BC117254,BC126251,BX537377,EU562295,EU562296,L34774,U79251,W39242 NP_001012393,NP_002536,EAW67804,EAW67805,BAF82384,AAH74742,AAH74773,AAI17255,AAI26252,CAD97619,ACB56655,ACB56656,AAA36387,Q14982,Q6B0I4,Q7Z3W6 Hs.4817 GDB:251677 OBCAM|OPCM opioid-binding protein/cell adhesion molecule-like protein-coding 1343134 OPEM ophthalmoplegia, external, with myopia 4981 GDB:119467 1345567 OPHN1 oligophrenin 1 This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. 1580863 9582072,18261018,17845870,16221952,15772651,15342556,15026118,12807966,12805098,12777533,12477932,11998687,11595131,11161835,10818214,10439959,9195162 4983 AB102202,AB102203,AB102204,AB102206,AB102207,AB102205,AL672138,AX022628,AB102208,AB102209,AB102210,AJ248245,AJ248267,AL157700,AL158201,NM_002547,AB102191,AB102192,AB102193,AB102194,AB102195,AB102196,AB102197,AB102198,AB102199,AB102200,AB102201,AX022629,CH471132,Z82203,AB102656,AJ001189,BC059393,BP357826,CR605867 BAC80701,BAC80702,BAC80703,BAC80704,BAC80705,BAC80706,BAC80707,BAC80708,BAC80709,CAB96181,NP_002538,BAC80690,BAC80691,BAC80692,BAC80693,BAC80694,BAC80695,BAC80696,BAC80697,BAC80698,BAC80699,BAC80700,CAC07882,EAX05378,BAC81125,CAA04579,AAH59393,O60890,Q6PCC1,Q7Z2H1 Hs.128824 GDB:9837369 MRX60|OPN1 protein-coding 1350998 OPHN1P1 oligophrenin 1 pseudogene 1 266698 NG_002375,AP000534 GDB:11510748 pseudo 733077 OPLAH 5-oxoprolinase (ATP-hydrolysing) 1580863 15146197,14993790 26873 BC142672,BC150206,CN279004,NM_017570,XM_001129650,AC109322,AF024672,AF024673,AB122018,AF217994,AL096750,BC036944,BC041576 AAI42673,AAI50207,O14841,Q9HBQ9,AAI40371,NP_060040,XP_001129650,AAB81519,BAD13434,AAG17236,CAB46426 Hs.305882 GDB:10795451 5-Opase|DKFZP434H244|OPLA protein-coding 1346667 OPN1LW opsin 1 (cone pigments), long-wave-sensitive This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. 1580863 9860863,2937147,7643192,17655910,16020309,15772651,15252758,12107411,12051694,11181995,11063754,9541545,9430642,8889548,8857542,8792812,8213841,8146162,7566098,3303660,2501212,1617223,1557123,14517278 5956 NM_020061,CH471172,M13301,M13305,Z68193,AW950066,BM688032,BQ637240,CR749814,EL949562,EL952084,T27896 NP_064445,EAW72756,AAB59524,CAA92342,CAM28377,CAH18674,P04000,Q68CR4,AAI56644 Hs.592247 GDB:120724 CBBM|CBP|RCP protein-coding 1347075 OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 1580863 1302020,2937147,10319869,16020309,12853434,12051694,9815288,9494086,8857542,8792812,7643192,3303660,2574415 2652 NM_000513,AC092402,K03494,K03497,X54675 NP_000504,AAB59503,AAB59525,CAA38486,P04001,Q9UQS0,AAI56777 Hs.247787 GDB:120622 CBBM|CBD|GCP|OPN1MW1 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) protein-coding 1605739 OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 728458 NM_001048181,AC092402,BC140938 NP_001041646,AAI40939 Hs.571751 protein-coding 736424 OPN1SW opsin 1 (cone pigments), short-wave-sensitive 1580863 9089077,2937147,16961973,12809157,12690205,8270261,3485310,3303660,2565599,1742276,1531728,1386496 611 AC024952,CH236950,CH471070,L32835,M13299,NM_001708,U53874,CR599610,DQ822478,M26172 EAL24112,EAW83680,AAL31362,NP_001699,AAB05207,AAC51334,ABH01259,AAA35608,P03999,Q0PJU0,AAI56720 Hs.656404 GDB:119032 BCP|BOP|CBT opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) protein-coding 1345705 OPN3 opsin 3 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. 1580863 10234000,18344558,16710414,15489334,14623461,12477932,12242008,12063405,11401433,8889548 23596 NM_014322,AF482426,AL133390,CH471098,AF140242,AF303588,BC036773,BC051900,BC062622,BC073872,BM679966,CB989739,CR591433,CR600728,CR619681 NP_055137,AAO15715,AAO15717,EAW70097,EAW70098,EAW70099,AAD32671,AAK37447,AAH36773,AAH62622,AAH73872,Q6GMT1,Q6P5W7,Q9H1Y3 Hs.409081,Hs.534399 GDB:11508644 ECPN protein-coding 1349299 OPN4 opsin 4 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 15674244,10632589,16961436,16687290,15716953,15674243,15489334,15203218,12853434,12477932,12163844,8889548 94233 NM_001030015,NM_033282,AB065730,AC067750,AF147788,CH471142,DQ314804,BC029291,BC113558,BM672338,CD634966,CD634974 NP_001025186,NP_150598,BAC05951,AAF24978,EAW80330,EAW80331,ABC40723,AAI13559,Q9UHM6 Hs.283922 GDB:11500863 MGC142118|MOP opsin 4 (melanopsin) protein-coding 737573 OPN5 opsin 5 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this gene may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants encoding different isoforms. 1302390 15774036,15489334,14702039,14623103,14623098,14574404,12679517,12477932 1302390 221391 NM_001030051,AL161622,AL356421,CH471081,AK097448,AY255615,AY288419,AY377391,BC042544,BC126194,BC126198,BX647224,NM_181744 NP_859528,NP_001025222,CAI20454,EAX04324,AAO85127,AAP72128,AAR21109,AAI26195,AAI26199,Q6U736 Hs.213717 GPR136|NEUROPSIN|PGR12|TMEM13 g protein-coupled receptor 136 protein-coding 731961 OPRD1 opioid receptor, delta 1 1580863 9548483,7808419,10788493,18213616,18200497,18182056,17622222,17588601,17565992,17550902,17503481,17374034,16806108,16808998,16741914,16710414,16331961,16053916,15317820,15086532,14999000,14745298,14535952,12847517,12740597,12477932,12413885,12142540,12116270,11316510,11278447,11259507,11259487,11085981,11078827,11076863,11076532,11069979,11040053,10982041,10385123,9166747,8415697,8393523,8201839,8020949,1671672,1335167 4985 NM_000911,AL009181,CH471059,BF434068,U07882,U10504 NP_000902,CAA15671,EAX07672,AAA18789,AAA83426,P41143,AAI11839 Hs.372 GDB:137215 OPRD protein-coding 69478 OPRK1 opioid receptor, kappa 1 1580863 8755601,16431922,7624359,18319328,18213616,17711303,17702750,15952771,15608558,15489334,15070904,14745298,14702039,12815037,12477932,12413885,12004055,11316510,11223000,11069979,10959409,10871647,9572309,8188308,8060324,7929306,7869844,11931835,14718611,15086532,17622222,17538007,17374034,17373729,17121830,16924269,16331961,16053916 4986 NM_000912,AC009646,CH471068,U16860,AF498922,AK023198,AY168006,AY466378,BC099912,L36130,L37362,U11053,U17298 NP_000903,EAW86723,AAA56758,AAM21070,AAN87342,AAR36879,AAH99912,AAA63646,AAA63906,AAA20985,AAC50158,P41145,Q8IWP3 Hs.106795 GDB:132651 KOR|OPRK protein-coding 68657 OPRL1 opiate receptor-like 1 The protein encoded by this gene is a G protein-coupled receptor whose expression can be induced by phytohemagglutinin. The encoded integral membrane protein is a receptor for the 17 aa neuropeptide nociceptin/orphanin FQ. This gene may be involved in the regulation of numerous brain activities, particularly instinctive and emotional behaviors. A promoter for this gene also functions as a promoter for another gene, regulator of G-protein signalling 19 (RGS19), located on the opposite strand. Two transcript variants encoding the same protein have been found for this gene. 1580863 10965058,10571060,7566152,8137918,18269382,17910740,17456499,17167337,16807742,16800795,15489334,15276231,15016723,14660000,12576178,12568343,12477932,12399106,12393946,12130708,12801588,11780052,11238602,11097863,11090272,10998524,10692489,9862775,7500847,16189514,15086532 4987 L40949,U30185,X77130,NM_182647,NM_000913,AF217689,AL121581,AL590548,CH471077,AF115266,AF126470,AF285093,AF285094,AF285095,AF348323,AY268428,BC038433,CR542061,CR542082,CR604892 AAA96251,AAA84913,CAA54386,P41146,Q6FGM5,Q8IXB0,Q8TD34,ABM84132,ABM84133,ABW03593,NP_872588,NP_000904,AAG42351,CAC17003,CAD11904,EAW75162,EAW75163,AAO13224,AAL54890,AAG42691,AAG42692,AAG42693,AAK11714,AAP23195,AAH38433,CAG46858,CAG46879 Hs.2859 GDB:345029 KOR-3|MGC34578|NOCIR|OOR|ORL1 protein-coding 737513 OPRM1 opioid receptor, mu 1 17207095,17201465,17157823,17156920,17126529,17054695,17005904,17000822,16960700,16914208,16879459,16871067,16843022,16842630,16808998,16794569,16682632,16679777,16580900,16580639,16542645,16476706,16435402,16402083,16400534,16387451,16315033,16140553,16133302,16123758,16122888,16103897,16053916,16046395,15988758,15933215,15902904,17224915,15893644,15772909,15731588,15704610,15608594,15558714,15542732,15525999,15504181,15494033,15489334,15448587,15448191,15322094,15252283,9689128,7905839,2159143,9242668,18482155,18433502,18419726,18403122,18384978,18349186,18341216,18250953,18250251,18213616,18195715,18182056,18181266,18028530,18004207,17979515,17978999,17898703,17877633,17855614,17768272,17680363,17635908,17592483,17578917,17503481,17497362,17416470,17395891,17374034,15037869,15007373,14745298,14744466,14623376,14532289,12960749,12898579,12815747,12813472,12810704,12734358,12657887,12648891,12627468,12589820,12519790,12477932,12413885,12357145,12221164,12210283,12142540,12141912,12123746,12068084,12031654,15194868,15167694,11933204,11840318,11751037,11457836,11424981,11338173,11278523,11140838,11092766,11076532,11069979,11060299,10874510,10690754,10682855,10656608,10393893,10336124,9572309,9399694,9326307,9312100,8393523,7957926,7891175,7488213,16846840,11445868,14530949,15086532 4988 NM_001008503,NM_000914,NM_001008505,NM_001008504,AF024515,AF024516,AF024517,AF153500,AF547997,AL132774,AL136444,AL445220,AY292290,AY292291,AY299483,AY587764,CH471051,AY036622,AY036623,AY195733,AY225404,AY309001,AY309005,AY309006,AY309007,AY309008,AY309009,AY364230,AY364890,AY521028,BC074927,EU360599,EU362990,L25119,L29301,U12569 NP_001008503,NP_000905,NP_001008505,NP_001008504,AAC51877,AAC51878,AAD44318,AAQ12260,CAI20458,CAC15482,CAI20337,AAP44409,AAP44410,AAP58255,AAS83107,EAW47704,EAW47705,AAK74189,AAK74190,AAO21305,AAP44727,AAQ77385,AAQ77389,AAQ77390,AAQ77391,AAQ77392,AAQ77393,AAR12887,AAR11568,AAS00462,AAH74927,ABY61366,ABY66530,AAA20580,AAA73958,AAB60354,O43185,P35372,Q4VWM1,Q4VWM2,Q4VWM3,Q4VWM4,Q4VWM6,Q4VWX6,Q5TBX0,Q6UPP1,Q6UQ80,Q716A7,Q71V90,Q7Z6A5,Q86V80,Q8IWW3,Q8IWW4,Q9H573 Hs.2353 GDB:137216 KIAA0403|MOR|MOR1|OPRM protein-coding 68519 OPRS1 opioid receptor, sigma 1 This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. 1580863 16472803,16388898,16319298,15542696,15489334,15298647,15164053,14706429,14702039,14567761,12477932,11687279,11476895,11149946,10406945,10087012,9453537,9373149,9341151,8125298,8954936,17961544,17457031,17419803,16954606,16945406 10280 NM_147157,NM_005866,AF001975,AF001976,AF001977,AL450283,CH471071,AF226604,AK098451,AK130502,AK222899,AK291092,AY633611,BC004899,BC006307,BC007839,BC010104,CR457075,CR590434,CR591652,CR592515,CR592762,CR593685,CR593849,CR594423,CR595153,CR596218,CR598930,CR602297,CR603042,CR604206,CR604448,CR606455,CR606713,CR608230,CR608948,CR609235,CR611273,CR611989,CR619527,CR622156,CR624845,CR625524,DQ644568,DQ647702,DQ656583,U75283,U79528 NP_671513,NP_005857,AAC04507,CAI14184,CAI14185,EAW58431,EAW58434,EAW58435,EAW58436,AAF64280,BAC05307,BAD96619,BAF83781,AAV33304,AAH04899,AAH07839,CAG33356,ABG29111,ABG36559,ABG46369,AAB50402,AAB51238,Q5T1J1,Q99720,ABM83807,ABM87129 Hs.522087 GDB:137217 FLJ25585|MGC3851|SIGMAR1|SR-BP1 protein-coding 1312631 OPTC opticin Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). 1580863 17563717,17359525,16335952,15489334,15090426,12951322,10636917,12477932,12019215,11641609,10892843,10837509 26254 NM_014359,AL391817,CH471067,AF161702,AJ133790,AY077681,BC074942,BC074943,BF724878 NP_055174,CAI17034,CAI17035,EAW91482,AAD45900,CAB53459,AAL78286,AAH74942,AAH74943,Q5T2G4,Q9UBM4 Hs.632468 GDB:10450265 OPT protein-coding 736202 OPTN optineurin This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. 1600995 15837803,9488477,18385781,18307994,18195223,17854769,17702576,17663725,17615537,17563717,17293779,17148662,17122126,17081983,16988596,16972651,16885925,16885188,16688110,16681888,16440206,16374045,16358725,16205626,16189514,16148883,16091361,16043855,16020311,15851979,15557444,15498064,15489334,15370540,15326130,15231748,15226658,15164054,14755458,14740994,14702039,14627677,14597044,12939304,12920093,12912697,12811537,12646749,12477932,12379221,11834836,11495908,11137014,10807909,10756201,10366446,9700202,9497264,9110174,8619474 1600995 10133 NM_001008213,NM_001008212,NM_021980,AF283527,AL355355,CH471072,NM_001008211,AF049614,AF061034,AF070533,AF420371,AF420372,AF420373,AK055403,AK122746,BC013876,BC032762,BI552635,CR597026,CR601600,CR603260,CR614451 NP_001008212,NP_001008214,NP_001008213,NP_068815,AAG00497,CAI16549,CAI16550,CAI16551,CAI16552,EAW86301,EAW86302,EAW86303,EAW86304,EAW86305,EAW86306,EAW86307,EAW86308,EAW86309,AAC26850,AAC16046,AAC16047,AAL76327,AAL76328,AAL76329,AAH13876,AAH32762,Q96CV9,ABM84577,ABM86746 GDB:9955295 FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP protein-coding 1342541 OR10A2 olfactory receptor, family 10, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 18446592,16554811,14983052,12213199,11416212 341276 NM_001004460,AC087280,AF321237,AF399490,BK004293,BK004535 NP_001004460,AAG45207,DAA04691,Q9H208 Hs.371762 OR10A2P|OR11-82|OR11-86|OST363 protein-coding 1351222 OR10A3 olfactory receptor, family 10, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859,16554811,14983052,12477932,12213199 26496 NM_001003745,AB065768,AB065940,AC044810,AF399634,BK004404,CH471064,X64986 NP_001003745,BAC05988,BAC06155,AAK95119,DAA04802,EAW68641,P58181,Q8NG90 Hs.381322 GDB:11506371 HSHTPCRX12|HTPCRX12 protein-coding 1350333 OR10A4 olfactory receptor, family 10, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199,11705801,11416212 283297 NM_207186,AC087280,AF321237,AF399625,BK004201,CH471064,AF209506,BC137024 NP_997069,AAG45205,AAK95110,DAA04599,EAW68674,AAL32993,AAI37025,Q6IFR1,Q9H209 Hs.448685 JCG5|OR10A4P protein-coding 1353648 OR10A5 olfactory receptor, family 10, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12477932,12213199,11705801,11416212,9787077,15489334 144124 NM_178168,AC087280,AF065874,AF321237,AF399623,AF399624,BK004296,CH471064,AF324499,BC093651,BC093653 NP_835462,AAC70019,AAG45206,AAK95108,AAK95109,DAA04694,EAW68675,AAL33005,AAH93651,AAH93653,Q6IFG6,Q9H207 Hs.447478 GDB:11501994 JCG6|OR10A1|OR11-403 protein-coding 1344283 OR10A6 olfactory receptor, family 10, subfamily A, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390093 NM_001004461,AB065515,AB065588,AC044810,BK004403,CH471064 NP_001004461,BAC05763,BAC05817,DAA04801,EAW68642,Q8NH24,Q8NH74,AAI56509 Hs.528593 GDB:11506373 OR11-96 protein-coding 1346847 OR10A7 olfactory receptor, family 10, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 121364 NM_001005280,AB065864,AC090048,AF399626,BK004327,CH471054,CS248122 NP_001005280,BAC06082,AAK95111,DAA04725,EAW96804,CAJ56588,Q8NGE5 Hs.554557 GDB:11506375 OR12-6 protein-coding 1348991 OR10AA1P olfactory receptor, family 10, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81487 NG_004278,AL513205 GDB:11501991 pseudo 1350101 OR10AB1P olfactory receptor, family 10, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390091 NG_004153,AB065766,AC021427,AF399452,BK004574 GDB:11506377 pseudo 1353230 OR10AC1P olfactory receptor, family 10, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392133 NG_004374,AB065605,AC073264,CH236959 EAL23791 GDB:11501988 pseudo 1319909 OR10AD1 olfactory receptor, family 10, subfamily AD, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 121275 NM_001004134,AB065872,AC024257,AF399474,BK004354,CH471111,CS248150 NP_001004134,BAC06090,DAA04752,EAW57978,CAJ56602,Q8NGE0 Hs.446790 GDB:11501985 OR10AD1P|OR12-1 protein-coding 1347264 OR10AE1P olfactory receptor, family 10, subfamily AE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81486 NG_004277,AL606752 GDB:11506379 OR10AE2P pseudo 1346669 OR10AE3P olfactory receptor, family 10, subfamily AE, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403223 NG_004401,AC009779 pseudo 1352805 OR10AF1P olfactory receptor, family 10, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282769 NG_004298,AP003033 GDB:11510936 pseudo 1350024 OR10AG1 olfactory receptor, family 10, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 282770 NM_001005491,AB065594,AP003033,BK004519,CH471076,CS248588 NP_001005491,BAC05822,DAA04917,EAW73692,CAJ56810,Q8NH19 Hs.554525 GDB:11510938 OR11-160 protein-coding 1323425 OR10AH1P olfactory receptor, family 10, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 402246 NG_004397,AC092028 GDB:11510940 pseudo 1352142 OR10AK1P olfactory receptor, family 10, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403224 NG_004402,AP003033 pseudo 1342490 OR10B1P olfactory receptor, family 10, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 401903 NG_002201,AB065575,AC003956,AC004794 AAC18916 GDB:10795661 OR10B2 pseudo 1353336 OR10C1 olfactory receptor, family 10, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,14574404,12637542,12213199 442194 NM_013941,AB065471,AF399627,AL049739,AL645927,AL662869,BK004207,BX004810,BX927133,CH471081,CR848056,AJ459860 NP_039229,BAC05728,AAK95112,CAI18054,CAI17485,DAA04605,CAI95548,CAQ10415,EAX03194,CAQ06866,Q5SUN7,Q6IFQ5,Q8NHA7,Q96KK4 Hs.631997,Hs.686940 GDB:10795665 OR10C1P|OR10C2|OR6-31|hs6M1-17 protein-coding 1352383 OR10D1P olfactory receptor, family 10, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859 26541 X64981,NG_004126,AP000818 Hs.512487 GDB:10795667 HTPCRX03|OR10D2P|OST074 pseudo 1354061 OR10D3P olfactory receptor, family 10, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859 26497 NG_004125,AP000818,X64983 Hs.538726 GDB:11504333 HTPCRX09|OR10D3 pseudo 1354039 OR10D4P olfactory receptor, family 10, subfamily D, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390266 NG_003196,AB065753 BAC05973,Q8NGN7 OR10D4|OR10D6P pseudo 1344456 OR10D5P olfactory receptor, family 10, subfamily D, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79488 NG_002254,AC019108 GDB:11506383 pseudo 1349001 OR10G1P olfactory receptor, family 10, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9110172,8188290 26540 NG_001332,AE000658 GDB:10795669 pseudo 1343948 OR10G2 olfactory receptor, family 10, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,9110172,8188290 26534 NM_001005466,NG_001332,AB065894,AE000658,BK004670,CH471078 NP_001005466,BAC06110,EAW66374,Q8NGC3 Hs.554580 GDB:10795670 OR14-41 protein-coding 1346604 OR10G3 olfactory receptor, family 10, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,9110172,8188290 26533 NM_001005465,NG_001332,AB065893,AE000658,AF399566,BK004525,CH471078 NP_001005465,BAC06109,AAK95051,DAA04923,EAW66376,Q8NGC4,AAI56815 Hs.554581 GDB:10795671 OR14-40 protein-coding 1349061 OR10G4 olfactory receptor, family 10, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390264 NM_001004462,AB065757,AC019108,AP001884,BK004502,CH471065,CS248296 NP_001004462,BAC05977,DAA04900,EAW67565,CAJ56671,Q8NGN3 Hs.553760 GDB:11506387 OR11-278 protein-coding 1353755 OR10G5P olfactory receptor, family 10, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79515 NG_002261,AC019108 GDB:11506389 pseudo 1354122 OR10G6 olfactory receptor, family 10, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79490 NG_002255,AB065508,AC019108,BK004312 BAC05756,DAA04710,Q8NH81 OR10G6P|OR10G6Q pseudo 1344862 OR10G7 olfactory receptor, family 10, subfamily G, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390265 NM_001004463,AB065754,AC019108,AP001884,BK004314,CH471065,CS248092 NP_001004463,BAC05974,DAA04712,EAW67568,CAJ56573,Q6IFE8,Q8NGN6 Hs.553761 GDB:11506391 OR11-283 protein-coding 1346605 OR10G8 olfactory receptor, family 10, subfamily G, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219869 NM_001004464,AB065755,AC019108,AP001884,BK004510,BK004571,CH471065,CS248300 NP_001004464,BAC05975,DAA04908,EAW67567,CAJ56673,Q8NGN5 Hs.553635 GDB:11506393 OR11-274|OR11-282 protein-coding 1349215 OR10G9 olfactory receptor, family 10, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219870 AB065756,AP001884,BK004760,CH471065,NM_001001953 BAC05976,EAW67566,Q8NGN4,NP_001001953 Hs.553636 GDB:11506395 OR10G10P protein-coding 1353311 OR10H1 olfactory receptor, family 10, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15057824,14983052,12477932,12213199 26539 NM_013940,AC004510,AC114267,AF399584,BK004210,CH471106,BC130360,BC132969 NP_039228,AAC08454,AAK95069,DAA04608,EAW84505,AAI30361,AAI32970,Q6IFQ2,Q9Y4A9 Hs.533925 GDB:10795672 protein-coding 1350293 OR10H2 olfactory receptor, family 10, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,15057824,14983052,12477932,12213199 26538 BK004211,CH471106,BC069085,BC069457,BC112178,BC113647,NM_013939,AC004597,AC104533,AF399585 DAA04609,EAW84502,AAH69085,AAH69457,AAI12179,AAI13648,O60403,AAK95070,NP_039227,AAC14388 Hs.247694 GDB:10795674 MGC138383 protein-coding 1348272 OR10H3 olfactory receptor, family 10, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,15057824,14983052,12665801,12477932 26532 NM_013938,AC004597,BK004212,CH471106,BC106707,BC113844 NP_039226,AAC14389,DAA04610,EAW84503,AAI06708,AAI13845,O60404,Q6IFQ0 Hs.553524 GDB:10795676 MGC119147|MGC119149 protein-coding 1344881 OR10H4 olfactory receptor, family 10, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 126541 NM_001004465,AB065921,AC011517,AF399586,BK004270,CH471106,CS248352 NP_001004465,BAC06136,AAK95071,DAA04668,EAW84516,CAJ56696,Q6IFJ2,Q8NGA5 Hs.553579 GDB:11506397 OR19-28 protein-coding 1348904 OR10H5 olfactory receptor, family 10, subfamily H, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 284433 NM_001004466,AB065920,AC011537,AF399583,BK004271,BK004272,CH471106,CS248344,BC136869 NP_001004466,BAC06135,AAK95068,DAA04669,DAA04670,EAW84504,CAJ56864,AAI36870,Q6IFJ0,Q8NGA6 Hs.553676 GDB:11506399 OR19-25|OR19-26 protein-coding 1353981 OR10J1 olfactory receptor, family 10, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 1370859,15489334,14983052,12477932,12213199 26476 BC069150,BC112290,BC112292,NM_012351,AF399587,AL663023,BK004527,CH471121,X64995 AAH69150,AAI12291,P30954,Q2M1M6,Q5VSV1,NP_036483,AAK95072,CAH70964,DAA04925,EAW52784,CAA46128 Hs.532661 GDB:11508597 HGMP07J|HSHGMP07J|MGC138495|MGC138497 protein-coding 1347161 OR10J2P olfactory receptor, family 10, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391117 NG_004364,AL513323 GDB:11506401 pseudo 1347047 OR10J3 olfactory receptor, family 10, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052,12213199 441911 NM_001004467,AB065445,AF399453,AL513323,BK004532 NP_001004467,CAI15595,Q5JRS4 Hs.553833 OR1-25|OR10J3P protein-coding 1343836 OR10J4P olfactory receptor, family 10, subfamily J, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391121 NG_004367,AL663023 GDB:11508719 OST717 pseudo 1349251 OR10J5 olfactory receptor, family 10, subfamily J, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12908129 127385 NM_001004469,AB065443,AL606752,AY284357,AY284358,AY284359,AY284360,AY284361,AY284362,AY284363,AY284364,AY284365,AY284366,AY284367,AY284368,AY284369,AY284370,AY284371,AY284372,AY284373,AY284374,AY284375,AY284376,AY284377,AY284378,AY284379,AY284380,AY284381,AY284382,AY284383,AY284384,AY284385,AY284386,AY284387,AY284388,BK004290,CH471121,CS248146 NP_001004469,BAC05709,AAP32607,AAP32608,AAP32609,AAP32610,AAP32611,AAP32612,AAP32613,AAP32614,AAP32615,AAP32616,AAP32617,AAP32618,AAP32619,AAP32620,AAP32621,AAP32622,AAP32623,AAP32624,AAP32625,AAP32626,AAP32627,AAP32628,AAP32629,AAP32630,AAP32631,AAP32632,AAP32633,AAP32634,AAP32635,AAP32636,AAP32637,AAP32638,DAA04688,EAW52783,CAJ56600,Q6IFH2,Q86SE3,Q86UG6,Q8NHC4 Hs.553587 GDB:11506405 OR1-28 protein-coding 1348573 OR10J6P olfactory receptor, family 10, subfamily J, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 401973 NG_004393,AB065629,AL445528 BAC05855,Q8NGY7 OR10J6 pseudo 1349895 OR10J7P olfactory receptor, family 10, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391119 NG_004365,AL513323 GDB:11510942 pseudo 1349799 OR10J8P olfactory receptor, family 10, subfamily J, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 343409 NG_004308,AL513323 GDB:11510944 pseudo 1349334 OR10J9P olfactory receptor, family 10, subfamily J, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391120 NG_004366,AL513323 GDB:11510946 pseudo 1351615 OR10K1 olfactory receptor, family 10, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 391109 NM_001004473,AB065641,AL365440,BK004190,CH471121,CS248374 NP_001004473,BAC05867,CAH70558,DAA04588,EAW52825,CAJ56707,Q6IFS2,Q8NGX5 Hs.690410 GDB:11506409 OR1-6 protein-coding 1349498 OR10K2 olfactory receptor, family 10, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 391107 NM_001004476,AB065642,AL121986,BK004363,CH471121,CS248206 NP_001004476,BAC05868,CAI10868,DAA04761,EAW52826,CAJ56628,Q6IF99,Q8NGX4 Hs.626815 GDB:11506411 OR1-4 protein-coding 1353700 OR10N1P olfactory receptor, family 10, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390267 NG_004339,AP000818 GDB:11506413 pseudo 1346412 OR10P1 olfactory receptor, family 10, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16541075,14983052,12213199 121130 NM_206899,AB065867,AC009779,AF399489,BK004259,CH471054 NP_996782,BAC06085,DAA04657,EAW96817,Q8NGE3,Q8NH36 Hs.554551 OR10P1P|OR10P2P|OR10P3P|OR12-7|OST701 protein-coding 1352906 OR10Q1 olfactory receptor, family 10, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219960 NM_001004471,AB065735,AP004247,BK004298,CH471076,CS248100 NP_001004471,BAC05956,DAA04696,EAW73801,CAJ56577,Q6IFG4,Q8NGQ4 Hs.553646 GDB:11506415 OR11-233 protein-coding 1343046 OR10Q2P olfactory receptor, family 10, subfamily Q, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81345 NG_004249,AP000435 GDB:11506417 pseudo 1349106 OR10R1P olfactory receptor, family 10, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79513 NG_002259,BK004528 GDB:11506419 OR1-10 pseudo 1354093 OR10R2 olfactory receptor, family 10, subfamily R, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 343406 Q6IFS1,Q8NGX6 NM_001004472,AB065640,AF399582,AL365440,BK004191,CH471121 NP_001004472,BAC05866,AAK95067,CAH70559,DAA04589,EAW52824,Q6IFS1,Q8NGX6 Hs.451913 GDB:11506421 OR1-8|OR10R2Q protein-coding 1348144 OR10R3P olfactory receptor, family 10, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 391110 NG_004362,AB065639,AF399451,AL365440,BK004673,AK122667 BAC05865,Q8NGX7 Hs.640254 GDB:11506423 OR1-9 pseudo 1349590 OR10S1 olfactory receptor, family 10, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 219873 NM_001004474,AB065758,AC019108,AF399565,AP001884,BK004509,CH471065,BC137038 NP_001004474,BAC05978,AAK95050,DAA04907,EAW67563,AAI37039,Q6IEV3,Q8NGN2 Hs.553637 GDB:11506425 OR11-279 protein-coding 1353132 OR10T1P olfactory receptor, family 10, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79514 NG_002260 GDB:11506427 pseudo 1350212 OR10T2 olfactory receptor, family 10, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,16710414 128360 NM_001004475,AB065643,AL121986,BK004364,CH471121,CS248080 NP_001004475,BAC05869,CAI10867,DAA04762,EAW52827,CAJ56567,Q8NGX3,AAI56268,AAI57048 Hs.553588 GDB:11506429 OR1-3 protein-coding 1350638 OR10U1P olfactory receptor, family 10, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390318 NG_004344,AC090048 GDB:11504072 pseudo 1350461 OR10V1 olfactory receptor, family 10, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390201 NM_001005324,AB065807,AF399593,AP000640,BK004323,CH471076 NP_001005324,BAC06026,AAK95078,DAA04721,EAW73852,Q6IFD9,Q8NGI7 Hs.589001 GDB:11506431 OR11-256 protein-coding 1605030 OR10V2P olfactory receptor, family 10, subfamily V, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10737800 81343 NG_004248,AP000640 GDB:11506433 pseudo 1344207 OR10V3P olfactory receptor, family 10, subfamily V, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81342 NG_004247,AP000640 GDB:11506435 pseudo 1348477 OR10V7P olfactory receptor, family 10, subfamily V, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403225 NG_005817,AL355839 pseudo 1349715 OR10W1 olfactory receptor, family 10, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12975309,12477932 81341 NM_207374,AB065850,AP000435,BK004490,CH471076,AY358251,BC132848,BC132850 NP_997257,BAC06068,DAA04888,EAW73802,AAQ88618,AAI32849,AAI32851,Q8NGF6 Hs.531507 OR10W1P|OR10W1Q|OR11-236|UNQ6469 protein-coding 1342523 OR10X1 olfactory receptor, family 10, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052,12213199 128367 NM_001004477,AB065636,AF399455,AL160283,BK004194,BK004529,CH471121 NP_001004477,BAC05862,CAH72417,DAA04592,EAW52821,Q8NGY0 Hs.553589 OR1-13|OR1-14|OR10X1P protein-coding 1605031 OR10Y1P olfactory receptor, family 10, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81340 NG_004245,AP000640 GDB:11506439 pseudo 1350384 OR10Z1 olfactory receptor, family 10, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 128368 NM_001004478,AB065635,AL353894,BK004195,CH471121 NP_001004478,BAC05861,CAH73935,DAA04593,EAW52820,Q6IFR7,Q8NGY1 Hs.553590 GDB:11506441 OR1-15 protein-coding 1346770 OR11A1 olfactory receptor, family 11, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,14574404,12637542 26531 NM_013937,AC004174,AJ302614,AJ302615,AJ302616,AJ302617,AJ302618,AJ302619,AJ302620,AJ302621,AJ302622,AJ302623,AL645927,AL662869,BK004208,BX004810,BX927133,CH471081,CR388393,CR759768,CR848056,AJ459857,BC131608 NP_039225,CAC20534,CAC20535,CAC20536,CAC20537,CAC20538,CAC20539,CAC20540,CAC20541,CAC20542,CAC20543,CAI18053,CAI17484,DAA04606,CAI95547,CAQ10414,EAX03192,EAX03193,CAQ10822,CAQ09886,CAQ06865,CAD31040,AAI31609,Q9GZK7 Hs.676010 GDB:10795678 OR11A2|dJ994E9.6|hs6M1-18 protein-coding 1343821 OR11G1P olfactory receptor, family 11, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390438 NG_004352,AL163152 GDB:11506443 pseudo 1354303 OR11G2 olfactory receptor, family 11, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390439 NM_001005503,AB065897,AF399610,AL356019,BK004453 NP_001005503,BAC06113,AAK95095,DAA04851,Q6IF09,Q8NGC1,AAI48505 Hs.554582 GDB:11506445 OR14-34 protein-coding 1346649 OR11H1 olfactory receptor, family 11, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 81061 NM_001005239,AB065933,AF399611,AP000534,BK004492,CS248078 NP_001005239,BAC06148,AAK95096,DAA04890,CAJ56566,Q6IEX0,Q8IXE0,Q8NG94 Hs.554706 GDB:11508718 OR22-1 protein-coding 1604898 OR11H12 olfactory receptor, family 11, subfamily H, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 440153 NM_001013354,CR383656 NP_001013372 Hs.534880 protein-coding 1604896 OR11H13P olfactory receptor, family 11, subfamily H, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 440159 NG_004865,AB065941,AL589743,BK004794 BAC45263 ORNP-NP1 pseudo 1349951 OR11H2 olfactory receptor, family 11, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79334 NG_004141,AB065607,AL139799,AL512310,BK004489 Q8NH07,DAA04887 C14orf15|OR11H2P|OR11H8P pseudo 1343903 OR11H3P olfactory receptor, family 11, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81113 NG_004166,AC134980 GDB:11506449 pseudo 1345740 OR11H4 olfactory receptor, family 11, subfamily H, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390442 NM_001004479,AB065887,AL356019,BK004455,CH471078,CS248290,BC137055 NP_001004479,BAC06104,DAA04853,EAW66484,CAJ56668,AAI37056,Q8NGC9 Hs.553767 GDB:11502815 OR14-36 protein-coding 1352626 OR11H5P olfactory receptor, family 11, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390440 NG_004353,AL356019 GDB:11506451 pseudo 1344961 OR11H6 olfactory receptor, family 11, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 122748 NM_001004480,AB065889,AL356019,BK004454,CH471078,CS248288 NP_001004480,BAC06106,DAA04852,EAW66485,CAJ56667,Q8NGC7 Hs.553575 GDB:11502817 protein-coding 1346960 OR11H7P olfactory receptor, family 11, subfamily H, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 17973576 390441 NG_004354,AL356019 GDB:11506453 pseudo 1342728 OR11H8P olfactory receptor, family 11, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 326319 NG_002568,AB065607,AL512310 C14orf15 pseudo 1604779 OR11I1P olfactory receptor, family 11, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12644552,12213199 81479 NG_003221,AB065444 GDB:11504059 OR11I2P pseudo 1347910 OR11J1P olfactory receptor, family 11, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81111 NG_004165,AC134980 GDB:11506455 pseudo 1605617 OR11J2P olfactory receptor, family 11, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81110 NG_004164,AC037471 GDB:11506457 pseudo 1344426 OR11J5P olfactory receptor, family 11, subfamily J, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403226 NG_004403,AC037471 pseudo 1343705 OR11K1P olfactory receptor, family 11, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81109 AC134980,NG_004163,AB065906 BAC06121,Q8NGB5 GDB:11506459 pseudo 1345215 OR11K2P olfactory receptor, family 11, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401742 NG_004392,AL512310 GDB:11510948 pseudo 1342706 OR11L1 olfactory receptor, family 11, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 391189 NM_001001959,AB065646,AC099571,BK004461,CH471148 NP_001001959,BAC05872,DAA04859,EAW77204,Q6IF01,Q8NGX0 Hs.553781 GDB:11506461 protein-coding 1606176 OR11M1P olfactory receptor, family 11, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 121270 NG_004284,AC079951 GDB:11506463 pseudo 1349424 OR11N1P olfactory receptor, family 11, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392540 NG_004381,AL590806 GDB:11510950 pseudo 1351492 OR11P1P olfactory receptor, family 11, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282795 NG_004302,AL163152 GDB:11510951 pseudo 1353527 OR11Q1P olfactory receptor, family 11, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403227 NG_004404,AL603758 pseudo 1354423 OR12D1P olfactory receptor, family 12, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26530 NG_002196,AL035542,AL645927,AL662869,BX004810 GDB:10795680 OR12D1|hs6M1-19 pseudo 1345064 OR12D2 olfactory receptor, family 12, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,14574404,12637542,12477932,11282967 26529 NM_013936,AC004171,AL035542,AL645927,AL662869,BK004523,CH471081,AJ459861,BC069123,BC101742,BC101746 NP_039224,CAI18051,CAI17482,DAA04921,EAX03191,AAH69123,AAI01743,AAI01747,P58182,Q5SUN9 Hs.247862 GDB:10795682 DJ994E9.8|HS6M1-20|MGC126791|MGC126795 protein-coding 1352207 OR12D3 olfactory receptor, family 12, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,14574404,12637542,12477932 81797 NM_030959,AL096770,AL662781,AL732432,BK004439,BX927232,CH471081,CR388393,CR759808,CS248370,AJ459858,BC069082,BC069154,BC103892,BC106898 NP_112221,CAI18132,CAI17830,DAA04837,CAQ08990,EAX03190,CAQ10819,CAQ07997,CAJ56705,CAD31041,AAH69082,AAH69154,AAI03893,Q9UGF7 Hs.272280 GDB:11506465 MGC119267|MGC125888|hs6M1-27 protein-coding 1603609 OR13A1 olfactory receptor, family 13, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 15164054,14983052,12477932 79290 NM_001004297,AB065728,AC011879,AL512324,BK004287,CH471160,CS248138,AK131555,BC104853,BC104855 NP_001004297,BAC05949,DAA04685,EAW86641,CAJ56596,BAD18689,AAI04854,AAI04856,Q2M3M4,Q6ZMN6,Q8NGR1 Hs.532435 GDB:11506467 FLJ16797 protein-coding 1345206 OR13C1P olfactory receptor, family 13, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12906860,12213199 392377 NG_002246,AF399464,AL359846 GDB:11506469 OR37M pseudo 1345485 OR13C2 olfactory receptor, family 13, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052,12906860 392376 NM_001004481,AB065709,AL359846,BK004408,CH471105,CS248386 NP_001004481,BAC05931,CAH73574,DAA04806,EAW58987,CAJ56713,Q8NGS9 Hs.553789 GDB:11506471 OR37K protein-coding 1354005 OR13C3 olfactory receptor, family 13, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 15164053,14983052,12906860 138803 NM_001001961,AB065713,AL450426,BK004410,CH471105,BC136949,BC136952 NP_001001961,BAC05934,CAH72411,DAA04808,EAW58982,AAI36950,AAI36953,Q6IF52,Q8NGS6 Hs.553600 GDB:11506473 OR37G|OR9-8 protein-coding 1344868 OR13C4 olfactory receptor, family 13, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052,12906860,12213199,1370859 138804 NM_001001919,AB065714,AF399602,AL450426,BK004411,CH471105,CS248516,X64991 NP_001001919,BAC05935,AAK95087,CAH72410,DAA04809,EAW58981,CAJ56775,Q8NGS5,AAI48383,AAI53008 Hs.553601 GDB:11506475 HSHTPCRX17|HTPCRX17|OR2K1|OR37F|OR9-7 protein-coding 1347240 OR13C5 olfactory receptor, family 13, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052,12906860 138799 NM_001004482,AB065710,AL450426,BK004409,CH471105,CS248390,BC136843 NP_001004482,BAC05932,CAH72414,DAA04807,EAW58986,CAJ56715,AAI36844,Q8NGS8 Hs.553598 GDB:11506477 OR9-11 protein-coding 1351391 OR13C6P olfactory receptor, family 13, subfamily C, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12906860 392311 NG_004378,AL138834 GDB:11504075 OR37B pseudo 1351941 OR13C7P olfactory receptor, family 13, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12906860 81377 NG_002408,AL138834 GDB:11506479 OR13C7|OR37C|OST706 pseudo 1343666 OR13C8 olfactory receptor, family 13, subfamily C, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052,12906860,12213199 138802 CS248392,NM_001004483,AB065711,AF399599,AL450426,BK004607,CH471105 EAW58983,CAJ56716,Q8NGS7,AAI40248,AAI41626,NP_001004483,BAC05933,AAK95084,CAH72412 Hs.553599 GDB:11506481 OR37H|OR9-10 protein-coding 1353189 OR13C9 olfactory receptor, family 13, subfamily C, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12906860 286362 NM_001001956,AB065672,AB065708,AL359846,BK004250,CH471105,CS248224 NP_001001956,BAC05897,BAC05930,CAH73575,DAA04648,EAW58988,CAJ56637,Q6IFL2,Q8NGT0,Q8NGV4,AAI41487,AAI48771 Hs.553682 GDB:11506483 OR37L|OR9-13 protein-coding 1350154 OR13D1 olfactory receptor, family 13, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 286365 NM_001004484,AB065671,AL359846,BK004251,CH471105 NP_001004484,BAC05896,CAH73577,DAA04649,EAW58989,Q6IFL1,Q8NGV5 Hs.553683 GDB:11506485 OR9-15 protein-coding 1353917 OR13D2P olfactory receptor, family 13, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392375 NG_004380,AL450426 GDB:11506487 pseudo 1351506 OR13D3P olfactory receptor, family 13, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402374 NG_004400,AL359846 GDB:11506489 pseudo 1345751 OR13E1P olfactory receptor, family 13, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392308 NG_004377,AL133410 GDB:11504118 OR13E2|OST741 pseudo 1342816 OR13F1 olfactory receptor, family 13, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052 138805 NM_001004485,AB065715,AL450426,BK004412,CH471105,CS248394 NP_001004485,BAC05936,CAH72409,DAA04810,EAW58980,CAJ56717,Q8NGS4 Hs.553602 GDB:11506491 OR9-6 protein-coding 1349302 OR13G1 olfactory receptor, family 13, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 441933 NM_001005487,AB065623,AC026038,AL390860,BK004376,CH471148 NP_001005487,BAC05849,CAI16305,DAA04774,EAW77198,Q6IF86,Q8NGZ3 Hs.553834 GDB:11506493 OR1-37 protein-coding 1344200 OR13H1 olfactory receptor, family 13, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15772651,14983052,12908129,12213199,9268701,1840504,1370859 347468 NM_001004486,AB065938,AF399633,AL049734,AY284421,BK004524,CH471107 NP_001004486,BAC06153,AAK95118,CAI42350,DAA04922,EAX11790,Q8NG92 Hs.553711 GDB:11506495 ORX1 protein-coding 1346011 OR13I1P olfactory receptor, family 13, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79538 NG_004626,AL359846 GDB:11506497 OR13I2P pseudo 1347486 OR13J1 olfactory receptor, family 13, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052,12213199 392309 NM_001004487,AB065705,AF399603,AL133410,BK004442,CH471071,CS248084,AY726589 NP_001004487,BAC05928,AAK95088,CAI10998,DAA04840,EAW58323,CAJ56569,Q8NGT2 Hs.527480 GDB:11506499 OR9-2 protein-coding 1354025 OR13K1P olfactory receptor, family 13, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402424 NG_004632,AL355366 GDB:11506501 pseudo 1353038 OR13Z1P olfactory receptor, family 13, subfamily Z, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403228 NG_004405,AL590667 pseudo 1351866 OR13Z2P olfactory receptor, family 13, subfamily Z, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403229 NG_004406,AL590667 pseudo 1352260 OR13Z3P olfactory receptor, family 13, subfamily Z, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403230 NG_005818,AL590667 pseudo 1352394 OR14A16 olfactory receptor, family 14, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 284532 NM_001001966,AB065441,AC099571,BK004366,CH471148,CS248188 NP_001001966,BAC05708,DAA04764,EAW77203,CAJ56620,Q6IF96,Q8NHC5,AAI40461,AAI48710 Hs.626620 GDB:11507003 OR5AT1 protein-coding 1342601 OR14A2 olfactory receptor, family 14, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 388761 NG_002409,AB065620,AC026038,AC118470,AF399589 OR5AX1|OR5AX1P pseudo 1353060 OR14C36 olfactory receptor, family 14, subfamily C, member 36 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 127066 NM_001001918,AB065439,AL450303,BK004466,CH471148,CS248414 NP_001001918,BAC05706,CAH71667,DAA04864,EAW77223,CAJ56727,Q8NHC7 Hs.553583 GDB:11507041 OR5BF1 protein-coding 1349157 OR14I1 olfactory receptor, family 14, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401994 NM_001004734,AC098483,CH471257,BC137188,BC137189 NP_001004734,EAW57530,AAI37189,AAI37190,A6ND48 Hs.449973 OR5BU1|OR5BU1P protein-coding 1344262 OR14J1 olfactory receptor, family 14, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,14574404 442191 NM_030946,AL662781,AL662857,BK004441,CH471081,CR759808,BC136905 NP_112208,CAI18129,CAI17513,DAA04839,EAX03186,CAQ07994,AAI36906,Q9UGF5 Hs.632004 GDB:11507133 OR5U1|OR6-25|bA150A6.4|hs6M1-28 olfactory receptor, family 5, subfamily U, member 1|olfactory receptor, family 5, subfamily u member 1 protein-coding 1345029 OR14K1 olfactory receptor, family 14, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16939646,14983052,12213199,11337468 343170 NM_001004732,NG_007559,AB065624,AC118470,AF399590,BK004377,CH471148,CS248218 NP_001004732,BAC05850,AAK95075,DAA04775,EAW77201,CAJ56634 Hs.553706 GDB:11507013 OR1-39|OR1.5.9|OR5AY1 pseudo 1348185 OR14L1P olfactory receptor, family 14, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052 127617 NG_004286,AB065440,AL606804,BK004470,BK004700 BAC05707,DAA04868,Q6IEZ2,Q8NHC6 OR1-35|OR1-36|OR5AV1|OR5AV1P|RP11-978I15.6 pseudo 1351186 OR1A1 olfactory receptor, family 1, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17601748,14983052,12477932,12213199,10673334 8383 NM_014565,AC090282,AF087918,AF399555,BK004241,CH471108,BC069169,BC128248,BC141934,BC141935 NP_055380,AAF37311,AAK95040,DAA04639,EAW90520,AAH69169,AAI28249,AAI41935,AAI41936,Q6NTA9,Q9P1Q5 Hs.532688 GDB:9864993 OR17-7 protein-coding 1348312 OR1A2 olfactory receptor, family 1, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17601748,15489334,14983052,12477932,12213199,10673334 26189 AF155225,AC090282,AF399556,BK004242,CH471108,BC069092,BC106733,BC106734,NM_012352 NP_036484,AAD39545,AAK95041,DAA04640,EAW90521,AAH69092,AAI06734,AAI06735,Q9Y585 Hs.532660 GDB:10796100 MGC119930|MGC119931|OR17-6 protein-coding 1351262 OR1AA1P olfactory receptor, family 1, subfamily AA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79312 NG_002238,AL049734 GDB:11506503 pseudo 1344765 OR1AB1P olfactory receptor, family 1, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81090 NG_004627,AC008894 GDB:11506505 pseudo 1350079 OR1AC1P olfactory receptor, family 1, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403231 NG_005819,AC087498 pseudo 1342799 OR1B1 olfactory receptor, family 1, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 18328065,15164053,14983052 347169 NM_001004450,AB065723,AL162254,BK004229,CH471090 NP_001004450,BAC05944,CAI16289,DAA04627,EAW87539,Q8NGR6 Hs.553710 GDB:10795453 OR9-26|OR9-B protein-coding 1350511 OR1C1 olfactory receptor, family 1, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349,1580863 9119360,16939646,16710414,14983052,12213199 633349 26188 NM_012353,AB065625,AF399560,AL450999,BK004365,CH471148,CS248186,X89674 NP_036485,BAC05851,AAK95045,CAH70622,DAA04763,EAW77202,CAJ56619,CAA61821,Q15619 Hs.381306 GDB:11506507 HSTPCR27|OR1-42|OR1.5.10|ORL211|TPCR27 protein-coding 1353920 OR1D2 olfactory receptor, family 1, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 68281,1580863 8004088,8097991,1370859,15489334,14983052,12663925,12477932,12213199,10673334,8665947,1840504,1315913 68281 4991 NM_002548,AC097370,AF087917,AF399535,BK004244,CH471108,U04678,U53583,X65857,BC069552,BC106735,BC106736 NP_002539,AAF37310,AAK95020,DAA04642,EAW90524,AAA18343,AAC99554,CAA46687,AAH69552,AAI06736,AAI06737,P34982 Hs.532771 GDB:136274 MGC119942|MGC119943|OLFR1|OR17-4 protein-coding 1344146 OR1D3P olfactory receptor, family 1, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,10673334,9787077,8004088 8384 NG_002298,AB065571,AB065606,AC090282,AF065866,AF065868,AF087919,AF399371,U04679,U04685 GDB:9864996 OR11-13|OR11-22|OR17-23|OR1D6P|OR1D7P pseudo 1346947 OR1D4 olfactory receptor, family 1, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 8004088,14983052,12477932,12213199,10673334 8385 NM_003552,AF087922,AF399534,BK004240,U04681 NP_003543,AAF37312,AAK95019,DAA04638,AAA18345,P47884,Q147T4,Q6IFL7,Q6IFM2,Q9UDD9 Hs.553508 GDB:9864998 MGC125396|OR17-30 protein-coding 1344373 OR1D5 olfactory receptor, family 1, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 1315913,14983052,12477932,12213199,10673334 8386 NM_014566,AC097370,AF087923,AF399533,BK004245,CS248334,U53930,BC106876 NP_055381,AAF37313,AAK95018,DAA04643,CAJ56690,AAD10841,AAI06877,A0AUK4,P58170,AAI52940 Hs.553508 GDB:9865000 OR17-2|OR17-30|OR17-31 protein-coding 1347689 OR1E1 olfactory receptor, family 1, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 1370859,14983052,12213199,10706615,10673334,9500546,8004088 8387 AC087498,AF052041,AF087916,AF095725,AF179761,AF399550,BK004237,BK004353,CH471108,U04642,U04682,NM_003553,U78308,U86222,U86274,X64994 NP_003544,AAD17495,AAF37309,AAF03261,AAF40350,AAK95035,DAA04635,DAA04751,EAW90515,AAA17447,AAA18346,AAD00276,AAC39613,AAC39629,CAA46127,P30953,Q6IFM5,Q9NZP3,AAI66630 Hs.278485 GDB:9865002 HGM071|OR13-66|OR17-2|OR17-32|OR1E5|OR1E6|OR1E8P|OR1E9P|OST547 protein-coding 1347026 OR1E2 olfactory receptor, family 1, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 8004088,15489334,14983052,12477932,12213199,10673334,9500546,804088 8388 NM_003554,AF087925,AF095725,AF399551,BK004235,BK004352,CH471108,CS248560,U04686,U76377,U86241,U86242,BC121105,BC121106 NP_003545,AAF37315,AAF03260,AAK95036,DAA04633,DAA04750,EAW90513,CAJ56797,AAA18349,AAD00249,AAC39621,AAC39622,AAI21106,AAI21107,P47887,Q6IFB0,Q6IFM7 Hs.533931 GDB:9865004 OR17-135|OR17-93|OR1E4|OR1E7|OST529 protein-coding 1351004 OR1E3P olfactory receptor, family 1, subfamily E, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 12379593,10673334,8004088 8389 NG_002151,AC097370,AF087929,U04690,U53583 AAC99555,Q8WZA6,Q9UM77 GDB:9865006 OR17-210 pseudo 1348262 OR1F1 olfactory receptor, family 1, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9500546,15489334,14983052,12477932,12213199,9653642,9288094 4992 CH471112,U86234,U86235,U86236,U86237,U86238,U86239,U86264,BC069335,Y14442,NM_012360,AB065907,AF399559,AJ003147,BK004247 DAA04645,EAW85391,AAC39614,AAC39615,AAC39616,AAC39617,AAC39618,AAC39619,AAC39627,AAH69335,CAA74794,O43749,O43871,O43872,O43873,O43874,O43875,NP_036492,BAC06122,AAK95044,CAA05903 Hs.664502 GDB:9834032 OLFMF|OR16-36|OR16-37|OR16-88|OR16-89|OR16-90|OR1F10|OR1F13P|OR1F4|OR1F5|OR1F6|OR1F7|OR1F8|OR1F9|OR3-145|ORL1023 protein-coding 1606624 OR1F12P olfactory receptor, family 1, subfamily F, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 442179 NG_004691,AB065468,AL121944,BK004273 BAC05727,DAA04671,Q6IFI9,Q8NHA8 OR1F12|OR1F12Q|OR6-12|hs6M1-35P pseudo 1353348 OR1F2P olfactory receptor, family 1, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,9653642,1370859 26184 NR_002169,AF091512,AF399558,AJ003147,BK004665,AJ003145,X64987 Q96R84 Hs.651203 GDB:11506517 OLFMF2|OR16-3|OR1F11|OR1F2|OR1F3P|hg91 pseudo 1321692 OR1G1 olfactory receptor, family 1, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 8004088,15489334,14983052,12477932,12379593,10673334,9500546 8390 BC095520,NM_003555,AC097370,AF087928,BK004243,CH471108,U04689,U53583,U86240,BC069379 AAH95520,O43876,P47890,Q6IFL9,NP_003546,AAF37317,DAA04641,EAW90523,AAA18352,AAC99556,AAC39620,AAH69379 Hs.248183 GDB:9865008 OR17-130|OR17-209|OR1G2 protein-coding 1349478 OR1H1P olfactory receptor, family 1, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26742 NG_004138,AL162254 GDB:10795458 OR1H1|OST26 pseudo 1350140 OR1I1 olfactory receptor, family 1, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 15057824,12213199 126370 NM_001004713,AC004794,AF399548,CH471106,BC140930 NP_001004713,AAC18915,AAK95033,EAW84460,AAI40931,O60431 Hs.631610 GDB:10796516 OR19-20|OR1I1P|OR1I1Q protein-coding 1346374 OR1J1 olfactory receptor, family 1, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052,12213199 347168 NM_001004451,AB065716,AF399554,AL359636,BK004452,CH471090,BC136933,BC136938 NP_001004451,BAC05937,AAK95039,CAM45734,DAA04850,EAW87532,AAI36934,AAI36939,Q8NGS3 Hs.632692 GDB:10795459 OR9-18|hg32 protein-coding 1347114 OR1J2 olfactory receptor, family 1, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14702039,12908129,12213199,1370859,10706615,14983052 26740 AY283961,AY283962,AY283963,AY283964,AY283965,AY283966,AY283967,AY283968,AY283969,AY283970,AY283971,AY283972,BK004448,CH471090,CS248548,AK123016,X64989,NM_054107,AB065717,AF179760,AF179767,AF399552,AL359636,AY283941,AY283942,AY283943,AY283944,AY283945,AY283946,AY283947,AY283948,AY283949,AY283950,AY283951,AY283952,AY283953,AY283954,AY283955,AY283956,AY283957,AY283958,AY283959,AY283960 AAP32498,AAP32499,AAP32500,AAP32501,AAP32502,AAP32503,AAP32504,AAP32505,AAP32506,AAP32507,AAP32508,AAP32509,AAP32510,DAA04846,EAW87531,CAJ56791,Q86SF3,Q86SG8,Q8NGS2,Q9NZP4,AAI40249,AAI46523,NP_473448,BAC05938,AAF40349,AAF40352,AAK95037,CAM45735,AAP32479,AAP32480,AAP32481,AAP32482,AAP32483,AAP32484,AAP32485,AAP32486,AAP32487,AAP32488,AAP32489,AAP32490,AAP32491,AAP32492,AAP32493,AAP32494,AAP32495,AAP32496,AAP32497 Hs.460145 GDB:10795460 FLJ16828|HG152|HSA5|OR1J3|OR1J5|OR9-19|OST044 protein-coding 1354380 OR1J4 olfactory receptor, family 1, subfamily J, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,1370859 26219 NM_001004452,AB065718,AF399553,AL359636,BK004469,CH471090,CS248174,BC131606,X64979 NP_001004452,BAC05939,AAK95038,CAM45736,DAA04867,EAW87533,CAJ56614,AAI31607,Q8NGS1 Hs.632679 GDB:11506519 HSHTPCRX01|HTPCRX01|OR9-21 protein-coding 1352434 OR1K1 olfactory receptor, family 1, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 12213199 392392 NM_080859,AB065726,AF399622,AL359512,CH471090,CS248372 NP_543135,BAC05947,AAK95107,CAI94957,EAW87545,CAJ56706,Q8NGR3 Hs.632681 GDB:10795462 hg99 protein-coding 1352426 OR1L1 olfactory receptor, family 1, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 26737 NM_001005236,AB065491,AL162254,BK004230,CH471090 NP_001005236,BAC05743,CAI16290,DAA04628,EAW87540,Q5T7Z3,Q6IFN2,Q8NH94,AAI46391,AAI53161 Hs.567736 GDB:10795463 HG23|OR1L2|OR9-27|OR9-C protein-coding 1342778 OR1L3 olfactory receptor, family 1, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15164053,14983052 26735 AB065492,AL162254,BK004231,CH471090,CS248170,BC136857,BC136859,NM_001005234 NP_001005234,BAC05744,CAI16291,DAA04629,EAW87541,CAJ56612,AAI36858,AAI36860,Q8NH93 Hs.626839 GDB:10795466 OR9-28|OR9-D protein-coding 1352858 OR1L4 olfactory receptor, family 1, subfamily L, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 254973 NM_001005235,AB065724,AC006313,AF399562,BK004232,CH471090 NP_001005235,BAC05945,AAK95047,DAA04630,EAW87542,Q6IFN0,Q8NGR5 Hs.626838 GDB:10795468 OR1L5|OR9-29|OR9-E|OST046 protein-coding 1344733 OR1L6 olfactory receptor, family 1, subfamily L, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 392390 NM_001004453,AB065727,AC006313,AF399563,BK004234,CH471090 NP_001004453,BAC05948,AAK95048,DAA04632,EAW87543,Q6IFM8,Q8NGR2 Hs.553790 GDB:10795471 HG16|OR1L7|OR9-30 protein-coding 1351781 OR1L8 olfactory receptor, family 1, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 138881 NM_001004454,AB065721,AF399564,AL359636,BK004447,CH471090,CS248176 NP_001004454,BAC05942,AAK95049,CAM45739,DAA04845,EAW87536,CAJ56615,Q8NGR8 Hs.632695 GDB:11506523 OR9-24 protein-coding 1350413 OR1M1 olfactory receptor, family 1, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 125963 NM_001004456,AB065925,AC011464,AF399549,BK004269,CH471106,BC137551 NP_001004456,BAC06140,AAK95034,DAA04667,EAW84006,AAI37552,Q6IFJ3,Q8NGA1 Hs.553577 GDB:10795474 OR19-5|OR19-6 protein-coding 1346076 OR1M4P olfactory receptor, family 1, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403232 NG_004407,AC016584 pseudo 1351301 OR1N1 olfactory receptor, family 1, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,9500546 138883 NM_012363,AB065719,AF399547,AL359636,BK004446,CH471090,CS248172,U86216 NP_036495,BAC05940,AAK95032,CAM45737,DAA04844,EAW87534,CAJ56613,AAC39612,Q8NGS0,AAI56679 Hs.553604 GDB:11506525 OR1-26|OR1N3|OR9-22 protein-coding 1347218 OR1N2 olfactory receptor, family 1, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 138882 NM_001004457,AB065720,AF399536,AL359636,BK004445,CH471090,BC137182,BC137183 NP_001004457,BAC05941,AAK95021,CAM45738,DAA04843,EAW87535,AAI37183,AAI37184,Q6IF17,Q8NGR9 Hs.632682 GDB:11506527 OR9-23 protein-coding 1347497 OR1P1P olfactory receptor, family 1, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16625196,14983052,12730696,12213199,10673334 8391 NG_002153,AC097370,AF087927 Q8NH06 GDB:9865010 OR17-208|OR1P1 pseudo 1345044 OR1Q1 olfactory receptor, family 1, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9119360,14983052,12213199 158131 NM_012364,AB065722,AF399561,AL162254,BK004228,CH471090,X89667 NP_036496,BAC05943,AAK95046,CAI16288,DAA04626,EAW87538,CAA61814,Q15612 Hs.684864 GDB:10795476 HSTPCR106|OR1Q2|OR1Q3|OR9-25|OR9-A|OST226|OST226OR9-A|TPCR106 protein-coding 1352741 OR1R1P olfactory receptor, family 1, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10673334 9596 NG_002302,AC087498,AF087915,U78308 GDB:9865014 OR17-01|OR17-1|OR1R2P|OR1R3P|OR20A1P pseudo 1343888 OR1S1 olfactory receptor, family 1, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 219959 NM_001004458,AB065493,AP004247,BK004299,CH471076 NP_001004458,BAC05745,DAA04697,EAW73800,Q6IFG3,Q8NH92 Hs.553645 GDB:10795479 OR11-232|OST034 protein-coding 1344670 OR1S2 olfactory receptor, family 1, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 219958 AP004247,BK004297,CH471076,CS248102,NM_001004459,AB065736,AF399557 DAA04695,EAW73799,CAJ56578,Q6IFG5,Q8NGQ3,NP_001004459,BAC05957,AAK95042 Hs.553644 GDB:11506535 OR11-231 protein-coding 1605486 OR1X1P olfactory receptor, family 1, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402236 NG_004630,AC139491 GDB:11506537 pseudo 1347631 OR1X5P olfactory receptor, family 1, subfamily X, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402240 NG_004631,AC140125 pseudo 1352035 OR2A1 olfactory receptor, family 2, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199,10737800 346528 NM_001005287,AC074386,AF399597,BK004217,BK004418 NP_001005287,AAK95082,DAA04615,DAA04816 Hs.528398 GDB:10795480 protein-coding 1346557 OR2A12 olfactory receptor, family 2, subfamily A, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12690205,12644552,12213199 346525 NM_001004135,AB065694,AC091768,AF399462,AF546378,AF546391,BK004419,CH236959,CH878732 NP_001004135,BAC05917,DAA04817,EAL23798,EAW55631,Q8NGT7 Hs.553708 GDB:11506543 OR2A12P|OR2A16P protein-coding 1350322 OR2A13P olfactory receptor, family 2, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392140 NG_004375,AB065691,AC091768,CH236959 GDB:11506545 pseudo 1344604 OR2A14 olfactory receptor, family 2, subfamily A, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 135941 NM_001001659,AB065693,AC091768,AF399596,BK004421,CH236959,CH878732 NP_001001659,BAC05916,AAK95081,DAA04819,EAL23799,EAW55633,Q96R47 Hs.534547 OR2A14P|OR2A6|OST182 protein-coding 1346785 OR2A15P olfactory receptor, family 2, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 135942 NG_004290,AC091768,CH236959 GDB:11506549 OR2A23P|OR2A28P pseudo 1348102 OR2A2 olfactory receptor, family 2, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12853948,12213199 442361 NM_001005480,AB065695,AC091768,AF399459,BK004420,CH236959,CH878732,BC136742 NP_001005480,BAC05918,DAA04818,EAW55632,AAI36743,Q6IF42 Hs.553841 OR2A17P|OR2A2P|OR7-11|OST008 protein-coding 1601907 OR2A20P olfactory receptor, family 2, subfamily A, member 20 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12477932 401428 NR_002158,AC004889,BK004757,AF327904,AK172840,BC016940 Hs.490448,Hs.591830 OR2A20 pseudo 1343005 OR2A25 olfactory receptor, family 2, subfamily A, member 25 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392138 NM_001004488,AC091768,CH236959,CH878732,BC136814,BC136829 NP_001004488,EAL23797,EAW55630,AAI36815,AAI36830,A4D2G3 Hs.553787 OR2A24P|OR2A25P|OR2A27 protein-coding 1343745 OR2A3P olfactory receptor, family 2, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 202861 NG_004292,AB065480,AF399461,CH236959 GDB:10795482 OR2A18P pseudo 1352196 OR2A4 olfactory receptor, family 2, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12477932,10737800 79541 O95047 NM_030908,AC005587,AL135904,AL157377,BK004444,BC120953,BC120954 NP_112170,AAD05193,CAB99212,CAC05481,DAA04842,AAI20954,AAI20955,O95047 Hs.486488 GDB:11506557 OR2A10 protein-coding 1346511 OR2A41P olfactory receptor, family 2, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 403234 NG_004408,AC091768,CH236959 pseudo 1343723 OR2A42 olfactory receptor, family 2, subfamily A, member 42 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 402317 NM_001001802,AB065692,AC004889 NP_001001802,BAC05915,Q8NGT9 Hs.632027 protein-coding 1343457 OR2A5 olfactory receptor, family 2, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9500546 393046 NM_012365,AB065477,AB065610,AC091768,AF399595,CH236959,CH878732,U86278,U86281 NP_036497,BAC05731,BAC05837,AAK95080,EAW55629,AAC39630,AAC39633,Q8N0W0,Q96R48 Hs.553793 GDB:11506559 OR2A11P|OR2A26|OR2A8|OR7-138|OR7-141 protein-coding 1348744 OR2A7 olfactory receptor, family 2, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 401427 NM_001005328,AC004889,AF399598,BK004218,BK004610,AF327904,BC136704,BC136711 NP_001005328,AAK95083,DAA04616,AAG50283,AAI36705,AAI36712,Q96R45,Q9BZC5 Hs.490448,Hs.658609 GDB:10795484 HSDJ0798C17|OR2A21 protein-coding 1351644 OR2A9P olfactory receptor, family 2, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12644552,12477932,12213199,10737800,9847074,9500546,7566098 441295 NR_002157,AB065610,AB065477,AC074386,AF399463,AF546392,U86282,AF327904,AK172840,BC016940 Hs.490448,Hs.591830 GDB:10795485 FKSG35|HSDJ0798C17|OR2A19|OR2A22P|OR2A9 pseudo 1345178 OR2AD1P olfactory receptor, family 2, subfamily AD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79313 NG_002239,AL662791,AL662865,AL929561,Z84476 GDB:11506561 OR2AD1|hs6M1-8P pseudo 1344866 OR2AE1 olfactory receptor, family 2, subfamily AE, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16314882,9847074 81392 NM_001005276,NG_000004,AB065478,AC011904,CH236956,CH471091,CS248242,BC137375,BC137376 NP_001005276,BAC05732,EAW76629,CAJ56646,AAI37376,AAI37377,Q8NHA4 Hs.647523 GDB:11506563 OR2AE2 protein-coding 1348446 OR2AF1P olfactory receptor, family 2, subfamily AF, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79331 NG_002257,AL109853 GDB:11506565 OR2AF2P pseudo 1351829 OR2AG1 olfactory receptor, family 2, subfamily AG, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 17005854,16565291,14983052,12213199,11416212 144125 NM_001004489,AB065823,AC087280,AF321237,AF399618,BK004295,CH471064,CS248194 NP_001004489,BAC06042,AAG45209,AAK95103,DAA04693,EAW68677,CAJ56623,Q6IFG7,Q9H205 Hs.553608 GDB:11506569 OR11-79|OR2AG3 protein-coding 1351300 OR2AG2 olfactory receptor, family 2, subfamily AG, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 338755 NM_001004490,AB065539,AC091564,AF399487,BK004747,CH471064 NP_001004490,EAW68678 Hs.534614 GDB:11506571 OR11-76|OR2AG2P protein-coding 1350840 OR2AH1P olfactory receptor, family 2, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81336 NG_004244,AP004245 GDB:11504111 pseudo 1606720 OR2AI1P olfactory receptor, family 2, subfamily AI, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 134082 NG_004289,AC122714 GDB:11506573 pseudo 1606466 OR2AJ1 olfactory receptor, family 2, subfamily AJ, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 127608 NG_004652,AB065626,AC099571,BK004621 BAC05852,Q8NGZ0 OR2AJ1P|OR2AJ1Q pseudo 1343468 OR2AK2 olfactory receptor, family 2, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 391191 NM_001004491,AB065951,AC099570,BK004457,CH471148,BC136816 NP_001004491,BAC06164,DAA04855,EAW77212,AAI36817,Q8NG84 Hs.690413 GDB:11510962 OR1-47|OR2AK1P protein-coding 1353667 OR2AL1P olfactory receptor, family 2, subfamily AL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79547 NG_002273,AC017094,AP003181 GDB:11506579 pseudo 1348816 OR2AM1P olfactory receptor, family 2, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12906860 81366 NG_004255,AL138834 GDB:11506581 OR37E pseudo 1352298 OR2AO1P olfactory receptor, family 2, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 403235 NG_004409,AC004889,CH236959 pseudo 1344568 OR2AP1 olfactory receptor, family 2, subfamily AP, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 121129 NG_004283,AB065868,AC009779,BK004260 BAC06086,DAA04658,Q8NGE2 OR2AP1P pseudo 1604780 OR2AQ1P olfactory receptor, family 2, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81474 NG_004276,AL513205 GDB:11506587 pseudo 1345677 OR2AS1P olfactory receptor, family 2, subfamily AS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81473 NG_004705,AC098483 GDB:11506591 pseudo 1344295 OR2AS2P olfactory receptor, family 2, subfamily AS, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403236 NG_004706,AC138089 pseudo 1344508 OR2AT1P olfactory receptor, family 2, subfamily AT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390225 NG_004338,AP001972 GDB:11504077 pseudo 1351251 OR2AT2P olfactory receptor, family 2, subfamily AT, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390224 NG_004337,AP003175 GDB:11510963 pseudo 1348041 OR2AT4 olfactory receptor, family 2, subfamily AT, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 341152 NM_001005285,AP003175,BK004820 NP_001005285 Hs.554515 GDB:11510965 OR11-265 protein-coding 1349718 OR2B11 olfactory receptor, family 2, subfamily B, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414 127623 NG_007509,AL606804,CH471148,BC137205,NM_001004492 CAI17145,EAW77188,AAI37206,Q5JQS5,NP_001004492 Hs.446999 protein-coding 733998 OR2B2 olfactory receptor, family 2, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,14574404 81697 NM_033057,AJ302584,AJ302585,AJ302586,AJ302587,AJ302588,AJ302589,AJ302590,AJ302591,AJ302592,AJ302593,BK004361,CH471081,Z98744,BC136881 NP_149046,CAC20504,CAC20505,CAC20506,CAC20507,CAC20508,CAC20509,CAC20510,CAC20511,CAC20512,CAC20513,DAA04759,EAX03125,CAD24079,AAI36882,Q6IFA1,Q9GZK3 Hs.553551 GDB:11506595 OR2B2Q|OR2B9|OR6-1|dJ193B12.4|hs6M1-10 olfactory receptor protein-coding 1351242 OR2B3P olfactory receptor, family 2, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,14574404,12213199 442184 NM_001005226,AF399632,AJ302537,AJ302538,AJ302539,AJ302540,AJ302541,AJ302542,AJ302543,AJ302544,AJ302545,AJ302546,AL662791,AL662852,AL929561,BK004436,BX248093,BX248413,CH471081,CR388407,CR547123,CR933783,CR942175 NP_001005226,AAK95117,CAC20462,CAC20463,CAC20464,CAC20465,CAC20466,CAC20467,CAC20468,CAC20469,CAC20470,CAC20471,CAI18246,CAI17592,CAI41771,DAA04834,CAM26131,CAM26050,EAX03182,CAQ07169,CAQ06964,CAQ08042,CAQ07978,O76000 Hs.553835 GDB:10795486 6M1-1|OR2B3|OR6-14|OR6-4 protein-coding 1348346 OR2B4P olfactory receptor, family 2, subfamily B, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 442190 NG_004686,AB065472,AF399496,AL662781,AL662857 GDB:10795488 hs6M1-22 pseudo 1346885 OR2B6 olfactory receptor, family 2, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,14574404,12477932,9500546 26212 NM_012367,AL133267,BK004373,CH471081,CS248082,U86270,U86275,BC109251,BC110457 NP_036499,CAC14158,DAA04771,EAX03127,CAJ56568,AAC39628,AAI09252,AAI10458,P58173 Hs.532145 GDB:10796680 MGC120190|MGC129828|OR2B1|OR2B1P|OR2B5|OR2B6P|OR5-40|OR5-41|OR6-31|dJ408B20.2 protein-coding 1344530 OR2B7P olfactory receptor, family 2, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81695 NG_004280,AL121944 GDB:11504079 hs6M1-31P pseudo 1346989 OR2B8P olfactory receptor, family 2, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 65944 NG_003194,AC025941 OR2B8|OR6-10|dJ313I6.4|hs6M1-29P pseudo 1350969 OR2BH1P olfactory receptor, family 2, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403238 NG_004410,AC027465 pseudo 1342915 OR2C1 olfactory receptor, family 2, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9847080,15489334,14983052,12477932 4993 NM_012368,AF098664,BK004407,BK004428,CH471112,BC069158,BC069456,BC126269,BC130328 NP_036500,AAC83557,DAA04805,DAA04826,EAW85373,AAH69158,AAH69456,AAI26270,AAI30329,A0AVA4,O95371,Q6IF55,Q6NTB3 Hs.258574 GDB:9848773 MGC163200|MGC95444|OLFmf3|OR2C2P protein-coding 1346992 OR2C3 olfactory receptor, family 2, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,15489334,14983052,12477932,12213199 81472 NM_198074,AB065649,AF399495,AL606804,BK004471,BC030717 NP_932340,BAC05875,CAI17147,DAA04869,AAH30717,Q6IEZ1,Q8N628,ABM86441,ABW03797 Hs.23491 GDB:11506601 OR2C4|OR2C5P|OST742 protein-coding 1345086 OR2D2 olfactory receptor, family 2, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9787077,14983052,12213199 120776 NM_003700,AB065824,AC087280,AF065876,AF321237,AF399591,BK004434,CH471064 NP_003691,BAC06043,AAC70020,AAG45204,AAK95076,DAA04832,EAW68673,Q8NGH4,Q9H210 Hs.690210 GDB:9955767 OR11-610|OR2D1|hg27 protein-coding 1354348 OR2D3 olfactory receptor, family 2, subfamily D, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 120775 NM_001004684,AB065825,AC090160,AF399592,BK004294,CH471064,BC137209 NP_001004684,BAC06044,AAK95077,DAA04692,EAW68672,AAI37210,Q6IFG8,Q8NGH3 Hs.446766 GDB:11506603 OR11-89 protein-coding 1345854 OR2E1P olfactory receptor, family 2, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 26719 NG_004088,AC005678 GDB:10795491 HS29K1|HSNH0569I24|OR2E1|OR2E2|hs6M1-9|hs6M1-9p pseudo 1350512 OR2F1 olfactory receptor, family 2, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9500546,15489334,14983052,12853948,12690205,12637542,12477932,12213199,9017400 26211 NM_012369,AC004853,AF399594,BK004215,CH236959,CH878732,U56421,U86279,U86280,AJ459869,BC104975 NP_036501,AAC64376,AAK95079,DAA04613,EAL23795,EAW55625,AAB01215,AAC39631,AAC39632,AAI04976,O43886,O43887,Q13607 Hs.553595 GDB:11506605 OLF3|OR14-60|OR2F3|OR2F3P|OR2F4|OR2F5|OR7-139|OR7-140 protein-coding 1349873 OR2F2 olfactory receptor, family 2, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12853948,12690205 135948 NM_001004685,AC004853,BK004214,CH236959,CH878732,BC136812,BC136813 NP_001004685,DAA04612,EAL23794,EAW55624,AAI36813,AAI36814,O95006 Hs.553596 GDB:10795492 OR7-1 protein-coding 1353058 OR2G1P olfactory receptor, family 2, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 26717 NG_004689,AL645937,AL662857,AL935156,BK004668 GDB:10795494 OR6-22|OST619|hs6M1-25 pseudo 1346302 OR2G2 olfactory receptor, family 2, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 81470 NM_001001915,AB065621,AL606804,BK004472,CH471148 NP_001001915,BAC05847,CAI17150,DAA04870,EAW77195,Q8NGZ5 Hs.690208 GDB:11506607 OR1-32 protein-coding 1343786 OR2G3 olfactory receptor, family 2, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 81469 NM_001001914,AB065622,AL606804,BK004417,CH471148,CS248398,BC136712,BC136713 NP_001001914,BAC05848,CAI17151,DAA04815,EAW77196,CAJ56719,AAI36713,AAI36714,Q8NGZ4 Hs.653227 GDB:11506609 OR1-33 protein-coding 1603468 OR2G6 olfactory receptor, family 2, subfamily G, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414 391211 NM_001013355,BX537158,CH471148,BC137245,BC137266 NP_001013373,EAW77231,AAI37246,AAI37267,Q5TZ20 Hs.553784 protein-coding 1353217 OR2H1 olfactory receptor, family 2, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,14574404,12637542,12477932 26716 AJ302605,AJ302606,AJ302607,AJ302608,AJ302609,AJ302610,AJ302611,AJ302612,AJ302613,AL035542,AL645927,AL662869,BK004209,BX000531,BX247947,CH471081,AJ459845,AJ459846,AJ459847,AJ459849,BC036097,BC048991,NM_030883,AC004178,AF042073,AF042074,AF042078,AF044491,AF044492,AF044493,AJ302604 CAC20524,CAC20525,CAC20526,CAC20527,CAC20528,CAC20529,CAC20530,CAC20531,CAC20532,CAC20533,CAB44506,CAI18055,CAI17486,DAA04607,CAI18457,CAM26161,EAX03195,EAX03196,CAD31037,CAD31038,CAD31039,AAH48991,O43624,O43625,Q8IU63,Q9GZK4,NP_112145,AAB97429,AAB97430,AAC00184,AAC00188,AAC00189 Hs.434715,Hs.686942 GDB:10795496 6M1-16|HS6M1-16|OLFR42A-9004-14|OR2H6|OR2H8|OR6-2|dJ994E9.4 protein-coding 1348875 OR2H2 olfactory receptor, family 2, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 7665158,17971048,15489334,14983052,14574404,12637542,12477932,12213199,11282967,10880742,8662070 7932 NM_007160,AB065965,AF211939,AF211940,AF211941,AF211942,AF399631,AL645936,AL662826,BK004225,BX000688,CH471081,CR759870,L35475,AJ459831,AJ459832,AJ459839,BC069146,BC101683,BC112176 NP_009091,BAC06177,AAF98751,AAF98752,AAF98753,AAF98754,AAK95116,CAI18013,CAI17387,DAA04623,CAI18602,EAX03204,CAQ09876,AAB36567,AAH69146,AAI01684,AAI12177,O95918,Q5RJ87,Q5SUK1,Q6IFN7,ABZ92454 Hs.529493,Hs.697691 GDB:10795498 FAT11|MGC126732|MGC138381|OLFR2|OLFR42B|OR2H3|dJ271M21.2|hs6M1-12 protein-coding 1350767 OR2H4P olfactory receptor, family 2, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 442189 NG_004685,AB065473,AJ302634,AL022727,AL645937,AL662857,AL935156,BK004723 GDB:10796684 6M1-7P|OR2H4|OR6-21|OR6-3|dJ80I19.6|hs6M1-7 pseudo 1349294 OR2H5P olfactory receptor, family 2, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 26713 BK004662,BX000688,NG_002319,AB065470,AF042075,AF042076,AF042077,AL645936,AL662826,BK004545 O43626,O43627,O43628,AAB97431,AAB97432,AAB97433 GDB:10796686 HS271M21|OLFR 42B|OLFR42B|OR2H5|OR2H7|OR6-33|OR6-35|hs6M1-13 pseudo 1606622 OR2I1P olfactory receptor, family 2, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 442197 NG_004688,AB065686,AL645936,AL662826,BK004540,BK004661,BX000688 BAC05909,Q8NGU4 GDB:10795502 HS6M1-14|OR2I1|OR2I2|OR2I3P|OR2I4P|OR2I5P|OR2I6|OR2I7P|OR2I8P|OR2I9P|OR6-1|OR6-34 pseudo 1606623 OR2J1 olfactory receptor, family 2, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 442185 NG_004683,AJ302565,AJ302566,AJ302567,AJ302568,AJ302569,AJ302570,AL022727,AL645937,AL662852,AL929561,BK004663 CAC20485,CAC20486,CAC20487,CAC20488,CAC20489,CAC20490,CAI18101,Q9GZK6 6M1-4P|OR2J1P|OR6-15|OR6-5|dJ80I19.2|hs6M1-4 pseudo 1353815 OR2J2 olfactory receptor, family 2, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16939646,15489334,14983052,14574404,12637542,12477932,11337468 26707 AJ302573,AJ302574,AJ302575,AJ302576,AJ302577,AJ302578,AJ302579,AJ302580,AJ302581,AJ302582,AJ302583,AL645937,AL662852,AL935156,BK004438,BX248093,CH471081,AJ459862,BC069121,BC108896,BC108897,BC108898,BC108899,BU171389,NM_030905,AJ302571,AJ302572 CAC20493,CAC20494,CAC20495,CAC20496,CAC20497,CAC20498,CAC20499,CAC20500,CAC20501,CAC20502,CAC20503,CAI18104,CAI17596,CAI18469,DAA04836,CAM26135,EAX03185,AAH69121,AAI08897,AAI08898,AAI08899,AAI08900,O76002,Q5ST39,Q5SUJ6,NP_112167,CAC20491,CAC20492 Hs.163518 GDB:10795506 MGC119134|MGC119135|MGC119136|MGC119137|OR6-19|OR6-8|OR6.3.8|ORL684|dJ80I19.4|hs6M1-6 protein-coding 1351141 OR2J3 olfactory receptor, family 2, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16939646,14983052,14574404,12213199,11337468 442186 NM_001005216,AF399630,AJ302547,AJ302548,AJ302549,AJ302550,AJ302551,AJ302552,AJ302553,AJ302554,AJ302555,AJ302556,AJ302557,AJ302558,AL645937,AL662852,AL929561,BK004437,BX248093 NP_001005216,AAK95115,CAC20472,CAC20473,CAC20474,CAC20475,CAC20476,CAC21440,CAC21441,CAC21442,CAC21443,CAC21444,CAC20477,CAC20478,CAI18102,CAI17594,CAI41773,DAA04835,CAM26133,O76001,Q5SUJ7 GDB:10795508 6M1-3|HS6M1-3|OR6-16|OR6-6|OR6.3.6|ORL671 protein-coding 1349778 OR2J4P olfactory receptor, family 2, subfamily J, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 442188 NG_004684,AB065683,AL022727,AL645937,AL662852,AL935156,BK004756 BAC05906,Q8NGU6 GDB:10795510 OR6-20|OR6-9|dJ80I19.5|hs6M1-5 pseudo 1342486 OR2K2 olfactory receptor, family 2, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17010214,15489334,15164053,14983052,12477932,1370859 26248 AB065707,AL354661,NM_205859,BK004277,CH471105,BC111086,X64977 NP_995581,BAC05929,CAH73239,DAA04675,EAW59071,AAI11087,Q6IFI5,Q8NGT1 Hs.381312 GDB:10796689 HSHTPCRH06|HTPCRH06|MGC133152|OR2AN1P|OR2AR1P protein-coding 1348735 OR2L13 olfactory receptor, family 2, subfamily L, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,15489334,12477932 284521 NM_175911,AC099570,AC099571,AL513488,CH471148,BC028158 NP_787107,CAH70427,EAW77210,AAH28158,Q8N349 Hs.372936 MGC40047|OR2L14 protein-coding 1346691 OR2L1P olfactory receptor, family 2, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859 26247 AB065442,AC099570,X64980,NR_002145 Hs.684887 HSHTPCRX02|HTPCRX02|OR2L1|OR2L7P pseudo 1347355 OR2L2 olfactory receptor, family 2, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,12477932,1370859 26246 NM_001004686,AB065597,AC099570,BK004752,CH471148,BC104792,BC104794,X64978 EAW77214,NP_001004686,BAC05825,AAI04793,AAI04795,Q8NH16 Hs.684888 GDB:10795394 HSHTPCRH07|HTPCRH07|OR1-48|OR2L12|OR2L4P protein-coding 1345416 OR2L3 olfactory receptor, family 2, subfamily L, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 391192 NM_001004687,AB065950,AC099570,CH471148 NP_001004687,BAC06163,EAW77215,Q8NG85 Hs.690412 GDB:11506615 protein-coding 1346281 OR2L5 olfactory receptor, family 2, subfamily L, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81466 NG_004275,AB065956,AC099570,BK004458 BAC06169,DAA04856,Q8NG80 OR2L11|OR2L5P pseudo 1348407 OR2L6P olfactory receptor, family 2, subfamily L, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81465 AC099570,NG_004274 GDB:11506621 pseudo 1349762 OR2L8 olfactory receptor, family 2, subfamily L, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 391190 CH471148,NM_001001963,AB065627,AC099571,BK004459 DAA04857,EAW77211,Q8NGY9,NP_001001963,BAC05853 Hs.690212 GDB:11506625 protein-coding 1351011 OR2L9P olfactory receptor, family 2, subfamily L, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81462 NG_004273,AC099570 GDB:11506627 pseudo 1351985 OR2M1P olfactory receptor, family 2, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,11705801 388762 NR_002141,AF399615,AL592313,AF308814 Hs.528509 JCG10|OR2M1|OST037 pseudo 1351720 OR2M2 olfactory receptor, family 2, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,12213199 391194 NM_001004688,AF399616,AL592313,CH471148 NP_001004688,AAK95101,CAM45730,EAW77217,Q96R28 Hs.534728 GDB:10795513 OR2M2Q|OST423 protein-coding 1343135 OR2M3 olfactory receptor, family 2, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052,12213199 127062 NM_001004689,AB065952,AF399483,AL450303,BK004482,CH471148,CS248608 NP_001004689,BAC06165,CAH71662,DAA04880,EAW77218,CAJ56820,Q8NG83 Hs.553581 OR1-54|OR2M3P|OR2M6|OST003 protein-coding 1347987 OR2M4 olfactory receptor, family 2, subfamily M, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349 9119360,16710414,14983052,12213199,1370859 633349 26245 NM_017504,AB065953,AF399617,AL450303,BK004483,CH471148,CS248606,X64992,X89666 NP_059974,BAC06166,AAK95102,CAH71663,DAA04881,EAW77219,CAJ56819,CAA61813,Q96R27,AAI41462,AAI48719 Hs.381309 GDB:10796690 HSHTPCRX18|HTPCRX18|OR1-55|OST710|TPCR100 protein-coding 1351101 OR2M5 olfactory receptor, family 2, subfamily M, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 127059 NM_001004690,AL592313,CH471148 NP_001004690,CAM45729,EAW77216,A3KFT3 Hs.553580 OR2M5P protein-coding 1352477 OR2M7 olfactory receptor, family 2, subfamily M, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 391196 NM_001004691,AB065954,AL450303,BK004486,CH471148,CS248612,BC136944,BC136946 NP_001004691,BAC06167,CAH71666,DAA04884,EAW77222,CAJ56822,AAI36945,AAI36947,Q8NG81 Hs.530570 GDB:11510974 OR1-58 protein-coding 1343159 OR2N1P olfactory receptor, family 2, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 26701 NG_002216,AJ132194,AL645937,AL662852,AL929561,BK004435 CAA10602,DAA04833,O95499 GDB:10795515 HS6M1-2|OLFR89|OR6-7 pseudo 1344769 OR2P1P olfactory receptor, family 2, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 442183 NG_004693,AL662791,AL662852,AL929561 GDB:10795517 hs6M1-26 pseudo 1604950 OR2Q1P olfactory receptor, family 2, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9847074 346524 NG_004310,AF399458,CH236959 GDB:10795519 OR7-2 pseudo 1349463 OR2R1P olfactory receptor, family 2, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 392132 NG_004373,AB065481,AC073264,AF399457,CH236959 GDB:11506629 OR2R1|OST058 pseudo 1352301 OR2S1P olfactory receptor, family 2, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12906860 392313 NG_004379,AL138834 GDB:10795521 OR37D|OST611 pseudo 1346182 OR2S2 olfactory receptor, family 2, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 10452948,15489334,15164053,14983052,12906860,12477932,12213199 56656 NM_019897,AF399601,AL135841,BK004443,CH471071,BC104869,BC113651 NP_063950,AAK95086,CAB96728,DAA04841,EAW58320,AAI04870,AAI13652,Q9NQN1 Hs.553540 GDB:10796518 OR37A|OST715 protein-coding 1353113 OR2T1 olfactory receptor, family 2, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,9500546 26696 NM_030904,AC138089,AF399613,BK004463,CH471148,U86215 NP_112166,AAK95098,DAA04861,EAW77226,AAC39611,O43869,AAI48404 Hs.626885 GDB:10795522 OR1-25 protein-coding 1353621 OR2T10 olfactory receptor, family 2, subfamily T, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 127069 CH471257,NM_001004693,AB065616,AC098483,BK004478 DAA04876,EAW57528,Q8NGZ9,NP_001004693,BAC05843 Hs.553585 GDB:11510975 OR1-64 protein-coding 1349543 OR2T11 olfactory receptor, family 2, subfamily T, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 127077 NM_001001964,AB065614,AC098483,BK004476,CH471257 NP_001001964,BAC05841,DAA04874,EAW57529,Q8NH01 Hs.626619 GDB:11510976 OR2T11Q protein-coding 1350170 OR2T12 olfactory receptor, family 2, subfamily T, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 127064 NM_001004692,AB065960,AL450303,BK004485,CH471148,CS248610 NP_001004692,BAC06172,CAH71665,DAA04883,EAW77221,CAJ56821,Q8NG77 Hs.553582 GDB:11510977 OR1-57 protein-coding 1346426 OR2T2 olfactory receptor, family 2, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052,12213199 401992 NM_001004136,AC138089,AF399479,BK004462,CS248406 Q6IF00,NP_001004136,DAA04860,CAJ56723 Hs.554482 GDB:11506631 OR1-43|OR2T2P protein-coding 1350912 OR2T27 olfactory receptor, family 2, subfamily T, member 27 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 403239 NM_001001824,AB065611,AC098483,BK004474 NP_001001824,BAC05838,DAA04872,Q8NH04 Hs.553814 protein-coding 1342637 OR2T29 olfactory receptor, family 2, subfamily T, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 343563 Q8NH02 NM_001004694,AB065613,AC098483 NP_001004694,BAC05840,Q8NH02 Hs.553707 protein-coding 1349827 OR2T3 olfactory receptor, family 2, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414 343173 NM_001005495,AB065612,AC138089 NP_001005495,BAC05839,Q8NH03 Hs.554481 GDB:11506633 protein-coding 1349717 OR2T32P olfactory receptor, family 2, subfamily T, member 32 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403241 NG_004411,AL513488 pseudo 1343251 OR2T33 olfactory receptor, family 2, subfamily T, member 33 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 391195 NM_001004695,AB065961,AL450303,BK004484,CH471148,CS248614,BC136995 NP_001004695,BAC06173,CAH71664,DAA04882,EAW77220,CAJ56823,AAI36996,Q8NG76 Hs.553783 OR1-56 protein-coding 1345089 OR2T34 olfactory receptor, family 2, subfamily T, member 34 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052,12213199 127068 NM_001001821,AB065645,AC098483,AF399612,BK004477 NP_001001821,BAC05871,AAK95097,DAA04875,Q8NGX1 Hs.553584 protein-coding 1354420 OR2T35 olfactory receptor, family 2, subfamily T, member 35 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 403244 XM_001713871,NM_001001827,AB065644,AC098483,BK004475 NP_001001827,XP_001713923,BAC05870,DAA04873,Q8NGX2,AAI56816 Hs.534846 protein-coding 1351833 OR2T4 olfactory receptor, family 2, subfamily T, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 127074 NM_001004696,AB065615,AC138089,BK004464,CH471148 NP_001004696,BAC05842,DAA04862,EAW77224,Q8NH00 Hs.553586 GDB:11506635 OR1-60|OR2T4Q protein-coding 1351819 OR2T5 olfactory receptor, family 2, subfamily T, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052 401993 NM_001004697,AC138089,BK004465,CS248408 NP_001004697,DAA04863,CAJ56724,Q6IEZ7 Hs.553808 GDB:11506637 OR1-62 protein-coding 1343167 OR2T6 olfactory receptor, family 2, subfamily T, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 254879 NM_001005471,AB065438,AC138089,AF399481,CH471148 NP_001005471,BAC05705,EAW77225,Q8NHC8 Hs.626884 OR2T6P|OR2T9|OST703 protein-coding 1347656 OR2T7 olfactory receptor, family 2, subfamily T, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81458 NG_004272,AC138089 OR2T7P|OST723 pseudo 1351258 OR2T8 olfactory receptor, family 2, subfamily T, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 343172 NM_001005522,AC099570,AC099571,AF399488,CH471148 NP_001005522,EAW77208,A6NH00 Hs.521114 OR2T8P protein-coding 1348617 OR2U1P olfactory receptor, family 2, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26695 NG_004625,AL050339 GDB:10795524 OR2AU1P|hs6M1-24 pseudo 1350632 OR2U2P olfactory receptor, family 2, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 26694 NG_004687,AL662857,AL672167,BK004666 GDB:10795526 OR6-24|hs6M1-23 pseudo 1605397 OR2V1 olfactory receptor, family 2, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26693 NG_004137,AB065465,AC008620 BAC05724,Q8NHB1 OR2V1P|OST265 pseudo 1342510 OR2V2 olfactory receptor, family 2, subfamily V, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 285659 NM_206880,AB065675,AF399614,BK004246,CH471165,CS248284 NP_996763,BAC05900,AAK95099,DAA04644,EAW53721,CAJ56665,Q96R30 Hs.553681 GDB:11506643 OR2V3|OST713 protein-coding 1348465 OR2W1 olfactory receptor, family 2, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,14574404,12477932,12213199 26692 AL929561,BK004522,BX248413,BX927167,CH471081,CR759835,CR759957,CR936923,BC103870,BC103871,BC103872,NM_030903,AF399628,AJ302594,AJ302595,AJ302596,AJ302597,AJ302598,AJ302599,AJ302600,AJ302601,AJ302602,AJ302603,AL035402,AL662791,AL662865 CAI41643,CAI41768,DAA04920,CAM26052,CAQ07643,EAX03179,EAX03180,EAX03181,CAQ08425,CAQ07349,CAQ07834,AAI03871,AAI03872,AAI03873,Q9Y3N9,NP_112165,AAK95113,CAC20514,CAC20515,CAC20516,CAC20517,CAC20518,CAC20519,CAC20520,CAC20521,CAC20522,CAC20523,CAI18243 Hs.553526 GDB:10795529 MGC119162|MGC119163|MGC119165|hs6M1-15 protein-coding 1351010 OR2W2P olfactory receptor, family 2, subfamily W, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81694 NG_004279,AL121944 GDB:11504039 hs6M1-30P pseudo 1343372 OR2W3 olfactory receptor, family 2, subfamily W, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,8889549 343171 NM_001001957,AB065949,AC099571,AF399491,BK004456,CH471148,BC146848 NP_001001957,BAC06162,DAA04854,EAW77207,AAI46849,Q7Z3T1 Hs.269151 OR2W3P|OR2W8P|OST718 protein-coding 1343741 OR2W4P olfactory receptor, family 2, subfamily W, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81407 NG_004261,AL133267 GDB:11504043 pseudo 1351652 OR2W5 olfactory receptor, family 2, subfamily W, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 441932 NM_001004698,AF399492,AL606804,BC137204 NP_001004698,AAI37205 Hs.591526 OR2W5P|OST722 protein-coding 1349332 OR2W6P olfactory receptor, family 2, subfamily W, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81406 NG_004260,AL133267 GDB:11504041 OR2W7P pseudo 1347514 OR2X1P olfactory receptor, family 2, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403245 NG_004412,AC099571 pseudo 1606719 OR2Y1 olfactory receptor, family 2, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 134083 NM_001001657,AB065676,AC023255,AC113427,AF399629,BK004351,CH471165 NP_001001657,BAC05901,AAK95114,DAA04749,EAW53748,Q8NGV0 Hs.554719 GDB:11506647 OR5-2 protein-coding 1347587 OR2Z1 olfactory receptor, family 2, subfamily Z, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 284383 NM_001004699,AB065930,AC012616,AF399619,BK004262,CH471139,CS248148 NP_001004699,BAC06145,AAK95104,DAA04660,EAW68902,CAJ56601,Q8NG97 Hs.553675 GDB:11506649 OR19-4|OR2Z2 protein-coding 1347194 OR3A1 olfactory receptor, family 3, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 8647456,8921386,16980412,15489334,14983052,12477932,10673334,8004088 4994 NM_002550,AC087498,AF087924,BK004238,CH471108,U04683,U04684,X80391,BC069414,BC096187,BC096188,BC096189,BC096190 NP_002541,AAF37314,DAA04636,EAW90518,AAA18347,AAA18348,CAA56602,AAH69414,AAH96187,AAH96188,AAH96189,AAH96190,P47881,Q6I941 Hs.647410 GDB:3750074 OLFRA03|OR17-40|OR17-82|OR40 protein-coding 1350655 OR3A2 olfactory receptor, family 3, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 8921386,14983052,12477932,10673334,9500546,8004088 4995 NM_002551,AC087498,AF087930,BK004239,CH471108,U04713,U86244,BC095517 NP_002542,AAF37318,DAA04637,EAW90516,AAA17448,AAC39624,AAH95517,O43879,P47893,Q6IFM3 Hs.647414 GDB:3750075 OLFRA04|OR17-14|OR17-228|OR228 protein-coding 1352676 OR3A3 olfactory receptor, family 3, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 8004088,16625196,14983052,12644552,12477932,12213199,10673334,9500546 8392 NM_012373,AF087926,AF095725,AF399620,BK004236,CH471108,U04688,U76377,U78308,U86243,U86245,BC069415,BC108921 NP_036505,AAF37316,AAF03262,AAK95105,DAA04634,EAW90514,AAA18351,AAD00250,AAD00277,AAC39623,AAC39625,AAH69415,AAI08922,O43878,O43880,P47888,Q2VPE4,Q6IFM6 Hs.532689 GDB:9865012 OR17-137|OR17-16|OR17-201|OR3A6|OR3A7|OR3A8P protein-coding 1349592 OR3A4 olfactory receptor, family 3, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 8004088,14983052,12213199,10673334,8921386 390756 NM_001005334,AC002085,AC007194,AC023106,AC087498,AF087920,AF087921,AF399621,BK004695,BK004725,CH471108,U04680,U58675,BC136875 NP_001005334,AAK95106,EAW90517,AAA18344,AAI36876,P47883 Hs.632245 GDB:3750076 OLFRA05|OLFRA06|OR17-13|OR17-16|OR17-24|OR17-25|OR24|OR25|OR3A4P|OR3A5P protein-coding 1352129 OR3B1P olfactory receptor, family 3, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11709543,11410370 392561 NG_004382,AF277315 GDB:11506655 pseudo 1604133 OR3D1P olfactory receptor, family 3, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504175 NG_004862,AL390860 pseudo 1347633 OR4A10P olfactory receptor, family 4, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390138 NG_004334,AP005639 GDB:11506657 OR4A25P pseudo 1606645 OR4A11P olfactory receptor, family 4, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390136 NG_004332,AP005639 GDB:11504155 pseudo 1343682 OR4A12P olfactory receptor, family 4, subfamily A, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81331 NG_004243,AP005639 GDB:11504157 pseudo 1349174 OR4A13P olfactory receptor, family 4, subfamily A, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81330 NG_004242,AB065596,AP005639 BAC05824,Q8NH17 GDB:11504159 pseudo 1343479 OR4A14P olfactory receptor, family 4, subfamily A, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81329 NG_004241,AP005639 GDB:11504161 pseudo 1348504 OR4A15 olfactory receptor, family 4, subfamily A, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 81328 NM_001005275,AB065776,AF399578,AP005639,BK004248,CH471076 NP_001005275,BAC05996,AAK95063,DAA04646,EAW73673,Q8NGL6 Hs.554529 GDB:11506659 OR11-118 protein-coding 1344335 OR4A16 olfactory receptor, family 4, subfamily A, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 81327 NM_001005274,AB065519,AP005639,BK004249,CH471076 NP_001005274,BAC05767,DAA04647,EAW73672,Q8NH70 Hs.554530 GDB:11506661 OR11-117|OR4A16Q protein-coding 1348174 OR4A17P olfactory receptor, family 4, subfamily A, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390139 NG_004335,AP005639 GDB:11504163 OR4A22P pseudo 1348979 OR4A18P olfactory receptor, family 4, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81325 NG_004240,AC110057,AP006587 GDB:11504105 pseudo 1347184 OR4A19P olfactory receptor, family 4, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81324 NG_004239,AC110057,AP006587 GDB:11506663 pseudo 1352559 OR4A1P olfactory receptor, family 4, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9787077 8596 NG_002173,AF065869,AP006587,U73642 GDB:9955764 OR11-30|OR4A20P pseudo 1342703 OR4A21P olfactory receptor, family 4, subfamily A, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81322 NG_004238,AP001998 GDB:11504037 pseudo 1352952 OR4A2P olfactory receptor, family 4, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390133 NG_004330,AC126345 GDB:11504047 pseudo 1343490 OR4A3P olfactory receptor, family 4, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81320 NG_004237,AC126345 GDB:11506665 pseudo 1351538 OR4A40P olfactory receptor, family 4, subfamily A, member 40 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390116 NG_004327,AC134982 pseudo 1353965 OR4A41P olfactory receptor, family 4, subfamily A, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403247 NG_004413,AC134982 pseudo 1351624 OR4A42P olfactory receptor, family 4, subfamily A, member 42 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403248 NG_004414,AC134982 pseudo 1353670 OR4A43P olfactory receptor, family 4, subfamily A, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390117 NG_004328,AC134982 pseudo 1342603 OR4A44P olfactory receptor, family 4, subfamily A, member 44 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403250 NG_004415,AC134982 pseudo 1353185 OR4A45P olfactory receptor, family 4, subfamily A, member 45 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403251 NG_004416,AC134982 pseudo 1352595 OR4A46P olfactory receptor, family 4, subfamily A, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403252 NG_004417,AC134982 pseudo 1351568 OR4A47 olfactory receptor, family 4, subfamily A, member 47 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,16554811,12213199 403253 NM_001005512,AC134982,BK004380 NP_001005512,DAA04778,Q6IF82 Hs.554532 OR11-113 protein-coding 1348461 OR4A48P olfactory receptor, family 4, subfamily A, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403254 NG_004418,AC134982 pseudo 1354456 OR4A49P olfactory receptor, family 4, subfamily A, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403255 NG_004419,AC110057,AP006587 pseudo 1342615 OR4A4P olfactory receptor, family 4, subfamily A, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390134 NG_004331,AB065752,AC126345,BK004379,CS248434 BAC05972,DAA04777,CAJ56737,Q8NGN8 OR4A4 pseudo 1343611 OR4A5 olfactory receptor, family 4, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16554811,14983052 81318 NM_001005272,AB065506,AC087377,BK004378,CH471076,CS248436 NP_001005272,BAC05754,DAA04776,EAW73669,CAJ56738,Q8NH83 Hs.554531 GDB:11506669 OR11-111 protein-coding 1345225 OR4A50P olfactory receptor, family 4, subfamily A, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403256 NG_004420,AP005639 pseudo 1353001 OR4A6P olfactory receptor, family 4, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390131 NG_004329,AC087377 GDB:11504167 pseudo 1348023 OR4A7P olfactory receptor, family 4, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81316 NG_004236,AC087377 GDB:11504169 pseudo 1349506 OR4A8P olfactory receptor, family 4, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81315 NG_004235,AC087377 GDB:11504171 pseudo 1350231 OR4A9P olfactory receptor, family 4, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390137 NG_004333,AP005639 GDB:11504173 pseudo 1352354 OR4B1 olfactory receptor, family 4, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 119765 AB065848,AC026975,AF399579,BK004387,CH471064,CS248254,NM_001005470 NP_001005470,BAC06066,AAK95064,DAA04785,EAW67872,CAJ56651,Q8NGF8 Hs.553566 GDB:10795531 OR11-106|OST208 protein-coding 1350665 OR4B2P olfactory receptor, family 4, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26690 NG_004136,AC026975 GDB:10795533 hg449 pseudo 1350510 OR4C10P olfactory receptor, family 4, subfamily C, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79526 NG_002264,AC023080,AP002509 GDB:11506671 pseudo 1354381 OR4C11 olfactory receptor, family 4, subfamily C, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 219429 NM_001004700,AB065774,AP006437,BK004503,CH471076 NP_001004700,BAC05994,DAA04901,EAW73676,Q6IEV9 Hs.553620 OR11-136|OR4C11P protein-coding 1350996 OR4C12 olfactory receptor, family 4, subfamily C, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 283093 NM_001005270,AB065505,AC110057,AF399576,AP006622,BK004413,CH471064 NP_001005270,BAC05753,AAK95061,DAA04811,EAW67852,Q8NH84,Q96R67 Hs.553669 GDB:11506673 OR11-259 protein-coding 1342612 OR4C13 olfactory receptor, family 4, subfamily C, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 283092 NM_001001955,AB065750,AC110057,AF399575,AP006587,BK004414,CH471064 NP_001001955,BAC05970,AAK95060,DAA04812,EAW67853,Q8NGP0 Hs.553668 GDB:11506675 protein-coding 1350316 OR4C14P olfactory receptor, family 4, subfamily C, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81310 NG_004234,AP001998 GDB:11506677 pseudo 1352775 OR4C15 olfactory receptor, family 4, subfamily C, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81309 NM_001001920,AB065771,AP001998,BK004319,BK004320,CH471076 NP_001001920,BAC05991,DAA04717,DAA04718,EAW73674,Q8NGM1 Hs.589003 GDB:11506679 OR11-127|OR11-134 protein-coding 1349325 OR4C16 olfactory receptor, family 4, subfamily C, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16554811,14983052 219428 NM_001004701,AB065773,AP001998,BK004504,CH471076,CS248152 NP_001004701,BAC05993,DAA04902,EAW73675,CAJ56603,Q8NGL9 Hs.553619 GDB:11506681 OR11-135 protein-coding 1345209 OR4C17P olfactory receptor, family 4, subfamily C, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 406873 NG_004441,AC023080 OR4C17|OR4C47P pseudo 1347275 OR4C1P olfactory receptor, family 4, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859 26242 NG_002184,AC021304,X64985 Hs.550274 GDB:10796695 HSHTPCRX11|HTPCRX11|OR4C1 pseudo 1353535 OR4C2P olfactory receptor, family 4, subfamily C, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 119750 NG_002250,AB065547,AB065568,AC023080,BK004694,BK004807 GDB:11504031 OR4C8P pseudo 1342934 OR4C3 olfactory receptor, family 4, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 256144 NM_001004702,AB065567,AC023080,BK004349,CH471064,BC136853,BC136854 NP_001004702,BAC05803,DAA04747,EAW67868,AAI36854,AAI36855,Q8NH37 Hs.553656 GDB:11506683 OR11-98 protein-coding 1346442 OR4C45 olfactory receptor, family 4, subfamily C, member 45 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403257 NM_001005513,AC110057 NP_001005513,A6NMZ5,AAI52968,AAI56622 Hs.554533 protein-coding 1343294 OR4C46 olfactory receptor, family 4, subfamily C, member 46 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 119749 NM_001004703,AC126345 NP_001004703,A6NHA9 Hs.553564 protein-coding 1349390 OR4C48P olfactory receptor, family 4, subfamily C, member 48 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403259 NG_004421,AC110057 pseudo 1351373 OR4C49P olfactory receptor, family 4, subfamily C, member 49 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403260 NG_004422,AC110057 pseudo 1353434 OR4C4P olfactory receptor, family 4, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79550 NG_002275,AC023080 GDB:11504033 OR4C17 pseudo 1353934 OR4C5 olfactory receptor, family 4, subfamily C, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79346 NG_002247,AC023080 Q8NGB2 OR4C5P|OR4C5Q pseudo 1348715 OR4C50P olfactory receptor, family 4, subfamily C, member 50 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 256190 NG_004295,AC126345 pseudo 1345291 OR4C6 olfactory receptor, family 4, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219432 NM_001004704,AB065517,AC022289,AP006437,BK004330,CH471076,CS248114,BC137216,BC137218,CR593785 NP_001004704,BAC05765,DAA04728,EAW73679,CAJ56584,AAI37217,AAI37219,Q8NH72 Hs.511921 GDB:11506685 OR11-138 protein-coding 1353782 OR4C7P olfactory receptor, family 4, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79294 NG_002229,AC126345,AP002491 GDB:11506687 pseudo 1350174 OR4C9P olfactory receptor, family 4, subfamily C, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79530 NG_002267,AC134982,AP002509 GDB:11506689 pseudo 1346867 OR4D1 olfactory receptor, family 4, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349,1580863 9119360,14983052,12213199 633349 26689 NM_012374,AB065489,AB065913,AC005962,AF399567,BK004544,CH471109,BC136595,X89670 NP_036506,BAC05741,BAC06128,AAK95052,EAW94482,AAI36596,CAA61817,Q15615,Q8NH96 Hs.531188 GDB:10795535 OR17-23|OR4D3|OR4D4P|TPCR16 protein-coding 1348576 OR4D10 olfactory receptor, family 4, subfamily D, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12644552,12213199 390197 NM_001004705,AB065808,AB065809,AF399442,AF546476,AP003778,BK004311,CH471076,CS248280,BC136893,BC136894 NP_001004705,BAC06027,BAC06028,DAA04709,EAW73846,CAJ56663,AAI36894,AAI36895,Q8NGI5,Q8NGI6 Hs.553756 OR11-251|OR4D10P|OST711 protein-coding 1351925 OR4D11 olfactory receptor, family 4, subfamily D, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219986 NM_001004706,AB065810,AF399440,AP003778,BK004688,CH471076 NP_001004706,BAC06029,EAW73847,Q8NGI4 Hs.553651 OR4D11P protein-coding 1349155 OR4D12P olfactory receptor, family 4, subfamily D, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 282754 NG_004296,AC011744 GDB:11510983 OR7E103P pseudo 1344303 OR4D2 olfactory receptor, family 4, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,16625196,14983052 124538 NM_001004707,AB065912,AC005962,AF399568,BK004224,CH471109,AF303373 NP_001004707,BAC06127,AAK95053,DAA04622,EAW94481,AAL26785,P58180,AAI41569,AAI46584 Hs.446879 GDB:10795537 BC2009|OR17-24 protein-coding 1343066 OR4D5 olfactory receptor, family 4, subfamily D, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219875 NM_001001965,AB065760,AP002407,BK004316,CH471065,CS248096 NP_001001965,BAC05980,DAA04714,EAW67561,CAJ56575,Q8NGN0 Hs.553639 GDB:11506691 OR11-276 protein-coding 1345921 OR4D6 olfactory receptor, family 4, subfamily D, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219983 NM_001004708,AB065803,AF399569,AP003778,BK004307,CH471076,CS248282 CAJ56664,Q8NGJ1,NP_001004708,BAC06022,AAK95054,DAA04705,EAW73845 Hs.553650 GDB:11506693 OR11-250 protein-coding 1344452 OR4D7P olfactory receptor, family 4, subfamily D, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81304 NG_004233,AP003778 GDB:11506695 OST724 pseudo 1350642 OR4D8P olfactory receptor, family 4, subfamily D, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 401696 NG_004232,AB065809,AF399441,AP003778,BK004568 GDB:11504012 pseudo 1606644 OR4D9 olfactory receptor, family 4, subfamily D, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16554811,14983052 390199 NM_001004711,AB065861,AP003778,BK004309,CH471076 NP_001004711,BAC06079,DAA04707,EAW73848,Q8NGE8 Hs.553757 GDB:11506697 OR11-253 protein-coding 1344385 OR4E1P olfactory receptor, family 4, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9110172,8188290 26687 NG_001332,AE000658 GDB:10795539 pseudo 1352705 OR4E2 olfactory receptor, family 4, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,9110172,8188290 26686 NM_001001912,NG_001332,AB065895,AE000658,AF399581,BK004526,CH471078,AY726598 NP_001001912,BAC06111,AAK95066,DAA04924,EAW66372,Q8NGC2,AAI46415,AAI48854 Hs.547982 GDB:10795540 OR14-42 protein-coding 1343961 OR4F13P olfactory receptor, family 4, subfamily F, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390651 NG_004357,AB065564,AC107977 GDB:11506703 pseudo 1605190 OR4F14P olfactory receptor, family 4, subfamily F, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390650 AC107977,NG_004356,AB065901 BAC06117 OR4F14 pseudo 1351117 OR4F15 olfactory receptor, family 4, subfamily F, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12908129,12213199 390649 NM_001001674,AB065900,AC107977,AF399573,AY284005,AY284006,AY284007,AY284008,AY284009,AY284010,AY284011,AY284012,AY284013,AY284014,AY284019,AY284020,AY284021,AY284022,AY284023,AY284024,AY284025,AY284026,AY284027,AY284028,AY284029,AY284030,AY284031,AY284032,AY284033,AY284034,AY284035,AY284036,BK004405,CH471101,BC137065,AY284015,AY284016,AY284017,AY284018 NP_001001674,BAC06116,AAK95058,AAP32511,AAP32512,AAP32513,AAP32514,AAP32515,AAP32516,AAP32517,AAP32518,AAP32519,AAP32520,AAP32524,AAP32525,AAP32526,AAP32527,AAP32528,AAP32529,AAP32530,AAP32531,AAP32532,AAP32533,AAP32534,AAP32535,AAP32536,AAP32537,AAP32538,AAP32539,AAP32540,AAP32541,AAP32542,DAA04803,EAX02320,AAI37066,Q86SF1,Q86SF4,Q86SI3,Q8NGB8,AAP32521,AAP32522,AAP32523 Hs.554589 GDB:11506707 protein-coding 1349131 OR4F16 olfactory receptor, family 4, subfamily F, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,16421571,14983052 81399 NM_001005277,AC114498,BK004481 NP_001005277,DAA04879,Q6IEY1 Hs.632360 GDB:11506709 OR1-1|OR7-21 protein-coding 1345738 OR4F17 olfactory receptor, family 4, subfamily F, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 11689484,11689483,9384599 81099 NM_001005240,AB065917,AC008977,AY972818 NP_001005240,BAC06132,AAX86698,Q52R93,Q8NGA8 Hs.572591 GDB:11506711 OR4F11P|OR4F18|OR4F19 protein-coding 1347170 OR4F1P olfactory receptor, family 4, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 26685 NG_004134,AL353654 GDB:11506715 HSDJ0609N19|OR4F1 pseudo 1354367 OR4F21 olfactory receptor, family 4, subfamily F, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 441308 NM_001005504,AC004908,AC131281 NP_001005504,AAD05195,O95013 Hs.690459 OR4F21P protein-coding 1348924 OR4F28P olfactory receptor, family 4, subfamily F, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390652 NG_004358,AC107977 pseudo 1344305 OR4F29 olfactory receptor, family 4, subfamily F, member 29 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,16421571,14983052 729759 NM_001005221,AL732372 NP_001005221,CAI22294,Q6IEY1,Q8NGN9 Hs.712091 OR7-21 protein-coding 1354132 OR4F2P olfactory receptor, family 4, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390028 NG_004259,AC069287 GDB:10796696 HS191N21|OR4F2|S191N21|hs6M1-11 pseudo 1353024 OR4F3 olfactory receptor, family 4, subfamily F, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 26683 NM_001005224,AC138030,AC139237 Q6IEY1,NP_001005224 Hs.712091 GDB:10795541 protein-coding 1350427 OR4F4 olfactory receptor, family 4, subfamily F, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,11689484,11689483,9384599 26682 NM_001004195,AC140725,AF270636,AF399574,BK004223,AY972817,AY972819 NP_001004195,AAK95059,DAA04621,AAX86697,AAX86699,Q52R92,Q52R94,Q96R69 Hs.554420 GDB:10795542 OLA-7501|OR4F18 protein-coding 1346395 OR4F5 olfactory receptor, family 4, subfamily F, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 79501 Q8NH21 NM_001005484,XM_001123390,AB065592,AL627309 NP_001005484,XP_001123390,BAC05820,CAH72838,Q8NH21 Hs.554500 GDB:11506717 protein-coding 1343983 OR4F6 olfactory receptor, family 4, subfamily F, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390648 NM_001005326,AB065899,AC107977,BK004367,CH471101,CS248262,AY792621 NP_001005326,BAC06115,DAA04765,EAX02319,CAJ56655,AAY34251,Q32VQ0,Q8NGB9 Hs.553399,Hs.578689 GDB:11506719 GPCRLTM7|OR15-15|OR4F12 protein-coding 1605029 OR4F7P olfactory receptor, family 4, subfamily F, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 81390 NG_004682,AL031259 GDB:11506721 OR4F10 pseudo 1344483 OR4F8P olfactory receptor, family 4, subfamily F, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390872 NG_004359,AC010509,AC016626 GDB:11506723 OR4F20P|OR4F9P pseudo 1354219 OR4G11P olfactory receptor, family 4, subfamily G, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403263 NG_004423,AL627309 pseudo 1351007 OR4G1P olfactory receptor, family 4, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9384599 26681 NG_004133,AC005605,AC008977 GDB:10795543 OLB|OR4G8P pseudo 1348522 OR4G2P olfactory receptor, family 4, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26680 NG_003201,AB065964,AC140725,AF282024 GDB:10795545 OR4G7P pseudo 1353858 OR4G3P olfactory receptor, family 4, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9384599 26679 NG_003222,AC008993,L78442 GDB:10796698 OLC|OLC-7501|OR4G3|OR4G5P pseudo 1352059 OR4G4P olfactory receptor, family 4, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79504 NG_004148,AL627309 GDB:11506727 pseudo 1604781 OR4G6P olfactory receptor, family 4, subfamily G, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81438 NG_004268,AC140725,BK004536 GDB:11506731 OR11-302 pseudo 1348007 OR4H12P olfactory receptor, family 4, subfamily H, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 161271 NG_004089,AB065963,AL512310,BK004487 BAC06175,Q6IEX5 C14orf14|OR4H12|c14_5009 pseudo 1344172 OR4H6P olfactory receptor, family 4, subfamily H, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9500546 26322 NG_002307,AC134980,AF399449,U86229,U86230,U86231,U86232,U86233,U86265,U86266,U86268,U86269,U86273 GDB:10796714 OR15-69|OR15-71|OR15-80|OR15-81|OR15-82|OR4-114|OR4-115|OR4-119|OR4H10|OR4H10P|OR4H11|OR4H11P|OR4H1P|OR4H2|OR4H2P|OR4H3|OR4H3P|OR4H4|OR4H4P|OR4H5|OR4H5P|OR4H6|OR4H7|OR4H7P|OR4H9|OR4H9P|OR5-39|OR5-84 pseudo 1348052 OR4H8P olfactory receptor, family 4, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 26320 NG_002185,U86226 GDB:10796718 OR14-58|OR4H8 pseudo 1354130 OR4K1 olfactory receptor, family 4, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 79544 Q8NGD4,Q8NGD6 NM_001004063,AB065879,CH471078,AB065881,AC024399,AF399570,AL359218,BK004356 NP_001004063,EAW66494,Q8NGD4,Q8NGD6,BAC06097,BAC06099,AAK95055,DAA04754 Hs.554584 GDB:11506735 OR14-19 protein-coding 1345454 OR4K11P olfactory receptor, family 4, subfamily K, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12644552 81079 NG_004161,AF546490,AP001465 GDB:10795592 OR21-1 pseudo 1354408 OR4K12P olfactory receptor, family 4, subfamily K, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81078 NG_004160,AP001465 GDB:11508717 OR21-2 pseudo 1351116 OR4K13 olfactory receptor, family 4, subfamily K, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390433 NM_001004714,AB065559,AL359218,BK004449,CH471078,CS248338 NP_001004714,BAC05797,DAA04847,EAW66489,CAJ56862,Q8NH42 Hs.553573 GDB:11506739 OR14-27 protein-coding 1347325 OR4K14 olfactory receptor, family 4, subfamily K, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 122740 AF399572,AL359218,BK004521,BK004816,CH471078,CS248428,NM_001004712,AB065880 AAK95057,DAA04919,EAW66490,CAJ56734,Q8NGD5,NP_001004712,BAC06098 Hs.626814 GDB:11506741 OR14-18|OR14-22 protein-coding 1351884 OR4K15 olfactory receptor, family 4, subfamily K, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81127 NM_001005486,AB065560,AL359218,BK004468,CH471078 NP_001005486,BAC05798,DAA04866,EAW66492,Q6IEZ4,Q8NH41 Hs.554583 GDB:11506743 OR14-20|OR4K15Q protein-coding 1347330 OR4K16P olfactory receptor, family 4, subfamily K, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81126 NG_004172,AL359218 GDB:11506745 OR14-24 pseudo 1317906 OR4K17 olfactory receptor, family 4, subfamily K, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 390436 NM_001004715,AB065891,AL163152,BK004450,CH471078,CS248250 NP_001004715,BAC06107,DAA04848,EAW66488,CAJ56650,Q6IF12,Q8NGC6 Hs.553765 GDB:11506747 OR14-29 protein-coding 1351442 OR4K2 olfactory receptor, family 4, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390431 NM_001005501,AB065883,AC024399,AL391156,BK004357,CH471078,BC136941,BC136942 NP_001005501,BAC06101,DAA04755,EAW66496,AAI36942,AAI36943,Q8NGD2 Hs.551345 GDB:11506749 OR14-15 protein-coding 1350165 OR4K3 olfactory receptor, family 4, subfamily K, member 3 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12730696,12508121,12213199 283617 NG_003198,AB065884 Q96R72 OR14-10|OR4K3P olfactory receptor, family 4, subfamily K, member 3 gene/pseudogene|olfactory receptor, family 4, subfamily k, member 3 pseudogene pseudo 1344296 OR4K4P olfactory receptor, family 4, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79318 NG_002242,AC024399,AL391156 GDB:11504109 pseudo 1349816 OR4K5 olfactory receptor, family 4, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 79317 AL391156,BK004355,CH471078,NM_001005483,AB065882,AC024399 DAA04753,EAW66495,Q8NGD3,NP_001005483,BAC06100 Hs.554585 GDB:11506753 OR14-16 protein-coding 1348908 OR4K6P olfactory receptor, family 4, subfamily K, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79314 NG_002240,AC024399,AL391156 GDB:11506755 pseudo 1349530 OR4K7P olfactory receptor, family 4, subfamily K, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79306 NG_002235,AC013659,AP005058 GDB:11506757 OR4K10P pseudo 1604687 OR4K8P olfactory receptor, family 4, subfamily K, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 390836 NG_002222,AP005058,BK004699 GDB:11506759 OR18-1|OR4K9P pseudo 1349097 OR4L1 olfactory receptor, family 4, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 122742 NM_001004717,XM_939518,AB065558,AL359218,BK004467,CS248430 NP_001004717,XP_944611,BAC05796,DAA04865,CAJ56735,Q8NH43 Hs.553574 GDB:11506763,GDB:11506765 OR14-28|OR4L2P protein-coding 1354390 OR4M1 olfactory receptor, family 4, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 441670 NM_001005500,AB065886,AC024399,AL512310,BK004359,CH471078 NP_001005500,BAC06103,DAA04757,EAW66499,Q6IFA3,Q8NGD0 Hs.553829 GDB:11506767 OR14-7 protein-coding 1342583 OR4M2 olfactory receptor, family 4, subfamily M, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390538 NM_001004719,AB065903,AC134980,BK004480 NP_001004719,BAC06118,DAA04878,Q6IEY2,Q8NGB6 Hs.709063 GDB:11506769 OR15-3 protein-coding 1349619 OR4N1P olfactory receptor, family 4, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79322 NG_002243,AC024399,AL391156,BK004696,BK004715 GDB:11506771 OR14-12|OR14-6 pseudo 1351369 OR4N2 olfactory receptor, family 4, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390429 NM_001004723,AB065885,AC024399,AL391156,BK004360,BK004473,CH471078 NP_001004723,BAC06102,DAA04758,DAA04871,EAW66498,Q6IFA2,Q8NGD1,AAI40460,AAI48709 Hs.512490 GDB:11506773 OR14-13|OR14-8 protein-coding 1605498 OR4N3P olfactory receptor, family 4, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 390539 NG_004355,AB065905,AC010760,AC134980,BK004787 GDB:11506775 OR15-2 pseudo 1344920 OR4N4 olfactory receptor, family 4, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,14702039 283694 NM_001005241,AB065653,AB065904,AC134980,BK004406,BK004479,CH878499,BC136597,BC136598 NP_001005241,BAC05879,BAC06119,DAA04804,DAA04877,EAW50561,AAI36598,AAI36599,Q6IEY3,Q8N0Y3 Hs.525666 GDB:11506777 OR15-1|OR15-5 protein-coding 1322544 OR4N5 olfactory receptor, family 4, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390437 NM_001004724,AB065890,AL163152,BK004451,CH471078,CS248252 NP_001004724,BAC45262,DAA04849,EAW66487,CAJ56860,Q8IXE1 Hs.553766 GDB:11506779 protein-coding 1346655 OR4P1P olfactory receptor, family 4, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79308 NG_002236,AB065518,AC022289,AP006437 GDB:11506781 OR4P2P pseudo 1349189 OR4P4 olfactory receptor, family 4, subfamily P, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 12213199 81300 NM_001004124,AB065775,AF399448,AP006437,CH471076 NP_001004124,BAC05995,EAW73677,Q8NGL7 Hs.626750 GDB:11506785 OR4P3P protein-coding 1353763 OR4Q1P olfactory receptor, family 4, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81104 NG_004162,AC134980 GDB:11504097 pseudo 1347787 OR4Q2P olfactory receptor, family 4, subfamily Q, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390432 NG_004349,AL359218 GDB:11504099 pseudo 1344620 OR4Q3 olfactory receptor, family 4, subfamily Q, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,10706615 441669 NM_172194,AB065609,AF179768,AL512310,BK004488,CH471078 NP_751944,BAC05836,DAA04886,EAW66501,Q8NH05,AAI48514,AAI53112 Hs.553828 GDB:11508737 C14orf13|HSA6|OR14-3|OR4Q4|c14_5008 protein-coding 1348008 OR4R1P olfactory receptor, family 4, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79528 NG_002265,AC134982,AP002509 GDB:11506787 pseudo 1354330 OR4R2P olfactory receptor, family 4, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81299 NG_004231,AC126345 GDB:11506789 pseudo 1351177 OR4R3P olfactory receptor, family 4, subfamily R, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81298 NG_004230,AC110057,AP006587 GDB:11506791 pseudo 1348625 OR4S1 olfactory receptor, family 4, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 256148 NM_001004725,AB065908,AC023080,BK004348,CH471064 NP_001004725,BAC06123,DAA04746,EAW67869,Q8NGB4 Hs.553657 GDB:11506793 OR11-100 protein-coding 1345934 OR4S2 olfactory receptor, family 4, subfamily S, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12644552,12213199 219431 NM_001004059,AB065516,AC027239,AF399447,AF546546,AP006437,BK004390,CH471076,CS248346 NP_001004059,BAC05764,DAA04788,EAW73678,CAJ56693,Q8NH73,AAI41532 Hs.553621 GDB:11504015 OR11-137|OR4S2P|OST725 protein-coding 1351305 OR4T1P olfactory receptor, family 4, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390435 NG_004351,AL163152 GDB:11506795 pseudo 1353393 OR4U1P olfactory receptor, family 4, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390434 NG_004350,AL359218 GDB:11506797 OR14-23 pseudo 1347269 OR4V1P olfactory receptor, family 4, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79534 NG_002270,AC022289,AP006437 GDB:11506799 pseudo 1345097 OR4W1P olfactory receptor, family 4, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81077 NG_004159,Z69908 GDB:11506801 pseudo 1350139 OR4X1 olfactory receptor, family 4, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17964544,14983052 390113 NM_001004726,AB065544,AC026975,BK004388,CH471064,CS248256 NP_001004726,BAC05789,DAA04786,EAW67870,CAJ56652,Q8NH49 Hs.553742 GDB:11506803 OR11-104 protein-coding 1353376 OR4X2 olfactory receptor, family 4, subfamily X, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 119764 NM_001004727,AB065847,AC026975,AF399580,BK004389,CH471064,CS248258 NP_001004727,BAC06065,AAK95065,DAA04787,EAW67871,CAJ56653,Q8NGF9 Hs.553565 GDB:11506805 OR11-105 protein-coding 1353308 OR4X7P olfactory receptor, family 4, subfamily X, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403264 NG_005820,AP005639 pseudo 1353135 OR51A10P olfactory receptor, family 51, subfamily A, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81295 NG_004229,AC087380 GDB:11506807 OR51A11P|OR51A13 pseudo 1348493 OR51A1P olfactory receptor, family 51, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9272169 26537 NG_002199,AC129505,X81445 CAB89291,Q9NSC9 GDB:10795684 HPFH6OR pseudo 1348064 OR51A2 olfactory receptor, family 51, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 401667 NM_001004748,AB065797,AC018375,AC020597,CS248512 NP_001004748,BAC06016,CAJ56773,Q8NGJ7,AAI48563 Hs.553805 GDB:11506811 protein-coding 1348436 OR51A3P olfactory receptor, family 51, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79532 AC020597,NG_002268,AC018375 GDB:11506813 pseudo 1345327 OR51A4 olfactory receptor, family 51, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 401666 NM_001005329,AB065798,AC018375,AC020597,CS248508 NP_001005329,BAC06017,CAJ56771,Q8NGJ6 Hs.555481 GDB:11506815 protein-coding 1352360 OR51A5P olfactory receptor, family 51, subfamily A, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79525 NG_002263,AC018375,AC020597 GDB:11506817 pseudo 1353357 OR51A6P olfactory receptor, family 51, subfamily A, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390046 NG_004325,AC018375 GDB:11506819 pseudo 1352941 OR51A7 olfactory receptor, family 51, subfamily A, member 7 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 119687 NM_001004749,AB065525,AC018375,BK004284,CH471064,CS248528 NP_001004749,BAC05773,DAA04682,EAW68822,CAJ56781,Q6IFH8,Q8NH64 Hs.553560 GDB:11506821 OR11-27 protein-coding 1345489 OR51A8P olfactory receptor, family 51, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401662 NG_004387,AC103710 GDB:11504017 pseudo 1354033 OR51A9P olfactory receptor, family 51, subfamily A, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390039 NG_004320,AC090719 GDB:11506823 pseudo 1353482 OR51AB1P olfactory receptor, family 51, subfamily AB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403265 NG_004424,AC104389 pseudo 1351923 OR51B2 olfactory receptor, family 51, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 12477932,12213199,11121057,10220430 79345 NM_033180,AC104389,AF137396,AF149710,AF399503,CH471064,BC117461 NP_149420,AAD29425,AAK94988,EAW68800,AAI17462,Q17R53,Q9Y5P1 Hs.680163 GDB:11506825 HOR5'Beta3|OR51B1P protein-coding 1345725 OR51B3P olfactory receptor, family 51, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057 79342 NG_004142,AC104389 GDB:11506827 pseudo 1344392 OR51B4 olfactory receptor, family 51, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 11121057,15489334,12477932,10220430 79339 BC069094,BC100919,BC148186,BC153815,NM_033179,AC104389,AF137396,CH471064 EAW68801,AAH69094,AAI00920,AAI48187,AAI53816,Q9Y5P0,NP_149419,AAD29426 Hs.679499 GDB:11506829 HOR5'Beta1 protein-coding 1343909 OR51B5 olfactory receptor, family 51, subfamily B, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,14983052,10220430 282763 NM_001005567,AC104389,AF137396,BK004430,CH471064 NP_001005567,AAG41683,DAA04828,EAW68799,Q05CQ2,Q9H339 Hs.690458 GDB:11510991 HOR5'Beta5|OR11-37 protein-coding 1350324 OR51B6 olfactory receptor, family 51, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,10220430 390058 NM_001004750,AC104389,AF137396,CH471064 NP_001004750,AAG41682,EAW68798,Q9H340,AAI48510,AAI53110 Hs.553730 GDB:11510992 HOR5'Beta6 protein-coding 1349285 OR51B8P olfactory receptor, family 51, subfamily B, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403266 NG_004425,AC104389 pseudo 1343067 OR51C1P olfactory receptor, family 51, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401661 NG_004228,AB065521,AC090719 GDB:11504095 OR51C2P|OR51C3P|OST734 pseudo 1353212 OR51C4P olfactory receptor, family 51, subfamily C, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390041 NG_004322,AC103710 pseudo 1344581 OR51D1 olfactory receptor, family 51, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12732197 390038 NM_001004751,AB065855,AC090719,BK004370,CH471064,CS248544 NP_001004751,BAC06073,DAA04768,EAW68833,CAJ56789,Q8NGF3 Hs.553728 GDB:11506833 OR11-14|OR51D1Q protein-coding 1605574 OR51E1 olfactory receptor, family 51, subfamily E, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16206286,15489334,15313197,14983052,12732197,12477932,7566098,16491480 143503 NM_152430,AB065787,AC090719,BK004369,CH471064,AK293091,AL833127,AY698056,AY775731,BC022401 NP_689643,BAC06006,DAA04767,EAW68832,BAF85780,AAU07996,AAV54110,AAH22401,Q8TCB6 Hs.470038,Hs.669427 GDB:11506835 D-GPCR|GPR164|MGC24137|OR51E1P|OR52A3P|POGR|PSGR2 protein-coding 736827 OR51E2 olfactory receptor, family 51, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16491480,16231015,16149059,15499628,15489334,14983052,12477932,11707321,11593396,11118034,7566098 81285 NM_030774,AC090719,AC105936,AF311306,BK004368,CH471064,CS248536,AF369708,AY033942,BC020768 NP_110401,AAG40776,DAA04766,EAW68829,CAJ56785,AAK38728,AAK57550,AAH20768,Q9H255,ABM83628,ABM86872 Hs.501758,Hs.606330 GDB:11506837 OR51E3P|OR52A2|PSGR olfactory receptor 78 protein-coding 1353833 OR51F1 olfactory receptor, family 51, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12644552 256892 NM_001004752,AC103710,AF546560,BK004771 NP_001004752,A6NGY5 Hs.553659 OR11-21|OR51F1P protein-coding 1317227 OR51F2 olfactory receptor, family 51, subfamily F, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 119694 NM_001004753,AB065529,AC103710,BK004281,CH471064,CS248514,BC136877 NP_001004753,BAC05776,DAA04679,EAW68826,CAJ56774,AAI36878,Q6IFI1,Q8NH61 Hs.553562 GDB:11506841 OR11-23 protein-coding 1353578 OR51F3P olfactory receptor, family 51, subfamily F, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390043 AC103710,NG_004323 pseudo 1353480 OR51F4P olfactory receptor, family 51, subfamily F, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390044 NG_004324,AC103710 pseudo 1348115 OR51F5P olfactory receptor, family 51, subfamily F, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390040 NG_004321,AC103710 pseudo 1345426 OR51G1 olfactory receptor, family 51, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 79324 NM_001005237,AB065793,AC018375,AC020597,BK004286,CH471064 NP_001005237,BAC06012,DAA04684,EAW68820,Q6IFH6,Q8NGK1 Hs.554541 GDB:11506843 OR11-29|OR51G3P protein-coding 1351753 OR51G2 olfactory receptor, family 51, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12908129 81282 NM_001005238,AB065794,AC018375,AY284517,BK004285,CH471064,CS248520,BC136830,BC136831 Q6IFH7,Q8NGK0,NP_001005238,BAC06013,DAA04683,EAW68821,CAJ56777,AAI36831,AAI36832 Hs.542302 GDB:11506845 OR11-28 protein-coding 1353617 OR51H1P olfactory receptor, family 51, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401663 NG_004388,AB065527,AC011711 BAC05774,Q6IFI3,Q8NH63 OR51H1 pseudo 1353970 OR51H2P olfactory receptor, family 51, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401664 NG_004389,AC011711 GDB:11506849 pseudo 1349575 OR51I1 olfactory receptor, family 51, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,14983052,10220430 390063 NM_001005288,AC087380,AF137396,CS248488,BK004429,CH471064 NP_001005288,EAW68794,CAJ56761,Q9H343,AAG41679,DAA04827 Hs.553732 GDB:11506851 protein-coding 1346805 OR51I2 olfactory receptor, family 51, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,14983052,10220430 390064 NM_001004754,AC087380,AF137396,BK004381,CH471064,CS248486 NP_001004754,AAG41678,DAA04779,EAW68793,CAJ56760,Q9H344 Hs.553733 GDB:11506853 OR11-38 protein-coding 1349282 OR51J1 olfactory receptor, family 51, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79470 NG_002252,AC026083,AC104389 OR51J1P|OR51J2 pseudo 1344394 OR51K1P olfactory receptor, family 51, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81278 NG_004226,AC087380 GDB:11504051 pseudo 1343610 OR51L1 olfactory receptor, family 51, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 119682 NM_001004755,AB065799,AC018375,AC020597,BK004317,CH471064,CS248510 NP_001004755,BAC06018,DAA04715,EAW68816,CAJ56772,Q6IFE5,Q8NGJ5,AAI41572,AAI46585 Hs.553559 GDB:11506855 OR11-31 protein-coding 1349567 OR51M1 olfactory receptor, family 51, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,14983052,10220430 390059 NM_001004756,AC026083,AC104389,AF137396,BK004382,CH471064,CS248490,BC136912,BC136913 NP_001004756,AAG41681,DAA04780,EAW68797,CAJ56762,AAI36913,AAI36914,Q9H341 Hs.553731 GDB:11506857 HOR5'Beta7|OR11-40 protein-coding 1348713 OR51N1P olfactory receptor, family 51, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 119696 NG_004281,AC103710 GDB:11506859 pseudo 1351447 OR51P1P olfactory receptor, family 51, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79300 NG_002232,AC020597,AC113331 GDB:11504055 OR51P2P pseudo 1343317 OR51Q1 olfactory receptor, family 51, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16554811 390061 NM_001004757,AB065531,AC026083,AC087380,CH471064,CS248492,BC136999 NP_001004757,BAC05778,EAW68795,CAJ56763,AAI37000,Q8NH59 Hs.528592 GDB:11506861 protein-coding 1350679 OR51R1P olfactory receptor, family 51, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390034 NG_004318,AC009758 GDB:11506863 pseudo 1347151 OR51S1 olfactory receptor, family 51, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 119692 NM_001004758,AB065796,AC011711,AC103710,BK004280,CH471064,CS248554 NP_001004758,BAC06015,DAA04678,EAW68825,CAJ56794,Q6IFI2,Q8NGJ8 Hs.553561 GDB:11506865 OR11-24 protein-coding 1352520 OR51T1 olfactory receptor, family 51, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 401665 NM_001004759,AB065795,AC011711,BK004283,CH471064 NP_001004759,BAC06014,DAA04681,EAW68823,Q6IFH9,Q8NGJ9,AAI56308 Hs.553804 GDB:11506867 OR11-26 protein-coding 1343262 OR51V1 olfactory receptor, family 51, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,14983052 283111 NM_001004760,AC104389,AF289203,BK004432,CH471064 NP_001004760,AAG42364,DAA04830,EAW68807,Q9H2C8,AAI56855 Hs.553670 GDB:11510995 OR11-36|OR51A12 protein-coding 1342762 OR52A1 olfactory receptor, family 52, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 10512676,15489334,14983052,12477932,11121057 23538 NM_012375,AC129505,AF154673,AF289204,BK004431,CH471064,BC111691,BC111722 NP_036507,AAD51279,AAG42367,DAA04829,EAW68808,AAI11723,Q9UKL2,AAI40284 Hs.553520 GDB:10795319 HPFH1OR protein-coding 1347125 OR52A4 olfactory receptor, family 52, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390053 NM_001005222,AC113331 NP_001005222,A6NMU1 Hs.553729 GDB:11510996 protein-coding 1344467 OR52A5 olfactory receptor, family 52, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,14983052 390054 NM_001005160,AC129505,AF289204,BK004433,CH471064,AY726590 NP_001005160,AAG42368,DAA04831,EAW68809,Q9H2C5,AAI41495 Hs.546593 GDB:11510997 OR11-33 protein-coding 1348903 OR52B1P olfactory receptor, family 52, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81274 NG_004225,AC022762 GDB:11504057 pseudo 1347309 OR52B2 olfactory receptor, family 52, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 255725 NM_001004052,AB065763,AB065939,AC022762,AF399505,BK004324,CH471064,CS248472,BC136732,BC136733 NP_001004052,BAC05983,BAC06154,AAK94990,DAA04722,EAW68744,CAJ56756,AAI36733,AAI36734,Q8NG91,Q8NGM7,Q96RD2 Hs.690457 GDB:11506869 OR11-70 protein-coding 1350318 OR52B3P olfactory receptor, family 52, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 387747 NG_004311,AC009758 GDB:11506871 pseudo 1316140 OR52B4 olfactory receptor, family 52, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 143496 NM_001005161,AB065792,AC009758,BK004256,CH471064 NP_001005161,BAC06011,DAA04654,EAW68847,Q8NGK2 Hs.447463 GDB:11506873 OR11-3 protein-coding 1350568 OR52B5P olfactory receptor, family 52, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81270 NG_004224,AC015691 GDB:11506875 pseudo 1351225 OR52B6 olfactory receptor, family 52, subfamily B, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 340980 NM_001005162,AB065858,AC015691,BK004275 NP_001005162,BAC06076,DAA04673,Q6IFI7,Q8NGF0 Hs.553704 GDB:11506877 OR11-47 protein-coding 1344092 OR52D1 olfactory receptor, family 52, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,10220430,11121057 390066 NM_001005163,AC087380,AF137396,BK004276,CH471064,CS248482 NP_001005163,AAG41676,DAA04674,EAW68791,CAJ56759,Q9H346 Hs.553734 GDB:11506879 OR11-43 protein-coding 1346521 OR52E1 olfactory receptor, family 52, subfamily E, member 1 (gene/pseudogene) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79296 NG_003197,AB065801,AC020597,AC113331 BAC06020,Q8NGJ3 OR52E1P olfactory receptor, family 52, subfamily e, member 1 gene/pseudogene pseudo 1347048 OR52E2 olfactory receptor, family 52, subfamily E, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 119678 NM_001005164,AB065800,AC113331,CH471064 NP_001005164,BAC06019,EAW68812,Q8NGJ4 Hs.553557 GDB:11506883 protein-coding 1346155 OR52E3P olfactory receptor, family 52, subfamily E, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79533 NG_002269,AC020597,AC113331 GDB:11506885 pseudo 1353810 OR52E4 olfactory receptor, family 52, subfamily E, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390081 NM_001005165,AB065817,AC131574,BK004302,CH471064,CS248466 NP_001005165,BAC06036,DAA04700,EAW68756,CAJ56753,Q6IFG0,Q8NGH9 Hs.553739 GDB:11506887 OR11-55 protein-coding 1344315 OR52E5 olfactory receptor, family 52, subfamily E, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390082 NG_005911,AB065536,AC025016,AC131574,BK004566 BAC05782,Q8NH55 GDB:11506889 OR11-56 pseudo 1343147 OR52E6 olfactory receptor, family 52, subfamily E, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390078 NM_001005167,AB065815,AC131574,AF399504,BK004304,CH471064,CS248464 NP_001005167,BAC06034,AAK94989,DAA04702,EAW68758,CAJ56752,Q6IFF8,Q96RD3 Hs.534693 GDB:11506891 OR11-58 protein-coding 1352285 OR52E7P olfactory receptor, family 52, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81264 NG_004223,AC131574 GDB:11504065 pseudo 1349859 OR52E8 olfactory receptor, family 52, subfamily E, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16554811,14983052 390079 NM_001005168,AC131574,BK004301,CH471064,CS248468 NP_001005168,DAA04699,EAW68757,CAJ56754,Q6IFG1 Hs.553738 GDB:11506893 OR11-54 protein-coding 1344719 OR52H1 olfactory receptor, family 52, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 390067 NM_001005289,AB065802,AC087380,BK004383,BK004682,CH471064 NP_001005289,BAC06021,DAA04781,EAW68787,Q6IF79,Q8NGJ2 Hs.554540 GDB:11506895 OR11-41|OR11-45 protein-coding 1346583 OR52H2P olfactory receptor, family 52, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81261 NG_004222,AC087380 GDB:11504067 pseudo 1349331 OR52I1 olfactory receptor, family 52, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12732197 390037 NM_001005169,AB065788,AC090719,BK004371,CH471064,CS248542 NP_001005169,BAC06007,DAA04769,EAW68836,CAJ56788,Q8NGK6,AAI48541,AAI53132 Hs.553727 GDB:11506897 OR11-13 protein-coding 1352778 OR52I2 olfactory receptor, family 52, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12732197 143502 NM_001005170,AB065522,AC090719,BK004264,CH471064,BC136921 NP_001005170,BAC05770,DAA04662,EAW68837,AAI36922,Q6IFJ8,Q8NH67 Hs.553607 GDB:11506899 OR11-12 protein-coding 1351984 OR52J1P olfactory receptor, family 52, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79302 NG_002234,AC113331 GDB:11506901 pseudo 1342965 OR52J2P olfactory receptor, family 52, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79529 NG_002266,AC020597,AC113331 GDB:11506903 OR52J4P pseudo 1353752 OR52J3 olfactory receptor, family 52, subfamily J, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 119679 NM_001001916,AB065530,AC113331,BK004318,CH471064,CS248506 NP_001001916,BAC05777,DAA04716,EAW68813,CAJ56770,Q6IFE4,Q8NH60 Hs.553558 GDB:11506905 OR11-32 protein-coding 1345673 OR52K1 olfactory receptor, family 52, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390036 NM_001005171,AB065790,AC010930,BK004257,CH471064,CS248452 NP_001005171,BAC06009,DAA04655,EAW68842,CAJ56746,Q6IFK5,Q8NGK4 Hs.553726 GDB:11506907 OR11-8 protein-coding 1349972 OR52K2 olfactory receptor, family 52, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 119774 NM_001005172,AB065791,AC010930,BK004258,CH471064,CS248450 NP_001005172,BAC06010,DAA04656,EAW68843,CAJ56745,Q6IFK4,Q8NGK3 Hs.553568 GDB:11506909 OR11-7 protein-coding 1350564 OR52K3P olfactory receptor, family 52, subfamily K, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 390035 NG_004319,AC010930,AF143328 AAD33911,Q9Y347 Hs.162035 GDB:11504019 pseudo 1352155 OR52L1 olfactory receptor, family 52, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12908129 338751 NM_001005173,AB065819,AC009642,AC111177,AY284549,BK004253,CH471064,CS248446,BC137343 NP_001005173,BAC06038,DAA04651,EAW68750,CAJ56743,AAI37344,Q6IFK9,Q8NGH7 Hs.553703 GDB:11506911 OR11-50 protein-coding 1353890 OR52L2P olfactory receptor, family 52, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79274 NG_003195,AC009642,AC111177,BK004254 DAA04652,Q6IFK8,Q8NGH6 OR52L2 pseudo 1349652 OR52M1 olfactory receptor, family 52, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12732197,12644552 119772 NM_001004137,AB065789,AC025249,AC090719,AF546574,BK004372,CH471064 NP_001004137,BAC06008,DAA04770,EAW68839,Q8NGK5,AAI46425 Hs.553567 GDB:11504021 OR11-11|OR52M1P|OR52M3P protein-coding 1345173 OR52M2P olfactory receptor, family 52, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 338637 NG_004305,AC010930 GDB:11506915,GDB:11510999 OR52M4 pseudo 1348757 OR52N1 olfactory receptor, family 52, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 79473 NM_001001913,AB065538,AC131574,BK004306,CH471064,CS248460 NP_001001913,BAC05784,DAA04704,EAW68761,CAJ56750,Q6IFF6,Q8NH53 Hs.690209 GDB:11506919 OR11-61 protein-coding 1346756 OR52N2 olfactory receptor, family 52, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390077 NM_001005174,AB065816,AC131574,BK004303,CH471064,CS248456 NP_001005174,BAC06035,DAA04701,EAW68759,CAJ56748,Q6IFF9,Q8NGI0 Hs.553737 GDB:11506921 OR11-57 protein-coding 1347746 OR52N3P olfactory receptor, family 52, subfamily N, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81251 NG_004221,AC131574,BK004567 GDB:11506923 OR11-60 pseudo 1352153 OR52N4 olfactory receptor, family 52, subfamily N, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390072 NM_001005175,AB065813,AC131574,BK004385,CH471064,CS248494,BC137035,BC137036 NP_001005175,BAC06032,DAA04783,EAW68764,CAJ56764,AAI37036,AAI37037,Q8NGI2 Hs.553735 GDB:11506925 OR11-64 protein-coding 1347388 OR52N5 olfactory receptor, family 52, subfamily N, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390075 NM_001001922,AB065535,AC131574,BK004300,CH471064,BC136981 NP_001001922,BAC05781,DAA04698,EAW68762,AAI36982,Q6IFG2,Q8NH56 Hs.690207 GDB:11506927 OR11-62|OR52N5Q protein-coding 1346171 OR52P1P olfactory receptor, family 52, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81248 NG_004220,AB065534,AC109341,BK004746 OR11-66|OR52P1 pseudo 1353085 OR52P2P olfactory receptor, family 52, subfamily P, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 119775 NG_004282,AC009758 GDB:11504023 pseudo 1353916 OR52Q1P olfactory receptor, family 52, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81246 NG_004219,AC025016 GDB:11506931 pseudo 1354346 OR52R1 olfactory receptor, family 52, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 119695 NM_001005177,AB065857,AC103710,BK004282,CH471064 NP_001005177,BAC06075,DAA04680,EAW68827,Q6IFI0,Q8NGF1 Hs.553563 GDB:11506933 OR11-22 protein-coding 1353465 OR52S1P olfactory receptor, family 52, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79521 NG_002262,AC020597,AC113331 GDB:11504025 pseudo 1348721 OR52T1P olfactory receptor, family 52, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81244 NG_004218,AC015691 GDB:11506935 pseudo 1345158 OR52U1P olfactory receptor, family 52, subfamily U, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81243 NG_004217,AC109341 GDB:11504027 pseudo 1343178 OR52V1P olfactory receptor, family 52, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81242 NG_004216,AC087380 GDB:11506937 pseudo 1353462 OR52W1 olfactory receptor, family 52, subfamily W, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16554811,14983052 120787 NM_001005178,AB065511,AC022762,BK004399,CH471064,CS248474,BC137225 NP_001005178,BAC05759,DAA04797,EAW68742,CAJ56865,AAI37226,Q6IF63,Q8NH78 Hs.553570 OR11-71|OR52W1P protein-coding 1345989 OR52X1P olfactory receptor, family 52, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79272 NG_002220,AC009642,AC111177 GDB:11506941 pseudo 1346460 OR52Y1P olfactory receptor, family 52, subfamily Y, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81240 NG_004215,AC103710 GDB:11506943 OR52Y2P pseudo 1351783 OR52Z1P olfactory receptor, family 52, subfamily Z, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11121057,17973576,16554811 283110 NG_004304,AC129505 P0C646,Q9H2C7 GDB:11511001 OR52Z1 pseudo 1347049 OR55B1P olfactory receptor, family 55, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390030 NG_004317,AC015689 GDB:11506945 OR55B2P|OR55C1P pseudo 1349253 OR56A1 olfactory receptor, family 56, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 120796 NM_001001917,AB065821,AC111177,BK004252,CH471064,CS248444,BC136904,BC136911 NP_001001917,BAC06040,DAA04650,EAW68748,CAJ56742,AAI36905,AAI36912,Q6IFL0,Q8NGH5 Hs.553543 GDB:11506949 OR11-75 protein-coding 1351120 OR56A3 olfactory receptor, family 56, subfamily A, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390083 NM_001003443,AB065537,AC009642,AC025016,BK004305,CS248462 NP_001003443,BAC05783,DAA04703,CAJ56751,Q6IFF7,Q8NH54 Hs.553741 OR56A2P|OR56A3P|OR56A6 protein-coding 1347825 OR56A4 olfactory receptor, family 56, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 120793 NM_001005179,AB065818,AC009642,AC111177,BK004255,CH471064 NP_001005179,BAC06037,DAA04653,EAW68749,Q6IFK7,Q8NGH8 Hs.553571 GDB:11506955 OR11-49 protein-coding 1344603 OR56A5 olfactory receptor, family 56, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79270 NG_002219,AC009642 OR56A5P pseudo 1350527 OR56A7P olfactory receptor, family 56, subfamily A, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81236 NG_004214,AC111177 GDB:11506961 pseudo 1347435 OR56B1 olfactory receptor, family 56, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17567994,14983052 387748 NM_001005180,AB065812,AC131574,BK004386,CH471064,CS248498,AK122668,BC137184,BC137185 NP_001005180,BAC06031,DAA04784,EAW68765,CAJ56766,AAI37185,AAI37186,Q8NGI3 Hs.689609 OR11-65|OR56B1P protein-coding 1348024 OR56B2P olfactory receptor, family 56, subfamily B, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 390073 NG_004326,AB065814,AC131574,BK004384 BAC06033,Q6IF78,Q8NGI1 OR11-63|OR56B2 pseudo 1353339 OR56B3P olfactory receptor, family 56, subfamily B, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401675 NG_004390,AC111177 GDB:11504029 pseudo 1348653 OR56B4 olfactory receptor, family 56, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 196335 NM_001005181,AB065513,AC111177,BK004325,CH471064,CS248476,BC136879,BC136880 NP_001005181,BAC05761,DAA04723,EAW68746,CAJ56757,AAI36880,AAI36881,Q6IFD7,Q8NH76 Hs.632154 GDB:11506967 OR11-67 protein-coding 1354277 OR5A1 olfactory receptor, family 5, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219982 NM_001004728,AB065804,AC019093,AC069371,AF399528,AP003778,BK004310,CH471076,CS248278 NP_001004728,BAC06023,AAK95013,DAA04708,EAW73844,CAJ56662,Q6IFF2,Q8NGJ0 Hs.553649 GDB:10795546 OR11-249|OR5A1P|OST181 protein-coding 1349600 OR5A2 olfactory receptor, family 5, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219981 BK004308,CH471076,CS248276,NM_001001954,AB065805,AF399529,AP003778 DAA04706,EAW73843,CAJ56661,Q6IFF4,Q8NGI9,NP_001001954,BAC06024,AAK95014 Hs.553648 GDB:11506969 protein-coding 1342645 OR5AC1P olfactory receptor, family 5, subfamily AC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81431 NG_004267,AC024892 GDB:11506971 pseudo 1349503 OR5AC2 olfactory receptor, family 5, subfamily AC, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 10706615,16641997 81050 NM_054106,AC133439,AF179759,CH471052 NP_473447,AAF40348,EAW79870,Q9NZP5,AAI48626,AAI53190 Hs.554715 GDB:11508742 HSA1 protein-coding 1343346 OR5AC4P olfactory receptor, family 5, subfamily AC, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403271 NG_004426,AC117460 pseudo 1344757 OR5AH1P olfactory receptor, family 5, subfamily AH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79336 NG_002357,AC006115 GDB:11506973 pseudo 1344070 OR5AK1P olfactory receptor, family 5, subfamily AK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81230 NG_004213,AP002826 GDB:11506975 OR5AK5P pseudo 1348283 OR5AK2 olfactory receptor, family 5, subfamily AK, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390181 NM_001005323,AB065496,AP002826,CH471076,BC137198 NP_001005323,BAC05747,EAW73728,AAI37199,Q8NH90 Hs.554520 GDB:11506977 protein-coding 1346192 OR5AK3P olfactory receptor, family 5, subfamily AK, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81228 NG_004212,AP002826 OR5AK3 pseudo 1350661 OR5AK4P olfactory receptor, family 5, subfamily AK, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12908129,11705801 219525 NG_002337,AF309701,AY284037,AF309700 Hs.554519 GDB:11506981 PJCG3 pseudo 1342502 OR5AL1P olfactory receptor, family 5, subfamily AL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79482 NG_004144,AP002512 GDB:11506983 pseudo 1343300 OR5AL2P olfactory receptor, family 5, subfamily AL, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79476 NG_004143,AP002512 GDB:11506985 pseudo 1354384 OR5AM1P olfactory receptor, family 5, subfamily AM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81226 NG_004211,AP002517 GDB:11506987 pseudo 1349496 OR5AN1 olfactory receptor, family 5, subfamily AN, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390195 CH471076,CS248368,NM_001004729,AB065806,AP002780,BK004508 EAW73842,CAJ56704,Q8NGI8,NP_001004729,BAC06025,DAA04906 Hs.553755 GDB:11506989 OR11-244 protein-coding 1343737 OR5AN2P olfactory receptor, family 5, subfamily AN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81224 NG_004210,AP002358 GDB:11506991 pseudo 1348056 OR5AO1P olfactory receptor, family 5, subfamily AO, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403272 NG_004427,AP001521 pseudo 1347292 OR5AP1P olfactory receptor, family 5, subfamily AP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81223 NG_004209,AP002517 GDB:11506993 pseudo 1350041 OR5AP2 olfactory receptor, family 5, subfamily AP, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 338675 NM_001002925,AB065854,AP002517,CH471076,BC136989 NP_001002925,BAC06072,EAW73720,AAI36990,Q8NGF4 Hs.449692 GDB:11506995 OR9J1 protein-coding 1354171 OR5AQ1P olfactory receptor, family 5, subfamily AQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81221 NG_004208,AB065451,AB065593,AC068339,BK004580,BK004708 GDB:11506997 OR11-165 pseudo 1346704 OR5AR1 olfactory receptor, family 5, subfamily AR, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219493 NM_001004730,AB065740,AP004245,BK004401,CH471076,CS248302 NP_001004730,BAC05961,DAA04799,EAW73721,CAJ56674,Q8NGP9 Hs.553633 GDB:11506999 OR11-209 protein-coding 1343270 OR5AS1 olfactory receptor, family 5, subfamily AS, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219447 NM_001001921,AB065452,AB065543,AC068339,BK004344,CH471076,CS248354 NP_001001921,BAC05714,BAC05788,DAA04742,EAW73695,CAJ56697,Q8N127 Hs.553625 GDB:11507001 OR11-168 protein-coding 1343321 OR5AU1 olfactory receptor, family 5, subfamily AU, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390445 NM_001004731,AB065898,AF399635,AL157687,BK004520,CH471078,BC137304,BC137305 NP_001004731,BAC06114,AAK95120,DAA04918,EAW66402,AAI37305,AAI37306,Q6IEU2,Q8NGC0 Hs.553768 GDB:11507005 OR14-38 protein-coding 1344437 OR5AW1P olfactory receptor, family 5, subfamily AW, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81076 NG_004158,AL135784 GDB:11507009 pseudo 1604183 OR5AZ1P olfactory receptor, family 5, subfamily AZ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 283193 NG_004207,AB065549,AF399500,AP003484,BK004802 GDB:11507015 pseudo 1354315 OR5B10P olfactory receptor, family 5, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 390186 NG_002306,U86223 GDB:10796722 OR13-34|OR13-64|OR13-67|OR5B10|OR5B11|OR5B11P|OR5B18P|OR5B4P pseudo 1354162 OR5B12 olfactory receptor, family 5, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390191 NM_001004733,AB065851,AF399637,AP002345,BK004507,CH471076,CS248568,BC136947 NP_001004733,BAC06069,AAK95122,DAA04905,EAW73806,CAJ56800,AAI36948,Q96R08 Hs.553754 OR11-241|OR5B12P|OR5B16|OST743 protein-coding 1352210 OR5B15P olfactory receptor, family 5, subfamily B, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81215 NG_004206,AP002345 GDB:11507021 pseudo 1347466 OR5B17 olfactory receptor, family 5, subfamily B, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219965 BK004491,CH471076,CS248200,NM_001005489,AB065849,AP000435 DAA04889,EAW73803,CAJ56626,Q8NGF7,NP_001005489,BAC06067 Hs.554517 GDB:11507025 OR11-237|OR5B20P protein-coding 1348349 OR5B19P olfactory receptor, family 5, subfamily B, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81211 NG_004205,AP000435 GDB:11507029 pseudo 1603460 OR5B1P olfactory receptor, family 5, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9500546 401692 NG_002305,AF399501 GDB:10796726 OR3-144|OR5B14P|OR5B5|OR5B5P|OR5B6|OR5B6P|OR5B7|OR5B7P|OR5B8|OR5B8P|OR5B9|OR5B9P|OR6-55|OR6-57|OR8-122|OR8-123|OR912-92 pseudo 1350221 OR5B2 olfactory receptor, family 5, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390190 NM_001005566,AB065852,AF399636,AP002345,BK004505,CH471076,CS248570,BC136922 NP_001005566,BAC06070,AAK95121,DAA04903,EAW73805,CAJ56801,AAI36923,Q96R09 Hs.553753 GDB:10795547 OR11-240|OST073 protein-coding 1345076 OR5B21 olfactory receptor, family 5, subfamily B, member 21 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 219968 NM_001005218,AP003557 NP_001005218,A6NL26 Hs.553647 GDB:11511006 protein-coding 1354314 OR5B3 olfactory receptor, family 5, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 441608 NM_001005469,AB065545,AP002345,BK004506,CH471076,CS248572 NP_001005469,BAC05790,DAA04904,EAW73804,CAJ56802,Q8NH48 Hs.553826 GDB:10795548 OR11-239|OR5B13|OST129 protein-coding 1343130 OR5BA1P olfactory receptor, family 5, subfamily BA, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81210 NG_004204,AP003484 GDB:11507031 pseudo 1344363 OR5BB1P olfactory receptor, family 5, subfamily BB, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81209 NG_004203,AP003778 GDB:11507033 pseudo 1345168 OR5BC1P olfactory receptor, family 5, subfamily BC, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81208 NG_004202,AP000435 GDB:11507035 pseudo 1346829 OR5BD1P olfactory receptor, family 5, subfamily BD, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79483 NG_002253,AC040925,AP003484 GDB:11507037 pseudo 1349508 OR5BE1P olfactory receptor, family 5, subfamily BE, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81207 NG_004201,AC068339 GDB:11507039 pseudo 1353797 OR5BG1P olfactory receptor, family 5, subfamily BG, member 1 pseudogene GDB:11507043 1343683 OR5BH1P olfactory receptor, family 5, subfamily BH, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10737800 81075 NG_004157,AL135784 GDB:11507045 OR5BH2P pseudo 1350178 OR5BJ1P olfactory receptor, family 5, subfamily BJ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81047 NG_004156,AC090115 GDB:11508745 OST740 pseudo 1347786 OR5BK1P olfactory receptor, family 5, subfamily BK, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401718 NG_004391,AC024257 GDB:11507047 pseudo 1349347 OR5BL1P olfactory receptor, family 5, subfamily BL, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81205 NG_004200,AP004247 GDB:11507049 pseudo 1348106 OR5BM1P olfactory receptor, family 5, subfamily BM, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79491 NG_004145,AC026100 GDB:11507051 pseudo 1343020 OR5BN1P olfactory receptor, family 5, subfamily BN, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81204 NG_004199,AC068339,BK004605 GDB:11507053 OR11-161 pseudo 1604131 OR5BN2P olfactory receptor, family 5, subfamily BN, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504181 NG_004864,AC068339 pseudo 1605328 OR5BP1P olfactory receptor, family 5, subfamily BP, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81203 NG_004198,AP001521 GDB:11507055 pseudo 1348137 OR5BQ1P olfactory receptor, family 5, subfamily BQ, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81202 NG_004197,AP002826 GDB:11507057 OR5BQ2P pseudo 1348955 OR5BR1P olfactory receptor, family 5, subfamily BR, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81201 NG_004196,AP002358 GDB:11507059 pseudo 1344145 OR5BS1P olfactory receptor, family 5, subfamily BS, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390313 NG_004343,AC089987 OR5BS1 pseudo 1344310 OR5BT1P olfactory receptor, family 5, subfamily BT, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282790 NG_004300,AC090115 GDB:11511010 pseudo 1604145 OR5C1 olfactory receptor, family 5, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 392391 NM_001001923,AB065725,AC006313,AF399514,BK004233,CH471090,BC136701 NP_001001923,BAC05946,AAK94999,DAA04631,EAW87544,AAI36702,Q6IFM9,Q8NGR4 Hs.534761 GDB:10795549 OR5C2P|OR9-31|OR9-F protein-coding 1606314 OR5D11P olfactory receptor, family 5, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9500546 26351 AF399363,NG_003230,U86285 GDB:10796739 OR5D11|OR5D1P|OR8-125|OR8-127 pseudo 1348417 OR5D13 olfactory receptor, family 5, subfamily D, member 13 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390142 NM_001001967,AB065778,AC036111,BK004333,BK004394,CH471076,CS248326 NP_001001967,BAC05998,DAA04731,DAA04792,EAW73682,CAJ56686,Q8NGL4 Hs.553743 GDB:11507063 protein-coding 1350020 OR5D14 olfactory receptor, family 5, subfamily D, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219436 BK004393,CH471076,CS248328,NM_001004735,AB065779,AC036111,AF399523,BK004328 DAA04726,DAA04791,EAW73683,CAJ56687,Q6IFD4,Q8NGL3,AAI48381,AAI53006,NP_001004735,BAC05999,AAK95008 Hs.553622 GDB:11507065 OR11-141|OR11-150 protein-coding 1347450 OR5D15P olfactory receptor, family 5, subfamily D, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81198 NG_004195,AC036111 GDB:11504101 pseudo 1352687 OR5D16 olfactory receptor, family 5, subfamily D, member 16 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390144 NM_001005496,AB065783,AC036111,AF399524,BK004397,CH471076,CS248324 NP_001005496,BAC06003,AAK95009,DAA04795,EAW73687,CAJ56685,Q8NGK9,AAI48516,AAI53113 Hs.554527 GDB:11507067 OR11-154 protein-coding 1350240 OR5D17P olfactory receptor, family 5, subfamily D, member 17 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81196 NG_004194,AC036111 GDB:11507069 pseudo 1345975 OR5D18 olfactory receptor, family 5, subfamily D, member 18 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219438 NM_001001952,AB065781,AC036111,AF399525,BK004329,BK004395,CH471076,CS248322,BC136925,BC136927 NP_001001952,BAC06001,AAK95010,DAA04727,DAA04793,EAW73685,CAJ56684,AAI36926,AAI36928,Q6IFD3,Q8NGL1 Hs.553624 GDB:11507071 OR11-143 protein-coding 1350614 OR5D2P olfactory receptor, family 5, subfamily D, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077,9500546 8595 NG_002277,AF065858,AF399362,AP006437,U86246,U86247,U86248,U86249,U86250,U86287,U86288,U86296,U86297,U86298,U86300 GDB:9955760 OR11-7a|OR18-17|OR18-42|OR18-43|OR18-44|OR18-79|OR5D10P|OR5D11|OR5D11P|OR5D12|OR5D12P|OR5D1P|OR5D5P|OR5D6P|OR5D7P|OR5D8P|OR5D9P|OR8-125|OR8-127|OR912-47|OR912-91|OR912-94|R5D9P pseudo 1345537 OR5D3P olfactory receptor, family 5, subfamily D, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199,9787077 8594 NG_002172,AF065860,AF065861,AF399364,AP006437,BK004331,CH471076 AAC70015,AAC70016,DAA04729,EAW73680,Q6IFD1,Q6KH09 GDB:9955757 OR11-8b|OR11-8c|OR5D3|OR5D4 pseudo 1354065 OR5E1P olfactory receptor, family 5, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349,1580863 9119360 633349 26343 NG_004124,AB065769,AC044810,CH471064,X89671 BAC05989,EAW68644,CAA61818,Q15616,Q8NGM3 Hs.382973 GDB:11507073 HSTPCR24|OR5E1|TPCR24 pseudo 1351053 OR5F1 olfactory receptor, family 5, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9787077,14983052,12477932,12213199 338674 NM_003697,AC068339,AF065863,AF399527,BK004343,CH471076,CS248356,BC101239,BC101241,BC101242 NP_003688,AAC70017,AAK95012,DAA04741,EAW73694,CAJ56698,AAI01240,AAI01242,AAI01243,A0AUJ7,O95221,Q495D1 Hs.553702 GDB:9955748 OR11-10 protein-coding 1353182 OR5F2P olfactory receptor, family 5, subfamily F, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81194 NG_004193,AC068339 GDB:11504175 pseudo 1348600 OR5G1P olfactory receptor, family 5, subfamily G, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9787077,9700185 8591 NG_002299,AF045576,AF065871,AP001803 GDB:9955743 OR11-104|OR5G2P|OR93|OR93HUM pseudo 1346393 OR5G3P olfactory receptor, family 5, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81193 NG_002406,AP001803 GDB:11507075 OR5G3|OR5G6P pseudo 1351453 OR5G4P olfactory receptor, family 5, subfamily G, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81192 NG_004192,AP001803 GDB:11507077 pseudo 1345936 OR5G5P olfactory receptor, family 5, subfamily G, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81191 NG_004191,AP001803 GDB:11507079 pseudo 1347725 OR5H1 olfactory receptor, family 5, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859 26341 NM_001005338,AC117460,CH471052,X64988 NP_001005338,EAW79869,A6NKK0,AAI48612 Hs.537383 GDB:10796754 HSHTPCRX14|HTPCRX14 protein-coding 1347228 OR5H14 olfactory receptor, family 5, subfamily H, member 14 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 403273 NM_001005514,AB065459,AC117460,CH471052 NP_001005514,BAC05719,EAW79868,A6NHG9,Q8NHB6 Hs.554714 protein-coding 1344642 OR5H15 olfactory receptor, family 5, subfamily H, member 15 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403274 NM_001005515,AC117460,CH471052 NP_001005515,EAW79867,A6NDH6 Hs.554713 protein-coding 1349856 OR5H2 olfactory receptor, family 5, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79310 NM_001005482,AB065666,AC117473,BK004375,CH471052,CS248266 NP_001005482,BAC05892,DAA04773,EAW79865,CAJ56657,Q6IF87,Q8NGV7 Hs.554711 GDB:11507081 OR3-10 protein-coding 1353991 OR5H3P olfactory receptor, family 5, subfamily H, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79309 NG_002237,AC117460,AC117473,BK004591 GDB:11507083 pseudo 1344827 OR5H4P olfactory receptor, family 5, subfamily H, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79299 NG_002231,AC117460,AC117473,BK004592 GDB:11507085 OR3-5 pseudo 1342485 OR5H5P olfactory receptor, family 5, subfamily H, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79297 NG_002230,AC117460,AC117473,BK004698 GDB:11507087 OR3-3 pseudo 1347959 OR5H6 olfactory receptor, family 5, subfamily H, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79295 NM_001005479,AB065667,AC117460,BK004374,CH471052,CS248268,BC137523,BC137524 NP_001005479,BAC05893,DAA04772,EAW79866,CAJ56658,AAI37524,AAI37525,Q6IF88,Q8NGV6 Hs.554712 GDB:11507089 OR3-11 protein-coding 1353211 OR5H7P olfactory receptor, family 5, subfamily H, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 79291 NG_002228,AB065459,AC117460,AC117473,BK004589 GDB:11507091 OR3-6 pseudo 1347056 OR5H8P olfactory receptor, family 5, subfamily H, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12908129 79289 NG_002227,AB065460,AC117473,AY284071,BK004590 GDB:11507093 OR3-7 pseudo 1351255 OR5I1 olfactory receptor, family 5, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9787077,15489334,14983052,12477932,9017400 10798 U56420,BC069093,NM_006637,AP003033,BK004518,CH471076 AAB01214,AAH69093,Q13606,NP_006628,DAA04916,EAW73691 Hs.533706 GDB:9958877 HSOlf1|OLF1 protein-coding 1603461 OR5J1P olfactory receptor, family 5, subfamily J, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199,10706615,1370859 401687 NG_004086,AB065655,AB065842,AC068339,AF179763,AF399354,BK004581 GDB:10796755 HTPCRH02|OR11-169|OR5J1 pseudo 1354256 OR5J2 olfactory receptor, family 5, subfamily J, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,1370859 282775 NM_001005492,AB065595,AP003034,BK004517,CH471076,CS248602,X64974 NP_001005492,BAC05823,DAA04915,EAW73703,CAJ56817,Q8NH18,AAI56210,AAI56953 Hs.537145 GDB:11511015 OR11-266 protein-coding 1344902 OR5J7P olfactory receptor, family 5, subfamily J, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403276 NG_004428,AP003034 pseudo 1347070 OR5K1 olfactory receptor, family 5, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,1370859 26339 NM_001004736,AB065458,AC074274,BK004416,CH471052,X64984 NP_001004736,BAC05718,DAA04814,EAW79862,Q8NHB7,AAI46326,AAI48753 Hs.621533 GDB:10796756 HSHTPCRX10|HTPCRX10|OR3-8 protein-coding 1345283 OR5K2 olfactory receptor, family 5, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16641997,14983052 402135 NM_001004737,AB065457,AC021660,BK004415,CH471052,CS248212,BC136724,BC136725 NP_001004737,BAC05717,DAA04813,EAW79861,CAJ56631,AAI36725,AAI36726,Q8NHB8 Hs.632558 GDB:11507095 OR3-9 protein-coding 1347767 OR5K3 olfactory receptor, family 5, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403277 NM_001005516,AC108730,CH471052 NP_001005516,EAW79863,A6NET4 Hs.554709 protein-coding 1342893 OR5K4 olfactory receptor, family 5, subfamily K, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403278 NM_001005517,AC108730,AC117473,CH471052 NP_001005517,EAW79864,A6NMS3 Hs.554710 protein-coding 1345495 OR5L1 olfactory receptor, family 5, subfamily L, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,12477932 219437 NM_001004738,AB065780,AC022289,AC036111,BK004332,CH471076,CS248116,BC109249,BC109250,BC136939 NP_001004738,BAC06000,DAA04730,EAW73684,CAJ56585,AAI09250,AAI09251,AAI36940,Q8NGL2 Hs.553623 GDB:10795551 OR11-151|OST262 protein-coding 1342923 OR5L2 olfactory receptor, family 5, subfamily L, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,1370859 26338 NM_001004739,AB065782,AC036111,AF399526,BK004396,CH471076,CS248320,X64990 NP_001004739,BAC06002,AAK95011,DAA04794,EAW73686,CAJ56683,Q8NGL0 Hs.528356 GDB:10796237 HSHTPCRX16|HTPCRX16|OR11-153 protein-coding 1349395 OR5M1 olfactory receptor, family 5, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390168 NM_001004740,AB065501,AB065742,AF399522,AP002517,BK004402,CH471076,CS248306 NP_001004740,BAC05751,BAC05962,AAK95007,DAA04800,EAW73719,CAJ56676,Q8NGP8,Q8NH86 Hs.553751 GDB:10795552 OR11-208|OST050 protein-coding 1353504 OR5M10 olfactory receptor, family 5, subfamily M, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16554811,14983052 390167 NM_001004741,AP002517,BK004515,CH471076,CS248604 NP_001004741,DAA04913,EAW73718,CAJ56818,Q6IEU7 Hs.553750 GDB:11507097 OR11-207 protein-coding 1343585 OR5M11 olfactory receptor, family 5, subfamily M, member 11 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219487 NM_001005245,AF399521,AP002517,BK004656,CH471076,BC136951 NP_001005245,AAK95006,EAW73717,AAI36952,Q96RB7 Hs.553632 GDB:11507099 OR11-199 protein-coding 1350071 OR5M12P olfactory receptor, family 5, subfamily M, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81188 NG_004190,AP002517 GDB:11504081 pseudo 1350377 OR5M13P olfactory receptor, family 5, subfamily M, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10706615 81187 NG_002281,AF179769 GDB:11504103 pseudo 1604783 OR5M14P olfactory receptor, family 5, subfamily M, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 81421 NG_004263,AC105389 GDB:11507101 OR5M15P pseudo 1345187 OR5M2P olfactory receptor, family 5, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79523 NG_004154,AP002512 GDB:11507103 OR11-193 pseudo 1353329 OR5M3 olfactory receptor, family 5, subfamily M, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219482 NM_001004742,AB065746,AF399518,AP002512,BK004498,CH471076,CS248160 NP_001004742,BAC05966,AAK95003,DAA04896,EAW73715,CAJ56607,Q8NGP4 Hs.553631 GDB:11507105 OR11-191 protein-coding 1351815 OR5M4P olfactory receptor, family 5, subfamily M, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79518 NG_004152,AP002512 GDB:11507107 pseudo 1349304 OR5M5P olfactory receptor, family 5, subfamily M, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390166 AF399360,AP002512,BK004644,BK004652,BK004721,NG_004151,AB065743 GDB:11504083 pseudo 1352049 OR5M6P olfactory receptor, family 5, subfamily M, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79512 NG_004150,AP002512 GDB:11507109 pseudo 1352287 OR5M7P olfactory receptor, family 5, subfamily M, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79508 NG_004149,AP002512 GDB:11507111 pseudo 1343653 OR5M8 olfactory receptor, family 5, subfamily M, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219484 NM_001005282,AB065744,AF399520,AP002512,BK004499,CH471076,CS248158 NP_001005282,BAC05964,AAK95005,DAA04897,EAW73716,CAJ56606,Q8NGP6 Hs.554522 GDB:11507113 OR11-194 protein-coding 1347852 OR5M9 olfactory receptor, family 5, subfamily M, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390162 NM_001004743,AB065747,AF399519,AP002512,BK004497,CH471076 NP_001004743,BAC05967,AAK95004,DAA04895,EAW73714,Q8NGP3,AAI40459,AAI48708 Hs.553749 GDB:11507115 OR11-190 protein-coding 1346767 OR5P1P olfactory receptor, family 5, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79283 NG_004139,AC021427 GDB:11507117 pseudo 1344577 OR5P2 olfactory receptor, family 5, subfamily P, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,14983052,12477932,11705801 120065 NM_153444,AB065767,BK004322,CH471064,CS248198,AF173006,AF220494,BC101710,BC113557 NP_703145,BAC05987,DAA04720,EAW68646,CAJ56625,AAL32992,AAL32995,AAI01711,AAI13558,Q6IFE0,Q8WZ86,Q8WZ92 Hs.351824 GDB:11507119 JCG3|JCG4|MGC126759|MGC142117 protein-coding 1352607 OR5P3 olfactory receptor, family 5, subfamily P, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199,11705801 120066 NM_153445,AB065770,AF399366,BK004321,CH471064,CS248294,AF158377 NP_703146,BAC05990,DAA04719,EAW68645,CAJ56670,AAL32991,Q6IFE1,Q8WZ94,AAI41522 Hs.351825 GDB:11507121 JCG1 protein-coding 1349329 OR5P4P olfactory receptor, family 5, subfamily P, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81185 NG_004189,AC021427 GDB:11507123 OST730 pseudo 1351573 OR5R1 olfactory receptor, family 5, subfamily R, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219479 NM_001004744,AB065504,AP002512,BK004514,CH471076,CS248564 NP_001004744,BAC05752,DAA04912,EAW73713,CAJ56868,Q8NH85 Hs.553630 OR11-185|OR5R1P protein-coding 1353442 OR5S1P olfactory receptor, family 5, subfamily S, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 391496 NG_004369,AC013469 GDB:11507125 pseudo 1354464 OR5T1 olfactory receptor, family 5, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390155 NM_001004745,AB065962,AC022882,BK004336,CH471076,CS248594,BC136992 NP_001004745,BAC06174,DAA04734,EAW73706,CAJ56813,AAI36993,Q8NG75 Hs.553747 OR11-179|OR5T1P protein-coding 1347254 OR5T2 olfactory receptor, family 5, subfamily T, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 219464 NM_001004746,AB065838,AC022882,BK004334,CH471076 NP_001004746,BAC06057,DAA04732,EAW73704,Q6IFC8,Q8N1H0,Q8NGG2 Hs.553627 GDB:11507129 OR11-177 protein-coding 1351333 OR5T3 olfactory receptor, family 5, subfamily T, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 390154 NM_001004747,AB065837,AC022882,BK004335,CH471076 NP_001004747,BAC06056,DAA04733,EAW73705,Q6IFC7,Q8NGG3 Hs.553746 GDB:11507131 OR11-178|OR5T3Q protein-coding 1348304 OR5V1 olfactory receptor, family 5, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17684544,14983052,14574404,12637542,12477932 81696 NM_030876,AL662781,AL732432,BK004440,BX927232,CH471081,AJ459859,BC069149 NP_110503,CAI18131,CAI17829,DAA04838,CAQ08989,EAX03189,CAD31042,AAH69149,Q6NTB5,Q9UGF6,AAI48488 Hs.666316 GDB:11507135 6M1-21|hs6M1-21 protein-coding 1350624 OR5W1P olfactory receptor, family 5, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81182 NG_004188,AC036111 GDB:11507137 OR11-144 pseudo 1342811 OR5W2 olfactory receptor, family 5, subfamily W, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390148 NM_001001960,AB065520,AC036111,AF399355,BK004398,CH471076 NP_001001960,BAC05768,DAA04796,EAW73690,Q8NH69 Hs.554526 OR5W2P|OR5W3P protein-coding 1605112 OR6A2 olfactory receptor, family 6, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9787077,15489334,14983052,12477932,11416212 8590 NM_003696,AB065822,AC002555,AC087280,AF065870,AF321237,BK004427,CH471064,BC101489,BC101491 NP_003687,BAC06041,AAC70018,AAG45208,DAA04825,EAW68676,AAI01490,AAI01492,O95222 Hs.652252 I7|MGC126538|MGC126540|OR11-55|OR6A1|OR6A2P protein-coding 1351550 OR6B1 olfactory receptor, family 6, subfamily B, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12853948,12213199 135946 NM_001005281,AC004853,AF399605,BK004216,CH236959,BC137047 NP_001005281,AAK95090,DAA04614,EAL23796,AAI37048,O95007,Q6IFP6 Hs.632031 GDB:10795553 OR7-3|OR7-9 protein-coding 1348824 OR6B2 olfactory receptor, family 6, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12477932 389090 Q6IFH4 AB065663,AC013469,BK004288,CH471063,BC065821,NM_001005853 NP_001005853,BAC05889,DAA04686,EAW71176,Q6IFH4 Hs.531343 GDB:11504089 OR2-1|OR6B2P protein-coding 1350028 OR6B3 olfactory receptor, family 6, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 150681 NM_173351,AB065662,BK004289,CH471063 NP_775486,BAC05888,DAA04687,EAW71177,Q8NGW1 Hs.626616 GDB:11504091 OR6B3P|OR6B3Q protein-coding 1342545 OR6C1 olfactory receptor, family 6, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16541075,12213199 390321 NM_001005182,AC122684,AF399506,CH471054 NP_001005182,AAK94991,EAW96806,Q96RD1 Hs.553763 GDB:10795555 OST267 protein-coding 1604704 OR6C2 olfactory receptor, family 6, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10706615,16541075 341416 NM_054105,AC122685,AF179766 NP_473446,AAF40351,Q9NZP2,AAI48631 Hs.524483 GDB:11508747 OR6C67 protein-coding 1343219 OR6C3 olfactory receptor, family 6, subfamily C, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 10706615,16541075 254786 AF179770,CH471054,NM_054104,AC122684 AAI48525,AAI53120,AAF40353,EAW96807,Q9NZP0,NP_473445 Hs.553653 GDB:11508748 OST709 protein-coding 1345773 OR6C4 olfactory receptor, family 6, subfamily C, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,7509350,1316921 341418 NM_001005494,AB065869,AC009779,BK004261,CH471054,CS248574,L19282,L19287,M87866 NP_001005494,BAC06087,DAA04659,EAW96815,CAJ56803,AAA20162,AAA20165,AAA61072,Q6IFK1,Q8NGE1 Hs.495021,Hs.554552 GDB:11511017 OR12-10 protein-coding 1352046 OR6C5P olfactory receptor, family 6, subfamily C, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390320 NG_004345,AC122684 pseudo 1352413 OR6C6 olfactory receptor, family 6, subfamily C, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 283365 NM_001005493,AC122684 NP_001005493,A6NF89 Hs.554555 protein-coding 1347665 OR6C64P olfactory receptor, family 6, subfamily C, member 64 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403281 NG_004429,AC122685 pseudo 1349043 OR6C65 olfactory receptor, family 6, subfamily C, member 65 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403282 NM_001005518,AC125816,CH471054 NP_001005518,EAW96810,A6NJZ3 Hs.554553 protein-coding 1351296 OR6C66P olfactory receptor, family 6, subfamily C, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403283 NG_004430,AC125816 pseudo 1347505 OR6C68 olfactory receptor, family 6, subfamily C, member 68 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403284 NM_001005519,AC122685,CH471054 NP_001005519,EAW96814,A6NDL8 Hs.626886 protein-coding 1342577 OR6C69P olfactory receptor, family 6, subfamily C, member 69 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403285 NG_004431,AC122684 pseudo 1346205 OR6C70 olfactory receptor, family 6, subfamily C, member 70 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390327 NM_001005499,AC122685,CH471054 NP_001005499,EAW96813,A6NIJ9 Hs.632718 protein-coding 1342600 OR6C71P olfactory receptor, family 6, subfamily C, member 71 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390324 NG_004347,AC125816 pseudo 1347303 OR6C72P olfactory receptor, family 6, subfamily C, member 72 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403288 AC122684,NG_004432 pseudo 1351208 OR6C73P olfactory receptor, family 6, subfamily C, member 73 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403289 NG_004433,AC125816 pseudo 1350920 OR6C74 olfactory receptor, family 6, subfamily C, member 74 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 254783 NM_001005490,AC122684,CH471054 NP_001005490,EAW96805 Hs.554556 protein-coding 1353505 OR6C75 olfactory receptor, family 6, subfamily C, member 75 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390323 NM_001005497,AC125816,CH471054 NP_001005497,EAW96808,A6NL08 Hs.554554 protein-coding 1350278 OR6C76 olfactory receptor, family 6, subfamily C, member 76 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390326 NM_001005183,AC125816,CH471054 NP_001005183,EAW96811,A6NM76 Hs.553764 protein-coding 1347271 OR6C7P olfactory receptor, family 6, subfamily C, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390322 NG_004346,AC125816 pseudo 1603536 OR6D1P olfactory receptor, family 6, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 220974 NG_004293,AF399475,AL512324 GDB:11507183 OR6D2P pseudo 1349555 OR6E1P olfactory receptor, family 6, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 79323 NG_002244,AF399346,AL160314 GDB:11507187 pseudo 1352611 OR6F1 olfactory receptor, family 6, subfamily F, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12908129,12213199 343169 NM_001005286,AB065619,AC118470,AF399604,AY284133,BK004460,BK004745,CH471148,CS248402 NP_001005286,BAC05846,AAK95089,DAA04858,EAW77199,CAJ56721,Q8NGZ6 Hs.591529 GDB:11507189 OR1-34|OR1-38|OST731 protein-coding 1350971 OR6J1 olfactory receptor, family 6, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79549 NG_002274,AB065892,AC023226 BAC06108,Q8NGC5 OR6J1P|OR6J2 pseudo 1348899 OR6K1P olfactory receptor, family 6, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81449 NG_004271,AL513205 GDB:11507195 pseudo 1352681 OR6K2 olfactory receptor, family 6, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 81448 NM_001005279,AB065634,AL513205,BK004196,CH471121,CS248418 NP_001005279,BAC05860,CAH73787,DAA04594,EAW52815,CAJ56729,Q6IFR6,Q8NGY2 Hs.554489 GDB:11507197 OR1-17 protein-coding 1352543 OR6K3 olfactory receptor, family 6, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052 391114 NM_001005327,AB065632,AB065633,AL513205,BK004197,CH471121 NP_001005327,BAC05858,BAC05859,CAH73788,DAA04595,EAW52813,EAW52814,Q6IFR5,Q8NGY3,Q8NGY4 Hs.554488 GDB:11507199 OR1-18 protein-coding 1344692 OR6K4P olfactory receptor, family 6, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 128370 NG_004288,AL513205 GDB:11504093 pseudo 1343868 OR6K5P olfactory receptor, family 6, subfamily K, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391115 NG_004363,AL513205 GDB:11507201 pseudo 1351378 OR6K6 olfactory receptor, family 6, subfamily K, member 6 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052 128371 NM_001005184,AB065650,AL513205,BK004198,CH471121 NP_001005184,BAC05876,CAH73791,DAA04596,EAW52811,Q6IFR4,Q8NGW6 Hs.553591 GDB:11507203 OR1-21 protein-coding 1346436 OR6L1P olfactory receptor, family 6, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 8782825 390012 NG_002282,AL161645 GDB:11504326 pseudo 1349290 OR6L2P olfactory receptor, family 6, subfamily L, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81356 NG_004252,AL161645 GDB:11507205 pseudo 1344052 OR6M1 olfactory receptor, family 6, subfamily M, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12908129,12213199 390261 NM_001005325,AB065762,AF399606,AP000868,AY284165,BK004493,CH471065,CS248202 NP_001005325,BAC05982,AAK95091,DAA04891,EAW67556,CAJ56627,Q8NGM8 Hs.557924 GDB:11507207 OR11-271 protein-coding 1349437 OR6M2P olfactory receptor, family 6, subfamily M, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79546 NG_004155,AP000868 GDB:11507209 pseudo 1352678 OR6M3P olfactory receptor, family 6, subfamily M, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79321 NG_004140,AP000868 GDB:11507211 pseudo 1347518 OR6N1 olfactory receptor, family 6, subfamily N, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052,12213199 128372 NM_001005185,AB065631,AF399608,AL513205,BK004199,CH471121,CS248108,BC146847 NP_001005185,BAC05857,AAK95093,CAH73792,DAA04597,EAW52810,CAJ56581,AAI46848,Q6IFR3,Q8NGY5 Hs.553592 GDB:11507213 OR1-22 protein-coding 1350201 OR6N2 olfactory receptor, family 6, subfamily N, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 81442 NM_001005278,AB065630,AL513205,BK004200,CH471121,CS248420 NP_001005278,BAC05856,CAH73793,DAA04598,EAW52809,CAJ56730,Q6IFR2,Q8NGY6 Hs.554487 GDB:11507215 OR1-23 protein-coding 1347277 OR6P1 olfactory receptor, family 6, subfamily P, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 16710414,14983052 128366 NG_004287,AB065637,AL160283,BK004193 BAC05863,CAH72416,DAA04591,Q8NGX9 GDB:11507217 pseudo 1352757 OR6Q1 olfactory receptor, family 6, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219952 NM_001005186,AB065737,AF399609,AP003401,BK004291,CH471076,CS248226 NP_001005186,BAC05958,AAK95094,DAA04689,EAW73795,CAJ56638,Q6IFH1,Q8NGQ2 Hs.690432 GDB:11507219 OR11-226 protein-coding 1343962 OR6R1P olfactory receptor, family 6, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81440 NG_004270,AC099571 GDB:11507221 pseudo 1343419 OR6R2P olfactory receptor, family 6, subfamily R, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403294 NG_004434,AC129925 pseudo 1348726 OR6S1 olfactory receptor, family 6, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 341799 NM_001001968,AB065561,AL163636,BK004263,CH471078,CS248264 NP_001001968,BAC05799,DAA04661,EAW66452,CAJ56656,Q6IFJ9,Q8NH40 Hs.513132 GDB:11507223 OR14-37|OR6S1Q protein-coding 1344490 OR6T1 olfactory receptor, family 6, subfamily T, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219874 NM_001005187,AB065759,AC019108,AP002407,BK004315,CH471065,CS248094,BC136906 NP_001005187,BAC05979,DAA04713,EAW67562,CAJ56574,AAI36907,Q6IFE7,Q8NGN1 Hs.553638 GDB:11507225 OR11-277 protein-coding 1345888 OR6U2P olfactory receptor, family 6, subfamily U, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390329 NG_004348,AC009779 GDB:11511019 OR6U1P pseudo 1345347 OR6V1 olfactory receptor, family 6, subfamily V, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12732197,12690205 346517 NM_001001667,AB065697,AB065873,AC099652,BK004392,CH236959,CH471198,CS248340 NP_001001667,BAC05920,BAC06091,DAA04790,EAL23780,EAW51889,CAJ56692,Q6IF70,Q8N148 Hs.554721 GDB:11507229 protein-coding 1350213 OR6W1P olfactory receptor, family 6, subfamily W, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12477932,12213199 89883 NR_002140,AB065875,AB065957,AC099652,AF399607,CH236959,AF286696,BC069382,BC074961,BC074962 BAC06093,BAC06170,AAH69382,AAH74961,AAH74962,Q6DJW7,Q8NG79,Q8NGD8 Hs.339818 OR6W1|sdolf pseudo 1349187 OR6X1 olfactory receptor, family 6, subfamily X, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390260 AB065510,NM_001005188,AP000868,BK004362,CH471065,CS248142 NP_001005188,CAJ56598,Q8NH79,BAC05758,DAA04760,EAW67555 Hs.553759 GDB:11507233 OR11-270 protein-coding 1347188 OR6Y1 olfactory receptor, family 6, subfamily Y, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 16710414,14983052 391112 NM_001005189,AB065638,AL365440,BK004192,CH471121,CS248228 NP_001005189,BAC05864,CAH70563,DAA04590,EAW52823,CAJ56639,Q8NGX8 Hs.553780 GDB:11507235 OR1-11|OR6Y2 protein-coding 1604685 OR7A10 olfactory receptor, family 7, subfamily A, member 10 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 15057824,14983052,12213199 390892 NM_001005190,AC005255,AF399542,BK004222,CH471106 NP_001005190,AAC25627,AAK95027,DAA04620,EAW84451,O76100 Hs.553776 GDB:10795568 BC85395_3|OR19-18 protein-coding 1349363 OR7A11P olfactory receptor, family 7, subfamily A, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26669 NG_002215,AC004659 GDB:10795570 OR7A11|OST527 pseudo 1351094 OR7A15P olfactory receptor, family 7, subfamily A, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9500546 26335 U86253,U86254,U86256,NG_002311,AF399435 GDB:10796761 OR19-1|OR19-134|OR19-146|OR7A16P|OR7A20P|OR7A4P pseudo 1318908 OR7A17 olfactory receptor, family 7, subfamily A, member 17 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,15057824,14983052,12477932,12213199,1370859 26333 NM_030901,AC002988,AC005255,AF399541,BK004206,CH471106,BC101587,BC117357,X64993 NP_112163,AAB82060,AAC25628,AAK95026,DAA04604,EAW84453,AAI01588,AAI17358,O14581,Q9UEB1 Hs.247717 GDB:10796763 BC85395_4|HTPCRX19|MGC126636 protein-coding 1348742 OR7A18P olfactory receptor, family 7, subfamily A, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81081 NG_002278,AC002988 GDB:11507237 pseudo 1352801 OR7A19P olfactory receptor, family 7, subfamily A, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 387853 NG_004313,AC008035 GDB:11507239 pseudo 1346902 OR7A1P olfactory receptor, family 7, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390895 NG_004361,AC002988 GDB:10795556 OLF4p|OR19-3|OR7A6P|hg513 pseudo 1351275 OR7A2P olfactory receptor, family 7, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 15057824,12213199 390894 NG_004087,AB065924 BAC06139,Q8NGA2 OLF4p|OR19-18|OR7A2|OR7A7|hg1003 pseudo 1343369 OR7A3P olfactory receptor, family 7, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077,9500546 26668 NG_002170,AC098791,AF065859 GDB:9955734 OR11-7b|OR14-11|OR14-59|OR19-12|OR7A12P|OR7A13P|OR7A14|OR7A14P pseudo 1353918 OR7A5 olfactory receptor, family 7, subfamily A, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9119360,15489334,15057824,14983052,12477932,12213199,9268701,1370859 26659 NM_017506,AC005255,AF399543,BK004221,CH471106,Y10530,BC104809,X64976,X89677 NP_059976,AAC25626,AAK95028,DAA04619,EAW84450,CAA71558,AAI04810,CAA61824,Q15622 Hs.137573,Hs.690626 GDB:10795562 HTPCR2 protein-coding 1353515 OR7A8P olfactory receptor, family 7, subfamily A, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 26661 NG_003166,AF399434 GDB:10795566 HG83|OR19-11|OR7A9P|OST042 pseudo 1343510 OR7C1 olfactory receptor, family 7, subfamily C, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9268701,15057824,14983052,12477932,12213199,9119360 26664 NM_198944,AC005255,AF399546,BK004220,BC117212,X89676 NP_945182,AAC25625,AAK95031,DAA04618,AAI17213,CAA61823,O76099,Q17RS1,Q6IFP2 Hs.466053 GDB:10795574 CIT-HSP-146E8|HSTPCR86P|OR19-5|OR7C4|TPCR86 protein-coding 1344773 OR7C2 olfactory receptor, family 7, subfamily C, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15057824,14983052,12477932,12213199,9500546 26658 AC004659,NM_012377,AF399545,BK004213,CH471106,U86255,BC110063 AAC15755,NP_036509,AAK95030,DAA04611,EAW84455,AAC39626,O60412,Q6IFP9,AAI40247,AAI41625 Hs.589620 GDB:10795576 CIT-HSP-87M17|OR19-18|OR7C3 protein-coding 1346100 OR7D11P olfactory receptor, family 7, subfamily D, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403295 NG_005822,AC011464 pseudo 1347515 OR7D1P olfactory receptor, family 7, subfamily D, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 26656 NG_002212,U86251 GDB:10795579 OR19-131|OR19-A|OR7D3|OR7D3P pseudo 1353359 OR7D2 olfactory receptor, family 7, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,14702039,12213199,1370859 162998 NM_175883,AB065928,AC011464,AF399537,BK004265,CH471106,CS248310,AK095468,X64975 NP_787079,BAC06143,AAK95022,DAA04663,EAW84017,CAJ56678,BAC04554,Q6IFJ7,Q96RA2,AAI41585 Hs.531755 GDB:10795581 FLJ38149|HTPCRH03|OR19-10|OR19-4 protein-coding 1346280 OR7D4 olfactory receptor, family 7, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 17873857,14983052,12213199 125958 NM_001005191,AB065929,AC011464,AF399429,BK004226,CH471106,CS248314,EU049291,BC137162 NP_001005191,BAC06144,DAA04624,EAW84021,CAJ56680,ABV66282,AAI37163,Q8NG98 Hs.446910 OR19-7|OR19-B|OR7D4P|hg105 protein-coding 1604782 OR7E100P olfactory receptor, family 7, subfamily E, member 100 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81430 NG_004266,AC092692 GDB:11504129 OR7E135P pseudo 1348151 OR7E101P olfactory receptor, family 7, subfamily E, member 101 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81138 NG_004175,AL138686,AL157365 GDB:11504314 pseudo 1347846 OR7E102P olfactory receptor, family 7, subfamily E, member 102 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 400984 NG_004385,AC009237 OR7E102 pseudo 1605615 OR7E104P olfactory receptor, family 7, subfamily E, member 104 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81137 NG_004174,AL445238,AL137719 Hs.568153 GDB:11504316 pseudo 1351798 OR7E105P olfactory receptor, family 7, subfamily E, member 105 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 81116 NG_004171,AB065878,AF399405,AL079307,BK004809 GDB:11504133 OR14-NP1 pseudo 1349640 OR7E106P olfactory receptor, family 7, subfamily E, member 106 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 81115 AF399387,AL079307,NG_004170 GDB:11504135 OR14-NP2|OR7E34P|OR7E40P|OST011|OST215 pseudo 1353689 OR7E108P olfactory receptor, family 7, subfamily E, member 108 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81363 NG_004254,AL354862 GDB:11504320 OST726 pseudo 1349880 OR7E109P olfactory receptor, family 7, subfamily E, member 109 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 401540 NG_004386,AF399394,AL446024 GDB:11504137 OR7E113P|OST721 pseudo 1342642 OR7E10P olfactory receptor, family 7, subfamily E, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077 10823 NG_002183,AC068587,AF399403 GDB:9958382 OR11-1 pseudo 1352117 OR7E110P olfactory receptor, family 7, subfamily E, member 110 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81354 NG_004251,AL360083 GDB:11504179 OR7E68P|OR7E71P|OR7E72P|OR7E73P|OR7E74P|OR7E75P|OR912-108|OR912-109|OR912-110|OR912-46|hg523|hg674 pseudo 1605616 OR7E111P olfactory receptor, family 7, subfamily E, member 111 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81136 NG_004173,AL353580 GDB:11504181 pseudo 1349029 OR7E115P olfactory receptor, family 7, subfamily E, member 115 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 81353 NG_004692,AF399411,AL157391,BK004797 GDB:11504324 OR10-2|OST704 pseudo 1343886 OR7E116P olfactory receptor, family 7, subfamily E, member 116 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 81358 NG_004253,AF399421,AL389888 GDB:11504139 OR7E112P|OST733 pseudo 1351088 OR7E117P olfactory receptor, family 7, subfamily E, member 117 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 399857 NG_004384,AC060812 GDB:11504183 OST716 pseudo 1354022 OR7E11P olfactory receptor, family 7, subfamily E, member 11 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9787077 10822 AP003385,NG_002181,AF065853 GDB:9958380 OR11-2|OR7E144P pseudo 1605781 OR7E121P olfactory receptor, family 7, subfamily E, member 121 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402133 NG_004395,AC108724 GDB:11504209 pseudo 1353733 OR7E122P olfactory receptor, family 7, subfamily E, member 122 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81428 NG_004265,AC034187 GDB:11504211 OST719 pseudo 1352731 OR7E125P olfactory receptor, family 7, subfamily E, member 125 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 11705801 389616 NG_004256,AB065482,AC084121,AF228730,AF359416 BAC05735,Q8NHA0,Q8NHA1 Hs.575598 GDB:11504141 PJCG6 pseudo 1605612 OR7E126P olfactory receptor, family 7, subfamily E, member 126 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077,7566098 81176 NG_002280,AB065487,AF065852,AF399380,AP000719 GDB:11504213 OR11-1|hg500 pseudo 1605613 OR7E128P olfactory receptor, family 7, subfamily E, member 128 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81175 NG_004186,AP002495 GDB:11504217 pseudo 1342530 OR7E129P olfactory receptor, family 7, subfamily E, member 129 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 391576 NG_004264,AB065488,AC083906,AF399416 GDB:11504219 pseudo 1344637 OR7E12P olfactory receptor, family 7, subfamily E, member 12 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077 10821 NG_002179,AC123788,AF065854,AF399383 GDB:9958378 HG1058|OR11-3|OR7E58P|OR7E79P|OR7E81P|OST021 pseudo 1350838 OR7E130P olfactory receptor, family 7, subfamily E, member 130 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 389144 NG_004314,AF186996 GDB:11504221 OST702 pseudo 1350111 OR7E136P olfactory receptor, family 7, subfamily E, member 136 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 155340 NG_004291,AC079804 GDB:11511024 OR7E139P|OR7E147P pseudo 1347472 OR7E138P olfactory receptor, family 7, subfamily E, member 138 pseudogene 282730 GDB:11511026 1354415 OR7E13P olfactory receptor, family 7, subfamily E, member 13 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,11705801,9787077 10820 NG_002177,AF065855,AF399398,AF238487 Hs.684491 GDB:9958376 OR11-4|OR7E44P|OST022|PJCG2 pseudo 1343275 OR7E140P olfactory receptor, family 7, subfamily E, member 140 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12477932 344729 NG_004309,AC092865,BC044942 Hs.434403 GDB:11511028 pseudo 1351380 OR7E145P olfactory receptor, family 7, subfamily E, member 145 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390215 NG_004336,AP003385 GDB:11511036 pseudo 1352217 OR7E148P olfactory receptor, family 7, subfamily E, member 148 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282801 NG_004303,AC092865 GDB:11511039 OR7E150P pseudo 1350242 OR7E149P olfactory receptor, family 7, subfamily E, member 149 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282756 NG_004297,AC092865 GDB:11511041 pseudo 1346579 OR7E14P olfactory receptor, family 7, subfamily E, member 14 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9787077 10819 NG_002175,AC116533,AF065856 GDB:9958374 OR11-5|OR7E151P pseudo 1348707 OR7E154P olfactory receptor, family 7, subfamily E, member 154 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403296 NG_004634,AC084121,AF228730 pseudo 1344575 OR7E155P olfactory receptor, family 7, subfamily E, member 155 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403297 NG_004435,AL731858 pseudo 1353945 OR7E156P olfactory receptor, family 7, subfamily E, member 156 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12477932,14702039 283491 NR_002171,AL445989,AK097469,AK097490,AK097573,BC113028,BC113029 Q08EI1 Hs.363054,Hs.694575 pseudo 1345998 OR7E157P olfactory receptor, family 7, subfamily E, member 157 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403219 NG_004633,AC134684 pseudo 1343587 OR7E158P olfactory receptor, family 7, subfamily E, member 158 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392194 NG_004376,AC107918 pseudo 1345051 OR7E159P olfactory receptor, family 7, subfamily E, member 159 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403299 NG_004436,AL079307 pseudo 1605113 OR7E15P olfactory receptor, family 7, subfamily E, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077 8588 NG_002168,AC068587,AF399386 GDB:9955732 OR11-392|OR7E42P|OR7E80P|OST001 pseudo 1348777 OR7E160P olfactory receptor, family 7, subfamily E, member 160 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 402333 NG_004399,AC107918,AC130366 pseudo 1348210 OR7E161P olfactory receptor, family 7, subfamily E, member 161 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 389626 NG_004315,AC107918 pseudo 1606626 OR7E162P olfactory receptor, family 7, subfamily E, member 162 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 442101 NG_004863,AC147876,AF399373 OR7E77|OR7E77P|OST060 pseudo 1345255 OR7E16P olfactory receptor, family 7, subfamily E, member 16 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 26473 NG_002189,U86252 GDB:10796766 OR19-133|OR19-9|OR7E17P|OR7E60P pseudo 1353005 OR7E18P olfactory receptor, family 7, subfamily E, member 18 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9119360 390885 NG_004360,AC006271,X89673 CAA61820,Q15618 Hs.381327 GDB:10795588 HSTPCR26P|OR19-14|OR7E61|OR7E98P|TPCR26 pseudo 1346922 OR7E19P olfactory receptor, family 7, subfamily E, member 19 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9119360 26651 NG_002356,AC006271,X89668 AAD03354,Q15613,Q9UPJ0 Hs.537315 GDB:10795590 HSCIT-B-440L2|OR19-7|OR7E65|TPCR11|tpcr110 pseudo 1348693 OR7E1P olfactory receptor, family 7, subfamily E, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 341128 NG_004307,AC004923 GDB:10795583 pseudo 1344049 OR7E20P olfactory receptor, family 7, subfamily E, member 20 pseudogene 10036190 9434 GDB:9956689 1344405 OR7E21P olfactory receptor, family 7, subfamily E, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10036190 9432 NG_004123,AC083906 GDB:9956682 OR4DG|OR7E127P|OR7E141P|OR7E142P|OR7E49P|OST035 pseudo 1606324 OR7E22P olfactory receptor, family 7, subfamily E, member 22 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10036190,9817916 9431 NG_004122,AC131233 GDB:9956678 OR3.6|OR6DG pseudo 1348348 OR7E23P olfactory receptor, family 7, subfamily E, member 23 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,10830953 391279 NG_004368,AF399396,AP000275 GDB:11511044 OR21-1|OR21-3|OR7E92P pseudo 1351971 OR7E24 olfactory receptor, family 7, subfamily E, member 24 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9268701,15057824,14983052,12213199,11385110 26648 NM_001079935,AC006271,AF399400,BK004227,Y10529 NP_001073404,AAD03353,DAA04625,CAA71557,O43789,Q6IFN5,AAI56696 Hs.129832 HSHT2|OR19-8|OR7E24P|OR7E24Q protein-coding 1342582 OR7E25P olfactory receptor, family 7, subfamily E, member 25 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26647 NG_004132,AC011464 GDB:10795594 CIT-B-440L2|OR19-12|OR19-C pseudo 1351518 OR7E26P olfactory receptor, family 7, subfamily E, member 26 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9500546 401637 NG_002315,AF399375,AF399384,AL157391,U86217,U86218,U86219,U86290,U86291,U86292,U86293,U86295,U86301 GDB:10796768 OR1-51|OR1-72|OR1-73|OR7E67P|OR7E68P|OR7E69P|OR7E70P|OR7E71P|OR7E72P|OR7E73P|OR7E74P|OR7E75P|OR912-108|OR912-109|OR912-110|OR912-46|OR912-95|hg523|hg674 pseudo 1353861 OR7E28P olfactory receptor, family 7, subfamily E, member 28 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 26645 NG_004131,AC064843 GDB:10795597 OR7E107P|OR7E133P|OR7E27P|OST128|hg616 pseudo 1352158 OR7E29P olfactory receptor, family 7, subfamily E, member 29 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 26644 NG_004130,AF186996,AF399389 GDB:10795598 OR7E30P|OST032|OST339 pseudo 1347286 OR7E2P olfactory receptor, family 7, subfamily E, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077 8587 NG_002166,AF065857,AF399424 GDB:9955728 OR11-6|OR7E143P|OR7E51P|OR7E52P|OR7F2P|OST245|hg94 pseudo 1349154 OR7E31P olfactory receptor, family 7, subfamily E, member 31 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12477932,12213199 375601 NG_004666,AF399390,AL389888,BK004731 GDB:10795601 MGC72080|OR7E114P|OR7E32P|OR7E45P|OR9-4|OST016|OST049|OST205 pseudo 1605398 OR7E33P olfactory receptor, family 7, subfamily E, member 33 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26640 NG_002211,AC055823 GDB:10795603 hg688 pseudo 1345032 OR7E35P olfactory receptor, family 7, subfamily E, member 35 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 9847074 391632 NG_004371,AC098976,AF073924 AAF72204,Q9P1R1 Hs.404129 GDB:10795605 OR7E120|OST018 pseudo 1342630 OR7E36P olfactory receptor, family 7, subfamily E, member 36 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26637 NG_004129,AL731858 GDB:10795606 OR7E119P|OST024 pseudo 1351584 OR7E37P olfactory receptor, family 7, subfamily E, member 37 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,8889549 26636 NR_002163,XR_042149,AF399393,AL354833 GDB:10795607 OR7E48P|OST193|hg533 pseudo 1347274 OR7E38P olfactory receptor, family 7, subfamily E, member 38 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 389537 NG_002209,AC004967,AF399392,CH236956,AA042813,AA626037,AA938905,AI766441,AI805592,AI949299,AW874308 Hs.655977 GDB:10795608 OR7E76|OST127 pseudo 1349306 OR7E39P olfactory receptor, family 7, subfamily E, member 39 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9847074 253933 NG_004294,AC079882,AF399377 GDB:10795610 OR7E138P|hg611 pseudo 1348285 OR7E41P olfactory receptor, family 7, subfamily E, member 41 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077,9500546 8583 NG_002158,AC090835,AF065867,AF399425,U86286 GDB:9955711 OR11-20|OR7E50P|OR7E95P|OR7F6P|OR8-126|hg84 pseudo 1347082 OR7E43P olfactory receptor, family 7, subfamily E, member 43 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 26475 NG_002191,U86267 GDB:10796769 OR4-116|OR7E124P|OST712 pseudo 1352665 OR7E46P olfactory receptor, family 7, subfamily E, member 46 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 402077 NG_004394,AC007881 GDB:10795615 MCEEP|OST379 pseudo 1346572 OR7E47P olfactory receptor, family 7, subfamily E, member 47 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12477932,8647456 26628 NG_004128,AC078864,BC042060,X87825 Hs.524431 GDB:10795616 OR7E141 pseudo 1353999 OR7E4P olfactory receptor, family 7, subfamily E, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077 8585 NG_002162,AB065524,AF065864,AF399418 GDB:9955720 OR11-11a|OR7E9P|OR7F4P|OST289 pseudo 1343431 OR7E53P olfactory receptor, family 7, subfamily E, member 53 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 26478 NG_002316,U86261,U86262 GDB:11507249 OR3-142|OR3-143|OR7E132P|OR7E78|OR7E78P pseudo 1343489 OR7E55P olfactory receptor, family 7, subfamily E, member 55 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 391548 NG_004370,AC139453 GDB:10795622 OR2DG|OR3.2|OR7E56P|OR7E57P|OST007|OST013 pseudo 1347133 OR7E59P olfactory receptor, family 7, subfamily E, member 59 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9847074 402249 NG_004398,AC079804,AF399374 GDB:10795628 OR7E137P|OR7E59|OST119 pseudo 1342787 OR7E5P olfactory receptor, family 7, subfamily E, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,14702039,12213199,9787077 219445 NG_002160,AB065945,AF065865,AF399402,AP003033,BK004660,CH471076,AK055955 BAC06158,EAW73693,BAB71055,Q96N54 Hs.350816 GDB:9955715 FLJ31393|OR11-12|OR11-156|OR7F5P pseudo 1353519 OR7E62P olfactory receptor, family 7, subfamily E, member 62 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9500546 26479 NG_002317,U86257,U86258,U86259,U86260 GDB:11507251 OR2-4|OR2-52|OR2-53|OR2-75|OR7E62|OR7E63|OR7E63P|OR7E64|OR7E64P|OR7E82P pseudo 1352476 OR7E66P olfactory receptor, family 7, subfamily E, member 66 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,10036190,9817916 26614 NG_004127,AC117481,AC131233,AF399382 GDB:9956686 OR3.3|OR3DG|OR7E20P|OR7E6P|hg630 pseudo 1350690 OR7E7P olfactory receptor, family 7, subfamily E, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 392752 NG_002208,AC004967 GDB:10795584 pseudo 1350161 OR7E83P olfactory receptor, family 7, subfamily E, member 83 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 391630 NG_002251,AC097493,AC116655 GDB:11504276 OR7E134P pseudo 1342786 OR7E84P olfactory receptor, family 7, subfamily E, member 84 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 390288 NG_002276,AC097493,AC116655 GDB:11504278 OR7E54P|OST185 pseudo 1353761 OR7E85P olfactory receptor, family 7, subfamily E, member 85 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 442105 AB065455,AC097493,AC116655,AA704815,AW009208,NG_002249 BAC05716,Q8NHB9 Hs.503150,Hs.535167 GDB:11504280 OR7E118P|OR7E88P pseudo 1351852 OR7E86P olfactory receptor, family 7, subfamily E, member 86 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 442104 NG_002248,AB065942,AC097493,AC116655 BAC06156,Q8NG89,Q8NH97 GDB:11504282 pseudo 1345003 OR7E87P olfactory receptor, family 7, subfamily E, member 87 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,9787077 8586 NG_002164,AB065550,AF065862,AP000867,BK004803 BAC05793,Q8NH46 GDB:11504284 OR11-261|OR11-9|OR7E3P|OR7F3P pseudo 1347102 OR7E89P olfactory receptor, family 7, subfamily E, member 89 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79540 NG_002272,AC069348 GDB:11504286 pseudo 1343516 OR7E8P olfactory receptor, family 7, subfamily E, member 8 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 346708 NG_002207,AB065485,AB065553,AC068587,AF399408 GDB:11504199 OR11-11a pseudo 1344790 OR7E90P olfactory receptor, family 7, subfamily E, member 90 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79537 NG_002271,AC069348 GDB:11504201 OR7E123P|OST705 pseudo 1352609 OR7E91P olfactory receptor, family 7, subfamily E, member 91 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12477932,9847074 79315 NR_002185,AC007040,BC014374,BC030991 AAH14374,AAH30991,Q8NEI9,Q96CD9 Hs.327033 GDB:11504203 pseudo 1354227 OR7E93P olfactory receptor, family 7, subfamily E, member 93 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79282 NG_002225,AC069047 GDB:11504207 OR7E131P pseudo 1350325 OR7E94P olfactory receptor, family 7, subfamily E, member 94 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79273 NG_002221,AC013662,AC092542 GDB:11507255 pseudo 1604141 OR7E96P olfactory receptor, family 7, subfamily E, member 96 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 401450 NG_004629,AC105233 GDB:11504193 pseudo 1352513 OR7E97P olfactory receptor, family 7, subfamily E, member 97 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79492 NG_002256,AF061779 GDB:11504195 pseudo 1351989 OR7E99P olfactory receptor, family 7, subfamily E, member 99 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 81419 NG_004262,AC011744 GDB:11504187 pseudo 1350658 OR7G1 olfactory receptor, family 7, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 125962 NM_001005192,AB065926,AC011464,AF399538,BK004267 NP_001005192,BAC06141,AAK95023,DAA04665,Q6IFJ5,Q8NGA0 Hs.553576 GDB:10795638 OR19-15|OR19-8|OR7G1P protein-coding 1345965 OR7G15P olfactory receptor, family 7, subfamily G, member 15 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403300 NG_004437,AC011464 pseudo 1348157 OR7G2 olfactory receptor, family 7, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390882 BK004268,CH471106,CS248316,NM_001005193,AB065927,AC011464,AF399539 DAA04666,EAW84007,CAJ56681,Q6IFJ4,Q8NG99,NP_001005193,BAC06142,AAK95024 Hs.553774 GDB:10795640 OR19-6|OST260 protein-coding 1345338 OR7G3 olfactory receptor, family 7, subfamily G, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390883 NM_001001958,AB065932,AC011464,AF399540,BK004266,CS248312 NP_001001958,BAC06147,AAK95025,DAA04664,CAJ56679,Q6IFJ6,Q8NG95 Hs.553775 GDB:10795641 OST085 protein-coding 1604686 OR7H1P olfactory receptor, family 7, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199 390886 NG_002205,AC006271 GDB:11504143 OR7H1 pseudo 1349931 OR7H2P olfactory receptor, family 7, subfamily H, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403301 NG_004438,AC113416 pseudo 1348532 OR7K1P olfactory receptor, family 7, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81114 NG_004167,AL132827 GDB:11507257 pseudo 1345471 OR7L1P olfactory receptor, family 7, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79499 NG_002258,AL109853 GDB:11507259 pseudo 1353731 OR7M1P olfactory receptor, family 7, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81352 NG_004250,AL161645 GDB:11507261 pseudo 1349349 OR8A1 olfactory receptor, family 8, subfamily A, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 390275 NM_001005194,AB065833,AF399512,AP000916,BK004495,CH471065,AY726592,BC137194,BC137197 NP_001005194,BAC06052,AAK94997,DAA04893,EAW67586,EAW67587,AAI37195,AAI37198,Q6IEW7,Q8NGG7 Hs.632104 GDB:10795643 OR11-318|OST025 protein-coding 1353251 OR8A2P olfactory receptor, family 8, subfamily A, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390273 NG_004341,AP000916 GDB:11507263 pseudo 1350816 OR8A3P olfactory receptor, family 8, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403302 NG_004439,AP000916 pseudo 1342881 OR8B10P olfactory receptor, family 8, subfamily B, member 10 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390274 NG_004342,AP000916 GDB:11504145 pseudo 1350337 OR8B12 olfactory receptor, family 8, subfamily B, member 12 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219858 NM_001005195,AB065834,AF399511,AP000916,BK004494,CH471065,CS248182,BC136863,BC136864 NP_001005195,BAC06053,AAK94996,DAA04892,EAW67585,CAJ56618,AAI36864,AAI36865,Q8NGG6 Hs.553634 GDB:11507265 OR11-317 protein-coding 1605114 OR8B1P olfactory receptor, family 8, subfamily B, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12213199,9787077 8582 NG_002156,AB065540 GDB:9955705 OR11-561|OR8B11P pseudo 1350735 OR8B2 olfactory receptor, family 8, subfamily B, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 26595 NM_001005468,AB065826,AB065829,AC002556,AF399508,AP001804,BK004203,BK004500,CH471065,CS248236 NP_001005468,BAC06045,BAC06048,AAK94993,DAA04601,DAA04898,EAW67580,CAJ56643,Q8NGG9,Q8NGH2,Q96RD0 Hs.576944 GDB:10795644 OR11-309|OR11-310 protein-coding 1354454 OR8B3 olfactory receptor, family 8, subfamily B, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390271 NM_001005467,AB065827,AB065830,AC002556,AP001804,BK004204,CH471065 NP_001005467,BAC06046,BAC06049,DAA04602,EAW67581,Q6IFQ8,Q8NGG8,Q8NGH1 Hs.690456 GDB:10795646 OR11-311 protein-coding 1342821 OR8B4 olfactory receptor, family 8, subfamily B, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 283162 NM_001005196,AB065831,AC002556,AF399509,AP000916,AP001804,BK004205,CH471065,CS248238,BC136865,BC136866 NP_001005196,BAC06050,AAK94994,DAA04603,EAW67582,CAJ56644,AAI36866,AAI36867,Q6IFQ7,Q96RC9 Hs.553671 GDB:10795648 OR11-315|OR8B4P protein-coding 1352095 OR8B5P olfactory receptor, family 8, subfamily B, member 5 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26592 NG_002204,AC002556 GDB:10795650 pseudo 1345960 OR8B6P olfactory receptor, family 8, subfamily B, member 6 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26591 NG_002203,AC002556 GDB:10795652 pseudo 1348989 OR8B7P olfactory receptor, family 8, subfamily B, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 26590 NG_002202,AC002556 GDB:10795654 OR8B13P pseudo 1347370 OR8B8 olfactory receptor, family 8, subfamily B, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349,1580863 9119360,14983052,12213199,11705801 633349 26493 NM_012378,AB065832,AF399510,BK004496,CH471065,AF238488,BC130393,BC130419,X89675 NP_036510,BAC06051,AAK94995,DAA04894,EAW67583,AAL32997,AAI30394,AAI30420,CAA61822,Q15620,Q6IEW6 Hs.351822 GDB:11508598 TPCR85 protein-coding 1345147 OR8B9P olfactory receptor, family 8, subfamily B, member 9 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10706615 79316 NG_002322,AF179764,AF179765 GDB:11504147 pseudo 1352903 OR8C1P olfactory receptor, family 8, subfamily C, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9787077,9500546 8580 NG_002154,AF065872,U86289 GDB:9955695 OR11-175|OR8C3P|OR8C4P|OR912-106|OR912-45 pseudo 1350153 OR8D1 olfactory receptor, family 8, subfamily D, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,11705801 283159 NM_001002917,AB065828,AC002556,AP001804,BK004501,CH471065,CS248232,AF238489,BC136950,BC136954 NP_001002917,BAC06047,DAA04899,EAW67578,CAJ56641,AAL32998,AAI36951,AAI36955,Q8NGH0,Q8WZ84 Hs.504211 GDB:10795656 JCG9|OR8D3|OST004|PDJ9J14 protein-coding 1354280 OR8D2 olfactory receptor, family 8, subfamily D, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,11705801 283160 NM_001002918,AC002556,AF162669,AP001804,BK004202,CH471065,AF162668,BC137043 NP_001002918,AAG43387,DAA04600,EAW67579,AAG43386,AAI37044,Q6IFR0,Q9GZM6 Hs.504212 GDB:10795657 JCG2 protein-coding 1319573 OR8D4 olfactory receptor, family 8, subfamily D, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 338662 NM_001005197,AB065761,AC019108,AP002407,BK004313,CH471065,CS248090 CAJ56572,Q6IFE9,Q8NGM9,NP_001005197,BAC05981,DAA04711,EAW67560 Hs.449688 GDB:11507269 OR11-275 protein-coding 1345538 OR8F1P olfactory receptor, family 8, subfamily F, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 390269 NG_004340,AP000818 GDB:11504149 pseudo 1346948 OR8G1 olfactory receptor, family 8, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349 9119360,14983052,12213199 633349 26494 NM_001002905,AB065946,AF399507,BK004423,CH471065,X89672 NP_001002905,BAC06159,AAK94992,DAA04821,EAW67576,CAA61819,Q15617,AAI40353,AAI46495 Hs.448172 HSTPCR25|OR8G1P|TPCR25 protein-coding 1353161 OR8G2 olfactory receptor, family 8, subfamily G, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 633349 9119360,14983052 633349 26492 NM_001007249,AB065943,AB065947,AB065948,AP002965,BK004424,BK004426,CH471065,X89669 BAC06157,NP_001007250,BAC06160,BAC06161,DAA04822,DAA04824,EAW67575,CAA61816,Q15614,Q6IF36,Q8N0Y1,Q8NG87 Hs.381319 GDB:11508599 HSTPCR120|OR8G2P|OR8G4|ORL206|ORL486|TPCR120 protein-coding 1342721 OR8G3P olfactory receptor, family 8, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 387815 NG_004312,AP002965 GDB:11504153 pseudo 1352593 OR8G5 olfactory receptor, family 8, subfamily G, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219865 NM_001005198,AB065958,AP002965,BK004516,CH471065,BC136820,BC136822 NP_001005198,BAC06171,DAA04914,EAW67577,AAI36821,AAI36823,Q8NG78 Hs.448172 OR11-298|OR8G5P|OR8G6 protein-coding 1345447 OR8G7P olfactory receptor, family 8, subfamily G, member 7 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282786 NG_004628,AP002965 GDB:11511052 pseudo 1348854 OR8H1 olfactory receptor, family 8, subfamily H, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219469 NM_001005199,AB065836,AC022882,BK004337,CH471076,CS248134,BC136910 NP_001005199,BAC06055,DAA04735,EAW73707,CAJ56594,AAI36911,Q8NGG4 Hs.553628 GDB:11507271 OR11-180 protein-coding 1346035 OR8H2 olfactory receptor, family 8, subfamily H, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390151 NM_001005200,AB065657,AB065845,AC068339,BK004341,CH471076,CS248362 NP_001005200,BAC05883,BAC06063,DAA04739,EAW73698,CAJ56701,Q8N162 Hs.553744 GDB:11507273 OR11-171 protein-coding 1348145 OR8H3 olfactory receptor, family 8, subfamily H, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390152 NM_001005201,AB065658,AB065840,AC068339,BK004345,CH471076,CS248364 NP_001005201,BAC05884,BAC06059,DAA04743,EAW73699,CAJ56702,Q8N146 Hs.553745 GDB:11507275 OR11-172 protein-coding 1350267 OR8I1P olfactory receptor, family 8, subfamily I, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79498 NG_004147,AC022882 GDB:11507277 pseudo 1352416 OR8I2 olfactory receptor, family 8, subfamily I, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 120586 NM_001003750,AB065656,AB065844,AC068339,AF399513,BK004342,CH471076,CS248360,BC137007 NP_001003750,BAC05882,BAC06062,AAK94998,DAA04740,EAW73697,CAJ56700,AAI37008,Q8N0Y5 Hs.554524 GDB:11507279 OR11-170 protein-coding 1353612 OR8I4P olfactory receptor, family 8, subfamily I, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403303 NG_004635,AC068339 pseudo 1348514 OR8J1 olfactory receptor, family 8, subfamily J, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219477 NM_001005205,AB065748,AF399515,AP002512,BK004340,CH471076,CS248136,BC137067 NP_001005205,BAC05968,AAK95000,DAA04738,EAW73710,CAJ56595,AAI37068,Q8NGP2 Hs.626841 GDB:11507281 OR11-183 protein-coding 1346057 OR8J2P olfactory receptor, family 8, subfamily J, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81169 NG_004185,AC022882 GDB:11507283 pseudo 1342544 OR8J3 olfactory receptor, family 8, subfamily J, member 3 1580863 14983052,12213199 81168 NM_001004064,AB065841,AF399516,AP003034,BK004346,CH471076 NP_001004064,BAC06060,AAK95001,DAA04744,EAW73701,Q6IFB6,Q8NGG0 Hs.554523 GDB:11507285 OR11-173 protein-coding 1347124 OR8K1 olfactory receptor, family 8, subfamily K, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 390157 CS248130,NM_001002907,AB065835,AC022882,AF399517,BK004339,CH471076 CAJ56592,Q8NGG5,NP_001002907,BAC06054,AAK95002,DAA04737,EAW73709 Hs.553748 GDB:11507287 OR11-182|OR8N1P protein-coding 1346153 OR8K2P olfactory receptor, family 8, subfamily K, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79494 NG_004146,AC022882 GDB:11507289 pseudo 1342730 OR8K3 olfactory receptor, family 8, subfamily K, member 3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219473 NM_001005202,AB065541,AC022882,BK004338,CH471076,CS248132 NP_001005202,BAC05786,DAA04736,EAW73708,CAJ56593,Q8NH51 Hs.553629 GDB:11507291 OR11-181 protein-coding 1342981 OR8K4P olfactory receptor, family 8, subfamily K, member 4 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81166 NG_004184,AP003034 GDB:11507293 pseudo 1351237 OR8K5 olfactory receptor, family 8, subfamily K, member 5 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 219453 NM_001004058,AB065542,AP003034,BK004347,CH471076,CS248366,CS248600 NP_001004058,BAC05787,DAA04745,EAW73702,CAJ56703,CAJ56816,Q6IFB5,Q8NH50 Hs.553626 GDB:11507295 OR11-174 protein-coding 1348371 OR8L1P olfactory receptor, family 8, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 81164 NG_004183,AP002512,BK004720 GDB:11507297 OR11-115 pseudo 1343193 OR8Q1P olfactory receptor, family 8, subfamily Q, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81163 NG_004182,AP000916 GDB:11507301 pseudo 1605614 OR8R1P olfactory receptor, family 8, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81162 NG_004181,AP002761 GDB:11507303 pseudo 1351418 OR8S1 olfactory receptor, family 8, subfamily S, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 341568 NM_001005203,AB065604,AC089987 NP_001005203,BAC05832,Q8NH09 Hs.524373 GDB:11511054 protein-coding 1349416 OR8S21P olfactory receptor, family 8, subfamily S, member 21 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403304 NG_005823,AC090115 pseudo 1352267 OR8T1P olfactory receptor, family 8, subfamily T, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282791 NG_004301,AC090115 GDB:11511056 pseudo 1353375 OR8U1 olfactory receptor, family 8, subfamily U, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 219417 NM_001005204,AB065603,AP002512,CH471076 NP_001005204,BAC05831,EAW73700,Q8NH10 Hs.553618 GDB:11511058 protein-coding 1601900 OR8U8 olfactory receptor, family 8, subfamily U, member 8 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504189 NM_001013356,AADD01115766,CH471076 NP_001013374,EAW73711,AAI48575,AAI53151 Hs.553618 protein-coding 1601899 OR8U9 olfactory receptor, family 8, subfamily U, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504190 NM_001013357,AADD01115766,CH471076 NP_001013375,EAW73712 protein-coding 1344141 OR8V1P olfactory receptor, family 8, subfamily V, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 282776 NG_004299,AC022882,AP003034 GDB:11511060 OR11-267 pseudo 1343242 OR8X1P olfactory receptor, family 8, subfamily X, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403305 NG_004440,AP001804 pseudo 1348783 OR9A1P olfactory receptor, family 9, subfamily A, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1370859 26495 AB065690,NG_002195,AC011654,CH236950,X64982 Hs.544835 GDB:11504331 HSHTPCRX06|HTPCRX06|OR9A1|OR9A5P olfactory receptor, family 9, subfamily a, member 1, pseudogene pseudo 1348029 OR9A2 olfactory receptor, family 9, subfamily A, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12908129,12732197 135924 NM_001001658,AB065696,AB065874,AC099652,AY284261,BK004391,CH236959,CH471198 NP_001001658,BAC05919,BAC06092,DAA04789,EAL23779,EAW51890,Q8NGT5 Hs.553594 GDB:11507305 protein-coding 1343778 OR9A3P olfactory receptor, family 9, subfamily A, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12853948,12213199 392106 NG_004372,AC073647,AF399476,CH236950 GDB:11507307 OR9A6P pseudo 1352661 OR9A4 olfactory receptor, family 9, subfamily A, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12690205 130075 NM_001001656,AB065689,AC073647,BK004278,CH236950,CH471070,CS248584 NP_001001656,BAC05912,DAA04676,EAL24013,EAW83990,CAJ56808,Q6IFI4,Q8NGU2 Hs.690171 GDB:11507309 protein-coding 1342549 OR9G1 olfactory receptor, family 9, subfamily G, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052 390174 NM_001005213,AB065500,AP004245,BK004511,CH471076 NP_001005213,BAC05750,DAA04909,EAW73722,Q6IEV1,Q8NH87,AAI46362 Hs.553752 GDB:11507311 OR9G5 protein-coding 1346262 OR9G2P olfactory receptor, family 9, subfamily G, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81160 NG_004180,AP001803 GDB:11507313 OR9G6 pseudo 1344100 OR9G3P olfactory receptor, family 9, subfamily G, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81159 NG_004179,AP001803 GDB:11507315 pseudo 1349445 OR9G4 olfactory receptor, family 9, subfamily G, member 4 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052,12213199 283189 AP001803,BK004400,CH471076,NM_001005284,AB065738,AF399530 AAK95015,DAA04798,EAW73725,Q6IF62,Q8NGQ1,NP_001005284,BAC05959 Hs.554521 GDB:11507317 OR11-216 protein-coding 1601898 OR9G9 olfactory receptor, family 9, subfamily G, member 9 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 504191 NM_001013358,CH471076,AADD01115779 EAW73723,NP_001013376 Hs.553752 protein-coding 1350629 OR9H1P olfactory receptor, family 9, subfamily H, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12975309 81439 NG_004269,AL450999,AY358215 Hs.446996 GDB:11507321 UNQ9373 pseudo 1345505 OR9I1 olfactory receptor, family 9, subfamily I, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 14983052,12213199 219954 NM_001005211,AB065733,AF399531,AP004247,BK004292,CH471076,CS248104 NP_001005211,BAC05954,AAK95016,DAA04690,EAW73796,CAJ56579,Q6IFH0,Q8NGQ6 Hs.632122 GDB:11507323 OR11-228 protein-coding 1347420 OR9I2P olfactory receptor, family 9, subfamily I, member 2 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 10706615 81156 NG_002279,AF179762,AP004247 GDB:11504151 pseudo 1348710 OR9I3P olfactory receptor, family 9, subfamily I, member 3 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81155 NG_004178,AP004247 GDB:11507325 OST714 pseudo 1353472 OR9K1P olfactory receptor, family 9, subfamily K, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 121360 NG_004285,AB065863,AC027287,BK004576 GDB:11507327 OR12-4 pseudo 1345121 OR9K2 olfactory receptor, family 9, subfamily K, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 14983052 441639 NM_001005243,AB065862,AC027287,BK004326 NP_001005243,BAC06080,DAA04724,Q6IFD6,Q8NGE7 Hs.553827 GDB:11507329 OR12-2 protein-coding 1607004 OR9L1P olfactory receptor, family 9, subfamily L, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 79301 NG_002233,AP004247 GDB:11507331 OR9L2P pseudo 1353131 OR9M1P olfactory receptor, family 9, subfamily M, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81153 NG_004177,AB065784,AC036111 GDB:11507335 OR5BG1P pseudo 1352278 OR9N1P olfactory receptor, family 9, subfamily N, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 12853948 81383 NG_004258,AC073647,CH236950 GDB:11507337 pseudo 1348578 OR9P1P olfactory receptor, family 9, subfamily P, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 9847074 81382 NG_004257,AC099652,CH236959 GDB:11507339 OR9P2P pseudo 1349735 OR9Q1 olfactory receptor, family 9, subfamily Q, member 1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 1580863 15489334,12477932,12213199 219956 NM_001005212,AB065734,AF399532,AP003401,AP003484,AP004247,CH471076,BC110819 NP_001005212,BAC05955,AAK95017,EAW73797,AAI10820,Q8NGQ5 Hs.689841 GDB:11507341 MGC131737 protein-coding 1351092 OR9Q2 olfactory receptor, family 9, subfamily Q, member 2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 219957 NM_001005283,AB065859,AP004247,AX646375,CH471076 NP_001005283,BAC06077,CAD69316,EAW73798,Q8NGE9 Hs.553643 OR9Q2P protein-coding 1344431 OR9R1P olfactory receptor, family 9, subfamily R, member 1 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 81140 NG_004176,AC027287 GDB:11507345 pseudo 1347898 OR9S24P olfactory receptor, family 9, subfamily S, member 24 pseudogene Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. 403275 NG_005821,AC013469 OR5J6P pseudo 1606201 ORAI1 ORAI calcium release-activated calcium modulator 1 CRACM1 is a plasma membrane protein essential for store-operated calcium entry (Vig et al., 2006 [PubMed 16645049]).[supplied by OMIM] 16645049,16733527,16766533,16807233,18250319,18190941,18187424,18006576,17991693,17968026,17702753,17684017,17452328,17442569,17400243,17360584,17224452,17218358,17045966,16978865,16921383,16582901,16147976,15489334,14702039,12477932 84876 NM_032790,NG_007500,AC140062,CH471054,AK027372,BC013386,BC015369,BC075831,BC104633,BG574128,BG775018,BM762473,BM847154,CR616901,CR618487,CR622003 NP_116179,EAW98269,EAW98270,BAB55068,AAH13386,AAH15369,AAH75831,AAI04634,Q96D31 Hs.55148 CRACM1|FLJ14466|ORAT1|TMEM142A protein-coding 1320982 ORAI2 ORAI calcium release-activated calcium modulator 2 17452328,16807233,16582901,16344560,15498874,15489334,14702039,12853948,12477932,9847074 80228 NM_032831,NM_001126340,AC093668,CH471197,AF258552,AK022536,AK027639,AK056497,AK128753,BC009183,BC016797,BC069270,CR457287,DA770788,Y10777 NP_116220,NP_001119812,AAP22351,AAP22352,EAW50244,EAW50245,EAW50246,EAW50247,EAW50248,AAG23755,BAB14085,BAB55256,BAC87598,AAH69270,CAG33568,Q96SN7,Q9H9Y3 Hs.363308,Hs.658598,Hs.680539 C7orf19|CBCIP2|FLJ12474|FLJ14733|FLJ44818|TMEM142B chromosome 7 open reading frame 19 protein-coding 1602192 ORAI3 ORAI calcium release-activated calcium modulator 3 17991693,17452328,16582901,15489334,12477932 93129 NM_152288,AC135048,CH471192,BC006126,BC015555,BC016150,BC022786 NP_689501,EAW52185,EAW52186,AAH06126,AAH15555,AAH22786,Q9BRQ5 Hs.460617 MGC13024|TMEM142C protein-coding 1312190 ORAOV1 oral cancer overexpressed 1 17005439,15489334,12477932,12172009 220064 NM_153451,AP001888,CH471076,AF503940,AK026600,AK125280,AK126490,BC006448,BC019024,BC065542,EF639695 NP_703152,EAW74749,EAW74750,AAM97902,AAH19024,AAH65542,ABR37294,Q8WV07 Hs.523854 GDB:11507347 TAOS1 protein-coding 1350406 ORC1L origin recognition complex, subunit 1-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. 1580863 7502077,11931757,15232106,12791985,10436018,11095689,11125146,12045100,15226314,15684404,15707391,17081983,17066079,16710414,15454574,12912926,12909627,12909626,12614612,12477932,11809796,11779870,11716535,11323433,10954718,10681582,10523313,10438470,9566895,8943353,8884289,16189514 4998 NM_004153,AL513218,CH471059,AK291909,BC011539,CR594568,CR619175,U40152,U43416 NP_004144,CAI12288,EAX06783,EAX06784,BAF84598,AAH11539,AAC50325,AAA86260,Q13415,Q96F82 Hs.17908 GDB:5592232 HSORC1|ORC1|PARC1 protein-coding 1323514 ORC2L origin recognition complex, subunit 2-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3L, -4L, and -5L. It also interacts with CDC45L and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. 1580863 8808289,11095689,12791985,10436018,11125146,11931757,12045100,15226314,15684404,15707391,16762929,16407251,15910003,15489334,15232106,12912926,12897055,12614612,12477932,12364596,12393188,11779870,11602595,11509178,11395502,11323433,10954718,10835370,10523313,10402192,9765232,9733749,9660782,9353276,7502077,16189514 4999 NM_006190,AC005037,AY652588,CH471063,BC014834,BM470184,CA448165,CR596826,U27459,U40268 NP_006181,AAY14725,AAT46690,EAW70228,EAW70229,AAH14834,AAB33970,AAC50326,Q13416,Q53TX5,ABM85709 Hs.444870 GDB:641988 ORC2 protein-coding 1318236 ORC3L origin recognition complex, subunit 3-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. 1580863 10402192,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,15910003,15489334,14702039,12614612,12477932,11395502,11323433,11230166,10954718,10702681,9373149,8125298,12791985,9829972,15232106,17525332 23595 BC035494,BC047689,BF215571,CR456814,CR608982,CR618350,CR619723,U50950,NM_181837,NM_012381,AL133211,AL451126,AY623113,CH471051,AF093535,AF125507,AF135044,AK094135,AK222795,AL080116 AAH35494,AAH47689,CAG33095,CAB45715,AAA96313,Q6IBJ0,Q9UBD5,ABZ92519,NP_862820,NP_036513,CAI21539,CAI10900,CAM13063,AAT38109,EAW48581,EAW48582,EAW48583,AAD40220,AAD18057,AAD30282,BAD96515 Hs.410228 GDB:9958665 LAT|LATHEO|ORC3 protein-coding 1343496 ORC4L origin recognition complex, subunit 4-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown to form a core complex with ORC2L, -3L, and -5L. Three alternatively spliced transcript variants encoding the same protein have been reported. 1580863 9353276,15232106,12791985,10436018,11095689,15226314,15684404,15707391,15910003,15489334,14702039,12614612,12477932,11483529,11395502,11323433,10954718,10523313,10460412,9829972,9691185,9373149,8125298,16189514,11125146,11931757,12045100 5000 NM_181742,NM_002552,NM_181741,AC009480,AC019226,AY600302,CH471058,AF022108,AF047598,AF132596,AK055257,AK225092,AK291989,AV708885,BC005388,BC014847,BC016177,BI603609,BM468640,BM926755,CR590590,CR593105,CR599779 NP_859526,NP_002543,NP_859525,AAX93051,AAY24232,AAS94326,EAX11555,EAX11556,EAX11557,EAX11558,EAX11559,EAX11560,AAC01957,AAC80282,AAD22110,BAF84678,AAH14847,AAH16177,O43929,Q53SE3,Q53TH5,Q96B14,Q9BS20,ABZ92520 Hs.558364 GDB:9863223 ORC4|ORC4P protein-coding 1320971 ORC5L origin recognition complex, subunit 5-like (yeast) The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown to form a core complex with ORC2L, -3L, and 4L. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 9765232,15232106,12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,15489334,12853948,12690205,12614612,12477932,11395502,11379876,11323433,10954718,10523313,9829972,9417919,9373149,9038340,8125298 5001 NM_181747,AC002067,AC007393,CH236947,CH471070,AF047599,AF049127,AF081459,AK223361,AK292285,BC023652,NM_002553,BF678849,CR608840,CR614443,U92538 NP_002544,NP_859531,AAM49152,AAF19238,EAL24408,EAL24409,EAW83341,EAW83342,EAW83343,AAC80283,AAC63972,AAC64401,BAD97081,BAF84974,AAH23652,AAC51933,O43913,O95268,Q53FC8,Q8NDU9,Q9UDM8,ABM83200,ABM86401 Hs.432948 GDB:9834652 ORC5|ORC5P|ORC5T protein-coding 1322900 ORC6L origin recognition complex, subunit 6 like (yeast) The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. It has been shown that this protein and and ORC1L are loosely associated with the core complex consisting of ORC2L, -3L, -4L and -5L. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. 1580863 15232106,12791985,10436018,11095689,11125146,11931757,12045100,15226314,15684404,15707391,17081983,16381901,15910003,15489336,15489334,14702039,12614612,12477932,12169736,11593009,11323433,11076863,10945994,10523313,8266075 23594 NM_014321,AC007225,CH471092,AF139658,AK021946,AK024019,AK024077,BC039032,BC050725,BC063565,CR604421,CR619046 NP_055136,EAW82685,EAW82686,AAD32666,BAB14817,AAH39032,AAH63565,Q0JS45,Q9H806,Q9Y5N6,CAL37524,CAL37788,CAL38556 Hs.49760 GDB:11507349 ORC6 origin recognition complex, subunit 6 homolog-like (yeast) protein-coding 1351569 ORM1 orosomucoid 1 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. 1580863 16272158,2822385,3360326,14718574,18273814,17987628,17944232,17675532,17321687,17048007,16740002,16335952,16290938,16261636,15489334,15253437,15111541,15084671,15013397,14760718,12754519,12576428,11027547,9380773,9050929,8432561,8076819,6809283,4711474,4603214,4561179,3795040,3770479,3463531,2970990,2541064,2479939,2409529,1567356,7795416,12480518,12477932,12112335,11925509,11911961,11814462,11418606,11336643 5004 AAB33887 NM_000607,AB014887,AL356796,CH471090,X05779,BC007032,BC026238,BC104818,BC104820,BI908589,BT019790,CR607356,M13692,N68733,X02544 NP_000598,BAA34292,CAI16859,EAW87416,CAA29229,AAH26238,AAI04819,AAI04821,AAV38593,AAA35515,CAA26397,AAB33887,P02763,Q5T539,Q5U067 Hs.567311 GDB:120250 AGP-A|AGP1|ORM protein-coding 737236 ORM2 orosomucoid 2 This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. 1580863 2970990,17987628,17048007,16335952,16331959,16290938,15863355,15489334,15253437,15084671,14760718,12528117,12480518,12477932,11752456,11587070,4711474,4603214,3679210,3631077,2822385,1567356,11336643,7795416 5005 NM_000608,AL356796,CH471090,M21540,X06674,X06675,X06676,X06677,X06678,X06679,X06680,AV661485,BC015964,BC056239,CR456930 NP_000599,CAI16860,EAW87417,AAA51549,CAA29873,CAA29874,AAH15964,AAH56239,CAG33211,P19652,Q5T538,Q6IB74 Hs.522356 GDB:120251 AGP-B|AGP-B'|AGP2 protein-coding 1347149 ORMDL1 ORM1-like 1 (S. cerevisiae) 1580863 12093374,17928364,16303743,12477932,11042152 94101 NM_016467,AC013468,AF395702,CH471058,CQ782688,CQ783848,CS185551,AB064959,AB064960,AF151036,AF395704,AK074756,AK075160,BC005200,CR602229,CR936635 NP_057551,AAY14772,AAM43502,EAX10887,EAX10888,EAX10889,CAF85924,CAF86890,CAJ42732,BAC11710,BAC11711,AAF36122,AAM43503,BAC11184,BAC11441,AAH05200,CAI56776,Q9P0S3 Hs.700632 GDB:11500956 DKFZp686G141 protein-coding 1313791 ORMDL2 ORM1-like 2 (S. cerevisiae) 15489334,12477932,12093374,11042152,9373149,8125298 29095 NM_014182,AC023055,CH471054,AB064961,AF161509,AF173375,AF395705,AF395706,AF395707,AK223180,AW339474,BC012543,BG750383,CR621685 NP_054901,EAW96840,BAC11712,AAF29124,AAQ13618,AAM43504,AAM43505,AAM43506,BAD96900,AAH12543,Q53FV1 Hs.505676,Hs.534450 GDB:11500957 HSPC160|MST095|MSTP095|adoplin-2 protein-coding 1352369 ORMDL3 ORM1-like 3 (S. cerevisiae) 1580863 18395550,18310477,18155279,17611496,16303743,15489334,14702039,12477932,12093374,11042152 94103 NM_139280,AC090844,CH471152,CQ782744,CQ783311,CS300504,AF151043,AF373101,AF373102,AF395708,AK074811,AK075212,AK093063,AY357943,BC000638,BC017087,BC018837,BC050710,BC054042,BC071833,CR620858 NP_644809,EAW60616,EAW60617,EAW60618,EAW60619,EAW60620,CAF85976,CAF86524,CAK32168,AAF36129,AAN76521,AAN76522,AAM43507,BAC11223,BAC11476,AAQ57273,AAH17087,AAH71833,Q8N138,Q9P0R7 Hs.514151 GDB:11500958 protein-coding 1605693 OS9 amplified in osteosarcoma This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 8634085,18264092,17932042,16344560,15231748,12747754,12477932,12093806,12077121,10403379,9562620,9498564,9192850,15721254 10956 NM_006812,NM_001017956,NM_001017958,NM_001017957,AB002805,AC025165,CH471054,U81031,AB002806,AK129781,AK130733,AK291374,AL137691,AU132426,BC000532,BC006506,BC007254,BC023513,BQ954079,CR456791,CR593783,CR594965,CR600830,CR604702,CR610698,CR613922,CR616277,CR621694,U41635 NP_006803,NP_001017956,NP_001017958,NP_001017957,BAA24362,EAW97044,EAW97045,EAW97046,EAW97047,AAC39523,BAA24363,BAF84063,AAH00532,AAH06506,AAH07254,AAH23513,CAG33072,AAB06495,Q13438,Q6IBL2,Q9BR60,Q9BW99,ABM83685,ABM86982 Hs.708008 GDB:9958646 protein-coding 1603194 OSAP ovary-specific acidic protein 12477932 84709 NM_032623,AC024032,CH471056,AF329088,AF484960,BC037987,BC104173,BC104174,CR620620 NP_116012,EAX05122,AAG59896,AAM09685,AAI04174,AAI04175,Q8TDB4,Q9BZC3 Hs.710036 MGC125827|MGC125828 protein-coding 1317627 OSBP oxysterol binding protein Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase 1580863 1730758,1970801,18165705,17081983,16571669,15746430,15489334,15302935,12477932,12023275,11735225,11278871,10588946 5007 NM_002556,AF185697,AF185698,AF185699,AF185700,AF185701,AF185702,AF185703,AF185704,AF185705,AP000442,CH471076,AF185696,BC011581,BC017975,BC051350,BC063121,CR592861,CR609894,CR624389,M86917 NP_002547,AAG28373,EAW73849,AAG17011,AAH11581,AAH63121,AAA59973,P22059,Q6P524 Hs.705377 GDB:120252 OSBP1 protein-coding 1321446 OSBP2 oxysterol binding protein 2 Oxysterols are byproducts of cholesterol that can have cytotoxic effects on many cell types. The membrane-bound protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternate transcriptional splice variants have been observed but have not been fully characterized. 1580863 18294060,17350617,14702039,12964051,12477932,11802775,11735225,11483621,11278871,11258795,10591208 23762 AC004542,AF288742,AL022336,AL079299,CH471095,AB051451,AF288741,AF323731,AK093196,AK097581,AK131374,BC004340,BC118914,NM_030758,CR613311,CR625576 NP_110385,AAC12953,AAK56865,EAW59916,EAW59917,EAW59918,EAW59919,BAB33334,AAK56864,AAG53406,BAC04091,BAD18525,AAI18915,Q0VF99,Q5THY6,Q6ZN50,Q8NA37,Q969R2 Hs.517546 GDB:10795321 ORP-4|ORP4|OSBPL1|OSBPL4 protein-coding 1350183 OSBPL10 oxysterol binding protein-like 10 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. 1580863 16806233,15489334,12477932,11735225,11483621 114884 NM_017784,AC092024,AC107620,AC108485,CH471055,AB209872,AF346291,AF392451,AK000370,AK024945,AL389943,AL833247,BC003168,CR604343 NP_060254,EAW64417,EAW64418,BAD93109,AAK31140,AAL40664,BAA91118,AAH03168,Q59ED9,Q9BXB5,Q9NX98 Hs.150122 GDB:11508433 FLJ20363|ORP10|OSBP9 protein-coding 1316402 OSBPL11 oxysterol binding protein-like 11 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. 1580863 17081983,16964243,15489334,15302935,14702039,12477932,11735225,11483621,9110174,8619474 114885 AK023226,AK292702,AY007102,BC010422,BC065213,CR613218,NM_022776,AC016959,CH471052,AF318344,AF346292,AF392454,AK023074 BAB14391,BAB14477,BAF85391,AAH10422,AAH65213,Q8WYV5,Q9BXB4,Q9GZM0,NP_073613,EAW79389,AAL55851,AAK31141,AAL40667 Hs.477440 GDB:11508519 FLJ13012|FLJ13164|ORP-11|ORP11|OSBP12|TCCCIA00292 protein-coding 731675 OSBPL1A oxysterol binding protein-like 1A This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. 1580863 11279184,10588946,17081983,16176980,14702039,12631712,12477932,11735225,11483621 114876 NM_080597,NM_018030,AC023983,AC090772,CH471088,AF274714,AF323726,AF392449,AF392450,AK001079,AK021898,AK096358,AK292895,BC007004,BC041563,BC063420,BC073854,BC098384,BX647893,BC022293 NP_542164,NP_060500,EAX01180,EAX01181,EAX01182,EAX01183,AAK15154,AAG53407,AAL40662,AAL40663,BAA91496,BAF85584,AAH07004,AAH41563,AAH63420,AAH73854,AAH98384,Q6DKJ0,Q6GSK5,Q8IVZ3,Q96IZ3,Q9BXW6 Hs.370725 GDB:11500961 FLJ10217|ORP-1|ORP1|OSBPL1B protein-coding 1322699 OSBPL2 oxysterol binding protein-like 2 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. 1580863 15489334,12477932,11861666,11780052,11735225,11483621,11279184,10588946,9872452 9885 NM_144498,NM_014835,AL354836,CH471077,AB018315,AF331963,AF392447,AK000230,AK124174,AK291851,AY028168,BC000296,BC004455,BC018812,CR456722,CR594910,CR622829 NP_653081,NP_055650,CAC22306,CAC22307,CAC29153,EAW75377,EAW75378,EAW75379,BAA34492,AAG53416,AAL40660,BAC85795,BAF84540,AAK18044,AAH00296,AAH04455,CAG33003,Q6IBT0,Q6ZVR6,Q9BZ16,Q9H1P3,ABM82322,ABM85501 Hs.473254 GDB:9958344 FLJ20223|KIAA0772|MGC4307|MGC8342|ORP-2|ORP2 protein-coding 1350234 OSBPL3 oxysterol binding protein-like 3 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Several transcript variants encoding different isoforms have been identified. 1580863 17353931,16143324,15489334,15324660,14593528,12853948,12690205,12590732,12477932,11735225,11568019,11483621,10588946,9847074,9734811,15778465 26031 NM_145320,NM_145321,NM_015550,AC003093,AC004008,AC004016,AC004239,CH236948,NM_145322,CH471073,AB014604,AF323727,AF392444,AF491781,AF491782,AF491783,AF491784,AF491785,AF491786,AF515639,AF515640,AL832293,AY008372,BC017731 NP_663162,NP_663160,NP_663161,NP_056365,AAB83939,AAC26986,EAL24240,EAL24241,EAL24242,EAL24243,EAL24244,EAL24245,EAW93818,EAW93819,EAW93820,EAW93821,BAA31679,AAG53408,AAL40657,AAM27386,AAM27387,AAM27388,AAM27389,AAM27390,AAM27391,AAM74165,AAM74166,AAG23400,AAH17731,Q9H4L5 Hs.520259 GDB:11500964 DKFZp667P1518|KIAA0704|MGC21526|ORP-3|ORP3|OSBP3 protein-coding 1318150 OSBPL5 oxysterol binding protein-like 5 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. 1580863 10588946,17081983,16806233,16381901,15489336,15489334,14702039,12504849,12477932,11735225,11483621,11230166,11076863,10819331 114879 NM_020896,NM_145638,AC108448,CH471158,AB074006,AF331964,AF392453,AF410430,AK055617,AK056510,AK124919,AK293000,AL136918,BC017505,BC032646,BC039579,CR593884,CR598808,CR617583,CR619585 NP_065947,NP_663613,EAX02542,EAX02543,BAB85686,AAG53417,AAL40666,AAK98617,BAF85689,CAB66852,AAH17505,AAH32646,AAH39579,Q0JUP2,Q54A90,Q8N596,Q8WVV2,Q9H0X9,CAL37769,CAL38302 Hs.436166 GDB:11508434 FLJ42929|OBPH1|ORP5 protein-coding 1318914 OSBPL6 oxysterol binding protein-like 6 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. 1580863 14702039,14593528,12477932,11735225,11483621,10588946 114880 NM_032523,NM_145739,AC009948,AC011238,AC011743,CH471058,AB208898,AF323728,AF392448,AF462443,AK025168,AK027600,AK093902,BC021248,BC052259 NP_115912,NP_665682,AAX88881,AAY15090,EAX11039,EAX11040,EAX11041,EAX11042,EAX11043,BAD92135,AAG53409,AAL40661,AAP97711,BAB55223,BAC04248,AAH21248,AAH52259,Q4ZG68,Q53T68,Q59H61,Q6PJ70,Q86V84,Q8N9T0,Q9BZF3 Hs.318775 GDB:11508436 FLJ36583|MGC59642|ORP6 protein-coding 1319316 OSBPL7 oxysterol binding protein-like 7 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. 1580863 15489334,14593528,12477932,11735225,11483621,8889548 114881 AC003665,CH471109,AB208886,AF323729,AF392446,AI955239,AK289523,BC028010,BC065482,BM674891,NM_145798 NP_665741,EAW94800,EAW94801,EAW94802,EAW94803,BAD92123,AAG53410,AAL40659,BAF82212,AAH28010,AAH65482,Q59H73,Q6PIV6,Q8WXP9,Q9BZF2,Q9NXG8 Hs.463320 GDB:11508438 MGC71150|ORP7 protein-coding 1348483 OSBPL8 oxysterol binding protein-like 8 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene. 1580863 17672918,17081983,16806233,15489334,14702039,12477932,12168954,11735225,11483621,10819331 114882 BC101529,BC111728,BX647211,CR749542,NM_001003712,NM_020841,AC117491,AC122687,AC124943,CH471054,AB040884,AF173895,AF323730,AF392452,AK055835,AK092160,AK172813,AK289997,AL049923,AL832876,BC012935,BC082235,BC093834 AAI01530,AAI11729,CAI46050,CAH18345,Q5HYM3,Q641R2,Q68D75,Q6ZME5,Q7Z2S4,Q96E43,Q96N80,Q9BZF1,NP_001003712,NP_065892,EAW97324,EAW97325,EAW97326,EAW97327,BAA95975,AAQ13642,AAG53411,AAL40665,BAB71026,BAD18783,BAF82686,AAH12935,AAH82235,AAH93834 Hs.430849 GDB:11508440 DKFZp686A11164|MGC126578|MGC133203|MST120|MSTP120|ORP8|OSBP10 protein-coding 1323003 OSBPL9 oxysterol binding protein-like 9 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Multiple transcript variants, most of which encode distinct isoforms, have been identified. 1580863 16962287,14702039,12477932,11735225,11483621 114883 NM_024586,NM_148908,NM_148906,NM_148904,NM_148905,NM_148907,AL050343,AL772260,AL831767,CH471059,NM_148909,AB208851,AF392445,AK022554,AK027535,AK027707,AK056617,AK074392,AK091703,AK124037,AK128043,AY178997,BC006160,BC025978,BQ230093,CR457288,CR607539,CR609523 NP_683707,NP_078862,NP_683706,NP_683704,NP_683702,NP_683703,NP_683705,CAI22221,EAX06810,EAX06811,EAX06812,EAX06813,EAX06814,EAX06815,EAX06816,EAX06817,EAX06818,EAX06819,BAD92088,AAL40658,BAB14096,BAB55184,BAB55312,BAC03727,AAO20108,AAH06160,AAH25978,CAG33569,Q59HA8,Q5SPW4,Q5TFC0,Q5VSM3,Q5VSM6,Q6IA67,Q86YQ3,Q8NB17,Q8TAS8,Q96SK4,Q96SU4,Q9BRN2 Hs.21938 GDB:11508442 FLJ12492|FLJ14629|FLJ14801|FLJ32055|FLJ34384|MGC15035|ORP9 protein-coding 1603587 OSCAR osteoclast associated, immunoglobulin-like receptor Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex (LRC) protein family that plays critical roles in the regulation of both innate and adaptive immune responses. Different from the other LRC members, OSCAR expression is detected specifically in preosteoclasts or mature osteoclasts. OSCAR may be an important bone-specific regulator of osteoclast differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. 16493074,16109714,16007331,15905516,15650060,15155468,14702039,12477932,11805147,1185147 126014 NM_133168,NM_133169,NM_206818,NM_130771,AC012314,CH471135,AF251702,AF391162,AF391163,AF391164,AF474152,AF474153,AK091111,AK130199,BC035023,BG722509,CR613625 NP_573398,NP_573399,NP_996554,NP_570127,EAW72174,EAW72175,EAW72176,EAW72177,EAW72178,AAM19095,AAL68495,AAL68496,AAL68497,AAQ05766,AAQ05767,BAC03586,AAH35023,Q8IYS5,ABM84623,ABM85659 Hs.347655 MGC33613|PIGR3 osteoclast-associated receptor protein-coding 1318432 OSGEP O-sialoglycoprotein endopeptidase 1580863 17353931,15489334,14702039,12477932,12039036,11641609,11418125,10859271,9110174,9092683,8619474,16189514 55644 CR597694,CR610109,CR614622,CR624248,AB050442,AF052137,AJ271669,AK000418,AK054823,AK055492,BC032310,BX428958,CR457232,CR594397,NM_017807,AB047823,AL355075,CH471078 Q9NPF4,ABM85732,BAB33172,CAB71031,BAA91150,AAH32310,CAG33513,ABW03728,EAW66470,NP_060277,BAB33147,EAW66469 Hs.525196 GDB:11507351 FLJ20411|GCPL1|KAE1|OSGEP1|PRSMG1 protein-coding 1313685 OSGEPL1 O-sialoglycoprotein endopeptidase-like 1 1580863 14702039,12477932 64172 NM_022353,AC013468,CH471058,AJ295148,AK055441,BC011904 ABM83973,ABM87290,NP_071748,AAY14771,EAX10890,EAX10891,CAC14666,BAB70923,AAH11904,Q9H4B0 Hs.60772 protein-coding 1607033 OSGIN1 oxidative stress induced growth inhibitor 1 11459809,16924236,15569677,15489334,14570898,12477932,8889548 29948 BC113417,BM976366,NM_013370,NM_182980,NM_182981,AC040169,AF334780,CH471114,AF191740,AK290383,AY037158,AY258066,AY258067,AY258068,BC020434,BC032476,BC093687 AAH93687,AAI13418,Q52M33,Q9UJX0,NP_037502,NP_892025,NP_892026,AAK01722,EAW95511,EAW95512,AAF06662,BAF83072,AAK67637,AAP14662,AAP14663,AAP14664,AAH32476 Hs.128055 BDGI|OKL38 protein-coding 1314879 OSGIN2 oxidative stress induced growth inhibitor family member 2 9933573,16341674,15489334,12477932,8889548 734 NM_004337,NM_001126111,AF069291,AF117829,CH471060,AF061326,BC031054,BM764021,BU688773 NP_004328,NP_001119583,AAC62231,EAW91657,EAW91658,EAW91659,AAD18134,AAH31054,Q9Y236,AAI56590 Hs.436445 GDB:9864250 C8orf1|hT41 chromosome 8 open reading frame 1 protein-coding 1344213 OSIL oxidative stress induced like 1580863 8650207 54211 Q13502 U46752 GDB:10796520 69134 OSM oncostatin M Oncostatin M is a member of a cytokine family that includes leukemia-inhibitory factor, granulocyte colony-stimulating factor, and interleukin 6. This gene encodes a growth regulator which inhibits the proliferation of a number of tumor cell lines. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. 1580863 2779549,9920829,1542793,1717982,7867561,7508917,18187666,18028996,17979974,17881458,17761945,17604327,17471233,17372020,17081797,17028186,17009243,16802343,16713283,16369169,15863389,15837947,15831292,15809742,15712220,15489334,15461802,15146412,12707269,12692260,12640208,12531804,12477932,12391243,12218157,12138373,12090757,12061841,12061840,11936950,11839742,11818668,11811789,11777927,11711546,10997905,10591208,10556323,9847074,8999038,8422753,8406444,3540948,2325640,2026606,1542794,1536831,16189514 5008 CH471095,M27286,M27287,M27288,BC011589,CR456534,CR541703,NM_020530,AC004264,AF129855 EAW59864,EAW59865,AAA36388,AAH11589,CAG30420,CAG46504,P13725,Q6FHP8,CAK54565,CAK54864,ABM83463,ABM86674,NP_065391,AAC05173,AAD31435 Hs.248156 GDB:129048 MGC20461 protein-coding 1352311 OSMR oncostatin M receptor Oncostatin M is a member of the IL6 family of cytokines. Functional receptors for IL6 family cytokines are multisubunit complexes involving members of the hematopoietin receptor superfamily. Many IL6 cytokines utilize gp130 as a common receptor subunit. OSM binds to the gp130 receptor subunit and, in association with the leukemia inhibitory factor receptor, induces a proliferative response in permissive cells. OSMR is an alternative subunit (for an OSM receptor complex (a heterodimer of gp130 and OSMR) that is activated by OSM but not by LIF 1580863 8999038,18179886,17028186,15831292,15489334,15184896,12477932,12061840,11786531,11706938,11602599,10997905,10586060,9662460,9617575,9188471 9180 NM_003999,AC026713,CH471119,BC010943,BC063468,BC125209,BC125210,CR593298,CR623600,U60805 NP_003990,EAW55976,EAW55977,AAH10943,AAH63468,AAI25210,AAI25211,AAC50946,Q99650 Hs.120658 GDB:9955180 MGC150626|MGC150627|MGC75127|OSMRB protein-coding 1605876 OSR1 odd-skipped related 1 (Drosophila) 16381901,15815621,15761153,15489336,15489334,14702039,12477932,12119563,11256614,11076863,2120051 130497 NM_145260,AC018741,CH471053,CQ782558,DQ021502,AB082568,AI391506,AK074591,AK122756,BC025712,CR602655 NP_660303,AAY14760,EAX00846,EAX00847,EAX00848,CAF85834,AAY26397,BAB92079,BAC11079,AAH25712,Q0JTB7,Q8TAX0,CAL38246 Hs.123933 GDB:9958498 ODD protein-coding 1345615 OSR2 odd-skipped related 2 (Drosophila) OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM] 737633,1580863 15670784,15489334,15175245,14702039,12477932,12119563,11520675 737633 116039 NM_053001,AC016877,CH471060,AK074518,AK291491,AY038072,AY038073,BC016936,CR593221 NP_443727,EAW91784,EAW91785,BAC11035,BAF84180,AAK74066,AAK74067,AAH16936,Q8N2R0 Hs.253247 FLJ90037 protein-coding 733236 OSTF1 osteoclast stimulating factor 1 Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM] 1580863 17353931,10092216,17081983,16946461,16508112,15489334,15342556,15164053,15135048,12477932,11551898,10773673,9630982,9373149,8125298,16189514 26578 CH471089,AK222596,AK291511,BC007459,BP312980,CR594571,CR601709,U63717,NM_012383,AL133548 CAH71573,EAW62570,EAW62571,EAW62572,EAW62573,BAD96316,BAF84200,AAH07459,AAB06396,Q92882,NP_036515 Hs.494192 GDB:10795688 FLJ20559|OSF|SH3P2|bA235O14.1 protein-coding 1348431 OSTF1P osteoclast stimulating factor 1 pseudogene 386654 NG_003109,AC069240 pseudo 1345018 OSTM1 osteopetrosis associated transmembrane protein 1 This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. 18296023,17985267,17922613,16303743,15489334,15177004,15108279,14702039,12975309,12826607,12627228,12477932,12079282,11042152 28962 AA428166,AF077205,AF533891,AJ420489,AJ420572,AK075012,AK129854,AV715475,AY358795,BC010845,BC016376,BC059412,BC068581,BE218267,BI668275,NM_014028,NG_007262,CH471051,Z98200,BK000461,BQ716123 CAI19229,AAD27000,AAO72749,BAC11351,AAQ89155,AAH68581,NP_054747,EAW48389,EAW48390,EAW48391,DAA00039,Q5R391,Q86WC4 Hs.226780,Hs.706947,Hs.711589 GIPN|GL|HSPC019|OPTB5 protein-coding 1342782 OSTN osteocrin 1304017 15044443,14523025,17951249,17950246 1304017 344901 NM_198184,AC126567,CH471052,AY398681,AY573933,BC128106,BC128107 NP_937827,EAW78095,AAQ94966,AAS87599,AAI28107,AAI28108,P61366 Hs.526794 MUSCLIN protein-coding 1604974 OSTalpha organic solute transporter alpha 16317684,17332473,16713569,16423920,16269519,16251721,15563450,12719432,12477932 200931 NM_152672,AC069257,CH471191,AK172837,AY194243,BC029606 NP_689885,EAW53665,BAD18802,AAP23993,AAH29606,Q86UW1 Hs.651164 MGC39807|OSTA protein-coding 1604245 OSTbeta organic solute transporter beta 12719432,17332473,16423920,16317684,16269519,16251721,15563450,12477932 123264 NM_178859,AC013553,CH471082,AY194242,BC103842,BC103843,BC103844,AK129601 NP_849190,AAP23992,AAI03843,AAI03844,AAI03845,Q86UW2,EAW77708 Hs.534533 FLJ26090|MGC118959|MGC118960|MGC118961 protein-coding 732939 OTC ornithine carbamoyltransferase This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. 1601074,1582379,1300048,1600998,1600999,1580863 6372096,18030415,17570354,7474905,7085676,6942417,6494904,6169723,3943133,3895227,3891325,3782067,3170748,2983225,2843770,2836378,2741942,2722850,2556444,2474822,2347583,2208768,2037279,2035531,1757964,1721894,1671317,1627356,1602151,1480464,17570074,17041896,16786505,15772651,15692798,15489334,15300856,12618087,12516615,12477932,12083811,11793483,11793468,11768581,11260212,10813810,10737985,10565370,10502831,10405441,10070627,9852088,9756929,9286441,9266388,9143919,9065786,9056557,8956045,8956038,8863155,8830175,8807340,8544185,8530002,8364586,8099056,8081398,8081373,8019569,7951259,7860066,7860064,7627182,1353535 1601074,1582379,1600998,1600999 5009 AF241726,AL606748,AL607040,CH471141,D00095,D00230,M11235,S73640,X04443,AI247721,AK292757,BC074745,BC107153,BC107154,BC114496,BX118743,BX494966,CB158478,K02100,NM_000531 NP_000522,CAI95408,CAI95193,EAW59439,EAW59440,BAA00058,BAA00161,AAA59976,AAB31859,CAA28039,BAF85446,AAH74745,AAI07154,AAI07155,AAI14497,AAA59975,P00480,Q3KNR1 Hs.117050 GDB:119468 MGC129967|MGC129968|MGC138856|OCTD protein-coding 1348640 OTOA otoancorin 1580863 14702039,12477932,11972037 146183 NM_144672,NM_170664,AC092719,CH878403,AK093062,AK125840,BC038458,BC040551,BC129992,BC129993,BK000099 NP_653273,NP_733764,EAW50524,EAW50525,BAC04040,AAH38458,AAH40551,AAI29993,AAI29994,DAA00022,Q05BM7,Q49AC7,Q7RTW8 Hs.408336 GDB:11508846 DFNB22|FLJ32773|MGC157747|MGC39813 protein-coding 1344284 OTOF otoferlin Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. 1580863 10192385,17055430,16371502,14635104,12525542,12469219,12127154,12114484,10903124,10878664,10843812,8593615,14563843 9381 NM_194322,NM_194323,NM_004802,AC093378,AC108070,CH471053,AF107403,AF183185,AF183186,AF183187,NM_194248 NP_919224,NP_919303,NP_919304,NP_004793,AAY15083,EAX00682,EAX00683,EAX00684,EAX00685,EAX00686,EAX00687,AAD26117,AAG12991,AAG12992,AAG17468,Q53R90,Q9HC10,AAI56052,AAI56939 Hs.91608 GDB:681215 DFNB6|DFNB9|FER1L2|NSRD9 protein-coding 1315323 OTOG otogelin 10337628,9405633 340990 XM_291816,XM_001717531,XM_941002,AC124799,AK128214 XP_291816,XP_001717583,XP_946095,BAC87330,Q6ZRI0 Hs.688380 GDB:9836804 FLJ46346|OTGN|mlemp protein-coding 735811 OTOP1 otopetrin 1 633435 12651873 633435 133060 NM_177998,AC011744,BK000654,CH471131,BC130430,BC130432,BK000653 NP_819056,DAA00902,EAW82445,EAW82446,AAI30431,AAI30433,DAA00901,Q7RTM1 Hs.534544 MGC163302|MGC163304 protein-coding 1312497 OTOP2 otopetrin 2 633435 12651873 633435 92736 NM_178160,NG_007882,AC068874,AC087651,CH471099,AK000063,BK000567 NP_835454,EAW89213,DAA00895,Q7RTS6,AAI48347,AAI52987 Hs.352515 protein-coding 1315404 OTOP3 otopetrin 3 633435 12651873 633435 347741 NM_178233,AC087651,CH471099,BK000568 NP_839947,EAW89214,EAW89215,EAW89216,DAA00896,Q7RTS5,AAI40367 Hs.454407 protein-coding 1313174 OTOR otoraplin The protein encoded by this gene is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. This gene is a member of the melanoma-inhibiting activity gene family. In addition, alternate polyA sites exist for this gene. 1580863 10873378,15489334,15340161,12975309,12477932,11780052,11161796,10998416,7829101 56914 NM_020157,AJ252324,AL034428,CH471133,AF233261,AF243505,AJ242552,AY359082,BC101688,BC101690,BI495573,CR624240 NP_064542,CAC28085,CAC16848,EAX10282,EAX10283,AAF82078,AAG42356,CAC27443,AAQ89441,AAI01689,AAI01691,Q9NRC9 Hs.41119 GDB:10796870 FDP|MGC126737|MGC126739|MIAL|MIAL1 protein-coding 1349689 OTOS otospiralin Otospiralin is synthesized by nonsensory cells (fibrocytes) of the inner ear, and downregulation of otospiralin in guinea pigs leads to deafness (Lavigne-Rebillard et al., 2003 [PubMed 12687421]).[supplied by OMIM] 15815621,15489334,12687421,12477932,11880501 150677 NM_148961,AC013469,AY062256,CH471063,AI201810,BC105085,BC105087,BX118794 NP_683764,AAY14739,AAL47489,EAW71179,AAI05086,AAI05088,Q8NHW6 Hs.148586 OTOSP protein-coding 1345021 OTP orthopedia homeobox This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. 12477932,10458915 23440 NM_032109,AC108173,CH471084,BC001800 NP_115485,EAW95809,AAH01800,Q5XKR4,ABZ92225 Hs.202247 GDB:9956560 MGC3161 orthopedia homolog (drosophila) protein-coding 1353064 OTSC1 otosclerosis 1 9425236 5012 GDB:9860473 1344786 OTSC2 otosclerosis 2 11170898 93999 GDB:10450575 1345913 OTSC3 otosclerosis 3 12114476 170532 GDB:11507353 1348662 OTSC4 otosclerosis 4 286751 1352878 OTSC5 otosclerosis 5 15173231 317682 1343945 OTSC6 otosclerosis 6 319090 1346516 OTSC7 otosclerosis 7 399516 1322723 OTUB1 OTU domain, ubiquitin aldehyde binding 1 The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. 16364312,15489334,15231748,14702039,14661020,12704427,12477932,12401499,11042152,10664582,9373149,8125298,16189514 55611 Q659F9,Q96FW1 NM_017670,NR_003089,AP000721,CH471076,CQ834180,CR603813,CR604649,CR604801,CR605354,CR609035,CR610074,CR612641,CR616043,CR617285,CR617582,CR617727,CR617783,CR618522,CR620541,AF161381,AK000120,AK091830,AK098029,AK225133,AL096714,AY177200,BC007519,BC010368,BC107701,CK906312,CR598022,CR598561,CR598740,CR599600,CR602250,CR603142 NP_060140,EAW74187,EAW74188,EAW74189,EAW74190,EAW74191,CAH05305,Q659F9,Q96FW1,AAF28941,BAA90956,CAH56412,AAO27702,AAH07519,AAH10368,AAI07702 Hs.473788,Hs.675415 FLJ20113|FLJ40710|HSPC263|MGC111158|MGC4584|OTB1|OTU1 protein-coding 1315448 OTUB2 OTU domain, ubiquitin aldehyde binding 2 Otubains are deubiquitylating cysteine proteases (DUBs; see MIM 602519) that belong to the ovarian tumor (OTU) protein superfamily. Like other DUBs, otubains cleave proteins precisely at the ubiquitin (UB; see MIM 191339)-protein bond.[supplied by OMIM] 12704427,16189514,15489334,15258613,15014966,14702039,12508121,12477932 78990 NM_023112,AL079302,CH471061,AF318378,AI018242,AK025569,AY177201,BC000208,BC009615,BC068058,BG423958,CR457345 NP_075601,EAW81548,EAW81549,AAL55885,BAB15172,AAO27703,AAH00208,AAH09615,AAH68058,CAG33626,Q6IA10,Q8WYS4,Q96DC9,Q9BWI9 Hs.278815 C14orf137|FLJ21916|MGC3102|OTB2|OTU2 protein-coding 1344729 OTUD1 OTU domain containing 1 15164054,14702039 220213 Q5VV17 XM_166659,XM_001134465,AL512603,AB188491,AK096389 XP_166659,XP_001134465,CAH73715,Q5VV17 Hs.499042 OTDC1 protein-coding 1604042 OTUD3 OTU domain containing 3 16710414,12477932,11181995,9455484 23252 NM_015207,AL358253,AL391883,CH471134,AA829387,AB007928,BC119636,BC134416,CR609865,CR613908,CV573628 NP_056022,CAI17041,EAW94905,BAA32304,AAI19637,AAI34417,Q0VDK5,Q5T2D3 Hs.374987 DUBA4|KIAA0459|RP11-460G22.1 protein-coding 1603307 OTUD4 OTU domain containing 4 Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. 17353931,17081983,16964243,16344560,15592455,15489334,15302935,15144186,14702039,12477932,10470851,8889548,1475186 54726 AB028969,AK056597,NM_001102653,NM_199324,NM_017493,AC096757,CH471056,DQ427109,AL137460,AU139986,BC020682,BC057242,BC118572,BC118653,BM471766,CA313890,CR592200,DB446926,X68242 BAA82998,NP_001096123,NP_955356,NP_059963,EAX05042,EAX05043,EAX05044,EAX05045,EAX05046,EAX05047,EAX05048,ABD72605,CAB70748,AAH20682,AAH57242,AAI18573,AAI18654,CAA48313,Q01804,BAB71229 Hs.270851 DKFZp434I0721|DUBA6|HIN1|HSHIN1|KIAA1046 protein-coding 1604609 OTUD5 OTU domain containing 5 17991829,15489334,15302935,14702039,12477932 55593 NM_017602,AF207550,CH471224,AK022612,AK026260,AL137509,BC009917,BC011738,BC028225,BC098440 NP_060072,EAW50722,EAW50723,EAW50724,EAW50725,EAW50726,EAW50727,BAB14131,BAB15416,CAB70778,AAH09917,AAH28225,AAH98440,Q96G74 Hs.496098 DKFZp761A052|DUBA|MGC104871 protein-coding 1605871 OTUD6A OTU domain containing 6A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA2 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 14702039 139562 NM_207320,AL158141,CH471132,AK098697,BC137355,BC137356 NP_997203,EAX05357,BAC05384,AAI37356,AAI37357,Q7L8S5 Hs.447381 DUBA2|FLJ25831|HSHIN6 protein-coding 1602119 OTUD6B OTU domain containing 6B Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA5 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 16344560,15489334,12477932,10810093 51633 NM_016023,AC087439,CH471060,AA748163,AF151836,AK291646,AL137441,BC029760,BI712470,BX647772,DA034027 NP_057107,EAW91675,EAW91676,AAD34073,BAF84335,CAB70738,AAH29760,Q8N6M0 Hs.30532 CGI-77|DUBA5 protein-coding 1351552 OTUD7A OTU domain containing 7A Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. OTUD7A belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 15489334,12477932 161725 NM_130901,AC021316,AC104266,AC104759,CH471216,CQ772591,AJ430383,AK126002,BC035668 NP_570971,EAW61269,EAW61270,EAW61271,EAW61272,EAW61273,CAF33875,CAD23047,BAC86388,AAH35668,Q6ZU39,Q8TE49 Hs.355236 C15orf16|C16ORF15|CEZANNE2|OTUD7 chromosome 15 open reading frame 16 protein-coding 1352780 OTUD7B OTU domain containing 7B 11463333,18178551,15489334,15342556,15302935,14748687,12682062,12477932,9928991 56957 NM_020205,AL358073,AL590487,CH471121,AJ293573,AL122102,BC015719,BC020622,BC072681,BP357326,BX641079 NP_064590,CAI12651,CAI12652,EAW53586,EAW53587,CAB97494,CAB59268,AAH20622,AAH72681,Q5SZ59,Q5SZ60,Q6GQQ9,ABZ92356 Hs.98322 CEZANNE|ZA20D1 protein-coding 736236 OTX1 orthodenticle homeobox 1 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper brain and sensory organ development and can cause epilepsy. 1580863 10624946,9520436,8841200,8101484,7959790,16189514,15815621,15489334,15105370,14702039,12477932,11901358 5013 NM_014562,AB037501,AC009501,CH471053,AK095680,BC007621 NP_055377,BAA90421,AAY24357,EAW99966,EAW99967,EAW99968,AAH07621,P32242,Q9P2R2,ABM84227,ABM87508 Hs.445340 GDB:277887 FLJ38361|MGC15736 protein-coding 1313892 OTX2 orthodenticle homeobox 2 This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined. 1580863 15705863,16267555,17905480,17541950,17060451,16713569,16712695,16607563,15846561,15705891,15489334,15105370,12663655,12559959,12477932,10623575,10372988,10354480,9520436,8101484,7959790,12642491 5015 NM_021728,NM_172337,AB037505,AF298117,AL161757,CH471061,AF093138,BC032579,BE781530 NP_068374,NP_758840,BAA90425,AAG16243,EAW80692,EAW80693,AAD31385,AAH32579,P32243,ABM81801,ABW03293 Hs.288655 GDB:277888 MCOPS5|MGC45000 protein-coding 1603916 OVCA2 candidate tumor suppressor in ovarian cancer 2 14702039,12477932,11979432,8616839 124641 NM_080822,AC090617,AF335321,CH471108,AF073528,AF321875,BC040696,BC041170,CB137429 NP_543012,AAN04659,EAW90568,AAC62628,AAL35713,AAH40696,AAH41170,Q8WZ82 Hs.513856 protein-coding 1343843 OVCH1 ovochymase 1 1580863 16541075,12838346 341350 NM_183378,AC012151,CH471094,BN000128 NP_899234,EAW96595,EAW96596,CAD67579,Q7RTY7,AAI52895,AAI56870 Hs.674588 OVCH protein-coding 1602408 OVCH2 ovochymase 2 16554811,12838346 341277 NM_198185,AC104237,BN000120,CH471064 NP_937828,CAD66452,EAW68647,Q7RTZ1 Hs.532475 OVTN protein-coding 1344116 OVD1A 2-oxoisovalerate dehydrogenase (lipoamide) 5014 GDB:118849 1349339 OVGP1 oviductal glycoprotein 1, 120kDa (mucin 9, oviductin) This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. 1580863 9341614,16710414,16567366,16209999,15585630,15489334,14641477,12503889,12477932,11818519,7819450,3278893,10728974,9109822 5016 NM_002557,AF189710,AL390195,CH471122,U58010,AA909093,AB208783,AY189737,BC126177,U09550 NP_002548,AAF01065,CAC36039,EAW56491,EAW56492,AAB04126,BAD92020,AAO37816,AAI26178,AAA86946,Q12889,Q59HH5,Q86YN0,Q9UJZ3 Hs.1154 GDB:390809 CHIT5|EGP|MUC9|OGP protein-coding 1315865 OVOL1 ovo-like 1(Drosophila) This gene encodes a protein highly similar to Drosophila and mouse proteins. In Drosophila the ovo protein plays a critical role in Drosophila oogenesis and cuticle formation. In mice the ovo like protein is involved in hair formation and spermatogenesis. The function of the human gene product has not been determined. 1580863 15489334,12477932,9808631,9383297 5017 NM_004561,AP001266,CH471076,AF016045,AK291711,AL702845,BC043146,BC059408,BX648725 NP_004552,EAW74439,AAB72084,BAF84400,AAH43146,AAH59408,CAH56127,O14753,Q86XL8,ABZ92428 Hs.134434 GDB:6306718 HOVO1 protein-coding 1314567 OVOL2 ovo-like 2 (Drosophila) 1580863 11780052,15489334,14702039,12477932,12213202 58495 NM_021220,AL121585,AL160411,CH471133,AK022284,AL079276,BC006148,BT007295,CR604525 NP_067043,CAI14857,EAX10258,EAX10259,BAB14002,CAB45151,AAH06148,AAP35959,Q9BRP0 Hs.661013,Hs.708339 GDB:11508211 EUROIMAGE566589|ZNF339 protein-coding 1316768 OXA1L oxidase (cytochrome c) assembly 1-like 1580863 9247084,15489334,12477932,12191770,8586451,7991568 5018 NM_005015,AJ001981,AL135998,CH471078,BC001669,BC112331,BX248001,BX248295,CR591385,CR591626,CR595927,CR597770,CR599195,CR600101,CR600198,CR600580,CR601613,CR603361,CR604517,CR605168,CR607911,CR612470,CR619654,CR619931,CR619987,CR620768,X80695,CR621151,CR623151,CR623590,CR624667,CR625703 NP_005006,CAA05127,EAW66249,AAH01669,AAI12332,CAD62333,CAD62623,CAA56712,Q15070,Q2M1J6 Hs.151134 GDB:439260 MGC133129 protein-coding 1312252 OXCT1 3-oxoacid CoA transferase 1 This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. 1580863 8751852,10964512,9671268,11756565,17706444,16765626,15496607,15489334,14702039,12477932,9380443,6150478,1405472 5019 NM_000436,AB029576,AC008817,AC034222,AC114946,CH471119,AK125115,BC009001,BE244429,CR457049,CR590281,CR611841,EF095213,U62961 NP_000427,BAB13733,EAW56014,EAW56015,AAH09001,CAG33330,ABL01517,AAB07366,P55809,Q6IAV5,ABM82731,ABM85915 Hs.278277 OXCT|SCOT protein-coding 1315859 OXCT2 3-oxoacid CoA transferase 2 OXCT2 is a testis-specific succinyl-CoA:3-oxoacid CoA transferase (EC 2.8.3.5), which catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate in the first step of ketone body utilization. See also OXCT1 (MIM 601424).[supplied by OMIM] 1580863 11756565,15489334,14702039,12477932,11327867,11214971 64064 NM_022120,AL033527,AB050193,AK024440,AK093089,AY013700,BC030015,BC072388 NP_071403,CAI19402,BAB40810,BAB15730,AAG33922,AAH72388,Q5QPK4,Q6INA3,Q9BYC2,Q9H7N8,ABM84266,ABM87659 Hs.472491 GDB:11507356 FKSG25|FLJ00030|SCOT-T protein-coding 1348789 OXCT2P 3-oxoacid CoA transferase 2 pseudogene 11756565 192217 NG_001331,AB052900,AL365277 pseudo 1346676 OXER1 oxoeicosanoid (OXE) receptor 1 1580863 12065583,16289380,15815621,15489334,15001665,14702039,12606753,12477932,12044878 165140 NM_148962,AB065652,AB083630,AC098824,CH471053,AB083055,AY158687,BC063549 NP_683765,BAC05878,BAB89343,AAY14700,EAX00312,BAC11806,AAO17739,AAH63549,Q8TDS5 Hs.168439 GPCR|GPR170|TG1019 protein-coding 1346637 OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1331359 12098360,15489334,15141213,15057823,15001573,12477932,12044878,11574155 1331359 27199 NM_080818,AB065877,AB083598,AF411109,AL356486,CH471085,CQ798086,AF370886,AJ305372,AK122639,BC103881,BC103882,BC103883 NP_543008,BAC06095,BAB89311,AAL26480,CAI16508,EAX08964,CAG26849,AAM76912,CAC83857,AAI03882,AAI03883,AAI03884,Q96P68 Hs.352218 GPR80|GPR99|MGC119206|MGC119207|MGC119208|P2RY15|P2Y15 protein-coding 1603935 OXNAD1 oxidoreductase NAD-binding domain containing 1 12477932 92106 NM_138381,AC090953,CH471055,AB209556,AL583453,AL832787,BC007285,BC008322,BC018770,BE018369,CR603194,CR610840,CR614426,CR616590,DQ364598 NP_612390,EAW64270,EAW64271,EAW64272,BAD92793,AAH08322,ABC95193,Q96HP4 Hs.655449 MGC15763 protein-coding 736990 OXR1 oxidation resistance 1 1580863 11114193,17391516,17081983,15489334,15060142,14702039,12880961,12477932 55074 NM_181354,AC023344,AC090579,CH471060,DQ020202,AB075503,AF309387,AK000987,AK096148,AK123667,AK124441,AK127563,AK292899,AL833193,BC019691,BC032710,BC035484,BM472225,CR596350 NP_851999,EAW91903,EAW91904,EAW91905,AAY26396,BAE45753,AAG25715,BAA91456,BAC04711,BAC85852,BAF85588,CAI46186,AAH19691,AAH32710,Q05CY8,Q8N573,ABM81826,ABM84979 Hs.148778 GDB:11501059 FLJ10125|FLJ38829|FLJ41673|FLJ42450|FLJ45656|Nbla00307 protein-coding 1603026 OXSM 3-oxoacyl-ACP synthase, mitochondrial OXSM is a mitochondrial beta-ketoacyl synthase (EC 2.3.1.41) involved in mitochondrial fatty acid synthesis. It is required for catalysis of the chain-elongating condensation reaction (Zhang et al., 2005 [PubMed 15668256]).[supplied by OMIM] 15668256,16806233,15489334,14702039,12477932,9373149,8125298 54995 NM_017897,AC092798,CH471055,AK000611,AK225260,BC008202,CR591217,CR596080,CR620964,CR626836 NP_060367,EAW64367,EAW64368,EAW64369,BAA91286,AAH08202,Q9NWU1 Hs.55781 FASN2D|FLJ20604|KS protein-coding 1351310 OXSR1 oxidative-stress responsive 1 The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. 1580863 16263722,15761153,15489334,15345747,15302935,12477932,12386165,10470851,10231028,14707132,17353931,10083736,17081983,16832045,16669787,16389068 9943 AB017642,AB029024,AF087893,BC008726,BI090706,NM_005109,AP006193,AP006308,AP006309,CH471055,DQ201638 ABA27097,BAA75674,BAA83053,AAP97192,AAH08726,O95747,ABM84181,ABM87583,NP_005100,EAW64522,EAW64523,EAW64524,EAW64525 Hs.475970 KIAA1101|OSR1 protein-coding 737586 OXT oxytocin, prepro- (neurophysin I) There are two proteins encoded by this gene, oxytocin and neurophysin I. Oxytocin is posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. 1580863,1579892 10218979,18207134,18008328,17931766,17492653,17252002,17137561,16778082,16678285,15489334,15093695,15089975,14607844,13591312,12843193,12834028,12832367,12712516,12477932,12475731,12183418,12126740,11780052,11140838,10829090,10698266,9665335,9501254,7262323,6574452,6153132,4065330,3768139,3008332,2991279,2249637,1486803,12173 1579892 5020 NM_000915,AL160414,AY082910,CH471133,CQ753275,M11186,BC069144,BC101841,BC101843,M25650,M62611,X03173 NP_000906,CAC10204,AAL92860,EAX10555,CAF32560,AAA98806,AAH69144,AAI01842,AAI01844,AAA59977,AAA59979,CAA26936,P01178 Hs.113216 GDB:120253 MGC126890|MGC126892|OT|OT-NPI protein-coding 736017 OXTR oxytocin receptor The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. 1579893,1579891,1580863,1579892 10858434,1313946,10910058,18207134,17939166,17893705,17728669,17726073,17492653,17383819,17148753,16966388,15831296,15705593,15591449,15093695,15089977,15089975,15044599,15035619,14749664,14691010,14664707,12955084,12843193,12810550,12270111,12166628,12161007,12126740,11955056,11279203,11140838,10698266,10453463,10027615,9433921,9283088,8593830,8593829,8077313,7921229,7798245,7607693,16888077,16333859,16042376,15992526 1579893,1579891,1579892 5021 NM_000916,AC068312,CH471055,X80282,AY389507,X64878 NP_000907,EAW63947,CAA56562,AAQ91333,CAA46097,P30559 Hs.2820 GDB:132413 OT-R protein-coding 1604059 P11 26 serine protease This gene encodes a protein with protease activity. Its specific function has not been determined. The protein may be useful as a tumor marker. 1710108,2350438,6755403,16303743,15489334,12477932 8909 NM_006025,AC004241,CH471111,AK075446,BC069698,BC069715,BC074763,BC111782,CR592392,CR606110,M32402,M36109 NP_006016,EAW57940,EAW57941,AAH69715,AAH74763,AAI11783,AAA36464,AAA36465,P21128 Hs.997 GDB:9959022 MGC133268|PP11|PRSS26 protein-coding 1601829 P117 hypothetical protein P117 17353931,14702039,12477932 125988 NM_205767,AB167391,AC011499,CH471139,AK091768,BC009557,BC042386,BC052640,BM563199,CR596153,CR615232 NP_991330,BAE80091,EAW69159,EAW69160,AAH09557,AAH42386,Q5XKP0 Hs.356626 protein-coding 1605654 P15RS cyclin-dependent kinase 2B-inhibitor-related protein P15RS is upregulated in cells overexpressing cyclin-dependent kinase inhibitor p15(INK4b) (CDKN2B; MIM 600431) and may have a role in cell cycle regulation (Liu et al., 2002 [PubMed 12470661]).[supplied by OMIM] 14702039,12477932,12470661 55197 BC000225,BC010136,CR590094,CR590908,CR612452,CR617134,NM_018170,AC091060,CH471088,AF419845,AK001518,AK292907 AAH00225,AAH10136,Q96P16,ABM83836,ABW03521,NP_060640,EAX01365,EAX01366,EAX01367,EAX01368,EAX01369,EAX01370,AAL15972,BAA91736,BAF85596 Hs.464912 FLJ10656|MGC19513 protein-coding 1353221 P200 p200 cell surface protein 5035 GDB:120256 736780 P2RX1 purinergic receptor P2X, ligand-gated ion channel, 1 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle, being responsible, for example, for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. It is possible that the development of selective antagonists for this receptor may provide an effective non-hormonal male contraceptive pill. 1580811,1580863 11376948,10816552,10638758,9558372,8809107,9565569,2457808,8834001,17399929,16997281,16634759,16546137,16529657,16420578,16359770,16236030,16113781,16006561,15686781,15489334,15313628,15087444,14699168,14675100,14557870,14500714,12907444,12791671,12521992,12495655,12477932,12353081,12270951,12239162,12135734,11816716,11815371,11809854 1580811 5023 NM_002558,A47363,AC005940,AF078925,AF177472,CH471108,AF020498,BC027949,BC044657,U45448,X83688 NP_002549,CAA03057,AAC32187,AAD55395,EAW90471,EAW90472,EAW90473,AAC24494,AAH27949,AAH44657,AAC50698,CAA58657,P51575,Q6PIW1,Q71UK3 Hs.41735 GDB:5585708 P2X1 protein-coding 733979 P2RX2 purinergic receptor P2X, ligand-gated ion channel, 2 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Six transcript variants encoding six distinct isoforms have been identified for this gene. 633343,1580863 9119082,15657042,15331767,15313628,14660627,12477932,12395104,12270951,10935636,10570044,7566120,7523952 633343 22953 AF109388,AF190822,AF190823,AF190824,AF190825,AF260426,AF260427,AF260428,AF260429,AY346374,BC109200,AF109387,NM_170682,NM_174873,NM_016318,NM_012226,NM_174872,AC131212,AF190826,CH471218,NM_170683 AAD42947,AAD42948,AAF19170,AAF19171,AAF19172,AAF19173,AAF74201,AAF74202,AAF74203,AAF74204,AAQ54329,NP_733783,NP_733782,NP_777362,NP_057402,NP_036358,NP_777361,AAF19174,EAW54835,EAW54836,EAW54837,EAW54838,EAW54839,EAW54840,AAI09201,Q32MC3,Q9UBL9 Hs.258580 GDB:9957764 MGC129601|P2X2 protein-coding 735321 P2RX3 purinergic receptor P2X, ligand-gated ion channel, 3 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. 1580863 9221902,17052768,15475563,15331767,14520770,12885270,12477932,12270951,11069162,9016352,7566120,7566110 5024 BC074792,BC074793,BC109287,NM_002559,AP000781,CH471076,AB016608,BC069162 AAH74792,AAH74793,AAI09288,P56373,Q6DK37,Q6NTB1,NP_002550,EAW73736,EAW73737,BAA76515,AAH69162 Hs.146738 GDB:7154722 MGC129956|P2X3 protein-coding 732285 P2RX4 purinergic receptor P2X, ligand-gated ion channel, 4 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants have been identified for this gene although their full-length natures have not been determined. 9016352,17895406,17264311,17197037,16949036,16533808,15262999,15167446,15130891,15006691,12714321,12477932,12270951,12088286,11299224,9373149,9221902,8125298 5025 AC069209,AF191093,CH471054,U85971,U87270,AF000234,AF012903,AK225604,BC017458,BC033826,BC035845,BT019738,BT019739,CR609333,CR613665,CR613673,NM_002560,CR623433,DQ851491,U83993,Y07684 NP_002551,AAF06661,EAW98242,EAW98243,EAW98244,EAW98245,EAW98246,AAD00556,AAB58405,AAB66834,AAH33826,AAV38543,AAV38544,ABI31772,AAD00553,CAA68948,Q0GM93,Q5U089,Q5U090,Q8N4N1,Q99571,ABM81832,ABM84985 Hs.321709 GDB:7154724 P2X4|P2X4R 2289606 BW476_H protein-coding 737418 P2RX5 purinergic receptor P2X, ligand-gated ion channel, 5 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Several characteristic motifs of ATP-gated channels are present in its primary structure, but, unlike other members of the purinoceptors family, this receptor has only a single transmembrane domain. Three transcript variants encoding distinct isoforms have been identified for this gene. 1580863 9414125,17001079,16967306,16322791,14702039,12880424,12787128,12665801,12477932,12270951,10673275,9110174,8619474 5026 NM_175080,NM_002561,NM_175081,AC132942,AF168787,CH471108,AF016709,AF070573,AK092966,AK290889,BC006220,BC008319,BC016917,BC028084,BC039015,BM477082,CR612864,CR624034,DQ234349,DQ851492,U49395,U49396 NP_778255,NP_002552,NP_778256,AAF43105,AAF43106,EAW90482,EAW90483,EAW90484,EAW90485,EAW90486,EAW90487,EAW90488,AAC51931,AAC28645,BAF83578,AAH39015,ABB29978,ABI31773,AAB08576,AAB08577,Q0GM92,Q308M5,Q8IXW4,Q93086 Hs.408615 GDB:9837394 MGC47755|P2X5|P2X5R protein-coding 736820 P2RX6 purinergic receptor P2X, ligand-gated ion channel, 6 The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. 1580863 9242461,16344560,15657042,15489334,15461802,12477932,12112843,12088286,11171941,10591208,8786426,8670303 9127 BC063553,BC064805,BC109209,CR456535,DA333742,NM_005446,AB002059,AC002472,CH471176,AB002058,AF065385,BC033488,BC047287 AAH47287,AAH64805,AAI09210,CAG30421,O15547,Q05BG9,Q32MB6,Q6P1Z3,CAK54566,NP_005437,BAA22047,EAX02910,EAX02911,EAX02912,EAX02913,EAX02914,BAA22046,AAF13303,AAH33488,CAK54865 Hs.113275 GDB:9955078 MGC129625|P2RXL1|P2X6|P2XM purinergic receptor P2X-like 1, orphan receptor|purinergic receptor p2x-like 1 protein-coding 730814 P2RX7 purinergic receptor P2X, ligand-gated ion channel, 7 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants which would encode different isoforms have been identified although some fit nonsense-mediated decay (NMD) criteria. 9038151,18268501,18211888,18089587,18071294,17947359,17928361,17895406,17558311,17488689,17483156,17482244,17314141,17286963,17257221,17197037,17142754,17130901,17095747,17065105,17065062,17040997,17036048,17032903,16822851,16740600,16673375,16624800,16541075,16514055,16424024,16321858,16263709,16228288,16117789,15991050,15972634,15942904,15923180,15901833,15899033,15896293,15862308,15778408,15777864,15728711,15571247,15489334,15475073,15472991,15304508,15184265,15155383,15123679,15120006,15089763,15004138,14976257,14702039,14607949,14510944,12931211,12880424,12874219,12787128,12759456,12633871,12586825,12493261,12477932,12456589,12424250,12422208,12404161,12270951,12107182,11943260,11852049,11707406,11150303,9826911,9373149,8125298,16189514 5027 NM_002562,AC069209,AC079602,CH471054,Y12851,AB209709,AK090866,AK225163,AK290405,AY847298,AY847299,AY847300,AY847301,AY847302,AY847303,AY847304,BC007679,BC011913,BC121157,BC121158,BI598073,DQ399293,Y09561 NP_002553,EAW98239,EAW98240,CAA73360,BAD92946,BAF83094,AAX82087,AAX82088,AAX82089,AAX82090,AAX82091,AAX82092,AAX82093,AAH07679,AAH11913,AAI21158,ABD59798,CAA70755,Q15G98,Q4VKH8,Q4VKH9,Q4VKI0,Q4VKI1,Q4VKI2,Q4VKI3,Q4VKI4,Q59EV2,Q7Z771,Q99572,ABM84383,ABM87336,Q0IJ51 Hs.507102 GDB:7087505 MGC20089|P2X7 protein-coding 736104 P2RY1 purinergic receptor P2Y, G-protein coupled, 1 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. 1580863 8630005,18174464,18057028,17824841,17559347,17095747,16848759,16804093,16741950,16634769,16581111,16546137,16267125,15665114,15602005,15590415,15514209,15509659,15496502,15489334,15284110,15203713,15187029,15099288,14644082,12880424,12871508,12787128,12623443,12603858,12477932,12393588,12147294,11904146,11690642,11578839,11390975,11159687,9671706,9442040,9268704,9039850,9038354,8666290,8579591 5028 NM_002563,AC013251,AJ006945,CH471052,S81950,AF018284,AY136752,BC074784,BC074785,U42029,U42030,Z49205 NP_002554,CAA07339,EAW78773,AAB47091,AAB94556,AAN01278,AAH74784,AAH74785,AAA97872,AAA97873,CAA89066,P47900 Hs.654526 GDB:677125 P2Y1 protein-coding 1343009 P2RY10 purinergic receptor P2Y, G-protein coupled, 10 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. Two alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. 1580863 15772651,15489334,12477932,11004484,10570953,9755289 27334 NM_014499,NM_198333,AF000545,AY275461,CH471104,Z82200,AK292138,AW294346,BC051875,BC095498,CD639881 NP_055314,NP_938147,AAB57836,AAP32293,EAW98594,EAW98595,BAF84827,AAH51875,AAH95498,O00398 Hs.296433 P2Y10 protein-coding 1346111 P2RY11 purinergic receptor P2Y, G-protein coupled, 11 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. 1580863 9405388,18056402,17824841,17338680,17135283,16926152,15489334,12477932,12077223,11690642,11278528,10947861,7566098 5032 NM_002566,AC020931,CH471106,AA310412,AF498921,AJ298334,AY449733,BC009877,BC073827 NP_002557,EAW84077,AAM18130,CAC29362,AAR18077,AAH73827,Q96G91 Hs.14468,Hs.655318 GDB:9863061 P2Y11 protein-coding 1354000 P2RY12 purinergic receptor P2Y, G-protein coupled, 12 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelets aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Two transcript variants encoding the same isoform have been identified for this gene. 633493,1580186,1580863,1580187,1580188,1580189 11196645,18485500,18278193,18213371,18175333,18004210,17995973,17803810,17707382,17337040,17127487,16840732,16837456,16804093,16769602,16581111,16405973,16236603,16185654,16181985,15968399,15933261,15886804,15869601,15795539,15665114,15602005,15514209,15489334,15483100,15464998,15304052,15284110,15203713,15187029,15142872,15099288,14717977,14662702,14645014,14644082,12912815,12668663,12623443,12606772,12578987,12560222,12477932,12080041,12044878,11502873,11502870,11104774,8554519 633493,1580186,1580187,1580188,1580189 64805 NM_022788,NM_176876,AB083596,AC024886,AF310685,CH471052,AB052684,AF313449,AF321815,AJ320495,AK292096,AY136754,BC017898,BM926255 NP_073625,NP_795345,BAB89309,AAL32292,EAW78803,EAW78804,BAB60824,AAG48944,AAK00948,CAC87144,BAF84785,AAN01280,AAH17898,Q9H244,ABM84112,ABM87505 Hs.591281 ADPG-R|HORK3|P2T(AC)|P2Y(AC)|P2Y(ADP)|P2Y(cyc)|P2Y12|SP1999 protein-coding 1602708 P2RY13 purinergic receptor P2Y, G-protein coupled, 13 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. Two transcript variants encoding the same protein have been identified for this gene. 12477932,12044878,11961076,11574155,11546776,11273702 53829 NM_176894,NM_023914,AB083597,AC024886,AF411113,CH471052,CS173029,AF178982,AF295368,AF345565,AF406692,BC029363,BC041116,BC066887 NP_795713,NP_076403,BAB89310,AAL26484,EAW78805,EAW78806,EAW78807,CAJ33696,AAK18752,AAK01864,AAK29068,AAL01038,AAH29363,AAH41116,AAH66887,Q6DKN4,Q9BPV8,Q9BY61 Hs.546396 FKSG77|GPCR1|GPR86|GPR94|P2Y13|SP174 protein-coding 1347256 P2RY14 purinergic receptor P2Y, G-protein coupled, 14 The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. 1580863 10753868,17088057,17016747,16820147,16475938,16263727,16257449,16109883,15829433,15489334,15481977,14559350,12902497,12842911,12695547,12559763,12477932,12369950,11524702,11273702,10704288,9295203,8011297,7584028,7584026 9934 NM_014879,NM_001081455,AC078816,AF456925,CH471052,CS173021,AK289617,BC034989,CD110153,D13626,EF577400 NP_055694,NP_001074924,AAL47764,EAW78809,EAW78810,CAJ33692,BAF82306,AAH34989,BAA02791,ABQ52420,Q15391 Hs.2465 GPR105|KIAA0001|P2Y14 protein-coding 1352486 P2RY2 purinergic receptor P2Y, G-protein coupled, 2 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to both adenosine and uridine nucleotides. It may participate in control of the cell cycle of endometrial carcinoma cells. Three transcript variants encoding the same protein have been identified for this gene. 1580863 8159738,17609252,17599409,17452627,17186500,17170310,17137217,16741950,16545868,16543499,16495779,16311903,16186116,15908695,15778502,15590415,15489334,15175347,14670955,14645014,14613890,12880424,12787128,12714597,12691958,12603858,12477932,11690642,11331301,10770202,9535005,9489506,9286708,9211988,8643996,8248130,7809171,16189514,7779087 5029 NM_176072,NM_002564,NM_176071,AP002761,CH471076,AY136753,BC012104,BC028135,U07225 NP_788086,NP_002555,NP_788085,EAW74882,EAW74883,EAW74884,AAN01279,AAH12104,AAH28135,AAC04923,P41231,ABM83184,ABM86386 Hs.339 GDB:362713 HP2U|MGC20088|MGC40010|P2RU1|P2U|P2U1|P2UR|P2Y2|P2Y2R protein-coding 731552 P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. 1580863 8537336,8537335,15772651,15649700,15489334,14670966,12623123,12603858,12477932,12130504,11690642,11290369,11114308,9535005,9268704,8700127,8617367 5030 NM_002565,AL357752,CH471132,CQ859820,U40223,X91852,X96597,BC095503,BC096067,BC096068,BC096069,BC096070 NP_002556,CAI41492,EAX05352,CAH25959,AAC50347,CAA62963,CAA65415,AAH95503,AAH96067,AAH96068,AAH96069,AAH96070,P51582 Hs.673854 GDB:3778136 NRU|P2P|P2Y4|UNR protein-coding 1349646 P2RY5 purinergic receptor P2Y, G-protein coupled, 5 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. 1580863 18297072,18297070,15582581,15489334,15057823,14702039,12477932,11004484,9755289,9373149,9240460,8889552,8125298,7902321 10161 AF551763,AL392048,CH471075,L78805,AF000546,AK122856,AK123059,AK223389,BC039373,BC040850,BC045651,BC054346,BC070295,BC106756,NM_005767,BQ006077,BX537392,BX537438,BX537445,BX647109,CR597194 NP_005758,AAN64134,EAX08796,EAX08797,AAL40065,AAB62190,BAD97109,AAH40850,AAH45651,AAH70295,AAI06757,CAD97634,CAD97680,CAD97687,P43657,Q53FA0 Hs.123464 LAH3|MGC120358|P2Y5 protein-coding 736435 P2RY6 pyrimidinergic receptor P2Y, G-protein coupled, 6 The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. Four transcript variants encoding the same isoform have been identified for this gene. 1580863 15796906,15498874,8670200,17762175,16543499,16322472,15489334,12716436,12691958,12623123,12477932,12464620,11788430,11690642,11114308,9542531,9412455,9286708,9268704 5031 NM_176796,NM_176797,NM_176798,NM_004154,AP002761,CH471076,AF007891,AF007892,AF007893,AF218005,AF498920,AL520218,BC000571,BC009391,BT006771,CR597500,CR598708,CR598765,CR605588,CR606834,CR612681,CR614658,CR617080,CR618945,CR626266,CR626706,CR626754,U52464,X97058 NP_789766,NP_789767,NP_789768,NP_004145,EAW74886,EAW74887,EAW74888,EAW74889,EAW74890,AAB80712,AAB80713,AAG17247,AAM18129,AAH00571,AAH09391,AAP35417,AAB03572,CAA65770,Q15077,ABM81686,ABM84534,ABM86072 Hs.16362 GDB:5585712 MGC15335|P2Y6 protein-coding 1350225 P2RY8 purinergic receptor P2Y, G-protein coupled, 8 The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. 1580863 17554380,17487742,15772651,15489334,15466006,14702039,12477932,11004484 286530 NM_178129,AL683870,CH471074,AK092956,AL833184,BC012792,BC043610 NP_835230,EAW98683,AAH43610,Q86VZ1 Hs.111377 GDB:11508762 MGC50878|P2Y8 protein-coding 731788 P4HA1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 2543975,16885164,16877351,16837461,16488890,16464861,15489334,15369792,15164054,12477932,9417920,9373149,9211872,8125298,7961714,2556027 5033 NM_001017962,AL731563,CH471083,U14620,AA780802,AK222960,AL702003,BC034998,CR590114,M24486,M24487,NM_000917 NP_000908,NP_001017962,CAH72753,CAH72754,EAW54467,EAW54468,EAW54469,EAW54470,AAA59068,AAA59069,BAD96680,AAH34998,AAA36534,AAA36535,P13674,Q5VSQ6,ABM82595,ABM85781 Hs.500047 GDB:120257 4-PH alpha-1|P4HA protein-coding 1320142 P4HA2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 9211872,14667819,17213842,16917063,16885164,16877351,16344560,15489334,14500733,12824157,12477932,11606192,7753822 8974 NM_001017974,NM_004199,NM_001017973,AC034220,AC063976,AJ314859,CH471062,AU117989,AY358970,BC017062,BC025960,BC035813,BX647924,U90441 NP_001017974,NP_004190,NP_001017973,CAC85688,CAC85689,EAW62341,EAW62342,EAW62343,EAW62344,EAW62345,EAW62346,EAW62347,EAW62348,AAQ89329,AAH17062,AAH35813,CAI46066,AAB71339,O15460,Q05DA4,Q5HYD8,ABM83357,ABW03320 Hs.519568 GDB:9957989 protein-coding 1346978 P4HA3 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. 731224,1580863 16885164,14500733,12874193,12477932 731224 283208 NM_182904,AP001085,CH471076,AL833965,AY313448,AY327887,AY358521,BC040582,BC089446,BC117333,BC126170,CR602823 NP_878907,EAW74934,EAW74935,EAW74936,CAI46215,AAQ87603,AAP97874,AAQ88885,AAH89446,AAI17334,AAI26171,Q7Z4N8 Hs.660541 protein-coding 733481 P4HB procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. 1580863 7753822,17055437,17353931,2846539,15308636,12493773,3034602,14718574,17081065,16847061,16344560,16303743,16169070,15952740,15695804,15644496,15611098,15590633,15489334,15358778,15158710,14871477,14702039,14592831,14500733,12874193,12665801,12643545,12485997,12477932,12475965,1339453,1286669,16189514,12218052,12218051,12095988,11847130,11790298,11707400,11257307,11181151,10636893,10436013,10383197,10329688,9399589,9150948,8672469,8580850,8111381,3611107,3467900,3342239,3032969,2079031,1699755,1667665,1597478,1559965 5034 CR611495,CR620228,CR625953,DB466371,J02783,X05130,X07077,CR609355,NM_000918,AC137723,CH471099,M22806,S37207,AB062434,AK075503,AK095938,AK128783,AU131354,BC010859,BC014504,BC018801,BC029617,BC071892,BX353203,CA412209,CR592927,CR600518,CR602877,CR603259,CR605884,CR607735 AAA61169,CAA28775,CAA30112,P07237,Q8NI86,Q96C96,NP_000909,EAW89690,EAW89691,EAW89692,EAW89693,EAW89694,EAW89695,EAW89696,AAC13652,AAB22262,BAB93497,AAH10859,AAH14504,AAH29617,AAH71892 Hs.464336 GDB:120708 DSI|ERBA2L|GIT|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHB protein-coding 1625644 P53AIP1 p53-regulated apoptosis-inducing protein 1 11030628,15657359,15004724,14707453,12477932,12019168,11181995,15893728 63970 NM_022112,AP000920,CH881036,AB045830,AB045831,AB045832,AY302135,BC069399,BC069426,EF693749 NP_071395,EAW50498,EAW50499,EAW50500,BAB16421,BAB16422,BAB16423,AAP57627,AAH69399,AAH69426,ABS42982,Q9HCN2 Hs.160953 GDB:10013938 protein-coding 1606689 P76 mannose-6-phosphate protein p76 17105447,12477932 196463 NM_173542,AC010178,CH471054,BC002929,BC030618,BC071832 NP_775813,EAW98052,EAW98053,AAH30618,Q8NHP8 Hs.115896 protein-coding 1354307 PA2G4 proliferation-associated 2G4, 38kDa This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. 1580863 7556453,17951246,17768350,17765895,17641068,17316401,17295834,17081983,16964243,16832058,16642037,16631606,16396631,15994225,15635413,15489334,12682367,12477932,12429849,12165860,11790298,11708806,10797306,10682683,9345902,8889548,10608806,16189514,9565586,11268000,11325528,15064750,15231747,15583694,16254079,17353931,15073182 5036 AC034102,AF104670,CH471054,AK291796,BC001951,BC007561,BC019222,BC032111,BC069786,BC072007,BU683753,CR591089,CR591363,CR594814,NM_006191,CR595504,CR596507,CR599033,CR599146,CR599405,CR600047,CR605768,CR605970,CR607689,CR608383,CR609145,CR613688,CR616985,CR619236,CR619364,CR619712,CR622387,CR624134,CR625081,U50137,U59435,U87954 NP_006182,AAD05561,EAW96884,EAW96885,BAF84485,AAH01951,AAH07561,AAH19222,AAH32111,AAH69786,AAH72007,AAA91484,AAB91536,AAD00646,Q05D08,Q13548,Q6PIN5,Q9UQ80,ABM84372,ABM87750 Hs.524498,Hs.573018 GDB:4559298 EBP1|HG4-1|p38-2G4 protein-coding 1348998 PA2G4P proliferation-associated 2G4 pseudogene 9847074,9345902 389884 NG_005879,AC008162 GDB:4559299 pseudo 1352283 PA2G4P2 proliferation-associated 2G4 pseudogene 2 9345902 170533 NG_001046,AL136460 GDB:11507358 PA2G4L5|bA102J14.2 pseudo 1605750 PA2G4P3 proliferation-associated 2G4 pseudogene 3 9345902 619212 NG_005881,AC068408 HsT2542|PA2G4L4 pseudo 1604410 PA2G4P4 proliferation-associated 2G4 pseudogene 4 9345902 647033 NR_003284,AC106708,AK025367 Hs.573018 PA2G4L1 pseudo 1604918 PA2G4P5 proliferation-associated 2G4 pseudogene 5 9345902 389424 NG_005878,AL358942 PA2G4L2 pseudo 1603420 PA2G4P6 proliferation-associated 2G4 pseudogene 6 9345902 646083 NG_005882,AL590233 PA2G4L3 pseudo 1602098 PAAF1 proteasomal ATPase-associated factor 1 17353931,17317272,17289585,15831487,15489334,14702039,12477932,9373149,8125298 80227 NM_025155,AP002770,CH471076,AF087895,AK021910,AK222501,AK225520,BC006142,BC021541,BC028628,BC028677,BC045774,CR608221,CR621285,CR623159 NP_079431,EAW74917,EAW74918,EAW74919,AAP97194,BAB13933,BAD96221,AAH06142,AAH21541,AAH28628,Q9BRP4 Hs.525017 FLJ11848|PAAF|Rpn14|WDR71 protein-coding 1349848 PABPC1 poly(A) binding protein, cytoplasmic 1 The poly(A)-binding protein (PABP), which is found complexed to the 3-prime poly(A) tail of eukaryotic mRNA, is required for poly(A) shortening and translation initiation. In humans, the PABPs comprise a small nuclear isoform and a conserved gene family that displays at least 3 functional proteins: PABP1 (PABPC1), inducible PABP (iPABP, or PABPC4; MIM 603407), and PABP3 (PABPC3; MIM 604680). In addition, there are at least 4 pseudogenes, PABPCP1 to PABPCP4.[supplied by OMIM] 1580863 9548260,8657127,8057425,7908267,16703665,16594896,18056425,12723973,14583602,15082755,17353931,14559993,2885805,15663938,11997512,9582337,12588972,18230761,17785442,17595167,17212783,17150895,16869712,16782705,16716377,16465428,16356927,16332685,15831480,15782174,15592455,15489334,15314026,14739600,14702039,12565831,12489690,12477932,12388589,11991638,11850402,11704675,11438674,11328870,11274152,11172725,11051545,10543404,10499800,10358005,10205060,9880551,9857202 26986 AP001205,CH471060,U68104,AK095194,AK130523,AL135187,BC015958,BC023217,BC023520,BC041863,Y00345,Z48501,NM_002568 EAW91814,EAW91815,EAW91816,EAW91817,EAW91818,EAW91819,EAW91820,EAW91821,AAD08718,AAH15958,AAH23520,AAH41863,CAA68428,NP_002559,CAA88401,P11940,ABM84434,ABM87499 Hs.387804 GDB:11498867 PAB1|PABP|PABP1|PABPC2|PABPL1 protein-coding 1346773 PABPC1L poly(A) binding protein, cytoplasmic 1-like 11549316,14702039,12477932,11780052 80336 XM_001130728,XM_001131956,XM_001722078,NM_001124756,AL008725,AL109839,CH471077,AK021902,AK026760,AK055371,AK124047,BC039151,BC068104 XP_001130728,XP_001131956,XP_001722130,NP_001118228,CAI95662,CAI95663,CAI95631,CAI95632,CAI95635,CAI95637,CAI95638,CAI95639,EAW75892,Q4VXT3,Q4VXT4,Q4VXT5,Q4VXT6,Q4VXT8,Q4VXU1,Q4VXU2 Hs.641481 GDB:11504929 C20orf119|FLJ11840|FLJ30809|FLJ42053|PABPC1L1|dJ1069P2.3 protein-coding 1603498 PABPC1L2A poly(A) binding protein, cytoplasmic 1-like 2A 12477932 340529 NM_001012977,AL662864,AY730282 NP_001012995,CAI40931,Q5JQF8 Hs.450320 RBM32A|RP11-493K23.3 protein-coding 1642212 PABPC1L2B poly(A) binding protein, cytoplasmic 1-like 2B 12477932 645974 NM_001042506,AL662864,BC041956 NP_001035971,CAI40930,AAH41956,Q5JQF8 Hs.567854 RBM32B|RP11-493K23.2 protein-coding 1343398 PABPC3 poly(A) binding protein, cytoplasmic 3 Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM] 1580863 11328870,16201836,15489334,12477932,11230166,10543404,10358005,8432538 5042 NM_030979,AL359757,CH471075,DQ120640,AA954581,AF132026,AL136900,BC027617,BC045608,BG718483 NP_112241,CAH70805,EAX08360,ABB92425,AAG38953,CAB66834,AAH27617,AAH45608,Q2VIP3,Q3ZCS4,Q5VX58,Q9H361,ABM83029,ABM86223 Hs.458280 GDB:141634 PABP3|PABPL3 protein-coding 1312792 PABPC4 poly(A) binding protein, cytoplasmic 4 (inducible form) Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. 1580863 8524242,11369516,15231747,17353931,9030741,15782174,15592455,15489334,15383276,15231748,14702039,14559993,12477932,10543404,10358005,9373149,8125298 8761 NM_003819,AL365277,AL845289,CH471059,AB208962,AK091110,AK222917,BC029969,BC065540,BC071591,BC094755,BC106908,BC118568,D12799,U33818,U75686 NP_003810,CAI12298,CAI12299,CAI12300,CAI12301,EAX07261,EAX07262,EAX07263,EAX07264,EAX07265,EAX07266,EAX07267,EAX07268,BAD92199,BAD96637,AAH65540,AAH71591,AAH94755,AAI06909,AAI18569,BAA02244,AAC50350,AAB97309,Q13310,Q147Y3,Q15164,Q3B867,Q53GL4,Q59GZ7,Q5SPS3,Q5SPS4,Q5SPS5,Q5SPS6,Q5T3B0,Q5T3B4,Q6IQ30 Hs.169900 GDB:9956853 APP-1|APP1|PABP4|iPABP protein-coding 2290032 PABPC4L poly(A) binding protein, cytoplasmic 4-like 11181995 132430 NR_003550,NM_001114734,AC015631,CH471056,AY672099,BX648831 NP_001108206,EAX05149 Hs.49889 DKFZp686J06116 protein-coding 1348533 PABPC5 poly(A) binding protein, cytoplasmic 5 1580863 15772651,15489334,12477932,11374897 140886 NM_080832,AJ278963,AL662874,CH471115,AK290105,AL122118,BC063113 NP_543022,CAC42826,CAI41475,CAI41476,EAX02776,BAF82794,CAB59276,AAH63113,Q5JQF3,Q96DU9 Hs.246590 GDB:11507360 PABP5 protein-coding 1350393 PABPCP1 poly(A) binding protein, cytoplasmic, pseudogene 1 10543404,9880551 26980 NG_001268,AC098591,U64662 GDB:11500977 PABP1 pseudo 1344918 PABPCP2 poly(A) binding protein, cytoplasmic, pseudogene 2 12477932,11890856,11328870,11003790,10543404,9880551 26979 NG_001267,U60801 Q6NV95 GDB:11500980 PABP2 pseudo 1347145 PABPCP3 poly(A) binding protein, cytoplasmic, pseudogene 3 10543404,9880551 26978 NG_001266,AL513007,U64661 GDB:10795691 PABP3 pseudo 1346024 PABPCP4 poly(A) binding protein, cytoplasmic, pseudogene 4 10543404 26977 GDB:10795692 1346023 PABPL1 poly(A) binding protein-like 1 285314 Q9NTZ0 GDB:134733 1349754 PABPL2 poly(A) binding protein-like 2 8432538 5041 GDB:141633 1345820 PABPN1 poly(A) binding protein, nuclear 1 This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails on the 3' ends of eukaryotic genes and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. An expansion of the trinucleotide (GCG) repeat from normal 6 to 8-13 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed. 9462747,15169763,12226669,10205180,18343218,18178579,17418585,17229142,17005403,16860991,16378590,16239242,16101680,15755680,15694141,15489334,15121898,14663186,12945950,12673802,12477932,11689481,11371506,11222452,11001936,10688363,10543404,10358005,10224081,7795598,11850402,15725589 8106 NM_004643,AF026029,AL049829,CH471078,BC010939,BX247976,CR591896,CR592559,CR613466,CR613703,CR615102,CR618592 NP_004634,AAC39596,EAW66167,EAW66168,AAH10939,CAD62310,Q12925,Q86U42 Hs.410026 GDB:567135 OPMD|PAB2|PABP2 protein-coding 1344422 PABX pseudoautosomal boundary region, X-linked 5043 GDB:120258 1346911 PABY pseudoautosomal boundary region, Y-linked 5044 GDB:120259 1352616 PACRG PARK2 co-regulated This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. 17722288,17590346,17068781,16973374,16391553,16287063,15925106,15489334,15301585,14743368,14737177,14702039,14574404,14532270,12577057,12547187,12477932,11181995 135138 NM_152410,NM_001080378,NM_001080379,AL031121,AL078585,AL137182,AL354942,AL590286,AL603788,AP001576,CH471051,AF546872,AK057286,BC030642,BC044227,BK001670 NP_689623,NP_001073847,NP_001073848,CAI21557,CAI16054,EAW47563,EAW47564,EAW47565,EAW47566,AAN37911,BAB71410,AAH30642,AAH44227,DAA02134,Q96M98 Hs.25791 FLJ32724|GLUP|HAK005771|PARK2CRG|RP3-495O10.2 protein-coding 735286 PACS1 phosphofurin acidic cluster sorting protein 1 This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. 1580863 10707087,15569716,16977309,16308564,15692563,15489334,15302935,14702039,14633983,14608369,12855553,12526811,12477932,11331585,10574461,9695949,15638726,14965316,11463741,12414957 55690 NM_018026,AP000759,AP000822,AP006287,CH471076,AB033001,AK001071,AK056361,AK096644,AK098336,AL137271,AY320283,BC003173,BC009936,BC010096,BC042909,BC052577,BC055288,CR608717,CR617326 NP_060496,EAW74502,EAW74503,EAW74504,EAW74505,EAW74506,BAA86489,BAA91491,BAB71164,BAC04831,CAB70669,AAQ67682,AAH03173,AAH09936,AAH10096,AAH52577,AAH55288,Q6VY07,Q9NTH2 Hs.644326 FLJ10209|KIAA1175 protein-coding 1604046 PACS2 phosphofurin acidic cluster sorting protein 2 16344560,15692567,15692563,15489334,15302935,12477932,9628581 23241 NM_001100913,NM_015197,AL512355,AL928654,CH471061,AB011174,AB029326,AB072449,AK098354,AL539052,AY320284,BC010663,BC028418,BC050351,BC065220,BC131591,BU944012,CR609884,CR619350,DA275449,DA408379,DA491365 NP_001094383,NP_056012,EAW81915,EAW81917,BAA25528,BAB87116,BAB88325,BAC05290,AAQ83882,AAH10663,AAH50351,AAH65220,AAI31592,Q86VP3,Q8N7J0,Q8TDX4,Q8TDZ8 Hs.525626 FLJ25488|KIAA0602|PACS1L protein-coding 736787 PACSIN1 protein kinase C and casein kinase substrate in neurons 1 1580863 16627472,16381901,16189514,15489336,15489334,12477932,12354780,12168954,11352907,11292345,11230166,11179684,11082044,11076863,10718198,9950691,15252009 29993 BX255972,CH471081,AB037800,AF242529,AK289956,AL834211,BC040228,BC128219,CR612772,NM_020804 NP_065855,CAH73102,CAH73103,EAX03785,EAX03786,EAX03787,BAA92617,AAK29206,BAF82645,CAD38895,AAH40228,AAI28220,Q5TZC2,Q5TZC3,Q9BY11,CAL38387,ABM83404,ABM86615 Hs.520087 GDB:10796045 KIAA1379|SDPI protein-coding 69456 PACSIN2 protein kinase C and casein kinase substrate in neurons 2 1580863 10431838,17081983,16627472,16551695,16189514,15489334,15461802,12477932,12023017,11230166,11179684,11082044,10591208,9110174,8619474 11252 CR621878,NM_007229,AL022476,AL049758,CH471138,AF128536,AL136845,AL389984,AY007086,BC008037,CR456536,CR533523,CR600313 Q6FIA3,Q9UNF0,CAK54567,CAK54866,ABM83837,ABM87160,NP_009160,CAI20163,CAI20948,EAW73277,EAW73278,AAD41781,CAB66779,CAB97538,AAH08037,CAG30422,CAG38554 Hs.162877 GDB:9957556 SDPII protein-coding 1316456 PACSIN3 protein kinase C and casein kinase substrate in neurons 3 1580863 10531379,17081983,16627472,15719014,15489334,14702039,14679214,12952982,12477932,11179684,11082044,17353931 29763 NM_016223,AC090589,CH471064,AF130979,AF149825,AF242530,AK000577,BC007914,BC011889,CR595171,CR600161,CR601247,CR606050,CR613894,CR624285 NP_057307,EAW67960,EAW67961,EAW67962,AAF04472,AAG31023,AAK29207,BAA91267,AAH07914,AAH11889,Q9UKS6,ABM84082,ABM87449 Hs.334639 GDB:10796046 SDPIII protein-coding 1344006 PADI1 peptidyl arginine deiminase, type I This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. 1580863 17851584,16973334,16710414,16091842,15675958,15150696,15087120,14702039,14579251,12477932,12416996,9373149,8125298 29943 NM_013358,AJ549502,AL590644,CH471134,AB033768,AK026652,AK127515,AK225541,BC130574 NP_037490,CAE47741,EAW94833,BAA85771,AAI30575,Q9ULC6 Hs.412941 GDB:11507362 HPAD10|PAD1|PDI|PDI1 protein-coding 1348232 PADI2 peptidyl arginine deiminase, type II This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. 69925,1580863 14579251,12477932,12392711,17968929,17469138,17031564,16973334,16723463,16710414,15704193,15629448,15555572,15087120,11181995,10231032,2768262 69925 11240 AB030176,AK123164,AK127006,BC009701,NM_007365,AJ549502,AL049569,CH471134,AB023211 BAA82557,BAC85545,AAH09701,Q6ZWF8,Q96DA7,Q9Y2J8,NP_031391,CAE47740,CAB96821,CAI20362,EAW94830,EAW94831,BAA76838 Hs.33455 GDB:9957514 KIAA0994|PAD-H19|PAD2|PDI2 protein-coding 732756 PADI3 peptidyl arginine deiminase, type III This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. 1580863 10092850,18083705,16973334,16710414,16671893,16091842,15675958,15489334,15150696,15087120,14579251,12477932,11181995,11069618 51702 NM_016233,AJ549502,AL590644,CH471134,AB026831,BC041592,BC109091,BC109092 NP_057317,CAE47742,EAW94834,BAA85974,AAH41592,AAI09092,AAI09093,Q9ULW8 Hs.149195 GDB:11504537 MGC126307|MGC126308|PAD3|PDI3 peptidyl arginine deiminase, type 3 protein-coding 1348860 PADI4 peptidyl arginine deiminase, type IV This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. 1580863 10488123,18466513,18466472,18462498,18292109,18087673,17980669,17968929,17888206,17868046,17469103,17265154,17216583,16828881,16710414,16567635,16519819,16502257,16469113,16449362,16385500,16380915,16355400,16200584,16060666,15998632,15883854,15814578,15731352,15731287,15629448,15489334,15345777,15339660,15338034,15247907,15087120,15077293,12833157,12477932,12393868,11435484,11042152 23569 AC004824,AJ549502,AJ715932,AJ715933,AJ715934,AJ715935,AJ715936,AJ715937,NM_012387,AJ715938,AJ966355,AL138798,AL590644,CH471134,AB017919,AF229067,AK290507,BC025718 NP_036519,CAE47743,CAG30581,CAG30582,CAG30583,CAG30584,CAG30585,CAG30586,CAG30587,CAI84651,EAW94835,EAW94836,BAA84542,AAF82265,BAF83196,AAH25718,Q53HY9,Q5VTZ7,Q6EVJ1,Q6EVJ2,Q6EVJ4,Q6EVJ5,Q6EVJ6,Q6EVJ7,Q9NRE8,Q9UM07 Hs.522969 GDB:11508959 PAD|PAD4|PADI5|PDI4|PDI5 protein-coding 1354366 PADI6 peptidyl arginine deiminase, type VI Peptidylarginine deiminases (PADs, EC 3.5.3.15), including PADI6, make up a family of posttranslational protein modification enzymes that convert arginine residues to citrulline residues in the presence of calcium ions.[supplied by OMIM] 15625577,15087120,14579251 353238 CH471134,AY422079,AY443100,NM_207421,AC004824,AJ549502 CAD70706,EAW94837,AAR38850,AAS07634,Q330K5,Q6TGC4,AAI48642,AAI53198,NP_997304 Hs.531598 protein-coding 1347038 PAEP progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial alpha-2-globulin, alpha uterine protein) This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. A number of alternatively spliced transcript variants have been observed at this locus, but the full-length nature of only two, each encoding the same protein, has been determined. 1580863 9274854,17132480,17070198,17068141,17049713,16759928,16647384,16325596,16269626,16169070,16123169,15883155,15527767,15494501,15489334,15164053,15016783,14973265,14764802,14702039,14679205,17148576,11818517,11278680,11058757,11058744,11023837,9591048,9239694,9166287,8943270,8452641,8025274,7829063,7592613,7047733,6776278,3768286,3667877,3569148,3320533,3135704,2975952,2380618,2206398,2113930,2016092,2006183,12826085,12672671,12654469,12556471,12477932,12351556,12202458,11884441,3194393,17720699,17716661,17649816,17570010,17482165,17329396,17156191 5047 NM_001018049,NM_002571,AL354761,CH471090,M34046,BC069451,BC069562,BC112304,BC113728,CR598196,CR606504,DQ884407,J04129,M61886 NP_001018059,NP_002562,CAI17197,CAI17198,CAI17199,CAI17200,CAI17201,EAW88163,EAW88164,EAW88165,EAW88166,EAW88167,EAW88168,AAA60148,AAH69451,AAH69562,AAI12305,AAI13729,ABI63374,AAA60147,AAA35801,AAA35802,P09466,Q5T6T4,Q5T6T5,Q5T6T6 Hs.532325 GDB:127516 GD|GdA|GdF|GdS|MGC138509|MGC142288|PAEG|PEP|PP14 protein-coding 1607027 PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) PAF1, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and CTR9 (MIM 609366) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]). The PAF complex also has a role in histone monoubiquitination (Zhu et al., 2005 [PubMed 16307923]).[supplied by OMIM] 16491129,16307923,15632063,14702039,12477932 54623 NM_019088,AC005239,CH471126,AF086555,AJ401156,AK001985,AK098423,BC000017,BC013402,CR599585,CR604612,CR604698,CR616137 NP_061961,AAC25503,EAW56880,EAW56881,EAW56882,EAW56883,CAC20564,BAA92020,BAC05305,AAH00017,AAH13402,Q8N7H5,ABM82765,ABM85952 Hs.466714 F23149_1|FLJ11123|PD2 protein-coding 1349260 PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. PAFAH1B1 encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. 1601499,1580863 9063735,11056532,11940666,8355785,18431085,17850624,17664403,17018134,16806233,16766276,16761416,16689754,16642511,16549273,16411107,16258276,16144905,16138011,16086290,16027700,15762842,15698475,15489334,15173193,15081260,15057976,15007136,14970193,14962739,14733918,14584027,14581661,14578885,12885786,12556484,12496397,12477932,12185771,12110797,11916011,11803439,11734602,11502906,11294621,11163260,11163258,10727864,10491172,10441340,9626899,9601647,9384577,9218411,9131135,9044400,8586424,8028668,7573359,12796778,11001923,11889140 1601499 5048 NM_000430,AC005696,AC015799,CH471108,U72342,AF208835,AF208836,AF208837,AF208838,AF400434,BC064638,BX538346,CR594061,CR599910,CR608859,CR622803,CR624292,L13385,L13386,L13387,L13388,L25107,S81396 NP_000421,EAW90536,AAC51111,AAL34972,AAL34973,AAK92483,AAH64638,CAD98141,AAA02880,AAA02881,AAA02882,P43034 Hs.77318 GDB:677430 LIS1|LIS2|MDCR|MDS|PAFAH protein-coding 733676 PAFAH1B2 platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa 16130169,18155631,17849047,16169070,15489334,14718574,12477932,11522926,10727864,9693049,9144386,8954729,16189514 5049 NM_002572,AP005018,CH471065,EF445007,AK292973,BC000398,BC001774,BC019301,BC039721,CR456736,CR603284,D63390,DQ836738,DQ836739,DQ836740,DQ836741,DQ836742,DQ836743 NP_002563,EAW67281,EAW67282,ACA06040,BAF85662,AAH00398,AAH01774,AAH19301,CAG33017,BAA19917,ABI58225,ABI58226,ABI58227,ABI58228,ABI58229,ABI58230,P68402,Q6IBR6,Q9BUZ1 Hs.696131 GDB:6393949 protein-coding 732942 PAFAH1B3 platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa 1580863 16189514,7669037,16236267,16169070,15489334,15057824,12477932,11522926,10727864,9693049,14733918 5050 NM_002573,AC006486,CH471126,BC003016,BC007863,CR407626,CR615853,D63391 NP_002564,AAD11989,EAW57122,EAW57123,EAW57124,EAW57125,EAW57126,AAH03016,AAH07863,CAG28554,BAA09706,Q15102,Q53X88 Hs.466831 GDB:9835798 protein-coding 1347844 PAFAH1P1 platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 1 10575211 7845 NG_003165,AC133644,AF092544 GDB:435099 LIS2 pseudo 1350191 PAFAH1P2 platelet-activating factor acetylhydrolase, isoform Ib, pseudogene 2 10575211 27002 NG_003167,AC068491,AF092545 GDB:10795694 LIS2P pseudo 1349698 PAFAH2 platelet-activating factor acetylhydrolase 2, 40kDa This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. 1302298,1580863 8955149,17272759,17157859,16650870,15489334,12477932,12406338,11294621,9494101,9218411 1302298 5051 CH471059,BC001158,BU630496,CR597579,D87845,U89386,NM_000437,AL592064 CAI10972,EAX07852,EAX07853,AAH01158,BAA13468,AAC39707,Q5SY00,Q5SY01,Q5SY02,Q99487,ABM83722,ABM87042,NP_000428,CAI10970,CAI10971 Hs.477083 GDB:6099612 FLJ26025|HSD-PLA2 protein-coding 1603638 PAG1 phosphoprotein associated with glycosphingolipid microdomains 1 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. 10790433,14665621,18056706,17389760,17143285,16947079,16636672,16160011,15489334,14702039,12477932,11684085,9334312 55824 NM_018440,AC012533,AC022778,AC079209,CH471068,AA766638,AF240634,AK000680,AK095177,AK289818,BC090931,BC112159,BX426120,CB960651 NP_060910,EAW87085,EAW87086,AAF67343,BAA91321,BAC04494,BAF82507,AAH90931,AAI12160,Q8N9B6,Q9NWQ8 Hs.266175 CBP|FLJ37858|MGC138364|PAG protein-coding 1344360 PAGE1 P antigen family, member 1 (prostate associated) This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this protein. 9651357,15489334,12477932,10397259,9724777,7544395 8712 NM_003785,AC142496,CH471180,AF058989,BC004861,BU941413,CR542084 NP_003776,EAW89934,EAW89935,AAC25990,AAH04861,CAG46881,O75459,ABM84308,ABM87701 Hs.128231 GDB:9956718 GAGE-9|GAGEB1|PAGE-1 protein-coding 1604971 PAGE2 P antigen family, member 2 (prostate associated) 15489334,15164054,12477932,9724777 203569 NM_207339,AL590240,BC054022 NP_997222,CAI39878,CAI39879,CAI39880,AAH54022,Q7Z2X7 Hs.662489 GAGEC2|GAGEE2|MGC62094|PAGE-2 protein-coding 1603822 PAGE2B P antigen family, member 2B 15772651 389860 NM_001015038,AL590240,AX972928,BC130359 NP_001015038,CAI39876,CAI39877,CAF18036,AAI30360,Q5JRK9,Q5JRL0 Hs.293317 GAGEE3 protein-coding 1343229 PAGE3 P antigen family, member 3 (prostate associated) 15772651,9724777 139793 NM_001017931,XM_001714623,AL158819,CH471154,BC140001 NP_001017931,XP_001714675,CAI40488,EAW93220,AAI40002,Q5JUK9,AAI40053 Hs.163473 GDB:9957205 GAGED1|PAGE-3 protein-coding 1346380 PAGE4 P antigen family, member 4 (prostate associated) This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer, but is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. 15772651,15489334,15362791,14702039,12489849,12477932,9724777 9506 NM_007003,AF238380,CH471180,AF275258,AJ005894,AK092503,BC010897,BG622311,CR456823,CR542183,CR601744,CR624477 NP_008934,EAW89932,EAW89933,AAF88037,CAA06751,BAC03907,AAH10897,CAG33104,CAG46980,O60829,Q8NAK5,ABM83634,ABM86886 Hs.441038 GDB:9957207 FLJ35184|GAGE-9|GAGEC1|JM27|PAGE-1|PAGE-4 protein-coding 1604258 PAGE5 P antigen family, member 5 (prostate associated) This gene is a member of the GAGE family, which is expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. It may also belong to a family of CT (cancer-testis) antigens. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants have not been determined. 15772651,15489334,12477932,11992404 90737 NM_130467,NM_001013435,AL158819,CH471154,AJ344352,BC009230,BC110803,BQ437151 NP_569734,NP_001013453,CAI40485,CAI40486,CAI40487,EAW93219,CAC87642,AAH09230,AAI10804,Q2NL97,Q5JUL0,Q5JUL1,Q96GU1 Hs.668491 GAGEE1|PAGE-5 protein-coding 735410 PAH phenylalanine hydroxylase PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. 1358249,1601521,1601523,1601526,1580863,1300048 3856322,18447256,18374504,18184144,17924342,17633563,17630668,17627389,17557229,17502162,17096675,16935936,16917891,16765994,16755493,12210276,12200907,12185072,12173030,12126628,12096915,12056888,11935335,11855940,11718561,11708866,11678552,11524738,11461196,11385716,11326337,11214902,11180595,11172645,10784452,10694386,10679941,10472529,10200057,16545551,16402341,16256386,15917086,15730960,15556637,15489334,15464430,15459954,15313177,15300621,15192831,15135070,15060071,14654659,14568534,12833401,12782966,12777691,12765842,12655552,12655548,12655546,12655545,12653545,12649065,12640344,12603331,12603326,12477932,12379147,9950317,9852673,9843368,9792411,9792407,9642259,9600453,9521426,9450897,9450182,9406548,9169088,9101291,9048935,9016524,8990013,8889590,8889583,8829656,8825461,8696344,8594560,8487271,8406445,8401510,8370573,8364546,8116675,8098245,8097261,8095248,8088845,8068076,7981714,7860062,7833954,7807961,7668259,7581408,3615198,3008810,2986678,2884570,2840952,2816939,2615649,2606484,2574002,2564729,2461704,2309142,2246858,2063869,2044609,2035532,2014802,2006152,1978553,1975559,1975096,1971147,1971144,1968617,1915502,1769645,1709636,1682495,1682235,1679030,1679029,1672294,1672290,1671881,1671810,1671770,1671768,1609797,1601425,1363838,1363837,1360590,1358789,1355066,1349576,1326329,1312992,1301947,1301202,1301201,1301200,1301193,1301187 1358249,1601521,1601523,1601526 5053 NM_000277,AC069227,AF404777,AY722625,CH471054,S83538,BC026251,CR599463,K03020,L47726,S61296,U49897 NP_000268,AAL78816,AAU11304,EAW97700,EAW97701,EAW97702,AAB50813,AAH26251,AAA60082,AAA80910,AAD13926,AAC51772,P00439,Q66RJ9,Q8TEY0 GDB:119470 PH|PKU|PKU1 protein-coding 1346725 PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 16169070,2253271,16964243,16501559,16189514,15489334,15146197,14702039,12477932,9108165,8106516,2183217,2075724,2004782,17353931,15680326 10606 BM807012,BT006988,CF994644,CN337183,CR593248,CR596825,CR600656,CR612955,CR620081,CR626713,CR749824,DB503040,X53793,NM_001079524,AC068620,AC114766,BX538303,CH471057,U00239,AA669362,NM_006452,NM_001079525,AK001163,AK054760,BC010273,BC019255 AAP35634,CAH18683,CAA37801,P22234,Q68CQ5,ABM92222,ABM83982,ABM84702,ABM87304,NP_001072993,NP_001072992,EAX05489,EAX05490,EAX05491,EAX05492,EAX05493,EAX05494,NP_006443,AAH10273,AAH19255 Hs.518774,Hs.705514 GDB:126721 ADE2|ADE2H1|AIRC|DKFZp781N1372|MGC1343|MGC5024|PAIS protein-coding 1351759 PAICSP1 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1 8106516 5060 GDB:313066 1343084 PAICSP2 phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2 8106516 5061 GDB:313069 1313834 PAIP1 poly(A) binding protein interacting protein 1 The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. 9548260,10970864,11997512,15489334,15252450,12477932,11287654,11230166,11172725,11051545 10605 NM_183323,NM_006451,NM_182789,AC114956,CH471119,AF013758,AL136920,BC005295,BC015937,BG430290,BG719757,CR594937,CR599012,CR600281,CR601652,CR607203,CR609051,CR609577,CR611090,CR614417,CR617943,CR623640,CR624807,CR625180,CR626272,DQ786248 NP_899152,NP_006442,NP_877590,EAW56067,EAW56068,EAW56069,EAW56070,AAC39697,CAB66854,AAH05295,AAH15937,Q9H074,ABM82036,ABW03359 Hs.482038 GDB:9957991 MGC12360 protein-coding 1354158 PAIP1P1 poly(A) binding protein interacting protein 1 pseudogene 1 387485 1312240 PAIP2 poly(A) binding protein interacting protein 2 1580863 11172725,16804161,16601676,16381901,15489336,15489334,15175342,12820898,12477932,11438674,11287632,11230166,11076863,11042152,8889548 51247 NM_016480,NM_001033112,AC011404,AC135457,CH471062,AF151052,AF317675,AK024552,AL136640,BC001716,BC039337,BC048106,BC062718,BI560379,BU732743,CR533489,CR592408,CR593605,CR600873,CR611769,CR626771 NP_057564,NP_001028284,EAW62107,EAW62108,EAW62109,EAW62110,EAW62111,EAW62112,AAF36138,AAK11562,CAB66575,AAH01716,AAH39337,AAH48106,AAH62718,CAG38520,Q49AE6,Q6FID7,Q9BPZ3,CAL38574 Hs.396644 MGC72018|PAIP2A protein-coding 1605487 PAIP2B poly(A) binding protein interacting protein 2B Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM] 16804161,17381337,16344560,10574461 400961 NM_020459,AC007878,AC007881,AC093654,CH471053,AB032981,AL110211,DA247526,DA346299 NP_065192,EAW99774,EAW99775,BAA86469,Q9ULR5,AAI56858 Hs.416735 KIAA1155 protein-coding 1346880 PAK1 p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast) PAK proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. These proteins serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK1 regulates cell motility and morphology. Alternative transcripts of this gene have been found, but their full-length natures have not yet been determined. 1580863 18392133,18354494,18314909,18160398,18006851,17981134,17911169,17621631,17609315,17491012,17486065,17420447,17355222,17255101,17018616,17012749,16964243,16845324,16800003,16705121,16611744,16490785,16449192,16407834,16246732,16204230,16033904,16026643,16002401,15893667,15864311,15849194,15833848,15831477,15824732,15784622,15761153,15749698,15684429,15611088,15561713,15556869,15542607,15489334,15378030,15345747,15333633,15324660,15225553,15169762,15161701,15059930,15047871,14970201,14749719,14707132,14702039,14694110,14607331,12624090,12879077,15350535,16278681,8805275,11864573,11804587,11733498,11719502,11604394,11557983,11397816,11382770,11371639,11340065,11278486,11278241,11157752,11134022,11030651,10995762,10975528,10967094,10938077,10805734,10772928,10652353,10611223,10559936,10551809,10461188,10358014,10330411,10330410,10205168,10092231,10026169,9852149,14580336,14579272,14530270,12937139,12912914,12887923,12887916,12855698,12606577,12560069,12551923,12531429,12522133,12477932,12453877,12374744,12237306,12198493,12154000,12151336,12138087,12089369,12085993,12011045,12006652,11956071,11950930,11950587,11948406,9823899,9774445,9774440,9705280,9659915,9533029,9528787,9395435,9351825,9298982,9234708,9032240,8824201,8107774,7744004,11463741,10559302,12009866,11689886,16091223,10713183,9792838,7797518,8939608,15638726,9371615,9070423,8862424,8709288,12734410,8709241,8108442,12650940,15193260,15975516,16025104,12944407,15735674,15735692,15688026,15652748,11748279 5058 NM_002576,AP000486,AP003680,CH471076,AF071884,AK055228,AK293098,BC050377,BC109298,BC109299,BE501896,BE502192,BM451179,U24152,U51120 NP_002567,EAW75026,EAW75027,EAW75028,EAW75029,AAC24716,BAF85787,AAI09300,AAA65441,AAC50590,Q13153 Hs.435714 GDB:9756986 MGC130000|MGC130001|PAKalpha protein-coding 1353310 PAK1IP1 PAK1 interacting protein 1 15489334,15302935,14702039,14574404,12477932,12429849,11371639,9373149,8125298 55003 NM_017906,AL358777,CH471087,AF283303,AK000631,AK225516,BC010907,BU618231 NP_060376,CAI14002,EAW55267,EAW55268,EAW55269,EAW55270,AAK57477,BAA91296,AAH10907,Q9NWT1,ABM83724,ABM87044 Hs.310231 FLJ20624|MAK11|PIP1|RP11-421M1.5|WDR84|bA421M1.5|hPIP1 protein-coding 732793 PAK2 p21 (CDKN1A)-activated kinase 2 The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. 729574,1579879,1580863 16837009,11805089,10748018,7744004,18176785,17881449,17555715,17543336,17081983,16979207,16964243,16867995,16617111,16501114,16281055,16204230,15908432,15489334,15471851,15252450,15234964,15194762,15187108,15047871,15047825,14749374,12907671,12853446,12829691,12823590,12549935,12477932,12453877,12237306,12226077,12215529,11956071,11943200,11895474,11345898,11160719,11121037,11070003,10607567,10461188,10320322,10200518,10075701,10047984,9786869,9535855,9395435,9151826,7673144,7618083,7556080,1985906,16282498,15847608,17077296,16916529,16912329,16687395,15638726,14965316,12734410,11463741,9075929,11448168,16272310,12855553,17353931 729574,1579879 5062 NM_002577,AC055725,AC127904,AI140979,AK291339,BC031667,BC046197,BC063539,BC069613,BG572555,CA445078,CR600384,CR624656,DQ786200,U24153,U25975 NP_002568,BAF84028,AAH69613,AAA65442,AAA75468,Q13177 Hs.518530 GDB:9837226 PAK65|PAKgamma protein-coding 731864 PAK3 p21 (CDKN1A)-activated kinase 3 PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. PAK proteins, a family of serine/threonine p21-activating kinases, serve as targets for the small GTP binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then catalyzes a variety of targets. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. A point mutation in this gene has been linked to nonsyndromic X-linked mental retardation. 1580863 8826460,8687195,14530271,9823899,9731525,9726964,9722579,9659915,9332663,9234708,9065412,16204230,15772651,15574732,15099969,14702039,12884430,12777533,12477932,12464619,12237306,11733498,11517222,11278553,11278486,11259591,11096073,10946356,10896954,10461188,10205168 5063 NM_002578,AB102251,AB102252,AB102253,AB102254,AB102255,AB102256,AB102257,AB102258,AB102259,AB102260,AB102261,AB102262,AB102263,AB102264,AB102265,AB102266,AB102267,AB102268,AB102269,AB102270,AB102281,AB102282,AB102283,AB102284,AB102285,AB102286,AB102287,AB102288,AB102289,AB102290,AB102291,AB102292,AB102293,AB102294,AB102295,AB102296,AB102297,AB102298,AB102299,AB102300,AL031117,AL117326,AL357774,CH471120,AB102659,AF068864,AF155651,AI298548,AK128022,AK290504,AM943850,AM943851,AM943852,BC117353,BC117355,BQ268758 NP_002569,BAC80750,BAC80751,BAC80752,BAC80753,BAC80754,BAC80755,BAC80756,BAC80757,BAC80758,BAC80759,BAC80760,BAC80761,BAC80762,BAC80763,BAC80764,BAC80765,BAC80766,BAC80767,BAC80768,BAC80769,BAC80780,BAC80781,BAC80782,BAC80783,BAC80784,BAC80785,BAC80786,BAC80787,BAC80788,BAC80789,BAC80790,BAC80791,BAC80792,BAC80793,BAC80794,BAC80795,BAC80796,BAC80797,BAC80798,BAC80799,CAI43157,CAI43158,EAX02653,EAX02654,BAC81128,AAC36097,AAF67008,BAF83193,CAQ16016,CAQ16017,CAQ16018,O75914,Q17RE5,AAI52762 Hs.656789 GDB:555549 CDKN1A|MRX30|MRX47|OPHN3|PAK3beta|bPAK|hPAK3 protein-coding 1317048 PAK4 p21(CDKN1A)-activated kinase 4 PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 17353931,9822598,17555715,17192257,17081983,16897755,16381901,16227624,16169070,15827085,15660133,15489336,15489334,15345747,15324660,14702039,14625312,12529371,12477932,12356872,11413130,11076863,10574461,10461188,15778465,16189514 10298 NM_001014831,NM_005884,NM_001014835,NM_001014832,NM_001014834,AC011443,CH471126,AB032968,AF005046,AJ011855,AK074728,AK291839,AL834236,BC002921,BC011368,BC025282,BC034511,BG773480,BM129363,CR591742,CR602156 NP_001014831,NP_005875,NP_001014835,NP_001014832,NP_001014834,EAW56858,EAW56859,EAW56860,EAW56861,EAW56862,EAW56863,EAW56864,EAW56865,EAW56866,BAA86456,AAD01210,CAA09820,BAC11166,BAF84528,CAD38914,AAH02921,AAH11368,AAH25282,AAH34511,O96013,Q0JV31,CAL37500,CAL37629,CAL38389,ABM81965,ABM85144 Hs.20447 GDB:9955883 protein-coding 1314703 PAK6 p21(CDKN1A)-activated kinase 6 This gene encodes a protein that shares a high degree of sequence similarity with p21-activated kinase (PAK) family members. The proteins of this family are Rac/Cdc42-associated Ste20-like Ser/Thr protein kinases, characterized by a highly conserved amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. PAK kinases are implicated in the regulation of a number of cellular processes, including cytoskeleton rearrangement, apoptosis and the MAP kinase signaling pathway. The protein encoded by this gene was found to interact with androgen receptor (AR), which is a steroid hormone-dependent transcription factor that is important for male sexual differentiation and development. The p21-activated protein kinase 6 gene was found to be highly expressed in testis and prostate tissues and the encoded protein was shown to cotranslocate into the nucleus with AR in response to androgen. 1580863 17353931,15550393,15489334,14573606,12860998,12477932,12032833,11773441,11278661,16189514 56924 AC020658,CH471125,CS300520,AF276893,AJ236915,AK131522,AK290227,AK315813,AK315817,BC035596,NM_020168 AAH35596,Q9NQU5,ABM83035,ABM86229,NP_064553,EAW92395,EAW92396,EAW92397,EAW92398,EAW92399,EAW92400,EAW92401,CAK32184,AAF82800,CAC18720,BAF82916,BAF98704,BAF98708 Hs.513645 GDB:11501061 PAK5 protein-coding 1323766 PAK7 p21(CDKN1A)-activated kinase 7 The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. 1580863 17353931,16581795,16189514,16014608,14702039,12897128,12477932,12032833,11950587,11780052,11756552,11733543,10880354,10837486,10574462,10521512,9381178 57144 AL133002,BC024179,CR595049,NM_020341,AL031652,AL031682,AL034427,AL135935,AL353612,CH471133,AB033090,AB040812,AK095674,AK291401,NM_177990 CAB61350,AAH24179,Q8TB93,Q9P286,Q9UJQ0,ABM81820,ABM84974,NP_817127,NP_065074,CAI42211,EAX10357,EAX10358,EAX10359,EAX10360,BAA86578,BAA94194,BAF84090 Hs.32539 GDB:11507364 KIAA1264|MGC26232|PAK5 protein-coding 1605949 PALB2 partner and localizer of BRCA2 This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. 18446436,18302019,18281473,18053174,17420451,17287723,17200672,17200671,17200668,16793542,16344560,15489334,15302935,14702039,12477932 79728 NM_024675,NG_007406,AC008870,CH471145,AK025469,AK097533,AL834425,BC044254,BE670820,BX647125,BX647130,CR749637,DA192828 NP_078951,EAW55811,EAW55812,EAW55813,BAB15140,BAC05090,CAD39086,AAH44254,CAH18431,Q86YC2 Hs.444664 DKFZp667I166|DKFZp686E1054|FANCN|FLJ21816 protein-coding 1604638 PALLD palladin, cytoskeletal associated protein Palladin is a component of actin-containing microfilaments that control cell shape, adhesion, and contraction.[supplied by OMIM] 16125169,11598191,18073581,17967605,17687002,17537434,17525332,17515952,17455999,17415588,17322171,17287340,17228136,17194196,17081983,16964243,16794588,16367745,16175505,15815621,15489334,15147863,14702039,12601173,12477932,12191018,11870593,11309420,10931874,10810093,10231032,1159819 23022 AY211921,BC013867,BC140850,BX537391,CR602630,AC079858,AC079926,AC080188,AC084353,AC115538,CH471056,AB023209,AF077041,AF151909,AF464873,AK000845,AK025843,AK095512,AK096458,AL050093,AW248292,NM_016081 AAO65174,AAH13867,AAI40851,CAD97633,Q4W5A6,Q7L8P5,Q8WX93,NP_057165,AAY40987,EAX04799,BAA76836,AAD27774,AAD34146,AAL69964,BAC04796,CAB43265 Hs.151220,Hs.707322 CGI-151|FLJ22190|FLJ38193|FLJ39139|KIAA0992|PNCA1|SIH002 protein-coding 1344376 PALM paralemmin This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. 724596,1580863 9813098,9615234,17081983,16386234,16344560,15489334,15342556,15146197,15057824,14978216,14702039,12477932,9039502,8889548 724596 5064 NM_001040134,AC004030,AC005763,CH471242,Y16270,Y16271,Y16272,Y16273,Y16274,Y16275,Y16276,Y16277,AK022919,BC019596,BC032449,BM667870,BP199809,BU508077,CN344023,CR604455,D87460,DA521203,Y14770,Y16278,NM_002579 NP_002570,NP_001035224,AAC62429,EAW61161,EAW61162,EAW61163,EAW61164,CAA76151,AAH19596,AAH32449,BAA13400,CAB37400,CAB37401,CAA76152,O75781,Q05CZ2 Hs.631841 GDB:6185972 KIAA0270 protein-coding 1350120 PALM2 paralemmin 2 1580863 15489334,15164053,14702039,12477932,11478809 114299 NM_053016,NM_001037293,AL135789,AL158829,AL353806,AL627225,CH471105,AJ312216,AK095003,BC039306 NP_443749,NP_001032370,CAI10810,CAI10812,CAI10813,EAW59053,CAC59693,BAC04472,AAH39306,Q5T719,Q5W120,Q8IXS6 Hs.591908 GDB:11501071 AKAP2 protein-coding 1603446 PALM2-AKAP2 PALM2-AKAP2 The PALM2-AKAP2 mRNA is a naturally occurring co-transcribed product of the neighboring PALM2 and AKAP2 genes. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms, but the full-length nature of some of these variants has not been defined. 17273791,12672969,12646697,11478809,10231032,9497389 445815 NM_147150,NM_007203,AL158823,AL158829,AL353598,AL353806,AL627225,CH471105,AB023137,AJ303079,AJ312217,AL110268,BX649126 NP_671492,NP_009134,CAI10811,EAW59057,BAA76764,CAC38839,CAC59702,CAB53707 Hs.591908 AKAP2|DKFZp686H1948 protein-coding 1313763 PALMD palmdelphin 1580863 11478809,17081983,15489334,14702039,12477932,11707320 54873 NM_017734,AC105270,CH471097,AF262379,AJ312214,AK000278,AK024654,AL390969,AL390970,AL390971,AL390972,AL390973,BC012570,BX648213,CR603507,CR624809 NP_060204,EAW72989,EAW72990,AAL33879,CAC59692,BAA91047,BAB14946,CAC01335,CAC01336,CAC01337,CAC01338,AAH12570,Q9NP74 Hs.483993 GDB:11501063 C1orf11|FLJ20271|PALML protein-coding 735807 PAM peptidylglycine alpha-amidating monooxygenase This gene encodes a multifunctional protein. It has two enzymatically active domains with catalytic activities - peptidylglycine alpha-hydroxylating monooxygenase (PHM) and peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL). These catalytic domains work sequentially to catalyze neuroendocrine peptides to active alpha-amidated products. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene but some of their full length sequences are not yet known. 1580863,1357926 10601332,7590286,7999037,9837933,2357221,17081983,16107699,15489334,12699694,12477932,12364573,11668475,10574929,9562574,9139723,9110174,8619474,8543779,8530412,8518727,8486658,8288234,8144680,8102327,8094086,7929615,7760848,7680192,7606087,2690069,1572293,1491686,1448112 1357926 5066 NM_138766,NM_138822,NM_138821,AC008779,AC010250,AC113373,CH471086,U20090,AB095007,AF010472,AF035320,AK290158,BC018127,BT007419,M37721,S75037,S75038,NM_000919,U19965,U19966 NP_000910,NP_620121,NP_620177,NP_620176,EAW49084,EAW49085,EAW49086,EAW49087,EAW49088,EAW49089,EAW49090,EAW49091,EAW49092,AAB60658,BAC22594,AAD01439,AAB88190,BAF82847,AAH18127,AAP36087,AAA36414,AAB32775,AAB32776,AAB91431,AAB91432,O43211,O43832,P19021,Q13749,Q54A45,Q7KYY0 Hs.369430 GDB:128628 PAL|PHM protein-coding 1348496 PAN2 PAN2 polyA specific ribonuclease subunit homolog (S. cerevisiae) 16964243,16344560,16284618,15489334,14715245,14702039,14583602,12838346,12477932,11148209,9734811 9924 NM_014871,NM_001127460,AC025574,AC073896,CH471054,AB014610,AB107585,AK001232,AK096679,BC024043,BC094885,BX648106,CR594501,DB290197,DB458902 NP_055686,NP_001120932,EAW96928,EAW96929,EAW96930,EAW96931,EAW96932,BAA31685,BAD02263,AAH24043,AAH94885,Q504Q3 Hs.273397 FLJ39360|KIAA0710|USP52|hPAN2 ubiquitin specific protease 52 protein-coding 1603874 PAN3 PAN3 polyA specific ribonuclease subunit homolog (S. cerevisiae) 15489334,15057823,14702039,14583602,12975309,12477932,18056425 255967 NM_175854,AL138712,AL356915,CH471075,AB107584,AB109552,AK091307,AK131556,AY358261,BC024318,BC128179,BC128180,BX647740,CR608882 NP_787050,CAI14848,CAM20921,EAX08430,BAD02262,BAD93184,BAC03632,BAD18690,AAQ88628,AAH24318,AAI28180,AAI28181,CAI45987,Q58A45,Q6UXP2,Q6ZMN5 Hs.656549 protein-coding 1312259 PANK1 pantothenate kinase 1 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, have been identified. 1580863 17631502,15489334,15164054,14523052,12477932,12379284,11809413,11479594,2981478 53354 AF355198,AK057932,AK125428,AK127777,AY027661,AY027662,AY027663,BC026296,BC036934,BK000008,BK000009,CR600267,NM_148977,NM_138316,NM_148978,AL157400,CH471066 EAW50130,EAW50131,EAW50132,EAW50133,AAL86371,AAK20916,AAK20917,AAK20918,AAH26296,DAA00002,DAA00003,Q8TE04,AAI56382,NP_683878,NP_612189,NP_683879 Hs.376351 GDB:10796388 MGC24596|PANK|PANK1a|PANK1b protein-coding 1313038 PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome) This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. 731233,1580863 17825826,17631502,17242360,17101457,16962235,16450344,16437574,16272150,16240131,15911822,15843062,15747360,15659606,15465096,15390030,15105273,14743358,14702039,14639680,12554685,12477932,12058097,11780052,11479594,8944032,18074375,18006953,17903678,2981478,17353931 731233 80025 NM_024960,NM_153638,NM_153640,AL031670,AL353194,CH471133,AF086501,AF494409,AK021791,AK097796,AK310190,AL519408,AL532307,AL713654,BC009421,BC065019,BC093633,BC101569,BC101571,BC107724,BC142976,BF698882,BK000010,CR596823,CR600050,CR618246 NP_079236,NP_705902,NP_705904,EAX10476,EAX10478,AAN32907,BAB13897,BAC05173,CAD28463,AAH65019,AAH93633,AAI01570,AAI01572,DAA00004,Q52M85,Q5T7I1,Q5T7I3,Q5T7I5,Q6P1K9,Q7RTX5,Q9BZ23,AAI40100 Hs.516859 GDB:11498559 C20orf48|FLJ17232|HARP|HSS|MGC15053|NBIA1|PKAN protein-coding 1321488 PANK3 pantothenate kinase 3 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. 731233,1580863 14702039,11479594,12477932,9373149,8125298,2981478,17631502,15489334 731233 79646 AC020894,NM_024594,CH471062,AK022961,AK223285,BC013705,BK000011 NP_078870,EAW61503,EAW61504,EAW61505,BAB14333,BAD97005,AAH13705,DAA00005,Q9H999 Hs.591729 GDB:11510811 FLJ12899|MGC16863 protein-coding 731329 PANK4 pantothenate kinase 4 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. 731233,1580863 16710414,16132722,16038259,15489334,14702039,12477932,11479594,9373149,8125298,2981478 731233 55229 NM_018216,CH471183,AK001644,AK223546,AL442072,BC043496,BK000012,BK000013,CR605034 NP_060686,EAW56097,EAW56098,EAW56099,BAA91805,BAD97266,CAC09438,AAH43496,DAA00006,DAA00007,Q7RTX2,Q9NVE7 Hs.26156 GDB:11510813 DKFZp547M242|FLJ10782 protein-coding 1347653 PANX1 pannexin 1 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. 1580863 17925379,17715132,17240370,17036048,16908669,16682648,16303743,15489334,15028292,14597722,12975309,12477932 24145 NM_015368,AF283663,AF398508,AP002784,AP003966,AY048509,CH471065,AF093239,AF398509,AK074897,AY359023,BC016931,CA418094 NP_056183,AAK73361,AAK91713,AAL06604,EAW66924,EAW66925,EAW66926,AAC61779,AAK91714,BAC11276,AAQ89382,AAH16931,Q543A0,Q96RD7 Hs.591976 GDB:10796819 MGC21309|MRS1|PX1|UNQ2529 protein-coding 1349764 PANX2 pannexin 2 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 17427027,16989724,16344560,15461802,15028292,14702039,14597722,12477932,10591208,8889548 56666 NM_052839,AL022328,CH471138,AF398510,AF398511,AK096019,AK123508,BC101023,BQ576292,BU732466,CA432022,CR456467,DA127683 NP_443071,EAW73494,EAW73495,EAW73496,AAK91715,AAK91716,AAI01024,CAG30353,Q495U3,Q6ICA1,Q96RD6,CAK54448,CAK54747 Hs.440092 GDB:10796820 MGC119432|PX2|hPANX2 protein-coding 1351582 PANX3 pannexin 3 The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. 1580863 17925379,15028292,14597722 116337 NM_052959,AP001524,CH471065,AA456140,AF406650 NP_443191,EAW67588,AAK95655,Q96QZ0,AAI52945 Hs.99235 PX3 protein-coding 1320571 PAOX polyamine oxidase (exo-N4-amino) 16354669,16207710,15489334,14702039,12975309,12660232,12477932,12477380 196743 NM_152911,NM_207128,NM_207127,AL360181,CH471211,AF226657,AF312698,AK124186,AK128001,AL834535,AY358418,AY541513,AY541514,AY541515,AY541516,AY541517,AY541518,AY541519,AY541520,AY541521,AY541522,AY541523,AY541524,BC032778,BE646315,CR594830,CR616123 NP_690875,NP_997011,NP_997010,CAH70287,CAM13077,EAW61340,EAW61341,EAW61342,EAW61343,EAW61344,EAW61345,EAW61346,EAW61347,AAN40706,AAO63265,CAD39191,AAQ88784,AAS64373,AAS64374,AAS64375,AAS64376,AAS64377,AAS64378,AAS64379,AAS64380,AAS64381,AAS64382,AAS64383,AAS64384,AAH32778,Q5VWX9,Q5VWY0,Q6QHF9,ABM82239,ABM84277,ABM85423,ABM87669 Hs.532469 DKFZp434J245|MGC45464|PAO|RP11-122K13.11 protein-coding 1604517 PAP2D phosphatidic acid phosphatase type 2 The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 16010976,12477932,9110174,8619474 163404 NM_001037317,NM_001010861,AL161744,AL445433,AL590110,CH471097,AF131783,AY574039,AY634620,BC040174,BC136350,BF514931,CR605411,DR001828,R37934 NP_001032394,NP_001010861,EAW72994,AAS76645,AAT64918,AAH40174,AAI36351,Q32ZL2,Q5VUF2,AAI40087,AAI43087 Hs.483948 PAP2 protein-coding 1322070 PAPD1 PAP associated domain containing 1 737633 17509149,15769737,15547249,15489334,15164054,14702039,12477932,12239557 737633 55149 AL161651,AL353796,CH471072,AB194709,AK001348,AK022188,AL122121,AY364242,BC061703,NM_018109 NP_060579,CAI14216,CAI14217,CAI14218,CAH72262,EAW86014,EAW86015,BAD98252,BAA91641,BAB13981,CAH56395,AAQ76801,AAH61703,Q5T851,Q5T852,Q9NVV4 Hs.173946 FLJ10486|RP11-305E6.3|mtPAP protein-coding 1315054 PAPD4 PAP associated domain containing 4 737633 16344560,15146197,14702039,12477932 737633 167153 NM_173797,NM_001114393,NM_001114394,AC008482,CH471084,AK095818,AL833136,BC026061,BC047581,CN348312,DB142133 NP_776158,NP_001107865,NP_001107866,EAW95837,EAW95838,BAC04629,AAH26061,AAH47581,Q6PIY7,Q86WZ2,Q8N927 Hs.418198 FLJ38499 protein-coding 1320003 PAPD5 PAP associated domain containing 5 1580863 14702039,12477932,10066793,9373149,8125298 64282 NM_001040284,NM_001040285,AC007597,AC007610,CH471092,AF089897,AK001141,AK097589,AK098806,AK223410,AL833922,BC035270,BC089405,DN994465 Q53F79,Q5EBM7,Q8NDF8,AAI56330,AAI57080,NP_001035374,NP_001035375,EAW82747,EAW82748,EAW82749,EAW82750,AAD45199,BAA91518,BAD97130,CAD38778,AAH89405 Hs.514342 FLJ40270|TRF4-2 protein-coding 1322495 PAPLN papilin, proteoglycan-like sulfated glycoprotein 1580863 16344560,14702039,12975309,12477932,11076767 89932 NM_173462,AC004846,AF109907,CH471061,AK021713,AK125658,AK127354,AK131073,AL110280,AY358330,BC042057,BX470414,BX537757,DA121177,DB088927 NP_775733,AAC97963,EAW81098,EAW81099,BAC86235,BAC85123,CAH56406,AAQ88696,AAH42057,CAD97826,O95428 Hs.655583 DKFZp434F053|MGC50452 protein-coding 1318583 PAPOLA poly(A) polymerase alpha 1580863 12226669,8302877,15489334,15302935,15231748,15169763,14749727,14743216,14702039,14517258,12477932,11878934,10742179,10429366,9356495,8491200,16189514 10914 AL163051,CH471061,AF002990,AK024849,AK097832,BC000927,BC015150,BC036014,BX161482,BX248301,BX248753,CR608973,CR609719,NM_032632,X76770 NP_116021,EAW81642,EAW81643,EAW81644,EAW81645,EAW81646,EAW81647,EAW81648,EAW81649,AAH00927,AAH36014,CAD61935,CAD62628,CAD66560,P51003 Hs.253726 GDB:9958949 MGC5378|PAP protein-coding 1322134 PAPOLB poly(A) polymerase beta (testis specific) 1580863 15489334,12477932,11459229,11150526,8491200 56903 NM_020144,AC092610,CH236953,AF218840,BC036653 NP_064529,AAS07561,EAL23967,AAF81013,AAH36653,Q75LH1,Q9NRJ5,ABM82152,ABM85337 Hs.487409 GDB:11502949 PAPT|TPAP protein-coding 1321183 PAPOLG poly(A) polymerase gamma This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. 1580863 15489334,15302935,14702039,12477932,11463842,11431479,11287430,8491200 64895 NM_022894,AC011245,AC012498,CH471053,AB209304,AF312211,AJ308101,AK021867,AK023034,AK023544,AK024249,AW515951,AY029162,BC016738,BC028593,BC068493,BC110906,BC111701,BC113747,BX647824 NP_075045,AAY14677,AAY14832,EAX00029,EAX00030,EAX00031,EAX00032,EAX00033,EAX00034,BAD92541,AAK83701,CAC59751,BAB13919,BAB14368,BAB14604,BAB14858,AAK31791,AAH16738,AAI10907,AAI11702,AAI13748,Q05DB9,Q2TAI9,Q53T17,Q53T81,Q59G05,Q9BWT3,Q9H7W6,Q9H968 Hs.387471 GDB:11507366 FLJ11805|FLJ12972|FLJ13482|FLJ14187|MGC133307|MGC133308 protein-coding 1317112 PAPPA pregnancy-associated plasma protein A, pappalysin 1 This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. 1580863,1642328,1642330,1642331,1642324,1642325,1642326,1642327,1642329 10077652,10913121,18377765,18089325,17714879,17700210,17565927,17516846,17509577,17437322,17314100,17237617,17177834,17145752,16963045,16959807,16388849,16344560,16115888,16086443,15919757,15754336,15656990,15647258,15489334,15450385,15305104,15262980,15146551,14988014,14705967,14702039,14657012,14530192,12970325,12817760,12744930,12687209,12626203,12524241,12477932,12421832,12414897,12370176,12241545,12213189,12087395,11914564,11897673,11822024,11522292,11134163,10491647,8620868,7685339,7679961,7586586,7539791,7526035,7512304,7508748,6207082,6203109,6172371,6084247,2438405,2427179,2422961,1721035 1642328,1642330,1642331,1642324,1642325,1642326,1642327,1642329 5069 AL137024,AL353141,AL691426,AY623013,BX640901,CH471090,AF085834,AF085855,AJ420429,AJ420467,AK024330,AK092441,AK094182,AK129714,AU139179,AY140907,AY189937,AY302185,AY623010,NM_002581,BC062657,BC078657,BG572566,BG622932,BG623020,BU158714,CB960120,CB988079,CB989873,CR597268,R75872,W04151,X68280 NP_002572,AAV41521,EAW87439,EAW87440,EAW87441,EAW87442,AAN25598,AAO25648,AAP68818,AAV41518,AAH78657,CAA48341,Q13219,Q5QFB7,Q5T7J4,Q7Z613,Q86YM8,Q8IWT8 Hs.643599,Hs.712558 GDB:134729 ASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1 protein-coding 1312133 PAPPA2 pappalysin 2 1580863 11264294,16710414,15231748,12477932,12466191,11597188,11018262,9883900 60676 NM_021936,AL031290,AL031734,AL139282,AL596254,CH471067,AB209369,AF311940,AF342989,AF342990,AJ278348,BC062665,BC104644,BC117193,BC117195,NM_020318,BC152552,CR590333 NP_064714,NP_068755,EAW91003,EAW91004,BAD92606,AAK31073,AAL17779,AAL17780,CAC11134,AAI17194,AAI17196,Q59FU0,Q5VTB5,Q9BXP8,AAI56075,AAI57040 Hs.187284 PAPP-A2|PAPPE|PLAC3 protein-coding 1317646 PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM] 1580863 9771708,17540769,16344560,16169070,15755455,15489334,15065880,14747722,12716056,12477932,11931637,10679223,10657990,9915785,9671738,9668121,9648242,9576487 9061 Y10387,NM_005443,AC004045,AC098586,AC106861,AF097710,AF097711,AF097712,AF097713,AF097714,AF097715,AF097716,AF097717,AF097718,AF097719,AF097720,AF097721,CH471057,U53447,AF016496,AF033026,AF105227,AK292774,AU132232,BC011392,BC032513,BC040940,BC050627,BQ437924,BU517185,CR457028 CAG33309,CAA71413,O43252,Q05BW9,Q4W5F0,Q4W5H3,Q6IAX6,ABM81969,ABM85148,NP_005434,AAY40925,AAY41043,AAF40235,EAX06210,AAC39894,AAD09325,AAC28429,AAF40236,BAF85463,AAH11392,AAH32513,AAH50627 Hs.368610 GDB:9958975 ATPSK1|PAPSS|SK1 protein-coding 1315952 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. 1580863 17353931,9771708,15489334,12477932,11931653,11931637,11773860,11159808,10679223,10657990,10559207,9714015,9671738,11558903 9060 AF160508,AF173364,AF160509,AL133327,AL138767,CH471066,AF074331,AF091242,AF150754,AF173365,AF313907,BC009894,BQ221395,BQ772647,BQ888954,CB960618,CR606817,CR619173,NM_001015880,NM_004670,AF160503,AF160504,AF160505,AF160506,AF160507 AAF12780,CAI16702,CAI16028,EAW50181,EAW50182,EAW50183,AAD38423,AAC64583,AAF20366,AAF12761,AAK00296,AAH09894,O95340,Q5TB52,Q9UIR2,ABM84551,ABM86356,NP_001015880,NP_004661,AAF40307 Hs.524491 GDB:9954820 ATPSK2|SK2 protein-coding 1321322 PAQR3 progestin and adipoQ receptor family member III 737633 17724343,16344560,16044242,15489334,14702039,12477932 737633 152559 NM_001040202,AC093841,CH471057,CQ859770,AK055774,AK126273,AK291232,AL080110,AY424281,BC029604,BC031256,BC047510,BX648346,CR604581,CR606971,DA410845 NP_001035292,EAX05836,EAX05837,EAX05838,EAX05839,CAH25935,BAF83921,AAR08369,AAH29604,AAH31256,AAH47510,Q6TCH7 Hs.657312 RKTG protein-coding 1319922 PAQR4 progestin and adipoQ receptor family member IV 737633 16344560,16044242,15489334,14702039,12477932 737633 124222 NM_152341,AC004235,CH471112,AK054564,AK092173,AK291373,AL832527,AY424282,BC033703,CR594447,CR609445,CR609513,CR622431,CR623107,DA268775,DB505162 NP_689554,EAW85441,EAW85442,EAW85443,EAW85444,BAB70758,BAC03821,BAF84062,AAR08370,AAH33703,Q8N4S7 Hs.351474 FLJ30002 protein-coding 1606550 PAQR5 progestin and adipoQ receptor family member V 16044242,12601167,12574519,12477932 54852 NM_017705,NM_001104554,AC026992,AC027237,CH471082,AK000197,AW779994,AY424283,BC039234,BE747523,CR609133 NP_060175,NP_001098024,EAW77838,EAW77839,BAA91004,AAR08371,AAH39234,Q9NXK6,ABM86765,ABW03821 Hs.591096 FLJ20190|MPRG protein-coding 1323634 PAQR6 progestin and adipoQ receptor family member VI 16044242,15489334,14702039,12477932 79957 CR619912,CR621140,AL834227,CR618069,AF455045,AF455046,AF455047,AK026325,AK054682,AK094346,AK095143,AK095197,AY424284,BC058509,BC071623,CR590814,NM_024897,NM_198406,AL135927,CH471121 Q5TCK7,Q5TCK8,Q5TCK9,Q6IQ11,Q6TCH4,Q7Z4Q8,CAD38905,EAW52976,EAW52977,EAW52978,EAW52979,EAW52980,EAW52981,EAW52982,EAW52983,EAW52984,AAP97701,AAP97702,AAP97703,BAB15446,BAC04493,BAC04497,AAR08372,AAH58509,AAH71623,NP_079173,NP_940798,CAI15542,CAI15543,CAI15544,EAW52975 Hs.235873 FLJ22672 protein-coding 1606437 PAQR7 progestin and adipoQ receptor family member VII 17082257,16044242,15489334,12606724,12601167,12574519,12477932 164091 AA778580,AF313620,AY424285,BC034015,BC042298,BC127800,CA434186,NM_178422,AL033528,CH471059 EAX07862,AAO47233,AAR08373,AAH34015,AAI27801,Q5XKF9,Q86WK9,NP_848509,CAM12867 Hs.523652 MPRA|PGLP|mSR protein-coding 1323309 PAQR8 progestin and adipoQ receptor family member VIII 16044242,15489334,15146197,14702039,14574404,12606724,12601167,12574519,12477932,12107412,11676489 85315 NM_133367,AL136125,AL138722,CH471081,AF313619,AF347029,AI655504,AI656485,AJ420470,AK057083,AK093603,AK128085,AY424286,BC030664,CD672455,CN283490,CN395844 NP_588608,CAC05478,EAX04368,EAX04369,AAO47232,AAL79777,AAR08374,AAH30664,Q8TEZ7 Hs.239388 GDB:11504925 C6orf33|FLJ32521|FLJ46206|LMPB1|MPRB chromosome 6 open reading frame 33 protein-coding 1323015 PAQR9 progestin and adipoQ receptor family member IX 16044242,15489334,14702039,12477932 344838 NM_198504,AC021074,CH471052,AK093381,AK123932,AY424287,BC030124,BC118666,BC122527 NP_940906,EAW78959,BAC85729,AAR08375,AAI18667,AAI22528,Q6ZVX9 Hs.408385,Hs.656111 FLJ41938 protein-coding 1604392 PARC p53-associated parkin-like cytoplasmic protein 18230339,17332328,17298945,16672220,15489334,14702039,12526791,12477932,12421765,10521492,9734811,15558054 23113 AJ318215,AK125228,AK129649,AY145132,BC002879,BC017747,BC028159,CR749511,CR749841,NM_015089,AL133375,CH471081,AB014608 BAA31683,CAC85756,BAC86090,BAC85207,AAN61516,AAH02879,AAH28159,CAH18328,CAH18696,Q05C85,Q5TCY3,Q8IWT3,NP_055904,CAI20204,EAX04163,EAX04164 Hs.485434 GDB:9955012 DKFZp686G1042|DKFZp686P2024|H7AP1|RP3-330M21.2 protein-coding 731593 PARD3 par-3 partitioning defective 3 homolog (C. elegans) PARD proteins, which were first identified in C. elegans, are essential for asymmetric cell division and polarized growth, whereas CDC42 (MIM 116952) mediates the establishment of cell polarity. The CDC42 GTPase, which is controlled by nucleotide exchange factors (GEFs; see MIM 606057) and GTPase-activating proteins (GAPs; see MIM 604980), interacts with a large set of effector proteins that typically contain a CDC42/RAC (MIM 602048)-interactive binding (CRIB) domain.[supplied by OMIM] 1580863 11260256,10954424,12953056,15254234,17353931,15778465,16189514,10934474,14676191,17989107,17609107,17287830,17081983,17057644,17053785,16678097,16505165,15951569,15782111,15723052,15489334,15324660,15302935,15144186,14760703,14702039,12650946,12515806,12477932,12459187,12234671,11642408,11447115,11257119,11149944 56288 NM_019619,AL138768,AL160409,AL360233,AL390766,AF454059,AF467002,AF467003,AF467004,AF467005,AF467006,AK000761,AK024668,AK025892,AK027735,BC011711,BC071566,AL392123,AL450337,AL590039,AL603963,CH471072,AB073671,AF177228,AF196185,AF196186,AF252293,AF332592,AF332593,AF454057,AF454058 NP_062565,CAI16985,CAI16986,CAI16987,CAI16988,CAI16989,CAI16990,CAI16991,CAI16992,CAH73524,CAH73525,CAH73526,CAH73527,CAH73528,CAH73529,CAH71161,CAH71162,CAH71163,CAH71164,CAH71165,CAH71166,CAH71167,CAH71168,CAI17304,AAN75699,AAL76042,AAL76043,AAL76044,AAL76045,AAL76046,BAA91366,BAB55330,AAH11711,AAH71566,AAN75698,CAI17306,CAI17307,CAI17308,CAI17309,CAI17310,CAI17311,EAW85932,EAW85933,EAW85934,BAC54037,AAG33676,AAK27891,AAK27892,AAF71530,AAK69192,AAK69193,AAN75697,CAI17305,Q5T2A7,Q5T2U1,Q5VWU8,Q5VWV0,Q5VWV1,Q5VWV2,Q5VWV3,Q5VWV4,Q5VWV5,Q6IQ47,Q8IX26,Q8IX27,Q8IX28,Q8TEW0 Hs.131489 GDB:11500990 ASIP|Baz|Bazooka|FLJ21015|PAR3|PAR3alpha|PARD3A|SE2-5L16|SE2-5LT1|SE2-5T2 three-pdz containing protein similar to c. elegans par3 (partitioning defect) protein-coding 1312545 PARD3B par-3 partitioning defective 3 homolog B (C. elegans) 1580863 12234671,11586298,12650946,15778465,16458856,15721295,15324660,14702039,12477932,12459187 117583 NM_205863,NM_057177,NM_152526,AC007385,AC007465,AC007736,AC007746,AC008168,AC008171,AC009316,AC011750,AC016903,AC108468,CH471063,AB053321,AB073472,AB092439,AF428250,AF428251,AF466152,AI742400,AK056157,AK057965,AL832951,AW274720,BC012984 NP_995585,NP_476518,NP_689739,AAX76515,AAY24228,AAX88974,AAY24325,AAY15023,AAY24245,AAY14757,AAX93083,EAW70358,EAW70359,EAW70360,BAB69028,BAC54035,BAC54285,AAL30664,AAL30665,AAL79827,BAB71106,BAB71623,Q4ZG80,Q53SN0,Q53T65,Q53TI4,Q53TL6,Q53TP8,Q53TQ6,Q587I4,Q8TEW8,AAI56253 Hs.657382 GDB:11505613 ALS2CR19|MGC16131|PAR3B|PAR3L|PAR3LC|PAR3beta|Par3Lb amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19 protein-coding 1345737 PARD6A par-6 partitioning defective 6 homolog alpha (C. elegans) This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9482110,17976838,17586613,17420281,17335965,17057644,17050699,15831491,14676191,12545177,12477932,12459187,11260256,11257119,10954424,10934474,10873802,16189514,15782111,15761153,15761148,15744531,15590654,15489334,15345747,15254234,14976222,14718572 50855 AB043634,AF028827,AF252292,AF265565,AJ277095,NM_016948,BC015626,CR617308,NM_001037281,AC010530,CH471092,AB041642 BAB16105,BAA96235,AAB84252,AAF71529,AAF75548,NP_058644,CAB85490,AAH15626,Q9NPB6,ABM84403,ABM87346,NP_001032358,EAW83151 Hs.112933 GDB:11500992 PAR-6A|PAR6|PAR6C|PAR6alpha|TAX40|TIP-40 par-6 partitioning defective 6 homolog alpha (c.elegans) protein-coding 1317848 PARD6B par-6 partitioning defective 6 homolog beta (C. elegans) This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. 1580863 14676191,12545177,15677324,15489334,12725730,12477932,12459187,12234671,11780052,11260256,10934474 84612 NM_032521,AL031680,CH471077,AB044555,AB178534,BC060847,CA435324 NP_115910,CAB44747,EAW75615,EAW75616,EAW75617,BAB40756,BAF92013,AAH60847,Q9BYG5 Hs.589848 GDB:11500993 PAR6B protein-coding 1312794 PARD6G par-6 partitioning defective 6 homolog gamma (C. elegans) 1580863 11260256,15489334,14702039,12477932,12459187,11257119,10934474 84552 NM_032510,AC139100,CH471117,AA502508,AB043635,AB044556,AB178535,AB178536,AK128802,BC060797 NP_115899,EAW66649,BAA96236,BAB40757,BAF92014,BAF92015,AAH60797,Q9BYG4,Q9NS63 Hs.654920 GDB:11500994 FLJ45701|PAR-6G|PAR6gamma protein-coding 1351666 PARG poly (ADP-ribose) glycohydrolase Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. 15450800,9925755,17548475,17509564,16963444,16526943,16117724,15868399,15489334,15302935,15212953,15081900,14622405,14527731,12878198,12477932,11053413,10449915,9115250,8428996 8505 NM_003631,AL450342,AL731572,AY258588,CH471187,AF005043,AY258587,AY575848,AY575849,BC012005,BC050560,BC052966,CR619290,DQ867088,EF382674 NP_003622,CAI15133,CAI15135,AAP83316,EAW93079,AAB61614,AAP83314,AAT66421,AAT66422,AAH50560,AAH52966,ABH85399,ABR10027,Q0MQR4,Q5SQP4,Q5SQP5,Q6X2S8,Q86W56 Hs.535298,Hs.536158 GDB:9955508 PARG99 protein-coding 1347705 PARK10 Parkinson disease 10 12402251 170534 GDB:11508925 1347455 PARK11 Parkinson disease (autosomal recessive, early onset) 11 12638082 352908 730938 PARK2 Parkinson disease (autosomal recessive, juvenile) 2, parkin The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. 1302872,737763,1300048,1580863 11590439,12364339,16352719,17097639,9560156,18486522,18464276,18413468,18387843,18378882,18211709,18195004,18022644,18004887,15101042,15090075,15078880,14991825,14987449,14976155,14737177,14727181,14678753,14639672,14614460,14574404,14559152,14532270,14519684,12975291,12973932,12972428,12972409,12925569,12891670,12815654,12784265,12783850,12781599,16502212,16500134,16476817,16455660,16449237,16391553,16367892,16344560,16339143,16332688,16287063,16269266,16244875,16227987,16227559,16189514,16157901,16130151,16086186,16049031,16019250,15987638,15970950,15963499,15896322,15894486,15862897,15823482,15781988,15737990,15728840,15718234,15717024,15642853,15606901,15584030,15557340,15492001,15489334,15455441,15453267,15326242,15315343,15300670,15266615,15261877,15252205,15229644,15198987,15192821,15132984,15108293,15105460,15102676,18003639,17989306,17976945,17935510,17934880,17873367,17766365,17724286,17722288,17687034,17680541,17512523,17467279,17465879,17415800,17400506,17353387,17335904,17329252,17324265,17314283,17285542,17280783,17267552,17187375,17068781,17017530,16955485,16914382,16905117,16840513,16837855,16826604,16819513,16793319,16769863,16734611,16643317,16637659,16636914,16606767,16517073,16511856,12764050,12730996,12719539,12716939,12707457,12692130,12691660,12673578,12670421,12634850,12629236,12628165,12584415,12548343,12548339,12477932,12397156,12374768,12362318,12270650,12165399,12150907,12138708,12116199,12114481,12112109,12044248,12034719,12000718,11971093,11889248,11839750,11679592,11588587,11527378,11487568,11468333,11439185,11431533,11405814,11402119,11278816,11248588,11241385,11215568,11179010,11163284,11078524,11009195,10973942,10965160,10939576,10888878,10824074,10791092,10511432,10319893,10214987,10072423,9802278,9731209,9634531,9570960,9042918,9014427,15603737 1302872,737763 5071 BC022014,DB023187,EF375726,NM_013988,NM_013987,NM_004562,AL008631,AL035697,AL078583,AL132982,AL138716,AL445215,AP000886,AP000887,AP000888,AP001576,AP001577,AP001578,AP002091,AP003699,AY463003,AY564223,AY564224,AY564225,AY745246,AY745247,CH471051,AB009973,AB245403,AF381282,AF381283,AF381284,AF381286,AK292590 BAF85279,AAH22014,ABN46990,O60260,Q5TFV9,Q5VVX1,Q5VVX2,Q5VVX3,Q5VVX4,Q5XNR7,Q5XNR8,Q6Q2I7,Q6Q2I8,Q6S8G7,Q8NI42,NP_054643,NP_054642,NP_004553,CAI23601,CAI23602,CAI23603,CAI23604,CAH73681,CAH73682,CAH73683,CAH73685,AAR27057,AAS88420,AAS88421,AAS88422,AAU93631,AAU93632,EAW47571,EAW47572,EAW47573,EAW47574,BAA25751,BAF43729,AAM21457,AAM21458,AAM21459,AAM21461 Hs.132954,Hs.711370,Hs.711530,Hs.711601 GDB:6802742 AR-JP|LPRS2|PDJ|PRKN protein-coding 1346150 PARK3 Parkinson disease (autosomal dominant, Lewy body) 3 9500549 5072 GDB:9837389 1349392 PARK4 Parkinson disease (autosomal dominant, Lewy body) 4 9887334,10867800 60454 GDB:11501035 1354265 PARK6 Parkinson disease (autosomal recessive) 6 11254447 113879 GDB:11507368 1344212 PARK7 Parkinson disease (autosomal recessive, early onset) 7 The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. 1601073,1601076,1580863 15983381,17510388,9070310,12446870,18486522,18436956,18181649,18162323,18045143,17949781,17882163,17846173,17671684,17599367,17504761,17487420,17451229,17120294,17085780,17034344,17017532,17015834,16781058,16731528,16710414,16707095,16632486,16570276,16517609,16403519,16316629,16240358,16227205,16157901,15976810,15970950,15944198,15935068,15790595,15766664,15717024,15703819,15592455,15542239,15503154,15502874,15489334,15372597,15365989,15342556,15308309,15304593,15254937,15219840,15181200,15108293,15018843,14985393,14872018,14718574,14713311,14712351,14705128,14705119,14702039,14662519,14652021,14638971,14607841,14598065,14579415,14557580,12953260,12939276,12914946,12855764,12851414,12815653,12796482,12761214,12612053,12548343,12526767,12477932,11477070,11462174,11223268,16189514 1601073,1601076 11315 CR618546,CR619796,CR623768,CR623919,D61380,CR616157,NM_001123377,AL034417,AY648999,CH471130,AB073864,AF021819,AK091679,AK130886,AK312000,BC008188,BP248330,CR591123,NM_007262 BAA09603,Q99497,NP_009193,NP_001116849,CAB52550,AAT68961,EAW71591,BAB71782,AAC12806,BAG34938,AAH08188 Hs.419640 GDB:11501049 DJ-1|DJ1|FLJ27376|FLJ34360|FLJ92274 protein-coding 1345890 PARK8 Parkinson disease (autosomal dominant) 8 GDB:11507370 1350813 PARK9 Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome) 11584046 140600 GDB:11507372 1314669 PARL presenilin associated, rhomboid-like This gene encodes a mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. 17116872,17019603,15729572,15489334,14732705,12774122,12477932,12214059 55486 NM_001037639,NM_018622,AC068644,AC131160,CH471052,AF116692,AF197937,AK024765,BC003653,BC014058,CA417847,CB122278 NP_001032728,NP_061092,EAW78311,EAW78312,AAF71112,AAG28519,AAH03653,AAH14058,Q9H300,ABM84368,ABM87748 Hs.478469 PRO2207|PSARL|PSARL1|PSENIP2|RHBDS1 protein-coding 1348471 PARN poly(A)-specific ribonuclease (deadenylation nuclease) Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. The amino acid sequence of poly(A)-specific ribonuclease shows homology to the RNase D family of 3'-exonucleases. The protein appears to be localized in both the nucleus and the cytoplasm. It is not stably associated with polysomes or ribosomal subunits. 1580863 9736620,15231747,17391638,17081983,16964243,16601207,16317009,16281054,15635413,15489334,15358788,15175153,14702039,14527413,12748283,12477932,12429849,11790298,11742007,11719186,11424938,11359775,11230136,10882133,10801819,10698948,10640832,9099687 5073 NM_002582,AC009167,AC092291,CH471112,AJ005698,AK023866,BC044763,BC050029 NP_002573,EAW85110,EAW85111,CAA06683,AAH50029,O95453 Hs.253197 GDB:9863215 DAN protein-coding 1345118 PARP1 poly (ADP-ribose) polymerase family, member 1 This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. 1601091,1601085,1580863,1601087 16620772,16492928,16461442,16412052,16405741,16386505,16364363,16344560,16328064,16323285,16306129,16284386,16262266,16212410,16207712,16179389,16123586,16115861,16026592,16002043,15940627,15895395,15866623,15826658,15821886,15819892,15808511,15777284,15774926,15750180,15743888,15737996,15731342,15729291,15705867,15703174,15672325,15640154,15635413,15607977,15572421,15564335,15555565,15536154,15498778,15489954,15489334,15375506,15374823,15342424,15331727,15304054,14734561,10958667,10944198,9518481,18483312,18357393,18347181,18330920,18314489,18312852,18258916,18230337,18164959,18078995,18073140,18055453,18054777,18054108,18025084,18006925,17975135,17943227,17908769,17900801,17889105,17884996,17785446,17703177,17616514,17596754,17560163,17548475,17540609,17529993,17518695,17459151,17428792,17413981,17385326,17362997,17360427,17314023,17295209,17290104,17283177,17225870,17220334,17203305,17187679,17172468,17158748,17148781,17088946,16920718,16904257,16890595,16889694,16628003,16627622,16621887,2513174,16107709,15292449,11258948,11248244,11248084,11070027,10799874,10744766,10471503,10467406,10405328,10082530,10077636,9642267,9586635,9584196,9565608,9563011,9537509,9398855,9373149,9315851,8804412,8491200,8125298,7642516,6293541,3121332,3120710,3113420,3103132,3029772,2891139,2824474,15286704,15280503,15257133,15247263,15205355,15133513,15110646,15044383,15019581,14759373,14754756,14715657,14702039,14699148,14642390,14623329,14612404,14596914,14585985,14559993,14557488,14500814,12960163,12930846,12898523,12853070,12714254,12704785,12674511,12673357,12668662,12642583,12640039,12632415,12606781,12592385,12528821,12519782,12496481,12477932,12217960,12117981,12011073,11956622,11941587,11846007,11790116,11781832,11756665,11591122,11590148,11536009,11509621,11443112,2498872,2434482,2125269,2123876,2121735,2109322,2108670,1505517,1424803,15103018,9548463,15498776,16429131,15781132,12404116,15650754,15767427,11123279,15100233,15580265,15205535,8226768,15186778 1601091,1601085,1601087 142 AF524947,AL359704,AL359742,CH471098,M29786,M60436,X16674,X56140,AF401218,AK125650,AK225654,BC008660,BC014206,BC018620,BC021045,NM_001618,CR604398,CR610406,DB097441,J03473,M17081,M18112,BC037545,M32721 NP_001609,AAM75364,CAH70215,CAH70216,CAH70217,EAW69783,EAW69784,EAW69785,AAA51663,AAA60000,CAA34663,CAA39606,AAL02174,AAH14206,AAH18620,AAH37545,AAB59447,AAA51599,AAA60137,AAA60155,P09874,Q05D33,Q5VX86,Q6PJL0,Q96P95,ABM82562,ABM85752 Hs.177766 ADPRT|ADPRT1|PARP|PARP-1|PPOL|pADPRT-1 protein-coding 1348193 PARP10 poly (ADP-ribose) polymerase family, member 10 Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM] 16455663,16344560,15674325,15489334,15273990,14702039,12477932,9373149,8125298 84875 NM_032789,AC109322,CH471162,AI470346,AK027370,AK075250,AK124017,AK128537,AK129821,AK222914,BC014229,BC019030,BC020378,BC030549,BC035485,BC132961,BC136542,DA124793 NP_116178,EAW82169,BAB55067,BAC11498,BAD96634,AAH14229,AAH19030,AAI32962,AAI36543,Q53GL7,Q8N7W4,Q96K72 Hs.348609 FLJ14464 protein-coding 1344916 PARP11 poly (ADP-ribose) polymerase family, member 11 1580863 16541075,16189514,15489334,15273990,14702039,12477932,8889548,17353931 57097 NM_020367,AC005842,AC006207,CH471116,AF263540,AK096373,BC017569,BC031073,BX640960,BX647487,CR749294 NP_065100,EAW88852,EAW88853,EAW88854,EAW88855,EAW88856,AAF91391,BAC04770,AAH17569,AAH31073,CAE45979,CAH18149,Q8N8P8,Q9NR21,Q6MZP9 Hs.702282 C12orf6|DKFZp779H0122 protein-coding 1318511 PARP12 poly (ADP-ribose) polymerase family, member 12 1580863 15489334,14702039,12853948,12851707,12690205,12477932,11230166,9847074 64761 NM_022750,AC004849,AC004961,AC025816,CH236950,CH471070,AF173884,AK026346,AL136766,AL137255,BC044660,BC081541,CR602813,CR617533 NP_073587,AAF66161,EAL24033,EAW83938,EAW83939,AAQ13631,BAB15457,CAB66700,CAB70657,AAH81541,Q7Z2T1,Q9H0J9 Hs.12646 FLJ22693|MST109|MSTP109|PARP-12|ZC3H1|ZC3HDC1 protein-coding 1344897 PARP14 poly (ADP-ribose) polymerase family, member 14 Poly(ADP-ribosyl)ation is an immediate DNA damage-dependent posttranslational modification of histones and other nuclear proteins that contributes to the survival of injured proliferating cells. PARP14 belongs to the superfamily of enzymes that perform this modification (Ame et al., 2004 [PubMed 15273990]).[supplied by OMIM] 12477932,10574462,17478423,16344560,16061477,15273990,14702039 54625 NM_017554,AC048348,AC092908,CH471052,AA890511,AB033094,AK001770,AK022542,AK026003,AK027260,AK098816,AU117601,AY134858,BC032804,BC039604,BU170133,BX648758,CR977108,DC320673,DQ063584,DQ063585 NP_060024,EAW79467,EAW79468,EAW79469,EAW79470,BAA86582,BAA91897,BAB14089,AAN08627,AAH32804,AAY64449,AAY64450,Q460N5,Q8N546 Hs.518203 BAL2|KIAA1268 protein-coding 1353381 PARP15 poly (ADP-ribose) polymerase family, member 15 PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM] 1580863 16344560,16061477,15489334,15273990,14702039,12477932 165631 NM_152615,NM_001113523,AC092908,CH471052,AK097515,AK097916,BC101701,BC101703,BX647656,DB158535,DQ063586 NP_689828,NP_001106995,EAW79473,EAW79474,EAW79475,BAC05197,AAI01702,AAI01704,AAY64451,Q460N3 Hs.120250 BAL3|FLJ40196|FLJ40597|MGC126750|MGC126752 protein-coding 1350046 PARP16 poly (ADP-ribose) polymerase family, member 16 15489334,15273990,14702039,12477932 54956 NM_017851,AC068213,CH471082,AK000516,AK058010,BC006389,BC031074,CR618260 NP_060321,EAW77718,EAW77719,EAW77720,EAW77721,BAA91222,AAH06389,AAH31074,Q8N5Y8 Hs.30634 C15orf30|FLJ20509|FLJ25281 protein-coding 1351589 PARP1P1 poly (ADP-ribose) polymerase family, member 1 pseudogene 1 2891139 144 NG_002655,AL442128 ADPRTP1|PPOLP1 pseudo 1606844 PARP1P2 poly (ADP-ribose) polymerase family, member 1 pseudogene 2 2891139 145 NG_002656,AL137191 ADPRTP2|PPOLP2 pseudo 1602134 PARP2 poly (ADP-ribose) polymerase family, member 2 This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. 7260241,17518695,16461352,16344560,14702039,14699148,11948190,10644454,10364231,10338144,10329013,12217960 10038 NM_005484,NM_001042618,AF479321,AL355075,AX008892,CH471078,AF085734,AJ236876,AJ236912,AK001980,AK290079,BU541261,CR615442,DA354586 NP_005475,NP_001036083,AAL77437,CAC07442,EAW66476,EAW66477,EAW66478,AAD29857,CAB41505,CAB65088,BAA92017,BAF82768,Q9UGN5 Hs.409412 ADPRT2|ADPRTL2|ADPRTL3|PARP-2|pADPRT-2 protein-coding 1604647 PARP3 poly (ADP-ribose) polymerase family, member 3 The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. 17353931,7260241,10338144,17203305,16924674,15489334,12640039,12477932,12107410,11587854,10737800,10644454,10329013,16189514,9642267 10039 NM_005485,NM_001003931,AC115284,AX008894,AX008896,CH471055,AB208803,AF083068,AI088919,AL050034,AY126341,BC014260,BF375394,BG818516,BU632340,NM_001003935,CA394313,Y16836 NP_001003935,NP_005476,NP_001003931,CAC07443,CAC07444,EAW65160,EAW65161,EAW65162,EAW65163,BAD92040,AAD29855,CAB43246,AAM95460,AAH14260,CAC79988,Q59HF6,Q9Y6F1 Hs.271742 ADPRT3|ADPRTL2|ADPRTL3|IRT1|hPARP-3|pADPRT-3 protein-coding 1606845 PARP4 poly (ADP-ribose) polymerase family, member 4 This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. 10100603,10644454,15169895,12101391,12140175,12123754,11291045,11855821,11479319,17203305,16344560,15057823,12829019,12477932,10551828,10477748,8724849,7937745,15781132,12404116 143 NM_006437,AL359763,CH471075,AF057160,AF158255,BC017815,BX479127,CA308288,CV574448,D79999,DB238428,T10289 NP_006428,CAI12394,EAX08336,AAC62491,AAD47250,AAH17815,BAA11494,Q5QNZ9,Q9UKK3 Hs.591227 ADPRTL1|PARPL|PH5P|VAULT3|VPARP|p193 protein-coding 1353563 PARP4P poly (ADP-ribose) polymerase family, member 4 pseudogene 12815422 347613 NG_002802,AC019099 ADPRTL1P pseudo 1344996 PARP6 poly (ADP-ribose) polymerase family, member 6 16344560,15489334,15273990,14702039,12477932 56965 NM_020214,AL390087,AL390093,BC015176,BC015314,BC026955,BC110902,BC119688,BC119689,CR593713,DB121441,AC009690,CH471082,AK021790,AK022547,AK024703,AK091172,AK126416,AL122091 NP_064599,CAB98210,CAB98250,AAH15176,AAH15314,AAI10903,AAI19689,AAI19690,Q0VDG0,Q2NL67,Q96BU0,Q9NPQ9,CAB59261,EAW77891,EAW77892,EAW77893,EAW77894,EAW77895,EAW77896,EAW77897,EAW77898,EAW77899,BAB13896,BAB14092,BAB14969 Hs.270244 MGC131971 protein-coding 1350347 PARP8 poly (ADP-ribose) polymerase family, member 8 1580863 11256614,16381901,15489336,15489334,15273990,14702039,12477932,11230166,11076863,9373149,8125298 79668 NM_024615,AC008919,AC022441,AC112187,CH471123,AK024961,AK225188,AK289369,AL834477,BC037386,BC075801,BC105789 NP_078891,EAW54857,EAW54858,EAW54859,BAB15044,BAF82058,CAD39136,AAH37386,AAH75801,AAI05790,Q49AI7,Q8N3A8,CAL37882 Hs.369581 FLJ21308|MGC42864 protein-coding 1347584 PARP9 poly (ADP-ribose) polymerase family, member 9 737633 11110709,16809771,15489334,12670957,12477932,15902274 737633 83666 AC092908,AC096861,CH471052,AB209742,AF307338,AF307339,AK123412,AK130147,AK292959,AL713679,AL832929,NM_031458,BC017463,BC039580,BX648869,CR596753,CR599565 NP_113646,EAW79477,EAW79478,EAW79479,BAD92979,AAK07558,AAK07559,BAF85648,CAD28483,CAH56290,AAH39580,CAH56133,Q59ER9,Q63HJ7,Q658Y0,Q8IXQ6 Hs.518200 BAL|BAL1|DKFZp666B0810|DKFZp686M15238|FLJ26637|FLJ41418|MGC:7868 protein-coding 1603670 PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative) 16710414,15779907,15489334,14702039,12477932 25973 NM_152268,AL139244,CH471059,AK025585,AK289679,AL117473,BC007956,BC011758,CR603986 NP_689481,CAI18996,EAX06669,BAB15178,BAF82368,CAB55948,AAH07956,AAH11758,Q7L3T8 Hs.380169 DKFZp727A071|MGC14416|MGC19467|MT-PRORS protein-coding 1352322 PARVA parvin, alpha Members of the parvin family, including PARVA, are actin-binding proteins associated with focal contacts.[supplied by OMIM] 1580863 17353931,15817463,15489334,15353548,15284246,15242332,14702039,12477932,12432066,11722847,11694518,11331308,11171322,11134073,16189514 55742 NM_018222,AC009806,AC025300,CH471064,AF237771,AF325830,AK001655,AK022316,AK098504,BC014535,BC016713,CR590611,CR599976,CR612241,CR612774,CR620102,CR624090 NP_060692,EAW68523,EAW68524,EAW68525,AAG27173,AAK49911,BAA91815,BAB14009,AAH14535,AAH16713,Q9NVD7 Hs.607144 GDB:11507374 FLJ10793|FLJ12254|MXRA2 protein-coding 1322969 PARVB parvin, beta Members of the parvin family, including PARVB, are actin-binding proteins associated with focal contacts.[supplied by OMIM] 1580863 17353931,17998334,15835269,15489334,15467740,15284246,15159419,15005707,12529303,12499396,12477932,12372433,11722847,11402068,11171322,10810093,10591208 29780 NM_001003828,NM_013327,AL031595,AL033543,AL035398,CH471138,Z82174,Z82178,AB048276,AF151814,AF237769,AF303887,AL159142,BC017461,BC039811,BC046103,BG743702,CB044150,CR597010,CR604955,CR606501,CR610431,CR619856,CR620083,CR620643,CR621262,CR622038,CR622750,CR626839 NP_001003828,NP_037459,CAI22312,EAW73328,EAW73329,EAW73330,EAW73331,CAQ08662,BAB62077,AAD34051,AAG27171,AAL08219,CAB76900,AAH46103,Q96PN1,Q9HBI1 Hs.475074 GDB:11507376 CGI-56 protein-coding 1322037 PARVG parvin, gamma Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM] 1580863 11171322,16517730,15993274,15489334,15461802,12529303,12477932,11722847,10591208,9373149,8125298 64098 NM_022141,AL031595,CH471138,AF237772,AK225929,AL355092,AL590887,BC034406,BX648942,CA440742,CR456480,CR607020,CR619524,CR620482 NP_071424,CAI22314,EAW73332,EAW73333,EAW73334,EAW73335,EAW73336,AAG27174,CAB90188,CAC37414,AAH34406,CAG30366,Q9HBI0,CAK54461,CAK54760 Hs.658995 GDB:11508684 protein-coding 1346433 PASD1 PAS domain containing 1 1580863 16344560,16112646,15162151,15122589,14702039,12477932,11256614,11076863 139135 NM_173493,AF274854,BX546454,CH471169,AK097552,AY270020,AY623425,BC040301,DB095017,DB523527 NP_775764,EAW99406,BAC05097,AAQ01136,AAT49049,AAH40301,Q8IV76,CAL37909 Hs.160594 protein-coding 1314594 PASK PAS domain containing serine/threonine kinase PAS domains regulate the function of many intracellular signaling pathways in response to both extrinsic and intrinsic stimuli. PASK is an evolutionarily conserved protein present in yeast, flies, and mammals.[supplied by OMIM] 1580863 17353931,17595531,15489334,15302935,15148392,14702039,12477932,12377121,12168954,11688972,11459942,10231361,9110174,8619474,8590280 23178 AC005237,AF067137,CH471063,AF387103,AK026769,AK056516,AL117400,BC020054,BC043495,BC050565,BC063585,CR749231,NM_015148,D50925,U79240 NP_055963,AAC23506,EAW71236,EAW71237,EAW71238,EAW71239,EAW71240,EAW71241,EAW71242,AAK69752,CAB55901,AAH43495,AAH50565,AAH63585,CAH18087,BAA09484,AAB50198,Q05BE4,Q14148,Q96RG2 Hs.706859 GDB:9784852 DKFZP434O051|DKFZp686P2031|KIAA0135|PASKIN|STK37 protein-coding 1606693 PATE expressed in prostate and testis 12477932,11880645 160065 NM_138294,AP003087,CH471065,AF462605,BC039863,BC107044 NP_612151,EAW67660,EAW67661,EAW67662,AAL68667,AAH39863,AAI07045,Q8WXA2 Hs.148565 MGC129554 protein-coding 1606423 PATL1 protein associated with topoisomerase II homolog 1 (yeast) 17936923,16381901,15489336,15302935,14702039,12477932,11230166,11076863 219988 AP000442,CH471076,AB065087,AK094193,AK127649,AK127943,AL831992,BC023255,BC048309,BC065264,BC109038,BC109039,BC111047,NM_152716,CR610274 NP_689929,EAW73850,EAW73851,BAB93524,BAC04305,CAD89916,AAH65264,AAI09039,AAI09040,AAI11048,Q0JUH4,Q86TB9,CAL37837 Hs.591960 FLJ36874|MGC125671|MGC125672 protein-coding 1318048 PATZ1 POZ (BTB) and AT hook containing zinc finger 1 The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. 1580863 10949935,10713105,18401526,15489334,15461802,12477932,11751862,11744704,11719514,10669750,10591208,9847074 23598 NM_014323,NM_032052,NM_032051,AC005003,CH471095,AB208787,AF119256,NM_032050,AF242522,AF254082,AF254083,AF254084,AF254085,AK291803,AL096880,AY028384,BC021091,BC051357,CR456613 NP_114439,NP_055138,NP_114441,NP_114440,AAF01349,EAW59965,EAW59966,EAW59967,EAW59968,EAW59969,EAW59970,EAW59971,BAD92024,AAF32518,AAF99602,AAG09031,AAG09032,AAG09033,AAG09034,BAF84492,CAB51404,AAK19024,AAH21091,CAG30499,Q59HH1,Q9HBE1,Q9HD72 Hs.517557 GDB:10795355 MAZR|PATZ|RIAZ|ZBTB19|ZNF278|ZSG|dJ400N23 protein-coding 69120 PAWR PRKC, apoptosis, WT1, regulator The tumor suppressor WT1 represses and activates transcription. The protein encoded by this gene is a WT1-interacting protein that itself functions as a transcriptional repressor. It contains a putative leucine zipper domain which interacts with the zinc finger DNA binding domain of WT1. This protein is specifically upregulated during apoptosis of prostate cells. 15671026,8943350,11585763,18281137,18085546,18041764,17893871,17883592,17881119,17332319,16969273,16966277,16720717,16382046,16369487,15831492,15657440,15489334,15359646,15316756,14755681,14627703,13680279,12897127,12717420,12685825,12644474,12565819,12477932,12242017,11910304,11755531,11278808,10393834,9790775,9701251,8889548,12917339,8797824,15246161,15146197,15090548 5074 NM_002583,AC027288,AC073569,AC073595,AF503628,AY300794,CH471054,BC007018,CA313080,CN280333,CR536549,U63809 NP_002574,AAM27453,AAP43693,EAW97346,EAW97347,EAW97348,EAW97349,AAH07018,CAG38786,AAC24947,Q96IZ0 Hs.643130 GDB:9848774 PAR4|Par-4 protein-coding 1350216 PAX1 paired box 1 The PAX genes, including PAX1, are a highly conserved family of developmental control genes that encode transcription factors and have been shown to play a role in pattern formation during embryogenesis in vertebrates (McGaughran et al., 2003 [PubMed 12774041]). See PAX7 (MIM 167410) for a discussion of paired box domain genes.[supplied by OMIM] 1580863 1358810,17764081,16207213,15489334,12833407,12774041,12504088,12477932,11780052,11423130,8863157,7981748,7909508,2501086,9671740 5075 NM_006192,AL035562,AY740018,CH471133,X15044,BC069134 NP_006183,CAB46996,AAU21037,EAX10180,CAA33146,AAH69134,P15863 Hs.349082 GDB:132398 HUP48 protein-coding 1313673 PAX2 paired box 2 PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor supressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. 1580863 9106533,8760285,18056486,17529925,17513325,17269592,16971658,16814811,16735463,16609680,16509931,16436683,16400326,15808183,15652857,15561999,15502805,14627715,14603255,14566649,14561758,12970747,12697057,12200151,12141441,11940591,11826030,11730657,11700324,11461952,11241473,11168927,11134340,11093271,10938089,10908331,10533062,9760197,9738017,9439670,9297966,9132492,8889548,8661132,8589702,8431641,8241771,7981748,7819127,7795640,1378753 5076 U45253,U45254,U45255,AY153483,AY153484,BM671839,L25597,M89470,NM_003987,NM_003990,NM_003988,NM_000278,NM_003989,AF515729,AL138762,AL589862,CH471066,L09747,U45245,U45247,U45248,U45249,U45250,U45251,U45252 AAN77899,AAN77900,AAA36417,AAA60024,Q02962,Q5SZP1,Q5W0L6,Q5W0L7,Q6YFJ7,Q6YFJ8,AAI41453,AAI48711,NP_003978,NP_003981,NP_003979,NP_000269,NP_003980,AAN77093,CAI17855,CAI17856,CAI17857,EAW49809,EAW49810,EAW49811,EAW49812,EAW49813,EAW49814,EAW49815,EAW49816,AAC41711,AAC63385 Hs.155644 GDB:138771 protein-coding 1351352 PAX3 paired box 3 This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. 1580942,1580943,1580944,1599944,1580863 11029584,9500554,10871843,8447316,18335505,18053811,18022385,17986608,17954266,17704541,17638879,17627390,17613043,17525748,17490646,17187370,17149730,16971891,16964289,16952014,16951257,16951170,16945326,16582099,16442263,16316407,15688409,15688035,15602708,15313887,15184910,15143176,15140004,14639621,12949970,12739027,12668617,12666593,12647804,12477932,12107410,12039929,11997098,11735247,11683776,11423130,11244500,10942418,10779847,10610023,10529415,10521655,10393185,10191090,9584079,9546061,9541113,9067759,8863157,8845842,8664898,8589691,8533800,8490648,8423616,8322830,8275086,8221646,8098985,7981674,7897628,7862145,7833953,7825605,7782066,7726174,7545913,7091186,6859126,2785681,2609099,2501086,1552554,1536170,1349198,1347149,1347148,1308353,1303193 1580942,1580943,1580944,1599944 5077 NM_181457,NM_181458,NM_181459,NM_181461,NM_000438,NM_013942,NM_001127366,AC010980,AC012591,AF156931,AJ007392,CH471063,L10614,S61511,S83614,U12258,U12259,U12260,U12261,U12262,U12263,NM_181460,X15043,X15253,AI399816,AK291278,AY251279,AY251280,BC063547,BC101299,BC101300,BC101301,BC101302,BC114363,CA389778,DN989642,L07483,S69369,S69370,U02309 NP_852125,NP_852122,NP_852123,NP_852124,NP_852126,NP_000429,NP_039230,NP_001120838,AAY14900,EAW70789,EAW70790,EAW70791,EAW70792,EAW70793,EAW70794,EAW70795,EAW70796,EAW70797,AAA91849,AAB26807,AAB21476,AAA80574,CAA33145,BAF83967,AAP13872,AAP13873,AAH63547,AAI01300,AAI01301,AAI01302,AAI01303,AAI14364,AAB30167,AAA80573,AAB30168,AAA03628,P23760,Q12777,Q494Z3,Q494Z4,Q53T90,Q6GSJ9,Q86UQ2,Q86UQ3,ABZ92174 Hs.42146 GDB:120495 CDHS|HUP2|MGC120381|MGC120382|MGC120383|MGC120384|MGC134778|WS1 protein-coding 1347682 PAX4 paired box 4 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. 1580863 9480859,17989064,17717051,17633464,17426099,16911636,16701883,16546275,16423628,16123375,15838687,15834548,15650323,15596543,15509590,15489334,15161765,12829700,12690205,12604352,12477932,12200761,11723072,11263967,10967107,9753306,9598721,9439631,8431641,8287686,7981748 5078 NM_006193,AC000359,AC073934,CH236947,CH471070,AB008913,AF043978,BC074761,BC107149,BC107150,DQ442656 NP_006184,EAL24318,EAW83633,EAW83634,BAA24506,AAD02289,AAH74761,AAI07150,AAI07151,ABD97848,O43316,Q1W386,Q3KNR4,Q3KNR5,ABZ92175 Hs.129706 GDB:138170 MGC129960 protein-coding 1352156 PAX5 paired box 5 This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternatively spliced transcript variants encoding different isoforms have been described but their biological validity has not been determined. 1580863 10524629,10524622,18343782,18192112,17717600,17682124,17635241,17626071,17535098,17529924,17476282,17431414,17102626,17050077,16680144,16541139,16518692,15492262,15385562,14594818,12731041,12612069,12609061,12524387,12453881,12221090,12153506,12054881,11877292,11799127,11781241,11779502,11460166,11134340,10811620,10748034,10533313,10455134,10197586,10022910,9486401,8943844,8650231,8431641,7981748,1516825,9742255 5079 AF074913,AF268279,AF386790,AF386791,AL161781,AL450267,CH471071,U56835,U56836,AF080573,NM_016734,AY463952,AY463953,AY463954,AY463955,AY463956,AY463957,M96944,U62539 NP_057953,AAC69188,AAK25737,AAK70869,AAK70870,EAW58294,EAW58295,EAW58296,EAW58297,EAW58298,EAW58299,AAB16832,AAB16833,AAC35286,AAR27590,AAR27591,AAR27592,AAR27593,AAR27594,AAR27595,AAA58397,AAB09533,Q02548,Q5VVI9,Q6S728,Q6S729,Q6S730,Q6S731,Q6S732,Q93057,Q9BXX4,AAI56190,AAI56928 Hs.654464,Hs.684503 GDB:135361 BSAP protein-coding 737459 PAX6 paired box 6 This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding either the same or different isoform have been found for this gene. 1358554,1601209,1601210,1601211,1580863 16098226,10441571,10747901,18334930,18332330,18273794,18241071,18070176,17948041,17908181,17901057,17898260,17896318,17893655,17679951,17653045,17595013,17568989,17485622,17417613,17318412,17202185,17148041,17031679,16873704,16803629,16785853,16712695,16637659,16604056,16582099,16543198,16511221,16407227,16303743,16115881,15918896,15889018,15757974,15735909,15677484,15659382,15629294,15489334,15389894,15143176,15086958,15079031,15066147,14872040,14702039,12953159,12923055,12868034,12789139,12731001,12721955,12710953,12552561,12477932,12325030,12324464,12107413,12107410,12043047,11850181,11358870,11350962,11309364,11069920,11036080,10955655,10610023,10506141,10359315,10346815,10234503,9931324,9856761,9792406,16344560,9538891,9482572,9281415,9147640,9138149,9056723,8889548,8640214,8364574,8162071,8111379,7958875,7951315,7909985,7757816,7698003,7668281,7666404,7550230,7065945,1684738,1345175,1302030,16189514 1358554,1601209,1601210,1601211 5080 AK094249,AK314470,AY047583,AY707088,BC011953,BE221553,BI789171,BI816814,BM313099,BM557761,BM725029,BP394398,BP394576,BU072567,BX089704,BX114225,BX440968,BX640762,CA397536,CD673930,DA183294,F07809,M77844,M93650,DA078958,NM_001604,NM_000280,NM_001127612,AF548390,AY307164,AY337852,AY956821,CH471064,DQ251039,S70304,S70305,S70307,Z83307,Z95332,AB209177,AK074881,AK094172 AAK95849,AAU12168,AAH11953,CAE45868,AAA59962,AAA59963,AAA36416,P26367,Q2XU31,Q56H36,Q59GD2,Q6F6J3,Q6F6J4,Q6F6J5,Q6F6J6,Q6VMP0,Q7Z5Y4,Q8IVH0,ABM82362,ABM85538,NP_001595,NP_000271,NP_001121084,AAN86817,AAP74576,AAR10412,AAX56950,EAW68233,EAW68234,EAW68235,EAW68236,ABB55263,AAB30690,AAB30691,AAB30692,CAG38083,CAG38084,CAG38085,CAG38086,CAG38087,CAG38359,CAG38360,CAG38361,CAG38362,CAG38363,BAD92414 Hs.270303,Hs.502235,Hs.591993,Hs.608698,Hs.611376 GDB:118997 AN|AN2|D11S812E|MGC17209|MGDA|WAGR protein-coding 1604064 PAX7 paired box 7 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown. 17613043,16830101,16710414,15688409,15527970,15184910,12865925,12647804,12477932,12234688,12039929,11601392,9731536,8789435,8431641,8104868,8012384,7981748,7902328,7527137,2501086,9339373,10871843,17954266 5081 NM_002584,NM_013945,AJ130875,AL021528,CH471134,X15042,X15251,X96744,X96745,X96746,X96747,X96748,Z64432,BC121165,BC121166,DQ322591,X96743,Z35141 NP_002575,NP_039236,CAA16432,EAW94853,EAW94854,EAW94855,EAW94856,CAA65521,CAA65522,AAI21166,AAI21167,ABC48797,CAA65520,CAA84513,P23759,Q0VA99,Q2PJS5 Hs.113253 GDB:136005 HUP1|PAX7B protein-coding 730849 PAX8 paired box 8 This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternateively spliced transcript variants encoding different isoforms have been described. 1580863,1600298 9590296,10377248,18084247,17614769,17468187,17437516,17064757,16814811,16763387,16613988,16352687,16344560,16219715,16179407,16029487,15961562,15718293,15489334,15362967,15356023,15355349,15062550,14970209,14702039,14623893,14531730,12970322,12727991,12699588,12519876,12477932,12441357,12161538,11923479,11502839,11232006,11134340,10924503,9590297,9388203,9373149,8889548,8431641,8413205,8125298,7981748,7737192,1337742 1600298 7849 AK292191,AU141429,BC001060,BG398792,BM726535,CR936798,L19606,S77904,S77905,S77906,X69699,NM_013992,NM_013953,NM_013951,NM_003466,NM_013952,AC016683,CH471217,X99590,AK023855,AK225538 BAF84880,AAH01060,AAA03539,AAB34216,AAB34217,AAB34218,Q06710,Q4ZG35,Q99573,ABM83206,ABM86406,NP_054698,NP_039247,NP_039245,NP_003457,NP_039246,AAX88880,EAW73629,EAW73630,EAW73631,EAW73632,EAW73633,EAW73634,EAW73635,EAW73636,EAW73637,EAW73638,EAW73639,CAA67903 Hs.469728 GDB:136447 protein-coding 1352334 PAX9 paired box 9 This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 9 gene is unknown but it may involve development of stratified squamous epithelia as well as various organs and skeletal elements. 1580863 18353002,18028048,17910065,17697174,17412341,16651263,16344560,16333316,16247549,16137495,15615874,15489334,14689302,14607846,14571272,12833407,12786960,12657635,12490878,12477932,12115874,12107448,11941488,11781684,11374781,10899593,10615120,9021154,7981748 5083 NM_006194,AJ238381,AJ238382,AJ238383,AL079303,AY338688,CH471078,L09745,AB248958,AW293964,BC001159,DA667732,DB233208,U59628,X92850 NP_006185,CAB41533,AAQ16120,EAW65853,BAE79273,AAH01159,AAD09487,CAA63436,O95616,P55771,Q2L4T1,Q7Z4A7,ABW03825,ABW03512 Hs.132576,Hs.609574 GDB:138774 protein-coding 1316804 PAXIP1 PAX interacting (with transcription-activation domain) protein 1 This gene is a member of the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation of chromatin and progression through mitosis. 17690115,17500065,15456759,14702039,14576432,12588986,12477932,11940591,10908331,9847074,9225980,16189514 22976 AC093726,CH236962,CH471149,AK093584,AK123044,AK123600,AK126674,NM_007349,BC008328,BC033781,BQ222021,BX538201,BX640616,CR620095,CR993144,U80735 NP_031375,AAP21865,EAX04524,EAX04525,BAC85523,BAC85657,AAH08328,AAH33781,CAD98066,CAE45762,AAB91434,Q6ZW49 Hs.443881 GDB:9957808 CAGF28|CAGF29|FLJ41049|PACIP1|PAXIP1L|PTIP|TNRC2 protein-coding 1343545 PBCRA1 progressive bifocal chorioretinal atrophy 1 9719369,9691169 7948 GDB:3763333 1345300 PBEF2 pre-B-cell colony enhancing factor 2 737633 12477932,8289818 737633 646309 NG_005593,AL590730 bA92J19.4 pseudo 1353538 PBG1 pancreatic beta cell glycoprotein 1 5084 GDB:9315107 1351038 PBK PDZ binding kinase This genes encodes a serine/threonine kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. This mitotic kinase may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. 1580863 10779557,17631144,17545598,17482142,17081983,16291951,16189514,16169070,15761153,15541388,15489334,14757441,14702039,12620389,12477932,11783945,11378444,10781613,15729360,15782160 55872 NM_018492,AC104997,CH471080,AB027249,AB027250,AF189722,AF237709,AK027291,BC015191,BI461026,CR602995,CR623970 NP_060962,EAW63536,EAW63537,BAA99576,BAA99577,AAF69107,AAF71521,BAB55019,AAH15191,Q96KB5,ABM84068,ABM87426 Hs.104741 FLJ14385|Nori-3|SPK|TOPK protein-coding 1606247 PBLD phenazine biosynthesis-like protein domain containing 16189514,15806103,15489334,14702039,12477932,11355021,1286669 64081 NM_022129,NM_001033083,AC016395,CH471083,AB049758,AI114748,AI439144,AK027673,AK092826,BC009738,CB121561 NP_071412,NP_001028255,EAW54273,EAW54274,EAW54275,EAW54276,EAW54277,EAW54278,BAB16606,BAB55285,BAC03986,AAH09738,P30039,Q8NAD7 Hs.198158 FLJ14767|FLJ35507|MAWBP|MAWDBP protein-coding 1353155 PBM1 pre-B-cell monocytic leukemia partner 1 5085 GDB:135687 1346457 PBOV1 prostate and breast cancer overexpressed 1 1580863 15489334,14574404,12553037,12477932,11156405 59351 NM_021635,AL031433,CH471051,AF189269,AF189270,BC069109 NP_067648,CAI19661,EAW47919,AAG17117,AAG17118,AAH69109,Q9GZY1 Hs.302016 UC28|UROC28|dJ171N11.2 protein-coding 1348466 PBPP1 prostatic binding protein pseudogene 1 326614 NG_002604,AL359240 pseudo 1605656 PBRM1 polybromo 1 12672490,11078522,12368262,15985610,18339845,17320048,17081983,16964243,16344560,16094384,15735765,14702039,12487023,12477932,11780067,11483580,8889549,11591653 55193 NM_018313,NM_018165,NM_181042,AC104446,AC112215,CH471055,AF177387,AF197569,AF225870,AF225871,AF225872,AK001507,AK001926,AK056541,AL050083,AY281068,BC015323,BC089409,BC115009,BC115010,BC115011,BC116450,BC129934,BC129935,BE672944,BG778619,BU171600,BU619411,AA047886,CA438315,CR610723,CV573455,DA039085 NP_060783,NP_060635,NP_851385,EAW65239,EAW65240,EAW65241,EAW65242,EAW65243,EAW65244,EAW65245,EAW65246,EAW65247,EAW65248,AAG48933,AAG34760,AAG48939,AAG48940,AAG48941,BAA91728,BAA91982,BAB71210,AAP34197,AAH15323,AAH89409,AAI15010,AAI15011,AAI15012,AAI29935,AAI29936,Q1RMD1,Q1RMD2,Q5EBM5,Q86U86,Q96MS2,Q9H3B1,Q9NUX9,Q9NVM2 Hs.189920 BAF180|MGC156155|MGC156156|PB1 protein-coding 1343781 PBT piebald trait 5086 GDB:120260 1317860 PBX1 pre-B-cell leukemia homeobox 1 1580863 16769578,16710414,16637071,16140554,15979049,15770739,15507449,15489334,15161102,14536079,12923056,12724421,12609849,12487626,12477932,12145285,11912494,11834421,11571641,11279116,11267683,11069920,10523646,10052460,10500199,18312624,18093541,17200190,17131398,10471746,10373562,10082572,9482740,9482739,8657138,8327485,7910944,1967983,1967982,16914730,1682799,1671560 5087 NM_002585,AF313404,AL357568,AL359255,AL390119,AL391001,CH471067,AK291415,BC101578,BT006705,BX647313,CR604075,CR749446,M31170,M86546 NP_002576,AAG30941,CAI14854,CAI14855,CAI14856,EAW90738,EAW90739,EAW90740,EAW90741,BAF84104,AAI01579,AAP35351,CAH18284,AAA36484,AAA60031,P40424,Q5T486,Q5T487,Q68DD6 Hs.654412 GDB:125351 DKFZp686B09108|MGC126627 protein-coding 1350680 PBX2 pre-B-cell leukemia homeobox 2 This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. 1580863 14667819,16344560,10082572,9482739,8661110,7910944,7835890,7759099,1682799,16189514,14656967,14574404,12871956,12609849,12477932,12054735,11438208,15489334 5089 NM_002586,AL662830,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,D28769,U89336,X80700,BC003111,BC082261,BQ182713,BT009823,CR601493,DB162975,X59842 NP_002577,CAI17539,CAI18358,CAI41814,CAM26228,CAQ06600,EAX03613,EAX03622,CAQ10704,CAQ09629,BAA05957,AAB47490,CAA56717,AAH82261,AAP88825,CAA42503,P40425,Q5STG8,Q6NW39,Q7KZE5 Hs.509545,Hs.534342 GDB:306356 G17|HOX12|PBX2MHC protein-coding 1349399 PBX2P1 pre-B-cell leukemia homeobox 2 pseudogene 1 7835890,7759099,1682799 5088 NG_002434,AC018450 GDB:125352 PBX2|PBXP1 pseudo 1316248 PBX3 pre-B-cell leukemia homeobox 3 1580863 1682799,16189514,15489334,15466398,15164053,14702039,12477932,11571641,11438208,10082572,7910944 5090 NM_006195,AL358074,AL445186,AL627303,CH471090,AF355141,AF355142,AK027170,AK092148,AK289376,BC016977,BC094883,X59841,CR620669 NP_006186,CAI40241,CAI40242,CAI40243,CAI40244,CAI40245,EAW87635,EAW87636,EAW87637,EAW87638,AAL09477,AAL09478,BAF82065,AAH16977,AAH94883,CAA42502,P40426,Q5JS99,Q5JSA0,Q5JSA1,Q5VXL2,Q96AL5 Hs.428027 GDB:125353 protein-coding 1345476 PBX4 pre-B-cell leukemia homeobox 4 This gene encodes a homeodomain protein with similarity to a transcription factor involved in translocations in pre-B-cell leukemias. The presence of a homeobox domain suggests that this protein acts as a transcription factor, but this function has not been demonstrated. 1580863 18193044,15489334,14702039,12477932,11335119 80714 NM_025245,AC002306,AC011448,CH471106,AJ300182,AK097427,BC033067,BC141859,BG683004 NP_079521,EAW84834,EAW84835,CAC28212,AAI41860,Q9BYU1,AAI43093 Hs.466257 GDB:11507378 pre-b-cell leukemia transcription factor 4 protein-coding 1313054 PBXIP1 pre-B-cell leukemia homeobox interacting protein 1 1580863 10825160,16713569,16189514,14702039,12477932,12360403,7505766 57326 NM_020524,AL451085,CH471121,AF221521,AK022497,AK023219,BC016852,U00952 NP_065385,CAI13238,CAI13239,CAI13240,CAI13241,EAW53174,EAW53175,EAW53176,AAG02026,BAB14059,BAB14471,AAH16852,Q96AQ6,ABZ92129 Hs.505806 HPIP pre-b-cell leukemia transcription factor interacting protein 1 protein-coding 733418 PC pyruvate carboxylase This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. 1580863,1601549,737741,1601554,1300048 8048912,12437512,7918683,16729965,18297087,16344560,16325442,15489334,15146197,12477932,12142734,12112657,10229653,9597748,9585612,9585002,8349677,7822739,7805591,7698008,6548474,3555348 1601549,737741,1601554 5091 NM_000920,NM_001040716,NM_022172,AP000485,AP003176,CH471076,BC011617,CN267865,CR618813,CR620429,DA542083,K02282,M26122,S72370,U04641,U30889,U30890,U30891 NP_000911,NP_001035806,NP_071504,EAW74568,EAW74569,EAW74570,EAW74571,EAW74572,AAH11617,AAA60033,AAA36423,AAB31500,AAA99537,AAA82937,P11498 Hs.89890 GDB:119472 PCB protein-coding 1347053 PCA3 prostate cancer antigen 3 18061575,15067329,14607216,12814669,12680228,10606244 50652 NR_015342,AF103908,AF103907,AY894120,DQ374660 Hs.663766 GDB:10796521 DD3 miscrna 1314209 PCAF p300/CBP-associated factor CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. 1580863 12887892,12435739,8684459,10365964,10891508,18250157,18247445,17982102,17908689,17884818,17882273,17611664,17468105,17317667,17293853,17226766,16055439,16050810,15834423,15647279,15616580,15611041,15572685,15489334,15482860,15286281,15273251,15153330,15123636,14980312,14769800,14767476,14752096,14747462,14661947,14657027,14645221,14614455,14581481,16904069,16878158,16829519,16696975,16630892,16543236,16415179,16332960,16096645,16060659,14500836,12937166,12917345,12888487,12813456,12601814,12501250,12486002,12477932,12419806,12391158,12374802,12154097,12101239,12082103,12068014,12032084,12015309,11994312,11956210,11937047,11931765,11748222,9659901,9445475,9346901,9296499,9267036,8945521,1602151,17168834,16838299,16146763,16046164,16035254,15719065,15183343,16135803,16362936,15171254,9710619,11864601,12660246,11509179,12815053,11486036,15992539,15350211,9223281,15044952,11741939,11689696,11581372,11568182,11564863,11547919,11509661,11463815,11404076,11304541,11250901,11118214,11058129,11046145,10944526,10852958,10811635,10779504,10777601,10777539,10766811,10753971,10747963,10619020,10545121,10373431,10318892,10207070,10025406,10022868,9892017,9891054,9880483,9824164,9744860,9742083,9733796,9722949,9674425 8850 NM_003884,AL832173,BC060823,BC070075,CR592587,U57317,AC099057,CH471055,CS330046 CAL00151,AAH60823,AAH70075,AAC50890,Q92831,NP_003875,EAW64305,EAW64306 Hs.533055 GDB:9864231 CAF|KAT2B|P|P/CAF protein-coding 1347827 PCANAP2 prostate cancer associated protein 2 61503 10613842 61503 50629 AF109299 Hs.278695 GDB:10796250 IPCA-2 protein-coding 1349133 PCANAP7 prostate cancer associated protein 7 61503 61503 AF109302 GDB:10796254 1354136 PCANAP8 prostate cancer associated protein 8 61503 10613842 61503 50633 AF109303 Hs.278695 GDB:10796256 IPCA-8 protein-coding 1343740 PCAP predisposing for prostate cancer 9585607 7834 GDB:9864561 2293374 PRSTS278_H 1604063 PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). 16189514,1763325,16423549,15740590,15489334,12565907,12477932,11980910,11937441,11668623,11461190,10727395,10098606,9760199,9585615,9391049,9092652,8889548,8682201,8504250,8486378,8444860,8352282,8188266,7763270,17353931,8618906 5092 NM_000281,AC073176,CH471083,L15410,L15427,L15428,L41560,AA397961,AF082858,BC006324,BM724638,BQ685076,CR542194,L41559,M83742 Q6LEE1,Q6LEE2,NP_000272,EAW54417,AAA35670,AAA35671,AAA35672,AAA69662,AAD25732,AAH06324,CAG46991,AAA69663,P61457,Q6FGB3,Q6LEE0 Hs.3192 GDB:138478 DCOH|PCBD|PCD|PHS protein-coding 1353306 PCBD2 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 11980910,15546961,15489334,15182178,12646162,12477932,11591653,11230166,8889548,17353931 84105 BC054021,BU730195,NM_032151,AC006077,AC008670,CH471062,AF499009,AK098495,AL136721 CAB66655,AAH54021,Q9H0N5,NP_115527,EAW62229,AAM18136 Hs.710014 DCOH2|DCOHM|PHS2 6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (tcf1) 2 protein-coding 1353218 PCBP1 poly(rC) binding protein 1 This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. 1580863 7556077,7607214,8152927,16713569,12226669,17622584,17389360,17383969,17081983,16964243,16775011,16510139,16248985,15933215,15635413,15514164,15489334,15456888,15302935,15246275,15169918,11790298,11591653,10936052,10455157,10373504,9234743,8855318,8833161,14612387,12970749,12933794,12890803,12527772,12477932,12431987,12414943,12011088 5093 CR596610,CR598326,CR600333,CR613158,CR618539,CR620735,CR624156,U24223,X78137,Z29505,NM_006196,AC016700,CH471053,AK130439,BC039742,CR593186 AAA91317,CAA55016,CAA82631,Q15365,Q53SS8,NP_006187,AAX93191,EAW99834,AAH39742 Hs.2853 GDB:1313472 HNRPE1|HNRPX|hnRNP-E1|hnRNP-X protein-coding 1320065 PCBP2 poly(rC) binding protein 2 The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5'-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. Thsi gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of only three have been characterized to date. 16094384,15489334,15331611,15231748,14702039,14612387,12970749,12527772,12515719,12477932,12414943,12011088,10936052,10772858,10455157,10373504,10068686,9373149,9234743,9223526,8871564,8855318,8833161,8125298,16189514,11747608,7607214,16713569,7556077,12226669,18174314,18086560,17672918,17581994,17526645,17426136,17219427,17145707,17081983,16341674,16186123 5094 NM_001098620,NM_005016,AC023509,AC068889,CH471054,CS185528,AB188306,AB208825,AK023529,AK123458,AK130583,AK225357,AK292141,BC001155,BC035420,BC071942,BC107688,BE748080,BM764315,BU844465,CR590150,CR602496,CR603638,CR606382,CR620547,CX164318,X78136,NM_031989 NP_114366,NP_001092090,NP_005007,EAW96706,EAW96707,EAW96708,EAW96709,EAW96710,EAW96711,CAJ42709,BAD36897,BAD92062,BAF84830,AAH01155,AAH71942,AAI07689,CAA55015,Q15366,Q32Q82,Q59HD4,Q68Y55,Q6IPF4 Hs.546271 GDB:1313473 HNRPE2|MGC110998|hnRNP-E2 protein-coding 1352135 PCBP2P1 poly(rC) binding protein 2, pseudogene 1 10936052,10830953 54040 NG_000916,AF064859,AF129408,AJ003060 GDB:10796389 pseudo 1351102 PCBP2P2 poly(rC) binding protein 2, pseudogene 2 10936052 57059 GDB:10796872 1316622 PCBP3 poly(rC) binding protein 3 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple polyadenylation sites exist for this gene. 1580863 10936052,7556077,16780588,16713569,15489334,14702039,14612387,12477932,12358435,12003487,10830953 54039 NM_020528,AJ011931,AJ239328,AL592528,CH471079,AF176329,AK094301,AY780793,BC012061,CR614371,CR619634 NP_065389,EAX09323,EAX09324,EAX09325,EAX09326,AAG09240,BAC04327,AAV98363,AAH12061,P57721,Q5MJP6 Hs.474049 GDB:10796391 ALPHA-CP3 protein-coding 1626530 PCBP3OT poly(rC) binding protein 3 overlapping transcript 17525332 100113383 AK126016 BAC86394,Q6ZU33 Hs.474049 FLJ44028 protein-coding 1317376 PCBP4 poly(rC) binding protein 4 This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. 1580863 10891498,10936052,17973258,16713569,15489334,14702039,14612387,12477932,12003487,11984006,11313928,9373149,8125298,7556077 57060 NM_033010,NM_020418,NM_033009,AC115284,AF257772,CH471055,AF092441,AF141340,AF176330,AF257770,AF257771,NM_033008,AK001244,AK023993,AK225815,BC003008,BC004153,BC017098,BX647811,CR618312,CR619270,CR620579 Q7Z4Y9,Q9C064,Q9GZT1,Q9HCU2,NP_127501,NP_127503,NP_065151,NP_127502,AAG02186,EAW65165,EAW65166,EAW65167,EAW65168,EAW65169,EAW65170,EAW65171,EAW65172,EAW65173,EAW65174,EAW65175,EAW65176,EAW65177,AAP97216,AAG49443,AAG09241,AAG02184,AAG02185,BAB14761,AAH03008,AAH04153,AAH17098,P57723 Hs.20930 GDB:10796874 LIP4|MCG10 protein-coding 736733 PCCA propionyl Coenzyme A carboxylase, alpha polypeptide The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Two transcript variants encoding different isoforms have been found for this gene. 1580863,1600306 3460076,17966092,17051315,16344560,15890657,15489334,15059621,14702039,12559849,12477932,12385775,12226704,11592820,11136555,10502773,10329019,10101253,9373149,8895530,8434582,8188292,8125298,7656816,3687944,3555348,2740237,1427880 1600306 5095 M26121,S55656,S79219,X14608,Z36837,NM_001127692,AL136526,AL353697,AL355338,AL356575,AY035808,CH471085,AF385926,AK055982,AK225288,AK225299,BC000140,CR620827,DA781564,M13572,NM_000282 AAA60035,AAA36424,AAB25345,AAB35181,CAA32763,P05165,Q16380,Q5VXU2,Q8WXQ7,NP_000273,NP_001121164,CAI39554,CAI39556,CAI39557,CAI40431,CAI40432,CAI40434,CAH70370,AAK61392,EAX09032,EAX09033,EAX09034,AAL66189,AAH00140 Hs.80741 GDB:119473 protein-coding 731965 PCCB propionyl Coenzyme A carboxylase, beta polypeptide 1600331,1580863,1300048 8225321,8125298,7092804,6245185,3460076,2895916,2587127,2154743,240144,8188292,17051315,16344560,15489334,15059621,14671302,12757933,12559849,12477932,12189489,12007220,11749052,10502773,10447268,9683601,9373149,8411997 1600331 5096 NM_000532,AC069524,AJ006487,AY399219,CH471052,M31167,M31169,AB209009,AF217984,AK130359,AK225215,AK225733,AL831978,BC005909,BC013768,BC018013,BC053661,CR601703,CR603056,CR607835,CR609162,CR614392,CR618864,CR621266,CR624803,DA090969,M13573,S67325,X73424 NP_000523,CAA07066,EAW79116,EAW79117,EAW79118,AAA60037,AAA60038,BAD92246,AAG17227,CAD89898,AAH13768,AAH18013,AAH53661,AAA60036,AAB28900,CAA51825,P05166,Q59GV0,Q86TD7,Q8WVH4,Q9HBR7 Hs.63788 GDB:119474 DKFZp451E113 protein-coding 1318287 PCDH1 protocadherin 1 This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. 1580863 8508762,16303743,15592455,15345747,15231748,12477932,10835267,10817752,10716726,9132272,8889548,16189514 5097 NM_032420,NM_002587,AC094107,CH471062,CS174722,AK075233,AK289512,BC035812,BC051287,BC075821,BU743106,CR610421,CR621435,L11369 NP_115796,NP_002578,EAW61900,EAW61901,EAW61902,EAW61903,CAJ34554,BAF82201,AAH35812,AAH51287,AAA36418,Q08174,Q86VB4,Q8IUP2 Hs.79769 GDB:207247 MGC45991|PC42|PCDH42 protein-coding 1348202 PCDH10 protocadherin 10 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Alternatively spliced transcripts encode isoforms with unique cytoplasmic domains. 1580863 16247458,12477932,11549318,11230163,10835267,10817752,10718198,10716726,10380929,8012384 57575 NM_032961,NM_020815,AC105383,CH471056,Z60272,AB037821,AK024636,AL157470,AY013874,BC111560,CR595751,CR625417 NP_116586,NP_065866,AAY41018,EAX05151,EAX05152,BAA92638,BAB14940,CAB75667,AAK21987,AAI11561,Q14DV7,Q4W5F6,Q96SF0,Q9H7F2,Q9NSR3,Q9P2E7 Hs.192859 GDB:11508623 DKFZP761O2023|KIAA1400|MGC133344|OL-PCDH|PCDH19 protein-coding 1353305 PCDH11X protocadherin 11 X-linked This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains. 10644456,16825765,15772651,14727141,14660691,12815422,11003707,10835267,10817752,10718198,10716726,9110174,8619474 27328 NM_032967,NM_032968,NM_032969,NM_014522,AC004388,AJ564961,AJ564962,AJ564963,AY861432,AY861433,AY861434,AY861435,U79247,AC004478,AL121869,AL133274,AL133321,AL136362,AL590122,AB026187,AB026188,AB037747,AF206516,AF217288,AF332218,AF332219,AJ276804,AJ564931,AJ564932,AJ564933,AJ564934,AJ564935,AJ564936,AJ564938,AJ564939,AJ564942,AJ564945,AJ564946,AJ564947,AJ564959,AJ564960 NP_116749,NP_116750,NP_116751,NP_055337,CAD92433,CAD92434,AAX56122,AAX56123,AAX56124,AAX56125,Q70LT4,Q70LT5,Q9BZA7,Q9P2X4,CAD92432,BAA90765,BAA90766,BAA92564,AAK82655,AAK82656,AAK13470,AAK13471,CAC13123,CAD92410,CAD92411,CAD92412,CAD92413,CAD92414,CAD92415,CAD92417,CAD92418,CAD92421,CAD92424,CAD92425,CAD92426,CAD92430,CAD92431 Hs.655673 GDB:10796047 PCDH-X|PCDH11|PCDHX|PCDHY protein-coding 1349634 PCDH11Y protocadherin 11 Y-linked This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its most closely related cadherin superfamily member is located in this homologous region on the X chromosome. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Transcripts arising from alternative splicing encode isoforms with N- and C-terminal variation. 1580863 17357069,16637074,16331680,14727141,14660691,12815422,12420223,11003707,10835267,10817752,10716726,10644456 83259 NM_032971,NM_032973,NM_032972,AC010081,AC010129,AC010685,AC010722,AC012067,AC012667,AA865592,AF277053,AF332216,AF332217,AJ276803,AJ564937,AJ564948,AJ564949,AJ564956,AJ564958,AJ564964,AJ564966,AJ564969,AJ564970,AJ564971,AK289676 NP_116753,NP_116755,NP_116754,AAL55729,AAK13468,AAK13469,CAC13122,CAD92416,CAD92427,CAD92429,CAD92435,CAD92437,CAD92440,CAD92441,CAD92442,BAF82365,Q6KER0,Q70LR4,Q70LR5,Q70LT6,Q9BZA8,AAI52898 Hs.661308 GDB:11504539 PCDH-PC|PCDH11X|PCDH22|PCDHY protein-coding 1348823 PCDH12 protocadherin 12 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. 1580863 10380929,10716726,14702039,12975309,12477932,11063261,10835267,10817752,9651350 51294 NM_016580,AC005740,CH471062,AB026893,AF231025,AF240635,AK023785,AK024140,AK027282,AK226049,AY358428,BC042634,BC052973 NP_057664,EAW61898,BAA95162,AAF61931,AAF73962,BAB14677,BAB14837,BAB55016,AAQ88794,AAH42634,AAH52973,Q7Z738,Q8IUP8,Q9NPG4 Hs.439474 GDB:10796523 VE-cadherin-2|VECAD2 protein-coding 1353280 PCDH15 protocadherin 15 This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10. 1580863 16679490,11398101,14570705,11487575,18484607,17706913,17277737,16887306,15660226,15537665,15028842,12711741,11138007 65217 NM_033056,AC013737,AC016817,AC024073,AC027671,AC051618,AL353784,AL356114,AL360214,AL365496,AL391356,CH471083,AK126923,AL834134,AW005431,AY029205,AY029237,AY388963 NP_149045,CAH72389,CAH72390,CAM16784,CAM16786,CAM16787,CAM16788,CAM16789,CAM16790,CAM16791,CAM16792,CAH71768,CAH71769,CAM15115,CAM15117,CAM15118,CAM15119,CAM15120,CAM15121,CAM15122,CAM15123,CAM15124,CAM15125,CAI15200,CAI15201,CAM21534,CAM21536,CAM21537,CAM21538,CAM21539,CAM21540,CAM21541,CAM21542,CAM21543,CAM21544,CAH73916,CAH73917,CAM19867,CAM19868,CAM19870,CAM19871,CAM15116,CAM19874,EAW54151,EAW54152,CAD38850,AAK31581,AAK31804,AAR26468,Q5VY38,Q96QU1,AAI56451,CAM19873 Hs.672170 GDB:11498174 DFNB23|DKFZp667A1711|USH1F protein-coding 1312379 PCDH17 protocadherin 17 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. 1580863 17672918,16344560,15489334,15342556,15057823,14702039,12477932,11082270,10835267,10817752,10716726 27253 NM_001040429,AL137503,AL137505,AL445216,AL445288,CH471124,AF029343,AK001134,AK289980,BC028165,BF511144,BP286383,DA458702 NP_001035519,EAW52059,EAW52060,EAW52061,AAB84144,BAF82669,AAH28165,O14917 Hs.106511 GDB:11508552 PCDH68|PCH68 protein-coding 1314160 PCDH18 protocadherin 18 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. 1580863 12477932,11716507,11549318,11082270,10997877,10835267,10817752,10716726 54510 NM_019035,AC142278,AC144556,CH471056,AB046782,AK292018,AL137471,AW244162,BC022227,BC071581,BC093815,BX647786 NP_061908,EAX05139,EAX05140,EAX05141,BAB13388,BAF84707,CAB70755,AAH93815,CAI46014,Q52LS2,Q5HYG2,Q9HCL0,Q9NT87 Hs.591691 GDB:11508553 DKFZP434B0923|KIAA1562|PCDH68L protein-coding 1354208 PCDH19 protocadherin 19 Protocadherins form a subfamily of calcium-dependent cell-cell adhesion molecules in the cadherin superfamily. Protocadherin-10 belongs to a subclass of protocadherins that share a highly conserved 17-amino acid cytoplasmic motif (Wolverton and Lalande, 2001 [PubMed 11549318]).[supplied by OMIM] 16344560,16261168,15772651,14702039,11549318,10718198,8889548 57526 NM_001105243,NM_020766,AL355593,CH471115,AB037734,AK055951,AK096591,BM975868,CR749278,DA500179,EF676096 NP_001098713,NP_065817,EAX02804,EAX02805,BAA92551,CAH18133,ABX58058,Q8TAB3 Hs.4993 GDB:11507384 DKFZp686P1843|KIAA1313 protein-coding 1314837 PCDH20 protocadherin 20 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. 1580863 15489334,14702039,12477932,11082270,10835267,10817752,10716726,8012384 64881 NM_022843,AL162575,AL592490,CH471124,Z60483,AF169693,AK025871,AK094680,AK289924,AL833830,BC027907 NP_073754,EAW52085,AAF89690,BAB15265,BAF82613,CAD38690,AAH27907,Q5VTE1,Q8N6Y1,Q9H6J4 Hs.391781 GDB:11508548 FLJ22218|PCDH13 protein-coding 737398 PCDH21 protocadherin 21 This gene is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, six cadherin repeat domains and a unique cytoplasmic region. This non-classical cadherin appears to be exclusively expressed in the mitral and tufted cells in the main and accessory olfactory bulbs of the brain, suggesting a possible role in the formation and maintenance of neuronal networks. 633048,1580863 16288196,12477932,11597768 633048 92211 NM_033100,AC022389,CH471142,AB053448,AK124752,AL080188,BC038799 NP_149091,EAW80361,EAW80362,EAW80363,EAW80364,BAB61905,CAH10732,AAH38799,Q96JP9 Hs.137556 GDB:11508674 DKFZp434A132|KIAA1775|PRCAD protein-coding 1606556 PCDH24 protocadherin 24 This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. The kidney-expressed gene product has a signal peptide, nine cadherin repeat domains and a unique cytoplasmic region. This protocadherin represents a new candidate for tumor suppression. 12117771,15534908,14702039,12477932,11082270,9373149,8889549,8125298 54825 NM_017675,AC091934,CH471195,AA130780,AB047004,AK000131,AK000390,AK225217,BC130282,BX478954 NP_060145,EAW85066,EAW85067,EAW85068,EAW85069,BAB40777,BAA90962,AAI30283,Q9BYE9 Hs.4205 FLJ20124|FLJ20383|MGC163154|PC-LKC|PCLKC protein-coding 1346973 PCDH7 protocadherin 7 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. 1580863 9615233,17081983,15592455,15302935,12477932,10835267,10817752,10716726,10571067 5099 NM_032457,NM_002589,NM_032456,AC097716,AC098595,AC107394,AC110766,AC112239,CH471069,AB006755,AB006756,AB006757,AI041228,BC020338,BC040983,BG289962 NP_115833,NP_002580,NP_115832,AAY40944,EAW92861,EAW92862,EAW92863,EAW92864,EAW92865,BAA25194,BAA25195,BAA25196,O60245,Q4W5C4 Hs.479439 GDB:9120632 BH-Pcdh|BHPCDH protein-coding 735353 PCDH8 protocadherin 8 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. 1580863 9787079,16713569,15489334,12884975,12477932,11230163,10835267,10817752,10383464,10380929,9315676,10716726 5100 O95206,Q5TAN1,Q5TAN2 NM_002590,NM_032949,AF018664,AL136359,AL139085,CH471124,AF061573,AY013873,BC036025 NP_002581,NP_116567,CAI14110,CAI14111,EAW52049,EAW52050,EAW52051,AAC70009,AAK21986,AAH36025,O95206,Q5TAN1,Q5TAN2,ABM84265 Hs.19492 GDB:9836229 ARCADLIN|PAPC protein-coding 1314916 PCDH9 protocadherin 9 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal receptor that localizes to synaptic junctions and is putatively involved in specific neuronal connections and signal transduction. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes 6 cadherin domains and a transmembrane region. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 15057823,14702039,10835267,10817752,10716726,9787079 5101 NM_020403,NM_203487,AL136999,AL138682,AL138814,AL160254,AL355173,AL356305,AL450107,AL603863,CH471093,AF169692,AI300218,AK054661,AK057768,AL834258,BC150296,BX537422,R38168 Q9HC56,Q8N3K7,NP_065136,NP_982354,CAI12502,CAM13771,CAH72758,CAH72759,EAW80499,AAF89689,CAD38933,AAI50297,CAD97664,Q5VT82,Q7Z3U0 Hs.654709 GDB:9836231 protein-coding 1352837 PCDHA1 protocadherin alpha 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15372022,11230163,10835267,10817752,10737800,10716726,10662547 56147 NM_018900,NM_031411,NM_031410,NG_000016,AC005609,AC008468,AC010223,AF152305,AF152479,AF169695,BF089693 NP_061723,NP_113599,NP_113598,AAC34325,AAD43699,AAD43740,AAF89692,Q9Y5I3,AAI66697 Hs.199343 GDB:10796525 PCDH-ALPHA1 protein-coding 1352620 PCDHA10 protocadherin alpha 10 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15372022,11230163,10835267,10817752,10716726,10662547 56139 NM_018901,NM_031860,NM_031859,NG_000016,AC005609,AC008468,AC010223,AF152306,AF152475,AF169689,BC130447 NP_061724,NP_114066,NP_114065,AAC34317,AAD43700,AAD43736,AAF89329,AAI30448,Q9Y5I2 Hs.199343 GDB:10796527 CNR8|CNRN8|CNRS8|CRNR8|PCDH-ALPHA10 protein-coding 1349379 PCDHA11 protocadherin alpha 11 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15372022,11230163,10835267,10817752,10716726,10662547 56138 NM_018902,NM_031861,NG_000016,AC005609,AC008468,AC010223,CH471062,AF152307,AF152476,AJ007609 NP_061725,NP_114067,AAC34316,EAW61995,EAW62003,AAD43701,AAD43737,CAC22256,Q9Y5I1 Hs.199343 GDB:10795376 CNR7|CNRN7|CNRS7|CRNR7|PCDH-ALPHA11 protein-coding 1345752 PCDHA12 protocadherin alpha 12 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 16303743,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10380929,1380929 56137 NM_018903,NM_031864,NG_000016,AC005609,AC008468,AC010223,AF152308,AF152477,AK075556,AW134813,BC112280,BC113372 NP_061726,NP_114070,AAC34315,AAD43702,AAD43738,AAI12281,AAI13373,Q2M1N8,Q9UN75 Hs.199343,Hs.608548 GDB:10796529 MGC138485|MGC141932|PCDH-ALPHA12 protein-coding 1342552 PCDHA13 protocadherin alpha 13 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 15372022,11230163,10835267,10817752,10716726,10662547,10380929 56136 NM_018904,NM_031865,NG_000016,AC005609,AC008468,AC010223,CH471062,AB208924,AF152309,AF152478 NP_061727,NP_114071,AAC34314,EAW61986,EAW62008,BAD92161,AAD43703,AAD43739,Q59H35,Q9Y5I0 Hs.199343 GDB:10795374 CNR5|CNRN5|CNRS5|CRNR5|PCDH-ALPHA13 protein-coding 1350988 PCDHA14 protocadherin alpha 14 pseudogene 11230163,10835267,10817752,10716726,10662547,10380929 26307 NG_000016,AC005609,AY013875 GDB:10013827 CNR3|CNRN3|CNRS3|CRNR3|PCDH-PSI4 pseudo 1315965 PCDHA2 protocadherin alpha 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15489334,15372022,12665801,12477932,11230163,10835267,10817752,10716726,10662547 56146 NM_018905,NM_031496,NM_031495,NG_000016,AC005609,AC008468,AC010223,AF152310,AF152480,BC003126 NP_061728,NP_113684,NP_113683,AAC34324,AAD43704,AAD43741,AAH03126,Q9Y5H9 Hs.199343 GDB:10796531 PCDH-ALPHA2 protein-coding 732264 PCDHA3 protocadherin alpha 3 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15372022,12477932,11230163,10835267,10817752,10716726,10662547 56145 NM_018906,NM_031497,NG_000016,AC005609,AC008468,AC010223,AF152311,AF152481,BC069064,BC129807 NP_061729,NP_113685,AAC34323,AAD43705,AAD43742,AAH69064,AAI29808,Q6NTE3,Q9Y5H8 Hs.199343 GDB:10796533 MGC141669|PCDH-ALPHA3 protein-coding 733347 PCDHA4 protocadherin alpha 4 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,16169070,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10612399 56144 NM_018907,NM_031500,NG_000016,AC005609,AC008468,AC010223,AB208925,AF152312,AF152482,AW161561,BC112102,BC113609 NP_061730,NP_113688,AAC34322,BAD92162,AAD43706,AAD43743,AAI12103,AAI13610,Q2M253,Q59H34,Q9UN74 Hs.199343 GDB:10796535 CNR1|CNRN1|CRNR1|MGC138307|MGC142169|PCDH-ALPHA4 protein-coding 1347310 PCDHA5 protocadherin alpha 5 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15489334,15372022,12477932,11230163,10835267,10817752,10716726,10662547 56143 NM_018908,NM_031501,NG_000016,AC005609,AC008468,AC010223,AB208863,AF152313,AF152483,BC033735 NP_061731,NP_113689,AAC34321,BAD92100,AAD43707,AAD43744,AAH33735,Q59H96,Q9Y5H7 Hs.199343 GDB:10795375 CNR6|CNRN6|CNRS6|CRNR6|PCDH-ALPHA5 protein-coding 1344704 PCDHA6 protocadherin alpha 6 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15489334,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10612399 56142 NM_018909,NM_031849,NM_031848,NG_000016,AC005609,AC008468,AC010223,AB209205,AF152314,AF152484,AF169694,BC019862,BC036674,BC042887,BC043441 NP_061732,NP_114037,NP_114036,AAC34320,BAD92442,AAD43708,AAD43745,AAF89691,AAH36674,Q59GA4,Q9UN73 Hs.199343,Hs.570901,Hs.599714,Hs.621225 GDB:10013826 CNR2|CNRN2|CNRS2|CRNR2|PCDH-ALPHA6 protein-coding 1353324 PCDHA7 protocadherin alpha 7 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15372022,11230163,10835267,10817752,10716726,10662547 56141 NM_018910,NM_031852,NG_000016,AC005609,AC008468,AC010223,AF152315,AF152485 NP_061733,NP_114040,AAC34319,AAD43709,AAD43746,Q9UN72,AAI48657,AAI56821,AAI56894 Hs.199343 GDB:10795373 CNR4|CNRN4|CNRS4|CRNR4|PCDH-ALPHA7 protein-coding 1346741 PCDHA8 protocadherin alpha 8 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,15372022,11230163,10835267,10817752,10716726,10662547 56140 NM_018911,NM_031856,NG_000016,AC005609,AC008468,AC010223,AF152316,AF152486 NP_061734,NP_114062,AAC34318,AAD43710,AAD43747,Q9Y5H6 Hs.199343 GDB:10796537 PCDH-ALPHA8 protein-coding 1343466 PCDHA9 protocadherin alpha 9 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 15489334,15372022,12477932,11230163,10835267,10817752,10716726,10662547,10380929,9205841 9752 NM_031857,NM_014005,NG_000016,AC005609,AC008468,AC010223,AB002343,AF152317,AF152487,AJ007610,BC104802,BC104804 NP_114063,NP_054724,AAC34313,BAA20803,AAD43711,AAD43748,CAC22257,AAI04803,AAI04805,Q9Y5H5 Hs.199343 GDB:11499094 KIAA0345|PCDH-ALPHA9 protein-coding 1353159 PCDHA@ protocadherin alpha cluster 10662547,10380929 56117 GDB:10013824 1353050 PCDHAC1 protocadherin alpha subfamily C, 1 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,11230163,10835267,10817752,10716726,10662547 56135 NM_018898,NM_031882,NG_000016,AC004776,AC010223,AA601497,AF152303,AF152473,AJ007608,AW152471 NP_061721,NP_114088,AAD43697,AAD43734,CAC22255,Q9H158 Hs.199343 GDB:10796539 PCDH-ALPHA-C1 protein-coding 1346435 PCDHAC2 protocadherin alpha subfamily C, 2 This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. 1580863 10380929,14702039,12477932,11230163,10835267,10817752,10716726,10662547 56134 NM_018899,NM_031883,NG_000016,AC010223,AC010233,CH471062,AF152304,AF152474,AK123867,BC063288,BC104776,BC105111 NP_061722,NP_114089,EAW62000,EAW62005,AAD43698,AAD43735,AAH63288,AAI04777,AAI05112,Q2M3V1,Q6P4R2,Q9Y5I4 Hs.199343 GDB:10796541 MGC71598|PCDH-ALPHA-C2 protein-coding 1351100 PCDHACT protocadherin alpha constant 10380929,10662547 56119 GDB:10796543 1318719 PCDHB1 protocadherin beta 1 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 12477932,11322959,11230163,10835267,10817752,10716726,10380929 29930 NM_013340,NG_000017,AC010223,CH471062,AA448114,AF152488,BC112096,BC112098 NP_037472,EAW61985,AAD43749,AAI12097,AAI12099,Q2M257,Q9Y5F3 Hs.278950 GDB:10796547 MGC138301|MGC138303|PCDH-BETA1 protein-coding 1343718 PCDHB10 protocadherin beta 10 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,15340161,14702039,12975309,12477932,11230163,10835267,10817752,10716726,10380929,9110174,8619474 56126 NM_018930,NG_000017,AC005752,AF131761,AF152489,AF217748,AK056391,AY358720,BC031837 NP_061753,AAD20038,AAD43750,AAK51616,AAQ89082,AAH31837,O95883,Q9UN67 Hs.657953 GDB:10796549 PCDH-BETA10|PCHB10 protein-coding 1346313 PCDHB11 protocadherin beta 11 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,9182820,10380929,12231349,15489334,12477932,11230163,10835267,10817752,10716726 56125 AF152490,AF217747,BC112132,BC113611,D88795,NG_000017,AC005752,CH471062,AB209225,NM_018931 BAD92462,AAD43751,AAK51615,AAI12133,AAI13612,BAA21565,O15200,Q59G84,Q9Y5F2,NP_061754,EAW61972 Hs.283084 GDB:10796551 ME2|MGC138337|MGC142171|PCDH-BETA11 protein-coding 1350553 PCDHB12 protocadherin beta 12 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 10380929,15489334,12477932,11322959,11230163,10835267,10817752,10716726 56124 NM_018932,NG_000017,AC005752,CH471062,AF152491,AF217746,BC045637 NP_061755,EAW61971,AAD43752,AAK51614,AAH45637,Q9Y5F1 Hs.429820 GDB:10796553 PCDH-BETA12 protein-coding 1313625 PCDHB13 protocadherin beta 13 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,14702039,12975309,12477932,11230163,10835267,10817752,10716726,10380929 56123 NM_018933,NG_000017,AC005752,CH471062,AF152492,AF217745,AK021915,AK292821,AY358427,BC033068,BC051348,BC071934 NP_061756,EAW61970,AAD43753,AAK51613,BAB13935,BAF85510,AAQ88793,AAH33068,AAH51348,AAH71934,Q9HAB4,Q9Y5F0 Hs.283803 GDB:10796555 PCDH-BETA13 protein-coding 1322463 PCDHB14 protocadherin beta 14 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,12477932,11230163,10835267,10817752,10716726,10380929,9182820 56122 NM_018934,NG_000017,AC005752,CH471062,AF152493,AF217744,AI206913,AK074555,BC098144,BC099728 NP_061757,EAW61969,AAD43754,AAK51612,AAH98144,AAH99728,Q9Y5E9 Hs.658497 GDB:10796557 MGC120065|PCDH-BETA14 protein-coding 1321168 PCDHB15 protocadherin beta 15 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 10380929,15489334,12477932,11322959,11230163,10835267,10817752,10716726 56121 NM_018935,NG_000017,AC005752,CH471062,AF152494,AF217742,AI473490,BC038797 NP_061758,EAW61968,AAD43755,AAK51610,AAH38797,Q9Y5E8,ABM84241,ABM87629 Hs.130757 GDB:10796559 PCDH-BETA15 protein-coding 1343753 PCDHB16 protocadherin beta 16 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,12665801,12477932,11230163,10997877,10835267,10817752,10716726,10380929,9182820 57717 NM_020957,NG_000017,AC074130,AF282973,CH471062,AB046841,AF217757,AI926355,AY013878,BC036062,D88794 NP_066008,AAG10030,EAW61975,BAB13447,AAF81914,AAK21988,AAH36062,BAA21564,O15199,Q9NRJ7,ABW03744 Hs.147674 GDB:11502962 KIAA1621|ME1|PCDH-BETA16|PCDH3X|PCDHB8a protein-coding 1346282 PCDHB17 protocadherin beta 17 pseudogene 10380929,11322959,11230163,10835267,10817752,10716726,9182820 54661 NR_001280,NG_000017,AC005754,AF152527,AF217751,D88797 AAK51618,BAA21567,O15202,Q96T98 Hs.284307 GDB:11507386 ME4|PCDH-psi1 pseudo 1353169 PCDHB18 protocadherin beta 18 pseudogene 1580863 14702039,11322959,11230163,10835267,10817752,10716726,10380929 54660 NR_001281,NG_000017,AC005752,AF152528,AF217743,AK095496 AAK51611,Q96TA0 Hs.676071 GDB:11507388 PCDH-psi2 pseudo 1349085 PCDHB19P protocadherin beta 19 pseudogene 11322959,11230163,10716726,10380929 84054 NR_001282,NG_000017,AC005752,AY013876,AF329369 Hs.570898 GDB:11502954 PCDH-PSI5|PCDHB19 pseudo 1316874 PCDHB2 protocadherin beta 2 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,10380929,12231349,15489334,14702039,12477932,11230163,10835267,10817752,10716726 56133 NM_018936,NG_000017,AC005754,CH471062,AB209745,AF152495,AF217756,AK027526,BC098347,BC098575,BE502304,BF206341 NP_061759,EAW61983,BAD92982,AAD43756,AAK51623,AAH98347,AAH98575,Q4KMG6,Q59ER6,Q9Y5E7 Hs.533023 GDB:10796561 MGC111392|PCDH-BETA2 protein-coding 1313041 PCDHB3 protocadherin beta 3 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,10380929,12231349,12477932,11230163,10835267,10817752,10716726 56132 NM_018937,NG_000017,AC005754,CH471062,AF152496,AF217755,BC104817 NP_061760,EAW61981,AAD43757,AAK51622,AAI04818,Q2M3R2,Q9Y5E6 Hs.674730 GDB:10796563 PCDH-BETA3 protein-coding 1312238 PCDHB4 protocadherin beta 4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,10380929,12231349,15489334,12477932,11230163,10835267,10817752,10716726 56131 NM_018938,NG_000017,AC005754,CH471062,AF152497,AF217754,BC098139,BC098346 NP_061761,EAW61980,AAD43758,AAK51621,AAH98139,AAH98346,Q9Y5E5 Hs.591250 GDB:10796565 PCDH-BETA4 protein-coding 1314555 PCDHB5 protocadherin beta 5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,14702039,12477932,11230163,10835267,10817752,10716726,10380929,17353931 26167 NM_015669,NG_000017,AC005754,CH471062,AB209393,AF134474,AF152498,AF217753,AK023190,AL117449,BC001186 NP_056484,EAW61979,BAD92630,AAP97251,AAD43759,AAK51620,CAB55933,AAH01186,Q549F4,Q59FR6,Q9Y5E4,ABM82799,ABM85987 Hs.119693 GDB:10796567 DKFZp586B0217|PCDH-BETA5 protein-coding 1321102 PCDHB6 protocadherin beta 6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,10380929,12231349,11230163,10835267,10817752,10716726 56130 NM_018939,NG_000017,AC005754,CH471062,AF152499,AF217752 NP_061762,EAW61978,AAD43760,AAK51619,Q9Y5E3,AAI48407,AAI52976 Hs.283085 GDB:10796569 PCDH-BETA6 protein-coding 1314071 PCDHB7 protocadherin beta 7 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. 1580863 12477932,11322959,11230163,10835267,10817752,10716726,10380929,9373149,8125298 56129 NM_018940,NG_000017,AC005754,CH471062,AF152500,AF217750,AK024641,AK222560,AK222678,AL834254,BC098574,BC130331,BC130333 NP_061763,EAW61977,AAD43761,AAK51617,BAD96280,BAD96398,CAD38929,AAH98574,AAI30332,AAI30334,Q4KMG7,Q53HA3,Q53HM0,Q8NDD4,Q9Y5E2 Hs.203830 GDB:10796571 MGC111391|MGC163205|PCDH-BETA7 protein-coding 1349292 PCDHB8 protocadherin beta 8 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 16344560,11322959,11230163,10835267,10817752,10716726,10380929 56128 NM_019120,NG_000017,AC005754,AC074130,AF282973,CH471062,AF152501,AU119840 NP_061993,AAG10031,EAW61976,AAD43762,Q9UN66 Hs.287793 GDB:10796573 PCDH-BETA8|PCDH3I protein-coding 1345982 PCDHB9 protocadherin beta 9 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. 1580863 11322959,12231349,15489334,12477932,11230163,10835267,10817752,10716726,10380929 56127 NM_019119,NG_000017,AC005752,AC074130,AF282973,CH471062,AB208959,AF152502,AF217749,BC100672,BC103494,BC105636,BC105640 NP_061992,AAG10032,EAW61974,BAD92196,AAD43763,AAF81913,AAI00673,AAI03495,AAI05637,AAI05641,Q3ZB85,Q496X9,Q59H00,Q9Y5E1 Hs.662726 GDB:10796575 MGC119555|MGC119556|PCDH-BETA9|PCDH3H protein-coding 1351531 PCDHB@ protocadherin beta cluster 10380929 56116 GDB:10796545 1348571 PCDHG@ protocadherin gamma cluster 10380929 56115 GDB:11507390 1353144 PCDHGA1 protocadherin gamma subfamily A, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56114 NM_018912,NM_031993,NG_000012,AC005366,AC005618,AC008781,AF152318,AF152507,BC112082,BC112084 NP_061735,NP_114382,AAD43712,AAD43768,AAI12083,AAI12085,Q2M273,Q9Y5H4 Hs.368160 GDB:10796577 MGC138287|MGC138289|PCDH-GAMMA-A1 protein-coding 1317979 PCDHGA10 protocadherin gamma subfamily A, 10 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56106 NM_018913,NM_032090,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152319,AF152503,BC014509,BC093873,BC093875 NP_061736,NP_114479,EAW61935,EAW61965,AAD43713,AAD43764,AAH93873,AAH93875,Q52LL2,Q9Y5H3 Hs.368160 GDB:10796579 PCDH-GAMMA-A10 protein-coding 1349006 PCDHGA11 protocadherin gamma subfamily A, 11 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 15799819,11230163,10835267,10817752,10737800,10716726,10380929,7566098 56105 NM_018914,NM_032092,NM_032091,NG_000012,AC005366,AC005618,AC008781,CH471062,AA329824,AF152320,AF152504,AF152505,BE007760 NP_061737,NP_114481,NP_114480,EAW61934,EAW61937,AAD43714,AAD43765,AAD43766,Q9Y5H2 Hs.368160 GDB:10796581 PCDH-GAMMA-A11 protein-coding 1352537 PCDHGA12 protocadherin gamma subfamily A, 12 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12975309,11230163,10835267,10817752,10716726,9628581,10380929,9199196 26025 NM_003735,NM_032094,NG_000012,AC005366,AC005618,AC008781,CH471062,AB000897,AB011160,AF152321,AF152506,AL589367,AY358946 NP_003726,NP_115265,EAW61945,EAW61961,BAA21135,BAA25514,AAD43715,AAD43767,AAQ89305,O60330 Hs.368160 GDB:9956099 CDH21|FIB3|KIAA0588|PCDH-GAMMA-A12 protein-coding 1345135 PCDHGA2 protocadherin gamma subfamily A, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56113 NM_018915,NM_032009,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152322,AF152508,AL536793,BC093871,BC104950 NP_061738,NP_114398,EAW61941,EAW61954,AAD43716,AAD43769,AAH93871,AAI04951,Q52LL6,Q9Y5H1 Hs.368160 GDB:10796583 PCDH-GAMMA-A2 protein-coding 1349153 PCDHGA3 protocadherin gamma subfamily A, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56112 NM_018916,NM_032011,NG_000012,AC005366,AC005618,AC008781,CH471062,AB208927,AF152323,AF152509,AF152510,BC115408,BC115409,BC133708 NP_061739,NP_114400,EAW61936,EAW61940,BAD92164,AAD43717,AAD43770,AAI15409,AAI15410,AAI33709,Q59H32,Q9Y5H0 Hs.368160 GDB:10796585 PCDH-GAMMA-A3 protein-coding 1351804 PCDHGA4 protocadherin gamma subfamily A, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 11230163,10835267,10817752,10716726,10380929 56111 NM_018917,NM_032053,NG_000012,AC005366,AC005618,AC008781,AL832028,CH471062,AF152324,AF152511,AI805761 NP_061740,NP_114442,EAW61957,EAW61964,AAD43718,AAD43771,Q9Y5G9,AAI52813,AAI56731 Hs.368160 GDB:10796587 PCDH-GAMMA-A4 protein-coding 1323670 PCDHGA5 protocadherin gamma subfamily A, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929,9182820 56110 NM_018918,NM_032054,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152325,AF152512,BC104926,BC113460,D88796 NP_061741,NP_114443,EAW61938,EAW61947,AAD43719,AAD43772,AAI04927,AAI13461,BAA21566,O15201,Q2M3F5,Q9Y5G8 Hs.368160 GDB:10796589 CDH-GAMMA-A5|ME3|MGC142020|PCDH-GAMMA-A5 protein-coding 1343927 PCDHGA6 protocadherin gamma subfamily A, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56109 NM_018919,NM_032086,NG_000012,AC005366,AC005618,AC008781,CH471062,AB209178,AF152326,AF152513,BC109240,BC136702,BC136703,BC146651 NP_061742,NP_114475,EAW61929,EAW61931,BAD92415,AAD43720,AAD43773,AAI09241,AAI36703,AAI36704,AAI46652,Q59GD1,Q9Y5G7 Hs.368160 GDB:10796591 PCDH-GAMMA-A6 protein-coding 1312946 PCDHGA7 protocadherin gamma subfamily A, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 11230163,10835267,10817752,10737800,10716726,10380929 56108 NM_018920,NM_032087,NG_000012,AC005366,AC005618,AC008781,CH471062,AB208958,AF152327,AF152514,BC136747,BC136748,BF365422 NP_061743,NP_114476,EAW61943,EAW61963,BAD92195,AAD43721,AAD43774,AAI36748,AAI36749,Q59H01,Q9Y5G6 Hs.368160 GDB:10796593 PCDH-GAMMA-A7 protein-coding 1321718 PCDHGA8 protocadherin gamma subfamily A, 8 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 11230163,10835267,10817752,10716726,10380929,9205841 9708 NM_032088,NM_014004,NG_000012,AC005366,AC005618,AC008781,CH471062,AB002325,AF152328,AF152515,BC152415 NP_114477,NP_054723,EAW61932,EAW61942,BAA20785,AAD43722,AAD43775,AAI52416,Q9Y5G5 Hs.368160 GDB:9785594 KIAA0327|PCDH-GAMMA-A8 protein-coding 1345022 PCDHGA9 protocadherin gamma subfamily A, 9 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56107 NM_018921,NM_032089,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152329,AF152516,BC132769 NP_061744,NP_114478,EAW61958,EAW61960,AAD43723,AAD43776,AAI32770,Q9Y5G4 Hs.368160 GDB:10796595 PCDH-GAMMA-A9 protein-coding 1349950 PCDHGB1 protocadherin gamma subfamily B, 1 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56104 NM_018922,NM_032095,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152330,AF152517,BC103926,BC103927,BC103928 NP_061745,NP_115266,EAW61952,EAW61955,AAD43724,AAD43777,AAI03927,AAI03928,AAI03929,Q3SY74,Q3SY75,Q9Y5G3 Hs.368160 GDB:10796597 MGC119466|MGC119467|MGC119469|PCDH-GAMMA-B1 protein-coding 1346439 PCDHGB2 protocadherin gamma subfamily B, 2 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56103 NM_018923,NM_032096,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152331,AF152518,BC101805 NP_061746,NP_115267,EAW61939,EAW61950,AAD43725,AAD43778,AAI01806,Q3MIJ3,Q9Y5G2 Hs.368160 GDB:10796599 MGC126854|PCDH-GAMMA-B2 protein-coding 1343116 PCDHGB3 protocadherin gamma subfamily B, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 11230163,10835267,10817752,10716726,10380929 56102 NM_018924,NM_032097,NG_000012,AC005366,AC005618,AC008781,AF152332,AF152519,BC150172 NP_061747,NP_115268,AAD43726,AAD43779,AAI50173,Q9Y5G1 Hs.368160 GDB:10796601 PCDH-GAMMA-B3 protein-coding 1351676 PCDHGB4 protocadherin gamma subfamily B, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. 1580863 9199196,12477932,11230163,10835267,10817752,10716726,10380929 8641 NM_003736,NG_000012,AC005366,AC005618,AC008781,CH471062,AB000896,AF152333,AF152520,BC112088,BC113607,NM_032098 NP_003727,EAW61924,EAW61927,BAA21134,AAD43727,AAD43780,AAI12089,AAI13608,Q2M267,Q9UN71,NP_115269 Hs.368160 GDB:9956101 CDH20|FIB2|MGC138293|MGC142167|PCDH-GAMMA-B4 protein-coding 1316625 PCDHGB5 protocadherin gamma subfamily B, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56101 NM_018925,NM_032099,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152334,AF152521,BC093877,BC093879 NP_061748,NP_115270,EAW61922,EAW61948,AAD43728,AAD43781,AAH93877,AAH93879,Q52LK8,Q9Y5G0 Hs.368160 GDB:10796603 PCDH-GAMMA-B5 protein-coding 1347513 PCDHGB6 protocadherin gamma subfamily B, 6 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 11230163,10835267,10817752,10716726,10380929 56100 NM_018926,NM_032100,NG_000012,AC005366,AC005618,AC008781,CH471062,AF152335,AF152522 NP_061749,NP_115271,EAW61928,EAW61933,AAD43729,AAD43782,Q9H349,Q9Y5F9,AAI56638 Hs.368160 GDB:10796605 PCDH-GAMMA-B6 protein-coding 1344386 PCDHGB7 protocadherin gamma subfamily B, 7 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 15489334,12477932,11230163,10835267,10817752,10716726,10380929,9182820 56099 NM_018927,NM_032101,NG_000012,AC005366,AC005618,AC008781,CH471062,AA418589,AF152336,AF152523,AW057773,BC051788 NP_061750,NP_115272,EAW61923,EAW61944,AAD43730,AAD43783,AAH51788,O15203,Q9Y5F8 Hs.368160 GDB:10796607 ME6|PCDH-GAMMA-B7 protein-coding 1348107 PCDHGB8P protocadherin gamma subfamily B, 8 pseudogene 11230163,10835267,10817752,10716726,10380929 56120 NR_001297,NG_000012,AC005618,AF152529 Hs.672506 GDB:10796609 PCDH-PSI3 pseudo 1344510 PCDHGB9P protocadherin gamma subfamily B, 9 pseudogene 11230163,10716726,10380929 84055 NG_000012,AC005618,AY013877 GDB:11502959 PSI6 pseudo 1349055 PCDHGC3 protocadherin gamma subfamily C, 3 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 8508762,16751190,15489334,12477932,11230163,10835267,10817752,10716726,10380929,9865466,9360932,8719883 5098 BC063437,BG765565,L11371,L11373,NM_002588,NM_032403,NM_032402,NG_000012,AC005366,AC008781,AF052683,AF052684,AF052685,AF119570,CH471062,AF152337,AF152524,BC004321,BC006439,BC019299,BC026218,BC027451,BC027470 AAH63437,AAA36420,AAA75391,Q8TAJ2,Q9BR81,Q9BT64,Q9UKW1,Q9UN70,ABM84395,ABM87353,NP_002579,NP_115779,NP_115778,AAC08350,AAF03087,EAW61959,EAW61962,AAD43731,AAD43784,AAH04321,AAH06439,AAH19299,AAH26218,AAH27451,AAH27470 Hs.368160 GDB:207249 PC43|PCDH-GAMMA-C3|PCDH2 protein-coding 1346387 PCDHGC4 protocadherin gamma subfamily C, 4 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56098 NM_018928,NM_032406,NG_000012,AC005366,AC008781,CH471062,AF152338,AF152525,BC042650,BC101035,BC101036,BC101038 NP_061751,NP_115782,EAW61946,EAW61949,AAD43732,AAD43785,AAH42650,AAI01036,AAI01037,AAI01039,Q495T2,Q8IVQ1,Q9Y5F7 Hs.368160 GDB:10796611 MGC119489|MGC24978|PCDH-GAMMA-C4 protein-coding 1353179 PCDHGC5 protocadherin gamma subfamily C, 5 This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. 1580863 12477932,11230163,10835267,10817752,10716726,10380929 56097 NM_032407,NG_000012,AC005366,AC008781,CH471062,AF152339,AF152526,BC112081,BC112083,NM_018929 NP_115783,EAW61953,EAW61956,AAD43733,AAD43786,AAI12082,AAI12084,Q2M272,Q9Y5F6,NP_061752 Hs.368160 GDB:10796613 MGC138286|MGC138288|PCDH-GAMMA-C5 protein-coding 1349122 PCDHGCT protocadherin gamma constant 10380929 56118 GDB:10796615 1606685 PCDP1 primary ciliary dyskinesia protein 1 18039845,12477932,11181995 200373 NM_001029996,AC013275,AC069154,AC104817,CH471103,BC036530 NP_001025167,EAW95221,EAW95222,AAH36530,Q4G0U5 Hs.496753 MGC33657 protein-coding 1604812 PCF11 PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) 11060040,12226669,18086705,17606639,17081983,16344560,15489334,15302935,12477932,10048485 51585 NM_015885,AP000873,CH471076,AB020631,AF046935,AF086097,AK025103,BC065384,BC110432,BC146778,CR595078,CR601694,DB053362 NP_056969,EAW75083,EAW75084,BAA74847,AAC03107,AAH65384,AAI10433,AAI46779,O94913,Q0D2H7 Hs.128959 KIAA0824 protein-coding 1349943 PCGF1 polycomb group ring finger 1 737633,1580863 17088287,16943429,16189514,15620699,15489334,15315754,12477932,11287196 737633 84759 NM_032673,AC005041,CH471053,AF087884,AK125742,BC004952,BU602498,AL049296 NP_116062,EAW99632,EAW99633,AAP97183,AAH04952,Q9BSM1 Hs.316750 2010002K04Rik|FLJ43754|MGC10882|NSPC1|RNF3A-2|RNF68 protein-coding 1352511 PCGF2 polycomb group ring finger 2 The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. 8325509,17936708,17672918,17545584,17452456,17151361,17145810,16381901,16344560,15489336,15489334,12477932,12196719,12167701,11750047,11520462,11230166,11076863,12183370 7703 NM_007144,AC006449,CH471152,CS065980,AU123693,BC004858,BC024255,BX647429,CA421781,CR593412,CR603125,CR607079,CR608521,D13969 NP_009075,EAW60527,EAW60528,EAW60529,EAW60530,CAI84554,AAH04858,AAH24255,BAA03074,P35227,Q0JV13,CAL37647 Hs.371617 MEL-18|MGC10545|RNF110|ZNF144 protein-coding 1344033 PCGF3 polycomb group ring finger 3 The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. 16344560,15489334,14702039,12477932,9373149 10336 NM_006315,AC107464,AC139887,AL359562,CH471131,AA401257,AK057124,AK125801,AK225892,AL832536,AU132917,BC028026,BC050044,BC061897,BC107061,BI758022,BQ882065,BX640894,BX648409,CA454695,CR605671,CR607501,CX761238,CX761943 NP_006306,EAW82651,EAW82652,EAW82653,EAW82654,EAW82655,EAW82656,CAD38631,AAH28026,AAI07062,Q3KNV8,Q8N364,Q8NDP9 Hs.144309,Hs.707307 GDB:6278919 DKFZp686D20235|DONG1|FLJ36550|FLJ43813|MGC129615|MGC40413|RNF3|RNF3A protein-coding 1351153 PCGF5 polycomb group ring finger 5 737633 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863,8076819 737633 84333 Q86SE9 NM_032373,AC026227,CH471066,AK055625,AL832003,AL832496,BC007377,BC044910,BC051845,BI464238,CB266840,D16901 NP_115749,EAW50112,EAW50113,EAW50114,CAD89905,CAD91165,AAH07377,AAH51845,Q86SE9,CAL38502 Hs.500512 MGC16202|RNF159 protein-coding 1353848 PCGF6 polycomb group ring finger 6 The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. 8521824,18211895,17320162,16248985,15489334,15164054,14702039,12477932,12183370,12167161,11171983,16189514 84108 NM_032154,NM_001011663,AL591408,CH471066,AB047006,AK027885,AK290679,BC007602,BC010235,CR606650,CR625113 NP_115530,NP_001011663,EAW49647,EAW49648,EAW49649,EAW49650,EAW49651,EAW49652,BAB40779,BAB55431,BAF83368,AAH07602,AAH10235,Q9BYE7,ABZ92150,ABZ92535 Hs.335808 MBLR|MGC15678|MGC17541|RNF134 protein-coding 1350962 PCGF7P polycomb group ring finger 7 pseudogene 253272 NG_003076,AC073539 RNF134P1 pseudo 1601857 PCID2 PCI domain containing 2 17353931,17672918,16189514,15592455,15489334,15057823,14702039,12477932 55795 XM_001721407,XM_001721381,XM_001722771,AL136221,AL137002,CH471085,NM_018386,AF183426,AK000888,AK001185,AK001302,AK002167,AK023313,AK024478,AK098706,AK289462,AK309321,BC008975,BC016614,BC031246,CR596487,CR596556,CR600652,CR614396,CR614837,CR616322,CR619538,CR623501 NP_060856,XP_001721459,XP_001721433,XP_001722823,CAI13792,CAI13793,CAI13794,CAI41377,CAI41378,CAI41379,CAI41391,EAX09189,EAX09190,EAX09191,EAX09192,EAX09193,EAX09194,EAX09195,EAX09196,EAX09197,EAX09198,EAX09199,EAX09200,AAG09695,BAA91407,BAA91542,BAA91611,BAA92118,BAB14521,BAB15768,BAF82151,AAH08975,AAH16614,AAH31246,Q5JVF3,Q96H21 Hs.508769 DKFZp686C20226|F10|FLJ11305|FLJ99362|MGC16774|RP11-98F14.6 protein-coding 1321911 PCIF1 PDX1 C-terminal inhibiting factor 1 18294453,15489334,15121856,14702039,12565871,12477932,11780052 63935 NM_022104,AL162458,CH471077,AB050014,AK056553,AL137473,BC010005,BC013365,BQ020621,BQ684226,CR616229 NP_071387,CAC10456,EAW75778,EAW75779,EAW75780,BAC45238,CAB70757,AAH10005,AAH13365,Q54AB9,Q9H4Z3 Hs.472856 GDB:11505254 C20orf67 protein-coding 1347922 PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. 1580863,1601241,1601239,1601233 11851336,14764811,18460190,17495004,17440948,17192490,16978381,16620271,16344560,16341674,16282543,16144962,16132948,15951444,15489334,15046742,14744869,12477932,12324453,12237288,11997389,11780052,11689615,8547315,8490617,8432541,8325643,2993287,1657985,1492743 1601241,1601239,1601233 5105 AL035541,AY794987,CH471077,L12760,U31519,NM_002591,AI635748,AK290802,AW007566,BC023978,BJ993061,BM758256,BM768055,BX648510,DB187814,L05144 NP_002582,CAB55863,AAV50001,EAW75514,EAW75515,AAA02558,AAA91026,BAF83491,AAH23978,AAA60084,P35558,ABM84444,ABM87496 Hs.1872 GDB:125349 MGC22652|PEPCK-C|PEPCK1|PEPCKC 1643038,1643045,1643048,1643054,1643056,1643057,1643059,1643063,1643064,1643071,1643077,1643080,1643085,1643087,1643092,1643095,1643096,2289429,2289431 BW184_H,BW169_H,BW175_H,BW180_H,BW172_H,BW170_H,BW183_H,BW179_H,BW186_H,BW174_H,BW176_H,BW182_H,BW185_H,BW181_H,BW171_H,BW187_H,BW173_H,BW177_H,BW178_H protein-coding 1322394 PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) This gene encodes a member of the phosphoenolpyruvate carboxykinase (GTP) family. The protein is a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of GTP. A cytosolic form encoded by a different gene has also been characterized and is the key enzyme of gluconeogenesis in the liver. The encoded protein may serve a similar function, although it is constitutively expressed and not modulated by hormones such as glucagon and insulin that regulate the cytosolic form. Alternatively spliced transcript variants have been described. 1580863 8645161,17097062,16132948,15489334,15315819,12916001,12477932,9657976 5106 NM_001018073,AL136295,CH471078,Y11484,AK129934,BC001454,BU623248,BX248272,CR456913,CR602594,CR608041,CR609997,CR611857,CR613166,NM_004563,CR616177,CR618266,X92720 NP_004554,NP_001018083,EAW66115,CAA72272,AAH01454,CAD62600,CAG33194,CAA63380,Q16822,Q6IB91,Q86U01 Hs.75812 GDB:137198 PEPCK|PEPCK-M|PEPCK2 protein-coding 1351500 PCLD polycystic liver disease 5107 GDB:433949 69449 PCLO piccolo (presynaptic cytomatrix protein) Synaptic vesicles dock and fuse in the active zone of the plasma membrane at chemical synapses. The presynaptic cytoskeletal matrix (PCM), which is associated with the active zone and is situated between synaptic vesicles, is thought to be involved in maintaining the neurotransmitter release site in register with the postsynaptic reception apparatus. The cycling of synaptic vesicles is a multistep process involving a number of proteins (see MIM 603215). Among the components of the PCM that orchestrate these events are Bassoon (BSN; MIM 604020), RIM (RBBP8; MIM 604124), Oboe, and Piccolo (PCLO).[supplied by OMIM] 1580863 10508862,15489334,12853948,12690205,12477932,12175852,10707984,9847074,9628581,8900486,14734538 27445 NM_033026,NM_014510,AC004006,AC004082,AC004886,AC004903,AC080093,AC093461,CH236949,AB011131,AK125999,AI692861,BC001304,BC108289,BC122565,BC125271,BE538315,BG913494,BX649041,CR612833,CR749552,DN990884,DV080249,DV080679,Y19188 NP_149015,NP_055325,AAB97937,AAD21789,EAL24187,EAL24188,BAA25485,BAC86386,AAH01304,AAI08290,AAI22566,AAI25272,CAH18351,CAB60727,Q08E72,Q32P40,Q68D69,Q6ZU41,Q9Y6V0 Hs.12376 GDB:9993010 ACZ|DKFZp779G1236 presynaptic cytomatrix protein protein-coding 1349730 PCM1 pericentriolar material 1 1580863 15107855,8120099,17081983,16964243,16943179,16894060,16769584,16565220,16424865,12477932,12403812,11597177,11171385,10980597,10737800,16291865,16270321,16189514,16091753,16034466,15805263,15659651,15489334,15345747,15302935,15184884,15144186,14702039,14520415,9361024,7698772 5108 Q15154,Q9P1R8 BG898673,BI966701,BQ879089,BU166050,CB157569,CD704264,L27841,NM_006197,AC087273,AC087625,CH471080,AA931266,AF068293,AI810388,AI924817,AK091406,AL705025,AL712077,AW080255,AW237120,AW501568,BC000453,BC027477,BC065022,BC133052,BF994051 AAA60120,Q15154,Q9P1R8,NP_006188,EAW63796,EAW63797,EAW63798,AAF65182,BAC03656,AAH00453,AAH27477,AAH65022,AAI33053 Hs.491148,Hs.595514 GDB:386222 PTC4 protein-coding 733720 PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase Three classes of protein carboxyl methyltransferases, distinguished by their methyl-acceptor substrate specificity, have been found in prokaryotic and eukaryotic cells. The type II enzyme catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to the free carboxyl groups of D-aspartyl and L-isoaspartyl residues. These methyl-accepting residues result from the spontaneous deamidation, isomerization, and racemization of normal L-aspartyl and L-asparaginyl residues and represent sites of covalent damage to aging proteins PCMT1 (EC 2.1.1.77) is a protein repair enzyme that initiates the conversion of abnormal D-aspartyl and L-isoaspartyl residues to the normal L-aspartyl form.[supplied by OMIM] 729481,1580863 17353931,3355545,1339271,17167531,16256389,15489334,12943661,12477932,11912212,11847284,11792715,10496068,10343128,8914929,8074695,7592526,3167043,2684970,1998518,1478665 729481 5110 CR594435,CR597328,CR605853,CR607882,CR615194,CR615792,CR619144,D13892,D25545,D25546,D25547,M93008,M93009,NM_005389,AL355312,CH471051,S73902,S73903,S73905,U49740,AK098739,AK129778,BC007501,BC008748,BC018569,CR590587,CR591895 BAA02991,BAA05028,BAA05029,BAA05030,AAA90934,AAA90933,P22061,Q5VYC3,NP_005380,CAH72862,CAH72863,EAW47786,EAW47787,EAW47788,AAC60639,AAC60640,AAC60641,AAB38386,AAH07501,AAH08748 Hs.279257 GDB:132916 protein-coding 1602190 PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 15489334,14702039,12477932 115294 NM_052937,AC090186,AC103769,CH471068,AF293366,AK056952,AL833027,BC010693,BC017677,BC032670,BX640885,CR594752 NP_443169,EAW86710,EAW86711,EAW86712,EAW86713,AAG10068,BAB71324,CAH56272,AAH10693,AAH32670,CAE45939,Q658R8,Q96MG8,Q9HAZ8 Hs.308480 FLJ10883 protein-coding 1313858 PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 16344560,15489334,14702039,12477932,11780052,10470851 55251 NM_018257,NM_001104925,AL121581,AL137028,CH471077,AK001745,AK074436,AK126700,BC032332,BC033665,BC040945,BC045775,CA443672,CR603851,DB224815 NP_060727,NP_001098395,CAC17006,EAW75152,EAW75153,EAW75154,BAA91877,BAC86648,AAH32332,AAH33665,AAH40945,AAH45775,Q4G0M9,Q6PIM4,Q9NV79 Hs.473317 GDB:11504979 C20orf36|FLJ10883|KIAA0835|KIAA1050 chromosome 20 open reading frame 36 protein-coding 732094 PCNA proliferating cell nuclear antigen The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. 1580863,2292498 11005803,9305916,15225546,15358233,15504738,2565339,9111189,9822671,11473323,18316726,18284681,18256758,18184650,18072009,18032376,17982625,17932049,17880707,17720188,17564317,17525639,17507928,17274954,17203305,17167529,17164758,17115032,17108083,17106521,16934511,16888766,16888649,16888288,16861906,16861890,16710452,16609022,16584090,16552335,16551699,16510448,16508013,16438930,16407252,16407242,16227586,16226749,16216562,16216273,16204460,16201313,16195237,16124066,16101161,16000169,15967114,15805117,15777783,17063386,12766176,12633936,12632497,12532471,12522211,12515622,12479101,12477932,12452062,12452045,12439914,12403614,12393188,12390713,12382578,12368291,12354094,12237462,12226657,12220650,12171929,12125971,12088102,12081642,12063248,12045192,12015309,11994305,11986310,11968016,11929879,11896603,11877408,11864421,11805113,11784855,12786946,12782299,15681588,15647383,15638382,15638377,15635413,15616578,15595847,15572421,15543136,15536154,15489334,15359278,15342632,15221970,15161643,15149598,15107487,15033825,15000866,14871894,14871261,14729473,14669354,14657243,14642618,14612290,12964161,12947108,12937166,15772596,15754413,12930846,12893285,11741962,11724965,11682605,11601988,11595739,11593007,11585903,11578332,11559705,11554927,11430825,11411798,11376153,11313979,11310559,11274057,11268218,11254741,11239001,11092888,11077446,11022036,10978339,10930425,10871373,11780052,10828065,10559261,10463569,10455148,10408173,10393198,10219083,10051561,9927044,9751713,9667749,9570268,9566895,9563011,9552415,9545252,9465025,9396813,9302295,9228079,9092549,9087533,8999859,8995762,10648606,8876181,8861913,8858149,8673466,8103281,8101826,8093561,7973727,7949095,7908906,7821789,7673244,7673186,7478510,2882507,2882422,2569765,1979311,1975809,1477073,1313560,15050687,16189514,10888872,12853968,10973963,7784094,10858286,11302688,7780738,9178907,8861969,9705499,8647134,9632134,8662825,12124778,9546435,9467962 2292498 5111 NM_002592,NM_182649,AF527838,AL121924,AY310162,AY310163,AY310164,AY310165,CH471133,J04718,J05614,BC000491,BC062439,BG612192,BU626265,CB990423,CR536501,CR541799,CR617056,CR617091,CR619580,D28458,M15796 NP_002583,NP_872590,AAM78556,CAC27344,AAP58729,AAP58730,AAP58731,AAP58732,EAX10428,EAX10429,EAX10430,AAA60040,AAH00491,AAH62439,CAG38740,CAG46598,BAA05824,AAA35736,P12004,Q6FHF5,Q6FI35,Q7Z6A0,Q7Z6A1,Q7Z6A2,Q7Z6A3,ABM82329,ABM85507 Hs.147433 GDB:120261 MGC8367 protein-coding 1344067 PCNAP proliferating cell nuclear antigen pseudogene 2569765 5113 NG_000865,AL034410 GDB:120263 pseudo 1345270 PCNAP1 proliferating cell nuclear antigen pseudogene 1 8995762 359806 NG_002902,AP002026,D17326 GDB:1220115 p1PCNA pseudo 1348291 PCNAP2 proliferating cell nuclear antigen pseudogene 2 8995762 359805 NG_002901,AP002026,D17327 GDB:1220116 pF2PCNA pseudo 1603975 PCNP PEST proteolytic signal containing nuclear protein 12176013,14741369,15489334,12477932,9373149,8125298 57092 NM_020357,AC073861,CH471052,AB037675,AK025551,AK098760,AK222978,AL110143,BC013916,BC022001,BC107796,BX647886,CR592257,CR601783,CR610067,CR627371 CAH10470,Q53GF3,Q8WW12,ABM81725,ABM84879,NP_065090,EAW79790,EAW79791,EAW79792,EAW79793,EAW79794,BAB03501,BAD96698,AAH13916,AAH22001 Hs.545311,Hs.654949 DKFZp781I24156 protein-coding 1317411 PCNT pericentrin The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. 1580863 15337773,18174396,18157127,17884020,16565220,16251193,15342556,15094396,14702039,12906865,12477932,12221128,12168954,11171385,10830953,10823944,9455477,8812505,14767062,10753751 5116 AP000335,AP000336,AP000337,AP000471,AP001477,CH471079,AB007862,AF515282,AK024009,AK093923,AW452809,BC035913,NM_006031,BP311784,BP312870,CR626553,DC345793,U52962 NP_006022,EAX09277,EAX09278,EAX09279,EAX09280,EAX09281,BAA23698,AAP46636,BAB14772,BAC04252,AAH35913,AAD10838,O95613,Q8IWJ7,Q9H848 Hs.474069 GDB:555937 KEN|PCN|PCNT2|PCNTB|PCTN2|SCKL4 pericentrin (kendrin) protein-coding 1352404 PCNX pecanex homolog (Drosophila) 1580863 15777640,15489334,14702039,12508121,12477932,12168954,10231032,9872452,9244429 22990 NM_014982,AC004817,AC004825,AC005230,AL445903,CH471061,AB018348,AB023212,AF233450,AK027062,AK127570,AW137672,BC017076,BC033122,BC152474,CR625027 NP_055797,EAW81052,EAW81053,EAW81054,EAW81055,BAA34525,BAA76839,AAK82958,AAH17076,AAH33122,Q05BT4,Q96RV3,AAI66691 Hs.446559 FLJ23409|FLJ45663|KIAA0805|KIAA0995|PCNXL1 protein-coding 1343290 PCNXL1 pecanex-like 1 (Drosophila) 23690 GDB:10450502 1605048 PCNXL2 pecanex-like 2 (Drosophila) 14702039,12477932,12140758,9455477 80003 NM_014801,AL122003,AL133289,AL133291,AL133380,AL139342,AL359819,CH471098,AB007895,AK021445,AK055374,AK074078,AK090784,AK092353,AK097229,BC008300,BC014639,CT004972,DR731333 NP_055616,CAI22240,CAI22241,CAI18866,CAI18867,EAW69982,EAW69983,EAW69984,EAW69985,EAW69986,BAA23708,BAB13826,BAB84904,AAH08300,Q5T9Z9,Q5TD33,Q5TD34,Q96HP9 Hs.370605 GDB:10450503 FLJ11383|KIAA0435 protein-coding 1602160 PCNXL3 pecanex-like 3 (Drosophila) 15146197 399909 NM_032223,AP001362,AA426047,BE735110,BU616089,BX640978,CA489689,CN262095,CN281656,CR996285,DY654455 NP_115599,CAE45990,Q9H6A9 Hs.380801 GDB:11510180 FLJ22427 protein-coding 733466 PCOLCE procollagen C-endopeptidase enhancer Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. 1580863 7523404,17446170,16507574,15817489,15489334,12670942,12486138,12477932,12393877,12393284,12105202,10625689,9933570,9799793,8824813 5118 CR607368,CR609011,CR609482,CR610789,CR612431,CR613773,CR614060,CR618202,CR621387,CR621466,CR621506,CR622433,CR623834,CR623911,CR625397,L33799,NM_002593,AC099394,AF053356,AF083655,CH236956,CH471091,AB008549,BC000574,BC033205,BI837971,CR592494,CR592766,CR593107,CR593766,CR595433,CR596385,CR599129,CR603610,CR605587,CR605859,CR606654,CR606927 AAA61949,Q15113,ABM82849,ABM86034,NP_002584,AAC78800,AAD16041,EAL23825,EAW76515,BAA23281,AAH00574,AAH33205 Hs.202097 GDB:305468 PCPE|PCPE1 protein-coding 1346123 PCOLCE2 procollagen C-endopeptidase enhancer 2 1580863 16303743,15489334,15340161,12975309,12477932,12393877,12063410,11597177,10873381,9373149,8125298 26577 NM_013363,AC021074,CH471052,AF098269,AK075478,AK223633,AY035400,AY358557,BC006265,CR536570,CR601643,CR608532 NP_037495,EAW78961,EAW78962,AAF04621,BAD97353,AAK63128,AAQ88921,CAG38807,Q53EK6,Q9UKZ9,AAI52797 Hs.8944 GDB:10795696 PCPE2 protein-coding 1353951 PCOS1 polycystic ovary syndrome 1 5120 GDB:1391802 1602383 PCOTH prostate collagen triple helix 15930275,12477932 542767 NM_001014442,AL445985,AB113650,BC015452,BC073902,BC132842,BC132846,BC142999 NP_001014442,BAD93185,Q58A44,AAI40048 Hs.642624,Hs.707257 protein-coding 1314709 PCP2 Purkinje cell protein 2 737633 16298104,15489334,12477932,12399102,10196137 737633 126006 NM_174895,AC008763,AY091633,CH471139,AK130855,BC025387,BC038715,BX647746 NP_777555,AAN52488,EAW69019,AAH25387,AAH38715,Q8IUH7,Q8IVA1 Hs.591400 DKFZp686M0187|FLJ27345|GPSM4|L7|MGC41903 protein-coding 731616 PCP4 Purkinje cell protein 4 1580863 8914602,16780588,15489334,14551202,12477932,10830953,9697113,9345904,8931698 5121 AF064857,AL163281,CH471079,U53707,U53708,U53709,AF416716,AK289964,AM183336,BC013791,BQ287895,CR450319,U52969,X93349,NM_006198 AAC23994,CAB90443,EAX09622,EAX09623,EAX09624,EAX09625,AAC00024,AAL16810,BAF82653,CAJ70630,AAH13791,CAG29315,AAB09033,CAA63724,P48539,Q6ICS4,NP_006189 Hs.80296 GDB:6233541 PEP-19 protein-coding 1602138 PCP4L1 Purkinje cell protein 4 like 1 16710414,15489334,15146197,15053978,12477932 654790 NM_001102566,AL590714,AL592295,BC028905,BC067884,BC147004,CD237602,CN283207 NP_001096036,AAI47005,A6NKN8 Hs.433150 IQM1 protein-coding 734345 PCSK1 proprotein convertase subtilisin/kexin type 1 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a type I proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, prorenin, proenkephalin, prodynorphin, prosomatostatin and progastrin. Mutations in this gene are thought to cause obesity. This encoded protein is associated with carcinoid tumors. The use of alternate polyadenylation sites has been found for this gene. Multiple alternatively spliced transcript variants have been described for this gene but their full length nature is not known. 737721,1601274,1580863,1357926,1642015,1357925 9207799,8397508,18096669,17990211,17917309,17595246,16644867,16293189,15807527,15127203,15126519,14617756,14614908,14574455,12715715,12477932,12147787,12147786,12126783,11739459,11720250,11435430,11246872,10931181,10900462,10771309,10530621,10391209,10087454,9521468,9213372,8916141,8666140,8557106,7797529,3542996,3053705,2061332,1765368,1605851,1597471,1547893,8995623,8940009,8163529,7639757 737721,1601274,1357926,1642015,1357925 5122 NM_000439,AC008951,AC108107,CH471084,D73407,U24128,AB208874,BC031211,BC130295,M90753,X64810 NP_000430,EAW96062,EAW96063,BAA11133,AAA73788,BAD92111,AAI30296,AAA59918,CAA46031,P29120,Q59H85 Hs.78977 GDB:128033 NEC1|PC1|PC3|SPC3 2289249 BW90_H protein-coding 737617 PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor Members of the subtilisin-like proprotein convertase family process latent precursor proteins into their biologically active products. The protein encoded by this gene appears to function as an endogenous inhibitor of proprotein convertase subtilisin/kexin type 1. 69973,1580863,1642360,1642350,1642351,1642352 10632593,15489334,14746899,12914799,12477932,11719503,11435430 69973,1642360,1642350,1642351,1642352 27344 NM_013271,AF196971,CH471224,AF181562,BC002851,BC094731,CR605647 NP_037403,EAW50742,AAF22643,AAH02851,Q9UHG2,ABM84451 Hs.522640 GDB:11507392 PROSAAS|SAAS protein-coding 736345 PCSK2 proprotein convertase subtilisin/kexin type 2 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a proinsulin-processing enzyme that plays a key role in regulating insulin biosynthesis. It is also known to cleave proopiomelanocortin, proenkephalin, prodynorphin and proluteinizing-hormone-releasing hormone. The use of alternate polyadenylation sites has been found for this gene. 1581731,1580863,1357926 7913882,7626024,9020868,8034613,18096669,17618154,16293189,15585599,15489334,14614908,12477932,11780052,11720250,11439082,11246872,10931181,10900462,10530621,9881908,9467579,9359835,8661740,8557106,8276855,8244401,7983775,7722516,3053705,2154467,1765368,1594602,10965896 1581731,1357926 5126 AAB32656 NM_002594,AL031664,AL031675,AL121779,AL359511,CH471133,M95960,M95971,S75955,U73595,BC001905,BC005815,BC040546,J05252 NP_002585,CAB89428,CAI21690,EAX10279,EAX10280,EAX10281,AAA59919,AAD14202,AAC51862,AAH05815,AAH40546,AAA60032,AAB32656,P16519,Q5JYN7,Q76P55,Q8IWA8,Q9UM69,ABM83601,ABM86843 Hs.315186 GDB:128519 NEC2|PC2|SPC2 protein-coding 1345180 PCSK4 proprotein convertase subtilisin/kexin type 4 Proprotein convertases, including PCSK4, are calcium-dependent serine proteases related to bacterial subtilisins and to yeast kexin. These enzymes process precursor proteins to their active forms by selective cleavage of the polypeptide at sites following paired basic amino acids. In mammals, this family comprises PC1 (MIM 162150), PC2 (MIM 162151), PC4, PC5 (MIM 600488), furin (FUR; MIM 136950), and PACE4 (MIM 167405). Substrates for these enzymes range from prohormones to precursors for growth factors to cell surface receptors and viral surface glycoproteins (Cao et al., 2001 [PubMed 11776387]).[supplied by OMIM] 16040806,15489334,14702039,12975309,12477932,11776387,11193847,10900462,9660958,9482861,8889548,7819324,7782070 54760 NM_017573,AC027307,CH471139,AA453604,AK057235,AL043305,AL133566,AY358963,BC036354,BC142942,BU742489 NP_060043,EAW69494,CAB63719,AAQ89322,AAH36354,Q6UW60,ABM82242,ABM84279,ABM85426,ABM87671,ABW03607 Hs.46884 GDB:228974 DKFZp434B217|MGC34749|PC4|SPC5 protein-coding 732125 PCSK5 proprotein convertase subtilisin/kexin type 5 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein mediates posttranslational endoproteolytic processing for several integrin alpha subunits. It is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Two alternatively spliced transcripts are described for this gene but only one has its full length nature known. 1580863 8901832,12787574,16912035,11256614,8615794,18096669,18039650,17242158,16713569,16381901,16189514,15911696,15601911,15522936,15489336,14702039,12477932,11776387,11723118,11380615,11230166,11076863,10900462,10888676,10657249,9373149,9067430,8947550,8755541,8755538,8620001,8125298,7782070,11063880,9521771,8670066 5125 NM_006200,AL353607,AL359253,AL589653,CH471089,AK056202,AK225773,AL834522,BC012064,U49114,U56387 NP_006191,CAI41233,CAI41234,EAW62575,EAW62576,EAW62577,CAD39178,AAH12064,AAA91807,AAC50643,Q92824,Q96EP4,CAL38077,ABM83253,ABM86457 Hs.368542 GDB:228975 PC5|PC6|PC6A|SPC6 protein-coding 1604066 PCSK6 proprotein convertase subtilisin/kexin type 6 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease that can cleave precursor protein at their paired basic amino acid processing sites. Some of its substrates are - transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression. Alternatively spliced transcript variants encoding different isoforms have been identified. 1741956,11063880,9521771,8995442,8940009,8670066,12535616,8615794,8906861,8218226,12787574,9738469,10467177,17909005,17825503,17707572,16433634,15043778,14561729,12805404,12477932,12463163,11736660,11380615,10900462,10467164,10215603,10050053,10037747,9378725,9192737,8179631,7980617 5046 NM_138319,NM_002570,NM_138321,NM_138320,NM_138323,NM_138324,NM_138325,NM_138322,AB001914,AC023024,AC087528,CH471101,AB208955,AI478762,AM491522,AW137040,BC043562,BX428035,CR607190,CR611912,CR620446,D28513,D87994,D87995,M80482,D87993 NP_612192,NP_002561,NP_612194,NP_612193,NP_612196,NP_612197,NP_612198,NP_612195,BAA21620,BAA21621,BAA21622,BAA21623,BAA21625,BAA21626,BAA21624,BAA21627,EAX02301,EAX02302,EAX02303,EAX02304,EAX02305,EAX02306,EAX02307,EAX02308,EAX02309,EAX02310,EAX02311,BAD92192,CAM33226,BAA05871,BAA21791,BAA21792,BAA21793,AAA59998,P29122,Q59H04 Hs.498494,Hs.665989 PACE4|SPC4 protein-coding 733505 PCSK7 proprotein convertase subtilisin/kexin type 7 The protein encoded by this gene belongs to the subtilisin-like proprotein convertase family. The members of this family are proprotein convertases that process latent precursor proteins into their biologically active products. This encoded protein is a calcium-dependent serine endoprotease. It is structurally related to its family members, PACE and PACE4. This protein is concentrated in the trans-Golgi network, associated with the membranes, and is not secreted. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes. Multiple alternatively spliced transcripts are described for this gene but their full length nature is not yet known. Downstream of this gene's map location at 11q23-q24, nucleotides that match part of this gene's 3' end are duplicated and inverted. A translocation breakpoint associated with lymphoma occurs between this gene and its inverted counterpart. 1580863 12354117,12071862,11063880,10452538,9521771,8940009,9341152,17242158,14702039,12477932,12084516,11723118,11380615,11104692,11051545,10964928,10715106,10362256,10050053,9820811,9373149,9094426,8995623,8615762,8564950,8125298,8060327,7819324 9159 U40623,NM_004716,AF057710,AP000892,CH471065,AB231712,AK097207,AK222907,BC006357,BC010696,BT006870,CR611459,U33849 AAC50417,Q16549,Q53GM4,Q6PK65,Q96FK8,ABM92249,ABM84729,NP_004707,AAD55137,EAW67303,EAW67304,EAW67305,BAD96627,AAH06357,AAH10696,AAP35516,AAB03087 Hs.443752 GDB:9955137 LPC|PC7|PC8|SPC7 proprotein convertase subtilisin / kexin, type 7 protein-coding 731023 PCSK9 proprotein convertase subtilisin/kexin type 9 This gene encodes a proprotein convertase belonging to the proteinase K subfamily of the secretory subtilase family. The encoded protein is synthesized as a soluble zymogen that undergoes autocatalytic intramolecular processing in the endoplasmic reticulum. The protein may function as a proprotein convertase. This protein plays a role in cholesterol homeostasis and may have a role in the differentiation of cortical neurons. Mutations in this gene have been associated with a third form of autosomal dominant familial hypercholesterolemia (HCHOLA3). 1580998,1580999,1581000,1581001,1581002,1626106 17080197,17170371,12730697,12552133,16407292,16912035,17051583,14622975,18436227,18354102,18343176,18300938,18266662,18262190,18250299,18197702,18193043,18039658,18039650,18028451,18006936,17971861,17940607,17804797,17645871,17599443,17550346,17539906,17537735,17502100,17495605,17461796,17452316,17449864,17435765,17391637,17351764,17328821,17316651,17142622,17101087,17081983,16989838,16909389,16875509,16801348,16619215,16571601,16554528,16465619,16314752,16224054,16211558,16183066,16159606,17765244,17702855,15893176,15772090,15741654,15654334,15358785,15178557,15166014,15099351,14727179,14727156,14702039,12477932,10205269 1580998,1580999,1581000,1581001,1581002,1626106 255738 NM_174936,AC091609,AL589790,AX127530,AX207686,AY829011,CH471059,AK075365,AK122717,AK124635,BC042095,EF692496 NP_777596,CAC38896,CAC60361,AAV67948,EAX06660,BAC11572,BAC85910,ABV59216,Q8NBP7,AAI66619 Hs.18844 FH3|HCHOLA3|LDLCQ1|NARC-1|NARC1 protein-coding 734014 PCTK1 PCTAIRE protein kinase 1 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It may play a role in signal transduction cascades in terminally differentiated cells. This gene is thought to escape X inactivation. Two transcript variants encoding the same protein have been found for this gene. 16091426,1437147,17192257,17081983,16461345,15772651,15489334,14702039,12477932,12154078,12084709,10099831,9799109,9244435,9197417,8852665,8088790,7656587,1639063,9738006,16189514,14530271 5127 NM_033018,NM_006201,AL096791,AL513366,CH471164,AK096881,AK131486,AK290145,BC001048,BC006190,BC009852,BC015607,BG029956,BT006827,CR612039,CR620813,X66363,AB209465 NP_148978,NP_006192,CAD20055,EAW59294,EAW59295,EAW59296,EAW59297,EAW59298,BAD18631,BAF82834,AAH01048,AAH06190,AAH09852,AAH15607,AAP35473,CAA47006,Q00536,Q59FJ5,Q6ZMU4,Q96GA5,Q9BRL4,BAD92702 Hs.496068 GDB:283453 FLJ16665|PCTAIRE|PCTAIRE1|PCTGAIRE protein-coding 1343326 PCTK2 PCTAIRE protein kinase 2 The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to rat protein which is thought to play a role in terminally differentiated neurons. 1580863 1639063,17192257,15761153,15489334,15324660,12477932,11527406,10727952,9370357,16189514 5128 CB990077,X66360,CH471054,AF086067,BC033005,BF111798,NM_002595,AC125612 CAA47004,Q00537,ABM81734,ABM84889,EAW97566,EAW97567,EAW97568,EAW97569,AAH33005,NP_002586 Hs.506415,Hs.646416 GDB:285406 PCTAIRE2 protein-coding 1319906 PCTK3 PCTAIRE protein kinase 3 16091426,17192257,16766195,16710414,16344560,16189514,15489334,15019984,14702039,12477932,8088790,1639063,1437147 5129 Q07002,Q59G02,Q5VXQ3,Q5VXQ4,Q5VXQ5,Q6V3A2,Q6V3A3,Q8IWB3,Q9BWF9 BC040529,BM772779,BT007299,BU165355,CR601018,X66362,NM_002596,NM_212503,NM_212502,AL357131,CH471067,AB209307,AK126879,AL161977,AU130437,AY353237,AY353238,AY353239,AY353240,BC000281,BC009223,BC011526 Q6V3A3,Q8IWB3,Q9BWF9,ABM84466,ABM84675,AAH40529,AAP35963,CAA47005,Q07002,Q59G02,Q5VXQ3,Q5VXQ4,Q5VXQ5,Q6V3A2,NP_002587,NP_997668,NP_997667,CAH72009,CAH72010,CAH72011,CAH72012,EAW91559,EAW91560,EAW91561,EAW91562,BAD92544,AAR13065,AAR13066,AAH00281,AAH11526 Hs.445402 GDB:283455 PCTAIRE|PCTAIRE3 protein-coding 1353620 PCTP phosphatidylcholine transfer protein 1580863 10500206,10542325,17704541,17266964,15489334,12477932,12055623,11983415 58488 NM_001102402,NM_021213,AC009837,AC091155,AF114431,AF114432,AF114433,AF114434,AF114435,AF114436,CH471109,AF087857,AF114430,AF151638,AK024667,AK058120,BC005112,BC012084,BX648199,CR590755,CR605133,CR608698,CR608827,CR609651,CR615875,CR618541,CR625866 EAW94535,EAW94536,NP_001095872,NP_067036,AAF08347,EAW94533,EAW94534,AAP97167,AAF08345,AAF02536,AAH05112,AAH12084,Q549N3,Q9BSC9,Q9UKL6 Hs.285218 GDB:10450528 STARD2 protein-coding 1350972 PCYOX1 prenylcysteine oxidase 1 Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM] 1580863 9287348,16765319,16335952,15489334,12975309,12477932,12186880,10585463,10048485,9373149,8125298 51449 NM_016297,AC016700,AC079338,CH471053,AB020715,AF181490,AK225302,AY359063,BC007029,BC022259,BC033815,BC051891,CR592612,CR596400,CR623756,DC417137 NP_057381,AAX93194,AAX81995,EAW99819,BAA74931,AAF16937,AAQ89422,AAH07029,AAH33815,AAH51891,Q53ST0,Q584P1,Q5XKH6,Q9UHG3,ABM81727,ABM84882 Hs.591572 KIAA0908|PCL1 protein-coding 1604601 PCYOX1L prenylcysteine oxidase 1 like 15340161,12477932,16303743,15489334 78991 NM_024028,AC131025,CH471062,CS051219,AF451985,AK075414,AK090410,AK127281,AL834220,BC000014,BC004166,CR622771 NP_076933,EAW61783,EAW61784,EAW61785,CAI72105,AAP97684,BAC11604,BAC03391,CAD38901,AAH00014,AAH04166,Q8NBM8 Hs.706782 MGC3265 protein-coding 737380 PCYT1A phosphate cytidylyltransferase 1, choline, alpha 1580863 7918629,17184542,17081983,16964243,15069071,12477932,12052891,10480912,9224626,9166786,8810902,8155650,7726555,2833521,2155660,12502735 5130 BC046355,CR601695,L28957,NM_005017,AC069257,CH471191 AAH46355,AAA72127,P49585,Q86Y88,NP_005008,EAW53655,EAW53662 Hs.435767 GDB:433387 CT|CTPCT|PCYT1 protein-coding 1348765 PCYT1B phosphate cytidylyltransferase 1, choline, beta 1580863 9593753,15489334,15345747,14702039,12477932,11580270,10480912,10409428 9468 NM_004845,AC079168,CH471074,EU181262,AF052510,AF148464,AK022741,AK226121,BC045634,BG942820,CR618952 NP_004836,EAW99021,EAW99022,EAW99023,ABW03924,AAC39754,AAD35088,AAH45634,Q9Y5K3 Hs.660708 GDB:9956786 CCT-beta|CTB protein-coding 736348 PCYT2 phosphate cytidylyltransferase 2, ethanolamine 1580863 9083101,16189514,16023412,15489334,14702039,12477932,9370320 5833 NM_002861,XM_001714257,AC137723,CH471099,AK093328,AY251539,BC000351,BC010075,CR456779,CR591281,CR592207,CR596188,CR617224,CR624315,CR624509,CR624678,D84307 NP_002852,XP_001714309,EAW89705,AAH00351,AAH10075,CAG33060,BAA12311,Q6IBM3,Q99447 Hs.645248 GDB:6185975 ET protein-coding 733658 PDAP1 PDGFA associated protein 1 632905,1580863 8780057,15489334,15302935,12853948,12477932,11331882,9847074,8889548,16189514 632905 11333 BC071993,BE543808,BF037671,BI460344,BQ215882,CB852527,CR594369,CR606062,CR609056,CR609076,CR623070,CR623254,U41745,BC039130,NM_014891,AC004922,CH236956,CH471091,U65960,AA464753,BC000684,BC001578,BC007873 AAC50462,Q13442,NP_055706,AAF03506,EAW76674,EAW76675,EAW76676,AAB07135,AAH00684,AAH07873 Hs.632296 GDB:9958970 HASPP28|PAP|PAP1 protein-coding 1349017 PDB1 Paget disease of bone 1 5131 GDB:136349 1352563 PDB2 Paget disease of bone 2 9345096,9626621 8171 GDB:9864727 1350371 PDB4 Paget disease of bone 4 11473345 94003 GDB:11502366 1352364 PDB5 Paget disease of bone 5 140777 GDB:11507394 1345204 PDB6 Paget disease of bone 6 140778 GDB:11507396 737392 PDC phosducin This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 7961975,8288249,16710414,14758335,12500174,12477932,12107411,11331285,11287646,10884381,10866677,10753654,10708513,9843381,9701609,9551090,9020189,8288259,8188267,2394752,2383274,2210381 5132 NM_022576,AF172075,AL596220,AL663036,CH471067,M38058,M38059,M60720,AF076464,BC093839,BC112134,BQ636049,M33478,NM_002597 NP_002588,NP_072098,CAI13122,EAW91212,EAW91213,EAW91214,EAW91215,AAA36210,AAD43142,AAH93839,AAI12135,AAA35486,P20941,Q52LP8,Q9UP22,Q9UP23,Q9Y6H7,AAI48617,AAI53183 Hs.654381 GDB:125268 MEKA|PHD|PhLOP|PhLP protein-coding 1323231 PDCD1 programmed cell death 1 This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T cell function and contribute to the prevention of autoimmune diseases. 1580863 1396582,9332365,18448390,18337305,18322304,18294387,18250483,18203952,18174230,18171281,18096476,18069935,18056444,18042085,18041714,18037500,17999073,17968013,17942371,17885290,17868872,17721918,17641065,17610472,17603844,17570250,17567698,17535987,17490403,17468813,17344889,17311651,17272504,17228327,17203303,17136123,17130567,17064404,17024563,17002900,16956940,16954372,16917489,16493037,16471222,16278812,16265694,16227604,16171790,15959535,15934088,15912506,15883854,15818672,15352422,15334473,15322919,15188352,15022318,14730631,14617032,12893276,12719480,12517932,12477932,12402038,12095712,9141617,7851902 5133 NM_005018,AC131097,AF363458,CH471063,EF064716,L27440,U64864,AI928135,AY206416,AY238517,AY322430,BC074740,CR988122,U64863 NP_005009,AAN64003,EAW71298,ABK41899,AAC41700,AAC51774,AAO25116,AAO63583,AAP85379,AAH74740,AAC51773,Q15116,Q7Z5I0,Q86TL7,Q8IX89,Q9UMF3 Hs.158297 GDB:344167 CD279|PD1|SLEB2|hPD-1|hPD-l protein-coding 1351056 PDCD10 programmed cell death 10 This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. 17353931,17657516,17360971,17212813,16769843,16730941,16380626,16329096,16284570,16239636,16189514,15543491,15489334,12477932,9811928 11235 NM_145859,NM_145860,NM_007217,AC079822,CH471052,AF022385,AK291130,BC002506,BC016353,CR457107,CR597382,CR603036,CR604236,CR615626,CR616910 NP_665858,NP_665859,NP_009148,EAW78574,EAW78575,EAW78576,EAW78577,EAW78578,EAW78579,EAW78580,EAW78581,AAB72225,BAF83819,AAH02506,AAH16353,CAG33388,Q9BUL8,ABM83509,ABM86725 Hs.478150 GDB:9957495 CCM3|MGC1212|MGC24477|TFAR15 protein-coding 1354347 PDCD11 programmed cell death 11 1580863 14624448,17654514,17081983,15489334,12477932,12429849,10229231,8724849,15887232 22984 NM_014976,AL139339,AL591408,AL603983,CH471066,BC007698,BC023615,BC049838,BC064486,BC080560,BC111040,BM476302,CR602457,D80007 NP_055791,CAH71487,CAI15102,EAW49639,EAW49640,EAW49641,AAH49838,AAH64486,AAH80560,AAI11041,BAA11502,Q14690,Q2TA92,Q5W093,Q6P2J3 Hs.239499 ALG-4|KIAA0185|NFBP protein-coding 1314998 PDCD1LG2 programmed cell death 1 ligand 2 1580863 11283156,18322304,18203952,17597384,11224527,17343323,17311651,17203303,17136123,16598819,16278812,15837746,15489334,15340161,15253154,15164053,14724428,14702039,14515261,12893276,12538684,12477932 80380 NM_025239,AL162253,CH471071,AF329193,AF344424,AK001872,AY254343,AY271901,AY271902,BC074766,BC113678,BC113680,DQ336699,EF444806 NP_079515,CAI15984,EAW58762,AAK31105,AAK15370,AAP13471,AAP49000,AAP49001,AAH74766,AAI13679,AAI13681,ABC59616,ABO33153,Q2LC89,Q9BQ51 Hs.532279 B7DC|Btdc|CD273|MGC142238|MGC142240|PD-L2|PDCD1L2|PDL2|bA574F11.2 protein-coding 733734 PDCD2 programmed cell death 2 This gene encodes a nuclear protein expressed in a variety of tissues. The rat homolog, Rp8, is transiently expressed in immature thymocytes and is thought to be involved in programmed cell death. Expression of the human gene has been shown to be repressed by BCL6, a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on PDCD2. This gene is closely linked on chromosome 6 to the gene for TBP, the TATA binding protein. Two transcripts encoding different proteins have been identified. 15231747,7606924,17468402,16311922,15489334,14743216,14702039,11854457,14574404,12477932,12149646 5134 CH471051,AJ420535,AK055180,AY948416,AY948417,BC008378,BC067759,BG721244,CR608467,CR615387,S78085,NM_002598,NM_144781,AL031259 EAW47413,EAW47414,EAW47415,EAW47416,EAW47417,AAX51225,AAX51226,AAH08378,AAH67759,AAB34865,Q16342,Q58HM9,Q58HN0,Q6NW24,Q7Z6S7,ABM84401,ABM87344,NP_002589,NP_659005,CAA20285,CAD92541 Hs.367900 GDB:435096 MGC12347|RP8|ZMYND7 protein-coding 1601844 PDCD2L programmed cell death 2-like 16311922,15489334,12477932 84306 Q9BRP1 NM_032346,AC008747,AC092073,BC006146,CR592665,CR594354,CR603540,CR625074 NP_115722,AAH06146,Q9BRP1 Hs.515344 MGC13096 protein-coding 732159 PDCD4 programmed cell death 4 (neoplastic transformation inhibitor) This gene encodes a protein localized to the nucleus in proliferating cells. Expression of this gene is modulated by cytokines in natural killer and T cells. The gene product is thought to play a role in apoptosis but the specific role has not yet been determined. Two transcripts encoding different isoforms have been identified. 12054647,16357133,18296647,17991735,17849461,17828298,17297470,17081983,17053147,16964243,16682950,16449643,15592455,15489334,15317660,15164054,15153438,15144186,15082783,12898601,12477932,10640828,10632927,9759869,9373149,8543179,8125298,17353931,16189514 27250 NM_014456,AL136368,AL158163,CH471066,U83908,AK223623,AL049932,BC015036,BC026104,BC031049,BI910668,BX537500,BX641168,BX647834,CR617800,U96628,NM_145341 NP_663314,NP_055271,CAI40094,CAI40095,CAH72814,CAH72815,EAW49552,EAW49553,EAW49554,AAB42218,BAD97343,AAH15036,AAH26104,AAH31049,AAB67706,Q53EL6,Q5VZS7,ABM82571,ABM85760 Hs.232543 GDB:9992653 H731|MGC33046|MGC33047 protein-coding 1321536 PDCD5 programmed cell death 5 This gene encodes a protein expressed in tumor cells during apoptosis independent of the apoptosis-inducing stimuli. Prior to apoptosis induction, this gene product is distributed in both the nucleus and cytoplasm. Once apoptosis is induced, the level of this protein increases and by relocation from the cytoplasm, it accumulates in the nucleus. Although its exact function is not defined, this protein is thought to play an early and universal role in apoptosis. 1580863 9920759,17468978,17081983,16549820,16547588,16361542,16169070,16083422,15489334,15302935,15033527,12665801,12477932,11741587,8889548 9141 NM_004708,AC008474,AF014955,BC015519,BM696336,BT006694,CR456934,CR603482,CR604710,DQ208400 NP_004699,AAD11579,AAH15519,AAP35340,CAG33215,ABA60375,O14737,Q3HM38,ABM84503,ABM85537 Hs.443831 GDB:9955095 MGC9294|TFAR19 protein-coding 1322592 PDCD6 programmed cell death 6 This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. 1580863 8560270,17196169,17045351,16957052,16189514,16004603,15925322,15635413,15489334,15366927,14999017,14702039,12819013,12804766,12522145,12477932,12445461,12445460,12372597,12034747,11883939,11883899,11606059,11591653,11278427,11108958,10858458,10744743,9880530,9373149,8125298 10016 NM_013232,AC021087,AC118458,AF035606,AK001917,AK223366,BC012384,BC028242,BC050597,BC106706,BC110291,BI553617,BT020072,CR592133,CR599253,CR608684,U58773 NP_037364,AAC27697,BAD97086,AAH12384,AAH50597,AAI06707,AAI10292,AAV38875,AAF14336,O75340,Q2YDC2,Q53FC3,Q86W51,ABM82089,ABM85270 Hs.50823 GDB:9954886 ALG-2|MGC111017|MGC119050|MGC9123|PEF1B protein-coding 68505 PDCD6IP programmed cell death 6 interacting protein This gene encodes a protein thought to participate in programmed cell death. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization which may be partly responsible for the protection against cell death. 1580863 11883939,10200558,9880530,18292600,18032513,17853893,17673164,17601348,17556548,17428861,17389591,17353931,17350572,17277784,17250865,17166905,17158451,17082185,17081065,17014699,16764724,15914539,15849434,15557335,15489334,15456872,15231748,15195070,14999017,14739459,14702039,14678797,14583093,14519844,14505570,14505569,12927788,12860994,12771190,12588984,12477932,12360406,12034747,11683497,10718198,9647693,16470130,16234236,15509564,16189514 10015 AC112220,AC123901,CH471055,AB037796,AF151793,AF250394,AF349951,AK002122,BC020066,BC068454,BI562417,BQ895877,BT007367,NM_013374,BU165197 NP_037506,EAW64468,EAW64469,BAA92613,AAF08220,AAQ14260,AAK20398,BAA92092,AAH20066,AAH68454,AAP36031,Q4W4Y1,Q6NUS1,Q8WUM4 Hs.475896 GDB:9954885 AIP1|Alix|DRIP4|HP95|MGC17003 protein-coding 1319039 PDCD7 programmed cell death 7 This gene encodes a protein with sequence similarity to a mouse protein originally identified in embryonic stem cells. In mouse T-cell lines, this protein appears to be related to glucocorticoid- and staurine-induced apoptotic pathways, and to be linked to ceramide-mediated signalling. These observations suggest that this gene product is involved in specific apoptotic processes in T-cells. 1580863 15146077,10037816,8125298,15489334,15231748,14702039,12477932,9373149 10081 Q569I4,Q6IEG3,Q8N8D1 AC013553,CH471082,AF083930,AK096970,AK225816,BC016992,BC092464,BC131704,BK005196,BT007395,NM_005707 EAW77713,EAW77714,AAD20241,BAC04915,AAH16992,AAH92464,AAI31705,DAA05494,AAP36059,Q569I4,Q6IEG3,Q8N8D1,NP_005698 Hs.458596 GDB:9954977 ES18|HES18|MGC22015 protein-coding 735514 PDCL phosducin-like Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. 633731,1580863 10524200,11256614,17081983,16717095,16381901,15745879,15585822,15489336,15489334,12477932,12466282,11230166,11076863,10899582,10884381,10095058,8248177,16189514,15889144,12060742 633731 5082 NM_005388,AF083324,AF083325,AL359512,CH471090,U38236,AF031463,AK024980,AL117602,BC017227,BQ775109,BX369420,CR618226,CR618655,CR623512 NP_005379,AAC78848,AAC78849,CAI94958,CAI94959,EAW87546,AAA79724,AAD01930,CAB56011,AAH17227,Q0JT76,Q13371,Q4VXB5,Q4VXB6,Q9UNX1,Q9UNX2,CAL38288,ABM84005,ABM87338 Hs.271749,Hs.620774 GDB:3750193 DKFZp564M1863|PhLP protein-coding 1344096 PDCL2 phosducin-like 2 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. 15489334,12477932,12424248,11329013 132954 NM_152401,AC024243,CH471057,AW629089,BC034431,BG198696 NP_689614,EAX05469,AAH34431,Q8N4E4 Hs.223712 GCPHLP protein-coding 1320124 PDCL3 phosducin-like 3 This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. 1580863 15371430,16415341,15489334,12477932,12424248 79031 NM_024065,AC068538,CH471127,AF110511,AF267853,AI741007,BC001021,BG819099,BI820064 NP_076970,AAX93227,EAX01837,EAX01838,AAG21887,AAG44722,AAH01021,Q9H2J4 Hs.469459 HTPHLP|MGC3062|PHLP3|VIAF|VIAF1 protein-coding 1354070 PDCL3P1 phosducin-like 3 pseudogene 1 448836 1604948 PDDC1 Parkinson disease 7 domain containing 1 16344560,14702039,12477932 347862 NM_182612,AP006621,CH471158,AK091602,AK092816,AK128653,BC110868,BC112145,BU625376,DA025348 NP_872418,EAX02380,EAX02381,EAX02382,BAC03706,BAC03983,BAC87551,AAI10869,AAI12146,Q8NB37 Hs.218362 FLJ34283|FLJ35497|MGC131881|MGC138350 protein-coding 68649 PDE10A phosphodiesterase 10A Various cellular responses are regulated by the second messengers cAMP and cGMP. Phosphodiesterases, such as PDE10A, eliminate cAMP- and cGMP-mediated intracellular signaling by hydrolyzing the cyclic nucleotide to the corresponding nucleoside 5-prime monophosphate (Fujishige et al., 2000 [PubMed 10998054]).[supplied by OMIM] 1580863,1300048 10373451,16330539,15489334,14702039,14574404,12477932,11602184,11156964,10998054,10441464,10393245 10846 NM_006661,AB041798,AL117345,AL121789,AL136130,AL160160,CH471051,CS158635,AB020593,AB026816,AF127479,AF127480,AK021956,BC104858,BC104860,CR536567 NP_006652,BAB16383,BAB92963,Q9Y233,CAB92797,CAH72023,EAW47546,CAJ29925,BAA78034,BAA84467,AAD32595,AAD32596,AAI04859,AAI04861,CAG38804,Q6FHX1,Q9HCP9,Q9HCQ1,Q9ULW9 Hs.584856 GDB:9958407 FLJ11894|HSPDE10A protein-coding 737612 PDE11A phosphodiesterase 11A The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10725373,18043711,17178847,17008408,16767104,16330539,16079899,15995148,15815621,15800654,15800651,15538396,15489334,14702039,12477932,11502204,11121118,11050148,10906126,9847074,7935318,11156964 50940 NM_001077197,NM_016953,NM_001077196,NM_001077358,AB048423,AC011998,AC012499,AC073834,AC073892,AC083824,CH471058,AB036704,AB038041,AF281865,AI919276,AJ251509,AJ278682,AK074273,AK127194,BC112393,BC114431,BX105579,BX649056 NP_001070665,NP_058649,NP_001070664,NP_001070826,BAB62712,BAB62713,BAB62714,AAY14803,AAX93113,AAY24130,EAX11047,EAX11048,EAX11049,EAX11050,EAX11051,BAB16371,BAB16372,AAG32023,CAB82573,CAC15567,AAI12394,AAI14432,Q53S07,Q53S13,Q9HCR9 Hs.570273 GDB:10796617 FLJ23693|MGC133355|MGC133356|PPNAD2 protein-coding 1606683 PDE12 phosphodiesterase 12 15231837,14702039,12477932 201626 NM_177966,AC092418,CH471055,AB115695,AK001526,AK074423,AL831824,BC034978,BX647169 NP_808881,EAW65342,EAW65343,BAD20938,BAB85079,CAD38538,AAH34978,Q6L8Q7 Hs.572993 2'-PDE protein-coding 68458 PDE1A phosphodiesterase 1A, calmodulin-dependent 1580863,1300048 8557689,16514069,15489334,15272012,12477932,12135876,11991719,11747989,11369604,11342109,11329013,11156964,10405764,8889548 5136 P54750,Q53T15,Q53TB0,Q9H3Q8,Q9H3Q9,Q9UNL9,Q9Y246,Q9Y633,Q9Y634 AK130643,AL110263,BC022480,BC047057,BG196993,BM719913,CR617640,U40370,NM_005019,NM_001003683,AB038224,AC010888,AC011291,AC012500,AF110239,CH471058,AA846454,AB038227,AB038228,AF110235,AF110236,AF110237,AF110238,AJ401610 CAB53703,AAH22480,AAC50436,P54750,Q53T15,Q53TB0,Q9H3Q8,Q9H3Q9,Q9UNL9,Q9Y246,Q9Y633,Q9Y634,ABM83295,ABM84298,ABM86504,ABM87693,NP_005010,NP_001003683,BAB20049,BAB20050,BAB20051,BAB20052,BAB20053,BAB20054,BAB20055,BAB20056,BAB20057,AAY14837,AAY14812,AAD40741,EAX10965,EAX10966,EAX10967,EAX10968,EAX10969,EAX10970,EAX10971,EAX10972,EAX10973,EAX10974,EAX10975,BAB20037,BAB20038,AAD40737,AAD40738,AAD40739,AAD40740,CAC82208 Hs.191046,Hs.680373 GDB:1220231 HCAM1|HSPDE1A|MGC26303 protein-coding 735556 PDE1B phosphodiesterase 1B, calmodulin-dependent 1580863,1300048 9419816,8855339,16407168,15625104,15489334,15345747,12477932,11747989,11156964,9003415,1326532 5153 NM_000924,AC068789,AC079310,CH471054,U86077,AB209200,AJ401609,AK126899,BC032226,BX538092,M94539,U40584,U56976,U86078 ABM85785,NP_000915,EAW96788,EAW96789,EAW96790,EAW96791,AAC51871,BAD92437,CAC82207,AAH32226,CAD98011,AAA58405,AAB50018,AAC50769,AAC51872,O15307,Q01064,Q16713,Q59GA9,Q7Z364,Q96KP3,ABM82599 Hs.530871 GDB:120264 PDE1B1|PDES1B protein-coding 68463 PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 1580863 8557689,17726023,16455054,14702039,12853948,12477932,11834707,11369604,11156964 5137 AK056170,AK091734,AK094180,BC022479,BC022525,U40371,U40372,NM_005020,AC004931,AC006377,AC007033,CH471073 EAW93984,EAW93985,EAW93986,EAW93987,BAC03734,AAH22479,AAH22525,AAC50437,AAA96961,Q14123,Q75MP2,Q75MW3,Q8NB10,Q8TAE4,ABM84569,ABW03312,NP_005011,AAC29142,AAS07516 Hs.655694 GDB:373595 Hcam3 protein-coding 730957 PDE2A phosphodiesterase 2A, cGMP-stimulated 1580863,1300048 9210593,15650061,14702039,12477932,12271124,12038792,11156964,10375378 5138 NM_002599,AP003065,AP005019,CH471076,AK092278,AK095024,AK131525,AY495087,AY495088,BC040974,CR617254,CR624524,U67733 NP_002590,EAW74861,EAW74862,BAD18664,AAS75513,AAS75514,AAH40974,AAC51320,O00408,Q5J792,Q5J793,Q6ZMR1,Q8IW54 Hs.503163 GDB:9265375 PDE2A1|PED2A4 protein-coding 734436 PDE3A phosphodiesterase 3A, cGMP-inhibited 1580863,1300048 12038792,11156964,10679291,10421499,8695850,8155697,1315035,9173884,8921398,17392505,17332439,16964243,16873361,16172121,16153182,15489334,15041473,12773402,12477932,12466227,12154085 5139 NM_000921,AC112777,AC129029,AC129102,CH471094,AJ005036,BC117369,BC117371,BX646774,M91667,U36798 NP_000912,EAW96406,CAA06304,AAI17370,AAI17372,AAA35912,AAB18673,Q14432 Hs.591150 GDB:310621 CGI-PDE protein-coding 732966 PDE3B phosphodiesterase 3B, cGMP-inhibited 1580863 8884271,17884339,17255105,16702214,16476736,16395595,15147193,12765845,12453887,11839681,11641262,11640991,11156964,10952971,10454575,8921398,8706823,8626720,8163498 5140 AC018795,AC087207,AC090835,CH471064,D50640,U38178,X95522,AB209326,AY459346,BC136565,BC136566,BC150307,X95520,NM_000922 NP_000913,EAW68474,EAW68475,BAA09306,AAC50724,CAA64776,BAD92563,AAR24292,AAI36566,AAI36567,AAI50308,CAA64774,Q13370,Q14001,Q6SEI4,AAI46829,AAI50323 Hs.656437 GDB:642108 HcGIP1|cGIPDE1 protein-coding 737080 PDE4A phosphodiesterase 4A, cAMP-specific (phosphodiesterase E2 dunce homolog, Drosophila) 1580863,1300048 8413254,9677330,8940140,18095939,17576803,16940352,16856845,16300476,16257373,15738310,15489334,15047569,14759258,12810716,12764607,12477932,11994273,11852080,11839681,11566027,11306681,11156964,11114167,10393044,10206997,8009369,7888306,7772058,2160582 5141 NM_006202,NM_001111307,NM_001111308,NM_001111309,AC011461,AC011529,AF069491,AF178570,CH471106,L20967,AF073745,AW138155,AY266362,AY593872,AY618547,BC019864,BC038234,BE266386,BQ009232,CR604925,L20965,M37744,S75213,U18087,U18088,U68532,U97584 Q6PMT2,Q86V67,Q8IVA7,Q9H3H2,Q9HC30,Q9HC31,ABM83374,ABM86586,NP_006193,NP_001104777,NP_001104778,NP_001104779,AAC35012,AAC35013,AAC35014,AAC35015,AAG13805,AAG13806,EAW84104,EAW84105,EAW84106,EAW84107,EAW84108,EAW84109,AAA03590,AAD34217,AAP31234,AAT00628,AAU82096,AAH19864,AAH38234,AAA03588,AAA69697,AAB33798,AAC50458,AAA98540,AAC63832,AAC25679,P27815,Q08497,Q5DM53 Hs.89901 GDB:138776 DPDE2|PDE4|PDE46 protein-coding 733361 PDE4B phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. Cyclic nucleotides are important second messengers that regulate and mediate a number of cellular responses to extracellular signals, such as hormones, light, and neurotransmitters. The cyclic nucleotide phosphodiesterases (PDEs) regulate the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. This gene encodes a protein that specifically hydrolyzes cAMP. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863,1300048 16344560,16293762,15345747,15331441,15146197,14702039,14585965,12477932,12441002,11839681,11156964,11114167,9882697,8413254,8392015,8384210,8009369,7958996,7835077,9371714,18394866,18329668,17823207,17519386,17481393,17417055,17088426,16997058 5142 DA126733,EF595686,L12686,L20966,M97515,U85048,NM_001037341,NM_002600,NM_001037340,NM_001037339,AL109926,AL357273,AL359701,AL513493,AL590783,AL591487,AL592285,CH471059,AA206316,AA453531,AB209081,AK000989,AK127365,AK289969,AK290006,AK290206,AW519027,BC036108,BC046161,BC071607,BC101480,BC105040,CN268011,CR749667,DA103627 Q13945,Q5T3Z8,Q5VTH5,Q5VTH6,Q5VTH7,Q68CX5,Q6ZSK3,Q59GM8,ABQ85407,AAA35643,AAA03589,AAA36426,AAB96381,Q07343,NP_001032418,NP_002591,NP_001032417,NP_001032416,CAI21748,CAI21749,CAI21750,CAI21751,EAX06524,EAX06525,BAD92318,BAC86945,BAF82658,BAF82695,BAF82895,AAI01481,AAI05041,CAH18458 Hs.198072 GDB:138777 DKFZp686F2182|DPDE4|MGC126529|PDE4B5|PDEIVB protein-coding 737216 PDE4C phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) 1580863 9349724,15302935,15057824,14702039,14684825,12477932,11207431,11156964,10574328,9429761,8413254,8009369,7843419 5143 U88713,Z46632,NM_000923,NM_001098818,NM_001098819,AC005759,AC008397,AC068499,AF157816,CH471106,AK095384,AY429555,AY429556,AY429557,AY429558,BC109067,BC109068,L20968,U66346,U66347,U66348,U66349,U88712 AAC51916,O43849,O43850,O43851,O76104,O76105,P78505,Q08493,Q2VPB9,Q32MM7,Q7KYS4,Q7KYU8,Q9P1U3,Q9UPJ5,NP_000914,NP_001092288,NP_001092289,AAC83047,AAC83048,AAC83049,AAC83050,AAC83051,AAF67386,AAD47053,AAD47054,AAD47055,EAW84675,EAW84676,EAW84677,EAW84678,EAW84679,AAI09068,AAI09069,AAA03591,AAB96875,AAB96876,AAB96877,AAB96878,AAC51915 Hs.132584 GDB:132539 DPDE1|MGC126222 protein-coding 736102 PDE4D phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) The PDE4D gene is complex and has at least 9 different isoforms that encode functional proteins. These proteins degrade the second messenger cAMP, which is a key signal transduction molecule in multiple cell types, including vascular cells (Dominiczak and McBride, 2003 [PubMed 14517535]).[supplied by OMIM] 1581003,1581004,1581005,1581006,1581007,1580863,1300048 15861005,15802632,15752431,15731479,15611099,15489334,15131123,15003452,14668322,14609333,14517540,14517535,14500724,12842049,12834813,12552097,12477932,12399592,12387865,12193273,12121997,11839681,11833004,11516626,11296225,11156964,11134006,10828059,10329691,10022832,8797812,8663227,8413254,8125310,8009369,2554303,16189514,9371713,10913353,18420948,18398440,18158110,18157711,17956250,17884339,17673687,17667963,17655870,17594329,17288540,17135396,17088426,17081983,17065074,17016624,16973330,16964243,16914755,16835261,16825591,16689683,16675738,16642035,16543535,16373644,16322495,16166573,16162858,16130105,16030021,16020760,10571082 1581003,1581004,1581005,1581006,1581007 5144 NM_006203,AC008791,AC008804,AC008829,AC008833,AC012315,AC020924,AC027322,AC092343,AC117527,CH471123,AF012073,AF012074,AF536975,AF536976,AF536977,AF536980,AJ250852,NM_001104631,AJ250854,AJ250855,AY245866,AY245867,AY388960,BC008390,BC036319,BF197530,BT007398,CR595345,L20970,U02882,U50157,U50158,U50159,U79571 NP_001098101,NP_006194,EAW54982,EAW54983,EAW54984,EAW54985,EAW54986,EAW54987,EAW54988,EAW54989,EAW54990,EAW54991,EAW54992,AAC00069,AAC00070,AAN10117,AAN10118,AAN10119,CAC03756,CAC03757,CAC03758,AAP75760,AAP75761,AAQ90404,AAH08390,AAH36319,AAP36062,AAA03592,AAC13745,AAA97890,AAA97891,AAA97892,AAC51928,O43862,Q08499,Q9HCX6,Q9HCX8 Hs.117545 GDB:132541 DPDE3|HSPDE4D|PDE4DN2|STRK1 protein-coding 1352019 PDE4DIP phosphodiesterase 4D interacting protein (myomegalin) 1299425 15342556,17143517,16713569,16344560,14702039,12693553,12477932,11374908,11134006,9455484,16189514 1299425 9659 DA860918,DB187907,R42452,BU075360,BX647660,CB528730,CB529851,CD364321,CR612016,CR626673,CR749273,DA238288,NM_014644,NM_001002812,NM_001002811,NM_022359,NM_001002810,AL138791,AL138796,AL590452,AA707296,AB007923,AB007946,AB042555,AB042556,AB042557,AB042558,AF086451,AK000835,AK001619,AK021585,AK023588,AK024906,AK124487,AL080213,AL598372,AL831815,AL832024,AL832085,AL833273,BC004860,BC005949,BC025406,BC026270,BC078660,BC110294,BC132717,BC152439,BC152553,BE536412,BE677898,BG527781,BP286699 Q5TB27,Q5VU43,Q6P470,Q8TBR0,CAH18128,NP_055459,NP_001002812,NP_001002811,NP_071754,NP_001002810,CAI22526,CAH72521,CAH72522,CAH72523,CAH72524,CAH72525,CAH72526,CAH72527,CAH72528,BAA32299,BAA32322,BAB17759,BAB17760,BAB17761,BAB17762,CAD38529,CAD89923,CAD91152,AAH04860,AAH25406,AAH26270,AAH78660,AAI10295,AAI32718,AAI52440,AAI52554 Hs.584841,Hs.613082,Hs.654651,Hs.657490 GDB:9957901 CMYA2|DKFZp781J054|MGC75440|MMGL protein-coding 732674 PDE5A phosphodiesterase 5A, cGMP-specific This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. 1581008 18293931,17906676,17138653,17017938,16690614,16407275,16381901,15817798,15640438,15489336,15489334,15240816,15175637,15093609,14764637,14668322,12955149,12650945,12604588,12554648,12477932,12359732,11896473,11602184,11358813,11230166,11162575,11076863,10859452,10679255,10679249,10411650,10393044,9716380,9714779,9642111,9115850,8889548,2168396 1581008 8654 NM_033437,NM_033430,AB001635,AC080089,AC093752,AF155195,AF319172,CH471056,AB015656,AF043731,AF043732,AF155192,AF155194,AJ004865,AK290189,AY264918,AY266363,BC126233,BM920622,BM978332,CD511199,NM_001083 CAL37823,CAL37914,CAL38049,CAL38148,CAL38189,CAL38304,CAL38310,CAL38326,CAL38689,NP_001074,NP_246273,NP_236914,BAA33372,AAY40985,AAF40301,AAF40302,AAK08016,EAX05275,EAX05276,EAX05277,EAX05278,BAA81667,AAC63967,AAC63968,AAF40303,AAF40305,CAA06170,BAF82878,AAP21809,AAP31235,AAI26234,O76074,Q0JS25,Q0JT38,Q0JT54,Q0JT60,Q0JTH3,Q0JU97,Q0JUI8,Q0JV47,Q0JV95,Q4W5L4,Q9P0K3,Q9P0K4,Q9P0K6,CAL37565,CAL37613 Hs.587281,Hs.647971 GDB:9032947 CGB-PDE|CN5A|PDE5|PDE5A1 protein-coding 1315676 PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. 1580863 7493036,17110911,15001570,12477932,10393062,10373499,9770645,8889548,7698768,2169289,2155175,1672236,1326553 5145 NM_000440,AC008427,AF022380,CH471062,BC035909,BU734142,BX648986,M26061 NP_000431,AAC33831,EAW61756,EAW61757,AAH35909,AAB69155,O75316,P16499,Q0P638 Hs.567314 GDB:120265 CGPR-A|PDEA protein-coding 1322283 PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) Absorption of a photon by rhodopsin (MIM 180380) triggers visual signaling in rod photoreceptors. The phototransduction cascade leads to rapid hydrolysis of cGMP by activated cGMP phosphodiesterase (PDE), resulting in closure of cGMP-gated cation channels in the plasma membrane and hyperpolarization of the cell. Rod PDE is a peripheral membrane heterotrimeric enzyme made up of alpha (PDE6A; MIM 180071), beta (PDE6B), and gamma subunits (PDE6G; MIM 180073) (Khramtsov et al., 1993 [PubMed 8394243]).[supplied by OMIM] 1580863 8394174,18188951,17249578,15489334,12778443,12760810,12477932,11943774,10373499,9543643,8956055,8768262,8698075,8640555,8595886,8557257,8394243,8075643,7951329,7724547,4369896,1720239,1338685,1326553,1322354,1315306,1313787,6493 5158 NM_000283,AC107464,CH471131,X62692,X90587,BC000249,BC020343,BC039412,BT009794,S41458,X66142 NP_000274,EAW82661,EAW82662,CAA44569,CAA62215,AAH00249,AAP88796,AAB22690,CAA46932,P35913,Q53XN5,Q9UD49,ABM86693,ABW03811 Hs.59872,Hs.623810,Hs.654544 GDB:125915 CSNB3|PDEB|rd1 protein-coding 1320406 PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1580863 8641425,15164054,12477932,11394879,11329013,11076863,10393054,8543163,7490077 5146 NM_006204,AL157396,AL356214,CH471066,U20196,U20197,U20198,U20199,U20200,U20201,U20202,U20203,U20204,U20205,U20206,U20207,U20208,U20209,U20210,U20211,U20212,X94354,BG206143,BG220856,U31973 NP_006195,CAH73839,CAH72330,EAW50063,EAW50064,AAA92886,CAA64079,AAA96392,P51160,AAI11378 Hs.658121 GDB:596267 PDEA2 protein-coding 1314689 PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 1580863 11980706,9570951,16527812,16189514,16169070,15489334,12477932,11786539,10518933,10373499,9990021,9781033,9712853,9533031 5147 NM_002601,AC073476,AF042835,AF045999,CH471063,AF022912,AJ001626,BC001054,BC007831,BC017467,BT007278,CR456980,CR591859,CR598500,CR606131,CR609911 Q6PKG8,ABM84149,ABM87552,NP_002592,AAY24151,AAC25953,AAC39720,EAW70977,EAW70978,AAB87872,CAA04880,AAH01054,AAH07831,AAP35942,CAG33261,O43924,Q6IB24 Hs.516808 GDB:9430629 PDED protein-coding 735391 PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 1580863,1300048 7828894,16381901,15489336,15489334,14502124,12624098,12477932,12107411,11502744,11230166,11076863,8406511,8125719,2161380,2155175,1965799,1683837 5148 NM_002602,AC139530,CH471099,U00480,U00482,X62025,BC106884,BQ638010,BQ639341,BX537414,BX647779,EL954528,M36476 NP_002593,EAW89666,AAA03653,CAA43975,AAI06885,CAD97656,AAA60044,P18545,Q7Z3U8,CAL37980,CAL38593 Hs.654482 GDB:128660 DKFZp686C0587|MGC125749|PDEG protein-coding 1353241 PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 1580863 12372317,2162841,8786098,15629837,15489334,12477932 5149 NM_006205,AC020613,CH471094,BC069774,BC069800,BC093738,BC093740,D45399 NP_006196,EAW96343,AAH69774,AAH69800,AAH93738,AAH93740,BAA08241,Q13956 Hs.54471 GDB:596268 RCD3 protein-coding 68570 PDE7A phosphodiesterase 7A 1580863 8389765,15994308,12737631,12477932,12388353,12067300,11812656,11371644,11156964,10913353,10393044,9521885,9195912,8009369 5150 NM_002603,NM_002604,AC055822,AC100812,AJ457788,CH471068,AF332652,AK290801,AK292680,AY266364,BC058025,BC126360,U67932 NP_002594,NP_002595,CAD29836,EAW86883,EAW86884,EAW86885,EAW86886,AAK57640,BAF83490,BAF85369,AAP31236,AAI26361,AAB65772,A0AVH6,Q13946,Q7Z7I0,Q86V65,Q96T72 Hs.584788 GDB:203974 HCP1|PDE7 protein-coding 732248 PDE7B phosphodiesterase 7B Phosphodiesterases (PDEs) regulate intracellular levels of cAMP and cGMP, cyclic nucleotides that play important roles as second messengers in multiple physiologic processes. PDE7B belongs to the large superfamily of PDEs, which can be distinguished by their structure, tissue expression, localization, substrate specificity, regulation, and sensitivity to PDE inhibitors (Hetman et al., 2000 [PubMed 10618442]).[supplied by OMIM] 1580863,1300048 10618442,10814504,15489334,12477932,10872825 27115 NM_018945,AL133319,AL138828,AL360178,AL512290,CH471051,AB038040,AB209990,AF086025,AJ251860,AK290582,BC070267,BC075082,BC075083,EF108327 NP_061818,CAH73332,CAI95286,CAI95287,EAW47956,EAW47957,BAA96537,BAE06072,CAB92441,BAF83271,AAH70267,AAH75082,AAH75083,ABL14249,Q4LE81,Q5VWY9,Q6NSC8,Q9NP56,ABZ92522 Hs.652367 GDB:10795919 MGC88256|bA472E5.1 protein-coding 1601777 PDE8A phosphodiesterase 8A Phosphodiesterases (PDEs) regulate the intracellular levels of cAMP and cGMP. These cyclic nucleotides play an important role as second messengers in multiple physiologic processes, including regulation of vascular resistance, cardiac output, visceral motility, immune response, inflammation, neuroplasticity, vision, and reproduction. PDEs comprise a large superfamily of enzymes divided into 10 families. Different PDEs can be distinguished by their structure, tissue expression, localization, substrate specificity, regulation, and sensitivity to PDE inhibitors. Diversity in structure and specificity of function make PDEs promising targets for the pharmacotherapy of diseases modulated by cyclic nucleotide signaling (Hetman et al., MIM 2000). See MIM 171885.[supplied by OMIM] 9618252,15596729,15489334,14702039,12681444,12477932,12045112,11738832,11371644,11156964 5151 BC075822,NM_002605,NM_173454,AC027078,AC087468,AF388188,CH471101,AF056490,AF332653,AF388183,AF388184,AF388185,AF388186,AF388187,AK074280,AK122689,AK127232,AL109687,AL109778,AL109789,BC013825,BC017164,BC036190,BC037260,BC048317,BC060762 AAH60762,AAH75822,O60658,Q6P9H3,Q86XV4,Q96T71,Q9UMB5,NP_002596,NP_775656,EAX01965,EAX01966,EAX01967,EAX01968,EAX01969,EAX01970,AAC39763,AAK57641,AAL18610,AAL18611,AAL18612,AAL18613,AAL18614,CAB52020,CAB52432,CAB52453,AAH48317 Hs.9333 GDB:9848775 FLJ16150|HsT19550 protein-coding 1348334 PDE8B phosphodiesterase 8B Cyclic nucleotide phosphodiesterases (PDEs) catalyze hydrolysis of the 5-prime,3-prime-cyclic nucleotides cAMP and cGMP to the corresponding nucleoside 5-prime-monophosphates. Mammalian PDEs have been grouped into several families based on substrate affinities, inhibitor sensitivities, mode of regulation, and amino acid sequence homologies. The PDE8 family contains high-affinity cAMP-specific, IBMX (3-isobutyl-1-methyl-xanthine)-insensitive PDEs, such as PDE8B. All PDEs share a conserved C-terminal catalytic region and a variable N-terminal domain that presumably accounts for the distinctive regulatory properties unique to the individual families.[supplied by OMIM] 1580863 9784418,15489334,15144186,14702039,12895443,12681444,12477932,12372422,11502813,10737800 8622 NM_003719,NM_001029852,NM_001029854,NM_001029851,NM_001029853,AC010234,AC022414,AC022422,AY129950,CH471084,AB085824,AB085825,AB085826,AB085827,AF079529,AK002074,AK023913,AL831924,AY129948,AY129949,AY423729,BC035144,BC043209,BC047627,BE169437,BF109581,BI005015,BI677296,BU071384 NP_003710,NP_001025023,NP_001025025,NP_001025022,NP_001025024,AAN71725,AAN71726,AAN71727,EAW95798,EAW95799,EAW95800,EAW95801,EAW95802,EAW95803,EAW95804,BAC53762,BAC53763,BAC53764,BAC53765,AAC69564,CAD38584,AAN71723,AAN71724,AAS00492,AAH35144,AAH47627,O95263,Q3ZCR2,Q3ZCW6,Q5J7V7,AAI56216,AAI56988 Hs.584830 GDB:9956040 FLJ11212|PPNAD3 protein-coding 733534 PDE9A phosphodiesterase 9A The protein encoded by this gene catalyzes the hydrolysis of cAMP and cGMP to their corresponding monophosphates. The encoded protein plays a role in signal transduction by regulating the intracellular concentration of these cyclic nucleotides. Multiple transcript variants encoding several different isoforms have been found for this gene. 1580863 9856478,16780588,17090334,17008408,16189514,15489334,15210993,14702039,14527714,12565835,12477932,10830953,9624146 5152 NM_002606,NM_001001567,NM_001001583,NM_001001574,NM_001001579,NM_001001582,NM_001001570,NM_001001585,NM_001001571,NM_001001578,NM_001001577,NM_001001584,NM_001001581,NM_001001568,NM_001001569,NM_001001576,NM_001001573,NM_001001572,NM_001001575,NM_001001580,AB017602,AP001626,AP001627,AP001628,AP001747,CH471079,AF048837,AF067223,AF067224,AF067225,AF067226,AI492065,AK001165,AK001307,AK127770,AY196299,AY196300,AY196301,AY196302,AY196303,AY196304,AY196305,AY196306,AY196307,AY196308,AY196309,AY196310,AY196311,AY196312,AY196313,AY196314,AY242121,AY701187,BC009047,BT007016,CR599741,CR610522 NP_002597,NP_001001567,NP_001001583,NP_001001574,NP_001001579,NP_001001582,NP_001001570,NP_001001585,NP_001001571,NP_001001578,NP_001001577,NP_001001584,NP_001001581,NP_001001568,NP_001001569,NP_001001576,NP_001001573,NP_001001572,NP_001001575,NP_001001580,BAA88847,BAA95552,EAX09531,EAX09532,EAX09533,EAX09534,EAX09535,EAX09536,EAX09537,EAX09538,EAX09539,EAX09540,EAX09541,EAX09542,EAX09543,EAX09544,EAX09545,EAX09546,EAX09547,EAX09548,EAX09549,AAC39778,AAC26723,AAC26724,AAC26725,AAC26726,AAO34685,AAO34686,AAO34687,AAO34688,AAO34689,AAO34690,AAO34691,AAO34692,AAO34693,AAO34694,AAO34695,AAO34696,AAO34697,AAO34698,AAO34699,AAO34700,AAO88210,AAV84271,AAH09047,AAP35662,O76083,Q53Y40,Q5QD39 Hs.473927 GDB:9848776 HSPDE9A2 protein-coding 1605961 PDF peptide deformylase (mitochondrial) 11060042,15489958,15489334,14637138,14532271,12924944,12477932,12417987 64146 NM_022341,AC026464,CH471092,AF239156,AF322879,BC019912,CR624787 NP_071736,EAW83265,EAW83268,AAG33968,AAK15624,AAH19912,Q9HBH1 Hs.693727 protein-coding 736070 PDGFA platelet-derived growth factor alpha polypeptide The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor beta polypeptide, where the dimers are connected by disulfide bonds. Studies using knockout mice have shown cellular defects in oligodendrocytes, alveolar smooth muscle cells, and Leydig cells in the testis; knockout mice die either as embryos or shortly after birth. Two splice variants have been identified for this gene. 1580847,1580863,2289672,2292153,2292158,2292203,2292156,2292161,2292155,2292163 12850832,12670890,12670444,12645527,12615918,12576295,12477932,12411321,11994382,11678848,10681572,10598812,10358027,9837894,9692901,8780057,8486521,3666150,3614364,3614363,3422746,2832727,2544881,2315311,291037,2538439,2836953,7073684,2439522,2536956,3754619,10508235,2842868,9409235,10806482,17470632,287022,18284546,18174235,18084257,17984069,17958740,17944929,17933214,17852407,17578349,16850112,16760468,16462734,16344560,15890262,15829977,15631865,14997209,14708943,14705808,14633628,14573617,12972619,1997274,1848007,1612586,1512241,1505216,1360804,1317862,1311092,1281549,612586 1580847,2289672,2292153,2292158,2292203,2292156,2292161,2292155,2292163 5154 NM_002607,A37535,A37560,A41773,AC147651,AF085245,AJ238420,CH236966,CH471144,CQ858324,CS172381,CS172825,M19984,M19985,M19986,NM_033023,M19988,M19989,M20488,M20489,M20490,M20491,M20492,M20493,M20494,M21571,M59423,M83575,S50869,S51624,S62078,AK292217,AU118732,BC109246,BE336646,BQ001096,BQ002008,X03795,X06374,A09204,M19987 NP_148983,NP_002598,CAA02288,CAA02293,CAA02624,CAB59509,EAW87160,EAW87161,EAW87162,CAH23423,CAJ32894,CAJ32906,AAA60046,AAA60047,AAI46595,AAI41594,AAA60045,AAN76486,AAD13863,AAD13864,AAK29998,AAB26566,BAF84906,AAI09247,CAA27421,CAA29677,P04085,Q32M96,Q9BQF3,Q9UGN0,CAA00830 Hs.535898 GDB:120266 PDGF-A|PDGF1 protein-coding 737124 PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer (PDGF-BB) or as a heterodimer with the platelet-derived growth factor alpha polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 7, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two splice variants have been identified for this gene. 1580847,1580850,1580863,2292179,2292153,2292173,2292200,2292211,2292203,2292195 291037,2538439,2836953,7073684,1661670,17981115,2439522,2536956,9685360,9409235,287022,18310286,18300076,18239136,18069662,17998143,17958740,17950782,17944929,17724602,17671690,17626901,17608589,17545544,17518657,17431412,17395886,17341683,17338425,17292826,17229887,17227125,17157157,16893901,16847823,16843106,16777970,16709185,16641085,16596190,16477226,16227675,16149045,16081426,16007151,15956925,15919668,15915457,15826941,15695519,15522237,15496150,15489334,15461802,15081117,14997209,14760763,14705808,14702039,14643521,14595114,12960151,12850832,12850807,12660034,12615918,12576295,12477932,12411321,12176024,12127408,12034531,12023768,11994382,11903042,11854294,11811779,11498506,11331882,10681572,10591208,10485711,10446987,10409733,9692901,9334164,9057949,8988177,8780057,7896901,7659502,6844921,6740330,6336312,6329745,6327048,6318322,6306471,6297002,6091919,4033772,3969118,3517869,3472769,3456904,3275870,3023958,2991848,2845420,2544881,2212004,1906887,1396586,1317862,16189514,15897913,8697155,8174076 1580847,1580850,2292179,2292153,2292173,2292200,2292211,2292203,2292195 5155 NM_033016,A37537,A37562,CH471095,CQ858326,CS172383,X98706,Z81010,AK022920,BC029822,BC077725,CR456538,CR541807,CR601724,M12783,M32009,X02744,X02811,X03702,X83705,CS172827,K01401,K01913,K01914,K01915,K01916,K01917,M19719,X00560,X00561,X00562,NM_002608 NP_002599,NP_148937,CAA02289,CAA02294,EAW60305,EAW60306,EAW60307,EAW60308,CAH23424,CAJ32895,CAA67262,CAB02635,AAH29822,AAH77725,CAG30424,CAG46606,AAA60553,CAA26524,CAA26579,CAA27333,CAA58679,CAJ32907,AAA60552,AAA98793,AAA60349,CAA25227,CAA25228,CAA25229,CAA25230,P01127,P78450,Q15354,Q6FHE7,Q9UE56,Q9UE57,CAK54569,CAK54868 Hs.1976 GDB:120709 FLJ12858|PDGF2|SIS|SSV|c-sis protein-coding 68605 PDGFC platelet derived growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. 10858496,17482170,16443219,15911618,15728360,15389578,15061151,12975309,12707385,12598536,12477932,12176024,12032822,11342471,11313995,11297552,11004490,10806482 56034 NM_016205,AC092608,AC093325,CH471056,CQ858328,CS019501,CS070836,AB033831,AF091434,AF244813,AF260738,AY358493,BC041783,BC051876,BC094746 NP_057289,AAY40906,EAX04874,EAX04875,CAH23469,CAI58839,CAI93202,BAB03266,AAF00049,AAF80597,AAK51637,AAQ88857,Q4W5M9,Q9NRA1,Q9UL22 Hs.570855 GDB:10796821 FALLOTEIN|SCDGF protein-coding 1604286 PDGFD platelet derived growth factor D The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. 18258854,18187181,18056465,16189269,15988036,15611105,15489334,15271796,14514732,12975309,12477932,12427128,12107412,11980634,11342471,11331882,11331881,11162582 80310 NM_025208,NM_033135,AP003043,AP003502,AP004551,CH471065,CQ858309,AB033832,AF113216,AF336376,AI962915,AK292801,AY027517,AY027518,AY359116,BC030645,BG722948,AF335584 NP_079484,NP_149126,EAW67045,EAW67046,CAH23468,BAB18903,AAK38840,AAK56136,BAF85490,AAK20081,AAK20082,AAQ89474,AAH30645,Q9GZP0,AAG39287 Hs.352298 IEGF|MGC26867|MSTP036|SCDGF-B protein-coding 730916 PDGFRA platelet-derived growth factor receptor, alpha polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies in knockout mice, where homozygosity is lethal, indicate that the alpha form of the platelet-derived growth factor receptor is particularly important for kidney development since mice heterozygous for the receptor exhibit defective kidney phenotypes. 1580848,1580849,1580863,2292154,2292178,2292163,2292156,2292165,1580851,2292157,2292177,2292199,2292203 2536956,10806482,2542288,10508235,17470632,18464291,18416137,18360281,18314611,18288404,18284546,18265649,18187489,18084259,18077793,18070887,18042065,17881156,17827398,17762857,17701174,17690840,17673922,15928335,15897742,15894928,15871904,15862965,15791568,15685537,15674355,15635072,15492989,15489334,15380338,15326474,15284118,15154005,14766209,14745431,14741194,14630792,12842979,12808148,12660384,12522257,12477932,12176024,12119411,12023424,17591942,17568391,17566086,17532173,17448020,17438095,17377585,17363728,17344284,17299092,17298867,17261495,17214097,17193822,17145809,17137731,17079230,17070723,17047316,16892550,16850112,16804324,16785193,16730575,16697720,16690743,16685437,16675559,16502585,16498388,16373964,16357008,16344560,16331269,16305343,16283668,16186508,16168125,16135486,16126374,16116920,17623951,11953315,11882663,11776032,11752456,11468294,11342471,11297552,11279102,11175793,11046132,10837138,10733900,10066366,9819414,9546424,9484840,8943348,8894141,8774134,8702949,8647858,8617789,8586421,8486649,8261442,8188664,7896447,7665222,7535778,7523122,7519254,2544881,2531695,2161888,1847074,1711435,9234717,16189514 1580848,1580849,2292154,2292178,2292163,2292156,2292165,1580851,2292157,2292177,2292199,2292203 5156 NM_006206,AC098587,AC138779,CH471057,CS172399,CS172821,D50017,AA599881,AA625689,AV689272,BC015186,BC063414,DA678599,L25829,M21574,M22734,M30494,X76079 NP_006197,EAX05457,EAX05458,CAJ33669,CAJ33686,BAA08742,AAH15186,AAH63414,AAA96715,AAA60048,P16234,Q6P4H5,Q9UD28 Hs.74615 GDB:120267 CD140A|MGC74795|PDGFR2|Rhe-PDGFRA protein-coding 732897 PDGFRB platelet-derived growth factor receptor, beta polypeptide This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia. 1580850,1580851,1580863,2292203,2292200,2292214,2292206,2292178,2292228,2292215,2292198,2292211,2292174,2292176,2290496 2536956,2542288,17470632,10821867,18369471,18288404,18262053,18077793,17991872,17872908,17727656,17620338,17599906,17584975,17568996,17462601,17448020,17431412,17403678,17363728,17344284,17301821,17298867,17296564,17229632,17145809,17082185,17047316,16899864,16617096,16407661,16189514,16149045,16007172,15994317,15987639,15944146,15902258,15862965,15791568,15763428,15665766,15640155,15630487,15588985,15522237,15504957,15489334,15380338,15340161,15284236,15271984,15146197,15087372,15054045,14996833,14973141,14966296,14871970,14745431,14705808,14657000,14612918,14514732,12941951,12933652,12700668,12681492,12480944,12477932,12177062,12062403,11919393,11903042,11896619,11882663,11861293,11567151,11350938,11331882,11331881,11172806,11046132,11027258,10964931,10806474,10805725,10733900,10697503,10514377,10391677,10022833,9989826,9920285,9819414,9808151,9506992,9492013,9484840,9425276,9373237,9362449,9285559,9207175,9057949,9006901,8947043,8943344,8940081,8702949,8657151,8647858,8617789,8586421,8549654,8443409,8302579,8195171,8041791,7935391,7693727,7691811,7688466,7685273,7665222,7545675,7523122,3107886,2850496,2846185,2835772,2550144,2531695,2475255,2173144,2161888,2157284,1847074,1720539,1696179,1374684,1372092,15889147,7689724,8344248,1385407,7876130,7592796,7537362,8388538,8890167 1580850,1580851,2292203,2292200,2292214,2292206,2292178,2292228,2292215,2292198,2292211,2292174,2292176,2290496 5159 AC005895,AC011382,CH471062,U33172,AB209657,AI346188,AK293093,BC032224,CN268096,CR593034,J03278,M21616,NM_002609,M30493 NP_002600,EAW61746,EAW61747,EAW61748,AAC51675,BAD92894,BAF85782,AAH32224,AAA60049,AAA36427,P09619,Q59F04,ABM83050,ABW03350 Hs.509067 GDB:120710 CD140B|JTK12|PDGF-R-beta|PDGFR|PDGFR1 protein-coding 1317560 PDGFRL platelet-derived growth factor receptor-like This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. 1580863 12477932,7519877,7898930,15489334 5157 NM_006207,AB020863,AC124069,CH471080,CS208027,AK289450,BC010927,CR541952,CR596869,CR605626,D37965 NP_006198,EAW63811,CAJ44939,BAF82139,AAH10927,CAG46750,BAA07179,Q15198,ABM83870,ABM87191 Hs.458573 GDB:4512632 PDGRL|PRLTS protein-coding 736556 PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA. The PDH complex is composed of multiple copies of 3 enzymes: E1 (PDHA1); dihydrolipoyl transacetylase (DLAT; MIM 608770) (E2; EC 2.3.1.12); and dihydrolipoyl dehydrogenase (DLD; MIM 238331) (E3; EC 1.8.1.4). The E1 enzyme is a heterotetramer of 2 alpha and 2 beta subunits. The E1-alpha subunit contains the E1 active site and plays a key role in the function of the PDH complex (Brown et al., 1994 [PubMed 7853374]).[supplied by OMIM] 731230,1580863,1300048 17353931,3034892,18023225,17957032,17947500,17081983,17065338,16967364,16713755,16344560,15489334,15302935,14708897,14638692,12676647,12651851,12477932,11486000,11485553,10077682,9799265,9671272,9373149,9029794,9003499,8844217,8664900,8504306,8498846,8199595,8125298,8032855,7967473,7887409,7853374,7757088,7573035,7545958,3422424,2828359,2748588,2745444,2737678,2537010,2227443,1909401,1551669,1338114,1301207,1293379,16189514,7864652,15861126 731230 5160 AF085457,AF125053,AF125054,AF125055,AF125056,AF125057,AF125058,AF125059,AF125060,AF125061,AF125062,AF125063,AF125064,AF125065,AF125066,AF125067,AF125068,AF125069,AF125070,AF125071,AF125072,AF125073,AF125074,AF125075,AF125076,AF125078,AF125079,AF125080,AF125081,AF125082,AF125083,AF125084,AF125085,AF125086,NM_000284,EF590117,J03503,J03575,L13318,L48690,M24848,X52709,X52710,AF125088,AL732326,CH471074,D90084,M21447,M27257,U75933,U75934,U75935,U75936,U75937,U75938,AF125087,U75939,U75940,AK129887,AK222740,AK222988,AW204705,BC002406,CR590359,CR592178,CR604489,CR604641,CR605170,CR609764,CR614198,CR614489,CR615265,CR616765,CR624456,CR625908,DA075402,DC361191,EF576990,EF590116 NP_000275,AAD16047,AAD23841,AAD23842,AAD23843,AAD23844,AAD23845,AAD23846,AAD23847,AAD23848,AAD23849,AAD23850,AAD23851,AAD23852,AAD23853,AAD23854,AAD23855,AAD23856,AAD23857,AAD23858,AAD23859,AAD23860,AAD23861,AAD23862,AAD23863,AAD23864,AAD23866,AAD23867,AAD23868,AAD23869,AAD23870,AAD23871,AAD23872,AAD23873,ABQ59099,AAA60055,AAA60050,AAA60227,AAB59581,AAA36533,CAA36933,CAA36934,P08559,P78557,Q53GE3,Q53H41,Q5JPT8,Q5JPT9,Q5JPU0,Q5JPU1,Q5JPU2,Q5JPU3,Q6LCA3,Q99724,Q99725,Q9NP11,Q9UNV7,ABM82791,ABM85980,ABM85983,AAD23874,AAD23875,AAD23876,CAI41287,CAI41288,CAI41289,CAI41290,CAI41291,CAI41292,EAW98960,EAW98961,BAA14121,AAA31853,AAA60051,AAB39723,AAB39724,AAB39725,AAB39726,AAB39727,AAB39728,AAB39729,AAB39730,BAD96460,BAD96708,AAH02406,ABQ58815 Hs.530331 GDB:118895 PDHA|PDHCE1A|PHE1A protein-coding 1351234 PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 1580863 2249846,17081983,15489334,12477932,11673873,11577086,10542321,7864652,2122529,1581363 5161 NM_005390,AC093828,M86808,U23825,BC030697,BC066953,BC094760,BC119656,BC119657,BC127637,BC127638 AAI27639,P29803,NP_005381,AAA60232,AAF14652,AAH30697,AAH66953,AAH94760,AAI19657,AAI19658,AAI27638 Hs.131361 GDB:120711 MGC149517|MGC149518|PDHAL protein-coding 1343920 PDHB pyruvate dehydrogenase (lipoamide) beta 1599115,1580863 16189514,14638692,2376596,18206651,18164639,16381901,15489336,15489334,15138885,12651851,12477932,11577086,11230166,11076863,9824306,9373149,8125298,7895732,7864652,3422424,2829898,2377599,2323578,2295468,1967901,1702713 1599115 5162 NM_000925,AC135507,CH471055,D90086,AB209241,AK225569,AK225621,AL117618,AL706543,BC000439,BC001924,BC004115,CR541911,CR591704,CR594405,CR595069,CR595868,CR596425,CR596462,CR597137,CR597691,CR604454,CR604919,CR612410,CR617052,CR618291,CR618835,CR625583,J03576,M19123,M34055,M34056,M34479,M54788,X57778 NP_000916,EAW65371,EAW65372,EAW65373,BAA14123,BAD92478,CAB56017,AAH00439,AAH01924,CAG46709,AAA88097,AAA60052,AAA60233,AAA60054,AAA36428,AAA60053,CAA40924,P11177,Q0JTK6,Q59G68,CAL37877,CAL38156,ABM82292,ABM85472 Hs.161357 GDB:120268 DKFZp564K0164|PHE1B protein-coding 1352009 PDHX pyruvate dehydrogenase complex, component X The PDHX gene encodes component X of the pyruvate dehydrogenase (PDH) complex. For a detailed description of the pyruvate dehydrogenase complex, see MIM 300502. The mammalian PDH complex differs from that in E. coli and from the other mammalian alpha-keto acid dehydrogenases by the presence of a 53-kD protein called protein X. Component X binds to the E3 (MIM 238331) component of the PDH complex (Robinson et al., 1990 [PubMed 2112155]; Aral et al., 1997 [PubMed 9399911]).[supplied by OMIM] 1580863 17024456,16843025,16629643,16566017,16442803,16282329,16263718,16189514,15979049,15896300,15489334,15277425,14638692,12816949,12573248,12477932,12372595,11935326,11756538,9467010,9399911,9242632,9110174,8619474,8584393,7864652,2112155 8050 AC107928,AJ298105,AL138810,CH471064,AF001437,AF052166,BC010389,BX648910,CR597392,U79296,U82328,Y13145,NM_003477 CAC18649,EAW68158,EAW68159,EAW68160,AAB66315,AAH10389,AAB50223,AAC39661,NP_003468,CAA73606,O00330 Hs.502315 DLDBP|E3BP|OPDX|PDX1|proX protein-coding 1313029 PDIA2 protein disulfide isomerase family A, member 2 Protein disulfide isomerases (EC 5.3.4.1), such as PDIP, are endoplasmic reticulum (ER) resident proteins that catalyze protein folding and thiol-disulfide interchange reactions (Desilva et al., 1996 [PubMed 8561901]).[supplied by OMIM] 1580863 12095988,8561901,17978580,17055437,16677073,16407203,16344560,15489334,14684740,12766950,12485997,12477932,11968009,11488911,11157797,16507315,14592831,12218052,12218051,14500733,14980518 64714 AK075485,AK124931,BC000537,BC027964,BC075029,DA207692,U19948,Z84717,NM_006849,AE006463,CH471112,Z69667 CAO78188,AAH00537,AAH75029,AAC50401,Q13087,Q2WGM4,Q4TT65,Q4TT66,Q4TT67,Q6B010,NP_006840,AAK61223,EAW85838,CAI95586,CAI95587,CAI95588 Hs.66581 GDB:5218330 PDA2|PDI|PDIP|PDIR protein disulfide isomerase, pancreatic protein-coding 1606336 PDIA3 protein disulfide isomerase family A, member 3 This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. 17964282,9399589,3398923,16368681,17055437,8624847,7487104,16130169,18039656,17848102,17822402,17728248,17456022,17188166,17170699,17150345,17081065,17061245,16962936,16940051,16341674,16303743,16236267,16193070,16002696,15952740,15896298,15862831,1602151,1286669,1286667,16182193,15644496,12218052,12218051,16189514,12052826,15606899,15489334,15451439,15328618,15236594,14871899,14871896,14732712,12665801,12643545,12477932,12239218,12235131,12162574,12060494,12032078,11842220,11840567,11832422,10508608,10436013,9545232,9205111,9153243,9150948,9150946,8974399,8805302,8687406,8529662 2923 AAB37397 NM_005313,NG_005156,AC018512,CH471082,CS288579,U75875,U75876,U75877,U75878,U75879,U75880,U75881,U75882,U75883,U75884,U75885,AI769725,AK075455,AK075481,BC014433,BC036000,BC071878,BE644608,BG826781,BM854408,CR591129,CR595412,CR600812,CR602263,CR603011,CR608000,CR614986,CR618900,CR623113,D16234,D83485,U42068,Z49835 NP_005304,EAW77234,EAW77235,EAW77236,CAK18760,AAC51518,AAH14433,AAH36000,AAH71878,BAA03759,BAA11928,AAC50331,CAA89996,AAB37397,P30101,ABM83996,ABM87324 Hs.591095,Hs.705701 GDB:6244862 ER60|ERp57|ERp60|ERp61|GRP57|GRP58|HsT17083|P58|PI-PLC protein-coding 1348495 PDIA3P protein disulfide isomerase family A, member 3 pseudogene 9205111 171423 NR_002305,AL356378,U75886 GDB:6380709 ERp60|GRP58P pseudo 1605716 PDIA4 protein disulfide isomerase family A, member 4 17353931,2295602,17081065,16344560,15489334,12690205,12643545,12477932,12475965,12397072,9847074,9694898,9006956,2549034,2002068,1512535,1318337,16182193,15644496,12218052,12218051 9601 NM_004911,AACC02000041,AC093743,CH471146,CS288587,AK290971,AU139362,BC000425,BC001928,BC006344,BC011754,BX330378,CR605024,CX871856 NP_004902,EAL24425,AAQ96863,EAW80065,EAW80066,CAK18764,BAF83660,AAH00425,AAH01928,AAH06344,AAH11754,P13667,Q549T6,ABM84499,ABM85273 Hs.93659 ERP70|ERP72 protein-coding 1605694 PDIA5 protein disulfide isomerase family A, member 5 7556671,16713569,14702039,14627699,12477932,16182193,15644496,12218052,12218051 10954 NM_006810,AC083797,CH471052,AK054963,BC001625,CR607134,CR608001,CR610992,CR621275,CR622230,D49490 NP_006801,EAW79452,EAW79453,EAW79454,EAW79455,EAW79456,AAH01625,BAA08451,Q14554,Q9BV43 Hs.477352 FLJ30401|PDIR protein-coding 1354298 PDIA6 protein disulfide isomerase family A, member 6 Protein disulfide isomerases (EC 5.3.4.1), such as PDIA6, are endoplasmic reticulum (ER) resident proteins that catalyze formation, reduction, and isomerization of disulfide bonds in proteins and are thought to play a role in folding of disulfide-bonded proteins (Hayano and Kikuchi, 1995 [PubMed 7590364]).[supplied by OMIM] 1580863 17353931,7590364,15308636,16130169,17495932,17081983,17081065,16964243,16396496,16236267,15952740,15489334,15466936,15302935,14702039,12643545,12477932,12204115,9373149,9110174,8619474,8125298,1602151,16182193,15644496,12218052,12218051 10130 NM_005742,AC092687,CH471053,AK127433,AK131234,AK225496,AK289428,BC001312,BF979486,BM511594,CR590867,CR593821,CR594255,CR595109,CR595577,CR595714,CR599723,CR601036,CR601561,CR602648,CR602748,CR606166,CR606263,CR607388,CR608056,CR608933,CR614510,CR617062,CR618905,CR620116,CR622384,CR624923,D49489,U79278 NP_005733,AAY24070,EAX00949,EAX00950,BAC86977,BAF82117,AAH01312,BAA08450,AAB50217,Q15084,Q53RC7,ABM82112,ABM85295 Hs.212102 ERP5|P5|TXNDC7 thioredoxin domain containing 7 (protein disulfide isomerase) protein-coding 1352576 PDIK1L PDLIM1 interacting kinase 1 like 1580863 16710414,15489334,14631099,12477932 149420 NM_152835,AL391650,CH471059,AF411102,AL137407,AL834290,BC028713,BC035401 NP_690048,CAI17134,CAI17135,EAX07845,EAX07846,EAX07847,AAN03661,CAD38964,AAH28713,Q8N165 Hs.468801 CLIK1L|RP11-96L14.4 protein-coding 1602970 PDILT protein disulfide isomerase-like protein of the testis 15475357,14702039,12477932 204474 NM_174924,AC106796,AC137056,CH471186,AK097476,BC042607,BC044936 NP_777584,EAW50316,BAC05068,AAH42607,AAH44936,Q8N807 Hs.376025 protein-coding 69480 PDK1 pyruvate dehydrogenase kinase, isozyme 1 Pyruvate dehydrogenase (PDH) is a mitochondrial multienzyme complex that catalyzes the oxidative decarboxylation of pyruvate and is one of the major enzymes responsible for the regulation of homeostasis of carbohydrate fuels in mammals. The enzymatic activity is regulated by a phosphorylation/dephosphorylation cycle. Phosphorylation of PDH by a specific pyruvate dehydrogenase kinase (PDK) results in inactivation. 1580863 18184863,18003900,17785433,17683942,17327236,16737971,16517405,16344560,16251192,15591305,15489334,14966024,14718574,14702039,14500673,12676647,12573248,12477932,12374740,12177059,11978179,11781095,11486000,11485553,11313365,11278835,11222751,10995762,10896934,10753910,10480933,10357815,9748166,9707564,9512493,9445476,7864652,16189514,15678105,7499431,10748151,18298949,18204440 5163 NM_002610,AC018712,AC093818,CH471058,AK056110,AU118504,BC039158,CR594556,DQ234350,L42450 NP_002601,AAY14915,EAX11173,EAX11174,AAH39158,ABB29979,AAC42009,Q15118,Q308M4,Q53R49,ABM82226,ABM84274,ABM85410,ABM87667 Hs.470633 GDB:3789442 protein-coding 69481 PDK2 pyruvate dehydrogenase kinase, isozyme 2 1580863 7499431,18220415,18220414,17669420,16962287,16517984,16401071,15955060,15491151,15491150,15489334,15169745,14702039,12816949,12676647,12573248,12477932,11978179,11701428,11486000,11485553,11483605,10748134,10438924,10191262,16189514 5164 NM_002611,AC002401,CH471109,AK055119,AK290522,BC005811,BC040478,BC063137,L42451 NP_002602,EAW94642,EAW94643,EAW94644,BAF83211,AAH05811,AAH40478,AAH63137,AAC42010,Q15119,Q6P515 Hs.256667 GDB:3789443 PDHK2 protein-coding 1343163 PDK3 pyruvate dehydrogenase kinase, isozyme 3 1580863 7499431,17669420,17532006,16849321,15489334,15226823,14966024,12676647,12477932,12476789,11978179,11486000,11485553,10748134,16189514,15861126 5165 NM_005391,AC004552,AC004656,CH471074,BC015948,CR606226,CR626205,L42452 NP_005382,EAW99019,EAW99020,AAH15948,AAC42011,Q15120 Hs.658190 GDB:3789444 protein-coding 69113 PDK4 pyruvate dehydrogenase kinase, isozyme 4 This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. 1580863 15516373,15489334,15047604,14966024,14702039,12853948,12690205,12676647,12606505,12582211,12573248,12477932,12145475,11978179,11701428,11486000,11485553,11001762,9787110,9373149,8125298,7499431,16189514,8798399,17669420,16757381,16344560,15955060,15721319,15618316,15581486 5166 CH471091,NM_002612,AC002451,CH236949,U54618,U54619,U54620,U54621,U54622,U54623,U54624,U54625,U54626,U54627,U54628,AF334710,AK096428,AK098151,AK223328,BC040239,CR590426,DA923767,DB035430,U54617 NP_002603,AAB67048,EAL24127,EAL24128,EAW76758,EAW76759,AAC50670,BAD97048,AAH40239,AAC50669,Q16654,Q53FG1,ABM82182,ABM85367,EAW76757 Hs.8364 GDB:3789445 FLJ40832 protein-coding 68448 PDLIM1 PDZ and LIM domain 1 (elfin) 1580863 8522188,17213842,16609848,16189514,15592455,15489334,15164054,15144186,12665801,12477932,12464179,11973348,11882901,11110697,10861853,10753915,10022510 9124 NM_020992,AL157834,AL160288,AY923052,CH471066,AJ310549,BC000915,BC018755,CR592503,CR592822,CR593176,CR595649,CR597094,CR597896,CR598004,CR598061,CR598764,CR603182,CR603427,CR603481,CR605659,CR606954,CR607916,CR609039,CR610518,CR612014,CR614157,CR617851,CR619278,CR620933,CR621510,CR622661,CR623245,CR625777,U90878 NP_066272,CAH72341,AAW82438,EAW50009,EAW50010,EAW50011,EAW50012,CAC32846,AAH00915,AAH18755,AAC05580,O00151,ABZ92393 Hs.368525 GDB:9806343 CLIM1|CLP-36|CLP36|hCLIM1 pdz and lim domain 1 protein-coding 1353771 PDLIM1P PDZ and LIM domain 1 pseudogene 326616 NG_002606,AL117692 pseudo 1345506 PDLIM2 PDZ and LIM domain 2 (mystique) 12493773,17468759,15659642,15498874,15489334,14702039,12477932,11214971,8889548 64236 NM_021630,NM_176871,NM_198042,AC037459,CH471080,AF289563,AK024498,AK027800,AK055582,AK055782,AK056748,AK074031,AK090432,AK092968,AY007729,AY070438,AY217349,BC021556,BC071774,BU624103,BU737724,CR594495,CR596366,CR608632,CR623059 NP_067643,NP_789847,NP_932159,EAW63664,EAW63665,EAW63666,EAW63667,EAW63668,EAW63669,EAW63670,EAW63671,AAL55747,BAB15788,BAB55378,BAB84857,BAC03413,AAG16633,AAL65265,AAO45102,AAH21556,AAH71774,Q8NF47,Q8TET9,Q96JY6,ABM84590,ABW03503 Hs.632034 GDB:11508642 FLJ34715|MYSTIQUE|SLIM protein-coding 1351346 PDLIM3 PDZ and LIM domain 3 17254821,16192291,15489334,15084604,12477932,10063829,9373149,9334352,8828038,8125298 27295 NM_014476,NM_001114107,AC106897,CH471056,AF002280,AF002282,AF039018,AK129863,AK222966,BC001017,BC027870,BI913867,BT007341,BX647263,CR605535,CR622133,CR739525 NP_055291,NP_001107579,EAX04638,EAX04639,EAX04640,EAX04641,AAC16670,AAC16672,AAB96665,BAD96686,AAH01017,AAH27870,AAP36005,Q53GG5 Hs.85862 ALP|DKFZp686L0362 protein-coding 1353458 PDLIM4 PDZ and LIM domain 4 1580863 11884147,9573374,9373149,8125298,10826496,17332327,16192286,16189514,15663004,15489334,15231747,14729062,12908099,12477932 8572 NM_003687,AC034220,CH471062,U82997,AF153882,AF154335,AK225407,BC003096,BC016765,BT007019,CR590007,CR590174,CR595158,CR615682,CR616355,X93510 NP_003678,EAW62349,EAW62350,EAW62351,AAC52072,AAD38070,AAD34646,AAH03096,AAH16765,AAP35665,CAA63767,P50479,Q53Y39 Hs.424312 RIL protein-coding 1344700 PDLIM5 PDZ and LIM domain 5 The protein encoded by this gene is a LIM domain protein. LIM domains are cysteine-rich double zinc fingers composed of 50 to 60 amino acids that are involved in protein-protein interactions. LIM domain-containing proteins are scaffolds for the formation of multiprotein complexes. The proteins are involved in cytoskeleton organization, cell lineage specification, organ development, and oncogenesis. The encoded protein is also a member of the Enigma class of proteins, a family of proteins that possess a 100-amino acid PDZ domain in the N terminus and 1 to 3 LIM domains in the C terminus. Multiple transcript variants encoding different isoforms have been found for this gene, although not all of them have been fully characterized. 11256614,18456508,18197271,18021463,17287082,17081983,16595163,16549780,16381901,16213469,16044170,15555569,15489336,15489334,15362566,15346770,15334068,14743183,12665800,12477932,11230166,11076863,10833443,10429367,8940095,8889548,7698749,16189514 10611 NM_006457,NM_001011513,NR_003257,NM_001011515,NM_001011516,AC093778,AC108067,AC109925,CH471057,AA253314,AA888262,AB209531,AF061258,AI201986,AK027217,AK129886,AK291624,AK291898,AL049969,AL832157,AL832686,AL833151,AL833438,AL833439,AY345240,AY598328,BC008741,BC017902,BC026029,BF979604,BM670741,BQ049008,BT007328,CR608778,CR610626,D31139 NP_006448,NP_001011513,NP_001011515,NP_001011516,AAY40898,EAX06053,EAX06054,EAX06055,EAX06056,EAX06057,EAX06058,EAX06059,BAD92768,AAC15767,BAF84313,BAF84587,AAR09142,AAT06739,AAH08741,AAH17902,AAP35992,Q0JS26,Q0JSL7,Q0JT02,Q0JTH8,Q4W5K9,Q56VN4,Q59FC9,Q5UW38,Q8WVK0,Q96HC4,Q9P1D1,CAL38184,CAL38272,CAL38362,CAL38497,CAL38688,ABM81612,ABM84794 Hs.480311 ENH|ENH1|L9|LIM protein-coding 1606830 PDLIM7 PDZ and LIM domain 7 (enigma) The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. 16713569,7929196,18215669,17805464,17126496,16803868,16611643,16189514,15635413,15489334,14702039,12477932,12176011,11874232,10704826,10359609,9528800,8940095 9260 NM_203352,NM_005451,NM_213636,AC145098,CH471195,L35240,AF265209,AF345904,AF345905,AF345906,AK096826,BC001093,BC007648,BC014521,BC067806,BC084575,BG714861,BG772677,CB993539 NP_976227,NP_005442,NP_998801,EAW84985,EAW84986,EAW84987,EAW84988,AAC37565,AAF76152,AAK30567,AAK30568,AAK30569,AAH01093,AAH14521,AAH67806,AAH84575,Q9NR12,ABM83061,ABM86255 Hs.533040 LMP1 protein-coding 1603017 PDP2 pyruvate dehydrogenase phosphatase isoenzyme 2 15489334,12477932,11577086,10718198,9651365 57546 NM_020786,AC044802,CH471092,AB037769,AK292539,BC028030 NP_065837,EAW83048,BAA92586,BAF85228,AAH28030,Q9P2J9 Hs.654693 KIAA1348 protein-coding 732664 PDPK1 3-phosphoinositide dependent protein kinase-1 729514,1581775,1580863,1581774,2290458 11825911,11781095,11779851,11733037,11481331,11445557,11438723,11381116,11376011,11313365,11278835,11222751,11157489,11062054,10995762,10945988,10896934,10856237,10764742,10753910,10698939,10601311,10548550,10480933,10455013,10364160,10357815,10226025,10191262,9895304,9748166,9512493,9445477,9445476,9430688,9427642,9374542,9373149,9271440,9094314,8125298,16189514,9368760,14749367,10792047,9637919,10698680,9381178,9812896,10485710,11715018,12167717,12244303,12524439,15122200,15125833,15541657,15718470,17468049,18024423,17848913,17826953,17255356,17136479,17081983,16807684,16551362,16288304,16207722,15802620,15802604,15743829,15741170,15489334,15302935,15210700,15144186,15059930,14702039,14604990,14585963,14500673,12912918,12640464,12485998,12477932,12387817,12177059,12169624,12162751,12149249,12147684,12048203,11889038,11877406,12223477 729514,1581775,1581774,2290458 5170 CR536517,Y15056,NM_002613,NM_031268,AC005591,AC093525,AC141586,AJ406809,CH471112,AB209835,AF017995,AF111845,AK095507,AK131060,AK222581,AL157446,BC000789,BC006339,BC012103,BC012540,BC033494,BI830733,BC040324 CAG38755,CAA75341,O15530,Q53HJ9,Q59EH6,Q6FI20,Q9BRD5,Q9UPJ7,Q9UPJ8,ABM83223,ABM86422,NP_002604,NP_112558,AAC33797,CAC10873,EAW85495,BAD93072,AAC51825,AAF16685,BAD96301,AAH06339,AAH12103,AAH33494 Hs.459691 GDB:9836125 MGC20087|MGC35290|PDK1|PRO0461 protein-coding 1606573 PDPN podoplanin This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. 2292234,2292235,2292236,2292240,1302251,2292239,2292242,2292375,2292237,2292231,2292241,2292243,2292244,632934 10393083,18215137,18212541,18202409,18162779,17951199,17951198,17616532,17543889,17377811,17343736,17348451,17284957,17222411,17179989,16718353,16710414,16616332,16596424,16574316,16528371,16408168,16303743,15743802,15515019,15489334,15231832,14522983,12477932,9651190,8889548,8012384,7829101 2292234,2292235,2292236,2292240,1302251,2292239,2292242,2292375,2292237,2292231,2292241,2292243,2292244,632934 10630 AK075345,AW022996,AY194238,BC014668,BC022812,NM_006474,NM_198389,NM_001006624,NM_001006625,AL354712,AL357492,AL359771,CH471167,Z56464,Z60872,AB127958,AF030427,AF030428,AF390106,AJ225022,AK075327,BE887331,BF340649,BQ212176,BQ214601,CA312590,CD245679,CR602323,CR605194,CR615370 BAC11557,AAO22143,AAH14668,NP_006465,NP_938203,NP_001006625,NP_001006626,EAW51691,EAW51692,EAW51693,EAW51694,BAD04046,AAD01899,AAD01900,AAM73655,CAA12352,BAC11550,AAH22812,Q5T3U7,Q86YL7 Hs.468675 AGGRUS|GP36|GP40|Gp38|HT1A-1|OTS8|PA2.26|T1A|T1A-2 protein-coding 1602881 PDPR pyruvate dehydrogenase phosphatase regulatory subunit 14702039,12477932,12056414,9395502 55066 NM_017990,AC009022,AC009060,AB082521,AK000941,AK024608,AK093391,AK292502,AL117440,BC006246,BC032327,BC090941,BC150251,BX537614,BX538042,BX538153,CR592755,CR627404 NP_060460,BAC02699,BAA91436,BAF85191,AAI50252,CAH10819,CAH10555,CAH10494,Q6AWD0,Q8NCN5,Q9NWE6 Hs.655245 DKFZp686A088|DKFZp686D16130|FLJ10079 protein-coding 1349394 PDR pigment disorder, reticulate 5171 GDB:203409 1349373 PDRG1 p53 and DNA damage regulated 1 15489334,14743216,14562055,12477932,11780052,8889548 81572 NM_030815,AL031658,CH471077,AY286301,BC001856,BC009334,BM679702,CR608891,CR624404 NP_110442,CAB88101,EAW76399,EAW76400,AAP45329,AAH01856,AAH09334,Q9NUG6 Hs.435755 C20orf126|PDRG protein-coding 1604045 PDS5A PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 15855230,17353931,15837422,15019998,14702039,12477932,11590136,11076961,9734811 23244 NM_001100399,NM_015200,NM_001100400,AC098591,AC105287,AC113150,CH471069,AB014548,AF294791,AK001828,AK021757,AK023592,AK098331,AK124569,AY550968,BC009650,BC041361,BC114218,BC126225,CA412233,CR615359,CR749425 NP_001093869,NP_056015,NP_001093870,EAW92952,EAW92953,EAW92954,EAW92955,BAA31623,AAM82347,BAC05286,AAT52214,AAH09650,AAH41361,AAI14219,AAI26226,CAH18263,Q29RF7,Q96DB6 Hs.331431 DKFZp686B19246|FLJ41012|KIAA0648|MGC131948|MGC161503|PIG54|SCC-112 scc-112 protein protein-coding 1321969 PDS5B PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 10215036,15855230,10963680,16710414,15837422,15489334,15345747,15302935,12477932,12072405,10231032,8812419 23047 NM_015032,AL138820,CH471075,Z75889,AB023196,AK128502,AL137201,BC039256,BC070274,DB456240,U50533,U95825 NP_055847,EAX08520,BAA76823,CAB69911,AAH39256,AAH70274,AAD22134,Q49AQ9,Q9NTI5 Hs.708081 APRIN|AS3|CG008|FLJ23236|KIAA0979|RP1-267P19.1 protein-coding 1354063 PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1 The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. 16262699,17332895,15489334,15164054,12477932,10972372,9373149,8226825,8125298,8119922,7752843 23590 AL390961,CH471072,AB209763,AB210838,AF118395,AK024802,AK223414,BC049211,BC063635,CR591586,CR609440,NM_014317 NP_055132,CAI17280,EAW86084,EAW86085,BAD93000,BAE48216,AAD28559,BAD97134,AAH49211,AAH63635,Q59EP8,Q5T2R2 Hs.558468 COQ1|DPS|MGC70953|RP13-16H11.3|SPS|TPRT|TPT|hDPS1 trans-prenyltransferase protein-coding 1353926 PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 The isoprenoid chain of ubiquinone (coenzyme Q) varies in length between species and is determined by trans-polyprenyl diphosphate synthase. Humans possess a heterotetrameric decaprenyl diphosphate synthase composed of DPS1 (PDSS1; MIM 607429) and DLP1 (PDSS2) that produces Q10 ubiquinone (Saiki et al., 2005 [PubMed 16262699]).[supplied by OMIM] 16262699,17855635,15489334,14574404,12477932,9373149,8125298 57107 NM_020381,AL121957,AL355586,AL590489,AL591516,CH471051,AB210839,AF086233,AF254956,AJ420575,AK225629,AL832290,BC029491,BC039906,DC341808 NP_065114,CAH73572,CAH73573,CAI40034,CAI40036,EAW48400,BAE48217,AAF97788,AAH29491,AAH39906,Q86YH6 Hs.486095 C6orf210|DLP1|bA59I9.3|hDLP1 protein-coding 736367 PDX1 pancreatic and duodenal homeobox 1 The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). 1580863 8954967,17941991,8988180,18361919,18060872,17761145,17705277,17592437,17583748,17327436,17226789,17143557,17131142,17126328,17003361,16936193,16894468,16874866,16873704,16741735,16675598,16407209,11279116,11270685,11076863,11022198,10751390,10636926,10545531,10545530,9252422,9115263,9111329,8986763,8923459,8635654,7590740,7505393,16405074,16390394,16229747,16141209,16092045,15993959,15839736,15754742,15665000,15664999,15300214,15277425,15170499,15121856,15107297,15047618,15028719,14764823,14631368,12972592,12970316,12947327,12783165,12477932,12124776,12052878,11834421,11772903 3651 NM_000209,AF035260,AL353195,CH471075,S82178,AF049893,CA771381,CA848737,U30329,U35632,X99894 NP_000200,AAB88463,CAH72544,EAX08420,AAB47101,AAC05157,AAA74012,AAA88820,CAA68169,P52945,Q5VYW2,AAI11593 Hs.32938 GDB:448899 GSF|IDX-1|IPF1|IUF1|MODY4|PDX-1|STF-1 pancreatic and duodenal homeobox gene 1 2289644,2289645 BW509_H,BW511_H protein-coding 1604634 PDXDC1 pyridoxal-dependent decarboxylase domain containing 1 17353931,14702039,12477932,11591653,9039502 23042 BX648066,D87438,DQ111782,NM_015027,AC138932,CH471301,AK025504,AK090552,AY203955,BC025366,BC033748,BC036520,BC042104,BC045554,BC053946,BC060871,BX647809 BAA19780,AAZ14099,Q6P996,Q6XYB5,Q86XE2,NP_055842,EAW54748,AAP34478,AAH25366,AAH33748,AAH36520,AAH42104,AAH45554,AAH60871 Hs.370781 KIAA0251|LP8165 protein-coding 1605550 PDXDC2 pyridoxal-dependent decarboxylase domain containing 2 12477932 283970 NR_003610,AC009022,AK292860,AL833251,BC063633,AC026468 BAF85549,AAH63633,Q6P474 Hs.513695 FLJ23482 pseudo 1352351 PDXK pyridoxal (pyridoxine, vitamin B6) kinase The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 724656,1580863 9099727,16780588,17766369,16704963,16344560,16021519,15489334,15154080,15082224,14702039,12477932,10987144,10830953,9373149,9354586,8510562,8125298,6088736,2009 724656 8566 AL122067,NM_003681,AP001052,AP001053,AP001752,CH471079,AI131245,AI652877,AK024977,AK027018,AK056502,AK094630,AK225206,AL109793,AL110184,AL137632,AL161960,AL355712,AL355713,AW245602,AW245860,AY303972,BC000123,BC003651,BC005825,BC008008,BC021550,BC041020,BC063541,BE671761,BI871733,BQ653540,BU192292,CB989301,CR599985,CR601990,CR602839,CR607997,CR610657,CR613269,CR618585,CR621353,CX867421,DA116202,DA398180,DA736443,DA772127,DB010203,U89606 NP_003672,BAA95540,EAX09475,BAB15048,AAP73047,AAH00123,AAH03651,AAH05825,AAH08008,AAH21550,AAH41020,AAC51233,O00764,Q96HW9 Hs.284491 GDB:9955650 C21orf124|C21orf97|DKFZp566A071|FLJ31940|FLJ37311|MGC15873|MGC31754|MGC52346|PKH|PNK|PRED79 protein-coding 1351799 PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM] 737633 15580268,15489334,14702039,14522954,12477932,10591208,8132548 737633 57026 NM_020315,CH471095,Z83844,AK057265,AY125047,BC000320,BC009756,BC012832,BC018844,BC064922,CR600890,CR601934,CR614977,CR615223,CR615489,CR617653,CR617992,CR618685,CR620574 NP_064711,EAW60176,EAW60177,CAB63038,AAM94358,AAH00320,AAH09756,AAH64922,Q6ZT62,Q96GD0 Hs.632762 CIN|FLJ32703|PLP|dJ37E16.5 protein-coding 1343954 PDYN prodynorphin The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. 1580863 9047294,18334734,18184800,17559549,16924269,16914231,16529859,16314761,16274263,16184603,15894804,15489334,15301734,14552886,12644935,12590613,11992566,11835385,11803449,11780052,10871647,10646497,7759618,6316163,6281660,2893547,1978246,12477932,12207142 5173 NM_024411,AL034562,AY902648,AY902649,AY902650,AY902651,AY902664,AY902665,AY902666,AY902667,CH471133,K02268,X00176,X02536,AK289618,BC026334 NP_077722,CAB38875,AAY53973,AAY53974,AAY53975,AAY53976,AAY53989,AAY53990,AAY53991,AAY53992,EAX10604,AAA58456,CAA24999,BAF82307,AAH26334,P01213,Q2YEL0,Q2YEM6 Hs.22584 GDB:120269 MGC26418|PENKB protein-coding 1350594 PDZD11 PDZ domain containing 11 12477932,11230166,11076863,11042152,16381901,16344560,16051599,15772651,15489336,15489334,12975309,12763866 51248 AC002416,AF003528,AL139111,AL158141,AL357752,AL392090,AL450448,AL450449,CH471132,AF151061,AK024746,AY358829,BC012996,BC089433,NM_016484,BG708698,BX537725,CR457149,CR593661,DA115661 NP_057568,CAI41488,EAX05345,EAX05346,AAF36147,AAQ89188,AAH12996,AAH89433,CAD97820,CAG33430,Q0JTS6,Q5EBL8,CAL38086 Hs.11042 AIPP1|PDZK11|PISP protein-coding 735643 PDZD2 PDZ domain containing 2 Proteins containing PDZ domains have been shown frequently to bind the C-termini of transmembrane receptors or ion channels. They have also been shown to bind to other PDZ domain proteins and could possibly be involved in intracellular signalling. The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. 1580863 12671685,11289102,16413998,14702039,12477932,12370826,10896674,9205841,8889548,1731767,12421765 23037 AC025458,CH471118,AB002298,NM_178140,AC010449,AC010469,AC022447,AC025178,AF338650,AK021922,AK091490,AK128686,BC032023,BC057283,BX648242,CA503068 EAX10775,EAX10778,NP_835260,BAA20760,AAK07661,BAC87571,AAH32023,O15018,Q4G126,Q6ZQW2 Hs.481819 AIPC|KIAA0300|PAPIN|PDZK3|PIN1 papin protein-coding 1348843 PDZD3 PDZ domain containing 3 Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM] 11950846,15489334,14702039,12615054,12477932 79849 NM_024791,AP002956,CH471065,AB094096,AK026409,AK091966,AY047359,BC029042,BX648391 BAB15474,NP_079067,EAW67470,EAW67471,EAW67472,EAW67473,EAW67474,BAC76050,BAC03780,AAL10686,AAH29042,Q86UT5 Hs.374726 FLJ22756|IKEPP|PDZK2 protein-coding 1343770 PDZD4 PDZ domain containing 4 15489334,15138636,15077175,14702039,12477932,10819331,9286695,8661155 57595 NM_032512,CH471172,U52111,AB040877,AB103478,AF085862,AK091444,AK123229,AK123822,AK127016,BC002606,BC008599,BC020347,BC080584,BC117277,CR606934 NP_115901,EAW72795,EAW72805,BAA95968,BAD16631,BAC03666,AAH02606,AAH80584,AAI17278,Q17RL8,Q76G19 Hs.92732 FLJ34125|KIAA1444|LU1|PDZK4|PDZRN4L protein-coding 1320465 PDZD7 PDZ domain containing 7 737633,1580863 15164054,15489334,14702039,12477932,9373149,8125298 737633 79955 NM_024895,AL133215,CH471066,AK024422,AK026862,AK225136,BC029054 NP_079171,CAI10934,EAW49788,BAB15712,BAB15577,AAH29054,Q5JW17,Q9H5P4,Q9H7Q6 Hs.438245 PDZK7 protein-coding 1318503 PDZD8 PDZ domain containing 8 737633,1580863 17081983,15489334,15164054,14702039,12601173,12477932 737633 118987 NM_173791,AL359836,AL391988,CH471066,AK058141,AK091746,AL122051,AY211924,AY211929,BC012186,BC028375,BC033019 NP_776152,CAH73253,CAH70347,EAW49427,CAB59184,AAO65177,AAO65182,AAH28375,Q8NEN9 Hs.501149 FLJ25412|FLJ34427|PDZK8|bA129M16.2 protein-coding 732823 PDZK1 PDZ domain containing 1 16738539,15304510,9461128,17990980,17602283,17507652,16710414,16381901,16192282,16189514,16012170,15994332,15766278,15523054,15494376,15489336,15489334,15215163,14702039,14551195,14531806,12837682,12754212,12615054,12477932,12471024,12424224,12119305,11099500,11076863,11051556,10829064,10496535,9924606 5174 NM_002614,AL390725,CH471244,AF012281,BC006496,BC006518 NP_002605,CAI13715,CAI13716,EAW71441,EAW71442,EAW71443,AAC12264,AAH06496,AAH06518,Q0JSW2,Q5T2W1,CAL38402 Hs.444751 GDB:9863216 CAP70|CLAMP|NHERF3|PDZD1 protein-coding 737282 PDZK1IP1 PDZK1 interacting protein 1 18303113,17675338,17548903,17426052,17230460,16710414,15489334,14531806,12837682,12754212,12477932,11997341,9815914,9461128,8701988 10158 NM_005764,AL135960,CH471059,BC012303,BI763294,BM924665,CR450304 NP_005755,CAB72104,EAX06878,AAH12303,CAG29300,Q13113,Q6ICT9 Hs.431099 DD96|MAP17|RP1-18D14.5|SPAP protein-coding 1626137 PDZK1P1 PDZ domain containing 1 pseudogene 1 14702039 728939 NR_003377,AL356004,AK126719 Hs.696575 pseudo 1625088 PDZK1P2 PDZ domain containing 1 pseudogene 2 100034743 NG_005958,BX537254 pseudo 1348280 PDZK5C PDZ domain containing 5C 414180 1313169 PDZRN3 PDZ domain containing RING finger 3 737633,1580863 15489334,15458844,15305371,15188402,15010864,14702039,12477932,10470851,10431247 737633 23024 NM_015009,AC024102,AC103560,AC117489,AC119731,CH471055,AB029018,AK074573,AL049958,AL157498,BC014432,BC150623,BC152417 NP_055824,EAW65531,EAW65532,BAA83047,BAC11068,CAB75679,AAH14432,AAI50624,AAI52418,Q9UPQ7 Hs.434900 LNX3|SEMACAP3 protein-coding 1318876 PDZRN4 PDZ domain containing RING finger 4 16541075,15489334,15010864,14702039,12477932,11230166 29951 NM_013377,AC090531,CH471111,AK091096,AK094690,AK131554,AL133067,BC040922,BC093744,BC093746,BX640695 NP_037509,EAW57827,EAW57828,EAW57829,BAD18688,CAB61390,AAH40922,AAH93744,AAH93746,CAE45818,Q52LY3,Q6ZMN7 Hs.380044 LNX4|SAMCAP3L protein-coding 1314452 PEA15 phosphoprotein enriched in astrocytes 15 PEA15 is a death effector domain (DED)-containing protein predominantly expressed in the central nervous system, particularly in astrocytes.[supplied by OMIM] 1580863 10442631,9670003,8662970,18077417,17700518,17658892,17227770,14702039,12808093,12796492,12477932,11976344,11790785,11702783,10926929,10607908,10493725,9721757,9205133,8449955,16189514,17081983,17021921,16987961,16822839,16170361,16061647,16044159,15916534,15489334,15331596,15328349 8682 NM_003768,AF153274,AL121987,AL139011,CH471121,AK095879,BC002426,BC010469,BC022554,BT007252,CR541733,CR591446,CR591754,CR592001,CR593121,CR597460,CR607286,CR609118,CR616241,CR623664,L37385,X86809,Y13736 CAA74076,Q14801,Q15121,Q5JW79,Q5JW80,Q6FHL9,Q96FS5,ABM82747,ABM82750,ABM85934,NP_003759,AAD56775,CAI15277,CAI15278,CAI15279,EAW52733,EAW52734,EAW52735,AAH02426,AAH10469,AAH22554,AAP35916,CAG46533,AAA98120,CAA60499 Hs.517216 GDB:9958831 HMAT1|HUMMAT1H|MAT1|MAT1H|PEA-15|PED protein-coding 1642918 PEAR1 platelet endothelial aggregation receptor 1 PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM] 15851471 375033 NM_001080471,AL158169,AL356104,AK074121,AK098809,CR599082,CR609390 NP_001073940,CAH70011,CAH72941,BAB84947,BAC05419,Q5VY43,Q8N780 Hs.591470 FLJ00193|JEDI|MEGF12 protein-coding 736840 PEBP1 phosphatidylethanolamine binding protein 1 1580863 7637590,17353931,18375747,18294816,18172264,17952120,17911631,17179102,17145707,17097642,17081983,17030190,17018026,16916643,16865242,16513087,16243812,15489334,15327891,15001550,14766752,14654844,12551925,12477932,12421765,11853019,11585904,11034991,10757792,10622376,10490027,9782050,9373149,8738137,8144042,8125298,7807553,7641877,1602151,1286669,16189514,15782137 5037 NM_002567,AC026366,CH471054,AK226006,BC008714,BC017396,BC018799,BC031102,BF978793,CR590878,CR594432,CR595335,CR595492,CR596355,CR598446,CR606181,CR608267,CR612913,CR615482,CR618909,CR621357,CR626465,D16111,S76773,X75252,X85033 NP_002558,EAW98122,EAW98123,AAH08714,AAH17396,AAH31102,BAA03684,AAD14234,CAA53031,CAA59404,P30086,Q9H376 Hs.433863 GDB:118850 HCNP|PBP|PEBP|RKIP protein-coding 1606949 PEBP4 phosphatidylethanolamine-binding protein 4 16865237,15489334,15340161,15302887,12975309,12477932,10737800 157310 NM_144962,AC037441,AC055854,AC105046,CH471080,AY037148,AY359109,AY730275,BC020779,BF853000 NP_659399,EAW63647,AAK67629,AAQ89467,AAW56965,AAH20779,Q96S96 Hs.491242 CORK-1|CORK1|GWTM1933|MGC22776|PRO4408 protein-coding 1349615 PECAM1 platelet/endothelial cell adhesion molecule (CD31 antigen) 1581009,1581010,1598382,1580863 1690453,7994021,8080982,9054388,9774457,10350061,10858437,18301339,18182571,18060625,17940969,17922402,17954174,17785788,17704297,17580308,17510564,17509538,17483704,17460171,17429142,17365855,17212705,17194459,17130180,17116209,17113632,17106245,17068334,16984283,16681757,16551678,16518857,16507710,16426244,16357318,16308102,16219692,16002039,15985432,15908974,15756041,15753851,15731036,15668248,15644126,15592455,15589815,15550034,15550032,15489334,15488875,15265022,15249221,15249199,15231748,15196923,15065759,15048167,14991534,14754395,14566092,14519385,12915579,12893767,12893640,12850829,12775720,12732396,12689916,12681475,12658549,12653580,12651608,12649141,12646189,12616538,12610627,12581968,12552497,12477932,12468430,12433657,12397602,12393747,12393699,12393634,12378388,12215337,12127674,12110892,12027924,11940533,11927609,11795274,11791967,11776680,11719109,11469534,11250042,11149921,11056124,11019910,10982404,10801826,10655298,10571959,10425179,10091339,9774384,9624175,9620836,9551996,9298995,8955189,8876219,8661055,8532023,8226797,2351935,1874786,1700999 1581009,1581010,1598382 5175 AC016489,AC138744,CH471109,L34631,L34632,L34633,L34634,L34635,L34636,L34637,L34638,L34639,L34640,L34641,L34642,L34643,L34644,L34645,L34646,L34647,L34648,L34649,L34650,L34651,L34652,L34653,NM_000442,AF281298,AF281299,AF281300,AF281301,AF393676,AF393677,AF393678,AK290692,BC022512,BC051822,BG272085,CR595917,CR621687,CR625538,M28526,M37780,S66450,X96849,L34655,L34656,L34657,AF281287,AF281288,AF281289,AF281290,AF281291,AF281292,AF281293,AF281294,AF281295,AF281296,AF281297,L34654 NP_000433,EAW94207,EAW94208,AAA60057,AAF91456,AAF91457,AAF91458,AAF91459,AAF91460,AAK84009,AAK84010,AAK84011,BAF83381,AAH22512,AAH51822,AAA36429,AAA36186,AAB28645,P16284,ABM84570,AAF91446,AAF91447,AAF91448,AAF91449,AAF91450,AAF91451,AAF91452,AAF91453,AAF91454,AAF91455 Hs.514412,Hs.709189 GDB:696372 CD31|PECAM-1 protein-coding 1607074 PECI peroxisomal D3,D2-enoyl-CoA isomerase PECI is an auxiliary enzyme that catalyzes an isomerization step required for the beta-oxidation of unsaturated fatty acids.[supplied by OMIM] 15217832,14702039,14574404,12477932,12097419,11916962,11337467,11230166,10508479,10354522,9373149,8125298,10419495,11256614,15489334 10455 NM_206836,AL033383,CH471087,CQ783146,AB209917,AF069301,AF153612,AF244138,AF257175,AK057175,AK075108,AK222617,AK223003,AL136642,AU100345,AY297537,BC002668,NM_006117,BC008458,BC016781,BC017474,BC025287,BC033841,BC034702,BQ653836,CR456768,CR591762,CR592924,CR593971,CR603691,CR606157,CR607639,CR616873,CR625949 NP_006108,NP_996667,CAI42124,CAI42125,CAI42127,EAW55158,EAW55159,EAW55160,EAW55161,EAW55162,EAW55163,EAW55164,CAF86353,BAD93154,AAC19317,AAD34173,AAF66247,AAF68974,BAD96337,BAD96723,CAB66577,AAH02668,AAH16781,AAH17474,AAH33841,AAH34702,CAG33049,O75521,Q53GC8,Q53HG3,Q59E94,Q5JYK4,Q5JYK6,Q5JYK7,Q6IBN4,Q7L124,Q9NYD2 Hs.15250 GDB:9957054 ACBD2|DRS1|HCA88|KIAA0536|dJ1013A10.3 2289408 BW324_H protein-coding 1603637 PECR peroxisomal trans-2-enoyl-CoA reductase 10811639,16546181,15815621,15489334,12477932,11937624,11827452,11669066,11043578 55825 NM_018441,AC010686,CH471063,AF119841,AF212234,AF232009,AJ250303,BC002529,BG939782,BX471043,CR457145,CR591404,CR604406,CR615546,BG742200 NP_060911,AAY14657,EAW70557,EAW70558,AAF69595,AAK14920,AAF69798,CAB89810,AAH02529,CAG33426,Q9BY49 Hs.281680 HSA250303|TERP protein-coding 1352387 PEE1 preeclampsia/eclampsia 1 9150163 5177 GDB:7016765 1605152 PEF1 penta-EF-hand domain containing 1 PEF1 is a Ca(2+)-binding protein that belongs to the penta-EF-hand (PEF) protein family, which includes the calpain small subunit (CAPNS1; MIM 114170), sorcin (SRI; MIM 182520), grancalcin (GCA; MIM 607030), and ALG2 (PDCD6; MIM 601057) (Kitaura et al., 2001 [PubMed 11278427]).[supplied by OMIM] 10486255,16189514,16429158,14702039,12975309,12804766,12477932,12445460,11883899,11278427 553115 CR616399,CR616807,CR617960,CR618458,CR620262,CR621469,CR623196,CR623731,CR623948,NM_012392,AC114488,CH471059,AB018357,AB026628,AK001420,AK092483,AY359011,BC002773,BC012561,CR542139,CR592680,CR598087,CR603471,CR603990,CR604022,CR605540,CR606812,CR610369,CR612545,CR613784,CR614016,CR614671 Q9UBV8,NP_036524,EAX07598,EAX07599,BAA84922,BAA85163,BAA91680,AAQ89370,AAH02773,AAH12561,CAG46936 Hs.470417 PEF1A|PEFLIN protein-coding 1349907 PEG10 paternally expressed 10 This gene includes two overlapping reading frames of the same transcript encoding distinct isoforms. The shorter isoform has a CCHC-type zinc finger motif containing a sequence characteristic of gag proteins of most retroviruses and some retrotransposons, and it functions in part by interacting with members of the TGF-beta receptor family. The longer isoform has the active-site DSG consensus sequence of the protease domain of pol proteins. The longer isoform is the result of -1 translational frameshifting that is also seen in some retroviruses. Expression of these two isoforms only comes from the paternal allele due to imprinting. Increased gene expression (as observed by an increase in mRNA levels) is associated with hepatocellular carcinomas. 16225771,16093683,16053381,15767280,15716091,15611116,15342556,14576465,12853948,12810624,12620933,12477932,11574691,11318613,11158386,10470851,9110174,8619474,17942406,17621626,17369855,16423995,16344560 23089 NM_001040152,NM_015068,AC069292,CH236949,AB028974,AB049150,AB049834,AF038197,AF216076,AK025529,AL589326,BC015448,BC050659,BP250746,CR601832,CR606070,CR620082,DA683494,R17262,R79712 NP_001035242,NP_055883,AAS07484,BAA83003,BAB68387,BAB43951,AAH50659,Q86TG7 Hs.147492 GDB:11502992 Edr|HB-1|KIAA1051|MEF3L|Mar2|Mart2|RGAG3 protein-coding 1344453 PEG13 paternally expressed 13 359809 AY151252 1322359 PEG3 paternally expressed 3 1580863 16713569,16159311,16023706,15908796,15489334,12477932,11943780,11331620,11260267,10708526,10681424,9500555,9149948,11746496,18286529 5178 NM_006210,AC006115,AF208980,CH471135,AB003039,AB006625,AF208967,AF208968,AF208969,AF208970,BC037330,BC052616,BC150272,CR933682,U90336 NP_006201,AAC83176,AAG42324,AAG42325,EAW72478,BAB85588,BAA22956,AAG35739,AAG35740,AAG35741,AAG35742,AAH52616,AAI50273,CAI45975,AAB50011,Q96Q96,Q9GZU2 Hs.201776 GDB:6185985 DKFZp781A095|KIAA0287|PW1|ZSCAN24 protein-coding 1322532 PELI1 pellino homolog 1 (Drosophila) 17675297,16951688,15917247,15489334,14702039,12804775,12496252,12477932,11306823,11132151 57162 NM_020651,AC012368,CH471053,AF300987,AF302505,AJ278859,AK027668,AY364257,BC011419,BC050019,BC050533,BC063611,BX649152 NP_065702,AAY24274,EAW99948,EAW99949,EAW99950,AAG17451,AAG15393,CAC04320,BAB55280,AAQ76816,AAH11419,AAH50019,AAH63611,Q53T26,Q96FA3 Hs.7886 GDB:10796876 DKFZp686C18116|MGC50990 protein-coding 1353013 PELI2 pellino homolog 2 (Drosophila) 1580863 12860405,16713569,15489334,15213237,12804775,12477932,12370331,11306823 57161 NM_021255,AL138995,AL355073,CH471061,AF302502,AK025208,AL133605,AL709755,BC009476 NP_067078,EAW80689,AAG15390,BAB15084,CAH56388,AAH09476,Q659D8,Q9H716,Q9HAT8 Hs.657926 GDB:10796877 protein-coding 1605259 PELI3 pellino homolog 3 (Drosophila) Toll-like receptors (TLRs; see MIM 603030) and IL1R (IL1R1; MIM 147810) are part of the innate immune response aimed at mobilizing defense mechanisms in response in infection or injury. Pellino proteins, such as PELI3, are intermediate components in the signaling cascades initiated by TLRs and IL1R (Jensen and Whitehead, 2003 [PubMed 12874243]).[supplied by OMIM] 12874243,16344560,15917247,15489334,14702039,12477932 246330 NM_145065,NM_001098510,AP002748,CH471076,CQ783886,AF487456,AF487457,AK074201,AK075253,AK094060,AL834395,BC021256,BC025723,BC127759,CR606152,CR619936,DA203229 NP_659502,NP_001091980,EAW74532,EAW74533,EAW74534,EAW74535,EAW74536,CAF86908,AAO49465,AAO49466,BAB85015,BAC11499,BAC04275,CAD39057,AAH21256,AAH25723,AAI27760,Q8N2H9 Hs.656875 MGC35521 protein-coding 1343336 PELO pelota homolog (Drosophila) This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. 1580863 17353931,17669516,17081983,15635413,15489334,14702039,12477932,11060452,10810093 53918 BC007650,BC022789,CR590680,CR593440,CR598605,CR598853,CR599348,CR599988,CR604356,CR606638,CR609796,CR610567,CR611502,CR614560,CR617340,CR619811,CR620217,CR622976,BC007249,NG_002793,AC026230,AF143952,AF118075,AF132951,AF139828,AK025729,AK056144,AY117399,BC005889,NM_015946 AAH07249,AAH07650,AAH22789,Q9BRX2,Q9UHT8,NP_057030,AAG22575,AAF22019,AAD27726,AAG22574,AAM89414,AAH05889,ABM83876,ABM87197 Hs.669791,Hs.696076 GDB:10796393 CGI-17|PRO1770 protein-coding 1604366 PELP1 proline, glutamate and leucine rich protein 1 PELP1 is a coactivator of estrogen receptor (see ESR1; MIM 133430)-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors (Choi et al., 2004 [PubMed 15456770]).[supplied by OMIM] 17804729,17545633,17192406,17128415,17081983,16826428,16574651,16567619,16565220,16352611,16140940,16021574,15994929,15579769,15489334,15456770,15374949,15345747,15231748,14963108,12682072,12477932,12415108,12403846,11790298,11481323,15466214 27043 NM_014389,AC091153,CH471108,AF547989,AI927300,AK226056,AK291163,AY882602,BC002875,BC010457,BC039131,BC069058,DC417876,U88153,U88154 NP_055204,EAW90424,EAW90425,EAW90426,AAN41255,BAF83852,AAW80659,AAH02875,AAH10457,AAH69058,AAC17708,AAC17709,O15451,Q8IZL8 Hs.513883 HMX3|MNAR|P160 protein-coding 732310 PEMT phosphatidylethanolamine N-methyltransferase This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. The protein localizes to the endoplasmic reticulum and mitochondria-associated membranes. The gene is within the Smith-Magenis syndrome region on chromosome 17. Alternate splicing of this gene results in three transcript variants encoding two different isoforms. 1580863,1300048,729486,1642369,1642370,1642378 9989271,18230680,17881348,17720317,17456783,17391797,16816108,16051693,15927961,12931022,12842883,12477932,12431977,11997338,11420179,10931946,10100195,9371769,9370326,8978486,8344945,7219528,6830234,3223955,3025802,2722775,2295142,509240 729486,1642369,1642370,1642378 10400 NM_148172,NM_007169,NM_148173,AC020558,AF294468,CH471196,AB029821,AF044214,AF113126,AF176806,AF176807,BC000557,BC050593,CR457099,CR611135,CR614541 NP_680477,NP_009100,NP_680478,AAK19172,EAW55700,EAW55701,EAW55702,BAA82407,AAQ13425,AAF14867,AAD53291,AAD53292,AAH00557,AAH50593,CAG33380,Q6IAQ5,Q71UY0,Q86VL3,Q9BW86,Q9UBM1 Hs.287717 GDB:9865920 MGC2483|PEAMT|PEMPT|PEMT2|PNMT protein-coding 68998 PENK proenkephalin 1580863 18082911,17599100,17503481,17198183,17074347,16621157,16406203,15489334,12477932,12000709,11140838,9357452,9126357,8206338,7759618,7704301,7560016,7559749,6761648,6281660,2893547,1729392,7057924,18184800 5179 NM_006211,AC023464,CH471068,J00122,J00123,V00509,BC032505,BC107706,CR541808,CR541828 NP_006202,EAW86785,EAW86786,EAW86787,AAB59409,CAA23767,AAH32505,AAI07707,CAG46607,CAG46627,P01210,Q3B7B1,Q6FHC6,Q6FHE6,ABM81791,ABM81797,ABM84953 Hs.339831 GDB:120270 protein-coding 1317337 PEO1 progressive external ophthalmoplegia 1 Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars (Spelbrink et al., 2001).[supplied by OMIM] 1580863,1600544 17620490,17324440,16135556,15668446,15509589,15181170,15167897,15164054,14702039,12975372,12921794,12872260,12707443,12686611,12557300,12477932,12163192,11756592,11431692,7719341 1600544 56652 AF292004,AF292005,AK022959,AK025485,BC013349,BC033762,BG473173,CR593649,CR626239,BX640829,NM_021830,AL133215,CH471066 EAW49793,EAW49794,AAK69558,AAK69559,BAB15148,AAH13349,AAH33762,Q6PJP5,Q96RR1,Q9H6V3,CAE45905,NP_068602,CAI10924,CAI10925 Hs.22678 GDB:632784 C10orf2|FLJ21832|PEO|PEOA3|SANDO|TWINL protein-coding 1348424 PEPB peptidase B 5182 GDB:119477 1345031 PEPC peptidase C 5183 GDB:120272 1354493 PEPD peptidase D Xaa-Pro dipeptidase is a cytosolic dipeptidase that hydrolyzes dipeptides with proline or hydroxyproline at the carboxy terminus (but not Pro-Pro). It is important in collagen metabolism because of the high levels of iminoacids. 1580863 1972707,17999410,17604013,17570078,17377743,17142620,17096092,16999949,16713569,16097034,15878628,15489334,15309682,15302935,14702039,12477932,12384772,11840567,11820613,10965990,9373149,9328822,9020526,8900231,8198124,8125298,2925654,2881880,2705457,2365824,16189514 5184 NM_000285,AC008744,AC010485,M35496,AK057538,AK225037,AK290756,AK290781,AK291561,BC004305,BC015027,BC028295,BT006692,CR541669,CR590409,CR590549,CR598964,CR609932,CR617788,CR617814,CR619095,CR619694,CR626035,CR626494,DC385464,DC395475,J04605 NP_000276,BAF83445,BAF83470,BAF84250,AAH04305,AAH15027,AAH28295,AAP35338,CAG46470,AAA60064,P12955,ABM82040,ABM85220 Hs.36473 GDB:120273 MGC10905|PROLIDASE protein-coding 1350203 PEPE peptidase E 5185 GDB:120274 1349050 PER1 period homolog 1 (Drosophila) This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. Alternative splicing has been observed in this gene; however, these variants have not been fully described. 1580863 9323128,18228528,18095154,17994337,17984998,17971899,17699798,17621597,17592726,17440215,17274950,17264841,17106427,17081983,17051316,16757810,16678109,16528748,15917222,15790588,15781181,14750904,14712925,12782655,12477932,11865049,11726537,11597585,11306557,11165242,11119726,10940553,10857746,10848614,10837028,10790862,10531061,9856465,9455484,9427249,9333243,16189514,15800623,12916719,12893774 5187 BC028207,BC072458,BC137346,AB030817,AC129492,AF102137,AF284444,CH471108,AB002107,AB088477,AF022991,AK291061,NM_002616 AAH28207,AAH72458,AAI37347,O15534,Q6IN51,Q8N6U1,Q9H2D0,NP_002607,BAA94085,AAF15544,AAG01149,EAW90088,EAW90089,EAW90090,EAW90091,BAA22633,BAC06326,AAC51765,BAF83750 Hs.445534 GDB:9140443 MGC88021|PER|RIGUI|hPER protein-coding 737181 PER2 period homolog 2 (Drosophila) This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. 1600411,1580863 17218255,9427249,17971899,17599055,17457720,17440215,17274950,17106427,16528748,16519674,16344560,16338760,16120104,16097765,15985538,15815621,15800623,15790588,14750904,14712925,12565145,12477932,12372299,11533252,11232563,11165242,11076863,10848614,10837028,10531061,10428031,9856465,9349507,9205841,7592751 1600411 8864 NM_022817,AC012485,AY647991,CH471063,AB002345,AB012614,DA226434 NP_073728,AAX88976,AAT68170,EAW71153,EAW71154,EAW71155,BAA20804,BAA83709,O15055,Q6DT41,AAI11454 Hs.58756 GDB:9785653 FASPS|KIAA0347 period homolog 2 protein-coding 1352533 PER3 period homolog 3 (Drosophila) This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. Circadian expression in the suprachiasmatic nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. 1580863 17984998,17512705,17451453,17346965,17309758,16999817,16710414,16528748,15790588,15700718,15475734,14750904,14712925,14701732,12655319,12477932,11865049,11306557,10899319,10837028,10428031,9427249,7622044,16189514,15800623 8863 NM_016831,AB047521,AB047530,AB047531,AB047532,AB047533,AB047534,CH471130,Z98884,AB047686,AL157954,AY493418,BC026102,BC111010,BC146781 NP_058515,BAB63250,BAB63251,BAB63252,BAB63253,BAB63254,BAB63255,EAW71583,EAW71584,EAW71585,EAW71586,CAI21434,CAI21435,CAI21436,BAB32925,CAB76084,AAS72879,AAH26102,AAI11011,AAI46782,P56645,Q2TAB4,Q5H8X5,Q8TAR6 Hs.533339 GDB:9957452 GIG13 protein-coding 1352306 PERLD1 per1-like domain containing 1 17117180,16303743,15010812,12975309,12739007,12477932,12460457 93210 NM_033419,NG_007503,AC087491,CH471152,AB088396,AF217980,AK057911,AK075473,AK075474,AK289612,AL833198,AY358437,BC010652,CR616643 NP_219487,EAW60589,EAW60590,EAW60591,EAW60592,EAW60593,EAW60594,BAC55580,AAG17223,BAC11642,BAF82301,AAQ88803,AAH10652,Q86Z03,Q8NBJ8,Q96FM1,Q9HBS1 Hs.462971 AGLA546|CAB2|MGC9753|PGAP3|PP1498 protein-coding 1321113 PERP PERP, TP53 apoptosis effector 16303743,15489334,14726658,14702039,14574404,12752121,12477932,11062687,10733530,9373149,8125298 64065 CR592083,CR601676,CR602989,CR604358,CR606105,CR607802,CR615716,CR617416,CR621531,CR623871,AL023582,NM_022121,AL355362,CH471051,CQ782552,AF317550,AJ251830,AK074585,AK075082,AK093516,AK097387,AK097958,AK225907,AY157578,BC010163,CR590833,CR591362,CR591601 Q96FX8,ABM83596,ABW03525,CAI21563,NP_071404,CAI21518,EAW47920,EAW47921,CAF85829,AAG35063,CAC17766,BAC11074,BAC11390,BAC05205,AAO13162,AAH10163 Hs.520421 KCP1|KRTCAP1|PIGPC1|RP3-496H19.1|THW|dJ496H19.1 protein-coding 1342716 PERQ2 PERQ amino acid rich, with GYF domain 2 59281 GDB:10796985 1352026 PERQ3 PERQ amino acid rich, with GYF domain 3 59280 GDB:10796986 1345815 PES1 pescadillo homolog 1, containing BRCT domain (zebrafish) This gene encodes a protein that is abnormally elevated in malignant tumors of astrocytic origin. It is a strongly conserved gene containing a BRCT domain that is essential for the activity of this gene product. The gene plays a crucial role in cell proliferation and may be necessary for oncogenic transformation and tumor progression. 1580863 17353931,8985183,17353269,16344560,16043514,15635413,15489334,15467761,15461802,15273728,15225545,14702039,12477932,12429849,12022229,11790298,11071894,10591208,9847074 23481 NM_014303,AC005006,CH471095,AK096320,AK127185,AU130886,BC032489,BQ576244,CR456539,CR597567,CR597817,CR598932,CR607111,CR607661,CR608043,CR608268,CR611212,CR620248,CR620678,U78310 NP_055118,EAW59904,EAW59905,EAW59906,AAH32489,CAG30425,AAB61140,O00541,CAK54570,CAK54869 Hs.517543 GDB:9956619 PES protein-coding 1317305 PET112L PET112-like (yeast) 1580863 9878253,12665801,12477932,11042152,9373149,8125298 5188 NM_004564,AC092611,CH471056,AB019410,AF026851,AF151033,AK222887,AK225241,BC067838,BC130348,BC136547,BX537555,CR595488,CR621716 NP_004555,AAY40897,EAX04981,EAX04982,EAX04983,AAD08640,AAF36119,BAD96607,AAI30349,AAI36548,CAH56162,O75879,Q4W5M8,Q53GP4,Q63Z41 Hs.119316 GDB:9863217 HSPC199|PET112 protein-coding 1346322 PEX1 peroxisome biogenesis factor 1 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. 1580863 16449325,9398847,9398848,16344560,16088892,16086329,15502339,15489334,15328346,15098234,12853948,12840548,12717447,12690205,12477932,12402331,12126625,12032265,11439091,10447258,9671729,9588209,9539740,9447990,2606480,16257970,16141001 5189 NM_000466,AC000064,AC007566,CH236949,CH471091,AB008112,AB052090,AB052091,AB052092,AB052093,AB052094,AB209355,AF026086,AF030356,AI377121,AK292955,BC035575,CR598710,DA313282,DB461678 NP_000457,AAB46346,EAL24149,EAL24151,EAW76840,EAW76841,EAW76842,EAW76843,EAW76844,BAA85162,BAB59061,BAB59062,BAB59063,BAB59064,BAB59065,BAD92592,AAB87880,AAB99758,BAF85644,AAH35575,O43933,Q59FV4,Q96S69,Q96S70,ABM81847 Hs.164682 GDB:9787110 ZWS1 protein-coding 1319563 PEX10 peroxisome biogenesis factor 10 This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 10837480,9700193,9683594,9922452,16710414,15489334,14713216,14702039,12477932,11390669,10862081,10704444,10562279,16189514,12096124 5192 CR599184,CR606975,CR607804,CR615529,NM_153818,NM_002617,AL513477,CH471183,AB013818,AF060502,AK124816,BC000543,BC018198,CR542077 CAG46874,O60683,Q6FGN0,ABM82887,ABM86077,NP_722540,NP_002608,CAI22603,EAW56105,EAW56106,EAW56107,EAW56108,BAA87895,AAC18133,AAH00543,AAH18198 Hs.591454 GDB:9864383 MGC1998|NALD|RNF69 protein-coding 1348303 PEX11A peroxisomal biogenesis factor 11A 1580863 9792670,9714566,9922452,17220199,16567422,15489334,14702039,12477932,10704444,16189514 8800 NM_003847,AC013787,CH471101,AB015594,AF093668,AK001415,BC009697,BC101164,BC114384,CR542046,CR542075 NP_003838,EAX02062,BAA32533,AAC78658,AAH09697,AAI01165,AAI14385,CAG46843,CAG46872,O75192,Q29R61,ABM84294,ABM87685,ABM87686,ABM87687,ABW03601 Hs.31034 GDB:9957263 MGC119947|MGC138534|PEX11-ALPHA protein-coding 1321208 PEX11B peroxisomal biogenesis factor 11B 1580863 10704444,17408615,15489334,14702039,12618434,12477932,12096124,9826565,9792670,16189514 8799 NM_003846,AL160282,CH471244,BC011963,CR542047,CR608642,AB018080,AF093670,AK023991,AK094173 NP_003837,AAH11963,CAG46844,O96011,EAW71422,EAW71423,BAA34812,AAC78660 Hs.504284 GDB:9956983 PEX11-BETA protein-coding 1316043 PEX11G peroxisomal biogenesis factor 11 gamma 1580863 15489334,12559946,12477932,12417726 92960 NM_080662,AC008878,CH471139,AB095921,AL833945,BC008780 NP_542393,EAW69037,EAW69038,BAD01558,CAD38800,AAH08780,Q96HA9 Hs.515100 MGC4281 protein-coding 731687 PEX12 peroxisomal biogenesis factor 12 The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).[supplied by OMIM] 729522,1580863 10562279,10704444,10837480,12096124,12456682,9354782,9922452,17534573,16813573,15489334,15241794,14571262,12477932,11390669,9792857,9792670,9632816,9090384 729522 5193 U91521,NM_000286,AC015911,CH471147,U91522,AB004546,BC015751,BC031085 AAC68812,O00623,ABM85048,AAH31085,NP_000277,EAW80143,AAC68813,BAA31559,AAH15751 Hs.591190 GDB:6155804 protein-coding 1321726 PEX13 peroxisome biogenesis factor 13 1580863 10704444,8858165,16449325,16006427,15489334,14715663,12477932,12096124,11865044,11402059,11390669,10441568,10441330,10332040,10087260,9878256,9653144,9094717 5194 CR609626,U71374,NM_002618,AC010733,CH471053,AB022192,AF048755,BC067090 AAH67090,AAD05572,Q92968,NP_002609,EAX00017,EAX00018,EAX00019,EAX00020,EAX00021,BAA88907,AAC39844 Hs.567316 GDB:6277903 NALD|ZWS protein-coding 68470 PEX14 peroxisomal biogenesis factor 14 This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. 1580863 10704444,10212238,16449325,9653144,17081983,16710414,16344560,15489334,15146459,14715663,14702039,12488033,12477932,12096124,11865044,11863372,10022913,16189514,10087260,9094717,11909966,9425153 5195 NM_004565,AL139423,AL354956,AL591403,CH471130,AB017546,AF045186,AK002194,BC006327,BC017848,BC054017,CR450321,CR542083,CR599838,CR601012,CR601822,CR613663,DA494578 NP_004556,CAD20149,CAI19198,CAH70044,EAW71659,EAW71660,EAW71661,BAA36837,AAC39843,AAH06327,AAH17848,CAG29317,CAG46880,O75381,Q8WVL1,ABM83701,ABM86831 Hs.149983 GDB:9864384 MGC12767|NAPP2|Pex14p|dJ734G22.2 protein-coding 1322796 PEX16 peroxisomal biogenesis factor 16 The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. 1580863 15713480,16717127,9837814,12223482,9922452,15813749,15489334,14709540,12477932,12096124,11890679,11390669,10704444,16189514 9409 NM_057174,NM_004813,AC068385,CH471064,AB016531,AF118240,BC000467,BC004356,CR612893,CR619814 NP_476515,NP_004804,EAW68022,EAW68023,EAW68024,BAA88826,AAD22466,AAH00467,AAH04356,Q9BWB9,Q9Y5Y5 Hs.100915 GDB:9956639 protein-coding 1315796 PEX19 peroxisomal biogenesis factor 19 1580863 10704444,9339377,16895967,16791427,16582619,16344115,16280322,15781447,15489334,15252024,15231748,15007061,14715663,14713233,14709540,14558883,12477932,12096124,11883941,11453642,11390669,11259404,10777694,10051604,9418908,8076834,16189514 5824 NM_002857,AL513282,CH471121,Y09048,AB018541,AB062286,AY434724,BC000496,BT006879,CB993363,CR603590,CR606003,CR623597,X75535,CR606477,CR611992 NP_002848,CAI12456,CAI12457,EAW52727,EAW52728,EAW52729,CAA70257,BAA76291,BAB93469,AAH00496,AAP35525,CAA53225,P40855,Q5QNY4,Q5QNY5,ABM82343,ABM85517 Hs.517232 D1S2223E|HK33|PMP1|PMPI|PXF|PXMP1 protein-coding 1350248 PEX26 peroxisome biogenesis factor 26 This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Two transcript variants encoding the same protein have been identified for this gene. 15713480,16854980,15858711,16763195,16344560,16257970,16189514,15489334,15461802,15342556,14702039,12851857,12717447,12477932,10591208 55670 BC047320,BG257217,BG910944,BP270408,CR456362,DA164404,BC016280,NM_017929,NM_001127649,AC016027,CH471193,AB089678,AB103104,AB103105,AB103106,AB103107,AB103108,AB103109,AB103110,AB242826,AB242827,AB242828,AB242829,AB242830,AI375247,AI636019,AK000065,AK000702 AAH16280,AAH47320,CAG30248,Q2PEF9,Q2PEG0,Q2PEG1,Q2PEG2,Q2PEG3,Q7Z2D7,Q7Z412,CAK54504,CAK54803,NP_060399,NP_001121121,EAW57782,EAW57783,EAW57784,BAC66616,BAC78802,BAC78803,BAC78804,BAC78805,BAC78806,BAC78807,BAC78808,BAE72692,BAE72693,BAE72694,BAE72695,BAE72696,BAA90920,BAA91329 Hs.517400,Hs.648441 FLJ20695|PEX26M1T|Pex26pM1T protein-coding 1352714 PEX3 peroxisomal biogenesis factor 3 1580863 10704444,11883941,10958759,12924628,15007061,9657383,10430017,16895967,15489334,14713233,14574404,12477932,12096124,11390669,10968777,10848631,10679269,9922452,16189514 8504 NM_003630,AJ009866,AJ009867,AJ009868,AJ009869,AJ009870,AJ009871,AJ009872,AJ009873,AJ009874,AL031320,CH471051,AB035307,AJ001625,AJ131389,AK025644,AY277600,BC014551,BC015506,CR542062,CR593089,CR595026,CR615782,CR621449 NP_003621,CAA08904,CAB53744,CAD92492,EAW47866,BAA97993,CAA04879,CAA10362,AAQ18039,AAH14551,AAH15506,CAG46859,P56589,Q6FGP5,Q7Z6V3 Hs.7277 GDB:9955507 TRG18 protein-coding 1316906 PEX5 peroxisomal biogenesis factor 5 1580863 9653144,10837480,17428317,17399738,17317787,17157249,16403517,16314507,16189514,16169070,15911627,15866874,15489334,15328363,12578380,12477932,12456682,12411433,12096124,11865044,11546814,11438541,11415446,11101887,10567403,10562279,10462504,10212238,9820813,9418886,9398847,14652019,9373149,8991089,8858165,8586442,8125298,7790377,7719337,7706321 5830 NM_000319,AC018653,CH471116,AK225126,AK292256,BC010621,CR606696,CR624220,U19721,X84899,Z48054 NP_000310,EAW88670,EAW88671,EAW88672,EAW88673,EAW88674,EAW88675,BAF84945,AAH10621,AAC50103,CAA59324,CAA88131,P50542,Q13335,ABM82068,ABM85247 Hs.567327 PTS1R|PXR1 protein-coding 1345397 PEX5L peroxisomal biogenesis factor 5-like 737633 15489334,15302887,12477932,11463335 737633 51555 NM_016559,AC007687,AC090024,AC092939,CH471052,AB032592,AB032593,AJ245503,BC036183 NP_057643,EAW78382,EAW78380,EAW78381,BAA92878,BAA92879,CAC01120,AAH36183,Q8IYB4 Hs.478393 PEX5R|PXR2|PXR2B protein-coding 734166 PEX6 peroxisomal biogenesis factor 6 1580863,729462 8670792,8940266,16257970,15489334,15231748,14651998,12717447,12477932,11873320,11355018,10408779,9671729,9588209,9373149,8125298 729462 5190 AF108098,AL158815,CH471081,U56602,AB051076,NM_000287,AB051077,AB051078,AB208906,AK225704,BC033487,BC048331,D83703 Q13608,Q59H53,NP_000278,AAF62564,CAI19463,EAX04125,EAX04126,EAX04127,EAX04128,EAX04129,AAC50655,BAB83046,BAB83047,BAB83048,BAD92143,AAH48331,BAA12069,Q5T8W1,Q8WYQ0,Q8WYQ1 Hs.656425 GDB:5592414 PAF-2|PAF2|PXAAA1 protein-coding 1318278 PEX7 peroxisomal biogenesis factor 7 1580863 12522768,9090382,18327563,15489334,14974078,14713215,12477932,12325024,11931631,11865044,11781871,11546814,10673331,10212238,10087260,10083738,9472033,9326939,16189514,9090381,9090383 5191 NM_000288,AF180814,AL121933,AL357082,CH471051,BC006268,BC031606,CR542054,CR542076,CR594787,U76560,U88871,AL365223 NP_000279,AAF37350,CAI15471,CAI15472,CAI15714,EAW47940,EAW47941,AAH06268,AAH31606,CAG46851,CAG46873,AAB50556,AAC51238,O00628,Q6FGN1,Q8N5U4 Hs.280932 GDB:6155803 PTS2R|RCDP1|RD protein-coding 735657 PF4 platelet factor 4 (chemokine (C-X-C motif) ligand 4) Platelet factor-4 is a 70-amino acid protein that is released from the alpha-granules of activated platelets and binds with high affinity to heparin. Its major physiologic role appears to be neutralization of heparin-like molecules on the endothelial surface of blood vessels, thereby inhibiting local antithrombin III activity and promoting coagulation. As a strong chemoattractant for neutrophils and fibroblasts, PF4 probably has a role in inflammation and wound repair (Eisman et al., 1990 [PubMed 1695112]).[supplied by OMIM] 1580863 12466273,9531587,12041672,6945600,1688470,2140694,11685038,5789664,14718574,18000592,17998245,17914028,17827342,17700216,17675521,17636189,17381065,17265155,17220270,17218382,17090548,17077331,16881736,16806233,16317101,16304054,15994292,15964840,15815621,15788441,15728475,15591119,15531763,15489334,15459010,15304392,15291808,15265941,15187018,15034805,14652645,14592823,14575696,12878486,12782716,12732210,12609838,12586630,12477932,12384403,12223528,12193731,12097379,11986215,11830470,11468158,10464257,9558385,9395524,8613703,8511754,8031770,7835432,7547867,7524669,6445090,6187750,3622011,3098319,1695112,893407,803847,601757,267922 5196 NM_002619,AC097709,AF349466,CH471057,BC093965,BC112093,CR407677,M25897 NP_002610,AAY41003,AAK29643,EAX05694,AAH93965,AAI12094,CAG28605,AAA60066,P02776,Q9UC64,Q9UC65 Hs.81564 GDB:119479 CXCL4|MGC138298|SCYB4 protein-coding 1353530 PF4V1 platelet factor 4 variant 1 1580863 15459074,12665801,2725510,1695112 5197 P10720 BC130657,NM_002620,AC092438,CH471057,M26167,BC130653 AAI30654,AAI30658,P10720,NP_002611,EAX05692,AAA60067 Hs.72933 GDB:125382 CXCL4V1|PF4-ALT|PF4A|SCYB4V1 protein-coding 1312648 PFAS phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. 1580863 8110788,10548741,17353931,17081983,12477932,9328467,9205841 5198 BC167158,NM_012393,AC135178,CH471108,AB002359,AK292402,AK292804,BC006522,BC009318,BC031807,BC063538,BC146768 AAI67158,O15067,Q6P4B4,Q9BR56,NP_036525,EAW90067,EAW90068,EAW90069,BAA20816,BAF85091,BAF85493,AAH06522,AAH63538,AAI46769 Hs.573976 GDB:9786124 FGAMS|FGARAT|KIAA0361|PURL protein-coding 1313729 PFDN1 prefoldin subunit 1 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. 1580863 8744932,16415341,16169070,14702039,14634002,14615539,12748950,12477932,12456645,11884745,11535601,11521196,10542082,10209023,10191080,9630229,9373149,16189514 5201 O60925 BC006202,BC011869,BG707314,CR597655,CR599219,CR603344,CR604906,CR605241,CR610512,NM_002622,AC011380,CH471062,AA910992,AK093558,AK223394,BC003620,CR613979,CR622770,CR623755,Y17392 AAH03620,AAH06202,AAH11869,NP_002613,EAW62070,EAW62071,EAW62072,BAD97114,CAA76759,O60925 Hs.483564 GDB:9864385 PDF|PFD1 protein-coding 1349968 PFDN2 prefoldin subunit 2 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. 1580863 9630229,15489334,14743216,14634002,12477932,11042152,10931946,10542082,10209023,10051400,14615539,17353931 5202 NM_012394,AL591806,CH471121,AF117237,AF151065,AF165883,AK024531,BC012464,BC047042,BI597083 NP_036526,CAI15378,EAW52658,AAF17218,AAF36151,AAD47084,AAH12464,AAH47042,Q5SY55,Q9UHV9 Hs.492516 GDB:9864386 PFD2 protein-coding 1347549 PFDN4 prefoldin subunit 4 This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. 1580863 9630229,14634002,12477932,12456645,11884745,11381030,10542082,10209023,8744932 5203 Q5TD10,Q9NQP4 NM_002623,AL133335,CH471077,BC010953,CN482830,CR612321,U41816 NP_002614,CAI19316,EAW75572,AAH10953,AAB17063,Q5TD10,Q9NQP4 Hs.91161 GDB:9864387 C1|PFD4 prefoldin 4 protein-coding 1322898 PFDN5 prefoldin subunit 5 This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 9792694,16130169,18281035,16173081,15489334,14702039,12477932,11844794,11567024,10542082,10209023,9630229,14634002 5204 NM_002624,NM_145897,AB055802,AC073611,CH471054,AB055803,AB055804,AB055805,AK024094,AK292623,BC003373,BC062671,BE392248,BT007195,CR597448 NP_002615,NP_665904,BAB32643,EAW96683,EAW96684,EAW96685,EAW96686,BAB32644,BAB32645,BAB32646,BAF85312,AAH62671,AAP35859,Q99471,Q9C083,Q9C084 Hs.655327 GDB:9864388 MGC5329|MGC71907|MM-1|MM1|PFD5 protein-coding 1351314 PFDN6 prefoldin subunit 6 1300397,1580863 9630229,17257322,15489334,14634002,12477932,9545376,9521053,8889548,17353931,14743216 1300397 10471 NM_014260,AL662820,AL662827,BX000343,CH471081,CR759786,CR759817,BC039033,BC059783,BE794658,BM834357,BU734446,CR609151 NP_055075,CAI18116,CAI17519,CAI41831,EAX03705,EAX03706,EAX03707,CAQ08255,CAQ08025,AAH39033,AAH59783,O15212,Q5STK2,Q95HJ9 Hs.446374 GDB:9957097 H2-KE2|HKE2|KE-2|MGC70744|PFD6 hla class ii region expressed gene ke2 protein-coding 732809 PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. 1580863,1300048 2837207,12379646,12721358,16344560,15772651,15489334,12477932,9119406,2540168,2163524 5207 NM_002625,AL020991,AL049732,CH471154,BC096077,BC096078,BC096079,DB187700,M19938,X52638 NP_002616,EAW93207,AAH96077,AAH96078,AAH96079,AAA35818,CAA36861,P16118,Q4VBA8,Q4VBA9 Hs.444304 GDB:125375 F6PK|HL2K|MGC116715|MGC116717|PFRX protein-coding 69042 PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. 1580863,1300048 9652401,16710414,15489334,15324660,14702039,12853467,12477932,12065600,11522786,11374908,11245921,11129574,9464277,7904197,1655632,1322130 5208 BC069385,BC069583,BC069586,BC069600,BC075075,BC075076,BC112103,BC112105,NM_001018053,NM_006212,BX510096,CR749442,AJ005577,AL445493,CH471100,AB044805,AF470623,AJ005578,AK125661,AK292883,BC069350 AAH69385,AAH69583,AAH69586,AAH69600,AAH75075,AAH75076,AAI12104,NP_001018063,AAI12106,CAH18280,O60825,Q5VVQ3,AAH69350,Q68DE0,NP_006203,CAA06605,CAH70777,CAH70778,EAW93507,EAW93508,BAB19681,AAL99386,CAA06606,BAF85572 Hs.282702 GDB:127278 DKFZp781D2217|MGC138308|MGC138310|PFK-2/FBPase-2 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 protein-coding 735560 PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 1580863 15896703,8830046,16316985,18039179,17499765,17143338,16698023,16311927,16306349,16115917,15489334,15466858,12963966,12935880,12477932,12384552,11245987,11245921,10673355,10508479,10077634,10072580,9276680,9146922,9092801,17353931 5209 AB012229,AB033994,AF041831,AF110958,AL157395,AL359960,NM_004566,CH471072,AF056320,AF109735,AJ272438,AJ272439,AJ295747,AK131307,AK291263,AL583908,BC037258,BC040482,BC042656,D49817,L77662 NP_004557,BAA25289,BAA89351,AAB99795,AAD23989,CAH73604,CAH73605,CAH73606,CAH73607,CAH73609,CAH73610,CAH73611,CAH73613,CAH72161,CAH72162,CAH72163,CAH72164,CAH72165,CAH72166,EAW86397,EAW86398,EAW86399,EAW86400,EAW86401,AAC62000,AAD08818,CAC34792,CAC34793,CAC20460,BAD18473,BAF83952,AAH40482,BAA08624,AAL40083,O60352,Q16875,Q5VX15,Q5VX18,Q5VX19,Q5VX20,Q5W015,Q5W016,Q5W022,Q6ZNA2,Q9BQU2,Q9BQU3,Q9H178,Q9UBT0 Hs.195471 GDB:5772859 IPFK2|PFK2 protein-coding 1344643 PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 1580863 10095107,17143338,15925437,15642344,15489334,15474002,12477932,8830046 5210 NM_004567,AC134772,AY786551,CH471055,AF108765,AY707863,AY714243,AY756062,AY756063,AY756064,BC010269,D49818 NP_004558,AAV65753,EAW64890,AAD09427,AAU11326,AAU14998,AAV28717,AAV28718,AAV28719,AAH10269,BAA18921,Q16877,Q5S3G5,Q5XLC2,Q5XLC3,Q64EX5,Q66S35,ABM82561,ABM85751 Hs.476217 GDB:9848777 protein-coding 731398 PFKL phosphofructokinase, liver Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate. Separate genes encode a muscle subunit (M) and a liver subunit (L). PFK from muscle is a homotetramer of M subunits, PFK from liver is a homotetramer of L-subunits, while PFK from platelets can be composed of any tetrameric combination of M and L subunits. The protein encoded by this gene represents the L subunit. Two transcript variants encoding different isoforms have been found for this gene. 1580863,1300048 6444721,16780588,18254975,16713569,16189514,15592455,15489334,15231748,14702039,12840015,12665801,12477932,10830953,8931492,6455664,6445244,6227635,2948503,2944814,2533063,2139864,1565613,1446073,156693 5211 X16928,X16929,X16930,AB209127,AK054735,AK091488,AK098228,BC004920,BC006422,BC007536,BC008964,BC009919,BC018295,BG390460,BQ067366,BU177678,BX351711,BX537446,BX641051,CA449348,CB997055,CR591167,CR601159,CR605822,NM_002626,AP001060,AP001061,AP001062,AP001754,CH471079,X16911,X16912,X16913,X16914,X16915,X16916,X16917,X16918,X16919,X16920,X16921,X16922,X16923,X16924,X16925,X16926,X16927,NM_001002021,X15573 BAD92364,AAH04920,AAH06422,AAH07536,AAH08964,AAH09919,AAH18295,CAD97688,CAE46026,NP_001002021,NP_002617,BAA95561,EAX09439,EAX09440,CAB46744,P17858,Q59GI2,CAA33597,Q6MZK4,Q7L2M7,Q7Z3R9,Q9BSP4,ABM84361,ABM87791 Hs.255093 GDB:120276 DKFZp686G1648|DKFZp686L2097|FLJ30173|FLJ40909|PFK-B phosphofructokinase, liver, b-type protein-coding 68621 PFKM phosphofructokinase, muscle The PFKM gene encodes the muscle isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. Mammalian PFK is a tetramer made up of various combinations of 3 subunits: muscle (PFKM), liver (PFKL; MIM 171860), and platelet (PFKP; MIM 171840), the genes for which are located on chromosomes 12q13, 21q22, and 10p, respectively. The composition of the tetramers differs according to the tissue type. Muscle and liver PFK are a homotetramers of 4M and 4L subunits, respectively. Erythrocytes contain both L and M subunits, which randomly tetramerize to form M4, L4, and M3L, M2L2, and ML3 hybrid forms of the holoenzyme (Vora et al., 1980 [PubMed 6444721]; Raben and Sherman, 1995 [PubMed 7550225]).[supplied by OMIM] 1599108,1580863,1300048 15020257,14760703,12477932,12432079,10187848,9443500,9389749,9252390,8889589,8661033,7825568,7550225,7513946,7479776,6459054,2822475,2526045,2526044,2140573,2140567,1833270,1825608,125160,6444721,12649290,8444874,17544406,15489334 1599108 5213 NM_000289,AC004801,AC074029,CH471111,M24925,M36003,M59719,M59720,M59721,M59722,M59723,M59724,M59725,M59726,M59727,M59728,M59729,M59730,M59731,M59732,M59733,M59734,M59735,M59736,M59737,M59738,M59739,M59740,M59741,AK126020,AK126229,BC000534,BC007798,BC012799,BC013298,BC021203,BX537703,CR541698,J05533,M26066,U24183,Y00698 NP_000280,EAW57973,EAW57974,EAW57975,AAA36436,AAA60069,AAA82938,BAC86498,AAH00534,AAH07798,AAH12799,AAH13298,AAH21203,CAD97816,CAG46499,AAA79220,AAA60068,AAA91985,CAA68692,P08237,P78457,Q6ZTT1,Q7KYX9,Q7Z683,Q96I60 Hs.75160 GDB:120277 GSD7|MGC8699|PFK-1|PFK-M|PFKX protein-coding 731015 PFKP phosphofructokinase, platelet The PFKP gene encodes the platelet isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. The PFKP gene, which maps to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM; MIM 610681) and liver (PFKL; MIM 171860) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22, respectively. Vora (1981) [PubMed 6451249] determined that full tetrameric phophofructokinase enzyme expressed in platelets can be composed of subunits P4, P3L, and P2L2.[supplied by OMIM] 1580863 1834056,17353931,6444721,17658951,17544406,16964243,15716112,15592455,15489334,15302935,14760703,14702039,12963966,12477932,12438565,8889548,156568,8117307,6451249,2822475,1533608,156693 5214 NM_002627,AL451164,AL731533,CH471072,AA622586,AK092597,AK097692,AK128373,AK129843,AK130767,AK291841,BC002536,BC021698,BC029138,BC043156,BU737488,CD365858,CR593800,CR598026,CR603216,CR621705,CR622143,CR624196,D21863,D25328,M64784 NP_002618,CAI39990,CAI39991,CAI39992,CAI39999,CAI40000,CAI40002,CAI40003,CAH69851,CAH69852,CAH69853,CAH69854,EAW86495,EAW86496,EAW86497,BAF84530,AAH02536,AAH21698,AAH29138,AAH43156,BAA21891,BAA04998,AAA36435,O14943,Q01813,Q49A78,Q5JRW2,Q5JRW4,Q5VSR5,Q5VSR6,Q5VSR7,Q5VSR8,Q8WTZ9,ABM86073,ABW03770 Hs.26010 GDB:119480 FLJ40226|PFK-C|PFKF protein-coding 1353203 PFKX phosphofructokinase, polypeptide X 5215 GDB:119481 733332 PFN1 profilin 1 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome. 1580863 18384219,18223293,17940506,17914456,17051635,16968742,16916647,16569658,16169070,15952740,15615774,15592455,15556561,1968707,16189514,3342873,15489334,15469846,14767055,14592989,12729790,12621583,12477932,12419186,12224553,12213210,12095630,12052260,11751973,10958683,10922060,10882740,10445846,10411937,10404225,9843499,9822597,9801792,9473484,9360613,8413665,8268157,7821789,7758455,3356709 5216 NM_005022,AC109333,CH471108,BC002475,BC006768,BC013439,BC015164,BC057828,BT007001,CR407670,CR593169,CR598873,CR612678,D28377,J03191 NP_005013,EAW90381,EAW90382,EAW90383,EAW90384,AAH02475,AAH06768,AAH13439,AAH15164,AAH57828,AAP35647,CAG28598,BAA05743,AAA36486,P07737,Q53Y44,ABM82026,ABM85208 Hs.494691 GDB:120278 profilin protein-coding 734176 PFN2 profilin 2 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. 1580863 7758455,7737110,3356709,1602151,16189514,15383276,16169070,17382517,15615774,15489334,14517206,12677009,12477932,12224553,11027290,10945997,10882740,10600384,9463375,8975700,8641130,8365484 5217 NM_002628,CR598653,AC117395,CH471052,AF228738,BC002964,BC018049,BC043646,NM_053024,BC095444,BX463350,CR591423,CR594372,CR596808,CR598518,CR598650,CR600596,CR601974,CR606080,CR609496,CR615830,CR618131,CR619503,CR621836,CR625431,CR626138,L10678,AL096719 NP_444252,NP_002619,EAW78850,EAW78851,EAW78852,EAW78853,EAW78854,EAW78855,EAW78856,AAG24949,AAH18049,AAH43646,AAH95444,AAA03022,P35080,Q4VBQ4,Q96EG4 Hs.91747 GDB:120279 D3S1319E|PFL protein-coding 1604471 PFN3 profilin 3 The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. 15372022,12477932,11867228 345456 NM_001029886,NG_007568,AC145098,CH471195,AA909745,BC132952,BC132954 NP_001025057,EAW85006,AAI32953,AAI32955,P60673 Hs.130196 protein-coding 1347216 PFN4 profilin family, member 4 1580863 15489334,12477932 375189 NM_199346,AC008073,CH471053,AK292601,BC029523,BC043236 NP_955378,AAY14666,EAX00760,EAX00761,BAF85290,AAH29523,Q53TL9,Q8NHR9 Hs.442718 protein-coding 1313632 PFTK1 PFTAIRE protein kinase 1 PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM] 1580863 16775625,17353931,17517622,9202329,17567994,15761153,12853948,12690205,12098780,11313143,10048485 5218 CR595517,DQ655962,DQ655963,DQ655965,DQ655966,DQ656060,NM_012395,AC000057,AC000059,AC002065,AC002458,AC006036,AC017036,AC084381,CH236949,CH471091,AA883846,AB020641,AF119833,AK289782,BC136477,BC152388,BC152436,BC167152,BC167156 O94921,AAI67156,NP_036527,AAS07411,AAM48566,AAS07412,AAF19245,EAL24162,EAW76872,EAW76873,EAW76874,BAA74857,AAG43234,BAF82471,AAI36478,AAI52389,AAI52437,AAI67152 Hs.430742 GDB:3750179 KIAA0834|PFTAIRE1 protein-coding 1314644 PFTK2 PFTAIRE protein kinase 2 1580863 17353931,16236519,15815621,15489334,14702039,12477932,12471243,11586298 65061 NM_139158,AC007242,AC007358,CH471063,AB053308,AK091710,AK131512,AK292434,BC038807,BX647394 NP_631897,AAX93182,AAX88914,EAW70295,EAW70296,EAW70297,BAB69017,BAD18656,BAF85123,AAH38807,Q96Q40 Hs.348711 GDB:11505615 ALS2CR7 protein-coding 1345189 PGA3 pepsinogen 3, group I (pepsinogen A) 1580863 15688378,14702039,9373149,8125298,6300126 643834 NM_001079807,AP000437,AK125628,AK225669,AK225674,AK225679,AL832946 NP_001073275,CAH56304,P00790,Q658W9 Hs.647247 GDB:119482 DKFZp666J2410 protein-coding 1606055 PGA4 pepsinogen 4, group I (pepsinogen A) 6300126,15489334,7663352,3197840,2714789,2515193,2415509 643847 NM_001079808,AP000437,AP003037,AK291864 NP_001073276,BAF84553,P00790,AAI52845 Hs.661883 GDB:119483 FLJ77962 protein-coding 1350538 PGA5 pepsinogen 5, group I (pepsinogen A) 1580863 15489334,14702039,12477932,9421118,6300126,3467902,3305135,3197840,3191614,3115885,2920466,2797342,2714789,2609705,2515193,2415509,9373149,8187358,8125298,7663352,1906854 5222 NM_014224,AP003037,CH471076,J00287,M26032,M27596,M27598,BC029055 NP_055039,EAW73928,AAA98529,AAA60061,AAA36432,AAA36431,AAH29055,O95576,O95577,P00790 Hs.432854 GDB:119484 protein-coding 1351408 PGA@ pepsinogen A gene cluster 5219 GDB:128742 737211 PGAM1 phosphoglycerate mutase 1 (brain) 1300048,1580863 2846554,16881065,15710582,15592455,15489334,15388943,14702039,12477932,9373149,9150946,9110174,8619474,8125298,6282177,2846553,2822696 5223 AL355490,CH471066,AK223096,AK292216,AK293023,AY007118,BC000455,NM_002629,BC010038,BC011678,BC053356,BC062302,BC066959,BC073742,BC157873,CR541659,CR541744,CR590098,CR591606,CR591607,CR592185,CR592499,CR594867,CR608546,CR608811,CR609033,CR609739,CR610451,CR610641,CR610924,CR611275,CR611305,CR611516,CR611819,CR612247,CR612302,CR612329,CR614156,CR614542,CR615624,CR615651,CR616167,CR616324,CR616452,CR616476,CR616975,CR618450,CR618982,CR619626,CR620365,CR620823,CR620897,CR621690,CR621854,CR622046,CR622446,CR623152,CR623531,CR626539,CR626703,J04173,CR595299,CR595637,CR597136,CR597323,CR597429,CR599026,CR599158,CR599243,CR599699,CR600574,CR601107,CR602044,CR602385,CR602431,CR602792,CR603116,CR603605,CR603876,CR604266,CR605010,CR606204,CR607783,CR608122,CR608338 NP_002620,CAI40778,EAW49937,EAW49938,EAW49939,EAW49940,EAW49941,EAW49942,EAW49943,EAW49944,BAD96816,BAF84905,BAF85712,AAG01990,AAH10038,AAH11678,AAH53356,AAH62302,AAH66959,AAH73742,AAI57874,CAG46460,CAG46544,AAH00455,AAA60071,P18669,Q0D2Q6,Q53G35,Q6FHK8,Q6FHU2,Q6P6D7,ABM83991,ABM87317 Hs.592599,Hs.632918 GDB:120530 PGAMA phosphoglycerate mutase 1 protein-coding 68971 PGAM2 phosphoglycerate mutase 2 (muscle) 1599129,1300048,1580863 6262916,12477932,10545043,8447317,2822696,2549058,2153628,2145198,16189514 1599129 5224 P15259 NM_000290,AC017116,CH236960,CH471128,J05073,M55673,M55674,BC001904,BC073741,CR618504,M18172 NP_000281,EAL23769,EAW61128,AAA60073,AAA64238,AAH01904,AAH73741,AAA60072,P15259 Hs.632642 GDB:120280 MGC88743|PGAMM phosphoglycerate mutase 2 protein-coding 1345764 PGAM3P phosphoglycerate mutase 3, pseudogene 11961099 170535 NG_001047,AL109837 GDB:11507400 dJ1128N12.1 pseudo 1604671 PGAM4 phosphoglycerate mutase family member 4 11961099,16916647,16201836,10737800,9370262 441531 U76194,Z94801,BG875904,DQ120647,NM_001029891,AF465731,AF465732,AF465733,AF465734,AF465735,AF465738,AF465739,AF465740,AF465741,AF465742,AF465743,AF465745,AL772330 ABB92432,CAB08163,O00228,Q5JPN2,Q8N0Y7,AAI48677,NP_001025062,AAM27282,AAM27283,AAM27284,AAM27285,AAM27286,AAM27289,AAM27290,AAM27291,AAM27292,AAM27293,AAM27294,AAM27296,CAI42111 Hs.632822 PGAM-B|PGAM3|dJ1000K24.1 protein-coding 1604217 PGAM5 phosphoglycerate mutase family member 5 17046835,16169070,15324660,14702039,12477932,11283018 192111 NM_138575,XM_001713960,AC135586,CH471218,AF357523,AK097688,BC008196,BC047906,EU249757 NP_612642,XP_001714012,EAW54825,EAW54826,EAW54827,AAK60627,AAH08196,ABX39494,Q96HS1 Hs.102558 BXLBv68|MGC5352 protein-coding 1605037 PGAP1 post-GPI attachment to proteins 1 PGAP1 catalyzes the inositol deacylation of glycosylphosphatidylinositol (GPI) at an early step in GPI biosynthesis. Inositol deacylation is essential for the generation of mature GPI capable of attachment to proteins (Tanaka et al., 2004 [PubMed 14734546]).[supplied by OMIM] 1846368,17711852,15815621,15489334,14734546,14702039,12975309,12477932 80055 AB128038,AK001646,AK022439,AK124764,AL050078,AY358624,BC040517,BX648642,NM_024989,AC012486,AC017035 AAY15059,BAD13427,BAB14035,AAQ88987,AAH40517,CAH10543,Q75T13,AAI52720,NP_079265,AAX88854 Hs.229988 Bst1|FLJ42774|ISPD3024 protein-coding 1352422 PGBD1 piggyBac transposable element derived 1 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. 12477932,9373149,8889548 84547 NM_032507,AL021997,CH471081,AK223446,AK291228,BC019876,BC032507,BC040117,BC069033,BC128585,BQ185356,D88259 NP_115896,CAD21704,EAX03151,BAD97166,BAF83917,AAH69033,AAI28586,BAB46919,Q96JS3 Hs.144527 GDB:11510852 HUCEP-4|SCAND4|dJ874C20.4 protein-coding 1312360 PGBD2 piggyBac transposable element derived 2 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. 12477932,11247672 267002 NM_170725,NM_001017434,AF229602,AL672183,CH471257,AI038307,AK123219,BC063785,BX647065,CR623168 NP_733843,NP_001017434,EAW57543,EAW57544,EAW57545,AAH63785,CAE46192,Q6P3X8 Hs.602037 GDB:11510854 protein-coding 1345759 PGBD3 piggyBac transposable element derived 3 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene overlaps with the ERCC6 gene on chromosome 10, and pseudogenes of this locus have been found on chromosomes 4, 5 and 12. 12477932 267004 CQ783578,AK074682,AK291018,AL133084,BC028954,BC034479,BC063690,BG121679,NM_170753,AL138760,CH471187 EAW93095,CAF86746,BAF83707,CAB61402,AAH28954,AAH34479,AAH63690,Q8N328,Q9UIW3,NP_736609,CAH70290 Hs.654449 GDB:11510856 FLJ90201 protein-coding 1342943 PGBD3P1 piggyBac transposable element derived 3 pseudogene 1 267005 NG_002400,AC090017 GDB:11510858 pseudo 1345542 PGBD3P2 piggyBac transposable element derived 3 pseudogene 2 267006 NG_002401,AC010374 GDB:11510860 pseudo 1352420 PGBD3P3 piggyBac transposable element derived 3 pseudogene 3 267007 NG_002402,AC006065 GDB:11510862 pseudo 1343105 PGBD3P4 piggyBac transposable element derived 3 pseudogene 4 9847074 267008 NG_002403,AC114774 GDB:11510864 pseudo 1349164 PGBD4 piggyBac transposable element derived 4 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. 14702039,12477932 161779 NM_152595,AC079203,CH471125,AK057200,AK094816,AK289491,BC130441 NP_689808,EAW92287,BAB71379,BAC04428,BAF82180,AAI30442,Q96DM1 Hs.156317 GDB:11510866 FLJ32638|FLJ37497 protein-coding 1321950 PGBD5 piggyBac transposable element derived 5 The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. 14702039,12955498,12477932 79605 NM_024554,AL691479,CH471098,AK021475,AL833243,BC013901,BC027466,BC036865,CR597281 NP_078830,CAI13996,EAW69912,BAB13832,AAH13901,AAH27466,AAH36865,Q8N414,Q9HAL2 Hs.520463 GDB:11510868 DKFZp761A0620|FLJ11413 protein-coding 735292 PGC progastricsin (pepsinogen C) 1580863 3335549,18447628,17288837,16937501,15688378,15503827,15489334,15200883,14574404,12759353,12698190,12508350,12477932,12128264,9794784,9421118,9406551,9373149,9267315,8876968,8322031,8125298,7714902,6816595,3305135,2909526,2567697,2515193,1906854,1280267 5225 AL365205,CH471081,M18659,M18660,M18661,M18662,M18663,M18664,M18665,M18666,M18667,M23077,AK223274,BC042578,BC073740,J04443,NM_002630,U75272 Q8IUM8,Q53FL0,CAI13181,CAI95135,EAX04059,AAA60062,AAA60063,AAH42578,AAH73740,AAA60074,NP_002621,AAB18273,P20142 Hs.1867 GDB:119485 progastricsin protein-coding 736012 PGCP plasma glutamate carboxypeptidase 10206990,16303743,15206943,12591738,12477932 10404 NM_016134,AC010859,AP003111,AP003112,AP003117,AP003477,CH471060,AF107833,AF107834,AF119386,AK075132,BC012019,BC020689,CR599327 NP_057218,EAW91757,EAW91758,AAD43213,AAD43214,AAD31418,BAC11423,AAH20689,Q9Y646,ABM84103,ABM87758 Hs.156178 GDB:9956889 protein-coding 1343939 PGD phosphogluconate dehydrogenase 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. 1599574,1580863,1625539 15231747,3858849,12498092,12477932,9920387,8978909,4517931,3932573,3864603,2283141 1599574,1625539 5226 P52209,Q4VXH6 AL139424,CH471130,BC000368,CD700605,CR604306,CR607764,CR608757,CR609478,CR610062,CR610133,CR610891,U30255,NM_002631 NP_002622,CAI95751,EAW71647,EAW71648,AAH00368,AAA75302,P52209,Q4VXH6 Hs.464071 GDB:119486 6PGD 2289516,2289613 BW442_H,BW396_H protein-coding 1344429 PGDL1 phosphogluconate dehydrogenase-like 1 5227 GDB:120281 732845 PGDS prostaglandin D2 synthase, hematopoietic Prostaglandin-D synthase is a sigma class glutathione-S-transferase family member. The enzyme catalyzes the conversion of PGH2 to PGD2 and plays a role in the production of prostanoids in the immune system and mast cells. The presence of this enzyme can be used to identify the differentiation stage of human megakaryocytes. 68838,1300048 9353279,10781097,15489334,15113825,12895599,12707014,12627223,12477932,12002745,11672424,11068878,10998423,10824118,9475419,9425264,9323136 68838 27306 AB008830,AC096746,AC109925,AC110297,CH471057,AK290075,BC020734,CB988786,CR541662,CR541679,CR619711,CR622166,D82073,NM_014485 NP_055300,BAA96854,AAY40905,EAX06052,BAF82764,AAH20734,CAG46463,CAG46480,BAA25545,O60760,Q4W5C6,Q6FHT9 Hs.128433 protein-coding 1347328 PGF placental growth factor 1580860,1580863,1642385,1642386,1642387,1642388,1642390,1642394,1642383,1642384 17157858,16864484,16843105,16839256,16635470,16146532,16005848,15886253,15710418,15516835,15489334,15272021,15126502,14741347,14684734,14645176,14568677,14568550,13678785,12824270,12808329,12796773,12714517,12673673,12618519,12548214,12548207,9467961,18306920,18293205,18175241,18079407,18006829,17982238,17956952,17704140,17696935,17187248,12543719,12508121,12477932,12453985,12393422,12091880,12086892,11986311,11811792,11810642,11297624,11069911,11000388,10919072,10783260,10748121,9452434,9207183,9116151,9111514,8786112,8148155,7929268,7681160,1924389,16189514 1580860,1642385,1642386,1642387,1642388,1642390,1642394,1642383,1642384 5228 AC006530,NM_002632,CH471061,EU332861,S57152,BC001422,BC007255,BC007789,BT007182,BX248289,CR592863,CR593434,CR593571,CR598213,CR604743,CR611071,CR611238,CR612112,CR620888,CR621337,CR625775,CR626064,S72960,X54936,A18411 NP_002623,AAD30179,EAW81207,EAW81208,EAW81209,ABY87550,AAB25832,AAH01422,AAH07255,AAH07789,AAP35846,CAD62617,AAB30462,CAA38698,P49763,Q53XY6,Q86TW6,CAA01393,ABM83062,ABM86256 Hs.252820 GDB:134676 D12S1900|PGFL|PLGF|PlGF-2|SHGC-10760 placental growth factor, vascular endothelial growth factor-related protein protein-coding 1349691 PGFL placental growth factor-like 23611 GDB:10795323 734288 PGGT1B protein geranylgeranyltransferase type I, beta subunit 729477,1580863,1300048 8106351,16344560,15451670,14598891,12477932,11076863,7713879,1400319 729477 5229 NM_005023,AC008494,CH471086,AL520655,AW382606,AY780790,CR591401,DA024020 AAI11925,AAI18497,NP_005014,EAW48968,EAW48969,AAV98360,P53609 Hs.254006 GDB:305477 BGGI|GGTI geranylgeranyltransferase type i (ggtase-i) protein-coding 1353723 PGK1 phosphoglycerate kinase 1 The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. A pseudogene of this gene has been found on the X-chromosome and another on chromosome 19. 1580863,1599120,1599123 18288812,18096512,18039033,17661373,17565005,17081983,16363799,16236267,15952740,15592455,15489334,15255553,15053920,14764427,14733918,12869554,12488440,12477932,12174867,12080078,11745195,9744480,9075577,9023984,8889548,8673469,8615693,8089148,8075252,8043870,7892275,7440217,7391028,7391027,6941312,6933565,6188151,6099325,3453121,2995995,2814502,2347494,2324090,2001457,1837552,1602151,1586722,1547346,1533225 1599120,1599123 5230 CR606423,CR607408,CR609470,CR610216,CR611469,CR606362,CR611546,CR611724,CR611898,CR612230,CR613425,CR614274,CR614584,CR615535,CR615930,CR616721,CR616934,CR617423,CR617618,CR617883,CR619469,CR619774,CR620229,CR620885,CR621547,CR621652,CR621871,CR622033,CR622489,CR622579,CR622615,CR623053,CR623282,CR623513,CR623619,CR624213,CR624591,CR625638,D28371,DC336483,L00160,V00572,NM_000291,AL049589,CH471104,CS037197,L00159,M11968,M34017,AB062432,AK291081,AY423725,BC023234,BC103752,BC104837,BC113568,BU677171,CR456716,CR590085,CR590364,CR590879,CR591158,CR593737,CR595690,CR596685,CR596706,CR597247,CR598309,CR601290,CR601327,CR601871,CR604126 BAA05737,CAA23835,P00558,NP_000282,CAI42951,EAW98602,EAW98603,EAW98604,CAI63840,AAA60078,AAA60079,AAA60103,BAB93495,BAF83770,AAS00488,AAH23234,AAI03753,AAI04838,AAI13569,CAG32997 Hs.78771 GDB:120282 MGC117307|MGC142128|MGC8947|MIG10|PGKA protein-coding 1351767 PGK1P1 phosphoglycerate kinase 1, pseudogene 1 2987238,1840656,1549504 5231 K03201,X56251,NG_001170,AL158201 GDB:120283 pseudo 1343838 PGK1P2 phosphoglycerate kinase 1, pseudogene 2 3502690,3016919,2995234 5233 NG_001528,AC010422 GDB:120284 PGK2 pseudo 1315351 PGK2 phosphoglycerate kinase 2 The PGK2 gene encodes a testis-specific form of phosphoglycerate kinase (EC 2.7.2.3), which catalyzes the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate during glycolysis, generating one molecule of ATP. See also PGK1 (MIM 311800), which is ubiquitously expressed in all somatic tissues and maps to chromosome Xq13.[supplied by OMIM] 1580863 3453121,15489334,14574404,12477932,10330089,9023984,6873461,6328504,3839763,2987238,2886978,2032717 5232 NM_138733,AL121974,K03019,X05246,BC038843 NP_620061,CAC19655,CAA28872,AAH38843,P07205 Hs.367727 GDB:119488 PGK-2|PGKB|PGKPS|dJ417L20.2 protein-coding 1351013 PGL2 paraganglioma or familial glomus tumors 2 7814027 5235 GDB:511177 1315936 PGLS 6-phosphogluconolactonase 1580863 10518023,16189514,15489334,12477932,11457850 25796 NM_012088,AC010618,CH471106,AF091091,AJ243972,BC014006,BC017706,BG764228 NP_036220,EAW84613,EAW84614,AAC72960,CAB57866,AAH14006,O95336,ABM84388,ABM87321 Hs.466165 GDB:10795920 6PGL protein-coding 1351704 PGLYRP1 peptidoglycan recognition protein 1 1580863 15140887,15057824,14585845,14506276,12975309,12669421,12477932,9707603,11461926,15956276,15769462,15572450,15489334 8993 NM_005091,AC007785,CH471126,AF076483,AF242517,AY358936,BC096154,BC096155,BC096156,BC096157,BC101845,BC101847 NP_005082,AAD38243,EAW57400,AAC31822,AAF99598,AAQ89295,AAH96154,AAH96155,AAH96156,AAH96157,AAI01846,AAI01848,O75594 Hs.137583 MGC126894|MGC126896|PGLYRP|PGRP|PGRP-S|PGRPS|TAG7|TNFSF3L protein-coding 1346354 PGLYRP2 peptidoglycan recognition protein 2 Peptidoglycan recognition proteins, such as PGRPL, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM] 7663175,11461926,16714290,16344560,16335952,16239516,16054449,15340161,15340057,15221005,14702039,14506276,12975309,12754519,12669421,11752456,11441184 114770 BC136552,DB041324,NM_052890,AC011492,CH471106,AB073610,AF384856,AK055882,AK289415,AK292292,AY358156,BC136551 AAI36553,Q68CK1,Q96PD5,NP_443122,EAW84482,EAW84483,BAD38647,AAL05629,BAB71034,BAF82104,BAF84981,AAQ88523,AAI36552 Hs.282244 HMFT0141|PGLYRPL|PGRP-L|PGRPL|TAGL-like|tagL|tagL-alpha|tagl-beta protein-coding 1312063 PGLYRP3 peptidoglycan recognition protein 3 Peptidoglycan recognition proteins, such as PGRPI-alpha, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM] 1580863 11461926,16362825,16354652,15489334,15140887,12477932 114771 NM_052891,AL161636,AL591704,CH471121,AY035376,BC069741,BC069798,BC069801,BC128114,BC128115 NP_443123,CAI19556,CAI19491,EAW53338,AAK72484,AAH69741,AAH69798,AAH69801,AAI28115,AAI28116,Q96LB9 Hs.348266 MGC149197|PGRP-Ialpha|PGRPIA protein-coding 1318338 PGLYRP4 peptidoglycan recognition protein 4 Peptidoglycan recognition proteins, such as PGRPI-beta, are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls.[supplied by OMIM] 1580863 11461926,16362825,16354652,15489334,12477932 57115 NM_020393,AL591704,CH471121,AF086392,AF242518,AK292203,AY035377,BC107157,BC107158,BC142636,CA487280 NP_065126,CAI19492,CAI19493,EAW53335,EAW53336,EAW53337,AAF99599,BAF84892,AAK72485,AAI07158,AAI07159,AAI42637,Q3B822,Q5SY63,Q5SY64,Q96LB8 Hs.58356 PGLYRPIbeta|PGRP-Ibeta|PGRPIB|SBBI67 protein-coding 734179 PGM1 phosphoglucomutase 1 1580863,1300048 12942785,1530890,18091362,16710414,15522220,15489334,15378030,12477932,10441333,8894274,8631316,8586438,8257433,7902568,7902567,4517931,3159642,1602151,16189514 5236 BC067763,BC090856,BT006961,CR594585,M83088,NM_002633,AJ243265,AL109925,CH471059,S67989,S67998,BC001756,BC019920 AAH19920,AAH67763,AAH90856,AAP35607,AAA60080,P36871,Q16106,Q9H1D2,ABM92235,ABM84712,NP_002624,CAC19809,CAB92085,CAB92086,EAX06559,EAX06560,AAB29177,AAB29178,AAH01756 Hs.1869 GDB:119489 protein-coding 1314459 PGM2 phosphoglucomutase 2 17804405,15489334,14702039,12665801,12477932,11230166,9549096,9373149,8125298,5885461,1203483,1192820,885546,752512,752511,564278 55276 NM_018290,AC021106,AC108022,CH471069,AF109360,AK001845,AK223237,AL136705,BC010087,CR457274,CR599913 NP_060760,AAY41017,EAW92886,AAQ13508,BAA91938,BAD96957,CAB66640,AAH10087,CAG33555,Q4W5D6,Q96G03 Hs.23363 GDB:119490 FLJ10983|MSTP006 protein-coding 1316099 PGM2L1 phosphoglucomutase 2-like 1 737633 17804405,17081983,15489334,14702039,12477932,12107410 737633 283209 NM_173582,AP001085,CH471076,AB019210,AK056591,AK090777,AL134388,BC059360,BF038662,BX479504,CA391097,CA418308,CR606675 NP_775853,EAW74937,BAA82756,BAB71227,AAH59360,Q6PCE3 Hs.26612 BM32A|FLJ32029 protein-coding 1603410 PGM3 phosphoglucomutase 3 1625539 11004509,14702039,12477932,12174217,10721701,9373149,6461922,508567,468082,203189 1625539 5238 O95394 NM_015599,AL049699,AL121716,CH471051,AB032081,AF102265,AF180371,AK001365,AK023432,AK023709,AK225363,AL117443,BC001258 NP_056414,CAI22635,CAI42427,EAW48667,EAW48668,EAW48669,EAW48670,EAW48671,BAB00613,AAC72409,AAD55097,BAB14652,CAB55928,AAH01258,O95394 Hs.654985 GDB:119491 AGM1|DKFZp434B187|PAGM protein-coding 1346061 PGM5 phosphoglucomutase 5 Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM] 1580863 8631316,8175905,10867799,12477932,9342213,8586438,7890770,7589238 5239 NM_021965,AL161457,AL353608,AL353616,CH471089,L40933,AA709405,AI078570,AI374906,AL137698,AL710966,BC033073 NP_068800,CAI41169,CAI41170,CAO03528,EAW62460,AAC41948,AAH33073,Q15124 Hs.307835 GDB:625369 PGMRP protein-coding 1604857 PGM5P1 phosphoglucomutase 5 pseudogene 1 15489334,15233989,15164053,14702039,12421752,9342213,8631316,8586438 653394 NG_005636,AL591385,X90859,Y13478,AK096159 CAA73882,A6NIQ7,Q5VTQ8 Hs.650460 pseudo 1601896 PGM5P2 phosphoglucomutase 5 pseudogene 2 15233989,12477932,12421752 595135 NR_002836,AL353763,BX255923,BC007887,BC025351 Hs.571593 pseudo 1351096 PGP phosphoglycolate phosphatase 5240 GDB:119492 1348411 PGPEP1 pyroglutamyl-peptidase I Pyroglutamyl peptidase I (EC 3.4.19.3) catalyzes the hydrolysis of N-terminal pyroglutamyl residues from oligopeptides and proteins.[supplied by OMIM] 1580863 16344560,15380924,15014037,14702039,12651114,12477932,12030812,2575716 54858 NM_017712,AC008397,CH471106,AJ278828,AK000215,AK025948,AK289968,BC004942,BC028063,BC042138,DA315740 NP_060182,EAW84690,EAW84691,EAW84692,CAC03610,BAA91015,BAF82657,AAH04942,AAH28063,AAH42138,Q05C87,Q8IVT1,Q9NXJ5 Hs.131776 GDB:11508630 FLJ20208|MGC10812|PGP|PGP-I|PGPI|Pcp protein-coding 731081 PGR progesterone receptor This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce two isoforms, A and B. The two isoforms are identical except for the additional 165 amino acids found in the N-terminus of isoform A only, and mediate their own response genes and physiologic effects with little overlap. The location of transcription initiation for isoform B has not been clearly determined. 1601278,1580863,1601277,1642050,2289659 17950525,17919323,17914494,17885486,17847935,17845055,17805208,17785366,17717077,17646097,17609999,17609436,17599361,17522428,17512111,17484509,17413977,17347654,17316413,17293450,17277083,17259978,17224149,17021053,17018785,17006756,16999816,16985250,16973758,16920727,16901007,16799708,16772530,16762974,16759928,16647340,16646051,16614108,16537702,16524927,16478993,16477637,16439457,16384861,16360811,16339776,16339279,16331541,16323958,16244490,16168103,12917342,10840043,1557371,18483761,18392676,18386458,18384825,18316616,18313072,18281038,18276950,18219286,18215457,18197009,18189290,18184269,18096667,18048499,18042733,17965625,17958742,15001645,14978266,14769635,14764828,14684847,14667967,14667966,14634838,14617569,14586360,14557830,14551264,14519645,14500352,12943706,12899921,12861133,12771131,12759236,12748280,12699057,12673676,12672823,12650698,12644308,12612073,12594000,12579263,12556966,12554776,12554765,12538866,12529333,12517594,12466272,12446585,12414909,12402980,12297552,12218173,12174912,12149147,12114521,12113882,12101239,12090595,12088866,12048256,12039952,12038703,12021930,12021276,12011095,12010857,12009358,11948021,11918216,11821088,11717311,11677150,11668524,11668223,11545730,11326686,11323389,11117529,11117526,11110801,10819762,10757795,10750018,10684807,10480874,10338464,9891052,9671457,9620806,9598870,9305541,9115274,8671234,8626413,7989520,7983041,7481822,6849751,3551956,2736623,2328727,11689696,12874288,15019994,9223281,16126772,15996107,15937332,15866121,15863956,15807882,15798179,15797250,15743833,15728178,15718480,15698546,15694360,15694343,15654614,15632380,15613410,15607534,15601848,15598772,15579801,15572421,15563544,15562029,15555905,15535845,15509639,15381922,15330195,15282324,15272917,15272913,15219637,15184270,15171716,15102680,15084345,15084343,15036714 1601278,1601277,1642050,2289659 5241 NM_000926,AP001533,AY525610,CH471065,DQ234979,AB084248,AB085683,AB085843,AB085844,AB085845,AF016381,AY212933,AY382151,AY382152,M15716,X51730 Q8NG44,Q8NG45,Q8TDS3,AAI52915,NP_000917,AAS00096,EAW66997,EAW66998,EAW66999,EAW67000,EAW67001,EAW67002,ABB72139,BAB91074,BAC06585,BAC11011,BAC11012,BAC11013,AAD01587,AAO61671,AAQ96833,AAQ96834,AAA60081,CAA36018,P06401,Q6TZ07,Q6TZ08,Q8NG42,Q8NG43 Hs.32405 GDB:119493 NR3C3|PR protein-coding 733484 PGRMC1 progesterone receptor membrane component 1 Progesterone binding protein is a putative steroid membrane receptor. The protein is expressed predominantly in the liver and kidney. 1580863 17353931,9705155,12493773,17276356,17081983,16565220,16234411,15970648,15782218,15702432,15489334,15302935,14523988,12477932,11697142 10857 CR625651,CR626493,Y12711,CR619956,CR623275,CH471161,DQ496104,BC034238,CR456993,CR592834,CR600631,CR601548,CR603332,CR603656,CR604189,CR604895,CR604927,CR605672,CR607500,CR607904,CR608128,CR616034,AJ249131,NM_006667,AC004835 CAA73248,O00264,Q6IB11,ABM82700,ABM85884,CAB65109,EAW89879,EAW89880,EAW89881,EAW89882,ABF47093,AAH34238,CAG33274,NP_006658 Hs.90061 GDB:9958413 HPR6.6|MPR protein-coding 1318787 PGRMC2 progesterone receptor membrane component 2 1580863 9705155,17081983,15702432,15489334,14702039,12477932 10424 NM_006320,AC096898,CH471056,DQ496105,AJ002030,AK091741,AK094949,AK131272,BC016692,BC092478,CR596011,CR602377,CR603076,CR605848,CR608683,CR615672 NP_006311,EAX05178,EAX05179,EAX05180,EAX05181,EAX05182,ABF47094,CAA05152,BAC03737,AAH16692,AAH92478,O15173,Q8NB07,ABM84119,ABM84120,ABM84620,ABM87519,ABM87520,ABM87521,ABM87865 Hs.507910 GDB:9956967 DG6|PMBP protein-coding 1347680 PGS Pettigrew X-linked mental retardation syndrome 1605216 5242 GDB:128372 1606322 PGS1 phosphatidylglycerophosphate synthase 1 11256614,12477932,9880566,9373149,8125298,1538749 9489 NM_024419,AC061992,CH471099,AK024529,AK225030,AL359590,BC008903,BC015570,BC025951,BC035662,BC108732,CR594011,CR749720 NP_077733,EAW89524,EAW89525,BAB14921,CAB94876,AAH08903,AAH15570,AAH25951,AAH35662,AAI08733,CAH18487,Q32NB8,ABM83739,ABM87058 Hs.654671 DKFZP762M186|MGC131960 protein-coding 1607023 PH-4 hypoxia-inducible factor prolyl 4-hydroxylase The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. 17726031,16154531,15489334,15456751,14702039,12788921,12477932,12163023 54681 NM_177939,AC137630,CH471055,AI079878,AK000269,AL713728,AW072069,AY198406,BC000580,NM_177938,BC011710,BC018731,BC047566,BC060321 NP_808807,NP_808808,EAW64934,EAW64935,EAW64936,EAW64937,EAW64938,EAW64939,EAW64940,BAA91045,CAD28518,AAO43431,AAH00580,AAH11710,AAH18731,AAH47566,AAH60321,Q9NXG6 Hs.654944 P4H-TM protein-coding 1353173 PHACTR1 phosphatase and actin regulator 1 1303990,1580863 15489334,15107502,14702039,14574404,12477932,11214970 1303990 221692 NM_030948,AL008729,AL354680,AL391385,AL391837,AL591682,CH471087,Z99495,AB051520,AK090769,AK290017,BC047159,BC101526,BC101528,BQ434462,BF026507 NP_112210,CAI95667,CAI95668,CAI95669,CAI95670,CAI95671,CAI95672,CAI41066,CAI41067,CAI41202,CAI40399,CAI40400,EAW55320,EAW55321,CAI20986,BAB21824,BAF82706,AAI01527,AAI01529,Q4VY15,Q9C0D0 Hs.436996 KIAA1733|MGC126575|MGC126577|RPEL|RPEL1|dJ257A7.2 protein-coding 1344472 PHACTR2 phosphatase and actin regulator 2 1303990,1580863 17113583,17081983,15146197,15107502,12477932,9734811 1303990 9749 NM_001100166,NM_001100164,NM_001100165,AL049844,AL078593,AL357117,AL360228,CH471051,AB014580,BC152416,CN361694,CR749345,NM_014721,DC361499,DC381966,DN993504,DR004592,DR980875 NP_055536,NP_001093636,NP_001093634,NP_001093635,CAI21446,CAI19811,CAI19812,CAI19813,CAI19814,CAI14132,CAI14133,CAI14154,CAI14155,EAW47861,EAW47862,EAW47863,BAA31655,AAI52417,CAH18198,O75167,Q5T3J5,Q5T4W4,Q5TFA0 Hs.654921 C6orf56|DKFZp686F18175|KIAA0680|MGC176642 protein-coding 1605886 PHACTR3 phosphatase and actin regulator 3 The protein encoded by this gene is associated with the nuclear scaffold in proliferating cells. It was found to bind to the catalytic subunit of protein phosphatase-1 (PP1) and inhibit PP1 activity, suggesting that this protein may function as a regulatory subunit of PP1. Alternative splicing at this locus results in several transcript variants encoding different isoforms. 16974080,15489334,15231748,15107502,14702039,12925532,12477932,11780052 116154 NM_080672,NM_183244,NM_183246,AL121908,AL357503,CH471077,AB098521,AB098522,AJ311122,AJ617581,AK090812,AK091632,AK098788,BC036834,BC108303,BC117362,BC117364 NP_542403,NP_899067,NP_899069,CAI23227,CAI23228,CAI23229,CAM28339,CAM28340,EAW75428,EAW75429,EAW75430,BAC82348,BAC82349,CAC67489,CAF04087,AAI08304,AAI17363,AAI17365,Q5T4T4,Q5T4T5,Q96KR7 Hs.473218 C20orf101|H17739|MGC117178|SCAPIN1|SCAPININ protein-coding 1351091 PHACTR4 phosphatase and actin regulator 4 This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. 1303990 16344560,15302935,15107502,14702039,12925532,12477932,11483580 1303990 65979 NM_001048183,NM_023923,AL670471,AL840643,CH471059,CR391992,CR589951,CR848752,AA973468,AF130081,AK023233,AK024663,AK025436,AL705720,BC016152,BC021247,BC029266,BC068508,CR749449,DA586663 NP_001041648,NP_076412,CAM12870,CAH73869,CAM12873,EAX07696,EAX07697,EAX07698,AAG35507,BAB14483,BAB15130,AAH16152,AAH21247,AAH29266,AAH68508,CAH18286,Q8IZ21,Q96B22 Hs.225641 DKFZp686L07205|FLJ13171|MGC20618|MGC34186|RP11-442N24__A.1 protein-coding 736948 PHB prohibitin Prohibitin is an evolutionarily conserved gene that is ubiquitously expressed. It is thought to be a negative regulator of cell proliferation and may be a tumor suppressor. Mutations in PHB have been linked to sporadic breast cancer. Prohibitin is expressed as two transcripts with varying lengths of 3' untranslated region. The longer transcript is present at higher levels in proliferating tissues and cells, suggesting that this longer 3' untranslated region may function as a trans-acting regulatory RNA. 1580863,2292398,2292409,2292405,2292382,2292403,2292404,2292408,2292406,2292396,2292410,2292402,2292407 11302691,14500729,12566959,12466959,16130169,15274632,18397521,18258228,18183577,18086671,17873902,17544200,17284347,17081983,17043753,17004108,16964284,16951178,16918502,16705168,16426920,16381901,16294014,16236267,16041367,15823758,15614618,15489336,15489334,15378209,15250827,15141164,14637159,14500355,12821355,12628297,12477932,12354477,12085232,12065415,11790298,11377649,11076863,10523633,10376528,9629920,9373149,8706794,8612677,8591812,8244394,8125298,7843414,7607556,1684951,1602151,1540973,16189514,11517187 2292398,2292409,2292405,2292382,2292403,2292404,2292408,2292406,2292396,2292410,2292402,2292407 5245 NM_002634,AC091180,CH471109,L14272,U17179,U49725,AK223181,AK290766,AY577780,BC013401,BC095460,BT007411,CR541706,CR590263,CR591049,CR599633,CR599787,CR600801,CR601626,CR617750,CR618484,CR619581,CR619685,CR621290,CR626185,CR626557,S85655 NP_002625,EAW94680,EAW94681,AAO18340,AAA86691,BAD96901,BAF83455,AAS88903,AAH13401,AAH95460,AAP36079,CAG46507,AAB21614,P35232,Q0JSL8,Q13022,Q53FV0,Q6FHP5,Q6PUJ7,CAL38496 Hs.514303 GDB:126600 PHB1 protein-coding 1604641 PHB2 prohibitin 2 10359819,11302691,18086671,17785450,17656096,17008324,16541075,15592455,15489334,15231747,15140878,12943695,12477932,10938099,10931946,9259555,9074930,8723724,16189514,17353931,14743216 11331 CH471116,U47924,AF126021,AF150962,AF178980,AF279895,BC013228,BC014766,BC110322,CR593466,CR593674,CR595625,CR602122,CR603221,NM_007273,CR604561,CR612358,CR613611,CR617504,CR618054,CR620594,CR620908,CR624331,CR625390,U72511 NP_009204,EAW88699,AAB51324,AAF17231,AAD38042,AAF44345,AAK07552,AAH14766,AAI10323,AAC51639,Q99623,Q9BXV3,ABM82734,ABW03427 Hs.504620 BAP|BCAP37|Bap37|MGC117268|PNAS-141|REA|p22 protein-coding 1344857 PHBP1 prohibitin pseudogene 1 8244394 5246 L14273,NG_001171,AL355497 GDB:230336 pseudo 1343040 PHBP2 prohibitin pseudogene 2 8244394 5247 GDB:230338 1351735 PHBP3 prohibitin pseudogene 3 8244394 5248 GDB:230340 1349226 PHBP4 prohibitin pseudogene 4 8244394 5249 GDB:230343 1319414 PHC1 polyhomeotic homolog 1 (Drosophila) This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. 1580863 12183370,9009205,14973489,15563468,10653359,9121482,15489334,15386022,15146197,12477932,12167701,10902910,9199346,16189514 1911 NM_004426,AB018192,AB018193,AC006581,CH471116,AB209063,BC002871,BC017748,BC073964,BC157850,BM473731,BX640639,CN388283,CN388285,CN388316,U89277 NP_004417,BAA83727,EAW88600,EAW88601,BAD92300,AAH02871,AAH17748,AAH73964,AAI57851,CAE45787,AAC51169,P78364,Q59GP6,Q6GMQ3,Q6N083,Q9UQ30 Hs.305985 GDB:7016778 EDR1|HPH1|RAE28 protein-coding 1317380 PHC2 polyhomeotic homolog 2 (Drosophila) In Drosophila melanogaster, the 'Polycomb' group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein 'polyhomeotic' (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16169070,9121482,16710414,16189514,15489334,15386022,15302935,15094067,14702039,12477932,12384788,12167701,10976766,9199346,15563468 1912 NM_004427,AL513327,CH471059,AJ242730,AJ419231,AK056429,AK128821,AK292905,BC015450,BC018602,BC028396,BC029269,BC068573,BC092492,BC110863,NM_198040,BC130630,CA949539,CD109667,CR597056,CR606655,CR608099,CR615775,U89278 NP_932157,NP_004418,CAI13955,CAI13956,CAI13957,EAX07457,EAX07458,EAX07459,EAX07460,EAX07461,EAX07462,CAB44779,CAD11673,BAC87622,BAF85594,AAH15450,AAH28396,AAH29269,AAH68573,AAH92492,AAI10864,AAI30631,AAC51170,P78365,Q8IXK0 Hs.524271 GDB:7016779 EDR2|HPH2|MGC163502|PH2 polyhomeotic-like 2 (drosophila) protein-coding 1317513 PHC3 polyhomeotic homolog 3 (Drosophila) 1580863 17081983,17001316,16565220,15489334,15342556,15302935,14702039,12477932,12384788,12167701 80012 BP200133,BX647868,EF560717,NM_024947,AC008040,AC023891,CH471052,BC131773,AF380154,AF444193,AI042019,AJ320486,AK022791,AK023029,BC022325,BC026001,BC070164,BC112944,BC131772 CAI46090,ABQ59027,Q8NDX5,NP_079223,EAW78516,EAW78517,EAW78518,EAW78519,EAW78520,EAW78521,EAW78522,EAW78523,AAM46139,AAM51781,CAC86587,BAB14245,BAB14365,AAH22325,AAH70164,AAI31773 Hs.529592,Hs.694467 GDB:11510750 DKFZp313K1221|EDR3|FLJ12729|FLJ12967|HPH3|MGC88144 polyhomeotic like 3 (drosophila) protein-coding 1346570 PHCA phytoceramidase, alkaline 1580863 15489334,14702039,12477932,11356846 55331 NM_018367,AP000752,AP002498,AP003119,CH471076,AF214454,AF327353,AK002100,BC049837,BC063034,BC073853,BG702017 NP_060837,EAW75009,EAW75010,EAW75011,EAW75012,AAK71923,AAL56013,BAA92085,AAH73853,Q9NUN7 Hs.23862 GDB:11507402 APHC|FLJ11238 protein-coding 733664 PHEX phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. 1580863 9070861,7550339,9593714,18172553,18162710,18046499,17406123,16437029,16055933,15940367,15896324,15772651,15489334,15337762,15268897,15057978,12874285,12791601,12678920,12477932,11409890,11004247,10737991,10620182,10460513,10439971,10069185,9768674,9768646,9199999,9199930,9106524,9097956,9077527,8889548,2163973 5251 NM_000444,NG_007563,CH471074,U73024,U81183,Y08111,Y10196,AD000712,BC105057,BC105059,BU680665,U60475,U75645,U82970,U87284 NP_000435,EAW98987,AAD08630,AAB42219,CAA69326,CAA71258,AAB51604,AAI05058,AAI05060,AAC50552,AAB47749,AAC24487,AAB47562,P78562 Hs.495834 GDB:120520 HPDR|HPDR1|HYP|HYP1|PEX|XLH phosphate regulating gene with homologies to endopeptidases on the x chromosome protein-coding 1344150 PHF1 PHD finger protein 1 This gene encodes a protein with significant sequence similarity to Drosophila Polycomblike. The encoded protein contains a zinc finger-like PHD (plant homeodomain) finger which is distinct from other classes of zinc finger motifs and which shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. Two transcript variants have been found for this gene. 1580863 9545646,18285464,18086877,16189514,15489334,14574404,12477932,11571280,9373149,8125298 5252 NM_002636,AL021366,AL662799,BX088650,CH471081,AF029678,AF052205,AK225913,BC008834,NM_024165 NP_077084,NP_002627,CAA16158,CAA16159,CAI18271,CAI18272,CAM26298,CAM26299,EAX03729,EAX03730,AAC52062,AAC13273,AAH08834,O43189,Q5SU07,Q5SU08,ABM87418,ABW03882 Hs.166204 GDB:7099446 PCL1|PHF2 protein-coding 1313192 PHF10 PHD finger protein 10 This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. 17081983,16189514,15489334,15302935,14702039,14574404,12477932,11827455,9373149,9110174,8908511,8619474,8125298 55274 NM_133325,NM_018288,AF338735,AL513547,CH471051,AJ420510,AK001837,AK222612,AL133094,BC020954,BC110323,CR457273,CR604749 NP_579866,NP_060758,AAK27451,CAI12316,CAI12317,EAW47442,EAW47443,EAW47444,BAA91934,BAD96332,AAH20954,AAI10324,CAG33554,Q53HG8,Q5T069,Q8WUB8,ABM82358,ABM85533 Hs.435933 FLJ10975|MGC111009|XAP135 protein-coding 1354183 PHF10P1 PHD finger protein 10 pseudogene 1 11827455 158905 NG_005114,AF338734,AL356738 XAP135P pseudo 1321995 PHF11 PHD finger protein 11 1580863 17702965,16344560,15674390,15489334,12754510,12477932,10508479,9373149,8125298 51131 NM_001040443,NM_001040444,AL139321,CH471075,AB011031,AF155105,AK026228,AK225986,BC017212,BE621153,CR618983,DA652444,DB050568 NP_001035533,NP_001035534,CAH71044,CAH71045,CAH71046,EAX08827,EAX08828,BAA32101,AAD42871,AAH17212,Q5W0A4,Q5W0A5,Q5W0A6,Q9UIL8,ABM82884,ABM86074 Hs.369039 APY|BCAP|IGEL|IGER|IGHER|NY-REN-34|NYREN34|RP11-185C18.3 protein-coding 1313935 PHF12 PHD finger protein 12 1580863 16565220,12391155,11390640,15489334,15302935,14702039,12477932,10819331 57649 NM_001033561,NM_020889,AC024267,CH471159,AB040956,AK024290,AK091441,AK160370,AK291420,AL161953,AY030283,BC001657,BC110882,BC121043,BC121044 NP_001028733,NP_065940,EAW51164,EAW51165,EAW51166,EAW51167,BAA96047,BAB14875,BAD18713,BAF84109,AAK38349,AAH01657,AAI10883,AAI21044,AAI21045,Q0VAI5,Q0VAI6,Q2TAK2,Q96QT6 Hs.444173 FLJ34122|KIAA1523|MGC131914|PF1 protein-coding 1317748 PHF13 PHD finger protein 13 1580863 16344560,15825179,15489334,14702039,12477932 148479 NM_153812,AL031447,CH471130,AB209544,AK027492,AK097715,AL121733,AY069975,BC007931,BC032792,BC038516,BC048202,CR612215,CR618324,DB064673 NP_722519,CAI19471,EAW71561,BAD92781,CAB57324,AAL58478,AAH32792,AAH38516,Q59FB6,Q5TH65,Q86YI8 Hs.516079 MGC43399|PHF5|SPOC1 protein-coding 1349780 PHF14 PHD finger protein 14 1580863 17081983,16341674,15302935,14702039,12477932,9872452,9847074 9678 NM_001007157,NM_014660,AC005007,AC007029,AC080064,AC104089,CH236948,CH471073,AA699404,AA837024,AB018326,AK123522,BC152414,BM741266,BM773384,BM834437,CR625297 NP_001007158,NP_055475,EAW93633,EAW93634,EAW93635,EAW93636,BAA34503,AAI52415,O94880 Hs.655688 MGC176640 protein-coding 1319333 PHF15 PHD finger protein 15 1580863 16916647,15489334,14702039,14612400,12693554,12477932,9039502 23338 NM_015288,AC005355,AC106763,CH471062,AJ251833,AK025001,AK056471,AK074123,AK290471,AK292635,BC004292,BC009307,BC021169,BC021962,BN000288,D87076 NP_056103,EAW62252,EAW62253,EAW62254,EAW62255,EAW62256,CAB94935,BAB84949,BAF83160,BAF85324,AAH04292,AAH09307,AAH21962,CAE30501,BAA13245,Q9BT87,Q9NQC1,ABZ92311 Hs.483419 JADE2|KIAA0239 protein-coding 1344107 PHF16 PHD finger protein 16 This gene is part of a gene cluster on chromosome Xp11.23. The encoded protein contains a zinc finger motif often found in transcriptional regulators, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein. 1304513,1580863 17081983,16344560,15772651,15489334,15302935,14612400,12477932,11944989,10775800,9039502 1304513 9767 NM_001077445,NM_014735,AL627143,CH471164,Z83822,AF127774,AK291220,BC113880,BC114487,BN000289,D86969,DB063092 NP_001070913,NP_055550,EAW59277,EAW59278,AAD51905,BAF83909,AAI13881,AAI14488,CAE30502,BAA13205,Q92613 Hs.371977 JADE3|KIAA0215|MGC138748|MGC138749 protein-coding 1315809 PHF17 PHD finger protein 17 12169691,17081983,16713569,16387653,16046545,15815621,15502158,15489334,14702039,14612400,12477932,11347906 79960 NM_024900,AC093783,AC108024,CH471056,AB058710,AF520952,AK026132,AK027620,NM_199320,CR608541,DB451567,AK074986,AK127326,BC032376,BN000287 NP_955352,NP_079176,AAY40997,EAX05170,EAX05171,EAX05172,EAX05173,EAX05174,EAX05175,EAX05176,BAB47436,AAM95612,BAB15371,CAE30500,Q6IE81,ABM82498,ABM85692,BAB55239,BAC11335,BAC86931,AAH32376 Hs.12420 FLJ22479|JADE1|KIAA1807 protein-coding 1321268 PHF19 PHD finger protein 19 16341674,15563832,14702039,12477932 26147 NM_001009936,AL161911,AL354792,CH471090,AA743545,AK122744,AL117477,BC022374,NM_015651,BC044224,BC108663,BC125076,BC125077,BM784790,BX640713,CR621777 NP_056466,NP_001009936,CAI95112,CAI15690,CAI15691,CAI15692,CAQ10217,EAW87475,EAW87476,EAW87477,EAW87478,CAB55950,AAH22374,AAI08664,AAI25077,AAI25078,CAE45832,Q5T6S3 Hs.460124 MGC131698|MGC149712|MGC149713|MGC23929|PCL3 protein-coding 1313130 PHF2 PHD finger protein 2 This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. 10051327,12477932,12168954,9734811 5253 BC152437,BQ716020,BU507256,CB990295,CR622049,AL353629,AL359181,CH471089,AB014562,AF043725,AL834263,BC028051,BC050112,BC064613,NM_005392,NM_024517 AAI52438,O75151,Q4VXB9,Q6P2C5,Q8N359,NP_078793,CAI96110,CAI96111,EAW62867,EAW62868,EAW62869,EAW62870,EAW62871,BAA31637,AAD21791,CAD38938,AAH28051,AAH64613,NP_005383 Hs.211441 GDB:9836232 GRC5|JHDM1E|KIAA0662|MGC176680 protein-coding 1605683 PHF20 PHD finger protein 20 17081983,15906353,15489334,14702039,12800201,12477932,12097419,11780052,11703362,8889549 51230 BG778940,BM906582,BX643875,CD690482,CR626103,CR626433,L09749,T49487,NM_016436,AL078461,AL109965,AL356422,AL357374,CH471077,AF220416,AF258787,AF348207,AK054597,AK090798,AK097498,AL137330,AL558423,AY027523,AY134747,BC006415,BC016948,BC022933,BC048210,BC062681,BC080598,BC093405,BC150178 Q566Q2,Q5JWZ0,Q5JXK8,Q5JXK9,Q5JXL0,Q5JXL1,Q66K49,Q7Z5E2,Q8N2C8,Q9BVI0,NP_057520,CAI43144,CAI43145,CAI43146,CAI19246,CAI19247,EAW76153,EAW76154,EAW76155,EAW76156,EAW76157,EAW76158,AAF34184,AAG49888,AAK19748,BAC03520,AAK13046,AAN08621,AAH48210,AAH80598,AAH93405,AAI50179 Hs.517044 C20orf104|FLJ33479|GLEA2|HCA58|NZF|TZP protein-coding 1606010 PHF20L1 PHD finger protein 20-like 1 16344560,14702039,12477932,10810093 51105 NM_016018,NM_032205,NM_198513,AF228727,AF230666,CH471060,AF151830,AI913146,AK022280,AK023711,AK025268,AK057961,AK126085,AK290506,AL538135,AW014677,AY279109,BC002822,BC015211,BC036953,BC050655,BC056413,BF243139,BQ006054,BU195139,BX641040,C15953,CD557358,CR623764,DA196349,DB498348 NP_057102,NP_115581,NP_940915,EAW92148,EAW92149,EAW92150,EAW92151,EAW92152,EAW92153,EAW92154,AAD34067,BAB14653,BAB15098,BAF83195,AAP33690,AAH15211,AAH50655,AAH56413,A8MW92,Q86U89,Q9H8G4,AAI56242,AAI57018 Hs.304362 CGI-72|MGC64923 protein-coding 1354499 PHF21A PHD finger protein 21A BHC80 is a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM] 15325272,17394647,16140033,14702039,12493763,12477932,12032298,11214970,16189514,15489334 51317 NM_016621,NM_001101802,AC024475,AC068385,AC129913,CH471064,AB051483,AF208848,AK021530,AK023258,AL359593,AL359608,AY090777,BC015714,BX648236,CB266669,CR624589 NP_057705,NP_001095272,EAW68012,EAW68013,EAW68014,EAW68015,EAW68016,EAW68017,EAW68018,BAB21787,AAF64262,BAB13839,BAB14492,AAM09095,AAH15714,CAH10542,Q96BD5,ABZ92334 Hs.502458 BHC80|BM-006|KIAA1696 protein-coding 1344183 PHF21B PHD finger protein 21B 737633 15489334,15461802,14702039,12477932,10591208 737633 112885 NM_138415,AL049760,AL079301,CH471138,Z83838,AK091480,AK092243,AK095777,BC012187,CR456448,CR615765 NP_612424,EAW73365,EAW73366,EAW73367,AAH12187,CAG30334,Q96EK2,CAK54430,CAK54729 Hs.254097 BHC80L|FLJ34161|PHF4 protein-coding 1601853 PHF23 PHD finger protein 23 16344560,14702039,12477932 79142 AC120057,CH471108,CQ783657,AI129084,AK026537,AK074766,AK122791,AK122901,AY099328,BC002509,BC008630,CR607447,CR619972,CR625963,DA131173,EF071959,NM_024297 NP_077273,EAW90240,EAW90241,EAW90242,EAW90243,CAF86797,BAB15498,BAC11192,AAM44129,AAH02509,AAH08630,ABK59097,Q9BUL5 Hs.647432 FLJ16355|FLJ22884|MGC2941|hJUNE-1b protein-coding 1312646 PHF3 PHD finger protein 3 1580863 11856869,17081983,16964243,15906353,15489334,15345747,15302935,14702039,14574404,12477932,12168954,11464277,9039502 23469 NM_015153,AL050329,AL445676,CH471143,AF091622,AK025283,AK055678,AK290491,BC040583,BC113650,BC113652,BX648268,D87685 NP_055968,CAM45842,CAI16104,EAW88496,AAF21292,BAF83180,AAI13651,AAI13653,CAI56715,BAA13438,Q92576 Hs.348921 GDB:9956601 KIAA0244|MGC142210|MGC142212 protein-coding 1348069 PHF4 PHD finger protein 4 50609 GDB:10796212 1348043 PHF5A PHD finger protein 5A This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. 12226669,12234937,15489334,15461802,12477932,12054543,10591208,15146077 84844 NM_032758,AL008582,CH471095,BC007321,BC075808,BK000563,BU584712,CR456398,CR594092,CR617199 NP_116147,CAB62939,EAW60433,EAW60434,AAH07321,AAH75808,DAA00074,CAG30284,Q7RTV0,CAK54387,CAK54686,ABZ92207 Hs.474980,Hs.707800 INI|MGC1346|SF3b14b|bK223H9.2 protein-coding 1605766 PHF5CP PHD finger protein 5C pseudogene 12054543 450232 NG_004711,AC011448 PHF5AP1 pseudo 1605764 PHF5DP PHD finger protein 5D pseudogene 12054543 450238 NG_005422,AC026348 pseudo 1605763 PHF5EP PHD finger protein 5E pseudogene 12054543 450239 NG_005423,AC139451 pseudo 1605762 PHF5FP PHD finger protein 5F pseudogene 12054543 450246 NG_005424,AC005000 pseudo 1605765 PHF5GP PHD finger protein 5G pseudogene 12054543 450234 NG_005421,AC067940 pseudo 1605761 PHF5HP PHD finger protein 5H pseudogene 12054543 450250 NG_005425,AC015712 pseudo 1354174 PHF6 PHD finger protein 6 This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 17081983,15994862,15772651,15635413,15489334,15466013,15241480,14756673,14714754,14714741,12676923,12477932,12415272,11347906 84295 NM_032458,NM_001015877,NM_032335,AC004383,AL591668,CH471107,AB058726,AK290095,AL832725,AW297001,AY157622,BC005994,BG122271,CD685336,CF242973,DR000282 NP_115834,NP_001015877,NP_115711,CAI41600,CAI41601,CAI41602,EAX11762,EAX11763,EAX11764,EAX11765,EAX11766,BAB47452,BAF82784,AAO13214,AAH05994,Q5JRC7,Q8IWS0 Hs.356501 GDB:120566,GDB:11508944 BORJ|MGC14797 protein-coding 1318527 PHF7 PHD finger protein 7 Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. In the testis, this gene is expressed in Sertoli cells but not germ cells. However, this gene is not expressed in a patient who exhibited spermatogenic arrest at the spermatocyte stage. Spermatogenic arrest is an interruption of germ cell differentiation that may result in oligospermia or azoospermia. The proteins encoded by this gene contain plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. Thus this protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Two protein isoforms are encoded by transcript variants of this gene. 1580863 15489334,12477932,11829468,11042152,9373149,8125298,7701562 51533 NM_016483,NM_173341,AC006208,AC092045,CH471055,AF151060,AK223531,AK292221,AL137671,AY014283,BC022002,BG704704 NP_057567,NP_775463,EAW65222,EAW65223,EAW65224,AAF36146,BAD97251,BAF84910,CAB70867,AAK27308,AAH22002,Q53EV8,Q9BWX1,Q9NS08,Q9NSX7,ABM81823,ABM84977 Hs.372719 GDB:11510182 DKFZp434L1850|HSPC045|HSPC226|MGC26088|NYD-SP6 protein-coding 1347460 PHF8 PHD finger protein 8 1580863 17661819,17081983,16199551,15772651,15489334,15302935,14702039,12477932,12168954,10470851,10398231 23133 NM_015107,AL732374,Z98051,AB029034,AF091081,AK021696,AK022788,AK027229,BC017720,BC042108,BC053861,CR595374,CR626598,CR933612 NP_055922,CAI41576,CAI41577,CAI41578,CAI41579,CAI41581,CAI41582,CAI42860,CAI42861,CAI42863,CAQ08298,CAQ08299,CAQ08300,CAQ08301,CAQ08302,BAA83063,AAC72950,BAB13877,AAH53861,CAI45929,O95327,Q5H900,Q5H901,Q5H902,Q5JPS2,Q5JPS3,Q9UPP1 Hs.133352 DKFZp686E0868|JHDM1F|KIAA1111|MRXSSD|ZNF422 protein-coding 737224 PHGDH phosphoglycerate dehydrogenase 3-Phosphoglycerate dehydrogenase (PHGDH; EC 1.1.1.95) catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the first and rate-limiting step in the phosphorylated pathway of serine biosynthesis, using NAD+/NADH as a cofactor.[supplied by OMIM] 1600412,1300048,1580863 8758134,16730941,16710414,16236267,15489334,14702039,12477932,11751922,11055895,11034457,10894924,10713460 1600412 26227 NM_006623,AF208732,AF208733,AF208734,AF208735,AF208736,AL139251,AL589734,CH471122,AF171235,AF171236,AF171237,AK093306,AK129762,BC000303,BC001349,BC011262,BC023235,BC032110,CR456795,CR592544,CR595107,CR600485,CR611188,CR612347,CR616251,CR617402,CR619716,CR622574 NP_006614,AAK60573,AAK60574,AAK60575,AAK60576,AAK60577,CAI22407,CAI22409,EAW56707,EAW56708,AAD51413,AAD51414,AAD51415,AAH00303,AAH01349,AAH11262,AAH32110,CAG33076,O43175,Q5SZU1,Q8N5M8,Q96RV5,Q96RV6,Q96RV7,Q96RV8,Q96RV9,Q9UMY2,Q9UMY3,ABM82999,ABW03347 Hs.487296 GDB:9958261 3-PGDH|3PGDH|MGC3017|PDG|PGAD|PGD|PGDH|SERA protein-coding 1345138 PHIP pleckstrin homology domain interacting protein 11018022,17636024,15009096,14702039,12477932 55023 NM_017934,AL356776,AL450327,CH471051,AF310250,AJ303102,AK000712,AK057039,AK075124,AK127816,AL161957,BC008909,BC021905,BC036479,BC064611,BC081569,BC137488,BI548935,DQ924532 NP_060404,CAI14406,CAH70884,EAW48717,EAW48718,EAW48719,AAG45145,CAC83118,BAA91336,BAB71353,BAC11417,CAH10776,AAH08909,AAH21905,AAH81569,AAI37489,ABK76299,Q8N480,Q8WWQ0,Q9NWP3 Hs.511817,Hs.606356 GDB:11508444 FLJ20705|FLJ45918|MGC90216|WDR11|ndrp protein-coding 733215 PHKA1 phosphorylase kinase, alpha 1 (muscle) The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (EC 2.7.1.38), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; MIM 172490), and gamma (PHKG1; MIM 172470 and PHKG2; MIM 172471) subunits have several isoforms; the delta subunit is calmodulin (CALM1; MIM 114180). PHKA2 (MIM 306000) encodes the alpha subunit of liver-specific phosphorylase kinase and is also located on the X chromosome.[supplied by OMIM] 1599897,70269,1599893,1580863 8226841,7874115,15489334,12876330,12825073,12477932,10487978,2757032,2108025,1872871 1599897,1599893 5255 NM_002637,NM_001122670,BX295541,BX295542,CH471213,AK123357,AW450116,BC104944,BJ998054,BX647542,DR002787,X73874 NP_002628,NP_001116142,EAW71825,EAW71826,BAC85594,AAI04945,CAA52083,P46020,Q6ZWB0 Hs.201379 GDB:120285 MGC132604|PHKA phosphorylase b kinase alpha subunit protein-coding 2293162 PHKA1P1 phosphorylase kinase, alpha 1 pseudogene 1 12825073,11181995 646780 XM_001726839,XM_001721219,XM_001719426,NG_007661,AC091614,CH471097 XP_001726891,XP_001721271,XP_001719478,EAW73119 pseudo 1344785 PHKA2 phosphorylase kinase, alpha 2 (liver) 1601388,1580863 12620389,1872871,7549948,17581768,16565220,15851553,15772651,15489334,15231748,14702039,14684825,12876330,12862311,12477932,10330341,9835437,9600238,8733134,8733133,8518797,8226841,7847371,7711737,5306139,2387090,2303074,1505214,1372435 1601388 5256 NM_000292,AF044572,AL096700,AL732509,CH471074,Y15154,AK056812,AK289996,AY429559,AY429560,AY429562,AY429563,BC014036,BC038597,BC114375,CD722555,CR596323,D38616,DB458123,W63591,X73875,X80497 NP_000283,AAD32846,EAW98951,CAA75421,BAF82685,AAH14036,AAI14376,BAA07606,CAA52084,CAA56662,P46019,Q29R65,ABM84603,ABM86486 Hs.54941,Hs.622882 GDB:127279 GSD9A|MGC133071|PHK|PYK|PYKL|XLG|XLG2 protein-coding 1343205 PHKB phosphorylase kinase, beta 1580863 9402963,16189514,15489334,12876330,12825073,12477932,10487978,9533876,9326319,9215682,8681948,2757032,1872871 5257 AK123692,BC033657,CR936710,NM_000293,NM_001031835,AC007599,AC092374,CH471092,X84909,Y15155,X84908 AAH33657,NP_000284,NP_001027005,EAW82700,EAW82701,CAA59333,CAA75422,CAA59332,Q6LAJ4,Q93100,ABM82280 Hs.78060 GDB:120286 DKFZp781E15103|FLJ41698 protein-coding 1342879 PHKBP1 phosphorylase kinase, beta pseudogene 1 8681948 5258 NG_001172,AL021396,X85225 GDB:454473 pseudo 1348085 PHKBP2 phosphorylase kinase, beta pseudogene 2 8681948 5259 AL132857,X85226,NG_001173 GDB:454474 pseudo 731844 PHKG1 phosphorylase kinase, gamma 1 (muscle) This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. 1580863 2297530,16344560,12853948,12825073,12665801,12477932,12387894,10737616,10090741,9832145,9771888,9735171,9362479,8999860,8672716,8530014,7935360,7929096,7874115,7706316,2507540,2365696 5260 Q16816,Q6NSZ4,Q75LP5 NM_006213,AC092101,BC051327,BC069655,BC069679,BC069738,BC069754,BC074753,DB171823,X80590,AF254253,CH471140 NP_006204,AAS07453,AAH51327,AAH69655,AAH69679,AAH69738,AAH69754,AAH74753,CAA56681,Q16816,Q6NSZ4,Q75LP5,AAL36972,EAX07987,EAX07989 Hs.652127 GDB:120287 PHKG protein-coding 2292063 PHKG1P1 phosphorylase kinase, gamma 1 pseudogene 1 12825073 643941 NG_005544,AC006455 pseudo 2291789 PHKG1P2 phosphorylase kinase, gamma 1 pseudogene 2 12825073 644032 NG_005545,AC006457 pseudo 732798 PHKG2 phosphorylase kinase, gamma 2 (testis) 1580863,737725,737724 8020963,2948189,8896567,15489334,14702039,12930917,12477932,10905889,9384616,9362479,7935363,6962066,2915644 737725,737724 5261 NM_000294,AC106886,CH471192,Y11950,Y11951,AB209055,AK055943,AK289492,BC002541,BC036735,CR593394,CR596608,CR598568,CR605407,CR606272,CR613291,CR618759,CR621603,M14503,M31606,S73483 NP_000285,EAW52208,EAW52209,EAW52210,EAW52211,CAA72694,BAD92292,BAF82181,AAH02541,AAA36518,AAA36442,AAD14119,P15735,Q16221,Q59GQ4,ABM83108,ABW03492 Hs.196177 GDB:140316 protein-coding 1345002 PHKGL phosphorylase kinase, gamma-like 12825073 5262 NG_005543,AC109635 GDB:120288 PHKG1P3|PHKg1ps2 pseudo 733133 PHLDA1 pleckstrin homology-like domain, family A, member 1 This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. 11369516,17870236,17211533,15489334,15315823,15037619,15002043,12738777,12477932,12384558,10894922,9417904,16189514 22822 NM_007350,AC011611,AF239986,CH471054,AF220656,AK026181,BC017756,BC018929,BC037430,BC039558,BC047362,BC065825,BC110820,BC126425,BC130427,CR603389,CR607629,DR002699,U92983,Z50194 CAA90576,Q8WV24,NP_031376,AAF64165,EAW97312,EAW97313,AAF36387,AAH18929,AAI10821,AAI26426,AAI30428 Hs.602085 GDB:9957161 DT1P1B11|MGC131738|PHRIP|TDAG51 t-cell death associated gene protein-coding 1312382 PHLDA2 pleckstrin homology-like domain, family A, member 2 This gene is one of several genes in the imprinted gene domain of 11p15.5 which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Studies of the mouse gene, however, which is also located in an imprinted gene domain, have shown that the product of this gene regulates placental growth. 9328465,17388661,17303335,17180344,16964243,16584773,15489334,13129680,12477932,12374806,12032310,10749982,10594239,10197590,9520460,9500470,9403053,9373149,8125298 7262 AC013791,CH471158,AF001294,AF019953,NM_003311,AF035444,AI659266,AK223027,BC005034,CR407664 EAX02531,AAB86680,AAC51912,NP_003302,AAC17458,BAD96747,AAH05034,CAG28592,Q53GA4 Hs.154036 BRW1C|BWR1C|HLDA2|IPL|TSSC3 protein-coding 1321441 PHLDA3 pleckstrin homology-like domain, family A, member 3 17353931,10594239,15489334,14702039,12477932,9373149,8125298 23612 NM_012396,AC096677,CH471067,AF151100,AK075179,AK222644,BC014390,BC068273,CR592160,CR605205,CR607788,CR608565,CR622274 NP_036528,EAW91369,AAD42081,BAC11454,BAD96364,AAH14390,AAH68273,Q9Y5J5 Hs.268557 GDB:10450262 TIH1 protein-coding 1354110 PHLDB1 pleckstrin homology-like domain, family B, member 1 17081983,15491607,15489334,14702039,14532993,12477932,12168954,11001876,9734811 23187 NM_015157,AP000941,AP002954,CH471065,AB014538,AB094090,AB177859,AK021690,AK027510,AK074070,AK074747,AK074918,AK125783,AL080230,AL832373,BC013031,BC014510,BC098586,BX648176,CR749783 NP_055972,EAW67400,EAW67401,EAW67402,EAW67403,EAW67404,EAW67405,EAW67406,EAW67407,BAA31613,BAC76044,BAD66837,BAB55164,BAB84896,BAC11292,BAC86289,AAH13031,AAH14510,AAH98586,CAH18649,Q5W9G0,Q68CT9,Q6ZUD6,Q86UU1,Q8NC75,Q96C94,Q96D60,Q96SW0 Hs.504062 DKFZp686H039|DKFZp686O24210|FLJ00141|FLJ90266|KIAA0638|LL5A|MGC111531 protein-coding 1350676 PHLDB2 pleckstrin homology-like domain, family B, member 2 737633 16964243,16824950,15489334,15324660,15302935,14702039,12477932,12376540,11001876 737633 90102 NM_145753,AC060225,CH471052,AB209903,AF506820,AJ496194,AK025444,AK027862,AK092996,AK096151,AK125555,AL137663,AL832205,AL832476,AL833135,BC022383,BC031000,BC038806,BC069194,BC142678,BC150210,BX647615,CR749654 NP_665696,EAW79690,EAW79691,EAW79692,BAD93140,AAM33634,CAD42711,BAC04014,BAC04713,BAC86200,CAH56386,CAH10396,CAH10400,CAH56216,AAH31000,AAH38806,AAH69194,AAI42679,AAI50211,CAH18447,Q658P8,Q659D2,Q69YN5,Q69YR3,Q6ZUM0,Q86SQ0,Q8IXY4,Q8NEI7 Hs.477114,Hs.679140 DKFZp313O2433|DKFZp434G227|DKFZp686J05113|FLJ21791|LL5b|LL5beta protein-coding 1345533 PHLDB3 pleckstrin homology-like domain, family B, member 3 737633 11181995,8889548,8012384,15489334,15057824,14702039,12477932 737633 653583 NM_198850,AC018758,CH471126,Z59022,AK097512,BC007947,BC029299,BC070094,BU858992,CA502903,CB850627 NP_942147,EAW57191,EAW57192,EAW57193,BAC05082,AAH07947,AAH70094,Q6NSJ2,Q96HZ0 Hs.631581 FLJ40193|MGC87511 protein-coding 731281 PHLPP PH domain and leucine rich repeat protein phosphatase 17386267,16177791,15951569,15808505,15489334,14702039,12477932,12168954,10570941,9628581 23239 NM_194449,AC015989,AC022046,AC027553,CH471096,AB011178,AF130097,AK001924,AK124714,AL079409,BC010706,BC014927,BC047653,BC063519,BC082244,BC126277,BG110729 NP_919431,EAW63135,BAA25532,AAG35522,BAA91980,AAH10706,AAH14927,AAH47653,AAH63519,AAH82244,AAI26278,O60346,Q9H380 Hs.465337 MGC161555|PHLPP1|PLEKHE1|SCOP protein-coding 1604636 PHLPPL PH domain and leucine rich repeat protein phosphatase-like 17386267,16381901,15616553,15489336,14702039,12477932,11256614,11230166,11076863,10231032 23035 NM_015020,AC009097,CH471166,AB023148,AK001661,AK001854,AK124678,BC035267,BC129927,BC129983,BX647823,BX648157,BX648394 NP_055835,EAW59225,EAW59226,BAA76775,BAA91943,BAC85924,AAH35267,AAI29928,AAI29984,Q0JSU5,Q0JU66,Q3ZCW4,Q6ZVD8,CAL37945,CAL38419 Hs.531564 KIAA0931|PHLPP2 protein-coding 1314655 PHOSPHO1 phosphatase, orphan 1 1580863 16054448,15489334,15175005,15050893,14983068,12477932,12464021 162466 NM_178500,AC004797,CH471109,AJ457189,BC029931,BC117187 NP_848595,EAW94686,CAD29803,AAI17188,Q8TCT1 Hs.405607 GDB:11508884 protein-coding 1603445 PHOSPHO2 phosphatase, orphan 2 16054448,15815621,15489334,12477932 493911 BC022324,BC106013,NM_001008489,AC016772,CH471058 AAH22324,AAI06014,Q8TCD6,NP_001008489,AAY24234,EAX11262,EAX11263 Hs.655150 MGC111048|MGC22679 protein-coding 733682 PHOX2A paired-like homeobox 2a The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. 1599902,1580863 8661014,18323871,17584765,17505528,17344216,16280598,16156742,16127999,16049556,15489334,15240857,14597037,14566559,14506227,12477932,12100889,11943777,11889467,11600883,11549713,10644760,9683611,9341190,9119371 1599902 401 AF022722,AF022723,AF022724,AJ320270,AP000593,CH471076,AK290645,BC041564,BQ890461,CR593042,NM_005169,CR595525,CR596068,CR600761,CR604478,CR607218,CR607262,CR621077 NP_005160,AAB82744,CAC44904,EAW74856,BAF83334,AAH41564,O14813,Q96KQ2,ABZ91991 Hs.710739 ARIX|CFEOM2|FEOM2|MGC52227|NCAM2|PMX2A protein-coding 1347823 PHOX2B paired-like homeobox 2b The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. 1599147,1599148,1580863 10395798,18323871,18275850,18198276,18157832,18079495,18041756,17765533,17637745,17541758,17505528,17440194,17300129,16888290,16873766,16830328,16763219,16691592,16402914,16280598,16249188,16144830,16127999,16021468,15901893,15657873,15653965,15516980,15489334,15338462,15240857,15193420,15185974,15024693,14566559,12919134,12640453,12631670,12477932,12438263,11034547,10360575,9374403,16049556,9039501 1599147,1599148 8929 NM_003924,AB015671,AC105389,AF117979,AF414189,CH471069,AI266171,BC017199,CR592141,CR603200,CR615256,D82344 NP_003915,BAA82670,AAD26698,EAW92989,AAH17199,BAA11555,Q99453 Hs.87202 NBPhox|PMX2B protein-coding 1350249 PHP panhypopituitarism 5263 GDB:119494 1322769 PHPT1 phosphohistidine phosphatase 1 PHPT1 is an EDTA-insensitive phosphohistidine phosphatase that catalyzes the dephosphorylation of phosphopeptide I (Ek et al., 2002 [PubMed 12383260]).[supplied by OMIM] 1580863 12383260,16130169,16713569,16381901,16219293,16189514,15489336,15489334,12477932,11342225,11230166,11076863,11042152,10931946,9110174,8619474 29085 AF131857,AF161490,AF164795,AF285119,AF393504,AL136644,BC024648,CR533481,CR614794,CR625675,NM_014172,AL355987,CH471090 AAF29105,AAF80759,AAG01156,AAN52504,CAB66579,AAH24648,CAG38512,Q0JSG6,Q5T5S3,Q6FIE5,Q9NRX4,Q9P019,CAL38548,NP_054891,CAI12692,CAI12693,EAW88289,EAW88290,EAW88291,EAW88292 Hs.409834 CGI-202|DKFZp564M173|HSPC141|PHP14|RP11-216L13.10|bA216L13.10 protein-coding 1353546 PHTF1 putative homeodomain transcription factor 1 1580863 10729229,18305142,16710414,16344560,15489334,12477932,10395808,1729229 10745 NM_006608,AL133517,AL365321,CH471122,AJ011863,AK126773,BC000842,BC002447,CR606961,CX763183,DA728266,DB457884 NP_006599,CAI22546,CAI22547,CAI22548,CAI22549,CAI22550,CAI22551,CAH72502,CAH72503,CAH72504,EAW56566,EAW56567,EAW56568,EAW56569,CAB51572,AAH00842,AAH02447,Q5TCQ7,Q5TCR1,Q5VWP6,Q5VWP9,Q9BVX8,CAH72505,Q9UMS5 Hs.655824 GDB:9958240 PHTF protein-coding 1321591 PHTF2 putative homeodomain transcription factor 2 11256614,16381901,15489336,14702039,12477932,11230166,11076863,10729229,9373149,8125298 57157 NM_020432,AC073520,CH236949,CH471091,AK090643,AK225854,AL050389,AL136883,AL831969,BC018098,BC022419,BC032334,BC067742,BC127093,BC127094,CR626078 NP_065165,EAL24195,EAW77027,EAW77028,EAW77029,EAW77030,EAW77031,CAB43684,CAB66817,CAD38610,AAH18098,AAH22419,AAH32334,AAH67742,AAI27094,AAI27095,Q0JTT4,Q0JUF0,Q6NW35,Q8N3S3,Q8N5I6,Q8TBW4,Q8WVD6,Q9Y3T4,CAL37861,CAL38078 Hs.203965 GDB:11502987 DKFZP564F013|FLJ33324|MGC86999 protein-coding 731796 PHYH phytanoyl-CoA 2-hydroxylase This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1358251,1580863 8954107,17353931,9326940,16189514,16186124,15930519,15489334,14974078,12923223,12767919,12477932,11574539,11555634,11549466,10866807,10767344,10744784,10709665,10686344,10588950,10051602,9565335,9326939,9266377,9221344,2433405 1358251 5264 NM_006214,NM_001037537,AF242379,AL138764,CH471072,AF023462,AF112977,BC021011,BC029512,BF185692,BF509272,BM351828,CR542055,CR591194,CR597553,CR600223,CR610525,CR623416,CR623967 NP_006205,NP_001032626,AAF74123,CAI12910,CAI12911,EAW86294,EAW86295,AAB81834,AAD20602,AAH29512,CAG46852,O14832,Q5TB63,Q6FGQ2,ABM81933,ABM85111 Hs.498732 GDB:9263423 LN1|LNAP1|PAHX|PHYH1|RD phytanoyl-coa hydroxylase (refsum disease) protein-coding 1321250 PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 737633,1580863 14702039,12477932,8889548 737633 254295 NM_001100876,NM_174933,NM_001100877,AL672142,CH471090,AK054994,AK095000,BC009373,BC051300,BC053853,BM689360,CR598139,CR614962 NP_001094346,NP_777593,NP_001094347,EAW87844,EAW87845,EAW87846,EAW87847,EAW87848,AAH09373,AAH51300,AAH53853,Q5SRE7 Hs.709447 MGC16638 protein-coding 1314035 PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein 15694837,15489334,12477932,11245925,10686344,9039502,8889548 9796 NM_014759,NM_001099335,AC105206,CH471080,AK098743,BC034034,BC035940,BM674072,D87463 NP_055574,NP_001092805,EAW63693,EAW63694,AAH34034,AAH35940,BAA13402,Q92561 Hs.334688 GDB:9785431 DYRK1AP3|KIAA0273|PAHX-AP|PAHXAP1 protein-coding 1317467 PHYHIPL phytanoyl-CoA 2-hydroxylase interacting protein-like 737633 16381901,16189514,15489336,14702039,12975309,12477932,11347906,11256614,11230166,11076863 737633 84457 NM_032439,AC016398,AC025038,CH471083,AB058699,AK054956,AL365474,AL834339,AY358162,BC011268,CR593164,CR611792,CR749429 NP_115815,EAW54184,EAW54185,EAW54186,BAB47425,BAB70832,CAB97028,CAD39006,AAQ88529,AAH11268,CAH18267,Q68DF3,Q6UXY3,Q8N3W3,Q96FC7,Q96JM9,CAL37621,CAL38059 Hs.499704 KIAA1796 protein-coding 1319988 PI15 peptidase inhibitor 15 This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. 1580863 9473672,12477932,10362728,8882727 51050 NM_015886,AC011632,AC026616,CH471068,AK130318,AK130386,BC074931,BC074932,BC126290,BC126292,CR749657,D45027 NP_056970,EAW87037,AAH74931,AAH74932,AAI26291,AAI26293,CAH18451,BAA25066,O43692 Hs.98558 GDB:10796878 CRISP8|DKFZp686F0366|P24TI|P25TI protein-coding 1312389 PI16 peptidase inhibitor 16 17062675,16303743,15344909,12975309,12477932 221476 NM_153370,AL122034,AX136261,CH471081,AK075470,AK124589,AL050088,AY358422,BC022399,BC035634,CR626203 NP_699201,CAI23302,CAC39772,EAX03923,EAX03924,BAC11640,BAC85892,AAQ88788,AAH22399,AAH35634,Q6UXB8 Hs.25391 CRISP9|DKFZp586B1817|MGC45378|MSMBBP|PSPBP protease inhibitor 16 protein-coding 1344308 PI3 peptidase inhibitor 3, skin-derived (SKALP) This gene encodes an elastase-specific inhibitor, which contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. 1580863 7685029,8476637,18092325,18025118,17200145,17139263,16980310,16719916,16424380,16300411,16279952,15668324,15489334,15034071,14693682,12970320,12819058,12542536,12477932,12397374,12206714,12164924,12029489,11956616,11868825,11780052,11755920,17964057,17489739,11667971,11466403,11371023,9727750,9171290,8999895,8823304,8794736,8287685,7780965,2394696,2039600,2001428,1969201,1536690,1339270 5266 NM_002638,AL049767,CH471077,D13156,L10343,S58717,S78387,Z48352,BC010952,CR542234,Z18538 NP_002629,CAB53524,EAW75873,EAW75874,BAA02441,AAA36483,AAB26371,AAB34627,AAH10952,CAG47030,CAA79223,P19957,Q6FG74,Q6LD69,ABM83636,ABM86888 Hs.112341 GDB:203940 ESI|MGC13613|SKALP|WAP3|WFDC14 protease inhibitor 3, skin-derived (skalp) protein-coding 1605063 PI4K2A phosphatidylinositol 4-kinase type 2 alpha Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM] 11279162,16443754,16249177,15711748,15302935,14702039,12914695,12650639,12594831,12477932,12324459,11244087,11113129,9110174,9006891,8619474 55361 NM_018425,AL355315,CH471066,AF070611,AJ303098,AK023236,AK024317,AL353952,BC003167,BT007330,CR598202,CR604148,CR609749 NP_060895,EAW49906,EAW49907,CAC38065,CAB89254,AAH03167,AAP35994,Q9BTU6,ABM84463,ABM84684 Hs.25300 DKFZP761G1923|PI4KII|PIK42A|RP11-548K23.6 protein-coding 1602326 PI4K2B phosphatidylinositol 4-kinase type 2 beta 18316730,16949365,16337488,14702039,12477932,12324459,12011096,11923287,11907035 55300 NM_018323,AC104662,AC108218,CH471069,AF411320,AK001967,AK023186,AK128622,AY065990,AY091514,BC031014,BC051749 NP_060793,EAW92836,AAL04154,BAA92006,AAL47580,AAM12049,AAH51749,Q8TCG2 Hs.638037 FLJ11105|PI4KIIB|PIK42B protein-coding 736810 PI4KA phosphatidylinositol 4-kinase, catalytic, alpha This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Two transcript variants encoding different isoforms have been described for this gene. 633726,1580863,1300048 8662589,14676841,7961848,17131383,16606619,15634669,15489334,14702039,12477932,11907035,10101268,9654085,9360995,8889548,8246987,7761838,1318025,12594831,15607035 633726 5297 NM_058004,NM_002650,XM_001131210,AC007050,AC007308,AB210002,AF012872,AK094594,AK095811,AK124692,AK131431,BC018120,BC046202,BC053654,BU685224,CR620194,L36151 NP_477352,NP_002641,XP_001131210,BAE06084,AAD13352,AAH18120,AAH53654,AAA56839,P42356,Q4LE69 Hs.529438 GDB:435501 FLJ16556|PI4K-ALPHA|PIK4CA|pi4K230 phosphatidylinositol 4-kinase protein-coding 1626566 PI4KAP1 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 14702039,12477932 728233 NR_003563,XR_042152,XR_042172,AC023490,AK002141,AK024034,AK096724,AK292695,BC072398,BC131538,CR600426,CR603232,CR613977 BAC04851,BAF85384,AAH72398 Hs.592456 FLJ39405 pseudo 1604941 PI4KAP2 phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 16344560,16189514,15461802,14702039,12477932,12107411,8889548,7566098 375133 CR456378,CR599290,CR601335,CX751888,DA463001,CA313607,NR_003700,AP000557,AA300351,AA425488,AK126860,BC020225,BC139841,BQ638971,BX407261,BX452846 CAG30264,A4QPH2,Q8N8J0,AAI41653,BAC86726,AAH20225,AAI39842 Hs.448225 FLJ44912|MGC31920 pseudo 732673 PI4KB phosphatidylinositol 4-kinase, catalytic, beta 9584208,17353931,9020160,17088255,17081983,17003043,16710414,15634669,15489334,15324660,14607934,12749687,12477932,12324459,12244129,11923287,11526106,11277933,9405938,9405935,9148941,16189514,10559940 5298 NM_002651,AL391069,CH471121,AB005910,AJ011121,AJ011122,AJ011123,BC000029,BC040300,U81802 NP_002642,CAH70324,CAH70325,CAH70326,EAW53449,EAW53450,BAA21661,CAA09495,CAA09496,AAH00029,AAH40300,AAC51156,Q5VWB9,Q5VWC0,Q9UBF8 Hs.632465 GDB:9835884 PI4K-BETA|PI4KIIIbeta|PI4Kbeta|PIK4CB|pi4K92 phosphatidylinositol 4-kinase protein-coding 1352637 PI8L2 protease inhibitor 8 (ovalbumin type)-like 2 10644448 11028 GDB:9956203 1317273 PIAS1 protein inhibitor of activated STAT, 1 This gene encodes a member of the mammalian PIAS [protein inhibitor of activated STAT-1 (signal transducer and activator of transcription-1)] family. This member contains a putative zinc-binding motif and a highly acidic region. It inhibits STAT1-mediated gene activation and the DNA binding activity, binds to Gu protein/RNA helicase II/DEAD box polypeptide 21, and interacts with androgen receptor (AR). It functions in testis as a nuclear receptor transcriptional coregulator and may have a role in AR initiation and maintenance of spermatogenesis. 1580863,1357941,2290530 15572661,15133049,17159996,10805787,9724754,18190974,17934332,17606919,17509614,17371985,17081983,16679534,16600910,16563226,12356736,16522640,16154161,16144832,16135793,15957955,15901746,15782135,15666827,15666801,15657437,15611122,15588942,15580297,15572677,15572666,15489334,15337742,15280358,15231748,15192080,15123615,15028714,14752048,14702039,14701874,14611647,14500761,14500712,12855578,12477932,12393906,12223491,12177000,11877418,11867732,11788578,11672422,11583632,11451946,11439351,11117529,10628744,9177271,14609633 1357941,2290530 8554 BC053685,BC104646,BC118587,BC121797,CR607929,EF487997,EF487998,U78524,NM_016166,AC107871,AC135628,CH471082,AF077951,AF167160,AK094641,AY826819 AAI18588,AAI21798,ABP49565,ABP49566,AAB58488,O75925,Q1XBU8,NP_057250,EAW77804,EAW77805,AAC36702,AAD49722,AAX18639 Hs.162458 GDB:9958712 DDXBP1|GBP|GU/RH-II|MGC141878|MGC141879|ZMIZ3 protein-coding 1603704 PIAS2 protein inhibitor of activated STAT, 2 This gene encodes a protein involved in the regulation of transcription factors involved in MAP kinase signaling. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. Two alternatively spliced transcripts encoding different isoforms have been described. 2290530 15572661,14667819,15767674,17418410,9256341,16730941,16713578,16460827,16204249,16189514,16148010,16144832,15976810,15920481,15580267,15489334,15301740,15231748,14609633,14514699,12716907,12526767,12477932,12393906,12239342,12193603,12177000,11877418,11867732,11477070,11439351,11117529,10961991,9920921,9724754,14752048,15780936 2290530 9063 NM_004671,NM_173206,AC090241,AC090373,CH471088,AA701927,AF077953,AF077954,AF361054,AW016227,BC015190,BC111060,BX646432 NP_004662,NP_775298,EAX01484,EAX01485,EAX01486,EAX01487,EAX01488,AAC36704,AAC36705,AAK48938,AAH15190,AAI11061,O75928,Q2TA77,ABM87420,ABW03883 Hs.658013 MGC102682|MIZ1|PIASX|PIASX-ALPHA|PIASX-BETA|SIZ2|ZMIZ4|miz protein-coding 1344818 PIAS3 protein inhibitor of activated STAT, 3 This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. 1580863,1642482,2290530 15140884,18212042,17032498,16679534,16522640,16455055,16368885,16098628,15907835,15489334,15231748,15138572,14715251,14702039,14691252,14630083,12869526,12804609,12477932,12387893,12208521,11709556,11429412,11390395,11117529,11071847,11060035,10319586,9388184,16189514,17565989 1642482,2290530 10401 NM_006099,AL160282,CH471244,AB021868,AK027557,AK125158,AL122061,AL133016,BC001154,BC030556,BE247489,BT007036,CR457090,CR590421 NP_006090,EAW71429,EAW71430,EAW71431,BAA78533,CAB59241,CAB61357,AAH01154,AAH30556,AAP35684,CAG33371,Q6IAR4,Q9UFA8,Q9Y6X2,ABM84468,ABM84722,ABM85963,ABW03445 Hs.435761 GDB:9956879 FLJ14651|ZMIZ5 protein-coding 1318687 PIAS4 protein inhibitor of activated STAT, 4 1580863,1357941,2290530 11388671,15383276,11248056,9724754,18384750,18285457,17717071,17585876,17456046,17353273,16906147,16816390,16793547,16679534,16219678,16189514,15976810,15831457,15489334,15251447,15231748,15158472,15155784,14981544,14559918,12815042,12750312,12740389,12727872,12631292,12511558,12477932,11877418,11781839,11731474,11439351,9373149,8125298 1357941,2290530 51588 AC016586,CH471139,AF077952,AF164437,AK022481,AK222726,BC004389,BC010047,BC029874,BC066895,NM_015897 ABM83345,ABM86559,NP_056981,EAW69273,AAC36703,AAD45155,BAD96446,AAH04389,AAH10047,AAH29874,AAH66895,Q05DS6,Q53H55,Q8N2W9 Hs.105779 FLJ12419|MGC35296|PIASY|Piasg|ZMIZ6 protein-coding 1349321 PIB5PA phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A 1580863 12536145,15489334,14702039,12477932,10593988,10591208,10023782,9847074 27124 AK095944,AK126610,BC041652,BC109288,CR599279,CR604969,CR610046,CR611668,CR615040,CR615918,CR617561,CR617784,CR624482,CR625511,U45975,NM_014422,NM_001002837,AC005005,CH471095,AK092859 BAC04657,BAC86611,AAI09289,AAB03216,Q15735,NP_055237,NP_001002837,AAD15618,EAW59936,EAW59937,EAW59938,EAW59939,EAW59940 Hs.517549 GDB:10795922 INPP5|MGC129984|PIPP protein-coding 1312894 PIBF1 progesterone immunomodulatory binding factor 1 16433831,15489334,15305375,15269099,15057823,14634107,12477932,11935316,11407300,11329013,9266004,9138449,8607938,2600930 10464 BG201462,BX341357,CR618612,NM_006346,AL354720,AL391384,CH471093,Y09631,AF330046,AY370776,AY375528,BC006009,BC008432,BC041806,BC051911 Q05DN0,Q4G0R1,Q8WXW3,NP_006337,CAI14869,EAW80522,EAW80523,CAA70844,AAL37481,AAQ73282,AAQ67659,AAH06009,AAH41806,AAH51911 Hs.441926 C13orf24|KIAA1008|PIBF|RP11-505F3.1 protein-coding 732553 PICALM phosphatidylinositol binding clathrin assembly protein 1600760,1580863 10436022,8643484,18182011,18074379,17804713,17597474,17170719,17097559,16491119,16262731,15489334,15146197,14702039,9737689,1547942,15182197,12477932,12461747,10926122 1600760 8301 EF051633,U45976,AF060940,AK128786,AK291414,AY326466,BC048259,BC064357,BC073961,CN310579,NM_001008660,NM_007166,AP000767,CH471076,AB210017,AF060939 ABK54356,AAB07762,Q13492,Q4LE54,Q6EHZ1,Q6GMQ6,AAC16711,AAC16712,BAF84103,AAR99516,AAH48259,AAH64357,AAH73961,NP_001008660,NP_009097,EAW75118,EAW75119,EAW75120,EAW75121,EAW75122,EAW75123,EAW75124,EAW75125,EAW75126,EAW75127,EAW75128,BAE06099 Hs.163893 GDB:9954785 CALM|CLTH|LAP protein-coding 69496 PICK1 protein interacting with PRKCA 1 The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. 1580863 11343649,12138111,10623590,17914463,17606663,17367885,16713569,16314870,15811349,15489334,15461802,15458844,15305146,15304526,14702039,14550765,12941441,12826667,12597860,12578970,12529303,12508107,12477932,12399460,12065412,11891216,11802773,11739374,11641419,11278603,11237868,11007882,10839360,10591208,10340301,9883737,9405395,9373149,8125298,7844141 9463 NM_012407,NM_001039583,NM_001039584,AL031587,CH471095,AB026491,AF231710,AK000875,AK092818,AK222640,AL049654,AL137355,BC017561,CB141073,CN482899,CR456550,CR613255 NP_036539,NP_001034672,NP_001034673,CAB37478,CAQ06640,CAQ06641,CAQ06642,CAQ06643,CAQ06644,EAW60207,EAW60208,EAW60209,EAW60210,EAW60211,EAW60212,EAW60213,BAA89294,AAF97502,BAD96360,CAB41082,AAH17561,CAG30436,Q53HE0,Q9NRD5,CAK54581,CAK54880,ABM84036,ABM87383 Hs.180871 GDB:11501126 MGC15204|PICK|PRKCABP protein that interacts with c kinase 1 protein-coding 1605994 PID1 phosphotyrosine interaction domain containing 1 17124247,16815647,15489334,15221005,14702039,12477932,8889548 55022 NM_001100818,NM_017933,AC006368,AC006375,AC007677,CH471063,AB075874,AK000708,AK096636,AK125359,AY317148,BC040164,BU727693,CR591262,CR613545,DB474424 NP_001094288,NP_060403,AAY14947,AAX88839,EAW70891,BAD38656,BAA91333,BAC86145,AAP79437,AAH40164,Q4ZG81,Q7Z2X4 Hs.409352 FLJ20701|HMFN2073|NYGGF4 protein-coding 1316743 PIF1 PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) PIF1 is a 5-prime-to-3-prime DNA helicase that negatively regulates telomerase (see TERT; MIM 187270), a reverse transcriptase that maintains telomere length (Zhang et al., 2006 [PubMed 16522649]).[supplied by OMIM] 16522649,17827721,17172855,14702039,12477932,10926538 80119 NM_025049,AC091582,CH471082,AB185926,AB185927,AF108138,AK026345,AY498716,BC018978,BC033254,BC137504,DQ437529 NP_079325,EAW77694,EAW77695,EAW77696,BAE47454,BAE47455,AAD44047,BAB15456,AAS77398,AAI37505,ABD92708,Q9H611,Q9Y645 Hs.112160 C15orf20|PIF chromosome 15 open reading frame 20 protein-coding 1607087 PIGA phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria) This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. 16162815,11102867,17823237,16923549,16344560,15687243,15489334,14702039,12477932,12424196,12411324,12130519,12037021,10944123,10087994,9463366,8900170,8557259,8500164,8306954,8193350,8167330,8081362,8081230,7680492,16189514 5277 NM_002641,NM_020473,AC095351,CH471074,D28791,X77729,AK098047,AK290497,BC038236,BM998465,D11466,DA951065,S61523,S74936 NP_002632,NP_065206,EAW98879,EAW98880,EAW98881,EAW98882,EAW98883,EAW98884,BAA05966,BAF83186,AAH38236,BAA02019,AAD13929,AAD14160,P37287 Hs.137154 GDB:138138 GPI3|PIG-A protein-coding 1350762 PIGAP1 phosphatidylinositol glycan anchor biosynthesis, class A, pseudogene 1 8081362 5278 NG_001174,AC010200,X77457 GDB:371739 phosphatidylinositol glycan, class a, pseudogene 1 pseudo 1316334 PIGB phosphatidylinositol glycan anchor biosynthesis, class B This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. 1580863 15489334,16344560,14702039,12477932,12058346,9373149,8125298,7907094,8861954,11102867,18198489 9488 NM_004855,AC018926,CH471082,CQ834302,AK093138,AK223330,BC017711,CR591869,D42138,DA598474 NP_004846,EAW77480,CAH05366,BAD97050,AAH17711,BAA07709,Q92521 Hs.285051 GDB:9956843 MGC21236 phosphatidylinositol glycan, class b protein-coding 1322738 PIGC phosphatidylinositol glycan anchor biosynthesis, class C This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. 1580863 11102867,8806613,16710414,15489334,12655644,12477932,10944123,9463366,9325057,8900170,7566098,16189514 5279 NM_153747,AB000360,CH471067,Z97195,AA372370,AL035301,BC006539,BC063473,NM_002642,BG106700,BT006734,CR450292,CR597603,CR602183,CR606378,CR606898,CR619683,D85418 NP_002633,NP_714969,BAA22866,EAW90925,EAW90926,EAW90927,EAW90928,CAB10071,CAA22906,AAH06539,AAP35380,CAG29288,BAA12812,Q92535,Q9Y476 Hs.188456 GDB:6045444 GPI2|MGC2049 protein-coding 1343508 PIGCP1 phosphatidylinositol glycan anchor biosynthesis, class C, pseudogene 1 9325057 5280 NG_001175,AB000359,AC131263 GDB:6045445 phosphatidylinositol glycan, class c, pseudogene 1 pseudo 1351645 PIGF phosphatidylinositol glycan anchor biosynthesis, class F This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 12477932,8463218,15632136,11102867,17028267,16794222,16702604,16702473,15489334,10781593,8575782,8081220 5281 NM_002643,NM_173074,AC018682,CH471053,D49725,AK291108,BC021725,BC029408,CR457000,CR604721,D13435 NP_002634,NP_775097,AAY14835,EAX00240,EAX00241,EAX00242,EAX00243,EAX00244,EAX00245,BAF83797,AAH21725,AAH29408,CAG33281,BAA02697,Q07326,Q6IB04,ABM83564,ABM86802 Hs.468415 GDB:138466 MGC32646|MGC33136 phosphatidylinositol glycan, class f protein-coding 1347332 PIGFP1 phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 1 8575782 5282 NG_001176,AC104117,D49727 GDB:5218379 phosphatidylinositol glycan, class f, pseudogene 1 pseudo 1603213 PIGG phosphatidylinositol glycan anchor biosynthesis, class G 15632136,11102867,16344560,16303743,15489334,14702039,12975309,12477932 54872 NM_001127178,AC092574,AC116565,CH471131,CQ782750,AB162713,AK000272,AK027465,AK074715,AK074815,AK097244,AW451782,AY358538,BC000937,BC001249,BC050262,BC110878,NM_017733,DA548833 NP_060203,NP_001120650,EAW82663,EAW82664,EAW82665,CAF85981,BAD89023,BAA91046,BAB55130,BAC11157,BAC11227,BAC04984,AAQ88902,AAH00937,AAH01249,AAI10879,Q5H8A4,Q8NCI4 Hs.7099 FLJ20265|FLJ39925|GPI7|LAS21|MGC131903|PRO4405|RLGS1930 protein-coding 1322902 PIGH phosphatidylinositol glycan anchor biosynthesis, class H This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. 1580863 11102867,8900170,15489334,15342556,12477932,9463366,8407896,8204896,16189514 5283 NM_004569,AL132640,CH471061,AI633958,BC004100,BC071849,BP244435,BT006804,CR605373,L19783 NP_004560,EAW80941,EAW80942,AAH04100,AAP35450,AAA03545,Q14442,AAH71849 Hs.553497 GDB:237851 GPI-H protein-coding 1315550 PIGK phosphatidylinositol glycan anchor biosynthesis, class K This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. 1580863 10793132,11483512,1846368,12582175,16710414,16344560,15489334,14702039,12802054,12616539,12477932,12052837,11278620,10727241,9356492,8978684,16189514 10026 NM_005482,AC093433,AC113935,AL035409,CH471059,AF022913,AK055071,BC020737,BC026186,BX648473,CR594196,CR614831,DA263434,Y07596 NP_005473,CAI21819,CAI21820,EAX06380,EAX06381,EAX06382,EAX06383,AAB81597,AAH20737,AAH26186,CAA68871,Q92643 Hs.178305 GDB:9954899 GPI8|MGC22559 protein-coding 1342664 PIGL phosphatidylinositol glycan anchor biosynthesis, class L This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. 1580863 10085243,11102867,15489334,14742432,14702039,12477932,9188481 9487 NM_004278,AC005971,CH471222,AB017165,AI888858,AK023469,AK292932,BC068197,BX404762 NP_004269,EAX04497,EAX04498,BAA74775,BAF85621,AAH68197,Q9Y2B2 Hs.499793,Hs.625050 GDB:9956840 protein-coding 1346161 PIGM phosphatidylinositol glycan anchor biosynthesis, class M This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. 70624,1580863 11102867,16767100,16710414,16303743,15489334,12477932,11226175 70624 93183 NM_145167,AL513302,CH471121,CQ783538,CQ834396,AB028127,AK074655,BC001803,BC011395,BC019865,BX643162,CR602111,CR606417,CR621612,CR624318 NP_660150,EAW52751,EAW52752,CAF86713,CAH05413,BAB18567,BAC11116,AAH01803,AAH19865,Q9H3S5 Hs.552810 GDB:11509008 GPI-MT-I|MGC29896 protein-coding 1322753 PIGN phosphatidylinositol glycan anchor biosynthesis, class N This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. 1580863 10069808,11102867,16344560,16341674,15489334,12477932,10574991,8889548 23556 NM_012327,NM_176787,AC090354,AC090396,CH471096,AF109219,AK000730,AL137607,BC028363,BF112133,BM683126,BM830623,BU739970,CR615107,DB093302,DB239067,BQ023276 NP_036459,NP_789744,EAW63116,EAW63117,EAW63118,EAW63119,AAD11432,CAB70839,AAH28363,O95427 Hs.157031 GDB:10796394 MCD4|MDC4|MGC26427|PIG-N phosphatidylinositol glycan, class n protein-coding 1319869 PIGO phosphatidylinositol glycan anchor biosynthesis, class O This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least two alternatively spliced transcripts encoding distinct isoforms have been found for this gene. 11102867,15489334,15164053,12975309,12477932,12044878,10781593 84720 NM_152850,NM_032634,AB083625,AC004472,AL353795,CH471071,AK074064,AK090433,AL833956,AW149348,AY358472,BC001030,BC013987,BC029271,BC036916,BC065282,BI818120,CD387014 NP_690577,NP_116023,BAB89338,AAC07985,EAW58397,EAW58398,EAW58399,EAW58400,BAB84890,BAC03414,CAD38806,AAQ88836,AAH01030,AAH13987,AAH29271,AAH36916,AAH65282,Q5VYL8,Q8TEQ8 Hs.522099 DKFZp434M222|FLJ00135|MGC20536|MGC3079|RP11-182N22.4 phosphatidylinositol glycan, class o protein-coding 1316260 PIGP phosphatidylinositol glycan anchor biosynthesis, class P This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 11102867,15489334,15221505,12477932,11331941,10944123,10907851,10830953,10814524 51227 NM_153681,AP000704,AP001429,AP001431,AP001727,CH471079,AB035742,AB035743,AB035744,AB035745,AB037162,AB037163,AB037164,NM_153682,AB039659,AF216305,AF237812,AI127387,AK026311,BC005180,BC011007,BE275469,BT007053 NP_710149,NP_710148,BAA95512,EAX09724,EAX09725,EAX09726,EAX09727,EAX09728,BAA95633,BAA95634,BAA95635,BAA95636,BAA96871,BAA96872,BAA96873,BAB12395,AAF32289,AAG09757,AAH05180,AAH11007,AAP35702,P57054 Hs.656565 GDB:10796312 DCRC|DCRC-S|DSCR5|DSRC protein-coding 1347377 PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). 1580863 9729469,11102867,15616553,15489334,15231748,14702039,12477932,11418246,11157797,10944123,10373468,9463366,16189514,8900170 9091 NM_148920,NM_004204,AE006464,CH471112,Z98883,AB003723,AF030177,AK055163,AK092073,BC006377,BC010094 NP_683721,NP_004195,AAK61235,EAW85795,EAW85796,EAW85797,EAW85798,EAW85799,EAW85800,CAB56148,BAA24948,AAC32661,AAH06377,Q9BRB3,ABM83588,ABM86829 Hs.709562 GDB:9954854 GPI1|MGC12693|c407A10.1|hGPI1 protein-coding 737525 PIGR polymeric immunoglobulin receptor The poly-Ig receptor is expressed on several glandular epithelia including those of liver and breast. It mediates transcellular transport of polymeric immunoglobulin molecules. It is a member of the immunoglobulin superfamily (Hood et al., 1985 [PubMed 3917857]). The receptor has 5 units with homology to the variable (V) units of immunoglobulins and a transmembrane region, which also has some homology to certain immunoglobulin variable regions.[supplied by OMIM] 1580863 17353931,2920039,17460948,17428798,16740002,16335952,16288892,16272325,16086865,16048543,15972671,15864740,15530357,15265917,15084671,14660617,14644095,14631119,13679368,12740691,12654638,12546713,12477932,12213814,12186846,12183558,12165516,12121890,11832247,11714807,11579946,11509627,11376148,11034397,11030626,11012775,10809756,10556562,10540352,10229845,10227981,9373149,9237679,9182878,8455639,8125298,7989333,7107583,6526384,3917857,3197448,1940346,1859628,1682231,1355431 5284 A52091,AC098935,AF261083,CH471100,S43449,AF272149,AK225471,AY178835,BC110494,BC110495,CR749533,M24559,S62403,X73079,NM_002644 CAA03384,AAF72193,EAW93515,EAW93516,AAB23176,AAN65630,AAI10495,AAI10496,CAH18339,AAA36102,AAB20203,CAA51532,P01833,Q8TE27,NP_002635 Hs.497589 GDB:120290 MGC125361|MGC125362 protein-coding 1354267 PIGS phosphatidylinositol glycan anchor biosynthesis, class S This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. 1580863 11483512,1846368,15713669,16303743,15489334,14702039,12975309,12802054,12582175,12477932,12052837 94005 NM_033198,AC005726,CH471159,CQ834886,AB057723,AF161427,AK025825,AK055512,AK075428,AK127162,AY359112,BC001319,BC007301,BC069228,BX640839 Q8NBL9,CAE45912,Q6MZW5,Q96IR5,Q96NG1,Q96S52,Q9BVC1,Q9P073,NP_149975,EAW51099,EAW51100,EAW51101,EAW51102,EAW51103,CAH05658,BAB60853,AAF28987,BAB70938,BAC11615,AAQ89470,AAH01319,AAH07301,AAH69228 Hs.462550 GDB:11508446 DKFZp686K20216|FLJ45226 protein-coding 1316180 PIGT phosphatidylinositol glycan anchor biosynthesis, class T This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. 1580863 11483512,15713669,1846368,16516892,16344560,16303743,15489334,12975309,12802054,12655644,12582175,12477932,12052837,11780052,11549316,11483580,10810093,9373149,8125298 51604 NM_015937,AL021578,CH471077,CS051295,AB057724,AF132940,AF305815,AK075469,AK225517,AL121742,AY358588,BC015022,BC110892,BC136828,BX537612,CR593007,CR600435,CR602801,CR604599,CR605919,CR608489,CR614867,CR619784,CR620597,DA037291 NP_057021,CAC18110,CAC36338,CAC36339,EAW75841,EAW75842,EAW75843,EAW75844,EAW75845,EAW75846,CAI72142,BAB60854,AAD27715,AAK55518,BAC11639,CAB57341,AAQ88951,AAH15022,AAI10893,AAI36829,CAD97799,Q969N2,Q96JR8 Hs.437388 GDB:11508701 CGI-06|FLJ41596|MGC8909|NDAP phosphatidylinositol glycan, class t protein-coding 1352875 PIGU phosphatidylinositol glycan anchor biosynthesis, class U The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. 1580863 12802054,1846368,11483512,15034568,16303743,15489334,14660601,12975309,12477932,11780052 128869 NM_080476,AL118520,CH471077,AB086842,AK075507,AY339061,AY358816,AY422169,BC030512,CR591905,CR610914,CR624769 NP_536724,CAC14080,CAI40292,EAW76259,EAW76260,EAW76261,EAW76262,BAC53626,BAC11660,AAQ18022,AAQ89175,AAR23798,AAH30512,Q9H490 Hs.253319 GDB:11505726 CDC91L1|GAB1|MGC40420 protein-coding 1349310 PIGV phosphatidylinositol glycan anchor biosynthesis, class V Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. The biosynthetic pathway of GPI is mediated by sequential addition of sugars and other components to phosphatidylinositol. PIGV adds the second mannose to the GPI core (Kang et al., 2005 [PubMed 15623507]).[supplied by OMIM] 1580863 15623507,15720390,11102867,16710414,15489334,14702039,12477932,9373149,8125298 55650 NM_017837,AL034380,CH471059,CQ834324,CQ834446,CQ834448,AK000484,AK056539,AK225521,BC013568,CR599392,CR609465,CR625962 NP_060307,CAB92120,CAI21625,CAI21626,CAI21627,EAX07790,EAX07791,EAX07792,CAH05377,CAH05438,CAH05439,BAA91196,AAH13568,Q9NUD9 Hs.259605 FLJ20477|RP1-50O24.2 protein-coding 1352879 PIGW phosphatidylinositol glycan anchor biosynthesis, class W Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (Murakami et al., 2003 [PubMed 14517336]).[supplied by OMIM] 1299613,1580863 14517336,11102867,14702039,12714589 1299613 284098 NM_178517,AC126327,CH471199,AB097818,AK094752 NP_848612,EAW57563,EAW57564,BAC77021,BAC04413,Q7Z7B1,AAI56434,AAI60092 Hs.378885 FLJ37433|Gwt1 protein-coding 1343989 PIGX phosphatidylinositol glycan anchor biosynthesis, class X Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGX is a subunit of a GPI mannosyltransferase complex involved in the synthesis of the core GPI structure in the endoplasmic reticulum (ER) (Ashida et al., 2005 [PubMed 15635094]).[supplied by OMIM] 11102867,15635094,15489334,15146197,14702039,12477932 54965 NM_017861,AC055725,CH471191,AA879458,AK000529,BC022542,BG715890,BQ130655,CN404010 NP_060331,EAW53638,EAW53640,BAA91233,AAH22542,Q8TBF5 Hs.223296 FLJ20522 protein-coding 1605909 PIGY phosphatidylinositol glycan anchor biosynthesis, class Y This gene encodes two proteins, one of which is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. Two open reading frames have been found in the single transcript that has been identified for this gene. The downstream open reading frame encodes the GPI-GnT complex protein while the upstream open reading frame encodes a protein with unknown function. 16162815,15489334,12477932 84992 NM_001042616,NM_032906,AC083829,CH471057,AB206972,BC007876,CR594961,CR597093,CR597941,CR599419,CR600628,CR608763,CR612575,DB519150 NP_001036081,NP_116295,EAX06021,BAE44507,AAH07876,Q3MUY2,Q96I23 Hs.26136 MGC14156|PIG-Y protein-coding 1602097 PIGZ phosphatidylinositol glycan anchor biosynthesis, class Z The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. 14702039,12655644,12477932,12200473,11356840,15208306,15489334 80235 NM_025163,AC011322,CH471191,AK022830,BC018804,BC044640,CR601084 NP_079439,EAW53618,BAB14263,AAH44640,Q86VD9 Hs.518403 FLJ12768|GPI-MT-IV|MGC52163|SMP3 protein-coding 1347899 PIH pregnancy-induced hypertension (pre-eclampsia, eclampsia, toxemia of pregnancy included) 1550119 5285 GDB:128550 1605995 PIH1D1 PIH1 domain containing 1 16189514,15670595,12477932 55011 NM_017916,AC010619,CH471177,AK000650,BC001108,CR591090,CR592919,CR595455,CR597787,CR599690,CR605095,CR606142,CR606627,CR611670,CR620618,CR626084 NP_060386,EAW52486,EAW52487,BAA91307,AAH01108,Q9NWS0 Hs.5245 FLJ20643|NOP17 protein-coding 1605009 PIH1D2 PIH1 domain containing 2 12477932,8889548 120379 Q8WWB5 NM_138789,NM_001082619,AP000907,CH471065,AI339257,BC019238,CA312666,CB159963,CR622263 NP_620144,NP_001076088,EAW67177,AAH19238,Q8WWB5 Hs.420662 protein-coding 1317115 PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 16381901,15893754,15489336,14702039,12477932,11230166,11163197,11076863,1251844 118788 BX648550,CB990570,CR610410,NM_152309,AL138765,AL358235,AL591364,CH471066,AI826732,AK092883,AK122584,AK125635,BC029917 AAH29917,Q0JU64,Q5VTR6,Q5VTR7,Q6ZUJ8,Q86YV3,Q8N6J6,Q8NAC8,CAL37947,NP_689522,CAI13579,CAI13581,CAI13586,CAH71154,CAH73440,CAH73441,EAW49968,EAW49969,BAC03996,BAC56925,BAC86227 Hs.310456 BCAP|RP11-34E5.3 protein-coding 1321266 PIK3C2A phosphoinositide-3-kinase, class 2, alpha polypeptide The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. 1580863 17038310,16215232,15183893,14729612,14602571,14563213,12719431,12477932,12237112,12077252,11994280,11606566,11306805,11239472,11156964,11154208,10805725,10766823,10329640,9708406,9603905,9446795,9394803,8798481,10641798,9337861,17644513,17110375 5286 A89694,AC116533,AC126389,CH471064,NM_002645,AL049998,BC031681,BC040952,BC113658,BX648778,Y13367 CAB69383,EAW68447,NP_002636,AAI13659,CAA73797,O00443 Hs.175343 GDB:9837702 CPK|DKFZp686L193|MGC142218|PI3-K-C2(ALPHA)|PI3-K-C2A protein-coding 1315215 PIK3C2B phosphoinositide-3-kinase, class 2, beta polypeptide The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. 1580863 9830063,10805725,16775008,16710414,16314532,16271833,16113997,14602571,14563213,12477932,12372612,12356726,12077252,11994280,11533253,11156964,11154208,9708406,9446795,9394803,9223670,9144573,8798481,8084603,17157319,16524887,9808187,15689238,12960231,12551992,16081599,9341793,15778465 5287 NM_002646,AL606489,CH471067,AB210006,BC094741,BC132876,CR608190,CR749201,Y11312,Y13892 NP_002637,CAI16571,CAI16572,CAI16573,CAI16574,EAW91513,EAW91514,BAE06088,AAI32877,CAH18059,CAA72168,CAA74194,O00750,Q4LE65,Q5SW97,Q5SW98,Q68E11 Hs.497487 GDB:9837703 C2-PI3K|DKFZp686G16234 protein-coding 735800 PIK3C2G phosphoinositide-3-kinase, class 2, gamma polypeptide The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The biological function of this gene has not yet been determined. 1580863 9878262,9394803,8798481,14602571,12077252,11994280,11156964,11154208,9708406,9516481,9514948,9446795 5288 O75747 NM_004570,AC087236,AC087240,AC091815,AC092851,CH471094,AJ000008,BC130277 NP_004561,EAW96387,CAA03853,AAI30278,O75747 Hs.22500 GDB:9837705 MGC163149|PI3K-C2GAMMA phosphatidylinositol 3-kinase, c2 domain containing, gamma polypeptide protein-coding 732994 PIK3C3 phosphoinositide-3-kinase, class 3 1300048 7628435,7504174,14751759,18420347,18077426,18048384,17319803,16874027,16390869,16176982,16049009,15489334,15324660,15121481,14702039,14617358,14602571,12925680,12477932,12077252,11994280,11156964,11154208,9708406,9446795,9394803,8999962,8889548,8798481,16081599,17157319,16524887,9808187,15689238,12960231,12551992,9341793 5289 NM_002647,AC087683,CH471088,AK022653,AK090567,BC010388,BC033004,BC053651,BI562123,CA945171,Z46973 NP_002638,EAX01426,AAH33004,AAH53651,CAA87094,Q8NEB9,ABM92169,ABM84638 Hs.464971 GDB:9837706 MGC61518|Vps34 phosphatidylinositol 3-kinase protein-coding 1352691 PIK3CA phosphoinositide-3-kinase, catalytic, alpha polypeptide Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. 1580863,2290458,2290476 2174051,10648629,10490823,12167717,12660731,18371219,18355852,18285463,18262558,18224685,18216097,18183466,18180098,18097548,18084252,18079394,18070887,18064631,17376864,17369495,17363507,17341442,17317825,17314276,17307335,17235514,17219054,17202311,17141917,17062663,17060456,17052259,17050665,17006756,16968743,16949921,16930767,16885334,16840732,16839745,16837650,16822308,16820791,16815198,16790501,16788758,16778113,16775835,16764926,16728507,16682946,16627990,16618717,16582596,17377809,18022911,18000091,17990317,17986027,17982280,17971428,17947469,17942548,17936563,17924977,17923698,17877460,17875942,17855350,17827385,17803655,17681398,17673550,17669465,17657213,17635910,17601799,17590872,17586693,17575221,17549376,17546593,17507466,17487277,17471559,17468516,17449641,17426084,16569657,16533766,16522324,16432179,16406609,16397024,16380997,16376301,16353168,16344560,16341083,16339315,16339173,16322209,16317585,16288007,16287065,16203798,16168105,16150444,16150119,16114017,16034135,15994075,15950905,15930273,15928251,15924253,15837735,15805248,15784156,15712344,15647370,15632060,15605984,15520168,15489334,15467468,15289301,15254419,15016963,14729945,14602571,12704201,12477932,12077252,11994280,11959846,11912194,11676480,11334418,11278864,11156964,11154208,10921882,10358930,10213474,9916799,9708406,9446795,9415396,9394803,9150145,9113989,9043658,8798481,8702949,8665852,8020561,7929193,7820549,7713498,1322797,16524887,17157319,9808187,15689238,12960231,12551992,16081599,9341793,10985305,12584329,12526811,11289809,10208934,9247029,8636073,12754211,12893243,12954600,12890670,14583609,14724584,15213298,8663231,8641358,10608806,11606067,15834429,15664519 2290458,2290476 5290 NM_006218,AC076966,CH471052,AB210020,AK292940,AU129890,AW445128,BC113601,BC113603,BQ228953,BX437219,BX473473,BX484734,DQ910907,U79143,Z29090 NP_006209,EAW78423,BAE06102,BAF85629,AAI13602,AAI13604,ABI95433,AAB39753,CAA82333,P42336,Q4LE51 Hs.553498,Hs.699435 GDB:370915 MGC142161|MGC142163|PI3K|p110-alpha protein-coding 732496 PIK3CB phosphoinositide-3-kinase, catalytic, beta polypeptide Phosphoinositide 3-kinases (PI3Ks) phosphorylate the 3-prime OH position of the inositol ring of inositol lipids. They have been implicated as participants in signaling pathways regulating cell growth by virtue of their activation in response to various mitogenic stimuli. PI3Ks are composed of a 110-kD catalytic subunit, such as PIK3CB, and an 85-kD adaptor subunit (Hu et al., 1993 [PubMed 8246984]).[supplied by OMIM] 1580861,1580863,1300048,2290458 10570282,12660731,18398029,18327411,18285463,17986385,17977952,17676480,17522703,16432180,16380997,16339315,16091017,15582274,15489334,15468162,15242975,14602571,12529960,12507995,12502714,12502677,12477932,12077252,12029088,11994280,11916960,11752399,11676480,11459796,11156964,11154208,10358930,9822674,9708406,9446795,9394803,8798481,8246984,8139559,7479742,2174051,16524887,17157319,9808187,15689238,12960231,12551992,16081599,9341793,15834429,15664519 1580861,2290458 5291 NM_006219,AC020890,AC117389,AJ297549,CH471052,BC003393,BC022049,BC114432,CR749357,S67334 NP_006210,CAC21449,EAW79053,EAW79054,EAW79055,EAW79056,AAH03393,AAH22049,AAI14433,CAH18210,AAB29081,P42338,Q68DL0,Q6PJ60,Q9BTS4 Hs.239818 GDB:136233 DKFZp779K1237|MGC133043|PI3K|PI3KCB|PI3Kbeta|PIK3C1|p110-BETA phosphatidylinositol 3-kinase, catalytic subunit, beta isoform protein-coding 1322205 PIK3CD phosphoinositide-3-kinase, catalytic, delta polypeptide Phosphoinositide 3-kinases (PI3Ks) phosphorylate the 3-prime OH position of the inositol ring of inositol lipids. See MIM 602838. The class I PI3Ks display a broad phosphoinositide lipid substrate specificity and include p110-alpha (MIM 171834), p110-beta (MIM 602925), and p110-gamma (MIM 601232). p110-alpha and p110-beta interact with SH2/SH3-domain-containing p85 adaptor proteins (see MIM 171833) and with GTP-bound Ras.[supplied by OMIM] 1580863,2290458 15878979,15840695,15146197,14602571,12594293,12477932,12077252,11994280,11156964,11154208,10064595,9708406,9455486,9446795,9235916,9113989,17581634,17290298,17015696,16984281,16432180,9394803,8889549,8798481,16524887,9808187,15689238,17157319,12960231,12551992,16081599,9341793,12774123 2290458 5293 NM_005026,AL691449,CH471130,AB208835,BC030263,BC132919,BC132921,BC150297,CN313981,DQ263594,DQ263595,DQ263596,U57843,U86453,W30913,Y10055 NP_005017,CAI15702,CAI15703,EAW71622,EAW71623,EAW71624,EAW71625,EAW71626,EAW71627,BAD92072,AAI32920,AAI32922,AAI50298,ABB83814,ABB83815,ABB83816,AAB53966,AAC25677,CAA71149,O00329,O00334,Q1WIQ9,Q1WIR0,Q59HC4,Q5SR50 Hs.518451 GDB:6268330 p110D protein-coding 1315103 PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide This gene encodes a protein that belongs to the pi3/pi4-kinase family of proteins. The gene product is an enzyme that phosphorylates phosphoinositides on the 3-hydroxyl group of the inositol ring. It is an important modulator of extracellular signals, including those elicited by E-cadherin-mediated cell-cell adhesion, which plays an important role in maintenance of the structural and functional integrity of epithelia. In addition to its role in promoting assembly of adherens junctions, the protein is thought to play a pivotal role in the regulation of cytotoxicity in NK cells. The gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. 1580863,1641794,1642432,1642429,1642433,1642394 7624799,11136978,18187452,18079201,18025271,17998459,17971428,17901375,17900864,17878755,17855501,17724079,17716861,17681345,17658464,17646933,17551921,17515959,17497700,17459875,17410437,17375124,17303701,17302605,17290298,17286201,17235455,17173040,17158252,17126402,17045571,17008323,17001038,16943418,16772787,16533525,16527821,16507111,16432180,16430866,16328013,16325767,16291747,16286246,16219695,16204373,16094730,15993382,15932879,15901830,15878979,15845472,15797027,15741161,15733066,15678501,15668028,15611065,15582274,15558024,15543611,15496972,15489334,15326564,15046613,15044087,15001544,14622970,14605879,14602571,14583609,13130092,12853948,12757856,12690205,12606772,12551992,12545160,12529294,12507995,12502714,12477932,12473596,12464013,12435806,12242282,12163475,12115604,12077252,11994280,11861293,11756422,11756194,11577104,11416136,11259422,11238738,11156964,11154208,10972292,10816567,10580505,10579793,10542052,10488142,10386953,10358071,10318860,9708406,9507010,9446795,9446654,9394803,8798481,8313897,7520444,16524887,9808187,15689238,17157319,12960231,16081599,9341793,12774123,8663231,9747873,7606002,16189514,10571082,15664519,8641358 1641794,1642432,1642429,1642433,1642394 5294 NM_002649,AC005018,CH236947,CH471070,AF327656,AK292684,AY496423,BC035683,BX648341,X83368 NP_002640,AAQ96873,EAL24396,EAW83387,EAW83388,EAW83389,AAG61115,BAF85373,AAS75801,AAH35683,CAA58284,P48736,Q24M88 Hs.32942 GDB:370920 PI3CG|PI3K|PI3Kgamma|PIK3 protein-coding 1605305 PIK3IP1 phosphoinositide-3-kinase interacting protein 1 17475214,16303743,15489334,15461802,15340161,14702039,12529303,12477932,10591208,8889548 113791 NM_052880,AC002073,CH471095,AF528079,AF528080,AK074688,AK093768,AK226089,BC011049,BC041903,BE299406,BQ718653,BU681979,CR456340,CR599785,CR607511,CR608796,CR612099,CR612619,CR623813,CR626709 NP_443112,AAB54054,EAW59960,EAW59961,EAW59962,EAW59963,EAW59964,AAO33762,AAO33763,BAC11140,AAH11049,AAH41903,CAG30226,Q96FE7 Hs.26670 HGFL|MGC17330|hHGFL(S) protein-coding 731958 PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in three transcript variants encoding different isoforms. 1625212,1625220,1625262,1625218,737788,1625215,1625216,737789,1625211,1299201,2290476,2290458 10572067,8440175,7537849,8276809,7541045,14699157,9356464,10648629,11606067,12167717,12660731,18335044,18328427,18249389,18245521,18227218,18079394,17890432,17827393,17570359,17486587,17442886,17404186,17302605,17242350,17214991,17038539,17016694,17013094,17006756,16921024,16844778,16787925,16644730,16491394,16412560,16377635,16306077,16289966,16230374,16228294,16168140,15951569,15932879,15910625,15872086,15826941,15809724,15741161,15629149,15536084,15490304,15489334,15388330,15351743,15324660,15192701,15127203,15117958,15016818,15007072,14769856,14729945,14702039,14602571,14597629,14551916,12933816,12878163,12774123,12714585,12668683,12644569,12637493,12588990,12582030,12538575,12529960,17242406,12477932,12454018,12397383,12393736,12359715,12220227,12210743,12186904,12185156,10377409,10373529,10358930,10358777,10339567,10212255,10187839,10097090,10086340,10068651,10022833,9918857,9892650,9852124,9801792,9774657,9774384,9708406,9687533,9632636,9610355,9564850,9489702,9461588,9461587,9446795,9446654,9435577,9394803,9381982,9373149,9360994,9312149,9178903,9178760,9139718,9113989,9079809,9032108,8962058,8961927,8947469,8918688,8918464,8916957,8798481,8766817,8702949,8702385,8697095,8670861,8662998,8649427,8648629,8647200,8631888,8628286,8621719,8621607,8599763,8394019,10383151,8385099,8384556,8313897,8253717,8246987,8139559,8125298,8034624,7807015,7759531,7737969,7737275,7681364,7662955,7642542,7629060,7592789,7559499,7537362,7537275,7537265,7528218,7522165,7513258,7509796,7504174,1849461,1648445,1383690,1381348,1372092,1351056,1336372,1314371,2174051,16524887,15689238,17157319,12960231,12551992,16081599,10422873,10358157,9123823,9808187,9341793,15638726,14965316,12734410,11689886,12704201,12173038,12112020,12107746,12086876,12077252,12052866,12029088,12009866,11994280,11986952,11940581,11912194,11865050,11855827,11850823,11842213,11812000,11741599,11739737,11716761,11711534,11689561,11689445,11604231,11567151,11546794,11526404,11375989,11341978,11337495,11313349,11278378,11163197,11156964,11154208,11136977,11133830,11094073,11087752,11071869,11029009,10995743,10970851,10967104,10921882,10899172,10806474,10799562,10797305,10768093,10723796,10697503,10652352,10627473,10542297,10527852,10521483,10477752,10467411,10459020,10455176,10437794,10487518,7537361,9891995,7929193,7982920,15735664,8810341,7689147,12470648,8603569,7657594,7876130,7689724,8388538,8294442,8641358 1625212,1625262,1625218,737788,1625215,1625216,737789,1625211,1299201,2290476,2290458 5295 NM_181523,NM_181524,NM_181504,AC016564,CH471137,AF279367,AI124626,AI334281,AK000121,AK094785,AK126345,AK223613,AW630519,BC030815,BC094795,BE888150,BQ723333,CA427864,CB216668,M61906,U49349 NP_852664,NP_852665,NP_852556,EAW51311,EAW51312,EAW51313,AAO15359,BAD97333,AAH30815,AAH94795,AAB04140,P27986 Hs.132225,Hs.604502 GDB:127604 GRB1|p85|p85-ALPHA phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 protein-coding 1345924 PIK3R1OS phosphoinositide-3-kinase, regulatory subunit 1, opposite strand 404543 68478 PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 1580863,2290458 12029088,12660731,17881440,15951569,15826941,15592455,15536084,15489334,15324660,15117958,15057824,14602571,12477932,12077252,12052866,11994280,11172806,11160222,11156964,11154208,11120660,10594015,10459020,10022833,9708406,9651378,9582025,9446795,9435577,9394803,9228082,9178760,9113989,9092574,8798481,8662998,8080844,7982920,7629144,7592789,7559478,7541045,7537096,7509360,2174051,1334406,1314371,16524887,10422873,10358157,9123823,9808187,15689238,17157319,12960231,12551992,16081599,9341793,16729043,12470648 2290458 5296 NM_005027,AC007192,CH471106,BC011917,BC014170,BC032647,BC070082,BC090249,X80907 NP_005018,AAD22671,EAW84659,EAW84660,AAH11917,AAH14170,AAH32647,AAH70082,AAH90249,CAA56868,O00459,Q96CK7,Q96EV4 Hs.371344 GDB:132614 P85B|p85|p85-BETA phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 protein-coding 1353925 PIK3R3 phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 1580863,2290458 9524259,8647200,17452746,17360667,14702039,12588990,12477932,10417350,9415396,9178903,8619474,7542745,16189514,12470648,11172806 2290458 8503 NM_001114172,AL358075,CH471059,AF028785,AK123886,AK313726,BC005381,BC021622,BC094768,BX507484,BX537388,CR749649,D88532,U90907,Y13809,NM_003629 NP_003620,NP_001107644,CAI21701,CAI21702,CAI21703,EAX06943,EAX06944,EAX06945,EAX06946,EAX06947,AAC39696,BAG36468,AAH05381,AAH21622,CAD97630,CAH18443,BAA13636,CAB52195,Q05DQ0,Q5T4P1,Q5T4P2,Q68CY7,Q5T4P3,Q7Z3W2,Q8N381,Q92569,Q9UMI3,ABM82715,ABM85897 Hs.655387 GDB:9955506 DKFZp686P05226|FLJ41892|p55|p55-GAMMA protein-coding 1323457 PIK3R4 phosphoinositide-3-kinase, regulatory subunit 4 1580863 8999962,14751759,15489334,15342556,15324660,12686597,12477932,12388762 30849 NM_014602,AC097105,AC128683,CH471052,BC009899,BC017332,BC057239,BC069191,BC110318,BC127105,BC127106,BP359657,Y08991 NP_055417,EAW79222,AAI10319,AAI27106,AAI27107,CAA70176,Q99570 Hs.149032 GDB:10796257 MGC102700|VPS15|p150 protein-coding 1346928 PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5 Receptor-regulated class I phosphoinositide 3-kinases (PI3Ks) phosphorylate the membrane lipid phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to PtdIns(3,4,5)P3, which in turn recruits and activates cytosolic effectors involved in proliferation, survival, or chemotaxis. PIK3R5 is a PI3K regulatory subunit (Brock et al., 2003 [PubMed 12507995]).[supplied by OMIM] 737633,1580863 17486067,15797027,15611065,15489334,12507995,12477932,10488142,10358071,16189514 737633 23533 NM_014308,AC003695,CH471108,AB028925,AF128881,AY725851,AY725852,AY725853,AY725854,BC028212 NP_055123,EAW90035,EAW90036,EAW90037,BAB82464,AAD33397,AAW63121,AAW63122,AAW63123,AAW63124,AAH28212,Q8WYR1 Hs.278901 F730038I15Rik|FOAP-2|P101-PI3K|p101 protein-coding 1353016 PIK3R6 phosphoinositide-3-kinase, regulatory subunit 6 Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. 16476736,16344560,15797027,14702039,12477932 146850 NM_001010855,AC003695,AC009451,CH471108,AK091819,AL833037,AY753192,BC110301,BC125169,DA585264 NP_001010855,EAW90038,EAW90039,EAW90040,EAW90041,CAH56340,AAV30085,AAI25170,Q5UE93,AAI66645 Hs.255809 C17orf38|DKFZp666P158|FLJ34500|HsT41028|p84|p87(PIKAP)|p87PIKAP chromosome 17 open reading frame 38 protein-coding 1318381 PILRA paired immunoglobin-like type 2 receptor alpha Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. 10903717,18358807,18097101,15489334,15085135,12690205,12477932,10660620 29992 NM_013439,NM_178272,NM_178273,AC005071,CH236956,CH471091,AF161080,AJ400841,AJ400842,AJ400843,BC017812,BF432841 NP_038467,NP_840056,NP_840057,EAL23835,EAL23836,EAL23837,EAW76542,EAW76543,EAW76544,EAW76545,AAD52964,CAC01613,CAC01614,CAC01615,AAH17812,Q9UKJ1 Hs.444407 FDF03 protein-coding 1603396 PILRB paired immunoglobin-like type 2 receptor beta Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the non-ITIM-bearing member of the receptor pair, which has a truncated cytoplasmic tail relative to its ITIM-bearing partner and functions in the activating role. Alternative splicing has been observed at this locus and three variants, encoding two distinct isoforms, are described. Additional transcript variants have been identified but their full-length nature has not been determined. 10660620,16926269,15498874,15489334,14702039,12477932,10903717,14667819,15381729 29990 NM_175047,NM_013440,NM_178238,AC005071,CH236956,CH471091,AF161081,AF217981,AJ400845,AJ400846,AK056412,AK074039,AL834317,AL834336,BC040122,BC050547,DQ851871,DQ851872,DQ851874,DQ851875,DQ851876,DQ851877,DQ851878,DQ851879,DQ851880,DQ851881,DQ851883,DQ851885 NP_778212,NP_038468,NP_839956,EAW76551,AAD52965,AAG17224,CAC19193,CAC19194,BAB84865,CAH10714,CAH10711,AAH50547,Q8TET2,Q9UKJ0 Hs.632314 FDFACT1|FDFACT2 protein-coding 737516 PIM1 pim-1 oncogene The protooncogene PIM1 encodes a protein kinase upregulated in prostate cancer (Dhanasekaran et al., 2001 [PubMed 11518967]).[supplied by OMIM] 1580863 1825810,16186805,18056989,2682662,18216297,18037896,17855660,17643117,17560648,17487358,17476282,17448597,17327400,17313559,16712793,16684349,16647097,16508102,16403219,16356754,16266891,16227208,16221667,15808862,15798097,15721354,15657054,15528381,15525646,15489334,15471855,15319445,15264249,14981536,13679438,12680209,12477932,12431783,12411508,12111331,12036885,11823475,11591366,11518967,11460166,11368509,11279102,11237709,10931201,10664448,10373478,9809063,3475233,3429489,3329709,2837645,2205533,1427894 5292 AF386792,NM_002648,AL353579,CH471081,M27903,BC020224,CR591847,DQ022562,M16750,M24779,M54915 NP_002639,AAK70871,CAI20316,EAX03934,EAX03935,AAA60090,AAH20224,AAY87461,AAA60089,AAA81553,AAA36447,P11309,Q5T7H7 Hs.81170 GDB:119495 PIM proviral integration site 1 protein-coding 1347613 PIM2 pim-2 oncogene PIM2 belongs to a family of protooncogenes that encode serine/threonine protein kinases (Mikkers et al., 2004 [PubMed 15199164]).[supplied by OMIM] 1580863 9804974,18216297,16403219,16015593,15721354,15548703,15489334,15291354,15199164,12954615,12477932,16189514 11040 NM_006875,AB042425,AF207550,CH471224,CQ834174,CQ834176,AK290931,BC018111,CR595611,CR600151,U77735 NP_006866,BAA95613,EAW50729,EAW50730,CAH05302,CAH05303,BAF83620,AAH18111,AAC78506,Q9P1W9,ABM82262,ABM85444 Hs.496096 GDB:9956263 protein-coding 1344275 PIM3 pim-3 oncogene PIM3 belongs to a family of protooncogenes that encode serine/threonine protein kinases (Mikkers et al., 2004 [PubMed 15199164]).[supplied by OMIM] 737633,1580863 16403219,15540201,15489334,15199164,12798037,12477932,10713710 737633 415116 NM_001001852,BX539320,CH471138,CR536608,AB114795,AK292005,BC017083,BC052239,BC064477,BC141855 NP_001001852,EAW73485,CAO03523,BAD42438,BAF84694,AAH64477,AAI41856,Q6P2J9,Q86V86,AAI40031 Hs.530381 pim-3 protein-coding 1321121 PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 The human PIN1 gene encodes an essential nuclear peptidylprolyl cis-trans isomerase (PPIase; EC 5.2.1.8) involved in regulation of mitosis. PIN1 belongs to a class of PPIases that includes the E. coli parvulin, yeast Ess1, and Drosophila dodo (dod) gene products (Lu et al., 1996 [PubMed 8606777]).[supplied by OMIM] 1580863 16139797,16124054,16123044,16095818,16024801,15964795,15950321,15867923,15701524,15664191,15489334,15474361,15175157,15111319,14967043,14702039,14690596,14572447,14559993,12881709,12792768,12721297,12686540,12579289,12540053,12477932,12410395,12397362,12397361,12388558,12153046,12101225,10393805,10037602,9482729,9299231,9200606,8552658,17353931,9499405,11805292,11988841,11978535,11940573,11787050,11774038,11741599,11575923,11533658,11432833,11356192,10939594,10932246,10888662,10504341,11470801,10391244,8606777,18294451,18188456,18062707,18039859,18007120,18006688,17938171,17906639,17766376,17681194,17626162,17624454,17482359,17468107,17466629,17355867,17334375,17317113,17316687,17163675,17082615,16972081,16907857,16865250,16820873,16713569,16701948,16697218,16476580,16449657,16428447,16384626,16273101,16227615,16189514,16169070 5300 NM_006221,AC008752,AF501321,CH471106,AF086512,AK092970,AK097558,AK291074,BC002899,BC031971,BI827520,BT019331,CR407654,CR599044,CR608466,CR625469,U49070 NP_006212,AAM81970,EAW84057,EAW84058,EAW84059,BAF83763,AAH02899,AAH31971,AAV38138,CAG28582,AAC50492,Q13526,Q49AR7,Q8NFL2,ABM83904,ABM87225 Hs.465849 GDB:5218381 DOD|UBL5 protein (peptidyl-prolyl cis/trans isomerase) nima-interacting 1|protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1 protein-coding 1354255 PIN1L peptidylprolyl cis/trans isomerase, NIMA-interacting 1-like (pseudogene) 16710414,9299231 5301 XR_017802,XR_040597,XR_017814,AL391728,U82382 AAB81333,O15428 Hs.654711 GDB:5218382 protein (peptidyl-prolyl cis/trans isomerase) nima-interacting 1-like pseudo 1347401 PIN1L2 protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1-like 2 5109 GDB:9864389 1348368 PIN3 protein, NIMA-interacting 3 8606777 5302 GDB:9864390 1345088 PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 1580863 10100858,10364457,17875217,16522211,15489334,12860119,12477932,12144781,11960984,11337467,11162102,10966801 5303 BC005234,BC070288,BC093700,BC104653,BC111394,BC112281,NM_006223,AL135749,BX119917,CH471213,AB009690,AF143096,AK127605,AU098526 AAH05234,AAH70288,AAH93700,AAI04654,AAI11395,AAI12282,Q0D2H3,Q3MHV0,Q52M21,Q5HYW4,Q5HYW6,Q6IRW4,Q9Y237,NP_006214,CAI39855,CAI39856,EAW71812,BAA82320,AAD27893 Hs.655623 GDB:9864391 EPVH|MGC138486|PAR14|PAR17 protein (peptidyl-prolyl cis/trans isomerase) nima-interacting, 4 (parvulin) protein-coding 1314001 PINK1 PTEN induced putative kinase 1 This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. 2290300 16769864,16710414,16700027,16672981,16632486,16547921,16482571,16354302,16257123,16226715,16207731,16157901,16079129,16046032,16009891,15970950,15955954,15955953,15876334,15824318,15596610,15542245,15505171,15505170,15489334,15349870,15349860,15349859,14702039,12548371,14607334,15087508,18486522,18378882,18330912,18272063,18211709,18031932,18003639,17989306,17960343,17950257,17724286,17707122,17567565,17557243,17362513,17219214,17202228,17172567,17154281,17141510,17084972,17055324,17017532,17013904,17000703,16969854,16966503,16805805,12548343,12477932,12447943,11494141,11254447 2290300 65018 NM_032409,AL391357,CH471134,AB053323,AF316873,AK075225,AK130746,BC009534,BC028215,CR597726,CR601045 NP_115785,CAH73475,EAW94934,EAW94935,BAB55647,AAK28062,BAC11484,AAH09534,AAH28215,Q9BXM7,ABM81959,ABM84256,ABM85138,ABM87645 Hs.389171 GDB:11507403 BRPK|FLJ27236|PARK6 protein-coding 1606271 PINX1 PIN2-interacting protein 1 12107183,11701125,16189514,17353931,11003615,15637589,15489334,15381700,15044100,14984932,14702039,12508358,12477932,12439923 54984 NM_017884,AC011008,AC105001,AY262278,CH471157,AF205718,AF418553,AJ344104,AY238941,AY523566,BC015479,BC043573,BC093762,CR591056,CR601705,CR620063 NP_060354,AAP12532,EAW65595,EAW65596,EAW65597,AAG18009,AAN31333,CAC51436,AAP37006,AAS19507,AAH15479,AAH93762,Q6QWG9,Q96BK5 Hs.490991,Hs.583894 FLJ20565|LPTL|LPTS|MGC8850 protein-coding 1351325 PIP prolactin-induced protein 1580863 2013294,17353931,18251583,16740002,15489334,12755619,12690205,12477932,11992405,11133986,10820003,10713110,9218538,9074931,3667631,2727805,1955075,15632136,10072505,9724097,16189514 5304 NM_002652,AC093659,CH236959,CH471198,X51501,BC010950,BC010951,CD723133,J03460,Y10179 NP_002643,EAL23781,EAW51887,CAA35870,AAH10950,AAH10951,AAA60091,CAA71252,A0A963,A0A9C3,A0A9F3,P12273 Hs.99949 GDB:120292 GCDFP-15|GCDFP15|GPIP4 protein-coding 1603404 PIP3-E phosphoinositide-binding protein PIP3-E 11919282,11320098,14702039,12920129,12477932,11804589,9455477 26034 AL033376,NM_015553,AL132774,AL445220,CH471051,AB007863,AJ310566,AK093997,AK289917,BC105015,BC105043,BX647254 NP_056368,CAI20459,CAH72408,EAW47701,EAW47702,BAA23699,CAC83949,BAF82606,AAI05016,AAI05044,CAI46054,Q8WWN9 Hs.146100 IPCEF1|KIAA0403|RP3-402L9.2 protein-coding 734348 PIP4K2A phosphatidylinositol-5-phosphate 4-kinase, type II, alpha Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. 1580863 7639683,18314871,17555944,17410640,16823801,16801950,16094259,15489334,15164054,15046600,14702039,14614854,14614850,14582145,12509423,12477932,9367159,8869744,7852364,7629060 5305 NM_005028,AL157707,AL390318,AL513128,CH471072,AK023329,BC018034,CR616529,DB504104,S78798,U14957 NP_005019,CAI39583,CAI39584,CAI39585,CAH70526,CAH72211,EAW86140,EAW86141,AAH18034,AAB35041,AAA64835,P48426 Hs.57079 GDB:6381309 FLJ13267|PI5P4KA|PIP5K2A|PIP5KII-alpha|PIP5KIIA|PIPK protein-coding 736672 PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. 12136098,9843587,9753329,9367159,16189514,9038203,17303380,16713569,15489334,15046600,14691457,14614850,12477932 8396 NM_003559,AC006449,AJ331087,CH471152,AI333549,BC027459,BC073896,BC094858,BM991982,BT019614,CR590530,U85245 NP_003550,EAW60532,EAW60533,EAW60534,EAW60535,EAW60536,AAH27459,AAV38420,AAB48596,P78356 Hs.260603 GDB:9865029 PI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta protein-coding 733243 PIP4K2C phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 1580863 18255255,15046600,14614850,12477932,9373149,9367159,8125298 79837 NM_024779,AC022506,CH471054,AK025708,AK075553,AK125526,AK225343,AK225685,BC028596,CR617906 NP_079055,EAW97031,BAB15223,AAH28596,Q8TBX8,ABM85608,ABW03741 Hs.144502 FLJ22055|PIP5K2C protein-coding 1314561 PIP5K1A phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 1580863 8955136,18073347,17567994,17496116,16979564,16710414,15870270,15489334,12682053,12477932,10828584,14701839,11032811,16189514,10589680,10747863 8394 NM_003557,AL592424,CH471121,AF085856,AK291015,BC007005,BC007833,CR596609,DQ656041,U78575,U78576,U78577,U78578 NP_003548,CAI16386,CAI16387,CAI16388,CAO72043,CAO72044,CAO72045,EAW53459,EAW53460,EAW53461,BAF83704,AAH07833,AAC50910,AAC50911,AAC50912,AAC50913,P78517,Q99755 Hs.655131,Hs.707569 GDB:9865027 protein-coding 1322093 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 8955136,17353931,18158329,15489334,15164053,15046600,14701839,14614850,12477932,9177790,8841185,7581382 8395 NM_003558,AL162730,AL354794,AL356219,CH471089,U52387,AK292734,BC030587,U78579,U78580,U78581 AAC50916,O14986,Q7KYT4,Q7KYT6,ABM81800,ABM84956,NP_003549,CAH71831,CAI12622,CAI12623,CAI12624,CAI12625,EAW62465,EAW62466,EAW62467,AAC51327,BAF85423,AAH30587,AAC50914,AAC50915 Hs.534371 GDB:686238 MSS4|STM7 protein-coding 1320550 PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma This gene encodes a member of the type I phosphatidylinositol-4-phosphate 5-kinase family of enzymes. A similar protein in mice is found in synapses and focal adhesion plaques, and binds the FERM domain of talin through its C-terminus. 1580863 18073347,17928408,17701898,17635937,17261850,17229424,16880396,16707488,15611330,15057824,15046600,14614850,12847086,12682053,12477932,12422220,12422219,11604140,10827173,9628581,9535851,14701839 23396 NM_012398,AC004637,AC005542,AC093071,CH471139,AB011161,BC004149,BC011138,CR607553 NP_036530,AAC15471,AAC32904,EAW69295,EAW69296,BAA25515,AAH11138,O60331,Q7LE22,Q96FE3 Hs.282177 GDB:9955978 KIAA0589|LCCS3|PIP5K-GAMMA|PIP5Kgamma protein-coding 1351926 PIP5K1L1 phosphatidylinositol-4-phosphate 5-kinase, type I-like 1 414250 1313818 PIP5K3 phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III PIP5K3 belongs to a large family of lipid kinases that alter the phosphorylation status of intracellular phosphatidylinositol. Signaling by phosphorylated species of phosphatidylinositol regulates diverse cellular processes, including membrane trafficking and cytoskeletal reorganization (Shisheva et al., 1999 [PubMed 9858586]).[supplied by OMIM] 15046600,17570343,17146146,17081983,16954148,16448788,15902656,15592455,15542851,15277528,15144186,14702039,14551253,14530284,12607114,12477932,12270933,11706043,10231032,9858586 200576 NM_015040,NM_152671,AC012362,AC016697,CH471063,AB023198,AK091482,AK127769,AL122124,AY457063,BC017736,BC032389,BC035705,BC125052,BC125053,BG287802,BX640810,CR620960,CR624088 NP_055855,NP_689884,AAY14870,AAX93222,EAW70444,EAW70445,EAW70446,EAW70447,EAW70448,EAW70449,BAA76825,BAC03674,BAC87123,AAR19397,AAH32389,AAI25053,AAI25054,Q08AR7,Q08AR8,Q53ST3,Q53T36,Q6ZS32,Q8N5H0,Q9Y2I7,AAI56452 Hs.173939 CFD|KIAA0981|MGC40423|PIKFYVE|PIP5K protein-coding 1346757 PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase-like 1 737633,1580863 14701839,12477932 737633 138429 NM_173492,AL157935,CH471090,BC042184 NP_775763,CAI12614,EAW87722,EAW87723,EAW87724,EAW87725,EAW87726,EAW87727,EAW87728,AAH42184,Q5T9C9 Hs.445486 MGC46424|PIPKH|RP11-203J24.5|bA203J24.5 protein-coding 1322755 PIPOX pipecolic acid oxidase 1580863 10642506,15489334,14702039,12477932,11330064,10931946,10772957 51268 AK022773,AK027498,BC008960,BC027622,C21024,CR457155,NM_016518,AC024619,CH471159,AF134593,AF136970 AAH08960,AAH27622,CAG33436,Q6IAJ9,Q8N6Z6,Q9P0Z9,ABM87537,ABW03898,NP_057602,EAW51168,EAW51169,AAF37331,AAG49431 Hs.462585 GDB:11507405 LPIPOX protein-coding 1602824 PIPSL PIP5K1A and PSMD4-like 17623810,16344562,12477932 266971 NR_002319,AL365510,BC068549 Hs.149255 PSMD4P2 pseudo 1342511 PIR pirin (iron-binding nuclear protein) This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. 737633,1580863 9079676,15951572,15489334,15231748,14573596,12876364,12477932,10362352,16189514 737633 8544 BC002517,BT019583,BT019584,CR541822,CR590557,CR596849,CR599849,CR605821,CR608851,CR615023,Y07867,Y07868,NM_003662,NM_001018109,AC095351,AC097625,CH471074 EAW98887,EAW98888,AAH02517,AAV38390,AAV38391,CAG46621,CAA69194,CAA69195,O00625,Q6FHD2,ABM82867,ABM86054,NP_003653,NP_001018119,EAW98886 Hs.495728 GDB:9955579 protein-coding 1352965 PISD phosphatidylserine decarboxylase 1580863 17478478,16381901,16192276,15790807,15489336,15489334,15461802,12477932,11256614,11076863,10591208,9110174,8870646,8619474 23761 NM_014338,AL096768,CH471095,AF035304,AF086277,AY927618,BC001482,BC009315,CR456540,CR596708,CR603600,CR608013,CR610646,CR611660,CR615708,CR616159,CR624548,AL050371 NP_055153,CAB56394,CAI23033,CAM28331,CAM28332,CAM28333,EAW59984,EAW59985,EAW59986,EAW59987,EAW59988,EAW59989,EAW59990,EAW59991,AAB88186,AAH01482,AAH09315,CAG30426,Q5TF13,Q5TF14,Q9UG56,CAB43678,CAL38509,CAK54571,CAK54870,ABM86382,ABW03791,ABW03477 Hs.420559 GDB:10795325 DJ858B16|DKFZP566G2246|PSDC|PSSC|dJ858B16.2 protein-coding 1354329 PISRT1 polled intersex syndrome regulated transcript 1 homolog (goat) 140464 AF404302 GDB:11507407 1352423 PITPNA phosphatidylinositol transfer protein, alpha Phosphatidylinositol transfer protein is a member of a diverse set of cytosolic phospholipid transfer proteins that are distinguished by their ability to transfer phospholipids between membranes in vitro (Wirtz, 1991 [PubMed 1883207]).[supplied by OMIM] 1580863 8194769,17353931,7914867,17672918,15489334,15322105,12621583,12477932,11923101,9230105,9169461,8999962,8541325,8255295,7761838,1883207,15182174 5306 NM_006224,AC100748,CH471108,AL117644,AL542612,BC027177,BC045108,BC068538,BC082976,CR598414,CR607575,CR609028,CR623147,CR624385,D30036,M73704 NP_006215,EAW90610,EAW90611,EAW90612,AAH27177,AAH45108,AAH68538,AAH82976,BAA06276,AAA36441,Q00169,Q05CD4,Q6NUL6 Hs.429819 MGC99649|PITPN|VIB1A protein-coding 736239 PITPNB phosphatidylinositol transfer protein, beta The protein encoded by this gene is found in the cytoplasm, where it catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. 1580863 8541325,16780419,15489334,15461802,15231748,14702039,12477932,12023904,10591208,1883207 23760 NM_012399,AL031591,CH471095,AK123384,BC018704,BC031427,BU147254,CA435279,CR456541,CR611905,CR618965,CR623086,CR624392,D30037 NP_036531,EAW59743,EAW59744,EAW59745,AAH18704,AAH31427,CAG30427,BAA06277,P48739,CAK54572,CAK54871 Hs.696097 GDB:5218337 PI-TP-beta|PtdInsTP|VIB1B protein-coding 1312467 PITPNC1 phosphatidylinositol transfer protein, cytoplasmic 1 This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein transfers phosphatidylinositol from one membrane compartment to another. Two transcript variants encoding distinct isoforms have been identified for this gene. 10531358,16189514,15345747,14702039,12477932,12401207,8889548 26207 NM_181671,NM_012417,AC079331,AC110921,CH471099,AF171102,AK094724,AK290838,BC007905,BC067095,BM678261 NP_858057,NP_036549,EAW89030,EAW89031,EAW89032,AAF06148,BAF83527,AAH07905,AAH67095,Q9UKF7 Hs.591185,Hs.696160 RDGB-BETA|RDGBB|RDGBB1 protein-coding 1315482 PITPNM1 phosphatidylinositol transfer protein, membrane-associated 1 PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM] 1580863 9245688,9680295,17090528,17081983,15723057,15627748,15545272,15489334,15302935,15125835,12477932,12225667,12077336,11909959,10022914,1903119,16189514 9600 X98654,NM_004910,AP001184,CH471076,AF334584,AK126944,AY429102,BC022230 AAH22230,CAA67224,O00562,ABM82109,ABW03364,NP_004901,EAW74638,EAW74639,EAW74640,EAW74641,EAW74642,EAW74643,AAK01444,AAR06909 Hs.372295 DRES9|FLJ44997|NIR2|PITPNM|RDGB|RDGB1|RDGBA|RDGBA1|Rd9 protein-coding 1322017 PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM] 1580863 10022914,15627748,12522145,12477932,10819331 57605 NM_020845,AC026362,AC073857,CH471054,AB040890,AF334585,AK026156,AL133612,BC025360,BC040063,BC050567,BC141813 NP_065896,EAW98383,EAW98384,EAW98385,EAW98386,BAA95981,AAK01445,CAB63741,AAI41814,Q9BZ72,Q9UF51 Hs.272759 KIAA1457|NIR3|RDGB2|RDGBA2 protein-coding 1317841 PITPNM3 PITPNM family member 3 PITPNM3 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM] 1580863 10022914,18188949,17377520,15627748,12477932 83394 NM_031220,AC055872,CH471108,AB209130,AF334586,AL389994,BC020484,BC035799,BC128583,BC128584 NP_112497,EAW90304,EAW90305,BAD92367,AAK01446,CAB97544,AAI28584,AAI28585,Q9BZ71 Hs.183983 MGC157740|MGC157741|NIR1|RDGBA3 protein-coding 1322218 PITRM1 pitrilysin metallopeptidase 1 1580863 9733512,16849325,15489334,15164054,14702039,12477932,10470851,10360838,9373149,8889549,8125298,1036083 10531 AL451164,CH471072,AA132969,AB029027,AF061243,AK001183,AK002061,AK023476,AK225084,AL117409,BC001150,BC005025,BC045577,BC095422,BC111987,NM_014889,BC113369,BG720390,BI766649,BM737694,BX649017,CB529735,CD692197,CR598931,CR611859,CR749279 NP_055704,CAI39994,CAI39995,CAI39996,CAI39997,CAI39998,CAI40001,EAW86490,EAW86491,EAW86492,EAW86493,BAA83056,AAC67244,AAH01150,AAH05025,AAH95422,AAI11988,AAI13370,CAH18134,Q5JRX3,Q68DT6 Hs.528300 GDB:9958788 KIAA1104|MGC138192|MGC141929|MP1|hMP1 pitrilysin metalloproteinase 1 protein-coding 733838 PITX1 paired-like homeodomain 1 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. 1580863 9070926,18186570,18053270,17984056,17762884,17549029,17081983,16291394,16189514,15489334,15372022,12915995,12620797,12477932,12223489,11048804,10372733,10369682,10082522,9343431,9337397,9186059,8755540,15960973 5307 NM_002653,AC004764,AC008406,AF009648,AF009649,AF009650,CH471062,CS278249,AK290635,AL578756,BC003685,BC009412,BX362641,CR601326,CR603120,CR610821,U70370 NP_002644,AAC17733,AAB65251,EAW62226,EAW62227,CAJ86537,BAF83324,AAH03685,AAH09412,AAC51126,P78337,ABZ92176 Hs.84136 GDB:5326830 BFT|POTX|PTX1 protein-coding 731390 PITX2 paired-like homeodomain 2 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. 737814,1580863 15385555,9708732,9618168,18312615,17850355,17603472,17558846,17486624,17197537,17167399,17065505,16936096,16876867,16834779,16638984,16498627,16449236,16274491,15895993,15728254,15591271,15489334,15466416,15255117,14975719,14630904,12732450,12612071,12477932,12464179,12381896,12223489,12130547,11948188,11821690,11774072,11763998,11487566,11157981,10372733,10051017,9685346,9539779,9437321,8944018,8942889,7581385,1303248,16189514 737814 5308 NM_153427,NM_153426,NM_000325,NG_007120,AC017068,AF238048,CH471057,AF048720,AF048721,AF048722,AK127829,AK291591,BC013998,BC106010,CR597942,CR602984,CR604884,CR605855,CR610480,U69961 NP_700476,NP_700475,NP_000316,AAK15048,EAX06262,EAX06263,EAX06264,AAC39716,AAC39717,AAC39718,BAF84280,AAH13998,AAI06011,AAC16257,Q3KQX9,Q99697,ABM84352,ABM87740 Hs.643588 GDB:134770 ARP1|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|MGC111022|MGC20144|Otlx2|PTX2|RGS|RIEG|RIEG1|RS protein-coding 732297 PITX3 paired-like homeodomain 3 This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. 737764,1580863 9620774,18420308,17905480,17888164,17017509,16636655,16565358,16477036,16272057,15489334,15286169,12477932,6801987 737764 5309 AF041339,BC011642,NM_005029,AL160011,CH471066 EAW49710,AAC24502,AAH11642,O75364,Q5VZL2,ABM82871,ABM86057,ABM86058,NP_005020,CAH71624,EAW49709 Hs.137568 GDB:9838976 CTPP4|MGC12766|PTX3 protein-coding 1315902 PIWIL1 piwi-like 1 (Drosophila) This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. 14749716,17544373,16953229,16287078,15489334,14702039,12906857,12477932,12037681,11154219,9851978 9271 NM_004764,AC127071,CH471054,AB274731,AF104260,AF264004,AF387507,AK093133,BC028581,BG718140 NP_004755,EAW98509,EAW98510,EAW98511,BAF49084,AAC97371,AAK92281,AAK69348,BAC04068,AAH28581,Q96J94 Hs.405659 GDB:9955574 HIWI|MIWI|PIWI protein-coding 1315877 PIWIL2 piwi-like 2 (Drosophila) PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM] 1580863 16377660,15489334,14736746,14702039,12906857,12477932,11279525 55124 NM_018068,AC105206,AC105910,CH471080,AB079367,AK000397,AK001213,AK027497,AK056418,AK291038,AK292440,AK315830,AK315833,BC025995,BC111751 NP_060538,EAW63686,BAC81342,BAA91558,BAB55155,BAF83727,BAF85129,BAF98721,BAF98724,AAH25995,AAI11752,Q8TC59,ABZ92523 Hs.661109 GDB:11507409 FLJ10351|HILI|MGC133049|PIWIL1L|mili protein-coding 1351572 PIWIL3 piwi-like 3 (Drosophila) PIWIL3 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM] 12906857 440822 NM_001008496,AP000358,AP000359,CH471095,AB079368 NP_001008496,EAW59679,BAC81343,Q7Z3Z3 Hs.448343 GDB:11508968 HIWI3 protein-coding 1322245 PIWIL4 piwi-like 4 (Drosophila) PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM] 1580863 17544373,15489334,14749716,14702039,12906857,12477932,12414724 143689 NM_152431,AP000943,CH471065,AB079366,AF086344,AK093475,AK096837,BC031060,CR749642 NP_689644,EAW66940,EAW66941,BAC81341,BAC04179,BAC04873,AAH31060,CAH18436,Q7Z3Z4,ABM82166,ABM85351 Hs.660188 GDB:11508969 DKFZp686P01248|FLJ36156|HIWI2|MIWI2 protein-coding 1353522 PJA1 praja 1 1580863 16344560,15772651,15489334,14702039,12477932,12036302,11959851,10722742,9393880 64219 NM_022368,NM_145119,NM_001032396,AL157699,CH471132,AF262024,AF264620,AK021892,AK096611,AK226171,AK290543,BC039149,BC048323,BC058327,BC075803,BC105051,BC105053,BC113035,CR616039,DA778001 NP_071763,NP_660095,NP_001027568,CAI41604,CAI41605,EAX05367,EAX05368,EAX05369,AAM53039,AAM53040,ABZ92524,BAB13928,BAF83232,AAH48323,AAH75803,AAI05052,AAI05054,AAI13036,Q5JUT8,Q8NG27 Hs.522679 GDB:11507411 RNF70 protein-coding 733552 PJA2 praja 2, RING-H2 motif containing 17081983,15489334,15342556,12477932,12036302,11959851,9455477,9393880,8889548,7623148 9867 CR749579,NM_014819,AC008467,AC010625,CH471086,AB007898,AK291759,BC030826,BM469517,BM681899,BP301854,BQ228553,CR621575 CAH18371,O43164,NP_055634,EAW49050,EAW49051,BAA23710,BAF84448,AAH30826 Hs.483036,Hs.592564 KIAA0438|Neurodap1|RNF131 protein carrying the ring-h2 sequence motif protein-coding 736706 PKD1 polycystic kidney disease 1 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It may function as an integral membrane protein involved in cell-cell/matrix interactions, and may modulate intracellular calcium homoeostasis and other signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene have been associated with autosomal dominant polycystic kidney disease. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. 1580867,1601399,1580863 18283041,18060739,17980165,17890878,17671167,17574468,17540339,17525154,17451746,17437318,17437137,17396115,17371830,17102641,17090781,17081983,16790429,16778383,16741147,16565258,16319969,16311606,16219758,16038619,16014040,15870383,15780076,15748886,15738054,15623513,15466861,15382167,15284290,15231748,15146197,15087466,15060061,9326937,10861291,7663510,15001556,14718571,14596619,12946628,12819240,12665801,12482949,12220456,12048202,12007403,11961010,11912216,11901144,11891195,11857740,11836366,11752017,11728985,11698076,11691639,11581269,11571556,11414761,11406351,11316854,11274246,11216660,11140688,11115377,11113628,11106764,11058904,11012875,10987650,10923040,10854095,10729710,10647901,10577909,10493829,10364515,10339594,10200984,9921908,9889186,9521593,9345095,9285784,9259200,9199561,9192675,9177229,9150733,8981910,8792818,8765322,8643665,8554072,8004675,7894481,7736581,7633406,7581371,2821260,1577479,15692563 1580867,1601399 5310 NM_001009944,NM_000296,NG_005895,AC005600,AC009065,AC093513,CH471112,L39891,L43619,AB209025,CN268814,CR590016,CR613181,L33243,U24497,AB209675 NP_001009944,NP_000287,AAC34211,EAW85553,EAW85554,EAW85555,AAB59488,AAC41765,BAD92262,AAC37576,AAC50128,O75276,P98161,Q15142,Q59EY6,Q59GT4,BAD92912 Hs.75813 GDB:120293 PBP polycystic kidney disease 1 homolog protein-coding 1352736 PKD1L1 polycystic kidney disease 1 like 1 This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. 1580863 11863367,15203210,14702039,12975309,12411743 168507 NM_138295,AC019066,AC069282,AL832676,CH236958,CH471128,AB061683,AK092057,AY358757,BF062285 NP_612152,EAW61003,EAW61004,EAW61005,EAW61006,EAW61007,BAB85807,AAQ89117,Q8TDX9 Hs.195979 GDB:11507413 PRO19563 protein-coding 1343423 PKD1L2 polycystic kidney disease 1-like 2 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16344560,15203210,14702039,12782129,12477932,11572484 114780 NM_052892,NM_001076780,AC092718,AC131888,CH471114,AB067466,AK098052,AK127266,AK131378,AL832135,AW082870,AY164483,AY371495,BC004562,BC014120,BC014157,CR627341,DB306292 NP_443124,NP_001070248,EAW95539,EAW95540,EAW95541,EAW95542,EAW95543,EAW95544,BAB67772,BAC05222,BAC86906,BAD18529,AAO32796,AAQ73173,AAH04562,AAH14120,AAH14157,CAH10372,Q6AI51,Q7Z442,Q96CM9 Hs.413525 DKFZp686J19100|FLJ45333|PC1L2 protein-coding 1317476 PKD1L3 polycystic kidney disease 1-like 3 1580863 12782129,17353931 342372 XM_001133467,XM_001134223,XM_001724502,AC009127,CH471166,AY164485 XP_001133467,XP_001134223,XP_001724554,EAW59202,EAW59203,EAW59204,AAO32798,Q7Z443 Hs.675286 protein-coding 1348862 PKD1P1 polycystic kidney disease 1 (autosomal dominant) pseudogene 1 8004675,11414761,10493829 339044 NG_002797,AC138969 HG1 pseudo 1349855 PKD1P2 polycystic kidney disease 1 (autosomal dominant) pseudogene 2 11414761,10493829,8004675 283955 NG_002795,AC138969 HG2 pseudo 1346369 PKD1P3 polycystic kidney disease 1 (autosomal dominant) pseudogene 3 11414761,10493829,8004675 339039 NG_002796,AC138932,AF320593 HG3 pseudo 1344535 PKD1P4 polycystic kidney disease 1 (autosomal dominant) pseudogene 4 11414761,10493829,8004675 353512 NG_002800,AC126755,AF320594 HG4 pseudo 1353134 PKD1P5 polycystic kidney disease 1 (autosomal dominant) pseudogene 5 11414761,10493829,8004675 348156 NG_002798,AC126755 HG5 pseudo 1347986 PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 11414761,10493829,8004675 353511 NG_002799,AC139256 HG6 pseudo 1353787 PKD2 polycystic kidney disease 2 (autosomal dominant) This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. The encoded protein may function in renal tubular development, morphology, and function, and may modulate intracellular calcium homoeostasis and other signal transduction pathways. This protein interacts with polycystin 1 to produce cation-permeable currents. Mutations in this gene have been associated with autosomal dominant polycystic kidney disease. 1580867,1580868,1580863 8650545,10760273,9171830,15337773,10770959,18273441,18048422,17303584,17292589,17283055,17217069,17204494,17081983,17008358,16551655,16319969,16311606,16278216,16223735,16192288,16038619,16025301,15843396,15780076,15717641,15692563,15489334,15382167,15194699,15130895,15123714,15001556,14993477,12946628,12707387,12527301,12525172,12477932,11991947,11901144,11891195,11854751,11698076,11438989,11252306,11076863,10913159,10835625,10541293,10411676,10097141,9949210,9573526,9529618,9402976,9326320,9286709,9192675,9175744,9110174,8954772,8619474,8298643 1580867,1580868 5311 NM_000297,AC084732,AF004873,CH471057,AF054992,AF113693,BC112261,BC112263,BQ574566,U50928,U56813 NP_000288,AAC16004,EAX06011,AAC09351,AAI12262,AAI12264,AAC50520,AAC50933,Q13563,Q9UEU6,AAI11455 Hs.181272 GDB:118851 APKD2|MGC138466|MGC138468|PC2|PKD4 protein-coding 1314779 PKD2L1 polycystic kidney disease 2-like 1 This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Alternative splice variants have been described but their full length sequences have not been determined. 1580863 10517637,12809519,9878261,17944866,16537653,15489334,12477932,11959145,11805156,11698076,10602992,10602361,10097141,9748274 9033 NM_016112,AF153459,AF153474,AL139819,CH471066,AF053316,AF073481,AF092170,AF094827,BC025665,DQ084244 NP_057196,AAF28108,CAH72822,EAW49833,EAW49834,AAD51859,AAD41638,AAD16101,AAD08695,AAH25665,AAZ31363,O95814,Q1L4F0,Q5W039,Q9P0L9,ABM82480,ABM85667 Hs.159241 GDB:9954789 PCL|PKD2L|PKDL protein-coding 1321074 PKD2L2 polycystic kidney disease 2-like 2 1580863 10602361,12477932,11959145,11698076,10756092 27039 AC106753,AC106791,CH471062,AF118125,AF182034,BC034619,BC038714,BC044581,BG721989,NM_014386 NP_055201,EAW62174,EAW62175,EAW62176,AAD46478,AAF65622,AAH44581,Q86YB4,Q9NZM6 Hs.567453 GDB:10795924 protein-coding 1351087 PKD3 polycystic kidney disease 3 (autosomal dominant) 1974020 5312 GDB:127866 1315287 PKDREJ polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. 1580863 9949214,17564962,12477932,11698076,10602361,10591208 10343 NM_006071,AL031034,AL078611,CH471138,EF517278,Z93024,AF116458,AL137288,BC027601 NP_006062,EAW73411,ABR22603,CAI18792,AAD18021,CAB70680,Q5THM3,Q9NTG1 Hs.241383 GDB:9956402 protein-coding 1318266 PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. 70439,1642441,1642440 16243292,11919560,14983006,17669261,17593545,17470460,17283055,17160262,16897190,16677362,16199545,15647252,15458427,15108281,15108277,14702039,12874454,12846734,12506140,12191969,12079288,11898128,9503014,7920664 70439,1642441,1642440 5314 NM_138694,NM_170724,AL121946,AL157774,AL355997,AL391221,AL590391,AY129465,CH471081,AF480064,AK091971,AK128031,AY074797,AY092083,BX538137,BX647896 NP_619639,NP_733842,CAI20324,CAI20325,CAH73867,CAH73868,CAI16676,CAI16677,CAH72781,CAH72782,AAM93492,EAX04359,EAX04360,AAM44232,BAC03782,AAL74290,AAM18186,Q5VUA2,Q5VUA3,Q86Z26,Q8NAW5,Q8TCZ9 Hs.662050 GDB:433910 ARPKD|DKFZp686C01112|FCYT|FLJ46150|TIGM1 protein-coding 1321293 PKHD1L1 polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 12620974,12477932,11329013 93035 NM_177531,AC021001,AC021237,AP000427,CH471060,AK131338,AL133640,AY219181,BC093096,BG186508 NP_803875,EAW91931,CAB63761,AAO60072,AAH93096,Q86WI1 Hs.170128 DKFZp586C1021|PKHDL1 protein-coding 731267 PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. 1710219,15489334,12798691,12477932,11978406,10026146,8805303,8027074,7905001,7836431,3456605,2989819,2434500,1862343,1770951 5569 NM_006823,NM_181839,AC068700,AF234641,CH471068,AA644101,BC022265,CR457052,CR602843,CR607441,CR610811,CR614267,CR623358,S76965 NP_006814,NP_862822,AAF40206,EAW87055,EAW87056,EAW87057,EAW87058,AAH22265,CAG33333,AAB21141,P61925,ABM84135,ABM87536 Hs.433700 GDB:433263 PRKACN1 protein-coding 736855 PKIB protein kinase (cAMP-dependent, catalytic) inhibitor beta The protein encoded by this gene is a member of the cAMP-dependent protein kinase inhibitor family. Studies of a similar protein in rat suggest that this protein may interact with the catalytic subunit of cAMP-dependent protein kinase and act as a competitive inhibitor. At least three alternatively spliced transcript variants encoding the same protein have been reported. 1580863 15489334,14574404,12477932,12061725,11978406,10880337,7684369,2052616,12748276 5570 NM_181794,NM_181795,NM_032471,AL512283,AL513481,CH471051,AF087873,AF225513,AJ420562,AK074397,BC036011,BC093027,BG507119,BG572417,CR597049,CR600764,CR604387,CR623875 NP_861459,NP_861460,NP_115860,CAI17093,CAI17094,CAI17095,EAW48168,EAW48169,EAW48170,EAW48171,AAM10501,AAK00638,AAH36011,AAH93027,Q5T0Z6,Q5T0Z7,Q9C010 Hs.486354 GDB:433265 FLJ23817|PRKACN2 protein-coding 1350390 PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. Studies of a similar protein in mice suggest that this protein acts as a potent competitive PKA inhibitor, and is a predominant form of PKA inhibitors in various tissues. Three alternatively spliced transcript variants encoding the same protein have been reported. 1580863 9218452,17353931,16870489,12477932,11978406,11780052,11742798,11549316,10880337 11142 Z97053,AB019517,AF115966,AF182032,BC104256,BC104257,BF569812,BG717090,BU161358,CR623057,NM_181805,NM_181804,NM_007066,NG_007385,CH471077 EAW75909,EAW75910,EAW75911,EAW75912,EAW75913,EAW75914,CAC18874,BAA77336,AAP97238,AAD55445,AAI04257,AAI04258,Q549H9,Q9Y2B9,NP_861521,NP_861520,NP_008997,EAW75908 Hs.651213 GDB:9956929 MGC126458|MGC126459 protein-coding 737364 PKLR pyruvate kinase, liver and RBC The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. 1625581,1625591,1625588,1625589,1625583,1625587,1300048 1445295,3126495,18420493,18269685,17574881,17360088,15727904,15491302,15489334,12477932,12393511,12196482,12107439,12006652,11960989,11916152,11698298,11668614,11459427,11328279,10772876,10087985,9886305,9827908,9522120,9482576,9373149,9090535,9075576,9057665,8807089,8664896,8483951,8481523,8476433,8180378,8161798,8125298,7706479,3566732,3378452,2018831,1896471,1602151,1536957,17081983,16540430,16289162 1625581,1625591,1625588,1625589,1625583,1625587 5313 NM_000298,NM_181871,AL713999,AY316591,CH471121,D13243,S59798,S59799,S59800,S59801,S59803,S59804,S59806,S59807,S59809,S59810,S59811,S59812,S59813,S59814,S59815,S59817,S59819,S59820,S59821,S59822,S59823,S59829,S59832,U47654,Z18922,AB015983,AK225947,BC025737,BF110802,M15465,S60712 NP_000289,NP_870986,CAI95101,CAI95102,AAP69527,EAW53079,EAW53080,BAA02515,AAA92535,AAA92536,BAA31706,AAH25737,AAA60104,AAB26262,O75758,P30613,Q16715,Q16716,Q4VX10,Q4VX11,ABW03679 Hs.95990 GDB:120294 PK1|PKL|PKR|PKRL|RPK 1643243 BW132_H protein-coding 737501 PKM2 pyruvate kinase, muscle The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phosphoenolpyruvate from pyruvate and ATP. This protein has been shown to interact with thyroid hormone, and thus may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. 1580863,1300048 12620389,15231747,17220478,2040271,2813362,2854097,11256614,17414054,17406361,17081983,17011640,16964243,16132722,15996096,15952740,15862967,15592455,15489334,15294093,15128873,14702039,12820337,12820320,12820312,12665801,12477932,11960989,11895152,11162730,9657767,9466265,9373149,9329624,8895530,8125298,6930359,3102533,2931560,2838416,2174328,2169315,16189514 5315 NM_182470,NM_002654,NM_182471,AC020779,AF157692,AF185280,AF242584,AY352517,CH471082,X56494,AF025439,AK092369,AK222927,BC000481,BC007640,BC007952,BC012811,BC019265,BC023328,BC023592,BC035198,BC035487,BC094767,BC096823,BG490968,CR592076,CR592184,CR602413,CR612091,CR621722,CR621899,CR626740,M23725,M26252,Z36831 NP_872270,NP_002645,NP_872271,AAD47248,AAF01766,AAF65764,AAQ15274,EAW77884,EAW77885,EAW77886,EAW77887,EAW77888,EAW77889,EAW77890,CAA39849,AAC39559,BAD96647,AAH00481,AAH07640,AAH07952,AAH12811,AAH19265,AAH35198,AAH94767,AAA36449,AAA36672,P14618,Q4V9L8,Q504U3,Q8WUW7,Q9NYI7,Q9UK31,Q9UKK4,ABM83665,ABW03543 Hs.534770 GDB:120295 CTHBP|MGC3932|OIP3|PK3|PKM|TCB|THBP1 protein-coding 1603703 PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase preferentially phosphorylates and inactivates cell division cycle 2 protein (CDC2), and thus negatively regulates cell cycle G2/M transition. This kinase is associated with the membrane throughout the cell cycle. Its activity is highly regulated during the cell cycle. Protein kinases AKT1/PKB and PLK (Polo-like kinase) have been shown to phosphorylate and regulate the activity of this kinase. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 10373560,9001210,18378775,17192257,16565220,16476973,15616553,15175024,14702039,12738781,12606722,12477932,11802161,11326318,10504341,9499405,9268380 9088 NM_182687,NM_004203,AC004233,AC004235,AF549406,CH471112,AK097642,AK098452,BC121161,BC121162,BC130011,BC153823,BG530406,BQ017689,CR595647,CR597027,CR598569,CR601395,CR603670,CR608067,CR610333,CR617420,CR622913,U56816 NP_872629,NP_004194,AAC04478,AAC04477,AAN40703,EAW85439,EAW85440,AAI21162,AAI21163,AAI30012,AAC50949,Q0IJ49,Q99640,AAI60025 Hs.77783 DKFZp547K1610|FLJ20093|MYT1 protein-coding 1352784 PKN1 protein kinase N1 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 11134534,11104762,11078882,11054541,10843871,10809724,10792047,10764742,10753910,10640683,10467162,10388627,10358086,9832145,9751706,9637778,9570957,9546672,9533029,9446575,9199504,9175763,9030526,8816775,8621664,8571127,8557118,7988719,7957185,7851406,12773565,10619026,12761180,8805275,8135837,17301291,17192257,17081983,16964243,16331689,16189514,15791647,15489334,15302935,15123640,14741690,14702039,14514689,12514133,12477932,12435421,12387894,11930178,11802708,11432776,11259428 5585 NM_002741,NM_213560,AC008569,CH471106,AK123007,AK292130,BC018575,BC040061,BC094766,BQ946818,BU628889,CR596511,CR596612,CR606067,CR610408,CR620491,D26181,S75546,U33053 NP_002732,NP_998725,EAW84419,EAW84420,EAW84421,BAF84819,AAH40061,AAH94766,BAA05169,AAB33345,AAC50209,Q15523,Q16512,Q504U4,Q9UD44,ABM83403 Hs.466044 DBK|MGC46204|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1 protein-coding 1352598 PKN2 protein kinase N2 1580863 18437351,17632197,17332740,17081983,16964243,16710414,16344560,15822905,15302935,14718574,14702039,12477932,11356191,10926925,10818102,10753910,10026169,9368003,9121475,8910519,7988719,15797222,11781095,9092545,7851406,12626518 5586 NM_006256,AC119426,AL136381,CH471097,AF118089,AK023692,BC006993,BC029749,BC038832,BC046146,BC062620,BC125199,DA451427,S75548,U33052 NP_006247,CAI23270,CAI23271,CAI23273,EAW73161,EAW73162,EAW73163,EAW73164,EAW73165,AAF22033,AAH29749,AAH62620,AAI25200,AAB33346,AAC50208,Q08AF4,Q16513,Q5TBX8,Q6P5W9,Q9UHS4 Hs.440833 MGC150606|MGC71074|PAK2|PRK2|PRKCL2|PRO2042|Pak-2 protein-coding 1314240 PKN3 protein kinase N3 11432776,10441506,17192257,15489334,15282551,15164053,12477932,11259428 29941 NM_013355,AL441992,CH471090,AB019692,AI741632,BC023327,BC032794,BC041581,BC062558,BQ009753,BU854923,CB987960,CR614288 NP_037487,CAI15401,EAW87824,EAW87825,BAA85625,AAH32794,AAH62558,Q05BU1,Q6P5Z2 Hs.300485 RP11-545E17.1 protein-coding 1312771 PKNOX1 PBX/knotted 1 homeobox 1 1580863 9479508,18093541,15468914,12871956,12771203,12732210,12477932,11342305,10906782,10830953,10471746,10373562,10215622,9582372,9482740,9482739,9373149,9366523,9143494,9079695,8889549,8125298,7729685,16189514 5316 NM_004571,AP001630,AP001748,CH471079,AA133342,AK222892,AY142115,AY196965,AY566249,BC000735,BC007746,CR591092,CR603181,CR605067,CR614253,U68727,Y13613 NP_004562,BAA95533,EAX09517,EAX09518,BAD96612,AAN34940,AAO45825,AAT70235,AAH00735,AAH07746,AAC51243,CAA73934,P55347,Q53GN9,Q5DNB2,Q6PKH2,Q96I87,ABM83635,ABM86887 Hs.431043 GDB:5914719 PREP1|pkonx1c protein-coding 1348448 PKNOX2 PBX/knotted 1 homeobox 2 16344560,15489334,15339927,14702039,12477932,11972344,11549286 63876 NM_022062,AP000708,AP001007,AP003061,AP003069,CH471065,AB065001,AJ417081,AK023136,AK023792,AL512682,BC045626,BX648615,DA789677 NP_071345,EAW67631,EAW67632,EAW67633,BAB83665,CAD01142,BAB14422,AAH45626,CAH56146,Q96KN3,Q9H921,ABZ92374 Hs.696454 GDB:11502989 FLJ13074|PREP2 protein-coding 1316687 PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. 1599084 10852826,7527055,9326952,9369526,17668353,17593084,16632867,16159729,15988759,15663951,12840072,12839569,12477932,11994137,11790773,10951270,10880961,10374265,9721216,9606214,9272178,7890138,14673151 1599084 5317 NM_000299,NM_001005337,AC119427,CH471067,Z73678,AK123555,BC114571,BC115702,X79293,Z34974 NP_000290,NP_001005337,EAW91350,EAW91351,EAW91352,CAA98022,AAI14572,AAI15703,CAA55881,CAA84426,Q13835,Q14BN3,Q14CA0 Hs.497350 GDB:4249598 B6P|MGC138829 protein-coding 1315204 PKP2 plakophilin 2 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. 1580872,1580873,1580863 8922383,17041889,17010805,16876743,16567567,16549640,16415378,16344560,15489853,15324660,15231748,12941695,12477932,11790773,11416169,10852826,10828611,10374265,10374264,9721216,15778465 1580872,1580873 5318 X97675,NM_004572,AC087311,AC087588,CH471116,AU125826,AW439621,BC070083,BC094762,BC126199,BX956935,DB454360,NM_001005242 CAA66264,CAA66265,A0AV37,Q4VC01,Q99959,NP_001005242,NP_004563,EAW88511,EAW88512,EAW88513,EAW88514,EAW88515,EAW88516,AAH94762,AAI26200 Hs.164384 GDB:6886832 ARVD9 protein-coding 1342758 PKP2P1 plakophilin 2 pseudogene 1 10828611 82500 NG_000936,AC005840,AC006064 pseudo 1319304 PKP3 plakophilin 3 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. 1580863 17391671,16964243,16407409,15951569,15489334,15302935,12827610,12707304,12477932,10852826,10381383,10374265,9373149,8125298,15778465 11187 NM_007183,AC138230,CH471158,AF053719,AK025067,AK223511,BC000081,BG611119,BX356582,Z98265 NP_009114,EAX02322,EAX02323,AAF23050,BAD97231,AAH00081,CAB44310,Q9Y446,ABM82618,ABM85801 Hs.534395 GDB:6886987 protein-coding 1317269 PKP4 plakophilin 4 Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants have been found for this gene, but the full-length nature of only two of them have been described so far. These two variants encode distinct isoforms. 1580863 8937994,17264675,17115030,17081983,16094384,15951569,15304078,14702039,12615965,12522270,12477932,12426320,12370826,12047349,11711544,11206135,10896674,10092585,10037471,9721216,9342840 8502 NM_001005476,AC005042,AC008070,CH471058,AK054911,AK055015,AK055823,AK124237,NM_003628,AK128720,BC034473,BC041163,BC048013,BC050308,CR602334,U60472,U81005,X81889 NP_003619,NP_001005476,AAY62612,AAY14929,EAX11425,EAX11426,EAX11427,EAX11428,EAX11429,EAX11430,EAX11431,EAX11432,EAX11433,AAH50308,AAQ13346,AAD00454,CAA57478,O95645,Q4W5T8,Q53TM5,Q6LCG8,Q86W91,Q99569 Hs.407580 GDB:9955502 FLJ31261|FLJ42243|p0071 protein-coding 1343434 PLA1A phospholipase A1 member A Phosphatidylserine-specific phospholipase A1-alpha (PLA1A) acts specifically on phosphatidylserine (PS) and 1-acyl-2-lysophosphatidylserine (lyso-PS) to hydrolyze fatty acids at the sn-1 position of these phospholipids.[supplied by OMIM] 1580863 10196188,15489334,12477932,12436198,12069807,9373149,9074642,8999922,8125298,1531641 51365 NM_015900,AC073352,CH471052,AF035268,AF035269,AK222705,BC035347,BC047703,BX647516,U37591 NP_056984,EAW79557,EAW79558,EAW79559,EAW79560,AAC98921,AAC98922,BAD96425,AAH47703,AAC99994,Q53H76 Hs.437451 PS-PLA1|PSPLA1 protein-coding 736427 PLA2G10 phospholipase A2, group X 1300048,1580863 17077289,16438975,15781456,15489334,15007070,14962950,14501581,12664556,12477932,12161451,12048163,12021277,11741884,9188469,11019817,10922494,8617505,17093191,9745929,9377118 8399 NM_003561,AC009167,CH471112,BC069539,BC106731,BC106732,BC111804,CR456885,U95301 NP_003552,EAW85104,AAH69539,AAI06732,AAI06733,AAI11805,CAG33166,AAB64410,O15496,Q14DU3 Hs.567366 GDB:9865032 GXPLA2|GXSPLA2|MGC119918|MGC119919|MGC133367|SPLA2 phospholipase a2, group 10 protein-coding 1312232 PLA2G12A phospholipase A2, group XIIA Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM] 1580863 11031251,16303743,15489334,14516201,12975309,12522102,12477932,11278438,9745929,9377118 81579 NM_030821,AC004067,CH471057,CS051187,AF306567,AF332892,AK075389,AY359024,BC017218,CR610634,CR621106 NP_110448,EAX06246,EAX06247,EAX06248,EAX06249,CAI72089,AAG50243,AAG50289,BAC11589,AAQ89383,AAH17218,Q542Y6,Q9BZM1,ABM83651,ABM87859 Hs.656389 GXII|PLA2G12|ROSSY protein-coding 1351879 PLA2G12B phospholipase A2, group XIIB Phospholipase A2 (PLA2) enzymes catalyze hydrolysis of glycolipids to release free fatty acids and lysophospholipids. PLA2G12B belongs to the PLA2 family, but it is catalytically inactive due to an amino acid change in its active site and has altered phospholipid-binding properties (Rouault et al., 2003 [PubMed 14516201]).[supplied by OMIM] 1580863 9377118,15489334,15340161,14516201,12477932,9745929 84647 NM_032562,AC069548,CH471083,AF339053,AF349540,AY358032,BC093996,BC111946,BF939574 NP_115951,EAW54464,EAW54465,EAW54466,AAL09472,AAK30168,AAQ92918,AAH93996,AAI11947,Q9BX93 Hs.333175 FKSG71|GXIIB|GXIIIsPLA2|MGC138151|PLA2G13 protein-coding 735909 PLA2G1B phospholipase A2, group IB (pancreas) Phospholipase A2 (EC 3.1.1.4) catalyzes the release of fatty acids from glycero-3-phosphocholines. The best known varieties are the digestive enzymes secreted as zymogens by the pancreas of mammals. Sequences of pancreatic PLA2 enzymes from a variety of mammals have been reported. One striking feature of these enzymes is their close homology to venom phospholipases of snakes. Other forms of PLA2 have been isolated from brain, liver, lung, spleen, intestine, macrophages, leukocytes, erythrocytes, inflammatory exudates, chondrocytes, and platelets (Seilhamer et al., 1986 [PubMed 3028739]) .[supplied by OMIM] 1302550,1300048,1580863 7060561,1918029,9886417,15528384,16005851,17981679,12423354,17434532,16541075,16495221,16392040,15489334,15220446,14557262,12759552,12501175,12477932,11807183,11510783,11353443,11025364,10964913,10905638,10873103,10735945,10509674,9848887,9847074,9188469,8358438,8300559,8175726,7721806,7590434,7584826,6477929,6349696,3028739,2052621,9745929,9377118,16189514 1302550 5319 NM_000928,AC003982,AY438977,CH471054,M21056,AA844927,BC005386,BC013384,BC106725,BC106726,BE969737,BX113838,CA867923,M21054 NP_000919,AAB95635,AAR05441,EAW98184,AAA60107,AAI06726,AAI06727,AAA36450,P04054,Q9BS22,AAH05386 Hs.992 GDB:120715 MGC119834|MGC119835|PLA2|PLA2A|PPLA2 phospholipase a2, group ib 2289606 BW476_H protein-coding 731016 PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid) 619597,1300048,1580863 9272153,11256614,18192373,18089561,18037706,17892360,17565722,17545304,17447002,17264305,17164967,17029400,16710414,16617059,16603549,16585943,16461407,16381901,16368710,16278219,16253130,16177112,15964894,15897607,15802623,15576846,15489336,15489334,15318030,15259375,15007070,14639048,14499668,12773489,12694401,12626587,12616631,12574380,12501175,12477932,12456890,12359734,12244093,12085323,11903045,11839587,11752212,11076863,10771478,10747008,9848887,9811056,9695991,9538252,9155583,8838795,8824283,8399335,7781071,7721806,7664108,3240982,3202859,2925633,2925608,2775276,2708461,2239446,2062381,2046470,1948070,9745929,9377118,16189514,15688033 619597 5320 NM_000300,AF154852,AF154853,AF224774,AF368841,AL358253,AY462114,CH471134,M22431,AK291302,AY656695,AY656696,BC005919,CR456865,CR591563,CR593348,CR596161,CR600125,CR603279,CR605782,CR609269,CR610647,CR611816,CR616360,CR622866,M22430 NP_000291,AAK57824,AAK57825,AAG49535,AAM21271,CAH74017,AAR16084,EAW94907,EAW94908,EAW94909,EAW94910,AAA36549,BAF83991,AAT73043,AAT73044,AAH05919,CAG33146,AAA36550,P14555,Q0JSZ7,Q6DN23,Q8NI47,Q96RW8,Q96RW9,Q9C011,CAL38367,ABM84083,ABM87450 Hs.466804 GDB:120296 MOM1|PLA2|PLA2B|PLA2L|PLA2S|PLAS1|sPLA2 protein-coding 1349993 PLA2G2C phospholipase A2, group IIC 8838795 391013 NM_001105572,Z98257 NP_001099042,CAI20258,Q5R387 Hs.512512 GDB:9864729 protein-coding 1320432 PLA2G2D phospholipase A2, group IID 1580863 10455175,16897354,16710414,16381901,16002569,15489336,15489334,15379211,15052324,12975309,12895207,12477932,12396716,11196711,11076863,9745929,9377118 26279 NM_012400,AL158172,CH471134,AF112982,AF188625,AK026347,AK290406,AY358606,BC025706 NP_036532,CAC13159,EAW94915,AAD51390,AAF09020,BAF83095,AAQ88969,AAH25706,Q0JS15,Q6UWX0,Q9UNK4,CAL37796,CAL37832,CAL37855,CAL38474,CAL38699 Hs.189507 GDB:9956531 SPLASH|sPLA2S protein-coding 1320041 PLA2G2E phospholipase A2, group IIE 1580863 10681567,16710414,12477932,11922621,9745929,9377118 30814 NM_014589,AL358253,CH471134,AF189279,BC069116 NP_055404,CAH74016,EAW94906,AAF36541,AAH69116,Q6NTC8,Q9NZK7,AAI40241,AAI41620 Hs.272372 protein-coding 1322150 PLA2G2F phospholipase A2, group IIF 1580863 11112443,16710414,14702039,11877435,9745929,9377118 64600 NM_022819,AL158172,CH471134,Z98257,AF306566,AK093645,BM987713,BX647458 NP_073730,CAI19658,EAW94916,CAI20260,AAG50242,BAC04210,Q9BZM2,AAI56848 Hs.302034 FLJ25429|FLJ36326 protein-coding 1313284 PLA2G3 phospholipase A2, group III PLA2G3 belongs to the family of secreted phospholipase A2 (sPLA2; EC 3.1.1.4) proteins. These Ca(2+)-dependent lipolytic enzymes have a conserved Ca(2+)-binding loop and a his-asp dyad in the catalytic site (Murakami et al., 2003 [PubMed 12522102]).[supplied by OMIM] 1580863 10713052,17980167,17868035,15863501,15489334,12522102,12477932,12127976,10591208,9745929,9377118 50487 NM_015715,AC005005,CH471095,AF220490,BC025316 NP_056530,AAD15617,EAW59941,AAF44746,AAH25316,Q9NZ20,ABM83758,ABM87077 Hs.149623 GDB:11507419 GIII-SPLA2|SPLA2III protein-coding 735872 PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent) This gene encodes a member of the cytosolic phospholipase A2 group IV family. The enzyme catalyzes the hydrolysis of membrane phospholipids to release arachidonic acid which is subsequently metabolized into eicosanoids. Eicosanoids, including prostaglandins and leukotrienes, are lipid-based cellular hormones that regulate hemodynamics, inflammatory responses, and other intracellular pathways. The hydrolysis reaction also produces lysophospholipids that are converted into platelet-activating factor. The enzyme is activated by increased intracellular Ca(2+) levels and phosphorylation, resulting in its translocation from the cytosol and nucleus to perinuclear membrane vesicles. 1580863,1642453,1642456,1642461,1642462,1642465,1642444,1642445,1642446,1642457,1642481,1642443,1642469,1642471 14963030,14769798,14726390,14686920,14609334,12885780,12765847,12477932,12414998,12124392,12050227,12048163,11416127,10978317,10625659,10319815,10085124,9875225,9665851,9468497,9239738,8636128,8612580,8175726,8083230,7999086,7862535,7800505,7782073,1904318,1869522,9745929,9377118,8381049,9430701,18471798,18280113,18029351,17976189,17971499,17901074,17873281,17685590,17672871,17629734,17460547,17344094,17178883,16964243,17081983,16963226,16829784,16754327,16710414,16603549,16585943,16462602,16409471,16407173,16344560,16221889,16181776,15975962,15789617,15489334,15475363,15358156,15331599,15318030,15305015,15302935,15294900,15276701,15259375,15118355,15041036,15007079,15007070 1642453,1642456,1642461,1642462,1642465,1642444,1642445,1642446,1642457,1642481,1642443,1642469,1642471 5321 NM_024420,AL022147,AL049797,AY552098,CH471067,D38177,DQ399336,U01845,U08374,U11239,Z33877,AK290336,BC114340,BX118890,DA451491,M68874,M72393 NP_077734,CAB42689,AAS45712,EAW91217,EAW91218,BAA07375,BAF83025,AAI14341,AAA60105,AAB00789,P47712,Q14064,Q5TFJ2 Hs.497200 GDB:134687 MGC126350|PLA2G4|cPLA2-alpha protein-coding 1318557 PLA2G4B phospholipase A2, group IVB (cytosolic) This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. 1580863 17562024,16617059,16344560,12477932,11741884,10737800,10358058,10085124,9705332,8889548 100137049 NM_001114633,AC020659,AK124489,AK310651,BF372565,BM982475,BQ004235,BX648318,CA488226,CU447449,DA250544 NP_001108105 Hs.198161 GDB:9956267 DKFZp686N12131|FLJ17693|FLJ42498|HsT16992|cPLA2-beta protein-coding 1348684 PLA2G4C phospholipase A2, group IVC (cytosolic, calcium-independent) 10085124,17459165,17417066,17213206,16882668,16181776,15944408,15908428,15788676,15489334,14702039,14529291,12502717,12477932,12396716,12039969,11958371,10708517,9705332,9202034,9745929,9377118 8605 NM_003706,AB105806,AB105807,AB105808,AC010458,AC011466,AY485310,CH471177,AF058921,AF065214,AK022440,AL050193,BC017956,BC063416,CR456816,CR624635 NP_003697,BAC87744,BAC87745,BAC87746,AAR25453,EAW52311,EAW52312,EAW52313,EAW52314,AAC32823,AAC78835,CAB43312,AAH17956,AAH63416,CAG33097,Q6IBI8,Q76EY9,Q76EZ0,Q8WWC5,Q9UP65,EAW52315 Hs.631562 GDB:9956014 CPLA2-gamma|DKFZp586C0423 protein-coding 1352050 PLA2G4D phospholipase A2, group IVD (cytosolic) 737633,1580863 16213696,15489334,14709560,12477932,9745929,9377118 737633 283748 AB090876,BC034571,NM_178034,AC084693,CH471125 EAW92530,BAC67158,AAH34571,Q86XP0,AAI40417,AAI46534,ABM82718,ABM85900,NP_828848,EAW92529 Hs.380225 cPLA2delta protein-coding 1606471 PLA2G4E phospholipase A2, group IVE 16572171,15866882,15489334,14702039,12477932 123745 NM_001080490,AC039056,AK127558,BC101584,BC101612,BX648482 NP_001073959,BAC87034,AAI01585,AAI01613,Q3MJ16 Hs.668060 FLJ45651|MGC126633|MGC126661 protein-coding 1606120 PLA2G4F phospholipase A2, group IVF 16572171,15866882,14702039,12477932,9745929,9377118 255189 NM_213600,AC036103,CH471125,AK122623,AK172836,AL832972,BC035335,BC040920,BC111481,BC131531,BC142682,BC146648,BM986790,CR749451 NP_998765,EAW92531,EAW92532,EAW92533,EAW92534,BAD18801,AAH35335,AAI31532,AAI42683,AAI46649,Q68DD2,Q8IUP3,CAH18288 Hs.231873 DKFZp666G192|DKFZp781B229|PLA2G4F/Z protein-coding 735328 PLA2G5 phospholipase A2, group V This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. 1300048,1580863 8300559,17545304,16794232,16785555,16710414,16601231,16476735,16146426,16115226,16040605,15489334,15377291,15259375,14702039,12963740,12796497,12477932,12423354,12124392,11741884,11522612,11080676,10873151,10839997,10751642,10531350,9767110,8889548,8838795,9745929,9377118 5322 NM_000929,AL158172,AY524778,CH471134,AK097693,AV709457,BC036792,BM684907,BM705479,BX648966,CR607562,U03090 NP_000920,CAC13158,AAR92480,EAW94911,EAW94912,EAW94913,AAH36792,AAC28886,P39877 Hs.319438 GDB:307456 DKFZp686C2294|GV-PLA2|MGC46205|PLA2-10|hVPLA(2) protein-coding 732454 PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only two of them have been determined to date. 1580863 9417066,18208975,17459165,17275398,17254819,17188740,17082190,17033970,17003039,16966332,16943248,16799181,16783378,16585943,15573142,15489334,15461802,15385540,15364929,15318030,15252038,15249229,15052324,15007079,14749286,14702039,14634037,12477932,12423354,12208880,10591208,10336645,10092647,9079687,9745929,9377118 8398 NG_007094,AF116267,AF117692,AL021977,AL022322,AY522921,CH471095,AF064594,AF102988,AF102989,AK001290,AK096521,AK128862,AK290825,AK291212,AL080187,BC034592,BC036742,BC051904,CR456543,NM_001004426,NM_003560 NP_003551,AAF34728,AAD30424,CAA18446,CAQ10441,CAQ10442,CAQ10443,CAQ10444,CAQ10445,CAQ10446,AAR92478,EAW60219,EAW60220,AAC97486,AAD41722,AAD41723,BAF83514,BAF83901,CAB45768,AAH36742,AAH51904,CAG30429,O60733,CAK54574,CAK54873,NP_001004426 Hs.170479 GDB:9865030 CaI-PLA2|GVI|INAD1|PLA2|PNPLA9|iPLA2 phospholipase a2, group vi protein-coding 1321810 PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) The PLA2G7 gene encodes platelet-activating factor (PAF) acetylhydrolase (EC 3.1.1.47), a secreted enzyme that catalyzes the degradation of PAF to inactive products by hydrolysis of the acetyl group at the sn-2 position, producing the biologically inactive products LYSO-PAF and acetate.[supplied by OMIM] 1581024,1581025,1580863 12782155,12649088,12590019,12548211,12477932,12466264,12428682,12068200,11861667,11850055,11810302,11807372,11501940,11389474,11369691,11294621,11248283,10733466,10362256,9759612,9472966,9412624,9384577,8675689,10748027,18259035,18204052,18094516,18001304,17908960,17587752,17509958,17502572,17251670,17174223,17160904,17090529,16787988,16530769,16438975,16371369,16308493,16223884,15956136,15489334,15364890,15342556,15318030,15215249,15148590,15115767,15081260,14749286,14671207,12801611,7700381,9245731,8624782,7592717,9745929,9377118 1581024,1581025 7941 NM_005084,AL451143,AL591242,CH471081,AK290381,BC025674,BC038452,BP326231,CR608291,CR608325,CR615354,U20157,U24577 NP_005075,CAH73907,EAX04301,EAX04302,BAF83070,AAH38452,AAC50126,AAB04170,Q13093,Q5VTT1 Hs.584823 GDB:9958829 LDL-PLA2|PAFAH protein-coding 1350138 PLA2R1 phospholipase A2 receptor 1, 180kDa 1580863 7721806,12225974,12107411,10922494,10864436,10737800,7925459,11019817 22925 NM_007366,NM_001007267,AC080166,AC093873,CH471058,BC140823,BF725498,BF805380,BQ025507,BQ637466,BX485732,D30780,U17033,U17034 NP_031392,NP_001007268,AAY24052,AAY24190,EAX11391,EAX11392,EAX11393,AAI40824,BAA06444,AAA70110,AAC50163,Q13018 Hs.410477 GDB:9957732 CLEC13C|PLA2-R|PLA2G1R|PLA2IR|PLA2R protein-coding 737277 PLAA phospholipase A2-activating protein 1580863 9931468,18291623,15489334,15164053,14702039,14499668,12477932,11937510,11689694,10644453,10571045,9373149,8125298,2052621,16189514 9373 NM_004253,NM_001031689,AL356133,CH471071,AF083395,AF145020,AJ238243,AK001642,AK002143,AK022761,AK223544,AL133608,BC032551,CR615778,CR619186,CR620267 NP_004244,NP_001026859,CAH72641,EAW58575,AAD03030,AAD42075,CAB42881,BAA91803,BAA92105,BAD97264,CAB63739,AAH32551,Q9Y263,ABW03904,ABW03596 Hs.27182 GDB:9958826 FLJ11281|FLJ12699|PLA2P|PLAP phospholipase a2, activating protein protein-coding 1351974 PLAC1 placenta-specific 1 1580863 10995572,18183594,17983203,17909063,17554801,17186554,16860456,16594548,16303743,15803460,15608456,15489334,14702039,12477932,12412044 10761 NM_021796,AC004383,AL672032,CH471107,CQ783102,AF234654,AK075086,BC022335,BC066327,CR603619,CR604394,CR618096 NP_068568,EAX11757,CAF86310,AAG22596,BAC11392,AAH22335,AAH66327,Q9HBJ0,ABM82312,ABM85488 Hs.496811 GDB:9958249 protein-coding 1603163 PLAC1L placenta-specific 1-like 15489334,14702039,12477932 219990 AP000790,CH471076,CS072271,AK093517,BC036256,BC048121,NM_173801 NP_776162,EAW73862,CAI93409,BAC04191,AAH36256,AAH48121,Q86WS3 Hs.132310 FLJ36198|TMEM122 protein-coding 1349388 PLAC2 placenta-specific 2 16303743,15498874,15489334,12477932 257000 Q8NBU9,Q9NPR7 NM_153375,AC011533,CH471139,CQ783870,AF370401,AK075215,BC036545,BC120980,BC120981,CR591932 NP_699206,EAW69168,CAF86900,AAQ15237,BAC11478,AAH36545,AAI20981,AAI20982,Q8NBU9,Q9NPR7 Hs.515575 GDB:11507421 FLJ90734 protein-coding 1348343 PLAC4 placenta-specific 4 14702039,12477932,8406465 191585 NM_182832,AL773572,AF269287,AK027868,AK092431,BC093685,BC101615,BC101617,CR607889,L13197 NP_878252,AAG23170,BAC03888,AAH93685,AAI01616,AAI01618,Q8NAM4,Q8WY50 Hs.472492 GDB:11507423 MGC126664|MGC126666 protein-coding 1344285 PLAC5 placenta-specific 5 191586 BG354571 GDB:11507425 protein-coding 1345117 PLAC7 placenta-specific 7 191587 BG354573 Hs.656741 GDB:11508682 protein-coding 1317680 PLAC8 placenta-specific 8 16189514,12758124,12477932,12384430,11042152 51316 NM_016619,AC073840,CH471057,AF208846,AJ422147,AK000140,BC012205,CR621787 NP_057703,EAX05923,EAX05924,EAX05925,AAF64260,CAD19530,AAH12205,Q96EJ4,Q9NZF1 Hs.546392 GDB:11510576 C15|onzin protein-coding 1342779 PLAC8L1 PLAC8-like 1 153770 NM_001029869,AC091887,CH471062,BC130586,BC130588 NP_001025040,EAW61851,AAI30587,AAI30589,A1L4L8 Hs.162369 protein-coding 1315403 PLAC9 placenta-specific 9 15489334,15164054,12758124,12477932 219348 NM_001012973,AL356095,CH471142,BC066348,BC090922,BC117332,BC117334 NP_001012991,CAI40449,CAI40450,CAI40451,EAW80406,EAW80407,EAW80408,AAH66348,AAH90922,AAI17333,AAI17335,Q5JTB4,Q5JTB5,Q5JTB6,ABZ92525 Hs.204947 GDB:11510578 MGC104710 protein-coding 1313225 PLAG1 pleiomorphic adenoma gene 1 Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. 1599086,1580863 15585652,15262430,15231748,15208321,14695992,12477932,11894114,11888928,9722527,18269579,17693184,17332914,16736500,16344560,16108035,15930271,15920557,15642402,11882654,10646861,10029085,9525740,9268638,9020842 1599086 5324 NM_002655,NM_001114634,NM_001114635,A69511,AC107952,CH471068,AB209131,BC075047,BC075048,DA225321,DC347559,U65002 NP_002646,NP_001108106,NP_001108107,CAB42491,EAW86774,EAW86775,BAD92368,AAH75047,AAH75048,AAC50995,Q6DJT9,ABZ92429 Hs.14968 GDB:9834657 PSA|SGPA protein-coding 736872 PLAGL1 pleiomorphic adenoma gene-like 1 This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activity. This gene has been shown to exhibit antiproliferative activities and is a tumor suppressor gene candidate. Many transcript variants encoding two different isoforms have been found for this gene. 1580863 15888725,9184226,9671765,15888726,17805016,17341487,17178896,16928428,16873690,16809786,16733217,16344560,16179495,16112421,15592663,15581945,15286800,15231748,14702039,12529403,12477932,12473647,11935319,11360197,11313869,10655556,10597250,9722527,9158001,9150364 5325 NM_001080951,NM_001080955,NM_002656,NM_001080952,NM_006718,NM_001080956,NM_001080953,NM_001080954,AL031390,AL049844,AL109755,CH471051,CQ834142,CQ834144,AI741398,AJ006354,AJ303119,AJ311395,AK091707,AK096331,BC074814,BC109085,BC109086,BX537397,CR749329,DA391124,DA426770,DA446007,DA549753,DA595200,DA991276,EF100438,EF100440,EF100442,EF100443,EF100444,EF100445,EF100446,EF100447,EF100448,EF100449,EF100450,EF100451,EF100452,U72621,U81992 NP_001074420,NP_001074424,NP_002647,NP_001074421,NP_006709,NP_001074425,NP_001074422,NP_001074423,CAB56564,CAI21447,CAI21448,EAW47852,EAW47853,EAW47854,EAW47855,EAW47856,CAH05286,CAH05287,CAA06994,CAC39614,CAC39615,AAH74814,AAI09086,AAI09087,CAD97639,CAH18183,ABM54075,ABM54077,ABM54079,ABM54080,ABM54081,ABM54082,ABM54083,ABM54084,ABM54085,ABM54086,ABM54087,ABM54088,ABM54089,AAB67041,AAC34250,Q5TFH3,Q68DN7,Q9UM63 Hs.444975 GDB:9834721 DKFZp781P1017|LOT1|MGC126275|MGC126276|ZAC|ZAC1 protein-coding 1317514 PLAGL2 pleiomorphic adenoma gene-like 2 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. 1580863 9722527,17950244,17618602,17462995,15585652,15489334,15361364,12477932,11780052,11498794,8724849 5326 NM_002657,AL121897,CH471077,CQ834146,AF006005,AK026951,AK292450,BC023655,D83784 NP_002648,CAC16423,EAW76386,EAW76387,CAH05288,AAC34252,BAF85139,AAH23655,BAA12113,Q9UPG8,ABM83213,ABW03483 Hs.154104 GDB:9834722 FLJ23283 protein-coding 736468 PLAT plasminogen activator, tissue This gene encodes tissue-type plasminogen activator, a secreted serine protease which converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. Tissue-type plasminogen activator is synthesized as a single chain which is cleaved by plasmin to a two chain disulfide linked protein. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding; decreased activity leads to hypofibrinolysis which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. 1580875,1580876,1580877,1580878,1580879,1580880,1580881,1580863 3839198,3087818,2503541,2962641,18449420,18202522,18194423,18057060,18037995,18023202,17689414,17681507,17661167,17649957,17636064,17608581,17473573,17458906,17419735,17408411,17320454,17287634,17264956,17257155,17207964,17151781,17145060,17064755,17003923,16953275,16879221,16839347,16836660,16828203,16733850,16706993,16614319,16466010,16410064,16385091,16369808,16356191,16344560,16320350,16248996,16179568,16113755,16015279,15976969,15916851,15869598,15861134,15846799,15721275,15652516,15629242,15550028,15542697,15541709,15489334,15448144,15269833,15140132,15119966,15116264,15109703,15080889,15031453,15016824,14983221,14759258,14746139,14697941,14630788,14608053,14592829,14529669,14500731,12941043,12913003,12891381,12794725,12727218,12726991,12719778,12719777,12694198,12643326,12589088,12544772,12544724,12524082,12484521,12477932,12468767,12468550,12445472,12390834,12354288,12228252,12167592,12123488,12090757,12023848,11988309,11986218,11978811,11963567,11928826,11928812,11864708,11864703,11858184,11848437,11816707,11734662,11507973,11450845,11385207,11384978,11371191,11170397,10956663,10632583,9988531,9434908,9359841,9305622,9268299,8613982,8607113,8533091,8366113,8360181,7876253,7721771,7586269,7582899,6682760,6572897,6538515,6538514,6433976,6337343,6089198,3896853,3161893,3133640,3126346,3103680,3090401,3090045,3088041,3009482,2838384,2824147,2745554,2558718,2551064,2513186,2496749,2110366,2107528,2107490,11734664,1930175,1909331,1901789,1900431,1783394,1762144,1645336,1602484,1502153,1368681,1310033,1301152,16189514 1580875,1580876,1580877,1580878,1580879,1580880,1580881 5327 NM_033011,NM_000930,A01465,AC083973,AC103724,AY291060,CH471080,CS123925,K03021,L00153,M11890,X77531,X13097,A03776,A07197,BX641021,X07393,AF260825,AK289387,AK290575,AY221101,BC002795,BC007231,BC013968,BC018636,BC095403,BT007060,CR623908,D01096,DA031108,DA549782,M15518,M18182,V00570,X02901 NP_127509,NP_000921,CAA00166,AAP34246,EAW63231,EAW63232,EAW63233,EAW63234,EAW63235,CAJ18783,AAA98809,AAB59510,AAA61213,CAA54669,CAA30302,CAA31489,P00750,Q5HYM8,Q6LBF5,CAA00299,CAA00642,CAI46259,ABM84425,ABM87486,AAK11956,BAF82076,BAF83264,AAO34406,AAH02795,AAH07231,AAH13968,AAH18636,AAH95403,AAP35709,BAA00881,AAA60111,AAA36800,CAA23833 Hs.491582 GDB:119496 DKFZp686I03148|T-PA|TPA protein-coding 735727 PLAU plasminogen activator, urokinase This gene encodes a serine protease involved in degradation of the extracellular matrix and possibly tumor cell migration and proliferation. A specific polymorphism in this gene may be associated with late-onset Alzheimer disease and also with decreased affinity for fibrin-binding. The protein encoded by this gene converts plasminogen to plasmin by specific cleavage of an Arg-Val bond in plasminogen. This gene's proprotein is cleaved at a Lys-Ile bond by plasmin to form a two-chain derivative in which a single disulfide bond connects the amino-terminal A-chain to the catalytically active, carboxy-terminal B-chain. This two-chain derivative is also called HMW-uPA (high molecular weight uPA). HMW-uPA can be further processed into LMW-uPA (low molecular weight uPA) by cleavage of chain A into a short chain A (A1) and an amino-terminal fragment. LMW-uPA is proteolytically active but does not bind to the uPA receptor. 1580895,1580896,1580863 10749881,6589620,2544876,18376415,16967469,16949925,16908524,16858643,16855359,16825821,16825285,16807059,16806969,16794252,16761300,16728704,16685447,16685436,16632475,16604464,16601839,16547007,16525631,16509805,16504015,16461772,16459332,16456079,16267271,16236890,16127174,16113755,16102112,16077991,16008557,15996887,15988036,15944400,15937335,15927351,15886816,15885322,15881651,15880258,15868845,15854129,15849510,15831288,15750768,15728176,15653692,15646834,15629242,15616835,15615772,15558716,15515049,15494526,15489334,15375521,15371454,15356878,15326109,15262029,15243126,15231498,15217951,15210852,15149885,15083890,15067375,14983227,14983219,14769799,14747469,14744782,18355442,18240004,18237545,18208536,18202522,18193533,18076013,18053985,17994220,17986506,17974965,17949787,17934860,17923479,17921261,17880283,17877801,17709546,17681345,17661167,17657740,17649957,17638874,17611702,17581316,17559626,17549401,17548050,17545513,17532189,17523079,17458906,17363771,17344041,17331567,17299841,17299802,17264329,17258797,17240317,17233842,17203182,17203175,17192053,17187779,17174555,17159381,17083312,17080225,17029796,17013094,14704150,14681909,14644829,14597629,14534291,14531820,14517288,14507113,12960238,12941043,12930304,12926141,12898287,12883725,12881310,12832381,12773490,12771144,12764090,12754271,12743986,12736046,12719789,12719778,12708473,12704669,12684636,12642587,12576295,12574820,12556966,12529357,12477932,12477728,12430175,12393547,12377770,12353084,12236587,12218297,12183060,12174885,12167592,12161038,12152683,12149463,12115506,12084931,12041678,12023847,12008951,11956327,11930938,11928818,11928816,11928812,11928809,11928807,11928806,11906036,11880102,11876553,11858184,11827968,11805108,11751384,11501527,11394884,11384978,11266465,11023511,10996659,10962009,10805774,10788498,10636902,10362070,10361124,10221568,9824347,9766559,9680361,9566979,9516128,9365930,9194591,9151681,9143604,9065988,8895530,8652631,8591045,8428004,8388810,8344937,8270642,8227186,8107091,8033079,7867716,7721771,7592875,7559792,7548163,6754572,6754569,6749491,4226004,3933505,3920216,3888571,3840278,3090045,3031025,3023326,2987867,2829380,2752144,2536903,2415429,2166055,2161846,2023947,10505055,1900515,1551416,1499567,1334458,1327118,134998,14982725,8676469,9184208,16189514 1580895,1580896 5328 NM_002658,A21571,AF377330,AL596247,CH471083,CS123918,K02286,K03027,X02419,AB208961,AY029537,AY820134,BC013575,BI759308,BI833559,BQ920793,BT007391,BX360462,CB959931,D00244,D11143,K03226,M15476,X02760,Z36790,A18397,A35395 NP_002649,CAA01559,AAK53822,CAI13969,CAI13970,EAW54544,EAW54545,CAJ18774,AAA61252,AAA61257,CAA26268,BAD92198,AAK38734,AAV70488,AAH13575,AAP36055,BAA00175,BAA01919,AAC97138,AAA61253,CAA26535,P00749,Q53XS3,Q59GZ8,Q5PY49,Q5SWW8,Q5SWW9,Q96SE8,Q9UEJ5,CAA01390,CAA02215,ABM84743 Hs.77274 GDB:119497 ATF|UPA|URK|UROKINASE|u-PA protein-coding 735638 PLAUR plasminogen activator, urokinase receptor This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. 1580897,1580863 17549401,17548471,17548516,17523079,17517866,17510314,17507651,17487556,17427199,17344041,17330942,1689240,8392005,14688365,10749881,12493773,8049431,18376415,18097558,18084301,18056417,18021410,17963689,17880283,17706320,17664334,17319000,17297470,17264329,17237151,17145753,17101149,17079488,17028265,17001307,16949925,16912170,16905120,16893520,16858643,16756681,16685436,16632475,16602701,16601839,16564525,16525631,16516155,16510444,16504015,16497155,16467878,16456079,16395714,16267271,16216813,16127174,16077991,16010978,15951330,15922359,15894933,15885322,15866865,15863511,15861141,15851910,15849776,15841307,15831288,15824107,15728176,15711734,15684035,15677461,15573379,15543615,15521066,15515049,15494526,11384978,11359936,11728456,11501527,15494432,15489334,15381392,15375521,15358545,15326109,15302576,15285727,15243126,15188055,15122709,15057824,15044324,15042374,12761227,12736046,12708473,12704669,12665524,12665127,12479856,12477932,12405290,12393744,12393547,12376466,12297505,12244126,12195704,12194987,12180971,12174885,12138365,12130664,12124797,12115506,12084931,12070711,12023847,12023845,12017319,11959893,11928822,11928816,11928807,11928806,11903048,11814408,11756447,11290596,11097855,11051819,10744708,10722370,10636902,10537314,9974409,9417082,9353320,9030717,8830783,8394346,7605992,7566098,3031025,3023326,2544876,2156852,1846368,1325912,1324136,1316922,1311495,10388537,16189514,15889147,15032076,15031672,15031282,14995994,14961171,14764580,14764427,14729600,14702177,14660675,14602715,14601049,14563447,14531820,14520707,14517339,14517288,14507113,14500474,12960238,12952933,12933356,12881310 1580897 5329 NM_001005376,NM_001005377,NM_002659,AC005525,AC006953,AY194849,AY620435,AY620436,AY620437,CH471126,S78532,U09346,U09937,AA337688,AA643630,AF257789,AI801128,AK290774,AY029180,BC002788,CR456952,CR591481,CR601067,CR606767,CR611518,M83246,U08839,U09347,X51675,X74039,A18757 NP_001005376,NP_001005377,NP_002650,AAC32739,AAD17387,AAD17388,AAD17389,AAN86351,AAT52166,AAT52167,AAT52168,EAW57215,EAW57216,EAW57217,EAW57218,EAW57219,EAW57220,AAD14289,AAA17979,AAB60690,AAF71751,BAF83463,AAK31795,AAH02788,CAG33233,AAA59862,AAB60333,AAA17978,CAA35981,CAA52191,Q03405,Q6GY32,Q9UPI5,CAA01421,ABM83943,ABM87261 Hs.466871 GDB:127546 CD87|UPAR|URKR protein-coding 1346755 PLB1 phospholipase B1 737633 14702039,12477932,12150957,12804600 737633 151056 NM_153021,AC074011,AC093164,AX492941,CH471053,BC042674,BC065041,BC150633,BC153864,CR600701,CR612785 NP_694566,AAY24081,AAY24082,EAX00532,EAX00533,EAX00534,EAX00535,EAX00536,AAH42674,AAH65041,AAI50634,AAI53865,Q6P1J6 Hs.444933 PLB protein-coding 733094 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. 1581031,1300048,1580863 11118617,10760467,2841328,9198220,18203956,17620288,17393430,17363325,17335878,17041247,16916647,16860758,16136505,15782111,15623527,15489334,15085153,14702039,12821674,12482669,12477932,12213492,12193606,12168954,11941371,11880496,11780052,11753430,11481231,11287604,11278470,11148035,10980202,10843712,10501179,9730685,9651375,9628581,9278385,8878798,7589147,1979339 1581031 23236 AJ278313,AJ278314,AK023689,AK127693,AL137267,AY004175,BC069420,BC117231,NM_182734,NM_015192,AL021406,AL031655,AL031683,AL034551,AL049593,AL049632,AL050315,AL050319,AL050323,AL121589,AL365212,CH471133,AB011153 CAB98142,CAB98143,BAB14641,CAB70666,AAF86613,AAH69420,AAI17232,Q17RQ6,Q5JXN4,Q5JXW6,Q5TGC8,Q8IV91,Q8IV92,Q9NQ66,NP_877398,NP_056007,CAD56150,CAD56151,CAI43121,CAI43122,EAX10372,EAX10373,EAX10374,EAX10375,EAX10376,BAA25507 Hs.431173 GDB:9955410 FLJ45792|PI-PLC|PLC-154|PLC-I|PLC154 protein-coding 732409 PLCB2 phospholipase C, beta 2 1300048,1580863,737745,1302588 1644792,7649993,17497434,17478077,17429106,16525635,16344560,15939402,15611108,15509571,15274049,14702039,12761218,12657629,12482669,12477932,12388553,12054652,12050180,12033943,11753430,11118617,10980202,10843712,10501179,9925923,9730685,9723859,9278385,7589147,1979339,11941371,16189514,15623527 737745,1302588 5330 NM_004573,AC020658,CH471125,AB209583,AK095454,AK130831,AK291657,BC000939,BC009009,BT006905,BU147302,CR601877,DA981116,M95678 NP_004564,EAW92402,EAW92403,BAD92820,BAC85441,BAF84346,AAH00939,AAH09009,AAP35551,AAA36453,Q00722,Q59F77,Q6ZNQ9,Q9BVT6 Hs.355888 GDB:134815 FLJ38135 protein-coding 731269 PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific) PLCB3 plays an important role in initiating receptor-mediated signal transduction. Activation of PLC takes place in many cells as a response to stimulation by hormones, growth factors, neurotransmitters, and other ligands (Lagercrantz et al., 1995 [PubMed 7607669]).[supplied by OMIM] 737745,1300048,1580863,737799 17492941,17081983,16763092,15998840,15782111,15623527,15302935,14702039,12821674,12482669,11325525,11278298,11178984,11118617,10843712,10748198,10748023,10501179,9730685,9714794,9651375,9278385,7849701,7789993,7612006,7607669,7589147,1333955,1979339 737745,737799 5331 NM_000932,AP001453,CH471076,U26425,Z37544,BC032659,BC041625,BC142681,BC146645,Z16411,Z26649 NP_000923,EAW74230,EAW74231,AAA77683,CAA85776,AAH32659,AAI42682,CAA78903,Q01970,Q8N1A4 Hs.591953 GDB:386061 FLJ37084 protein-coding 733727 PLCB4 phospholipase C, beta 4 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Two transcript variants encoding different isoforms have been found for this gene. 1300048,1580863,1302587 16767099,17081983,14702039,12482669,12477932,11780052,11329013,10843712,10501179,9730685,9278385,8672127,8530101,7589147,1979339 1302587 5332 AK122699,AL117633,AL844332,BC117458,BG220268,BI439140,BX648680,CR619695,L41349,NM_000933,NM_182797,AL023805,AL031652,AL121898,AL121909,CH471133,AK025027,AK054754,AK057634 AAI17459,AAB02027,Q15147,Q5JYS7,Q5JYS9,Q5JYT1,Q5JYT3,Q5JZ24,Q5JZ25,Q5JZ26,Q5JZ27,NP_000924,NP_877949,CAI42213,CAI42214,CAI42218,EAX10364,EAX10365,EAX10366,EAX10367,EAX10368,EAX10369,EAX10370 Hs.472101 GDB:547787 FLJ16169|PI-PLC protein-coding 733331 PLCD1 phospholipase C, delta 1 1302551,1580863 9588182,15702972,18006814,17041247,16344560,16240320,15817490,15809301,15509571,15037625,14702039,14550290,12761218,12482669,12477932,11960991,11706040,11336645,10843712,10501179,9730685,9512491,9345909,9278385,9056492,7890667,7589147,1979339,12805215,15861130 1302551 5333 NM_006225,AC144536,CH471055,AB209862,AK090774,AK098690,AK127813,AK292324,BC050382,CR613815,DA017409,U09117,BX647927 NP_006216,EAW64507,BAD93099,BAF85013,AAH50382,AAA73567,P51178,Q59EE9,Q5HYD7,Q86VN8,CAI46087 Hs.80776 GDB:6075994 protein-coding 1322076 PLCD3 phospholipase C, delta 3 This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. 1580863 16344560,15231748,12477932,11853319,11706040,11500033,10702670,10336610,9799116,9360711,9056492,1979339,12482669,10843712,10501179,9730685,9278385,7589147 113026 NM_133373,AC002117,AC142472,CH471178,AB075844,AK074240,AL834392,BC010668,BC072384,BU621728,DA128483 NP_588614,EAW51544,EAW51545,EAW51546,EAW51547,BAB85550,BAB85029,CAD39054,AAH10668,AAH72384,Q8N3E9 Hs.380094 GDB:9862666 MGC71172 protein-coding 1346447 PLCD4 phospholipase C, delta 4 17394098,16189514,15140260,15037625,14702039,12482669,12477932,11706040,10843712,10702683,10501179,9730685,9373149,9278385,8125298,7589147,1979339 84812 NM_032726,AC012510,CH471063,AB209599,AK023083,AK057186,AK223203,AY512961,BC006355 NP_116115,EAW70627,EAW70628,EAW70629,BAD92836,BAD96923,AAS82574,AAH06355,Q59F62,Q9BRC7,ABM86830,ABW03854 Hs.632528 GDB:10796396 MGC12837 protein-coding 1606000 PLCE1 phospholipase C, epsilon 1 PLCE1 belongs to the phospholipase family that catalyzes the hydrolysis of polyphosphoinositides such as phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) to generate the second messengers Ins(1,4,5)P3 and diacylglycerol. These products initiate a cascade of intracellular responses that result in cell growth and differentiation and gene expression.[supplied by OMIM] 1979339,11022048,11022047,17086182,18065803,17942568,17449496,17373700,16565089,16537651,16483931,16293787,15558028,15164054,15157671,14702039,12878163,12721365,12482669,12477932,12444546,11877431,11715024,11395506,10843712,10819331,10501179,9730685,9278385,7589147 51196 NM_016341,AL139118,AL139124,AL365510,AL389885,CH471066,AB040949,AF117948,AF170071,AF190642,AK022543,AK074239,AK289852,AY995135,BC151854 NP_057425,CAH70739,CAH70740,CAI16674,CAI16675,CAH73757,CAH73758,CAH73288,CAH73289,EAW50042,EAW50043,BAA96040,AAF22005,AAG28341,AAG17145,BAB14090,BAF82541,AAY45890,AAI51855,Q5VWL4,Q9P212 Hs.655033 GDB:11502957 FLJ23659|KIAA1516|MGC167842|NPHS3|PLCE protein-coding 735936 PLCG1 phospholipase C, gamma 1 The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. 1300048,1580863,1302579 14722116,7681365,15702972,10350061,11048639,17991733,10873601,17562871,17561467,17561374,17419608,17372230,17336371,17242406,17148460,17130290,17111345,17081983,17023658,16921170,16764945,16341594,15996687,15972651,15953601,15951569,15944397,15872086,15766521,15744307,15654973,15623534,15592455,15563458,15556869,15329338,15270728,12061819,11956228,11941371,11886851,11823862,11780052,11779129,11409699,11390650,11390470,11368773,11353454,11312102,11259588,11094073,11071635,11043766,10980614,10940929,10926122,10913276,10899172,10843712,10823839,10783152,10770799,10692392,10652211,10586033,10501179,10488157,10473113,10467411,10455176,10430888,9891995,9743338,9730685,9729044,9712732,9697839,9600074,9535722,9516477,9489702,15252117,15184383,15161916,15153499,15144186,15123640,15062102,14989173,14702343,14647465,14568990,14523024,13129935,12960351,12937273,12890670,12845332,12788694,12771140,12646582,12601080,12598525,12514734,12507498,12496421,12482669,12454018,12419535,12163161,12085993,9398617,12084069,12071848,9344857,9314836,9299537,9281317,9278385,9231720,9207933,9178760,9174053,9164868,9045685,8995379,8918464,8910519,8905292,8892607,8885868,8672127,8662733,8660853,8657103,8628282,8627166,8596638,8443409,8386518,8384556,8290562,8155326,8084603,7999363,7799925,7761838,7682059,7657612,7629168,7589147,7536744,7535778,7518429,7513258,7512571,7510703,3254788,2167438,1715690,1689310,1683701,1676673,1639386,1500851,1383690,9344703,9808187,7774645,1979339,9047383,15117958,10022833,14744865,15696170,2176151,2173144,7876130,7689724,7592796,8388538,8890167 1302579 5335 NM_002660,NM_182811,AL022394,CH471077,DQ297143,U80983,AB210028,AF147391,AL110247,BX415739,BX434193,M34667 NP_002651,NP_877963,CAA18537,EAW75989,EAW75990,EAW75991,EAW75992,EAW75993,ABB84466,AAB70663,BAE06110,CAB53696,AAA36452,P19174,Q4LE43,Q6LC80,Q9BQY5,Q9UFY1 Hs.268177 GDB:120299 PLC-II|PLC1|PLC148|PLCgamma1 protein-coding 732989 PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) Enzymes of the phospholipase C family catalyze the hydrolysis of phospholipids to yield diacylglycerols and water-soluble phosphorylated derivatives of the lipid head groups. A number of these enzymes have specificity for phosphoinositides. Of the phosphoinositide-specific phospholipase C enzymes, C-beta is regulated by heterotrimeric G protein-coupled receptors, while the closely related C-gamma-1 (PLCG1; MIM 172420) and C-gamma-2 enzymes are controlled by receptor tyrosine kinases. The C-gamma-1 and C-gamma-2 enzymes are composed of phospholipase domains that flank regions of homology to noncatalytic domains of the SRC oncogene product, SH2 and SH3.[supplied by OMIM] 1300048,1580863,1302581 15644415,2841328,9280292,18095154,18022864,18000612,17023658,16249387,16172125,15972651,15953601,15744341,15509800,15489334,15187135,15184383,15144186,14978237,14606067,12813055,12771181,12514734,12482669,12477932,12470302,12359094,12181444,12135708,12093870,12049640,11507676,11507089,11390470,11274146,10933389,10843712,10770799,10706702,10623845,10501179,10469124,10467411,10025672,9819383,9730685,9398617,9278385,8980110,8885868,8395016,8226808,8093016,7835906,7682059,7589147,7578066,2849563,1979339,16189514 1302581 5336 NM_002661,AC092142,AC098966,AC099524,CH471114,AB208914,AW504432,AY364256,BC007565,BC011772,BC014561,BC018646,M37238,X14034 NP_002652,EAW95524,EAW95525,EAW95526,BAD92151,AAQ76815,AAH07565,AAH11772,AAH14561,AAH18646,AAA60112,CAA32194,P16885,ABM84450,ABM87513 Hs.413111 GDB:341913 phospholipase c, gamma 2 protein-coding 1349228 PLCH1 phospholipase C, eta 1 737633 15702972,15583837,15345747,14702039,12477932,10470851,1979339 737633 23007 AK022610,AK096620,AY691170,AY691171,BC043248,NM_014996,AC012022,CH471052,AB028992,BC113950,CR749869 BAB14129,AAW22607,AAW22608,NP_055811,EAW78747,EAW78748,EAW78749,BAA83021,AAH43248,AAI13951,CAH18710,Q4KWH8 Hs.567423 DKFZp434C1372|MGC117152|PLCL3|PLCeta1 phospholipase c-like 3 protein-coding 1346590 PLCH2 phospholipase C, eta 2 737633,1580863 16107206,15899900,15583837,12477932,9455484,1979339 737633 9651 BC128207,NM_014638,AL139246,AL513477,AL513531,CH471183,AB007919,AK074149,AK122589,AK122591,BC019679,BC037356,BC043358,BC044630,BC050037,BC128208,DQ176850 NP_055453,EAW56101,EAW56102,EAW56103,EAW56104,BAA32295,BAB84975,BAC56930,BAC56932,AAH19679,AAH43358,AAH50037,AAI28208,AAI28209,ABA12209,O75038,Q5TA85,Q5TA86,Q5TA87,Q5TA88,Q86YU9 Hs.170156 PLC-eta2|PLCL4|PLCeta2|RP3-395M20.1 phospholipase c-like 4 protein-coding 733121 PLCL1 phospholipase C-like 1 1580863 7633416,16952428,12477932,8818658 5334 NM_006226,NM_001114661,AC013478,AC020719,AC092599,CH471063,AK127514,BC101531,BC111985,BX537442,D42108 NP_006217,NP_001108133,AAY14733,EAW70174,AAI01532,AAI11986,CAD97684,BAA07688,Q15111 Hs.153322 GDB:699207 MGC126580|MGC138190|PLC-L|PLCE|PLCL|PLDL1 130kda-ins(1,4,5)p3 binding protein protein-coding 1314267 PLCL2 phospholipase C-like 2 10581172,10470851,8889549,16189514,15231748,14702039,12477932,12421765 23228 NM_015184,AC090943,AC091491,CH471055,AB029015,AK023546,AK291419,AL117515,BC036392,CR601279,N93050 NP_055999,EAW64282,EAW64283,BAA83044,BAB14606,BAF84108,CAB55974,AAH36392,Q9UPR0 Hs.202010 GDB:9955402 FLJ13484|KIAA1092|PLCE2 protein-coding 1349595 PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 1580863 16344560,14702039,12477932 55344 NM_018390,BX000483,BX537334,CH471225,AK002185,AK091006,AK097346,BC000888,BC005028,BC032072,BC033659,BC064136,DA840761 NP_060860,EAW66821,EAW66822,BAA92127,BAC05008,AAH05028,Q8N844,Q9NUJ7 Hs.522568 FLJ11323|LL0XNC01-136G2.1 protein-coding 1345610 PLCXD2 phosphatidylinositol-specific phospholipase C, X domain containing 2 1580863 14702039,12477932 257068 NM_153268,AC055748,AC117509,CH471052,CQ859812,AK056141,BC121155,BC121156 NP_695000,EAW79695,CAH25956,BAB71103,AAI21156,AAI21157,Q0VAA5 Hs.668529 FLJ31579 protein-coding 1604168 PLCXD3 phosphatidylinositol-specific phospholipase C, X domain containing 3 345557 NM_001005473,AC008830,AC020940,AC094082,AK124638,AK127142,BX501895,BX648329,CS300763 NP_001005473,CAK32427,CAH56150,Q63HM9,AAI48399,AAI56735 Hs.145404 protein-coding 1347399 PLCZ1 phospholipase C, zeta 1 1580863 18003622,17933795,17196844,14702039,12416999,12117804,1979339 89869 NM_033123,AC087242,CH471094,AF532185,AK097555,AK097725,AK292279,AY035866,BC125067 NP_149114,EAW96388,EAW96389,EAW96390,AAN71895,BAC05099,BAC05152,BAF84968,AAK61372,AAI25068,Q08AQ7,Q86YW0,Q8N7S5,Q8N7X7,Q96J70 Hs.97542 GDB:11510580 MGC149685|NYD-SP27|PLCzeta protein-coding 70829 PLD1 phospholipase D1, phosphatidylcholine-specific Phosphatidylcholine (PC)-specific phospholipases D (PLDs; EC 3.1.4.4) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. A range of agonists acting through G protein-coupled receptors and receptor tyrosine kinases stimulate this hydrolysis. PC-specific PLD activity has been implicated in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis (Hammond et al., 1995 [PubMed 8530346]).[supplied by OMIM] 1580863 8530346,10848592,14718562,18067864,17986621,17853892,17726467,17724165,17640750,17627030,17433303,17130901,17081983,17071135,17069807,16978840,16919239,16873675,16622417,16608858,16517737,16449386,16341931,16339545,16109716,15668389,15489334,15339843,15210717,15067001,14744865,14646617,14596936,12839565,12813467,12782287,12615079,12593858,12477932,12429840,12388543,12379803,12376551,12149127,12014986,12011045,11950936,11950840,11830497,11821392,11459228,11389680,11373276,11311142,11259428,11032811,10926929,10747870,10441128,10090765,9858822,9761774,9688545,9582313,9565577,9395408,9207251,9013646,12697812,14702039 5337 NM_002662,AC008134,AC078953,CH471052,AB209907,AJ276230,AK091897,BC068976,BX648900,U38545 NP_002653,EAW78480,BAD93144,CAB76564,AAH68976,AAB49031,Q13393,Q59EA4 Hs.382865 GDB:6185983 phospholipase d1, phophatidylcholine-specific protein-coding 733873 PLD2 phospholipase D2 Phosphatidylcholine (PC)-specific phospholipases D (PLDs; EC 3.1.4.4) catalyze the hydrolysis of PC to produce phosphatidic acid and choline. Activation of PC-specific PLDs occurs as a consequence of agonist stimulation of both tyrosine kinase and G protein-coupled receptors. PC-specific PLDs have been proposed to function in regulated secretion, cytoskeletal reorganization, transcriptional regulation, and cell cycle control.[supplied by OMIM] 1300048,1580863 9582313,17276458,9395408,17986621,17914593,17640750,17627030,17486117,17486115,16964281,16873675,16824927,16622417,16407827,16381901,16341931,16118212,15919668,15798205,15665518,15548524,15489336,15489334,15282299,15265082,15210717,15052340,15052337,14744865,14718562,14704231,14675200,12782287,12753082,12697812,12646582,12615079,12601529,12519790,12486109,12477932,12446727,12429836,12374567,12149127,11876650,11744693,11741937,11687572,11672434,11373276,11076863,11042115,11032811,11018470,10926929,10801846,10764771,10675563,9858823,9837959,9761774 5338 NM_002663,AC109333,CH471108,AF033850,AF035483,AF038440,AY178289,BC015033,BC056871,CR600915,AB209374,AF038441 NP_002654,EAW90404,EAW90405,EAW90406,AAD04197,AAC24498,AAB96656,AAO21120,AAH15033,AAH56871,O14939,Q0JTX5,Q59FT5,Q6PGR0,Q86YQ7,BAD92611,CAL38027,CAL38028,CAL38037,CAL38479,AAB96655 Hs.104519 GDB:9864392 protein-coding 1317914 PLD3 phospholipase D family, member 3 1580863 9140189,18095154,16580565,16344560,15794758,15489334,15342556,12477932,9813063 23646 NM_001031696,NM_012268,AC010271,AC118344,CH471126,BC000553,BC036327,BC096820,BP304863,CR590703,CR594566,CR595516,CR596227,CR600026,CR616733,CR617265,CR623588,CR623894,CX785201,DA370667,U60644 NP_001026866,NP_036400,EAW56950,EAW56951,EAW56952,EAW56953,EAW56954,EAW56955,EAW56956,EAW56957,EAW56958,EAW56959,AAH00553,AAH36327,AAH96820,AAB16799,Q8IV08 Hs.257008 HU-K4 phospholipase d3 protein-coding 1347934 PLD4 phospholipase D family, member 4 16094384,15489334,12975309,12477932 122618 NM_138790,AL512802,AL583810,CH471061,AY358843,BC015003,CR601706 NP_620145,EAW81887,AAQ89202,AAH15003,Q96BZ4 Hs.407101 C14orf175 chromosome 14 open reading frame 175 protein-coding 1603543 PLD5 phospholipase D family, member 5 14702039,12477932 200150 NM_152666,AL360271,AL445704,AL583845,AL591686,CH471098,AK091691,AK098092,AY391836,AY461578,BC101373,BC101374,BC101375 NP_689879,EAW70111,EAW70112,EAW70113,BAC03722,BAC05230,AAS91020,AAI01374,AAI01375,AAI01376,Q8N7P1 Hs.672452 FLJ40773|MGC120565|MGC120566|MGC120567 protein-coding 1320975 PLDN pallidin homolog (mouse) The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. 1580863 15102850,10610180,16189514,16169070,15489334,14702039,12923531,12576321,12477932,12191018,12019270,9110174,8986625,8619474,8608138,2968981,11936273 26258 NM_012388,AC090527,CH471082,AF080470,AF131859,AK057545,AK128626,BC004819,BC026289 NP_036520,EAW77330,AAF08343,AAH04819,Q9UL45 Hs.7037 GDB:11501054 PA|PALLID protein-coding 731690 PLEC1 plectin 1, intermediate filament binding protein 500kDa The product of this gene belongs to the plakin or cytolinker family of genes. The encoded protein is involved in cytoskeleton-membrane attachment in epithelial cells, muscle, and other tissues. It also may regulate changes of lymphocyte cytoarchitecture during polarization and extravasation. This gene has alternative splicing of different 5' exons to the first constant exon, which generates transcript variants that encode distinct isoforms. 1599911 8696340,8633055,18155192,18084872,17662978,17515952,17397861,17081983,16565220,16507904,16097034,16083285,15951569,15817481,15810881,15654962,15635413,15592455,15500642,15302935,15231748,14966116,14672974,12791251,12577067,12542521,12482924,12477932,12136158,11851880,11441066,11328943,11172097,11159198,10891503,10525545,10446808,9808630,8895530,8894687,8830774,8698233,8636409,8626512,3027087,2023931 1599911 5339 NM_201378,NM_201379,NM_201380,NM_201381,NM_201382,NM_201383,NM_201384,AC109322,CH471162,U63610,Z54367,AF330792,AY480044,AY480045,AY480046,AY480047,AY480048,AY480049,AY480050,AY480051,BC007597,BC013206,U53204,X97053,Z36817,NM_000445 NP_958780,NP_958781,NP_958782,NP_958783,NP_958784,NP_958785,NP_958786,EAW82170,EAW82171,EAW82172,EAW82173,EAW82174,AAB05428,CAA91196,AAL37483,AAR95677,AAR95678,AAR95679,AAR95680,AAR95681,AAR95682,AAR95683,AAR95684,AAH07597,AAB05427,CAA65765,Q15149,Q6S377,Q6S378,Q6S379,Q6S380,Q6S381,Q6S382,Q6S383,Q8WXV5,Q96IE3,NP_000436 Hs.434248 GDB:4119073 EBS1|EBSO|HD1|PCN|PLEC1b|PLTN plectin protein-coding 1317946 PLEK pleckstrin 1580863 2897630,15815621,15761153,15698571,15573383,15489334,14702039,12477932,12456365,12054651,10860665,9060471,8999861,8694752,8615792,8208296,7559487,2768345 5341 NM_002664,AC015969,CH471053,AB208967,AK124424,AK130678,BC018549,BM477542,CR542056,CR542079,CR603231,CR605130,X07743 ABM85822,ABM84512,NP_002655,AAX93121,EAW99874,EAW99875,EAW99876,BAD92204,AAH18549,CAG46853,CAG46876,CAA30564,P08567,Q59GZ2,Q6FGQ1 Hs.468840 GDB:9836816 FLJ27168|P47 protein-coding 1314027 PLEK2 pleckstrin 2 1580863 17008542,10419454,17658464,15865208,15489334,12477932,11911883,10548495,8889549 26499 NM_016445,AL139785,CH471061,AF228603,BC001226,BC008056,CR621991 NP_057529,EAW80935,AAF34791,AAH01226,AAH08056,Q9NYT0,ABM82164,ABM85349 Hs.170473 GDB:11510582 protein-coding 1345011 PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 1302742 18079691,17884985,17000705,16174643,16080115,15489334,15485858,15164054,14702039,14516276,12477932,12101241,11802782,11513726,11001876,18164066 1302742 59338 NM_001001974,NM_021622,BX664700,BX842242,CH471066,AB209407,AF286160,AK075159,AK095775,AL133603,BC001136,BC041654,BC042458,BE785067,BX647627,CR595156,AK057463 NP_001001974,NP_067635,CAI23596,CAI23597,CAI23598,EAW49315,EAW49316,EAW49317,EAW49318,EAW49319,BAD92644,AAG15197,AAH01136,AAH42458,Q59FQ3,Q5RGS4,Q5RGS6,Q9HB21,ABM83192,ABM86393 Hs.708027 GDB:11508559 TAPP1 protein-coding 1352018 PLEKHA2 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 1302742,1580863 11001876,16421571,14702039,11802782 1302742 59339 NM_021623,AC108863,AA985353,AF286164,AK057205,AC067817,AK098787,AK291842,BQ025762,CR605978,DC332022 NP_067636,AAG15201,BAF84531,Q9HB19,AAI66639 Hs.369123 GDB:11508560 FLJ25921|TAPP2 protein-coding 1313158 PLEKHA3 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 1302742,1580863 11001876,16341674,15489334,15252450,15107860,14702039,12477932 1302742 65977 NM_019091,AC009948,CH471058,AF286162,AK000074,AK074209,BC035471,BC039812,BC044567,BM794932,CR597426,DQ786318 NP_061964,AAX88884,EAX11023,EAX11024,EAX11025,EAX11026,AAG15199,BAA90927,AAH44567,Q4ZG69,Q9HB20 Hs.41086 GDB:11508561 FAPP1|FLJ20067 protein-coding 1346892 PLEKHA3P1 pleckstrin homology domain containing, family A member 3 pseudogene 1 91405 NG_000949,AC005795 PLEKHA3P pseudo 1346745 PLEKHA4 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 1302742 11001876,16169070,15489334,12477932 1302742 57664 AB208908,AY007233,NM_020904,AC026803,CH471177,BC015956,BC024157,BC025259,BC033832,BC064601,CR621483 EAW52406,EAW52407,EAW52408,BAD92145,NP_065955,AAG01896,AAH24157,AAH33832,AAH64601,Q59H51,Q9H4M7,ABM84360,ABW03560 Hs.9469 GDB:11508562 PEPP1 protein-coding 1344659 PLEKHA5 pleckstrin homology domain containing, family A member 5 1302742 11001876,16713569,17081983,16964243,15951569,15489334,15324660,15231747,14702039,12477932,12168954,11214970 1302742 54477 AC024902,AC087314,AC091805,AC092828,CH471094,AB051473,AF302150,AK001529,AK023127,AK026344,AK056054,AL834259,BC000969,BC004164,BC013133,BC044245,BC070174,NM_019012,BC127091,BC127092 NP_061885,EAW96392,EAW96393,EAW96394,EAW96395,EAW96396,EAW96397,BAB21777,AAG22817,BAA91742,BAB14419,CAD38934,AAH00969,AAH13133,AAH44245,AAH70174,AAI27092,AAI27093,Q6NSF8,Q86ST7,Q9HAU0 Hs.188614 FLJ10667|FLJ31492|KIAA1686|PEPP2 protein-coding 1353676 PLEKHA6 pleckstrin homology domain containing, family A member 6 1302742 17456239,16964243,15951569,14702039,12477932,11001876,10737800,10231032 1302742 22874 BC152475,BG011951,BM855051,CR590769,DQ925685,DQ925686,DQ925687,DQ925689,DQ925690,DQ925691,NM_014935,AL592114,AL606489,CH471067,AB023186,AK092454,AK096673,AL571585,BC010522,BC073995,BC090947 AAI52476,ABL59912,ABL59913,ABL59914,ABL59916,ABL59917,ABL59918,Q96FR0,Q9Y2H5,NP_055750,CAH71228,EAW91509,EAW91510,BAA76813,AAH10522 Hs.253146 KIAA0969|MGC176733|PEPP3 protein-coding 1350975 PLEKHA7 pleckstrin homology domain containing, family A member 7 737633 12477932 737633 144100 AC131064,NM_175058,AC026639,AC116533,AC127033,CH471064,BC033239,BC041452,BC071599 NP_778228,EAW68452,AAH33239,AAH41452,AAH71599,Q6IQ23,Q8IUS9 Hs.12332 DKFZp686M22243 protein-coding 1348276 PLEKHA8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 1302742,737633 17687330,16103222,15107860,14702039,12747765,12477932,11001876,16189514 1302742,737633 84725 NM_032639,AC007285,CH471073,AF308300,AF380162,AK023180,BC002838,BC028914,BC053990,CR598838 NP_116028,EAW93930,EAW93931,EAW93932,EAW93933,AAG48267,AAK55424,BAB14449,AAH02838,AAH53990,Q96JA3,ABM84424,ABM87457 Hs.662679 FAPP2|MGC3358 protein-coding 1351574 PLEKHA9 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9 737633 12477932 737633 51054 NM_015899,AC009248,CH471111,AF103731,BC063575 NP_056983,EAW57878,EAW57879,EAW57880,AAC97956,AAH63575,O95397 Hs.558495 FLJ14156 protein-coding 1343334 PLEKHB1 pleckstrin homology domain containing, family B (evectins) member 1 1580863 10923244,16189514,10585447,15761153,15489334,14702039,12477932 58473 NM_021200,AF179306,AP000860,AP002993,CH471076,AB209716,AF081583,AF093249,AF100612,AF101054,AK054725,AK289620,AK289909,AK290109,BC008075,U89715 NP_067023,AAG13807,EAW74900,EAW74901,EAW74902,EAW74903,EAW74904,EAW74905,EAW74906,BAD92953,AAF21786,AAF16684,AAF18932,AAF18572,BAF82309,BAF82598,BAF82798,AAH08075,AAF16675,Q59EU5,Q9UF11 Hs.445489 GDB:11510184 KPL1|PHR1|PHRET1 protein-coding 1322147 PLEKHB2 pleckstrin homology domain containing, family B (evectins) member 2 632809,1580863 15231747,17353931,15489334,15231748,14702039,12477932,10200314,9373149,8125298,11001876 632809 55041 NM_017958,NM_001100623,AC009477,AC073869,AC131180,CH471250,AI458777,AK000790,AK054998,AK074259,AK093730,AK123710,AK126289,AK223338,BC001428,BC013991,BC050695,CR603184,DR761393 NP_001094093,NP_060428,AAX93135,EAW51260,EAW51261,EAW51262,EAW51263,EAW51264,EAW51265,EAW51266,BAA91379,BAD97058,AAH01428,AAH13991,AAH50695,Q53FF1,Q53TH7,Q96CS7,ABM82879,ABM86065 Hs.469944 GDB:11511067 EVT2|FLJ20783|FLJ23679|FLJ30436 protein-coding 1347482 PLEKHD1 pleckstrin homology domain containing, family D (with M protein repeats) member 1 122453 XM_063135 1321508 PLEKHF1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 1580863 16189514,16188880,15489334,14702039,12477932 79156 NM_024310,AC010512,AC010644,AF434818,AK027758,AY037145,CR606040,CR615714,CR626339,CR626406,BC002744,BC018876,CR591930,CR602222 NP_077286,AAL30773,BAB55349,Q96S99,AAK67626,AAH02744 Hs.466383 APPD|MGC4090|PHAFIN1|ZFYVE15 protein-coding 1323798 PLEKHF2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 1580863 11256614,17081983,16381901,16189514,15489336,15489334,14702039,12477932,11230166,11076863 79666 NM_024613,AC018801,CH471060,AF434819,AK023249,AL834473,BC011806,CR615432 NP_078889,EAW91743,AAL30774,BAB14486,CAD39132,AAH11806,Q0JSL3,Q9H8W4,CAL37459,CAL38501,ABM84335,ABM87727 Hs.29724 FLJ13187|PHAFIN2|ZFYVE18 protein-coding 1321123 PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1580863 17081983,14702039,14574404,12477932,10574462 57480 NM_001029884,AL035086,AL450339,AL450344,CH471051,AB033035,AJ420468,AK056300,BC089428,CR606130 NP_001025055,CAI42790,CAI12938,CAI12939,EAW47765,EAW47766,EAW47767,BAA86523,AAH89428,Q5EBL9,Q5JYA6,Q5JYA9,Q5T1F3,Q9ULL1 Hs.189781 FLJ31738|KIAA1209 protein-coding 1349345 PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 737633,1580863 18045877,14702039,12477932,11839748 737633 64857 AK024429,AK026111,AK095957,AL832850,BC013426,BC015174,BC075858,NM_022835,AC011500,CH471126 BAB15719,BAB15364,AAH13426,AAH15174,AAH75858,Q9H7P9,NP_073746,EAW56887,EAW56888,EAW56889,EAW56890,EAW56891 Hs.631574 CLG|DKFZp667J2325|FLJ00018|FLJ22458|FLJ38638 protein-coding 1346378 PLEKHG3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3 12477932,9628581 26030 NM_015549,AL121774,CH471061,AB011171,AK074169,BC004298,BC011891,BC063554,BC073907,BC086862,BC129952,BC129953,BX248779 NP_056364,EAW80869,EAW80870,EAW80871,EAW80872,EAW80873,EAW80874,BAA25525,BAB84995,AAH04298,AAH11891,AAH63554,AAH73907,AAI29953,AAI29954,CAD66586,A1L390,Q96FU0 Hs.509637 KIAA0599|MGC156299|MGC156300 protein-coding 1604025 PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 17611710,17357132,16780885,16713569,16491300,16001362,15489334,15455264,15148151,14702039,12796826,12477932,8755926 25894 NM_015432,AC040160,CH471092,AB197663,AB197664,AK024475,AL117435,BC001520,BC054486,BC063501,BC082974,BC115389,BC115390 NP_056247,EAW83117,EAW83118,EAW83119,EAW83120,EAW83121,BAE07054,BAE07055,BAB15765,CAB55923,AAH54486,AAH63501,AAH82974,Q08EH6,Q1RLM1,Q58EX7 Hs.188781 DKFZP434I216|SCA4|puratrophin1 protein-coding 1606952 PLEKHG4B pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 12477932,11572484 153478 NM_052909,AC010443,AC021087,AB067496,AI561188,AK075513,AK125163,BC008352 NP_443141,BAB67802,BAC11663,BAC86068,AAH08352,Q6ZUZ8,Q8N2E9,Q96HN1,Q96PX9,AAI56563 Hs.535800 FLJ43173|KIAA1909 protein-coding 1603206 PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 12761501,17564964,16344560,14702039,12477932,9872452,8889548 57449 NM_001042663,NM_020631,NM_001042664,NM_001042665,AL158217,AL591866,CH471130,AB018263,AB097001,AK024676,AK091201,AK096347,AK125550,AK128021,AK131074,BC015231,BC036671,BC042606,BF033726,NM_198681,BG698980,BQ185626,CR619991,DA100291,DA126163,DB225012 NP_941374,NP_001036128,NP_065682,NP_001036129,NP_001036130,CAI22159,CAI22160,CAI22161,CAI22162,CAI22164,CAI22165,CAI16068,CAI16069,EAW71539,BAA34440,BAC77354,BAC85124,AAH15231,AAH42606,O94827,Q5SY18 Hs.284232,Hs.619982 DSMA4|GEF720|KIAA0720|RP4-650H14.3 protein-coding 1605382 PLEKHG6 pleckstrin homology domain containing, family G (with RhoGef domain) member 6 17881735,16721066,14702039,12477932 55200 NM_018173,NG_007506,AC006057,CH471116,AF289613,AK001527,AK023741,AK095373,BC040273,BC104751,BC105961,BC109095 NP_060643,EAW88807,EAW88808,EAW88809,EAW88810,AAL55797,BAA91741,BAB14663,BAC04539,AAI04752,AAI05962,AAI09096,Q3KR16 Hs.631660 FLJ10665|MGC126315|MGC126353|MGC126354|MyoGEF protein-coding 1604901 PLEKHG7 pleckstrin homology domain containing, family G (with RhoGef domain) member 7 440107 NM_001004330,AC016136,AK128530,BC137086 NP_001004330,BAC87483,AAI37087,Q6ZR37 Hs.591013 FLJ46688 protein-coding 1318086 PLEKHH1 pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 1580863 16344560,14702039,12477932,10574462 57475 NM_020715,AL132640,CH471061,AB033026,AI792090,AK123262,AK123305,AK124787,BC014159,BC146787,BX648137,BX648464,DA056171 NP_065766,EAW80940,BAA86514,BAC85577,AAH14159,AAI46788,Q9ULM0 Hs.594236 protein-coding 1351016 PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 11256614,16381901,15489336,12477932,11230166,11076863 130271 NM_172069,AC011242,AB095948,AK124381,AK126308,AL832207,AL833400,AL833473,AL833546,BC031914,BC063310 NP_742066,BAC23124,CAI46132,CAD38637,AAH63310,Q0JVP3,Q8IVE3,CAL37417 Hs.164162 KIAA2028|PLEKHH1L protein-coding 1602457 PLEKHH3 pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 14702039,12477932 79990 NM_024927,AC067852,CH471152,AB208939,AK024672,AK096767,AL137584,BC016062,BC052978,CR597371,CR625380 NP_079203,EAW60862,EAW60863,EAW60864,EAW60865,BAD92176,BAB14956,CAB70826,AAH16062,AAH52978,Q7Z736 Hs.632251 FLJ21019 protein-coding 1316273 PLEKHJ1 pleckstrin homology domain containing, family J member 1 17353931,15761153,14702039,12477932,11602354 55111 NM_018049,AC005263,CH471139,CS300641,AK001159,AK097723,AK098725,BC003084,BC008966,CR457253,CR602576,CR605294,CR624555,AK092742 NP_060519,EAW69405,EAW69406,EAW69407,CAK32305,BAA91525,AAH03084,AAH08966,CAG33534,Q9NW61 Hs.501353 FLJ10297|GNRPX protein-coding 1354234 PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1 17404618,12820725,12477932,9205841 9842 NM_014798,AC091132,CH471178,AB002354,AJ002220,AK074103,AL389948,BC053848,BC064361,X85792 NP_055613,EAW51526,BAA20813,CAB91652,BAB84929,CAB97526,AAH64361,CAA59791,Q86TP3,Q9Y4G2 Hs.514242 AP162|B2|KIAA0356|OPTB6 protein-coding 1315942 PLEKHM2 pleckstrin homology domain containing, family M (with RUN domain) member 2 737633 15905402,12477932,10048485 737633 23207 AL137297,BC008002,BC016488,BC030545,NM_015164,AL121992,AL450998,AL606758,AB020649,BC040441,BC042103,BC068599,CR597360,CR601577,CR603665 CAB70684,AAH08002,AAH16488,AAH30545,NP_055979,CAI22373,CAI22374,CAH70859,CAH70860,CAH72017,CAH72018,BAA74865,AAH40441,AAH42103,AAH68599,Q5VT64,Q8IWE5 Hs.646775 KIAA0842|RP11-169K16.1|SKIP protein-coding 2292191 PLEKHM3 pleckstrin homology domain containing, family M, member 3 14702039,12477932 389072 NM_001080475,AC083900,AC093698,AC096772,AK057612,AK123204,AK130218,BC020812,BX648983 NP_001073944,BAC85557,AAH20812,Q6ZWE6,AAI56836 Hs.654645,Hs.679895 FLJ41210|PLEKHM1L protein-coding 1604774 PLEKHN1 pleckstrin homology domain containing, family N member 1 16381901,15489336,12477932,11230166,11076863 84069 NM_032129,AL645608,CH471183,AL136730,BC101386,BC101387 NP_115505,CAI15570,EAW56299,CAB66664,AAI01387,AAI01388,Q494U1,CAL38723,AAI41659 Hs.528691 DKFZP434H2010|MGC120613|MGC120616|RP11-54O7.7 protein-coding 1606003 PLEKHO1 pleckstrin homology domain containing, family O member 1 17942896,17197158,16987810,16713569,16381901,16325375,15831458,15761153,15706351,15489336,15254037,14702039,12477932,11076863,10799509,9373149,8125298 51177 NM_016274,AL358073,CH471121,AF073836,AF168676,AF192912,AF217956,AF291105,AK025937,AK125609,AK222921,BC010149,BC023533,CR596096,CR609398,CR611392,CR618253,CR620142,CR621316,CR621946,CR625508 NP_057358,CAI14262,CAI14263,CAI14264,EAW53580,EAW53583,EAW53581,AAF13461,EAW53582,AAF89644,AAQ13826,AAK71509,AAK28027,BAD96641,AAH10149,AAH23533,Q53GL0,Q5T4P9,CAL37406,CAL37478,CAL38256,ABM84307,ABM87779 Hs.438824 CKIP-1|OC120|RP11-458I7.3 protein-coding 1601963 PLEKHO2 pleckstrin homology domain containing, family O member 2 14702039,12477932 80301 NM_025201,AC069368,CH471082,AF217986,AF318373,AF494534,AK096203,AL157457,BC008744,CR591221 NP_079477,EAW77697,EAW77698,EAW77699,EAW77700,AAG17229,AAL55880,AAM18053,AAH08744,Q8TD55,Q9HBR5 Hs.207157 DKFZp761K2312|FLJ38884|PLEKHQ1|PP1628|pp9099 protein-coding 1343043 PLG plasminogen Plasminogen (PLG) is a circulating zymogen that is converted to the active enzyme plasmin by cleavage of the peptide bond between arg560 and val561, which is mediated by urokinase (PLAU; MIM 191840) and tissue plasminogen activator (TPA, PLAT; MIM 173370). The main function of plasmin is to dissolve fibrin (see, e.g., FGA, MIM 134820) clots. Plasmin, like trypsin, belongs to the family of serine proteinases (Miyata et al., 1982 [PubMed 6216475]; Forsgren et al., 1987 [PubMed 3030813]).[supplied by OMIM] 1601405,1580863,1601404 16480936,2318848,9242524,1986355,11257124,8910613,14726399,2962641,6216475,18310038,18279394,18163891,18070889,18039838,17978577,11342539,11263499,11169399,11113116,11100730,11027681,10978167,10974350,10964919,10956663,10928473,10889192,10700393,10656799,10625689,10604721,10512713,10233898,10218588,10215610,10077593,10069369,9783753,9737862,9688635,9596664,9548733,9521645,9490681,9428707,9375744,9360944,9337997,9305949,9234243,9201958,9102221,9054441,9020112,8843739,8652577,8612605,8611560,8555184,8478593,8460120,8392398,8360181,8181476,8181475,8162705,8054447,7982919,7814888,7586586,7548163,7538844,7525077,6919539,6838832,6582496,6238949,6148961,6094526,5475635,4694729,4240117,4226004,3920216,3356193,3334852,3030813,2962191,2829380,2745554,2522013,2437112,2157850,2065054,1939207,1909331,1657149,1657148,1427790,659588,479158,158022,146197,142009,134998,126863,122932,11438139,9858247,9834305,17927806,17890952,17656680,17653767,17616171,17606760,17545513,17379720,17272502,17206383,17200769,17115186,16828203,16790522,16601838,16478887,16319056,16229836,16097950,16087677,16043488,15911629,15746964,15677446,15642732,15613921,15609351,15529749,15501816,15489334,15333838,15321992,15299951,15220341,15215240,15211511,15099286,15090462,14769799,14764098,14739293,14739127,14719094,14678821,14574404,12876630,12871329,12736244,12700073,12697748,12692411,12646571,12604689,12477932,12456874,12406896,12228252,12192005,12189145,12093796,12080056,12054798,12036889,12016220,11939791,11928826,11888684,11729324,11371191,11350170 1601405,1601404 5340 NM_000301,AL109933,AY192161,CH471051,K02921,M34276,AK312966,BC060513,BU073846,CR749293,K02922,M74220,X05199 NP_000292,CAI22907,CAI22908,CAO03489,AAN85555,EAW47591,AAA60123,AAA60113,BAG35805,AAH60513,CAH18148,AAA60124,AAA36451,CAA28831,P00747,Q5TEH5,Q68DS2,Q9UBQ9,Q9UMI2 Hs.143436 GDB:119498 DKFZp779M0222 protein-coding 1343124 PLGLA plasminogen-like A 10092845,9074645,1986355,1554698 285189 XR_042135,NR_003506,AC114755,M86871,M86872,M86873,U67178 AAA60168,AAB94300,Q15195,Q9UE70 Hs.631263 GDB:132370 PLGLA1|PLGP2|PRGA plasminogen pseudogene 2 pseudo 1606837 PLGLB1 plasminogen-like B1 15815621,15489334,12477932,2714803,1986355,1554698,1379800 5343 BC109248,NM_001032392,AC111200,AC125232,M86874,M86875,M86876,BC070296,BC107767 AAI09249,Q02325,NP_001027564,AAY24020,AAY24028,AAA60169 Hs.652169,Hs.652174 GDB:120300 PLGL|PLGP1|PRP-B protein-coding 1606838 PLGLB2 plasminogen-like B2 15815621,15489334,14702039,12477932,10092845,10069369,9074645,8012354,2714803,1986355,1554698,1379800 5342 NM_002665,AC093616,AF075095,AI023399,AK124365,BC005379,BC022294,M93143 NP_002656,AAX82025,AAH05379,AAH22294,AAB06491,Q02325,Q53QL7 Hs.652169 GDB:132369 PLGP1 protein-coding 733482 PLIN perilipin The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. 1303992,1581041,1581042,737723,1580863 9521880,18356850,18326614,18243128,18201980,18174481,17927964,17353663,16836753,16786163,16732015,16732014,16585946,16567422,16243839,15985482,15961705,15770500,15601970,15601966,15489334,15355432,15111493,15078502,15001633,14527948,12917496,12802495,12477932,12453889,11751901 1303992,1581041,1581042,737723 5346 NM_002666,AC013787,CH471101,AB005293,BC031084,CB266260 NP_002657,EAX02061,BAA25420,AAH31084,O60240 Hs.103253 GDB:6328388 PERI 2289631,2289635,2289636 BW503_H,BW505_H,BW504_H protein-coding 1353801 PLK1 polo-like kinase 1 (Drosophila) 1580863 12493754,15070733,15654075,16439210,8127874,9177283,10793135,11256614,15678101,11897663,12738781,12939256,15148369,15199097,15469984,18378770,18331714,18250300,18174154,18062778,18056432,17943598,11854496,11447294,11283617,11242082,11205743,11202906,11194558,11127806,10973490,10191277,9499405,9154840,9083047,8524282,8018557,7962193,7902533,7790358,7478607,16189514,14647413,15766665,14532005,12852857,12852856,12815053,12732729,12708489,12595692,12592388,12477932,14592974,12447691,12442251,12429910,12364337,12242661,12207013,12167714,12147700,12082631,12077309,12034729,12024051,11931760,11901158,17671160,17635521,17623655,17617734,17610829,17488623,17461553,17446864,17434144,17376779,17360533,17359284,17351902,17351640,17310276,17265445,17218258,17121863,17121839,17102638,17081991,17005603,16966375,16934469,16930555,16927022,16873548,16865274,16860740,16837776,16760428,16753148,16648550,16630118,16582488,16478733,16378098,16267267,16260496,16254247,16247472,16237758,16198290,16169070,16157594,16127294,15923617,15876876,15855824,15713655,15664519,15661849,15661742,15616186,15611664,15489334,15458642,15350223,15280449,15210710,15190079,15176053,15141022,15125835,15105433,15024021,15015605,14735186,14734534,14654792 5347 NM_005030,AC008870,CH471145,U78073,X90725,AB084459,AB209179,BC002369,BC003002,BC014135,BC014846,CR593459,CR605293,L19559,U01038,X73458,X75932 NP_005021,EAW55803,EAW55804,EAW55805,EAW55806,AAB36946,CAA62260,BAD93352,BAD92416,AAH02369,AAH03002,AAH14846,AAA36659,AAA56634,CAA51837,CAA53536,P53350,Q58A51,Q59GD0,ABM81971,ABM85150 Hs.592049 PLK|STPK13 protein-coding 1348089 PLK2 polo-like kinase 2 (Drosophila) Serum-inducible kinase is a member of the 'polo' family of serine/threonine protein kinases that have a role in normal cell division.[supplied by OMIM] 1580863 12761501,17912033,17706602,17671831,16344560,16203730,15489334,14702039,12972611,12897130,12651910,12477932,11716500,11696980,11039900,10557092,10523297 10769 NM_006622,AC008814,CH471123,AA469989,AF059617,AF223574,AI655395,AK027851,AK098163,BC013879,BF437296,CR595239,DA020501,U85755 NP_006613,EAW54972,EAW54973,AAC14573,AAF62897,BAC05247,AAH13879,AAD00575,Q8N7M6,Q9NYY3,ABM84579,ABM86756 Hs.398157,Hs.658132 SNK protein-coding 1350781 PLK3 polo-like kinase 3 (Drosophila) Cytokine-inducible kinase is a putative serine/threonine kinase. CNK contains both a catalytic domain and a putative regulatory domain. It may play a role in regulation of cell cycle progression and tumorigenesis. 1580863 8702627,17804415,17264206,16481012,16478733,16189514,15671037,15489334,15190214,15021912,14968113,12548019,12493754,12477932,12242661,11971976,11931760,11901158,11709713,11551930,11333986,11039900,10973490,10679924,10673501,10557092,10523297,9353331,9278512 1263 NM_004073,AL592166,AY764184,CH471059,AA421212,AB209875,AJ293866,BC004135,BC004198,BC013899,BC013960,CR607047,U56998 NP_004064,CAI13006,AAU88146,EAX07021,BAD93112,CAC10659,AAH13899,AAC50637,Q59ED6,Q5JR99,Q9H4B4 Hs.632415 CNK|FNK|PRK protein-coding 1313392 PLK4 polo-like kinase 4 (Drosophila) This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. 1580863 16189514,10607900,17681131,16326102,16244668,15967108,15761153,15489334,15342556,12477932,11597015,11489907,8274451 10733 NM_014264,AC107053,CH471056,AB006972,BC036023,BP328161,BU633758,Y13115,Z25433 NP_055079,EAX05196,BAB69958,AAH36023,CAA73575,CAA80920,O00444,Q15455,Q9UD84,Q9UDE2,ABM85115 Hs.172052 SAK|STK18 protein-coding 736785 PLLP plasma membrane proteolipid (plasmolipin) 1358792,1580863 15489334,12477932,11707781,7929173 1358792 51090 NM_015993,AC009090,AC108081,CH471092,AF137386,AK130584,AK289599,BC002760,CR595540,CR611850 NP_057077,EAW82915,EAW82916,EAW82917,AAD33060,BAF82288,AAH02760,Q9Y342 Hs.632215 GDB:11508491 PMLP|TM4SF11 protein-coding 1349244 PLN phospholamban The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure. 1580215,1580863 15598648,8406504,18241046,17905829,17766390,17655857,17515962,17010801,17009399,16829191,16476846,16432188,16382369,16235537,16043693,15736939,15640069,15489334,14530977,12804600,12705874,12692302,12639993,12610310,12525698,12480535,12477932,12080135,12032137,11854448,11526231,10809745,10551848,10198197,10096878,9845327,9512019,9468536,9345259,8862513,7779806,7749920,7586307,3759968,1828805,16189514 1580215 5350 NM_002667,AF177764,CH471051,Z99496,BC005269,M60411,M63603 NP_002658,AAD55950,EAW48198,CAI21610,AAH05269,AAA60109,AAA60083,P26678,Q5R352,ABM83960,ABM87145 Hs.170839 GDB:128300 CMD1P|PLB protein-coding 1353726 PLOD1 procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. 1599090 1577494,8449506,15174142,17390085,16758144,16710414,16673047,16344560,15979919,15854030,15489334,14565595,12477932,12452796,11956192,10748089,10686424,9738467,9617436,8621606,8163671,7713497,6229534,5027136,1345174,1335016,1184396,1148262,798297,194639 1599090 5351 AF081786,AF490527,AL096840,CH471130,AU139472,BC016657,CR610822,CR611067,M98252,NM_000302 NP_000293,AAD52693,AAM12752,CAC19722,CAI19083,CAI19084,CAI19085,EAW71724,EAW71725,AAH16657,Q02809,Q5JXB7,Q5JXB8,Q5JXB9,Q9UL44 Hs.75093 LH|LH1|LLH|PLOD protein-coding 1606836 PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. 9054364,17353931,15174142,16934803,15955452,15694128,15589118,15523625,15523624,15489334,12881513,12477932,11956192,11334715,10748089,10701773,10372558,9271685,8889548 5352 NM_000935,NM_182943,AC092982,AC107021,AF085277,AB209879,AK125700,AK130098,AL832238,BC016834,BC037169,BM724669,BX537521,U84573,AY026757,CH471052 NP_000926,NP_891988,EAW78940,EAW78941,BAD93116,AAH16834,AAH37169,AAB58363,O00469,Q59ED2,Q96AR9,Q96QU5,Q9Y6D3,AAD40977,AAK20119,EAW78939 Hs.477866 GDB:5302684 LH2|TLH protein-coding 1346467 PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. 1580863 9724729,16189514,16447251,16303743,15489334,12853948,12477932,12475640,11956192,11334715,10934207,10686427,9582318 8985 NM_001084,AC004876,AF207069,CH471197,AF046889,AF068229,AK075338,AL049952,AY220458,BC011674,BC018946,BF941815,CR592883,CR595894,CR612529 NP_001075,AAD45831,AAF63701,EAW50205,AAC39753,AAC34808,CAB43221,AAO61775,AAH11674,O60568,Q9UG85 Hs.153357 GDB:9865034 LH3 protein-coding 732304 PLP1 proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. The encoded protein functions in myelination. This protein may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations associated with this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Two transcript variants encoding distinct isoforms have been identified for this gene. 1358559,1358783 17962415,17438221,17420921,17171701,16774974,16416265,16380909,16374829,16287154,16130097,15837131,15772651,15753308,15712223,15694262,15627202,15489334,15450775,15009677,14702039,14572140,12805210,12601703,12491939,12477932,12325077,12297985,12237860,12196561,12107410,11872612,11093273,10767322,10520936,10417279,10319897,2479017,18190592,10203813,9934976,9894878,9858696,9788732,9747038,9728768,9633722,9489796,9247276,9143933,9008538,8956049,8909455,8780101,8765335,8696336,8012387,7684945,7684886,7683951,7679906,7573159,7541731,7539213,7531827,7522741,6201756,6083474,4041237,3840606,3768366,3467339,3457761,2773936,2480601,2467009,2449536,2441695,1715570,1711121,1708672,1707231,1384324,1376966 1358559,1358783 5354 NM_000533,NM_199478,AJ006976,CH471190,D13320,M15032,S55837,S62086,Z73964,AI205189,AK128782,AK292728,AV731932,BC002665,BC095452,BQ717999,BQ723748,BT019601,BT019602,BX445448,CA389667,CR536542,CR605012,M17085,M27110,M54927 NP_000524,NP_955772,CAA07364,EAW54690,EAW54691,EAW54692,EAW54693,EAW54694,BAA02577,AAA60350,AAD13880,AAB26927,BAF85417,AAH02665,AAH95452,AAV38408,AAV38409,CAG38779,AAA60118,AAA60117,AAA59565,P60201,Q5U0F2,Q5U0F3,Q6FHZ6,Q9P2Z7 Hs.1787 GDB:120302 MMPL|PLP|PLP/DM20|PMD|SPG2 proteolipid protein protein-coding 1349250 PLP2 proteolipid protein 2 (colonic epithelium-enriched) 1580863 15474493,9124532,17429077,17416750,15862967,15489334,12529377,12477932,9344658,8470895,7622043 5355 NM_002668,AF196779,CH471224,U93305,BC109066,CR597618,CR598083,CR607707,CR616824,CR619342,L09604 NP_002659,EAW50689,EAW50690,AAB92356,AAI09067,AAA35499,Q04941 Hs.77422 GDB:683190 A4|A4-LSB|MGC126187 protein-coding 733629 PLRG1 pleiotropic regulator 1 (PRL1 homolog, Arabidopsis) 1580863 17353931,9765207,15635413,15489334,14702039,14576297,12477932,12176931,11544257,11101529 5356 NM_002669,AC107385,CH471056,AF044333,AK002108,BC020786,BC036046,BC106004,CR598423,CR600370,CR601633,CR605729,CR606429,CR614678,CR615444,CR618318,CR619619,CR620440 NP_002660,EAX04940,EAX04941,AAD09407,AAH20786,AAI06005,O43660 Hs.249996 GDB:9835147 MGC110980|PRL1 pleiotropic regulator 1 protein-coding 1316159 PLS1 plastin 1 (I isoform) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. Fimbrin is a 68-kD actin-bundling protein. 1580863 8139549,12477932,8428952,8336074,7655078,3211125,2111166,12119179 5357 NM_002670,AC072028,CH471052,AK290316,BC031083,L20826 NP_002661,EAW78965,EAW78966,EAW78967,BAF83005,AAH31083,AAA19869,Q14651,Q8NEG6,ABW03907 Hs.203637 GDB:362710 I-PLASTIN protein-coding 731591 PLS3 plastin 3 (T isoform) Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. 1580863 16115810,17353931,18440926,16142308,15741236,15489334,14612505,14567899,12477932,9373149,9302997,8428952,8139549,8125298,7806577,4053036,3211125,2378651,12119179 5358 NM_005032,AC003983,AC005000,AL589842,CH471120,L05491,AK222801,BC008588,BC039049,BC056898,BC150494,M22299,M34427 Q5JRN9,Q96HI1,ABM82096,ABM85279,NP_005023,EAX02614,AAA61214,BAD96521,AAH08588,AAH39049,AAH56898,AAI50495,AAB02844,AAA36759,P13797,Q53GY0 Hs.496622 GDB:6774663 T-plastin plastin 3 (t-isoform) protein-coding 1350472 PLSCR1 phospholipid scramblase 1 1580863 9218461,16189514,17712045,16713569,16260419,16091359,15611084,15489334,15308695,15308560,15035622,14766753,14654079,12871937,12605885,12586838,12564925,12477932,12031648,12023963,12010804,12009895,11809687,11390389,10930526,10869562,10770950,10753839,9712717,9572851,9485382,8663431 5359 BC021100,BC032718,BC070251,CR593697,CR607459,CR623341,DR005513,NM_021105,AC069528,AC116544,AF153715,AF224492,CH471052,AB006746,AF098642,BC017901 AAH21100,AAH32718,AAH70251,O15162,Q8WVK1,ABM81805,ABM84959,NP_066928,AAF80593,EAW78923,EAW78924,EAW78925,EAW78926,EAW78927,EAW78928,EAW78929,EAW78930,BAA32568,AAC99413,AAH17901 Hs.130759 GDB:9848780 MMTRA1B protein-coding 1353834 PLSCR2 phospholipid scramblase 2 1580863 10930526,15489334,12509439,12477932 57047 BC069785,BC120969,BC141969,NM_020359,AC069528,CH471052,AF159441,BC055415 AAH69785,AAI20970,AAI41970,Q6NSW9,Q7Z4L7,Q9NRY7,NP_065092,EAW78931,EAW78932,AAF91082,AAH55415 Hs.147305 GDB:11507428 protein-coding 1315960 PLSCR3 phospholipid scramblase 3 1580863 10930526,17226776,16939411,16189514,15489334,14702039,14573790,12649167,12477932 57048 NM_020360,AC113189,CQ783273,AF159442,AF289602,AK075188,AK098229,AK124006,AK290117,BC011735,BC028080,BC093026,CR597400,CR600673,CR600989,CR604817,CR618924,CR621218,CR622721 NP_065093,CAF86478,AAF91083,AAL55786,BAC11458,BAF82806,AAH11735,AAH93026,Q9NRY6,ABM84339,ABM87732 Hs.655161 GDB:11507430 protein-coding 1323284 PLSCR4 phospholipid scramblase 4 1580863 10930526,16189514,15489334,12477932 57088 NM_020353,AC092982,CH471052,AF087887,AF199023,AK128442,AK290214,AK292815,AL833760,AY550971,BC028354 NP_065086,EAW78935,EAW78936,EAW78937,EAW78938,AAP97186,AAF89960,BAC87442,BAF82903,BAF85504,CAH56232,AAT52217,AAH28354,Q6ZR73,Q9NRQ2,ABM92224,ABW03341 Hs.477869 GDB:11507432 protein-coding 1349492 PLSCR5 phospholipid scramblase family, member 5 389158 XM_371670,XM_940910,NM_001085420,AC116544,AY436642,CR591144 XP_371670,XP_946003,NP_001078889,AAR99737 Hs.254692 protein-coding 1315460 PLTP phospholipid transfer protein The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. 1581040,1581038,1581039,1600654,1580863 7654777,17921435,17917406,17900150,17761633,17553507,17495597,17303779,17272752,17260960,16862459,16770077,16644710,16520487,16389649,16388083,16335952,16006562,15953936,15924430,15845396,15795933,15544352,15489334,15448094,15166780,14993244,14702039,14695459,14559902,12966036,12893687,12837922,12810820,12754275,12730304,12693940,12649089,12612088,12531890,12477932,12086920,11861670,11854286,11780052,11716766,10333293,10191289,9624168,9469594,9373149,9110174,8647810,8619474,8554588,8132678,8125298,7490104,16189514,12835223 1581040,1581038,1581039,1600654 5360 BC019847,BC019898,CR590475,CR590500,CR591380,CR592030,CR593086,CR593296,CR593911,CR595084,CR595598,CR596763,CR597431,CR597556,CR598231,CR599059,CR599330,CR599835,CR600343,CR600678,CR601132,CR601380,CR603115,CR603810,CR603856,CR604318,CR604806,CR604838,CR606867,CR608163,CR608376,CR608777,CR609091,CR609895,CR610029,CR610375,CR611165,CR611353,CR611922,CR612193,CR612436,CR613720,CR613728,CR614141,CR614247,CR614849,CR615147,CR616299,CR617010,CR617131,CR617251,CR617304,CR618175,CR618178,CR618641,CR620390,CR621173,CR621817,CR625284,L26232,NM_182676,NM_006227,AL008726,AY509570,CH471077,U38950,AB076694,AF052157,AK092397,AK092523,AK097009,AK222690,AK289371,BC005045 AAH19847,AAH19898,AAA36443,P55058,Q53H91,ABM82724,ABM85907,NP_872617,NP_006218,CAA15499,CAC36020,AAR87775,EAW75781,EAW75782,EAW75783,EAW75784,EAW75785,EAW75786,EAW75787,BAB79630,BAD96410,BAF82060,AAH05045 Hs.439312 GDB:340911 HDLCQ9 protein-coding 736029 PLUNC palate, lung and nasal epithelium associated This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The exact biological function of this gene is not known, however, it has been suggested to be involved in inflammatory responses to irritants in the upper airways. It may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only two is known. 1580863 11971875,11425234,17988392,17785110,16713569,16364440,16195890,15489334,15313462,15158712,12975309,12920053,12874788,12753706,12477932,12409287,11821380,11788998,11780052,11251963,11018263 51297 NM_016583,AF214562,AF421369,AL121901,CH471077,AB024937,AF158745,AF172993,AF417256,AF417257,NM_130852,AF439448,AK292778,AY359020,BC012549,DQ846869 NP_570913,NP_057667,AAG13653,AAO12200,CAC03549,EAW76327,EAW76328,EAW76329,BAA93633,AAF82622,AAF70860,AAO12198,AAO12199,AAL87636,BAF85467,AAQ89379,AAH12549,ABI63356,Q9NP55 Hs.211092 GDB:11507434 LPLUNC3|LUNX|NASG|SPLUNC1|SPURT|bA49G10.5 palate, lung and nasal epithelium carcinoma associated protein-coding 1353643 PLVAP plasmalemma vesicle associated protein 16278383,15971170,15489334,15155804,14702039,12477932,12475376,11401446,10366592 83483 NM_031310,AC010319,AC010463,CH471106,AF326591,AF348827,AK074054,AK096030,AL834363,BC050365,BC056414,CR590412,D83199 NP_112600,EAW84600,AAK11226,AAK20040,BAB84880,BAC04681,CAD39027,AAH50365,AAH56414,Q9BX97 Hs.107125 GDB:11507436 FELS|PV-1|PV1|gp68 protein-coding 1352937 PLXDC1 plexin domain containing 1 1580863 10947988,17560052,15574754,15489334,14702039,12477932,11559528,9110174,8619474 57125 AY704670,AY704671,AY704672,BC036059,AC004408,AC091178,CH471152,AF070526,AF279144,AF378753,AK093589,AK127539,AL833517,NM_020405 AAV85657,AAV85658,AAV85659,AAH36059,Q6ZSC8,Q8IUK5,EAW60551,EAW60552,EAW60553,AAG00869,AAL11990,BAC87025,NP_065138 Hs.125036 DKFZp686F0937|FLJ36270|FLJ45632|TEM3|TEM7 protein-coding 1314300 PLXDC2 plexin domain containing 2 16335952,15574754,15489334,15164054,14702039,12975309,12477932,11559528 84898 NM_032812,AC067743,AC069549,AL157397,AL353147,CH471072,AF378757,AK027529,AY358486,BC012885 NP_116201,CAH71083,CAH71084,EAW86177,EAW86178,EAW86179,AAL11994,BAB55178,AAQ88850,AAH12885,Q6UX71 Hs.658134 FLJ14623|TEM7R protein-coding 1342576 PLXNA1 plexin A1 1580863 8570614,10520995,16641997,15187088,14977921,14702039,14500350,12559962,12477932,12093729,11784792,11239433,11230166,11108845,10520994 5361 NM_032242,AC011199,CH471052,AK054675,AK055605,AK126101,AK127254,AK128612,AL136663,BC017323,BC032432,BC042904,BQ920360,X87832 NP_115618,EAW79349,EAW79350,EAW79351,BAC86440,AAH32432,CAB57274,Q6ZTY7,Q7L1B0,Q9NSM6,Q9UIW2,AAI56130,AAI57021 Hs.432329 GDB:9864393 NOV|NOVP|PLEXIN-A1|PLXN1 protein-coding 1313288 PLXNA2 plexin A2 This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. 1580863 18065206,17346868,17339520,16932874,16402134,16344560,15818466,15489334,14702039,12975309,12477932,10520995,9455484,8570614,12421765 5362 NM_025179,AL356275,AL590138,AL606753,CH471100,AB007932,AK021813,AK055196,AK094259,AK094367,AK125154,AL544219,AY358496,BC006193,BC009343,BC032125,BC094835,BC132676,CR621426,DA500239,H11743,X87831 NP_079455,CAI40198,EAW93457,BAA32308,BAB13902,BAB70871,AAQ88860,AAH06193,AAH09343,AAH32125,AAH94835,AAI32677,CAB57275,O75051,Q5JRL6,Q8N5M2,Q96DQ4,Q9HAE7 Hs.497626 GDB:9864395 FLJ11751|FLJ30634|KIAA0463|OCT|PLXN2 protein-coding 1349180 PLXNA3 plexin A3 1580863 8570614,15203218,15146197,10737800,10520995,8806646,8733135,8281148,8248200 55558 NM_017514,BX936365,CH471172,BF798844,CD365141,CD628272,CN427843,CN427844,CN427848,X74609,X87852 NP_059984,CAI43194,EAW72702,EAW72703,CAA61132,P51805 Hs.632839 GDB:9798413 6.3|HSSEXGENE|PLEXIN-A3|PLXN3|PLXN4|SEX|XAP-6 protein-coding 1351830 PLXNA4A plexin A4, A 1580863 15489334,14702039,12975309,12853948,12690205,10997877,10520995,9074931,12110185 57671 AB046770,CH236950,AA076688,AA076883,AA076904,AA077578,AA077700,AK092345,AK095606,AL834504 BAB13376,EAL24077,BAC03866,BAC04587,CAD39161,Q8NAP5,Q9HCM2 Hs.511454 GDB:11508448 DKFZp566O0546|FLJ35026|FLJ38287|PLEXA4|PLXNA4 protein-coding 1602663 PLXNA4B plexin A4, B 12975309,12477932 91584 NM_181775,AC009365,AC009785,AC026239,CH236950,CH471070,AK123428,AL137352,AY358850,BC028744 NP_861440,EAL24076,EAW83793,EAW83794,EAW83795,EAW83796,BAC85615,CAB70707,AAQ89209,AAH28744 Hs.675491 DKFZp434G0625|DKFZp434G0625PRO34003|FAYV2820|PRO34003 protein-coding 1321541 PLXNB1 plexin B1 1580863 10520995,18279812,18275816,18025083,18024597,17916560,17855350,17383649,16335952,16055703,15929008,15632204,15210733,15184888,14702039,12730235,12533544,12477932,12406905,12220504,12198496,12196628,12183458,12123608,11937491,11035813,9455477,8570614,12559962,15642257,15297673 5364 NM_002673,AC104448,CH471055,AB007867,AJ011414,AJ011415,AK091832,AK092609,BC066773,BC129947,BC146793,X87904 NP_002664,EAW64864,EAW64865,EAW64866,BAA23703,CAB56221,CAB56222,AAI46794,CAB57277,O43157 Hs.476209 GDB:9864397 KIAA0407|PLEXIN-B1|PLXN5|SEP protein-coding 1313554 PLXNB2 plexin B2 Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM] 1580863 16303743,15489334,15184888,15146197,14702039,12533544,12477932,12183458,10591208,10520995,9205841,8593609,7889532,12123608,12730235 23654 AL022328,BX649592,CR790389,AB002313,AB075511,AK025415,AK025701,AK056543,AK074932,AK123131,AK126394,BC000221,BC004542,BC110366,BC127770,BC148225,BT006887,CN388620,CR596523,CR612059,S76730,NM_012401 Q2TBE4,Q3LIB1,Q7Z2L0,NP_036533,CAO03495,CAO03496,CAO03497,CAO03498,CAO03500,BAA21571,BAE45757,AAH04542,AAI10367,AAI27771,AAP35533,AAB33781,O15031,Q16293 Hs.3989 GDB:9785558 KIAA0315|MM1|Nbla00445|PLEXB2|dJ402G11.3 protein-coding 1350171 PLXNB3 plexin B3 1334509,1580863 17033634,16122393,15790807,15218527,15184888,12183458,10574462,10520995,9286695,8661155 1334509 5365 NM_005393,CH471172,U52111,AB033032,AF149019,AK292535,AY927551 NP_005384,EAW72815,BAA86520,AAG01376,BAF85224,Q9ULL4 Hs.632833 GDB:9864399 FLJ76953|PLEXB3|PLEXR|PLXN6 protein-coding 1316607 PLXNC1 plexin C1 1580863 9586637,17671519,17081983,12477932,10520995,9110174,8619474 10154 NM_005761,AC073655,AC123567,CH471054,AB208934,AF030339,BC029934 NP_005752,EAW97500,BAD92171,AAC18823,O60486,AAI48591,AAI56868 Hs.584845 GDB:9955316 CD232|PLXN-C1|VESPR protein-coding 1321904 PLXND1 plexin D1 16335952,15489334,15301830,12477932,12421765,12412018,10520995,9734811,15239958 23129 NM_015103,AC023162,AC080007,CH471052,AB014520,AK026388,AY116661,BC003526,BC011848,BC030110,BC044228,BC062465,BC150280,BU527983,CR597167,CR620577,CX761094 NP_055918,EAW79238,EAW79239,EAW79240,BAA31595,AAM49063,AAH03526,AAH11848,AAH44228,AAH62465,AAI50281,Q6P657,Q86YC4,Q9Y4D7 Hs.301685 GDB:11508450 KIAA0620|MGC75353|PLEXD1 protein-coding 1602433 PM20D1 peptidase M20 domain containing 1 14702039,12477932 148811 NM_152491,AC119673,CH471067,AK057131,AK290786,BC039170,BC063477,BI832659 NP_689704,EAW91584,EAW91585,BAB71368,BAF83475,AAH39170,AAH63477,Q6GTS8 Hs.177744 Cps1|FLJ32569 protein-coding 1317289 PM20D2 peptidase M20 domain containing 2 14702039,12477932 135293 NM_001010853,AL353135,CH471051,AK094996,AK127529,BC035036,BC045583,BX640865 NP_001010853,CAI16248,EAW48559,AAH35036,AAH45583,CAE45925,Q8IYS1 Hs.706818 ACY1L2|bA63L7.3 aminoacylase 1-like 2 protein-coding 1347426 PMAIP1 phorbol-12-myristate-13-acetate-induced protein 1 1580863 15694340,15901672,15705586,18192275,17227835,17216584,17038534,16928686,16888645,16782027,15572378,15489334,15299072,15102863,14699081,14500711,12879012,12477932,11181995,10807576,2398525,15856024 5366 NM_021127,AC107990,CH471096,BC013120,BC032663,BF667112,BM999509,CR591391,D90070 NP_066950,AAH13120,AAH32663,BAA14111,Q13794,Q8N589 Hs.96 GDB:127384 APR|NOXA protein-coding 731886 PMCH pro-melanin-concentrating hormone 1580863,1624360,1642486,1642484 9191099,11122347,10037747,8770919,8188237,2149166,11416225,11404457,11274220,16189514,1572663,8326825,17640905,17541984,15870910,15546902,12885269,12477932,12220661,12176038,12106685,11839762,11483240,11478907 1624360,1642484 5367 NM_002674,AC087882,CH471054,S63697,AV723033,BC018048,CB047053,M57703 NP_002665,EAW97693,AAB27493,AAH18048,AAA63214,P20382,Q8WVG0,ABM83261,ABM86466 Hs.707990 GDB:128784 MCH 1643258,1643266,1643270,1643277 BW205_H,BW201_H,BW198_H,BW203_H protein-coding 1353662 PMCHL1 pro-melanin-concentrating hormone-like 1 1580863 8188237 5369 Q16048 NM_031887 GDB:136302 1346499 PMCHL2 pro-melanin-concentrating hormone-like 2 1580863 11181993,11070051,8188237 5370 NR_003922,AC139463,AC145141,AF238383,AY028320,AY008412,AY008413 AAK31290,AAK31296,AAK31297,Q9BQD1 GDB:136303 pseudo 1317924 PMEPA1 prostate transmembrane protein, androgen induced 1 1580863 10873380,18174752,16713569,15489334,14639658,12907594,12670906,12477932,11780052,11568975,11042109 56937 NM_199171,NM_199169,NM_199170,NM_020182,AF305426,AL035541,AL121913,AL161943,CH471077,AF224278,AF305616,AJ308020,AJ308021,AL732104,AY128643,BC015918,BC025361,BC080635,AK024618,BM846677,BQ690750,CR612083 NP_954640,NP_954638,NP_954639,NP_064567,AAL09357,CAI23105,CAI23106,EAW75504,EAW75505,EAW75506,EAW75507,EAW75508,AAF86322,AAL16781,AAM89277,AAH15918,AAH80635,Q5TDR5,Q66K30,Q8NER4,Q969W9 Hs.517155 GDB:11504597 STAG1|TMEPAI|tmepai transmembrane, prostate androgen induced rna protein-coding 1317520 PMF1 polyamine-modulated factor 1 1580863 15502821,12256947,10419538,16585270,16710414,15489334,14702039,12477932,12020345,11256947,15371340 11243 NM_007221,AF141309,AL135927,CH471121,AF141310,AK022523,AK124646,AK289490,AK290260,AL080101,BC050735,BC065031,CR616631,BC056417 NP_009152,AAD50080,CAI15524,CAI15535,CAI15536,CAI15540,EAW52989,AAD50081,BAC85916,BAF82179,BAF82949,CAH10730,AAH50735,AAH56417,AAH65031,Q5TCK1,Q6P1K2,Q6ZVE6,ABM92199,ABM84667 Hs.530479 GDB:9957524 protein-coding 1345041 PMFBP1 polyamine modulated factor 1 binding protein 1 16381901,15489336,14702039,12477932,11468771,11230166,11076863,10493829 83449 NM_031293,AC004682,CH471166,AF239683,AK093285,AK097465,AK122925,AL136795,BC028423 NP_112583,EAW59175,EAW59176,EAW59177,EAW59178,EAW59179,AAK15456,BAC04121,CAB66729,AAH28423,Q0JUN9,Q8TBY8,CAL37772,ABZ92204 Hs.151218 GDB:11507438 DKFZP434G131|FLJ40146 protein-coding 1345145 PML promyelocytic leukemia The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 15968309,15922731,15855159,15809060,15749021,15746941,15735755,15601827,15589835,15569683,15467728,15459016,15359634,15356634,15331439,15273249,15194430,15184504,15163746,15136035,15096541,15060166,14992722,14970276,14970191,14715247,14702039,14663483,14645235,14630830,14597990,14597622,14534537,14528266,14526201,14507915,12950020,12935927,12917339,12907596,12837286,12810724,12759344,12727882,12717420,12691149,12647219,12622724,12610143,11331580,11175338,11158586,11080164,11025664,10938104,10806494,10684855,10669754,10610177,10597310,10525530,10077561,9819401,9756909,9583681,9570750,9452416,9420283,8806687,8394219,8380300,8293467,8274203,7935403,7780148,7729428,1720570,1652368,1594241,1312695,1311253,16189514,11430826,16007146,12595526,12540841,12506025,12506013,12505266,12477932,12438698,12419228,12402044,12384561,12354770,12234245,12186918,12167712,12142048,12093737,12080044,12060771,12032831,12032336,12006491,11948183,11940591,11907221,11891284,11832207,11704853,11704850,11585900,11500381,11430827,17767548,17562868,17543368,17475621,17428679,17419608,17360386,17173041,17172828,17146439,17081983,17062732,17027752,16935935,16924230,16916642,16909106,16873257,16873256,16818720,16797070,16630218,16540467,16501610,16501113,16449642,16432238,16307818,16154611,16113082,17081985,1652369,9294197,9671405,11259576,11432836,12915590,14976184,15626733,16915281,12773567,16912307,17332504,9448006,10910364,16778193,15195100,18160400,18158568,18056407,18039859,17996922,17991421,17960172,17942542,17878236,17822314 5371 NM_002675,NM_033249,NM_033246,NM_033244,NM_033240,NM_033239,NM_033250,NM_033247,AC013486,AC108137,CH471082,S51489,S68527,X64800,AB208950,AB209051,AB209411,AF230401,AF230402,AF230403,AF230404,AF230405,AF230406,AF230407,AF230408,AF230409,AF230410,AF230411,AF370432,AK026871,AK096663,BC000080,BC020994,BC034251,BC139795,BF510860,BT009911,BX647287,NM_033238,M73778,M79462,M79463,M79464,M80185,S50913,X63131,CR602508 NP_150241,NP_002666,NP_150252,NP_150249,NP_150247,NP_150243,NP_150242,NP_150253,NP_150250,EAW77946,EAW77947,AAD13865,AAB29490,CAA46026,BAD92187,BAD92288,BAD92648,AAG50180,AAG50181,AAG50182,AAG50183,AAG50184,AAG50185,AAG50186,AAG50187,AAG50188,AAG50189,AAG50190,AAQ15268,AAH00080,AAH20994,AAI39796,AAP88913,AAA60125,AAA60388,AAA60351,AAA60390,AAA60352,AAB19601,CAA44841,P29590,Q05835,Q15959,Q59FP9,Q59GQ8,Q59H09,Q71RA7,Q9BPW2,Q9BWP7,Q9BZX6,Q9BZX7,Q9BZX8,Q9BZX9,Q9BZY0,Q9BZY1,Q9BZY2,Q9BZY3,Q9UE85 Hs.526464 GDB:127542 MYL|PP8675|RNF71|TRIM19 protein-coding 1322064 PMM1 phosphomannomutase 1 Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. 1580863 9070917,17186415,17054774,16540464,16189514,15489334,15461802,14702039,12789572,12477932,10591208,10085245,9603909,9376685,9271215,9119384 5372 AL023553,CH471095,AK094811,AK130449,AK289368,BC010855,BC016818,CR456544,CR592905,CR597903,CR605453,CR625637,D87810,U62526,U86070,NM_002676 NP_002667,CAB46025,EAW60443,EAW60444,BAF82057,AAH10855,AAH16818,CAG30430,BAA13460,AAC51117,AAC00023,Q92871,CAK54575,CAK54874 Hs.75835 GDB:3925888 Sec53 protein-coding 1319677 PMM2 phosphomannomutase 2 Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway manifest as carbohydrate-deficient glycoprotein syndrome type I. 1599132,1599134,1580863 9140401,17694350,17451957,17307006,17166182,15844218,15489334,15342340,13129599,12905014,12477932,12357336,11935250,11891694,11875054,11701646,11404002,11350185,11058896,11058895,10922383,10801058,10602363,10571956,10527672,10066032,9887379,9781039,9497260,9425221,9070917,7874123 1599132,1599134 5373 NM_000303,AC012173,AF157796,CH471112,AB209659,AK291537,BC008310,U85773 NP_000294,AAD45895,EAW85200,EAW85201,EAW85202,EAW85203,BAD92896,BAF84226,AAH08310,AAC51368,O15305,Q59F02 Hs.708267 GDB:438697 CDG1|CDG1a|CDGS protein-coding 1347812 PMM2P1 phosphomannomutase 2 pseudogene 1 9425221 5374 GDB:9860542 1316684 PMP2 peripheral myelin protein 2 1580863 15489334,15252450,12477932,11241848,8288226,7525873,6206203,6183401,6172423,2458918,2453513,1720307 5375 NM_002677,AC018616,CH471068,D16181,S73470,BC034997,CF455669,CR541649,CR541738,DQ786226,X62167 NP_002668,EAW87090,BAA03726,AAB32592,AAH34997,CAG46450,CAG46538,CAA44096,P02689,Q6FHL4,ABM82432,ABM82433,ABM85623 Hs.571512 GDB:129030 FABP8|M-FABP|MP2|P2 protein-coding 69112 PMP22 peripheral myelin protein 22 This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. 1358786,1358560,1580863 15891642,15786462,15755691,15564036,15555916,15489334,15205993,15099592,15099590,15083696,15050444,14581692,12823620,12796555,12578939,12497641,12477932,12439896,12402337,12211648,12207933,12119418,11835375,11545686,11456309,11438991,11140841,10982389,10806367,10737979,10704444,10697408,10663978,10632107,10489052,10330345,10212299,10211478,9888385,9748013,9633821,9585367,9544841,9187667,9055797,9040744,9040737,9004143,8995589,8988161,8786387,8777804,8655153,8615087,8541860,8510709,8500795,8482547,8422677,8252046,8105684,8012388,7929285,7825607,7762451,7728152,7675244,7518101,1835375,1822787,1721895,1677316,1556154,1552542,1552536,1497668,1349106,1303281,1303231,1303229,1303228,1303210,1297450,954484,16189514,15955700,8275092,18353535,17917930,17824619,17707409,17620487,16912585,16683188,16481890,16463004,16437560,16436605,16326107,16199442 1358786,1358560 5376 NM_000304,NM_153322,AC005703,AF059314,CH471108,U08049,U08096,AK290640,BC019040,BC091499,CR541931,CR541953,CR592810,CR593633,CR597127,CR597311,CR598725,CR602788,CR602976,CR603134,CR604376,CR604692,CR604834,CR605458,CR608530,CR610349,CR611493,CR611595,NM_153321,CR612069,CR615033,CR615858,CR618437,CR618628,CR618649,CR621373,CR622251,CR624540,D11428,L03203,M94048,S61788,X65968 NP_696996,NP_000295,NP_696997,EAW89946,EAW89947,EAW89948,EAW89949,BAF83329,AAH19040,AAH91499,CAG46729,CAG46751,BAA01995,AAA58495,AAA36457,AAB26811,CAA46781,Q01453,Q6FH25,ABM83549,ABM86789 Hs.372031 GDB:119785,GDB:134190 CMT1A|CMT1E|DSS|GAS-3|HMSNIA|HNPP|MGC20769|Sp110 protein-coding 1605235 PMP22CD PMP22 claudin domain-containing protein 338661 NM_001013743,AP002407,CH471065,AY634366 NP_001013765,EAW67557,EAW67558,EAW67559,AAT47557,Q6GV28 Hs.98377 protein-coding 1346872 PMPCA peptidase (mitochondrial processing) alpha 1580863 10942759,9299349,15489334,15188402,14702039,12477932,11840567,8590280,7836378,7788527 23203 NM_015160,AL592301,CH471090,AK091455,BC004342,BC022949,BC033103,BC111399,BC114360,BC132724,BC136599,CR592081,CR625519,D21064,D50913 NP_055975,CAI13944,CAI13945,CAI13946,EAW88232,AAH04342,AAH22949,AAH33103,AAI11400,AAI14361,AAI32725,AAI36600,BAA04643,BAA09472,Q10713,Q5SXM9,Q5SXN0,Q9BT52 Hs.495471 Alpha-MPP|INPP5E|KIAA0123|MGC104197 protein-coding 733027 PMPCB peptidase (mitochondrial processing) beta This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. 1298632,1580863 15489334,15342556,14702039,12853948,12477932,12186850,11042152,10942759,10545606,9700204,9653160 1298632 9512 AC004668,CH471070,AF054182,AI261792,AK000994,AK057656,AK090763,AK098616,AK289864,AL050216,BC010398,BC014079,BP311561,BQ021474,CR594265,CR595035,CR597439,CR599164,CR602632,CR602907,CR608633,CR611191,CR614942,CR617716,CR622114,CR622378,NM_004279 EAW83325,EAW83326,EAW83327,EAW83328,AAC39915,BAF82553,CAB43319,AAH10398,AAH14079,O75439,Q96CP5,Q9UG64,ABM83839,ABM87161,NP_004270 Hs.184211 GDB:9957219 Beta-MPP|MPP11|MPPB|MPPP52 mitochondrial processing peptidase beta protein-coding 1346392 PMPS Pearson marrow pancreas syndrome 5377 GDB:9958159 1349068 PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene. 1599137,1580863 8072530,18364438,17494052,17148452,16774946,15856462,15226443,12477932,11999575,11809883,11292842,10828585,10480359,10459502,9500994,8889548,8666228,8128251,7980603,16189514,12799449,10748159 1599137 5378 BM553209,BM677668,BM800196,BT006947,CR610658,CR749432,BC096332,NM_000534,AB006462,AC008122,AC013468,AY267352,CH471058,U13695,AB102869,AB102870,AB102871,AB102872,AB102873,AB102874,AB102875,AB102876,AB102877,AY540750,AY540751,BC008410,BC036376,BC084548,BC096330,BC096331 AAH96332,AAP35593,CAH18270,P54277,Q3BDU3,Q3BDU4,Q4VAL4,Q4VAL5,Q5FBZ1,Q5FBZ2,Q5FBZ3,Q5FBZ4,Q5FBZ5,Q5FBZ6,Q5FBZ7,Q5FBZ8,NP_000525,AAO89079,EAX10883,EAX10884,EAX10885,AAA63922,BAD89398,BAD89399,BAD89400,BAD89401,BAD89402,BAD89403,BAD89404,BAD89405,BAD89406,ABB04019,ABB04020,AAH08410,AAH84548,AAH96330,AAH96331,Q5FBZ9,Q5XG96,Q68DF0,Q96HL0 Hs.111749 GDB:386403 DKFZp781M0253|HNPCC3|PMSL1|hPMS1 protein-coding 1313536 PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) This gene is one of the PMS2 gene family members which are found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. The protein forms a heterodimer with MLH1 and this complex interacts with MSH2 bound to mismatched bases. Defects in this gene are associated with hereditary nonpolyposis colorectal cancer, with a Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed. 1599141,1599142,1599137,1580863 10871409,16403449,11793469,11809883,18364438,12799449,12684669,12601175,12477932,11948175,11897781,11429708,11427529,11292842,10954713,10783165,10763829,10480359,10072354,10037723,9419979,9000555,8889548,8666379,8586419,8072530,7661930,10748159,18307725,18273873,18270339,18206974,18030674,17851451,17653898,17581638,17557300,17493242,17417778,17312306,17148452,17044039,17029773,17016615,16964243,16885385,16774946,16740762,16507833,16472587,16344560,16166421,16116158,16042583,15887099,15256438,15226443,15077197,14871975,14756672,14676842,12853948 1599141,1599142,1599137 5395 NM_000535,NR_003085,AC005995,CH878731,U13696,AB103082,AB103083,AB103085,AB103086,BC008400,BC031832,BC093921,BM669686,BQ050630,BX537558,DA774159,DB527312,U14658 NP_000526,AAS00390,EAW55055,AAA63923,BAD89425,BAD89426,BAD89428,BAD89429,AAH31832,AAH93921,CAD97782,AAA50390,P54278,Q5FBW8,Q7Z3Q2,Q8N5Q6 Hs.632637 GDB:386406 HNPCC4|PMS2CL|PMSL2 protein-coding 2291758 PMS2CL PMS2 C-terminal like pseudogene 17253626,15256438,12477932 441194 NR_002217,AC073343,AB116525,BC041364,CR749616 BAC81643,AAH41364,CAH18410,Q68D20 Hs.73105 pseudo 1352973 PMS2L1 postmeiotic segregation increased 2-like 1 1580863 7980603,10101297,16344560,12690205,12477932,8586419 5379 NR_003613,AC005071,CH236956,CH471091,AB017004,BC038996,BC044214,BC067809,BC110395,D38435,D38499,DA706474 EAL23838,EAL23839,EAL23840,EAL23842,EAW76559,BAA74753,AAH67809,AAI10396,BAA07470,BAA07511,A4D2B8,A4D2C0,Q16590 Hs.634244,Hs.654752,Hs.661055 GDB:437142 PMS2L13|PMS2L6|PMS3|PMS8 pseudo 1342554 PMS2L10 postmeiotic segregation increased 2-like 10 8586419 5388 GDB:6762945 1354080 PMS2L11 postmeiotic segregation increased 2-like 11 1580863 8586419,7980603,12477932,9344666 441263 XM_001717503,XM_001715908,AC114737,BC015750,U38980 XP_001717555,XP_001715960,AAA97460,Q13670 Hs.113940 GDB:6763041 PMSR6 protein-coding 1351398 PMS2L12 postmeiotic segregation increased 2-like 12 9799793 57293 AF030453 GDB:9848781 PMSL12 protein-coding 1603323 PMS2L2 postmeiotic segregation increased 2-like 2 10101297,12477932,8586419,7980603 5380 XR_042167,XR_042144,XR_042161,NR_003614,AC004980,AC006972,AC007000,AC007003,AC114737,AB017005,AB017006,AB017007,BC010535 BAA74754,BAA74755,BAA74756,O95744,O95745,O95746 Hs.292996,Hs.661055,Hs.675888 GDB:437143 PMS4 pseudo 1606835 PMS2L3 postmeiotic segregation increased 2-like 3 7980603,12477932,10737800,8586419 5387 CR620519,CR621744,D38437,D38498,NM_001003686,NM_005395,XM_001716315,AC018720,CH471220,U38979,BC007683,BC014421,BC046153,BC087844,BC101598,BE938866 BAA07472,BAA07510,Q13401,Q16603,Q3MJ29,NP_001003686,NP_005386,XP_001716367,EAW71765,EAW71766,AAA97459,AAI01599 Hs.436034,Hs.659871,Hs.661055 GDB:437144 MGC126647|PMS2L9|PMS5|PMSR3 protein-coding 1349996 PMS2L4 postmeiotic segregation increased 2-like 4 1580863 7980603,16913423,12477932,8586419 5382 XM_001715595,XM_001714693,XM_001715426,XM_001715786,NR_022007,AC006480,BC029368,BC029419,BC038841,D38438,D38500 XP_001715647,XP_001714745,XP_001715478,XP_001715838,BAA07473,BAA07512,Q16544 Hs.658037 GDB:437145 PMS6 pseudo 1354240 PMS2L5 postmeiotic segregation increased 2-like 5 1580863 7980603,12477932,8586419 5383 NM_174930,XM_001713820,AC004166,AA621085,BC052588,BF984173,D38436,D38439,D38501,D38502 NP_777590,XP_001713872,AAH52588,BAA07471,BAA07474,BAA07513,BAA07514,A8MQ11,Q15157,Q16673,Q7Z7L0,AAI52851 Hs.292996,Hs.647025 GDB:437146 MGC34222|PMS7 protein-coding 1353301 PMS2L7 postmeiotic segregation increased 2-like 7 8586419 5385 GDB:6762466 1345139 PMS2L8 postmeiotic segregation increased 2-like 8 1580863 8586419 5386 U38964 AAA97458,Q13400 GDB:6762730 PMSR2 protein-coding 1345112 PMS2LP1 postmeiotic segregation increased 2-like pseudogene 1 8586419 5391 GDB:6763161 1354429 PMS2LP2 postmeiotic segregation increased 2-like pseudogene 2 8586419 5392 GDB:6763257 1321931 PMVK phosphomevalonate kinase PMVK (EC 2.7.4.2) is a peroxisomal enzyme that catalyzes the conversion of mevalonate 5-phosphate into mevalonate 5-diphosphate as the fifth reaction of the cholesterol biosynthetic pathway.[supplied by OMIM] 1580863 10191291,17353931,17902708,15489334,14729858,12477932,8663599,8188698 10654 NM_006556,AF026069,AL451085,CH471121,AK130234,BC006089,BC007694,BF221848,BQ061044,BT019976,CR541998,CR599616,CR603108,CR604920,CR622269,L77213 NP_006547,AAC60791,CAI13237,EAW53177,EAW53178,AAH06089,AAH07694,AAV38779,CAG46795,AAC37593,Q15126,Q5TZW9,Q6FGV9 Hs.30954 GDB:3801878 HUMPMKI|PMK|PMKA|PMKASE protein-coding 1605290 PNCK pregnancy upregulated non-ubiquitously expressed CaM kinase PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM] 15489334,12477932,11034105,10673339 139728 NM_001039582,CH471172,BC033746,BC064422,CR611192 NP_001034671,EAW72834,EAW72835,EAW72836,EAW72837,EAW72838,EAW72839,EAW72840,EAW72841,EAW72842,EAW72843,EAW72844,EAW72845,AAH33746,AAH64422,Q6P2M8,ABM82972,ABM86166 Hs.436667 BSTK3|CaMK1b|MGC45419 protein-coding 1346850 PNKD paroxysmal nonkinesigenic dyskinesia 16972263,16381901,16189514,15824259,15496728,15496428,15489336,15188498,15188056,12975309,12477932,11256614,11076863,10574461,9490305,8659518,8659517,8288249 25953 AY039043,AY358680,AY358753,BC002937,BC007543,BC021118,BC036457,BI764334,CR600095,AL137675,NM_001077399,NM_022572,AC021016,AF390031,CH471063,AB033010,AF318057,AF417001,AF418285,AK289867,AL080092,NM_015488 AAK83449,AAQ89043,AAQ89113,AAH02937,AAH21118,AAH36457,Q6UWR5,Q8N490,Q96P23,CAB70870,CAL37953,CAL38046,NP_056303,NP_001070867,NP_072094,AAM73649,EAW70602,EAW70603,EAW70604,EAW70605,EAW70606,BAA86498,AAL25716,AAL08573,AAL08580,BAF82556,CAB45707 Hs.98475 GDB:5583973 BRP17|DKFZp564N1362|DYT8|FKSG19|FPD1|KIAA1184|KIPP1184|MGC31943|MR-1|MR1|PDC|TAHCCP2 protein-coding 1344743 PNKP polynucleotide kinase 3'-phosphatase 1332584,1580863 10446192,10446193,17353931,18414202,17650498,17638872,17081983,16364363,16189514,15635413,15489334,15385968,15231748,15057824,14556639,12477932,12032095,11163244,15260972,15066279 1332584 11284 NM_007254,AC018766,AC118341,AF354258,AY133033,CH471177,AF120499,AF125807,AF126486,BC002519,BC009339,BC013034,BC033822,CR590331,CR594341,CR598028,CR599191,CR600664,CR605495,CR612354,CR615833,CR620645,CR621711,CR623076,CR624604 NP_009185,AAF44716,AAK57340,AAM82170,EAW52565,EAW52566,EAW52567,AAD47379,AAD50639,AAD51135,AAH02519,AAH33822,Q96T60,Q9BUL2,ABM81732,ABM84887 Hs.78016 GDB:9957650 PNK protein-coding 1318591 PNLDC1 poly(A)-specific ribonuclease (PARN)-like domain containing 1 1580863 14702039,12477932 154197 NM_173516,AL139045,CH471051,AK093139,AK097559,BC112246 NP_775787,CAI19750,EAW47612,EAW47613,BAC04070,BAC05101,AAI12247,Q8NA58 Hs.349077 FLJ40240|MGC138451|dJ195P10.2 protein-coding 734222 PNLIP pancreatic lipase This gene is a member of the lipase gene family. It encodes a carboxyl esterase that hydrolyzes insoluble, emulsified triglycerides, and is essential for the efficient digestion of dietary fats. This gene is expressed specifically in the pancreas. 1300048,1580863,1358859 18353248,17269661,16431912,16179352,15489334,15316225,14580194,12667003,12477932,12369922,11393534,11278590,9631512,9240923,8479519,8406023,8029213,7601150,2479644,2106079,1522902,1379598,16189514,1783385 1358859 5406 NM_000936,AH003527,AL731653,CH471066,L24529,BC007025,BC014309,J05125,M93285,A24059 NP_000927,CAH72667,EAW49451,AAA99053,AAH14309,AAA36740,AAA60129,P16233,Q5VSQ2,CAA01714 Hs.501135 GDB:127916 PL protein-coding 732485 PNLIPRP1 pancreatic lipase-related protein 1 1300048,1580863 1379598,15489334,12477932 5407 NM_006229,AC016825,CH471066,AK130236,BC005233,BC025784,CR749299,CR749524,CR749596,M93283 NP_006220,EAW49449,EAW49450,AAH05233,AAH25784,CAH18154,CAH18337,CAH18394,AAA59532,P54315,Q68D36 Hs.73923 GDB:134816 PLRP1 pancreatic lipase related protein 1 protein-coding 733600 PNLIPRP2 pancreatic lipase-related protein 2 1300048,1580863 1379598,17401110,16887271,15489334,15342556,15287741,12477932 5408 NM_005396,AC016825,CH471066,AK291492,BC005989,BP325072,BQ786898,BU078199,CR456949,M93284 NP_005387,EAW49447,EAW49448,BAF84181,AAH05989,CAG33230,AAA59533,P54317,Q6IB55,ABM84052,ABM87402 Hs.423598 GDB:134817 PLRP2 protein-coding 1353570 PNLIPRP3 pancreatic lipase-related protein 3 12477932 119548 NM_001011709,AC011328,CH471066,AL833418,BC015840,BC065752,BC117224 NP_001011709,EAW49452,AAI17225,Q17RR3 Hs.276724 protein-coding 737176 PNMA1 paraneoplastic antigen MA1 724595 14676191,10050892,16214224,15489334,12477932 724595 9240 NM_006029,AC006146,CH471061,AF037364,AF320308,AK290980,AL834327,BC007712,BC039577,BG700354,BG719761,CR457112 NP_006020,EAW81126,AAD13810,AAN05100,BAF83669,CAD38995,AAH39577,CAG33393,Q6IAP2,Q8ND90 Hs.194709 GDB:9955520 MA1 protein-coding 1316357 PNMA2 paraneoplastic antigen MA2 17353931,16344560,15489334,14702039,12477932,11558790,10362822,10050892,10048485,8889549 10687 NM_007257,AC015743,CH471080,AA025092,AB020690,AF037365,AF083114,AF083115,AK055325,BC036489,BC047515,BC062301,CR609060,DA779744 NP_009188,EAW63575,BAA74906,AAD02098,AAF05625,AAF05626,AAH36489,AAH47515,AAH62301,Q5U5Z3,Q9UL42 Hs.591838,Hs.702011,Hs.702013 GDB:9958142 KIAA0883|MA2|MM2|RGAG2 protein-coding 1349093 PNMA3 paraneoplastic antigen MA3 This gene is a member of the paraneoplastic antigen MA (PNMA) gene family, whose protein products share homology with retroviral Gag proteins. They are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. 1580863 16407312,16344560,16214224,15489334,12477932,11558790 29944 NM_013364,AC152006,CH471172,AF083116,AI689415,AL136878,BC030761,BC105096,BC105098,DA237274,DR001205 NP_037496,EAW72888,EAW72889,EAW72890,AAF05627,CAB66812,AAI05097,AAI05099,Q8N624,Q9UL41 Hs.449627 GDB:11510186 MA3|MA5|MGC132756|MGC132758 protein-coding 1347764 PNMA5 paraneoplastic antigen like 5 16214224,15342556,12477932,11572484 114824 NM_001103150,NM_052926,NM_001103151,CH471172,AA732768,AB067521,AY121806,BC101111,BC101112,BC101113,BP213790,DC329825 NP_001096620,NP_443158,NP_001096621,EAW72892,BAB67827,AAM82754,AAI01112,AAI01113,AAI01114,Q96PV4 Hs.573567 GDB:11510188 KIAA1934 protein-coding 1346943 PNMA6A paraneoplastic antigen like 6A 737633 16407312,16381901,16344560,16214224,15489336,14702039,12477932,11256614,11076863 737633 84968 NM_032882,AC151958,CH471172,AK055322,AK289879,BC007631,BF508272,BX423798,BX423799,DB172169 NP_116271,EAW72886,EAW72887,BAB70902,BAF82568,AAH07631,Q96A40,CAL38174 Hs.533301 MGC15827 protein-coding 1625846 PNMA6B paraneoplastic antigen like 6B 15772651,11256614 728513 XM_001721351,AC151958 XP_001721403,P0C5W0 Hs.632835 protein-coding 1605375 PNMAL1 PNMA-like 1 16381901,16344560,15489336,14702039,12477932,12107411,11230166,11076863 55228 NM_018215,NM_001103149,AC011484,CH471126,AK001643,AK096326,AK290218,AL834344,BC026026,BC032508,BC051688,BG708870,BQ637225,BU844519,BX649091,CR607730,CR614621,DA219062,DA325514 NP_060685,NP_001096619,EAW57421,BAA91804,BAF82907,CAD39010,AAH26026,AAH32508,AAH51688,Q0JTB4,Q86V59,CAL37492,CAL37641,CAL37938,CAL38109,CAL38249,CAL38458 Hs.8395 FLJ10781 protein-coding 2290513 PNMAL2 PNMA-like 2 16344560,12477932,10574461 57469 AB033009,AK124720,BC121810,BC122520,BF970252,BX390603,BX488737,CR602896,DA015488,NM_020709,AC011484 BAA86497,BAC85931,AAI21811,AAI22521,Q9ULN7,AAI66688,NP_065760 Hs.7193 FLJ42730|KIAA1183 protein-coding 732850 PNMT phenylethanolamine N-methyltransferase The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. 1358561,1580863,1359087 2835776,18349382,17645789,17544870,17117180,16894395,16645894,16363801,15968085,15893506,15848714,15489334,15010812,14553966,12634439,12477932,12438093,11958827,11900856,11807261,11378842,11140838,9645429,9578504,3945626,3372503,1303174 1358561,1359087 5409 NM_002686,AC087491,CH471152,CS101344,J03280,X52730,BC037246,CR541815,J03727 NP_002677,EAW60588,CAJ00715,AAA60131,CAA36944,AAH37246,CAG46614,AAA60130,P11086,Q6FHD9 Hs.1892 GDB:120271 MGC34570|PENT|PNMTase protein-coding 1349403 PNMTP1 phenylethanolamine N-methyltransferase pseudogene 1 2279621 5410 GDB:128798 1313105 PNN pinin, desmosome associated protein 17353931,8922384,10809736,18086895,17081983,16964243,16565220,16430868,15735603,15542832,15489334,15358154,15324660,15302935,14729963,14578391,14517304,12893261,12477932,12077342,12051732,11991638,10931946,10645008,10486276,10095061,9447706,9373149,8125298 5411 NM_002687,AF195139,AL132639,CH471078,AK223612,AK292579,BC062602,BG057344,BM850066,BQ938918,CD687183,CR603037,CR615582,CR622090,U59479,U77718,Y09703 NP_002678,AAG33941,EAW65820,BAD97332,BAF85268,AAH62602,AAB03391,AAB48304,CAA70874,Q15789,Q9H307 Hs.409965 GDB:9772228 DRS|SDK3|memA|pinin protein-coding 1604334 PNO1 partner of NOB1 homolog (S. cerevisiae) 15497447,16169070,15815621,15489334,12477932,10931946,9373149,8125298 56902 NM_020143,AC017083,CH471053,AF164799,AF349314,AK223118,AK225641,AK291715,BC008304,BC018152,CR591407,CR597643 NP_064528,AAY14714,EAW99879,AAF80763,AAK29434,BAD96838,BAF84404,AAH08304,AAH18152,Q9NRX1 Hs.262858 KHRBP1 protein-coding 733566 PNOC prepronociceptin 1580863 10419552,9521323,18292431,17910740,16344560,15489334,12950177,12812047,12477932,11501941,11436130,11331401,11214319,11097863,10692489,9168905,8710930,8710928,16189514 5368 NM_006228,AC021678,AY011845,CH471080,X97367,AK289633,AY335948,BC034758,BT019334,CR541940,CR541965,DA403369,U48263,X97370 NP_006219,AAG38294,EAW63526,EAW63527,CAA66039,BAF82322,AAP94601,AAH34758,AAV38141,CAG46738,CAG46763,AAC50651,CAA66040,Q13519,Q6FH16,Q9BYY3,ABM82222,ABM85406 Hs.88218 GDB:1278209 PPNOC protein-coding 1315443 PNPLA1 patatin-like phospholipase domain containing 1 18414634,16799181,14702039,12477932 285848 NM_173676,AL512301,CH471081,Z84484,AK096074,AM182887,BC103905,BC103906,BC103907 NP_775947,EAX03883,CAI21612,BAC04697,CAJ58679,AAI03906,AAI03907,AAI03908,Q8N8W4 Hs.407002 FLJ38755|MGC119319|MGC119320|MGC119321|dJ50J22.1 protein-coding 1603138 PNPLA10P patatin-like phospholipase domain containing 10 pseudogene 16799181 643773 XM_927062,XM_938392 XP_932155,XP_943485 protein-coding 1354502 PNPLA2 patatin-like phospholipase domain containing 2 737633 17657808,17631826,17609260,17356053,17327373,17187067,17032652,16799181,16752181,16679289,16644682,16239926,15550674,15364929,15337759,15231748,12477932,9110174,8619474,16189514 737633 57104 NM_020376,AP006621,CH471158,AF055000,AJ278475,AJ278476,AL833707,AY203925,AY894804,BC011958,BC017280 NP_065109,EAX02395,EAX02396,AAC09354,CAC01131,CAC01132,AAP34448,AAW81962,AAH11958,AAH17280,Q96AD5 Hs.654697 1110001C14Rik|ATGL|DESNUTRIN|DKFZp667M109|FP17548|PEDF-R|TTS-2.2|TTS2 protein-coding 1601958 PNPLA3 patatin-like phospholipase domain containing 3 The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. 15364929,16799181,16505250,16150821,15489334,15461802,15181042,12529303,12477932,10591208 80339 NM_025225,AL023654,AL035398,CH471138,AK025665,AK123806,AL138578,BC014449,BC065195,CR456476,CR623185 NP_079501,CAI22840,EAW73323,EAW73324,EAW73325,CAB71238,AAH14449,AAH65195,CAG30362,Q9NST1 Hs.654800 ADPN|C22orf20|iPLA(2)epsilon protein-coding 1346226 PNPLA4 patatin-like phospholipase domain containing 4 737633,1580863 16799181,16741517,15955102,15489334,15364929,12477932,7806223 737633 8228 NM_004650,AC005296,CH471074,U08893,AK289888,BC020746,CR623713,U03886 NP_004641,EAW98751,EAW98752,EAW98753,AAA17838,BAF82577,AAH20746,AAA16491,P41247,ABM82325,ABM85504 Hs.264 DXS1283E|GS2|IPLA2-ETA protein-coding 1343707 PNPLA5 patatin-like phospholipase domain containing 5 Human patatin-like phospholipases, such as PNPLA5, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM] 17603008,16799181,14702039,12477932 150379 NM_138814,CH471138,Z97055,AK056648,AK127172,BC031820,BC104839,BC104843 NP_620169,EAW73321,EAW73322,CAB09789,BAC86866,AAH31820,AAI04840,AAI04844,Q7Z6Z6 Hs.248086 4833426H19Rik|GS2L|dJ388M5|dJ388M5.4 protein-coding 1605701 PNPLA6 patatin-like phospholipase domain containing 6 18313024,17385009,16987144,16799181,16344560,16122834,16010971,15302935,15044461,12640454,12514188,12477932,11927584,10759065,9576844,6836585,4026382,3958422 10908 AC009003,CH471139,AJ004832,AL050362,BC038229,BC050553,BC051768,BQ430066,CR590291,CR603716,DA247219,NM_006702,AC008878 EAW69029,EAW69030,CAA06164,CAB43674,AAH38229,AAH50553,AAH51768,Q8IY17,NP_006693 Hs.631863 NTE|sws protein-coding 1353397 PNPLA7 patatin-like phospholipase domain containing 7 16799181,16344560,14702039,12640454,12477932 375775 NM_152286,NM_001098537,AL365502,CH471090,AK024443,AK055880,AK122590,AK125060,AK126267,AK127249,AK127340,AL832856,AL832944,BC025663,BF507598,DA121537,DA333130 NP_689499,NP_001092007,CAI14579,CAI14581,CAI14582,EAW88396,EAW88397,EAW88398,BAB15733,BAB71033,BAC56931,BAC86036,BAC86509,CAH56483,CAH56322,AAH25663,Q5T362,Q6ZV29 Hs.294147 C9orf111|FLJ31318|FLJ43070|FLJ44279|NTE-R1|NTEL1|RP11-48C7.2 protein-coding 1603644 PNPLA8 patatin-like phospholipase domain containing 8 10744668,16799181,16381901,15695510,15489336,14702039,12690205,12477932,11256614,11230166,11076863,10833412 50640 NM_015723,AC005058,CH236947,CH471070,AB041261,AF217519,AF263613,AF263947,AK002115,AK024335,AK291755,AL834147,BC005203,BC032999,BX647865,CR620052 NP_056538,AAD08847,EAL24384,EAL24385,EAW83432,EAW83433,EAW83434,EAW83435,BAA94997,AAF67630,AAF75269,AAF81246,BAA92090,BAB14890,BAF84444,CAD38859,AAH32999,Q9NP80,CAL37541,ABM81874,ABM85037 Hs.617340 IPLA2(GAMMA)|IPLA2-2|IPLA2G protein-coding 1352951 PNPO pyridoxamine 5'-phosphate oxidase Vitamin B6, or pyridoxal 5-prime-phosphate (PLP), is critical for normal cellular function, and some cancer cells have notable differences in vitamin B6 metabolism compared to their normal counterparts. The rate-limiting enzyme in vitamin B6 synthesis is pyridoxine-5-prime-phosphate (PNP) oxidase (PNPO; EC 1.4.3.5).[supplied by OMIM] 634494,1580863 17851041,16344560,15772097,15489334,15182361,14702039,12824491,12477932,9601034,9373149,8125298 634494 55163 NM_018129,AC018521,CH471109,AF468030,AK001397,AK223242,BC006525,DA186382 NP_060599,EAW94770,EAW94771,AAM76918,BAA91668,BAD96962,AAH06525,Q53FP0,Q9NVS9 Hs.631742 GDB:9957749 FLJ10535|PDXPO pyridoxine 5'-phosphate oxidase protein-coding 1317494 PNPT1 polyribonucleotide nucleotidyltransferase 1 PNPT1 is a subunit of the exosome complex, which is involved in 3-prime-to-5-prime exoribonuclease activity for RNA processing and degradation (Raijmakers et al., 2002 [PubMed 12419256]).[supplied by OMIM] 1580863 18083837,18083836,17983748,17804700,16966381,16966379,16505900,16410805,16344560,16055741,15815621,15489334,14702039,14563561,12798676,12721301,12477932,12473748,12419256 87178 NM_033109,AC015982,CH471053,AJ458465,AY027528,AY290863,BC000862,BC005986,BC009057,BC021170,BC053660,CR625599,CR749867,DA998523 NP_149100,AAY24271,EAX00086,EAX00087,CAD30289,AAK13047,AAP44472,AAH00862,AAH05986,AAH53660,CAH18709,Q8TCS8 Hs.388733 DKFZp762K1914|OLD35|PNPASE|old-35 protein-coding 1354036 PNRC1 proline-rich nuclear receptor coactivator 1 1580863 7578250,15489334,15122321,14574404,12477932,11574675,10894149,10428808 10957 BC044919,CR590801,CR593282,CR595339,CR602604,CR603217,CR605107,CR607268,CR608318,CR617909,CR618392,CR624105,U03105,NM_006813,AL353135,CH471051,AF279899,AK130046,AY303779,BC018112 AAH44919,AAA85576,Q12796,Q49A59,Q7Z5N0,Q9BXV2,NP_006804,CAI16243,CAI16244,EAW48563,EAW48564,AAK07554,AAP76184,AAH18112 Hs.75969 B4-2|PNAS-145|PROL2|PRR2|RP11-63L7.5 protein-coding 1351134 PNRC2 proline-rich nuclear receptor coactivator 2 1580863 16710414,15489334,14702039,14651967,12477932,11574675,11042152,10894149,16189514 55629 Q9NPJ4 BC078177,BC085018,NM_017761,AL590609,CH471134,AF151042,AF374386,AK000319,AK024774,BC001959,BC068475 AAH78177,AAH85018,Q9NPJ4,NP_060231,CAI14802,EAW95101,EAW95102,AAF36128,AAK54613,BAA91082,AAH01959 Hs.7862,Hs.512636 FLJ20312|MGC99541 protein-coding 1320634 PODN podocan 16710414,15489334,15063725,12975309,12796502,12477932 127435 AY358294,BC024024,BC028292,BC030608,BQ719232,BX391686,NM_153703,AL445183,CH471059,AL122104,AY313607 AAQ88661,AAH28292,AAH30608,Q7Z5L7,ABM82697,ABM85881,NP_714914,CAH72591,CAH72592,EAX06756,EAX06757,EAX06758,AAP79898 Hs.708197 MGC24995|PCAN|SLRR5A protein-coding 1602677 PODNL1 podocan-like 1 12477932 79883 NM_024825,AC020916,CH471106,AK027100,AK290731,BC057786 NP_079101,EAW84381,EAW84382,EAW84383,BAB15657,BAF83420,AAH57786,Q6PEZ8 Hs.448497 FLJ23447|SLRR5B protein-coding 736843 PODXL podocalyxin-like This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. 1580863 9188463,18313397,17719804,17616675,17311105,17137615,17124010,16684343,16434482,15642748,15342556,15289306,15226400,15146197,14702039,12874460,12690205,12504081,12477932,11997330,11457882,10737800,9625756,9373149,9339384,8125298 5420 NM_005397,NM_001018111,AC008264,CH236950,CH471070,AK055816,AK223573,BC042466,BC093730,BC112035,BG006197,BP355358,BX641124,CN290641,U97519 NP_005388,NP_001018121,EAL24080,EAW83786,EAW83787,BAB71022,BAD97293,AAH93730,AAI12036,AAB61574,O00592,Q52LZ7,Q53ER6,Q96N83 Hs.16426 GDB:6306717 Gp200|MGC138240|PC|PCLP protein-coding 1347781 PODXL2 podocalyxin-like 2 1580863 10722749,17081983,15489334,12975309,12889478,12477932 50512 NM_015720,AC023593,CH471052,AF219137,AY359096,BC019330,BC052585,CR596999,CR604786,CR607317,CR618162,CR621544 NP_056535,EAW79337,EAW79338,AAF44629,AAQ89454,AAH19330,AAH52585,Q9NZ53 Hs.591290 PODLX2 protein-coding 1345780 POF1 premature ovarian failure 1 5421 GDB:120716 1351618 POF1B premature ovarian failure, 1B 16773570,15772651,15489334,15459172,14702039,12477932,11299520,9373149,8125298 79983 NM_024921,AL117325,CH471104,Z82216,AF309774,AK025039,AK025080,AK026445,AK225193,AK290360,BC017500 ABM83153,Q8WVV4,NP_079197,EAW98560,EAW98561,EAW98562,AAM93270,BAB15055,BAB15061,BAB15485,BAF83049,AAH17500,Q5H9E8 Hs.267038 FLJ22792|POF protein-coding 1348314 POFUT1 protein O-fucosyltransferase 1 This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 1580863 11698403,9023546,11524432,15653671,15489334,12697902,12477932,12168954,12036964,11780052,9525914,8724849 23509 NM_015352,NM_172236,AL121897,CH471077,AF375884,AK291033,AL832023,BC000582,BC017669,CR617950,D80002 NP_056167,NP_758436,CAC16424,CAH73300,EAW76383,EAW76384,EAW76385,AAL09576,BAF83722,AAH00582,BAA11497,Q5W185,Q9H488 Hs.472409 GDB:9785059 FUT12|KIAA0180|MGC2482|O-FUT|O-Fuc-T|O-FucT-1 protein-coding 1316469 POFUT2 protein O-fucosyltransferase 2 Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM] 1580863 16464858,16464857,15489334,15233996,15146197,12966037,12477932,10830953,10231032 23275 NM_015227,NM_133635,NM_133634,NR_004858,AL163301,BX322557,CH471079,AB023175,AJ302079,AJ302080,AJ575591,AK290732,AL110285,AY066015,BC000626,BC011044,BC064623,BI560842,BI669244,CA425603,CN429387,CR621084 NP_056042,NP_598368,NP_598367,CAB90496,EAX09350,EAX09351,EAX09352,EAX09353,EAX09354,CAC24556,CAC24557,CAE01472,BAF83421,CAB53715,AAL47681,AAH11044,AAH64623,Q9Y2G5,BAA76802 Hs.592164 C21orf80|FUT13 protein-coding 1319023 POGK pogo transposable element with KRAB domain The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. 10509013,16964243,14702039,12477932,10819331,9110174,8619474 57645 NM_017542,AL008639,CH471067,AB040946,AF111706,AF131746,AF139898,AK027079,AK056711,AK093951,BC016390,BC131624 NP_060012,CAI23579,CAI23580,EAW90775,EAW90776,EAW90777,BAA96037,AAM12422,AAD20031,AAD50079,AAI31625,O95880,Q5TIJ1,Q5TIJ2,Q9P215 Hs.432752 GDB:11510190 BASS2|KIAA1513|KIAA15131|LST003 protein-coding 1320615 POGZ pogo transposable element with ZNF domain The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 10976766,17081983,16710414,16381901,15489336,15489334,15302935,12880961,12477932,11230166,11076863,9455484 23126 NM_015100,NM_145796,AL589764,CH471121,AB007930,AB037911,AB075477,AJ242979,NM_207171,AK000199,AW167360,BC042018,BC057773,BX537561,BX537838,BX649163,CR601169,CR605563,CR619323 NP_997054,NP_055915,NP_665739,CAI16807,CAI16808,CAI16809,CAI16810,CAO72143,CAO72144,EAW53436,EAW53437,EAW53438,EAW53439,EAW53440,EAW53441,BAA32306,BAB87117,BAE45744,CAB45136,AAH57773,CAD97850,Q0JUL4,Q7Z3K3,CAL37797,AAI66671 Hs.709323 GDB:9955023 KIAA0461|MGC71543|SUHW5|ZNF280E|ZNF635|ZNF635m protein-coding 732365 POLA1 polymerase (DNA directed), alpha 1 1580863 16762037,3359994,2175912,893425,4084590,3139084,1311258,2243771,9395244,9518481,10518787,10869558,16438930,3335506,1508673,1730053,11470886,7910375,9815285,1903085,6693436,9822671,11473323,7045121,17761813,17699597,17209555,16935576,15615704,14499601,12950174,12665598,12546699,12393188,12220650,12181327,11968016,11917009,11259605,10877824,9563011,9039979,8760400,8226963,8223465,7504813,7085672,3820307,3490907,2410918,2005899,1848671 5422 CH471074,M64481,BU508486,BX648513,CR625340,DW462890,X06745,NM_016937,AC002504,AC004655,AC079375,AC135280,AY275833 EAW99028,AAA52318,CAA29920,P09884,NP_058633,AAP13534 Hs.567319 GDB:120304 DKFZp686K1672|POLA dna polymerase alpha subunit i protein-coding 731623 POLA2 polymerase (DNA directed), alpha 2 (70kD subunit) 1580863 15231747,8223465,6693436,9822671,11473323,16964243,16169070,15489334,15302935,14702039,12546699,12477932,12181327,11433027,1902230,9705292,16189514,9518481 23649 NM_002689,AP000944,CH471076,AK025315,AK094569,BC001347,BC002990,BC018813,BC018814,CR456737,CR600071,CR605096,L24559 NP_002680,EAW74373,AAH01347,AAH02990,CAG33018,AAA16459,Q14181,ABM82949,ABM86141 Hs.201897 FLJ21662|FLJ37250 dna polymerase alpha subunit ii protein-coding 736608 POLB polymerase (DNA directed), beta In eukaryotic cells, DNA polymerase beta (POLB) performs base excision repair (BER) required for DNA maintenance, replication, recombination, and drug resistance. Also see POLA (MIM 312040).[supplied by OMIM] 1580863 8978692,11250913,8168825,15725623,15520167,9207062,10559261,18313385,18270339,18161950,18039710,18006695,17855454,17526740,17355977,17321545,17286973,17283177,17230526,17209556,17203305,17176113,17131038,17127106,17065437,16609022,16195237,16188889,16169070,16060670,15963946,15764500,15753095,15731342,15601998,15561706,15548520,15489334,15314187,15145936,14627836,14506279,12665521,12517346,12477932,12453427,12370169,12196536,12173936,12067997,12063248,11955015,11923315,11912205,11827474,11805079,11756435,11467963,11242139,9572863,9373149,9294209,9287163,8841120,8841119,8841118,8769567,8125298,7914364,7705833,3284575,3182828,2460824,2423078,2040602,1511447,1408801,15260972,15107487 5423 NM_002690,AC083973,AC107885,AF491812,CH471080,J04201,S82473,U10526,X68633,AK223537,BC100288,BC106909,CR536503,CR541802,CR623008,CR624336,D29013,L11607,M13140 NP_002681,AAL91594,EAW63221,AAA60134,AAB37518,AAB60688,CAA48603,BAD97257,AAI00289,AAI06910,CAG38741,CAG46601,BAA06099,AAB59441,AAA60133,P06746,Q53EV2,Q6LBJ9,Q9BQF2 Hs.654484 GDB:120305 MGC125976 dna polymerase beta protein-coding 734076 POLD1 polymerase (DNA directed), delta 1, catalytic subunit 125kDa The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1, POLD2 (MIM 600815), POLD3 (MIM 611415), and POLD4 (MIM 611525) (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 1580863,737798,1358139 10559261,11473323,18270339,17203305,16934752,15489334,15113441,14767555,12806015,12477932,12403614,12393188,12220650,12171929,11923315,10852724,9620226,9563011,9545286,9286699,2436659,1722322,1542570,1427831,17353931,10608806,16189514,16762037,15670210,3335506,1730053,9111189,3146346 737798 5424 NM_002691,AC008655,AC020909,AY129569,CH471135,AB209560,BC008800,BM193218,CR597968,DQ234348,M80397,M81735 NP_002682,AAM76971,EAW71856,EAW71857,BAD92797,AAH08800,ABB29977,AAA58439,AAA35768,P28340,Q308M6,Q59FA0,ABM86879,ABW03832 Hs.279413 GDB:129089 CDC2|POLD dna polymerase delta, catalytic subunit protein-coding 1312693 POLD2 polymerase (DNA directed), delta 2, regulatory subunit 50kDa The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1 (MIM 174761), POLD2, POLD3 (MIM 611415), and POLD4 (MIM 611525) (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 1580863 15670210,8530069,9111189,10559261,11473323,16934752,16344560,15489334,15231747,12690205,12522211,12477932,12171929,11986310,11593007,11027336,10978529,10852724,10811112,9286699,16189514 5425 CR615173,CR615633,CR617641,CR619876,CR620131,CR620259,CR622996,CR623270,CR623749,U21090,CR610527,NM_006230,NM_001127218,AC006454,AF239710,AY116646,CH236960,CH471128,AK292347,AK312294,AU117477,BC000459,BC030001,CR590132,CR592373,CR595771,CR595850,CR596391,CR597999,CR599106,CR599360,CR603674,CR608121,CR608493 AAC50216,P49005,ABM82925,ABM86115,NP_006221,NP_001120690,AAG09763,AAM51148,EAL23767,EAW61118,BAF85036,BAG35221,AAH00459 Hs.306791 GDB:579578 protein-coding 1323795 POLD3 polymerase (DNA-directed), delta 3, accessory subunit The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1 (MIM 174761), POLD2 (MIM 600815), POLD3, and POLD4 (MIM 611525) (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 1580863 10219083,7910606,9099749,9111189,10559261,11473323,18157942,17932049,17081983,16935576,16934752,16000169,12477932,12171929,11595739,10852724,7584028,7584026 10714 NM_006591,AP001104,AP001324,CH471076,BC020587,BC032636,BC041703,BC058840,BC092454,BC108908,BC108909,CR604252,D26018 NP_006582,EAW74942,EAW74943,AAH20587,AAH32636,AAH92454,AAI08909,AAI08910,BAA05039,Q05BV7,Q15054,Q32MZ9,Q32N00,Q569I8,Q8WUF6 Hs.82502 KIAA0039|MGC119642|MGC119643|P66|P68 protein-coding 1318336 POLD4 polymerase (DNA-directed), delta 4 The DNA polymerase delta complex is involved in DNA replication and repair, and it consists of the proliferating cell nuclear antigen (PCNA; MIM 176740), the multisubunit replication factor C (see MIM 102579), and the 4 subunit polymerase complex: POLD1 (MIM 174761), POLD2 (MIM 600815), POLD3 (MIM 611415), and POLD4 (Liu and Warbrick, 2006 [PubMed 16934752]).[supplied by OMIM] 1580863 10751307,15670210,9111189,10559261,11473323,16934752,16510448,12477932 57804 NM_021173,AP003419,AY928482,CH471076,AB209274,AF179890,BC001334,BC070250,CR595645,CR612376,CR624432 NP_066996,AAX09676,EAW74598,EAW74599,EAW74600,BAD92511,AAG08966,AAH01334,AAH70250,Q59G35,Q6NSD7,Q9BVB1,Q9HCU8 Hs.523829 GDB:11502994 POLDS|p12 protein-coding 1315967 POLDIP2 polymerase (DNA-directed), delta interacting protein 2 This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. The encoded protein also interacts with proliferating cell nuclear antigen. Some transcripts of this gene overlap in a tail-to-tail orientation with the gene for tumor necrosis factor, alpha-induced protein 1 (TNFAIP1). 11256614,11076863,11042152,16189514,17623671,16381901,16169070,15811854,15489336,15489334,12522211,12477932 26073 AC002094,CH471159,AF077203,AF179891,AL110156,BC000655,BC009265,BC018864,BU932070,CA417611,CR597690,CR597774,CR598987,CR599702,CR607559,CR613502,NM_015584,CR618590,DB455962 NP_056399,EAW51078,AAD26998,AAK92018,CAB53663,AAH00655,AAH09265,Q0JU21,Q9UG21,Q9Y2S7,CAL37990 Hs.241543 DKFZP586F1524|PDIP38|POLD4 protein-coding 1322337 POLDIP3 polymerase (DNA-directed), delta interacting protein 3 This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit. This protein is a specific target of S6 kinase 1 and regulates cell growth. Two transcript variants that encode different protein isoforms have been identified. 18423201,16984396,15635413,15489334,15461802,15341740,12529303,12522211,10591208,16189514,12477932,11258795 84271 NM_178136,NM_032311,AY422990,CH471138,Z93241,AB055760,AK024626,AK291623,AK291774,AL080227,AL137743,AL160111,AL160112,AY506562,BC001488,BC007397,BC019643,BC049840,BC056912,BC095411,BE268664,CR456456,CR590566,CR599222,CR612885,CR615966,CR626302,DQ887818 NP_835237,NP_115687,AAQ94604,EAW73264,EAW73265,EAW73266,EAW73267,CAI19835,BAB33368,BAF84312,BAF84463,CAH56378,CAB77058,CAB77059,AAR91612,AAH01488,AAH19643,AAH49840,AAH56912,AAH95411,CAG30342,ABI74675,Q009A7,Q659C6,Q6R954,Q8WUT1,Q96DI9,Q9BY77,CAK54437,CAK54736 Hs.505802 KIAA1649|PDIP46|SKAR protein-coding 1348983 POLE polymerase (DNA directed), epsilon 1580863 16762037,14667819,1730053,9111189,6693436,12045100,17855454,14702039,14671302,14500819,12477932,12171929,11741962,11395493,10801849,10673506,10215605,9563011,9121429,8639508,8486689,8020968,17353931 5426 NM_006231,AC131212,AC135586,AF127975,AY273166,AY405840,CH471218,AF128541,AF128542,AF128544,AK025087,AK093003,AK128248,AL080203,BC007599,BC011376,BC021559,BC087613,BX647647,L09561,S60080,U49356 NP_006222,AAD44690,AAD44691,AAD44692,AAP12650,EAW54830,EAW54831,EAW54832,EAW54833,EAW54834,AAD45662,AAD45663,BAB15063,CAB45774,AAH07599,AAH21559,AAH87613,AAC19148,AAA15448,AAA90924,Q07864,Q59EA9,Q8WU23,Q96IE1,Q9H736,Q9UNE8,Q9UNE9,Q9UNF3,Q9Y4M6,Q9Y5S4,Q9Y5S5 Hs.524871,Hs.657680 GDB:129548 DKFZp434F222|FLJ21434|POLE1 protein-coding 1323687 POLE2 polymerase (DNA directed), epsilon 2 (p59 subunit) 1580863 9405441,9111189,6693436,12045100,16169070,15489334,12477932,11872158,11433027,10801849,9443964,14500819 5427 NM_002692,AF387034,AL139099,AL591767,CH471078,AF025840,AF036899,BC112962,BC126218,BC126220,BX248064,CR615139,CR624379 NP_002683,AAK72254,EAW65754,AAC51920,AAC39610,AAI12963,AAI26219,AAI26221,CAD62358,P56282,Q86SY9 Hs.162777 GDB:9863221 DPE2 protein-coding 1344068 POLE3 polymerase (DNA directed), epsilon 3 (p17 subunit) POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM] 1580863 10801849,17081983,15489334,15164053,14702039,12477932,11000277,10880450,9110174,8619474,14500819,16189514 54107 NM_017443,AF261689,AL137066,CH471090,CQ783655,DQ072116,AF070640,AF226077,AK074629,AK074762,AK074782,AK092840,AK096050,AY720898,BC003166,BC004170,CR611643,CR618752 NP_059139,AAF90133,CAH70100,EAW87381,EAW87382,CAF86796,AAY57326,AAF72417,BAC11099,BAC11190,BAC11206,AAU15052,AAH03166,AAH04170,Q9NRF9 Hs.108112 GDB:11502998 CHARAC17|CHRAC17|YBL1|p17 protein-coding 1317190 POLE4 polymerase (DNA-directed), epsilon 4 (p12 subunit) POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM] 1580863 10801849,15815621,15489334,12477932,14500819 56655 NM_019896,AC007400,AF261688,CH471053,AI815728,BC031331,BU597500,CA454961,CF529348 NP_063949,AAY15030,AAF90132,EAW99597,EAW99598,EAW99599,AAH31331,Q9NR33 Hs.469060 GDB:11508994 p12 protein-coding 732179 POLG polymerase (DNA directed), gamma Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. 1580900,737726,1580863 18270339,18238797,18195151,18062861,17894835,17846414,17725985,17711845,17436221,17426723,17420318,17339235,17310215,17300808,17209437,17088268,17005554,17005553,16987890,16970152,16957900,16943369,16929381,16896309,16682683,16639411,16595552,16574152,16553026,16545482,16490220,16487403,16464011,16401742,16392637,16327803,16181814,16130100,16080118,16024923,15981013,15929042,15824347,15694274,15650046,15534189,15489334,15477547,15356024,15351195,15349879,15181541,15181170,15122711,14745080,14729924,14694057,14688158,12975295,12872260,12857740,12825077,12707443,12686611,12645575,12565911,12477932,12210792,18316366,12144777,12036482,11897778,11756592,11687794,11431686,10827171,9742236,9465903,9119411,9034326,3619920,15164064,15177179,16263719,8884268 1580900,737726 5428 NM_002693,NM_001126131,AC124068,AF497906,AY377897,CH471101,DQ285412,DQ285413,U74651,AK130624,AK291281,AL110092,AW015913,BC042571,BC050559,D84103,U60325,X98093 NP_002684,NP_001119603,AAM77583,AAR32994,EAX02045,EAX02046,EAX02047,ABB89206,ABB89207,AAB18268,BAF83970,AAH42571,AAH50559,BAA12223,AAC50712,CAA66719,P54098,Q2V8X9,Q2V8Y0,Q6JLA7,Q6LCA9 Hs.706868 GDB:129547 FLJ27114|MDP1|PEO|POLG1|POLGA|SANDO|SCAE dna polymerase gamma protein-coding 1312978 POLG2 polymerase (DNA directed), gamma 2, accessory subunit The accuracy of mitochondrial DNA (mtDNA) replication depends on the coordinated action of many nuclear-encoded proteins and on the correct balance of nucleotides within the mitochondrial matrix. mtDNA is replicated by DNA polymerase gamma, which is composed of a 140-kD catalytic subunit (POLG1; MIM 174763) and a 55-kD accessory subunit (POLG2).[supplied by OMIM] 1580863 16263719,10608893,9153213,17494052,16697732,16685652,12477932,12379656,10677218,10666468 11232 NM_007215,AC138744,CH471109,AF142992,AF177201,AF184344,BC000913,BC009194,BI826587,CR617858,U94703 NP_009146,EAW94204,AAD50382,AAD56640,AAD56542,AAH00913,AAH09194,AAC51321,Q9UHN1 Hs.437009 GDB:9958867 HP55|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB protein-coding 1320482 POLH polymerase (DNA directed), eta This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. 1580863 10398605,10871396,10385124,18068156,17344931,17334634,17081983,16823845,16763556,16710452,16449651,16357261,16116089,16061253,15758026,15569147,15489334,15380106,15189446,15149598,15147214,15051760,14999287,14760703,14734526,14702039,14630940,14585988,14574404,14523013,12644471,12644469,12606586,12584190,12509472,12477932,16675950,12426396,12244178,11994004,11821420,11773631,11756691,11743006,11585903,11554790,11376341,11121129,11032022,10856253,16189514 5429 AK122807,BC015742,DC416114,NM_006502,AB038008,AL353602,AL355802,AY388614,CH471081,AB024313,AF158185,AJ420484,AK023893,AK025631 AAH15742,Q5JTF2,Q9Y253,NP_006493,BAB18601,CAI12786,CAI12787,CAI42641,CAI42642,CAI42643,AAQ81300,EAX04209,EAX04210,EAX04211,EAX04212,BAA81666,AAD43810 Hs.655467 GDB:6963323 FLJ16395|FLJ21978|RAD30|RAD30A|XP-V|XPV protein-coding 1313103 POLI polymerase (DNA directed) iota 10458907,11256614,18270339,18194848,17609217,17056006,16914729,16763556,16527824,16472831,16381901,16357261,16354708,16344560,16195237,16189514,16166652,15657443,15609317,15489336,15489334,15342632,15313897,15254543,15231748,15199127,15189446,14702039,14701763,14630940,12777390,12606586,12477932,12466554,12426396,12410315,11707422,11515498,11402031,11387224,11356150,11251121,11230166,11205331,11076863,11013228,10887158,10856253 11201 NM_007195,AC093462,AY094607,CH471096,AF140501,AF245438,AK093688,AK226057,AL136670,BC032617,BC032662,BM993293,BX649100,CR607269,DA315805,DB450447 NP_009126,AAM11872,EAW63000,EAW63001,AAD50381,AAF63383,CAB66605,AAH32662,Q0JUF5,Q9UNA4,CAL37856,ABM81819,ABM87810 Hs.438533 GDB:9957374 RAD30B|RAD3OB protein-coding 1343998 POLK polymerase (DNA directed) kappa 1580863 12477932,10620008,18079151,17494052,17317631,17099721,16751196,16611994,16354708,16055723,15989980,15938713,15817457,15661663,15601657,15533436,15489334,15296733,15199127,15189446,15147214,14702039,14630940,12952891,10887153,10760255,10518552,12444249,12145297,11994005,12414988,11842189,11784855,11024016 51426 NM_016218,AB036934,AB036935,AC010245,AC026424,AC116341,AY273797,CH471084,AB027564,AB209291,AF163570,AF194973,AF315602,AF318313,AK026316,AK091659,AY769929,AY769930,AY769931,AY769932,BC014955,BC041798,BC050718 NP_057302,BAB58975,BAB58976,AAP12648,EAW95762,EAW95763,EAW95764,EAW95765,BAA86943,BAD92528,AAF02540,AAF23270,AAN15780,AAN15781,BAC03714,AAV80827,AAV80828,AAV80829,AAV80830,AAH14955,AAH50718,Q59G18,Q5Q9G5,Q5Q9G6,Q5Q9G7,Q5Q9G8,Q9UBT6 Hs.135756 GDB:11504666 DINB1|DINP|POLQ protein-coding 1317600 POLL polymerase (DNA directed), lambda 1580863 10982892,17686665,17666409,17653665,17321545,17005572,16807316,16675458,16522650,16189514,16174846,15979954,15164054,15157109,14992725,14702039,14657033,14627824,14561766,12911298,12829698,12809503,12683997,12477932,12368291,12081642,11974915,11821417,11784855,11457865,10966791,10887191,15665310,15608652,15537631,15489334,15358682,15350147,15202001 27343 AF525924,AL627424,CH471066,NM_013274,AF161019,AF218027,AF283478,AJ131890,AJ844641,AJ844642,AK021600,AK022476,AK127896,AK292225,AL702021,AY302442,BC003548,BC068529,CR615868,CR619817 NP_037406,AAM77696,CAI41028,CAI41029,CAI41030,CAI41031,CAI41032,CAI41033,CAI41034,CAI41035,CAI41036,CAI41037,CAI41038,EAW49757,EAW49758,EAW49759,EAW49760,EAW49761,EAW49762,EAW49763,EAW49764,EAW49765,EAW49766,EAW49767,EAW49768,AAF27541,AAG17269,AAG22519,CAB65074,CAH59753,CAH59754,BAB13852,BAB14050,BAF84914,AAQ74388,AAH03548,AAH68529,Q5JQN9,Q5JQP0,Q5JQP1,Q5JQP4,Q5JQP2,Q5JQP8,Q5JQP3,Q5QJV5,Q5ZEY5,Q5ZEY6,Q9BTN8,Q9HAJ3,Q9HBN3,Q9UGP5 Hs.523230 GDB:10796049 BETA-N|FLJ46002|POL-KAPPA protein-coding 1317912 POLM polymerase (DNA directed), mu 1580863 16963491,16061182,15520469,15504045,15199127,14702039,14581466,12640116,12477932,12368208,12228225,12077346,11974916,11972346,11724965,10982892,10747040 27434 NM_013284,AC017116,AY899911,CH236960,CH471128,AF176097,AJ131891,AK023002,AK092903,AK291638,BC026306,BC035685,BC049202,BC062590,CR606869,CR620839 NP_037416,AAW65376,EAW61120,EAW61121,EAW61122,EAW61123,EAW61124,EAW61125,EAW61126,EAW61127,AAF26284,CAB65075,BAB14353,BAF84327,AAH26306,AAH49202,AAH62590,Q6P5X8,Q6PIY2,Q86WQ9,Q9H980,Q9NP87 Hs.596982 GDB:10796051 Tdt-N protein-coding 1354283 POLN polymerase (DNA directed) nu 1580863 17118716,14702039,12794064 353497 NM_181808,AL136360,AL158068,CH471131,DQ060036,AF044578,AK131239,AL122048,AY136549,BX509164 NP_861524,CAM20461,EAW82538,EAW82539,AAY43130,AAD02338,BAD18421,AAN52116,O95165,Q7Z5Q5,AAI46298,AAI56717,AAI56872 Hs.368454,Hs.708720 POL4P protein-coding 1320324 POLQ polymerase (DNA directed), theta 1580863 17353931,10395804,18270339,17150533,16835218,16824193,16603639,16520097,16222339,16188888,15496986,15342556,14735462,14576298,12051913,7829101 10721 NM_199420,AC069239,AC079841,CH471052,AA767021,AB209867,AF043628,AF052573,AF090919,AW021928,AY032677,AY338826,BC034254,BP365212,CR936627 NP_955452,EAW79510,EAW79511,EAW79512,EAW79513,EAW79514,BAD93104,AAD05272,AAF24036,AAK39635,AAR08421,CAI56770,O75417,Q59EE4,Q5CZ96,Q6VMB5,Q96SE4,Q9UI68,AAC33565 Hs.241517 GDB:9958211 DKFZp781A0112|POLH|PRO0327 protein-coding 1345694 POLR1A polymerase (RNA) I polypeptide A, 194kDa 1580863 9582279,16514417,12393749,12646563,15342556,14743216,12477932,12446911,9236775,11250903,15226435,9285060,10567578 25885 AC009309,AC012511,CH471053,AK025568,AL117467,BC017115,BC073968,BC117173,BC126303,NM_015425,BP363163,CR594845,U33460,U33823 NP_056240,AAY24277,EAW99467,EAW99468,EAW99469,BAB15171,CAB55942,AAH17115,AAH73968,AAI17174,AAI26304,AAC99959,O95602,Q0VG05,Q53T12,Q6GMQ2,Q96AG9,Q9H6T2,AAD09356 Hs.531818 DKFZP586M0122|FLJ21915|MGC87965|RPA1|RPO1-4 protein-coding 1348858 POLR1B polymerase (RNA) I polypeptide B, 128kDa Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM] 1580863 16514417,9582279,12393749,12646563,18194663,17499043,16880508,16055704,15815621,15226435,14743216,14702039,12477932,11981034,11953755,11592397,11250903,9254723,8921381,15558034 84172 NM_019014,AC012442,CH471217,AK001678,AK022533,AK022890,AK025574,AK128044,BC004882,BC073857,BC096748,BC110833,BC150139,BX647360,BX647683,CR615325 Q9NVC2,NP_061887,AAX81999,EAW73590,EAW73591,EAW73592,EAW73593,BAA91831,BAB14082,BAB14296,BAB15175,BAC87247,AAH04882,AAH73857,AAH96748,AAI10834,Q2TAM4,Q4QRK8,Q6DKI9,Q9BSR4,Q9H6S8,Q9H9Y6 Hs.86337 FLJ10816|FLJ21921|MGC131780|RPA135|RPA2|Rpo1-2 protein-coding 1320170 POLR1C polymerase (RNA) I polypeptide C, 30kDa 9540830,9582279,12393749,12646563,16189514,15635413,15592455,15489334,14743216,14574404,12477932,12446911,12391170,11971179,11790298,11042152,9653160,9254723,8955128,17353931,15226435 9533 NM_004875,NM_203290,AL355802,CH471081,AF008442,AF047441,BC008118,BC008863,BM828768,BQ575535,CR594415,CR602912,CR610719,CR613447,CR613677 NP_004866,NP_976035,CAI42627,CAI42628,CAI42629,CAI42630,CAI42631,CAI42632,CAI42633,EAX04204,EAX04205,EAX04208,AAC14354,AAC39892,AAH08118,AAH08863,O15160,Q5JTE0,Q5JTE4,Q96HT3 Hs.584839 RP3-337H4.4|RPA39|RPA40|RPA5|RPAC1 protein-coding 1343756 POLR1D polymerase (RNA) I polypeptide D, 16kDa 1580863 9582279,12393749,12646563,16189514,15635413,15489334,15057823,14743216,14702039,12477932,12446911,12391170,11042152,8955128,15226435 51082 NM_152705,NM_015972,AL136439,CH471075,AF077044,AK000623,AK097973,BC000889,BC006972,BC015319,BC018528,BC054519,CR597733,CR601824,CR607937,CR619253,CR620465 NP_689918,NP_057056,CAI16933,CAI16934,EAX08415,EAX08416,AAD27777,AAH00889,AAH06972,AAH15319,AAH18528,Q7Z776,Q96BR3,Q9Y2S0 Hs.507584 FLJ20616|MGC9850|POLR1C|RPA16|RPA9|RPAC2|RPO1-3 protein-coding 1602318 POLR1E polymerase (RNA) I polypeptide E, 53kDa 16514417,17353931,15489334,15226435,15164053,14743216,14702039,14627545,14613906,14585813,12477932,12429849,11698641,9373149,9254723,8641287,8125298 64425 NM_022490,AL158156,CH471071,AK023452,AK024032,AK091294,AK225050,BC001337,BC014331,BC017766,CR457313,CR592070,CR598021,CR611501,CR612093,CR615159,CR619318,CR620462 NP_071935,EAW58280,EAW58281,BAB14579,BAB14791,BAC03629,AAH01337,AAH14331,CAG33594,Q9GZS1 Hs.591087 FLJ13390|FLJ13970|PAF53|PRAF1|RP11-405L18.3 protein-coding 1352013 POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. 1580863 7622068,3145407,10075709,10944529,14992727,9405375,12226669,8946909,2999107,16109376,1939271,2449431,9409616,9512541,9790902,12676794,18342606,18294453,18079404,18079403,18032511,17584298,17525170,17098194,17028590,16949370,16344560,16314571,16246722,16210313,10725406,10704353,10698937,10620016,10617616,10574912,10567706,10545121,10536359,10454562,10454543,10438593,10393805,10393184,10373521,10364292,10359081,10329125,10199401,10069959,10066804,9874563,9765293,9765201,9710619,9705270,9696809,9671816,9651670,9632813,9570510,9491887,9450929,9443979,9372911,9346935,9334327,9315662,9312053,9311822,9268387,9201987,9184228,9159119,9153302,9121429,9054383,9002523,8934526,8910388,8889548,8876177,8849451,8800208,8700889,8700522,8676484,8637904,8034326,7853496,7638159,7533294,6200476,4506230,3860504,2190099,1559613,16118227,10958691,10932246,10931842,10908677,10866664,10784442,10773068,10757782,10737800,1542581,1487824,435297,12775419,12089333,17168834,16838299,16289656,11238380,8895581,9845365,14506230,12955082,11504724,12660246,12612062,12665589,14576433,15175163,15235609,14578343,16009131,12588988,15546612,15808510,15829968,15502823,15565158,15494311,12036313,16086846,15886201,15640154,15592455,15570572,15542435,15302935,15144186,15099517,14963322,14701755,14684736,14612417,14569024,14536091,12914699,12887902,12721286,12642036,12634356,12579324,12565871,12560496,12477932,12435728,12391174,12381297,12379213,12376575,12358429,12234934,12221105,12200141,12168660,12154023,12145330,12126615,12114499,12062018,12054881,12052871,12049628,11940650,11809800,11683387,11575923,11547919,11459828,11313019,11149922,11112772,11080476,10983978 5430 NM_000937,AC113189,CH471108,X59443,X74870,X74871,X74872,X74873,X74874,BC067295,BQ891728,BU739765,CV355924,DA923649,M21610,X63564 NP_000928,EAW90181,EAW90182,EAW90183,CAA52862,AAH67295,AAA60135,CAA45125,P24928,Q15161,Q6NX41 Hs.270017 GDB:120306 MGC75453|POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1 protein-coding 1319837 POLR2B polymerase (RNA) II (DNA directed) polypeptide B, 140kDa This gene encodes the second largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with at least two other polymerase subunits, forms a structure within the polymerase that maintains contact in the active site of the enzyme between the DNA template and the newly synthesized RNA. 1580863 2449431,9409616,9512541,9790902,12676794,18270511,17584298,17583472,17499043,17494052,15886393,15670829,15489334,15282305,14992727,14569024,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12050112,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,1518060,17353931,9405375,12226669,8946909,1939271,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9110174,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,8619474,8034326,7853496,7638159,2320128,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163 5431 AAB23139 NM_000938,AC069307,CH471057,AF055028,AK289823,BC023503,BC046499,CR591583,CR592056,CR609388,X63563 NP_000929,EAX05519,AAC09367,BAF82512,AAH23503,CAA45124,AAB23139,P30876 Hs.602757 GDB:135034 POL2RB|RPB2|hRPB140|hsRPB2 protein-coding 1315832 POLR2C polymerase (RNA) II (DNA directed) polypeptide C, 33kDa This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. 1580863 9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,8034326,7853496,7638159,2190099,2187864,1559613,12775419,12089333,17168834,16838299,16289656,15175163,16141233,16189514,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16455777,16169070,15489334,15282305,14569024,12887902,12860379,12642036,12634356,12477932,12379213,12221105,12207009,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10777215,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10493829,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9607318,9570510,9540830,9491887,9488465,9334327,9315662,9311822,9201987 5432 NM_032940,AC004382,AC009052,CH471092,AF008443,AJ224143,AJ224144,AK293112,BC000409,BC003159,BC028157,CR542041,CR594917,CR599625,CR600258,CR600374,CR606923,CR615542,CR615834,CR620330,CR620622,CR626527,J05448,BI458170 NP_116558,AAC24309,EAW82926,EAW82927,EAW82929,EAW82930,AAC14355,CAA11842,CAA11843,BAF85801,AAH00409,AAH03159,AAH28157,CAG46838,AAA36586,P19387,Q6FGR6,ABM82337,ABM85512,ABW03756 Hs.79402 GDB:250741 RPB3|RPB31|hRPB33|hsRPB3 protein-coding 1348749 POLR2CP polymerase (RNA) II (DNA directed) polypeptide C, pseudogene 10830953 54038 NG_000915,AF127936 GDB:10796398 pseudo 1318411 POLR2D polymerase (RNA) II (DNA directed) polypeptide D This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. 1580863 10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163,15893730,9528765,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16282592,15489334,14569024,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10777215,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959 5433 NM_004805,AC006011,AC012306,CH471103,U89387,BC002958,BC010427,BC017205,BC093795,BC093797,CR597179,U85510 NP_004796,AAX82034,AAY14877,EAW95344,EAW95345,AAC52056,AAH10427,AAH17205,AAH93795,AAH93797,AAC80226,O15514,Q53T47,Q587J0,Q96FU3 Hs.708111 GDB:250742 HSRBP4|HSRPB4|RBP4 protein-coding 1313437 POLR2E polymerase (RNA) II (DNA directed) polypeptide E, 25kDa This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. 1580863 9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,8034326,7853496,7638159,2753903,2190099,2071613,1559613,12775419,12089333,17168834,16838299,16289656,15175163,14743216,15489334,15057824,14702039,14615539,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11790298,11547919,11278533,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,7828586,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16169872,15635413,9315662,9311822,9201987,9184228,9121429,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,10698937,9696809,9651670,9570510,9491887,9488465,9334327 5434 NM_002695,AC004151,CH471139,AK122813,BC004441,BC034144,D38251,DC414435,J04965,S42643 NP_002686,AAC03238,EAW69547,EAW69548,EAW69549,EAW69550,AAH04441,AAH34144,BAA07406,AAA62401,AAB19339,P19388 Hs.24301 GDB:250743 RPABC1|RPB5|XAP4|hRPB25|hsRPB5 protein-coding 734063 POLR2F polymerase (RNA) II (DNA directed) polypeptide F This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes, that is also shared by the other two DNA-directed RNA polymerases. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. 1300048 10438593,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,15489334,15461802,14702039,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10623476,10617616,10591208,10545121,10542096,10536359,10393248,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8786150,8676484,8637904,7853496,7803819,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163 5435 NM_021974,AF006501,AL031587,CH471095,Z27113,AK094034,BC003582,CR456546,CR457021,CR608980 NP_068809,CAB62981,EAW60202,EAW60203,CAA81629,AAH03582,CAG30432,CAG33302,P61218,Q6IAY3,CAK54577,CAK54876 Hs.436578 GDB:250746 HRBP14.4|RPABC2|RPB6|hRPB14.4|hsRPB6 protein-coding 733856 POLR2G polymerase (RNA) II (DNA directed) polypeptide G This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, the association of this subunit with the polymerase under suboptimal growth conditions indicates it may play a role in regulating polymerase function. 1300048 9765201,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10777215,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,14667819,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,17848138,16327806,16282592,15489334,14569024,12912922,12887902,12642036,12634356,12477932,12379213,12221105,12126615,9704926,9696809,9651670,9570510,9528765,9491887,9488465,9334327,9315662,9311822,9256063,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7638159,7579693,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163 5436 NM_002696,AP001160,CH471076,U52427,BC112162,BC112164,CR596896,CR607005,U20659 NP_002687,EAW74090,EAW74091,EAW74092,AAB96827,AAI12163,AAI12165,AAA86500,P62487 Hs.14839 GDB:250747 MGC138367|MGC138369|RPB7|hRPB19|hsRPB7 polymerase (rna) ii (dna directed)polypeptide g protein-coding 1314889 POLR2H polymerase (RNA) II (DNA directed) polypeptide H This gene encodes one of the essential subunits of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. 1580863 17353931,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9582279,9790902,12393749,12646563,12676794,16632472,15635413,15489334,14743216,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11790298,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,15175163,10777215,8800208,8676484,8637904,8524256,7853496,7651387,7638159,3754875,2190099,1559613,1403646,12775419,12089333,17168834,16838299 5437 NM_006232,AC078797,AJ252079,AJ252080,CH471052,BC000739,CR590527,CR596627,CR621736,U37689,Z49199 NP_006223,CAB92189,EAW78246,EAW78247,AAH00739,AAA91458,CAA89060,P52434,ABZ92526 Hs.432574 GDB:250748 RPABC3|RPB17|RPB8|hsRPB8 protein-coding 1319717 POLR2I polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. 1580863 8265347,9405375,12226669,8946909,1939271,2449431,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9184228,9121429,9054383,8934526,8910388,9409616,9512541,9790902,12676794,15489334,15057824,14569024,12887902,12642036,12634356,12477932,12379213,12221105,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,10704353,10698937,8876177,8849451,8800208,8676484,8637904,8034326,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163 5438 NM_006233,AD001527,Z23102,BC017112,BC017860,BC067794 NP_006224,AAB51181,CAA80649,AAH17112,AAH67794,P36954,ABM84140,ABM87542 Hs.47062 GDB:250749 RPB9|hRPB14.5 protein-coding 1320957 POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. 1580863 8797801,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16341674,15586814,15489334,14569024,12887902,12853948,12642036,12634356,12477932,12221105,12126615,12114499,12052871,12049628,12036295,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10783144,10757782,10725406,10704353,10698937,10617616,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9607318,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,12379213,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,16289656,15175163 5439 X98433,BC024165,BC040116,BC065711,BC139902,BC141830,BM545237,BM791979,L37127,X82385,NM_006234,AC093668,AJ277928,AJ277929,AJ277930,AJ277932,AK290515 CAA67075,P52435,Q9H1A6,ABM84077,ABM87445,CAA57785,BAF83204,AAH24165,AAH65711,AAI39903,AAI41831,AAD05361,NP_006225,CAC18368 Hs.654952 GDB:250750 MGC71910|POLR2J1|RPB11|RPB11A|RPB11m|hRPB14 protein-coding 1604197 POLR2J2 DNA directed RNA polymerase II polypeptide J-related This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. 16913423,15987790,15586814,12477932,12036295,11747469,10784442,9847074 246721 NM_032959,AC004084,AJ277738,AB209398,AI073388,AJ277739,BC050598,BC056864,BC071870,BC086857,BC110985,CR596358,CR600981,CR606303,CR607828,CR614811,CR621944,CR624568,CR625464 NP_116581,AAP22341,AAP22342,BAD92635,CAC18329,AAH86857,Q59FR2,Q9GZM3 Hs.696339,Hs.700609 HRPB11B|MGC105050|MGC54043|RPB11b1 protein-coding 1606853 POLR2J3 RPB11b2 protein This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. 16913423,15987790,15586814,12477932,12036295,11747469,9847074 548644 NM_001097615,AC004084,AC093668,AJ277736,AJ277931,AF468111,AJ277740,AJ277741,BC044209,BC113031,CR615948 NP_001091084,CAC18332,AAL87672,CAC18330,CAC18331,Q86TH9,Q86UW4,Q8TDE6,Q9H1A7,AAI56864 Hs.696339 MGC54043|POLR2J2|RPB11b1|RPB11b2 protein-coding 1352672 POLR2K polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. 1580863 10704353,10698937,10617616,10567706,10545121,10536359,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,1403646,7651387,9405375,12226669,8946909,1939271,2449431,9409616,9512541,9582279,9790902,12393749,12646563,12676794,17714821,15489334,15235609,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12213660,12126615,12114499,12052871,12049628,11809800,11547919,11112772,11080476,10958691,10931842,10866664,10784442,10757782,10725406,8876177,8849451,8800208,8676484,8637904,7853496,7638159,2190099,1559613,12775419,12089333,17168834,16838299,15175163,16189514 5440 NM_005034,AC025647,AJ252078,CH471060,BC000806,BC018157,CR456870,CR597305,CR610014,Z47727 NP_005025,CAB91873,EAW91798,EAW91799,AAH00806,AAH18157,CAG33151,CAA87656,P53803,Q6IBD4,ABM82085,ABM85266 Hs.351475 GDB:250751 ABC10-alpha|RPABC4|RPB10alpha|RPB12|RPB7.0|hRPB7.0|hsRPB10a protein-coding 1349201 POLR2L polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. 10866664,10784442,10757782,10725406,10704353,10698937,10617616,10567706,10545121,10536359,10474687,10438593,10393184,10373521,10364292,10359081,10329125,10069959,10066804,9874563,9765201,9696809,9651670,9570510,9491887,9334327,9315662,9311822,9201987,9184228,9121429,9054383,8934526,8910388,8876177,8849451,8800208,8676484,8637904,7853496,7651387,7638159,2190099,1559613,1403646,8524256,9405375,12226669,8786124,8946909,1939271,2449431,9409616,9512541,9790902,12676794,16189514,15489334,15231747,14743216,14569024,12887902,12642036,12634356,12477932,12391170,12379213,12221105,12126615,12114499,12052871,12049628,12775419,12089333,17168834,16838299,15175163,11809800,11547919,11112772,11080476,10958691,10931842 5441 NG_007478,AP006623,CH471158,Z47728,Z47729,BC005903,BC018649,CR536565,U37690,NM_021128 EAX02408,CAA87657,CAA87658,AAH05903,AAH18649,CAG38802,AAA91459,P62875,Q6FHX3,ABM84072,ABM87439,ABM87561,NP_066951 Hs.441072 GDB:250752 RBP10|RPABC5|RPB10|RPB10beta|RPB7.6|hRPB7.6|hsRPB10b protein-coding 1345066 POLR2LP polymerase (RNA) II (DNA directed) polypeptide L pseudogene 493825 1351863 POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1580863 9331371,12477932,12391170,12384934,11416169,1403646 11128 NM_007055,AL512628,CH471083,AF021351,AK024744,AK026023,AY091459,AY091460,AY091461,AY091462,BC014399,BC041089,CR610303 NP_008986,CAI16466,EAW54617,AAB86536,AAM12029,AAM12030,AAM12031,AAM12032,AAH14399,AAH41089,O14802,Q7Z755,Q8IW34,Q8TCW2,Q8TCW3,Q8TCW4 Hs.436896 RPC1|RPC155|hRPC155 protein-coding 1351468 POLR3B polymerase (RNA) III (DNA directed) polypeptide B 737633,1580863 18044988,15489334,14702039,12477932,12391170,1403646 737633 55703 NM_018082,AC009721,AC078992,AC080012,CH471054,AK001161,AK001250,AK090636,AK092031,AK122713,AK291635,AY092084,BC017501,BC033542,BC033724,BC046238,BX537447,CR595354 NP_060552,EAW97780,EAW97781,BAA91527,BAA91581,BAF84324,AAM18214,AAH46238,CAD97689,Q7Z3R8,Q9NW08 Hs.62696,Hs.610795 FLJ10388|RPC2 protein-coding 1323060 POLR3C polymerase (RNA) III (DNA directed) polypeptide C (62kD) 1580863 9171375,15489334,12477932,12391170,12384934,10523658,10373544,9373149,8125298,1403646 10623 NM_006468,AJ238221,AJ238234,AL160282,CH471244,AK223413,AY091463,BC002586,BC004424,CR592330,CR605615,CR608817,CR613712,U93867 NP_006459,CAB41919,EAW71434,EAW71435,EAW71436,BAD97133,AAM12033,AAH02586,AAH04424,AAB63675,Q53F76,Q9BT08,Q9BUI4 Hs.591457 RPC3|RPC62 protein-coding 1323468 POLR3D polymerase (RNA) III (DNA directed) polypeptide D, 44kDa This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. 1580863 17081983,15489334,12477932,12391170,11279001,7947392,7799973,3683386,2714790,1403646 661 NM_001722,AC105206,CH471080,L15301,AF346574,AK026588,AY092086,BC000516,BC002603,BC003039,BC004484,BQ006609,CR536509,CR541803,CR595334,CR598620,CR602098,CR609079,CR609971,CR611897,CR622854,M17754 NP_001713,EAW63689,EAW63690,EAW63691,EAW63692,AAA72377,AAK15371,AAM18216,AAH02603,AAH04484,CAG38747,CAG46602,AAA51838,P05423 Hs.148342 BN51T|RPC4|RPC53|TSBN51 protein-coding 1317654 POLR3E polymerase (RNA) III (DNA directed) polypeptide E (80kD) 1580863 15489334,14702039,12477932,12391170,10819331,10521666,9373149,8125298,1403646 55718 NM_018119,AC009034,AC092338,CH471249,AB040885,AK001371,AK023160,AK023231,AK026645,AK130661,AK222671,AK222789,AY092085,BC000285 NP_060589,EAW50605,EAW50606,EAW50607,EAW50608,BAA95976,BAA91655,BAB14437,BAB14481,BAD96509,AAM18215,AAH00285,Q53GZ2,Q53HB0,Q9NVU0 Hs.460298 RPC5|SIN protein-coding 1315038 POLR3F polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. 1580863 9171375,16169070,10623476,15489334,14702039,12477932,12391170,11780052,10523658,9373149,8125298,1403646 10621 AK096684,AK223298,AK290892,BC012588,BC016761,U93869,NM_006466,AL121893,CH471133 EAX10239,EAX10240,EAX10241,BAD97018,BAF83581,AAH12588,AAH16761,AAB63677,Q05DB8,Q53FI8,Q9H1D9,ABM83621,NP_006457,CAC11110,ABM87168 Hs.472227 GDB:9958041 MGC13517|RPC39|RPC6 protein-coding 1348674 POLR3G polymerase (RNA) III (DNA directed) polypeptide G (32kD) 1580863 9171375,16341674,15342556,12391170,1403646 10622 NM_006467,AC027323,AC093510,CH471084,AK025490,BM788728,BP348952,CD657312,U93868 NP_006458,EAW95980,EAW95981,EAW95982,AAB63676,O15318,AAI40283,AAI41650 Hs.282387 RPC32|RPC7 protein-coding 1353647 POLR3GL polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 737633 14702039,12477932 737633 84265 NM_032305,AL160282,CH471244,CS185581,AK056984,AK092209,BC004355,BC050418,DQ418461 NP_115681,EAW71412,EAW71413,EAW71414,CAJ42762,BAB71332,AAH04355,ABD76394,Q9BT43 Hs.591456 FLJ34890|MGC3200|RPC32HOM|flj32422 protein-coding 1314191 POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) 1580863 12391170,15489334,15461802,12477932,11258795,10591208,1403646 171568 AB051452,AK000365,AK026524,AK129663,AY092087,BC017248,BC088367,BI754673,BU928882,BX331353,BX367405,CB126821,CR456459,CR597879,CR606203,CR621091,NM_001018052,NM_001018050,NM_138338,AL023553,CH471095 EAW60441,BAB33335,BAC85211,AAM18217,AAH17248,AAH88367,CAG30345,Q6ZPA8,Q9Y535,CAK54440,CAK54739,NP_001018062,NP_001018060,NP_612211,CAB46023,EAW60437,EAW60438,EAW60439,EAW60440 Hs.643610 KIAA1665|MGC111097|MGC29654|RPC8 protein-coding 1350025 POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. 1580863 9869639,17499043,16728641,15616553,10079944,9054936,1403646,15489334,12477932,12391170,11157797 51728 NM_016310,AE006462,AF126531,CH471112,DQ431198,Z69719,AF051316,AF060223,BC011932 NP_057394,AAK61210,AAD31424,EAW85879,ABD95903,CAI95605,AAF18268,AAG43123,AAH11932,Q9Y2Y1,ABM87280,ABW03869 Hs.632223 GDB:11502921 C11|C11-RNP3|My010|RPC10|RPC11|hRPC11 protein-coding 1312131 POLRMT polymerase (RNA) mitochondrial (DNA directed) This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. 1580863 17337445,16079853,15526033,15258572,15057824,12477932,12068295,9373149,9097968,8125298,12897151 5442 AB209920,AK225723,AK225865,BC024170,BC030829,BC070057,BC098387,U75370,NM_005035,AC004449,CH471242 EAW61178,BAD93157,AAH24170,AAH98387,AAB58255,O00411,Q4G0F4,Q59E91,Q6PJ24,NP_005026,AAC06147,EAW61177 Hs.254113,Hs.512026 GDB:6288479 APOLMT|MTRNAP|MTRPOL|h-mtRPOL protein-coding 1316507 POLS polymerase (DNA directed) sigma The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. 10066793,18421076,18330920,15489334,12477932,11459963,10926539 11044 NM_006999,AC122710,AY623114,CH471102,AB005754,AF089896,AI871781,AK289857,BC084567,BC117137,BC126106,CR607319 NP_008930,AAT38110,EAX08101,BAA24434,AAD45198,BAF82546,AAH84567,AAI17138,AAI26107,Q5XG87 Hs.481542 GDB:9956281 LAK-1|POLK|TRF4|TRF4-1 protein-coding 1605101 POM121 POM121 membrane glycoprotein (rat) The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is an integral membrane protein that localizes to the central spoke ring complex and participates in anchoring the nuclear pore complex to the nuclear envelope. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. 12228227,17900573,17081983,16713569,16189514,15304359,14702039,12853948,12477932,11707516,11448991,10546895,9734811,8335683,7789967,9621063 9883 NM_172020,CH471200,AB014518,AB289621,AK001215,AK022555,AK123814,AK292548,AL080109,AL713666,BC001518,BC008794,BM994161 NP_742017,EAW69698,BAA31593,BAF80887,BAB14097,BAF85237,CAB45713,CAD28472,AAH01518,AAH08794,Q96DI0,Q96HA1,Q9H9X1,Q9Y2N3 Hs.655217 GDB:9958342 DKFZp586G1822|DKFZp586P2220|FLJ41820|KIAA0618|MGC3792|POM121A protein-coding 2290514 POM121B POM121 membrane glycoprotein B (pseudogene) 17900573 729316 NG_006249,AC073841,AC073941 pseudo 2290521 POM121C POM121 membrane glycoprotein C 17900573,14702039,12477932,12073013,11779826,9847074 100101267 NM_001099415,AC006014,AC018720,AB354586,AK125865,AK127026,AL050158,BC013954,BC082993,BC130587,BC130589,BX649044 NP_001092885,BAF80888,BAC86794,AAI30588,AAI30590,Q6ZT02 Hs.436034 DKFZp586P2220|DKFZp779K1713|FLJ43877|FLJ45082|MGC163459|MGC163461|POM121-2 protein-coding 1347281 POM121L1 POM121 membrane glycoprotein-like 1 (rat) This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. 12477932,9391893,9074928 25812 NG_000002,D87002,BC103891 BAA19999,AAI03892,Q3SYA9 Hs.558711 GDB:11507440 pseudo 1343533 POM121L2 POM121 membrane glycoprotein-like 2 (rat) 94026 XM_001717703,XM_001715475,XM_001718816,AL021808,CR748811 XP_001717755,XP_001715527,XP_001718868,CAB36861,Q96KW2 GDB:11501056 POM121-L protein-coding 1353023 POM121L3 POM121 membrane glycoprotein-like 3 (rat) 85801 Q9HD05 AL133466 GDB:11501057 1352964 POM121L4P POM121 membrane glycoprotein-like 4 pseudogene (rat) 266697 NG_002374,AC007050 GDB:11510752 pseudo 1344633 POM121L6P POM121 membrane glycoprotein-like 6pseudogene (rat) 404027 1352097 POMC proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin) This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. 1601429,1580863,1357926,1601430,1357925 9620771,18398047,18091355,18057378,17719137,17696832,17687619,17604950,17545153,17525122,17503481,17487313,17363457,17351784,17347308,17317724,17235324,17122358,17108680,17079660,17043312,16984256,16876134,16807684,16740999,16682835,16675966,16610949,16459315,16459314,16289330,16222047,16177130,16946714,16876316,16136012,16136011,16091310,16081629,16046867,16046320,15951321,15949633,15864412,15862552,15812563,15798195,15666849,15666826,15597110,15585384,15560758,15546902,15498881,15489334,15480745,15472174,15464199,15358786,15340161,15251468,15226502,15102092,15100697,15099286,15009732,15004414,14729605,14645373,14576363,14532850,14463577,12944398,12914931,12887283,12787137,12697721,12643442,12590613,12566947,12485424,12477932,12475731,12220743,12213892,12165561,12068494,12039064,12032760,11979399,11936276,11606131,11278902,11244459,11151766,11101306,11041375,10942578,10193875,9768693,9186529,8185570,7828531,7726641,7477400,6945581,6546764,6314261,6299668,6280146,6274691,6272808,6267033,6254047,6196780,4352834,4347148,4338630,4334191,3606677,2839146,2558057,2475499,2424570,1656407,1264228,195688,9851780 1601429,1357926,1601430,1357925 5443 NM_000939,NM_001035256,AC012457,CH471053,J00291,J00292,V01510,AI341269,AW951218,BC065832,BT019918,CB988233,CR541826,DQ884404,M25896,M28636,M38297,S76492 NP_000930,NP_001030333,AAY24354,EAX00729,EAX00730,AAB59621,CAA24754,AAH65832,AAV38721,CAG46625,ABI63371,AAA35799,AAA60139,AAA60140,AAC60644,P01189,Q53T23,Q53WY7,Q5TZZ7,Q6FHC8,Q6LDP0 Hs.1897 GDB:120307 ACTH|CLIP|LPH|MSH|NPP|POC 1643262,1643271,2289166,2289172,2289226,2289642,2289647,2289649 BW207_H,BW214_H,SLEP5_H,SLEP6_H,SLEP8_H,BW507_H,Insul1_H,BW508_H protein-coding 1601994 POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. It is mutant in muscle-eye-brain disease (MIM 253280).[supplied by OMIM] 9915951,9373149,8125298,10737800,11742540,11709191,17906881,17878207,17869517,16857188,16710414,16344560,15489334,15466003,15236414,15207699,14702039,12975309,12788071,12588800,12477932,12467726 55624 NM_017739,AL672043,CH471059,AB057356,AF250859,AK000284,AK022727,AK026430,AK055301,AK056186,AK225033,AW818474,AY358592,BC001471,BM999774,CR749700,DA187331 NP_060209,CAH72469,EAX06932,CAH72470,EAX06933,EAX06934,EAX06935,EAX06936,BAB71960,AAF71270,BAA91053,BAB14207,AAQ88955,AAH01471,CAH18478,Q5VST3,Q68CV6,Q8WZA1 Hs.525134 GDB:599557 DKFZp761B182|FLJ20277|GnTI.2|MEB|MGAT1.2 protein-coding 1314101 POMP proteasome maturation protein 16624403,16251969,15944226,15489334,15057823,14733938,12477932,12060596,11042152,10973495,10926487,10891394 51371 NM_015932,AL359454,CH471075,AF077200,AF125097,AF262975,AF275807,BC003390,BC014334,CR600731,CR608459,EF535527 NP_057016,CAI17157,EAX08434,EAX08435,AAD26995,AAD39914,AAK58521,AAG23819,AAH03390,AAH14334,ABQ08566,Q9Y244,ABM85055 Hs.268742 C13orf12|HSPC014|PNAS-110|UMP1 chromosome 13 open reading frame 12 protein-coding 1348575 POMT1 protein-O-mannosyltransferase 1 O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM] 731235,1580863 10366449,14699049,17878207,17869517,17079174,16698797,16344560,16303743,15792865,15637732,15522202,15489334,15037715,14702039,12925572,12757935,12477932,12369018 731235 10585 NM_001077365,NM_001077366,AF095150,AL358781,CH471090,CQ783718,AF095136,NM_007171,AK000475,AK074874,AK074888,AK094558,BC022877,BC065268,BF984005,DB154785,AB209430 NP_009102,NP_001070833,NP_001070834,AAD41246,CAI40219,CAI40220,CAI40221,CAI40222,CAI40223,CAI40224,CAI40225,CAI40226,CAI40227,EAW87974,EAW87975,EAW87976,EAW87977,EAW87978,CAF86827,AAD41245,BAA91190,BAC11269,AAH22877,AAH65268,Q59FN0,Q5JSZ6,Q5JT03,Q5JT05,Q5JT07,Q9Y6A1,BAD92667 Hs.522449 GDB:9957688 FLJ37239|LGMD2K|RT protein-coding 1313480 POMT2 protein-O-mannosyltransferase 2 POMT2 encodes an integral membrane protein of the endoplasmic reticulum (ER) that shares significant sequence similarity with a family of protein O-mannosyltransferases of S. cerevisiae. For additional background information, see POMT1 (MIM 607423).[supplied by OMIM] 1580863 17923109,17878207,17634419,16698797,16344560,15894594,15489334,14702039,14699049,12508121,12477932,12460945,11162531,8889548 29954 AC007375,AC007954,CH471061,AB209114,AF105020,AI927974,AK023804,AK025962,AL049462,AL353956,AL554279,AY090480,BC031651,NM_013382,BE797202,BM127609,BM724049,BX248027,CB148531,CR627447,DA056935,DB456599 NP_037514,AAF63184,AAF62558,EAW81276,EAW81277,BAD92351,AAF14118,CAB89256,AAM12046,AAH31651,CAD62348,CAH10531,Q59GJ5,Q6AHY3,Q9UKY4 Hs.132989 DKFZp686G10254|FLJ22309 protein-coding 1350881 POMZP3 POM (POM121 homolog, rat) and ZP3 fusion This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of this gene. 12477932,11329013,7789967,16702234 22932 A56844 BC000487,BC017101,BG461659,BI084456,CR603033,CR616549,U10099,NM_152992,NM_012230,AC004980 AAA85788,A56844,Q6PJE2,AAI48539,AAI53131,NP_694537,NP_036362 Hs.488877,Hs.699798 GDB:9957741 MGC8359|POM-ZP3|POM121 protein-coding 1349272 PON1 paraoxonase 1 1580196,1580197,1580198,1580199,1580200,1580201,1580202,1580203,1580204,1580227,1580863,1642617,1642618,1642628 16627808,16614106,16600468,16565923,16551349,16534235,16521945,16515855,16510204,16495777,16474172,16472799,16411107,16407304,16357806,16335952,16327022,16323636,16319130,16308493,16269825,16260097,16239632,16229851,16213467,16185677,15922013,15900219,15899485,15877867,15865106,15864126,15853807,15853770,15823275,15797522,15774926,15772423,15767359,15721005,15715671,15704252,15681296,15654230,15642273,15629887,15580063,15576850,15538743,15488880,15488805,15454272,15450851,15368102,15359538,18260892,18241625,18219093,18164014,18083534,18034366,18000171,17977159,17949258,17936978,17936934,17936248,17920578,17900266,17854416,17716225,17702780,17664137,17662690,17651311,17646900,17624629,17624354,17623520,17617032,17617030,17592556,17587252,17585031,17568951,17560461,17558807,17556053,17554394,17539292,17536768,17532308,17532162,17469180,17463067,17460182,17449559,17437735,17436311,17436100,17435182,17428620,17416287,17412348,17412306,17373636,17334638,1673382,1657140,14718574,18469206,18443916,18433845,18430447,18430057,18427977,18413200,18361900,18349088,18347314,18322397,18281420,18274205,16142697,16141008,16140307,16128586,16120573,16117861,16112460,16112327,16105444,16094856,16080611,16078734,16077191,16052486,16035730,16030523,16027737,16023312,16008163,16002382,15995178,15993880,15993873,15982977,15974833,15969877,15952113,15939049,15928879,15925115,16175651,15924216,17309646,17304721,17299970,17296173,17286579,17204329,17183021,17173245,17136774,17125774,17118352,17106515,17090529,17078098,17065348,17001213,16996683,16985026,16949520,16949193,16942773,16940704,16926679,16919539,16915393,16914770,16912512,16882531,16880229,16863614,16835048,16824336,16822965,16808888,16807370,16799134,16794478,16792468,16790239,16780669,16776637,16775186,16767666,16766384,16729301,16683402,16681435,16674912,16629699,15346646,15345661,15331145,15284530,15270786,15256524,15251338,15241482,15236768,15232408,15214960,15166781,15163466,15140512,15136237,15135268,15124181,15097870,15090300,15087255,15076187,15060281,15050299,15039125,15023811,15016430,15015140,15008790,15001326,14996478,14985779,14967092,14767577,14760718,14695884,14686479,14669822,14642415,14642403,14636952,14624476,14602783,14579940,14527200,14511766,14500290,12963475,12957728,12955589,12928148,12889841,12871320,12853948,12824947,12805074,12790379,12783936,12777966,12756158,12740482,12706315,12697270,12690205,12679462,12645966,12640090,12625227,12621166,12618290,12618279,12615663,12601623,12588779,12575193,12566597,12563177,12545199,12536571,12531885,12480756,12849920,11918623,11918278,11889198,11888590,11888532,11880198,11860890,11851721,11810302,11805006,11788650,11768721,11740946,11726658,11714857,11692002,11676977,11668222,11596674,11557671,11555845,11512679,11511976,11511975,11476678,11472729,11428219,11409295,11395042,12480737,12477932,12474066,12466264,12454802,12442067,12417809,12355548,12241013,12210872,12204800,12204423,12196500,12151850,12139735,12082592,12082503,12080042,12074828,12074827,12052975,12052142,12009854,11993715,11971942,11940319,11935033,11388660,11375798,11341749,11335891,11328206,11257264,11239953,11231922,11151764,11104219,11096050,11073850,10479665,9714608,9661650,9261565,9011577,8812495,8770857,8675673,8661009,8393745,8393742,8382160,8292612,8098250,7916578,7638166,6324579,1718413 1580196,1580197,1580198,1580199,1580200,1580201,1580202,1580203,1580204,1580227,1642617,1642618,1642628 5444 NM_000446,AC004022,AF402963,AF402965,AF539592,CH236949,CH471091,S56555,S64696,U55885,BC074719,CB122285,D84371,M63012,M63013,M63014,S64615,U53784,Z70723 NP_000437,AAC35293,AAL04502,AAL04504,AAM97935,EAL24133,EAW76771,AAB25717,AAB27899,AAB41835,AAH74719,BAA12327,AAB59538,AAA60142,AAA60143,AAB27714,AAA97957,CAA94728,P27169,Q6B0J6,Q96P89,Q96P91,Q9UCB1 Hs.370995 GDB:120308 ESA|PON 1643388,1643401 BW321_H,BMD1_H protein-coding 1320575 PON2 paraoxonase 2 This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. 1580216,1580217,1580218,1580219,1580863,1642614,1642625 8661009,18427977,18413200,18361900,18258817,18063859,18020951,17916643,17854416,17664137,17557249,17436100,17428620,17412306,17406108,17404154,17309646,17299970,17137217,17096118,16926679,16891303,16822965,16822964,16776623,16767666,16411107,16614106,16319130,16551349,16185677,16164576,16141008,16135439,16117861,16080611,16078734,16030523,15776585,15772423,15607899,15544923,15489334,15359538,15345661,15256524,15232408,15166781,15039125,15001326,14996478,14984433,14741412,14636952,12955589,12939804,12853948,12778447,12588779,12561466,12477932,12454802,12442067,12433026,12151850,12082592,11918623,11803456,11768721,11692002,11676977,11579088,11512679,11257265,11206400,9847074,9714608,9443862,9329371,17353931 1580216,1580217,1580218,1580219,1642614,1642625 5445 NM_000305,NM_001018161,AC005021,AF001603,AY210982,CH236949,CH471091,AB102891,AF001601,AF001602,AK291103,BC009728,BC040010,BC046160,BC093006,CB961097,CR594670,CR597620,CR598929,CR599247,CR601053,CR603256,CR603589,CR603708,CR608153,CR616165,CR616262,CR621343,CR621526,CR622708,CR622962,CR624060,CR625587,L48513 NP_000296,NP_001018171,AAC62431,AAC27946,AAO18083,EAL24131,EAW76763,EAW76764,EAW76765,EAW76766,EAW76767,BAD89420,AAC27944,AAC27945,BAF83792,AAH09728,AAH40010,AAH46160,AAC41995,Q15165,Q5FBX7,Q6PJZ2,Q86X69 Hs.530077 GDB:578911 1643388 BW321_H protein-coding 1344009 PON3 paraoxonase 3 This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. 1580863 8661009,17900266,17702780,17664137,17412306,17379834,16822964,16621408,16551349,16335952,16319130,16139510,16117861,16099434,16078734,15993332,15772423,15607899,15489334,15028279,14996478,14757195,14702039,14695884,14636952,12853948,12690205,12588779,12477932,12151850,11752456,11304470,11304457 5446 NM_000940,AC004022,AC005021,AY805220,CH236949,CH471091,AA860930,AF320003,AF329433,AK096114,AV655538,BC020908,BC070374,CD014095,CD014097,CD014100,CD014102,L48516 NP_000931,AAV50000,EAL24132,EAW76768,AAK07629,AAO15365,AAH70374,AAC41996,Q15166 Hs.440967 GDB:578912 protein-coding 1318482 POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 1580863 15096576,8918471,16723659,15635413,15302935,12477932,11790298,11694598,11455963,10199568,9725903,9405234,7584044,16189514 10940 NM_015029,AP003439,CH471060,AK000837,AK291434,BC011529,CR620435,D31765,X99302 NP_055844,EAW91776,BAF84123,AAH11529,BAA06543,CAA67684,Q96F88,Q99575 Hs.252828 GDB:9958619 KIAA0061|MGC17365 protein-coding 1314291 POP4 processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) 1580863 10352175,15096576,15635413,15489334,12477932,11455963,10024167,16189514 10775 NM_006627,AC010505,AF001176,BC004438,BC006098,BC013686,CR536569,CR620341,CR624820,CR936714,Y18863 Q6FHW9,ABM83983,ABM87306,NP_006618,AAD00893,AAH04438,AAH06098,CAG38806,CAB39167,O95707 Hs.412870 GDB:9958270 RPP29 protein-coding 1323474 POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 15096576,18164267,17081983,15489334,12477932,11413139,11042152,10931946,10352175,9373149,8125298,16189514 51367 NM_198202,NM_015918,AC063943,CH471054,AA918619,AF070660,AF117232,AJ306296,AK223206,BC012505,BI549018,BI668578,BU155588,CB995722,CR625634 NP_937845,NP_057002,EAW98205,EAW98206,EAW98207,EAW98208,AAD20966,AAF17213,CAC59822,BAD96926,AAH12505,Q969H6 Hs.279913 HSPC004|RPP2|RPP20 protein-coding 1315010 POP7 processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) 1580863 14715275,15096576,9630247,15635413,15489334,12690205,12477932,11158571,9618478,16189514 10248 NM_005837,AC009488,CH236956,CH471091,AJ572668,BC001430,BI666854,CR601550,CR608046,CR608631,U94316 NP_005828,EAL23821,EAW76495,AAH01430,AAC24113,O75817 Hs.416994 0610037N12Rik|RPP2|RPP20 processing of precursor 7, ribonuclease p subunit (s. cerevisiae) protein-coding 1352577 POPDC2 popeye domain containing 2 This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. 1302855,1580863 10882522,15489334,12477932,9373149,8125298 1302855 64091 NM_022135,AC023494,AC073352,AF204173,AK226022,BC026911,BC044929 NP_071418,AAG23406,AAH26911,AAH44929,Q9HBU9 Hs.656031 POP2 protein-coding 1343916 POPDC3 popeye domain containing 3 This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. 1302855 10882522,15489334,14574404,12477932,9373149,8125298 1302855 64208 NM_022361,AL356775,AL359709,CH471051,AF204171,AK225989,BC022323,BF244570,CA433204,CR591052 NP_071756,CAI13615,CAI13616,CAI13617,CAI17218,CAI17219,EAW48427,EAW48428,AAG23404,AAH22323,Q9HBV1 Hs.458336 MGC22671|POP3|RP11-99L11.2|bA355M14.1 protein-coding 68468 POR P450 (cytochrome) oxidoreductase This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. 1580863,1599697 2513880,10048323,18397975,18230729,18216718,17881660,17827787,17635179,17595315,17580970,17505056,17440066,17018578,16998238,16574318,16520232,16467261,16445284,16434211,16344560,15793702,15666840,15489334,15483095,15342556,15264278,15220035,14999778,14758361,12901793,12787027,12782579,12725870,12688675,12626517,12477932,11971899,11926825,11716457,11350900,11329263,11329262,11181502,11123926,11118675,11035953,10990198,10448278,9888582,9847074,9787138,9642268,9398194,9335117,8812989,8615895,8460938,7703255,2516426,1550342 1599697 5447 NM_000941,AC005067,AC006330,CH471220,DQ640499,AB051763,AB209874,AF258341,AK129978,AK290529,BC034277,BG104767,BP244929,BX648619,CR590488,CR597060,CR604362,CR604872,CR610590,CR613407,DA701694,S90469 NP_000932,AAD45961,EAW71777,EAW71778,EAW71779,EAW71780,ABF70199,BAB18572,BAD93111,AAG09798,BAF83218,AAH34277,CAH56151,AAB21814,P16435,Q197M5,Q59ED7,Q63HL4,Q9UDT3 Hs.354056 GDB:120309 CPR|CYPOR|DKFZp686G04235|FLJ26468|P450R protein-coding 1343900 PORC porphyria, acute; Chester type 2864531,8340112 5448 GDB:128610 1603972 PORCN porcupine homolog (Drosophila) This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the Porc family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. 18325042,17546031,17546030,15489334,14702039,12477932,12034504,10866835 64840 NM_203473,NM_022825,NM_203476,NM_203475,NM_203474,NG_007452,CH471224,AF317058,AF317059,AF317060,AF317061,AK056340,AK057727,AL538245,BC019080,BM543485,BM545893,CR623014,L08239 ABM83558,ABM86795,Q96MW6,Q9H237,NP_982299,NP_073736,NP_982302,NP_982301,NP_982300,EAW50777,EAW50778,EAW50779,EAW50780,EAW50781,AAG39628,AAG39629,AAG39630,AAG39631,BAB71155,AAH19080,AAA74510 Hs.386453 GDB:119847 DHOF|FODH|MG61|MGC29687|PORC|PPN|por protein-coding 1313223 POSTN periostin, osteoblast specific factor 1580863 17876898,17060937,17043657,17014703,16807673,16702213,16335952,16136586,15880581,15093540,15082792,15057823,14702039,12477932,11550156,12235007,8363580,18208976,18097555 10631 NM_006475,AL138679,AL646087,CH471075,AK021444,AY140646,AY918092,BC106709,BC106710,D13665,D13666 NP_006466,EAX08590,EAX08591,EAX08592,EAX08593,EAX08594,AAN17733,AAY15840,AAI06710,AAI06711,BAA02836,BAA02837,Q15063,Q29XZ0,Q5VSY6,Q5VSY7,Q5VSY8 Hs.136348,Hs.664318 MGC119510|MGC119511|OSF-2|PDLPOSTN|PN|RP11-412K4.1|periostin protein-coding 1344340 POT1 POT1 protection of telomeres 1 homolog (S. pombe) This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. 1580863 12768206,16166375,18178559,18066078,17848914,17632522,17237768,17237767,16344560,16043710,16030011,15973431,15792951,15657433,15632080,15620654,15558049,15489334,15231715,15181449,15060173,14744765,14715659,14702039,12853948,12781132,12477932,12391173,11349150,8889548,16189514 25913 NM_001042594,NR_003103,NM_015450,NR_003104,NR_003102,AC004925,AC096665,AC110791,CH236947,CH471070,AK001230,AK001935,AK022580,AK026234,AL050120,AY823520,AY823522,AY823523,AY823524,BC002923,BM693856,CR605349,DA412639,DA580630,DA707481,AY823521 NP_001036059,NP_056265,AAD08852,EAW83615,EAW83616,EAW83617,BAA91568,BAA91988,BAB14110,BAB15404,CAB43281,AAW22613,AAW22614,AAW22615,AAW22616,AAW22617,AAH02923,Q5MJ32,Q5MJ33,Q5MJ34,Q5MJ35,Q5MJ36,Q9NUX5,ABM83691,ABM87009 Hs.31968 DKFZP586D211|hPot1 protein-coding 732450 POU1F1 POU class 1 homeobox 1 This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. 1601432,1580863 1487156,9482665,9392392,18059085,17565274,17456792,17047377,17021049,16901973,16879162,16740974,16505001,16322098,16263824,16214911,16133148,16061841,16030140,15998782,15928241,15031321,14714741,14646405,12932747,12773133,12717343,12629113,12242337,12223489,12200420,12189206,12165656,11924936,11891224,11847467,11297581,11222742,10549299,10367888,9751061,9639565,9626142,9588494,9485179,9426156,9032233,8768831,8755540,8663380,8458380,8370519,8346040,8027225,7833912,7721104,7670563,7608249,7593413,3215510,2902927,2739723,1956794,1509263,1509262,1472057,1370379,1302000 1601432 5449 X72215,NM_000306,NM_001122757,AC130885,CH471110,D11333,D11334,D12892,X77223,X77224,D10216,L18781,S73501,X62429 CAA44295,CAA51017,P28069,Q16223,Q9UD34,AAI52852,NP_000297,NP_001116229,EAW68866,EAW68867,BAA34536,BAA02291,CAA54440,CAA54441,BAA01068,AAA60093,AAB31227 Hs.591654 GDB:129070 GHF-1|PIT1|Pit-1 pou domain, class 1, transcription factor 1 protein-coding 1323347 POU2AF1 POU class 2 associating factor 1 1580863 16713566,7859290,16934875,15796964,15672409,15489334,14662861,14552839,14515270,12727885,12672812,12477932,12230975,11907094,11483518,11483517,11380252,11136971,10541551,9819426,9632764,9442392,9211847,8617501,8574789,7779176,7623806 5450 AAB34937 NM_006235,AP002451,CH471065,BC032549,CR599556,X83504,Z47550,Z49194 NP_006226,EAW67137,AAH32549,CAA58494,CAA87630,CAA89053,AAB34937,Q16633,ABM81795,ABW03292 Hs.654525 GDB:682056 BOB1|OBF-1|OBF1|OCAB protein-coding 1344654 POU2F1 POU class 2 homeobox 1 1580863 17316622,17273778,17192276,16710414,16597591,16360016,16301215,16186125,16116232,16002402,15831936,15817654,15786443,15613485,15489334,15302935,15138251,15105429,14702039,14645506,14612514,14586402,14559893,14522952,12923055,12887926,12887915,12853155,12727885,12672812,12669425,12663137,12598320,12477932,12446597,12391146,12144930,12019209,11997177,11856838,11777930,11380252,11134019,10779377,10490647,10480874,10383413,9889203,9584182,9537509,9418884,9368058,8668525,8479524,8462099,8454622,8202368,8156594,7842742,7720710,7663141,7642649,2905684,1887216,7690421,15207707,16189514,11096094,10629049,12670868,7945330,9242494,2341156,11891224,18083338,17609683,17568400,17442950,17393420 5451 NM_002697,AL136984,AL451050,CH471067,AK091438,AY113189,BC001664,BC003571,BC007388,BC052274,X13403 NP_002688,CAI15171,EAW90786,EAW90787,EAW90788,AAM77920,AAH01664,AAH03571,AAH07388,AAH52274,CAA31767,P14859,Q5TBT8,Q5TBT9,Q5TBU0 Hs.493649 GDB:120254 OCT1|OTF1 protein-coding 1347223 POU2F2 POU class 2 homeobox 2 1580863 3265124,9242494,9442393,17442950,16186795,15831936,15796964,14707079,14662861,12663137,12477932,12144930,11841448,11583619,11279128,10490647,10480874,9870616,9819426,9584182,9368058,9078256,8902060,8202368,8156594,7914745,7888080,7720710,2904654,2904653,2901913,2328728,12887926,16189514,15489334 5452 X81030,BC006101,BT007438,CB995118,CR594168,CR604513,CR615602,M22596,M36542,M36653,M36718,M36772,X13809,X13810,X53468,X53469,NM_002698,AC010247,AC022515,AC024076,CH471126 CAA56933,AAH06101,AAP36106,AAA64232,AAA36732,AAA36389,AAA36390,AAA59978,AAA36392,CAA32039,CAA32040,CAA37562,CAA37563,CAA37565,P09086,Q16624,Q9UMI6,Q9UMJ4,NP_002689,EAW57098,EAW57099,EAW57100,EAW57101,EAW57102,EAW57103,EAW57104,EAW57105,EAW57106,EAW57107 Hs.654420 GDB:120255 OCT2|OTF2|Oct-2 protein-coding 1351293 POU2F3 POU class 2 homeobox 3 1580863 12624109,9242494,10473598,17989732,17195013,16607278,16005513,15077167,14702039,12477932,11429405,8441607 25833 NM_014352,AP000679,AP001150,CH471065,AF133895,AF162278,AJ012214,AK097382,AK291993,BC101649,CR593728 NP_055167,EAW67503,AAD55245,AAF00199,CAB45383,BAF84682,AAI01650,Q3MIY3,Q9UKI9,ABZ92227 Hs.227115 Epoc-1|FLJ40063|MGC126698|OCT11|PLA-1|Skn-1a protein-coding 730819 POU3F1 POU class 3 homeobox 1 1580863 8663425,9242494,8451175,8662541,17959798,17195013,12557005,9742157,9457692,9105675,8567814,7909356,7791781,7720710,1976514,1975954 5453 NM_002699,AL139158,CH471059,CR611990,L26494,S81257 NP_002690,CAI23136,EAX07298,AAA59965,AAB35991,Q03052,Q16423,Q5TAG2,AAI56295 Hs.1837 GDB:138779 OCT6|OTF6|SCIP protein-coding 1351786 POU3F2 POU class 3 homeobox 2 POU3F2 belongs to a large family of transcription factors that bind to the octameric DNA sequence ATGCAAAT. Most of these proteins share a highly homologous region, referred to as the POU domain, that occurs in several mammalian transcription factors, including the octamer-binding proteins Oct1 (POU2F1; MIM 164175) and Oct2 (POU2F2; MIM 164176) and the pituitary protein Pit1 (PIT1; MIM 173110). Class III POU genes are expressed predominantly in the central nervous system (CNS). It is likely that CNS-specific transcription factors such as these play an important role in mammalian neurogenesis by regulating their diverse patterns of gene expression (Schreiber et al., 1993 [PubMed 8441633]; Atanasoski et al., 1995 [PubMed 7601453]).[supplied by OMIM] 1580863 11029584,7601453,9482665,15024079,17163992,16858508,15489334,15024080,14702039,14574404,12782656,12477932,10332029,9632656,9178889,8441633,7651733,7478537,2739723,2216722,1565620 5454 NM_005604,AL022395,CH471051,L37868,AK095588,BC051699,BQ423615,BU183021,Z11933 NP_005595,CAB37982,EAW48491,AAB59611,AAH51699,CAA77990,P20265 Hs.182505 GDB:222816 BRN2|OCT7|OTF7|POUF3 protein-coding 1349087 POU3F3 POU class 3 homeobox 3 POU3F3 is a member of the class III POU family of transcription factors (see POU3F1; MIM 602479) that are expressed in the central nervous system. The POU domain in these proteins is required for high affinity binding to octamer DNA sequences Sumiyama et al. (1996) [PubMed 8703082].[supplied by OMIM] 1580863 8703082,16582099,9632656,9457692,9105675,2739723 5455 NM_006236,AB001835,AC018730,CH471127 NP_006227,BAA19459,AAX88973,EAX01771,P20264,Q4ZG25 Hs.673855 GDB:511017 BRN1|OTF8 protein-coding 732459 POU3F4 POU class 3 homeobox 4 1599155,1599156,1580863 12062767,9889200,9778298,9667433,9298820,9105675,7911044,7581392,7839145,15772651 1599155,1599156 5456 NM_000307,CH471104,Z82170,X82324 NP_000298,EAW98577,CAI42602,CAA57767,P49335,Q6ZSF8,AAI41562,AAI46552 Hs.2229 GDB:351386 BRAIN-4|BRN4|DFN3|DFNX2|OTF9 protein-coding 1346307 POU4F1 POU class 4 homeobox 1 BRN3A (POU4F1) is a class IV POU domain-containing transcription factor highly expressed in the developing sensory nervous system and in cells of the B- and T-lymphocytic lineages (Gerrero et al., 1993 [PubMed 8248179]).[supplied by OMIM] 1580863 8995448,16276351,16247485,15272315,15021903,12934100,12911730,12893201,12810599,12477932,12441296,12432261,12427558,9448000,8941380,8889548,8248179,8234287,7623109,1357630 5457 NM_006237,AL445209,CH471093,U10063,BM714015,BM726529,L20433,N74107,X64624 NP_006228,CAI15184,EAW80584,EAW80585,AAA57161,AAA65605,CAA45907,Q01851,Q5T227,AAI48331,AAI48793 Hs.654522 GDB:229370 BRN3A|FLJ13449|Oct-T1|RDC-1 protein-coding 1346191 POU4F2 POU class 4 homeobox 2 POU4F2 is a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. A class IV POU-domain protein, POU4F2 is found in human retina exclusively within a subpopulation of ganglion cells where it may play a role in determining or maintaining the identities of a small subset of visual system neurons.[supplied by OMIM] 1580863 18367606,17637757,17490655,16368877,16344560,16152597,15968082,15833836,14970234,14726699,12724837,11526481,9448000,8332509,8234287,7691107,7623109,8995448 5458 NM_004575,AC093887,CH471056,BY796838,DB082745,EU439706,L20434,U06233,X71488 NP_004566,EAX05025,ACA49233,AAA36393,AAA16509,CAA50589,Q12837 Hs.266 GDB:229369 BRN3.2|BRN3B|Brn-3b protein-coding 1321371 POU4F3 POU class 4 homeobox 3 1599168,1580863 9506947,7623109,18228599,17611044,15489334,15465029,14585957,12477932,12209986,8637595 1599168 5459 NM_002700,AC011396,AF044575,CH471062,U10060,U10061,BC104923,BC112207 NP_002691,AAC06203,EAW61843,EAW61844,EAW61845,EAW61846,AAA57160,AAI04924,AAI12208,Q15319,ABZ92178 Hs.553499 GDB:9787047 BRN3C|DFNA15|MGC138412 protein-coding 1350605 POU5F1 POU class 5 homeobox 1 2292442,1580863,2292435,2292433,2292428,2292429,2292432,2292431,2292434,2292443 11891324,16153702,9814708,18281244,18269588,18254969,18157115,18088417,18032701,17959850,17923501,17761754,17682839,17573914,17549357,17525163,17506876,17413979,17409736,17390031,17379765,17314394,17314032,17273778,17226773,17211834,17205510,17136117,17068183,16951404,16916925,16892178,16702430,16582099,16229821,16149048,15917470,15790780,15695770,15625129,15615706,15513931,15467907,15342930,15105401,12923055,12841847,12727846,12653732,12477932,11689681,11099378,11096094,9368058,8889549,8567814,8500351,8088794,7908264,1723621,1408763,15749924 2292442,2292435,2292433,2292428,2292429,2292432,2292431,2292434,2292443 5460 BA000025,BX088580,CH471081,CR388229,CR759815,CR847794,AA205411,AI811039,AM851115,AM851116,AM851117,AM851118,AM851119,AM851120,AM851121,NM_002701,NM_203289,AB088113,AB103619,AB202105,AL662833,AL662844,AL773544,AM851122,AM851123,AM851124,AM851125,AM851126,BC020712,BC069246,BC117435,BC117437,BQ278003,CD247724,DQ486514,DQ486515,DQ486516,DQ486517,S81255,Z11898,Z11899 CAI18485,CAI18486,BAB63311,CAI18708,CAI18709,EAX03366,EAX03367,EAX03368,CAQ09226,CAQ09227,CAQ07092,CAQ07093,CAQ10780,CAQ10781,CAO99189,CAO99190,CAO99191,CAO99192,CAO99193,CAO99194,CAO99195,NP_002692,NP_976034,BAC54946,BAF31281,BAE78630,CAI17407,CAI17408,CAI18331,CAO99196,CAO99197,CAO99198,CAO99199,CAO99200,AAI17436,AAI17438,AAB35990,CAA77951,CAA77952,Q01860,Q5STD5,Q5STF3,Q5STF4 Hs.249184 GDB:135499 MGC22487|OCT3|OCT4|OTF3|OTF4 protein-coding 1346950 POU5F1P1 POU class 5 homeobox 1 pseudogene 1 1408763,16201836,11780052 5462 NR_002304,AC016883,DQ120688,Z11901,AF268615,AF268618,DQ486513 ABB92462,CAA77953,AAG53085,ABF29403,Q06416,Q2VIK6 Hs.450254 GDB:135673 OTF3C|OTF3P1|POU5FLC8 pseudo 1625831 POU5F1P2 POU class 5 homeobox 1 pseudogene 2 100009665 NG_006103,AP002851 pseudo 1343632 POU5F1P3 POU class 5 homeobox 1 pseudogene 3 17245123,16229821,8500351,16557044 642559 NG_005793,AC092111,AF268617 AAG53084,Q9BZV8 Hs.646545 GDB:136323 OTF3L|POU5F1L|POU5FLC12 pou domain, class 5, transcription factor 1-like pseudo 1625853 POU5F1P4 POU class 5 homeobox 1 pseudogene 4 16229821 645682 NG_005794,AL139410,AF268613,DQ851566 AAG53082,Q9BZW0 Hs.632482 POU5FLC1 pseudo 1625830 POU5F1P5 POU class 5 homeobox 1 pseudogene 5 100009667 NG_006104,AL356741 pseudo 1625829 POU5F1P6 POU class 5 homeobox 1 pseudogene 6 100009668 NG_006105,AC079945 pseudo 1625828 POU5F1P7 POU class 5 homeobox 1 pseudogene 7 100009669 NG_006106,AC117460 pseudo 1606459 POU5F2 POU domain class 5, transcription factor 2 15489334,14702039,12477932,7908264 134187 NM_153216,AC108102,CH471084,AK098546,BC029532,BX641019,Z21965 NP_694948,EAW96016,BAC05328,AAH29532,CAE46012,CAA79976,Q8N7G0,ABZ92379 Hs.678995 DKFZp686P02123|FLJ25680|SPRM-1 protein-coding 731653 POU6F1 POU class 6 homeobox 1 1580863 7908264,18323601,15489334,14702039,12477932,8567814,8102789,1408763 5463 NM_002702,AC139768,CH471111,AK095191,AL832881,BC051326,BC074765,BC107090,L14482,Z21963,Z21964,Z21966 NP_002693,EAW58179,EAW58180,AAH51326,AAH74765,AAI07091,CAA79974,CAA79975,CAA79977,Q14863,Q3B832,Q7Z7P6,ABZ92179 Hs.594817,Hs.632482,Hs.646545 GDB:361078 BRN5|MPOU|TCFB1 protein-coding 1322006 POU6F2 POU class 6 homeobox 2 POU6F2 is a member of a gene family characterized by the presence of a bipartite DNA-binding domain, consisting of a POU-specific domain and a POU heterodomain, separated by a variable polylinker. POU domain family members are transcriptional regulators, many of which show highly restricted patterns of expression and are known to control cell type-specific differentiation pathways (see review by Phillips and Luisi, 2000 [PubMed 11183772]).[supplied by OMIM] 1580863 8601806,15459955,12853948,11284034,11183772 11281 NM_007252,AC005483,AC011292,AC073345,AC092174,CH236951,CH471073,U91934,U91935 NP_009183,AAC83404,AAS07475,AAP21873,EAL23992,EAW94116,EAW94117,AAB49727,AAB49728,P78424,AAI52916 Hs.137106 RPF-1|WT5|WTSL protein-coding 1352455 PP1P pyrophosphatase (inorganic) 1 pseudogene 151842 NG_002639,AC104297,AC132807 pseudo 1352864 PPA1 pyrophosphatase (inorganic) 1 The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. 1303939,1580863 10542310,16130169,4130389,17494625,16583711,16236267,16169070,15489334,15164054,12477932,10931946,10733883,10576771,6146563,6120771,6118133,6022858,975879,656444 1303939 5464 AY295767,BC001022,BC061581,BC105034,BC105036,BC107882,BU520836,CR600002,CR600729,CR608704,CR615198,CR615525,CR616904,CR617195,CR621939,CR623200,CR625578,NM_021129,AL731540,CH471083,AB026723,AF092439,AF108211,AF119665,AF154065,AF217186,AK058193,AK127102 BAC86830,AAH01022,AAH61581,AAI05035,AAI05037,AAI07883,Q15181,Q5SQT6,Q6ZSW6,ABM84523,NP_066952,CAI13692,CAI13693,EAW54383,EAW54384,EAW54385,EAW54386,BAA84702,AAP97214,AAD24964,AAF17222,AAD34643,AAG36780 Hs.437403 GDB:119505 IOPPP|MGC111556|PP|PP1|SID6-8061 pyrophosphatase (inorganic) protein-coding 1604365 PPA2 pyrophosphatase (inorganic) 2 The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 16381901,16341674,16300924,15489336,15489334,15210126,15146197,14702039,12665801,12477932,11230166,11076863,11042152 27068 NM_176866,NM_001034191,NM_006903,NM_176869,AC004066,AC106888,CH471057,AB026722,AF161473,AF217187,AI419577,AK000466,NM_176867,AK289607,AL136655,AW953776,BC008246,BC012903,BC022803,BC035569,BC039462,BC057219,BG705183,BM840112,BM848099,CN423093,CR590064,CR609410,CR611738,CR614549 NP_789843,NP_789842,NP_001029363,NP_008834,NP_789845,AAY41040,EAX06180,EAX06181,EAX06182,EAX06183,EAX06184,BAA84701,AAF29088,AAG36781,BAA91184,BAF82296,CAB66590,AAH08246,AAH12903,AAH22803,AAH39462,AAH57219,Q0JT04,Q4W5E9,Q96HR1,Q9H2U2,CAL38123,CAL38360,CAL38629,CAL38669,CAL38671 Hs.654957 FLJ20459|HSPC124|MGC49850|SID6-306 protein-coding 1314882 PPAN peter pan homolog (Drosophila) The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. This gene was found to cotranscript with P2RY11/P2Y(11), an immediate downstream gene on the chromosome that encodes a ATP receptor. The chimeric transcripts of this gene and P2RY11 were found to be ubiquitously present and regulated during granulocytic differentiation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. 1580863 17353931,10944437,15302935,17081983,16964243,16565220,15489334,12477932,12429849,12077223,11790298,10873382,10359593,9405388,11278528 56342 NM_020230,AC020931,CH471106,AJ292529,AW298633,BC000535,BC009833,BC033202,CR590875,CR594907,CR599651,CR601898,CR607280,CR610340,CR610501,CR614009,CR618663,CR621741,CR625570 NP_064615,EAW84075,CAB99252,AAH00535,AAH09833,AAH33202,Q9NQ55 Hs.14468 GDB:10796822 BXDC3|MGC14226|MGC45852|SSF|SSF1|SSF2 protein-coding 1642403 PPAN-P2RY11 PPAN-P2RY11 The PPAN-P2RY11 mRNA is a naturally occurring read-through product, a result of intergenic splicing between adjacent genes, PPAN and P2RY11. The encoded fusion protein comprises of sequence sharing identity with each individual gene product. This transcript is found to be ubiquitously expressed and is upregulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. 12077223,11278528,9405388 692312 NM_001040664,AC020931,AX001017,CH471106,AF030335,AJ300588 NP_001035754,CAB77112,EAW84076,AAB88674,CAC18877 Hs.14468 protein-coding 1344834 PPAP2A phosphatidic acid phosphatase type 2A The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is an integral membrane glycoprotein, and has been shown to be a surface enzyme that plays an active role in the hydrolysis and uptake of lipids from extracellular space. The expression of this gene is found to be regulated by androgen in a prostatic adenocarcinoma cell line. At least two alternatively spliced transcript variants encoding distinct isoforms have been described. 9468526,9570154,9305923,9705349,17169329,17005594,16950767,15489334,14506139,12909631,12477932,12471011,12444089,12426308,10962286,10358934,10087003,9607309,10681496 8611 AC010480,AC025777,CH471123,AB000888,AF014402,AF014403,AF017116,BC008787,BC039847,BC117133,BI761588,CR593294,CR597320,CR601918,CR602046,CR615521,NM_003711,NM_176895,CR617429,CR617594,CR618167,CR619523 NP_795714,EAW54920,EAW54921,EAW54922,EAW54923,BAA22593,AAC16032,AAC16033,AAC32041,AAH39847,AAI17134,NP_003702,O14494 Hs.696231 GDB:9956025 LLP1a|LPP1|PAP-2a|PAP2|PAP2a2|PAP2alpha2|PAPalpha1 protein-coding 1604845 PPAP2B phosphatidic acid phosphatase type 2B The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. Alternatively spliced transcript variants encoding the same protein have been described. 9705349,9305923,18215144,17555747,17005594,15489334,14725715,12856002,12660161,12477932,12471011,10739957,10564277,9110174,8889548,8619474 8613 NM_003713,NM_177414,AC099562,AC099789,CH471059,AB000889,AF017786,AF043329,AF480883,BC009196,BM471786,BM719257,BT019589,BU608248,BU616092,CR598492,CR599005,CR607403,CR618566,U79294 NP_003704,NP_803133,EAX06651,EAX06652,EAX06653,BAA22594,AAC63433,AAD02271,AAO84481,AAH09196,AAV38396,AAB50222,O14495,Q5U0F7,ABM84447,ABM86870 Hs.405156,Hs.708050 GDB:9956030 Dri42|LPP3|MGC15306|PAP-2b|PAP2-b|PAP2-beta|VCIP protein-coding 734254 PPAP2C phosphatidic acid phosphatase type 2C The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 9607309,18215144,16467304,15489334,12477932,12471011,10992322,9705349,9570154 8612 NM_177526,NM_177543,AC016588,CH471242,AB209696,AF035959,AF047760,AF056083,BC002806,BG831889,NM_003712,BM050291,BT007021 NP_003703,NP_803545,NP_808211,EAW61207,EAW61208,EAW61209,BAD92933,AAC15968,AAC32104,AAC25666,AAH02806,AAP35667,O43688,Q59EW5 Hs.465506 GDB:9956028 LPP2|PAP-2c|PAP2-g protein-coding 1351368 PPAPDC1A phosphatidic acid phosphatase type 2 domain containing 1A 17590538,12477932 196051 NM_001030059,AC023282,AC073587,AL157782,BD418666,CH471066,AK098668,BC101267,BC101268,BC101269,BC122535,BC132787,BI550027,CR739184,DR000933 NP_001025230,CAH70332,CAH70333,EAW49368,EAW49369,AAI01268,AAI01269,AAI01270,AAI22536,AAI32788,Q5VZY2 Hs.40479 DPPL2|MGC120299|MGC120300|PPAPDC1 protein-coding 1607002 PPAPDC1B phosphatidic acid phosphatase type 2 domain containing 1B 17590538,16261160,12477932 84513 NM_001102559,NM_032483,NM_001102560,AC087362,BD418664,CH471080,AA761242,AF212238,AK292118,BC033025,BC106014,BE856962,BQ272061,CR591117,CR597379,CR606143,CR606207,DB458595 NP_115872,NP_001096030,EAW63325,EAW63326,EAW63327,EAW63328,EAW63329,AAK14924,BAF84807,AAH33025,AAI06015,Q8NEB5,NP_001096029 Hs.567619 DPPL1|HTPAP protein-coding 1606068 PPAPDC2 phosphatidic acid phosphatase type 2 domain containing 2 17081983,16464866,15489334,15164053,14702039,12477932 403313 NM_203453,AL136231,CH471071,AK074672,AK128369,BC036833,BC038108 NP_982278,CAI41266,EAW58785,BAC11126,AAH38108,Q8IY26 Hs.107510 FLJ46512|FLJ90191|MGC15483|PSDP|bA6J24.6 protein-coding 1314085 PPAPDC3 phosphatidic acid phosphatase type 2 domain containing 3 737633 16303743,15489334,15164053,14702039,12958361,12477932 737633 84814 NM_032728,AL354855,CH471090,AK027568,AK075207,BC006362,CR599374,CR619561 NP_116117,CAI16274,CAI16275,EAW87966,EAW87967,BAB55204,BAC11472,AAH06362,Q8NBV4 Hs.134292 C9orf67|FLJ14662|KIAA0515|MGC12921|NET39|RP11-643E14.1 protein-coding 737309 PPARA peroxisome proliferator-activated receptor alpha Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. 1580222,1580228,1580229,1580230,1580231,1580226,1580863 16275545,16239970,16226051,16221474,16189514,16169070,16162941,16043164,15940190,15935279,15888456,15811118,15797250,15759454,15735069,15699916,15699244,15685545,15677519,15642120,15608561,15549499,15539630,15521013,15500444,15497675,15461802,15456881,15318936,15309680,15258199,15231516,15221005,15199365,16285997,15196699,9610365,9407140,9238002,8993548,8910358,8621574,7981125,11158331,15615782,15131257,15128052,15111510,15083308,15067378,15051727,15001550,15001458,14999402,14764586,14730379,14702039,14677049,14671555,14641801,14633846,14523052,14519597,14515181,12938026,12932225,12914524,12897377,12855749,12847522,12835617,12810707,12745064,12709436,12655356,12615366,12594814,12594295,12554753,12544508,12482853,9113987,12039952,16554032,10377439,16271724,7684926,9792666,18398047,18336366,18219093,18182682,18061194,18003597,17998026,17991667,17963696,17962186,17951966,17926914,17850927,17705849,17700210,17655842,17646210,17616429,17608096,17492134,17436029,17431031,17363837,17363697,17356846,17355223,17342071,17331954,17317762,17300045,17272748,17200111,17195188,17184146,17181634,17150915,17129741,17084382,17008383,17001213,12477932,12468272,12408750,12395215,12208475,12203367,12189208,12163133,12161442,12118038,12118000,12055195,12048138,12042669,12023905,12006394,11981036,11980898,11940516,11934839,11923467,11914252,11897821,11897617,11864924,11852057,11845213,11840500,16956579,16875506,16847426,16822823,16806233,16763159,16652134,16637234,16630553,16511589,16506057,16492688,16416313,16377806,16309557,16297361,16288986,16288935,11818483,11698662,11668221,11587644,11466580,11409711,11337467,11226238,11119019,10903152,10872826,10862523,10860941,10786636,10681503,10669761,10591208,10542237,10403814,10336495,10195690,10187842,10022764,9915808,9795230,9748221,9653119,9627117,9626662 1580222,1580228,1580229,1580230,1580231,1580226 5465 NM_005036,NM_001001928,AL049856,AL078611,AY206718,CH471138,DQ867023,Z94161,AB073605,AF018254,AF086231,AK024738,AK027101,AK091885,AK289821,AU099251,AU104848,AY258326,AY258327,AY258328,AY258329,AY258330,AY258331,BC000052,BC004162,BC009069,BC071932,BQ024839,CR456547,CR457435,EU395809,L02932,S74349,Y07619,Y16186 NP_005027,NP_001001928,AAO13489,EAW73402,EAW73403,EAW73404,ABI52417,BAF82510,AAO89521,AAO89522,AAO89523,AAO89524,AAO89525,AAO89526,AAH00052,AAH71932,CAG30433,CAG33716,ABY73535,AAA36468,AAB32649,CAA68898,CAA76112,O75780,Q07869,Q6I9S0,Q6IPG1,Q86SF0,Q9BWQ7,CAK54578,CAK54877 Hs.103110,Hs.710044 GDB:202877 MGC2237|MGC2452|NR1C1|PPAR|hPPAR peroxisome proliferator activated receptor alpha protein-coding 1603230 PPARAL peroxisome proliferator-activated receptor alpha-like 9027492 5466 U72041 Hs.585799 GDB:4573994 protein-coding 736289 PPARD peroxisome proliferator-activated receptor delta This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. PPARs are nuclear hormone receptors that bind peroxisome proliferators and control the size and number of peroxisomes produced by cells. PPARs mediate a variety of biological processes, and may be involved in the development of several chronic diseases, including diabetes, obesity, atherosclerosis, and cancer. This protein is a potent inhibitor of ligand-induced transcription activity of PPAR alpha and PPAR gamma. It may function as an integrator of transcription repression and nuclear receptor signaling. The expression of this gene is found to be elevated in colorectal cancer cells. The elevated expression can be repressed by adenomatosis polyposis coli (APC), a tumor suppressor protein related to APC/beta-catenin signaling pathway. Knockout studies in mice suggested the role of this protein in myelination of the corpus callosum, lipid metabolism, and epidermal cell proliferation. 1580681,633661,1625186,1580863 17431579,17409576,17356846,17355643,17327385,17324937,17322100,17303761,17303142,17272748,17259439,17254750,17178883,17148604,17119917,17116180,17068288,16979821,16966336,16953259,16906219,16897074,16806233,16804087,9113987,1333051,11551955,11847022,15192438,15803109,15793256,10991946,18438697,18379566,18337509,18288282,18252792,18240567,18239549,18182682,18048767,18037904,18024853,17926914,17855759,17724132,17705821,17693664,17669420,17436029,16752430,16652134,16645156,16511591,16476973,16387648,16368717,16361076,16344721,16344560,16306381,16285997,16141797,16091736,16061473,15979543,15890193,15888456,15811118,15790807,15604518,15591138,15489334,15231748,15128052,15102088,15001550,14988273,14758356,14702039,14641801,14574404,12970571,12934104,12909723,12615676,12594814,12477932,12009300,11980898,11867749,11226285,10872826,10866668,10851270,10839530,10567538,10555149,10198642,9647638,8910358,8812511,7876127,12943985,16189514,15615782 1580681,633661,1625186 5467 NM_006238,AF246303,AL022721,AY442342,CH471081,AB099507,AK122614,AK291661,AY919140,AY927506,BC002715,BC007578,BQ441091,DA192442,L07592 NP_006229,AAF62553,CAB38629,CAD92505,AAR05439,EAX03825,EAX03826,EAX03827,EAX03828,BAC78903,BAF84350,AAX14041,AAH02715,AAH07578,AAA36469,Q03181,Q5D1P0 Hs.696032 GDB:1223809 FAAR|MGC3931|NR1C2|NUC1|NUCI|NUCII|PPAR-beta|PPARB peroxisome proliferator activated receptor delta 1643377 BW325_H protein-coding 69168 PPARG peroxisome proliferator-activated receptor gamma This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. 1580657,1580683,1580684,1580685,1580686,1580687,1580688,1580689,1580690,1580659,1580721,1601443,1601444,1601445,1601446,1331525,1580863 15827101,15811118,15799829,15799828,15797964,15785241,15784141,15782399,15781755,15781195,15778927,15764642,15759454,15756430,15739197,15729575,15727952,15705622,15699916,15695504,15690702,15685547,15673477,15666037,15665104,15662218,15656884,15653094,15649578,15642120,15608564,15592662,15583697,15581066,15574741,15564289,15563983,15562398,15562396,15562387,15562025,15558556,15550453,15543562,15543217,15533057,15531761,15531738,15518421,15507122,16682954,16678327,16644636,16644635,16643621,16640330,16633734,16630553,16625233,16622580,16600233,16595010,16574647,16567542,16556603,16543247,16542739,16541712,16530159,16513680,16504037,16489531,16474974,16451087,16421345,16420563,16419492,16417216,16412238,16407418,16407258,16407166,16401314,16393309,16391825,16388849,16373923,16367885,16362285,16352687,16344721,16338464,16316841,16314192,16311214,16303758,16298355,16259478,16253648,16249460,16239304,16230789,16219715,16216916,16215757,16210701,16204373,16201313,16186413,16180511,16179407,16156795,16141797,16115480,16110031,16108843,16108832,16096283,16091736,16084854,16050954,16039966,16029943,16007414,15994875,15990085,15988700,15988600,15986237,15985484,15976135,15976031,15974597,15972940,15959859,15959417,15959400,15950942,15946122,15940190,15935279,15934434,15926113,15920035,15919430,15896659,15894676,15888456,15887858,15880426,15860437,15857827,15855323,15855261,15855254,15853827,15846185,9568715,9113987,10622252,9744270,9568716,10973253,12588810,18467141,18466209,18451773,18443916,18442313,18426866,18426861,18424599,18417957,18398047,18388889,18381063,18379566,18372284,18370824,18362424,18317437,18317436,18317435,18317434,18316027,18313022,18292390,18288282,18282590,18280041,18271689,18268966,18263601,18250615,18247297,18241614,18239549,18234854,18217139,18214615,18211635,18209083,18203887,18202670,18198294,18187557,18182855,18182682,18164040,18162503,18160840,18159845,18158351,18096664,18091023,18077140,18055759,17999673,17999084,17998334,17994213,17985660,17980149,17941898,17937104,17928738,17926914,17921408,17903300,17898990,17896990,17892998,17890503,17884443,17874829,17870167,17852881,17805473,17805195,17803977,17785925,17785633,17785586,17766367,17765929,17763950,17704298,17700648,17696929,17681394,17681149,17665979,17664351,17658197,17653445,17643887,17628005,17624182,17616777,17614769,17612754,17611675,17611413,17465682,17463248,17462987,17461486,17459764,17440948,17439324,17436029,17434720,17428620,17415545,17408525,17399685,17380316,17374711,17374678,17372612,17369494,17359638,17356846,17356052,17355643,17351273,17351148,17348446,17342473,17342071,17335469,17331464,17330131,17329993,17325208,17322631,17322577,17321592,17312272,17307204,17292728,17287921,17272748,17270153,17259473,17259396,17255125,17227883,17222225,17220689,17213274,17192490,17187763,17181634,17178896,17151549,17141766,17135601,17123335,17118693,17106695,17101779,17094261,17092389,17084528,17080261,17065690,17052804,17052689,17032502,17020404,17015477,17011503,17008383,17005393,16999948,16982809,16973789,16972250,17588204,17587797,17611194,17601994,17574226,17573040,17570749,17565986,17563457,17553506,17544013,17535976,17535427,17532820,17521736,17513608,17495182,17495181,17493550,17492134,17487454,17483060,17482764,17473186,17466258,16965392,16959787,16955276,16951334,16945329,16940242,16937502,16927016,16920849,16919947,16916989,16915030,16908772,16896567,16889541,16887883,16881538,16864989,16857792,16854216,16842753,16835228,16824933,16823031,16822823,16804087,16803995,16789503,16785230,16785159,16783862,16777151,16775170,16771114,16766531,16763406,16725353,16713673,16696315,16687627,15489334,15486307,15479564,15472214,15367918,15362967,15356014,15345676,15333496,15331599,15318936,15299084,15284449,15265789,15258247,15258145,15254719,15236769,15220243,15217350,15211802,15202783,15201543,15193259,15187150,15165749,15161789,15156314,15144586,15136115,15128052,15113752,15111325,15083308,15077315,15072437,15056000,15054105,15042019,15041706,15023995,15015141,14988278,14981210,14974928,14747257,14730381,14729856,14702344,14686729,14681835,14681322,14680975,14677049,14671555,14671211,14671186,14668325,14659862,14657011,14633865,14627349,15507114,12672231,12663371,12630956,12620489,12615821,12615696,12615657,12610044,12609711,12601635,12601634,12594295,12591919,12588773,12568179,12565902,12551936,12544508,12538445,12536206,12535639,12519876,12502716,12502512,12485829,12479814,12477932,12468551,12457461,12453919,12453902,12439219,12429071,12406034,12404189,12401439,12397391,12397176,12395215,12370112,12354130,12324573,12324185,12230498,12218380,12213872,12193733,12189136,12165097,12161548,12161538,12148087,12145184,12145174,12145143,12118251,12107164,12086968,12082592,12080444,12080321,12079854,12077117,14587029,14581158,14581151,14581147,14574455,14566836,14550563,14515149,14514601,14506281,14506127,12974743,12970322,12949056,12923397,12923396,12923071,12915690,12866036,12861348,12839942,12839938,12829999,12829715,12829658,12829631,12827242,12821652,12813462,12805087,12801610,12801525,12800228,12800106,12779083,12776192,12767049,12765972,12765846,12763030,12746759,12739018,12732844,12730867,12730300,12727991,12716762,14616762,14604894,12714582,12714563,12709137,12679463,12673785,12075579,12065695,12062858,12056809,12055328,12054675,12048686,12040021,12037571,12029076,12015306,11980898,11980626,11979403,11972302,11971969,11956653,11953889,11948965,11948400,11934839,11928067,11924722,11923467,11916624,11914642,11903058,11897821,11897617,11888683,11884452,11877444,11872694,11872377,11872366,11872365,11862322,11847231,11845236,11840500,11836575,11836319,11831892,11809750,11793024,11788685,11698662,11696534,11596673,11587644,11554760,11554739,11522688,11511919,11508283,11466580,11444435,11443177,11409297,11402923,11334419,11330046,11315829,11289055,11248748,11246892,11242476,11226238,11079814,11069206,10974018,10944516,10882139,10872826,10854698,10848596,10843155,10842190,10788465,10781090,10681503,10517671,10428835,10407229,10347167,10339548,10075656,9918859,9813012,9753710,9750197,9653119,9626662,9425261,9373149,9356045,9325263,9228052,9168928,9144532,9065481,9030579,8706692,8702406,8125298,8001151,7862171,7838715,7787419,15070754,14764597,15075535,16189514,12943985,15047147,1504714,14636573,11158331,9041124,10930400,8910358,15694360,12039952,15615782,14761960,10394368 1580657,1580683,1580684,1580685,1580686,1580687,1580688,1580689,1580690,1580659,1580721,1601443,1601444,1601445,1601446,1331525 5468 NM_138712,NM_005037,NM_138711,NM_015869,AB005520,AB005526,AC090947,AC091492,AC093174,AF012873,AF012874,AY157024,CH471055,AB097931,AB107271,AJ563369,AJ698135,AK223528,AK290581,AL523434,AY222643,BC006811,BG323933,BI820841,BM923992,BQ925271,BT007281,CR599329,CR605352,CR609113,CR609454,CR622226,D83233,DQ356894,U63415,U79012,X90563,AJ563370 NP_619726,NP_005028,NP_619725,NP_056953,BAA23353,BAA23354,AAN38992,EAW64123,EAW64124,EAW64125,BAD20647,BAD34540,CAD91388,CAD91389,CAG29019,BAD97248,BAF83270,AAO66458,AAH06811,AAP35945,BAA18949,ABC97372,AAB04028,AAC51248,CAA62152,CAA62153,P37231,Q0QJH8,Q4W448,Q4W4C6,Q4W4C7,Q53EW1,Q6L9M1,Q86WD1,Q9UEF6,ABM82034,ABM85215 Hs.162646 GDB:1223810 NR1C3|PPARG1|PPARG2 peroxisome proliferator activated receptor, gamma 2289256,2289503,2289518 BW95_H,BW443_H,BW454_H protein-coding 1342674 PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. 1580863 10713165,12588810,14636573,15572661,11854298,11551810,10585775,1258810,18467552,18451773,18438697,18370824,18331997,18270681,18242180,18162502,18067759,17999673,17971240,17926914,17907962,17828388,17701054,17680531,17646210,17630210,17579564,17502589,17490458,17479445,17457313,14978033,14744933,14729567,14670614,14652494,14633846,14574455,14522988,12972445,12866036,12832613,12611894,12606537,12606503,12574109,12565902,12563009,12522104,12502716,12477932,12470660,12470296,12397057,12189208,12181572,12107756,12032643,12011097,11943463,11916956,11875072,11793024,11788685,11751919,11741533,17418099,17390150,17374560,17372612,17355643,17342473,17327880,17327385,17322100,17290397,17284167,17241533,17216277,17187763,17150186,17108241,17032743,17018837,17018277,16978381,16978372,16929032,16902166,16896940,16891621,16891307,16882880,16857725,16804087,16753578,16752166,16704985,16631115,16600233,16494845,16474966,16446747,16443502,16435105,16395669,16341842,16241916,16216916,16203862,16150865,16132959,16123152,16122961,16086291,16051671,15964996,15937669,15912394,15908514,15864539,15826954,15824463,15821111,15784253,15782399,15738346,15705733,15649578,15599700,15592662,15582274,15581067,15572376,15337744,15329387,15322103,15254719,15146371,15111510,11733490,11714715,11557984,11340167,11158005,10983978,10748020,10669761,10643692,10558993,10412986,9529258 10891 AB061325,AF106698,AF159714,AF186379,AK024990,BC029800,NM_013261,AC092834,AF108205,CH471069 EAW92812,BAE46508,AAF18573,AAD51615,AAD56250,Q3LIG1,Q4W5M7,Q9UBK2,AAI56324,AAI57069,EAW92811,NP_037393,AAY41058,AAF19083 Hs.527078 LEM6|PGC-1(alpha)|PGC-1v|PGC1|PGC1A|PPARGC1 peroxisome proliferative activated receptor, gamma, coactivator 1, alpha 1643453 BW99_H protein-coding 1350671 PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta 1580863,1642499,1642500,1642501 11854298,17690194,17579828,17341490,17018837,16896940,16759305,16704985,16132959,15863669,15546003,14702039,12832613,12678921,12565902,12551939,12477932,12470660,12181319,12107756,12032643,11793024,11733490,10713165,10585775 1642499,1642500,1642501 133522 NM_133263,CH471062,AC008545,AC022100,AF468496,AF468497,AK095391,AK123614,AK123715,AY188947,AY188948,AY188949,AY188950,BC026956,BC132971,BC132973 NP_573570,EAW61759,EAW61760,EAW61761,EAW61762,EAW61763,AAL78633,AAL78634,BAC04541,AAO40022,AAO40023,AAO40024,AAO40025,AAH26956,AAI32972,AAI32974,Q86YN6,Q8TAL0 Hs.591261 ERRL1|PERC|PGC-1(beta)|PGC1B peroxisome proliferative activated receptor, gamma, coactivator 1, beta protein-coding 733613 PPAT phosphoribosyl pyrophosphate amidotransferase The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. This protein is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosynthesis. This gene and PAICS/AIRC, a bifunctional enzyme catalyzing steps six and seven in the purine nucleotide biosynthesis pathway, are located in close proximity on chromosome 4. 1580863 8106516,15489334,12477932,10597272,10593947,9373149,9108165,8380692,8125298,1574589,752480 5471 AC068620,CH471057,U00239,AB209246,AK222759,AK290942,BC004200,CR592110,CR596411,CR599321,D13757,U00238,NM_002703 NP_002694,EAX05487,EAX05488,BAD92483,BAD96479,BAF83631,AAH04200,BAA02903,AAC27345,Q06203,Q53H22,Q59G63,ABM84410,ABM87409 Hs.331420 GDB:119506 ATASE|GPAT|PRAT protein-coding 1348767 PPATP1 phosphoribosyl pyrophosphate amidotransferase pseudogene 1 8106516 5472 GDB:313064 736390 PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and sythesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. 1625598,1580863 4005226,47244,17220270,17045893,16807663,16806233,16391012,16317101,15815621,15489334,15340161,15316029,14673015,12878486,12665801,12477932,12297130,12193731,11468158,11167759,10877842,10343098,10049766,9794434,9725262,8950790,8702798,8580362,8195702,8051099,8034022,7890771,7706245,6572368,6183294,2966071,2783111,2713489,2522778,2423119,2406364,2007144,1873479,1837963,1830861,1826003,1427896,1387511,1316786,426909,77677,10419831,16189514 1625598 5473 AAB46877 AC097709,AF349466,CH471057,BC028217,BQ447470,BX443846,CB112845,CR456805,M54995,NM_002704 NP_002695,AAY41004,AAK29642,EAX05695,AAH28217,CAG33086,AAA62836,AAB46877,P02775,ABM81946,ABM85126 Hs.2164 GDB:127391 B-TG1|Beta-TG|CTAP-III|CTAP3|CTAPIII|CXCL7|LA-PF4|LDGF|MDGF|NAP-2|PBP|SCYB7|TC1|TC2|TGB|TGB1|THBGB|THBGB1 pro-platelet basic protein protein-coding 1347875 PPBPL1 pro-platelet basic protein-like 1 (includes platelet basic protein, beta-thromboglobulin, connective tissue-activating peptide III, neutrophil-activating peptide-2-like 1) 1316786 5474 GDB:128701 1345126 PPBPL2 pro-platelet basic protein-like 2 1580863 7887923 10895 Q13862 XM_926381,XM_938030,AC097709,L10403 XP_931474,XP_943123,AAY41007,AAA68277,Q13862 Hs.3134 SPBPBP protein-coding 1605355 PPCDC phosphopantothenoylcysteine decarboxylase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM] 15581364,15489334,14702039,14501115,12975309,12477932,11923312 60490 NM_021823,AC015720,CH471136,AF182419,AK027491,AY358848,BC005877,BC014409,BF243417,CR615272 NP_068595,EAW99275,EAW99276,AAG14955,BAB55151,AAQ89207,AAH14409,Q96CD2,ABM83135,ABM86331 Hs.458922 FLJ14585|MDS018 protein-coding 1605955 PPCS phosphopantothenoylcysteine synthetase Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM] 16710414,15489334,14702039,12906824,12477932,11923312 79717 NM_024664,NM_001077447,AL445669,CH471059,AK021900,BC012383,BC062586,BC104938,BC106064,BC112015,CR595942,CR606074,CR606199,CR615199,CR619545 NP_078940,NP_001070915,CAH70746,CAH70747,CAH70748,CAH70749,EAX07158,BAB13931,AAI04939,AAI06065,AAI12016,Q5VVM0,Q5VVM3,Q9HAB8 Hs.710166 FLJ11838|MGC117357|MGC138220|RP11-163G10.1 protein-coding 1606579 PPEF1 protein phosphatase, EF-hand calcium binding domain 1 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. 9215685,15772651,15489334,14759258,12665801,12477932,12051765,11713293,10617768,9430683,9326663,16189514 5475 NM_006240,NM_152226,NM_152224,AL096700,CH471074,Z94056,AF023455,AF027977,AK290463,AK292235,AK315809,BC036026,X97867 NP_006231,NP_689412,NP_689410,EAW98943,EAW98944,EAW98945,EAW98946,EAW98947,EAW98948,EAW98949,AAB82795,AAC05825,BAF83152,BAF84924,BAF98700,AAH36026,CAA66461,O14829 Hs.211589 GDB:5582824 PP7|PPEF|PPP7C protein-coding 1316080 PPEF2 protein phosphatase, EF-hand calcium binding domain 2 This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. 1580863 9326663,12477932,12051765,11713293 5470 NM_006239,AC110615,CH471057,AF023456,AF023457,AL079280,BC113379,BX648754 NP_006230,EAX05752,EAX05753,EAX05754,EAX05755,AAB82796,AAB82797,AAI13380,O14830,Q14DF6,AAI48515 Hs.290873 GDB:9475257 protein phosphatase, ef hand calcium-binding domain 2 protein-coding 1319111 PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 12923177,7796809,18196592,17419996,17081983,16713569,16313174,16189514,15489334,15324660,14702039,12629171,12477932,11931740,9624153,8524829 8500 AB209314,AK123331,AK124621,BC034046,BX648037,D49354,U22815,U22816,NM_003626,NM_177423,AP000487,AP002336,CH471076 EAW74764,EAW74765,BAD92551,AAH34046,BAA08353,AAC50172,AAC50173,Q13136,Q59FZ5,ABM83327,NP_003617,NP_803172,EAW74763 Hs.530749 GDB:9955498 FLJ41337|FLJ42630|FLJ43474|LIP.1|LIP1|LIPRIN|MGC26800 protein-coding 1312803 PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein is most closely related to PPFIA1, a liprin family member known to interact with the protein phosphatase LAR. The expression of this gene is found to be downregulated by androgens in a prostate cancer cell line. 1580863 12923177,9624153,12629171,12477932,12119554,11931740 8499 NM_003625,AC011316,AC069228,AC078920,AC079363,AC079408,CH471054,AB210009,AF034799,AK123372,AK126971,BC104912 NP_003616,EAW97374,EAW97375,EAW97376,EAW97377,BAE06091,AAC26100,AAI04913,O75334,Q2M3G8,Q4LE62 Hs.506216 GDB:9955290 FLJ41378|MGC132572 protein-coding 1312318 PPFIA3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. 1580863 12923177,15489334,14702039,12477932,12168954,9734811,9624153 8541 NM_003660,AC008687,AC008891,AC096864,CH471177,AB014554,AF034800,AK001525,AK023850,AK025972,AK289757,BC021255,BC101518,BC101520,BU632015,CR606397 NP_003651,EAW52457,BAA31629,AAC26101,BAB14702,BAF82446,AAH21255,AAI01519,AAI01521,O75145,Q3MJA0 Hs.413748 GDB:9865301 KIAA0654|LPNA3|MGC126567|MGC126569 protein-coding 737078 PPFIA4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM] 1580863 12923177,9624153,16713569,14702039,14612982,12629171,12477932,10048485,14623284 8497 NM_015053,AC105940,AL451082,CH471067,AB020704,AF034801,AI341415,AK023365,AK124535,AK126185,AK126624,BC132923,BC132925,EF428334 NP_055868,EAW91459,EAW91460,EAW91461,EAW91462,BAA74920,AAC26102,BAC86617,AAI32924,AAI32926,ABR09268,O75335,Q5VV84,Q5VV85 Hs.153648 GDB:9955285 protein-coding 1320664 PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 17353931,9624153,17081983,15489334,15324660,12477932,12168954,11836260,10574462,15778465 8496 NM_003622,NM_177444,AC009509,AC068794,AC087257,CH471094,AB033056,AB049149,AF034802,AJ276680,AK000807,BC001560,BC022873,BC046159,BC050281,BM272389,BX648761,CR622010 NP_003613,NP_803193,EAW96558,EAW96559,EAW96560,EAW96561,EAW96562,BAA86544,BAB39690,AAC26103,CAB77544,AAH22873,AAH46159,AAH50281,Q05CN4,Q86W92 Hs.172445 GDB:9955282 L2|hSGT2|hSgt2p protein-coding 1316733 PPFIBP2 PTPRF interacting protein, binding protein 2 (liprin beta 2) PPFIBP2, or liprin-beta-2, belongs to the liprin-beta family. See liprin-beta-1 (MIM 603141) for background on liprins.[supplied by OMIM] 1580863 9624153,16344560,16189514,15489334,14702039,12477932,15778465 8495 NM_003621,AC104237,AC107884,CH471064,AF034803,AK001131,AK025337,AK097449,AL834426,BC021026,BC021714,BC031865,CR749258,DA339729 NP_003612,EAW68652,EAW68653,EAW68654,AAC26104,CAD39087,AAH21714,AAH31865,CAH18114,Q49AS0,Q68DV6,Q8ND30,ABM82556,ABM85746 Hs.655714 GDB:9955279 Cclp1|DKFZp781K06126|MGC42541 protein-coding 1353235 PPH1 primary pulmonary hypertension 1 9193425 5477 GDB:1381541 1343487 PPH2 primary pulmonary hypertension 2 89873 GDB:11507442 1314694 PPHLN1 periphilin 1 The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 17081983,16964243,16117785,15489334,15474462,15383276,14702039,12853457,12477932,12366696,12087473,11042152 51535 AF151040,AF151066,AK000186,AK055690,AK056622,AK124921,AK129910,AY039238,AY157850,BC015322,BC025306,BC039832,BC040449,BQ081957,BX647697,CA444170,CF242917,CR601682,NM_016488,NM_201515,NM_201440,NM_201439,NM_201438,AC079601,AC079684,CH471111,CR612564,CR621833,R89350 EAW57852,EAW57853,AAF36126,AAF36152,BAA90996,BAB70985,BAC85995,AAK68657,AAO16497,AAH25306,AAH39832,NP_057572,NP_958923,NP_958848,NP_958847,NP_958846,EAW57845,EAW57846,EAW57847,EAW57848,EAW57849,EAW57850,EAW57851,Q6ZV68,Q8NEY8 Hs.444157 GDB:11511069 HSPC206|HSPC232|MGC48786 protein-coding 731273 PPIA peptidylprolyl isomerase A (cyclophilin A) This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. 2001362,1989998,1946361,1896075,1715516,1602151,10581250,16815734,9546659,16571786,16120388,16785541,16643975,16203999,16199531,15688292,15782160,16275650,16273344,16189514,16169070,16097034,15952740,15845542,15772070,15680395,15596813,15489334,15388255,15358143,15311922,15229879,15147195,15130913,15111303,15028279,14716299,14526201,12932580,12897779,12881523,12881522,12859974,12810862,12788626,12730686,12707923,12668872,12665801,12634401,12547912,12477932,12477877,12357034,12218175,12210730,12210402,12208976,12207006,12181673,12167617,12032547,12009870,11929983,11859194,11836403,11830645,11790298,11581426,11379967,11337467,11312344,10794694,10704338,10208939,10208938,10096576,2644542,11250896,12091904,2179953,16291214,7590732,16780588,1560526,15098018,11943775,18321308,17927958,17919644,17897064,17678621,17590083,17522232,17038183,16916647,16901758,16885564,16703398,16584201,16501094,7657784,7572395,7543589,3297675,2197089,10026140,9875332,9769216,9658084,9636359,9573245,9557731,9420228,9385632,9380739,9337866,9305737,9299338,9261445,9261419,9223641,9129655,9032343,9016720,8980234,8980222,8976380,8830660,8806510,8764025,8709190,8676452,8676442,8662505,8659916,8652511,8648689,8648687,8513493,8421501,8421500,8263916,7969495,7969494,7884893,7829860 5478 NM_021130,AC013436,AY739283,CH236960,X52851,AF022115,AK026569,AK130101,AK290085,AK290851,AK293003,AU100120,BC000689,BC003026,BC005320,BC005982,BC007104,BC013915,BC018843,BC037419,BC073992,BC093076,BC106030,BM806224,BM909285,BU786475,BX347265,BX408703,CD014106,CR456707,CR594762,CR603867,CR609623,CR609814,CR613992,CR618683,CR626590,Y00052 CAA68264,P62937,Q567Q0,Q71V99,ABM83551,ABM86791,NP_066953,AAU13906,CAA37039,AAO64722,BAF82774,BAF83540,BAF85692,AAH00689,AAH03026,AAH05320,AAH05982,AAH07104,AAH13915,AAH73992,AAH93076,AAI06031,CAG32988 Hs.356331,Hs.598115 GDB:127769 CYPA|CYPH|MGC117158|MGC12404|MGC23397 peptidylprolyl isomerase a protein-coding 1342622 PPIAL peptidylprolyl isomerase A (cyclophilin A)-like 170536 NG_001566,AL021395 GDB:11507444 dJ269M15.1 pseudo 1602268 PPIAL3 peptidylprolyl isomerase A (cyclophilin A)-like 3 10830953 653214 NG_005752,AP001538,AP001674 PPIA3L pseudo 1606439 PPIAL4 peptidylprolyl isomerase A (cyclophilin A)-like 4 11948409 164022 NM_178230,AL022240,AL451058,BX248398,AB084917 NP_839944,CAB46877,CAH71953,CAI18814,BAB92073,A2BFH1,Q9Y536 Hs.573713 COAS2|MGC163248|MGC163250 protein-coding 1353405 PPIAP peptidylprolyl isomerase A (cyclophilin A), pseudogene 10830953 54037 NG_000914,AP000957,AP001680 GDB:10796400 pseudo 1350778 PPIAP10 peptidylprolyl isomerase A (cyclophilin A) pseudogene 10 9671742 140913 NG_001008,AL354993 GDB:9958922 CRP|PPIAL2|PPIP10|dJ823G15.1 peptidylprolyl isomerase (cyclophilin) pseudogene 10 pseudo 1349661 PPIAP11 peptidylprolyl isomerase A (cyclophilin A) pseudogene 11 2197089 5483 NG_001177,AC114969,X52856 GDB:128065 PPIP1 peptidylprolyl isomerase (cyclophilin) pseudogene 1 pseudo 1347945 PPIAP13 peptidylprolyl isomerase A (cyclophilin A) pseudogene 13 2197089 5485 NG_005167,AL392111,X52853 GDB:132158 PPIP3 peptidylprolyl isomerase (cyclophilin) pseudogene 3 pseudo 1345393 PPIAP14 peptidylprolyl isomerase A (cyclophilin A) pseudogene 14 2197089 5486 NG_005168,AP005138,X52854 GDB:132159 PPIP4 peptidylprolyl isomerase (cyclophilin) pseudogene 4 pseudo 1353250 PPIAP15 peptidylprolyl isomerase A (cyclophilin A) pseudogene 15 2197089 5487 NG_005169,AC092905,X52855 GDB:132161 PPIP5 peptidylprolyl isomerase (cyclophilin) pseudogene 5 pseudo 1350563 PPIAP16 peptidylprolyl isomerase A (cyclophilin A) pseudogene 16 2197089 5488 NG_005170,AC099777,X52857 GDB:132162 PPIP6 peptidylprolyl isomerase (cyclophilin) pseudogene 6 pseudo 1352866 PPIAP17 peptidylprolyl isomerase A (cyclophilin A) pseudogene 17 170540 NG_001049,AL161941 GDB:11507454 PPIP11|bA494B22.1 peptidylprolyl isomerase (cyclophilin) pseudogene 11 pseudo 1625850 PPIAP18 peptidylprolyl isomerase A (cyclophilin A) pseudogene 18 9721214 729673 NG_006115,AC098649,AF026688 AAC34969,O75320 pseudo 1626556 PPIAP19 peptidylprolyl isomerase A (cyclophilin A) pseudogene 19 390006 XM_001715938,XM_372328,XM_001130327 XP_001130327,XP_001715990,XP_372328 Hs.527742 bA108K1.2 protein-coding 1343959 PPIAP2 peptidylprolyl isomerase A (cyclophilin A) pseudogene 2 170537 NG_001048,AL353812 GDB:11507448 bA384D7.2 pseudo 1345438 PPIAP3 peptidylprolyl isomerase A (cyclophilin A) pseudogene 3 170539 NG_001014,AL109614 GDB:11507450 bA425M5.2 pseudo 1353009 PPIAP4 peptidylprolyl isomerase A (cyclophilin A) pseudogene 4 122552 NG_002483,AL109628 pseudo 1348915 PPIAP5 peptidylprolyl isomerase A (cyclophilin A) pseudogene 5 122842 NG_002484,AL359219 pseudo 1347833 PPIAP6 peptidylprolyl isomerase A (cyclophilin A) pseudogene 6 2197089 319128 NG_002506,AL122013,X52852 pseudo 1352715 PPIAP7 peptidylprolyl isomerase A (cyclophilin A) pseudogene 7 2197089 5489 NG_005171,AL109741,X52858 GDB:132163 PPIP7 peptidylprolyl isomerase (cyclophilin) pseudogene 7 pseudo 1343272 PPIAP8 peptidylprolyl isomerase A (cyclophilin A) pseudogene 8 341457 NG_006121,AC013283 GDB:132859 PPIP8 peptidylprolyl isomerase (cyclophilin) pseudogene 8 pseudo 1345892 PPIAP9 peptidylprolyl isomerase A (cyclophilin A) pseudogene 9 9689108,8824804 5491 NG_001025,AC006046,AL662847,AL663061,BX001040 GDB:9834321 PPIP9 peptidylprolyl isomerase (cyclophilin) pseudogene 9 pseudo 732990 PPIB peptidylprolyl isomerase B (cyclophilin B) The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. 1580863 2000394,1530944,17588944,17081065,16713569,15989969,15952740,15764595,15635413,15489334,14729611,12477932,12475965,12397072,11997457,11955071,11867726,11688976,10935542,10096576,10026140,9378502,9045699,9032343,8513493,8206968,8197205,7909608,7829860,7522304,2040592,1710767,1505219,1286667,12181673,9546659,17353931,16189514 5479 NM_000942,AC100840,AY962310,CH471082,CS208051,AK291149,BC001125,BC008848,BC020800,BC032138,BQ931949,CR456829,CR591528,CR595940,CR599100,CR616922,CR617864,M60457,M60857,M63573 NP_000933,AAX44050,EAW77669,CAJ44951,BAF83838,AAH01125,AAH08848,AAH20800,AAH32138,CAG33110,AAA35733,AAA52150,AAA36601,P23284,Q6IBH5,ABM83215,ABM86414 Hs.434937 GDB:127610 CYP-S1|CYPB|MGC14109|MGC2224|SCYLP cyclophilin b protein-coding 1344607 PPIC peptidylprolyl isomerase C (cyclophilin C) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. 1580863 1652374,16713569,15489334,12477932,10077627,9045699,8341703,8031755,7909608,1383094 5480 EF506885,AK290321,BC002678,BG721394,BU075157,BX472017,CB963241,CR592786,S71018,NM_000943,AC022116,AC106786,CH471086 EAW48879,ABO43038,BAF83010,AAH02678,AAB31350,P45877,NP_000934,EAW48878 Hs.110364 GDB:136196 CYPC|MGC3673 protein-coding 1342741 PPID peptidylprolyl isomerase D (cyclophilin D) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. 1580699,1580863 7744028,9660753,18076075,16650407,16551620,15761153,15497503,15489334,15033717,14729611,12665801,12477932,12149099,12145316,11525244,9195923,8889548,8812478,8509368,1544925,9222609 1580699 5481 CR622611,CR625064,L11667,NM_005038,NG_007078,AC107219,AY714221,CH471056,D63861,BC014893,BC030707,BG699755,BU726810,CR542081,CR596600 AAA35731,Q05DH6,Q08752,Q6FGM6,ABM82488,ABM85675,NP_005029,AAT97986,EAX04853,BAA09923,AAH14893,AAH30707,CAG46878 Hs.581725 GDB:207270 CYP-40|CYPD|MGC33096 protein-coding 1322860 PPIE peptidylprolyl isomerase E (cyclophilin E) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities and also exhibit RNA-binding activity. Three alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 11313484,9747881,18258190,16710414,16189514,15489334,14702039,12477932,11991638,8977107 10450 NM_006112,NM_203457,AL033527,AL035404,AL049824,CH471059,AF042385,AF042386,AF104012,AF104013,AI079772,AK094660,NM_203456,AK130628,AK293094,AL833576,BC004898,BC008451,BC107736,BU179717,BU196539,CA445146,CR592103,CR595696,CR617834,CR625617,DQ160195 NP_982281,NP_006103,NP_982282,CAI19409,CAI19410,CAI19576,CAI19577,CAI19578,CAI19579,CAI19347,CAI19348,CAI19349,CAI19350,EAX07255,EAX07256,AAC00006,AAC00007,AAD19906,AAD19907,BAF85783,AAH04898,AAH08451,AAI07737,AAZ93379,Q3S611,Q5TGA2,Q5TGA3,Q9UNP9 Hs.709377 GDB:9957047 CYP-33|MGC111222|MGC3736 protein-coding 1354243 PPIF peptidylprolyl isomerase F (cyclophilin F) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. 1580863 1744118,15635413,15489334,15164054,12975309,12477932,12077116,11790298,10903836,10647893,9874241 10105 NM_005729,AL133481,AL391665,CH471083,AL832720,AY358854,BC005020,BC013204,BC110299,BE791220,CR594186,CR595750,CR596778,CR596917,CR600263,CR600630,CR601435,CR607225,CR608381,CR608435,CR610799,CR613389,CR614302,CR618101,CR619563,CR620127,CR623400,CR624839,CR626335,M80254 Q2YDB7,Q6UWC4,NP_005720,CAH72725,CAI40994,EAW54645,EAW54646,EAW54647,EAW54648,AAQ89213,AAH05020,AAI10300,AAA58434,P30405 Hs.381072 GDB:9958920 CYP3|Cyp-D|FLJ90798|MGC117207 protein-coding 731455 PPIG peptidylprolyl isomerase G (cyclophilin G) 1580863 9153302,17081983,15489334,15358154,15324660,15302935,15016823,12477932,8973360,16189514 9360 NM_004792,AC016772,AC093899,CH471058,BC001555,BC063711,BC073875,BC109373,BC111693,BG615922,CA418130,U40763,X99717 NP_004783,AAY24233,AAY24119,EAX11266,EAX11267,EAX11268,EAX11269,EAX11270,AAH01555,AAH63711,AAH73875,AAI09374,AAI11694,AAB40347,CAA68053,Q13427,Q2NKQ6,Q32LZ0,Q53R40,Q53SN4,Q6GMS9,Q6P432 Hs.470544 GDB:9956062 CARS-Cyp|CYP|MGC133241|SRCyp matrin cyclophilin (matrin-cyp) protein-coding 1347300 PPIH peptidylprolyl isomerase H (cyclophilin H) The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. 1580863 9570313,15635413,15489334,12907720,12875835,12477932,11823439,10713041,9404889,16189514 10465 NM_006347,AC098484,CH471059,AF016371,AF036331,BC003412,BT019343,BU955702,CR541899,CR541920 NP_006338,EAX07151,EAX07152,EAX07153,EAX07154,EAX07155,EAX07156,AAC51927,AAC60793,AAH03412,AAV38150,CAG46697,CAG46718,O43447,Q6FH36,Q6FH57,ABM81897,ABM85072 Hs.256639 GDB:11507452 CYP-20|CYPH|MGC5016|SnuCyp-20|USA-CYP peptidyl prolyl isomerase h (cyclophilin h) protein-coding 1353678 PPIHP1 peptidylprolyl isomerase H (cyclophilin H) pseudogene 1 246731 NG_001586,AP000907,AP002007,AY425814 pseudo 1344032 PPIHP2 peptidylprolyl isomerase H (cyclophilin H) pseudogene 2 404199 NG_004860,AY425815 pseudo 1319281 PPIL1 peptidylprolyl isomerase (cyclophilin)-like 1 This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. 1580863 16595688,15772761,15489334,14574404,12975309,12477932,11991638,10810093,10072585,9647638,8978786 51645 NM_016059,AF090992,AL122034,CH471081,CQ756576,Z85996,AF151882,AK026636,AY359032,BC003048,CR590050,CR590493,CR591101,CR592464,CR611473 NP_057143,CAI23296,EAX03916,EAX03917,EAX03918,CAF32598,CAI20894,AAD34119,AAQ89391,AAH03048,Q5TDC9,Q9Y3C6,ABM83439,ABM86653 Hs.27693 GDB:635877 CGI-124|CYPL1|MGC678|PPIase|hCyPX protein-coding 1346840 PPIL1P1 peptidylprolyl isomerase (cyclophilin)-like 1 pseudogene 1 9847074 150947 NG_001555,AC011742 pseudo 1319848 PPIL2 peptidylprolyl isomerase (cyclophilin)-like 2 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 8660300,16344560,15946952,15489334,15461802,14702039,12477932,10591208,8889548 23759 NM_148175,NM_148176,AP000553,CH471095,NM_014337,AA743164,AF320072,AK097249,AK127259,AK289545,AL702046,BC000022,BC028385,BM981665,CR456548,U37219,U37220,U37221,CR600614,CR605739,CR611119,DA863607 NP_055152,NP_680480,NP_680481,EAW59469,EAW59470,EAW59471,EAW59472,EAW59473,EAW59474,EAW59475,EAW59476,AAK07635,BAF82234,AAH00022,AAH28385,AAC50376,AAC50377,AAC50378,Q13356,Q9BZH8,CAK54579,CAK54878,ABM82585,ABM85772,CAG30434 Hs.438587 GDB:10795327 CYC4|CYP60|FLJ39930|MGC33174|MGC787|hCyP-60 protein-coding 1350391 PPIL3 peptidylprolyl isomerase (cyclophilin)-like 3 This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Transcript variants derived from alternative splicing and/or alternative polyadenylation exist; some of these variants encode different isoforms. 1302302 16510998,16189514,15989758,15815621,15735342,15489334,14702039,12477932,11991638,11435694 1302302 53938 NM_131916,NM_032472,NM_130906,AC005037,CH471063,AF146799,AF251049,AF271652,AF414127,AY257468,BC007693,BC031679 NP_572028,NP_115861,NP_570981,AAY14723,EAW70220,EAW70221,EAW70222,EAW70223,AAO64723,AAK34939,AAG44766,AAP97286,AAP13527,AAH07693,Q86UR0,Q9H2H8 Hs.121076 GDB:10796402 CYPJ protein-coding 1322302 PPIL4 peptidylprolyl isomerase (cyclophilin)-like 4 This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. 17081983,15489334,15231748,14702039,14574404,12747765,12477932,11978968,16189514 85313 NM_139126,AL078581,AL357619,CH471051,AF068298,AF308286,AF357880,AK092069,BC016984,BC020986,BC064134,BC107684,BX537536,CR613874 NP_624311,CAI19508,CAI16470,CAI16471,EAW47799,EAW47800,AAF65187,AAG48254,AAM63961,AAH16984,AAH20986,AAH64134,AAI07685,CAD97776,Q32Q83,Q6P392,Q8WUA2,Q96AL2,Q9H287,Q9P1R3 Hs.593411 GDB:11508452 HDCME13P protein-coding 1322717 PPIL5 peptidylprolyl isomerase (cyclophilin)-like 5 The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. 15489334,12477932,11804328 122769 NM_152329,NM_203467,AL139099,CH471078,AA742244,AY052405,BC030142,BC064133,BC093697,BC107888,BC112241,BC139921,NM_203466,BI825814,BI826606,BI829295,BQ059807,BX248298,BX648029,CR604479,CR605212,CR607581,CR607686,CR611296 Q6P393,Q96L50,AAI46426,AAI48860,ABM83195,ABM86396,NP_982291,NP_689542,NP_982292,EAW65761,EAW65762,EAW65763,EAW65764,AAL11430,AAH30142,AAH64133,AAH93697,AAI07889,AAI12242,AAI39922,CAD62625,CAH10374,Q32Q17,Q52M24,Q6AWA7 Hs.451090 4-1BBLRR|LRR-1|MGC20689 peptidylprolyl isomerase (cyclophilin) like 5 protein-coding 1352974 PPIL6 peptidylprolyl isomerase (cyclophilin)-like 6 1580863 15489334,14574404,12477932 285755 NM_173672,NM_001111298,AL109947,AL359711,CH471051,AI052546,BC026359,BC026360,BC038716,BQ012747,DC419072,DQ363562,DQ423529 NP_775943,NP_001104768,CAI23335,CAI40695,EAW48347,AAH26359,AAH26360,AAH38716,ABC88651,ABD83948,Q5TED2,Q8IXY8,Q8TAE1 Hs.32234 MGC27054|MGC27056|MGC41939|bA425D10.6|dJ919F19.1 protein-coding 1345594 PPIP2 peptidylprolyl isomerase (cyclophilin) pseudogene 2 2197089 5484 GDB:132157 1313581 PPL periplakin The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. 1580863 12244133,9521878,17662978,16565220,16400690,15654952,15590649,15500642,15302935,15229321,15033990,12810704,12477932,12432088,12366696,11854008,11062259,10379702,10051401,9628581,9570964,9412476,8889548,14625392,15337775,12853457 5493 NM_002705,AC027687,AF040999,AF041000,AF041001,AF041002,AF041003,AF041004,CH471112,AB011140,AF001691,AF013717,AW582622,BC114620,BM673980 NP_002696,AAD17459,EAW85248,BAA25494,AAC17738,AAC39668,AAI14621,O60437,Q14C98 Hs.192233 GDB:6837500 KIAA0568|MGC134872 protein-coding 731572 PPM1A protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding two distinct isoforms have been described. 1580863 16541025,17353931,1311954,12761501,17729405,16931515,16751101,15728831,15489334,15016818,14702039,14663150,12514180,12477932,11959144,11479720,10644691,10580002,10480873,10400656,9707433,9003755,8386634,16189514 5494 NM_021003,NM_177951,AL132778,AL157756,CH471061,AF070670,AK097843,AY236965,BC026691,BC063243,BQ876369,CR596529,CR604498,CR610726,S87759,NM_177952 NP_808821,NP_066283,NP_808820,EAW80774,EAW80775,EAW80776,EAW80777,AAC28354,AAQ20086,AAH26691,AAH63243,AAB21784,P35813,Q5JB49,ABM82692,ABM85876 Hs.592298 GDB:136855 MGC9201|PP2C-ALPHA|PP2CA protein phosphatase 1a, magnesium dependent, alpha isoform protein-coding 733846 PPM1B protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. 1580863 17353931,9684878,15913950,15489334,14702039,14585847,12477932,12045112,11563908,11524703,11104763,10934208,10580002,10480873,16189514 5495 NM_177968,NM_001033557,NM_002706,NM_177969,NM_001033556,AC013717,AC019129,CH471053,AA769851,AF136972,AF294792,AJ005801,AJ271832,AJ271835,AK056009,AK291214,AL833035,BC012002,BC064381,BF979498,BQ773881,CR617365,DQ023508,DQ023509,DQ023510,DQ023511 NP_808907,NP_001028729,NP_002697,NP_808908,NP_001028728,AAX88954,EAX00280,EAX00281,EAX00282,EAX00283,AAG49433,AAG02232,CAA06704,CAC27992,CAC27993,BAF83903,CAH56319,AAH12002,AAH64381,AAY89639,AAY89640,AAY89641,AAY89642,O75688,Q461Q2,Q4J6C0,Q4J6C1,Q4J6C2,Q658R4,Q96ER6 Hs.416769 GDB:136856 MGC21657|PP2C-beta-X|PP2CB|PP2CBETA|PPC2BETAX protein phosphatase 1b, magnesium dependent, beta isoform protein-coding 1313498 PPM1D protein phosphatase 1D magnesium-dependent, delta isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. 1599171,1580863 17936559,9177166,18328948,17977650,17939684,17685927,17016428,16949371,16936775,16912047,16897432,16798742,16352595,16314645,16311512,16254685,15870257,15807522,15489334,15327777,15054481,12878157,12477932,12185196,12021785,12021784,11809801,11101529,11101524,7649987,7566098,16189514 1599171 8493 NM_003620,AC011921,AC110602,AC111155,CH471179,AA326266,AU280469,BC016480,BC032826,BC033893,BC042418,BC060877,BT009780,CR618625,U78305 NP_003611,EAW51408,EAW51409,AAH16480,AAH33893,AAH42418,AAH60877,AAP88782,AAB61637,O15297,Q53XP4,Q6P991,Q8IVR6,Q8NEA7,ABM81973,ABW03353 Hs.591184 GDB:9955274 PP2C-DELTA|WIP1 protein-coding 1350294 PPM1E protein phosphatase 1E (PP2C domain containing) The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase was identified as an interacting protein of Rho guanine nucleotide exchange factors (PIX). PIX proteins are regulators of p21/Cdc42/Rac1-activated kinase 1 (PAK1), a protein kinase mediating biological effects downstream of Rho GTPases. This phosphatase has been shown to block the effects of PAK, and thus inhibit actin stress fiber breakdown and morphological changes driven by cell division cycle 42 (CDC42). 1580863 15680915,11864573,10470851 22843 NM_014906,AC025521,AC100832,CH471109,AB028995,AF260269,AF520614,AK289966,BC151228,CR749253 NP_055721,EAW94429,BAA83024,AAF70325,AAM76058,BAF82655,AAI51229,CAH18109,Q8WY54 Hs.245044 DKFZp781F1422|KIAA1072|POPX1|PP2CH protein-coding 737169 PPM1F protein phosphatase 1F (PP2C domain containing) The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. 1580863 16344560,15140879,12539042,12477932,11864573,11559703,9074928,7584028,7584026 9647 NM_014634,AP000555,CH471095,D86995,AF305840,AF520615,AK126377,AK291628,AU127806,BC071989,BC105599,CA425300,CR601797,CR617100,CR625942,D13640 Q6IPC0,NP_055449,EAW59483,EAW59484,EAW59485,BAA19990,AAL15579,AAM76059,BAF84317,AAH71989,AAI05600,BAA02803,P49593,Q0VGL7 Hs.112728 CaMKPase|FEM-2|KIAA0015|POPX2|hFEM-2 protein-coding 732734 PPM1G protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. 1580863 9276438,9271424,17984321,17572683,17318175,17074886,17054950,16343532,15489334,14663150,12477932,9887102 5496 NM_177983,NM_002707,AC074117,CH471053,AB209197,AI623188,AI879284,AK127593,BC000057,BC007361,BC014386,BC015048,BC022061,BT007454,CR457059,CR605593,CR609632,Y13936 NP_817092,NP_002698,AAY14846,EAX00582,BAD92434,AAH00057,AAH07361,AAH14386,AAH22061,AAP36122,CAG33340,CAA74245,O15355,Q59GB2,Q6IAU5,Q6PJK3,Q96IN7,ABM83076,ABM86272 Hs.699225 GDB:7087504 MGC1675|MGC2870|PP2CG|PP2CGAMMA|PPP2CG protein-coding 1319913 PPM1H protein phosphatase 1H (PP2C domain containing) 1580863 16344560,14702039,12477932,10574461 57460 NM_020700,AC023359,AC025264,AC048341,AB032983,AB084258,AK023315,BC040177,AC078814,CH471054,BC157843,DA396561 NP_065751,EAW97112,BAA86471,BAG16181,AAH40177,AAI57844,Q9ULR3,AAI60095 Hs.435479 ARHCL1|FLJ13253|KIAA1157|URCC2 protein-coding 1603861 PPM1J protein phosphatase 1J (PP2C domain containing) This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. 12477932,11007961,2557326,14702039,14654243,12633878 333926 AL603832,NM_005167,AK093270,AL133644,AL545356,BC011803,BC064628,BC073828,CR613350 NP_005158,CAI14062,CAB63764,AAH11803,AAH73828,Q5JR12 Hs.655231 DKFZp434P1514|FLJ35951|MGC19531|MGC90149|PP2CZ|PP2Czeta|PPP2CZ|RP11-426L16.5 protein-coding 1353112 PPM1K protein phosphatase 1K (PP2C domain containing) 737633 17374715,17336929,16685424,15815621,15489334,14702039,12477932,9847074 737633 152926 NM_152542,AC107067,AC108213,CH471057,AF351614,AK054678,AL834271,AY157615,AY435431,AY994097,BC020850,BC037552,BC041350,AL834167 NP_689755,AAY41021,EAX06014,EAX06015,EAX06016,AAN76514,BAB70790,CAD38946,AAO17296,AAR06213,AAX77016,AAH20850,AAH37552,AAH41350,Q8N3J5,CAD38869 Hs.291000 DKFZp667B084|DKFZp761G058|PP2Cm|PTMP|UG0882E07 protein-coding 1313118 PPM1L protein phosphatase 1 (formerly 2C)-like PPM1L, or PP2CE, belongs to the the PP2C group of serine/threonine phosphatases, which are distinguished from other phosphatases by their structure, absolute requirement for Mg(2+) or Mn(2+), and insensitivity to okadaic acid. PP2Cs regulate stress-activated protein kinase (SAPK; see MIM 601158) signaling cascades that respond to extracellular stimuli (Jin et al., 2004 [PubMed 15560375]).[supplied by OMIM] 17456047,15560375,14702039,12556533,12477932 151742 NM_139245,AC016920,AC021649,AC069224,AC117413,CH471052,AK055115,AY337264,BC090872,BC104885,BC104887 NP_640338,EAW78626,BAB70856,AAR00269,AAI04886,AAI04888,Q2M3J2,Q5SGD2 Hs.389027 MGC132545|MGC132547|PP2C-epsilon|PP2CE|PPM1-LIKE protein-coding 1602186 PPM1M protein phosphatase 1M (PP2C domain containing) 15489334,14702039,14654243,12477932 132160 NM_144641,NM_001122870,AC006252,CH471055,AI141068,AK056894,AK096681,AK129647,AL832484,BC009644,CR601628 NP_653242,NP_001116342,EAW65197,EAW65198,EAW65199,EAW65200,EAW65201,BAB71302,BAC04839,BAC85206,AAH09644,Q96MI6 Hs.373560 FLJ32332|PP2C-eta|PP2CE|PP2Ceta protein-coding 731545 PPM2C protein phosphatase 2C, magnesium-dependent, catalytic subunit This gene encodes a protein similar to members of the protein phosphatase 2C (PP2C) family. Studies of the rat counterpart of this protein suggested that this protein may reside within the mitochondrial matrix space and be responsible for dephosphorylation and reactivation of the pyruvate dehydrogenase complex (PDC). 1642637 16188909,15897476,15855260,15489334,14702039,14527413,12477932,11577086,10931946,9651365,8889548,8396421,7782287,7757816,7566098,1327585,172850 1642637 54704 AL134195,BC047619,BC064978,BC098343,BM973633,BQ422289,NM_018444,AC084346,CH471060,AF155661,AK022057,AK057079,AK126862 AAH47619,AAH64978,AAH98343,Q6P1N1,Q9P0J1,NP_060914,EAW91704,EAW91705,EAW91706,AAF67480 Hs.22265 GDB:364047 FLJ32517|MGC119646|PDH|PDP|PDP1|PDPC protein-coding 1605082 PPME1 protein phosphatase methylesterase 1 Protein phosphatase methylesterase-1 catalyzes the demethylation of the protein phosphatase-2A catalytic subunit (PPP2CA; MIM 176915) (Ogris et al., 1999 [PubMed 10318862]).[supplied by OMIM] 10318862,17803990,15489334,14702039,12665801,12477932,9373149,8125298 51400 AP000577,AP002392,CH471076,AF111853,AF157028,AK001381,AK022725,AK025414,AK025879,AK095005,AK123288,AK225647,BC003046,BC050705,BX537528,CR602501,CR602757,CR609996,CR623535,NM_016147 NP_057231,EAW74932,AAF16692,AAD44976,BAA91661,BAC85574,AAH03046,AAH50705,Q9Y570,ABM83274,ABM86704 Hs.503251 FLJ22226|PME-1 protein-coding 1321506 PPOX protoporphyrinogen oxidase This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. 1599172,1599174,1599176,1599180,1580863,1578396 7713909,8771201,18191920,16947091,16621625,15489334,14702039,14669009,14535846,12922165,12556518,12477932,12357337,12017191,11350188,11298551,11286631,10870850,10756096,10486317,10457135,9811936,9763307,9074790,9003509,8852667,8806618,8673113,8575762,8554330,8288631,16189514 1599172,1599174,1599176,1599180 5498 NM_000309,NM_001122764,AF215863,AF215864,AF321821,AL590714,AY032687,AY032688,CH471121,AI357309,AK094855,AU076582,BC002357,BX384814,CR594122,CR595368,CR604029,CR606372,CR609680,CR611657,CR613738,CR615446,CR618454,CR623872,CR623976,CR625269,D38537,DC329287,U26446 NP_000300,NP_001116236,AAG43994,AAG43995,AAK69607,CAH72144,AAK50376,AAK50375,EAW52635,EAW52636,EAW52637,EAW52638,EAW52639,EAW52640,EAW52641,AAH02357,BAA07538,P50336,Q5VTW8,Q96RP0,Q96SE3,Q96TC9,Q9H2U7,Q9H2U8,ABM83141,ABM86337,AAA67690 Hs.517373 GDB:118852 MGC8485|PPO|V290M|VP protein-coding 732541 PPP1CA protein phosphatase 1, catalytic subunit, alpha isoform The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. 737728,1580722,1580723 17274640,17511879,8392016,17630778,17435217,17202132,17030510,16874461,16619035,16564677,16550609,15635413,15492829,15489334,15231748,15107502,14702039,12931191,12926989,12925532,12914669,12788939,12624094,12477932,12438214,12393858,12370081,12226088,12221103,12138106,12115603,12065664,12052877,12036952,12036313,12024026,11959144,11839776,11588169,11551964,11390485,11076525,10995432,10880350,10827081,10811615,10807923,10571067,10504266,10358086,10087003,9843442,9461602,9282913,9108011,8889548,8384581,7736790,4092695,2161401,16131488,16048649,12788942,16189514,12724406,10209101,14743216,15761153,14645548 737728,1580722,1580723 5499 AK127616,AL557336,BC001888,BC004482,BC008010,BE278068,BE793459,BF526659,BG480286,BM799599,BM982080,BT006629,CR593308,CR594209,CR594609,CR595203,CR595463,CR596128,CR598698,CR600679,CR606688,CR607154,CR607708,CR607767,CR609547,CR609689,CR612914,CR613010,CR614126,CR616429,CR616849,CR618358,CR618441,CR618840,CR620164,CR621844,CR622044,CR623343,CR624648,CR626815,J04759,M63960,S57501,X70848,NM_206873,NM_001008709,NM_002708,AP003419,CH471076,AK098311 AAH01888,AAH04482,AAH08010,AAP35275,AAA36475,AAA36508,AAB26015,CAA50197,P62136,Q07161,NP_996756,NP_001008709,NP_002699,EAW74607,EAW74608,EAW74609,EAW74610 Hs.183994 GDB:120310 MGC15877|MGC1674|PP-1A|PPP1A protein-coding 731669 PPP1CB protein phosphatase 1, catalytic subunit, beta isoform The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. 17274640,17353931,17511879,18202305,16381901,16256067,15815621,15489336,15489334,15302935,15231748,14640981,12788939,12665801,12477932,12226088,12036313,11790298,11513739,11399775,11230166,11076863,10906760,9570949,9009195,8889548,8312365,7857673,7796987,12775419,16131488,16048649,16189514,14743216,15164081 5500 NM_002709,AC097724,CH471053,U11005,AF092905,AI147919,BC002697,BC012045,BE047402,BI551898,BM835970,BQ933435,NM_206876,BT019744,BU740022,BX477003,BX647295,BX647970,CB111140,CD656807,CD722576,CR542263,CR542285,CR592930,CR593644,CR601128,X80910 NP_996759,NP_002700,AAY24124,EAX00527,EAX00528,EAX00529,EAX00530,AAA85093,AAF01137,AAH02697,AAH12045,AAV38549,CAG47059,CAG47080,CAA56870,P62140,Q0JV10,CAL37650 Hs.591571,Hs.705383 GDB:136793 MGC3672|PP-1B|PPP1CD protein-coding 734001 PPP1CC protein phosphatase 1, catalytic subunit, gamma isoform 1580863 17274640,17511879,17996206,17936702,17215279,16826568,16201749,16131488,15635413,15489334,15231748,15028637,14640981,12788939,12477932,12374792,12226088,12221103,12138106,12036313,12016208,11856740,11790298,11588169,11551964,10807923,10637318,9606212,9414128,8914631,8549741,8394140,8111128,7556599,7500362,7499293,16048649,11564868,12147701,16189514 5501 NM_002710,AB030255,AC144522,CH471054,BC014073,CR602534,L07395,X74008 NP_002701,BAA82664,EAW97938,EAW97939,EAW97940,AAH14073,AAA19823,CAA52169,P36873,Q9UPN1 Hs.79081 GDB:135661 PPP1G protein-coding 732967 PPP1R10 protein phosphatase 1, regulatory (inhibitor) subunit 10 This gene encodes a protein with similarity to a rat protein that has an inhibitory effect on protein phosphatase-1 (PP1). The rat protein localizes to the nucleus and colocalizes with chromatin at distinct phases during mitosis. This gene lies within the major histocompatibility complex class I region on chromosome 6. 633715 9461602,17318220,17081983,16964243,15907195,14574404,12914669,12574161,12477932,15894402,15231748,9784381,9450550,8838313 633715 5514 NM_002714,AB088097,AB103603,AB202094,AL662800,AL662825,BA000025,BX248507,BX908728,CH471081,CR753328,CR759778,AJ544537,BC005267,BC150310,Y13247 NP_002705,BAC54929,BAF31264,BAE78613,CAI18160,CAI17838,BAB63324,CAI18567,CAQ07410,EAX03303,CAP58451,CAQ09403,CAD67521,AAH05267,CAA73697,Q2L6I0,Q58F28,Q96QC0 Hs.106019 GDB:9864401 CAT53|FB19|PNUTS|PP1R10 putative protein phosphatase 1 nuclear targeting subunit protein-coding 1344877 PPP1R10P protein phosphatase 1, regulatory (inhibitor) subunit 10 pseudogene 11948623 94296 GDB:11507456 1350582 PPP1R11 protein phosphatase 1, regulatory (inhibitor) subunit 11 This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. 1580863 17353931,9843442,17630778,17081983,15592455,15489334,14574404,12477932,9110174,8938444,8781118,8619474,8490624,7782091 6992 NM_021959,AB088087,AB202082,AL669914,AL671859,AL845439,AP000518,BX927229,CH471081,CR388205,CR759763,CR759960,U53588,X89902,AF070599,BC003144,BC102010,BC102011,BC104750,CB126242,CR625861,X81003 NP_068778,BAC54919,BAE78601,CAI18177,CAI18178,CAI17578,CAI17579,CAI18539,CAI18542,BAB63334,CAQ10493,EAX03253,EAX03254,CAQ06750,CAQ08160,CAQ09121,AAC52082,CAC16919,AAH03144,AAI02011,AAI02012,AAI04751,CAC16920,O60927,Q5SPM7,Q5SPN2,Q5SRK2 Hs.82887 GDB:666427 HCG-V|HCGV|MGC125741|MGC125742|MGC125743|TCTE5|TCTEX5 protein-coding 1349677 PPP1R11P1 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 1 11948623 94297 GDB:11507458 1345523 PPP1R11P2 protein phosphatase 1, regulatory (inhibitor) subunit 11 pseudogene 2 11948623 94298 GDB:11507460 1350163 PPP1R12A protein phosphatase 1, regulatory (inhibitor) subunit 12A Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. 1580863 17353931,18079119,18023418,17904578,17081983,15999227,15748895,15723050,15570572,15545284,15489334,15324660,15144186,14702039,12923170,12773565,12600888,12563012,12477932,12220642,11931630,11342221,11287000,11283607,11067852,10601309,10567269,10200412,10087910,9354661,9286714,9200713,1870098,880069,8662509 4659 NM_002480,AB042196,AC018476,AC073569,AC074270,CH471054,AF458589,AK057712,AY380574,BC000812,BC013941,BC040375,BC047898,BC062560,BC092481,BC111752,D87930 NP_002471,BAB39107,EAW97351,EAW97352,EAW97353,EAW97354,EAW97355,EAW97356,AAM49717,AAQ88438,AAH13941,AAH47898,AAH92481,AAI11753,BAA22378,O14974,Q96L23 Hs.49582 GDB:9786211 MBS|MGC133042|MYPT1 protein-coding 1319551 PPP1R12B protein phosphatase 1, regulatory (inhibitor) subunit 12B Myosin light chain phosphatase (MLCP) consists of three subunits- catalytic subunit, large subunit/myosin binding subunit (MBS) and small subunit (sm-M20). This gene is a multi-functional gene which encodes both MBS and sm-M20. MLCP regulates myosins and the dephosphorylation is enhanced by the presence of MBS. The sm-M20 is suggested to play a regulatory role in muscle contraction by binding to MBS. MBS is also encoded by another gene, myosin light chain phosphatase target subunit 1. sm-M20 shows higher binding affinity to this gene product than to myosin light chain phosphatase target subunit 2-MBS even though the two MBS proteins are highly similar. Although both MBSs increase the activity of MLCP, myosin light chain phosphatase target subunit 1-MBS is a more efficient activator. There are four alternatively spliced transcript variants described; two alter the MBS coding region and two alter the sm-M20 coding region of this gene. 1580863 9570949,16710414,16431080,15489334,12923170,12477932,11067852,10200412,10087910,9827534,9455484,16189514 4660 NM_032105,NM_002481,NM_032104,NM_032103,AC099336,AF324892,AL356953,AL589762,CH471067,AB003062,AB007972,AB050641,AB050642,AF324888,AL049388,AL050133,AL117460,BC034430,BC071166,BC110907,CR603869,CR606535,CR610980 NP_115288,NP_002472,NP_115287,NP_115286,AAK00336,CAI15934,CAI15935,EAW91416,EAW91417,EAW91418,EAW91419,EAW91420,EAW91421,EAW91422,EAW91423,EAW91424,EAW91425,BAA28376,BAB17610,BAB17611,AAK00337,AAH34430,AAH71166,AAI10908,O60237,Q2TAI8,Q5VUK3,Q6GQY8 Hs.444403 GDB:9844521 MGC131980|MGC87886|MYPT2 protein-coding 1603486 PPP1R12BP protein phosphatase 1, regulatory (inhibitor) subunit 12B Y-linked pseudogene 12815422 360021 NG_004755,AC024067 GDB:11507462 pseudo 1343542 PPP1R12C protein phosphatase 1, regulatory (inhibitor) subunit 12C 15469989,14506264,12923170,12477932,11399775,16189514 54776 NM_017607,AC005782,AC010327,CH471135,AB209452,AF312028,AK027086,AK129529,AL137618,BC008030,BC010628 NP_060077,EAW72332,EAW72333,EAW72334,EAW72335,BAD92689,AAG60045,BAB15651,BAC85179,CAB70844,AAH08030,Q96FN3,Q9BZL4,AAI56296 Hs.631579 GDB:11502850 DKFZp434D0412|p84 protein-coding 1351604 PPP1R12CP protein phosphatase 1, regulatory (inhibitor) subunit 12C pseudogene 11948623 114239 GDB:11502852 1345826 PPP1R13AP protein phosphatase 1, regulatory (inhibitor) subunit 13A pseudogene 11948623 94299 GDB:11507464 1312214 PPP1R13B protein phosphatase 1, regulatory (inhibitor) subunit 13B This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. 1580863 11684014,14729977,15782125,16314841,16139958,15757645,15731768,15231748,14702039,12508121,12477932,9872452,15706352 23368 NM_015316,AL049840,AL132712,CH471061,AB018314,AJ318887,AK021580,AK023188,AK125374,AK125913,AW295594,BC035446,BC047639,BC136527,CR621089,DB461586 NP_056131,EAW81845,EAW81846,EAW81847,BAA34491,CAC83011,BAC86342,AAI36528,Q6ZU84,Q96KQ4 Hs.709297 GDB:11502423 ASPP1|KIAA0771|p53BP2-like|p85 protein-coding 1347285 PPP1R13L protein phosphatase 1, regulatory (inhibitor) subunit 13 like IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM] 10336463,18289367,18275817,18201273,17906639,17570360,17391696,17222938,17131345,17081983,16964264,16964243,16817948,16690207,16139958,15885892,15489900,15489334,15607367,15231748,12524540,12477932,12134007,15558054 10848 AC092309,CH471126,DQ314886,AF078036,AF078037,AJ888472,AK130326,AY869712,BC001475,BC014499,BC020259,BC020589,BC032298,BC064913,DQ986418,NM_006663 NP_006654,EAW57343,EAW57344,EAW57345,ABC40745,AAD27004,AAD27005,CAI60219,BAC85327,AAW51146,AAH01475,AAH20589,AAH32298,AAH64913,ABK76301,Q6ZNZ8,Q8WUF5 Hs.466937 IASPP|NKIP1|RAI protein-coding 733523 PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A PPP1R14A is a phosphorylation-dependent inhibitor of smooth muscle myosin phosphatase (see MIM 603768). Inhibition leads to increased myosin phosphorylation and enhances smooth muscle contraction in the absence of increased intracellular Ca(2+) concentration.[supplied by OMIM] 17301291,17237191,16885985,15489334,15234908,15003508,12974676,12477932,12062430,11931393,11467857,10924361,10869555,9237662,8720121 94274 NM_033256,AC011479,AY050668,CH471126,AB056508,AB056509,AF123763,AY050670,BC021089,CR623926 NP_150281,AAL24445,EAW56764,EAW56765,BAB62502,BAB62503,AAP97242,AAL25828,AAH21089,Q96A00,ABM83056,ABM86250 Hs.631569 GDB:11502903 CPI-17|CPI17|PPP1INL protein-coding 1344402 PPP1R14B protein phosphatase 1, regulatory (inhibitor) subunit 14B 1580863 16964243,16341674,15522888,15489334,15083373,12477932,10737800,10606530,8838322 26472 NM_138689,AP001453,CH471076,X91192,AF318364,BC014522,BC071884,BC094817,BF155230,BM847221,BT009914,X91195 NP_619634,EAW74226,EAW74227,AAL55871,AAH14522,AAH94817,AAP88916,Q8WYT7,Q96C90 Hs.523760,Hs.596713 GDB:10796213 PHI-1|PLCB3N|PNG|SOM172 protein-coding 1353719 PPP1R14BP1 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 12477932,9556220 50516 NG_001274,AC002073,AF030942,BC008706 Hs.474596 GDB:10796215 PLCB3NP pseudo 1345421 PPP1R14BP2 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 2 11948623 94300 GDB:11507466 1348636 PPP1R14BP3 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 3 11948623 94301 GDB:11507468 1352099 PPP1R14BP4 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 4 11948623 94302 GDB:11507470 1342970 PPP1R14BP5 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 5 11948623 94303 GDB:11507472 735966 PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C 15489334,14702039,14574404,12747765,12477932,11948623,11812771,11564868 81706 NM_030949,AF407166,AL096708,AL138890,AL355497,CH471051,AF308297,AF407165,AK092697,AK096272,BC015773,CB994599,DR003369 NP_112211,AAL83507,CAI19346,CAH74129,EAW47770,EAW47771,AAG48264,AAL83506,AAH15773,Q8TAE6,ABM83123,ABM86318 Hs.486798 GDB:11507474 CPI17-like|KEPI|NY-BR-81 protein-coding 1350290 PPP1R14D protein phosphatase 1, regulatory (inhibitor) subunit 14D 1580863 15489334,14702039,12974676,12477932,11948623 54866 NM_017726,AC012476,CH471125,AK000258,AY050671,BC096716,BC098124,BC098150,BC098341 NP_060196,EAW92456,BAA91037,AAL25829,AAH96716,AAH98124,AAH98150,AAH98341,Q4V755,Q9NXH3 Hs.192927 GDB:11507476 CPI17-like|FLJ20251|GBPI-1|MGC119014|MGC119016 protein-coding 1342864 PPP1R15A protein phosphatase 1, regulatory (inhibitor) subunit 15A This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. 1580863 11564868,9153226,17273797,16455055,16344560,16337513,15541008,15231748,14718519,14702039,14635187,12813455,12724406,12556489,12477932,12168790,12016208,11517336,11104688,10631107,10490642,10434033,9413226,9373149,8125298,16189514 23645 NM_014330,AC026803,CH471177,AK001361,AK225632,BC003067,CR457259,CR591206,CR620407,CR623507,DA484808,U83981 NP_055145,EAW52409,BAA91649,AAH03067,CAG33540,AAC25631,O75807,ABM82781,ABW03442 Hs.631593 GDB:11502915 GADD34 protein-coding 1317432 PPP1R15B protein phosphatase 1, regulatory (inhibitor) subunit 15B 15231748,14702039,12477932,11948623,9373149,8125298 84919 NM_032833,AL606489,CH471067,AK023680,AK027650,AK222877,AL833746,BC065280,CR595060 NP_116222,CAI16570,EAW91511,BAB55266,BAD96597,CAH56240,AAH65280,Q5SWA1 Hs.304376 GDB:11507478 FLJ14744 protein-coding 1317459 PPP1R16A protein phosphatase 1, regulatory (inhibitor) subunit 16A 1580863 16169070,16920702,16189514,15489334,12477932,11948623,11336659 84988 NM_032902,AC084125,CH471162,AK090471,BC007854,BC049841,BC053506,BT006845,CR590987,CR609794 NP_116291,EAW82080,EAW82081,EAW82082,BAC03452,AAH07854,AAH49841,AAH53506,AAP35491,Q96I34 Hs.521937 GDB:11507480 MGC14333|MYPT3 protein-coding 1322272 PPP1R16B protein phosphatase 1, regulatory (inhibitor) subunit 16B The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. 1580863 12055102,15491607,12477932,12168954,11780052,10048485 26051 NM_015568,AL023803,AL031657,AL121889,CH471077,AB020630,AB177855,AF362910,AK026900,BC026224,BC131801,BC152467,CR610227 NP_056383,CAI19080,CAM27345,EAW76009,BAA74846,BAD66833,AAK52796,AAI31802,AAI52468,Q5W9G4,Q96T49 Hs.45719 GDB:11502421 ANKRD4|KIAA0823|TIMAP protein-coding 737038 PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A 1580863 11564868,8611507,15489334,15345721,15342556,12477932,9920093 5502 NM_006741,AC079310,CH471054,AK123969,AY063766,BC022470,BM876308,BP211831,CR457003,U48707 NP_006732,EAW96792,BAC85737,AAL48321,AAH22470,CAG33284,AAB02402,Q13522,Q6ZVX3 Hs.505662 GDB:136794 protein-coding 1342795 PPP1R1AP1 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 1 11948623 94304 GDB:11507482 1345017 PPP1R1AP2 protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2 11948623 94305 GDB:11507484 1347073 PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32) Midbrain dopaminergic neurons play a critical role in multiple brain functions, and abnormal signaling through dopaminergic pathways has been implicated in several major neurologic and psychiatric disorders. One well-studied target for the actions of dopamine is DARPP32. In the densely dopamine- and glutamate-innervated rat caudate-putamen, DARPP32 is expressed in medium-sized spiny neurons (Ouimet and Greengard, 1990 [PubMed 2191086]) that also express dopamine D1 receptors (Walaas and Greengard, 1984 [PubMed 6319627]). The function of DARPP32 seems to be regulated by receptor stimulation. Both dopaminergic and glutamatergic (NMDA) receptor stimulation regulate the extent of DARPP32 phosphorylation, but in opposite directions (Halpain et al., 1990 [PubMed 2153935]). Dopamine D1 receptor stimulation enhances cAMP formation, resulting in the phosphorylation of DARPP32 (Walaas and Greengard, 1984 [PubMed 6319627]); phosphorylated DARPP32 is a potent protein phosphatase-1 (see MIM 176875) inhibitor (Hemmings et al., 1984 [PubMed 6087160]). NMDA receptor stimulation elevates intracellular calcium, which leads to activation of calcineurin and dephosphorylation of phospho-DARPP32, thereby reducing the phosphatase-1 inhibitory activity of DARPP32 (Halpain et al., 1990 [PubMed 2153935]).[supplied by OMIM] 1580863 10604473,18270970,18199533,18058465,18055181,17948899,17695523,17618027,17521792,17492506,17290303,17171661,17117180,17027969,16750903,16061638,15489334,15345721,15188007,15010812,14991576,14702039,14508844,12477932,12124342,11134138,9920093,9373149,9108011,8125298,8120638,6319627,6087160,2557337,2191086,2153935,1791981,1721636,1663529 84152 NM_032192,NM_181505,AC087491,AF435975,CH471152,AF233349,AF435972,AF435973,AF435974,AF464196,AK024593,AK123112,AK123950,AK124417,AK127542,AK129537,AK225058,AY070271,BC001519,BT007076,BX648641,CR606470,CR621995 NP_115568,NP_852606,AAP35097,AAP35098,EAW60580,EAW60581,EAW60582,EAW60583,AAF43435,AAP35094,AAP35095,AAP35096,AAM76683,BAB14931,AAL59016,AAH01519,AAP35739,Q9NNW1,Q9UD71 Hs.286192 GDB:136795 DARPP-32|DARPP32|FLJ20940 protein-coding 1351328 PPP1R1C protein phosphatase 1, regulatory (inhibitor) subunit 1C 1580863 18310074,12477932,11948623 151242 NM_001080545,AC009962,AC011291,AC064837,CH471058,AF494535,AK129898,BC017943,BX647581,CR600208 NP_001074014,AAY14914,AAY24129,EAX10976,EAX10977,AAM18054,AAH17943,CAI46089,Q53SA3,Q53TF4,Q8WVI7 Hs.10941 GDB:11508702 IPP5 protein-coding 1343622 PPP1R2 protein phosphatase 1, regulatory (inhibitor) subunit 2 1580863 12393858,8119416,9126490,17081983,16987514,16627625,15489334,15302935,12761178,12697755,12665801,12477932,12270929,12221103,11320080,10807923,9405437,8288648,7949733,17353931,16189514 5504 NM_006241,AC091633,CH471052,U68111,AJ133812,AY063767,BC007655,BC066921,CR619030,CR622597,X78873,Y13810,Z29646 NP_006232,EAW78025,AAC51206,CAB41680,AAL48322,AAH07655,AAH66921,CAA55475,CAA82754,P41236,Q6NXS2 Hs.535731 GDB:136796 IPP2|MGC87148 1643250,1643508 BW134_H,BW262_H protein-coding 1353440 PPP1R2P1 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 1 11696978,8568858,7949733 5505 NG_001026,AL669918,AL671681,AL935043,X87344,AF275684 AAL09300,Q96PQ5 Hs.654585 GDB:387577 IPP-2P|PPP1R2P pseudo 1344138 PPP1R2P2 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 2 10830953 54036 NG_000913,AF020802 GDB:10796403 pseudo 1344126 PPP1R2P3 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 15489334,12477932,11948623,7949733 153743 NR_002168,AC008491,AC011414,BC066922 AAH66922,Q6NXS1 Hs.567727 GDB:11507486 MGC87149 pseudo 1346291 PPP1R2P4 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 4 11948623 94306 GDB:11507488 1348869 PPP1R2P5 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 5 11948623 94307 GDB:11507490 1351514 PPP1R2P6 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 6 11948623 94308 GDB:11508842 1352861 PPP1R2P7 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 7 11948623 94309 GDB:11507492 1343404 PPP1R2P8 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 8 11948623 94310 GDB:11507494 1345869 PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9 1580863 11076525,15772651,15489334,12477932,11948623,11883959,7949733 80316 NR_002191,Z94277,AB044137,BC056673 BAB18974,AAH56673,O14990 Hs.127689 GDB:11507496 I-4 pseudo 1343572 PPP1R3A protein phosphatase 1, regulatory (inhibitor) subunit 3A The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. 1601468,1601469,1601446,1580863 18232732,17081983,16276364,15870946,15489334,15231141,15181086,14767904,12941760,12853948,12690205,12477932,12185156,12118251,11793847,11512679,11076863,10648825,9845327,9726244,7926294,7581368,2558013 1601468,1601469,1601446 5506 NM_002711,AC092465,AC093598,AF024576,AF024578,CH236947,CH471070,AF024579,BC017405,BC056666,BC070313,BC126451,BC126453,BF576879,DB527300,X78578 NP_002702,AAS07492,AAP22361,AAB94596,EAL24370,EAW83477,EAW83478,AAB94597,AAI26452,AAI26454,CAA55316,Q16821,AAI11453 Hs.458309 GDB:136797 GM|PP1G|PPP1R3 protein-coding 1344962 PPP1R3B protein phosphatase 1, regulatory (inhibitor) subunit 3B The protein phosphatase-1 (PP1) catalytic subunit (PPP1CA; MIM 176875) is regulated by targeting subunits, such as PP1R3B. PP1R3B suppresses the rate at which PP1 dephosphorylates (i.e., inactivates) glycogen phosphorylase (see PYGL; MIM 232700) and enhances the rate at which it activates glycogen synthase (see GYS2; MIM 138571) (Doherty et al., 1995 [PubMed 7498521]).[supplied by OMIM] 17555403,16344560,15231748,14702039,12477932,11948623,7498521 79660 NM_024607,AC022784,CH471157,AI078688,AK024067,AK091994,BC043388,DA100998 NP_078883,EAW65572,BAB14811,AAH43388,Q86XI6 Hs.458513 GDB:11507498 FLJ14005|FLJ34675|GL|PPP1R4 protein-coding 1319302 PPP1R3C protein phosphatase 1, regulatory (inhibitor) subunit 3C Protein phosphatase-1 (PP1; see MIM 176875) participates in the regulation of a wide variety of cellular functions by reversible protein phosphorylation. The ability of PP1 to regulate diverse functions resides in its capacity to interact with a variety of regulatory subunits that may target PP1 to specific subcellular locations, modulate its substrate specificity, and allow its activity to be responsive to extracellular signals. Several targeting subunits of PP1 have been identified, including PPP1R5, the glycogen-binding subunits PPP1R3 (MIM 600917) and PPP1R4, and the nuclear inhibitor of PP1 (PPP1R8; MIM 602636).[supplied by OMIM] 1580863 8985175,16381901,15489336,12477932,11256614,11230166,11076863,10222257,9414128 5507 NM_005398,AF110824,AL359986,CH471066,AF087874,BC012625,BX537399,Y18207 NP_005389,AAD33215,CAH69995,EAW50107,AAM10502,AAH12625,CAD97641,CAA77082,Q8TDR5,Q9UQK1,CAL37969 Hs.303090 GDB:6262111 PPP1R5 protein-coding 1315049 PPP1R3D protein phosphatase 1, regulatory (inhibitor) subunit 3D Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. 625590,1580863 9414128,15489334,12477932,11780052,9275233,15778465 625590 5509 NM_006242,AL109928,CH471077,BC047502,BC074860,BC074861,BX647298,Y18206 NP_006233,CAB92096,EAW75425,AAH47502,AAH74860,AAH74861,CAA77081,O95685,Q86X09 Hs.42215 GDB:7097324 DKFZp781L2441|PPP1R6 protein phosphatase 1, regulatory subunit 3d protein-coding 1318988 PPP1R3E protein phosphatase 1, regulatory (inhibitor) subunit 3E 14702039,12477932,11948623 90673 XM_927029,XM_940069,AL049829,CH471078,CQ859798,AK024489,AK091943,BX161476,BX248758,CR619320 XP_932122,XP_945162,EAW66170,EAW66172,EAW66173,CAH25949,BAB15779,CAD61931,CAD66565,Q86SI2,Q9H7J1 Hs.601513 GDB:11508703 KIAA1443 protein-coding 1353330 PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F 14702039,12477932,11948623,9843442 89801 NM_033215,AF235097,CH471224,AK056297,AK056909,AK127066,BC110405,BC131588,BE670223,BF726691 NP_149992,EAW50670,BAC86811,AAI10406,AAI31589,Q0D2I0,Q6ZSY5 Hs.433652 GDB:11508454 Hb2E protein-coding 1346810 PPP1R3G protein phosphatase 1, regulatory (inhibitor) subunit 3G 11948623 89802 GDB:11508704 1317789 PPP1R7 protein phosphatase 1, regulatory (inhibitor) subunit 7 1580863 10231361,17353931,7498485,17630778,17081983,15489334,12477932,12226088,7670491 5510 BC051689,BT007296,BT020134,CR594406,CR594437,CR599386,CR609492,CR611666,CR616338,Z50749,NM_002712,AC005237,AF067134,AF067136,CH471063,BC000910,BC012397,BC013001 AAP35960,AAV38936,NP_002703,AAD26610,AAD26612,AAD26613,AAD26611,EAW71243,EAW71244,EAW71245,AAH00910,AAH12397,AAH13001,CAA90626,Q15435 Hs.36587 GDB:9806345 SDS22 protein phosphatase 1, regulatory subunit 7 protein-coding 1314810 PPP1R8 protein phosphatase 1, regulatory (inhibitor) subunit 8 This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. 727255,1580863 12477932,12105215,11909864,11739654,11104670,9153239,17353931,7499293,17804093,17724462,16826568,16710414,16216881,15659832,15501817,15489334,15231748,14699119,12788942,12788939,11034904,10827081,10564811,10432294,10103062,9407077,8473324,7524097,16048649,16131488,16189514 727255 5511 NM_002713,NM_138558,NM_014110,AF064751,AF064752,AF064753,AF064754,AF064755,AF064756,AF064757,AL020997,AL109927,AL359959,CH471059,AF061958,AF061959,AF126488,AK292077,BC001597,BC003405,BC013360,BC093017,BI459680,CR450309,CR596016,DQ223931,U14575 NP_002704,NP_612568,NP_054829,AAD24669,AAD24670,CAI20576,CAI20577,CAI20578,CAI21767,CAI21779,CAI21780,CAI21781,EAX07731,EAX07732,EAX07733,EAX07734,EAX07735,EAX07736,EAX07737,AAD31541,AAD31542,AAD22486,BAF84766,AAH01597,AAH13360,AAH93017,CAG29305,ABB04281,AAA64749,Q12972,Q38J66,Q561W4,Q5TIF1,Q5TIF3,Q6ICT4,Q9UHS2 Hs.533474 GDB:9836492 ARD-1|ARD1|NIPP-1|NIPP1|PRO2047 protein-coding 1352990 PPP1R8P protein phosphatase 1, regulatory (inhibitor) subunit 8 pseudogene 10103062 5512 NG_001178,AF064758,AL359959 GDB:9836493 pseudo 1350094 PPP1R9A protein phosphatase 1, regulatory (inhibitor) subunit 9A 1580863 16344560,14702039,12853948,12690205,12477932,10574462,9373149,8125298,12052877,10504266,10514494,9362513 55607 NM_017650,AC002429,AC004022,AC073886,AC073890,CH236949,AB033048,AK000075,AK096514,AK225204,BC037849,BC130449,DA497168 NP_060120,AAC35294,EAL24134,BAA86536,BAA90928,AAI30450,Q9ULJ8 Hs.21816 GDB:11502417 FLJ20068|KIAA1222|NRB1|NRBI|Neurabin-I protein-coding 733635 PPP1R9B protein phosphatase 1, regulatory (inhibitor) subunit 9B Spinophilin is a regulatory subunit of protein phosphatase-1 catalytic subunit (PP1; see MIM 176875) and is highly enriched in dendritic spines, specialized protrusions from dendritic shafts that receive most of the excitatory input in the central nervous system (Allen et al., 1997 [PubMed 9275233]).[supplied by OMIM] 625590,1580863 11278317,15465982,14702039,12531897,12477932,12417592,12270929,12230305,11154706,10514494,10391935,10194355,9653190,9275233,14550532 625590 84687 NM_032595,AC002401,CH471109,AI056581,AJ401189,AK054907,AL157449,AL713642,BC008564,BC011232,BC016162,BF109903,CB052174,CR605734 NP_115984,EAW94636,EAW94637,EAW94638,CAC37685,CAD28455,AAH08564,AAH16162,Q96B17,Q96HI8,Q96SB3 Hs.514323 GDB:9864400 FLJ30345|PPP1R6|PPP1R9|SPINO|Spn nuerabin 2 protein-coding 735585 PPP2CA protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. 9847399,11007961,2849764,11360189,17941990,17803990,16541025,16341674,16258073,16189514,16169070,15761153,15671020,15489334,15252037,15247211,15147202,14724252,14702039,14633983,12842894,12637511,12624094,12556559,12477932,12435421,12370081,12186863,12110603,12054646,12036952,11959144,11956189,11929880,11929874,11842093,11591705,11531413,11440634,11438723,11371618,11278485,11114196,11113010,10921877,10769027,10698523,10681496,10675325,10644691,10441131,10191253,9989501,9920888,9852076,9795170,9647778,9400615,9353299,9013886,9009195,9003791,8703017,8617805,8524402,8392375,8386634,8383590,8206937,7592815,4092695,2837763,2557326,2555176,1848668,1848320,1846293,1330687,1328247,12859198,12514180,12912990,10827081,11313937 5515 CR594228,CR594899,CR596427,CR601999,CR619537,CR624778,J03804,X12646,NM_002715,AC104109,CH471062,M60483,AK057424,AK097599,AV705728,BC000400,BC002657,BC019275,BC031696,BM786995,CR457417,CR593738 AAB38019,CAA31176,P67775,Q6I9T8,NP_002706,EAW62268,EAW62269,AAA36466,AAH00400,AAH02657,AAH19275,AAH31696,CAG33698 Hs.483408 GDB:126878 PP2Ac|PP2CA|RP-C protein phosphatase 2a, catalytic subunit, alpha isoform protein-coding 736927 PPP2CB protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. Two transcript variants encoding the same protein have been identified for this gene. 8206937,2849765,17210576,15489334,15147202,17353931,14702039,14676191,14633983,12477932,12435421,12370081,12110603,11588171,11531413,11259605,11113010,11007961,10921877,10781942,10600115,10318862,9920888,9400615,9276686,9013886,8749392,8383590,2837763,2555176,2153055,1846293,1330687,12912990 5516 X12656,NM_001009552,NM_004156,AC009314,CH471080,M60484,AF444006,AK091875,BC012022,BG716837,BT019526,CA419001,CF594136,CR541747,CR593215,CR611096,CR624064,J03805 AAB38020,CAA31183,P62714,Q5U0I7,Q6FHK5,Q8WZ56,NP_001009552,NP_004147,EAW63433,EAW63434,EAW63435,EAW63436,AAA36467,AAL35904,AAH12022,AAV38333,CAG46547 Hs.491440 GDB:126879 PP2CB protein phosphatase 2a, catalytic subunit, beta isoform protein-coding 1342834 PPP2CBP protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform pseudogene 10493829,8383590 5517 NG_004793,AC002519 GDB:136009 pseudo 1345219 PPP2R1A protein phosphatase 2 (formerly 2A), regulatory subunit A , alpha isoform This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. 1580863 9847399,11007961,9989501,11360189,17688198,17314097,17210576,16930554,16717086,16344560,15963952,15525651,15489334,15231748,14702039,14676191,14532964,12670497,12477932,12110603,11856313,11531413,11504734,10921877,10862698,10629059,10224043,9400615,9013886,8694763,8254721,7592815,2554323,2159327,2157202,17353931,16189514,14743216,12370081 5518 NM_014225,AC010320,CH471135,M31786,AK090488,AK091387,AK130000,AK290593,AK291932,AU128747,BC001537,BC026733,CR450340,CR604449,CR623106,J02902 ABM86978,ABM83682,NP_055040,EAW72066,AAA35531,BAC03652,BAF83282,BAF84621,AAH01537,CAG29336,AAA36399,P30153,Q8NB89,AAP36766 Hs.467192 GDB:136798 MGC786|PR65A protein phosphatase 2 (formerly 2a), regulatory subunit a (pr 65), alpha isoform protein-coding 1312396 PPP2R1B protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Defects in this gene could be the cause of some lung and colon cancers. At least two transcript variants encoding different isoforms have been found for this gene. 1580863 17540176,17449237,17343570,17324501,16276521,15936019,14767517,14576831,12912990,12670497,12477932,12110603,11996789,11929880,11591705,11531413,11440634,11313745,11007961,10921877,10896920,10597236,10358086,9795170,9765152,9400615,9353299,9013886,2159327,1328247,16189514,11313937 5519 NM_002716,AF083439,AP000925,AP001781,CH471065,AF087438,AF163473,AK292275,BC027596,CR617223,DB527885,M65254,NM_181699 NP_859050,NP_002707,AAC63525,EAW67150,EAW67151,AAC69624,AAG39644,BAF84964,AAH27596,AAA59983,P30154,Q8NHV8,ABM92223,ABM85033,ABW03339 Hs.584790 GDB:136799 MGC26454|PR65B protein phosphatase 2 (formerly 2a), regulatory subunit a (pr 65), beta isoform protein-coding 733714 PPP2R2A protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. 9847399,1849734,18339811,17693407,17604273,17255109,17055435,16790090,16580887,16474850,16239230,16239222,15489334,14702039,12477932,12110603,11956189,11531413,11259128,11007961,10921877,10862698,10681496,9774674,9514514,9400615,9013886,1328247,16048649,15725353,15142377,15638722,15578586,17353931,10608806,16041367,15775987 5520 NM_002717,AC022911,CH471080,AK095153,AY189686,BC041071,BX440554,M64929 NP_002708,EAW63577,EAW63578,EAW63579,EAW63580,AAO85219,AAH41071,AAA36490,P63151,Q56VW8,Q6ZP32 Hs.146339 GDB:136800 B55-ALPHA|B55A|FLJ26613|MGC52248|PR52A|PR55A protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), alpha isoform protein-coding 1352838 PPP2R2B protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases of SCA12. 1580863 1849734,18484086,17529992,17123511,16596250,16475161,16344560,16286244,16245300,16126728,16109716,16054804,15489334,15148151,14960773,14702039,12912990,12497613,12477932,12140678,12110603,12058047,11983168,11956189,11723136,11531413,11198281,10921877,10581021,10322434,9514514,9400615,9013886,8348150,16048649,15780175,15725353,15817944,15638722,16138911,15578586,16041367,15761153 5521 NM_181677,NM_181674,NM_181676,NM_181675,NM_004576,NM_001127381,AC008728,AC009186,AC010251,AC011357,AC011386,AC091919,AC091924,AF152102,CH471062,AI621232,AK056192,AK289717,NM_181678,AK314810,AL540315,AV726282,BC031790,BI669304,BX647887,CR607404,DA155307,DA365141,DA522334,DA523686,M64930 NP_858064,NP_858063,NP_858060,NP_858062,NP_858061,NP_004567,NP_001120853,AAF74024,EAW61829,EAW61830,EAW61831,EAW61832,EAW61833,EAW61834,EAW61835,BAF82406,AAH31790,AAA36493,Q00005,Q9NS07,ABM82711,ABM85895 Hs.655213 GDB:136801 B55-BETA|FLJ95686|MGC24888|PP2A-B55BETA|PP2A-PR55B|PP2AB-BETA|PP2APR55-BETA|PR2AB-BETA|PR2AB55-BETA|PR2APR55-BETA|PR52B|PR55-BETA|SCA12 protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), beta isoform protein-coding 732376 PPP2R2C protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 10945473,14998489,14702039,12912990,12477932,12136098,12110603,11531413,11007961,10921877,10574460,9847074,9514514,9400615,9013886,16048649,15817944,15780175,15725353,15638722,15578586,16041367 5522 BM551976,NM_020416,NM_181876,AC114815,AC116317,AC122939,AF096153,AF096160,AJ328955,CH471131,AB209183,AF086924,AF145027,AK093115,AK122849,AK127386,AW955803,BC021735,BC032954,BC045682 Q7Z4V7,Q59GC6,Q8NEC4,Q9Y2T4,NP_065149,NP_870991,AAD20987,EAW82393,EAW82394,EAW82395,BAD92420,AAG39636,AAP97279,AAH32954 Hs.479069 GDB:136802 B55-GAMMA|IMYPNO|IMYPNO1|MGC33570|PR52|PR55G protein phosphatase 2 (formerly 2a), regulatory subunit b (pr 52), gamma isoform protein-coding 1351294 PPP2R2D protein phosphatase 2, regulatory subunit B, delta isoform 1580863 15489334,15164054,14702039,12477932,10819331 55844 NM_001003656,NM_018461,AL732395,CH471066,AF220046,AI521071,AK000402,AK001483,AK293065,BC047379,BC058076,BC060885,BC072402,CR592682,CR597188,CR611198 NP_001003656,NP_060931,CAI16703,EAW49145,EAW49146,EAW49147,AAF67639,BAF85754,AAH47379,AAH58076,AAH72402,Q66LE6,Q6IN90,Q6PEG1,Q9NZ48 Hs.380372,Hs.657480 MDS026 protein-coding 1315869 PPP2R3A protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 9847399,8392071,1849734,17535922,16713569,15687260,12524438,12477932,12110603,11748221,11531413,11504734,11007961,10921877,10629059,10358086,9927208,9400615,9013886,16048649,15817944,15780175,15725353,15638722,15578586,12506124 5523 BE897340,L07590,L12146,NM_002718,NM_181897,AC072039,AC092991,CH471052,AK293012,AL389975,AL599266,BC015034,BC029409,BC040158,BC065531 AAB02613,AAB02614,Q06190,Q6P0N9,NP_002709,NP_871626,EAW79122,EAW79123,EAW79124,EAW79125,EAW79126,BAF85701,CAB97532,AAH15034,AAH29409,AAH65531 Hs.518155 GDB:136803 PPP2R3|PR130|PR72 protein-coding 1604626 PPP2R3B protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms. 9847399,10629059,17178856,12605688,12477932,11593413,11173861,10508479,8889548,16189514 28227 NM_199326,XM_001720606,AF215840,AL732314,AL954664,BX000476,CH471225,AB209137,AF135016,AF155098,AI248426,AL157501,BC009032,BC011180,NM_013239,BC063429,BF530463,BI828434,BK000521,BM676246,BU845905,CB218994 NP_037371,NP_955358,XP_001720658,EAW66818,EAW66819,BAD92374,AAD38515,AAD42864,CAB75680,AAH09032,AAH11180,AAH63429,DAA00385,Q59GH2,Q5HYX9,Q96FD8,Q96H01,Q9NSQ1,Q9UHL2,Q9Y5P8 Hs.124942 GDB:11507504 NY-REN-8|PPP2R3L|PPP2R3LY|PR48 protein-coding 1319421 PPP2R3C protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma 16129705,15820313,15489334,14702039,12477932,12167160,9373149,8125298 55012 NM_017917,AL049776,AL121594,CH471078,AK000651,AK225447,AK225512,AY157304,AY157305,AY518535,AY518536,AY518537,BC006823,BC010293,BC012563,BC037797,BC063438,BC100021,BX248043,CR590316,CR594274,CR601345,CR602202,CR618013,CR622598 NP_060387,EAW65886,EAW65887,EAW65888,EAW65889,EAW65890,BAA91308,AAO17045,AAO17046,AAT44532,AAT44533,AAH06823,AAH10293,AAH12563,AAH63438,CAD62352,Q86US5,Q969Q6 Hs.530712,Hs.708485 C14orf10|FLJ20644|G4-1|G5pr chromosome 14 open reading frame 10 protein-coding 1318076 PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 16916641,10318862,8195217,18292600,16936753,16885030,16782712,16380387,16344560,16293617,15965230,15489334,15164053,12477932,12110603,11956189,11531413,10921877,10880964,10585862,9400615,9373149,9139659,9013886,8887688,8530035,8125298,7721943,3017441,16048649,15817944,15780175,15725353,15638722,15578586,15225643,12952889,16189514 5524 X86439,AK222788,AU133279,BC002545,BC010497,BC011605,BC020581,BE732116,BG255640,BT020119,CR597906,CR605961,CR617712,CR619139,CR620812,CR749810,X73478,NM_178001,NM_178000,NM_178003,AF134185,AL158151,CH471090,X86428,NM_021131 CAB77601,CAB77602,CAB77603,BAD96508,AAH02545,AAH11605,AAV38922,CAH18670,CAA51873,Q15257,Q5T948,Q5T949,Q5T950,Q68CR8,ABM83080,ABM85805,ABM86275,NP_066954,NP_821068,NP_821067,NP_821070,AAF24143,CAI12871,CAI12872,CAI12873,CAI12874,CAM14694,CAM14695,CAO03338,CAO03339,CAO03340,CAO03341,CAO03342,CAO03343,CAP58847,EAW87876,EAW87877,EAW87878,EAW87879,EAW87880,EAW87881,EAW87882,EAW87883,EAW87884,EAW87885,CAA60163 Hs.400740 GDB:349832 MGC2184|PP2A|PR53|PTPA protein phosphatase 2a, regulatory subunit b' (pr 53) protein-coding 1317550 PPP2R5A protein phosphatase 2, regulatory subunit B', alpha isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. 1580863 9847399,8703017,16710414,15489334,14690447,12501214,12477932,12435421,12110603,12086851,12062430,12058047,11994459,11929874,11884620,11856313,11531413,11397791,10921877,10866685,10092233,9400615,9013886,8889548,8812429,8702385,8694763,7592815,16048649,15817944,15780175,15725353,15638722,11585828 5525 NM_006243,AL360091,AL451060,CH471100,BC022474,BC110883,BM974076,CR594992,CR604482,CR624407,L42373 NP_006234,EAW93392,EAW93393,AAH22474,AAI10884,AAC37601,Q15172,ABM83287,ABM86494 Hs.497684 GDB:1230485 B56A|MGC131915|PR61A protein phosphatase 2, regulatory subunit b (b56), alpha isoform protein-coding 1353441 PPP2R5B protein phosphatase 2, regulatory subunit B', beta isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. 1580863 15380617,8703017,16456541,15665512,15489334,14702039,12477932,12110603,11531413,10921877,10698523,9400615,9272177,9013886,8812429,8694763,8012384,7592815,12775419,16048649,15817944,15780175,15725353 5526 AP001187,CH471076,Z58949,AB209289,AK092730,BC045619,CR621212,L42374,NM_006244 NP_006235,EAW74324,EAW74325,BAD92526,AAH45619,AAC37602,Q15173,Q59G20,ABZ92527 Hs.75199 GDB:1230486 B56B|FLJ35411|PR61B protein phosphatase 2, regulatory subunit b (b56), beta isoform protein-coding 1319620 PPP2R5C protein phosphatase 2, regulatory subunit B', gamma isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 12297508,8617797,15380617,17540176,8703017,17967874,17663574,17245430,16524888,15778281,15632055,12477932,12110603,11959144,11929880,11863364,11531413,10921877,10698523,10675325,10508479,9400615,9013886,8812429,8694763,7607250,7592815,7584044,7584026,16048649,15817944,15780175,15725353,16189514 5527 U37352,Z69030,NM_002719,NM_178586,NM_178587,NM_178588,AL118558,AL137779,AY052369,CH471061,AK131391,AL834350,BC016183,BI560029,BQ006619,BX248254,CR597926,CR600629,CR605905,CR611892,CR620797,D26445,L42375 AAC50387,CAA93154,Q13362,Q6ZN33,Q7L7W2,Q86U13,Q96B13,NP_002710,NP_848701,NP_848702,NP_848703,AAL14777,AAL14778,AAL14779,EAW81752,EAW81753,EAW81754,EAW81755,EAW81756,EAW81757,BAD18542,AAH16183,CAD62582,BAA05465,AAC37603,Q96L51,Q96L52 Hs.368264 GDB:1230487 B56G|MGC23064|PR61G protein phosphatase 2, regulatory subunit b (b56), gamma isoform protein-coding 1350999 PPP2R5CP protein phosphatase 2, regulatory subunit B', gamma isoform pseudogene 11863364 140921 NG_001307,AC092045,AF411591 GDB:11503157 protein phosphatase 2, regulatory subunit b (b56), gamma isoform pseudogene pseudo 1315410 PPP2R5D protein phosphatase 2, regulatory subunit B', delta isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 16189514,17110335,17540176,8703017,18056802,16565220,16239230,15809743,15489334,14702039,14636580,12477932,12110603,11531413,10921877,9400615,9180267,9013886,8812429,8566219,7592815,16048649,15817944,15780175,15725353,12912990,14690447 5528 NM_180976,NM_180977,AL136304,CH471081,AB000634,AB000635,AB209861,AK122701,AK290604,AK291797,BC001095,BC001175,BC010692,CR590993,CR625285,D78360,L76702,NM_006245 NP_006236,NP_851307,NP_851308,CAI19791,EAX04130,EAX04131,EAX04132,EAX04133,EAX04134,BAA20381,BAA20382,BAD93098,BAF83293,BAF84486,AAH01095,AAH01175,AAH10692,BAA11372,AAB69751,Q14738,Q59EF0,Q5TC39,ABZ92528 Hs.533308 GDB:1230488 B56D|MGC2134|MGC8949 protein phosphatase 2, regulatory subunit b (b56), delta isoform protein-coding 1313814 PPP2R5E protein phosphatase 2, regulatory subunit B', epsilon isoform The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. 1580863 15380617,17540176,8703017,15489334,15231748,12477932,12110603,11531413,10921877,9400615,9013886,8812429,8694763,7592815,16048649,15817944,15780175,15725353 5529 NM_006246,AL118555,AL132992,AL136038,CH471061,AB209811,BC013154,BC034994,BC048305,BC056156,BC064358,BC073873,BC092477,BC093766,BC101479,BQ439131,CB989123,L76703,Z69029 NP_006237,EAW80826,EAW80827,BAD93048,AAH34994,AAH48305,AAH64358,AAH92477,AAH93766,AAI01480,AAB69752,CAA93153,Q16537,Q3ZCW9,Q562F2,Q58EX4,Q59EK0,Q86XZ2,ABZ92529 Hs.334868 GDB:1230489 protein phosphatase 2, regulatory subunit b (b56), epsilon isoform protein-coding 730900 PPP3CA protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform 1580700,1580701,1580702,734902,1580725,1580726,1300048,1580863,1579951,1302567,1579956 8392375,17478429,17320203,16381901,16189514,16150694,15955804,15671033,15671020,15489336,15489334,15454081,14704270,12809556,12586544,12574411,12510191,12482669,12477932,12218175,12135494,12102656,12063245,12021260,11842093,11714752,11513882,11478781,11439183,11316738,11114196,11076863,10861295,10195903,10089876,9765270,9109491,8978785,8524402,8521476,7593193,7543369,7528941,2848250,2556704,2162844,1659808 1580700,1580701,1580702,734902,1580725,1580726,1579951,1302567,1579956 5530 NM_000944,AC092671,AP001816,AP001870,AP001939,CH471057,AK290532,AL353950,AY904364,BC025714,BC098424,EU192652,EU192653,J05480,L14778 NP_000935,EAX06123,EAX06124,EAX06125,BAF83221,CAB89253,AAY17314,AAH25714,ABW74484,ABW74485,AAA35634,AAA02631,Q08209,Q9UMM5,CAL38363,CAL38589 Hs.435512 GDB:118761 CALN|CALNA|CALNA1|CCN1|CNA1|PPP2B protein phosphatase 3 (formerly 2b), catalytic subunit, alpha isoform (calcineurin a alpha) protein-coding 733965 PPP3CB protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform 1580703,1580704,1580705,1580706,1580727,1579951,1579956 8524402,8392375,8978785,18034994,16024800,15557343,15514034,12809556,12482669,12477932,11970967,11842093,11714752,11114196,11030334,9660947,9655484,7593193,2558868,2556704,1848109,1659808,1321058 1580703,1580704,1580705,1580706,1580727,1579951,1579956 5532 NM_021132,AL353731,AL359074,CH471083,S40012,AJ488506,BC028049,BC035464,CR612755,M29550,M29551 NP_066955,CAI52482,CAI52487,CAI52488,CAI52472,CAI52473,CAI52474,EAW54496,EAW54497,EAW54498,EAW54499,EAW54500,AAB22473,CAD32694,AAH28049,AAA35705,AAA35706,P16298,Q5F2F8,Q5F2F9,Q5F2G0,Q8N1F0,Q9UMB2 Hs.500067 GDB:131362 CALNA2|CALNB protein phosphatase 3, catalytic subunit, beta isoform protein-coding 1347828 PPP3CC protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform Calmodulin-dependent protein phosphatase, calcineurin, is involved in a wide range of biologic activities, acting as a Ca(2+)-dependent modifier of phosphorylation status. In testis, the motility of the sperm is thought to be controlled by cAMP-dependent phosphorylation and a unique form of calcineurin appears to be associated with the flagellum. The calcineurin holoenzyme is composed of catalytic and regulatory subunits of 60 and 18 kD, respectively. At least 3 genes, calcineurin A-alpha (CALNA1; MIM 114105), calcineurin A-beta (CALNA2; MIM 114106), and calcineurin A-gamma (CALNA3), have been cloned for the catalytic subunit. These genes have been identified in humans, mice, and rats, and are highly conserved between species (90 to 95% amino acid identity).[supplied by OMIM] 1580863,1579951 15231831,10195903,18201382,18198266,17895921,17339875,15843870,15820226,15761153,14702039,12851458,12482669,12477932,11714752,1339277 1579951 5533 NM_005605,AC037459,AC087854,CH471080,AK055013,AY007249,BC004864,CR591053,S46622 NP_005596,EAW63677,EAW63678,EAW63679,AAG02563,AAH04864,AAB23769,P48454,Q9BSS6,Q9H4M5 Hs.655661 GDB:136027 CALNA3 protein phosphatase 3 (formerly 2b), catalytic subunit, gamma isoform (calcineurin a gamma) protein-coding 1350432 PPP3R1 protein phosphatase 3 (formerly 2B), regulatory subunit B, alpha isoform 1580706,1580707,1580708,1580709,1580728,1580729,1579951 2558868,8524402,15231831,10195903,18034994,17761791,17237284,17038582,16648474,16473827,16209992,15815621,15489334,12482669,12477932,12357034,12218175,11982754,11439183,11108966,10959817,10520753,10493818,8978785,7541044,16189514,15589160 1580706,1580707,1580708,1580709,1580728,1580729,1579951 5534 NM_000945,AC017083,CH471053,BC027913,BM468705,BQ228635,CR456938,CR593156 NP_000936,AAY14715,EAW99878,AAH27913,CAG33219,P63098,Q8WV39 Hs.280604 GDB:136804 CALNB1|CNB|CNB1 protein phosphatase 3 (formerly 2b), regulatory subunit b, 19kda, alpha isoform (calcineurin b, type i) protein-coding 1346251 PPP3R2 protein phosphatase 3 (formerly 2B), regulatory subunit B, beta isoform 1579951 17892862,17684544,17531200,17324936,16961774,15865209,15489334,14702039,12482669,12477932,1718268 1579951 5535 NM_147180,AL591377,CH471105,AF085237,AF145026,AF400667,AK057524,BC030595,BC066299 NP_671709,CAH69961,EAW58961,AAL40395,AAP97278,AAP57772,BAB71521,AAH30595,AAH66299,Q5VTR4,Q96LZ3 Hs.151167 GDB:136805 PPP3RL protein phosphatase 3 (formerly 2b), regulatory subunit b, 19kda, beta isoform (calcineurin b, type ii) protein-coding 1352781 PPP4C protein phosphatase 4 (formerly X), catalytic subunit 9837938,17353931,18347064,15805470,15489334,15364934,15331607,15073167,12668731,12477932,10769191,10026142,9647778,9359419,9177794,8384557,1336397,16189514 5531 NM_002720,AC093512,CH471238,AF097996,BC001416,BT019746,CR591400,CR596664,CR602191,CR602786,CR610798,CR611373,CR613303,CR616736,CR618633,CR619878,CR621457,CR623362,X70218 NP_002711,EAW79928,EAW79929,EAW79930,EAW79931,AAC96318,AAH01416,AAV38551,CAA49753,P60510,Q5U086,ABM82873,ABM86060 Hs.534338 GDB:136806 PP4|PPH3|PPX protein-coding 735851 PPP4R1 protein phosphatase 4, regulatory subunit 1 1580863 17353931,10026142,15489334,14702039,12477932,11729228,9110174,8619474,15805470 9989 NM_001042388,NM_005134,AP000902,AP001381,AP005432,CH471113,AF100744,AF111106,AF200478,AK025509,AK027064,AK090718,AK292538,BC060829,DR006046,U79267 NP_001035847,NP_005125,EAX01598,EAX01599,EAX01600,AAD43008,AAD09818,AAL78298,BAF85227,AAH60829,AAB50211,Q8TF05 Hs.464595 GDB:9958558 PP4(Rmeg)|PP4R1 protein-coding 1354233 PPP4R1L protein phosphatase 4, regulatory subunit 1-like 1580863 14702039,12477932,11780052,11483580 55370 NR_003505,AL035455,AL354776,AL354834,CH471077,AK057583,AL833409,BC100979,BC100980,CR605633,CR994964,CX783537 CAC17568,CAM14101,EAW75498,EAW75499,EAW75500,EAW75501,BAB71529,AAI00980,AAI00981,Q495Y2,Q495Y3,Q5JY63,Q96LY6,Q9H1P5,Q9P1A2 Hs.473179 GDB:11507507 C20orf192|PRO1085 pseudo 1316433 PPP4R2 protein phosphatase 4, regulatory subunit 2 1580863 17353931,10769191,12668731,12477932 151987 AC098481,AC103559,CH471055,AF327345,AJ271448,AK289901,AL833216,BC100281,BC110889,BC128136,BC128137,CR606592,NM_174907 NP_777567,EAW65530,AAL56006,CAB93534,BAF82590,AAI00282,AAI10890,AAI28137,AAI28138,Q9NY27 Hs.431092 GDB:11508456 MGC131930 protein-coding 68614 PPP5C protein phosphatase 5, catalytic subunit 1580863 7925273,12761501,18280813,17084641,16892053,16790549,16537434,16531226,16260606,15577939,15489334,15328343,15218033,15155720,15057824,14734805,14702039,12522145,12519780,12477932,12435421,12176367,11689443,11504734,10400612,9482716,9405394,9383998,9373149,9195923,8666404,8561788,8125298,1330687,15735747,15664193 5536 AC007193,CH471126,AB209615,AK094241,AK223222,BC000750,BC001831,BC001970,BT007275,CR608296,CR609801,CR614329,CR621186,CR624518,U25174,X89416,NM_006247,X92121 NP_006238,AAD22669,EAW57415,EAW57416,EAW57417,BAD92852,BAD96942,AAH00750,AAH01831,AAH01970,AAP35939,AAB60384,CAA61595,CAA63089,P53041,Q4PIX6,Q53FR0,Q53XV2,Q59F46,Q9BPW0 Hs.654604 GDB:136857 FLJ36922|PP5|PPP5 protein-coding 734407 PPP6C protein phosphatase 6, catalytic subunit This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. 1580863 16716191,9013334,17568194,16769727,16344560,16276083,15489334,12477932,9647778,9143513,8889548,14743216 5537 NM_002721,NM_001123355,NM_001123369,AL445930,CH471090,AA251321,AF035158,AK312332,BC006990,BT019708,CB250498,CR604032,CR614982,CR621615,CR626684,DB037210,DC307002,DC334216,DC369815,X92972 NP_002712,NP_001116827,NP_001116841,CAI13676,CAI13677,EAW87611,EAW87612,EAW87613,AAD45400,BAG35253,AAH06990,AAV38514,CAA63549,O00743 Hs.584019,Hs.594307 GDB:5326829 FLJ92648|MGC12249 protein-coding 2293110 PPP6CP protein phosphatase 6, catalytic subunit pseudogene 16276083 100144631 NG_007543,AL118496 pseudo 1320168 PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1 The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPARGC1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. 17937892,17390079,17341490,16511594,15684387,14722127,14702039,14550271,12477932,11943463,11340167,9628581,8889548,12611894 23082 NM_015062,AL500527,CH471066,AB011167,AF325193,AK025691,AK095248,BC002561,BC063806,BC063829,CA442653 NP_055877,CAH72218,CAH72219,EAW49719,EAW49720,EAW49721,BAA25521,AAK11573,AAH02561,AAH63806,AAH63829,Q5VV67 Hs.533551 KIAA0595|MGC74642|PRC|RP11-302K17.6 protein-coding 736552 PPT1 palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. PPT is thought to be involved in the catabolism of lipid-modified proteins (Camp et al., 1994 [PubMed 7916016]).[supplied by OMIM] 734784,1580863 10658183,10737604,7637805,15929065,10992246,16542649,8816748,11722572,11020216,11136716,10740217,12483688,8895569,17261688,16571600,16518810,16303743,15489334,12855696,12754519,12477932,12125808,12025857,11588997,11506414,11440996,10416973,9664077,9571187,9425237,8786130,8633062,8325646,7916016 734784 5538 NM_000310,AF022211,AL512599,CH471059,L42809,AK075496,BC008426,BX441569,CR542053,CR591777,CR596258,CR599400,U44772 NP_000301,AAB72224,CAI11023,CAI11024,CAI11025,CAI11026,EAX07237,EAX07238,AAA85337,AAH08426,CAG46850,AAB06236,P50897,Q6FGQ4 Hs.3873 GDB:125227 CLN1|INCL|PPT palmitoyl-protein thioesterase protein-coding 731722 PPT2 palmitoyl-protein thioesterase 2 This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Three transcript variants encoding different isoforms have been described for this gene, with one of the isoforms being inactive. 731239,1580863 10417332,9341199,16381901,15489336,15489334,14759258,14656967,14574404,12975309,12855696,12477932,11717424,11256614,11230166,11076863,10051407 731239 9374 NM_138717,NM_005155,AL662828,AL662884,AL845464,BX284686,BX927239,CH471081,CR812478,CR933878,U89336,AF020543,AF020544,AK290473,AK292729,AL110128,BC000955,BC001355,CR533546,CR591137,CR593559,CR600788,CR608038,CR618419,CR618793,CR621029,CR625307,Y17958 NP_619731,NP_005146,CAI17424,CAI17426,CAI18342,CAI18344,CAI41763,CAM25643,CAM25644,CAM25645,CAI41797,CAI41798,CAI41799,CAM26213,CAM26218,CAQ06585,CAQ06590,EAX03591,EAX03592,EAX03593,EAX03594,EAX03595,EAX03596,CAQ10694,CAQ09614,CAQ09619,AAB47495,AAB80730,AAB80731,BAF83162,BAF85418,CAB53659,AAH01355,CAG38577,CAB46981,Q0JUU9,Q9UMR5,CAL37712,CAQ10689 Hs.635690 GDB:9865037 C6orf8|DKFZp564P1516|G14 protein-coding 1604734 PPTC7 PTC7 protein phosphatase homolog (S. cerevisiae) 15177553,12477932 160760 NM_139283,AC002350,CH471054,AF385435,AK124744,AY357944,BC111551,CR749216 NP_644812,EAW97927,EAW97928,AAM43836,AAQ57274,AAI11552,CAH18073,Q8NI37 Hs.13854 DKFZp686M07120|MGC133072|TA-PP2C protein-coding 1601770 PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 15489334,12477932,11991638,7584044 23398 AK025679,BC015385,CR617762,D38552,NM_015342,AC008560,CH471137 EAW51352,AAH15385,BAA07555,Q96BP3,NP_056157 Hs.121432 KIAA0073 protein-coding 737129 PPY pancreatic polypeptide This gene belongs to the NPY family and it encodes a protein that is synthesized as a 95 aa polypeptide precursor in the pancreatic islets of Langerhans. It is cleaved into two peptide products; the active hormone of 36 aa and an icosapeptide of unknown function. The hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. 1580863 2997153,6373251,17325259,17235527,17171555,16359755,15998783,15998659,15966750,15561938,15489334,14988250,12477932,12187924,11825648,11825647,11825640,8244379,7014602,6366786,6138294,6094571,3753985,1194289,782992 5539 NM_002722,AC007993,CH471178,M11726,BC032225,BC040033,BI838025,M15788,X00491 NP_002713,EAW51649,AAA60156,AAH32225,AAH40033,AAA60161,CAA25161,P01298,ABM92176,ABM84647 Hs.558368,Hs.705086 GDB:120311 PNP 2289501,2289511 BW444_H,BW453_H protein-coding 1345271 PPY2 pancreatic polypeptide 2 11825642,10756099 23614 NR_002181,AC061975,AF085945,AF222903 AAF73875,Q9NRI7 Hs.20588 GDB:10795329 pseudo 731662 PPYR1 pancreatic polypeptide receptor 1 1580863 7592911,8643460,15489334,12477932,12007534,11975932,11906964,11825645,11739470,9441761,9417917,7493937,12270929,10391935,10194355,12016208,11564868,10830164,9009195,12147701,12153558 5540 NM_005972,AL390716,AY268432,CQ793781,U35232,Z66526,AY649985,AY649986,BC096237,BC096238,BC099637,CR541950,U42387 NP_005963,CAI13318,AAP23199,CAG26290,AAC50280,CAA91433,AAV68196,AAV68197,AAH96238,AAH99637,CAG46748,AAB07759,P50391,Q4KKW2,Q4VAV7,Q5T2X9,Q6FH06 Hs.524719 GDB:1220228 MGC116897|NPY4-R|NPY4R|PP1|Y4 2289527 BW436_H protein-coding 1604644 PQBP1 polyglutamine binding protein 1 PQBP1 is a nuclear polyglutamine-binding protein that contains a WW domain (Waragai et al., 1999 [PubMed 10332029]).[supplied by OMIM] 9875212,10198427,16713569,16169070,16104847,15782410,15635413,15489334,15355434,15146197,15024694,14634649,12477932,12062018,11163963,11054566,10873650,10593949,10332029,9599645,9545405,7211958 10084 NM_001032383,NM_001032382,NM_001032381,NM_005710,NM_001032384,AB041832,AF207550,CH471224,AB016533,AB041833,AB041834,AB041835,AB041836,AJ005893,AJ242829,AJ973593,AJ973594,AJ973595,AJ973596,AJ973597,AJ973598,AJ973599,AJ973600,AJ973601,AJ973602,AJ973603,AJ973604,AJ973605,AJ973606,AJ973607,BC012358,BE396796,BX362311,BX369697,CN292761,CN292769,CR591501,CR598805,CR615668 NP_001027555,NP_001027554,NP_001027553,NP_005701,NP_001027556,BAB16702,BAB16703,BAB16704,BAB16705,EAW50735,EAW50736,EAW50737,EAW50738,BAA76400,BAB16706,BAB16707,BAB16708,BAB16709,CAA06750,CAB44309,CAJ00537,CAJ00538,CAJ00539,CAJ00540,CAJ00541,CAJ00542,CAJ00543,CAJ00544,CAJ00545,CAJ00546,CAJ00547,CAJ00551,CAJ00548,CAJ00549,CAJ00550,AAH12358,O60828,Q4VY28,ABM83147,ABM85809 Hs.534384 GDB:9954982 MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS protein-coding 1349834 PQBP2 polyglutamine binding protein 2 9875212 23687 GDB:10450529 1353360 PQBP3 polyglutamine binding protein 3 9875212 23686 GDB:10450530 1352148 PQBP4 polyglutamine binding protein 4 9875212 23685 GDB:10450531 1343655 PQBP5 polyglutamine binding protein 5 9875212 23684 GDB:10450532 1313123 PQLC1 PQ loop repeat containing 1 737633 15489334,14702039,12477932 737633 80148 NM_025078,AC114341,CH471117,CQ834734,AK026031,AK123870,AK126188,BC030140,CR602428,CR610910 NP_079354,EAW66635,EAW66636,EAW66637,CAH05582,BAB15329,BAC86480,AAH30140,Q6ZTU9,Q8N2U9 Hs.288284 FLJ22378 protein-coding 1323183 PQLC2 PQ loop repeat containing 2 737633 16710414,16344560,15489334,14702039,12477932 737633 54896 CH471134,AK000327,AK125580,AK130171,AK130175,AK172745,BC015324,CR612612,AL035413,NM_001040125,NM_017765,NM_001040126,DA202894,DA560373 CAI22229,CAM12847,CAM12848,EAW94882,EAW94883,EAW94884,EAW94885,EAW94886,EAW94887,BAA91088,BAC85296,BAC85298,BAD18732,AAH15324,NP_001035214,NP_060235,NP_001035215,Q6ZP29 Hs.647620 FLJ20320|FLJ23906|FLJ26661|FLJ26665|RP4-657E11.5 protein-coding 1315648 PQLC3 PQ loop repeat containing 3 737633 15815621,15489334,14702039,12477932,8889549 737633 130814 NM_152391,AC018463,AL161956,CH471053,AA076049,AK001091,AL548337,BC027625,CR602070,CR624863 NP_689604,AAX93048,EAX00939,EAX00940,EAX00941,EAX00942,BAE46613,AAH27625,Q8N755 Hs.274415 C2orf22|MGC33602 chromosome 2 open reading frame 22 protein-coding 1346711 PR@ proline-rich protein gene cluster 3922350 5541 GDB:132337 1601838 PRAC small nuclear protein PRAC This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. 12477932,11340635 84366 Q96KF2 NM_032391,AC091179,CH471109,AF331165,BC030950,BU535394 NP_115767,EAW94717,AAK38837,AAH30950,Q96KF2 Hs.116467 MGC32520 protein-coding 1350856 PRAF2 PRA1 domain family, member 2 1580863 17975142,16481131,15757671,15489334,14702039,12477932 11230 NM_007213,AF196779,CH471224,AJ005896,AK023433,BC021213,CR457023,CR597667,CR605520,CR607931,CR614630 NP_009144,EAW50706,EAW50707,CAA06753,AAH21213,CAG33304,O60831 Hs.29595 JM4 protein-coding 1604582 PRAM1 PML-RARA regulated adaptor molecule 1 The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). 16831444,16502582,16502581,15637062,15572693,15489334,12477932,11301322,9570750,8806687,16189514,11430826 84106 NM_032152,AC092298,AC136469,CH471139,AJ272324,BC028012,BI907455,CR619477 NP_115528,EAW68917,EAW68918,CAC17767,AAH28012,Q96QH2,ABM81983,ABW03611 Hs.465812 MGC39864|PRAM-1 protein-coding 1349908 PRAME preferentially expressed antigen in melanoma This gene encodes an antigen that is predominantly expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. This expression pattern is similar to that of other CT antigens, such as MAGE, BAGE and GAGE. However, unlike these other CT antigens, this gene is also expressed in acute leukemias. Five alternatively spliced transcript variants encoding the same protein have been observed for this gene. 1580863 14667819,17693191,17534929,17382387,16914202,16860864,16681423,16620968,16179254,15489334,15461802,15240516,12688312,12477932,12419593,11943337,11298586,10741395,10682862,10591208,9753074,9751617,9619397,9466265,9047241,8889548 23532 BC039731,BM015464,NM_006115,NM_206954,NM_206955,NM_206956,NG_000002,CH471095,AF025440,AK129783,BC014074,BC022008,BQ432004,BU151249,CF121110,CR456549,CR591755,CR604772,CR608334,CR611321,CR618501,CR620272,CR623010,U65011,NM_206953 AAH39731,NP_996836,NP_006106,NP_996837,NP_996838,NP_996839,EAW59518,EAW59519,EAW59520,EAW59521,EAW59522,EAW59523,AAC39560,AAH14074,CAG30435,AAC51160,P78395,CAK54580,CAK54879,ABM84399,ABM87326,AAH22008 Hs.30743 GDB:1320370 MAPE|OIP4 protein-coding 1603300 PRAMEF1 PRAME family member 1 16710414,14702039 65121 CH471130,AK125568,AL049686,NM_023013,AL022101,AL023753 CAI19424,CAI19425,EAW71748,EAW71749,CAB41257,O95521,Q5THR9,NP_075389,CAI22989,CAI22990 Hs.454859 RP5-845O24.1|dJ1198H6.1 protein-coding 1603846 PRAMEF10 PRAME family member 10 16710414,15489334,12477932 343071 NM_001039361,AL022101,AL049682,BC112208,BC112210 NP_001034450,CAB41254,AAI12209,AAI12211,O60809 Hs.684629 MGC138413|MGC138415|RP5-845O24.7 protein-coding 1601784 PRAMEF11 PRAME family member 11 16710414 440560 XM_001714837,XM_001714028,XM_001715375,AL022101,AL049680 XP_001714889,XP_001714080,XP_001715427,CAA17880,CAB41252,O60813 Hs.551617 RP5-845O24.2 protein-coding 1604432 PRAMEF12 PRAME family member 12 16710414 390999 NM_001080830,AL023753 NP_001074299,CAA19295,O95522,AAI52935 Hs.156406 protein-coding 1606073 PRAMEF13 PRAME family member 13 400736 NM_001024661,XM_001713933,AL365443 NP_001019832,XP_001713985,CAH71447,Q5VWM6 Hs.531192 protein-coding 1606052 PRAMEF14 PRAME family member 14 16710414 729528 NM_001099854,AL603890 NP_001093324,CAI16057,Q5SWL7 Hs.449964 protein-coding 1604124 PRAMEF15 PRAME family member 15 653619 XM_001713659,NM_001098376,AL603890,BX470067,AK124292,BC101343,BC137391 XP_001713711,NP_001091846,AAI01344,AAI37392,Q5VWM5 Hs.551617 protein-coding 1602776 PRAMEF16 PRAME family member 16 654348 NM_001045480,AL365443,BC146858 NP_001038945,CAH71445,AAI46859,Q5VWM1 Hs.684629 protein-coding 1602373 PRAMEF17 PRAME family member 17 16710414 391004 NM_001099851,AL603749,CH471167 NP_001093321,CAH70435,EAW51687,Q5VTA0 Hs.684629 protein-coding 1626253 PRAMEF18 PRAME family member 18 391003 NM_001099850,AL365443 NP_001093320,CAH71446,Q5VWM3 Hs.712521 protein-coding 1602375 PRAMEF19 PRAME family member 19 16710414 645414 NM_001099790,AL603890 NP_001093260,CAI16059,Q5SWL8 Hs.700537 protein-coding 1606783 PRAMEF2 PRAME family member 2 16710414,15489334,12477932 65122 NM_023014,XM_001134336,AL022101,CH471130,AL049674,BC040902,BC075008,BC075009 NP_075390,XP_001134336,CAA17878,EAW71753,CAB41247,AAH40902,AAH75008,AAH75009,O60811,Q8IW67 Hs.104991,Hs.454859 DJ845O24.3|FLJ43580|RP5-845O24.1 protein-coding 1626252 PRAMEF20 PRAME family member 20 16710414 645425 NM_001099852,AL603749 NP_001093322,CAH70437,Q5VT98 Hs.700561 protein-coding 1604150 PRAMEF21 PRAME family member 21 391001 NM_001100114,AL365443 NP_001093584,CAH71444 Hs.700560 protein-coding 1606369 PRAMEF3 PRAME family member 3 16710414 401940 NM_001013692,XM_001713666,BX649449 NP_001013714,XP_001713718,CAH71686,Q5TYW8,AAI48461,AAI53057 Hs.558935 protein-coding 1606074 PRAMEF4 PRAME family member 4 16710414 400735 NM_001009611,AL022101,AL049681 NP_001009611,CAI22991,CAB41253,O60810 Hs.551617 RP5-845O24.6 protein-coding 1603849 PRAMEF5 PRAME family member 5 16710414,12477932 343068 NM_001013407,BX649449,BC101344,BC130274,BC130276 NP_001013425,CAH71689,AAI01345,AAI30275,AAI30277,Q5TYX0 Hs.567864 protein-coding 1603804 PRAMEF6 PRAME family member 6 16710414,12477932 440561 NM_001010889,XM_001720604,XM_001715951,AL358783,BC101342 NP_001010889,XP_001720656,XP_001716003,CAH73924,AAI01343,Q5VXH4 Hs.567864 protein-coding 1603801 PRAMEF7 PRAME family member 7 16710414 441871 NM_001012277,AL358783 NP_001012277,CAH73922,Q5VXH5 Hs.553832 protein-coding 1604149 PRAMEF8 PRAME family member 8 16710414 391002 NM_001012276,AL365443 NP_001012276,CAH71450,Q5VWM4 Hs.631872 protein-coding 1603847 PRAMEF9 PRAME family member 9 16710414,15489334,14702039,12477932 343070 NM_001010890,AL365443,AK124292,BC101343,BC137391 NP_001010890,CAH71448,AAI01344,AAI37392,Q5VWM5 Hs.551617 protein-coding 1354045 PRAP1 proline-rich acidic protein 1 14583459,12975309,12477932,9065197 118471 NM_145202,BC101743,DQ884405,AL360181,CH471211,AF123768,AF421885,AY158074,AY358908,BC029447,BC061643,BC071872,BC093853 AAI01744,ABI63372,Q96NZ9,NP_660203,CAH70283,EAW61336,AAP97247,AAL16670,AAN87018,AAQ89267,AAH29447,AAH61643,AAH71872,AAH93853 Hs.15951 MGC126792|PRO1195|RP11-122K13.6|UPA protein-coding 1348170 PRB1 proline-rich protein BstNI subfamily 1 This gene encodes a precursor for proline-rich salivary proteins. This and five other genes that encode salivary proline-rich proteins (PRPs)form a PRP gene cluster in the chromosomal 12p13 region. Precursor salivary PRPs are cleaved multiple times to produce a diversity of secreted peptides. Alleles of this gene exhibit tandem repeat length variation in the coding region as well as polymorphic cleavage sites and polymorphic stop codons. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 12477932,11422372,11329013,9796777,9487127,8422499,8317492,7118863,6924859,6810092,6671974,6089212,3521730,3055850,2993301,2851479,1618808,877561 5542 NM_199353,NM_199354,AC010176,CH471094,K02575,K02576,M97220,S52986,S62928,S62929,S62941,X07516,X07517,BC044827,BC141917,BG216715,BX485626,BX487087,K03204,K03205,K03206,NM_005039 NP_005030,NP_955385,NP_955386,EAW96233,EAW96234,AAA36502,AAA36503,AAB05816,AAA13341,AAB27288,AAB27289,CAA30394,CAA30395,AAH44827,AAI41918,AAA60185,AAA60186,AAA60187,P04280,Q86YA1 Hs.631726 GDB:119511 PM|PMF|PMS|PRB1L|PRB1M protein-coding 1344983 PRB2 proline-rich protein BstNI subfamily 2 15923424,15077161,12477932,8554050,8422499,6874669,6344862,6089212,3178140,2993301,2851479,2307469,1849422 653247 NM_006248,AC078950,AC126171,K02577,K02578,M97221,S80905,K03208 NP_006239,AAA36504,AAA36505,AAB50686,AAA60189,P02812,Q15217,Q15218,Q7M4Q5 Hs.654486 GDB:119512 PRPPRB1|Ps|cP7 protein-coding 1345078 PRB3 proline-rich protein BstNI subfamily 3 The protein encoded by this gene is a proline-rich salivary protein. It is a major constituent of parotid saliva. This protein is proposed to act as a bacterial receptor. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. 1580863 1894623,12477932,10737800,8406834,7566098,3055850,2993301,2851479,2171329 5544 NM_006249,AC010176,CH471094,X07637,X07881,AA376677,AA376715,BC096209,BC096210,BC096211,BC096212,BF155634,BX484729,BX485708,BX485709 Q4VAY2,Q4VAY3,Q4VAY4,Q9UCT9,NP_006240,EAW96230,CAA30477,CAA30728,AAH96209,AAH96210,AAH96211,AAH96212,Q04118 Hs.73031 GDB:119513 G1|MGC116862|MGC116863|MGC116864|PRG protein-coding 1352111 PRB4 proline-rich protein BstNI subfamily 4 The protein encoded by this gene is a proline-rich salivary protein. This gene and five other genes that also encode salivary proline-rich proteins (PRPs), as well as a gene encoding a lacrimal gland PRP, form a PRP gene cluster in the chromosomal 12p13 region. 1580863 8373986,17294201,12477932,11422372,9487127,8554050,8422499,6841349,6810092,6377992,3220251,3055850,2993301,2851479 5545 NM_002723,AC010176,CH471094,S80916,X07704,X07715,X07882,BC035362,BC128191,BC130386,K03207 NP_002714,EAW96231,AAB50687,CAA30542,CAA30543,CAA30729,AAI28192,AAI30387,AAA60188,P10163 Hs.528651 GDB:119514 Po protein-coding 1323372 PRC1 protein regulator of cytokinesis 1 This gene encodes a protein that is involved in cytokinesis. The encoded protein is at high level during S and G2/M and drop dramatically after cell exit mitosis and enter G1. It is located in the nucleus during interphase, and becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 14744859,9885575,17233835,16964243,16603632,16565220,16189514,15625105,15616196,15531928,15489334,15297875,12477932,12082078 9055 AC068831,CH471101,AF044588,BC003138,BC005140,BG773441,BG823292,BU634391,BX457401,BX647317,CR625544,NM_199413,NM_003981,NM_199414 EAX02133,EAX02134,EAX02135,EAX02136,EAX02137,EAX02138,AAC02688,AAH03138,AAH05140,O43663,ABM83859,ABM87181,NP_955445,NP_003972,NP_955446 Hs.567385 GDB:9954817 ASE1|MGC1671|MGC3669 protein-coding 1353961 PRCA1 prostate cancer 1 1565627 337932 GDB:342066 1319153 PRCC papillary renal cell carcinoma (translocation-associated) In a subset of papillary renal cell carcinomas, a t(X;1)(p11;q21) chromosome translocation has been repeatedly reported and is thought to be the cause of the cancer. As a result of the translocation, the transcription factor TFE3 on the X chromosome becomes fused to this gene on chromosome 1. The fused gene results in the fusion of N-terminal proline-rich region of the protein encoded by this gene to the entire TFE3 protein. This protein has been shown to interact with the mitotic checkpoint protein MAD2B, which suggests that the dominant-negative effect of the fusion protein with TFE3 may lead to a mitotic checkpoint defect. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 17081983,15489334,14718574,14702039,12477932,11717438,11435707,11313942,10644981,8986805,8872474,8431910,7853572 5546 NM_005973,NM_199416,AL590666,CH471121,X99720,AA846273,AK126403,AK289872,BC004913,BC010450,BG746454,BM423590,BU942864,CR592333,CR592335,CR593687,CR597848,CR617255,X97124 NP_005964,NP_955448,CAI16350,CAI16351,EAW52908,EAW52909,CAA68060,BAF82561,AAH04913,AAH10450,CAA65791,Q5SZ06,Q92733,Q96FT4 Hs.516948 GDB:3888215 MGC17178|MGC4723|RCCP1|TPRC protein-coding 1603415 PRCD progressive rod-cone degeneration 16938425,14702039 768206 NM_001077620,AC015802,AK054729,AK125617,BC043413,CR600312,DQ390338 NP_001071088,ABD17429,Q00LT1 Hs.634380 RP36 protein-coding 1317272 PRCP prolylcarboxypeptidase (angiotensinase C) The protein encoded by this gene is a lysosomal prolylcarboxypeptidase, which cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 16681991,15489334,14996700,14702039,12768436,12477932,12123826,11830581,9325062,8344943,7626287,4297812,28321 5547 NM_005040,NM_199418,AP001646,CH471076,AK090847,AK091786,BC001500,BI827978,BX537480,CR594404,CR596369,CR597669,CR600721,CR610882,CR619958,CR625029,DB461615,L13977 NP_005031,NP_955450,EAW75074,EAW75075,EAW75076,AAH01500,AAA99891,P42785,ABM83994,ABM87320 Hs.523936 GDB:217039 HUMPCP|MGC2202|PCP protein-coding 1348235 PRD primary retinal dysplasia 8401512 5548 GDB:371323 1323391 PRDM1 PR domain containing 1, with ZNF domain This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. 1580863 1851123,18235046,18192112,18089822,17682124,17379744,17264218,17213024,17043021,16849320,16585013,16547239,16492805,16424392,16002735,14985713,12626569,12477932,12453881,12165517,12150891,11877292,11342629,11067898,9887105,8921366,8168136,8033216,16765445,16713569 639 NM_001198,NM_182907,AL022067,AL358952,CH471051,AF084199,AK129768,AK289556,AL832963,AY198414,AY198415,BC103832,BC103833,BC103834,BC103835 NP_001189,NP_878911,CAI42295,CAI42296,CAI18902,EAW48419,EAW48420,EAW48421,EAW48422,AAC33300,BAF82245,CAH56276,AAO45623,AAO45624,AAI03833,AAI03834,AAI03835,AAI03836,O75626,Q3SYG0,Q5T4E7,Q5T4E8,Q658W0,Q86WM7 Hs.436023 GDB:385053 BLIMP1|MGC118922|MGC118923|MGC118924|MGC118925|PRDI-BF1 protein-coding 1348926 PRDM10 PR domain containing 10 The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 12477932,12175877,10574462 56980 NM_020228,NM_199439,NM_199438,AP003041,AP003326,AP003327,CH471065,AB033057,AF275817,AF503171,AK000234,AL833172,BC112934,BC117415,BX648944,NM_199437 NP_955469,NP_064613,NP_955471,NP_955470,EAW67761,BAA86545,AAF87243,AAP30847,BAA91026,AAI12935,AAI17416,Q17R90,Q2KHR4,Q863Z2,Q9NQV6,Q9NXI4 Hs.275086 GDB:11507509 KIAA1231|MGC131802|PFM7 protein-coding 1343614 PRDM11 PR domain containing 11 14702039,14675547,10668202 56981 NM_020229,AC103681,AC103682,CH471064,AF275818,AK094792,AK097878 NP_064614,EAW68048,EAW68049,AAF87244,BAC04425,BAC05192,Q8N1K6,Q8N9F1,Q9NQV5,AAI48348 Hs.178715 GDB:11507511 PFM8 protein-coding 1351660 PRDM12 PR domain containing 12 1580863 14675547,14523459,11274145,10668202 59335 NM_021619,AL359092,CH471090,AY004252 NP_067632,EAW87940,AAG13447,Q9H4Q4 Hs.495311 GDB:11507513 PFM9 protein-coding 1322406 PRDM13 PR domain containing 13 1580863 14574404,12800201,11181995 59336 NM_021620,AL035087,AL137784,CH471051,AY004253,AY130010 NP_067633,CAI22063,CAI22064,CAI19763,CAI19764,EAW48461,EAW48462,AAG13448,AAN05093,Q5TGC2,Q7Z5E7,Q9H4Q3,AAI56414 Hs.287386 GDB:11507515 MU-MB-20.220|PFM10 protein-coding 1316344 PRDM14 PR domain containing 14 The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM14, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM] 1580863 18194669,17942894,15489334,14702039,14675547,12477932,10737800,10668202 63978 NM_024504,AC090574,CH471068,AF319458,AK022595,BC052311,BF770200 NP_078780,EAW86962,AAG39635,BAB14120,AAH52311,Q9GZV8,ABZ92370 Hs.287532 GDB:11507517 MGC59730|PFM11 protein-coding 1320736 PRDM15 PR domain containing 15 1580863 15904895,14702039,12477932,12036298,12036297,10830953 63977 NM_001040424,NM_022115,AB126081,AP001580,AP001618,AP001619,AP001745,AP002955,CH471079,AB051812,AB051813,AB051814,AB051815,AB209162,AF086532,AF276513,AF426259,AF426260,AK123273,AL109788,AL355710,AY063456,AY078498,BC067102 NP_001035514,NP_071398,BAA95527,EAX09584,EAX09585,EAX09586,EAX09587,BAD99015,BAD99016,BAD99017,BAD99018,BAD99019,BAD99020,BAD92399,AAF78093,AAM53515,AAM53516,AAL60596,AAL85487,AAH67102,P57071,Q4W8S0,Q4W8S1,Q4W8S3,Q4W8S4,Q4W8S5,Q59GE7,Q6NXF8 Hs.473893,Hs.711654 GDB:11507518 C21orf83|PFM15|ZNF298 protein-coding 1353101 PRDM16 PR domain containing 16 The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 11050005,18202228,16637659,16598304,16582916,14712237,14702039,14656887,12816872,12557231,12477932,12168954,11214970,8547101,4063527 63976 NM_022114,NM_199454,AL008733,AL354743,AL512383,AL590438,CH471130,AB051462,AB078876,AF294278,AI623202,AK093853,AK094178,BC110593,BQ897896 NP_071397,NP_955533,EAW71449,EAW71450,EAW71451,BAB21766,BAB84297,AAG33382,Q5VU52,Q5VU53,Q5VU54,Q9HAZ2 Hs.99500 GDB:11504541 KIAA1675|MEL1|PFM13 protein-coding 1348506 PRDM2 PR domain containing 2, with ZNF domain This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Three transcript variants encoding different isoforms have been found for this gene. 1580863 7590293,8654390,7538672,18037365,17963297,17922684,17693662,17356055,17205536,17103461,17081983,16953217,16710414,16501248,15809732,15579774,15488642,15309726,15302935,14633678,14534544,12477932,12472571,12082534,12002276,11719434,10737800,10706618,9766644,9334209,9006946,8661032,15765097 7799 BF378912,BM008289,BX647310,CR612351,D45132,U17838,U23736,NM_012231,NM_015866,NM_001007257,AF472587,AL031277,AL359771,AL583942,CH471167,AB208877,AK123605,AK124197,AW444997,BC014468,BC032768,BC140012 BAA08110,AAC50820,AAA87023,Q13029,Q59H82,Q5THJ0,Q5THJ1,Q6ZVR0,Q6ZW47,NP_036363,NP_056950,NP_001007258,CAB37643,CAI19343,CAI19344,CAH70942,CAH70943,EAW51695,EAW51696,EAW51697,EAW51698,BAD92114,BAC85659,BAC85801 Hs.371823 GDB:636678 HUMHOXY1|KMT8|MTB-ZF|RIZ|RIZ1|RIZ2 protein-coding 732265 PRDM4 PR domain containing 4 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. 1580863 10552934,15489334,15231748,14702039,12477932,16189514 11108 NM_012406,AC007622,AL832804,CH471054,AF144757,AK056378,AL133083,BC035581,BC068562,BU502236,CR611729 NP_036538,CAI46888,EAW97804,EAW97805,AAD55249,CAB61401,AAH35581,AAH68562,Q5GMF9,Q6NUK0,Q9UKN5,ABM82163,ABM85348 Hs.506655 GDB:9956809 MGC45046|PFM1 protein-coding 1318295 PRDM5 PR domain containing 5 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. 1580863 17699856,17636019,15077163,14702039,14675547,12477932,10668202 11107 NM_018699,AC025741,AC104068,AC104795,CH471056,AF272897,AK056352,AW341546,BC030136,BC047115,BC066942,BC121037,BC121038,BM563688,BX646150 NP_061169,EAX05267,EAX05268,EAX05269,AAF78077,AAH66942,AAI21038,AAI21039,Q0VAI9,Q0VAJ0,Q6NXQ7,Q9NQX1 Hs.666782,Hs.669312 GDB:9956805 PFM2 protein-coding 1350258 PRDM6 PR domain containing 6 1580863 93166 XM_927647,XM_937753,XM_001723255,AC008548,AC106786,AF272898,AF272899 XP_932740,XP_942846,XP_001723307,AAF78078,AAF78079,Q9NQX0 Hs.135118 GDB:9956801 protein-coding 1313164 PRDM7 PR domain containing 7 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. 1580863 14759258,14675547,10668202 11105 NM_001098173,NM_052996,AC133919,CH471184,AF274347,AF274348,AL137711,AM690991,AM690992,AM690993,BC107033 NP_001091643,NP_443722,EAW66653,EAW66654,EAW66655,EAW66656,EAW66657,AAF78084,AAF78085,CAM84449,CAM84450,CAM84451,AAI07034,Q08EM4,Q9NQW5 Hs.406695 GDB:9956799 MGC129525|PFM4 protein-coding 1323184 PRDM8 PR domain containing 8 1580863 15489334,14675547,12477932,10668202 56978 NM_001099403,AC021127,CH471057,AF275815,NM_020226,AI077328,AK292137,BC027929,BC058908,BC071584,BP219935 NP_064611,NP_001092873,EAX05851,EAX05852,EAX05853,EAX05854,EAX05855,EAX05856,EAX05857,EAX05858,AAF87241,BAF84826,AAH27929,AAH71584,Q05CA1,Q9NQV8 Hs.373642 GDB:11507520 PFM5 protein-coding 1349245 PRDM9 PR domain containing 9 The PR domain is a protein-protein interaction module of about 100 amino acids. PR domain-containing proteins, such as PRDM9, are often involved in transcriptional regulation (Jiang and Huang, 2000 [PubMed 10668202]).[supplied by OMIM] 18231586,14675547,10668202 56979 NM_020227,AC025451,CH471118,AF275816,DQ388610 NP_064612,EAX10738,EAX10739,EAX10740,AAF87242,ABD47939,Q27Q50,Q9NQV7 Hs.283096 GDB:11507522 PFM6 protein-coding 733744 PRDX1 peroxiredoxin 1 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Three transcript variants encoding the same protein have been identified for this gene. 1580863 16583711,16376335,16278420,16189514,16169070,15864612,15635413,15592455,15489334,15448164,15105503,14703116,12853451,12714748,12650976,12517450,12477932,12421812,12161445,12080185,12059788,11986303,11904290,11771746,11752456,11497302,10530780,16677601,17909037,8089076,18413821,18281480,18172504,17786348,17761673,17707450,17606720,17603937,17519234,17176052,17081065,16710414,10419887,9388242,9334312,8496166,8188254,8123050,8026862,7702627 5052 NM_181696,NM_181697,AL355480,AL451136,CH471059,CQ877459,DQ297142,X72296,AI912389,AK131049,AV691526,BC007063,BC021683,BM762399,BT019740,BU564066,CR407652,CR592546,CR593924,CR595111,CR612185,CR620467,L19184,NM_002574,X67951 NP_002565,NP_859047,NP_859048,CAI13095,CAI13096,EAX06975,EAX06976,EAX06977,EAX06978,EAX06979,EAX06980,EAX06981,EAX06982,CAH59516,ABB84465,AAH07063,AAH21683,AAV38545,CAG28580,AAA50464,CAA48137,Q06830,ABM84099,ABM87471 Hs.180909 GDB:230262 MSP23|NKEFA|PAG|PAGA|PAGB|PRX1|PRXI|TDPX2 protein-coding 733019 PRDX2 peroxiredoxin 2 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. The crystal structure of this protein has been resolved to 2.7 angstroms. Transcript variants encoding distinct isoforms have been identified for this gene. 1580863 8144038,16130169,12943237,11904290,18022079,18003920,17519234,17329258,17145963,17105810,16236267,15936593,15902258,15864612,15489334,15105503,14702039,12963914,12853451,12650976,12477932,12421812,12080185,11981869,11771746,11497302,11410278,10873855,10841776,10751418,9150948,8670254,8313871,8123012,8041738,8026862,7607688,1286667 7001 NM_181738,AC018761,CH471106,DQ231563,AK022395,AK289485,AL600939,BC000452,BC003022,BC039428,BC064138,BG705975,CR450356,CR541789,CR594988,CR598714,CR599094,CR599252,CR600194,CR601986,CR602223,CR602550,CR605244,CR606963,CR611026,CR615046,CR616344,NM_005809,CR620967,CR622487,CR622535,CR623841,CR624097,CR625757,L19185,X82321,Z22548 NP_005800,NP_859428,EAW84308,EAW84309,EAW84310,EAW84311,EAW84312,ABB02182,BAF82174,AAH00452,AAH03022,AAH39428,AAH64138,CAG29352,CAG46588,AAA50465,CAA57764,CAA80269,P32119,Q6P390,ABM86329,ABW03778 Hs.706768 GDB:594943 MGC4104|NKEFB|PRP|PRX2|PRXII|TDPX1|TSA protein-coding 1354492 PRDX2P1 peroxiredoxin 2 pseudogene 1 7607688 359844 NG_002915,AL356750 pseudo 1349610 PRDX3 peroxiredoxin 3 This gene encodes a protein with antioxidant function and is localized in the mitochondrion. This gene shows significant nucleotide sequence similarity to the gene coding for the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase. Expression of this gene product in E. coli deficient in the C22-subunit gene rescued resistance of the bacteria to alkylhydroperoxide. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologues suggest that these genes consist of a family that is responsible for regulation of cellular proliferation, differentiation, and antioxidant functions. Two transcript variants encoding two different isoforms have been found for this gene. 1580863 7733872,12492477,18205602,18195003,17893648,17574212,17548047,16236267,16189514,15750338,15489334,15280382,15164054,12650976,12530083,12477932,12080185,12059788,12011429,11904290,11771746,11591653,11285261,9373149,9363753,8125298,1286669 10935 NM_006793,NM_014098,AL355861,CH471066,DQ298752,AF118073,AK130897,AK222659,BC002685,BC007062,BC008435,BC009601,BC021691,BC022373,BC059169,BC111397,BT020007,CR450344,CR590042,CR595002,CR596127,CR597520,CR597664,CR601617,CR603233,CR604835,CR604854,CR605883,CR609024,CR609757,CR612566,CR614087,CR616834,CR618914,CR621101,CR621242,CR622286,CR622960,CR623202,CR625139,D49396,EF036492,X85129 NP_006784,NP_054817,CAI15802,EAW49396,EAW49397,EAW49398,EAW49399,ABB84468,AAF22017,BAD96379,AAH02685,AAH07062,AAH08435,AAH09601,AAH21691,AAH22373,AAH59169,AAI11398,AAV38810,CAG29340,BAA08389,ABO65078,CAA59443,P30048,Q14579,Q53HC2,Q9UHU0 Hs.523302,Hs.604267 GDB:9958884 AOP-1|AOP1|MER5|MGC104387|MGC24293|PRO1748|SP-22 protein-coding 731497 PRDX4 peroxiredoxin 4 The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. 1580863 9388242,17644091,16236267,15952740,15489334,12927788,12477932,12080185,12059788,11358524,16189514 10549 NM_006406,AC093011,CH471074,BC003609,BC007107,BC016770,CR541668,CR541705,CR594904,CR619377,U25182 NP_006397,EAW98996,AAH03609,AAH07107,AAH16770,CAG46469,CAG46506,AAB95175,Q13162,ABM84525,ABM85953 Hs.83383 GDB:11504543 AOE37-2|PRX-4 protein-coding 1347956 PRDX5 peroxiredoxin 5 This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. This protein interacts with peroxisome receptor 1. The crystal structure of this protein in its reduced form has been resolved to 1.5 angstrom resolution. This gene uses alternate in-frame translation initiation sites to generate mitochondrial or peroxisomal/cytoplasmic forms. Three transcript variants encoding distinct isoforms have been identified for this gene. 70622,1580863 10931946,10751410,10679306,10514471,10424490,10095767,1286669,10521424,17892856,17628720,17623739,16817890,16781710,15848167,15785239,15489334,15304327,15280035,15276323,15046979,14741336,14732291,14662316,12517450,12477932,12417342,11832487,11518528 70622 25824 BC113725,BU598032,CR457203,CR602131,CR606732,CR608340,CR609622,CR622804,CR625609,NM_181651,NM_012094,NM_181652,AP001453,AP003774,CS185549,DQ247769,AF110731,AF112212,AF124993,AF197952,AF231705,AF242525,AJ249483,BC110983,BC113723 AAI13726,CAG33484,P30044,NP_036226,NP_857634,NP_857635,CAJ42730,ABB05181,AAF03750,AAF17200,AAF27531,AAF04856,AAF78899,AAF99605,CAB62210,AAI10984,AAI13724 Hs.502823 GDB:10796823 ACR1|AOEB166|B166|MGC117264|MGC142283|MGC142285|PLP|PMP20|PRDX6|PRXV|SBBI10 protein-coding 1602898 PRDX6 peroxiredoxin 6 The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. 10893423,9497358,18025307,17980029,17653765,16710414,16330552,16236267,16186110,15941719,15890616,15592455,15489334,14751239,12665801,12650976,12477932,12193653,12121978,12059788,11677226,11233154,9587003,9050990,8999971,8313871,7788527,2730891,1602151,1286669,240188 9588 NM_004905,AL139142,CH471067,DQ230990,AJ844621,AK289352,BC025421,BC035857,BC053550,CR591733,CR594578,CR595962,CR598010,CR599058,CR600822,CR603796,CR604144,CR606922,CR608793,CR609026,CR611099,CR614645,CR618386,CR621206,CR623331,D14662 NP_004896,CAI20936,EAW90944,EAW90945,ABB02185,CAH59743,BAF82041,AAH35857,AAH53550,BAA03496,P30041 Hs.120,Hs.573688 1-Cys|AOP2|KIAA0106|MGC46173|NSGPx|PRX|aiPLA2|p29 protein-coding 1352675 PREB prolactin regulatory element binding This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. 61705,1580863 11252894,11031247,10194769,15761153,15489334,14702039,12735795,12477932,10920239 61705 10113 BC008658,BC012890,BC016472,BC016906,BC036185,BC041032,BG715668,CR599904,CR610473,CR610494,CR612201,CR620242,AC013403,AF227166,CH471053,CR622322,CR625761,AA629936,AF203687,AF226684,AK001976,NM_013388,AK023064,AK023405,AK292178,BC002765 AAH02765,AAH12890,AAH16472,AAH16906,AAH41032,NP_037520,AAX93170,AAF74572,Q05DB2,Q53SZ8,Q9HCU5,ABM83046,EAX00626,EAX00627,EAX00628,EAX00629,EAX00630,AAF19192,AAG01692,BAB14385,BAF84867 Hs.279784 GDB:9955247 MGC3467|SEC12 protein-coding 1604018 PRELID1 PRELI domain containing 1 10784606,15489334,14640972,12477932,10931946,10810093 27166 NM_013237,AC146507,CH471195,AF087858,AF111112,AF112203,AF151864,AF153607,AF201925,BC000007,BC007268,BC008307,BC008866,BC013733,BC013748,BC018904,BC078182,CR591452 NP_037369,EAW85021,EAW85022,EAW85023,AAP97168,AAF27195,AAD34101,AAD41089,AAF09255,AAH00007,AAH07268,AAH08307,AAH08866,AAH13733,AAH13748,AAH78182,AAF17191,Q9Y255,ABM81968,ABM85147 Hs.279529 CGI-106|MGC87972|PRELI|PX19 protein-coding 1606141 PRELID2 PRELI domain containing 2 14702039,12477932 153768 NM_138492,NM_205846,NM_182960,AC011355,AC011359,CH471062,AK095695,AK125215,BC012033,BC028175,BU167299,BU186346 NP_612501,NP_995318,NP_892005,EAW61857,EAW61858,BAC04611,AAH12033,Q8N945 Hs.314261 FLJ38376|MGC21644 protein-coding 732559 PRELP proline/arginine-rich end leucine-rich repeat protein The protein encoded by this gene is a leucine-rich repeat protein present in connective tissue extracellular matrix. This protein functions as a molecule anchoring basement membranes to the underlying connective tissue. This protein has been shown to bind type I collagen to basement membranes and type II collagen to cartilage. It also binds the basement membrane heparan sulfate proteoglycan perlecan. This protein is suggested to be involved in the pathogenesis of Hutchinson-Gilford progeria (HGP), which is reported to lack the binding of collagen in basement membranes and cartilage. Alternatively spliced transcript variants encoding the same protein have been observed. 7592739,17123807,17093390,15489334,14702039,12477932,12437997,12107410,11847210,9806887,8954791,8889548,16189514 5549 NM_002725,NM_201348,AL391817,CH471067,U41344,AK098245,BC032498,BE275567,BG569381,BI770477,BM705293,BQ181008,BQ182260,BQ706095,BQ777133,BQ778242,CA393630,CA776651,CR541787,CR542270,R83537,U29089 NP_002716,NP_958505,CAI17033,EAW91481,AAC18782,AAH32498,CAG46586,CAG47066,AAC50230,P51888,Q6FG38,Q6FHG6,Q7Z4B2 Hs.632481 GDB:696218 MGC45323|MST161|MSTP161|SLRR2A proline arginine-rich end leucine-rich repeat protein protein-coding 732518 PREP prolyl endopeptidase The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. 1580863 9695945,17401647,17324276,16700513,16092940,15838896,15380924,14702039,12603817,12477932,11792464,11137456,8893811,8889548,8089089,7959018,7588785,6389730,6358755,3891453,3525564,3480758,3292288,2858361,12173 5550 NM_002726,AL133406,AL139191,AL590871,CH471051,AB020018,AB028867,AY660966,BC030636,BM828521,BU728077,D21102,X74496 NP_002717,CAC36279,CAI42689,CAI21416,CAH72545,EAW48426,BAA86936,BAB19053,AAV70495,AAH30636,BAA04661,CAA52605,P48147,Q8N6D4,Q9BX53,Q9UM02,ABM84353,ABM87741 Hs.436564 GDB:362664 MGC16060|PE|PEP protein-coding 1606027 PREPL prolyl endopeptidase-like PREPL belongs to the prolyl oligopeptidase subfamily of serine peptidases (Parvari et al., 2005 [PubMed 15913950]).[supplied by OMIM] 16913837,16385448,16143824,15913950,12477932,12225859,11524703,9455477,7829101 9581 NM_001042386,NM_006036,AC013717,AC016703,CH471053,AB007896,AK025649,AK131463,AW020480,BC013193,BC151236,CR594385,NM_001042385,DQ023503,DQ023504,DQ023505,DQ023506,DQ023507 NP_001035844,NP_001035845,NP_006027,AAX88956,EAX00275,EAX00276,EAX00277,BAA23709,BAD18608,AAH13193,AAI51237,AAY89634,AAY89635,AAY89636,AAY89637,AAY89638,Q4J6C6,AAI43062,AAI43063 Hs.444349 FLJ16627|KIAA0436 protein-coding 736364 PRES prestin (motor protein) 53408 1603014 PREX1 phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 1 The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. 11955434,17698854,17565979,17227822,16301320,15545267,15489334,14702039,12477932,12168954,12123595,11780052,11549316,11230166,10718198,17353931 57580 NM_020820,AL035106,AL133342,AL445192,CH471077,AB037836,AJ320261,AK090860,AL136579,AL832913,BC009948,BC053616 NP_065871,CAI43186,CAI39886,EAW75684,EAW75685,EAW75686,BAA92653,CAC86401,CAB66514,CAH10614,AAH53616,Q8TCU6,AAI56403 Hs.153310 KIAA1415 protein-coding 1350272 PRF1 perforin 1 (pore forming protein) The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. 1599929,1599935,1580863 12368910,12270380,12131187,12072512,12009596,11586066,11565555,11179007,11082062,10583959,10072525,9671507,9557729,8770355,8676885,3419519,3261391,2592021,2480391,2425429,2420467,2395434,16967044,10779745,1505959,18311812,18275349,18198357,18190960,18097852,17873118,17724145,17674359,17652853,17475905,17311987,17266056,17222571,17055354,16914553,16908262,16860143,16791263,16770700,16720836,16611257,16611250,16524880,16374518,16344560,16278825,15998831,15921391,15818305,15728124,15641052,15576364,15489334,15342365,15336785,15164054,15113754,15028722,14996347,14757862,14697980,14634500,14512315,12919092,12672182,12574394,12477932,12372421,17627755,17477373 1599929,1599935 5551 NM_001083116,NM_005041,AL355344,CH471083,M31951,AB209604,BC047695,BC063043,BQ051559,BQ654088,DA816891,DA941244,L40557,M28393,X13224 NP_001076585,NP_005032,CAI41276,EAW54407,AAA60167,BAD92841,AAH47695,AAH63043,AAA63618,AAA60065,CAA31612,P14222 Hs.2200 GDB:118853 FLH2|HPLH2|MGC65093|P1|PFN1|PFP protein-coding 1603210 PRG-3 plasticity related gene 3 This gene encodes a member of the plasticity-related gene (PRG) family. Members of the PRG family mediate lipid phosphate phosphatase activity in neurons and are known to be involved in neuronal plasticity. The protein encoded by this gene does not perform its function through enzymatic phospholipid degradation. This gene is strongly expressed in brain. It shows dynamic expression regulation during brain development and neuronal excitation. Alternatively spliced transcript variants encoding the same protein have been observed. 14750979,12730698,12477932,9373149,8125298 54886 NM_207299,AL161631,AL357935,AL359893,CH471105,AK000307,AK225306,AY304515,AY337718,BC022465,BC029380,BI601921,BI914341,NM_017753,CA772610 NP_997182,NP_060223,EAW58938,EAW58939,EAW58940,EAW58941,BAA91072,AAP72152,AAQ73539,AAH22465,Q8TBJ4 Hs.382683 MGC26189|RP11-35N6.1 protein-coding 1602461 PRG2 plasticity-related gene 2 The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM] 14702039,12730698,12477932,11230166 79948 NM_024888,AC004799,AC006273,AC112703,CH471242,AF357888,AF541282,AK021597,AL136596,AY304517,AY436785,BC012339,BC017295 NP_079164,EAW61149,EAW61150,EAW61151,AAO85401,AAP57771,BAB13851,CAB66531,AAP72154,AAR10818,AAH12339,Q6T4P5 Hs.546439 LPPR3|LPR3|PRG-2 protein-coding 737332 PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. 1580863 1565101,8547309,17136616,17082653,16940047,15647258,15489334,14988014,14500673,12534990,12477932,12421832,12393403,12370176,12202480,12176337,12149249,11546794,11445557,11319227,11278835,11222751,11170744,10913121,10698680,10491647,10357815,9748166,9736715,8507662,8137941,7727786,7685339,7539791,7531438,7526035,7524900,7508748,3422083,3410852,3199069,3171483,2584934,2501794,2323577,16189514 5553 X65787,X14088,Y00809,CR600406,CR600722,CR601470,CR602064,CR602195,CR603205,CR603318,CR603683,CR604416,CR604651,CR604781,CR605665,CR605751,CR605780,CR605831,CR606081,CR606108,CR606261,CR606728,CR607616,CR607791,CR607959,CR608024,CR609247,CR609762,CR610280,CR610568,CR610865,CR611197,CR612910,CR613833,CR614707,CR615315,CR615431,CR615951,CR616445,CR617394,CR617406,CR617968,CR618388,CR618883,CR619331,CR619837,CR619867,CR619994,CR620046,CR620305,CR620478,CR621197,CR621593,CR622244,CR622493,CR622766,CR623831,CR624403,CR624461,CR624696,CR624849,CR625293,CR625586,CR625670,CR625915,CR626156,CR626455,CR626835,DQ846874,M35670,NM_002728,AP000781,M34462,BC005929,BQ445845,BX395670,CR450311,CR590212,CR590243,CR590778,CR591196,CR591375,CR591600,CR592750,CR593258,CR593804,CR593939,CR596367,CR597111,CR597334,CR598644,CR599398,CR599756,CR599931,CR600046,CR600307,M36805 CAA32250,CAA46670,CAA68751,P13727,ABM84106,ABM87481,ABI63361,AAA35965,NP_002719,AAA35796,AAH05929,CAG29307,AAA36203 Hs.512633 GDB:132400 BMPG|MBP|MBP1|MGC14537 proteoglycan 2, bone marrow protein-coding 1320501 PRG3 proteoglycan 3 1580863 10318872,17136616,15489334,12975309,12477932,11170744 10394 NM_006093,AF304354,AP000781,CH471076,AF132209,AY358930,BC069126,BC101613,BC113411 NP_006084,AAG41952,EAW73738,AAD24471,AAQ89289,AAH69126,AAI01614,AAI13412,Q9Y2Y8 Hs.251386 GDB:9956505 MBP2|MBPH|MGC126662|MGC141971 protein-coding 1319063 PRG4 proteoglycan 4 The protein encoded by this gene is a large proteoglycan specifically synthesized by chondrocytes located at the surface of articular cartilage, and also by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternatively spliced transcript variants have been described, but their full length nature has not been determined. 1580712,1580863 10545950,17404241,17343281,16710414,16429407,16344560,16335952,16000300,15710563,15302935,14976050,14702039,12783322,12475643,11124536,10743795,9920774,9550484,8185311 1580712 10216 NM_005807,AL133553,CH471067,AK057197,AK131434,AY653037,AY653038,CR595257,DA977744,U70136 NP_005798,EAW91201,EAW91202,BAD18580,AAT74745,AAT74746,AAB09089,Q92954 Hs.647723 GDB:9955719 CACP|FLJ32635|HAPO|JCAP|MSF|SZP|bG174L6.2 protein-coding 1343411 PRH1 proline-rich protein HaeIII subfamily 1 1580863 18037651,12477932,3009472,2993301,803013 5554 NM_006250,AC006518,AC018630,AC134349,CH471094,M13057,BC031043,BC064553,BC128192,BC133676,BI772091,BM476484,K03203 NP_006241,EAW96214,EAW96215,EAW96216,EAW96217,AAA98807,AAH64553,AAI28193,AAI33677,AAA60184 Hs.408153,Hs.631731 GDB:119515 MGC74956|Pa protein-coding 1346350 PRH2 proline-rich protein HaeIII subfamily 2 1580863 16203048,2993301,15693058,15489334,12477932,10858503,10627138,7390979,7380845,7228490,4053693,3710693,3687941,3196309,3009472,438215 5555 NM_005042,NM_001110213,AC006518,CH471094,M13058,BC095488,BC141916,BX538206,BX538207,BX641094,BX647085,BX647155,BX647156,BX648436,BX648656,BX648871,BX648901,CR749583,K03202 NP_005033,NP_001103683,EAW96219,EAW96220,EAW96221,AAA98808,AAH95488,AAI41917,CAE46044,Q68D45,CAH18378,AAA60183,P02810 Hs.631731 GDB:119516 DKFZp686B01256|DKFZp686F14256|DKFZp686I11251|DKFZp686J06255|DKFZp686L01253|DKFZp686L16244|DKFZp686M04243|DKFZp686N24248|Pr protein-coding 1626260 PRHOXNB parahox cluster neighbor 646625 NM_001105577,AL591024,CH471075 NP_001099047,EAX08423,A6NGE7 Hs.705356 protein-coding 1604565 PRIC285 peroxisomal proliferator-activated receptor A interacting complex 285 The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 16239304,15302935,14702039,12477932,12189208,12168954,11780052,11214970,10737800 85441 NM_001037335,NM_033405,AL121829,CH471077,AB051556,AB201715,AB232667,AF517673,AK023724,AK055611,AK074171,BC035130,BC036883,BC104974,BC112023,BC150283,BE062855,BE731343,BQ707207 NP_001032412,NP_208384,CAI95749,CAI95750,EAW75255,EAW75256,EAW75257,BAB21860,BAE46995,BAE46996,AAM74197,BAB70969,BAB84997,AAH35130,AAI04975,AAI12024,AAI50284,Q3C1U4,Q49AN2,Q4VXQ0,Q9BYK8 Hs.517180 FLJ00244|KIAA1769|MGC132634|MGC138228|PDIP-1 protein-coding 1346789 PRICKLE1 prickle homolog 1 (Drosophila) 1580863 14645515,17709376,17411337,17030191,16764822,15489334,15009665,14702039,12941693,12525887,12477932 144165 NM_153026,AC079600,AC079601,CH471111,AF399844,AF543759,AF543760,AK056189,AK056499,AK122877,AK122881,BC042722,BC114939,BC114940 NP_694571,EAW57854,EAW57855,AAQ03035,AAQ11824,AAQ11825,BAB71116,BAB71198,AAI14940,AAI14941,Q687H3,Q687H4,Q96MT3 Hs.524348,Hs.639400 FLJ31627|FLJ31937|MGC138902|MGC138903|RILP protein-coding 1315504 PRICKLE2 prickle homolog 2 (Drosophila) 1580863 11256614,17411337,16381901,15489336,15489334,14702039,12525887,12477932,11230166,11076863 166336 NM_198859,AC092040,AC136275,CH471055,AK055479,AK093899,AK127839,AL833539,BC040867,BC119002,BX537915,BX647797,BX649125,CR936678 NP_942559,EAW65428,EAW65429,AAI19003,CAD97898,Q0JT86,Q0JUZ5,Q7Z3G6,CAL37665,CAL38278 Hs.699317 DKFZp686D143|DKFZp686H1748|DKFZp686M031 protein-coding 1350042 PRICKLE3 prickle homolog 3 (Drosophila) LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. 1580863 17081983,15489334,15302935,12477932,9344658 4007 NM_006150,AF196779,CH471224,U93305,AJ011654,BC002468,BC016856,BT007423,CR457211 NP_006141,EAW50686,EAW50687,EAW50688,AAB92357,CAA09726,AAH02468,AAH16856,AAP36091,CAG33492,O43900,Q53XR5,Q6IAE4,ABM82400,ABM85588 Hs.632802 GDB:6053862 LMO6 protein-coding 1347495 PRICKLE4 prickle homolog 4 (Drosophila) C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM] 16344560,16341674,15702247,15489334,14702039,14574404,12477932,7923143 29964 NM_013397,AL365205,CH471081,AF216754,AJ420506,AK057184,AL137721,BC015975,BC018624,BC022274,BC027896,BC107435,BC110458,BC110459,BM770926,CR595842,CR606113,DA957684,L34839 NP_037529,CAI13185,CAM16153,CAM16154,CAO72057,EAX04061,EAX04062,EAX04063,EAX04064,AAF25683,CAB70893,AAH15975,AAH18624,AAH22274,AAI10459,AAI10460,Q2TBC4,Q2TBC5,Q96B49 Hs.525899 C6orf49|MGC120398|OBTP|OEBT protein-coding 1348091 PRIM1 primase, DNA, polypeptide 1 (49kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. 1580863 8026492,6693436,9822671,11473323,15489334,12477932,11917009,10504261,10441007,9705292,9373149,9268648,8530050,8125298,16189514 5557 NM_000946,AC117378,U89689,AA761682,AK223391,BC005266,BU167590,CD686660,CR612911,CR620245,CR621514,X74330 NP_000937,AAC51726,BAD97111,AAH05266,CAA52377,P49642,Q53F98,ABW03872,ABW03563 Hs.534339 GDB:125269 MGC12308|p49 primase, polypeptide 1, 49kda protein-coding 1353751 PRIM2 primase, DNA, polypeptide 2 (58kDa) The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the large, 58 kDa primase subunit. 1580863 8026492,6693436,9822671,11473323,17893144,15592455,15489334,14574404,12477932,12220650,10504261,9705292,9563011,9373149,8530050,8125298 5558 NM_000947,AL121958,AL121975,AL137184,AL162579,CH471081,AK223287,AK291915,BC017833,BC064931,X74331 NP_000938,CAI20534,CAI42767,CAH73686,CAI40673,EAX04480,EAX04481,EAX04482,BAF84604,AAH17833,AAH64931,CAA52378,P49643,Q9HCW0,ABZ92530,EAX04483 Hs.654580 GDB:125270 MGC75142|PRIM2A|p58 primase, polypeptide 2a, 58kda protein-coding 1315672 PRIMA1 proline rich membrane anchor 1 1580863 16909106,16489065,16429581,11804574 145270 NM_178013,AL132642,AL157858,CH471061,AY225516,AY225517 NP_821092,EAW81532,EAW81533,EAW81534,AAO74853,AAO74854,Q86XR5,AAI56511 Hs.432401 GDB:11507526 PRIMA protein-coding 732865 PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 69937,1580863,1600678,1600679,1300048 8557660,11546797,11165240,18359290,18347656,18276112,18195011,17088252,16847342,16806233,16466905,16405649,16344560,16054095,16026327,15489334,15485651,15024086,14985505,14985344,14976552,14709557,14702039,14557259,12890675,12869384,12853467,12847291,12791703,12788940,12477932,12391032,12368907,12194824,12091379,11997383,11903059,11500364,11171059,11052978,11042152,10862786,10760274,9857077,9845345,9224708,8910387,8626596,2900138,11913976 69937,1600678,1600679 5562 NM_206907,AC008810,CH471119,AB022017,AF100763,AK024252,BC012622,BC037303,BC048980,BQ049192,BQ716041,BX494823,CD512588,CR616720,DB236105,U22456,Y12856,NM_006251 NP_006242,NP_996790,EAW56000,EAW56001,BAA36547,AAD43027,AAH12622,AAH37303,AAH48980,AAA64850,CAA73361,Q13131,Q86VS1,Q96E92 Hs.43322 GDB:6065084 AMPK|AMPKa1|MGC33776|MGC57364 protein-coding 730888 PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. 1580863,1625266,1600678,1600679,1302556,1300048 7959015,16054041,15060529,10698692,18195011,17950019,17179156,16984726,16801347,16710414,16670154,16598851,16567511,16518831,16505254,16483872,16344560,16275868,16054096,16054095,16026327,15640157,15572372,15489334,15371448,15297373,15231718,15058305,14985505,14985344,14742438,14729328,14709557,14651849,14613924,12941758,12847291,12788940,12663462,12519745,12511592,12477932,12456889,11389854,10760274,10642499,9224708,9148944,8889548,7988703,1536860,1365882,12444247,12427743,12413941,12391032,12091379,12067722,11797013 1625266,1600678,1600679,1302556 5563 AAB32732 NM_006252,AC099789,AL035705,CH471059,AI732856,AL596521,AL710110,BC043195,BC069680,BC069740,BC069823,BM979925,CB985850,CF552084,DA710012,EF056019,U06454 NP_006243,EAX06650,AAH69680,AAH69740,AAH69823,ABK30810,AAA64745,AAB32732,P54646 Hs.437039 GDB:451905 AMPK|AMPK2|PRKAA protein-coding 735402 PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. 69937,1600678,1600679,1580863 17353931,9575201,18328803,18258605,18184930,18006825,17849173,17711846,17669398,17513605,17459875,17097050,17054914,17028174,17012231,16953221,16949049,16880506,16873412,16624523,16600998,16541075,8626596,8621499,8557660,8663446,16516166,16505254,16405649,15896711,15886229,15769985,15694368,15489334,15122253,15058305,15028725,14985505,14985344,14742438,14729328,14702039,14651849,14615481,12958172,12477932,10760274,10698692,9305909,9224708 69937,1600678,1600679 5564 NM_006253,AC002563,CH471054,U87276,AF022116,AJ224515,AK127820,BC001007,BC001056,BC001823,BC017671,BC018818,BU539177,BX537486,CR596319,U83994,Y12556 NP_006244,AAB71326,EAW98151,EAW98152,EAW98153,EAW98154,AAD00625,AAC98897,CAA12024,AAH01007,AAH01056,AAH01823,AAH17671,AAD09237,CAA73146,Q9Y478 Hs.6061 GDB:6065086 AMPK|HAMPKb|MGC17785 protein-coding 735943 PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. 69937,1600678,1600679,1580863 17353931,16054041,9575201,15060529,10698692,16710414,16505254,16344560,15489334,15058305,14702039,12490143,12477932,12433937,11752456,9224708,8889548,8626596,8621499,8557660 69937,1600678,1600679 5565 AV646012,AV660341,BC053610,BM563523,BM724633,BM769516,BU166852,BU619639,BX478507,CB111633,CR591350,NM_005399,AF504543,AL356378,CH471223,AI026131,AI638769,AJ224538,AK023717,AK292820,AL037763,AU118301 AAH53610,O43741,NP_005390,AAM74153,CAH72644,EAW50945,CAA12030,BAF85509 Hs.50732 GDB:6065087 MGC61468 protein-coding 1344608 PRKACA protein kinase, cAMP-dependent, catalytic, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580713,1580714,1580675,1580730,1580863 12931191,12927815,12917345,12853467,12851456,12842892,12819195,12773393,12697024,12654918,12639913,12630910,12578970,12574812,12569367,12538592,12534294,12529267,12509440,12477932,12475942,12469130,12459461,12441002,12435421,12417592,12399457,12392720,12387894,12369791,12237306,12213813,12196520,12175859,12167624,12154078,12147701,12089143,12054501,11997508,11997388,11986331,11971957,11953308,11903055,11895474,11884598,11875122,11853558,11834733,11805122,11799117,11751901,11749387,11744745,11696326,11694504,11604405,11551945,11533025,11510412,11500364,11443111,11438671,11416140,11359875,11336675,11331285,11311121,11297520,11283605,2843813,15630084,17353931,12626323,12721358,18178622,18064650,17959673,17909264,17908236,17895245,17895239,17884635,17693412,17646929,17594903,17581860,17565987,17553808,17545677,17317104,17296605,17192257,17151273,17081983,17068197,17053039,17043752,17008315,16966355,16920702,16793902,16751804,16642035,16621795,16601239,16476742,16302972,16301320,16179339,16166624,15975931,15914039,15905176,15843433,15703181,15655353,15642694,15546918,15489334,15371306,15345747,15212956,15024086,15016832,14997482,14981079,14724137,14709557,14702039,14701748,14641008,14636580,14597563,14576165,14532276,14500710,12954600,12950172,12947093,12938160,11279195,11278469,11181841,11181701,11181181,11171059,11158305,11158204,11104762,11050185,11039908,11035810,11029056,11027313,10982398,10969067,10949026,10922374,10906071,10898738,10880354,10874031,10851246,10841548,10837486,9407077,9405392,9374536,9366517,9353289,9341190,9278385,9247274,9199504,9155020,9151826,9150141,9126608,9115213,9109552,9099667,9091312,9050991,9030586,9029147,8999860,8939981,8884279,8816779,8810272,8664319,8663994,8663227,8626720,8626492,8612821,8521865,8506364,8404858,8395513,8390988,8380342,8376365,8248197,8226875,8182057,8163498,8132598,8117614,8058338,8027074,8002936,7946090,7929424,7905001,7876254,7822264,7759492,10837251,10830164,10753751,10739259,10737616,10728420,10698939,10667577,10653665,10604473,10601328,10576742,10571231,10559944,10454575,10446213,10400690,10366608,10228048,10090741,10051666,9891036,9867809,9832145,9771888,9735171,9730685,9724719,9722526,9710607,9679146,9677319,9671211,9660950,9565682,9546672,9525956,9468536,9417067,7706316,7688126,7615546,7566346,7525582,7520867,6262777,4092695,3759968,2874140,2833520,2722853,2548572,2504723,2500966,2413024,2394752,2369897,2176601,2155236,2117608,2114109,2108025,1978848,1706595,1545828,1406653,1377674,1375933,1375229,1322130,1281154,221492,33381,12972513,9540970,15629779,9213219,12595241,15047863,15213298,15147202,15797222,9060639,8647104,10734119,10581150 1580713,1580714,1580675,1580730 5566 NM_207518,AC022098,CH471106,DQ667173,AF208004,AF224718,AF239744,AK093803,AK131561,AK290147,AK292284,NM_002730,BC039846,BC108259,BU543573,CR625910,M80335,X07767 NP_002721,NP_997401,EAW84397,EAW84398,EAW84399,EAW84400,ABG25918,AAG35720,AAF75622,AAF76426,BAF82836,BAF84973,AAH39846,AAI08260,AAA60094,CAA30597,P17612,Q15136 GDB:120717 MGC102831|MGC48865|PKACA protein-coding 1321558 PRKACB protein kinase, cAMP-dependent, catalytic, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is a member of the Ser/Thr protein kinase family and is a catalytic subunit of cAMP-dependent protein kinase. Three alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580731 12420224,12626323,12721358,2342480,17594903,17549442,16949795,16889664,16710414,16381901,15723830,15489336,15489334,14744463,14702039,12842892,12798691,12682012,12477932,11589697,11172053,11076863,9730685,9671211,9636365,9278385,9151826,8662989,7946090,1978848,7688126,1551670,7684369,12972513,9540970 1580731 5567 NM_002731,NM_207578,NM_182948,AF538872,AL359504,AL450063,CH471097,DQ667174,AA761973,AB209189,AI445551,AK074904,AK091420,AY927364,AY927366,AY927367,AY927368,BC016285,BC035058,BX369882,BX485407,BX537705,BX641026,BX647515,CR608646,CR619935,CR936631,M34181 NP_002722,NP_997461,NP_891993,AAN16454,CAI16844,CAI16845,CAI16846,CAI16847,CAI16848,CAI16849,CAI16850,CAI16851,CAI16852,CAI16853,CAI16854,CAI16855,EAW73247,EAW73248,EAW73249,ABG25919,BAD92426,AAX19487,AAX19489,AAX19490,AAX19491,AAH16285,AAH35058,CAD97818,CAE46017,CAI56774,AAA60170,P22694,Q5T1K6,Q5T1K7,Q5T1K8,Q5T1K9,Q5T1L0,Q5T1L1,Q5T1L2,Q5T1L3,Q96B09,CAL37404,CAL38111,CAL38195,CAL38374 Hs.487325 GDB:120718 DKFZp781I2452|MGC41879|MGC9320|PKACB protein-coding 1345258 PRKACG protein kinase, cAMP-dependent, catalytic, gamma Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. 1580863 9278385,9151826,7946090,7688126,2342480,1978848,1339328,12972513,9540970,9598317,12626323,12721358,15489334,15313841,15039079,12842892,12477932,12361948,9730685,9671211 5568 NM_002732,AJ001597,AL162730,CH471089,DQ667175,BC039888 NP_002723,CAA04863,CAH71828,EAW62472,ABG25920,AAH39888,P22612,ABM81690,ABM84853 Hs.158029 GDB:120719 KAPG protein-coding 734389 PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1600678,1600679 9598317,2342480,15489334,15058305,14702039,12477932,11445078,10698692,9730685,9671211,9278385,9224708,9151826,8889548,8663446,8626596,8621499,8557660,7946090,7688126,1978848,16189514 1600678,1600679 5571 NM_212461,NM_002733,AC011603,CH471111,AK097606,BC000358,BG772337,BG772412,BI757340,BM667691,BM972308,BT007345,CB124830,CR590162,CR596899,CR604823,CR608916,CR611774,CR612109,CR613967,CR616664,CR620523 NP_997626,NP_002724,EAW58032,EAW58033,BAC05117,AAH00358,AAP36009,P54619,Q8N7V9 Hs.530862 GDB:6065088 AMPKG|MGC8666 protein-coding 1346463 PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 69937,70620,1580715,1580716,1580717,1580718,1580719,1600678,1600679,1580863 17483151,17431505,17255938,16806233,16487706,16344560,16275868,16115789,15877279,15766830,15673802,15611370,15489334,14702039,14519435,12853948,12716108,12690205,12546691,12477932,12397075,12015471,11827995,11748095,11445078,11407343,11371514,11112354,9847074,9730685,9671211,9278385,9224708,9151826,8621499,8557660,7946090,7688126,7657794,16054041,15060529,10698692,18403758,18195183,18158359,18033003,17990392,1978848,16189514 69937,70620,1580715,1580716,1580717,1580718,1580719,1600678,1600679 51422 NM_016203,NM_001040633,NM_024429,NG_007486,AACC02000108,AC006358,AC006966,AC074257,AC093583,CH471173,AB025580,AF087875,AI084919,AJ249976,AK001887,AK074675,AK092716,BC020540,BC068598,BM988346,BT007127,CR599607,DA084454,DA123009,DA187928,DA697901 NP_057287,NP_001035723,NP_077747,EAL24516,AAS02032,AAF03528,EAW53983,EAW53984,BAA84695,AAK00413,CAB65116,BAA91962,BAC11129,AAH20540,AAH68598,AAP35791,Q8NCK6,Q9UGJ0 Hs.647072 GDB:6065089 AAKG|AAKG2|CMH6|H91620p|WPWS protein-coding 1318621 PRKAG3 protein kinase, AMP-activated, gamma 3 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. 1600678,1600679,1580863 10698692,17701023,17518971,16306365,15489334,14970697,14559719,14503854,12477932,12391032,10818001,8626596 1600678,1600679 53632 AA256383,AF214519,AJ249977,BC098102,BC098255,BC098277,BC098306,CD628195,W94830,NM_017431,AC009974,CH471063 EAW70656,EAW70657,AAF73987,CAB65117,AAH98102,AAH98255,AAH98277,AAH98306,Q9UGI9,NP_059127 Hs.591634 GDB:10796825 AMPKG3 protein-coding 735732 PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Three alternatively spliced transcript variants encoding the same protein have been observed. 1581267,1581269,1580863 3426618,15655353,17353931,12626323,1832337,18223213,18059235,17906691,17904549,17884635,17081983,17079485,17047380,16963469,16728532,16728394,16728392,16582606,16407073,16396496,16394127,16189514,16020889,15982496,15846072,15604292,15489334,15371594,15345747,15331577,15299023,15231748,15096576,14702039,14500362,12896975,12829237,12812976,12804576,12759461,12752185,12665801,12634056,12571360,12477932,12475780,12471216,12424709,12213893,12203783,12119280,12119264,11839645,11834733,11115848,10974026,10973256,10889203,10864471,10764601,10228048,10026146,9852104,9730685,9671211,9405392,9326583,9278385,9151826,9110174,9065479,9050991,8977401,8698339,8619474,8609225,8407966,7946090,7688126,7678053,6333425,6287816,3479018,2902627,2310396,1978848,1889088,12972513,9540970,17168834,12606363,11414803 1581267,1581269 5573 A12295,NM_212472,NM_002734,NG_007093,AC079210,AF411298,CH471099,AA015682,AI074326,AK097580,AK124586,AL050038,AL535889,AY007115,BC036285,BC093042,BM928493,BU167718,BU188258,CR596916,CR600338,CR609854,CR615537,CR623371,CR626462,CR749311,M18468,M33336,S54705,S54707,S54709,S54711,NM_212471,Y07642 P10644,Q68DQ4,Q96P62,CAA01027,ABM82701,ABM85885,CAA68925,NP_997636,NP_997637,NP_002725,AAL05860,EAW89060,EAW89061,EAW89062,EAW89063,EAW89064,EAW89065,AAH36285,AAH93042,CAH18166,AAB50922,AAB50921 Hs.280342,Hs.659124 GDB:120313 CAR|CNC|CNC1|DKFZp779L0468|MGC17251|PKR1|PPNAD1|PRKAR1|TSE1 protein kinase, camp dependent regulatory, type i, alpha protein-coding 1345941 PRKAR1AP protein kinase, cAMP-dependent, regulatory, type I, alpha pseudogene 8468054 5574 NG_003073,L20252 GDB:138337 pseudo 1351287 PRKAR1B protein kinase, cAMP-dependent, regulatory, type I, beta 619653,1580863 1708242,12626323,16777052,14966294,12634056,12477932,12373096,12067711,12052877,11943777,10228048,9730685,9671211,9278385,9151826,8407966,7946090,7925653,7688126,3479018,1978848,1358799,17168834 619653 5575 NM_002735,AC144411,AC147651,CH236965,CH236966,CH471144,AK098822,AK289464,AL833563,BC013368,BC026734,BC036828,BC070478,M65066 NP_002726,EAW87163,EAW87164,EAW87165,EAW87166,BAF82153,AAH26734,AAH36828,AAH70478,AAC37564,P31321,Q6NS41,Q8N422 Hs.520851 GDB:127455 PRKAR1 protein-coding 732434 PRKAR2A protein kinase, cAMP-dependent, regulatory, type II, alpha cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). 1580714,1580863 9003463,12626323,10799517,17884635,17494870,17081989,17081983,16807684,16723498,16394127,14966294,12727975,12672969,12571360,12509440,12477932,12475942,12419802,12399526,12186851,12151104,12080047,11886862,11823486,11799244,11696326,11593431,11557526,11316952,11278869,11102458,10993882,10970852,10830164,10764601,10601332,10413680,10358086,10319321,10228048,10026146,9730685,9676433,9671211,9506976,9497389,9473338,9380760,9326583,9278385,9151826,9065479,8621616,8125992,8117614,7946090,7929081,7905481,7893490,7688126,6293815,2701845,2561973,2540040,2147685,1978848,1618839,1544918,12972513,9540970,17168834,12147701,16189514,9009265,11985580,9295304,11414803,10074940 1580714 5576 NM_004157,AC141002,AC144546,CH471055,X99455,AK293042,BC002763,BT007225,CF994284,X14968 NP_004148,EAW64925,EAW64926,EAW64927,EAW64928,CAA67817,BAF85731,AAH02763,AAP35889,CAA33094,P13861,Q9BUB1 Hs.631923 GDB:120314 MGC3606|PKR2|PRKAR2 protein kinase, camp-dependent, regulatory, type 2, alpha protein-coding 735310 PRKAR2B protein kinase, cAMP-dependent, regulatory, type II, beta cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. 1580863,2289157 1332964,17168834,12223483,11557526,2851102,12626323,17904549,16381901,15822905,15489336,15187164,14744463,14500661,12853948,12727985,12690205,12477932,12475942,11799244,11591815,11342137,11102458,11076863,10864471,10228048,9852104,9730685,9671211,9326583,9278385,9151826,8516283,8509414,7946090,7829531,7798223,7688126,7479855,3691190,3479018,1978848,1689049,1582408,1358799 2289157 5577 NM_002736,AC004492,AC006387,CH236947,CH471070,AK128639,AK291441,AL559918,BC014355,BC075800,BQ022817,CA405423,CF593944,CR604245,M31158 NP_002727,AAC08318,AAS07389,EAL24395,EAW83390,EAW83391,BAF84130,AAH75800,AAA60099,O60380,P31323,Q6DHZ2,Q75MP1,CAL37606,CAL37649,CAL38136,CAL38576 Hs.433068 GDB:127902 PRKAR2|RII-BETA protein kinase, camp dependent regulatory, type ii beta 1643388 BW321_H protein-coding 737062 PRKCA protein kinase C, alpha Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. 1581271,1581272,1581273,1581274,1625124,1580863,1601471,2292446,2292462,2292478,2292455,2292458,2292460,2292463,2292480,2293301,2292474 10825394,9814702,17983652,10194441,10856305,18401527,18281137,18239055,18184679,18162471,18089814,17974965,17951978,17936705,17934063,17923691,17786270,17724468,17689692,17666590,17591920,17588800,17545611,17525530,17459358,17455194,17341442,17334233,17321722,17307332,17255356,17212360,17197445,12893243,3755548,17192257,17171646,17157935,17081983,17061041,16984735,16979586,16964312,16964243,16963226,16942862,16939222,16890208,16775601,16751194,16710050,16697522,16673150,16642043,16620963,16571380,16517978,16338977,16300929,16297876,16236797,16099831,16087181,16081872,16080189,16079140,16027158,16006559,15917995,15894802,15814724,15757899,15691837,15627650,15613483,15603822,15583006,15576373,15572354,15564481,15563462,15555220,15531915,15509588,15504744,15499829,15489334,15456937,15381704,15284224,15277524,15272003,15269224,15233804,15228384,15221008,15192100,15169840,15159477,15155525,15134451,15123666,15121854,15084746,15051732,15003508,14960580,14739142,14709334,14702039,14699138,14654844,14636580,14606067,14596793,14532112,14527960,12972622,12960759,12958364,12954613,12952980,12950453,12930825,12919677,12907651,12896972,12890670,12881490,12878187,12843260,12839565,12824193,12805550,12783114,12773393,12754513,12754211,12724315,12704190,12670483,12665801,12652652,12647293,12632071,12630910,12618484,12610653,12609995,12586732,12569090,12551925,12536241,11502742,11498053,11466413,11438671,11399752,11397799,11387207,11343707,11342557,11325968,11325528,11316952,11306676,11298324,11284700,11278470,11278415,11273731,11248124,11246878,11238007,11237868,11154208,11145703,11123317,11121119,11104776,11085981,11063746,11044099,11557526,11517287,11042191,11042115,11035810,11024037,11007883,10993892,10970850,10934041,10912793,10874031,10871288,10861222,10858434,10848585,10843712,10831594,10823959,12064599,12058067,12056906,12054501,12052829,12034821,12000751,11950841,11937501,11930178,11919157,11916978,11910029,11904166,11901153,11895774,11895474,11884598,11864971,11836255,11833470,11805101,11788586,11781100,11751262,12080070,12077120,11749387,11744641,11741957,11740573,11705379,11700305,11688977,12531893,12519779,12509413,12490289,12486117,12482669,12477932,12459461,12435334,12431982,12412804,12399526,12372816,12372800,12359212,12351631,12351446,12269829,12175859,12173071,12162751,12149272,12147342,12138200,12138090,12135703,12134071,12112001,12097375,12093536,10806197,10779366,10766777,10760275,10739259,10698743,10667577,10628374,10617144,10531036,10501226,10477766,10441128,10433554,10400690,10366608,10339425,10212259,9935181,9853757,9839716,9837921,9738012,9722557,9721757,9716136,9694886,9677319,10816571,9671211,9624226,9571186,9566962,9556568,9506976,9468546,9446795,9405395,9389649,9374536,9353340,9346285,9341215,9341188,9244383,9242710,9155020,9151826,9109675,9099669,9099667,9072970,9030777,9030586,9016777,8940188,8940095,8914829,8856079,9647734,8848293,8557118,8530412,8506364,8477740,8473314,8463287,8404858,8390988,8321321,8206971,8089108,8080473,8077302,8034575,7935319,7926007,7925482,7876254,7876252,7822264,7759492,7646439,7644499,7595479,7539802,7525583,7523419,7522330,7520867,7499337,3160694,2996780,2946940,2941417,2584239,2500966,2473066,2413024,2336401,2182321,2155236,2114109,2061327,2040602,1827443,1714454,1663499,1553557,1454855,1377674,1375933,1374067,1335366,1322130,1321150,7850771,11744714,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,15488737,10491200,10641798,11312657,9139671,9032396,9049329,8178481,7540194,12595241,12682370,15069082,10383403,15383279,3472757,8798526,8663994,8663267,8662663,8647866,8631738,8627654,8617805 1581271,1581272,1581273,1581274,1625124,1601471,2292446,2292462,2292478,2292455,2292458,2292460,2292463,2292480,2293301,2292474 5578 NM_002737,AC005918,AC005988,AC006263,AC006947,AC009452,AC060796,AF395829,CH471099,CS098008,AA017296,AB209475,AF035594,AF035595,AF086287,AK055431,AK125425,AK130736,AL596674,AY633609,BC015855,BC053321,BC062759,BC071767,BC103691,BC107592,BC109273,BC109274,BC122530,BM015483,BQ018414,BU150006,BX648954,CA417000,M22199,X52479 NP_002728,AAK84184,EAW89014,CAJ00128,BAD92712,AAV33302,AAH53321,AAI09274,AAI09275,AAA60098,CAA36718,P17252,Q2TSD3,Q59FI5,Q7Z727 Hs.531704,Hs.708867 GDB:128015 AAG6|MGC129900|MGC129901|PKC-alpha|PKCA|PRKACA protein-coding 731404 PRKCB1 protein kinase C, beta 1 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1581275,1581276,1581274,1625511,1625515,1625513,1625519,1625520,1625524,1625124,1625525,1625527,1580863,1625516,729635,737729,1625512,1625514 9765207,3755548,10828076,9814702,10194441,10856305,18292183,18167130,18162471,10862698,10843712,10542228,10531036,10502411,10493829,10490850,10480917,10433554,9856494,9694886,9677319,9671211,9475183,9446795,9296367,9244383,9052983,9030777,9021343,8964400,8940188,8940095,8914829,8899875,8898866,8824244,8749392,8694767,8662663,8631738,8627654,8626698,8557118,8327493,8163551,8089108,8080473,8034726,8034666,7961692,7880442,7876254,7716516,7693453,7588787,7499337,3677994,3666134,3658678,2757032,2182321,2140056,1714454,1611098,1556124,16111671,16102725,16080189,16027742,16000408,15917249,15894802,15880462,15741241,15716278,15647851,15611095,15591231,15546881,15499829,15489334,15488737,15384959,15381704,15327405,15322124,15252133,15188402,15090600,15067001,15037605,14699138,14654845,14654844,14623273,14602581,14594954,14561740,14527960,12958364,12950453,12917261,12874455,12766174,12765965,12730099,12724308,12682249,12679936,12665801,12618484,12569090,12551925,12519779,12509514,12482669,12477932,12456365,12435880,12356761,12167592,12149258,12147342,12134071,12118249,12093536,12080070,12070292,12056906,12054501,12033257,12023512,11930178,11919157,11901153,11884598,11833470,11805327,11781100,11765038,11749387,11700305,11598012,11502742,11376011,11325528,11306676,11283022,11278415,11278382,11179083,11154208,11145703,11123317,11120743,11120522,11063746,11044099,11035810,11003709,10871288,18067888,17936705,17926183,17846295,17719638,17625596,17545677,17455194,17227757,17192257,17167344,17133356,17115053,17991733,17950644,17003377,16930534,16854530,16831865,16775601,16673150,16626305,16574993,16574992,16567829,16517978,16472601,16430878,16356855,16331690,16236825,16224561,1400396,1324914,1321150,7850771,11744714,15689238,11504923,11141237,2139676,1832084,7642615,3259291,8206685,1970444,8599832,10491200,10641798,10417813,12743109,16189514,15213298,10446219 1581275,1581276,1581274,1625511,1625515,1625513,1625519,1625520,1625524,1625124,1625525,1625527,1625516,729635,737729,1625512,1625514 5579 NM_002738,NM_212535,AC002299,AC010268,AC130448,AC130454,CH471145,D10022,M18254,M18255,S47311,X05971,X05972,X62532,AA613106,AI423262,BC036472,BI549165,M13975,X06318,X07109 NP_002729,NP_997700,AAB97933,AAB97934,EAW55796,EAW55797,EAW55798,EAW55799,BAA00912,AAA60096,AAA60097,AAD13852,CAA29395,CAA29396,CAA44393,AAH36472,AAA60095,CAA29634,CAA30130,P05771 Hs.460355 GDB:128016 MGC41878|PKC-beta|PKCB|PRKCB|PRKCB2 protein-coding 69026 PRKCD protein kinase C, delta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. Studies both in human and mice demonstrate that this kinase is involved in B cell signaling and in the regulation of growth, apoptosis, and differentiation of a variety of cell types. Alternatively spliced transcript variants encoding the same protein have been observed. 1581271,1581272,1580863,1642524,1642527,1642533,1642542,1642547,1642521,729667,1642523,1642532,1642534,1642535,1625605,1642550 16611985,8976194,15806174,15802551,15774464,15757899,15735693,15716280,15698833,15637072,15623535,15618968,15618223,15601585,15536414,15494525,15494216,15489375,15488737,15381704,15364919,15358156,15340077,15337529,15331751,15322115,15308560,15304079,15302935,15284289,15282327,15280372,15213298,15175028,15167677,15133032,15123666,15044084,15024053,14970215,14966116,14963018,14757756,18342628,18285462,18067888,18055557,18006831,17965192,17959229,17943181,17938203,17904606,17698617,17689924,17673262,17666590,17608772,17603046,17579121,17565738,17562707,17549442,17495969,17455223,17431791,17374730,17316401,17311929,17303575,17244494,17226776,17210122,17178875,17135298,17126298,17017122,16982614,16981720,16951338,16930534,16930532,16901898,16895913,16843828,16785226,16785027,16772297,16687414,16669786,16651613,16646678,16614259,16572399,16543902,16505477,16489124,16460683,16440330,16412390,16410245,16403461,16377624,16343435,16278684,16260419,16174865,16158048,16127146,16114000,16055706,16055435,16052516,16039614,16033904,16024783,15942654,15923181,15894802,15851033,15824731,10542228,10521505,10446219,10433554,10329716,10212259,10206975,10090741,9872331,9857183,9832145,9819435,9804763,9774685,9771888,9748166,9735171,9679146,9671211,9446795,9427282,9355737,9343414,9305920,9166747,8999969,8999860,8914829,8824244,8810272,8647875,8627654,8621594,8621384,8429024,8357834,8188219,8089108,14720513,14715667,14699138,14699137,14661062,14656938,14654844,14636897,14596936,14581488,14578358,14561742,14551213,14527959,12943720,12941954,12847277,12842900,12826681,12817007,12809676,12805378,12795334,12783114,12763138,12759450,12759229,12759139,12729789,12682370,12682249,12663471,12649167,12637327,12634498,12628935,12576423,12551925,12536241,12535519,12522006,12510148,12505880,12493764,12482669,12477932,12454008,12435421,12431976,12427758,12393602,12387894,12379484,12377781,12377207,12361954,12235228,12210761,12198130,12193405,12162751,12154081,12147630,12134071,12097319,12093536,12091471,12080077,12056906,12054501,12031982,12024011,12014986,11972023,11964256,11959144,11943682,11923305,11919157,11916978,11914583,11901191,11901153,11884618,11884598,11877440,11877428,11864971,11839738,11833470,11822877,11818507,11781095,11749387,11748588,11744693,11732925,11723252,11713246,11700305,11676480,11577086,11571229,11558579,11555640,11517230,11466390,11463380,11438522,11415434,11389095,11381116,11352632,11350938,11335711,11278470,11266508,11171046,11154208,11145703,11085981,11053353,11044099,11042191,11035810,11020388,10948194,10945993,10843712,10831594,10770950,10737616,10646504,10628374,10542257,7988719,7925449,7890750,7781068,7706316,7690989,7575560,7559455,7543024,2987962,2984676,2182321,1939065,1848190,1694174,1677563,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,10383403 1581271,1581272,1642524,1642527,1642533,1642542,1642547,1642521,729667,1642523,1642532,1642534,1642535,1625605,1642550 5580 NM_006254,NM_212539,AC097015,CH471055,AK130150,AW293041,BC043350,BC127261,BE048101,CD369320,CR596063,D10495,L07860,L07861,Z22521 NP_006245,NP_997704,EAW65279,EAW65280,AAH43350,BAA01381,AAA03176,AAA03175,CAA80249,Q05655,Q86XJ6 Hs.155342 GDB:128038 MAY1|MGC49908|PKCD|nPKC-delta protein-coding 1353748 PRKCDBP protein kinase C, delta binding protein The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. 633615,1580863 18059034,15940253,12477932,11691816,9054438 633615 112464 NM_145040,AC068733,AF408198,CH471064,AF339881,BC011585,BC038387,BQ434360,CR620659 NP_659477,AAK97528,EAW68733,AAK97572,AAH11585,Q8IY04,Q969G5,ABM83226,ABM86425 Hs.434044 GDB:9958040 HSRBC|MGC20400|SRBC protein-coding 736442 PRKCE protein kinase C, epsilon Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. 1581271,1580863 15003508,14739299,14720513,14709334,14656938,14643884,14600145,14532285,14523239,12972433,12970744,12941947,12893243,12857743,12794082,12783114,12782628,12665800,12663490,12640464,12536241,12505880,12505875,12482669,12477932,12385023,12372816,12372810,12205039,12198125,12185081,12134071,12121973,12093536,12055197,11997513,11994357,11968018,11964154,11956211,11934885,11919157,11897493,11884385,11877428,15147202,17018591,16930532,16793902,16785234,16698938,16637058,16461926,16266318,16079188,15967991,15949469,15894802,15827341,15815621,15809302,15784626,15718244,15698833,15691837,15632189,15627650,15572354,15559761,15509588,15499829,15489334,15467757,15381704,15368451,15364951,15284224,15233804,15190080,1382605,10438519,7935319,18292183,18237277,18184679,18171914,17991733,17851107,17785460,17678893,17668322,17628663,17616661,17569788,17561374,17434141,17382347,17215072,17038313,11839754,11834516,11833470,11809819,11788586,11740573,11739292,11709417,11696589,11553773,11350735,11154208,11140687,11085981,11062054,11044099,10945988,10862698,10848585,10843712,10801826,10679481,10536000,10407019,10212259,10092595,9822674,9671211,9446795,9360998,9312127,8940095,8914829,8824244,8627654,8621384,8567732,8346200,8224184,7877991,7523419,7522330,2182321,1374067,7850771,15689238,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,15488737,10491200,10641798,15078178,10417813,15213298,12223477,11504923 1581271 5581 NM_005400,AC017006,AC017078,AC079892,AC092600,AC115109,CH471053,U51244,AK128749,AL832345,BC051195,BC054052,BC109033,BC109034,CA424727,X65293 NP_005391,AAX93253,AAY14773,AAX93119,EAX00257,EAX00258,EAX00259,AAD08855,AAI09034,AAI09035,CAA46388,Q02156,Q53RT0 Hs.580351 GDB:128039 MGC125656|MGC125657|PKCE|nPKC-epsilon protein-coding 732858 PRKCG protein kinase C, gamma Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). 737791,1580863,1625124,737790 15364919,15148151,15014953,15003508,14699138,15467523,15381704,14694043,14676191,14676051,14654844,14561742,12958364,12954613,12950453,12644968,12569090,12551925,12519779,12482669,12477932,12471040,3755548,15808853,17708558,17659643,17562946,17508994,17343273,17233759,16828200,16713569,16394101,16193476,15964845,15894802,15851033,15489334,12417016,12164726,12147342,12134071,12093536,12091471,12054501,11919157,11884598,11833470,11749387,11502742,11325528,11306676,11278415,11154208,11123317,11063746,11044099,11042191,11035810,10939565,10871288,10862698,10843712,10547041,10542228,10531036,10441600,10433554,10212259,9814702,9786959,9694886,9671211,9576922,9545390,9446795,9345108,9244383,9030777,8940188,8940095,8914829,8662663,8631738,8627654,8432525,8375396,8080473,7606770,7499337,2460293,2307474,2182321,1714454,7850771,15689238,8206685,11504923,11141237,2139676,1832084,7642615,1970444,3259291,8599832,10491200,10641798 737791,1625124,737790 5582 NM_002739,AC008440,CH471135,AB209671,AF345987,BC047876,BI757265,M13977,Z15114 NP_002730,EAW72161,BAD92908,AAK13533,AAH47876,AAA60102,CAA78820,P05129,Q59EZ0 Hs.631564 GDB:128017 MGC57564|PKC-gamma|PKCC|PKCG|SCA14 protein-coding 735345 PRKCH protein kinase C, eta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. 1580863 1986216,18164711,17957454,17492941,17206144,17195206,17146445,16242915,15489897,15159477,14702039,14666709,12829844,12783114,12646210,12482669,12477932,12080077,11919157,11833470,11781100,11741879,11727958,11700305,11175348,11154208,11044099,10867018,10843712,10806212,10497222,9671211,9446795,8914829,8627654,8621384,7988719,2182321,1590767,1545821,1545811,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,16189514,12223477,15383279,8621660 5583 NM_006255,AF045569,AL138996,AL355916,CH471061,CQ834780,AK093241,AK290183,BC001000,BC037268,CA447784,CB994021,CD522081,M55284,S74620 NP_006246,AAD12779,EAW80800,EAW80801,EAW80802,CAH05605,BAF82872,AAH01000,AAH37268,AAA60100,AAB32724,P24723,Q71UV9,Q9BVQ0,ABM81816,ABM84971 Hs.333907 GDB:129009 MGC26269|MGC5363|PKC-L|PKCL|PRKCL|nPKC-eta protein kinase c-eta protein-coding 732937 PRKCI protein kinase C, iota This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. 1580863,2292460 8226978,12893243,14676191,11257119,11260256,18234642,18211289,17588663,17570678,17133348,16820593,16644736,16361262,16341674,16125198,16116079,15994303,15887250,15705582,15695176,15590654,15489334,15192100,15146197,15143057,15037605,15024028,14670960,14570876,12815264,12791393,12761193,12482669,12477932,12140376,11978974,11919157,11856176,11833470,11724794,11713277,11669302,11158308,11154208,11044099,10843712,10764742,10567402,10356400,9933579,9671211,9566925,9446795,9346882,8914829,8627654,8524286,7607695,2182321,7850771,15689238,11504923,11141237,2139676,1832084,7642615,3259291,8206685,1970444,8599832,10491200,10641798,16189514,12832475,10383403,12813044,8797824,12725730 2292460 5584 NM_002740,AC023891,AC073288,CH471052,AI521422,BC022016,BC042405,BM767350,BQ014217,CN412350,L18964,L33881 NP_002731,EAW78513,EAW78514,EAW78515,AAH22016,AAA60171,AAB17011,P41743 Hs.478199 GDB:266533 DXS1179E|MGC26534|PKCI|nPKC-iota protein kinase c, lambda protein-coding 1350580 PRKCQ protein kinase C, theta Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. 1625613,1625625,1625124,1625603,1625604,1625605,1625610,1580863 10383400,10636891,11788586,17588663,15790681,7686153,8444877,18250452,18184679,18086904,18037997,17904606,17846228,17548359,17339328,17192257,16964635,16849481,16309697,16264271,16252004,16210616,16009340,15894802,15802604,15749850,15592506,15522211,15489334,15364919,15358536,15289315,15217944,15192100,15164054,15150272,15064353,14985363,14985240,14699138,14673152,14525764,12890684,12730099,12618484,12504004,12482669,12477932,12421956,12097375,12077322,11956228,11919157,11833470,11772397,10491200,10641798,12734410,11222731,9617893,8663223,11410591,11358993,11337467,11154208,11120819,11114301,11044099,10980603,10843712,10746729,10725744,10716728,10652356,10512725,10433554,9856983,9671211,9606192,9516463,9446795,9353339,9268366,9260867,9252332,8985252,8914829,8816492,8627654,7790001,2182321,7850771,15689238,11504923,11141237,2139676,1832084,7642615,8206685,1970444,3259291,8599832 1625613,1625625,1625124,1625603,1625604,1625605,1625610 5588 AI570478,AU099414,AY702977,BC101465,BC113359,BF592799,BX647657,L01087,L07032,NM_006257,AL137145,AL158043,CH471072 AAU29340,AAI01466,AAI13360,AAA75571,AAA60101,Q04759,Q5JUN8,NP_006248,CAC10200,CAI15756,CAC12904,CAI16127,EAW86392,EAW86393,EAW86394 Hs.498570 GDB:136263 MGC126514|MGC141919|PRKCT|nPKC-theta protein-coding 1320068 PRKCSH protein kinase C substrate 80K-H This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER). This protein is an acidic phospho-protein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease (PCLD). Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1599188,1580863 2793184,9043864,16835903,15707389,15489334,15188177,15133510,15057895,12841677,12665801,12577059,12529853,12477932,11047756,10929008,10764838,10764837,10684806,9846883,9373149,9148925,8910335,8895530,8125298,2241894,1076483,16189514 1599188 5589 NM_002743,AC008481,AC024575,CH471106,U50326,AF144075,AK130663,AK225279,AK225390,AK290433,BC013586,BC015154,BC128412,BF984334,BG323695,BI254784,BT009858,CF618983,CR593077,CR596313,CR599733,CR600903,CR607290,CR609314,CR622755,J03075,Z36798,NM_001001329 NP_002734,EAW84215,EAW84216,EAW84217,EAW84218,EAW84219,AAA98668,AAF66686,BAF83122,AAH13586,AAH15154,AAI28413,AAP88860,NP_001001329,AAA52493,P14314 Hs.610830 GDB:119961,GDB:433949 AGE-R2|G19P1|PCLD|PLD1 protein-coding 736361 PRKCZ protein kinase C, zeta Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. 1581275,1580863,1642650,1642528 8224878,11755531,12893243,10770953,10477520,7925449,18313384,18166155,18094075,18067888,18050214,17850789,17786270,17682059,17544492,17541951,17525161,17446166,17398070,17389234,17369850,17346701,17313651,17081983,17024099,16943418,16940160,16931574,16798739,16792529,16710414,16644736,16611744,16407220,16344560,16287866,16011831,15956717,15935276,15894802,15887250,15870274,15808853,15721486,15630457,15604116,15544481,15526032,15499829,15489334,15381704,15362041,15358551,15313379,15285019,15254234,15210811,15172966,15159477,15081397,15069075,15003508,14744756,14702039,8940095,8914829,8856079,8797824,8627654,8621384,8375396,8206971,8089108,7522330,2182321,7850771,11504923,11141237,15689238,2139676,1832084,7642615,8206685,1970444,3259291,8599832,10491200,10641798,16189514,12431995,12813044,15665819,15761148,12223477,15707389,12093536,12056906,12021260,11960776,11937546,11919157,11833470,11788586,11781095,11765038,11740573,11739185,11684013,11585925,11535599,11481324,11462174,11381116,11260256,11222751,11158308,11154208,11145703,11063744,11053446,11044099,11016947,10843712,10831594,10779355,10764742,10764587,10747026,10733591,10636891,10620507,10617144,10527887,10383403,10357815,10356400,10339425,10195894,10085094,10022904,9971736,9768361,9756852,9748166,9689078,9671211,9566925,9512493,9455484,9446795,9388266,9305920,14699138,14697253,14654844,14576165,14570876,14500673,12970910,12920244,12905768,12905622,12900386,12887891,12882907,12881425,12791393,12783114,12774026,12748064,12671055,12551925,12493764,12482669,12477932,12435813,12244101,12242277,12234671,12223351,12162751,12139760,12134071,12105221 1581275,1642650,1642528 5590 NM_002744,NM_001033581,NM_001033582,AL162271,AL391845,AL590822,AL645703,CH471183,AB007974,AK097627,AK131526,AK290995,AL542576,AU134793,BC008058,BC014270,BT007082,CB152283,CR594257,CR609425,L14283,Z15108 NP_002735,NP_001028753,NP_001028754,CAI15438,CAI12484,EAW56130,EAW56131,BAF83684,AAH08058,AAH14270,AAP35745,AAA36488,CAA78813,Q05513,Q4G173,ABM83855,ABM84848,ABM87177 Hs.496255 GDB:128040 PKC-ZETA|PKC2 protein-coding 1351212 PRKD1 protein kinase D1 Members of the protein kinase C (PKC) family function in many extracellular receptor-mediated signal transduction pathways. See PRKCA (MIM 176960) for further background information. The PRKCM gene encodes a cytosolic serine-threonine kinase that binds to the trans-Golgi network and regulates the fission of transport carriers specifically destined to the cell surface.[supplied by OMIM] 15383279,11641411,11549247,11154208,11114197,11081517,11044099,10998417,10965134,10867018,10843712,10831594,10561498,10523301,10412981,10092600,10092595,9671211,9446795,8914829,8885868,8627654,2987962,2984676,2182321,5668,16005295,12223477,8119958,12893243,10856238,18239146,17804414,17703233,17635916,17591919,17570131,17492941,17442957,17389598,16166634,16006559,15755722,15728188,15367659,15146197,15123666,15093611,15024053,15003508,14743217,14607845,14550308,12859948,12778467,12646240,12637538,12628923,12482669,12393506,11978539,11948398,11919157,11903052,11884618,11833470,11741879 5587 NM_002742,AL135858,AL355053,AL356756,AL445884,CH471078,DQ485452,BX645735,CN412379,X75756 NP_002733,EAW65970,EAW65971,ABE96833,CAA53384,Q15139,Q1KKQ2,AAI60015 Hs.508999 PKC-MU|PKCM|PKD|PRKCM protein-coding 1342931 PRKD2 protein kinase D2 The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 11062248,18262756,17962809,17951978,17570131,17192257,17121608,17081983,17077180,16928771,16899224,16344560,16083285,15975900,15623513,15604256,14743217,14702039,12646243,12477932,12058027,11042152 25865 NM_016457,NM_001079880,NM_001079881,NM_001079882,AC008635,AC093503,CH471126,CQ783562,AF151021,AF309082,AK074673,AK075266,AK092896,AK095884,AL050147,BC015472,BC025307,CR593566,CR598235,CR603991,DA475821 NP_057541,NP_001073349,NP_001073350,NP_001073351,EAW57441,CAF86729,AAF36107,AAK01149,BAC11127,BAC11508,CAB43292,AAH15472,Q8N2H2,Q8NCK8,Q9BZL6,AAI56074,AAI56947 Hs.466987 HSPC187|PKD2 protein-coding 1353868 PRKD3 protein kinase D3 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. This kinase can be activated rapidly by the agonists of G protein-coupled receptors. It resides in both cytoplasm and nucleus, and its nuclear accumulation is found to be dramatically enhanced in response to its activation. This kinase can also be activated after B-cell antigen receptor (BCR) engagement, which requires intact phopholipase C gamma and the involvement of other PKC family members. 17196367,10231560,17081983,16964243,16380377,15824133,15496505,14743217,14702039,12676944,12506120,12482669,12477932,12080077,12054501,11919157,11884598,11833470,11749387,11154208,11044099,11035810,10843712,9671211,9446795,8914829,8627654,8274451,2182321 23683 NM_005813,AC007390,CH471053,AA631772,AB015982,AK027585,AK122883,AW515068,BC012820,BC030706,BI262400,BQ051077,BU173084,Z25429 NP_005804,AAY14817,EAX00398,EAX00399,BAA36514,AAH30706,CAA80916,O94806,Q15451,Q53TR7 Hs.660757,Hs.696257 EPK2|PKC-NU|PKD3|PRKCN|nPKC-NU protein-coding 1319072 PRKDC protein kinase, DNA-activated, catalytic polypeptide The PRKDC gene encodes the catalytic subunit of a nuclear DNA-dependent serine/threonine protein kinase (DNA-PK). The second component is the autoimmune antigen Ku (MIM 152690), which is encoded by the G22P1 gene on chromosome 22q. On its own, the catalytic subunit of DNA-PK is inactive and relies on the G22P1 component to direct it to the DNA and trigger its kinase activity; PRKDC must be bound to DNA to express its catalytic properties.[supplied by OMIM] 1580863,1599202 16759233,16713581,16600297,16566590,16565220,16540648,16520097,16510122,16397295,16314509,16046194,16001975,16000400,16000298,15936993,15811628,15758953,15723802,15698568,15677476,15668400,15668230,15640154,15635413,15592499,15574326,15520013,15493013,15456891,15389585,15381073,15377652,15353130,15324660,15313891,15302935,15286704,15279776,15262962,15258142,15163725,15123719,15071507,14966265,14766968,14744996,14734805,14704337,14654699,14627815,14612514,14556663,12897153,12756247,12750264,12672807,12547193,12519782,12509254,12477932,12379113,12231622,12186630,12171929,12065055,11955432,11904432,11889123,11883897,11867762,11801738,11790298,11749722,11739746,11731442,11709713,11551930,11418067,11406603,11279128,11160753,11158303,11101529,15194694,9442054,7671312,12023295,12065431,18451257,18449888,18422577,18172300,18158334,17963495,17932067,17786349,17786318,17764108,17593081,17526517,17441731,17389609,17287830,17242407,17241822,17196815,17189255,17081983,16874298,16857680,16785234,11070027,11030616,10951572,10823961,10747897,10673501,10567342,10547363,10470151,10467406,10464290,10446239,10441130,10213687,10207052,10064605,10026262,9774685,9766667,9765199,9748231,9722660,9679063,9632806,9586635,9525578,9435225,9430729,9398855,9372844,9363941,9362500,9325337,9312071,9295339,9284934,9139719,9038175,9035691,8917110,8804412,8464713,8422676,8407951,8364539,7638222,7594449,2507541,2247066,1597196,16075307,15875659,16751065,9488450,10608806,14743216,11000264,15678105,15664519 1599202 5591 NM_006904,AB052953,AC021236,AC103686,AY030284,AY316117,CH471068,L27425,U63630,U90415,AB208860,BC017494,BC024963,BC037968,CR607506,U34994,U35835,U47077,NM_001081640 NP_001075109,NP_008835,BAB79635,AAK40350,AAP69525,EAW86680,EAW86681,EAW86682,EAW86683,AAA79244,AAC52019,AAB51722,BAD92097,AAC50210,AAA79184,AAB39925,P78527 Hs.491682 GDB:234702 DNA-PKcs|DNAPK|DNPK1|HYRC|HYRC1|XRCC7|p350 protein-coding 1322442 PRKG1 protein kinase, cGMP-dependent, type I 1580863 16131665,15917860,15711749,15556942,15489334,15280395,15164054,15107017,15051728,14983059,14702039,14679200,14608379,14532276,12933804,12855709,12609995,12574812,12571245,12480535,12477932,12237340,12175859,12119292,12082086,11884369,11309393,11278298,11175347,10922374,10724174,10681529,10671526,10601315,10567269,10449420,10051666,9829964,9687510,9192852,8688081,8663267,8613202,8380342,8182057,8132598,7589584,2168396,1544322,1377674,10851246,2792381,18194177,17904578,17601797,16632465,16407222,16344560,16331690,16249377,16166082 5592 NM_006258,AC009986,AC022025,AC022537,AC026228,AC027118,AC068062,AC069079,AC073584,AL157399,AL391378,AL596105,AL607031,AL731537,AL928686,CH471083,Z92867,Z92868,AK093436,BC062688,BC127090,D45864,DA150150,DC310312,DC379897,EF560730,Y07512,NM_001098512 NP_001091982,NP_006249,CAI41304,CAI41305,CAI39625,CAI39626,CAI17114,CAI17115,CAI40742,CAI40743,CAI40744,EAW54140,EAW54141,CAB07436,CAB07437,AAH62688,AAI27091,BAA08297,ABQ59040,CAA68810,P14619,Q13976,Q5JP05,Q5SQU3,Q6P5T7 Hs.654556 GDB:127918 CGKI|DKFZp686K042|FLJ36117|MGC71944|PGK|PRKG1B|PRKGR1B|cGKI-BETA|cGKI-alpha protein-coding 733228 PRKG2 protein kinase, cGMP-dependent, type II 1580863 8607838,18262053,15555551,12764134,12571245,12477932,12054676,11278298,11076863,10531334,9535793,7543493,7498513,7493990,6547441 5593 NM_006259,AC098819,AC139722,CH471057,D70899,X94612 NP_006250,EAX05867,BAA18934,CAA64318,Q13237,AAI11598 Hs.570833 GDB:1230490 PRKGR2|cGKII protein kinase, cgmp- dependent, type ii protein-coding 1315476 PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 1580863 9687506,17353931,11256614,17452327,17125937,17081983,16982605,16861340,16424907,16169070,15815621,15489334,15299031,14702039,12874289,12477932,12368348,11985496,11526399,11230166,10336432,9373149,9010216,8125298,16189514 8575 AC009948,CH471058,AF072860,AF083033,AK093360,AK223107,AK290601,AL136615,AY251164,BC009470,BT007243,CR533525,CR590414,CR593120,CR595052,CR599358,CR603872,CR608584,CR612435,CR620463,CR624235,CR624706,AL833867,NM_003690 NP_003681,AAX88882,EAX11034,EAX11035,EAX11036,EAX11037,AAC25672,AAD33099,BAD96827,BAF83290,CAB66550,AAP20061,AAH09470,AAP35907,CAG38556,O75569,CAD38725 Hs.632540 GDB:9955683 HSD14|PACT|RAX protein-coding 1625087 PRKRAP1 protein kinase, interferon-inducible double stranded RNA dependent activator pseudogene 1 731716 XR_038302 pseudo 1316893 PRKRIP1 PRKR interacting protein 1 (IL11 inducible) 737633 16344560,16189514,14702039,12679338,12477932,15146077 737633 79706 NM_024653,AC073517,AC093668,CH471197,AF178686,AK023964,AK097289,AK098276,AK124753,AL833837,BC014298,BC063572,CA866825,CR598349,CR599339,CR602187,DA227367 NP_078929,EAW50241,EAW50242,EAW50243,AAQ13673,BAB14742,CAD38697,AAH14298,Q7LCM6,Q9H875,ABM84094,ABM87465 Hs.406395 C114|FLJ13902|FLJ40957 protein-coding 1320154 PRKRIR protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 1580863 9447982,15489334,14702039,14695705,12477932,12384512,11555640,10542257,9819435,8576172,1677563,16189514 5612 NM_004705,AP002360,CH471076,AF007393,AF081567,AK001522,AK291843,AL049970,BC021992,BC110304,BC117138,BC117140,BX641144 NP_004696,EAW74991,EAW74992,EAW74993,AAC39564,AAG01570,BAF84532,CAB43226,AAH21992,AAI10305,AAI17139,AAI17141,O43422,Q2YDB3 Hs.503315 GDB:9834188 DAP4|MGC102750|P52rIPK protein-coding 1353983 PRKX protein kinase, X-linked 1580863 7633447,17980165,15489334,12477932,12082174,10026146,9302280 5613 NM_005044,AC007685,CH471074,BC041073,DN996851,DN997580,X85545 NP_005035,EAW98726,EAW98727,EAW98728,AAH41073,CAA59733,P51817 Hs.390788 GDB:631691 PKX1 protein-coding 1351417 PRKXP1 protein kinase, X-linked, pseudogene 1 14702039,9154127 441733 NG_005679,AC027020,AK095793,Y10481,Y10483 Hs.12250,Hs.376894 GDB:5585706 pseudo 1353247 PRKXP2 protein kinase, X-linked, pseudogene 2 5615 GDB:5585707 1351248 PRKY protein kinase, Y-linked This gene encodes a member of the cAMP-dependent serine/threonine protein kinase family. This gene is located on chromosome Y, near the boundary of the pseudoautosomal region. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. 1580863 9154127,15489334,12815422,12477932,9889101,9302280,9088640,7633447 5616 NM_002760,AC007284,AC010143,CH471163,Y13927,AI929361,BC074851,BC074852,BG698237,Y10484,Y10485,Y15801 NP_002751,EAW59124,EAW59125,CAA74244,AAH74851,AAH74852,CAA71508,CAA71509,CAA75792,O43930 Hs.632287 GDB:631715 protein-coding 736187 PRL prolactin 1580863,1642556,1642558,1642557,1642576,1642555,1642559,1642560,1642574,1642575 12679477,12668883,12559630,12524085,12485910,12477932,12459032,12445833,12154211,12036601,11997178,11923474,11721703,11721702,11721699,11721698,11721696,11721695,11721694,11721693,11721692,11721691,11665977,11437600,10966654,10935542,10690937,9626554,9266104,9220021,9207433,8015553,6325171,6260780,6146607,3595901,2567059,2050267,1707126,1697858,1601394,1126929,925136,743954,10854700,7221563,18252943,18207134,18156207,18063946,18053149,18022314,18006851,18006630,17984948,17785459,17785327,17607310,17590551,17587788,17564716,17550976,17548836,17507624,17468404,17351784,17289576,17260098,17187171,16848233,16807649,16630538,16608881,16507890,16434456,16396693,16384849,16378242,16214922,16187706,16133148,16103113,16045928,15993365,15645137,15504038,15489334,15218000,15192082,15063762,15031321,15026085,14984591,14647416,14645190,14580717,14565846,12928232,12729745,12687277 1642556,1642558,1642557,1642576,1642555,1642559,1642560,1642574,1642575 5617 NM_000948,AF068859,AL023883,CH471087,X00540,BC015850,BC088370,CR596710,CR608839,D00411,DQ839492,M29386,U75583,V00566,X54393,X54394 NP_000939,AAD12943,CAI20469,EAW55435,CAA25214,AAH15850,AAH88370,BAA00312,ABI63353,AAA60173,AAB70858,CAA23829,CAA38263,CAA38264,CAA38265,P01236,Q5I0G2,Q5THQ0,Q9UP51,ABM84054,ABM87406 Hs.1905 GDB:119517 protein-coding 1352450 PRLH prolactin releasing hormone 729520,1580863,1641829 9607765,15891064,15489334,12477932,12126742,11523913,11030716,10599733,10498338,10475064 729520,1641829 51052 BC069081,BC069284,AB015419,NM_015893,AC104667,CH471063 BAA29027,AAH69081,AAH69284,P81277,Q53QV7,NP_056977,AAY24046,EAW71117 Hs.247710 PRH|PRRP protein-coding 732732 PRLHR prolactin releasing hormone receptor PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM] 633970,1580863,1641829,1641832 8666380,9607765,16344560,15885496,15752583,15489334,15164054,14691196,12716769,12477932,12417311,12126742,11923475,11641419,11030716,10498338,10475064 633970,1641829,1641832 2834 NM_004248,AB048946,AL356865,CH471066,U32672,AB015745,AK290461,AL528009,BC095539,BC101490,BC101492,BX471829,DA262254,EF577402 NP_004239,BAB83030,CAH73066,EAW49413,EAW49414,AAC50504,BAA31159,BAF83150,AAH95539,AAI01491,AAI01493,ABQ52422,P49683 Hs.248119 GDB:439157 GPR10|GR3|MGC126539|MGC126541|PrRPR protein-coding 730871 PRLR prolactin receptor 1580863 10585417,7984244,15618286,9009200,18316598,18252943,18207134,18081308,18053149,17785459,17525486,17177141,16785991,16740656,16651265,16556730,16434456,16381901,16278670,16103113,15700312,15504038,15489336,15489334,15135067,15119991,15082796,14522994,12937675,12819209,12679477,12668872,12559630,12477932,12477494,12391112,12351696,12021177,11997178,11721697,11713228,11518703,11328862,11076863,10991949,10966654,10772872,10455112,10221598,10084611,9888587,9626554,9556914,9544990,9341613,9202403,8550784,7768923,7768908,7706371,7534043,6331435,6278192,2558309,2369845,1617425,1559983 5618 NM_000949,AC010368,AC091851,AF091870,CH471119,S75672,AF166329,AF349939,AF416618,AF416619,AF492470,AF493068,AF493069,AF512796,AY062295,AF214012,BC059392,M31661,S78505 NP_000940,AAD32032,EAW55913,EAW55914,EAW55915,EAW55916,EAW55917,EAW55918,EAW55919,AAB33685,AAD49855,AAK32703,AAL23914,AAL23915,AAM18048,AAM11660,AAM11661,AAL40855,AAH59392,AAA60174,AAB34470,P16471,Q0JSR3,Q16264,Q8TD76,Q8WWV7,CAL38328,CAL38451 Hs.368587 GDB:120315 hPRLrI protein-coding 1350304 PRM1 protamine 1 1580863 2081589,18390561,18381856,18309899,17494104,17011555,16989827,16112646,15489334,14701833,12569175,12477932,10659848,10390541,8662749,8466000,8263493,7983046,7865133,7721781,4027356,3658707,3527226,2613245,2370044,8647104 5619 S68144,U15422,Z46940,AY651260,BC003673,BT006746,CD360017,CR595410,CR601490,CR607534,CR612045,CR625800,Y00443,NM_002761,AB281136,AC009121,AF215707,CH471112,M29706,M60331 AAB29321,AAC50486,CAA87065,AAX35688,AAH03673,AAP35392,CAA68499,P04553,Q3MN80,ABM83413,ABM86624,NP_002752,BAF36637,AAF34620,EAW85157,AAA60191,AAA63249 Hs.2909 GDB:120316 P1 protein-coding 737276 PRM2 protamine 2 1580863 10898591,10659848,9795985,9282840,9239704,8513794,8024562,7983046,7714151,3956509,3527226,3412906,3403514,2384091,2370044,1907596,1889406,11686187,2081589,18309899,17113348,17011555,16989827,16632464,15670415,15489334,12569175,12524352,12477932,11869379 5620 NM_002762,AB281137,AC009121,AF215713,CH471112,M60332,U15422,Z46940,AK130957,AK131573,AK292447,BC005303,BC042671,BC066338,CR590545,CR591526,CR591903,CR595797,CR596622,CR598852,CR603750,CR609803,CR621790,X07862 NP_002753,BAF36638,AAF34632,EAW85158,EAW85159,AAA63250,AAC50487,CAA87066,BAD18705,BAF85136,AAH05303,AAH42671,AAH66338,CAA30710,P04554,Q1LZN1,Q6ZMM0 Hs.2324 GDB:125271 FLJ27447 protein-coding 1345034 PRM3 protamine 3 729500 16581810,9827065,8720108,2081589,1385303 729500 58531 NM_021247,AC009121,CH471112,Z46940 NP_067070,EAW85160,CAB92526,Q9NNZ6 Hs.259636 GDB:10797026 protein-coding 731338 PRMT1 protein arginine methyltransferase 1 The PRMT1 gene encodes a protein arginine methyltransferase that functions as a histone methyltransferase specific for H4 (see MIM 602822).[supplied by OMIM] 1359044,1300048,1580863,737807 9029147,8663146,9545638,10749851,18316480,17971302,17891136,17848568,17550233,17264152,17052457,16879614,16861234,16713569,16492668,16294047,16294045,16189514,16169070,16159886,15741314,15737635,15364944,15345777,15324660,15186775,15084609,14734530,14583623,12737817,12718890,12529443,12509629,12477932,12183049,12171910,11856371,11850402,11448779,11387442,11257227,11152681,11097842,11050077,10899106,10772824,10652299,9891755,8675017,8288564,4924231,17353931,11483748,15674337 1359044,737807 3276 NM_001536,NM_198318,AC011495,AF222689,CH471177,AF085918,AL711069,AY775289,BC019268,BC109282,BC109283,CR407608,CR593945,CR593955,CR594562,CR595920,CR597161,NM_198319,CR597475,CR597777,CR606998,CR607814,CR608047,CR612299,CR614514,CR615809,CR618569,CR620963,CR622298,CR625308,D66904,Y10805,Y10806,Y10807 NP_938075,NP_001527,NP_938074,AAF62893,AAF62894,AAF62895,EAW52518,EAW52519,EAW52520,EAW52521,AAV41837,AAH19268,AAI09283,AAI09284,CAG28536,BAA11029,CAA71763,CAA71764,CAA71765,Q2VP93,Q5U8W9,Q6LEU5,Q8WUW5,Q99873,ABZ92509 Hs.20521 GDB:3929214 ANM1|HCP1|HRMT1L2|IR1B4 heterogeneous nuclear ribonucleoproteins methyltransferase-like 2 (s. cerevisiae) protein-coding 1605435 PRMT2 protein arginine methyltransferase 2 12039952,9545638,17587566,16648481,16189514,15489334,14702039,14667819,12477932,11513728,10830953,9373149,9196002,9110174,8619474,8125298 3275 NM_206962,NM_001535,AP000339,AP000340,CH471079,AF059319,AK095641,AK123352,AK123650,AK124494,AK223157,AL109794,AL833586,AY786414,BC000727,BC038765,BC100026,BF683143,BQ421001,CB529922,CR541804,CR600912,CR601878,U79286,U80213,X99209 Q6FHF0,Q99781,Q9H3L6,ABM83052,ABM86245,NP_996845,NP_001526,EAX09258,EAX09259,EAX09260,EAX09261,EAX09262,EAX09263,EAX09264,EAX09265,AAG43116,BAD96877,CAB52454,AAV48568,AAH00727,AAH38765,AAI00027,CAG46603,AAB50221,AAB48437,CAA67599,P55345,Q498Y5,Q49AF9,Q53FX4,Q5U7D4 Hs.154163 GDB:3929213 HRMT1L1|MGC111373 protein-coding 1604394 PRMT3 protein arginine methyltransferase 3 Type I protein arginine N-methyltransferases (PRMTs), such as PRMT3, catalyze the formation of asymmetric N(G),N(G)-dimethylarginine (ADMA) residues in proteins (Tang et al., 1998 [PubMed 9642256]).[supplied by OMIM] 9642256,15489334,15334060,15175657,14702039,12477932,10224081 10196 AC025972,AC108005,CH471064,AF059531,AK125039,AK129984,BC019339,BC037544,BC047226,BC064831,NM_005788 NP_005779,EAW68333,EAW68334,EAW68335,EAW68336,AAC39837,AAH19339,AAH37544,AAH64831,O60678,Q8WUV3 Hs.152337 GDB:10796799 HRMT1L3 protein-coding 1319178 PRMT5 protein arginine methyltransferase 5 1580863,1359044 15369763,9843966,15130578,18347060,17709427,17627275,17573539,17437848,16712789,16087681,15737618,15701830,15670829,15489334,15485929,15324660,14702039,14583623,14559996,12718890,12665801,12477932,12358155,12101096,11756452,11747828,11720283,11713266,11152681,10734105,10531356,9556550 1359044 10419 CR456741,CR592633,CR600238,CR618721,CR621553,CR623163,CR624259,CR625183,CR625282,CR625472,NM_001039619,NM_006109,AL132780,CH471078,CQ783364,AF015913,AF167572,AK027737,AK075251,AL833612,BC005820,BC025979 CAG33022,AAH25979,O14744,Q96K27,ABM84347,ABM87772,NP_001034708,NP_006100,EAW66217,EAW66218,EAW66219,EAW66220,EAW66221,CAF86569,AAB66581,AAF04502,BAB55331 Hs.367854 GDB:9956951 HRMT1L5|IBP72|JBP1|SKB1|SKB1Hs skb1 homolog (s. pombe) protein-coding 1312299 PRMT6 protein arginine methyltransferase 6 Protein arginine N-methyltransferases, such as PRMT6, catalyze the sequential transfer of a methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins to form methylated arginine derivatives and S-adenosyl-L-homocysteine.[supplied by OMIM] 1359044,1580863 16293633,18079182,17898714,17267505,17176473,15596808,15489334,14702039,12477932,11724789,9373149,8125298,17169163,18077460 1359044 55170 NM_018137,AL355539,CH471156,AK001421,AK226009,AY043278,BC002729,BC013866,BC063446,BC073866,CR621406 NP_060607,EAW51248,BAA91681,AAK85733,AAH02729,AAH63446,AAH73866,Q96LA8 Hs.26006 FLJ10559|HRMT1L6 hmt1 hnrnp methyltransferase-like 6 (s. cerevisiae) protein-coding 1601867 PRMT7 protein arginine methyltransferase 7 Arginine methylation is an apparently irreversible protein modification catalyzed by arginine methyltransferases, such as PMT7, using S-adenosylmethionine (AdoMet) as the methyl donor. Arginine methylation is implicated in signal transduction, RNA transport, and RNA splicing (Miranda et al., 2004 [PubMed 15044439]).[supplied by OMIM] 15044439,15494416,16051612,17709427,15489334,14702039,12477932,11572484 54496 NM_019023,AC020978,AC099521,CH471092,AB067520,AK001502,AK022739,AK056647,AK097175,BC000146,CR604457,CR610385 NP_061896,EAW83224,EAW83225,EAW83226,EAW83227,EAW83228,EAW83229,EAW83230,EAW83231,EAW83232,BAB67826,BAA91726,BAB14215,AAH00146,Q9NVM4 Hs.700614 FLJ10640|KIAA1933 protein-coding 1605979 PRMT8 protein arginine methyltransferase 8 Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM] 16051612,17925405,15489334,14702039,12477932,16189514 56341 NM_019854,AC005831,AC005908,AC005925,CH471116,AB209027,AF263539,AK026786,AK093651,BC022458 NP_062828,EAW88861,EAW88862,BAD92264,AAF91390,BAB15553,AAH22458,Q59GT2,Q9H5R7,Q9NR22,ABM83307,ABM86519 Hs.504530 HRMT1L3|HRMT1L4 protein-coding 1315338 PRND prion protein 2 (dublet) This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. 1580863 17894227,17390034,17201176,17047093,16889908,16421231,15986038,15933804,15489334,15246873,15203115,15158907,14970845,14745079,12975309,12595265,12586339,12514748,12477932,12399017,12200435,11780052,11734625,11702213,11063595,10825657,10577243,10525406 23627 NM_012409,AF106918,AL133396,CH471133,DQ408534,EU009729,AF086354,AF187843,AF187844,AY358985,BC043644 NP_036541,AAF02424,CAB75502,EAX10448,ABD63007,ABU40603,AAG43448,AAG43449,AAQ89344,AAH43644,Q27H88,Q9UKY0 Hs.406696 GDB:11501131 DOPPEL|DPL|MGC41841|PrPLP|dJ1068H6.4 protein-coding 737306 PRNP prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. Alternative splicing results in multiple transcript variants encoding the same protein. 1599946,1599950,1580863 16294306,16286452,16004966,3755672,18436646,18425766,16824036,16764594,16750169,16713569,16704797,16674609,16672189,16582585,16580884,16547836,16545382,16543824,16537913,16533975,16519692,16478730,16460908,16443601,16434486,16432880,16344560,16342955,16324095,16315279,16314483,16298483,16287045,16263114,16217673,16215462,16215457,16192387,16187142,16175355,16156720,16120605,16119432,16099923,16099550,16051190,16025285,16009550,15997418,15987701,15946217,15862295,15850959,15846375,15837581,15775715,15748158,15684434,15639746,15609351,15591591,15583862,15557533,15555583,15539564,15489334,15488240,15469448,15342556,15304595,15277640,15266305,18423780,18413481,18275852,18247504,18236005,18218718,18217885,18204788,18191917,18025469,18006836,17996224,17987393,17965961,17873292,17827389,17822808,17709704,17570906,17560545,17559305,17539938,17519231,17497959,17472702,17449139,17414209,17410475,17409275,17385076,17334659,17313881,17276393,17260961,17242357,17202849,17192785,17156017,17149767,17134829,17121821,17092648,17047093,17029361,17023178,16987816,16950206,16934224,16925523,16921242,16914329,16908519,16897605,16889908,16858508,16847689,16847141,16831968,16825956,16825951,15258222,15247220,15215178,15208260,15203115,15148589,15146195,15140132,15131108,15123682,15050367,14983221,14970845,14761942,14745079,14744790,14702039,14668351,14645231,14623188,14616310,14610121,14593432,14576159,14519851,10954699,10900000,10790216,10631141,10618385,10581485,10090891,9799790,9786248,9482303,9473220,9384372,9266722,8962161,8909447,8797472,8797471,8676499,8461023,8364585,8105771,7913755,7906019,7902972,7902693,7783876,7699395,7642585,10987652,10970892,12970341,12952977,12946346,12917444,12917418,12867116,12805563,12796830,12778138,12719777,12694397,12692258,12690204,12684540,12682740,12679875,12679034,12659837,12645301,12621436,12601712,12590162,12568340,12547204,12543108,12477932,12464104,12459456,12399017,12392052,12359724,12356908,12356762,12205650,12186633,12161431,12093732,12084159,12070046,12034503,11986958,11961239,11882649,11840201,11833672,11787070,11780052,11775001,11756421,11709001,11704923,11684342,11593450,11584448,11571277,11559357,11283320,11278562,11244488,11220690,11161453,11120925,11100730,11062072,11060296,11032800,10988071,7630420,7592679,7572084,7485229,3014653,2783132,2572450,2567794,2564168,1671440,1439789,1363810,1363802,1357663,1352724,1351748,1347910,1346338,16189514,11438139,15145944,1677164,1672107,2180366,2159587,1736177,1683708,1678248 1599946,1599950 5621 NM_000311,NM_001080121,NM_183079,NM_001080122,NM_001080123,AF030575,AF076976,AF085477,AF315723,AL133396,AY219882,AY219883,AY458651,CH471133,DQ408531,M81929,M81930,S71208,S71210,S71212,S79978,S80539,S80732,S80743,S83341,U29185,X83416,AK090575,AW452130,AY008282,AY569456,BC012844,BC014544,BC016809,BC022532,BG397054,BI669189,BP251427,BT019496,CR542039,CR542072,CR597450,CR611378,CR613118,D00015,DA122620,DA297032,DB461478,M13667,M13899 NP_000302,NP_001073590,NP_898902,NP_001073591,NP_001073592,AAC05365,AAD46098,AAC62750,CAB75503,CAI19053,AAO83635,AAO83636,AAR21603,EAX10449,EAX10450,ABD63004,AAB59442,AAB59443,AAB20521,AAB20522,AAB20523,AAB35416,AAB21334,AAB50648,AAB50649,AAB50777,AAC78725,CAA58442,AAG21693,AAS80162,AAH12844,AAH22532,AAV38303,CAG46836,CAG46869,AAA19664,AAA60182,O75942,P04156,Q16409,Q53YK7,Q540C4,Q5QPB4,Q5U0K3,Q6FGN5,Q6FGR8,Q6SES1,Q7KYY8,Q7KYZ4,Q86XR1,ABM82244,ABM85428,BAA00011 Hs.472010,Hs.610285,Hs.707152 GDB:120720 ASCR|CD230|CJD|GSS|MGC26679|PRIP|PrP|PrP27-30|PrP33-35C|PrPc prion protein protein-coding 1318310 PRNPIP prion protein interacting protein 16344560,12477932,11571277,9110174,8619474 79033 NM_024066,AC004254,AL035417,AL390776,CH471059,AF007157,AK026596,AK290567,AU125565,BC001072,BC004456,BG323839,CR590749,CR593365,CR594537,CR596987,CR600391,CR608125,CR613116,CR613479,CR621068,CR621093,CR621816,CR625716 NP_076971,AAC04618,CAI23193,CAI23194,CAI23195,CAI23196,CAI12490,CAI12491,CAI12492,CAI12493,CAI12494,EAX07042,EAX07043,EAX07044,EAX07045,AAC19158,BAF83256,AAH01072,AAH04456,O43414,Q5T2T5,Q5T2T6,Q5T2T8,Q5TG34,Q5TG42,Q5TG43,AAI56813 Hs.132497 GDB:11507532 FLJ22943|MGC2683|PINT1 protein-coding 1353334 PRNT prion protein (testis specific) 16889908,12514748 149830 NM_177549,AL133396,CH471133,AJ427539,AJ427540,AL137296,BC137389,BC137390 NP_808217,EAX10447,CAD20690,CAD20691,AAI37390,AAI37391,Q86SH4 Hs.126516 GDB:11510584 protein-coding 1342561 PRO1 progeria 1 (Hutchinson-Gilford type) 353215 GDB:128585 737321 PROC protein C (inactivator of coagulation factors Va and VIIIa) 1578391,1578392,1580863,1578517,1578514,1578515,1578389,1581278 14718574,18424361,18376272,18247057,18198180,18160601,18089851,17982464,17932312,17890957,17849052,17704111,17677000,17646160,17603240,17569089,17557119,17549291,17343367,17284699,17255099,17254565,17170365,17107352,17054378,17048007,16935856,16887970,16867987,16765424,16607073,16601829,16420659,16418283,16344560,16335952,16246255,16146761,16113841,16113807,16113785,16105054,16095499,15978566,15860736,15841323,15769747,15710622,15705565,15670041,15665002,15634335,15582990,15516929,15505101,2538457,15005336,15248212,12563316,12052963,15486064,15337738,15319291,15308562,15178554,15116250,15114590,14976057,14961149,14675098,14660667,14517747,12960605,12871399,12609838,12588872,12540965,12482406,12477932,12407115,12200374,12195699,12193972,12091346,12091344,12067914,12063259,12029084,11994010,15489334,11761087,11686318,11380450,11123896,11106601,11099506,10681521,10649502,10347086,10026263,9798967,9683579,9395524,9334197,9252393,9003757,8947506,8945631,8829639,8499568,8499565,8446940,8400292,8398832,8324221,8292730,8218861,8128429,8003977,7989361,7974343,7919373,7881411,7878626,7865674,7841324,7841323,7792728,7605880,7548163,6589623,6572939,3511471,3185623,8477066,2991887,2991859,2912888,2602169,2544585,2461936,2437584,2105310,2033065,1939075,1868249,1761551,1694179,1615482,1611081,1593215,1544894,1511989,1511988,1498334,1469096,1433913,1347706,1301959,1301954,16189514 1578391,1578392,1578517,1578514,1578515,1578389,1581278 5624 NM_000312,AB083690,AB083693,AB083695,AB083696,AB083697,AB083698,AB083699,AB083700,AB086849,AB086850,AB086851,AB086852,AC010976,AC068282,AF378903,AY348553,AY348554,AY454079,CH471103,CQ757487,CQ821348,M11228,M12712,S58668,BC034377,CB113383,CR606412,DA642156,K02059,S50739,X02750 NP_000303,BAC21165,BAC21166,BAC21167,BAC21168,BAC21169,BAC21170,BAC21171,BAC21172,BAC53629,BAC53630,BAC53631,BAC54280,AAY15044,AAK56377,AAQ24849,AAQ24850,AAR23427,EAW95320,CAF32600,CAG34344,AAA60166,AAA60165,AAB26335,AAH34377,AAA60164,AAB24150,CAA26528,P04070,Q53S74,Q6SPC0,Q6V7X8,Q6V7X9,Q8IXB4,Q8IXB5,Q8IXB6,Q8IXB7,Q8J002,Q8J003,Q8J004,Q8J005,Q8J006,Q8J007,Q8J008,Q8J009,Q9UC55,ABM81717,ABM84873 Hs.224698 GDB:120317 PROC1 protein c protein-coding 1603267 PROCA1 proline-rich cyclin A1-interacting protein 15159402,12477932,16189514 147011 NM_152465,AC010761,CH471159,AL137531,AY601916,BC029574 NP_689678,EAW51125,EAW51126,AAT09159,AAH29574,Q6PKN3,Q8NCQ7 Hs.207471 MGC39650 protein-coding 1314349 PROCR protein C receptor, endothelial (EPCR) The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. 1580863,1578508 7929370,18480081,18403391,18278202,18160602,18073349,17849044,17823308,17570903,17454790,17439632,17327234,17170365,17155946,17099210,17099142,17054378,17049585,17027065,16444434,16409473,16354200,16354176,16153429,16113830,15978102,15954900,15921688,15710622,15634335,15489334,15304035,15178554,15150078,15116250,15080580,14576048,12911608,12897745,12871285,12831462,12683950,12586611,12563316,12560236,12529763,12514663,12477932,12439143,12413583,12152662,12152660,12052963,12034704,11780052,11776299,11703343,11686350,11552992,11099506,10681599,10681521,10570964,10518938,10397730,10364477,9396465,1051893,16189514 1578508 10544 NM_006404,AB026584,AF106202,AF375468,AL356652,CH471077,BC014451,BG423815,CR456948,CR601108,CR601276,CR601500,L35545,X89079 NP_006395,BAA77249,AAD43967,AAK53045,CAC16283,EAW76223,EAW76224,AAH14451,CAG33229,AAA63647,CAA61450,Q9UNN8,ABM83760,ABM87080 Hs.647450 GDB:435496 CCCA|CCD41|CD201|EPCR|MGC23024|bA42O4.2 protein-coding 1343717 PRODH proline dehydrogenase (oxidase) 1 The protein encoded by this gene is a mitochondrial proline dehydrogenase that catalyzes the first step in proline degradation. Defects in this gene are a cause of hyperprolinemia type 1 and possibly susceptibility to schizophrenia 4 (SCZD4). The gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes DiGeorge syndrome and CATCH22 syndrome. 635270,1599206,1580863 10192398,9305847,18247315,18197084,18163391,17604122,17504246,17412540,17135275,17106420,16874462,16860541,16791139,16619034,16303758,16094254,15914462,15662599,15494707,15489334,15449943,15274030,15146197,14702039,12815738,12525555,12514185,12477932,12217952,11891283,11280728,9385373,7566098 635270,1599206 5625 NM_016335,AC007326,CH471176,AA322439,AB209472,AF010310,AK001359,AK091063,BC036534,BC068260,BC094736,BC118597,BC121809,CN362765,U79754 NP_057419,EAX03073,EAX03074,BAD92709,AAC39529,AAH68260,AAH94736,AAI18598,AAI21810,AAF21464,O43272 Hs.517352 GDB:5215168 FLJ33744|HSPOX2|MGC148078|MGC148079|PIG6|POX|PRODH1|PRODH2|SCZD4|TP53I6 protein-coding 1315565 PRODH2 proline dehydrogenase (oxidase) 2 The protein encoded by this gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme which catalyzes the first step in proline catabolism. The function of this protein has not been determined. 1580863 12477932 58510 NM_021232,AC002398,U95090,BC038853,BC039710,U80018 NP_067055,AAB80768,AAF21465,O00420,Q9UF12,AAI66629 Hs.515366 GDB:11507534 HSPOX1 protein-coding 736057 PROK1 prokineticin 1 Endocrine gland-derived vascular endothelial growth factor (EG-VEGF) induces proliferation, migration, and fenestration in capillary endothelial cells derived from endocrine glands. Its expression is induced by hypoxia and is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta). Its expression is often complementary to the expression of VEGF (MIM 192240), suggesting that these molecules function in a coordinated manner.[supplied by OMIM] 1580863 17683928,17289879,17178891,17167981,16763065,16320832,16263331,16210375,15340161,15292351,15126581,15126578,12975309,12915658,12858543,12759245,12604792,12538479,12477932,11528470,11259612 84432 NM_032414,AL358215,AL390797,CH471122,CS023555,AF333024,AY029225,AY358683,BC025399,BM544315 NP_115790,CAH74102,CAH71489,EAW56449,EAW56450,CAI59103,AAK49918,AAK33111,AAQ89046,AAH25399,P58294,Q5VWD4,Q8TC69,ABM82496,ABM85689 Hs.514793 GDB:11510192 EGVEGF|PK1|PRK1 protein-coding 1350776 PROK2 prokineticin 2 This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 12728244,12604792,11259612,10580115,12466223,17959774,17903308,17054399,16763065,15772293,15548611,15489334,15340161,15126578,14978236,12477932,12024206,11054548 60675 NM_021935,NM_001126128,AC096970,CH471055,CS023558,AF182069,AF333025,AY349131,BC069395,BC096695,BC098110,BC098162 NP_068754,NP_001119600,EAW65506,EAW65507,EAW65508,CAI59104,AAG16893,AAK49919,AAR06657,AAH69395,AAH96695,AAH98110,AAH98162,Q6ISR0,Q9HC23 Hs.528665 GDB:11510194 BV8|KAL4|MIT1|PK2 protein-coding 733659 PROKR1 prokineticin receptor 1 1580863 16763065,15815621,15489334,15126578,14702039,12477932,12427552,12054613,11886876,10760605 10887 NM_138964,AC105054,CH471053,AB084080,AF506287,AK122915,AY089976,BC100960,EF577399 NP_620414,AAY24114,EAW99869,BAC24021,AAM48127,AAM11892,AAI00961,ABQ52419,Q8TCW9 Hs.258941,Hs.683430 GDB:9958448 GPR73|GPR73a|PKR1|ZAQ g protein-coupled receptor i5e protein-coding 1353227 PROKR2 prokineticin receptor 2 Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. 1580863 17054399,16763065,15489334,15126578,12477932,12427552,11886876,11780052 128674 NM_144773,AL121755,CH471133,AB084081,AF506288,AK289995,BC104959,BC104961,EF577398 NP_658986,CAI22379,EAX10422,BAC24022,AAM48128,BAF82684,AAI04960,AAI04962,ABQ52418,Q8NFJ6 Hs.375029 GDB:11506103 GPR73L1|GPR73b|GPRg2|KAL3|PKR2|dJ680N4.3 protein-coding 1351065 PROL1 proline rich, lacrimal 1 This gene encodes a member of the proline-rich protein family. The protein may provide a protective function at the eye surface. 17101991,15851553,12477932,8670737 58503 NM_021225,AC106884,CH471057,CS162528,CS174966,BC092438,CD722615,CK430664,S83198 NP_067048,EAX05620,CAJ32190,CAJ34589,AAB46823,Q99935,AAI41466,AAI48721 Hs.661425 GDB:7087507 BPLP|PRL1 protein-coding 1345263 PROM1 prominin 1 The CD133 gene codes for a pentaspan transmembrane glycoprotein. The CD133 antigen appears to belong to a new molecular family of 5-TM proteins, as the characterization of the CD133 antigen and prominin in the mouse were the first descriptions of a 5-TM glycoprotein structure. This "family" includes members from several different species (which may be homologs) including human, mouse, rat, fly, and worm. The 5-TM structure includes an extracellular N-terminus, two short intracellular loops, two large extracellular loops and an intracellular C-terminus CD133 was initially shown to be expressed on primitive hematopoietic stem and progenitor cells and retinoblastoma. CD133 has since been shown to be expressed on hemangioblasts, and neural stem cells as well as on developing epithelium. Expression patterns for CD133 generally mimic those of the murine prominin molecule, although CD133 antigen has not yet been demonstrated on adult epithelial tissue. The CD133 positive fraction of human bone marrow, cord blood and peripheral blood have been shown to efficiently engraft in xenotransplantation models, and have been shown to contain the majority of the granulocyte/macrophage precursors, NOD/SCID repopulating cells and CD34 + dendritic cell precursors. Phenotypically, CD133 positive cells in blood and marrow are CD34 bright, with CD34 dim CD71 bright cells being negative for CD133 expression. Many leukemias express CD133 as well as CD34 , but some investigators have noted leukemic blasts which are CD133+ and CD34 negative. No natural ligand has yet been demonstrated for the CD133 molecule, and its function in hematopoietic tissue is unknown. However, Maw and colleagues have described a mutation in the CD133 gene, which is responsible for retinal degeneration in an Indian pedigree. 1580863 9389720,18402255,18192867,18172261,18096722,17999603,17977646,17912948,17883595,17605048,17594720,17487431,17388661,17253947,17205516,17122772,17081983,17077937,17077324,16914572,16439688,16381901,16303743,15558321,15489336,15254585,15231568,15226377,15115691,14702039,14630820,12799292,12477932,12042327,11467842,11076863,10587575,10075457,9389721,9373149,8125298 8842 NM_006017,AC005598,AC108063,CH471069,AF027208,AF117225,AF507034,AK027420,AK027422,AK075411,AK226033,AY449689,AY449690,AY449691,AY449692,AY449693,BC012089 NP_006008,EAW92750,EAW92751,EAW92752,AAB92514,AAO15307,AAM33415,AAS19705,AAS19706,AAS19707,AAS19708,AAS19709,AAH12089,O43490,Q6SV49,Q6SV50,Q6SV51,Q6SV52,Q6SV53,Q96EN6,CAL38231,ABM86378,ABW03789 Hs.614734 AC133|CD133|MSTP061|PROML1 protein-coding 1353767 PROM2 prominin 2 633875,1580863 17145811,14702039,12975309,12514187,12477932 633875 150696 AC009238,CH471219,AF245303,AF245304,NM_144707,AK091175,AK091408,AK290366,AY358377,BC025736,BC113877,BC114525 NP_653308,AAY14751,EAX10718,EAX10719,EAX10720,EAX10721,EAX10722,AAM10541,AAM10542,BAC03599,BAC03657,BAF83055,AAQ88743,AAI13878,AAI14526,Q8N271 Hs.469313 MGC138714|PROM-2 protein-coding 1344010 PROP1 PROP paired-like homeobox 1 PROP1 has both DNA-binding and transcriptional activation ability. Its expression leads to ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes, and caudomedial thyrotropes. Inactivating mutations in PROP1 result in deficiencies of luteinizing hormone (LH; MIM 152780), follicle-stimulating hormone (FSH; MIM 136530), growth hormone (GH; MIM 139250), prolactin (PRL; MIM 176760), and thyroid-stimulating hormone (TSH; MIM 188540). See combined pituitary hormone deficiency (CPHD; MIM 262600).[supplied by OMIM] 704351,1601504,1580863,1601503 9462743,17526949,17526936,16703408,15963055,15941866,15531542,15489334,15472232,15302300,15126542,14714741,14646405,12717343,12519826,12477932,12464226,12006708,11822586,11549703,11283314,11134108,10946881,10323394,10199788,10084575,9920061,9824293,9768691,9745452,9685346,9661653 704351,1601504,1601503 5626 NM_006261,AC136940,AF041141,AF076214,CH471390,AF076215,BC069076 NP_006252,AAC27900,AAC77453,EAW50395,AAC77454,AAH69076,O75360 Hs.158301 GDB:9834318 protein-coding 1342781 PROS1 protein S (alpha) 1578677,1599209,1580863,1578508 8146182,9657428,14718574,18435454,18278202,18250462,18067603,17958742,17938802,17890957,17849042,17597997,17393035,17157360,16961608,16961607,16935856,16885060,16868938,16840717,16720551,16672217,16607073,16493484,16488980,16461766,16363235,16335952,16229836,16105054,16100035,15978566,15893367,15748239,15670064,15489334,15456488,15292065,15175796,15096498,14652633,14515184,12907438,12871408,12492479,12490286,12477932,12447359,12413608,12193972,12193728,11927129,11858485,11848449,11843280,11776305,11686322,11467946,10744423,10593904,10447256,9252393,8641360,8616098,8428962,8422460,8298131,7620160,6454142,6239102,3467362,2974696,2961379,2952034,2944113,2940598,2820795,2526663,2461936,2148653,2148111,2148110,2143091,1833851,1615482,1534488,1531628,214811,16189514 1578677,1599209,1578508 5627 NM_000313,AB083386,AB083387,AB083389,AB083390,AB083391,AB083392,AB083393,AB083394,AB083395,AB083396,AB083687,AB083688,AB084900,AB084901,AB084902,AB084903,AB084904,AB087994,AC117474,AC144562,AY308744,AY605182,CH471052,DQ453481,DQ453483,DQ453484,M36564,M57853,S81775,S81777,AK292994,BC015801,M15036,X12892,Y00692,M14338 NP_000304,BAC54134,BAC54135,BAC54137,BAC54138,BAC54139,BAC54140,BAC54141,BAC54142,BAC54143,BAC54144,BAC21163,BAC21164,BAC54253,BAC54254,BAC54255,BAC54256,BAC54257,BAC55115,AAP45054,AAT37717,EAW79903,EAW79904,EAW79905,ABD96173,ABD96174,ABD96175,AAA60180,AAA60357,AAD14374,AAD14375,BAF85683,AAH15801,AAA36479,CAA31383,CAA68687,CAA68688,P07225,Q06F35,Q16441,Q16519,Q1W147,Q1W148,Q6J1N0,Q7KYZ1,Q86Z10,Q8IU87,Q8IVH1,Q8IXC3,Q8IXC4,Q8IXC5,Q8IXC6,Q8IXC8,Q8IXC9,Q8IXD0,Q8IXD1,Q8IXD2,Q8IXD4,Q8IXD5,Q8J010,Q8J011,Q9NSD0,AAA60181,ABM83315,ABM86528,Q1W146 Hs.64016 GDB:120721 PROS|PS 26|PS21|PS22|PS23|PS24|PS25|PSA protein-coding 1319041 PROSC proline synthetase co-transcribed homolog (bacterial) 1580863 10496079,11256614,15489334,14702039,12477932,11230166,8889548 11212 NM_007198,AB018566,AC138356,CH471080,AI355650,AK021923,AK291135,AW028116,BC012334,BM984988,CR533532,AL136616 NP_009129,BAA36842,EAW63360,EAW63361,EAW63362,EAW63363,EAW63364,BAF83824,AAH12334,CAG38563,O94903,CAB66551 Hs.304792,Hs.608177 GDB:9957415 FLJ11861 protein-coding 1353474 PROSP protein S pseudogene (beta) 2148112,2148111 5628 NG_001179,AC139337,M36565 GDB:120757 PROS2 pseudo 1315763 PROX1 prospero homeobox 1 1580863 10080188,8812486,18400094,17761831,17533110,17415710,17217617,17069925,17062673,16525637,16488887,16308102,15232737,15205472,15143342,12874782,12692551,12477932,12412020,12198161,12060670,11943779,11850194,11789987,11719431 5629 AC011700,AL606537,CH471100,BC024201,U44060,NM_002763 NP_002754,CAI15309,EAW93359,EAW93360,AAH24201,AAC50656,Q92786,ABZ92390 Hs.585369 GDB:5896858 protein-coding 1606668 PROX2 prospero homeobox 2 14702039,12477932 283571 Q3B8N5,Q8N9Q3,Q9Y6T0 XM_001132017,XM_001128732,NM_001080408,AC006530,AK094068,BC105720,BC105721,BC105927 XP_001132017,XP_001128732,NP_001073877,AAD30180,BAC04278,AAI05721,AAI05928,Q3B8N5,Q8N9Q3,Q9Y6T0 Hs.675293 FLJ36749 protein-coding 1318570 PROZ protein Z, vitamin K-dependent plasma glycoprotein 1358564,1580691,1580692,1580693,1580720,1580863 18378283,18246466,18180611,18177644,18000618,17958743,17701666,17403098,17048007,16807661,16191090,16155788,16120837,15879328,15841316,15748239,15626740,15489334,15314579,14671240,14652653,14507116,12970515,12623836,12490280,12477932,12297123,11858503,11289354,9578570,6707212,2511201,2403355,2244898,2129367,2040612,1872862,17456189 1358564,1580691,1580692,1580693,1580720 8858 NM_003891,AB033749,AF440358,AL137002,CH471085,BC074906,BC074907,M55670,M55671,M59303 NP_003882,BAA85763,BAA85764,AAL27631,CAI41388,CAI41389,EAX09186,EAX09187,EAX09188,AAH74906,AAH74907,AAA36500,AAA36501,AAA36499,P22891,Q5JVF6 Hs.1011 GDB:9957440 PZ protein-coding 1353539 PRP19P PRP19 homolog (S. cerevisiae) pseudogene 399695 731692 PRPF18 PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. 1580863 9000057,16344560,15489334,12477932,11823439,8436300 8559 NM_003675,AL157392,CH471072,AF087997,AI580379,AU142253,BC000794,BC002572,CR606297,U51990 NP_003666,CAI13123,CAI13125,CAI13126,EAW86280,EAW86281,EAW86282,EAW86283,AAH00794,AAB41490,Q5T9P7,Q5T9P8,Q5T9P9,Q99633 Hs.161181 GDB:11507536 FLJ10210|PRP18|hPrp18 potassium channel regulatory factor protein-coding 1353674 PRPF19 PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) In S. cerevisiae, Pso4 has pleiotropic functions in DNA recombination and in error-prone nonhomologous end-joining DNA repair.[supplied by OMIM] 737633,1302471,1580863 17353931,18263876,17283042,17276391,16388800,16332694,16223718,16189514,15660529,15635413,15489334,15175653,12960389,12477932,12429849,11991638,11790298,11082287,10404385,15324660 737633,1302471 27339 NM_014502,AP000777,AP003721,CH471076,AJ131186,BC008719,BC018665,BC018698,CR617688 NP_055317,EAW73904,EAW73905,CAB51857,AAH08719,AAH18665,AAH18698,Q9UMS4,ABM83929,ABM87248 Hs.502705 NMP200|PRP19|PSO4|SNEV|UBOX4|hPSO4 prp19/pso4 homolog (s. cerevisiae) protein-coding 1321525 PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. PRPF3 is 1 of several proteins that associate with U4 and U6 snRNPs.[supplied by OMIM] 1599535 9328476,16189514,17353931,18395097,18211889,18026141,17932117,17517693,17081983,16565220,15635413,15541726,15489334,15452143,15085354,12875835,12714658,12477932,12456665,12374753,11971898,11823439,11773002,10713041,9600251,9521884,9404889,9373149,8842740,8125298 1599535 9129 NM_004698,AL611942,CH471121,AF001947,AF016370,AK222825,BC000184,BC001954,CR597102,CR597989 NP_004689,CAH70312,EAW53556,AAC09069,AAC51926,BAD96545,AAH00184,AAH01954,O43395,Q53GV6,Q5VT54,ABM83779,ABM87099 Hs.11776 HPRP3|HPRP3P|PRP3|Prp3p|RP18 prp3 pre-mrna processing factor 3 homolog (yeast) protein-coding 1314103 PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) PRPF31 is a component of the spliceosome complex. It is recruited to introns following the attachment of U4 and U6 (MIM 180692) RNAs and the 15.5K protein (NHP2L1; MIM 601304). The addition of PRPF31 is crucial for the transition of the spliceosomal complex to the activated state (Liu et al., 2007) [PubMed 17412961].[supplied by OMIM] 1580863 11867543,18317597,18177735,17895420,17412961,17325180,17295140,17003455,16917484,16636657,16427773,16381901,16139010,15924690,15659613,15489336,15489334,15257298,15162096,15057824,14702039,14507862,12923864,12747765,12714658,12477932,12444105,11545739,11256614,11230166,11076863,8808602,8004108,1154573,14499622 26121 NM_015629,AC012314,CH471135,DQ374434,AF308303,AK098547,AL050369,AY040822,BC117389 NP_056444,EAW72190,EAW72191,ABD37635,AAG48270,BAC05329,CAB43677,AAK77986,AAI17390,Q0JUR7,Q2EKB9,Q8WWY3,CAL37744 Hs.515598 GDB:333911 DKFZp566J153|NY-BR-99|PRP31|RP11 prp31 pre-mrna processing factor 31 homolog (yeast) protein-coding 1602851 PRPF38A PRP38 pre-mRNA processing factor 38 (yeast) domain containing A 16344560,15302935,14702039,12477932 84950 NM_032864,AL138849,AL513218,CH471059,AK027842,AK092038,BC000777,BC063655,BC105004,BC105006,BE465896,BF223635,BU508261,CR607179,DA055001 NP_116253,CAI12289,EAX06782,BAB55405,BAC03796,AAH00777,AAH63655,AAI05005,AAI05007,Q8NAV1 Hs.5301 FLJ14936|MGC3320|RP5-965L7.1 protein-coding 1605670 PRPF38B PRP38 pre-mRNA processing factor 38 (yeast) domain containing B 16083285,15342556,15324660,15302935,14702039,12601173,12477932 55119 NM_018061,AL160171,AL591719,CH471122,AK001192,AL833950,AY211915,BC007757,BC009453,BC016296,BC024275,BC034581,BC040127,BC053838,BC107801,BC130346,BC132963,BP198449,CR600202,CR613459 NP_060531,CAI12932,CAI12933,CAI12934,EAW56327,EAW56328,BAA91546,CAH10702,AAO65168,AAH07757,AAH16296,AAH24275,AAH34581,AAH40127,AAH53838,AAI07802,AAI30347,AAI32964,Q5VTL8,Q69YH0 Hs.342307 FLJ10330|MGC163218|MGC41809|RP11-293A10.1 protein-coding 1318626 PRPF39 PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) 1580863 16344560,15489334,14702039,12477932 55015 NM_017922,AL121809,CH471078,AA290697,AI476677,AK000673,AK001990,AK127382,AL599626,BC020655,BC028683,BC051886,BC125126,BC125127,DB339898,DC306976 NP_060392,EAW65786,EAW65787,EAW65788,BAA91318,BAA92024,BAC86951,AAH20655,AAH51886,AAI25127,AAI25128,Q05CV8,Q08AL2,Q6ZSJ7,Q86UA1,Q9NWR1 Hs.274337 FLJ11128|FLJ20666|FLJ45460|MGC149842|MGC149843 prp39 pre-mrna processing factor 39 homolog (yeast) protein-coding 1322687 PRPF4 PRP4 pre-mRNA processing factor 4 homolog (yeast) The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. PRPF4 is 1 of several proteins that associate with U4 and U6 snRNPs.[supplied by OMIM] 1580863 8125298,15452143,16189514,11418604,9328476,12226669,17998396,17513757,16723661,15761153,15635413,15489334,12907720,12875835,12477932,11971898,9521884,9404889,9373149,9257651,9000057 9128 NM_004697,AF001687,AL449305,CH471090,AB209797,AF016369,AK225056,AY572489,BC001588,BC007424,CR457105,CR590713,CR603092,U82756 NP_004688,AAB87640,CAI10968,CAI10969,EAW87362,EAW87363,BAD93034,AAC51925,AAS78572,AAH01588,AAH07424,CAG33386,AAC02261,O43172,Q59EL4,Q5T1M7,Q5T1M8,Q6IAP9,ABW03782,ABW03474 Hs.374973 GDB:9955080 HPRP4|HPRP4P|PRP4|Prp4p protein-coding 1322844 PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 9700202,15383276,17353931,17081983,17065151,16391387,15815621,15489334,15456888,15302935,14702039,12964049,12477932,12460579,12381297,11042152,10508479,9724750,10744724,15324660,14603323,8605874,16189514,9171351,11741599,14697212 55660 XM_371575,XM_938514,NM_017892,AC012443,AC079344,AF049523,AF049524,AF049528,AF151059,AF155096,AK000592,AK021621,AK024810,BC000273,BC011788,BC027178,BC029414,BC073138,BU753487,EG328171,U70667 XP_371575,XP_943607,NP_060362,AAX88960,AAC27501,AAC27502,AAC27506,AAF36145,AAD42862,BAA91277,BAB15016,AAH11788,AAH27178,AAH29414,AAB93495,O75400,Q05C41,Q4ZG51 Hs.643580 GDB:11500510 FBP-11|FBP11|FLAF1|FLJ20585|FNBP3|HIP10|HYPA|NY-REN-6|fnbp3 formin binding protein 3 protein-coding 1604375 PRPF40B PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 12477932,9700202 25766 NM_012272,NM_001031698,AC020612,CH471111,AF049525,AK027117,AK123353,AL137459,AL834216,BC031917,BC050398,BC067364 NP_036404,NP_001026868,EAW58084,EAW58085,AAC27503,BAB15662,BAC85591,CAB70747,CAD38898,AAH50398,AAH67364,Q6NWY9 Hs.706827 HYPC protein-coding 1317177 PRPF4B PRP4 pre-mRNA processing factor 4 homolog B (yeast) Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). 1580863 9102632,17081983,16964243,16565220,15951569,15592455,15302935,15146197,12477932,12077342,11991638,11418604,10799319,9628581,8274451,17353931,15452250,16169070,17513757 8899 NM_003913,AL033383,AL138831,CH471087,AB011108,AF283465,AK291244,AY029347,BC009844,BC034969,CN314758,CN314761,U48736,Z25435 Q15456,Q5D0F6,Q5JYK0,Q5TAY8,Q8IVC3,NP_003904,CAI42121,CAI20480,EAW55146,EAW55147,EAW55148,EAW55149,EAW55150,EAW55151,BAA25462,AAM19101,BAF83933,AAK38155,AAH09844,AAH34969,AAB03268,CAA80922,Q13523 Hs.159014 GDB:9957582 KIAA0536|PR4H|PRP4|PRP4H|PRP4K|dJ1013A10.1 protein-coding 1316097 PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. 10788320,16414017,12620389,16341228,17353931,15840814,15489334,15342556,15161931,14702039,12943705,12477932,12039962,11991638,11780052,10848612,10561546,9373149,8125298,15146077 24148 CQ834642,AB019219,AF026031,AF221842,AK001554,AK225993,AL137320,BC001666,BI562505,BP366197,NM_012469,AL118506,AL355803,AL356790,CH471077 EAW75174,EAW75175,EAW75176,EAW75177,EAW75178,EAW75179,CAH05536,BAA37140,AAD01798,AAF66128,CAB70695,AAH01666,O94906,NP_036601,CAI21906,CAC16610 Hs.31334 GDB:11504941 ANT-1|C20orf14|TOM|U5-102K|hPrp6 chromosome 20 open reading frame 14 protein-coding 1313510 PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. 1599210 9774689,17353931,12226669,17317632,17061239,16344560,15840809,15786732,15489334,12840015,12714658,12601059,12477932,11971955,11910553,11468273,11006293,10983979,10828595,10809668,10411133,10024169,9373149,9303319,8702566,8608445,8571961,8125298,7951236,7573060,7489518,2532307,2527369,2479028,2139226,15146077,10788320 1599210 10594 NM_006445,AC130343,CH471108,AB007510,AF092565,AK058034,AK126169,AK222905,AY486134,AY486135,BC000579,BC034545,BC064370,BX649099,CD698473,CR605208,CR624543,DB081408 NP_006436,EAW90588,EAW90589,EAW90590,EAW90591,EAW90592,EAW90593,EAW90594,BAA22563,AAC61776,BAC86468,BAD96625,AAS64747,AAS64748,AAH00579,AAH64370,Q53GM6,Q6JH02,Q6JH03,Q6P2Q9,Q6ZTW1,Q9BW78 Hs.181368 GDB:392647 HPRP8|PRP8|PRPC8|RP13 prp8 pre-mrna processing factor 8 homolog (yeast) protein-coding 733911 PRPH peripherin This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. 1580863 1378416,18287500,17851265,17569669,16787413,16189514,15489334,15322088,14702039,14675609,12477932,12403814,12358815,12223549,11835375,10728817,9453548,9414188,9085149,8381395,7976309,7806235,7622044,1986862,10681511 5630 AC125611,CH471111,CQ772262,L14565,AA460760,AK125587,BC032703,BF448012,CR591176,CR596536,CR598826,CR605251,CR605475,CR609048,CR609614,CR610243,CR615736,CR620795,CR624218,NM_006262,CR624274 NP_006253,EAW58060,EAW58061,CAF33862,AAA60190,AAH32703,P41219,ABM84284,ABM87676 Hs.37044 GDB:131468 NEF4|PRPH1 peripherin 1 protein-coding 735709 PRPH2 peripherin 2 (retinal degeneration, slow) The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. 1580863 1749427,18050133,17653047,17504850,17362467,17698758,17671712,17249552,17148040,17031298,16885924,16832026,16767206,16340530,16019073,15591062,15370544,14557183,14557182,12902384,12882809,12724643,12608515,12566026,12477932,12019563,11934323,11739647,11641407,11485765,10681511,10627133,10426285,9885962,9443872,9338584,8956033,8485576,8485574,8449524,8020945,8019570,7862413,7519821,7493155,2918924,1992463,1944554,1684223,1679750,1539599,1427912 5961 NM_000322,AL049843,CH471081,S73627,U07149,BC074720,M62958,M73531 NP_000313,CAB75420,EAX04098,AAB31191,AAA16958,AAH74720,AAA60260,P23942,Q16228 Hs.654489 GDB:118863 AOFMD|AVMD|PRPH|RDS|RP7|TSPAN22|rd2 peripherin 2 protein-coding 736625 PRPS1 phosphoribosyl pyrophosphate synthetase 1 Phosphoribosylpyrophosphate synthetase (PRPS; EC 2.7.6.1) catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis (Roessler et al., 1990 [PubMed 2155397]). Three PRPS genes have been identified: the widely expressed PRPS1 and PRPS2 (MIM 311860) genes, which map to chromosome Xq22-q24 and Xp22, respectively, and PRPS3 (PRPS1L1; MIM 611566), which maps to chromosome 7 and appears to be transcribed only in testis (Becker, 2001).[supplied by OMIM] 1599725,1300048 4328836,8253776,17701900,17701896,16939420,16682768,16236267,16189514,15955956,15943588,15489334,12477932,10066814,9373149,9366267,8882866,8702702,8125298,7593598,2155397,1962753,1650777,1314091 1599725 5631 AL137787,NM_002764,AL772400,CH471120,D28133,AK223169,BC001605,CR606516,CR622039,D00860,X15331 P60891,Q15244,Q53FW2,Q5JPM8,Q5JV75,ABM86759,ABW03813,NP_002755,CAI42172,CAI42173,CAI42174,CAI41097,CAI41098,CAI41099,EAX02709,EAX02710,EAX02711,BAA05675,BAD96889,AAH01605,BAA00733,CAA33386 Hs.56 GDB:120318 ARTS|CMTX5|KIAA0967|PPRibP|PRS I protein-coding 1314887 PRPS1L1 phosphoribosyl pyrophosphate synthetase 1-like 1 This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. 2168892,12477932,1314091 221823 NM_175886,AC080080,CH236948,BC005309,BC062797,M57423 NP_787082,AAH62797,AAB59463,P21108,Q6P5P6 Hs.169284 GDB:120722 PRPS1|PRPS3|PRPSL|PRS-III protein-coding 1342492 PRPS1L2 phosphoribosyl pyrophosphate synthetase 1-like 2 1962753,2536962 5633 GDB:120319 737326 PRPS2 phosphoribosyl pyrophosphate synthetase 2 1580863,1300048 2560337,2537655,2536962,1962753,1602151,1314091,2538352,15489334,12477932,9366267,7572345 5634 NM_001039091,NM_002765,AC005859,CH471074,D28134,BC030019,BC040483,BC110875,BC119662,BC119663,CR988262,Y00971 NP_001034180,NP_002756,EAW98805,EAW98806,BAA05676,AAH30019,AAH40483,AAI10876,AAI19663,AAI19664,CAA68785,P11908 Hs.654581 GDB:120320 PRS II|PRSII protein-coding 733778 PRPSAP1 phosphoribosyl pyrophosphate synthetase-associated protein 1 1580863 8132556,17353931,8611620,16189514,15489334,12477932,9366267,8660991,7572345 5635 NM_002766,AC090699,CH471099,AK131332,BC009012,CR607259,CR609147,D61391 NP_002757,EAW89386,EAW89387,AAH09012,BAA09612,Q14558 Hs.77498 GDB:567139 PAP39 protein-coding 732905 PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2 The enzyme phosphoribosylpyrophosphate synthetase (PRS) catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. 1580863 9545573,17081983,15489334,12477932,9806849 5636 AC090286,AC107982,CH471276,NM_002767,AB007851,AL535304,BC101670,BC101672,BC106050,BX648850,CR457082 NP_002758,EAW50432,EAW50433,EAW50434,EAW50435,EAW50436,EAW50437,EAW50438,BAA25435,AAI01671,AAI01673,AAI06051,CAG33363,O60256 Hs.632236 GDB:9837478 MGC117304|MGC126719|MGC126721|PAP41 protein-coding 1353000 PRR1 proline rich 1 (prostatic) 1300407 1300407 5637 GDB:125272 1601861 PRR11 proline rich 11 17672918,17081983,15489334,14702039,12477932,11799066,9373149,8125298 55771 NM_018304,AC099850,CH471109,AK000296,AK001891,AK225377,AK225380,AL711011,BC008669,CR608470,CR625874 NP_060774,EAW94416,EAW94417,EAW94418,BAA91064,BAA91964,AAH08669,Q96HE9 Hs.631750 FLJ11029 protein-coding 1320487 PRR12 proline rich 12 17081983,15489334,12477932,10737800,10574462,8889548 57479 NM_020719,AC010619,AC011495,AB033031,BC034003,BF805116,BF933932,BM684867,BM723432,CR593436 NP_065770,BAA86519,AAH34003,Q9ULL5 Hs.590971 KIAA1205 protein-coding 1604010 PRR13 proline rich 13 16847352,16189514,15489334,15146197,12477932,11230166,11042152 54458 AF217517,AK074398,BC001464,BC004512,BC014257,BC016064,BC021019,BC062322,BC066943,BC071979,BK005847,BX640962,CN392914,CR533459,CR592789,CR593035,CR601035,CR601405,CR603166,CR608819,CR619133,CR626600,CR626698,CH471054,NM_018457,NM_001005354,AC068889,AL122042 EAW96702,EAW96703,EAW96704,EAW96705,AAF67628,AAH14257,AAH16064,AAH66943,DAA05782,CAE45980,CAG38490,Q0V8U0,Q9NZ81,NP_060927,NP_001005354 Hs.426359 DKFZp564J157|FLJ23818|TXR1 protein-coding 1604599 PRR14 proline rich 14 16189514,12477932 78994 AC093249,CH471192,CQ783670,AK074783,AK125716,NM_024031,BC000119,BC010232,BC011573,BC021934,BC050677,CR602017,CR611316,CR624418,CR936781 NP_076936,EAW52221,EAW52222,EAW52223,EAW52224,EAW52225,EAW52226,EAW52227,CAF86803,BAC11207,AAH00119,AAH10232,AAH21934,AAH50677,Q96D88,Q9BWN1,ABM83770,ABM87089 Hs.293629 DKFZp781A13198|MGC3121 protein-coding 1603877 PRR15 proline rich 15 15489334,12690205,12477932 222171 NM_175887,AC007255,CH236948,CH471073,BC018144,BC029131,CR604389,CR608739,CR610203,CR619478 NP_787083,EAL24204,EAW93920,AAH29131,Q8IV56 Hs.91109 protein-coding 1602486 PRR16 proline rich 16 15971941,12477932 51334 NM_016644,AC093301,AC104110,AC113418,AC144990,AF242769,BC038838,BC092474 NP_057728,AAF65446,AAH38838,AAH92474,Q569H4 Hs.157461 DSC54|MGC104614 protein-coding 1603346 PRR17 proline rich 17 14702039 284739 NM_207349,AL355803,AK130777,AL157500,BC033342 NP_997232,BAC85427,Q6ZNR8 Hs.97840 DKFZp434G015|FLJ27267 protein-coding 1601804 PRR18 proline rich region 18 12477932 285800 NM_175922,AL121956,CH471051,BC034775 NP_787118,EAW47536,AAH34775,Q8N4B5 Hs.119062 MGC35308 hypothetical protein mgc35308 protein-coding 1604489 PRR19 proline rich 19 12477932 284338 NM_199285,AC006486,CH471126,AI208291,AK124116,AK291528,AW451766,BC063021,BM762502 NP_954979,EAW57127,BAF84217,AAH63021,A6NJB7 Hs.585901 MGC70924 protein-coding 1343981 PRR3 proline rich 3 1580863 16344560,14574404,12477932,8889548 80742 NM_025263,NM_001077497,AB088095,AB103601,AB202092,AL662800,AL662825,BA000025,BX000357,BX248518,BX927220,CH471081,CR388372,CR847863,AK074531,AK131382,BC126455,BC126457,BG483577,BU729453,CR594749,CR610145,CR626352,DA636006,U63336 NP_079539,NP_001070965,BAC54926,BAF31261,BAE78610,CAI18153,CAI18155,CAI17833,CAI17834,BAB63326,CAI18559,CAI18560,CAM26013,CAM26014,CAQ09054,CAQ09055,EAX03297,EAX03298,CAQ07869,CAQ07870,CAQ10055,CAQ10056,BAD18533,AAI26456,AAI26458,AAB40147,P79522,Q5STN6,Q6ZN42,Q96QB9 Hs.83147,Hs.118354,Hs.651434 CAT56|MGC161733|MGC161735 protein-coding 1346469 PRR4 proline rich 4 (lacrimal) Lacrimal proline rich protein is a member of the proline-rich protein family which lacks a conserved repetitive domain. It may have a role in protective functions in the eye. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. 1580863 7544782,16344560,15526346,15489334,15146197,12665801,12477932 11272 NM_001098538,NM_007244,AC006518,AC018630,AC134349,CH471094,AF530472,AK292934,AK292991,BC058035,BX537839,CN411028,DB229285,DB486049,S79048 NP_001092008,NP_009175,EAW96213,AAM94338,BAF85623,BAF85680,AAH58035,AAB35174,Q16378 Hs.408153 DKFZp779L1763|LPRP|PROL4 protein-coding 1604351 PRR5 proline rich 5 (renal) This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. Rare read-through transcripts, containing exons from the ARHGAP8 gene which is located immediately downstream, led to the original description of PRR5 and ARHGAP8 as a single gene. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. 10591208,17599906,17461779,15718101,15498874,14702039,12529303,12477932 55615 NM_001017528,NM_001017529,NM_015366,NM_001017530,NM_181333,CH471138,Z93244,Z98743,AF177331,AK000192,AK055848,AK091884,AK291564,BC016921,BK005635,BK005636,BK005637,BK005638,BK005639,CR594267,CR597708,CR598211,CR599270,CR604399,CR605746,CR611486,CR612790,CR613509,CR618913 NP_001017528,NP_001017529,NP_056181,NP_001017530,NP_851850,EAW73353,EAW73354,EAW73357,CAQ06710,CAQ06711,CAQ06714,CAQ06717,CAQ06718,CAQ06719,CAQ06720,CAQ06721,CAQ09256,CAQ09257,CAQ09260,CAQ09261,CAQ09262,CAQ09263,CAQ09264,AAG17975,BAA90999,BAF84253,AAH16921,DAA05654,DAA05655,DAA05656,DAA05657,DAA05658,P85299 Hs.102336 ARHGAP8|FLJ20185|PP610|PROTOR1 protein-coding 1351678 PRR6 proline rich 6 737633,1580863 15489334,12477932,12196509,11714725,8973570,10439036 737633 201161 NM_181716,AC005971,CH471222,AF514992,AY382899,BC052604,BC137486,BC137487,BQ052702,BU618545 NP_859067,EAX04499,EAX04500,AAM76703,AAR24368,AAH52604,AAI37487,AAI37488,Q7Z7K6 Hs.433422 3110013H01Rik|p30 protein-coding 1345236 PRR7 proline rich 7 (synaptic) 737633 15629447,12477932 737633 80758 NM_030567,AC145098,CH471195,CS123545,BC004261,BC021240,BC024233,BC033649,CR611394,CR624103 NP_085044,EAW84994,EAW84995,EAW84996,CAJ18109,AAH04261,AAH21240,AAH24233,AAH33649,Q8TB68 Hs.534492 MGC10772 protein-coding 1603285 PRR8 proline rich 8 12853948,12690205,12477932 92454 Q96EV2,Q9NSV0,Q75LN9,Q75ML5 AC078834,AC092460,CH236954,CH471149,AL137724,BC011923,NM_053043,AC009403 AAS01989,AAS07551,EAL23911,EAX04539,CAB70894,AAH11923,Q75LN9,Q75ML5,Q96EV2,Q9NSV0,NP_444271,AAS02026 Hs.585001 MGC20460 protein-coding 1601934 PRRC1 proline-rich coiled-coil 1 15541471,14702039,12477932 133619 AJ427339,AJ441110,AJ496322,AJ515158,AJ515428,AJ515429,AK057437,AK090486,AL831963,AL832056,AL832600,BC017066,CR625093,NM_130809,AC010424,CH471062 EAW62405,CAD22113,CAD29585,CAD42881,CAD56470,CAD56438,CAD56439,BAB71487,BAC03467,CAD38605,CAH10384,AAH17066,Q96M27,NP_570721,EAW62402,EAW62403,EAW62404 Hs.483259 FLJ32875 protein-coding 1350141 PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 1580863 9256434,15772651,15489334,12477932 5638 NM_000950,AL356858,CH471141,AF009242,BC012608,BC030786,BC041591,BC060833 NP_000941,CAI40412,EAW59457,EAW59458,AAB67070,AAH30786,AAH60833,O14668,Q8NEK6 Hs.190341 GDB:9120561 PRGP1 protein-coding 1313475 PRRG2 proline rich Gla (G-carboxyglutamic acid) 2 1580863 9256434,17502622,12477932,11171957,11042109 5639 NM_000951,AC010619,CH471177,AF009243,BC026032,CR456846 NP_000942,EAW52504,AAB67071,AAH26032,CAG33127,O14669,Q8TAS3 Hs.35101 GDB:9120562 PRGP2 protein-coding 1343058 PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 1580863 11171957,16303743,14702039 79057 CQ782534,AF326350,AK074574,BC128256,BC128409,NM_024082,AF274854,CH471169 EAW99407,CAF85816,AAK00955,BAC11069,AAI28257,AAI28410,Q9BZD7,NP_076987 Hs.592236 MGC149510|MGC156177|PRGP3|TMG3 protein-coding 1346309 PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 737633,1580863 11171957,15489334,12477932 737633 79056 NM_024081,AL035400,CH471064,AF326351,BC010052,BC063393 NP_076986,EAW68215,AAK00956,AAH10052,AAH63393,Q9BZD6,ABM83810,ABM87132 Hs.471695 PRGP4|TMG4 protein-coding 1345386 PRRT1 proline-rich transmembrane protein 1 15489334,14702039,14656967,12477932 80863 NM_030651,AL662828,AL662884,AK123424,BC013201,BC063046,AL845464,BX284686,BX927239,CH471081,CR753803,CR812478,CR933878,U89336,AF085841,AK054885 NP_085154,CAI17421,CAI17422,BAB70821,AAH13201,AAH63046,Q99946,CAI18339,CAI18341,CAI41794,CAI41796,CAM26210,CAQ06582,EAX03588,EAX03589,EAX03590,CAQ09555,CAQ10686,CAQ09611,AAB47496 Hs.549204,Hs.699821 GDB:11504833 C6orf31|NG5 chromosome 6 open reading frame 31 protein-coding 1602444 PRRT2 proline-rich transmembrane protein 2 16303743,14702039,12477932,9373149 112476 NM_145239,AC009133,CH471238,AK074572,AK092265,AK098379,AK225785,AK292393,AL834185,BC011405,BC053594,BG702892,CR622842,DC332235,H46459 NP_660282,EAW79990,EAW79991,EAW79992,EAW79993,BAC11067,BAC03843,BAF85082,CAD38881,AAH11405,AAH53594,Q7Z6L0 Hs.655071 DKFZp547J199|FLJ25513 protein-coding 1605239 PRRT3 proline-rich transmembrane protein 3 16344560,15489334,15340161,14702039,12975309,12477932 285368 NM_207351,AC018809,CH471055,AK090993,AY358158,BC040508,BC089447,BC111555,DA198780 NP_997234,EAW64044,EAW64045,BAC03564,AAQ88525,AAH40508,AAH89447,AAI11556,Q5FWE3 Hs.654676 FLJ33674|MGC105134|MGC33990 protein-coding 1606834 PRRX1 paired related homeobox 1 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. 1509260,17234762,16710414,16582099,15489334,12539042,12477932,11463719,11063257,11036080,10737800,10397741,9373149,9334314,8125298,7760827 5396 NM_006902,NM_022716,CH471067,Z97200,AA452918,AA758879,AK225968,AV750422,BC074993,BI039001 NP_008833,NP_073207,EAW90882,EAW90883,AAH74993,P54821,ABZ92177 Hs.702224 PHOX1|PMX1|PRX1 protein-coding 1322947 PRRX2 paired related homeobox 2 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. 1580863 11063257,9665387,17964282,16582099,15496970,15489334,12713735,12477932,11893718 51450 U81600,NM_016307,AL590369,CH471090,AF061970,AY662674,BC014645 AAB39864,Q5ISC7,Q5SZB5,Q99811,NP_057391,CAI14511,EAW87901,AAF17708,AAV84357,AAH14645 Hs.660115 MGC19843|PMX2|PRX2 protein-coding 1343772 PRS Prieto X-linked mental retardation syndrome 1673297,1605216 5640 GDB:128368 1349554 PRSM2 protease, metallo, 2 5643 GDB:1230469 735824 PRSS1 protease, serine, 1 (trypsin 1) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. 1599960,1599965,1599966,1599961,1599967,1580863 8841182,14718574,18272034,18184119,18076731,18063422,17981921,17613931,17489851,17480209,17087724,17069643,17003641,16954950,16764792,16685108,16534247,16327984,15952740,15786540,15776435,15749231,15725718,15678497,15651064,15342556,15329520,15082592,15017610,14695529,14526128,12939655,12832630,12792776,12765848,12690205,12543931,12529713,12477932,12395893,12360463,12189145,12120234,12120220,12021776,11938439,11932257,11866271,11788572,11734061,11719509,11708864,11702203,11549837,11278730,11260229,11073713,11073545,11057674,10930381,10909845,10835640,10512713,10419450,10381903,10204851,9732462,9633818,9402754,9322498,9169621,8910369,8683601,8650574,8340386,6589790,3011602,2598466,2437112,1370825,1763044 1599960,1599965,1599966,1599961,1599967 5644 NG_001333,AF314534,AF315309,AF315310,AF315311,AY234116,AY234117,AY234118,AY234119,AY234120,AY234121,AY234122,AY234123,AY254094,AY254095,AY307359,AY307360,CH236959,CH471198,DQ128082,U66061,U70137,AA835201,BC035777,BC103998,BC128226,BP321959,DQ778083,M22612,NM_002769 NP_002760,AAG30943,AAG30947,AAG30948,AAG30949,AAP59550,AAO85796,AAO85797,AAO85798,AAO85799,AAO85800,AAO85801,AAO85802,AAP42827,AAP42828,AAP74363,AAP74364,EAL23773,EAW51925,AAZ40216,AAC80207,AAC50728,AAI03999,AAI28227,ABI63347,AAA61231,P07477,Q3SY19,Q45KI0,Q53ZF3,Q53ZV8,Q53ZX7,Q53ZX8,Q53ZX9,Q7Z445,Q7Z5P3,Q7Z5Y9,Q86W17,Q86W18,Q86W19,Q86W20 Hs.654498 GDB:119620 MGC120175|MGC149362|TRP1|TRY1|TRY4|TRYP1 pancreatic trypsin 1 protein-coding 733403 PRSS12 protease, serine, 12 (neurotrypsin, motopsin) This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. 704346,737771,1580863 12477932,12459588,10343120,10103056,9540828,9245503 704346,737771 8492 NM_003619,A83630,AC096762,CH471057,AF077298,AJ001531,BC007761 NP_003610,CAB69270,EAX06317,EAX06318,AAD25919,CAA04816,AAH07761,P56730,Q96I80 Hs.654823 GDB:9955271 BSSP-3|BSSP3|MGC12722|MOTOPSIN|MRT1 protein-coding 1315387 PRSS16 protease, serine, 16 (thymus) This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. 1580863 10527559,17584581,15592422,14702039,14574404,12140752,8812418 10279 AL021808,CH471081,AA580758,AF052514,AK093590,AK097918,AK098033,AK126160,AK226091,AY305022,AY305024,AY305025,NM_005865 CAB94769,EAX03088,EAX03089,AAC33563,BAC86466,AAP74971,AAP74973,NP_005856,AAP74974,Q6ZTW3,Q7Z5N5,Q7Z5N6,Q7Z5N8,Q9NQE7,AAI56192,AAI56929 Hs.274407 GDB:11501182 FLJ36271|FLJ40714|FLJ44172|TSSP protein-coding 1347326 PRSS2 protease, serine, 2 (trypsin 2) This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. 1580863 17640760,16699518,15952740,15776435,15651064,14695529,12949286,12690205,12477932,11420435,11391623,11355948,11106574,11073713,9822200,9732462,9578462,12709065,16192646,12731883,18362849,18063422,18062964,9261109,8650574,8573092,8478942,3011602,2610933,2598466,1079768,12775419,1763044 5645 NM_002770,NG_001333,AF009664,CH236959,CH471198,U66061,AY052784,BC005814,BC030260,BC103997,BC107784,DQ846872,DQ846873,M27602 NP_002761,AAC13351,EAL23774,EAW51922,EAW51923,AAC80209,AAL14244,AAH05814,AAI03998,AAI07785,ABI63359,ABI63360,AAA61232,P07478,Q3SY20,Q5NV56,Q6PK75,Q7Z5F3,Q8N1C9,ABM81970,ABM85149 Hs.622865 GDB:335289 MGC111183|MGC120174|TRY2|TRY8|TRYP2 protein-coding 1344108 PRSS21 protease, serine, 21 (testisin) This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. It is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and it may be involved in progression of testicular tumors of germ cell origin. Alternative splicing of this gene results in three transcript variants encoding three different isoforms. 1580863 10397266,9826525,16810501,15685234,15489334,12975309,12477932,11004480,10600542 10942 NM_006799,NM_144957,NM_144956,AC005361,AC092117,AF058301,CH471112,AB031329,AB031330,AB031331,AF058300,AY359034,BC074999,BC075000,CR590593,CR605277 NP_006790,NP_659206,NP_659205,AAF79019,AAF79020,EAW85463,EAW85464,EAW85465,EAW85466,EAW85467,BAA83520,BAA83521,BAA89532,AAD41588,AAQ89393,AAH74999,AAH75000,Q9Y6M0 Hs.72026 GDB:9958623 ESP-1|ESP1|TEST1|TESTISIN protein-coding 1322033 PRSS22 protease, serine, 22 This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. 1580863 16176265,15701722,15616553,15489334,12975309,12477932,11602603 64063 NM_022119,AC003965,CH471112,AB010779,AF321182,AW083723,AY358396,BC009726,BQ893064,CR591551,CR608374,CR626637 NP_071402,AAB93671,EAW85456,BAB20263,AAG35070,AAQ88762,AAH09726,Q9GZN4 Hs.459709 GDB:11507540 BSSP-4|MGC9599|SP001LA|hBSSP-4 protein-coding 1346659 PRSS23 protease, serine, 23 This gene encodes a member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels after ovulation was induced. This gene seems to be highly conserved in vertebrates and may be an important ovarian protease. 1580863 11256614,16870946,16381901,16344560,16303743,16169070,15489336,15489334,12975309,12878157,12477932,11230166,11076863 11098 AP000654,CH471076,AF015287,AF193611,AK075362,AL136914,AU279649,AY359033,BC001278,BG286404,CB113923,CR456824,CR591812,CR594839,CR596737,CR596876,CR598694,CR599725,CR602641,CR604686,CR607039,CR607812,CR608853,CR609619,CR612074,CR613177,CR614859,CR615791,CR616418,CR620693,CR622497,CR623760,CR624329,DA910788,NM_007173 NP_009104,EAW75145,EAW75146,AAD01553,AAF07186,CAB66848,AAQ89392,AAH01278,CAG33105,O95084,CAL37410,CAL38408 Hs.25338 MGC5107|SIG13|SPUVE|ZSIG13 protein-coding 1353298 PRSS27 protease, serine 27 Pancreasin is a pancreatic tryptic serine peptidase that cleaves peptides after an arginine residue.[supplied by OMIM] 15489334,14702039,12975309,12477932,12441343 83886 NM_031948,AC092117,CH471112,AB056161,AJ306593,AK055576,AY030095,AY359106,BC034294,BC036912 NP_114154,EAW85485,EAW85486,BAB85497,CAC35467,AAK38168,AAQ89464,AAH34294,Q9BQR3 Hs.332878 GDB:11507542 CAPH2|MPN protein-coding 1343422 PRSS29P protease, serine, 29 pseudogene 17947681 123787 NG_002329,AC120498,AF529082 ISP2 pseudo 734183 PRSS3 protease, serine, 3 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Two transcript variants encoding different isoforms have been described for this gene. 1580863 6698368,14507909,15313892,8294000,17623652,17406981,16759229,16492676,16412431,16013053,15987713,15855826,12860985,12477932,11827488,11057674,9099703,7498454,2326201 5646 NG_001337,NM_007343,AF029308,AL139113,AL356489,AL358573,CH471071,AB298285,AB298286,AY052783,BC030238,BC069476,BC069494,D45417,X15505,NM_002771,X71345,X72781 NP_002762,NP_031369,AAC13322,CAI39655,CAI39658,CAH69873,CAI39513,CAI39514,CAI39515,EAW58481,EAW58482,EAW58483,EAW58484,BAF80324,BAF80325,AAL14243,AAH30238,AAH69476,AAH69494,BAA08257,CAA33527,CAA50484,CAB58178,P35030,Q5JT15,Q5JT16,Q5VXV0,Q6ISJ4,Q7Z5F4,Q8N2U3 Hs.654513 GDB:335297 MTG|PRSS4|TRY3|TRY4 pancreatic trypsin 2|protease, serine, 3 (mesotrypsin) protein-coding 1323608 PRSS33 protease, serine, 33 12795636,12477932 260429 NM_152891,AC092117,CH471112,AF536382,BC036846,BC062334 NP_690851,EAW85469,EAW85470,AAN04055,AAH36846,AAH62334,Q8NF86 Hs.280658 EOS protein-coding 1322654 PRSS35 protease, serine, 35 16870946,12975309,12477932 167681 NM_153362,AL121939,CH471051,AK291928,AY358661,BC037170,CR615063 NP_699193,CAC35071,EAW48662,EAW48663,BAF84617,AAQ89024,AAH37170,Q8N3Z0 Hs.98381 C6orf158|MGC46520|dJ223E3.1 protein-coding 1604524 PRSS36 protease, serine, 36 15536082,16341674,14702039 146547 NM_173502,AC009088,CH471192,CQ783206,AJ627034,AK075142,AK290310,AW450407,BC137396,BM768465,BU598342,CR609135 NP_775773,EAW52153,EAW52154,CAF86411,CAF25303,BAC11431,BAF82999,AAI37397,Q5K4E3 Hs.256632 FLJ90661 protein-coding 1322295 PRSS7 protease, serine, 7 (enterokinase) This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. 1599212,1580863 8052624,18062964,15489334,12907431,12477932,11913964,11719902,10830953,7718557,4322674,2093478,1147667 1599212 5651 NM_002772,AF246125,AL078474,AL163218,AP000455,AP000456,CH471079,CS223379,Y19124,BC111749,U09860 NP_002763,AAF97778,CAB90392,EAX10016,EAX10017,CAJ46929,CAB65555,AAI11750,AAC50138,P98073,Q9NR95 Hs.149473 GDB:384083 ENTK|MGC133046 protein-coding 730925 PRSS8 protease, serine, 8 This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. The proprotein is cleaved to produce a light chain and a heavy chain which are associated by a disulfide bond. It is active on peptide linkages involving the carboxyl group of lysine or arginine. 1580863,2292484,2292485,2292487,2292486 10077646,7768952,17940283,17532063,17145811,16541421,16103126,16061697,15489334,15474520,15246975,15231748,12626364,12477932,11756432,11274175,8838796,8034638 2292484,2292485,2292487,2292486 5652 NM_002773,AC009088,CH471192,U33446,BC001462,CR624569,L41351 NP_002764,EAW52155,EAW52156,AAB19071,AAH01462,AAC41759,Q16651,ABM83086,ABM86280 Hs.75799 GDB:676446 CAP1|PROSTASIN protease, serine, 8 (prostasin) protein-coding 1342482 PRSSL1 protease, serine-like 1 12975309,9533035 400668 NM_214710,AC004156,AC112708,AY358594,BC137161 NP_999875,AAQ88957,AAI37162,Q6UWY2 Hs.245146 UNQ782 protein-coding 1320925 PRTFDC1 phosphoribosyl transferase domain containing 1 17599052,16928426,16189514,14702039,12477932,9373149,8125298 56952 NM_020200,AL157385,AL512598,CH471072,AB209792,AF226056,AK021950,AK222674,BC008662,CR596757,CR615591,CR617937,CR619546 NP_064585,CAH70349,CAH70350,CAH70785,CAH70786,EAW86119,EAW86120,EAW86121,BAD93029,AAF86956,BAB13944,BAD96394,AAH08662,Q9NRG1 Hs.405619 FLJ11888|HHGP protein-coding 1606409 PRTG protogenin homolog (Gallus gallus) 15922677,12477932 283659 NM_173814,AC009997,AC012378,CH471082,AK098622,AY630258,BC073967 NP_776175,EAW77493,EAW77494,BAC05355,AAU05741,Q2VWP7,AAI40401 Hs.130957 FLJ25756 protein-coding 1347991 PRTH pituitary resistance to thyroid hormone 5656 GDB:265281 1312601 PRTN3 proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen) 1580863 17452051,17412886,17244676,17158864,17088257,16792675,16598772,16478888,16263417,16167885,15975933,15916759,15879139,15686586,15489334,15356169,15331626,15057824,14675038,14525959,12960243,12894870,12832446,12759451,12538645,12506139,12477932,12444202,12393722,12370398,12354776,12200377,12191967,12140766,12135665,12114510,12067299,12050185,12010574,11867344,11714826,11389039,11115080,10512713,10498622,10339575,9924693,8757293,8738804,8629812,15527767,2598267,18023421,17785293,17712045,17681950,17634439,17534941,8261669,7654387,3513185,2679910,2501794,2404977,2377228,2285532,2258701,2242436,2121162,2033050,2001463,1688612,1681549,1518849,1400430 5657 AC004799,AF015449,CH471139,NM_002777,M96628,M96839,BC096183,BC096184,BC096185,BC096186,M29142,M75154,X55668,X56132,X56606 NP_002768,AAD21524,EAW69590,EAW69591,AAB59364,AAB59493,AAH96183,AAH96184,AAH96185,AAH96186,AAA36342,AAA59558,CAA39203,CAA39597,CAA39598,CAA39943,P24158,Q4VB08,Q6LBN2 Hs.928 GDB:126876 ACPA|AGP7|C-ANCA|MBT|P29|PR-3 protein-coding 1350944 PRUNE prune homolog (Drosophila) 17655525,16428445,15671547,12477932,11687967,10602478,10524757 58497 NM_021222,AL590133,CH471121,AF051907,AF123538,AF123539,AK027875,AL122054,AL137324,BC014886,BC017755,BC025304,BC063481,CR591415,CR614108,U67085 NP_067045,CAI13338,CAI13339,CAI13340,CAI13341,CAI13342,CAI13343,EAW53485,EAW53486,EAW53487,EAW53488,EAW53489,EAW53490,AAC95290,AAK00592,AAK00593,BAB55423,CAH56396,AAH14886,AAH25304,AAH63481,AAF04914,Q5SZF2,Q5SZF9,Q5SZG1,Q659E5,Q6P4E0,Q86TP1,Q8N654,Q96JU5,Q9C071,Q9C072,Q9UIV0,ABM83745,ABM87064 Hs.78524 DRES-17|HTCD37 protein-coding 1322392 PRUNE2 prune homolog 2 (Drosophila) 737633 16288218,18445682,17360660,17081983,16344560,16189514,12477932,15489334,15164053,12168954,11181995,9205841 737633 158471 NM_138818,NM_015225,AL161626,AL359314,AL390239,CH471089,AB002365,AB050197,AL834213,AY439213,AY439214,BC019095,BC022571,BQ008420,DA410068 NP_620173,NP_056040,CAI39747,CAI39749,CAI39750,CAI39752,CAI16084,CAI16085,CAO03468,EAW62581,EAW62582,EAW62583,EAW62584,EAW62585,EAW62586,EAW62587,EAW62588,EAW62594,BAA20822,BAD93351,AAR15150,AAR15151,AAH19095,AAH22571,Q58A63,Q5JUB9,Q5T473,Q5T474,Q5T475,Q8WUY3 Hs.262857,Hs.711085 A214N16.3|BMCC1|BNIPXL|C9orf65|DKFZp762K117|KIAA0367|RP11-58J3.2|bA214N16.3 protein-coding 1351983 PRX periaxin The PRX gene encodes L- and S-periaxin, proteins of myelinating Schwann cells, and is mutated in Dejerine-Sottas syndrome (MIM 145900) and Charcot-Marie-Tooth disease type 4F (MIM 145900).[supplied by OMIM] 1580863 11133365,17081983,16770524,16534116,15489334,15197604,12477932,12112076,12107413,11835375,11430802,11157804,10997877,10848494,10839370,10671475,9143514,14625392 57716 AC010271,CH471126,AB046840,AF321191,AF321192,BC067266,CD674402,NM_020956,NM_181882 NP_870998,EAW56962,EAW56963,BAB13446,AAK19279,AAK19280,AAH67266,Q9BXM0,NP_066007 Hs.205457 GDB:11501256 CMT4F|KIAA1620 protein-coding 1348546 PRY PTPN13-like, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. 15489334,15177557,12815422,12477932,11420382,9381176 9081 NM_004676,NG_004755,AC008175,AF000988,AF517635,BC113548,BC113550 NP_004667,AAC51835,AAN06674,AAI13549,AAI13551,O14603 Hs.158343 GDB:9954842 PRY1|PTPN13LY protein-coding 1349286 PRY2 PTPN13-like, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. 15177557,12815422,9381176 442862 NM_001002758,NG_004755,AC007359,CH878735 NP_001002758,EAW61212,AAI48537,AAI53129 Hs.632847 PRY|PTPN13LY|PTPN13LY2 protein-coding 2291812 PRYP1 PTPN13-like, Y-linked pseudogene 1 12815422 442863 NG_004636,AC007742 pseudo 2291811 PRYP2 PTPN13-like, Y-linked pseudogene 2 12815422 442864 NG_004636,AC024183 pseudo 2291810 PRYP3 PTPN13-like, Y-linked pseudogene 3 12815422 442865 NG_004755,AC016752 pseudo 2291809 PRYP4 PTPN13-like, Y-linked pseudogene 4 12815422 442866 NG_004755,AC007965 pseudo 736284 PSAP prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 14674747,12813057,12518053,12510003,12477932,12083803,11856752,11734895,11313879,11309366,11231313,11180632,10682309,10562467,10510427,10406958,9751800,9373149,8641138,8554069,8370464,8323276,8125298,7866401,7730378,7613473,6256275,3478817,3442600,3242555,3048308,2868718,2845979,2842863,14716313,2825202,2515150,2717620,1454804,17961073,17893707,17712477,17561962,17372201,17300216,17171640,17044040,16823039,16713569,16199891,16080200,15897971,15606899,15548330,15489334,15305334,15231748,2498298,2320574,2302219,2209618,2066109,2060627,2025281,2019586,2013321,1958198,1612590,1371116,16189514 5660 CR610120,CR610308,CR611435,CR612207,CR615641,CR616446,CR617297,CR619008,D00422,J03015,J03077,M32221,M60255,M60257,M60258,M81355,CR601838,NM_002778,NM_001042465,NM_001042466,AC073370,AF057307,AF307850,AL731541,CH471083,M86181,X57107,X57108,AB209776,AK057878,AK129790,AK223290,BC001503,BC004275,BC007612,BC091483,BT006849,CR456746,CR591875,CR594967,CR595661,CR596283,CR596748,CR597622,CR597796,CR599745,CR600349 BAA00321,AAB59494,AAA52560,AAA60303,AAA36594,AAA36595,AAA36596,O75905,P07602,Q53FJ5,Q59EN5,Q5BJH1,NP_002769,NP_001035930,NP_001035931,AAC64921,AAG31635,EAW54436,EAW54437,EAW54438,CAA40391,CAA40392,BAD93013,BAD97010,AAH01503,AAH04275,AAH07612,AAH91483,AAP35495,CAG33027,Q5JQ36,Q5JQ37,ABM83935,ABM87254 Hs.523004,Hs.705948 GDB:120366 FLJ00245|GLBA|MGC110993|SAP1 prosaposin protein-coding 1603414 PSAPL1 prosaposin-like 1 15489334,14702039,12477932,9847074 768239 AC080003,AK097698,BC034552,BC048325,BC063708,BC068579,DQ991252,NM_001085382 BAC05143,AAH68579,ABJ55983,Q6NUJ1,NP_001078851 Hs.662523 FLJ40379 protein-coding 1607031 PSAT1 phosphoserine aminotransferase 1 The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and Drosophila. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 10637769,18221502,15489334,12633500,12477932,3651428 29968 NM_058179,NM_021154,AL353594,CH471089,AF113132,AK025460,AY131232,BC000971,BC004863,BC016645,BC018129,BT006840,CR595610,CR604215,CR619649 NP_478059,NP_066977,CAI16882,CAI16883,EAW62617,EAW62618,EAW62619,EAW62620,EAW62621,EAW62622,EAW62623,AAD42052,AAN71736,AAH00971,AAH04863,AAH16645,AAH18129,AAP35486,Q5T7G5,Q5T7G6,Q9Y617,ABM85052 Hs.494261,Hs.592595 EPIP|MGC1460|PSA|PSAT protein-coding 1345904 PSBP1 prostatic steroid binding protein 1 5661 GDB:700075 1321185 PSCA prostate stem cell antigen This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene has a nonsynonymous nucleotide polymorphism at its start codon. 1580863 9465086,18488030,18184265,18076024,17853904,17549363,17503471,17492652,16957968,16341674,16024997,16015594,15814638,15489334,15340161,14702039,12975309,12496358,12477932,12351697,11980648,11752398,11406532,10973799,10713670,15765097 8000 NM_005672,AC108002,CH471162,AF043498,AJ297436,AK092432,AY358912,BC023582,BC048808,BC065183,BM768967 NP_005663,EAW82312,EAW82313,AAC39607,CAB97347,BAC03889,AAQ89271,AAH23582,AAH65183,O43653,Q8NAM3 Hs.652235,Hs.711174 GDB:9954416 PRO232 protein-coding 736054 PSCD1 pleckstrin homology, Sec7 and coiled-coil domains 1(cytohesin 1) Pleckstrin homology, Sec7 and coiled/coil domains 1 (PSCD1) is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The PSCD1 is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. PSCD1 protein is 83% homologous to PSCD2. 1580863 12606567,1511013,15778383,15489334,14702039,12477932,12052827,11438522,10835351,10772823,10748148,10652308,10341214,10212218,10092663,9756891,9693361,9653114,9614087,9110174,8706128,8619474,8449036,12920129,9765275,9050849,11867758 9267 NM_017456,NM_004762,AC022966,AC099804,AF125362,CH471099,AF054997,AK091369,AK123894,BC038385,BC050452,M85169 NP_059430,NP_004753,AAF37737,AAF37738,EAW89530,EAW89531,EAW89532,BAC85719,AAH38385,AAH50452,AAA36602,Q15438,Q6ZVY9 Hs.191215 GDB:9955571 B2-1|CYTOHESIN-1|D17S811E|FLJ34050|FLJ41900|SEC7 pleckstrin homology, sec7 and coiled/coil domains 1 protein-coding 737071 PSCD2 pleckstrin homology, Sec7 and coiled-coil domains 2 (cytohesin-2) Pleckstrin homology, Sec7 and coiled/coil domains 2 (PSCD2) is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. PSCD2 exhibits GEP activity in vitro with ARF1, ARF3, and ARF6. PSCD2 protein is 83% homologous to PSCD1. Two transcript variants encoding different isoforms have been found for this gene. 1580863 11850456,11533043,10806099,10801341,10748148,10708517,10652308,10531036,9925920,9550703,9510256,9476900,9050849,8945478,8706128,17786213,15778465,12052827,9417041,14654833,16415858,17623778,17398095,16484220,16189514,16027149,15489334,15277685,14702039,12920129,12641750,12477932,12438709 9266 NM_017457,NM_004228,AC008403,CH471177,AB209573,AK091443,AK292405,BC004361,BC038713,CR591768,CR591823,CR593517,CR596472,CR598477,CR599552,CR600368,CR607678,CR608279,CR608702,CR610853,CR611270,CR612861,CR614084,CR616768,CR617009,CR621270,CR621404,CR623405,U70728,X99753 NP_059431,NP_004219,EAW52349,EAW52350,EAW52351,BAD92810,BAF85094,AAH04361,AAH38713,AAB09591,CAA68084,Q59F87,Q99418,ABM83491,ABM87855 Hs.144011 GDB:9955568 ARNO|CTS18|CTS18.1|PSCD2L|SEC7L|Sec7p-L|Sec7p-like pleckstrin homology, sec7 and coiled/coil domains 2 protein-coding 731880 PSCD2L pleckstrin homology, Sec7 and coiled/coil domains 3 1580863 9925920 9224 Q15795 U59752 GDB:9955488 1348510 PSCD3 pleckstrin homology, Sec7 and coiled-coil domains 3 This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. 1580863 9707577,9742223,18084281,16189514,15878955,15489334,14702039,12853948,12690205,12477932,10828067,10652308,9072969,12920129 9265 AC004895,AC009412,AC092439,CH236963,CH878731,AJ005197,AJ223957,AK023609,BC008191,BC028717,BG620295,NM_004227,CB988199,CR594486,CR626246 NP_004218,AAS00357,AAS00358,AAS07510,EAL23717,EAW55046,CAA06434,CAA11686,AAH08191,AAH28717,O43739,Q75ML1,Q75MW6,Q96HS5,ABM82662,ABM85838,ABW03411 Hs.487479 GDB:9955565 ARNO3|GRP1 protein-coding 1345777 PSCD4 pleckstrin homology, Sec7 and coiled-coil domains 4 Pleckstrin homology, Sec7 and coiled/coil domains 4 (PSCD4) is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The PSCD4 exhibits GEP activity in vitro with both ARF1 and ARF5 but is inactive with ARF6. The PSCD4 and PSCD1 gene structures are very similar. 1580863 10652308,18084281,15489334,15461802,15302935,14702039,12477932,10591208,8593609,12920129 27128 NM_013385,CH471095,Z94160,AF075458,AF125349,AK002145,AK024428,BC017780,BC033693,BC041161,CR456551,CR597077,CR604959,CR610000,CR626739 NP_037517,EAW60154,EAW60155,EAW60156,CAI22121,AAF15389,AAF28896,BAA92107,BAB15718,AAH17780,AAH41161,CAG30437,Q8WWE8,Q9H7Q0,Q9NUL6,Q9UIA0,CAK54582,CAK54881 Hs.170944 GDB:10795926 CYT4|DJ63G5.1 protein-coding 1317500 PSCDBP pleckstrin homology, Sec7 and coiled-coil domains, binding protein The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, and it does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. 1580863 11867758,12606567,17577583,16702224,15815621,15489334,12477932,12052827,10343115,8241278 9595 AC019201,NM_004288,CH471058,AF068836,BC036449,CD642163,CR594595,CR611736,L06633 AAY14898,NP_004279,EAX11447,AAC19129,AAH36449,AAA16575,O60759 Hs.270 GDB:9957464 B3-1|CASP|CYBR|CYTIP|HE protein-coding 733797 PSD pleckstrin and Sec7 domain containing 18084281,17579087,12477932,9417912 5662 NM_002779,AL121928,CH471066,AB095931,AF452641,BC037332,BC039259,BC142643,BC142689,CR610304,CR611398,CR616163 NP_002770,EAW49693,EAW49694,EAW49695,BAC23107,AAP97695,AAH39259,AAI42644,AAI42690,A5PKW4,Q5JWA3,Q7Z4R5,Q86YI3 Hs.154658 GDB:6542305 KIAA2011|PSD1|TYL exchange factor for arf6 protein-coding 1322340 PSD2 pleckstrin and Sec7 domain containing 2 1580863 16381901,15489336,12477932,11256614,11230166,11076863 84249 NM_032289,AC008667,CH471062,AL136559,AL834268,BC038233 NP_115665,EAW62088,EAW62089,CAB66494,CAD38943,AAH38233,Q0JRX1,Q9BQI7,CAL38743 Hs.21963 DKFZp761B0514 protein-coding 1603689 PSD3 pleckstrin and Sec7 domain containing 3 16344560,16270321,15489334,14702039,12477932,12168954,12097419,10231032 23362 NM_206909,AC009884,AC087821,AC090420,AC100800,AC120051,CH471080,AB023159,AF243495,AF519767,AK091317,AL353936,AL599849,AL832778,BC011238,BC045112,BC075044,BC075045,NM_015310,BX647320,BX647406,DB055312 NP_056125,NP_996792,EAW63779,EAW63780,EAW63781,EAW63782,EAW63783,BAA76786,AAF61269,AAM74203,AAH11238,AAH75044,AAH75045,CAI46004,Q5HYL1,Q7L3Y3,Q9NYI0 Hs.434255 DKFZp761K1423|EFA6R|HCA67 protein-coding 1321104 PSD4 pleckstrin and Sec7 domain containing 4 1580863 18084281,15815621,15489334,14702039,12477932,12082148,11050434,8889548 23550 NM_012455,AC016683,CH471217,DQ452296,AA429250,AB208798,AJ459781,AK023421,AK093556,AK094598,AK290045,BC035307,BC073151,BM930990,BQ061445,BU947428,CR598168,U63127 Q8NDX1,ABW03422,NP_036587,AAX88879,EAW73626,EAW73627,EAW73628,ABD96831,BAD92035,CAD30842,BAF82734,AAH35307,AAH73151,AAD00107,Q59HG0 Hs.708098 EFA6B|FLJ36237|FLJ37279|TIC protein-coding 731724 PSEN1 presenilin 1 (Alzheimer disease 3) Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Multiple alternatively spliced transcript variants have been identified for this gene, the full-length natures of only some have been determined. 1580694,1331525,1302519,729595,1300048,1302520,1334462,1580863 12147673,12121968,12119298,12112163,12111439,12070348,12058025,12056836,12050157,12048259,12048239,11987239,11973477,11943765,11927360,11920851,11912199,11905990,11904448,11891288,11876645,11836371,11799129,11775232,11757955,11755019,11744687,11738826,11719200,11710891,11568920,11524469,11518718,11504726,11444983,11436125,11389157,11226248,11200686,11168528,11140838,11129109,11110974,11104755,11094121,11076969,11030797,11027672,10993067,10899933,10854253,10811883,10635315,10631141,10593990,10587643,10545183,10533070,10521466,10447269,10446169,10441572,10439444,10401002,10369872,10366599,10208590,10208579,10206645,10200054,10092585,10090481,10077672,10069390,10037471,10025789,9915968,9851450,9851443,9833068,9831473,9738936,9719376,9712537,12192622,8755489,9689133,10551805,12297508,15274632,10805794,11953314,10206644,17431506,9298903,8878479,12377771,9246482,18479822,18403054,18320103,18293935,18239458,18090315,18028191,18024701,17962197,17852592,17719017,17718701,17645236,17632280,17630980,17627113,17594345,17588625,17573346,17560791,17553989,17507029,17502474,17489097,17412506,17405936,17401156,17389597,17366635,17349981,17320044,17309564,18376127,14759258,14717705,14741365,14702039,14645205,14625299,14590205,14581682,14576165,14572442,14515347,14504279,14502086,13678586,12960155,12935881,12925374,12901838,12885769,12885573,12850546,12846562,12821663,12817569,12805290,12794186,12752408,12742741,12740439,12686406,12679784,12668610,12660785,12639958,12629514,12609057,12603837,12551931,12535650,12522139,12508121,12495082,12493737,12484344,12477932,12471034,12470641,12460547,12444985,12435726,12413003,12374741,12354302,12297048,12230303,12218704,12214059,12207970,12198112,12196555,15843437,15776278,15764596,15764367,15743767,15732120,15722417,15703411,15629423,15622541,15591316,15569674,15549135,15537629,15534260,15534188,15534001,15489334,15480879,15480851,15476169,15469450,15345747,15341515,15340889,15322084,15308304,15294909,15272895,15240571,15210705,15209417,15205973,15192701,15159497,15147205,15123653,15123598,15122701,15119739,15115757,15087467,15004326,15003276,14993906,14769392,17268504,17259169,17229472,17210196,17192785,17158800,17108181,17099291,17088253,17081983,16952411,16941492,16938285,16916581,16908988,16897084,16846981,16815845,16814287,16756946,16628450,16620965,16605258,16574645,16569643,16423463,16407539,16401857,16388371,16376112,16344340,16306047,16305624,16267640,16234244,16234243,16139258,16135086,16128583,16126725,16116115,16079160,16046406,16014629,16006137,15975090,15975068,15951428,15946688,15936948,15917251,15908021,15866047,15851849,17268505,9544835,9521423,9521418,9507958,9485372,9443865,9437013,9436726,9384602,9373149,9298817,9225696,9223106,9173929,9172170,9144240,9073509,9070286,9052708,9013610,9007311,8931704,8922407,8875251,8837617,8804415,8742474,8733303,8641442,8634712,8634711,8574969,8125298,7651536,7623584,7596406,7550356,1411576,1349467,1303289,16189514,15257293,15037614,10341227,9852041,15322109,14756819,15448688,15109302,10801777,9223340,10891589,9632714 1580694,1331525,1302519,729595,1302520,1334462 5663 NG_007386,AB159776,AC004846,AC004858,AF109907,CH471061,D84149,L76528,AF416717,AJ008005,AK122722,AK223173,BC002708,BC011729,CR595392,L42110,L76517,U40379,U40380,NM_000021 NP_000012,BAD30017,AAF19253,AAF19254,AAC97960,EAW81091,EAW81092,EAW81093,EAW81094,EAW81095,EAW81096,EAW81097,BAA20883,AAB46371,AAL16811,CAA07825,BAD96893,AAH11729,AAB46416,AAB46370,AAB05894,AAB05895,P49768,Q53FV8,Q6F4C0 Hs.592324 GDB:135682 AD3|FAD|PS1|S182 presenilin 1 protein-coding 733569 PSEN2 presenilin 2 (Alzheimer disease 4) Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. 729530,1302522,1300048,1302521 12297508,15274632,8939861,9298903,18427071,18293935,18283638,18087668,17903177,17727891,17614368,17560791,17412506,17401676,17401156,17345043,17268505,17268504,16620965,16474849,16423463,16375654,16344560,16258850,16233903,16135086,16014629,15975068,15951428,15776278,15755689,15663477,15629423,12058025,12048259,11987239,11904448,11891288,11876645,11847232,11799129,11738826,11719200,11568920,11518718,11436125,11076969,11001931,10993067,10922078,10854253,10748169,10732806,10677567,10652302,10631141,10497236,10446169,10369872,10366599,10361981,10078972,10069390,10037471,9990034,9852298,9813158,9771752,9683324,9558331,9521418,9450781,9437013,9384602,9252383,9219695,9073509,9050898,8972483,8940094,8878479,8661049,15537629,15534001,15489334,15006697,15004330,14769392,14741365,14577603,14504279,12925374,12885769,12846562,12817569,12770698,12639958,12605888,12556443,12477932,12471034,12403846,12232783,12210343,12198112,12173418,15591316,8618867,8574969,7651536,7638622,7638621,16189514,9223340 729530,1302522,1302521 5664 NM_012486,NM_000447,NG_007381,AL359732,AL391628,CH471098,U50871,AF416718,AI091221,AK292299,BC006365,BT006984,CR594395,DA198818,DA915823,L43964,L44577,U34349 NP_000438,NP_036618,EAW69796,EAW69797,EAW69798,EAW69799,EAW69800,AAB50054,AAL16812,BAF84988,AAH06365,AAP35630,AAB59557,AAC42012,AAC50290,P49810,Q5VW83,Q5VW84,ABM81572,ABM84752 Hs.25363 GDB:633044 AD3L|AD4|PS2|STM2 presenilin-2 protein-coding 1347919 PSENEN presenilin enhancer 2 homolog (C. elegans) Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. 16641999,15274632,17668005,17280645,16449647,16331303,16234244,16234243,15975090,15953349,15489334,15322109,15322084,14572442,12763021,12740439,12679784,12660785,12639958,12522139,12477932,12198112,12110170,16189514 55851 NM_172341,AD000671,AF220053,BC009575,BQ222622 NP_758844,AAF67646,AAH09575,Q9NZ42,ABM84021,ABM87367 Hs.534465 MDS033|MSTP064|PEN-2|PEN2 protein-coding 1352538 PSG1 pregnancy specific beta-1-glycoprotein 1 1580863 1572651,16381901,16303743,15489336,15489334,15057824,14702039,12477932,12223519,11076863,9290143,7794280,3265688,3260773,3257488,3180995,2786492,2783133,2735907,2541441,2537643,2377620,2350345,2346748,2341148 5669 AC005238,AF106542,CH471126,M22437,AK056754,BC022338,BC058285,CR450329,CR590178,CR591870,CR595633,CR597449,CR597619,CR600097,CR601679,CR601994,CR602381,CR603734,CR605150,CR606557,CR609429,CR609859,CR609860,CR610788,CR611664,CR612067,CR612366,CR613576,CR614244,NM_006905,CR616434,CR616751,CR621768,CR622475,CR622724,CR626825,J04539,M17908,M17909,M20879,M20881,M21822,M25385,M33663,M33664,M34715,M37397 NP_008836,AAC25484,AAC25485,AAC25486,AAC25487,AAC25488,AAC25489,AAC25490,AAD21020,EAW57154,EAW57155,EAW57156,EAW57157,EAW57158,EAW57159,EAW57160,EAW57161,AAA60196,AAH22338,AAH58285,CAG29325,AAA60204,AAA52590,AAA52591,AAA52602,AAA52603,AAA52601,AAA36513,AAA36517,AAA36515,AAA36511,AAA60960,O75237,O75238,P11464,Q0JSJ3,Q6ICR4,Q8NBY8,Q8NC17,Q9UMI0,Q9UPK8,Q9UPK9,CAL38076,CAL38478,CAL38521 Hs.699167 GDB:120321 B1G1|CD66f|DHFRP2|FLJ90598|FLJ90654|PBG1|PSBG1|PSGGA|PSGIIA|SP1 protein-coding 1344333 PSG10 pregnancy specific beta-1-glycoprotein 10 1580863 2271648,2789512,15057824,8349632,2783133,2537643,2377620,1690992,1572651 440535 Q15228,Q15235 L14723,AF106552,AF106559,AF106560,L14724,L14725,L14726,L14727,L14728,L14729,M74108 AAD28501,Q15228,Q15235 Hs.655399 GDB:132144 PSG12|PSG6 protein-coding 1353660 PSG11 pregnancy specific beta-1-glycoprotein 11 1580863 1690992,7794280,12477932,10737800,7851895,1840485 5680 NM_002785,NM_001113410,AC004700,AC004784,AC005392,AC005791,AC005947,AC024077,AC093032,AC098787,AF106562,AF129398,CH471126,BC020711,BE767872,BF084984,BG571293,BG619770,CR593207,CR603744,CR606430,CR609036,CR611863,CR614699,CR615005,CR617319,CR620285,NM_203287,CR623062,M69245,R66665,U25988 NP_976032,NP_002776,NP_001106881,AAD21024,AAD38357,EAW57166,EAW57167,EAW57168,AAH20711,AAA36516,AAA75299,Q9UQ72 Hs.646353 GDB:128243 MGC22484|PSG13|PSG14 protein-coding 1343677 PSG2 pregnancy specific beta-1-glycoprotein 2 1580863 3260773,15906358,15489334,15231748,15057824,12477932,8432525,2377620,2350345,1690992 5670 AC005791,AC024077,AF106544,CH471126,BC022316,CR592018,CR592059,CR593222,CR596357,CR599583,CR600983,CR604601,CR604687,CR605064,CR605538,CR610366,CR613614,CR615378,CR625588,CR625690,NM_031246,CR626512,M20882,M37398 NP_112536,AAC62831,AAD21021,EAW57169,EAW57170,AAH22316,AAA52604,AAA60959,P11465,Q9UML9,ABM82285 Hs.502092 GDB:127538 CEA|PSBG2|PSG1|PSGGB protein-coding 1345606 PSG3 pregnancy specific beta-1-glycoprotein 3 1580863 2341148,3265688,2302228,16344560,15489334,15231748,15057824,12477932,8487756,7851895,2788412,2387594,2350345,16189514 5671 NM_021016,A23031,AC004654,AC005337,AF106546,CH471126,BC005924,BG620196,CR594229,CR596325,CR605585,CR613711,CR616698,CR625118,DA833589,M23575,M27907,M30628,M34420,M37399,M93061,S59493,S59494 NP_066296,CAA01646,AAC15513,AAD28498,EAW57146,EAW57147,EAW57148,AAH05924,AAA52607,AAA57349,AAA66498,AAA52606,AAA60958,AAA60207,AAC60584,AAC60585,Q08266,Q15226,Q15403,Q16557,ABM87461,ABW03894 Hs.654413,Hs.699167 GDB:128239 protein-coding 1348613 PSG4 pregnancy specific beta-1-glycoprotein 4 1580863 7794280,12477932,10737800,9645429,7851895,3180995,2783133,2537643,2346490,2271648,1922019,1690992 5672 AF289606,AK075149,BC008405,BC013431,BC035419,BC063127,BG006351,BT007413,BX403624,CR590580,CR597735,CR598758,CR605078,CR609817,CR611858,CR616976,CR621099,CR622324,CR625940,M33665,M94891,NM_213633,NM_002780,AC005392,AF106548,AF288220,CH471126,M32623,M32624,M32625,M32626,M32627,U18468,U18469 AAL55790,AAH08405,AAH35419,AAH63127,AAP36081,AAA60208,AAA60195,NP_998798,NP_002771,AAD28499,AAF91489,EAW57174,EAW57175,EAW57176,EAW57177,AAA75294,AAA75295,Q00888,Q49AM4,Q6P520,Q8WYY6,Q96QL5 Hs.502092 GDB:128240 PSG9 protein-coding 1353998 PSG5 pregnancy specific beta-1-glycoprotein 5 1580863 1690992,17978129,16563348,15489334,15231748,12477932,7851895,7794280,2789512,2735907,2537643,1922019,1454058,16189514 5673 AC005392,NM_002781,AF106550,CH471126,L36606,M32628,M32629,M32630,M32631,M32632,M32633,M32634,M32635,S49771,X63203,BC012607,CR592362,CR595886,CR602011,CR603900,CR605183,CR606280,CR607340,CR609451,CR612136,CR616270,CR619390,CR621678,CR624729,CR625219,L36607,M25384,M73713 NP_002772,AAD28500,EAW57171,EAW57172,EAW57173,AAA21881,AAB24372,CAA44885,AAH12607,AAA21765,AAA36514,AAA60205,Q13830,Q15229,Q15238,Q16502 Hs.654415 GDB:127984 FL-NCA-3|PSG protein-coding 1345325 PSG6 pregnancy specific beta-1-glycoprotein 6 1580863 1690992,15057824,12477932,7851895,7794280,2783133,2537643,2377620,2346748,2271648 5675 NM_001031850,NM_002782,AC005260,AF106552,CH471126,M32621,M37757,BC020652,CR590179,CR591201,CR596603,CR602028,CR614251,CR617115,CR617454,CR618354,CR621774,CR623127,M31125,M33666,X17098 AAC25620,NP_001027020,NP_002773,AAC25619,AAD28501,EAW57162,EAW57163,AAA60201,AAA60202,AAH20652,AAA36512,AAA60206,CAA34957,Q00889,ABM84040,ABM87387 Hs.654414 GDB:128631 PSG10 protein-coding 1347251 PSG7 pregnancy specific beta-1-glycoprotein 7 This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The reference genome contains a nonsense mutation that disrupts the coding sequence, suggesting that this gene may be evolving into a pseudogene. 1580863 1690992,15057824,12477932,11501563,7851895,7794280,7566098,2377620,1572651 5676 NM_002783,AC005260,AC093055,AF106553,AF106554,CH471126,M32619,M37754,M37755,M74105,AL546656,BC030979,BG434892,BX952498,DC380850,T29414,U18467 NP_002774,AAC25621,EAW57164,EAW57165,AAA60200,AAA60199,AAA75293,Q13046,Q15230 Hs.699167 GDB:128241 PSG1|PSGGA protein-coding 1346220 PSG8 pregnancy specific beta-1-glycoprotein 8 2302228,14702039,7851895,3263130,1672663,1572651 440533 AC004654,AF106555,AF106556,CH471126,M22311,M22312,M74106,M74196,AK092458,BC137500,BC142628,CR595658,CR597594,NM_182707,CR601051,CR604426,CR604837,CR609951,CR616492,CR749812,M30629 NP_874366,AAC15514,AAD21022,EAW57149,EAW57150,EAW57151,AAA60025,AAA60026,AAA60027,AAI37501,AAI42629,CAH18672,AAA67524,Q15106,Q15107,Q15108,Q15402,Q68CR6,Q9UQ74 Hs.466843 GDB:127985 DKFZp781L10202|PSG1 protein-coding 1349601 PSG9 pregnancy specific beta-1-glycoprotein 9 1580863 7794280,1690992,1922019,2537311,16169070,15982419,15489334,15231748,15057824,12477932,7851895,7806221,2346748,2341148,2328001,2322584,1581354 5678 NM_002784,AC005392,AF106558,CH471126,M38243,U04323,U04324,U04325,U08196,U08197,BC005925,BC020759,BX952516,CR407605,CR592773,CR592867,CR592973,CR593342,CR594722,CR600180,CR601302,CR604150,CR605825,CR606102,CR606663,CR610324,CR611230,CR614746,CR616189,CR622271,CR623240,CR626318,M34421,M34481,M38046,M58591,M94890,U25987,X17610,CR619024 NP_002775,AAD21023,EAW57179,EAW57180,EAW57181,EAW57182,EAW57183,EAW57184,AAA63252,AAA78263,AAA78264,AAA78266,AAA78805,AAA18432,AAH05925,AAH20759,CAG28533,AAA52605,AAA74512,AAA63251,AAA60203,AAA60194,AAA75298,CAA35612,Q00887,Q05DN5,Q12810,Q12811,Q13178,Q15225,Q15227,Q15461,Q6LEU7,Q9UMH8,ABM82311,ABM85487 Hs.502092 GDB:128242 PSG11|PSGII protein-coding 1350264 PSIP1 PC4 and SFRS1 interacting protein 1 1580863 12477932,12407101,12181742,12126624,10856157,10721720,10623627,9885563,9822615,17158150,16987986,16959283,17137594,16403635,16075307,15875659,12091904,16291214,12228227,15479846,18036557,17804545,17669426,17451600,17397262,17267486,16959972,16793062,16735438,16439544,16403949,16337983,16311605,16083285,15855167,15797927,15749713,15725483,15501396,15501393,15475359,15371438,15308744,15302935,15163664,12796494,17172465,17083721,16314581,16260736,15895093,15788449 11168 NM_021144,AF199339,AL359998,AL441925,AL513423,CH471071,AF063020,AF098482,AF098483,AF432220,BC013160,BC022971,NM_033222,BC033817,BC040032,BC044568,BC064135,BX649155,CR611837,U94319 NP_150091,NP_066967,AAF25870,AAF25871,CAH71355,CAI13287,EAW58675,EAW58676,EAW58677,EAW58678,EAW58679,AAC25167,AAC97945,AAC97946,AAL99926,AAH22971,AAH33817,AAH44568,AAH64135,AAB52589,O75475,Q05CM9,Q8N4N4 Hs.658434 GDB:9954851 DFS70|LEDGF|MGC74712|PAIP|PSIP2|p52|p75 protein-coding 1347296 PSIP1P PC4 and SFRS1 interacting protein 1 pseudogene 353329 NG_002792,AL592293 pseudo 1312210 PSKH1 protein serine kinase H1 1580863 15489334,14644153,12477932,12466556,11087665,11058107,9889196,8268911,2948189 5681 NM_006742,AC040162,CH471092,AJ272212,BC021584,BC037560,BC062616,CR619744,M14504 NP_006733,EAW83185,CAB91984,AAH62616,AAA36519,P11801 Hs.513683 GDB:204468 protein-coding 1345682 PSKH2 protein serine kinase H2 1580863 15489334,12477932 85481 NM_033126,AC023194,CH471060,AY037806,BC126180,BC126182 NP_149117,EAW91630,AAK59985,AAI26181,AAI26183,Q96QS6 Hs.680136 protein-coding 733996 PSMA1 proteasome (prosome, macropain) subunit, alpha type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. 7681138,15225636,11285280,15029244,12791267,16713569,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10983987,10893419,10799514,10068451,9846577,9811770,9497851,9464850,9451443,9079628,8811196,7811265,2025653,1888762,1660345,1517242,1398136,17353931,10436176 5682 NM_002786,AC018523,AC087207,CH471064,AK290765,BC002577,BC005932,BC008472,BC009576,BC015105,BC015356,BC022372,BT006647,CR597642,CR598938,CR599649,CR599736,CR607412,CR607472,CR610121,CR612800,CR613717,CR617103,CR620774,CR623849,D00759,M64992,X61969,NM_148976 NP_683877,NP_002777,EAW68476,EAW68477,EAW68478,EAW68479,BAF83454,AAH02577,AAH05932,AAH08472,AAH09576,AAH15105,AAH15356,AAH22372,AAP35293,BAA00656,AAA92734,CAA43961,P25786,Q53YE8,ABM85586 Hs.102798 GDB:134040 HC2|MGC14542|MGC14575|MGC14751|MGC1667|MGC21459|MGC22853|MGC23915|NU|PROS30 proteasome (prosome, macropain) subunit, alpha type 1 protein-coding 732886 PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. 1580863 15225636,17353931,11285280,15029244,12791267,16777052,16344560,15592455,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12690205,12477932,12446740,12419264,12167863,10983987,10893419,10436176,9846577,9811770,9373149,9079628,8811196,8635518,8125298,7966316,7811265,7558012,2025653,1888762 5683 NM_002787,AC010132,CH236951,CH471073,D10758,AK222976,AK290654,AU120930,BC002900,BC047697,BX641097,CB990982,CR450317,CR590217,CR597674,CR598541,CR599611,CR606611,CR607875,CR608618,CR616515,CR620562,CR623578,D00760 NP_002778,EAL24005,EAW94151,EAW94152,EAW94153,BAD96696,BAF83343,AAH02900,AAH47697,CAE46046,CAG29313,BAA00657,P25787,Q53GF5,Q6ICS6,Q6MZI6 Hs.333786 GDB:567219 HC3|MU|PMSA2|PSC2 proteasome (prosome, macropain) subunit, alpha type 2 protein-coding 732188 PSMA3 proteasome (prosome, macropain) subunit, alpha type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. 1580863 14667819,15225636,15231747,16169070,11285280,15029244,12791267,16130169,17081983,16964243,16713569,15831937,15592455,15489334,15302935,14702039,14674694,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12379479,12376572,12167863,11350925,11341940,11205743,11146632,10893419,9846577,9811770,9451443,9079628,8811196,8619999,7857283,7811265,2025653,17353931,16189514 5684 NM_152132,AL132989,CH471061,BC005265,BC029402,BC038990,BT006711,BT019715,CR456933,CR607027,CR608468,CR615289,CR619196,CR621171,NM_002788,CR626135,CR626517,D00762 NP_002779,NP_687033,EAW80715,EAW80716,EAW80717,EAW80718,EAW80719,EAW80720,EAW80721,EAW80722,AAH05265,AAH29402,AAH38990,AAP35357,AAV38520,CAG33214,BAA00659,P25788,Q6IB71,ABM83571,ABM86809 Hs.558799 GDB:511352 HC8|MGC12306|MGC32631|PSC3 proteasome (prosome, macropain) subunit, alpha type 3 protein-coding 1346695 PSMA3P proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene 326617 NG_002607,AL163853 pseudo 735266 PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 15146197,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10893419,9846577,15225636,11285280,15029244,12791267,18385676,16964243,15987638,9811770,9079628,8811196,8687380,8619999,8175701,7821789,7811265,2025653,16189514,14743216,15782160 5685 NM_001102668,NM_001102667,AC027228,CH471136,AK055714,AL110100,BC001490,BC005361,BC022445,BC022817,BC030529,BC047667,BC056249,BC093069,BG528289,BG616186,BT009784,BU930105,CD365826,CN337296,NM_002789,CR590522,CR593003,CR598737,CR608152,CR608518,CR610985,CR616802,CR620141,CR620314,D00763,D28362 NP_002780,NP_001096138,NP_001096137,EAW99163,EAW99164,EAW99165,AAH05361,AAH22445,AAH22817,AAH47667,AAH56249,AAH93069,AAP88786,BAA00660,BAA05728,P25789,Q53XP2,Q567Q5,Q7Z474,ABM83465,ABM86676 Hs.251531 GDB:567220 HC9|HsT17706|MGC111191|MGC12467|MGC24813|PSC9 proteasome (prosome, macropain) subunit, alpha type 4 protein-coding 734293 PSMA5 proteasome (prosome, macropain) subunit, alpha type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. 1580863 16251969,11285280,15029244,12791267,16964243,16710414,15489334,15302935,15225636,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11771738,11205743,10893419,10363657,9846577,9811770,9530635,9373149,9079628,8811196,8125298,7811265,1888762,1286667,14499622 5686 NM_002790,AL356735,AL390252,CH471122,AK225990,BC018605,BC102018,BC102019,BC102020,BC103751,BG743267,BT019717,CR456847,CR595573,CR600385,CR600422,CR601200,CR602805,CR603065,CR614020,X61970 NP_002781,CAI13171,EAW56381,EAW56382,EAW56383,AAI02019,AAI02020,AAI02021,AAI03752,AAV38522,CAG33128,CAA43962,P28066,Q5U0A0 Hs.485246 GDB:134041 MGC117302|MGC125802|MGC125803|MGC125804|PSC5|ZETA proteasome (prosome, macropain) subunit, alpha type 5 protein-coding 736338 PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. A pseudogene has been identified on the Y chromosome. 9846577,7681138,15225636,16169070,11285280,15029244,12791267,1888762,18358479,18231128,18158110,18157711,17555133,17535269,17384448,16845397,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11924531,11771738,11205743,10983987,10893419,9811770,9497851,9451443,9079628,9056411,8811196,8618844,7821789,7811265,17353931,10436176,16189514 5687 NM_002791,AF332577,AL121594,AL133163,CH471078,BC002979,BC017882,BC022354,BC023659,BC070137,BG701535,CR456944,CR592479,CR593415,CR593894,CR606392,CR616376,CR616921,D28434,X59417,X61972 NP_002782,AAG61139,EAW65876,EAW65877,AAH02979,AAH17882,AAH22354,AAH23659,AAH70137,CAG33225,BAA05800,CAA42052,CAA43964,P60900,Q9BZ93,ABM83272,ABM86477 Hs.446260 GDB:134042 IOTA|MGC22756|MGC2333|MGC23846|PROS27|p27K proteasome (prosome, macropain) subunit, alpha type 6 protein-coding 1354450 PSMA6P proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 12815422,9847074 64596 NG_002321,AC010877 PSMA6-LIKE pseudo 737158 PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. This particular subunit has been shown to interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. In addition, this subunit is involved in regulating hepatitis virus C internal ribosome entry site (IRES) activity, an activity essential for viral replication. This core alpha subunit is also involved in regulating the hypoxia-inducible factor-1alpha, a transcription factor important for cellular responses to oxygen tension. Multiple isoforms of this subunit arising from alternative splicing may exist but alternative transcripts for only two isoforms have been defined. A pseudogene has been identified on chromosome 9. 1580863 15225636,12719574,12477932,12419264,12167863,11780052,11713272,11389899,11361004,11262608,11205743,11042152,10893419,10748218,10436176,9846577,9811770,9079628,8811196,8764072,7857283,7811265,11285280,15029244,12791267,18202793,17353931,16678104,15987638,15635413,15489334,14759258,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511 5688 NM_002792,AL078633,CH471077,AF022815,AF054185,BC001895,BC004427,BC014999,BI258951,BI906714,BT007165,CR596694,CR600734,CR600945,CR603718,CR611945,CR615593,CR616396,CR618955,CR621598,CR622362,CR624293 NP_002783,CAC04017,CAC04018,CAI18837,CAI18838,EAW75398,AAB81515,AAC99402,AAH04427,AAH14999,AAP35829,O14818,Q05DH1,Q5JXJ1,Q5JXJ2,ABM92206,ABM84680 Hs.233952 GDB:686329 C6|HSPC|MGC3755|RC6-1|XAPC7 proteasome (prosome, macropain) subunit, alpha type 7 protein-coding 1353003 PSMA7P proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene 158441 NG_002333,AL354861 pseudo 1349882 PSMA8 proteasome (prosome, macropain) subunit, alpha type, 8 1580863 16177791,15489334,12477932,12376572 143471 NM_144662,NM_001025096,NM_001025097,AC016839,AC091021,CH471088,BC021713,BC025389,BC025393,BC028371,BC028686,BC042820,BC047355 NP_653263,NP_001020267,NP_001020268,EAX01214,EAX01215,EAX01216,AAH21713,AAH28371,AAH28686,AAH42820,Q4G1B8,Q8TAA3 Hs.464813 MGC26605|PSMA7L protein-coding 1601813 PSMAL growth-inhibiting protein 26 14716746 219595 NM_153696,AP003122,AF261715,AY544126 NP_710163,AAG29102,AAT11157,Q9HBA9,AAI56241,AAI57014 Hs.645352 GCP3 protein-coding 733154 PSMB1 proteasome (prosome, macropain) subunit, beta type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. 1580863 15231747,17353931,11285280,15029244,12791267,15848047,15489334,14702039,14574404,14550573,12525704,8811196,8125298,7966316,7811265,7558012,2306472,2025653,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,14499622,16189514,10436176,12477932,12419264,11205743,10893419,9373149,9079628 5689 NM_002793,AL008628,AL031259,CH471051,D14668,AB209078,AK023290,AK058050,AK223193,BC000508,BC020807,BT019720,CR593995,CR597967,CR599654,CR602488,CR604337,CR611159,CR613544,CR615498,CR617343,CR621157,D00761 NP_002784,CAA20287,EAW47420,EAW47421,EAW47422,EAW47423,BAD92315,BAD96913,AAH00508,AAH20807,AAV38525,BAA00658,P20618,Q53FT8,Q59GN1,ABW03780,ABW03473 Hs.352768 GDB:567221 FLJ25321|HC5|KIAA1838|PMSB1|PSC5 proteasome (prosome, macropain) subunit, beta type 1 protein-coding 1316619 PSMB10 proteasome (prosome, macropain) subunit, beta type, 10 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. 1580863 11285280,8666937,15029244,12791267,17541830,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12519221,12477932,12419264,12417987,12167863,10893419,10329130,9846577,9373149,9079628,8811196,8268911,8125298,15356131,10436176,9811770,9551082 5699 NM_002801,AC040162,CH471092,X71874,AK225658,BC017198,BC052369,BM845639,BT019723,BT019724,CR456982,CR597889,CR607369,CR619398,Y13640 NP_002792,EAW83187,CAA50709,AAH17198,AAH52369,AAV38528,AAV38529,CAG33263,CAA73982,P40306,Q6IB22 Hs.9661 GDB:204060 LMP10|MECL1|MGC1665|beta2i protein-coding 2291820 PSMB11 proteasome (prosome, macropain) subunit, beta type, 11 Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM] 17540904,14702039 122706 NM_001099780,AL132780,AB299437,AK122797 NP_001093250,BAF63540,A5LHX3 Hs.508918 FLJ16369|beta5t protein-coding 732759 PSMB2 proteasome (prosome, macropain) subunit, beta type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. 1580863 11285280,15029244,12791267,16710414,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12456675,12419264,12167863,11205743,10893419,10436176,9846577,9811770,9344661,9079628,8811196,7918633,7811265,1602151,1286667 5690 NM_002794,AL157951,AL354864,AL357035,CH471059,AB209470,AI025755,AV762678,BC000268,BC101836,BC105126,BC107901,BT007137,CR456862,CR599428,D26599 NP_002785,CAI23521,CAC36031,EAX07406,EAX07407,EAX07408,BAD92707,AAI01837,AAI05127,AAI07902,AAP35801,CAG33143,BAA05646,P49721,Q59FJ0,ABM84465,ABM87798 Hs.471441 GDB:567222 HC7-I|MGC104215|MGC126885 proteasome (prosome, macropain) subunit, beta type 2 protein-coding 734194 PSMB3 proteasome (prosome, macropain) subunit, beta type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Pseudogenes have been identified on chromosomes 2 and 12. 1580863 17353931,11285280,15029244,12791267,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10893419,9846577,9811770,9344661,9079628,8811196,7918633,7811265,1286667,10436176,16189514 5691 NM_002795,AC006449,CH471152,BC013008,CR590404,CR607993,D26598 NP_002786,EAW60531,AAH13008,BAA05645,P49720 Hs.82793 GDB:567223 HC10-II|MGC4147 proteasome (prosome, macropain) subunit, beta type 3 protein-coding 1353264 PSMB3P proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 121131 NG_001533,AC009779 pseudo 1626564 PSMB3P2 proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2 9847074 130700 NG_001538,AC073321 pseudo 1344491 PSMB4 proteasome (prosome, macropain) subunit, beta type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. 1580863 11285280,15029244,12791267,16130169,15592455,15489334,15231748,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,12097147,11205743,10893419,10436176,9846577,9811770,9344661,9079628,8811196,8013624,7918633,7811265,2306472,1286667,9344905,16189514 5692 AL589764,CH471121,BC000331,BC008314,BC010088,BC010098,BC011768,BC012168,BC017307,BC017451,BC017486,BT006917,CR456820,CR591973,CR596742,CR600806,CR604816,CR604973,CR611217,CR612779,CR614383,CR616239,CR616885,CR620486,NM_002796,CR621730,D26600,S71381 NP_002787,CAI16806,EAW53442,AAH00331,AAH08314,AAH10088,AAH10098,AAH11768,AAH12168,AAH17307,AAH17451,AAH17486,AAP35563,CAG33101,BAA05647,AAB31085,P28070,Q5SZS5,Q6IBI4,ABM81674,ABM82946,ABM86138 Hs.89545 GDB:373430 HN3|HsN3|PROS26 protein-coding 735704 PSMB5 proteasome (prosome, macropain) subunit, beta type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). 1580863 15231747,17353931,11285280,15029244,12791267,17262013,15944226,15489334,15488952,14743216,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11205743,10893419,10692467,9846577,9811770,9382924,9373149,9079628,8811196,8753855,8125298,8066462,7864893,7820546,7811265,2306472,10436176 5693 NM_002797,AL132780,CH471078,X95586,AK225888,BC057840,BC107720,BT006777,BX248299,BX538001,CR590982,CR595105,CR601158,CR602207,CR618529,CR619337,CR624163,S74378 NP_002788,EAW66193,EAW66194,EAW66195,CAA64838,AAH57840,AAI07721,AAP35423,CAD62626,CAD97956,AAB33092,P28074,Q86T01 Hs.422990 GDB:387365 LMPX|MB1|MGC104214|X proteasome (prosome, macropain) subunit, beta type 5 protein-coding 1349289 PSMB6 proteasome (prosome, macropain) subunit, beta type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 1i (proteasome beta 9 subunit). 1580863 12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12388758,12167863,11205743,10893419,9846577,9811770,9079628,8811196,8066462,7811265,2306472,11285280,15029244,12791267,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,1888762,10436176 5694 AC109333,CH471108,BC000835,BQ691763,BT009809,CR457065,CR605583,CR611559,D29012,X61971,NM_002798 NP_002789,EAW90407,AAH00835,AAP88811,CAG33346,BAA06098,CAA43963,P28072,Q6IAT9,ABM82142,ABM85325 Hs.77060 GDB:134039 DELTA|LMPY|MGC5169|Y protein-coding 732115 PSMB7 proteasome (prosome, macropain) subunit, beta type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon and proteolytic processing is required to generate a mature subunit. This subunit is not present in the immunoproteasome and is replaced by catalytic subunit 2i (proteasome beta 10 subunit). 1580863 11285280,15029244,12791267,15592455,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11295498,11205743,10893419,10384092,9846577,9811770,9373149,9079628,8811196,8666937,8125298,7811265,10436176,16189514 5695 AL137846,CH471090,AJ420455,AK056654,AK098757,AK223007,AK223356,BC000509,BC008414,BC017116,BT007218,CR456721,CR595683,CR597061,CR603700,CR615405,CR618251,NM_002799,CR620261,CR622000,CR626648,D38048 NP_002790,CAI10873,CAI10874,EAW87582,EAW87583,BAD96727,BAD97076,AAH00509,AAH17116,AAP35882,CAG33002,BAA07238,Q5TBG6,Q6IBT1,Q86U62,Q99436 Hs.213470 GDB:686289 Z protein-coding 731895 PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. 1331525,1580863 14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,10436176,15303969,14528300,15231747,11285280,15029244,12791267,18248301,17581627,17525827,17491658,17142736,16423992,16396320,16341674,16338279,16224524,15944226,15907481,15603870,15489334,15488952,14702039,14574404,14551602,14550573,12648225,12519221,12477932,12419264,12225333,12209365,11793848,11772516,11737038,11669176,11494532,11051286,10975991,10926487,10893419,10657252,10329130,9271825,9157092,9079628,8811196,8666937,8568858,8550087,8458375,8344725,7811265,7498531,1922342,1529427,1453454,1429565,15356131,10358150,14614829,14564014,14557625,14528301 1331525 5696 NM_004159,NM_148919,AL669918,AL671681,AL935043,BX682530,BX927138,CH471081,CR753889,CR762476,CT009502,U32862,U32863,X66401,X87344,Z14982,AA807046,AW242683,BC001114,BG547344,BG760674,BM547457,BM781620,CR541661,CR591946,CR595654,CR596244,CR606312,CR621259,CR621302,U17496,U17497,X62598 NP_004150,NP_683720,CAI18138,CAI18139,CAI17712,CAI17713,CAI18623,CAI18624,CAI18625,CAM25945,CAM25946,CAM25947,CAQ08445,CAQ08446,CAQ08448,EAX03644,EAX03645,CAQ10286,CAQ08492,CAQ08493,CAQ08494,CAQ07779,CAQ07780,CAQ07781,AAA80234,AAA80235,CAA47026,CAA60786,CAA60787,CAA78705,CAA78706,AAH01114,CAG46462,AAA56777,AAA56778,CAA44482,P28062,Q5JNW6,Q5QNR8,Q6FHU0 Hs.180062 GDB:132670 D6S216|D6S216E|LMP7|MGC1491|PSMB5i|RING10|beta5i proteosome (prosome, macropain) subunit, beta type 8 protein-coding 737219 PSMB9 proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2) The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding different isoforms have been identified; both isoforms are processed to yield the same mature subunit. 1580863 11285280,15029244,12791267,18248301,17581627,17491658,17142736,16957778,16396320,16224524,16222703,15686587,15603870,15489334,15284441,14574404,14550573,12519221,12477932,12225333,12209365,11819535,11788900,11775239,11772516,11737038,10924276,10329130,9367687,9079628,9003765,8811196,8666937,12648225,8568858,7829535,7811265,1922385,1681432,1529427,1453454,1429565,16703666,16512786,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,10893419,12419264,10436176 5698 X66401,X87344,Z14977,AI310206,BC065513,BF513693,BI832878,BM998687,BX641100,CR541656,CR621193,S75169,U01025,X62741,NM_002800,NM_148954,AL669918,AL671681,AL935043,BX927138,CH471081,CR753889 CAA47024,CAA60784,CAA78700,AAH65513,CAG46457,AAC60646,AAC50154,CAA44603,P28065,Q5JNW4,NP_002791,NP_683756,CAI18141,CAM25486,CAM25487,CAI17715,CAM24981,CAI18627,CAM25803,CAQ08450,CAQ08453,EAX03653,EAX03654,CAQ10289,CAQ10291 Hs.654585 GDB:129006 LMP2|MGC70470|PSMB6i|RING12|beta1i proteosome (prosome, macropain) subunit, beta type 9 protein-coding 734425 PSMC1 proteasome (prosome, macropain) 26S subunit, ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. 1429620,17353931,11285280,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11734547,11361004,10970867,10893419,10748218,10625621,9846577,9811770,9473509,15029244,9452483,9373149,12791267,8811196,16189514,15489334,15358861,15144186,14743216,14702039,14614829,14578856,14564014,14557625,9079628,8125298,6188845 5700 NM_002802,AL161662,AL355074,CH471061,AF401213,AK124201,AK222668,BC000512,BC016368,BC018859,BC067741,BC073818,BT009826,CR457044,CR590391,CR591570,CR592984,CR596533,CR596884,CR599996,CR601231,CR603948,CR606549,CR607057,CR612999,CR614875,CR620708,L02426 NP_002793,EAW81419,EAW81420,EAW81421,BAD96388,AAH00512,AAH16368,AAH67741,AAH73818,AAP88828,CAG33325,AAA35484,P62191,Q53HB3,Q53XL8,Q6NW36,ABM82629,ABM85807 Hs.356654 GDB:136451 MGC24583|MGC8541|P26S4|S4|p56 protease (prosome, macropain) 26s subunit, atpase 1 protein-coding 1348724 PSMC1P proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 151645 NG_001556,AC096922 bcm3415 protease (prosome, macropain) 26s subunit, atpase, 1 pseudogene pseudo 732979 PSMC2 proteasome (prosome, macropain) 26S subunit, ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. 1580863 9295362,17220478,17353931,11285280,15029244,12791267,16130169,16236267,15489334,15340068,15231748,14743216,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12970176,12920286,12914693,12859895,12853948,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12690205,12665801,12477932,12419264,12167863,11361004,11118327,11118325,10893419,10625621,10409732,9846577,9811770,9473509,9079628,8811196,8500623,7711076,1602151,1377363,16189514,8247132 5701 AC004668,AC093701,CH236947,CH471070,AB075520,BC002589,BM754312,CR599744,CR602126,CR605145,CR618659,CR620729,CR624764,NM_002803,D11094 NP_002794,AAS07429,EAL24412,EAW83331,EAW83332,EAW83333,BAE45763,AAH02589,BAA01868,P35998,Q3LIA5,Q75L23,ABZ92232 Hs.437366 GDB:683325 MGC3004|MSS1|Nbla10058|S7 proteasome (prosome, macropain) 26s subunit, atpase 2 protein-coding 732077 PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. 1580863 17220478,17353931,8419915,2194290,11285280,15029244,12791267,8811196,17334400,16713569,15489334,15342556,15221960,14743216,14665636,14614829,14610662,14564014,14557625,14556007,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11463857,10893419,10806355,10799514,10339605,9846577,9811770,9714759,9473509,9373149,9345291,9079628,9048938,8621709,8500623,8323548,8125298 5702 CR619701,CR621417,CR624756,CR625636,M34079,NM_002804,AC090559,CH471064,AK222485,AK291896,BC008713,BC073165,BC106920,BC107804,BP284685,CR456731,CR590202,CR590340,CR591886,CR597773,CR598777,CR598917,CR599967,CR600512,CR602415,CR605143,CR608235,CR608898,CR618622 AAA36666,P17980,ABM83907,ABM87228,NP_002795,EAW67916,BAD96205,BAF84585,AAH08713,AAH73165,AAI06921,AAI07805,CAG33012 Hs.250758 GDB:698258 MGC8487|TBP1 proteasome (prosome, macropain) 26s subunit, atpase 3 protein-coding 730859 PSMC3IP PSMC3 interacting protein 7490091,10806355,16407260,14702039,12477932,11739747,9345291 29893 AB030304,AF440240,AK126369,BC008792,CR594795,CR625144,U18921,NM_016556,NM_013290,AC067852,CH471152 BAA92872,AAL33609,AAH08792,Q9P2W1,NP_057640,NP_037422,EAW60846,EAW60847,EAW60848,EAW60849,EAW60850 Hs.706821 GT198|HOP2|TBPIP protein-coding 1352639 PSMC3P proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene 9048938 5703 NG_002368,AL356000 GDB:6268339 pseudo 731556 PSMC4 proteasome (prosome, macropain) 26S subunit, ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with an orphan member of the nuclear hormone receptor superfamily highly expressed in liver, and with gankyrin, a liver oncoprotein. Two transcript variants encoding different isoforms have been identified. 1580863 9473509,17353931,11285280,15029244,12791267,8603043,17327361,16189514,15489334,15057824,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11779854,11463857,11361004,11042152,10893419,9846577,9811770,9714759,9079628,8500623,8419915,8323548,8076819,8060531,2194290 5704 NM_006503,NM_153001,AC007842,CH471126,AF020736,AF038965,AK290285,BC000343,BC010396,BC014488,BC018811,BT007232,CR591096,CR594223,CR597394,CR602157,CR603370,CR604327,CR606858,CR607304,CR611800,CR616731,CR619473,CR621309,CR622224,CR624681,CR624768,U27515 NP_006494,NP_694546,AAD39267,EAW56928,EAW56929,AAC32612,AAC26843,BAF82974,AAH00343,AAH10396,AAH14488,AAP35896,ABM85802,ABM82801,AAC99817,P43686 Hs.211594 GDB:698259 MGC13687|MGC23214|MGC8570|MIP224|S6|TBP7 protein-coding 732741 PSMC5 proteasome (prosome, macropain) 26S subunit, ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. 14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,12110588,11463857,10970867,10893419,10816420,10799514,10409732,9846577,9811770,9714759,9473509,9295362,9173976,9110174,9464850,7870181,11285280,16432160,15029244,12791267,9927201,17565987,17302910,16713569,16499872,16189514,15489334,14702340,14702039,14614829,14564014,14557625,9079628,9048938,8811196,8710853,8619474,8598193,8500623,8419915,8323548,7776974,7729537,2194290,12692129,17353931 5705 AC015651,CH471109,AF035309,AI193169,AK095836,AK098484,AK290758,AK291878,BC001932,BC002367,BC127888,BF245599,CR594383,CR595677,CR604202,CR606458,CR608855,CR610576,CR613856,CR614294,CR619795,CR621341,CR623587,CR626071,D44467,L38810,NM_002805 NP_002796,EAW94269,EAW94270,EAW94271,EAW94272,AAB88187,BAF83447,BAF84567,AAH01932,AAH02367,BAA07919,AAC41735,P62195,ABM83122,ABM86317 Hs.79387 GDB:581712 S8|SUG1|TBP10|TRIP1|p45|p45/SUG for proteasomal atpase (sug1) protein-coding 1318819 PSMC6 proteasome (prosome, macropain) 26S subunit, ATPase, 6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. 12719574,12499840,12477932,12419264,12167863,10893419,10363644,9846577,9811770,9473509,9079628,8811196,8674546,8621709,17353931,14615539,9464850,11590019,11285280,15029244,12791267,10419517,16501559,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511 5706 AA846884,AF006305,AK127456,BC005390,BT006843,CR456709,CR590720,CR595318,CR597261,CR602871,CR608774,CR611308,CR615895,CR617697,CR621047,CR622035,CR623246,NM_002806,AL133453,CH471078,CQ840920,CR624028,D78275 CAH05701,AAB61616,AAH05390,AAP35489,CAG32990,NP_002797,EAW65645,BAA11338,P62333,ABM84630 Hs.156171 GDB:702106 CADP44|MGC12520|P44|SUG2|p42 protein-coding 1343106 PSMC6P proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene 15262430 266723 NG_002379,AC046176 pseudo 2291756 PSMC6P2 proteasome 26S subunit, ATPase, 6 pseudogene 2 160410 NG_001564,AC008033 pseudo 2293178 PSMC6P3 proteasome 26S subunit, ATPase, 6 pseudogene 3 100128218 NG_007662,AC139783 pseudo 734088 PSMD1 proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. 1580863 17353931,11285280,15029244,12791267,8811196,8816993,16964243,16737963,16501559,16097034,15815621,15489334,15302935,15231748,14743216,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,10893419,10671488,9846577,9811770,9079628 5707 AC009407,CH471063,BC001053,NM_002807,BC007535,BC014013,BC020223,BC032445,BC039845,BC047897,BC064398,BC073833,BC094720,BC112344,BC114434,CR593284,CR620040,D44466 NP_002798,AAX93127,EAW70947,EAW70948,AAH01053,AAH14013,AAH20223,AAH32445,AAH39845,AAH47897,AAH64398,AAH73833,AAH94720,AAI12345,AAI14435,BAA07918,Q05BX4,Q05CW6,Q99460 Hs.3887 GDB:696270 MGC133040|MGC133041|P112|Rpn2|S1 26s proteasome, subunit p112 protein-coding 736379 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20. 1580863 18040287,17935131,17904523,17881001,15910504,15772651,15489334,15379554,15221469,14997555,14614829,14573599,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12174370,12167863,11779854,10893419,9846577,9811770,9079628,9009162,16189514,16023600,12525503,17353931,11285280,15029244,12791267,8811196,9714768,18161051 5716 NM_170750,AL031177,CH471120,AB009619,AK058108,AY057056,BC011960,BQ217943,BT019689,CR598807,NM_002814,CR602434,CR606287,CR609521,CR610422,CR622885,D83197 NP_002805,NP_736606,CAA20117,CAI43131,CAI43132,CAI43133,CAI43134,CAI43135,EAX02697,EAX02698,BAA33215,AAL25260,AAH11960,AAV38495,BAA34594,O75832,Q5JYY4,Q5U0B2,Q8IZK9 Hs.522752 GDB:5885793 dJ889N15.2|p28 protein-coding 1343089 PSMD10P1 proteasome 26S subunit, non-ATPase, 10 pseudogene 1 170541 NG_001050,AL034553 GDB:11507544 PSMD10P|dJ914P20.4 pseudo 2290507 PSMD10P2 proteasome 26S subunit, non-ATPase, 10 pseudogene 2 280644 NG_002417,AC112907 pseudo 2291755 PSMD10P3 proteasome 26S subunit, non-ATPase, 10 pseudogene 3 338091 NG_002627,AL354720 pseudo 1315074 PSMD11 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. 1580863 17353931,11285280,15029244,12791267,9119060,17081983,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12665801,12477932,12419264,12185077,12167863,10893419,9846577,9811770,9426256,9373149,9079628,8811196,8125298,1317798 5717 NM_002815,AC005899,AC079336,CH471147,AB003102,AF001212,AK093602,AK223196,AK290602,BC000437,BC004430,CR590971,CR597146,CR600771,CR611950,CR621748 NP_002806,EAW80229,EAW80230,BAA19748,AAB58732,BAD96916,BAF83291,AAH00437,AAH04430,O00231,Q53FT5 Hs.655396 GDB:5885794 MGC3844|Rpn6|S9|p44.5 protein-coding 1348717 PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. 1580863 17353931,11285280,15029244,12791267,9426256,16501559,15489334,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12665801,12477932,12419264,12167863,10893419,9846577,9811770,9373149,9079628,8811196,8125298,1317798 5718 NM_002816,AC110921,CH471099,AB003103,AK091198,AK222679,BC019062,BC065826,CR603290,CR621959 NP_002807,EAW89026,EAW89027,EAW89028,EAW89029,BAA19749,BAD96399,AAH19062,AAH65826,O00232,ABM83747,ABM87066 Hs.646575 GDB:5885795 MGC75406|Rpn5|p55 protein-coding 2291786 PSMD12P proteasome 26S subunit, non-ATPase, 12 pseudogene 317753 NG_002463,AC114876 pseudo 1313146 PSMD13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. 1580863 17353931,11285280,15029244,12791267,8811196,9714768,17059877,16501559,15489334,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11042152,10893419,10393949,10225435,9846577,9811770,9373149,9079628,8125298 5719 NM_175932,AC136475,AF261927,CH471278,AA931044,AB009398,NM_002817,AF083245,AF086708,AF107836,AF107837,AK092845,AK094775,AK222895,AL556906,BC001100,BC001747,BM456586,BT007307,BX647314,CR590692,CR593555,CR593850,CR594050,CR594908,CR597589,CR598910,CR600680,CR601204,CR603732,CR604346,CR604655,CR610599,CR612824,CR614879,CR615813,CR616657,CR618920 NP_787128,EAW61234,EAW61235,EAW61236,EAW61237,EAW61238,NP_002808,BAA33214,AAD39843,AAC64104,AAD43441,AAD43442,BAD96615,AAH01100,AAH01747,AAP35971,CAI46009,Q53GN6,Q53XU2,Q5HYL3,Q9UNM6,Q9UNM7,Q9Y6E3,ABM83097,ABM86291 Hs.134688 GDB:5885796 HSPC027|Rpn9|S11|p40.5 protein-coding 1315018 PSMD14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 PSMD14 is a component of the 26S proteasome, a multiprotein complex that degrades proteins targeted for destruction by the ubiquitin pathway (Spataro et al., 1997 [PubMed 9374539]).[supplied by OMIM] 1580863 17353931,11285280,15029244,12791267,9374539,17237285,16569633,15592455,15489334,14737182,14702039,12477932 10213 NM_005805,AC009299,AC009487,CH471058,AB209220,AK055128,BC009524,BC066336,CR595585,CR606475,CR615752,CR617325,U86782 NP_005796,AAX88940,AAY15016,EAX11370,BAD92457,AAH09524,AAH66336,AAC51866,O00487,Q4ZG77,Q53TH1,Q59G89,Q96DE8 Hs.567410 PAD1|POH1|rpn11 protein-coding 1350425 PSMD15 proteasome (prosome, macropain) 26S subunit, non-ATPase, 15 10830953 54035 NG_002723,AP000695,AP001726 PSMD4P pseudo 1313972 PSMD2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. 1580863 11278995,11285280,15029244,12791267,8811196,8774743,17081983,16189514,16169070,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12692129,12477932,12419264,12167863,10893419,10625621,9846577,9811770,9126987,9079628,7639698,7601280,17353931 5708 NM_002808,AC078797,CH471052,AB209843,AK095245,AL162014,BC002368,BC002997,BC007897,BT009736,CR600526,CR604292,CR620212,D78151,U12596,U18247,X86446 NP_002799,EAW78270,EAW78271,EAW78272,BAD93080,CAB82366,AAH02368,AAH02997,AAH07897,AAP88738,BAA11226,AAA87705,AAA57339,CAA60167,Q13041,Q13200,Q53XQ4,Q59EG8,Q9NSM5 Hs.518464 GDB:696271 MGC14274|P97|Rpn1|S2|TRAP2 protein-coding 1322945 PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. 1580863 12791267,8811196,15489334,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,10893419,9846577,9811770,9079628,9017604,17353931,11285280,15029244 5709 NM_002809,AC090844,CH471152,AF091075,AK022896,AK054611,AK055358,AK055799,AK094206,BC000074,BC004859,BC012302,BC020518,BT007217,CR456772,CR603532,CR611998,D67025,BC025686 NP_002800,EAW60625,AAC72944,BAB71019,BAC04310,AAH00074,AAH04859,AAH12302,AAH20518,AAH25686,AAP35881,CAG33053,BAA23651,O43242,O95325,Q6IBN0,Q8N9M2,Q96N86 Hs.12970 GDB:696272 P58|RPN3|S3 protein-coding 734297 PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. 17353931,17662948,11285280,15029244,12791267,8811196,17949686,17459097,17408689,16762342,16710414,16189514,15826667,15489334,15345747,15340068,14759258,14614829,14585839,14564014,14557625,14557549,14550573,14528301,14528300,14527406,12970355,12970176,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11827521,11585840,11146632,10921894,10893419,10799514,10505793,10488153,9846577,9811770,9488668,9235903,9079628,8641424,7657640,3524692,14743216 5710 NM_002810,AL391069,AL592424,CH471121,AB033605,BC002365,BC072008,CR595476,CR608712,CR609650,CR611554,CR616606,CR618635,CR622014,CR626776,U24704,U72664 NP_002801,CAH70329,CAH70330,CAI16389,CAI16390,CAO72046,CAO72047,EAW53455,EAW53456,EAW53457,EAW53458,BAA97581,AAH02365,AAH72008,AAB54057,AAB68598,P55036,Q5VWC4 Hs.505059 GDB:696273 AF|AF-1|ASF|MCB1|Rpn10|S5A|pUB-R5 proteasome (prosome, macropain) 26s subunit, non-atpase,4 protein-coding 1318199 PSMD5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator base. 1580863 11285280,15029244,12791267,8811196,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12665801,12477932,12419264,12167863,10893419,10625621,9846577,9811770,9079628,8125911,7584044,7559544,1317798,16189514 5711 NM_005047,AL161911,CH471090,AK001065,AK026925,AK291051,BC014478,BM835267,D31889,S79862 NP_005038,CAI95117,CAI95118,EAW87471,BAF83740,AAH14478,BAA06687,AAB35397,Q16401,Q4VXG8,ABM83011,ABM86205 Hs.193725 GDB:696237 KIAA0072|MGC23145|S5B protein-coding 1351950 PSMD6 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 10723133,17353931,11285280,15029244,12791267,15489334,14743216,14702039,12477932,7788527,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,10893419,9079628,12419264,14550573,12692129 9861 NM_014814,AC012557,CH471055,AF215935,AF530062,AK055210,AK095059,AK290205,AL832109,AY359879,AY568086,BC000630,BC000904,BC012369,BX647742,CR591251,CR591399,CR591954,CR593438,CR602355,CR606536,CR609059,CR614166,D14663 NP_055629,EAW65424,EAW65425,EAW65426,EAW65427,AAF65540,AAQ09946,BAF82894,AAQ63402,AAS68366,AAH00630,AAH00904,AAH12369,BAA03497,Q15008,Q6UV22 Hs.152536 GDB:698257 KIAA0107|Rpn7|S10|SGA-113M|p44S10 protein-coding 1315780 PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. 1580863 17353931,11285280,15029244,12791267,7755639,17559875,17028202,16842755,16396496,15489334,15383276,15221960,14743216,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12944474,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,8811196,12750511,12719574,12477932,12419264,12368243,12237292,12167863,10893419,9846577,9811770,9520381,9079628,6188845,2209467,16189514 5713 NM_002811,AC009120,CH471166,BC000338,BC012606,BM989341,BU601564,CR595724,CR597005,CR599542,CR600117,CR601507,CR616820,CR620737,D50063 NP_002802,EAW59162,EAW59163,AAH00338,AAH12606,BAA08780,P51665 Hs.440604 GDB:127564 MOV34|P40|Rpn8|S12 protein-coding 1350935 PSMD7L proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 like 280637 NG_002412,AC006120 GDB:128694 MOV34L pseudo 1320403 PSMD8 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. 1580863 14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12477932,12419264,12167863,11163772,10893419,9846577,9811770,9079628,16189514,14743216,17353931,11285280,15029244,12791267,8811196,7621825,16885229,15489334,15342556,15231748,15057824,14614829,14564014,14557625,14550573,14528301,14528300 5714 NM_002812,AC005789,CH471126,BC001164,BC065006,BC071826,BI560993,BP369299,BQ684248,BT019688,CR590029,CR590093,CR595613,CR595906,CR606879,CR618879,D38047 NP_002803,AAC62833,EAW56785,AAH01164,AAH65006,AAV38494,BAA07237,P48556,Q5U0B3,Q6P1L7 Hs.78466 GDB:5885790 HIP6|HYPF|MGC1660|Nin1p|Rpn12|S14|p31 protein-coding 737461 PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. 1580863 10567574,11285280,16099819,15029244,16293776,12791267,9653651,17516568,17360176,16189514,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12778072,12750511,12719574,12477932,12419264,12167863,11940657,10893419,10799514,9846577,9811770,9079628,8811196 5715 AC069503,NM_002813,CH471054,CQ840923,AK055339,BC002383,BC004184,BC004213,BI832046,BU956605,CR624376 NP_002804,EAW98293,EAW98294,EAW98295,EAW98296,EAW98297,CAH05702,AAH02383,AAH04184,AAH04213,O00233,ABM84520 Hs.131151 GDB:5885791 MGC8644|Rpn4|p27 protein-coding 733032 PSME1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Two transcripts encoding different isoforms have been identified. 1580863 8811196,12791267,17939699,16130169,17719568,17671684,16169070,15489334,14760793,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12519221,12477932,12419264,12200048,12167863,10893419,10799514,10199920,9846577,9811770,9590240,9403698,9394799,9385652,9344661,9287111,9079628,8889548,8663520,8269930,8051173,7789512,11285280,15029244,1286667,12755701,16189514 5720 NM_176783,NM_006263,AB007137,AF078829,AL136295,CH471078,U10360,BC000352,BC007503,BT019337,BU731923,BX248293,CR456780,CR541658,CR593193,CR594470,CR614004,CR622317,DQ185047,L07633 NP_788955,NP_006254,BAA28836,AAF02217,EAW66105,EAW66106,AAA53230,AAH00352,AAH07503,AAV38144,CAD62621,CAG33061,CAG46459,AAA16521,Q06323,Q6FHU3,Q6IBM2,Q86SZ9,ABM82764,ABM85950 Hs.75348 GDB:303967 IFI5111|MGC8628|PA28A|PA28alpha|REGalpha protease (prosome, macropain) 28 subunit, alpha protein-coding 733724 PSME2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. 69948,1580863 11285280,15029244,12791267,8811196,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12519221,12477932,12419264,12200048,12167863,10893419,10799514,10199920,9846577,9840465,9811770,9620878,9373149,9344661,9079628,8663520,8125298,7989312,7789512,1429590 69948 5721 NM_002818,AF079558,AL136295,CH471078,AK026580,AK225876,AY771595,BC004368,BC019885,BC072025,BX161498,CR541657,CR541743,CR594185,CR600073,CR601043,CR615548,CR618033,CR620148,D45248 NP_002809,AAF02218,EAW66100,EAW66101,AAX11425,AAH04368,AAH19885,AAH72025,CAD61943,CAG46458,CAG46543,BAA08205,Q2TNB3,Q6FHK9,Q86SZ7,Q9UL46,ABM84330,ABM87721 Hs.434081,Hs.512410 GDB:5881072 PA28B|PA28beta|REGbeta protease (prosome, macropain) 28 subunit, beta protein-coding 1351981 PSME2P1 proteasome activator subunit 2 pseudogene 1 257093 NG_002626,AC116347,AC134821 PSME2P pseudo 2290518 PSME2P2 proteasome activator subunit 2 pseudogene 2 338099 NG_002632,AL139182 pseudo 2290520 PSME2P3 proteasome activator subunit 2 pseudogene 3 9847074 338095 NG_002628,AC093700 pseudo 2291754 PSME2P4 proteasome activator subunit 2 pseudogene 4 9847074 338096 NG_002629,AC021106 pseudo 2291753 PSME2P5 proteasome activator subunit 2 pseudogene 5 338097 NG_002630,AC015743 pseudo 2291752 PSME2P6 proteasome activator subunit 2 pseudogene 6 338098 NG_002631,AL157831 pseudo 1315927 PSME3 proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Two transcript variants encoding different isoforms have been identified. 16169070,11285280,15029244,12791267,8811196,18309296,17088425,16713569,16303743,16189514,15489334,14702039,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,9846577,9840465,9811770,9590240,9403698,9344661,9218537,9079628,7951316,7675458,7545954,1968796,17353931,12784391,12750511,12719574,12477932,12419264,12167863,11859414,10893419 10197 NM_176863,NM_005789,AC016889,CH471152,CQ782983,CR610201,CR616858,CR622935,U11292,U25756,AK057221,AK074999,AK292618,BC001423,BC002684,BC008020,BG708969,BQ005550,BT019386,BX640801,CR541745,CR592701,CR596217 NP_789839,NP_005780,EAW60891,EAW60892,EAW60893,EAW60894,AAB60335,P61289,Q6FHK7,Q6MZZ1,ABM82856,ABM86043,AAA93227,BAF85307,AAH01423,AAH02684,AAH08020,AAV38193,CAE45884,CAG46545,CAF86206 Hs.152978 GDB:9955379 Ki|PA28-gamma|PA28G|REG-GAMMA protein-coding 1345096 PSME4 proteasome (prosome, macropain) activator subunit 4 1302306 17523843,16344560,15489334,12477932,12093752,7584044,14614829,14564014,14557625,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808466,12808465,12750511,12719574,12167863,9846577,9811770,10893419,9079628,14550573,12419264 1302306 23198 NM_014614,AC008068,CH471053,AA884260,AK025517,AK026085,AK124923,AL045471,AL599601,AU117034,AY894754,AY894755,AY894756,BC017090,BC032418,BC043602,BC062760,BC071768,BC112169,BC113668,BQ898809,BU569553,CR601796,D38521 NP_055429,EAX00161,BAC85996,AAX83869,AAX83870,AAX83871,AAH43602,AAH71768,AAI12170,AAI13669,BAA07526,Q14997,Q6ZV67 Hs.413801 FLJ21864|KIAA0077|MGC138374|MGC142228|PA200 protein-coding 1345633 PSMF1 proteasome (prosome, macropain) inhibitor subunit 1 (PI31) The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. 1580863 10764772,16713569,11285280,15029244,12791267,16344560,16189514,15489334,14614829,14564014,14557625,14550573,14528301,14528300,14527406,12970355,12920286,12914693,12859895,12840737,12830140,12809610,12808465,12750511,12719574,12477932,12419264,12374861,12167863,11780052,10893419,10363639,9846577,9811770,9110174,9079628,8619474,16146763,16046164,16035254,15638724,15183343,15139295,12808466 9491 NM_178578,NM_006814,AL031665,CH471133,AA885338,AF055032,AK098612,BC029836,BC126127,BC126462,BI461198,BI830805,CR592856,CR600493,D88378,DA949012,DB028624 NP_848693,NP_006805,CAC10383,CAI21752,CAI21754,CAI21757,EAX10649,EAX10650,EAX10651,AAI26463,BAA13603,Q5QPM4,Q5QPM5,Q5QPM6,Q5QPM7,Q5QPM8,Q5QPM9,Q92530 Hs.471917 GDB:9956854 PI31 protein-coding 1313491 PSMG1 proteasome (prosome, macropain) assembly chaperone 1 1580863 16251969,15670775,15590417,17189198,15489334,14702039,12477932,10872820,10830953,9784380 8624 AF129408,AL163279,CH471079,NM_203433,NM_003720,AF417108,AJ006291,AK001455,AY463963,BC003619,BC010424,BC011755,BC012809,BM013494,BM460414,BM476420,BQ008489,BR000236,CB160221,CR541821,CR541852,CR605754,CR605957,CR622115,CR624273 CAB90451,EAX09664,EAX09665,NP_982257,NP_003711,EAX09666,CAA06957,AAR25628,AAH03619,AAH10424,AAH11755,AAH12809,FAA00022,CAG46620,CAG46650,O95456,ABM83237,ABM86437 Hs.473838 GDB:9956047 C21LRP|DSCR2|LRPC21|PAC1 protein-coding 1312554 PSMG2 proteasome (prosome, macropain) assembly chaperone 2 1580863 16251969,18174230,17189198,14702039,12477932,12147697,11854909,9373149,8125298 56984 NM_020232,AP005482,CH471113,AF068295,AF161378,AF168712,AF276707,AK025410,AK057005,AK225882,BC013356,BR000237,CR457181,CR592839,CR596477,CR599075,CR604508,CR604839,CR617853 NP_064617,EAX01541,EAX01542,AAF65184,AAF28938,AAF87314,AAK69439,AAH13356,FAA00023,CAG33462,EAX01540,Q969U7,Q9NRV1,Q9P0C1,Q9P1R6 Hs.464652 CLAST3|HCCA3|HsT1707|MDS003|MGC15092|PAC2|TNFSF5IP1 protein-coding 1601948 PSMG3 proteasome (prosome, macropain) assembly chaperone 3 17189198,15489334,12853948,12690205,12477932 84262 NM_032302,AC093734,CH236953,CH471144,BC004308,BC027171,BR000337,CR615571 NP_115678,AAP21867,EAL23945,EAW87212,EAW87213,AAH04308,AAH27171,FAA00325,Q9BT73 Hs.446311 C7orf48|MGC10911|PAC3 protein-coding 1347146 PSMG4 proteasome (prosome, macropain) assembly chaperone 4 15790681,17707236,14702039 389362 XR_017905,XR_017743,XR_041314,AL445309,CH471087,AK092793,AK095683,AK096219,AK125314,AK126623,AL389983,BX648600,AK096543 CAI40954,CAI40955,CAI40956,CAI40957,EAW55137,BAC04606,Q5JS54,Q8N8T5,Q8N950,BAC04728 Hs.207069,Hs.664539,Hs.671794,Hs.700628 C6orf86|PAC4|bA506K6.2 protein-coding 1346105 PSORS1 psoriasis susceptibility 1 9158158 5674 GDB:6381310 1343678 PSORS1C1 psoriasis susceptibility 1 candidate 1 16029332,15708881,15301859,12930300,12477932,10545595 170679 NM_014068,AB088114,AB202103,AL662844,AL662867,AL773544,BA000025,CH471081,CR759815,CR938714,AB031479,AF484418,AF484419,BC104870 NP_054787,BAC54950,BAE78626,CAI18324,CAI17720,CAI18480,BAB63314,EAX03357,CAQ07079,CAQ08650,BAA88130,AAO49375,AAO49376,AAI04871,Q2L6G9,Q2M3K9,Q5SQ84,Q5ST21,Q9UIG5 Hs.310958 GDB:11503494 C6orf16|MGC132530|SEEK1 protein-coding 1349813 PSORS1C2 psoriasis susceptibility 1 candidate 2 15523160,12930300,12823445,10545595,8999895 170680 NM_014069,AB088114,AB202103,AL662844,AL662867,AL773544,AP000510,CH471081,AB031480,AF484420 NP_054788,BAC54949,BAE78627,CAI18325,CAI17721,CAI18481,BAB63315,EAX03359,BAA88131,AAO49377,Q5SQ83,Q5STD0,Q9UIG4 Hs.146824 GDB:11503495 C6orf17|SPR1 protein-coding 1353176 PSORS1C3 psoriasis susceptibility 1 candidate 3 170681 GDB:11503496 1342831 PSORS2 psoriasis susceptibility 2 8178173 5722 GDB:366648 1352840 PSORS3 psoriasis susceptibility 3 8841203 7889 GDB:9864978 1349574 PSORS4 psoriasis susceptibility 4 9886260,11348461 10547 GDB:9957622 1344041 PSORS5 psoriasis susceptibility 5 737840 10573011 737840 63870 GDB:9993303 1350897 PSORS7 psoriasis susceptibility 7 94006 GDB:11503492 1354250 PSORS8 psoriasis susceptibility 8 9259283 140454 GDB:11503493 1320843 PSPC1 paraspeckle component 1 1580863 16344560,16148043,15635413,15342556,14702039,12477932,11790299,12810069 55269 NR_003272,NM_001042414,AL354808,CH471075,AF448795,AF449627,AK001817,AL834505,BC014184,BP225439,BQ685330,CB214993,CR457272,CX759783,DA644474 NP_001035879,CAI41004,CAI41005,EAX08232,EAX08233,EAX08234,AAL59601,AAL59602,BAA91924,CAD39162,AAH14184,CAG33553,Q8WXF1,ABM83605,ABM86848 Hs.213198 DKFZp566B1447|FLJ10955|PSP1 protein-coding 1318726 PSPH phosphoserine phosphatase The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. 1580863 9188776,17353931,15489334,15291819,14702039,14673469,12477932,12213811,11752790,10567362,9603909,9373149,9222972,8125298,6297855,6297854,6249179,2851960,1965857,1964582 5723 NM_004577,AC092579,CH471140,AK054677,AK126156,AK223508,AW574794,BC052958,BC063614,BX537439,CR592060,CR623342,CR625244 NP_004568,EAX07968,EAX07969,EAX07970,EAX07971,BAC86464,BAD97228,AAH63614,CAD97681,P78330,Q53EY1,Q6ZTW5 Hs.512656 GDB:120322 PSP protein-coding 1345700 PSPHL phosphoserine phosphatase-like CO9 is significantly upregulated in Fanconi's anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. CO9 is also highly expressed in FA B-cells of complementation group A. 1580863 9573387,12477932 8781 XM_926720,XM_935774,AC091812,AJ001612,BC065228 XP_931813,XP_940867,CAA04865,O15172 Hs.536913 GDB:9956920 CO9 protein-coding 736997 PSPN persephin The protein encoded by this gene is a neurotrophic factor, belonging to the GDNF family. Neurotrophic factors are important for the proper development and maintenance of the nervous system. These factors promote neuronal survival and can prevent the neuronal degeneration associated with injury, toxin exposure, or neurodegenerative disease. The encoded protein has amino acid similarity to its other family members, glial cell line-derived neurotrophic factor and neurturin. This gene product promotes the survival of ventral midbrain dopaminergic neurons in culture and prevents their degeneration after 6-hydroxydopamine treatment in vivo. 1580863 9491986,15829225,15225646,14702039,11116144,10380959,10072588,9740802 5623 NM_004158,AC011491,CH471139,AF040962,AK055490 NP_004149,EAW69100,EAW69101,AAC39640,O60542,AAI52718,AAI56564 Hs.248159 GDB:7171008 PSP protein-coding 1606488 PSRC1 proline/serine-rich coiled-coil 1 This gene encodes a proline-rich protein. Studies of the related mouse gene suggest that this gene is regulated by p53 and may participate in p53-mediated growth suppression. Alternatively spliced transcript variants encoding different isoforms have been described. 12427559,18411309,18291097,18193044,18179892,16964243,16710414,15498874,15489334,14702039,12477932,10618717 84722 NM_001032290,NM_001032291,NM_001005290,NM_032636,AF322891,AL390252,CH471122,AF223000,AF447874,AK126567,AK289593,BC056909,BE206101,BF984061,BQ448200,BX649139,CR590786,CR590881,CR596962,CR598811,CR616373,CR617198,CR623580,CR624502,CR625810 NP_001027461,NP_001027462,NP_001005290,NP_116025,AAN73434,CAI13172,CAI13173,CAI13174,CAI13175,CAI13176,CAI13177,CAI13178,EAW56373,EAW56374,EAW56375,EAW56376,EAW56377,AAN73431,AAQ04649,BAC86599,BAF82282,AAH56909,Q5T2Y9,Q5T2Z0,Q5T2Z1,Q5T2Z2,Q5T2Z3,Q6PGN9 Hs.405925 DDA3|FP3214|MGC1780|RP11-297O4.2 protein-coding 1350761 PSTK phosphoseryl-tRNA kinase 737633 15489334,15317934,14702039,12477932 737633 118672 CH471066,AK094271,AK127173,BC035344,CR618124,NM_153336,AC073585 EAW49295,EAW49296,BAC86867,AAH35344,Q8IV42,NP_699167 Hs.281004 C10orf89|MGC35392 protein-coding 1316821 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 The protein encoded by this gene binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, negatively affecting CD2-triggered T cell activation. The encoded protein appears to be a scaffold protein and a regulator of the actin cytoskeleton. It has also been shown to bind ABL1, PTPN18, WAS, CD2AP, and PTPN12. Mutations in this gene are a cause of PAPA syndrome. 1580863 17353931,9857189,17964261,17213252,16670297,16344560,16204241,15489334,14595024,12530983,12477932,11971877,11711533,11163214,9804817,9488710,9422760,9265651,16189514,11313252 9051 NM_003978,NG_007526,AC090181,CH471136,AF038602,AF038603,AL110110,BC008602,CR593209,CR610262,DB123759,U94778 NP_003969,EAW99213,EAW99214,EAW99215,AAD11958,AAD11959,AAH08602,AAD00762,O43586,ABM82705,ABM85889 Hs.129758 GDB:9954811 CD2BP1|CD2BP1L|CD2BP1S|H-PIP|PAPAS|PSTPIP protein-coding 1352589 PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 16344560,15862967,15489334,15342556,14702039,12477932,9804836,9804817,8889549,16189514 9050 NM_024430,AC012569,AC090355,CH471088,AK023100,BC026223,BC035395,BP352927,DA943980 NP_077748,EAX01466,EAX01467,BAB14404,AAH35395,Q9H939,ABM84125,ABM84126,ABM84127,ABM84621,ABM87526,ABM87527,ABM87528 Hs.567384 GDB:9954810 MAYP|MGC34175 protein-coding 733075 PTAFR platelet-activating factor receptor PTAFR shows structural characteristics of the rhodopsin (MIM 180380) gene family and binds platelet-activating factor (PAF). PAF is a phospholipid (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) that has been implicated as a mediator in diverse pathologic processes, such as allergy, asthma, septic shock, arterial thrombosis, and inflammatory processes.[supplied by OMIM] 1581279,1580863 1656963,1657923,1281995,10601267,8892648,16793019,16306050,16115894,15748960,15489334,15160913,15149885,15115767,14617636,14500726,14500680,12756251,12713583,12601006,12477932,12467527,11928813,11861812,11729201,11297424,10395919,10391209,9657523,9037196,8395240,8387031,8383507,7848283,7566121,6325330,3010668,1322356,1312046,1374385,8978777,8168510,18187960,17928889,16984258,16837045 1581279 5724 NM_000952,AL137792,AL353354,CH471059,M88177,S56396,AK290240,AK292053,AY275466,BC013816,BC063000,BT009801,CR600205,CR621278,D10202,D31736,L07334,M76674,M80436,S52624 NP_000943,EAX07711,AAA60214,AAB25755,BAF82929,BAF84742,AAP32298,AAH13816,AAH63000,AAP88803,BAA01050,BAA06537,AAA60108,AAA60002,AAA60001,AAB24695,P25105,ABM82642,ABM85819 Hs.433540 GDB:128806 PAFR protein-coding 1313649 PTAR1 protein prenyltransferase alpha subunit repeat containing 1 737633 16341674,12477932 737633 375743 NM_001099666,BM785278,AL162412,CH471089,AI937926,AK127511,AL832683,BC053622 NP_001093136,Q7Z6K3,CAI10944,CAI10945,EAW62489,AAH53622 Hs.705607 FLJ45604 protein-coding 732339 PTBP1 polypyrimidine tract binding protein 1 This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 1906036,10653975,16373488,16713569,12226669,1641332,18216120,18193060,17936301,17592047,17507659,17497933,16885029,16765895,16362043,16314454,16282332,16189514,16179478,16169070,15767428,15669107,15635413,15489334,15341728,15169918,15057824,15039777,11003644,10856256,10772858,9563502,9512476,9166399,8883365,8626763,8449401,11060040,11024286,7558043,1906035,1286667,12033793,14769134,12851456,12667457,12581738,12527772,12517964,12509450,12477932,12449425,12388589,12213192,12004072,11788707,11781313,11739782,11724819,11602719 5725 CR591811,CR592314,CR593709,CR594496,CR594543,CR594950,CR596008,CR602261,CR603046,CR605589,CR607067,CR607326,CR610714,CR613533,CR616729,CR617988,CR620338,CR621295,CR623278,CR625996,CR626664,X60648,X62006,X65371,X65372,X66975,NM_002819,NM_031990,NM_031991,NM_175847,AC006273,CH471242,AB208910,BC002397,BC004383,BC013694,BC023219,BT006819 AAP35465,CAA43056,CAA43973,CAA46443,CAA46444,CAA47386,P26599,Q59H49,Q9BUQ0,NP_002810,NP_114367,NP_114368,NP_787041,AAC99798,EAW61152,EAW61153,EAW61154,EAW61155,EAW61156,EAW61157,EAW61158,BAD92147,AAH02397,AAH04383,AAH13694 Hs.172550 GDB:132677 HNRNP-I|HNRNPI|HNRPI|MGC10830|MGC8461|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB polypyrimidine tract binding protein protein-coding 1348128 PTBP1P polypyrimidine tract binding protein 1 pseudogene 11024286 122888 NG_002328,AB072380,AL355076 HNRNPIP pseudo 1343835 PTBP2 polypyrimidine tract binding protein 2 The protein encoded by this gene binds to the intronic cluster of RNA regulatory elements, downstream control sequence (DCS). It is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein but it is expressed primarily in the brain. 17967866,17548433,17466948,17137510,16936729,16839202,16713569,16710414,16260624,16189514,16002244,15823607,15684381,15489334,14702039,14667811,12667457,12477932,12213192,11790298,11694331,11003644,8626763 58155 AF530581,AF530582,AF530583,AF530584,AF530585,AK022716,AK025333,AK092216,BC016582,BK000526,NM_021190,AL357150,CH471097,U89241,AB051232,AB051233,AB209266,AF176085,AF530580 AAM94624,AAM94625,AAM94626,AAM94627,AAM94628,AAM94629,AAH16582,DAA00060,O95652,Q59G43,Q9UKA9,ABM81953,ABW03352,NP_067013,CAH70266,CAH70267,CAH70268,CAH70269,EAW73005,EAW73006,EAW73007,EAW73008,EAW73009,EAW73010,AAD09652,BAB71742,BAB71743,BAD92503,AAF14284 Hs.591430 GDB:11507546 FLJ34897|PTB|PTBLP|brPTB|nPTB|nPTB5|nPTB6|nPTB7|nPTB8 protein-coding 1322951 PTCD1 pentatricopeptide repeat domain 1 15489334,14702039,12853948,12690205,12477932,9847074,9734811 26024 NM_015545,AC073063,AC090113,CH236956,CH471091,AB014532,AB073644,AK001615,AK291004,BC003688,BC024042,BC080580,BC103495,BC103502,BC103661,BG717613,CR598273 NP_056360,EAL23880,EAW76669,Q3SYP6,Q3ZB84,BAA31607,BAF83693,AAH03688,AAH80580,AAI03496,AAI03503,AAI03662,O75127 Hs.632313 KIAA0632 protein-coding 1321137 PTCD2 pentatricopeptide repeat domain 2 737633 16344560,14702039,12477932 737633 79810 NM_024754,AC026406,CH471084,AK022660,AK056761,BC018720,CR457290,CR593515,CR593542,DA082506 NP_079030,EAW95704,EAW95705,EAW95706,BAB14162,AAH18720,CAG33571,Q6IA65,Q8WV60,Q9H9R0 Hs.126906 FLJ12598 protein-coding 1344871 PTCD2P1 pentatricopeptide repeat domain 2 pseudogene 1 414887 1605991 PTCD3 Pentatricopeptide repeat domain 3 17353931,16189514,12477932,8889549,8889548 55037 NM_017952,AC009309,CH471053,AK000765,AL832520,AW004698,AY277598,BC001758,BC011832,BE670168,BI825315,BM682009,BM729078,BM792175,BM930217,BQ071234,BQ574414,BQ883563,BU631567,CA776493,CB163660,CR601580,N71834 Q96EY7,NP_060422,EAW99464,EAW99465,EAW99466,BAA91370,CAH56345,AAQ18037,AAH01758,AAH11832 Hs.323489,Hs.623885 DKFZp666K071|FLJ20758 protein-coding 1319156 PTCH1 patched homolog 1 (Drosophila) This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. 1580863 8906787,8681379,8981943,18391952,18302678,18272036,18068533,17950424,18068337,18059486,17597822,17597182,17487419,17461467,17310997,17295047,17258529,16945339,16934747,16931872,16867986,16804411,16780502,16777989,16675912,16645598,16419085,16344560,16322088,16203740,16109989,16088933,15905200,15888139,15780749,15769472,15712338,15598212,15592520,15581634,15565302,15534865,15502856,15492847,15459969,15308259,15164053,12925203,12874272,12516098,12477932,12407090,12241103,12204003,12203113,12192414,12007715,11941477,11836379,11718263,11331587,11286632,11231326,11001584,10874314,10200051,9926943,9811851,9620294,9341860,8889548,8840969,8782823,8658145,8647801,1348213 5727 NM_001083603,NM_000264,NM_001083604,NM_001083605,NM_001083606,NM_001083607,NG_007664,AL161729,AY395758,AY395768,AY395772,CH471174,AB189436,AB189437,AB189438,AB189439,AB189440,AB209495,AB212827,AB212828,AB214500,AB233422,AB233424,AB239329,AI358880,AI494442,AK124593,NM_001083602,AK130256,BC043542,BF195352,BM974119,BX117041,CR744004,DB093644,U43148,U59464 NP_001077071,NP_001077072,NP_000255,NP_001077073,NP_001077074,NP_001077075,NP_001077076,CAH73817,CAH73818,CAH73819,AAR21238,AAR21239,AAR21240,EAW92631,EAW92632,BAD74184,BAD74185,BAD74186,BAD74187,BAD74188,BAD92732,BAF47711,BAE45300,BAE45302,BAE45304,BAF47712,BAC85893,AAH43542,AAC50496,AAC50550,Q13635,Q3LFT2,Q3LFT4,Q3LG18,Q59FG5,Q5R1U7,Q5R1U9,Q5R1V0,Q5VZC1,Q5VZC2,Q6TKP8,Q6TKP9,Q6TKQ0,Q6ZVG8,Q86XG7,AAI52920 Hs.494538,Hs.638946 GDB:119447 BCNS|FLJ26746|FLJ42602|HPE7|NBCCS|PTC|PTC1|PTCH|PTCH11 patched homolog (drosophila) protein-coding 1604843 PTCH2 patched homolog 2 (Drosophila) This gene encodes a member of the patched gene family. The patched protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene is shown to be mutated in a medulloblastoma and in a basal cell carcinoma, suggesting that it plays a role in the development of some tumors. Alternative transcript variants have been described, but their biological function has not been determined. 9811851,16710414,14613484,12975309,10029063,9931336 8643 NM_003738,AL136380,AL592166,AY438664,CH471059,AF087651,AF091501,AF119569,AY358555,AY359016 NP_003729,CAI23127,CAI13000,AAR05447,EAX07017,AAD25953,AAC79847,AAD17260,AAQ88919,AAQ89375,Q5JR97,Q9Y6C5,AAI52912 Hs.591497 GDB:9865639 protein-coding 1352131 PTCHD1 patched domain containing 1 1580863 14702039,12477932 139411 NM_173495,AC073910,CH471074,AK054858,BC062344,BC121061,BX107899,DC351268,DC365753 NP_775766,EAW98994,BAB70816,AAH62344,AAI21062,Q96NR3 Hs.319503 FLJ30296|MGC149798 protein-coding 1603018 PTCHD2 patched domain containing 2 15738394,15645143,11181995,10718198,8889548 57540 NM_020780,AL031735,AL590989,CH471130,AB037758,AL117235,AL117236,BU733859 NP_065831,CAI22475,EAW71687,BAA92575,CAB55302,CAB55303,Q9P2K9,Q9UJD7 Hs.202355 DISP3|KIAA1337 protein-coding 1603484 PTCHD3 patched domain containing 3 17904097,12477932 374308 NM_001034842,AL355493,CH471072,AK126025,BC107139 NP_001030014,EAW86056,BAC86399,AAI07140,Q3KNS1 Hs.631832 FLJ44037|MGC129888|PTR protein-coding 1342695 PTCRA pre T-cell antigen receptor alpha In immature T cells the T-cell receptor beta-chain gene (TCRB; MIM 186930) is rearranged and expressed before the TCRA (MIM 186880) chain. At this early stage, TCRB can associate with the pre-T-cell receptor alpha chain (PTCRA). The PTCRA, together with TCRB and the CD3 complex (see MIM 186740), minimally make up the pre-T cell receptor (pre-TCR), which regulates early T cell development.[supplied by OMIM] 17823309,14500629,12477932,11927911,11891328,9842925,8760805,8618853,1979339 171558 NM_138296,BC153829,U36759,U38996,AF084941,AL035587,CH471081,AF101436,AF165312,AK130819,AW014894,BC069336,BC100771,BC100772,BC100773,BC100774 AAI00775,AAI53830,AAB06194,AAB18373,Q6ISU1,Q6ZNR1,NP_612153,AAC83346,CAI21484,EAX04107,EAX04108,EAX04109,EAX04110,AAF21890,AAF89556,BAC85438,AAH69336,AAI00772,AAI00773,AAI00774 Hs.169002 PT-ALPHA|PTA protein-coding 1319019 PTDSS1 phosphatidylserine synthase 1 1580863 15489334,12477932,10938271,7584026,1748687 9791 NM_014754,AP003465,CH471060,AK293036,BC002376,BC004192,BC004390,BC004502,CR594697,D14694 NP_055569,EAW91753,EAW91754,BAF85725,AAH02376,AAH04192,AAH04390,AAH04502,BAA03520,P48651,Q9BSY0,Q9BUQ5,ABM82751,ABM85938 Hs.292579 GDB:11504229 KIAA0024|PSS1|PSSA protein-coding 1317384 PTDSS2 phosphatidylserine synthase 2 1580863 17081983,15489334,14984733,12477932,10938271 81490 NM_030783,AC137894,AC138230,CH471158,AL834357,BC001210,BC015702 NP_110410,EAX02327,EAX02328,EAX02329,CAD39022,AAH01210,Q9BVG9,ABM82669,ABM85848 Hs.12851 GDB:11507547 PSS2 protein-coding 69119 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. 1581280,1581281,1581282,1302554,1302552,1302553,1302555,1302589,1300048,1302564,1302582,1302585,2290476,2291891,2289817,2292546,2292501,2292538,2292498,2292519,2292499,2292549,2292497,2292502,2289828,2292500,2292514,2292521,2290458,2292513,2292510,2292496,2292506,2292507,2292508,2292512,2292517,2292522,2292543,1643331,2292515,2292548 10646847,10760291,9593664,9811831,15951562,17218262,17274640,18064632,9256433,9616126,10468583,9367992,10918569,10866658,9187108,18377423,18339852,18324520,18240930,18240926,18239055,18220422,18216329,18199538,18199536,18184409,18178612,18174230,18091387,18066063,18065496,18059158,18006852,17982625,17974977,17959258,17958724,17954274,17949781,17940504,17936563,17928923,17924977,17919877,17912443,17911267,17908983,17895757,17886097,17880912,17875968,17873882,17873119,17873065,17479230,17471559,17452630,17452061,17444818,17438373,17427195,17420249,17405772,17392703,17390041,17372210,17369847,17348444,17347137,17341483,17334236,17328268,17300726,17277022,17255257,17235455,17219201,17218261,17218260,17178862,17151929,17126809,17108713,17101085,17097286,17062663,17060456,17043057,17033968,17013611,17006756,17000554,16984224,16972255,16963781,16951148,16949921,16938570,16916644,16912159,16872708,16861931,16849370,16842970,16821090,16818626,16810057,16807353,16793127,16773562,16707597,16704528,16702386,16697958,16697957,16676097,16676006,16652388,16637073,16621980,16598737,16574322,16571650,16537447,16534839,16525657,16506206,16496415,16487009,16457151,16436456,16432235,16425372,16424003,16421604,16418168,16371366,16371363,16331889,16331670,16325763,16274701,16220831,16219695,16194892,16179636,16154532,16124450,16107342,16096376,16088943,16055704,16052674,16020969,16012720,15994292,17847000,17845801,17827710,17826953,17826033,17786367,17761400,17729405,17727244,17713092,17701929,17700571,17699782,17684142,17684018,17681738,17681183,17669465,17657248,17657213,17646270,17638924,17638861,17636424,17616684,17611573,17606718,17593340,17581634,17575221,17565999,17563403,17526801,17504928,17504383,17490733,17483060,15516982,15500293,15492994,15489334,15475931,15468057,15457582,15453811,15382065,15355975,15287024,15273733,15240129,15231710,15209376,15205473,15196854,15172121,15129904,15126336,15069540,15046605,15046604,15043466,15009714,14981940,14976311,14737113,14724591,14711368,14702039,14699494,14674989,14663583,14642363,14623898,14623110,14574156,14566704,14561749,14559824,14557489,14534684,14532122,14519639,15988030,15987703,15986432,15968641,15948123,15900596,15897909,15891996,15848175,15843377,15824172,15805158,15803130,15802268,15793569,15784509,15766664,15764699,15725474,15725467,15710331,15707982,15701646,15674339,15668893,15633233,15623531,15589575,15584861,15569824,15564381,15551732,15543611,15537704,15532706,15523694,15517593,14516315,11156385,11146448,11121587,11058880,11035285,10978354,10955808,10889927,10866302,10852473,10817502,10807691,10748870,10706759,10582703,10555148,10400993,10400703,10340391,10234502,10213484,10193515,10092130,10051160,9927060,9915974,9832031,9797362,9794233,9735393,9697695,9635567,9600246,9467011,9425889,9399897,9393744,9356475,9354433,9354427,9345101,9331071,9286463,9259288,9241266,9140396,9090379,9072974,8889548,17157319,10748157,12960424,12918097,12917336,12869565,12857747,12844284,12839924,12833416,12808147,12804776,12788938,12767263,12743604,12743124,12717346,12712134,12695913,12687015,12684422,12668978,12632503,12620973,12620407,12569575,12569572,12569555,12543774,12535639,12517803,12509854,12508347,12495846,12477932,12471211,12459646,12452054,12429629,12415190,12414663,12379854,12370766,12370746,12367630,12351634,12297295,12235113,12209607,12203792,12203362,12190124,12177006,12176037,12168116,12168088,12133897,12119278,12115563,12091320,12085208,12084351,12077256,12077252,12067477,12055674,11986403,11953696,11948491,11948419,11943731,11932928,11925138,11916965,11906179,11896207,11875759,11870516,11866895,11857088,11854177,11849740,11836379,11801303,11799112,11784722,11751500,11748304,11729185,11707428,11689295,11504770,11494117,11476065,11303600,11270682,11259087,11230179,11190805,11179477 1581280,1581281,1581282,1302554,1302552,1302553,1302555,1302589,1302564,1302582,1302585,2290476,2291891,2289817,2292546,2292501,2292538,2292498,2292519,2292499,2292549,2292497,2292502,2289828,2292500,2292514,2292521,2290458,2292513,2292510,2292496,2292506,2292507,2292508,2292512,2292517,2292522,2292543,1643331,2292515,2292548 5728 NM_000314,NG_007466,AC063965,AF000734,AF067844,AF143315,CH471066,DQ073384,AA017584,AI825848,AK021487,AK021619,AK024986,AK124525,AK130076,BC005821,BG772190,CA944942,CR450306,U92436,U93051,U96180,CR624542 NP_000305,AAC08699,AAD13528,AAD38372,EAW50172,EAW50173,EAW50174,EAW50175,AAY57327,AAH05821,CAG29302,AAC51182,AAC51183,AAB66902,P60484,ABM83530,ABM86488,ABW03514 Hs.500466 GDB:6022948 BZS|MGC11227|MHAM|MMAC1|PTEN1|TEP1 phosphatase and tensin homolog protein-coding 1351607 PTENP1 phosphatase and tensin homolog (mutated in multiple advanced cancers 1), pseudogene 1 1580863 12477932,11886535,10208437,9794233,9620558,9467947,9439675,9393738,9326929 11191 NG_001337,AB009903,AF343912,AL356489,AF017999,AF019083,AF023139,BC038293 BAA24090,AAB70558,AAC52017,AAH38293 Hs.493716 GDB:9914453 PTEN-rs|PTEN2|PTH2|psiPTEN pseudo 1352492 PTER phosphotriesterase related 1580863 15489334,14702039,12477932,9925913,9237666 9317 NM_001001484,NM_030664,AL360230,CH471072,AF212237,AK095486,AL119009,AW451393,AW451917,BC015092,BC050411,BX648556,CR620012 NP_001001484,NP_109589,EAW86226,EAW86227,EAW86228,EAW86229,EAW86230,AAK14923,AAH15092,AAH50411,Q5VWW0,Q96BW5 Hs.444321,Hs.644953 GDB:9955992 RPR-1 protein-coding 1346483 PTF1A pancreas specific transcription factor, 1a This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. 633758,1580863 12185368,17928434,16354684,15543146,15164054,12617822,10768861,9851981,8861960,8703005,2612907,1720355 633758 256297 NM_178161,AL139281,BK000272,AF181999,BM055347,CK904916 NP_835455,CAI12668,DAA01052,AAG09441,Q7RTS3 Hs.351503 PTF1-p48 protein-coding 1349248 PTGDR prostaglandin D2 receptor (DP) The protein encoded by this gene is a G-protein-coupled receptor. It has been shown to function as a prostanoid DP receptor. The activity of this receptor is mainly mediated by G-S proteins that stimulate adenylate cyclase resulting in an elevation of intracellular cAMP and Ca2+. Knockout studies in mice suggest that the ligand of this receptor, prostaglandin D2 (PGD2), functions as a mast cell-derived mediator to trigger asthmatic responses. 1580863 7642548,18005048,17965752,17878378,17845306,17541272,17538632,17496729,17307163,17157653,16629782,15749909,15496624,15489334,15004188,12895603,12672054,12494276,12477932,12230502,12119603,12002745,11742277,11139429,10827082,8833158,1422574 5729 NM_000953,AL365475,CH471078,DQ418808,U31098,U31332,AK026202,BC040968,EF577397,U31099 NP_000944,EAW65657,ABD72608,AAC50176,AAC50178,AAH40968,AAC50177,Q13258,Q1ZZ52,ABQ52417 Hs.306831 GDB:681159 AS1|ASRT1|DP|DP1|MGC49004 protein-coding 737496 PTGDS prostaglandin D2 synthase 21kDa (brain) The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. 729554,1580863,1642582,1300048,1642584,1642580,1642581 15862967,16303743,16199891,15718494,15489334,15453544,15325247,15164053,15155382,15081423,12900000,12477932,12358155,11882588,11751991,11669522,11287775,11068878,10781097,10462696,9844724,9475419,9405674,9162076,8889548,8761996,8599604,8336140,8336134,8300593,8253813,8163486,7689714,1902577,1726844,1385416,7692978,9065498,18349703,17852800,17588556,17574780,17532558,17404210,17307169,17230501,17093043,16713569,16335952 729554,1642582,1642584,1642580,1642581 5730 NM_000954,AL807752,CH471090,DQ297141,M98538,M98539,AA621632,AI659247,AK075333,AY026356,BC005939,BC041463,BG037037,BM686612,BT019921,BT019922,CR594734,CR610092,CR612267,CR614437,M61900 NP_000945,CAI12756,CAI12757,CAI12758,CAI12759,CAI12760,EAW88321,EAW88322,EAW88323,ABB84464,AAB51074,AAK07679,AAH05939,AAH41463,AAV38724,AAV38725,AAA36494,P41222 Hs.446429 GDB:136455 LPGDS|PDS|PGD2|PGDS|PGDS2 prostaglandin d2 synthase protein-coding 733054 PTGER1 prostaglandin E receptor 1 (subtype EP1), 42kDa The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. 1580863 8253813,17906615,17877755,17611676,17525067,17496729,16670773,16393343,16331686,15886234,15855163,15489334,14744769,14562138,12841871,12788892,12642666,12477932,11951086,11235015,7938166,7759114,1160156 5731 NM_000955,AB065464,AC008569,CH471106,AY275470,BC029768,BC039034,BC051286,L22647 NP_000946,BAC05723,EAW84422,AAP32302,AAH29768,AAH39034,AAH51286,AAC37539,P34995,Q05C32 Hs.159360 GDB:270669 EP1 prostaglandin e receptor 1 protein-coding 1342884 PTGER2 prostaglandin E receptor 2 (subtype EP2), 53kDa 1580863 18083712,10462542,18296611,18254372,18086382,18005048,17877755,17728378,17611676,17555711,17533365,17525067,17496729,17384145,17290397,17078003,17028262,16879213,16607275,16461132,16267225,15970595,15489334,15347673,15044590,14699136,14562138,14517215,12933667,12788892,12743126,12477932,12466123,12228765,12149218,12051958,11951086,11834444,11093764,10521663,8250933,8163486,8078484,7759114 5732 NM_000956,AF134202,AL365475,CH471078,DQ398948,AY275471,BC093927,BC093929,BE739744,BF029797,BQ014559,U19487,X83868 NP_000947,AAD44177,EAW65652,EAW65653,EAW65654,ABD48958,AAP32303,AAH93927,AAH93929,AAA61681,CAA58749,P43116 Hs.2090 GDB:270672 EP2 protein-coding 731378 PTGER3 prostaglandin E receptor 3 (subtype EP3) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple alternatively spliced transcript variants encoding eight distinct isoforms have been reported. 737727 10336471,9073510,10947062,8307176,18296611,18023986,18005048,17877755,17644362,17496729,16710414,16707103,16274459,15528329,15489334,15304361,15290741,14699136,14562138,12788892,12743126,12699873,12642666,12477932,11235015,9751056,9065782,8135729,8117308,8075855,7981210,7883006,7759114,7476918 737727 5733 NM_198713,NM_198716,NM_000957,NM_198712,NM_198714,NM_198718,NM_198719,NM_198715,NM_001126044,AL031429,AL158087,CH471059,CS173017,D86096,AI273491,AK290634,AK315825,AL050227,AL700981,AY387856,AY429108,BC024229,BC118578,BC118659,D38297,D38298,D38299,D38300,D38301,D86097,D86098,L26976,L27488,L27489,L27490,L32660,L32661,L32662,S68874,NM_198717,S69200,S69326,U13214,U13215,U13216,U13217,U13218,X83857,X83858,X83859,X83860,X83861,X83862,X83863 NP_942010,NP_942006,NP_942009,NP_000948,NP_942005,NP_942007,NP_942011,NP_942012,NP_942008,NP_001119516,EAX06436,EAX06437,EAX06438,EAX06439,EAX06440,EAX06441,EAX06442,EAX06443,EAX06444,EAX06445,EAX06446,CAJ33690,BAA19949,BAA19950,BAA19951,BAA19952,BAA19954,BAA19955,BAA19956,BAA19957,BAF83323,BAF98716,AAQ90021,AAR07903,AAH24229,AAI18579,AAI18660,BAA07416,BAA07417,BAA07418,BAA07419,BAA07420,BAA19958,BAA19959,AAA60076,AAC13372,AAC13373,AAC13374,AAA68191,AAA68192,AAA68193,AAB29855,AAB29854,AAB30208,AAA21130,AAA21131,AAA21132,AAA21133,AAA21134,CAA58737,CAA58738,CAA58739,CAA58740,CAA58741,CAA58742,CAA58743,O00325,P43115,Q147U0,Q147X8,Q5CZ57,Q5CZ59,Q5CZ60,Q5CZ61,Q5CZ62,Q5CZ63,Q5CZ64,Q5TH86,Q5TH88,Q6TTN3,Q9UBW3 Hs.445000 GDB:321928 EP3|EP3-I|EP3-II|EP3-III|EP3-IV|EP3e|MGC141828|MGC141829|MGC27302 prostaglandin e receptor 3 protein-coding 736498 PTGER4 prostaglandin E receptor 4 (subtype EP4) The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. 1581283,1581284,1580863 8163486,8862514,18254372,18086382,18083712,18005048,17877755,17631291,17611676,17525067,17496729,17447842,17290397,17237224,17130837,17046175,16857763,16574793,16428339,16020747,15970595,15528329,15489334,15347673,15290741,15100359,14709160,14517215,12566441,12477932,12228765,12215436,12149218,11951086,11948128,11876748,11782353,11706038,11597569,11470276,11423555,11344234,11093764,10880739,9214685,8855294,8661119,8250933,8078484,7759114 1581283,1581284 5734 NM_000958,AC093264,CH471119,DQ400918,X97873,AY429109,BC027934,BC101534,BC113523,BM312677,BQ029720,CD000197,D28472,L25124,L28175 NP_000949,EAW55996,EAW55997,ABD48960,CAA66463,AAR07904,AAH27934,AAI01535,AAI13524,BAA05834,AAA36438,AAA36434,P35408 Hs.199248 GDB:637780 EP4|EP4R|MGC126583 protein-coding 1347459 PTGER4P1 prostaglandin E receptor 4 (subtype EP4) pseudogene 1 5735 GDB:637781 1342841 PTGER4P2 prostaglandin E receptor 4 (subtype EP4) pseudogene 2 5736 GDB:637782 69032 PTGES prostaglandin E synthase The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. 1580863,1300048 10377395,18050215,18038187,17968936,17928629,17707523,17697149,17696939,17505022,17295901,16952028,16891468,16598755,16212965,15870920,15868626,15789615,15489334,15379214,15234907,15188353,15167446,15155382,15023995,14871981,14722058,14702039,14671209,14630996,14558087,12860389,12835414,12835322,12818425,12721500,12672824,12664599,12626523,12519887,12512699,12477932,12460774,12414902,12145315,10760517,10091672,9743208,9305847,8253813,8163486 9536 NM_004878,AJ271802,AL590369,AL592219,EF543149,AF010316,AF027740,AF217965,AF217972,AK127663,BC008280,BC018201,BM550187,BQ927197,BX357872,BX396892,CB960064,CR605510,CR610930,CR618950,CR620820 NP_004869,CAB72099,CAI14506,ABQ01233,AAC39534,AAB82299,AAG17208,AAG17215,AAH08280,O14684,Q5SXR8,Q9GZZ5 Hs.146688 GDB:9957276 MGC10317|MGST-IV|MGST1-L1|MGST1L1|MPGES|PGES|PIG12|PP102|PP1294|TP53I12|mPGES-1 protein-coding 1321966 PTGES2 prostaglandin E synthase 2 The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 15231747,11256614,17979097,17697149,17566096,17266179,16714329,16381901,15879117,15489336,15489334,15164053,14702039,12835322,12804604,12477932,12050152,11866447,11847219,11076863,9373149,8300593,8125298 80142 NM_198940,NM_198938,NM_025072,AL590708,CH471090,AK024100,AK057049,AK223520,AL525982,BC009397,BC009456,BC011613,BE797008,BI761840,BI826720,BM739176,BQ889675,CR591721,CR592294,CR594346,CR595131,CR596747,CR597019,CR603098,CR603861,CR604511,CR606648,CR607888,CR616554,CR616835,CR618698,CR620072 NP_945178,NP_945176,NP_079348,CAI13821,CAI13822,EAW87741,EAW87742,EAW87743,EAW87744,EAW87745,EAW87746,BAB14826,BAD97240,AAH09397,AAH09456,AAH11613,Q0JVL7,Q9H7Z7,CAL37443,ABM82830,ABM86016 Hs.495219 GDB:11505352 C9orf15|FLJ14038|GBF1|MGC11289|PGES2|mPGES-2 protein-coding 1606321 PTGES3 prostaglandin E synthase 3 (cytosolic) 12135483,10922363,12077419,8114727,17697149,17081983,16916647,16809759,16807684,16403413,16094384,15489334,14702039,14507910,12477932,11879970,11812147,11809754,11531413,11447118,11274138,11259606,11056392,11013261,10811660,10691735,10581266,10207098,10095121,9727490,9261129,9148915,8889548,16189514 10728 NM_006601,AC117378,CH471054,AK098214,AK291945,AL603017,BC003005,BC021167,BU732883,CR591911,CR592020,CR594386,CR595555,CR595624,CR596806,CR597676,CR599367,CR601887,CR610537,CR610680,CR610732,CR611609,CR619927,CR621204,CR622125,CR622942,L24804,Z69891 NP_006592,EAW96953,EAW96954,EAW96955,EAW96956,EAW96957,EAW96958,BAF84634,AAH03005,AAH21167,AAA18537,Q15185,ABM87709,ABW03847 Hs.50425 P23|TEBP|cPGES protein-coding 737369 PTGFR prostaglandin F receptor (FP) The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. 1580863 8300593,9918852,17582204,17496729,17478553,17467803,16911823,16855208,16710414,16378246,16096282,16061484,15748887,15489334,15118249,15028279,14984197,14764825,14746914,12519077,12477932,11951086,9341156,9235889,8253813,8163486,7988697,7759114 5737 NM_001039585,NM_000959,AB041713,AB201108,AF068679,AL136324,CH471059,CS008570,CS008582,AF004021,AK292845,AY337000,AY485530,BC112965,BG771316,BQ897935,CA429969,CD013876,H02113,L24470 NP_001034674,NP_000950,BAA94756,BAE03222,AAC82378,CAC36038,CAI23426,EAX06350,EAX06351,CAI53641,CAI53647,AAB63152,BAF85534,AAQ76788,AAR84381,AAI12966,AAA17684,P43088,Q4LEK1,Q5JVI7,Q6RYQ6,Q71UN9,ABM81883,ABM85046 Hs.654365 GDB:305480 FP|MGC120498|MGC46203 prostaglandin f receptor protein-coding 733934 PTGFRN prostaglandin F2 receptor negative regulator 69949,1580863 11278880,17960739,17407154,16690612,16537545,16303743,14702039,12477932,11673522,11087758,10718198,9643346,8804121,8655148 69949 5738 AL157904,AL445231,CH471122,AB014734,AB037857,AK001863,AK024785,AK074637,BC022235,BC042164,BC063317,BC098142,BC114520,BC139718,BC152454,NM_020440 NP_065173,CAI22650,CAH71960,EAW56662,EAW56663,BAB20271,BAA92674,BAC11104,AAH98142,AAI14521,AAI39719,AAI52455,Q1WWL2,Q4QQP8,Q5VVU9,Q9H3U3,Q9P2B2 Hs.418093 GDB:9285302 CD315|CD9P-1|EWI-F|FLJ11001|FPRP|KIAA1436|SMAP-6 protein-coding 1322052 PTGIR prostaglandin I2 (prostacyclin) receptor (IP) The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. 1580863 15194446,15056772,15053924,12850828,12664600,12488443,12481546,12477932,12446735,12119468,12016224,11895442,11854299,11545623,11502878,11443126,10889200,10446129,9853255,9722557,9264479,9242534,9185236,8889548,7938166,7512962,18162607,18042246,18005048,17704830,17496729,17481829,17015447,16942748,16885208,16527812,16399867,16373414,16114876,15979846,15489334,15471868,15469414,15248755,7923647,7759114,7665161,7514139 5739 NM_000960,AC093503,CH471126,CQ834246,D38127,AY242134,BC075814,BC110342,BQ185457,CR601077,D25418,D29634,L29016 NP_000951,EAW57432,EAW57433,CAH05338,BAA07325,AAO92301,AAH75814,AAI10343,BAA05008,BAA06110,AAA36448,P43119,Q2YD89 Hs.458324 GDB:373439 IP|MGC102830|PRIPR protein-coding 736622 PTGIS prostaglandin I2 (prostacyclin) synthase This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. 1580667,1580695,1298040,1580863,1300048 15115769,8812456,18081314,17635855,17374734,17303142,17221326,17070428,16537708,16406803,16081819,16007128,15489334,15182267,14702039,12924623,12751759,12741817,12664597,12562775,12477932,12428676,12414902,12414894,12372404,12213900,12193162,12040339,11924728,11780052,11368458,11339822,11281454,11130769,9367522,8831668,8630042,8185632 1580695,1298040 5740 NM_000961,AL118525,BX640942,CH471077,D83402,D84124,AF297048,AF297049,AF297050,AF297051,AF297052,AK055640,BC101809,BC101811,D38145 NP_000952,CAC14162,EAW75655,BAA11910,BAA28219,AAG31781,AAG31782,AAG31783,AAG31784,AAG31785,AAI01810,AAI01812,BAA07343,Q16647,Q6LEN0,Q6LEN2 Hs.302085 GDB:362921 CYP8|CYP8A1|MGC126858|MGC126860|PGIS|PTGI prostaglandin i2 synthase protein-coding 736739 PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes PTGS1, which regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. PTGS1 is thought to be involved in cell-cell signaling and maintaining tissue homeostasis. Alternative splicing of this gene generates two transcript variants. The expression of these two transcripts is differentially regulated by relevant cytokines and growth factors. 1580863,1300048 9630216,1907252,18287876,18214026,18173552,17977913,17926541,17868881,17681165,17673564,17671743,17640058,17631383,17624243,17559347,17555580,17495879,17355643,17322116,17320986,17301694,17264103,17130490,17105783,15375804,15361066,15328521,15308583,15301234,15190260,15167967,15159324,15086459,15041270,14988266,14625295,14507922,12954496,12842195,12835322,12784332,12730088,12720297,12711844,12711701,12665651,12664596,12545150,12519124,12477932,12242329,12237309,12213900,12193665,12192304,12050227,11981837,11920472,11897504,11877441,11809691,11477109,11318639,11121413,10999846,10988074,10900130,9435560,8900446,8643612,8365485,8349699,17078001,17071117,17062130,16930602,16875891,16857763,16787416,16702043,16678543,16493486,16411757,16344721,16323955,16181984,16181776,16150050,16141368,16115753,16105649,16055872,15963707,15870920,15720413,15705965,15654517,15607906,15504548,15489334,15453269,8181472,8121489,7864630,7559624,7510883,2512924,1734857,1587858,12354292,9639560,8581564,7521167 5742 NM_000962,NM_080591,AF440204,AL162424,AL359636,AY449688,CH471090,M31822,AF086438,AF129755,AJ420464,AK290022,BC029840,DQ180740,DQ180741,DQ180742,M59979,S36219,S36271,S78220,U63846 NP_000953,NP_542158,AAL33601,CAI14714,CAI14715,CAI14716,CAM45740,CAM45741,AAR08907,EAW87529,EAW87530,AAA36439,BAF82711,AAH29840,ABA60097,ABA60098,ABA60099,AAA03630,AAB22216,AAB22217,AAB21215,AAC50632,P23219,Q3HY28,Q3HY29,Q3HY30,Q5T7T7,Q5T7T8,Q6LCE7,ABM83367,ABM86578 Hs.201978 GDB:128070 COX1|COX3|PCOX1|PGG/HS|PGHS-1|PGHS1|PHS1|PTGHS prostaglandin-endoperoxide synthase 1 protein-coding 731006 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes PTGS2, which shows 86% - 89% amino acid sequence identity with mouse, rat, sheep, bovine, horse and rabit PTGS2 proteins, respectively. Human PTGS2 is expressed in a limited number of cell types and regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. The expression of this gene is deregulated in epithelial tumors. 1580671,1580660,1581285,1581286,1581287,1581288,1581289,1625347,1580863,1642587,1642600,1300048,1642588,1642586,1642592,1642596,1642597,1642601,1642603,2289157 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1580671,1580660,1581285,1581286,1581287,1581288,1581289,1625347,1642587,1642600,1642588,1642586,1642592,1642596,1642597,1642601,1642603,2289157 5743 AF044206,AF276953,AL033533,AY229989,AY382629,CH471067,D28235,L34209,U04636,U20548,U44805,AJ634912,AK292167,AY151286,AY462100,BC013734,L15326,M90100,NM_000963 AAF85977,CAB41240,AAO38056,AAQ75702,EAW91216,BAA05698,AAN87129,AAA57317,AAD14842,CAG25548,BAF84856,AAN52932,AAR23927,AAH13734,AAA35803,AAA58433,P35354,NP_000954,Q6ZYK7,Q8IZA9,Q9NNY7,ABW03733,ABW03398 Hs.196384 GDB:134805 COX-2|COX2|GRIPGHS|PGG/HS|PGHS-2|PHS-2|hCox-2 protein-coding 69107 PTH parathyroid hormone The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH). 1580863,1598941 10499494,7797535,15080150,9927325,7721880,10913913,14718574,18285546,18283239,18280230,18279669,18165223,18061978,18056632,17976926,17823083,17351276,17121534,16762954,16682833,16677544,16475791,16412323,16362385,16272640,16117875,16105030,16081646,15890770,15826940,15824859,15808916,15769857,15707954,15639837,15515479,15514034,15504937,15489334,15472173,15340161,15297458,15240611,15227728,15186723,15962290,15917161,15070925,15070914,15035617,14969386,14730973,14506618,12947048,12914574,12905817,12893275,12490859,12477932,12403624,12369776,12364326,12207101,12195069,12046039,11984699,11956184,11918225,11814621,11467957,11278902,10837469,10623601,10523031,9482662,9108031,8922395,8344299,7797503,6950381,6885073,6220408,4833516,4721748,4521809,4474131,3005800,2215618,2212001,2069952,1672845,1474331,1302009,1125201,728431 1598941 5741 NM_000315,A29146,AC021269,CH471064,J00301,AA843660,BC096142,BC096143,BC096144,BC096145,BX103059,BX106232,V00597 NP_000306,CAA01956,EAW68494,EAW68495,AAA60215,AAH96142,AAH96143,AAH96144,AAH96145,CAA23843,P01270,Q9UD38 Hs.37045 GDB:119522 protein-coding 1601727 PTH2 parathyroid hormone 2 TIP39 is related to parathyroid hormone (PTH; MIM 168450) and PTH-related protein (PTHRP; MIM 168470) and is a ligand for PTH receptor-2 (PTHR2; MIM 601469) (John et al., 2002 [PubMed 11861531]).[supplied by OMIM] 15489334,14988434,12754053,12559132,12477932,12098667,11861531,11818570,10854439,10526330 113091 NM_178449,AC010619,CH471177,AY037555,AY048588,BC093995,BC093997 NP_848544,EAW52480,AAK68689,AAL06597,AAH93995,AAH93997,Q96A98 Hs.339845 TIP39 tuberoinfundibular 39 residue protein precursor protein-coding 730965 PTH2R parathyroid hormone 2 receptor The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. 1580863 7797535,18280230,15670850,15489334,14988434,12834174,12477932,11861531,10854439,9482662,8921382 5746 NM_005048,AC012362,AC019185,CH471063,U47124,U47129,AY497546,BC036811,CR617338,U25128 NP_005039,AAY14871,AAY15091,EAW70451,AAA96796,AAC50767,AAR90849,AAH36811,AAC50157,P49190,Q53SF6,Q53T35 Hs.570296 GDB:731977 PTHR2 protein-coding 736996 PTHLH parathyroid hormone-like hormone The protein encoded by this gene is a member of the parathyroid hormone family. This hormone regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of malignancy. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. 1579870,1580863 2708388,9832460,2549037,8058749,10828849,10773581,9008714,10803599,8641188,18426836,18280230,18096456,18035481,18007586,17964713,17516841,17443683,17426287,17390372,17370040,17213971,16965770,16551631,16500729,15889157,15878959,15629138,15582709,15489334,15291755,15286039,15282196,15210588,15128746,15023531,14969386,14503917,12947048,12933685,12929929,12852260,12850290,12850281,12727200,12647214,12586762,12581888,12576923,12549623,12538599,12504010,12477932,12391194,12374685,12364464,12359237,12220636,12210735,12201218,12000745,11997185,11456271,11401507,11159841,10947864,10873655,10373465,10066803,10050767,9801466,9391077,9144344,9108031,9048639,8982748,8753751,8683730,8396010,7708054,3616618,3290897,2928340,2885845,2829195,2744490,2288637,1954916,1915066,16189514,16455237,16298826 1579870 5744 NM_198966,NM_002820,NM_198964,AC008011,CH471094,M17183,M24349,M24350,M24351,X14304,AI569027,AI591151,AI760061,BC005961,BG676028,BG679319,BG680355,BI752853,BI963162,BT007178,CR541882,J03580,J03802,M26958,M26959,M34071,NM_198965 NP_945316,NP_945317,NP_002811,NP_945315,EAW96572,EAW96573,EAW96574,EAW96575,EAW96576,AAA60221,AAA60358,AAA60359,AAA60360,CAA32480,AAH05961,AAP35842,CAG46680,AAA60216,AAA60218,AAO49791,AAO49793,AAA60217,P12272,Q53XY9,Q6FH74,ABM87392,ABW03879 Hs.591159 GDB:120323 HHM|MGC14611|PLP|PTHR|PTHRP parathyroid hormone-like peptide protein-coding 731312 PTHR1 parathyroid hormone receptor 1 The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. 729796,1599978,1599980,1580863 12933685,12595070,12592371,12477932,12403624,12368206,12359237,12220636,12107160,12075354,11932319,11850620,11726668,10913300,10854575,10770955,10523019,10487664,9817594,9737850,9649554,9178745,9108031,8703170,8397094,8386612,8197183,8020952,7745008,7701349,1602151,12947048,16189514,9927325,9745456,10709993,18375760,18285546,18280230,18261460,17904173,17885720,17884816,17511743,17500070,17410535,17406357,17321669,17276526,17227205,17200368,17038311,16816927,16813525,16508749,16492667,16369896,16274647,16236727,16213899,16099817,16029167,15744035,15670850,15611080,15609321,15523647,15489334,15294324,15016722,14871409,14729622 729796,1599978,1599980 5745 NM_000316,AB065462,AC109583,AF077526,CH471055,U22409,AY449732,BC031578,BC110388,BC112221,BC112247,CA412652,CR595263,L04308,U17418,X68596 NP_000307,BAC05721,AAC27643,EAW64793,EAW64794,AAB60657,AAR18076,AAI10389,AAI12222,AAI12248,AAA36525,AAA56774,CAA48589,Q03431,Q0VGD7,Q71UK6,Q8NHB4 Hs.1019 GDB:138128 MGC138426|MGC138452|PTHR protein-coding 732757 PTK2 PTK2 protein tyrosine kinase 2 This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. At least four transcript variants encoding four different isoforms have been found for this gene, but the full-length natures of only two of them have been determined. 729831,1581290,1580863,2292571,2292561,2292562,2292572,2292554,2292569,2292570,2292555,2292558,2292559,2292576,2292604,2292632,2292557,2292563,2292568,2292579,2292556,2292560,2292584,2292577 15077193,8649368,10822899,14688263,9636140,8422239,10801330,9325343,18349846,18215142,18206965,18198129,18078954,18078823,18073135,18032789,17982280,17967873,17904248,17888894,17879163,17828307,17675501,17620332,17537730,17515959,17514628,17469136,17443665,17397984,17332925,17327229,17317726,17240116,17215324,17213807,17192257,17113264,17096371,17088251,17081983,17081517,17028776,16998832,16920698,16912186,16899713,16842883,16705171,16638855,16620772,16523241,16452200,16412380,16406804,16371650,16354697,16308318,16298995,16270396,16260653,16251422,16247468,16244766,16226872,16189514,17999388,16159962,16153436,16141199,16105876,16054026,16039608,16007195,15975092,15951569,15895076,15866427,15855171,15850774,15778501,15743500,15736429,15681841,15657875,15657578,15652490,15640164,15611137,15557280,15532706,15455382,15369772,15331608,15247219,15234210,15210734,15175910,15166238,15161045,15157737,15155793,15121855,15102844,15102689,14702039,14699482,14670178,14637150,14617636,14584897,14578863,14553943,14521607,14500712,12954625,12939401,12907754,12904305,12884911,12881299,12847914,12844492,12815062,12803239,12794117,12748169,12700132,12659633,16136050,12651906,12611892,12558988,12551902,12543870,12531888,12529399,12477932,12435390,12387730,12376862,12370821,12297287,12242727,12226752,12216109,12215217,12174366,12169389,12167618,12135674,12119061,12110680,12058076,12054581,12049193,12023386,12011046,12005431,11988077,11986332,11980671,11950595,11927607,11916084,11891225,11886520,11809746,11807823,11799111,11779709,11668182,11602246,11514617,11513739,11496289,11476890,11468295,11389892,11382919,11369769,11337490,11331870,11314030,11278857,11278462,11278335,11278329,11160818,11113628,10938112,10587647,10545505,10526262,10512882,10455189,10446223,10430888,10400703,10384144,10082579,10048580,9867854,9837978,9822703,9756887,9750131,9708406,10769033,10655584,9658172,9642276,9553131,9507031,9497381,10931187,10925297,10873094,10808124,10806474,9461600,9422762,9418872,9360983,9360968,9342235,9257837,9230116,9169439,9079653,8986614,8941336,8922390,8879209,8816475,8770310,8668148,8660853,8654393,8649427,8609175,8247543,8054685,7997267,7766995,7744883,7692878,7622520,7589239,7537275,7529876,7529872,7509446,7479864,15528360,12615911,12629171,8810278,15494733,10330411,7515480,9148935,15494732,11359909,7597091 729831,1581290,2292571,2292561,2292562,2292572,2292554,2292569,2292570,2292555,2292558,2292559,2292576,2292604,2292632,2292557,2292563,2292568,2292579,2292556,2292560,2292584,2292577 5747 NM_153831,NM_005607,AC067931,AC100860,AC105009,AC105235,CH471060,AB209071,AB209083,AK055139,AK094999,AK124810,AL832961,BC015361,BC028733,BC035404,BC043202,CR616513,L13616 NP_722560,NP_005598,EAW92210,EAW92211,EAW92212,EAW92213,EAW92214,BAD92308,BAD92320,BAC04470,CAH56296,AAH28733,AAH35404,AAA58469,Q05397,Q59GM6,Q59GN8,Q658W2,Q8IYN9,Q8N9D7,ABW03595 Hs.395482 GDB:134763 FADK|FAK|FAK1|pp125FAK protein tyrosine kinase 2 protein-coding 1346204 PTK2B PTK2B protein tyrosine kinase 2 beta This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. 1580863,1642605,729912,2292571,1642610,1642621,1642607,1581409,1642647,2292558,2292575 8497321,9020138,10867021,10880513,7529876,8939945,7499242,18198130,18075463,17950644,17906699,17785844,17581868,17563746,17551499,17537919,17329398,17205062,17192257,16998626,16949788,16945503,16840719,16783820,16774943,16760434,16514607,16433632,16421571,16055703,15967096,15944312,15881658,15778498,15695828,15588985,15585656,15539082,15499613,15489334,15213840,15128873,15128501,15105428,15070849,15050747,14969582,14963038,14961028,14729602,14684825,14676843,14585963,12943720,12933673,12893833,12844492,12794117,12626562,12606503,12578912,12576483,12522270,12515814,12486027,12477932,12458207,12244133,12231407,12096713,12082274,12077257,12063569,12011061,11916084,11856738,11850124,11820787,11818507,11774117,11751905,11744621,11739373,11683411,11668182,11493697,11478920,11461120,11352632,11337490,11311138,11278472,11238453,11162638,11149930,11036077,11007796,10961871,10821841,10797305,10777553,10769033,10747947,10713673,10708762,10702271,10521452,10518561,10354709,10329689,10322114,10022920,10022914,9750131,9621077,9565592,9560226,9545257,9512511,9446638,9442086,9422762,9402324,9242628,9104812,9099734,9091579,8995252,8849729,8838818,8798684,8792832,7673154,7544443,1718748,12960231,12857973,12628756,10356363,10194422,9362541,12354773,12629171,15494733 1642605,729912,2292571,1642610,1642621,1642607,1581409,1642647,2292558,2292575 2185 NM_173174,NM_004103,NM_173176,NM_173175,AC010856,AC124649,AF311103,CH471080,AB209085,AK128371,AY429564,BC036651,BC042599,BF796371,CR613708,D45853,L49207,U33284,U43522 NP_775266,NP_004094,NP_775268,NP_775267,EAW63553,EAW63554,EAW63555,EAW63556,BAD92322,BAC87404,AAH36651,AAH42599,BAA08289,AAB47217,AAC50203,AAC05330,Q14289,Q59GM4,Q6PID4 Hs.491322 GDB:9467868 CADTK|CAKB|FADK2|FAK2|FRNK|PKB|PTK|PYK2|RAFTK protein-coding 1319246 PTK6 PTK6 protein tyrosine kinase 6 The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. 1580863 16179349,15961400,15951569,15870689,15572663,15539407,15489334,15471878,15056653,14676834,12833144,12725532,8036022,17997837,16651629,16568091,11997104,12482964,12477932,12297019,12121988,11780052,11330822,11114724,10980601,10913193,10430081,9749526,9284935,8940083,8247543 5753 NM_005975,AL121829,CH471077,U61412,AK124082,BC035843,CR591121,X78549 NP_005966,CAC15525,EAW75262,EAW75263,AAC34935,AAH35843,CAA55295,Q13882 Hs.51133 GDB:134767 BRK|FLJ42088 protein-coding 1344975 PTK7 PTK7 protein tyrosine kinase 7 Receptor protein tyrosine kinases transduce extracellular signals across the cell membrane. A subgroup of these kinases lack detectable catalytic tyrosine kinase activity but retain roles in signal transduction. The protein encoded by this gene is a member of this subgroup of tyrosine kinases and may function as a cell adhesion molecule. This gene is thought to be expressed in colon carcinomas but not in normal colon, and therefore may be a marker for or may be involved in tumor progression. Four transcript variants encoding four different isoforms have been found for this gene. 1580863,2293492 8882711,7478540,17671748,15683231,14702039,12754519,12477932,12427550,9154124,8247543 2293492 5754 NM_002821,NM_152882,NM_152880,NM_152881,AF447176,AL355385,CH471081,AB209350,AF531868,AF531869,AF531870,AF531871,AF531872,AK055648,AK093428,AK097717,AK291016,AK292589,AL157486,BC002377,BC014626,BC046109,BC071557,BM811107,CR611115,CR625968,U33635,U40271,AK131487 NP_002812,NP_690621,NP_690619,NP_690620,AAL39062,CAI13783,EAX04154,EAX04155,EAX04156,EAX04157,EAX04158,EAX04159,EAX04160,BAD92587,AAN04862,AAN04863,AAN04864,AAN04865,AAN04866,BAD18632,BAF83705,BAF85278,CAB75674,AAH46109,AAH71557,AAA87565,AAC50484,Q13308,Q59FV9,Q5T650,Q6IQ54,Q6ZMU3,Q86X91,Q8NFA5,Q8NFA6,Q8NFA7,Q8NFA8,Q9NSQ6 Hs.90572 GDB:134760 CCK4 protein-coding 1347658 PTK8 PTK8 protein tyrosine kinase 8 8247543 5755 GDB:134752 1353262 PTK9P1 protein tyrosine kinase 9 pseudogene 1 494554 1346742 PTLAH patella aplasia-hypoplasia 10417287 8830 GDB:9957342 733876 PTMA prothymosin, alpha 1580863 10854063,18240569,17929838,17876542,17188166,17081983,17046193,17012289,16940531,16669873,16628001,16478804,16353248,16341674,15657435,15556635,15489334,15325071,15242774,12943695,12634383,12522243,12477932,12062405,11967287,11897665,11759895,11727831,11528108,11310559,11282171,10891508,10675528,9373149,9334214,9099694,8886855,8814229,8592501,8485135,8415730,8125298,7916742,7913591,7588773,3532956,3474615,3467312,3466166,2785990,2708378,2209614,1814846,1632187,1612591,1426245,16189514,15861128,15607035,10938099,1545115 5757 NM_002823,AC073476,CH471063,L21693,L21696,M67480,S56449,AF348514,AF452640,AK223605,AY169282,BC003510,BC013859,BC022433,BC034921,BC051265,NM_001099285,BC070480,BC071647,BC071879,BC098420,BM839980,BX647606,CR592067,CR592101,CR592291,CR593816,CR594103,CR595128,CR595284,CR597059,CR599378,CR599711,BC066905,CR626005,M14483,M14630,M14794,M26708,CR599993,CR600163,CR601088,CR601616,CR602673,CR605128,CR609111,CR610776,CR611351,CR611791,CR612313,CR612721,CR612758,CR616215,CR617850,CR619087,CR621405,CR621770,CR623382,CR623715,CR623981,CR624434 NP_001092755,NP_002814,AAY24150,EAW70969,EAW70970,EAW70971,EAW70972,EAW70973,EAW70974,EAW70975,AAB08706,AAB08709,AAA63239,AAA63240,AAD13882,AAK30146,AAP97694,BAD97325,AAO18189,AAH03510,AAH22433,AAH34921,AAH51265,AAH66905,AAH70480,AAH71647,AAH71879,AAH98420,AAA61183,AAA61182,AAA61184,AAA60213,P06454,Q15200,Q15204,Q53S24,Q7KZ52,Q7Z4R6,Q86YS2,Q8TBK9,ABM83889,ABM87209 Hs.459927,Hs.708083 GDB:127859 MGC104802|TMSA prothymosin alpha|prothymosin, alpha (gene sequence 28) protein-coding 1352168 PTMAP1 prothymosin, alpha pseudogene 1 (gene sequence 26) 1612591 5758 NG_004833,AL662800,AL732442,AL845353,S41692 GDB:128978 pseudo 1605722 PTMAP2 prothymosin, alpha pseudogene 2 (gene sequence 32) 2708378,1612591 5759 NG_002765,AC008629,J04799,S41639,S41653,S41694 GDB:128979 pseudo 1354514 PTMAP3 prothymosin, alpha pseudogene 3 (gene sequence 34) 2708378,1612591 5760 NG_001180,AL121585,J04800,S38640,S41695 GDB:128980 pseudo 1350218 PTMAP4 prothymosin, alpha pseudogene 4 (gene sequence 112) 8592501,2708378,1612591 5761 NG_001181,AC010175,AF257099,J04801,L20955,S38624 AAF71547,AAA36485,AAB08484,Q15254,Q9NYD3 GDB:128981 PTMA pseudo 1347548 PTMAP5 prothymosin, alpha pseudogene 5 1612591 150928 NG_004798,NG_005102,AL354830,S38627 Q5VYG3 GDB:128982 pseudo 1343132 PTMAP6 prothymosin, alpha pseudogene 6 170542 NG_001051,AL121920 GDB:11507549 dJ539E24.2 pseudo 1352728 PTMAP7 prothymosin, alpha pseudogene 7 8592501 326626 NG_002608,AL049872,L21695,AF170294 Hs.459927 pseudo 734337 PTMS parathymosin 1580863 10854063,12852257,12477932,10601862,9382927,8954154,2776490,2537638,2445824,1862085,16189514 5763 NM_002824,AC125494,CH471116,Y13586,BC007616,BC017025,BC128229,BE791815,BM451233,BM550529,M24398 NP_002815,EAW88742,CAA73913,AAH17025,AAI28230,AAA61185,O15256,P20962,ABM85051 Hs.504613 GDB:125555 protein-coding 736479 PTN pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor 1) 1580863 10706604,2270483,11256614,17925408,17908800,17904822,17881084,17823238,17727841,17681947,17607711,17578909,17515817,17443289,17369488,17368428,17360581,17098867,17067552,16985521,16940294,16713569,16513091,16381901,16373346,16199533,16169070,16156786,15986444,15949466,15924335,15908427,15840658,15797857,15684595,15489336,15489334,15383276,15184074,15108072,15001987,14715276,14692702,12690205,12477932,11936877,11895915,11809760,11278720,11076863,11016659,10600521,10224041,9739080,9507007,9299545,8889548,8567685,8484780,8484754,8408430,8175719,7592855,2388713,1768439,1733956,1701634,1464612,1457401 5764 NM_002825,AC018728,AC078842,CH236950,CH471070,S50409,S60110,S60111,AK290488,BC005916,BM968820,BT019692,CR450338,CR596476,CR609152,CR614046,CR619084,CR620419,CR624136,D90226,M57399,X52946 NP_002816,EAL24052,EAW83869,EAW83870,EAW83871,EAW83872,AAB24425,AAB26456,BAF83177,AAH05916,AAV38498,CAG29334,BAA14261,AAA35961,CAA37121,P21246,Q5U0B0,Q6ICQ5,CAL37775 Hs.371249 GDB:132913 HARP|HBGF8|HBNF|NEGF1 pleiotrophin protein-coding 1342790 PTOS1 ptosis, congenital 1 (autosomal dominant) 9150162 5765 GDB:6279920 1315896 PTOV1 prostate tumor overexpressed gene 1 15713644,14657022,12975309,12598323,12477932,11313889,9110174,8619474,15778465 53635 NM_017432,AF238381,CH471177,AF218026,AJ617480,AK057817,AY358168,BC015172,BC042921,BC065486,CR595960,CR607948,CR614735,CR623304,DB496336,U79287 NP_059128,AAF70635,EAW52552,EAW52553,EAW52554,EAW52555,EAW52556,EAW52557,EAW52558,EAW52559,EAW52560,EAW52561,EAW52562,AAG17268,CAE84582,AAQ88535,AAH15172,AAH42921,Q86YD1 Hs.587979 GDB:10796407 ACID2|DKFZP586I111|MGC71475 protein-coding 1352872 PTP4A1 protein tyrosine phosphatase type IVA, member 1 The protein encoded by this gene belongs to a small class of prenylated protein tyrosine phosphatases (PTPs), which contains a PTP domain and a characteristic C-terminal prenylation motif. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. This tyrosine phosphatase is a nuclear protein, but may primarily associate with plasma membrane. The surface membrane association of this protein depends on its C-terminal prenylation. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which implicated its role in the tumorigenesis. Studies in rat suggested that this gene may be an immediate-early gene in mitogen-stimulated cells. 10569806,18038187,17656357,17440740,16957164,16832410,16142898,15571731,15501285,15489334,14643450,14574404,12782572,12516958,12477932,12235145,11971983,11447212,11278933,10940933,10747914,9642300,9633825,9018080,17353931 7803 NM_003463,AF051160,AL135905,CH471143,AJ420505,BC023975,BC045571,BG717869,BI222469,BU632706,CR596545,CR599216,CR602427,CR749458,U48296,U69701 NP_003454,AAC39836,CAC12761,CAI19287,EAW88494,EAW88495,AAH23975,AAH45571,CAH18292,AAB40597,AAB09080,Q93096,ABM81641,ABM84821 Hs.227777,Hs.706850 GDB:9865039 DKFZp779M0721|HH72|PRL-1|PRL1|PTP(CAAX1)|PTPCAAX1 protein-coding 734245 PTP4A2 protein tyrosine phosphatase type IVA, member 2 The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants that encode two distinct isoforms have been described. 9514946,17353931,17440740,16957164,16832410,16710414,16381901,15489336,15489334,14643450,12516958,12477932,12235145,11734337,11447212,11076863,10940933,9018080,8661118,8529999,7490091 8073 NM_080392,NM_080391,AL136115,CH471059,L48722,L48723,L48937,AF208850,AK292703,BC018662,BC070181,BC070182,BI545293,BI552091,CR601100,CR602795,CR603498,L39000,N21082,U14603,U48297 NP_536317,NP_536316,CAI21726,EAX07578,EAX07579,EAX07580,EAX07581,EAX07582,EAX07583,EAX07584,AAB42169,AAB42170,AAB39331,AAF64264,BAF85392,AAH70182,AAB59575,AAA90979,AAB40598,Q0JSV5,Q12974,CAL37487,CAL38409,CAL38433 Hs.470477 GDB:1220165 HH13|HH7-2|HU-PP-1|OV-1|PRL-2|PRL2|PTP4A|PTPCAAX2|ptp-IV1a|ptp-IV1b protein-coding 1318604 PTP4A3 protein tyrosine phosphatase type IVA, member 3 The protein encoded by this gene belongs to a small class of prenylated protein tyrosine phosphatases (PTPs). PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. This class of PTPs contain a PTP domain and a characteristic C-terminal prenylation motif. Studies of this class of PTPs in mice demonstrated that they were prenylated proteins in vivo, which suggested their association with cell plasma membrane. Overexpression of this gene in mammalian cells was reported to inhibit angiotensin-II induced cell calcium mobilization and promote cell growth. Two alternatively spliced variants exist. 1580863 15534108,15489334,15161639,15135076,14704153,14654542,12782572,12516958,12477932,12235145,11598267,11355880,10747914,9633825,17353931,9514946,18078820,18021371,17934070,17717498,17440740,17235563,17018620,16873432,16832410,16505094,16472776,16203771,15788667 11156 NM_032611,NM_007079,AC100803,CH471060,AF041434,AI742376,AJ276554,BC003105,BE778111,BT007303,U87168 NP_116000,NP_009010,EAW92231,AAC29314,CAC81757,AAH03105,AAP35967,AAB47560,O75365 Hs.43666 GDB:9956978 PRL-3|PRL-R|PRL3 protein-coding 1347938 PTP4AP1 protein tyrosine phosphatase type IVA pseudogene 1 15213447,8931711,8661118,8529999 5767 NG_004085,AC067852,U34879 GDB:1220166 h-PRL-1 pseudo 1605721 PTP4AP2 protein tyrosine phosphatase type IVA pseudogene 2 8931711,8661118 5769 NG_001182,AP000911 GDB:1220167 pseudo 1317037 PTPDC1 protein tyrosine phosphatase domain containing 1 The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. 737633,1580863 14702039,12477932 737633 138639 NM_177995,NM_152422,AL360020,CH471089,AK094631,AK094773,AK124912,AK289692,AY171233,BC031279,BC035699,BC051654,BC067120 NP_818931,NP_689635,CAI14621,CAM20720,EAW62875,EAW62876,BAC04391,BAC04421,BAF82381,AAO13168,AAH67120,A2A3K4 Hs.437943 FLJ42922|PTP9Q22 protein-coding 1343988 PTPLA protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. 10644438,12477932,11054553,7829101 9200 NM_014241,AC069542,AF266848,CH471072,AF114494,AW022173,AY455942,BC010353,BC027709,CR608689 NP_055056,AAG10713,EAW86210,EAW86211,AAF21976,AAR22554,AAH10353,Q6JIC5,Q96FW7,Q9HB93,Q9UHX2 Hs.114062 GDB:9955456 CAP protein-coding 1605074 PTPLAD1 protein tyrosine phosphatase-like A domain containing 1 10747961,17353931,18160438,16516406,16303743,15345747,15302935,14702039,12477932,11042152,9373149,8125298,14743216 51495 NM_016395,AC011846,AC027220,CH471082,DQ251107,AF161470,AJ271091,AK027421,AK074857,AK074898,AK225120,AL137412,BC000194,BC009056,BC011443,BC019873,BC035508,BC047685,BC058912,CR600449,H21635 NP_057479,EAW77735,EAW77736,ABB83547,AAF29085,CAB69070,BAB55101,BAC11249,BAC11277,AAH19873,AAH35508,AAH47685,AAH58912,Q9P035 Hs.512973 B-IND1|FLJ90376|HSPC121 protein-coding 1601904 PTPLAD2 protein tyrosine phosphatase-like A domain containing 2 12477932 401494 NM_001010915,AL390882,AL662879,CH471071,BC114215,BX538052,BX648779,CR594128,CR608542 NP_001010915,CAH70162,EAW58626,AAI14216,CAD97990,Q5VWC8 Hs.136247 DKFZp686F01145|DKFZp686G24132 protein-coding 1314901 PTPLB protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b 15024066,16303743,12477932,9110174,8619474 201562 NM_198402,AC020631,AC023165,AC025571,AC084039,AF052159,AK074605,AK289983,AL832532,AY191814,BC016990,BC049369,BC060839,CR613620 NP_940684,BAF82672,AAP20101,AAH49369,AAH60839,Q6Y1H2 Hs.705480 GDB:9955218 protein-coding 1349312 PTPLC protein tyrosine phosphatase-like (proline instead of catalytic arginine), member c 9198 GDB:9955217 1605594 PTPMT1 protein tyrosine phosphatase, mitochondrial 1 16344560,15489334,15247229,12477932 114971 NM_175732,AC090559,CH471064,AF277187,AY333987,BC014048,BC018974,BC020242,BC073798,BC107573,BQ050653,CR602353,DA476984 NP_783859,EAW67905,AAK07545,AAP94732,AAH14048,AAH18974,AAH20242,Q6PJ97,Q8WUK0 Hs.700861,Hs.709363 DUSP23|FLJ46081|MOSP|PLIP|PNAS-129 protein-coding 1343639 PTPN1 protein tyrosine phosphatase, non-receptor type 1 The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. 1625124,1625240,1580595,1580863,2289366,2293185,2290530 12354677,12237455,12176037,12082107,11836311,11833006,11788587,11780052,11756316,11703427,11694501,11579209,11506178,11316810,11163213,11136729,11007774,10940933,10889023,12377785,12365558,10660596,10480872,10350489,9922143,9600099,9566916,9553104,9499405,9418872,9407132,9391040,9355745,9261115,17974954,17643420,17634210,17560463,17509747,17403124,17339316,17333110,17240976,17185494,17135270,17092689,17081983,17081112,17056636,16713994,16677372,16652382,16644720,16505227,16407290,16344560,16289152,16249458,16115959,15998263,15919835,15919813,15894168,15866871,15737620,15715684,15592455,15588985,15504985,15504984,15489334,15258570,15235769,15189365,15097232,15039022,15031294,14976221,14722096,14514610,12857726,12802339,12802338,12634852,12573287,12554649,12547827,12504077,12477932,12468645,12446583,12424235,12414790,12388170,11106648,12907755,16291744,17159996,10748206,18253097,18077048,8999839,8940134,8940099,8826975,8647855,8621392,8491187,8389479,8128219,7935344,7693694,7545675,7544790,7540771,7514173,7510677,2546149,2164224,2157211,1739967,16189514,7539106 1625124,1625240,1580595,2289366,2293185,2290530 5770 NM_002827,AL034429,AL133230,AY029236,CH471077,M33684,AK290638,AU117677,BC015660,BC018164,BT006752,M31724,M33689 NP_002818,CAC00618,AAK31734,EAW75624,EAW75625,EAW75626,AAA60158,BAF83327,AAH15660,AAH18164,AAP35398,AAA60223,AAA60157,P18031,Q96QT9 Hs.417549 GDB:126728 PTP1B protein-coding 731746 PTPN11 protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. 1581292,1601571,1580863,2289807,1641809,2293185,1299201,2290530 17453145,17403678,17339163,17330262,17272397,17235629,17214991,17213291,17211494,17211446,17185494,17177198,17143285,17053061,17052965,17028265,17020470,10734310,14560030,14665621,15574420,7681589,9658397,9792637,10209036,1280823,9054388,18331608,18246201,18241070,17962719,17942397,17910045,17875892,17717529,17672918,17664338,17561098,17546245,17515436,17497712,16920701,16914719,16905534,16825188,16762922,16684964,16679933,16598312,16533526,16523510,16518851,16498234,16488201,16380919,16360206,16358218,16354697,16344560,16339483,16306077,16250012,16208280,16094384,16053901,16032704,16030196,15987685,15985475,15985432,15956085,15951569,15951301,15948193,15940693,15928039,15888547,15834506,15747776,15725481,15723289,15708852,15690106,15644411,15592455,15563458,15556604,15539800,15521065,15520399,15489334,15389709,15385933,15384080,15282682,15240615,15187115,15121796,15001945,11414741,14991917,14982869,14961557,14701753,14644997,14522994,12960218,12959980,12796776,12774026,12752577,12739139,12717436,12707331,12676785,12634870,12552462,12543077,12531430,12529711,12529707,12522270,12477932,12403768,12399420,12384786,12370245,12325025,12270932,12177051,12176037,12161596,12161469,12115002,12108545,12070037,12060651,12058348,11992261,11986327,11956229,11940581,11896619,11812650,11806999,11786908,11781100,11743164,11739737,11714803,11704759,11602579,11594781,11544253,11491537,11489943,11466412,11447289,11433379,11432792,11389028,11323411,11287610,11278955,11223155,11134009,11036942,11018044,10991949,10976913,10962556,10949653,10946280,10940933,10880513,10800945,10790433,10747947,10681592,10681522,10671568,10660620,10655584,10650943,10617656,10499918,10457220,10449753,10212213,10206955,10082579,10068651,9918857,9867848,9824671,9756938,9632781,9565634,9535915,9528781,9491886,9485206,9344843,9285412,9254654,9195977,9195950,10521483,8041791,7935386,7894486,7691811,7681217,7673163,7642582,7589239,7559603,7523381,7522233,7493946,1370651,1281790,12824191,9188788,9162089,9110989,9110174,9062191,9029147,8995399,8986614,8959326,8943348,8943344,8912646,8910607,8810330,8766558,8702859,8662733,8639815,16189514,15128762,16729043,9422771,9847309,8879209,1470,11328818,15856031,12582165,9600074,8195176,8890167,8638161,8619474,8530013,8505282,8216283,8183573,8135823,11477068,7688466 1581292,1601571,2289807,1641809,2293185,1299201,2290530 5781 NM_002834,NG_007459,AC004086,AC004216,CH471054,AK289854,AU123593,BC007869,BC008692,BC025181,BC030949,BF515187,BT007106,BX537632,CR597346,D13540,L03535,L07527,L08807,S78088,U79291,X70766 NP_002825,EAW98011,EAW98012,BAF82543,AAH08692,AAH25181,AAH30949,AAP35770,BAA02740,AAA36611,AAA17022,AAB21148,CAA50045,Q06124,Q16344,Q96I26 Hs.506852,Hs.646231 GDB:137093 BPTP3|CFC|MGC14433|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2 protein tyrosine phosphatase, non-receptor type 11 protein-coding 1346224 PTPN12 protein tyrosine phosphatase, non-receptor type 12 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may be related to protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of oncogene c-ABL, thus may play a role in oncogenesis. This PTP was shown to interact with, and dephosphorylate, various of cytoskeleton and cell adhesion molecules, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin, which suggested its regulatory roles in controlling cell shape and mobility. 1580863 11314030,11163214,11158295,10940933,10625692,10400703,10400685,10092676,10085298,9920935,9857189,9847074,9804817,9748319,9497381,9422760,9135065,8887669,8626541,8349645,7929214,7520867,7509295,1932742,9285683,8454633,1472029,17608818,17329398,17130234,17081983,16964243,15831474,15588985,15489334,15231748,15122254,14707117,12853948,12714323,12690205,12674328,12665801,12477932,12231407,12052829,11971877,11950600,11731619,11711533,11432829,11337490 5782 NM_002835,AC006451,CH236949,CH471091,AB209524,AK289573,BC026004,BC050008,D13380,M93425,S69182,S69183,S69184 NP_002826,AAQ96881,EAL24198,EAW77036,EAW77037,BAD92761,BAF82262,AAH50008,BAA02648,AAA36529,AAB30045,AAB30046,AAB30047,Q05209,Q16128,Q16129 Hs.61812 GDB:136846 PTP-PEST|PTPG1 protein-coding 1349944 PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large protein that possesses a PTP domain at C-terminus, and multiple noncatalytic domains, which include a domain with similarity to band 4.1 superfamily of cytoskeletal-associated proteins, a region consisting of five PDZ domains, and a leucine zipper motif. This PTP was found to interact with, and dephosphorylate Fas receptor, as well as IkappaBalpha through the PDZ domains, which suggested its role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathway. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. 1580863 10918185,17657516,7929060,18195016,18038312,17982484,17638892,17240990,16888780,16572203,16489062,16306044,15894934,15782144,15663004,15611135,15489334,15371306,14702039,14596806,14516276,12870871,12839623,12724420,12477932,12436199,12354757,12095257,11959286,11884147,11696979,11356191,11106428,10951583,10826496,10704206,10660140,10544233,10526152,10400701,9920925,9882613,9835052,9305890,9261095,9079683,8824809,8287977,8071359,7536343,14743216 5783 NM_080683,NM_006264,NM_080684,AC097657,AC105413,AC110076,AF101267,CH471057,AB208904,AF233323,AK056151,BC039610,BC139915,BC140777,BX647553,D21209,D21210,D21211,L34583,U12128,U12131,U12132,NM_080685,X79676,X80289 NP_542416,NP_542414,NP_006255,NP_542415,AAY40972,EAX05965,EAX05966,EAX05967,EAX05968,BAD92141,AAF63474,AAH39610,AAI40778,CAH10380,BAA04750,BAA04751,BAA04752,AAC41755,AAB60339,CAA56124,CAA56563,Q12923,Q4W5F5,Q59H55,Q6AWB9,Q9UDA8 Hs.436142 GDB:306348 DKFZp686J1497|FAP-1|PNP1|PTP-BAS|PTP-BL|PTP1E|PTPL1|PTPLE protein-coding 1317339 PTPN14 protein tyrosine phosphatase, non-receptor type 14 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. The specific function of this PTP has not yet been determined. 1580863 7733990,17081983,16534812,15324660,14702039,12808048,12477932,10934049,10600535,10400706,10212280,7545953 5784 NM_005401,AL445305,AL592216,AL603838,AL929236,CH471100,Z23491,AK090596,AK291641,AW192897,BC017300,BC101754,BC104803,X82676 NP_005392,CAH70919,EAW93351,BAF84330,AAH17300,AAI01755,AAI04804,CAA57993,Q15678,Q5VTH8,Q6PJC3 Hs.696573 GDB:454485 MGC126803|PEZ|PTP36 protein-coding 1350462 PTPN17 protein tyrosine phosphatase, non-receptor type 17 5785 GDB:4642749 1323122 PTPN18 protein tyrosine phosphatase, non-receptor type 18 (brain-derived) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This gene was found to be expressed in brain, colon tissues, and several different tumor-derived cell lines. The bilogical function of this PTP has not yet been determined. 1580863 8950995,16303740,16094384,15951569,15588985,14679216,14660651,12554790,12477932,11971877,11163214,11158295,9804817,9422760,9265651 26469 CH471263,NM_014369,AC132479,BC024280,BC031076,BC041562,BC052800,BI261717,CR608036,CR608379,CR609214,CR616748,CR623157,X79568 NP_055184,AAY24077,EAW55617,EAW55618,EAW55619,EAW55620,EAW55621,AAH24280,AAH41562,AAH52800,CAA56105,Q53P42,Q7Z637,Q8TA96,Q99952 Hs.591549 GDB:10795928 BDP1 protein-coding 733575 PTPN2 protein tyrosine phosphatase, non-receptor type 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Three alternatively spliced variants of this gene, which encode isoforms differing at their extreme C-termini, have been described. The different C-termini are thought to determine the substrate specificity, as well as the cellular localization of the isoforms. Two highly related but distinctly processed pseudogenes that localize to distinct chromosomes have been reported. 1580863,2290530 10488121,9373149,9261175,8325634,8125298,7593185,2164224,1849097,1731319,15778465,16189514,9488479,12907755,16293614,2546150,18438405,17554261,16595549,15696169,15632081,15592458,15588985,15539083,15509512,15489334,15192089,15030318,14966296,14600148,12847239,12612081,12477932,12459463,12359225,12171910,12138178,11909529,11907034,11773439 2290530 5771 NM_080423,NM_002828,AP001077,AP002449,AP005482,CH471113,AB209569,AK225706,AK290649,AK292570,AW592324,BC008244,BC016727,NM_080422,BG699440,CR604688,CR614824,CR615196,CR621000,M25393,M80737,M81478 NP_536347,NP_536348,NP_002819,EAX01532,EAX01533,EAX01534,EAX01535,EAX01536,EAX01537,EAX01538,EAX01539,BAD92806,BAF83338,BAF85259,AAH08244,AAH16727,AAA65997,P17706,Q59F91,Q96AU5 Hs.654527 GDB:128098 PTPT|TC-PTP|TCELLPTP|TCPTP protein-coding 1344444 PTPN20A protein tyrosine phosphatase, non-receptor type 20A The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more centromeric copy, PTPN20A. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. 15790311,12477932 653129 NM_001042397,NM_001042396,NM_001042395,NM_001042387,NM_001042392,NM_001042394,NM_001042391,NM_001042393,NM_001042390,NM_001042389,NG_005598,AL450334,AL672108,AL050040,AY704141,AY704142,AY704143,AY704144,AY704145,AY704146,AY704147,AY704148,AY704149,AY704150,AY704151,AY704152,AY704153,AY704154,AY704155,AY704156,AY704157,AY704158,AY753191,BC036539,BC093750,BC113473,BX648913,CR933668 NP_001035856,NP_001035855,NP_001035854,NP_001035846,NP_001035851,NP_001035853,NP_001035850,NP_001035852,NP_001035849,NP_001035848,CAI15684,CAI15685,CAI15686,CAB43248,AAW28780,AAW28781,AAW28782,AAW28783,AAW28784,AAW28785,AAW28786,AAW28787,AAW28788,AAW28789,AAW28790,AAW28791,AAW28792,AAW28793,AAW28794,AAW28795,AAW28796,AAW28797,AAW88572,AAH93750,AAI13474,CAI45965,Q4JDL3 Hs.440733,Hs.499552 MGC142033|bA142I17.1 protein-coding 1353047 PTPN20B protein tyrosine phosphatase, non-receptor type 20B The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes and several are mutated in human diseases. Chromosome 10q contains a segmental duplication resulting in multiple copies of the protein tyrosine phosphatase, non-receptor type 20 gene. The two nearly identical copies are designated as PTPN20A and PTPN20B. A third copy is only partially duplicated and contains a pseudogene, designated as PTPN20C. This gene encodes the more telomeric copy, PTPN20B. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. 15790311,12477932 26095 NM_001042364,NM_001042363,NM_015605,NM_001042360,NM_001042362,NM_001042359,NM_001042361,NM_001042358,NM_001042357,AL358791,BX005072,CH471251,AL050040,AY704141,AY704142,AY704143,AY704144,AY704145,AY704146,AY704147,AY704148,AY704149,AY704150,AY704151,AY704152,AY704153,AY704154,AY704155,NM_001042365,AY704156,AY704157,AY704158,AY753191,BC036539,BC093750,BC113473,BU567804,BX648913,CR933668 NP_001035824,NP_001035823,NP_001035822,NP_056420,NP_001035819,NP_001035821,NP_001035818,NP_001035820,NP_001035817,NP_001035816,CAI14088,CAI14089,CAI14090,CAI23640,CAI23641,CAI23642,EAW50662,CAB43248,AAW28780,AAW28781,AAW28782,AAW28783,AAW28784,AAW28785,AAW28786,AAW28787,AAW28788,AAW28789,AAW28790,AAW28791,AAW28792,AAW28793,AAW28794,AAW28795,AAW28796,AAW28797,AAW88572,AAH93750,AAI13474,CAI45965,Q4JDK3,Q4JDL3,Q5H9Q9,Q5SRF2,Q5SWJ0,Q5T1G4,Q9Y406,AAI41461 Hs.499552 DKFZp566K0524|DKFZp781P23155|bA42B19.1 protein-coding 1351239 PTPN20C protein tyrosine phosphatase, non-receptor type 20C 653045 NG_005691,AC013284,AL603966 CAI12337 bA164N7.3 pseudo 734205 PTPN21 protein tyrosine phosphatase, non-receptor type 21 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. 1580863 7519780,16918960,16344560,15143158,11013262,10585123,9685376,7838537 11099 NM_007039,AL049834,AL162171,AL353786,CH471061,AI800682,BM930068,CR593033,DA860560,X79510 NP_008970,CAD19000,EAW81382,EAW81383,CAA56042,Q16825,Q8WX29 Hs.437040 GDB:9956481 PTPD1|PTPRL10 protein-coding 1317504 PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) This gene encodes a protein tyrosine phosphatase which is expressed primarily in lymphoid tissues. This enzyme associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. 1580863 16461343,10068674,18489434,18474664,18466535,18466531,18466515,18466513,18466483,18466472,18466461,18462498,18426414,18398946,18375974,18375541,18341666,18310307,18305142,18301444,18292987,18252906,18248681,18240242,18204446,18200060,18194365,18179648,18156150,18078626,18065500,18056891,18056643,18037273,18028494,18001305,17982455,17961971,17961776,17941906,17934143,17931634,17878369,17868256,17804836,17729039,17697317,17696275,17666451,17666450,17665434,17661906,17660222,17660221,17624340,17600378,17579671,17553139,17493151,17472988,17452059,17436241,17341507,17334650,17259401,17237219,17223967,17170052,17159887,17158136,17148556,17135225,17133608,17133579,17130532,17092257,17066073,17054449,17034023,17003357,17000021,16893384,16870103,16868974,16829308,16764945,16760194,16750991,16697661,16690758,16690411,16671954,16671953,16635271,16614815,16539704,16507123,16507117,16490755,16470599,16464986,16456530,16437561,16391555,16385499,16380915,16339849,16322396,16320352,16279844,16279843,16277672,16273109,16229750,16185328,16185327,16175503,16164701,16163373,16112033,16107870,16098055,16078327,16052563,16052172,16015369,15986374,15943829,15934099,15933742,15883854,15875058,15790351,15759012,15734872,15674368,15641088,15641066,15620463,15531553,15504986,15273934,15208781,15004560,12764153,12477932,11882361,10940933,9582365,1373816 26191 NM_015967,NM_012411,AL137856,CH471122,AF001846,AF077031,AF150732,BC017785,BC071670,U69700 NP_057051,NP_036543,CAI19068,CAI19069,EAW56573,EAW56574,EAW56575,EAW56576,AAD00904,AAD27764,AAF67472,AAH17785,AAH71670,AAB09079,Q5TBC0,Q5TBC8,Q6IPX8,Q8WVM1,Q93095,Q9P0U2,Q9Y2R2 Hs.535276 GDB:11507553 LYP|Lyp1|Lyp2|PEP|PTPN8 protein-coding 1348801 PTPN23 protein tyrosine phosphatase, non-receptor type 23 1580863 17959146,16720300,16408268,16344560,15489334,14702039,12477932,12168954,11095967,10819331 25930 NM_015466,AC099778,CH471055,AB025194,AB040904,AF169350,AF290614,AK055157,AK289502,AL110210,BC004881,BC020380,BC027711,BC089042,BT009758,DA093189 NP_056281,EAW64822,EAW64823,EAW64824,BAB19280,BAA95995,AAD50276,AAK28025,BAF82191,CAB53676,AAH04881,AAH27711,AAH89042,AAP88760,Q9H3S7 Hs.25524 GDB:11507555 DKFZP564F0923|HD-PTP|HDPTP|KIAA1471|PTP-TD14 protein-coding 1348879 PTPN2P1 protein tyrosine phosphatase, non-receptor type 2 (pseudogene 1) 8325634 5772 GDB:127982 1352343 PTPN2P2 protein tyrosine phosphatase, non-receptor type 2 (pseudogene 2) 8325634 5773 XM_301455 GDB:137194 1322781 PTPN3 protein tyrosine phosphatase, non-receptor type 3 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. 1580863 1648725,17947517,17921143,17588219,17166906,16930557,15588985,14672952,12477932,12207026,10940933,10364224,9341175,8253532,7874267,1626183,15778465 5774 BC033716,BC063287,BC126117,BX648253,BX648735,CR749204,DQ104439,M64572,S39392,S76309,W15441,NM_002829,AL162733,AL359963,AL450025,CH471105 AAH33716,AAH63287,AAI26118,CAH18062,AAZ20185,AAA35647,AAB22439,AAB33583,P26045,Q45VJ3,Q5VX10,Q68E08,Q6P4R3,Q8N4S3,NP_002820,EAW59045,EAW59046,EAW59047 Hs.436429 GDB:131386 DKFZp686N0569|PTPH1 protein-coding 1316480 PTPN4 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. 1580863 1648233,16169070,15489334,12477932,11054567,10940933,10748123,8917530,8910369 5775 NM_002830,AC016691,AC069154,AC092455,AC104061,AC104668,AC116632,CH471103,BC010674,BX648614,M68941 NP_002821,AAX88858,AAX82012,AAY24016,AAY14805,EAW95231,EAW95232,AAH10674,AAA36530,P29074,Q4ZG31,Q53Q76,Q53QV5,Q580X3,Q9UDA7 Hs.469809 GDB:131387 PTPMEG|PTPMEG1 protein-coding 736589 PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 7490079,2263249,16441242,14702039,12477932,11983687,9857190,9272866,1714595 84867 NM_006906,NM_001039970,NM_032781,AC103974,CH471064,U27831,AK027333,AK055450,AK090923,AK127312,AL832541,BC039897,BC046435,BC064807 Q6P1Z2,Q86TL3,Q86TL6,Q8NDP8,Q96K95,P54829,NP_008837,NP_001035059,NP_116170,EAW68363,EAW68364,EAW68365,EAW68366,EAW68367,EAW68368,AAA87555,BAB55043,BAC03548,CAD38632,AAH39897,AAH46435,AAH64807 Hs.79092 GDB:131388 FLJ14427|PTPSTEP|STEP protein tyrosine phosphatase, non-receptor type 5 protein-coding 734188 PTPN6 protein tyrosine phosphatase, non-receptor type 6 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. 1580863,2290530 10660620,1732748,7781604,10506221,10497187,18209728,18174230,18086677,17579069,17561098,17404032,17272397,14500659,12917349,12832410,12796776,12791978,12774026,12734331,12705885,12646642,12591278,12571228,12482860,12477932,12468645,12468540,12459556,12438221,12393607,12361947,12198247,12176909,12176037,12145687,12145285,12130517,11987243,11986327,17239936,17218319,17143285,17142110,17079228,17046078,16501054,16482509,16453023,16344560,16326706,15870198,15831474,15746253,15701718,15588985,15579525,15574429,15557341,15549731,15489334,15456853,15339845,15269224,15197735,15187115,15184070,15070900,14976049,14691303,14672952,14662855,14630083,14551136,17227821,11964172,11920268,11907066,11895767,11858824,11826756,11812650,11786908,11723252,11714803,11544253,11511520,11489943,11414741,11356834,11337495,11328818,11294838,11278955,11266449,11178971,11162587,11160222,11042209,11027300,11001933,10940933,10903736,10903717,10835420,10800945,10790433,10764762,10747947,10660565,10640770,10585470,10574931,10521452,10506573,10488096,10458769,10457220,10229828,10228003,10206955,10082557,10072516,9973385,9890995,9867848,9842885,9813145,9774457,9774441,9765283,9740800,9733788,9712903,9632768,9632636,9590210,9531263,9528781,9520455,9507021,9485206,9482905,9405464,9379041,9373149,9368621,9305905,9285411,9261115,9254654,9244303,9211920,9162089,9151699,9074930,9064344,9045636,9029147,8943354,8943344,8790380,8780698,8760799,8692915,8647855,8638162,8632004,8574854,8541543,8524272,8246974,8125298,8114715,7889566,7716523,7684496,7665165,7629131,7618087,7539106,7539038,7518460,7512963,1736296,1652101,1639416,16189514,12882840,9788431,9285412 2290530 5777 AK290421,BC002523,BC007667,BG754792,BM006699,BM742181,BT007390,CR590933,CR986427,DA431502,DA868001,DC297194,M74903,M77273,AK223629,NM_002831,NM_080549,AB079851,CH471116,U15528,U15536,U15537,U47924,AF178946,NM_080548 BAD97349,BAF83110,AAH02523,AAH07667,AAP36054,AAA35963,AAA36610,P29350,Q53EL0,NP_536858,NP_002822,NP_536859,BAC81774,BAC81775,EAW88700,EAW88701,EAW88702,EAW88703,EAW88704,AAA82879,AAA82880,AAB51322,AAB51323,AAD53317,Q53XS4,Q9UK67,ABM82872,ABM86059 Hs.63489 GDB:131389 HCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1 protein-coding 1605720 PTPN7 protein tyrosine phosphatase, non-receptor type 7 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The noncatalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1530918,7545170,16441242,16226275,15489334,12592337,12477932,12161469,12058348,12056917,11704759,10940933,10702794,10559944,10415025,10206983,9624114,9373149,8309248,8125298,1510684,1370651,16189514 5778 NM_002832,NM_080588,AL592300,CH471067,AF394064,AK127214,AK225920,BC001746,BG340453,BT009848,D11327,M64322,S78090 NP_002823,NP_542155,CAI13108,CAI13111,EAW91400,EAW91401,EAW91402,EAW91403,EAW91404,EAW91405,AAM69538,AAH01746,AAP88850,BAA01946,AAA59531,P35236,Q5SXP9,Q8NFX3 Hs.402773 GDB:135507 BPTP-4|HEPTP|LC-PTP|LPTP|PTPNI protein-coding 1353327 PTPN9 protein tyrosine phosphatase, non-receptor type 9 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. 1580863 1557404,12907755,17387180,16679294,16189514,15489334,15322554,14662869,12920026,12477932,12112018,11711529 5780 NM_002833,AC105036,AC105137,CH471136,BC010863,BC071574,BT007405,CR606925,M83738 P43378,Q53XR9,Q6IQ43,ABM81912,NP_002824,EAW99247,EAW99248,AAH10863,AAH71574,AAP36073,AAA60226 Hs.445775 GDB:132399 MEG2|PTPMEG2 protein-coding 1354355 PTPNS1L protein tyrosine phosphatase, non-receptor type substrate 1-like 10591208,9847074 23755 NG_002457,AC004832 GDB:10795331 pseudo 736543 PTPRA protein tyrosine phosphatase, receptor type, A The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. 1580863 2169617,18211905,18183590,17212655,17081983,16338072,15951569,15592455,15588985,15489334,14702039,14592422,14555984,12626515,12592337,12582170,12477932,12468645,12376545,11923305,11796915,11780052,11676480,11498265,11496365,11436129,11357934,11099722,11042685,10893241,10787408,10777529,10748206,10698938,10562275,9878055,9822658,9535845,9357975,9261115,9183007,8980254,8670803,8647855,7691597,7518772,2175890,2172030,2170109,2166945,1639427,1611910,1383828,9263011,16189514,11401727 5786 X54130,X54890,NM_002836,NM_080840,NM_080841,AL121905,AL161656,CH471133,AB209702,AI284972,AK090743,AK290233,BC027308,BI597187,BQ213974,BX571753,CR595941,CR623898,M34668,X53364 CAA38065,CAA38662,P18433,Q59EV9,Q5JWG0,Q5JWG1,Q5JWG2,Q5JWG3,ABM82081,ABM85260,CAA37447,NP_002827,NP_543030,NP_543031,CAC10336,CAC10337,CAI21708,CAI21709,CAI21710,CAI21711,EAX10561,EAX10562,EAX10563,BAD92939,BAF82922,AAH27308,CAE11878,AAA36528 Hs.269577 GDB:126732 HEPTP|HLPR|HPTPA|HPTPalpha|LRP|PTPA|PTPRL2|R-PTP-alpha|RPTPA protein-coding 1314242 PTPRB protein tyrosine phosphatase, receptor type, B The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12907755,2170109,18361428,17081983,16344560,15638728,15144186,14702039,12700241,12615970,12477932,12234928,12068634,11313993,10769382,10706604,10557082,9584610,9118959,9049255,7628014,7575486,2169617,1645282,1486802,1373652,9263011 5787 NM_002837,AC025569,AC083809,CH471054,AK023720,AK096717,AK097371,AK126121,AK128562,BC051329,BC101679,BC113463,BE042873,BX647238,BX648245,BX648771,CR749546,DA883934,X54131,NM_001109754 NP_001103224,NP_002828,EAW97253,EAW97254,BAC86450,BAC87502,AAH51329,AAI01680,AAI13464,CAH10386,CAE46198,CAH18347,CAA38066,P23467,Q14D85,Q3MIV7,Q68D73,Q6AWC4,Q6MZF6,Q6ZR19,Q6ZTX7,Q86VA4 Hs.434375 GDB:127352 DKFZp686E2262|DKFZp686H15164|FLJ44133|HPTP-BETA|HPTPB|MGC142023|MGC59935|PTPB|R-PTP-BETA|VEPTP protein-coding 736371 PTPRC protein tyrosine phosphatase, receptor type, C The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus belongs to receptor type PTP. This gene is specifically expressed in hematopoietic cells. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Four alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. 1358566,1580863,1599983 1970422,14625311,2845400,10358156,1793833,9197241,15275963,14636588,14631169,14565647,14525771,12880639,12864992,12820694,12716971,12633939,12626536,12618866,12595907,12589045,12589038,12574355,12560083,12556471,12519755,12499376,12477932,12430875,12393728,12386161,12376545,12354383,12147336,12100025,12073144,12028593,12022705,12008046,11994288,11975983,11909961,11877294,11862398,11841494,11778694,11564800,11548742,11528386,11369760,11254687,11201744,11827988,18312479,18174230,17897956,17823079,17803443,17692374,17656643,17635802,17591854,17524482,17378731,17242371,17172930,17122895,16999868,16998493,16955142,16857986,16538473,16524887,16505159,16503409,16393978,16378074,16360841,16344560,16332974,16269626,16247487,16172127,15963758,15960938,15946252,15808544,15687496,15684325,15626731,15603882,15584483,15548260,15333587,15314282,15302935,15240561,15231748,15214936,15057492,15018649,15014144,14983037,14979481,14726805,14684825,14641523,11145714,11101853,10921916,10702677,10700239,10683443,10490978,10473580,10415030,10330160,10228003,10066810,9973453,9624153,9535845,9403695,9368621,9148925,8980254,8955171,8703037,8663450,8576115,8570203,8557683,8537410,8473339,8157290,7961877,7737297,7537381,7526385,7516335,2971730,2956090,2853967,2824653,2550143,2531281,2524382,2169617,1976695,1834739,1695146,1680916,1655467,1648262,1373652,1355979,11804554,7539755 1358566,1599983 5788 NM_080922,NM_080921,NM_080923,NG_007730,AF492459,AL157402,AL355988,AY539659,AY539667,AY539675,AY539683,AY539691,NM_002838,DA670254,DA948670,Y00062,Y00638,AY539699,CH471067,M23463,M23492,M29253,X14896,AK130573,AK292131,AY429565,AY567999,BC014239,BC017863,BC031525,BC121086,BC121087,BC127656,BC127657,BC148257,CR621867 NP_002829,NP_563579,NP_563578,NP_563580,AAM12758,CAI15639,CAI15640,CAI15641,CAI15642,CAI15643,CAI15644,CAI15645,CAI15646,CAI15647,AAS46962,AAS46922,AAS46930,AAS46938,CAA68269,CAA68669,P08575,Q0VAE8,Q5T5R0,Q5T5R1,Q5T5R2,Q5T9L9,Q5T9M0,Q5T9M2,Q5T9M3,Q5T9M4,Q5T9M5,Q6LDN6,Q6PJK7,Q6Q1P2,Q6QIM3,Q6QIN1,Q6QIN9,Q6QIQ5,Q6QIR3,Q8TD79,Q9H3X6,AAS46946,AAS46954,EAW91300,EAW91301,EAW91302,EAW91303,AAG26082,AAD15273,AAA59497,BAF84820,AAS75254,AAH14239,AAH17863,AAI21087,AAI21088,AAI27657,AAI27658,AAI48258 Hs.654514 GDB:119768 B220|CD45|CD45R|GP180|LCA|LY5|T200 protein-coding 1349193 PTPRCAP protein tyrosine phosphatase, receptor type, C-associated protein The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. 1580863 7961877,11390434,15489334,15372250,12595907,12477932,11250890,10602003,8954783,8537410 5790 NM_005608,AP003419,CH471076,X97267,BC113859,BC114467,CR457429,CR592526,CR622472,X81422 NP_005599,EAW74622,CAA65922,AAI13860,AAI14468,CAG33710,CAA57182,Q14761 Hs.155975 GDB:1211179 CD45-AP|LPAP|MGC138602|MGC138603 protein-coding 1348083 PTPRD protein tyrosine phosphatase, receptor type, D The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chick and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple tissue specific alternatively spliced transcript variants of this gene have been reported. 1580863 7896816,18414509,18050303,17420988,16114034,14759258,12570871,12477932,12376545,10777529,9624153,9566880,8954782,8524829,8355697,7665159,2170109 5789 NM_001040712,NM_130393,NM_130392,NM_002839,AL133479,AL135790,AL137069,AL137125,AL137851,AL157826,AL353638,AL353733,AL354722,AL356054,AL356584,AL390723,AL391864,AL441884,AL445926,AL451130,AL513422,AL583805,AL590307,AL590397,AL591133,AL591622,AL596451,AL669908,CH471071,AB208869,AB211400,NM_130391,BC028038,BC037801,BC045786,BC106713,BC106714,BC106715,BC106716,L38929,X54133 NP_569075,NP_001035802,NP_569077,NP_569076,NP_002830,EAW58718,EAW58719,EAW58720,EAW58721,EAW58722,EAW58723,EAW58724,BAD92106,BAE79816,AAI06714,AAI06715,AAI06716,AAI06717,AAC41749,CAA38068,P23468,Q2HXI4,Q3KPI9,Q3KPJ0,Q3KPJ1,Q3KPJ2,Q59H90,Q5VVL9 Hs.446083 GDB:131384 HPTP|HPTP-DELTA|HPTPD|MGC119750|MGC119751|MGC119752|MGC119753|PTPD|R-PTP-DELTA protein-coding 1346203 PTPRE protein tyrosine phosphatase, receptor type, E The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Two alternatively spliced transcript variants of this gene have been reported, one of which encodes a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; Another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokines induced SATA signaling, as well as the activation of voltage-gated K+ channels. 1580863 2170109,18093973,15845350,15738637,15588985,15522235,15489334,15390114,14980517,14702039,12861030,12754301,12615930,12477932,12376545,12193229,12121439,10980613,10921884,10859312,10490839,8889548,8838320,8786123,8618876,8595895,8586417,7835887,7566098 5791 NM_006504,NM_130435,AL158166,AL390236,CH471066,AA362195,AF406557,AJ315969,AJ430580,AK001335,AK026334,AK056111,AK290414,AK291828,AL832042,BC031078,BC050062,BC071573,BE246451,BI559814,BI910569,BM970048,BQ006544,BX648180,D20432,H17674,U36623,X54134 NP_006495,NP_569119,CAH73171,CAH73172,CAH73173,CAH73174,EAW49180,EAW49181,EAW49182,EAW49183,EAW49184,EAW49185,EAW49186,AAL01375,CAC86583,CAD23182,BAF83103,BAF84517,CAH10411,AAH50062,AAC50324,CAA38069,P23469,Q13345,Q5VWH3,Q5VWH4,Q5VWH5,Q5VWH6,Q69YS2,Q8TE48,Q96P81 Hs.127022 GDB:131385 DKFZp313F1310|HPTPE|PTPE|R-PTP-EPSILON protein-coding 734202 PTPRF protein tyrosine phosphatase, receptor type, F The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. 1625124,1580863,1642727,1642732,1642735,1642723,1642733,2293185 8995282,7665159,2972792,17803936,17419996,17259169,16478662,16335952,15896785,15588985,15491607,15231748,15150650,14702039,12496362,12477932,12376545,12176037,12095414,11931740,11309481,11158333,11121408,10822386,10777529,10660596,10395287,10365916,10320483,10187801,10079136,9647658,9624153,9245795,8917069,8732688,8643598,8621380,8524829,7929208,7796809,7558042,2554325,1695146,1486801,1321126,12629171,11245482 1625124,1642727,1642732,1642735,1642723,1642733,2293185 5792 NM_002840,NM_130440,AC092815,AL583862,CH471059,AB177856,AB177857,AB209478,AK023775,AK125325,AK127007,AK127475,BC012102,BC029466,BC048416,BC048768,BI711143,BX537361,DQ234351,Y00815 NP_002831,NP_569707,CAI14894,CAI14895,CAI14896,CAI14897,EAX07086,EAX07087,EAX07088,EAX07089,BAD66834,BAD66835,BAD92715,AAH12102,AAH48416,AAH48768,CAD97607,ABB29980,CAA68754,P10586,Q308M3,Q59FI2,Q5T021,Q5T022,Q5W9G2,Q5W9G3,Q6PJS2,Q7Z3X4,Q86WS0,Q86XY3 Hs.272062 GDB:120138 FLJ43335|FLJ45062|FLJ45567|LAR protein-coding 735532 PTPRG protein tyrosine phosphatase, receptor type, G The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. 1580863 8382771,17963294,16335952,15897551,14676845,12553013,12477932,11859871,10521598,10376795,8833149,7683956,2170109,2169617,1711217 5793 NM_002841,AC004695,AC092502,AC096919,AC098482,AC103587,AC103921,AC104849,AC105939,CH471055,U46089,U46116,AB209871,AI872451,BC036018,BC047734,BC048961,BC140904,CR605063,CR749269,L09247,X54132 NP_002832,AAC16478,EAW65397,AAC50439,BAD93108,AAH36018,AAH47734,AAH48961,AAI40905,CAH18125,AAA60224,CAA38067,O60420,P23470,Q49A02,Q86TJ8 Hs.654488 GDB:127351 HPTPG|PTPG|R-PTP-GAMMA|RPTPG protein-coding 1345629 PTPRH protein tyrosine phosphatase, receptor type, H The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. 1580863 15302935,14702039,12907755,12101188,12879010,12477932,11435690,11278335,8294459 5794 NM_002842,AC010327,AF275131,CH471135,AK097257,BC111715,BC111716,D15049 NP_002833,AAF91411,EAW72348,AAI11716,AAI11717,BAA03645,Q9HD43 Hs.179770 GDB:305504 FLJ39938|MGC133058|MGC133059|SAP-1 protein-coding 736433 PTPRJ protein tyrosine phosphatase, receptor type, J The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. 1357414,1580863,1641809 10821867,7937872,16778204,16682945,16582570,16335952,16000320,15384144,15378013,15231692,15123617,14709717,12685844,12477932,12403354,12370829,12089527,12062403,11259588,10914487,10648410,10599888,10473595,9759839,9531590,9115287,7994032 1357414,1641809 5795 DR007037,U10886,NM_001098503,AC026975,AC103828,AF387844,CH471064,AI218139,AL359057,BC019824,BC063417,BC098447,D37781,NM_002843 BAA07035,AAB36687,Q12913,Q6P4H4,Q9NPR5,Q9UDA9,NP_002834,NP_001091973,AAM69432,EAW67873,EAW67874,EAW67875,EAW67876,CAB94390,AAH63417 Hs.318547 GDB:385040 CD148|DEP1|HPTPeta|R-PTP-ETA|SCC1 protein-coding 1354114 PTPRK protein tyrosine phosphatase, receptor type, K The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. 1580863 9047348,18276111,17720884,16849327,16672235,16263724,15383276,14718574,12794170,12477932,11710941,9722959,8941358,8663237,8264577,7782276 5796 CH471051,AB209670,AF533875,BC063596,BC140775,BI755683,BX647498,CR749277,L77886,Z70660,NM_002844,AL034349,AL035465,AL035470,AL035594,AL357621,AL451073,AL590006 CAI39438,CAI39439,CAI39440,EAW48084,EAW48085,EAW48086,EAW48087,EAW48088,EAW48089,BAD92907,AAO49502,AAH63596,AAI40776,CAH18132,AAC37599,CAI39437,NP_002835,CAI23053,CAI23054,CAI23055,CAI23056,CAI42408,CAI42409,CAI42410,CAI42411,CAI42412,CAI21515,CAI21516,CAI21517,CAI43008,CAI43010,CAI43011,CAI43012,CAI43013,CAI41220,CAI41221,CAI41222,CAI41223,CAI41224,CAI40499,CAI40500,CAI40501,CAA94519,Q15262,Q59EZ1,Q5JRN8,Q5JT32,Q5JT33,Q5TG10,Q5TG11,Q5TG12,Q68DT8,Q6P493,Q86WJ2 Hs.155919 GDB:9834527 DKFZp686C2268|DKFZp779N1045|R-PTP-kappa protein-coding 1347501 PTPRM protein tyrosine phosphatase, receptor type, M The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. 1580863 10809770,1655529,17761881,16380380,16335952,15588985,15491993,12895029,12477932,12376545,11278757,10777529,10753936,10094839,9624153,9531566,9346878,8620001,8404049,8394372,7961788,7782276,7642713,11801604 5797 NM_002845,AC006566,AP000897,AP001091,AP001094,AP005118,AP005227,AP005900,CH471113,AA281524,BC040543,BC051651,BC151842,BF725297,BQ926672,DC381904,X58288,NM_001105244 NP_002836,EAX01620,EAX01621,EAX01622,EAX01623,EAX01624,AAH40543,AAH51651,AAI51843,CAA41226,P28827,Q49AC9,Q86V60,NP_001098714 Hs.49774 GDB:128093 MGC166994|PTPRL1|R-PTP-MU|RPTPM|RPTPU|hR-PTPu protein-coding 734153 PTPRN protein tyrosine phosphatase, receptor type, N The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. 1580863 11043403,16273344,8024693,16713569,15939893,15620435,15596545,14702039,14624760,12477932,12021127,12021115,11908951,11774856,11483505,11334676,11289059,11086001,11079748,9828138,8798755,8646884,8641276,8144912 5798 AC114803,AF042285,CH471063,AB209368,AK054765,AK122679,AK291469,BC007713,BC070053,BT006975,L18983,X62899,NM_002846 NP_002837,AAY24038,EAW70724,EAW70725,EAW70726,BAD92605,BAF84158,AAH07713,AAH70053,AAP35621,AAA90974,CAA44688,Q16849,Q53QD6,Q59FU1,Q6NSL1,Q7KZS4,Q96IA0 Hs.89655 GDB:454048 FLJ16131|IA-2|IA-2/PTP|IA2|ICA512|R-PTP-N protein-coding 1349626 PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. The catalytic domain of this PTP is most closely related to PTPRN/IA-2beta. This PTP and PTPRN are both found to be major autoantigens associated with insulin-dependent diabetes mellitus. Three alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. 1580863 8798755,16713569,15489334,15220191,12477932,12421765,11086001,9858807,9754810,9220540,9205841,8954911,8878534,8024693 5799 NM_130842,NM_130843,NM_002847,AC005481,AC006003,AC006372,AC011899,AC019043,AC078942,AC093662,AC093856,AC125243,CH236954,CH471149,AB002385,AF007555,AL157451,BC034040,BC071570,CR590102,CR596761,CR604034,U65065,U66702,U81561 NP_570857,NP_570858,NP_002838,EAX04577,EAX04578,BAA20841,AAB63600,CAB75665,AAH34040,AAH71570,AAC51643,AAC50742,AAB68603,Q6IQ45,Q92932,Q9NSR5,Q9Y4F8,Q9Y4I6,Q9Y4I9,ABM83325,ABW03315 Hs.490789 GDB:9785772 IA-2beta|IAR|ICAAR|PTPRP protein-coding 731757 PTPRO protein tyrosine phosphatase, receptor type, O This gene encodes a receptor-type protein tyrosine phosphatase containing a single intracellular catalytic domain with a characteristic signature motif. The gene product, which has a transmembrane domain, is an integral membrane protein. Several alternatively spliced transcript variants, some of which encode different isoforms of the protein, have been described. These variants exhibit tissue-specific expression. 1580863 10498613,7665166,7753550,17593862,17545520,16888096,15356345,12477932,11368509,10397721,9434160,7519601,9263011 5800 NM_030667,NM_002848,NM_030671,NM_030669,NM_030670,NM_030668,AC007542,AC022334,AC092183,CH471094,AB209729,AF152378,AF187042,AF187043,AF187044,AK289784,AK290982,BC035960,BC126201,BC126203,U20489,Z48541 NP_109592,NP_002839,NP_109596,NP_109594,NP_109595,NP_109593,EAW96348,EAW96349,EAW96350,EAW96351,EAW96352,EAW96353,BAD92966,AAD55680,AAF04085,AAF04086,AAF04087,BAF82473,BAF83671,AAH35960,AAI26202,AAI26204,AAA82892,CAA88425,A0AV39,Q16827,Q59ET2,Q8IYG3,Q9UBF0,Q9UBT5 Hs.160871 GDB:454477 GLEPP1|PTP-U2|PTPU2 protein-coding 1345897 PTPRQ protein tyrosine phosphatase, receptor type, Q PTPRQ belongs to the type III receptor-like protein-tyrosine phosphatase (PTPase) family. PTPRQ has low activity against phosphotyrosine, but is active against phosphatidylinositol phosphates that are involved in regulation of survival, proliferation, and subcellular architecture (Seifert et al., 2003 [PubMed 12837292]).[supplied by OMIM] 1580863 12837292,12802008,9727007 374462 XM_001134446,XM_940335,XM_001718317,AC074031,AC083812,AF169351 XP_001134446,XP_945428,XP_001718369,AAD50277,Q9UMZ3 Hs.539284 GDB:9959070 PTPGMC1 protein-coding 1348456 PTPRR protein tyrosine phosphatase, receptor type, R The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domains, and thus represents a receptor-type PTP. The similar gene predominately expressed in mouse brain was found to associate with, and thus regulate the activity and cellular localization of MAP kinases. The rat counterpart of this gene was reported to be regulated by the nerve growth factor, which suggested the function of this gene in neuronal growth and differentiation. 729789,1580863 7836467,10601328,12493773,16541075,16441242,16148006,14702039,12477932,12042304,11493009,11147789,10705342,10419510,10393441,10066421,9857190,7814416,7557444 729789 5801 NM_002849,NM_130846,AC083809,AC084877,AC090676,AC140066,AF263016,CH471054,AK091647,BC072386,BC092469,BC110900,BC119777,BC122866,BX571751,CR625935,CR749836,D64053,U42361,U77916,U77917,X82635,Z79693 NP_002840,NP_570897,AAG47642,EAW97255,EAW97256,AAH92469,AAI10901,AAI19778,AAI22867,CAE11876,CAH18692,BAA10930,AAD09447,AAB54006,AAB54007,CAA57957,CAB01957,Q05B41,Q0VD90,Q15256,Q2TAJ3,Q569H9,Q68CP6,Q7Z2V8 Hs.506076 GDB:9835737 DKFZp781C1038|EC-PTP|FLJ34328|MGC131968|MGC148170|PCPTP1|PTP-SL|PTPBR7|PTPRQ protein-coding 734357 PTPRS protein tyrosine phosphatase, receptor type, S The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. 1580863 16273344,8524829,17893260,17614280,16552719,16335952,15146197,15057824,12477932,12376545,10435588,10080192,10080191,9790732,9624153,9566880,9357975,8992885,8954782,1370651,17353931,16189514 5802 NM_130853,NM_130854,NM_130855,NM_002850,AC005335,AC005338,AC005788,AC005790,AC118535,CH471139,AB209333,BC029496,BC104812,BC148297,BI461316,CN413749,CN413752,S78080,S78086,U35234,U40317,U41725 EAW69173,EAW69174,EAW69175,NP_570923,NP_570924,NP_570925,NP_002841,AAC27825,AAC62834,AAC62832,EAW69170,EAW69171,EAW69172,EAW69176,EAW69177,EAW69178,EAW69179,BAD92570,AAH29496,AAI04813,AAI48298,AAB21146,AAB21147,AAC50299,AAC50567,AAD09360,Q13332,Q16343,Q2M3R7,Q59FX6,Q8NHS7,Q9UM81 Hs.700666 GDB:555925 PTPSIGMA protein tyrosine phosphatase, receptor type, d protein-coding 1320107 PTPRT protein tyrosine phosphatase, receptor type, T The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. 1580863 16273344,9486824,9602027,17360477,17223850,16344560,15155950,11814386,11780052,11423001,9179496,8889549 11122 NM_007050,NM_133170,AL021395,AL022239,AL024473,AL031656,AL031676,AL035459,AL035666,AL049812,AL109826,AL117374,AL121763,AL136461,AL359695,CH471077,Z93942,AB006621,AF043644,AL707728,BC153300,DA791336,R50970 NP_008981,NP_573400,EAW75970,EAW75971,EAW75972,BAA22952,AAD09421,AAI53301,O14522,Q5W0Y0,Q5W0Y2,Q5W0Y3,Q5W0Y4,Q5W0Y5,AAI66683 Hs.526879 GDB:9785461 KIAA0283|RPTPrho protein-coding 1353626 PTPRU protein tyrosine phosphatase, receptor type, U The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Three alternatively spliced transcript variants, which encode distinct proteins, have been reported. 1580863,1642652,1642654,1642656 16574648,16564554,16298104,15146197,14702039,12949066,12501215,12477932,10397721,10395944,10196137,9624153,9434160,9305862,9070223,8889548,8870675,8700514 1642652,1642654,1642656 10076 CH471059,U60289,AB208855,AK094849,BC033131,NM_005704,NM_133177,NM_133178,BC146655,BM799833,BU687539,CN410555,CR621849,CR624372,U71075,U73727,AL049570,AL590729,AL645859,X95712,X97198 CAH72393,CAH72394,EAX07650,EAX07651,EAX07652,AAB07074,BAD92092,NP_005695,NP_573438,AAI46656,AAC51938,NP_573439,CAI20946,CAI20947,CAI14331,CAI14332,AAB51343,CAA65016,CAA65832,O00197,P78399,Q59HA4,Q5VSZ4,Q5VSZ5,Q92729,Q92735,Q92850 Hs.19718 GDB:9954970 FLJ37530|FMI|GLEPP1|PCP-2|PTP|PTP-J|PTP-PI|PTPPSI|PTPRO|PTPU2|R-PTP-PSI|hPTP-J protein-coding 1602650 PTPRV protein tyrosine phosphatase, receptor type, V (pseudogene) 15358244,17360168,17693256 148713 NR_002930,AL356953,AL592300,AJ629456,AY819761,AY819762,AY819763 Hs.523870 ESP|OST-PTP|PTPRVP pseudo 731607 PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 This gene is a member of the receptor type protein tyrosine phosphatase family and encodes a single-pass type I membrane protein with two cytoplasmic tyrosine-protein phosphatase domains, an alpha-carbonic anhydrase domain and a fibronectin type-III domain. Expression of this gene is induced in gastric cancer cells, in the remyelinating oligodendrocytes of multiple sclerosis lesions, and in human embryonic kidney cells under hypoxic conditions. Both the protein and transcript are overexpressed in glioblastoma cells, promoting their haptotactic migration. Alternative splice variants that encode different protein isoforms have been described but their full-length nature has not been determined. 1580863 1323835,8387522,18186075,18003890,17823238,17727841,17706593,17681947,17579610,17368428,17098867,17030583,16344560,16338072,16335952,15998549,15908427,15833863,15797857,15523497,14555979,12690205,12355066,11520897,11381105,10706604,10521598,10212223,9847074,9653645,9441757,7736789,2170109,2169617,11707406,12700241 5803 NM_002851,AC006020,AC006353,AC073095,CH236947,CH471070,BC131736,CX868991,CX872418,DA101746,DA454064,M93426,U88967,X54135 NP_002842,AAF03527,EAL24344,EAW83560,EAW83561,EAW83562,EAW83563,AAA60225,AAC39934,CAA38070,O76043,P23471 Hs.489824 GDB:127353 HPTPZ|HPTPzeta|PTP-ZETA|PTP18|PTPRZ|PTPZ|RPTPB|RPTPbeta|phosphacan protein-coding 1348911 PTPRZ2 protein tyrosine phosphatase, receptor-type, Z polypeptide 2 1580863 9653645,1323835 5804 O76043 GDB:6763972 1317017 PTRF polymerase I and transcript release factor 9582279,17026959,15242332,17081983,15951569,15592455,15489334,14702039,12477932,10727401 284119 NM_012232,AC107993,CH471152,AF000421,AF312393,AK000715,AK092406,AL050224,BC004295,BC008849,BC066123,BC073759,CR592929,CR603669,CR624680 NP_036364,EAW60828,AAC63404,AAG27093,AAH04295,AAH08849,AAH66123,AAH73759,Q6NZI2 Hs.437191 GDB:9865041 FKSG13 protein-coding 1320908 PTRH1 peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) 15489334,14702039,14660562,12477932 138428 NM_001002913,AL162426,CH471090,AK090922,BC015230,BC047012,CR611847 NP_001002913,EAW87685,EAW87686,AAH47012,Q86Y79 Hs.653265 C9orf115|MGC51999|PTH1 chromosome 9 open reading frame 115 protein-coding 1602115 PTRH2 peptidyl-tRNA hydrolase 2 17511679,15489334,15006356,14702039,14660562,12477932,10810093 51651 NM_016077,AC091271,CH471109,AF151905,AK057033,AL137322,BC006807,BC017457,BX647177 NP_057161,EAW94394,AAD34142,BAB71351,CAB70696,AAH06807,Q96ME4,Q9Y3E5 Hs.12677 BIT1|CGI-147|FLJ32471|PTH2 protein-coding 68525 PTS 6-pyruvoyltetrahydropterin synthase 1580863,1601576,1300048 3308682,16169070,11256614,17590551,17407085,17270157,16381901,16189514,16135092,15489336,15489334,15197144,14729142,14551150,12477932,11937441,11916314,11744995,11591653,11438997,11076863,10727395,10531334,10220141,9450907,9222757,9222755,9159737,8841415,8707300,8216273,8188266,8178819,7698774,7493990,1883524,1282802,10608806 1601576 5805 AP002884,CH471065,D25234,EF445018,L76259,U63382,U63383,BC009686,BC018029,CF529329,D17400,M97655,AB042297,NM_000317 BAA95486,EAW67195,BAA04959,ACA06065,AAB64229,AAC16970,AAH09686,AAH18029,BAA04224,AAA51541,Q03393,Q0JSH0,Q0JVA6,CAL37554,CAL38178,CAL38544,ABM81887,ABM85059,NP_000308 Hs.503860 GDB:118856 PTPS 6-pyruvoyl-tetrahydropterin synthase protein-coding 68511 PTTG1 pituitary tumor-transforming 1 The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. 1580863 16205121,15922332,15897900,15880121,15846392,15769981,15649325,15591026,15514942,15302935,15281346,15178645,15024062,14966902,14709851,14671639,12960092,12958169,12727994,12590639,12554778,12477932,12444553,12403781,12355087,12324572,12213878,11553328,11371342,11238996,11179223,11158059,10781616,10656688,10580151,10411507,10393434,10365261,10022450,9925941,9892021,15989971,15916961,12194817,9811450,9915854,12070128,18339849,18245958,18047793,17962814,17854787,17652795,17507465,17383977,17353909,17297475,17210994,17071631,16964243,16926250,16820881,16809406,16705313,16705156,16685397,16394085,16292982 9232 AF062649,AF075242,AF095287,AJ223953,BC026003,BC101834,BC108894,BC108895,BC112071,BC113842,BC113896,BC128193,NM_004219,AC091842,AF167560,AF167564,CH471062,BC128194,CR457135,CR541685,CR596022 AAC69752,AAD19335,AAC64409,CAA11683,AAI01835,AAI08895,AAI08896,AAI12072,AAI13843,AAI13897,NP_004210,AAF06995,AAI28194,AAI28195,CAG33416,CAG46486,O95211,O95997,Q2VPE7,Q6IAL9,EAW61551,EAW61552,EAW61553 Hs.350966 GDB:9955504 EAP1|HPTTG|MGC126883|MGC138276|PTTG|TUTR1 1643361,2289409 BW307_H,BW320_H protein-coding 1314337 PTTG1IP pituitary tumor-transforming 1 interacting protein The encoded protein, which directly binds to pituitary tumor-transforming gene 1 protein (PTTG1), facilitates the nuclear translocation of PTTG1 and potentiates the transcriptional activation of basic fibroblast growth factor by PTTG1. The gene product localizes to both the cytoplasm and nucleus. Its NLS is required for its own nuclear localization, the nuclear localization of PTTG1, and its interaction with PTTG1. 1580863 10781616,17297475,15489334,15190888,15178645,14702039,12958169,12477932,10830953,9570958 754 NM_004339,AL163300,AL773603,CH471079,AF086503,AF149785,AK094882,AK095586,AK290139,BC000415,BC012858,BC013729,BC019295,BC020983,BC031097,BC034250,CR592911,L48984,Z50022 NP_004330,CAB90552,EAX09386,EAX09387,EAX09388,AAF73770,BAF82828,AAH00415,AAH12858,AAH19295,AAH20983,AAH31097,AAH34250,CAA90325,P53801,ABM82698,ABM85882 Hs.474010 GDB:9032971 C21orf1|C21orf3|PBF protein-coding 1315534 PTTG2 pituitary tumor-transforming 2 1580863 12477932,10806349,10084610 10744 NM_006607,AC021106,AF116538,AF200719,AF095288,BC069114,BC069400 NP_006598,AAD41262,AAF72579,AAC64410,AAH69114,AAH69400,Q9NZH5 Hs.668806 GDB:9958238 protein-coding 1351902 PTTG3 pituitary tumor-transforming 3 1580863 16201836,10806349 26255 NR_002734,AC011031,AF200720,AY028471,DQ120700,AF095289 AAF72580,AAK40241,ABC40663,AAC64411,Q9NZH4 Hs.647156 rcPTTG1 pseudo 1353096 PTTG4P pituitary tumor-transforming 4 pseudogene 9847074 326315 NG_002565,AC005230 pseudo 1343528 PTX3 pentraxin-related gene, rapidly induced by IL-1 beta 1580863 1429570,18048494,18045580,17947708,17786277,17675295,17611589,17496115,17487767,17441979,17424885,17380301,17277044,17095712,16981714,16865225,16769728,16647920,16617159,16344560,16339571,16166594,16020751,15489334,15308113,15262177,14603263,14515272,12763682,12645945,12611905,12538709,12477932,12006411,12006390,12004288,11762945,10931803,9521058,9407058,9119472,8131794,7949102,7679696,7523502,1730767,15894273 5806 NM_002852,AC020630,CH471052,DQ207368,BC027887,BC039733,BQ010272,CR593354,CR605317,CR606073,CR612979,CR612981,DA716533,M31166,X63053,X63613 NP_002843,EAW78708,ABA64467,AAH39733,AAA61234,CAA44778,CAA45158,P26022,Q0P696 Hs.591286 GDB:136459 TNFAIP5|TSG-14 pentaxin-related gene, rapidly induced by il-1 beta protein-coding 731253 PUF60 poly-U binding splicing factor 60KDa The protein encoded by this gene is a Ro RNP-binding protein. It interacts with Ro RNPs and their interaction is thought to represent a gain of function for Ro RNPs. This protein also forms a ternary complex with far upstream element (FUSE) and FUSE-binding protein. It can repress a c-myc reporter via the FUSE. It is also known to target transcription factor IIH and inhibit activated transcription. This gene is implicated in the xeroderma pigmentosum disorder. There are two alternatively spliced transcript variants of this gene encoding different isoforms. There seems to be evidence of multiple polyadenylation sites for this gene. 16169070,16713569,17353931,11445587,17579712,16628215,16189514,15324660,14702039,12477932,11239393,10882074,10866799,10668799,10606266,18255255 22827 NM_014281,NM_078480,AC105049,AC105219,CH471162,AF114818,AF190744,AF217197,AK055941,AK292373,BC008875,BC009734,BC011265,BC011979,BC035435,CR457143,U51586 EAW82184,EAW82185,EAW82186,NP_055096,NP_510965,EAW82187,EAW82188,EAW82189,EAW82190,EAW82191,EAW82192,EAW82193,EAW82194,EAW82195,AAF23589,AAF05605,AAF27522,BAF85062,AAH08875,AAH09734,AAH11265,AAH11979,CAG33424,AAB41656,Q9UHX1 Hs.521924 FIR|FLJ31379|RoBPI|SIAHBP1 siah binding protein 1; fbp interacting repressor; pyrimidine tract binding splicing factor; ro ribonucleoprotein-binding protein 1 protein-coding 1316232 PUM1 pumilio homolog 1 (Drosophila) This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 18211679,17081983,16713569,16710414,16429158,15489334,15231748,15146197,14702039,14584586,12771951,12477932,12459267,12202039,11336708,9373149,8125298,7788527,16189514 9698 NM_001020658,NM_014676,AL356320,AL445235,CH471059,AF315592,AK056662,AK096476,AK222605,AK291779,AL699026,BC013398,BX647437,CN402209,CR592163,D43951 NP_001018494,NP_055491,CAH71202,CAH71203,CAH71205,CAI22246,CAI22247,CAI22249,EAX07630,EAX07631,EAX07632,EAX07633,EAX07634,AAG31807,BAD96325,BAF84468,AAH13398,BAA07895,Q14671,Q53HH5,Q5VXY5,Q5VXY8 Hs.281707 GDB:9784682 HSPUM|KIAA0099|PUMH|PUMH1|PUML1 protein-coding 1322257 PUM2 pumilio homolog 2 (Drosophila) 12511597,17154300,17081983,16967088,15815621,15617101,15607425,15489334,15302935,14702039,12771951,12690449,12477932,12459267,12421765,12168954,9039502 23369 AF315591,AK093847,BC024218,BC112046,BC112048,D87078,NM_015317,AC007041,CH471053,AF272350 AAG31806,AAH24218,AAI12047,AAI12049,BAA19665,Q8TB72,NP_056132,AAY15026,EAX00821,EAX00822,EAX00823,EAX00824,AAL36981 Hs.467824 GDB:9785314 FLJ36528|KIAA0235|MGC138251|MGC138253|PUMH2|PUML2 protein-coding 1316476 PUNC putative neuronal cell adhesion molecule 1580863 15489334,14702039,12477932,11591653,9922388 9543 NM_004884,AC105129,CH471082,AF063936,AI740721,AK095529,BC042054,BC067107,BX389424,CB988291,CR623830 NP_004875,EAW77722,AAD13399,AAH42054,AAH67107,Q8IVU1 Hs.128292 GDB:9957303 HsT18880 protein-coding 1318376 PURA purine-rich element binding protein A This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. 1580863 9334258,15777841,1545807,9716182,18258596,17641060,17081983,15707957,15517862,12972605,12933792,12565890,12491158,12477932,12411317,12147688,12034829,11937543,11751932,11730934,11596104,11417483,11413364,11169743,11032728,10954586,10679817,10597240,10500218,10457364,10412036,10318844,9383706,8943069,8759014,7862639,7606931,7592647,1448097,16741963,17353931,10082537,9830007 5813 NM_005859,AC011379,BC036087,BC110574,BC110594,BT019388,M96684,X91648 NP_005850,AAH36087,AAI10575,AAI10595,AAV38195,AAA60229,Q00577,Q2NLC9,Q2NLD4,Q56A79,Q5U0P9 Hs.443121 GDB:136237 PUR-ALPHA|PUR1|PURALPHA protein-coding 1353565 PURB purine-rich element binding protein B This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. 1580863 11417483,15489334,17081983,15302935,14702039,12933792,12853948,12690205,12477932,10318844,9847074,1448097 5814 NM_033224,AC004854,CH236960,CH471128,AA016115,AI050971,AI209043,AI912557,AK054977,AK056651,AK057669,AL119133,AL705373,AY039216,BC101735,BC101737,BF964815,BG776957,BM015566,BQ890213,BU154650,BU177276,CB046374,CR611276,R89560 NP_150093,AAS00366,EAL23749,EAW61073,AAK72462,AAI01736,AAI01738,Q96QR8 Hs.349150,Hs.596321 GDB:136238 MGC126784|MGC126786|PURBETA protein-coding 1312911 PURG purine-rich element binding protein G The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. Two transcript variants encoding different isoforms have been found for this gene. 15489334,12477932,12034829 29942 NM_001015508,NM_013357,AC008066,AC084736,CH471080,AF195513,AY077841,BC106708 NP_001015508,NP_037489,EAW63428,EAW63429,AAF03900,AAL77218,AAI06709,Q9UJV8 Hs.373778 MGC119274|PURG-A|PURG-B protein-coding 1323553 PUS1 pseudouridylate synthase 1 PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs (Chen and Patton, 1999 [PubMed 10094309]).[supplied by OMIM] 1580863 10094309,17081983,17056637,16964243,15772074,15498874,15489334,15108122,12477932 80324 NM_025215,NM_001002019,NM_001002020,AC131009,CH471054,CQ783543,AF116238,AF318369,AK074659,AK292242,BC002901,BC009505,BC019320,BC035964,BG336824,BM923133,BX340929,CB118952 NP_079491,NP_001002019,NP_001002020,EAW98530,EAW98531,EAW98532,EAW98533,CAF86716,AAD21042,AAL55876,BAF84931,AAH02901,AAH09505,AAH19320,Q9Y606,ABM83888,ABM87208 Hs.592004 GDB:11508759 MGC11268|MLASA protein-coding 1606697 PUS10 pseudouridylate synthase 10 17900615,14702039,14527409,12477932 150962 NM_144709,AC010733,CH471053,AK056874,AK291729,BC101680,BC101706,AL832208 NP_653310,EAX00022,EAX00023,EAX00024,EAX00025,EAX00026,EAX00027,BAB71300,BAF84418,AAI01681,AAI01707,Q3MIT2,CAI46123 Hs.368348 CCDC139|FLJ32312|MGC126729|MGC126755 protein-coding 1345902 PUS3 pseudouridylate synthase 3 737633 15489334,14702039,12477932,11027153 737633 83480 NM_031307,AP000842,CH471065,AF325689,AK055702,AK074218,BC004822,BC013427 NP_112597,EAW67667,AAG50280,BAB70990,AAH04822,AAH13427,Q9BZE2,ABM87652,ABM87653,ABW03906,ABW03597 Hs.660922 2610020J05Rik|FKSG32|FLJ23638 protein-coding 1603643 PUS7 pseudouridylate synthase 7 homolog (S. cerevisiae) 15489334,14702039,12853948,12477932,11572484 54517 NM_019042,AC073138,AC074013,CH236947,CH471070,AB067484,AK000492,AK091283,AK128629,BC005209,BC011396 NP_061915,AAS07447,EAW83363,EAW83364,BAB67790,BAA91203,AAH05209,AAH11396,Q96PZ0 Hs.520619 FLJ20485|KIAA1897|MGC17720 protein-coding 1606495 PUS7L pseudouridylate synthase 7 homolog (S. cerevisiae)-like 16381901,16344560,15489336,14702039,12477932,11230166,11076863,9373149,8125298 83448 NM_001098614,NM_001098615,AC016143,AC093012,CH471111,AK092030,AK097331,AK225903,AL136759,BC018000,BC020781,BC033621,BC068502,BX647494,CR627435,DB073931,DB518759,NM_031292 NP_112582,NP_001092084,NP_001092085,EAW57866,CAB66693,AAH20781,AAH33621,AAH68502,CAH10521,Q9H0K6,CAL37849 Hs.445814 DKFZP434G1415|DKFZp781B2386|FLJ34711|FLJ40012 protein-coding 1353807 PUSL1 pseudouridylate synthase-like 1 737633,1580863 16303743,15489334,14702039,12477932 737633 126789 NM_153339,AL139287,CH471183,CQ784021,AK027721,AK075292,BC034304,CR604312 NP_699170,CAI23172,EAW56245,CAF86973,BAC11527,AAH34304,Q5TA41,Q8N0Z8 Hs.400659 FLJ90811 protein-coding 735961 PVALB parvalbumin The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. 1580863 17850980,17405923,17244347,15489334,15461802,15257133,15059934,12867516,12477932,10591208,10036163,8804689,8354278,7790883,2614829,1561106,1559707 5816 NM_002854,CH471095,X52695,X63578,Z82184,Z82185,AA771973,AI262242,BC069300,BC096112,BC096113,BC096114,BC096115,CR456552,X63070 NP_002845,EAW60118,EAW60119,EAW60120,EAW60121,CAA36924,CAA45134,CAI23584,CAI23585,AAH69300,AAH96112,AAH96113,AAH96114,AAH96115,CAG30438,CAA44792,P20472,CAK54583,CAK54882 Hs.295449 GDB:119524 D22S749|MGC116759 protein-coding 736513 PVR poliovirus receptor 1580863 2538245,2170108,17893876,17534374,17507470,17446174,16335952,16216929,15640804,15607800,15536144,15489334,15471548,15279713,15194795,15194502,15136589,15076773,15057824,15039383,15034010,14702039,14652024,12943679,12913096,12759359,12663789,12477932,12195344,12011057,11983699,11751937,11573956,11437656,10841575,10618374,7914388,1851992,1701111,1331527,16189514 5817 NM_006505,AC068948,CH471126,X64116,AK025949,AK094177,AK290946,BC015542,M24406,M24407 NP_006496,AAF69803,EAW57284,EAW57285,EAW57286,CAA45478,CAA45479,CAA45480,BAF83635,AAH15542,AAA36462,AAA36461,P15151,ABM81895,ABM85069 Hs.171844 GDB:120324 CD155|HVED|NECL5|Necl-5|PVS|TAGE4 tumor-associated antigen 1 protein-coding 1604301 PVRIG poliovirus receptor related immunoglobulin domain containing 16926269,12477932,9373149,8125298 79037 NM_024070,AC005071,CH236956,CH471091,CQ834392,BC001129,BC032113,BC073861,BC107873,BC112090,BC112092,CR596791,CR597586,CR612233,CR622860 NP_076975,EAW76566,EAW76567,CAH05411,AAH01129,AAH73861,AAI07874,Q2M263,Q6DKI7,Q8ND88 Hs.521075 C7orf15|MGC104322|MGC138295|MGC138297|MGC2463 protein-coding 1350722 PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) 1599795,1580863 9616127,12885915,10932188,18356023,18076965,17164781,17089422,17005657,16674562,16497481,16335952,16247549,16122939,15857834,15731277,15489334,15146195,15110526,14702039,12915568,12515806,12477932,12438620,12072519,12011057,11756979,11559849,11356977,10617658,10225955,9861033,9811737,9758630,8889548,7721102,1776626 1599795 5818 NM_203285,NM_002855,NM_203286,AF196774,AF252867,AF373875,AF373876,AP003390,AP003393,AY445578,AY445579,AY445581,CH471065,AF060231,AF110314,AI819997,AK056455,AK091231,AK095375,AY029539,BC007379,BC021976,BC044230,BC064140,BC086309,BC104948,BC113471,BQ188335,X76400 NP_976030,NP_002846,NP_976031,AAG16649,AAG16648,AAL47715,AAL47716,AAR88250,AAR88251,AAR88252,EAW67492,EAW67493,EAW67494,AAC23798,AAD04944,BAB71189,AAK33124,AAI04949,AAI13472,CAA53980,Q15223,Q6SYC0,Q6SYC1,Q6SYC2,Q8WXR2,Q8WXR3,Q96MU0 Hs.334846 GDB:583951 CD111|CLPED1|ED4|HIgR|HVEC|MGC142031|MGC16207|OFC7|PRR|PRR1|PVRR|PVRR1|SK-12|nectin-1 protein-coding 1319880 PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9657005,17534374,17696193,17376543,17081983,16831868,16740910,16738668,16344560,16313259,16304049,16189514,15607800,15536144,15489334,15465608,15146197,15039383,12915581,12913096,12477932,12438620,12011057,11984219,11602758,10733589,10729168,10627537,10520737,10225955,10196354,9845526,9683266,7622062 5819 NM_001042724,NM_002856,AC011481,AC093232,AF044962,AF044963,AF044964,AF044965,AF044966,AF044967,AF044968,AF050154,AY331689,AY331691,AY331694,CH471126,AF058448,AJ708439,AK291330,BC003091,BQ549399,CN359643,CN410857,CR456818,CR600069,CR604055,CR611629,CR624532,CR625208,DA198252,X80038 NP_001036189,NP_002847,AAC82348,AAC82347,AAD02503,AAQ19176,AAQ19177,AAQ19178,EAW57298,EAW57299,AAC23797,BAF84019,AAH03091,CAG33099,CAA56342,Q6IBI6,Q7Z456,Q7Z457,Q7Z458,Q92692,Q9UEI6,ABM82755,ABM85941 Hs.655455 GDB:683125 CD112|HVEB|PRR2|PVRR2 protein-coding 1319897 PVRL3 poliovirus receptor-related 3 Nectins (e.g., PVRL1; MIM 600644) are immunoglobulin-like adhesion molecules that interact with afadin (AF6; MIM 159559). Afadin is an actin filament-binding protein that connects nectins to the actin cytoskeleton. The nectin-afadin system organizes adherens junctions cooperatively with the cadherin (see MIM 192090)-catenin (see MIM 116805) system in epithelial cells.[supplied by OMIM] 1580863 16216929,15489334,12759359,12515806,12477932,12011057,11024295,10744716,16189514 25945 NM_015480,AC133477,AC137833,CH471052,AF282874,AK075105,AL050071,BC001336,BC017572,BC067808 Q8NC05,Q9NQS3,AAH67808,NP_056295,EAW79703,AAF97597,BAC11404,CAB43256,AAH01336,AAH17572 Hs.293917 CD113|CDw113|DKFZP566B0846|FLJ90624|PPR3|PRR3|PVRR3|nectin-3 protein-coding 1347607 PVRL4 poliovirus receptor-related 4 Poliovirus receptor-like proteins (PVRLs), such as PVRL4, are adhesion receptors of the immunoglobulin superfamily and function in cell-cell adhesion (Reymond et al., 2001 [PubMed 11544254]).[supplied by OMIM] 737633,1580863 17474988,15784625,14702039,12477932,12011057,11544254 737633 81607 AF426163,AK027753,BC010423,BC013892,NM_030916,AL591806,CH471121,AF160477,AF218028 AAG17270,AAL23958,BAB55344,AAH10423,Q96NY8,Q9HBN2,ABM84430,ABM87482,NP_112178,CAI15376,EAW52665,EAW52666,AAF82399 Hs.492490 LNIR|PRR4|nectin-4 protein-coding 1348372 PVT1 Pvt1 oncogene homolog (mouse) 17908964,17881614,17503467,17395743,16341674,14702039,12477932,3024964,2725491,2470097,2181290 5820 NR_003367,AC026248,AC084123,AC103705,AC103819,M26714,M31519,X04620,AK128687,AK129745,BC033263,BC041065,BM821521,BX648921,D79458,M25803,M34428,M34429,M34430,M34431 Hs.133107,Hs.675281 GDB:119525 MGC21751 miscrna 1347394 PWCR Prader-Willi syndrome chromosome region 5821 GDB:120325 1342546 PWCR1 Prader-Willi syndrome chromosome region 1 11726556,11106375,11007541 63968 NR_003106,NG_002690,AC124312,AF250841,AF241255 Hs.658578 GDB:11507559 PET1 miscrna 1605095 PWP1 PWP1 homolog (S. cerevisiae) 7828893,17081983,16565220,15761153,15302935,12477932,11850830,11790298,9373149,8895530,8125298 11137 NM_007062,AC007622,CH471054,AK223162,AK290681,BC000067,BC001652,BC010921,BC032127,BC040135,BC046144,CR592802,CR593843,CR595438,CR597861,CR614481,CR620047,CR621244,L07758,Z36804,Z36805 NP_008993,EAW97802,EAW97803,BAD96882,BAF83370,AAH00067,AAH01652,AAH10921,AAH32127,AAH40135,AAH46144,AAA65201,Q13610,Q53FW9,Q6PIN4,Q6PKI5,Q7Z3X9,Q86X79,Q9BV37,ABM83661,ABM86908,ABM87013,Q05BL3 Hs.506652 IEF-SSP-9502 protein-coding 1317740 PWP2 PWP2 periodic tryptophan protein homolog (yeast) 1580863 8661145,8893822,15489334,12477932,12429849,10830953,9205129,9196060,8973917,8889548 5822 NM_005049,AB001517,AB001523,AP001753,CH471079,U56089,X96424,X96425,AB209438,AI968015,BC013309,BC014988,BM457858,BM835826,BU683943,BX387451,BX452317,CR601365,U53346,X95263,U56085 NP_005040,BAA21137,BAA21100,BAA95553,EAX09458,AAC50905,CAA65284,CAA65285,BAD92675,AAH13309,AAH14988,AAB08084,AAC50904,CAA64560,Q15269,Q59FM2 Hs.449076 GDB:1220218 EHOC-17|PWP2H protein-coding 1642916 PWWP2A PWWP domain containing 2A 14702039,12477932,11572484 114825 NM_052927,AC008706,CH471062,AB067522,AF173385,AK055921,BC018680,BC035076,BC039106,BC105110,DB450981 NP_443159,EAW61568,BAB67828,AAQ13626,BAB71045,AAH35076,AAI05111,Q7Z4D8,Q96N64 Hs.596850,Hs.699426 KIAA1935|MGC132770|MST101 protein-coding 1316105 PWWP2B PWWP domain containing 2B 15489334,15302935,15164054,14702039,12477932 170394 CH471287,AF318365,AK096940,AK128663,AW166547,BC011630,BC068574,BG260395,DB477789,NM_138499,NM_001098637,AL590105 CAI13020,EAW49120,AAL55872,BAC04906,BAC87557,AAH11630,AAH68574,Q6NUJ5,Q8N8E0,Q8WYT6,NP_612508,NP_001092107 Hs.527751 FLJ39621|FLJ46823|PWWP2|RP11-273H7.1|bA432J24.1|pp8607 protein-coding 1607083 PXDN peroxidasin homolog (Drosophila) 11103812,16344560,15146197,14702039,12477932,10441517,9039502,7959781,12023963 7837 NM_012293,AC009471,CH471053,AF200348,AK098167,BC009496,BC030834,BC041027,BC070119,BC098579,CN359024,CN359026,D86983,DA866300,EF090903 NP_036425,EAX01084,EAX01085,AAF06354,AAH09496,AAH98579,BAA13219,ABO25865,Q92626,Q96GF5,AAI40296 Hs.332197 D2S448|D2S448E|KIAA0230|MG50|PRG2|PXN|VPO protein-coding 1606718 PXDNL peroxidasin homolog (Drosophila)-like 16421571,16344560,14702039,12477932 137902 NM_144651,AC011128,AC012413,AC090186,AC103958,AC107374,CH471068,AI127081,AK058200,AK131524,AY877349,BC132813,DB337228 NP_653252,EAW86707,EAW86708,BAB71713,BAD18663,AAX70929,A1KZ92 Hs.444882 FLJ25471|VPO2 protein-coding 1342516 PXE pseudoxanthoma elasticum 4841083,10585762 5823 GDB:6053895 1348394 PXK PX domain containing serine/threonine kinase PXK binds to the Na,K-ATPase beta-1 (ATP1B1; MIM 182330) and beta-3 (ATP1B3; MIM 601867) subunits and modulates both Na,K-ATPase enzymatic and ion pump activities (Mao et al., 2005 [PubMed 16135750]).[supplied by OMIM] 6142408,16135750,16142408,18204446,15489334,14702039,12477932 54899 NM_017771,AC135507,AC098479,CH471055,AB209688,AF399753,AK000342,AK131385,AY274811,AY437879,AY847220,AY847221,AY847222,BC008943,BC014479,BC108670,CR601001,DQ124707,DQ124708 NP_060241,EAW65368,EAW65369,EAW65370,BAD92925,AAK94455,BAA91097,BAD18536,AAP42076,AAR98521,AAX73352,AAX73353,AAX73354,AAH08943,AAH14479,AAI08671,AAZ38821,AAZ38822,Q32NE9,Q7Z7A4 Hs.190544 FLJ20335|MONaKA protein-coding 1347054 PXMP2 peroxisomal membrane protein 2, 22kDa 1580863 16683188,12477932,11590176,10704444,8624723 5827 NM_018663,XM_001713955,AC135586,CH471218,AF250136,AY044439,BC009836,BC073997 NP_061133,XP_001714007,EAW54828,EAW54829,AAF73963,AAK95858,AAH09836,AAH73997,Q96GB0,Q9NR77 Hs.430299 GDB:131486 PMP22 protein-coding 1349650 PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome) This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. 1580863 10837480,1546315,12751901,16344560,16169070,15542397,15489334,12477932,10891359,10528859,9765053,9452066,8858157,8020947,7600573,2454948,1750930,1426230,16189514 5828 NM_001079867,NM_000318,AC090810,AF133823,AF133824,AF133825,AF133826,CH471068,BC000661,BC005375,BC093043,BX093361,CR590023,CR591298,CR596267,CR599356,CR609585,CR610629,CR623390,CR626340,DA210382,M85038,M86852 NP_001073336,NP_000309,AAF97687,EAW87052,AAH00661,AAH05375,AAH93043,AAA60141,AAC12785,P28328,Q6GU86,ABZ92521 Hs.437966 GDB:131487 PAF-1|PAF1|PEX2|PMP3|PMP35|RNF72 protein-coding 1348847 PXMP4 peroxisomal membrane protein 4, 24kDa 1580863 10366717,15489334,14709540,14702039,12477932,11780052,11230166,10704444 11264 NM_183397,NM_007238,AL050349,AL121906,CH471077,AF072864,AI985147,AK023879,AK128879,AL136648,BC001147,BQ278083,CR533471,DB495125 NP_899634,NP_009169,CAC14086,EAW76298,AAD43195,CAB66583,AAH01147,CAG38502,Q6FIF5,Q9Y6I8 Hs.654857 GDB:9957590 PMP24 protein-coding 1313984 PXN paxillin 1580863 14688263,9054445,10840040,7534286,15574420,18327407,18172305,18078823,17574549,17513457,17462669,17298394,17233630,17187346,17081983,16964243,16552730,16541075,16365170,16344560,16341674,16212439,16212419,16094384,16040804,15951569,15870699,15817476,15770719,15652490,15652337,15592455,15252114,15242880,15191880,15175910,15155793,14970194,14702039,14699151,12861019,12853963,12837751,12794117,12477932,11928806,11820787,11779709,11774284,11759057,11477105,11181995,10938112,10749932,10604475,10330411,9785458,9621077,12629171,12153727,10896954,12639940,10417825,8810278,8641358,7493940,12149250,11704675,11251077,7525621,11950600,9590268,8609175,11805099,10092539,11278335,10625692,10400685,10085298,10655584,10082579,8986614,8922390,11857088,10675325,11113628,11096073,12118253,10455189,10080957,9488700,10804218,7657702,11598204,12234367,11919182,11533025,12033289,11694518,11304546,11577104,9099734,7529872,12198159,11035932,9603926,15023529,14523024,11134073,15719014,15793570 5829 NM_001080855,NM_025157,AC004263,CH471054,U87946,AB209034,AK026695,AK122964,AK128712,BC003647,BC006840,NM_002859,BC015217,BC052611,BM742662,BU500419,BX648777,D86862,D86863,DA105135,U14588,BC010498 NP_002850,NP_001074324,NP_079433,AAC05175,EAW98175,EAW98176,EAW98177,EAW98178,EAW98179,AAD00648,BAD92271,BAB15529,BAC87586,AAH03647,AAH10498,AAH15217,AAH52611,CAI46024,BAA18997,BAA18998,AAC50104,P49023,Q59GS5,Q5HYA4,Q6ZQU7,Q9BTK0 Hs.446336 GDB:702105 FLJ16691 protein-coding 1349206 PXT1 peroxisomal, testis specific 1 18160785,12477932 222659 NM_152990,AL133263,CH471081,AF486827,BC031105,BC107049 NP_694535,EAX03891,AAN03789,AAH31105,AAI07050,Q8NFP0 Hs.520097 MGC129569|STEPP protein-coding 1602723 PYCARD PYD and CARD domain containing This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. 15030775,12019269,10567338,12656673,18348116,18311798,18263805,17964261,17599361,17048097,16964285,16848908,16777061,16715133,16425203,16189514,16037825,15701651,15641782,15489334,15456791,15041718,15020601,14985395,14730312,14702039,14643031,14634131,14499617,12949795,12800194,12776200,12646168,12615073,12553049,12486103,12477932,12191486,12054656,11967258,11786556,11733524,11498534,11374873,11250163,11103777,11103776,10847592 29108 NM_145182,NM_013258,AC009088,AF184072,CH471192,AB023416,AF184073,AF255794,AF310103,AF384665,AK000211,BC004470,BC013569 NP_660183,NP_037390,AAG01187,EAW52148,EAW52149,BAA87339,AAG01188,AAF99665,AAG30286,AAK63850,BAA91012,AAH04470,AAH13569,Q9ULZ3 Hs.499094 ASC|CARD5|MGC10332|TMS|TMS1 protein-coding 1317303 PYCR1 pyrroline-5-carboxylate reductase 1 This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternate splicing results in two transcript variants encoding different isoforms. 1580863 1730675,16730026,15489334,12477932,9373149,8880459,8125298,6894153,6253048,6201483,2722838,212173 5831 NM_006907,AC137723,NM_153824,CH471099,AF218000,AK225879,AY513285,BC001504,BC022244,BC071842,CR541769,CR590051,CR590479,CR592144,CR595130,CR597376,CR602898,CR605144,CR606824,CR607700,CR607829,CR608872,CR610838,CR611221,CR613661,CR615012,CR615796,CR620816,M77836 NP_722546,NP_008838,EAW89717,EAW89718,EAW89719,EAW89720,EAW89721,EAW89722,EAW89723,EAW89724,EAW89725,EAW89726,AAG17242,AAT08038,AAH01504,AAH22244,AAH71842,CAG46568,AAA36407,P32322,Q2TU78,Q8TBX0 Hs.458332 GDB:135716 P5C|P5CR|PIG45|PP222|PYCR protein-coding 1320768 PYCR2 pyrroline-5-carboxylate reductase family, member 2 737633 16713569,16710414,15489334,15231748,14702039,12477932 737633 29920 NM_013328,AL117348,CH471098,AF087859,AF151351,AK001508,AK291913,AL834217,BC014868,BC020553,CR591913,CR594685,CR604163,CR608543,CR608901,CR608958,CR610157,CR610465,CR611703,CR613758,CR617528,CR618204,CR618300,CR620489,CR622717,CR625163,CR621692 NP_037460,CAI21800,CAI21801,CAI21802,CAI21803,EAW69761,EAW69762,EAW69763,EAW69764,EAW69765,AAP97169,AAD34611,BAF84602,CAD38899,AAH14868,AAH20553,Q4W8W1,Q5TE92,Q5TE93,Q8NCZ0,Q96C36 Hs.654718 P5CR2 protein-coding 1319273 PYCRL pyrroline-5-carboxylate reductase-like 1580863 8125298,14702039,12477932,11591653,9373149 65263 NM_023078,AC067930,CH471162,AF086378,AK001500,AK023914,AK222685,AK225404,AL833857,BC007993 NP_075566,EAW82223,EAW82224,EAW82225,BAB14721,BAD96405,CAD38716,AAH07993,Q53H96 Hs.165186 FLJ13852 protein-coding 1605835 PYDC1 PYD (pyrin domain) containing 1 12656673,18031289,16905547,16403450,15489334,12477932,11166558 260434 NM_152901,AC009088,CH471192,AF086332,AF454669,AF467809,AY163727,BC105033,BC105035 NP_690865,EAW52147,AAL58439,AAN03745,AAO23114,AAI05034,AAI05036,Q8WXC3 Hs.58314 ASC2|POP1|PYC1 protein-coding 736182 PYGB phosphorylase, glycogen; brain The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. 1580863,1642822 3346228,10638593,17393985,17081983,15489334,12665801,12477932,12211109,11780052,9792273,8244401,7775103,3447179,2615594,16189514 1642822 5834 NM_002862,AL121772,CH471133,AB209080,AF432222,BC017045,BC030795,BQ433140,CR609882,J03544,U47025 NP_002853,CAC00661,CAI23473,EAX10091,EAX10092,EAX10093,BAD92317,AAL99928,AAH17045,AAH30795,AAA59597,AAB60395,P11216,Q59GM9,Q5JWL9,Q8TDG6,ABM85600,ABW03734 Hs.368157 GDB:120326 MGC9213 brain glycogen phosphorylase protein-coding 1352184 PYGBL phosphorylase, glycogen, brain-like 3346228 5835 GDB:120327 731803 PYGL phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI) 1582633,1599374,1601233,1580863,1300048,1642822 9529348,17705025,17081983,15489334,15223230,14684825,12477932,12204691,11093832,10980448,10949035,9536091,9373149,8125298,3509980,2883891,2877458 1582633,1599374,1601233,1642822 5836 NM_002863,AF046798,AL358334,CH471078,AF046785,AF066858,AK225904,AL134906,AY429567,BC009895,BC065011,BC082229,BC095850,BC110791,CR593967,CR594898,CR600182,CR614961,CR623284,CR623534,M14636,M36807,Y15233 NP_002854,AAC18079,EAW65685,EAW65686,EAW65687,AAC23504,AAC17450,AAH09895,AAH65011,AAH82229,AAH95850,AAI10792,AAA52577,AAA35906,CAA75517,P06737,Q6P1L4 Hs.282417 GDB:120328 GSD6 liver glycogen phosphorylase protein-coding 737329 PYGM phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) Glycogen phosphorylase (EC 2.4.1.1) catalyzes and regulates the breakdown of glycogen to glucose-1-phosphate.[supplied by OMIM] 1599985,1599987,1599990,1599897,1599991,1599993,1580863,1642822 9633816,17353931,17994553,17915571,17719780,17630210,17404776,17324573,16786513,16671104,16523484,16154688,16083285,15489334,14702039,14662163,12804600,12640006,12477932,12398832,12031624,11749054,11706962,11168025,10899452,10714589,10681080,10590419,10417800,10382912,10382911,9506549,8535454,8316268,7958997,7744850,15979037,7603523,6797345,3840433,3466902,3447177,2703328,1701414,1150650 1599985,1599987,1599990,1599897,1599991,1599993,1642822 5837 NG_007574,AP001462,CH471076,M32598,U94774,U94777,AF066859,AJ572752,AK056607,AK057547,BC029305,BC126392,BC130514,M16013,NM_005609,X03031 NP_005600,EAW74284,EAW74285,AAA60231,AAC52081,AAC17451,AAI26393,AAI30515,AAA36216,CAA26834,P11217 Hs.154084 GDB:120329 muscle glycogen phosphorylase protein-coding 1346093 PYGO1 pygopus homolog 1 (Drosophila) 1580863 11988739,11955446,14612447 26108 NM_015617,AC012378,AC022083,CH471082,CQ897768,AF457207,AL049925,EF625686 NP_056432,EAW77492,CAH69779,AAL91370,CAB43209,ABU93489,Q9Y3Y4,AAI41425,AAI46573 Hs.256587 DKFZp547G0910 protein-coding 1343524 PYGO2 pygopus homolog 2 (Drosophila) 1580863 17113272,18314487,17203217,16964243,16609037,15498874,15489334,15146197,14702039,14612447,12477932,11988739,11955446 90780 AF289598,AF457208,AK090545,AK092389,AK095425,BC006132,BC013725,BC032099,CN260857,CR624320,CQ897766,NM_138300,AL451085,CH471121 AAL55782,AAL91371,BAC03474,BAC03877,AAH06132,AAH13725,AAH32099,Q5T170,Q5T171,Q8NBG9,Q9BRQ0,ABM84305,CAH69778,ABM86878,NP_612157,CAI13243,CAI13244,EAW53172,EAW53173 Hs.533597 1190004M21Rik|FLJ33226 protein-coding 1606702 PYHIN1 pyrin and HIN domain family, member 1 16479015,16344560,15122330,12477932 149628 NM_198929,NM_198928,NM_198930,AL359753,AK024890,AY185344,AY185345,AY185346,AY185347,BC020822,BC073133,BC090944,NM_152501,BC114470,BC139741,DB126431 NP_689714,NP_945147,NP_945146,NP_945148,CAI15075,CAI15076,CAI15077,CAI15078,CAI15079,CAI15080,AAO67506,AAO67507,AAO67508,AAO67509,AAH20822,AAH90944,AAI39742,Q6K0P9 Hs.710248 IFIX|MGC23885|RP11-520H16.1 protein-coding 1605346 PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 12477932,16189514 79912 NM_024854,AC006559,CH471094,AK025681,AK125461,AL832441,BC021662,CR594393 NP_079130,EAW96428,EAW96429,EAW96430,EAW96431,EAW96432,EAW96433,BAB15214,CAH10632,AAH21662,Q8WU10 Hs.705507 FLJ22028 protein-coding 1348512 PYY peptide YY 1625281,1580863 10698177,7592911,10488139,7493937,18239577,18154642,17936861,17934448,17726080,17597642,17325259,17235527,17138722,17119001,17087952,17045646,16907966,16828127,16819834,16720664,16563563,16420657,16368708,16362815,16278259,16204364,16174724,15998659,15983231,15972581,15855352,15489334,15331560,14687084,12477932,11825656,11825655,11825654,11825653,11825652,11825651,11825650,11825649,11825641,11825640,11408607,11278902,10029457,8318545,7782089,3840109,3517149,3202875,2721879,2587421 1625281 5697 AC007993,AC023855,CH471178,D13897,L25648,BC041057,CR542129,D13899,D13902,NM_004160 NP_004151,EAW51644,EAW51645,EAW51646,BAA02997,BAA02998,AAA36433,AAH41057,CAG46926,BAA03000,BAA03002,P10082 Hs.169249 GDB:385050 PYY1 1643448,1643463,2289501,2289511 BW109_H,BW110_H,BW444_H,BW453_H protein-coding 1345281 PYY2 peptide YY, 2 (seminalplasmin) 15855352,11825642,10756099,7831336 23615 NR_003064,AC061975,CH471159,AF222904 EAW51064,AAF73876,Q9NRI6 Hs.157195 GDB:10795333 pseudo 1625819 PYY3 peptide YY, 3 644059 NM_001109810,NG_007615,AL663118 NP_001103280 Hs.705363 pseudo 736140 PZP pregnancy-zone protein 1580863 2692707,14718574,17257854,16344560,16335952,12477932,11811950,9344465,8662763,8620037,7513640,6209714,2478422,2476433,2462561,2415522,1989698,1702714,1692292 5858 AC010175,CH471116,M24416,X51541,BC111756,DB040351,X54380,NM_002864 EAW88588,EAW88589,AAA60234,CAA35919,AAI11757,CAA38255,NP_002855,P20742 Hs.212838 GDB:120330 CPAMD6|MGC133093 protein-coding 737584 ProSAPiP1 ProSAPiP1 protein 16522626,12477932,11780052,9628581 9762 NM_014731,AL121891,CH471133,AB011124,BC038860 NP_055546,CAC09910,EAX10545,EAX10546,EAX10547,BAA25478,AAH38860,O60299,Q8IXX8,ABM86581 Hs.90232 GDB:9958197 KIAA0552 protein-coding 1346181 QARS glutaminyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. 1580863 8078941,14667819,16189514,15592455,15489334,15231748,14702039,12477932,11096076,10913161,10801842,10791971,10393422,9878398,9373149,1651330,8125298 5859 NM_005051,AC135506,CH471055,AF130067,AK056815,AK222510,AK290523,BC000394,BC001567,BC001772,BC016634,BC029739,X76013 NP_005042,EAW64952,EAW64953,EAW64954,AAG35495,BAD96230,BAF83212,AAH00394,AAH01567,AAH01772,AAH16634,AAH29739,CAA53600,P47897,Q53HS0,Q96AW5,Q9BUZ3,Q9H3A5 Hs.79322 GDB:386453 GLNRS|PRO2195 protein-coding 734380 QDPR quinoid dihydropteridine reductase This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. 1580863,1601577,1300048 3033643,11256614,18444252,17188538,16381901,15489336,15489334,15009710,14718574,12477932,11937441,11153907,11076863,10408783,9744478,9427141,9373149,8326489,8262916,8137944,8125298,7627180,6797415,6746636,3718470,3711039,3666748,3587329,3031582,2330583,2116088,1160969 1601577 5860 CR596771,CR602964,CR608945,CR614918,CR617908,CR622555,CR624599,M16447,X04882,AB053170,AC006160,AC093600,AJ006239,CH471069,AK124382,AK223437,AK289773,BC000576,CR591242,CR595211,NM_000320 AAA52305,CAA28571,P09417,CAL38594,ABM82852,ABM86039,NP_000311,BAB20429,CAA06930,EAW92774,EAW92775,EAW92776,EAW92777,EAW92778,BAD97157,BAF82462,AAH00576 Hs.75438 GDB:120331 DHPR|FLJ42391|PKU2 protein-coding 1319346 QKI quaking homolog, KH domain RNA binding (mouse) QKI belongs to a family of RNA-binding proteins that have an HNRNPK (MIM 600712) homology (KH) domain embedded in a 200-amino acid region called the GSG domain. Other members of this family include SAM68 (KHDRBS1; MIM 602489) and SF1 (MIM 601516) (Chen and Richard, 1998 [PubMed 9671495]).[supplied by OMIM] 16713569,17787018,17079655,17012699,16641098,16342280,16205629,16189514,15489334,14702039,14574404,12529443,12511597,12477932,11917126,11856480,10535969,9671495,7829101 9444 NM_206855,NM_206854,NM_206853,AB067808,AL031781,AL356119,CH471051,NM_006775,AB067798,AB067799,AB067800,AB067801,AF142418,AF142419,AF142422,AF272349,AI146598,AJ420502,AK027309,AK055085,AK096701,AL050218,AW022136,AY780788,BC008190,BC012222,BC019917,CR611372,CR626096,DQ323998 NP_006766,NP_996737,NP_996736,NP_996735,BAB69681,CAI21651,CAI21652,CAI21653,CAI23022,CAI23023,CAI23024,EAW47554,EAW47555,EAW47556,EAW47557,EAW47558,EAW47559,EAW47560,BAB69496,BAB69497,BAB69498,BAB69499,AAF63413,AAF63414,AAF63417,AAL36980,BAB55032,AAV98358,AAH12222,AAH19917,ABC88600,Q8WY44,Q96PU8 Hs.510324,Hs.593520 GDB:9956726 DKFZp586I0923|Hqk|QK|QK1|QK3 protein-coding 735639 QPCT glutaminyl-peptide cyclotransferase (glutaminyl cyclase) This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. 704349,1580863 7999256,17687619,17334644,16135565,15489334,15231017,14680951,14522962,12477932,12196024,11551224,3597387 704349 25797 NM_012413,AC007391,CH471053,AB062487,AK290605,BC015460,BC020456,BC036721,BC047756,BF970452,BI755122,CR596088,CR608310,CR620857,CR623589,X67731,X71125 NP_036545,AAY14804,EAX00392,EAX00393,EAX00394,EAX00395,EAX00396,EAX00397,BAB93512,BAF83294,AAH36721,AAH47756,CAA47961,CAA50438,Q16769,Q3KRG6,Q53TR4,Q8NI73 Hs.79033 GDB:11503522 GCT|QC glutaminyl cyclase protein-coding 1350934 QPCTL glutaminyl-peptide cyclotransferase-like 17353931,12477932,9373149,8125298,15782160 54814 NM_017659,AC007191,CH471126,AK000091,AK172764,AK222636,BC011553,BU927708,CR602598 NP_060129,EAW57375,EAW57376,BAA90938,BAD18747,BAD96356,AAH11553,Q9NXS2 Hs.631556,Hs.700127 FLJ20084 protein-coding 1321139 QPRT quinolinate phosphoribosyltransferase (nicotinate-nucleotide pyrophosphorylase (carboxylating)) This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimer's disease, and Huntington's disease. 1580863 3409840,9473669,17868694,16189514,15489334,12477932,10721107 23475 BC010033,BC018910,BG748194,BT007231,CR594408,CR595386,CR600977,CR603957,CR608816,D78177,NM_014298,AC009086,AC009133,AC023831,CH471238,BC005060 AAH10033,AAH18910,AAP35895,BAA11242,Q15274,NP_055113,EAW80014,AAH05060 Hs.513484 GDB:9956610 QPRTase protein-coding 1606909 QRFP pyroglutamylated RFamide peptide The P518 precursor protein can be processed into several RF (arg-phe)-amide peptides, including P518. RF-amide peptides share a common C-terminal motif and are involved in cell signaling through G protein-coupled receptors (Jiang et al., 2003 [PubMed 12714592]).[supplied by OMIM] 14657341,16899066,15891009,15808908,15489334,12960173,12714592,12477932 347148 NM_198180,AL161733,AY438326,AB109625,BC101127,BC101128 NP_937823,CAM45757,AAR24354,BAC98934,AAI01128,AAI01129,P83859,Q495K5 Hs.660704 26RFa|MGC119794|P518|RP11-618A20.5 protein-coding 1606541 QRICH1 glutamine-rich 1 16713569,15489334,15231748,14702039,12477932 54870 NM_198880,NM_017730,AC135506,AC137630,CH471055,AK000266,AK022524,AK025013,AK074313,AK093259,AK124205,AK292536,AW673597,BC000978,BC098375,BC110855,BC130340,BC130342,BI459089 NP_942581,NP_060200,EAW64948,EAW64949,EAW64950,EAW64951,BAA91042,BAB14076,BAB85047,BAF85225,AAH00978,AAH98375,AAI10856,AAI30341,AAI30343,Q2TAL8,Q9H9Z1,Q9NXG9 Hs.297389 FLJ20259|MGC131838 protein-coding 1604772 QRICH2 glutamine rich 2 17353931,11230166 84074 BC131559,NM_032134,AC015801,AC090699,CH471099,AK058102,AL136774 NP_115510,EAW89384,EAW89385,BAB71667,CAB66708,Q9H0J4,AAI31560 Hs.252739 DKFZP434P0316 protein-coding 1343877 QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 1580863 14702039,12477932,11230166,9373149 55278 AK225443,NM_018292,AL390074,CH471051,AK001851,AK022251,AK023509,AK225262,AL136679,BC006084,BC014389,CR592831,CR598150,CR618052 EAW48408,NP_060762,CAH72093,CAH72094,EAW48407,BAA91941,BAB13996,BAB14592,CAB66614,AAH06084,AAH14389,Q9H0R6 Hs.406917 DKFZP564C1278|FLJ10989|FLJ12189|FLJ13447|GatA protein-coding 1605632 QSER1 glutamine and serine rich 1 14702039,12477932 79832 NM_001076786,AC107939,AL035400,AL049713,CH471064,AK025577,AK055185,AK095528,AK123858,AK125391,AK125902,AK126023,AL834141,BC013746,BC112935 NP_001070254,EAW68214,BAB15176,BAC86154,BAC86397,AAI12936,Q2KHR3,Q9H6S7 Hs.369368 FLJ21924 protein-coding 69035 QSOX1 quiescin Q6 sulfhydryl oxidase 1 This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. 1580863 17331072,8396966,10708601,17944490,16806532,16713569,16710414,16335952,15489334,15302935,14702039,12975309,12477932,12176051,10542195,9878249 5768 NM_001004128,AL390718,CH471067,AB209280,AF361868,AK092177,AK290842,AK290887,AY358941,BC017692,BC100023,BX382719,CB137990,CR597598,CR601148,CR613263,CR619667,L42379,U97276,NM_002826 NP_002817,NP_001004128,CAI14838,CAI14839,CAI14840,EAW91076,EAW91077,BAD92517,AAM00263,BAF83531,BAF83576,AAQ89300,AAH17692,AAI00024,AAA89173,AAC09010,O00391,Q13876,Q5T2X6,Q8TCH8 Hs.518374 GDB:9837496 FLJ34858|Q6|QSCN6 protein-coding 1316813 QSOX2 quiescin Q6 sulfhydryl oxidase 2 737633,1580863 15489334,15164053,14702039,14633699,12477932,12176051 737633 169714 NM_181701,AL138781,CH471090,CR392000,AJ318051,AJ420461,AK128077,AK128750,AL834369,BC047604,BQ269870,CR601649 NP_859052,CAI16880,CAI16881,EAW88207,EAW88208,EAW88209,CAC85331,BAC87262,CAD39032,AAH47604,Q6ZRP7 Hs.657864 DKFZp762A2013|QSCN6L1|RP11-83N9.4|SOXN protein-coding 732681 QTRT1 queuine tRNA-ribosyltransferase 1 (tRNA-guanine transglycosylase) tRNA-guanine transglycosylase (TGT; EC 2.4.2.29) synthesizes queuosine (Q), which is found in tRNAs that recognize NAU and NAC codons, encoding tyr, asn, asp, and his. Prokaryotic TGT is a single protein of 43 kD. In contrast, mammalian TGT appears to be a heterodimer consisting of a 60-kD subunit (USP14; MIM 607274) and a 43-kD catalytic subunit (QTRT1) (Deshpande and Katze, 2001 [PubMed 11255023]).[supplied by OMIM] 1580863 11255023,15489334,14702039,12477932,9373149,8125298 81890 NM_031209,AC011475,CH471106,AF302783,AF302784,AF302785,AF370379,AK055216,AK057877,AK225173,BC015350,CR602960,CR614822,CR614899 NP_112486,EAW84138,EAW84139,EAW84140,EAW84141,EAW84142,EAW84143,AAG60033,AAG60034,AAQ15215,AAH15350,Q71RF8,Q9BXR0 Hs.631638 FP3235|TGT protein-coding 1320734 QTRTD1 queuine tRNA-ribosyltransferase domain containing 1 737633 14702039,12477932 737633 79691 NM_024638,AC092896,CH471052,AK023022,AL832215,BC034559,BC039265,CR457296,CR595228,CR614436,AL833709 NP_078914,EAW79613,EAW79614,BAB14361,AAH34559,AAH39265,CAG33577,Q9H974 Hs.477162 FLJ12960 protein-coding 1603166 R3HCC1 R3H domain and coiled-coil containing 1 12477932 203069 CR590969,CR591686,CR591817,CR600229,CR602549,CR605355,CR605793,CR610879,CR617722,CR626128,XM_114618,XM_939319,XM_001716421,AC090197,AL050297,BC032421,BC050572 Q9Y3T6,XP_114618,XP_944412,XP_001716473,CAB43396 Hs.458644 DKFZp564N123 protein-coding 1316725 R3HDM1 R3H domain containing 1 1580863 16713569,15570572,15489334,15144186,12477932,7584028,7584026 23518 NM_015361,AC011893,AC016742,CH471058,AK026987,AK127793,AK290015,BC001217,BC041093,D21852 NP_056176,AAX88922,AAY14728,EAX11627,EAX11628,BAF82704,AAH01217,AAH41093,BAA04878,Q15032,Q4ZG59,Q53SQ1,Q9BVG5 Hs.707994 GDB:9784358 FLJ23334|KIAA0029|R3HDM protein-coding 1605089 R3HDM2 R3H domain containing 2 16713569,12477932,10737800,10231032 22864 NM_014925,AC126614,AC137834,CH471054,AB023219,AF113695,BC008143,BC041857,BC104995,BC112226,BQ346058,BU603842,CR596895 NP_055740,EAW97008,EAW97009,BAA76846,AAF29588,AAH41857,AAI04996,AAI12227,Q9P1N3,Q9Y2K5 Hs.443673 KIAA1002|PR01365 protein-coding 1313241 R3HDML R3H domain containing-like 12477932 140902 NM_178491,AL117382,CH471077,BC107048 NP_848586,CAC04190,EAW75928,AAI07049,Q9H3Y0 Hs.580807 GDB:11507561 MGC129564|dJ881L22.3 protein-coding 735722 RAB10 RAB10, member RAS oncogene family 17353931,16154996,15855153,15489334,14702039,12578829,12477932,11230166,10931946,9918381,7688123 10890 AF297660,AF498945,AK023223,AK025136,AL136650,NM_016131,AC011742,AC013449,CH471053,AF086917,AF091032,AF106681,BC000896,CR457303,CR606343,CR606383,CR615601,CR623312,CR618434 AAG13413,AAM21093,BAB14474,CAB66585,NP_057215,AAX93140,AAY24262,EAX00710,EAX00711,AAP97147,AAF00045,AAD43034,AAH00896,CAG33584,P61026,Q53SX4,Q53T70,Q9UL28 Hs.467960,Hs.643072 GDB:9958451 ras-related protein rab10 protein-coding 1343833 RAB11A RAB11A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. 11163216,12145319,15229288,17854769,17538027,17476295,17462998,17426287,17157409,17030804,16730941,16473307,16214890,16189514,16126723,15489334,15304524,15280022,15190120,15188492,15181150,15173169,14702039,14699104,12540381,12477932,12470645,12435603,11994279,11786538,11495908,11481332,11408590,10512627,10464283,10369872,10077598,9719562,9662449,1711847,1704119,15569681,17353931,12554740 8766 NM_004663,AC084854,CH471082,AF000231,AF498946,AK054930,BC013348,BI550703,BT020151,BT020154,CR407669,CR536493,CR606451,X53143,X56740 NP_004654,EAW77752,EAW77753,AAC32887,AAM21094,AAH13348,AAV38953,AAV38956,CAG28597,CAG38732,CAA37300,CAA40064,P62491,ABM83980,ABM87302 Hs.321541 GDB:9956862 MGC1490|YL8 protein-coding 68529 RAB11B RAB11B, member RAS oncogene family 1580863 7811277,16545962,15489334,14627637,12477932,11495908,11481332,11408590,10942597,9373149,8125298 9230 AC136469,CH471139,AF498947,AK225036,AK225642,BC110081,BT019535,BT019536,CR536494,CR541691,CR590650,CR592057,CR592281,CR593189,CR593439,CR594452,CR596517,CR597131,CR600179,CR600800,CR605393,CR606224,CR606883,CR609776,CR613165,CR613277,CR618647,CR618667,CR620665,CR621845,CR624386,CR625102,CR626143,NM_004218,CR626645,D38516,EF560724,X79780 NP_004209,EAW68925,EAW68926,EAW68927,AAM21095,AAI10082,AAV38342,AAV38343,CAG38733,CAG46492,ABQ59034,CAA56176,Q15907,Q5U0I1,Q6FHR0,Q6FI42 Hs.626404 GDB:698171 H-YPT3|MGC133246 protein-coding 1347457 RAB11FIP1 RAB11 family interacting protein 1 (class I) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP1 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM] 17353931,17081983,16964243,16920206,16216915,16049696,15769254,15489334,15355514,15280022,15181150,15134434,14702039,12477932,11944901,11786538,11495908 80223 NM_025151,NM_001002233,AC130304,CH471080,CQ859756,AF368294,AK026177,AK026275,AK090437,AK092296,AK122583,AK124121,AK124422,AK226111,AK291781,AL832155,AL833169,AY280966,AY280967,AY280968,AY280969,AY280970,AY367050,BC001314,BC054881,BC077720,DQ083995,NM_001002814,DQ236342 NP_001002814,NP_079427,NP_001002233,EAW63347,EAW63348,EAW63349,CAH25928,AAM09571,BAB15424,BAC03418,BAC56924,BAF84470,AAQ18784,AAQ18785,AAQ18786,AAQ18787,AAQ18788,AAR15506,AAH77720,AAY86040,ABB43161,Q307T1,Q4JIW2,Q67C35,Q6WKZ3,Q6WKZ4,Q6WKZ5,Q8NF43 Hs.696035 DKFZp686E2214|FLJ22524|FLJ22622|MGC78448|NOEL1A|RCP|rab11-FIP1 protein-coding 1344867 RAB11FIP2 RAB11 family interacting protein 2 (class I) 17626244,16775013,16251358,15489334,15324660,15304524,15173169,15004234,12477932,12470645,12393859,12364336,11994279,11944901,11495908,11481332,10231032 22841 NM_014904,AC022395,CH471066,AB023158,AY037299,BC075073,BC075074,BX647717,DQ013303 NP_055719,EAW49423,BAA76785,AAK68635,AAH75073,AAH75074,AAY67796,Q3I768,Q7L804 Hs.173656 KIAA0941|Rab11-FIP2|nRip11 protein-coding 1353989 RAB11FIP3 RAB11 family interacting protein 3 (class II) Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM] 1580863 11481332,17628206,17394487,17030804,15616553,15601896,15489334,15158446,12800201,12477932,12470645,11913976,11535061,11495908,11157797,10593962,9734811 9727 NM_014700,AE006463,AL023881,AL049542,CH471112,Z98882,AB014565,AF395731,AY130007,BC051360,CR622821 NP_055515,AAK61232,CAI95593,EAW85805,EAW85806,EAW85807,EAW85808,EAW85809,EAW85810,BAA31640,AAL12940,AAN05091,AAH51360,O75154,Q7Z5E9 Hs.531642 KIAA0665|Rab11-FIP3 protein-coding 1348691 RAB11FIP4 RAB11 family interacting protein 4 (class II) 1580863 17632510,16713569,16148947,15489334,14702039,12696059,12477932,12470645,11468690,11347906,10843809 84440 NM_032932,AC003101,AC135724,CH471147,AB058724,AJ314646,AK055019,AK074060,AK074341,AK097424,AL359563,AL831830,AY169244,BC004515,BC006240,BC047674,BC093914,BC094803,BC101517,BC023618 NP_116321,EAW80265,BAB47450,CAC44535,BAB84886,BAC05045,CAD38543,AAO21970,AAH93914,AAI01518,Q86YS3,Q8TER2 Hs.406788 FLJ00131|KIAA1821|MGC11316|MGC126566|RAB11-FIP4 protein-coding 1346029 RAB11FIP5 RAB11 family interacting protein 5 (class I) 11278501,17854769,17081983,15489334,15324660,15144186,14702039,12684040,12477932,12470645,11495908,10545525,10048485,12554740,11481332,11163216 26056 NM_015470,AC010913,AC012366,CH471053,AB020664,AF153085,AF334812,AK023823,AK024727,AL117579,BC035013,BC099902,CR590374 NP_056285,AAX88900,AAY14746,EAW99749,EAW99750,EAW99751,BAA74880,AAF34356,AAK20892,CAB56002,AAH35013,Q2Z1P3,Q53T28,Q9BXF6,Q9UFM0,ABM81917,ABM85094 Hs.24557 DKFZP434H018|GAF1|KIAA0857|RIP11|pp75 protein-coding 1346694 RAB12 RAB12, member RAS oncogene family 15489334,12477932 201475 BC098407,NM_001025300,AP001793,CH471113,AK127824,BC050338,BC071600 AAH71600,AAH98407,Q6IQ22,NP_001020471,EAX01616 Hs.270074 FLJ45927|MGC104724 protein-coding 733233 RAB13 RAB13, member RAS oncogene family 1580863 8294494,17891173,16710414,16381901,15761153,15528189,15489336,15489334,14702039,12477932,11076863,9918381,9712853,9605854,8375503,16189514 5872 CR610750,CR612138,CR614708,X75593,AL358472,CH471121,AF498948,AK128675,AK291580,AY423722,BC000799,BC009227,BC073168,BC094846,BT019700,BT019701,NM_002870 CAA53266,P51153,Q504R6,CAL37529,CAL38030,CAL38143,CAL38342,CAL38614,CAL38685,NP_002861,CAI14031,EAW53248,EAW53249,EAW53250,AAM21096,BAF84269,AAS00485,AAH00799,AAH09227,AAH73168,AAH94846,AAV38506,AAV38507 Hs.151536 GDB:9806346 GIG4 rab13 protein-coding 737104 RAB14 RAB14, member RAS oncogene family 15004230,17353931,11256614,16381901,15761153,15489336,15489334,15164053,14702039,12477932,11790131,11230166,11149929,11076863,10931946,9792283,9110174,8619474 51552 AF052113,AF112206,AF152463,AF203689,AF498949,AK000447,AK023524,AK090889,AL110256,AL162081,AY553875,BC006081,BC013057,CR457394,CR606162,CR615575,NM_016322,AL137068,CH471090 EAW87487,EAW87488,AAF17194,AAF00150,AAF19400,AAM21097,BAB14598,CAB82414,AAS64573,AAH06081,CAG33675,P61106,Q0JTD5,CAL38170,CAL38228,NP_057406,CAD20124,CAI12361 Hs.371563,Hs.705444 GDB:11507563 FBP|RAB-14 gtpase rab14 protein-coding 1351715 RAB15 RAB15, member RAS onocogene family 16195351,15489334,12578829,12508121,12477932,12105226,11697911,10837464,10428799 376267 NM_198686,AL139022,CH471061,BC014511,BC040679,BX248046,BX640825 NP_941959,EAW80893,EAW80894,EAW80895,CAE45901,P59190,Q6MZX6,AAH40679,CAD62353 Hs.512492 protein-coding 1346493 RAB17 RAB17, member RAS oncogene family 1580863 17353931,11256614,16381901,15761153,15489336,15489334,14702039,12477932,11230166,11076863,10329441,9624171,9373149,8486736,8125298 64284 NM_022449,AC104667,CH471063,AK022600,AK225423,AL136645,BC000929,BC007907,BC009827,BC023661,BC050426,BX647412,CR457282,CR533454,CR591120,CR600396,CR606784,CR621894,CR624533,CR626220 NP_071894,AAY24047,EAW71118,EAW71119,EAW71120,BAB14121,CAB66580,AAH00929,AAH07907,AAH09827,AAH50426,CAG33563,CAG38485,Q53QV6,Q6FIH2,Q6IA73,Q6PJZ0,Q9H0T7,CAL37678 Hs.708264 GDB:11507565 FLJ12538 protein-coding 1318941 RAB18 RAB18, member RAS oncogene family 1580863 10648831,11256614,16808905,16381901,16207721,16147880,15914536,15489336,15489334,15164054,14702039,12800201,12477932,11230166,11076863,10931946,9373149,8889549,8125298,7706395,7566098 22931 BT009840,CR533455,CR590751,CR599854,AJ277145,AL138920,CH471072,AB209698,AF087860,AF136974,AF137372,AF498950,AF532968,AK001555,AK223153,AL136734,AY574034,BC015014,BC029350,NM_021252 AAP88842,CAG38486,Q0JTZ2,Q56UN9,Q59EW3,Q5W0I9,Q5W0J0,Q7Z5D3,Q9NP72,CAL38020,NP_067075,CAB86486,CAH70590,CAH70591,CAH70592,EAW86054,EAW86055,BAD92935,AAP97170,AAG49435,AAF61433,AAM21098,AAP85637,BAD96873,CAB66668,AAU08232,AAH15014,AAH29350 Hs.406799 GDB:9957740 RAB18LI1 protein-coding 1604143 RAB19 RAB19, member RAS oncogene family 12690205 401409 NM_001008749,AC069335,AC093087,CH236950,CH471070,AF091033 NP_001008749,EAL24028,EAL24029,EAW83948,AAF00046,A4D1S5 Hs.583545 RAB19B protein-coding 1350604 RAB1A RAB1A, member RAS oncogene family The small GTPase RAB1 controls vesicle traffic from the endoplasmic reticulum (ER) to the Golgi apparatus. Rab1 belongs to the Ras superfamily of GTPases that cycle between inactive GDP-bound and active GTP-bound forms (Allan et al., 2000 [PubMed 10903204]).[supplied by OMIM] 2501306,18167358,17901050,17684057,16381901,15489336,15489334,14702039,12788069,12656988,12538640,12477932,11739401,11739271,11285137,11256614,11230166,11076863,10903204,9918381,9730828,9341137,8838809,8356066,8294464,7991565,1902553,16189514 5861 AC007318,AF398475,CH471053,AF498929,AK055927,AL050268,BC000905,BG704216,BT019528,BT019529,BX571747,NM_004161,CR533479,CR536488,CR593530,CR603642,CR606852,CR616184,M28209 NP_004152,AAK94463,EAW99917,EAW99918,EAW99919,EAW99920,EAW99921,EAW99922,EAW99923,EAW99924,EAW99925,AAM21077,BAB71048,CAB43369,AAH00905,AAV38335,AAV38336,CAE11872,CAG38510,CAG38727,AAA60240,P62820,Q5U0I6,Q6FIE7,Q96RD8,CAL37562,ABM85010 Hs.310645 GDB:118857 DKFZP564B163|RAB1|YPT1 protein-coding 1345480 RAB1B RAB1B, member RAS oncogene family 1580863 17353931,11256614,17947549,17429068,16381901,15796781,15694364,15489336,15489334,12477932,12051767,11306556,11230166,11076863,10493955,9437002,9030196,8836150,7592724,1918138 81876 NM_030981,AP001107,AF092437,AJ245875,AK292086,AL136635,BC028331,BC071169,BG717501,CR533462,CR591273,CR592347,CR594164,CR595400,CR598883,CR599415,CR602885,CR605155,CR612971,CR620997,CR624810,CR625419,U66621 NP_112243,AAP97212,CAC21570,BAF84775,CAB66570,AAH71169,CAG38493,AAC51196,Q0JTT9,Q6FIG4,Q92927,Q9H0U4,Q9H1C9,CAL38073 Hs.300816 GDB:11507567 protein-coding 1604893 RAB1C RAB1C, member RAS oncogene family pseudogene 9030196 441400 NG_005395,AL513165,U66622 AAC51197 Hs.651788 pseudo 1315116 RAB20 RAB20, member RAS oncogene family 1580863 16613320,15489334,14702039,12477932,11697911,7706395 55647 Q5T9X5,Q9NX57 NM_017817,AL139385,CH471085,AJ272065,AK000436,AK000446,BC026025 NP_060287,CAI17006,EAX09113,CAC81247,BAA91163,BAA91171,AAH26025,Q5T9X5,Q9NX57,ABM83071,ABM86266 Hs.508720 GDB:11507569 FLJ20429 protein-coding 1350890 RAB21 RAB21, member RAS oncogene family 1331374,1580863 11256614,16754960,16381901,15489336,15489334,12477932,11697911,11076863,10887961,9918381,7788527 1331374 23011 NM_014999,AC012018,AC089984,CH471054,AF091035,BC009109,BC021901,BC092475,CR590140,CR600765,CR604873,D42087 NP_055814,EAW97270,EAW97271,AAF00048,AAH09109,AAH21901,AAH92475,BAA07682,Q96GX3,Q9UL25,CAL38568 Hs.524590 GDB:9784772 KIAA0118 protein-coding 1323682 RAB22A RAB22A, member RAS oncogene family The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. 1580863 11870209,14613930,16537905,16189514,15761153,15748882,15489334,15181155,14702039,12477932,11780052,10887961,10329441,9918381 57403 AK054767,AK091180,BC007036,BC015710,BC016864,BC042545,BC063457,BI457862,BT007046,CR610918,NM_020673,AL035455,AL049985,CH471077,AF091034,AJ276210 CAC10538,AAH07036,AAH15710,AAH63457,AAP35695,Q96IY7,Q9UL26,NP_065724,CAC15020,EAW75496,EAW75497,AAF00047 Hs.529044 GDB:10796408 MGC16770 protein-coding 1315728 RAB23 RAB23, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It may be involved in small GTPase mediated signal transduction and intracellular protein transportation. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. 1580863 15489334,14617350,14612978,14574404,12878157,12477932,11042152,17503333,17373734 51715 NM_016277,NM_183227,AL031321,CH471081,AB025427,AB034244,AF161486,AF498951,AU280196,AY585189,BC015021,CR621808,CR749371 NP_057361,NP_899050,CAI21564,EAX04476,EAX04477,EAX04478,EAX04479,BAB40309,BAA87324,AAF29101,AAM21099,AAT79492,AAH15021,CAH18224,Q68DJ6,Q9ULC3 Hs.555016 GDB:11500388 DKFZp781H0695|HSPC137|MGC8900 protein-coding 1344346 RAB24 RAB24, member RAS oncogene family 1580863 12477932,12323076,10660536,16344560,15489334,14702039,8126105 53917 NM_001031677,NM_130781,AC146507,CH471195,AF087904,AF258583,AK021761,AL833898,BC010006,BC015534,BC021263,BT007268,CR592574,CR595135,CR597078,CR598394,CR598835,CR602575,CR608115,CR613352,CR615395,CR620905,DA058886 NP_001026847,NP_570137,EAW85024,EAW85025,EAW85026,EAW85027,EAW85028,EAW85029,AAP97202,AAG23786,BAB13887,CAD38754,AAH10006,AAH15534,AAH21263,AAP35932,Q8WY67,Q969Q5,Q9HAG2,ABM81962,ABM85141 Hs.16258 GDB:10796410 protein-coding 1318219 RAB25 RAB25, member RAS oncogene family 1580863 17353931,17925226,17393986,15761153,15489334,12477932,11697911,11591653,11495908,11481332,11408590,9389793,8360141 57111 NM_020387,AL355388,CH471121,AF083124,AF274025,BC004416,BC009831,BC033322,CR599507 NP_065120,CAH72638,EAW53003,AAF98238,AAM69362,AAH04416,AAH09831,AAH33322,P57735,Q5VYA2 Hs.632469 GDB:11507571 CATX-8 protein-coding 736116 RAB26 RAB26, member RAS oncogene family 1580863 11043516,16696853,15616553,15489334,12578829,12477932,10857477,8889548 25837 NM_014353,AC005346,AC009065,CH471112,AB027137,AF498952,AY646153,BC007681,BC066913,CB242472,CR598645 NP_055168,EAW85550,EAW85551,EAW85552,BAA84707,AAM21100,AAU88191,AAH66913,Q3L6K5,Q9ULW5 Hs.3797 GDB:11504545 V46133 protein-coding 1354398 RAB27A RAB27A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. 1601587,1580863,1600821 9066979,11266474,18311812,17352418,17255357,17090228,17081065,16965270,16923811,16880209,16762324,16630545,16278825,16004602,15489334,15059972,14699162,12802062,12643545,12590134,12578829,12531900,12477932,12446441,12189142,12148598,12122117,12107410,12101244,12062444,12058346,12051743,12006666,11980908,11865063,11856727,11773082,11752456,11266473,10931946,10835631,10571040,7592656,2507536,14593078 1601587,1600821 5873 NM_183235,NM_183236,NM_004580,NM_183234,AC011912,AC018926,AF154840,AF443871,CH471082,AF125393,AF498953,AV661679,BC107680,BC132800,BM014705,CA398159,CR457076,CR536496,CR541693,U38654,U57094 NP_899058,NP_899059,NP_004571,NP_899057,AAD47629,AAL39097,EAW77476,EAW77477,EAW77478,EAW77479,AAD43049,AAM21101,AAI07681,AAI32801,CAG33357,CAG38735,CAG46494,AAC50271,AAC51195,P51159,Q6IAS8 Hs.654978 GDB:4642792 GS2|HsT18676|MGC117246|RAB27|RAM protein-coding 732208 RAB27B RAB27B, member RAS oncogene family 1580863 9066979,15489334,14699162,12907454,12578829,12477932,12122117,11956164,11856727,11178108,2507536,1445946,16189514 5874 NM_004163,AC007673,AC098848,CH471096,AF329499,AF498954,BC027474,U57093 NP_004154,EAW63010,AAK11243,AAM21102,AAH27474,AAC51194,O00194,ABM83356,ABW03319 Hs.25318 GDB:4642808 protein-coding 736462 RAB28 RAB28, member RAS oncogene family 633759,1580863 8647132,17411337,15489334,12477932 633759 9364 NM_001017979,NM_004249,AC006226,AC006445,AC020729,CH471069,AF498955,BC018067,BC035054,CR592237,CR597076,CR612152,CR616293,CR621879,X94703 NP_001017979,NP_004240,EAW92711,EAW92712,AAM21103,AAH18067,AAH35054,CAA64364,P51157,Q8WVF3 Hs.656060 GDB:9956077 MGC41862 protein-coding 68446 RAB2A RAB2A, member RAS oncogene family Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rabs are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking. The mammalian RAB proteins show striking similarities to the S. cerevisiae YPT1 and SEC4 proteins, Ras-related GTP-binding proteins involved in the regulation of secretion.[supplied by OMIM] 2501306,8910601,17716866,17081065,16189514,15489334,15485821,14570876,12477932,12376746,11739401,10996854,10512627,9792283,9110174,8619474,3057444,1648736 5862 NM_002865,AC068389,AC079065,CH471068,AF070629,AF498930,BC008929,BT019695,CR605346,M28213,X12953 NP_002856,EAW86827,EAW86828,AAC25389,AAM21078,AAH08929,AAV38501,AAA60241,CAA31411,O75546,P61019 Hs.369017 GDB:118858 RAB2 rab2, member ras oncogene family protein-coding 1319277 RAB2B RAB2B, member RAS oncogene family Members of the Rab protein family are nontransforming monomeric GTP-binding proteins of the Ras superfamily that contain 4 highly conserved regions involved in GTP binding and hydrolysis. Rab proteins are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking; see MIM 179508.[supplied by OMIM] 1580863 15761153,15489334,14702039,12477932,12376746 84932 NM_032846,AL161747,CH471078,AF091029,AF468652,AK027730,BC020839,BC066366,BX647601 NP_116235,EAW66382,EAW66383,EAW66384,AAF00042,AAN86142,BAB55326,AAH20839,AAH66366,CAI46103,Q5HYI5,Q6NZ33,Q8WUD1,Q96K32,Q9UL31,ABM84169,ABM87571 Hs.22399 FLJ14824 protein-coding 1319882 RAB30 RAB30, member RAS oncogene family 1580863 9792283,15761153,15489334,12477932,8863739 27314 NM_014488,AP000893,AP001767,CH471076,AF498956,AK291376,BC014213,BX641138,CR542106,U57092 NP_055303,EAW75078,EAW75079,EAW75080,EAW75081,AAM21104,BAF84065,AAH14213,CAE46061,CAG46903,AAC50774,Q15771,Q6MZH2,ABM83557,ABM86797,ABW03515 Hs.40758 GDB:10796053 protein-coding 734458 RAB31 RAB31, member RAS oncogene family 1580863 8863739,17678623,17081983,16344560,15489334,15146197,12477932,11784320,9373149,8889548,8125298,1178432 11031 NM_006868,AC006238,AP000902,CH471113,AF183421,AF234995,AF498957,AI198863,AK223505,BC001148,BT020027,BT020028,BU608212,BU944638,CB243279,CK005533,CN429637,CR407659,CR609335,CR623736,DA068356,U57091,U59877 NP_006859,EAX01595,EAX01596,AAG09690,AAG13847,AAM21105,BAD97225,AAH01148,AAV38830,AAV38831,CAG28587,AAC50773,AAB02832,Q13636,Q53EY4,ABM83504,ABM86720 Hs.99528,Hs.702073 GDB:9956216 Rab22B gtp-binding protein rab0 protein-coding 1345972 RAB32 RAB32, member RAS oncogene family 1580863 16557577,15489334,14574404,12477932,12186851,11784320,12672969 10981 NM_006834,AL133539,CH471051,AF498958,BC015061,BT020016,U59878,U71127 NP_006825,CAC34968,EAW47833,AAM21106,AAH15061,AAV38819,AAB02833,AAB09599,Q13637,ABM83808,ABM87130 Hs.287714 GDB:9958681 protein-coding 1344985 RAB33A RAB33A, member RAS oncogene family The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport. 1580863 7688322,16189514,16136464,15772651,15489334,14702039,12477932,9712825,9512502 9363 NM_004794,AL139234,CH471107,AF498959,AK094927,BC001157,BC001704,BC009996,BT007038,D14889 NP_004785,EAX11808,AAM21107,AAH01157,AAH09996,AAP35687,BAA03606,Q0P6J8,Q14088 Hs.654356 GDB:9958716 MGC1488|RabS10 protein-coding 1318074 RAB33B RAB33B, member RAS oncogene family 1580863 11256614,11230166,9512502,15815621,15761153,15489334,12477932,11718716 83452 NM_031296,AC114743,CH471056,AF350420,AL136904,BC036064,BC111977 NP_112586,AAY40936,EAX05116,AAL83916,CAB66838,AAH36064,AAI11978,Q5U602,Q9H082 Hs.591679 GDB:11507573 DKFZP434G099|MGC138182 protein-coding 1312861 RAB34 RAB34, member RAS oncogene family RAB proteins, like RAB34, are small GTPases that regulate vesicle budding, docking, and fusion along endocytosis and exocytosis pathways (Chen et al., 2003 [PubMed 12684051]).[supplied by OMIM] 1580863 18005733,17881736,16303743,16138900,15996637,15761153,15489334,14702039,14668488,12684051,12477932,12475955,12446704 83871 AC010761,CH471159,CQ783588,AF322067,AF327350,AJ277106,AK027312,AK074689,BC016841,BC066904,BC091510,BT006702,CR596043,CR600820,CR612137,CR612854,CR613380,CR614283,CR620011,NM_031934,CR622817 NP_114140,EAW51127,EAW51128,EAW51129,EAW51130,CAF86756,AAK09397,AAL05587,CAC81760,BAB55034,BAC11141,AAH16841,AAH66904,AAH91510,AAP35348,Q6NXT3,Q96PJ7,Q9BZG1,ABM92207,ABM84682 Hs.301853 GDB:11507575 RAB39|RAH protein-coding 1314936 RAB35 RAB35, member RAS oncogene family 1580863 7811277,16950109,17081065,16600182,16541075,15489334,14702039,12477932 11021 NM_006861,AC004812,CH471054,CS174348,AF498960,AK001309,AK125543,BC015931,BC017753,BM467132,BQ233709,BT020024,CR536486,CR541683,CR622981,CR623183,X79781 NP_006852,AAC83182,EAW98163,EAW98164,EAW98165,CAJ34551,AAM21108,AAH15931,AAV38827,CAG38725,CAG46484,CAA56177,Q15286,ABM92203,ABM92220,ABM84676 Hs.524788,Hs.709467 GDB:454762 H-ray|RAB1C|RAY protein-coding 1347973 RAB36 RAB36, member RAS oncogene family 1580863 9920784,16021519,15489334,15461802,12477932,11076863,10607907,10591208 9609 NM_004914,AC000029,AC000102,CH471095,AB023061,AF133588,AY336745,BC017436,BC104989,BC104991,BE886845,CR456553 NP_004905,EAW59561,EAW59562,BAA75195,AAF02485,AAQ16115,AAI04990,AAI04992,CAG30439,O95755,AAI11853,CAK54584,CAK54883 Hs.369557 GDB:9957781 protein-coding 1312361 RAB37 RAB37, member RAS oncogene family Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM] 737633,1580863 15308636,16189514,15489334,14702039,12665801,12578829,12477932,10722846 737633 326624 NM_175738,NM_001006637,NM_001006638,AC016888,AC064805,CH471099,AK054846,AK057069,AK098068,AK127073,BC016615,BC040547,CR601310 NP_783865,NP_001006638,NP_001006639,EAW89177,EAW89178,EAW89179,EAW89180,EAW89181,EAW89182,BAC05227,AAH16615,AAH40547,Q8IWA7,Q96AX2 Hs.592097 FLJ30284|FLJ32507 protein-coding 734295 RAB38 RAB38, member RAS oncogene family 1580863,1357409 10910072,17081065,15761153,15489334,12850305,12643545,12477932,11337364 1357409 23682 NM_022337,AP001642,AP005436,CH471185,DQ178619,AF136172,AF235022,BC015808,BT009842,CR615812 NP_071732,EAW59365,EAW59366,ABA03166,AAP97262,AAG30731,AAH15808,AAP88844,P57729,Q7Z4W7,ABM82052,ABM85231 Hs.591975 GDB:10794893 NY-MEL-1|rrGTPbp rab38, member of ras oncogene family protein-coding 1322661 RAB39 RAB39, member RAS oncogene family 1580863 9119394,15489334,12477932 54734 NM_017516,AP001024,AP003307,CH471065,AK292969,BC028064,X99962 NP_059986,EAW67100,BAF85658,AAH28064,CAA68227,Q14964 Hs.354906 GDB:11507577 protein-coding 1354105 RAB39B RAB39B, member RAS oncogene family This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. 1580863 11256614,16381901,15772651,15489336,15489334,14702039,12477932,12438742,11230166,11076863 116442 NM_171998,NG_005114,AL356738,CH471172,AK056209,AL834460,AY052478,BC009714,BX108796 NP_741995,CAI41468,EAW72626,CAD39120,AAL12244,AAH09714,Q0JRZ2,Q96DA2,CAL38722 Hs.632832 GDB:11508862 protein-coding 735498 RAB3A RAB3A, member RAS oncogene family 1580863 10859313,9194562,17625073,16584842,16099449,15489334,15159548,15057824,15005721,12937130,12590134,12578829,12535645,12477932,12244319,12176990,12051743,11884041,11846002,11809763,11773082,11563859,11516400,11377421,11134008,10574328,10511453,10025402,9341137,9013620,8706741,8432525,8226995,7991565,7532276,2687157,2501306,1648736,16189514,14734538 5864 NM_002866,AC068499,AF157809,CH471106,AF254795,AF498931,AK289559,BC011782,M28210 NP_002857,AAF67385,AAD46811,EAW84672,EAW84673,EAW84674,AAF67748,AAM21079,BAF82248,AAH11782,AAA60242,P20336 Hs.27744 GDB:120332 protein-coding 736582 RAB3B RAB3B, member RAS oncogene family 1580863 2501306,16710414,15761153,15489334,15159548,12901864,12578829,12477932,11832247,11741295,8886977,8636125,8175882,1999336,16189514 5865 AF498932,AK291653,BC005035,M28214,NM_002867,AL445685,AL589663,CH471059 EAX06802,AAM21080,BAF84342,AAH05035,AAA60243,P20337,NP_002858,CAI17027 Hs.123072 GDB:120333 rab3b protein protein-coding 732895 RAB3C RAB3C, member RAS oncogene family 737633,1580863 15489334,15159548,12578829,12477932,12296628,12167638,8543030 737633 115827 NM_138453,AC008852,AC016642,AC034250,CH471123,AY026936,BC013033 NP_612462,EAW54978,EAW54979,AAK08968,AAH13033,Q96E17 Hs.482173 protein-coding 736647 RAB3D RAB3D, member RAS oncogene family 1580863 10023084,15489334,15257287,15159548,14566969,12578829,12477932,12192047,11903042,10072586,10022613,9178809,7532276,16189514 9545 NM_004283,AC011472,AC024575,AC098777,CH471106,AF019226,AF081353,AF498933,BC007960,BC016471 NP_004274,EAW84188,EAW84189,EAW84190,AAC72918,AAM21081,AAH16471,O95716 Hs.655274 GDB:9957310 D2-2|GOV|RAB16|RAD3D protein-coding 1604828 RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (MIM 609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005 [PubMed 15696165]).[supplied by OMIM] 9030515,10859313,9852129,18286824,17567985,17081983,15696165,15489334,14702039,12786944,12477932,10532171,9733780,8249951,7584044,14593078 22930 NM_012233,AC017031,AC020602,CH471058,AK022494,AL096752,BC020303,BC022977,BC036732,BC071602,BC146809,BP872264,D31886 NP_036365,EAX11637,EAX11638,EAX11639,EAX11640,EAX11641,CAH56411,AAH22977,AAI46810,BAA06684,Q15042 Hs.306327 DKFZp434A012|KIAA0066|P130|RAB3GAP|RAB3GAP130|WARBM1 protein-coding 1604372 RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in Ca(2+)-dependent exocytosis. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; MIM 602536) and a 150-kD noncatalytic subunit (RAB3GAP2) (Nagano et al., 1998 [PubMed 9733780]).[supplied by OMIM] 9733780,17353931,16710414,16532399,15696165,15231747,14702039,12477932,12168954,10048485 25782 NM_012414,AC103590,AL445435,CH471100,AB020646,AF004828,AF255648,AK021928,AK027485,AK291234,AL117631,BC036513,BC098383,BC131573,BC146760,CR592496 NP_036546,EAW93304,BAA74862,AAC35881,AAG44636,BAB13939,BAF83923,CAB56022,AAI46761,Q9H2M9 Hs.654849 DKFZP434D245|FLJ14579|KIAA0839|RAB3-GAP150|RAB3GAP150|RP11-568G11.1|p150 protein-coding 1354248 RAB3IL1 RAB3A interacting protein (rabin3)-like 1 16189514,12477932,11516400 5866 NM_013401,AP006260,CH471076,AF084557,BC022239,BC051820,CR615485,CR624851 NP_037533,EAW73979,EAW73980,EAW73981,AAF28399,AAH22239,AAH51820,Q8TBN0,ABM82110,ABM85292 Hs.13759 GDB:9863225 GRAB protein-coding 732155 RAB3IP RAB3A interacting protein (rabin3) 12007189,16344560,16189514,15489334,14702039,12477932,12221131,9373149,8125298,7532276,123217 117177 NM_022456,NM_175624,NM_175623,NM_175625,NM_001024647,AC025263,CH471054,AJ312896,AJ312897,AJ312898,AJ312899,AJ312900,AJ312901,AK026201,AK027566,AK027671,AK057844,AK123728,AK225441,AY685922,BC002556,BC014553,BC015548,BC059358,CR607211,CR616530,DA211792 NP_071901,NP_783323,NP_783322,NP_783324,NP_001019818,EAW97237,EAW97238,EAW97239,EAW97240,EAW97241,EAW97242,CAC59835,CAC59836,CAC59837,CAC59838,CAC59839,CAC59840,BAB15391,BAB55202,BAB55283,AAT94123,AAH15548,AAH59358,Q68K28,Q96QF0 Hs.258209 GDB:11508866 FLJ14660|FLJ22548|MGC71495|RABIN3 rabin 3 protein-coding 1354221 RAB40A RAB40A, member RAS oncogene family 1580863 16923123,15772651,15489334,14702039,12578829,12477932,12076535,11856727,11773082,11697911 142684 NM_080879,CH471190,Z69733,AB232637,AF132748,AF422143,AK056859,BC074854,BC074855,BC113501,BC117232,H24206 NP_543155,EAW54707,EAW54708,CAI41993,BAF02899,AAL75949,AAL60514,AAH74854,AAH74855,AAI13502,AAI17233,Q8WXH6 Hs.27453,Hs.706904 GDB:11507581 MGC142061|RAR2A|Rar-2 protein-coding 2291808 RAB40AL RAB40A, member RAS oncogene family-like 15772651,15489334,12477932,12145744,12076535 282808 NM_001031834,Z95624,BC101169,BC101170,BC101171,BC101172 NP_001027004,CAB09136,AAI01170,AAI01171,AAI01172,AAI01173,P0C0E4 Hs.449517 MGC119958|MGC119959|MGC119960|MGC119961|RAR2|RLGP protein-coding 1313826 RAB40B RAB40B, member RAS oncogene family The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. 1580863 15489334,14702039,12477932,12076535,11697911 10966 NM_006822,AC024361,CH471099,AB209711,AK095782,AK124376,BC018039,BC035814,CR598763,CR604923,CR619045,U05227 NP_006813,EAW89815,BAD92948,AAH18039,AAA17031,Q12829,Q59EV0 Hs.484068 GDB:9958663 FLJ42385|RAR|SEC4L protein-coding 1349011 RAB40C RAB40C, member RAS oncogene family 1580863 15616553,12477932,12076535,11697911,11157797 57799 NM_021168,AE006464,CH471112,Z84479,Z84779,AK000584,AY823398,BC001581,BC028696 NP_066991,AAK61236,EAW85791,EAW85792,EAW85793,EAW85794,CAB06484,AAV83924,AAH28696,Q5PXE8,Q6PIU5,Q96S21 Hs.459630 GDB:11507583 RARL|RASL8C protein-coding 1347777 RAB41 RAB41, member RAS oncogene family 15772651,12477932,11697911 347517 NM_001032726,AL357752,CH471132,BC117239 NP_001027898,CAI41489,EAX05347,AAI17240,Q17RQ0,Q5JT25 Hs.276327 GDB:11508951 rab41, member ras homolog family protein-coding 1604758 RAB42 RAB42, member RAS oncogene family 16710414,15489334,12477932 115273 NM_152304,AL513497,CH471059,BC033175 NP_689517,CAI22290,EAX07684,EAX07685,AAH33175,Q8N4Z0 Hs.652321 MGC45806|RP4-669K10.6 protein-coding 1346189 RAB42 RAB42, member RAS homolog family 337996 AK026009 1603859 RAB43 RAB43, member RAS oncogene family 17684057,17562788,15489334,15018353,12477932 339122 NM_198490,AC108673,CH471052,AK128345,AK291014,AY166852,BC062319,BC073812,CR596493,CR607147,CR620019,D45418 NP_940892,EAW79283,BAF83703,AAO17291,AAH62319,Q86YS6 Hs.546542 ISY1|MGC90481|RAB11B|RAB41 protein-coding 1604417 RAB43P RAB43 pseudogene 15018353 440375 NG_005358,AC012186,AC092368 RAB41P pseudo 1351771 RAB44 RAB44, member RAS oncogene family 387067 Z85996 CAD92808,Q7Z6P3 RASD3|RASL13|dJ431A14.3 protein-coding 1351964 RAB4A RAB4A, member RAS oncogene family 1580863 2501306,18227069,16935861,16926431,16413502,16389071,16381901,15907487,15689494,15489336,15489334,15292453,15280022,14617813,12832475,12559036,12477932,11788822,11786538,11256614,11243854,11172003,11076863,11063739,10888662,10698684,10512627,10329441,9524117,9373149,9013719,8356066,8125298,8112321,1999336,1902553,1425574,1117200,16189514 5867 NM_004578,AL117350,AL162595,CH471098,AF498934,AK223009,AY585832,BC002438,BC004309,CR602754,CR604213,CR604401,CR605031,CR615332,CR617877,M28211 NP_004569,CAI22870,CAI19037,EAW69889,EAW69890,EAW69891,EAW69892,EAW69893,EAW69894,EAW69895,AAM21082,BAD96729,AAT91347,AAH02438,AAH04309,AAA60244,P20338,Q53GC2,Q5T7P7,CAL37818,CAL38462,ABM83562,ABM86800 Hs.296169 GDB:118859 RAB4 protein-coding 733928 RAB4B RAB4B, member RAS oncogene family 15498874,15489334,12477932,10329441 53916 NM_016154,AC008537,CH471126,AF165522,AF217985,AF498935,AK024845,BC033081,BC046927 NP_057238,EAW57001,EAW57005,EAW57006,AAD45923,AAG17228,AAM21083,AAH33081,AAH46927,P61018,Q6PIK3 Hs.631539 GDB:10796411 FLJ78649|MGC52123 ras-related gtp-binding protein 4b protein-coding 1342715 RAB5A RAB5A, member RAS oncogene family 1580863 2501306,9697774,15016378,14613930,8521472,18005733,17611268,17581628,17524504,17473071,17301152,17301141,17173037,17081065,16554017,16381901,15782196,15489336,15489334,15388334,15328530,15078902,15023538,15014045,14669515,14644159,14617813,14600265,12972505,12761223,12668728,12612085,12477932,12433916,12432064,12359748,12034881,11884531,11792815,11703925,11682489,11536198,11099046,11076863,11062261,10818110,10722846,10512627,10491193,10329441,9730828,9045618,8831575,8294464,7991565,1999336,1516130,12832475,14665628,16189514 5868 NM_004162,AC097635,CH471055,AF464088,AF498936,BC001267,BC018288,CR536492,CR597533,M28215 NP_004153,EAW64301,EAW64302,EAW64303,AAO15677,AAM21084,AAH01267,AAH18288,CAG38731,AAA60245,P20339,Q6FI44,CAL37675,CAL37879,ABM82716,ABM85898 Hs.475663 GDB:118860 RAB5 protein-coding 1315136 RAB5B RAB5B, member RAS oncogene family 12477932,11733506,11703925,11230166,11076863,10403367,9918381,8666383,7789520,12493736,10491193,1541686,11256614,17927960,17081065,16381901,15489336,15489334,12972505 5869 NM_002868,AC034102,CH471054,AF267863,AF498937,AK292597,BC032740,BC040143,BC050558,BC056422,BC065298,BX537408,BX647808,CR536482,CR541690,CR594499,CR597002,CR614791,CR621175,X54871 NP_002859,EAW96862,EAW96863,EAW96864,AAG44732,AAM21085,BAF85286,AAH32740,AAH40143,AAH50558,AAH56422,AAH65298,CAG38721,CAG46491,CAA38653,P61020,Q0JSV8,Q6FI54,Q9H2I5,CAL38406,CAD97650 Hs.567328 GDB:132338 protein-coding 1316083 RAB5C RAB5C, member RAS oncogene family 1580863 8646882,17081065,12493736,12477932,10768959,10329441,9852039,7951316,17353931,12972505 5878 CR600279,CR600565,CR601486,CR603551,CR607771,CR607787,CR608029,CR611639,CR612169,CR612483,CR613867,CR615479,CR617757,CR617879,CR620573,CR620653,CR621567,CR622103,CR623581,CR624854,CR625174,CR625641,CR626803,U11293,U18420,NM_004583,NM_201434,AC003104,AC099811,AC105024,CH471152,AF141304,AF498938,AL553867,BC106039,BC114439,BM424166,BM550607,BT019484,CR541901,CR591636,CR591906,CR595237,CR595680,CR599091 AAA74081,AAB08927,P51148,Q6FH55,NP_004574,NP_958842,EAW60805,EAW60806,EAW60807,EAW60808,AAF66594,AAM21086,AAI06040,AAI14440,AAV38291,CAG46699 Hs.701970 GDB:1220120 MGC117217|MGC138857|RAB5CL|RABL protein-coding 1320484 RAB6A RAB6A, member RAS oncogene family 1580863 2501306,12391317,15229288,18044744,17716866,17699596,17681140,17573808,16683916,16536738,16473624,16395330,16381901,16332443,16189514,15878329,15747776,15489336,15489334,15483056,15128430,14702039,12738866,12477932,12447383,12401177,12051743,11929610,11230166,11076863,11071909,11054569,10996854,10329441,10209123,10202141,9438855,9373149,9110174,8889548,8619474,8356066,8294464,8175798,8125298,2112230,1999336 5870 BC003617,BC034996,BC044241,BC068486,BC096818,BI545554,BI552973,BQ422263,BT019698,BU685989,CB067721,CB989138,CR541984,CR625610,DQ437503,M28212,NM_002869,AP002770,AP002993,CH471076,AF052130,AF091030,AF091031,AF119836,AF130122,AF130986,AF198616,AF498939,AF498941,AK057157,NM_198896,AK223551,AK289748,AK290132 BAF82821,AAH03617,AAH68486,AAH96818,AAV38504,CAG46781,ABD93919,AAA60246,P20340,Q1W5D8,Q53ET8,Q6FGX3,Q9UL29,Q9UL30,CAL37813,CAL38456,CAL38606,CAL38679,NP_942599,NP_002860,EAW74907,EAW74908,EAW74909,EAW74910,EAW74911,EAW74912,AAF00043,AAF00044,AAF23593,AAD27707,AAD25535,AAF73841,AAM21087,AAM21089,BAB71371,BAD97271,BAF82437 Hs.12152,Hs.503222,Hs.535586 GDB:118861 RAB6|RAB6A'|RAB6B protein-coding 1320580 RAB6B RAB6B, member RAS oncogene family 1580863 10893188,18044744,17707369,16790928,16344560,15489334,14702039,12477932,9030196,16189514,11929610 51560 NM_016577,AC080128,CH471052,AB073348,AF166492,AF498940,AK055102,BC002510,BC036864,BC063556,BC078662,BT007263,DA221889,U66623 NP_057661,EAW79158,EAW79159,AAF61637,AAM21088,AAH02510,AAH78662,AAP35927,AAC51198,Q6AZ91,Q92929,Q9NRW1 Hs.12152 GDB:11500401 protein-coding 1354322 RAB6C RAB6C, member RAS oncogene family 1580863 10455022,11054569,17426708,16267028,15489334,14702039,12477932,12007787,11230166,9847074 84084 NM_032144,AC079776,AF124200,CH471058,CH471103,AF309646,AK055504,AL136727,BC120998,BC120999,CR533469 NP_115520,AAY15045,AAF28422,EAX11700,EAW95362,AAN39685,CAB66661,AAI21000,CAG38500,Q9H0N0 Hs.591552 GDB:11507585 WTH3 protein-coding 1315561 RAB6IP1 RAB6 interacting protein 1 15489334,14702039,12477932,10470851,7782346 23258 NM_015213,AC055845,AC079296,AP006259,CH471064,AB029014,AK025499,AK026007,AK091148,AK125444,AL117448,BC005100,BC009354,BC018797,BC071596,BX401101 NP_056028,EAW68600,EAW68601,BAA83043,BAB15155,CAB55932,AAH09354,AAH71596,Q6IQ26 Hs.501857 GDB:9955429 FLJ22354|FLJ33829|FLJ43455|KIAA1091 protein-coding 1351789 RAB7A RAB7A, member RAS oncogene family Members of the RAB family of RAS-related GTP-binding proteins are important regulators of vesicular transport and are located in specific intracellular compartments. RAB7 has been localized to late endosomes and shown to be important in the late endocytic pathway. In addition, it has been shown to have a fundamental role in the cellular vacuolation induced by the cytotoxin VacA of Helicobacter pylori.[supplied by OMIM] 1580863 8954989,17353931,2115402,15078902,18272684,18039930,17625594,17081065,16965270,16631113,16396496,16344560,16282324,16176980,15996637,15933719,15681833,15592455,15489334,15455439,15340014,15186776,15099588,14702039,14668488,14644159,12972561,12944476,12850305,12643545,12576024,12545426,12477932,12071695,12054610,12034881,11675392,11591706,11179213,11141079,10679007,10491170,10329441,9918381,9792283,9585432,9563513,9428630,9373149,9126495,8910576,8702787,8125298,16189514 7879 AK225177,AK225691,AK290721,AU122058,BC008721,BC013728,BX537775,CA748697,CR619040,CR619444,U44104,NM_004637,AC023598,AC079945,AC117508,AC139617,AF050175,CH471052,CQ766813,AF498942,AK000826,AK026136,AK094449 BAF83410,AAH08721,AAH13728,CAD97836,AAA86640,P51149,NP_004628,AAD02565,EAW79302,EAW79304,CAF33077,AAM21090,BAA91390 Hs.15738 GDB:604021,GDB:9955795 FLJ20819|PRO2706|RAB7 rab7, member ras oncogene family protein-coding 1346465 RAB7B RAB7B, member RAS oncogene family 1580863 12477932,15489334,15144907,14702039 338382 NM_177403,CH471067,AK122657,AK127140,AY094596,BC007382,BC017092 NP_796377,EAW91589,EAW91590,EAW91591,AAM22519,AAH07382,AAH17092,Q96AH8,Q96IM5 Hs.534612 MGC16212|MGC9726|RAB7 protein-coding 736472 RAB7L1 RAB7, member RAS oncogene family-like 1 1580863 9284931,15231747,15489334,14720509,12477932,9373149,8125298 8934 NM_003929,AC119673,CH471067,AK223514,BC002585,BT019540,BX647960,CR542010,D84488 NP_003920,EAW91580,EAW91581,BAD97234,AAH02585,AAV38347,CAG46807,BAA22160,O14966,Q53EX5,Q6FGU7,ABM82843,ABM87837,ABW03455 Hs.115325 GDB:6053634 DKFZp686P1051|RAB7L protein-coding 1354512 RAB8A RAB8A, member RAS oncogene family The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. 17646400,17597763,17507647,17332756,17081983,17050734,15489334,12639940,12578829,12477932,12221131,11773082,11137014,10512627,9918381,9677305,9226381,8643544,8408203,8375503,8294494,2564840,1886711,123217,16189514,12590134,17353931 4218 NM_005370,AC008894,CH471106,S53268,AB209767,AF498943,AK025165,BC002977,BT007184,BU940750,CR536583,CR542274,CR590930,CR594350,CR597154,CR612819,CR615093,CR625894,X56741 NP_005361,EAW84526,EAW84527,AAB19681,BAD93004,AAM21091,AAH02977,AAP35848,CAG38820,CAG47070,CAA40065,P61006,Q59EP4,Q6FHV5,ABM83449,ABM86661 Hs.642874,Hs.644938 MEL|RAB8 protein-coding 1350755 RAB8B RAB8B, member RAS oncogene family 737633,1580863 9030196,15489334,14702039,12639940,12477932,12221131,10889189,8799816 737633 51762 NM_016530,AC016207,CH471082,AB038995,AK001111,AK095444,AL133607,AL833365,BC020654,BG721755,U66624 NP_057614,EAW77641,EAW77642,BAA92249,CAI46143,AAH20654,AAC51199,Q5JPC4,Q92930 Hs.389733 FLJ38125 protein-coding 1350613 RAB9A RAB9A, member RAS oncogene family 1580863 9126495,15078902,17081983,16644737,16769818,15489334,15263003,12576506,12477932,12032303,11827983,11707390,11485202,10512627,9792283,9230071,8389620,7744738,16189514,15456905,11359012 9367 BC017265,CR450362,CR612058,U44103,NM_004251,AC003037,AC079383,CH471074,AF498944,AK290505 AAH17265,CAG29358,AAC51200,P51151,ABM83750,ABM87069,NP_004242,EAW98826,EAW98827,EAW98828,AAM21092,BAF83194 Hs.495704 GDB:9956092 RAB9 protein-coding 1353231 RAB9B RAB9B, member RAS oncogene family 1580863 15772651,15489334,12477932,11043518 51209 NM_016370,AL139228,CH471190,AB036693,BC018033,BC041336,BC070069,BC093756,BC093758 Q9NP90,NP_057454,CAB76967,EAW54689,BAA89542,AAH93756,AAH93758 Hs.522736,Hs.679046 GDB:11504547 RAB9L protein-coding 1343252 RAB9P1 RAB9, member RAS oncogene family, pseudogene 1 9126495 9366 NR_000039,AC091987,U44105 Hs.158296 GDB:9956086 pseudo 736141 RABAC1 Rab acceptor 1 (prenylated) 1580863 16169070,16930546,16917502,16189514,15489334,14574414,12477932,11520070,11335720,11096102,10751420,10707984,10329441,9341137,15914857,11739697,16481131 10567 NM_006423,AC010616,CH471126,AF112202,AF112996,AJ133534,BC008950,BT019964,CR457214,CR542116,CR591641,CR612417 NP_006414,EAW57086,EAW57087,EAW57088,AAF17190,AAP97229,CAB43107,AAH08950,AAV38767,CAG33495,CAG46913,Q9UI14 Hs.11417 GDB:9957667 PRA1|PRAF1|YIP3 protein-coding 1346664 RABEP1 rabaptin, RAB GTPase binding effector protein 1 1580863 12505986,15143060,17353931,8521472,16344560,15324660,12477932,11788822,11718716,11387476,11129044,10747088,10698684,10608812,9742146,9524117,9045618 9135 NM_004703,NM_001083585,AC004148,AC015727,AC087500,CH471108,AA873800,AF098638,AL050211,AL120839,AL157499,BC018742,BC032435,BC041700,BC065242,BI666786,BX103338,CR624657,DB169027,X77723,X91141 NP_004694,NP_001077054,EAW90343,EAW90344,EAW90345,AAC70781,AAH32435,AAH41700,CAA62580,Q05BX6,Q15276 Hs.584784,Hs.592121 RAB5EP|RABPT5 protein-coding 1344154 RABEP2 rabaptin, RAB GTPase binding effector protein 2 737633,1580863 17254320,17205062,15489334,14702039,12477932,9524116 737633 79874 NM_024816,AC109460,CH471267,AK026935,AK092299,BC027584,BC046118,BC058900 NP_079092,EAW52007,BAB15594,AAH27584,AAH58900,Q49AT6,Q9H5N1 Hs.555978 FLJ23282|FRA protein-coding 1604052 RABEPK Rab9 effector protein with kelch motifs 9230071,16769818,15489334,15164053,14530284,12477932,16189514,14615539 10244 NM_005833,AL354710,AL445930,CH471090,AK290768,AL832249,BC000503,BC047023,BC053541,BC065725,CR456837,CR541851,CR590651,CR591445,CR600864,CR607227,CR608411,CR616433,CR616448,CR624302,Z97074 NP_005824,CAI13680,CAI13681,EAW87614,EAW87615,EAW87616,EAW87617,EAW87618,EAW87619,BAF83457,CAH10393,AAH00503,AAH47023,AAH53541,AAH65725,CAG33118,CAG46649,CAB09808,Q5T1S4,Q7Z6M1,ABM83178,ABM86379 Hs.19012 DKFZp686P1077|RAB9P40|bA65N13.1|p40 protein-coding 1312283 RABGAP1 RAB GTPase activating protein 1 737633,1580863 10202141,14702039,12477932,11071909,10893188 737633 23637 NM_012197,AC007066,AL358946,AL365338,CH471090,AA948302,AF088073,AF161357,AJ011679,AK022408,AK131449,AL050195,BC020609,BC054492,BG622097 NP_036329,CAH70298,EAW87554,EAW87555,EAW87556,EAW87557,AAF28917,CAB40267,BAB14031,BAD18594,CAB43313,AAH20609,AAH54492,Q9Y3P9 Hs.271341 DKFZp586D2123|GAPCENA|RP11-123N4.2|TBC1D11 protein-coding 1347519 RABGAP1L RAB GTPase activating protein 1-like 16923123,15367492,14702039,12477932,11329013,11238933,10585558,9455484 9910 NM_001035230,NM_014857,AL008735,AL021069,AL022171,AL022400,AL031278,AL031286,AL136377,AL161671,AL591108,CH471067,Z99127,AB007940,AB019489,AB019490,AB019491,AB019492,AB019493,AF279778,AK074409,AK095838,AL035303,AL049701,AL049702,AL157958,AY364260,BC012094,BC018630,BC041888,BC062541,BG193682,CR627374 NP_055672,NP_001030307,CAI20382,CAI20383,CAI20384,EAW90978,EAW90979,CAI18933,CAI18934,CAI18935,CAI18936,CAI18937,BAA32316,BAA77330,BAA77331,BAA77332,BAA77333,BAA77334,BAC04635,CAA22908,CAB41265,CAB41266,CAB76100,AAQ76819,AAH12094,AAH18630,AAH41888,Q9NSP8,Q9UEL5,Q9UQ19,Q9UQP5,Q9Y3L8,Q9Y6Y5,Q9Y6Y6,Q9Y6Y7,CAH10472,O75059,Q3ZTR8,Q5T847,Q5VTT7,Q6AI42,Q8IVV0,Q8N921,Q8WV78 Hs.585378 DKFZp686E1450|HHL|RP1-102G20.1|TBC1D18 protein-coding 1316404 RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1 RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM] 1302425,1580863 16189514,16499958,17353931,18160707,17450153,17341663,16344560,15489334,15339665,14702039,12853948,12505986,12477932,11452015,11098082,9373149,9323142,8125298,11788822,15324660 1302425 27342 NM_014504,AC027644,CH471140,AI061350,AJ250042,AK001702,AK056864,AK127790,AK223329,AK290678,AW196783,BC015330,BM310029,BT007107,CD366530,DA196847,DQ230533,DQ230534,DQ230535 NP_055319,AAQ93362,EAX07913,EAX07914,EAX07915,EAX07916,CAB57359,BAC87138,BAD97049,BAF83367,AAH15330,AAP35771,ABA64473,ABA64474,ABA64475,Q3HKR1,Q9UJ41 Hs.530053,Hs.705647 FLJ32302|RABEX5|rabex-5 protein-coding 1345525 RABGGTA Rab geranylgeranyltransferase, alpha subunit 1580863 2018975,8380507,16344560,15188402,12620235,12535645,12477932,12107412,12071695,9196026,8954794,8505342,7991565,15489334 5875 NM_004581,NG_007150,NM_182836,AL096870,CH471078,AK291347,AK292613,AL547259,AU125148,BC003093,CB995791,CD370056,CD672493,CR541797,CR602211,CR606499,CR607792,CR608269,CR608965,CR612475,CR616135,CR621196,CR621414,CR625243,CR626838,Y08200 NP_004572,NP_878256,EAW66041,EAW66042,EAW66043,EAW66044,EAW66045,EAW66046,BAF84036,BAF85302,AAH03093,CAG46596,CAA69382,Q6FHF7,Q92696 Hs.377992 GDB:3793223 protein-coding 736470 RABGGTB Rab geranylgeranyltransferase, beta subunit 1580863 12620389,8380507,17081983,15489334,14702039,12802062,12620235,12535645,12477932,12071695,11675392,11591706,11447212,11141079,10491170,9719562,9677305,8954794,8706741,8505342,8175798,7991565,1598901 5876 NM_004582,AL357314,CH471059,AB209023,AK128861,AK293057,BC020790,BC035873,CR456941,CR594245,U49245,X98001,Y08201 NP_004573,CAI22392,CAI22393,EAX06394,EAX06395,EAX06396,EAX06397,EAX06398,BAD92260,BAF85746,AAH20790,CAG33222,AAA91473,CAA66638,CAA69383,P53611,Q59GT6,Q6IB63 Hs.78948 GDB:3793224 GGTB protein-coding 1344362 RABIF RAB interacting factor The Sec4/Rab-related small GTP-binding proteins are involved in the regulation of intracellular vesicular transport. Mss4 stimulates GTP-GDP exchange in Sec4 and Rab and binds to a subset of genetically related Rab proteins.[supplied by OMIM] 1580863 7619808,9441742,16169070,15489334,12477932,12105226,10094488,9373149,9013620,8125298,7651540,12788069 5877 NM_002871,AC098934,CH471067,AK223538,BC018488,BC037392,BT007133,CR593497,S78873,U74324 NP_002862,EAW91443,BAD97258,AAH18488,AAH37392,AAP35797,AAB34955,AAB18264,P47224,Q53EV1 Hs.90875 GDB:683578 MSS4|RASGFR3|RASGRF3 protein-coding 1315545 RABL2A RAB, member of RAS oncogene family-like 2A This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Two alternatively spliced transcript variants have been identified, both encoding the same protein. 1580863 10444334,15815621,14702039,12477932,8889548 11159 NM_013412,NM_007082,AL078621,AF095350,AF095351,AK092971,AK289496,AL137649,BC062578,BC111008,BC126129,BU728800,CR456554,CR624145 NP_038198,NP_009013,CAB81644,CAB81645,AAD51377,AAD51378,BAF82185,AAI11009,AAI26130,CAG30440,A0AUY0,Q2TAB6,Q6IC14,Q9UBK7 Hs.446425 GDB:9865042 FLJ78724|MGC117180 protein-coding 1353591 RABL2B RAB, member of RAS oncogene family-like 2B The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined. 1580863 10444334,16189514,15489334,14702039,12477932,10591208 11158 NM_001003789,NM_007081,AC002055,AF095352,AI701071,AK094341,AK308268,AK313442,BC014879,BC020495,BC024281,BC040495,BC064551,BC075856,BG177165,BT020037,CR617149,CR621508 NP_001003789,NP_009012,AAD51379,AAH14879,AAH20495,AAH24281,AAV38840,Q5TZT8,Q8WUI7,Q9UNT1,CAK54585,CAK54884,ABM83286,ABM86493 Hs.584862 GDB:9865043 FLJ93981|FLJ98216 protein-coding 1315050 RABL3 RAB, member of RAS oncogene family-like 3 737633 12477932 737633 285282 NM_173825,AC117472,AC133474,CH471052,AK025772,AK293085,BC020832,BX647559,BX647593,BX647664,CR595408,CR619977 NP_776186,EAW79520,EAW79521,BAF85774,AAH20832,CAI46095,CAI46064,CAI46059,Q5HYI8 Hs.444360 GDB:11508936 MGC23920 protein-coding 1318628 RABL4 RAB, member of RAS oncogene family-like 4 This gene encodes a putative GTP-binding protein similar to RAY/RAB1C. The protein is ras-related, but the function is unknown. 1580863 15489334,15461802,12529303,12477932,10591208,16189514 11020 NM_006860,CH471095,Z80897,AB209424,AL022729,BC000566,BT006815,CR456558 NP_006851,EAW60114,EAW60115,EAW60116,EAW60117,CAB62968,BAD92661,CAA18787,AAH00566,AAP35461,CAG30444,Q59FN6,Q9BW83,CAK54589,CAK54888 Hs.415172 GDB:9956178 RAYL protein-coding 1313356 RABL5 RAB, member RAS oncogene family-like 5 737633 15489334,14702039,12477932 737633 64792 NM_022777,AC006329,CH471197,AK023287,AK024179,AK292254,AL157469,BC004522,BC009823,BC038668,BC050531,CR593886 NP_073614,EAW50216,EAW50217,EAW50218,EAW50219,EAW50220,BAB14846,BAF84943,CAH10693,AAH04522,AAH09823,AAH38668,Q49AG1,Q9H7X7 Hs.389104 DKFZp761N0823|FLJ13225|FLJ14117 protein-coding 1605432 RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. 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. 10954424,9312003,9572733,7744773,10648409,14737186,18440141,18261726,18249095,18172037,18165265,18160398,18160397,18156211,18093184,18088600,18086571,18070887,18064650,18056353,18045877,18006851,17982280,17982024,17941827,17916560,17904119,17868934,17848544,17766170,17702746,17702745,17693642,17686471,17663742,17637758,17627624,17622308,17604276,17597401,17568564,17565754,17562712,17562701,17521326,17517067,17513457,17478078,17428306,17409253,17356711,17347137,17301947,17300916,17275330,17244648,17234718,17233629,17229424,17122362,17121847,17115053,17088251,17081065,17074883,17064663,17027967,17018616,17018610,17012749,16982419,16914518,16861229,16825658,16809619,16775008,16772332,16762923,16751412,16716260,16707128,16681996,16628223,16551621,16507994,16492808,16439689,16410245,16397238,16395716,16390331,16354686,12038964,12027902,12006387,11998687,11973651,11955434,11950936,11950930,11948427,11896062,11893732,11884513,11839748,11822867,11756552,11685227,11595749,11590143,11513579,11513578,11478794,11457725,11438723,11422783,11416133,11346801,11284700,11278572,11260256,11258927,11163217,11135665,11134022,11130076,11130063,11101877,11090627,11084340,11062023,11035813,11030651,16339173,16339170,16280046,16257181,16246732,16243562,16195373,16195235,16027728,15976327,15905615,15901767,15864742,15860737,15850775,15817154,15777850,15647276,15614286,15579468,15569826,15535843,15494521,15489334,15470041,15377999,15351707,15308673,15304341,15303276,15298851,15265891,15231571,15226424,15194790,15194684,15187145,15170282,15166228,15123662,15123640,15121898,15048733,15023524,15009099,14976202,14960575,14764880,14736526,14729058,14702039,14701795,14641180,14625275,14623895,14576080,14573547,14557270,14514689,14506233,12972426,12960245,12919680,12915445,12912997,12883706,12879077,12874273,15247305,12861025,12853948,12810717,12761036,12719789,12716910,12714565,12690205,12676940,12657628,12650940,12612085,12606638,12584113,12574162,12547822,12533515,12524240,12511425,12499846,12477932,12453877,12393632,12393431,12377770,12376551,12239215,12181570,12169092,12134158,12123608,12117911,12115629,12086876,12054568,11027608,11021801,10958683,10871853,10821761,10816584,10779525,10766742,10747961,10673424,10617634,10597294,10559471,10523675,10508610,10486263,10346909,10220378,10051605,9857026,9843499,9808620,9799233,9786927,9624165,9582072,9535855,9463375,9427749,9417078,9305638,9255350,9190911,9148763,9083043,9033596,9030878,8990187,8798539,8769096,8756646,8702968,8670882,8670801,8643625,8631991,8496137,8491184,8107774,8036496,8034624,7957046,7938008,7744004,7738010,7673236,7629060,7545969,7493928,2674130,2108320,1903399,1643658,16526095,17077296,16687395,8994833,16436505,14597672,10394361,16189514,12819203,15147912,17353931,15975516,14530271,12944407,15864311,15735674,15642257,15649357,15723800,15652748,12538863,2550440 5879 AAB22206 NM_198829,NM_018890,NM_006908,AC009412,AJ132695,AL833528,CH236963,CH878731,CS026591,CS026817,DQ165078,AB209410,AF136373,AF498964,AJ132694,AK054993,AK122742,AK291806,AK291815,AY279384,BC004247,BC050687,BC107748,BG437715,BQ689587,BT007121,CR591797,CR612844,CR624356,CR624866,D25274,M29870,M31467,CR621312 NP_942126,NP_061485,NP_008839,AAS07511,AAS07512,CAA10733,CAB53579,EAL23718,EAL23719,EAL23720,EAW55039,EAW55040,EAW55041,EAW55042,EAW55043,EAW55044,CAI61762,CAI61874,AAZ80485,BAD92647,AAD30547,AAM21111,CAA10732,BAF84495,BAF84504,AAQ16632,AAH04247,AAH50687,AAI07749,AAP35785,AAA36537,AAA36544,AAB22206,P63000,Q59FQ0 Hs.413812 GDB:134410 MGC111543|MIG5|TC-25|p21-Rac1 1643402 BMD2_H protein-coding 1346791 RAC1P1 ras-related C3 botulinum toxin substrate 1 pseudogene 1 387612 NG_005321,AC022884 HsT2789 pseudo 1342726 RAC1P2 ras-related C3 botulinum toxin substrate 1 pseudogene 2 15474301 442775 NG_005326,AC108931 Psi2Rac1 pseudo 1352022 RAC1P3 ras-related C3 botulinum toxin substrate 1 pseudogene 3 15474301 492295 NG_004753,AL354696 Psi3Rac1 pseudo 1348059 RAC1P4 ras-related C3 botulinum toxin substrate 1 pseudogene 4 15474301 286472 NG_004751,AL022576 Psi4Rac1|RAC4 pseudo 1342592 RAC1P5 ras-related C3 botulinum toxin substrate 1 pseudogene 5 This locus encodes one of the pseudogenes of the functional ras-related C3 botulinum toxin substrate 1 gene (RAC1, GeneID:5879) located on chr 7. It is intronless, shares overall 93% sequence identity with the RAC1 gene, and has enough differences in the coding region so as not to be able to code for a functional protein. There is no evidence of transcription at this pseudogene locus on chr 4. 15474301 402183 NG_005324,AC104663,AF542527 Psi1Rac1 pseudo 1316839 RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. 1599398,1580863 12716910,12676940,12516569,12477932,12176041,12027902,11513578,11457725,11445862,11346801,11042152,11027608,10961859,10758162,10655614,10591208,10559471,9748241,9642115,9624165,9614111,9490022,9299243,8504089,1903399,1902092,1316893,16526095,16436505,14737186,16189514,2674130,11090627,18056264,17982024,17975262,17269730,17227822,16772332,16582540,15812594,15761153,15489334,15461802,15023524,14702039,12960248,12912997 1599398 5880 AAB22207 NM_002872,NG_007288,CH471095,Z82188,AF077208,AF498965,AK096924,BC001485,BC018735,BC051899,BT006919,CR456555,CR598121,CR600269,CR608461,CR614981,CR615247,CR615260,CR616302,CR621380,CR623595,M29871,CR612727 NP_002863,EAW60149,EAW60150,EAW60151,EAW60152,EAW60153,CAB45265,AAD27003,AAM21112,AAH01485,AAP35565,CAG30441,AAA36538,AAB22207,P15153,CAK54586,CAK54885,ABM84214,ABM87619,ABW03912 Hs.517601 GDB:134411 EN-7|Gx|HSPC022 protein-coding 1344542 RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. 11956649,17968310,17244648,16982419,16280046,16027728,15993075,15489334,15184363,12477932,11756406,11747336,10894930,10777539,10618392,9299243,9252344,8889548,2674130,12145209,16189514 5881 NM_005052,AC137723,AF008591,AF498966,BC009605,BC015197,BT019443,BU731383 NP_005043,AAC51667,AAM21113,AAH09605,AAH15197,AAV38250,P60763,ABM84049,ABM87399 Hs.45002 GDB:5952599 protein-coding 1314228 RACGAP1 Rac GTPase activating protein 1 Rho GTPases control a variety of cellular processes. There are 3 subtypes of Rho GTPases in the Ras superfamily of small G proteins: RHO (see MIM 165370), RAC (see RAC1; MIM 602048), and CDC42 (MIM 116952). GTPase-activating proteins (GAPs) bind activated forms of Rho GTPases and stimulate GTP hydrolysis. Through this catalytic function, Rho GAPs negatively regulate Rho-mediated signals. GAPs may also serve as effector molecules and play a role in signaling downstream of Rho and other Ras-like GTPases.[supplied by OMIM] 1580863 11085985,11278976,16129829,12590651,17982282,17081983,16964243,16790497,16565220,16381901,16344560,16118207,15872091,15863513,15728185,15677464,15642749,15489336,15489334,15324660,15284113,15009096,14744859,14729465,14702039,10979956,12689593,12493759,12477932,12432077,11942621,11937491,11782313,11278894,11230166,11076863,10819331,10748082,10655059,9822598,9497316,9482736,9427749,9373149,9079650,8125298,16189514,17353931,15778465 29127 NM_013277,NM_001126103,NM_001126104,AC025154,CH471111,AB030251,AB040911,AK000733,AK022726,AK225901,AK315785,AL136794,BC024144,BC032754,CR533565,CR603322,CR615917,DA441098,DB076571 NP_037409,NP_001119575,NP_001119576,EAW58113,EAW58114,EAW58115,BAA90247,BAA96002,BAA91347,BAB14206,BAG38131,CAB66728,AAH24144,AAH32754,CAG38596,Q0JRY4,Q9H0H5,Q9H9L9,CAL38730,ABM85335,ABW03715 Hs.708122 GDB:9954801 HsCYK-4|ID-GAP|MgcRacGAP protein-coding 1605021 RACGAP1P Rac GTPase activating protein 1 pseudogene 12477932 83956 NG_005045,AC008127,AF334184,BC125190,BC125191 AAG50293,AAI25191,AAI25192,Q08AG1,Q9BZ74 Hs.650500 FKSG42 pseudo 1315145 RAD1 RAD1 homolog (S. pombe) This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. 1580863 9660799,10359610,9716408,9872989,12791985,17855402,17583730,17493829,17395641,16814252,16731526,16216273,15897895,15871698,15556996,15489334,15314187,15122316,14702039,14611806,14500360,12578958,12477932,12228248,11994305,11944979,11907025,11799063,11573955,11418864,11340080,10884395,10852904,10846170,10777662,9878245,9828139,9828137,9705507,8361362,16189514 5810 AF076841,AF084512,AF084513,AF090170,AJ004974,AJ004975,AK002112,BC006837,BC009804,BC035771,BC037857,BT006908,CR610090,AF074717,NM_002853,AB183821,AB183822,AC026801,CH471119,DQ451401,AF011905,AF030933,AF058392,AF058393,AF073524,NM_133377 AAC98093,AAC95523,AAC35549,AAC35550,AAC95603,CAA06248,CAA06249,AAH06837,AAH09804,AAH37857,AAP35554,O60671,Q1W161,ABM82070,ABM85250,NP_596868,NP_002844,BAD86789,BAD86790,EAW55904,EAW55906,EAW55907,EAW55908,ABD96829,AAC27243,AAC95427,AAC14138,AAC95466 Hs.531879 GDB:9865820 HRAD1|REC1 protein-coding 1319895 RAD17 RAD17 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Eight alternatively spliced transcript variants of this gene, which encode four distinct proteins, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. 1580863 10884395,15538388,9660800,14657349,17657792,16951182,16885023,16381901,16314342,15489336,15489334,15485898,15235112,14702039,14624239,14611806,14605214,14500819,12672690,12578958,12477932,12400013,11907025,11799063,11715513,11687627,11602352,11572977,11418864,11230166,11076863,10852904,10608806,10593953,10480350,10232579,10208430,9933569,9878245,9869296,9716408,1563350,16354571,16189514,8999859 5884 NM_133338,NM_133343,NM_133342,NM_133344,NM_002873,NM_133341,NM_133340,NM_133339,AC145132,AC145145,AC145146,AF106065,AJ131296,AY612854,CH471137,AF017748,AF085736,AF098533,AF098534,AF112263,AF126424,AJ001642,AJ004977,AK292487,AL122068,BC018110,BC032304,AF076838,BX537441,CR608057,CR625205,CR625793 NP_579921,NP_579916,NP_579920,NP_579922,NP_002864,NP_579919,NP_579918,NP_579917,AAD42176,CAB46364,AAT09763,EAW51279,EAW51280,EAW51281,EAW51282,EAW51283,EAW51284,EAW51285,EAW51286,EAW51287,EAW51288,EAW51289,AAD01620,AAC95520,AAC36334,AAC97950,AAC97951,AAD38878,AAD17334,CAA04894,CAA06251,BAF85176,CAB59244,AAH32304,CAD97683,O75943,Q0JU88,CAL37923,ABM82534,ABM85727 Hs.16184 GDB:9954412 CCYC|FLJ41520|HRAD17|R24L|RAD17SP|RAD24 protein-coding 1352798 RAD17P1 RAD17 homolog (S. pombe) pseudogene 1 10480350 9207 NG_002929,AC098592,AJ131309,CH236948 GDB:9955462 HRAD17P1 pseudo 1343366 RAD17P2 RAD17 homolog (S. pombe) pseudogene 2 10480350,9660800 9206 NG_002928,AJ131310,AL161421 GDB:9955461 HRAD17P2 pseudo 1315923 RAD18 RAD18 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. 1580863 10884424,18290323,17914568,17624554,17242200,17158148,17081983,16964243,16824193,16710452,16611994,16565220,16098139,15509568,15489334,15381075,15359278,15302935,14702039,12856420,12477932,12016221,10908344,9373149,8125298,17541157 56852 AC034186,AY961989,CH471055,AB035274,AF169796,AK023075,AK222771,AY004333,BC001302,CR598315,CR626625,NM_020165,AC008151 AAX44049,EAW63948,EAW63949,BAA99284,AAF80856,BAB14392,BAD96491,AAF86618,AAH01302,Q53H10,Q9NS91,ABM82123,ABM85306,NP_064550 Hs.375684 RNF73 protein-coding 1317642 RAD21 RAD21 homolog (S. pombe) The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. 1580863 12672959,8812457,16416296,15837422,15767545,15737063,15489334,14702039,14603436,12477932,12417729,12200439,12198550,12034751,11875078,11793857,11590136,11509732,11483345,11243849,11076961,11073952,10931856,10623634,10207075,7584044,12930902 5885 AC087350,AY675320,CH471060,AK097915,AK098521,AK125620,AK289505,BC001229,BC050381,D38551,X98294,NM_006265 NP_006256,AAT70725,EAW91963,EAW91964,EAW91965,BAF82194,AAH50381,BAA07554,CAA66940,O60216 Hs.81848 GDB:1313739 FLJ25655|FLJ40596|HR21|HRAD21|KIAA0078|MCD1|NXP1|SCC1|hHR21 protein-coding 1348792 RAD21L1 RAD21-like 1 (S. pombe) 170598 AL031665,AL136531 CAC10381,CAI21762,CAH72384,Q5QPN2,Q5QPN3,Q5W0X4,Q5W0X5,Q9BYW7,Q9H4I0 GDB:11507587 dJ545L17.2 protein-coding 1320493 RAD23A RAD23 homolog A (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair (NER). This protein was shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, as well as with ubiquitin protein ligase E6AP, and thus suggests that this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. 1580863 16189514,8168482,8808275,17408689,17098253,16924240,16713569,16430867,16105547,15489334,15321727,15057824,14645509,14557549,12970176,12477932,12200120,12079361,11827521,11788722,11571271,11426943,11259200,11196199,11087358,10915768,10854423,10488153,10373495,9846873,9636371,9490418,9371639,9164480,8692695,8037842,7851894,16120388 5886 CR602320,CR602919,CR611081,CR614456,CR615357,CR622590,CR626267,D21235,M77024,NM_005053,AC092069,AD000092,AF549209,CH471106,AB209713,AK289908,BC014026,BC088364,BI832600,CR591185,CR594483,CR594893,CR596019,CR597251,CR597375 BAA04767,P54725,Q59EU8,Q5M7Z1,NP_005044,AAB51177,AAN39383,EAW84333,EAW84334,BAD92950,BAF82597,AAH14026,AAH88364 Hs.643267 GDB:371334 HHR23A|MGC111083 protein-coding 1351559 RAD23B RAD23 homolog B (S. cerevisiae) The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. 1580863 15358861,8168482,10583946,10214908,17932354,17728339,17081983,16713569,16712842,16537713,16492920,16399771,16344560,16253613,15885096,15866714,15849729,15550378,15489334,15164053,15064313,14645509,14585839,12832454,12815074,12505994,12477932,12215374,11827521,11562482,11279143,11259578,10915768,10854423,10488153,9734359,9373149,8692695,8125298,7851894,16189514 5887 NM_002874,AL137852,AY165178,CH471105,AI285544,AK125226,AK223479,AL540969,AU125295,AW402384,AY313777,BC015805,BC020973,BE894394,BG678535,BQ230600,BQ277025,BQ774932,CA866470,CR592064,CR606267,CR609543,CR622837,D21090 NP_002865,CAD13275,CAH70394,CAH70395,CAH70396,AAN47194,EAW59016,EAW59017,BAD97199,AAP81008,AAH20973,BAA04652,P54727,Q53F10,Q5W0S4,Q5W0S5,Q7Z5K8,ABM92180,ABM84652 Hs.521640 GDB:371335 HHR23B|HR23B|P58 protein-coding 1345277 RAD23BLP RAD23 homolog B (S. cerevisiae)-like pseudogene 54034 GDB:10796412 733899 RAD50 RAD50 homolog (S. cerevisiae) The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. 1578504,1302871,68816 9705271,15279769,12152085,9590181,18219098,12607003,12477932,12384589,12124628,12007281,11877377,11809878,11790298,11741547,11533665,11438675,11238951,11096100,10888888,10839544,10802669,10783165,10426999,10415333,10346816,9651580,9315668,14519663,12679336,11504724,17353931,10959836,15758953,17932350,17898048,17715134,17700070,17694070,17693401,17567994,17534377,17526493,17524422,17456004,17426050,17349953,17169801,17081983,16905549,16788144,16474176,16385572,16254336,16163361,16087684,16051665,15937485,15790808,15723659,15653682,15635413,15489334,15456891,15302935,15234984,15180989,15100233,15064416,14698290,14684699,14550546,12805565,12660252,12607005,8756642 1578504,1302871,68816 10111 NM_005732,NM_133482,AC004041,AC004042,AC116366,CH471062,AF057299,AF057300,AK290597,BC062603,BC073850,BC108282,BC140005,DQ655928,U63139 NP_005723,NP_597816,EAW62328,EAW62329,EAW62330,AAD50325,AAD50326,BAF83286,AAH62603,AAH73850,AAI08283,AAI40006,AAB07119,Q32P42,Q92878 Hs.655835 GDB:5885869 RAD50-2|hRad50 protein-coding 1316727 RAD51 RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. Transcript variants utilizing alternative polyA signals exist. 1580863,2292636,2292635,2292634,2292638,2292632,2292637 10493508,10446958,10390347,10212258,10082566,9891849,9880493,9774970,9607320,9461559,9396801,9380510,9321665,9192668,9126738,9121429,9008167,8921390,8816780,8812453,8703992,8675009,8617246,8610150,8479919,8188269,17090598,16983346,16511829,14755242,14636569,17353931,15065660,14580352,12915460,10959836,12815053,12408834,11313963,9811893,9560268,9523196,7988572,12442171,17515903,8929543,8358431,12427746,11309417,9826763,10438626,11080452,12606939,18429825,18256600,18203022,18033323,17999359,17947332,17942895,17889711,17761709,17709342,17685459,17672918,17666788,17639080,17591918,17557904,17549502,17544928,17515904,17513613,17483448,17483304,17302439,17301259,17180310,17118968,17078101,17063276,17007294,17001309,16979659,16902145,16890287,16843501,16837909,16723430,16644292,16638864,16629903,16624636,16624550,16596227,16516153,16477874,16475125,16432240,16427610,16398215,16395335,16367760,16261408,16215984,16186822,16169070,16018971,16000324,15965906,15958648,15944450,15766559,15750625,15734952,15713648,15671039,15665856,15611070,15489334,15466868,15330855,15313891,15226506,15165851,15138485,15123651,15102670,15095978,15064730,15036125,14724582,14599770,14559999,12917330,12883740,12826751,12750285,12750242,12673366,12650908,12619154,12477932,12359753,12242698,12242278,12239151,12226092,12205100,12077133,12036913,12023982,11935313,11867550,11842113,11839741,11839740,11839739,11809887,11782381,11691922,11684015,11580245,11535547,11477095,11337467,11278509,11256631,11248061,11239456,11154282,11005857,11002423,10998058,10851248,10851081,10807537,10619018,10562567,9405383,11498787,14530271,15800615,11799066 2292636,2292635,2292634,2292638,2292632,2292637 5888 NM_002875,AC012476,AC022405,AF165088,AF203691,AF233740,AY196785,CH471125,AK131299,AK291969,AU100170,AY425955,NM_133487,BC001459,BT019705,CR536559,CR594665,CR606487,CR619182,CR622784,CR626167,D13804,D14134,EU362635 NP_597994,NP_002866,AAD49705,AAF61901,AAF69145,AAN87149,EAW92431,EAW92432,EAW92433,EAW92434,EAW92435,BAD18467,BAF84658,AAR07948,AAH01459,AAV38511,CAG38796,BAA02962,BAA03189,ABY59731,Q06609,Q5U0A5,Q6TAR4,Q6ZNA8,Q9NZG9 Hs.631709 GDB:138758 BRCC5|HRAD51|HsRad51|HsT16930|RAD51A|RECA protein-coding 1353541 RAD51AP1 RAD51 associated protein 1 1580863 9396801,18316552,17996711,17996710,15489334,14966907,14702039,12477932 10635 NM_006479,AC005832,CH471116,AF006259,AK096930,AK290428,AK291948,AL832243,BC005973,BC006992,BC016330,CR625391 NP_006470,EAW88843,EAW88844,AAC39554,BAC04902,BAF83117,BAF84637,AAH06992,AAH16330,Q96B01 Hs.709525 PIR51 protein-coding 1350974 RAD51C RAD51 homolog C (S. cerevisiae) This gene is a member of the RAD51 family of related genes, which encode strand-transfer proteins thought to be involved in recombinational repair of damaged DNA and in meiotic recombination. This gene product interacts with two other DNA repair proteins, encoded by RAD51B and XRCC3, but not with itself. The protein copurifies with XRCC3 protein in a complex, reflecting their endogenous association and suggesting a cooperative role during recombinational repair. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing has been observed for this gene and two variants encoding different isoforms have been identified. 1580863 9469824,17114795,16395335,16215984,15489334,15292210,15170666,14716019,14704354,12975363,12966089,12477932,12427746,12118380,12036913,11842113,11842112,11751636,11751635,11744692,11459987,11410366,11331762,11034073,11034067,10888877,10749867,16189514,15115758,15065660 5889 NM_058216,NM_002876,AC011195,AC025521,AY623112,CH471109,AF029669,AF029670,AK290487,BC000667,BC073161,BC093930,BC101485,BC107753,BT007339,CR623930 NP_478123,NP_002867,AAT38108,EAW94430,EAW94431,EAW94432,EAW94433,EAW94434,AAC39604,AAC39605,BAF83176,AAH00667,AAH93930,AAI01486,AAI07754,AAP36003,O43502,O43503,Q9BW39 Hs.412587 GDB:9835131 MGC104277|RAD51L2 protein-coding 1344706 RAD51L1 RAD51-like 1 (S. cerevisiae) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 9512535,9441753,18270339,15701685,15489334,14704354,14595808,12975363,12649198,12508121,12441335,12427746,12118380,11978964,11842113,11842112,11751636,11751635,11744692,10938124,10565301,9892177,9878257,9788630,9207106,8889548,6261043,4595808,15115758,15065660,16189514,12477932 5890 NM_133509,NM_002877,NM_133510,AC004518,AL121595,AL121820,AL122013,AL133370,AL136294,AL157915,AL589168,CH471061,DQ160197,AL597484,AY138857,AY138858,AY138859,BC030219,BM671299,BX161515,BX248061,BX248766,CB051081,CR536560,U84138,U92074,Y15571 NP_598193,NP_002868,NP_598194,AAC32425,AAC32426,EAW80957,EAW80958,EAW80959,AAZ85144,AAN60542,AAN60543,AAN60544,AAH30219,CAD61950,CAD62357,CAD66573,CAG38797,AAC39723,AAB63358,CAA75680,O15315,Q6FHX8,ABM81852,ABM85007 Hs.172587 GDB:7013261 MGC34245|R51H2|RAD51B|REC2|hREC2 protein-coding 1315846 RAD51L3 RAD51-like 3 (S. cerevisiae) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Several alternatively spliced transcript variants of this gene have been described, but the biological validity of some of them has not been determined. 1580863 9570954,17353931,18058226,16717288,16395335,15489334,15170666,15109494,14759258,12975363,12477932,12118380,11842113,11842112,11834724,11751636,11751635,11744692,10871607,10749867,10092526,9512535,15115758,15065660,16189514 5892 NM_002878,NM_133629,AC022916,AY623116,CH471147,AB013341,AB016223,AB016224,AB016225,AB018360,AB018361,AB018362,AB018363,AB020412,AF034956,AL117459,BC002723,BC014422,BI916871,BX647297,Y15572 NP_002869,NP_598332,AAT38112,EAW80190,BAA25914,BAA31747,BAA31748,BAA31749,BAA33779,BAA33780,BAA33781,BAA33782,BAA34690,AAC39719,CAB55937,AAH02723,AAH14422,CAA75681,O75771,Q7Z790,ABM83244,ABM86446 Hs.631757 GDB:9837806 HsTRAD|R51H3|RAD51D|Trad protein-coding 1312725 RAD52 RAD52 homolog (S. cerevisiae) The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. 1580863 7774919,12379650,14734547,10438626,10921897,18449888,18313388,18270339,18203022,18086758,17040915,16956909,16638864,16367760,16018971,15958648,15766559,15670896,15571718,15205484,15205482,14690434,12883740,12750383,12477932,12376524,12372413,12370410,12191481,12139939,12036913,12023982,11809887,11691922,11571269,11456495,11081631,10744977,10673031,8921390,8812453,7797537,7526206,12659830,10212258 5893 NM_134424,AC004803,AF187983,AY527412,CH471116,AF125948,AF125949,AF125950,AK290047,AK292160,AL558884,AY540753,BC042136,BC104015,BC104016,BC104017,BC114507,BC114954,L33262,U12134,U27516 NP_602296,AAF05531,AAF05532,AAF05533,AAF05534,AAS00097,EAW88942,EAW88943,EAW88944,EAW88945,EAW88946,EAW88947,EAW88948,EAW88949,EAW88950,AAD24575,AAD24576,AAD24577,BAF82736,BAF84849,AAT44403,AAI04016,AAI04017,AAI04018,AAI14955,AAB05203,AAA85793,AAA87554,P43351,Q1RMF2,Q3MI84,Q5DR82,Q9UHE1,Q9UHE2,Q9UHE3,Q9UHE4,Q9Y5T7,Q9Y5T8,Q9Y5T9,AAI60123 Hs.709202 GDB:437222 protein-coding 1604371 RAD54B RAD54 homolog B (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. 10362364,16428451,17585536,16945962,16189514,15489334,15164066,12477932,11884632,11782437,10851248,17353931 25788 NM_012415,AC023632,AF487652,AP003534,CH471060,AF007866,AF086020,AF112481,AK290437,AL133578,BC001965,BC020668,BC033710,CR602319 NP_036547,AAL96666,EAW91713,AAD09313,AAD34331,BAF83126,CAB63724,AAH01965,AAH33710,O95073,Q9UF71,Q9Y620 Hs.30561,Hs.710768 FSBP protein-coding 1321600 RAD54L RAD54-like (S. cerevisiae) The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. 1580863,1599748 8805304,18270339,17660833,17545145,17417655,17054727,16862129,16710414,16540687,16520463,15975611,15489334,12614485,12477932,12205100,11459989,11289143,10640146,10449612,10362365,9774452,9321665,9192813,11799067,15782160,15806108 1599748 8438 NM_003579,AL121602,AY623117,CH471059,AA582917,AK292611,BC121059,BC121060,BM464345,CR591799,CR594300,X97795 NP_003570,AAT38113,EAX06929,EAX06930,BAF85300,AAI21060,AAI21061,CAA66379,Q92698 Hs.706783 GDB:9955154 HR54|RAD54A|hHR54|hRAD54 protein-coding 1604389 RAD54L2 RAD54-like 2 (S. cerevisiae) 16713569,14702039,12477932,10961928,9872452 23132 NM_015106,AC099050,AC113933,AB018352,AF161443,AK023824,AK025049,AK026053,AK122683,BC001474,BC024298 NP_055921,BAA34529,AAF29003,AAH01474,AAH24298,Q9P057,Q9Y4B4,ABM83116,ABM86312 Hs.105399 FLJ21396|FLJ22400|HSPC325|KIAA0809|SRISNF2L protein-coding 1321649 RAD9A RAD9 homolog A (S. pombe) This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein is found to possess 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Use of alternative polyA sites has been noted for this gene. 10713044,11971963,10846170,10359610,10884395,14500360,15897895,12628935,8943031,12791985,18316588,18215141,18156970,17511890,17493829,17395641,17081983,16814252,16731526,16479004,16365875,16216273,15871698,15773892,15558813,15556996,15489334,15326225,15314187,14988409,14966297,14611806,12941802,12766152,12734188,12709442,12578958,12477932,12228248,12049741,11994305,11944979,11907025,11799063,11573955,11551919,11395493,11340080,11278446,11077446,10852904,10777662,10620799,9872989,16189514 5883 NM_004584,AP003419,AY766122,CH471076,AA708970,BC014848,CR536508,CR624269,U53174 NP_004575,AAU89725,EAW74604,EAW74605,EAW74606,AAH14848,CAG38746,AAB39928,Q99638 Hs.655354 RAD9 protein-coding 1317874 RAD9B RAD9 homolog B (S. cerevisiae) 14500360,12791985,16365875,15489334,14702039,14611806,12477932 144715 AC002350,CH471054,AK058176,AK097665,AK124109,AY297459,BC037353,BC047645,BC068031,BI459646,NM_152442 NP_689655,EAW97920,EAW97921,EAW97922,EAW97923,EAW97924,EAW97925,EAW97926,BAB71704,BAC05138,BAC85774,AAQ62859,AAH47645,AAH68031,Q6WBX8 Hs.97794 FLJ40346|MGC75426 protein-coding 1604337 RADIL Rap GTPase interactor 17704304,16344560,15489334,15146197,14702039,12853948,12477932,11347906,11230166,17353931,16189514 55698 NM_018059,AC092610,CH236953,CH471144,AB058752,AK000997,AK001186,AL136731,DA241653,EF560723,BC004919,BC117317,BC126311,BG722917,BQ942667,CN365550 NP_060529,AAS07559,AAS07560,EAL23966,EAW87300,EAW87301,EAW87302,EAW87303,BAB47478,BAA91459,BAA91543,CAB66665,ABQ59033,Q0VFZ9,Q75LH2,Q96JH8,AAH04919,AAI17318,AAI26312 Hs.667336 FLJ10324|KIAA1849|MGC161589 protein-coding 1323051 RAE1 RAE1 RNA export 1 homolog (S. pombe) Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 9256445,15851029,10209021,12228227,9370289,17172455,15629720,15489334,14702039,12477932,11831386,11780052,11520456,11352911,11105759,11073978,10668806,9918853,9372936,8982867,15778465 8480 NM_003610,NM_001015885,AL109955,AL135939,CH471077,AI341915,AK055170,AK126024,AK292247,AY336091,AY349350,BC103754,BC106923,BC106924,CR590192,CR601825,CR602439,CR602444,CR605228,CR616830,CR619404,CR621755,CR622985,CR624730,CR625649,CR626728,U84720 NP_003601,NP_001015885,CAI21524,CAM28253,CAM28254,EAW75523,EAW75524,EAW75525,BAC86398,BAF84936,AAR24621,AAR04856,AAI03755,AAI06924,AAI06925,AAC28126,P78406,Q5J8M4,Q6ZU29 Hs.371698 GDB:9955244 FLJ30608|MGC117333|MGC126076|MGC126077|MIG14|MRNP41|Mnrp41|dJ481F12.3|dJ800J21.1 protein-coding 1322405 RAET1E retinoic acid early transcript 1E Members of the RAET1 family, such as RAET1E, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E and RAET1G (MIM 609244) differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM] 1580863 15240696,17470428,15026360,14574404,14508119,12975309,12732206,12477932,11827464 135250 AL355312,CH471051,AF359243,AY054974,AY069961,AY176317,AY252119,AY359075,BC101976,BC103694,EF489426,NM_139165 NP_631904,CAH72868,CAH72869,EAW47781,EAW47782,EAW47783,AAL76417,AAL11005,AAL58090,AAO22240,AAP15166,AAQ89434,AAI01977,AAI03695,ABR29881,Q3T1D4,Q3ZAR2,Q5VYB7,Q8TD07 Hs.511818 LETAL|MGC125308|MGC125309|RAET1E2|ULBP4|bA350J20.7 protein-coding 1345724 RAET1F retinoic acid early transcript 1F pseudogene 11827464 353089 NG_005420,AL583835 pseudo 1343371 RAET1G retinoic acid early transcript 1G Members of the RAET1 family, such as RAET1G, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E (MIM 609243) and RAET1G differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM] 15240696,12477932,11827464 353091 NM_001001788,AL583835,CH471051,AY172579,AY172580,BC096719,BC098152 NP_001001788,CAH71653,EAW47779,AAO22238,AAO22239,AAH96719,AAH98152,Q4V753,Q4V9S8,Q6H3X3 Hs.558792 protein-coding 1346870 RAET1J retinoic acid early transcript 1J pseudogene 11827464 353092 1344389 RAET1K retinoic acid early transcript 1K pseudogene 11827464 353093 AF425244 Hs.560537 pseudo 1318758 RAET1L retinoic acid early transcript 1L RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM] 16344560,11827464 154064 NM_130900,AL355497,CH471051,AY039682,BC131600,DA442768 NP_570970,CAH74125,EAW47773,EAW47774,AAK91503,AAI31601,Q5VY80,AAI48628,AAI53192 Hs.558659 protein-coding 1346440 RAET1M retinoic acid early transcript 1M pseudogene 11827464 353094 737596 RAF1 v-raf-1 murine leukemia viral oncogene homolog 1 Raf-1 is a MAP kinase kinase kinase (MAP3K) which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated Raf-1 can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2 which in turn phosphorylate to activate the serine/threonine specific protein kinases ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. [Contributed text] 1580696,1580668,1580863,1357969,1580106,1302749,1626216 9624170,10433554,11520933,8929532,8063729,9069260,18316782,18294816,18241070,18182859,18064632,18006502,17998336,17724343,17635919,17603483,17603482,17572489,17462920,17428866,17397260,17332776,17277048,17243098,17097642,17081983,17064357,17018604,16964381,16924233,16909118,16883571,16862215,16803888,16707572,16575407,16569214,16565089,16537381,16465392,16413928,16364920,16332724,16301319,16266749,16239230,16172610,16086581,16029117,15925322,15899852,15849194,15845549,15711535,15710605,15674327,15666389,15664191,15662129,15657590,15653554,15618521,15591313,15489334,15485920,15470083,15451031,15314064,15302887,15211515,15122343,15075335,15067053,15041731,14688025,14623285,12975377,12954639,12925535,12865432,12851216,12843393,12717443,12691824,12682854,12663662,12626521,12620389,12551923,12490852,12477932,12429936,12391160,12374792,12360521,12244094,12237340,12127063,12087097,12010819,11997508,11971957,11948406,11853019,11788587,11784866,11756411,11751906,11733498,11604401,11447113,11427728,11409918,11350735,11325826,11306563,11226259,11171046,11134016,11044439,11005817,10969079,10869570,10837247,10783161,10620507,10585452,10576742,10531364,10523642,10523633,10498616,10497893,10486249,10454553,10373531,10329666,10205168,10064593,9867809,9823899,9819434,9710607,9689060,9671314,9553107,9523700,9488663,9446616,9373149,9315742,9234708,9230211,9153224,9115221,9099670,9091312,9001246,8939988,8929531,8911690,8910675,8900182,8876196,8816460,8756332,8753867,8710867,8702721,8692945,8621729,8530446,8408024,8394352,8393135,8349631,8349614,8321321,8157000,8125298,8084603,8035810,7939632,7791872,7782277,7766599,7731720,7730360,7644510,7628630,7517401,7477354,3616625,3003687,2993863,2955285,2475255,1846778,1639773,1612588,1611909,9658081,8887682,12734410,11463741,16189514,15031288,14724584,14654780,9154803,12774123,14597674,15778465,9261098,17353931,8663231,12079506,16041367,15854902,15866172,15752761,15705808,14724641,14654844,15688026,7559537,15035987,11585923,8307946,7523381 1580696,1580668,1357969,1580106,1302749,1626216 5894 NM_002880,NG_007467,AC018500,AC026170,AY271661,CH471055,L00212,AK226028,BC018119,BQ221862,CR598160,CR608506,CR609564,CR616511,CR617502,X03484 NP_002871,AAP03432,EAW64134,EAW64135,AAA60247,AAH18119,CAA27204,P04049,Q15278 Hs.159130 GDB:119546 CRAF|NS5|Raf-1|c-Raf murine leukemia viral (v-raf-1) oncogene homolog 1 (3611-msv) protein-coding 1605530 RAF1P1 v-raf-1 murine leukemia viral oncogene homolog 1 pseudogene 1 348910 NG_003018,AC006499 GDB:119547 pseudo 1348923 RAF1P2 v-raf-1 murine leukemia viral oncogene homolog 1pseudogene 2 494550 1317876 RAG1 recombination activating gene 1 The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. 1580863,1599402,1599403 9630231,18463379,18089566,17982069,17890453,17307402,17075247,16857995,16738334,16465622,16276422,16061569,15843554,15295705,15249552,14726805,14624253,14500629,12861017,12853125,12757263,12477932,12355431,12244173,12200379,12145704,12115231,11313270,11214319,11133745,11121059,10891452,10701853,10606976,10490593,9885222,9394797,9379036,9036966,8844221,8810255,8777717,8052633,8016130,2598259,1612612,1283330 1599402,1599403 5896 NM_000448,NG_007528,AC139427,AY011903,AY130302,CH471064,BC037344,M29474 NP_000439,AAG38421,AAM77798,EAW68118,AAH37344,AAA60248,P15918,Q8IY72,Q9BYY2 Hs.73958,Hs.677010 GDB:120334 MGC43321|RNF74 protein-coding 1607017 RAG1AP1 recombination activating gene 1 activating protein 1 8630032,12477932 55974 NM_001122837,NM_001122839,AL691442,CH471121,CQ834326,CQ834328,AF126023,NM_018845,AF126024,AK289551,BC005943,BC009621,BC010869,BC012378,BC069245,BI711397,CR457148 NP_061333,NP_001116309,NP_001116311,CAI15321,CAI15322,CAI15323,CAI15324,EAW53127,EAW53128,EAW53129,EAW53130,CAH05378,CAH05379,AAF17232,AAF17233,BAF82240,AAH05943,AAH09621,CAG33429,Q5SR64,Q5SR67,Q6IAK6,Q96DC5,Q9BRV3,Q9UHQ2,Q9UHQ3 Hs.292154 RP11-540D14.5|SCP|slv protein-coding 1313706 RAG2 recombination activating gene 2 This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. 1580863,1599402,1599403 18463379,18089566,18033247,17982069,17476358,17075247,16344560,16111638,15949444,15843554,15295705,15249552,15025726,14726805,14624253,12897800,12861017,12757263,12477932,12355431,12200379,12145704,12115231,11214319,11134329,11123315,10892649,10891502,10601032,10330156,9885569,9760994,9630231,9036966,8810255,8521468,7963556,7774617,15489334,2360047,1832998,1428003,1283330,14530271 1599402,1599403 5897 NM_000536,NG_007573,AC139427,AY011962,CH471064,M94633,AF080577,AK292664,BC022397,BM457214,BM463455,DB142398 NP_000527,AAG38705,EAW68117,AAC35287,BAF85353,AAH22397,P55895,Q71UK1,Q9BYY1,ABM82938,ABM86127 Hs.159376 GDB:125186 RAG-2 protein-coding 1319529 RAGE renal tumor antigen 1580863 15489334,15327990,15052533,15019601,14704946,14702039,12777992,12606536,12477932,12477623,12206267,12190937,12070776,12029499,11811511,11586486,11457670,11375354,11334430,11282423,8781117,17587138,10421840,18279705,18179750,18079485,18058469,17987563,17924846,17661837,17549666,17405935,17345061,17224333,17218539,17172923,17035340,16969646,16954682,16788244,16440015,16305072,16159602,15986224,15942086,15915542,15900605,15896660,15803111,15798956,15790669,15748606,15704127,15666591,15599399,15547674 5891 AL352978,AL359402,CH471061,AB022694,AK094747,BC026069,BC043179,BC053536,CR592213,U46191,U46192,NM_014226,U46193,U46194 NP_055041,EAW81772,EAW81773,EAW81774,EAW81775,EAW81776,EAW81777,EAW81778,EAW81779,EAW81780,BAA81688,AAH26069,AAH43179,AAH53536,AAB38077,AAB38079,AAB38080,AAB38081,AAB38082,AAB38083,AAB38084,AAB38085,AAB38087,Q2XN14,Q49A77,Q9UQ07 Hs.104119 GDB:6275893 MOK|RAGE1 protein-coding 1318304 RAI1 retinoic acid induced 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. 1599405,1580863 17468296,17081983,16189514,15885892,15788730,15565467,15489334,12837267,12652298,12477932,11997338,11404004,11347906,10915763,10036180 1599405 10743 NG_007101,AC078903,AC122129,AJ271791,CH471196,AB058723,NM_030665,AJ230819,AJ271790,AL133649,AL834468,AL834486,AY172136,BC021209 NP_109590,CAC20424,EAW55692,EAW55693,EAW55694,EAW55695,EAW55696,BAB47449,CAC20423,CAB63768,CAD39127,CAD39144,AAO31738,AAH21209,Q7Z5J4 Hs.655395 GDB:9958236 DKFZP434A139|KIAA1820|MGC12824|SMCR|SMS protein-coding 1314269 RAI14 retinoic acid induced 14 17353931,16729964,16110356,15489334,15324660,14702039,12477932,11168586,11042181,10718198 26064 NM_015577,AC016602,AC025754,AC026801,CH471119,AB037755,AF155135,AK023135,AL050011,AY317139,AY354204,BC028681,BC052988 NP_056392,EAW55898,BAA92572,AAF44722,CAB43236,AAP84319,AAQ63889,AAH52988,Q9P0K7 Hs.431400 GDB:10029272 DKFZp564G013|KIAA1334|NORPEG|RAI13 protein-coding 1318892 RAI16 retinoic acid induced 16 15146197,14702039,12477932 64760 AC091171,CH471080,AF318332,AF495722,AK001987,AK025411,AK025454,AK055191,AK095924,AK126408,BC012865,BC013350,NM_022749,BC052237,BC112147,CN307828 NP_073586,EAW63720,EAW63721,EAW63722,EAW63723,AAL55839,AAQ06676,BAB15137,BAC86543,AAH12865,AAH13350,AAH52237,AAI12148,Q6ZTP3,Q86V87,Q8WYW6,Q9NUU8 Hs.491223 GDB:11507589 FLJ11125|FLJ21801|MGC138352 protein-coding 1353493 RAI2 retinoic acid induced 2 Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this intronless, retinoic acid-induced gene has not yet been determined; however, it has been suggested to play a role in development. Localization of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. 1580863 10049581,16713569,16189514,15489334,14702039,12477932,10394933 10742 NM_021785,AF136587,CH471074,AK056214,BC027937 NP_068557,AAD33688,EAW98933,EAW98934,EAW98935,AAH27937,Q5H970,Q9Y5P3 Hs.446680,Hs.708804 GDB:9865044 protein-coding 1343462 RAI4 retinoic acid induced 4 23453 GDB:9956575 1350109 RAI5 retinoic acid induced 5 22972 GDB:9957802 1354223 RALA v-ral simian leukemia viral oncogene homolog A (ras related) The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. 1580863 7673236,11520933,10848592,17875936,17709381,17606711,17540176,17524504,17237388,17174914,16964283,16344560,16177825,15950903,15920473,15817490,15809419,15592429,15489334,15231748,15130921,14597674,14525976,12874025,12856001,12853948,12839989,12690205,12624092,12509462,12477932,12034722,11744922,11406615,10889189,10329639,10051605,9688545,9488663,9422736,9207251,9188503,7623849,3292391,2662142,1903399,12842888,2550440 5898 NM_005402,AC004837,CH236951,CH471073,AF086082,AF493910,AK026850,AU132355,BC039858,CR600160,M29893,X15014 NP_005393,EAL23994,EAW94122,EAW94123,AAM12624,AAH39858,AAA36542,CAA33118,P11233 Hs.6906 GDB:120723 MGC48949|RAL protein-coding 1351800 RALB v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. 1580863 2120779,7673236,11520933,18227351,17875936,17709381,17606711,17174914,17018283,15817490,15489334,14525976,12874025,12856001,12477932,12034722,11744922,9422736,8972729,2662142,16189514 5899 NM_002881,AC012363,CH471103,AF493911,AK127675,BC018163,BQ893549,BT006953,CR601386,CR606313,M35416,X15015 NP_002872,AAY14800,EAW95240,EAW95241,EAW95242,AAM12625,BAC87080,AAH18163,AAP35599,AAA60250,CAA33119,P11234,Q53T32,Q6ZS74 Hs.469820 GDB:125273 protein-coding 737281 RALBP1 ralA binding protein 1 1580863 10924126,11437348,7673236,9753634,9422736,10848592,18086001,17982077,17706599,17081983,17047155,16890208,16611992,16227629,16189514,16188027,16087181,15707977,15489334,15451561,15310755,12775724,12632061,12632060,12527936,12477932,12433796,11882656,11732624,10910768,9395447,12621024,12887920,14525976,15592429,15247912 10928 NM_006788,AP005432,CH471113,AB209924,AY517554,BC013126,BF794440,BQ224100,BQ674032,BX352266,CR616762,L42542 NP_006779,EAX01601,EAX01602,EAX01603,EAX01604,EAX01605,BAD93161,AAT44527,AAH13126,AAB00103,Q15311,Q59E87,Q5GJ68,ABM82530,ABW03389 Hs.528993 GDB:9958605 RIP|RIP1|RLIP76 protein-coding 1351009 RALGDS ral guanine nucleotide dissociation stimulator 1580863 7972015,9365783,11520933,17992125,17709381,16368877,16007223,15208305,14749388,14702039,12477932,12464615,12105416,11889038,11840339,11788587,11455956,10718198,10653898,10545207,10498616,10085114,9400994,9302994,9155018,9038168,8631302,8094051,7809086,15031288,15856025,9516482,9564038 5900 NM_001042368,NM_006266,AF295775,AF295776,AF295777,AF295779,AF295780,AL162417,CH471090,AB037729,AF027169,AF295773,AK000242,AK024575,AK056462,AK074114,AK090450,AK127524,BC021581,BC033198,BC040737,BC059362,BM805052,BY797688,U14417 NP_001035827,NP_006257,AAG10221,AAG10222,AAG10223,AAG10224,AAG10225,CAI13414,CAI13415,CAI13416,CAI13417,EAW88037,EAW88038,EAW88039,EAW88040,EAW88041,EAW88042,BAA92546,AAQ13414,AAG02122,BAB84940,BAC03431,BAC87018,AAH21581,AAH33198,AAH59362,AAA52360,Q12967,Q5T7U6,Q5T7V4,Q6KH11,Q6PCE1,Q6ZSD5,Q8N4Y1,Q8NF31,Q8TEK9,Q8WU11,Q9HAX8,Q9HAX9,Q9HAY0,Q9P2N8 Hs.106185 GDB:5586946 FLJ20922|RGF|RalGEF protein-coding 1344179 RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 12477932,10889189,10747847,9205841,16189514 9649 AB002349,AF221098,BC019329,BC032372,BC033708,BX648170,NM_014636,AL160169,AL356862,AL357623,AL450263,CH471090 EAW87647,EAW87648,BAA20808,AAF65253,AAH19329,AAH32372,AAH33708,Q5JS12,Q5JS13,Q5VXM4,Q5VXM6,NP_055451,CAI40638,CAI40639,CAI40640,CAI40641,CAI40642,CAI40643,CAI40644,CAI39718,CAI39719,CAI39720,CAI39721,CAI39722,CAI39723,CAI41454,CAI41460,CAI41461,EAW87645,EAW87646 Hs.648175 KIAA0351|RALGEF2|RALGPS1A|RP13-225O21.1 protein-coding 1323046 RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 1580863 17353931,15324660,14702039,12485849,12477932,12102558,10747847,15778465 55103 NM_152663,NM_018037,AL162255,AL355520,AL449106,CH471067,AK001106,AK098470,BC047391 NP_689876,NP_060507,CAI21918,CAI21919,CAI21920,CAI21922,CAI21923,CAI21924,CAI21925,EAW91027,EAW91028,EAW91029,EAW91030,BAA91506,BAC05311,AAH47391,Q5T5Z3,Q86X27,Q8N7G9 Hs.709811 FLJ10244|FLJ25604|KIAA0351|dJ595C2.1 protein-coding 1316295 RALY RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) In infectious mononucleosis, anti-EBNA-1 antibodies are produced which cross-react with multiple normal human proteins. The cross-reactivity is due to anti-gly/ala antibodies that cross-react with host proteins containing configurations like those in the EBNA-1 repeat. One such antigen is RALY which is a member of the heterogeneous nuclear ribonucleoprotein gene family. 1580863 9376072,17081983,16807684,16713569,15489334,12477932,11991638,11780052,10500250,9373149,8125298,7533788 22913 NM_016732,NM_007367,AL031668,BC105018,BC103753,CR595464,CR596021,CR596751,CR597090,CR599150,CR599587,CR600862,CR603257,CR604151,CR606402,AL034549,CH471077,AF148457,AK222915,AK226085,AK291054,AK291079,CR609461,CR611602,CR612346,CR613485,CR613686,CR614904,CR615132,CR615528,CR617105,CR620280,CR622300,CR623593,CR623780,CR625534,CR626461,CR626560,L38696 NP_057951,NP_031393,CAB43742,AAI03754,AAI05019,CAI22146,CAI22147,CAI22148,CAI22149,CAI22150,EAW76287,EAW76288,EAW76289,EAW76290,EAW76291,AAF04487,BAD96635,BAF83743,BAF83768,AAC28898,Q53GL6,Q5QPL9,Q5QPM1,Q5QPM2,Q9UKM9 Hs.136947 GDB:9957723 HNRPCL2|MGC117312|P542 rna binding protein (autoantigenic, hnrnp-associated with lethal yellow) protein-coding 1606457 RALYL RALY RNA binding protein-like 16344560,16189514,14702039,12688537,12477932,9110174,8619474 138046 NM_001100392,NM_001100393,NM_173848,NM_001100391,AC009901,AC012400,AC027043,AC087368,AC092699,AC092709,AC103816,CH471068,AF070623,AF495529,AF495530,AK094543,AK095026,AK095560,AK123437,BC031090,CR596538,DA143105,DN989439 NP_001093862,NP_001093863,NP_776247,NP_001093861,EAW87116,EAW87117,EAW87118,AAO85516,AAO85517,BAC85617,AAH31090,Q86SE5 Hs.121663 HNRPCL3 protein-coding 735949 RAMP1 receptor (G protein-coupled) activity modifying protein 1 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. 1580863 9620797,18240900,18198792,17785463,17493758,17310067,16912219,15613468,15489334,15245870,14722252,12684503,12574158,12565884,12477932,12446722,12419522,12234182,12093471,11973435,11937264,11847213,11754963,11535606,11060459,10385705,10354609,14615490,11733510,11693189 10267 NM_005855,AC012076,AC016776,CH471063,AI017108,AJ001014,AY265457,BC000548,BM126103,CR542032,CR542044,CR621253 NP_005846,AAY14674,AAY24219,EAW71127,CAA04472,AAP23298,AAH00548,CAG46829,CAG46841,O60894,Q53SN3,Q53T50,Q6FGS5,ABM82831,ABM86017 Hs.471783 GDB:9955836 protein-coding 735315 RAMP2 receptor (G protein-coupled) activity modifying protein 2 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. 1580863,61729,704370,1642684,1642701,1642678,1625300,1642679,1642682,1625307,1642683,1625319,1642686 10882736,9620797,17671114,16912219,16531504,16410241,15613468,15489334,15245870,12565884,12477932,12446722,12419522,12093471,11973435,11754963,11591721,11387328,11060459,10767413,10354609,10217420,14722252,14615490 61729,704370,1642684,1642701,1642678,1625300,1642679,1642682,1625307,1642683,1625319,1642686 10266 NM_005854,AC100793,CH471152,AJ001015,AL548945,AY265458,BC027975,CR590147,CR621805,EF687002 NP_005845,EAW60877,EAW60878,CAA04473,AAP23299,AAH27975,ABS28868,O60895,ABM84247,ABM87635 Hs.514193 GDB:9955835 protein-coding 737378 RAMP3 receptor (G protein-coupled) activity modifying protein 3 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. 1580863 10882736,9620797,16912219,16410241,15805108,15613468,15489334,15342556,14702039,14615490,12939163,12853948,12690205,12565884,12477932,12446722,12419522,12093471,11973435,11693189,11591721,11387328,11060459,10385705,10354609,9373149,8125298,14722252 10268 NM_005856,AC004844,AC013416,CH236960,CH471128,AJ001016,AK128765,AK222469,AY265459,BC022304,BC053852,BP347072,CR592589 NP_005847,EAL23743,EAW61048,EAW61049,EAW61050,CAA04474,BAD96189,AAP23300,AAH22304,AAH53852,O60896,Q53HW1,Q7Z2Y1,ABM82297 Hs.25691 GDB:9955838 protein-coding 1348006 RAN RAN, member RAS oncogene family RAN (ras-related nuclear protein) is a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The RAN protein is also involved in control of DNA synthesis and cell cycle progression. Nuclear localization of RAN requires the presence of regulator of chromosome condensation 1 (RCC1). Mutations in RAN disrupt DNA synthesis. Because of its many functions, it is likely that RAN interacts with several other proteins. RAN regulates formation and organization of the microtubule network independently of its role in the nucleus-cytosol exchange of macromolecules. RAN could be a key signaling molecule regulating microtubule polymerization during mitosis. RCC1 generates a high local concentration of RAN-GTP around chromatin which, in turn, induces the local nucleation of microtubules. RAN is an androgen receptor (AR) coactivator that binds differentially with different lengths of polyglutamine within the androgen receptor. Polyglutamine repeat expansion in the AR is linked to Kennedy's disease (X-linked spinal and bulbar muscular atrophy). RAN coactivation of the AR diminishes with polyglutamine expansion within the AR, and this weak coactivation may lead to partial androgen insensitivity during the development of Kennedy's disease. 1961752,7878053,10400640,15572661,8421051,10408446,7603572,9405152,9837918,18268099,18241036,18205094,18003734,17761537,17671426,17426026,17081065,16930555,16807353,16572426,16449645,16428860,16368437,16294017,15761153,15691838,15635413,15632149,15592455,15574332,15574331,15489334,15383276,15014043,14758368,14684163,14675621,14612415,14600264,16572176,14585972,14500717,12477932,12415012,12384575,12211070,12194828,12176322,12138183,12134013,12101123,12051861,11809816,11779226,11777942,11774384,11571268,11447110,11425870,11420673,11310559,11290418,11042152,10944119,10786834,10779340,10679025,10567585,10518602,10397761,10394366,10369786,10353245,10318915,10209022,10202161,10078529,10037787,10022920,9822603,9817760,9660920,9637251,9562972,9533885,9368653,9323134,9323133,9219684,9214382,9135132,9114010,9045717,8757804,8692944,8643389,8576188,7891706,7885480,7744835,2108320,1855255,1602151,11782423,14592989,16189514,15522285,12070164,8896453,10367892,8896452,7627554,7615630 5901 AAB24940 NM_006325,AC073912,CH471054,AB062399,AF052578,AF054183,AF501887,AL357616,BC000852,BC004272,BC014518,BC014901,BC022813,BC051908,BC072000,BT007271,CR450347,CR592005,CR598832,CR600935,CR603594,CR605512,CR605944,CR606066,CR606799,CR609365,CR609528,CR612374,CR615819,CR621609,CR622422,CR623285,M31469,BC016654 NP_006316,EAW98515,EAW98516,EAW98517,BAB93486,AAC05840,AAC99400,AAM15923,AAH04272,AAH14518,AAH16654,AAH51908,AAH72000,AAP35935,CAG29343,AAA36546,AAB24940,P62826,ABM83284,ABM86491,AAH14901 Hs.10842 GDB:4642521 ARA24|Gsp1|TC4 protein-coding 1321469 RANBP1 RAN binding protein 1 Ran/TC4-binding protein, RanBP1, interacts specifically with GTP-charged RAN. RANBP1 encodes a 23-kD protein that binds to RAN complexed with GTP but not GDP. RANBP1 does not activate GTPase activity of RAN but does markedly increase GTP hydrolysis by the RanGTPase-activating protein (RanGAP1). The RANBP1 cDNA encodes a 201-amino acid protein that is 92% similar to its mouse homolog. In both mammalian cells and in yeast, RANBP1 acts as a negative regulator of RCC1 by inhibiting RCC1-stimulated guanine nucleotide release from RAN. 1580863 7616957,7882974,17353931,16130169,17940066,16428860,15461802,15459234,14702039,14585972,12840069,12477932,11804793,10811801,10779340,10330396,9373149,9111043,8255297,8125298,7891706 5902 NM_002882,AC006547,CH471176,AK097659,AK223506,BC071998,CR456556,CR590513,D38076,X83617 Q53EY3,Q6IPB3,Q6IPB4,AAI52786,CAK54587,CAK54886,NP_002873,EAX02986,EAX02987,EAX02988,EAX02989,EAX02990,EAX02991,EAX02992,EAX02993,EAX02994,BAD97226,CAG30442,BAA07269,CAA58592,P43487 Hs.24763 GDB:4642756 HTF9A|MGC88701 protein-coding 1343804 RANBP10 RAN binding protein 10 16498413,14702039,14684163,12477932,12421765,12147692,10819331 57610 NM_020850,AC010530,AC040162,CH471092,AB040897,AK000686,AK055634,AK055727,AY337313,BC099917,BC121176,BC121177,CR606759 NP_065901,EAW83167,EAW83168,BAA95988,AAR01220,AAH99917,AAI21177,AAI21178,Q6VN20 Hs.368569 FLJ31165|KIAA1464 protein-coding 1345238 RANBP17 RAN binding protein 17 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM] 1580863 11024021,14702039,11071879 64901 AF222747,AJ271459,AJ288952,AJ288953,AJ288954,AJ288955,AK027880,AK057478,AL832980,BC030953,NM_022897,AC008514,AC010306,AC016574,AC018753,AC021077,AC091980,CH471062 EAW61455,EAW61456,EAW61457,EAW61458,EAW61459,EAW61460,EAW61461,EAW61462,EAW61463,EAW61464,AAG44255,CAC81055,CAC81806,CAC81807,CAC81808,CAC81809,BAB55427,BAB71504,CAH56326,Q546R4,Q658U9,Q8IU74,Q8IVM9,Q96M10,Q9H2T7,AAI48560,NP_075048,EAW61454 Hs.410810 GDB:11508575 FLJ32916 protein-coding 1351414 RANBP2 RAN binding protein 2 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. 1580863 7603572,16332688,17353931,12228227,18080148,17887960,17168522,17081983,17069463,16964243,16688858,16620772,16586133,16565220,15931224,15826666,15815621,15608651,15388847,15378033,15302935,15144186,15037602,12963708,12393906,12192048,12191015,12138183,12032081,11854305,11792325,11709548,11553612,11353387,11266456,10601307,10473610,10318915,10078529,9733766,9480752,9398662,9244446,9144189,9114010,9037092,9019411,8857542,7882974,7775481,7724562,7559465 5903 NM_006267,AC010095,L41840,AA971491,AB209483,AK025462,AK025711,AK026993,AY170822,D42063,DB525378,U19240,U19248 NP_006258,AAY14984,AAC41758,BAD92720,AAO13594,BAA07662,AAA85837,AAA85838,P49792,Q13073,Q5JC45,Q5JC46 Hs.199561,Hs.590897 GDB:4642758 NUP358|TRP1|TRP2 protein-coding 1352244 RANBP20P RAN binding protein 20 pseudogene 326627 NG_002609,AL163636 pseudo 1313698 RANBP3 RAN binding protein 3 This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 9637251,11932251,17353931,18280241,17081983,15489334,15057824,14702039,14612415,12477932,11571268,11425870,9373149,8125298,16189514 8498 AK025300,AK125183,AK222813,AK222990,AL050149,BC004349,CR590146,CR591841,CR593954,CR594790,CR604730,CR605996,CR606736,CR612902,CR616491,DQ234346,Y08697,Y08698,Y08699,NM_003624,NM_007322,NM_007320,AC004602,AC005784,AC093050,CH471139 EAW69120,EAW69121,EAW69122,EAW69123,EAW69124,BAB15106,BAD96710,CAB43293,AAH04349,ABB29975,CAA69956,CAA69957,CAA69958,O75761,Q308M8,Q53GE1,Q53GW8,Q9H6Z4,NP_003615,NP_015561,NP_015559,AAC14485 Hs.531752 GDB:9955288 DKFZp586I1520 protein-coding 1602423 RANBP3L RAN binding protein 3-like 12477932 202151 NM_145000,AC008807,AC114277,CH471119,AK058151,BC017951,BC047660 NP_659437,EAW55942,EAW55943,EAW55944,BAB71689,AAH47660,Q86VV4 Hs.199777 FLJ25422 protein-coding 1313031 RANBP6 RAN binding protein 6 1580863 15489334,15164053,14702039,12477932 26953 BC019838,NM_012416,AL162384,CH471071,AF039023,AI568841,AK001982,BC012805,BC037423,BC098406,BX537405,CR601099 NP_036548,EAW58753,AAC14260,AAH12805,AAH98406,CAD97647,O60518,Q5T7X3 Hs.167496 GDB:10795697 protein-coding 1344686 RANBP9 RAN binding protein 9 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. 14722085,14574404,14511641,12812986,12684061,12559565,12477932,12361945,12226704,12147692,12084015,12082530,11470507,10471364,9817760,12220523,12421467,14500717,17467196,16595702,16478441,16364241,15964779,15558019,15489334,15381419,16000162,15606899,12470648,12800254 10048 Z93020,AB008515,AB055311,AF064606,AF306510,BC019886,BC052781,BC053374,BC063849,NM_005493,AL441883,CH471087 EAW55344,EAW55345,CAI21594,BAA23216,BAB62525,AAC17111,AAK15469,AAH19886,AAH52781,AAH63849,O60738,Q96S59,NP_005484,CAI19841,EAW55341,EAW55342,EAW55343 Hs.306242 GDB:9954929 RANBPM protein-coding 1321254 RANGAP1 Ran GTPase activating protein 1 RanGAP1, is a homodimeric 65-kD polypeptide that specifically induces the GTPase activity of RAN, but not of RAS by over 1,000-fold. RanGAP1 is the immediate antagonist of RCC1, a regulator molecule that keeps RAN in the active, GTP-bound state. The RANGAP1 gene encodes a 587-amino acid polypeptide. The sequence is unrelated to that of GTPase activators for other RAS-related proteins, but is 88% identical to Fug1, the murine homolog of yeast Rna1p. RanGAP1 and RCC1 control RAN-dependent transport between the nucleus and cytoplasm. RanGAP1 is a key regulator of the RAN GTP/GDP cycle. 1580863 7878053,17000644,17353931,8978815,17081983,16620772,16565220,16428860,15931224,15489334,15461802,15355965,15302935,12477932,12192048,11854305,11853669,11347906,10591208,10394366,9920803,9556629,9442102,9219684,9214382,9019411,8973340,8146159,7744835,16189514,12924945,15546615 5905 NM_002883,AL035681,CH471095,AB058738,BC004990,BC014044,BC019676,BC041396,BC048990,BM551472,CR456557,CR595421,CR597202,CR599804,CR615880,X82260 NP_002874,CAB63073,EAW60420,EAW60421,EAW60422,EAW60423,EAW60424,BAB47464,AAH04990,AAH14044,AAH19676,AAH41396,CAG30443,CAA57714,P46060,Q8WUS7,Q96JJ2,Q9BSK3,CAK54588,CAK54887 Hs.183800 GDB:9834853 Fug1|KIAA1835|MGC20266|SD protein-coding 1602892 RANGRF RAN guanine nucleotide release factor 18184654,12477932,11733047,11290418,11042152,10811801,16189514 29098 AC135178,CH471108,AF151070,AF161514,AF168714,AF265205,AF265206,AK290399,BC006486,BC012552,BC100017,CR457206,CR749387,NM_016492 NP_057576,EAW90064,EAW90065,EAW90066,AAF36156,AAF29129,AAF87316,AAG01291,AAG01292,BAF83088,AAH06486,AAH12552,AAI00018,CAG33487,CAH18237,Q9HD47 Hs.408233 DKFZp686F02139|HSPC165|HSPC236|MGC110973|MOG1|RANGNRF protein-coding 1346292 RANP1 RAN, member RAS oncogene family pseudogene 1 16702430,10557312 221547 NG_002749,AB014080,AB088093,AB103599,AL662822,AL662873,AL844213,BA000025 BAC54924,BAF31259,BAB63329,Q0EFC9,Q96QB7 Ras-like|TC4 pseudo 1352228 RAP1A RAP1A, member of RAS oncogene family The product of this gene belongs to the family of RAS-related proteins. These proteins share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between RAP proteins and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. The product of this gene counteracts the mitogenic function of RAS because it can interact with RAS GAPs and RAF in a competitive manner. Two transcript variants encoding the same protein have been identified for this gene. 10777492,11022048,16284401,17382517,16888288,16710414,16219685,16118622,15711749,15677455,15661741,15657046,15613546,15601837,15591041,15569673,15489334,15374886,15302884,15064832,15031297,15031288,13679863,12845325,12477932,12444546,11880369,11788600,11786539,11429608,11335720,10926822,10922060,10224125,10085114,9882515,9867809,9285558,8756332,8449039,7791872,3144274,3143720,3141412,3045729,2642744,11948427,10454553,11466412,15469846,15856025,2507536,2108841,1899909,1312373,12874025,12842888,12581858,11524421,2158984,16189514,10934204,2164710 5906 NM_002884,A08691,AL049557,AL139012,CH471122,AB051846,AF493912,AK293044,BC014086,BI460853,BT019666,BU150941,CR597469,CR623933,M22995,X12533,NM_001010935 Q5U0C3,NP_001010935,NP_002875,CAA00804,EAW56503,BAB61868,AAM12626,BAF85733,AAH14086,AAV38472,AAA36150,CAA31051,P62834,Q5QPH6 Hs.190334 GDB:120335 KREV-1|KREV1|RAP1|SMGP21 protein-coding 1353984 RAP1AP RAP1A, member of RAS oncogene family pseudogene 8449039 5907 NG_007117,NG_004799,AC005479 GDB:141858 KREV1P|SMGP21A pseudo 736930 RAP1B RAP1B, member of RAS oncogene family RAP1B and RAP1A (MIM 179520) belong to a superfamily of RAS (see MIM 190020)-like small GTP-binding proteins involved in cell signaling.[supplied by OMIM] 16381901,16357324,16118622,15863506,15489336,15489334,15078882,14702039,13679863,12665801,12477932,12407113,12089143,11994301,11258948,11230166,11076863,9488663,8939933,8524240,7803284,3141412,3137530,2123345,2105724,1696481,16189514,15141215 5908 NM_015646,NM_001010942,A08693,AC015550,CH471054,EF581377,AA809981,AB062128,AF279894,AF493913,AJ420497,AK127392,AL080212,BC000176,BC078173,BC095467,BG717530,BT020093,CR407689,CR590134,CR593875,CR594687,CR605282,CR607068,CR611640,CR612227,CR617598,X08004 NP_056461,NP_001010942,CAA00805,EAW97189,EAW97190,EAW97191,EAW97192,EAW97193,ABQ52130,BAB93460,AAK07551,AAM12627,CAB45777,AAH00176,AAH78173,AAH95467,AAV38896,CAG28617,CAB46488,P61224,Q9BXV4,CAL38121 Hs.369920 GDB:120336 DKFZp586H0723|K-REV|RAL1B protein-coding 1320507 RAP1GAP RAP1 GTPase activating protein 1580863 17954608,17716979,17702895,17646383,17517894,17487743,17300802,17068197,16963453,16820412,16751380,16716258,16540189,16436672,16424023,15725075,15657046,15479739,15254236,15141215,14757755,14660640,14607972,14576067,1904317,10476970,14551137,12891710,12590145,12477932,12464615,12393539,12393469,12221082,12198116,12171996,12091396,12082090,11278445,10854065,10593970,8939933,8275700,1406653,9455484,9346962 5909 NM_002885,AL359815,CH471134,AB003930,AB007943,BC035030,BC054490,CR612391,M64788 NP_002876,CAI16250,CAI16253,CAI16254,CAI16255,CAI16257,CAI16258,EAW94979,EAW94980,EAW94981,EAW94982,EAW94983,EAW94984,EAW94985,EAW94986,BAA83674,BAA32319,AAH35030,AAH54490,AAA60252,O75062,P47736,Q49AP2,Q5T3S6,Q5T3S9,Q5T3T0,Q5T3T1,Q5T3T2,Q5T3T3,Q5T3T4,Q7Z5S8,Q9UQ51 Hs.148178 GDB:138177 KIAA0474|RAP1GA1|Rap1GAP1|rap1GAPII rap1, gtpase activating protein 1 protein-coding 1318400 RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 1580863 1549351,17951244,16189514,14702039,14615375,12690117,12477932,11948427,8900189,8262526 5910 NM_021159,NM_001100428,NM_001100430,NM_001100427,NM_001100429,AC019077,AC058823,AC078961,CH471057,AF215923,AF237413,AI800264,AK055032,AY376900,BC001816,BC001851,BC098269,BC098334,BC099708,NM_001100426,BC099845,BT006837,CR615990,DC367998,X63465 NP_001093896,NP_066982,NP_001093898,NP_001093900,NP_001093897,NP_001093899,EAX06068,EAX06069,EAX06070,EAX06071,EAX06072,AAF32290,AAF43211,AAQ85126,AAH01816,AAH01851,AAH98269,AAH98334,AAH99708,AAH99845,AAP35483,CAA45067,P52306,Q499L7,Q4KMV2,Q4QQI8,Q6U7G8,Q9BUX6,ABM81687 Hs.132858 GDB:304522 GDS1|MGC118859|MGC118861|SmgGDS protein-coding 1348992 RAP2A RAP2A, member of RAS oncogene family 1580863 1900290,3045729,17918750,17716979,16963453,16540189,16246175,15761153,15752761,15489334,15342639,15057823,15031288,14966141,14702039,12581858,12477932,12444546,11857081,11524421,10926822,10862698,10777494,10591105,10224125,10085114,9523700,9312017,8424780 5911 NM_021033,A08695,AL442067,CH471085,AF205602,AF493914,AK090533,AK094586,BC022356,BC041333,BC047495,BC070031,X12534 NP_066361,CAA00806,CAI39499,EAX08974,AAN71845,AAM12628,AAH41333,AAH70031,CAA31052,P10114 Hs.508480 GDB:120742 K-REV|KREV|RAP2|RbBP-30 protein-coding 736861 RAP2B RAP2B, member of RAS oncogene family This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. 2118648,17316888,15613030,15489334,12477932,12444546,11877431,11786539,10085114,8424780,8391995,8356055,3045729,2115998,16189514,10934204 5912 NM_002886,AC117394,CH471052,AF493915,AL713766,BC012362,BF965860,X52987 NP_002877,EAW78771,AAM12629,CAI46163,AAH12362,CAA37178,P61225,Q5JQ44,ABM82628 Hs.98643 GDB:126960 MGC20484 protein-coding 1353605 RAP2C RAP2C, member of RAS oncogene family 737633,1580863 17447155,16213650,15772651,15489334,12477932 737633 57826 NM_021183,AL049792,CH471107,Z78022,AK124801,AL049685,AL832461,AY298955,BC003403,BC035382,BC051467,BX647223 NP_067006,EAX11782,EAX11783,CAB41256,AAP55684,AAH03403,Q9Y3L5 Hs.119889 DKFZp313B211 protein-coding 731405 RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. 9748234,7512734,16284401,7806500,17825818,17456239,17081983,16681758,15320955,15144186,15138850,15077165,14702039,14551197,12734187,12697763,12477932,12384139,12054111,11870224,11466412,11309621,11278445,10608804,10514505,10318861,9546424,9498705,9497377,9482107,9374471,9344843,9178909,9067577,8662907,8621483,8524240,7959692,15856025 2889 D21239,DQ925677,DQ925678,DQ925679,DQ925680,DQ925681,DQ925682,DQ925683,DQ925684,NM_005312,NM_198679,AL160271,AL160276,CH471090,AF467069,AJ420417,AK023727,AK023760,BC041710,BG429001,BG546427,BQ054243,BQ772947,CR595928,CR749354 CAH18207,BAA04770,ABL59904,ABL59905,ABL59906,ABL59907,ABL59908,ABL59909,ABL59910,ABL59911,Q13905,Q5JUE6,Q5T8F6,Q5T8F7,Q68DL3,Q7Z4P7,Q8IV73,NP_005303,NP_941372,CAI13381,CAI13382,CAI13383,CAI40645,CAI40646,CAI40647,CAI40649,CAI40650,CAI40651,EAW87985,EAW87986,AAP97718,AAH41710 Hs.127897 C3G|DKFZp781P1719|GRF2 c3g protein protein-coding 1315047 RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM] 1580863 10934204,10608883,17724123,16344560,12477932,12196628,12107413,11799111,10608844,10548487,9205841,9110174,8619474 9693 NM_014247,AC074344,AC095064,AC105316,CH471056,CQ772997,AB002311,AF070570,AL117397,BC110355,BC117321,BP386101,BU620827,CR621095,DA188103 NP_055062,AAY40909,EAX04847,EAX04848,CAF33926,BAA20772,CAB55899,AAI17322,Q17RH5,Q4W5Q4,Q9UFT5,Q9Y4G8 Hs.113912 CNrasGEF|NRAPGEP|PDZ-GEF1|PDZGEF1|RA-GEF|Rap-GEP protein-coding 1351216 RAPGEF3 Rap guanine nucleotide exchange factor (GEF) 3 632397,1580863 9853756,10777494,18434542,18064650,18032709,17993585,17895245,17884339,17599964,17565009,17284589,17203972,17068197,16940330,16914720,16880999,16754664,16751380,16728394,16344560,16115630,15601837,15591041,15545605,15489334,15374886,15319437,15302884,15274052,15202935,15146197,14702039,14615375,12783872,12707263,12574122,12477932,12469113,12384139,12000763,11801596,9856955,15856025 632397 10411 NM_001098531,NM_006105,NM_001098532,AC004241,CH471111,AF103905,AK055502,AK074444,AK092448,AK125545,AK290230,BC017728,BC040534,BC068477,BC092404,BQ007070,CN294139,DA340363,DA629958,DB179165,DB278856,U78168,U78169 NP_001092001,NP_006096,NP_001092002,EAW57944,EAW57945,EAW57946,EAW57947,EAW57948,EAW57949,AAC83381,BAF82919,AAH17728,AAH40534,AAH68477,AAH92404,AAD12740,AAD02890,O95398,Q569L6,Q6NUQ6,Q6PI83,ABM82487,ABM85674 Hs.8578 CAMP-GEFI|EPAC|EPAC1|MGC21410|bcm910 protein-coding 1351048 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 632397,1580863 9856955,11438518,10777494,17284589,16713569,15489334,15202935,14660679,14593429,12477932,12469113,12384139,11707077,11598134,11056535,8889548,16189514,15856025 632397 11069 NM_007023,NM_001100397,AC009484,AC018712,AC019046,AC104086,CH471058,AB027471,AB075513,AB209681,BC024004,BC040183,BI546558,BQ184791,DB471672,U78516 NP_008954,NP_001093867,AAY15071,AAY24186,EAX11167,EAX11168,EAX11169,BAB72179,BAE45759,BAD92918,AAH24004,AAH40183,AAD03422,Q3LIA9,Q53QY2,Q53TH3,Q59EY0,Q8WZA2,ABM92166,ABM84937 Hs.470646 CAMP-GEFII|CGEF2|EPAC2|Nbla00496 protein-coding 1343059 RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5 Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM] 1580863 10934204,10486569,15489334,15342556,12690205,12477932,10777494,9039502,15856025 9771 NM_012294,AC005079,AL833229,CH236948,AA732485,AA815190,AA890636,AL833195,AW511225,BC039203,BF512545,BP349215,D87467,DN996625,W56891 NP_036426,EAL24270,CAI46177,AAH39203,BAA13406,Q5JPD2,Q92565 Hs.174768,Hs.708781 GFR|KIAA0277|MR-GEF|REPAC protein-coding 1316955 RAPGEF6 Rap guanine nucleotide exchange factor (GEF) 6 11524421,17081983,17030554,15302935,14702039,12581858,12477932,12095257 51735 AC004227,AC004622,AC008497,AC008695,AC026754,CH471062,AF394782,AF478468,AF478469,AF478567,AK056296,AK074318,AL832899,BC133703,BC140820,NM_016340,BC142964,BX649095 NP_057424,AAC04379,EAW62368,AAK83368,AAL79915,AAL79916,AAM21637,BAB85049,AAI33704,AAI40821,AAI42965,O43386,Q68DF6,Q8TEA3,Q8TEU7,Q9UHV4 Hs.483329 DKFZp667N084|DKFZp686I15116|KIA001LB|PDZ-GEF2|PDZGEF2|RA-GEF-2 protein-coding 1347798 RAPGEFL1 Rap guanine nucleotide exchange factor (GEF)-like 1 1580863 9582122,9789079,12477932 51195 NM_016339,AC068669,CH471152,AF117946,BC029956,BC115374,BC115375 NP_057423,EAW60645,EAW60646,EAW60647,AAF22003,AAI15375,AAI15376,Q9UHV5 Hs.632254 Link-GEFII|MGC134798|MGC134799 protein-coding 1318125 RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 18076380,15815621,15642358,15609301,15586368,15469845,15302935,14702039,14506234,11586298,11214970 65059 NM_213589,NM_203365,AC018891,CH471063,AB051468,AB053311,AB053320,AF086189,AI217860,AJ584699,AK022729,AK095976,AK096270,AY494951,AY523977,AY523978,BE967038,BU620816 NP_998754,NP_976241,AAY14676,EAW70344,EAW70345,EAW70346,BAB21772,BAB69020,CAE48361,BAC04744,AAS82582,AAS16935,AAS16936,Q70E73,Q8N8R9,AAI56183,AAI56923 Hs.471162 ALS2CR18|ALS2CR9|KIAA1681|LPD|PREL2|RMO1|RalGDS/AF-6 protein-coding 1314835 RAPSN receptor-associated protein of the synapse This protein belongs to a family of proteins that are receptor associated proteins of the synapse. It contains a conserved cAMP-dependent protein kinase phosphorylation site. It is believed to play some role in anchoring or stabilizing the nicotinic acetylcholine receptor at synaptic sites. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Two splice variants have been identified for this gene. 1580863 8812503,18179903,16931511,16280586,15489334,15482960,15328566,15282317,15252722,15036330,14504330,12929188,12807980,12796535,12730725,12651869,12477932,12388596,11791205,11342559,11323662,11087759,10859577,10477765,9856458,9804166,9520483,9143560,9136771,7619516,16189514,12532399 5913 NM_032645,NM_005055,AC090559,CH471064,AF449218,BC004196,Z33905 NP_116034,NP_005046,EAW67914,EAW67915,AAL86639,AAH04196,CAA83954,Q13702,Q8TDF3 Hs.81218 GDB:1230174 CMS1D|CMS1E|MGC3597|RNF205 receptor-associated protein of the synapse, 43kd protein-coding 733999 RARA retinoic acid receptor, alpha 1600902,1580863 15249124,15246741,15171703,14737102,14705796,14702039,14691372,14592536,14559998,14521715,12935958,12935927,12835288,12810556,12691149,12549917,12505266,12482873,12477932,12468549,12420222,12403842,12399530,12393611,12235159,12213824,12193472,12138096,12101409,12080444,12060771,12009305,12000751,11971969,11929748,11891284,11812818,11574675,11439184,15255287,11358960,11331609,11274148,11106752,11014615,10938104,10882117,10882070,10872826,10860982,10786636,10760302,10698945,10617585,10611353,10567404,10531331,10480874,10454579,10361124,10337631,10207062,10022764,9795230,9773978,9717844,9653119,9642262,9632709,9628876,9491782,9445475,9267036,9115274,9005841,8616895,8562957,8302850,8244378,8051161,7566127,2899875,2825036,2218500,2175878,2170850,1652369,1347744,1311253,1310351,11158331,10823961,10610177,12943985,12874288,14581481,12039952,15308690,9920895,15729358,9238002,12805378,11382777,10866662,16432238,17560333,2825025,18212063,18180299,18000064,17993618,17991421,17960617,17761950,17656367,17628022,17611697,17595318,17475621,17456381,17451432,17272867,17272513,17252005,17244680,17005281,16797070,16769902,16728697,16713569,16630218,16606617,16540467,16504291,16480812,16449642,16424870,16417524,16341674,16311697,16289102,16239915,16203797,16189514,16113082,16085646,15870697,15839736,15831516,15809060,15808511,15746941,15674337,15635645,15601827,15489334,15337793 1600902 5914 NM_001024809,AC080112,AF088895,AF283809,CH471152,X56058,AK098172,AK130192,AK292205,AL522713,AL834159,BC008727,BC071733,BG394590,BM838347,CR457438,NM_000964,CR619304,CR600029,S50916,U41742,U41743,X06538,X06614,X58685 NP_000955,NP_001019980,AAD05222,AAF87249,EAW60652,EAW60653,EAW60654,EAW60655,EAW60656,EAW60657,EAW60658,CAA39533,BAF84894,CAH56277,AAH08727,AAH71733,CAG33719,AAB19602,AAB00112,AAB00113,CAA29787,CAA29829,CAA41532,P10276,Q658K5,Q6I9R7,ABM84457,ABM84670 Hs.654583 GDB:120337 NR1B1|RAR protein-coding 737497 RARB retinoic acid receptor, beta This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. The gene expresses at least two transcript variants; one additional transcript has been described, but its full length nature has not been determined. 1580863 2177841,2833708,18271925,18254975,18212063,18166136,18058812,18036402,17900311,17804711,17686773,17615267,17549354,17252005,17244680,17195188,17065567,17001699,16858683,16613851,16478744,16389900,16288117,16287870,16255778,16244585,16134180,16128742,15635645,15604252,15502323,15489334,15467435,15383624,15375805,15361842,15255287,15231748,15217932,15217922,15014026,14726690,14726683,14691372,14614007,14601057,12839965,12839938,12805409,12789467,12665583,12579317,12576329,12554770,12529350,12477932,12399530,12191570,12124324,12118004,12009305,11980632,11945179,11925591,11839665,11834837,11769677,10411930,10198169,9005841,8950166,8754792,8612722,8383553,8275470,7628539,3014347,2844650,2836738,2825037,2170809,2153268,1663808,1379266,1332705,1331778,1321662,15688037 5915 NM_000965,NM_016152,AC093416,AC098477,AC133141,CH471055,M57445,M96023,X04014,X56849,X77664,AF157483,AK292032,AY501390,BC030234,BC050415,BC060794,CR536558,CR621137,DQ083391,X07282,Y00291 NP_000956,NP_057236,EAW64354,EAW64355,AAA58728,CAA27637,CAA54740,AAD45688,BAF84721,AAS85757,AAH50415,AAH60794,CAG38795,AAZ32403,CAA30262,CAA68398,P10826,Q15299,Q3SB16,Q5QHG3,Q5U645,Q6FHY0,Q86UC5 Hs.654490 GDB:120338 HAP|NR1B2|RRB2 protein-coding 735465 RARG retinoic acid receptor, gamma 1580863 10428834,2157970,17325034,17252005,16344560,15839736,15734736,15635645,15489334,15383624,14705796,14691372,12665583,12554770,12477932,12399530,12220491,12189556,11855864,9865725,9852056,9501913,9491782,9083083,8301142,7685085,7501014,2546152,2172793,2157210,1849262,1655630,1320193,1318502,1310259,10835357,14657503 5916 NM_001042728,AC021072,AC073573,AF319970,NM_000966,AJ250835,AY013703,AY013704,CH471054,X57280,AK290588,AL701206,BC019098,BC064524,BC072462,BC093727,BC093729,BC098421,CO394652,CR593723,CR613580,DA552724,L12060,M24857,M32074,M38258,M57707 NP_000957,NP_001036193,AAK07421,CAB60726,AAG41594,AAG41595,EAW96676,EAW96677,EAW96678,CAA40548,BAF83277,AAH93727,AAH93729,AAA52692,AAA60253,AAA60254,AAA63254,P13631,Q4KMP5,Q6IN48,Q6P2H5,Q9BZI0 Hs.1497 GDB:126426 NR1B3|RARC protein-coding 1319886 RARRES1 retinoic acid receptor responder (tazarotene induced) 1 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. 1580863 9270552,8601727,16134180,16128742,15489334,15059893,14691453,12477932,11929948 5918 NM_206963,NM_002888,AC080013,CH471052,AK130079,AW514087,BC029640,BM919188,CR595342,CR603753,U27185 NP_996846,NP_002879,EAW78675,EAW78676,AAH29640,AAA99722,P49788,ABM82259,ABM84293,ABM85442,ABM87683 Hs.131269 GDB:9834224 TIG1 protein-coding 1320450 RARRES2 retinoic acid receptor responder (tazarotene induced) 2 Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES2 is thought to act as a cell surface receptor. 1580863 9204961,18242188,17767914,17635925,16096270,15972683,15728234,15489334,14702039,14530373,12853948,12690205,12477932,10072769,9270552 5919 NM_002889,AACC02000108,AC005586,CH471173,AB015632,AK092804,BC000069,CR541992,CR542026,CR591132,CR601678,CR604348,CR616556,U77594 NP_002880,EAL24473,AAS00384,EAW54120,EAW54121,BAA76499,AAH00069,CAG46789,CAG46823,AAB47975,Q7LE02,Q99969 Hs.647064 GDB:9834225 CHEMERIN|HP10433|TIG2 protein-coding 1342575 RARRES3 retinoic acid receptor responder (tazarotene induced) 3 Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. 1580863 9843971,18268020,18243112,18174256,17762858,17516545,17403696,17196792,17093192,17053203,16344560,15856468,15850806,15846304,15742394,15489334,15208624,12928434,12879006,12477932,11078805,10955811,10687848,9270552,9204961 5920 NM_004585,AP001591,CH471076,AB030815,AF060228,AF092922,BC009678,DA973023,R55646 NP_004576,EAW74156,BAB08109,AAC84000,AAF02294,AAH09678,Q9UL19,ABM82370,ABM85548 Hs.17466 GDB:9834226 HRASLS4|MGC8906|RIG1|TIG3 protein-coding 1319432 RARS arginyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. 1580863 17353931,7590355,17443684,16344560,16055448,15489334,12665801,12477932,10913161,10801842,10358004,9878398,9556618,9373149,8889548,8125298,6530022,1651330,562050 5917 NM_002887,AC020894,CH471062,AK222797,AU125370,BC000528,BC014619,BM984528,BT007394,CA439316,CR606014,CR608263,CR615478,CR616753,CR619064,S80343 NP_002878,EAW61507,BAD96517,AAH00528,AAH14619,AAP36058,AAB35627,P54136,Q53GY4 Hs.654907 GDB:1313718 ArgRS|DALRD1|MGC8641 protein-coding 1313439 RARS2 arginyl-tRNA synthetase 2, mitochondrial 737633 17353931,17847012,15779907,15489334,14702039,14574404,12477932 737633 57038 NM_020320,AL049697,AL451126,CH471051,AF143874,AK023550,AK093934,BC010420,BC022341,BC105784,CR611793,CR625441 NP_064716,CAI20376,CAI10898,CAI10899,EAW48584,EAW48585,EAW48586,EAW48587,EAW48588,EAW48589,EAW48590,EAW48591,BAB14608,AAH10420,Q5T160,Q8TBM0,Q9UHS7 Hs.485910 DALRD2|MGC14993|MGC23778|PCH6|PRO1992|RARSL|dJ382I10.6 protein-coding 732468 RASA1 RAS p21 protein activator (GTPase activating protein) 1 The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. 1581296,737716,1580863,1300048 1717825,1633149,1544885,1383690,1347942,1336372,1331107,10822173,16189514,1512257,1385407,10769036,1689011,7689724,2173144,8890167,2164710,2172781,2123878,1850098,9008161,8955277,8798684,8766817,8663024,8618896,8570203,8537347,8395016,8384556,8360177,8275088,8270251,8155326,8137811,8084603,8006063,7782336,7760813,7691175,7642582,7628625,7544435,3201259,2833817,2574500,2307479,2122974,2188736,1553544,2157284,2176151,1581965,8344248,15542850,9113414,2821624,18024870,16971514,16051609,16046410,15917201,15713673,15688026,15592455,15504032,15489334,15187129,15121898,15041706,15010862,14639529,12730241,12730209,12679785,12477932,12441060,12112020,11976319,11896619,11847220,11786539,11751853,11604231,11536198,11350068,11331873,11116152,11071635,10899172,10799545,10790433,10713673,10708762,10697503,10669731,10644995,10571081,10508618,10319320,10200531,10187839,10092539,9674711,9632780,9603468,9564850,9233798,9219684,9218456,9174053,9169421,9079622,9034330 1581296,737716 5921 NM_002890,NM_022650,AC010410,AC018754,AC035142,AC126776,CH471084,AB209106,BC020761,BC033015,BC054891,BC070063,BC107870,CR749722,M23379,M23612 NP_002881,NP_072179,EAW95931,EAW95932,EAW95933,BAD92343,AAH20761,AAH33015,AAH54891,CAH18488,AAA52517,AAA35865,P20936,Q05CU5,Q68CU6,Q7Z4M2,Q59GK3 Hs.695926 GDB:120339 CM-AVM|CMAVM|DKFZp434N071|GAP|PKWS|RASA|RASGAP|p120GAP|p120RASGAP ras p21 protein activator 1 protein-coding 735538 RASA2 RAS p21 protein activator 2 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member has a perinuclear localization and is an inositol 1,3,4,5-tetrakisphosphate-binding protein; a compound suggested to function as a second messenger. 1580863 8812506,10074452,9382842,8917095,8699317,9796816,14530271 5922 AB209161,AF115573,AK292016,D78155,D82880,NM_006506,AC010184,AC092977,CH471052,D78156,D82881 BAD92398,AAD09821,BAF84705,BAA11230,BAA11621,Q15283,Q59GE8,NP_006497,EAW78998,EAW78999,BAA11231,BAA11622 Hs.655941 GDB:4642784 GAP1M protein-coding 1343935 RASA3 RAS p21 protein activator 3 The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This family member is an inositol 1,3,4,5-tetrakisphosphate-binding protein, like the closely related RAS p21 protein activator 2. The two family members have distinct pleckstrin-homology domains, with this particular member having a domain consistent with its localization to the plasma membrane. 1580863 7637787,10828023,15592455,14702039,12477932,12356770,11350068,10869341,10049724,9382842,7782336,7691175,2158984 22821 NM_007368,AL161774,BX537329,CH471085,AK128094,AK289746,BC038456,BC047242,X89399 NP_031394,EAX09232,EAX09233,EAX09234,BAF82435,AAH38456,AAH47242,CAA61580,Q14644,Q5T826,Q8IUY2 Hs.655219 GDB:9957159 GAP1IP4BP|GAPIII|MGC46517|MGC47588 protein-coding 1319785 RASA4 RAS p21 protein activator 4 This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 12853948,12477932,11594756,9628581,11448776,16344560,16009725,15489334,14702039 10156 NM_001079877,NM_006989,AC105052,CH471128,AB011110,AC004084,AK026441,AK093486,BC110873,BC113663,BG289308,BQ890546,CR609509,CR622652,DA028746,DA841834,DB114101 NP_001073346,AAB97935,AAP22345,EAW61133,BAA25464,NP_008920,AAI10874,AAI13664,O43374,Q2NL74 Hs.696339,Hs.700609 CAPRI|GAPL|KIAA0538|MGC131890 protein-coding 1323476 RASAL1 RAS protein activator like 1 (GAP1 like) The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. 1580863 9751798,17640920,16009725,15489334,12477932,12221082,11230166,15960973 8437 NM_004658,AC089999,CH471054,AB208935,AF086713,BC014420,BC093724,AL136672 NP_004649,EAW98031,EAW98032,EAW98033,EAW98034,EAW98035,EAW98036,EAW98037,BAD92172,AAD09006,AAH14420,AAH93724,O95294,Q59H24,CAB66607,ABM83241,ABW03486 Hs.528693 GDB:9835129 RASAL protein-coding 1316836 RASAL2 RAS protein activator like 2 This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863 9877179,17081983,16710414,15324660,14743216,14702039,12477932,9455484,8889548,8226805 9462 NM_170692,NM_004841,AL035702,AL160281,AL365357,AL499617,CH471067,AB007970,AB209789,AF047711,AK000981,AK022662,AK075169,AK127614,AK290308,AV706305,BC030292,BC041045,BC063442,BC078167,BC110611,BM973231 NP_733793,NP_004832,CAI21911,EAW91017,EAW91018,EAW91019,BAD93026,AAD04814,BAC87057,BAF82997,AAH41045,AAH63442,AAH78167,AAI10612,Q2TB22,Q59EM2,Q5TFV0,Q5VV71,Q6P4F9,Q6ZS97,Q8IW42,Q9UJF2 Hs.656823 GDB:9956769 MGC129919|nGAP protein-coding 731548 RASD1 RAS, dexamethasone-induced 1 This gene encodes a Ras-related protein that is stimulated by dexamethasone. The exact function of this gene is unknown, but it may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. In addition, studies of a similar rat protein suggest that it functions as as a novel physiologic nitric oxide (NO) effector. The gene product belongs to the Ras superfamily of small GTPases. 10471929,10840027,10673050,17167088,16489124,16381901,16225846,16189514,15489336,15489334,15184869,12818426,12498886,12477932,11997338,11842095,11241162,11086993,11076863,10947988,9452419 51655 NM_016084,AC073621,AF222979,AF262018,CH471196,AF069506,AF153192,AF172846,AF177335,AF498923,BC018041,BC042688,CR596563 NP_057168,AAG44256,AAF72997,EAW55705,AAD34206,AAD34621,AAF01364,AAG17979,AAM21071,AAH18041,Q0JSC2,Q9HC43,Q9Y272,CAL37859,CAL38036,CAL38592 Hs.25829 GDB:11508259 AGS1|DEXRAS1|MGC:26290 dexras1 (dexras1) protein-coding 1346276 RASD2 RASD family, member 2 This gene encodes a Ras-related protein that enriched in striatum. The product of this gene binds to GTP and possesses intrinsic GTPase activity. The gene belongs to the Ras superfamily of small GTPases. The exact function of this gene is unknown, but most striatum-specific mRNAs characterized to date encode components of signal transduction cascades. 704350,1580863 11976265,17556863,16945334,15761153,15489334,15461802,14724584,12477932,10947988,10591208,10467249 704350 23551 NM_014310,AL022334,CH471095,AF279143,AL831936,BC013419,CR456477 NP_055125,CAI21838,EAW60064,AAG00868,AAH13419,CAG30363,Q96D21,CAK54458,CAK54757,ABM83672,ABM86960 Hs.474711 GDB:11500152 MGC:4834|Rhes|TEM2 protein-coding 1315020 RASEF RAS and EF-hand domain containing 737633,1580863 14702039,12477932 737633 158158 NM_152573,AL499602,CH471089,AK056176,AK290986,BC023566 NP_689786,CAH70678,CAH70679,EAW62643,EAW62644,BAB71112,BAF83675,AAH23566,Q8IZ41 Hs.657750 FLJ31614|RAB45 protein-coding 1314108 RASGEF1A RasGEF domain family, member 1A 737633,1580863 15829955,15759212,14702039,12477932 737633 221002 NM_145313,AC068707,CH471160,AK095136,AK127432,BC022548 NP_660356,EAW86590,EAW86591,BAC04491,AAH22548,Q8N9B8 Hs.125293 CG4853|FLJ37817 protein-coding 1348873 RASGEF1B RasGEF domain family, member 1B 1580863 14702039,12488504,12477932 153020 NM_152545,AC006287,AC093618,AC093747,CH471057,AK056257,AK291459,BC036784,BC121003,BC121004,BX648337 NP_689758,AAY41054,AAY40982,EAX05869,BAB71130,BAF84148,AAH36784,AAI21004,AAI21005,Q0VAM2,Q8N437 Hs.591696 FLJ31695|GPIG4|MGC46251 protein-coding 1323065 RASGEF1C RasGEF domain family, member 1C 737633,1580863 14702039,12477932,8889548 737633 255426 NM_175062,AC104115,AC122713,CH471165,AF449764,AK093160,BC036802,BC057759,BF967301,BM729117 NP_778232,EAW53769,EAW53770,EAW53771,AAP97676,BAC04079,AAH36802,AAH57759,Q8N431 Hs.190559 FLJ35841 protein-coding 1344062 RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1 The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863 10918068,17611684,17030618,16969075,16855028,14749369,14702039,12477932,12095702,10681520,10220378,9384379,7828890,7684828,7637786,1379731,12775420,10713667,11533041,9543386,9154803,12384139,10882715,11500497 5923 NM_153815,AC011944,AC104231,CH471136,AF370414,AK092325,AK226101,AK290135,AL359931,BC040275,L26584,M91815,S62035,NM_002891 Q8IUU5,Q8N849,NP_002882,NP_722522,EAW99141,EAW99142,AAQ15250,BAF82824,AAH40275,AAA58417,AAB26881,Q13972,Q71RC4 Hs.591111 GDB:282687 CDC25|CDC25L|GNRP|GRF1|GRF55|H-GRF55|PP13187 protein-coding 69460 RASGRF2 Ras protein-specific guanine nucleotide-releasing factor 2 RAS (MIM 190020) GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. Guanine-nucleotide exchange factors (GEFs), such as RASGRFs, stimulate the conversion of the GDP-bound form into the active form.[supplied by OMIM] 1580863 17923690,16596198,14749369,14702039,12477932,11856323,10373510,9707409,9032266,9027497,17353931 5924 NM_006909,AC020901,AC026427,CH471084,CQ834808,AF023130,AF181250,AK094809,AL598102,BC126112,CR749239 NP_008840,EAW95863,CAH05619,AAB80953,AAD55268,AAI26113,CAH18095,O14827,Q68DX5 Hs.162129 GDB:5215208 DKFZp781H1715|GRF2|RAS-GRF2 protein-coding 69137 RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated) RAS guanyl nucleotide-releasing protein (RASGRP) is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. The corresponding rat gene rbc7, which lacks a 5-prime exon, represents a 5-prime and 3-prime truncated version of a larger normal rat transcript that encodes a predicted 90-kD protein. This shorter transcript has not been found in humans. 633848,1580863 9582122,17353931,17878389,17702895,17658605,17576779,17283063,17190838,15829980,14583629,12845332,12477932,11257115,10087292,9789079 633848 10125 NM_005739,AC116158,AC124306,CH471125,AB208848,AF081195,AF081197,AF106071,AY634315,AY858556,AY954625,AY966005,BC032849,BC067298,BC109296,BC109297 NP_005730,EAW92372,BAD92085,AAC79699,AAF21898,AAC97349,AAT47482,AAW32406,AAX54699,AAX76907,AAH67298,AAI09297,AAI09298,O95267 Hs.591127 GDB:9955275 CALDAG-GEFI|CALDAG-GEFII|MGC129998|MGC129999|RASGRP|V|hRasGRP1 ras guanyl releasing protein 1 protein-coding 1323188 RASGRP2 RAS guanyl releasing protein 2 (calcium and DAG-regulated) The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. 633848,1580863 16344560,14702343,14702039,12477932,12239348,11503142,11292831,10918068,9789079,9341881 633848 10235 NM_153819,NM_001098670,NM_001098671,NG_007574,AP001462,CH471076,CQ979233,AF043722,AF043723,AF081194,AK092852,AK092882,AK122694,AK124023,BC110306,BC117151,CR601768,DA286186,DB498812,U78170,Y12336 NP_722541,NP_001092140,NP_001092141,EAW74281,EAW74282,EAW74283,CAI45372,AAF07219,AAF07220,AAC79698,AAI10307,AAI17152,AAD12741,CAA73005,Q2YDB1,Q7LDG7 Hs.99491 GDB:9955786 CALDAG-GEFI|CDC25L protein-coding 1312152 RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM] 10934204,17012239,16381901,15657177,15572660,15545601,15489336,15489334,15213298,14702039,12730099,12477932,11230166,11221888,11076863,10048485,17353931 25780 NM_170672,AC020594,CH471053,AB020653,AK125551,AK292983,BC027849,BX647990 NP_733772,AAY15037,EAX00432,EAX00433,EAX00434,BAA74869,BAF85672,AAH27849,Q53SD7,Q8IV61,CAL37457 Hs.143674 GRP3|KIAA0846 protein-coding 733193 RASGRP4 RAS guanyl releasing protein 4 The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. 1580863 11880369,18024961,14702039,12493770,12477932,11956218 115727 NM_170604,AC005789,AC011469,AC093076,CH471126,AF448437,AK097292,AY048119,AY048120,AY048121,BC142721,BC146669,BC150202,BC151216,BQ028385 NP_733749,EAW56794,AAL87858,BAC04992,AAK85701,AAK85702,AAK85703,AAI46670,AAI50203,Q8TDF6 Hs.130434 GDB:11510198 protein-coding 1313233 RASIP1 Ras interacting protein 1 737633 15489334,15031288,14702039,12477932 737633 54922 NM_017805,AC008888,AC009002,CH471177,AK000408,AK123179,AY378097,BC021860,BC028614,BC042111,BX389914,CR608210 NP_060275,EAW52393,EAW52394,BAA91145,AAR24580,AAH21860,AAH28614,AAH42111,Q5U651,Q8IUR2,Q9NX72 Hs.233955 FLJ20401|RAIN protein-coding 1606572 RASL10A RAS-like, family 10, member A 8975699,17984325,15833841,15731001,15489334,12477932 10633 NM_001007279,NM_006477,AC002059,CH471095,BC022473,BC040434,BC050739,BC058077,BF436320,CR615340,Y07847 NP_001007280,NP_006468,EAW59796,EAW59797,AAH22473,AAH40434,AAH50739,AAH58077,CAA69175,Q0JVE7,Q92737 Hs.73088 RRP22 protein-coding 1322024 RASL10B RAS-like, family 10, member B 737633,1580863 17984325,17028781,15489334,14702039,12477932 737633 91608 NM_033315,AC006237,CH471147,AB047296,AK122652,BC041133,CR602996 NP_201572,EAW80132,BAB60894,AAH41133,Q96S79 Hs.437035 MGC47540|RRP17|VTS58635 protein-coding 1343885 RASL11A RAS-like, family 11, member A 15033445,12477932 387496 NM_206827,AL159977,CH471075,AY439004,BC132703,BC136761 NP_996563,CAH73746,EAX08402,AAS07577,AAI32704,AAI36762,Q6T310 Hs.192131 protein-coding 1353496 RASL11B RAS-like, family 11, member B 1580863 17628721,16189514,15033445,14702039,12477932 65997 NM_023940,AC023154,CH471057,AK027267,AY839725,AY839726,BC001087,BC001846,BC025694,BK001672,CR599114,CR605160,CR610178 NP_076429,EAX05441,BAB55008,AAX46798,AAX46799,AAH01087,AAH01846,AAH25694,DAA02135 Hs.8035 MGC2827|MGC4499 protein-coding 1314790 RASL12 RAS-like, family 12 737633,1580863 15761153,12477932,12107412 737633 51285 NM_016563,AC013553,CH471082,AF233588,BC053734,BI489884,CR598636 NP_057647,EAW77709,EAW77710,AAF60286,AAH53734,Q9NYN1 Hs.27018 RIS protein-coding 1343966 RASSF1 Ras association (RalGDS/AF-6) domain family member 1 This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Seven alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 2291977,2291979 11857081,11333291,15109305,12024041,14743218,18347058,18337602,18313166,18182852,18172292,18086755,18058812,17994635,17967182,17960617,17899687,17889669,17720308,17698033,17695396,17668224,17645803,17634119,17608924,17606310,17598981,17563743,17538946,17526942,17523078,17477876,17473182,17444856,17379520,17360030,17342751,17320110,17251440,17170014,17099724,17064406,16951144,16937357,16918136,16912161,16891396,16810318,16641997,16619251,16606445,16596198,16510573,16344548,16329043,16316825,16229803,16186793,16140931,16125301,16096369,16028839,16007340,15987713,15980887,15949439,15948711,15942659,15870267,15867363,15867337,15799820,15780049,15761971,15736067,15711568,15700308,15546880,15540210,15480433,15469871,15447998,15378022,15375503,15251938,15231747,15205320,15145946,15075335,15027117,14961576,14961078,14871978,14729613,14688019,14603253,14601057,14511407,14506151,12912945,12839968,12839965,12794755,12792742,12684417,12673680,12670917,12647816,12594816,12545168,12527916,12477932,12399230,12142046,12114441,12082624,12082623,12082610,12067994,12032847,11390984,11306494,11085536,10998413,10888881,15753381,12762840 2291977,2291979 11186 CR621674,NM_170714,NM_007182,NM_170712,NM_170713,AC002455,AC002481,CH471055,DQ444319,AF040703,AF061836,AF102770,AF102771,AF102772,AF132675,AF132676,AF132677,AF286217,AF291719,AK292638,BC110412,BC117153,BE247372,BI915594,BI966696,BM152368,BM562405,BQ072763,BT020047,BT020048,CR594387,CR594458,CR595431,CR603388,CR604275,CR605184,CR612924,CR612949,CR620030 Q0VGC6,Q17RX7,Q1W2K8,Q5TZT2,Q9NS23,NP_733832,NP_009113,NP_733830,NP_733831,AAB67312,EAW65098,EAW65099,EAW65100,EAW65101,EAW65102,ABD97859,AAC70910,AAC16001,AAF35127,AAF35128,AAF35129,AAD44174,AAD44175,AAD44176,AAG10038,AAG10064,BAF85327,AAI10413,AAI17154,AAV38850,AAV38851 Hs.476270 GDB:9957060 123F2|NORE2A|RASSF1A|RDA32|REH3P21 protein-coding 2290196 RASSF10 Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 18272789 644943 NM_001080521,AC084859 NP_001073990 Hs.693473 protein-coding 1313644 RASSF2 Ras association (RalGDS/AF-6) domain family member 2 This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. 1580863 12732644,18294275,17891178,17549418,17320110,17013898,17013896,16344560,16265349,16012945,15806169,15569673,15489334,12477932,11780052,11210185,9373149,8724849,8125298 9770 NM_170774,NM_014737,AL133354,CH471133,AK222650,AK291458,AY154470,AY154471,AY154472,BC110385,BC117118,BC117120,CR620887,CR627436,D79990,DA333367 NP_739580,NP_055552,CAC34362,EAX10445,BAD96370,BAF84147,AAN59975,AAN59976,AAN59977,AAI10386,AAI17119,AAI17121,CAH10522,BAA11485,P50749,Q8IZA5 Hs.631504 GDB:9785003 DKFZp781O1747|KIAA0168|RASFADIN ras association (ralgds/af-6) domain family 2 protein-coding 1322918 RASSF3 Ras association (RalGDS/AF-6) domain family member 3 The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM] 1580863 15569673,15489334,12477932,11965544 283349 NM_178169,AC025262,AC078962,CH471054,AY217662,AY217663,BC100949,BC100950,BC100951,BC100952 NP_835463,EAW97134,EAW97135,EAW97136,AAO61687,AAO61688,AAI00950,AAI00951,AAI00952,AAI00953,Q496A9,Q86WH2 Hs.655521 GDB:10807088 MGC119194|MGC119195|MGC119197|RASSF5 ras association (ralgds/af-6) domain family 3 protein-coding 1317179 RASSF4 Ras association (RalGDS/AF-6) domain family member 4 The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. 17373700,15574778,15489334,15375500,15164054,14702039,12477932,11748221 83937 NM_032023,AL353801,CH471160,AB209446,AF260335,AK055763,AK092770,AK097272,AL713716,AY216713,AY216714,AY216715,AY216716,BC032593,BI601296 NP_114412,CAI13062,CAI13063,CAI13064,EAW86627,EAW86628,BAD92683,AAG44666,CAD28511,AAO61138,AAO61139,AAO61140,AAO61141,AAH32593,Q59FL4,Q5T739,Q9H2L5 Hs.522895 AD037|MGC44914 protein-coding 1606212 RASSF5 Ras association (RalGDS/AF-6) domain family member 5 This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. 9488663,12845325,15109305,16892067,18211824,17716979,17320110,16757334,16713569,16710414,16606445,16520020,16516329,16421102,16352687,16344560,15980887,15569673,15489334,15378027,14702039,14667507,12676952,12477932,11978988,11965544,11864565,11857081 83593 NM_182663,BC042651,CD367770,CR596354,CR610514,DA370470,NM_182664,NM_182665,AL354681,AL591846,CH471100,AB209145,AF445801,AK056568,AK074115,AK289861,AK291268,AK292039,AL832784,AY062002,AY062003,AY216268,AY261332,BC004270,BC007203 AAH07203,AAH42651,Q59GG4,Q8TEK8,Q8WWW0,ABM83887,ABM87207,NP_872604,NP_872605,NP_872606,CAI15252,CAI15253,CAI15254,CAI15256,CAI13536,CAI13537,CAI13538,CAI13542,EAW93541,EAW93542,EAW93543,EAW93544,EAW93545,BAD92382,AAL38592,BAB84941,BAF82550,BAF83957,BAF84728,CAI46164,AAL40388,AAL40389,AAO61668,AAP83360,AAH04270 Hs.497579 MGC10823|MGC17344|Maxp1|NORE1|NORE1A|NORE1B|RAPL|RASSF3 protein-coding 1605848 RASSF6 Ras association (RalGDS/AF-6) domain family member 6 17404571,17367779,15489334,14702039,12477932 166824 AC074250,CH471057,AK002032,AK126346,AY217664,AY217665,BC058835,BU959014,CR749283,NM_201431,NM_177532 NP_803876,EAX05685,EAX05686,BAC86530,AAO61689,AAO61690,AAH58835,NP_958834,CAH18138,Q6ZTQ3 Hs.590920 DKFZp686K23225 protein-coding 1314751 RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 12812986,18272789,16730941,15489334,15098441,12477932,1339391 8045 NM_003475,AP006284,CH471158,BC106921,BC106922,CR591016,CR595567,CR604720,CR611851,CR612580,CR613045,CR618937,CR623626,M91083 NP_003466,EAX02348,EAX02349,EAX02350,EAX02351,AAI06922,AAI06923,AAA58667,Q02833,Q3KP41,ABZ92268 Hs.72925 GDB:9954464 C11orf13|HRAS1|HRC1|MGC126069|MGC126070 chromosome 11 open reading frame 13 protein-coding 1318811 RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 17194498,16462760,16189514,15489334,15324660,12477932,11836357,10951517 11228 AC055707,CH471094,AB093206,AK290055,AK292333,AY665468,AY665469,AY665470,AY665471,BC030021,CR456905,U82396,NM_007211 Q6IB99,Q8NHQ8,NP_009142,EAW96522,EAW96523,EAW96524,EAW96525,BAC98838,BAF82744,BAF85022,AAV54603,AAV54604,AAV54605,AAV54606,AAH30021,CAG33186,AAC95425,Q5SCI0 Hs.696433 GDB:9957473 C12orf2|HoJ-1 chromosome 12 open reading frame 2 protein-coding 731307 RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. 633607,1580863 9837933,18272789,14702039,12477932 633607 9182 NM_005447,AC016993,AC137768,CH471054,AF056209,AK022089,BC031589 NP_005438,EAW97399,AAD03250,AAH31589,O75901,ABM81713,ABM84869 Hs.527881 GDB:11501073 P-CIP1|PAMCI protein-coding 1603914 RAVER1 ribonucleoprotein, PTB-binding 1 17931803,17081983,16964243,15489334,15302935,12477932,11853319,11724819 125950 NM_133452,AC011511,AC114271,AB075858,BC037428,BC037565,BX401103,CR590285,CR597964,CR746909,DB446023 NP_597709,BAB85564,AAH37428,AAH37565,Q8IY67 Hs.654865 KIAA1978 protein-coding 1602482 RAVER2 ribonucleoprotein, PTB-binding 2 16051233,15489334,14702039,12477932,10997877 55225 NM_018211,AC093427,AC099678,CH471059,AB046799,AK001632,AK058029,AL359613,BC065303,CR603062 NP_060681,EAX06549,EAX06550,BAB13405,BAA91798,CAB94883,AAH65303,Q9HCJ3,Q9NVF4 Hs.591443 DKFZp762D1011|FLJ10770|KIAA1579 protein-coding 1606797 RAX retina and anterior neural fold homeobox 10625658,14662654,12477932,11069920,10766016,9177348 30062 NM_013435,AC067859,CH471096,AF115392,BC051901 NP_038463,EAW63093,AAD23438,AAH51901,Q86V11,Q9Y2V3,AAI56202,AAI57123 Hs.278957 GDB:11508459 MCOP3|RX protein-coding 1606205 RAX2 retina and anterior neural fold homeobox 2 This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. 15028672,12477932 84839 NM_032753,AC005777,CH471139,AY211277,BC007284,BC018709,BC032512 NP_116142,EAW69288,AAP41547,AAH07284,AAH18709,AAH32512,Q96IS3 Hs.532691 ARMD6|CORD11|MGC15631|QRX|RAXL1 protein-coding 731712 RB1 retinoblastoma 1 (including osteosarcoma) The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. 1580863,2291991 17616526,17609271,17597480,17576813,17557897,17549378,17523078,17511743,17495525,17490733,17461478,17455244,17428253,17413032,17390023,17380128,17369843,17369289,17332242,17318405,17299438,17297463,17286450,17216555,17182682,17163992,17160137,17145812,17131485,17094467,17047088,17043357,17031475,17028578,17012228,16984923,16966377,16948516,15572661,16286473,3413073,7542657,16936805,16935576,16916716,16912184,16880741,16824683,16816134,16764854,16698799,16685266,16682285,16682076,16619045,16616093,16614728,16595082,16570290,16464825,16458891,16388084,16374512,16368535,16360038,16354195,16352731,16343421,16332962,16315642,16303160,16273238,16269091,16254459,16212876,16205627,16188218,16186801,16127685,16042572,16020958,15949438,15939381,15927959,15884040,15881662,15878620,15838894,15837424,15827088,15811853,15809752,15803180,15776430,15767262,15763650,15763542,15752352,15741232,15735701,15731778,15716956,15709169,15701640,9395244,9448006,9858607,11073990,3657987,10825186,9491888,9190208,11931757,14527418,18431743,18321963,18306932,18305152,18296270,18294958,18281541,18262051,18216119,18196971,18181215,18073205,18000883,17996702,17991896,17977825,17974914,17960112,17916908,17913805,17913706,17900658,17880527,17877762,17804741,17716930,17704056,17702869,17695524,17686574,17671693,17652530,17642181,17640669,17616676,11960384,11956626,11940667,11909966,11896613,11847125,11832063,11805327,11788883,11748221,11668642,11596110,11583618,11571652,11571651,11568901,11566021,11533237,11524739,11500496,11484059,11433299,11420704,11268000,11254678,11113200,11094070,11085541,11073989,11042686,11034201,10944455,10888886,10869426,10866689,10850422,10783144,12016586,11971966,15679863,15674338,15671551,15655836,15647840,15647383,15640164,15583032,15580311,15577944,15564485,15547691,15538385,15523694,15502804,15492985,15489336,15489334,15485920,15485814,15469821,15469703,15467457,15389598,15389561,15381253,15367658,15367600,15308640,15306814,15264269,15210709,15199152,15193257,15169919,15162822,15161658,15105429,15084261,15057823,15048095,15044952,14966529,14871261,14737116,14732703,14730602,14729647,14722923,14693709,14684825,14681231,14676836,14645241,14631100,14627988,15684604,14625809,14585976,14534726,14533007,14519639,14506250,12963997,12947005,12944478,12891711,12860972,12845674,12809602,12761493,12757710,12682072,12629508,12621062,12594215,12588990,12569181,12556968,12532471,12532331,12528819,12508351,12507935,12502741,12499093,12479814,12477932,12475961,12466551,12461781,12459729,12450794,12439743,12419581,12401721,12397079,12391839,12391156,12377414,12374284,12362308,12210730,12200151,12197776,12173465,12153616,12145697,12140374,12096344,12085226,12054658,12037672,12036888,12032846,12021356,10779342,10748174,10721693,10702291,10671068,10647931,10490602,10486249,10446990,10409732,10393912,10376528,10330166,10321733,10220405,10207050,10197586,10196196,10082561,10078201,10026157,10022926,9973307,9819434,9721205,9712901,9710587,9697699,9675141,9632747,9566959,9566894,9559293,9545246,9525916,9501179,9495340,9468140,9468139,9380698,9315663,9315635,9312071,9311732,9258347,9256431,9242374,9178770,9169441,9145110,9140452,9139732,9125176,9010216,9003781,8946919,8870681,8832394,8776589,8756626,8756624,8657117,8626527,8605116,8493578,8490963,8490568,8475068,8434021,8381715,8346255,8278403,8242749,8230483,8217609,8170997,8152792,8058329,7935440,7927327,7923370,7902321,7881418,7838535,7828850,7795591,7791904,7777526,7739537,7732011,7724524,7704558,7673249,11684023,10779361,10615135,9724731,11997511,11350943,10938106,11521194,10518542,12711675,7890747,9071815,9813067,15806172,15674331,11447271,10339564,8246996,15619620,15271987,9632788,8560263,8816798,8816797,8662825,15735762,7629134,15479636,1638634,11126356,9343168,15241418,8346196,7664264,7592647,7558034,7538672,7525595,7503932,7287000,3823889,3653883,3480530,2839300,2717184,2701949,2594029,1857421,1756735,1641004,1532458,1388726,1352883,1352398,15103018,15093750,9453249,12241561,16189514,11358960,11470869,10734134,11285237,12466959 2291991 5925 L41910,L41912,L41913,L41914,L41997,L49225,L49231,L49232,M27866,X16439,AB208788,AF043224,AK291258,AY429568,BC039060,BC040540,L41870,M15400,M19701,M28419,M33647,L41909,AF551763,AL136960,AL392048,AY124936,AY243567,AY260472,AY643840,CH471075,L11910,L41890,L41891,L41893,L41894,L41895,L41896,L41897,L41898,L41899,L41904,L41908,NM_000321 AAA65745,AAA65746,AAA65747,AAA65748,AAA65749,AAB59482,AAA82563,AAA82557,AAA82558,AAA53484,CAA34462,BAD92025,AAC26845,BAF83947,AAH39060,AAH40540,AAB59465,AAA69807,AAA60259,AAA69808,AAA69806,P06400,P78495,NP_000312,AAN64133,AAN41646,AAO62758,AAP39867,AAT66036,EAX08793,EAX08794,AAA53483,AAA65735,AAA65736,AAA65737,AAA65738,AAA65739,AAA65740,AAA65741,AAB59471,AAB59473,AAB59580,AAA65744,Q59HH0,Q6DUF0,Q6LE65,Q6LE77,Q6LE79,Q6LE80,Q6LE81,Q6LE82,Q7KZ60,Q7KZ61,Q7Z5Q6,Q7Z7J0,Q86WG4,Q92728,ABM82490,ABM85678 Hs.408528 GDB:118734 OSRC|RB|p105-Rb|pRb|pp110 retinoblastoma 1 protein-coding 1319644 RB1CC1 RB1-inducible coiled-coil 1 1599411,1580863 17353931,18285457,18036779,17707572,17706618,17081983,16865226,16344560,16061648,16043512,15968549,15489334,15375585,14533007,12477932,12221124,12163359,12095676,12068296,11850849,10769033,9039502,7724523 1599411 9821 NM_014781,NM_001083617,AC090814,AC113139,CH471068,AB059622,AK291699,AY173931,BC017556,BC032074,D86958,DA326842,Z35085 NP_055596,NP_001077086,EAW86719,EAW86720,EAW86721,BAB69690,BAF84388,AAO17545,AAH17556,BAA13194,Q86YR4,Q8TDY2,ABM83328 Hs.196102 GDB:9785171 CC1|DRAGOU14|FIP200 protein-coding 1602691 RBAK RB-associated KRAB zinc finger This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. 10702291,18307725,17121540,16344560,14702039,14664718,12070015 57786 NM_021163,AC092032,CH471144,AK093275,AK293069,AL711327,CD238907,DB363461 NP_066986,AAQ93364,EAW87321,BAF85758,Q9NYW8 Hs.396178 ZNF769 protein-coding 1323349 RBBP4 retinoblastoma binding protein 4 This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. 1580863 14609955,9150135,17353931,8350924,17974974,17616526,17244783,16429158,15701600,15635413,15489334,15456747,15451426,15225548,14966907,14645126,12943729,12920132,12893285,12705869,12670868,12628926,12493763,12477932,12435631,12430566,12351676,12124384,12091390,11788710,11784859,11777905,11470869,11331609,11302704,11118440,11102443,11013263,10961924,10866654,10819992,10734134,10471500,10471499,10444591,10220405,10220385,9804427,9790534,9651585,9614144,9520398,9427644,9373149,8858152,8602529,8125298,7503932,1699755,1286667,11756549,16189514 5928 CR611583,X71810,X74262,NM_005610,AC114489,CH471059,CQ887963,AK222779,BC003092,BC015123,BC053904,BC075836,BT007309,CR600272 CAA50685,CAA52321,Q09028,ABM83425,ABM86638,NP_005601,EAX07513,EAX07514,EAX07515,CAH61602,BAD96499,AAH03092,AAH15123,AAH53904,AAH75836,AAP35973 Hs.647652 GDB:217042 NURF55|RBAP48 protein-coding 1313612 RBBP5 retinoblastoma binding protein 5 The protein encoded by this gene is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. 1580863 17041588,14992727,15199122,17081983,16604156,12482968,12477932,11337467,8889549,7558034,15960975 5929 NM_005057,AC093422,AL583832,CH471067,AA235403,AK290137,AU099032,BC037284,BC053856,BC075059,BC075060,BG392257,CB133829,CD710496,X85134 NP_005048,EAW91536,EAW91537,EAW91538,EAW91539,BAF82826,AAH37284,AAH53856,AAH75059,AAH75060,CAA59446,Q15291,Q7Z6D8,Q8NDZ7,ABM82131,ABM85314 Hs.519230 GDB:579579 RBQ3|SWD1 protein-coding 1323690 RBBP6 retinoblastoma binding protein 6 The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. 1580863 8595913,17081983,16964243,16396680,15617101,15489334,15475430,15302935,15231748,14702039,12477932,12064457,9010216 5930 BC101140,BC101141,BC101142,BC114353,BC114354,BC118667,BC139830,BF727303,BI489954,BM314442,BX648661,CB529116,CD638608,X85133,NM_006910,NM_018703,NM_032626,AC010321,BX538187,CH471145,AB112074,AB112075,AF063596,AF116625,AF352051,AK023612,AK026954,AL359564,AY072922,BC015318,BC029352,BC029649,BC030964,BC051317,BC063524,BC073938,BC101139 AAI01141,AAI01142,AAI01143,AAI14354,AAI14355,AAI18668,AAI39831,CAA59445,Q147T5,Q7Z6E9,Q96BR4,Q9P1K4,NP_008841,NP_061173,NP_116015,EAW55789,EAW55790,EAW55791,EAW55792,BAC77636,BAC77637,AAG43155,AAF71048,AAL05625,BAB15600,CAB94869,AAL68925,AAH15318,AAH29352,AAH51317,AAH63524,AAH73938,AAI01140 Hs.188553 GDB:626076 DKFZp686P0638|DKFZp761B2423|MY038|P2P-R|PACT|RBQ-1|SNAMA protein-coding 732412 RBBP7 retinoblastoma binding protein 7 This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. 1580863 9150135,7503932,17314274,16916647,15635413,15456747,15451426,15016378,14981905,14702039,14666671,14645126,14609955,12920132,12705869,12670868,12493763,12477932,12435631,12124384,11788710,11784859,11118440,11102443,10866654,10471500,10444591,10220405,9804427,9790534,9765217,9651585,9427644,2005966,10471499,11746496,11394910,11756549 5931 NM_002893,AL929302,CH471074,AK091911,AK127332,AK291567,BC114500,BC114501,CR541701,CR592155,CR596205,CR611848,CR615058,CR620066,CR624515,U35143,X72841 Q5JNZ6,Q5JNZ9,Q5JP00,Q5JP02,Q6FHQ0,Q16576,NP_002884,CAI41280,CAI41281,CAI41282,CAI41283,CAI41284,CAQ07342,EAW98919,EAW98920,EAW98921,BAF84256,AAI14501,AAI14502,CAG46502,AAC50231,CAA51360 Hs.495755 GDB:9834034 MGC138867|MGC138868|RbAp46 protein-coding 1317354 RBBP8 retinoblastoma binding protein 8 The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. 1580863 12477932,12015313,11959865,11751867,11689934,11427533,11313276,10918303,10910365,10449734,10196224,9811458,9738006,9721205,9535825,8076819,12925972,14654780,15084581,10779361,10608806,14578343,11090615,10783144,17525340,10764811,18171986,18171670,18007598,17965729,17546052,17112672,16581787,16287852,16189514,15302935 5932 NM_002894,NM_203292,NM_203291,AC091147,AC106033,CH471088,AF043431,AK292481,BC001170,BC030590,BG723261,BU187672,BX648221,U72066 NP_002885,NP_976037,NP_976036,EAX01143,EAX01144,EAX01145,EAX01146,AAC34368,BAF85170,AAH30590,AAC14371,Q8NHQ3,Q99708,ABM81882,ABM85045 Hs.546282 GDB:9834668 CTIP|RIM protein-coding 1349258 RBBP9 retinoblastoma binding protein 9 The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. 69955,1580863 15489334,14702039,12730717,12477932,12296629,11780052,10449909,9697699,16189514 69955 10741 NM_006606,AL121893,CH471133,AF039564,AF237576,AK023897,AL832411,BC015938,BC020627,BC026880 NP_006597,CAC11112,EAX10236,EAX10237,EAX10238,AAC63498,AAL83721,CAI46193,AAH15938,AAH26880,O75884,Q5JPH9,Q8TBQ3,ABZ92296 Hs.69330 GDB:9864739 BOG|MGC9236|RBBP10 protein-coding 731853 RBCK1 RanBP-type and C3HC4-type zinc finger containing 1 The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. 17822790,17449468,16643902,16083853,15951569,15833741,15489334,14759258,12629548,12477932,11780052,10431818 10616 NM_031229,NM_006462,AL121747,CH471133,AB107766,BC000983,BC014116,BC015219,BC016301,CR608145,CR625598,U67322 NP_112506,NP_006453,CAC17516,CAC28312,CAI23017,CAI23018,EAX10673,EAX10675,BAC75409,AAH00983,AAH15219,AAD00162,Q5JWR1,Q5JWR2,Q86SL2,Q9BYM8 Hs.247280 GDB:9958028 C20orf18|HOIL1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4 protein kinase c-binding protein beta15 protein-coding 1353080 RBED1 RNA binding motif and ELMO/CED-12 domain 1 737633,1580863 15815621,15498874,15489334,14702039,12477932 737633 84173 NM_032213,AC062037,CH471053,AF258573,AK025630,AK092920,AL713718,BC001942,BC010991,BC018666,BC054504,BC112324,DQ256726,DQ256727 NP_115589,AAY24127,EAW99521,EAW99522,EAW99523,EAW99524,EAW99525,EAW99526,EAW99527,EAW99528,EAW99529,AAG23776,BAB15195,BAC04003,CAD28512,AAH01942,AAH10991,AAH18666,AAI12325,ABB69067,ABB69068,Q96FG2 Hs.269990 ELMOD3|FLJ21977|FLJ35601|MGC111036|RBM29 rna binding motif and elmo domain 1 protein-coding 1602712 RBJ rab and DnaJ domain containing 14980719,12477932,9564038 51277 NM_016544,AC012073,AC013267,CH471053,AF178983,AL117490,AL137731,AY094594,BC034049,BK001284 NP_057628,AAY14788,AAX93052,EAX00735,EAX00736,EAX00737,EAX00738,AAF44347,CAI46214,AAM22521,AAH34049,DAA01323,Q53T06,Q53T53,Q9NZQ0 Hs.434993 DKFZp434N211|RabJS protein-coding 1320751 RBKS ribokinase The ribokinase encoded by this gene belongs to the pfkB family of carbohydrate kinases. It phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. 737633,1580863 17585908,15489334,12477932,8382990 737633 64080 NM_022128,AC021171,AC110084,CH471053,AJ404857,AY643715,BC017425,BX648909,CR609030 NP_071411,AAY24155,EAX00550,EAX00551,CAC12877,AAT64917,AAH17425,Q53SD1,Q9H477 Hs.11916 DKFZp686G13268|RBSK protein-coding 1313374 RBL1 retinoblastoma-like 1 (p107) The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16286473,18086563,17563750,16943418,16537896,16189514,16135806,15939381,15827088,15631990,15489334,15467457,14671316,14666683,12947099,12621062,12588981,12477932,12466551,12450794,12439743,12150994,12096339,12006580,11884610,11780052,11642725,11573202,11571651,11313936,11034201,10863094,10540350,10376528,10330166,10082561,10022926,9927208,9747874,9724731,9721205,9710587,9697699,9566894,9501179,9372959,9242374,8643455,8622916,8319904,8230483,8076603,7958925,7958924,7935440,7892279,7791762,7565695,1833063,1532458,11521194,15716956,15479636,10766737,11799066,8816797,15735762 5933 NM_002895,NM_183404,AL136172,AL365505,AL391114,CH471077,S78664,AK290380,BC017557,BC032247,CB115117,L14812,M74547 NP_002886,NP_899662,CAI95716,CAI95717,EAW76088,EAW76089,AAD14290,BAF83069,AAH17557,AAH32247,AAA02489,AAA36397,P28749,Q8WVU8,ABM92229,ABM84709 Hs.207745,Hs.617220 GDB:226502 CP107|MGC40006|PRB1|p107 protein-coding 733260 RBL2 retinoblastoma-like 2 (p130) 1580863 10330166,10022926,9819434,9747874,9724731,9721205,9710587,9697699,9566894,9242374,9188854,9178770,8643454,8361765,8253384,8253383,8247552,7760804,15103018,10490602,9891079,11521194,15861133,15479636,15161709,15131049,15059924,14671316,14587097,14534545,13679860,12968030,12915404,12789260,12789259,12637156,12621062,12588981,12477932,12474056,12466551,12450794,12435635,12386819,12196924,12006580,11959842,11756542,11642725,11573202,11319226,11157749,11042701,11042686,11034201,10969803,10449734,10376528,16286473,18321970,18086563,17905135,17694957,17531812,17485552,16936755,16936753,16760287,16600870,16537896,16458891,16364039,16344560,16135806,15949438,15939381,15827088,15696973,15467457,15231644,15577944,11799066,10766737,15271987,7892279,15735762 5934 NM_005611,AC007342,CH471092,U53220,AK129969,BC034490,BX537767,CR608692,DB017942,S67171,X74594,X76061 NP_005602,EAW82801,EAW82802,AAC50479,AAH34490,CAD97830,AAB29227,CAA52671,CAA53661,Q08999,Q7Z3L2,Q8NE70 Hs.513609 GDB:269890 FLJ26459|P130|Rb2 retinoblastoma-like 2 protein-coding 732878 RBM10 RNA binding motif protein 10 The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs. In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene cluster on chromosome Xp11.23, and its 3' end lies within 20 kb upstream of UBE1. Two transcript variants encoding different isoforms have been identified for this gene. 1580863 17081983,16713569,16552754,16381901,16189514,15489336,15345747,15302935,14702039,14559993,12477932,11944989,11230166,11076863,9373149,8808293,8760884,8590280,8125298 8241 NM_152856,NM_005676,AL513366,CH471164,BC008733,BC024153,BX537969,CR612855,CR613830,CR616597,D50912,U35373,AK000962,AK024839,AK025854,AK225175,AK292758,AL137421,BC000681,BC003089,BC004181 NP_690595,NP_005667,CAI41700,CAI41701,AAH08733,AAH24153,CAD97933,BAA09471,AAB33572,P98175,EAW59283,EAW59284,EAW59285,EAW59286,EAW59287,BAA91445,BAF85447,CAB70731,AAH00681,AAH03089,AAH04181,Q6PKH5,Q7Z3D7,Q9BTE4,Q9BTX0,Q9NTB1,Q9NWD7,CAL37951,Q5JRR2 Hs.401509 GDB:9784790 DXS8237E|GPATC9|GPATCH9|KIAA0122|MGC1132|MGC997|ZRANB5 protein-coding 1313079 RBM11 RNA binding motif protein 11 1580863 16713569,16189514,15489334,14702039,12477932,12036298,10830953,8889548 54033 NM_144770,AF130358,AP001660,CH471079,AF519623,AK091331,AY077695,BC030196,BQ186146,CB153254 NP_658983,BAA95545,EAX10060,EAX10061,EAX10062,EAX10063,AAM75350,BAC03638,AAL82535,AAH30196,P57052 Hs.283828 GDB:10796414 protein-coding 1343633 RBM12 RNA binding motif protein 12 This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in two transcript variants. Both variants encode the same protein. 1580863 16120600,17081983,15489334,15144186,14702039,12477932,12421765,12168954,11780052,11435693,9872452,9853615 10137 NM_006047,NM_152838,AF345335,AL109827,CH471077,AA481034,AB015336,AB018308,AF345332,AF393214,AI086083,AI376995,AJ289772,AK026963,AK074945,AK092239,AL833222,AL834472,BC012787,BC013981,CD109659,CR624522 NP_006038,NP_690051,AAL83755,CAB87611,CAI20134,EAW76182,EAW76184,EAW76188,BAA34794,BAA34485,AAL83752,AAM73682,CAC20441,CAH10603,CAD39131,AAH12787,AAH13981,Q5JX62,Q69YJ7,Q9NTZ6,ABM84419,ABM87436 Hs.246413 GDB:10796620 HRIHFB2091|KIAA0765|SWAN protein-coding 1602033 RBM12B RNA binding motif protein 12B 17081983,15489334,12477932 389677 NM_203390,AC010834,CH471060,BC039260 NP_976324,EAW91699,AAH39260,Q8IXT5 Hs.192788 MGC:33837 protein-coding 1350635 RBM13 RNA binding motif protein 13 17081983,15635413,15489334,14702039,12477932,12429849,11790298,9373149,8125298 84549 NM_032509,AC091144,CH471080,CS300754,AF251062,AK027469,AK225476,AL049422,BC015965,BC028230,BC039740,BC050528 NP_115898,EAW63400,CAK32418,AAK34952,BAB55134,AAH15965,AAH28230,AAH39740,AAH50528,Q9BXY0 Hs.583805 GDB:10797030 MAK16|MAK16L protein-coding 1321805 RBM14 RNA binding motif protein 14 11443112,17337438,17081983,16964243,16878147,16713569,16565220,16227627,15489334,15302935,15144186,14702039,12477932,11790298,9373149,9285794,8125298,16189514 10432 NM_006328,AP001157,AB209007,AF080561,AF315632,AF315633,AK021768,AK222830,BC000488,BC023619,DQ294957,CH471076 NP_006319,EAW74552,EAW74553,BAD92244,AAC64058,AAK77961,AAK77962,BAD96550,AAH00488,ABB99396,Q2PYN1,Q59GV2,Q96PK6,ABZ92033 Hs.705604 GDB:9956990 COAA|DKFZp779J0927|SIP|SYTIP1 protein-coding 1343999 RBM15 RNA binding motif protein 15 1580863 17081983,17001072,16964243,16710414,15849773,15489334,15302935,14702039,12477932,11431691,11344311 64783 NM_022768,AJ297259,AL355488,CH471122,AB209680,AF364035,AF368062,AF368063,AF368064,AK022541,AK025596,AW173262,BC000841,BC006397,BC010891,BC042587,BC047479,BC062316,BC098140,BC103493,BC103507,BC103660,BK005915 NP_073605,CAC38861,CAC38862,CAI19077,EAW56438,EAW56439,EAW56440,EAW56441,BAD92917,AAK54722,AAK54723,AAK54724,BAB14088,BAB15185,AAH06397,AAH47479,AAH62316,AAH98140,AAI03494,AAI03508,AAI03661,DAA05818,Q3ZAU1,Q3ZB86,Q4V760,Q59EY1,Q86VW9,Q96T37 Hs.435947,Hs.654688,Hs.708172 GDB:11498137 FLJ12479|FLJ21943|MGC119584|OTT|OTT1|SPEN protein-coding 1350628 RBM15B RNA binding motif protein 15B 737633,1580863 17081983,16129689,15489334,15302935,12477932,8401585 737633 29890 BC121184,BC139836,BG674080,BI465048,CR610328,L13434,NM_013286,AC092037,CH471055,AA369886,AL831838,AY545557,BC001367 AAH01367,AAI21185,AAI39837,AAA72367,Q0VA89,Q8NDT2,NP_037418,EAW65139,CAD38547,AAS50153 Hs.118738,Hs.476291 HUMAGCGB|OTT3 protein-coding 1342919 RBM16 RNA binding motif protein 16 1580863 17081983,15302935,14702039,14574404,12477932,10470851,8889548 22828 AL121952,AL136976,AL591499,CH471051,AB029039,AK001530,AK023859,AL833928,BC032728,BC070071,BM976977,NM_014892 NP_055707,CAI21474,CAI21482,CAH70694,EAW47696,EAW47697,BAA83068,BAB14705,CAD38784,AAH32728,AAH70071,Q05BU5,Q6NSK3,Q8NDE9,Q9H8B2,Q9UPN6 Hs.591329 KIAA1116 protein-coding 1322546 RBM17 RNA binding motif protein 17 737633,1580863 17676041,17589525,17154718,17081983,16189514,16061639,15489334,14578179,12477932,12086596,12015979,9731529 737633 84991 NM_032905,AL157395,CH471072,AF542550,BC007871,BC009064,BC039322,CR590836,CR592385,CR592607,CR595515,CR600086,CR612416,CR626154 NP_116294,CAH73599,CAH73600,CAH73601,CAH73602,CAH73603,EAW86405,EAW86406,EAW86407,EAW86408,EAW86409,EAW86410,EAW86411,AAQ09533,AAH07871,AAH09064,AAH39322,Q5W009,Q5W010,Q5W011,Q5W012,Q96I25 Hs.498548 MGC14439|SPF45 protein-coding 1316593 RBM18 RNA binding motif protein 18 737633,1580863 15489334,15164053,14702039,12477932 737633 92400 NM_033117,AL162424,CH471090,AK057676,AL389986,BC008942,BC019319,CR607872,CR618261 NP_149108,CAI14706,EAW87518,EAW87519,AAH08942,AAH19319,Q96H35 Hs.415842 MGC2734|RP11-498E2.2 protein-coding 1318980 RBM19 RNA binding motif protein 19 1580863 17081983,15635413,15489334,15231748,12874115,12477932,12429849,11790298,11230166,9734811 9904 NM_016196,XM_001134334,AC009731,AC073863,AC090669,CH471054,AB014582,AL117547,BC004289,BC006137 NP_057280,XP_001134334,EAW98062,EAW98063,BAA31657,CAB55987,AAH04289,AAH06137,Q9Y4C8 Hs.7482 DKFZp586F1023|KIAA0682|NPO protein-coding 1316618 RBM20 RNA binding motif protein 20 282996 XM_291671,XM_001716119,XM_939337,AL136368,AL359260,AL512508,AL832084,BX648563 XP_291671,XP_001716171,XP_944430,CAI40091,CAI40093,CAI16577,Q5JVI5,Q5T481 Hs.116630 protein-coding 1314003 RBM22 RNA binding motif protein 22 737633,1580863 17045351,15489336,15489334,14702039,12477932,11991638,11256614,11230166,11076863,8681136,11278427,16381901 737633 55696 NM_018047,AC008453,CH471062,AK001152,AK096728,AL136933,BC003402,CR594318,CR612187 NP_060517,EAW61710,EAW61711,EAW61712,BAA91521,CAB66867,AAH03402,Q9NW64,CAL38515 FLJ10290|ZC3H16 protein-coding 1349605 RBM22P1 RNA binding motif protein 22 pseudogene 1 406880 1352302 RBM23 RNA binding motif protein 23 This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 17081983,16169070,15694343,15498874,15489334,14702039,12508121,12477932,9373149,8125298 55147 NM_001077352,NM_018107,NM_001077351,AL132780,AL135998,CH471078,AF087905,AF275678,AK001344,AK125593,AK225792,AL834198,BC002566,BC024208,BC106012,BX161440,CK000110,CK003276,CR457257,CR594554,CR595426,CR596824,CR597624,CR602590,CR612023,CR623387 NP_001070820,NP_060577,NP_001070819,EAW66222,EAW66223,EAW66224,EAW66225,EAW66226,EAW66227,EAW66228,EAW66229,EAW66230,AAP97203,AAG24388,BAA91638,CAD38887,AAH02566,AAH24208,CAD61910,CAG33538,Q6IA98,Q86U06 Hs.4997 CAPERbeta|FLJ10482|MGC4458|PP239|RNPC4 protein-coding 1317276 RBM24 RNA binding motif protein 24 16713569,15489334,14702039,14574404,12477932 221662 NM_153020,AL136305,CH471087,AK055391,AK095016,AK129865,AK293052,AL832199,AL833156,AY547318,BC018674,BC040928,BC065748,BC104808,BC104810 NP_694565,CAC36889,CAI19958,EAW55378,EAW55379,BAB70914,BAC04474,BAF85741,AAS55633,AAI04809,AAI04811,Q9BX46 Hs.519904 FLJ26355|FLJ30829|FLJ37697|RNPC6|dJ259A10.1 protein-coding 1318710 RBM25 RNA binding motif protein 25 1302519,1580863 17560998,17081983,16964243,15561718,15302935,14702039,12508121,12477932,9847074,8227983,7596406,17353931 1302519 58517 BC136776,BX647116,CR608971,L40392,S67071,NM_021239,AC004858,AF109907,AL442663,CH471061,AK026107,AK094697,AK125513,AL832314,AL833497,BC033664,BC062440,BC083496,BC111066,BC113389,BC113391,BC136775 AAI36777,AAC41999,AAB28817,P49756,Q16083,Q2TA72,Q5XJ17,Q6P665,Q9H6A1,AAI36776,NP_067062,AAF19255,AAC97961,EAW81086,EAW81087,EAW81088,EAW81089,EAW81090,BAB15362,AAH62440,AAH83496,AAI11067,AAI13390,AAI13392 Hs.531106 MGC105088|MGC117168|RED120|RNPC7|S164 protein-coding 1317989 RBM26 RNA binding motif protein 26 17081983,16964243,15741184,15489334,15057823,14702039,12477932,11149944 64062 NM_022118,AL139006,AL159974,CH471093,AF273052,AK024610,AK027339,AK027456,AL834343,BC000791,BC030806,BC041655,BC065024,BC111739,BX648672,BC111697 NP_071401,CAI12921,CAI12923,EAW80591,EAW80592,EAW80593,EAW80594,AAG34912,BAB14933,BAB55046,BAB55125,CAD39009,AAH00791,AAH41655,AAI11698,AAI11740,CAI56708,Q5T8P6,Q7L643 Hs.706788 ARRS2|C13orf10|FLJ20957|MGC133295|MGC133296|PRO1777|RP11-255E21.1|SE70-2|ZC3H17 chromosome 13 open reading frame 10 protein-coding 1323694 RBM27 RNA binding motif protein 27 1580863 16964243,15741184,15489334,15372022,14702039,12477932,10718198 54439 XM_001723897,XM_001720239,XM_001723796,NM_018989,AC011356,AC091959,AB037732,AK026358,AK074316,AK128738,AL833706,BC009537,BC029648,BC033524,BX647384 XP_001723949,XP_001720291,XP_001723848,NP_061862,BAA92549,AAH09537,AAH33524,Q05DK9,Q9P2N5 Hs.61441 ARRS1|KIAA1311|Psc1 protein-coding 1322736 RBM28 RNA binding motif protein 28 17081119,16344560,15635413,15489334,14702039,12477932,12429849,11790298,9373149,8889548,8125298 55131 NM_018077,AC010655,AC018635,CH236947,CH471070,AK001239,AK222716,BC013889,BU609187,CR594156,CR596407,DA566130 NP_060547,EAL24314,EAW83643,EAW83644,BAA91575,BAD96436,AAH13889,Q53H65,Q9NW13 Hs.274263 FLJ10377 protein-coding 1350280 RBM3 RNA binding motif (RNP1, RRM) protein 3 This gene is a member of the glycine-rich RNA-binding protein family and encodes a protein with one RNA recognition motif (RRM) domain. Expression of this gene is induced by cold shock and low oxygen tension. A pseudogene exists on chromosome 1. Multiple alternatively spliced transcript variants that are predicted to encode different isoforms have been characterized although some of these variants fit nonsense-mediated decay (NMD) criteria. 1580863 8634703,16552754,15782174,15772651,15635413,15489334,15144186,15075239,12824175,12477932,9245737,16189514,15518812 5935 AC115618,NM_006743,CH471224,AA460548,AK000859,AK026664,AY203954,BC006825,BI523929,BQ429805,BX647914,CD559009,CR589973,CR591107,CR597294,CR601924,CR602242,CR604888,CR615516,CR615558,CR615647,CR618991,CR620824,CR621948,CR622284,CR626059 NP_006734,EAW50765,EAW50766,EAW50767,EAW50768,BAB15519,AAP34477,AAH06825,P98179,Q6XYB6,Q6ZPC8,Q6ZUK1,Q9H5V0 Hs.301404 GDB:632772 IS1-RNPL|RNPL protein-coding 1604982 RBM33 RNA binding motif protein 33 17081983,16344560,15489334,15342556,15146197,14702039,12853948,12690205,12477932,11181995 155435 NM_001008408,NM_053043,AC009403,AC078834,AC092460,CH236954,CH471149,AK055460,AK055645,AK056415,AL137724,AL832196,BC011923,BC093947,BC093949,BP373239,CN402759,CR599014,DA459140,DA504982,DA947894 NP_001008408,NP_444271,AAS02026,AAS01989,AAS07551,EAL23911,EAL23912,EAX04539,EAX04540,EAX04541,CAB70894,AAH11923,AAH93947,AAH93949,Q96EV2 Hs.591815 DKFZp434D1319|MGC20460|PRR8 protein-coding 1602128 RBM34 RNA binding motif protein 34 17081983,16710414,15635413,15489334,15134903,12477932,12429849,7788527 23029 NM_015014,AL133418,AL732292,CH471098,AK292362,BC029451,CR609536,CR615831,CR621996,D38491 NP_055829,CAI22959,CAI22960,CAI21936,EAW70005,EAW70006,EAW70007,BAF85051,AAH29451,BAA07503,P42696 Hs.535224 KIAA0117 protein-coding 1606552 RBM35A RNA binding motif protein 35A 17145811,15489334,14702039,12477932,11329013 54845 NM_001034915,NM_017697,NM_001122825,NM_001122826,NM_001122827,AC108860,AP005660,CH471060,AI990751,AK000178,AK001805,BC019932,BC035406,BC052574,BC067098,BC099916,BC101621,BC112043,BG182742,BG212336,BX641160,BX647570,CR614895 NP_001030087,NP_060167,NP_001116297,NP_001116298,NP_001116299,EAW91720,EAW91721,BAA90992,AAH19932,AAH67098,AAH99916,AAI12044,Q6NXG1 Hs.487471 FLJ20171 protein-coding 1605047 RBM35B RNA binding motif protein 35B 15498874,15489334,14702039,12477932,7566098 80004 NM_024939,AC020978,CH471092,AF289577,AK025571,AK025901,BC030146,BC052309,BC069241,BG721782,BU934976,BU943912,CR592167,T36047 NP_079215,EAW83214,EAW83215,EAW83216,AAL55761,BAB15173,BAB15275,AAH30146,Q9H6T0 Hs.436585,Hs.592053 FLJ21918|FLJ22248 protein-coding 1318308 RBM38 RNA binding motif protein 38 1580863 17050675,15489334,12477932,12200376,11780052 55544 Q9H0Z9 NM_017495,NM_183425,AL109955,CH471077,AF432218,BC018711,X75314 NP_059965,NP_906270,EAW75520,EAW75521,EAW75522,AAL99924,AAH18711,CAA53063,Q9H0Z9,ABM82920,ABM86110 Hs.236361 GDB:11507610 HSRNASEB|RNPC1|SEB4B|SEB4D|dJ800J21.2|rnpc1 rna-binding region (rnp1, rrm) containing 1 protein-coding 1320763 RBM39 RNA binding motif protein 39 The protein encoded by this gene is an RNA binding protein and possible splicing factor. The encoded protein is found in the nucleus, where it colocalizes with core spliceosomal proteins. Studies of a mouse protein with high sequence similarity to this protein suggest that this protein may act as a transcriptional coactivator for JUN/AP-1 and estrogen receptors. Multiple transcript variants encoding different isoforms have been observed for this gene. 1580863 8227358,17081983,15747776,15694343,15635413,14667819,12477932,11780052,11704680 9584 NM_004902,AL357374,CH471077,AK126158,AK130283,AL833168,NM_184234,BC008204,BC107886,BC131543,BC141835,BC158172,BI460666,BX537770,BX640714,BX640812,CR590141,CR590994,CR619114,CR749443,L10910,L10911 NP_909122,NP_004893,CAC11118,CAC11119,CAI13605,CAI13606,CAI13607,CAI13608,CAQ08573,CAQ08574,EAW76159,EAW76160,EAW76161,EAW76162,EAW76163,EAW76164,EAW76165,EAW76166,EAW76167,AAI31544,AAI41836,AAI58173,CAD97833,CAE45833,CAE45890,CAH18281,AAA16346,AAA16347,Q14498,Q5QP22,Q5QP23,Q68DD9,Q6MZY7,Q6N037,Q7Z3L0 Hs.282901 GDB:9957428 CAPER|CAPERalpha|CC1.3|DKFZp781C0423|FLJ44170|HCC1|RNPC2 rna-binding region (rnp1, rrm) containing 2 protein-coding 1315765 RBM4 RNA binding motif protein 4 9169144,17284590,16934801,16777844,16344560,16260624,15592455,15489334,14702039,12628928,12477932,12469345,11790298,9373149,8125298,15159402,16189514,12508107 5936 AP001157,CH471076,AK097592,AK225071,AK292805,AL832566,BC000307,BC021120,BC032735,BC064960,CR591279,CR595390,CR597902,CR601805,CR605201,CR606266,CR607947,CR610008,CR610607,CR611361,CR611868,CR612821,CR613406,CR615125,CR616076,CR616840,CR617447,CR617646,CR617820,CR618589,CR622017,CR623100,CR624930,CR625125,DA046115,EU287938,U89505,NM_002896 Q9BWF3,ABZ92531,NP_002887,EAW74554,EAW74555,EAW74556,BAF85494,CAH10593,AAH00307,AAH21120,AAH32735,AAH64960,ABY74511,AAC51293 Hs.533712 GDB:9786188 DKFZp547K0918|LARK|MGC75138|RBM4A|ZCCHC21|ZCRB3A protein-coding 1605361 RBM41 RNA binding motif protein 41 16189514,15772651,15489334,14702039,12477932 55285 NM_018301,AL390039,CH471120,AK001878,AK023732,AL832966,BC006986 NP_060771,CAC19636,CAI41563,CAI41564,EAX02722,EAX02723,EAX02724,BAA91957,BAB14660,AAH06986,Q5JSN9,Q96IZ5 Hs.139053 FLJ11016|FLJ13670|RP13-383K5.1|bB383K5.1 protein-coding 1601847 RBM42 RNA binding motif protein 42 16713569,16189514,12477932 79171 NM_024321,AC002115,BC002868,BC004204,BC031682,CR598528,CR599323,CR599496,CR599588,CR605060,CR609008,CR609262,CR609383,CR610705,CR612815,CR615324,CR617718,CR618432,CR619059,CR619252,CR620548,CR620715,CR620876,CR620943,CR621515,CR623034 NP_077297,AAB57629,AAH02868,AAH04204,AAH31682,Q9BTD8 Hs.5086 MGC10433 protein-coding 1604694 RBM43 RNA binding motif protein 43 14702039 375287 NM_198557,AC009311,AC018731,CH471058,AK127552,BC136411 NP_940959,EAX11514,BAC87031,AAI36412,Q6ZSC3 Hs.302442 C2orf38|FLJ45645 protein-coding 1625816 RBM44 RNA binding motif protein 44 14702039,12477932 375316 NM_001080504,AC012076,AK097730,AK130316,BC126111,BX648107 NP_001073973,BAC05154,BAC85324,AAI26112,Q6ZP01,Q8N7S3,AAI56420 Hs.471779 FLJ40411 protein-coding 730942 RBM45 RNA binding motif protein 45 12220514,15489334,12477932 129831 NM_152945,AC011238,AC011998,CH471058,AB036991,AF526533,AK126575,BC037837,BC066549 NP_694453,EAX11044,EAX11045,EAX11046,BAC16207,AAM88417,AAH37837,AAH66549,Q8IUH3,Q8IY53 Hs.377257 DRB1|FLJ44612|MGC42237 protein-coding 1602830 RBM46 RNA binding motif protein 46 12477932 166863 NM_144979,AC009567,CH471056,AK125877,BC028588 NP_659416,EAX04902,EAX04903,AAH28588,Q8TBY0 Hs.133095 MGC27016 protein-coding 1642917 RBM47 RNA binding motif protein 47 16344560,16341674,15342556,12477932 54502 NM_001098634,NM_019027,AC098869,AC112717,AF261889,CH471069,AF262323,AK000280,AK024997,AK025296,BC034402,BC071585,BC126261,BM837005,BP332501,BX648404,CB124502,DA861151 NP_001092104,NP_061900,AAM21972,EAW92964,EAW92965,EAW92966,EAW92967,EAW92968,EAW92969,AAM21973,BAA91049,AAH34402,AAI26262,A0AV96 Hs.518727 DKFZp686F02235|FLJ20273|FLJ21344|FLJ21643 protein-coding 1351687 RBM4B RNA binding motif protein 4B 737633,1580863 17081983,16189514,15489334,14702039,12628928,12477932,12429849 737633 83759 NM_031492,AP001157,CH471076,AK095158,BC003503,BC004951,CR591230,CR614869 NP_113680,EAW74558,AAH03503,AAH04951,Q9BQ04 Hs.656291 MGC10871|RBM30|RBM4L|ZCCHC15|ZCRB3B protein-coding 1312863 RBM5 RNA binding motif protein 5 1580863 10352938,12226669,18038152,17606309,17081983,16927403,16585163,16546166,16169070,15489334,15338470,15192330,14702039,12581154,12477932,12036935,10949932,10508479,10497265,10486216,16945339 10181 NM_005778,AC104450,CH471055,U73168,AB208813,AF091263,AF103802,AF107493,AK097195,BC002957,CR618011,CR618916,U23946 NP_005769,EAW65040,EAW65041,EAW65042,AAB42216,BAD92050,AAD04159,AAF02422,AAF99551,AAA99715,P52756,Q59HE6,Q9HDA6,AAI56349,AAI57103 Hs.439480 GDB:9865045 FLJ39876|G15|H37|LUCA15|RMB5 protein-coding 1342651 RBM6 RNA binding motif protein 6 1580863 10352938,17908320,17360941,17081983,16964243,15302935,14702039,12477932,11085536,10486216,10353602,9500467 10180 AC104450,AC105935,CH471055,AF042857,AF069517,AF091264,AK093836,AK291719,AL832236,AY216800,BC012112,BC030057,BC046643,BX648535,EF566883,EF566884,EF566885,NM_005777,U50839 NP_005768,EAW65039,AAC05826,AAC21578,AAD04160,BAF84408,AAO91806,AAH46643,AAC35207,P78332,Q6K043,Q86SS3 Hs.439480 GDB:9865046 3G2|DEF-3|DEF3|DKFZp686B0877|FLJ36517|HLC-11|NY-LU-12|g16 protein-coding 1317542 RBM7 RNA binding motif protein 7 1580863 16964243,16189514,15489334,15302935,14702039,12634307,12477932,9373149,8125298 10179 NM_016090,AP002373,CH471065,AB209753,AF156098,AK002015,AK225615,AK225667,BC013320,BC034381,BC070262,CR592590,CR593114,CR604871 NP_057174,EAW67246,EAW67247,EAW67248,BAD92990,AAD39257,BAA92036,AAH34381,AAH70262,Q59EQ8,Q6IRX3,Q9Y580 Hs.533736 GDB:9865047 FLJ11153 protein-coding 1320809 RBM8A RNA binding motif protein 8A This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. Two alternative start codons result in two forms of the protein, and this gene also uses multiple polyadenylation sites. 1580863 11030346,10662555,14730019,12226669,11013075,18243119,17456004,17081983,16964243,16931718,16501559,16303743,16209946,16189514,16170325,16100109,16083285,15635413,15489334,15302935,14625303,12944400,12781131,12730685,12718880,12477932,12093754,12054603,11991638,11707413,11707068,11696323,11546874,11546873,11447110,11118221,11042152,11004516,9933612 9939 NM_005105,AF403012,AL160282,CH471244,CQ783804,AF127761,AF161463,AF182415,AF198620,AF231511,AF299118,AK075009,AL049219,BC017088,BC017770,BC071577,CR541805,CR541823 NP_005096,AAL26999,EAW71418,EAW71419,CAF86870,AAD21089,AAF29078,AAG14951,AAF37551,AAG16781,AAG27091,AAH17088,AAH17770,AAH71577,CAG46604,CAG46622,Q8WWE9,Q9Y5S9 Hs.654719 GDB:10797044 BOV-1A|BOV-1B|BOV-1C|MDS014|RBM8|RBM8B|Y14|ZNRP|ZRNP1 protein-coding 1352463 RBM8B RNA binding motif protein 8B pseudogene 11707068,11013075 112846 NG_002415,AF403013,AL132778 GDB:10797028 pseudo 1323505 RBM9 RNA binding motif protein 9 This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the estrogen receptor 1 transcription factor and regulates estrogen receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 11875103,17715393,16713569,16537540,16344560,16260614,16189514,15489334,15461802,14702039,12529303,12477932,11401487,10591208 23543 AY072786,AY960684,BC013115,BC025281,CR456559,CR599679,CR600481,CR619660,DA493176,DB461443,DQ778625,NM_001082578,NM_001082579,NM_014309,NM_001082577,NM_001031695,NM_001082576,AL049748,AL079295,CH471095,AF229058,AK055213,AK057055,AK091398,AK091695,AK130730,AK291460,AL009266,AL832604,AM419009 AAL67150,AAX84843,AAH13115,AAH25281,CAG30445,ABG77459,O43251,CAK54590,CAK54889,ABM82646,ABM85823,ABM85824,NP_001076047,NP_001076048,NP_055124,NP_001076046,NP_001026865,NP_001076045,CAI20525,EAW60072,EAW60073,EAW60074,EAW60075,EAW60076,EAW60077,EAW60078,EAW60079,AAL71905,BAB70875,BAF84149,CAA15842,CAL91352 Hs.282998 GDB:10795335 Fox-2|HNRBP2|HRNBP2|RTA|dJ106I20.3|fxh protein-coding 1317165 RBMS1 RNA binding motif, single stranded interacting protein 1 This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Multiple transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. Several of these were isolated by virtue of their binding to either strand of an upstream element of c-myc (MSSPs), or by phenotypic complementation of cdc2 and cdc13 mutants of yeast (scr2), or as a potential human repressor of HIV-1 and ILR-2 alpha promoter transcription (YC1). A pseudogene for this locus is found on chromosome 12. 1580863 14702039,12477932,10869558,9373149,8871567,8134115,8125298,8041632,7838710,15489334 5937 NM_016836,NM_002897,NM_016839,AC092153,AC104598,AC131754,AC133105,CH471058,D82361,AK127157,AK225887,BC012992,BC012993,BC018951,BC037862,BC051889,BX648246,CR591760,CR598283,CR598466,CR606614,D28482,L11289,X64652,X77494 NP_058520,NP_002888,NP_058523,AAX93095,AAX93183,AAY15005,EAX11381,EAX11382,EAX11383,EAX11384,EAX11385,EAX11386,EAX11387,EAX11388,BAA19554,BAA19555,BAA20858,AAH12992,AAH12993,AAH18951,AAH51889,BAA05841,CAA45923,CAA54628,P29558,Q14869,Q53P46,Q53QX8,Q53RG6,Q5CZ65,Q5CZ66,Q6I9R1,Q9UEK5 Hs.470412 GDB:360340 MGC15146|MGC3331|MSSP|MSSP-1|MSSP-2|MSSP-3|SCR2|YC1 protein-coding 1350787 RBMS1P RNA binding motif, single stranded interacting protein 1, pseudogene 8871567 5938 NG_000866,AC078889,D82351 GDB:9834906 MSSP1 pseudo 1312477 RBMS2 RNA binding motif, single stranded interacting protein 2 The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. 1580863 8041632,15489334,12477932,8889548,1533657 5939 NM_002898,AC090681,AC097104,CH471054,AL698629,BC027863,BC072679,BM929514,CR594007,CR611083,CR612928,D28483 NP_002889,EAW96947,EAW96948,AAH27863,AAH72679,BAA05842,Q15434 Hs.645521,Hs.683360 GDB:385147 FLJ43262|SCR3 protein-coding 1641974 RBMS2P RNA binding motif, single stranded interacting protein 2 pseudogene 643427 XR_016607 Hs.676955 pseudo 1343809 RBMS3 RNA binding motif, single stranded interacting protein The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 17586524,15489334,14702039,12477932,10675610 27303 NM_001003793,NM_001003792,NM_014483,AC012262,AC021068,AC092795,AC092796,AC097633,AC098650,AC099048,CH471055,AA428240,AF023259,AK097311,AK292789,AW779062,AY236871,AY236872,BC117315 NP_001003793,NP_001003792,NP_055298,EAW64405,EAW64406,EAW64407,EAW64408,AAC63910,BAF85478,AAP75555,AAP75556,AAI17316,Q6XE24,Q8N6F9 Hs.696468 GDB:11504549 protein-coding 1349812 RBMX RNA binding motif protein, X-linked This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified but their biological nature has not been determined. 1580863 7692398,16189514,17353931,12226669,17387044,17081983,16964243,16677675,16552754,16491274,15782174,15772651,15489334,15302935,15144186,14702039,12477932,12388589,12165565,11991638,11420617,11101529,10749975,10391207,10391206,10332027,8889549,1551662,14559993 27316 AF266723,AL683813,CH471150,AA160187,AK091520,AK096015,AK097941,AY464692,BC006550,BC007435,NM_002139,BU587845,BX647131,CR597391,CR599705,CR605777,CR607658,CR613147,CR616578,CR616933,Z23064 NP_002130,AAK58567,CAI39448,EAW88453,EAW88454,EAW88455,EAW88456,EAW88457,BAC04674,AAR28036,AAH06550,AAH07435,CAA80599,P38159,Q8N8Y7,ABM84137,ABM87539 Hs.380118,Hs.710162 GDB:10795930 HNRPG|RBMXP1|RBMXRT|RNMX|hnRNP-G protein-coding 1345969 RBMX2 RNA binding motif protein, X-linked 2 737633,1580863 15772651,15489334,15302935,12477932,10810093,17081983 737633 51634 NM_016024,AL035423,CH471107,AF078865,AF151837,AK292855,AL050405,BC003676,BC010036,BC012345,BC033750,BC040433,BC050707,BC063517,BC105582,CR601085 NP_057108,CAI42443,CAI42444,EAX11799,EAX11800,AAD44497,AAD34074,BAF85544,CAB43745,AAH03676,AAH33750,AAI05583,Q05DU0,Q0VGM7,Q5JY83,Q9Y388,Q9Y6G0 Hs.61184 CGI-79 protein-coding 1603234 RBMXL1 RNA binding motif protein, X-linked-like 1 This gene may represent an evolving pseudogene of the RBMX gene. RBMX is an active X chromosome homolog of the Y chromosome RBMY gene. Pseudogenes of the RBMX gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. This gene has lost an exon-intron structure of the coding region, compared to the RBMX gene. The exact function of this gene is unknown. 12477932,10441733 494115 BC012942,NM_019610,AL139416,CH471097,AL832554,AL832785 AAH12942,NP_062556,EAW73155,EAW73156,CAI46148 Hs.481898 KAT3 protein-coding 1603656 RBMXL2 RNA binding motif protein, X-linked-like 2 This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. 17081983,15489334,15302935,12477932,12389739,10958650,10749975 27288 NM_014469,AC100875,AF279289,CH471064,AF069682,AK292271,BC029295,BC057796,BX091666 NP_055284,AAF82129,EAW68665,AAC24858,BAF84960,AAH57796,O75526 Hs.121605 HNRNPG-T|HNRPGT protein-coding 1351947 RBMXP1 RNA binding motif protein, X-linked pseudogene 1 16707624,10391206,7692398,1551662 3186 NG_001022,AL121573 GDB:132313 HNRNP-G|HNRPG pseudo 1605160 RBMXP2 RNA binding motif protein, X-linked pseudogene 2 441391 NG_004760,AL390844 pseudo 2291760 RBMXP3 RNA binding motif protein, X-linked pseudogene 3 143543 NR_002197,NG_007349,AP001646 pseudo 2291807 RBMXP4 RNA binding motif protein, X-linked pseudogene 4 100132580 XR_037807,XR_037622,XR_037809 pseudo 1342867 RBMY1A1 RNA binding motif protein, Y-linked, family 1, member A1 This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 1580863 8269511,9598316,17453684,17318228,17001072,15489334,15184870,12815422,12477932,12376959,11869379,11149922,10823932,10749975,9547301,8875892 5940 NM_001007526,NM_005058,NG_004832,AC010141,BC047768,BC070298,BU568309,BX119894,X76059 NP_001007527,NP_005049,AAH47768,AAH70298,CAA53659,Q15414 Hs.380450 GDB:285393 RBM1|RBM2|RBMY|YRRM1|YRRM2 protein-coding 1351846 RBMY1A2 RNA binding motif protein, Y-linked, family 1, member A2 9598316 5941 GDB:9848784 1347930 RBMY1A3P RNA binding motif protein, Y-linked, family 1, member A3 pseudogene 12815422 286557 NR_001547,AC006158,AF527837 Hs.567833 GDB:11510200 pseudo 1354434 RBMY1B RNA binding motif protein, Y-linked, family 1, member B This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 15184870,12815422,9598316,8875892,8269511 378948 NG_004832,AC010141,BC146853,NM_001006121 NP_001006121,AAI46854 Hs.536001 protein-coding 1349852 RBMY1C RNA binding motif protein, Y-linked, family 1, member C 9598316,15489334,10749975,8269511 5942 U36610,U36604,U36605,U36606,U36607,U36608,U36609 Q15376,AAC16917,AAC16918 GDB:9848787 protein-coding 1347232 RBMY1D RNA binding motif protein, Y-linked, family 1, member D This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 15184870,12815422,12477932,9598316,8875892,8269511 378949 NM_001006120,NG_004755,AC007322 NP_001006120 Hs.380450 protein-coding 1342986 RBMY1E RNA binding motif protein, Y-linked, family 1, member E This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 15184870,12815422,12477932,9598316,8875892,8269511 378950 NM_001006118,NG_004755,AC007322 NP_001006118 Hs.536001 protein-coding 1352327 RBMY1F RNA binding motif protein, Y-linked, family 1, member F This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 737633 8269511,15489334,15184870,12815422,12477932,10749975,9598316,8875892 737633 159163 NM_152585,NG_004755,AC023342,U35882,BC030018,X76060 NP_689798,AAH30018,CAA53660,Q15415,ABM82125 Hs.567746 MGC33094|YRRM2 protein-coding 1353734 RBMY1G RNA binding motif protein, Y-linked, family 1, member G 9598316 5943 GDB:9848789 1605123 RBMY1H RNA binding motif protein, Y-linked, family 1, member H 9598316 5944 NG_004832,AC010141,U36611,U36612,U36613,U36614,U36615 AAC16919,AAC16920,Q15378 GDB:9848791 pseudo 1345023 RBMY1J RNA binding motif protein, Y-linked, family 1, member J This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. 15184870,12815422,9598316,8875892,8269511 378951 NM_001006117,NG_004755,AC007320 NP_001006117,AAI48577,ABM85308 Hs.567746 protein-coding 1605122 RBMY2AP RNA binding motif protein, Y-linked, family 2, member A pseudogene 12815422,9598316 5945 NG_004755,AC007322 RBMY2A pseudo 1606648 RBMY2BP RNA binding motif protein, Y-linked, family 2, member B pseudogene 9598316,12815422 375850 NG_004755,AC008175,AC016694,AF026563,U36616,U36617,U36618,U36619,U36620,U36621 AAC16921,AAC16922,Q15381 RBMY2B pseudo 1604234 RBMY2CP RNA binding motif protein, Y-linked, family 2, member C pseudogene 12815422 140123 NG_004755,AC009947 RBMY2 pseudo 1605804 RBMY2DP RNA binding motif protein, Y-linked, family 2, member D pseudogene 12815422 347598 NG_004755,AC006991 RBMY2 pseudo 1348556 RBMY2EP RNA binding motif protein, Y-linked, family 2, member E pseudogene 12815422,9344660 159125 NR_001574,XR_042181,NG_004832,AC010086,U94388 Hs.567745 pseudo 1348708 RBMY2FP RNA binding motif protein, Y-linked, family 2, member F pseudogene 737633,1580863 12815422,12477932,9344660 737633 159162 NR_002193,NG_004755,AC007320,CH878735,BC026077,U94387 EAW61216,AAH26077 Hs.567746,Hs.684794 MGC26641 pseudo 1344398 RBMY2GP RNA binding motif protein, Y-linked, family 2, member G pseudogene 12815422 378952 NG_003081,AC006335 pseudo 1354231 RBMY2HP RNA binding motif protein, Y-linked, family 2, member H pseudogene 12815422 378953 NG_003082,AC007274 pseudo 1344730 RBMY2JP RNA binding motif protein, Y-linked, family 2, member J pseudogene 12815422 378955 NG_003083,AC016749 pseudo 1345287 RBMY2KP RNA binding motif protein, Y-linked, family 2, member K pseudogene 12815422 140100 NG_003074,AC051663 pseudo 1350122 RBMY2MP RNA binding motif protein, Y-linked, family 2, member M pseudogene 12815422 140101 NG_003075,AC007967 pseudo 1353982 RBMY2NP RNA binding motif protein, Y-linked, family 2, member N pseudogene 12815422,9847074 378956 NG_003084,AC006986,AC010891 pseudo 1345272 RBMY2OP RNA binding motif protein, Y-linked, family 2, member O pseudogene 12815422 379005 NG_003085,AC006986 pseudo 1347320 RBMY2QP RNA binding motif protein, Y-linked, family 2, member Q pseudogene 12815422 379006 NG_003086,AC006987 pseudo 1604939 RBMY2SP RNA binding motif protein, Y-linked, family 2, member S pseudogene 12815422 379007 NG_004832,AC010086 pseudo 1604938 RBMY2TP RNA binding motif protein, Y-linked, family 2, member T pseudogene 12815422 379008 NG_004832,AC010086 pseudo 1604937 RBMY2UP RNA binding motif protein, Y-linked, family 2, member U pseudogene 12815422,9847074 379009 NG_004755,AC023342,AC025227 pseudo 1604936 RBMY2VP RNA binding motif protein, Y-linked, family 2, member V pseudogene 12815422 379010 NG_004755,AC007320 pseudo 1604935 RBMY2WP RNA binding motif protein, Y-linked, family 2, member W pseudogene 12815422 379011 NG_004755,AC010080 pseudo 1604934 RBMY2XP RNA binding motif protein, Y-linked, family 2, member X pseudogene 12815422 379012 NG_004755,AC016698 pseudo 1604933 RBMY2YP RNA binding motif protein, Y-linked, family 2, member Y pseudogene 12815422 379024 NG_004755,AC006386 pseudo 1349648 RBMY3AP RNA binding motif protein, Y-linked, family 3, member A pseudogene 12815422,9344660 64593 NR_001573,AC025819,U94385,U94386 Hs.404172 RBMY3P|RBMY4P|SPATA14 pseudo 732391 RBP1 retinol binding protein 1, cellular RBP1 is the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. The gene harbors four exons encoding 24, 59, 33, and 16 amino acid residues respectively. The second intervening sequence alone occupies 19 kb of the 21 kb of the gene. 1580863 17593084,15865448,15608670,15451426,15175163,15094224,15009723,12883492,12826154,12631600,12477932,12111198,11274389,11118440,10203351,9858824,9452451,9005841,7666002,7556191,3472205,3356192,2992469,2856408,1654334,1332671,1322170 5947 NM_002899,AC046134,CH471052,X07437,X07438,AK290315,BC121052,CR541979,CR542005,CR602881,M11433,M36809 NP_002890,EAW79035,CAA30318,BAF83004,AAI21053,CAG46776,CAG46802,AAA60257,AAA35714,P09455,Q6FGX8 Hs.529571 GDB:120340 CRABP-I|CRBP|CRBP1|CRBPI|RBPC protein-coding 734415 RBP2 retinol binding protein 2, cellular RBP2 is an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. RBP2 may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. 1580863 1654334,2992469,18076076,15489334,12477932,12016134,11274389,10072590,7657783,3029082,1322170,1115525,11358960 5948 AC097103,CH471052,AI076320,AK291978,AW772327,BC069296,BC069361,BC069396,BC069424,BC069447,BC069469,BC069513,NM_004164,BC069522,BX282005,U13831 NP_004155,EAW79036,BAF84667,AAH69296,AAH69361,AAH69396,AAH69424,AAH69447,AAH69469,AAH69513,AAH69522,AAC50162,P50120,Q6ISL4 Hs.655516 GDB:119548 CRABP-II|CRBP2|CRBPII|RBPC2 protein-coding 735986 RBP3 retinol binding protein 3, interstitial Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. 1580863 2542268,15713799,12477932,11511084,11161734,8702792,3827838,3743780,3455009,3170584,2907505,2792773,2402443,2303470 5949 NM_002900,AL731561,CH471251,J05253,M33875,X53044,BC039844,J03912,M22453 NP_002891,CAH74045,EAW50659,AAC18875,AAA59453,CAA37213,AAH39844,AAA59188,AAA36126,P10745,Q5VSR0,Q8IXN0 Hs.591928 GDB:120341 D10S64|D10S65|D10S66|IRBP|RBPI protein-coding 735251 RBP4 retinol binding protein 4, plasma This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. 1601615,1601613,1580863 14718574,6316270,18426837,18316031,18199128,17957146,17904683,17890490,17728376,17686833,17661007,17639305,17630267,17618858,17595259,17575262,17568782,17550959,17526940,17456573,17405846,17337499,17299074,17259477,17174134,17164313,17065684,17006670,17003346,16156801,15649951,15489334,15164054,12716133,12593674,12477932,12237133,11853533,11058747,10232633,10052934,9888420,8089102,7666002,6942701,6540172,5132677,3559267,3525470,3013795,2998779,2928844,2444024,2217163,1623143,574085,573217,571335 1601615,1601613 5950 NM_006744,AF025334,AF025335,AL356214,CH471066,X02775,X02824,BC020633,BX495987,X00129 P02753,ABM82307,ABM85484,NP_006735,AAC02945,AAC02946,CAH72328,EAW50065,EAW50066,EAW50067,EAW50068,CAA26553,CAB46489,AAH20633,CAA24959 Hs.50223 GDB:120342 retinol binding protein 4 protein-coding 1344722 RBP5 retinol binding protein 5, cellular 1580863 14702039,12479570,12477932,11274389,9373149,8125298,17497168,15489334 83758 NM_031491,AC018653,CH471116,AF212239,AK096947,AK223378,AY007436,BC029355 NP_113679,EAW88681,EAW88682,AAK14925,BAD97098,AAG09617,AAH29355,P82980,Q53FB1,ABM83539,ABM86779 Hs.246046 GDB:11502897 CRBP-III|CRBP3|CRBPIII protein-coding 1348730 RBP7 retinol binding protein 7, cellular Due to its chemical instability and low solubility in aqueous solution, vitamin A requires cellular retinol-binding proteins (CRBPs), such as RBP7, for stability, internalization, intercellular transfer, homeostasis, and metabolism.[supplied by OMIM] 1580863 16710414,15489334,12477932,12177003 116362 NM_052960,AL590639,AL603962,CH471130,AF399927,AY145438,BC033883,BC063013 NP_443192,CAI16811,EAW71637,EAW71638,AAK85409,AAN61071,AAH33883,AAH63013,Q5SZ15,Q8N4L3,Q96R05 Hs.422688 CRBP4|CRBPIV|MGC70641 protein-coding 1321529 RBPJ recombination signal binding protein for immunoglobulin kappa J region 1581297 9874765,10713164,8406481,18332109,18239137,18155729,17513780,17513037,17434929,17284587,17245125,17070841,17055026,16873269,16530044,16439682,16378632,16354684,16287852,15987768,15710417,15489334,15194757,15187023,14702039,14701863,14645224,14611647,14570916,12832621,12477932,12374742,11748221,11518718,11509665,11404076,10747963,10637481,10508479,9694793,9290259,9111040,9032325,8895530,8749394,7651391,7625272,2556644,10644367,12644465,15546612,8676443,10708423 1581297 3516 NM_203283,NM_203284,NM_015874,AC093637,AC097109,CH471069,L08904,AK056944,AK126357,AL600045,NM_005349,BC053531,BC053568,BC064976,BE269143,BM472788,BM555733,BM560796,BQ216033,CD653684,CR597051,CR598925,CR603040,CR612633,CR620986,CR623063,CR624016,CR625719,D14041,L07872,L07874,L07875,L07876,BC020780,Z36843 NP_005340,NP_976028,NP_976029,NP_056958,EAW92846,EAW92847,EAW92848,EAW92849,AAA91836,BAC86536,AAH20780,AAH64976,BAA21773,AAA60258,AAA16253,AAA16254,AAA16356,Q06330,Q14663,Q6ZTP8,ABZ92014 Hs.479396 GDB:138293 CBF1|IGKJRB|IGKJRB1|KBF2|MGC61669|RBP-J|RBPJK|RBPSUH|SUH|csl recombining binding protein suppressor of hairless (drosophila) protein-coding 1312429 RBPJL recombination signal binding protein for immunoglobulin kappa J region-like In mouse, recombining binding protein L (RBP-L) is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signalling pathway transcription factor RBP-J. However, unlike RBP-J, RBP-L does not interact with Notch receptors. RBP-L has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2 (EBNA2). The protein encoded by this gene is similar in sequence to the mouse RPB-L protein and Drosophila suppressor of hairless protein. 1580863 9929984,16354684,12477932,11780052,10644998,9111338 11317 NM_014276,AL021578,CH471077,AB024964,AB026048,AB027710,BC030213,BM311999 NP_055091,CAI21078,CAI21079,CAI21080,EAW75863,EAW75864,EAW75865,BAA88232,BAA86121,BAA87051,Q5QPV0,Q9UBG7,AAI52896,AAI56876 Hs.248217 GDB:9957950 RBP-L|RBPSUHL|SUH|SUHL recombining binding protein suppressor of hairless (drosophila)-like protein-coding 1347940 RBPJP1 RBPJ pseudogene 1 7873751,9290259,8406481 3517 NG_001151,CR788267,L07873 GDB:138294 IGKJRBP1|RBPSUHP1 recombining binding protein suppressor of hairless (drosophila) pseudogene 1 pseudo 1351653 RBPJP3 RBPJ pseudogene 3 7873751 58164 NG_001292,L34543 GDB:10796989 K2|RBPSUHP3 recombining binding protein suppressor of hairless (drosophila) pseudogene 3 pseudo 1349034 RBPJP4 RBPJ pseudogene 4 7873751 58163 NG_001291,L34544 GDB:10796991 K7|RBPSUHP4 recombining binding protein suppressor of hairless (drosophila) pseudogene 4 pseudo 1342648 RBPMS RNA binding protein with multiple splicing This gene encodes a member of the RRM family of RNA-binding proteins. The RRM domain is between 80-100 amino acids in length and family members contain one to four copies of the domain. The RRM domain consists of two short stretches of conserved sequence called RNP1 and RNP2, as well as a few highly conserved hydrophobic residues. The protein encoded by this gene has a single, putative RRM domain in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 8855282,16189514,16713569,15489334,15146197,14759258,14702039,12477932 11030 NM_001008710,NM_001008712,AC011204,AC102945,AC109329,CH471080,AK024192,AK098281,BC003608,BC063494,BC092476,BE733116,BG480355,CD518168,CN360712,CR604775,CR613046,D84107,D84108,D84109,D84110,D84111,N88549,NM_001008711,NM_006867 NP_001008710,NP_001008712,EAW63451,EAW63453,EAW63454,EAW63462,AAH03608,AAH92476,BAA12225,BAA12226,BAA12227,BAA12228,BAA12229,Q569H2,Q93062,NP_001008711,NP_006858 Hs.334587 GDB:9956209 HERMES protein-coding 1351025 RBPMS2 RNA binding protein with multiple splicing 2 14702039 348093 NM_194272,AC091582,AC100830,CH471082,AK124123,AK127873,AY369207,BC131612,BC148208 NP_919248,EAW77693,BAC87172,AAQ73311,AAI31613,Q6ZRY4 Hs.436518 protein-coding 1349749 RBPMSLP RNA binding protein with multiple splicing-like pseudogene 54032 GDB:10796416 1345408 RBPSUHP2 recombining binding protein suppressor of hairless (Drosophila) pseudogene 2 8406481,9290259 3518 GDB:138295 1343007 RBS Roberts syndrome 5951 GDB:118862 1318229 RBX1 ring-box 1 This gene encodes an evolutionarily conserved protein that interacts with cullins. The protein plays a unique role in the ubiquitination reaction by heterodimerizing with cullin-1 to catalyze ubiquitin polymerization. It also may be involved in the regulation of protein turn-over. 1559296,1559277 11961546,17353931,14564014,15781449,17217622,17028207,16678110,16503656,15601839,15601820,15489334,15461802,14960280,14739464,14702039,12732143,12609982,12504026,12481031,12477932,12149480,12140560,11956208,11717410,11675391,11384984,11359933,11337588,11311237,11027288,10713156,16189514,12628165,15448697,10643962,10591208,10579999,10531037,10230407,10230406,10213692,10213691 1559296,1559277 9978 NM_014248,AL080242,CH471095,AF085906,AF140598,AF142059,AK090764,AY099360,BC001466,BC017370,CR456560 NP_055063,CAB62925,EAW60402,EAW60403,AAD29715,AAD30146,AAM21718,AAH01466,AAH17370,CAG30446,P62877,CAK54591,CAK54890 Hs.474949 GDB:9958545 BA554C12.1|MGC13357|MGC1481|RNF75|ROC1 protein-coding 1604740 RC3H1 ring finger and CCCH-type zinc finger domains 1 RC3H1, or roquin, encodes a highly conserved member of the RING type ubiquitin ligase protein family (Vinuesa et al., 2005 [PubMed 15917799]). The roquin protein is distinguished by the presence of a CCCH zinc finger found in RNA-binding proteins, and localization to cytosolic RNA granules implicated in regulating mRNA translation and stability.[supplied by OMIM] 16710414,15917799,14702039 149041 NM_172071,AL121983,AL136170,CH471067,AB095945,AK093501,AK122948,AY726570,BX537597 NP_742068,CAI19417,CAI19419,EAW90972,BAC23121,BAC04186,Q5TC82 Hs.30258 KIAA2025|RNF198|ROQUIN|RP5-1198E17.5 protein-coding 1312502 RC3H2 ring finger and CCCH-type zinc finger domains 2 10938276,15489334,14702039,12477932,9373149,8125298 54542 NM_001100588,NM_018835,AC007066,AL359512,CH471090,AF255303,AF255304,AK000308,AK000720,AK027042,AK226010,AL833177,AL834431,AW291376,BC011688,BC044642,BU783286 NP_001094058,NP_061323,CAI94962,CAI94963,CAI94964,CAI94965,EAW87547,EAW87548,EAW87549,EAW87550,EAW87551,AAG00432,AAG00433,BAA91073,BAA91340,BAB15634,CAI46182,CAD39091,AAH11688,AAH44642,Q4VXB0,Q4VXB1,Q4VXB3,Q9HBD1 Hs.533499 FLJ20301|FLJ20713|MGC52176|MNAB|RNF164 protein-coding 1344319 RCA1 renal carcinoma, familial, associated 1 7690964 GDB:230233 735348 RCAN1 regulator of calcineurin 1 The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Three transcript variants encoding three different isoforms have been found for this gene. 734902,1580889,1581652,1580863 15935327,8595418,18294449,18180251,18056702,17910944,17693409,17610901,17596961,17565986,17331188,17062574,16919501,16627481,16442855,16406492,16231093,16126726,16109302,15489334,15448146,15358155,15263820,15256217,15016650,14702039,12809556,12477932,12225619,12063245,11483593,10861295,10830953,10722714,8619474,9325060,9110174 734902,1580889,1581652 1827 NM_203417,NM_203418,NG_007071,AP000326,AP000327,CH471079,U53821,AF303449,AF400429,AK055845,AK092184,AK131569,AY325903,BC002864,BT007363,BX419260,CR456878,CR542065,CR590235,NM_004414,CR617324,U28833,U85265,U85266,U85267 AAB84372,P53805,Q6FGP2,Q6ZMM3,Q7Z555,Q9H2A1,NP_004405,NP_981962,NP_981963,EAX09777,EAX09778,EAX09779,EAX09780,EAX09781,EAX09782,AAF21218,AAG40774,AAK92478,BAD18702,AAP96743,AAH02864,AAP36027,CAG33159,CAG46862,AAB81557,AAB84370,AAB84371 Hs.282326 GDB:731000 ADAPT78|CSP1|DSC1|DSCR1|MCIP1|RCN1 down syndrome critical region homolog 1 (human) protein-coding 69211 RCAN2 regulator of calcineurin 2 1580863 17610901,17114339,16344560,14702039,12477932,12102656,10861295,10756093,10722714,8889548,8662924 10231 NM_005822,AL359633,AL390741,CH471081,AK090990,AY034085,AY034086,BC038509,BM728501,CR604948,D83407,DA207634 NP_005813,CAI16754,CAH73259,CAH73260,EAX04294,AAK59805,AAK59806,AAH38509,BAA11911,Q14206,Q86YJ0,ABM82584,ABM85771 Hs.440168 GDB:3811915 CSP2|DSCR1L1|MCIP2|RCN2|ZAKI-4|hRCN2 down syndrome critical region gene 1-like 1 protein-coding 1323485 RCAN3 RCAN family member 3 1580863 10756093,18022329,17270291,17081983,16710414,16516408,15489334,12477932 11123 NM_013441,AL034582,CH471134,AF176116,AF176117,AY906854,BC035854,BX105019,EF431960,EF467309,EF529733 NP_038469,CAI21915,CAI21916,EAW95132,EAW95133,EAW95134,AAF01684,AAF01685,AAW83514,AAH35854,ABO27184,ABO46010,ABP88933,Q5ECL3,Q5TGC5,Q5TGC7,Q9UKA8,ABM83360,ABM86571 Hs.656799 GDB:9956855 DSCR1L2|MCIP3|RCN3|hRCN3 down syndrome critical region gene 1-like 2 protein-coding 1318252 RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. 1580863 11256614,16381901,15489336,15057823,14985364,14702039,14565662,12477932,11306461,11230166,11076863 55213 AK090807,AK096654,AL833821,BC038104,AB209222,NM_018191,AL139321,CH471075,AF334406,AI079751,AJ319660,AK001578 BAA91768,BAC04833,CAD38683,AAH38104,Q0JV86,Q59G87,Q8IY29,Q8NDN9,Q9NVI3,BAD92459,CAL37574,NP_060661,CAH71047,EAX08829,AAK38372,CAC40027 Hs.508021 CLLD7|CLLL7|GLP|MGC33184|RP11-185C18.1 protein-coding 1351172 RCBTB2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 This gene encodes a member of the RCC1-related GEF family. The N-terminal half of the encoded amino acid sequence shows similarity to the regulator of chromosome condensation RCC1, which acts as a guanine nucleotide exchange factor (GEF) protein for the Ras-related GTPase Ran. 1302754,1580863 9806834,16189514,15489334,15057823,14702039,12477932,12115502,10089422 1302754 1102 NM_001268,AL157813,AY341245,CH471075,AB209543,AF060219,AK023010,AK122778,BC029052,BC031965,BG772479 NP_001259,CAH70795,AAP88928,EAX08799,EAX08800,BAD92780,AAC79987,AAH29052,O95199,Q59FB7,ABM81744,ABM87806 Hs.657385 GDB:9837763 CHC1L protein-coding 1343250 RCC1 regulator of chromosome condensation 1 1580863 1944575,2677018,11375490,1961752,3678831,15014043,17855385,17435751,17251553,17081983,16964243,16052169,15635413,15489334,15302935,14565978,12477932,12194828,12062430,11932251,11336674,11310559,10875935,10811825,10744690,10369786,10089422,9510255,7983178,7851910,7616957,2236072,1769659,16189514,8896453 1104 NM_001048195,NM_001269,AL513497,CH471059,NM_001048194,D00591,AF498924,AI198971,BC001589,BC010067,BC065008,BC069198,CR407693,CR607152,CV811053,S75708,X12654 NP_001041659,NP_001041660,NP_001260,CAI22287,EAX07690,EAX07691,EAX07692,EAX07693,EAX07694,EAX07695,BAA00469,AAM21072,AAH10067,AAH69198,CAG28621,AAB32653,CAA31182,P18754,Q16269,Q5T081,Q6NT97,ABM84079,ABM87759 Hs.469723 GDB:119056 CHC1|RCC1-I protein-coding 1603393 RCC2 regulator of chromosome condensation 2 17081983,15489334,12919680,12477932,12429849,10819331,9914378,7559776,1939370,15249581 55920 NM_018715,AC004824,CH471134,AB040903,AJ421269,AK026005,AL359612,BC004933,BC042141,BC053908,BC142946,CR594534,CR595887,CR617891,CR619013 NP_061185,EAW94838,EAW94839,BAA95994,CAD13148,CAB94882,AAH04933,AAH42141,AAH53908,AAI42947,Q9P258 Hs.380857 DKFZp762N0610|KIAA1470|TD-60 protein-coding 1605899 RCCD1 RCC1 domain containing 1 14702039,12477932 91433 NM_033544,NM_001017919,AC068831,CH471101,AA564459,AK092661,AL110104,AL110105,AL527085,BC008845,BC064606,BC094739,BC113826,BC140708,BC140709,BQ924078,BU850147,BX375216,CR591209,CR601366,CR604570,CR610231,CR614843,CR620421 NP_291022,NP_001017919,EAX02130,EAX02131,EAX02132,AAI13827,AAI40709,AAI40710,Q29RX6 Hs.655895 MGC14386 protein-coding 1346588 RCD1 retinal cone dystrophy 1 5953 GDB:333929 1319506 RCE1 RCE1 homolog, prenyl protein peptidase (S. cerevisiae) This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family. This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. 1580863 10085068,16361710,15489334,14625273,14504265,12818187,12477932,11038283,10373325 9986 NM_005133,NM_001032279,XM_001129665,AP000485,CH471076,CQ834848,AF121951,AL713740,BC052622,BC093726,BC093728,Y13835 NP_005124,NP_001027450,XP_001129665,EAW74565,EAW74566,EAW74567,CAH05639,AAD22632,AAH52622,AAH93726,AAH93728,CAB46278,Q0P5W4,Q9Y256 Hs.654972 GDB:9958556 FACE2|RCE1A|RCE1B rce1 homolog, prenyl protein protease (s. cerevisiae) protein-coding 1353437 RCHY1 ring finger and CHY zinc finger domain containing 1 The protein encoded by this gene has ubiquitin-protein ligase activity. This protein binds with p53 and promotes the ubiquitin-mediated proteosomal degradation of p53. This gene is oncogenic because loss of p53 function contributes directly to malignant tumor development. Transcription of this gene is regulated by p53. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 16914734,15547185,15280670,14702039,14701804,12654245,12477932,12200228,8889548,15781263,18006823,17950244,17721809,17568776,16934800 25898 NM_001009922,NM_015436,NM_001008925,AC096759,CH471057,AB209072,AF247041,AF255666,AF305424,AK091501,AL050144,AY888047,BC015464,BC031057,BC047393,BI913695,CB241669,CR596363,CR598430,CR612839 NP_001009922,NP_056251,NP_001008925,EAX05724,EAX05725,EAX05726,EAX05727,EAX05728,BAD92309,AAL76101,AAK96896,AAL09356,CAB43290,AAX78233,AAH15464,AAH31057,AAH47393,Q2KN33,Q59GN7,Q6PIQ5,Q86X26,Q96BL1,Q96PM5,Q9UHS6,Q9Y3X7 Hs.48297 ARNIP|CHIMP|DKFZp586C1620|PIRH2|PRO1996|RNF199|ZNF363|hARNIP protein-coding 1313278 RCL1 RNA terminal phosphate cyclase-like 1 1580863 10790377,16344560,15635413,15489334,15164053,14702039,12477932,11790298,11042152,9373149,9184239,8125298,3416880 10171 CR600925,CR612629,CR612665,CR613074,CR623784,CR625779,DB024289,DB448951,EF553527,BC001025,NM_005772,AL158147,AL353151,CH471071,AF067172,AF161456,AJ276894,AK022904,AK225872 AAH01025,ABQ66271,Q5VZU1,Q5VZU3,Q9Y2P8,NP_005763,CAH70317,CAH70318,CAH70319,CAH70320,CAH72285,CAH72286,EAW58776,EAW58777,AAD32456,AAF29016,CAB89811,BAB14300 Hs.194121 RNAC|RPCL1 protein-coding 1322672 RCN1 reticulocalbin 1, EF-hand calcium binding domain Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. 1580863 8416973,16713569,16554811,15489334,14702039,12477932,9192846,8586628 5954 NM_002901,AL078612,CH471064,AK094360,AK129791,AY423728,BC010120,D42073 NP_002892,EAW68227,EAW68228,AAS00491,AAH10120,BAA07670,Q15293,Q5J7V8,ABM83854,ABM87176 Hs.97887 GDB:6383031 FLJ37041|PIG20|RCAL|RCN protein-coding 733014 RCN2 reticulocalbin 2, EF-hand calcium binding domain Reticulocalbin 2 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. The RCN2 gene maps to the same region as type 4 Bardet-Biedl syndrome (MIM:600374), suggesting a possible causative role for reticulocalbin 2 in the disorder. 1580863 8034671,7624774,15489334,12477932,10748068,9533013,9261167,14743216 5955 NM_002902,AC051643,CH471136,X78670,AL110102,BC004892,BT009790,CR595477,CR596223,CR596401,CR596465,CR597519,CR597585,CR599064,CR609330,CR610299,CR613141,CR613525,CR614496,CR615949,CR616801,CR617037,CR626289,X78669 NP_002893,EAW99216,AAH04892,AAP88792,CAA55343,Q14257,Q53XN8 Hs.79088 GDB:7218411 E6BP|ERC-55|ERC55|TCBP49 protein-coding 1346169 RCN3 reticulocalbin 3, EF-hand calcium binding domain 1580863 16189514,16433634,15489334,12975309,12477932,10931946 57333 NM_020650,AC010619,AF183423,AY195859,AY358423,BC013436,CR593314,CR603643,CR609238,CR626627 NP_065701,AAG09692,AAO43054,AAQ88789,AAH13436,Q96D15 Hs.567550 RLP49 protein-coding 1313957 RCOR1 REST corepressor 1 The RCOR gene encodes a functional corepressor required for regulation of neural-specific gene expression.[supplied by OMIM] 1580863 12192000,17081983,16885027,16565220,16140033,16079794,15897453,15489334,15325272,12493763,12477932,12399542,12032298,11516394,11171972,11102443,11076863,10734093,10449787,9110174,8619474,7584044 23186 NM_015156,AL132801,AL136293,CH471061,AF070627,AF155595,AK026612,BC051003,BC064495,D31888 NP_055971,EAW81793,EAW81794,AAF01498,AAH51003,AAH64495,BAA06686,Q9UKL0,AAI11591 Hs.510521 COREST|KIAA0071|RCOR protein-coding 1353932 RCOR2 REST corepressor 2 737633,1580863 15489334,12477932 737633 283248 NM_173587,AP003780,CH471076,BC010608,BC023587 NP_775858,EAW74181,EAW74182,AAH10608,AAH23587,Q8IZ40 Hs.98788 protein-coding 1350848 RCOR3 REST corepressor 3 737633,1580863 16189514,17081983,16710414,15489334,14702039,12477932,10718198 737633 55758 NM_018254,AL590101,AL611964,CH471100,AB037764,AK001738,AK057001,AK125810,AK131312,BC031608,CR621031 NP_060724,EAW93423,BAA92581,BAA91872,AAH31608,Q9P2K3 Hs.696152 FLJ10876|FLJ16298|RP11-318L16.1 protein-coding 1601760 RCP9 calcitonin gene-related peptide-receptor component protein This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 8622957,10067875,17853344,16406141,15636430,15592455,15489334,14702039,12490608,12482973,12477932,12391170,12128288,11937264,11804624,11754963,10903324 27297 NM_014478,NM_001040647,NM_001040648,AC068533,CH236961,CH471140,AF073792,AK023295,AK290553,BC040107,BC052570,BC105808,BI600330,BX647867,DB472426,U51134 NP_055293,NP_001035737,NP_001035738,EAX07941,EAX07942,EAX07943,AAC25992,BAF83242,AAH40107,AAI05809,CAI46069,AAD05036,O75575,Q5HYF1 Hs.300684 CGRP-RCP|CRCP|MGC111194|RCP protein-coding 1603598 RCSD1 RCSD domain containing 1 17541395,15850461,12477932 92241 AL031733,AL356532,CH471067,AF545852,AK025425,AL137762,AL833211,AY530954,BC013186,BC072399,BC098426,BC101536,BC101562,NM_052862,CR618640 NP_443094,CAI21376,CAI21377,EAW90796,EAW90797,EAW90798,EAW90799,AAN52359,CAB70910,AAS99235,AAH13186,AAH72399,AAH98426,AAI01537,AAI01563,Q5TGW6,Q6JBY9 Hs.493867 CAPZIP|MGC126585|MGC126611|MGC21854|MK2S4|RP3-503M14.1 protein-coding 734065 RCVRN recoverin This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. 1580863 1672047,17374419,16713569,15489334,12789533,12596918,12507501,12477932,9753452,8912538,8598320,8500558,8422501,7906682,7745609,1999465,1467959,1388144,1387789,16189514 5957 NM_002903,AC026591,CH471108,AB001838,BC001720,BT009838,S43855,S45545,S62028 NP_002894,EAW90014,BAA19460,AAH01720,AAP88840,AAB23163,AAB23392,AAB26894,P35243,Q53XL0,ABM83748,ABM87067 Hs.80539 GDB:135477 RCV1 protein-coding 1348795 RD Radin blood group 5958 GDB:119549 1603852 RD3 retinal degeneration 3 17186464,15489334,12914764,12477932 343035 AC105275,CH471100,AK291210,AY191519,BC065541,BX647803,NM_183059 NP_898882,EAW93413,EAW93414,BAF83899,AAP12678,AAH65541,Q7Z3Z2 Hs.632495 C1orf36|LCA12 protein-coding 1344973 RDBP RD RNA binding protein The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. 1580863 10199401,10072631,9799600,9776767,9264031,8373374,3353717,2612324,16838299,17353931,2119325,14667819,12676794,17499042,17081983,16964243,16898873,16880520,15561718,15489334,15342491,15302935,14656967,14574404,12612062,12477932,11940650,11112772 7936 NM_002904,NG_004658,NG_000013,NG_005163,AF019413,AL049547,AL645922,AL662849,AL844853,BX005143,CH471081,CR388219,CR759782,M32274,M32275,M32276,M33230,M33231,U37117,BC025235,BC050617,BU935034,CD579634,CR592086,CR592359,CR599173,CR606109,CR608765,CR609166,CR620889,CR625999,CR626781,L03411,X16105,CR753845 NP_002895,AAB67979,CAB89308,CAQ09275,CAI17457,CAI41861,CAM25865,EAX03551,EAX03552,EAX03553,CAQ10910,CAQ07114,AAA36308,AAK29466,AAH25235,AAH50617,AAC37523,CAA34231,P18615,Q5JQK3,Q5ST47,Q9BQJ6,ABM87846,CAQ10909,CAQ07466,CAQ07468,CAQ10906,CAQ10907,CAQ10908 Hs.423935 D6S45|NELF-E|RD|RDP protein-coding 1351497 RDH10 retinol dehydrogenase 10 (all-trans) RDH10 generates all-trans retinal from all-trans retinol and may plan an important role in the photic visual cycle. All-trans retinal is isomerized to 11-cis retinal by the retinal G protein-coupled receptor (RGR; MIM 600342) when the retinal pigment epithelium (RPE) is illuminated.[supplied by OMIM] 1302393,1580863 12407145,17218779,14596915,12975309,12477932 1302393 157506 NM_172037,AC111149,CH471068,AF456765,AY358270,BC067131 NP_742034,EAW87001,EAW87002,AAN64747,AAQ88637,AAH67131,Q8IZV5 Hs.244940 protein-coding 1323753 RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis) RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM] 1580863 17286855,17249616,16303743,15489334,14702039,14674758,12532453,12477932,12226107,12036956,11245473,10810093,8018917 51109 NM_016026,AL049779,CH471061,CQ783647,AB209223,AF151840,AF167438,AF395068,AK057195,AK074749,AK289427,BC000112,BC011727,BC017787,BC026274,BC037302,BC051291,CR457180,CR590973,CR602441,CR608390,CR611069,CR613307,CR614910,CR616199,CR623193,CR626485,DC355364,DQ426886 NP_057110,EAW80948,EAW80949,EAW80950,CAF86792,BAD92460,AAD34077,AAF89632,AAK72049,ABD90542,Q0QD40,Q8TC12,BAF82116,AAH00112,AAH11727,AAH26274,AAH37302,AAH51291,CAG33461,Q59G86 Hs.226007 ARSDR1|CGI-82|FLJ32633|HCBP12|MDT1|PSDR1|RALR1|SCALD retinol dehydrogenase 11 (all-trans and 9-cis) protein-coding 1321376 RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). 1599415 12226107,17512964,17512723,17389517,17197551,15865448,15489334,15322982,15258582,14702039,12477932,9799089 1599415 145226 NM_152443,AL049779,CH471061,AK054835,AK315462,BC025724 NP_689656,EAW80951,BAB70811,BAG37849,AAH25724,Q96NR8 Hs.415322 GDB:9784208 FLJ30273|LCA3 retinol dehydrogenase 12 (all-trans and 9-cis) protein-coding 1312701 RDH13 retinol dehydrogenase 13 (all-trans/9-cis) 1580863 18039331,16303743,15489334,14702039,12975309,12477932,12226107 112724 NM_138412,AC011476,CH471135,AK075392,AK122764,AK291579,AY358473,BC009881 NP_612421,EAW72321,EAW72322,EAW72323,BAC11591,BAF84268,AAQ88837,AAH09881,Q8NBN7 Hs.327631 retinol dehydrogenase 13 (all-trans and 9-cis) protein-coding 1320191 RDH14 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) 1580863 11256614,16381901,15489336,15489334,14702039,12975309,12477932,12435598,12226107,11076863 57665 NM_020905,AC079148,CH471053,AF237952,AK023625,AY358511,BC009830,CR597110,CR598421,CR598793,CR612704,CR619475 NP_065956,AAX93259,EAX00855,EAX00856,EAX00857,EAX00858,AAG12190,AAQ88875,AAH09830,Q53RX3,Q9HBH5,CAL38103 Hs.288880 PAN2 retinol dehydrogenase 14 (all-trans and 9-cis) protein-coding 1604846 RDH16 retinol dehydrogenase 16 (all-trans) 9677409,12534290,11967490,11294878,10329026 8608 AC026120,CH471054,AB209332,NM_003708,AF086735,AW449664,DQ499468,AF057034 NP_003699,EAW96968,BAD92569,AAC72923,ABF51671,O75452,Q1HDS8,Q59FX7,AAI60081,AAC39922 Hs.134958 RODH-4 protein-coding 1318857 RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 1599416,1580863 9115228,10369264,18363170,16637847,15489334,15302662,15007239,12967826,12906118,12860821,12788147,12732844,12536149,12477932,12226107,11812441,11470705,11274198,11078852,11053295,10617778,9931293,8889548,8884265,7836368,16189514 1599416 5959 NM_002905,AC009779,AF037062,CH471054,BC028298,BU731044,U43559,U89717 NP_002896,AAC09250,EAW96825,EAW96826,AAH28298,AAC50725,AAB93668,O00179,Q92781 Hs.632719 GDB:1391794 HSD17B9|RDH1 retinol dehydrogenase 5 (11-cis and 9-cis) protein-coding 1319361 RDH8 retinol dehydrogenase 8 (all-trans) All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH (Rattner et al., 2000 [PubMed 10753906]). It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of photoreceptors; hence it is also known as photoreceptor retinol dehydrogenase. It is important in the visual cycle by beginning the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin (Rando, 2001 [PubMed 11710234]). This is a rate-limiting step in the visual cycle (Saari et al., 1998 [PubMed 9667000]).[supplied by OMIM] 1580863 10753906,15755727,15322982,14702039,12226107,11710234,9667000,15028754 50700 NM_015725,AC008742,CH471106,AF229845,AK024022 NP_056540,EAW84062,AAF63160,BAB14782,Q9NYR8,AAI40329,AAI46480 Hs.675522 GDB:11507593 PRRDH protein-coding 1604728 RDHE2 epidermal retinal dehydrogenase 2 RDHE2 belongs to a family of short-chain alcohol dehydrogenases/reductases that catalyze the first and rate-limiting step that generates retinaldehyde from retinol (Matsuzaka et al., 2002 [PubMed 12372410]).[supplied by OMIM] 15457346,14702039,12477932,12372410 195814 NM_138969,AC103849,CH471068,AB083038,AK057667,AK095159,AY444559,BC037219,BC064525 NP_620419,EAW86780,EAW86781,EAW86782,BAB91014,BAB71545,AAS68535,AAH37219,AAH64525,Q8N3Y7 Hs.170673 FLJ33105|RDH#2|RDH-E2 protein-coding 1321329 RDM1 RAD52 motif 1 This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. 1580863 17905820,15611051,12750383,12477932 201299 NM_145654,NM_001034836,AC004675,AC015849,CH471147,AB080728,BC032114,BC038301,BC127190,BM559857,BU599050,BX376188,CR618249,EF488475,EF488479 ABW03899,NP_663629,NP_001030008,EAW80116,EAW80117,EAW80118,BAC02562,AAH38301,AAI27191,ABS86952,ABS86956,Q8NG50 Hs.194411 MGC33977|RAD52B protein-coding 1348654 RDX radixin Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. 1580863 11375520,10816569,10806479,9681826,9501018,9472040,9456324,9430655,9348291,9287351,9184664,8889548,8858161,8486357,1429901,15818415,14499480,17825285,17515952,17237445,17226784,16889625,15489334,15313460,15252013,15178693,15149851,15096511,14568249,12734202,12522145,12499563,12477932,12385025,12360288,12226091,12070130,12068294 5962 DQ916741,DQ916742,L02320,NM_002906,AP000901,AP002788,CH471065,AF086024,BC002626,BC020751,BC029467,BC047109,BI600187,BX648536,CF124193,CF265114,DQ916738,DQ916739,DQ916740 ABI34712,ABI34713,ABI34714,AAA36541,P35241,Q05CU6,Q6PKD3,Q8NCS1,Q9NST9,NP_002897,EAW67129,EAW67130,EAW67131,AAH02626,AAH20751,AAH29467,AAH47109,ABI34710,ABI34711 Hs.263671,Hs.592679 GDB:136270 DFNB24 protein-coding 1351817 RDXP1 radixin pseudogene 1 5963 GDB:136271 1344187 RDXP2 radixin pseudogene 2 8486357 5964 NG_000867,AC006210 GDB:136272 pseudo 1319692 REC8 REC8 homolog (yeast) This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. 1580863 10207075,16344560,15935783,15489334,15125634,14702039,12759374,12667442,12477932 9985 NM_001048205,NM_005132,AL136295,CH471078,AA496891,AF006264,AK001435,AK291191,AL832973,BC004159,BC010887,BC019326,CR457263,CR596261,CR597987,CR609880,DB294585 NP_001041670,NP_005123,EAW66089,EAW66090,EAW66091,AAD01193,BAA91690,BAF83880,CAH56339,AAH04159,AAH10887,AAH19326,CAG33544,O95072,Q658V5 Hs.419259 HR21spB|MGC950|REC8L1|Rec8p rec8-like 1 (yeast) protein-coding 1318851 RECK reversion-inducing-cysteine-rich protein with kazal motifs The protein encoded by this gene is a cysteine-rich, extracellular protein with protease inhibitor-like domains whose expression is suppressed strongly in many tumors and cells transformed by various kinds of oncogenes. In normal cells, this membrane-anchored glycoprotein may serve as a negative regulator for matrix metalloproteinase-9, a key enzyme involved in tumor invasion and metastasis. 1580863 9789069,17714826,17628776,17583418,17443689,17329256,17328864,17262820,17233834,17033924,16951151,16791855,16377629,16103099,15328199,15164053,14702039,12810630,12738734,12477932,12438739,11747814,9789096 8434 NM_021111,AL138834,AL158830,CH471071,E13833,AK022897,AK292653,BC032240,BC050306,BC060806,BC137093,BX648668,CR593801,D50406 NP_066934,CAH70155,CAD13384,EAW58318,EAW58319,BAF85342,AAH60806,AAI37094,BAA34060,O95980,Q6P9E2 Hs.388918 GDB:9957488 ST15|hRECK protein-coding 1322333 RECQL RecQ protein-like (DNA helicase Q1-like) The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. 1580863 7961977,15886194,17953710,17483412,17227144,16540687,16520463,16260474,15899892,15489334,15096578,12477932,12419808,12419324,9168958,8056767,7607686,7527136,11799066 5965 NM_002907,NM_032941,AC006559,CH471094,AK291627,AV718094,AY157499,BC001052,BE794392,BT007119,D37984,L36140 NP_002898,NP_116559,EAW96434,EAW96435,EAW96436,EAW96437,EAW96438,BAF84316,AAO61939,AAH01052,AAP35783,BAA07200,AAA60261,P46063 Hs.235069 GDB:307451 RECQL1|RecQ1 protein-coding 1317096 RECQL4 RecQ protein-like 4 1580863,1599421 9878247,10319867,18449888,18270339,17184169,16949575,16678792,16617241,16214424,16141230,15964893,15960976,15489334,15317757,15221963,15146197,12952869,12838562,12734318,12673665,12601557,12477932,12016592,11032027,10779560,10552928,133085,15674334 1599421 9401 NM_004260,AB026546,AB026547,AC084125,CH471162,DQ176868,AB006532,BC011602,BC013277,BC020496,CN286060 NP_004251,BAA86899,EAW82070,EAW82071,AAZ85145,BAA74453,AAH11602,AAH13277,O94761 Hs.31442 GDB:9958846 RECQ4 protein-coding 1321946 RECQL5 RecQ protein-like 5 1580863 10710432,9878247,18003859,17003056,16344560,16169070,15489334,15241474,12477932,10471747 9400 NM_004259,NM_001003716,NM_001003715,AC087749,AF135183,CH471099,AB006533,AB042824,AB042825,AF193041,AK075084,AL136869,BC000570,BC005103,BC016911,BC042989,BC063440,AB042823,BI116483,CR533497,CR602281,CR615823,DB091647,EF560729 NP_004250,NP_001003716,NP_001003715,AAD43061,AAD43062,EAW89289,EAW89290,EAW89291,EAW89292,EAW89293,EAW89294,EAW89295,BAA74454,BAA95952,BAA95953,BAA95954,AAG22469,CAB66803,AAH00570,AAH05103,AAH16911,AAH63440,CAG38528,ABQ59039,O94762,Q6FIC9,Q6P4G0,Q8WYH5,Q9BSD6,Q9BW80,Q9H0B1 Hs.632229 GDB:9956629 FLJ90603|RECQ5 protein-coding 1313134 REEP1 receptor accessory protein 1 737633 15550249,18321925,16826527,16720576,16344560,16271481,15815621,15489334,15345747,14702039,12477932 737633 65055 NM_022912,AC009309,AC009408,CH471053,AB073662,AK022775,AK023172,AL080222,AY562239,BC064846,CR457301,DB078037 NP_075063,AAX93132,EAW99457,EAW99458,BAB14444,AAT70684,AAH64846,CAG33582,Q9H902 Hs.368884 C2orf23|FLJ13110|SPG31 chromosome 2 open reading frame 23 protein-coding 1346917 REEP2 receptor accessory protein 2 16271481,15550249,15489334,14702039,12477932,11161817,9373149,9110174,8619474,8125298 51308 NM_016606,AC113403,CH471062,AF070551,AF251041,AK056193,AK223611,AK290547,AK291101,AY562240,BC006218,CR609366 NP_057690,EAW62137,EAW62138,EAW62139,EAW62140,AAF63767,BAD97331,BAF83236,BAF83790,AAT70685,AAH06218,Q9BRK0 Hs.416090 C5orf19|SGC32445 protein-coding 1603350 REEP3 receptor accessory protein 3 17290275,16271481,15550249,15489334,15164054,12477932 221035 NM_001001330,AC022022,AC022387,AL607062,CH471083,CS320135,AK289976,AY562241,BC010040,BC018658,BC038724,BC057832,BC068557 NP_001001330,CAI40732,EAW54246,CAK96042,BAF82665,AAT70686,AAH10040,AAH18658,AAH57832,AAH68557,Q6NUK4,Q8WV73 Hs.499833 C10orf74 protein-coding 1315250 REEP4 receptor accessory protein 4 737633 17081983,16271481,15550249,15498874,15489334,14702039,12477932 737633 80346 NM_025232,AC105206,CH471080,AK025899,CR615788,CR616050,CR616321,CR618269,CR620176,CR620257,CR620416,CR621198,CR621818,CR625001,CR625559,AK025930,AK172846,AY562242,BC013048,BC050622,CR457353,CR591628,CR596798,CR598813,CR599739,CR602477,CR604085,CR604164,CR604636,CR609246,CR609300,CR609379,CR611281,CR614616,CR615507,AF218014 NP_079508,EAW63710,EAW63711,EAW63712,EAW63713,EAW63714,EAW63715,AAG17256,BAB15274,Q9H6H4,BAB15285,BAD18810,AAT70687,AAH13048,AAH50622,CAG33634 Hs.289063 C8orf20|FLJ22246|FLJ22277|PP432 protein-coding 1314440 REEP5 receptor accessory protein 5 16762630,16344560,16271481,15550249,15489334,12477932,8647449,1678319,1659692,1651563,1651562 7905 NM_005669,AC008536,AC008575,CH471086,CQ859774,AY562243,BC000232,BC065926,BX648005,CR603989,CR610004,CR613261,CR615263,CR615731,DA807043,M74090 NP_005660,EAW48993,EAW48994,EAW48995,CAH25937,AAT70688,AAH00232,AAH65926,AAA66351,Q00765 Hs.429608 C5orf18|D5S346|DP1|MGC70440|TB2 protein-coding 1319884 REEP6 receptor accessory protein 6 737633 16271481,16189514,15550249,15489334,14702039,12477932 737633 92840 NM_138393,AC027307,CH471139,AK058112,AY562244,BC008201 NP_612402,EAW69491,EAW69492,EAW69493,BAB71670,AAT70689,AAH08201,Q96HR9 Hs.76277 C19orf32|DP1L1|FLJ25383|TB2L1 protein-coding 737018 REG1A regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandomly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. 1580863 2332435,18289358,18259819,18024479,17990360,15952740,15778284,15765400,15628732,15489334,15340161,15211106,15166487,15022278,14508825,12477932,12369899,11796176,11396963,10662590,10625646,10526250,10348814,9823399,8961348,8654365,8348956,8333731,8110835,8070617,8020983,3908481,3665916,3541906,3345835,3108036,2963000,2764894,2525567,2493268,2394826,2226837,16189514 5967 AC017004,AC069387,CH471053,J05412,AF172331,AK291981,AW873911,BC005350,BC110438,BC118621,BM769434,M18963,M27190,NM_002909 Q4ZG28,NP_002900,AAX88842,EAW99576,EAW99577,EAW99578,AAA36559,AAD51330,BAF84670,AAH05350,AAI10439,AAI18622,AAA36558,AAA60546,P05451,Q0VFX1,Q2TBE1 Hs.49407 GDB:132455 ICRF|MGC12447|P19|PSP|PSPS|PSPS1|PTP|REG regenerating islet-derived 1 protein-coding 1346386 REG1B regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein) This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandomly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. 1580863 3541906,2963000,15489334,15340161,12477932,12369899,11796176,11396963,10625646,9814489,8961348,8654365,8549770,8348956,8333731,8110835,7607222,3908481,3665916,3108036,2764894,2525567,2493268,2394826,2332435,2226837 5968 NM_006507,AC017004,CH471053,D17291,L08010,M27189,BC027895,BM310513,CR450322,D16816 NP_006498,AAX88841,EAW99579,BAA04124,AAA18204,AAA60545,AAH27895,CAG29318,BAA04091,P48304,Q6ICS1 Hs.4158 GDB:342079 PSPS2|REGH|REGI-BETA|REGL protein-coding 1604065 REG3A regenerating islet-derived 3 alpha This gene encodes a pancreatic secretory protein that may be involved in cell proliferation or differentiation. It has similarity to the C-type lectin superfamily. The enhanced expression of this gene is observed during pancreatic inflammation and liver carcinogenesis. Multiple alternatively spliced transcript variants encoding the same protein have been described for this gene but the full length nature of some transcripts is not yet known. 1325291,8997243,17998566,16963458,16931762,16116631,15489334,12890698,12477932,11278730,10662590,9151782,8188210,8076648,7721106,7679928,1469087,16189514 5068 BC036776,D13510,M84337,S51768,X68641,NM_138937,NM_138938,AC069387,CH471053,D30715,L15533,X79988,AK291973,AY544128,AY544130,NM_002580 AAH36776,BAA02728,AAA36415,AAB24642,CAA48605,Q06141,Q53S56,ABM81643,ABM84823,NP_002571,NP_620354,NP_620355,AAX93047,EAW99570,EAW99571,EAW99572,BAA21104,AAA60020,BAF84662,AAT11159,AAT11161 Hs.567312 GDB:136839 HIP|INGAP|PAP|PAP-H|PAP1|PBCGF|REG-III|REG3 protein-coding 1351031 REG3G regenerating islet-derived 3 gamma 15815621,15777617,15556304,15489334,15340161,12975309,12477932 130120 NM_198448,AB161039,AC017004,CH471053,AB161037,AB161038,AI025191,AK292595,AY359047,AY428734,BC103852,BC103853,BC103854,BI792387,NM_001008387,CR541938 NP_001008388,NP_940850,BAD51395,AAX88840,EAW99580,EAW99581,BAD51394,BAD51396,BAF85284,AAQ89406,AAR88147,AAI03853,AAI03854,AAI03855,CAG46736,Q3SYE6,Q6UW15 Hs.447084 MGC118998|MGC118999|MGC119001|PAP1B|PAPIB|REG-III|UNQ429 protein-coding 1352664 REG4 regenerating islet-derived family, member 4 1580863 18187959,16918991,16710414,16401477,15788672,15489334,15340161,14702039,14550954,12819006,12477932,12455032,11311942 83998 NM_032044,AL359752,CH471122,CS288402,AF254415,AF345934,AK057107,AY007243,AY126670,AY126671,AY126672,BC017089,BF242936 NP_114433,CAI18971,CAI18972,CAI18973,EAW56711,EAW56712,EAW56713,EAW56714,CAK22302,AAK48435,AAK59869,AAG02562,AAM95598,AAM95599,AAM95600,AAH17089,Q5T3X5,Q9BYZ8,ABM82693,ABM85877 Hs.660883 GISP|REG-IV|RELP protein-coding 1602338 REGL regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat) 15556304,14702039,12477932,8549770,8333731 5969 AC069387,AK126561,D56494,D56495,NR_002714 AAX93046,BAA09543,BAA09544,Q53S57 Hs.584797,Hs.654603 GDB:141885 RS pseudo 1322580 REL v-rel reticuloendotheliosis viral oncogene homolog (avian) The REL gene encodes c-Rel, a transcription factor that is a member of the Rel/NFKB family, which also includes RELA (MIM 164014), RELB (604758), NFKB1 (MIM 164011), and NFKB2 (MIM 164012). These proteins are related through a highly conserved N-terminal region termed the 'Rel domain,' which is responsible for DNA binding, dimerization, nuclear localization, and binding to the NFKB inhibitor (MIM 164008) (Belguise and Sonenshein, 2007 [PubMed 18037997]).[supplied by OMIM] 1580863,2292172 15799966,12761501,8423996,18466468,18434448,18089804,18037997,18006812,17335903,17243160,17011549,16896156,15870177,15660915,15578091,15551733,15146197,15143182,15024091,14961076,14744759,14743216,14615382,14534540,12829026,12588973,12556500,12511414,12478664,12477932,11967310,11830502,11830490,11587641,11254713,10706725,10602468,10562553,10329626,9950430,9837938,9769479,9731206,9639522,9510190,9135156,9058790,8666258,8621542,8547649,8415639,8413269,8413211,8152812,8139561,7933095,7929355,7886940,7862168,3529946,3016517,2666912,2155506,1891714,1740106,1727488,1650444,1620118,1577270,1549370,1437141,1406630 2292172 5966 NM_002908,AC010733,CH471053,DQ314888,L41414,M11595,AA279919,BC051005,BC117191,BX111941,CN414487,X75042 NP_002899,EAX00028,ABC40747,AAA52073,AAI17192,CAA52954,Q04864,Q17RU2 Hs.631886 GDB:119550 C-Rel protein-coding 1352761 RELA v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian) NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA, or RELB (MIM 604758) to form the NFKB complex. The p50 (NFKB1)/p65 (RELA) heterodimer is the most abundant form of NFKB. The NFKB complex is inhibited by I-kappa-B proteins (NFKBIA, MIM 164008 or NFKBIB, MIM 604495), which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the I-kappa-B proteins by kinases (IKBKA, MIM 600664, or IKBKB, MIM 603258) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NFKB complex. Activated NFKB complex translocates into the nucleus and binds DNA at kappa-B-binding motifs such as 5-prime GGGRNNYYCC 3-prime or 5-prime HGGARNYYCC 3-prime (where H is A, C, or T; R is an A or G purine; and Y is a C or T pyrimidine).[supplied by OMIM] 1580863,2292172 8441377,3091258,9437432,10521409,7739562,15465828,12761501,10747850,8717528,15876188,12924514,15790681,15616591,3140380,10723127,12048232,18466468,18434448,18314621,18215660,18215193,18201972,18178962,18174252,18172215,18163503,18163488,18061975,18045535,18040287,18037904,18036607,18035048,18034190,18025803,17982102,17962362,17959673,17947640,17911169,17904523,17889033,17720813,17707233,17675239,17660862,17631635,17626072,17622249,17611696,17590503,17586618,17537731,17525529,17521736,17493236,17478731,17468103,17452529,17439942,17403902,17374495,17362989,17317104,17301240,17258784,17255956,17242904,17207971,17196614,17167080,17158457,17136479,17085785,17079333,17070014,17054067,17041012,17012367,17003035,16998237,16982623,16966488,16940169,16931600,16829531,16785565,16735506,16728495,16723503,16608838,16584809,16573520,16497732,18059344,16497702,16477006,16410078,16407283,16322332,16285952,16243805,16214042,16186799,16135789,16105840,16081638,16052512,16046471,16034126,15988014,15975999,15935276,15917220,15913553,15905616,15885892,15849198,15845545,15746428,15718492,15682491,15671037,15657351,15599399,15556937,15543947,15499023,15498932,15489227,15484295,15256061,15246972,15231833,15226358,15205244,15200413,15167972,15155458,15140884,15130920,15128824,15093710,15079071,15073170,15073167,15029197,15016307,14970236,14966904,14716817,14711835,14690596,14688382,14657027,14624448,14623898,14600158,14600157,14593105,14587029,14576841,12482669,12477932,12473373,12429528,12427593,12419817,12419806,12398897,12377934,12350227,12213807,12181450,12173051,12167619,12138131,12134007,12080470,12077347,12067985,12057007,12055073,12052823,12040437,12040027,12027803,12019209,11983170,11980335,11971907,11967310,11964305,11953203,11922866,11833470,11827962,11813986,11739381,11704662,11684013,11591705,11590148,11579140,11564889,11526476,11522182,11511100,11385624,11299302,11278855,11241736,11160671,11114727,11044099,10995388,10938077,10935546,10928981,10903762,10849440,12485413,12972607,12881425,12842894,12829026,12820969,12767057,12748188,12736262,12707271,12700228,12690099,12673201,12665595,12651903,12628924,12618762,12606947,12606945,12589049,12581153,12559944,12556500,12553906,12540841,12517770,12509469,12504098,12493764,10799874,10777610,10777532,10671503,10671224,10660609,10644726,10644332,10580107,10542237,10498867,10490645,10488148,10480634,10446807,10400814,10393859,10384093,10357819,10336463,10225209,10207088,10075655,9990853,9865693,9837938,9792375,9738011,9730685,9724652,9660950,9584164,9570146,9566873,9560267,9548485,9525916,9510190,9468519,9278385,9250404,9150141,9110146,9096323,8834464,8798655,8746784,8724035,8709193,8676466,8649779,8642313,8627654,8626413,8615004,8550813,8423996,8413211,8281153,8246997,8207793,8188306,8113688,7933095,7907305,7886940,7859743,7838536,7800480,7729429,7706261,7690421,7659084,7494249,2006423,2001591,1732726,1583734,1505523,17023015,17031851,16189514,11931769,9482849,12618429,11533489,12672800,8816457,12693954,14769797,14743216,15355351,10847592,1740106,8670842,10562553,12244126,12393603,15657437,15485901,15994554,16007092,15845455,15660126,12917431,15616592,14685242,15315758,15383283,15775976,15494311,15735750,15652748,15125834 2292172 5970 NM_021975,AP001362,AY455868,CH471076,Z22948,Z22951,BC011603,BC014095,BC033522,BC069248,BC110830,CR590105,CR605571,CR615054,L19067,M62399 NP_068810,AAR13863,EAW74424,EAW74425,EAW74426,CAA80524,AAH11603,AAH14095,AAH33522,AAI10831,AAA20946,AAA36408,Q04206,Q2TAM5,Q96CP1,Q96F54 Hs.502875 GDB:128805 MGC131774|NFKB3 protein-coding 1353567 RELB v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian) 1580863,2292172 15799966,1577270,8188306,18466468,18434448,17900530,17823304,17446175,16960152,16951372,16902410,16551621,16261162,16107733,15596805,15489334,15315978,15265917,14743216,12874295,12820969,12505990,12485413,12482669,12477932,12473373,12427593,12365017,12167619,11833470,11827962,11704662,11687592,11579140,11522182,11511100,11385624,11299302,11241736,11160671,11044099,10799874,10671224,10644726,10644332,10580107,10540217,10480634,10446807,10400814,10393859,10384093,10225209,10207088,9792375,9730685,9566873,9525916,9510190,9278385,9110146,8834464,8724035,8709193,8676466,8627654,8615004,8441398,8207793,8183565,8113688,7859743,7838536,7800480,7729429,7690421,7494249,1583734,1531086,1505523,14678988 2292172 5971 NM_006509,AC011489,AF043463,CH471126,DQ314887,AK290594,AL583128,AW137991,BC028013,BI906507,CR607370,M83221 NP_006500,AAC82346,EAW57316,ABC40746,BAF83283,AAH28013,AAA36127,Q01201 Hs.654402 GDB:642139 I-REL|IREL protein-coding 1625842 RELL1 RELT-like 1 16389068,16344560,16303743,12477932 768211 NM_001085399,NM_001085400,AC027607,AC108022,CH471069,AI016583,AK025431,AK075468,BC039540,DA400382,DA491231 NP_001078868,NP_001078869,AAY41016,EAW92885,BAC11638,AAH39540,Q4W5D7,Q8IUW5 Hs.283378,Hs.708605 FLJ21778|MGC50583 protein-coding 1313209 RELL2 RELT-like 2 737633 12975309,16389068,16303743,15489334,14702039,12477932 737633 285613 NM_173828,AC008781,CH471062,AK054889,AK075064,AY358163,BC009560,BC027919,BC063469,CR600554,CR615264 NP_776189,EAW61911,EAW61912,EAW61913,EAW61914,BAC11380,AAQ88530,AAH63469,Q8NC24 Hs.120094 C5orf16|FLJ90583 chromosome 5 open reading frame 16 protein-coding 735880 RELN reelin This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. 1358567,1580863,1358346,1358468 18282107,17684500,17621165,17548821,17431900,17366345,17365098,17360894,17310238,16979599,16951405,16941662,16556465,16510495,16481437,16472607,16266828,15965968,15961543,15820235,15790807,15718228,15690491,15655250,15558079,17955477,17696989,15464360,15048648,15048647,15006702,14702039,14515139,12931209,12899622,12853948,12834112,12690205,12670700,12645087,12399956,12376533,12363388,12363196,12192627,12167620,12143388,12135781,12122039,12087179,12082559,11880184,11711858,11689558,11520926,11408330,11317216,11137154,10973257,10612399,10571241,10571240,10328932,9861036,9847074,9049633,7715726 1358567,1358346,1358468 5649 NM_173054,NM_005045,AC000121,AC002067,AC005064,AC005101,AC006316,AC006981,AC010126,AC073208,AC079918,AY101601,CH236947,CH471070,AK093843,AY927583,U79716 NP_774959,NP_005036,AAB46357,AAM49151,AAP22330,AAD29127,AAS02019,AAP22355,AAM51648,EAL24410,EAL24411,EAW83336,EAW83337,EAW83338,AAC51105,P78509,Q75MM8 Hs.655654 GDB:6380712 RL protein-coding 1313376 RELT RELT tumor necrosis factor receptor The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. 1580863 16950202,16547002,16389068,15489334,15340161,14702039,12477932,11313261 84957 NM_152222,NM_032871,AP000562,AP000763,CH471076,AF319553,AK027899,AK057036,AK074128,BC001812,BC017279,BC051810 NP_689408,NP_116260,EAW74892,EAW74893,EAW74894,EAW74895,EAW74896,EAW74897,EAW74898,AAK77356,BAB55441,BAB84954,AAH17279,AAH51810,Q969Z4,ABM83544,ABM86784 Hs.533720 GDB:11508046 FLJ14993|TNFRSF19L tumor necrosis factor receptor superfamily, member 19-like protein-coding 1315248 REM1 RAS (RAD and GEM)-like GTP-binding 1 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. 1580863 17686775,16648185,15489334,14623965,12477932,11780052,10831614,10441394 28954 NM_014012,AL121751,CH471077,AF084465,AF152863,BC039813,BT020078,BT020079,CR598485,CR626669 NP_054731,CAB90274,EAW76440,EAW76441,EAW76442,AAC33132,AAF74212,AAH39813,AAV38881,AAV38882,O75628,Q5TZR7,Q5TZR8,EAW76439 Hs.247729 GD:REM|GES|MGC48669|REM protein-coding 1342628 REM2 RAS (RAD and GEM) like GTP binding 2 68879 68879 50847 AL135998 733550 REM2 RAS (RAD and GEM)-like GTP binding 2 18056257,15728182,15489334,14702039,12477932,11181995,10727423 161253 NM_173527,AL135998,CH471078,AK096283,BC035663 NP_775798,EAW66231,BAC04746,AAH35663,Q8IYK8 Hs.444911 FLJ38964 rad and gem related gtp binding protein 2 protein-coding 736366 REN renin Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. 1580671,1580697,1580698,1581742,1581739,1598878,1579795,1580863 16036389,15914769,15914614,15662219,15489334,15368359,15075192,15015130,14530292,12933794,12862204,12854169,12736712,12695419,12684512,12613527,12569263,12556231,12544508,12477932,12473863,12431445,12431442,12394950,12186695,11967817,11903315,11847188,11803527,11800056,11776100,11751703,11409653,11224002,11098137,11015597,9933256,9928950,8901832,8735181,8494607,8387539,8344672,6398949,6391881,6324167,6138751,6091130,6089171,3542996,3530608,3516796,3297510,3288503,3066525,12045255,7584914,18325076,18260994,18259612,18212269,18205094,18202178,18192836,18188989,18175911,18091737,18077515,17785633,17703434,17693975,17660193,17562974,17546276,17485830,17476284,17455195,17416596,17158202,16990260,16940215,16933186,16790508,16710414,16672053,16615274,16446393,16396763,16375820,16189286,16138564,2960682,2540188,2493678,2450565,2203348,2186807,2061332,2017226,2016271,1608447,1597471,3032746 1580671,1580697,1580698,1581742,1581739,1598878,1579795 5972 AL592114,AL592146,AY436324,CH471067,EU332871,L00064,L00073,M10152,M13253,M15410,M26440,M26901,AF117822,BC033474,BC047752,CR536498,X00063,NM_000537 NP_000528,CAH71224,CAI16594,AAR03502,EAW91505,ABY87560,AAA60363,AAD03461,AAA60262,AAA60263,AAA60365,AAA60364,AAD26254,AAH33474,AAH47752,CAG38737,CAA24937,P00797,Q15296,Q6FI38,Q9UQK5 Hs.3210 GDB:120345 FLJ10761 renin 1 protein-coding 732186 RENBP renin binding protein The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. 1581740,1580863,1300048 9285790,16189514,15489334,12612874,12499362,12477932,12446192,12394950,11926999,11467860,11256614,11098137,9990133,9305888,9286695,8088804,7721097,6756682,3924907,1723410,1618798 1581740 5973 NM_002910,CH471172,D10711,U52112,BC015558,CR601292,D10232 NP_002901,EAW72771,EAW72772,AAH15558,BAA01082,P51606,ABM83196,ABM86397 Hs.158331 GDB:133792 RBP|RNBP renin-binding protein protein-coding 1344723 RENS1 Renpenning syndrome 1 7211958 5974 GDB:9806348 1353425 RENS2 Renpenning syndrome 2 (Renpenning-like syndrome) 5975 GDB:9806349 1347617 REPIN1 replication initiator 1 737633 10606657,16924111,16344560,15489334,15146197,12853948,12477932,11328883,9373149,8355269,8125298,2247056,2174103 737633 29803 NM_013400,NM_001099695,NM_001099696,NM_014374,AACC02000108,AC005586,CH471173,AF201303,AJ245553,AK025356,AK225227,AK226081,AK292670,AL046625,BC000363,BC001760,CA449524,CN386958,CR597187,CX166683,CX756128,DB161182 NP_037532,NP_001093165,NP_001093166,NP_055189,EAL24474,EAL24475,AAS00385,AAS00386,EAW54114,EAW54117,EAW54118,EAW54119,AAF26712,CAB53100,BAF85359,AAH00363,AAH01760,Q9BWE0,ABZ92325 Hs.647086,Hs.709639 AP4|RIP60|ZNF464|Zfp464 protein-coding 1316142 REPS1 RALBP1 associated Eps domain containing 1 17273774,17143522,17081983,15489334,12621024,12477932,12364336,11750063,9422736,9395447,7623849,16189514 85021 AL590308,AL591033,CH471051,AA706721,AB209143,AF251052,AI879474,AJ420514,AL831900,AL832307,BC012764,BC021211,BC035286,CA424106,CR592162,NM_031922,AL121834 EAW47903,EAW47904,EAW47905,EAW47906,EAW47907,BAD92380,AAK34942,CAD38569,AAH12764,AAH21211,Q59GG6,Q5JWJ5,Q5JWJ6,CAI42879,NP_114128,CAI42873,CAI42874,CAI42875,CAI42876,CAI42877,CAI42878,Q5JWJ7,Q5JWJ8,Q5JWJ9,Q96D71,ABM84259,ABM86875 Hs.334603 GDB:11508461 RALBP1 protein-coding 1347143 REPS2 RALBP1 associated Eps domain containing 2 The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. 9928989,9422736,15707977,15455380,15184881,14702039,12775724,12771942,12149250,11882656,10557078,10393179 9185 NM_004726,NM_001080975,AL732371,AL929302,CH471074,AB208937,AF010233,AF511533,AF512951,AI221053,AK057127,AK097484 NP_004717,NP_001074444,CAI41286,CAO03550,EAW98922,EAW98923,BAD92174,AAC02901,AAM43933,AAM43953,Q59H22,Q5JNZ8,Q8NFH8 Hs.186810 GDB:9955191 POB1 protein-coding 1351700 RER1 RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) 737633,1580863 9309388,17668005,15489334,14702039,12477932 737633 11079 NM_007033,AL513477,CH471183,AF091071,AF157324,AJ001421,AK095750,AK289658,BC004965,BC025684,BT007224,CR456806,CR624368 NP_008964,CAI22604,CAI22605,CAI22606,CAI22607,EAW56109,EAW56110,EAW56111,EAW56112,EAW56113,EAW56114,AAC72940,AAF67490,CAA04754,BAF82347,AAH04965,AAP35888,CAG33087,O15258,Q5T091,Q5T092,Q5T094,Q6IBJ7,Q9P0H9 Hs.525527 RP4-740C4.2 protein-coding 1344336 RERE arginine-glutamic acid dipeptide (RE) repeats This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10814707,17081983,16713569,16710414,16344560,16303743,15302935,14702039,14645126,12766061,12477932,12107413,11782456,11331249,10729226,9455484 473 NM_012102,NM_001042682,AF041104,AL096855,AL356072,AL357552,AL357713,CH471130,AB007927,AB036737,AF016005,AF118275,AK074834,AK096094,NM_001042681,AL050176,BC009619,BC062342,CD674939,CD679363,CR618919,DA868444 NP_001036146,NP_036234,NP_001036147,AAC28264,EAW71598,EAW71599,EAW71600,EAW71601,BAA32303,BAA95898,AAC31120,AAD27584,Q5VY47,Q9P2R6 Hs.463041 GDB:9732372 ARG|ARP|ATN1L|DNB1|FLJ38775|KIAA0458 protein-coding 1349252 RERG RAS-like, estrogen-regulated, growth inhibitor 1580863 11533059,15489334,12477932 85004 NM_032918,AC007543,AC022334,CH471094,AF339750,BC007997,CR599509,CR614290,CR614972 NP_116307,EAW96345,EAW96346,AAK98530,AAH07997,Q96A58,ABM84118 Hs.199487 GDB:11507596 MGC15754 protein-coding 1602860 RERGL RERG/RAS-like 12477932 79785 NM_024730,AC073504,AC087320,CH471094,AK026308,BC042888,CR618874 NP_079006,EAW96384,EAW96385,EAW96386,BAB15439,AAH42888,Q9H628 Hs.115497 FLJ22655 protein-coding 1347756 REST RE1-silencing transcription factor This gene encodes a transcriptional repressor which represses neuronal genes in non-neuronal tissues. It is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells, and it is thought that this repressor may act as a master negative regular of neurogenesis. Alternatively spliced transcript variants have been described; however, their full length nature has not been determined. 1580863 12192000,7871435,7697725,18354483,18354482,18234667,17823282,17555596,17540862,17468742,17023429,16478988,16442230,16417580,16330548,16288918,16253247,15767543,15681389,15528196,15489334,15322094,15302935,15240883,15068239,14633990,14565956,12881722,12829700,12628452,12492469,12477932,12399542,11406295,10766169,10734093,10570134,10521596,10449787,9756936,8568247,15035981,15200951,16247481 5978 NM_005612,AB024498,AC069307,CH471057,AB209750,AF228045,BC017822,BC038985,BC132859,U13877,U13879,U22314 NP_005603,EAX05516,EAX05517,BAD92987,AAF61710,AAH17822,AAH38985,AAI32860,AAC50114,AAC50115,AAB17211,Q13127 Hs.631513 GDB:702138 NRSF|XBR protein-coding 735296 RET ret proto-oncogene This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. 1580863 7824936,8114939,18436345,18402529,18331611,18316596,18316595,18299477,18284634,18282654,18273880,18258924,18252215,18248681,18222320,18090939,18073307,18063059,18058472,17954268,17952863,17934909,17900235,17895320,17825269,17786355,17727338,17664273,17639058,17639057,17623957,17610518,17605401,17599050,17573899,17554617,17527003,17490619,17471236,17464312,17440194,17431108,17397038,17388787,17384213,17316110,17274802,17270543,17270245,17227125,17209045,17185892,17138574,17108762,17102080,17065770,17049487,17009072,16986122,16979782,16954442,16946010,16945332,16877807,16868135,16849523,16847065,16818057,16816022,16813162,16778204,16767674,16732321,16646689,16628270,16596053,16569669,16556802,16555159,16551639,16534860,16525712,16525057,16484222,16483615,16469774,16452504,16448984,16441254,16419493,16388093,16384843,16357163,16344560,16314641,16269442,16230779,16227613,16203990,16181547,16153436,16144862,16127999,16118333,16053382,16007166,15994200,15988377,15956201,15953945,15940252,15933516,15844786,15841388,15834508,15829955,15785245,15769183,15761501,15759212,15753666,15741265,15716612,15677445,15657578,15643606,15633231,15632018,15592804,15588985,15583857,15548547,15523405,15502856,15491993,15485908,15469971,12959980,15355438,15351743,15350625,15331579,15320968,15316058,15297606,15292360,15286081,15277225,15273715,15271413,15240857,15240649,15231654,15225646,15142370,15138456,15129804,15044950,14981541,14766744,14761598,14739491,14711813,14602786,14600022,14586073,14566559,14557473,14555929,14508694,12939698,12884527,12881714,12872262,12841548,12788868,12787916,12767512,12727845,12720532,12720173,12670889,12640453,12637586,12632375,12608895,12519890,12490841,12477932,12474140,12466368,12439935,12355085,12242309,12214285,12193298,12187076,12182058,12182057,12176011,12161537,12114746,12087092,12086152,12085189,12057919,12056817,12000816,11979448,11973622,11955539,11953748,11953745,11950855,11949835,11935126,11932334,11932300,11927965,11900218,11886862,11883863,11839664,11803116,11788682,11746981,11692159,11589684,11581189,11536047,11470823,11360177,11238493,11121408,11116144,11061555,10982477,10980597,10922382,10850414,10829012,10826520,10777380,10774729,10652352,10618407,10612852,10522989,10521317,10484767,8625130,8621380,8595427,8557249,8401580,8183561,8114938,8103403,8099202,8084609,7977365,7915165,7914213,7911697,7907913,7906866,7906417,7902707,7881414,7874109,7860065,7849720,7849700,7845675,7784092,7731689,7704557,7678053,7675449,7665556,7633441,7595169,7581377,7478523,6745938,3697657,3078962,3037315,2734021,2687772,2660074,2406025,2310396,2181380,1678508,1611909,1569189,1350670,10445857,10439047,10323403,10233362,10208419,10090908,10070972,10024437,9915833,9880212,9840920,9802801,9760196,9740802,9727738,9700200,9677065,9621513,9620546,9506724,9502784,9497256,9426223,9398735,9393871,9384613,9360560,9359036,9294615,9259198,9223675,9192898,9150387,9111993,9111992,9097963,9094028,9090527,9067749,9047384,9043870,8889548,8807338,8806699,8757765,8674117,8631863,8628282,8626834,16189514,9482105,15569713,9047383,11390647 5979 NM_020630,NG_007489,AC010864,AF032124,AF520975,AF520979,AF520983,AJ243297,CH471160,D00617,S80097,S80552,S83049,Y15743,NM_020975,AI472270,AK291807,AW297789,BC003072,BC004257,BE261914,BM661773,BM703293,BQ070075,BX332519,BX376396,DA100452,DA911581,H24956,X15262,Y12528 NP_066124,NP_065681,AAB97168,AAM77275,AAM77279,AAM77283,CAB46483,EAW86576,EAW86577,EAW86578,EAW86579,EAW86580,EAW86581,EAW86582,EAW86583,EAW86584,AAB47046,AAB47047,AAB50647,AAD14423,CAA75753,BAF84496,AAH03072,AAH04257,CAA33333,CAA73131,O43519,P07949,Q15850,Q2VJ45,Q8IZR8,Q8NFE8,Q99886,Q9BTB0,Q9BTX6,Q9UE13,Q9UM84,Q9UM90,Q9UMQ4,Q9UQV8 Hs.350321 GDB:120346 CDHF12|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1|RET51 protein-coding 1349693 RETN resistin This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. 1624968,1580863 18440081,18283268,18280066,18257120,18239575,18180399,18167137,18059079,18023360,17967974,17924842,17785630,17727677,17705672,17698599,17635339,17598818,17565416,17526982,16478779,16418168,16395259,16394091,16313475,16159596,16143861,16137686,16087164,16061827,16039994,15983036,15956078,15944845,15928242,15886251,15864531,15862282,15843582,15842513,15798953,15757855,15754730,15741250,15705777,15598689,15545519,15533384,15526156,17525801,17445546,17441314,17392006,17384443,17384338,17383891,17374708,17365928,17327348,17299113,17287419,17223990,17208941,17207388,17184143,17178123,17177135,17175295,17148667,17067553,16934751,16921786,16822679,16756630,16721825,16685503,16675483,16670163,16608899,16586545,16532325,16525810,16496121,15517149,15489334,15338456,15326567,15248836,15221446,15130511,15111497,15070954,15064728,15055467,14967374,14740159,14733921,14715842,14697240,14688155,14687894,14671216,14602788,14557464,14521959,14514348,12975309,12965109,12874180,12829623,12730330,12700889,12679465,12660880,12647275,12629116,12504108,12502516,12477932,12213908,12213907,12050208,11994397,11978666,11901161,11872693,11872692,11809189,11558907,11358969,11209052,11201732,11090083,10921885,8211113 1624968 56729 NM_020415,AC008763,AF352730,CH471139,DQ301958,AF205952,AF290874,AF323081,AY207314,AY359066,BC069302,BC101554,BC101560 Q9HD89,AAI01561,NP_065148,AAK18621,EAW69015,EAW69016,ABB96251,AAG02144,AAK83106,AAG59824,AAO38860,AAQ89425,AAH69302,AAI01555 Hs.283091 ADSF|FIZZ3|MGC126603|MGC126609|RETN1|RSTN|XCP1 protein-coding 1345045 RETNLB resistin like beta 1580863 11209052,16427636,15489334,15064728,14598255,12975309,12574343,12477932,12224133,11090083,10921885 84666 NM_032579,AC092185,AF352731,CH471052,AF290873,AF323084,AM050721,AY358655,BC069318,BC113502,BC113528 NP_115968,AAK18622,EAW79719,AAK83105,AAG59827,CAJ19371,AAQ89018,AAH69318,AAI13503,AAI13529,Q2UXL7,Q9BQ08 Hs.307047 FIZZ1|FIZZ2|HXCP2|RELM-beta|RELMb|RELMbeta|XCP2 protein-coding 1351972 RETNLG resistin like gamma 373068 AJ514933 731874 RETSAT retinol saturase (all-trans-retinol 13,14-reductase) 15358783,16303743,15815621,15489334,14702039,12975309,12477932,9373149,8125298 54884 NM_017750,AC062037,AC093162,CH471053,CQ783381,AK000303,AK075261,AK225305,AL833237,AY358568,BC011418,BC068517,CR590025,CR615429,CR623428 NP_060220,AAY24126,AAY24096,EAW99530,EAW99531,EAW99532,EAW99533,CAF86585,BAA91069,BAC11505,AAQ88931,AAH11418,AAH68517,Q6NUM9 Hs.440401 FLJ20296 protein-coding 1315491 REV1 REV1 homolog (S. cerevisiae) This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found. 1580863 10536157,11485998,18470628,18270339,16824193,16803901,16495473,15815621,15609317,15380106,15189446,14702039,14657033,12930947,12529368,12477932,11278384,10906324,10760286,10094488,8889548 51455 NM_016316,NM_001037872,AC018690,CH471127,AB047646,AF151538,AF206019,AF357886,AJ131720,AK002087,AK025176,BC037734,BC130411,BM683065,CR618059 NP_057400,NP_001032961,AAY24314,EAX01860,EAX01861,EAX01862,EAX01863,BAB21441,AAF06731,AAF18986,AAK43708,CAB38231,BAA92079,AAH37734,AAI30412,Q49AI5,Q9UBZ9 Hs.443077 GDB:11503040 FLJ21523|MGC163283|MGC26225|REV1L rev1-like (yeast) protein-coding 1316069 REV3L REV3-like, catalytic subunit of DNA polymerase zeta (yeast) 1580863 9618506,17081983,16094384,15189446,14574404,12717825,12459444,11485998,11115544,10856253,10660610,10575223,10102035,9925914,9635887 5980 AL080317,AL136310,AL512325,CH471051,AB209256,AF004713,AF035537,AF058701,AF071798,NM_002912,AF078695,AF157476,AF179428,AF179429,AF303220,AL096744,BC035823,BE645210 NP_002903,CAI19192,CAI20509,CAI20998,EAW48292,EAW48293,EAW48294,BAD92493,AAF21598,AAB88486,AAC24357,AAC24009,AAC28460,AAD40184,AAG09402,AAG09403,CAB62529,AAH35823,O60673,Q59G53,Q5T0X9,Q5TF36,Q8IWK0,Q9UG47,Q9UID5 Hs.232021 GDB:9863226 POLZ|REV3 protein-coding 1320447 REXO1 REX1, RNA exonuclease 1 homolog (S. cerevisiae) 737633 15489334,15302935,12943681,12477932,10574461 737633 57455 NM_020695,AC012615,CH471139,AB032964,BC016923,BC032244,CR593335 NP_065746,EAW69450,EAW69451,BAA86452,AAH16923,AAH32244,Q05DB0,Q8N1G1 Hs.192477 ELOABP1|EloA-BP1|KIAA1138|REX1|TCEB3BP1 transcription elongation factor b polypeptide 3 binding protein 1 protein-coding 1606670 REXO1L1 REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 17699833,12477932 254958 NM_172239,AC093331,AF023669,AF495523,BC113453 NP_758439,AAC98149,AAN77012,AAI13454,Q8IX06 Hs.535056,Hs.373854 GOR protein-coding 1602385 REXO1L2P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 2 (pseudogene) 12477932 441362 NR_003594,AF279874,BC112074 AAI12075,Q2M281 Hs.535056 GOR pseudo 1602387 REXO1L3P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3 (pseudogene) 441359 XM_496981,AC093331 XP_496981 protein-coding 1602386 REXO1L5P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 5 (pseudogene) 441361 XM_496983,AF279874 XP_496983 protein-coding 1601906 REXO1L6P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6 (pseudogene) 401467 XM_376784,AF279874 XP_376784 protein-coding 1602384 REXO1L7P REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 7 (pseudogene) 441363 XM_496985 XP_496985 protein-coding 1603665 REXO2 REX2, RNA exonuclease 2 homolog (S. cerevisiae) Nucleases are components of DNA and RNA metabolism that carry out functions in DNA repair, replication, and recombination and in RNA processing and degradation. SFN is a homolog of Orn, a 3-prime-to-5-prime exoribonuclease of E. coli that attacks the free 3-prime hydroxyl group on single-stranded RNA, releasing 5-prime mononucleotides in a sequential manner.[supplied by OMIM] 10851236,18023590,16381901,15592455,15489336,15489334,15362935,14702039,12477932,11256614,11230166,11076863,10810093,9373149,8125298 25996 NM_015523,AP002373,CH471065,AF151872,AK023498,AK223200,AL110239,BC003502,BC066947,BC105024,BC105026,BC107887,CR533500 NP_056338,EAW67249,EAW67250,AAD34109,BAD96920,CAB53690,AAH03502,AAI05025,AAI05027,AAI07888,CAG38531,Q0JVD0,Q9BTR4,Q9Y3B8,CAL37530 Hs.7527,Hs.677190 CGI-114|DKFZP566E144|MGC111570|REX2|RFN|SFN protein-coding 1314713 REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae) 1580863 10908561,11256614,16381901,15489336,15489334,15164053,14702039,12477932,12429849,11230166,11076863,9325058,16189514 57109 NM_020385,AL158826,CH471090,AF273304,AF295774,AK000247,AK025493,AL136894,BC009274,BC071691,CR591994,CR597347 NP_065118,CAI12845,CAI12847,CAI12848,CAI12849,EAW88082,AAF98162,AAG02123,BAB15152,CAB66828,AAH09274,Q0JVG5,Q9GZR2,CAL37495,ABM82837,ABM86022 Hs.438409 GDB:5586950 REX4|XPMC2|XPMC2H protein-coding 1353491 RFC1 replication factor C (activator 1) 1, 145kDa The protein encoded by this gene is the large subunit of replication factor C, which is a five subunit DNA polymerase accessory protein. Replication factor C is a DNA-dependent ATPase that is required for eukaryotic DNA replication and repair. The protein acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It also may have a role in telomere stability. 1580863 8248204,8954124,16438930,9111189,9488738,9822671,18447718,18406541,18273817,18258338,18204969,18060320,18023275,18022874,17702010,17545166,17449906,17439323,17410198,17325736,17208363,17181924,17180579,17081983,16964243,16845273,16712703,16596679,16565220,16522921,16471213,16343969,16289162,16284371,16141796,16115349,16086047,16019224,15952116,15799025,15772763,15769366,15677700,15655353,15635413,15489334,15457444,15302935,15231126,15198953,15060097,15059614,15044114,14632302,14561664,12947101,12855225,12766176,12753319,12707400,12673279,12509469,12477932,12411325,12220650,12192049,12171929,12045192,11877377,11857541,10783165,10353443,9705493,9563011,9351817,9235961,9121429,8999859,8861969,8692848,8512577,8114700,7914507 5981 BC051751,BC051786,CR606083,L23320,L24783,X69821,X75917,NM_002913,AC023135,AC093855,AY600371,CH471069,AF040250,AJ564999,AK291612,BC010387,BC035297 AAH51751,AAH51786,AAA16121,CAA49475,CAA53517,P35251,Q14297,Q14756,ABZ92532,NP_002904,AAS94325,EAW92922,EAW92923,EAW92924,AAB99788,CAD92367,BAF84301,AAH35297 Hs.507475 GDB:285010 A1|MGC51786|MHCBFB|PO-GA|RECC1|RFC|RFC140 protein-coding 1348076 RFC2 replication factor C (activator 1) 2, 40kDa The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also called activator 1, is a protein complex consisting of five distinct subunits of 145, 40, 38, 37, and 36.5 kD. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP. Deletion of this gene has been associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 1313560,15655353,12791985,9111189,9488738,9822671,18245774,16413017,15635413,15489334,15096576,14605214,12930902,12853948,12766176,12477932,12192049,12171929,12036885,11907025,11003705,10783165,10051561,9228079,9121429,8812460,8692848,8651315,8093561,7774928 5982 NM_002914,NM_181471,AC005081,AF045555,AF483622,CH471200,AL560344,BC002813,BQ070526,BT007058,CR590546,CR610195,CR615462,CR616761,CR626780,M87338 NP_002905,NP_852136,AAP22334,AAP22335,AAC04860,AAL82503,EAW69605,EAW69606,EAW69607,EAW69608,AAH02813,AAP35707,AAB09786,P35250,Q75MT5 Hs.647062 GDB:283460 A1|MGC3665|RFC40 protein-coding 1315670 RFC3 replication factor C (activator 1) 3, 38kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kDa. This gene encodes the 38 kDa subunit. This subunit is essential for the interaction between the 140 kDa subunit and the core complex that consists of the 36, 37, and 40 kDa subunits. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 9488738,7774928,9111189,9822671,17456004,16344560,15635413,15489334,14702039,14605214,12930902,12766176,12477932,12192049,12171929,11907025,11572977,10884395,10051561,9373149,9228079,9121429,9092549,8692848,8441605,8125298 5983 NM_181558,NM_002915,AF484446,AL139081,AL160394,AL161891,CH471075,AA447424,AI221523,AK128459,AK222572,AL596753,BC000149,BQ022288,BT019668,BU618419,CR598980,CX786577,DA943219,L07541 NP_853536,NP_002906,AAL82505,CAH70947,EAX08537,EAX08538,BAD96292,AAH00149,AAV38474,AAB07268,P40938,Q53HK8,Q5U0C2,Q5W0E8,ABM81881,ABM85044 Hs.115474 GDB:389059 MGC5276|RFC38 protein-coding 1320871 RFC4 replication factor C (activator 1) 4, 37kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. 1580863 9488738,15504738,12791985,7774928,9111189,9822671,15655353,15635413,15489334,12930902,12766176,12736711,12509469,12477932,12192049,12171929,12045192,11907025,11572977,11486023,11326315,10353443,10329413,10051561,9396813,9228079,9121429,8692848,1351677,16189514,14605214 5984 CH471052,AA521171,BC017452,BC024022,BM837975,BT006987,CR536561,CR594581,CR604460,CR608475,CR616552,CR625223,NM_002916,NM_181573,AC112907,AF538718 ABM87354,EAW78169,EAW78170,EAW78171,AAH17452,AAH24022,AAP35633,CAG38798,P35249,ABM84404,ABM84469,ABM84732,AAM97933,NP_002907,NP_853551 GDB:283472 A1|MGC27291|RFC37 protein-coding 1319540 RFC5 replication factor C (activator 1) 5, 36.5kDa The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 36 kD subunit. This subunit can interact with the C-terminal region of PCNA. It forms a core complex with the 38 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 8999859,12791985,9111189,9488738,9822671,16169070,15635413,15489334,14702039,12930902,12766176,12477932,12237462,12192049,12171929,11907025,11572977,10051561,9751713,9396813,9228079,9121429,8692848,8441605,7774928,16189514,14605214,17353931 5985 NM_181578,NM_007370,AC131159,AY254323,AB208992,AK094575,AK290685,AK291107,BC001866,BC013961,BC020440,BM153733,CR407651,L07540 NP_853556,NP_031396,AAO63493,BAD92229,BAF83374,BAF83796,AAH01866,AAH13961,CAG28579,AAB09784,P40937,Q59GW7,Q6LES9 Hs.506989 GDB:389062 MGC1155|RFC36 protein-coding 1605818 RFESD Rieske (Fe-S) domain containing 12477932 317671 NM_173362,AC008547,CH471084,BC024023,BC035110,BC048979,CR624547 NP_775498,EAW96042,EAW96043,EAW96044,EAW96045,AAH24023,AAH35110,AAH48979,Q8TAC1 Hs.399758 protein-coding 1605590 RFFL ring finger and FYVE-like domain containing 1 15576038,15489334,15302935,15229288,15069192,14702039,12477932 117584 NM_057178,NM_001017368,AC004223,CH471147,AF434816,AK093112,AY098935,BC015681,BC028424,CK001659,CR933651 NP_476519,NP_001017368,EAW80172,EAW80173,EAW80176,EAW80177,EAW80178,AAL30771,BAC04059,AAM29181,AAH15681,AAH28424,CAI45952,Q8WZ73 Hs.13680 RIFIFYLIN|RNF189|RNF34L protein-coding 1313443 RFK riboflavin kinase 737633,1580863 12623014,15489334,14702039,14580199,12477932,9110174,8619474 737633 55312 NM_018339,AL391868,CH471089,AF038172,AK002011,AK123933,BC007069,BF979572,CR603745,CR615561,CR618476,DB531307 NP_060809,CAI40676,EAW62578,EAW62579,BAA92033,AAH07069,Q5JSG9,Q969G6 Hs.37558 FLJ11149|RIFK|RP11-422N19.2 protein-coding 1345692 RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 1302739,1580863 10341080,14702039,12477932,11165380,9187150,9110174,8619474 1302739 5986 NM_002917,AC135056,AF108139,CH471099,AF038196,AK094016,BC014495,BC035781,BC050399,BC069034,BC080181,BC146805,BF435018,CR591722,CR619678,U94353 NP_002908,AAD34321,EAW89735,EAW89736,EAW89737,EAW89738,EAW89739,EAW89740,BAC04269,AAI46806,AAC51359,Q8N9R1,Q9Y644 Hs.569700 GDB:9402413 radical fringe homolog (drosophila) protein-coding 1343182 RFP2OS ret finger protein 2 opposite strand 448961 AF529010 1348433 RFPL1 ret finger protein-like 1 1580863 15461802,12477932,10508838 5988 NM_021026,AC000041,CH471095,AJ010228,AJ010229,BC104768,CR456562 NP_066306,EAW59801,EAW59802,CAA09043,CAA09044,AAI04769,CAG30448,O75677,CAK54592,CAK54891,ABZ92533 Hs.648249 GDB:9864685 MGC132428|RNF78 protein-coding 1345884 RFPL1S ret finger protein-like 1 antisense 12477932,10508838 10740 NR_002727,AC000041,AJ010230,BC027468 Hs.167750 GDB:9864687 miscrna 1342537 RFPL2 ret finger protein-like 2 1580863 10508838,15489334,15461802,14702039,12477932,10591208 10739 NM_006605,NM_001098527,CH471095,AJ010231,AK055999,BC051910,BC069737,BC069827,CR456563,AL008723 NP_006596,NP_001091997,CAB51756,EAW60009,EAW60010,EAW60011,EAW60012,EAW60013,CAA09045,AAH51910,AAH69737,AAH69827,CAG30449,O75678,Q6NSX6,CAK54594,CAK54893,ABZ92534 Hs.157427 GDB:9864690 RNF79 protein-coding 1351885 RFPL3 ret finger protein-like 3 1580863 10508838,15461802,14702039,12477932,10591208 10738 NM_006604,NM_001098535,AL021937,CH471095,AJ010232,AK097738,BC031689,BC069753,CR456564 NP_006595,NP_001092005,CAB38256,CAI19583,EAW60019,CAA09046,AAH31689,AAH69753,CAG30450,O75679,Q8N5R4,CAK54595,CAK54894,ABZ92295 Hs.558455 GDB:9864692 protein-coding 1347346 RFPL3S ret finger protein-like 3 antisense 12477932,10508838 10737 NR_002596,NR_001450,AJ010233,BC031635,BC042824,BC066983,BC090926 Hs.274285 GDB:9864694 RFPL3ANT|dJ149A16.3 miscrna 1349182 RFPL4A ret finger protein-like 4A 11850190 342931 XM_292796,XM_001719234,XM_001718457,AC008749 XP_292796,XP_001719286,XP_001718509 Hs.631553 GDB:11508860 RFPL4|RNF210 protein-coding 1606355 RFPL4B ret finger protein-like 4B 14702039,12477932 442247 NM_001013734,AL365214,AK122906,BC132796,BC132798 NP_001013756,BAC85513,AAI32797,AAI32799,Q6ZWI9 Hs.448264 RNF211 protein-coding 1342907 RFT1 RFT1 homolog (S. cerevisiae) N-glycosylation of proteins follows a highly conserved pathway that begins with the synthesis of a Man(5)GlcNAc(2)-dolichylpyrophosphate (PP-Dol) intermediate on the cytoplasmic side of the endoplasmic reticulum (ER) membrane followed by the translocation of Man(5)GlcNAc (2)-PP-Dol to the luminal side of the ER membrane. RFT1 is the flippase enzyme that catalyzes this translocation (Helenius et al., 2002 [PubMed 11807558]).[supplied by OMIM] 737633,1580863 18313027,12477932,11807558 737633 91869 NM_052859,AC096887,CH471055,AJ318099,BC006846,BC043595,CR605993,CR613853,CR619807 NP_443091,EAW65277,EAW65278,CAC69544,AAH06846,AAH43595,Q96AA3 Hs.631910 protein-coding 1604380 RFTN1 raftlin, lipid raft linker 1 17081983,16344560,15489334,12805216,12477932,7788527 23180 NM_015150,AC010727,AC090948,CH471055,AK074446,AU138240,AY237654,BC006400,BC014032,BC032349,BC041884,BC051336,BC069209,BC098270,BC100667,BC100669,BC121795,CR626088,D42043 NP_055965,EAW64273,EAW64274,EAW64275,AAO91814,AAH06400,AAH14032,AAH32349,AAH41884,AAH51336,AAH69209,AAH98270,AAI00668,AAI00670,AAI21796,BAA07644,Q14699,Q49A99,Q5JB43,Q8N5I0,Q9BRA3 Hs.98910 FLJ23866|KIAA0084|MGC141678|MGC44480|MIG2|PIB10|PIG9|RAFTLIN protein-coding 1316421 RFTN2 raftlin family member 2 15815621,15489334,14702039,12477932 130132 NM_144629,AC020550,AC114800,CH471063,AK055136,BC039690,BC093966,BC111069,BC113361,BX647618 NP_653230,AAX93148,AAY24079,EAW70169,BAB70861,AAH93966,AAI11070,AAI13362,Q14DH4,Q52LD8 Hs.591615 C2orf11|FLJ30574|MGC117313|Raftlin-2 chromosome 2 open reading frame 11 protein-coding 1346229 RFWD2 ring finger and WD repeat domain 2 1580863 17968316,16931761,15492238,15103385,14739464,14702039,12615916,12477932,12466024,11461903,10395541 64326 NM_022457,NM_001001740,AL162736,AL359265,AL513329,AL590723,BK000438,CH471067,AF508940,AF527539,AK001278,AY509921,BC020845,BC039723,BC094728,BX537932,CD101686,CR607741,CR625231 NP_071902,NP_001001740,CAH73623,CAH73624,CAH73625,DAA01050,EAW90999,EAW91000,EAW91001,EAW91002,AAM34692,AAQ08989,AAS82851,AAH20845,AAH94728,Q05CT6,Q5VXD6,Q5VXD7,Q5VXD8,Q8NHY2 Hs.523744 COP1|FLJ10416|RNF200|RP11-318C24.3 protein-coding 1353893 RFWD2P ring finger and WD repeat domain 2 pseudogene 494517 1349611 RFWD3 ring finger and WD repeat domain 3 737633 17567985,15489334,14702039,12477932 737633 55159 NM_018124,AC109599,CH471114,AK001382,AK022673,AK291200,BC002574,BC059371,BM467919,BP872110 NP_060594,EAW95680,EAW95681,BAA91662,BAB14169,BAF83889,AAH02574,AAH59371,Q6PCD5 Hs.567525 FLJ10520|RNF201 protein-coding 1315268 RFX1 regulatory factor X, 1 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes of MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression of hepatitis B virus genes. 1580863 10642512,10330134,9733744,9583676,8661125,8600444,8413236,8224874,2253877,1508204,8289803,16464847,1505960,17630394,16289097,16287876,15528357,15489334,15334059,15302935,15024578,12624117,12477932,12411430,11986307,11682486,11358531 5989 X58964,A20498,NM_002918,AC020916,AC022098,CH471106,AI917511,BC049826,BM557928 CAA41730,P22670,CAA01506,NP_002909,EAW84387,AAH49826 Hs.655215 GDB:128776 EF-C protein-coding 1343231 RFX2 regulatory factor X, 2 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. 1580863 8289803,16189514,15229132,15024578,14702039,12477932,11986307,11682486,10330134,8889549,8661125,1505960 5990 NM_134433,NM_000635,AC005784,AC011444,CH471139,AI863426,AK024288,AK093977,AK291196,BC028579,BC071571,BX648130,CR601447,N23669,X76091 NP_602309,NP_000626,AAC62839,EAW69112,EAW69113,EAW69114,EAW69115,EAW69116,EAW69117,BAF83885,AAH28579,AAH71571,CAA53705,P48378,Q6IQ44,Q75MR3,Q8SNA2,ABM86238,ABW03697 Hs.465709 GDB:128777 FLJ14226 protein-coding 1317168 RFX3 regulatory factor X, 3 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Two transcript variants encoding different isoforms have been described for this gene, and at least one of the variants utilizes alternative polyadenylation signals. 8289803,12411430,16189514,15489334,15164053,15024578,12477932,11682486,10330134,8600444 5991 NM_002919,AL133549,AL354941,AL365202,AL603631,CH471071,AI811824,AK289540,AW152407,BC022191,BC067778,X76092,NM_134428 NP_602304,NP_002910,CAI40199,CAI40200,CAI40201,CAI40202,CAI41211,CAI41212,CAI41213,CAI41214,CAI41215,CAI41216,EAW58794,EAW58795,EAW58796,EAW58797,EAW58798,EAW58799,BAF82229,AAH22191,AAH67778,CAA53706,P48380,Q5JTM0,Q5JTM1,Q5JTM2,Q5JVQ5,Q5JVQ6,Q5T3F1,Q5T3F2,Q5T3F3 Hs.136829 GDB:371783 MGC87155|bA32F11.1 protein-coding 1354416 RFX4 regulatory factor X, 4 (influences HLA class II expression) This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. This protein may be a transcriptional repressor rather than a transcriptional activator. Three transcript variants encoding different isoforms have been described for this gene. 18218630,16271074,15940297,14701801,12925582,12477932,11682486,10706293,8600444,8289803,1603086,16189514 5992 NM_213594,NM_002920,NM_032491,AC009721,AC079385,CH471054,AB044245,AB095365,AB095366,AB195784,AB195785,AF332192,AI191585,AK074913,AK291445,AL833921,AY102009,BC028582,BC030644 NP_998759,NP_002911,NP_115880,EAW97782,EAW97783,EAW97784,BAB59001,BAE48231,BAE48232,BAE48237,BAE48238,AAK17191,BAC11288,BAF84134,CAD38777,AAM52484,AAH28582,AAH30644,Q33E94,ABM81757,ABM84912 Hs.388827 GDB:6288462 NYD-SP10 protein-coding 1323259 RFX5 regulatory factor X, 5 (influences HLA class II expression) A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. 1599742,1599743,1580863 16464847,9806546,17611194,16710414,15489334,15253423,15210800,12968017,12477932,12368908,11986307,11244040,10825209,10779326,10079298,10072068,9401005,9373149,9190936,9177217,9118943,8125298,7744245 1599742,1599743 5993 NM_000449,NM_001025603,NG_007576,AL391069,CH471121,AK223526,AL050135,BC017471,BX423384,CR625881,X85786 NP_000440,NP_001020774,CAH70327,EAW53446,EAW53447,EAW53448,BAD97246,CAB43285,AAH17471,CAA59771,P48382,Q53EW3,Q9UG77,ABM83308,ABM86520 Hs.709229 GDB:6288464 protein-coding 1322827 RFXANK regulatory factor X-associated ankyrin-containing protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. 1599746,1580863 9806546,16166641,15964851,15057824,12618906,12477932,11836625,11463838,11042152,10825209,10803838,10725724,10329666,10072068,8889548,17353931 1599746 8625 NM_003721,NM_134440,BC114563,BM682278,CR456981,CR542199,CR617522,CR622780,X75690,NG_007432,AC002126,AC003110,AD000812,CH471106,AF077196,AF094760,AF105427,AF105428,AW411361,BC114558 NP_003712,AAI14559,AAI14564,CAG33262,CAG46996,O14593,Q24JQ1,Q6FGA8,Q6IB23,AAB86654,EAW84795,EAW84796,EAW84797,EAW84798,EAW84799,AAD26991,AAC69883,AAD17972,AAD17973,NP_604389 Hs.153629,Hs.296776 GDB:9956049 ANKRA1|BLS|F14150_1|MGC138628|RFX-B protein-coding 1348538 RFXAP regulatory factor X-associated protein Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. 1580863 9118943,16337482,15781111,15210800,12477932,12136098,11463838,11244040,10825209,10072068,9806639,9287230,8717517,8290561 5994 NM_000538,NG_007876,AJ327174,AL159973,CH471075,Y12812,BC026088,BI823132 NP_000529,CAH71159,EAX08574,EAX08575,CAA73338,AAH26088,O00287,ABM82095,ABM84507,ABM85278 Hs.24422 GDB:9475355 protein-coding 1316716 RFXDC1 regulatory factor X domain containing 1 1580863 16189514,12477932 222546 NM_173560,AL355272,CH471051,BC039248 NP_775831,CAI23444,EAW48212,EAW48213,AAH39248,Q5T6B4,Q8HWS3 Hs.352276 MGC33442|dJ955L16.1 protein-coding 1603966 RFXDC2 regulatory factor X domain containing 2 15302935,14702039,12477932 64864 NM_022841,AC068726,AC084783,CH471082,AK023056,AK024757,AK126103,AK128045,AL832584,AL833367,AL834302,BC112936,DW009813 NP_073752,EAW77498,EAW77499,BAB14381,BAB14988,BAC86441,BAC87248,CAD38972,AAI12937,Q2KHR2,Q6ZRR1,Q6ZTY6,Q8N3J0,Q9H7A9,Q9H956 Hs.282855 FLJ12994|FLJ21104|MGC131836 protein-coding 1314894 RG9MTD1 RNA (guanine-9-) methyltransferase domain containing 1 737633,1580863 12477932,10508479 737633 54931 NM_017819,AC073861,CH471052,AF086243,AF155111,AF226052,AK000439,AY561707,BC035967,CR592390,CR594278,CR605158,CR606575,CR607864,CR617309,CR621828,CR626199 NP_060289,EAW79795,AAD42877,AAF86952,BAA91166,AAS66980,AAH35967,Q7L0Y3 Hs.643184,Hs.709879 FLJ20432 protein-coding 1319496 RG9MTD2 RNA (guanine-9-) methyltransferase domain containing 2 737633,1580863 12477932 737633 93587 NM_152292,AC083902,CH471057,AF106046,AK000332,BC028373,CR598027,CR598836 NP_689505,EAX06104,EAX06105,AAD21019,AAH28373,Q8TBZ6 Hs.380412 FLJ20325|MGC27034|TRM10 protein-coding 1321812 RG9MTD3 RNA (guanine-9-) methyltransferase domain containing 3 737633,1580863 14702039,12477932 737633 158234 NM_144964,AL138752,AL591470,CH471071,AK056017,AK092718,BC012175,BC057774,EC553146 NP_659401,CAI13881,CAI13882,EAW58265,EAW58266,EAW58267,EAW58268,EAW58269,BAB71074,BAC03957,AAH12175,AAH57774,Q6PF06 Hs.655614 FLJ31455|RP11-3J10.9|bA3J10.9 protein-coding 1352806 RGAG1 retrotransposon gag domain containing 1 16093683,15716091,15489334,12477932,10718198 57529 NM_020769,AC000113,CH471120,AB037739,AY121804,BC113670,BC117184 NP_065820,EAX02659,BAA92556,AAM82752,AAI13671,AAI17185,Q8NET4 Hs.201071 KIAA1318|MGC142230|Mar9|Mart9 protein-coding 1350874 RGAG4 retrotransposon gag domain containing 4 16093683,15772651,15716091,12056414 340526 NM_001024455,BX119917,AB082532,AL359579,BC151224 NP_001019626,CAI39851,BAC02710,CAB94872,AAI51225,Q5HYW3 Hs.512180,Hs.694084 6430402L03Rik|KIAA2001|Mar5|Mart5 protein-coding 1319015 RGL1 ral guanine nucleotide dissociation stimulator-like 1 1580863 10760592,10545207,15342556,12477932,10231032 23179 NM_015149,AF186798,AL137800,AL157899,AL590422,AL592299,CH471067,AB023176,AF186779,AF186780,AL080117,BC039250,BC136591,BP235344,BX537416,CR605009 NP_055964,AAG14400,AAG14401,CAI14720,CAI14724,EAW91165,EAW91166,EAW91167,EAW91168,BAA76803,AAF67280,AAF67281,CAB45716,AAI36592,CAD97658,Q5VU93,Q5VU94,Q7Z3U6,Q9NZL6 Hs.497148 KIAA0959|RGL protein-coding 1347432 RGL2 ral guanine nucleotide dissociation stimulator-like 2 1580863 8976381,16169070,15489334,14702039,12477932,11230166,10079301,9545376,9521053,8939933,15031288,16189514 5863 NM_004761,AL662820,AL662827,BX000343,CH471081,CR759786,CR759817,Z97184,AB012295,AK095967,AL050259,BC000316,BC005037,BC032681,BC040989,BX648015,D85757,U68142 CAI18118,CAI17521,CAI41832,EAX03708,EAX03709,EAX03710,EAX03711,EAX03712,EAX03713,EAX03714,CAQ08257,CAQ08027,BAA36193,NP_004752,CAB43361,AAH00316,AAH05037,AAH32681,AAH40989,BAA75926,AAC50818,O15211,Q4G0R5,Q54AJ0,Q5STJ9,Q5STK0,Q92942,Q96KK6,Q9BSI0,Q9BWF0 Hs.509622 HKE1.5|KE1.5|RAB2L protein-coding 1320262 RGL3 ral guanine nucleotide dissociation stimulator-like 3 737633 14702039,12477932,10869344 737633 57139 NM_001035223,AC024575,CH471106,AK057147,AK096811,BC014426,BC052242,BC064475,BC101756,BC111958 NP_001030300,EAW84209,EAW84210,EAW84211,EAW84212,AAH14426,AAI01757,AAI11959,Q3MIN7 Hs.375142 FLJ00153|FLJ32585|MGC126805|MGC138163 protein-coding 1606411 RGL4 ral guanine nucleotide dissociation stimulator-like 4 10591208,9178890,12874025,12477932,12140761,10851075,9154803 266747 NM_153615,AP000347,CH471095,AK131340,AY101396,BC101108,BC101109,BC101110 NP_705843,EAW59594,EAW59595,BAD18497,AAM51551,AAI01109,AAI01110,AAI01111,Q3ZCN2,Q495L7,Q495L8,Q6ZN78,Q8IZJ4 Hs.658997 MGC119678|MGC119680|Rgr protein-coding 1323724 RGMA RGM domain family, member A 737633 18367154,17606441,17472960,16381901,16303743,16216939,15489336,15489334,14702039,12477932,11230166,11076863 737633 56963 NM_020211,AC087641,CH471101,CQ783740,AK074910,AK074966,AK074980,AK125047,AK125204,AL136826,AL390083,BC015886 NP_064596,EAX02166,EAX02167,CAF86838,BAC11285,BAC11321,BAC11330,CAB66760,CAB98207,AAH15886,Q96B86,CAL37563,AAI46683 Hs.271277 RGM protein-coding 1350725 RGMB RGM domain family, member B 15671031,15489334,14985445,14702039,12477932 285704 NM_173670,AC008522,CH471084,CQ783726,AK054622,NM_001012761,AK074887,AK125284,BC020513,BC044231,BC067736,BG251558,BI763873 NP_001012779,NP_775941,EAW96093,EAW96094,EAW96095,CAF86831,BAC11268,AAH67736,Q6NW40 Hs.526902 DRAGON|FLJ90406|MGC86970 protein-coding 732128 RGN regucalcin (senescence marker protein-30) The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in two transcript variants having different 5' UTRs, but encoding the same protein. 15962315,15772651,15714273,15502314,15489334,15358188,12619687,12477932,11944989,10677570,10360682,9373149,8125298,7548213 9104 NM_152869,NM_004683,AL513366,CH471164,AB028125,AB032064,AK223360,AK290136,BC050371,BC058880,BC073173,D31815 NP_690608,NP_004674,CAI41697,EAW59279,EAW59280,BAA78693,BAA84082,BAD97080,BAF82825,AAH50371,AAH73173,BAA06602,Q15493 Hs.77854 GDB:9955055 RC|SMP30 regucalcin protein-coding 1323378 RGP1 RGP1 retrograde golgi transport homolog (S. cerevisiae) 737633 15489334,12477932,9039502 737633 9827 NM_001080496,AL133410,AK289566,BC001725,D87447 NP_001073965,CAI10984,BAF82255,AAH01725,BAA13388,Q5TCV5,Q92546 Hs.493804 KIAA0258 protein-coding 1602617 RGPD1 RANBP2-like and GRIP domain containing 1 16344560,15815621,15710750 400966 NM_001024457,AC111200,CR749330,DA725306,DC343949,DC353941,DC378175 NP_001019628,CAH18184 Hs.652430,Hs.652481,Hs.656849 RGP1 protein-coding 1605443 RGPD2 RANBP2-like and GRIP domain containing 2 17081983,15815621,15710750 729857 NM_001078170,AC093616,AC108479,AC109354,AY354203 NP_001071638,AAQ63888,Q68DN6,Q9NYL8 Hs.652481 NUP358|RANBP2L2|RGP2 protein-coding 1602139 RGPD3 RANBP2-like and GRIP domain containing 3 15815621,15710750 653489 XM_929931,AC097527,AC114755 XP_935024 RGP3 protein-coding 1602819 RGPD4 RANBP2-like and GRIP domain containing 4 15815621,15710750 285190 XM_001721299,AC009963,AC096655,BX537861 XP_001721351,CAD97866,Q7Z3J3 Hs.512050 DKFZp686P0288|RGP4 protein-coding 1601953 RGPD5 RANBP2-like and GRIP domain containing 5 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. 12905863,11774384,11230166,10101573,9480752,15815621,15710750,14702039 84220 NM_032260,NM_005054,AC013271,AB209082,AL044843,AL136868,BU631831,CA446006,CR936614,U64675 NP_115636,NP_005045,AAY14902,BAD92319,CAB66802,CAI56757,AAB41848,Q53T03,Q99666,AAI48414 Hs.469630 BS-63|DKFZp686I1842|RANBP2L1|RGP5 protein-coding 1603061 RGPD6 RANBP2-like and GRIP domain containing 6 15815621,15710750,14702039,9480752 729540 XM_001133591,NM_001123363,AC108938,AC109815,AK056675 XP_001133591,NP_001116835,AAY24132 Hs.645445 RGP6 protein-coding 1602942 RGPD7 RANBP2-like and GRIP domain containing 7 15815621,15710750,11230166,9480752 652919 NM_001037866,AC123886 NP_001032955,AAY14839,Q9H0B2,AAI56283 Hs.712500 RGP7 protein-coding 1601778 RGPD8 RANBP2-like and GRIP domain containing 8 9480752,15710750,12477932 727851 XM_001722279,AC112246,AC115115,AF012086,BC020901,BC037274 XP_001722331,AAC05596,O14715 Hs.469630,Hs.535589 GDB:7154719 RANBP2L1|RanBP2alpha protein-coding 1319366 RGR retinal G protein coupled receptor This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863,1599623 16189514,8641686,17679941,16737970,15489334,12843338,12573668,12542842,12477932,11723126,11274198,10581022,7947717,7789419 1599623 5995 NM_001012720,BX641033,U14910,NM_001012722,AC022389,CH471142,U15790,BC008094,BC011349,BC027987,BC042536,BG912392,NM_002921 NP_002912,NP_001012738,AAA56748,P47804,Q96HT6,ABM83000,ABM86193,NP_001012740,EAW80354,EAW80355,EAW80356,EAW80357,EAW80358,AAB92384,AAH08094,AAH11349 Hs.1544 GDB:439338 protein-coding 735445 RGS1 regulator of G-protein signaling 1 This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. 69961,1580863 10747990,10480894,8241276,18311140,16710414,16565322,15728464,15489334,14702039,12477932,11520900,11251075,10760272,9774420,9174164,8602223,8473738 69961 5996 NM_002922,AL136987,CH471067,AA962409,AF493925,AK093544,AL039059,BC015510,BG536972,BT006668,BU783195,X73427 NP_002913,EAW91226,EAW91227,EAW91228,AAM12639,AAH15510,AAP35314,CAA51826,Q08116,ABM81577,ABM84757 Hs.75256 GDB:439178 1R20|BL34|IER1|IR20 protein-coding 737086 RGS10 regulator of G-protein signaling 10 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. 1580863 17353931,17881498,16511171,16341674,15482592,12477932,12062898,11955952,11443111,10791963,10747990,10608901,9353196,9207071,8774883,16189514 6001 NM_001005339,NM_002925,AC012468,AL355273,AL592286,CH471066,AF045229,AF368902,AF493934,AI219612,AK290773,AL547312,AV707839,BC009361,BF685740,BG763741,BM782346,BM914660,CB112318,CB124184,CR457008,CR592645 NP_001005339,NP_002916,EAW49389,EAW49390,EAW49391,AAC03783,AAK52979,AAM12648,BAF83462,AAH09361,CAG33289,O43665,Q5T6B0 Hs.501200 GDB:9835684 protein-coding 1321340 RGS11 regulator of G-protein signaling 11 The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863 9789084,15616553,14702039,12477932,11829488,11157797,10339615,9315921 8786 NM_003834,NM_183337,AC004754,AE006463,CH471112,Z69667,AB016929,AB209582,AF035153,AF035154,AK091701,BC040504,BC141803,CR593949 NP_003825,NP_899180,AAK61221,EAW85839,EAW85840,EAW85841,EAW85842,EAW85843,CAI95581,CAI95582,CAI95583,BAA74751,BAD92819,AAC69175,AAC69176,BAC03726,AAH40504,AAI41804,O94810,Q4TT70,Q4TT72,Q59F78,Q8IWC5,Q8NB18,AAI48400,AAI53020 Hs.65756 GDB:9956944 RS11 protein-coding 731521 RGS12 regulator of G-protein signaling 12 This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. 17042716,15324660,12477932,12461749,12024043,11829488,11771424,11387333,11130074,10911908,9168931,8889548,9651375,10869340 6002 NM_198229,NM_002926,NM_198227,AF030149,AL590235,AL645949,CH471131,AF030109,AF030110,AF030111,AF030112,AF035152,AF464735,AF464736,AF464737,AI870015,AK123325,AK290805,AL831957,AL832522,AY987042,BC012118,BC028154,BC106944,BC118594,BE048490,BI861043,BM718427,BM984992,CB242608,CB529269 NP_937872,NP_002917,NP_937870,AAB96644,AAB96645,AAB96646,CAM21452,CAM21453,CAM21454,EAW82465,EAW82466,EAW82467,EAW82468,EAW82469,EAW82470,EAW82471,EAW82472,AAB84186,AAB84007,AAB84114,AAB84187,AAC39835,AAL69959,AAL69960,AAL69961,BAF83494,CAH10413,CAH10409,AAY26403,AAH28154,AAI06945,AAI18595,O14924,Q147X0,Q3B858,Q506M0,Q56A82,Q69YN1,Q8WX95,Q8WX96,Q8WX97 Hs.527061 GDB:9864740 DKFZp761K1617|DKFZp761K1817 protein-coding 1604849 RGS13 regulator of G-protein signaling 13 The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. 16710414,16565322,15489334,12970790,12477932,11875076,11829488,8602223 6003 NM_002927,NM_144766,AL136454,AL596119,CH471067,AF030107,AF493935,AY562947,BC016667,BC036950,BC056866,BT006929,CR536532,CR599001,CR610389 NP_002918,NP_658912,EAW91229,EAW91230,AAB84000,AAM12649,AAS66360,AAH16667,AAH56866,AAP35575,CAG38769,O14921,ABM92258,ABM92259,ABM84747,ABW03620 Hs.497220 GDB:9835727 MGC17173 protein-coding 733515 RGS14 regulator of G-protein signaling 14 This gene encodes a member of the regulator of G-protein signaling family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 9168931,16189514,15917656,15525537,15489334,14702039,12534294,12477932,11976690,11829488,11387333,10953050,10926822 10636 NM_006480,AC146507,CH471195,AF037194,AF037195,AF493936,AI623584,AK098150,AK123382,AY987041,BC014094,BI752372,CR607607 NP_006471,EAW85011,EAW85012,EAW85013,AAB92613,AAB92614,AAM12650,BAC85600,AAY26402,AAH14094,O43566 Hs.9347 GDB:9958072 protein-coding 1343291 RGS16 regulator of G-protein signaling 16 The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. 1580863 10747990,9469939,17635928,17613536,17347170,16344560,15998835,15489334,14634662,12642593,12642592,12588871,12477932,11602604,11522288,10878019,10836135,10791963,10760272,10373502,10072511,9271201,9223279,9079700,8917514,18262772,16189514 6004 NM_002928,AF009356,AL353778,CH471067,AF493937,AW193671,BC006243,BT006638,DA060276,DC349953,U70426,U94829 NP_002919,AAC39642,CAH72419,EAW91129,AAM12651,AAH06243,AAP35284,AAC16912,AAC52040,O15492,Q5VYN9 Hs.413297 GDB:5922935 A28-RGS14|A28-RGS14P|RGS-R protein-coding 1313587 RGS17 regulator of G-protein signaling 17 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. 1580863 15489334,15096504,14992813,14574404,12826607,12477932,11829488,10419452 26575 NM_012419,AL080276,AL356787,CS300704,AA902430,AF202257,AF493938,BC013117,BT006997,CK902282,AL356963,CH471051 NP_036551,CAI18900,CAK32368,AAF08978,AAM12652,AAH13117,AAP35643,Q9UGC6,EAW47711 Hs.166313 GDB:5967154 RGS-17|RGSZ2|hRGS17 protein-coding 1315187 RGS18 regulator of G-protein signaling 18 This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 16710414,16484797,15489334,14992813,14702039,12665801,12477932,11955952,11829488,11563974,11342430,11042171 64407 NM_130782,AL513175,AL596342,CH471067,CS300612,AF076642,AF268036,AK057114,AK292015,AV715708,BC020632,CR602825 NP_570138,EAW91223,CAK32276,AAF80227,AAK58589,BAF84704,AAH20632,Q9NS28,ABM82319,ABM85495 Hs.440890 GDB:11508550 RGS13 protein-coding 1353904 RGS19 regulator of G-protein signaling 19 G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. 1580863 9770488,8524874,9571244,18360038,15761153,15489334,15356268,12826607,12507475,12477932,11956658,11829488,11780052,11251075,11090272,10993892,10760275,10760272,10452897,10364213,10359779,9748280,9305927,8986788 10287 NM_001039467,NM_005873,AF217688,AL590548,CH471077,AF285097,AF493939,AK290081,AY585188,BC001318,BC054337,BC063010,BM554550,BT009804,CR457430,CR591868,CR591957,CR592870,CR595472,CR606250,CR613987,X91809 NP_001034556,NP_005864,AAG42352,CAD11902,EAW75166,EAW75167,AAM12653,BAF82770,AAS94232,AAH01318,AAH54337,AAH63010,AAP88806,CAG33711,CAA62919,P49795,Q6I9S5,Q9H2T9,ABM82130,ABM85313 Hs.422336 GDB:9955867 GAIP|RGSGAIP protein-coding 732360 RGS2 regulator of G-protein signaling 2, 24kDa 1580863 10747990,15609325,18360038,18347610,18316676,18262772,18249218,18230714,18067675,17901199,17728697,17558307,17294519,17244887,17220356,17143182,16895908,16736243,16710414,16691626,16685212,16627589,16449965,16432041,16189514,16169070,16003176,15917235,15793568,15536149,15489334,15383626,15375002,15362969,15292363,14608379,12885252,12604604,12564955,12477932,12356577,12176127,11330340,11278586,11063746,10982407,10791963,10760272,10072511,9794454,9405622,9174164,8673468,8602223,8179820,7643615,1702972,17353931 5997 NM_002923,AL035407,CH471067,L13391,AF493926,AY971351,BC007049,BC042755,BC044742,BT007065,CR457410,CR595811,CR598258,CR619003,L13463 NP_002914,CAB62512,EAW91231,EAW91232,AAA20680,AAM12640,AAY40361,AAH07049,AAH42755,AAP35728,CAG33691,AAC37587,P41220,Q49A86,Q6I9U5,ABM84104,ABM87477 Hs.78944 GDB:355647 G0S8 regulator of g-protein signaling protein 2 protein-coding 1312560 RGS20 regulator of G-protein signaling 20 Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM] 1580863 9748279,17353931,18360038,17126529,15489334,14872136,14702039,12826607,12477932,12414994,12379657,11882662,11829488,11735229,9748280,16189514 8601 NM_003702,AC100821,AC113194,CH471068,AF060877,AF074979,AF366054,AF366055,AF366056,AF366057,AF493940,AK094503,NM_170587,AY046538,BC015614,BC018618,BC031328,BC063490,CR594448,CR602987,CR622266 NP_733466,NP_003693,EAW86734,EAW86735,EAW86736,EAW86737,EAW86738,AAC62009,AAC62013,AAK54122,AAK54123,AAK54124,AAK54125,AAM12654,AAL03971,AAH15614,AAH63490,O76081 Hs.368733 GDB:9956005 RGSZ1|ZGAP1 protein-coding 1353958 RGS21 regulator of G-protein signaling 21 16302027,15066150 431704 NM_001039152,AL357566,AL390957,AY643711 NP_001034241,AAT64913,Q2M5E4,AAI48463,AAI53060 Hs.558673 protein-coding 1606803 RGS22 regulator of G-protein signaling 22 15489334,14702039,12477932 26166 NM_015668,AC021590,AP005356,CH471060,AK097399,AK292559,AL117544,AY009106,BC036665,BC047060,BC050053,BC092411 NP_056483,EAW91794,EAW91795,EAW91796,EAW91797,BAF85248,CAB55986,AAG49397,AAH36665,AAH47060,AAH92411,Q8NE09,Q9BYZ4 Hs.120021 DKFZp434I092|FLJ40080|FLJ75004|MGC102908|PRTD-NY2 protein-coding 731031 RGS3 regulator of G-protein signaling 3 This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTP-ase activating protein which inhibits G-protein mediated signal transduction. The protein is largely cytosolic, but G-protein activation leads to translocation of this protein to the plasma membrane. A nuclear form of this protein has also been described, but its sequence has not been identified. Multiple alternatively spliced transcript variants have been described for this gene but the full-length nature of some transcripts is not yet known. 69961,1580863 9858594,8602223,18287247,17300916,16855219,16821082,15489334,15383626,15164053,14702039,12477932,12210723,12036301,11985497,11330340,11301003,11294858,11034339,10749886,9373149,9344672,8125298,16189514,12198596 69961 5998 AF493927,AF493941,AK000377,AF490840,AK054584,AK074977,AK096840,AK123387,AK125059,AK125094,AK128127,AK222888,AK226153,AK289666,AY585192,BC018072,BC019039,BC042555,CR605994,CR616828,CR618862,U27655,NM_017790,NM_130795,NM_134427,NM_021106,NM_144489,AF006610,AL137066,AL162727,AL359455,CH471090,AF006609,AF463495,AF490838,AF490839,NM_144488 AAM33255,AAM12641,AAM12655,BAA91125,BAB70766,BAC11328,BAC86049,BAC87285,BAD96608,BAF82355,AAT79495,AAH18072,AAH19039,AAH42555,AAC50394,P49796,Q53GP3,Q5VXB8,Q5VXC0,Q5VZ06,Q6ZV17,Q8NFN6,Q8WV02,Q8WVE9,Q96NV5,Q9NX91,NP_652759,NP_060260,NP_570613,NP_602299,NP_066929,NP_652760,CAH70102,CAH70103,CAC78977,CAH70841,CAH70842,CAH70843,CAH73877,CAH73878,CAH73879,CAH73880,EAW87387,EAW87388,EAW87389,EAW87390,EAW87391,EAW87392,EAW87393,EAW87394,EAW87395,EAW87396,EAW87397,EAW87398,AAB62725,AAL68829,AAM33253,AAM33254 Hs.494875 GDB:6262039 C2PA|FLJ20370|FLJ31516|FLJ90496|PDZ-RGS3|RGP3 protein-coding 70082 RGS4 regulator of G-protein signaling 4 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. 69961,1580863 10747990,8602223,18434012,18262772,18204343,18198266,18031991,17722013,17707117,17588543,17410640,17408693,17301167,17220356,17106420,17092693,17055463,17006672,16905560,16904822,16860780,16791139,16710414,16631129,16604300,16526029,16508931,16380905,16344560,16246308,16176390,16082709,15660667,15489334,15383626,15381923,15369705,15274033,15182322,14755443,14732600,14702039,12920194,12840049,12642592,12564955,12477932,12436019,12422374,12023979,11904384,11507164,11428836,11297424,11148035,10982407,10869340,10791963,10784452,10767329,10685342,10608901,10387017,9754621,9748280,9674973,9660808,9576926,9405622,8756726,16189514,14634662 69961 5999 NM_001102445,NM_005613,NM_001113380,NM_001113381,AL583850,CH471067,AB209019,AF493928,AK093959,AK096204,AL137433,BC000737,BC051869,BI547160,BT007025,CR612216,DA253378,DA660018,DA660695,DC318279,DC334933,DQ346662,DQ346663,DQ346664,EF054877,U27768 NP_001095915,NP_005604,NP_001106851,NP_001106852,CAH73766,CAH73767,CAH73768,EAW90727,EAW90728,EAW90729,BAD92256,AAM12642,AAH00737,AAH51869,AAP35671,ABC94590,ABC94591,ABC94592,ABL74968,AAC50395,P49798,Q59GU0,Q5VUM3 Hs.386726 GDB:6262040 DKFZp761F1924|MGC2124|MGC60244|RGP4|SCZD9 regulator of g protein signaling 4 protein-coding 730866 RGS5 regulator of G-protein signaling 5 The regulator of G protein signaling (RGS) proteins are signal transduction molecules that have structural homology to SST2 of Saccharomyces cerevisiae and EGL-10 of Caenorhabditis elegans. Multiple genes homologous to SST2 are present in higher eukaryotes. RGS proteins are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators.[supplied by OMIM] 1580863 10471929,18262772,17939118,17762159,17220356,17100651,16710414,16381901,16344560,16293795,15670159,15489336,15489334,15459006,14755443,12477932,11253162,11230166,11076863,11009569,9747037,9079700 8490 AL451063,AL499616,AL583850,CH471067,AA486366,AA974387,AB008109,AF030108,AF113212,AF159570,AF172821,AF173551,AF176919,AF493929,AJ891044,NM_003617,AK026775,AL157502,AL600981,AU130764,BC029357,BC030059,BU187973,BX537427,CR597576,CR600297,CR609141,CR611218,CR613029,CR615447,CR617436,CR619141,CR625895 NP_003608,CAH71851,CAI15095,CAH73764,EAW90730,EAW90731,EAW90732,BAA22889,AAB84001,AAG39283,AAD40957,AAQ13615,AAQ13619,AAQ13663,AAM12643,CAI76926,AAH30059,CAD97669,O15539,Q599J0,Q5VUM7,Q7LCP5,Q9H3F2,CAL38745,ABM83064,ABM86258 Hs.709381 GDB:9955265 MST092|MST106|MST129|MSTP032|MSTP092|MSTP106|MSTP129 protein-coding 736970 RGS6 regulator of G-protein signaling 6 Members of the RGS (regulator of G protein signaling) family have been shown to modulate the functioning of G proteins by activating the intrinsic GTPase activity of the alpha (guanine nucleotide-binding) subunits.[supplied by OMIM] 1580863 16691626,15375002,14734556,14702039,12761221,12761220,12477932,12140291,10521509,10339615,7596406,10083744 9628 NM_004296,AC004828,AC005157,AC005226,AC005227,AC005477,AC005533,AC005857,AC005993,AF465726,AF465727,CH471061,AB209462,AF073920,AF073921,AF107619,AF107620,AF156932,AK125540,AY309097,AY309098,AY309099,AY309100,BC104877,BC113572,BX537512,DC343081,L40394 EAW81068,NP_004287,AAC83180,AAD05031,AAM03004,AAM03005,AAM03006,AAM03007,AAM03008,AAM03013,AAM03009,AAM03010,AAM03011,AAM03012,EAW81062,EAW81063,EAW81064,EAW81065,EAW81066,EAW81067,EAW81069,EAW81070,EAW81071,BAD92699,AAC26049,AAC26050,AAD34717,AAD34718,AAD40183,AAP74386,AAP74387,AAP74388,AAP74389,AAI04878,AAI13573,AAC42001,P49758,Q2M3K2,Q59FJ8,Q7Z4K3,Q7Z4K4,Q7Z4K5,Q7Z4K6,Q9UDS8,Q9UDT0 Hs.509872 GDB:9957824 DKFZp313G1241|FLJ43552|GAP|MGC142132 protein-coding 733586 RGS7 regulator of G-protein signaling 7 69958,1580863 16867977,16710414,16344560,15496508,14718574,12670932,12659861,12477932,12077120,11152459,11032900,10862767,10521509,10339615,10339594,10092682,10051672,9572280,8548815,16189514 69958 6000 NM_002924,AL359764,AL365184,AL512307,AL590682,AL592076,AL596082,CH471098,AF090116,AF090117,AF493931,AY587875,BC022009,CR614351,DA605226,DB542821,U32439,AF493930 NP_002915,CAI15140,CAI16818,CAI16824,CAH71987,CAH71988,CAH73810,EAW70086,EAW70087,EAW70088,EAW70089,AAD34290,AAD34291,AAM12644,AAM12645,AAT52231,AAH22009,AAC50351,P49802,Q5T3H5,Q5VTY3,Q8WW09,ABM81720,ABM84875,ABM84880 Hs.655739 GDB:5912686 protein-coding 1604905 RGS7BP regulator of G-protein signaling 7 binding protein 16867977,15632198 401190 NM_001029875,AC008854,AC035143,AC091862,CH471137,BX640900 NP_001025046,EAW51372,CAE45947,Q6MZT1 Hs.657133 R7BP protein-coding 737105 RGS8 regulator of G-protein signaling 8 This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. 1580863 15506959,15489334,15488175,14992813,14675160,12477932,12110731,11829488,11329013,11318611,18262772,16710414,15677457 85397 NM_033345,NM_001102450,AL353778,CH471067,AF297014,AF297015,AF300649,BC069677,BC069718,BC103865,BC103866,BC103867,BG195915,BX281622 NP_203131,NP_001095920,CAH72421,EAW91130,EAW91131,AAG45337,AAG18443,AAH69677,AAH69718,AAI03866,AAI03867,AAI03868,P57771,Q5VYN8 Hs.20982,Hs.458417 GDB:11507598 MGC119067|MGC119068|MGC119069 protein-coding 732260 RGS9 regulator of G-protein signaling 9 Members of the RGS family, such as RGS9, are signaling proteins that suppress the activity of G proteins by promoting their deactivation.[supplied by OMIM] 69964,1580863,1599999 9765512,17698770,15901556,15474482,14702087,14614075,12477932,12119397,11485301,10564809,9560279,8889548 69964,1599999 8787 NM_003835,NM_001081955,AC015821,AC060771,AF178070,AF178072,CH471099,AF071476,AF073710,AF493932,AF493933,AK289876,AK290535,AY585190,AY585191,BC022504,BC096843,BC117271,CD105605,CK300804,CR613211 NP_003826,NP_001075424,AAG09311,AAG09312,EAW88997,EAW88998,EAW88999,EAW89000,EAW89001,EAW89002,AAC64040,AAC25430,AAM12646,AAM12647,BAF82565,BAF83224,AAT79493,AAT79494,AAH22504,AAH96843,AAI17272,O75916,Q17RM2,Q4G1B2,Q4QRI4 Hs.664380 GDB:9956947 MGC111763|MGC26458|PERRS|RGS9L protein-coding 1601793 RGS9BP regulator of G protein signaling 9 binding protein 18318613,17698770,14702087,12560335,12119397,8889548 388531 NM_207391,AC008474,AF086461,AK124499,AK127646 NP_997274,BAC85865,BAC87072,Q6ZS82 Hs.528491 FLJ45744|PERRS|R9AP|RGS9 protein-coding 1353178 RGSL1 regulator of G-protein signaling like 1 1302836 12801632,12477932 1302836 353299 XM_001726587,XM_001721759,XM_001725941,AL138776,AL139344,AF508902,AF510428,AK128152,BC121032,BC121033,BC142944 XP_001726639,XP_001721811,XP_001725993,AAP30864,BAC87300,AAI21033,AAI21034,AAI42945,Q0VAJ4,Q0VAJ5,Q6ZRL0,Q86UV0 Hs.121200 RGSL2 protein-coding 1353853 RGSL2 regulator of G-protein signaling like 2 1302836,1580863 12801632,12651916,11230166 1302836 84227 NM_032267,AL139344,CH471067,AL136902,DB452397 NP_115643,EAW91125,EAW91126,EAW91127,CAB66836,Q9H084 Hs.558567 DKFZp434E169 protein-coding 731598 RHAG Rh-associated glycoprotein The Rh blood group antigens (MIM 111700) are associated with human erythrocyte membrane proteins of approximately 30 kD, the so-called Rh30 polypeptides. Heterogeneously glycosylated membrane proteins of 50 and 45 kD, the Rh50 glycoproteins, are coprecipitated with the Rh30 polypeptides on immunoprecipitation with anti-Rh-specific mono- and polyclonal antibodies. The Rh antigens appear to exist as a multisubunit complex of CD47 (MIM 601028), LW (MIM 111250), glycophorin B (MIM 111740), and play a critical role in the Rh50 glycoprotein.[supplied by OMIM] 1599622,1580863 15856280,12846905,12719424,9442063,1417776,9479501,17712059,16574458,16564724,16563829,16378686,16227429,15572441,14966114,12531814,12477932,12393442,12204676,12130520,11861637,11062476,10862620,10467273,9915949,9746795,9716608,9473510,9454778,8563755,3146980,16189514 1599622 6005 BC012605,BU664154,CR592572,CR621033,X64594,AB036993,AF031550,AF031551,AF061325,AF178842,AF178843,AF178844,AF179683,AF179686,AF237387,AL121950,AL590244,CH471081,AF031548,AF031549,AF178841,AF179682,AF179684,AF179685,AF187847,NM_000324 AAH12605,CAA45883,O43514,O43515,Q02094,Q96E98,Q9UBB8,Q9UHG8,Q9UHG9,Q9UHH0,Q9UHH1,Q9UHH2,Q9UK68,Q9UK69,Q9UK70,Q9UL98,Q9UP76,ABM83708,ABM87029,NP_000315,BAB00642,AAC04250,AAC04249,AAD34199,AAD56366,AAD56367,AAD56368,AAF23098,AAF23101,AAF78209,CAC10519,CAI13085,EAX04337,EAX04338,EAX04339,AAC04247,AAC04248,AAD54392,AAF23097,AAF23099,AAF23100,AAF04566 Hs.120950 GDB:136011 CD241|RH2|RH50A|Rh50|Rh50GP|SLC42A1 rhesus blood group-associated a glycoprotein protein-coding 1601951 RHBDD1 rhomboid domain containing 1 15815621,15489334,14702039,12838346,12477932 84236 NM_032276,AC010735,AC073149,CH471063,AK026955,AK074258,AK093986,AL512717,AL832364,AY640233,BC015553,BC027900,BC062636,BC071679,BC089404,BC101262,BC101263,BC101264,BC101265,BC111056 NP_115652,AAY24060,EAW70841,EAW70842,BAB85031,CAC21658,AAU14246,AAH27900,AAH62636,AAH89404,AAI01263,AAI01264,AAI01265,AAI01266,AAI11057,Q8TEB9 Hs.471514 DKFZp547E052|MGC117258 protein-coding 1317887 RHBDD2 rhomboid domain containing 2 16344560,15489334,14702039,12853948,12838346,12477932,9847074 57414 DB050147,NM_001040457,NM_001040456,AC005067,CH471220,AF226732,AK026590,BC006234,BC069017,BG707286,CR590707,CR591432,CR599872,CR600296,CR602396,CR603596,CR604000,CR605627,CR609399,CR610119,CR611490,CR612858,CR613112,CR620747,CR624338 Q6NTF9,Q9HBK7,Q9UDT1,NP_001035547,NP_001035546,AAD45959,AAD45960,EAW71773,EAW71774,EAW71775,EAW71776,AAG09733,BAB15503,AAH06234,AAH69017 Hs.488827 NPD007|RHBDL7 rhomboid, veinlet-like 7 (drosophila) protein-coding 1323487 RHBDD3 rhomboid domain containing 3 17117413,15489334,15461802,15105437,12529303,12477932,10591208 25807 NM_012265,AL031186,CH471095,AL050346,BC002705,BC018872,CR456411,CR457382,CR592918,CR593733,CR594348,CR606788 NP_036397,CAI18000,CAQ10930,CAQ10931,EAW59778,EAW59779,CAB43551,AAH02705,CAG30297,CAG33663,Q9Y3P4,CAK54402,CAK54701 Hs.106730 GDB:11504778 C22orf3|HS984G1A|PTAG protein-coding 1312890 RHBDF1 rhomboid 5 homolog 1 (Drosophila) 15965977,14702039,12477932,11157797,9373149,9054936,8318735,8125298 64285 NM_022450,AE006462,CH471112,CQ798836,DQ431198,Z69719,AK026010,AK056708,AK225408,AK291177,BC014425,M99624 NP_071895,AAK61212,EAW85873,EAW85874,EAW85875,EAW85876,CAG27587,ABD95905,CAI95607,CAI95608,BAB15318,BAF83866,AAH14425,AAA02490,Q04842,Q1W6H2,Q4TT59,Q96CC6,Q96S34,Q9H6E1 Hs.57988 C16orf8|Dist1|EGFR-RS|FLJ2235|FLJ22357|gene -89|gene -90|hDist1 rhomboid family 1 (drosophila) protein-coding 1320182 RHBDF2 rhomboid 5 homolog 2 (Drosophila) 15342556,15060002,14702039,12838346,12477932,10737800,9373149,8125298 79651 NM_024599,NM_001005498,AC015802,CH471099,AK025994,AK057882,AK074034,AK225684,AK292135,AK292166,AL833680,AY500247,BC016034,BC035829,BE076010,BM801831,BP288209 NP_078875,NP_001005498,EAW89401,EAW89402,EAW89403,EAW89404,BAB15310,BAB84860,BAF84824,BAF84855,AAS77567,AAH16034,AAH35829,Q5U607,Q5YGQ8,Q6PJF5,Q6ZWP8,Q9H6E9 Hs.464157 FLJ22341|RHBDL5|RHBDL6 rhomboid, veinlet-like 6 (drosophila) protein-coding 1347230 RHBDL1 rhomboid, veinlet-like 1 (Drosophila) 633866,1580863 9662444,15489334,12477932,11157797 633866 9028 NM_003961,AE006464,CH471112,Z92544,AJ272344,BC120874,BC120875,Y17108 NP_003952,AAK61241,EAW85760,EAW85761,EAW85762,CAM26349,CAM26350,CAC00640,AAI20875,AAI20876,CAA76629,O75783 Hs.137572 RHBDL|RRP protein-coding 1317987 RHBDL2 rhomboid, veinlet-like 2 (Drosophila) The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. 1580863 16710414,15489334,15047175,14702039,12820957,12477932,11672525 54933 NM_017821,AL139260,AL714019,CH471059,AK097621,AW080436,AY126343,BC013103,BC137110,BE876592,BX951305 NP_060291,CAI23052,EAX07288,AAM95697,AAH13103,AAI37111,Q9NX52 Hs.524626 GDB:11503046 MGC16997|RRP2 protein-coding 1352464 RHBDL3 rhomboid, veinlet-like 3 (Drosophila) 15489334,12477932,11900977 162494 NM_138328,AC005899,AC026620,CH471147,AJ313480,AK124570,AK127490,BC016953,BC100975,BC100976,BC100977,BC100978,BX647302 NP_612201,EAW80239,EAW80240,EAW80241,CAC86145,AAI00976,AAI00977,AAI00978,AAI00979,P58872,Q495Y4,Q495Y5 Hs.655027 GDB:11503047 FLJ45582|MGC119300|MGC119301|RHBDL4|VRHO protein-coding 1351825 RHBG Rh family, B glycoprotein RHBG and RHCG are non-erythroid members of the Rhesus (Rh) protein family that are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. Rh family proteins are all predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. 1580863 11024028,16710414,16227429,15929723,15611082,15489334,15284342,14702039,12477932,11358367,10852913 57127 NM_020407,AF219980,AL139130,AL589685,CH471121,AF193807,AK054780,AK290840,AY139092,AY139093,BC065218 NP_065140,AAL05978,CAI12177,CAI12178,CAI12179,CAI12180,CAI14174,CAI14175,CAI14176,CAI14177,EAW52959,EAW52960,EAW52961,EAW52962,EAW52963,AAG01086,BAF83529,AAN34363,AAN34364,AAH65218,Q5SZW4,Q5SZW5,Q6YJI3,Q9H310 Hs.131835 GDB:11507600 SLC42A2 protein-coding 1604848 RHCE Rh blood group, CcEe antigens The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. 17900276,17298125,17140342,17080665,16722361,16584906,16563829,15783300,15373666,15023184,14996199,14996197,12857961,12477932,12393640,12201845,12084173,12084172,11902138,11861637,11724987,11493738,11436564,11380456,11161244,10938938,10924335,10627438,9657769,9490704,9087447,8900235,8889548,8822955,8808597,8220426,8188244,8117271,7916743,7789951,3146980,3135863,2123099,2045679,1907207,1900257,1898705,1696722,1379850,1438298,18460195 6006 NM_138617,NM_138618,NM_020485,NG_003255,AB016499,AB016502,AF056966,AF056967,AF390114,AJ276017,AJ295346,AJ504793,AJ867774,AL031284,AL928711,AM072761,AM182448,AM182449,AM183925,AM183927,NM_138616,DQ178642,DQ266353,DQ266400,DQ322275,M34015,S57967,X54534,X63095,X63096,X63098,BM684087,AM260938,BN000065,CH471134,S70456,U66340,Z97333,AB018644,AB018645,AB030388,AB049753,AF056965,AF510065,AF510066,AF510067,AF510068,AY603478,BC075081,BC139905 NP_619522,NP_619523,NP_619524,NP_065231,BAA36694,BAA36696,AAC18093,AAC18094,AAM46623,CAC81665,CAC51514,CAD43297,CAI30430,CAH72604,CAH72605,CAH72606,CAH72607,CAJ27264,CAJ58683,CAJ58684,CAJ75454,ABA25912,ABB97471,ABB69097,ABC55358,AAA36567,AAB26080,CAA38401,CAA44809,CAA44810,CAA44812,O43811,P18577,P78522,Q0KHB9,Q1EL80,Q1KT13,Q2A683,Q2A685,Q2MCP1,Q2MCP2,Q2MJW0,Q2VC86,Q2YHU7,Q3LTM6,Q5NDM6,Q5VSJ7,Q5VSJ8,Q5VSJ9,Q6AZX5,Q6J2U3,Q6ZSC4,Q7RU06,Q8IZT2,Q8IZT3,Q8IZT4,Q8IZT5,CAJ98536,CAD29850,EAW95162,EAW95163,EAW95164,EAW95165,EAW95166,EAW95167,AAD14061,AAB39601,CAB10169,BAA33927,BAA33928,BAA82627,BAB16597,AAC18092,AAN75121,AAN75122,AAN75123,AAN75124,AAT35811,AAH75081,AAI39906,CAJ75456,Q8NFY0,Q96KU1,Q8NDV4,Q96QG8,Q9UD15,Q9UD16,Q9UD73,Q9UEC6,Q9UEC7,Q9UP89,Q9UP90,Q9UP91,Q9UPN0 Hs.449968,Hs.647623 GDB:229957 CD240CE|MGC103977|RH|RH30A|RHC|RHE|RHIXB|RHPI|Rh4|RhIVb(J)|RhVI|RhVIII protein-coding 1345053 RHCG Rh family, C glycoprotein 14761968,12846905,12719424,10852913,12204676,12388412,18367154,16580862,16564724,16477434,16227429,15929723,15489334,12477932,11062476,1417776 51458 NM_016321,AC013391,AF219986,AF284446,CH471101,AF081497,AF193809,AK290899,AY257182,BC015461,BC030965,CR597827,CR597837 NP_057405,AAG02171,AAG02414,EAX02051,EAX02052,AAD55748,AAF19372,BAF83588,AAP81044,AAH30965,Q9UBD6 Hs.459284 C15orf6|PDRC2|RHGK|SLC42A3 rhesus blood group, c glycoprotein protein-coding 736735 RHD Rh blood group, D antigen The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 1438298,18426681,18027815,17900276,17497744,17204201,17196520,17036929,16934070,16722361,16584906,16584438,16584437,16510313,16181207,16181204,15987365,15754970,15373666,15318849,15284121,15112469,15043574,14570619,12919427,12857961,12760254,12675718,12493401,12477932,12439825,12393640,12358932,12201845,12200394,12130520,12084174,12084172,12070041,11902138,11724987,11716963,11436564,11288127,11161244,10924335,10845894,10753853,10737800,10627438,10607679,10590042,9920819,9864185,9845707,9490704,9256293,8900235,8822955,8669091,8639918,8554049,8341334,8329718,8220426,8188244,8180407,8080999,7916743,7888828,7789951,7741145,7606008,3146980,3135863,3131772,1898705,1824267,1379850 6007 AM049242,AM072758,AM072759,AM072961,AM157176,AM181333,AM234631,AY149684,AY149686,AY149687,AL928711,AJ276016,AJ278873,AJ299020,AJ417868,AJ428455,AJ504792,AJ534720,AJ548429,AJ548430,AJ548431,AJ548432,AJ557803,AJ557825,AJ557826,AJ557827,AJ585038,AJ585039,AJ585040,AJ585041,AJ630375,AJ633649,AJ784311,AJ784312,AJ867386,AJ867387,AJ867775,AJ867776,NG_003255,NM_001127691,NG_007494,AB012623,AB012658,AB012659,AB012660,AB012661,AB012769,AF390110,AF390111,AJ131502,AJ276015,NM_016124,U66341,Z97031,Z97334,AB018966,AB018967,AB018968,AB018969,AB037270,AB046420,AB049754,AF037626,AF187846,AF312679,AF510069,AF510070,AJ704215,AM183924,AV746749,AW805821,AY449381,AY449382,AY449383,AY449384,AY449385,AY751491,AY756316,AY864887,AY864888,AY864889,BN000065,DQ088169,DQ088170,DQ121434,DQ121435,DQ534022,DQ534023,S83376,S83379,AY170011,AY751492,AY751493,AY751494,AY751495,AY751496,BC139922,BF798211,DQ451878,L08429,S57971,S70174,S73913,S78509,S82449,X63094,X63097,Z97026 CAH72602,CAJ15658,CAJ26349,CAJ26351,CAJ26348,CAJ43113,CAJ57392,CAJ81056,AAO27437,AAO27438,AAO27439,CAC81664,CAC07808,CAC10191,CAD10630,CAD21486,CAD43296,CAD58985,CAD68166,CAD68167,CAD68168,CAD68169,CAD89873,CAC81663,CAD89888,CAD89889,CAE51072,CAE51073,CAE51074,CAE51071,CAF74820,CAG17774,CAH04921,CAH04922,CAI29761,CAI29762,CAI30431,CAI30432,CAD89887,NP_057208,NP_001121163,BAA32804,BAA32815,BAA70073,BAA32817,BAA32818,BAA70085,AAM46621,AAM46622,CAA10381,AAN86717,AAB39602,CAB09727,CAB10170,BAA81899,BAA81900,BAA81901,BAA82159,BAA90298,BAB21261,BAB16598,AAD02100,AAF04565,AAG40872,AAN75125,AAN75126,CAG28848,CAJ75460,AAR24078,AAR24079,AAR24080,AAR24081,AAR24082,AAO39709,AAV51934,AAX63192,AAX63193,AAX63194,CAD29848,AAZ09245,AAZ09246,AAZ09247,AAZ09248,ABF83900,ABF83901,AAN86716,AAU93635,AAU93636,AAU93637,AAU93638,AAU93639,AAU93640,AAI39923,ABE77177,AAA02679,AAB26081,AAB30756,AAB31911,AAB34852,AAB37696,CAA44808,CAA44811,CAB09722,O75102,O75103,O75104,O75835,O75836,O95489,Q05GI4,Q08GE1,Q0KG01,Q19A86,Q19A87,Q1KT12,Q2A0N8,Q2P9N2,Q2PBC1,Q2UVE8,Q2UVE9,Q2YHU9,Q2YHV0,Q333A6,Q333X4,Q3ZV40,Q49IM5,Q49IM6,Q4EW05,Q4EW06,Q4FE19,Q4FE20,Q59AE7,Q5CCG6,Q02161,Q5CCG7,Q5DVP9,Q5DVQ0,Q5DVQ1,Q5DVQ2,Q5NDM4,Q5NDM5,Q5QPZ8,Q5QPZ9,Q5UD29,Q5VSK0,Q5VSK1,Q5XLS8,Q5XLS9,Q5XLT0,Q5XLT1,Q5XLT2,Q5XLT3,Q6A1H1,Q6A1H2,Q6A1H3,Q6A1H4,Q6KC49,Q6SV87,Q6SV88,Q6SV89,Q6SV90,Q6SV91,Q6Y8J3,Q70E14,Q70E15,Q70E16,Q70E17,Q70HW2,Q70P87,Q70VV1,Q7LGF4,Q7RU08,Q7Z594,Q86SJ7,Q86SN4,Q86SN5,Q86UI2,Q86UI3,Q86UI4,Q8IUC5,Q8IUJ0,Q8IZT0,Q8IZT1,Q8NDV5,Q8NFY1,Q8NFY2,Q8WWL0,Q96KN0,Q96KU2,Q99673,Q99906,Q9C0J7,Q9H248,Q9H4C7,Q9HCC3,Q9NXY8,Q9UDZ3,Q9UDZ4,Q9UDZ5,Q9UEC7,Q9UK19,Q9UPC8,AAI60075 Hs.647623 GDB:119551 CD240D|DIIIc|MGC165007|RH|RH30|RHCED|RHDVA(TT)|RHDel|RHPII|RHXIII|Rh4|RhDCw|RhII|RhK562-II|RhPI rhesus blood group protein-coding 1353122 RHEB Ras homolog enriched in brain This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. 1625616,1625606,1580863,1625609 12853948,12842888,12820960,12771962,12690205,12477932,11980706,10924367,9847074,9099708,9001246,8889548,16189514,15775987,9130713,8543055,8206940,8661031,15755954,15809305,15951850,18324915,17991864,17928295,17470430,17018601,16803888,16631613,16344560,16098514,16006564,15878852,15854902,15809346,15728574,15489334,15388940,15340059,15308774,15150271,14702039,12906785,12869586,12869548 1625616,1625606,1625609 6009 AACC02000108,AC005996,CH471173,AF148645,AF493921,AK125446,AK289370,BC009638,BC016155,NM_005614,BC066307,BC107705,BG702213,BM670621,BT006958,CR613801,D78132,DA475169,Z29677 NP_005605,EAL24515,AAD15548,EAW53986,EAW53987,EAW53988,EAW53989,AAF73125,AAM12635,BAF82059,AAH16155,AAH66307,AAI07706,AAP35604,BAA11211,CAA82774,Q15382,Q6NZ61 Hs.283521,Hs.568850,Hs.647068 MGC111559|RHEB2 protein-coding 1346400 RHEBL1 Ras homolog enriched in brain like 1 737633,1580863 16328882,16189514,16098514,15761153,12477932 737633 121268 NM_144593,AC011603,CH471111,AK098663,AY327412,AY509932,BC014155,BC027482,CR612990 NP_653194,EAW58037,EAW58038,BAC05370,AAP92804,AAS80166,AAH14155,AAH27482,Q8TAI7 Hs.159013 FLJ25797|MGC34869|RHEBL1c protein-coding 1352603 RHEBP1 Ras-homolog enriched in brain pseudogene 1 729721 17470430,12869548,8543055,8206940 729721 6008 NG_002826,AL356056 RHEB|RHEB1 pseudo 731395 RHO rhodopsin Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. 1601619,1601635,1580863,1601620 17693260,1418997,8107847,8253795,11256614,18318631,18175313,17936999,17653048,17488458,17325176,17289151,16767206,16565402,16381901,16229860,16185528,16049034,15823756,15726226,15659613,15509574,15489336,15489334,15251955,15232620,14566652,12871954,12754272,12646201,12601165,12590587,12477932,12359230,12297272,12091393,11972042,11910130,11910029,11498053,11394879,11230166,11076863,10980774,10722682,10636894,10051572,9888392,9852134,9169442,9099669,8943080,8841304,8617805,8566799,8554077,8430695,8406457,8401533,8366096,8358437,8353500,8317502,8288567,8240107,8180207,8144599,8088850,8081400,8076945,8045708,7987385,7987331,7987326,7981701,7846071,7673885,7633434,7523628,6589631,3942531,3769527,3350146,2629206,2613244,2333895,2239971,2218504,2215617,2137202,2016091,1987955,1985460,1917988,1897520,1882937,1862076,1840561,1833777,1765377,1589761,1580841,1539595,1484692,1391967,1356370,1302614,1301135 1601619,1601635,1601620 6010 NM_000539,AB065668,AC080007,CH471052,S81166,U16824,U49742,BC112104,BC112106,BX537381 NP_000530,BAC05894,EAW79244,AAB35906,AAA97436,AAC31763,AAI12105,AAI12107,CAD97623,P08100,CAL37658,AAI11452 Hs.247565 GDB:120347 MGC138309|MGC138311|OPN2|RP4 rhodopsin protein-coding 1347797 RHOA ras homolog gene family, member A 1547860,1547861,1642819,1642801,1642807,1642810,1642826,1642966,1642967,1642803,1642963 15475352,15448013,15331592,15322077,15308673,15298851,15210811,15208091,15184877,15155793,15125835,15102021,15096506,15069594,15068789,15023524,15016733,15009099,15003991,14749388,14660612,14657501,14644158,14612927,14605490,14581471,14514689,14506264,12972601,10436159,15644318,17488622,17446864,17360533,17332506,17310253,17301947,17301291,17300916,17284169,17273773,17197445,17190792,17178865,17130286,17115030,17086988,17077126,17018860,17018591,17007568,16996686,16978776,16904289,16864657,16776827,16772297,16684954,16681996,16652149,16645187,16644720,16632465,16622418,16540523,16537448,16513651,16496227,16481321,16472676,16427251,16424340,16402387,16397238,16394104,16352658,16308318,16257181,16247472,16118207,16109481,16103226,16061799,15963982,15925904,15901767,15890975,15843433,15817453,15809302,15793569,15793564,15761153,15755723,15668138,15643515,15642170,15640525,15611088,15598682,15579505,15574779,12972426,12944407,12939257,12900402,12879077,12847276,12808121,12805219,12777804,12766172,12719789,12692008,12654918,12761501,18316594,18198190,18182571,18172303,18096806,18088600,18079197,18078809,18005701,18005700,17976533,17951409,17947676,17947237,17914970,17896152,17855350,17825823,17702745,17673200,17658517,17636025,17635521,17597401,17562701,17517067,17507466,17502338,17493936,17492768,15557193,15535843,15530360,15489334,15475381,17488780,12593858,12584113,11591790,11560922,11373293,11350930,11335720,11311142,11284700,11149925,11085924,10948190,10947987,10940294,10896672,10854437,10748207,10713718,10526156,10523675,10388627,10220378,10066731,10051605,9857026,9804788,9799233,9647788,9635436,9614111,9605859,9582072,9565577,9548756,9545299,9446575,9407060,9373149,9354661,9302995,9199174,9121475,9113980,8910519,8798490,8769096,8662891,8641286,8617235,8543060,8491184,8125298,8039707,7989340,7835413,3822842,2407642,1556108,1328215,16105876,16189514,12773565,12748184,12842009,12857875,15659383,17353931,14530271,15834426,15889147,15766663,15467718,15652748,12579323,12538863,12534282,12533515,12524425,12490434,12477932,12466390,12445208,12432077,12423633,12401808,12397214,12244193,12221096,12221077,12169092,12154081,12119292,12115629,12093360,12071848,12062101,12016230,12006984,11998687,11948427,11927263,11909943,11907271,11889037,11839765,11839748,11830597,11830497,11822867,11818523,11788600,11786539,11779461,11751986,11741970,11696353,11689693,11672528 1547860,1547861,1642819,1642801,1642807,1642810,1642826,1642966,1642967,1642803,1642963 387 NM_001664,AC104452,AC121247,AC137114,CH471055,M83094,AF498970,AK130066,AK130808,AK222556,BC000946,BC001360,BC005976,BT019870,BX647063,CR590795,CR591837,CR592238,CR594903,CR595507,CR595947,CR596439,CR596598,CR596885,CR598647,CR600849,CR601531,CR602199,CR602563,CR602766,CR602977,CR605973,CR607421,CR607713,CR608339,CR608641,CR610129,CR610290,CR613062,CR614049,CR617634,CR620398,CR621617,CR623439,CR624260,CR624876,L09159,L25080,X05026 NP_001655,EAW64978,EAW64979,EAW64980,AAA67539,AAM21117,BAD96276,AAH00946,AAH01360,AAH05976,AAV38673,CAE46190,AAA50612,AAC33178,CAA28690,P61586,Q53HM4,Q9BVT0 Hs.247077 ARH12|ARHA|RHO12|RHOH12 protein-coding 1351195 RHOB ras homolog gene family, member B 1400319,3888408,10508588,15226397,18471322,18056259,18047684,17728102,17405813,17304710,17198702,17096327,17054945,17046241,16642435,16278215,15944396,15815621,15713677,15642170,15574879,15489334,15102679,14702039,14647415,13679859,13679852,12939257,12878865,12477932,12473120,12237774,12221096,11905808,11788600,11786539,11741970,11546812,11353846,11149925,10913192,10713718,9811589,9734811,9478917,8939998,8889548,8621375,7713879,7537292,3283705,2407642 388 NM_004040,AC023137,BK001671,CH471053,AF171089,AF498971,AK124398,BC062781,BC066954,BK001232,BM669284,BT019546,BT019547,CR542272,CR626079,M12174,X06820 NP_004031,AAY24345,DAA01912,EAX00819,EAX00820,AAQ13605,AAM21118,AAH66954,DAA01138,AAV38353,AAV38354,CAG47068,AAA36565,CAA29968,P62745,Q7Z4F6 Hs.502876 ARH6|ARHB|MST081|MSTP081|RHOH6 protein-coding 1315735 RHOBTB1 Rho-related BTB domain containing 1 The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate transcriptional splice variants have been characterized. 1580863 16170569,15489334,15146197,14702039,14521508,12477932,12426103,11222756,9872452 9886 AC027678,CH471083,CQ783182,AB018283,AK075129,BC032848,BC041791,BC093035,BQ574439,CB959762,NM_001032380,NM_198225,NM_014836,AC011197,CF593541,CN286750,CR592220,CR624360 EAW54211,EAW54212,EAW54213,EAW54214,EAW54215,EAW54216,EAW54217,CAF86387,BAA34460,BAC11421,AAH32848,AAH41791,AAH93035,NP_001027552,NP_937868,NP_055651,O94844,Q567T3,ABM83380,ABM86592 Hs.148670 GDB:9958345 KIAA0740|MGC33059|MGC33841 protein-coding 1320529 RHOBTB2 Rho-related BTB domain containing 2 RHOBTB2 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM] 1580863 18039672,17653899,17617377,17517369,17023000,15663929,15489334,12477932,12426103,12370419,12168954,11222756,9872452 23221 NM_015178,AC107959,AF315385,CH471080,AB018260,AK098744,AK292863,AY009093,BC034917 NP_055993,AAK07562,EAW63644,EAW63645,EAW63646,BAA34437,BAC05401,BAF85552,AAG61157,AAH34917,Q8N798,Q9BYZ6 Hs.372688 GDB:9955396 DBC2|KIAA0717 protein-coding 1323267 RHOBTB3 Rho-related BTB domain containing 3 RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM] 1580863 12426103,17035353,15489334,15146197,14702039,12477932,11222756,10048485,9110174,8619474 22836 CN361948,CR596551,CR622454,AC008821,AC008840,CH471084,AB020685,AF131794,AK023621,AK290034,BC013169,BC020231,BC041337,BC047884,NM_014899 O94955,EAW96049,EAW96050,EAW96051,EAW96052,BAA74901,BAF82723,AAH20231,AAH41337,NP_055714 Hs.445030 GDB:9957175 KIAA0878 protein-coding 1312711 RHOC ras homolog gene family, member C This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 8468062,15670823,17353931,12761501,18211678,17897917,17896152,17696235,17549441,17497936,17265125,17018591,16710414,16511001,16189514,15969750,15864301,15668138,15642170,15501444,15489334,15146197,15020670,14702039,14614010,14555841,12970882,12939257,12808121,12756732,12477932,12221096,12090470,11839578,11546812,10952316,10436159,16899593,8889548,8816443,8662891,8543060,7989340,7835413,3888408,3283705,1383236 389 CR601446,CR608776,CR614305,CX872299,L25081,X06821,NM_175744,NM_001042679,AL603832,CH471122,CS026595,AF085893,AF498972,AK094474,BC007245,BC009177,BC052808,BQ231012,BT019448,BX648784,CA307508,CB851337,CN289691,CR450360,NM_001042678 AAC33179,CAA29969,P08134,Q5JR06,Q5JR07,Q5JR08,ABM84097,ABM87469,NP_001036143,NP_786886,NP_001036144,CAI14057,CAI14058,CAI14059,CAI14060,CAI14061,EAW56534,EAW56535,EAW56536,EAW56539,CAI61764,AAM21119,AAH07245,AAH09177,AAH52808,AAV38255,CAG29356 Hs.502659,Hs.658289 ARH9|ARHC|H9|MGC1448|MGC61427|RHOH9 protein-coding 1322195 RHOD ras homolog gene family, member D Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. 1580863 9116026,17916560,12577064,12477932,11784792,11484930,11350626,10894936,14749388,17342762,17056591,17029007,16651639,15761153,15489334,15187129 29984 NM_014578,AP000729,CH471076,CS026791,D85815,AF498973,BC001338,CR611537,CR619606,CR621680 NP_055393,EAW74577,CAI61861,BAA19652,AAM21120,AAH01338,O00212,ABM82050,ABM85229 Hs.15114 ARHD|RHOHP1|RHOM|Rho protein-coding 1352247 RHOF ras homolog gene family, member F (in filopodia) 1580863 11084341,15489334,14702039,12477932 54509 NM_019034,AC084018,CH471054,CS026797,AF239923,AK000254,AK130459,AK289482,BC018208,BC018721,BC032529,BC043395,BG574506,BM830620,BQ053707,BQ422695,BU527972,CA426077 NP_061907,EAW98278,EAW98279,CAI61864,AAG24952,BAA91034,BAF82171,AAH18208,Q9HBH0 Hs.524804,Hs.644504,Hs.707579 ARHF|FLJ20247|RIF protein-coding 1316030 RHOG ras homolog gene family, member G (rho G) ARHG is a member of the RAS superfamily of genes, which encode GTP-binding proteins that act in the pathway of signal transduction and play a key role in the regulation of cellular functions.[supplied by OMIM] 634616 1620121,12879077,17570359,17027967,16621998,16568096,16339170,15199069,12545154,12477932,12376551,11909943,11689693,10713718,10523675,9614181,9177787,8939998,8464478,8325658,15620647 634616 391 BI196968,NM_001665,AC090587,CH471158,AA424888,AF498974,AY563952,BC104177,BC104178,BT019872,BX359696,CB125569,CR450335,CR542105,CR595510,CR610572,CR611274,CR611277,CR612317,CR614056,CR616579,CR625234,CR625567,L11317,X61587 NP_001656,EAX02575,EAX02576,EAX02577,AAM21121,AAS75333,AAI04178,AAI04179,AAV38675,CAG29331,CAG46902,AAA60268,CAA43784,P84095,Q6ICQ8 Hs.501728 ARHG|MGC125835|MGC125836 protein-coding 1316925 RHOH ras homolog gene family, member H The protein encoded by this gene is a member of the Ras superfamily of small GTPases. Expression of a chimeric transcript of LAZ3 and this gene has been reported as a result of the translocation t(3;4) in non-Hodgkin's lymphomas. This gene encodes a small G-like protein, and unlike most other small G proteins which are expressed ubiquitously, this gene is transcribed only in hemopoietic cells. 1580863 11809807,15670823,16541139,16344560,15761153,15563831,15489334,12477932,11368848,11032736,9226377,7784061,16189514 399 NM_004310,AC095057,CH471069,CQ834136,CQ834138,AF498975,AI865435,BC014261,BG025818,CA447396,CD703012,CR450349,CR607001,CR619539,DA906265,Z35227 NP_004301,EAW92960,EAW92961,EAW92962,CAH05283,CAH05284,AAM21122,AAH14261,CAG29345,CAA84538,Q15669,Q6ICP4,ABM83555,ABM86793 Hs.654594,Hs.694951 ARHH|TTF protein-coding 1321483 RHOJ ras homolog gene family, member J ARHJ belongs to the Rho family of small GTP-binding proteins. Rho proteins regulate the dynamic assembly of cytoskeletal components for several physiologic processes, such as cell proliferation and motility and the establishment of cell polarity. They are also involved in pathophysiologic process, such as cell transformation and metastasis.[supplied by OMIM] 1580863 10967094,15761153,15710388,15489334,15304341,14702039,12960428,12477932 57381 NM_020663,AL049871,CH471061,AB209218,AF087862,AF309563,AF498977,AJ276567,AK027278,AK027351,BC025770,BC062575 NP_065714,EAW80820,EAW80821,EAW80822,EAW80823,EAW80824,BAD92455,AAP97172,AAL09440,AAM21124,CAC06611,BAB55013,BAB55055,AAH62575,Q59G91,Q7Z513,Q9H4E5 Hs.656339 ARHJ|FLJ14445|MGC34777|RASL7B|TC10B|TCL protein-coding 1345983 RHOQ ras homolog gene family, member Q TC10 is a member of the RAS superfamily of small GTP-binding proteins (see HRAS, MIM 190020) involved in insulin-stimulated glucose uptake.[supplied by OMIM] 1580863 15194684,16950130,16246732,15546864,15489334,14702039,12972548,12687004,12529401,12508121,12477932,12456725,12242347,12134073,11821390,11162552,11149925,10934474,10490598,10445846,2108320,15304341,15361624,10967094 23433 NM_012249,AC018682,CH471053,AF498976,AK095329,BC013135,BC033251,BC056154,BC065291,BC070485,BC093805,BC101806,BU928962,CR594469,CR624597,M31470 NP_036381,AAY14834,EAX00246,EAX00247,EAX00248,EAX00249,EAX00250,EAX00251,AAM21123,AAH56154,AAH65291,AAH70485,AAH93805,AAI01807,AAA36547,P17081 Hs.701976 ARHQ|RASL7A|TC10|TC10A protein-coding 1345608 RHOQP ras homolog gene family, member Q pseudogene 319093 NG_002478,AL139099 ARHQP pseudo 1315969 RHOT1 ras homolog gene family, member T1 16630562,12482879,16381901,15489336,15489334,15146197,14702039,14521508,12477932,11230166,11076863 55288 NM_001033568,NM_001033566,NM_018307,AC026620,AC116407,CH471147,AJ496730,AJ517412,AK001902,AK022695,AL136929,AY094972,BC015698,BC029029,BC041114,BC051818,BC060781,BC068463,BC092401,BC110895,BC125104,BC125105,CN352790 NP_001028738,NP_001028740,NP_060777,EAW80242,EAW80243,EAW80244,EAW80245,EAW80246,EAW80247,EAW80248,EAW80249,EAW80250,EAW80251,CAD43139,CAD56956,BAA91969,BAB14185,CAB66863,AAM15734,AAH15698,AAH41114,AAH51818,AAH60781,AAH68463,AAI25105,AAI25106,Q0JTS7,Q8IXI2,CAL38085,AAI46695 Hs.655325 ARHT1|FLJ11040|FLJ12633|MIRO-1 protein-coding 1347429 RHOT2 ras homolog gene family, member T2 16630562,12482879,15489334,15231748,15218247,14702039,14521508,12477932,11157797,16189514 89941 AK090426,AL834163,AY207375,BC004327,BC014942,CR597322,CR611878,NM_138769,AE006464,CH471112,Z92544,AJ517413,AK024450 BAC03407,AAP46090,AAH04327,AAH14942,Q8IXI1,NP_620124,AAK61240,EAW85763,EAW85764,EAW85765,EAW85766,EAW85767,EAW85768,CAM26351,CAD56957,BAB15740 Hs.513242 ARHT2|C16orf39|MIRO-2|RASL protein-coding 1347334 RHOU ras homolog gene family, member U This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. 1580863 15350535,17504809,16751668,15556869,14731133,14702039,12477932,11894124,11459829 58480 NM_021205,AL096776,CH471098,DQ384420,DQ384421,DQ384422,DQ384423,DQ384424,DQ384425,AB051826,AB074878,AB209511,AF211836,AF251701,AF282258,AF378087,AK001478,AK289971,BC040076,CR616242 NP_067028,EAW69885,EAW69886,ABD48870,ABD48871,ABD48872,ABD48873,ABD48874,ABD48875,BAB18638,BAB86361,BAD92748,AAL54874,AAL99390,AAG46058,AAK83340,BAF82660,AAH40076,Q7L0Q8,Q9NPY5 Hs.647774 ARHU|CDC42L1|DJ646B12.2|FLJ10616|WRCH1|fJ646B12.2|hG28K protein-coding 1604729 RHOV ras homolog gene family, member V 17355222,15664990,12477932,11956592,11839775,9778532 171177 NM_133639,AC025166,CH471125,AB079131,AY059636,BC019353,BC105020,BC105022,BC112945,CR599960,CR615243,CR618466 NP_598378,EAW92459,EAW92460,BAB86363,AAL17966,AAH19353,AAI05021,AAI05023,AAI12946,Q05D03,Q96L33 Hs.447901 ARHV|Chp|WRCH2 protein-coding 1603173 RHOXF1 Rhox homeobox family, member 1 12490318,11980563,16713569,16189514,15772651,15489334,15231747,12477932 158800 NM_139282,XM_001715156,AC005023,CH471161,AY099086,BC069324,BC069529,BC103857,BC103858 NP_644811,XP_001715208,AAC78617,EAW89834,AAM22794,AAH69324,AAH69529,AAI03858,AAI03859,Q8NHV9,ABZ92380 Hs.644617 MGC119030|MGC119033|OTEX|PEPP1 protein-coding 1626588 RHOXF2 Rhox homeobox family, member 2 15489334,14702039,12490318,12477932,15231747,16189514 84528 NM_032498,AC002086,CH471161,AF317219,AK058125,AL590524,AL590526,BC021719 NP_115887,EAW89836,AAL02160,BAB71675,CAC36517,CAC36519,AAH21719,Q9BQY4,ABM81918,ABM85095 Hs.567620 PEPP-2|PEPP2|THG1 protein-coding 1626578 RHOXF2B Rhox homeobox family, member 2B 727940 NM_001099685,AC005023 NP_001093155 Hs.196956 protein-coding 1313863 RHPN1 rhophilin, Rho GTPase binding protein 1 1580863 16189514,15489334,14749388,12477932,12221077,11572484,10591629 114822 NM_052924,AC087793,AC105118,CH471162,AB067516,AY082588,BC012135,BC025767,BX341691,CR612945 NP_443156,EAW82251,EAW82252,EAW82253,EAW82254,EAW82255,EAW82256,BAB67822,AAL89809,AAH25767,Q8TCX5,Q96PV9 Hs.521912 KIAA1929|ODF5|RHOPHILIN|RHPN protein-coding 1318093 RHPN2 rhophilin, Rho GTPase binding protein 2 1580863 16189514,17353931,17054945,16777052,15761153,15489334,14702039,12477932,12473120,12221077,12773565,14749388,15778465 85415 NM_033103,AC008521,AC011449,AC093069,AF268032,AF423421,AJ347750,AK026894,AK095001,AK098246,AK126506,AL831950,BC036447 NP_149094,AAK58588,AAQ04062,CAC87939,BAC04471,CAD38597,AAH36447,Q8IUC4,ABM83037,ABM86231 Hs.466435 RhoBP|p76RBE protein-coding 1344064 RIBC1 RIB43A domain with coiled-coils 1 1580863 15772651,15489334,14702039,12477932 158787 NM_144968,NM_001031745,NG_006988,CH471154,Z97054,AK057345,BC036767 NP_659405,NP_001026915,EAW93152,EAW93153,EAW93154,EAW93155,EAW93156,CAI42648,CAI42649,CAI42650,BAB71438,AAH36767,Q8N443 Hs.351743 2610028I09Rik|FLJ32783|MGC46233 protein-coding 1351194 RIBC2 RIB43A domain with coiled-coils 2 737633 16189514,15489334,15461802,12477932,10591208,9373149,8125298 737633 26150 NM_015653,AL021391,CH471138,AK098586,AK225722,AL050075,AL442116,BC003024,BC009904,CR456438,CR457398 NP_056468,CAI18929,EAW73384,CAB43258,CAC09526,AAH03024,AAH09904,CAG30324,CAG33679,Q9H4K1,CAK54429,CAK54728 Hs.475110 C22orf11 protein-coding 1606245 RIC3 resistance to inhibitors of cholinesterase 3 homolog (C. elegans) RIC3 is a protein associated with nicotinic acetylcholine receptors (nAChRs), neurotransmitter-gated ion channels expressed at the neuromuscular junction and within the central and peripheral nervous systems, that can enhance functional expression of multiple nAChR subtypes (Lansdell et al., 2005 [PubMed 16120769]).[supplied by OMIM] 18246096,18179477,17609200,17192664,16120769,15927954,15809299,15504725,14702039,12975309,12821669,12477932 79608 NM_024557,AC091013,AC116456,AC129895,CH471064,AK021670,AL832601,AY326435,AY326436,AY358475,BC022455,BX647514 NP_078833,EAW68627,EAW68628,EAW68629,EAW68630,EAW68631,BAB13871,CAD89943,AAP92162,AAP92163,AAQ88839,AAH22455,Q7Z5B4 Hs.655660 AYST720|FLJ11608|PRO1385 protein-coding 1604802 RIC8A resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) 16713569,16629901,16381901,16189514,15489336,15489334,14702039,12509430,12477932,11230166,11076863,10985349,9373149,8125298,12652642 60626 NM_021932,AC069287,CH471278,AK022870,AK026897,AK027090,AK027461,AK225420,AL136935,AL390088,BC011821,BC094717,BC111499,BC121807,BC121808,BX538115,CR601730 NP_068751,EAW61244,EAW61245,EAW61246,BAB14282,BAB15653,BAB55126,CAB66869,CAB98211,AAH11821,AAI11500,AAI21808,AAI21809,CAD98025,Q0JT51,Q504X2,Q9NPQ8,CAL38313 Hs.592292 MGC104517|MGC131931|MGC148073|MGC148074|RIC8|synembryn protein-coding 1605657 RIC8B resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) 12652642,16344560,15489334,14702039,12509430,12477932 55188 NM_018157,AC007695,AC079385,AC090011,CH471054,AK001482,AK128102,AY221116,BC034220,BC132689,CB215722,DA118965,DA325821,DA534432 NP_060627,EAW97785,EAW97786,EAW97787,BAA91717,BAC87276,AAO65923,AAH34220,AAI32690,Q9NVN3 Hs.131306 FLJ10620|MGC39476|RIC8|hSyn protein-coding 1604841 RICH2 Rho-type GTPase-activating protein RICH2 12477932,11431473,9734811,16344560,15489334,14702039 9912 NM_014859,XM_001128541,AC005274,AC005277,CH471108,AB014572,AK023797,AL080100,AL096728,AY320403,BC022452,BC070074,BC094754,BC117412,BC117416,BM993036,DA403021,DB461035 NP_055674,XP_001128541,EAW89965,EAW89966,EAW89967,EAW89968,EAW89969,BAA31647,BAB14683,CAH10728,CAB46376,Q69Z00,Q8TBK1,Q9H8D4,Q9Y4Q4,AAP73805,AAH22452,AAI17413,AAI17417,Q17R89 Hs.499758 GDB:9958479 KIAA0672|NPC-A-10 protein-coding 1605412 RICS Rho GTPase-activating protein RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM] 12788081,17663722,16713569,14702039,12857875,12819203,12531901,12477932,12477392,12454018,12446789,12421765,9872452,15778465 9743 AK023715,AK025237,AL833062,AY194287,BC000277,BC023644,BC051236,BC054488,BC065371,BC104898,BC113429,EF127492,NM_014715,AP000751,CH471065,AB018255,AB079856,AK001257 CAD89974,AAO43677,AAH00277,AAH51236,AAH65371,AAI04899,AAI13430,ABO33171,O94820,Q86T64,Q86UT2,Q86YL6,Q8IUG4,Q9BWG3,NP_055530,EAW67732,EAW67733,EAW67734,EAW67735,EAW67736,EAW67737,EAW67738,EAW67739,EAW67740,EAW67741,EAW67742,BAA34432,BAC24802 Hs.440379 GDB:9958189 GC-GAP|GRIT|KIAA0712|MGC1892|p200RhoGAP|p250GAP protein-coding 1604194 RICTOR rapamycin-insensitive companion of mTOR RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM] 1625616 15268862,15718470,18089801,17461779,17329400,17043309,16962653,16959881,15467718,15302935,14702039,12477932,12056414,1546771 1625616 253260 NM_152756,AC008964,AC026713,AC109467,CH471119,AB082530,AK024327,AK094538,AK127305,AK128358,AL834497,AY515854,BC029608,BC051729,CR749280 NP_689969,EAW55978,EAW55979,EAW55980,BAC02708,CAD39155,AAS79796,AAH29608,AAH51729,CAH18135,Q6R327,Q8N6M7,ABM82598,ABM85784 Hs.407926 DKFZp686B11164|KIAA1999|MGC39830|mAVO3 protein-coding 1351547 RIEG2 Rieger syndrome 2 6012 GDB:5203575 1352449 RIF1 RAP1 interacting factor homolog (yeast) 17455211,17081983,16964243,15583028,15342490,15302935,15042697,14702039,9110174,8619474 55183 AY727911,AY727912,AY727913,BX648324,CR933663,AC009311,AC009497,CH471058,AK000323,AK001461,AK022932,AK024033,AK074349,AL080129,AY584066,AY585745,AY727910,NM_018151,U79263 AAV51402,AAV51403,AAV51404,CAI45961,NP_060621,EAX11507,EAX11508,EAX11509,EAX11510,BAA91705,BAB14313,BAB14792,BAB85058,CAB45727,AAS94233,AAT40745,AAV51401,AAB50209,Q5UIP0 Hs.655671 DKFZp781N1478|FLJ12870 protein-coding 1317025 RILP Rab interacting lysosomal protein RILP, along with the GTPase RAB7 (MIM 602298), controls late endocytic transport.[supplied by OMIM] 737633,1580863 11179213,17959629,16857164,16631113,16417580,15996637,15933719,15498874,15489334,14702039,14668488,12944476,12621583,12477932,12475955,11696325,11520070 737633 83547 NM_031430,AC130343,CH471108,AF370391,AJ278711,AJ404317,AK055755,BC004961,BC031621,CR614924,CR617608,CR619373 NP_113618,EAW90595,AAQ15227,CAC82174,CAC33443,BAB71003,AAH04961,AAH31621,Q96NA2,ABM83393,ABM86606 Hs.534497 FLJ31193|PP10141 protein-coding 1606943 RILPL2 Rab interacting lysosomal protein-like 2 16189514,14702039,14668488,12477932 196383 NM_145058,AC145423,CH471054,AB085763,AK054942,AK056934,BC013042 NP_659495,EAW98411,BAC76826,BAB71313,AAH13042,Q969X0,ABM83505,ABM86722 Hs.488173,Hs.605175 FLJ30380|FLJ32372|MGC7036 protein-coding 1606822 RIMBP2 RIMS binding protein 2 17855024,16112646,15489334,12477932,10748113,9205841 23504 NM_015347,AC063926,CH471054,AA911488,AB002316,AI692410,AY699979,BC007632,BM142295,BX641152,CR592066 NP_056162,EAW98512,BAA20776,AAH07632,CAE46066,O15034 Hs.657441 KIAA0318|MGC15831|RBP2|RIM-BP2 protein-coding 2291774 RIMBP3 RIMS binding protein 3 17855024,15489334,12477932,11258795,10591208 85376 NM_015672,AC023490,AB051453,AL117509,AL133030,BC035246 NP_056487,BAB33336,CAB55970,CAB61362,AAH35246,Q9UFD9 Hs.115429 DKFZp434H0735|KIAA1666|RIMBP3.1|RIMBP3A protein-coding 2291768 RIMBP3B RIMS binding protein 3B 17855024 440804 XM_036936,AP000552 XP_036936 RIMBP3.2 protein-coding 2291772 RIMBP3C RIMS binding protein 3C 17855024 150221 XM_036942,AP000557 XP_036942 RIMBP3.3 protein-coding 1352332 RIMKLP ribosomal modification protein rimK-like (E. coli) pseudogene 10830953 54031 NG_000912,AP001724 GDB:10796418 pseudo 731818 RIMS1 regulating synaptic membrane exocytosis 1 RAB3A (MIM 179490), a member of the RAS gene superfamily, is a synaptic vesicle protein that regulates synaptic vesicle exocytosis. MUNC13 (UNC13; MIM 605836) and its isoforms are required for priming synaptic vesicles for exocytosis. The RIM family of active zone proteins likely function as protein scaffolds that help regulate vesicle exocytosis during short-term plasticity.[supplied by OMIM] 68912 11438518,17237123,15746564,15302935,14702039,12871946,12659814,12620390,12578829,12477932,12391317,12163476,11797009,11438522,11438521,11438520,11438519,11343654,9634506,9205841,14734538,17353931 68912 22999 NM_014989,AL034373,BC036608,BC151853,BC152435,AF263305,AF263306,AF263307,AF263308,AF263309,AF263310,AK095726,AY190519,AL035633,AL160405,AL390056,AL445256,AL590011,CH471051,AB002338,AB045726,AB051866 NP_055804,BAB87242,AAH36608,AAI51854,AAI52436,Q3ZCW0,Q5JS64,Q5JS65,Q5JS66,Q5JS67,Q5JS68,Q5JS69,Q5SZK1,Q5SZK2,Q86UR5,AAI56412,AAG23162,AAG23163,AAG23164,AAG23165,AAG23166,AAG23167,AAO38848,CAI20558,CAI42135,CAI42136,CAI42137,CAI42138,CAI42139,CAI42140,CAI16961,EAW48787,EAW48788,EAW48789,EAW48790,EAW48791,EAW48792,EAW48793,EAW48794,EAW48795,EAW48796,BAA20798,BAB87121 Hs.485729 GDB:9785633 CORD7|KIAA0340|MGC167823|MGC176677|RAB3IP2|RIM|RIM1 rim1 protein protein-coding 1351338 RIMS2 regulating synaptic membrane exocytosis 2 1580863 17081983,16192289,15489334,15342556,15146197,14660679,12871946,12620390,12578829,12477932,11598134,10707984,9872452,9110174,8619474 9699 NM_001100117,NM_014677,AC007751,AC012213,AC090448,AC090686,AC107933,AP001572,AP002849,CH471060,AB018294,AF007156,AK126939,AY057119,AY057120,AY057121,BC018057,BC043144,BE220725,BP230765,CN291844,CR749374 NP_001093587,NP_055492,EAW91888,EAW91889,EAW91890,EAW91891,BAA34471,AAC19157,AAL23679,AAL23680,AAL23681,AAH18057,AAH43144,CAH18227,Q4G1C6,Q68DJ3,Q8IWW0,Q9UQ26 Hs.655271 GDB:9957972 DKFZp781A0653|KIAA0751|OBOE|RAB3IP3|RIM2 protein-coding 1347880 RIMS3 regulating synaptic membrane exocytosis 3 633867,633421,1580863 17081983,16710414,15489334,12620390,12477932,10748113,9039502 633867,633421 9783 NM_014747,AL031289,CH471059,AY326956,BC003103,CK005853,CR619233,D87074 NP_055562,CAA20357,EAX07206,EAX07207,AAQ01683,AAH03103,BAA13243,Q9UJD0,ABZ92281 Hs.654808 KIAA0237|NIM3|RIM3 protein-coding 1350639 RIMS4 regulating synaptic membrane exocytosis 4 633867,1580863 12477932,11780052,15489334,14702039,12620390 633867 140730 NM_182970,AL118522,CH471077,AK055698,AK095716,AK124626,AK126807,AY326954,BC036612,BC104190,BC104191,BC112985,BX648947 NP_892015,CAI22760,EAW75897,EAW75898,EAW75899,AAQ01681,AAI04191,AAI04192,AAI12986,Q3MI43,Q9H426 Hs.517065 C20orf190|RIM4|dJ781B1.3 protein-coding 1348032 RIN1 Ras and Rab interactor 1 729747,1580863 11784866,11703925,9208849,3874369,1849280,15031288,16189514,9144171,15886098,7862125,18089779,17403676,17390061,16964243,16457816,15951569,15489334,12477932,11788587 729747 9610 NM_004292,AP001107,CH471076,AB209445,BC014417,BG163919,BQ956294,L36463 NP_004283,EAW74512,BAD92682,AAH14417,AAB67270,Q13671,Q59FL5,ABM84601,ABM86764 Hs.1030 GDB:9957793 protein-coding 1314166 RIN2 Ras and Rab interactor 2 The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. 1580863 11733506,1849280,14702039,12972505,12477932,11780052,11230166 54453 NM_018993,AL049538,AL132821,CH471133,AB060339,AK026753,AK094884,AL136924,BC034698,BC128065,CR617469,M37190 NP_061866,EAX10216,EAX10217,BAB84317,CAB66858,AAI28066,AAA36553,Q8WYP3 Hs.472270 GDB:11510202 RASSF4 protein-coding 1314128 RIN3 Ras and Rab interactor 3 RIN3 is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases (see RAB5A; MIM 179512) (Kajiho et al., 2003 [PubMed 12972505]).[supplied by OMIM] 1580863 14702039,12972505,11733506,15489334,12508121,12477932 79890 NM_024832,AL136332,AL159141,AL832844,CH471061,AB060338,AB081753,AK021762,AK026092,AK074176,AK090451,AK096145,AK128338,BC025248,BC032614,BC034153,BC070062,BX248258,CR620663,CR936654 NP_079108,EAW81490,EAW81491,EAW81492,EAW81493,EAW81494,EAW81495,EAW81496,EAW81497,EAW81498,EAW81499,BAB84316,BAC16513,BAB13888,BAB15357,BAB85002,BAC03432,BAC87390,AAH25248,AAH70062,CAD62586,CAI56792,Q5CZ74,Q6NSK7,Q6ZRC2,Q76LB3,Q86U22,Q8TB24 Hs.326822 GDB:11510204 DKFZp762H1613|FLJ11700|FLJ22439 protein-coding 1353088 RING1 ring finger protein 1 This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. 1580863 9199346,16359901,15489334,15386022,15009096,14574404,12477932,12167701,12167161,12004135,11583618,11171983,10369680,9858531,9205114,7681583,1906426,14647293,16189514,10825164,15710417,17134822 6015 NM_002931,AL645940,AL713971,AL844527,CH471081,CR547129,CR759733,CR759786,CR847841,AI828228,BC002922,BC051866,BI259576,BT007352,CR594955,CR598354,CR604365,CR606762,CR608675,CR624041,Z14000,AK289355 NP_002922,CAI18069,CAI17650,CAI41841,EAX03683,EAX03684,CAQ10355,CAQ10303,CAQ08246,CAQ10314,BAF82044,AAH02922,AAH51866,AAP36016,CAA78389,Q06587,ABM83883,ABM87203 Hs.631989 GDB:5865048 RING1A|RNF1 protein-coding 1605055 RINT1 RAD50 interactor 1 11096100,15029241,15272311,17699596,17470549,16600870,16571679,15489334,14702039,12853948,12477932,9847074 60561 NM_021930,AC073073,CH236947,CH471070,AF317622,AK021847,AK055508,AK057757,AL832825,BC007120,BC068483,CR601014 NP_068749,AAQ96849,AAQ96850,EAW83366,EAW83367,AAG42101,BAB13910,AAH07120,AAH68483,Q6NUQ1 Hs.592270 DKFZp667H2324|RINT-1 protein-coding 1314499 RIOK1 RIO kinase 1 (yeast) This gene includes two alternatively spliced transcript variants, which encode different isoforms. The function of this gene has not been determined. 16183636,15489334,15324660,14702039,12477932,12384809 83732 NM_031480,NM_153005,AL138878,AL139095,CH471087,AF258661,AK054568,AL834277,AY094356,BC000811,BC006104,CR608910 NP_113668,NP_694550,CAH72013,CAI16452,EAW55210,AAG44659,BAB70761,CAD38952,AAM15729,AAH06104,Q5W0K5,Q8IWV0,Q9BRS2,Q9H2L9 Hs.591353 AD034|FLJ30006|MGC12903|bA288G3.1 protein-coding 1323125 RIOK2 RIO kinase 2 (yeast) 1580863 17081983,16183636,15489334,14702039,12477932,9373149,8125298 55781 NM_018343,AC008865,AC008883,CH471084,AK001697,AK002021,AK225348,BC000953,CR610601,CR622281 NP_060813,EAW96088,BAA91844,BAA92040,AAH00953,Q9BVS4,Q9NVB0 Hs.27021 FLJ11159 protein-coding 1321961 RIOK3 RIO kinase 3 (yeast) This gene was identified by the similarity of its product to the Aspergillus nidulans SUDD protein, an extragenic suppressor of the heat-sensitive bimD6 mutation that fails to attach properly to the spindle microtubules at a restrictive temperature. The specific function of this gene has not yet been determined. 17353931,9602165,16344560,16177791,15489334,14702039,12477932 8780 NM_003831,AC026634,CH471088,AF013591,AK024958,AK057292,BC028360,BC039729,BQ221110,BX640929,CR610942,DB054065 NP_003822,EAX01151,EAX01152,EAX01153,AAC26080,AAH28360,AAH39729,O14730,Q0P693 Hs.445511 DKFZp779L1370|SUDD protein-coding 1320896 RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 1580863,2292150 10356400,8612133,12761501,14644197,7758105,12692549,12887920,15064760,18178551,18067272,17996648,17951993,17448597,17389591,17306544,17301840,17296724,17235653,16825191,16603398,16543241,16260783,16127453,15489334,15144186,15121855,14702039,14574404,14532286,12477932,11854271,11479302,11429546,11369754,11116146,11002422,11002417,10880512,10837247,10744744,10521396,10409763,10358032,10339433,9927690,9740801,9430227,9044836,8985253,8702708,7538908,14585990,14743216,14754897,10523854,15258597 2292150 8737 AL031963,AY682848,CH471087,AB208926,AJ420482,AK096523,BC126254,BC126256,BX348786,CR618624,U25994,U50062,NM_003804 NP_003795,CAD70625,AAT74626,EAW55115,EAW55116,EAW55117,EAW55118,BAD92163,AAI26255,AAI26257,AAC50137,AAC32232,Q13546,Q59H33 Hs.519842 GDB:9958850 FLJ39204|RIP|RIP1 protein-coding 1319357 RIPK2 receptor-interacting serine-threonine kinase 2 This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. 1580863 11087742,15657077,17353931,17468049,9642260,12761501,9705938,18079694,17851464,17355968,17192257,17075290,17054981,16920334,16824733,16582588,16492792,16421571,16418290,16354923,16344560,16189514,15761153,15691841,15620648,15489334,14638696,12975309,12775719,12755636,12459189,12138198,11894098,11894097,11536016,11487608,11432859,10880512,10719670,10559258,10329646,10224040,9575181,14743216,12477932 8767 NM_003821,AC004003,CH471060,AF027706,AF064824,AF078530,AI824070,AK075213,AY358813,AY358814,AY524045,AY562996,BC004553,CR592019,CR596906,DA040898 NP_003812,AAC24561,EAW91655,EAW91656,AAC34970,AAC25668,AAC27722,AAQ89172,AAQ89173,AAS94254,AAS75586,AAH04553,O43353,Q2TU65,Q6Q322 Hs.103755 GDB:9956867 CARD3|CARDIAK|CCK|GIG30|RICK|RIP2 protein-coding 1342902 RIPK3 receptor-interacting serine-threonine kinase 3 The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. 1580863 10339433,10358032,18025550,17827388,17114179,16844082,16429275,16344560,15896315,15208320,15064760,12477932,11734559,10818227,14743216 11035 NM_006871,AL096870,CH471078,AF156884,AK075275,AY453693,AY494982,AY494983,BC041668,BC062584,BE676675,DB274842 NP_006862,EAW66021,EAW66022,AAD39005,BAC11512,AAS16359,AAS75516,AAS75517,AAH41668,AAH62584,Q5J795,Q5J796,Q6P5Y1,Q8IUR8,Q8N2G9,Q9Y572 Hs.268551 GDB:9956238 RIP3 protein-coding 1323281 RIPK4 receptor-interacting serine-threonine kinase 4 The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. 1580863 10948194,18025152,17039240,14702039,12747765,12676934,12477932,12446564,11278382,10830953,8889548 54101 NM_020639,AP001615,AP001616,AP001743,CH471079,AB047783,AF308292,AJ278016,AK027424,AL137448,BC035755,BC110617,BC110618,BM979316 NP_065690,BAA95526,EAX09589,EAX09590,EAX09591,BAB56136,AAG48260,CAC04247,BAB55102,CAB70741,AAI10618,AAI10619,P57078,Q2TB16,Q96T11,Q9H281,Q9H4D1,Q9NTA1 Hs.517310 ANKK2|ANKRD3|DIK|MGC129992|MGC129993|PKK|RIP4 protein-coding 1604373 RIPK5 receptor interacting protein kinase 5 This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined. 17353931,17123648,15489334,15178406,12477932,10737800,9455484,8889548,7829101 25778 NM_015375,AC093422,CH471067,AB007941,AF068286,AJ420466,AY208850,AY429674,BC018303,BC048204,NM_199462,BC053627,BC060870,BC072406,BC117411,BF836208,BI494979,BI494980,BM685960,BQ946417,BU168830,BU170290,BU528180,CA950005 NP_955749,NP_056190,EAW91540,EAW91541,EAW91542,EAW91543,EAW91544,BAA32317,AAF65505,AAP42418,AAS55390,AAH48204,AAH53627,AAH60870,AAH72406,AAI17412,Q6XUX3 Hs.6874 DustyPK|HDCMD38P|KIAA0472|RIP5 protein-coding 1641968 RIPPLY1 ripply1 homolog (zebrafish) 12477932 92129 NM_138382,AL591849,CH471120,BC007652,BC101998,BC105691,BC105692,BC110436,BC127250 NP_612391,CAI40159,CAI40160,EAX02733,AAI05692,AAI05693,AAI10437,AAI27251,Q0D2K3,Q96IB9 Hs.334726 RP11-321G1.2 protein-coding 1343782 RIT1 Ras-like without CAAX 1 RIT belongs to the RAS (HRAS; MIM 190020) subfamily of small GTPases (Hynds et al., 2003 [PubMed 12668729]).[supplied by OMIM] 1580863 8824319,8918462,10712923,18381890,16123585,15761153,15632082,14767908,12668729,12477932,10545207,10869344 6016 NM_006912,AL139128,AL355388,CH471121,AF084462,AF493923,BC104186,BC104187,BM546985,CR407639,U71203,U78165,Y07566 NP_008843,CAH69943,CAH69944,CAH72621,CAH72622,EAW53024,AAD13021,AAM12637,AAI04187,AAI04188,CAG28567,AAB42213,AAB64246,CAA68851,Q5VY89,Q5VY90,Q92963 Hs.491234 GDB:3837793 MGC125864|MGC125865|RIBB|RIT|ROC1 protein-coding 1316971 RIT2 Ras-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM] 8824319,8918462,10712923,16157584,16122393,15489334,12934100,12477932,12099688,10545207,16189514 6014 NM_002930,AC025480,AC091169,AC100779,CH471088,AF493922,AY563951,BC018060,U71204,U78164,U78166,Y07565 NP_002921,EAX01432,AAM12636,AAS75332,AAH18060,AAB42214,AAB64245,AAB64247,CAA68850,Q99578 Hs.464985 GDB:3837792 RIBA|RIN|ROC2 protein-coding 1320101 RLBP1 retinaldehyde binding protein 1 The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. 1599618,1599620,1580863 9326942,18317528,17652763,17249612,17065479,15953459,15865448,15489334,15234312,14744877,14718298,12536149,12536144,12477932,11868161,11453974,11329013,11176989,10654176,10102299,10102298,9541407,9068383,8889548,8698076,7929238,3198595,1733864,16189514 1599618,1599620 6017 NM_000326,AC124068,CH471101,L34219,BC004199,BF940774,BG205561,BM704704,BM921294,BX490622,J04213 NP_000317,EAX02038,AAA65123,AAH04199,AAA60251,P12271 Hs.1933 GDB:127341 CRALBP|MGC3663 protein-coding 1602646 RLBP1L1 retinaldehyde binding protein 1-like 1 18271718,16802092,14702039,12477932 157807 NM_173519,AC013543,AC023866,AC025133,AC090094,CH471068,AF445194,AK091641,AK094567,AK125153,AY094971,BC042617,BC048992,CR591744,CR599613 NP_775790,EAW86838,EAW86839,AAP97323,BAC03711,AAM15733,AAH42617,Q8IUQ0 Hs.654963 CRALBPL|FLJ37248|MGC34646 protein-coding 1604529 RLBP1L2 retinaldehyde binding protein 1-like 2 14702039,12477932 134829 NM_001010852,AL591428,CH471051,AK095527,BC101376,BC101377 NP_001010852,CAI12305,CAI12306,CAI12307,EAW48160,EAW48161,EAW48162,AAI01377,AAI01378,Q5SYC1 Hs.486361 C6orf212|C6orf213|MGC120572|bA160A10.4 protein-coding 1313242 RLF rearranged L-myc fusion 1580863 16696853,8545128,17081983,16710414,15489334,15231748,12477932,10545207,1649386,14597674 6018 NM_012421,AL050341,AL356424,AL512599,AL929567,CH471059,AB209099,BC113666,BM542854,U22377 NP_036553,CAI21999,CAI11028,CAH71081,EAX07236,BAD92336,AAI13667,AAC50396,Q13129,Q59GL0 Hs.205627 GDB:135695 MGC142226|ZN-15L|ZNF292L rearranged l-myc fusion sequence protein-coding 1603981 RLFP rearranged L-myc fusion pseudogene 8545128 57008 NG_001289,U22379 pseudo 1344895 RLN1 relaxin 1 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. This encoded protein is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds; however, their exact cleavage sites have not been described. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. This gene has multiple polyadenylation sites. There are multiple alternatively spliced transcript variants described for this gene but their full length nature is not known yet. 1580863 6298628,17804602,17509748,17363522,16303766,16172427,15956746,15956736,15956731,15956702,15956701,15956699,15695505,15489334,15164053,12865351,12477932,11809971,10750025,10601981,9730618,9346823,8800640,8735594,7958621,7829601,6548703,6548702,3963064,2076464,2040595,2005217,1656049,1572287 6013 NM_006911,A07364,AF104934,AL135786,CH471071,S82681,S83200,V00577,V00578,AF057705,BC005956,X00949,A06846,A06926,A17329 NP_008842,CAA00658,AAD21967,CAC04179,EAW58767,EAW58768,EAW58769,AAD14429,CAA23838,CAA23839,AAH05956,CAA25461,P04808,CAA00599,CAA00603,CAA01325,ABM84228,ABM87467 Hs.368996 GDB:119552 H1|RLXH1|bA12D24.3.1|bA12D24.3.2 protein-coding 1348053 RLN2 relaxin 2 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. The active form of the encoded protein consists of an A chain and a B chain but their cleavage sites are not definitely described yet. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. 1580863 6548702,17653089,17616862,17363522,16877360,16580233,16049981,15967869,15956746,15956728,15956727,15956719,15956711,15956696,15489334,15164053,15070778,12614168,12590922,12506116,12477932,12198562,11313185,10750025,10601981,9730618,8735594,7958621,7916973,7829601,6548703,2076464,2040595,2005217,1656049,1572287 6019 NM_134441,NM_005059,AF104935,AL135786,CH471071,BC126415,BC126419,X00948,A06925,A17315 NP_604390,NP_005050,AAD21961,CAC04177,EAW58770,EAW58771,AAI26416,AAI26420,CAA25460,P04090,CAA00602,CAA01324 Hs.127032 GDB:119553 H2|RLXH2|bA12D24.1.1|bA12D24.1.2 protein-coding 1345239 RLN3 relaxin 3 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3. RLN1 and RLN2 share high sequence homology. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. The protein encoded by this gene is a member of the relaxin family. The active form of the encoded protein consists of an A chain and a B chain but their cleavage sites are not definitely described yet. It may play a role in neuropeptide signaling processes. 1580863 16365033,15956730,15956686,15845619,15465925,14522968,14522967,12975309,12686464,12506116,12477932,11689565 117579 NM_080864,AC022098,CH471106,AB076563,AF447451,AY358181,BC110069 NP_543140,EAW84388,BAC53758,AAL40345,AAQ88548,Q8WXF3 Hs.352155 GDB:11504375 H3|RXN3|ZINS4|insl7 protein-coding 1605284 RLTPR RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 15588584,12477932 146206 NM_001013838,AC009095,AC010530,AB113647,AK090421,AL832446,BC043154 NP_001013860,BAD26751,BAC03402,AAH43154,Q6F5E8,Q86XL4,Q8NF58 Hs.611432 LRRC16C protein-coding 1349425 RMD1 rippling muscle disease 1 7936247 6022 GDB:448902 1321710 RMI1 RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM] 737633 17900800,17728255,17081983,16595695,16537486,15775963,15489334,15342556,15164053,14702039,12477932,12973351 737633 80010 NM_024945,AL354733,AL732446,CH471089,AJ420435,AK022950,BC020606,BC032494,BC039999,BC044571,BC053549,BC064937,BP327553,DN997105 NP_079221,EAW62682,EAW62683,BAB14325,AAH20606,AAH32494,AAH39999,AAH53549,AAH64937,Q05CW3,Q9H9A7,Q05BX1 Hs.284137 BLAP75|C9orf76|FLJ12888|RP11-346I8.1 chromosome 9 open reading frame 76 protein-coding 1319942 RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae) 16344560,15489334,14702039,14574404,12477932 55005 NM_017909,AL590413,AL590543,CH471051,AK000634,AK026480,AK292339,BC012081,BC070271,BC106065,BC119683,BG754516,DA747450 NP_060379,CAI13588,CAI13594,CAI13595,CAI10940,EAW47746,EAW47747,EAW47748,EAW47749,BAA91299,BAB15490,BAF85028,AAH12081,AAH70271,AAI06066,AAI19684,Q5SZ82,Q9H5X7,Q9NWS8 Hs.622819 C6orf96|FLJ20627|MGC117362|MGC149570|MGC88260|RMD1|bA351K16|bA351K16.3 chromosome 6 open reading frame 96 protein-coding 1604311 RMND5A required for meiotic nuclear division 5 homolog A (S. cerevisiae) 17467196,17452337,15815621,15489334,15231748,14702039,12477932,16189514 64795 NM_022780,AC064848,CH471053,AK022815,AK023972,AK025448,AL050139,AL832022,BC012165,BC047668,CR604908 NP_073617,AAX88863,EAW99442,EAW99443,EAW99445,BAB14257,BAB14746,BAB15135,AAH12165,AAH47668,Q9H871 Hs.75277 CTLH|FLJ12753|FLJ13910|FLJ21795|MGC78451|RMD5|p44CTLH protein-coding 1604317 RMND5B required for meiotic nuclear division 5 homolog B (S. cerevisiae) 16189514,15862967,15489334,15231748,14702039,12975309,12477932 64777 NM_022762,AC136632,CH471165,AK025971,AK093481,AK093622,AK094065,AK122692,AK125337,AL137381,AL713670,AY359092,BC009911,CR598018,CR599104,CR607362,CR609872,CR616716,DQ494789 NP_073599,EAW53849,EAW53850,BAB15303,BAC04276,CAH56381,CAD28476,AAQ89450,AAH09911,ABF50942,Q1HE27,Q659D3,Q8N9Q5,Q96G75 Hs.519804 DKFZp434K0926|FLJ22318 protein-coding 1349985 RMRP RNA component of mitochondrial RNA processing endoribonuclease Mitochondrial RNA-processing endoribonuclease cleaves mitochondrial RNA complementary to the light chain of the displacement loop at a unique site (Chang and Clayton, 1987 [PubMed 3582365]). The enzyme is a ribonucleoprotein whose RNA component is a nuclear gene product. The RNA component is the first RNA encoded by a single-copy gene in the nucleus and imported into mitochondria. The RMRP gene is untranslated, i.e., it encodes an RNA, not a protein.[supplied by OMIM] 17937437,17701897,17489853,16838329,16832578,16254002,16252239,16244706,12107819,11940090,11207361,3582365,1623519,10352175,15096576 6023 NR_003051,AF334829,AL357874,M29916,AA593275 GDB:120348 CHH|RMRPR miscrna 1342614 RN5S1@ RNA, 5S cluster 1 4437633 6025 GDB:119554 1353418 RN5S2@ RNA, 5S cluster 2 7956368 6026 GDB:547759 1353780 RN5S3@ RNA, 5S cluster 3 7736795 6027 GDB:593702 1345130 RN7SK RNA, 7SK small nuclear 17381310,16362050,15994294,14627702,11713533,11713532,8139910,2443710,1721058,1646389,954090,12832472 125050 NR_001445,AL162581,X05490 GDB:344779 7SK rna, 7sk, nuclear snrna 1351215 RN7SL1 RNA, 7SL, cytoplasmic 1 18067920,17881443,15667936,12244299,12086622,6084597 6029 NR_002715,AL139099,X04248 7L1a|7SL|RN7SL miscrna 1346835 RN7SL2 RNA, 7SL, cytoplasmic 2 6084597 378706 X04249 7L30.1|7SL1c protein-coding 1343539 RN7SL3 RNA, 7SL, cytoplasmic 3 15667936,6084597 378707 X04251 7L30.2 protein-coding 1346682 RN7SLP1 RNA, 7SL, cytoplasmic, pseudogene 1 6084597 6030 NG_002425,AC090950,X04250 GDB:366620 7L28 pseudo 1343363 RN7SLP2 RNA, 7SL, cytoplasmic, pseudogene 2 6084597 6031 NG_002426,AL353733,X04252 GDB:366623 7LEM1 pseudo 1344110 RN7SLP3 RNA, 7SL, cytoplasmic, pseudogene 3 6084597 6032 NG_002427,AC000029,X04253 GDB:366626 7L7 pseudo 1349865 RN7SLP4 RNA, 7SL, cytoplasmic, pseudogene 4 6084597 6033 NG_002428,AC002454,CH236949,X04254 GDB:366628 7L23 pseudo 1351039 RN7SLP5 RNA, 7SL, cytoplasmic, pseudogene 5 6084597 6034 NG_002429,AC007384,CH236947,X04255 GDB:366631 7L63 pseudo 1320822 RNASE1 ribonuclease, RNase A family, 1 (pancreatic) This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. 1580863 8049276,18219569,17705507,17627168,17350650,17234723,17224235,17109515,16780873,16751256,16738129,16597833,16114055,16054567,15528350,15489334,12939146,12626415,12477932,12237131,12210760,12022038,11848924,11591351,11412105,11342552,11264578,11021969,10632727,9311977,8588814,8280059,7649283,7492594,6201087,3202829,2383019,2049798,1741299,1587793,16189514 6035 AV710596,BC005324,BC022882,BF106121,BG539567,BI599530,BI753463,BI760598,BM007311,BM919747,BP385178,CB993343,CD703706,CR450318,CR593433,CR595949,CR600644,S79281,NM_002933,NM_198235,NM_198234,NM_198232,AL133371,CH471078,DQ494867,X62946,X79235,AK098375,AK129871 AAH05324,AAH22882,CAG29314,AAB35096,P07998,Q6ICS5,NP_002924,NP_937878,NP_937877,NP_937875,EAW66437,EAW66438,ABF00144,CAA44718,CAA55817 Hs.78224 GDB:125275 MGC12408|RIB1|RNS1 protein-coding 1347818 RNASE10 ribonuclease, RNase A family, 10 (non-active) 15676279,12920233,12477932 338879 NM_001012975,AL355075,CH471078,AY665805,BC133002,BC133028 NP_001012993,EAW66457,AAV87183,AAI33003,AAI33029,Q5GAN6 Hs.451057 RNASE9 protein-coding 1602837 RNASE11 ribonuclease, RNase A family, 11 (non-active) 14702039,12975309,12477932,15676279,15489334 122651 NM_145250,AL163195,CH471078,CS072280,AI809974,AK098687,AK292348,AY358794,AY665806,BC025410,BX161458,CB995247 NP_660293,EAW66455,EAW66456,CAI93418,BAC05378,BAF85037,AAQ89154,AAV87184,AAH25410,CAD61920,Q5GAN5,Q8TAA1 Hs.112761 C14orf6 protein-coding 1353641 RNASE12 ribonuclease, RNase A family, 12 (non-active) 15676279,12477932 493901 NM_001024822,AL163195,AY665807,BC130347,BC130349 NP_001019993,AAV87185,AAI30348,AAI30350,Q5GAN4 Hs.112761,Hs.690548 protein-coding 1344390 RNASE13 ribonuclease, RNase A family, 13 (non-active) 15676279,12477932 440163 NM_001012264,AL161668,AY665808,BC044831 NP_001012264,AAV87186,AAH44831,Q5GAN3 Hs.666729 protein-coding 1349318 RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 1580863 2734298,12855582,18195069,17965582,17927842,17351112,16428483,16014847,15755456,15528350,15489334,15356558,12606041,12578357,12477932,11959927,11916383,11876642,11311552,11282395,11154698,11102386,10741866,9620664,9450956,8759319,8471426,7947762,7547911,3926759,3458170,3182786,3166997,2745977,2591744,2387583,1587793,1577491,1464733 6036 BC093678,BC093680,BC096059,M24157,M28129,M30510,X55988,AF294007,AF294008,AF294009,AF294010,AF294011,AF294012,AF294013,AF294014,AF294015,AF315825,AF316619,AJ408458,AL355922,CH471078,X16546,X55987,NM_002934 AAH93678,AAH93680,AAH96059,AAA52337,AAA50284,AAC82505,CAA39460,P10153,NP_002925,AAG31577,AAG31578,AAG31579,AAG31580,AAG31581,AAG31582,AAG31583,AAG31584,AAG31585,AAK07563,CAC27640,EAW66435,CAA34546,CAA39459 Hs.728 GDB:125276 EDN|RNS2 protein-coding 1352667 RNASE3 ribonuclease, RNase A family, 3 (eosinophil cationic protein) 1580863 2745977,10706854,18293932,18087674,17944807,17927842,17885861,17852809,17804567,17726151,17675527,17587163,17573858,17507019,17362255,17250693,17223693,17088327,16879306,16014847,16010966,15928844,15489334,15317478,15295703,15007353,14630983,12974194,12530121,12524255,12477932,12356310,12100059,11959927,11552948,11404391,11102386,11034418,10903870,10606511,10336457,3520144,3458170,2501794,2473157,1577491,1464733,2387583 6037 AF294019,AF294020,AF294021,AF294022,AF294023,AF294024,AF294025,AF294026,NM_002935,AF441204,AF441205,AF441206,AL133371,CH471078,X16545,X55990,BC096060,BC096061,BC096062,BX280390,M28128,X15161 NP_002926,AAG31589,AAG31590,AAG31591,AAG31592,AAG31593,AAG31594,AAG31595,AAG31596,AAL35279,AAL35280,AAL35281,EAW66436,CAA34545,CAA39462,AAH96060,AAH96061,AAH96062,AAA50283,CAA33251,P12724 Hs.73839 GDB:125277 ECP|RNS3 protein-coding 736007 RNASE4 ribonuclease, RNase A family, 4 The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in two transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. 1580863 7742370,15489334,14702039,12477932,11752456,9878400,9366257,8223579,7501448,3467790,16189514 6038 NM_194431,NM_002937,AL163636,CH471078,U36775,AK092422,BC015520,BX247985,BX248010,CR597178,CR622207,CR623403,D37931 NP_002928,NP_919412,EAW66448,AAA96750,AAH15520,CAD62319,CAD62338,BAA07150,P34096,Q53XB4 Hs.283749 GDB:6108046 MGC9306|RNS4 protein-coding 1353772 RNASE6 ribonuclease, RNase A family, k6 1580863 8836175,15676279,15489334,12477932,9647635 6039 NM_005615,AL133371,CH471078,U64998,AI151384,BC020848,CR456965 CAG33246,Q6IB39,Q93091,NP_005606,EAW66440,EAW66441,EAW66442,AAC51848,AAH20848 Hs.23262 GDB:5560454 RNS6|RNasek6 protein-coding 1344446 RNASE7 ribonuclease, RNase A family, 7 1580863 12244054,16344560,15676279,15489334,12975309,12527768,12477932 84659 NM_032572,AL161668,CH471078,AI150610,AJ131212,AJ306608,AJ306609,AJ306610,AK292697,AY170392,AY359097,BC074960,BC112334,DB153740 NP_115961,EAW66418,EAW66419,CAC20410,CAC84462,CAC84457,CAC84458,BAF85386,AAO12510,AAQ89455,AAH74960,AAI12335,Q9H1E1 Hs.525206 MGC133220 protein-coding 1353668 RNASE8 ribonuclease, RNase A family, 8 1580863 11861908,17116644 122665 NM_138331,AF473854,AL161668,CH471078,BC137538 NP_612204,AAL89644,EAW66417,AAI37539,Q8TDE3 Hs.553572 protein-coding 1343484 RNASE9 ribonuclease, RNase A family, 9 (non-active) 15974301,15676279,12920233,12508121,12477932 390443 NM_001110356,NM_001110357,NM_001110358,NM_001001673,NM_001110359,NM_001110360,NM_001110361,AL163195,AF382949,AY665804,AY907670,BC130311,BC130313,EF061296,EF061297,EF061298,EF061299,EF061300,EF061301,EF061302,EF061303,EF061304 NP_001001673,NP_001103826,NP_001103827,NP_001103828,NP_001103829,NP_001103830,NP_001103831,AAQ02792,AAV87182,AAX86045,AAI30312,AAI30314,ABP97451,ABP97452,ABP97453,ABP97454,ABP97455,ABP97456,ABP97457,ABP97458,ABP97459,P60153,Q6KG53 Hs.533972 h461 protein-coding 1319116 RNASEH1 ribonuclease H1 1580863 9799596,18337749,17964265,17028158,17028157,16303743,15815621,15489334,15205459,14960586,14702039,14506260,12667461,12477932,12473655,12036296,11856317,10497183,9894807,9512096 246243 NM_002936,AC108488,CH471053,AF039652,AF048994,AF048995,AJ224117,AK075490,CR596638,AK096913,BC002973,BI553044,BT019670,CR541820,CR594242 NP_002927,AAX82026,EAX01061,AAC09261,AAC78563,AAC78564,CAA11835,O60930,ABM83523,ABM86750,AAH02973,AAV38476,CAG46619 Hs.568006 GDB:11508463 H1RNA protein-coding 1604714 RNASEH1P1 ribonuclease H1 pseudogene 1 12036296,11856317,9799596 284203 NG_004111,AC090774 GDB:9863229 RNASEH1|RNASEH1P|RNH1 pseudo 1345490 RNASEH1P2 ribonuclease H1 pseudogene 2 12036296 390766 NG_004110,AC098850 pseudo 1352107 RNASEH1P3 ribonuclease H1 pseudogene 3 12036296 199827 NG_001567,AL035414 pseudo 1316328 RNASEH2A ribonuclease H2, subunit A Of the multiple RNases H in mammals, RNase HI is the major enzyme and shows increased activity during DNA replication. It shows more homology to the RNase HII of Escherichia coli. 1580863 9789007,16845400,15489334,12477932,8889548 10535 NM_006397,AC020934,CH471106,AY363912,BC011748,BE560339,BG825340,BM664190,CB240995,CR456841,CR596662,CR597970,CR600858,CR602067,CR602864,CR605262,CR614807,CR618002,CR619517,CR625632,CR626283,Z97029 NP_006388,EAW84313,AAQ64005,AAH11748,CAG33122,CAB09725,O75792,Q6IBG3,Q6UQL6 Hs.532851 GDB:9957589 AGS4|JUNB|RNASEHI|RNHIA|RNHL protein-coding 1606240 RNASEH2B ribonuclease H2, subunit B RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). 17213182,16845400,15489334,15057823,14702039,12477932,9373149,8125298 79621 AL137881,CH471075,AK021774,AK022667,AK124228,AK223340,AY764036,BC001397,BC005088,BC007332,BC010174,NM_024570,BC036744,CR602872,CR608889,CR621824,DT216141 NP_078846,CAI13913,EAX08863,EAX08864,BAB13892,BAD97060,AAX13343,AAH01397,AAH05088,AAH07332,AAH10174,AAH36744,Q05DR2,Q5TBB1,Q8N451 Hs.306291 AGS2|DLEU8|FLJ11712 protein-coding 1604574 RNASEH2C ribonuclease H2, subunit C This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. 17846997,16845400,15489334,14702039,12477932,9373149,8244390,8125298 84153 NM_032193,AF346605,AP001266,CH471076,AF312034,AF346606,AK024627,AK225131,BC000831,BC023588,BC061891,BM921525,CR602154,L08647 NP_115569,AAO49176,EAW74433,EAW74434,EAW74435,AAL87739,AAO49177,BAB14937,AAH23588,Q8TDP1,ABM83203,ABM86403 Hs.397010 AGS3|AYP1|FLJ20974|MGC22934 protein-coding 1604138 RNASEK ribonuclease, RNase K 17881363,12477932 440400 NM_001004333,AC040977,AA633512,AA843796,AK289930,AM746459,BC032510,BC036317,BC040148,BC051802,BC062705,BC070349,BC095436,CB160051,CR600192,CR607998 NP_001004333,BAF82619,CAN89245,AAH40148,AAH51802,AAH62705,AAH95436,Q502Z2,Q6P5S7 Hs.511801,Hs.632232 MGC71993 protein-coding 1346643 RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. 1599614,1580863,2292000,2291997,2291998 7514601,18436282,18289577,18189233,15330212,15107989,14695991,14570908,12915880,12653398,12624151,12590567,12477932,12415269,12167701,12145743,12118002,12073768,12034027,12022038,11941539,11799394,11585831,11333017,11063255,10708513,10454983,9862963,9856285,9497242,9366257,8910276,7688298,7680958,7539425,7514564,1565627,17400356,17307214,17237228,17234723,17224235,17200614,17150764,17115900,17020975,16944274,16869093,16627618,16537704,16235172,16234235,16203993,16166078,16114055,15981205,15908960,15849753,15824169,15714208,17908993,17407163,15534086 1599614,2292000,2291997,2291998 6041 NM_021133,AF172072,AL138776,CH471067,L10381,BC090934,BC114433,BC115697,BQ003187,BU940316,BX097443,CB268440,CR627369,DQ352452 NP_066956,CAH71322,EAW91128,AAA18032,AAH90934,AAI14434,AAI15698,CAH10468,ABC74581,Q05823,Q1RLL8,Q5W0L2,Q6AI46 Hs.518545 GDB:139101,GDB:5215209 DKFZp781D08126|MGC104972|MGC133329|PRCA1|RNS4 2293407 PRSTS277_H protein-coding 1605687 RNASEN ribonuclease type III, nuclear Members of the ribonuclease III superfamily of double-stranded (ds) RNA-specific endoribonucleases participate in diverse RNA maturation and decay pathways in eukaryotic and prokaryotic cells (Fortin et al., 2002 [PubMed 12191433]). The RNase III Drosha is the core nuclease that executes the initiation step of microRNA (miRNA) processing in the nucleus (Lee et al., 2003 [PubMed 14508493]).[supplied by OMIM] 10976766,15574589,17626073,17581865,17255951,17121874,17081983,16344560,15987463,15932881,15565168,15531877,15489334,14702039,14508493,12477932,12191433,10948199,10713462,15589161 29102 NM_013235,NM_001100412,AC008768,AC022417,AC106802,CH471118,AA917625,AB209501,AF116910,AF189011,AJ242976,AK001121,AK026563,BC024261,BC041162,BC054003,BX647724,CR607257,CR613595,DB065470 NP_037367,NP_001093882,EAX10767,EAX10768,EAX10769,EAX10770,BAD92738,AAD29637,AAF80558,CAB45133,BAA91511,AAH41162,AAH54003,Q59FF9,Q9NRR4 Hs.97997 DROSHA|ETOHI2|HSA242976|RANSE3L|RN3|RNASE3L protein-coding 1320518 RNASET2 ribonuclease T2 This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. 1580863 9192857,16620762,15809705,15489334,14702039,14574404,12477932,11821951,11314033 8635 NM_003730,AL133458,AL159163,CH471051,AJ419865,AJ419866,AJ419867,AK000385,AK001769,BC001660,BC001819,BC019871,BC036282,BC039713,BC041056,BC051912,CB130245,CR592644,CR613072,CR621306,CR623299,DQ884402,U85625 NP_003721,CAI21597,CAI21598,CAI21600,CAI15001,EAW47511,EAW47512,EAW47513,EAW47514,EAW47515,EAW47516,EAW47517,EAW47518,EAW47519,CAD12030,CAD12031,CAD12032,BAA91131,BAA91896,AAH01660,AAH01819,AAH39713,AAH51912,ABI63369,AAC51363,O00584,Q5TCT0,Q5TCT1,Q5TCT2,Q8TCU1,Q9NV61,Q9NX85 Hs.529989 RNASE6PL|RP11-514O12.3|bA514O12.3 protein-coding 1314903 RND1 Rho family GTPase 1 Members of the Rho GTPase family, such as RND1, regulate the organization of the actin cytoskeleton in response to extracellular growth factors (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM] 1580863 9531558,11095956,17916560,16311049,15738000,15489334,12730235,12477932,11980706,11940653,11786539,11108845,10664463,12842009,15297673 27289 NM_014470,AC117498,CH471111,AB040147,AF498967,AK124288,AK292762,AL359573,BC026356,CR602286,CR604397,CR621792,Y07923 NP_055285,EAW58019,BAB17851,AAM21114,BAF85451,AAH26356,CAA69228,Q92730 Hs.124940 ARHS|FLJ42294|RHO6|RHOS protein-coding 1346063 RND2 Rho family GTPase 2 This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. 8938427,12590651,16481321,16311049,16189514,15489334,14702039,12477932,12244061,11940653,11931639,9531558,8889548,1909153,12730235,12842009 8153 NM_005440,AC135721,CH471152,L78833,AB209778,AF498968,AK096367,AK290199,BC018096,BC094842,BC104986,BC104990,BT019394,BU687800,DB502558,X95456 NP_005431,EAW60919,EAW60920,AAC37595,BAD93015,AAM21115,BAF82888,AAH18096,AAH94842,AAI04987,AAI04991,AAV38201,CAA64726,P52198,Q59EN3 Hs.603111 GDB:9954560 ARHN|RHO7|RhoN protein-coding 1351005 RND3 Rho family GTPase 3 Members of the Rho family of Ras-related GTPases, such as ARHE, regulate the organization of the actin cytoskeleton in response to extracellular growth factors. Like Ras (MIM 190020), Rho family members appear to cycle between an inactive GDP-bound form and an active GTP-bound form. Three major regulators of Rho activity have been identified: RhoGDIs, which interact with the GDP-bound Rho proteins to keep them in a resting complex (see MIM 601925); GEFs, which promote GDP/GTP exchange leading to activation of Rho proteins (see MIM 601855); and GAPs, which stimulate GTP hydrolysis and return the activated Rho protein to its inactive form (see MIM 602680) (Nobes et al., 1998 [PubMed 9531558]).[supplied by OMIM] 8649376,9531558,18204440,17182035,17174923,16311049,15777789,15754346,15489334,12842009,12773565,12477932,12163169,11940653,8889548,12730235,15778465,16189514 390 NM_005168,AC074097,AC093738,CH471058,AF498969,AL702945,BC012513,BQ440721,BT006769,BX460517,CF127383,CR542038,CR542070,CR597613,CR607069,CR626467,S82240,X95282,X97758 Q4ZFY0,Q53RZ3,Q6FGN7,Q6FGR9,ABM81591,ABM81592,ABM84773,ABW03618,NP_005159,AAY15014,AAX88953,EAX11524,EAX11525,EAX11526,EAX11527,EAX11528,AAM21116,AAH12513,AAP35415,CAG46835,CAG46867,AAB47133,CAA64603,CAA66352,P61587 Hs.6838,Hs.707056 GDB:5981240 ARHE|Rho8|RhoE|memB protein-coding 1319543 RNF10 ring finger protein 10 The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. 1580863 12168954,10697961,9039502,16344560,16335786,16169070,15489334,14702039,12477932 9921 NM_014868,AC063943,CH471054,AB027196,AK094011,AK097807,AK126274,AL389976,AL578551,BC016622,BC031596,BC101709,BC101715,BM828423,BQ015862,BT006974,CR591689,CR597561,D87451,DA103961,DB526099 BAA84708,NP_055683,EAW98200,EAW98201,EAW98202,EAW98203,EAW98204,CAB97533,AAH16622,AAH31596,AAI01710,AAI01716,AAP35620,BAA13392,Q8N5U6,AAP36359,ABM92251,ABM84731 Hs.442798 GDB:9785399 KIAA0262|MGC126758|MGC126764|RIE2 protein-coding 1349364 RNF103 ring finger protein 103 The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. 1580863 9070305,15815621,15489334,14702039,12658376,12477932,11071867 7844 NM_005667,AB052743,AC015971,CH471053,AK122978,BC022477,BC035053,BC110333,BQ018198,CD109559,CR608249,D76444 NP_005658,BAB20900,AAX93079,EAW99446,EAW99447,AAH35053,AAI10334,BAA19739,O00237,ABZ92266 Hs.469199 KF1|MGC102815|MGC41857|ZFP103|hkf-1 protein-coding 1314582 RNF11 ring finger protein 11 The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). 1580863 10673045,14755250,17917589,16925951,16344560,16123141,15489334,15231748,14562029,14559117,12477932,12107109,11042109,10810093,16189514 26994 NM_014372,AL162430,CH471059,AA224090,AB024703,AF151881,AI817633,AK293047,AL049294,BC020964,BC036670,BC047654,CR615970,DB265274,DB564333 NP_055187,CAI13140,EAX06830,EAX06831,BAA84683,AAD34118,BAF85736,AAH20964,AAH47654,Q5T7R8,Q9Y3C5 Hs.708026 GDB:10013903 CGI-123|MGC51169|SID1669 protein-coding 1320805 RNF111 ring finger protein 111 The protein encoded by this gene contains a RING finger domain, a motif known to be involved in protein-protein and protein-DNA interactions. The mouse counterpart of this gene (Rnf111/arkadia) has been shown to genetically interact with the transforming growth factor (TGF) beta-like factor Nodal, and act as a modulator of the nodal signaling cascade, which is essential for the induction of mesoderm during embryonic development. 1580863 18059455,17591695,17510063,16601693,15489334,15231748,14702039,14657019,12477932,11516970,11298453,11298452,16189514 54778 NM_017610,AC025918,AC092757,CH471082,AK095327,AK131304,AK131488,AL157474,AL832089,BC010369,BC020984,BC060862,BX538130,BX647259 NP_060080,EAW77554,EAW77555,EAW77556,EAW77557,EAW77558,EAW77559,EAW77560,EAW77561,EAW77562,BAC04531,BAD18471,BAD18633,CAB75669,AAH10369,AAH20984,AAH60862,CAD98031,Q6ZNA4 Hs.404423 ARK|DKFZp313E0731|DKFZp686H1966|DKFZp761D081|FLJ38008 protein-coding 1344435 RNF113A ring finger protein 113A 1580863 17081983,15772651,15489334,15345747,12477932,9224902 7737 NM_006978,AC002477,CH471161,CS185534,AF086291,BC000832,BC020556,BT007175,CR595882,CR600330,CR608070,CR610769,CR618288,X98253 NP_008909,AAB67605,EAW89841,CAJ42715,AAH00832,AAH20556,AAP35839,CAA66907,O15541 Hs.458365 GDB:4365606 RNF113|ZNF183 protein-coding 1352774 RNF113B ring finger protein 113B 15489334,15057823,12477932 140432 NM_178861,AL136300,CH471085,AF539427,AI935007,BC017585,BC025388 NP_849192,CAC42525,EAX08983,AAN33063,AAH17585,AAH25388,Q5JVJ0,Q8IZP6,ABZ92100 Hs.296045 GDB:11508185 MGC26599|RNF161|ZNF183L1|bA10G5.1 zinc finger protein 183-like 1 protein-coding 1351517 RNF11P2 ring finger protein 11 pseudogene 2 170543 NG_001052,AL121582 GDB:11507604 RNF11B|bA280O9.1 ring finger protein 11b, pseudogene pseudo 1352466 RNF12 ring finger protein 12 The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be a ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Alternatively spliced transcript variants encoding the same protein have been reported. 1580863 11013082,14702039,12874135,12477932,11882901,10508479,10431247,16189514 51132 NM_183353,NM_016120,AJ271670,AL513007,CH471104,AF086467,AF155109,AI968256,AK001334,AL712605,BC002451,BC013357,BG259627 NP_899196,NP_057204,CAC14228,CAI41712,EAW98639,EAW98640,AAD42875,BAA91632,AAH13357,Q96D38,Q9NVW2,ABM84426,ABM87497 Hs.653288 GDB:10030302 MGC15161|NY-REN-43|RLIM protein-coding 1317294 RNF121 ring finger protein 121 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. Three of them are supported by at least two independent transcripts or ESTs, the full length natures of others are not clear. 15489334,14702039,12477932 55298 NM_018320,NM_194452,NM_194453,AP002490,CH471076,CQ834452,CQ834588,AK001961,AK023139,AK094508,AL833638,BC009672,BC063680,BC093084,BC117273,BG328761,BG428563,BX463021,CR457298,CR625242 Q9NUW5,NP_060790,NP_919434,NP_919435,EAW74807,EAW74808,EAW74809,EAW74810,EAW74811,CAH05441,CAH05509,BAA92002,BAB14423,AAH09672,AAH63680,AAI17274,CAG33579,Q9H920,AAI41465 Hs.368554 FLJ11099 protein-coding 1352221 RNF122 ring finger protein 122 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. 16778963,16751333,16344560,15489334,14702039,12477932,10737800,8744354,7601449 79845 NM_024787,AC013603,CH471080,AK022588,AU124463,BC093884,BC101573,BF847236,CR623897,D38656 NP_079063,EAW63395,BAB14115,AAH93884,AAI01574,Q9H9V4 Hs.151237 FLJ12526|MGC126622 protein-coding 1350672 RNF123 ring finger protein 123 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. 1580863 17353931,16381901,16227581,15746103,15531880,15498874,15489336,15489334,15231748,14702039,12477932,11256614,11230166,11076863 63891 NM_022064,AC099668,AF370367,AK022627,AK026968,AK090632,AK096353,AK126883,AL136729,AL832034,AL832138,AL832344,AY744152,BC041145,BC057392,BC088801,BC112900,BC130632,CR618929,CR627051 NP_071347,AAQ15203,BAB14139,BAB15607,CAB66663,AAU93470,AAH41145,AAH57392,AAH88801,AAI30633,Q0JU71,Q5XPI4,CAL37940 Hs.553723 DKFZp686C2222|FLJ12565|FP1477|KPC1|MGC163504 protein-coding 1315557 RNF125 ring finger protein 125 This gene encodes a novel E3 ubiquitin ligase that contains an N-terminal RING finger domain. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. 1580863 17990982,17643463,15843525,15489334,14702039,12974981,12477932,9373149,8744354,8125298 54941 NM_017831,AC009831,AC011825,CH471088,AK000463,AK027134,AK225518,BC012021,BI666910,BM469263,BU500546 NP_060301,EAX01278,BAA91182,AAH12021,Q96EQ8 Hs.633703 FLJ20456|MGC21737|TRAC1 protein-coding 1314381 RNF126 ring finger protein 126 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. 16189514,15489334,14702039,14667819,12477932,8744354,14743216 55658 NM_194460,NM_017876,AC004156,AC004449,CH471242,BC001442,BC025374,BM558139,BM810439,CA440294,CR613869,CR624590,AK000559,AL360265 NP_919442,NP_060346,AAC06149,AAH01442,AAH25374,O60372,EAW61167,EAW61168,EAW61169,EAW61170,EAW61171,EAW61172,EAW61173,BAA91254,CAB96178,Q9BV68,Q9NPN4 Hs.69554 FLJ20552|MGC1022|MGC14317 protein-coding 1347456 RNF126P1 ring finger protein 126 pseudogene 1 737633 12477932 737633 376412 NR_002818,AC007114,BC033555 Hs.132299 pseudo 1603197 RNF128 ring finger protein 128 The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 17475842,17259178,15772651,15489334,14702039,14661020,12705856,12477932 79589 NM_024539,NM_194463,AL391315,AL606833,CH471120,AF394689,AK027169,AK074264,AK126553,BC012931,BC030951,BC036901,BC056677,BC063404,BI600046 Q5JQS2,Q8TEB7,NP_078815,NP_919445,CAI39545,CAI39546,CAI39547,CAI41228,CAI41229,EAX02737,AAK77554,BAB15682,BAB85033,BAC86589,AAH30951,AAH56677,AAH63404 Hs.496542 FLJ23516|GRAIL protein-coding 1351392 RNF13 ring finger protein 13 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. 1580863 16344560,16166738,15489334,14702039,12477932,9110174,8619474,8610176 11342 NM_007282,NM_183381,NM_183383,NM_183384,AC069216,AC117395,CH471052,AF037204,AF070558,AK090638,AK090771,AK313304,BC009781,BC009803,BC017878,BG030058,BG546092,BG708380,BM556246,BQ424702,BU077446,CB109037,CR456804,CR622736,CR624337,DA031838 NP_009213,NP_899237,NP_899239,NP_899240,EAW78858,EAW78859,EAW78860,EAW78861,EAW78862,EAW78863,AAC03769,AAC28641,BAG36109,AAH09781,AAH09803,AAH17878,CAG33085,O43567,Q05D66,Q6IBJ9,ABZ92304 Hs.12333 GDB:9958020 FLJ93817|MGC13689|RZF protein-coding 1343865 RNF130 ring finger protein 130 The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. 16549277,15761153,15489334,13679316,12477932,10806348 55819 NM_018434,AC010285,AC026413,AC122713,CH471165,AB209800,AF155650,AL515761,AY083998,BC017100,BC065244,BC082267,BC108306,BC113864,BC114472,BQ447530,BX404014,CR595365,CR609277,CR616243,CR624003 NP_060904,EAW53772,EAW53773,EAW53774,EAW53775,BAD93037,AAF67007,AAM08686,AAH17100,AAH65244,AAH82267,AAI08307,AAI13865,AAI14473,Q1WWL6,Q2HIY3,Q59EL1,Q86XS8 Hs.484363 G1RZFP|GOLIATH|GP|MGC117241|MGC138647|MGC99542 protein-coding 1350521 RNF133 ring finger protein 133 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene has no intron. 15489334,14702039,12853948,12690205,12477932,9847074,8744354 168433 NM_139175,AC006463,CH236947,CH471070,AF447589,AK098524,BC022038 NP_631914,AAQ96858,EAL24341,EAW83577,AAM22872,BAC05321,AAH22038,Q8WVZ7 Hs.126730 MGC27072 protein-coding 1313173 RNF135 ring finger protein 135 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 17632510,15489334,15334068,14702039,12696059,12477932,11468690,9373149,8125298 84282 NM_197939,AC138207,CH471147,AI634044,AJ496729,AK122646,AK122709,AK226030,AY598332,BC005084,BC082262,BC126420,BC126422,NM_032322 Q8IUD6,NP_115698,NP_922921,EAW80286,CAD43140,AAT06743,AAH05084,AAI26421,AAI26423 Hs.29874 L13|MGC13061 protein-coding 1605080 RNF138 ring finger protein 138 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 16714285,16713569,16189514,15489334,14702039,12477932,8744354 51444 NM_016271,NM_198128,AC011825,CH471088,CR457150,CR594800,CR614694,AF162680,AK023579,AL133557,BC018107,BI461242,BI463820,BM564125,BT006878,BU662580 NP_057355,NP_937761,EAX01280,CAG33431,Q8WVD3,ABM81670,ABM84840,EAX01281,EAX01282,EAX01283,AAD46623,BAB14614,CAB63712,AAH18107,AAP35524 Hs.302408 HSD-4|MGC8758|NARF|STRIN protein-coding 1347730 RNF138P1 ring finger protein 138 pseudogene 1 737633 12477932 737633 379013 NR_001575,AC025777,BC040295 Hs.661501 pseudo 1315417 RNF139 ring finger protein 139 The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. 1599629,2289870 10500182,12032852,9689122,17539022,17081983,17016439,15489334,14702039,12477932,8889548 1599629,2289870 11236 NM_007218,AC090198,AF064800,CH471060,CQ871298,AA455970,AF064801,AK001602,AK025043,AK098519,BC021571,BC064636,BI562637,BM677460,BM804626,CD171728,CR614013,CR622053 NP_009149,AAC39931,EAW92064,CAH56830,AAC39930,AAH21571,AAH64636,Q8WU17 Hs.632057 HRCA1|MGC31961|RCA1|TRC8 protein-coding 1605715 RNF14 ring finger protein 14 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Five alternatively spliced transcript variants encoding two distinct isoforms have been reported. 15572661,10085091,11322894,17510080,17110431,17082327,15489334,15231748,14702039,12772188,12477932,12163482,11673464,10320776,9853615,14966297,12612084 9604 AC005740,CH471062,AA418072,AB015333,AB022663,AF060544,AK023698,AK023884,AK057868,AK129515,AW162926,BC126185,BX647955,CB997918,CD106708,CR456702,CR595278,CR605413,CR616865,NM_183399,NM_004290,NM_183398,NM_183400,NM_183401 EAW61894,EAW61895,EAW61896,EAW61897,BAA34792,BAA78677,AAD21842,NP_899648,AAI26186,CAG32983,Q9UBS8,NP_899646,NP_004281,NP_899645,NP_899647 Hs.483616 GDB:9957777 ARA54|FLJ26004|HFB30|HRIHFB2038|TRIAD2 protein-coding 1350770 RNF141 ring finger protein 141 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. 1580863 15761153,15489334,12804569,12477932,11672448,8889548,50862 50862 NM_016422,AC021914,CH471064,AF214680,AI356880,AI912940,AK289764,AL598903,AL600289,BC018104,BC035089,BF970569,BG108453,BQ229248,BT006662,BU679024,BX647862,CB956484,CR599604 NP_057506,EAW68566,AAF30180,BAF82453,AAH18104,AAP35308,Q8WVD5 Hs.44685,Hs.693963 MGC8715|ZFP26|ZNF230 protein-coding 1343789 RNF144A ring finger protein 144A The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The mouse counterpart of this protein has been shown to interact with Ube2l3/UbcM4, which is an ubiquitin-conjugating enzyme involved in embryonic development. 1580863 10942595,16344560,15489334,12477932,10431818,8889548,8724849 9781 NM_014746,AC017076,AC068481,CH471053,BC035051,BC050373,BM550396,BM931543,BQ219370,BQ423668,BQ427820,BQ574061,CD101678,CR590080,CR591595,D79983,DA234807 NP_055561,AAX82010,EAX01029,EAX01030,EAX01031,EAX01032,AAH50373,BAA11478,P50876,ABZ92280 Hs.699230 KIAA0161|RNF144|UBCE7IP4 protein-coding 1318869 RNF144B ring finger 144B 12853982,16427630,15489334,14702039,14574404,12477932 255488 CH471087,AB076367,AJ420555,AK096832,AL832329,BC063311,CR593698,NM_182757,AL138725 EAW55406,EAW55407,EAW55408,EAW55409,EAW55410,BAC02434,CAD38622,AAH63311,Q5TB87,Q7Z419,NP_877434,CAI15148 Hs.148741 IBRDC2|KIAA0161|MGC71786|bA528A10.3|p53RFP protein-coding 1602832 RNF145 ring finger protein 145 16303743,14702039,12477932 153830 NM_144726,AC134043,CH471062,AK056513,AK075101,AK098802,AK292854,AL831829,BC042684,BC044767,BX537635,BX640806,CR616646 NP_653327,EAW61579,BAB71200,BAC11401,BAC05416,BAF85543,CAD38542,AAH42684,CAD97802,CAE45888,Q6MZY8,Q7Z3N5,Q8N783,Q8NC08,Q8NDT8,Q96MT1 Hs.349306 DKFZp686M11215|FLJ31951 protein-coding 1352347 RNF145 ring finger protein 145 353159 1315124 RNF146 ring finger protein 146 1580863 18326623,16381901,15813938,15489336,15489334,14702039,14574404,12477932,11230166,11076863 81847 NM_030963,AL109939,CH471051,AJ315122,AJ420549,AK027436,AK027558,AK027776,AL136829,BC008235,CR533514,CR605085,CR616084 NP_112225,CAB76254,CAB76255,EAW48109,EAW48110,EAW48111,EAW48112,EAW48113,CAC85986,BAB55108,BAB55196,BAB55359,CAB66763,AAH08235,CAG38545,Q0JS51,Q96T06,Q9NTX7,CAL37596,CAL38663 Hs.267120 DKFZP434O1427|RP3-351K20.1|dJ351K20.1 protein-coding 1348165 RNF148 ring finger protein 148 1580863 15489334,14702039,12690205,12477932,8744354 378925 NM_198085,AC006463,CH236947,CH471070,AK058116,AK098654,BC029264 NP_932351,EAL24340,EAW83578,EAW83579,BAC05367,AAH29264,Q8N7C7 Hs.675191 MGC35222 protein-coding 1318240 RNF149 ring finger protein 149 737633,1580863 14702039,12477932,11076863,16381901,15815621,15489336,15489334 737633 284996 CQ782963,AK074985,AK075141,AK129799,AY450390,BC019355,BC032328,BC045743,CR591001,CR621578,CR624747,NM_173647,AC013722,AC073643,CH471127 EAX01819,EAX01820,CAF86191,BAC11334,BAC11430,AAR21083,AAH19355,AAH32328,AAH45743,Q53SV6,Q8NC42,CAL37444,NP_775918,AAY15089,AAY14775,EAX01817,EAX01818 Hs.142074 DNAPTP2|FLJ90504 protein-coding 1322589 RNF150 ring finger protein 150 15815621,15489334,14702039,12477932,10574462 57484 NM_020724,AC093905,AC096733,AC097475,CH471056,AB033040,AK130520,BC101992 NP_065775,EAX05090,BAA86528,BAC85369,AAI01993,Q9ULK6 Hs.659104 MGC125502 protein-coding 1319576 RNF151 ring finger protein 151 737633 15489334,12477932 737633 146310 NM_174903,AC005363,BC029501,BC113014 NP_777563,AAH29501,AAI13015,Q2KHN1 Hs.99354 MGC129921 protein-coding 1313171 RNF152 ring finger protein 152 1580863 15489334,14702039,12477932 220441 NM_173557,AC105094,AC105183,CH471096,AK096495,AK122758,BC094004,BC111956 NP_775828,EAW63114,EAW63115,BAC04805,AAH94004,AAI11957,Q8N8N0 Hs.667457 FLJ39176|MGC138161 protein-coding 1348356 RNF157 ring finger protein 157 1580863 14702039,12477932,11572484 114804 NM_052916,AC015801,AC018665,CH471099,AB067504,AK055949,AK091467,BC004231,BC042501 NP_443148,EAW89378,EAW89379,EAW89380,EAW89381,EAW89382,BAB67810,BAB71053,BAC03669,AAH04231,Q96PX1,Q9BTC5,AAI66675 Hs.500643 protein-coding 1343595 RNF165 ring finger protein 165 Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. 15722956,14702039,12477932,8889548 494470 NM_152470,AC015959,AC018931,CH471088,AK055997,AK074561,AK096648,AK122819,AK123883,AK127467,AW160725,BC012190,BK005135,BM680948 NP_689683,EAX01474,EAX01475,BAC86992,DAA05330,Q6ZSG1 Hs.501114 protein-coding 1351592 RNF166 ring finger protein 166 737633,1580863 15489334,14702039,12477932 737633 115992 NM_178841,AC138028,CH471184,AK057106,AK057201,AK290920,BC013948,BC017226,CR596749,CR598819,CR612154,CR620092 NP_849163,EAW66781,EAW66782,EAW66783,EAW66784,EAW66785,EAW66786,BAB71380,BAF83609,AAH13948,AAH17226,Q96A37 Hs.513804 MGC14381|MGC2647 protein-coding 1348849 RNF167 ring finger protein 167 RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM] 737633,1580863 17353931,16314844,15498874,15489334,14702039,12477932 737633 26001 AL079315,AL834284,AY203930,AY960626,BC010139,BC013222,CR457340,CR590839,CR592240,CR593443,CR593641,CR595664,CR596879,CR601513,CR604393,CR604711,CR606683,CR607187,NM_015528,AC109333,CH471108,AK025329,AL050060,CR611228,CR611752,CR613473,CR616232,CR617000,CR617213 CAB45281,CAD38958,AAP34453,AAH10139,CAG33621,NP_056343,EAW90385,EAW90386,EAW90387,EAW90388,BAB15113,CAB43253,Q9H6Y7,Q9Y4L6 Hs.7158 5730408C10Rik|DKFZP566H073|LP2254|RING105 protein-coding 1347950 RNF168 ring finger protein 168 737633 16499958,15489334,15231748,14702039,12477932 737633 165918 AC092933,AC117490,CH471191,AK054732,AK093113,BC017442,BC033791,NM_152617 EAW53649,EAW53650,EAW53651,BAB70801,BAC04060,AAH33791,Q8IYW5,NP_689830 Hs.660132 FLJ35794 protein-coding 1602283 RNF169 ring finger protein 169 12056414,8889548,17081983,16964243,15302935 254225 NM_001098638,AP000560,AP001324,AB082522,BU735906,BX640750 NP_001092108,BAC02700,CAE45858,Q8NCN4 Hs.370145,Hs.556037 KIAA1991 protein-coding 1321415 RNF17 ring finger protein 17 This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. 1580863 14702039,12477932,11279525,10961928 56163 NM_031277,AL354798,AL391560,CH471075,AF285602,AF285603,AK001907,BC064847,BC146822,CD358307,CR618892,DB517763 NP_112567,CAI16633,CAI16636,CAM23326,CAI15247,CAI15248,CAI15249,EAX08347,EAX08348,AAK31981,AAK31982,BAA91972,AAH64847,Q5T2J8,Q5T2K0,Q5T2K1,Q5T6R1,Q9BXT8,AAI66669 Hs.97464 GDB:10796621 FLJ11045|Mmip-2|SPATA23|TDRD4 protein-coding 1352237 RNF170 ring finger protein 170 737633,1580863 15489334,14702039,12477932,11230166,9373149 737633 81790 BC032393,BC039461,BC044566,BC058289,CR608052,NM_030954,AC009634,AC087533,CH471080,AF209504,AK027748,AK090864,AK095625,AK225086,AK225568,AL136620,BC013422 AAH32393,AAH39461,AAH44566,Q96K19,NP_112216,EAW63201,EAW63202,EAW63203,EAW63204,AAM92891,BAB55340,BAC03534,CAB66555,AAH13422 Hs.696153 DKFZP564A022|FLJ38306 protein-coding 1348737 RNF175 ring finger protein 175 737633,1580863 15489334,14702039,12477932 737633 285533 NM_173662,AC020703,AC106865,CH471056,AK091509,BC034385 NP_775933,EAX04950,EAX04951,BAC03680,AAH34385,Q8N4F7,Q8NB61 Hs.388364 FLJ34190 protein-coding 1347772 RNF180 ring finger protein 180 16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863 285671 NM_178532,NM_001113561,AC092360,CH471137,AK090756,AL832580,BC101277,BC101278,BC101279,BC101397,DA183707,DA809479 NP_848627,NP_001107033,EAW51373,EAW51374,EAW51375,BAC03514,CAD89939,AAI01278,AAI01279,AAI01280,AAI01398,Q86T96,CAL38421 Hs.657843 MGC120326|MGC120328 protein-coding 1602715 RNF181 ring finger protein 181 18331836,12477932,11042152,9373149,8125298 51255 NM_016494,AC016753,CH471053,AF151072,AK222700,BC002803,CB131242,CR457165 NP_057578,AAY24343,EAW99504,EAW99505,AAF36158,BAD96420,AAH02803,CAG33446,Q9P0P0 Hs.356187 HSPC238 hypothetical protein loc51255 protein-coding 1351673 RNF182 ring finger protein 182 737633,1580863 15489334,14702039,12477932 737633 221687 BC030666,BC050030,NM_152737,AL138718,CH471087,AK090576,AK098091 AAH30666,AAH50030,Q8N6D2,ABM83364,ABM83370,ABM86574,ABM86575,NP_689950,EAW55349,EAW55350,BAC03481 Hs.111164 FLJ40772|MGC33993 protein-coding 1603182 RNF183 ring finger protein 183 16189514,15489334,14702039,12477932 138065 NM_145051,AL449305,CH471090,AK055759,AK091940,BC013036,BE463594 NP_659488,EAW87364,EAW87365,EAW87366,BAB71005,AAH13036,Q96D59,Q96NA0,ABM83500,ABM86716 Hs.211374 FLJ31197|MGC4734 protein-coding 1602840 RNF185 ring finger protein 185 15489334,15461802,14702039,12477932 91445 NM_152267,AC002073,AC005005,CH471095,CQ834442,AK027035,AK075154,AK095947,AK291236,BC009504,BC012817,BC017302,BC026040,BC033166,BC035684,BX648019,CR456349,DQ296559,DQ296561,DQ296562,DQ296564,DQ296565 NP_689480,EAW59943,EAW59944,EAW59945,EAW59946,EAW59947,EAW59948,EAW59949,EAW59950,EAW59951,EAW59952,EAW59953,CAH05436,BAC04659,BAF83925,AAH09504,AAH12817,AAH26040,AAH33166,AAH35684,CAG30235,ABB97506,ABB97508,ABB97509,ABB97511,ABB97512,Q96GF1,CAK54490,CAK54789 Hs.517553 FLJ38628 protein-coding 1601756 RNF186 ring finger protein 186 16710414,15489334,14702039,12477932,9373149,8125298 54546 NM_019062,AL391883,CH471134,AK000232,AK222991,BC030960,BC051880,CR457228 NP_061935,CAI17040,EAW94904,BAA91024,BAD96711,AAH30960,AAH51880,CAG33509,Q9NXI6 Hs.124835 FLJ20225|RP11-91K11.1 protein-coding 1606704 RNF187 ring finger protein 187 16710414,15489334,12477932 149603 XM_928029,XM_001129309,XM_001715919,AL139288,BC000821,BC008022,BC012758,BC015435,BC039872,BC053571,BC064481,BC080645,CR599642,CR616289 XP_933122,XP_001129309,XP_001715971,CAI23328,AAH00821,AAH12758,AAH64481,Q5TA31,Q9BVY4 Hs.356377,Hs.679030 protein-coding 1317214 RNF19A ring finger protein 19A The protein encoded this gene contains two RING-finger motifs and an IBR (in between RING fingers) motif. This protein is an E3 ubiquintin ligase that is localized in Lewy bodies (LBs), a characteristic neuronal inclusion in Parkinson's disease (PD) brains. This protein interacts with UBE2L3/UBCH7 and UBE2E2/UBCH8, but not other ubiquitin-conjugating enzymes. This protein is found to bind and ubiquitylate synphilin 1 (SNCAIP), which is a interacting protein of alpha synuclein in neurons, and a major component of LB. Alternatively spliced transcript variants encoding the same protein have been reported. 10976766,11237715,17157513,16513638,15489334,15456787,15030390,14702039,14611647,12875980,12750386,12477932,12145308 25897 NM_183419,NM_015435,AC025647,AP001574,CH471060,AB029316,AB271913,AJ242975,AK023455,AK027070,AK057699,AL110253,AL122096,AL708565,BC043648,BC062676,BC093938,BC093940,BC105300 NP_904355,NP_056250,EAW91807,BAB39353,BAF48116,CAB45132,BAB14581,BAB15647,CAB53700,CAB59264,AAH43648,AAH93938,AAH93940,AAI05301,Q3MHC3,Q3ZCS9,Q9NV58 Hs.292882 GDB:11510871 DKFZp566B1346|DORFIN|RNF19 protein-coding 1313515 RNF19B ring finger protein 19B IBRDC3 is a cytolysis-associated transmembrane protein expressed in natural killer (NK) cells and T lymphocytes following cytokine stimulation (Kozlowski et al., 1999 [PubMed 10438909]).[supplied by OMIM] 737633 15489334,14702039,12477932,10438909 737633 127544 AK131439,BC020595,BC062374,BC113560,NM_153341,AL031602,CH471059,CQ782409,AK074486 BAC11017,BAD18585,AAH20595,AAH62374,AAI13561,Q6ZMZ0,NP_699172,CAI19336,CAI19337,EAX07489,EAX07490,EAX07491,CAF85699 Hs.591504 FLJ90005|IBRDC3|NKLAM protein-coding 1313548 RNF2 ring finger protein 2 Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. 737633,1580863 17088979,17936708,17873902,17379327,17157253,17081983,16714294,16710414,16359901,15960975,15931389,15773819,15761153,15489334,15386022,15009096,14702039,12589020,12477932,12183370,12167701,11865070,11513855,10369680,16189514,15563468 737633 6045 NM_007212,AL109865,CH471067,AF075026,AF141327,AI242656,AK091574,BC012583,BF183837,BX338357,CR597914,CR619047,Y10571 NP_009143,CAC00611,CAI17849,CAI17850,EAW91187,EAW91188,AAD29717,AAH12583,CAA71596,Q99496,ABM83858,ABM87180 Hs.591490 GDB:6240419 BAP-1|BAP1|DING|HIPI3|RING1B|RING2 protein-coding 1323649 RNF20 ring finger protein 20 The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. Yeast BRE1 is a ubiquitin ligase required for the ubiquitination of histone H2B and the methylation of histone H3. 16337599,16307923,15635413,15489334,15302935,15164053,14702039,12876294,12535539,12535538,12477932,11145718,11086069,10975868,10954754 56254 NM_019592,AF247268,AL353621,AL591377,CH471105,AF265230,AF283791,AF305515,AK000389,AK000697,AK002051,AK022300,AK022532,AL832910,AL834272,AY006321,BC016691,BC032618,BC063115,BC110584,BC110585,BC152309 NP_062538,AAG24713,CAI14618,CAH69963,EAW58955,EAW58956,EAW58957,AAK58539,AAG44865,AAG21410,BAA91134,BAA91326,BAA92057,BAB14005,BAB14081,CAH10630,CAD38947,AAG15824,AAH16691,AAH32618,AAH63115,AAI10585,AAI10586,AAI52310,Q05DC0,Q5VTR2 Hs.656088 GDB:10796420 BRE1A|FLJ11189|FLJ20382|KIAA2779|MGC129667|MGC129668 protein-coding 1603826 RNF207 ring finger protein 207 16344560,14702039,12477932,12107413,8889548 388591 NM_207396,AL031847,AK056658,AK127700,AK128246,BC034459,BC119780,BC128237,BQ045220,CD673733,DA190055,DB290694,DB636433 NP_997279,CAI19444,BAB71243,BAC87091,BAC87352,AAI19781,AAI28238,Q6ZRF8 Hs.515688 C1orf188|FLJ32096|FLJ46380 protein-coding 1603720 RNF208 ring finger protein 208 16189514,12477932,11256614,11230166 727800 NM_031297,BX255925,AF416715,AI880121,AL136540,BC016958,BX343138,DN995061 NP_112587,CAM24146,AAL16809,CAB66475,AAH16958,Q9H0X6 Hs.512767,Hs.648197 DKFZp761H1710|MGC88636 protein-coding 1604957 RNF212 ring finger protein 212 18239089,15489334,14702039,12477932 285498 NM_194439,AC019103,AC092535,CH471131,AK096160,BC036250,BC050356,BC101258,BC101259,BC101260,BC101261,CR620687 NP_919420,EAW82610,EAW82611,EAW82612,EAW82613,EAW82614,BAC04714,AAH36250,AAH50356,AAI01259,AAI01260,AAI01261,AAI01262,Q495C1 Hs.248290 FLJ38841|MGC120227|MGC120228|ZHP3 protein-coding 1351712 RNF213 ring finger protein 213 737633 16625196,15489334,14702039,12477932,10997877,10737800 737633 57674 NM_020914,AC124319,BX647506,CH471099,AB046774,AK127358,AK127914,AL161961,AF318359,AK023871,AK025676,AK025914,AK026038,AK074030,AL833201,BC032220,BC110403,BI008697,BX097483,BX640932,BX647946 NP_065965,EAW89595,EAW89596,EAW89597,EAW89598,EAW89599,EAW89600,BAB84856,BAC86942,BAC87188,BAB13380,AAL55866,BAB14708,BAB15212,BAB15280,BAB15330,CAH56308,AAH32220,CAE45967,CAH56189,Q63HN8,Q6ZRW9,Q6ZSK6,Q8WYU1 Hs.195642,Hs.657519 C17orf27|KIAA1554 chromosome 17 open reading frame 27 protein-coding 1604189 RNF214 ring finger protein 214 15489334,15146197,12477932 257160 NM_207343,NM_001077239,AP000892,CH471065,AL834448,BC031347,BC064581,BC146891,BC146901,CN395747,CR624116,DB457549 NP_997226,NP_001070707,EAW67306,EAW67307,CAD39108,AAI46892,AAI46902,Q6P2E0,Q8ND24 Hs.591934 DKFZp547C195 protein-coding 1606686 RNF215 ring finger protein 215 9847074 200312 NM_001017981,AC004997,CH471095,BM476400,BM806918,BX494669 NP_001017981,AAD43187,EAW59883,EAW59884,Q9Y6U7,AAI48384,AAI53029 Hs.592194 protein-coding 1604006 RNF216 ring finger protein 216 This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. 15367624,11256614,16968706,16381901,16341674,15489336,15489334,15107846,14702039,12853948,12600646,12477932,11854271,11230166,11076863,10527689,10422847,8076819 54476 NM_207111,NM_207116,AC006483,AC008167,CH471144,AF228527,AF513717,AF513718,AK000916,AK024787,AK092767,AK123635,AK128551,AK292396,AY062174,AY177396,AY177397,AY177398,BC000787,BC004947,BC063825,BM793093,BM997118,BQ018569,BX537406,CR615220 NP_996994,NP_996999,AAS07532,EAW87347,EAW87348,EAW87349,AAF36723,AAP47174,AAP47175,BAA91422,BAC87497,BAF85085,AAL38043,AAO60361,AAO60362,AAO60363,AAH00787,AAH63825,CAD97648,Q0JSF0,Q0JVF2,Q6ZR24,Q9NWF9,CAL37508,CAL38564 Hs.487458,Hs.689456 TRIAD3|U7I1|UBCE7IP1|ZIN protein-coding 2291759 RNF216L ring finger protein 216-like 12477932,11854271,11181995 441191 XR_040773,XR_040774,XR_040776,XR_040775,AC092032,CH471144,AK124529,BC026736,BC068459,BX538059 EAW87309,EAW87310,EAW87311,EAW87312,EAW87313,EAW87314,EAW87315,EAW87316,AAH68459,Q6NUR6 Hs.520636,Hs.709617 miscrna 1315678 RNF217 ring finger protein 217 1580863 15489334,14702039,14574404,12477932 154214 NM_152553,AL136128,AL355296,CH471051,AK057943,AK093417,AK122811,BC026087 NP_689766,CAC36346,CAI22999,CAI23000,EAW48149,EAW48150,EAW48151,EAW48152,EAW48153,EAW48154,AAH26087,Q5TCA3,Q8TC41 Hs.368639 C6orf172|IBRDC1|MGC26996|dJ84N20.1 protein-coding 1354147 RNF219 ring finger protein 219 16964243,15489334,15057823,14702039,12477932,11230166,8889548,17353931 79596 NM_024546,AL139319,AL445209,CH471093,AK023511,AK098640,AL136651,BC028586,BC136764,BC136765,BI550796,BM674566,CR591202,CR936752,CR936754,CR936764 NP_078822,CAI15183,EAW80586,EAW80587,EAW80588,BAB14594,CAB66586,AAI36765,AAI36766,Q5W0B1 Hs.567576 C13orf7|DKFZp686A01276|DKFZp686N15250|DKFZp686O03173|FLJ13449|FLJ25774 chromosome 13 open reading frame 7 protein-coding 1319703 RNF24 ring finger protein 24 The protein encoded by this gene contains similarity to the Drosophila goliath protein and thus may function as a transcription factor. 1580863 15489334,12477932,11780052,11042152 11237 BT007406,CR599255,CR605832,CR616881,CR617392,NM_007219,AL031670,CH471133,AF151081,AL079313,AL096778,BC000213,BC039584 AAH39584,AAP36074,Q9P0N2,Q9Y225,NP_009150,CAB43182,EAX10467,EAX10468,EAX10469,EAX10470,EAX10471,AAF36167,CAB45279,CAB46627,AAH00213 Hs.589884 GDB:9957504 G1L protein-coding 1323079 RNF25 ring finger protein 25 The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. 1580863 15489334,14702039,12748188,12477932,10500182,9373149,8125298,16189514 64320 NM_022453,AC009974,CH471063,AK023968,AK222525,AK289501,AW613024,BC015612,BC028167,BI831198,CR603654,CR604874,CR617443,CR624539 NP_071898,EAW70641,EAW70642,EAW70643,EAW70644,EAW70645,EAW70646,BAB14743,BAD96245,BAF82190,AAH15612,Q53HQ5,Q96BH1 Hs.471403 GDB:11508685 AO7|FLJ13906 protein-coding 1314288 RNF26 ring finger protein 26 The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. 1580863 11352657,16303743,15489334,14702039,12477932 79102 NM_032015,AP003396,CH471065,CS051427,AB055622,AK075379,AK122642,AL702838,BC000058,BC007534,BQ953192,BX647424,BX648447,CR590450,CR610988,CR624837 NP_114404,EAW67479,CAI72207,BAB40955,BAC11580,AAH00058,AAH07534,Q542Y8,Q9BY78,ABM84427,ABM87453 Hs.524084,Hs.706395 GDB:11502515 MGC2642 protein-coding 1348836 RNF31 ring finger protein 31 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. 17006537,16713569,15489334,15146197,15093743,14702039,12693554,12477932,10422847,9373149,8744354,8125298 55072 AL136295,CH471078,AB265810,AK000973,AK027154,AK055542,AK122711,AK225832,AK291247,AY256461,BC009821,NM_017999,BC012077,BC017376,BI459554,BI544688,CD742923,CN287790 NP_060469,EAW66095,EAW66096,EAW66097,EAW66098,EAW66099,BAF35583,BAA91450,BAB15675,BAB70948,BAF83936,AAP12522,AAH09821,AAH12077,AAH17376,Q96EP0 Hs.375217,Hs.434081 FLJ10111|FLJ23501|MGC19975|ZIBRA protein-coding 1317975 RNF32 ring finger protein 32 The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Several alternatively spliced transcript variants exist, but their full length natures are not clear. 1580863 11890671,11256614,16381901,15489336,15489334,12853948,12477932,11230166,11076863,9847074 140545 AC005534,AF441223,AF441225,CH236954,CH471149,AF325690,AF441222,AF441224,AL136874,BC015416,BC028120,NM_030936,BI460257,BI465216,BT007037,CR533513,CR599570 CAL38072,NP_112198,AAD43189,AAM18665,AAM18667,AAM18668,AAM18669,EAX04551,EAX04552,EAX04553,EAX04554,EAX04555,EAX04556,EAX04557,EAX04558,AAG50281,AAM18664,AAM18666,CAB66808,AAH15416,AAH28120,AAP35686,CAG38544,Q0JTU0,Q8TAF1,Q8TDF9,Q9H0A6,CAL37640 Hs.490715 GDB:11508465 FKSG33|HSD15 protein-coding 1352323 RNF34 ring finger protein 34 The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 15897238,15595643,15489334,15069192,14702039,12477932,12118383,9373149,8125298,16189514 80196 NM_194271,NM_025126,AC048337,CH471054,AB084914,AF306709,AK024957,AK025439,AK096994,AK130355,AK225285,AL557811,AY098934,BC007826,BC039029,BC046174,BT007283,CR457342,CR592405,CR601814,CR616780 NP_919247,NP_079402,EAW98262,EAW98263,EAW98264,BAC11802,AAK51328,BAB15132,AAM29180,AAH07826,AAP35947,CAG33623,Q969K3 Hs.292804 GDB:11508467 FLJ21786|RFI|RIF|RIFF protein-coding 1349960 RNF35 ring finger protein 35 337951 AY063495 737292 RNF38 ring finger protein 38 This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 16381901,16344560,15489336,15489334,15164053,14702039,12477932,12074600,11752456,11230166,11076863,8889548 152006 CR591485,CR619262,DA189510,DA483270,NM_194330,NM_194332,NM_194328,NM_194329,NM_022781,AL161792,AL354935,CH471071,AF394047,AK024996,AK025466,AK093480,AK097653,AL120640,AL136817,AV690059,AX748155,BC033786,BG722531,BI459742,BI520161,BU731024 Q0JVA0,Q5VYF3,Q5VYF4,Q7LB33,Q9H0F5,Q9H748,CAL37560,ABM86161,ABW03690,NP_919311,NP_919313,NP_919309,NP_919310,NP_073618,CAI16895,CAO03553,CAO03554,CAH70194,CAO03540,CAO03541,EAW58305,AAM73697,BAB15050,CAB66751,AAH33786 Hs.333503 GDB:11508935 FLJ21343 protein-coding 1604283 RNF39 ring finger protein 39 This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. 14574404,12477932,11716498,11130983,11076863,11006080,10585558,8889548 80352 NM_025236,NM_170769,AB088087,AB202082,AL669914,AL671859,AL845439,AP000518,BX927229,CH471081,AF238315,AF238316,AF238317,CA311242 NP_079512,NP_739575,BAC54920,BAE78602,CAI18179,CAI18180,CAI17580,CAI17581,CAI18543,CAI18544,BAB63333,CAQ10495,CAQ10496,EAX03255,EAX03256,AAG40628,AAG40629,AAG40630,Q2L6J4,Q96QB5,Q9H2S5,AAI11602 Hs.121178 HZF|HZFW|LIRF protein-coding 737478 RNF4 ring finger protein 4 The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. 1580863 15572661,9710597,15489334,12885770,12874792,12477932,12351196,11719514,11696545,11319220,10849425,10822263,10713105,10617653,9734812,9479498 6047 NM_002938,AL645924,BX322586,CH471131,AB000468,AK128038,BC031935,CB993989,CR600335,U95140 NP_002929,EAW82522,EAW82523,EAW82524,EAW82525,EAW82526,BAA19122,AAH31935,AAC52022,P78317,ABZ92180 Hs.66394 GDB:6278920 RES4-26|SNURF protein-coding 732458 RNF40 ring finger protein 40 The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. 1580863 17081983,16307923,16303743,16189514,15489334,14702039,12477932,12121982,10944455,9734811 9810 NM_014771,AC106886,CH471192,AF122819,AK027406,AK054773,AK075526,AK131310,AK291666,AL708520,AL712808,BC004527,BC006133,BC011769,BC018647,BC030802,BC113827,BX640763,CR627431,AB014561 NP_055586,EAW52197,EAW52198,EAW52199,EAW52200,AAG13723,BAB55092,BAD18476,BAF84355,AAH04527,AAH06133,AAH11769,AAH18647,AAH30802,CAE45869,CAH10518,O75150,Q6ZN99,ABM84369,ABM87793,BAA31636 Hs.65238 GDB:9958297 BRE1B|DKFZp686K191|KIAA0661|MGC13051|RBP95|STARING protein-coding 1319962 RNF41 ring finger protein 41 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. The specific function of this protein has not yet been determined. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. 11867753,17210635,17035239,15489334,15314180,14765125,14676191,12477932,12411582,11358394,9110174,8619474 10193 NM_005785,NM_194358,AC073896,CH471054,AF077599,AL080105,AY007109,BC011626,BC024284,NM_194359,BC032637,BC036267,BC095418,BI562407,CB989647,CR602750,CR623486 NP_919340,NP_005776,NP_919339,EAW96909,EAW96910,EAW96911,AAC27647,AAG01988,AAH32637,Q9H4P4,ABZ92287 Hs.591031 MGC45228|NRDP1|SBBI03 protein-coding 1342772 RNF43 ring finger protein 43 18313049,16344560,15623641,15492824,15489334,14702039,12477932 54894 NM_017763,AC004687,AC023992,CH471109,AB081837,AK000322,AK291027,AK309297,BC109028,CR627423,CR749257,DA457410,DA723235 NP_060233,EAW94458,EAW94459,BAD51435,BAA91085,BAF83716,AAI09029,CAH10510,CAH18113,Q68DV7 Hs.656319 GDB:11507608 DKFZp781H02126|DKFZp781H0392|FLJ20315|FLJ77466|FLJ99338|MGC125630|RNF124|URCC protein-coding 1316271 RNF44 ring finger protein 44 The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. 15489334,12477932,10470851,8889548,7757816 22838 NM_014901,AC010316,AC091934,CH471195,AB029023,AK127673,AL547765,AL834489,BC039833,BC063297,BM672494,Z39041 NP_055716,EAW85070,EAW85071,EAW85072,BAA83052,BAC87078,CAD39147,AAH39833,AAH63297,Q6ZS76,Q7L0R7 Hs.650059 GDB:11510206 KIAA1100 protein-coding 1352556 RNF5 ring finger protein 5 The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. 1580863 12861019,14667819,16901789,9533025,17804730,16176924,15761153,15489334,15485865,14656967,14574404,12477932,11329381,10967549,8889548,2259622,11603805,16189514 6048 NM_006913,AL662830,CQ834264,CR812478,CR933878,U89336,AB056869,AJ243936,AL555609,BC004155,BC020290,BC111392,BC119741,BC119742,BC127651,BC127652,BC148255,BM712189,BT007105,BU599297,CR593664,CR609098,CR616890,CR617903,AL662884,AL845464,BX284686,BX927239,CH471081 NP_008844,CAI17532,CAH05347,CAQ10698,CAQ09623,AAB47492,BAB39359,CAB51286,AAH04155,AAI11393,AAI19742,AAI19743,AAI27652,AAI27653,AAI48256,AAP35769,CAI18351,CAI41808,CAM26222,CAQ06594,EAX03607,EAX03608,EAX03609,Q99942 Hs.534342 GDB:9120483 RING5|RMA1 protein-coding 1603249 RNF5P1 ring finger protein 5 pseudogene 1 16176924,15489334,14656967,14574404,12861019,12477932,11329381,9533025 286140 NR_003129,AC069120,CR610330 Hs.512071 pseudo 1314509 RNF6 ring finger protein (C3H2C3 type) 6 The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. 1599613,1580863 10331950,16204183,15489334,12477932,12154016,11971979 1599613 6049 AF293342,AJ010346,AJ010347,AL133621,AY009109,BC034688,BI461269,CR604595,CR749238,NM_005977,NM_183043,NM_183044,AL138966,CH471075 EAX08381,EAX08382,EAX08383,AAK00848,CAB40413,CAB40414,CAB63747,AAG49400,AAH34688,CAH18094,NP_005968,NP_898864,NP_898865,CAH73183,EAX08380,Q5W0H0,Q68DX6,Q9BZP5,Q9Y252,ABM82407,ABM87824 Hs.136885 GDB:9864402 DKFZp686P0776 protein-coding 1322298 RNF7 ring finger protein 7 The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 10082581,17828303,17217622,16874460,16189514,15489334,12748192,12565832,12477932,12470599,11999705,11861641,11710515,11506706,11255262,11027288,10851089,10748083,10512750,10506102,10443936,10230407,10230406 9616 NM_014245,NM_183237,AC112771,CH471052,AF092878,AF142060,AF164679,AF312226,BC005966,BC008627,BF439211,BG715867,BG742338,BT007348,BU959624,CA415974,CR590381 NP_055060,NP_899060,EAW78991,EAW78992,EAW78993,EAW78994,EAW78995,EAW78996,AAD25962,AAD30147,AAD55984,AAK37450,AAH05966,AAH08627,AAP36012,Q9UBF6,ABM82685,ABM85869 Hs.134623 GDB:9958873 CKBBP1|ROC2|SAG protein-coding 1317571 RNF8 ring finger protein 8 The protein encoded by this gene contains a RING finger motif and a FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 15231747,18001824,18001825,18171988,18077395,18006705,17724460,16344560,16189514,15489334,14981089,14702039,14574404,12477932,11322894,9852682,9734811,9373149,8889548,8125298 9025 BE327572,BF110581,BG029939,BM979512,BT007446,CA418096,CR617567,CR624127,DA064222,NM_003958,NM_183078,AB012770,AL096712,CH471081,AB014546,AF334675,AK022075,AK222765,AL711279,BC007517 AAP36114,O76064,ABM81663,ABM84835,NP_003949,NP_898901,BAA33557,CAB75689,EAX03943,EAX03944,EAX03945,BAA31621,AAQ14887,BAD96485,AAH07517 Hs.485278 GDB:9954780 FLJ12013|KIAA0646 protein-coding 1606007 RNFT1 ring finger protein, transmembrane 1 12477932 51136 NM_016125,AC004686,AC005702,CH471109,AF100745,AK098649,BC006971,BC088365,CR594569,DB456985 NP_057209,EAW94378,EAW94379,EAW94380,EAW94381,AAD43009,BAC05364,AAH06971,AAH88365,Q5M7Z0,Q8N7D0,Q96IZ9,Q9Y686 Hs.531701 MGC111090|PTD016 protein-coding 1605925 RNFT2 ring finger protein, transmembrane 2 16541075,15489334,14702039,12975309,12477932 84900 NM_001109903,NM_032814,AC083806,AC090013,CH471054,AK027533,AK093164,AY358585,BC011878,BG719293,BQ676121,CA432422,CR608078 NP_001103373,NP_116203,EAW98090,EAW98091,EAW98092,BAB55182,AAQ88948,AAH11878,Q6UWZ0,Q96EX2,Q96SU5 Hs.437195 FLJ14627|TMEM118 protein-coding 1322859 RNGTT RNA guanylyltransferase and 5'-phosphatase 1580863 9473487,9512541,9790902,17081983,15342556,14569024,12477932,12408826,11278368,10421630,9828141,9705270,9371772 8732 NM_003800,AB012142,AB012143,AF025654,BC019954,BP256840,BX537450,AL079342,AL096868,AL133408,AL160403,AL445530,CH471051,AB009022,AB009023,AB009024 BAA25896,BAA25198,BAA25199,AAB91559,AAH19954,CAD97693,O60942,Q5TCW7,Q5TCW8,Q7Z3R6,Q8WUM8,NP_003791,CAI22537,CAI22538,CAI21547,CAI21548,CAI21542,CAI21543,CAI22048,CAI22049,EAW48566,EAW48567,EAW48568,EAW48569,EAW48570,BAA25894,BAA25895 Hs.709712 GDB:9865048 CAP1A|DKFZp686J2031|HCE|HCE1|hCAP protein-coding 735371 RNH1 ribonuclease/angiogenin inhibitor 1 1580863 2742853,3064806,3470787,2081593,17956129,17350650,15936590,15755456,15592448,15489334,14702039,12477932,11342552,9311977,8264799,8037455,6653993,3243277,3219362,3219361,2276743,16189514 6050 NM_203389,NM_203388,NM_203387,NM_203386,NM_203385,NM_203384,NM_002939,NM_203383,AC137894,CH471158,AB209196,AK027172,AK057144,AL161967,CR620826,CR624221,CR624314,CR624317,CR625171,CR626140,M22414,M36717,X13973,AL534410,AL539148,AY071904,BC000677,BC003506,BC011186,BC011500,BC014629,BC024037,BC047730,BG716555,BG720935,BM019570,BM562998,BQ650217,BQ927358,CR590338,CR592118,CR592511,CR592774,CR592892,CR592988,CR593636,CR594328,CR595919,CR596248,CR597292,CR597816,CR598193,CR598663,CR598809,CR599057,CR600355,CR600356,CR600411,CR602999,CR604056,CR604193,CR604995,CR606240,CR608218,CR608690,CR611258,CR612687,CR613396,CR613915,CR614192,CR616098,CR619871 P13489,Q59GB3,Q8IZK8,Q96FD7,Q9BQ80,NP_976323,NP_976322,NP_976321,NP_976320,NP_976319,NP_976318,NP_002930,NP_976317,EAX02330,EAX02331,EAX02332,EAX02333,EAX02334,EAX02335,EAX02336,BAD92433,BAB15684,AAA59130,AAA60249,CAA32151,AAL60586,AAH00677,AAH03506,AAH11186,AAH11500,AAH14629,AAH24037,AAH47730,CAB82310 Hs.530687 GDB:125274 MGC18200|MGC4569|MGC54054|RAI|RNH protein-coding 1319473 RNMT RNA (guanine-7-) methyltransferase 1359071,1580863 9790902,9512541,15767670,15489334,12477932,11114884,10589710,10347220,9828141,9705270,9455477,7275966 1359071 8731 NM_003799,AP001525,CH471113,AB007858,AB020966,AB022604,AB022605,AB022606,AF067791,AK292561,BC005290,BC017816,BC036798,BX647977,CR602543 NP_003790,EAX01505,EAX01506,EAX01507,BAA23694,BAA82447,BAA74464,BAA74463,BAA74462,AAC63269,BAF85250,AAH05290,AAH17816,AAH36798,O43148,Q05D80,Q05DQ2,Q9UEB8 Hs.592347 GDB:9865050 DKFZp686H1252|KIAA0398|MET|RG7MT1|hCMT1c protein-coding 1351342 RNMTL1 RNA methyltransferase like 1 17353931,14702039,12477932,12296377,9373149,8125298 55178 NM_018146,AC087392,CH471108,AF177344,AK001443,AK222900,AK225128,BC011550,BC050614,CR590735,CR591937,CR592397,CR593905,CR598330,CR606252,CR606431,CR610396,CR610400,CR613251,CR620136,CR626293,CR626756 NP_060616,EAW90642,AAG17988,BAA91694,BAD96620,AAH11550,AAH50614,Q9HC36 Hs.182729 GDB:11508970 FLJ10581|HC90 protein-coding 1350307 RNPC3 RNA-binding region (RNP1, RRM) containing 3 Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. 16096647,15146197,15146077,14974681,12477932,11347906 55599 NM_017619,NG_004750,AC105272,BX322653,CH471097,AK000015,AK057799,AL137730,AY099329,BC010697,BK005195,CN386195 NP_060089,CAH72167,CAH72168,BAA90885,BAB71580,CAB70897,AAM45139,AAH10697,DAA05493,Q5TZ87,Q96JI8,Q96LT9,Q9NSU7,Q9NXX2,EAW72901,EAW72905,EAW72906 Hs.632423,Hs.632430 GDB:11510587 FLJ20008|FLJ25070|KIAA183|RBM40|RNP protein-coding 733030 RNPEP arginyl aminopeptidase (aminopeptidase B) 1581649,1580863 12119107,10467730,16981702,15489334,14702039,12477932,9533033,9405297,8895530,8344358 1581649 6051 NM_020216,AC099676,BN000001,CH471067,AJ242586,AJ296161,AK026644,AK097372,AK129946,AL390139,BC001064,BC012166,BQ898593,BX648806,CR600517,Z36876 NP_064601,CAD29858,EAW91386,EAW91387,CAC12957,CAC14047,CAB99087,AAH01064,AAH12166,Q7RU04,Q9H4A4,ABM87011,ABW03849 Hs.497391 GDB:138285 DKFZP547H084 aminopeptidase b protein-coding 1352195 RNPEPL1 arginyl aminopeptidase (aminopeptidase B)-like 1 1580863 15815621,15489334,14702039,12477932,11017071 57140 NM_018226,AC124862,CH471063,AF300795,AK001668,AK130185,AK130805,AL512754,BC017301,BC067258,BC082975,BC099906,CR602980 NP_060696,AAX88943,EAW71193,EAW71194,EAW71195,AAG22080,BAA91823,CAC21674,AAH17301,AAH67258,AAH82975,AAH99906,Q6NX56,Q9HAU8 Hs.5345 GDB:10796879 FLJ10806|FLJ26675|MGC99544 protein-coding 1316766 RNPS1 RNA binding protein S1, serine-rich domain This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Two splice variants have been found for this gene; both variants encode the same protein. 9580558,11477570,17353931,12226669,17959926,17081983,16713569,16209946,16189514,15684395,15592455,15489334,15324660,15302935,14752011,14729963,14702039,14625303,14517304,12944400,12477932,12093754,11546874,11546873,11118221,10449421,9933612,8828041,8543184 10921 BG716139,CR590882,CR591441,CR593506,CR593509,CR593829,CR594542,CR594976,CR596728,CR598454,CR599280,CR600795,CR602121,CR605668,CR607342,CR607876,CR607880,CR608607,CR610866,CR612691,CR613111,CR615513,CR617328,CR623779,CR626163,CR626285,L37368,NM_080594,NM_006711,AC009065,CH471112,L75926,L75927,AF015608,AF247662,AF274003,AK021799,AK289955,AL520572,BC001659,BC001838,BC108316 AAI08317,AAA92859,Q15287,ABM86440,NP_542161,NP_006702,EAW85516,EAW85517,EAW85518,EAW85519,EAW85520,EAW85521,EAW85522,AAC39791,AAF72519,AAL56665,BAF82644,AAH01659,AAH01838,ABW03795 Hs.355643 GDB:9958598 E5.1|MGC117332 protein-coding 1351869 RNR1 RNA, ribosomal 1 6052 GDB:119555 1350800 RNR2 RNA, ribosomal 2 11350117,7557999,6954460,4091818,3865188,3785147,3649563,2989541,2606358,2319598,2047879 6053 AF305858 GDB:119556 rrna 1347966 RNR3 RNA, ribosomal 3 11350117,6954460 6054 GDB:119557 1345442 RNR4 RNA, ribosomal 4 6055 GDB:119558 1344556 RNR5 RNA, ribosomal 5 6056 U13369 GDB:119559 1352403 RNRP1 RNA, ribosomal pseudogene 1 3557129 6057 GDB:203963 1342900 RNRP2 RNA, ribosomal pseudogene 2 6058 GDB:203961 1342826 RNU105A RNA, U105A small nucleolar 26768 U12211 GDB:10795838 105A|E1c snorna 1352899 RNU105B RNA, U105B small nucleolar 26767 U12207 GDB:10795839 105B|E1-2 snorna 1349469 RNU105C RNA, U105C small nucleolar 26766 U12208 GDB:10795840 E1-5|E1-6 snorna 1346363 RNU11 RNA, U11 small nuclear 2973606 26824 X58716 GDB:10795761 U11 snrna 1349922 RNU12 RNA, U12 small nuclear 7489523 26823 NR_000041,AL513366,L43845 Hs.511989 GDB:10795762 U12 snrna 1344410 RNU12P RNA, U12 small nuclear pseudogene 7489523,2973606 267010 NG_002405,L43846,J04119 Hs.574857 GDB:11510886 dJ222E13.7 pseudo 1346573 RNU13P1 RNA, U13 small nuclear pseudogene 1 1748306 6076 X58061 GDB:129072 U13|U13.32A pseudo 1344331 RNU13P2 RNA, U13 small nuclear pseudogene 2 1748306 6077 X58060 GDB:129073 U13|U13.12A pseudo 1353610 RNU13P3 RNA, U13 small nuclear pseudogene 3 1748306 6078 X58062 GDB:129074 U13|U13.4B pseudo 1347071 RNU17C RNA, U17C small nucleolar 26764 GDB:10795765 1349295 RNU1A RNA, U1A small nuclear 16373497,12837281,12697817,12082087,6198328,15456888 6060 NR_004421,J00318 GDB:119560 HU1-1|RNU1|RNU1G4|Rnu1a1|U1 snrna 1348485 RNU1A3 RNA, U1A3 small nuclear 6179629,3837185 26871 M14385 GDB:10795698 HSD1|U1A1 snrna 68982 RNU1B RNA, U1B small nuclear 6061 GDB:342115 1345778 RNU1C1 RNA, U1C1 small nuclear 3837185 26870 M28012 GDB:10795700 U1C1 snrna 1349662 RNU1C2 RNA, U1C2 small nuclear 3837185 26869 M28013 GDB:10795702 U1C21 snrna 1346912 RNU1D2 RNA, U1D2 small nuclear 6179629 26868 M14585 GDB:10795704 HSD5|U1B2|U1D2 snrna 1348919 RNU1E2 RNA, U1E2 small nuclear 6179629 26867 M14586 GDB:10795706 U1E2 snrna 1350496 RNU1F1 RNA, U1F1 small nuclear 6179629 26866 M14587 GDB:10795708 HSD7|U1F snrna 1353181 RNU1G1 RNA, U1G1 small nuclear 6179629 26865 M20034 GDB:10795710 HSD6 snrna 1350487 RNU1G2 RNA, U1G2 small nuclear 6179629 26864 M20033 GDB:10795712 HSD2 snrna 1347698 RNU1G3 RNA, U1G3 small nuclear 6179629,3837185 26863 M20032 GDB:10795714 HSD4 snrna 1345159 RNU1G4 RNA, U1G4 small nuclear 6180116 26862 J00318 GDB:10795716 1343691 RNU1P1 RNA, U1 small nuclear pseudogene 1 3837185 6062 NG_001183,M28011 GDB:119561 U1P101 pseudo 1344291 RNU1P10 RNA, U1 small nuclear pseudogene 10 6085956 26856 NG_001259,BX284650,M25188 GDB:10795722 U1.4|U1P14 pseudo 1345451 RNU1P2 RNA, U1 small nuclear pseudogene 2 3837185 6063 NG_001184,M28010 GDB:119562 U1P2A pseudo 1354050 RNU1P3 RNA, U1 small nuclear pseudogene 3 3837186 6064 GDB:119563 1350084 RNU1P4 RNA, U1 small nuclear pseudogene 4 3837186 6065 GDB:119564 1347098 RNU1P5 RNA, U1 small nuclear pseudogene 5 6180116,6173130 26861 NG_001264,J00319 GDB:11508469 RNU1P1|U1P1A pseudo 1349649 RNU1P6 RNA, U1 small nuclear pseudogene 6 6085956 26860 BX284650,M25189,NG_001263 GDB:10795718 U1.1|U1P1 pseudo 1346841 RNU1P7 RNA, U1 small nuclear pseudogene 7 6173130,6085956 26859 NG_001262,CH236957,M25192 GDB:10795719 U1P17 pseudo 1342987 RNU1P8 RNA, U1 small nuclear pseudogene 8 6085956 26858 NG_001261,AC005094,CH236948,M25191 GDB:10795720 U1P11 pseudo 1351596 RNU1P9 RNA, U1 small nuclear pseudogene 9 6085956 26857 NG_001260,AL356957,M25190 GDB:10795721 U1.15|U1P15 pseudo 1347643 RNU2-1 RNA, U2 small nuclear 1 14701755,12477932,9608047,9034341,7828589,6209403,6201719,6084596,2411549,2410771,2176635,15456888 6066 NR_002716,AC087365,K02227,K03022,K03023,L37793,U57614,X01408,X02665,X59360 GDB:120349 RNU2|U2 snrna 1350847 RNU2-2 RNA, U2 small nuclear 2 6238232 26855 NR_002761,AP001160,K02847 GDB:10795723 RNU2B|U2 snrna 1351079 RNU2P1 RNA, U2 small nuclear pseudogene 1 6209403,6172777 26854 NG_001258,K03024 GDB:10795724 U2 pseudo 1350456 RNU2P2 RNA, U2 small nuclear pseudogene 2 6201719 26853 NG_001257,AC087650,K02228 GDB:10795725 U2|U2/7 pseudo 1343360 RNU2P3 RNA, U2 small nuclear pseudogene 3 6165010 26852 NG_001256,AL392044,K00779 GDB:10795726 pseudo 1347729 RNU3A2 RNA, U3A2 small nucleolar 9365252 26850 AF020530 GDB:10795729 u3 snorna 1346913 RNU3A3 RNA, U3A3 small nucleolar 9365252 26849 AF020531 GDB:10795731 U3a snorna 1345715 RNU3B1 RNA, U3B1 small nucleolar 9365252 26848 AF020533 GDB:10795733 U3b1 snorna 1343109 RNU3B2 RNA, U3B2 small nucleolar 9365252 26847 AF020532 GDB:10795735 U3b1 snorna 1352521 RNU3B3 RNA, U3B3 small nucleolar 9365252 26846 AF020536 GDB:10795737 U3b2 snorna 1346919 RNU3B4 RNA, U3B4 small nucleolar 9365252 26845 AF020529 GDB:10795739 U3 snorna 1343238 RNU3P1 RNA, U3 small nucleolar pseudogene 1 2719960 6068 NG_001185,X14946 GDB:138357 U3 pseudo 1345745 RNU3P2 RNA, U3 small nucleolar pseudogene 2 6186397 26844 NG_001255,AC090805,K00773 GDB:10795741 U3|U3.2 pseudo 1349861 RNU3P3 RNA, U3 small nucleolar pseudogene 3 6186397,6173130 26843 AL157957,K00774,NG_001254 GDB:10795742 U3|U3.5|u3.7 pseudo 1352419 RNU3P4 RNA, U3 small nucleolar pseudogene 4 6186397 26842 NG_001253,AC104641,K00775 GDB:10795743 U3|U3.6 pseudo 1342825 RNU4-1 RNA, U4 small nuclear 1 14691257,12384583,9847074,6169000,3582982,2176635 26835 NR_003925,AC004263,M15956,V00592,X59361 GDB:10795746 RNU4A|RNU4B2|U4|U4BL rna, u4b2 small nuclear snrna 1350883 RNU4-1B RNA, U4 small nuclear 1B 6169000 26836 NR_002759,K00472 GDB:10795745 RNU4B1|U4A|U4b|rnu4b1 rna, u4b1 small nuclear snrna 1354125 RNU4-2 RNA, U4 small nuclear 2 9847074,6169000,3582982 26834 NR_003137,AC004263,M15957,K00473 GDB:10795747 RNU4C|U4c|rnu4c rna, u4c small nuclear snrna 1347384 RNU4A RNA, U4A small nuclear 14691257,12384583,6169000,2176635 26837 V00592,X59361 GDB:10795744 U4 snrna 1343871 RNU4P1 RNA, U4 small nuclear pseudogene 1 (U4/7) 2583518 6069 NG_001186,AL357561,M24746 GDB:118864 U4|U4/7 pseudo 1351806 RNU4P2 RNA, U4 small nuclear pseudogene 2 (U4/14) 2583518 6070 NG_001187,AC017099,M24745 GDB:118865 U4|U4/14 pseudo 1349079 RNU4P3 RNA, U4 small nuclear pseudogene 3 2582241 26841 NG_001252,AC023043,M11384,X02651 GDB:10795748 U4|U4/4 pseudo 1346431 RNU4P4 RNA, U4 small nuclear pseudogene 4 2582241 26840 NG_001251,AC108667,X02652 GDB:10795749 U4|U4/5 pseudo 1343805 RNU4P5 RNA, U4 small nuclear pseudogene 5 2582241 26839 NG_001250,AL354951,X02653 GDB:10795750 U4|U4/6 pseudo 1351832 RNU4P6 RNA, U4 small nuclear pseudogene 6 2582241 26838 NG_001249,AL929302,X02654 GDB:10795751 U4|U4/8 pseudo 1354124 RNU5A RNA, U5A small nuclear 1302268 6164980,1310151 1302268 26833 X04215 GDB:10795752 U5A snrna 1345743 RNU5B-1 RNA, U5B small nuclear 1 1302268 6164980,1310151 1302268 26832 NR_002757,AC105129,X04293 GDB:10795753 RNU5B|RNU5B-1P|U5B1 pseudo 2293168 RNU5B-2P RNA, U5B small nuclear 2 pseudogene 100147750 NG_007589,AC121754 pseudo 2293167 RNU5B-3P RNA, U5B small nuclear 3 pseudogene 100147751 NG_007590,AC104165 pseudo 2293166 RNU5B-4P RNA, U5B small nuclear 4 pseudogene 100147752 NG_007591,AC142391 pseudo 2293165 RNU5B-5P RNA, U5B small nuclear 5 pseudogene 100147753 NG_007592,AL627223 pseudo 2293164 RNU5B-6P RNA, U5B small nuclear 6 pseudogene 100147754 NG_007593,AL138766 pseudo 1353881 RNU5C RNA, U5C small nuclear 1302268 6200827,1310151 1302268 26831 NR_002756,AC068213,K03167 GDB:10795754 U5B1 snrna 1350907 RNU5D RNA, U5D small nuclear 1302268 1310151 1302268 26830 NR_002755,AL122004,M77838 GDB:10795755 U5DL|U5DS snrna 1346894 RNU5E RNA, U5E small nuclear 1302268 1310151 1302268 26829 NR_002754,AL021155,M77839 GDB:10795756 U5E snrna 1344416 RNU5F RNA, U5F small nuclear 1302268 1310151 1302268 26828 NR_002753,AL122004,M77840 GDB:10795757 U5F snrna 1343798 RNU6-1 RNA, U6 small nuclear 1 3360322,15469824 26827 NR_004394,M14486 GDB:10795758 RNU6|RNU6A|U6 snrna 1350166 RNU6-2 RNA, U6 small nuclear 2 6173742 26826 NR_002752,AL138764,K03099 GDB:10795759 RNU6B|U6 snrna 1351539 RNU6P1 RNA, U6 small nuclear pseudogene 1 2998934 26825 NG_001248,AL031393,K03026 GDB:10795760 U6 pseudo 1346459 RNU6V RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence 1829158 6071 X54048 GDB:686328 87U6|LH87 pseudo 2293174 RNU7 RNA, U7 small nuclear 18267300,9074930,8723724 100147744 NR_023317,U47924 RNU7-1|U7.1 snrna 2293289 RNU7-10P RNA, U7 small nuclear 10 pseudogene 18267300 100147758 NG_007597,AC104451 U7.10 pseudo 2293288 RNU7-11P RNA, U7 small nuclear 11 pseudogene 18267300,9847074 100147759 NG_007598,AC108471 U7.11 pseudo 2293287 RNU7-12P RNA, U7 small nuclear 12 pseudogene 18267300 100147760 NG_007599,AL160291 FLJ10376|U7.12 pseudo 2293286 RNU7-13P RNA, U7 small nuclear 13 pseudogene 18267300 100147761 NG_007600,AL136086 U7.13 pseudo 2293285 RNU7-14P RNA, U7 small nuclear 14 pseudogene 18267300 100147762 NG_007601,AC005914 U7.14 pseudo 2293284 RNU7-15P RNA, U7 small nuclear 15 pseudogene 18267300 100147763 NG_007602,AC004500 U7.15 pseudo 2293283 RNU7-16P RNA, U7 small nuclear 16 pseudogene 18267300 100147764 NG_007603,AC009244 U7.16 pseudo 2293282 RNU7-17P RNA, U7 small nuclear 17 pseudogene 18267300 100147765 NG_007604,AC091043 U7.17 pseudo 2293281 RNU7-18P RNA, U7 small nuclear 18 pseudogene 18267300 100147766 NG_007605,AC024937 U7.18 pseudo 2293280 RNU7-19P RNA, U7 small nuclear 19 pseudogene 18267300 100147767 NG_007606,AC103559 U7.19 pseudo 2293279 RNU7-20P RNA, U7 small nuclear 20 pseudogene 18267300,12853948 100147768 NG_007607,AC006323 U7.20 pseudo 2293278 RNU7-21P RNA, U7 small nuclear 21 pseudogene 18267300 100147769 NG_007608,AL593851 U7.21 pseudo 2293277 RNU7-22P RNA, U7 small nuclear 22 pseudogene 18267300 100147770 NG_007609,AL445071 U7.22 pseudo 2293276 RNU7-23P RNA, U7 small nuclear 23 pseudogene 18267300 100147771 NG_007610,AP003176 U7.23 pseudo 2293275 RNU7-25P RNA, U7 small nuclear 25 pseudogene 18267300 100147812 NG_007619,AP005431 U7.25 pseudo 2293274 RNU7-26P RNA, U7 small nuclear 26 pseudogene 18267300 100147813 NG_007620,Z98744 U7.26 pseudo 2293273 RNU7-27P RNA, U7 small nuclear 27 pseudogene 18267300 100147814 NG_007621,AC010655 U7.27 pseudo 2293272 RNU7-28P RNA, U7 small nuclear 28 pseudogene 18267300 100147815 NG_007622,AC026250 U7.28 pseudo 2293271 RNU7-29P RNA, U7 small nuclear 29 pseudogene 18267300 100147816 NG_007623,AL137792 U7.29 pseudo 2293173 RNU7-2P RNA, U7 small nuclear 2 pseudogene 18267300 100147745 NG_007583,AC009476 U7.2 pseudo 2293270 RNU7-30P RNA, U7 small nuclear 30 pseudogene 18267300 100147817 NG_007624,AL121784 U7.30 pseudo 2293269 RNU7-31P RNA, U7 small nuclear 31 pseudogene 18267300 100147818 NG_007625,AC055839 U7.31 pseudo 2293268 RNU7-32P RNA, U7 small nuclear 32 pseudogene 18267300 100147819 NG_007626,AC023891 U7.32 pseudo 2293267 RNU7-33P RNA, U7 small nuclear 33 pseudogene 18267300 100147820 NG_007627,AL390059 U7.33 pseudo 2293266 RNU7-34P RNA, U7 small nuclear 34 pseudogene 18267300 100147821 NG_007628,AC093206 U7.34 pseudo 2293265 RNU7-35P RNA, U7 small nuclear 35 pseudogene 18267300,9847074 100147822 NG_007629,AC004455 U7.35 pseudo 2293264 RNU7-36P RNA, U7 small nuclear 36 pseudogene 18267300 100147823 NG_007630,AL354989 FLJ20347|U7.36 pseudo 2293263 RNU7-37P RNA, U7 small nuclear 37 pseudogene 18267300,8267300 100147824 NG_007631,AL139396 KIAA0522|U7.37 pseudo 2293262 RNU7-38P RNA, U7 small nuclear 38 pseudogene 18267300 100147825 NG_007632,AC073370 U7.38 pseudo 2293261 RNU7-39P RNA, U7 small nuclear 39 pseudogene 18267300 100147826 NG_007633,AC087884 U7.39 pseudo 2293172 RNU7-3P RNA, U7 small nuclear 3 pseudogene 18267300 100147746 NG_007584,AL357619 U7.3 pseudo 2293260 RNU7-40P RNA, U7 small nuclear 40 pseudogene 18267300 100147827 NG_007634,AC025574 U7.40 pseudo 2293259 RNU7-41P RNA, U7 small nuclear 41 pseudogene 18267300 100147828 NG_007635,AL121603 U7.41 pseudo 2293258 RNU7-42P RNA, U7 small nuclear 42 pseudogene 18267300 100147829 NG_007636,AC009137 U7.42 pseudo 2293257 RNU7-43P RNA, U7 small nuclear 43 pseudogene 18267300 100147830 NG_007637,AC026130 U7.43 pseudo 2293256 RNU7-44P RNA, U7 small nuclear 44 pseudogene 18267300 100147831 NG_007638,AC010894 U7.44 pseudo 2293255 RNU7-45P RNA, U7 small nuclear 45 pseudogene 18267300 100147832 NG_007639,AC007283 U7.45 pseudo 2293254 RNU7-46P RNA, U7 small nuclear 46 pseudogene 18267300 100147833 NG_007640,AC084377 U7.46 pseudo 2293253 RNU7-47P RNA, U7 small nuclear 47 pseudogene 18267300 100147834 NG_007641,AC022291 U7.47 pseudo 2293252 RNU7-48P RNA, U7 small nuclear 48 pseudogene 18267300 100147835 NG_007642,AL078591 FLJ11049|U7.48 pseudo 2293251 RNU7-49P RNA, U7 small nuclear 49 pseudogene 18267300 100147836 NG_007643,AC018523 U7.49 pseudo 2293171 RNU7-4P RNA, U7 small nuclear 4 pseudogene 18267300 100147747 NG_007585,AC025423 U7.4 pseudo 2293250 RNU7-50P RNA, U7 small nuclear 50 pseudogene 18267300 100147837 NG_007644,AC090587 U7.50 pseudo 2293246 RNU7-51P RNA, U7 small nuclear 51 pseudogene 18267300 100151647 NG_007669,AL162872 U7.51 pseudo 2293245 RNU7-52P RNA, U7 small nuclear 52 pseudogene 18267300 100151648 NG_007670,AC008026 U7.52 pseudo 2293244 RNU7-53P RNA, U7 small nuclear 53 pseudogene 18267300 100151649 NG_007671,AC004226 U7.53 pseudo 2293243 RNU7-54P RNA, U7 small nuclear 54 pseudogene 18267300 100151650 NG_007672,AC010655 U7.54 pseudo 1348179 RNU7-55P RNA, U7 small nuclear 55 pseudogene 18267300,2249787 6075 NG_001191,AC087579,M35540 GDB:128609 HSU7.36|HSU7.55|RNU7P4|U7|U7.55 RNA, small nuclear U7 pseudogene 4|rna, u7 small nuclear pseudogene 4 pseudo 2293242 RNU7-56P RNA, U7 small nuclear 56 pseudogene 18267300 100151651 NG_007673,BX004861 U7.56 pseudo 2293241 RNU7-57P RNA, U7 small nuclear 57 pseudogene 18267300 100151652 NG_007674,AL162591 DKFZp434M202|U7.57 pseudo 2293240 RNU7-58P RNA, U7 small nuclear 58 pseudogene 18267300 100151653 NG_007675,AP000442 U7.58 pseudo 2293239 RNU7-59P RNA, U7 small nuclear 59 pseudogene 18267300 100151654 NG_007676,AP002789 U7.59 pseudo 2293170 RNU7-5P RNA, U7 small nuclear 5 pseudogene 18267300 100147748 NG_007586,AC025580 U7.5 pseudo 2293238 RNU7-60P RNA, U7 small nuclear 60 pseudogene 18267300 100151655 NG_007677,AC007450 U7.60 pseudo 2293237 RNU7-61P RNA, U7 small nuclear 61 pseudogene 18267300 100151656 NG_007678,AC116348 U7.61 pseudo 2293236 RNU7-62P RNA, U7 small nuclear 62 pseudogene 18267300 100151657 NG_007679,AL513044 U7.62 pseudo 2293235 RNU7-63P RNA, U7 small nuclear 63 pseudogene 18267300 100151658 NG_007680,AC007224 U7.63 pseudo 2293234 RNU7-64P RNA, U7 small nuclear 64 pseudogene 18267300 100151662 NG_007681,AC016753 U7.64 pseudo 2293233 RNU7-65P RNA, U7 small nuclear 65 pseudogene 18267300 100151663 NG_007682,AL035687 U7.65 pseudo 2293232 RNU7-66P RNA, U7 small nuclear 66 pseudogene 18267300 100151664 NG_007683,AL450336 U7.66 pseudo 2293231 RNU7-67P RNA, U7 small nuclear 67 pseudogene 18267300 100151665 NG_007684,AP001330 U7.67 pseudo 1344928 RNU7-68P RNA, U7 small nuclear 68 pseudogene 18267300,2249787,2175614 6072 NG_001188,AC002476,M35537 GDB:128606 HSU7.732A|RNU7P1|U7|U7.68 RNA, small nuclear U7 pseudogene 1|rna, u7 small nuclear pseudogene 1 pseudo 2293230 RNU7-69P RNA, U7 small nuclear 69 pseudogene 18267300 100151666 NG_007685,AL023575 U7.69 pseudo 2293169 RNU7-6P RNA, U7 small nuclear 6 pseudogene 18267300 100147749 NG_007587,AL356354 U7.6 pseudo 2293229 RNU7-70P RNA, U7 small nuclear 70 pseudogene 18267300 100151667 NG_007686,AL929470 U7.70 pseudo 2293228 RNU7-71P RNA, U7 small nuclear 71 pseudogene 18267300,9847074 100151668 NG_007687,AC004943 U7.71 pseudo 2293227 RNU7-72P RNA, U7 small nuclear 72 pseudogene 18267300 100151669 NG_007688,AL162615 U7.72 pseudo 2293226 RNU7-73P RNA, U7 small nuclear 73 pseudogene 18267300 100151670 NG_007689,AP006240 U7.73 pseudo 2293225 RNU7-74P RNA, U7 small nuclear 74 pseudogene 18267300,9847074 100151671 NG_007690,AC098869 U7.74 pseudo 2293224 RNU7-75P RNA, U7 small nuclear 75 pseudogene 18267300 100151672 NG_007691,AC025449 U7.75 pseudo 2293223 RNU7-76P RNA, U7 small nuclear 76 pseudogene 18267300,9847074 100151673 NG_007692,AC073115 U7.76 pseudo 2293222 RNU7-77P RNA, U7 small nuclear 77 pseudogene 18267300 100151674 NG_007693,AL157783 U7.77 pseudo 2293221 RNU7-78P RNA, U7 small nuclear 78 pseudogene 18267300 100151675 NG_007694,AL121983 KIAA2025|U7.78 pseudo 2293220 RNU7-79P RNA, U7 small nuclear 79 pseudogene 18267300 100151676 NG_007695,AC104046 U7.79 pseudo 2293292 RNU7-7P RNA, U7 small nuclear 7 pseudogene 18267300 100147755 NG_007594,AF241726 U7.7 pseudo 2293219 RNU7-80P RNA, U7 small nuclear 80 pseudogene 18267300 100151677 NG_007696,AL136120 U7.80 pseudo 2293218 RNU7-81P RNA, U7 small nuclear 81 pseudogene 18267300 100151678 NG_007697,AC013414 U7.81 pseudo 2293217 RNU7-82P RNA, U7 small nuclear 82 pseudogene 18267300 100151679 NG_007698,AC079910 U7.82 pseudo 2293216 RNU7-83P RNA, U7 small nuclear 83 pseudogene 18267300,12853948 100151680 NG_007699,AC007567 U7.83 pseudo 2293215 RNU7-84P RNA, U7 small nuclear 84 pseudogene 18267300 100151681 NG_007700,AC090579 U7.84 pseudo 2293214 RNU7-85P RNA, U7 small nuclear 85 pseudogene 18267300 100151682 NG_007701,AC016240 U7.85 pseudo 2293291 RNU7-8P RNA, U7 small nuclear 8 pseudogene 18267300 100147756 NG_007595,AC093575 U7.8 pseudo 2293290 RNU7-9P RNA, U7 small nuclear 9 pseudogene 18267300 100147757 NG_007596,AC007559 U7.9 pseudo 1353502 RNU7P2 RNA, small nuclear U7 pseudogene 2 2249787 6073 NG_001189,AC002476,M35538 GDB:128607 HSU7.7/32B|U7 rna, u7 small nuclear pseudogene 2 pseudo 1351616 RNU7P3 RNA, small nuclear U7 pseudogene 3 18267300,10493829,2249787 6074 NG_001190,NG_007611,AC004125,M35539 GDB:128608 HSU7.24|RNU7-24P|U7 rna, u7 small nuclear pseudogene 3 pseudo 1344372 RNU86 RNA, U86 small nucleolar Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968 116936 NR_000026,AJ238852,AL022326 GDB:11507624 U82|U86 snorna 1346002 RNUXA RNA U, small nuclear RNA export adaptor (phosphorylation regulated) 15130578,11333016,15574333,15574332,15489334,14702039,12477932,10786834,9373149,8125298 51808 NM_032177,AC099513,CH471086,AK023255,AK024065,AK225464,BC021161,CR457305,CR614349,N44678 NP_115553,EAW48850,BAB14489,BAB14809,AAH21161,CAG33586,Q9H814,ABM87541 Hs.555731,Hs.693680 GDB:10796622 FLJ13193|PHAX protein-coding 1352429 RNY1 RNA, Ro-associated Y1 8836182,6187471 6084 NR_004391,V00584 GDB:136201 HY1|Y1 rna, y1 small cytoplasmic (associated with ro protein) scrna 1347190 RNY3 RNA, Ro-associated Y3 8836182,6187471 6085 NR_004392,V00585 GDB:136202 HY3|Y3 rna, y3 small cytoplasmic (associated with ro protein) scrna 1350493 RNY4 RNA, Ro-associated Y4 8836182,7520568 6086 NR_004393,L32608 GDB:136203 HY4|Y4 rna, y4 small cytoplasmic (associated with ro protein) scrna 1342917 RNY4P1 RNA, Ro-associated Y4 pseudogene 1 1378808 6087 NG_005036,M77131 GDB:136204 hY4.B8 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 1 pseudo 1347955 RNY4P2 RNA, Ro-associated Y4 pseudogene 2 1378808 6088 NG_005037,AC055866,M77130 GDB:136205 hY4.B7 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 2 pseudo 1351444 RNY4P3 RNA, Ro-associated Y4 pseudogene 3 1378808 6089 NG_005038,AC007610,M77132 GDB:136206 hY4.F2 rna, y4 small cytoplasmic (associated with ro protein) pseudogene 3 pseudo 1345142 RNY5 RNA, Ro-associated Y5 18056422,8836182,7520568 6090 NR_001571,AC073140,U64824 Hs.643503 GDB:433727 Y5 rna, y5 small cytoplasmic (associated with ro protein) scrna 735617 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. In Drosophila, the roundabout gene, a member of the immunoglobulin gene superfamily, encodes an integral membrane protein that is both an axon guidance receptor and a cell adhesion receptor. This receptor is involved in the decision by axons to cross the central nervous system midline. The protein encoded by this gene is structurally similar to the Drosophila roundabout protein. Two transcript variants encoding different isoforms have been found for this gene. 9458045,12504588,9608531,18387595,17968499,17848514,17671369,17671114,17081983,17062560,16740745,16685377,16641997,16636676,16254601,15489334,14702039,12892710,12477932,12471613,12082532,11672528,11404413,10892742,10433822,10102268,9796701 6091 NM_133631,NM_002941,AC016946,AC055731,AC106718,AC106720,AC108719,AC117461,AC117479,AC119035,AC123565,AC125815,AC131008,CH471110,Z95705,AF040990,AK025535,AK095256,BC001969,BC029676,BC112336,BC115020,BC115022,BC157861,BX538319 NP_002932,NP_598334,EAW68884,EAW68885,EAW68886,EAW68887,EAW68888,AAC39575,AAH01969,AAI12337,AAI15021,AAI15023,AAI57862,CAD98093,Q1RMC7,Q1RMC8,Q2M1J3,Q9Y6N7 Hs.13640 GDB:9835734 DUTT1|FLJ21882|MGC131599|MGC133277|SAX3 roundabout homolog 1 (drosophila) protein-coding 736256 ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila) 61733,1580863 9458045,12504588,10197527,15130495,18235093,17357069,16829019,15489334,12477932,11404413,10997877,10102268,11754167 61733 6092 NM_002942,AC016952,AC117515,AC117516,AC131005,AC133040,AC138974,CH471110,AB046788,AF040991,AK074780,BC064374,BC146772,BX648828,DQ533873,DQ533874 NP_002933,EAW68889,BAB13394,AAC39576,BAC11205,AAH64374,AAI46773,ABF83430,ABF83431,Q19AB4,Q19AB5,Q8NCE6,Q9HCK4 Hs.13305 GDB:9835735 KIAA1568|SAX3 roundabout (axon guidance receptor, drosophila) homolog 2 protein-coding 1322248 ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 15105459,18270976,17671968,16525029,16226035,15824346,14702039,12477932,12177379,10049565,9373149,8125298 64221 NM_022370,AP003501,CH471065,AK024697,AK225076,AK291045,AY509035,BC008623,BC086878,BC113744 NP_071765,EAW67602,EAW67603,EAW67604,EAW67605,EAW67606,EAW67607,EAW67608,EAW67609,BAB14966,BAF83734,AAS91662,AAH08623,Q96HH0,Q96MS0,Q9H7C7,AAI48594 Hs.435621 FLJ21044|HGPPS|HGPS|RBIG1|RIG1 protein-coding 1345935 ROBO4 roundabout homolog 4, magic roundabout (Drosophila) 1580863 14527427,15849270,15894287,18270976,17671968,17496152,17495228,16685377,16335952,15489334,14702039,12975309,12941633,12477932,11944987,11076864 54538 NM_019055,AP003501,CH471065,AF361473,AK000805,AK025195,AK027852,AK074163,AK289769,AY358083,BC014995,BC025675,BC039602,BC064643,BC111562,BC111748 NP_061928,EAW67610,EAW67611,EAW67612,EAW67613,AAL31867,BAA91382,BAB15082,BAB55411,BAB84989,BAF82458,AAQ88450,AAH39602,AAH64643,AAI11563,AAI11749,Q8WZ75 Hs.524121 GDB:11507626 FLJ20798|MGC133352|MGC133353|MRB protein-coding 733751 ROCK1 Rho-associated, coiled-coil containing protein kinase 1 This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. 1580863 16249185,8798490,10436159,18239683,18204440,18079197,17855350,17853893,17728102,17673200,17651694,17346310,17344417,17244674,17174923,17172270,17167780,17138966,17044646,17028776,17012370,16983089,16978606,16891369,16825579,16784244,16772336,16760434,16712513,16687572,16543245,16413470,16407310,16371346,16344560,16141422,15956119,15910744,15855233,15843433,15723050,15713824,15665056,15647781,15611088,15494373,15252450,15247219,15231748,15208091,15096506,15044207,14962675,14718574,14716844,14702039,14660612,14657354,14610060,14517206,12850840,12778124,12773565,12749591,12729902,12600888,12563012,12482610,12477932,12220642,12193698,12177195,12034773,11992112,11931630,11893932,11818523,11751986,11739394,11387207,11340065,11283607,11018042,10970850,10818093,10652353,10601309,10579722,10574968,10559936,10508479,10209029,9856983,9722579,9565595,9516463,9456324,9354661,9099667,8816443,8617235,7822264,2155236,2114109,12748184,15797222,15793569 6093 NM_005406,AC022795,AC036178,CH471088,AB208965,AK057038,AU121527,BC041849,BC113114,DQ786321,U43195 NP_005397,EAX01119,BAD92202,AAH41849,AAI13115,AAB02814,Q13464,Q2KHM4,Q49AA3,Q59GZ4 Hs.706819 GDB:7166823 MGC131603|MGC43611|P160ROCK rho-associated kinase beta protein-coding 731503 ROCK2 Rho-associated, coiled-coil containing protein kinase 2 The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. 1580863 17353931,9933571,17596509,17446864,17344417,17167780,17081983,17012370,16996686,16964243,16585408,16531242,15699075,15302935,15044207,12600888,12482610,12477932,12185584,12176052,12126956,12102637,11931630,10601309,9734811,9463375,15797222 9475 NM_004850,AC018463,AC099344,CH471053,AB014519,BC111801,BG539531,CD652480,D87931 NP_004841,AAX93049,AAY14825,EAX00937,EAX00938,BAA31594,AAI11802,BAA75636,O75116,Q14DU5,Q53QZ0,Q53SJ7 Hs.591600 GDB:9956803 KIAA0619 rho-associated coiled-coil forming kinase 2 protein-coding 732344 ROD1 ROD1 regulator of differentiation 1 (S. pombe) ROD1 is a functional homolog of nrd1, an S. pombe RNA-binding protein that suppresses the onset of differentiation.[supplied by OMIM] 704461 10207106,15489334,14702039,12477932 704461 9991 NM_005156,BC039896,BC044585,BC045825,BI463123,BQ006891,BX422279,CR596589,CR749471,AL158824,AL359073,CH471105,AB023967,AK001685 NP_005147,AAH39896,AAH44585,CAH18301,O95758,Q5T4E4,Q5T4E5,Q5T4E6,Q5T8V8,Q5T8V9,Q68DB9,CAI12349,CAI12350,CAI12351,CAI12353,CAI12354,CAI14112,CAI14113,CAI14114,EAW59099,EAW59100,EAW59101,EAW59102,BAA75466 Hs.269988 GDB:9958561 DKFZp781I1117 protein-coding 1603007 ROGDI rogdi homolog (Drosophila) 11256614,16381901,16169070,15489336,14702039,12477932,11230166,11076863 79641 NM_024589,AC020663,CH471112,AK026039,AK054707,AK098348,AL136675,BC012901,CR457355,CR533547,CR592312,CR603174,CR608501,CR616895,CR618679,CR621340 NP_078865,EAW85258,EAW85259,EAW85260,EAW85261,BAB15331,CAB66610,AAH12901,CAG33636,CAG38578,Q9GZN7,CAL38033 Hs.459795 FLJ22386 protein-coding 1314474 ROM1 retinal outer segment membrane protein 1 This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. 1580863 1610568,16554811,15489334,12477932,11641407,11559856,10681511,9331261,8938448,8595413,8504299,8202715,7904211,1415249,1302019 6094 BC036268,L07894,NM_000327,AP001458,CH471076,M96759,BC008100 AAA60274,Q03395,NP_000318,EAW74041,AAA60272,AAH08100 Hs.281564 GDB:120350 ROM|ROSP1|TSPAN23 protein-coding 1345670 RONU Rowett nude 5492 GDB:136260 1344223 ROPN1 ropporin, rhophilin associated protein 1 1580863 17551920,12477932,11278869,10591629 54763 NM_017578,AC117381,CH471052,AF303889,AL133624,BC132744,BC132746 NP_060048,EAW79425,EAW79426,EAW79427,AAG27712,CAB63750,AAI32745,AAI32747,Q9HAT0 Hs.567516 DKFZp434B1222|ODF6|RHPNAP1|ROPN1A|ropporin protein-coding 1603561 ROPN1B ropporin, rhophilin associated protein 1B 11278869,12477932 152015 NM_001012337,AC092903,CH471052,AF231410,BC015413,BC141849 NP_001012337,EAW79382,EAW79383,AAG59586,AAH15413,AAI41850,Q9BZX4,AAI40023 Hs.663128 protein-coding 1319640 ROPN1L ropporin 1-like The protein encoded by this gene is a sperm protein, which interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Type II regulatory subunit of cAMP-dependent protein kinase (PKARII) also binds to this helix domain of AKAP3, which allows PKARII to be targeted to specific subcellular compartments. It is suggested that sperm contains several proteins that bind to AKAPs in a manner similar to PKARII, and this encoded protein may be one of them. 737633 12477932,11278869 737633 83853 NM_031916,AC092336,CH471102,AF239723,AK026656,AK098642,BC014607,BX113042,CR621673 NP_114122,EAX08063,EAX08064,AAG59587,BAB15517,AAH14607,Q96C74,Q9H5V2 Hs.381089 ASP|FLJ23003|FLJ25776 protein-coding 1352147 ROR1 receptor tyrosine kinase-like orphan receptor 1 The protein encoded by this gene is a receptor protein tyrosine kinase that modulates neurite growth in the central nervous system. It is a type I membrane protein and belongs to the ROR subfamily of cell surface receptors. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 8875995,1334494,18354269,18287027,18223214,16710414,15654020,12477932,11713269,9143508 4919 NM_001083592,AL137859,AL138793,AL161742,AL353713,AL445205,AL808029,AL808030,CH471059,BC006374,BC080541,BC128386,M97675,NM_005012 Q01973,Q66K77,AAI56512,NP_005003,NP_001077061,EAX06555,EAX06556,EAX06557,AAH80541,AAI28387,AAA60275 Hs.654491 GDB:136453 MGC99659|NTRKR1|dJ537F10.1 protein-coding 1313207 ROR2 receptor tyrosine kinase-like orphan receptor 2 The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. 1580863 1334494,18215320,17717073,17668388,17665217,17619808,17101003,15388793,15164053,14752058,12919145,12839624,12815588,12754255,12477932,12011143,11062486,10986040,10932187,10932186,10700182,9973296,17095577,15654020 4920 AF254747,AF254748,AF254749,AF254750,AF254751,AF254752,AF254753,AF279755,AF279756,AF279757,AF279758,AF279759,AF279760,AF279761,AF279762,AF294796,AL391219,AL583841,AL591214,AL928802,CH471089,AA626834,NM_004560,AB209154,BC033697,BC051273,BC126454,BC130522,M97639 NP_004551,AAG33132,AAG01184,CAI15694,EAW62798,EAW62799,EAW62800,EAW62801,EAW62802,BAD92391,AAI30523,AAA60276,Q01974 Hs.98255,Hs.644776 GDB:136454 BDB|BDB1|MGC163394|NTRKR2 protein-coding 1318175 RORA RAR-related orphan receptor A The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Four transcript variants encoding different isoforms have been described for this gene. 1580863 16713569,17545671,7926749,17512500,16632463,16539693,16189514,15886715,15790933,15781255,15662020,15489334,15013753,14742449,14741380,14722075,12477932,12377782,12168086,12114512,11121580,10900268,10478845,9862959,8858107,7935491,7916608,7838158,7706239,7490103 6095 CQ834190,CQ834192,CQ834194,AL530219,BC008831,BC100987,BC100988,BC100989,BC100990,BG705319,CR591459,CR611772,L14611,U04897,U04898,U04899,NM_134260,NM_002943,NM_134262,AC009560,AC012404,AC022898,AC079068,AC087385,AC107241,AC107905,CH471082,CQ834188,NM_134261 CAH05310,CAH05311,CAH05312,AAH08831,AAI00988,AAI00989,AAI00990,AAI00991,AAA02963,AAA62658,AAA62659,AAA62660,P35398,Q495X4,NP_599023,NP_599022,NP_002934,NP_599024,EAW77593,EAW77594,EAW77595,EAW77596,CAH05309 Hs.695914 GDB:547955 MGC119326|MGC119329|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA protein-coding 1315588 RORB RAR-related orphan receptor B The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The specific functions of this protein are not known, but it has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation. 1580863 8858107,7935491,15164053,12958591,12477932,11849752,11689423,11504880,11121580,10860982,9670004,8905729,8889548,8816759,7926749,885817 6096 NM_006914,AL137018,AL355674,CH471089,AL118995,AL691650,BC051830,BC093772,BC093774,BM669680,BM698896,BX647070,CR594193,Y08639 NP_008845,CAD13280,EAW62552,AAH51830,AAH93772,AAH93774,CAA69929,Q5VY75,Q92753,ABZ92181 Hs.494178 GDB:547957 NR1F2|ROR-BETA|RZR-BETA|RZRB|bA133M9.1 protein-coding 1317896 RORC RAR-related orphan receptor C The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. 1580863 17504012,17240331,16381901,15489336,15489334,14702039,12855222,12477932,11983153,11230166,11076863,10963675,10875923,10602018,9403063,9373149,8125298,7811290 6097 NM_005060,NM_001001523,AL589765,CH471121,AF075096,AK097994,AK128522,AK223137,AL834219,AW004872,BC031554,BC110571,BI520481,CB161467,CR457436,U16997 NP_005051,NP_001001523,CAI17179,CAI17180,EAW53405,EAW53406,BAD96857,CAD38900,AAH31554,AAI10572,CAG33717,P51449,Q0JRW3,Q53FZ4,Q5SZR9,Q6I9R9,CAL38693,CAL38751,ABM81731,ABM84886,AAA64751 Hs.256022,Hs.607993 GDB:547958 MGC129539|NR1F3|RORG|RZR-GAMMA|RZRG|TOR protein-coding 736329 ROS1 c-ros oncogene 1 , receptor tyrosine kinase This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. 1580863 2827175,3785223,18097620,17967605,17275003,16761743,16175505,15456853,15235104,14574404,12661006,12538861,11266449,11094073,8675006,3115921,3023956,2691958,2352949,1611909 6098 NM_002944,AL132671,CH471051,M13599,Z98880,M13880,M34353,X51619 NP_002935,EAW48208,EAW48209,AAA60277,CAI42373,CAI42374,CAI42375,AAA36580,AAA60278,P08922,Q5H8Y3,Q5TDB4,AAI66687 Hs.1041 GDB:120351 MCF3|ROS|c-ros-1 protein-coding 1346819 RP spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit 6099 GDB:9958158 1318061 RP1 retinitis pigmentosa 1 (autosomal dominant) Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology. 1580863 10391211,18347624,17286855,16568030,14702039,12882812,12764676,12048676,11790298,11773008,10401003,10391212,10188731,1783394,16185528,15980210,15863674,15183808 6101 NM_006269,AF128525,AF143226,AF152242,AY672590,CH471068,AF141021,AF143222,AF146592,AK098176,DQ980612,DQ980613,DQ980614,DQ980615 NP_006260,AAD44197,AAD46774,AAT75005,EAW86749,AAD42072,AAD44198,AAD46769,ABJ97137,ABJ97138,ABJ97139,ABJ97140,A0FDN2,P56715,Q6DKV0,AAI56508 Hs.458845 GDB:120352 DCDC4A|ORP1 protein-coding 1354228 RP10 retinitis pigmentosa 10 (autosomal dominant) 8513324 6105 GDB:138786 1605504 RP11-45B20.2 collagen triple helix repeat-containing 12477932 387911 NM_001007537,AL445985,AX525130,BC110413,BC137004 NP_001007538,CAM20041,CAM20042,CAD57043,AAI10414,AAI37005 Hs.642624 MGC117159 protein-coding 1601768 RP11-529I10.4 deleted in a mouse model of primary ciliary dyskinesia 17353931,16189514,14630615,12477932 25911 NM_015448,AL627424,CH471066,AK290154,AL110240,AY532267,BC001082,BC031695 NP_056263,CAI41039,CAI41040,CAI41041,EAW49754,EAW49755,BAF82843,CAB53691,AAS46252,AAH01082,AAH31695,Q9BVM2 Hs.658128 DKFZP566F084 protein-coding 1602655 RP11-68I18.1 hypothetical protein MGC29891 14702039,12477932 126626 NM_144618,AL590133,AL592424,AL691467,CH471121,AK092230,BC027033,CR626488 NP_653219,CAI13351,CAI13352,CAI16391,CAI16392,CAH73759,CAH73760,EAW53473,EAW53474,EAW53475,BAC03833,AAH27033,Q8TAK5 Hs.654699 MGC29891 protein-coding 1352623 RP17 retinitis pigmentosa 17 (autosomal dominant) 7581389 6111 GDB:683199 1319776 RP1L1 retinitis pigmentosa 1-like 1 1580863 15094057,14702039,12724644,12634863 94137 NM_178857,AC104964,AC105001,AJ491324,AK127545,AY168341,AY168342,AY168343,AY168344,AY168345,AY168346 NP_849188,CAD36957,BAC87029,AAN86959,AAN86960,AAN86961,AAN86962,AAN86963,AAN86964,Q8IWN7 Hs.33538,Hs.689495 GDB:11508809 DCDC4B protein-coding 1345059 RP2 retinitis pigmentosa 2 (X-linked recessive) The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death 1580863,1599605 9697692,18376416,17724181,17093403,17081983,16969763,16936086,16472755,16457815,16344560,15772651,15489334,14566651,14564670,12657579,12477932,11992260,11847227,11798852,11462235,10942419,10937588,10862093,10634633,10520237,10090907,10053026,8938433,6325945,2876947 1599605 6102 NM_006915,AL050307,AL627143,CH471164,AJ007590,AL049366,BC027851,BC043348,BC053530,DA211161 NP_008846,CAH70614,EAW59275,CAA07577,AAH43348,AAH53530,O75695 Hs.44766 GDB:120353 KIAA0215|TBCCD2 protein-coding 1346565 RP21 retinitis pigmentosa 21 9135384 8020 1350078 RP22 retinitis pigmentosa 22 (autosomal recessive) 9545639 6114 GDB:9487407 1350835 RP23 retinitis pigmentosa 23 (X-linked recessive) 6115 GDB:9837371 1354304 RP24 retinitis pigmentosa 24 (X-linked recessive) 9792872 6116 GDB:9863230 1345668 RP25 retinitis pigmentosa 25 (autosomal recessive) 9585594,10417302 8414 GDB:9865052 1350951 RP28 retinitis pigmentosa 28 (autosomal recessive) 10507729 23680 GDB:10450515 1343032 RP29 retinitis pigmentosa 29 (autosomal recessive) 54110 GDB:10796623 1606261 RP5-1022P6.2 hypothetical protein KIAA1434 15489334,14702039,12477932,11780052,10718198 56261 AL109935,CH471133,AB037855,AK001947,AL049446,AL833069,BC027588,BG674365,BI561344,BP421674,CR623938,T79323,NM_019593 NP_062539,CAB91047,CAI18905,EAX10413,EAX10414,EAX10415,EAX10416,BAA92672,BAA91994,AAH27588,Q5QPE9,Q9NPB8 Hs.636359 FLJ11085|KIAA1434|MGC26147|PREI4 protein-coding 1346635 RP6 retinitis pigmentosa 6 (X-linked recessive) 6104 GDB:125381 1342620 RP9 retinitis pigmentosa 9 (autosomal dominant) 1580863 15652350,15556297,15541726,15489334,15474994,12690205,12477932,12032732,10931201,8513323,8079997 6100 NM_203288,AACC02000103,AC074338,AX016710,CH471073,BC025928 NP_976033,EAL24465,EAW94012,EAW94013,EAW94014,AAH25928,Q8TA86,ABZ92536 Hs.326805 GDB:333931 PAP-1 protein-coding 2289743 RP9P retinitis pigmentosa 9 pseudogene 12477932 441212 AK091223,BC036907,BC050570,NR_003500,AC018648,AC083863,AF274938 BAC03615,AAH50570,Q6ZTV8,Q86W53,Q8N255,Q9BZU6,AAK07516 Hs.648086 FLJ33904 pseudo 1316541 RPA1 replication protein A1, 70kDa 1580863 1311258,10825162,15897895,8756712,10583946,9111189,16135809,9826763,10214908,11080452,11473323,18245774,18003706,17765923,17721672,17700070,17700069,17616578,17591703,17583916,17507928,17494052,17110927,16893181,16731533,16522650,16520097,16438930,16169070,16082227,15965237,15735006,15653682,15620706,15489334,15456284,15279788,15273694,15180989,15096578,14966274,14747526,14605214,14596605,14499497,12791985,12754299,12621583,12614612,12486030,12477932,12181327,12171929,12139939,12077133,12050365,11972036,11968016,11950880,11927569,11895905,11884592,11751427,11479296,11254741,11092888,11063722,10473346,10373438,10064605,9461578,9396813,9121429,8990123,8454588,8020972,7760808,7565690,2050703,9084803,16306615,17296725,15856006,12973351,12527904,12181313,10608806,15205463,15489903 6117 NM_002945,AC130689,AY599563,CH471108,AB209732,AK289704,BC018126,CR592316,CR615851,M63488 NP_002936,AAS94324,EAW90574,BAD92969,BAF82393,AAH18126,AAA36584,P27694 Hs.461925,Hs.595562 GDB:138362 HSSB|REPA1|RF-A|RP-A|RPA70 protein-coding 1344829 RPA2 replication protein A2, 32kDa 1580863 15897895,2406247,10583946,9111189,16135809,9826763,10214908,11080452,11473323,17928296,17583916,17035231,16710414,16169070,15793585,15489334,15205463,12814551,12754299,12614612,12477932,11927569,11731442,11173472,11081631,10982866,10875894,10655057,10653628,10449415,10393198,10064605,9461578,9295339,9139719,9045683,8454588,12509449,8020972,7565690,1318195,16956949,9084803,15856006,16189514,11000264 6118 NM_002946,AL109927,CH471059,DQ001128,BC001630,BC012157,BC021257,CR450348,CR590863,CR594823,CR612693,J05249 NP_002937,CAI21774,CAI21775,CAI21776,CAI21777,CAI21778,EAX07724,AAX84514,AAH01630,AAH12157,AAH21257,CAG29344,AAA36560,P15927,Q5TEJ0,Q5TEJ7,ABM83278,ABM86747 Hs.79411,Hs.703070 GDB:138371 REPA2|RPA32 protein-coding 1352599 RPA2P replication protein A2 pseudogene 326628 NG_002610,AL359951 pseudo 1315635 RPA3 replication protein A3, 14kDa 1580863 8454588,12791985,10583946,9111189,9826763,10214908,11080452,11473323,18270339,17494052,15489334,12853948,12690205,12614612,12477932,11927569,11173472,11081631,10473346,9847074,9461578,8020972,7760808,9084803,17353931,16189514 6119 NM_002947,AC004948,AC007161,CH236948,CH471073,DQ003136,BC005264,BC009868,BT007320,CR610107,L07493 NP_002938,AAQ96878,EAL24304,EAW93603,EAW93604,EAW93605,AAX84517,AAH05264,AAH09868,AAP35984,AAA58350,P35244 Hs.487540 GDB:138376 REPA3 protein-coding 1350001 RPA4 replication protein A4, 34kDa 1580863 7760808,15929725,15772651,15489334,12477932,11092888,7565690,9084803 29935 NM_013347,AF494047,CH471115,Z86061,BC069791,BC069808,BC069824,BC104013,BC104014,U24186 NP_037479,AAM09569,EAX02794,CAI42256,AAH69791,AAH69808,AAH69824,AAI04014,AAI04015,AAB08488,Q13156 Hs.659349 HSU24186|MGC120333|MGC120334 protein-coding 1604268 RPAIN RPA interacting protein 16135809,16008515,15572679,15489334,14702039,12477932,9373149,8125298 84268 NM_001033002,AC004148,CH471108,AK096001,AK226044,AY680654,AY680655,AY680656,AY680657,AY680658,AY680659,AY680660,AY775314,AY775315,AY775316,AY775317,AY775318,AY775319,AY775320,AY775321,AY775323,BC004451,BC013831,BC046349,BC051849,BC062623,CR605756,CR612912 NP_001028174,EAW90338,EAW90339,AAT80872,AAT80874,AAT80875,AAT80873,AAT80876,AAT80877,AAT80878,AAX14368,AAX14369,AAX14370,AAX14371,AAX14372,AAX14373,AAX14374,AAX14375,AAX14377,AAH04451,AAH46349,AAH51849,Q86UA6 Hs.462086 HRIP|MGC4189|RIP protein-coding 1342806 RPAP1 RNA polymerase II associated protein 1 The function of this gene is unknown. 17374514,15345747,15302935,15282305,14702039,12477932,10718198 26015 NM_015540,AC016134,CH471125,AB037824,AK022794,AK290224,AL117479,AL157487,BC000246,CR592322,CR609844,CR610510 NP_056355,EAW92502,EAW92503,EAW92504,EAW92505,BAA92641,BAB14247,BAF82913,CAB55952,CAB75675,AAH00246,Q9BWH6 Hs.371045 DKFZP727M111|FLJ12732|KIAA1403|MGC858 protein-coding 1602679 RPAP2 RNA polymerase II associated protein 2 17643375,16710414,15489334,14702039,12477932,9373149,8125298 79871 NM_024813,AL451010,CH471097,AK023212,AK225054,BC031070,BC039014,CR613797 NP_079089,CAH70763,EAW73095,EAW73096,BAB14465,AAH31070,AAH39014,Q8IXW5 Hs.444421 C1orf82|FLJ13150|RP11-163M2.4 protein-coding 1603005 RPAP3 RNA polymerase II associated protein 3 17643375,15761153,12477932 79657 NM_024604,AC004241,CH471111,AK025561,BC056415 NP_078880,EAW57937,EAW57938,BAB15170,AAH56415,Q9H6T3 Hs.437855 FLJ21908|spag protein-coding 1320609 RPE ribulose-5-phosphate-3-epimerase 1599574,1580863,1641814 15231747,16189514,15901843,15489334,14702039,12477932,11124703,7396409,3366467,3236368,2581946 1599574,1641814 6120 NM_006916,NM_199229,AC007038,CH471063,AJ224326,AK056028,AK093658,AK096199,AK291035,AL833120,AY947714,BC005148,BC016764,BC063135,BC072401,CR621657,CR625804 NP_008847,NP_954699,AAX93087,EAW70472,EAW70473,EAW70474,CAA11895,BAB71076,BAC04212,BAF83724,AAY51626,AAH05148,AAH16764,AAH72401,Q4G1Y9,Q53TV9,Q96AT9 Hs.282260 GDB:120354 MGC2636|RPE2-1 protein-coding 732416 RPE65 retinal pigment epithelium-specific protein 65kDa This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. 737730,1580863 11786058,11727200,11462243,10766140,10386590,9801879,9501877,9501220,9328280,9326927,8474143,8340400,8034329,7633413,1331074,9326941,18484312,18216020,17848510,17724218,17651254,17197551,16754667,16518657,16272259,16198348,15837919,15557452,15489334,15009723,14962443,12960219,12477932,12357075 737730 6121 AF039868,AL139413,CH471059,DQ374435,U20510,AK289925,BC075035,NM_000329,BC075036,U18991 NP_000320,AAC39660,CAI18957,EAX06478,ABD37636,AAC14586,BAF82614,AAH75035,AAH75036,AAA99012,Q16518,Q2EKB8,Q5T9U3 Hs.2133 GDB:226519 LCA2|RP20|mRPE65|rd12|sRPE65 retinal pigment epithelium, 65 kda protein-coding 1602645 RPESP RPE-spondin 14702039,12477932,12107410 157869 NM_153225,AC022893,AC100823,CH471068,AK097340,AK292970,AY040546,BC042877,CR592835,CR594707,CR616775 NP_694957,EAW86995,EAW86996,BAC05006,BAF85659,AAK83466,AAH42877,Q8IVN8,Q8N846 Hs.439040 FLJ40021 protein-coding 1352855 RPGR retinitis pigmentosa GTPase regulator This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. 1599602,1599600,1599605,1580863 9990021,18332319,18188948,17923551,17898302,17480003,17405150,17325176,17249551,17195164,17093403,16969763,16936086,16935610,16917484,16387007,16273303,16052169,16043481,15914600,15790807,15772089,15723066,15489334,15364249,15342556,14627685,14566651,14564670,14516808,12920075,12766038,12657579,12477932,12160730,12140192,11992260,11875055,11857109,11754050,11702207,11180598,11104772,10980543,10970770,10958648,10958647,10937588,10932196,10737996,10725384,10482958,10480356,10401007,10094550,9855162,9677393,9418727,9399904,9373149,9326322,8889548,8817343,8673101,8125298,7611300,2300556,16189514,17893654,17724181 1599602,1599600,1599605 6103 NM_001034853,AF286471,AF286472,AJ318463,AL606748,CH471141,AJ238395,AK223491,AK291832,AY927527,NM_000328,BC031624,BK005711,BP233620,BX644678,CA313540,U57629,X97668 NP_000319,NP_001030025,AAG00550,AAG00551,CAC86116,EAW59441,EAW59442,EAW59443,EAW59444,CAB54002,BAD97211,BAF84521,AAH31624,DAA05713,AAC50481,CAA66258,Q3KN84,Q4VX65,Q53EZ8,Q92834,Q9HD28 Hs.61438 GDB:118736 COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15 protein-coding 1321922 RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1599580,1599581,1580863 17558407,17306875,16339905,16272259,15914599,15800011,15772089,15489334,12920076,12477932,12140192,11528500,11283794,11104772,10958648,10958647,16189514 1599580,1599581 57096 NM_020366,AJ417048,AL135744,CH471078,AF227257,AF260257,AF265666,AF265667,AJ417067,AW593388,AY914561,BC039089,BX571740 NP_065099,CAD01136,EAW66388,EAW66389,EAW66390,EAW66391,AAG10246,AAF91371,AAG10000,AAG10001,CAD01135,AAX11416,AAH39089,CAE11866,Q5D221,Q96KN7,AAI48361 Hs.126035 GDB:11498766 CORD9|DKFZp686P0897|LCA6|RGI1|RGRIP|RPGRIP|RPGRIP1d protein-coding 1603695 RPGRIP1L RPGRIP1-like 17558409,18426861,18256137,17960139,17558407,14702039,12477932,12107413,10231032 23322 NM_015272,AC007497,AC007909,AC084795,CH471092,AB023222,AK026552,AK093307,AK096333,BC017977,BQ576116,CD674885,CR749645,EF565106 NP_056087,EAW82810,BAA76849,AAH17977,CAH18439,Q68CZ1 Hs.298382 CORS3|DKFZp686C0668|JBTS7|KIAA1005|MKS5|NPHP8 protein-coding 1347244 RPH3A rabphilin 3A homolog (mouse) 1580863 11377421,17981610,17877635,15489334,15207266,12937130,12871946,12578829,12477932,10231032,10025402,9244430,8901523,8636125,8060298,7999065,7822236,7802677,7707875 22895 AB023202,BC002605,BC009843,BC017259,BX647281,NM_014954,AC004465,AC004551,CH471054 EAW98018,BAA76829,AAH02605,AAH09843,AAH17259,Q6PJY8,NP_055769,EAW98014,EAW98015,EAW98016,EAW98017,Q6PKD5,Q9Y2J0 Hs.21239 KIAA0985 protein-coding 1347963 RPH3AL rabphilin 3A-like (without C2 domains) 1580863 9367993,17981610,15489334,15159548,15003533,14702039,14593078,12621583,12578829,12477932,12446671,12375017,11134008,10707984,10395805 9501 NM_006987,AC108004,AC129507,CH471108,AF129812,AK000469,AK291950,BC005153,BC093776,BC113413 NP_008918,EAW90669,EAW90670,EAW90671,EAW90672,AAD45582,BAA91186,BAF84639,AAH05153,AAH93776,AAI13414,Q9UNE2 Hs.651925 GDB:9957201 NOC2 protein-coding 1322805 RPIA ribose 5-phosphate isomerase A (ribose 5-phosphate epimerase) 1599574,1580863,1641814 7758956,15489334,14988808,12477932,7396409,2843500,16189514 1599574,1641814 22934 NM_144563,AC062029,AC096579,CH471215,AY050633,BC015529,BF063086,CB989690,CR591516,CR592299,CR597054,CR599007,CR613216,CR620468,CR621693,CR624462,L35035 NP_653164,AAY14778,AAY24200,EAW77066,EAW77067,AAK95569,AAH15529,P49247,Q53R32,Q53SB2 Hs.469264 GDB:9957745 RPI protein-coding 1350175 RPL10 ribosomal protein L10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L10E family of ribosomal proteins. It is located in the cytoplasm. In vitro studies have shown that the chicken protein can bind to c-Jun and can repress c-Jun-mediated transcriptional activation, but these activities have not been demonstrated in vivo. This gene was initially identified as a candidate for a Wilms tumor suppressor gene, but later studies determined that this gene is not involved in the suppression of Wilms tumor. This gene has been referred to as 'laminin receptor homolog' because a chimeric transcript consisting of sequence from this gene and sequence from the laminin receptor gene was isolated; however, it is not believed that this gene encodes a laminin receptor. Transcript variants utilizing alternative polyA signals exist. The variant with the longest 3' UTR overlaps the deoxyribonuclease I-like 1 gene on the opposite strand. This gene is co-transcribed with the small nucleolar RNA gene U70, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 15189156,14567916,11256614,18258260,18007048,17566674,16940977,16381901,16331298,15772651,15635413,15489336,15489334,12962325,12477932,12138090,11076863,9582194,9443083,9373149,9204867,9016777,8780716,8733135,8722009,8668549,8125298,8076819,7821789,1658743,1534224,1339145,1330878,1303197 6134 CR614538,CR617177,CR621751,CR622051,CR623994,D17268,D28410,DQ369703,DQ369704,DQ369705,DQ369706,DQ369707,DQ369708,DQ369709,DQ369710,DQ369711,DQ369712,DQ369713,DQ369714,DQ369715,DQ369716,M64241,M73791,S35960,AB007170,NM_006013,BX936346,BX936347,CH471172,L44140,M81806,S64168,S64169,U37218,AF218023,AF486812,AK026568,AK027197,AK130582,AK223309,BC003358,BC018570,BC021806,BC026276,BC071918,BC095425,BX647954,CR456797,CR542069,CR593302,CR596152,CR596460,CR598560,CR602212,CR603980,CR609074,CR610011,CR612141,CR613467,CR614058 BAA05776,ABC88559,ABC88560,ABC88561,ABC88562,ABC88563,ABC88564,ABC88565,ABC88566,ABC88567,ABC88568,ABC88569,ABC88570,ABC88571,ABC88572,AAA63253,AAA36378,AAB22173,P27635,Q5HY50,Q9GZW2,CAL38215,BAA28595,NP_006004,CAI43230,CAI43231,CAM45853,CAO03567,CAI43214,CAI43215,EAW72736,EAW72737,EAW72738,EAW72739,EAW72740,EAW72741,AAA92646,AAA36021,AAB27665,AAD14832,AAG17265,AAL88713,BAB15688,BAD97029,AAH03358,AAH26276,AAH71918,CAG33078,CAG46866 Hs.534404,Hs.657751 GDB:9863232 DKFZp686J1851|DXS648|DXS648E|FLJ23544|FLJ27072|NOV|QM protein-coding 732410 RPL10A ribosomal protein L10a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 7609734,15189156,14567916,15635413,15489334,15342556,14574404,12962325,12694581,12477932,11790298,9647638,9582194,8722009,8607874,8012384,14743216 4736 NM_007104,AL022721,CH471081,Z54966,Z62020,AB082926,AF086557,BC006791,BC011366,BC013864,BC070216,BC116456,BP318268,BT020040,BT020041,CR593085,CR597757,CR598556,CR599594,CR605100,CR610132,CR622578,CR623823,U12404 NP_009035,CAB38627,EAX03831,EAX03832,EAX03833,EAX03834,BAC16802,AAH06791,AAH11366,AAH70216,AAI16457,AAV38843,AAV38844,AAA86463,P62906,Q1JQ76,ABM82056,ABM85235 Hs.148340,Hs.546269 GDB:270144 Csa-19|NEDD6 protein-coding 1346580 RPL10AP1 ribosomal protein L10a pseudogene 1 319135 NG_002513,AL133367 pseudo 1353200 RPL10AP2 ribosomal protein L10a pseudogene 2 253986 NG_005655,AC120036 pseudo 1314230 RPL10L ribosomal protein L10-like This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. This gene is intronless. 1580863 12490704,11256614,16381901,15489336,15489334,12477932,11076863 140801 NM_080746,AB063605,AL591768,CH471078,AB063608,AK130863,BC014310,BC066312 NP_542784,BAC19833,EAW65775,BAC19835,AAH14310,AAH66312,Q0JUJ9,Q96L21,CAL37812 Hs.308332 GDB:11507628 FLJ27353 protein-coding 1345803 RPL10P1 ribosomal protein L10 pseudogene 1 10830953 54030 NG_000911,AP001605,AP001699 GDB:11507630 RPL10P pseudo 1342477 RPL10P2 ribosomal protein L10 pseudogene 2 387041 1318594 RPL11 ribosomal protein L11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternative splice variants encoding different isoforms may exist, but they have not been fully characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 15195100,7748210,15189156,14567916,18389627,17599065,17116689,16803902,15489334,15308643,15152193,14612427,12962325,12815950,12477932,11790298,10353821,10343117,9582194,8722009,7821789,16189514,12842086 6135 NM_000975,AB007171,AF101385,AL451000,CH471134,AF432212,AY871274,BC018970,CR597577,CR597812,CR601780,CR625076,CR626653,D28357,L05092,X79234 ABM87711,ABW03860,Q5VVD0,NP_000966,BAA25831,AAD20460,CAH71472,CAH71473,CAH71474,EAW95067,EAW95068,AAL99919,AAX11430,AAH18970,BAA05723,AAC15856,CAA55816,P62913,Q08ES8,Q5VVC8,Q5VVC9 Hs.388664 GDB:9863234 GIG34 protein-coding 1314871 RPL12 ribosomal protein L12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 15189156,14567916,17081983,16964243,15635413,15592455,15489334,15164053,14702039,12477932,11809816,11790298,11101529,9582194,9013569,8722009,8441690,7821789 6136 NM_000976,AL445222,CH471090,AB209471,AK026526,AK057602,BC050644,BC059950,BC094831,BC105603,CR615987,CR622190,CR625201,D28443,L06505 NP_000967,CAH72929,EAW87666,EAW87667,EAW87668,EAW87669,EAW87670,BAD92708,AAH50644,AAH59950,AAH94831,AAI05604,BAA05809,AAA36157,P30050,Q59FI9,Q6PB27 Hs.408054 GDB:138448 protein-coding 1342774 RPL12L2 ribosomal protein L12-like 2 128467 NG_000964,AL031669 GDB:11507632 dJ661I20.1 pseudo 1346828 RPL12L3 ribosomal protein L12-like 3 85824 NG_000945,AL132821 GDB:11507634 dJ999L4.1 pseudo 1352569 RPL12P1 ribosomal protein L12 pseudogene 1 729727 NG_006554,AL021366,AL662799,BX248088 CAA16156 CICK0721Q.1|RPL12-L|dJ570F3.5 pseudo 1606374 RPL12P10 ribosomal protein L12 pseudogene 10 392872 NG_005576,AC005682,CH236948 pseudo 1352484 RPL12P2 ribosomal protein L12 pseudogene 2 387052 1343170 RPL12P3 ribosomal protein L12 pseudogene 3 128862 NG_000978,AL121901 GDB:11507636 bA49G10.7 pseudo 1351204 RPL12P4 ribosomal protein L12 pseudogene 4 116149 NG_000962,AL121593 GDB:11507638 dJ800C24.1 pseudo 1353924 RPL12P5 ribosomal protein L12 pseudogene 5 319142 NG_002518,AL513133 pseudo 1602257 RPL12P6 ribosomal protein L12 pseudogene 6 440176 XR_016704,XR_037242,XR_019130 pseudo 1344449 RPL12P7 ribosomal protein L12 pseudogene 7 326275 NG_002535,AL121820 pseudo 1347239 RPL12P8 ribosomal protein L12 pseudogene 8 645161 NG_006101,AL133551 bA57G10.3 pseudo 732066 RPL13 ribosomal protein L13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Transcript variants derived from alternative splicing and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 9582194,15189156,14567916,16786168,15635413,15489334,14702039,12477932,11997338,11790298,9114010,8722009,7821789,1301162 6137 NM_000977,NM_033251,AB007172,AC092123,CH471184,AB062392,AK025405,AK026501,AK093246,AK127579,AK130963,AK130964,AK290893,BC000851,BC004954,BC006179,BC007345,BC007563,BC007805,BC010994,BC013078,BC014167,BC020804,BC027463,BC063378,BC066320,BC093063,BC106058,CR591315,CR591773,CR594319,CR594848,CR596413,CR596850,CR597153,CR597865,CR598449,CR600363,CR600405,CR602128,CR603377,CR604073,CR605699,CR606878,CR606915,CR610213,CR611560,CR612063,CR615258,CR615603,CR617344,CR619298,CR622575,CR623155,CR624500,D28432,X64707 NP_000968,NP_150254,BAA25832,EAW66724,EAW66725,BAB93479,BAF83582,AAH04954,AAH07345,AAH07563,AAH07805,AAH10994,AAH13078,AAH14167,AAH27463,AAH63378,AAH66320,AAH93063,AAI06059,AAH20804,BAA05798,CAA45963,O60250,P26373,Q567Q8,Q6NZ55,ABM82385,ABM85562 Hs.410817 GDB:9863236 BBC1|D16S444E|FLJ27453|FLJ27454|MGC117342|MGC71373 protein-coding 1351312 RPL13A ribosomal protein L13a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative polyA signals have been observed. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in its second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 10580157,15189156,12588972,14567916,17921318,15635413,15489334,14702039,12962325,12477932,11790298,9582194,9373149,8764399,8722009,8125298,1282492 23521 BC062537,BC065236,BC070223,BC071929,BC105605,BG536330,CR591301,CR591518,CR592554,CR595200,CR596601,CR596607,CR599383,CR600846,CR601809,CR603453,CR606179,CR607352,CR607407,CR607799,CR607854,CR608676,CR612270,CR613016,CR613935,CR615101,CR616905,CR618182,CR618336,CR618372,CR619845,CR620187,CR622131,CR622347,CR622697,CR622930,CR623949,CR624659,CR625138,X56932,NM_012423,AB028893,AC010619,CH471177,AB082924,AK056837,AK130605,AK222747,AK291120,BC000514,BC000847,BC001675,BC001836,BC004900,BC013230,BC032107 AAH62537,AAH65236,AAH70223,AAH71929,AAI05606,CAA40254,P40429,Q0VGL3,Q53H34,Q5QTS3,Q8J015,Q9BSQ6,NP_036555,BAA88214,EAW52495,EAW52496,BAC16800,BAD96467,BAF83809,AAH00514,AAH01675,AAH01836,AAH04900 Hs.523185 GDB:9863269 protein-coding 1353873 RPL13AP ribosomal protein L13a pseudogene 387043 1345955 RPL13AP2 ribosomal protein L13a pseudogene 2 326278 NG_002538,AL157792 pseudo 1352859 RPL13AP4 ribosomal protein L13a pseudogene 4 378879 1343517 RPL13AP5 ribosomal protein L13a pseudogene 5 414226 1348012 RPL13AP6 ribosomal protein L13a pseudogene 6 414227 1350057 RPL13AP7 ribosomal protein L13a pseudogene 7 387490 1344645 RPL13P ribosomal protein L13 pseudogene 387044 1351579 RPL13P2 ribosomal protein L13 pseudogene 2 128500 NG_000966,AL035662 GDB:11505415 RPL13P3|dJ599F21.2 pseudo 733020 RPL14 ribosomal protein L14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 8244780,8125298,16189514,8325628,9480843,11369516,15189156,14567916,17081983,15635413,15489334,12962325,12477932,11875025,11790298,11401437,9417904,9373149,8722009,8549859 9045 BC005134,BC009294,BC016379,BC019651,BC022805,BC029036,BC071913,BG776586,CD298951,CR596236,CR596307,CR598104,CR600213,CR605270,CR605445,CR607821,CR609169,NM_003973,NM_001034996,AB046407,AB061822,AC104186,CH471055,AK222750,AK223111,AK290674,AK292045,BC000606,CR618270,CR621853,CR623795,D87735,DQ118667,L10376,U16738,U92982 AAH05134,AAH09294,AAH16379,AAH19651,AAH22805,AAH29036,AAH71913,NP_003964,NP_001030168,BAB21253,BAB79460,EAW64606,EAW64607,EAW64608,EAW64609,BAD96470,BAD96831,BAF83363,BAF84734,BAA13443,AAZ38460,AAC16021,P50914,Q45RF0,Q53G20,Q6IPH7,ABM82847,ABM86031,AAH00606 Hs.446522 GDB:9954803 CAG-ISL-7|CTG-B33|L14|MGC88594|RL14|hRL14 protein-coding 1346661 RPL14L ribosomal protein L14-like 144581 XM_056681 736821 RPL15 ribosomal protein L15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15E family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Although this gene has been referred to as RPL10, its official symbol is RPL15. This gene has been shown to be overexpressed in some esophageal tumors compared to normal matched tissues. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 9582194,15189156,14567916,16608517,15635413,15489334,12477932,11875025,11790298,11223259,9110174,8722009,1538749 6138 BC071672,BC081565,BT019672,CR589966,CR590737,CR591026,CR591486,CR592054,CR592112,CR592217,CR592595,CR593841,CR594593,CR594754,CR594869,CR595482,CR595491,CR595665,CR597435,CR598750,CR598817,CR599265,CR600211,CR601000,CR601919,CR602953,CR603506,CR603650,CR603962,CR604390,CR606381,CR607141,CR608253,CR610524,CR611105,CR611581,CR611630,CR612388,CR612565,CR612963,CR613126,CR613244,CR613287,CR613472,CR613602,CR616363,CR616635,CR616682,CR617573,CR617990,CR618040,CR618137,AB007173,AB061823,AC124914,AL355137,CH471055,AF279903,AF283772,AK098795,AK129815,AK290694,AK292000,AY347528,BC014837,BC030575,BC068198,BC070328,CR618198,NM_002948,CR618680,CR619911,CR621224,CR621355,CR621403,CR621733,CR622225,CR622675,CR622760,CR623250,CR624686,CR625846,CR626552,L25899 AAH70328,AAH71672,AAH81565,AAV38478,NP_002939,BAA25833,BAB79461,EAW64337,EAW64338,EAW64339,AAG44837,AAG15591,BAF83383,BAF84689,AAQ24859,AAH14837,AAH30575,AAH68198,AAA36583,P61313,Q5T6E0,Q5U0C0,Q642I1,Q76N55,Q8N6E1 Hs.381219,Hs.695621 GDB:9863238 EC45|FLJ26304|MGC88603|RPL10|RPLY10|RPYL10 protein-coding 1349869 RPL15P1 ribosomal protein L15 pseudogene 1 128756 NG_000975,AL160411 GDB:11507640 dJ726N1.3 pseudo 1354056 RPL15P2 ribosomal protein L15 pseudogene 2 326279 NG_002539,AL121612 pseudo 1346139 RPL15P3 ribosomal protein L15 pseudogene 3 387106 1348057 RPL15P4 ribosomal protein L15 pseudogene 4 387120 1347180 RPL17 ribosomal protein L17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. Two alternative splice variants have been observed, each encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 12761501,15189156,14567916,15635413,15489334,12962325,12477932,11875025,11790298,9582194,8722009,2402465 6139 NM_000985,NM_001035006,AB007174,AB061824,AC100778,CH471096,BC000502,BC017831,BC066323,BC066324,BC106031,BG497914,BI086293,CR592159,CR599286,CR612392,CR623627,X53777 NP_000976,NP_001030178,BAA25834,BAB79462,EAW62940,EAW62941,EAW62942,EAW62943,EAW62944,EAW62945,AAH00502,AAH17831,AAH66323,AAH66324,AAI06032,CAA37793,P18621,Q8TCD1,ABM83128,ABM86324 Hs.293653,Hs.374588,Hs.485090 GDB:128738 MGC117162|rpL23 protein-coding 1351421 RPL17L1 ribosomal protein L17-like 1, G1-phase expressed 8123253 6140 GDB:307855 1342969 RPL17P1 ribosomal protein L17 pseudogene 1 140748 NG_000991,AL049648 GDB:11507642 dJ1178H5.1 pseudo 1351309 RPL17P3 ribosomal protein L17 pseudogene 3 326286 NG_002540,AC007262 pseudo 1349566 RPL17P4 ribosomal protein L17 pseudogene 4 326288 NG_002541,AL138976 pseudo 733647 RPL18 ribosomal protein L18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 14743216,8218404,15189156,14567916,16964243,16751257,15635413,15489334,12962325,12477932,11875025,11790298,9582194,8722009,7821789,14499622 6141 NM_000979,AB061825,AC022154,CH471177,AK026558,BC000374,BC009708,BC021743,CR590122,CR591552,CR591878,CR597869,CR598496,CR600341,CR600364,CR601070,CR602585,CR608718,CR609223,CR614681,CR622915,CR623252,CR626510,D28461,DQ403032,L11566 NP_000970,BAB79463,EAW52358,EAW52359,EAW52360,EAW52361,EAW52362,EAW52363,EAW52364,AAH00374,AAH09708,AAH21743,BAA05827,ABD77165,AAA16329,Q07020,Q0QEW2,ABM82377,ABM85556 Hs.515517 GDB:252835 protein-coding 1345925 RPL18A ribosomal protein L18a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18AE family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U68 snoRNA, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 9582194,17353931,15189156,14567916,17081983,16195786,16169070,15635413,15592455,15489334,15057824,12477932,11823430,9373149,8722009,8125298,7821789,7662174,1538749 6142 AB007175,AC005796,AC007201,CH471106,AK222647,AY779046,BC007512,BC066319,BC071920,CR592115,CR594005,CR600519,CR600845,CR603612,CR606905,CR615832,CR617184,CR619120,CR619918,CR624588,D28393,NM_000980,L05093,X80822 NP_000971,BAA28596,AAC62828,EAW84641,EAW84642,BAD96367,AAX47571,AAH07512,AAH66319,AAH71920,BAA05759,AAC18781,CAA56788,Q02543,Q32XH3,Q53HD3,Q76N54 Hs.337766 GDB:9863270 protein-coding 1348264 RPL18AP1 ribosomal protein L18a pseudogene 1 326289 NG_002542,AL132838 pseudo 1351963 RPL18AP2 ribosomal protein L18a pseudogene 2 387494 1347701 RPL18P1 ribosomal protein L18 pseudogene 1 326291 NG_002543,AL512359 pseudo 734460 RPL19 ribosomal protein L19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1577483,15189156,14567916,17244347,16609016,15489334,12477932,12149109,11401437,9373149,8722009,8125298,8095182,7789970,3542997,1598220 6143 CR611881,CR615329,CR623934,CR625750,S56985,X63527,NM_000981,AC004408,CH471152,CS185559,X82201,AK130962,AK223082,AY157980,BC000530,BC013016,BC062709,BC066315,BC095445,BX537435,CR593123,CR595681,CR604774,CR607184,CR607526 AAB25672,CAA45090,P84098,Q53G49,Q8IWR8,ABM82303,NP_000972,EAW60565,EAW60566,EAW60567,EAW60568,CAJ42740,BAD96802,AAN76335,AAH00530,AAH13016,AAH62709,AAH66315,AAH95445,CAD97677 Hs.381061 GDB:128847 DKFZp779D216|FLJ27452|MGC71997 protein-coding 1352268 RPL19P1 ribosomal protein L19 pseudogene 1 140759 NG_001002,AL035460 GDB:11507644 dJ860F19.2 pseudo 68568 RPL21 ribosomal protein L21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 7772601,15189156,14567916,15635413,15489334,12962325,12690205,12477932,11875025,11773032,11751223,11401437,11181995,9582194,8722009,7951316,7821789,17353931 6144 AB007176,AB061826,AL159977,CH471075,AF086172,AK130968,BC001603,BC007505,BC019002,BC062981,BC070184,BC070323,BC070330,BC071902,NM_000982,BC104478,BC104667,BX647669,CR457032,CR602527,D28406,U14967,U25789,X89401 NP_000973,BAA25835,BAB79464,CAH73745,EAX08395,EAX08396,EAX08397,EAX08398,EAX08399,EAX08400,EAX08401,AAH01603,AAH07505,AAH62981,AAH70184,AAH70323,AAH70330,AAH71902,AAI04479,AAI04668,CAG33313,BAA05772,AAA85655,AAA93231,CAA61582,P46778,Q3SX59,Q6IAX2 Hs.381123,Hs.658152 GDB:119565 DKFZp686C06101|FLJ27458|L21|MGC104274|MGC104275|MGC71252 protein-coding 1344772 RPL21P1 ribosomal protein L21 pseudogene 1 7940018 6145 NG_000868,AC079406,X63773 GDB:392593 RPL21P pseudo 1353396 RPL21P10 ribosomal protein L21 pseudogene 10 319143 NG_002519,AC008044 pseudo 1344889 RPL21P11 ribosomal protein L21 pseudogene 11 157206 NG_002488,AL161662,AL512791 pseudo 1348194 RPL21P12 ribosomal protein L21 pseudogene 12 122409 NG_002482,AL161669 pseudo 1348658 RPL21P13 ribosomal protein L21 pseudogene 13 319144 NG_002520,AL138976 pseudo 1350064 RPL21P16 ribosomal protein L21 pseudogene 16 414240 1353492 RPL21P2 ribosomal protein L21 pseudogene 2 140715 NG_000986,AL356414 GDB:11507648 bA352D3.1 pseudo 1350158 RPL21P3 ribosomal protein L21 pseudogene 3 128760 NG_000976,AL121893 GDB:11507650 bA189K21.4 pseudo 1345186 RPL21P4 ribosomal protein L21 pseudogene 4 8938427 140660 NG_005905,NG_000980,AC135721,L78833 GDB:11507652 pseudo 1346724 RPL21P7 ribosomal protein L21 pseudogene 7 145370 NG_002487,AL359236 pseudo 1346425 RPL21P8 ribosomal protein L21 pseudogene 8 319145 NG_002521,AL355840 pseudo 1343107 RPL21P9 ribosomal protein L21 pseudogene 9 283562 NG_002491,AL049779 pseudo 733560 RPL22 ribosomal protein L22 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. 1580863 8135813,15189156,14567916,16564389,16556938,15812220,15635413,15489334,14702039,12477932,11875025,11790298,11401437,11056215,10712515,9847074,8722009,1846807 6146 AB046408,AB061849,AL031847,CH471130,AF113701,AF136171,AK097075,AL110153,BC011829,BC020237,BC032295,BC035566,BC058887,BC066314,BU927988,CA336134,CR456873,CR596718,CR596756,CR612032,CR617570,CR619731,CR624608,NM_000983,D17652,X59357 NP_000974,BAB21254,BAB79487,CAI19448,EAW71518,EAW71519,EAW71520,AAP97261,AAH32295,AAH35566,AAH58887,AAH66314,CAG33154,BAA04545,CAA42007,P35268,Q7Z4W8,Q8N5K3,Q8WYP0,Q9BYF5 Hs.515329,Hs.554762 GDB:237831 EAP|HBP15|HBP15/L22 protein-coding 1602286 RPL22L1 ribosomal protein L22-like 1 15489334,12477932,8076819 200916 BC062731,BC107708,BM451642,CA449264,NM_001099645,AC061708,CH471052,AL110170 CAI46223,AAH62731,AAI07709,Q5JWX6,Q6P5R6,NP_001093115,EAW78503 Hs.380933 MGC104449 protein-coding 1342840 RPL22P1 ribosomal protein L22 pseudogene 1 8395054,7533526 125371 GDB:11502799 1352841 RPL22P2 ribosomal protein L22 pseudogene 2 326292 NG_002544,AF111169 pseudo 1354324 RPL23 ribosomal protein L23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1874450,15189156,14567916,16189514,15592455,15489334,15314174,15314173,15308643,15149863,12477932,11875025,9582194,9114010,8722009,1861993,14743216 9349 NM_000978,AB061827,AC110749,CH471152,AK024749,BC003518,BC010114,BC034378,BC062716,BC104651,BC106061,CA437923,CR604268,CR610098,X52839,X55954 NP_000969,BAB79465,EAW60539,EAW60540,EAW60541,EAW60542,AAH03518,AAH10114,AAH34378,AAH62716,AAI04652,AAI06062,CAA37023,CAA39417,P62829,Q8N4F9,Q9BTQ7,ABM84144,ABM87546 Hs.406300 GDB:9863271 MGC111167|MGC117346|MGC72008|rpL17 protein-coding 1312599 RPL23A ribosomal protein L23a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17353931,9417910,15189156,14567916,17081983,15489334,15342556,12477932,11790298,11401437,9687515,9053844,8722009,8662070,11129635 6147 NM_000984,AC010761,AF001689,CH471159,AK130965,AW044310,BC014459,BC058041,BE464375,BE731473,BG476195,BP382007,L13799,U02032,U37230,U43701 NP_000975,AAC51934,EAW51131,EAW51132,AAH14459,AAH58041,AAA35681,AAA03341,AAB17510,AAB03210,P62750 Hs.419463 GDB:9786199 FLJ27455|MDA20 protein-coding 1343228 RPL23AP1 ribosomal protein L23a pseudogene 1 8662070 6148 NG_001027,AL022723,AL645939,AL669813,AL844851 GDB:9773287 dJ377H14.8 pseudo 1352946 RPL23AP10 ribosomal protein L23a pseudogene 10 326293 NG_002545,AL359240 pseudo 1350361 RPL23AP11 ribosomal protein L23a pseudogene 11 326294 NG_002546,AL132801 pseudo 1346230 RPL23AP12 ribosomal protein L23a pseudogene 12 387500 1604327 RPL23AP13 ribosomal protein L23a pseudogene 13 12477932 56969 NR_002229,AC092839,AL390140,BC067268,BC096706,BC096740,BC098172 AAX93105,AAH96706,AAH96740,AAH98172,Q53RC5 Hs.657366 DKFZp547I014 pseudo 1625834 RPL23AP14 ribosomal protein L23a pseudogene 14 11181995 341511 NG_006075,AC005841,CH471116 EAW88891 pseudo 1342571 RPL23AP2 ribosomal protein L23a pseudogene 2 401904 NG_006074,AD000091 GDB:9798387 pseudo 1345681 RPL23AP3 ribosomal protein L23a pseudogene 3 10830953,9740676 8489 NG_000878,AB003151,AP000688 GDB:9786191 pseudo 1353745 RPL23AP4 ribosomal protein L23a pseudogene 4 10830953 54029 NG_000910,AP001478,AP001761 GDB:10796424 pseudo 1344515 RPL23AP5 ribosomal protein L23a pseudogene 5 11157797,9054936 729480 NG_006537,AE006463,Z97634 AAK61228,Q9BR02 GDB:11507654 RPL23AL|RPL2B|c367G8.3|rjd10 pseudo 1349675 RPL23AP6 ribosomal protein L23a pseudogene 6 128709 NG_000971,AL023913 GDB:11507656 dJ1068F16.1 pseudo 1352544 RPL23AP7 ribosomal protein L23a pseudogene 7 14702039,12477932,8799457 118433 NR_000029,AL078621,AK055264,BC000596,X92108 Hs.595056,Hs.598501 GDB:11507658 RPL23AL1|bA395L14.9 pseudo 1625647 RPL23AP8 ribosomal protein L23a pseudogene 8 641614 NG_006076,AL355885 pseudo 1602988 RPL23AP9 ribosomal protein L23a pseudogene 9 122585 XR_017424,XR_019430 Hs.647560 pseudo 1352398 RPL23P2 ribosomal protein L23 pseudogene 2 10830953 54028 NG_000909,AF129075,AL163249 GDB:10796426 pseudo 731426 RPL24 ribosomal protein L24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24E family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as ribosomal protein L30 because the encoded protein shares amino acid identity with the L30 ribosomal proteins from S. cerevisiae; however, its official name is ribosomal protein L24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 9582194,15231747,17220478,17353931,15189156,14567916,17081983,15489334,12962325,12477932,11875025,11401437,8722009,8428672,8012384,7821789,14743216 6152 NM_000986,AB007177,AB061828,AC084198,CH471052,Z64316,BC000690,BC070193,BU754101,CD513036,CR456729,CR622107,D28400,M94314 AAC28251,P83731,Q5T8W0,ABM83547,ABM86787,NP_000977,BAA25836,BAB79466,EAW79780,EAW79781,EAW79782,EAW79783,EAW79784,AAH00690,AAH70193,CAG33010,BAA05766 Hs.477028,Hs.649475 GDB:9863240 protein-coding 1350491 RPL24P1 ribosomal protein L24 pseudogene 1 140757 NG_001000,AL049539 GDB:11507662 dJ836N17.3 pseudo 1346982 RPL24P2 ribosomal protein L24 pseudogene 2 140760 NG_001003,AL121759 GDB:11507664 dJ872K7.2 pseudo 1345776 RPL24P3 ribosomal protein L24 pseudogene 3 145235 NG_002525,AL133445 pseudo 1606095 RPL24P4 ribosomal protein L24 pseudogene 4 377381 NG_003160,AL158815 CAI19461 dJ125M3.1 pseudo 1343578 RPL25P1 ribosomal protein L25 pseudogene 1 3459254 6153 GDB:119566 1321610 RPL26 ribosomal protein L26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8479925,17353931,15189156,14567916,15489334,12477932,11875025,11790298,11401437,9582194,8722009 6154 NM_000987,AB061829,AC135178,CH471108,L07287,BC066316,BC071664,BI091167,BM928617,CR456828,CR598792,CR614577,CR625206 NP_000978,BAB79467,EAW90053,EAW90054,EAW90057,AAA60279,AAH71664,CAG33109,P61254,Q6IBH6,Q6NZ56 Hs.482144,Hs.694762,Hs.696165 GDB:139216 protein-coding 1352940 RPL26L1 ribosomal protein L26-like 1 This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. Transcript variants utilizing alternative polyA signals exist. 1580863 15189156,14567916,15635413,15489334,12477932,11042152 51121 NM_016093,AC008429,CH471062,AF083248,AK128872,BC009766,BC017360,BC070192 NP_057177,EAW61420,EAW61421,AAD39846,AAH17360,AAH70192,Q9UNX3,ABM83543,ABM86783 Hs.546390 GDB:11503500 FLJ46904|RPL26P1 protein-coding 1346437 RPL26P2 ribosomal protein L26 pseudogene 2 326297 NG_002549,AL160314 pseudo 1348289 RPL26P3 ribosomal protein L26 pseudogene 3 326298 NG_002550,AL133162 pseudo 1351741 RPL26P4 ribosomal protein L26 pseudogene 4 283603 NG_002527,AL355032 pseudo 2291776 RPL26P6 ribosomal protein L26 pseudogene 6 100131526 XR_038843,XR_038945,XR_038748 pseudo 735597 RPL27 ribosomal protein L27 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L27E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8148381,15189156,14567916,15635413,15489334,14702039,12477932,11875025,11790298,11401437,8722009,7581362,7545954,1302024 6155 NM_000988,AB061851,AC055866,CH471152,AK124148,AV712491,BC001700,BC002588,BC007273,BC010026,BC021886,BC098560,CR613829,CR619555,L05094,L19527,L25346 NP_000979,BAB79492,EAW60909,EAW60910,EAW60911,EAW60912,EAW60913,AAH01700,AAH02588,AAH07273,AAH10026,AAH21886,AAH98560,AAC15857,AAA19815,P61353,Q8WTY3,ABM83489,ABM86705,Q6LCU2 Hs.514196,Hs.697561 GDB:278009 protein-coding 1320286 RPL27A ribosomal protein L27a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. 1580863 7772601,15189156,14567916,15489334,14702039,12477932,11790298,11751223,10449908,9582194,8722009 6157 NM_000990,AB007178,AB020236,AC091053,AJ400879,CH471064,AI809856,AK125453,BC004284,BC005326,BC014919,BC020169,BC066326,BG687024,BQ058236,CR593772,CR622779,U14968 NP_000981,BAA25837,BAA77361,CAC35388,EAW68619,AAH05326,AAH14919,AAH20169,AAH66326,AAA85656,P46776,Q6NZ52,Q96C21,Q9BQQ5 Hs.523463 GDB:6282448 FLJ43464|MGC10850|MGC17878|MGC87238 protein-coding 1347451 RPL27AP ribosomal protein L27a pseudogene 128481 NG_000965,AL121886 GDB:11507668 dJ1028D15.2 pseudo 1352125 RPL27P1 ribosomal protein L27 pseudogene 1 326299 NG_002551,AC000004,AL049830 pseudo 733961 RPL28 ribosomal protein L28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 7772601,17353931,15189156,14567916,15635413,15489334,15231748,15121898,14702039,12962325,12704204,12477932,11751223,9582194,8722009,7821789,4022011,16189514 6158 AB007179,AC020922,CH471135,AB209627,AK025866,AK096870,AK125297,BC010173,BC010182,BC011582,BC015398,CR457024,CR598142,CR601094,NM_000991,CR606244,CR609404,CR611766,CR615310,D28451,U14969 NP_000982,BAA25838,EAW72374,EAW72375,EAW72376,BAD92864,AAH10173,AAH10182,AAH11582,CAG33305,BAA05817,AAA85657,O60251,P46779,Q59F34,ABM83969,ABM87286 Hs.652114 GDB:6282615 FLJ43307 protein-coding 1351908 RPL28P1 ribosomal protein L28 pseudogene 1 445342 737093 RPL29 ribosomal protein L29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 8597591,8662616,17353931,15189156,14567916,17620340,16475173,16169070,15721314,15635413,15489334,12962325,12659638,12477932,11803571,11401437,10833435,10353821,9403071,9371517,8722009,8662617,6468376 6159 NM_000992,AC115284,CH471055,AK289538,BC008926,BC018943,BC070190,BC070481,BC071663,BC071909,CR590726,CR592805,CR605827,U10248,U49083,Z49148 NP_000983,EAW65182,EAW65183,BAF82227,AAH08926,AAH70190,AAH70481,AAH71663,AAH71909,AAC50499,AAC50647,CAA89008,P47914,Q6IPI1,ABM84153 Hs.425125 GDB:5563545 HIP|HUMRPL29|MGC88589 protein-coding 1353029 RPL29P1 ribosomal protein L29 pseudogene 1 134756 NG_003155,AL390026 dJ336K20B.2 pseudo 1348877 RPL29P2 ribosomal protein L29 pseudogene 2 118432 NR_002778,AC087388,AF085886 Hs.658086 GDB:11507670 pseudo 1343829 RPL29P4 ribosomal protein L29 pseudogene 4 387101 NG_006976,AL450405 CAI16223,Q5T1D1 RPL29P3|bA632C17A.1 pseudo 1345939 RPL3 ribosomal protein L3 Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 7576925,1538749,14743216,2891103,17220478,17353931,15189156,14567916,16364039,15635413,15592455,15489334,15461802,14702039,12962325,12477932,11790298,11401437,10684968,10591208,9582194,8921388,8722009,8076819 6122 NM_001033853,AB007166,AJ238852,AL022326,CH471095,AB062291,NM_000967,AK092695,AY320405,BC002408,BC004323,BC006483,BC008003,BC008492,BC012146,BC012786,BC013674,BC013861,BC014017,AL832757,BC015032,BC015767,BC022790,BC033296,BC036582,BC063662,BC071666,BC088373,BC107711,BC127794,BU584440,CR456566,CR590654,CR590820,CR592120,CR594097,CR595102,CR595116,CR595509,CR595969,CR596329,CR596389,CR596667,CR596802,CR597097,CR597485,CR597498,CR597737,CR597745,CR599095,CR601189,CR601581,CR601663,CR602004,CR604030,CR605015,CR605080,CR605531,CR607164,CR607725,CR608723,CR608886,CR609557,CR610441,CR612126,CR612782,CR612896,CR613925,CR615390,CR615684,CR616722,CR616770,CR617147,CR617467,CR619057,CR619471,CR619632,CR619715,CR619779,CR620145,CR621177,CR621265,CR621566,CR622788,CR623564,CR623791,CR624992,CR625263,CR625393,CR625496,CR625577,CR626261,CR626451,CR626505,L22453,M90054,X73460 NP_000958,NP_001029025,BAA25828,CAB76201,CAA18450,EAW60310,EAW60311,EAW60312,EAW60313,EAW60314,EAW60315,EAW60316,EAW60317,EAW60318,EAW60319,EAW60320,BAB93474,AAP73807,AAH02408,AAH04323,AAH06483,AAH08003,AAH08492,AAH12146,AAH12786,AAH13674,AAH14017,AAH15032,AAH15767,AAH22790,AAH36582,AAH63662,AAH88373,AAI07712,CAG30452,AAA91344,AAA60291,CAA51839,P39023,Q49AJ9,Q7Z5Z5,Q8TBW1,Q96QL0,Q9BT63,Q9NY85,CAK54597,CAK54896 Hs.119598 GDB:118866 MGC104284|TARBP-B protein-coding 731558 RPL30 ribosomal protein L30 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1577483,15189156,14567916,16968546,16964243,15489334,14743216,12477932,11875025,9582194,8722009,7821789 6156 NM_000989,AB070559,AP003352,CH471060,AL049968,BC032700,BC095426,CR594202,D28438,L05095,X79238 NP_000980,BAB79491,EAW91769,EAW91770,EAW91771,AAH32700,AAH95426,BAA05804,AAC15858,CAA55820,P62888 Hs.400295 GDB:128848 protein-coding 1349992 RPL30BP ribosomal protein L30B pseudogene 387045 734080 RPL31 ribosomal protein L31 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 2780320,17353931,15189156,14567916,17081983,16344560,16189514,15815621,15592455,15489334,15146197,12962325,12477932,11875025,11790298,9582194,8889548,8722009,7821789,2597680,11746496 6160 NM_001099693,NM_000993,AB007180,AB061830,AC016738,CH471127,BC001663,BC017343,BC070210,BC070373,NM_001098577,BE564858,BG031488,BG223187,CD108396,CD247800,CF124259,CN269912,CN269915,CR600452,CR622056,D28386,DA869102,X15940,X69181 NP_001092047,NP_001093163,NP_000984,BAA25839,BAB79468,AAY14823,EAX01826,EAX01827,EAX01828,EAX01829,AAH17343,AAH70210,AAH70373,BAA05752,CAA34066,CAA48925,P62899,Q6IRZ0,Q76N53,ABM83535,ABM86775 Hs.469473 GDB:118867 MGC88191 protein-coding 1347165 RPL31P1 ribosomal protein L31 pseudogene 1 10830953 54027 NG_000908,AP001050,AP001751 GDB:10796428 RPL31P pseudo 1603146 RPL31P10 ribosomal protein L31 pseudogene 10 390283 XR_017521,XR_018695,XR_037323 pseudo 1345226 RPL31P2 ribosomal protein L31 pseudogene 2 140753 NG_000996,AL050349 GDB:11507674 dJ553F4.5 pseudo 1353886 RPL31P3 ribosomal protein L31 pseudogene 3 140718 NG_000989,AL031650 GDB:11507676 dJ1018D12.4 pseudo 1602626 RPL31P4 ribosomal protein L31 pseudogene 4 387991 XR_018222 Hs.638676 pseudo 1347993 RPL31P8 ribosomal protein L31 pseudogene 8 253013 NG_005654,AC109486 pseudo 1347014 RPL32 ribosomal protein L32 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. 17353931,15189156,14567916,17054774,15498874,15489334,12962325,7821789,3866218,8012384,14743216,12477932,11875025,10737800,9582194,9284913,8889548,8722009 6161 CH471055,Z56502,AK124029,BC011514,BC070209,BF960792,BQ068496,CA436299,CF124158,CR591453,CR596681,CR596797,CR596982,CR600427,CR600919,CR604700,CR605770,CR608027,CR614770,CR616653,CR620958,CR625712,D28385,X03342,NM_001007073,NM_000994,NM_001007074,AB061831,AC034198 EAW64144,EAW64145,AAH11514,AAH70209,BAA05751,CAA27048,P62910,ABM82499,ABM85693,NP_001007074,NP_000985,NP_001007075,BAB79469 Hs.265174 GDB:119567 PP9932 protein-coding 1344513 RPL32L ribosomal protein L32-like 6162 GDB:119568 1345579 RPL32L2 ribosomal protein L32-like 2 10591208 23754 NG_002456,AC005300 GDB:9979447 pseudo 1349837 RPL32P1 ribosomal protein L32 pseudogene 1 6088068,3866218,2987832 6163 NG_000869,AL645931,AL662824,AL805913,K03014,X02228 GDB:119569 RPL32-L|RPL32P pseudo 1604531 RPL32P3 ribosomal protein L32 pseudogene 3 14702039,12477932 132241 NR_003111,AC137695,AL117606,AL449212,CS300717,AK093477,AK096589,BC014110,BC015389,BC042157,BC053996,BX641154 CAK32381,AAH15389,AAH53996,Q7Z5V5,Q96BP1 Hs.477537,Hs.652423 pseudo 1319729 RPL34 ribosomal protein L34 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Transcript variants derived from alternative splicing, alternative transcription initiation sites, and/or alternative polyadenylation exist; these variants encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 7490091,17353931,15189156,14567916,15635413,15489334,14702039,12962325,12477932,11875025,9582194,8889548,8722009,7821789 6164 NM_000995,NM_033625,AB007181,AB061832,AC084209,AC107071,CH471057,CS185554,AF147334,AK055920,AY762981,BC001773,BC070208,BC106009,BM971961,BU588998,CR542232,CR542242,CR592421,D28420,L38941 NP_000986,NP_296374,BAA25840,BAB79470,EAX06229,EAX06230,EAX06231,EAX06232,CAJ42735,AAV88043,AAH01773,AAH70208,AAI06010,CAG47028,CAG47038,BAA05786,AAC41916,P49207,Q5MK14,ABM83428,ABM86641 Hs.438227 GDB:9863242 MGC111005 protein-coding 1349591 RPL34P1 ribosomal protein L34 pseudogene 1 26514 NG_000895,AL021397 GDB:10795842 dJ69E11.2 pseudo 1352830 RPL34P2 ribosomal protein L34 pseudogene 2 26513 NG_000894,AL049714 GDB:10795844 pseudo 1343494 RPL34P3 ribosomal protein L34 pseudogene 3 10830953 54026 NG_000907,AF051934 GDB:10796430 pseudo 1353068 RPL35 ribosomal protein L35 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 2891103,17353931,15189156,14567916,16341674,15635413,15489334,15164053,12962325,12477932,11401437,8722009,8076819,7821789,14743216 11224 NM_007209,AB046409,AL354928,CH471090,AK291072,BC000348,BC010919,BC071915,BC094828,BM854016,CR456877,CR996819,D17026,D17195,D28448,U12465 NP_009140,BAB21255,CAI39638,CAI39639,EAW87600,EAW87601,EAW87602,BAF83761,AAH00348,AAH10919,AAH71915,AAH94828,CAG33158,BAA05814,AAA51648,P42766,Q5JTN3,ABM82289,ABM85469 Hs.182825 GDB:9957459 protein-coding 733438 RPL35A ribosomal protein L35a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Transcript variants utilizing alternative transcription initiation sites and alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 17353931,15189156,14567916,15635413,15489334,12704204,12477932,12175552,11875025,10880769,9582194,8786106,8722009,7821789,2388839,1577483 6165 NM_000996,AB007182,AC135893,CH471252,X94619,AB055768,AK026542,AY871273,BC001037,BC010949,BC017093,BC061890,CR621442,X52966 NP_000987,BAA25841,EAW92248,EAW92249,EAW92250,CAA64325,BAB62862,AAX11429,AAH01037,AAH10949,AAH17093,AAH61890,CAA37138,P18077,Q08ES9 Hs.529631 GDB:128849 protein-coding 1349107 RPL35AP ribosomal protein L35a pseudogene 140716 NG_000987,AL353777 GDB:11507680 bA456N23.1 pseudo 1606049 RPL35AP2 ribosomal protein L35a pseudogene 2 652983 NG_005490,AL353662 bA571F15.2 pseudo 1343108 RPL35AP3 ribosomal protein L35a pseudogene 3 387074 736673 RPL36 ribosomal protein L36 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17353931,15189156,14567916,11256614,16381901,16341674,16169070,15635413,15489336,15489334,12962325,12477932,11875025,11401437,11230166,11076863,11042152,8722009 25873 NM_033643,NM_015414,AB046410,AB061833,AC011499,CH471139,AF077043,AL050273,BC003052,BC004971,BC091508,BM015858,BM841746,CR533465,CR613397,CR616362 NP_378669,NP_056229,BAB21256,BAB79471,EAW69155,EAW69158,AAD27776,CAB43374,AAH03052,AAH04971,AAH91508,CAG38496,Q9BYF3,Q9Y3U8,CAL38051,CAL38621,ABM83022,ABM86215 Hs.408018 GDB:10796993 DKFZP566B023 protein-coding 1315369 RPL36A ribosomal protein L36a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. Although this gene has been referred to as ribosomal protein L44 (RPL44), its official name is ribosomal protein L36a (RPL36A). This gene and the human gene officially named ribosomal protein L36a-like (RPL36AL) encode nearly identical proteins; however, they are distinct genes. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17353931,15189156,14567916,3542712,15772651,15489334,14752831,14702039,12477932,11401437,10409428,9110171,8722009,8012384,7959728,7821789,7626884 6173 NM_021029,AL035422,CH471115,U78027,Z55036,Z57591,AK096711,BC001781,BC031015,BC062219,BC070204,BF211310,BG504049,BG943625,CR542198,CR611948,CR612724,CR617894,D28414 NP_066357,CAI42360,EAX02859,EAX02860,EAX02861,AAB64204,AAH01781,AAH31015,AAH62219,AAH70204,CAG46995,BAA05780,P83881,Q08ES5 Hs.432485 GDB:128850 L44L|MGC72020|MIG6|RPL44 protein-coding 733562 RPL36AL ribosomal protein L36a-like Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 15489334,12490704,12477932,8722009,3542712,3396452,1577483 6166 NM_001001,AL139099,CH471078,AB063609,BC000741,BC003145,BC070207,BC107716,CR542166,M15661 NP_000992,EAW65760,BAC19836,AAH00741,AAH03145,AAH70207,AAI07717,CAG46963,AAA36589,Q969Q0 Hs.444749 GDB:11502808 MGC111574|RPL36A protein-coding 1343028 RPL36AP2 ribosomal protein L36a pseudogene 2 326301 NG_002553,AL355076 pseudo 1346177 RPL36AP3 ribosomal protein L36a pseudogene 3 9847074 326303 NG_002555,AC007160 pseudo 1349669 RPL36AP4 ribosomal protein L36a pseudogene 4 326304 NG_002556,AC005924,AL132838 pseudo 1352436 RPL36AP5 ribosomal protein L36a pseudogene 5 387090 XM_167064 1345831 RPL36P1 ribosomal protein L36 pseudogene 1 140697 NG_000983,AL121902 GDB:11507682 bA80K6.3 pseudo 1350263 RPL36P2 ribosomal protein L36 pseudogene 2 140751 NG_000994,AL133230 GDB:11507684 dJ530I15.5 pseudo 1347593 RPL36P4 ribosomal protein L36 pseudogene 4 140750 NG_000993,AL121586 GDB:11507686 dJ477O4.3 pseudo 731374 RPL37 ribosomal protein L37 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 7545944,15189156,14567916,15489334,15485924,12477932,11875025,11401437,9582194,8722009,7588717,17353931 6167 NM_000997,AB007183,AB007184,AB061834,AC008810,CH471119,AB055770,BC067790,BC079477,BC084576,BU954721,BX647123,CR456890,CR613871,CR621468,D23661,L11567 NP_000988,BAA25842,BAA25843,BAB79472,EAW56002,EAW56003,EAW56004,EAW56005,BAB62864,AAH79477,AAH84576,CAG33171,BAA04888,AAA62148,P61927,Q6NW06 Hs.80545,Hs.558601 GDB:385430 DKFZp686G1699|MGC99572 protein-coding 1317728 RPL37A ribosomal protein L37a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17353931,15489334,12962325,12477932,11401437,8722009,8224875,7821789,1437567 6168 NM_000998,AC073321,CH471063,AK289472,AK291857,BC000555,BC014262,BC016748,BC039030,BC047872,BC063476,BC067789,BC082239,CD249666,CR542152,CR613913,CR618026,D28355,L06499,L22154,X66699 NP_000989,AAY15078,EAW70569,EAW70570,EAW70571,BAF82161,BAF84546,AAH00555,AAH14262,AAH16748,AAH63476,AAH67789,AAH82239,CAG46949,BAA05721,AAA60280,CAA47244,P61513,Q6FGF5,Q6P4E4 Hs.433701 GDB:136212 MGC74786 protein-coding 1345901 RPL37AP1 ribosomal protein L37a pseudogene 1 140717 NG_000988,AL132772 GDB:11507688 dJ1013A22.4 pseudo 1347650 RPL37P1 ribosomal protein L37 pseudogene 1 140696 NG_000982,AL389875 GDB:11507690 bA563A22B.2 pseudo 1351046 RPL37P2 ribosomal protein L37 pseudogene 2 116730 NG_001301,AP003385,U56856 GDB:11507692 PSANK1 pseudo 1348663 RPL37P3 ribosomal protein L37 pseudogene 3 10830953 378818 AP001671,NG_005972,AP000745 RL37P pseudo 1346315 RPL37P4 ribosomal protein L37 pseudogene 4 10830953 378819 NG_005973,AP000403,AP001676 RL37P2 pseudo 1605743 RPL37P5 ribosomal protein L37 pseudogene 5 654369 NG_005974,AL049874 pseudo 1603842 RPL37P6 ribosomal protein L37 pseudogene 6 346950 NG_005971,AC013644 pseudo 1313682 RPL38 ribosomal protein L38 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. 9375793,17353931,15189156,14567916,16730941,15489334,12477932,11875025,11401437,9582194,8722009,14743216 6169 NM_000999,NM_001035258,AB007185,AC100786,CH471099,AB055771,BC000603,BQ276548,BU532782,CB124619,CB128529,Z26876 NP_000990,NP_001030335,BAA25844,EAW89137,EAW89138,EAW89139,EAW89140,BAB62865,AAH00603,CAA81488,P63173 Hs.380953 GDB:9863245 protein-coding 1345580 RPL38P1 ribosomal protein L38 pseudogene 1 9375793,8185574,8166699 116809 NG_000963,AC024897,AF245699,S70431,U07144 GDB:11507694 pseudo 735612 RPL39 ribosomal protein L39 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8764829,15189156,14567916,15489334,12477932,11875025,11401437,8908372,8722009,7821789 6170 D28397,D79205,U57846,NM_001000,AB046411,AB061835,AC005052,CH471161,BC001019,BC070205 BAA05763,BAA11465,AAB02265,P62891,ABM82814,ABM86000,NP_000991,BAB21257,BAB79473,EAW89847,EAW89848,EAW89849,AAH01019,AAH70205 Hs.300141,Hs.558387 GDB:5583945 protein-coding 1347635 RPL39L ribosomal protein L39-like This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as 'ribosomal protein L39' in the public databases, its official name is 'ribosomal protein L39-like'. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. 1580863 12490704,15489334,12477932,12359333 116832 NM_052969,AB063607,AC007488,CH471052,AB063610,AF548529,BC012328,CR603001,L05096 NP_443201,BAC19834,EAW78156,BAC19837,AAN52397,AAH12328,AAC15859,Q96EH5 Hs.647900 GDB:11507696 RPL39L1 protein-coding 1342999 RPL39P ribosomal protein L39 pseudogene 140719 NG_000990,AL121914 GDB:11505420 dJ1167H4.5 pseudo 1344131 RPL39P2 ribosomal protein L39 pseudogene 2 326306 NG_002558,AL049829 pseudo 1352723 RPL39P3 ribosomal protein L39 pseudogene 3 11181995,9847074 285785 NG_003156,AC019205,CH471051 EAW48771 pseudo 1314865 RPL3L ribosomal protein L3-like This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. 1580863 8921388,15189156,14567916,15489334,12477932,11157797,8828041 6123 NM_005061,AC005363,AE006640,CH471112,BC050413,U65581 NP_005052,AAK61301,EAW85599,AAH50413,AAC50777,Q92901 Hs.657266 GDB:4425790 protein-coding 1344273 RPL3P1 ribosomal protein L3 pseudogene 1 10830953,9740676 8488 NG_000877,AP000689,AP001725 GDB:9786190 RPL3P pseudo 1352938 RPL3P2 ribosomal protein L3 pseudogene 2 9177776 116935 NG_001302,AL662833,AL845443,D83770 GDB:11507698 RPL3-Hom pseudo 1345719 RPL3P4 ribosomal protein L3 pseudogene 4 326307 NG_002559,AL162151 pseudo 732803 RPL4 ribosomal protein L4 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 8268230,14667819,17220478,15189156,14567916,15635413,15489334,14743216,12477932,11875025,11823430,11790298,11401437,10964612,9582194,9373149,8722009,8125298,7575549,16189514 6124 NM_000968,AB007167,AB061820,AC116913,CH471082,AB208977,AK125772,AK130784,AK223057,AK291117,AK291859,BC001365,BC005817,BC007748,BC007996,BC009888,BC010151,BC011664,BC014653,BC018840,BC030000,BC040610,BC066925,BC095427,CR590024,CR590199,CR590389,CR590785,CR591571,CR592509,CR592711,CR592894,CR592916,CR593403,CR593486,CR593700,CR593926,CR594115,CR594668,CR596506,CR596594,CR596867,CR597698,CR598274,CR598321,CR598597,CR598782,CR598818,CR599223,CR600001,CR600252,CR600520,CR600624,CR600936,CR603167,CR603701,CR603778,CR603779,CR603827,CR604273,CR604370,CR604722,CR605435,CR605656,CR606421,CR606932,CR607454,CR607843,CR608556,CR608966,CR609054,CR609391,CR609569,CR611716,CR611824,CR611893,CR612284,CR612355,CR612494,CR612622,CR613835,CR615143,CR615206,CR615366,CR615743,CR615745,CR616839,CR617069,CR617258,CR617296,CR618330,CR618503,CR619311,CR619644,CR619736,CR619787,CR619821,CR619963,CR621229,CR621294,CR621297,CR622536,CR623015,CR623016,CR623277,CR624000,CR624303,CR624474,CR624900,CR625092,CR626053,CR626450,CR626518,CR626519,CR626593,D23660,L20868,X73974 NP_000959,BAB79458,EAW77773,EAW77774,EAW77775,EAW77776,BAD92214,BAD96777,BAF83806,BAF84548,AAH01365,AAH05817,AAH07748,AAH07996,AAH09888,AAH10151,AAH14653,AAH66925,AAH95427,BAA04887,AAA60281,CAA52154,P36578,Q53G74,Q59GY2,ABM83115,ABM86309 Hs.186350,Hs.644628 GDB:304619 protein-coding 736920 RPL41 ribosomal protein L41 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 11780052,11710515,11401437,9891856,9582194,9299532,8722009,7821789,1326959,15189156,14567916,15489334,12477932 6171 NM_021104,NM_001035267,AB007186,AB010874,AC034102,CH471054,AF026844,BC014383,BC015984,BC017820,BC032611,BC062462,BC064907,BC066328,BC070252,BC070253,BC070254,BC070255,BC070483,BC082759,BC105279,BC105286,BC105296,BC105794,BC105795,BC105799,BC142666,BC142726,BF673574,CR599786,CR605341,CR609127,D28462,Z12962 NP_066927,NP_001030344,BAA28285,BAA31508,EAW96886,EAW96887,AAB82715,BAA05828,CAA78306,P62945,Q76N52,AAI56366,AAI57113 Hs.112553,Hs.356799,Hs.632703,Hs.653904,Hs.658436,Hs.658437,Hs.660053 GDB:135475 protein-coding 1351074 RPL41L ribosomal protein L41-like 8332507 6172 S64030 Hs.632703 GDB:215595 protein-coding 1354165 RPL41P1 ribosomal protein L41, pseudogene 1 22971 NG_000891,AL035562 GDB:9957801 RPL41L2|dJ1065O2.1 pseudo 1342766 RPL41P2 ribosomal protein L41, pseudogene 2 22970 NG_000890,AC004583,AC091304 GDB:9957800 pseudo 1354262 RPL41P3 ribosomal protein L41, pseudogene 3 22969 NG_000889,AL079295 GDB:9957792 pseudo 1342751 RPL41P4 ribosomal protein L41 pseudogene 4 9847074 326308 NG_002560,AC005480 pseudo 731697 RPL5 ribosomal protein L5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 9465063,12054647,7772601,15189156,14567916,17242401,17116689,16710414,15635413,15469983,15308643,15231747,14743126,14702039,14667819,14612427,12962325,12477932,11875025,11824785,11790298,11751223,11710515,11410658,10766838,10491318,9738462,9687515,9582194,9373149,9042965,8806611,8722009,8626719,8125298,8049265,7937132,7935455,7649987,3279045,1712897,16189514 6125 AB061848,AL162740,CH471097,AB055762,AB208980,AF113210,AK092963,AK095815,AK222604,BC001882,BC012937,BC109370,BC132970,BC132972,BG756697,BU941919,CR590151,CR590909,CR591229,CR591370,CR593452,CR594149,CR596877,CR599381,CR600028,CR600715,CR609940,CR610032,CR611283,CR612523,CR615053,CR618387,CR623308,CR623632,CR624988,CR625679,U14966,U66589,U76609,NM_000969 NP_000960,BAB79486,CAI22505,CAI22506,EAW73087,EAW73088,EAW73089,BAB62856,BAD92217,AAG39281,BAD96324,AAH01882,AAI09371,AAI32971,AAI32973,AAA85654,AAB18361,P46777,Q32LZ3,Q59GX9,Q5T7N0,Q8WYP1,Q9BUV4 Hs.180946,Hs.532359 GDB:434453 MGC117339|MSTP030 protein-coding 1342859 RPL5P1 ribosomal protein L5 pseudogene 1 6127 GDB:4627419 1353947 RPL5P2 ribosomal protein L5 pseudogene 2 140749 NG_000992,AL031663 GDB:11507700 dJ461P17.5 pseudo 733694 RPL6 ribosomal protein L6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6E family of ribosomal proteins. It is located in the cytoplasm. The protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and it has been suggested that the protein may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 9582194,9529352,8457378,8479925,15189156,14567916,15635413,15489334,15121898,14743216,12962325,12678981,12477932,11823430,11790298,11401437,11043511,10944468,9826564,8722009,8185817,7821789,7251593,6468376 6128 NM_001024662,NM_000970,AB042820,AC004086,CH471054,AF261087,AY320410,CR608788,CR610164,CR610998,CR612863,CR618245,CR622401,CR623025,CR624575,CR625620,CR626334,D17554,D28388,S71022,X69391,BC004138,BC013863,BC020679,BC022444,BC031009,BC032299,BC070195,BC071912,BC104824,BC104826,BU940020,CR595147,CR595727,CR599701,CR603976,CR605132,CR605343,CR605631 NP_001019833,NP_000961,BAB17292,EAW98004,EAW98005,EAW98006,EAW98007,EAW98008,EAW98009,EAW98010,AAF99680,BAA04491,BAA05754,AAB30819,CAA49188,Q02878,Q7Z5Z2,Q8N5Z7,Q8TBK5,Q9HBB3,AAH04138,AAH20679,AAH22444,AAH31009,AAH32299,AAH71912,AAI04825,AAI04827,AAP73810 Hs.528668,Hs.546283 GDB:139231 SHUJUN-2|TAXREB107|TXREB1 protein-coding 1350931 RPL7 ribosomal protein L7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 8441630,8360149,15189156,14567916,17258209,16797011,15635413,15592455,15489334,12962325,12704204,12477932,12401809,11790298,9582194,9373149,9268371,8722009,8125298,7862521,7750987 6129 NM_000971,AC111149,CH471068,L16557,AK225246,AK225254,AK291119,BC006095,BC008850,BC009599,BC071671,BC071894,BC071895,BC087837,CR456773,CR621016,CR621519,L16558,X52967,X57958,X57959 NP_000962,EAW86999,EAW87000,BAF83808,AAH06095,AAH08850,AAH09599,AAH71671,AAH71894,AAH71895,AAH87837,CAG33054,AAA03081,CAA37139,CAA41026,CAA41027,P18124,Q3KQU0 Hs.421257,Hs.571841 GDB:9863267 MGC117326|humL7-1 protein-coding 1316865 RPL7A ribosomal protein L7a Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8360149,15189156,14567916,10848616,15635413,15489334,15361074,15303970,12543931,12477932,11790298,11759826,11401437,9703018,9582194,9373149,9030593,8800442,8764399,8722009,8499913,8482538,8125298,7651828,7568167,2966065,2403926,1756182,1696715,1630908 6130 NM_000972,NG_000837,NR_002447,NR_000017,NR_002448,NR_000016,AC002107,AJ003040,AL158826,CH471090,X52138,X61923,AB056665,AK222534,AK291123,BC005128,BC020989,BC021052,BC021979,BC023594,BC023624,BC032533,BC071900,BC071901,BC073802,BC105290,BX641050,CR590295,CR590883,CR592304,CR592716,CR593208,CR593347,CR594094,CR596222,CR598739,CR599403,CR600454,CR601499,CR601819,CR602650,CR605232,CR605545,CR607087,CR608089,CR608873,CR608942,CR609256,CR611037,CR611385,CR612394,CR612749,CR616252,CR617703,CR618005,CR618555,CR618604,CR619456,CR620003,CR620132,CR621543,CR622399,CR623324,CR624123,CR624133,CR625438,CR626332,CR626449,M36072,X06705 NP_000963,CAI12832,CAI12833,CAI12834,EAW88061,EAW88062,EAW88063,EAW88064,EAW88065,EAW88066,CAA36383,CAA43925,BAB39381,BAF83812,AAH05128,AAH21979,AAH23594,AAH23624,AAH71900,AAH71901,AAH73802,AAI05291,AAA60282,CAA29889,P62424,Q53HP6,Q5T8U2,Q5T8U4,Q9BY74,ABM83624,ABM86866 Hs.499839 GDB:120355 SURF3|TRUP protein-coding 1343812 RPL7AL1 ribosomal protein L7A-like 1, G1-phase expressed 8123253 6131 GDB:307852 1346415 RPL7AL2 ribosomal protein L7a-like 2 128668 NG_000969,AL121916 GDB:11507702 dJ189G13.1 pseudo 1353108 RPL7AL3 ribosomal protein L7a-like 3 128748 NG_000974,AL135938 GDB:11507704 dJ348M17.1 pseudo 1343860 RPL7AL4 ribosomal protein L7a-like 4 140756 NG_000999,AL133293 GDB:11507706 dJ823N20.2 pseudo 1606440 RPL7AP10 ribosomal protein L7a pseudogene 10 8482538 161406 NG_001317,AJ224082 RPL7AP3|rpL7a pseudo 1349617 RPL7AP5 ribosomal protein L7a pseudogene 5 326309 NG_002561,AL122013 pseudo 1352270 RPL7AP6 ribosomal protein L7a pseudogene 6 326310 NG_002562,AL157789 pseudo 1351099 RPL7AP7 ribosomal protein L7a pseudogene 7 10557312 353013 NG_002738,AL645939,BA000025 RPL7B|dJ377H14.2 pseudo 1353827 RPL7AP8 ribosomal protein L7a pseudogene 8 340749 NG_005665,AC067750 bA141D8.1 pseudo 1606692 RPL7AP9 ribosomal protein L7a pseudogene 9 8482538 161322 NG_001316,AJ224081 rpL7a pseudo 1352288 RPL7L1 ribosomal protein L7-like 1 17353931,15489334,14702039,14574404,12477932 285855 NM_198486,AL035587,CH471081,AK021904,BC036861,BC058020,BC064519,BC073890,CR595869,CR601324 NP_940888,CAI21486,EAX04104,EAX04105,EAX04106,AAH58020,AAH73890,Q6DKI1 Hs.520133 MGC62004|dJ475N16.4 protein-coding 1347681 RPL7P ribosomal protein L7 pseudogene 8001978 6174 NG_001193,AC011382,X72686,X72687 GDB:277889 RPL17P pseudo 1348758 RPL7P2 ribosomal protein L7 pseudogene 2 140695 NG_000981,AL359916 GDB:11507708 bA550O8.1 pseudo 1346184 RPL7P3 ribosomal protein L7 pseudogene 3 140857 NG_001005,AL449263 GDB:11507710 dJ353C17.2 pseudo 1348113 RPL7P4 ribosomal protein L7 pseudogene 4 387118 AB088099 1605905 RPL7P6 ribosomal protein L7 pseudogene 6 90193 NG_005389,AC092828 pseudo 735772 RPL8 ribosomal protein L8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 724582 7506540,15189156,14567916,16169070,15635413,15592455,15489334,14743216,12962325,12477932,11875025,11790298,9582194,9531480,8722009,12401809 724582 6132 CR601765,CR603238,CR604065,CR604122,CR605549,CR606016,CR607220,CR610036,CR611740,CR612339,CR614597,CR614795,CR615771,CR619989,CR623386,NM_000973,NM_033301,AB007168,AB061821,AF235103,CH471162,AK289459,BC000047,BC000077,BC012197,BC013104,BC030151,BC093064,BT007379,CR457046,CR590177,CR590460,CR592009,CR595000,CR595877,CR596459,CR599063,CR599190,CR599267,CR601133,CR601648,CR623747,CR624942,CR625112,CR625384,CR626383,Z28407 NP_000964,NP_150644,BAA25829,BAB79459,EAW82047,EAW82048,EAW82049,EAW82050,EAW82051,EAW82052,EAW82053,EAW82054,BAF82148,AAH00047,AAH00077,AAH12197,AAH13104,AAH93064,AAP36043,CAG33327,CAA82248,P62917,ABM84235,ABW03354 Hs.178551 GDB:303947 protein-coding 1349022 RPL8P1 ribosomal protein L8 pseudogene 1 387046 1344976 RPL8P2 ribosomal protein L8 pseudogene 2 378814 736467 RPL9 ribosomal protein L9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 8597601,15189156,14567916,16341674,16189514,15635413,15489334,12477932,11790298,9582194,8722009,8415001 6133 BG829769,BM841336,BQ286041,CR592704,CR593616,CR595992,CR596023,CR604645,CR604940,CR605134,CR605562,CR608917,CR620053,CR625200,D14531,D16961,U09953,U21138,NM_000661,NM_001024921,AB007169,AC021148,CH471069,U09954,AB062431,AK130966,AL832047,AY320412,AY376242,AY597415,BC000483,BC004156,BC004206,BC007967,BC012149,BC031906,BC066318,BC070214,BC100285 AAI00286,BAA03401,AAB01040,AAA63752,P32969,Q53Z07,Q69YS1,ABM83653,ABM83885,ABM86900,NP_000652,NP_001020092,BAA25830,EAW92926,EAW92927,EAW92928,EAW92929,EAW92930,EAW92931,AAB01041,BAB93494,CAH10410,AAP73811,AAQ82909,AAH00483,AAH04156,AAH04206,AAH07967,AAH12149,AAH31906,AAH66318,AAH70214 Hs.412370,Hs.513083,Hs.655427,Hs.707474 GDB:237858 DKFZp313J1510|FLJ27456|MGC15545|NPC-A-16 protein-coding 1348949 RPL9P1 ribosomal protein L9 pseudogene 1 8597601 6126 NG_001192,U09955 GDB:568486 RPL9L1 pseudo 1351822 RPL9P2 ribosomal protein L9 pseudogene 2 9027492 114127 GDB:11507714 1345128 RPL9P6 ribosomal protein L9 pseudogene 6 326311 NG_002563,AL160192 pseudo 1347716 RPL9P7 ribosomal protein L9 pseudogene 7 8597601 317771 AC131011,NG_002471 pseudo 1606671 RPL9P8 ribosomal protein L9 pseudogene 8 9847074,8597601 254948 NG_002468,AC011295 pseudo 1344368 RPLP0 ribosomal protein, large, P0 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 3323886,15303970,15189156,14567916,17621266,17081983,16807684,16565220,16541075,16169070,15592455,15489334,15336536,15302935,15231748,15121898,14729942,14702039,12479870,12477932,11790298,11401437,10856704,9847074,9582194,9373149,8722009,8125298,7821789,6182142,1602151,16189514,14743216,11277934 6175 NM_053275,NM_001002,AB007187,AC004263,CH471054,AF274958,AK001313,AK129754,AK129823,AK222468,AK222571,AK291109,BC000087,BC000345,BC000752,BC001127,BC001834,BC003655,BC005863,BC008092,BC008594,BC009867,BC015173,BC015690,BC019014,BC070194,BC104645,BC107717,BF131912,CR597824,CR599043,CR600402,CR602521,CR613873,CR625036,D28418,M17885 NP_444505,NP_000993,BAA25845,AAC05176,EAW98170,EAW98171,EAW98172,EAW98173,EAW98174,AAK07533,BAD96188,BAD96291,BAF83798,AAH00087,AAH00345,AAH00752,AAH01127,AAH01834,AAH03655,AAH05863,AAH08092,AAH08594,AAH09867,AAH15173,AAH15690,AAH70194,AAI04646,AAI07718,BAA05784,AAA36470,P05388,Q3B7A4,Q3MHV2,Q53HK9,Q53HW2,Q6NSF2,Q9BZT1,ABM82739,ABM85922 Hs.546285 GDB:132840 L10E|MGC111226|MGC88175|P0|PRLP0|RPP0 protein-coding 1344936 RPLP0P1 ribosomal protein, large, P0 pseudogene 1 128745 NG_000973,AL049794 GDB:11507716 dJ777L9.2 pseudo 1347599 RPLP0P2 ribosomal protein, large, P0 pseudogene 2 14702039,12477932 113157 NR_002775,AP002754,AK095332,AY672101,BC010523 Hs.502733 GDB:11507718 RPLP0L2 pseudo 736952 RPLP1 ribosomal protein, large, P1 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 3323886,12054647,15189156,14567916,17081983,16964243,16807684,16565220,16169070,16097034,16094384,15489334,14997482,14729942,12479870,12477932,11875025,11401437,10856704,8722009,7821789,16189514,11277934 6176 NM_001003,NM_213725,AB061836,AC027237,CH471082,AK026579,AK130958,AY303789,BC003369,BC007590,BM745938,CR450339,CR542209,CR595749,CR597116,CR597881,CR598265,CR602613,CR603914,CR611187,CR614011,CR615773,CR616118,CR622341,CR623515,D28366,M17886 NP_000994,NP_998890,BAB79474,EAW77843,EAW77844,EAW77845,AAP68820,AAH03369,AAH07590,CAG29335,CAG47005,BAA05732,AAA36471,P05386,Q6ICQ4,Q7Z612,Q8WYZ7,Q6FG99 Hs.356502 GDB:132842 FLJ27448|MGC5215|P1|RPP1 protein-coding 1343443 RPLP1P1 ribosomal protein, large, P1 pseudogene 1 145499 NG_002526,AC007686 pseudo 735289 RPLP2 ribosomal protein, large, P2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 3323886,15189156,14567916,17081983,16964243,16920697,16807684,16565220,15635413,15489334,15146197,14997482,10508479,8722009,8076819,7821789,2153399,1286669,14981896,14729942,12479870,12477932,12379128,11875025,11401437,10856704 6181 NM_001004,AB061837,AP006621,CH471158,BC005354,BC005920,BC007573,BC062314,CN270352,CR542212,CR542248,CR590110,CR595853,CR618265,D17005,D17174,D28411,M17887 NP_000995,BAB79475,EAX02393,EAX02394,AAH05354,AAH05920,AAH07573,AAH62314,CAG47008,CAG47044,BAA05777,AAA36472,P05387,Q6FG96 Hs.437594 GDB:132841 D11S2243E|MGC71408|P2|RPP2 ribosomal protein, large p2 protein-coding 1345554 RPLP2P1 ribosomal protein, large P2 pseudogene 1 387056 731637 RPN1 ribophorin I This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. 1580863 15835887,17353931,17081065,16713569,15489334,12887896,12643545,12477932,12200120,12198498,10737800,10660554,9373149,9307271,8125298,3034581,12840049,16189514 6184 NM_002950,AC079945,CH471052,CQ834258,CQ834296,AK223595,BC007995,BC010839,BF930946,BG720812,CR456742,CR621594,CR749284,Y00281 NP_002941,EAW79306,EAW79308,EAW79309,CAH05344,CAH05363,BAD97315,AAH07995,AAH10839,CAG33023,CAH18139,CAA68392,P04843,Q53EP4,EAW79307,Q6IBR0,Q96HX3 Hs.518244,Hs.603636 GDB:119570 DKFZp686B16177|OST1|RBPH1 protein-coding 732277 RPN2 ribophorin II This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. 1580863 15835887,17220478,17353931,10660554,15489334,14702039,12887896,12665801,12477932,11780052,9642163,3034581,2066112,1301181 6185 NM_002951,AJ237734,AL031659,CH471077,AK096243,BC002380,BC003560,BC013028,BC020222,BG718075,CR456899,CR598008,CR600686,CR604664,CR614309,CR619834,CR626786,Y00282 NP_002942,CAB54801,CAB41763,CAI42667,CAI42668,CAI42670,CAI42671,CAI42672,EAW76073,EAW76074,EAW76075,EAW76076,EAW76077,AAH02380,AAH03560,AAH13028,AAH20222,CAG33180,CAA68393,P04844,Q5JYR4,Q5JYR6,Q5JYR7,ABM83273,ABM86478 Hs.370895 GDB:119571 RIBIIR|RPN-II|RPNII|SWP1 ribophorin 2 protein-coding 1313464 RPP14 ribonuclease P/MRP 14kDa subunit 1580863 10024167,15096576,16344560,15635413,15489334,15342556,15146197,14702039,12477932,11929972,11455963,11181995,11158571,16189514 11102 NM_001098783,NM_007042,AC098479,CH471055,AF001175,AI566526,BC002441,BC007342,BC012017,BP352480,CN354601,CR407611,CR593615,CR607469,CR622586,DA040251,DC360931 NP_001092253,NP_008973,AAD00892,AAH02441,AAH07342,AAH12017,CAG28539,O95059,Q53X97 Hs.446320,Hs.700016 GDB:9956795 FLJ31508|P14 ribonuclease p 14kda subunit protein-coding 1346051 RPP21 ribonuclease P/MRP 21kDa subunit 15096576,17601797,15489334,14702039,12477932,11497433,11455963 79897 NM_024839,AL662795,AL662832,AL773535,BX294158,CH471081,AF212152,AJ504713,AJ504714,AJ504715,AJ504716,AK026291,BC011730,CR594375 NP_079115,CAI18254,CAI18255,CAI18256,CAI17503,CAI17506,CAI17507,CAI41820,CAI41822,CAI41823,CAI41824,CAM25886,CAM25887,CAM25888,CAM25889,EAX03287,EAX03288,EAX03289,AAK39955,CAD44289,CAD44290,CAD44291,CAD44292,BAB15433,AAH11730,Q5JPL9,Q5JPM0,Q5JPM1,Q5JPM2,Q5JPM3,Q5STF8,Q5STF9,Q5STG0,Q5STG1,Q5STG2,Q5SU39,Q9H633 Hs.183232 C6orf135|FLJ22638 ribonuclease p 21kda subunit protein-coding 1313231 RPP25 ribonuclease P/MRP 25kDa subunit 737633,1580863 15096576,16344560,15489334,14702039,12477932,12003489 737633 54913 NM_017793,AC015720,CH471136,AK000381,AY034074,BC002497,BC007270,BE254727,CR594166,CR595106,CR600222,CR608482,CR619276,CR619953,CR620648,CR623184,DA041068 NP_060263,EAW99285,EAW99286,BAA91128,AAK54443,AAH02497,AAH07270,Q9BUL9 Hs.8562 FLJ20374 ribonuclease p 25kda subunit protein-coding 1321878 RPP30 ribonuclease P/MRP 30kDa subunit 1580863 15096576,9630247,17081983,17033964,16344560,15635413,15489334,15164054,14702039,12477932,11455963,9373149,9308968,9037013,8889548,8125298 10556 NM_006413,AL360011,AL590622,CH471066,AK095810,AK225532,AL833628,BC006991,BC044601,BM978236,CR591791,CR610035,CR618623,NM_001104546,DB049454,U77665 NP_001098016,NP_006404,CAC70100,CAH72456,CAH72457,EAW50117,AAH06991,AAC51143,P78346,Q5VU10,ABM84107,ABM87487 Hs.139120 GDB:9957652 FLJ38491|RP11-320F15.1|TSG15 protein-coding 1316690 RPP38 ribonuclease P/MRP 38kDa subunit 15096576,9630247,15635413,15489334,15342556,15164054,14702039,12477932,11455963,10444065,9373149,9037013,8125298,16189514 10557 NM_001097590,NM_006414,AL590365,CH471072,AK057006,AK223418,AW292674,BC029494,BP247818,CR541816,CR600741,NM_183005,CX787861,CX872398,U77664 NP_892117,NP_001091059,NP_006405,CAH73967,CAH73968,EAW86240,EAW86241,BAD97138,AAH29494,CAG46615,AAC51142,P78345,Q5VUC3 Hs.94986 GDB:9957654 RP11-455B2.5 protein-coding 1321008 RPP40 ribonuclease P/MRP 40kDa subunit 1580863 15096576,9630247,12477932,8889548 10799 NM_006638,AL359643,CH471087,U94317,BC017871,BG430780,BU607286,CR590977 NP_006629,CAH73739,CAH73740,EAW55170,EAW55171,EAW55172,EAW55173,EAW55174,AAC24114,AAH17871,O75818,Q5VX97,Q5VX98,Q8WVK8 Hs.511756 GDB:9958295 RNASEP1|bA428J1.3 protein-coding 1344011 RPPH1 ribonuclease P RNA component H1 H1RNA is the RNA component of the RNase P ribonucleoprotein, an endoribonuclease that cleaves tRNA precursor molecules to form the mature 5-prime termini of their tRNA sequences (Baer et al., 1989 [PubMed 2308839]).[supplied by OMIM] 7916700,2470644,2308839,15096576 85495 NR_002312,AL355075,X16612,X15624 Hs.613102 H1RNA miscrna 1350669 RPRM reprimo, TP53 dependent G2 arrest mediator candidate 737633,1580863 17353931,10930422,18197409,16752411,16303743,15700311,12477932,12395409 737633 56475 NM_019845,AC012501,CH471058,CQ782742,AA452090,AB043585,AK074808,BC002908,CR596780,CR609982,CR610159 NP_062819,AAY14783,EAX11467,CAF85975,BAB01513,AAH02908,Q9NS64 Hs.100890 FLJ90327|REPRIMO reprimo, tp53 dependant g2 arrest mediator candidate protein-coding 1604446 RPRML reprimo-like 12477932 388394 BC108690,NM_203400,AC005670,CH471231,BC033942 AAH33942,AAI08691,Q8N4K4,NP_981945,EAW57693 Hs.367999 MGC131790|MGC43894 protein-coding 733640 RPS10 ribosomal protein S10 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 7772601,17353931,15883184,15189156,12588972,16169070,15635413,15592455,15489334,15345747,12651107,12477932,11751223,11121577,9915854,9582194,8722009,8706699 6204 NM_001014,AB007151,BX255972,CH471081,BC001032,BC001955,BC005012,BC070235,BC071946,BC073799,BE397113,CD385233,CR595593,CR597315,CR608357,CR608906,CR622126,CR625630,U14972,Z70761,AB209165,CR611902 NP_001005,BAA25817,CAH73100,CAH73101,EAX03782,EAX03783,EAX03784,AAH01032,AAH01955,AAH05012,AAH70235,AAH71946,AAH73799,AAA85660,CAA94807,P46783,Q14489,Q59GE4,BAD92402,ABM83060,ABM86254 Hs.645317,Hs.702925 GDB:6283091 MGC88819 protein-coding 1352265 RPS10L ribosomal protein S10-like 93144 NG_000952,AL118502 GDB:11507719 bA371L19.2 pseudo 1348476 RPS10P1 ribosomal protein S10 pseudogene 1 394255 1351811 RPS10P2 ribosomal protein S10 pseudogene 2 140758 NG_001001,AL118510 GDB:11507721 dJ858M22.1 pseudo 1602177 RPS10P3 ribosomal protein S10 pseudogene 3 158104 XR_016556,XR_038707,XR_019617 pseudo 733888 RPS11 ribosomal protein S11 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S17) is thought to be involved in the recognition of termination codons. This gene is co-transcribed with a small nucleolar RNA gene, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17353931,15883184,1577483,3267208,15189156,12588972,15489334,14743216,12477932,11790298,10580157,9582194,8722009,8706699,1697501 6205 NM_001015,AB007152,AB028893,AC010619,CH471177,AV759412,BC007283,BC007603,BC007945,BC010028,BC010187,BC016378,BC018829,BC070224,BC100025,BF239060,CR591220,CR598342,CR603659,CR616168,CR619273,CR622474,X06617 NP_001006,BAA25818,BAA88215,EAW52497,AAH07283,AAH07603,AAH07945,AAH10028,AAH16378,AAH70224,AAI00026,CAA29834,P62280,ABM84151,ABM87554 Hs.433529 GDB:118868 protein-coding 1349242 RPS11P1 ribosomal protein S11 pseudogene 1 128718 NG_000972,AL049690 GDB:11507723 dJ1060K6.1 ribosomal protein s11, pseudogene 1 pseudo 735309 RPS12 ribosomal protein S12 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 1861993,15883184,15189156,12588972,15635413,12477932,11875025,11870519,11790298,9582194,8722009,8706699,1712897 6206 NM_001016,AB007153,AB061840,AL137783,CH471051,BC002550,BC017321,BC071930,BC095424,BQ276878,CR598965,CR608220,X53505 NP_001007,BAA25819,BAB79478,CAC12946,EAW48008,EAW48009,EAW48010,EAW48011,AAH17321,AAH71930,AAH95424,CAA37582,P25398,Q76M58 Hs.546289 GDB:128736 protein-coding 1354074 RPS12P1 ribosomal protein S12 pseudogene 1 326312 NG_002564,AL442663 pseudo 737303 RPS13 ribosomal protein S13 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 15592455,15489334,15149863,14743216,12861018,12477932,11790298,11306805,9582194,8920921,8722009,8706699,2403345,17081983,16189514,15680243,8332508,12054647,15883184,15189156,12588972,17881366 6207 AC006597,AC116533,CH471064,D88010,BC000475,BC006772,BC029732,BC066322,BC100032,L01124,L05090,NM_001017,X79239 NP_001008,EAW68448,BAA13528,AAH00475,AAH06772,AAH29732,AAH66322,AAI00033,AAA60283,AAC15854,CAA55821,P62277,ABM82033,ABM85214 Hs.446588 GDB:215600 protein-coding 731753 RPS14 ribosomal protein S14 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 17353931,15883184,3529092,7867928,15189156,12588972,18202658,16713569,16189514,15489334,15231748,12477932,9582194,9152021,8722009,8706699,8076819,7177110,3785212,1549121 6208 NM_001025070,NM_005617,AC011388,CH471062,M13934,NM_001025071,AA467888,BC001126,BC003401,BC006784,BC020515,BC091474,BC110792,BM454896,BM557014,CR590045,CR592161,CR593422,CR596265,CR597351,CR617562,CR623170,CR624672 NP_001020242,NP_001020241,NP_005608,EAW61723,EAW61724,EAW61725,EAW61726,AAB59504,AAB59505,AAH01126,AAH03401,AAH06784,AAH20515,AAH91474,P62263,Q15372,ABM81890,ABM85062 Hs.381126 GDB:119572 EMTB protein-coding 736357 RPS15 ribosomal protein S15 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 15231747,15883184,15189156,12588972,15489334,12477932,9582194,8722009,8706699,3378620,2821540,2159154,2044758 6209 NM_001018,AC027307,CH471139,M32405,AF145025,BC064908,BC080543,BC105810,BC141832,BU602036,CR592941,CR593936,CR597356,J02984 NP_001009,EAW69499,EAW69500,AAA36568,AAP97277,AAH64908,AAI05811,AAI41833,AAA36036,P62841,Q9UDC2 Hs.406683 GDB:132222 MGC111130|RIG protein-coding 735975 RPS15A ribosomal protein S15a Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 9582194,14667819,15883184,15189156,12588972,16189514,15489334,14702039,12477932,8722009,8706699,8185605 6210 NM_001019,NM_001030009,AB007154,AC020716,AC138811,CH471186,CS185588,AB062400,AK023088,AK130967,AK291988,AY208299,BC001697,BC030569,BC032115,BC046113,BC105273,BC105292,BF678907,BG035607,CR610037,CR614478,CR621365,X84407 NP_001010,NP_001025180,BAA28592,EAW50254,EAW50255,CAJ42769,BAB93487,BAF84677,AAO48936,AAH01697,AAH30569,AAH46113,AAI05274,AAI05293,CAA59127,P62244 Hs.370504 GDB:9863264 FLJ27457|MGC111208|S15a protein-coding 1350733 RPS15AP1 ribosomal protein S15a pseudogene 1 92682 NG_000951,AL121759 GDB:11507725 dJ872K7.6 pseudo 1347234 RPS15AP2 ribosomal protein S15a pseudogene 2 326316 NG_002566,AL117692 pseudo 1344059 RPS15AP3 ribosomal protein S15a pseudogene 3 326317 NG_002567,AL358832 pseudo 1351988 RPS15AP5 ribosomal protein S15a pseudogene 5 414230 1352773 RPS15P1 ribosomal protein S15 pseudogene 1 2159154 6211 GDB:132223 1351131 RPS15P2 ribosomal protein S15 pseudogene 2 2159154 6212 GDB:132224 1348435 RPS15P3 ribosomal protein S15 pseudogene 3 2159154 6213 GDB:132225 1344451 RPS15P4 ribosomal protein S15 pseudogene 4 2159154 6214 GDB:132226 1353963 RPS15P5 ribosomal protein S15 pseudogene 5 2159154 6215 GDB:132227 1352452 RPS15P6 ribosomal protein S15 pseudogene 6 2159154 6216 GDB:132228 737248 RPS16 ribosomal protein S16 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17220478,17353931,15883184,2016298,15189156,12588972,18318121,15635413,15489334,14702039,12477932,12082018,11875025,11790298,11101529,11082045,9582194,8889548,8722009,8706699,7821789,14743216 6217 NM_001020,AB061841,AC011500,CH471126,AK055869,BC004324,BC007977,BC024970,BC071674,BC095429,BQ421722,CB107158,CB242275,CR619874,D28392,M60854 NP_001011,BAB79479,EAW56892,EAW56893,EAW56894,EAW56895,AAH04324,AAH07977,AAH71674,BAA05758,AAA60583,P62249,Q6IPX4,ABM84375,ABM87218 Hs.397609 GDB:127871 protein-coding 1351474 RPS17 ribosomal protein S17 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 14702039,12477932,9582194,8878544,8722009,8706699,8318536,7661859,3529092,3240863,15883184,15189156,12588972,17647292,15635413,15489334,15345747,1577483 6218 NM_001021,AC135995,CH471188,M18000,BC009407,BC019899,BC020453,BC022370,BC049824,BC062715,BC070222,BC071928,CR595559,CR602312,CR609691,CR612555,CR615408,CR618328,CR618357,CR620738,M13932 NP_001012,EAW62453,EAW62454,EAW62455,AAA60285,AAH09407,AAH19899,AAH22370,AAH49824,AAH62715,AAH70222,AAH71928,AAA60284,P08708,ABM84306,ABM87700 Hs.433427 GDB:128851 MGC72007|RPS17L1|RPS17L2 protein-coding 1352565 RPS17L3 ribosomal protein S17-like 3, G1-phase expressed 8123253 6221 GDB:307862 1346959 RPS17L4 ribosomal protein S17-like 4 3240863 442216 NG_005089,AL049693 Q9NU98 dJ753D5.2 pseudo 1342727 RPS17P1 ribosomal protein S17 pseudogene 1 387047 1344055 RPS17P2 ribosomal protein S17 pseudogene 2 3459254,3240863 6219 NG_003033,AC091986,AC126767 GDB:119573 RPS17A|RPS17L1 pseudo 1353406 RPS17P3 ribosomal protein S17 pseudogene 3 6220 GDB:119574 1350895 RPS17P4 ribosomal protein S17 pseudogene 4 85966 GDB:11510888 1342484 RPS18 ribosomal protein S18 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 15883184,15189156,12588972,15635413,15532723,14574404,12477932,12145273,11790298,9582194,8722009,8706699,8441687,7923143,1872840 6222 CR621545,X69150,NM_022551,AL645940,AL662820,AL662827,AL713971,AL844527,CH471081,CR759786,CR759817,AY536376,BC101786,BC101788,BC106063,CR593767,CR596186,CR599079,CR604146,CR605901,CR611667 CAB56794,P62269,Q4VXZ3,Q5GGW2,Q5SUJ3,NP_072045,CAI18076,CAI18127,CAI17530,CAI17656,CAI41848,EAX03694,EAX03695,EAX03696,EAX03697,EAX03698,EAX03699,CAQ08251,CAQ08021,AAT66049,AAI01787,AAI01789,AAI06064 Hs.627414 GDB:138447 D6S218E|HKE3|KE-3|KE3|MGC117351|MGC126835|MGC126837 protein-coding 1347004 RPS18P1 ribosomal protein S18 pseudogene 1 15489334,14702039,11780052,10718198 128676 NG_000970,AL109935 GDB:11507731 dJ1022P6.1 pseudo 1351157 RPS18P2 ribosomal protein S18 pseudogene 2 326320 NG_002570,AL122020 pseudo 68661 RPS19 ribosomal protein S19 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1599571,1599572,1580863 9988267,17353931,16289379,11112378,10662814,10598818,10590074,9582194,8722009,8706699,1339304,16189514,15189156,12588972,17962699,17517689,17356406,17199736,17178250,17107358,17082006,17053056,16990592,16266891,16159874,15755903,15635413,15626736,15489334,15330156,15075082,12750732,12651630,12586610,12477932,11942409,11733378,11716516,11226885,15883184 1599571,1599572 6223 NM_001022,NG_007080,AB007155,AC010616,AF092907,CH471126,EU326300,BC000023,BC007615,BC017386,BC018616,M81757 NP_001013,BAA28593,AAD13668,EAW57071,EAW57072,EAW57073,EAW57074,ACA05898,AAH00023,AAH07615,AAH17386,AAH18616,AAA89070,P39019,Q8WVX7,ABM82749,ABW03437 Hs.438429 GDB:9863249 DBA protein-coding 1602664 RPS19BP1 ribosomal protein S19 binding protein 1 16289379,15489334,15461802,14702039,12477932,10591208 91582 CR610413,CR613278,NM_194326,AL022312,CH471095,AK025423,AK055865,BC037573,BC047711,CR456443,CR592741 Q86WX3,CAK54472,CAK54771,NP_919307,EAW60343,EAW60344,AAH37573,AAH47711,CAG30329 Hs.526933 AROS|FLJ21770|MGC52010|S19BP|dJ1104E15.4 protein-coding 1349522 RPS19P1 ribosomal protein S19 pseudogene 1 10753603 85486 NG_001295,AF242191,AL121893 GDB:11508870 bA189K21.7 pseudo 1352216 RPS19P2 ribosomal protein S19 pseudogene 2 10753603 85487 NG_001296,AF242192,AL357055 GDB:11508895 pseudo 732314 RPS2 ribosomal protein S2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 2308862,15883184,15189156,12588972,17081983,16964243,16263090,16061210,15635413,15489334,15473865,15324660,12694581,12477932,12422231,11751223,9582194,8722009,8706699 6187 BC075830,BC103756,BC105985,BC106060,CR590936,CR591765,CR593005,CR594414,CR596231,CR601170,CR605226,CR606602,CR607006,CR607612,CR607747,CR608202,CR608509,CR609604,CR610190,CR612811,CR613101,CR613584,CR617837,CR620130,CR622407,CR624847,X17206,NM_002952,AB007147,AC005363,AL832857,CH471112,AB065088,AB065089,AB082925,BC001795,BC004520,BC006559,BC008329,BC008862,BC010165,BC012354,BC013833,BC016178,BC016951,BC018993,BC019021,BC020336,BC021545,BC023541,BC025677,BC029979,BC032129,BC035427,BC040830,BC052235,BC063011,BC066321,BC068051,BC071673,BC071922,BC071923,BC071924,BC073966 AAH75830,AAI03757,AAI05986,AAI06061,AAH73966,NP_002943,BAA25813,EAW85592,EAW85593,EAW85594,EAW85595,EAW85596,BAB93525,BAB93526,BAC16801,AAH01795,AAH04520,AAH06559,AAH08862,AAH10165,AAH12354,AAH16178,AAH16951,AAH18993,AAH21545,AAH23541,AAH25677,AAH32129,AAH66321,AAH68051,AAH71673,AAH71922,AAH71923,AAH71924,O60249,P15880,Q3KQT6,Q6IPX5,Q8J014,Q8N5L9,Q8NI61,Q8NI62,Q9BSW5,ABM83371,ABM86582,CAA35078 Hs.356366,Hs.381079,Hs.498569,Hs.698340,Hs.709223,Hs.709308 GDB:9863247 LLREP3|MGC102851|MGC117344|MGC117345 protein-coding 736603 RPS20 ribosomal protein S20 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8479924,15231747,17220478,17373842,15883184,15189156,12588972,16968546,15489334,12477932,11875025,9582194,8722009,8706699,8674114,7821789 6224 NM_001023,AB007156,AB061842,AC107376,CH471068,AK130961,AV716603,BC007507,BC087850,D28358,L06498 NP_001014,BAA25820,BAB79480,EAW86770,EAW86771,EAW86772,AAH07507,AAH87850,BAA05724,AAA60286,P60866,ABM84138,ABM87540 Hs.8102 GDB:9863265 FLJ27451|MGC102930 protein-coding 1348390 RPS20P1 ribosomal protein S20 pseudogene 1 10830953 54025 NG_000906,AF015720 GDB:10796432 RPS20P ribosomal protein s20, pseudogene 1 pseudo 1345020 RPS20P2 ribosomal protein S20 pseudogene 2 64726 GDB:11507735 1348542 RPS20P3 ribosomal protein S20 pseudogene 3 3459254 6225 NG_003034,AC133134 GDB:119575 RPS20A pseudo 1348521 RPS20P4 ribosomal protein S20 pseudogene 4 3459254 6226 NG_003035,AC011406 GDB:119576 RPS20B pseudo 1348628 RPS21 ribosomal protein S21 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8332502,15883184,15189156,12588972,16341674,16189514,12477932,11875025,11780052,10900511,10079194,9582194,8889548,8722009,8706699,7805865,7786314 6227 L04483,X79563,AB007157,AB061843,AJ250907,AL121832,CH471077,AV758927,BC018140,BC021990,BC027976,BC071927,BM840443,NM_001024,CF124568,CR542132,CR593203,CR619080 AAA99893,CAA56100,P63220,Q13666,Q6FGH5,Q8WVC2,ABM84506,ABM84508,ABM85685,ABM85943,ABM85955,NP_001015,BAA25821,BAB79481,CAB83213,CAC21458,CAC29247,CAC29248,EAW75367,EAW75368,EAW75369,EAW75370,EAW75371,AAH18140,AAH21990,AAH27976,CAG46929 Hs.190968 GDB:216180 protein-coding 1343302 RPS23 ribosomal protein S23 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8415000,15883184,15189156,12588972,15635413,15489334,14702039,12477932,9582194,8889548,8722009,8706699,7829101,7821789 6228 NM_001025,AB007158,AC010598,CH471084,AI955885,AK092335,AK291132,BC046998,BC070221,BG567497,BI497419,BM476492,BU533156,BU594771,CF129812,CR456996,CR593430,CR594322,CR600888,CR607858,CR613359,CR616008,D14530,D28396 NP_001016,BAA25822,EAW95887,EAW95888,BAF83821,AAH70221,CAG33277,BAA03400,BAA05762,P62266 Hs.527193 GDB:9863251 FLJ35016 protein-coding 1345472 RPS23P1 ribosomal protein S23 pseudogene 1 93948 NG_000953,AP002906 GDB:11507741 pseudo 734142 RPS24 ribosomal protein S24 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 2210388,15883184,15189156,12588972,18230666,16381901,15489336,15489334,12477932,11230166,11076863,9582194,9027498,8722009,8706699,8647458,1588318,16189514 6229 NM_001026,AB007159,AL512628,CH471083,U12202,AF147330,BC000523,BC003149,BC071926,BG610671,BX537975,BX647260,CD176901,CR590398,CR595166,CR596251,CR600632,CR613679,CR613997,NM_033022,CR621884,M31520 NP_148982,NP_001017,CAI16467,CAI16468,EAW54618,EAW54619,EAW54620,EAW54621,EAW54622,EAW54623,EAW54624,EAW54625,EAW54626,EAW54627,AAB08006,AAB08007,AAH00523,AAH71926,CAD97939,AAA36588,P62847,Q5T0P7,Q5T0P8,Q7Z3D1,CAL38254,CAL38666 Hs.356794 GDB:128662 DBA3|DKFZp686N1586 protein-coding 1343131 RPS24P1 ribosomal protein S24 pseudogene 1 12815422 23756 NG_000893,AC004772 GDB:10795337 RPS24P pseudo 1352517 RPS24P2 ribosomal protein S24 pseudogene 2 326321 NG_002571,AC007182 pseudo 1352060 RPS24P3 ribosomal protein S24 pseudogene 3 326322 NG_002572,AL121769 pseudo 1353637 RPS25 ribosomal protein S25 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 724692 1748303,15231747,15883184,15189156,12588972,16169070,15489334,11875025,11101529,10050887,12477932,9582194,8722009,8706699,8406452,8020948,7821789,3378620,1544436 724692 6230 NM_001028,AB061844,AP003392,CH471065,D15048,BC003537,BC004294,BC004986,CR608319,CR620392,CR622778,D28369,M64716 NP_001019,BAB79482,EAW67425,EAW67426,AAH03537,AAH04294,AAH04986,BAA05735,AAA16105,P62851,ABM83968,ABM87284 Hs.512676 GDB:129071 protein-coding 2291805 RPS25P1 ribosomal protein S25 pseudogene 1 283114 NG_003216,AC104563 pseudo 1344988 RPS26 ribosomal protein S26 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 15716004,17220478,17353931,15883184,15189156,12588972,17081983,16189514,15489334,12477932,12068637,11752456,9602156,9582194,8722009,8706699,8670309,8464749,7945460 6231 NM_001029,AB007160,AB007161,AC034102,CH471054,U41448,X79236,AV681946,BC002604,BC013215,BC015832,BC070220,BC105276,BC105798,CR611958,X69654 NP_001020,BAA25823,BAA25824,EAW96876,EAW96877,EAW96878,AAC26987,CAA55818,AAH02604,AAH15832,AAH70220,AAI05277,AAI05799,CAA49345,P62854,Q5JVH5,Q76N56,Q76N57,ABM82821,ABM83717,ABM86007,ABM87037,ABM87088 Hs.447562,Hs.567235,Hs.632726 GDB:136336 MGC104292 protein-coding 1602142 RPS26L1 ribosomal protein S26-like 1 15772651 441502 NR_002309,AL929401 CAI40435,Q5JNZ5 bA366E13.1 pseudo 1345377 RPS26P1 ribosomal protein S26 pseudogene 1 10830953 54024 NG_000905,AP000692,AP001725 GDB:10796434 RPS26P pseudo 1601905 RPS26P10 ribosomal protein S26 pseudogene 10 401470 NG_005790,AC104339 pseudo 1605161 RPS26P3 ribosomal protein S26 pseudogene 3 10557312 441386 NG_004800,AL353638 bA338L20.1 pseudo 1605445 RPS26P4 ribosomal protein S26 pseudogene 4 692146 NG_005578,AF121781 pseudo 1343730 RPS26P5 ribosomal protein S26 pseudogene 5 387495 1604430 RPS26P6 ribosomal protein S26 pseudogene 6 392256 NG_003189,AC027373 pseudo 1353220 RPS26P9 ribosomal protein S26 pseudogene 9 446209 732460 RPS27 ribosomal protein S27 (metallopanstimulin 1) Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S27E family of ribosomal proteins. It contains a C4-type zinc finger domain that can bind to zinc. The encoded protein has been shown to be able to bind to nucleic acid. It is located in the cytoplasm as a ribosomal component, but it has also been detected in the nucleus. Studies in rat indicate that ribosomal protein S27 is located near ribosomal protein S18 in the 40S subunit and is covalently linked to translation initiation factor eIF3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 8908372,15883184,8407955,15189156,12588972,18243099,17998396,17081983,16914586,16446370,15635413,15489334,12686615,12477932,12351790,12175529,11875025,9582194,8722009,8706699,7986747,16189514,14743216 6232 NM_001030,AB007162,AB061845,AL358472,CH471121,AV763942,BC002658,BC070219,CD177656,L19739,U57847 NP_001021,BAA25825,BAB79483,CAI14032,CAI14033,EAW53239,EAW53240,AAH02658,AAH70219,AAA59867,AAB02266,P42677,Q5T4L6 Hs.546291,Hs.654475 GDB:5892181 MPS-1|MPS1 ribosomal protein s27 protein-coding 736388 RPS27A ribosomal protein S27a Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. 16189514,15936278,15883184,15761153,15647830,15489334,15231748,15143060,15039775,14764729,14755250,14702039,12960054,12477932,11875025,11733996,10995389,10772958,9582194,9373149,8722009,8706699,8125298,2581967,2538756,2537304,1660345,1657614,1370760 6233 NM_002954,AB007163,AB061854,AC012358,CH471053,AK093614,AK225079,AK225718,AY952889,BC001392,BC042362,BC053371,BC066293,CR601272,CR604524,CR625989,M10939,S79522,X63237 NP_002945,BAA25826,BAB79488,EAX00106,EAX00107,EAX00108,EAX00109,EAX00110,AAH01392,AAH42362,AAH53371,AAH66293,AAA36788,AAB21188,CAA44911,P62979,Q49A90,Q5RKT7,Q8WYN9 Hs.311640,Hs.546292 GDB:9863253 CEP80|HUBCEP80|UBA80|UBCEP1|UBCEP80 protein-coding 1353685 RPS27AP1 ribosomal protein S27a pseudogene 1 10772958 103911 NG_000960,AC005291,AC083783 GDB:11507745 RPS27AP pseudo 1606153 RPS27AP2 ribosomal protein S27a pseudogene 2 140752 NG_000995,AL031664 GDB:11507747 dJ531H16.4 pseudo 1346749 RPS27AP3 ribosomal protein S27a pseudogene 3 140714 NG_000985,AL391114 GDB:11507749 RPS27AP|bA332A4.3 pseudo 1348750 RPS27AP4 ribosomal protein S27a pseudogene 4 326323 NG_002573,AL356015 pseudo 1344574 RPS27L ribosomal protein S27-like This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. 15489334,12477932,11042152,14743216 51065 NM_015920,AC087612,CH471082,AF070668,AK024591,AW013916,BC003667,BC031307,BC047648 NP_057004,EAW77639,EAW77640,AAD20974,AAH03667,AAH47648,Q49A11,Q71UM5 Hs.108957 GDB:11507751 protein-coding 1349846 RPS27P1 ribosomal protein S27 pseudogene 1 414228 1605744 RPS27P3 ribosomal protein S27 pseudogene 3 15869325 654365 NG_005391,AC005912,DQ052670 pseudo 1605793 RPS27P4 ribosomal protein S27 pseudogene 4 389112 NG_005671,AC099560 pseudo 735338 RPS28 ribosomal protein S28 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 17353931,15883184,15189156,12588972,16344560,16189514,12477932,11875025,9582194,8722009,8706699,8415000,15489334,16169070 6234 NM_001031,AB007164,AB061846,AC010323,CH471139,AU126783,BC000354,BC018810,BC021239,BC070217,BC070218,CR457055,CR603137,CR606185,L05091,U58682 NP_001022,BAA28594,BAB79484,EAW68933,EAW68934,AAH00354,AAH21239,AAH70217,AAH70218,CAG33336,AAC15855,AAB07066,P62857,ABM82283,ABM85464 Hs.153177,Hs.322473 GDB:237860 protein-coding 1606050 RPS28P1 ribosomal protein S28 pseudogene 1 652980 NG_005981,AL161670,AL162832 pseudo 734258 RPS29 ribosomal protein S29 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 7772601,17353931,15883184,8781548,15189156,12588972,15489334,12625830,12477932,11875025,11751223,10708601,9582194,8722009,8706699 6235 NM_001032,AB007165,AB061847,AC019065,AL139099,CH471078,CS185573,AA410525,AB055780,AK026649,BC015974,BC032813,BC035313,BF128896,BQ433530,L31610,U14973,NM_001030001 NP_001025172,NP_001023,BAA25827,BAB79485,EAW65765,EAW65766,CAJ42754,BAB62874,AAH15974,AAH32813,AAH35313,AAB27426,AAA85661,P62273,ABM87684,ABW03911 Hs.156367 GDB:5875386 protein-coding 1348455 RPS29P1 ribosomal protein S29 pseudogene 1 122449 NG_002523,AL117694,AL391262 pseudo 1352846 RPS2L1 ribosomal protein S2-like 1 86781 NG_000946,AL031671 GDB:11507753 dJ688G8.1 pseudo 1347616 RPS2P1 ribosomal protein S2 pseudogene 1 140755 NG_000998,AL031668 GDB:11507755 dJ64K7.1 pseudo 1344279 RPS2P2 ribosomal protein S2 pseudogene 2 9847074 326325 NG_002575,AC005519 pseudo 1343719 RPS2P3 ribosomal protein S2 pseudogene 3 326326 NG_002576,AL133368 pseudo 1352236 RPS2P4 ribosomal protein S2 pseudogene 4 92427 NG_002522,AL590326 pseudo 1353342 RPS2P6 ribosomal protein S2 pseudogene 6 342808 NG_005666,AC091305 pseudo 736568 RPS3 ribosomal protein S3 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 1712897,17220478,18045535,15883184,15189156,12588972,17179743,17140567,16807684,16737853,16584637,16565220,15518571,15489334,15302935,14988002,12477932,11943484,11911468,11875025,9582194,9373149,8722009,8706699,8319909,8125298,7789996,7775413,2129557,1742346,14743216 6188 AB061838,AF281313,AP000744,AY791291,CH471076,L16016,AB062288,AK129794,AK130960,AK223048,BC003137,BC003577,BC013196,BC013231,BC029981,BC034149,BC071669,NM_001005,BC071917,BC100284,BC150501,CR591204,CR593831,CR595698,CR597126,CR598084,CR598363,CR599018,CR599459,CR606914,CR607881,CR608382,CR609618,CR610850,CR610898,CR611021,CR611679,CR617487,CR619698,CR620201,CR620902,CR623585,S42658,U14990,U14991,U14992,X55715 NP_000996,BAB79476,AAF82383,AAV40835,EAW74963,AAA18095,BAB93471,BAD96768,AAH03137,AAH03577,AAH13196,AAH34149,AAH71669,AAH71917,AAI00285,AAI50502,AAB19349,AAB60336,AAB60337,AAB60338,CAA39248,P23396,Q53G83,Q6IPX9,Q9NQS8,ABM83814,ABM87135 Hs.546286 GDB:128634 FLJ26283|FLJ27450|MGC87870 protein-coding 1348881 RPS3A ribosomal protein S3A Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. Transcript variants utilizing alternative transcription start sites have been described. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1398113,15883184,9566973,15189156,12588972,17081983,16964243,16385451,16169070,15889794,15592455,15489334,15231748,15047060,12690205,12477932,12463423,11823430,11790298,11790116,10713066,9582194,9573378,8877097,8722009,8706699,8647443,8076819,7821789,17353931,14499622,16189514 6189 CH471056,X87373,AK129825,AK291075,BC000204,BC001708,NM_001006,AB007148,AC095055,BC004981,BC006298,BC009219,BC009404,BC017123,BC018954,BC019072,BC030161,BC066926,BC070211,BC071916,BQ055367,D16953,D16985,D17120,D28374,L13802,M77234,M84711 EAX04988,EAX04989,EAX04990,EAX04991,EAX04992,EAX04993,EAX04994,EAX04995,CAA60827,BAF83764,AAH00204,NP_000997,BAA25814,AAH04981,AAH01708,AAH06298,AAH09219,AAH09404,AAH17123,AAH19072,AAH30161,AAH66926,AAH70211,AAH71916,BAA05740,AAA35682,AAA60290,AAA58487,P61247,Q6NXR8,ABM82069,ABM85248 Hs.356572 GDB:134696 FTE1|MFTL|MGC23240 protein-coding 1351018 RPS3AP1 ribosomal protein S3A pseudogene 1 10830953 54023 NG_000904,AP001254,AP001679 GDB:10796436 RPS3AP pseudo 1353742 RPS3AP2 ribosomal protein S3A pseudogene 2 64725 GDB:11507759 1344214 RPS3AP3 ribosomal protein S3A pseudogene 3 140713 NG_000984,AL391114 GDB:11507761 bA332A4.2 pseudo 1345978 RPS3AP5 ribosomal protein S3A pseudogene 5 414231 1606710 RPS3AP6 ribosomal protein S3A pseudogene 6 145767 NG_004861,AC092079 RPS3A-like pseudo 1344634 RPS3L1 ribosomal protein S3-like 1, G1-phase expressed 8123253 6190 GDB:307860 1346563 RPS3P1 ribosomal protein S3 pseudogene 1 140754 NG_000997,AL117333 GDB:11507763 dJ631M13.3 pseudo 1352991 RPS3P2 ribosomal protein S3 pseudogene 2 140761 NG_001004,AL049868 GDB:11507765 dJ927M24.3 pseudo 1342924 RPS4L ribosomal protein S4-like 128580 NG_000967,AL137162 GDB:11507767 dJ843L14.2 pseudo 1346043 RPS4L2 ribosomal protein S4-like 2 92507 NG_000950,AL121916,AL133396 GDB:11507769 dJ189G13.2 pseudo 1353859 RPS4X ribosomal protein S4, X-linked Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 8358435,1795030,15189156,12588972,15883184,15489334,14702039,14660691,12477932,11790298,11721045,11401437,9582194,9373149,8808278,8722009,8706699,8557258,8139551,8125298,8076819,2829364,2124517 6191 AF041428,AL135749,CH471213,L24369,AK097914,AK222479,BC000472,BC007308,BC071662,BC100903,BC100904,BU192706,CR456735,CR595707,CR597791,CR601794,CR620411,CR623958,M22146,M58458,Z70767,NM_001007 NP_000998,AAB96968,EAW71815,EAW71816,EAW71817,AAN87119,BAD96199,AAH00472,AAH07308,AAH71662,AAI00904,AAI00905,CAG33016,AAA36597,AAA63255,CAA94808,P62701,Q53HV1,Q96IR1,ABM84522,ABM85850 Hs.446628 GDB:128115 CCG2|DXS306|FLJ40595|SCAR|SCR10 protein-coding 1344298 RPS4Y1 ribosomal protein S4, Y-linked 1 Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 2124517,15189156,12588972,15489334,14660691,14583743,7633446,8125298,12815422,12477932,12206807,11401437,9582194,9373149,8808278,8722009,8706699,8358435,8139551 6192 NM_001008,AC006040,AF041427,L24370,AI167386,AK222594,AK292819,BC010286,BC100905,BC100906,BF242790,CR591112,M58459 NP_000999,AAB96967,AAN87120,BAD96314,BAF85508,AAH10286,AAI00906,AAI00907,AAA63256,P22090,Q496E4,Q53HI6,ABM82523,ABM85717 Hs.282376 MGC119100|MGC5070|RPS4Y protein-coding 1353093 RPS4Y2 ribosomal protein S4, Y-linked 2 1580863 12815422 140032 NM_001039567,AC009494,AF497481 NP_001034656,AAM18074,Q8TD47 Hs.367761 GDB:11507771 RPS4Y2P protein-coding 736632 RPS5 ribosomal protein S5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1580863 7772601,15883184,15189156,12588972,17901157,15635413,15489334,12651107,12477932,11875025,11790298,11751223,9582194,9373149,8722009,8706699,8318536,8125298,7821789 6193 NM_001009,AB007149,AB061853,AC012313,CH471135,AK223106,BC015405,BC018151,CR614318,CR619033,CR625375,D28455,U14970,BC018828,BC035830,BG329390,BG687415,CR593754,CR605125,CR606098 NP_001000,BAA25815,BAB79493,EAW72581,EAW72582,EAW72583,BAD96826,AAH15405,AAH18151,BAA05821,AAA85658,P46782,Q53G25,ABM82710,ABM85894 Hs.378103 GDB:6282813 protein-coding 1344037 RPS5L ribosomal protein S5-like 10830953 54022 NG_000903,AP000302,AP001717 GDB:10796438 pseudo 1351508 RPS5P1 ribosomal protein S5 pseudogene 1 26516 NG_000896,AL050331 GDB:10795846 pseudo 1348953 RPS5P2 ribosomal protein S5 pseudogene 2 378816 735279 RPS6 ribosomal protein S6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 1301164,16314389,15883184,15189156,12588972,15809305,2334893,17726024,17081983,15489334,15477556,15121898,15051500,12820960,12477932,12045200,11790298,11438723,9582194,8722009,8706699,8500771,8440735,8076819,3279029,2840355,1985906,1837589,1712897,1446836,710442,12586835 6194 NM_001010,AL391834,CH471071,M77232,X67309,AB062123,AK291517,BC000524,BC009427,BC013296,BC027620,BC035447,BC071907,BC071908,BC094826,CR591028,CR591066,CR591444,CR591702,CR593216,CR596234,CR599051,CR599282,CR600766,CR600949,CR606554,CR606866,CR608904,CR611303,CR611834,CR612567,CR615680,CR622346,CR623758,CR624791,D28348,J03537,M20020 NP_001001,CAM21142,CAM21143,CAM21144,EAW58635,EAW58636,EAW58637,EAW58638,EAW58639,EAW58640,EAW58641,EAW58642,EAW58643,AAA60289,CAA47719,BAB93455,BAF84206,AAH00524,AAH09427,AAH13296,AAH27620,AAH71907,AAH71908,AAH94826,BAA05714,AAA60287,AAA60288,P62753,Q96DV6,ABM82670,ABM85951 Hs.408073 GDB:118869 protein-coding 732451 RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 12477932,12393804,12235136,12213813,12093745,12080086,12036856,12019261,11914378,11861786,11551945,11507039,11500364,11432835,11297520,11260258,11175347,11171059,11139588,10980595,16282323,9770464,8141249,16626623,18084084,17965187,17634259,17192257,17081983,16738324,16710414,16341674,16223362,16213824,15905173,15861136,15647351,15615708,15489334,15342917,15206906,15121878,15117958,15112576,15073170,15024086,14709557,14702039,12917364,12917345,12897128,12842905,12832467,12618428,12594221,12569367,10949026,10880354,10837486,10753652,10723127,10673502,10648825,10635333,10521512,10480933,10469565,10318869,9915826,9829964,9721103,9687510,9528769,9430688,9381178,9373149,9353277,9218456,9214631,9030586,8939914,8756728,8688081,8663493,8630373,8601309,8413226,8248197,8125298,1545828,1545823,16189514,12626518 6195 NM_002953,NM_001006665,AL109743,AL627313,CH471059,AK092955,AK225672,AK292722,BC014966,BC039069,BF982517,BM836865,L07597 NP_002944,NP_001006666,CAC36348,CAI14645,CAI14646,CAI14647,CAI14648,CAI14649,EAX07798,EAX07799,EAX07800,BAF85411,AAH14966,AAC82497,Q15418,ABM83168,ABM86369 Hs.149957 GDB:365638 HU-1|MAPKAPK1A|RSK|RSK1 s6 protein kinase (rsk-1) protein-coding 1348784 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9770464,7623830,8141249,16626623,17192257,16895915,16878154,16621805,15995633,15489334,15345747,15112576,14702039,14646589,14574404,12897128,12477932,12393804,12016217,11698596,11495723,11175347,10949026,10880354,10837486,10521512,10501965,10480933,9915826,9829964,9687510,9381178,8939914,8688081,8663493,1602151,8756728,12832467,9155018 6196 NM_001006932,NM_021135,AL022069,AL023775,AL159163,AX019387,CH471051,Z98049,AA588877,AB073884,AB209116,AF140710,AK027727,AK095751,BC002363,BC011189,BF205134,BF339000,BI836819,BQ029058,BU160797,BU617697,L07598,X85106 NP_001006933,NP_066958,CAI19650,CAI19651,CAC07738,EAW47522,EAW47523,EAW47524,CAI20579,BAD92353,AAH02363,AAC82496,CAA59427,Q15349,ABM82790,ABM85979 Hs.655277,Hs.709391 GDB:365645 HU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|pp90RSK3 protein-coding 1354498 RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). 1580863,1601643,1601644 9770464,8141249,10319851,10436156,8955270,16626623,18156174,17938253,17318637,17213202,17192257,17100996,17081983,16964243,16879200,16691578,16537434,16223362,15879597,15833840,15772651,15515167,15489334,15109498,14986828,14973203,14702039,14678837,12832467,12796492,12792428,12777533,12773393,12601080,12562765,12477932,12439904,12393804,12387894,12054624,11992250,11896450,11853558,11752456,11564891,11544290,11507039,11495723,11438671,11432835,11311121,11297520,11181841,11175347,11160957,11139588,10862698,10856237,10739259,10528858,10480933,10094187,9915826,9887375,9837815,9832145,9829964,9687510,9546672,9528769,9353289,8688081,7943043,7813820,7623830,7566098,7523419,1374067,15861136,15919995 1601643,1601644 6197 AB102378,AB102379,AB102380,AB102381,AB102382,AB102383,AB102384,AB102385,AB102386,AB102387,AB102388,AB102389,AB102390,AL732366,AL807772,AA317826,AA858312,AB102662,AB208933,AK022869,AV684171,BC015451,BC096301,BC096302,BC096303,BQ427696,BU618685,CA843287,CA843526,CK905714,L07599,U08316,W00439,AB102323,AB102324,AB102325,AB102326,AB102327,AB102328,AB102329,AB102330,AB102371,AB102372,AB102373,AB102374,AB102375,AB102376,AB102377,NG_007488,AB102311,AB102312,AB102313,AB102314,AB102315,AB102316,AB102317,AB102318,AB102319,AB102320,AB102321,AB102322,NM_004586 BAC80876,BAC80877,BAC80878,BAC80879,BAC80880,BAC80881,BAC80882,BAC80883,BAC80884,BAC80885,BAC80886,BAC80887,BAC80888,BAC80889,CAI40548,CAI39684,CAI39686,CAI39687,BAC81131,BAD92170,AAH96301,AAH96302,AAH96303,AAC82495,AAA81952,P51812,Q5JPK9,Q7Z2J3,Q7Z2J4,BAC80821,BAC80822,BAC80823,BAC80824,BAC80825,BAC80826,BAC80827,BAC80828,BAC80829,BAC80870,BAC80871,BAC80872,BAC80873,BAC80874,BAC80875,NP_004577,BAC80810,BAC80811,BAC80812,BAC80813,BAC80814,BAC80815,BAC80816,BAC80817,BAC80818,BAC80819,BAC80820 Hs.445387 GDB:119784,GDB:365648 CLS|HU-3|ISPK-1|MAPKAPK1B|MRX19|RSK|RSK2|S6K-alpha3|p90-RSK2|pp90RSK2 protein-coding 1316377 RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and c-fos. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863 9792677,11035004,17495961,17192257,12773393,12477932,11909979,11438671,11175347,10806207,9921902,9829964,9687510,9373149,8688081,8125298 8986 NM_003942,NM_001006944,AP003774,CH471076,AF074715,AJ010119,AK223561,AK292163,BC020451,BC028079,BC047896,BI523588 NP_003933,NP_001006945,EAW74260,EAW74261,EAW74262,EAW74263,AAC67395,CAA09009,BAD97281,BAF84852,AAH28079,AAH47896,O75676,Q86VU2 Hs.105584 GDB:9958979 MSK2|RSK-B protein-coding 1318046 RPS6KA5 ribosomal protein S6 kinase, 90kDa, polypeptide 5 9687510,12628924,9873047,17495961,17117922,16762916,16543895,16532028,16223362,15568999,15489334,15302935,15133024,15010469,14963018,14578350,14551213,12807421,12773393,12763138,12690113,12576423,12569367,12477932,12421349,11994045,11909979,11777913,11350938,11297520,11018520,10978317,10880354,10702687,10635333,10521505,10469656,9872331,9343414,15797222 9252 NM_004755,NM_182398,AL121784,AL133454,AL159191,CH471061,AF074393,AF080000,AF090421,AL050099,BC017187,BF593074,BG699153 NP_004746,NP_872198,EAW81439,EAW81440,AAC31171,AAD23915,AAC69577,CAB43270,AAH17187,O75582,Q9UG98 Hs.510225 GDB:9958935 MGC1911|MSK1|MSPK1|RLPK protein-coding 1350176 RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 1580863 10644430,17314274,16865262,15772651,15632195 27330 NM_014496,AC003001,AL022160,AL035552,AL121867,AL354653,AL389887,AL450471,AL590228,AL593849,AL603626,CH471104,CS172421,AF184965,CR536566 NP_055311,EAW98575,CAJ32899,AAF13190,CAG38803,Q9UK32,AAI46381,AAI48803 Hs.368153 GDB:10796055 RSK4 protein-coding 731644 RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates several residues of the S6 ribosomal protein. The kinase activity of this protein leads to an increase in protein synthesis and cell proliferation. Amplification of the region of DNA encoding this gene and overexpression of this kinase are seen in some breast cancer cell lines. Alternate translational start sites have been described and alternate transcriptional splice variants have been observed but have not been thoroughly characterized. 1625616,1580863,1642984,1643028,1642977,1642978,1642998 11853558,11516946,11500364,11438723,11297520,11171059,11013237,10973943,10601311,10197603,9804755,9653190,9445476,9427642,9271440,8871403,10807185,10089566,15854902,12019261,11914378,18025271,17936702,17908691,17622239,17616691,17604271,17599906,17569770,17427199,17336708,17255101,1922062,15314020,15809305,17081983,17053147,17052453,17045920,16964243,16962100,16914728,16883576,16839745,16826166,16818690,16715128,16469801,16434552,16407298,16286006,16262259,16049009,15953364,15899889,15843522,15812314,15790787,15723049,15696579,15692808,15659381,15623621,15589845,15533996,15474452,15342556,15341740,15319361,15304500,15236312,15203190,15158097,15071500,15028555,15024086,14709557,14702039,12869548,12801526,12759354,12747804,12733712,12586835,12477932,12054624,12052877,12023960,18423201 1625616,1642984,1643028,1642977,1642978,1642998 6198 NM_003161,AC004686,CH471109,AA424792,AI806441,AK026730,AK091503,BC030763,BC036033,BC053365,BG614269,BP359158,BQ719717,CA444907,CB050838,CR604237,M60724,M60725 NP_003152,EAW94382,EAW94383,EAW94384,AAH36033,AAH53365,AAA36410,AAA36411,P23443,Q4G0X7,Q7Z721 Hs.463642 GDB:365650 PS6K|S6K|S6K1|STK14A|p70(S6K)-alpha|p70-S6K|p70-alpha s6 kinase protein-coding 1313003 RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates the S6 ribosomal protein and eucaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. 1625616,1580863 9878560,9804755,10490848,17786541,17081983,15489334,15071500,15051500,14729629,12875979,12818373,12713446,12569102,12529391,12477932,12176053,12087098,11753643,11733037,11108720,11108711,10490847 1625616 6199 NM_003952,AP003419,CH471076,AB016869,AB019245,AB208827,AF076931,AF099739,BC000094,BC006106,BC136564,BX337895,BX538119,CR593441,CR593942,CR597985,CR599694,CR602192,CR604258,CR604667,CR605830,CR611291,CR612509,CR613481,CR616474,CR618047,CR622329,CR622954 NP_003943,EAW74618,EAW74619,EAW74620,EAW74621,BAA34402,BAA37145,BAD92064,AAD46063,AAD20990,AAH00094,AAH06106,AAI36565,Q59HD2,Q9BRS0,Q9UBS0 Hs.534345 GDB:369080 KLS|P70-beta|P70-beta-1|P70-beta-2|S6K-beta2|S6K2|SRK|STK14B|p70(S6K)-beta|p70S6Kb protein-coding 1348524 RPS6KB3 ribosomal protein S6 kinase, 70kDa, polypeptide 3 6200 GDB:369083 1315275 RPS6KC1 ribosomal protein S6 kinase, 52kDa, polypeptide 1 14667819,10552933,17081983,16710414,15750338,15489334,14702039,12477932,12077123 26750 NM_012424,AL512449,AL583826,AL645860,CH471100,AB070706,AF037447,AF477978,AK122921,AK122989,AL356893,BC036779,BC104769,BX647303 NP_036556,CAH70703,CAH70704,EAW93362,EAW93363,EAW93364,BAB63956,AAF13027,AAL84818,CAB92850,AAI04770,Q5VUN8,Q96S38 Hs.591416 GDB:10795848 RPK118|humS6PKh1 protein-coding 1319861 RPS6KL1 ribosomal protein S6 kinase-like 1 1580863 15489334,14702039,12508121,12477932 83694 NM_031464,AC006530,CH471061,AK054800,AK093053,AK131532,AK226137,AL390152,BC004540,BC036574 NP_113652,AAD30182,EAW81203,EAW81204,EAW81205,EAW81206,BAB70808,BAD18669,CAH10661,AAH04540,Q9Y6S9,ABM83938,ABW03554 Hs.414481 FLJ35734|MGC11287 protein-coding 1602393 RPS6P1 ribosomal protein S6 pseudogene 1 12477932 440086 XR_016837,XR_039076,XR_019643 pseudo 1348295 RPS7 ribosomal protein S7 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 9582194,8722009,8706699,8318536,8522193,11823430,15883184,15189156,12588972,17310983,16582619,15489334,14702039,12477932,10625621,9687515 6201 AC108488,CH471053,Z25749,AB209386,AF085824,AK092027,BC002866,BC061901,BC071919,BG615667,CR598181,CR600310,CR604018,CR611842,CR620103,CR624620,M77233,X74803,NM_001011 NP_001002,AAX82027,EAX01056,EAX01057,EAX01058,EAX01059,CAA81022,BAD92623,AAH02866,AAH61901,AAH71919,AAB00969,P62081,Q57Z92,ABM83911,ABM87233 Hs.534346,Hs.546287,Hs.646582 GDB:1313709 protein-coding 1344088 RPS7P1 ribosomal protein S7 pseudogene 1 388363 NG_005669,AC015917 pseudo 731589 RPS8 ribosomal protein S8 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. 12477932,11790298,9582194,8764399,8722009,8706699,1712897,15616584,8432552,17220478,15883184,15189156,12588972,15635413,15489334 6202 AL592166,CH471059,X67247,Z58668,Z61049,AB062401,AF116700,BC005678,BC022070,BC070875,CR605896,CR612286,CR614840,CR623636,NM_001012 NP_001003,CAI13002,CAI13003,EAX07023,EAX07024,CAA47670,BAB93488,AAF71120,AAH05678,AAH70875,P62241,Q5JR94,Q5JR95,Q9BS10,Q9P1D6 Hs.512675 GDB:133718 protein-coding 1345119 RPS8P1 ribosomal protein S8 pseudogene 1 9841928 326324 NG_002574,AB019441 pseudo 1351567 RPS8P3 ribosomal protein S8 pseudogene 3 387611 1348940 RPS8P4 ribosomal protein S8 pseudogene 4 414147 734165 RPS9 ribosomal protein S9 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. 1580863 17220478,17353931,15883184,15189156,12588972,15635413,15489334,14702039,12565890,12477932,11875025,11790298,11751223,11044901,9582194,8722009,8706699,8318536,7772601 6203 NM_001013,AB007150,AB061839,AC012314,CH471135,CU151838,CU457734,AB055775,AK095055,BC000802,BC007410,BC007434,BC007857,BC020462,BC050660,BC058892,BC068055,BC071940,BC071941,BC096756,BC096822,BC141920,CR593663,CR600860,CR602785,CR605701,CR606612,CR608771,CR613055,CR616829,CR617140,CR621838,CR624355,CR624556,U14971 NP_001004,BAA25816,BAB79477,EAW72209,EAW72210,EAW72211,EAW72212,EAW72213,EAW72214,EAW72215,CAQ09597,CAP19125,BAB62869,AAH00802,AAH07410,AAH07434,AAH07857,AAH68055,AAH71940,AAH96756,AAI41921,AAA85659,P46781,ABM82126,ABM85309 Hs.467284,Hs.546288 GDB:6282960 protein-coding 1349919 RPS9P1 ribosomal protein S9 pseudogene 1 10830953,9740676 8410 NG_003259,AP000689,AP001725 GDB:9786192 RPS9P pseudo 1352180 RPS9P2 ribosomal protein S9 pseudogene 2 267009 NG_002404,AL080243 GDB:11510890 bA12M9.1 pseudo 1344885 RPSA ribosomal protein SA Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 2970671,15189156,16130169,12588972,18079119,17535553,16973587,16889749,16759641,16431845,16236267,16189514,15922307,15635413,15592455,15516338,15489334,15246873,11054877,15158907,14730304,14702039,14614142,12875970,12477932,12440778,12386810,11790298,11752855,11720479,10683318,10477615,10079194,9732225,9582194,9218732,8985115,8760291,8706699,8586453,2970639,2543954,2429301,1534510,11067943 3921 NM_001012321,NM_002295,AB007146,AC099332,CH471055,U36484,U43901,AF503367,AJ572067,AK055991,BC005391,BC008867,BC010054,BC010418,BC013827,BC018867,BC034537,BC050688,BC053370,BC062714,BC066941,BC068062,BC070263,BC071693,BC071968,BC071969,BC071970,BC073863,BC107567,BT007219,BU932677,CR590550,CR593226,CR593481,CR594860,CR595716,CR596726,CR599598,CR599703,CR600444,CR601130,CR604608,CR605409,CR608117,CR608169,CR608513,CR609304,CR609795,CR610460,CR611471,CR611940,CR612030,CR612802,CR614112,CR614218,CR614557,CR614827,CR615235,CR616655,CR618689,CR618995,CR620609,CR622070,CR623213,CR623621,CR624266,CR624384,CR625028,CR625327,CR626298,CR626563,J03799,M14199,S37431,X15005,X61156 NP_001012321,NP_002286,BAA25812,EAW64582,EAW64583,EAW64584,EAW64585,EAW64586,EAW64587,AAC50313,AAC50652,AAM33304,AAH05391,AAH08867,AAH10418,AAH13827,AAH34537,AAH50688,AAH53370,AAH62714,AAH66941,AAH68062,AAH70263,AAH71693,AAH71968,AAH71969,AAH71970,AAH73863,AAI07568,AAP35883,AAA36161,AAA36165,AAB22299,CAA33112,CAA43469,P08865,Q9P1B9,ABM82072,ABM85252 Hs.449909 GDB:132361 37LRP|67LR|LAMBR|LAMR1|LRP|p40 protein-coding 1346846 RPSAP1 ribosomal protein SA pseudogene 1 170529 NG_001045,AL121915 GDB:11506193 LAMR1P|LAMR1P1|dJ1193N1.1 laminin receptor 1 pseudogene 1 pseudo 1601682 RPSAP10 ribosomal protein SA pseudogene 10 401638 XR_017313,XR_019235 Hs.646743 LAMR1P10 pseudo 1349064 RPSAP11 ribosomal protein SA pseudogene 11 18063583,1649122 645326 NG_006441,AC097639 LAMR|LAMR1P11|LAMRL1|LAMRP1 pseudo 1344977 RPSAP14 ribosomal protein SA pseudogene 14 8401491,1649122 3924 NG_004075,AL139400,L15458 LAMR1P14|LAMRL4|LAMRP4 laminin receptor 1 pseudogene 14 pseudo 1354419 RPSAP15 ribosomal protein SA pseudogene 15 1580863 9461426 220885 AF284768 AAK69721,Q96RS2 Hs.496451 LAMR1P15|LAMRL5 pseudo 1352096 RPSAP3 ribosomal protein SA pseudogene 3 158674 NG_002489,AC008050 LAMR1P3 laminin receptor 1 pseudogene 3 pseudo 1344780 RPSAP4 ribosomal protein SA pseudogene 4 15014966 145259 NG_002486,AL049839 LAMR1P4 laminin receptor 1 pseudogene 4 pseudo 1348252 RPSAP5 ribosomal protein SA pseudogene 5 319129 NG_002507,AL133367 LAMR1P5 laminin receptor 1 pseudogene 5 pseudo 2291765 RPSAP7 ribosomal protein SA pseudogene 7 654506 NG_007324,AC069544 LAMR1P7 pseudo 2292092 RPSAP8 ribosomal protein SA pseudogene 8 643617 NG_007295,AL359641 LAMR1P8 pseudo 1605586 RPTN repetin 15854042,14702039,12477932 126638 BC112218,XM_001724407,XM_937200,XM_001721513,NM_001122965,AL589986,AY219924,CH471121,AK096436,AY396742,BC112216 Q8N1M7,AAI12219,Q2M1U5,Q2M1U7,Q6XPR3,XP_001724459,XP_942293,XP_001721565,NP_001116437,AAP48705,EAW53388,BAC04789,AAR91620,AAI12217 Hs.376144 FLJ39117 protein-coding 1344939 RPUSD1 RNA pseudouridylate synthase domain containing 1 12477932,11157797 113000 NM_058192,AE006465,AL031033,CH471112,BC011783,BC012951,BC036279,BG686882,BM763460,CB529100,CR593558,CR595179,CR599759,CR604984,CR605414,CR610455,CR610459,CR611036,CR612793,CR623234,CR625931 NP_478072,AAK61255,CAB53055,EAW85712,EAW85713,EAW85714,EAW85715,AAH11783,AAH12951,Q96E34,Q9UJJ7,ABM83844,ABM87166 Hs.101742 GDB:11504901 C16orf40|MGC19600|RLUCL protein-coding 1343031 RPUSD2 RNA pseudouridylate synthase domain containing 2 737633 14702039,12477932 737633 27079 NM_152260,AC091045,CH471125,U67934,AK055971,BC007697,BC016967,CR597785,CR608473,CR624718 NP_689473,EAW92428,AAB07777,BAB71059,AAH07697,AAH16967,Q8IZ73 Hs.173311 C15orf19|C18B11|FLJ31409 protein-coding 1351633 RPUSD3 RNA pseudouridylate synthase domain containing 3 737633 14702039,12477932 737633 285367 BC032135,BC049846,BC062362,BC065741,CR618540,NM_173659,AC018809,CH471055,AK092026,AK093620,AK291888 BAF84577,AAH32135,AAH62362,AAH65741,Q6P087,NP_775930,EAW64006,EAW64007,EAW64008,EAW64009,BAC03794 Hs.33719 FLJ34707|MGC29784 protein-coding 1345355 RPUSD4 RNA pseudouridylate synthase domain containing 4 14702039,12477932,9373149 84881 AK027400,AK225320,BC014131,CR608864,NM_032795,AP001893,CH471065 EAW67675,EAW67676,BAB55086,AAH14131,Q96CM3,NP_116184 Hs.696261 FLJ14494 protein-coding 1322982 RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe) 1580863 9447985,18180299,12477932,12356739 9125 NM_005444,AC012510,CH471063,D87957,BC007102 NP_005435,EAW70624,EAW70625,BAA13508,AAH07102,Q92600 Hs.148767 GDB:9955077 CNOT9|RCD1|RCD1+ protein-coding 736416 RRAD Ras-related associated with diabetes 1580863 8248782,18056528,17672918,17525370,17195088,16866878,16511212,15489334,12477932,11280768,10611312,10441394,9677319,9115241,8798502,8781531,8557685,7876254,7859947 6236 NM_004165,AC009084,CH471092,U46165,AK290613,BC011645,BC057815,L24564 NP_004156,EAW83053,EAW83054,EAW83055,AAB17064,BAF83302,AAH11645,AAH57815,AAA36540,P55042,Q92788,ABM82877,ABM86063 Hs.1027 GDB:252846 RAD|RAD1|REM3 protein-coding 1349440 RRAGA Ras-related GTP binding A 633888 7499430,14660641,8995684,11073942,9394008,15489334,15164053,12477932,16189514 633888 10670 AL356000,CH471071,BC006433,BC009990,BX346838,BX442654,CR591467,CR592193,CR594384,CR594824,CR596958,CR598267,CR598303,CR598727,CR601089,CR602605,CR602626,CR602698,CR602736,CR608617,CR610370,CR610906,CR611753,CR612004,CR615353,CR617628,CR623089,CR623775,CR626021,CR626147,CR626305,NM_006570,CR626633,U41654,X90529 NP_006561,CAH72136,EAW58653,AAH06433,AAH09990,AAB63255,CAA62131,Q7L523 Hs.432330 FIP-1|RAGA protein-coding 1350224 RRAGAP Ras-related GTP binding A pseudogene 12508121 387488 1343212 RRAGB Ras-related GTP binding B Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular switches that are operated by GTP-exchange factors and factors that stimulate their intrinsic GTPase activity. All GTPases of the Ras superfamily have in common the presence of six conserved motifs involved in GTP/GDP binding, three of which are phosphate-/magnesium-binding sites (PM1-PM3) and three of which are guanine nucleotide-binding sites (G1-G3). Transcript variants encoding distinct isoforms have been identified. 633888 7499430,11073942,9394008,15772651,15489334,12766061,12477932 633888 10325 NM_016656,NM_006064,AL139277,AL159987,CH471154,AK289407,AL831926,BC034726,BX641797,CD676755,X90530 NP_057740,NP_006055,CAH70826,CAH70827,CAH70828,EAW93227,EAW93228,EAW93229,BAF82096,CAD38586,AAH34726,CAA62132,Q5VZM0,Q5VZM2 Hs.50282 RAGB|bA465E19.1 protein-coding 1323384 RRAGC Ras-related GTP binding C RRAGC is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM] 11073942,14660641,16710414,15489334,14702039,12477932,11145883,16189514 64121 NM_022157,AL139260,CH471059,AF272035,AF323609,AK023373,BC016668 NP_071440,CAI23049,EAX07293,EAX07294,AAG32662,AAG45221,BAB14548,AAH16668,Q9HB90,ABM82660,ABM85837 Hs.532461 FLJ13311|GTR2|RAGC protein-coding 1320660 RRAGD Ras-related GTP binding D RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM] 1580863 14660641,11073942,15489334,14574404,12477932,16189514 58528 NM_021244,AL138717,CH471051,AF272036,AK289799,AL137502,BC003088,CR597649,CR602554,CR614317,CR624974 NP_067067,CAB99361,CAB99362,EAW48554,AAG32663,BAF82488,CAB70775,AAH03088,Q9NQL2 Hs.485938 DKFZP761H171|RAGD|bA11D8.2.1 protein-coding 1322910 RRAS related RAS viral (r-ras) oncogene homolog 1580863 3098437,17664272,17107957,16914723,16754664,16537651,15525681,15489334,15297673,15242332,15031288,12890755,12548599,12529399,12477932,12386818,11857081,11560935,11042683,10848612,10777492,10713701,10671570,10570155,10412982,10224125,8232588,7809086,7761092,12620389 6237 NM_006270,AC011495,CH471177,M14949,AF493920,BC016286,BC016318,BT006805,CR541944,CR541967,CR626325 NP_006261,EAW52506,EAW52507,AAA60256,AAM12634,AAH16286,AAH16318,AAP35451,CAG46742,CAG46765,P10301,Q6FH12,ABM81656,ABM83354,ABM86568 Hs.515536 GDB:120356 protein-coding 1321899 RRAS2 related RAS viral (r-ras) oncogene homolog 2 10777492,12620389,17656362,17081983,15761153,15489334,15342556,15308774,15031288,12477932,12384139,11857081,11850823,11788587,11335720,10557073,10498616,10224125,10064593,8052619,2108320,16189514 22800 NM_012250,NM_001102669,AC011084,CH471064,AF493924,BC013106,BP206021,BX324335,CB961515,CR592913,DC368033,M31468 NP_036382,NP_001096139,EAW68486,EAW68487,AAM12638,AAH13106,AAA36545,P62070 Hs.502004 GDB:5573831 TC21 protein-coding 1315209 RRBP1 ribosome binding protein 1 homolog 180kDa (dog) Analysis of cDNA clones indicates that ribosome binding protein 1 may exist in different forms due to removal of tandem repeats, or partial intraexonic splicing of RRBP1. The form presented here is lacking the canine p180 ribosome-binding domain, NQGKKAEGAQ, which is tandemly repeated close to the N-terminus in other forms that haven't been fully characterized. RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome. Alternate splicing results in multiple transcript variants. 1580863 9628588,17634287,17081983,16964243,15489334,15302935,15231748,15184079,14702039,12477932,12168954,11780052,10718198,8812507,2165568,17353931 6238 NM_004587,NM_001042576,AL132765,CH471133,AB037819,AB287347,AF006751,AF007575,AK093465,AK098319,AL833822,BC000099,BC009700,BC020482,BC080526,BC108741,BC128577,BC128578 NP_004578,NP_001036041,CAH74034,EAX10273,BAA92636,BAF73807,AAC25977,AAC25978,CAD38684,AAH00099,AAH09700,AAI08742,AAI28578,AAI28579,Q05DK7,Q32NB1,Q9P2E9 Hs.472213 GDB:9837223 DKFZp586A1420|ES/130|ES130|FLJ36146|MGC157720|MGC157721|hES protein-coding 1322078 RREB1 ras responsive element binding protein 1 1580863 12477932,9305772,8816445,15302935,15067362,14702039,12700765,12700664,10390538,9367691,12482979 6239 NM_001003699,NM_001003698,NM_002955,AL139095,AL355336,AL589644,CH471087,AB019254,AB019351,AB019352,AF072825,AF072826,AK022160,AK022442,BC032062,BC111386,BC131599,BX647723,D49835,U26914,BC042910 NP_001003699,NP_001003698,NP_002946,CAI16450,CAH73521,CAI14574,EAW55198,EAW55199,EAW55200,BAD32776,BAD32778,BAD32779,AAC25598,AAC26118,AAH42910,AAI31600,BAA23165,AAB19094,Q92766 Hs.708056 GDB:6474631 FINB|LZ321|RREB-1|Zep-1 protein-coding 1319017 RRH retinal pigment epithelium-derived rhodopsin homolog Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes opsin 5 and retinal G protein coupled receptor. 1580863 9275222,17167409,15761153,12542842,11329013 10692 NM_006583,AC126283,BK000958,CH471057,AF012270,BC128120,BC128121,BC128401,BG189259 NP_006574,DAA00976,EAX06255,AAC51757,AAI28121,AAI28122,AAI28402,O14718 Hs.658310 GDB:9958148 protein-coding 737409 RRM1 ribonucleotide reductase M1 This gene encodes one of two non-identical subunits that constitute ribonucleoside-diphosphate reductase, an enzyme essential for the production of deoxyribonucleotides prior to DNA synthesis in S phase of dividing cells. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region. 1580863 11517226,18483375,17602053,17486094,17131328,17065054,17064812,16966686,16481328,16476973,16376858,15489334,15342556,15324660,15277258,15172981,14729598,14702039,14583450,12789263,12687015,12615712,12578384,12477932,11781084,10441745,9933563,9373149,8386696,8188248,8125298,7557993,3891388,3275546,3044582,1840662,1677928,1627826,16189514 6240 NM_001033,AC015689,AF107045,AF391285,CH471158,L10342,X65708,AK222786,BC006498,BP229960,BQ775841,CR619525,CR622023,X59543,X59617 NP_001024,AAD37491,EAX02583,BAD96506,AAH06498,CAA42118,CAA42180,P23921,Q53GZ5,ABM83954,ABM87271 Hs.558393 GDB:120357 R1|RIR1|RR1 ribonucleotide reductase M1 polypeptide|ribonucleotide reductase m1 protein-coding 736125 RRM2 ribonucleotide reductase M2 polypeptide Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. It is composed of 2 non-identical subunits, proteins M1 and M2. Synthesis of M2 is regulated in a cell-cycle dependent fashion. 1580863 1627826,11517226,17486094,17222798,16964243,16376858,15815621,15489334,15096505,14729598,14702039,14661056,14583450,12694192,12655059,12615712,12477932,11978970,11978967,11781084,10631117,9990288,7937751,3311968,16189514 6241 NM_001034,AC104794,AC118058,AF149206,AY032750,AK092671,AK123010,BC001886,BC028932,BC030154,CR590959,CR596700,CR602054,CR602150,CR603461,CR603569,CR604378,CR608076,CR609838,CR614990,CR618451,CR621427,CR625440,CR625489,S40301,X59618 NP_001025,AAX93099,AAD53261,AAK51163,AAH01886,AAH28932,AAH30154,AAA09577,CAA42181,P31350,Q8N6S3,Q9UKM0,ABM82789,ABM85978 Hs.226390 GDB:120358 R2|RR2M ribonucleotide reductase m2 protein-coding 1314438 RRM2B ribonucleotide reductase M2 B (TP53 inducible) 1580863 17671702,17486094,16872707,16846634,16778101,16407418,16376858,16236544,16127747,15489334,14729598,14702039,14583450,12615712,12565178,12477932,11719458,11517226,10980602,10716435,15856024 50484 AB036063,AB163437,AB163438,AB166670,AB166671,AK001965,AK023605,AL137348,BC042468,BC042948,BC108261,BC117496,BC130628,BX509409,CR617553,CR627376,NM_015713,AB036532,AP001328,AP002907,CH471060,DQ027001 BAA92434,BAD11774,BAD11775,BAD12266,BAD12267,BAA92005,CAB70703,AAH42468,AAI08262,AAI17497,AAI30629,CAH10473,Q6AI41,Q7LG56,NP_056528,BAA92493,EAW91840,EAW91841,EAW91842,AAY29059 Hs.512592 GDB:11507773 DKFZp686M05248|MGC102856|MGC42116|p53R2 protein-coding 1344712 RRM2P1 ribonucleotide reductase M2 polypeptide pseudogene 1 6243 GDB:119577 1346940 RRM2P2 ribonucleotide reductase M2 polypeptide pseudogene 2 6244 GDB:119578 1346765 RRM2P3 ribonucleotide reductase M2 polypeptide pseudogene 3 9847074,3311968 6245 NG_000870,AC018719,AL133344 GDB:119579 pseudo 1349541 RRM2P4 ribonucleotide reductase M2 polypeptide pseudogene 4 3311968 6246 NG_000871,AL049588 GDB:119580 pseudo 1347637 RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 10758157,12393749,12646563,18047649,15489334,15004009,12620228,12477932,11265758,11250903,9373149,8889548,8125298,15558034 54700 AF227156,AJ272050,AK225662,AL110238,BC036182,BC071868,BC104660,BC132688,BC132690,BU676519,NM_018427,AC139256,CH471301 AAF66160,EAW54754,CAC07955,AAH71868,AAI04661,AAI32689,AAI32691,O75703,Q3MHU9,Q7L4D9,Q9NYV6,NP_060897 Hs.460078 DKFZp566E104|MGC104238|TIFIA rrn3 rna polymerase i transcription factor homolog (yeast) protein-coding 1605116 RRP1 ribosomal RNA processing 1 homolog (S. cerevisiae) The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. 16780588,9192856,16344560,15489334,12477932,12429849,12209604,11790298,10830953,10341208,9373149,8125298 8568 NM_003683,AP001053,AP001752,CH471079,AI634547,AK223185,AK223215,AL137757,AY033999,BC000380,BC014787,BG829556,BI223794,CR594938,CR598523,CR601038,CR603071,CR603110,CR615660,CR620655,CR624766,DA275615,U79775 NP_003674,BAA95542,EAX09470,EAX09471,EAX09472,BAD96905,BAD96935,CAB70909,AAK57542,AAH00380,AAH14787,AAC51625,P56182,Q53FR7,Q6PJJ2,Q96J73,ABM82317,ABM85493 Hs.110757 D21S2056E|NNP-1|NOP52|RRP1A protein-coding 1343951 RRP12 ribosomal RNA processing 12 homolog (S. cerevisiae) 737633 17081983,16964243,16565220,15635413,15489334,15302935,15164054,14702039,12477932,12429849,12421765,11790298,9734811,17353931,14743216 737633 23223 NM_015179,AL355490,CH471066,AB014590,AK000238,AK021460,AK022496,AK056614,AK131283,AL832924,BC002621,BC012745,BC042908 NP_055994,CAI40776,CAI40777,EAW49946,EAW49947,EAW49948,BAA31665,CAH10606,AAH02621,AAH12745,Q5JTH9 Hs.434251 GDB:9955398 DKFZp762P1116|FLJ20231|KIAA0690 protein-coding 1606298 RRP15 ribosomal RNA processing 15 homolog (S. cerevisiae) This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. 17353931,15769876,15489334,15302935,12477932,11790298,10810093,9455484 51018 NM_016052,AC096638,AC099337,CH471100,AB007976,AF151873,AK290066,AW029169,BC003668,BC020641,BF242786,CR591830,CR622638 NP_057136,EAW93329,AAD34110,BAF82755,AAH03668,AAH20641,Q9Y3B9 Hs.660109 CGI-115|KIAA0507|MGC22291 protein-coding 1313777 RRP1B ribosomal RNA processing 1 homolog B (S. cerevisiae) 1580863 15231747,16780588,18081427,17081983,16964243,16565220,15635413,15489334,14702039,12477932,12429849,11790298,8724849 23076 NM_015056,AP001052,CH471079,AK056263,AK124620,BC014005,BC028386,BE544027,BX479134,CR601179,CR605276,D80001 NP_055871,EAX09480,EAX09481,EAX09482,EAX09483,AAH14005,AAH28386,BAA11496,Q14684,Q6PJM8 Hs.654727 GDB:9785054 KIAA0179|NNP1L|Nnp1|RRP1 protein-coding 1317332 RRP9 ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 9418896,17081983,15761153,15635413,15489334,12477932,12429849,12381732,12032086,11790298,10982864,15574333 9136 NM_004704,AC115284,CH471055,AJ001340,BC001113,BC009879,BC010048,BC021032,BC023662,CR598977,CR609263,CR618123 NP_004695,EAW65159,CAA04687,AAH01113,AAH09879,AAH10048,AAH23662,O43818,ABM86728,ABW03815 Hs.153768 RNU3IP2|U3-55K RRP9, small subunit (SSU) processome component, homolog (yeast)|rna, u3 small nucleolar interacting protein 2 protein-coding 1322847 RRS1 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 1580863 16189514,15635413,15489334,12477932,12429849,11790298,10688653,7788527 23212 NM_015169,AC009879,CH471068,AK024716,BC001811,BC013043,CR592451,CR607844,CR622558,CR625499,D25218 NP_055984,EAW86900,AAH01811,AAH13043,BAA04948,Q15050,ABM83698,ABW03546 Hs.71827 KIAA0112 protein-coding 1347162 RS1 retinoschisis (X-linked, juvenile) 1 1600147,1600148,1580863 9326935,10915776,17852193,17804407,17631851,17615541,17515881,17296904,17295148,10533068,10450864,10234514,10220153,10079181,9760195,8889548,2032721,17286855,17172462,17093404,17031297,16768192,15772651,15644328,15531314,15281981,14986011,12967815,12920343,12782284,12746437,12457918,12417531,12383832,12107411,12055472,11983912 1600147,1600148 6247 NM_000330,AF018963,CH471074,AF014459,AL049684,BQ185379,BQ636812,DQ426892 NP_000321,AAC18405,EAW98942,AAC17928,ABD90543,O15537,Q0QD39,AAI40344,AAI41639 Hs.584800 GDB:119581 RS|XLRS1 protein-coding 1347932 RSAD1 radical S-adenosyl methionine domain containing 1 737633 14702039,12477932,9373149 737633 55316 NM_018346,AC021491,CH471109,AK002026,AK022105,AK024628,AK222472,BC005854,BC050538,CR621437 NP_060816,EAW94610,BAA92043,BAB13962,BAD96192,AAH05854,AAH50538,Q9HA92 Hs.8033 FLJ11164|FLJ20975 protein-coding 1345303 RSAD2 radical S-adenosyl methionine domain containing 2 737633,1580863 17626075,16849320,16108059,15890971,12477932,11752458,9391139 737633 91543 NM_080657,AC017076,CH471053,AF026941,AF026942,AF442151,BC017969,CR598269,CR601894 ABM82903,ABM86094,NP_542388,AAY14802,EAX01034,EAX01035,AAL50053,AAH17969,Q8WVI4,Q8WXG1 Hs.17518 2510004L01Rik|cig33|cig5|vig1 protein-coding 1347428 RSBN1 round spermatid basic protein 1 737633 18305142,14724137,14702039,12477932,8889549 737633 54665 NM_018364,AL137856,AL365321,CH471122,AA682921,AK002082,AK022166,AK292552,AL050064,BC026155,BQ062524,BX478083,CR627402,N66761 NP_060834,CAI19067,CAH72507,EAW56570,EAW56571,EAW56572,BAA92075,BAB13974,BAF85241,AAH26155,CAH10493,Q5VWQ0 Hs.486285 DKFZp781E21150|ROSBIN|RP11-324J2.1 protein-coding 1351057 RSBN1L round spermatid basic protein 1-like 737633 16344560,15146197,12690205,12477932 737633 222194 NM_198467,AC004955,CH236949,CH471091,AK124517,AK127713,BC046193,BC046353,BC059402,CN311934,CR592968,CR620544,CR623998,DA097202 NP_940869,EAL24197,EAW77033,BAC85872,BAC87096,AAH46353,AAH59402,Q6PCB5 Hs.592289 FLJ42526|FLJ45813|MGC71764 protein-coding 1349878 RSC1A1 regulatory solute carrier protein, family 1, member 1 1580863 8836035,2675563,17686765,16788147,16788146,14724758,14702039,11018680 6248 NM_006511,AL121992,CH471167,X82877,AF147408,AL832414 NP_006502,CAI95731,EAW51744,CAA58058,Q92681,AAI52938 Hs.145049,Hs.657818 GDB:1220262 RS1 protein-coding 1322599 RSF1 remodeling and spacing factor 1 HBXAP is involved in transcription repression, transcription coactivation when associated with hepatitis B virus X protein (HBX), and chromatin remodeling and spacing when associated with SNF2H (MIM 603375).[supplied by OMIM] 1580863 12972596,11788598,11944984,9836642,18314909,18289639,17081983,16964243,16172393,15489334,15242768,15009096,14702039,12477932,7815490 51773 NM_016578,AP000580,AP000609,AP002343,CH471076,AF059317,AF227948,AF380176,AK001268,AL602953,BC000774,BC015360,BC046124 NP_057662,EAW75033,EAW75034,EAW75035,AAG43114,AAF61709,AAK57515,BAA91591,AAH15360,AAH46124,Q05DG0,Q96T23,AAI48327,AAI53211 Hs.420229 GDB:11506119 HBXAP|RSF-1|XAP8|p325 hepatitis b virus x associated protein protein-coding 1344817 RSHL1 radial spokehead-like 1 The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). 11256614,16381901,15489336,14702039,12477932,11237735,11230166,11076863,9373149,8125298 81492 NM_030785,AC011530,AC092301,CH471126,AK093068,AK098837,AK223347,AL136761,BC057785 NP_110412,EAW57388,BAD97067,CAB66695,AAH57785,Q9H0K4,CAL38364,AAI46684 Hs.146544 GDB:11507775 RSP4|RSP6 protein-coding 1348763 RSHL3 radial spokehead-like 3 14702039,12477932 345895 BC022879,BC106949,NM_001010892,AL132795,CH471051,AK095293 AAI06950,Q5TD94,NP_001010892,CAI20496,CAI20497,EAW48219,EAW48220 Hs.160380 FLJ37974|MGC126303|dJ412I7.1 protein-coding 1350657 RSL1D1 ribosomal L1 domain containing 1 17353931,17081983,16964243,16565220,16083285,15880258,15635413,15489334,15334068,15302935,12963728,12477932,12429849,11790298,9859858 26156 NM_015659,AC010654,CH471112,AF074987,AF083127,AJ007398,AK000822,AK025446,AL049999,AY154473,AY598331,BC009802,BC016362,BC017899,BC019069,BC070325,BC107782,BC112228,BC113699,BI856275,CR599700,CR600844 NP_056474,EAW85133,EAW85134,EAW85135,AAF98239,CAA07491,CAB43231,AAN46298,AAT06742,AAH16362,AAH17899,AAH19069,AAI07783,AAI12229,AAI13700,O76021,Q32Q62 Hs.401842 CSIG|DKFZP564M182|L12|MGC138433|MGC142259|PBK1 protein-coding 1317061 RSPH1 radial spoke head 1 homolog (Chlamydomonas) 1580863 16780588,17451891,15489334,14702039,12477932,9578619,9403069 89765 NM_080860,AP001624,AP001625,CH471079,AB006536,AB041016,AK057315,BC101519,BC113367 NP_543136,EAX09556,EAX09557,EAX09558,BAB83694,BAB92995,AAI01520,AAI13368,Q8WYR4 Hs.661069 GDB:9992982 MGC126568|MGC141927|RSP44|RSPH10A|TSA2|TSGA2 testes specific a2 homolog (mouse) protein-coding 1605260 RSPH10B radial spoke head 10 homolog B (Chlamydomonas) 16507594,14702039,12477932 222967 NM_173565,AC004983,AC005995,BC034495 NP_775836,AAH34495,A6NMW7 Hs.442339 MGC50833 protein-coding 1322691 RSPH3 radial spoke 3 homolog (Chlamydomonas) 737633 15225872,14702039,12477932 737633 83861 NM_031924,AL035530,CH471051,AF353618,AK057655,AK057931,BC011590,BC035675,BC050604,CR624562 NP_114130,CAI19235,CAI19236,EAW47641,EAW47642,EAW47643,AAK26432,BAB71544,BAB71615,AAH50604,Q86UC2 Hs.154628 RSHL2|RSP3|dJ111C20.1 radial spoke head 3 homolog (Chlamydomonas)|radial spokehead-like 2 protein-coding 1603515 RSPO1 R-spondin homolog (Xenopus laevis) This gene is a member of the R-spondin family and encodes a secreted activator protein with two cystein-rich, furin-like domains and one thrombospondin type 1 domain. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. 15489334,14732490,14702039,12477932,18242177,18085567,17804805,17041600,16710414,16344560,16306530,16109882 284654 NM_001038633,AL513220,CH471059,AK098225,BC114966,CA438631,DB273983,DQ165084,DQ165085,DQ318235 NP_001033722,CAI15785,EAX07331,BAC05263,AAI14967,ABA54597,ABA54598,ABC54570,Q0H8S6,Q2MKA7 Hs.135015 CRISTIN3|FLJ40906|RP11-566C13.1|RSPO protein-coding 1603855 RSPO2 R-spondin 2 homolog (Xenopus laevis) R-spondins (RSPOs), such as RSPO2, are secreted proteins that regulate beta-catenin (CTNNB1; MIM 116806) signaling (Kim et al., 2006 [PubMed 16357527]).[supplied by OMIM] 16357527,15489334,15469841,12975309,12477932 340419 NM_178565,AC025508,AP003479,CH471060,AK123023,AK123027,AY358166,BC027938,BC036554 NP_848660,EAW91913,EAW91914,EAW91915,EAW91916,AAQ88533,AAH27938,AAH36554,Q6UXX9 Hs.444834 CRISTIN2|MGC35555|MGC43342 protein-coding 1345376 RSPO3 R-spondin 3 homolog (Xenopus laevis) This gene encodes a member of the thrombospondin type 1 repeat supergene family. In addition, the protein contains a furin-like cysteine-rich region. Furin-like repeat domains have been found in a variety of eukaryotic proteins involved in the mechanism of signal transduction by receptor tyrosine kinases. 1580863 16357527,15489334,14702039,14574404,12477932,12463421,10842357,12643280 84870 NM_032784,AL031776,AL590733,CH471051,AA568446,AF086298,AF251057,BC022367,CR621431 NP_116173,CAI20141,CAI20142,CAH71124,CAH71125,EAW48114,EAW48115,EAW48116,AAK34947,AAH22367,Q9BXY4,ABM82333,ABM85509 Hs.135254 CRISTIN1|FLJ14440|PWTSR|THSD2 thrombospondin, type i, domain containing 2 protein-coding 1344766 RSPO4 R-spondin family, member 4 R-spondins (RSPOs), such as RSPO4, are secreted proteins that regulate beta-catenin (CTNNB1; MIM 116806) signaling (Kim et al., 2006 [PubMed 16357527]).[supplied by OMIM] 17914448,17805348,17041604,16357527,15144186,14702039,11780052,8889548 343637 NM_001040007,NM_001029871,AL050325,CH471133,AK122609,BQ185331,DQ355152 NP_001035096,NP_001025042,CAB65783,EAX10652,EAX10653,ABC75877,Q2I0M5,AAI56853 Hs.444980 GDB:11505206 C20orf182|CRISTIN4|FLJ16018|dJ824F16.3 chromosome 20 open reading frame 182 protein-coding 1606482 RSPRY1 ring finger and SPRY domain containing 1 15489334,14702039,12975309,12477932,11853319 89970 NM_133368,AC009090,CH471092,CS300510,AB075852,AK027549,AK124601,AK172845,AL834402,AY358548,BC013173 NP_588609,EAW82909,EAW82910,EAW82911,CAK32174,BAB85558,BAD18809,CAD39064,AAQ88912,AAH13173,Q96DX4 Hs.460885 KIAA1972 protein-coding 1602488 RSRC1 arginine/serine-rich coiled-coil 1 16169070,15489334,12477932 51319 NM_016625,AC074276,AC106707,AC112502,AC112774,AC129107,CH471052,AF208853,AK290334,BC006982,BC010357 NP_057709,EAW78692,EAW78693,EAW78694,AAF64267,BAF83023,AAH06982,AAH10357,Q96IZ7 Hs.591283 BM-011|MGC12197 protein-coding 1606784 RSRC2 arginine/serine-rich coiled-coil 2 17203224,16713569,14702039,12477932 65117 NM_198262,NM_023012,NM_198261,AC127002,CH471054,AB212664,AF161432,AK001883,AK023985,AK056114,AK056256,AK094465,BC008684,BC067773,BX640711,BX647884,CA442478,CR591855,CR600375,CR606990,CR615030,CR615900,CR623961 NP_937993,NP_075388,NP_937992,EAW98327,EAW98328,EAW98329,EAW98330,EAW98331,EAW98332,BAE93762,AAF28992,BAB14755,AAH08684,AAH67773,CAE45830,Q7L4I2,Q9P068 Hs.432996 FLJ11021 protein-coding 1344044 RSS Russell Silver syndrome 1633648,8403458 140821 GDB:439249 1313402 RSU1 Ras suppressor protein 1 This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. 1580863 1508180,15878342,15489334,15242332,14702039,12665801,12510772,12477932,9373149,8816460,8288261,8125298,8076819,7624154,17353931 6251 NM_152724,NM_012425,AC073367,AL365215,CH471072,EF445013,AK023951,AK024109,AK055596,AK092036,AK225681,AK292911,BC005993,BC008384,BC008691,BC015644,BC016337,BC065296,BC107898,BG400752,BX647733,CR536521,CR541840 NP_689937,NP_036557,CAH73632,CAH73633,EAW86222,EAW86223,EAW86224,ACA06048,ACA06049,ACA06050,BAB70967,BAF85600,AAH05993,AAH08691,AAH15644,AAI07899,CAG38758,CAG46639,Q15404,Q32Q10,Q5VWS1,Q6FI17,Q96ND5 Hs.524161 GDB:203962 FLJ31034|RSP-1 protein-coding 1347723 RSU1P1 Ras suppressor protein 1 pseudogene 1 414239 1606213 RTBDN retbindin 15489334,14702039,12477932,12107411 83546 NM_031429,NM_001080997,AC020934,CH471106,AK093672,AY028917,BC005063 NP_113617,NP_001074466,EAW84314,EAW84315,EAW84316,BAC04217,AAK26169,AAH05063,Q6ZPB2,Q8N210,Q9BSG5 Hs.21162 FLJ36353 protein-coding 1344520 RTCD1 RNA terminal phosphate cyclase domain 1 RNA 3-prime-terminal phosphate cyclase (RPC; EC 6.5.1.4) catalyzes the ATP-dependent conversion of a 3-prime phosphate to a 2-prime,3-prime-cyclic phosphodiester at the end of RNA (Genschik et al., 1997 [PubMed 9184239]).[supplied by OMIM] 1323842,1580863 9184239,15489334,12477932,2199762,17353931 1323842 8634 NM_003729,AL445928,AL663111,CH471097,Y11652,AK292366,BC012604,CR595281,CR595704,CR606775,CR620930,Y11651 NP_003720,CAH72259,CAH72260,CAH72261,EAW72961,EAW72962,CAA72365,BAF85055,AAH12604,CAA72364,O00442,Q5VSU9,Q5VSV0,Q5VVL4 Hs.552835 GDB:9956072 RPC protein-coding 1313725 RTDR1 rhabdoid tumor deletion region gene 1 This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. 1580863 16189514,15761153,15489334,15461802,12477932,10607907 27156 NM_014433,AC000029,CH471095,AF133587,BC008986,CR456567 NP_055248,EAW59557,AAF02484,AAH08986,CAG30453,Q9UHP6,CAK54598,CAK54897 Hs.526920 GDB:11504553 MGC16968 protein-coding 1345647 RTEL1 regulator of telomere elongation helicase 1 In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. It is located in a gene-rich cluster on chromosome 20, with other potential tumor-related genes, such as TNFRSF6B. Multiple transcript variants encoding different isoforms have been described for this gene, although the full-length nature of not all variants is known. 15210109,14702039,12477932,12168954,11780052,10655513,10470851 51750 NM_032957,NM_016434,AF217796,AL121845,AL353715,CH471077,AB029011,AF217795,AK000485,AK131105,AL080127,AL157435,BC131817 NP_116575,NP_057518,AAF35243,CAC16223,CAC28319,CAI17958,CAM25345,CAM25346,EAW75238,EAW75239,EAW75240,EAW75241,EAW75245,BAA83040,AAF33687,BAA91197,BAC85155,CAB45725,Q9NZ71 Hs.434878 C20orf41|DKFZP434C013|KIAA1088|NHL|RTEL|bK3184A7.3 protein-coding 1321684 RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 737633 17353931,17081983,15632063,15489334,12477932,12168954,9039502 737633 23168 NM_015138,AC087721,CH471125,AK292302,AW291085,BC015052,BF979715,CR600802,CR601195,D87440 NP_055953,EAW92490,EAW92491,EAW92492,BAF84991,AAH15052,BAA13382,Q92541 Hs.511096 GTL7|KIAA0252 protein-coding 1354382 RTKN rhotekin This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 10940294,16007136,15480428,17546647,16979770,16646955,15761153,15599595,15489334,15316142,12879077,12516569,12477932,10873388,9847074,9073523,16189514,12593858,8662891,15834426,15694321,15467718,15652748,15889147,15766663 6242 NM_001015056,NM_033046,AC005041,CH471053,AF049227,AF290512,AW410753,BC004558,BC017727,BG470092,BQ574374,NM_001015055,BQ721791,CR599244 NP_001015055,NP_001015056,NP_149035,EAW99674,EAW99675,EAW99676,AAL16767,AAG01181,AAH04558,AAH17727,Q9BST9,ABM82397,ABW03397 Hs.192854 GDB:4642791 protein-coding 1312504 RTKN2 rhotekin 2 1580863 15504364,15120425,14702039,12477932 219790 AC024597,AL607150,CH471083,AK096671,AY150309,BC025765,BC048002,BC141821,BC142725,NM_145307,CR749217 NP_660350,CAI15188,CAI15189,EAW54230,EAW54231,EAW54232,BAC04837,AAN71738,AAH25765,AAH48002,AAI41822,CAH18074,Q5SVY4,Q8IZC4,AAI42726 Hs.58559 DKFZp686J10120|PLEKHK1|bA531F24.1 protein-coding 1602404 RTL1 retrotransposon-like 1 18176563,16155747,15854907,12796779 388015 XM_370776,XM_001716782,XM_940870,AL117190 XP_370776,XP_001716834,XP_945963 MART1|Mar1|PEG11 protein-coding 732399 RTN1 reticulon 1 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Alternatively spliced transcript variants encoding different isoforms have been identified. Multiple promoters rather than alternative splicing of internal exons seem to be involved in this diversity. 1580863 8833145,17596210,17303085,16602018,16189514,15489334,15286784,14995077,14702039,12873973,12832288,12477932,11126360,9560466,8900485,8889548,8275708,8062278,7844160,7685762,7515034,15117958 6252 NM_021136,NM_206857,NM_206852,CR593929,CR595047,CR596045,CR596361,CR597727,CR598114,CR598721,CR599775,CR600625,CR600951,CR601949,CR602021,CR602238,CR602429,CR602646,CR603070,CR603795,CR604011,CR604750,CR606033,CR606583,CR607343,CR609190,CR609607,CR611210,CR612754,CR614370,CR616369,CR616883,CR616915,CR618902,CR619313,CR620778,CR622105,CR622144,CR623614,CR626841,DQ355431,L10333,L10334,L10335,AL121694,AL133299,AL139194,CH471061,AK128113,AK290534,BC000314,BC003003,BC068510,BC090862,BC111694,BG704578,BM671733,BX449967,CR457030,CR590119,CR590533,CR591277,CR591505,CR591662,CR591857 NP_066959,NP_996739,ABC71342,AAA59950,AAA59951,AAA59952,Q16799,Q2L7A7,Q2NKQ5,Q6IAX4,Q9BQ59,NP_996734,EAW80762,EAW80763,EAW80764,BAF83223,AAH00314,AAH03003,AAH90862,AAI11695,CAG33311 Hs.368626 GDB:203968 MGC133250|NSP protein-coding 1351891 RTN2 reticulon 2 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 9693037,15345747,15286784,12832288,12477932,10672514,9530622,8812484,14499622 6253 BK001690,BK001691,BM548456,CR612056,NM_005619,NM_206901,AC138534,CH471126,AA845604,AF004222,AF004223,AF004224,AF038540,AK291967,BC014244,BC073874,BK001686,BK001687,BK001688,BK001689,NM_206900 DAA01935,DAA01936,O75298,Q6GMT0,Q7RTM9,Q7RTN0,Q96CG9,NP_996783,NP_005610,NP_996784,EAW57354,EAW57355,EAW57356,EAW57357,EAW57358,EAW57359,AAC32542,AAC32543,AAC32544,AAC14910,BAF84656,AAH73874,DAA01944,DAA01932,DAA01933,DAA01934 Hs.47517 GDB:6279922 NSP2|NSPL1 protein-coding 1349287 RTN3 reticulon 3 The reticulons are a group of highly conserved genes with preferential expression in neuroendocrine tissues (see, e.g., RTN1; MIM 600865).[supplied by OMIM] 1580863 10331947,17699523,17379544,17191123,17182608,17081983,17031492,16979658,16965550,16847569,16303743,16189514,16054885,15946766,15799019,15560370,15489334,15350194,15286784,15117958,14986927,14702039,12873973,12832288,12477932,12054434,9373149,8125298,12811824 10313 NM_201428,NM_201430,NM_006054,AF059529,AP000753,AP006289,CH471076,CQ754316,CQ754322,NM_201429,BC105981,BC105982,BC118550,BC118628,BK001681,BK001682,BK001683,BK001684,BK001685,CR592349,CR596154,CR601675,CR602829,CR606090,CR607815,CR609229,CR609823,CR614083,CR614599,CR619650,CR624616,AB209771,AF059524,AF119297,AK075412,AK094965,AK122727,AK127079,AK222898,AY427821,AY750848,BC000634,BC000865,BC010556,BC011394,BC022993,BC100822,BC100823,CS051431 NP_958832,NP_958831,NP_958833,NP_006045,AAD20951,EAW74164,EAW74165,EAW74166,EAW74167,EAW74168,EAW74169,EAW74170,CAF32494,CAF32497,AAI00824,AAI05982,AAI05983,AAI18551,AAI18629,DAA01941,DAA01942,DAA01930,DAA01943,DAA01931,O95197,Q7RTN4,Q9BVW7,AAI48633,CAI72209,BAD93008,AAC99319,AAD26810,BAD96618,AAR02474,AAU81930,AAH00634,AAH00865,AAH10556,AAH11394,AAH22993,AAI00823 Hs.473761 GDB:9956272 ASYIP|HAP|NSPL2|NSPLII|RTN3-A1 protein-coding 1354047 RTN3PS reticulon 3 pseudogene 724607 724607 359808 730919 RTN4 reticulon 4 This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. 1580863 11126360,10667797,15034570,18234903,17764014,17645629,17626519,17592524,17455292,17437522,17242333,17081983,17022955,16979658,16965550,16905119,16835300,16772867,16646068,16629624,16381901,16189514,16095439,15953657,15820318,15749087,15661375,15498874,15489336,15489334,15345747,15286784,15245492,15234466,15147731,14741411,14702039,14592966,12811824,12618765,12510146,12488097,12477932,12425946,12377379,12270696,12089450,12067236,12037567,11891768,11866689,11358445,11201742,11076863,11042152,10773680,10667796,10667780,10048485,17353931,15694321 57142 NM_207520,NM_020532,NM_207521,NM_007008,AC013414,AC092461,AC093165,AY102285,CH471053,NM_153828,CQ829486,CS061793,AB015639,AB020693,AB040462,AB040463,AB073351,AB073359,AF063601,AF077050,AF087901,AF125103,AF132047,AF132048,AF148537,AF148538,AF177332,AF320999,AF333336,AI671568,AJ251383,AJ251384,AJ251385,AK075039,AK090714,AK093785,AK098385,AK129806,AK130812,AK172726,AY102276,AY102277,AY102278,BC068991,BC071848,BC150182,BC152425,BC152555,CR611869,DQ778739,AY102279,AY123245,AY123246,AY123247,AY123248,AY123249,AY123250,BC001035,BC007109,BC010737,BC012619,BC014366,BC016165,BC026788 NP_722550,NP_997403,NP_065393,NP_997404,NP_008939,AAY24239,AAX93116,AAY24029,AAM64240,AAM64241,AAM64242,AAM64243,AAM64244,EAX00115,EAX00116,EAX00117,EAX00118,EAX00119,EAX00120,EAX00121,CAH03193,CAI79370,BAA83712,BAA74909,BAB18927,BAB18928,BAE45714,BAE45717,AAG43160,AAD27783,AAG12205,AAD39920,AAD31021,AAD31022,AAG12176,AAG12177,AAG17976,AAG40878,AAK20831,CAB99248,CAB99249,CAB99250,AAM64245,AAM64246,EAX00122,EAX00123,EAX00124,EAX00125,EAX00126,EAX00127,EAX00128,EAX00129,EAX00130,EAX00131,EAX00132,AAH26788,AAH68991,AAH71848,AAI50183,AAI52426,AAI52556,ABG76010,Q3LIF1,Q3LIF4,Q53R94,Q53RF4,Q53SY1,Q6IPN0,Q7L7Q5,Q7L7Q6,Q7L7Q8,Q8IUA4,Q96B16,Q9NQC3,CAL37631,CAL37982,CAL38000,CAL38158,CAL38414,CAL38434,AAI39929,AAM64247,AAM64248,AAM64249,AAM64250,AAM64251,AAM64252,AAM64253,AAM64254,AAH01035,AAH07109,AAH10737,AAH12619,AAH14366,AAH16165 Hs.645283 GDB:9956333 ASY|NI220/250|NOGO|NOGO-A|NOGOC|NSP|NSP-CL|Nbla00271|Nbla10545|Nogo-B|Nogo-C|RTN-X|RTN4-A|RTN4-B1|RTN4-B2|RTN4-C protein-coding 1348834 RTN4IP1 reticulon 4 interacting protein 1 This gene encodes a novel mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. The interaction of reticulon 4 with mitochondrial proteins may provide insight into the mechanisms for reticulon-induced inhibition of neurite growth. 1580863 16189514,15489334,14702039,14574404,12477932,12160746,12067236 84816 NM_032730,A52373,AL390074,CH471051,AF336861,AF439711,AK095207,AY063761,BC006399,BE894352,BQ936729,CR601619 NP_116119,CAA03396,CAH72095,EAW48409,EAW48410,EAW48411,AAK64603,AAL34525,BAC04499,AAL40856,AAH06399,Q8WWV3,Q96RL8,ABM84071,ABM87437 Hs.155839 GDB:11507779 MGC12934|NIMP protein-coding 1607007 RTN4R reticulon 4 receptor This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. 11201742,11256614,17959786,17188332,17182778,16897606,16381901,16342940,15749087,15532024,15489336,15489334,15461802,15340161,15331667,14966521,14702039,12975309,12839991,12718853,12477932,12422217,12378589,12183616,12160746,12089450,12068310,12037567,11891768,11230166,11076863,10591208,15953414,15694321,15694322 65078 NM_023004,AC007663,CH471176,AF283463,AK054602,AL834449,AY358297,BC011787,BM762412,CR456360,CR590252,CR595137,CR601215,CR620900 NP_075380,EAX02975,EAX02976,AAG53612,CAD39109,AAQ88664,AAH11787,CAG30246,Q0JTL6,Q9BZR6,CAL38146,CAK54501,CAK54800,ABM83817,ABM87137 Hs.30868 GDB:11507781 NGR|NOGOR protein-coding 1348623 RTN4RL1 reticulon 4 receptor-like 1 1580863 12694398,14664809,12839991,12477932,12068310 146760 NM_178568,AC099684,AC130689,CH471108,AF532859,AI680692,AL535679,AL834409,AY250219,BC023311,BC128608,BK001305 NP_848663,EAW90570,EAW90571,AAP21836,CAD39071,AAP82836,AAI28609,DAA01388,Q86UN2 Hs.22917 DKFZp547J144|NGRH2|NgR3 protein-coding 1344970 RTN4RL2 reticulon 4 receptor-like 2 1580863 12694398,14664809,18337405,16554811,15629437,15489334,12839991,12477932 349667 NM_178570,AP002893,CH471076,AF532858,AY250221,BC113673,BC117276,BK001302,DQ864979 NP_848665,EAW73747,EAW73748,AAP21835,AAP82838,AAI13674,AAI17277,DAA01385,ABI23432,Q0GGW3,Q86UN3 Hs.502618 NGRH1|NgR2 protein-coding 1604751 RTP1 receptor (chemosensory) transporter protein 1 16720576,16271481,15489334,12477932,15550249,17387175 132112 AC007920,CH471052,AY562235,BC034744,BC065202,NM_153708 NP_714919,EAW78155,AAT70680,AAH34744,AAH65202,P59025,ABM81733,ABM84888 Hs.518480,Hs.640145 MGC35450 protein-coding 1606102 RTP2 receptor (chemosensory) transporter protein 2 15550249,16720576,16271481,15489334,12477932 344892 NM_001004312,AC072022,CH471052,AY562236,BC068081 NP_001004312,EAW78144,AAT70681,AAH68081,Q5QGT7 Hs.567872 MGC78665 protein-coding 1353966 RTP3 receptor (chemosensory) transporter protein 3 1580863 16720576,17693185,16271481,15550249,11896456 83597 NM_031440,AC098613,CH471055,AJ312776,AY562237,BC131756 NP_113628,EAW64768,CAC37401,AAT70682,AAI31757,Q9BQQ7 Hs.196584 GDB:11508038 LTM1|TMEM7 transmembrane protein 7 protein-coding 1605965 RTP4 receptor (chemosensory) transporter protein 4 16720576,16271481,15550249,15489334,12477932 64108 NM_022147,AC068299,CH471052,AJ251832,AY562238,BC013161,CA413859 NP_071430,EAW78148,CAC14309,AAT70683,AAH13161,Q96DX8,ABM81972,ABM85151 Hs.43388 IFRG28 protein-coding 1315475 RTTN rotatin RTTN is required for the early developmental processes of left-right (L-R) specification and axial rotation and may play a role in notochord development (Faisst et al., 2002 [PubMed 11900971]).[supplied by OMIM] 14702039,12477932,11900971 25914 NM_173630,AC011930,AC021701,CH471117,AK096404,AK126538,AK128137,AK129866,AL117635,BC007359,BC013774,BC026879,BC046222,BC046931,BC047602,BF507420,CR749799 NP_775901,EAW66516,EAW66517,EAW66518,EAW66519,EAW66520,EAW66521,BAC04780,BAC86583,BAC87292,CAB56025,AAH07359,AAH26879,AAH46222,AAH47602,CAH18659,Q86VV8 Hs.654809 GDB:11508980 DKFZP434G145|FLJ26356|FLJ39085 protein-coding 1312929 RUFY1 RUN and FYVE domain containing 1 1580863 16344560,15489334,15342556,14702039,14617813,12477932,11877430,16189514,11172003 80230 NM_001040451,NM_001040452,AC136604,CH471165,AB209507,AF312367,AF361055,AK025904,AK075021,AK093848,AK291926,BC016564,BC032571,NM_025158,BP358497,BQ014374,DA811890,DA925727 NP_079434,NP_001035541,NP_001035542,EAW53810,BAD92744,AAQ14554,AAK50771,BAB15276,BAF84615,AAH32571,Q96T51 Hs.306769 FLJ22251|RABIP4|ZFYVE12 protein-coding 1312074 RUFY2 RUN and FYVE domain containing 2 1580863 12477932,11877430,10819331,15164054,14702039 55680 NM_017987,NM_001042417,AC016395,AL136233,CH471083,AF461266,AK055646,AK094214,AK127019,AY528716,BC020659,BC030097,BC041092,BC062660,BG681628,BM150360,BQ006812,AB040970,AF411980 NP_060457,NP_001035882,CAI17232,CAI17235,EAW54290,AAL04164,AAL67520,AAT44401,AAH41092,Q5GIA6,Q5TC51,Q8IW33,Q8WXA3,Q9NWF2,EAW54291,EAW54292,EAW54293,EAW54294,EAW54295,BAA96061 Hs.653144 FLJ10063|KIAA1537|RABIP4R|ZFYVE13 protein-coding 1604831 RUFY3 RUN and FYVE domain containing 3 17439943,15489334,14702039,12477932,10048485 22902 NM_014961,NM_001037442,AC009570,CH471057,AB020678,AF112221,AK000911,BC051716,BC053837,BC071988,BC098433,CR593161,CR598922 NP_055776,NP_001032519,EAX05629,EAX05630,BAA74894,AAF17208,AAH51716,Q7L099,ABZ92309 Hs.7972 KIAA0871|RIPX|SINGAR1 protein-coding 1602820 RUFY4 RUN and FYVE domain containing 4 12477932 285180 NM_198483,AC010136,AC124768,CH471063,AK128393,AK131246,BC113712 NP_940885,EAW70588,BAC87417,BAD18426,AAI13713,Q6ZNE9 Hs.570069 FLJ46536 protein-coding 1316714 RUNDC1 RUN domain containing 1 737633 14702039,12477932 737633 146923 NM_173079,AC055866,CH471152,AK055627,AL831813,AY189284,BC014873,BC039247,CA445450,DC391927 NP_775102,EAW60907,EAW60908,CAD38528,AAO86728,AAH14873,AAH39247,Q96C34 Hs.632255 DKFZp761H0421 protein-coding 1353142 RUNDC2A RUN domain containing 2A 737633 14702039,12477932,8889548 737633 84127 NM_032167,AC007216,AC007601,AK022425,BQ185857 NP_115543,BAB14033,Q9HA26 Hs.458401 FLJ12363 protein-coding 1343949 RUNDC2B RUN domain containing 2B 15489334,12477932 400509 NM_001012391,XM_001714307,AC025279,BC041583 NP_001012391,XP_001714359,AAH41583,Q8IUI4 Hs.709595 protein-coding 1352523 RUNDC2C RUN domain containing 2C 12477932 440352 NR_002939,XR_042180,AC008740,BC024293,BX648280 Q9H8C5 Hs.658149 pseudo 1605704 RUNDC3A RUN domain containing 3A 9523700,16713569,16189514,12477932,9373149,9110174,8619474,8125298 10900 AC003043,CH471178,AB209802,AF055026,AK123330,AK226045,AL133657,BC006194,BC013240,BX537443,CR456748,CR622819,U93871,NM_006695 NP_006686,EAW51608,EAW51609,EAW51610,EAW51611,EAW51612,BAD93039,AAC09366,CAB63771,AAH06194,CAD97685,CAG33029,AAB68767,Q59EK9 Hs.500197 RAP2IP|RPIP8 protein-coding 1601714 RUNDC3B RUN domain containing 3B 15986426,14702039,12690205,12645870,12477932 154661 NM_138290,AC002457,AC003083,CH236949,CH471091,AK055233,AK091536,AY033596,BC022520 NP_612147,EAL24172,EAW76936,EAW76937,EAW76938,EAW76939,BAB70882,BAC03686,AAK52313,AAH22520,Q96NL0 Hs.411488 FLJ30671|MGC26655|RPIB9|RPIP9 protein-coding 736526 RUNX1 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. 1580863 16386788,16314494,16307024,16287839,16278392,16249223,17285576,17234761,17213321,17095626,17079875,17072347,17043020,17017876,17015828,16964375,16914570,16892559,16888092,16821265,16803898,16741927,16684349,16674921,16673018,16652416,16652147,16652140,16628190,16627249,16616331,16598304,16519819,16474840,16442267,16237704,16213368,16177090,16149049,16102112,16042694,15991223,15970674,15968309,15914564,15856017,15829516,15741216,15735013,15728845,15723339,15705784,15704129,15688019,15654961,15618958,15613106,15489901,15475366,15386419,15339695,15333839,15302935,15203865,15184985,15179033,15142881,15142876,15104290,15104277,10207087,11965546,14970218,8565077,8622955,9199349,18445843,18332109,18328148,18316480,18276842,18206548,18206538,18202291,18202228,18166807,18087673,18003885,17996649,17989718,17975013,17956600,17935781,17910630,17894555,17889714,17889709,17854666,17690704,17684492,17673463,17650443,17625612,17589498,17560011,17550866,17533375,17532767,17485549,17394134,17377532,15061191,14966519,14752096,14747476,15051730,14703694,14702039,14623259,14615365,14562119,14561740,14525764,14523475,12937148,12917624,12874780,12773394,12760263,12699896,12643014,12604126,12576332,12560229,12557226,12555067,12554803,12526921,12496475,12495904,12477932,12393679,12393523,12393286,12377125,12356919,12352981,12217689,12200707,12091359,12082641,12072207,12060124,12002768,11986950,11979742,11921279,11830488,11792409,11742995,11641401,11276260,11274169,11203699,11118213,10856244,10830953,10825294,10713153,10675041,10545320,10521447,10508512,10455134,10404214,10228168,10068652,9751710,9119228,8889548,8700862,8634147,8622667,8490181,8413232,8395054,8353289,8334990,8313895,7919324,7891692,7835892,7795214,7780150,7761424,7651838,7541640,7533526,1720541,1560822,1427868,1423235,12551949 861 NM_001001890,NM_001122607,AF015262,AF025841,AJ229043,AP000330,AP000331,AP000332,AP000333,AP000334,CH471079,AA878154,AK226159,AL581043,AV761975,BC110828,BM149149,BX475024,CA503244,CD638998,CR610970,CR622321,D10570,NM_001754,D43967,D43968,D43969,D89788,D89789,D89790,L34598,S60998,S76345,S76346,S76350,U19601,X79549,X90976,X90977,X90978,X90979 NP_001745,NP_001001890,NP_001116079,AAC05246,AAC05247,CAA13070,EAX09769,EAX09770,AAI10829,BAA07902,BAA07903,BAA07904,BAA14020,BAA14021,BAA14022,AAA51720,AAB33729,AAB33730,AAB33731,AAB51691,CAA56092,CAA62464,CAA62465,BAA01426,CAA62466,Q15342,Q01196,Q2TAM6 Hs.149261,Hs.612648 GDB:128313 AML1|AML1-EVI-1|AMLCR1|CBFA2|EVI-1|PEBP2aB runt related transcription factor 1 protein-coding 1350261 RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Several transcript variants encoding multiple isoforms have been found for this gene. 16966434,17353931,9618262,18332109,18258796,18205948,18039847,17996649,17989718,17875504,17625612,17560011,17284535,17244680,17058450,16990610,16892037,16741927,16713569,16652140,16616331,16502583,16189514,15829516,15735013,15723339,15676213,15576789,15489334,15377655,15333839,15298716,15295650,15203865,14751048,14703694,12874834,12773394,12557226,12477932,12427969,12393523,11986950,11983111,11869944,11593431,11591653,11533236,11150306,11113190,11090081,10973986,10951564,10861016,10688654,10675041,10076566,9790752,9661669,9632137,8781439,8575770,8353289,8334990,8137293,7919324,7541640,1423235,1391946,12242670,14982881,18156164,14551142 862 BC005850,BC067078,BT009871,CR456792,CR619328,D14289,D14821,D43638,X79990,NM_175635,NM_175634,NM_004349,NM_175636,AB074982,AC103680,AC104339,AF018280,AF018282,AF181450,AF198490,CH471060,S74096,AA506749,AF018283 AAH05850,AAH67078,AAP88873,CAG33073,BAA03247,BAA03558,BAA07755,CAA56311,Q06455,Q6NXH1,Q71VC2,Q71VC3,Q7Z4J5,Q8TDW8,Q9HBV9,NP_783553,NP_783552,NP_004340,NP_783554,BAB88555,AAC28933,AAC28934,AAC28931,AAC28932,AAG33024,EAW91681,EAW91682,EAW91683,EAW91684,EAW91685,EAW91686,AAB32126,AAC26143 Hs.368431 GDB:138279 AML1T1|CBFA2T1|CDR|ETO|MGC2796|MTG8|MTG8b|ZMYND2 protein-coding 1348975 RUNX2 runt-related transcription factor 2 This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. 1580863,1601649 9182762,11965546,12145306,9182765,12217689,18373722,18357615,18319563,18316777,18171674,18166138,18082140,17981598,17973689,17956871,17878995,17702747,17522365,17438369,17434448,17387386,17379770,17360627,17352650,17350616,17251981,17171635,17042739,17000892,16613856,16598384,16476422,16467978,16442859,16418782,16407259,16299379,16270353,16244783,16237704,16208410,16198163,16187316,16166639,16110492,15933061,15864279,15838892,15798204,15750689,15725473,15665096,15623533,15583032,15537544,15476590,15389579,15304489,15292260,15273700,15262978,15231660,15225881,15193550,15150273,15146197,15051730,14739291,14671302,14639470,14574404,14523023,12815605,12750290,12746842,12732182,12697832,12674332,12631081,12615658,12568398,12554794,12477932,12434156,12393937,12391164,12270142,12231506,12196916,12162506,12145311,12145308,12112004,12088880,12081718,12060751,11979975,11968014,11857736,11768584,11683913,11668178,11641401,11274169,10980549,10962029,10699973,10689183,10545612,10531362,10521447,10521292,10330183,10228168,9794229,9651525,9434946,9233771,9207800,9182764,8362902,8341710,7835892,7717404,12551949 1601649 860 NM_001024630,NM_001015051,NM_004348,AF001443,AF001444,AF001445,AF001446,AF001447,AF001448,AF001449,AF001450,AF053949,AL096865,AL161907,AL358135,AL513219,AY406695,CH471081,AF053952,AF087960,BC108919,BC108920,CD001961,CN431726,L40992,AL353944 NP_001019801,NP_001015051,NP_004339,AAB65159,AAB65158,AAC77441,CAI19925,CAI19926,CAI19931,CAI19932,CAI19637,CAI19638,CAI19639,CAI19641,CAI13528,CAI13529,CAI13531,CAI13532,EAX04277,EAX04278,EAX04279,EAX04280,EAX04281,EAX04282,AAC78624,AAI08920,AAI08921,AAA89072,Q13950,Q32MY8,Q5T801,Q5T802,AAI60022 Hs.535845 GDB:392082 AML3|CBFA1|CCD|CCD1|MGC120022|MGC120023|OSF2|PEA2aA|PEBP2A1|PEBP2A2|PEBP2aA|PEBP2aA1 1643399 BMD5_H protein-coding 1351530 RUNX3 runt-related transcription factor 3 This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 7835892,9751710,7607690,7622058,18288406,18097595,18058463,17956589,17923751,17914577,17606310,17591929,17591800,17584746,17471240,17470130,17384682,17195845,16984612,16887969,16818622,16767156,16710414,16684349,16652147,16627973,16582583,16442267,16373335,16367921,16344560,16328045,16234815,16155404,16142337,16140942,16135801,16091737,16080503,15824739,15819721,15780064,15778373,15728469,15688019,15489334,15386419,15273736,15138260,15051926,14760761,14715269,14702039,12907736,12875960,12855590,12824905,12477932,11955451,11733147,8437866,17353931 864 NM_001031680,NM_004350,AJ238394,AL023096,AL445471,CH471134,CQ834770,U14520,Z38104,Z38108,AF022726,AI375031,AJ001432,AK091829,BC013362,CR591302,DA935726,X79550,Z35278 NP_001026850,NP_004341,CAB42882,CAA18856,CAC42093,EAW95147,EAW95148,EAW95149,CAH05600,AAA86465,AAB80759,AAH13362,CAA56093,CAA84541,O14814,Q13761,Q96QW2,Q9Y3R8 Hs.170019 GDB:392081 AML2|CBFA3|FLJ34510|MGC16070|PEBP2aC protein-coding 1349680 RUSC1 RUN and SH3 domain containing 1 1580863 10760598,16344560,16303743,15489334,15024033,14702039,12477932 23623 NM_001105204,NM_001105205,NM_014328,AL139410,CH471121,CQ783792,AB026894,AK055451,AK074485,AK074982,AK093777,AK125378,AL080083,BC001045,BC004293,BC025680,BC028055,BC052277,BC131492,BQ004124,BX640612,CR590186,CR594338,CR594503,CR596817,CR603309,CR603792,CR604047,NM_001105203,CR607256,CR615259,CR616457,CR618456,CR620448,CR749671,DA099897,DA131200 NP_001098673,NP_001098674,NP_001098675,NP_055143,CAI12718,CAI12719,CAI12720,CAI12721,EAW53069,EAW53070,EAW53071,EAW53072,CAF86864,BAA77507,CAB45702,AAH01045,AAH04293,AAH52277,CAE45718,CAH18462,Q5T9U9,Q5T9V0,Q5T9V2,Q68CX2,Q9BT86,Q9BVN2,ABM84548,ABM86311 Hs.226499 DKFZp761A1822|NESCA protein-coding 1351272 RUSC2 RUN and SH3 domain containing 2 17081983,15796781,15489334,12477932,9205841 9853 BX647690,AL133476,CH471071,AB002373,BC029647,BC064843,BC082245,BC132766,BC132770,BC146654,BC150211,BC150262,NM_014806 Q8N2Y8,NP_055621,CAH70650,EAW58377,BAA20830,AAH29647,AAH64843,AAH82245,AAI32767,AAI32771,AAI46655,AAI50263 Hs.493796 Iporin|KIAA0375 protein-coding 68537 RUVBL1 RuvB-like 1 (E. coli) 1580863 10966108,9843967,9813143,9588198,18358808,18285460,18087039,17157868,17060327,16230350,15647280,15635413,15489334,15196461,14966270,14702039,14695187,14675489,14615539,14506706,12963728,12477932,11839798,11080158,11027681,10902922,10882073,10524211,10428817,9774387,9373149,9196036,8125298,1602151,11509179,16189514,17353931,14743216,12417735,15829968 8607 NM_003707,AC069419,AF380344,CH471052,AB012122,AF070735,AF099084,AJ010058,AK092163,AK222563,AK222575,BC002993,BC012886,BT007057,CR601126,DQ469310,Y18418 NP_003698,AAM45570,EAW79323,BAA28169,AAC77819,AAD04427,CAA08986,BAD96283,BAD96295,AAH02993,AAH12886,AAP35706,ABF13334,CAB46271,Q9Y265,ABM82374,ABM85553 Hs.272822 GDB:9956019 ECP54|NMP238|Pontin52|RVB1|TIH1|TIP49|TIP49A ruvb-like protein 1 protein-coding 1315165 RUVBL2 RuvB-like 2 (E. coli) This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. 1580863 10428817,10966108,10524211,11256614,18358808,17657734,17157868,16699503,16381901,16303743,16230350,16189514,16157330,15829968,15647280,15635413,15489336,15489334,15231747,15196461,14966270,14702039,14615539,12963728,12665801,12477932,11713276,11230166,11080158,11076863,10998447,10882073,10810093,11509179,11839798,17353931,12171929,12417735,14743216 10856 NG_000019,AC008687,CH471177,CQ782490,AB024301,AF124607,AF151804,AF155138,AK027762,AK057498,AK074542,AL136743,BC000428,BC004531,BC008355,CR533507,CR590196,CR590274,CR592274,CR592530,CR592825,CR596398,CR598127,CR602552,CR602932,CR607216,NM_006666,CR608075,CR607731,CR607824,CR610456,CR613453,CR614252,CR616279,CR619641,CR621656,CR622065,CR622876,CR625095,Y18417 NP_006657,EAW52426,EAW52427,EAW52428,EAW52429,EAW52430,EAW52431,CAF85776,BAA76708,AAF87087,AAD34041,AAD38073,BAC11048,CAB66677,AAH00428,AAH04531,AAH08355,CAG38538,CAB46270,Q9Y230,CAL38511,ABM82318,ABM85494 Hs.515846 GDB:9958411 CGI-46|ECP51|REPTIN|RVB2|TIH2|TIP48|TIP49B protein-coding 1346086 RVNP2 retroviral sequences NP2 3600636 6255 M15971 GDB:119582 protein-coding 732573 RWDD1 RWD domain containing 1 16189514,15489334,15146197,14574404,12477932,10810093,8889548 51389 NM_016104,NM_001007464,NM_015952,AL121953,CH471051,AF092134,AF132958,AI129713,AK290727,BC008693,BC012534,BC015802,BQ001584,CA422968,CF128570,CN363729 NP_057188,NP_001007465,NP_057036,CAC14427,EAW48221,EAW48222,AAD40376,AAD27733,BAF83416,AAH15802,Q9H446,ABM83361,ABM83362,ABM83363,ABM86573 Hs.532164 CGI-24|PTD013 small androgen receptor-interacting protein protein-coding 1343850 RWDD1L1 RWD domain containing 1-like 1 445273 1354057 RWDD1P1 RWD domain containing 1 pseudogene 1 404551 1314728 RWDD2A RWD domain containing 2A 15489334,14574404,12477932,7829101 112611 NM_033411,AL049699,CH471051,AW023870,BC010930,BC104816,BC112003,DC377982 NP_219479,CAB52345,EAW48665,EAW48666,AAH10930,AAI04817,AAI12004,Q9UIY3,ABM83592,ABM87092 Hs.423336 MGC13523|MGC138208|RWDD2|dJ747H23.2 protein-coding 1314557 RWDD3 RWD domain containing 3 17956732,16710414,16381901,15489336,15489334,12477932,11230166,11076863,7566098 25950 NM_015485,AC092802,CH471097,AA336253,AA825527,AL050062,BC010936,BC016307,BC065813,BC125142,BU858771,BX537497,BX648581,CR533493,DC409838 NP_056300,EAW73019,EAW73020,EAW73021,EAW73022,EAW73023,CAB43254,AAI25143,CAG38524,Q08AJ7,Q0JTM7,Q9Y3V2,CAL37651,CAL38135 Hs.709591 DKFZP566K023 protein-coding 1605847 RWDD4A RWD domain containing 4A 16189514,15815621,15489334,14702039,12477932,9847074 201965 NM_152682,AC108477,CH471056,AK021702,BC017472,BC067752,BC107432,CR599273,CR606158,CR606628,CR610616,CR615824,CR626168,DB530118 NP_689895,EAX04688,AAH17472,AAH67752,AAI07433,Q6NW29 Hs.133337 FAM28A|MGC10198 protein-coding 1351067 RXFP1 relaxin/insulin-like family peptide receptor 1 1580863 18079195,17158203,17148455,16963451,16507880,16303766,16051677,15956719,15956698,15956688,15956684,15722441,15695505,15566402,15465925,15240635,14742692,14702039,14633277,12506116,12477932,11809971,11517286,10935549 59350 NM_021634,AC019341,AC107219,AC108017,AC121161,CH471056,AB208943,AF190500,AK122647,AY899848,AY899849,AY899850,BC112142,BC113617,BX647975,BX647980,BX647985 NP_067647,AAY41039,EAX04856,EAX04857,BAD92180,AAG17167,AAX85196,AAX85197,AAX85198,AAI12143,AAI13618,Q4W5D9,Q59H16,Q9HBX9 Hs.591686 LGR7|LGR7.1|LGR7.10|LGR7.2|MGC138347|MGC142177|RXFPR1 leucine-rich repeat-containing g protein-coupled receptor 7 protein-coding 1319797 RXFP2 relaxin/insulin-like family peptide receptor 2 The receptors for glycoprotein hormones such as follicle-stimulating hormone (FSH; see MIM 136530) and thyroid-stimulating hormone (TSH; see MIM 188540) are G protein-coupled, 7-transmembrane receptors (GPCRs) with large N-terminal extracellular domains. Leucine-rich repeat (LRR)-containing GPCRs (LGRs) form a subgroup of the GPCR superfamily.[supplied by OMIM] 1580863,1600187 18073304,18063691,17473281,17437853,17028442,16963451,16926383,16867980,16507880,16051677,15956688,15708846,15579790,14656401,12970298,12506116,12217959,12114498,11809971 1600187 122042 NM_130806,AL138708,AL159161,CH471075,AF403384,AF453828,AY899851 NP_570718,EAX08484,EAX08485,AAL69324,AAL73946,AAX85199,Q3KU23,Q5W0N7,Q8WXD0,AAI46280,AAI48730 Hs.680763 GPR106|GREAT|INSL3R|LGR8|LGR8.1|RXFPR2 protein-coding 1352408 RXFP3 relaxin/insulin-like family peptide receptor 3 1580863 10806363,16507880,15956730,15956688,15489334,15465925,14522968,12477932 51289 NM_016568,AC139777,AY236541,CH471118,AY394501,BC095526,BC113438,BC113440,D88437 NP_057652,AAO92063,EAX10810,AAQ92315,AAH95526,AAI13439,AAI13441,BAA93001,Q502V2,Q9NSD7 Hs.170146 GPCR135|MGC141998|MGC142000|RLN3R1|RXFPR3|SALPR relaxin 3 receptor 1 protein-coding 1348831 RXFP4 relaxin/insulin-like family peptide receptor 4 GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM] 16710414,16507880,15956688,15525639,15489334,15465925,14623098,14530218,14522967,12477932,12044878 339403 NM_181885,AB065617,AB083593,AL355388,AX148192,CH471121,AY170824,AY288415,AY394502,BC101507,BC101509,DN693323,EU432129 NP_871001,BAC05844,BAB89306,CAH72626,EAW53020,AAO17676,AAP72124,AAQ92316,AAI01508,AAI01510,ABY87928,Q8TDU9 Hs.449914 GPCR142|GPR100|MGC126556|MGC126558|RLN3R2|RXFPR4 relaxin 3 receptor 2 protein-coding 736929 RXRA retinoid X receptor, alpha Retinoid X receptors (RXRs) and retinoic acid receptors (RARs), are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors exert their action by binding, as homodimers or heterodimers, to specific sequences in the promoters of target genes and regulating their transcription. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. 1643104,1643105,1643109,1643108,1643114,1643115,1580863,1643106,1643107 16494845,16169070,15635645,15608692,15544927,15509776,15494375,15285879,15255287,15231748,15171703,15131121,15082790,15073272,15047147,15006913,14981089,14761960,14738865,14705796,14671211,12969790,12914524,12874288,12771132,12576329,12514092,12485829,12477932,12393611,12297106,12235159,12145331,12117567,12097375,12048211,7990953,12040021,1310260,1651173,12037571,18375961,18234786,18217139,18162523,18003614,17905826,17900311,17451432,17433303,17351148,17341859,17272748,17272513,17170071,17038419,17018855,17008383,16912044,16806672,16574651,16517099,10874028,10872826,10866662,10854698,10786636,10748178,10698945,10694476,10594021,10567404,10517671,10490654,10428836,10393239,10383413,10361124,10347167,10195690,10082530,10075655,9918848,9837884,9812988,9795230,9727070,9717844,9698548,9694878,12039952,11981034,11972046,11929748,11855864,11851396,11839661,11739747,11714715,11641790,11450851,11439184,11259580,11014615,10908304,10882139,10882070,9653119,9632676,9628876,9491782,9489701,9452433,9440806,9267036,9115274,9110174,9083083,9013544,8887632,8670810,8622986,8619474,8616895,8301142,8257089,8114692,8034312,8027277,7925381,7870181,7838715,7776974,7760929,7760852,7758108,9692544,7746322,7705655,7667283,7566127,7481822,2159111,1331778,1314167,1311101,1310351,10610177,16189514,9368056,12943985,14980220,14578865,11158331,12612084,11574675,10835357,9920895,15829977 1643104,1643105,1643109,1643108,1643114,1643115,1643106,1643107 6256 BC009882,BC031356,BC063827,BC096246,NM_002957,AC156789,AL354796,AL669970,AL683798,CH471090,DQ303444,AF052092,AK131192,AK131513,BC007925,BC096247,BC096248,BC110998,BC117513,CR593545,U66306,X52773 AAH07925,AAH63827,NP_002948,EAW88122,EAW88123,EAW88124,EAW88125,ABB96254,AAI10999,AAC31116,CAA36982,O75798,P19793,Q5VYG4,Q6P3U7,Q969J7,ABZ92182 Hs.590886 GDB:127878 FLJ16020|FLJ16733|MGC102720|NR2B1 retinoid x receptor alpha protein-coding 735628 RXRB retinoid X receptor, beta This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). This receptor forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. The gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined. 1580863 7990953,1662118,18375961,18217139,17916375,17389020,17341859,16189514,15635645,15608692,15589691,15489334,15207008,14985366,14574404,12549917,12514092,12477932,12403842,12175732,11840500,11839661,11782480,11278635,10611353,10594021,10187832,9727070,9627117,9373149,9267036,9150186,9013766,8889548,8670810,8381386,8257090,8125298,8034312,7758108,7705655,7556191,7481822,1514958,1331778,1315958,1310259,10965896,9346901 6257 NM_021976,AF065396,AF120161,AL645940,AL662824,AL844527,CH471081,CR354565,CR759733,CR936877,AB209244,AK225842,BC001167,BM982876,BT007280,CR618812,M84820,X63522,X65463,X66424 NP_068811,AAC18599,AAD13794,CAI18064,CAI18066,CAI17612,CAI17614,CAI41836,CAI41837,EAX03679,CAQ11082,CAQ11083,CAQ10298,CAQ10299,CAQ09064,CAQ09065,BAD92481,AAH01167,AAP35944,AAA60293,CAA45087,CAA46456,P28702,Q06310,Q4VXY7,Q59G65,Q5JP92,Q5STP9,Q5STQ1 Hs.388034 GDB:128801 DAUDI6|H-2RIIBP|MGC1831|NR2B2|RCoR-1 retinoid x receptor beta protein-coding 733408 RXRG retinoid X receptor, gamma This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 8034312,18269685,17272748,17195188,16710414,16197915,16189514,16169070,15635645,15608692,15489334,15299084,15186611,12615696,12514092,12477932,12444914,12361685,12082103,11839661,11641790,11397877,9794455,9150186,9147069,9143002,8889548,8616895,8127707,7806300,1312497,1310259 6258 NM_006917,NM_001009598,AL160058,CH471067,AK125497,AL538345,BC012063,BM684530,BM728015,CR456705,CR596807,U38480 NP_008848,NP_001009598,CAC00596,EAW90745,AAH12063,CAG32986,AAA80681,P48443,Q6IBU7 Hs.26550 GDB:128802 NR2B3|RXRC retinoid x receptor gamma protein-coding 1605404 RY1 putative nucleic acid binding protein RY-1 7931148,17081983,15815621,15489334,12477932,9085842 11017 NM_006857,AC019206,CH471053,AK291128,BC017890,CR591484,CR600623,CR609338,CR617839,CR623125,X76302 NP_006848,AAY14866,EAW99837,EAW99840,BAF83817,AAH17890,CAA53949,Q8WVK2 Hs.54649 GDB:9956162 protein-coding 1316054 RYBP RING1 and YY1 binding protein 1580863 10369680,15489334,14765135,14691460,12477932,12411495,11953439,11395500,11171983,16189514,8943360 23429 NM_012234,AC104330,CH471055,AB029551,AF085840,AF179286,AF227959,AL049940,AY228125,BC014959,BC036459,CR626146 NP_036366,EAW65515,EAW65516,EAW65517,BAA89486,AAD51858,AAK63197,AAO73587,AAH14959,AAH36459,Q8N488,ABM83140,ABM86336 Hs.694786 GDB:9956547 AAP1|DEDAF|YEAF1 protein-coding 1346179 RYK RYK receptor-like tyrosine kinase The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. Two alternative splice variants have been identified, encoding distinct isoforms. 1580863 8386829,8726462,17672918,16681403,15454084,15146197,12477932,11956217,10454588,8390040,8247543,7613029,2247464 6259 NM_001005861,NM_002958,AC096967,AC107310,AC108742,CH471052,AB209405,BC021700,BQ003586,CN309980,S59184,X69970,X96588 NP_001005861,NP_002949,EAW79155,BAD92642,AAH21700,AAB26341,CAA49591,CAA65406,P34925,Q59FQ5,Q8WTZ8,AAI48615,AAI53091 Hs.654562 GDB:217730 D3S3195|JTK5|JTK5A|RYK1 protein-coding 1348938 RYKP RYK receptor-like tyrosine kinase pseudogene 10066802,8386829,8247543,2247464 6260 NG_005810,AC087742 GDB:222818 JTK5|JTK5B|RYKL1 pseudo 1316413 RYR1 ryanodine receptor 1 (skeletal) This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. 1580863 9030597,7511586,11206130,2298749,18312400,18212565,18092949,17707769,17538032,17376685,17293538,17259277,17226826,17190947,17071618,17033962,16958053,16835904,16621918,16484216,16380615,16372898,16284304,16239337,16084090,15972723,15774471,15689621,15564033,15448513,15342556,15299003,15226293,15210166,15175001,15057824,15033925,14999498,14985404,14722100,14660561,14641996,14596927,14532276,14500992,12810060,12709444,12704193,12565913,12509428,12509414,12496092,12223488,12213830,12136074,12124989,12112081,12066726,12059893,12045220,11943213,11928716,11709545,11673493,11673462,11668625,11562475,11279144,11237759,11171121,10737800,10612851,10531621,10484775,10212196,10051009,10026226,9890886,9607712,9497245,9450902,9389851,9298970,9199552,9138151,9066328,8661021,8432525,8380342,8220423,8220422,8012359,7881417,7849712,7829078,7751854,7556644,1862346,1774074,1639409,1354642,14638677,11069905,9287354 6261 NM_000540,NM_001042723,AB066217,AB066218,AC005933,AC011469,AC067969,CH471126,M91455,S78717,U48508,AB209425,AF075460,BI000785,BP231595,J05200 NP_000531,NP_001036188,BAB83891,BAB83892,AAC71651,AAF66076,EAW56795,EAW56796,EAW56797,EAW56798,AAA60295,AAB21245,AAC51191,BAD92662,AAC26798,AAA60294,O75591,P21817,Q59FN5,Q8WYM7,Q8WYM8 Hs.466664 GDB:120359 CCO|MHS|MHS1|RYDR|RYR|SKRR protein-coding 1317019 RYR2 ryanodine receptor 2 (cardiac) This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. 1599247,1599251,1599243,1580863 17259277,17200109,17062961,17052226,16825580,16818210,16769042,16601229,16483256,16272262,16188589,15887426,15851612,15749201,15591045,15466642,15231748,15215235,15197150,15147738,15054223,15047862,15033925,15016728,14722100,14593104,14571276,10830164,15044459,10463072,17967164,17921453,17875969,17693412,17558603,17556193,17330843,17322175,17313373,12959641,12919952,12887973,12754204,12576471,12459180,12446682,12443530,12213830,12106942,12015469,11897558,11807805,11673493,11673462,11576544,11352932,11237759,11208676,11159936,11157710,10788707,10081705,9607712,9148749,8809036,8589694,8406504,7592856,2380170 1599247,1599251,1599243 6262 AJ300340,AJ300429,AL356773,AL359924,AL365332,AL391809,AL442065,AL445473,AL513130,CH471098,AJ002511,X91869,X98330,Y08218,NM_001035 NP_001026,CAC18855,CAI22065,EAW70069,EAW70070,EAW70071,CAA05502,CAA62975,CAA66975,CAA69395,Q5VWP1,Q92736 Hs.109514 GDB:125278 ARVC2|ARVD2|VTSIP protein-coding 69015 RYR3 ryanodine receptor 3 Ryanodine receptors, such as RYR3, are intracellular calcium ion release channels responsible for the release of Ca(2+) from intracellular stores following transduction of many different extracellular stimuli.[supplied by OMIM] 1580863 9395096,14970260,14702039,14550562,12565913,12471029,12354756,12213830,11598113,11171121,10508160,9607712,9515741,9384575,8276408,7556644,7523185,1320290 6263 NM_001036,AC010809,AC011938,AC055874,AC067793,AC087638,CH471125,X74270,AB001025,AJ001515,AJ002512,X74269 NP_001027,EAW92276,EAW92277,EAW92278,EAW92279,EAW92280,CAA52327,BAA23795,CAA04798,CAA05503,CAA52326,Q15413,Q8N1K2,Q8N212 Hs.369250 GDB:138451 protein-coding 1349517 S100A1 S100 calcium binding protein A1 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. 1579977,1579960,1580863 12804600,10913138,1998503,14638689,18193148,17512776,17483815,17396138,16969478,16760135,16710414,16189514,16169012,15780567,15654019,15608682,15578088,15489334,15147519,12960148,12721284,12477932,12042313,11909974,11893905,11829317,11007787,10869553,10753920,10510252,9926943,9925766,9920416,9883272,9803314,9645951,9468301,9298970,8898862,8894274,8701470,8641565,8341667,7759097,7620916,4052452,3722149,1384693 1579977,1579960 6271 NM_006271,AL162258,CH471121,M65210,AK126904,BC014392,BC035791,BC072006,BC094843,BT006938,X58079 NP_006262,CAI19674,CAI19675,CAI19676,CAI19677,EAW53301,EAW53302,AAH14392,AAP35584,CAA41107,P23297,Q5T7Y4,Q5T7Y5,Q5T7Y6 Hs.515715 GDB:126839 S100|S100-alpha|S100A protein-coding 733247 S100A10 S100 calcium binding protein A10 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. 1831433,18288090,17999956,17824845,17695432,17581860,17510952,17241856,16984913,16890384,16710414,16400147,16230353,15849182,15574370,15489334,15302870,15196694,13679511,12730231,12660155,12645529,12477932,12235365,12198146,12163506,11939791,11590242,11571284,10777578,10559334,9886297,9047302,9036930,8898866,8701470,8341667,8276421,7821789,7759097,2148288,1533380,1533123,1386341,16189514,9369453,9202034,11258932 6281 NM_002966,AL450992,CH471121,CQ878718,CQ891323,AK291073,BC015973,BC105786,BE378444,BI827113,BQ050753,CR542162,CR610742,D28387,M38591,M81457 NP_002957,CAI12164,EAW53397,EAW53398,EAW53399,CAH59521,CAH68677,BAF83762,AAH15973,AAI05787,CAG46959,BAA05753,AAA58426,AAA58404,P60903,Q6FGE5,ABM84481,ABM84482,ABM84483,ABM87802,ABM87803 Hs.143873 GDB:134557 42C|ANX2L|ANX2LG|CAL1L|CLP11|Ca[1]|GP11|MGC111133|P11|p10 s-100 related protein, clone 42c protein-coding 1323591 S100A11 S100 calcium binding protein A11 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. 1580863 10913138,10851017,16130169,17932043,17624315,17537172,17476473,17000675,16964243,16710414,15701847,15489334,15322223,15302935,15241500,15138568,15051732,14962086,14623863,12704215,12645011,12477932,11873942,10673436,10486266,9287141,8985590,8557678,7889529,7759097,7490069,1286667,16189514,11258932 6282 NM_005620,AL591893,CH471121,BC001410,BC014354,BT009912,CR594638,CR619623,D38583,D49355,D50374,X80201 NP_005611,CAH72895,EAW53392,AAH01410,AAH14354,AAP88914,BAA07597,BAA08354,BAA23325,CAA56492,P31949,ABM82672,ABM85851 Hs.417004 GDB:5218372 MLN70|S100C s100 calcium binding protein a11 (calgizzarin) protein-coding 1352862 S100A11P S100 calcium binding protein A11 pseudogene 30013 O60417 GDB:11510892 1352115 S100A12 S100 calcium binding protein A12 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. 1580863 7626002,11522286,8619876,18257809,18050248,17852869,17787039,17328050,17158877,16864903,16804393,16710414,16253391,15489334,15077313,12777802,12740341,12699958,12697438,12477932,12218151,12042313,11884210,11884208,11856825,11134923,10666601,10399917,8985590,8769108,8619860,7759097 6283 NM_005621,AL591704,CH471121,D83657,X98289,BC070294,D49549,D83664,X97859 NP_005612,CAI19495,EAW53332,BAA12030,CAB94792,AAH70294,BAA08497,BAA12036,CAA66453,P80511 Hs.19413 GDB:5218374 CAAF1|CAGC|CGRP|ENRAGE|MRP6|p6 s100 calcium binding protein a12 (calgranulin c) protein-coding 1312636 S100A13 S100 calcium binding protein A13 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 8878558,17374362,17077500,16773219,16710414,16341674,15821778,15635413,15489334,15033494,14702039,12746488,12645008,12477932,12135982,12118070,11432880,10722710,9712836,8985590,7759097,7566098,16189514 6284 NM_001024210,NM_005979,NM_001024211,NM_001024212,NM_001024213,XM_001724603,AL162258,BX470102,CH471121,AA366085,AK097132,AY987392,BC000632,BC068064,BC070291,BM762088,BM913375,BT006724,BX472819,CK817939,CR542149,X99920 NP_001019381,NP_005970,NP_001019382,NP_001019383,NP_001019384,XP_001724655,CAI14760,EAW53296,EAW53297,EAW53298,EAW53299,EAW53300,AAX89402,AAH00632,AAH68064,AAH70291,AAP35370,CAG46946,CAA68188,Q99584 Hs.516505 GDB:5218376 protein-coding 1344968 S100A14 S100 calcium binding protein A14 S100A14 is a member of a subfamily of proteins related by Ca(2+)-binding motifs to the EF-hand Ca(2+)-binding protein superfamily.[supplied by OMIM] 1580863 16710414,16189514,15489334,12477932,12477722,11944983 57402 NM_020672,AF426828,BX470102,CS185562,AY007220,BC005019 NP_065723,AAM19206,CAI14759,CAJ42743,AAG01893,AAH05019,Q9HCY8 Hs.288998 GDB:10796217 BCMP84|S100A15 protein-coding 1315577 S100A16 S100 calcium binding protein A16 1580863 16710414,16189514,15635413,15489334,15302935,14684152,12477932,9417904 140576 AJ585980,BX470102,CH471121,AK290804,AY221961,AY762098,BC010541,BC019099,BC095462,U92985,NM_080388 NP_525127,CAE51865,CAI14758,EAW53303,EAW53304,BAF83493,AAP46152,AAW88319,AAH10541,AAH19099,AAH95462,Q96FQ6,ABM84516,ABM85865 Hs.515714 AAG13|DT1P1A7|MGC17528|S100F protein-coding 1353498 S100A2 S100 calcium binding protein A2 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. 1580863 15941720,15489334,15467767,14519656,12477932,12445212,11956617,11813862,11260185,10951287,10837826,10788426,16189514,16015083,10429967,9668057,9468301,9274623,9092943,8701470,8341667,7759097,9481475,15313892,17239974,17123307,17077493,17067748,17032501,16710414,16449968,16367903,16273244,16232198,1372446,1286667 6273 NM_005978,BX470102,CH471121,Y07755,AF086003,AW195797,BC002829,BC105787,BQ953250,M87068 NP_005969,CAI14756,CAI14757,EAW53305,CAA69033,AAH02829,AAI05788,P29034 Hs.516484 GDB:211118 CAN19|MGC111539|S100L protein-coding 732253 S100A3 S100 calcium binding protein A3 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. 1580863 17353931,18083705,16710414,15489334,12477932,12470658,12136135,12045193,10837826,9920417,9920416,9468301,9274623,8701470,8672544,8341667,7759097,7673133,16189514 6274 NM_002960,BX470102,CH471121,Z18950,BC012893,BT006955,CR542163,CR542185,Z18948 NP_002951,CAI14755,EAW53306,EAW53307,EAW53308,EAW53309,CAA79473,AAH12893,AAP35601,CAG46960,CAG46982,CAA79471,P33764,ABM82359,ABM85534 Hs.557609 GDB:226518 S100E protein-coding 69040 S100A4 S100 calcium binding protein A4 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. 16554030,16489073,16367903,16265347,16243835,16097057,15956747,15852272,15788416,15781852,15713996,15635413,15608682,15579771,15489334,15334597,15289939,15116098,14713104,14606958,14531065,12942774,12756252,12645008,12532418,12517790,12477932,12445462,12439718,12379109,12239456,12168821,12147716,11994292,11875708,11836260,11786397,11752788,11527429,11278647,11278510,10869553,10753920,9926943,9405067,8341667,8120097,7759097,7607566,3155863,1482346,1384693,1329089,16189514,15543138,8204608,14640694,15479433,14679171,18154362,17673926,17638890,17565747,17550972,17504119,17497677,17328050,17276942,17223348,17219414,17200116,17051636,17032501,16990429,16984379,16948116,16865243,16710414,16685438,16571622 6275 NM_019554,NM_002961,BX470102,CH471121,Z18950,Z33457,AK292083,AV735911,BC000838,BC016300,BC024974,CB109749,CR450345,M80563 NP_062427,NP_002952,CAI14754,EAW53310,EAW53311,EAW53312,EAW53313,EAW53314,EAW53315,CAA79474,CAA83880,BAF84772,AAH00838,AAH16300,CAG29341,ABM83714,AAA51920,P26447,ABM87034 Hs.654444 GDB:119748 18A2|42A|CAPL|FSP1|MTS1|P9KA|PEL98 s100 calcium-binding protein a4 protein-coding 1319090 S100A5 S100 calcium binding protein A5 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. 1580863 16710414,12645008,12477932,11855835,11510959,10882717,9920416,8701470,8341667,7759097 6276 NM_002962,BX470102,CH471121,Z18949,Z18950,BC093955,BC093957,Z18954 NP_002953,CAI14753,EAW53316,EAW53317,CAA79472,CAA79475,AAH93955,AAH93957,CAA79479,P33763,Q52LE7 Hs.2960 GDB:226517 S100D protein-coding 1354055 S100A6 S100 calcium binding protein A6 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. 1580863 10913138,12577318,12152788,16130169,17726019,17495951,17466273,16710414,16288473,16278400,16157226,15878395,15489334,14584893,12859951,12746458,12601007,12477932,12239456,12042313,11937060,11925593,10037139,9925766,8701470,8341667,7759097,3755724,3036810,2775283,2448309,1999197,1482346,1384693,1299619,16189514,8973570,9578461 6277 AY034480,BX470102,CH471121,J02763,M14300,M18981,BC001431,BC009017,BF726732,BT006965,NM_014624 NP_055439,AAK59702,CAI14752,EAW53318,EAW53319,EAW53320,EAW53321,EAW53322,EAW53323,EAW53324,EAW53325,EAW53326,AAA51905,AAA35886,AAA51906,AAH01431,AAH09017,AAP35611,P06703,ABM85861,ABW03747 Hs.275243 GDB:119048 2A9|5B10|CABP|CACY|PRA s100 calcium binding protein a6 (calcyclin) protein-coding 1321093 S100A7 S100 calcium binding protein A7 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. This protein is markedly over-expressed in the skin lesions of psoriatic patients, but is excluded as a candidate gene for familial psoriasis susceptibility. The exact function of this protein is not known. 1580863 8077703,12421467,12839573,15217497,15568027,10026247,16357139,17560571,17418446,17159909,17136347,17033192,16675044,16236163,15717926,15615860,15489334,15201992,12923069,12704215,12702588,12664160,12477932,12032852,11258932,10737800,10331666,10191275,10190323,9562557,8701470,8618345,1940442,15740587,16082188,10595935,9693957,11782356,18373864,17986321,8526920,7759097,1286667,16189514,17353931 6278 NM_002963,AF050167,AJ012825,AL591704,BR000043,CH471121,AW238300,BC034687,BF090388,BX476368,CR542164,M86757 NP_002954,CAC20409,CAI19502,FAA00017,EAW53327,AAH34687,CAG46961,AAA60210,P31151,ABM82203,ABM85391 Hs.112408 GDB:129731 PSOR1|S100A7c s100 calcium binding protein a7 (psoriasin 1) protein-coding 1346957 S100A7A S100 calcium binding protein A7A 1580863 17625598,17620096,16710414,16682778,12923069,12664160,12477932,11230159,1940442 338324 AY189119,BC040254,NM_176823,AL591704,AY189117,BR000043,CH471121,AJ243672,AJ243673,AY189118 AAO40034,Q86SG5,AAI48487,AAI53083,NP_789793,CAI19499,AAO40032,FAA00014,AAO40033,EAW53328,EAW53329 Hs.442337 NICE-2|S100A15|S100A7L1|S100A7f s100 calcium binding protein a7-like 1 protein-coding 1343763 S100A7L2 S100 calcium binding protein A7-like 2 16710414,12664160 645922 XM_928893,XM_937650,NM_001045479,AL591704,BR000043 XP_933986,XP_942743,NP_001038944,CAI19501,FAA00016,Q5SY68,AAI48519,AAI53116 Hs.647713 S100a7b protein-coding 1353559 S100A7L3 S100 calcium binding protein A7-like 3 127481 XM_060508 1349531 S100A8 S100 calcium binding protein A8 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. 1580863 17050004,16979015,16806487,16710414,16690079,16613612,16573830,16297907,16216873,16169070,15816004,15642721,15598812,15489334,15331440,15069705,13130482,12937135,12833525,12748257,12719414,12710851,12704215,12697438,12645005,12626582,12553726,12489193,12480428,12477932,12218151,12137245,11895856,11867565,11708798,11564187,11435486,11141076,2149559,17353931,3313057,18060880,18030206,17936757,17895549,17852869,17787039,17644317,17636430,17469085,17429438,17197440,17090475,17069562,11058579,10837826,10771424,10571075,9920411,8701470,8619876,8423249,8400238,8341667,7849642,7759097,3561500,3405210,3267695,2039599,1326551,1286667,16189514 6279 NM_002964,A12027,AL591704,CH471121,M21005,AK291328,BC005928,BT007378,CR407674,X06234,Y00278 NP_002955,CAA01001,CAI19497,EAW53330,EAW53331,AAA36327,BAF84017,AAH05928,AAP36042,CAG28602,CAA29580,CAA68390,P05109,Q9UCM6,ABM84421,ABM87366 Hs.416073 GDB:120569 60B8AG|CAGA|CFAG|CGLA|CP-10|L1Ag|MA387|MIF|MRP8|NIF|P8 s100 calcium binding protein a8 (calgranulin a) protein-coding 1352981 S100A9 S100 calcium binding protein A9 The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. 1580863 2149559,17353931,3313057,18060880,18030206,17936757,17895549,17852869,17787039,17636430,17429438,17328050,17237603,17222807,17187679,17126494,17095618,17090475,17050004,16979015,16806487,16710414,16690079,16682612,16613612,16573830,16297907,16253391,16216873,15905572,15740587,15642721,15598812,15489334,15277376,15075348,15069705,15040889,14654085,13130482,12937135,12833525,12748257,12748056,12719414,12710851,12704215,12645005,12626582,12553726,12489193,12477932,12218151,12167632,12137245,11867565,11851337,11803621,11708798,11564187,11058579,10837826,10612291,10551823,10464253,9920411,9570563,8701470,8423249,8400238,8341667,7759097,3405210,2656677,2478889,1562590,1286667 6280 M26311,X06233,NM_002965,A12029,A12031,A12032,AF237581,AF237582,AL591704,CH471121,M21064,AF086362,BC047681,CR542207,CR542224 AAA68480,CAA29579,P06702,NP_002956,CAA01002,CAA01003,CAA01004,AAF62536,AAF62537,CAI19494,EAW53333,EAW53334,AAA36326,AAH47681,CAG47003,CAG47020 Hs.112405 GDB:120570 60B8AG|CAGB|CFAG|CGLB|L1AG|LIAG|MAC387|MIF|MRP14|NIF|P14 s100 calcium binding protein a9 (calgranulin b) protein-coding 737117 S100B S100 calcium binding protein B The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimer's disease, Down's syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. 1580863 17678654,17661202,17660747,17624933,17579612,17536784,17525977,17408991,17396138,17348038,17264538,17199889,17091777,17043297,17023485,17020600,17010455,17008613,16931519,16511125,16340181,16143320,15820773,15781852,15708543,15670788,15556616,15489334,15306236,15257081,15236402,15178678,14997170,14967825,14699277,14675567,14661952,14642437,14530578,12927678,12746458,18181515,18173564,18039581,17984939,17984926,17984171,17726019,17719207,17705023,9519411,10913138,8202493,18193148,12645009,12636931,12630517,12569284,12527118,12505619,12493777,12490005,12480931,12477932,12470955,12469878,12377780,12351263,12042313,11969402,11888280,11809917,11527429,11312263,11264299,10876243,10830953,10510252,10399917,9925766,9923610,9883272,9774336,9335118,8894274,8750867,8701470,8341667,7759097,7566098,6487634,4031854,2964086,2833519,2530061,2394738,1998503,16189514,10394361 6285 NM_006272,AP000217,AP000339,AP001760,CH471079,M59488,AA310307,BC001766,BC041935,CR542123,EB386131 NP_006263,EAX09267,EAX09268,EAX09269,EAX09270,AAA60367,AAH01766,CAG46920,P04271,ABM83417,ABW03496 Hs.422181 GDB:120360 NEF|S100|S100beta s100 protein, beta polypeptide protein-coding 1344914 S100G S100 calcium binding protein G This gene encodes calbindin D9K, a vitamin D-dependent calcium-binding protein. This cytosolic protein belongs to a family of calcium-binding proteins that includes calmodulin, parvalbumin, troponin C, and S100 protein. In the intestine, the protein is vitamin D-dependent and its expression correlates with calcium transport activity. The protein may increase Ca2+ absorption by buffering Ca2+ in the cytoplasm and increase ATP-dependent Ca2+ transport in duodenal basolateral membrane vesicles. 1610358,15772651,15489334,15217781,12477932,11076863,10417310,8308886,8045984,7817802,2009668,1379540 795 NM_004057,AL445467,CH471074,L13042,BC112174,L13220,X65869 NP_004048,CAI40084,EAW98916,AAA35637,AAI12175,AAA35638,CAA46699,P29377,AAI11918 Hs.639 CABP1|CABP9K|CALB3|MGC138379 protein-coding 1344746 S100P S100 calcium binding protein P The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. 1580863 1633809,15632002,15313892,18162774,17875703,17539915,17486081,17448597,17000674,16189514,16061848,16047742,15489334,15213440,14716296,14672411,14617629,12808036,12746458,12507480,12477932,12042313,12021435,11747429,11127925,10924150,9784376,8701470,8341667,7759097,1540168 6286 AC093323,NM_005980,CH471131,AF539739,AI202505,AY423724,BC006819,BI259919,BT007289,X65614 NP_005971,EAW82384,AAO41114,AAS00487,AAH06819,AAP35953,CAA46566,P25815,Q5J7W2,ABM82014,ABM85196 Hs.2962 GDB:134405 MIG9 protein-coding 1604319 S100PBP S100P binding protein 15632002,18089492,14702039,12477932 64766 NM_001017406,NM_022753,AC114493,CH471059,AK022965,AK025811,AK090711,BC015175,BX647667,BX647916,CR611064,CR626594 NP_001017406,NP_073590,EAX07503,EAX07504,EAX07505,BAB14335,AAH15175,CAI46038,Q96BU1 Hs.440880 DKFZp313K2325|FLJ12903|S100PBPR protein-coding 1348648 S100Z S100 calcium binding protein Z Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM] 737633,1580863 15489334,12477932,11747429 737633 170591 NM_130772,AC027342,AC114962,CH471084,AF437876,BC022320,BX281742,CD368348 NP_570128,EAW95783,EAW95784,AAL30893,AAH22320,Q8WXG8 Hs.482563 Gm625|S100-zeta s100 calcium binding protein, zeta protein-coding 1348454 S11 surface antigen (X-linked) 2 6267 GDB:120361 1345821 S12 surface antigen (X-linked) 3 6268 GDB:120362 1346165 S1PR1 sphingosine-1-phosphate receptor 1 The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. 1304283,1580863,1581747,1357201,1580913 8626678,17918267,17331465,17237497,16963454,16926156,16344560,16319133,16195373,16148028,15728452,15710622,15699128,15626732,14988150,14500646,12742228,12480944,12477932,12087059,12038970,11967277,11915348,11915345,11861422,11854302,11741892,11698050,11583630,11230698,11214319,11032855,10982820,10921915,10818441,10555146,10488065,10383399,9705355,9488656,9409733,8889548,2160972,16189514 1304283,1581747,1357201,1580913 1901 NM_001400,AL109741,AY011725,CH471097,AF022137,AF233365,BC018650,BI598518,BU677564,CF994197,CR541786,CR542269,CR977007,DB132417,DB572979,M31210 NP_001391,CAI21861,AAK01993,EAW72927,EAW72928,AAC51905,AAF43420,AAH18650,CAG46585,CAG47065,AAA52336,P21453,Q7L853,Q9NYN8 Hs.154210 GDB:9837406 CHEDG1|D1S3362|ECGF1|EDG-1|EDG1|S1P1 protein-coding 1343937 S1PR2 sphingosine-1-phosphate receptor 2 This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. This protein participates in sphingosine 1-phosphate-induced cell proliferation, survival, and transcriptional activation 68254,1580863 10617617,18088600,17710232,17431187,15764699,15489334,15208267,12648236,12477932,12445827,11967277,11915348,11331101,10908314,10818441,10488065,10383399,9988698,8878560,8087418 68254 9294 NM_004230,AC011511,AY262688,CH471106,AF034780,BC069598,BF513287,BG055846 NP_004221,AAP20652,EAW84081,EAW84082,AAC98919,AAH69598,O95136 Hs.655405 GDB:9955647 AGR16|EDG-5|EDG5|Gpcr13|H218|LPB2|S1P2 protein-coding 1352881 S1PR3 sphingosine-1-phosphate receptor 3 This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. 632521,1580863 9409733,10617617,10555146,8649355,17395891,17331465,16527273,15894172,15489334,12763936,12648236,12477932,12039947,11915348,11854302,10908314,10818450,10818441,10818438,10794715,10712250,10683250,10537322,10488065,10383399,10216094,9988698,8878560 632521 1903 NM_005226,AL772202,AY322540,CH471089,X83864,AF022139,AK312798,AL832194,BC060827,BC069579 NP_005217,CAI16743,AAP84353,EAW62758,CAA58744,AAC51906,BAG35658,AAH60827,AAH69579,Q5SQD8,Q99500 Hs.585118 GDB:9837420 EDG-3|EDG3|FLJ37523|FLJ93220|LPB3|MGC71696|S1P3 protein-coding 1312457 S1PR4 sphingosine-1-phosphate receptor 4 This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. 1580863 10679247,9790765,15489334,15298705,12767884,12761884,12648236,12477932,12401211,12270137,12115604,11919175,10753843,16189514 8698 NM_003775,AC011547,AY322537,CH471139,AJ000479,BC014970,CR590635,CR608611,CR610253 NP_003766,AAP84350,EAW69336,EAW69337,CAA04118,AAH14970,O95977 Hs.662006 GDB:9956355 EDG6|LPC1|S1P4|SLP4 protein-coding 733271 S1PR5 sphingosine-1-phosphate receptor 5 The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM] 632648,1580863 17918267,16303743,15530552,15489334,15057824,14702039,12648236,12477932,12427546,12234605,12044878,11705398,11331101,11069896,10799507,16189514 632648 53637 NM_030760,AB083602,AC011461,AF317676,AY262689,CH471106,CQ782630,AF088014,AF331840,AF331841,AF331842,AK074661,AK094880,BC034703,BC067781,CR619597 NP_110387,BAB89315,AAG38113,AAP20653,EAW84113,EAW84114,EAW84115,CAF85890,AAL57041,AAL57042,AAL57043,BAC11119,AAH34703,AAH67781,Q8WXV1,Q8WXV2,Q9H228,ABM82216,ABM84267,ABM85400,ABM87660 Hs.501561 GDB:10449567 EDG8|Edg-8|S1P5|SPPR-1|SPPR-2 protein-coding 1344466 S7 surface antigen (chromosome 7) 2 6264 GDB:120363 1317420 SAA1 serum amyloid A1 1580863 9892621,9815279,7561109,7636186,9823935,12557751,1697614,9252455,11830469,12857601,9605178,7516407,14718574,18299466,17968686,17806085,17676666,17552057,17461519,17329325,17237436,17039310,17039260,17015746,16864904,16737350,16651021,16236134,16219644,16155472,16152805,16120612,16118480,16011988,15972323,15910745,15729583,15561721,15489334,15225640,15188355,15170927,15161744,15018633,14871291,14738910,14696796,12973732,12762136,12762135,12687559,12606051,12477932,12410800,12077270,12056504,12031974,11946204,11592044,10753626,9305847,8995276,8783012,8512321,8188252,7851899,7655463,7115671,6155694,5056669,5055786,4816450,3839415,3800865,3442653,3183061,2890635,2595451,2017667,1971508,1656519,1546977,1259755 6288 CR542241,M10906,M23698,X51439,X51443,NM_199161,AC107948,CH471064,CS081991,X56652,BC007022,BC105796,BG533276,BG567902,BQ691948,CD102084,NM_000331 CAG47037,AAA60297,AAA64799,CAA35804,CAA35808,P02735,Q15423,Q6FG67,ABM83270,ABM83365,ABM86475,ABW03318,NP_000322,NP_954630,EAW68408,EAW68409,EAW68410,EAW68411,CAI95959,CAA39974,AAH07022,AAI05797 Hs.632144 GDB:120364 MGC111216|PIG4|SAA|TP53I4 protein-coding 1351382 SAA2 serum amyloid A2 1580863 16737350,16152805,15170927,14871291,14718574,12857601,12557751,12477932,12456883,12077270,11830469,11485914,10524285,9892621,9823935,9815279,9605178,9252455,8995276,8889548,8783012,8188252,8159722,8089807,7827140,7686132,7636186,7561109,7516407,3950541,3800865,3183061,2890635,1971508,1697614,1656519 6289 NM_030754,NM_001127380,AC090099,CH471064,J03474,L05921,X56653,AK307163,BC020795,BC058008,BU607521,M23699,M23700,M26152,X51440,X51441,X51442,X51444,X51445 NP_110381,NP_001120852,EAW68412,EAW68413,EAW68414,AAB59539,CAA39975,AAH20795,AAA64800,AAA64801,AAA85338,CAA35805,CAA35806,CAA35807,CAA35809,CAA35810 Hs.1955,Hs.654517 GDB:132592 protein-coding 1346983 SAA3P serum amyloid A3 pseudogene 1580863 14718574,12589816,8325654,2558975,1755958 6290 NG_002634,AC090099,S73444,X13895,AY209188 CAA32096,P22614 Hs.454496 GDB:132593 SAA3 pseudo 1316532 SAA4 serum amyloid A4, constitutive 1579981,1580863 14718574,16335952,15489334,12477932,12410800,11809924,11256804,11169201,9815279,8995276,8783012,8325654,8188252,8159722,7775864,7686132,6411718,1740433,1439582,16189514 1579981 6291 NM_006512,AC090099,CH471064,S48983,BC007026,CR541758,M81349 NP_006503,EAW68415,AAB24060,AAH07026,CAG46558,AAA60298,P35542,Q6FHJ4 Hs.654493 GDB:132594 C-SAA|CSAA protein-coding 1352226 SAA@ serum amyloid A1 cluster 1550545 6287 GDB:132285 1606985 SAAL1 serum amyloid A-like 1 12477932 113174 Q96ER3 NM_138421,AC090099,CH471064,AK123457,BC012010,BU150462,CR590267,CR597687,CR601933,CR603614,CR616217,CR623466,CR624243,DR155913 NP_612430,EAW68418,EAW68419,AAH12010,Q96ER3 Hs.591998 FLJ41463 protein-coding 1607039 SAC3D1 SAC3 domain containing 1 16239144,16344560,15342556,15322101,15302935,12477932,9110174,8619474 29901 NM_013299,AP003068,CH471076,AU119957,BC007448,BP253859,CR607647,CR610152,CR614123,U79266 NP_037431,EAW74338,EAW74339,AAB50210,A6NKF1,Q96IJ8,Q99773 Hs.23642 HSU79266|SHD1 protein-coding 733012 SACM1L SAC1 suppressor of actin mutations 1-like (yeast) 11256614,16381901,15489336,14527956,12805586,12477932,11352561,11230166,11214970,11076863,10887188,10048485 22908 BC016559,BC033581,CR749564,NM_014016,AC098476,AJ289880,AJ297357,CH471055,AB020658,AK126434,AK291142,AL136831 AAH16559,CAH18361,Q68D59,Q9NTJ5,CAL37939,NP_054735,CAB96871,CAB95945,EAW64744,EAW64745,EAW64746,BAA74874,BAF83831,CAB66765 Hs.156509 GDB:9957716 DKFZp686A0231|KIAA0851|SAC1 sac1 (supressor of actin mutations 1, homolog)-like (s. cerevisiae) protein-coding 1316383 SACS spastic ataxia of Charlevoix-Saguenay (sacsin) 1580863 10655055,17716690,17290461,16606928,16198375,15985586,15156359,15057823,14718708,14718707,14718706,14702039,12477932,11788093,10610707,9872452 26278 NM_014363,AF193556,AL157766,CH471075,AB018273,AK024708,AK090599,AK125458,BC039418,BX640926,CR606941,CR749427 NP_055178,AAF31262,CAI13922,CAI13923,EAX08323,BAA34450,BAC03486,CAE45964,CAH18265,Q9NZJ4 Hs.159492 GDB:9954724 ARSACS|DKFZp686B15167 protein-coding 1604646 SAE1 SUMO1 activating enzyme subunit 1 9920803,16620772,16631117,16421094,15660128,15489334,15210726,15192080,14702039,12924945,12477932,11481243,11451954,11042152,10217437,16189514,15327968,15546615,10187858 10055 BC018271,BC128518,BC128519,BT007290,CR611635,CR612586,CR622180,CR625745,CR599343,NM_005500,AC008532,AC008755,CH471126,AF046025,AF090385,AF110956,AF161489,AK021978,AK027595,AK055481,AK090645,BC000344,BC003611 AAH18271,AAP35954,Q9UBE0,ABM82677,ABM85858,NP_005491,EAW57460,EAW57461,EAW57462,EAW57463,EAW57464,AAD23902,AAD12785,AAD24433,AAF29104,AAH00344,AAH03611 Hs.515500 GDB:9954941 AOS1|FLJ3091|HSPC140|SUA1 protein-coding 1602133 SAE2 SUMO1 activating enzyme subunit 2 10187858,16679534,16620772,16455490,15660128,15489334,15302935,14702039,12924945,12477932,11481243,11451954,11230166,10217437,9920803,9853615,17353931,16189514,15546615 10054 CR456756,U35832,NM_005499,AC008747,AB015337,AB208872,AF079566,AF090384,AF110957,AK023120,AK024114,AK124730,AL136905,BC003153,BG503066,BG678201,BM556031,BT009781 CAG33037,AAC99992,Q9UBT2,ABM84349,ABW03558,AAP88783,NP_005490,BAA34795,BAD92109,AAD23914,AAD12784,AAD24434,CAB66839,AAH03153 Hs.631580 ARX|FLJ13058|HRIHFB2115|UBA2 protein-coding 733074 SAFB scaffold attachment factor B This gene encodes a DNA-binding protein that has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. This encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of the heat shock protein 27 transcription and also can act as an estrogen receptor corepressor. This gene is a candidate gene for breast tumorigenesis. 1580863 11784858,11509566,11207044,11118435,10933876,10809782,10707955,10212141,9671816,9605873,9328833,8600450,12403786,1324173,14667819,18154639,17643427,17081983,16964243,16475161,16326836,16195251,16169070,15302935,15066997,15057824,14702179,14702039,14587024,14559993,12890497,12837281,12660241,12477932 6294 NM_002967,AC004611,AC011499,AC134303,CH471139,AB208780,AK095736,AK290444,BC020309,BC032055,BC126219,CR749251,L43631,U72355 NP_002958,AAC14667,EAW69161,EAW69162,EAW69163,EAW69164,BAD92017,BAF83133,AAI26220,CAH18107,AAC18697,AAC00056,A0AV56,Q15424,Q68DW3 Hs.23978 GDB:9834067 DKFZp779C1727|HAP|HET|SAFB1 protein-coding 1342747 SAFB2 scaffold attachment factor B2 1580863 17081983,15489334,15345747,15302935,15057824,14702039,14587024,12660241,12477932,8590280 9667 CH471139,AK123246,AW136754,BC001216,BC014784,BC025279,D50928,DB475007,NM_014649,AC004611 AAC14666,EAW69165,AAH14784,AAH25279,BAA09487,Q14151,NP_055464 Hs.655392 KIAA0138 protein-coding 736449 SAG S-antigen; retina and pineal gland (arrestin) Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. 734491,1580863 2550422,7670478,18175313,17680991,17332750,17286855,16481288,15815621,15713799,15295660,15234147,15232620,12824223,12486395,12107411,10952973,10229190,9501883,9020843,8617782,7695743,7566098,3164688,2249983,1917988,1533347,1325454 734491 6295 AC013726,CH471063,M38064,U70962,U70976,AA317634,BQ636469,BQ639460,BX491422,BX537502,BX641043,BX647821,BX647827,DQ980619,DQ980620,X12453,NM_000541 NP_000532,AAY14861,EAW71041,EAW71042,EAW71043,EAW71044,EAW71045,EAW71046,AAP03721,AAC50992,CAD97766,CAE46025,ABJ97141,CAA30983,CAA30984,A0FDN6,P10523,Q15301,Q6MZK5,Q7Z3R3,AAI56657 Hs.32721 GDB:120365 ARRESTIN|DKFZp686I1383 retinal s-antigen protein-coding 1352077 SAGE1 sarcoma antigen 1 This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. 16061876,10919659 55511 NM_018666,AL590618,AL953870,CH471150,AJ278111,BF056519,CD358947 NP_061136,CAI41374,EAW88486,CAB92443,Q9NXZ1 Hs.195292 SAGE protein-coding 1344330 SAI1 suppression of anchorage independence 1 6298 GDB:131403 1320515 SALL1 sal-like 1 (Drosophila) 1599551,1599553,1580863 9425907,18280297,18000979,17910067,17426652,16670092,16545361,16443351,16429401,16344560,16221172,16088922,15342556,15158448,12477932,12200128,12065233,11836251,11751684,11484202,10965108,10928856,10533063,9973281,8975705 1599551,1599553 6299 NM_002968,AC009166,AF017655,AF074949,CH471092,X98833,Y18264,BC113881,BC113906,BC131548,BP229682,DA318592,Y18265 NP_002959,AAB99908,AAF19263,EAW82777,CAB41399,AAI13882,AAI13907,AAI31549,CAB41400,Q14CE9,Q9NSC2 Hs.135787 GDB:4216161 HSAL1|TBS|ZNF794 protein-coding 1350763 SALL1P sal-like 1 (Drosophila) pseudogene 10343095 10698 AJ010104 GDB:9295051 pseudo 1345005 SALL2 sal-like 2 (Drosophila) 1580863 16545361,16189514,15082782,14702039,14507652,12477932,12168954,9205841,8975705,8889548 6297 NM_005407,NG_001332,AE000658,CH471078,AB002358,AF465630,AK001276,BC024245,BC090958,BC136528,BI823697,BM698506,CR614081,X98834 NP_005398,EAW66377,EAW66378,BAA21638,AAL74188,AAH24245,AAH90958,AAI36529,Q8N656,Q9Y467 Hs.416358 GDB:4216258 FLJ10414|HSAL2|KIAA0360|ZNF795|p150(Sal2) protein-coding 1321014 SALL3 sal-like 3 (Drosophila) 1580863 16545361,12477932,10610715 27164 NM_171999,AC099689,AF347021,AJ007421,CH471117,BC148296 NP_741996,AAK18311,CAB65124,EAW66608,AAI48297,Q9BXA9 Hs.700557 GDB:9295053 ZNF796 protein-coding 1351271 SALL4 sal-like 4 (Drosophila) The protein encoded by this gene may be a zinc finger transcription factor. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). 1580863 17623483,17557835,17546590,17256792,16763212,16545361,16411190,16402211,16344560,16086360,15489334,15386473,15342710,15329836,15286162,14702039,12843316,12477932,12395297,12393809 57167 NM_020436,AL034420,CH471077,AI638036,AK001666,AY170621,AY170622,AY172738,BC111714,DB066881 NP_065169,CAB61485,EAW75595,EAW75596,AAO16566,AAO16567,AAO44950,AAI11715,Q6Y8G5,Q6Y8G6,Q9UJQ4 Hs.517113 GDB:11507783 DRRS|HSAL4|MGC133050|ZNF797|dJ1112F19.1 protein-coding 1343473 SAMD1 sterile alpha motif domain containing 1 16159594,12477932 90378 BC030129,BC065477,BC080588,NM_138352,AC022098,CH471106,AY453840,BC007384 AAH07384,AAH30129,AAH65477,AAH80588,Q6SPF0,NP_612361,EAW84396,AAR24087 Hs.140309 GDB:11507785 protein-coding 1351691 SAMD10 sterile alpha motif domain containing 10 16341674,15489334,12477932,11780052 140700 NM_080621,AL118506,CH471077,AI866764,BC041436,BC067362,BM839907 NP_542188,CAC28315,CAI21905,EAW75180,EAW75181,AAH67362,Q9BYL1 Hs.27189 C20orf136|dJ591C20|dJ591C20.7 protein-coding 1353453 SAMD11 sterile alpha motif domain containing 11 737633 16710414,15489334,15146197,14702039,12477932 737633 148398 NM_152486,AL645608,CH471183,AK054643,BC024295,BC033213,BM055062,CN293867,CN342795 NP_689699,CAI15563,CAI15564,CAI15565,CAM12827,CAO03408,EAW56307,BAB70781,AAH24295,AAH33213,Q5SV93,Q96NU1,Q9P0C3 Hs.335293 MGC45873 protein-coding 1344782 SAMD12 sterile alpha motif domain containing 12 17568003,16344560,12477932,10737800,8889548 401474 NM_001101676,NM_207506,AC023590,AP003468,AP003476,AP003493,AP003494,AP003496,CH471060,AK096777,BC121818,BC124554,BF326714,CB241290,DA335826,DA459013,DB228621,DB232393,EF212289 NP_001095146,NP_997389,EAW91974,BAC04861,AAI21819,AAI24555,Q8N8I0 Hs.359393,Hs.492653,Hs.701196 FLJ39458|MGC148139|MGC148140 protein-coding 1606448 SAMD13 sterile alpha motif domain containing 13 16710414,14702039,12477932 148418 NM_001010971,AL359273,CH471097,AK056937,BC037973,CR615899,CR617905 NP_001010971,CAH73121,CAH73122,CAH73123,EAW73240,EAW73241,EAW73242,EAW73243,Q5VXD3 Hs.591445 RP11-376N17.1 protein-coding 1602057 SAMD14 sterile alpha motif domain containing 14 15489334,14702039,12477932,9373149,9110174,8619474 201191 NM_174920,AC002401,CH471109,AF035306,AK094209,AK095809,AK225767,AK291482,AY148482,BC029872,BC047081,BC141822,BC142728,CR592493 NP_777580,EAW94640,EAW94641,BAF84171,AAN71008,AAH29872,AAH47081,AAI41823,AAI42729,Q86VX6,Q8IZD0 Hs.567769 FLJ36890 protein-coding 1322660 SAMD3 sterile alpha motif domain containing 3 16344560,16189514,14702039,12477932 154075 NM_001017373,NM_152552,AL355581,CH471051,AK091351,AK091882,BC029851,BC119757,BC119758,BC127653,BC127654,CR619249,DA584636,DB509479 NP_001017373,NP_689765,CAI95326,CAI95327,CAI95328,EAW48069,EAW48070,BAC03644,BAC03765,AAH29851,AAI19758,AAI19759,Q4VXD9,Q4VXE0,Q8N6K7,AAI41507 Hs.440508 FLJ34563|MGC35163 protein-coding 1321222 SAMD4A sterile alpha motif domain containing 4A Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM] 1580863 12477932,10470851,15324660,16221671 23034 NM_015589,AL133444,AL138994,AL359792,CH471061,AB028976,AF429970,AK024652,AK025923,AL117523,BC021060,BC021726,BC057838,BC121173,BC121174 NP_056404,EAW80644,EAW80645,EAW80646,BAA83005,AAP97302,CAB55976,AAH21726,AAH57838,AAI21174,AAI21175,Q0VA96,Q6PEW4,Q8WW19,Q9UFP6,Q9UPU9 Hs.98259 DKFZp434H0350|KIAA1053|SAMD4|SMG|SMGA|Smaug|Smaug1 sterile alpha motif domain containing 4 protein-coding 1605980 SAMD4B sterile alpha motif domain containing 4B 17353931,16964243,15489334,15324660,15302935,14702039,12477932 55095 AC005239,AC011445,CH471126,AK001073,AK091041,BC039652,BC054518,BC065211,BC080641,EF601121,NM_018028 NP_060498,EAW56875,EAW56876,EAW56877,EAW56878,EAW56879,BAA91493,AAH39652,AAH54518,AAH65211,AAH80641,ABQ85549,Q5PRF9,Q8IXP7,Q8N2G5,Q9NW90,Q66K25 Hs.612332 FLJ10211|MGC99832|SMGB protein-coding 1353343 SAMD5 sterile alpha motif domain containing 5 12477932 389432 NM_001030060,AL034350,AL354880,BC020896 NP_001025231,CAI23090,CAI18904,Q5TGI4 Hs.567973 dJ875H10.1 protein-coding 1318984 SAMD7 sterile alpha motif domain containing 7 15489334,12477932 344658 NM_182610,AC008040,CH471052,BC117339,BX537903,BX648534,BX648989,BX648991 NP_872416,EAW78534,AAI17340,CAD97889,Q7Z3H4 Hs.439922 DKFZp686E1583 protein-coding 1315069 SAMD8 sterile alpha motif domain containing 8 1580863 14685263,15761153,14702039,12477932 142891 NM_144660,AL392111,CH471083,AK057811,BC080593 NP_653261,CAI40906,CAI40908,CAI40909,EAW54565,EAW54566,EAW54567,EAW54568,BAB71586,AAH80593,Q5JSC5,Q5JSC8,Q5JSC9,Q66K52,Q96LT4,AAI40220,AAI46557 Hs.663616 FLJ25082|SMSr protein-coding 1352885 SAMD9 sterile alpha motif domain containing 9 17507861,17407603,16960814,15489334,14702039,12853948,12690205,12477932,9847074,9373149,8125298 54809 AC000119,CH236949,CH471091,AB095925,AF445355,AF453311,AK000080,AK122951,AK125101,AK125131,AK225201,BC065769,BC132773,BC132775,BC150249,BG615970,BX647072,NM_017654 NP_060124,AAQ96842,EAL24145,EAW76826,BAC23101,AAQ04637,AAQ04689,BAA90932,AAH65769,AAI32774,AAI32776,AAI50250,Q5K651 Hs.65641 C7orf5|FLJ20073|KIAA2004|NFTC|OEF1|OEF2 protein-coding 1353410 SAMD9L sterile alpha motif domain containing 9-like 17407603,14702039,12690205,12477932 219285 NM_152703,AC000119,CH236949,CH471091,AB095926,AF474973,AK026672,AK097204,AL832264,AL834232,AY195582,AY195583,AY195584,AY195585,AY195586,AY195587,AY195588,BC029108,BC038974,BC127117,BC127118,DQ068177,W19045 NP_689916,EAL24144,EAW76824,EAW76825,BAC23102,AAQ05771,BAC04975,CAD38910,AAP57709,AAP57710,AAP57711,AAP57712,AAP57713,AAP57714,AAH29108,AAH38974,AAI27118,AAI27119,AAY98793,Q8IVG5 Hs.489118 GDB:10794636 C7orf6|DRIF2|FLJ39885|KIAA2005|UEF1 chromosome 7 open reading frame 6 protein-coding 1318099 SAMHD1 SAM domain and HD domain 1 1580863 11064105,11256614,17081983,14702039,12477932,12107410,11780052,11230166 25939 NM_015474,AL079335,AL365505,CH471077,AB013847,AB208944,AF228421,AK027811,AL050267,BC036450,CA392465,CR614403 NP_056289,CAI42293,EAW76090,EAW76091,BAB18916,BAD92181,AAF32407,BAB55386,CAB43368,AAH36450,Q59H15,Q8N491,Q9Y3Z3 Hs.580681 GDB:11504431 DCIP|HDDC1|MOP-5|SBBI88 protein-coding 1604035 SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae) SAMM50 is a component of the sorting and assembly machinery (SAM) complex of the outer mitochondrial membrane. The SAM complex has a role in integrating beta-barrel proteins into the outer mitochondrial membrane (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM] 17624330,17510655,16189514,15644312,15489334,15461802,14702039,12477932,10810093,10591208,9373149,8125298 25813 CR593096,CR608779,CR609254,CR611110,CR614301,CR614311,CR617275,CR621217,CR621234,CR624790,CR625665,NM_015380,AL035398,CH471138,AF151809,AK001087,AK091282,AK097015,AK222657,AY189688,BC007830,BC011681,BC015200,CR456483 Q53HC4,Q56VW7,Q9Y512,CAK54464,CAK54763,ABM84050,ABM87400,CAG30369,NP_056195,CAB51401,EAW73326,AAD34046,BAA91498,BAD96377,AAO85221,AAH07830,AAH11681,AAH15200 Hs.505824 CGI-51|OMP85|SAM50|TOB55|TRG-3|YNL026W protein-coding 1348552 SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1 SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM] 1580863 15381729,15489334,12477932,11536050,10830953 64092 NM_022136,AF165138,AL163206,CH471079,AF218085,AF222927,AF519621,AI815031,AK125144,BC029112 NP_071419,CAB90391,EAX10053,EAX10054,AAK07746,AAG23355,AAM75349,AAH29112,Q9NSI8 Hs.473341,Hs.570423 GDB:9992788 HACS1|NASH1|SASH2|SH3D6B protein-coding 1606502 SAP130 Sin3A-associated protein, 130kDa SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM] 12477932,11256614,11230166,11076863,12660246,16189514,16381901,15815621,15489336,15489334,15231748,14702039,12724404 79595 NM_024545,AC012306,AC118060,CH471103,AK022823,AK055979,AK092234,AL136833,AY220791,BC017453,BC117255,CR610925 NP_078821,AAY14878,AAX88975,EAW95350,EAW95351,EAW95352,EAW95353,EAW95354,EAW95355,BAB14261,BAB71063,CAB66767,AAO63591,AAH17453,AAI17256,Q96DP1,Q9H0E3,CAL37428,CAL38106 Hs.32995 FLJ12761 protein-coding 1321265 SAP18 Sin3A-associated protein, 18kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. 1580863 14611647,16189514,11960000,11872158,9150135,17353931,16169070,15635413,15489334,15057823,12477932,10357820 10284 AL158032,CH471075,AF153608,AL360135,AY550970,BC030836,CR457035,CR590892,CR592416,CR608964,CR621103,CR622577,CR623915,CR624098,CR624201,CR625423,U78303,U96915,NM_005870 NP_005861,CAH69949,EAX08291,AAD41090,AAT52216,AAH30836,CAG33316,AAF21220,AAC51322,O00422,ABZ92289 Hs.524899 GDB:9865054 2HOR0202|MGC27131|SAP18p protein-coding 1354225 SAP30 Sin3A-associated protein, 30kDa Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. 1580863 9651585,9874765,12670868,17897615,17672918,17081983,15489334,15451426,15302935,15235594,15005689,12788099,12477932,12124384,11784859,11118440,11102443,11013263,10444591,10441327,9804427,9790534,9702189,9150135,7889570,12724404,11390640,11000236 8819 NM_003864,AC097534,CH471056,AF055993,AW236579,BC016757 NP_003855,EAX04755,EAX04756,AAC33316,AAH16757,O75446,ABM83754 Hs.591715 GDB:9957317 protein-coding 1602722 SAP30BP SAP30 binding protein 9651585,16189514,15496587,15489334,14702039,12477932,10931946 29115 BC007592,BC011724,BC013409,BC030233,BC063793,BX647066,CR611306,CR618344,CR621811,AK095265,AL049465,NM_013260,AC087749,CH471099,AF087869,AF119664,AF450482,AK002202,AK023157,AY082382 AAL92491,AAH07592,AAH13409,AAH30233,AAH63793,Q659G6,Q9UHR5,ABZ92322,BAC04514,CAH56422,NP_037392,EAW89298,EAW89299,EAW89300,EAW89301,EAW89302,EAW89303,EAW89304,AAM10497,AAF17221,AAL47177 Hs.655088 DKFZp586L2022|HCNGP|HTRG|HTRP protein-coding 1606218 SAP30L SAP30-like 18070604,16484223,15302935,14702039,14680513,12477932 79685 NM_024632,AC008625,CH471062,AK021588,AY341060,AY846876,BC009829 NP_078908,EAW61637,BAB13848,AAQ16562,AAX54477,AAH09829,Q9HAJ7 Hs.483906 FLJ11526|NS4ATP2 protein-coding 1322857 SAPS1 SAPS domain family, member 1 Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM] 16769727,16716191,15489334,14743216,12477932,10470851 22870 NM_014931,AC010327,AC116342,CH471135,AB029038,AK126810,AL544921,BC002799,BC007629,BC068014,BC094753,BC111980,BC113443,BG772019,BX362839 NP_055746,EAW72352,EAW72353,EAW72354,BAA83067,BAC86703,AAH02799,AAH07629,AAH68014,AAH94753,AAI11981,AAI13444,Q6ZT91,Q96ID3,Q9UPN7 Hs.515610 GDB:9957228 KIAA1115|MGC138185|MGC142003|PP6R1|SAP190 protein-coding 1347490 SAPS2 SAPS domain family, member 2 Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM] 1580863 16769727,16713569,14743216,14702039,12477932,10591208,9734811 9701 NM_014678,AL096767,AK002063,AK022669,AK024148,AK097210,BC000976,BC006568,BC022346,BC032664,BC041698,BC052995,AL671545,AL954743,BX545851,CH471138,AA743798,AB014585 NP_055493,CAO03456,CAO03457,BAA31660,AAH00976,AAH06568,AAH32664,AAH41698,AAH52995,O75170,Q5U5P3,Q7Z2L2,Q7Z731,EAW73532,CAO03458,CAO03459,CAO03642,CAO03643,CAO03644,CAO03645,CAO03561,CAO03562,CAO03563,CAO03564,EAW73530,EAW73531,EAW73533,EAW73534 Hs.449098 GDB:9958165 KIAA0685|PP6R2|SAP190|dJ579N16.1 protein-coding 1316164 SAPS3 SAPS domain family, member 3 Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 300141) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM] 16716191,17081983,16964243,16769727,15489334,15345747,15324660,15302935,14702039,12477932,11401438,10997877,14743216 55291 NM_018312,AP000807,AP001788,AP003096,CH471076,AB046778,AF264779,AF264780,AK001920,AK023950,AK057250,AK125055,AL389982,AL834471,BC007738,BC020953,BC070121,BC105933,BC105934,BC107599,CN351527,CR593310,CR604147,CR749815,CR933658,CR936718,DQ111954 NP_060782,EAW74707,EAW74708,EAW74709,EAW74710,EAW74711,EAW74712,BAB13384,AAG36934,AAG36935,BAA91978,BAB14737,BAB71396,CAB97537,CAD39130,AAH07738,AAH20953,AAI05934,AAI05935,AAI07600,CAH18675,CAI45957,AAZ99639,Q5H9R7,Q9H880,Q9NPQ7 Hs.503022 GDB:11500445 C11orf23|DKFZp781E17107|DKFZp781E2374|DKFZp781O2362|FLJ11058|FLJ43065|KIAA1558|MGC125711|MGC125712|PP6R3|SAP190|SAPL|SAPLa chromosome 11 open reading frame 23 protein-coding 1350460 SAR1A SAR1 gene homolog A (S. cerevisiae) 1580863 18318767,17981133,17373700,16713569,15489334,12692552,12477932,11230166,10871277,15580264 56681 NM_020150,AL731540,CH471083,CQ859742,AF086166,AF087897,AF217959,AF261717,AF274026,AF318066,AL136724,AY008268,BC003658,CR533492,CR600689 NP_064535,CAI13687,CAI13688,CAI13689,EAW54378,EAW54379,EAW54380,EAW54381,CAH25921,AAP97196,AAQ13891,AAF81741,AAM69363,AAL27183,CAB66658,AAG16638,AAH03658,CAG38523,Q5SQT8,Q5SQT9,Q6FID4,Q8NG23,Q9NR31 Hs.499960,Hs.594910 GDB:10796625 SAR1|SARA1|Sara|masra2 sar1a gene homolog 1 (s. cerevisiae) protein-coding 1313710 SAR1B SAR1 gene homolog B (S. cerevisiae) 1580863 11252894,11031247,17945526,15943909,15489334,14702039,12692552,12477932,10665502,9373149,8125298 51128 NM_016103,NM_001033503,AC106763,CH471062,CQ816569,AF087850,AF092130,AK056821,AK223452,AL512710,AL710660,BC002847,BC093034,BM765118,CR601141,CR618571,CR618910 NP_057187,NP_001028675,EAW62249,EAW62250,CAG32967,AAP97161,AAD40372,BAD97172,CAC21652,AAH02847,AAH93034,Q53F37,Q9H029,Q9Y6B6 Hs.432984 GDB:10796626 CMRD|GTBPB|SARA2 sar1a gene homolog 2 (s. cerevisiae) protein-coding 1602814 SAR1P3 SAR1 gene homolog (S. cerevisiae) pseudogene 3 344988 XM_293671,XM_936431,XM_001714154 XP_293671,XP_941524,XP_001714206 protein-coding 1352062 SARAP SAR1a gene homolog (S. cerevisiae) pseudogene 387048 735740 SARDH sarcosine dehydrogenase 1580863,634034 10444331,14702039,12477932,10686491,9839943,9373149,8125298,2447942,2417560 634034 1757 NM_007101,AF140745,AL365494,AL590710,CH471090,AF047004,AF047190,AF095735,AF095736,AF129265,AF162428,AJ223317,AK093794,AK223402,AK291211,BC033217,BC041574,BC136363,BC136364,CR593278,CR597974,CR602119,AF095737 NP_009032,AAD32214,CAI13356,CAI12275,CAI12276,CAI12277,EAW88101,EAW88102,EAW88103,EAW88104,AAD13136,AAD13137,AAD53398,AAD53399,AAD53400,AAD33412,AAD43585,CAA11257,BAD97122,BAF83900,AAH33217,AAI36364,AAI36365,O95173,O96023,Q05BT1,Q53F87,Q5SYU9,Q5SYV1,Q9UL10,Q9UL11,Q9UL12 Hs.198003 GDB:9835149 DMGDHL1|FLJ36475|SAR|SARD|SDH protein-coding 1320776 SARM1 sterile alpha and TIR motif containing 1 18089857,17804407,16964262,15893701,15123841,14702039,12477932,11386760,9628581 23098 NM_015077,AC002094,CH471159,CQ859792,AB011096,AJ290445,AK093615,AY444166,BC040429,BC122860,CR623769,CR626592 NP_055892,EAW51083,EAW51084,CAH25946,BAA25450,CAB90355,AAR17520,AAH40429,AAI22861,Q05B42,Q0D2N8,Q6SZW1 Hs.446689,Hs.532781 FLJ36296|KIAA0524|SAMD2|SARM protein-coding 1348583 SARS seryl-tRNA synthetase This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. 1580863 9431993,17353931,15489334,14702039,12477932,11945516,11577083,11317363,9637248,9373149,8125298,7540217 6301 NM_006513,AL356389,CH471122,AK093718,AK222677,BC000716,BC009390,BC111398,CR591384,CR591587,CR593255,CR594119,CR598107,CR598649,CR598859,CR600592,CR600786,CR602844,CR606223,CR614273,CR615635,CR616169,CR620540,CR622656,CR623378,CR625256,CR625421,CR626109,D49914,X91257 NP_006504,CAI13599,CAI13600,EAW56365,EAW56366,EAW56367,EAW56368,EAW56369,EAW56370,EAW56371,BAC04219,BAD96397,AAH00716,AAH09390,AAI11399,BAA95602,CAA62635,P49591,Q0VGA5,Q53HA4,Q8N208,ABM83070,ABM86265 Hs.531176 GDB:581847 FLJ36399|SERRS|SERS protein-coding 1319808 SARS2 seryl-tRNA synthetase 2, mitochondrial 1580863 10764807,17353931,16133542,15489334,15109557,15081407,14702039,12477932,11331419 54938 NM_017827,AC011455,CH471126,AB029948,AK000457,AK098522,BC001020,BC042912,CR599609,CR611000,CR618695 NP_060297,EAW56844,EAW56845,EAW56846,EAW56847,EAW56848,BAA99557,BAA91176,AAH01020,AAH42912,Q9NP81 Hs.705462 GDB:11510790 FLJ20450|SARS|SARSM|SERS|SYS|SerRSmt|mtSerRS seryl-trna synthetase 2 protein-coding 736742 SART1 squamous cell carcinoma antigen recognized by T cells This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. 1580863 9373149,8889548,8125298,10209962,9856836,10929426,18374504,17081983,16344560,15620657,15489334,15302935,15175327,14702039,12477932,12189166,12032085,11991638,11410364,11350945,11156463,11092984,10853014,10551332,9449708,16158934 9092 NM_005146,AF109680,AP006287,CH471076,AB006198,AF353625,AK223016,AU136920,AW082868,BC001058,BC018607,BM668558,BM693243,BT006637,BX648500,CR611735,CR626621,Y14314 NP_005137,AAD20223,EAW74474,EAW74475,BAA24056,AAK49523,BAD96736,AAH01058,AAP35283,CAA74694,O43290,ABM82620,ABW03446 Hs.502883 GDB:9954856 Ara1|HOMS1|MGC2038|SART1259|Snu66 protein-coding 1323212 SART3 squamous cell carcinoma antigen recognized by T cells 3 The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. 1580863 11477570,17353931,17081983,16713569,16344560,15489334,15452143,15314151,15146197,15031286,14749385,12578909,12477932,12421765,12374753,12032085,11959860,11920522,11092984,10761712,10463607,9373149,8590280,8125298 9733 AB073647,AF387506,AI656011,AK225174,AK290209,BC004547,BC015627,BC024279,BC032601,BC041638,BC093784,BC103706,BC111983,BQ231651,CN349201,D63879,DA391623,NM_014706,AC008119,AC010206,CH471054,AB020880 BAA78384,AAK69347,BAF82898,AAH32601,AAH41638,AAH93784,AAI03707,AAI11984,BAA09929,Q15020,NP_055521,EAW97816,EAW97817 Hs.584842 GDB:9784949 DSAP1|KIAA0156|MGC138188|P100|RP11-13G14|TIP110|p110|p110(nrb) squamous cell carcinoma antigen recognised by t cells 3 protein-coding 1350407 SASH1 SAM and SH3 domain containing 1 1580863 17088907,17081983,15790807,15489334,14702039,12771949,12477932,9872452,15778465 23328 NM_015278,AL033378,AL357567,AL513164,AL589940,AY351979,CH471051,AB018333,AJ420508,AJ507735,AK023607,AK024403,AK025495,AK074249,AY927559,BC028303,BC063279,BN000088,BX537611 NP_056093,CAI20166,CAH73449,AAQ55463,EAW47815,EAW47816,BAA34510,CAD47811,BAB14909,AAH28303,AAH63279,CAD92036,CAD97798,O94885,Q5VUX1,Q6P4R9,Q7Z3N8 Hs.193133 KIAA0790|RP3-323M4.1|SH3D6A|dJ323M4|dJ323M4.1 protein-coding 1353862 SASH3 SAM and SH3 domain containing 3 SLY contains an Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling (Beer et al., 2001 [PubMed 11470164]).[supplied by OMIM] 15761153,15489334,12515807,12477932,11470164,9094723 54440 NM_018990,AL023653,CH471107,AK292023,AL049683,BC051881 NP_061863,CAA19221,EAX11826,BAF84712,CAB41255,AAH51881,O75995 Hs.61469 753P9|CXorf9|HACS2|SH3D6C|SLY protein-coding 1603551 SASS6 spindle assembly 6 homolog (C. elegans) SAS6 is necessary for centrosome duplication and functions during procentriole formation; SAS6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle Strnad et al., (2007) [PubMed 17681132].[supplied by OMIM] 15665853,14654843,17681132,16710414,15572125,12477932 163786 NM_194292,AC093019,AL445928,CH471097,AK025750,AL834265,AY359522,BC054889,BC101026,BX641109,BX648406 NP_919268,CAH72248,EAW72974,EAW72975,CAD38940,AAQ57128,AAI01027,Q495U0,Q6UVJ0 Hs.591447 FLJ22097|MGC119440|SAS-6|SAS6 protein-coding 1346323 SAT1 spermidine/spermine N1-acetyltransferase 1 Spermidine/spermine N(1)-acetyltransferase (SSAT; EC 2.3.1.57) is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the N(1)-acetylation of spermidine and spermine and, by the successive activity of polyamine oxidase, spermine can be converted to spermidine and spermidine to putrescine (Casero et al., 1991 [PubMed 1985966]).[supplied by OMIM] 1580863 1985966,11256614,17875644,17516632,17065202,16854216,16769699,16757480,16637064,16544326,16389195,16262603,16207710,16189514,16169070,15905201,15489334,15479742,15213272,15159132,14506281,12803540,12600646,12539042,12477932,12427553,12215835,12083816,11779193,11485561,10646846,8954982,8670140,8573111,8033120,2241897,1989509,1652956,1417826 6303 NM_002970,AC131011,CH471074,U40369,Z14136,AF251292,AL050290,AY841998,BC002503,BC008424,BR000410,BT006825,CR450294,CR590358,CR594832,CR597630,CR601221,CR610144,CR624470,M55580,M77693 NP_002961,EAW98999,EAW99000,AAA98854,CAA78509,AAG44592,AAW03315,AAH02503,AAH08424,FAA00324,AAP35471,CAG29290,AAA63260,AAA60573,P21673,Q0WXH0,Q2TM25,Q6ICU9,Q9H2N9 Hs.28491 GDB:127512,GDB:128174 DC21|KFSD|SAT|SSAT|SSAT-1 protein-coding 1317312 SAT2 spermidine/spermine N1-acetyltransferase family member 2 737633,1580863 17875644,17558023,17119850,16596569,16189514,15761153,15489334,15283699,12803540,12477932 737633 112483 NM_133491,AC007421,CH471108,AF348524,BC011751,BC095466,CR604966,CR610611 NP_597998,EAW90151,EAW90152,EAW90153,AAL83905,AAH11751,AAH95466,Q502X4,Q96F10 Hs.10846 SSAT2 protein-coding 1313660 SATB1 SATB homeobox 1 1580863 1505028,15851481,17652321,17376900,17343824,17173041,16630892,16377216,16371359,16344560,16189514,15970696,15618465,15561718,15489334,14605447,12692553,12477932,12374985,12036295,11937547,11463840,10373541,9886398,9417904,9284917,8114718,7829101 6304 NM_002971,AC139618,AC144521,CH471055,AB209761,AK127242,AU127749,BC001744,BE218845,BI494258,M97287,U92993 NP_002962,EAW64291,EAW64292,EAW64293,BAD92998,AAH01744,AAA60304,Q01826,Q59EQ0,ABM82796,ABM85984 Hs.517717 GDB:335290 protein-coding 1343440 SATB2 SATB homeobox 2 1580863 16953426,16327884,15489334,14702039,14701874,12915443,12477932,10964520,10470851 23314 NM_015265,AC016746,AC017096,CH471063,AB028957,AB209376,AJ438951,AK025127,AK056638,AK291463,BC098136,BC099723,BC103492,BC103500 NP_056080,EAW70180,EAW70181,BAA82986,BAD92613,BAB15073,BAF84152,AAH98136,AAH99723,AAI03493,AAI03501,Q3ZB87,Q59FT3,Q9H726,Q9UPW6,ABZ92224 Hs.516617 FLJ21474|FLJ32076|KIAA1034|MGC119474|MGC119477 protein-coding 1343887 SATL1 spermidine/spermine N1-acetyl transferase-like 1 737633,1580863 15772651,15489334,12477932 737633 340562 NM_001012980,CH471104,Z99571,BC043215,BC126401 NP_001012998,EAW98567,CAI42723,AAH43215,AAI26402,Q86VE3 Hs.696429 protein-coding 1316338 SAV1 salvador homolog 1 (Drosophila) WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a coiled-coil region. It is ubiquitously expressed in adult tissues. The encoded protein is 94% identical to the mouse protein at the amino acid level. 1580863 16930133,15688006,15489334,14702039,12969014,12477932,12202036,11027580,9373149,8125298,15778465 60485 NM_021818,AL606834,CH471078,AF088000,AJ292969,AK021500,AK023071,AK095903,AK225896,AK290883,AL833378,BC006385,BC020537,CR457297 NP_068590,EAW65702,EAW65703,EAW65704,CAC13972,BAB13835,BAB14390,BAF83572,AAH20537,CAG33578,Q9H4B6 Hs.642842 SAV|WW45|WWP4 protein-coding 1351939 SAX1 spastic ataxia 1 (dominant) 114610 GDB:11507787 1322290 SBDS Shwachman-Bodian-Diamond syndrome This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. 1599541 18280855,18190602,18024409,17916435,17643419,17478638,17400792,17046571,16529906,15942154,15860664,15769891,15635413,15489334,15284109,14749921,14702039,12496757,12477932,12032733,10810093 1599541 51119 NM_016038,NG_007277,AC079920,CH471140,CQ787569,AF151855,AK001779,AK289609,AY169963,BC065700,CR591576,CR593490,CR596032,CR597378,CR599805,CR601234,CR601377,CR604577,CR606525,CR606624,CR610261,CR612387,CR613195,CR613995,CR622210,CR622442,CR626007 NP_057122,EAX07906,CAG17753,AAD34092,BAA91905,BAF82298,AAN77490,AAH65700,Q9Y3A5 Hs.110445 CGI-97|FLJ10917|SDS|SWDS protein-coding 1348153 SBDSP Shwachman-Bodian-Diamond syndrome pseudogene 12496757,12477932 155370 NR_001588,AC005236,BC010183,CR599716,CR607512,CR607679,CR610804 Hs.585053 pseudo 1316075 SBF1 SET binding factor 1 1580863 9736772,15489334,14702039,12668758,12477932,11994405,11686296,10848615,10591208,9537414 6305 NM_002972,AL096767,CH471138,AB209682,AF072929,AK057985,BC009268,BC024101,BC040031,BC046169,BC056915,BC087612,BG766677,BI821356,BU931657,CA868136,CR610158,CR749672,U93181 NP_002963,CAO03460,CAO03461,CAO03462,CAO03463,EAW73536,EAW73537,EAW73538,EAW73539,EAW73540,BAD92919,AAC78842,AAH09268,AAH46169,AAH56915,AAH87612,CAH18463,AAC39675,O95248,Q59EX9,Q68CX1,Q6PGN5,Q86TK5 Hs.589924 GDB:9863255 DKFZp761D0422|MGC99700|MTMR5 protein-coding 1354184 SBF2 SET binding factor 2 The family of myotubularin-related proteins includes lipid phosphatases, such as MTM1 (MIM 600415), and pseudophosphatases, such as SBF1 (MIM 603560) and SBF2. Pseudophosphatases contain inactivating substitutions at the catalytic cysteine.[supplied by OMIM] 15998640,16344560,15489334,15477569,15304601,14702039,12687498,12554688,12477932,11214970,10644431,9521281 81846 NM_030962,AC011092,AC015700,AC026250,AC080023,AC100763,AB051553,AF085830,AK022478,AK026571,AK091362,AK123621,AL512756,AL832942,AY234241,BC011143,BC027492,BC043389,BC053867,BC063656,BC101466,BX538184,BX647533,CR603765,CR611690,CR749312,CT000365,DA862574 NP_112224,BAB21857,CAC21675,CAH56315,AAO62733,AAH11143,AAH43389,AAH53867,AAH63656,AAI01467,CAD98056,CAH18167,Q658X1,Q86WG5,Q9H032 Hs.577252 CMT4B2|DKFZp779B2327|FLJ22918|FLJ41627|KIAA1766|MTMR13 protein-coding 1344532 SBK1 SH3-binding domain kinase 1 17081983,11322885 388228 NM_001024401,AC138904,CH471145,AL390134,AY874862,CR603791 NP_001019572,EAW55733,AAX59898,Q52WX2 Hs.97837 Sbk protein-coding 1320657 SBNO1 strawberry notch homolog 1 (Drosophila) 14702039,12477932 55206 NM_018183,AC068768,AC137767,CH471054,AB014772,AK001563,AK074256,AK096864,AK122703,AY364255,BC030544,BC041141,BC129949,BC133704,AK001695 BAA91758,NP_060653,EAW98402,EAW98403,EAW98404,EAW98405,BAB19784,BAA91842,AAQ76814,AAH30544,AAI33705,A3KN83,Q9NVJ3 Hs.577403 FLJ10701|FLJ10833|FLJ16176|MOP3|Sno sno, strawberry notch homolog 1 (drosophila) protein-coding 1316240 SBNO2 strawberry notch homolog 2 (Drosophila) 18025162,15342556,12477932,10231032 22904 NM_014963,NM_001100122,AC005390,AC093067,AC120982,CH471139,AB023180,AI433817,AK074102,AK125139,AK292407,BC106021,BC127011,BG332816,BP315965,BQ950129,CR600068,CR614406,DC400108 NP_055778,NP_001093592,AAC28919,EAW69541,EAW69542,BAA76807,BAB84928,BAF85096,AAI06022,AAI27012,Q9Y2G9 Hs.408708 GDB:9957712 FLJ00173|KIAA0963|SNO|STNO protein-coding 1602809 SBSN suprabasin 15256262,15234001,12975309,12477932,12228223 374897 NM_198538,AC002389,AK291305,AY358701,BC063640,BX648076 NP_940940,BAF83994,AAQ89064,AAH63640,Q6UWP8 Hs.433484 MGC75533|UNQ698 protein-coding 1342540 SC Scianna blood group 6306 GDB:119587 737148 SC4MOL sterol-C4-methyl oxidase-like Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 8663358,16713569,15489334,12477932 6307 NM_006745,NM_001017369,AC012504,CH471056,AK292418,AV704962,BC010653,BC107879,BU940384,BX441001,CR605188,CR617900,CR618021,CR623263,CR623543,U60205,U93162 NP_006736,NP_001017369,EAX04820,EAX04821,BAF85107,AAH10653,AAI07880,AAC50587,AAB81566,Q15800,ABM81986,ABM85163 Hs.105269,Hs.593050 GDB:5563554 DESP4|ERG25|MGC104344 protein-coding 1346823 SC4MOP sterol-C4-methyl oxidase pseudogene 6308 NG_001194,AL121578,U93261 GDB:6044888 DESP4P1 pseudo 1351356 SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. 1580863,1599537 8976377,15489334,14702039,12812989,12477932,12189593,11731337,10786622,10769175,10601301,10344195,9373149,8466936,8125298,7961720,7770068,7560069 1599537 6309 NM_006918,NM_001024956,AB057650,AP002959,CH471065,AF187981,AK027246,AK096847,AK222686,AK223141,BC012333,BC050427,BI559520,R60770,AF069469 NP_008849,NP_001020127,BAB68218,EAW67519,EAW67520,EAW67521,EAW67522,AAF00544,BAD96406,BAD96861,AAH12333,AAH50427,O75845,Q6GTM5 Hs.287749 GDB:3789394 ERG3|S5DES|SC5D protein-coding 732924 SC65 synaptonemal complex protein SC65 This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. 8862517,16396496,15489334,14702039,12477932,10952778,9373149,8125298 10609 NM_006455,AC091172,AC109319,CH471152,AJ250583,AK056016,AK056085,AK222945,BC001047,BC007942,BC011701,BM834302,U47621 NP_006446,EAW60766,CAC16786,BAD96665,AAH01047,AAH07942,AAH11701,AAC51792,Q92791,ABM84524 Hs.446459 GDB:9958008 NOL55 protein-coding 1352262 SCA11 spinocerebellar ataxia 11 10417284 10977 GDB:9958673 1345814 SCA13 spinocerebellar ataxia 13 10820125 57363 GDB:9993161 1351203 SCA15 spinocerebellar ataxia 15 11723290 140449 GDB:11508624 1353892 SCA16 spinocerebellar ataxia 16 57043 GDB:10796882 1347005 SCA18 spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy) 11992570 94008 GDB:11507789 1349872 SCA19 spinocerebellar ataxia 19 12384780 140452 GDB:11508894 1354041 SCA20 spinocerebellar ataxia 20 14998916 407973 1352970 SCA21 spinocerebellar ataxia 21 11160961 170545 GDB:11507791 1342705 SCA22 spinocerebellar ataxia 22 12764052 140575 GDB:11508908 1347379 SCA23 spinocerebellar ataxia 23 259268 GDB:11510207 1354115 SCA25 spinocerebellar ataxia 25 14705117 338435 1344127 SCA26 spinocerebellar ataxia 26 408221 1349236 SCA4 spinocerebellar ataxia 4 6312 GDB:250364 1343643 SCA5 spinocerebellar ataxia 5 7874171 6313 GDB:378219 1342581 SCA9 spinocerebellar ataxia 9 9159738 140451 GDB:11508625 733391 SCAF1 SR-related CTD-associated factor 1 16713569,16631123,15302935,14702039,12477932,11461075 58506 AC011495,AF254411,CH471177,NM_021228,AK024444,BC011662,BC018398,BC023628,BC053992,CR604142 NP_067051,AAF87552,EAW52508,EAW52509,BAB15734,AAH11662,AAH18398,AAH53992,Q7Z6I4,Q9H7N4 Hs.103521 FLJ00034|SR-A1|SRA1 ctd-binding sr-like ra1 protein-coding 731550 SCAMP1 secretory carrier membrane protein 1 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. 1580863 9378760,16713569,16344560,15840657,15489334,14759258,14702039,12477932,12475951,12124380,11050114,11042173,11042152,10777571,9658162,9653160,9373149,9224770,9110174,8619474,8404846,8125298,16189514 9522 NM_004866,AC010585,AC104108,CH471084,AF005037,AF038966,AF131858,AK001417,AK001541,AK225172,AK290225,AL049223,BC009787,BC015065,BC016355,BC034048,CB960371,CR542286,CR624486,DB213762 NP_004857,EAW95814,EAW95815,EAW95816,EAW95817,AAB62722,AAC39864,BAF82914,AAH09787,AAH15065,AAH16355,AAH34048,CAG47081,O15126,Q6FG23,Q96AZ4 Hs.482587 GDB:9957239 SCAMP|SCAMP37 protein-coding 68490 SCAMP2 secretory carrier membrane protein 2 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. 1580863 9378760,16870614,16169070,15840657,15489334,14702039,12477932,12475951,12124380,9224770,16189514 10066 NM_005697,AC091230,CH471136,AF005038,AK096376,AK096794,BC001376,BC004385,CR456800,CR600693,CR602292 NP_005688,EAW99299,EAW99300,AAB62723,AAH01376,AAH04385,CAG33081,O15127,Q6IBK3 Hs.458917 GDB:9954957 protein-coding 68495 SCAMP3 secretory carrier membrane protein 3 This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Two transcript variants encoding different isoforms have been found for this gene. 1580863 9378760,17081983,15592455,15489334,15144186,12477932,10777571,9658162,9331372,9224770 10067 NM_005698,NM_052837,NM_000157,NM_001005741,NM_001005742,NM_001005749,NM_001005750,AF023268,AL713999,CH471121,AF005039,BC000161,BC005135,BC010505,CR541757,CR591169,CR594552,CR595229,CR595790,CR595973,CR597366,CR597858,CR603538,CR605236,CR608453,CR610056,CR612186,CR612262,CR613841,CR614292,CR615351,CR616361,CR617930,CR620488,CR620807,CR623315,CR624929,CR625336 NP_005689,NP_443069,AAC51821,CAI95095,CAI95096,EAW53090,EAW53091,EAW53092,EAW53093,AAB62724,AAH00161,AAH05135,AAH10505,CAG46557,O14828,Q4VX16,Q4VX17,Q6FHJ5 Hs.200600,Hs.282997 GDB:9865634 C1orf3 protein-coding 1345872 SCAMP4 secretory carrier membrane protein 4 737633,1580863 16303743,15489334,14702039,12477932,11295240,11050114 737633 113178 NM_079834,AC012615,CH471139,CQ782937,AF109187,AF173896,AK074586,AK074967,AK091166,AK092056,AL832731,BC007958,BC011747,BC016509,BC016685,BC062598,BX647235,CR607576 NP_524558,EAW69435,CAF86165,ABM86184,AAQ13496,AAQ13643,BAC11075,BAC11322,BAC03797,AAH11747,AAH16509,AAH62598,Q969E2,ABM82989,ABM82990,ABM82992 Hs.144980 FLJ33847|FLJ90105|SCAMP-4 protein-coding 1343509 SCAMP5 secretory carrier membrane protein 5 737633 16381901,15840657,15489336,15489334,14702039,12477932,11230166,11076863,11050114 737633 192683 NM_138967,AC015720,CH471136,AL834226,BC024700,CR605604,CR936761,CS320139,AF495715,AK025678,AK056438,AK126940,AK127480,AL360203,AL833230 NP_620417,EAW99277,CAH10607,CAD38904,AAH24700,Q0JT69,Q69YJ5,Q8TAC9,CAL38295,EAW99278,EAW99279,EAW99280,EAW99281,EAW99282,EAW99283,EAW99284,CAK96044,AAM18052 Hs.374180 DKFZp686L1799|MGC24969 protein-coding 1318355 SCAND1 SCAN domain containing 1 The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. Functional studies have established that the SCAN box is a protein interaction domain that mediates both hetero- and homoprotein associations, and maybe involved in regulation of transcriptional activity. Two transcript variants with different 5' UTRs, but encoding the same protein, have been described for this gene. 1580863 16540086,16381901,16189514,15489336,15489334,12477932,12444922,12383503,11780052,11076863,10777584,10747874,10567577 51282 BC000785,BC036709,BC041022,CR457188,NM_016558,NM_033630,AL109965,CH471077,AF204271,AF207829 AAH00785,AAH36709,AAH41022,CAG33469,P57086,Q0JUQ0,Q6IAG7,Q9NZG6,CAL37761,CAL38007,ABZ92024,NP_057642,NP_361012,CAC09390,EAW76150,EAW76151,EAW76152,AAF59839,AAF66832 Hs.584909 GDB:10796627 RAZ1|SDP1 protein-coding 1350423 SCAND2 SCAN domain containing 2 1580863 17081983,15489334,14702039,12477932,12036577,11056053,10567577 54581 NM_033634,NM_033636,NM_033635,NM_022050,NM_033640,NM_033633,NR_003654,NR_004859,AC048382,AF244812,CH471101,AA280726,AF229246,AI218957,AK022844,AL109690,AW341587,BC011547,BC012929,BC063836,BC093922,BC093924,BF115195,CR594703 NP_378660,NP_378662,NP_378661,NP_071333,NP_378666,NP_378659,AAG34567,EAX01938,EAX01939,EAX01940,EAX01941,EAX01942,EAX01943,AAG33966,BAB14268,AAH11547,AAH12929,AAH63836,AAH93922,AAH93924,Q52LH3,Q9GZW5 Hs.658114 GDB:10796629 pseudo 1351610 SCAND3 SCAN domain containing 3 16381901,15489336,14702039,14574404,12477932,11572484,11230166,11076863,15489334 114821 NM_052923,AL049543,AL671879,CH471081,AB067512,AK056369,AL713690,AL832486,AY517631,BC110834,BC111741,BC111742,BX647791 NP_443155,CAB71122,CAI17641,EAX03170,BAB67818,BAB71166,CAD28490,AAS01734,AAI10835,AAI11742,AAI11743,Q0JRX5,Q0JUQ4,Q6R2W3,Q9HCY4,CAL37757,CAL38739 Hs.176980 DKFZp434N092|FLJ31087|KIAA1925|MGC131782|MGC133310|MGC133311|ZFP38-L|ZNF305P2|ZNF452|dJ1186N24.3 protein-coding 1604827 SCAP SREBF chaperone This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. 11726962,11969205,11726974,17570245,17383658,16466730,16344560,16303743,15489334,14702039,12842885,12482938,12477932,12242332,12202038,12168954,10896675,10570919,10570913,9642295,9242699,8898195,8724849,16189514,15782218,18195716 22937 NM_012235,AC099778,CH471055,AK027402,AK074312,AK075528,AK091005,AK291484,AU152077,BC020987,BC027207,BI160250,CR623836,CR625407,D83782 NP_036367,EAW64825,EAW64826,BAB55088,BAC11673,BAF84173,AAH20987,AAH27207,BAA12111,Q12770,Q6PIX8 Hs.531789 KIAA0199 protein-coding 1345518 SCAPER S phase cyclin A-associated protein in the ER 1580863 17698606,17553665,14702039,12477932,12421765,10819331 49855 NM_020843,AC015798,AC016343,AC027243,AC051643,AC090179,AC090751,CH471136,AB040887,AF119814,AF242528,AK025663,AK056095,AK056515,AK125919,AL137612,BC015212,BC070197,BC107415,BT006762,BX647285,CR590728,CR625323 NP_065894,EAW99217,EAW99218,EAW99219,BAA95978,AAG47945,AAK29205,CAB70841,AAH15212,AAH70197,AAI07416,AAP35408,Q6NSF1,Q9BY12,AAI56878 Hs.458986 GDB:10796232 FLJ31533|FLJ31953|KIAA1454|MSTP063|ZNF291|Zfp291 protein-coding 1350296 SCAR1 spinocerebellar ataxia, recessive, non-Friedreich type 1 11022012 85506 1319520 SCARA3 scavenger receptor class A, member 3 This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. 9580669,16436673,15489334,12477932,9747040 51435 NM_182826,NM_016240,AC013643,CH471080,DQ205185,AB007829,AB007830,BC060811,BC075067,BC075068 NP_878185,NP_057324,EAW63544,EAW63545,ABA27098,BAA86201,BAA86202,AAH60811,AAH75067,AAH75068,Q6AZY7 Hs.128856 GDB:9956433 APC7|CSR|CSR1|MSLR1|MSRL1 protein-coding 1606661 SCARA5 scavenger receptor class A, member 5 (putative) 16407294,16245330,15489334,14702039,12975309,12477932 286133 NM_173833,AC069113,AC104997,CH471080,AK172746,AY337579,AY358150,BC033153 NP_776194,EAW63532,EAW63533,EAW63534,BAD18733,AAQ17470,AAQ88517,AAH33153,Q6ZMJ2 Hs.591833 FLJ23907|MGC45780|Tesr protein-coding 735633 SCARB1 scavenger receptor class B, member 1 1580028,1580003,1600654,1580004 12039952,9211901,7689561,18216094,18057374,18053692,18007013,17957039,17905649,17700364,17673517,17618962,17531953,17507483,17476110,17404186,17311943,17259591,17241464,17240192,17215280,17110915,17105723,16926440,16870193,16816107,16794223,16777453,15226391,15186961,15166784,15102890,15072554,14967816,14726519,14718538,14701812,14676281,14652019,14566094,14551195,12968020,12966036,12913001,12807968,12788901,12763030,12663276,12651854,12568179,12562842,12555245,12519372,12477932,12417285,12356718,12227853,12207878,12164779,12138091,12119305,12100619,12016218,11952809,11944916,11792700,11575708,11238031,11196441,10829064,7539776,4838888,1076467,16189514,16675450,16600224,16574909,16542392,16488891,16476701,16410457,16380385,16185081,16168958,16120612,15979078,15970294,15910850,15749707,15681296,15632171,15576377,15561721,15492319,15489334,15345670,15342124,16770077 1580028,1580003,1600654,1580004 949 BC093732,BC112037,BG770204,CA428516,CR591077,CR596041,CR598256,CR599999,CR600982,CR603816,CR607701,CR616190,CR624045,Z22555,NM_005505,AC073593,AC126309,CH471054,AB209436,AF254409,AF515445,AK124112,BC022087,BC034322,BC080647,NM_001082959 AAH93732,AAI12038,CAA80277,Q52LZ5,Q59FM4,Q8WTV0,Q9NR60,ABM83763,ABM87082,NP_001076428,NP_005496,EAW98458,EAW98459,EAW98460,EAW98461,EAW98462,BAD92673,AAF91347,AAQ08185,AAH80647 Hs.709216 GDB:228074 CD36L1|CLA-1|CLA1|MGC138242|SR-BI|SRB1 2289510,2289628,2289630,2289632 BW451_H,BW500_H,BW501_H,BW502_H protein-coding 732465 SCARB2 scavenger receptor class B, member 2 The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Studies of the similar protein in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. Deficiency of the similar protein in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. 1580863 18022370,1374238,18308289,17673517,17215280,17110915,16542748,16368683,15489334,14702039,14570588,12754519,12628346,12620969,12477932,12370188,12356916,12107410,11840567,9478926,7539776,7509809 950 AC034139,AC110795,BX538257,CH471057,AK022432,AK056001,BC021892,BC035111,BQ924546,BT006939,NM_005506,CA395147,CR593966,CR610223,CR610560,CR615681,CR621934,CR626028,D12676 NP_005497,EAX05779,EAX05780,EAX05781,AAH21892,AAP35585,BAA02177,Q14108,AAP36329,ABM84461,ABM84683,Q53Y63 Hs.349656,Hs.701734 GDB:383649 CD36L2|HLGP85|LIMPII|SR-BII cd36 antigen (collagen type i receptor, thrombospondin receptor)-like 2 protein-coding 1319619 SCARF1 scavenger receptor class F, member 1 The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells and mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Transcription factors ZNF444/EZF-2 and SP1 are found to be responsible for the regulation of this gene. Five alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 9395444,15489334,12477932,12154095,11978792,8590280 8578 NM_003693,NM_145350,NM_145349,NM_145352,AB052946,AC130343,CH471108,AB052947,AB052948,AB052949,AB052950,AK291810,NM_145351,AW263037,BC039735,D63483,D86864 NP_663326,NP_003684,NP_663325,NP_663324,NP_663327,BAC02692,EAW90596,EAW90597,EAW90598,EAW90599,EAW90600,BAC02693,BAC02694,BAC02695,BAC02696,BAF84499,AAH39735,BAA09770,BAA24070,Q14162,Q8NHD2,Q8NHD3,Q8NHD4,Q8NHD5 Hs.647430 GDB:9784917 KIAA0149|MGC47738|SREC protein-coding 1314385 SCARF2 scavenger receptor class F, member 2 The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 15489334,12477932,12154095 91179 AC007731,CH471176,AB024433,AB052951,AF088043,AF522196,BC000584,BC009326,NM_153334,NM_182895 EAX02965,EAX02966,BAD93345,BAC53753,AAN45861,AAH00584,AAH09326,Q58A83,Q8N2I5,Q96GP6,NP_699165,NP_878315 Hs.474251 NSR1|SREC-II|SREC2|SRECRP-1 protein-coding 1602765 SCARNA1 small Cajal body-specific RNA 1 677774 NR_002997,AL020997,AJ609484 Hs.689694 ACA35 miscrna 1602538 SCARNA10 small Cajal body-specific RNA 10 11157760 692148 NR_004387,AF308283 U85 miscrna 1602760 SCARNA11 small Cajal body-specific RNA 11 677780 NR_003012,AC006064,AJ609487 Hs.689692 ACA57 miscrna 1602762 SCARNA12 small Cajal body-specific RNA 12 12032087 677777 NR_003010,AY077739 Hs.689636 U89 miscrna 1602771 SCARNA13 small Cajal body-specific RNA 13 12409454 677768 NR_003002,AF492209 Hs.448753 U93 miscrna 1602537 SCARNA14 small Cajal body-specific RNA 14 14602913 692149 NR_004388,AY349601 U100 miscrna 1602761 SCARNA15 small Cajal body-specific RNA 15 677778 NR_003011,AC105339,AJ609485 Hs.594129 ACA45 miscrna 1602759 SCARNA16 small Cajal body-specific RNA 16 677781 NR_003013,AC015815,AJ609486 Hs.709040 ACA47 miscrna 1602770 SCARNA17 small Cajal body-specific RNA 17 15556860,12032087 677769 NR_003003,AC090227,BK005569,AY077741 U91 miscrna 1602774 SCARNA18 small Cajal body-specific RNA 18 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16361266 677765 NR_003139,AC022416,AM055742 Hs.693283 U109 miscrna 1602773 SCARNA2 small Cajal body-specific RNA 2 15556860,12477932 677766 BC071822,NR_003023,AL356488,BK005568 Hs.550815 HBII-382|mgU2-25/61 miscrna 1602937 SCARNA20 small Cajal body-specific RNA 20 16373490 677681 NR_002999,AC104763 ACA66 miscrna 1602775 SCARNA21 small Cajal body-specific RNA 21 16373490 677763 NR_003000,AC104581 ACA68 miscrna 1602769 SCARNA22 small Cajal body-specific RNA 22 677770 NR_003004,AL132868,AJ609470 Hs.676951 ACA11 miscrna 1602766 SCARNA23 small Cajal body-specific RNA 23 677773 NR_003007,AC079375,AJ609482 Hs.689695 ACA12 miscrna 1642104 SCARNA27 small Cajal body-specific RNA 27 100124533 AM413021,NR_003703,AL451187 Hs.659987 miscrna 1602938 SCARNA3 small Cajal body-specific RNA 3 11387227 677679 NR_002998,AL590723,BK000438 HBI-100 miscrna 1602768 SCARNA4 small Cajal body-specific RNA 4 677771 NR_003005,AL355388,AJ609483 Hs.678903 ACA26 miscrna 1602764 SCARNA5 small Cajal body-specific RNA 5 12032087 677775 NR_003008,AC013726,AY077737 Hs.663619 U87 miscrna 1602767 SCARNA6 small Cajal body-specific RNA 6 12032087 677772 NR_003006,AC013726,AY077738 Hs.689637 U88 miscrna 1602772 SCARNA7 small Cajal body-specific RNA 7 12032087 677767 NR_003001,AC078868,AY077740 Hs.675953 U90 miscrna 1602763 SCARNA8 small Cajal body-specific RNA 8 12032087 677776 NR_003009,AL591206,AY077742 Hs.689635 U92 miscrna 1602604 SCARNA9 small Cajal body-specific RNA 9 15556860,12032087 619383 NR_002569,AP003499,BK005567 Z32|mgU2-19/30 miscrna 1350717 SCASI spinocerebellar ataxia with saccadic intrusions 11960835 260415 GDB:11510209 1351812 SCCD Schnyder crystalline corneal dystrophy 7801 GDB:9955558 1606286 SCCPDH saccharopine dehydrogenase (putative) 16710414,16341674,16303743,15489334,14702039,12477932,10810093 51097 NM_016002,AL591848,CH471148,CQ783258,AF151807,AK075178,AW515488,BC026185,BG258610,BM786495,CR595124,CR601818,CR602614,CR612370,CR618077,CR620016,CR621491,CR621663 NP_057086,CAH73844,CAH73846,EAW77161,CAF86462,AAD34044,BAC11453,AAH26185,Q5VTK4,Q8NBX0 Hs.498397 CGI-49|FLJ43187|RP11-439E19.2 protein-coding 735301 SCD stearoyl-CoA desaturase (delta-9-desaturase) Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an iron-containing enzyme that catalyzes a rate-limiting step in the synthesis of unsaturated fatty acids. The principal product of SCD is oleic acid, which is formed by desaturation of stearic acid. The ratio of stearic acid to oleic acid has been implicated in the regulation of cell growth and differentiation through effects on cell membrane fluidity and signal transduction. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 and SCD5 (MIM 608370), have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Zhang et al. (1999) [PubMed 10229681]; Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM] 1304415,1580863 10229681,17852835,17636091,17614770,16723740,16213227,15907797,15855323,15851470,15708362,15662557,15609334,15489334,15164054,14967823,14967817,14683458,12477932,12401889,12061775,11677241,11415448,11397803,10922050,9373149,9362069,8125298,7909540,6102994,21148 1304415 6319 NM_005063,AF320307,AL139819,CH471066,AB032261,AB208982,AF097514,AF109362,AI740935,AK222862,BC005807,BC062303,BI827092,BM546583,BU940035,CD245516,CF454075,CR612541,S70284,Y13647 NP_005054,AAK54510,CAH72823,CAH72824,EAW49827,EAW49828,EAW49829,EAW49830,BAA93510,BAD92219,AAD29870,AAQ13510,BAD96582,AAH05807,AAH62303,AAB30631,CAA73998,O00767,Q59GX7,Q5QTQ8,Q9P1L1 Hs.558396,Hs.597496 GDB:364130 FADS5|MSTP008|PRO0998|SCD1 protein-coding 1349660 SCD5 stearoyl-CoA desaturase 5 Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM] 737633 17468887,16806233,15907797,15610069,12727354,12477932,12815040 737633 79966 NM_001037582,NM_024906,AC073413,AF389338,AK024685,CH471057,AL831891,BC004936,BC048971,CB155881,CR601926,CR621269,CR621321,DB479400,DR763368 NP_001032671,NP_079182,EAX05904,EAX05905,AAP31443,BAB14961,AAY40977,EAX05902,EAX05903,CAD38567,AAH04936,AAH48971,Q86SK9,Q86UC8,Q9BSN4 Hs.379191 ACOD4|FADS4|FLJ21032|HSCD5|SCD2|SCD4 stearoyl-coa desaturase 4 protein-coding 1344605 SCDP stearoyl-CoA desaturase (delta-9-desaturase) pseudogene 10229681 10805 GDB:9958358 1312935 SCEL sciellin The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. 1580863 14632196,11112355,9813070,15274303,12477932,9373149,8125298,1377656 8796 NM_144777,NM_003843,AL137140,CH471093,AF045941,AK025320,AK222720,BC020726,BC047536 NP_659001,NP_003834,CAH70475,CAH70476,EAW80568,EAW80569,AAC78461,BAD96440,AAH20726,AAH47536,O95171,Q53H61,Q5W0S8,Q5W0S9,Q5W0T0,Q86X00,Q8WW87 Hs.534699 GDB:9956975 FLJ21667|MGC22531 protein-coding 1350281 SCFD1 sec1 family domain containing 1 1580863 15489334,15302935,14702039,14565970,12665801,12506202,12477932,10048485,9373149,9195952,8125298,15029241,16189514 23256 NM_016106,NM_182835,AL121852,CH471078,AB020724,AF067205,AF086916,AF092139,AF110646,AF319958,AK022127,AK222820,AK290410,BC017734,BG028643,BU198450,CA454055,CD697934,CR602903,CR617066,CR622514 NP_057190,NP_878255,EAW65967,EAW65968,BAA74940,AAC17907,AAP97146,AAD40381,AAD48586,AAG50273,BAD96540,BAF83099,AAH17734,Q53GW1,Q8WVM8 Hs.369168 C14orf163|KIAA0917|RA410|SLY1|STXBP1L2 protein-coding 1348082 SCFD2 sec1 family domain containing 2 737633,1580863 15489334,14702039,12477932 737633 152579 NM_152540,AC023107,AC023154,AC079995,AC098821,AC108153,CH471057,AB074276,AK024713,AK096833,AY299407,BC012458,BC021137,BC032453 NP_689753,EAX05442,EAX05443,BAC04872,AAP57259,AAH12458,AAH21137,AAH32453,Q8WU76 Hs.302287 FLJ21060|FLJ39514|STXBP1L1 protein-coding 734327 SCG2 secretogranin II (chromogranin C) The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. 1580863 9473216,14970115,2745426,17584765,16807684,16101435,15815621,15572199,15489334,12788858,12477932,11853870,10678772,10648883,10619397,9709974,9654353,9100282,8825061,8617499,2053134,1425774 7857 NM_003469,AC012512,AF106540,AF145702,CH471063,BC022509,M25756 NP_003460,AAY24243,EAW70811,AAH22509,AAA36607,P13521 Hs.516726 GDB:5875351 CHGC|SN|SgII secretogranin 2 protein-coding 732003 SCG3 secretogranin III The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. 12975309,17200173,16303743,15489334,15125023,14597614,12533531,12477932,12388744,12098761,8825061,8663421,7917832,2053134 29106 AC020892,CH471082,AF078851,AF453583,AK075314,AK290175,AY359093,BC009511,BC014539,CR597634,CR609040,NM_013243 NP_037375,EAW77425,EAW77426,AAD44483,AAL67431,BAF82864,AAQ89451,AAH09511,AAH14539,Q8WXD2 Hs.232618 GDB:10797031 FLJ90833|SGIII protein-coding 731406 SCG5 secretogranin V (7B2 protein) 1580863 3134253,7913882,17617923,17334394,16713569,15489334,14767469,12646671,12477932,11439082,8617287,8162254,7722516,6625600,3530373,3293987,3234177,2840270,2776483,1989596 6447 NM_003020,AC123768,AJ290438,CH471125,BC005349,BC093053,CR541824,CR599060,CR617148,CR626061,Y00757 NP_003011,CAB90397,EAW92261,EAW92262,EAW92263,AAH05349,AAH93053,CAG46623,CAA68726,P05408,Q6FHD0 Hs.156540 GDB:120376 7B2|P7B2|SGNE1|SgV protein-coding 735247 SCGB1A1 secretoglobin, family 1A, member 1 (uteroglobin) 1580863 17928103,17716718,17957145,17693780,17507989,17338426,17207022,17094107,16797381,16764982,16703373,16690962,16423471,16387800,16215398,16081627,16061484,15829319,15813809,15744536,15677460,15549500,15489334,15480316,15467329,15297273,15148962,15148333,14990020,14735466,14719079,14669228,14551164,12927696,12642831,12477932,12204889,12200800,12127976,10587371,18316584,18243143,18201431,12100044,12082592,12014016,12003994,11967037,11788998,11774099,11434507,11278724,11258696,11193760,10470078,9643286,9022046,7733299,7664082,7521325,3275712,3167058,1395029,1284526 7356 NM_003357,AP003064,CH471076,U01102,X59875,BC004481,CR541780,U01101,X13197 NP_003348,EAW74018,AAA18297,CAA42532,AAH04481,CAG46579,AAA81885,CAA31584,P11684,ABM84301,ABM87768 Hs.523732 GDB:135040 CC10|CC16|CCSP|UGB secretoglobin, family 1a, member 1 protein-coding 1351548 SCGB1C1 secretoglobin, family 1C, member 1 16381901,15489336,15489334,12477932,12406855,11076863,1915264 147199 NM_145651,AC069287,AY026938,BC069287,BC111427,BC111433,BK000201 NP_663626,AAK08972,AAH69287,AAI11428,AAI11434,DAA00358,Q8TD33,CAL37525,CAL38648,CAL38680 Hs.127059 RYD5 protein-coding 1351140 SCGB1D1 secretoglobin, family 1D, member 1 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. This gene product represents one component of a heterodimeric molecule present in human tears whose elution profile is consistent with prostatein, a tetrameric molecule composed of three peptide components in heterodimers. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 15, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. 1580863 10066439,15489334,12477932,9720917 10648 NM_006552,AP002793,AP003306,CH471076,AJ224171,BC062693,BC069170,BC069289 NP_006543,EAW74007,CAA11863,AAH62693,AAH69170,AAH69289,O95968 Hs.202686 GDB:9958089 LIPA|LPHA|MGC71958 protein-coding 1345787 SCGB1D2 secretoglobin, family 1D, member 2 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. 1580863 10066439,17163411,15668787,15489334,12576445,12477932,12022875,9720917 10647 NM_006551,AP003306,CH471076,AJ224172,AL708956,BC069290,BC104838,BC104840 NP_006542,EAW74009,CAA11864,AAH69290,AAI04839,AAI04841,O95969 Hs.204096 GDB:9958087 LIPB|LPHB protein-coding 1606365 SCGB1D4 secretoglobin, family 1D, member 4 15340161,15034037,12975309 404552 NM_206998,AP003306,CH471076,AY236538,AY359052,BC130639,BC130645 NP_996881,EAW74011,AAP69948,AAQ89411,AAI30640,AAI30646,Q6XE38 Hs.473247 protein-coding 1347983 SCGB2A1 secretoglobin, family 2A, member 1 1580863 16166429,16020486,15489334,15151203,12826312,12539042,12477932,12022875,11446459,10066439,9806831,9720917,9504814 4246 NM_002407,AP003306,CH471076,AF071219,AJ224173,BC062218 NP_002398,EAW74008,AAC79996,CAA11865,AAH62218,O75556 Hs.97644 GDB:9863038 LPHC|MGB2|MGC71973|UGB3 protein-coding 1345224 SCGB2A2 secretoglobin, family 2A, member 2 1580863 18303409,18289390,18251583,17192791,17071045,16925986,16761620,16760290,16203799,16110760,15609337,15489334,15447988,15151203,14696125,12539042,12477932,12022875,9754584,9488047,9419211,8631025 4250 NM_002411,AF015224,AP003306,CH471076,AY217100,BC067220,BC128252,BC128402,U33147 NP_002402,AAC39608,EAW74010,AAO60111,AAH67220,AAI28253,AAI28403,AAC50375,Q13296,Q6NX70 Hs.46452 GDB:9863036 MGB1|MGC71974|UGB2 protein-coding 1343531 SCGB3A1 secretoglobin, family 3A, member 1 1580863 11481438,17623056,17545522,16266985,15489334,12406855,12175512,15472908,15383627,15340161,14977834,14614327,14601057,12975309,12847263,12727813,12477932,12438750 92304 NM_052863,AC122714,CH471165,AF086152,AF313458,AF436839,AY040564,AY359064,BC029176,BC072673 NP_443095,EAW53751,AAL26217,AAQ04481,AAK82942,AAQ89423,AAH29176,AAH72673,Q96QR1 Hs.62492 GDB:11504308 HIN-1|HIN1|LU105|MGC87867|PnSP-2|UGRP2 protein-coding 1346821 SCGB3A2 secretoglobin, family 3A, member 2 In addition to regulating thyroid-specific expression of genes, thyroid transcription factor (TITF1; MIM 600635) controls the transcription of genes specifically expressed in lung, such as surfactant proteins (e.g., SFTPA1; MIM 178630) and uteroglobin (UGB; MIM 192020). Mice lacking Ttf1 die immediately after birth from respiratory failure caused by profoundly hypoplastic lungs (Kimura et al., 1996 [PubMed 8557195]). The UGRP1 gene encodes a uteroglobin-related protein and is a downstream target of TITF1.[supplied by OMIM] 18201431,18089940,16195814,15591807,15489334,15485815,12975309,12847263,12477932,12175512,11813133,11682631,10949149,8557195 117156 NM_054023,AB223046,AC011352,AF439544,CH471062,AF313455,AF439545,AY358979,BC024232 NP_473364,BAE78654,AAQ04559,EAW61818,AAL26215,AAQ04560,AAQ89338,AAH24232,Q2L6B3,Q96PL1,ABM84019,ABM87364 Hs.483765 GDB:11504433 LU103|PNSP1|UGRP1 protein-coding 1347901 SCGN secretagogin, EF-hand calcium binding protein The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. 1580863 10811645,17083620,16189514,15766553,15489334,15237930,14702039,14574404,12477932,11709487 10590 NM_006998,AL022170,AL512384,CH471087,AF420280,AK094387,AK289477,BC000336,BC003036,BM511122,BQ477463,Y16752 NP_008929,CAI21585,CAH72415,EAW55487,EAW55488,AAL16052,BAF82166,AAH00336,AAH03036,CAA76365,O76038,Q96P10 Hs.116428 GDB:9957692 CALBL|DJ501N12.8|SECRET|SEGN|setagin protein-coding 1320587 SCHIP1 schwannomin interacting protein 1 10669747,17045569,14702039,12477932,11701967,9110174,8619474 29970 AC092943,AC107312,AC131150,CH471052,AF070614,AF145713,AF145714,AF145715,AK091871,BC005947,BC036535,BX648179,CR593613,CR607011,CR607434,DQ157847,DQ157848,NM_014575,AC021654,AC063955,AC068770,AC092861 EAW78659,EAW78660,EAW78661,EAW78662,AAC25386,AAF34241,AAF34242,AAF34243,AAH05947,AAH36535,ABA42889,ABA42890,Q9P0W5,ABM82116,ABM85300,NP_055390 Hs.134665 GDB:11503049 FLJ39160|SCHIP-1 protein-coding 1350815 SCIN scinderin 1580863 11568009,16344560,16303743,15489334,15342343,14702039,12853948,12477932,12438125,11572484,9819354,1621245,1331119,14743216 85477 NM_001112706,AC005281,AC011891,AC073232,CH236948,CH471073,AB067492,AF276507,AK027778,AK075123,AK075198,AK290363,BC021090,CA448540,DB196860,NM_033128 NP_149119,NP_001106177,AAD15423,AAS07450,EAW93645,EAW93646,EAW93647,EAW93648,BAB67798,AAK60494,BAB55361,BAC11416,BAC11465,BAF83052,AAH21090,Q75MG0,Q8NBV9,Q9Y6U3,ABM82959,ABM86150 Hs.633359,Hs.655515 KIAA1905 protein-coding 1352722 SCKL2 Seckel syndrome 2 11781686 347729 1347820 SCKL3 Seckel syndrome 3 14571270 386616 731355 SCLT1 sodium channel and clathrin linker 1 SCLT1 acts as a linker protein between the voltage-gated sodium channel Na(v)1.8 (SCN10A; MIM 604427) and clathrin (see CLTC, MIM 118955) (Liu et al., 2005 [PubMed 15797711]).[supplied by OMIM] 15797711,14702039,12766061,12477932 132320 NM_144643,AC093783,AC093826,CH471056,AK055217,AK093361,AK122852,BC014677,BC040258,BC064428,BC121057,BC121058,BC128051,CD679143,CD691962,CR593773 NP_653244,EAX05167,EAX05168,EAX05169,BAB70876,AAH64428,AAI21058,AAI21059,AAI28052,Q96NL6 Hs.654690 CAP1A|FLJ30655|FLJ36042|MGC70542|hCAP-1A protein-coding 1343598 SCLY selenocysteine lyase Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM] 1580863 16925092,14702039,12477932,10692412,6461656,1483038 51540 NM_016510,AC016757,AC016776,CH471063,AB209458,AF175767,AK001377,AK127520,BC000586,BC007891,BC018966,CR597540,CR597637,CR605720,CR610086,DN995828 NP_057594,AAY24333,AAY24221,EAW71135,EAW71136,EAW71137,EAW71138,EAW71139,BAD92695,AAF36816,BAA91659,AAH00586,AAH07891,Q59FK2,Q96I15,ABM84160,ABM87563 Hs.471785 SCL protein-coding 1314031 SCMH1 sex comb on midleg homolog 1 (Drosophila) 1580863 14702039,12477932,12167701,10653359,10524249,17081983,16713569,16710414,16169070,15489334,14973489 22955 NM_001031694,NM_012236,AL110502,AL391730,AL606484,CH471059,AF149045,AF149046,AK023124,BC009752,BC021252,BX640721,CR457161,CR590672 NP_001026864,NP_036368,CAH72791,CAH72793,CAH72794,CAH72795,CAH72796,EAX07181,EAX07182,EAX07183,EAX07184,EAX07185,AAF01150,AAF01151,AAH09752,AAH21252,CAE45840,CAG33442,Q96GD3,ABM83593,ABM86837 Hs.571874 GDB:9957766 Scml3 protein-coding 1343784 SCML1 sex comb on midleg-like 1 (Drosophila) 1580863 9570953,15772651,15489334,12477932 6322 NM_001037540,NM_006746,NM_001037535,NM_001037536,CH471074,EU370780,Z93242,AF160728,BC009193,BC026159,BC105028,BI461014,BX647757 NP_001032629,NP_006737,NP_001032624,NP_001032625,EAW98928,EAW98929,EAW98930,EAW98931,EAW98932,ABY68575,CAI42727,CAI42728,CAI42729,CAI42730,AAD47635,AAH26159,AAI05029,Q5H966,Q5H967,Q5H968,Q9UN30,ABZ92430 Hs.109655 GDB:6898757 protein-coding 1352337 SCML2 sex comb on midleg-like 2 (Drosophila) 1580863 10331946,15489334,15302935,14702039,12952983,12477932 10389 NM_006089,AL031007,AL096763,CH471074,Z93023,AK022824,AL833937,BC040497,BC051913,BC064617,Y18004 NP_006080,CAI42220,CAI42221,EAW98937,EAW98938,EAW98939,CAD38792,AAH51913,AAH64617,CAB38943,Q5JXE6,Q5JXE7,Q9UQR0 Hs.495774 GDB:9956498 protein-coding 1322066 SCML4 sex comb on midleg-like 4 (Drosophila) 14702039,12477932 256380 NM_198081,AL096816,AL512592,CH471051,AB072902,AK074125,AK093571,BC021582,BC033286,CR975586,DC410126 NP_932347,CAI42848,CAI13629,CAI13630,CAI13632,EAW48393,EAW48394,EAW48395,EAW48396,BAB84951,BAC04198,AAH33286,Q5T0T9,Q8N228,ABZ92125 Hs.486109 FLJ36252|dJ47M23.1 protein-coding 1349086 SCN10A sodium channel, voltage-gated, type X, alpha subunit Voltage-gated sodium channels are integral membrane glycoproteins that are responsible for the initial rising phase of action in most excitable cells. They are composed of a large alpha subunit that may be associated with one or more smaller beta subunits. Sodium channels can be differentiated by their primary structure, kinetics, and relative sensitivity to the neurotoxin tetrodotoxin (TTX). Sodium channels, particularly those with TTX-resistant currents, have been found to accumulate in the region of peripheral nerve injury and may be important in chronic pain. SCN10A encodes a TTX-resistant channel that is restricted to the peripheral sensory nervous system (Rabert et al., 1998 [PubMed 9839820]).[supplied by OMIM] 1580863 9839820,16598065,16506887,16382098,12591166,10198179 6336 NM_006514,AC116038,AC137625,CH471055,CQ891317,AF117907 NP_006505,EAW64543,CAH68722,AAD30863,Q9Y5Y9 Hs.250443 GDB:3750014 Nav1.8|PN3|SNS|hPN3 protein-coding 1342640 SCN11A sodium channel, voltage-gated, type XI, alpha subunit Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM] 10623608,16382098,15302875,12536125,12384689,11144347,10580103,10444332 11280 NM_014139,AC116038,AC123903,AF126739,CH471055,CS275932,AF109737,AF150882,AF188679,AJ417790,AY686224 NP_054858,AAD53407,EAW64544,EAW64545,EAW64546,CAJ84379,AAF24976,AAF24980,AAF17480,CAD10507,AAT95434,Q9UI33,Q9UKU5 Hs.591657 GDB:9957636 NAV1.9|NaN|SCN12A|SNS-2 sodium channel, voltage-gated, type xi, alpha protein-coding 1351823 SCN12A sodium channel, voltage-gated, type XII, alpha 10623608 337933 AF109737 GDB:9954901 735777 SCN1A sodium channel, voltage-gated, type I, alpha subunit The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels (Goldin et al., 1986 [PubMed 2429308]; Isom, 2002 [PubMed 11779698]).[supplied by OMIM] 727292,1580863 10742094,18489610,18413471,18275929,18251839,18093548,18076640,18056581,18021921,17928445,17927801,17621480,17565594,17544618,17537961,17507202,17436242,17397047,17347258,17065438,17054685,17054684,17030758,17001291,16713920,16541393,16505326,16430863,16382098,16380441,16326807,16210358,16054936,15880351,15715999,15525788,15508916,15277629,15263074,15249644,15087100,14738421,14702039,14672992,14504318,13129592,12919402,12837571,12821740,12773292,12754708,12742596,12610651,12566275,12086636,12083760,11940708,11823106,11779698,11756608,11579435,11524484,11359211,11295230,11254445,11254444,10514109,8062593,2429308,1317301 727292 6323 NM_006920,AC010127,CH471058,S71446,AB093548,AB093549,AB098335,AF225985,AK094487,AY043484,M91803,X65362 NP_008851,AAX81984,EAX11318,EAX11319,AAB31605,BAC21101,BAC21102,BAC45228,AAK00217,AAK95360,CAA46439,P35498,Q585T7,Q8IUJ6 Hs.22654 GDB:118870 FEB3|GEFSP2|HBSCI|NAC1|Nav1.1|SCN1|SMEI protein-coding 1350483 SCN1B sodium channel, voltage-gated, type I, beta Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics.[supplied by OMIM] 1580863 9697698,8394762,18093548,17927801,17629415,17604911,16205844,16052353,15489334,14622265,14504340,12677453,12486163,12477932,12011299,11997395,11744748,11470829,8125980,7851891,6319405,14761957 6324 NM_001037,NM_199037,AC020907,DQ677665,U12193,AY391842,BC021266,BC030193,BC067122,BC112922,BF194996,BM805468,BT019923,L10338,L16242 NP_001028,NP_950238,ABQ01236,AAB97608,AAR25552,AAH21266,AAH67122,AAI12923,AAV38726,AAA60391,AAA61277,Q07699,Q2KHR9,Q5TZZ4,Q6TN97,Q8WU42 Hs.436646 GDB:127281 GEFSP1 protein-coding 1354096 SCN2A sodium channel, voltage-gated, type II, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. 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. 1580863 1325650,17805013,17715289,17641256,17544618,17467289,17386050,16914293,16847056,16464983,16417554,16382098,16344560,16052353,15342556,15316014,15249644,15048894,15028761,12930796,12610651,12477932,12243921,12165424,11738931,11371648,11326335,11245985,11000491,10486327,10344788,8889548,2571571,1846440,1317301,14761957,15681389 6326 NM_001040142,NM_021007,NM_001040143,AC011303,AC013438,AF059683,AF327228,AF327246,CH471058,M55662,AB208888,AK289656,AL137498,BC029489,BC047398,BC048417,BP199510,BP311214,BU729783,DA232976,M91804,M94055,X65361 NP_001035232,NP_066287,NP_001035233,AAY14971,AAC14574,AAG53412,AAG53413,EAX11328,EAX11329,EAX11330,AAB65854,BAD92125,BAF82345,AAA18895,CAA46438,Q4G159,Q59H71,Q86X25,Q86XY2,Q99250 Hs.93485 GDB:133727 HBA|HBSCI|HBSCII|NAC2|Na(v)1.2|Nav1.2|SCN2A1|SCN2A2 protein-coding 68969 SCN2A1 sodium channel, voltage-gated, type 2, alpha 1 polypeptide 1358571 1317301,10486327 1358571 6325 GDB:120367 736397 SCN2B sodium channel, voltage-gated, type II, beta 1580863 9295116,15833746,15489334,14702039,12975309,12477932,10198179,9887383,8521473,7566098,6319405 6327 NM_004588,AF049497,AP002800,CH471065,AF007783,AF049498,AF107028,AK090729,AK094643,AY358945,BC036793,BQ574152,BT019487,CR595040,CR625871,T30974,U87555 NP_004579,AAC05208,EAW67353,AAC26013,AAC05274,AAD47196,AAQ89304,AAH36793,AAV38294,AAF21472,O60939,Q5U0K8,ABM83352,ABM83560,ABM86566 Hs.129783 GDB:118871 protein-coding 736601 SCN3A sodium channel, voltage-gated, type III, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 9589372,17544618,16382098,16344560,16052353,16029190,15317864,12610651,11566500,11245985,11122339,10827173,10718198,8889548,8159690 6328 AJ276140,AJ277394,AL079365,AJ276139,BM681920,DA772987,DA796981,NM_006922,NM_001081676,NM_001081677,AC013463,AF330135,CH471058,S69887,AB037777,AF035685,AF035686,AF225986,AF225987,AF239921,AJ251507 CAC03582,CAC03583,CAC03586,CAB85895,Q53SX0,Q9C007,Q9GZM4,Q9NY46,Q9P2J1,NP_008853,NP_001075145,NP_001075146,AAY15072,AAG53414,AAG53415,EAX11331,EAX11332,EAX11333,EAX11334,EAX11335,AAB30530,BAA92594,AAC29514,AAC29515,AAK00218,AAK00219,AAF44690 Hs.435274,Hs.671090 GDB:132151 KIAA1356|NAC3|Nav1.3 protein-coding 1350710 SCN3B sodium channel, voltage-gated, type III, beta Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. 633985,1580863 15232296,10688874,11256614,16415175,16381901,16344560,15489336,15489334,15342556,15334053,14702039,12477932,12220575,11470829,11230166,11212211,11076863,10574461 633985 55800 NM_001040151,AL136589,BC126265,NM_018400,AP002765,CH471065,AB032984,AJ243396,AK055033,BC045704,BC117282,BP202832,BX106794,CR609664,DA327760,DA806480 NP_060870,NP_001035241,EAW67550,EAW67551,EAW67552,BAA86472,CAB76825,CAB66524,AAI17283,AAI26266,Q9NY72,CAL38175 Hs.4865 HSA243396|SCNB3 protein-coding 732165 SCN4A sodium channel, voltage-gated, type IV, alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. 1580863 10218481,1338909,18337730,18281721,18166706,18079277,17998485,17898326,17823953,17804458,17334961,17212350,17151947,16890191,16506889,16392038,16382098,15790667,15596759,15482957,15459238,15318338,15072700,14527681,12766226,12210802,11591859,11558801,10944223,10851391,10599760,10366610,9521881,9392583,9164815,8580427,8575757,8388676,8385647,8308722,8242056,8058156,8044656,2173143,1851726,1659948,1659668,1654742,1339144,1316765,1315496,1310898,1310531,1310396,9412493,15746172 6329 L04236,S82622,U24693,AY212253,M81758,AC127029,AF038871,CH471109,L01983,L04216,L04217,L04218,L04219,L04220,L04221,L04222,L04223,L04224,L04225,L04226,L04227,L04228,L04229,L04230,L04231,L04232,L04233,L04234,L04235,NM_000334 AAB21450,AAC14673,AAO83647,AAA60554,O60217,P35499,Q9H3L9,NP_000325,AAG43105,EAW94225,EAW94226,AAA75557,AAB59624 Hs.46038 GDB:125181 HYKPP|HYPP|NAC1A|Na(V)1.4|Nav1.4|SkM1 protein-coding 735494 SCN4B sodium channel, voltage-gated, type IV, beta Sodium channel beta subunits, such as SCN4B, are auxiliary subunits that alter the channel kinetics of voltage-gated alpha subunits (see MIM 182389).[supplied by OMIM] 1580863 12930796,17592081,15489334,14702039,12477932,1293796 6330 NM_174934,AP002800,CH471065,EF445029,AK090713,AK092285,AK124886,AY149967,BC035017,BX538328 NP_777594,EAW67351,EAW67352,ACA06071,BAC85980,AAN74584,AAH35017,Q6ZV83,Q8IWT1 Hs.65239 GDB:125182 protein-coding 731255 SCN5A sodium channel, voltage-gated, type V, alpha subunit The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. 735235,1358572,1580008,1580502,1580863 16873405,16864729,16857961,16847056,16818214,16771953,16731473,16728661,16674915,16643374,16637659,16632547,16616735,16505387,16469732,16453024,16426410,16415376,16414944,16382098,16344400,16325048,16301357,16266370,16254012,16207794,16188595,16132053,16115203,16061851,16061744,16054936,7651517,7889574,9521325,18452875,18452871,18426444,18378609,18368697,18362431,18355654,18245395,18184654,18156160,18088563,18071069,18040022,17967977,17928536,17905336,17901361,17697823,17675083,17605181,17556197,17548620,17544529,17534376,17510181,17496023,17363383,17331104,17275752,17227473,17210841,17210839,17205354,17198989,17185997,17161064,17141278,17075016,17070808,16980337,16930557,16880338,16877553,18048769,15996170,15910881,15863661,15851320,15851227,15851119,15840476,15828879,15808832,15805167,15746172,15671429,15665061,15579534,15534720,15504354,15466643,15367556,15338453,15316014,15306732,15277732,15217910,15176425,15161528,15057319,15051636,14985827,14961552,14760488,14720472,14654377,14523039,14500339,12820704,12673799,12639704,12574983,12569159,12522116,12477932,12471205,12454206,12431447,12429735,12358675,12208804,12193783,12106943,12051963,11997281,11960580,11901046,11889015,11823453,11804990,11786529,11748104,11743032,11710892,11410597,11289718,11234013,11136691,10973849,10940383,10911008,10690282,10627139,10618304,10590249,10532948,10508990,10471492,10377081,10200053,9686753,9506831,9412493,8917568,8621719,8567977,8541846,7956363,7842012,1309946 735235,1358572,1580008,1580502 6331 NM_000335,NM_001099405,NM_001099404,AP006241,CH471055,DQ086162,AB158469,AB158470,AB208866,AF482988,AJ310886,AJ310887,AJ310888,NM_198056,AJ310889,AJ310890,AJ310891,AJ310892,AJ310893,AJ310894,AJ310895,AJ310896,AY038064,AY148488,BC051374,BU845010,EF092293,EF092294,EF092295,EF629346,EF629347,M77235 NP_932173,NP_000326,NP_001092875,NP_001092874,EAW64540,EAW64541,EAW64542,AAZ06802,BAD12084,BAD12085,BAD92103,AAO91669,CAC84529,CAC84530,CAC84531,CAC84532,CAC84533,CAC84534,CAC84535,CAC84525,CAC84536,AAK74065,AAN61120,AAH51374,ABN50062,ABN50063,ABN50064,ABR15763,ABR15764,AAA58644,Q14524,Q2QFB5,Q59H93,Q75RX9,Q75RY0,Q86UR3,Q86V90,Q8IZC9,Q8WTQ6,Q8WTS0,Q8WWN5,Q8WWN6,Q96J69 Hs.517898 GDB:132152 CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1 protein-coding 1601888 SCN7A sodium channel, voltage-gated, type VII, alpha 1317577,17339538,14669210,12477932,11144347,10198179,8889548,8188276,7874451,1846440 6332 NM_002976,AC074101,AC092583,CH471058,BC062699,BC141864,CF129950,M91556,S75992 NP_002967,EAX11312,EAX11313,AAA59899,AAD14203,Q01118,Q16278 Hs.695947 GDB:132153 SCN6A protein-coding 1351349 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 1580863 9828131,17881658,17805013,16775201,16702217,16382098,16014723,15676283,15302875,15282281,10779552,10066808,9295353,7670495 6334 NM_014191,AB037525,AC013421,AC025097,AC068987,AC140060,AF049618,AF050711,AF050712,AF050713,AF050714,AF050715,AF050716,AF050717,AF050718,AF050719,AF050720,AF050721,AF050722,AF050723,AF050724,AF050725,AF050726,AF050727,AF050728,AF050729,AF050730,AF050731,AF050732,AF050733,AF050734,AF050735,AF050736,CH471111,AB027567,AF225988,AJ276141,AJ276142,AJ277395,AJ310884,AJ310885,AJ310898,AY510083,AY682081,AY682082,AY682083 NP_055006,BAA90445,AAD20439,AAD15789,EAW58197,EAW58198,EAW58199,EAW58200,EAW58201,EAW58202,BAA78033,AAF35390,CAC03584,CAC03585,CAC03587,CAC84527,CAC84528,CAC84538,AAS89692,AAT85830,AAT85831,AAT85832,Q6B4S2,Q6B4S3,Q6B4S4,Q8WWN3,Q9GZR0,Q9P2Q6,Q9UQD0 Hs.436550 GDB:631695 CerIII|MED|NaCh6|Nav1.6|PN4 protein-coding 737151 SCN9A sodium channel, voltage-gated, type IX, alpha subunit 1599515,1599517,1580863 7720699,18439623,18347287,18079277,18070140,18070139,18060017,18036246,17985268,17950472,17928139,17597096,17470132,17430993,17410110,17404832,17294067,17167479,17135418,17008310,16988069,16392115,16382098,16216943,16088330,15958509,15955112,15929046,15385606,15302875,15178348,14985375,11283792,10198179,9169448 1599515,1599517 6335 NM_002977,AC107082,AC108146,AJ580918,AJ580919,CH471058,DQ148960,AJ277393,AJ310882,AJ310883,AJ310897,AY682084,AY682085,AY682086,DQ857292,X82835 NP_002968,AAY14794,CAE45644,CAE45645,EAX11314,EAX11315,EAX11316,AAZ77737,CAC84550,CAC84551,CAC84537,AAT85833,AAT85834,AAT85835,ABI51981,CAA58042,Q15858,Q3YAA2,Q53QP0 Hs.705382 GDB:3750013 ETHA|NE-NA|NENA|Nav1.7|PN1 protein-coding 1319050 SCNM1 sodium channel modifier 1 1580863 16710414,16189514,15489334,14702039,12920299,12477932,7566098 79005 NM_024041,XM_001721083,AL592424,CH471121,AA374943,AI791817,AK056322,BC000264,BF669691,CR607615,CR620396 NP_076946,XP_001721135,CAI16381,CAI16382,EAW53466,BAB71149,AAH00264,Q9BWG6,ABM83457,ABM86668 Hs.432360 MGC3180 protein-coding 736324 SCNN1A sodium channel, nonvoltage-gated 1 alpha 1624161,1624117,1580863 11244092,8589714,17905853,17766193,17596527,17537777,17460608,17434346,17381423,17170520,17020471,16912051,16463024,16423824,16373340,16172422,15853823,15755725,15746174,15596218,15498559,15489334,15328345,15308680,15169674,15069064,14556380,12923071,12562778,12477932,12167593,12107247,12082592,11756432,11752024,11696533,11675945,11359767,11266509,10642508,10586178,10447117,10409621,10404817,10212229,9654208,9612219,9575806,9169421,8986818,8278374,8023962,7896277,14996668 1624161,1624117 6337 NM_001038,NG_007506,AC005840,AC006057,AF060913,CH471116,L29007,U81961,Z92978,AK025536,AK172792,AY365119,BC006526,BC037417,BC062613,DQ402522,X76180 NP_001029,AAD28355,EAW88803,EAW88804,AAA21813,AAC31773,AAC31774,CAB07505,AAQ67341,AAH06526,AAH62613,ABD72218,CAA53773,P37088,Q6UP09 Hs.591047 GDB:366596 ENaCa|ENaCalpha|FLJ21883|SCNEA|SCNN1 protein-coding 734263 SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) 737753,1624136,1624161,1624117,1580863 9118951,11244092,8521520,18443236,18184758,18004211,17766193,17586416,17560176,17510235,17460608,17434346,17381423,17241874,16943574,16579800,16463024,16432044,16423824,15853823,15661075,15596218,15489334,15483078,15328345,15327619,15198480,15188166,14761957,14553964,12714866,12562778,12477932,12473861,12204893,12180079,12167593,12107247,11997395,11934701,11906720,11845306,11826291,11567041,11470829,11375929,11359767,11181995,10845103,10642508,10506918,10493829,10404817,10212229,9813171,9794716,9674649,9626162,9169421,8986818,8601645,8589714,8524790,7954808,7762608,7550319,7499195,7490094,14996668,11863256 737753,1624136,1624161,1624117 6338 AJ005386,AJ005387,AJ005388,AJ005389,AJ005390,AJ005391,AJ005392,AJ005393,CH471145,U16023,AF260226,AU105979,BC036352,DQ402523,L36593,X87159,AJ005384,AJ005385,AC130452,AF260228,AJ005383,NM_000336,AC008915 EAW55833,EAW55834,AAA67036,AAK49394,AAH36352,ABD72219,AAA75459,CAA60632,P51168,Q8WY56,Q8WY57,AAL48196,AAL48197,CAA06508,NP_000327 Hs.414614 GDB:434471 ENaCb|ENaCbeta|SCNEB protein-coding 1346343 SCNN1D sodium channel, nonvoltage-gated 1, delta 1580863 7499195,18073141,17472699,16930535,16710414,16423824,15489334,15308635,15084585,14726523,14702039,14645214,12477932,8661065 6339 NM_002978,AL162741,CH471183,AK093239,AK093372,AK127357,AK131558,BC036752,BC040882,BC071784,BC125074,BC125075,DQ898175,DQ898176,EU489064,U38254 NP_002969,CAI23261,CAI23262,CAI23263,EAW56251,EAW56252,EAW56253,EAW56254,BAC04105,BAD18692,AAH36752,AAH71784,AAI25075,AAI25076,ABI64068,ABI64069,ACA51868,AAC50283,P51172,Q08AQ2,Q09HT0,Q09HT1,Q5T7L4,Q6IPQ3,Q6ZMN3 Hs.512681 GDB:6053678 ENaCd|ENaCdelta|MGC149710|MGC149711|SCNED|dNaCh protein-coding 732847 SCNN1G sodium channel, nonvoltage-gated 1, gamma 737754,1624147,1580863 8640238,11244092,8521520,18443236,17998393,17766193,17698725,17560176,17510235,17460608,17434346,17381423,17241874,17199078,16716084,16630545,16463024,16423824,16172412,15864129,15702377,15661075,15596218,15489334,15328345,15198480,15188166,14996668,12548396,12477932,12473862,12167593,12107247,11906720,11845306,11805112,11463765,11180614,10727408,10642508,10404817,10391210,9351815,9169421,8986818,8824247,7762608,7550319,7499195,7490094 737754,1624147 6340 NM_001039,AC099482,AF356502,CH471145,U35630,U48937,U53836,U53837,U53839,U53841,U53844,U53845,U53846,U53847,U53848,U53849,U53850,U53852,U53853,BC059391,BC069652,DQ402524,L36592,U48936,X87160 NP_001030,AAK50910,EAW55837,EAW55838,AAC50217,AAC50744,AAC50745,AAC50747,AAC50749,AAC50752,AAC50753,AAC50754,AAC50755,AAC50756,AAC50757,AAC50758,AAC50760,AAC50761,AAH59391,AAH69652,ABD72220,AAA75460,AAC50737,CAA60633,P51170,Q6LCK3,Q6LCK4,Q6LCK5,Q6LCK6 Hs.371727 GDB:568759 ENaCg|ENaCgamma|PHA1|SCNEG protein-coding 1344696 SCO1 SCO cytochrome oxidase deficient homolog 1 (yeast) Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. 1599513,1580863 9878253,17189203,16735468,16520371,16344560,16091356,15659396,15489334,15229189,12477932,11579424,11027508,11013136,10545952,10218584,9110174,8889548,8619474,2835635,2543907 1599513 6341 NM_004589,AC002347,AF295386,CH471108,AF026852,AF131816,AF183424,AK074588,AK098826,BC015504,BM981070,BM994602,CR593722,CR611401,CR615183,CR620606,CR621918,CR624800,DA571370 NP_004580,AAG23836,EAW89997,AAD08641,AAD20051,AAG09693,AAH15504,O75880,ABM82531,ABM85724 Hs.14511 GDB:9863257 SCOD1 protein-coding 1347479 SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog of the yeast SCO2 gene. 1580020,1580863 10545952,18332255,17850752,17189203,16728594,16091356,16083427,15489334,15461802,15229189,15146197,14994243,12538779,12529303,12477932,12020273,11931660,11751685,11673586,10749987,10218584 1580020 9997 NM_005138,AF177385,AL021683,BC102024,BC102025,BQ878572,CN409692,CR456569 NP_005129,AAF05313,CAA16671,AAI02025,AAI02026,CAG30455,O43819,CAK54599,CAK54898 Hs.709799 GDB:9958568 MGC125823|MGC125825|SCO1L protein-coding 1323537 SCOC short coiled-coil protein 14702039,12477932,11303027 60592 AC093671,AC114771,CH471056,AB015335,AF330205,AF448857,AK027797,AK092794,AL133580,BC016511,BC062684,CR594454,NM_032547,CR595594,CR597979,CR599465,CR600463,CR601810,CR605728,CR608866,CR611757,CR618746,CR619629,CR620438 NP_115936,EAX05102,EAX05103,EAX05104,BAA88116,AAK01707,AAP97732,BAB55375,AAH16511,AAH62684,Q9UIL1 Hs.480815 HRIHFB2072|SCOCO protein-coding 1349372 SCOCP1 short coiled-coil protein pseudogene 1 317767 733061 SCP2 sterol carrier protein 2 This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. The full-length nature of all transcript variants has not been determined. 1580863 15182174,1703300,17418802,17085434,15489334,15449949,14661971,14563822,12641450,12477932,12356316,11591437,10856712,10706581,10623549,10585412,10567245,10529196,10412765,10407148,10341103,9048555,8640304,8300590,8243660,8063752,8004106,7788802,7698762,7654720,2294101,1755959,1718316,1483685,16189514 6342 NM_001007098,NM_001007099,NM_001007250,NM_001007100,AC099677,AL445183,CH471059,U11313,AB208789,BC005911,BC067108,BG028932,BG432929,BX537618,BX537619,CR594806,CR595480,NM_002979,CR612478,CR618704,CR620432,M55421,M75883,M75884,S52450 NP_002970,NP_001007099,NP_001007100,NP_001007251,NP_001007101,CAH72590,EAX06760,EAX06761,EAX06762,AAB41286,BAD92026,AAH05911,AAH67108,AAA03559,AAA03557,AAA03558,AAB24921,P22307,Q59HG9,Q5VVZ1,Q6NXF4 Hs.476365,Hs.709369 GDB:126877 DKFZp686C12188|DKFZp686D11188|NLTP|NSL-TP|SCPX protein-coding 1351146 SCPEP1 serine carboxypeptidase 1 70518,1580863 17531811,15489334,15340161,14702039,12975309,12754519,12477932,11447226 70518 59342 NM_021626,AC004584,AC007114,CH471109,AF113214,AF265441,AF282618,AK027373,AK092928,AY358559,BC010078,BC072405,CR609709,CR614420,CR625202,DC344612 NP_067639,EAW94520,EAW94521,AAG39285,AAG44699,AAG16692,BAB55069,AAQ88923,AAH72405,Q9H2J9,Q9HB40 Hs.514950 HSCP1|RISC protein-coding 68543 SCRG1 scrapie responsive protein 1 Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. 9660755,16199891,15340161,12975309,12477932,9516475 11341 NM_007281,AC093849,AC097534,AX002933,AX002935,CH471056,AJ224677,AY359040,BC017583,BC067829,CR542142 NP_009212,EAX04752,EAX04753,EAX04754,CAA12059,AAQ89399,CAG46939,O75711,Q6FGG5,Q8WWG0,AAI52792 Hs.7122 GDB:9958017 MGC26468|SCRG-1 scrapie responsive gene 1 protein-coding 1321471 SCRIB scribbled homolog (Drosophila) 2293492 15231747,18042258,17855372,17509663,17081983,17043654,16964243,16619250,16611247,16482544,16344308,16137684,16103886,15975580,15806148,15775968,15649318,15489334,15345747,15302935,15261375,15144186,14710229,14681682,12477932,12168954,11027293,8590280,14743216,15761153 2293492 23513 NM_015356,NM_182706,AC105219,CH471162,AF240677,AF271734,AF318352,AY062238,BC009490,BC014632,BC026045,BC036905,BC044627,BC063590,D63481 NP_056171,NP_874365,EAW82196,EAW82197,EAW82198,AAP88017,AAP88018,AAL55859,AAL38976,AAH09490,AAH14632,AAH44627,AAH63590,BAA09768,Q14160,Q8WYU8,AAI46322 Hs.436329 CRIB1|SCRB1|SCRIB1|Vartul protein-coding 1348666 SCRN1 secernin 1 1580863 10942595,16630140,15489334,12853948,12477932,12221138,12168954,11921445,9847074,8724849 9805 NM_014766,AACC02000087,AC004912,AC007285,CH471073,AB071705,AK289514,BC040492,D83777 NP_055581,EAL24458,AAQ96874,EAW93926,EAW93927,EAW93928,BAE91926,BAF82203,AAH40492,BAA12106,Q12765 Hs.520740 KIAA0193|SES1 protein-coding 1317110 SCRN2 secernin 2 15489334,12477932,12221138 90507 AC003665,CH471109,AK290646,BC002980,BC010408,BC017317,CR590226,NM_138355,CR591968,CR595401,CR596796,CR602946,CR604407,CR606349,CR611349,CR613816,CR626068 NP_612364,EAW94790,EAW94791,EAW94792,BAF83335,AAH02980,AAH10408,AAH17317,Q96FV2,Q9BU04,ABM83735 Hs.239718 Ses2 protein-coding 1312871 SCRN3 secernin 3 15815621,15489334,14702039,12477932,12221138,11238933,8889548 79634 AK057912,BC031821,BC119684,BC119685,BG492502,BM725063,CR614109,NM_024583,AC018470,CH471058,AF279776,AK026795 AAH31821,AAI19685,AAI19686,Q0VDG4,Q0VDG5,NP_078859,AAY24217,EAX11140,EAX11141,EAX11142,EAX11143,BAB15555 Hs.470679 FLJ23142|MGC149597|SES3 protein-coding 1314736 SCRT1 scratch homolog 1, zinc finger protein (Drosophila) This gene is a member of the Snail family of C2H2-type zinc finger transcription factors. It codes for a neural-specific transcriptional repressor that binds to E-box motifs. The protein may promote neural differention and may be involved in cancers with neuroendocrine features. 1580863 11274425,15489334,12477932,11687288,11181995 83482 NM_031309,AF205589,CH471162,AL512683,AY014996,BC014675,BC024967,BC093806,BX420136 NP_112599,EAW82125,AAK01467,AAH14675,AAH93806,Q52LS7,Q9BWW7 Hs.31746 GDB:11503051 DKFZp547F072|SCRT protein-coding 1348701 SCRT2 scratch homolog 2, zinc finger protein (Drosophila) 1580863 11780052,11274425 85508 NM_033129,AL121758,CH471133,AY129025 NP_149120,CAC00548,EAX10660,EAX10661,AAM98768,Q9NQ03 Hs.355284 GDB:11503052 protein-coding 735506 SCT secretin Secretin belongs to the glucagon family. This protein is an endocrine hormone and its major site of production is the endocrine S cells located in the proximal small intestinal mucosa. The release of active secretin is stimulated by either fatty acids or an acidic pH in the duodenum. This hormone stimulates the secretion of bicarbonate-rich pancreatic fluids and has also been shown to regulate the growth and development of the stomach, small intestine, and pancreas. Secretin deficiency has been implicated in autistic syndrome, suggesting that the hormone could have a neuroendocrine function in addition to its role in digestion. 729921,1580863 11060443,16888198,16888194,15706223,15610158,15118068,12160732,12133828,11814635,11278902,10807420,10764961,10576771,9440501,8579602,7782300,2315322 729921 6343 NM_021920,AF244355,AP006284,CH471158 NP_068739,AAG31443,EAX02368,P09683,AAI46572,AAI52726 Hs.632324 GDB:270550 protein-coding 736213 SCTR secretin receptor The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. 729676,1580863 7612008,17711922,17678920,16935383,16819820,16344560,16192632,15706223,15670850,14702039,14645499,12477932,11517171,10537138,10437774,9506976,9453500,9440501,8579602,8575789,8390245,7864894,7782300,7700244,3186683,1646711,1335692 729676 6344 NM_002980,AB065660,AC013275,CH471103,AK055551,AY462218,BC035757,DA930115,U13989,U20178,U28281 NP_002971,BAC05886,AAY14741,EAW95219,AAR25625,AAH35757,AAA64949,AAC50106,AAA87556,P47872,Q53T00,Q8IV17 Hs.706755 GDB:270546 SR protein-coding 1319121 SCUBE1 signal peptide, CUB domain, EGF-like 1 1580863 12270931,15234972,16753137,12477932,11597177,11087664,10591208 80274 NM_173050,CH471138,Z82214,Z99756,AF525689,AK127719,BC047916,BC127263,BG901065,BX280767 NP_766638,EAW73295,EAW73296,EAW73297,EAW73298,EAW73299,EAW73300,EAW73301,EAW73302,CAI21674,AAN77133,BAC87098,AAH47916,AAI27264,Q6ZS56,Q86TI6,Q8IWY4,AAI56732 Hs.133995 GDB:11507793 protein-coding 1352842 SCUBE2 signal peptide, CUB domain, EGF-like 2 1580863 15489334,14702039,12477932,12270931,11528127 57758 NM_020974,AC079296,AJ400877,CH471064,AF086390,AK092153,AK092553,AK123039,AK131552,BC111690 NP_066025,CAB92285,EAW68602,EAW68603,BAC85521,BAD18686,AAI11691,Q6ZMN9,Q9NQ36 Hs.523468 CEGP1|Cegb1|Cegf1|FLJ16792|FLJ35234|MGC133057 protein-coding 1312575 SCUBE3 signal peptide, CUB domain, EGF-like 3 15234972,15489334,14702039,14574404,12477932,12270931 222663 Z97832,AF452494,AK092010,AK092062,AK291218,AY639608,NM_152753,CH471081,BC052263,BX537875,CR936607,CR936873 EAX03810,EAX03811,EAX03812,EAX03813,CAI20187,AAN76808,BAC03789,BAC03798,BAF83907,NP_689966,AAU08347,AAH52263,CAD97875,CAI56752,Q5CZ68,Q7Z3I8,Q8IX30,Q8NAV8,CAI59785 Hs.12923 CEGF3|DKFZp686B09105|DKFZp686B1223|DKFZp686D20108|FLJ34743 protein-coding 1601802 SCXA scleraxis homolog A (mouse) 16421571,15338228,12837285,12617822,11585810 100129885 XM_001717912,NM_001008271,AC110280,BK000280 XP_001717964,NP_001008272,DAA00239,Q7RTU7 SCX protein-coding 1625822 SCXB scleraxis homolog B (mouse) 642658 NM_001080514 NP_001073983 Hs.553250 protein-coding 1344147 SCYE1 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) The protein encoded by this gene is a cytokine that is specifically induced by apoptosis. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor of SCYE1 (pro-SCYE1) is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex. Therefore, pro-SCYE1 may function in binding RNA as part of the tRNA synthetase complex in normal cells and in stimulating inflammatory responses after proteolytic cleavage in tumor cells. 724676,1580021,1580863 11741979,11306575,7545917,9405472,14500886,17443684,17303557,17018011,16674941,15935955,15489334,14982944,14702039,14688335,14588117,12729910,12543078,12477932,12161535,11157763,10852899,10358004,9878398,7929199,1400342,15857508,16189514 724676,1580021 9255 NM_004757,AC093680,CH471057,AK095951,BC014051,BI258927,CR542281,CR602436,CR604744,CR624995,U10117 NP_004748,EAX06203,EAX06204,AAH14051,CAG47076,AAA62202,Q12904,ABM84225,ABM87736 Hs.591680 GDB:9955551 AIMP1|EMAP II|EMAP-2|EMAP-II|EMAP2|EMAPII|p43 protein-coding 1352273 SCYE1P small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) pseudogene 170547 NG_001053,AL136992 GDB:11507795 bA400P21.1 pseudo 1316462 SCYL1 SCY1-like 1 (S. cerevisiae) This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. 12783284,10843802,17081983,16903783,16713569,16261899,15963946,15504359,15489334,15459234,15342556,12477932,12036289,11118629,11042159,8889548 57410 NM_020680,NM_001048218,AF255613,AP000769,CH471076,AB047077,AB051427,AB051428,AF225424,AF297709,BC009967,BC069233,BP281963,BU728709,CR610529 NP_065731,NP_001041683,AAF81422,EAW74395,EAW74396,EAW74397,EAW74398,EAW74399,EAW74400,BAB55454,BAB55458,BAB55459,AAG09726,AAG17902,AAH09967,AAH69233,Q96KG9 Hs.238839 GKLP|HT019|MGC78454|NKTL|NTKL|P105|TAPK|TEIF|TRAP protein-coding 1603372 SCYL1BP1 SCY1-like 1 binding protein 1 16710414,15781263,15489334,14702039,12783284,12477932 92344 NM_152281,AL162399,CH471067,AF143889,AK021814,AK057661,BC034482,BC035999,BC047476,BC064945 NP_689494,CAI15420,CAI15421,EAW90878,EAW90879,EAW90880,AAD32702,BAB13903,AAH47476,AAH64945,Q5T7V8 Hs.183702 FLJ11752|MGC51263|MGC70512|NTKL-BP1|NTKLBP1|RP11-545I10.1 protein-coding 1343640 SCYL2 SCY1-like 2 (S. cerevisiae) 17587408,16914521,16903783,15809293,15489334,14702039,12477932,10718198 55681 AB037781,AK000936,AK001597,AK024274,AK026160,AK027551,AK125091,BC011525,NM_017988,BC012387,BC063798,CR621893,AC026110,CH471054 EAW97634,EAW97635,EAW97636,BAA92598,BAA91433,BAA91778,BAB14869,BAB55194,AAH12387,AAH63798,Q6P3W7,Q9NWE9,NP_060458,EAW97630,EAW97631,EAW97632,EAW97633 Hs.506481 CVAK104|FLJ10074|KIAA1360 protein-coding 1603625 SCYL3 SCY1-like 3 (S. cerevisiae) 12651155,16710414,16381901,16344560,15489336,15489334,15003124,12477932,11076863 57147 NM_020423,NM_181093,AL031297,CH471067,AA844031,AF540957,AK292507,AL117233,AY144493,BC014662,BX647352,CR606380,DB285397 NP_065156,NP_851607,CAB52564,CAI23517,CAI23518,EAW90867,EAW90868,AAN23123,BAF85196,CAB55300,AAN41656,AAH14662,Q0JRZ7,Q8IZE3,CAL38717,ABM84394,ABM87343 Hs.443551,Hs.435560 PACE-1|PACE1|RP1-97P20.2 protein-coding 1343319 SCZD1 schizophrenia disorder 1 2903449 6377 GDB:120370 1342478 SCZD10 schizophrenia disorder 10 (periodic catatonia) 11001582 63944 GDB:11507797 1350306 SCZD2 schizophrenia disorder 2 6378 GDB:118874 1346514 SCZD3 schizophrenia disorder 3 7647789 6365 GDB:635974 1353691 SCZD4 schizophrenia disorder 4 8178837 6379 GDB:1387047 1345019 SCZD5 schizophrenia disorder 5 9226366 6380 GDB:6915017 1348335 SCZD6 schizophrenia disorder 6 8400 GDB:9864736 1348629 SCZD7 schizophrenia disorder 7 8401 GDB:9864734 1351973 SCZD8 schizophrenia disorder 8 9758604 8806 GDB:9954385 1343330 SCZD9 schizophrenia disorder 9 10784452 51785 GDB:9992714 1347535 SD segregation distortion (Drosophila) 6381 GDB:9958888 1353066 SDAD1 SDA1 domain containing 1 737633 17353931,11790298,15635413,15607425,14976432,14702039,12477932,11483580,9847074 737633 55153 NM_018115,AC110615,AC112719,AC115628,CH471057,AF132198,AK001360,AK022683,AK024031,BC048351,BC054040,BC063797,BC107895,BJ989617,BU619826,CR749574,DN602051 NP_060585,EAX05761,EAX05762,AAG35544,BAA91648,BAB14177,BAB14790,AAH54040,AAH63797,AAI07896,CAH18368,Q9H359,Q9NVU7 Hs.632604 DKFZp686E22207|FLJ10498 protein-coding 1349630 SDAD1P1 SDA1 domain containing 1 pseudogene 1 157489 NG_006994,AC022911 pseudo 1352231 SDAD1P2 SDA1 domain containing 1 pseudogene 2 404669 730864 SDC1 syndecan 1 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. 1580863,1643125,1643127,1643128,1643129,1643133,1357925 2324102,18093920,18064305,18006945,17625591,17579341,17455248,17431390,17413980,17339423,17314405,17149710,16982797,16945147,16884912,16857657,16840194,16778379,16773719,16720645,16636895,16341674,16286510,16247452,16132527,16020957,16007225,15902740,15886501,15770719,15743035,15728209,15648090,15489334,15479743,15459490,15383330,15297422,15126321,14972511,14744776,14701864,14645569,14637022,14630925,14521955,12975379,12947106,12920224,12904296,12902511,12885232,12879463,12824007,12749851,12660231,12477932,12464176,12144130,12091355,11830493,11567105,11179419,11168765,11024024,10506830,10497173,9792716,9660868,9565572,9548182,9373149,9342064,9294130,9111037,9089390,9050911,8889548,8570206,8163535,8125298,8118875,7959737,7690138,7592967,7592855,2519615,2173154,1664683,1644217,1442271,1339431,16817962,16157597,16189514 1643125,1643127,1643128,1643129,1357925 6382 AAB21434,AAB23935 NM_001006946,NM_002997,AC104792,CH471053,Z48199,AJ551176,AK222739,BC008765,BM785035,BM910157,CB321970,CR592915,CR600772,CR620183,J05392,X60306 NP_001006947,NP_002988,AAX93151,EAX00828,EAX00829,EAX00830,EAX00831,CAA88235,CAD80245,BAD96459,AAH08765,AAA60605,CAA42851,AAB21434,AAB23935,P18827,Q53H42,Q53QV0,Q546D3,ABM84191,ABM87594 Hs.224607 GDB:126375 CD138|SDC|SYND1|syndecan 1643262,1643271 BW207_H,BW214_H protein-coding 734386 SDC2 syndecan 2 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. 1580863 18093920,18032547,17623663,17516498,17457918,17261577,17035092,16997272,16440330,16303743,16253987,15936998,15489334,15297422,15183101,14999018,14976204,14702039,14674716,14527339,12885232,12860968,12860416,12708751,12477932,12200971,12055189,12036876,11567105,11373281,11161813,11024024,11023673,11018053,10772816,10734053,10704377,10497173,10446183,10375199,9869645,9660868,9391086,9342064,9259269,9244383,9111037,8997243,8889549,8832397,8570206,8187643,8157651,7690138,7551962,7524669,2948951,2745554,2523388,1315572,16817962,16157597,12676536,16982797 6383 AP003477,AP003548,CH471060,AA114891,AK025488,AK074530,AK097839,AK130131,BC030133,BC049836,CK825252,CR593136,CR596137,CR596820,CR610141,J04621,NM_002998 P34741,Q6PIS6,NP_002989,EAW91755,EAW91756,BAB15150,AAH30133,AAH49836,AAA52701 Hs.1501,Hs.598247 GDB:120065 HSPG|HSPG1|SYND2 protein-coding 1343030 SDC3 syndecan 3 1580863,1357925 18093920,18040049,17368428,17018662,16710414,16674815,16052590,15489334,14504279,12477932,11968010,11751872,11527150,10460248,9553134,9455484,9388509,9089390,8662884,8344959,8175719,1556152,16817962,16157597,9342064,7690138,12885232,11567105,11024024,10497173,9111037,8570206,16189514,11152476 1357925 9672 NM_014654,AL445235,CH471059,AB007937,AF248634,AL049426,BC013974,BQ887307,CR610672,CR619177 NP_055469,CAI22245,CAI22250,EAX07636,EAX07637,EAX07638,BAA32313,AAK39969,AAH13974,O75056,ABM82826,ABM86012 Hs.158287 GDB:341947 N-syndecan|SDCN|SYND3 syndecan 3 (n-syndecan) protein-coding 730877 SDC4 syndecan 4 The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. 1580863 1500433,18158320,18093920,17901052,17879962,17870067,16822948,16636895,16319082,16253987,16087677,16007225,15968398,15819887,15731100,15572366,15489334,15033938,14652650,14637022,12885232,12509413,12493766,12477932,12377772,12241528,12011116,11916978,11889131,11805099,11801740,11780052,11567105,11549250,11456484,11024024,10911369,10497173,9660868,9582338,9556568,9373149,9342064,9111037,8797100,8621465,8570206,8125298,8019004,7916598,7690138,7626103,16817962,16157597,16982797 6385 NM_002999,AL021578,CH471077,D79206,AK222695,AK223243,BC030805,CR542045,CR542074,D13292,X67016 NP_002990,CAA16520,EAW75860,EAW75861,EAW75862,BAA19613,BAD96415,BAD96963,AAH30805,CAG46842,CAG46871,BAA02550,CAA47406,P31431,Q53FN9,ABM81644,ABM84824,Q6FGN3 Hs.632267 GDB:134806 MGC22217|SYND4 protein-coding 1349419 SDC4P syndecan 4 pseudogene 12652906 376844 NR_001580,AC004832,AF520746 Hs.534651 GDB:11510211 pseudo 1343667 SDCBP syndecan binding protein (syntenin) The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 9391086,11498591,15371445,11152476,9883737,11179419,18234474,17666427,17451681,17081065,16322237,15518882,15489334,15276154,15254681,15126321,15081807,12679023,12643545,12597860,12477932,12403354,12241528,12202822,11891216,12037664,10230395,11432873,10770943,10473577,9920925,9511750,1117941,12775419,15014045 6386 NM_005625,NM_001007069,NM_001007068,NM_001007067,NM_001007070,AC068522,CH471068,AF000652,AF006636,AK128645,BC013254,BC113674,BC113676,BG111210,BG772269,BU160865,CR593446,CR610009,U83463 NP_005616,NP_001007070,NP_001007069,NP_001007068,NP_001007071,EAW86812,EAW86813,EAW86814,EAW86815,EAW86816,AAB97144,AAC52050,AAI13675,AAI13677,AAB51246,O00560 Hs.200804 GDB:9834529 MDA-9|ST1|SYCL|TACIP18 protein-coding 1317056 SDCBP2 syndecan binding protein (syntenin) 2 633988,1580863 11152476,16344560,16189514,15489334,14702039,12477932,11780052,11102519,9110174,8619474 633988 27111 NM_080489,NM_015685,AL136531,CH471133,AA514519,AA907131,AF131809,AF159228,AJ292244,AJ292245,AK022318,BC002727,CB147569,CB154525,DB018804 NP_536737,NP_056500,CAC16178,CAH72383,EAX10639,EAX10640,AAD20049,AAF80369,CAC21716,CAC21573,AAH02727,Q9H190 Hs.657015 GDB:11507801 FLJ12256|SITAC18|ST-2 protein-coding 1317135 SDCCAG1 serologically defined colon cancer antigen 1 17081983,16103875,15489334,14702039,12477932,10575219,9610721 9147 NM_004713,AL591767,AL627171,CH471078,AF039687,AK000913,AK093783,BC006001,BC020794,BC031007,BC041351,BC056687,BC064364,BC107764,BM477286,BM835709,BX640804,BX640807,BX648598,BX648753 NP_004704,EAW65741,EAW65742,EAW65743,EAW65744,EAW65745,EAW65746,EAW65747,AAC18036,BAA91420,AAH06001,AAH20794,AAH41351,AAH56687,AAH64364,AAI07765,CAE45886,CAE45889,O60524,Q32Q66,Q49AB4,AAI46282,AAI48733 Hs.655964 GDB:9955106 FLJ10051|NY-CO-1 protein-coding 1321752 SDCCAG10 serologically defined colon cancer antigen 10 12975309,12477932,11329013,9610721,9373149,8125298 10283 NM_005869,AC008898,AC092354,AC109465,CH471137,AF039692,AF039693,AK225105,AK225161,AY358569,BC012117,BG193598,BX647971,CR604860,CR619264 NP_005860,EAW51364,EAW51365,AAC18041,AAC18042,AAQ88932,AAH12117,Q6UX04 Hs.371372 GDB:9955862 NY-CO-10 protein-coding 1314253 SDCCAG3 serologically defined colon cancer antigen 3 16332174,14702039,12477932,9610721,17353931,15388255 10807 NM_001039708,NM_006643,NM_001039707,AL592301,CH471090,AA742964,AF039688,AK001296,AL559847,AY129014,AY349357,BC014515,BM549484,BQ723499,CR597452,CR610693,CR615820 NP_001034797,NP_006634,NP_001034796,CAI13936,CAI13937,CAI13940,CAI13941,CAI13942,CAI13943,EAW88228,EAW88229,EAW88230,EAW88231,AAC18037,BAA91607,AAM98757,AAQ56721,AAH14515,Q5SXN6,Q6YL45,Q96C92,ABM84009,ABM87348 Hs.94300 GDB:9958361 NY-CO-3 protein-coding 1349476 SDCCAG3L serologically defined colon cancer antigen 3-like 388478 NG_005510,AC090377 pseudo 1344755 SDCCAG8 serologically defined colon cancer antigen 8 15489334,15146197,14702039,14654843,12559564,12477932,11042152,9610721 10806 NM_006642,AC092782,AC092806,AC096539,CH471148,AF039690,AF161348,AF250731,AK023586,BC015867,BC032454,BC041942,BC045832,CN336494 NP_006633,EAW77084,EAW77085,EAW77086,EAW77087,EAW77088,EAW77089,EAW77090,AAC18039,AAF28908,AAO27830,AAH32454,AAH45832,Q86SQ7 Hs.591530 GDB:9958360 CCCAP|HSPC085|NY-CO-8 protein-coding 1316372 SDF2 stromal cell-derived factor 2 The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. 1580863 8918255,15489334,12477932 6388 NM_006923,AC005726,AC010761,CH471159,BC000500,BC001406,BT006709,CR456708,CR596149,CR598630,D50645 NP_008854,EAW51121,EAW51122,EAW51123,EAW51124,AAH00500,AAH01406,AAP35355,CAG32989,BAA09312,Q6IBU4,Q99470,ABM82916,ABM86106 Hs.514036 GDB:5584420 protein-coding 1320780 SDF2L1 stromal cell-derived factor 2-like 1 15489334,15461802,12975309,12477932,11162531,10591208 23753 NM_022044,AP000553,CH471095,AB043007,AF277316,AY359118,BC132849,BC132851,BM560445,CR456570,CR612706 NP_071327,EAW59467,BAB18277,AAK69113,AAQ89476,AAI32850,AAI32852,CAG30456,Q86U75,Q9HCN8,AAI39838,CAK54600,CAK54899 Hs.303116 GDB:10795338 protein-coding 731601 SDF4 stromal cell derived factor 4 17442889,16303743,15489334,14702039,12477932,10648803,9373149,9254016,8609160,8125298 51150 BC022375,CR593462,CR597574,CR598350,CR601306,CR602130,CR604861,CR607329,CR610310,CR611224,CR612176,CR612360,CR612558,CR616274,CR617936,CR621113,CR624179,CR625758,CR626225,CR626721,DC405714,L79912,NM_016547,AL162741,CH471183,AF132749,AF153686,AF178986,AK000717,AK027277,AK055331,AK075352,AK126927,AK222521,AK223079,BC006211,BC007625,BC008917,BC011244,NM_016176 AAH22375,AAL40084,Q53G52,Q53HQ9,Q5T7L7,Q5T7L8,Q5T7L9,Q96AA1,Q9BRK5,Q9UN53,NP_057260,NP_057631,CAI23251,CAI23252,CAI23254,EAW56271,EAW56272,EAW56273,EAW56274,EAW56275,EAW56276,EAW56277,AAL75950,AAD51612,AAF44350,BAB55012,BAC11563,BAD96241,BAD96799,AAH06211,AAH07625,AAH08917,AAH11244 Hs.42806 Cab45|RP5-902P8.6 protein-coding 733521 SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. 1580863,724604,1300048 7550341,16143825,16826196,17376234,17298551,16751257,16344560,15489334,15242332,14702039,12794685,12612654,12477932,11120693,10746566,9373149,8142412,8125298,7798181 724604 6389 NM_004168,AC021087,AF171017,CH471235,S79641,AB208991,AK094879,AK131350,AK131478,AK225027,AK291311,BC001380,BC004328,BC041016,CA427314,CR592508,CR616767,CR624138,D30648,DA160919,DQ402982,L21936 NP_004159,AAD51006,EAW50982,EAW50983,EAW50984,AAB35332,BAD92228,BAD18623,BAF84000,AAH01380,AAH41016,BAA06332,ABD77315,AAA20683,P31040,Q0QF12,Q59GW8,Q6ZMV2,Q8IW48 Hs.440475 GDB:378037 FP|SDH2|SDHF protein-coding 1604191 SDHALP1 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 14702039,12477932 255812 XR_042174,NR_003264,AC024937,AF088032,BC071730 Q05BB6,Q14DM1 Hs.652427 SDHAL1 pseudo 1351623 SDHALP2 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 14702039,12477932 727956 XR_015171,AC069513,AK057533,AK057553,AK074764,BC053551,BC062438,BC064564,BC073879,NR_003265 BAB71523,AAH53551,AAH62438,Q05BC2,Q96LZ1 Hs.334587,Hs.652427 SDHAL2 pseudo 1343437 SDHAP3 succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 728609 XR_015331,NR_003263,AC091849 SDHACL|SDHAL pseudo 1318463 SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. 1624151,1580863,1300048 2302193,16143825,18310297,18057081,17967865,17943698,17804857,17667967,17652212,17639058,17599579,17308434,17298551,17298303,17200167,17143317,17102080,16912137,16751257,16710414,16472267,16405730,16322339,16314641,15489334,15328326,15087120,14718574,14685938,14512425,12618761,12612654,12477932,12362046,12213855,12000816,11897817,11404820,8291026,7778269,7622059,2494655 1624151 6390 AJ549502,AL049569,CH471134,U17886,AK312056,BC007840,BF796275,BU554163,CR593493,CR595888,CR596635,CR596760,CR606201,CR610874,D10245,DQ403007,M32246,NM_003000,U17248 NP_002991,CAE47739,CAB96822,EAW94828,EAW94829,AAA80581,BAG34992,AAH07840,BAA01089,ABD77140,AAA35708,AAA81167,P21912,Q0QEY7,Q70SX8 Hs.465924 GDB:119589 FLJ92337|IP|PGL4|SDH|SDH1|SDHIP protein-coding 1354327 SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. Several related pseudogenes are located in different genomic regions. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants encoding different isoforms have been described. 1599507,1580863 9533030,16143825,2302193,17804857,17667967,17599579,17298551,17250422,16322339,15665296,15489334,15342702,12658451,12612654,12477932,11897817,11404820,11062460,9851882,9714607,17102080,16405730 1599507 6391 NM_003001,NM_001035511,U57877,NM_001035512,NM_001035513,AF039594,AL592295,CH471121,AB201252,AB211234,AB211235,AB212048,AK131051,BC012735,BC020808,BC033626,BC066329,BG724095,CR457102,CR591478,CR594069,CR594901,CR597554,CR602016,CR606805,CR608606,CR613513,CR614683,CR618151,CR621523,D49737 NP_002992,NP_001030588,BAA31998,AAB41838,O75609,Q3C259,Q3C2D8,Q3C2H4,Q5VTH3,Q6IAQ2,Q99643,NP_001030589,NP_001030590,AAC27993,CAH70271,EAW52597,EAW52598,EAW52600,EAW52601,EAW52602,EAW52603,EAW52604,BAE46977,BAE46978,BAE46979,BAE46980,AAH20808,AAH33626,AAH66329,CAG33383,EAW52599 Hs.444472 GDB:9255413 CYB560|CYBL|PGL3|QPS1|SDH3 protein-coding 1345704 SDHD succinate dehydrogenase complex, subunit D, integral membrane protein Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The subunit D protein is one of two integral membrane proteins anchoring the complex to the matrix side of the membrane. Mutations in SDHD have been linked to hereditary paraganglioma. 1580035,1302858,1580863 9533030,16143825,2302193,17804857,17727250,17667967,17639058,17599579,17576205,17526943,17308434,17298551,17298303,17227803,17102080,16797480,16322339,16314641,16303743,15623805,15531530,15489334,15365827,15328326,15066320,15032977,12883710,12811540,12782822,12696072,12612654,12477932,12114404,12111639,12007193,12000816,11897817,11605159,11526495,11391798,11391796,11343322,11323050,11156372,10657297,10482792,7814027,1301144 1580035,1302858 6392 CR617068,NM_003002,AB026906,AP002007,CH471065,AB006202,AK075360,BC005263,BC009574,BC012603,BC015188,BC015992,BC022350,BC070307,BC071755,BC071756,BT007238,CR456932 CAG33213,O14521,ABM83627,ABM87291,NP_002993,BAA81889,EAW67181,EAW67182,EAW67183,BAA22054,AAH05263,AAH09574,AAH12603,AAH15188,AAH15992,AAH22350,AAH70307,AAH71755,AAH71756,AAP35902 Hs.356270 GDB:132456 CBT1|PGL|PGL1|SDH4 protein-coding 1350543 SDHDP1 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1 10482792 29773 GDB:10796057 1350059 SDHDP2 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2 10482792 29772 GDB:10796059 1348181 SDHDP3 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3 10482792 29771 NG_005647,AC007849 GDB:10796061 pseudo 1343144 SDHDP4 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4 10482792 29770 NG_005646,AC005669,AC099782 GDB:10796063 pseudo 1351853 SDHDP5 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5 10482792 29769 GDB:10796065 1604017 SDHDP6 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6 11902138,10482792 29768 NG_003255,AL928711 GDB:10796067 pseudo 1345071 SDHDP7 succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7 11902138 388606 NG_003255,AL031284,AL928711 pseudo 1352696 SDK1 sidekick homolog 1, cell adhesion molecule (chicken) 1580863 17307840,16344560,15213259,14702039,12230981,9110174,8619474 221935 NM_001079653,AC004935,AC004984,AC011284,AC015968,AC017000,AC069286,AC073316,AC073550,AC079231,AC092427,CH236953,CH471144,AF131799,AK055987,AK055988,NM_152744,AK074077,AK074083,AL833354,AY310398,CR597652,CR605257,DB065853,DB454012 NP_689957,NP_001073121,EAW87286,EAW87287,EAW87288,BAB71066,BAB84903,BAB84909,AAP75619,Q7Z5N4 Hs.653013 GDB:11511071 FLJ31425 sidekick homolog 1 (chicken) protein-coding 1321280 SDK2 sidekick homolog 2 (chicken) The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. 12230981,10819331,9310325,16625196,15489334,15213259,14702039,12477932 54549 NM_019064,AC087301,CH471099,AB040947,AK001694,AK091827,AL137357,BC045763,BC066363,BQ182396,CD629657,CR616107 NP_061937,EAW89126,EAW89127,EAW89128,EAW89129,BAA96038,BAA91841,CAB70709,AAH45763,AAH66363,Q58EX2 Hs.435719 GDB:11511073 FLJ10832|KIAA1514 protein-coding 1348108 SDPR serum deprivation response (phosphatidylserine binding protein) This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein has also been shown to be a substrate for protein kinase C (PKC) phosphorylation. 1580863 2390065,10191091,16189514,15815621,15489334,15146197,12665801,12477932,9566962,8241023,8012384 8436 NM_004657,AC098872,CH471058,Z55164,AF085481,AK026943,BC016475,BX113402,CN286178,R55388 NP_004648,AAY24078,EAX10833,AAD17795,AAH16475,O95810,ABM82366,ABM85543 Hs.26530 GDB:9955150 PS-p68|SDR protein-coding 732810 SDR-O orphan short-chain dehydrogenase / reductase 14702039,12477932,12234675 121214 NM_148897,AC026120,CH471054,AK122782,AY044434,BC101551,BC101553 NP_683695,EAW96967,AAK95856,AAI01552,AAI01554,Q8NEX9 Hs.380178 FLJ16333|MGC126600|MGC126602|RDHS|SDRO protein-coding 734053 SDS serine dehydratase This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. 1300048,1580863 2674117,18289528,14646100,12477932,10347152,8889548,435568,163697,163593,31199 10993 NM_006843,AC010178,CH471054,AK292760,BC020750,BG534053,BG566257,BU740747,CR609930,J05037 NP_006834,EAW98054,EAW98055,EAW98056,BAF85449,AAH20750,AAA36604,P20132,Q8WW81 Hs.654416 GDB:9600595 SDH protein-coding 1319395 SDSL serine dehydratase-like 1580863 16189514,15489334,12477932 113675 NM_138432,AC009773,AC010178,CH471054,AF134473,BC009849,BC091479 NP_612441,EAW98057,EAW98058,EAW98059,AAP97250,AAH09849,AAH91479,Q96GA7,ABM84069,ABM87428 Hs.337594 SDS-RS1 protein-coding 1349913 SDU skeletal dysplasia (unspecified) 6393 GDB:265301 1346173 SEA S13 erythroblastosis oncogene homolog (avian) 6395 GDB:119591 1626595 SEBOX SEBOX homeobox Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM] 10922053 645832 NM_001083896,NM_001080837,AC002094,AF284337,CH471159,DV080297 NP_001077365,NP_001074306,AAG14458,EAW51081,Q9HB31 Hs.2257 OG-9|OG9|OG9X protein-coding 1344783 SEC11A SEC11 homolog A (S. cerevisiae) 17353931,15489334,12477932,9373149,8125298 23478 BC014508,CR457127,CR591824,CR592431,CR593030,CR596388,CR599809,CR602988,CR609347,CR610378,CR611144,CR617421,CR620100,AC087732,AC115102,CH471101,AB209437,AF061737,AF087906,AF090315,AF108945,AK223224,BC000359,NM_014300 AAH00359,AAH14508,CAG33408,P67812,Q59FM3,Q6IAM7,Q7Z4Z6,ABM82752,NP_055115,EAX01952,EAX01953,EAX01954,EAX01955,EAX01956,BAD92674,AAD17526,AAP97204,AAC36354,AAD19640,BAD96944 Hs.9534 1810012E07Rik|SEC11L1|SPC18|SPCS4A|sid2895 sec11-like 1 (s. cerevisiae) protein-coding 1353467 SEC11B SEC11 homolog B (S. cerevisiae) 157708 XM_088367,XM_001714776,XM_937710,AC091076 XP_088367,XP_001714828,XP_942803 Hs.567734 SEC11L2|SPCS4B protein-coding 1348413 SEC11C SEC11 homolog C (S. cerevisiae) 1580863 15489334,12477932 90701 NM_033280,AC021241,CH471096,AF212233,BC009703 NP_150596,EAW63089,EAW63090,AAK14919,AAH09703,Q9BY50 Hs.45107 SEC11L3|SPC21|SPCS4C protein-coding 1344614 SEC13 SEC13 homolog (S. cerevisiae) The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. 1580863 14517296,12665801,12477932,10788476,10747849,9373149,9110174,8619474,8125298,7876304,15146057,14743216,14702039,11252894,7987303,11031247,18160040,16407955,16189514,15489334 6396 NM_183352,AC022384,CH471055,AB209554,AF052155,AK095629,AK223019,BC002634,BC006167,BC091506,BE621430,CR592819,CR606959,CR608262,CR608768,CR613266,CR616331,CR620379,CR623402,EF036494,L09260 NP_899195,EAW64077,EAW64078,BAD92791,BAD96739,AAH02634,AAH06167,AAH91506,ABO65080,P55735,Q53GB2,Q59FA6 Hs.166924 GDB:433924 D3S1231E|SEC13L1|SEC13R|npp-20 protein-coding 1320418 SEC14L1 SEC14-like 1 (S. cerevisiae) The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. 1580863 8697811,16381901,15489336,14702039,11707779,11230166,11076863,9110174,8619474 6397 NM_001039573,NM_003003,AC068594,CH471099,AB208811,AK094232,AK130317,AK290913,BC142979,BM802278,BX537448,CR624475,D67029,U79284 NP_001034662,NP_002994,EAW89469,EAW89470,BAD92048,BAC85325,BAF83602,AAI42980,CAD97690,BAA11048,AAB50220,Q0JT23,Q59HE8,Q6ZP00,Q7Z3R7,Q92503,CAL38341,AAI43078,AAI50322 Hs.464184 GDB:1230185 DKFZp686C06176|PRELID4A|SEC14L protein-coding 736725 SEC14L2 SEC14-like 2 (S. cerevisiae) This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. 1580863 7364757,11444841,10829015,17334589,16267002,15998911,15790807,15461802,15033454,14702039,12972248,12757856,12477932,12454003,12429094,11258795,11226224,10591208,10574461,9847074,9373149,9036970,8125298 23541 AB033012,AB051445,AK056163,AK091402,AK223587,AL096881,AY927434,AY927435,AY927436,AY927437,AY927438,AY927439,AY927440,AY927441,BC048337,BC058915,CR456571,CR607299,NM_012429,AC004832,CH471095 BAA86500,BAB33328,BAD97307,CAB51405,AAH58915,CAG30457,O76054,Q53EQ2,Q6PD61,Q9BYA2,CAK54601,CAK54900,NP_036561,AAF19256,EAW59885,EAW59886,EAW59887,EAW59888 Hs.335614 GDB:10795340 C22orf6|KIAA1186|KIAA1658|MGC65053|SPF|TAP|TAP1 sec14 (s. cerevisiae)-like 2 protein-coding 1346355 SEC14L3 SEC14-like 3 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. 1580863 15040456,15033454,12757856,12477932,10591208,8889548 266629 BC101003,BC101004,BQ186227,BU584962,NM_174975,AC004832,CH471095,AK131358,AY158086,AY240872,BC069641,BC101001,BC101002 AAI01003,AAI01004,AAI01005,Q495V8,Q495V9,Q495W0,Q495W1,Q6ISB2,Q6XCI7,NP_777635,AAF19258,EAW59893,EAW59894,AAO21870,AAO52677,AAH69641,AAI01002,Q9UDX4 Hs.505601 GDB:11510588 MGC119366|MGC119367|MGC119368|TAP2 protein-coding 1343842 SEC14L4 SEC14-like 4 (S. cerevisiae) The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. 1580863 15461802,15033454,14702039,12757856,12477932,10591208 284904 NM_174977,AC004832,CH471095,AK092002,AK093418,AK093448,AY158085,BC136358,BC136359,BC139912,CR456346 NP_777637,AAF19259,EAW59895,EAW59896,EAW59897,AAO21869,AAI36359,AAI36360,AAI39913,CAG30232,Q6ICM2,Q8N7N0,Q9UDX3,CAK54647,CAK54946 Hs.517541 TAP3 protein-coding 1605420 SEC14L5 SEC14-like 5 (S. cerevisiae) 9455477 9717 NM_014692,AC007011,AC026458,AC027687,CH471112,AB007880,BC045685 NP_055507,EAW85247,BAA24850,O43304,AAI66626 Hs.512856 KIAA0420|PRELID4B protein-coding 1354294 SEC16A SEC16 homolog A (S. cerevisiae) 737633 17192411,17081983,17005010,16964243,15489334,15302935,15164053,14743216,14702039,12477932,12168954,9205841,8889548 737633 9919 BC016873,XM_942490,XM_088459,NM_014866,AL592301,AB002308,AK074565,AK094041,AK094756,AK124843,AK126215,AK129634,BC001404,BC008332,BC028183,BC040710,BC051290,BC070488,BC098454,BC125018,BC125019,BM975558,DQ903855 XP_947583,XP_088459,NP_055681,CAI13948,CAI13949,CAI13950,CAI13951,CAI13952,BAA20769,BAC11063,BAC04415,AAH01404,AAH08332,AAH16873,AAH28183,AAH98454,AAI25019,AAI25020,ABI78944,O15027,Q4G0D7,Q5SXP2,Q8N2P2,Q8N9G1,Q9BV84 Hs.522500,Hs.689538 KIAA0310|RP11-413M3.10|SEC16L|kiaa0310|p250 protein-coding 737396 SEC16B SEC16 homolog B (S. cerevisiae) 17192411,16189514,15302935,14702039,12477932,11752456,11605020,11572484 89866 NM_033127,AL160007,AL356279,CH471067,AB063357,AB067515,AK074451,AK090411,AK090971,AK093939,AK098627,AV697113,BC009106,BX647819,EF125213 NP_149118,CAI16320,CAI16321,EAW91010,EAW91011,EAW91012,EAW91013,EAW91014,EAW91015,BAB61035,BAB67821,BAC03392,BAC05357,AAH09106,CAI46016,ABN42197,Q5HYF6,Q5T5J3,Q5T5J4,Q8N7D6,Q8NF68,Q96GX6,Q96JE7,Q96PW0 Hs.709633 DKFZp686C2486|FLJ23871|FLJ25761|FLJ33652|FLJ36620|LZTR2|PGPR-p117|RGPR|SEC16S regucalcin gene promotor region related protein protein-coding 1344636 SEC22A SEC22 vesicle trafficking protein homolog A (S. cerevisiae) The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. There is evidence for the use of multiple poly A sites in this gene. 61611,1580863 8621431,17499046,16344560,15489334,14702039,12477932,11042152,9501016,9094723 61611 26984 NM_012430,AC063922,AC112503,CH471052,AF100749,AK057587,BC007122,CR606488,DA308910 NP_036562,EAW79451,AAD43013,AAH07122,Q96IW7 Hs.477361 SEC22L2 protein-coding 1320628 SEC22B SEC22 vesicle trafficking protein homolog B (S. cerevisiae) The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins. There is evidence for use of multiple polyadenylation sites for the transcript. 61611,1580863 15272311,9094723,17081065,16354670,15489334,15308636,15203218,12477932,11042152,11035026,11001058,9653160,15029241,16189514 61611 9554 NM_004892,AL359758,BX537145,AF047442,AI085383,AK289875,BC001364,CD619408,CR624978 NP_004883,AAC39893,BAF82564,AAH01364,O75396,ABM83510,ABM86727 Hs.632438,Hs.705587 GDB:9957328 ERS-24|SEC22L1 protein-coding 1607079 SEC22C SEC22 vesicle trafficking protein homolog C (S. cerevisiae) The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It is localized at the endoplasmic reticulum and it is thought to play a role in the early stages of the ER-Golgi protein trafficking. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. 9501016,12975309,12477932,11001058 9117 NM_004206,NM_032970,AC092047,CH471055,AF039568,AK074576,AK292856,AY359041,BC006178,BC018437,CR595143,CR597095,CR600018,CR600923,CR606001,CR615911,CR621586,CR749670 NP_004197,NP_116752,EAW64653,EAW64654,EAW64655,EAW64656,AAD02171,BAF85545,AAQ89400,AAH06178,AAH18437,CAH18461,Q9BRL7,ABM82520,ABM85713 Hs.445892 DKFZp761F2321|MGC13261|MGC5373|SEC22L3 protein-coding 1354109 SEC23A Sec23 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. 1580863 12508121,10075675,16091426,17220478,11252894,11031247,8898360,17981133,16980979,15489334,15013749,14702039,12677423,12477932,10329445,15580264 10484 NM_006364,AL109628,CH471078,AK127355,AL137739,BC036649,BX537566,CR596813,CR598302,CR600943,CR615861,X97064 NP_006355,EAW65831,AAH36649,CAA65774,Q15436,ABM81828,ABM84273,ABM84981 Hs.272927 GDB:9957115 CLSD|MGC26267 protein-coding 1321756 SEC23B Sec23 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 8898360,16341674,16189514,15489334,15342556,12477932,11780052,10329445,10075675 10483 NM_032985,NM_006363,NM_032986,AL121893,AL121900,CH471133,AL540773,BC001151,BC001575,BC005032,BC005404,BC095404,BM473680,BM751928,BM751982,BM925053,BP244573,BX398403,CR616546,DB447110,EC528189,X97065 NP_116780,NP_006354,NP_116781,CAI12512,CAI12513,CAI12514,CAH73149,CAH73150,EAX10231,EAX10232,EAX10233,EAX10234,EAX10235,AAH05032,AAH05404,AAH95404,CAA65775,Q15437,Q503A9,Q5QPE2,ABM82079,ABM85258 Hs.369373,Hs.460238 GDB:9957114 protein-coding 1319616 SEC23IP SEC23 interacting protein COPII-coated vesicles are involved in protein transport from the endoplasmic reticulum to the Golgi apparatus. The protein encoded by this gene was identified by its interaction with a mouse protein similar to yeast Sec23p, an essential component of the COPII. This protein shares significant similarity with phospholipid-modifying proteins, especially phosphatidic acid preferring-phospholipase A1. Overexpression of this protein has been shown to cause disorganization of the endoplasmic reticulum-Golgi intermediate compartment and Golgi apparatus, which suggests its role in the early secretory pathway. 1580863 10400679,16510448,15623529,15489334,14702039,12477932,11112430 11196 AB019435,AF116723,AK000698,AK001135,AK021846,AK023238,BC002540,BC063800,BT006755,BX649119,CR612935,CR619756,NM_007190,AC027672,CH471066 EAW49371,EAW49372,EAW49373,EAW49374,BAA77392,AAO15299,AAH63800,AAP35401,Q9Y6Y8,NP_009121 Hs.435004 MSTP053|P125 protein-coding 1319800 SEC24A SEC24 related gene family, member A (S. cerevisiae) In yeast, the Sec23-Sec24 complex is a component of coat protein II (COPII; see MIM 601924)-coated vesicles that mediate protein transport from the endoplasmic reticulum. SEC24A is 1 of several mammalian proteins that show structural and functional homology to yeast Sec24.[supplied by OMIM] 1580863 11252894,11031247,17499046,17255961,15489334,12477932,10329445,10075675,16189514 10802 NM_021982,AC010301,AC106763,CH471062,L81692,AJ131244,AK026545,AL080064,AL137677,BC009325,BC019341,CD109783 NP_068817,EAW62246,CAA10334,AAH09325,AAH19341,O95486 Hs.595540 GDB:9958355 protein-coding 1319664 SEC24B SEC24 related gene family, member B (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The role of this gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10075675,11252894,11031247,17499046,17081983,16344560,16094384,12477932,10329445 10427 NM_006323,NM_001042734,AC105314,AC138782,CH471057,AI193145,AJ131245,BC040137,BC117135,BM802180,CR605949,DA498444 NP_006314,NP_001036199,EAX06241,CAA10335,AAI17136,O95487,Q0VG08,Q58EY9 Hs.292472 GDB:9956977 MGC48822|SEC24 protein-coding 1321602 SEC24C SEC24 related gene family, member C (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. 1580863 10075675,11252894,10329445,11031247,10214955,18329616,17373700,15489334,15302935,15013749,12477932,7584044,16189514 9632 NM_004922,NM_198597,AC022400,CH471083,AK098512,AL596994,AL832110,BC018928,BQ710971,D38555 NP_004913,NP_940999,EAW54515,EAW54516,EAW54517,AAH18928,BAA07558,P53992 Hs.654429 GDB:9784583 KIAA0079 protein-coding 1323325 SEC24D SEC24 related gene family, member D (S. cerevisiae) The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The role of this gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. 1580863 11252894,10329445,11031247,17210573,16189514,15231748,14702039,12477932,10075675,9872452,15580264 9871 NM_014822,AC108030,AC110079,CH471229,AB018298,AF130464,AK000709,AK001390,AK125962,AK291765,BC035761,BC037736,CR599495 NP_055637,AAY40935,EAW73653,EAW73654,EAW73655,EAW73656,BAA34475,AAD28756,BAA91334,BAF84454,AAH35761,AAH37736,O94855,Q49AI3,Q4W5D3,Q8IYI7,Q9NWP5,ABM85382,ABW03718 Hs.189641 GDB:11502425 FLJ43974|KIAA0755 protein-coding 1350188 SEC31A SEC31 homolog A (S. cerevisiae) The protein encoded by this gene is similar to yeast Sec31 protein. Yeast Sec31 protein is known to be a component of the COPII protein complex which is responsible for vesicle budding from endoplasmic reticulum (ER). This protein was found to colocalize with SEC13, one of the other components of COPII , in the subcellular structures corresponding to the vesicle transport function. An immunodepletion experiment confirmed that this protein is required for ER-Golgi transport. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 17196169,17214967,11252894,10788476,11031247,17981133,16957052,16407955,16344560,16161041,14702039,12665801,12477932,12107410,11269867,10048485,9373149,8125298,15146057 22872 AB018358,AB018359,AB020712,AF139184,AF161393,AF161452,AK001014,AK002161,AK125897,AK225934,AL049463,AL704825,AY137583,BC031292,BC039834,BC047883,BC084583,BC117221,CA397330,CR600299,CR933696,DA508741,NM_001077206,NM_001077207,NM_001077208,NM_016211,NM_014933,AC021105,AC108469,CH471057 EAX05909,EAX05910,EAX05911,EAX05912,BAA84923,BAA84924,BAA74928,AAF67836,AAF28953,AAF29012,BAC86336,CAH56418,AAN15221,AAH47883,AAH84583,AAI17222,EAX05908,CAI45995,O94979,NP_001070674,NP_001070675,NP_001070676,NP_057295,NP_055748,EAX05906,EAX05907 Hs.370024 ABP125|ABP130|DKFZp686N07171|HSPC275|HSPC334|KIAA0905|MGC90305|SEC31L1 sec31-like 1 (s. cerevisiae) protein-coding 1317006 SEC31B SEC31 homolog B (S. cerevisiae) This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. 16495487,14702039,12477932,10788476,8889548 25956 AF279139,AK093637,AK098002,AK128343,AK289975,AK293081,AL080141,BC034946,BC044569,BC053949,BC071580,BM719543,BX640914,NM_015490,AL133352,CH471066,AF274863 AAF78243,BAF82664,BAF85770,CAB45735,AAH44569,CAE45955,Q9NQW1,AAI48658,NP_056305,CAH73561,EAW49821,EAW49822,EAW49823,EAW49824 Hs.18889,Hs.523215 DKFZP434M183|SEC31B-1|SEC31L2 protein-coding 1351813 SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae) The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. 17353931,16303743,15489334,14702039,12477932,11054417,10601334,10212142,9792704,9565615,9512475,8945469,14743216 29927 CQ783967,AF077032,AF084458,AF346602,AK001689,AK027423,AK027452,AK027454,AK027458,AK074706,AK074907,AK074928,AK075148,AK129816,AL831940,AL832821,BC002951,BC029970,CR623601,NM_013336,AC011311,CH471052 EAW79324,EAW79325,EAW79326,EAW79327,CAF86948,AAD27765,AAD39847,AAK29083,BAC11283,BAC11298,BAC11434,CAD38592,CAI46127,P61619,AAI52928,AAI56689,NP_037468 Hs.518236 HSEC61|SEC61|SEC61A protein-coding 1314281 SEC61A2 Sec61 alpha 2 subunit (S. cerevisiae) The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. 1580863 14702039,12477932,11217851,10212142,9565615,10601334 55176 NM_018144,AC073160,CH471072,AF346603,AK001440,AK022027,AK022640,AK057532,AK292295,BC026179,CR607709 NP_060614,EAW86323,EAW86324,EAW86325,EAW86326,AAK29084,BAA91692,BAB13955,BAB14148,BAF84984,AAH26179,Q8TC24,Q9H9S3,Q9NVQ7 Hs.112955 FLJ10578 protein-coding 1312761 SEC61B Sec61 beta subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. 8107851,17215517,17081983,16083285,15489334,15164053,12477932,10799540,10601334,10508919,10212142,9792704,9585408,9565615,9512475,9373149,8945469,8125298,16015337 10952 NM_006808,AL137067,CH471105,AJ293399,AK223384,BC001734,CR456883,CR542159,L25085 NP_006799,CAC08000,EAW58912,BAD97104,AAH01734,CAG33164,CAG46956,AAA19706,P60468,Q53FA5 Hs.191887 GDB:9958639 protein-coding 1314869 SEC61G Sec61 gamma subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. 16381901,15489336,15489334,12477932,11076863,11042152,10212142,9565615,8945469,8107851 23480 AF086539,BC009480,BC051840,BU932672,CD385140,CR456979,NM_014302,NM_001012456,AC074351,CH236957,CH471201,AF054184 AAC99401,AAH09480,AAH51840,CAG33260,P60059,Q0JT80,CAL38284,NP_055117,NP_001012474,EAW50960,EAW50961 Hs.488282 GDB:9956618 SSS1 protein-coding 1318878 SEC62 SEC62 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. 1580863 9020021,17081983,16713569,16547154,15489334,14702039,12477932,10799540,10683767 7095 NM_003262,AB024586,AC008040,CH471052,AK025548,AK057365,BC003677,BC007040,BC012035,BC089399,BC105971,BX475495,BX537668,BX648539,CR596837,CR618317,D87127,U93239 NP_003253,BAB12685,EAW78527,EAW78528,EAW78529,EAW78530,EAW78531,EAW78532,EAW78533,BAB71453,AAH03677,AAH12035,AAI05972,BAA13254,AAB51391,Q3KR08,Q96M58,Q99442 Hs.592561 GDB:9836803 Dtrp1|FLJ32803|HTP1|TLOC1|TP-1 protein-coding 1312738 SEC63 SEC63 homolog (S. cerevisiae) The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. 1580863 10799540,17456004,16835903,16303743,15489334,15133510,14702039,12477932,11023840,10543453,10219736,17353931 11231 AL024507,CH471051,AF100141,AF119883,AI559292,AJ011779,AJ420532,AK001465,AK027374,AK074835,AL137338,BC001153,BC009066,BC023598,BC047221,BC048287,NM_007214,BE972247,BM764168,X75689 NP_009145,CAI19745,EAW48392,AAC83375,AAF69637,CAB46275,CAB70701,AAH23598,AAH47221,AAH48287,Q9P164,Q9UGP8 Hs.529957 ERdj2|PRO2507|SEC63L protein-coding 1343356 SECISBP2 SECIS binding protein 2 The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. 1580863 16962588,17846120,16782878,16381901,16228000,15489336,15489334,14702039,12477932,12403468,12095701,11230166,11118223,11076863,10637234,8889548,16189514 79048 NM_024077,AL160054,AL929575,BX000356,CH471089,AF380995,AK023078,AK090608,AK290182,AL136881,BC001189,BC023142,BC036109,BC099900,BM666620,BX648787,DR002073,AB208940 NP_076982,CAI95792,CAI95793,CAI41354,CAI41358,CAI95386,CAI95387,EAW62763,EAW62764,AAK57518,BAB14393,BAF82871,CAB66815,AAH01189,AAH23142,AAH36109,AAH99900,CAH10382,Q4V370,Q59H19,Q5HYY1,Q5HYY5,Q6AW84,Q7L1Z0,Q96T21,CAL38577,Q9BVI5,Q9H0A1,Q9H948,BAD92177,CAL37690 Hs.59804 DKFZp686C09169|SBP2 protein-coding 1314321 SECTM1 secreted and transmembrane 1 This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. 1302741,1580863 9480746,12761501,16344560,15489334,12477932,10652336,9373149,8125298 1302741 6398 NM_003004,AC132872,CH471099,AK223068,AK223104,AK290708,BC017716,BI861812,CR591775,CR594118,CR594943,CR595956,CR606594,CR614987,CR620624,CR625551,DA589733,U77643 NP_002995,EAW89766,BAD96788,BAD96824,BAF83397,AAH17716,AAC52044,Q53G27,Q53G63,Q8WVN6 Hs.558009 GDB:9315111 K12 protein-coding 1351912 SEDLP spondyloepiphyseal dysplasia, late, pseudogene This gene has been described as a transcribed retropseudogene (or retro-xaptonuon) based on its structure which lacks most of the introns of SEDL and the detection of transcripts from this locus. Most retropseudogenes are thought to not express protein products. A protein product could potentially be encoded by this retropseudogene that would be identical to the protein product of the SEDL gene. However, it remains unclear whether this gene encodes a protein product or is a transcribed retropseudogene. 14597397,12939648,12935876,12700240,12477932,11181995,11134351,11031107,16189514 10597 NR_002166,CH471135,AF058918,AF291676,BC008889,BC032809,BF984818,BU556832,CR456859 EAW72495,EAW72496,CAG33140 Hs.446620 GDB:9957701 MIP-2A|SEDLP1 pseudo 1347454 SEDLP2 spondyloepiphyseal dysplasia, late, pseudogene 2 11031107 27196 NG_005354,AC099805 GDB:10013960 pseudo 1349223 SEDLP3 spondyloepiphyseal dysplasia, late, pseudogene 3 11031107,9847074 27195 NG_004636,AC007742 GDB:10013962 pseudo 1352504 SEDLP4 spondyloepiphyseal dysplasia, late, pseudogene 4 11031107,9847074 27194 NG_004755,AC007965 GDB:10013963 pseudo 1343827 SEDLP5 spondyloepiphyseal dysplasia, late, pseudogene 5 11031107,9847074 27193 NG_004755,AC010682 GDB:10013964 pseudo 1351792 SEDLP6 spondyloepiphyseal dysplasia, late, pseudogene 6 11031107 27192 AC009235 GDB:10013965 1601872 SEDLP7 spondyloepiphyseal dysplasia, late, pseudogene 7 11031107,9847074 27191 AC084354 GDB:10013966 pseudo 1352568 SEH1L SEH1-like (S. cerevisiae) The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 12228227,15489334,15146057,14702039,14517296,12477932,12196509 81929 NM_031216,NM_001013437,AP002449,CH471113,AF136976,AF255625,AF431970,AF514996,AK056940,AK291226,BC012430,BX538037,CB990796,CR603544,CR620641 NP_112493,NP_001013455,EAX01530,EAX01531,AAG49437,AAM21169,AAM44214,AAM76707,BAB71317,BAF83915,AAH12430,Q96EE3 Hs.301048 SEC13L|SEH1A|SEH1B|Seh1 protein-coding 1351070 SEL1L sel-1 suppressor of lin-12-like (C. elegans) 1580863 18314878,18264092,17967421,16412574,16331889,16331677,16303743,16186509,14729273,12975309,12754519,12553058,12477932,12030374,11809711,11544613,11349831,10746565,10496078,10051412,9858735,9417916 6400 NM_005065,AB024763,AF157516,AF198647,AL121769,AL136039,CH471061,AB020335,AF052059,AK075511,AY358651,BC040498,BC054336,CR613747,U11037 NP_005056,BAA89204,AAF24176,AAL40905,EAW81344,BAA87904,AAF29413,AAQ89014,AAH40498,AAB52516,Q12916,Q3ZCU6,Q9UBV2 Hs.181300 GDB:6054478 IBD2|PRO1063|SEL1-LIKE protein-coding 1322649 SEL1L2 sel-1 suppressor of lin-12-like 2 (C. elegans) 12477932 80343 NM_025229,AL109657,AL117333,AL354683,AL137678,BC035741,DC398207 NP_079505,Q5TEA5,Q5TEA6 Hs.590879 GDB:11505001 C20orf50|DJ842G6.2|DKFZp434C1826|FLJ22324|dJ631M13.1 chromosome 20 open reading frame 50 protein-coding 736831 SELE selectin E (endothelial adhesion molecule 1) The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. 1580039,1580040,1580041,1580863,1625253 15013273,15009098,14988223,14984317,14763917,14734737,14714557,14691583,14607629,14592840,14592723,14587643,14568956,14557872,14534081,12960351,12940514,12898464,12871600,12820726,12792758,12788528,12768436,12738381,12698264,12673844,12649084,12626663,12595908,12522014,12499405,12477932,12421968,12388172,12200386,12200076,12186696,12175121,12172576,12172318,12165498,12086338,12082592,12082590,12036529,12027924,12020443,12011765,11983205,11981814,11948013,11936588,11935152,11929779,11882338,11882337,17372905,17167725,17143564,17142773,17057786,17036337,17020471,17014013,16982492,16980970,16974056,16963035,16916660,16908800,16892455,16843446,16820586,16773720,16756647,16710414,16565092,16554320,16544732,16501492,16433632,16426244,16344560,16269612,16080806,16061120,16002039,15979159,15917220,15871853,15833936,15784173,15736116,15666579,15593054,15584003,15560890,15515123,15488708,15387376,15331359,15308783,15304054,15299021,15254658,15187162,15179350,15167972,15148373,15086468,15083893,15080580,15076188,15076187,11859093,11847011,11828340,11827962,11776680,11764211,11714857,11697721,11602579,11575218,11575217,11466561,11404363,11402070,11359462,11341749,11168027,11097335,10982036,10477700,10419878,10391210,9933738,9920928,9597096,2466335,18217430,18212564,18197885,18191640,18182036,18094708,18029551,18020971,17963163,17956423,17954174,17939599,17875185,17684030,17578587,17563404,17452460,17392035,17389327,9269771,9128259,9024699,8621728,8609175,8557254,7694691,7693046,7681016,7541576,7538217,7536194,7533025,7523444,7509040,1703529,1701274,1694218,1689848,1375831,15194470,15735663 1580039,1580040,1580041,1625253 6401 NM_000450,AF540378,AL021940,CH471067,M61892,M61893,AY367062,BC131551,BC142677,BC142711,DB209354,M24736,M30640 NP_000441,AAN01237,CAA17434,CAI19357,CAI19358,CAI19359,CAI19360,EAW90860,AAA52375,AAQ67702,AAI31552,AAI42678,AAI42712,AAA52376,AAA52377,P16581,Q5TI75,Q6ULR7 Hs.89546 GDB:120612 CD62E|ELAM|ELAM1|ESEL|LECAM2 protein-coding 733754 SELENBP1 selenium binding protein 1 This gene product belongs to the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. It has been proposed that the effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins. The exact function of this gene is not known. 1580863 8453708,8157642,1602151,1553752,1540595,9027582,16645984,16380993,16189514,16169070,15108003,14702039,12477932,10799528 8991 NM_003944,AL391069,CH471121,AK023875,BC009084,BC032997,CR456852,CR593016,CR594197,CR598460,CR599193,CR600816,CR600884,CR603742,CR606071,CR609192,CR610604,CR612007,CR614768,CR616811,CR620090,CR623419,CR625435,CR625298,U29091 NP_003935,CAH70328,EAW53443,EAW53444,EAW53445,BAB14709,AAH09084,AAH32997,CAG33133,AAB02395,Q13228,Q49AQ8,Q9H8A8,ABM81657 Hs.632460 GDB:9958042 FLJ13813|LPSB|SP56|hSBP|hSP56 protein-coding 1604559 SELI selenoprotein I This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 17132865,16344560,16189514,14702039,12775843,12477932,11214970 85465 NM_033505,AC010896,CH471053,AB051511,AK023242,AK091340,AK092710,AK095620,BC021229,BE963795,BF669898,BK001426,DA619246,DA905145,EH350337 NP_277040,AAY14646,EAX00690,EAX00691,EAX00692,EAX00693,BAB21815,AAH21229,DAA01514,Q8WU57,Q9C0D9 Hs.189073 KIAA1724 protein-coding 1603383 SELK selenoprotein K This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is localized to the endoplasmic reticulum and is highly expressed in the heart, where it may function as an antioxidant. 16962588,15489334,14702039,12775843,12477932,11042152 58515 NM_021237,AC012467,CH471055,AF085359,AF161415,AF537132,AK123406,AK289594,BC013162,BM762385,CR606377 NP_067060,EAW65301,AAD40194,AAF28975,AAN61473,BAF82283,AAH13162,Q9Y6D0 Hs.58471,Hs.640242 HSPC030|HSPC297|MGC17057 protein-coding 1342543 SELL selectin L (lymphocyte adhesion molecule 1) SELL is a cell surface component that is a member of a family of adhesion/homing receptors which play important roles in leukocyte-endothelial cell interactions. The molecule is composed of multiple domains: one homologous to lectins, one to epidermal growth factor, and two to the consensus repeat units found in C3/C4 binding proteins. 1580863 10747985,1692315,12588680,10882119,18191640,18182036,18089680,18032547,18028430,17954174,17890399,17765649,17698668,17525255,17465998,17407075,17056762,17028146,16982492,16974056,16916660,16740600,16738933,16690519,16585636,16565092,16357481,16352650,16335952,16270299,15831305,15776384,15506984,15470072,15192100,15178693,15093751,14737745,14615387,14597772,14592723,14585903,14576059,14533031,12918706,12874338,12871600,12844406,12738381,12736247,12609846,12595908,12532021,12496379,12477932,12431911,12370391,12202158,12200386,12200076,12186696,12165498,12147693,12144128,12063026,12042326,12036888,11907045,11828340,11821431,11466384,11064106,9373149,8125298,7488174,2664786,2663882,2509939,2473156,1717161,1376638,1375831,10449768,12889478,15249540,11706008,10725346,9024699,9625756,9538010,10377245,8986819,7539755 6402 NM_000655,AL021940,AY233976,CH471067,M32406,M32407,M32408,M32409,M32410,M32411,M32412,M32413,M32414,AI253539,AJ246000,AK225713,AY367061,BC020758,DB482055,M25280,X16070,X16150,X17519 NP_000646,CAI19356,AAO48272,EAW90855,EAW90856,EAW90857,EAW90858,EAW90859,AAB60700,CAB55488,AAQ67701,AAH20758,AAC63053,CAA34203,CAA34275,CAB43536,CAB43537,P14151,Q6ULR8,Q8WW79,Q9UJ43,ABM82302,ABM85480 Hs.82848 GDB:120157 CD62L|LAM-1|LAM1|LECAM1|LNHR|LSEL|LYAM1|Leu-8|Lyam-1|PLNHR|TQ1|hLHRc protein-coding 1603181 SELM selenoprotein M This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This gene is expressed in a variety of tissues, and the protein is localized to the perinuclear structures. 15489334,12477932,11839807 140606 NM_080430,AC005005,CH471095,AY043487,BC013421,BC030236,BC042299,BC053846,BC068004 NP_536355,EAW59934,EAW59935,AAK95397,AAH13421,AAH30236,AAH68004,Q8WWX9 Hs.55940 MGC40146|SEPM protein-coding 1605929 SELO selenoprotein O This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 15489334,15461802,12775843,12477932,10591208 83642 CH471138,AF274946,AY324823,BC001099,BC020510,BC032384,BC051758,BC110866,CR456464,CR611149,CR615532,NM_031454,AL022328 EAW73504,EAW73505,EAW73506,AAK07523,AAP85540,AAH01099,AAH20510,AAI10867,CAG30350,Q6ICA4,Q9BVL4,Q9BZU0,NP_113642 Hs.365405 MGC131879 protein-coding 737162 SELP selectin P (granule membrane protein 140kDa, antigen CD62) This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. 1580074,1580075,1599904,1580863,729766 9129046,11237770,15633604,2466574,1701178,15297306,1377048,18449419,18390200,18363816,18333373,18217430,18191640,18182036,18050247,18034324,17982310,17944986,17939599,17890399,17849054,17710630,17702963,17700216,17698171,17634906,17598012,17597069,17554801,17510305,17509958,17498578,17488661,17473568,17437524,17420019,17393020,17279322,17275499,17204688,17143564,17126824,17074110,17027652,16982492,16973503,16877367,16860607,16764881,16683915,16648968,16636497,16633357,16352650,16344560,16332977,16263699,16257118,16184405,16139336,16125711,16100264,16014051,15916851,15769472,15705928,15583743,15543334,15497463,15353601,15351857,15316595,15299021,15297307,15231569,15221968,15217824,15133030,15080580,15059609,15059608,16935700,15026421,14764537,14681304,14680834,14676308,14630802,14615387,14592723,14568956,14557872,12945872,12911583,12888879,12871600,12871503,12860908,12858167,12847232,12783114,12757775,12736150,12477932,12468916,12384485,12200386,12165563,12082590,12036880,12036879,11981814,11936588,11885026,11861803,11597943,11247301,11081633,11040019,10950950,10733515,10713099,10499919,10391209,9668170,9128259,8901515,7693674,7684381,7508745,7505680,2472431,1717161,1705568,1694218,1375831,15972662 1580074,1580075,1599904,729766 6403 AY367063,BC028067,BC068533,DA926598,DA994564,M25322,AF542391,AL022146,CH471067,L01574,M60222,M60234,Z99572,NM_003005 CAI23064,AAQ67703,AAH28067,AAH68533,AAA35911,P16109,Q5TI44,Q5TI45,Q5TI49,Q6NUL9,Q6ULR6,Q8N1E9,NP_002996,AAN06828,CAI22751,CAI22752,CAI22753,CAI22754,CAI22755,CAI22756,CAI22757,CAI22758,EAW90850,EAW90851,EAW90852,EAW90853,EAW90854,AAC31762,AAA35910,CAI23057,CAI23058,CAI23059,CAI23060,CAI23061,CAI23062,CAI23063 Hs.73800 GDB:120018 CD62|CD62P|FLJ45155|GMP140|GRMP|LECAM3|PADGEM|PSEL protein-coding 1317472 SELPLG selectin P ligand SELPLG is the high affinity counter-receptor for P-selectin on myeloid cells and stimulated T lymphocytes. As such, it plays a critical role in the tethering of these cells to activated platelets or endothelia expressing P-selectin. The organization of the SELPG gene closely resembles that of CD43 and the human platelet glycoprotein GpIb-alpha both of which have an intron in the 5-prime-noncoding region, a long second exon containing the complete coding region, and TATA-less promoters. 1580863 15926890,15925831,15843584,15522894,15497463,15489334,15488708,15466853,15459589,15386532,15217824,15187162,15059608,15026421,15001428,14702039,14678816,14641238,14615387,14592840,14507929,12879153,12874338,12736689,12736247,12595306,12529243,12477932,12393521,16039046,12387735,12377939,12354382,16024226,12223514,12189248,12115638,12036880,11961238,11929779,11916843,11843835,11520793,10807781,10770806,10725346,10713099,10599889,9804815,9414280,9373149,9353122,9128259,8839831,8621728,8125298,7585950,7585949,7559387,7541799,7521878,16189514,10834846,7505206,18182036,17947642,17910894,17890399,17827388,17597069,17545190,17510705,17420019,17372146,17346310,17322099,17221329,17181632,16633357,16547281,16501095,16269612,16257118,16100264,15060624 6404 NM_003006,AC007569,AC008119,AY331789,CH471054,CQ785370,U25956,AK098315,AK127638,AK225644,AK290395,BC029782,CA427270,U02297 NP_002997,AAP81163,EAW97824,EAW97825,CAG14915,AAA74577,BAC05283,BAC87066,BAF83084,AAH29782,AAC50061,Q14242,Q6ZS88,ABM83043,ABM86239 Hs.591014 GDB:273698 CD162|CLA|PSGL-1|PSGL1 protein-coding 1601754 SELS selenoprotein S This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies suggest that this protein may regulate cytokine production, and thus play a key role in the control of the inflammatory response. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 16186509,15489334,15161744,14702039,12775843,12663463,12477932,12031974,10931946,9373149,8889548,8125298,7829101,15063746,15215856,17210132,17374524,18068137,17880573,17661913,17641917,16574427,16227999,16186510 55829 BQ014190,BU740863,CR595854,CR599218,NM_203472,NM_018445,AC023024,CH471101,AA487772,AF157317,AF328864,AI673590,AK026455,AK097011,AK225955,AY324824,AY618665,BC005840,BC107774,BG829960,BI494034 Q6GYA4,Q9BQE4,NP_982298,NP_060915,EAX02295,AAF67483,AAK15708,AAP85541,AAT46592,AAH05840,AAI07775 Hs.32148 AD-015|ADO15|MGC104346|MGC2553|SBBI8|SEPS1|VIMP protein-coding 1602000 SELT selenoprotein T This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 10567350,16303743,15489334,12975309,12775843,12477932,9110174,8619474 51714 NM_016275,AC069236,CH471052,AF131856,AF195141,AK075006,AY358095,AY358096,BC006012,BC008411,BC009556,BC009611,BC026350,BC036738,BC071699,BE221894,CD707391,CR457154,CR606500,CR607479,CR624661 P62341,Q6IAK0,NP_057359,EAW78827,EAW78828,EAW78829,AAD20063,AAF13696,AAQ88462,AAQ88463,AAH06012,AAH08411,AAH09556,AAH09611,AAH26350,AAH36738,AAH71699,CAG33435 Hs.369052 protein-coding 1603489 SELV selenoprotein V This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 15489334,12775843,12477932 348303 P59797 NM_182704,AC011500,CH471126,AY324825,BC117331 NP_874363,EAW56907,AAP85542,AAI17332,P59797 Hs.319284 protein-coding 730921 SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. 1580863 15485501,15080899,14656993,14500350,12879061,12853948,12730958,12690205,12610647,12456642,10520994,10196546,9331348,8889548,7748561,15550623,15517571,8269517,18272814,18160633,18056484,17989695,17684500,17631638,17607942,17569671,17390026,17369353,16791896,16684957,16672672,16424390,16380453,16330548,16085543,15831706 10371 NM_006080,AC004451,AC004848,AC006322,AC073221,CH236949,CH471091,CS067216,AK289954,BC111416,BM723807,BU186364,BX491494,CR748125,DR002146,L26081 NP_006071,AAS00353,AAC78622,AAS02028,AAP22350,EAL24185,CAI84571,BAF82643,AAI11417,AAA65938,Q14563,Q75MQ2,Q86UJ2,EAW76982 Hs.252451 GDB:283448 Hsema-I|Hsema-III|MGC133243|SEMA1|SEMAD|SEMAIII|SEMAL|SemD|coll-1 protein-coding 1320778 SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B The semaphorin/collapsin family of molecules plays a critical role in the guidance of growth cones during neuronal development. The secreted protein encoded by this gene family member is important in axonal guidance and has been shown to act as a tumor suppressor by inducing apoptosis. 1580863 8633026,17452250,15831529,15489334,15273288,14702039,12810670,12477932,11922394,11809707,11717452,11085536,10196546,8603390,7748561,16189514 7869 NM_004636,NM_001005914,CH471055,CS067218,U73167,AB083186,AB209322,AF217991,AK092182,AK098329,BC009113,BC013975,BC024220,BC044602,BI603095,U28369 NP_004627,NP_001005914,EAW65062,EAW65063,EAW65064,EAW65065,EAW65066,EAW65067,CAI84572,AAC02731,BAB88870,BAD92559,AAG17234,BAC03823,AAH09113,AAH13975,AAH24220,AAH44602,AAD09138,Q13214,Q59FY7,Q6PI51,Q8NAS4,Q9HBR1 Hs.82222 GDB:6165876 FLJ34863|LUCA-1|SEMA5|SEMAA|SemA|semaV protein-coding 1319638 SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 1580084,1580085,1580863 9168980,9405678,15609325,17390026,15489334,15077297,12853948,12730958,12690205,12477932,12174914,9331348,8889548,7829101,7748561 1580084,1580085 10512 NM_006379,AC004880,AC073850,AC093683,CH236949,CH471091,CS067220,AB000220,AF086506,AL135601,BC030690,BF983184,BI494187,BU740462,D32000 NP_006370,AAS00351,AAS07489,EAL24190,EAW76995,CAI84573,BAA32398,AAH30690,Q75L25,Q75MX0,Q99985,ABM81773,ABM84927 Hs.269109 GDB:9957516 SEMAE|SemE protein-coding 1348225 SEMA3D sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 1580863 15489334,15329371,12975309,12853948,12690205,12477932 223117 NM_152754,AC004957,CH236949,CH471091,AY358937,BC029590,BX648652 NP_689967,EAL24184,EAW76974,EAW76975,EAW76976,EAW76977,AAQ89296,AAH29590,O95025,ABM82491,ABM85679 Hs.201340 GDB:9957513 MGC39708|Sema-Z2|coll-2 protein-coding 1322177 SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E Semaphorins, such as SEMA3E, are characterized by a conserved domain of about 500 amino acids. These proteins are involved in embryonic development, and some behave as neural guidance molecules.[supplied by OMIM] 1580095,1580863 9515811,15386596,15235037,12853948,12690205,9205841 1580095 9723 NM_012431,AC004954,AC006204,AC079799,AC079987,CH236949,CH471091,CS067222,AB002329,BC152458 NP_036563,AAC69513,AAS07488,AAS07487,EAL24186,EAW76983,CAI84574,BAA20789,AAI52459,O15041 Hs.528721 GDB:9785606 KIAA0331|M-SEMAH|M-SemaK|SEMAH|coll-5 protein-coding 1318327 SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F The semaphorins are a family of proteins that are involved in signaling. All the family members have a secretion signal, a 500-amino acid sema domain, and 16 conserved cysteine residues (Kolodkin et al., 1993 [PubMed 8269517]). Sequence comparisons have grouped the secreted semaphorins into 3 general classes, all of which also have an immunoglobulin domain. The semaphorin III family, consisting of human semaphorin III (SEMA3A; MIM 603961), chicken collapsin, and mouse semaphorins A, D, and E, all have a basic domain at the C terminus. Chicken collapsin contributes to path finding by axons during development by inhibiting extension of growth cones (Luo et al., 1993 [PubMed 8402908]) through an interaction with a collapsin response mediator protein of relative molecular mass 62K (CRMP62) (Goshima et al., 1995 [PubMed 7637782]), a putative homolog of an axonal guidance associated UNC33 gene product (MIM 601168). SEMA3F is a secreted member of the semaphorin III family.[supplied by OMIM] 1580863 8786119,17693432,17569671,17308083,15967098,15862967,15520858,15489334,12845630,12659673,12477932,10702410,10095013,9883722,8889548,8649831,8633026,8402908,8269517,7637782,7566098,15550623 6405 AC000063,AC104450,CH471055,AA378582,AB209259,BC042914,CB240860,U32171,U32172,U33920,U38276,NM_004186 NP_004177,AAB46344,EAW65043,EAW65044,EAW65045,EAW65046,BAD92496,AAH42914,AAB06011,AAB06012,AAC50568,AAB18276,Q13275,Q59G50 Hs.32981 GDB:700760 SEMA-IV|SEMA4|SEMAK|sema IV protein-coding 1601989 SEMA3G sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 15489334,14702039,12477932,11214971 56920 NM_020163,AC006208,CH471055,AB029496,AK024425,BC098104,BC098137,BC099724 NP_064548,EAW65225,BAA98132,BAB15715,AAH98104,AAH98137,AAH99724,Q9NS98 Hs.59729 FLJ00014|MGC119473|sem2 protein-coding 1312188 SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A SEMA4A is a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in guidance of axonal migration during neuronal development and in immune responses.[supplied by OMIM] 737633,1580863 16199541,15489334,12906260,14702039,12975309,12893810,12563299,12477932,12374982,7748561,16189514 737633 64218 CH471121,AB029394,AK022349,AK022416,AK091127,AK290353,AY358531,BC020974,BX640891,CR623694,NM_022367,AL135927 CAI15532,CAI15533,EAW52992,EAW52993,EAW52994,EAW52995,BAB20087,BAB14018,BAF83042,AAQ88895,AAH20974,CAE45942,Q5TCI5,Q5TCI6,Q5TCJ5,Q5TCJ6,Q5TCJ7,Q6MZT6,Q9H3S1,Q9HA40,NP_071762,CAI15528,CAI15529,CAI15530,CAI15531 Hs.408846 GDB:9957512 CORD10|FLJ12287|RP11-54H19.2|RP35|SEMAB|SEMB protein-coding 1317317 SEMA4B sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B 1580863 17081983,16335952,15489334,15340161,14702039,12975309,12477932,12123608,11214970,7748561 10509 NM_020210,NM_198925,AC091167,CH471101,AB051532,AF258561,AK026108,AK026133,AK027083,AK289991,AL390080,AL390082,AY358392,AY445887,BC010701,BC017658,BC019013,BC094849,BC110853,BC126438,BX537671,CD109794,CR605527,AL390081 NP_064595,NP_945119,EAX02084,EAX02085,EAX02086,BAB21836,AAG23764,BAB15372,BAF82680,CAB98204,CAB98205,CAB98206,AAQ88758,AAR15707,AAH10701,AAH17658,AAH94849,AAI10854,AAI26439,CAD97806,Q2NL81,Q4VBY2,Q7Z3N1,Q8WY86,Q9NPR2 Hs.474935 GDB:9957506 KIAA1745|MGC131831|SEMAC|SemC protein-coding 1354487 SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 1580863 15489334,12975309,12477932,11214970,11162505,11134026,10318831,9464278,7656991 54910 NM_017789,AC092636,CH471207,AB051526,AF258577,AF370374,AK000376,AK075388,AK126512,AY358842,BC017476,BC062984,BC109103,BC109104,BI518922 NP_060259,AAY14967,EAW71325,EAW71326,EAW71327,BAB21830,AAG23780,AAQ15210,BAA91124,BAC11588,AAQ89201,AAH17476,AAH62984,AAI09104,AAI09105,Q53RE7,Q6P5A5,Q71RG3,Q8NBN9,Q8WY71,Q9C0C4,Q9NX92 Hs.516220 GDB:9957502 FLJ20369|KIAA1739|M-SEMA-F|MGC126382|MGC126383|SEMACL1|SEMAF|SEMAI protein-coding 1321523 SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 1580863 15613544,11254688,8876214,18025083,17520683,17244710,17081983,16754882,16263699,16055703,15632204,15489334,14707103,12958590,12882840,12539042,12477932,12406905,11937491,11254687,11114375,10520995,8969198,8955171,1530858 10507 NM_006378,AL590233,AL929575,AB210030,BC054500,BX648216,U60800 NP_006369,CAI17379,BAE06112,AAH54500,AAC50810,Q4LE41,Q92854 Hs.655281 GDB:9957498 CD100|M-sema-G|SEMAJ|coll-4 protein-coding 1345838 SEMA4E sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4E 10506 GDB:9957492 735857 SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 69991,1580863 10051670,11256614,16381901,16303743,15815621,15489336,15489334,12477932,11901358,11483650,11230166,11076863,9856463 69991 10505 NM_004263,AC007387,CH471053,CS051179,AB021292,AB022317,AF053369,AK075384,AK291023,AL136552,BC018361,BC038411 NP_004254,EAW99605,EAW99606,EAW99607,EAW99608,CAI72085,BAA75631,AAF80660,BAC11584,BAF83712,CAB66487,AAH18361,AAH38411,O95754,Q0JSA4,Q542Y7,Q9P169,CAL38610,ABM86603 Hs.25887 GDB:9957489 M-SEMA|PRO2353|SEMAM|SEMAW|m-Sema-M semaphorin 4f protein-coding 1321336 SEMA4G sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene and the gene for mitochondrial ribosomal protein L43 overlap at map location 10q24.31 and are transcribed in opposite directions. 1580863 16189514,15489334,15164054,12593985,12477932,12471249,12432760,10997877 57715 NM_017893,AL133215,CH471066,AB046839,AK000597,AW161452,BC020960,BC051030,BC053507,BC110382,BC128579 NP_060363,CAB92805,CAI10916,EAW49801,EAW49802,EAW49803,EAW49804,BAB13445,BAA91278,AAH20960,AAH51030,AAI10383,AAI28580,Q9NTN9,Q9NWU8 Hs.591923 GDB:9957486 FLJ20590|KIAA1619|MGC102867 protein-coding 1318544 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A Members of the semaphorin protein family, such as SEMA5A, are involved in axonal guidance during neural development (Adams et al., 1996 [PubMed 8817451]).[supplied by OMIM] 1580101,1580863 16344560,16252231,15489334,15372022,15302935,15218527,14702039,12477932,8889548,8817451,9049630,9464278,17028446,16481103 1580101 9037 NM_003966,AC004615,AC021088,AC022446,AC027335,AC027336,AC034214,AC091906,CH471102,AF009314,AF056434,AK022877,BC115696,BM669539,CR617973,CX788776,DA336109,U52840 NP_003957,AAC14668,EAX08078,EAX08079,AAI15697,AAC09473,Q13591 Hs.27621 GDB:9954795 FLJ12815|SEMAF|semF protein-coding 1318955 SEMA5B sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B Members of the semaphorin protein family, such as SEMA5B, are involved in axonal guidance during neural development (Adams et al., 1996 [PubMed 8817451]).[supplied by OMIM] 1580863 16344560,14702039,12975309,12477932,10819331,8817451 54437 NM_001031702,AC078794,AC083797,AC109130,CH471052,AB040878,AK001234,AK091481,AK291407,AY358124,BC002776,BC077726,CR593104,DA797213 NP_001026872,EAW79457,EAW79458,BAA95969,BAA91570,BAF84096,AAQ88491,AAH77726,Q9P283 Hs.210870 GDB:9958869 FLJ10372|KIAA1445|SEMAG|SemG protein-coding 1313551 SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 1302316,1580863 10993894,18187809,17671748,16436660,16303743,14702039,12477932,12421765,10718198,9204478 1302316 57556 AF279656,AK027439,AK027471,AK027501,AK027505,AK027654,AK027867,AK074975,AK096337,BC032619,CX164544,NM_020796,AC008524,AC010296,AC027304,CH471086,AB037789,AF225425 AAG09727,AAG29378,BAB55111,BAB55136,BAB55158,BAB55269,BAB55418,BAC11326,Q5U635,Q8NC49,Q96JU9,Q96SM8,Q96SW4,Q96SY4,Q96T04,Q9H2E6,Q9HBL2,AAI56174,NP_065847,EAW48934,EAW48935,EAW48936,EAW48937,EAW48938,BAA92606 Hs.156967 GDB:9957481 HT018|KIAA1368|SEMA|SEMA6A1|SEMAQ|VIA|sema VIa protein-coding 731900 SEMA6B sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. 1580863 15340161,15177567,12975309,11350127 10501 NM_032108,AC011498,CH471139,AB022433,AB209278,AF216389,AF293363,AV701490,AY358939,BC142617,CR591947 NP_115484,EAW69206,EAW69207,EAW69208,EAW69209,EAW69210,BAB20669,BAD92515,AAF87661,AAK16831,AAQ89298,AAI42618,Q59G31,Q9BXR8,Q9H3T3 Hs.465642 GDB:9958725 SEM-SEMA-Y|SEMA-VIB|SEMAN|semaZ protein-coding 732717 SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C This gene product is a member of the semaphorin family of proteins. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. 633916,1580863 12110693,11347906,11245885,9110174,8619474,16710414,12878157,12477932 633916 10500 NM_030913,AL592424,CH471121,AB022434,AB058772,AF055020,AF339152,AF339153,AF339154,AL122064,AU279414,BC114521,BC114623,BE253393 NP_112175,CAI16376,CAI16377,CAI16378,EAW53469,EAW53470,EAW53471,EAW53472,BAB20670,BAB47498,AAC09365,AAL72098,AAL72099,AAL72100,CAB59243,AAI14522,AAI14624,O60650,Q1RMY5,Q24JR3,Q5JR72,Q5JR73,Q9H3T2,Q9UFI1 Hs.516316 GDB:9957478 SEMAY|m-SemaY|m-SemaY2 semaphorin 6c protein-coding 1605040 SEMA6D sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Six transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. 14977921,14702039,12477932,12110693,11842242,10819331 80031 AF389427,AF389428,NM_153618,NM_153617,NM_153619,NM_153616,NM_024966,AC018900,AC044787,CH471082,CS000930,AB040912,AF389426,NM_020858,AF389429,AF389430,AK021660,AK022747,AK022831,AK290032,BC004330,BC150253 AAM69450,NP_065909,NP_705871,NP_705870,NP_705872,NP_705869,NP_079242,EAW77332,EAW77333,CAI48006,BAA96003,AAM69449,AAM69451,AAM69452,AAM69453,BAB13869,BAB14221,BAB14264,BAF82721,AAI50254,Q8NFY4,Q9H9G5,Q9H9K4,Q9HAH9 Hs.511265 FLJ11598|KIAA1479 protein-coding 1313074 SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) SEMA7A is a membrane-bound semaphorin that associates with cell surfaces via a glycosylphosphatidylinositol (GPI) linkage. SEMA7A is also known as the John-Milton-Hagen (JMH) blood group antigen, an 80-kD glycoprotein expressed on activated lymphocytes and erythrocytes.[supplied by OMIM] 1580863 9721204,17671519,16372136,16199891,15907379,15489334,14702039,12477932,12193228,10885563,10520995,10416131,10201933,9712866 8482 AC012435,AC090826,AF030697,AY885237,CH471136,AF030698,AF069493,AF071542,AK001895,AM180445,AM180446,AM180447,NM_003612,AM180448,AM180449,AM180450,AM180451,BC101643,BC101647 NP_003603,AAC34741,AAW62253,EAW99340,AAC34261,AAC82642,AAC80456,CAJ55398,CAJ55399,CAJ55400,CAJ55401,CAJ55402,CAJ55403,CAJ55404,AAI01644,AAI01648,O75326,Q1XE81,Q1XE82,Q1XE83,Q1XE84 Hs.24640 GDB:9955248 CD108|CDw108|H-SEMA-K1|H-Sema K1|H-Sema-L|JMH|MGC126692|MGC126696|SEMAK1|SEMAL sema domain, immunoglobulin domain (ig), and gpi membrane anchor, (semaphorin) 7a protein-coding 1349203 SEMG1 semenogelin I The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. The prostate-specific antigen (PSA) protease processes this protein into smaller peptides, with each possibly having a separate function. The proteolysis process breaks down the gel matrix and allows the spermatozoa to move more freely. Two transcript variants encoding different isoforms have been found for this gene. 1580863 2912989,1517240,17683036,17680810,17624925,16713569,16582407,15962837,15930278,15590901,15563730,15489334,14629036,14613901,14581514,14562960,12771235,12477932,12399526,12200457,11870067,11784334,11780052,11027412,10412373,10411640,9523691,9092810,8833737,8665951,8654389,8444163,6698208,6484484,6422553,3972122,3889920,2757795 6406 NM_003007,NM_198139,AL049767,AY174423,AY174424,AY174437,AY174446,AY174447,AY174448,AY256465,AY256466,AY256467,AY256468,AY256469,CH471077,M81650,Z47556,BC005229,BC007096,BC011442,BC055416,BT007177,J04440 NP_002998,NP_937782,CAB53523,AAO20112,AAO20113,AAO20126,AAO20127,AAO20128,AAO20129,AAP82462,AAP82463,AAP82464,AAP82465,AAP82466,EAW75871,EAW75872,AAA18168,CAA87636,AAH05229,AAH07096,AAH55416,AAP35841,AAB59506,P04279,Q53ZV0,Q53ZV1,Q53ZV2,Q6Y806,Q6Y808 Hs.1968 GDB:128167 MGC14719|SEMG|SGI protein-coding 1345967 SEMG2 semenogelin II The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. 1580863 8665951,8654389,2757795,1584792,1517240,17683036,15563730,15531881,14629036,14581514,12477932,12399526,12200457,11784334,11780052,11027412,10411640,9523691,9128720,8833737,8665956 6407 AL049767,AY259284,AY259285,AY259286,CH471077,M81651,Z47556,AK291811,BC005262,BC056675,BC070306,M81652,NM_003008 NP_002999,CAB53522,AAP86625,AAP86626,AAP86627,EAW75870,AAA60313,CAA87637,BAF84500,AAH05262,AAH70306,AAA60562,Q02383,Q53ZU2,Q6IRW3,Q6X2M5 Hs.537218 GDB:132657 SGII protein-coding 1349692 SEN2 senescence (cellular)-related 2 2300822 6409 GDB:6279927 1345498 SEN3 senescence (cellular)-related 3 1576706 6410 GDB:6279929 1347900 SEN6 senescence (cellular)-related 6 8706800 6411 GDB:6279937 1343700 SEN6A senescence (cellular)-related 6A 8570202 6412 GDB:6279939 1345722 SEN6B senescence (cellular)-related 6B 7520270 6413 GDB:6279941 1321080 SENP1 SUMO1/sentrin specific peptidase 1 1580863 10652325,17704192,17099698,16925949,16712526,16553580,16253240,15917269,15820677,15701643,15489334,15487983,15199155,14563852,12477932,12466471,15546615 29843 NM_014554,AC004801,CH471111,AF149770,AK292060,AL582855,BC045639,BI560893,BX537920,BX640784 NP_055369,EAW57971,EAW57972,AAF31171,BAF84749,AAH45639,CAD97903,CAE45874,Q6N001,Q7Z3G1,Q9P0U3 Hs.371957 SuPr-2 protein-coding 1351152 SENP2 SUMO1/sentrin/SMT3 specific peptidase 2 SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM] 1580863 11896061,12192048,17099700,16738331,15489334,15296745,14702039,12477932,12419228,12168954,11997515,11489887,10718198 59343 NM_021627,AC016961,AC133473,CH471052,AF151697,AK027599,AK074357,AL834380,BC018020,BC040609 NP_067640,EAW78214,EAW78215,EAW78216,EAW78217,AAG15309,BAB55222,CAD39043,AAH40609,Q9HC62 Hs.401388 AXAM2|DKFZp762A2316|KIAA1331|SMT3IP2 sumo1/sentrin/smt3 specific protease 2 protein-coding 1323815 SENP3 SUMO1/sentrin/SMT3 specific peptidase 3 1580863 18259216,17081983,16608850,16565220,16381901,15743823,15635413,15632193,15489336,15489334,15231748,14702039,12477932,11256614,11230166,11076863,11029585,10806345 26168 NM_015670,AC016876,CH471108,AF199459,AK000923,AL050283,AL557688,AL834294,AY008763,BC048306,BC080658,BF514106,CR598185,CR616029,CR626749 NP_056485,EAW90170,EAW90171,EAW90172,AAL25652,BAA91428,CAB43384,CAD38967,AAG33252,AAH48306,AAH80658,Q0JV83,Q9H4L4,Q9NWF3,CAL37577,CAL37586 Hs.513926 DKFZP586K0919|DKFZp762A152|SMT3IP1|SSP3 sumo1/sentrin/smt3 specific protease 3 protein-coding 1312139 SENP5 SUMO1/sentrin specific peptidase 5 737633,1580863 16738315,16608850,15489334,12477932,10806345 737633 205564 NM_152699,AC011322,AC016949,AC127904,CH471191,AF335474,AK124389,AL049229,BC000958,BC008589,BC013799,BC030705,BC036626,CR597398,DC399261 NP_689912,EAW53625,EAW53626,EAW53627,EAW53628,EAW53629,AAK69630,AAH08589,AAH30705,Q96HI0,ABM81775,ABM84929 Hs.240770 DKFZp564O1016|FLJ42398|MGC27076 sumo1/sentrin specific protease 5 protein-coding 1312076 SENP6 SUMO1/sentrin specific peptidase 6 Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]).[supplied by OMIM] 1580863 17081983,17000875,16912044,15489334,15302935,14702039,14574404,14563852,12477932,12354770,11278381,10806345,10799485,9872452 26054 NM_015571,NM_001100409,AL109897,AL355797,AL356057,AL589656,CH471051,AA768785,AB018340,AF196304,AF306508,AF307849,AI732829,AJ710192,AK001406,AK021417,AK021949,AK096455,AK126921,BC028583,CR990444 NP_056386,NP_001093879,CAI19523,CAI23575,CAI23576,CAH74168,CAH74170,CAH72480,CAH72481,EAW48733,EAW48734,EAW48735,EAW48736,BAA34517,AAF04852,AAG30253,AAG29831,BAC04794,Q9GZR1,AAH28583 Hs.485784 FLJ11355|FLJ11887|KIAA0389|KIAA0797|SSP1|SUSP1 protein-coding 1313579 SENP7 SUMO1/sentrin specific peptidase 7 1580863 10652325,11256614,17081983,16381901,15489336,12477932,11230166,11214970,11076863 57337 NM_001077203,NM_020654,AC068764,AC073861,AC110994,CH471052,AB051494,AF199458,AF217504,AL136599,AL833577,BC039900,BC062674,BC129988,BX537943 NP_001070671,NP_065705,EAW79796,EAW79797,EAW79798,EAW79799,EAW79800,EAW79801,EAW79802,BAB21798,AAL25651,AAG09703,CAB66534,AAI29989,CAD97911,Q0JT46,Q0JVG2,Q9BQF6,CAL37498,CAL37839,CAL37848,CAL38318 Hs.529551 KIAA1707|MGC157730 sumo1/sentrin specific protease 7 protein-coding 1320576 SENP8 SUMO/sentrin specific peptidase family member 8 NEDD8 (MIM 603171) is a ubiquitin-like protein that becomes conjugated to the cullin (see CUL1; MIM 603134) subunit of several ubiquitin ligases. This conjugation, called neddylation, is required for optimal ubiquitin ligase activity. NEDD8-specific deneddylases, such as NEDP1, or DEN1, are required to process the NEDD8 propeptide at a C-terminal diglycine motif and to remove NEDD8 from cullins (Gan-Erdene et al., 2003 [PubMed 12759363]).[supplied by OMIM] 1580863 15567417,15775960,15489334,15242646,14702039,12759363,12759362,12730221,12477932 123228 NM_145204,AC020779,CH471082,CS300645,AF308450,AK097557,AK292298,AY008293,BC031411,CR595304,CR611849 NP_660205,EAW77881,CAK32309,AAL06294,BAF84987,AAG21828,AAH31411,Q96LD8,ABM81728,ABM84883 Hs.513002 DEN1|HsT17512|NEDP1|PRSC2 protein-coding 736154 SEP15 15 kDa selenoprotein This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies in mouse suggest that this selenoprotein may have redox function and may be involved in the quality control of protein folding. This gene is localized on chromosome 1p31, a genetic locus commonly mutated or deleted in human cancers. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 9535873,11278576,18239845,16710414,15489334,15198809,15107826,12665801,12600282,12477932,11898406,11230166,10945981,9373149,8125298 9403 NM_203341,NM_004261,AF267982,AF288992,AL121989,CH471097,AF051894,AF288991,AK225252,AK225640,AL833575,BC005294,BC016359,BC021697,BQ429619,BU941543,CB066894,CR597332,CR600103,CR606020,CR622826,CR623772 NP_976086,NP_004252,AAF78966,AAG31557,CAC04186,EAW73176,EAW73177,EAW73178,EAW73179,EAW73180,AAC15478,AAG31556,CAJ18323,AAH05294,AAH16359,AAH21697,O60613,Q4GZG7 Hs.362728 GDB:9956633 selenoprotein protein-coding 1322506 SEPHS1 selenophosphate synthetase 1 This protein encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. 1580863 7665581,16786570,16262699,16189514,16169070,15534230,15489334,12477932 22929 NM_012247,AL138764,AL355870,CH471072,AK125066,AL557595,AL579174,BC000941,BC063816,BC064610,CR590975,CR598779,CR600942,CR604492,CR610247,CR616353,CR626255,U34044 NP_036379,CAI12907,CAI12908,CAI14195,CAI14196,CAI14197,CAI14198,EAW86289,EAW86290,EAW86291,EAW86292,EAW86293,AAH00941,AAH63816,AAA87567,P49903,Q5T5U6,Q5T5U7,Q5T5U8,Q5T5U9,ABM85063 Hs.124027 MGC4980|SELD|SPS|SPS1 protein-coding 1318823 SEPHS2 selenophosphate synthetase 2 This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. This protein itself contains a selenocysteine residue in its predicted active site. The 3' UTR of the gene has a stem-loop secondary structure called a selenocysteine insertion sequence (SECIS) element, which allows UGA to direct the incorporation of selenocysteine rather than signal a translational stop. Alternatively spliced transcripts have been identified, but their biological validity has not been determined. 1580863 8986768,15534230,15489334,14702039,12477932,10608886,7588067 22928 NM_012248,AC116348,CH471192,AK092003,AK093889,BC002381,BC016643,CR606335,U43286 NP_036380,EAW52246,BAC03787,BAC04245,AAH02381,AAH16643,AAC50958,Q8N9T3,Q8NAW0,Q99611 Hs.118725 SPS2 protein-coding 1603617 SEPN1 selenoprotein N, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 16779558,16710414,16498447,16365872,15961312,15792869,15668457,15489334,15122708,12700173,12477932,12192640,11528383,10608886,9585610,8833144 57190 NM_020451,NM_206926,AJ306398,AL020996,AA613025,AF166125,AJ306399,AK172860,AL110205,BC005881,BC015638,BC021028,BC033244,BC042154,BC107036,BQ217758 NP_065184,NP_996809,CAC83790,AAF21430,CAC83791,AAH15638,AAH42154,AAI07037,Q9NZV5,AAI56072 Hs.709360 GDB:11498830 FLJ24021|MDRS1|RSMD1|RSS|SELN protein-coding 737591 SEPP1 selenoprotein P, plasma, 1 This gene encodes a selenoprotein containing multiple selenocysteine (Sec) residues, which are encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This selenoprotein is an extracellular glycoprotein, and is unusual in that it contains 10 Sec residues per polypeptide. It is a heparin-binding protein that appears to be associated with endothelial cells, and has been implicated to function as an antioxidant in the extracellular space. Several transcript variants, encoding either the same or different isoform, have been found for this gene. 1580863 8421687,2037562,14718574,18483336,17986007,17961124,17937618,17536041,17511039,16344560,16335952,15489334,14702039,12477932,12423375,12173025,11442337,11280803,11278668,10782998,10775431,9918658,9915822,9735174,9373149,8884283,8142465,8125298,7931697 6414 NM_005410,NM_001085486,NM_001093726,AC008945,CH471119,DQ022288,AK094640,AK096125,AK225801,AL833145,AU136519,BC005244,BC015875,BC030009,BC040075,BC046152,BC058919,BI463468,CR607105,CR607609,Z11793 NP_005401,NP_001078955,NP_001087195,EAW56026,EAW56027,EAW56028,EAW56029,EAW56030,EAW56031,EAW56032,AAY26400,AAH15875,AAH40075,AAH46152,AAH58919,CAA77836,P49908 Hs.275775,Hs.709405 GDB:138278 SELP|SeP protein-coding 1606287 SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 17194211,17142313,16230358,12477932,11826415,11230739,10931155,10801173 51091 NM_016955,AC007073,AC104662,CH471069,AF146396,AF282065,AJ238617,AJ277541,AK292476,BC012188,BC023539,BC117202,BC126213,BX648976,NM_153825 Q0D2P3,NP_722547,NP_058651,EAW92831,EAW92832,EAW92833,EAW92834,EAW92835,AAD33963,AAG00491,CAB62209,CAB89517,BAF85165,AAH23539,AAI17203,AAI26214,Q17RT1,Q9HD40 Hs.253305 MGC161491|SLA|SLA/LP protein-coding 1316277 SEPT1 septin 1 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. This gene encodes a protein associated with the tau-based paired helical filament core, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. 1580863 16179162,17912427,16189514,15489334,12747765,12477932,9811347,8697812,8590280,2174398 1731 NM_052838,AC116348,AC127457,AF308288,CH471192,AF085235,AL833004,AY034176,BC012161,BQ072902,CR590264,CR594519,CR603276,CR604490,CR606716,CR610165,CR615337,CR622773 NP_443070,AAG48256,EAW52252,EAW52253,AAL40393,CAH56484,AAK61491,AAH12161,Q658T1,Q8WYJ6 Hs.632176 GDB:11498918 DIFF6|LARP|MGC20394|PNUTL3|SEP1 protein-coding 1606447 SEPT10 septin 10 This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. Alternate splicing results in two transcript variants encoding different isoforms. 17657217,15815621,15489334,14702039,12711328,12477932 151011 NM_144710,AC011753,AC140485,CH471182,NM_178584,AB208875,AF146760,AF316880,AK021681,AK022682,AK092033,AK292038,AL049934,AL353938,BC020502,BC050345 NP_848699,NP_653311,AAY24142,EAW53858,EAW53859,EAW53860,EAW53861,EAW53862,EAW53863,EAW53864,BAD92112,AAF67469,BAB13873,BAB14176,BAF84727,CAB43213,CAB89249,Q9H9P7,Q9NSH2,Q9P0V9,Q9Y3S8,AAH20502,AAH50345,Q59H84 Hs.469615 FLJ11619 protein-coding 1349067 SEPT11 septin 11 1580863 15485874,17625225,17546647,15635413,15489334,15196925,15140406,14999297,14702039,12665801,12477932,12107410,11790298 55752 NM_018243,AC104687,AC111196,CH471057,AI580485,AI741944,AK001711,AK027279,AK027633,AK124592,AL110300,BC008083,BC063615,BC064934,BQ021538,BQ221260,CA394082,CR592186,CR612694,CR625731 NP_060713,AAY40922,EAX05803,EAX05804,EAX05805,BAA91853,BAB55014,BAB55250,CAB53741,AAH08083,AAH63615,Q4W5G1,Q96KC0,Q9NVA2,Q9UFY9 Hs.128199 protein-coding 1604543 SEPT12 septin 12 Septins, such as SEPT12, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM] 18047794,15915442,14611653,12477932 124404 NM_144605,AC020663,CH471112,AK058139,AK098718,BC024017,BC035619,DQ456996,DQ517531,EF620906 NP_653206,EAW85264,EAW85265,BAB71681,AAH24017,AAH35619,ABE68946,ABF61438,ABR10901,Q8IYM1 Hs.126780 FLJ25410 protein-coding 1602813 SEPT14 septin 14 17922164,16344560 346288 NM_207366,AC092647,CH471140,AI337138,AK126048,AL041480,DB087561,DB341209,DC400351 NP_997249,EAX07958,EAX07959,BAC86412,Q6ZU15,AAI46358,AAI53167 Hs.453629,Hs.700061 FLJ44060 protein-coding 1342947 SEPT2 septin 2 16565220,16189514,15987492,15774761,15635413,15592455,15489334,15485874,15150837,14531065,12544826,12477932,12446710,12388755,12125979,9847074,9811347,9655500,9203580,8697812,8590280,12695511,17353931,10321247,10942595,18209106,17803907,17637674,17081983,16914550,16807684,16682951 4735 NM_001008491,NM_006155,NM_001008492,NM_004404,AC005104,AC104841,CH471063,AF038404,BC014455,BC033559,BC040676,BC043180,BG721140,BI561073,BX648000,CR589975,CR593579,CR608761,CR620550,CR625560,CR626414,D28540,D63878 NP_001008491,NP_006146,NP_001008492,NP_004395,AAY14718,EAW71258,EAW71259,EAW71260,EAW71261,AAB92377,AAH14455,AAH33559,BAA05893,BAA09928,Q15019,Q53QU3,ABM83173,ABM86373 Hs.335057,Hs.702241 GDB:270143 DIFF6|KIAA0158|NEDD5|Pnutl3|hNedd5 protein-coding 736597 SEPT3 septin 3 This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 1580863 16381901,15489336,15485489,15461802,15200238,15107017,12477932,11322766,11230166,11076863,10591208,8889548 55964 NM_019106,NM_145733,CH471095,Z99716,AB209152,AF285107,AF285108,AF285109,AI341333,AK290037,AL833942,BC111779,BM666855,BX465056,CR456572,CR604795,CR611488,CR616689,CR618252 NP_061979,NP_663786,EAW60478,EAW60479,EAW60480,EAW60481,EAW60482,CAI41693,CAQ07552,CAQ07553,CAQ07554,BAD92389,AAG00517,AAG00518,AAG00519,BAF82726,CAD38797,AAI11780,CAG30458,Q9UH03,CAL37625,CAK54602,CAK54901 Hs.120483 GDB:11498925 MGC133218|SEP3|bK250D10.3 protein-coding 1349607 SEPT4 septin 4 This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. The protein encoded by this gene is thought to be part of a complex involved in cytokinesis. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 9889007,11146656,17764158,17644312,17546647,17383018,17296554,17105210,16464805,16376484,15837787,15489334,15214843,15122323,15116257,15029247,14702039,14559152,12695511,12544826,12477932,12032658,11511094,11167005,10340703 5414 BC142968,CR457111,CR597931,CR603899,CR604379,D89278,U88829,NM_080415,NM_080416,NM_004574,AC005666,CH471109,AB002110,AB008753,AF035811,AF073312,AF176379,AK091065,AK094579,AK126631,BC018055,BC018056,BC128255,BC128515,U88870 CAG33392,BAB46922,NP_536340,NP_536341,NP_004565,EAW94440,EAW94441,EAW94442,EAW94443,EAW94444,EAW94445,EAW94446,EAW94447,EAW94448,EAW94449,EAW94450,EAW94451,EAW94452,EAW94453,BAB70694,BAB70695,AAB88512,AAC25673,AAG45673,AAH18056,AAD00653,AAD00657,O43236,Q96Q97,Q9H315,ABM83262,ABM86467 Hs.287518 GDB:9863220 ARTS|BRADEION|CE5B3|H5|MART|PNUTL2|SEP4|hCDCREL-2|hucep-7 protein-coding 1350777 SEPT5 septin 5 This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Two transcripts of this gene, a major one of 2.2 kb and a minor one of 3.5 kb, have been observed. The 2.2 kb form results from the utilization of a non-consensus polyA signal (AACAAT). In the absence of polyadenylation from this imperfect site, the consensus polyA signal of the downstream neighboring gene (GP1BB; platelet glycoprotein Ib) is used, resulting in the 3.5 kb transcript. An alternatively spliced transcript variant with a different 5' end has also been identified, but its full-length nature has not been completely determined. 9385360,10321247,9611266,17625225,16179808,16169070,15489334,15461802,15345747,15231747,14559152,15214843,15116257,14702039,14530399,12909369,12477932,12023038,11880646,11146656,11078524,9760144,9655500,9600980,9022087,8021244 5413 Y11593,NM_002688,AC000093,AF006988,CH471176,AF061154,AK056273,BC025261,BC030503,CR456545,CR597468,CR598470,CR601109,CR603626,CR605683,CR608884,CR608991,CR609437,CR610263,CR613594,CR619352,CR621875,U74628,U85431 O95648,CAA72332,Q59GE1,Q7KYV2,Q96MY5,Q99648,Q99719,CAK54576,CAK54875,NP_002679,AAC39779,AAC39780,EAX03030,AAC25958,BAB71133,AAH25261,CAG30431,AAB93438,AAD00564 Hs.283743 GDB:9863218 CDCREL|CDCREL-1|CDCREL1|H5|PNUTL1 protein-coding 1316585 SEPT6 septin 6 This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. 634004,1580863 11809673,18047794,17803907,17637674,17229681,16914550,16843108,16189514,15772651,15489334,14531065,12665801,12544826,12477932,12446710,12388755,12096348,11064363,10744683,8590280 634004 23157 NM_145802,NM_145800,NM_015129,NM_145799,AC004913,AC005052,AL355348,CH471161,AF397023,AF403058,AF403059,AF403061,AF403062,AK026589,AK290977,AF403060,AL833677,AY005981,AY034177,AY679521,BC009291,BC011922,BC036240,BC069231,CR607912,CR610105,CR614657,D50918,DC336432 Q6NT82,Q8NFH9,Q8NFI0,Q8NFI2,NP_665801,NP_665799,NP_055944,NP_665798,EAW89851,EAW89852,EAW89853,EAW89854,EAW89855,EAW89856,EAW89857,EAW89858,AAN76547,AAK98547,AAK98548,AAK98549,AAK98550,AAK98551,BAF83666,AAF97496,AAK61492,AAT80339,AAH09291,AAH11922,AAH36240,AAH69231,BAA09477,Q14141,Q5JTK1,Q5JTK2,Q5JTK3,Q5JTK4,Q6B514 Hs.496666 KIAA0128|MGC16619|MGC20339|RP5-876A24.2|SEP2|SEPT2 protein-coding 1604654 SEPT7 septin 7 This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. Although the exact function of this gene has not yet been determined, its high similarity to yeast CDC10 and the high conservative nature of eukaryotic cell cycle machinery suggest a similar role to that of its yeast counterpart. Alternative splicing results in two transcript variants encoding different isoforms. 8037772,15485874,17803907,17637674,17081983,16914550,16344560,15635413,15592455,15489334,15342556,14531065,12477932,12388755,11584266,10931866,9655500,9373149,8125298,17353931 989 NM_001011553,NM_001788,AC007551,AC087072,CH236951,CH471073,AA853468,AB073389,AB209677,AK223225,AK223241,AK290545,AL050392,BC022442,BC025987,BC067264,BC093640,BC093642,BC107718,BI669760,BP280069,BQ229116,BQ232357,BX435313,BX571755,CR591983,CR593525,CR598145,CR609589,CR623918,CR625618,DA352853,DQ232879,S72008 NP_001011553,NP_001779,EAW94059,EAW94060,EAW94061,EAW94062,BAE45719,BAD92914,BAF83234,CAI46224,AAH25987,AAH67264,AAH93640,AAH93642,AAI07719,CAE11880,ABB17294,AAB31337,Q16181,Q309B3,Q3B7A3,Q3LIE9,Q53FP1,Q53FQ7,Q59EY4,Q5JXL7,Q8TC62 Hs.191346 GDB:378627 CDC10|CDC3|Nbla02942|SEPT7A protein-coding 1318222 SEPT8 septin 8 SEPT8 is a member of the highly conserved septin family. Septins are 40- to 60-kD GTPases that assemble as filamentous scaffolds. They are involved in the organization of submembranous structures, in neuronal polarity, and in vesicle trafficking (Blaser et al., 2003 [PubMed 12909369]).[supplied by OMIM] 1580863 16767699,17353931,17625225,16344560,15489334,15214843,15116257,12909369,12477932,12475938,12098780,12023038,10704283,9149945,9039502,8889548 23176 NM_001098811,NM_001098813,NM_015146,NM_001098812,AC004775,CH471062,AF179995,AF440761,AF440762,AF440763,AK057797,BC001329,BU739074,CR590471,CR617026,D86957,DA261871 NP_001092281,NP_001092283,NP_055961,NP_001092282,EAW62315,EAW62316,EAW62317,AAG09407,AAO13878,AAO13879,AAO13880,AAH01329,BAA13193,Q92599,AAI60179 Hs.533017 KIAA0202|SEP2 protein-coding 1349459 SEPT9 septin 9 Septin-9 is a member of the septin family, which contains cytoplasmic cytoskeletal filament-forming proteins that have a conserved GTP-binding domain (Osaka et al., 1999 [PubMed 10339604]).[supplied by OMIM] 1599349 10339604,15485874,16007136,17546647,17081983,16964243,16424018,16344560,16186812,16161048,15782116,15489334,15302935,14702039,12626509,12477932,12388755,12095151,11593400,10987277,10673329,10673328,10485469,10231032,9439655,16189514 1599349 10801 NM_001113493,NM_001113494,NM_001113495,NM_001113496,AC068594,AC111170,AC111182,CH471099,AA523782,NM_001113492,AB023208,NM_006640,NM_001113491,AF123052,AF142408,AF142569,AF189712,AF189713,AJ312319,AJ312320,AJ312321,AJ312322,AJ312323,AK022493,AK056495,AK097965,AK290368,AL080131,BC018877,BC021192,BC054004,BC064642,BC114550,BQ279153,BT007215,CR596235,CR597569,CR604409,CR610977,CR614659,CR626353,DA234895,DB007851,DB148645,DC307336 NP_001106964,NP_001106965,NP_001106966,NP_001106967,NP_001106968,EAW89461,EAW89462,EAW89463,EAW89464,EAW89465,EAW89466,EAW89467,EAW89468,NP_006631,NP_001106963,BAA76835,AAD39749,AAG27919,AAG27922,AAF23373,AAF23374,CAC42221,CAC42222,CAC42223,CAC42224,CAC42225,BAB14057,BAC05206,BAF83057,CAB45728,AAH21192,AAH54004,AAI14551,AAP35879,Q1WWK5,Q8N1J5,Q96QF2,Q9HC74,Q9UHD8,ABM92240,ABM84718 Hs.440932,Hs.672188 GDB:9958353 AF17q25|FLJ75490|KIAA0991|MSF|MSF1|NAPB|PNUTL4|SINT1|SeptD1 protein-coding 737006 SEPW1 selenoprotein W, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein shows highest expression in skeletal muscle and heart, and may be involved in oxidation-reduction reactions. A retroprocessed pseudogene, SEPW1P, has been identified and mapped to chromosome 1p35-34. 15823556,15670848,15489334,14702039,12818432,12775843,12477932,11215511,10708517,9256076,7896009 6415 NM_003009,AC008745,AF247455,CH471126,AF015283,AK026717,AK091604,BC000581,BC032546,BC039597,BC047893,BF032577,BF973456,BU185196,CR597656,CR615311,CR617899,U67171 NP_003000,AAL00898,EAW57511,EAW57512,EAW57513,AAB69859,AAH00581,AAH32546,AAH39597,AAH47893,AAC51665,P63302 Hs.631549 GDB:9784215 selW protein-coding 1344473 SEPW1P selenoprotein W, 1 pseudogene 12818432 23679 NG_002791,AF083062,AL356320 GDB:10450506 pseudo 1312916 SEPX1 selenoprotein X, 1 This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein belongs to the methionine sulfoxide reductase B (MsrB) family, and it is expressed in a variety of adult and fetal tissues. 1580863 14699060,17938273,15489334,12477932,11779133,11157797,11042152,10608886,10567350,8889548 51734 NM_016332,AC005363,AE006640,CH471112,AF161388,AF166124,AF187272,AK026128,BC003127,CF134919,CR590497,CR598886,CR609793,CR614779,CR616027 NP_057416,AAK61300,EAW85600,EAW85601,AAF28948,AAF21429,AAG17033,AAH03127,Q9NZV6 Hs.655346 GDB:11504555 HSPC270|MGC3344|MSRB1|SELR|SELX protein-coding 1349770 SERAC1 serine active site containing 1 15489334,14702039,14574404,12477932 84947 NM_032861,AL135907,AL590703,CH471051,AK023656,AK027823,AK125878,BC001705,BC028594,BC048335,BC060795,BX648104 NP_116250,CAI42499,CAI42500,CAI42501,CAH70239,CAH70240,EAW47664,BAB55393,AAH01705,AAH28594,Q96JX3 Hs.154706 FLJ14917|FLJ30544 protein-coding 1606807 SERBP1 SERPINE1 mRNA binding protein 1 17081983,16964243,16963292,16879614,16679534,16303743,15489334,14702039,12477932,12027469,11972486,11230166,10810093,9373149,9110174,8619474,8125298,11001948,12505151,17698176 26135 NM_001018067,NM_001018069,NM_001018068,NM_015640,AL358512,AL590559,CH471059,AF131807,AF151813,AK074970,AK095960,AK130606,AK222955,AK223138,AL080119,AY032853,BC002488,BC003049,BC008045,BC017449,BC019273,BC020555,BC026916,BC036414,BI464676,BX647139,CR457383,CR590336,CR591521,CR593099,CR594726,CR602102,CR603977,CR604194,CR606774,CR607610,CR613013,CR615065,CR619466,CR623154,CR623194,CR624521 NP_001018077,NP_001018079,NP_001018078,NP_056455,CAH73323,CAH73324,CAH73325,CAH73326,EAX06489,EAX06490,EAX06491,EAX06492,EAX06493,EAX06494,EAX06495,EAX06496,EAX06497,AAD34050,BAC11324,BAD96675,BAD96858,CAB45718,AAK51130,AAH02488,AAH03049,AAH08045,AAH17449,AAH19273,AAH20555,AAH26916,CAH56188,CAG33664,Q5VU19,Q5VU20,Q5VU21,Q5VU22,Q63HR1,Q8NC51 Hs.708014 CGI-55|CHD3IP|DKFZp564M2423|FLJ90489|HABP4L|PAI-RBP1|PAIRBP1 protein-coding 1603821 SERBP1P SERPINE1 mRNA binding protein 1 pseudogene 389866 NG_005103,AL353587 SERBP1P1 pseudo 1350108 SERF1A small EDRK-rich factor 1A (telomeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. 1580863 15489334,12477932,11181995,10486205,9731538,9503025 8293 NM_021967,XM_001713905,AC139494,AC139834,CH878701,AF073518,AF073519,AF073520,BC021174,BC035932,BC093880,BC093882,CR626737 NP_068802,XP_001713957,EAW50867,AAC63517,AAC63518,AAH21174,AAH35932,AAH93880,AAH93882,O75920 Hs.559428 GDB:9954671 4F5|FAM2A|H4F5|SERF1|SMAM1 protein-coding 1353994 SERF1B small EDRK-rich factor 1B (centromeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. 9731538,15489334,12477932,10486205 728492 NM_022978,XM_001720851,XM_001720856,AC004999,AC139277,BC101970,BC103687,BC104738 NP_075267,XP_001720903,XP_001720908,AAI01971,AAI03688,AAI04739,O75920 Hs.658079 GDB:10796883 FAM2B|H4F5C|MGC125278|MGC125279|MGC125280 protein-coding 1344606 SERF2 small EDRK-rich factor 2 16916647,16344560,15489334,14702039,12477932,11042152,9731538,9700202,8889548,16189514 10169 NM_001018108,AC018512,AF073298,AF320073,AK000479,AK094846,AL049976,AV713454,BC008214,BC009869,BC015491,BC022326,BC038893,BM970646,CR600456,CR601339,CR610597,CR611140,CR622391,CR626415,DA051124 NP_001018118,AAC63516,AAK07636,AAH15491,AAH22326,P84101,ABM82421,ABM85612 Hs.424126 GDB:9955344 4F5REL|FAM2C|FLJ20431|FLJ37527|FLJ38557|H4F5rel|HsT17089|MGC48826 protein-coding 1603222 SERGEF secretion regulating guanine nucleotide exchange factor 10571079,12459492,15489334,14980502,12477932,10737800,8889548 26297 NM_012139,AC055860,AC124058,AC124078,CH471064,AJ243950,AJ243951,AK292286,BC000707,BC065375,BE075522,BM709308,BU932034,CB051322,CR596582 NP_036271,EAW68423,EAW68424,CAB60832,CAB60833,BAF84975,AAH65375,Q9UGK8 Hs.32470 DELGEF|Gnefr protein-coding 1346851 SERHL serine hydrolase-like 1580863 15489334,15461802,14702039,12529303,12477932,11352564,10591208 94009 NM_170694,XM_001719595,AL022316,CH471095,CH471138,AK094872,AL365513,BC093888,BC127635,BC127636,CR456455,CR626440 NP_733795,XP_001719647,EAW60507,EAW73257,BAC04444,CAB97209,AAH93888,AAI27636,AAI27637,CAG30341,Q8N1U3,Q9NQF3 Hs.656672 GDB:11507803 BK126B4.1|BK126B4.2|HS126B42|dJ222E13.1 protein-coding 1602055 SERHL2 serine hydrolase-like 2 15489334,12529303,12477932,11352564,10591208 253190 NM_014509,Z93241,AL450314,AL589866,AL590118,AL590120,BC119650,BC119651 NP_055324,CAI19834,CAC16804,CAC34477,CAC34871,CAC34873,AAI19651,AAI19652,Q0VDJ0,Q6ICB3,Q8IVW2,Q9H4I8,CAK54436,CAK54735 Hs.360940 MGC149508|dJ222E13.1 protein-coding 1349070 SERINC1 serine incorporator 1 1580863 17081983,15489334,14574404,12975309,12477932,10931946,10637174,10574462 57515 NM_020755,AF092436,CH471051,Z99129,AB033079,AF087902,AF164794,AK075339,AK128781,AL137261,AY358429,BC014412,BC028607,BC033029,CR592244,CR600110,CR603380,CR624341 NP_065806,AAP97211,EAW48172,EAW48173,BAA86567,AAP97200,AAF80758,CAB70662,AAQ88795,AAH28607,AAH33029,Q9NRX5 Hs.146668 KIAA1253|TDE1L|TDE2|TMS-2 protein-coding 1322836 SERINC2 serine incorporator 2 15489334,14702039,12975309,12949800,12477932 347735 NM_178865,AC114494,CH471059,AF352325,AK093784,AK127659,AY094595,AY358560,BC007375,BC017085,BC063006,BC084580,BC126283,BC126285,CR599180,CR605110,CR606889,CR608200,CR608538,CR608912,CR611236,CR613892,CR618465,CR619066,CR620507,CR621050,CR622064,CR626785 NP_849196,EAX07611,EAX07612,EAX07613,EAX07614,EAX07615,EAX07616,AAK83284,AAM22522,AAQ88924,AAH07375,AAH17085,AAH84580,AAI26284,AAI26286,Q96AI1,Q96IM8,Q96SA4,Q9P1L9 Hs.270655 FKSG84|MGC90340|PRO0899|TDE2|TDE2L tumor differentially expressed 2-like protein-coding 1318130 SERINC3 serine incorporator 3 1580863 17353931,10559794,16547497,15489334,12477932,11780052,9373149,8889548,8125298,7566098 10955 AK222923,BC006088,BU739133,BX456085,CA950523,CB956722,CR612942,CR614932,CR617136,U49188,NM_198941,NM_006811,CH471077,Z97053,AA294859,AF112227,AF153979 BAD96643,AAH06088,AAB48858,Q13530,Q53GK8,Q5H936,ABM84318,ABM87713,NP_945179,NP_006802,EAW75915,EAW75916,CAB09783,CAI19683,AAD22448,AAD34641 Hs.272168,Hs.696043 GDB:9958644 AIGP1|DIFF33|SBBI99|TDE|TDE1|TMS-1 tumor differentially expressed 1 protein-coding 1606056 SERINC4 serine incorporator 4 16120614,14702039 619189 NM_001033517,AC018512,CH471082,AK097682,BC136669,BX647438,CR616011,DQ103711 NP_001028689,EAW77244,EAW77245,EAW77246,AAI36670,AAZ80298 Hs.604985 FLJ40363 protein-coding 1604715 SERINC5 serine incorporator 5 17672918,15637075,12688535,12477932 256987 NM_178276,AC010260,AC012636,CH471084,AF498273,BC101280,BC101281,BC101282,BC101283 NP_840060,EAW95843,EAW95844,EAW95845,AAP06800,AAI01281,AAI01282,AAI01283,AAI01284,Q495A5,Q86VE9 Hs.655558 GDB:11510672 C5orf12|TPO1 protein-coding 1601762 SERP1 stress-associated endoplasmic reticulum protein 1 10601334,16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,10931946 27230 AC107426,CH471052,AA890577,AB022427,AF136975,AK054644,AK090933,AK093929,AK098135,AK125413,AL136807,BC108314,BC112364,NM_014445,BC112365,CR533472,CR594259,CR594954,CR596114,CR606798,CR618644,CR618949,DB022941 NP_055260,EAW78833,EAW78834,EAW78835,EAW78836,BAA81895,AAG49436,CAB66741,AAI08315,AAI12365,AAI12366,CAG38503,Q9Y6X1,CAL37667,CAL38137 Hs.518326 MGC117327|MGC133321|MGC133322|RAMP4 protein-coding 1346471 SERP2 stress-associated endoplasmic reticulum protein family member 2 16189514,15489334,15057823,12477932 387923 NM_001010897,AL138960,CH471075,BC029067,CR611312 NP_001010897,CAI12995,EAX08708,AAH29067,Q5TAR5,Q5TAR6,Q8N6R1 Hs.377972 C13orf21|MGC35505|RP11-269C23.1|bA269C23.1 protein-coding 1349357 SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. 1580863,1643158,1625796,1626391,1643144,1643147,1643148,1643154,1643155,1624236,1641805,1643168,1601202,1643145,1643149,1643164 12878203,15845869,16192646,59727,14718574,18433707,18309698,18283111,18264947,18258845,18164971,18089349,18060368,18031952,18028276,17972336,17855650,17727818,17693072,17688648,17660256,17659342,17654345,17650587,17635928,17573378,17261591,17240615,17237579,17204961,17203708,17006922,17003923,16979136,16954950,16900211,16887359,16875754,16859601,16819398,16802007,16759229,16622833,16617455,16608528,16581345,16540089,16531799,16501672,16449194,16449193,16387939,16385367,16344560,16339299,16335952,16312203,16278826,16263699,16204591,16183649,16179568,16175011,16172282,16099106,16044402,16029614,16011217,15994391,15927063,15820782,15820772,15775753,15709777,15681822,15674733,15659365,15653097,15612581,15532029,15498560,15489334,15474273,15454649,15342556,15271889,15271689,15266208,15131125,15100318,15084671,15079023,15014966,14968215,14766207,14766206,14760718,14639110,14616761,14551891,14523999,12934194,12933574,12893950,12878320,12860985,12815594,12815101,12796484,12786756,12754519,12689922,12649292,12626422,12612303,12608432,12578879,12528263,12514663,12498804,12492914,12477932,12464660,12464659,12460583,12452840,12372062,12368052,12324297,12244055,12223217,12119297,12114510,12083479,12023832,12023831,12009885,11991955,11936950,11862702,11848724,11834734,11785295,8543039,8364590,8358043,8076819,7980522,7977369,7566098,7045697,7031661,6983488,6982267,6979715,6976274,6966283,6604220,6387509,6333329,6332197,6322161,6319097,6191979,6153632,6093867,3876243,3873938,3500042,3491072,3490426,11773044,11754061,11744816,11562937,11436564,11427540,11368345,11317942,11295654,11260148,11202478,11199103,11178897,11148177,11131449,11057674,11034936,10933492,10867014,10716194,10708851,10677536,10651487,10612848,9545340,9466920,9459000,9079644,8939743,8756325,3262617,3257351,2985281,2901226,2787118,2786335,2785270,2784123,2696185,2669992,2610933,2606478,2539391,2394452,2390072,2339709,2316526,2309708,2254451,2227940,2035534,1975477,1967187,1905728,1859394,1602151,1429867,1406456,1079736,12621451,8227051,14687906,16189514 1643158,1625796,1626391,1643144,1643147,1643148,1643154,1643155,1624236,1641805,1643168,1601202,1643145,1643149,1643164 5265 NM_001002236,NM_001002235,NM_000295,NM_001127700,NM_001127701,NM_001127702,NM_001127703,NM_001127704,NM_001127705,NM_001127706,NM_001127707,AL132708,CH471061,DQ174461,DQ343612,J00064,J00066,J00067,J02619,K02212,AA317159,AF119873,AK026174,BC011991,BC015642,BC070163,BG483969,BM844817,BM923322,BP296710,BP300943,BP301274,BT019455,BX161449,BX247968,BX248002,BX248257,BX477352,CD685665,CR590437,CR591499,CR592138,CR592520,CR592634,CR592812,CR594071,CR594926,CR596052,CR596840,CR597045,CR597876,CR598299,CR598607,CR599435,CR600354,CR601127,CR601468,CR602463,CR602969,CR604514,CR606920,CR611921,CR613171,CR613538,CR618299,CR618885,CR619433,CR621385,CR621562,CR623210,CR625038,CR625360,CR626145,DA427262,DA428299,DA433050,DA433058,DA672472,DA675981,DA966896,DQ682455,K01396,M11465,M26123,V00496,X01683,X02920,X05826,X05827,CR621386,X17122 NP_001002236,NP_001002235,NP_000286,NP_001121172,NP_001121173,NP_001121174,NP_001121175,NP_001121176,NP_001121177,NP_001121178,NP_001121179,EAW81570,EAW81571,EAW81572,EAW81573,EAW81574,EAW81575,EAW81576,ABA41642,ABC62080,AAB59369,AAB59370,AAB59371,AAA51547,AAB59495,AAF69627,AAH11991,AAH15642,AAV38262,CAD61914,CAD62306,CAD62334,CAD62585,ABG73380,AAB59375,AAA51546,AAA51545,CAA23755,CAA25838,CAA26677,CAA29267,CAA34982,P01009,Q13747,Q2L9S7,Q3I0J7,Q9P173,Q9UCE6,Q9UCM3 Hs.525557 GDB:120289 A1A|A1AT|AAT|MGC23330|MGC9222|PI|PI1|PRO2275 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 1 protein-coding 1353693 SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 1580102,1580104,1580863 10460162,17582153,16527896,16335952,16093243,16079143,15489334,15014966,12975309,12477932,11049983,10829076,9689066 1580102,1580104 51156 NM_016186,AL117259,CH471061,AF181467,AI174900,AY358597,BC022261,BX248011,CR606434,NM_001100607 NP_001094077,NP_057270,EAW81564,EAW81565,EAW81566,AAD53962,AAQ88960,AAH22261,CAD62339,Q9UK55,ABM82923,ABM86113 Hs.118620 GDB:11163859 PZI|ZPI serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 10 protein-coding 1345910 SERPINA11 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 1302440 15014966 1302440 256394 NM_001080451,AL132708,BC146962,BX248259 NP_001073920,AAI46963,CAD62587,Q86U17,AAI52931 Hs.145890 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 11 protein-coding 1348482 SERPINA12 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 737633,1580863 17991760,16298335,16030142,15489334,15014966,12477932 737633 145264 NM_173850,AL132708,AL132990,CH471061,AY177692,AY326420,BC040857 NP_776249,EAW81578,AAO18649,AAP88384,AAH40857,Q8IW75 Hs.99476 OL-64 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 12 protein-coding 1352813 SERPINA13 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) 1302440 16395595,15769666,15014966,12975309,12477932 1302440 388007 NM_207378,NR_015340,AL049839,CH471061,AY358238 NP_997261,EAW81593,AAQ88605,AAI56105,AAI56897 Hs.527795 UNQ6121 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 13 pseudo 1345816 SERPINA2 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 2 1580863 2842251,17135331,15014966 390502 P20848 XM_372532,XM_940078,AL117259,AL132708,M19684,M19685 XP_372532,XP_945171,AAA51544,P20848 Hs.666160 GDB:120291 ARGS|ATR|PIL|psiATR protein-coding 1343168 SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. 1580109,1580110,1580863 10618372,10512690,10228625,10209959,3485824,3260956,3257719,3028924,2945424,2787670,2456771,2435303,2432851,2404007,2190106,2016749,1618300,1351206,1311327,16189514,15131125,3492865,3490907,16453284,16565071,16424370,16335952,16303762,16278826,16137793,15935385,15907346,15718509,15659365,15653173,15638460,15612581,15546506,15542006,15530656,15489334,15482730,15159602,15014966,14760718,14702039,12782964,12754519,12736093,12685871,12600202,12477932,12324297,12126519,12023832,11992569,10048303,9880565,14668352,12709365,14687906,12475184,11835318,14718574,18248459,18078695,18056971,17854420,17690329,17608807,16968986,16892178,11959399,11936240,11916200,11798857,11769703,11735417,11692021,11385264,11317942,11295654,11290389,11289720,11274154,11132933,11099722,11096092,10829039,10759471,10660528,9824262,9698370,9635374,9580375,9521649,9428387,9261179,9042371,8849841,8836107,8739078,8732755,8718849,8376411,8365378,8267879,8244391,8226889,8216224,8011628,7966721,7924407,7873202,7759598,7588564,7528097,7521171,6762318,6687683,6606438,6556193,6547997,3637050 1580109,1580110 12 NM_001085,AL049839,CH471061,CS081989,X00947,X68733,AB209060,AF089747,AK093049,AK096120,AK123091,AY513275,AY513276,BC003559,BC010530,BC013189,BC034554,BC070265,BG565041,CB111903,CR590750,CR590774,CR592388,CR593040,CR593688,CR595639,CR597046,CR600352,CR601472,CR602814,CR605766,CR607384,CR607976,CR609815,CR610368,CR611190,CR612671,CR613551,CR614066,CR614583,CR615154,CR615849,CR617878,CR618039,CR618889,CR618899,CR619614,CR619948,CR620316,CR620629,CR620631,CR620654,CR620688,CR622184,CR623490,CR624780,CR625124,CR625741,CR626687,J05176,K01500,M18906,CR591314 NP_001076,EAW81587,EAW81588,EAW81589,EAW81590,CAI95958,CAA25459,CAA48671,BAD92297,AAD08810,AAT08028,AAT08029,AAH03559,AAH10530,AAH13189,AAH34554,AAH70265,AAA51560,AAA51543,AAA51559,P01011 Hs.534293,Hs.707201 GDB:118955 AACT|ACT|GIG24|GIG25|MGC88254 serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 3 protein-coding 1348774 SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 1302507,1580289,1580863 8227002,1334488,17729417,16335952,15489334,15014966,12810351,12757180,12754519,12734113,12477932,7835886,12384424,11341921,11258665,11016932,10991942,10862973,10547191,9889257,9826127,8950506,8853434,8648266,7474653,2558505,16189514 1302507,1580289 5267 NM_006215,AL049839,CH471061,L28101,BC014992,BX248009,BX248760,CR605698,CR622620,L19684 NP_006206,EAW81579,EAW81580,EAW81581,AAC41706,AAH14992,CAD62337,CAD66567,AAA59454,P29622,ABM83126,ABM86321 Hs.159628 GDB:266537 KAL|KLST|KST|PI4|kallistatin serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 4 protein-coding 1346137 SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 1580299,1580863 7521127,11120760,9510955,14718574,18362344,18193533,17450526,17332248,17258797,16335952,15878512,15822942,15489334,15377716,15014966,14760718,14702039,14696115,14518028,12878585,12575940,12477932,11864713,11722589,11686324,11583740,11123896,10805286,10438718,10417615,10391209,10209959,9556620,9473218,9368023,9365930,8732755,8713781,8665956,8589203,8471250,8384496,8381582,8148499,8148485,7525654,7509746,6294098,3027058,2752144,2556811,2551064,2173165,2172989,1714450,1372913,1318261,16189514 1580299 5104 NM_000624,AF361796,AL049839,CH471061,M68516,S69366,AK096131,AL080185,BC008915,J02639,S58545,U35464 NP_000615,AAK27240,EAW81582,EAW81583,EAW81584,EAW81585,EAW81586,AAA02811,AAB30461,CAB45766,AAH08915,AAA35688,AAB26244,AAB60386,P05154,ABM84453,ABM87551 Hs.510334 GDB:134739 PAI3|PCI|PLANH3|PROCI protein-coding 1353758 SERPINA6 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. 1580863 14760718,12780753,12554596,12477932,12364459,12154211,11893012,11752456,11502797,11076863,10634411,10474016,10436419,9739422,9383284,9378466,3299377,17547679,17245537,16381901,16335952,16222046,15877287,15554358,15489336,15489334,15014966,14871264,9373149,8539782,8212073,8180202,8125298,7912884,7878688,7734053,7172869,3751467,3386241,3347061,2821037,2612005,2608068,2253941,2240617,1504007,932172 866 NM_001756,AL117259,CH471061,M31662,AK225591,AK290821,AV689566,BC017462,BC036818,BC056259,BC058021,J02943 NP_001747,EAW81567,EAW81568,BAF83510,AAH56259,AAH58021,AAB59523,P08185,Q0JTW7,CAL37483,CAL37486,CAL38045,CAL38218 Hs.532635 GDB:127865 CBG serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 6 protein-coding 1351148 SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 1600137,1600139,1580863 3094014,14718574,7499319,17887925,16335952,15772651,15489334,12871948,12477932,11931635,11916615,11889160,11600582,11147833,11061524,9768672,9510125,8530630,8268226,8232304,7951486,7557975,2501669,2495303,2155256,2115061,1943753,1906892,1906047,1903654,1901689,1515456,1294376,414747 1600137,1600139 6906 NM_000354,CH471120,L13470,X64171,Z83850,BC020747,M14091 NP_000345,EAX02745,EAX02746,EAX02747,EAX02748,AAA16067,CAA45509,CAB06092,AAH20747,AAA60616,P05543,ABM82913,ABM86103 Hs.76838 GDB:120399 TBG serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 7 protein-coding 1312435 SERPINA9 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 17898315,17447896,15014966,12975309,12819018,12477932,11069088 327657 NM_175739,NM_001042518,AL132708,CH471061,AY185496,AY185497,AY220118,AY220119,AY220121,AY358700,BC089422,AY220120,BC111498 NP_783866,NP_001035983,EAW81577,AAO32345,AAO32346,AAO65242,AAO65243,AAO65245,AAQ89063,AAH89422,AAI11499,Q2T9J2,AAO65244,Q5EBM1,Q86WD4,Q86WD5,Q86WD7 Hs.317970 GDB:11240319 GCET1|MGC131906|SERPINA11|SERPINA11b serine (or cysteine) proteinase inhibitor, clade a (alpha-1 antiproteinase, antitrypsin), member 9 protein-coding 1314687 SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 1580863 1376927,15952740,15489334,14574404,12665801,12477932,12189154,12114510,11747453,10924364,9858835,9630619,9373149,8530031,8125298,7654387,7578269,1286667 1992 NM_030666,AF053630,AL139092,CH471087,AK223370,AK291327,BC009015,BT006928,CR595001,CR596453,CR600548,CR610002,CR610741,CR626605,M93056 NP_109591,AAC31394,CAH73667,EAW55089,EAW55090,BAD97090,BAF84016,AAH09015,AAP35574,P30740 Hs.381167 GDB:132914 EI|ELANH2|LEI|M/NEI|MNEI|PI2 protein-coding 733342 SERPINB10 serpin peptidase inhibitor, clade B (ovalbumin), member 10 1580863 12477932,10871600,10196205,9268635,7592909 5273 P48595,Q4VAX6,Q4VAX7 U35459,NM_005024,AC009802,AC072051,BC096218,BC096219,CH471096,BC096217,BC096220 AAC50282,P48595,Q4VAX6,Q4VAX7,NP_005015,AAH96218,EAW63162,AAH96217,AAH96219,AAH96220 Hs.158339 GDB:636283 PI10|bomapin protein-coding 1315147 SERPINB11 serpin peptidase inhibitor, clade B (ovalbumin), member 11 1580863 17567994,17562709,15489334,12477932 89778 NM_080475,AC069356,CH471096,AF419953,AF419954,AF419955,AK292775,AY739645,AY792323,AY792324,AY792325,AY792326,BC069596,BC130370,BC130372,DC383104 NP_536723,EAW63158,AAL16056,AAL16057,AAL16058,BAF85464,AAU81932,AAV73920,AAV73921,AAV73922,AAV73923,AAH69596,AAI30371,AAI30373,Q5Q120,Q5Q121,Q5Q122,Q5Q123,Q96P15 Hs.350958 GDB:11241271 EPIPIN|MGC163242|MGC163244|SERPIN11 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 11 protein-coding 1343942 SERPINB12 serpin peptidase inhibitor, clade B (ovalbumin), member 12 1580863 11604408,12477932 89777 NM_080474,AC090307,CH471096,AF411191,BC103884,BC103885 NP_536722,EAW63149,AAL05571,AAI03885,AAI03886,Q3SYB4,Q3SYB5,Q96P63 Hs.348541 GDB:11241709 MGC119247|MGC119248|YUKOPIN serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 12 protein-coding 1312230 SERPINB13 serpin peptidase inhibitor, clade B (ovalbumin), member 13 1580863 9297979,10512713,16433682,16357159,15885077,15489334,12809493,12504904,12477932,11313015,11004515,10527881 5275 AJ001698,AL050177,BC101821,NM_012397,AC090307,AF216854,AJ278717,CH471096,AF169949,AJ001696,AJ001697 CAA04937,AAI01822,Q9UIV8,NP_036529,AAF72879,CAC03569,EAW63150,EAW63151,EAW63152,EAW63153,AAD55765,CAA04935,CAA04936 Hs.241407 GDB:700763 HUR7|MGC126870|PI13|headpin serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 13 protein-coding 1343432 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 1580863 7499264,17696882,17657675,17567994,17267840,17141398,16923810,16459332,16214170,16113755,15887231,15767426,15500643,15489334,14653443,12944478,12883638,12682008,12578825,11949838,12477932,12105855,11929770,10438806,10393034,10391209,10368272,9892694,9846056,9780231,9268635,8388810,8152607,7867722,7506655,3496414,3325828,3257578,3029122,2845977,2799763,2494165,2471561,2303256,2166055,2161846,1286667,16189514 5055 NM_002575,AC072051,CH471096,M23092,M24657,M31546,M31547,M31548,M31549,M31550,M31551,BC012609,CR594634,CR599277,CR604199,CR616092,CR626822,DQ656059,J02685,J03603,M18082,Y00630,A21238,A21254,A32415 NP_002566,EAW63160,EAW63161,AAA60005,AAA60348,AAA36797,AAH12609,AAA36413,AAA60004,AAA60006,CAA68666,P05120,Q6LDR6,CAA01535,CAA01539,CAA02099,ABM83793,ABM87115 Hs.594481 GDB:120298 HsT1201|PAI|PAI-2|PAI2|PLANH2 protein-coding 1342655 SERPINB2L1 SERPINB2-like 1 5056 1351967 SERPINB2L2 SERPINB2-like 2 5057 1346118 SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3 1580863 17353931,7724531,18155162,18078639,17523076,16701102,16681421,15906357,15902720,15733534,15677460,15489334,15001834,14993646,14970861,14719077,14654899,12975381,12949073,12874860,12820321,12773976,12477932,11267667,10956412,10653592,9548757,9373149,8125298,2840187,2208001,1958219,16189514 6317 AB034984,AC069356,CH471096,U19562,U19568,AB046399,AF428135,AF428136,AF428137,AF428138,AF428139,NM_006919,AF461146,AJ515706,AK222746,AK222753,AY190327,AY245778,AY245781,BC005224,BC008483,BT006748,S66896,U19556 ABM92177,ABM84648,NP_008850,BAB21524,EAW63156,EAW63157,AAA86316,AAA86317,BAB40772,AAQ04218,AAQ04219,AAQ04220,AAQ04221,AAQ04222,AAQ04770,CAD56658,BAD96466,BAD96473,AAO11731,AAO92269,AAO92272,AAH05224,AAP35394,AAB20405,AAA97552,P29508,Q5K634,Q5K684,Q9BYH9 Hs.227948 GDB:625364 HsT1196|SCC|SCCA-1|SCCA-PD|SCCA1|T4-A protein-coding 1351173 SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4 1580863 17353931,7589435,9931463,18097581,17016656,16820864,16549498,16344560,16211231,15677460,15489334,14970861,14630915,12702576,12477932,12437110,11267667,10956412,10852705,10653592,9828132,8889548,7724531,16189514 6318 NM_002974,AB005548,AB035089,AC069356,CH471096,U19576,AB046400,AF461147,AK292212,AY245780,AY245782,BC008399,BC017401,BU676816,DB118691,U19557,X89015 NP_002965,BAA75462,BAB21525,EAW63154,EAW63155,AAA92602,BAB40773,AAQ04771,BAF84901,AAO92271,AAO92273,AAH17401,AAA97553,CAA61420,O95740,P48594,Q5K633,Q86W03,Q86W05,Q9BYF7,ABM83720,ABM87040 Hs.123035 GDB:636556 LEUPIN|PI11|SCCA-2|SCCA1|SCCA2 protein-coding 69089 SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5 1580863 8290962,18234645,18091326,18091325,18042077,17490717,17458898,17446556,17301947,17203770,17203179,17189399,16936308,16892558,16720730,16633061,16614520,16604823,16540429,16491398,16329135,16304843,16227634,16203989,16049007,16049006,16007219,15907209,15760906,15731774,15713631,15688005,15620951,15608662,15578720,15501821,15492782,15353310,15309707,15256060,15197584,15145521,15009909,14991928,14761935,14743202,14732229,14716296,14670180,14578190,14534696,14532972,12969792,12964023,12799381,12789271,12786889,12753703,12644823,12629351,12533266,12477932,12425757,12384513,12366809,12231537,12220518,12127964,12037665,11969337,11788595,11751384,10828881,9433491,9389773,7797587,7724531 5268 NM_002639,AC036176,CH471096,AL602439,BC020713,BM955647,BX640597,CV575332,U04313 NP_002630,EAW63145,EAW63146,EAW63147,EAW63148,AAH20713,CAE45703,AAA18957,P36952,Q6N0B4,Q8WW89 Hs.55279 GDB:304671 PI5|maspin serine (or cysteine) proteinase inhibitor, clade b, member 5 protein-coding 1348161 SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6 1302731,1580863 8415716,17761692,16175637,15489334,14702039,14670919,12477932,12107413,11745444,10463585,9858835,9851866,8662739,8636153,8486644,8408007,8136380,7601482,7548163,16189514 1302731 5269 NM_004568,AL133351,CH471087,AB209563,AF116727,AK027149,AK057138,AK094983,AK098566,AK122895,AK122961,AK128637,BC001394,BC098564,BI259189,BI827451,BM789272,BX538343,CD674931,Z22658 NP_004559,CAI23291,CAI23292,EAW55097,EAW55098,EAW55099,EAW55100,EAW55101,EAW55102,EAW55103,EAW55104,EAW55105,EAW55106,BAD92800,AAO15303,AAH01394,AAH98564,CAD98106,CAA80373,P35237,Q59F97,Q7Z2Y7,Q8IXH2,Q9UDI7,ABM86293,ABW03799 Hs.519523 GDB:252025 CAP|DKFZp686I04222|MGC111370|MSTP057|PI6|PTI|SPI3 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 6 protein-coding 736732 SERPINB7 serpin peptidase inhibitor, clade B (ovalbumin), member 7 1580863 9710452,18471408,16796905,16550745,16431886,15788472,15489334,15342556,15213261,12477932,12397041,12386281,11527413,9182567 8710 NM_001040147,NM_003784,AC069356,AC072051,CH471096,AF027866,AK290673,AK290876,BC069417,BC069442,BC069547,BC106743,BC106744,BC117512,BP332064,BX641156,CD701612,D88575 NP_001035237,NP_003775,EAW63159,AAC64506,BAF83362,BAF83565,AAH69417,AAH69442,AAH69547,AAI06744,AAI06745,CAE46069,BAA31232,O75635,Q6MZG5 Hs.138202 GDB:9956714 DKFZp686D06190|MEGSIN|MGC120014|MGC120015 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 7 protein-coding 1320387 SERPINB8 serpin peptidase inhibitor, clade B (ovalbumin), member 8 1580863 8530382,17567994,16493485,12477932,12417609,9442015,9417904,9402754,9268635,8761950,15231068,16189514 5271 NM_198833,NM_002640,NM_001031848,AC009802,CH471096,AL708543,BC034528,BE566411,BG611734,BQ435307,BX280409,BX571754,CA445967,DQ656055,L40377,U92984 NP_942130,NP_002631,NP_001027018,EAW63163,EAW63164,EAW63165,AAH34528,CAE11879,AAC41939,P50452,Q7Z2V6,Q8N178 Hs.368077 GDB:599392 CAP2|PI8 protein-coding 1318666 SERPINB9 serpin peptidase inhibitor, clade B (ovalbumin), member 9 PI9 belongs to the large superfamily of serine proteinase inhibitors (serpins), which bind to and inactivate serine proteinases. These interactions are involved in many cellular processes, including coagulation, fibrinolysis, complement fixation, matrix remodeling, and apoptosis (Sprecher et al., 1995 [PubMed 8530382]).[supplied by OMIM] 1580863 8910377,16130169,18191723,17479112,17077322,16310039,16306080,16267761,16169070,16144945,15531453,15494398,15489334,15458434,12517944,12477932,12036886,11856484,11719590,11485349,11207275,10681578,10477277,9858835,8530382,16189514 5272 NM_004155,AL133351,CH471087,AB060690,BC002538,BT006673,BX640606,CR407627,CR613727,CR616287,L40378,U71364 NP_004146,CAI23290,EAW55093,EAW55094,EAW55095,BAB91078,AAH02538,AAP35319,CAE45712,CAG28555,AAC41940,AAC50793,P50453,Q6N0A8,ABM81700,ABM84860 Hs.104879 GDB:599393 CAP-3|CAP3|PI9 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), member 9 protein-coding 1351541 SERPINBP1 serpin peptidase inhibitor, clade B (ovalbumin) pseudogene 1 10644448 11029 NG_002645,AL031963 GDB:9956205 PI8L1|SERPINB11 serine (or cysteine) proteinase inhibitor, clade b (ovalbumin), pseudogene 1 pseudo 1316583 SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1580118,1580119,1580122,1599331,1599321,1599323,1599326,1599332,1599333,1599337,1599327,1599330,1580863 12138164,12878203,12907439,14718574,18208532,18056677,17849067,17597998,17492649,17413759,17244682,16973611,16940049,16908819,16796563,16705712,16542481,16335952,16263699,15978566,15733967,15630491,15630490,15338392,15164384,15140129,15084671,14532267,14347873,12894857,12695507,12595305,12556442,12477932,12466122,12369826,12353073,14760718,14652650,12193972,11927130,11861278,11854268,11794707,11754060,11713457,11686319,11686316,10997988,10974350,10809774,10361121,9845533,9761669,9759613,9428387,9405673,9157604,9067613,9031473,8664906,8486379,8476848,8443391,8274732,8236149,8087553,7994035,7989582,7981186,7959685,7878627,7832187,7749926,7656006,7599134,7238875,6833231,6693405,6672771,6636045,6582486,6572945,6305982,6298709,6096369,3979120,3805013,3800906,3605071,3472589,3360140,3191114,3179438,3169232,3162733,3080419,3055413,2998880,2991253,2917133,2794060,2781509,2615648,2602168,2544589,2365065,2229057,2126464,2093312,2013320,2012760,1998601,1977621,1932746,1906811,1873224,1873223,1868237,1808766,1602151,1555650,1551681,1547341,1483709,1421387,1325679,1315572 1580118,1580119,1580122,1599331,1599321,1599323,1599326,1599332,1599333,1599337,1599327,1599330 462 NM_000488,AB083701,AB083703,AB083704,AB083707,AF386078,AL136170,CH471067,CQ975467,L00190,M21642,M21643,M21644,M21645,U11270,X00237,X00238,X03203,X03204,X68793,AF130100,BC022309,CR619869,D29832,H65301,R84868 NP_000479,BAC21173,BAC21174,BAC21175,BAC21176,AAK60337,CAI19423,EAW90969,EAW90970,EAW90971,CAI45858,AAB40025,AAA51796,AAA51793,AAA51794,AAA51795,AAA19930,CAA25059,CAA25060,CAA26951,CAA26952,CAA48690,AAG35525,AAH22309,BAA06212,P01008,Q5TC78,Q7KYY4,Q7KZ97,Q8IZZ8,Q8IZZ9,Q8J000,Q8J001,Q8TCE1,Q9UBW9,Q9UE54,Q7KYQ5 Hs.75599 GDB:119024 AT3|ATIII|MGC22579 serine (or cysteine) proteinase inhibitor, clade c (antithrombin), member 1 protein-coding 732320 SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. 1580300,1580301,1580303,1580304,1580863 14718574,18383370,16981704,16339402,16335952,15543340,15461802,15342556,15337701,15292227,15247982,12477932,12361205,12169660,12152684,12095635,11856753,11846800,11323006,10391209,9373149,8562924,8125298,7545318,3907702,3782093,3755044,3379101,3003690,2894851,2841345,2760054,2647747,2552799,2318847,2104620,1985958,1939083,1836773,1671335,16189514 1580300,1580301,1580303,1580304 3053 NM_000185,AC007308,CH471176,M33660,M58600,AK225292,BC035028,BP237845,CR456573,CR593482,M12849,X03498 NP_000176,EAX02941,EAX02942,AAA36185,AAA52641,AAH35028,CAG30459,AAA52642,CAA27218,P05546,Q8IVC0,CAK54603,CAK54902,ABM82129,ABM85312 Hs.474270 GDB:120038 D22S673|HC2|HCF2|HCII|HLS2|LS2 leuserpin-2 protein-coding 69014 SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1580127,1580126,1580190,1580131,1580123,1624959,1580132,1580863 12114510,12808446,16272158,2503541,2544876,9207454,14718574,18463321,18459951,18454324,18423526,18393255,18383878,18362590,18341631,18318764,18307986,18285546,18284606,18278185,18276785,18263635,18239151,18208536,18182917,18180317,18173921,18160602,18160589,18160588,18096824,18078928,18075282,18064331,18058192,18057060,18037477,18024289,18023202,17992643,17986506,17985503,17975760,17972336,17949955,17932317,17922472,17903340,17899094,17895116,16228848,16210568,16202290,16179568,16172807,16172282,16160004,16154434,16151016,16148154,16130596,16123492,16113755,16102886,16102055,16086925,16082623,16061406,16043164,16039281,16037259,16020771,15990085,15978119,15952129,15939070,15935835,15935832,15920032,15916851,15915389,15907980,15905170,15886801,15885322,15879922,15869613,15869597,15853833,15843979,15842353,15841306,15837947,15831362,15831288,15827742,15824541,15823189,15820782,15780823,15772559,15718495,15716278,15678273,15677734,15674349,15673060,15659127,15646834,15634264,15630497,15613047,16014034,15994914,15611593,15588467,15575342,15554360,15528457,17890953,17884148,17882266,17877801,17804466,17786291,17765897,17761618,17723126,17721742,17721610,17719307,17702963,17697137,17696882,17690487,17689414,17689411,17681507,17676631,17671042,17661167,17657675,17656680,17656673,17649957,17642204,17641264,17616807,17608581,17604327,17601881,17593467,17581326,17578681,17559626,17555513,17549383,17549286,17541549,17540775,17523079,17513622,17495595,17473577,17473573,17469143,17467713,17456624,17433639,17408411,17397908,17388801,17379280,17356550,17351368,17328891,17322633,17320454,17309181,17299841,17276980,17269998,17263760,17259369,17258797,17257155,17230042,17221326,17207964,17201588,17201153,17200772,17199731,17187779,17182940,17179821,17172275,17161063,17160433,17126831,17126795,17126309,17119035,17111197,17107352,17100732,17100549,17080225,17063752,17062678,17044080,17036337,17018527,17006922,17005586,16998253,16963292,16945123,16938111,16931622,16926677,16914534,16902162,16896567,16883539,16879223,16879222,16857194,16855181,16845248,16839401,16828203,16816071,16796899,16789641,16776623,16735791,16730474,16713670,16713569,16706983,16703752,16676078,16635210,16622840,16603315,16601834,16569320,16567932,16546843,16508752,16507937,16502012,16496609,16483878,16472842,16466010,16458133,16456100,16444434,16424345,16423881,16416371,16409470,16409202,16395714,16369102,16365142,16356191,16353042,16331557,16321247,16307159,16279946,16274483,16270643,16237647,15516780,15515049,15494412,15493875,15489334,15481848,15372465,15353919,15351855,15333048,15333035,15328163,15321757,15315974,15313160,15309528,15300646,15292349,15243126,15234427,15218974,15217907,15213845,15198928,15194475,15191349,15183748,15175025,15170393,15149846,15146197,15131125,15121769,15120696,15119966,15116265,15116245,15109703,15105509,12745435,12743121,12734779,12719278,12716314,12709053,12708473,12707042,12701125,12700666,12694181,12694180,12694086,12686544,12684636,12670745,12669121,12660488,12642587,12632020,12615788,12601637,12597520,12589088,12556967,12556966,12524082,12518110,12514663,12508941,12506026,12499900,12490312,12477941,12477932,12468767,11934213,11928807,11909993,11908512,11877282,11864708,11858480,11858184,11849662,11836675,11829481,11825444,11816722,11816707,11816701,11809921,11796824,11796716,11780311,11776328,11748101,11738073,11734664,11592048,11558839,11525425,11522017,11485022,11457467,11457466,11454529,11427204,11418606,11397722,11385207,11384978,11347834,11332466,11289708,11266465,11260416,11168509,11113116,11091191,11037896,10967118,10783396,10739390,10737800,10731421,10543954,10391209,10368279,10209959,9634700,9202242,9194591,9143604,9065424,8830783,8607113,8455210,8344937,7892190,7592875,7552714,7523444,7522053,11979351,11972486,7521069,7479001,3262512,3132455,3097076,3092219,3090045,3026837,3025016,2891140,2840665,2820474,2612914,2430793,15096570,15090858,15087600,15079805,15067375,15051600,15039136,15009482,15001579,14983227,14983219,14983218,14983217,14977839,14963283,14963043,14769027,14746139,14744782,14742985,14706682,14699709,14675098,14669168,14668616,14656894,14653443,14653439,14652637,14642142,14642005,14631138,14629474,12446192,12438962,12437099,12431476,12428096,12406875,12390531,12362314,12362251,12356300,12353306,12353079,12223472,12218297,12187010,12181379,12167592,12141403,12140748,12124797,12123491,12123488,12110504,12107743,12091343,12090757,12086154,12082592,12064834,12063175,12057695,12038776,12032637,12027469,12006921,11981424,14629464,14623266,14605330,14597935,14597244,14592559,14585904,14581151,14550286,14515194,14515181,14508198,14500731,12960956,12958610,12911596,12902511,12899665,12888867,12876625,12876623,12871600,12867763,12859287,12857431,12856717,12856128,12853948,12833632,12833173,12816904,12811828,12802648,12801613,12783120,12765340,12761670,12748347,2339362,2161846,2110366,1870265,1731226,1435917,1339823,9184208,16189514 1580127,1580126,1580190,1580131,1580123,1624959,1580132 5054 NM_000602,AC004876,AF386492,CH471197,J03764,M22313,M22314,M22315,M22316,M22317,M22318,M22319,M22320,M22321,X13338,X13339,X13340,X13341,X13342,X13343,X13344,X13345,BC005927,BC010860,BC020765,BF351821,C00767,CN309001,CN309016,CR603052,CR605271,CR605789,CR614829,CR622616,CR625802,M14083,M16006,X04429,X04729,X04731,X04744,X12701 NP_000593,AAD45828,AAK60338,EAW50195,EAW50196,EAW50197,AAA60007,AAA60009,CAA31722,CAB51639,CAB51737,CAB51606,CAB51607,CAB51738,CAB51739,CAA31729,AAA60008,AAA60003,CAA28025,CAA28438,CAA28442,CAA28444,CAA31208,P05121,ABM81620,ABM84803,AAH10860 Hs.414795 GDB:120297 PAI|PAI-1|PAI1|PLANH1 1643388,1643401 BW321_H,BMD1_H protein-coding 70076 SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 1580863 15340161,12859287,12477932,12356769,12106474,11925594,9373149,8125298,8006028,7729568,7665170,3427015,1334458,9184208,16189514,3997857,2877744,17446335,17379830,16921128,16741952,16358219,16085935,16015279,15489334 5270 NM_006216,AC073641,CH471063,AK225823,BC015663,BC042628,CR592106,CR592428,CR592548,CR604360,CR623305,CR625696,M17783,A03911 NP_006207,AAY14926,EAW70821,EAW70822,EAW70823,EAW70824,AAH15663,AAH42628,AAA35883,P07093,Q53S15,Q5D0C4,CAA00310,ABM84117,ABM84610,ABM84611,ABM87515,ABM87861,ABM87862 Hs.38449 GDB:378380 GDN|PI7|PN1|PNI serine (or cysteine) proteinase inhibitor, clade e (nexin, plasminogen activator inhibitor type 1), member 2 protein-coding 1342519 SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 1580135,1580863 8473338,11562499,8226833,12737624,18312852,18226801,18180304,18084848,17870167,17658465,17604022,17593873,17525281,17479108,17213275,17202143,17188371,17081065,16896539,16797605,16777976,16740777,16707486,16596284,16409998,16335952,16322471,16289162,16196102,16102727,15994443,15856012,15846509,15713745,15489334,15377265,15374885,15239109,15150108,15140209,15096582,14991838,12920663,12878936,12860293,12837042,12827055,12711260,12687338,12670505,12621583,12603315,12599204,12477932,12237317,12200129,11438800,10531367,10398730,10398599,9692954,9238088,8977492,8889548,8434014,8188257,7592790,7566098 1580135 5176 CR602559,CR603189,CR603443,CR605639,CR607676,CR608705,CR608766,CR612579,CR616341,CR617675,CR617941,CR620288,CR622036,CR625398,CR626499,M76979,M90439,W22661,CR602052,NM_002615,AC130343,AC130689,CH471108,U29953,U57450,AA351026,AA658568,AF400442,AY513280,BC000522,BC013984,BM981180,BQ773314,BT007222,BU154385,CA405781,CR591530,CR592475,CR592815,CR594081,CR594378,CR596861,CR597983,CR599790,CR599792,CR601477,CR601478 AAA60058,AAA93524,P36955,Q2TU83,NP_002606,EAW90577,AAA84914,AAB38685,AAK92491,AAT08033,AAH00522,AAH13984,AAP35886 Hs.532768,Hs.694727 GDB:138470 EPC-1|PEDF|PIG35 protein-coding 1315455 SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 1580302,1580303,1580304,1625535,1625530,1625532,1625537,1625538,1625531,1625536,1580863,1625529,1625533,1625534 12878203,14687906,7306699,14718574,18048863,17961166,17890952,17883703,17388801,17317851,17203182,16828203,16335952,14751930,12911586,12621583,12549929,12477932,12080056,11604408,11074138,10963790,10958788,10583218,9428387,9368023,9169621,9042371,8889548,8703832,8647939,8624776,8611456,7873202,7095605,6980881,3818581,3416655,3334852,3166140,2958938,2830248,2572590,2456616,2440681,2437112,2434496,2433286,1577485,1385210,158022,134998,21075,10570951 1580302,1580303,1580304,1625535,1625530,1625532,1625537,1625538,1625531,1625536,1625529,1625533,1625534 5345 NM_000934,AC130343,CH471108,M20786,BC031592,BX107460,CK300825,CR617307,D00116,D00174,J02654 NP_000925,EAW90578,EAW90579,EAW90580,EAW90581,AAA51554,AAH31592,BAA00070,BAA00124,AAA35543,P08697,Q8N5U7,Q9UCG2,Q9UCG3,ABM81722,ABM84877 Hs.159509 GDB:120301 A2AP|AAP|ALPHA-2-PI|API|PLI serine (or cysteine) proteinase inhibitor, clade f (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 protein-coding 1344082 SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. 1302854,1600545,1580863 1363816,2365061,2563376,3965505,14718574,18035804,17976427,17916775,17908769,17709141,17521609,17502473,17498209,17488724,17230419,16617246,16335952,15971231,15879149,15607116,15596403,15596402,15583734,15489334,15356570,15325085,15096536,14760718,14635117,14568956,12773530,12754519,12539042,16470590,16409206,12492481,12477932,12421980,12123444,11933207,11460008,11437612,10946292,9882449,9234243,8755917,8529136,8172583,7883978,7814636,7749926,7586269,6980881,6604523,6416294,6282262,3756141,3587308,3488058,3458172,3393514,3295045,3267220,3178731,3089875,2723063,2478116,2323781,2296585,2154751,2118657,2026152,1885769,1684567,1531292,1451784,1339401,10570951 1302854,1600545 710 CR610016,CR612050,CR612675,CR612737,CR613065,CR614264,CR614379,CR614595,CR615596,CR619147,CR619152,CR620172,CR620983,CR621088,CR621653,CR626630,CR626631,M13203,M13656,M13690,M14036,X07577,NM_000062,NM_001032295,AF435921,AP000662,AP002893,AY904027,CH471076,M30688,S76944,X07427,X54486,AB209826,AK293054,AL703442,AY732485,AY732486,BC011171,BQ183346,BT006966,CR590689,CR590941,CR591439,CR594035,CR600380,CR603289,CR604184,CR606235,CR607756,CR608695 AAA51849,AAB59387,AAA35613,AAA51848,CAA30469,P05155,Q16304,Q5UGI5,Q5UGI6,NP_000053,NP_001027466,AAM21515,AAW69393,EAW73762,EAW73763,EAW73764,AAA53096,AAB33044,CAA30314,CAA38358,BAD93063,BAF85743,AAV33124,AAV33125,AAH11171,AAP35612,Q9UC49,Q9UCF9,ABM82725,ABM85908 Hs.384598 GDB:119041 C1IN|C1INH|C1NH|HAE1|HAE2 serine (or cysteine) proteinase inhibitor, clade g (c1 inhibitor), member 1, (angioedema, hereditary) protein-coding 732731 SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. Its expression is induced by heat shock. The protein localizes to the endoplasmic reticulum lumen and binds collagen; thus it is thought to be a molecular chaperone involved in the maturation of collagen molecules. Autoantibodies to this protein have been found in patients with rheumatoid arthritis. 1580863,737815 7656593,10023073,15308636,18293509,18205191,18095990,18093617,16938879,16484215,16396496,16326708,16171977,15955241,15806139,15635413,15489334,15389525,15247019,15225209,15047128,14702039,12824005,12659832,12477932,12475206,12174873,12163502,12145293,12061838,11994473,11748222,11572868,11162551,11106745,11052465,10862616,10506936,10227388,9588174,9533029,9272875,16189514,1309665 737815 871 BC036298,BC070087,BT007094,CB123399,CR590010,CR590021,CR590753,CR591232,CR599889,CR601955,CR606479,CR608913,CR613632,CR613876,CR615584,CR615994,CR620506,CR622404,CR622741,CR623052,CR625032,D83174,X61598,NM_001235,AB044780,AB044781,AP001922,AP002815,CH471076,AB044778,AB044779,AI926019,AK075504,AK094047,AK122936,AK130870,AK131503,AK290124,AY264853,AY744367,BC014623 AAH36298,AAH70087,AAP35758,BAA11829,CAA43795,P50454,Q6ZMS8,Q9NPA9,AAH14623,NP_001226,BAA96790,BAA96791,EAW74974,EAW74975,EAW74976,EAW74977,EAW74978,EAW74979,BAA96788,BAA96789,BAD18647,BAF82813,AAP93914,AAU95378 Hs.596449 GDB:129094 AsTP3|CBP1|CBP2|HSP47|PIG14|PPROM|RA-A47|SERPINH2|gp46 serine (or cysteine) proteinase inhibitor, clade h, member 1 protein-coding 1351755 SERPINHP1 serpin peptidase inhibitor, clade H, pseudogene 1 737815 10023073 737815 158172 NG_006020,AB010273,AL353662 bA571F15.6|pshsp47 pseudo 731505 SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1 This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863 10517635,9407089,16189514,9070919,18051703,17961231,17606885,17212813,16849336,16344560,15664988,15489334,15291813,15269833,15090543,14983220,12477932,12354288,12228252,12103288,11880376,10992299 5274 NM_005025,NM_001122752,AC026353,AC079822,AF248246,CH471052,CS208019,AK290082,BC018043,BQ086144,CR627434,DA270615,DA359846,Z81326 NP_005016,NP_001116224,AAG01089,EAW78571,EAW78572,EAW78573,CAJ44935,BAF82771,AAH18043,CAH10520,CAB03626,Q99574 Hs.478153 GDB:700762 DKFZp781N13156|PI12|neuroserpin serine (or cysteine) proteinase inhibitor, clade i (neuroserpin), member 1 protein-coding 737028 SERPINI2 serpin peptidase inhibitor, clade I (pancpin), member 2 The protein encoded by this gene is a member of the serine protease inhibitor (serpin) superfamily made up of proteins which play central roles in the regulation of a wide variety of physiological processes, including coagulation, fibrinolysis, development, malignancy and inflammation. The gene product may have a role in a growth-control, possibly growth-suppressing pathway and, when impaired, may be involved in pancreatic carcinogenesis. The protein is a member of the plasminogen activator inhibitor-1 family, a subset of the serpin superfamily whose members act as tissue-specific tPA inhibitors. Two alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. 1580863 10097100,16713569,16189514,12477932,10992299,9624529,9373149 5276 O75830 AK226025,BC027859,BX496933,NM_006217,AC107311,CH471052,AB006423,AF130470 AAH27859,O75830,NP_006208,EAW78587,BAA33766,AAD34723 Hs.445555 GDB:700764 MEPI|PANCPIN|PI14|TSA2004 protein-coding 1353244 SERTAD1 SERTA domain containing 1 1580863 6434876,16713569,16303743,16201750,16189514,15489334,15065884,14675634,12736710,12477932,11331592,10580009,9373149,8125298 29950 NM_013376,AC010271,AY130860,CH471126,CQ783536,CS072423,AA928491,AF117959,AF366402,AK074652,AK222970,AK223011,BC002670 NP_037508,AAM77800,EAW56964,EAW56965,CAF86711,CAI93561,AAF08349,AAK52831,BAD96690,BAD96731,AAH02670,Q53GC0,Q9UHV2,ABM83919,ABM87240 Hs.269898 SEI1|TRIP-Br1 protein-coding 1350169 SERTAD2 SERTA domain containing 2 1580863 16098148,15815621,15489334,12477932,11331592,8590280 9792 NM_014755,AC007365,CH471053,BC074788,BC074789,BC101639,BC101641,D50917 NP_055570,AAY14766,EAW99935,AAH74788,AAH74789,AAI01640,AAI01642,BAA09476,Q14140,ABZ92282 Hs.693696 MGC126688|MGC126690|Sei-2|TRIP-Br2 protein-coding 1603398 SERTAD3 SERTA domain containing 3 The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. 16189514,16098148,17260023,15489334,12477932,11331592,10982866 29946 NM_203344,NM_013368,AC010271,CH471126,CQ783944,AF192529,AK074604,BC014061,BC050643,CR601245,CR605181 NP_976219,NP_037500,EAW56966,EAW56967,EAW56968,CAF86937,AAF05761,AAH14061,AAH50643,Q9UJW9 Hs.515412 RBT1 protein-coding 1351903 SERTAD4 SERTA domain containing 4 737633 14702039,12477932 737633 56256 NM_019605,AL035414,CH471100,AK096381,BC012083,CR605084 NP_062551,CAB81635,EAW93431,EAW93432,EAW93433,AAH12083,Q9NUC0,ABM84559,ABM86456 Hs.708143 DJ667H12.2 protein-coding 1316757 SESN1 sestrin 1 1580863 9926927,15105503,14702039,12607115,12477932,7938006 27244 NM_014454,AL355305,AL390208,CH471051,AF033120,AF033121,AF033122,AJ420599,AK001886,AK290157,AK290551,AL133559,BC112036,BC113569 NP_055269,CAI14558,CAI16718,CAI16719,CAI16720,EAW48367,EAW48368,AAD04810,AAD04811,AAD04812,BAA91961,BAF82846,BAF83240,AAI12037,AAI13570,Q2M2B7,Q5T316,Q5T317,Q5T318,Q9Y6P5 Hs.591336 MGC138241|MGC142129|PA26|RP11-787I22.1|SEST1 protein-coding 1346813 SESN2 sestrin 2 This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. 1580863 11256614,15489334,15105503,14702039,12607115,12477932,12203114,11230166 83667 NM_031459,AL353622,CH471059,AK025640,AK027896,AL136551,AY123223,AY538253,BC013304,BC033719,BI912024,CR601369 NP_113647,CAI19133,EAX07703,BAB55438,CAB66486,AAM92261,AAH13304,AAH33719,P58004,Q5T7D0,ABM83753,ABM87072 Hs.469543 DKFZp761M0212|DKFZp761M02121|HI95|SES2|SEST2 protein-coding 1319828 SESN3 sestrin 3 1580863 15489334,14702039,12607115,12477932 143686 NM_144665,AP000787,CH471065,AF086251,AF086504,AK096300,BC017296 NP_653266,EAW66959,EAW66960,BAC04754,AAH17296,P58005 Hs.659934 MGC29667|SEST3 protein-coding 1349123 SESTD1 SEC14 and spectrin domains 1 14702039,12837271,12477932 91404 NM_178123,AC016755,AC093911,CH471058,AK057944,AK096232,AL122046,AY209190,BC029744,BC047578,BC053862 NP_835224,AAY24323,AAY24093,EAX11010,BAB71618,CAB59182,AAP47744,AAH29744,AAH47578,AAH53862,Q7Z6D3,Q86VW0,Q9UFF8 Hs.591613 GDB:11508960 DKFZp434O0515|SOLO protein-coding 1316679 SET SET nuclear oncogene 1580863 15489336,15489334,15342556,15173575,15164053,15146197,15136563,14759373,14671643,14612398,12628186,12524539,12477932,12444089,12407107,12107410,11978794,11909973,11741927,11565755,11231286,11163245,11076863,11073993,11018049,9773788,9373149,9353299,8294483,8192856,8131851,8125298,17353931,11555662,8626647,7753797,1630450,18374643,18096310,17875674,17868381,17620317,17608644,17529993,17360516,17296573,17245428,17081983,17034827,17008916,16916647,16861234,16823850,16381901,16286244,16189514,16061203,15931263,15930275,15642345,15556635 6418 BC032749,BP343325,BQ774097,CA392072,CB129868,CN408133,CR536543,CR542050,CR594714,CR595023,CR602404,CR604929,D45198,EF534308,M93651,U51924,X75091,BC014567,NM_003011,NM_001122821,AL356481,AL359678,CH471090,AK223556,AY349172 AAH32749,CAG38780,CAG46847,BAA08139,ABP96841,AAA60318,AAC50460,CAA52982,Q01105,NP_003002,NP_001116293,CAH71408,CAH71409,CAH71410,EAW87818,EAW87819,EAW87820,EAW87821,EAW87822,EAW87823,BAD97276,AAQ79833,Q5VXV2,Q5VXV3,CAL37598,CAL37620,CAL37900,CAL38053,CAL38324,ABM85334,ABW03714 Hs.436687,Hs.596814 GDB:9837392 2PP2A|I2PP2A|IGAAD|IPP2A2|PHAPII|TAF-I|TAF-IBETA protein-coding 1314725 SETBP1 SET binding protein 1 1580863 16582916,14718574,12477932,12168954,11231286,9455477 26040 NM_015559,AC015954,AC021766,AC090376,AC105074,AC120049,CH471088,AB007897,AB022660,BC062338,BC146776 NP_056374,EAX01441,BAA24826,BAA82444,AAH62338,AAI46777,Q6P6C3,Q9Y6X0 Hs.435458 GDB:11507805 KIAA0437|SEB protein-coding 1605414 SETD1A SET domain containing 1A SET1A is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. The complex is the analog of the S. cerevisiae Set1/COMPASS complex (Lee and Skalnik, 2005 [PubMed 16253997]). Also see SET1B (MIM 611055).[supplied by OMIM] 15489334,12670868,17998332,17578910,17081983,16253997,12477932,9205841 9739 NM_014712,AC135048,AB002337,BC027450,BC035795 NP_055527,BAA20797,AAH27450,AAH35795,O15047 Hs.297483 KIAA0339|KMT2F|Set1|Set1A protein-coding 1602124 SETD1B SET domain containing 1B SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM] 17355966,12477932,10470851 23067 XM_037523,XM_001719079,XM_001715003,AC079360,AC084018,AB028999,AK000810,BC047909,BC080192,CR598662 XP_037523,XP_001719131,XP_001715055,BAA83028,Q9UPS6 Hs.507122 FLJ20803|KIAA1076|KMT2G|Set1B protein-coding 1602894 SETD2 SET domain containing 2 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. 17081983,16713569,16314571,16118227,15489334,15302935,14702039,12477932,11461154,11214970,11042152,10958656,9700202 29072 AK131371,AL049470,AL713692,AL831959,AL833394,AY576987,AY576988,BC072440,BC090954,BC117162,BC117164,BF437034,BX649110,CR604129,NM_014159,AC094020,AC127430,CH471055,AB051519,AF049103,AF049610,AF161554,AJ238403,AK026125,AK026837,AK091413,AK095494,AK127782 BAC87131,BAD18522,CAD28492,CAD38601,CAH10589,AAT77612,AAT77613,AAH72440,AAH90954,AAI17163,AAI17165,Q9BYW2,NP_054878,EAW64805,EAW64806,EAW64807,EAW64808,EAW64809,EAW64810,EAW64811,BAB21823,AAC26194,AAC26846,AAF29041,CAC28349,BAB15367 Hs.517941 FLJ16420|FLJ22472|FLJ23184|FLJ45883|HIF-1|HSPC069|HYPB|KIAA1732|KMT3A protein-coding 1319950 SETD3 SET domain containing 3 16094384,15489334,14702039,12477932,11329013 84193 NM_032233,AL132819,CH471061,AK026680,AL359581,BC009054,BC037395,BC066931,BC120967,BC120968,BC127624,BC127625,NM_199123,AL110504,BC142995,BC148251,BG194029,BX161441,BX161471,CB988965,CR598580 NP_115609,EAW81664,EAW81665,EAW81666,EAW81667,BAB15525,CAH56365,AAH09054,AAH66931,AAI20968,AAI20969,AAI27625,NP_954574,AAI42996,AAI48252,CAD61911,CAD61927,Q6NXR6,Q86TU7,AAI27626 Hs.510407 C14orf154|DKFZp761E1415|FLJ23027|MGC87236 protein-coding 1353006 SETD4 SET domain containing 4 15489334,14759258,14702039,12477932,11707072,10830953,9740676 54093 NM_017438,NM_001007259,AP000688,CH471079,AB004848,AB004849,AB004852,AB004853,AF391112,AI636385,AK001660,AK095215,AK124254,AK126368,BC002898,BC036556,BF195582 NP_059134,NP_001007260,BAA89424,EAX09756,EAX09757,EAX09758,EAX09759,EAX09760,EAX09761,EAX09762,AAL34503,BAA91819,AAH02898,AAH36556,Q9NVD3,ABZ92338 Hs.606200 GDB:11504697 C21orf18|C21orf27 protein-coding 1605381 SETD5 SET domain containing 5 16641997,15489334,14702039,12477932,11214970,16189514 55209 NM_001080517,AC018506,CH471055,AB051544,AK001569,AK024384,AK025478,AK091393,AK092046,AK094975,AK127298,AK289529,AL442073,BC012558,BC020956,BX648380,CR627408 NP_001073986,EAW63962,BAB21848,BAA91762,BAB14903,BAB15144,BAF82218,CAC09439,AAH20956,CAH10552,CAH10497,Q6AW96,Q9C0A6 Hs.288164 DKFZp686J18276|FLJ10707|KIAA1757 protein-coding 1605343 SETD6 SET domain containing 6 15489334,14702039,12477932 79918 NM_024860,AC009118,CH471092,AK024801,AK127136,AK290495,BC022451,BC110433,CR616142 NP_079136,EAW82980,EAW82981,BAB15011,BAC86845,BAF83184,AAH22451,Q6ZSV1,Q8TBK2 Hs.592060 FLJ21148 protein-coding 1606498 SETD7 SET domain containing (lysine methyltransferase) 7 12514135,15525938,16415881,17646389,17573780,15489334,15099517,12670868,12540855,12477932,12389038,12372304,11850410,11779497,11214970 80854 NM_030648,AC112236,AC114743,CH471056,AB051504,AF448510,AF462150,AK024846,BC012784,BC040990,BC066361,BC110904,BC121055,BC121056,BM922680 NP_085151,AAY40937,EAX05114,BAB21808,AAL56579,AAL69901,AAI21056,AAI21057,Q8WTS6 Hs.480792 FLJ21193|KIAA1717|KMT7|SET7|SET7/9|SET9 protein-coding 1602807 SETD8 SET domain containing (lysine methyltransferase) 8 12086618,8980232,15933069,18166648,17707234,15964846,15933070,15489334,12540855,12477932,12411495,12208845,12121615 387893 NM_020382,AC137767,AC145423,CH471054,AF287261,AK292645,AY064546,AY102937,BC050346,BQ773996,CR597635,CR597775,CR605053 NP_065115,EAW98406,EAW98407,EAW98408,EAW98409,AAF97812,BAF85334,AAL40879,AAM47033,AAH50346,Q9NQR1 Hs.572262,Hs.700682 KMT5A|PR-Set7|SET07|SET8 protein-coding 1641963 SETD8P1 SET domain containing 8 pseudogene 1 12477932,12208845,12086618,9847074 57108 NG_003193,AC005283,AL356585 SET07p|SET7 pseudo 1318101 SETDB1 SET domain, bifurcated 1 The SET domain is a highly conserved, approximately 150-amino acid motif implicated in the modulation of chromatin structure. It was originally identified as part of a larger conserved region present in the Drosophila Trithorax protein and was subsequently identified in the Drosophila Su(var)3-9 and 'Enhancer of zeste' proteins, from which the acronym SET is derived. Studies have suggested that the SET domain may be a signature of proteins that modulate transcriptionally active or repressed chromatin states through chromatin remodeling activities.[supplied by OMIM] 1580863,1359072 11791185,16682412,17577629,17142323,17066076,16713569,16710414,16567619,16169070,16097034,15899859,15691849,15489334,15383276,15327775,15231748,14702039,14611647,14536086,12869583,12477932,12421765,12398767,11959841,10343109,7584044,16189514 1359072 9869 NM_012432,AL590133,CH471121,AK095075,BC009362,BC028671,D31891 NP_036564,CAI13325,CAI13326,CAI13327,CAI13328,CAQ08505,CAQ08506,EAW53503,EAW53504,EAW53505,EAW53506,EAW53507,EAW53508,AAH09362,AAH28671,BAA06689,Q15047 Hs.709227 GDB:9784532 ESET|KG1T|KIAA0067|KMT1E protein-coding 1321179 SETDB2 SET domain, bifurcated 2 Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3 (see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 [PubMed 12754510]).[supplied by OMIM] 1580863 15489334,15057823,12754510,12477932,11306461 83852 NM_031915,AL136218,AL139321,CH471075,AB209349,AF086317,AF334407,AL831937,AL833957,BC017078,BC028202,BC047434,CR608721 NP_114121,CAI10817,CAI10818,CAH71048,EAX08824,EAX08825,EAX08826,BAD92586,AAK38373,CAH56265,CAD38807,AAH17078,AAH47434,Q59FW0,Q8NDJ9,Q96T68 Hs.631789 C13orf4|CLLD8|CLLL8|DKFZp586I0123|DKFZp761J1217|KMT1F protein-coding 1348585 SETMAR SET domain and mariner transposase fusion gene 9461395,18263876,17877369,17403897,17130240,16989604,16672366,16332963,15489334,12477932,9373149,9110174,8619474,8125298,7670491 6419 NM_006515,AC023483,AC034191,CH471055,DQ341316,U52077,AF054989,AK222734,AY952295,BC008931,BC011635,DC357038,U80776 NP_006506,EAW63903,EAW63904,EAW63905,ABC72087,AAC52010,AAC09350,BAD96454,AAY29570,AAH08931,AAH11635,AAC52012,Q53H47,Q96H41 Hs.475300 GDB:9596848 METNASE protein-coding 1343389 SETP2 SET pseudogene 2 326277 NG_002537,AL358332 pseudo 1347866 SETX senataxin This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). 1580863 17562789,18405395,17593543,17096168,17081983,16964243,16717225,15732101,15489334,15164053,15106121,14770181,14702039,12477932,11022012,9734811,9497266,9373149,8889548,8125298 23064 AL159997,AL353701,CH471090,AB014525,AK001456,AK022902,AK024331,AK025601,AK125448,AK226007,AY362728,NM_015046,BC032600,BC032622,BC078166,BC106017,BC137350,BM718142,BX537849,BX538166,CR749249 NP_055861,CAI40857,CAI40858,CAM14151,EAW87997,EAW87998,EAW87999,EAW88000,BAA31600,BAA91701,BAB14299,BAC86166,AAR13367,AAH32600,AAH32622,AAH78166,AAI06018,AAI37351,CAD97857,CAD98045,CAH18105,Q5JUJ0,Q7Z333 Hs.460317 GDB:4204599 ALS4|AOA2|DKFZp781B151|FLJ12840|FLJ43459|KIAA0625|SCAR1|bA479K20.2 amyotrophic lateral sclerosis 4 protein-coding 1320435 SEZ6 seizure related 6 homolog (mouse) 724667 14702039,12477932,12351182,9373149,8125298,7488116,17086543,16344560 724667 124925 NM_178860,NM_001098635,AC024267,AC024619,CH471159,AF502129,AF502130,AK054913,AK055383,AK091522,AK096473,AK125377,AK223620,AL834405,AY038048,BC069260,CR603576,DA123986 NP_849191,NP_001092105,EAW51170,EAW51171,EAW51172,EAW51173,EAW51174,AAM22213,AAM22214,BAB70826,BAB70912,BAC03684,BAD97340,CAD39067,AAK71497,Q53EL9,Q8N701,Q8NB57,Q8ND50,Q8TD25,Q96NI5,Q96NQ3,AAI46293 Hs.21837 GDB:11502911 protein-coding 1344560 SEZ6L seizure related 6 homolog (mouse)-like 1580863 17804757,15489334,15461802,12975309,12529303,11992124,11175339,10591208,10231032 23544 NM_021115,AL022337,AL023513,AL078460,AL080273,CH471095,AB023144,AB041736,AL035545,AL050253,AY358405,BC126115,BM875686,CR456574 NP_066938,CAI19980,CAQ08919,CAQ08920,CAQ08921,CAQ08922,CAQ08923,EAW59711,EAW59712,EAW59713,EAW59714,BAA76771,BAB40970,CAB37431,CAB43355,AAQ88771,AAI26116,CAG30460,Q9BYH1,CAK54604,CAK54903 Hs.194766 GDB:9956541 protein-coding 1606022 SEZ6L2 seizure related 6 homolog (mouse)-like 2 17207965,16344560,16303743,14702039,12975309,12477932 26470 NM_201575,NM_012410,NM_001114099,NM_001114100,AC120114,CH471238,AJ245820,AJ245821,AJ245822,AK027407,AK027676,AK074998,AY358404,BC000567,CR619068,CR622645,DA188718,EL733582 NP_963869,NP_036542,NP_001107571,NP_001107572,EAW79973,CAB57950,CAB57951,CAB57952,BAC11345,AAQ88770,AAH00567,Q6UXD5,Q8NC33,Q9BW82,ABW03462 Hs.6314 FLJ90517|PSK-1 protein-coding 1354478 SF Stoltzfus blood group 5365757,6948764 6420 GDB:119592 1346504 SF1 splicing factor 1 8752089,9660765,7912130,15647371,9731529,17383426,17081983,16964243,16189514,15489334,15456888,15302935,12718882,12477932,12176931,11691992,11604498,11467860,10449420,9573336,9512519,9506990,9192847,9150140,8668206,1406644 7536 CR615439,D26120,D26121,D26122,L49345,L49380,Y08765,Y08766,AJ000052,AP001462,CH471076,BC000773,BC008080,BC008724,BC011657,BC020217,BC032676,BC034451,BC038446,BC069273,BQ230035,BU624935,BX095574,CR600558,NM_004630,NM_201998,NM_201995,NM_201997,AJ000051 Q14820,Q14821,Q15637,BAA05116,BAA05117,BAA05118,BAA05119,AAB03514,AAB04033,CAA70018,CAA70019,EAW74286,EAW74287,EAW74288,EAW74289,EAW74290,EAW74291,EAW74292,EAW74293,EAW74294,EAW74295,EAW74296,EAW74297,AAH00773,AAH08080,AAH08724,AAH20217,AAH38446,NP_004621,NP_973727,NP_973724,NP_973726,CAA03883 Hs.502829,Hs.658141 GDB:320035 D11S636|ZFM1|ZNF162 protein-coding 1322957 SF3A1 splicing factor 3a, subunit 1, 120kDa This gene encodes subunit 1 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 1 belongs to the SURP protein family; named for the SURP (also called SWAP or Suppressor-of-White-APricot) motifs that are thought to mediate RNA binding. Subunit 1 has tandemly repeated SURP motifs in its amino-terminal half while its carboxy-terminal half contains a proline-rich region and a ubiquitin-like domain. Binding studies with truncated subunit 1 derivatives demonstrated that the two SURP motifs are necessary for binding to subunit 3 while contacts with subunit 2 may occur through sequences carboxy-terminal to the SURP motifs. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 10882114,10976766,17353931,15647371,12226669,17081983,15761153,15592455,15527767,15489334,15461802,15456888,15316075,15302935,12477932,12234937,11991638,11533230,11500380,11337467,11101529,10591208,10385517,9847074,9731529,8718683,8022796,7489498,11013263,16189514 10291 NM_001005409,AC004997,CH471095,AI681052,AK098463,AU100212,AV750569,BC001976,BC007684,BF965438,BI827130,BQ212479,BQ223575,BQ437843,BQ447452,CA440158,CR456575,CR610639,CR612753,CR614325,X85237,NM_005877 Q15459,CAK54605,CAK54904,ABM83613,ABM86857,NP_005868,NP_001005409,AAC23435,EAW59878,EAW59879,AAH01976,AAH07684,CAG30461,CAA59494 Hs.406277 GDB:9955873 PRP21|PRPF21|SAP114|SF3A120 protein-coding 1318510 SF3A2 splicing factor 3a, subunit 2, 66kDa This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. 1580863 8211113,15647371,12226669,9731529,15489334,15316075,15231748,15142036,15057824,12477932,12234937,11991638,11602354,11533230,11500380,10882114,10385517,9710584,9576861,9016565,8718683,8541848,8022796 8175 NM_007165,AC005263,CH471139,L21990,BC004434,BC009903,BC015804,BG325385,BQ642367,CR591027,CR591148,CR593621,CR593881,CR596440,CR600654,CR606588,CR608171,CR618008,CR618734,CR619009,CR619415,CR622079,CR623891 NP_009096,AAC25613,EAW69398,EAW69399,EAW69400,EAW69401,EAW69402,EAW69403,EAW69404,AAA60301,AAH04434,AAH09903,AAH15804,Q05DF2,Q15428,ABM87780 Hs.115232 GDB:1381638 PRP11|PRPF11|SAP62|SF3a66 protein-coding 1318668 SF3A3 splicing factor 3a, subunit 3, 60kDa This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. 1580863 17081983,16710414,16189514,15635413,15592455,15489334,15456888,15316075,14559993,12565890,12477932,12234937,11991638,11533230,11500380,10882114,9373149,8889548,8125298,8022796,7816610,17353931,15647371,12226669,9731529 10946 NM_006802,AL603790,CH471059,AI492088,AK026887,AK128438,AK222554,AK291181,AK292116,BC002395,BC011523,BM702776,BM905122,CA443595,CR590005,CR598289,CR599719,CR603079,CR609638,CR610905,CR614728,CR615449,N67022,N91991,U08815 NP_006793,CAH69930,EAX07304,EAX07305,EAX07306,BAD96274,BAF83870,BAF84805,AAH02395,AAH11523,AAA19625,Q12874,Q53HM6,ABM82046,ABW03360 Hs.77897 GDB:9958628 PRP9|PRPF9|SAP61|SF3a60 protein-coding 1342667 SF3A3P1 splicing factor 3a, subunit 3 pseudogene 1 170548 NG_001054,AL109805 GDB:11507807 SF3A3P|dJ581P3.1 splicing factor 3a, subunit 3 pseudogene pseudo 1603800 SF3A3P2 splicing factor 3a, subunit 3 pseudogene 2 449645 NG_004710,AP002765 pseudo 1346641 SF3B1 splicing factor 3b, subunit 1, 155kDa This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 9585501,17353931,12226669,17931603,17081983,16964243,16790528,16376933,15302935,14730023,14702039,12738865,12477932,12234937,12105215,11991638,11500380,10882114,10737800,9110174,8619474,9891079,15146077,15456888,11406595,10490618,9671485,10688664 23451 NM_012433,NM_001005526,AC010746,CH471063,AF054284,AF070540,AF086296,AK057684,AK290470,AL137410,BC015530,BC029418,BC039020,BC046140,BC056155,BC064335,BC107883,BE168220,CD692669,CR596949,CR603673 NP_036565,NP_001005526,EAW70146,AAC97189,AAC28633,BAF83159,CAB70728,AAH15530,AAH29418,AAH56155,AAI07884,O75533,Q32Q20,Q7Z497,Q9NTB4 Hs.632554 GDB:9956573 PRP10|PRPF10|SAP155|SF3b155 protein-coding 1602118 SF3B14 splicing factor 3B, 14 kDa subunit This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. 17353931,12226669,15635413,15592455,15489334,15146077,12738865,12477932,12234937,11500380,11329013,11042152,10931946,10810093 51639 NM_016047,AC008073,CH471053,AF151868,AF161523,AF184213,AF401310,AK000621,BC015463,BG200650 NP_057131,AAY14664,EAX00767,AAD34105,AAF29138,AAG09698,AAK94041,AAH15463,Q53TM1,Q9Y3B4 Hs.177861 CGI-110|HSPC175|Ht006|P14|SAP14|SF3B14a protein-coding 1316185 SF3B2 splicing factor 3b, subunit 2, 145kDa This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. 1580863 11500380,11287586,10882114,10490618,9601606,7958871,16571786,12634307,15146077,11406595,16189514,17353931,8566756,12226669,9731529,17081983,16923959,15635413,15456888,15302935,14651998,12477932,12234937,11991638 10992 AK126488,AK290850,BC000401,BC007610,BC014125,BC051237,BC053577,BE677116,BF311442,BX537771,U41371,NM_006842,AP006287,CH471076 BAC86565,EAW74501,BAF83539,AAH00401,AAH07610,AAH14125,AAH53577,CAD97834,AAA97461,Q13435,Q6ZTM1,Q7L4T5,Q7Z3K9,Q7Z627,Q96CM6,Q9BWD2,NP_006833,EAW74491,EAW74492,EAW74493,EAW74494,EAW74495,EAW74496,EAW74497,EAW74498,EAW74499,EAW74500 Hs.406423 GDB:9958690 SAP145|SF3B145|SF3b1|SF3b150 protein-coding 1323197 SF3B3 splicing factor 3b, subunit 3, 130kDa This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. 1580863 10490618,12029088,17353931,12226669,15489334,15324660,14702039,14559993,12601814,12477932,12234937,11991638,11564863,11500380,11438666,11406595,10428969,8889548,7584028,7584026,11013263,15146077 23450 D87686,NM_012426,AC106804,CH471241,AJ001443,AK001297,AK074933,AK291768,AL110251,BC000463,BC003146,BC009780,BC068974,BI465052,CB241776,CR617811,CR622673,D13642 BAA32662,Q15393,NP_036558,EAW51803,EAW51804,EAW51805,CAB56791,BAF84457,CAB53699,AAH00463,AAH03146,AAH09780,AAH68974,BAA02805 Hs.514435 GDB:9784300 KIAA0017|RSE1|SAP130|SF3b130|STAF130 protein-coding 1320131 SF3B4 splicing factor 3b, subunit 4, 49kDa This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. 1580863 7958871,14667819,12226669,9731529,17513295,16236267,16189514,15592455,15489334,15456888,15351706,14702039,12738865,12477932,12234937,11500380,10882114,10490618,9373149,8125298,16923959,15146077,17353931 10262 NM_005850,AL590487,AL591493,CH471121,L35013,AK097315,AK223322,BC004273,BC013886,BC090883,BM460550,CR591497,CR592826,CR594952,CR595486,CR600971,CR605255,CR614991,CR619749,CR620359,CR621149,CR623704 NP_005841,CAI12647,CAI12648,EAW53595,AAA60300,BAD97042,AAH04273,AAH13886,AAH90883,Q15427,Q53FG6,Q5SZ63,Q5SZ64,ABM83897,ABM87219,ABW03550 Hs.516160 GDB:9955830 MGC10828|SAP49|SF3b49 protein-coding 1347608 SF3B4P splicing factor 3b, subunit 4, pseudogene 326276 NG_002291,NG_002536,AL135978 pseudo 1345762 SF3B5 splicing factor 3b, subunit 5, 10kDa 1580863 12226669,16381901,15489336,15489334,14574404,12477932,12234937,11256614,11076863 83443 NM_031287,AL031390,CH471051,AK074417,BC000198,BK000562,BM823656 NP_112577,CAI19755,EAW47851,AAH00198,DAA00073,Q0JU62,Q9BWJ5,CAL37949 Hs.110695 MGC3133|SF3b10 protein-coding 1321429 SF4 splicing factor 4 SF4 is a member of the SURP family of splicing factors.[supplied by OMIM] 12226669,15489334,15057824,14702039,12594045,12477932,12176931 57794 NM_172231,AC003967,AC004475,AC022543,CH471106,AF521128,AK092745,AK096152,AK292085,AL137286,AL713757,AY072916,AY072917,BC001043,BC002986,BC063784,BC119728,BC119729,BC142988,CB960848,CR593392,CR606492,CR607324 NP_757386,AAC08052,EAW84808,EAW84809,EAW84810,EAW84811,EAW84812,AAN77123,BAF84774,CAB70678,CAD28528,AAL68960,AAL68961,AAH63784,AAI19729,AAI19730,AAI42989,Q0VDC7,Q8IWZ8 Hs.515274 DKFZp434E2216|F23858|RBP protein-coding 1347387 SFI1 Sfi1 homolog, spindle assembly associated (yeast) 16189514,14702039,14504268,12477932,9628581,16009131 9814 NM_001007467,NM_014775,AL096701,AL096768,AL109802,CH471095,AB011114,AK055147,AK097004,AK292408,AL708501,BC021576,BC033613,BC041101,BC046221,BC110814,BC129926,BC129945 NP_001007468,NP_055590,CAI23034,CAM28334,CAH70755,EAW59980,EAW59981,EAW59982,EAW59983,BAA25468,BAC04925,BAF85097,AAH21576,AAH33613,AAH46221,AAI10815,AAI29927,AAI29946 Hs.62209 MGC131712|MGC150663|MGC156283|MGC57874|PISD|RP5-858B16.1|hSfi1p protein-coding 1343140 SFMBT1 Scm-like with four mbt domains 1 This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. Several alternative splice variants have been characterized. 1580863 17599839,15489334,12477932,10661410,16189514 51460 NM_001005158,NM_001005159,AC096887,AC099667,AC103589,CH471055,AB189472,AF168132,AL080140,AL523328,BC014614,BG717319,BG723139,BM560104,BU553665,NM_016329 NP_057413,NP_001005158,NP_001005159,EAW65271,EAW65272,EAW65273,BAE43835,AAF19794,CAB45734,AAH14614,Q402F7,Q9UHJ3,ABM83787,ABM87109 Hs.343679 DKFZp434L243|RU1|SFMBT protein-coding 1312812 SFMBT2 Scm-like with four mbt domains 2 15164054,14702039,10997877 57713 NM_001029880,AL138771,AL139125,AL158046,AL590095,CH471072,AB046837,AK090887,BC152430 NP_001025051,CAI18944,CAI19142,EAW86385,BAB13443,AAI52431,Q5VUG0 Hs.407983 protein-coding 1312341 SFN stratifin 1580863,2292009 8515476,11574543,10767298,18382127,18036402,18036248,17982629,17786341,17786288,17443672,17391729,17388661,17361185,17359284,16964403,16964243,16953367,16814250,16797759,16786000,16710414,16648560,16581770,16532026,16505098,16271083,16243811,16229802,16189514,16098031,16045749,15867223,15857578,15857577,15731107,15654971,15654940,15489902,15489334,15482563,15467455,15367659,15324660,15292943,15282546,15260850,15187095,15184053,15173315,15140222,15131044,15102672,15023544,14568170,14517281,12919677,12816952,12787309,12730237,12582028,12477932,12438239,12075357,11917136,11886850,10524633,9659898,1390337,1286667,15778465,11896572,16009130,15574328 2292009 2810 NM_006142,AF029081,AL034380,CH471059,AF029082,BC000329,BC000995,BC001550,BC002995,BC023552,CR541905,CR541926,M93010,X57348 NP_006133,AAC52029,CAB92118,EAX07786,EAX07787,AAC52030,AAH00329,AAH00995,AAH01550,AAH02995,AAH23552,CAG46703,CAG46724,AAA59546,CAA40623,P31947,ABM85088 Hs.523718 GDB:385027 YWHAS protein-coding 1343285 SFPQ splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) 1580863 15231747,8449401,17639083,17537995,17507659,17452459,17081983,16938326,16832349,16731528,16169070,16024807,15782174,15668243,15635413,15590677,15231748,15140795,14559993,12944487,12840015,12477932,12417296,12403470,11897684,11790298,11525732,11514619,11161712,11060040,10931916,10858305,10847580,9756848,9409622,9393982,8439294,8045264,2480877,9848648,10653975,11259580 6421 BC004534,BC027708,BC027717,BC051192,CR622509,X16850,X70944,NM_005066,AL590434,CH471059 EAX07425,EAX07426,AAH04534,AAH27708,AAH51192,CAA34747,CAA50283,P23246,Q5SZ71,Q5SZ72,Q5SZ73,Q6PIX2,Q86VG2,Q9BSV4,NP_005057,CAI12467,EAX07421,EAX07422,EAX07423,EAX07424 Hs.355934 GDB:138275 POMP100|PSF protein-coding 1349613 SFPQP splicing factor proline/glutamine-rich (polypyrimidine tract binding protein associated) pseudogene 12815422 23758 NG_002816,AC005820 GDB:10795342 splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) pseudogene pseudo 735754 SFRP1 secreted frizzled-related protein 1 Secreted frizzled-related protein 1 (SFRP1) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP1 and SFRP5 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP1 is expressed in several human tissues, with the highest levels in heart. 9192640,9391078,18371946,18274669,18156211,18035687,17699851,17626620,17544413,17500071,17485441,17471511,17465504,17443492,17353908,17035233,16775427,16609023,16532032,16523202,16449975,16423993,16410723,16410684,16407829,16328026,16288033,16149051,16007200,15886250,15677765,15489334,15335268,15235574,14871816,14581477,12477932,12413893,11932307,11741940,11593386,10660608,10347172,9724099,9096311,12925876,9403839,8922468,7561057,9138296,11287180 6422 NM_003012,AC104393,AF229192,CH471080,AF001900,AF017987,AF056087,AK127331,AK293090,AL049995,BC004466,BC036503,CR613872 NP_003003,AAK00753,EAW63260,EAW63261,AAB61576,AAB70793,AAC12877,BAC86934,BAF85779,AAH04466,AAH36503,Q05DS5,Q6ZSL4,Q9BZZ6,Q8N474 Hs.213424 GDB:9863258 FRP|FRP-1|FRP1|FrzA|SARP2 protein-coding 1345643 SFRP2 secreted frizzled-related protein 2 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. 18079202,17848950,17410438,17352030,17081983,16609023,16407829,16303743,15489334,15340161,15146197,15094274,14709558,14561758,12975309,12477932,10654605,10072424,9853965,9642118,9391078,9096311,14702039 6423 NM_003013,AC020703,CH471056,AA449032,AF017986,AF311912,AK075372,AK093922,AY359001,BC008666,BM906663,BM924815,BQ130455,CN431016 NP_003004,EAX04949,AAB70792,AAG24923,AAQ89360,AAH08666,Q96HF1 Hs.481022 GDB:9863260 FRP-2|SARP1|SDF-5 protein-coding 1350997 SFRP4 secreted frizzled-related protein 4 Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. 10211996,18079202,17476687,16609023,16356838,16151791,15705870,15489334,14760084,14517837,12952927,12477932,10728394,9409757,9096311,15607035 6424 NM_003014,AC018634,CH236951,CH471073,AF026692,BC032828,BC047684,BT019679,CR541731,CR541755,DQ420628,BC058911 NP_003005,EAL23981,EAW94085,AAC04617,AAH32828,AAH58911,AAV38485,CAG46532,CAG46555,ABD83351,Q05BG7,Q1ZYW2,Q6FHJ7,AAH47684 Hs.658169 GDB:9863262 FRP-4|FRPHE|MGC26498 protein-coding 1321235 SFRP5 secreted frizzled-related protein 5 Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. 10072424,9391078,16609023,15489334,15164054,12477932,9642118,9096311 6425 NM_003015,AL358938,CH471066,AF017988,AF117758,BC050435,CR596705 NP_003006,CAI14274,EAW49894,AAB70794,AAD25052,AAH50435,Q5T4F7 Hs.279565 GDB:9863263 SARP3 protein-coding 1350049 SFRS1 splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor) This gene encodes a member of the arginine/serine-rich splicing factor protein family, and functions in both constitutive and alternative pre-mRNA splicing. The protein binds to pre-mRNA transcripts and components of the spliceosome, and can either activate or repress splicing depending on the location of the pre-mRNA binding site. The protein's ability to activate splicing is regulated by phosphorylation and interactions with other splicing factor associated proteins. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 11790298,11779509,11683387,11418604,11285240,11101529,10843177,10757789,10713112,10390541,10366588,10225947,10022843,9885563,9799243,9671816,9611241,11801589,9473574,9472028,9447963,9420331,9373149,9237760,9023367,8816452,8798720,8626563,8617202,8530103,8261509,8223481,8208298,8189522,8139654,8125298,7543047,7512732,1855257,10196197,15184380,15243141,15652350,17353931,1830244,12226669,18439897,18243119,18155240,17959926,17670832,17310252,17081983,16721827,16611940,16505493,16344560,16260492,16223727,16210245,16189514,16096057,15907217,15782174,15635413,15592455,15546619,15489334,15456888,15452250,15367627,15210956,15208309,15163745,15123677,14559993,14555757,12612063,12565863,12525645,12477932,12270705,12221105,12215544,12135490,11991638,11967326,11825891,1741384,1577277,17517895,14623875 6426 BC033785,CB044653,CR611166,DA939911,M69040,M72709,NM_001078166,NM_006924,AC015813,CH471109,AB062124,AB209558,AK225711,AK289933,BC010264 AAH10264,AAH33785,AAA03476,AAA35564,AAA35565,Q07955,Q59FA2,NP_001071634,NP_008855,EAW94485,EAW94486,EAW94487,EAW94488,EAW94489,EAW94490,EAW94491,EAW94492,BAB93456,BAD92795,BAF82622 Hs.68714 GDB:217052 ASF|MGC5228|SF2|SF2p33|SRp30a protein-coding 732515 SFRS10 splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila) 14765198,14729963,15324660,14702039,15302935,14559993,14520560,12798777,12649279,12604596,12531473,12477932,12165565,11875052,11153908,10713112,10339552,9790768,9473574,9212162,8617505,7499316,17353931,9546399,10749975,15169763,17081983,16964243,15782174,15635413,15489334 6434 NM_004593,AC009247,AF057159,CH471052,AB209208,AK091863,AK094495,AK098191,AK125610,BC000160,BC000451,BC005898,CR590258,CR603112,CR608950,CR749214,U61267,U68063,U87836 NP_004584,AAD19277,AAD19278,AAD19279,EAW78204,EAW78205,EAW78206,EAW78207,EAW78208,BAD92445,BAC05256,AAH00160,AAH00451,AAH05898,CAH18071,AAC28242,AAB08701,AAB69763,P62995,Q59GA1,Q68DZ9,Q8N1H4,ABM81863,ABW03333 Hs.533122 GDB:9836468 DKFZp686F18120|Htra2-beta|SRFS10|TRA2-BETA|TRA2B|TRAN2B protein-coding 1343968 SFRS11 splicing factor, arginine/serine-rich 11 This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although the function of this protein is not yet known, structure and immunolocalization data suggest that it may play a role in pre-mRNA processing. 1580863 17353931,1896467,12226669,17081983,16943417,14729963,14702039,12477932,10606266,9756848,8816452 9295 NM_004768,AL353771,CH471059,AB062486,AF086515,AK021742,AL832279,BC002784,BC009840,BC017359,BC022815,BC032727,BC040436,BX641004,CR614713,M74002,BX537679,BX640645 Q5T757,Q5T760,NP_004759,CAI22333,CAI22334,CAI22335,CAI22336,EAX06458,EAX06459,BAB93511,AAH02784,AAH09840,AAH17359,AAH32727,AAH40436,CAE46007,AAA35554,Q05519,Q05BU6,Q5HYN2,Q6MZM2,Q6N079,Q6PJB9,Q6PJY9,Q6PKC9,Q8IWE6,Q8NI74,CAI46272,CAE45791 Hs.479693 GDB:9955649 DKFZp686M13204|dJ677H15.2|p54 protein-coding 1352789 SFRS12 splicing factor, arginine/serine-rich 12 SFRS12 belongs to the superfamily of serine/arginine-rich (SR) splicing factors. It modulates splice site selection by regulating the activities of other SR proteins (Barnard et al., 2002 [PubMed 11991645]).[supplied by OMIM] 1580863 12043562,11991645,10757789,17353931,15489334,15456940,14702039,14559993,12477932,12403470,12183448,12176931 140890 NM_001077199,NM_139168,AC008772,AC025442,CH471137,AB209694,AF459094,AK091758,AK125893,AL049309,AL832888,AW963850,BC017000,BC047322,BC067770,BC112343 NP_001070667,NP_631907,EAW51328,EAW51329,EAW51330,EAW51331,BAD92931,AAL67778,CAH10414,AAH47322,AAH67770,AAI12344,Q59EW7,Q69YM5,Q8WXA9 Hs.519347 GDB:11500727 DKFZp564B176|MGC133045|SRrp508|SRrp86 protein-coding 1604479 SFRS12IP1 SFRS12-interacting protein 1 15456940,14702039,12477932 285672 NM_173829,AC008898,CH471137,AK094073,AL832348,BC047006,BC108716,BC127085,BC127086,CR619130 NP_776190,EAW51366,EAW51367,EAW51368,BAC04279,AAI08717,AAI27086,AAI27087,Q8N9Q2 Hs.656180 FLJ36754|MGC131910|MGC150548|MGC150549|P18SRP protein-coding 1314432 SFRS14 splicing factor, arginine/serine-rich 14 16713569,16565220,15489334,15302935,15057824,12594045,12477932,9205841 10147 NM_014884,NM_001017392,AC004447,CH471106,AB002363,AF518874,AK074842,AK291275,AL832488,AL832587,BC020586,BX647813,CR594892,CR607078,CR627095 NP_055699,NP_001017392,AAC06129,EAW84766,EAW84767,EAW84768,EAW84769,EAW84770,EAW84771,EAW84772,EAW84773,BAA20820,AAN77117,BAF83964,CAI46117,AAH20586,CAI46012,Q5HCH9,Q8IX01,CAI46255 Hs.515271 DKFZp779L2418 protein-coding 1317892 SFRS15 splicing factor, arginine/serine-rich 15 1580863 17914031,17081983,15489334,15302935,12477932,10830953,10574461,12692135 57466 NM_020706,AP000254,AP000255,CH471079,AB032998,AF023142,AK025748,AK027017,AK057840,AL117417,AL834304,BC014921,BC043353,BC052286,BC064990,CR603649 NP_065757,EAX09884,EAX09885,EAX09886,EAX09887,EAX09888,BAA86486,AAD09327,CAB55911,CAD38974,AAH14921,AAH43353,AAH52286,AAH64990,O95104,Q0P607 Hs.17255 DKFZP434E098|FLJ23364|KIAA1172|SCAF4|SRA4 protein-coding 1347770 SFRS16 splicing factor, arginine/serine-rich 16 17081983,16713569,16189514,15761153,15489334,15302935,14702039,12975309,12477932,12169693,14623875 11129 AC011489,AF042810,CH471126,AF042800,AK074590,AK094681,AL080189,AY358944,BC013178,BC080554,BC131496,CR604154,NM_007056 NP_008987,AAC82340,EAW57317,EAW57318,EAW57319,AAC82339,BAC11078,AAQ89303,AAH13178,AAH80554,Q8N2M8 Hs.466917 CLASP|FLJ90109|SWAP2 splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, drosophila) protein-coding 1606031 SFRS17A splicing factor, arginine/serine-rich 17A 16982639,1438229,17081983,15489334,14759258,12477932,9736779,8889548,1302606,17353931,16189514 8227 CR620922,L03426,M99578,NM_005088,AL683807,BC015800,BC016935,BC028151,BC110496,BC110497,BM046630,BM713425 AAA61303,AAA61304,AAA36187,Q02040,Q05DA9,Q5JQ75,NP_005079,AAH16935,AAH28151,AAI10497,AAI10498 Hs.522572 721P|CCDC133|CXYorf3|DXYS155E|MGC125365|MGC125366|MGC39904|XE7|XE7Y protein-coding 1316570 SFRS18 splicing factor, arginine/serine-rich 18 17081983,16344560,15489334,15302935,14702039,14578391,14574404,12477932 25957 NM_015491,NM_032870,AL513550,BC052638,BC064413,BC064640,BC107700,BX648520,CR623227,DA208838,CH471051,AF161379,AF161424,AF314184,AF314185,AF314186,AJ420559,AJ420570,AK027658,AK027759,AK027898,AK074628,AK291155,AL080186,BC007791,BC012780,BC019074,BC042850 NP_056306,NP_116259,CAI17194,AAH42850,AAH52638,AAH64413,AAH64640,AAI07701,Q3B7B6,Q4G0P9,Q6PJQ9,Q8TEZ9,Q8TF01,EAW48476,EAW48477,EAW48475,EAW48478,EAW48479,EAW48480,EAW48481,AAF28939,AAF28984,AAL76163,AAL76164,AAL76165,BAB55273,BAB55350,BAB55440,BAC11098,BAF83844,CAB45767,AAH07791,AAH12780,AAH19074 Hs.520287 C6orf111|DKFZp564B0769|FLJ14752|FLJ14853|FLJ14992|FLJ90147|HSPC306|MGC104269|RP11-98I9.2|SRrp130|bA98I9.2 protein-coding 1343626 SFRS2 splicing factor, arginine/serine-rich 2 1580863 11313942,11239462,11101696,11101529,11090190,10893273,10757789,10082253,9774382,9601515,9541613,9513048,9473574,9373149,9358160,9237760,8816452,8361546,8302870,8261509,8139654,8125298,7546906,7543047,3031469,1577277,1557353,1465383,1373910,17353931,11827461,9447963,15652350,8530103,12226669,18025108,17353911,17081983,16990281,16964243,16761280,16713569,15907217,15798212,15511225,15489334,15302935,15208309,15123677,14703516,14702039,14684736,14559993,12837281,12665590,12565890,12477932,12239324,11991645,11980906,11967326,11790298,11779509,11683997,11683387,11448987 6427 AK093626,AK097069,AK098209,AK123712,AK124792,AK126432,AK223252,BC000339,BC001303,BC066958,BC070086,BT007250,CR593478,CR597972,CR605207,CR618477,CR620472,CR621293,NM_003016,AC005837,CH471099,CQ859722,L03693,X75755,AK092489,CR623313,CR624890,CR626719,M90104,X62447 BAC04206,BAD96972,AAH00339,AAH01303,AAH66958,AAH70086,AAP35914,NP_003007,EAW89439,EAW89440,EAW89441,EAW89442,EAW89443,EAW89444,EAW89445,EAW89446,EAW89447,EAW89448,CAH25911,AAA60162,CAA53383,BAC03903,AAA60306,CAA44307,Q01130,Q53FN0,Q6NXQ0,Q8N220,Q8NAK9,ABM82136,ABM85319 Hs.584801,Hs.709376 GDB:132412 PR264|SC-35|SC35|SFRS2A|SRp30b protein-coding 1602725 SFRS2B splicing factor, arginine/serine-rich 2B The SR (serine/arginine-rich) family contains a number of phosphoproteins that function as essential and alternative splicing factors. The SR family of proteins is characterized by the presence of a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The protein encoded by this gene is a member of the SR family and functions as an essential splicing factor in vitro. This gene is thought to be an expressed PR264/SC35 retropseudogene. 16344560,14702039,14559993,12477932,11058868,9671500 10929 NM_032102,AF031165,AP001264,CH471065,AF031166,AJ270685,AK023379,BC057783,CB215027,DA882851 NP_115285,AAK54350,EAW66954,EAW66955,EAW66956,AAK54351,AAH57783,Q9BRL6 Hs.476680,Hs.648465 SRP46 protein-coding 1354010 SFRS2IP splicing factor, arginine/serine-rich 2, interacting protein 1580863 9447963,9224939,17081983,15489334,15302935,14702039,12477932,10508479,10069390,8208298 9169 NM_004719,AC000015,AC084878,CH471111,AF030234,AF147405,AK026473,AK096682,BC017465,BC017851,BC033589,BC040951,Y11251 NP_004710,EAW57892,EAW57893,EAW57894,AAC39565,AAH17851,AAH33589,AAH40951,CAA72121,Q99590,AAI41553 Hs.210367 GDB:9955158 CASP11|SIP1|SRRP129 protein-coding 1319459 SFRS3 splicing factor, arginine/serine-rich 3 12226669,17183366,17081983,17028590,16713569,15827065,15489334,15324660,15231747,14702039,14559993,12890497,12634307,12477932,11991645,11790298,11336712,10823932,10809782,10757789,10390541,9647638,9447963,9420331,8208298,1577277,17353931,2030943,15169763 6428 CR611557,CR612246,CR612662,CR613674,CR617139,CR617752,CR621528,CR621558,CR622370,CR622471,CR624175,CR624897,L10838,NM_003017,CR608185,CH471081,Z85986,AF107405,AK091927,AK095580,BC000914,BC069018,BT007017,CR595256,CR599324,CR599518,CR601962 AAA36648,P84103,Q5R3J9,NP_003008,EAX03898,EAX03899,EAX03900,EAX03901,EAX03902,EAX03903,CAI19115,AAD44523,AAH00914,AAH69018,AAP35663 Hs.405144 GDB:312976 SRp20 protein-coding 1350526 SFRS4 splicing factor, arginine/serine-rich 4 1580863 8321209,12226669,17081983,16710414,16189514,15761153,15592455,15489334,14578391,14559993,12581738,12477932,10983978,10390541,9531537,9447963,9373149,8208298,8125298,7651409,1577277,14623875 6429 NM_005626,AC004236,AL357500,AL590729,CH471059,AB209856,AK223444,AK291509,BC002781,BT007415,CR595944,L14076 NP_005617,AAC04476,CAI14326,EAX07657,EAX07658,EAX07659,BAD93093,BAD97164,BAF84198,AAH02781,AAP36083,AAA36649,Q08170,Q53F45,Q59EF5,ABM84772 Hs.469970 GDB:209209 SRP75 protein-coding 734021 SFRS5 splicing factor, arginine/serine-rich 5 729792,1580863 9531537,9434190,9244433,9110174,8619474,7686911,1577277,14623875,10390541,8208298,14559993,12762840,7556075,12226669,17081983,16990281,16103121,15489334,15302935,15163745,15123677,14759258,12665590,12477932 729792 6430 NM_001039465,NM_006925,AF020307,AL157789,CH471061,AB209804,AA640719,AF070562,BC018823,BC029984,BC040209,BC095420,BF213008,BT007089,BU928782,BX247988,BX640605,CR542167,CR542182,CR590038,CR595330,CR598816,CR599379,CR600334,CR601743,CR607468,CR610617,CR614547,CR615285,CR615896,CR622610,CR625732,CR626817,U30826,U30827,U30884 Q59EK7,NP_001034554,NP_008856,AAC39543,EAW81002,EAW81003,EAW81004,EAW81005,EAW81006,EAW81007,EAW81008,EAW81009,EAW81010,Q6FGE0,Q86U32,BAD93041,AAH18823,AAH40209,AAH95420,AAP35752,CAD62322,CAE45711,CAG46964,CAG46979,AAA93070,AAB60405,AAA93074,Q13243 Hs.706773 GDB:312979 HRS|SRP40 protein-coding 1342668 SFRS6 splicing factor, arginine/serine-rich 6 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. 1580863 17353931,7556075,12226669,17081983,16189514,15635413,15489334,15302935,14559993,12779084,12549978,12549914,12531473,12477932,11780052,11549316,10983978,10757789,10340541,10092085,9649504,9436904,8208298,7651409,1577277 6431 CR605163,CR606848,U30828,U30883,NM_006275,AL031681,CH471077,AB208976,AK291203,AL110214,BC006832,BM788391,CR591046 AAA93071,AAA93073,Q13247,Q59GY3,NP_006266,CAB43960,EAW75964,EAW75965,EAW75966,EAW75967,BAD92213,BAF83892,AAH06832 Hs.6891 GDB:312981 B52|MGC5045|SRP55 protein-coding 1316615 SFRS7 splicing factor, arginine/serine-rich 7, 35kDa 1580863 15169763,8013463,12226669,17513303,17137791,17081983,16964243,15907217,15489334,15302935,15210956,15184380,15146077,15123677,14702039,14684736,14559993,12501247,12477932,12221105,11096110,9685386,9373149,8125298,7629084,17353931,16189514 6432 NM_001031684,AC074366,CH471053,L41887,AF055270,AK091425,AK225141,AY166860,AY513287,BC000997,BC017369,BC017908,BC022328,BT006745,CR598097,CR598891,CR603929,CR606408,CR611966,L22253 NP_001026854,AAX93102,EAX00363,EAX00364,EAX00365,EAX00366,AAA88098,AAF00003,BAC03661,AAN87842,AAT08040,AAH00997,AAH17369,AAH17908,AAH22328,AAP35391,AAA35495,Q16629,Q564D3,Q8N9N9,Q8NB80,Q9UL60 Hs.309090 GDB:378350 9G8|AAG3|HSSG1|RBM37|ZCCHC20|ZCRB2 protein-coding 1312773 SFRS8 splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila) This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Multiple alternatively spliced variants have been identified although their full-length natures have not been characterized to date. 1580863 8940107,17081983,15302935,12477932,8206918,17353931 6433 NM_004592,AC117500,AC131009,CH471054,AB208921,BC008707,BC015953,BC024041,BC113420,BC136678,BC142980,U08377 NP_004583,EAW98526,EAW98527,BAD92158,AAH08707,AAH15953,AAH24041,AAI36679,AAI42981,AAA19604,Q12872,Q59H38,Q6PJF7,Q8IV81 Hs.308171 GDB:636183 MGC167082|SWAP protein-coding 1319864 SFRS9 splicing factor, arginine/serine-rich 9 1580863 7556075,12226669,17548433,17540466,17081983,16964243,16541075,15695522,15489334,15302935,15009090,12738786,12604611,12477932,12024014,11875052,11790298,11694584,11118435,10823932,10196175,10022843,9685386,9671816,14559993 8683 NM_003769,AL021546,CH471054,U87279,AA845918,AI005398,AK290644,BC093973,BU786332,CR593564,CR598070,CR603096,CR606248,CR607246,CR615364,CR617389,U30825,BC093971 NP_003760,CAA16498,EAW98194,AAD00626,BAF83333,AAH93971,AAH93973,AAA93069,Q13242 Hs.369624,Hs.706889 GDB:681189 SRp30c protein-coding 1353282 SFRS9P1 splicing factor, arginine/serine-rich 9 pseudogene 1 10830953 54021 NG_000902,AP000692,AP001725 GDB:10796440 pseudo 1343304 SFT2D1 SFT2 domain containing 1 15489334,14574404,12477932 113402 NM_145169,AL022069,AL121956,CH471051,CS072430,AF041429,BC018969,BC028388 NP_660152,CAI19656,CAI22197,EAW47533,EAW47534,EAW47535,CAI93568,AAF18564,AAH18969,AAH28388,Q4G178,Q8WV19 Hs.487143 C6orf83|MGC19825|pRGR1 chromosome 6 open reading frame 83 protein-coding 1605217 SFT2D2 SFT2 domain containing 2 16710414,15489334,14702039,12975309,12477932 375035 NM_199344,AL009051,CH471067,AK290325,AL035297,AY358675,BC068098 NP_955376,CAI22642,CAI22643,EAW90822,BAF83014,CAA22897,AAQ89038,AAH68098,O95562 Hs.645435 FLJ34085|RP4-747L4.1|UNQ512|dJ747L4.C1.2 protein-coding 1603003 SFT2D3 SFT2 domain containing 3 16303743,15815621,12477932,8889548 84826 NM_032740,AC006011,CH471103,AK074549,AW058154,BC006808,BC063637,BU074308,BU736338,CB990183 NP_116129,AAX82032,EAW95340,EAW95341,BAC11053,AAH06808,Q587I9,Q96J13 Hs.345849,Hs.700855 MGC5391 protein-coding 736369 SFTPA1 surfactant, pulmonary-associated protein A1 1578322 18022079,17905854,17874049,17848554,17580966,17128993,11181995 1578322 653509 NM_001093770,BX248123,CH471083 NP_001087239,CAI16065,CAI16066,CAI16067,EAW54657,EAW54659 Hs.523084 GDB:119593 COLEC4|SFTP1|SP-A|SP-A1 protein-coding 1346710 SFTPA1B surfactant, pulmonary-associated protein A1B 2995821,18251786,17524024,17407567,17343789,17311505,17293378,17264398,17220308,17083016,16889547,16884531,16827183,16754682,16581766,16429424,16330552,16292672,16162765,16114131,16081790,16061856,15996209,15932345,15894557,15890661,15845487,15615713,15608147,15489334,15377498,15308505,15274124,15216431,15164054,15145932,15102713,15075250,15026426,14751851,14720435,14633512,14617519,14531999,13680361,12846554,12842807,12817025,12794007,12777246,12750409,12743564,12654643,12654642,12505869,12477932,12476938,12437362,12421966,12244199,12244146,12055204,12040027,11807709,11751208,11724772,11714829,11245991,11174628,11149893,11105614,11087951,11063734,10781424,10101009,9813381,9294011,9204768,8663107,8494055,8406480,8360162,8354874,8226864,3755136,2884868,2610270,1986781,1935736,1577827,1372511,12730206 6435 NM_005411,AC068139,AY198391,CH471083,M30838,AK290703,BC026229,BC029913,BC111570,BI820937,M13686 NP_005402,AAO13486,EAW54658,EAW54660,AAA36510,BAF83392,AAH26229,AAH29913,AAI11571,AAA60211,Q8IWL2 Hs.694728 AC068139.6|MGC133365|PSAP|PSPA|SFTP1|SFTPA1 protein-coding 1346707 SFTPA2 surfactant, pulmonary-associated protein A2 1578322 17580966,15489334,15164054,3755136,2610270,1372511 1578322 729238 NM_001098668,BX248123 NP_001092138,CAI16061,CAI16062,Q8IWL1 Hs.535295 GDB:6045454 COLEC5|SP-A2|SPAII protein-coding 1351677 SFTPA2B surfactant, pulmonary-associated protein A2B 17678872,17524024,17407567,17311505,17293378,17220308,17189324,17083017,17083016,16884531,16429424,16292672,16162765,15894557,15489334,15377498,15216431,15164054,15102713,13680361,12777246,12743564,12505869,12477932,12476938,11552738,11174628,11105614,11087951,10781424,10737800,9813381,9761758,9698591,9689918,9476117,9373149,8406480,8179012,8125298,3755136,2995821,2610270,1986781,1372511 6436 S69680,S69681,S69683,S69685,S69686,S69687,S69688,S69690,S69791,AC068139,AY206682,CH471083,M68519,S69679,AA669148,AK225599,BC111571,BC139727,BC157866,BC157890,BI011255,K03475,NM_006926 AAA36520,AAB30730,AAB30731,AAB30733,AAB30734,AAB30735,AAB30736,AAB30737,AAB30738,AAB30732,P78489,P78490,Q16139,Q16140,Q16599,Q8IWL1,NP_008857,AAO13490,EAW54651,EAW54652,EAW54653,EAW54654,EAW54655,EAW54656,AAA60319,AAB30729,AAI11572,AAI39728,AAI57867,AAI57891 Hs.523084,Hs.535295,Hs.705470 AC068139.3|SFTPA2|SP-2A|SP-A1|SP-A2|SPAII protein-coding 1351946 SFTPAP1 surfactant, pulmonary-associated protein A pseudogene 1 1827027 6437 GDB:134719 737197 SFTPB surfactant, pulmonary-associated protein B The SFTPB gene encodes the pulmonary-associated surfactant B protein (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a lipid-rich material that prevents lung collapse by lowering surface tension at the air-liquid interface in the alveoli of lung. SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Surfactant is composed of phospholipids and other surfactant-associated proteins (Clark et al., 1995 [PubMed 7644495]). See also SFTPA1 (MIM 178630), SFTPC (MIM 178620), and SFTPD (MIM 178635).[supplied by OMIM] 1624152,1580863 14977415,14766755,14720435,14718442,14569193,13680361,13129928,12972403,12896877,12829715,12784301,12573987,12490037,12483294,12477932,12424586,12356334,12161428,12107845,11788590,11699576,11699574,11076040,11063734,10798379,10722708,10571948,9793979,8163685,7956367,7644495,3597440,3343343,3035561,2924687,2475034,1606172,1568474,1415726,1346779,16333843,16214863,16211553,16183668,16100012,16042774,15817713,15790313,15695595,15654742,15568810,15496605,15489334,15315329,15190959,15102713,15049696,10378403,18263595,17690329,17597650,17581675,17540055,17507829,17498296,17264398,17209137,17071721,16971405,16809635,16630564,16570259,16549540,16500948,16461352,16456143 1624152 6439 NM_198843,NM_000542,AC012454,AF400074,CH471053,CS123915,M24461,AW204600,BC032785,BI821350,BM989941,CA435153,CA439044,CR601923,DQ317589,J02761,M16764,M19097 NP_942140,NP_000533,AAK77913,EAW99487,EAW99488,EAW99489,CAJ18771,AAB59541,AAH32785,ABC59511,AAA60212,AAA88099,AAA36628,P07988 Hs.512690 GDB:120374 PSP-B|SFTB3|SFTP3|SMDP1|SP-B protein-coding 736728 SFTPC surfactant, pulmonary-associated protein C The SFTPC gene encodes pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. It is produced exclusively by type II alveolar epithelial cells in the lung. Pulmonary surfactant is a lipid-rich material that prevents lung collapse by lowering surface tension at the air-liquid interface in the alveoli of lung. Surfactant is composed of phospholipids and other surfactant-associated proteins (Clark and Clark, 2005 [PubMed 15927881]). See also SFTPA1 (MIM 178630), SFTPB (MIM 178640), and SFTPD (MIM 178635).[supplied by OMIM] 1624153,1580863 18038590,17597647,17586700,17264398,17121584,17051367,17005585,16709565,16631109,16630564,16613858,16449190,16042774,15927881,15778495,15647591,15516475,15496605,15489334,15293602,15153097,15133475,15102713,15049696,15039969,14977415,14735158,14525980,13817571,13680361,12933801,12477932,12034564,11991887,11907042,11893657,11802797,11699576,11699575,11699574,11344267,11207353,8181452,7713515,5942662,3479771,3366248,3335510,2839484,2383558,2326260,1859376 1624153 6440 NM_003018,AC105206,AY337315,AY357924,CH471080,CS123922,J03890,U02948,AK058094,BC005913,BC105594,DB537043,DQ884411,J03517,J03553 NP_003009,AAP88034,AAQ67734,EAW63705,EAW63706,EAW63707,CAJ18780,AAC32022,AAC32023,AAB60332,AAH05913,ABI63378,AAA36634,AAA36631,P11686 Hs.1074 GDB:120373 PSP-C|SFTP2|SMDP2|SP-C protein-coding 735702 SFTPD surfactant, pulmonary-associated protein D 1580863 9751757,10485905,18251786,18226251,18092821,18052966,17999785,17874049,17083016,16889547,16834340,16709857,16636058,16514117,16426259,16406431,16361352,16114131,16061223,15951332,15711012,15700120,15661913,15608147,15489334,15274124,15244040,15173172,15164054,15145932,15123664,15102713,15067073,13680361,12888356,12853121,12753670,12730206,12654779,12654643,12479105,12477932,17848554,17693780,17567900,17524024,17264398,17209137,12244199,12218146,12218102,12032263,11967276,11916969,11912209,11854236,11278637,10820266,10542261,10368295,9777404,9153228,8889548,8630261,8428971,8424457,8406480,8226864,8006040,1932100,1898081,1400434,1339284,16227233 6441 NM_003019,AF034862,AL512662,AY216721,CH471142,L05483,L05485,BC022318,BI820265,BM985387,CR541948,X65018 NP_003010,CAI14436,AAO22991,EAW80419,EAW80420,EAW80421,AAB59450,AAH22318,CAG46746,CAA46152,P35247 Hs.253495 GDB:132674 COLEC7|PSP-D|SFTP4|SP-D protein-coding 1344361 SFTPF surfactant associated protein F 207107 AY102069 Hs.31562 GDB:11508961 protein-coding 1347220 SFTPG surfactant associated protein G 15489334,15340161,12975309,12477932,8889549 389376 NM_205854,AL662854,AL669830,AL773541,BX927194,CH471081,CR759747,CR936875,AI857998,AY102070,AY359057,BC039677,T94049 NP_995326,CAQ09776,EAX03350,CAQ06765,CAQ10927,AAQ89416,AAH39677,Q6UW10 Hs.211267 GDB:11508962 GSGL541|UNQ541 protein-coding 1351266 SFTPH surfactant associated protein H 12477932,11181995 253970 NM_001101341,AL132857,CH471078,AK027147,AY102071,BC042093,BC129834 NP_001094811,EAW65860,EAW65861 Hs.509165 GDB:11508963 FLJ23494 protein-coding 1353854 SFTPI surfactant, pulmonary associated protein I 207111 GDB:11508964 1343041 SFTPJ surfactant, pulmonary associated protein J 207112 GDB:11508965 1318276 SFXN1 sideroflexin 1 1580863 17353931,16381901,15589833,15489334,15060089,14702039,14634051,12477932,12150972,11722557,11274051,11230166,11076863,8132490,14743216,15489336 94081 NM_022754,AC091393,CH471062,AF327346,AK022287,AK022938,AK025032,AK056915,BC020517,BC063241,BX648188,CR599132 NP_073591,EAW61370,EAW61371,EAW61372,EAW61373,EAW61374,EAW61375,AAL56007,BAB14003,BAB14318,AAH20517,AAH63241,Q0JRZ4,Q9H9B4,CAL38720 Hs.369440 GDB:11508829 FLJ12876 protein-coding 1314569 SFXN2 sideroflexin 2 15489334,14702039,12670026,12477932 118980 NM_178858,AL391121,CH471066,AF462052,AK055711,BC022091,CR616223 NP_849189,CAI40863,EAW49675,EAW49676,EAW49677,AAM09645,BAB70993,AAH22091,Q5JSM6,Q96NB2,ABM83782,ABM87102 Hs.44070 GDB:11508830 protein-coding 1345797 SFXN3 sideroflexin 3 1580863 16303743,14702039,12477932 81855 CR614959,NM_030971,AL133215,CH471066,CQ783611,AK074707,AK093011,AL701236,BC000124,BG698800,BG773593,BG775086,BI819328 Q9BWM7,NP_112233,CAI10936,EAW49787,CAF86775,BAC11151,AAH00124 Hs.283844 GDB:11508831 BA108L7.2|SFX3 protein-coding 1314503 SFXN4 sideroflexin 4 15489334,15164054,14756423,14702039,12477932,8889548 119559 NM_213649,AL355598,AL355861,CH471066,AA401250,AF336980,AK095295,AW249181,AY269785,BC050475,BC063562,BQ009818,CB306697,CR603154,CR608481,CR610013,CR612192,CR612708,CR612933,CR621683,H12949 NP_998814,CAI15801,EAW49400,EAW49401,EAW49402,EAW49403,EAW49404,AAP23066,BAC04525,AAP97074,AAH63562,Q5T5X2,Q5T5X3,Q5T5X4,Q6P4A7,Q8N1Q4 Hs.655168 GDB:11508832 BCRM1 protein-coding 1343188 SFXN5 sideroflexin 5 1580863 15815621,15489334,14702039,12477932,12150972,12039050 94097 AK025170,AK094205,AK289731,AL833454,AY044437,BC013233,BC046630,BC101311,BC101312,BC101313,NM_144579,AC012366,CH471053,AK024193 BAF82420,AAK95826,AAI01312,AAI01313,AAI01314,Q8TD22,NP_653180,AAY14745,EAW99752,EAW99753,EAW99754 Hs.368171 GDB:11508827 BBG-TCC|MGC120413|MGC120415 protein-coding 1317616 SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) The dystrophin-glycoprotein complex (DGC) comprises a group of proteins that are critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Components of the DGC include dystrophin (MIM 300377), which is deficient in Duchenne muscular dystrophy (DMD; MIM 310200); syntrophins (e.g., MIM 600026); dystroglycans (MIM 128239); and sarcoglycans, such as adhalin, a 50-kD transmembrane protein (Roberds et al., 1993 [PubMed 8226900]).[supplied by OMIM] 1599344,1599345,1580863 8069911,7663524,7937874,16883602,15954112,15489334,15298081,12477932,11747090,10993904,10767327,10684260,9864373,9585331,9192266,9032047,8528203,8226900,7744812,7657792,16189514 1599344,1599345 6442 NM_000023,AC015909,CH471109,AK290622,BC025702,L34355,L35853,L46810,U08895 NP_000014,EAW94634,EAW94635,BAF83311,AAH25702,AAA35510,AAA50461,AAC37583,AAA81637,Q16586,ABM84703 Hs.463412 GDB:384077 50-DAG|A2|ADL|DAG2|DMDA2|LGMD2D|SCARMD1|adhalin protein-coding 1312050 SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000 [PubMed 10942431]).[supplied by OMIM] 1599343,1580863 7581448,8968749,17036316,16934466,16088906,15954112,15489334,14702039,12477932,12189167,12060343,11747090,10993904,10942431,10928275,10874299,10767327,10678176,10662809,10660328,9864373,9631401,9565988,9521867,9032047,7581449,2081733 1599343 6443 NM_000232,AC093858,CH471057,U63801,Y09781,AK094731,AK289892,BC020709,BC048972,BT019433,CR456810,CR590718,CR594277,U29586,U31116 NP_000223,EAX05429,EAX05430,AAB46956,CAA70920,BAF82581,AAH20709,AAV38240,CAG33091,AAB41291,AAA87034,Q16585,Q5U0N0,Q6IBJ4,ABM84066,ABM87424,ABW03884 Hs.438953 GDB:702072 A3b|LGMD2E|SGC protein-coding 1315366 SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. The mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1599341,1580863 8841194,8842738,17652892,17036316,15489334,14564412,14506720,12794684,12477932,10993904,10974018,10942431,10928275,10767327,10735275,10629222,10608889,10481911,10341878,9864373,9832045,8943294,8889549,8776597 1599341 6444 NM_000337,NM_172244,AC008535,AC011345,AC016577,AC025434,AC027308,CH471062,AA029970,AI139498,AK129889,AK130068,AK292794,BC008431,BC020740,BQ434817,BX501169,BX537948,BX642431,U58331,X95191 ABM85855,NP_000328,NP_758447,EAW61618,EAW61619,BAF85483,AAH20740,CAD97916,AAC50921,CAA64490,Q53XA5,Q92629,ABM82676 Hs.591727,Hs.644733 GDB:5886421 35DAG|CMD1L|DAGD|MGC22567|SG-delta|SGCDP|SGD protein-coding 1352882 SGCE sarcoglycan, epsilon The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM] 1580863 9405466,9475163,18362280,18349702,18205193,18162078,18098280,17898012,17702043,17702041,17394247,17394244,17296918,17230465,17200151,16534121,15728306,15679701,15627203,15390016,15368614,15193417,14978685,12975309,12853948,12821748,12707948,12634861,12620933,12477932,12444570,12402271,12325078,12060343,11528394,10993904,10554001 8910 AC069292,CH236949,CH471091,AB117974,AF031920,AF036364,AF516515,NM_001099400,AJ000534,AL547747,NM_003919,NM_001099401,AY359042,BC021709,BI552969,CR591589,CR596310,CR597920,CR606329,CR622102 NP_001092871,AAS07485,EAW76784,EAW76785,EAW76786,EAW76787,EAW76788,BAD21206,AAC14021,AAC04368,AAM64204,CAA04167,NP_001092870,NP_003910,AAQ89401,AAH21709,O43556,Q6L8P0,Q8NFG8,Q8WW28,ABM84989,ABW03640 Hs.371199 GDB:9958714 DYT11|ESG protein-coding 1347979 SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane associated cytoskeleton and the extracellular matrix. Defects in the protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). 1580309,1580863 8641426,16883602,16832103,15954112,15489334,15479193,15087111,14960875,12477932,12189167,10993904,10942431,10767327,10714584,10629222,9864373,8968757,8923014,8900232,8105688,7668303,7481775 1580309 6445 NM_000231,AL157766,AL160256,AL356287,CH471075,U63395,AK290620,BC074777,BC074778,BC109321,U34976 NP_000222,CAI13924,EAX08320,EAX08321,AAD13475,BAF83309,AAH74777,AAH74778,AAI09322,AAC50269,Q13326,Q5T8I2 Hs.37167 GDB:3763329 A4|DAGA4|DMDA|DMDA1|LGMD2C|MAM|MGC130048|SCARMD2|SCG3|TYPE protein-coding 1317183 SGCZ sarcoglycan zeta The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. 17438352,15489334,12477932,12189167 137868 AC023538,AC040926,AC084838,AC106857,AC107965,CH471080,AY028700,AY502063,BC069459,BC125037,NM_139167,AC009898,AC019215,AC020992,AC021760,AC022039 EAW63843,EAW63844,AAK21962,AAR89453,AAH69459,AAI25038,Q08AT0,Q6REU0,Q96LD1,NP_631906 Hs.676196 GDB:11510213 MGC149397|ZSG1 protein-coding 1603402 SGEF Src homology 3 domain-containing guanine nucleotide exchange factor 15221005,15133129,14702039,12697679,12477932 26084 NM_015595,AC018452,CH471052,AB073386,AF415175,AF415176,AK022655,AK022884,AK123040,AK127282,AL117429,AY552599,BC016628,BC078655 NP_056410,EAW78764,BAD38637,AAL27001,AAL27002,BAB14159,BAB14292,CAB55918,AAS59842,AAH16628,AAH78655 Hs.570682 CSGEF|DKFZP434D146|HMFN1864 protein-coding 1346308 SGIP1 SH3-domain GRB2-like (endophilin) interacting protein 1 SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM] 737633 11256614,17626015,16710414,16381901,16344560,15919751,15489336,15489334,14702039,12477932,11230166,11076863 737633 84251 AL136561,BC040516,BX640813,CR622141,CR749541,DA801276,NM_032291,AL139147,AL354978,AL356913,AL391820,CH471059,AB210039,AK090697,AK125044 CAB66496,AAH40516,CAE45891,CAH18344,Q0JUP6,Q5T518,Q6ZV33,Q9BQI5,CAL37765,NP_115667,CAH71843,CAH71845,CAH71846,CAH71847,EAX06521,EAX06522,EAX06523,BAE06121,BAC86031 Hs.132121 DKFZp686A16142|DKFZp761D221|FLJ33378|FLJ43054 protein-coding 731028 SGK1 serum/glucocorticoid regulated kinase 1 This gene encodes a serine/threonine protein kinase that is highly similar to the rat serum-and glucocorticoid-induced protein kinase (SGK). This gene was identified in a screen of hepatocellular genes regulated in response to cellular hydration or swelling. Cellular hydration is a catabolic signal, stimulating glycogenolysis and proteolysis, and inhibiting protein and glycogen synthesis. This kinase has been shown to be important in activating certain potassium, sodium, and chloride channels. Expression of this gene in hepatocytes is stimulated by transforming growth factor-beta (TGF-beta) which participates in the pathophysiology of diabetic complications. Since both TGF-beta expression and SGK expression are elevated in diabetic nephropathy, this suggests an involvement of SGK in the development of this condition. 1580863,1580967,1580968,1580969,1580970,2289157 15040001,14725621,14702039,14623317,14574404,12923071,12911626,12823993,12788082,12729930,12684516,12634932,12631736,12628440,12590200,12477932,12444200,12435876,12417559,12397388,12387817,12376324,12218062,12215463,12077559,12023960,11751930,11742982,11707620,11696533,11410590,11254654,11154281,10869359,10548550,10357815,10191262,9722955,16189514,14499622,15735679,17353931,9114008,10884438,18209482,17982255,17982254,17965184,17932503,17640988,17595519,17571248,17570343,17568772,17442044,17382906,17360471,17317952,17170520,16971495,16847254,16817852,16543730,16443776,16301825,16301823,16221215,16125969,16105029,16036218,15737648,15721303,15695387,15665527,15578212,15576372,15496163,15489334,15461589,15342340,15328345,15304560,15208094,15167446,15166308,15044175 1580967,1580968,1580969,1580970,2289157 6446 NM_005627,AF460178,AJ000512,AL135839,CH471051,Z84486,AF153609,AK055077,AK098509,BC001263,BC013832,BP384292,BQ183142,BX649005,CR596295,DB450096,Y10032 NP_005618,AAN40971,CAA04146,CAI19718,CAI19719,EAW47991,EAW47992,EAW47993,CAI21678,AAD41091,AAH01263,CAH10381,CAA71138,O00141,Q5TCN4,Q6AW81,Q8IZV4 Hs.510078 GDB:6268331 SGK protein-coding 1347154 SGK2 serum/glucocorticoid regulated kinase 2 This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Two alternate transcripts encoding two different isoforms have been described. 1580863 12397388,10548550,12632189,15790807,15578212,15489334,12634932,12477932,11780052,11707620 10110 NM_170693,NM_016276,CH471077,Z98752,AF169034,AF186470,AK289596,AY927520,AY987010,BC006523,BC014037,BC065511,BG420383,BT020098,CR613964,CR625759 NP_733794,NP_057360,EAW75955,EAW75956,CAC18509,CAI42312,CAI42313,CAI42315,AAF12757,AAG17012,BAF82285,AAX88805,AAH14037,AAH65511,AAV38901,Q5H8Y4,Q5H8Y5,Q9HBY8 Hs.300863 GDB:10030298 H-SGK2|dJ138B7.2 protein-coding 1354188 SGK3 serum/glucocorticoid regulated kinase family, member 3 This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 10548550,17167223,16888620,16790420,16543730,16485113,16341674,16036218,15737648,15578212,15496163,15489334,14604990,12634932,12632189,12590200,12477932,12397388,12218062,12054501,11884598,11751930,11749387,11707620,11514587,11035810,10585774,9373149,8125298,16189514 23678 NM_001033578,NM_013257,NM_170709,AC011031,AC090154,CH471068,CQ783554,AF085233,AF169035,AI127772,AK074666,AK223523,AK291428,AV714643,BC015326,BF665552,BI547053,BM739201,BX649057,CB995805,CR536581,CR933673 NP_001028750,NP_037389,NP_733827,EAW86919,EAW86920,CAF86721,AAF27051,AAF12758,BAD97243,BAF84117,AAH15326,CAG38818,CAI45969,Q53EW6,Q5H9Q5,Q6FHV7,Q96BR1 Hs.656798 GDB:9955242 CISK|DKFZp781N0293|SGK2|SGKL serum/glucocorticoid regulated kinase-like protein-coding 1345170 SGM1 segmentation syndrome 1 6438 GDB:135350 1352309 SGMS1 sphingomyelin synthase 1 The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. 737633,1580863 14685263,14976195,17982138,17616479,17467659,17449912,16713569,16508036,15489334,15315829,12477932,11841947,10544266 737633 259230 NM_147156,AC069547,AL117341,AL596137,CH471142,AB154421,AK026683,AY280959,AY312431,AY332650,AY364088,BC042899,BM141853,BM764008,BN000143,CR603488,Y14155 NP_671512,EAW80429,EAW80430,EAW80431,EAW80432,BAD16809,AAP37279,AAQ82051,AAQ22363,AAR13294,AAH42899,CAD79708,Q86VZ5 Hs.654698 MGC17342|MOB|MOB1|SMS1|TMEM23 transmembrane protein 23 protein-coding 1605563 SGMS2 sphingomyelin synthase 2 Sphingomyelin (SM) is a major component of plasma membranes. It is preferentially concentrated in the outer leaflet and has a role in the formation of lipid rafts. SM synthases (EC 2.7.8.27), such as SGMS2, produce SM in the lumen of the Golgi and on the cell surface through the transfer of phosphocholine from phosphatidylcholine onto ceramide, yielding diacylglycerol as a side product (Huitema et al., 2004 [PubMed 14685263]).[supplied by OMIM] 12477932,15489334,14685263,17982138,17616479,17449912 166929 NM_152621,AC096564,CH471057,AF452717,AK290344,AL833599,BC028705,BC041369,BX649142 NP_689834,EAX06211,EAX06212,EAX06213,AAP13352,BAF83033,AAH28705,AAH41369,Q8NHU3 Hs.595423 MGC26963|SMS2 protein-coding 1344948 SGOL1 shugoshin-like 1 (S. pombe) 737633 16541025,18084284,17621308,17617734,17448445,16628005,16580887,16112668,15737064,15723797,15604152,15489334,12747765,12477932 737633 151648 NM_138484,NM_001012410,NM_001012412,NM_001012413,NM_001012409,NM_001012411,AC099057,CH471055,AB187577,AB187578,AB187579,AB193062,AB193063,AB193064,AB193065,AB193066,AF308299,BC001339,BC017867,BC032696,BC039605,BX648516,AB187580,AB187581,AB187582,AB190994,AB193056,AB193057,AB193058,AB193059,AB193060,AB193061 NP_612493,NP_001012410,NP_001012412,NP_001012413,NP_001012409,NP_001012411,EAW64307,EAW64308,EAW64309,EAW64310,BAD89587,BAD89588,BAD95534,BAD95535,BAD95536,BAD95537,BAD95538,BAD95539,AAG48266,AAH01339,AAH17867,AAH32696,Q5FBB7,BAD89589,BAD89590,BAD89591,BAD89592,BAD91318,BAD95529,BAD95530,BAD95531,BAD95532,BAD95533 Hs.105153 NY-BR-85|Sgo1 protein-coding 1318224 SGOL2 shugoshin-like 2 (S. pombe) 16541025,17353931,18084284,16565220,16381901,15815621,15489336,15489334,14702039,12477932,11230166,11076863 151246 NM_152524,AC012459,AC080164,CH471063,AK057940,AK095291,AY094614,BC004567,BC035764,BC048349,BC092412,BC110583,BX647433 NP_689737,AAY24310,AAY24264,EAW70207,BAB71617,BAC04524,AAM21971,AAH35764,AAH48349,AAH92412,Q562F6,CAL37460,CAL37862 Hs.655182 FLJ25211|MGC129665|TRIPIN protein-coding 1347742 SGPL1 sphingosine-1-phosphate lyase 1 11018465,14570870,17373700,17090686,16777052,15489334,14702039,12477932,10574462,9464245,2061324 8879 NM_003901,AC073176,CH471083,AB033078,AF144638,AJ011304,AK023873,BC031338,BC041567,BC051238,BC052991,BC068061 NP_003892,EAW54414,BAA86566,AAD44755,CAA09590,AAH52991,O95470 Hs.499984 GDB:9957510 FLJ13811|KIAA1252|SPL protein-coding 1343984 SGPP1 sphingosine-1-phosphate phosphatase 1 1580863 17895250,17081983,16782891,15489334,15180992,12815058,12508121,12477932,12411432,10859351 81537 NM_030791,AL161670,CH471061,AF349315,AJ293294,BC063839,BC070060 NP_110418,EAW80834,AAK26660,CAC17772,AAH63839,AAH70060,Q9BX95 Hs.24678 SPPase1 protein-coding 1346522 SGPP2 sphingosine-1-phosphate phosphotase 2 1302442,1580863 17113265,14702039,12477932,12411432 1302442 130367 NM_152386,AC097461,AC112718,CH471063,AF542512,AK096323,BC106904,BC106905,BC114513,BC134342 NP_689599,AAX88957,AAY24195,EAW70801,AAN28731,BAC04762,AAI06905,AAI06906,AAI34343,Q3B870,Q4ZFX2,Q53QF5,Q8IWX5 Hs.591604 FLJ39004|SPP2 protein-coding 1345995 SGSH N-sulfoglucosamine sulfohydrolase (sulfamidase) This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. 1580332,1580333,1580863 7493035,15902564,15489334,15146460,14702039,12754519,12702166,12477932,11793481,11668611,11343308,10727844,10521831,9744479,9700599,9554748,9405287,9401012,9373149,9285796,9158154,8946167,8125298,6796310 1580332,1580333 6448 AC087741,AC123764,CH471099,U60111,AB209900,AK095969,AK222890,AK291257,AW274014,BC047318,BF445930,CR623882,DC319407,U30894,NM_000199 NP_000190,EAW89590,EAW89591,AAB17952,BAD93137,BAD96610,BAF83946,AAH47318,AAA86530,P51688,Q53GP1,Q59EB1 Hs.31074 GDB:1319101 HSS|MPS3A|SFMD protein-coding 1317805 SGSM1 small G protein signaling modulator 1 737633 17509819,12477932,11853319,8889548 737633 129049 NM_001039948,NM_133454,NM_001098497,NM_001098498,AL049759,AL050312,AP000359,AB075821,AB275761,AK123162,AK124850,AW028652,BC036915,BC111698,BM930881 NP_001035037,NP_597711,NP_001091967,NP_001091968,BAB85527,BAF63511,AAI11699,Q2NKQ1 Hs.474397,Hs.620906 KIAA1941|MGC133298|RUTBC2 protein-coding 1315867 SGSM2 small G protein signaling modulator 2 737633 17509819,16169070,12477932,9455477 737633 9905 NM_014853,NM_001098509,AC006435,CH471108,AB007857,AB275762,AK124883,AK125203,BC029251,BC039204,BC061895,CR590347,CR593254,CR596157,AL450226 NP_055668,NP_001091979,EAW90545,EAW90546,EAW90547,BAA23693,BAF63512,BAC85979,BAC86084,AAH39204,O43147,Q6ZV84 Hs.513861 KIAA0397|RUTBC1 protein-coding 1353613 SGSM3 small G protein signaling modulator 3 737633 17509819,15541357,15461802,14702039,12477932,11214971 737633 27352 NM_015705,AL022238,CH471095,AB196956,AB275763,AK000006,AL137499,AW512418,AY308849,BC008078,BC127850,BG741967,BU585020,CR456441,CR600121,CR608559,CR608708,CR620875,CR623292,CR625240 NP_056520,EAW60378,EAW60379,EAW60380,EAW60381,BAE02561,BAF63513,BAA92231,CAB70773,AAQ81879,AAH08078,AAI27851,CAG30327,Q96HU1,Q9NXX9,CAK54470,CAK54769,ABM84197,ABM87601 Hs.474914 DKFZp761D051|MAP|RUSC3|RUTBC3 protein-coding 735887 SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. 1580863 9740675,10567422,15489334,15302935,15057824,14729056,14667819,14623262,12815268,12735788,12482202,12477932,11878889,11230166,11076863,9766974,9573291,9557704,7966229,2158125,11256614,18332089,17081983,16964243,16777091,16580629,16381901,16189514,16169070,15972823,15710426,15489336 6449 NM_003021,AC006538,CH471139,AF368279,AF408399,AJ133129,AJ223828,AL050156,BC000390,BC002989,BC005165,BC008885,BG423904,CR533517,CR542282,CR595261,CR600446,CR602218,CR603333,CR605999,CR619830 NP_003012,AAD13117,EAW69366,EAW69367,EAW69368,AAP29457,AAL01051,CAB39725,CAA11565,CAB43297,AAH00390,AAH02989,AAH05165,AAH08885,CAG38548,CAG47077,O43765,Q6FIA9,CAL38336 Hs.203910 SGT|hSGT protein-coding 1353974 SGTB small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 737633,1580863 15489334,14702039,12477932,2158125,16189514 737633 54557 NM_019072,AC008560,AC008958,CH471137,AF075050,AF368281,AK096321,AL713334,BC012044 NP_061945,EAW51342,AAC28459,AAP29459,BAC04761,AAH12044,O75589,Q96EQ0 Hs.482301 FLJ39002|SGT2 protein-coding 1603671 SH2B1 SH2B adaptor protein 1 17471236,17228025,15767667,14702039,12551917,12477932,12421765,11940664,11827956,11751854,10757801,10718198,10708759,10594240,9856458,9742218,9343427,12370803 25970 AC133550,CH471267,AB037720,AF227967,AF227968,AF227969,AK027488,AK055104,AK290332,NM_015503,AL049924,AL713760,BC010704 NP_056318,EAW51999,EAW52000,EAW52001,EAW52002,EAW52003,EAW52004,EAW52005,BAA92537,AAF73912,AAF73913,AAF73914,BAB55148,BAF83021,CAB43208,CAD28530,AAH10704,Q9NRF2 Hs.15744 DKFZp547G1110|FLJ30542|KIAA1299|SH2-B|SH2B protein-coding 736917 SH2B2 SH2B adaptor protein 2 The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt lymphoma cell lines, it is tyrosine phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to Shc/Grb2. 1625124 10374881,9233773,9989826,17204555,16141217,15809095,15737992,15231829,15031295,12400014,12101115,11997497,11751854,10872802,10196204,9856458,9799793 1625124 10603 NM_020979,AC005088,AC091390,CH471197,AB000520 NP_066189,EAW50232,EAW50233,BAA22514,O14492 Hs.489448 APS protein-coding 68607 SH2B3 SH2B adaptor protein 3 T-cell activation requires stimulation of the T-cell receptor (TCR; see MIM 186880)-CD3 (see CD3Z; MIM 186780) complex, followed by recruitment of an array of intracellular signaling proteins (e.g., GRB2 (MIM 108355) and PLCG1 (MIM 172420)). Mediating the interaction between the extracellular receptors and intracellular signaling pathways are adaptor proteins such as LAT (MIM 602354), TRIM (MIM 604962), and LNK.[supplied by OMIM] 18311140,17007883,16644735,12477932,11805142,11163396,10799879,9169414,8995445,8649391,16189514 10019 NM_005475,AC002395,AC005805,CH471054,AB208911,AF055581,AJ012793,AK025666,AK025745,BC015786 NP_005466,EAW97955,EAW97956,BAD92148,AAC71695,CAB42642,AAH15786,Q59H48,Q96BA5,Q9UQQ2 Hs.506784 LNK protein-coding 1346207 SH2D1A SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 9774102,18212118,18051214,18031694,18024409,18000860,17922402,17692919,17643931,17620557,17455312,17171759,16983070,16344560,16223723,16002423,15772651,15738056,15711562,15677558,15661039,15489334,15378026,15356108,15320910,15315965,15195244,14726378,14707094,14674764,14523387,12951057,12928397,12766168,12594824,12545174,12477932,12458214,12356686,12152986,12115647,12008045,11815622,11806999,11803050,11493483,11489943,11477403,11477068,11389028,11313386,11054674,11034354,10852966,10549287,9811875,9771704,8387453,8361760,10607564 4068 NM_001114937,NG_007464,AL022718,CH471107,AA190204,AF072930,AF073019,AF100539,AF100540,AF100541,AF100542,AF100543,AK311645,AK311911,AL023657,BC020732,NM_002351,BP432686,CR542031,CR542043,DA007747 NP_002342,NP_001108409,CAA18777,EAX11847,EAX11848,EAX11849,EAX11850,EAX11851,AAC62630,AAC62631,AAC79712,AAC79713,AAC79714,AAC79715,AAC79716,BAG34852,CAA19222,AAH20732,CAG46828,CAG46840,O60880,Q6FGS6,ABM86090,ABW03773 Hs.349094 GDB:120701 DSHP|EBVS|FLJ18687|FLJ92177|IMD5|LYP|MTCP1|SAP|XLP|XLPD protein-coding 1606747 SH2D1B SH2 domain containing 1B By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM] 9000139,16920955,16710414,15489334,14702039,12787752,12477932,12115647,11689425,11244050 117157 AF020264,AL512785,CH471067,AF256653,AF403479,AF484964,AK097162,AL709120,BC022407,BC066595,NM_053282 NP_444512,AAB70927,CAI15780,EAW90703,EAW90704,EAW90705,AAL26000,AAL27357,AAM28522,BAC04968,AAH22407,AAH66595,O14796,ABM82901,ABM86092 Hs.350581 EAT2 protein-coding 1345635 SH2D2A SH2 domain protein 2A 1358573,1580863 9468509,10553045,17327418,16710414,15962004,15752554,15592455,15489334,15129233,12477932,11528519,10752626,10692392,10587356,9373149,8125298 1358573 9047 NM_003975,NG_007493,AF106072,AL158169,AL590666,CH471121,AF051325,AF097744,AJ000553,AK222737,AY763098,AY763099,AY763100,BC012107 NP_003966,AAF69027,CAH70007,CAH70008,CAI16336,CAI16337,EAW52905,EAW52906,EAW52907,AAC99298,AAF43260,CAA04185,BAD96457,AAV34673,AAV34674,AAV34675,AAH12107,Q5UBZ1,Q5UBZ2,Q5UBZ3,Q5VZS4,Q9NP31 Hs.103527 GDB:9954804 F2771|TSAd protein-coding 1348075 SH2D3A SH2 domain containing 3A 1580863 10187783,17270363,15489334,14702039,12975309,12477932,9373149,8125298 10045 Q9BRG2 AK024368,AK225386,AY358406,BC006281,NM_005490,AC008760,AC020954,CH471139,AF124249 AAD28244,AAQ88772,AAH06281,Q9BRG2,ABM83676,ABM86973,NP_005481,EAW69059 Hs.439645 GDB:9954927 NSP1 protein-coding 1316391 SH2D3C SH2 domain containing 3C 10187783,17270363,16189514,15489334,15272013,15164053,14702039,12975309,12486027,12477932,10692442,10542222 10044 Q5JU30,Q5JU31,Q5JU32,Q8N5H7 BC032365,BX647905,AY358089,BC027962,NM_170600,NM_005489,AL162426,AL162586,CH471090,AF124251,AJ420431,AK056068,AK096983,AK128287,AY358440 AAH27962,AAH32365,CAI46101,Q5JU30,Q5JU31,Q5JU32,Q8N5H7,AAQ88456,NP_733745,NP_005480,CAI41176,CAI41177,CAI41178,CAI41179,CAI41182,CAI39760,CAI39761,CAI39762,CAI39763,CAI39766,EAW87695,AAD28246,AAQ89948 Hs.306412 GDB:9954926 CHAT|FLJ39664|NSP3|PRO34088 protein-coding 1317502 SH2D4A SH2 domain containing 4A 1580863 16189514,17353931,17081983,16964243,15489334,15302935,14702039,12477932,12476414,9373149,8125298 63898 NM_022071,AC068880,CH471080,AK024620,AK024799,AK225052,AY190323,BC014525,BC067117,BC082982 NP_071354,EAW63773,BAB14935,BAB15010,AAO41715,AAH14525,AAH67117,AAH82982,Q9H788 Hs.303208 FLJ20967|SH2A protein-coding 1323129 SH2D4B SH2 domain containing 4B 14702039 387694 NM_207372,AC021028,AL731544,AK091518,AK123885,AK123978 NP_997255,BAC03683,BAC85715,BAC85741,Q5SQS6,Q5SQS7,Q8NB58 Hs.147643 FLJ41984 protein-coding 1602949 SH2D5 SH2 domain containing 5 16710414,14702039 400745 AK123236,AK123841,AK124869,DC382086,NM_001103160,NM_001103161,AL663074,CH471134 BAC85974,Q6ZV89,NP_001096630,NP_001096631,CAI23391,CAI23392,EAW94947,EAW94949 Hs.591522 FLJ41242|FLJ41847|FLJ42879 protein-coding 1606407 SH2D6 SH2 domain containing 6 14702039,12477932 284948 NM_198482,AC016753,AF450483,AK093312,AY517502,BC110073 NP_940884,AAP97677,AAR98781,AAI10074,Q2YDT5,Q7Z4S9 Hs.209542 FLJ35993 protein-coding 1346069 SH3BGR SH3 domain binding glutamic acid-rich protein 1580863 9050928,16780588,15489334,14767758,12477932,12358155,10830953,8889548 6450 NM_001001713,NM_007341,AF121781,AF121897,AL163279,AL163280,CH471079,AI338732,BC006371,BM474020,BM697281,BT006994,X93498 NP_001001713,NP_031367,AAD12067,CAB90456,CAB90445,EAX09637,EAX09638,EAX09639,EAX09640,AAH06371,AAP35640,CAB57259,P55822,Q53Y47 Hs.473847 GDB:4164549 21-GARP protein-coding 1352415 SH3BGRL SH3 domain binding glutamic acid-rich protein like 1580863 9642120,16130169,16186799,16080146,15772651,15489334,12477932,11230166,8589991,1602151,16729043 6451 CR595122,CR593159,CR599092,CR599935,CR606366,CR615098,CR615275,CR620035,NM_003022,AL357115,CH471104,AF042081,AK024892,AK129610,AL136718,BC016709,BC103762,CR533478,CR590536,CR591928 O75368,NP_003013,CAI39436,EAW98579,EAW98580,EAW98581,AAC27445,CAB66652,AAH16709,AAI03763,CAG38509 Hs.108029 GDB:9806352 MGC117402|SH3BGR protein-coding 1314135 SH3BGRL2 SH3 domain binding glutamic acid-rich protein like 2 1580863 14574404,12477932,12095696,9110174,8619474 83699 AL035700,AL451064,CH471051,AF131754,AF340151,AJ297972,AK074506,BC040489,BC052987,BC060799,BC070059,BC109043,BC109044,NM_031469 NP_113657,CAH70932,EAW48703,AAK37526,CAC35771,AAH40489,AAH52987,AAH60799,AAH70059,AAI09044,AAI09045,Q2VPC2,Q5VV96,Q6NSK8,Q6P9E8,Q7Z734,Q8IWD3,Q9UJC5 Hs.302772 GDB:11507809 FLJ90025 protein-coding 1317706 SH3BGRL3 SH3 domain binding glutamic acid-rich protein like 3 1580863 15907482,15489334,12477932,11444877,11344125,11211881,11137621,10554026 83442 NM_031286,AL451139,CH471059,AF247790,AF304163,AF466367,AJ297915,AK024884,BC030135,CR593489,CR612702,DB482618 NP_112576,CAI15826,CAI15827,EAX07831,EAX07832,AAL95695,AAG41412,AAO33388,CAC35770,AAH30135,Q5T122,Q86Z22,Q9H299,ABM84303,ABM87697 Hs.109051 GDB:11507811 SH3BP-1|TIP-B1 protein-coding 1314801 SH3BP1 SH3-domain binding protein 1 1580863 12029088,15489334,15461802,14702039,12477932,10591208,16189514,1379745,10508610,9548756,10764144 23616 NM_018957,CH471095,Z83844,AK124370,AK126556,AL157480,AW452539,AY364241,BC008282,CR456576,CR593618,CR594688 NP_061830,EAW60171,EAW60172,EAW60173,EAW60174,CAI20370,BAC85842,BAC86592,CAB75671,AAQ76800,AAH08282,CAG30462,Q3ZTT7,Q6ZTJ5,Q9H752,Q9Y3L3,CAK54606,CAK54905,ABM83584,ABM86824 Hs.601143 GDB:10450280 protein-coding 1321583 SH3BP2 SH3-domain binding protein 2 1599339,1580863 9299232,17544554,17321449,17306257,17156730,17147794,16802602,16713042,16177062,15751964,15489334,15345594,15117958,14759258,14757747,14577811,12900899,12709437,12501243,12477932,12200378,11390470,11381256,10409713,10364528,10364527,9846481,9734812,9373149,8438166,8125298 1599339 6452 NM_001122681,AL121750,CH471131,CQ834812,AB000462,AB000463,AF000936,AK124073,NM_003023,AK126537,AK225497,AK312286,BC022996,CR619042,U56386 NP_003014,NP_001116153,EAW82506,EAW82507,EAW82508,EAW82509,EAW82510,EAW82511,EAW82512,EAW82513,CAH05621,BAA19119,BAA19120,AAB59973,BAC85767,BAC86582,BAG35213,AAH22996,AAB72034,P78314,Q6ZTK4,Q6ZVU3 Hs.167679 GDB:3750453 3BP2|CRBM|CRPM|FLJ42079|RES4-23 protein-coding 731485 SH3BP4 SH3-domain binding protein 4 This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. 724635 17353931,10644451,16964243,16325581,15815621,15616480,15489334,15324660,12477932,9303539,7568168,15778465 724635 23677 NM_014521,AC010148,AC114814,CH471063,AF015043,AF147747,AK291209,BC057396,BX647198,BX648877,DQ232895 NP_055336,AAY14916,AAY24025,EAW71076,EAW71077,AAD01551,AAF33022,BAF83898,AAH57396,ABB18377,Q9P0V3 Hs.516777 GDB:10794806 BOG25|TTP protein-coding 733305 SH3BP5 SH3-domain binding protein 5 (BTK-associated) 1580863 9571151,10339589,16964243,15506969,15489334,15158451,15146197,14702039,12477932,12167088,10702676,16189514 9467 NM_001018009,NM_004844,AC087590,CH471055,AA843106,AB005047,AK090524,AL117422,AW673562,BC006169,BC010123,BC023195,BG475051,BX114836,BX641159,CN402267,CR592833,CR601004 NP_001018009,NP_004835,EAW64225,EAW64226,EAW64227,EAW64228,BAA25922,CAI46220,AAH10123,CAE46071,O60239,Q6MZG3,ABM83801,ABW03526 Hs.257761,Hs.654642 GDB:9956783 SAB protein-coding 1606500 SH3BP5L SH3-binding domain protein 5-like 16189514,14702039,12975309,12477932,11230166,11214970,15324660 80851 NM_030645,AL732583,CH471257,AB051507,AK056345,AK056382,AK091164,AK125138,AK125837,AL136569,AY358453,BC010871,BC011962,BC017254,CR606601,CR613756,CR624935 NP_085148,CAI18798,EAW57534,EAW57535,EAW57536,BAB21811,BAB71158,BAB71171,CAB66504,AAQ88818,AAH10871,AAH11962,AAH17254,Q7L8J4,Q96ET3,Q96MW4 Hs.298573 FLJ33845|KIAA1720 protein-coding 1605862 SH3D19 SH3 domain containing 19 17672918,15280379,14702039,14551139,12477932,12615363 152503 NM_001009555,AC095055,CH471056,AK092528,AK128493,AK291025,AL133047,BC010110,BC032404,BC032468,BC045742,BC085613,BC108890,BC108891,BC108892,BC108893,BX647422,CR593109 NP_001009555,EAX04986,EAX04987,BAF83714,CAB61374,AAH10110,AAH32468,AAH45742,AAH85613,AAI08891,AAI08892,AAI08893,AAI08894,CAI46052,Q5HYK7,Q6PJX8 Hs.567725 EBP|EVE1|Kryn|MGC105136|MGC118910|MGC118911|MGC118912|MGC118913|SH3P19 protein-coding 1351797 SH3GL1 SH3-domain GRB2-like 1 16169070,9169142,16189514,16115810,15944398,15752756,15489334,15214844,15077184,14702039,14551139,12477932,12034747,10816441,10764144,10542231,9238017,9122235,11894096 6455 NM_003025,AC007292,AC011498,AF190465,CH471139,AK097616,AY364240,BC000089,BC001094,BC001270,BC014387,BC098565,CR542087,CR591966,CR592875,CR593755,CR597141,CR602738,CR613203,CR618121,CR622297,U65999,X99656 NP_003016,AAD24591,AAF04290,EAW69227,EAW69228,EAW69229,AAQ76799,AAH00089,AAH01094,AAH01270,AAH14387,AAH98565,CAG46884,AAB86800,CAA67970,Q6FGM0,Q99961,Q9BVL7,Q9BWP4,Q9UQD4,ABM82184,ABM85370 Hs.97616 GDB:4559290 CNSA1|EEN|MGC111371|SH3D2B|SH3P8 protein-coding 1343139 SH3GL2 SH3-domain GRB2-like 2 1580863 14684745,12477932,12177062,12127567,12034747,11894096,11877424,11384986,11292345,10816441,10764144,10542231,10535961,10531379,9341169,9315708,9238017,9122235,16189514,16115810,9169142,10567358,11894095,12218189,15962011,11157096,18239974,17081983,16713569,16606361,16169070,15164053 6456 NM_003026,AL133214,AL139115,CH471071,AB206840,AF036268,AK057744,BC032825,BT019682,BX538074,CR542086,CR542102,CR601861,X99657 NP_003017,EAW58661,EAW58662,EAW58663,BAE44459,AAC04764,AAH32825,AAV38488,CAD97999,CAG46883,CAG46899,CAA67971,Q3V639,Q7Z376,Q8IZ09,Q99962 Hs.75149 GDB:4559291 CNSA2|EEN-B1|FLJ20276|FLJ25015|SH3D2A|SH3P4 protein-coding 731323 SH3GL3 SH3-domain GRB2-like 3 1580863 16115810,9169142,16713569,16169070,15919751,15383276,14551139,12477932,12477732,12177062,12135478,12034747,11894096,10816441,10764144,10542231,10535961,9809064,9238017,9122235 6457 NM_003027,AC025483,AC087738,AC090083,CH471188,AF036269,AF036270,AF036271,AF036272,AL109775,BC035598,BC042864,X99664 NP_003018,EAW62419,EAW62420,EAW62421,EAW62422,EAW62423,AAC04765,AAC04766,AAC04767,AAC04768,CAB52431,AAH42864,CAA67978,Q8IVP1,Q99963,Q9UMB8 Hs.270055,Hs.666365 GDB:4559292 CNSA3|EEN-2B-L3|EEN-B2|HsT19371|SH3D2C|SH3P13 protein-coding 1312539 SH3GLB1 SH3-domain GRB2-like endophilin B1 11161816,16916719,16763557,16710414,16227588,15489334,15452144,14704270,14702039,12477932,12456676,11259440,10810093,10531379,9455484,9373149,8125298,16189514 51100 AL049597,NM_016009,CH471097,AB007960,AF151819,AF257318,AF263293,AF350371,AK001954,AK225864,BC007455,CR591663,CR600351,CR617496,DB451777 CAC10394,CAC10395,NP_057093,EAW73181,EAW73182,BAD88797,AAD34056,AAF81225,AAF73017,AAK27365,BAA91999,AAH07455,Q9Y371,ABM83955,ABM87272 Hs.136309 GDB:10796830 Bif-1|CGI-61|KIAA0491|dJ612B15.2 protein-coding 1314186 SH3GLB2 SH3-domain GRB2-like endophilin B2 1580863 16518874,11161816,18303116,16189514,15498874,15489334,15164053,14559993,12477932,11347906 56904 NM_020145,AL592211,CH471090,AB058751,AF257319,AF258589,AF370426,AF370433,AL832592,BC005843,BC008029,BC014635 NP_064530,CAI12365,CAI12366,EAW87854,EAW87855,EAW87856,EAW87857,EAW87858,EAW87859,EAW87860,BAB47477,AAF81226,AAG23792,AAQ15262,AAQ15269,AAH14635,Q71RA6,Q71RB2,Q9NR46 Hs.460238 GDB:10796831 KIAA1848|PP6569|PP9455 protein-coding 1345626 SH3GLP1 SH3-domain GRB2-like pseudogene 1 9169142 6458 NG_006135,AC090616,X99658,X99659 Hs.672460 GDB:4559295 CNSA-P1 pseudo 1349582 SH3GLP2 SH3-domain GRB2-like pseudogene 2 9169142 6459 NG_005642,AC005562,X99660,X99661 Hs.684860,Hs.684861 GDB:4559294 CNSA-P2 pseudo 1352293 SH3GLP3 SH3-domain GRB2-like pseudogene 3 9169142 727736 NG_005643,AC005332,X99662 Hs.647405 GDB:4559293 CNSA-P3 pseudo 732890 SH3KBP1 SH3-domain kinase binding protein 1 CBL (MIM 165360) constitutively interacts with SH3 domain-containing proteins and, upon tyrosine phosphorylation, with SH2 domain-containing proteins. The SH3KBP1 gene encodes an 85-kD CBL-interacting protein that enhances tumor necrosis factor (MIM 191160)-mediated apoptotic cell death (Narita et al., 2001 [PubMed 11474197]).[supplied by OMIM] 1580863 15090612,14596919,12946264,12829691,12771190,12734385,12690097,12618476,12477932,12242006,12177062,12135478,11894096,11474197,11152963,11071869,10921882,10858458,9857189,9507006,8889549,7566098,16189514,12029088,10679202,10567358,11894095,12218189,15962011,16407834,18048363,17823309,17675467,17606992,17306257,17255943,17081983,16895919,16751601,16678097,16256071,16228008,16223483,16177060,16083285,15824310,15761153,15719014,15707590,15489334,15456872,15147912,15144186 30011 NM_001024666,AL732325,AL732327,AL732409,AL732423,AL772197,CH471074,CS300518,AF230904,AF329267,AF329268,AF542051,AY423734,AY542305,BC015806,BC050663,NM_031892 NP_001019837,CAI41253,CAI41254,CAI40510,CAI40511,CAI40512,CAI40513,CAI40514,CAI40515,CAH71710,EAW98964,EAW98965,EAW98966,EAW98967,CAK32182,AAF37854,AAK95587,AAO13348,AAN77231,AAS00497,AAT08174,AAH15806,AAH50663,Q5JPR3,Q5JPR5,Q5JPT1,Q5JPT3,NP_114098,Q5JPT5,Q5JPT6,Q96B97,ABM83313,ABM86526 Hs.444770 GDB:11504557 CIN85|GIG10|MIG18 protein-coding 1344960 SH3MD4 SH3 multiple domains 4 16374509,14702039 344558 NM_001099289,AC010906,AC109344,AC133109,AC139850,AC140485,AK074131,AK093821,AL831825,DQ307286 NP_001092759,BAB84957,CAD38539,ABC25188,Q8TEJ3 Hs.535157,Hs.667554 FLJ00204|POSH2 protein-coding 1322510 SH3PXD2A SH3 and PX domains 2A 17440933,15710903,15710328,15164054,15146197,14702039,12615925,9687503,9455477 9644 BX647371,NM_014631,AL121929,AL133355,CH471066,AB007878,AK025783,AK056469,AK096575,AK123570,AL833070,CN307901,CR608729 NP_055446,CAI13961,CAI13962,CAI13963,CAI15351,CAI15352,EAW49622,EAW49623,EAW49624,EAW49625,BAA24848,CAD89969,Q5TCZ1,Q86T68,AAI46310,AAI56573 Hs.594708 FISH|SH3MD1 sh3 multiple domains 1 protein-coding 1349978 SH3PXD2B SH3 and PX domains 2B 737633 14702039,12477932,11181995,10718198 737633 285590 NM_001017995,AC008671,AC011407,AC090064,CH471062,AB037716,AK000838,AK095834,AK128871,BC016513,BC038561,BC065230,BC110316,DQ109556 AAI56243,AAI57117,NP_001017995,EAW61431,EAW61432,EAW61433,EAW61434,EAW61435,BAA92533,BAA91395,AAZ99795,A1X283,Q9NWI5 Hs.285666 FLJ20831|HOFI|KIAA1295 kiaa1295 protein-coding 1348094 SH3RF1 SH3 domain containing ring finger 1 This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. 1302763,1580863 17535800,16344560,15659549,14702039,14504284,12477932,12421765,10819331,9482736 1302763 57630 NM_020870,AC021151,AC096741,AC104783,CH471056,AB040927,AK021429,AK025255,AK026726,BC033203,BC041023,BC053671,DA292937 NP_065921,EAX04792,EAX04793,EAX04794,BAA96018,BAB13822,AAH33203,AAH41023,AAH53671,Q7Z6J0 Hs.301804 FLJ21602|KIAA1494|POSH|RNF142|SH3MD2 sh3 multiple domains 2 protein-coding 1318168 SH3RF2 SH3 domain containing ring finger 2 737633,1580863 15489334,14702039,12477932 737633 153769 NM_152550,AC005216,AC005351,AC011359,AC091887,CH471062,AK058046,AK074234,AK292576,AL833297,BC031650,BC073914,BC125106,BC125107 NP_689763,EAW61852,EAW61853,EAW61854,BAB71639,BAB85025,BAF85265,AAH31650,AAH73914,AAI25107,AAI25108,Q08AM8,Q8TEC5 Hs.443728 FLJ23654|MGC149788|MGC149789|MGC90410|RNF158 protein-coding 1313741 SH3TC1 SH3 domain and tetratricopeptide repeats 1 1580863 14702039,12477932,9373149 54436 NM_018986,AC104650,CH471131,AK000363,AK057561,AK074093,AK074402,AK093562,AK126165,AK128258,AK222865,BC030283,BC068094,BC131785 NP_061859,AAY40932,EAW82347,EAW82348,EAW82349,EAW82350,EAW82351,EAW82352,EAW82353,BAA91112,BAB84919,BAB85071,BAC87357,BAD96585,AAH68094,AAI31786,Q4W5G5,Q53GR6,Q6NVH2,Q6ZRF3,Q8TE82,Q8TEM9,Q9NXA4 Hs.479116 FLJ20356|FLJ32999|FLJ36243|FLJ46394 protein-coding 1348846 SH3TC2 SH3 domain and tetratricopeptide repeats 2 This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. 1580863 17470135,16344560,16326826,15498874,15489334,14702039,14574644,12477932,11853319,11752282,11716477,8894708 79628 AC011364,AC116312,AB075865,AF086088,AF370410,AK023641,AK023667,AK092408,AK124854,AK127050,AK127241,AK127248,AK127442,AK128209,AL832651,AY341075,CR595950,CR608321,DA856608,BC113879,BC114486,NM_024577,AB070621 BAB85571,AAQ15246,BAB14631,BAC86899,AAI14487,Q14CC0,Q8TF17,AAR03497,AAI13880,NP_078853 Hs.483784 CMT4C|FLJ13605|KIAA1985 protein-coding 1315058 SH3YL1 SH3 domain containing, Ysc84-like 1 (S. cerevisiae) 737633 16189514,14702039,12615363,12477932,10771491 737633 26751 NM_015677,AC079779,AK026507,AK026586,AK055801,AK096440,AK123829,AK292312,AL050373,BC008374,BC008375,BC013286,BC030778,BC034974,BC043234,BC043403,CR457361,CR595739,CR603113,CR622262,CR623594 NP_056492,AAY14957,BAB15493,BAF85001,CAB43679,AAH08374,AAH08375,AAH30778,AAH34974,CAG33642,Q8NEL2,Q96HL8,Q9H5X4,Q9Y3V5 Hs.515951 DKFZP586F1318|FLJ39121|Ray protein-coding 734100 SHANK1 SH3 and multiple ankyrin repeat domains 1 1580863 11509555,11178875,11087996,10964907,10958799,10806096,10433269,10433268,10551867,11583995,16192279,15673434,12954649,12753155,12626503,12504591 50944 NM_016148,AC008743,AC010325,CH471135,AF163302,AF226728 NP_057232,EAW71893,EAW71894,AAD45121,AAF35887,Q9Y566 Hs.274255 GDB:11504377 SPANK-1|SSTRIP|synamon shank1 protein-coding 736232 SHANK2 SH3 and multiple ankyrin repeat domains 2 This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. 10506216,11583995,17081983,16554811,16293618,15489334,14702039,12626503,12504591,12477932,11087996,10964907,10806096,10527873,10470851,10433269,10373412,9742101,9110174,8619474 22941 NM_133266,AP000590,AP001271,CH471076,U73633,AA464273,AB028945,AF131790,AF141901,AK095088,AK096045,AK128563,NM_012309,BC041371,BC093885,BC112097,BC113876,BC114484,BX648718,DQ152234 NP_036441,NP_573573,EAW74771,EAW74772,EAW74773,EAW74774,EAW74775,EAW74776,EAW74777,EAW74778,EAW74779,BAA82974,AAF02496,AAH93885,AAI12098,AAI14485,AAZ77790,Q24JS4,Q9UPX8 Hs.268726 GDB:11504312 CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3 proline rich synapse associated protein 1 protein-coding 732251 SHANK3 SH3 and multiple ankyrin repeat domains 3 1599213 17999366,17173049,16284256,14702039,12920066,12504591,12477932,11431708,11258795,10806096,10414979,12626503 1599213 85358 NM_001080420,AC000036,AC000050,DQ173561,AB051437,AK074038,BC018856,BC045765,BC062987,CR617746,CR625313 NP_001073889,ABA00478,BAB33320,BAB84864,AAH62987,Q3S3B4,Q6P5A2,Q9BYB0 Hs.149035 GDB:11507813 KIAA1650|PROSAP2|PSAP2|SPANK-2 sh3/ankyrin domain gene 3 protein-coding 1603608 SHARPIN SHANK-associated RH domain interactor 15489334,12753155,12477932,11230166,11178875 81858 NM_030974,AC104592,CH471162,CS051355,AB052764,AB052765,AK075518,AL136816,BC002688,BC017230,BC025244,BC034028,BE877614,BI911222 NP_112236,EAW82150,EAW82151,EAW82152,EAW82153,EAW82154,EAW82155,EAW82156,CAI72172,BAC53797,BAC53798,BAC11666,CAB66750,AAH02688,AAH17230,AAH25244,AAH34028,Q6PJD5,Q9H0F6 Hs.529755 DKFZP434N1923|SIPL1 protein-coding 1350494 SHB Src homology 2 domain containing adaptor protein B 1580863 8302579,16971391,16630561,16569669,15951569,15919073,15489334,15164053,15026417,14702039,12520086,12477932,12464388,12200137,12181353,12084069,11786545,10964504,10837138,10828022,10488157,9751119,9484780,8806685,7713524,7537362 6461 AL138752,AL161448,AL583849,CH471071,AK055947,BC029953,BC094765,X75342,NM_003028 NP_003019,EAW58254,EAW58255,AAH94765,CAA53091,Q15464 Hs.521482 GDB:335256 RP11-3J10.8|bA3J10.2 protein-coding 736172 SHBG sex hormone-binding globulin 1625245,1580863 2587256,14718574,18477206,18464913,18437557,18318428,18192296,18188141,18056923,18047273,17992261,17893265,17890489,17884445,17706202,17684316,17507624,17411440,17315164,17258903,17220347,17189294,17176215,17077994,17027364,17027360,16982738,16949385,16926255,16896040,16757555,16394089,16335952,16331562,16251630,16155373,15894658,15879463,15862967,15784702,15755867,15668497,15664449,15634719,15574421,15489334,15292305,15199113,15193539,15146368,15111517,14764814,14694008,14671199,14568572,12861158,12800098,12753385,12679434,12603009,12477932,12235141,12228253,12151349,12081841,12065592,12054810,12039072,12015315,11473114,11140838,10675319,10419028,10391209,8964583,7714097,3702459,3569533,3542030,2956126,2956125,2608061,2249477,1400872 1625245 6462 EU352663,EU352664,EU352665,EU352666,EU352667,EU352668,EU352669,X05403,X05792,X05885,X16351,NM_001040,AC007421,CH471108,M31651,X16349,X16350,BC069597,BC101785,BC112186,EU352656,EU352659,EU352660,EU352661,EU352662 ABY68000,ABY68001,ABY68002,ABY68004,ABY68005,ABY68006,ABY68007,ABY68008,CAA28987,CAA29234,CAA29309,CAA34400,P04278,NP_001031,EAW90149,EAW90150,AAC18778,CAA34398,CAA34399,AAH69597,AAI01786,AAI12187,ABY68003,ABY67997,ABY67998,ABY67999 Hs.632235 GDB:125280 ABP|MGC126834|MGC138391|TEBG protein-coding 1346921 SHC1 SHC (Src homology 2 domain containing) transforming protein 1 1304398,1625124,1580863,1642523,1643173,1643176,1643171,1643177,1643188,1643185 8195171,8183561,8125298,8035825,7961936,7933095,7929214,7806213,7791787,7731718,7675451,7650013,7635484,7556090,7544443,7544002,7541035,7535773,7524086,7514169,7499194,7473762,16436505,12871937,10822173,7537361,8874179,8723348,8643691,16729043,16189514,11432829,8626541,7657612,8943228,8610109,8577769,9047383,9202037,10681566,8887653,10964917,9148935,8155326,7515480,7542991,10891441,8112292,8084588,10340378,8890167,11075717,11044453,11027663,10996427,10971656,10921922,10896916,10816433,10790433,10783152,10764799,10749680,10748054,10704825,10662798,10652211,10650943,10623845,10602027,10570290,10559276,10482988,10477722,10457218,10382761,10086341,10037694,9927207,9872323,9824671,9741627,9710588,9710204,9694850,9685404,9660833,9659899,9632636,9614102,9446569,9388490,9378963,9373149,9346925,9344843,9325171,9233773,9223670,9209414,9192859,9174053,9126968,9121430,9096689,9083103,9058724,9049300,9047384,9045663,8940017,8939605,8918464,8776723,8761298,8662998,8662748,8656061,8643566,8628261,8617812,8557643,8524391,8400282,8294403,8226808,16519809,16487929,16481327,16257509,16186108,16170380,15992607,15951569,15888547,15753984,15705774,15688026,15592455,15562031,7537849,7559478,7541045,14676841,8491186,15489334,15485499,15316024,15308584,15226408,15094067,15036421,14990987,14983012,14764897,14749389,14702039,14573619,14530863,12789267,12589038,12586295,12577067,12522270,16756945,12477932,12446583,12400011,12237775,12069755,12048194,12024011,12009895,11980671,11950700,11948181,11903040,11896612,11884620,11884411,11877420,11855827,11773443,11724572,11714803,11707405,11707404,11707390,11694516,11607835,11505033,11302736,11094073,11520933,1623525,7739560,8493579,8810325,9544989,9690470,14665640,18093973,18067454,18032526,17998013,17938255,17908971,17906149,17380301,17167775,17158237,17081983,17081113,16934220,16825188 1304398,1625124,1642523,1643173,1643176,1643171,1643177,1643188,1643185 6464 CH471121,Y09847,AB208849,AK096169,AK130014,AK225332,AK292143,AK315842,BC011813,BC014158,BC017283,BC033925,BX647136,BX647149,U73377,X68148,NM_003029,NM_183001,AF455141,AL451085 CAI13251,CAI13252,CAI13253,CAI13254,EAW53167,EAW53168,EAW53169,EAW53170,EAW53171,CAA70977,BAD92086,BAF84832,BAF98733,AAH14158,AAH33925,AAB49972,CAA48251,P29353,Q59HB0,Q5T181,Q5T182,Q5T187,Q5T188,Q8NFT0,Q8NFT1,NP_003020,NP_892113,AAM61859,AAM61860,CAI13245,CAI13246,CAI13247,CAI13248,CAI13249,CAI13250 Hs.433795 GDB:134808 FLJ26504|SHC|SHCA|p52SHC|p66|p66SHC protein-coding 1353619 SHC1P1 SHC (Src homology 2 domain containing) transforming protein 1 pseudogene 1 9192859 6465 NG_001195,Y09846 GDB:6065015 pseudo 1350366 SHC2 SHC (Src homology 2 domain containing) transforming protein 2 1299208,1580863 7527937,11520933,16368877,15057824,12477932,12006576,9507002,8760305,10749680 1299208 25759 NM_012435,AC006124,AC008988,AC138433,AB001451,AL134433,AL360254,BC030527,BC034544,BC048290,BQ025513,BU754380,BY796046,CF457169,CK826553,CR617776 NP_036567,BAA25798,CAB96175,P98077,AAI56110,AAI56899 Hs.30965 SCK|SHCB|SLI protein-coding 737159 SHC3 SHC (Src homology 2 domain containing) transforming protein 3 11877420,8808684,11520933,17919311,17179996,15940252,15870690,15735675,15489334,12477932,12446789,12242309,12185581,12006576,11812778,9507002,9345034,8760305,8610109,16436505,9325171 53358 NM_016848,AL160054,AL353150,CH471089,BC026314,BX641139,D84361 NP_058544,CAI16864,CAI16865,EAW62759,EAW62760,AAH26314,BAA12322,BAA12323,Q5T7I7,Q5T7I8,Q92529,ABM87662 Hs.656806 N-Shc|NSHC|RAI|SHCC src homology 2 domain-containing transforming protein c3 protein-coding 1602620 SHC4 SHC (Src homology 2 domain containing) family, member 4 17452444,17409413,12975309,12477932 399694 NM_203349,AC012379,AC091073,AK124916,AK125762,AW102644,AY358250,AY464565,BC033907 NP_976224,AAQ88617,AAR19363,AAH33907,Q6S5L8 Hs.642615 MGC34023|RaLP|SHCD protein-coding 1354140 SHCBP1 SHC SH2-domain binding protein 1 17353931,16964243,16189514,15489334,15302935,15009096,14702039,12477932,10086341,9373149,8125298,15778465,15324660 79801 NM_024745,AC092368,CH471092,AK025662,AK055931,AK225315,AK292164,BC000960,BC030699 NP_079021,EAW82680,EAW82681,BAB15208,BAB71049,BAF84853,AAH00960,AAH30699,Q8NEM2,ABW03683,ABW03337,ABW03345 Hs.123253 FLJ22009|MGC26900|PAL protein-coding 1345976 SHCL1 SHC (Src homology 2 domain containing) transforming protein-like 1 7635484 6466 NG_004765,AC003102,U31058 GDB:385140 pseudo 1601984 SHD Src homology 2 domain containing transforming protein D 15489334,14702039,12477932,9315092 56961 NM_020209,AC008616,CH471139,AK055673,AK056268,AL390078,BC007206,CR592131,CR612209,CR613343,CR624687,CR625321 NP_064594,EAW69241,BAB70981,CAB98202,AAH07206,Q96IW2 Hs.7423 protein-coding 1605584 SHE Src homology 2 domain containing E 16710414,15489334,12693554,12477932,9315092 126669 AK074067,AK126006,AK131004,BC117210,CR936667,CR936736,NM_001010846,AL162591,CH471121 EAW53198,BAB84893,AAI17211,Q5VZ18,NP_001010846,CAH72851,EAW53197 Hs.591481 DKFZp451D1511|DKFZp686E14106|RP11-350G8.8 protein-coding 1602197 SHF Src homology 2 domain containing F 15146197,14702039,12477932,11095946,8889548 90525 NM_138356,AC051619,CH471082,AK094391,AK096267,AK123658,BC007586,BC101601,BC101603,BM669861,BX416415,CN287519,CR597455,CR604168,CR607464,CR610652,CR613819,CR626127 NP_612365,EAW77298,EAW77299,EAW77300,EAW77301,BAC04345,BAC85670,AAH07586,AAI01602,AAI01604,Q6ZW37,Q7M4L6,Q8N9I8 Hs.310399 MGC126650|MGC126652 protein-coding 1349756 SHFM1 split hand/foot malformation (ectrodactyly) type 1 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. 10373512,16239144,15117943,18270339,17563742,17406092,17066443,16189514,15489334,12853948,12690205,12477932,12228710,9927667,9847074,8733122,1895319,1877619 7979 NM_006304,AC073230,CH236949,CH471091,AK291070,BC032782,CR456887,CR591835,U41515 NP_006295,AAQ93368,EAL24125,EAW76746,EAW76747,BAF83759,AAH32782,CAG33168,AAA91179,P60896,Q6IBB7 Hs.489201 GDB:128195 DSS1|ECD|SEM1|SHFD1|SHSF1|Shfdg1 protein-coding 1626597 SHFM1P split hand/foot malformation (ectrodactyly) type 1 pseudogene 9060422 153842 NG_001311,AC026726,U61847 DSS1P1 pseudo 1346269 SHFM2 split hand/foot malformation (ectrodactyly) type 2 8454282 6463 GDB:226635 1345122 SHFM3P1 split hand/foot malformation (ectrodactyly) type 3 pseudogene 1 14702039,10531037,10531035,10405324,9635407,7665185,6319012,15070733 26226 NG_005085,AP000343,U07000,AF174606,AK024483 AAB60391,AAF04527,BAB15773,Q12845,Q9H7J7 Hs.517461 FBW3|FBXW3 pseudo 736829 SHH sonic hedgehog homolog (Drosophila) This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. The protein is made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. HPE is manifested by facial deformities. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. 1580354,1580863,628387 15128061,14733907,14727139,14691301,14520413,14520411,12926841,12917489,12853948,12837695,12783258,12773389,12709790,12690205,12632368,12629553,12547712,12533514,12514186,12503095,12495844,12477932,8896572,18174246,18063705,17914115,17895245,17761145,17628016,17611415,17461467,17414057,17409199,17392427,17390043,17378681,17353904,17152067,17102592,17050669,17035233,17007023,16945339,16786128,16778137,16701100,16571640,16540513,16528374,16448649,16335952,16323008,16322088,16300466,16282375,16244652,16159933,16003737,15998911,15939571,15905200,15790807,15675968,15592520,15521068,15502857,15470048,15314219,15292211,15249678,15249145,15238528,15221788,15170664,12421920,12417650,12394760,12032320,11983699,11857543,11576188,11572986,11471164,11395778,11359461,11175816,11076863,10556296,10441331,10050855,9811851,9593755,9302262,9115210,8896571,8269518,8012392,8012391,7720571,7590746,2309771,2241084,1897576 1580354,628387 6469 NM_000193,NG_007504,AB020410,AC002484,AC078834,AY422195,CH236954,CH471149,AY927450,L38518 NP_000184,BAA34689,AAB67604,AAS01990,AAQ87879,EAL23913,EAX04543,AAA62179,Q15465,AAI11926 Hs.164537 GDB:456309 HHG1|HLP3|HPE3|MCOPCB5|SMMCI|TPT|TPTPS protein-coding 1353356 SHISA2 shisa homolog 2 (Xenopus laevis) 15340161,12975309,12477932 387914 NM_001007538,AL139004,CH471075,AY358775,BC132898 NP_001007539,CAH73406,EAX08378,AAQ89135,AAI32899,Q6UWI4 Hs.433791 C13orf13|PRO28631|TMEM46|WGAR9166|bA398O19.2|hShisa chromosome 13 open reading frame 13 protein-coding 2292184 SHISA3 shisa homolog 3 (Xenopus laevis) 12477932 152573 NM_001080505,AC024022,AC084010,CH471069,BC012029,BC127690,BC127691,CR624275 NP_001073974,EAW93002,AAH12029,AAI27691,AAI27692,A0PJX4 Hs.370904 hShisa3 protein-coding 1323817 SHISA4 shisa homolog 4 (Xenopus laevis) 737633 16710414,15489334,12975309,12477932 737633 149345 NM_198149,AL513217,CH471067,AY358589,BC009558,BC061908,BC066977,BC104444,BC104445,BC111855,CR626801 NP_937792,CAH72277,EAW91378,EAW91379,AAQ88952,AAH09558,AAH61908,AAI04445,AAI04446,AAI11856,Q96DD7 Hs.632471 C1orf40|MGC102893|MGC129812|MGC129813|TMEM58|hShisa4 protein-coding 1602716 SHISA5 shisa homolog 5 (Xenopus laevis) 16189514,12761501,17889823,14702039,12477932,12135983,11042152 51246 CR604885,CR604935,CR605105,NM_016479,AC104448,AC134772,AF520702,AF520703,CH471055,CS051259,AB097007,AF151051,AF520698,AK056328,AK075441,AK124652,AL117413,AL832568,BC001463,BC020279,CR590175,CR590280,CR591364,CR591535,CR592063,CR592192,CR592234,CR592761,CR592862,CR593080,CR593445,CR593606,CR595213,CR595692,CR596221,CR596821,CR596912,CR596992,CR598876,CR599906,CR600306,CR601224,CR601420,CR603133,CR603751,CR603894,CR604587,CR605649,CR608469,CR608471,CR609022,CR609443,CR612305,CR612747,CR614701,CR615082,CR615519,CR615636,CR616699,CR617542,CR617624,CR617710,CR617987,CR619118,CR619291,CR619483,CR620085,CR620430,CR620899,CR622735,CR622754,CR622811,CR622812,CR623003,CR623228,CR623835,CR624287,CR626100 NP_057563,AAM74235,EAW64885,EAW64886,EAW64887,EAW64888,EAW64889,CAI72125,BAC77360,AAF36137,AAM74232,BAB71152,BAC11623,CAH10718,CAH10587,AAH01463,Q8N114,Q9P0Q9 Hs.414579 SCOTIN|hShisa5|scotin protein-coding 1352927 SHKBP1 SH3KBP1 binding protein 1 729812,1580863 16733801,15324660,12477932,11152963,9110174,8619474 729812 92799 NM_138392,AC010412,AC020929,CH471126,AF258553,AK075057,AK123695,AY007117,BC007653,BC022855,CR590661,CR598538,CR599049,CR618516 NP_612401,EAW56979,EAW56980,EAW56981,AAG23756,BAC11374,AAH07653,AAH22855,Q8TBC3 Hs.26506 PP203|Sb1 protein-coding 1323770 SHMT1 serine hydroxymethyltransferase 1 (soluble) This gene encodes the cellular form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in 2 transcript variants encoding 2 different isoforms. Additional transcript variants have been described, but their biological validity has not been determined. 1359815,1580863 11386852,10995219,10549165,9573390,9373149,12161434,11997338,9056951,8533763,8527925,8125298,6794659,627563,9753690,8505317,17482557,11278996,11516159,18427977,18381459,18378616,17904392,17896178,17891500,17595805,17446168,17420066,17311260,17311259,17206530,17119116,17113224,17074544,17035141,16536979,16447238,16365025,16049973,16046727,16006999,15797993,15598699,15531579,15489334,15198953,15122597,15060097,15059614,14656021,12615003,12604405,12477932 1359815 6470 AC127537,AF017064,AL353997,CH471196,Y14489,Y14490,AF017065,AK223552,BC007979,BC022874,BC038598,CR592100,CR594273,CR599388,CR613144,L11931,L23928,Y14485,Y14486,Y14488,NM_148918,NM_004169 EAW55637,EAW55638,EAW55639,EAW55640,EAW55641,EAW55642,EAW55643,CAB54842,CAB54843,AAC39726,BAD97272,AAH07979,AAH22874,AAH38598,AAA63257,AAA36018,AAA36019,AAA36020,CAB54838,CAB54839,CAB54841,P34896,Q53ET7,Q96HY0,Q9UMC8,Q9UMC9,Q9UMD0,ABM84168,ABW03580,NP_683718,NP_004160 Hs.513987,Hs.636044 GDB:141855 CSHMT|MGC15229|MGC24556|SHMT protein-coding 1350866 SHMT1P serine hydroxymethyltransferase 1 (soluble) pseudogene 9156323,8786078 6471 NG_002289,X85980 GDB:1316849 pseudo 1318437 SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) 1359815,1580863 8505317,17482557,17220478,17353931,11516159,15635413,15489334,14702039,12477932,11386852,11063567,10828359,10549165,9639330,9573390,9497969,9373149,8999870,8435385,8125298 1359815 6472 U23143,Y12331,AK055053,AK223555,BC008066,BC008711,BC011911,BC013677,BC025355,BC032584,BC044211,BC091501,BT006866,BX647711,BX648847,CR613033,L11932,NM_005412,AC137834,CH471054 P34897,Q53ET4,Q5BJF5,Q5HYG8,Q8N1A5,Q96DR1,ABM82235,ABM85356,CAA72999,AAA64572,BAB70847,BAD97275,AAH11911,AAH13677,AAH32584,AAH44211,AAH91501,AAP35512,CAI46021,AAA63258,EAW97001,NP_005403,EAW96993,EAW96994,EAW96995,EAW96996,EAW96997,EAW96998,EAW96999,EAW97000 Hs.75069 GDB:119594 GLYA|SHMT protein-coding 1317750 SHOC2 soc-2 suppressor of clear homolog (C. elegans) 1580863 9674433,9618511,16301319,15489334,14702039,12477932,10783161,10048485 8036 NM_007373,AL158163,CH471066,AB020669,AF054828,AF068920,AK090820,AK292833,BC044752,BC050445,BX649055,CR592821 NP_031399,CAH72812,CAH72813,EAW49548,EAW49549,EAW49550,BAA74885,AAC25698,AAC39856,BAF85522,AAH50445,Q5VZS9,Q9UQ13 Hs.104315 GDB:9954459 KIAA0862|SIAA0862|SOC-2|SOC2|SUR-8|SUR8 protein-coding 1349053 SHOX short stature homeobox The pseudoautosomal region (PAR1) contains an interval of 170 kb that tends to be deleted in individuals with short stature and different rearrangements on Xp22 or Yp11.3. SHOX (Short stature HOmeoboX-containing gene) a homeo box-containing gene located in the PAR1, has at least 2 alternatively spliced forms encoding proteins with different patterns of expression. SHOX is involved in idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. The 2 mRNAs, SHOXa and SHOXb, code for proteins of 292 and 225 amino acids, respectively. Both transcripts have a common 5' end, diverging after exon IV. The SHOX gene is composed of 6 exons ranging in size from 58 bp to 1,146 bp. SHOX is highly conserved across species. The absence of the SHOX gene may be responsible for the growth failure in Turner syndrome females. 1580863 9259282,9590292,18059093,17994562,17935511,17911654,17881654,17201812,17200153,17182655,16941489,16826534,16807223,16597678,16175500,15931687,15931595,15529627,15292358,15214013,15173321,15145945,15118270,14981722,14513875,12960152,12784295,12116254,12089524,11891678,11889216,11889214,11874178,11751690,11716161,11403039,11030412,9590293,9254856,9140395,8558568,7815426,6954848,2602357 6473 U82668,U89331,Y11535,Y11536,NM_006883,NM_000451,AY628411,BX004827,CH471225 AAC18820,CAA72298,CAA72299,O15266,Q5HYX6,Q5HYX7,Q6IT45,AAI41504,AAI48784,EAW66817,NP_006874,NP_000442,AAT46026,EAW66815,EAW66816 Hs.105932 GDB:6118451 GCFX|PHOG|SHOXY|SS protein-coding 736918 SHOX2 short stature homeobox 2 This gene is a member of the homeo box family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeo box genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeo box genes. SHOX is a pseudoautosomal homeo box gene that is thought to be responsible for idiopathic short stature and implicated to play a role in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing has been observed at this locus and two variants, each encoding a distinct isoform, have been identified. 1580863 9482898,15489334,14759258,14702039,12477932,9858825,9466998 6474 NM_006884,NM_003030,AC112502,CH471052,AF022654,AJ002367,AJ002368,AK095338,BC008829,BX331739 NP_006875,NP_003021,EAW78695,EAW78696,EAW78698,AAC39662,CAA05341,CAA05342,AAH08829,O60902 Hs.55967 GDB:9836617 OG12|OG12X|OGI2X|SHOT protein-coding 1317524 SHPK sedoheptulokinase The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. 1580863 10673275,18186520,14702039,12477932 23729 NM_013276,AC027796,AF168787,CH471108,AF163573,AK055609,AK057020,AK057040,AL832420,BC020543,BC111366 NP_037408,AAF43103,EAW90501,AAF24936,BAB71346,CAH10646,AAH20543,Q96ME9,Q9UHJ6,ABM82572,ABM85761 Hs.579217 GDB:10013943 CARKL|FLJ32478|SHK protein-coding 1321190 SHPRH SNF2 histone linker PHD RING helicase SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM] 17130289,17108083,16169070,15324660,14702039,12837266,12477932,7566098 257218 NM_173082,AL356599,AL451145,CH471051,AA315737,AB095943,AK075318,AK094944,AK126959,AK130768,AL833521,NM_001042683,AY161136,AY163808,BC113089,BC117685,BC117686,BX648322,CR615021,CR749290 NP_001036148,NP_775105,CAI41120,CAH70765,EAW47836,EAW47837,EAW47838,EAW47839,BAC23119,BAC11544,BAC04459,AAO26201,AAO06907,AAI13090,AAI17686,AAI17687,CAH18145,Q149N8 Hs.124537 FLJ27258|FLJ37625|FLJ45012|FLJ90837|KIAA2023|MGC134886|bA545I5.2 protein-coding 1345880 SHQ1 SHQ1 homolog (S. cerevisiae) 737633 14702039,12477932 737633 55164 NM_018130,AC114876,AC134050,CH471055,AK001401,AK024656,AK092962,BC017204,BC017274,BC025270,BC032671,BC039830,BC047879,BX641074,CR602146 NP_060600,EAW65521,EAW65522,EAW65523,BAA91669,BAB14947,AAH17204,AAH17274,AAH25270,AAH32671,AAH39830,AAH47879,CAE46037,Q6PI26 Hs.708238 DKFZp686H07226|FLJ10539 protein-coding 1605292 SHROOM1 shroom family member 1 SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM] 16684770,16615870,12477932,11853319 134549 NM_133456,AC004775,CH471062,AB075840,AF314142,BC104914,BC104916 NP_597713,EAW62310,EAW62311,EAW62312,BAB85546,AAM15526,AAI04915,AAI04917,Q2M3G4 Hs.519574 APXL2|KIAA1960 protein-coding 1343092 SHROOM2 shroom family member 2 The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. 1580863 16684770,7795590,16615870,15324660,14702039 357 Q13796,Q68DU3 NM_001649,AC002365,AC090481,AC135254,CH471074,AK096596,CR749271,X83543 NP_001640,AAC32592,EAW98774,CAH18127,CAA58534,Q13796,Q68DU3 Hs.567236 GDB:582527 APXL|DKFZp781J074|FLJ39277|HSAPXL|apxl apical protein-like (xenopus laevis) protein-coding 1602873 SHROOM3 shroom family member 3 16615870,14760703,14702039,12477932,10819331,10767323,10589677,9847074,15778465 57619 NM_020859,AC096743,AC107051,AC107072,AC112249,AC121158,CH471057,AB040914,AB055660,AF109367,AK027744,AK055294,AK124415,AK127929,AK128677,BC007291 NP_065910,EAX05794,EAX05795,BAA96005,BAB84689,AAQ13515,BAB55336,BAC85848,BAC87195,AAH07291,Q6ZVL3,Q8TF72,Q96K23,AAI56133 Hs.640107,Hs.702168 APXL3|KIAA1481|MSTP013|SHRM|ShrmL protein-coding 1606521 SHROOM4 shroom family member 4 16684770,16249884,16615870,14702039,10574462,2063914 57477 NM_020717,AL121865,AL359272,AL445491,CH471180,AB033028,AK092659,AK127486,AY044234,BC151240 NP_065768,EAW89917,EAW89918,BAA86516,BAC87001,AAK95579,AAI51241,Q6ZSF2,Q9H4G2,Q9H4T0,Q9ULL8 Hs.420541 KIAA1202 protein-coding 1346980 SHS Sutherland-Haan X-linked mental retardation syndrome 3177467,1605216 347679 GDB:128369 1352166 SI sucrase-isomaltase (alpha-glucosidase) 1625543,1625544,1625545,1625550,1625548,1580863 1717481,17194452,16802690,16543230,16329100,15944403,15522234,14724820,12477932,11340066,11003604,10903344,9092938,8609217,8521865,7566098,3925457,3896809,3178143,2962903,1677636,1560017,1353958 1625543,1625544,1625545,1625550,1625548 6476 NM_001041,AC092695,AC140119,AC144561,CH471052,M84646,AA376756,BC115033,BC115034,BC116452,BC116453,BC132834,BC132860,M22616,X63597 NP_001032,EAW78601,AAI15035,AAI16453,AAI32835,AAI32861,AAA60551,CAA45140,P14410,Q1JQ79,Q1JQ80,Q1RMC2 Hs.429596 GDB:120377 MGC131621|MGC131622 protein-coding 1604014 SIAE sialic acid acetylesterase Sialic acids are acidic 9-carbon sugars typically found at the nonreducing end of sugar chains. They are frequently modified by 9-O-acetylation, and this modification is removed by sialic acid acetylesterases. SIAE appears to encode both lysosomal and cytosolic sialic acid acetylesterase isoforms (LSE and CSE, respectively) (Takematsu et al., 1999 [PubMed 10464298]).[supplied by OMIM] 15489334,15292578,14702039,12477932,10464298 54414 NM_170601,AP001524,CH471065,AF300796,AF303378,AK056093,AK092224,AL137496,BC022456,BC040966,BC068450 NP_733746,EAW67591,AAG15386,AAG14897,CAB70771,AAH40966,AAH68450,Q9HAT2 Hs.10056 CSE-C|LSE|MGC87009|YSG2 protein-coding 1351073 SIAH1 seven in absentia homolog 1 (Drosophila) This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinson's disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. 1580863 11389840,11863358,9403064,9334332,18314624,18276110,18089810,18070888,17420721,17188242,16899216,16752048,16713569,16615911,16230351,16189514,16174773,16085652,15951807,15492505,15489334,15467739,15326481,15284290,15231748,15221006,15163637,15146197,15064394,14985507,14702039,14654780,14645235,14506261,12810624,12646221,12557228,12477932,12421809,12399545,12072443,11884614,11852084,11786535,11752454,11483518,11483517,11389839,11146551,10956387,10747903,10681424,9858595,9822659,9582267,9373149,8799150,8125298 6477 NM_001006610,NM_003031,AC023818,AJ400626,CH471092,AK023458,AK094663,AK225895,BC018193,BC035562,BC042550,BC044920,BX357983,BX647064,CN360509,CR593197,CR598465,CR607323,CR614925,EF026094,U63295,U76247 NP_001006611,NP_003022,CAC35542,EAW82726,EAW82727,AAH35562,AAH42550,AAH44920,CAE46191,ABK15529,AAC12950,AAC51907,Q5XKI9,Q8IUQ4,ABM81916,ABM85093 Hs.295923 GDB:7016763 HUMSIAH|Siah-1|Siah-1a|hSIAH1 protein-coding 734303 SIAH2 seven in absentia homolog 2 (Drosophila) This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. 1580863 10207103,9334332,18070888,17716627,17533377,17003045,16958618,16899216,16141343,15489334,15466852,15221006,15210114,14702039,14645235,12810624,12477932,12411493,12136098,11786535,11483518,11389839,10704288,10681424,9858595,9403064,9373149,8889548,8125298,14654780 6478 NM_005067,AC011317,AJ323446,CH471052,AK055290,AK223565,BC013082,BF514387,BM970396,CR610024,CR611295,U76248,Y15268 NP_005058,EAW78821,BAD97285,AAH13082,AAC51908,CAA75557,O43255,Q53ES4 Hs.477959,Hs.692394 GDB:7016764 hSiah2 protein-coding 1351927 SIATL1 sialyltransferase-like 1 6486 GDB:4425791 1346888 SIDT1 SID1 transmembrane family, member 1 1580863 16344560,15850781,14702039,12477932,10737800 54847 NM_017699,AC055740,AC112128,CH471052,AI004220,BC117222,BE839090,BG484269,DA217300,DA337075,DB217586 NP_060169,EAW79633,AAI17223,Q17RR4,Q9NXL6 Hs.591291 B830021E24Rik|FLJ20174|SID-1|SID1 protein-coding 1351240 SIDT2 SID1 transmembrane family, member 2 14702039,17081983,16303743,15340161,12975309,12477932,10810093 51092 NM_001040455,AP005018,CH471065,AF151799,AK075137,AK075471,AK292501,AK292974,AY358442,BC114522,BC114959,BX648437,CR591296 NP_001035545,EAW67283,EAW67284,EAW67285,EAW67286,EAW67287,EAW67288,EAW67289,EAW67290,EAW67291,EAW67292,EAW67293,EAW67294,EAW67295,EAW67296,AAD34036,BAC11427,BAC11641,BAF85190,BAF85663,AAQ88807,AAI14523,AAI14960,Q1RMF0,Q24JR2,Q8NBJ9 Hs.410977 CGI-40|DKFZp686L17253|FLJ90656 protein-coding 1604804 SIGIRR single immunoglobulin and toll-interleukin 1 receptor (TIR) domain 12925853,15866876,10346978,16432636,15489334,14715412,14702039,12975309,12477932,11022119 59307 NM_021805,AC138230,CH471158,CQ893567,AK025099,AK093427,AK172830,AY358342,BC003591,BC025953,BC106007,CR457338 NP_068577,EAX02324,CAH68705,BAB15066,BAD18795,AAQ88708,AAH03591,AAH25953,AAI06008,CAG33619,Q6IA17,ABM84379,ABM87289 Hs.501624 MGC110992|TIR8 protein-coding 1323674 SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. 1580863 11133773,18383365,17328080,16002716,15790807,14702039,11780052,11238599,11214971,10610356,10406848,8530048 6614 AK024479,AK057560,AK122586,AL833688,AY927519,BC141884,CD365566,NM_023068,AL109804,CH471133,AF230073,AK024459,AK024462 BAB15769,BAB71527,BAC56927,AAI41885,Q86YV1,Q9BZZ2,NP_075556,CAC17542,CAC17543,EAX10517,EAX10518,AAK00757,BAB15749,BAB15752 Hs.31869 GDB:462431 CD169|DKFZp667F058|FLJ00051|FLJ00055|FLJ00073|FLJ00411|FLJ32150|SIGLEC-1|SN|dJ1009E24.1 protein-coding 1316634 SIGLEC10 sialic acid binding Ig-like lectin 10 SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM] 1580863 17672918,16344560,15489334,12975309,12477932,12163025,12055638,11409878,11358961,11284738 89790 NM_033130,AC008750,AY029277,CH471135,AF301007,AF310233,AF311905,AK122619,AK289900,AK290542,AK292025,AY032685,AY358337,BC009955,BC101725,DA387605 NP_149121,AAK40256,EAW72012,EAW72013,EAW72014,EAW72015,EAW72016,AAM83254,AAK55139,AAK92542,BAC85493,BAF82589,BAF83231,BAF84714,AAK51124,AAQ88703,AAH09955,AAI01726,Q96LC7,AAK40255 Hs.284813 GDB:11504561 MGC126774|PRO940|SIGLEC-10|SLG2 protein-coding 1354413 SIGLEC11 sialic acid binding Ig-like lectin 11 SIGLECs are a family of cell surface lectins defined by shared structural motifs in the first 2 immunoglobulin (Ig)-like domains and by their ability to recognize sialic acids via the first Ig V set domain.[supplied by OMIM] 1580863 16151003,12975309,11986327 114132 NM_052884,AC011452,CH471177,AB072038,AF337818,AY358135 NP_443116,EAW52584,EAW52585,EAW52586,EAW52587,BAB86816,AAK72907,AAQ88502,Q96RL6,AAI56823 Hs.661852 GDB:11508471 protein-coding 1350480 SIGLEC12 sialic acid binding Ig-like lectin 12 Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. 15489334,14702039,12975309,12477932,11546777,11409877,11328818,9373149,8125298 89858 NM_053003,NM_033329,AC020914,AF277806,CH471135,AF282256,AI132995,AK095919,AK225931,AY358140,BC035809 NP_443729,NP_201586,AAK51233,AAK51234,EAW72022,EAW72023,AAK71521,AAQ88507,AAH35809,Q96PQ1 Hs.249741 FLJ38600|S2V|SIGLECL1|SLG|Siglec-12|Siglec-L1|Siglec-XII protein-coding 1346882 SIGLEC13 sialic acid binding Ig-like lectin 13 474172 1625453 SIGLEC14 sialic acid binding Ig-like lectin 14 17012248,12975309 100049587 NM_001098612,AC018755,AY854038,CA439587,DC428881 NP_001092082,AAX47338,Q08ET2 Hs.707374,Hs.711362 protein-coding 1604713 SIGLEC15 sialic acid binding Ig-like lectin 15 17483134,14702039 284266 AK025833,AK092746,AK095432,AK172835,AK290400,AK290402,AY971516,NM_213602,AC087685,CH471088 BAD18800,BAF83089,BAF83091,AAY40743,Q6ZMC9,NP_998767,EAX01462,EAX01463 Hs.287692 CD33L3|HsT1361|SIGLEC-15 protein-coding 1313458 SIGLEC5 sialic acid binding Ig-like lectin 5 The sialic acid-binding immunoglobulin-like lectins (SIGLECs), such as SIGLEC5, are a subgroup of the immunoglobulin (Ig) superfamily that mediate protein-carbohydrate interactions. They specifically interact with sialic acids in glycoproteins and glycolipids, with each SIGLEC having a particular preference for both the nature of the sialic acid and its glycosidic linkage to adjacent sugars. SIGLECs have similar structures, including extracellular Ig-like domains composed of an N-terminal V-set domain followed by varying numbers of C2-set domains. It appears that all SIGLECs have an unusual arrangement of conserved cysteine residues in the V-set and adjacent C2-set domains. Most SIGLECs are expressed uniquely within the hematopoietic system (Cornish et al., 1998 [PubMed 9731071]).[supplied by OMIM] 1580863 18022638,17675532,17012248,16828866,16732727,16189514,15769739,15489334,15057824,12763136,12477932,11943481,10428856,10343116,9731071,9373149,8125298 8778 NM_003830,AC018755,AY040820,CH471135,AF170484,AK225753,BC029896,U71383 NP_003821,AAF87846,AAK77223,EAW72033,AAD50978,AAH29896,AAB70703,O15389,ABM83359 Hs.310333 GDB:9956910 CD170|CD33L2|OB-BP2|OBBP2|SIGLEC-5 protein-coding 1348004 SIGLEC6 sialic acid binding Ig-like lectin 6 1580863 9465907,17580316,16344560,12477932,10428856 946 NM_198845,NM_198846,NM_001245,AC020914,AY040542,CH471135,AU138048,BC035359,CA495365,CR600025,CR614233,D86358,D86359,U71382 NP_942142,NP_942143,NP_001236,AAK83655,EAW72024,EAW72025,EAW72026,EAW72027,AAH35359,BAA24983,BAA24984,AAB70702,O43699 Hs.397255 GDB:5218335 CD327|CD33L|CD33L1|CDw327|OBBP1|SIGLEC-6 protein-coding 1349915 SIGLEC7 sialic acid binding Ig-like lectin 7 1580863 10499918,10567377,18331725,16828866,16732727,16623661,15703304,15557178,15292262,14747738,12778482,12477932,12438315,11943481,11774609,11389909,10764831,10611343,10514511,8188688 27036 NM_014385,NM_016543,AC063977,AY040543,CH471135,AF170485,AF178981,AF193441,AJ007395,AJ130710,AJ130711,AJ130712,AJ130713,BC028150 NP_055200,NP_057627,AAK83656,EAW71986,EAW71987,AAF12759,AAF44346,AAF06790,CAB46011,CAB51126,CAB51127,CAB51128,CAB51129,AAH28150,Q9Y286 Hs.655393 GDB:10795934 AIRM1|CD328|CDw328|D-siglec|QA79|SIGLEC-7|p75|p75/AIRM1 protein-coding 1351533 SIGLEC8 sialic acid binding Ig-like lectin 8 1580863 10625619,18036650,17690326,16344560,16157303,15563466,15489334,12609831,12477932,11284738,11095983,10856141 27181 NM_014442,AC020914,AF287892,CH471135,AF195092,AF223403,AF310234,AK290149,AK290412,BC053319,DA388103 NP_055257,AAG00573,EAW72018,EAW72019,EAW72020,AAF27622,AAF34702,AAK55140,BAF82838,BAF83101,AAH53319,Q9NYZ4 Hs.447899 GDB:10795936 MGC59785|SAF2|SIGLEC-8|SIGLEC8L protein-coding 1353065 SIGLEC9 sialic acid binding Ig-like lectin 9 1580863 10801860,18325328,16828866,16732727,15827126,15557178,15292262,15057824,14693915,12975309,12477932,10903842,10801862,10652563 27180 NM_014441,AC011473,AF135027,CH471135,AB026265,AF227924,AF247180,AY358913,BC035365 NP_055256,AAG23261,AAD26428,EAW71985,BAB41100,AAF71455,AAF87223,AAQ89272,AAH35365,Q6GTU4,Q9Y336,ABM83402,ABM86614 Hs.245828 GDB:10796219 CD329|CDw329|OBBP-LIKE protein-coding 1344689 SIGLECP1 sialic acid binding Ig-like lectin, pseudogene 1 11546777 114184 NG_004728,AC011473 GDB:11508758 pseudo 1354111 SIGLECP10 sialic acid binding Ig-like lectin, pseudogene 10 11546777 114185 NG_004729,AC008750,AC020914 GDB:11508780 pseudo 1350861 SIGLECP11 sialic acid binding Ig-like lectin, pseudogene 11 11546777 114186 NG_004730,AC020914 GDB:11508781 pseudo 1347373 SIGLECP12 sialic acid binding Ig-like lectin, pseudogene 12 11546777 114187 NG_004731,AC020914 GDB:11508782 pseudo 1344594 SIGLECP13 sialic acid binding Ig-like lectin, pseudogene 13 11546777 114188 NG_004732,AC020914 GDB:11508783 pseudo 1352871 SIGLECP14 sialic acid binding Ig-like lectin, pseudogene 14 11546777 114190 NG_004734,AL162428,AL445203 GDB:11508784 pseudo 1349427 SIGLECP15 sialic acid binding Ig-like lectin, pseudogene 15 11546777 114189 NG_004733,AC007228 GDB:11508826 pseudo 1346125 SIGLECP16 sialic acid binding Ig-like lectin, pseudogene 16 15489334,15057824,12477932,11986327,11546777 400709 NR_002825,AC011452,BC030222,BC039008 AAH39008,A6NMB1 Hs.568076,Hs.686869 Siglec-P16 pseudo 1353284 SIGLECP2 sialic acid binding Ig-like lectin, pseudogene 2 11546777 114191 NG_004741,AC063977 GDB:11508772 pseudo 1354067 SIGLECP3 sialic acid binding Ig-like lectin, pseudogene 3 12477932,11943481,11546777 284367 NR_002804,AC063977,AY040545,AF161341,BC035688,BC041072,BC050999 AAF28901,AAH41072,AAH50999 Hs.132045 GDB:11508773 HSPC078|SIGLECP2 pseudo 1349069 SIGLECP4 sialic acid binding Ig-like lectin, pseudogene 4 11943481,11546777 114192 NG_004735,AC063977,AY040544 GDB:11508774 SIGLECP1 pseudo 1345640 SIGLECP5 sialic acid binding Ig-like lectin, pseudogene 5 11546777 114194 NG_004736,AC063977 GDB:11508775 pseudo 1342613 SIGLECP6 sialic acid binding Ig-like lectin, pseudogene 6 11546777 114195 NG_004737,AC063977 GDB:11508776 pseudo 1350448 SIGLECP7 sialic acid binding Ig-like lectin, pseudogene 7 11546777 114197 NG_004739,AC063977 GDB:11508777 pseudo 1353041 SIGLECP8 sialic acid binding Ig-like lectin, pseudogene 8 11546777 114196 NG_004738,AC063977 GDB:11508778 pseudo 1343547 SIGLECP9 sialic acid binding Ig-like lectin, pseudogene 9 11546777 114198 NG_004740,AC008750,AC020914 GDB:11508779 pseudo 1602207 SIKE suppressor of IKK epsilon SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM] 16344560,16281057,12477932,9373149,8125298 80143 NM_001102396,NM_025073,AL096773,CH471122,AI039175,AK024821,AK126316,AK225734,BC005934,CR749219,CR936771,DA950119 NP_001095866,NP_079349,CAI18822,CAI18823,CAI18824,EAW56620,BAB15020,AAH05934,CAH18076,Q9BRV8 Hs.709277 DKFZp686A0768|FLJ21168|RP5-1000E10.4 protein-coding 1605350 SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. 11101517,17026626,16303743,16282978,16282977,15489334,15231748,14512967,12975309,2791656,12477932,12356756,16189514 64374 NM_001037633,AC008614,AC011378,AC011405,CH471062,CQ783256,AF547994,AJ299442,AK074624,AK075177,AY358950,NM_022464,BC011568,BI561751,CA415266,CB125000,CD369479,CR592997,CR593084,CR595005,CR601222,CR603663,CR604859,CR605638,CR607641,CR611503,CR614372,CR615501,CR617127,CR617163,CR617944,CR618119,CR621434,DQ059315,DQ173771,DQ173772 NP_071909,NP_001032722,EAW62120,EAW62121,CAF86460,AAN84477,CAC17773,BAC11096,BAC11452,AAQ89309,AAH11568,AAY89591,ABA60425,ABA60426,Q9H173,ABW03779,ABW03472 Hs.483521 BAP|MSS|ULG5 protein-coding 1316751 SILV silver homolog (mouse) 1580863 8179825,18463683,18181974,17991747,17625594,17303571,17081065,16760433,16704461,16682408,16516837,15695812,15489334,15096515,15001714,14702039,14632201,12925214,12819038,12732614,12643545,12477932,12135425,11694580,11549113,11266471,10504440,9743519,9586889,9222283,9176405,8739560,8617263,8592076,8022805,7519602,2255914,2209547,1924386,1922059 6490 NM_006928,AC025162,CH471054,U20093,U31799,U31807,AK092881,AK130180,BC001414,BT007202,CA432578,M32295,M77348,S73003,U01874 NP_008859,EAW96852,EAW96853,EAW96854,EAW96855,AAB19181,AAB00386,AAH01414,AAP35866,AAA35930,AAA60121,AAC60634,AAA18479,P40967,ABW03637 Hs.95972 GDB:6277709 D12S53E|ME20|PMEL|PMEL17|SI|SIL|gp100 protein-coding 1320567 SIM1 single-minded homolog 1 (Drosophila) SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome. 1624165,1580863 8812055,9199934,16924270,16709610,14988267,14697214,14574404,12477932,12161602,11782478,11448938,11076863,10587584,9020169 1624165 6492 NM_005068,AL121948,CH471051,Z86062,U70212 NP_005059,CAI20423,EAW48451,CAI19455,AAB62395,P81133,AAI11932,AAI18501 Hs.520293 GDB:6380443 2289234,2289252 BW142_H,BW141_H protein-coding 1317540 SIM2 single-minded homolog 2 (Drosophila) SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim gene encodes a transcription factor that is a master regulator of fruit fly neurogenesis. SIM2 maps within the so-called Down syndrome chromosomal region. Based on the mapping position, its potential function as transcriptional repressor and similarity to Drosophila sim, it is proposed that SIM2 may contribute to some specific Down syndrome phenotypes 1580863 10830953,10400987,9503011,9271372,9020169,8905236,8812055,7647800,7568099,7485157,11404025,8661114,9199934,18160708,16840439,16129820,15963499,15946822,14701734,14697214,14550949,12676991,12530058,12477932,11782478 6493 NM_005069,NM_009586,AB003185,AP000697,CH471079,D44444,D44445,D44446,D44447,D44448,D70838,D85922,AJ001858,AJ001859,BC110444,U80456,U80457,X84790 NP_005060,NP_033664,BAA21489,BAA21490,BAA89433,EAX09737,EAX09738,BAA07906,BAA07907,BAA07908,BAA07909,BAA07910,BAA11108,BAA12919,CAA05055,AAI10445,AAB62396,AAB62397,CAA59261,Q14190,Q2TBD8 Hs.146186 GDB:642106 MGC119447|SIM protein-coding 1323140 SIN3A SIN3 homolog A, transcription regulator (yeast) The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. 1580863 15489334,15467743,15451426,15345747,15314177,15302935,15235594,14749338,14702039,14647463,14559791,14525983,12943729,12724404,12634383,12612053,12590135,12527908,12493763,12477932,12466959,12398767,12391155,12242670,12150998,12124384,12091390,12036432,12015313,12007404,12006497,11909966,11897684,11882901,11719366,11486045,11441023,11438660,11430826,11416139,11390640,11359905,11283269,11259580,11150306,11118440,11106735,11102443,11013263,10950960,10944117,10933397,10823891,10773092,10766745,10688671,10640276,10444591,10441327,10357820,9804427,9790534,9765306,9627120,9184233,9150135,9150134,9150133,8521822,7889570,7601471,9651585,12920132,12374985,11931768,11238380,12670868,18316480,17854949,17209038,17081983,16805913,16166625,15684083,15509555,11171972,10640275,10220385,9520398,10644367,11959865,15199122,15148359,15456747,12149646,15333839,15729358,11000236,9486654 25942 BX649162,CR602001,NM_015477,AC068338,AC105137,CH471136,AF418569,AK027559,AK074800,AK074903,AK096477,AL117513,AL832463,AY044430,BC018973,BC030563,BC041047,BC052275,BC066364,BC137098,BC137099 AAI37100,Q6NZ34,Q96ST3,NP_056292,EAW99249,EAW99250,EAW99251,AAP97288,BAB55197,BAC11280,BAC04801,CAB55972,AAK95854,AAH18973,AAH66364,AAI37099 Hs.706873 GDB:11510792 DKFZP434K2235|FLJ90319|KIAA0700 protein-coding 1348412 SIN3B SIN3 homolog B, transcription regulator (yeast) 1580863 12670868,18205948,16464847,16166625,15489334,15467743,14702039,12590135,12477932,12398767,12015313,11959842,11909966,11370785,11101889,10570134,10357820,9734811,9627120,7889570,10444591 23309 NM_015260,AC008737,CH471106,AB014600,AK001633,AY706204,BC005113,BC025026,BC063531,BC110821,CR597022,CR619281 NP_056075,EAW84564,EAW84565,BAA31675,AAU01916,AAH05113,AAH25026,AAH63531,AAI10822,O75182,Q2NL91 Hs.13999 GDB:9955895 KIAA0700 protein-coding 1351557 SIP1 survival of motor neuron protein interacting protein 1 1580863 9323129,11714716,15130578,9323130,10531003,18247312,17855508,17308308,17060462,16731905,16611372,15964810,15489334,14697339,12477932,12065586,11943600,11748230,11713266,11522829,11389857,11181573,11149922,11135666,11092763,10942426,10909848,10725331,10601333,9447963,9295360,12668731,17353931,12714599 8487 NM_003616,NM_001009183,NM_001009182,AJ250932,AJ250939,AL109628,CH471078,AB037701,AB037702,AB037703,AF027150,BC028095,BC104968,CN484054 NP_003607,NP_001009183,NP_001009182,CAC16117,CAC16171,EAW65825,EAW65826,EAW65827,EAW65828,EAW65829,EAW65830,BAB03508,BAB03509,BAB03510,AAB82297,AAI04969,O14893,Q9H4F4 Hs.708127 GDB:9955262 GEMIN2|SIP1-delta protein-coding 1346963 SIPA1 signal-induced proliferation-associated gene 1 The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. 1580863 9346962,12059963,10373454,7799964,9183624,18033671,17081983,16563182,15489334,15456879,12477932,11461903,9651531,9027487,8889548 6494 NM_006747,NM_153253,AF052232,AF052233,AF052237,AF052238,AP001362,CH471076,AB005666,AF029789,BC010492,BC110353,BM677738 NP_006738,NP_694985,AAC32559,EAW74421,EAW74422,EAW74423,BAA22197,AAC32547,AAH10492,AAI10354,Q96FS4 Hs.530477 GDB:9786296 MGC102688|MGC17037|SPA1 protein-coding 733053 SIPA1L1 signal-induced proliferation-associated 1 like 1 1580863 17081983,16999984,15588942,15302935,14702039,12508121,12477932,12421765,12168954,11502259,9858596,9455477,15778465 26037 NM_015556,AC004900,AC004968,AC004974,CH471061,AB007900,AF090989,AF090990,AK122930,BC146777,CR612092,CR936651 NP_056371,AAC83179,EAW81058,EAW81059,EAW81060,BAA23712,AAD12543,AAD12544,AAI46778,CAI56789,O43166,Q5CZ77 Hs.654657 DKFZp686G1344|E6TP1|KIAA0440 spa-1 like protein p1294 protein-coding 1314792 SIPA1L2 signal-induced proliferation-associated 1 like 2 1580863 16710414,15570572,15489334,15146197,14702039,12477932,10718198,8889548 57568 NM_020808,AL157409,AL356965,CH471098,AB037810,AK022852,AK026779,AK074212,AK093191,AY168879,BC006013,BC013119,BC082251,BC150334,CB242802,CN425351 NP_065859,EAW69971,EAW69972,BAA92627,BAB14273,BAC04090,AAO12530,AAH13119,AAH82251,AAI50335,Q2TV88,Q9P2F8 Hs.268774 FLJ23126|FLJ23632|KIAA1389|SPAL2 protein-coding 1322892 SIPA1L3 signal-induced proliferation-associated 1 like 3 1580863 15592455,12477932,12168954,9628581,15778465 23094 NM_015073,AC008395,AC011465,AC011479,AC016582,AC098790,CH471126,AB011117,AY168880,BC036863,BC150620,BM193478 NP_055888,EAW56758,BAA25471,AAO12531,AAH36863,AAI50621,O60292,Q8IUV1 Hs.655502 SPAL3 protein-coding 736759 SIRPA signal-regulatory protein alpha The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. 1580863 9070220,16691243,18051954,17954568,17632076,17360380,17178844,17142753,17098740,17070842,16825188,16697668,16344560,16339511,16335952,16291597,16189514,15888547,15842360,15489334,15374953,15359629,14729615,14662855,12805067,12483539,12477932,11907074,11792697,11780052,11509594,10962556,10842184,10660565,10585853,10572074,10469599,10098842,9872987,9712903,9632768,9485180,9271230,9062191,8943344,8810330,8525433 140885 NM_001040022,NM_080792,NM_001040023,AL034562,AL117335,CH471133,AB023430,AK290776,BC026692,BC033092,BC038510,BC075849,CR602336,D86043,DA471662,DN989886,U06681,U06701,Y10375,Y11047 NP_001035111,NP_542970,NP_001035112,CAB38874,EAX10606,EAX10607,EAX10608,EAX10609,EAX10610,EAX10611,BAA87929,BAF83465,AAH26692,AAH33092,AAH38510,AAH75849,BAA12974,CAA71403,CAA71944,P78324,ABM82577 Hs.581021,Hs.679042 GDB:9954601 BIT|CD172A|MFR|MYD-1|P84|PTPNS1|SHPS-1|SHPS1|SIRP|SIRP-ALPHA-1|SIRPalpha|SIRPalpha2 protein tyrosine phosphatase, non-receptor type substrate 1 protein-coding 1347883 SIRPB1 signal-regulatory protein beta 1 The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Alternatively spliced transcript variants have been found for this gene. 1580863 9062191,16339511,16335952,16081415,15489334,15342556,12477932,12415263,11780052,10940905,10604985 10326 NM_001083910,NM_006065,AL049634,AL138804,AL592544,CH471133,AK130124,AK289866,BC025286,BC075835,BC131747,BP295274,BX537992,Y10376 NP_001077379,NP_006056,CAI21864,CAI21865,CAI21866,CAI16687,CAI16688,CAI16689,CAI16690,CAI21700,EAX10620,EAX10621,EAX10622,BAF82555,AAH25286,AAH75835,AAI31748,CAD97951,CAA71404,O00241,Q5SXI1,Q5TFQ9,Q7Z3B9,AAI56610 Hs.709487,Hs.710882 GDB:9956341 CD172b|DKFZp686A05192|FLJ26614|SIRP-BETA-1 protein-coding 1320248 SIRPB2 signal-regulatory protein beta 2 17178844,16339511,14702039,12213963 284759 XM_209363,XM_939897,XM_001724775,NM_001122962,NR_021484,AL109658,CH471133,AK095499,AY424277,BG539998,BM285394,BQ635335,DC313096,DC358609,DN998473 XP_209363,XP_944990,XP_001724827,NP_001116434,CAI22734,CAI22735,EAX10626,AAR04783,Q5JXA8,Q5JXA9,Q5JXB0,Q6TCH9 Hs.12865,Hs.405994 PTPN1L|PTPNS1L3|dJ776F14.2 protein tyrosine phosphatase, non-receptor type substrate 1-like 3 protein-coding 1353362 SIRPD signal-regulatory protein delta 16339511,15489334,14702039,12477932,11780052 128646 NM_178460,AL049634,CH471133,AK093083,BC033502 NP_848555,CAI21867,CAI21868,CAI21869,EAX10623,EAX10624,AAH33502,Q5TFQ5,Q9H106,ABM82223,ABW03378 Hs.664861 GDB:11507557 PTPNS1L2|dJ576H24.4 protein-coding 1604807 SIRPG signal-regulatory protein gamma The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. 15383453,9062191,16691243,16344560,16339511,15489334,15294972,12477932,11780052,11185750 55423 NM_080816,NM_001039508,NM_018556,AL109809,AL138804,CH471133,AA446468,AB042624,AK292745,AY748247,AY748248,BC020629,BC064532,DA008008,DB046293 NP_543006,NP_001034597,NP_061026,CAM28283,CAM28284,CAM28285,CAC00474,CAI16691,CAI16692,EAX10615,EAX10616,EAX10617,EAX10618,BAA95692,BAF85434,AAV88530,AAV88531,AAH20629,AAH64532,Q5JV26,Q9P1W8 Hs.590883 GDB:11504563 CD172g|SIRP-B2|SIRPB2|SIRPgamma|bA77C3.1 protein-coding 1318374 SIRT1 sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. 1580423 17895433,17806102,17785417,17680780,17638871,17624472,17612497,17581637,17516504,17505061,17373700,17334224,17317627,17283066,17213307,17180656,17112576,17099246,17081983,17041012,16998810,16964243,16923962,16892051,16751189,16628003,16354677,16328012,16288004,16257164,16207712,16183991,16166628,15749705,10381378,18438697,18329615,18296641,18235502,18235501,18230337,18203716,18174544,17996922,17964266,17937892,17934453,17916362,17901049,15719057,15692560,15640142,15639232,15632193,15489334,15469825,15302935,15205477,15164054,15152190,15126506,14980222,14976264,14702039,12939617,12930829,12535671,12477932,12413881,12297502,12006491,11672523,11672522,11230166,10873683,16189514,15780941,15175761 1580423 23411 NM_012238,AL133551,CH471083,CS330050,DQ278604,AF083106,AF235040,AK027686,AK074805,AK289743,AL136741,BC012499,BX648554 NP_036370,CAI16036,EAW54258,EAW54259,CAL00153,ABB72675,AAD40849,AAG38486,BAF82432,AAH12499,Q96EB6 Hs.369779 GDB:9956524 SIR2L1 protein-coding 733995 SIRT2 sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two transcript variants result from alternative splicing of this gene. 12697818,12887892,12620231,15126506,11427894,10381378,18332217,18249187,18249170,17708669,17516032,16909107,16648462,16565078,16247014,16211212,15489334,15328540,15274642,15213244,14702039,12963026,12477932,12065666,11812793,11483616,10931946,10873683,10393250,9373149,9110174,8619474,8125298,16189514,17353931 22933 NM_030593,NM_012237,AC011455,CH471126,CS072425,CS330052,CS330054,AB009274,AF083107,AF095714,AF131800,AF160214,AJ505014,AK025876,AK054642,AK131390,AK225824,AK290716,AY030277,BC003012,BC003547,CR591051,CR593149,CR598693,CR600814,CR613201,CR617711,CR623364,CR624230 NP_085096,NP_036369,EAW56833,EAW56834,EAW56835,EAW56836,EAW56837,EAW56838,CAI93563,CAL00154,CAL00155,BAF76655,AAD40850,AAD45971,AAD20046,AAF67015,CAD43717,BAD18541,AAK51133,AAH03012,AAH03547,Q6ZN34,Q8IXJ6,ABZ92537,BAF83405 Hs.466693 GDB:9957743 SIR2|SIR2L|SIR2L2 sirtuin 2 (silent mating type information regulation 2, homolog) 2 (s. cerevisiae) protein-coding 1318106 SIRT3 sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. 10381378,18215119,17957139,17437997,17059877,16189514,15676284,15489334,12477932,12374852,12186850,11056054,10873683,8889548 23410 NM_012239,NM_001017524,AC069287,AC136475,AF015416,CH471278,CS330056,CS330058,U73637,AA279020,AF083108,AI091200,AK074992,AL137276,AL535769,BC001042,BI755839,BM709066,BM973763,CR592147,CR598105,CR618015,CR624703,DR762907 NP_036371,NP_001017524,EAW61239,EAW61240,EAW61241,EAW61242,EAW61243,CAL00157,AAD40851,BAC11340,CAB70674,AAH01042,Q8NC36,Q9NTG7,CAL00156 Hs.592292 GDB:9956523 SIR2L3 protein-coding 1321303 SIRT4 sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. 10381378,17715127,16541075,15489334,15122253,12477932,10873683,9847074 23409 NM_012240,AC003982,CH471054,CS330060,AF083109,BC034736,BC109319,BC109320 NP_036372,AAB95634,EAW98182,EAW98183,CAL00158,AAD40852,AAI09320,AAI09321,Q9Y6E7 Hs.50861 GDB:9956522 MGC130046|MGC130047|MGC57437|SIR2L4 protein-coding 1351920 SIRT5 sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in two transcript variants. 10381378,16827919,16484774,16381901,15489336,15489334,14702039,14574404,12477932,11076863,10873683 23408 NM_031244,NM_012241,AL441883,CH471087,CS330062,CS330064,AF083110,AJ420496,AK000355,BC000126,BC035122,BC035196,BX538030,CR595911,CR600455,CR606976,CR617335,CR619396,CR623350 NP_112534,NP_036373,CAI19837,CAI19838,EAW55332,EAW55333,EAW55334,EAW55335,EAW55336,EAW55337,EAW55338,CAL00159,CAL00160,AAD40853,BAA91107,AAH00126,CAD97975,Q5T295,Q7Z3A0,Q9NXA8,CAL38292 Hs.567431 GDB:9956521 SIR2L5 protein-coding 1313110 SIRT6 sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. 18388907,18337721,18242175,16189514,16169070,15489334,15057824,14702039,12477932,10873683,9373149,8125298 51548 NM_016539,AC005620,AC006930,AC016586,CH471139,CS330066,AF233396,AK074810,AK225567,BC004218,BC005026,BC028220,CR457200,CR590451,CR593044,CR596220,CR600586,CR601886,CR611152,CR615004,CR618222,CR619282 NP_057623,AAC34468,AAD15478,EAW69251,EAW69252,EAW69253,EAW69254,EAW69255,EAW69256,EAW69257,EAW69258,EAW69259,CAL00161,AAF43432,BAC11222,AAH04218,AAH05026,AAH28220,CAG33481,Q8N6T7,ABM87357,ABW03864 Hs.423756 GDB:11502924 SIR2L6 protein-coding 1314170 SIRT7 sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. 1580863 17003781,16618798,16525639,15489334,14702039,12477932,12454780,11953824,10873683 51547 NM_016538,AC137723,CH471099,CS330068,AF233395,AK002027,AK094326,AK131437,AK131484,AK290265,AL137626,BC017305,BC101791,BC101793,CR600432,CR600645,CR617660 NP_057622,EAW89713,CAL00162,AAF43431,BAA92044,BAD18583,BAD18629,BAF82954,CAB70848,AAH17305,AAI01792,AAI01794,Q6ZMU6,Q6ZMZ2,Q9HBQ4,Q9NRC8,ABM83280,ABM86487 Hs.514636,Hs.528641 GDB:11503237 MGC126840|MGC126842|SIR2L7 protein-coding 1601761 SIT1 signaling threshold regulating transmembrane adaptor 1 11433379,10209036,16160011,16094384,15592455,15570572,15489334,15164053,15144186,12477932,11491537,7566098 27240 NM_014450,AJ271888,AL357874,CH471071,AA310964,AA746595,AJ010059,BC102029,BC104491,BC107484,BM919490,CR617531,CR624155 NP_055265,CAC81313,CAI13446,EAW58370,CAB41504,AAI02030,AAI04492,AAI07485,Q9Y3P8 Hs.88012 MGC125908|MGC125909|MGC125910|RP11-331F9.5|SIT protein-coding 1603317 SIVA1 SIVA1, apoptosis-inducing factor This gene encodes a protein with an important role in the apoptotic (programmed cell death) pathway induced by the CD27 antigen, a member of the tumor necrosis factor receptor (TFNR) superfamily. The CD27 antigen cytoplasmic tail binds to the N-terminus of this protein. Two alternatively spliced transcript variants encoding distinct proteins have been described. 9177220,12011449,14739602,16683188,17965021,17653867,17348035,16491128,15958577,15489334,15105421,15034012,12478477,12477932,11920585,11601913,11278261,10756043,9373149,8125298 10572 NM_006427,NM_021709,AL583722,BK000018,CH471061,AF033111,AF401214,AK223332,BC034562,BU195069,CK001877,CR593834 NP_006418,NP_068355,DAA01049,EAW81877,EAW81878,EAW81879,EAW81880,AAD50057,AAL02171,BAD97052,AAH34562,O15304,Q53FF7 Hs.112058 CD27BP|SIVA|Siva-1|Siva-2 protein-coding 731648 SIX1 SIX homeobox 1 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). 1580863 16189514,8617500,18381426,18330911,17637804,17519359,17130831,17008870,16670092,16652090,15489334,15226428,15141091,15123840,14628042,12874121,12843324,12477932,12441302,12215533,12057921,11734542,10906137,10801845,10777717,9770533,7720577 6495 NM_005982,AF323497,AL049874,CH471061,CS025630,BC008874,BT007083,X91868 NP_005973,AAK06772,EAW80784,EAW80785,CAI61692,AAH08874,AAP35746,CAA62974,Q15475,Q53Y16 Hs.633506 GDB:642091,GDB:10013859 BOS3|DFNA23|TIP39 protein-coding 1321897 SIX2 SIX homeobox 2 1580863 10773454,18305125,12477932,12441302,12215533,11734542,10677303,8814301 10736 NM_016932,AC012354,AF136939,AF323498,AF332198,CH471053,AF136940,AF332196,AF332197,BC024033,BT020100 NP_058628,AAF69031,AAK06773,AAK16583,EAX00265,AAF69032,AAK16581,AAK16582,AAH24033,AAV38903,Q8TBA2,Q9NPC8 Hs.101937 GDB:9958235 protein-coding 733474 SIX3 SIX homeobox 3 1599335,1599336,1580863 10369266,17666527,16323008,15635066,15523651,15221788,14973488,12543801,12477932,12441302,12050133,11554737,11173923,11069920,10490620,10415461,9889003,1887845 1599335,1599336 6496 NM_005413,AC012354,AF049339,AF083891,AF092047,CH471053,AJ012611,AL162671,BC030289,BF569811 NP_005404,AAX93283,AAD15753,AAD51091,AAD11939,EAX00267,EAX00268,CAB42539,CAB83141,AAH30289,O95343,Q53T42,Q9NSJ2,AAI53027 Hs.658847 GDB:9835940 HPE2 protein-coding 1315508 SIX4 SIX homeobox 4 1580863 15489334,12477932,10640827,10512683,8628654,12215533,10906137,12441302 51804 BC099722,BC101934,BC098282,NM_017420,AB024687,AL132777,CH471061,AA424469,AF032107,BC098135 AAH98282,AAH99722,AAI01935,Q4QQH5,Q9UIU6,Q9UL97,ABZ92148,ABZ92373,NP_059116,BAA86223,EAW80786,AAF04403,AAH98135 Hs.690393,Hs.708798 GDB:9993184 AREC3|MGC119450|MGC119452|MGC119453 protein-coding 1312832 SIX5 SIX homeobox 5 1580863 16713569,17357085,15489334,14702039,12500905,12477932,11978764,11748221,10823141,10756185,10490620,9949207,9817928,8595416 147912 NM_175875,AC074212,CH471126,X84813,AK074826,AL540911,BC033204,BC084563,BU859227,CR597997 NP_787071,EAW57379,AAH33204,Q8N196,AAI56209,AAI56984 Hs.43314 GDB:697132 BOR2|DMAHP protein-coding 1321431 SIX6 SIX homeobox 6 The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). 1580863 10512683,18293925,15505031,15266624,12477932,12441302,11493467,10381575 4990 NM_007374,AB041399,AF031648,AF141651,AL049874,CH471061,AJ011785,BC065831,BC069413,BC087852,CR593154,CR594317,CR598634,CR605575,CR609464 NP_031400,BAA94484,AAF04402,AAD49844,EAW80782,CAA09773,AAH65831,AAH69413,AAH87852,O95475,Q5M8S8,Q6P051,ABZ92173 Hs.194756 GDB:9835941 MCOPCT2|OPTX2|Six9 protein-coding 1346541 SJS1 Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia) 8541852,9279765 347680 GDB:1381631 1354438 SKAP1 src kinase associated phosphoprotein 1 This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. 1580863 9195899,17658605,16980616,16461356,15939789,15849195,15489334,12652296,12477932,12171928,11909961,10856234,10358754,9837776,9748251,9671755,9232446 8631 AK290818,BC039040,BC047870,DR007155,Y11215,NM_003726,NM_001075099,AC006468,AC027152,AC036222,AC090627,CH471109 EAW94748,EAW94749,EAW94750,EAW94751,BAF83507,AAH47870,CAA72101,Q86WV1,NP_003717,NP_001068567,EAW94747 Hs.316931 GDB:9956061 SCAP1|SKAP55 src family associated phosphoprotein 1 protein-coding 1345057 SKAP2 src kinase associated phosphoprotein 2 The protein encoded by this gene belongs to the src family kinases. This protein is similar to the src kinase associated phosphoprotein 1. It is an adaptor protein that is thought to play an essential role in the src signaling pathway in various cells. It inhibits PTK2B/RAFTK activity and regulates alpha-synuclein phosphorylation. 1580863 9671755,9837776,11390434,17952125,17081983,15761153,15489334,15166227,12893833,12853948,12690205,12477932,11301322,11063873,10942756,10527689,9755858,9373149,8125298,16189514 8935 NM_003930,AC003999,AC011299,CH236948,CH471073,AB014486,AF051323,AF072166,AF174049,AJ004886,AK222885,BC002893,BC036044,BI547092,BI826753 NP_003921,AAS02033,AAS07536,EAL24231,EAW93858,EAW93859,EAW93860,BAA36194,AAC99296,AAC39924,AAD53795,CAA06193,BAD96605,AAH02893,AAH36044,O75563,ABM83822,ABM87143 Hs.200770,Hs.644804 GDB:9957911 MGC10411|MGC33304|PRAP|RA70|SAPS|SCAP2|SKAP-HOM|SKAP55R protein-coding 1342955 SKI v-ski sarcoma viral oncogene homolog (avian) 1580863 14525983,15621726,10549282,11121043,18261624,17621263,17592292,17469184,17054724,16710414,16424870,16327884,16054854,15806149,15542823,15312649,15231748,15128733,15122324,15107821,14712482,14583455,12874272,12857746,12793438,12764135,12435627,12419246,12034730,11719430,11522815,11441023,11430826,10823891,10575014,10485843,9927733,9569025,9380514,8514802,8233802,3026737,2762147,15761153 6497 NM_003036,AL590822,AY331180,AY334557,AY338687,CH471183,X15218 NP_003027,CAI12482,AAP94890,AAP97864,AAQ16119,EAW56117,EAW56118,CAA33288,P12755,Q7Z459,Q7Z461,Q7Z462,AAI56045,AAI57083 Hs.663133 GDB:119595 SKV 2292936,2293000 PRSTS118_H,PRSTS117_H protein-coding 1314830 SKIL SKI-like oncogene 1580863 10531062,9207045,18261624,17625116,17591695,17510063,17469184,17074815,17062133,16966324,16442497,16314499,15809735,15677458,15489334,15231748,12764135,12522145,12477932,12426322,11691834,11511096,11389444,9927733,8233802,2762147,15761153,16109768 6498 NM_005414,AC073288,CH471052,BC059386,U70730,X15217,X15219,Z19588 NP_005405,EAW78511,EAW78512,AAH59386,AAB65850,CAA33287,CAA33289,CAA79636,P12757,ABZ92141 Hs.581632 GDB:204117 SNO|SnoA|SnoN protein-coding 1604357 SKIP skeletal muscle and kidney enriched inositol phosphatase This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternative splicing of this gene results in two transcript variants encoding different isoforms. 10753883,16002321,17353931,16189514,12621583,12556481,12536145,12477932,8968500,8968499 51763 NM_016532,NM_130766,AB036831,AC100748,CH471108,AB036829,AB036830,BC004362,CR590219,CR596159,CR623148,U45973 NP_057616,NP_570122,BAA92342,EAW90614,EAW90615,EAW90616,EAW90617,EAW90618,BAA92340,BAA92341,AAH04362,AAB03214,Q9BT40,ABM83741,ABM87060 Hs.632238 protein-coding 1351044 SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae) DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. 1580863 7610041,15231747,17997607,17542649,17081983,16964243,15302935,12477932,11719186,11487501,10774746,9799600,9705521,9264031,8812450,8132574,7759100,16189514 6499 AL844853,CH471081,U37116,U37117,X98378,AB209605,AL529319,BC015758,BE395851,BG396326,CR616648,U09877,Z48796,NM_006929,NG_004658,NG_005163,NG_000013,AF019413,AF059675,AL049547,AL645922,AL662849 CAI17460,CAI41863,EAX03554,EAX03555,EAX03556,EAX03557,AAA93259,AAA93258,CAA67024,BAD92842,AAH15758,AAB52523,CAA88733,O76046,Q15477,Q59F56,Q5JP73,ABW03481,Q5ST65,Q5ST66,Q96BC0,Q9BQJ5,Q9NPK3,ABM83013,NP_008860,AAB67978,AAC78607,CAB89307 Hs.89864 GDB:542886 170A|DDX13|HLP|SKI2|SKI2W|SKIV2 protein-coding 1606819 SKIV2L2 superkiller viralicidic activity 2-like 2 (S. cerevisiae) 14667819,15231747,18309376,17542649,17412707,16782053,15635413,15489334,14676314,12477932,12429849,11991638,11812149,11790298,11719186,11110791,7584044,17353931 23517 NM_015360,AC010480,AC020728,CH471123,AK291649,BC014669,BC028604,BC031779,BC065258,BC104996,BC105291,BC113509,BX640789,D29641 NP_056175,EAW54919,BAF84338,AAH14669,AAH28604,AAH31779,AAH65258,AAI04997,AAI05292,AAI13510,CAE45877,BAA06124,P42285,Q3MHC9 Hs.274531 GDB:9784465 Dob1|KIAA0052|MGC142069|Mtr4 protein-coding 1347276 SKP1 S-phase kinase-associated protein 1 This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. 10531037,10531035,10508920,9990852,9872132,9858587,9827542,9430629,9031623,8912791,8706131,8646875,8530064,7558018,7553852,12628165,16189514,17353931,16009132,15469984,11231585,17569795,16705156,16682006,16123585,15635413,15489334,15280393,14743216,14702039,12746458,12679038,12665572,12609982,12481031,12477932,12417738,12140560,12117534,11961546,11956208,11717410,11585921,11389839,11359933,11337588,11099048,10713156,10644755,14685242,15070733,17274640,12791267,9660940,12820959 6500 NM_006930,NM_170679,AC011336,AC104109,CH471062,L49170,L49173,L49176,AI025746,AI028694,AK057110,BC009839,BC020798,BC025673,BC065730,BI552966,BI670085,BQ632052,CR595380,CR597720,CR598005,CR599093,CR599742,CR602170,CR602760,CR608588,CR610615,CR612040,CR617233,CR620059,CR621165,U33760,U37558,Z47087 NP_008861,NP_733779,EAW62270,EAW62271,EAW62272,EAW62273,EAW62274,EAW62275,EAW62276,AAB50264,AAB50265,AAB50032,AAH09839,AAH20798,AAH25673,AAH65730,AAC50241,AAA79202,CAA87392,P63208,P78389,P78561,ABM82438,ABM85629 Hs.171626 GDB:700757 EMC19|MGC34403|OCP-II|OCP2|SKP1A|TCEB1L|p19A protein-coding 1350075 SKP1B S-phase kinase-associated protein 1B (p19B) 8646875 6501 GDB:700758 1607086 SKP2 S-phase kinase-associated protein 2 (p45) This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates 2 transcript variants encoding different isoforms. 11237742,11231585,11226270,11099048,10871850,10559916,10559858,10386600,9858587,9827542,9430629,8646875,16103164,16189514,12609982,15070733,15735731,15491322,15489334,15483027,15469821,15355997,15342634,15297415,15220466,15215173,15201993,15138278,15096506,15041716,15014503,15014502,14993212,14707456,14615539,14592976,14586067,14558671,12925736,12904306,12883474,12861003,12840033,12738731,12670508,12579266,12529174,12477932,12435635,12429629,12351407,12208864,15605273,12188931,12133445,11961546,11689688,11425869,11337588,11931757,12504026,12813041,16286470,17157259,7553852,18243116,18202766,18196971,18097041,18064393,18008005,17962192,17908926,17785450,17724117,17652624,17639054,17581405,17560996,17513606,17499794,17471231,17431674,17407140,17384652,17303695,17283060,17081983,16979657,16951159,16924241,16902410,16883603,16861300,16835890,16803887,16774918,16754685,16705171,16636894,16581786,16537899,16525656,16489076,16428491,16425372,16425184,16376880,16232199,16024059,15963850,15949444,15855168,15833859,15767556,15756449,15736055,15735730,15645119,15631990 6502 NM_032637,NM_005983,AC008942,CH471119,AB050979,AB050980,AB050981,AK291255,AY029177,BC001441,BC007441,CR596593,CR616738,U33761 NP_116026,NP_005974,EAW55934,EAW55935,EAW55936,EAW55937,EAW55938,BAB87200,BAB87201,BAB87202,BAF83944,AAK31593,AAH01441,AAH07441,AAC50242,Q13309 Hs.23348 GDB:700759 FBL1|FBXL1|FLB1|MGC1366 protein-coding 1351693 SLA Src-like-adaptor 1580863 7543898,16521218,16344560,15489334,15117958,12477932,11696592,11179692,10779329,10662792,10449770,9660183,9020066,8825655,16189514 6503 NM_001045557,NM_001045556,NM_006748,AF235100,AF305872,CH471060,Y18324,AJ238591,BC007042,BT019994,BX648382,CR536537,CR594017,CR601997,CR617843,D89077,DA483212,DA522819,DA999385,U30473,U44403 NP_001039022,NP_001039021,NP_006739,EAW92159,CAB53536,AAH07042,AAV38797,CAG38774,BAA13758,AAC50357,AAC27662,Q13239,Q5TZW1,Q6FI01 Hs.75367 GDB:624593 SLA1|SLAP protein-coding 1320351 SLA2 Src-like-adaptor 2 This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 11891219,11696592,15489334,14702039,12527895,12477932,12024036,11780052 84174 NM_032214,NM_175077,AL031662,AL050318,CH471077,AF290985,AF290986,AF326353,AK025645,AK291513,BC042041,BF062179 NP_115590,NP_778252,CAI21397,CAI21398,CAI23504,CAI23505,EAW76116,EAW76117,EAW76118,EAW76119,AAL38197,AAL38198,AAL29204,BAB15201,BAF84202,AAH42041,Q9H6Q3 Hs.708045 GDB:11504379 C20orf156|FLJ21992|MGC49845|SLAP-2|SLAP2 protein-coding 1603921 SLAIN1 SLAIN motif family, member 1 16546155,16344560,14702039,12477932 122060 NM_001040153,NM_144595,AL354831,CH471093,AK054608,AK289600,AK289714,AL834203,AL834332,BC045177,BC111497,BI599720,DA096260,DA343547 NP_001035243,NP_653196,CAI12503,CAI12504,CAI12505,CAI12507,CAI12508,CAI12509,EAW80571,BAB70772,BAF82289,BAF82403,CAD38891,CAD39000,AAH45177,AAI11498,Q5T6P2,Q7L0J2,Q8ND10,Q8ND83 Hs.349955 C13orf32|FLJ30046|MGC131899 protein-coding 1602874 SLAIN2 SLAIN motif family, member 2 16546155,14702039,12477932,10819331,7757816 57606 NM_020846,AC024191,AC096952,AC098873,CH471069,AB040891,AK025264,AK026476,AK291006,BC006139,BC007701,BC031691,BC040993,CB157681,CR621779,Z25182 NP_065897,EAW93057,EAW93058,BAA95982,BAB15095,BAF83695,AAH31691,Q8IW51,Q9H705,Q9P270 Hs.479677 FLJ21611|KIAA1458 protein-coding 1344109 SLAMF1 signaling lymphocytic activation molecule family member 1 1580863 12621057,12610126,12477932,12458214,12270725,11806999,11689425,11544303,11489980,11477068,11414741,10972291,10802665,10229804,9774102,9091591,16189514,10607564,7617038,18020706,17715217,17692919,17560639,16889684,16344560,15661039,15356162,15315965,15308701,15193925,14707094,14657878,12629654 6504 NM_003037,AF252304,AF252305,AF252306,AL121985,AL138930,CH471121,AA825199,AY040554,BC012602,BC067847,BC110349,BC132792,CR590430,DB133023,U33017 NP_003028,AAG10433,AAG10434,AAG17628,CAH73505,CAI15154,EAW52706,AAK77968,AAH12602,AAH67847,AAI32793,AAA75380,Q13291,Q5W172,Q6NVW8,Q96QJ2,Q96QR3,Q9HBE7,Q9HBE8,Q9HBE9 Hs.523660 CD150|CDw150|SLAM protein-coding 1345807 SLAMF6 SLAM family member 6 The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It may function as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. 1580863 17981603,17609265,17045824,16920955,16710414,16410313,15489334,15340161,15153464,14988414,12975309,12928397,12621057,12477932,11489943,10971580,8892612,8756661,6610481 114836 AY358159,BC090928,BC113893,BC114495,NM_052931,AL138930,CH471121,AJ277141,AJ306388,AK125624,AL832854 AAQ88526,AAH90928,AAI13894,AAI14496,Q5BKU7,Q5TAS4,Q96DU3,NP_443163,CAI15155,CAI15156,CAI15157,EAW52713,EAW52714,EAW52715,EAW52716,CAC59749,CAC59750,CAI46161 Hs.492348 KALI|KALIb|Ly108|MGC104953|NTB-A|NTBA|SF2000 protein-coding 1345987 SLAMF7 SLAM family member 7 1580863 11802771,11698418,18216865,17981603,17878365,16710414,16410313,16381901,15489336,15489334,15368295,15340161,12975309,12621057,12477932,12242590,11230166,11220635,11076863 57823 AK292148,AL713801,AL833025,AL834424,AY358512,BC027867,AK292097,NM_021181,AL121985,CH471121,AB027233,AF291815,AF390894,AJ271869,AJ276429,AK290706 BAF84786,BAF84837,CAD39085,AAQ88876,AAH27867,Q0JTK9,Q9NQ25,CAL37819,CAL38153,NP_067004,CAC00579,CAH73507,CAH73508,EAW52703,EAW52704,BAB61022,AAK11549,AAL26989,CAB76561,CAB81950,BAF83395 Hs.517265 19A|CD319|CRACC|CS1 protein-coding 1314782 SLAMF8 SLAM family member 8 This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. 1580863 16710414,16344560,16303743,15489334,15340161,14702039,12928397,12477932,11313408 56833 NM_020125,AL590560,CH471121,CQ782632,AF144235,AF146761,AK074669,BC109194,DA578369 NP_064510,CAH71103,CAH71104,EAW52774,CAF85891,AAD33923,AAF67470,BAC11123,AAI09195,Q9P0V8,Q9Y351 Hs.438683 BLAME|FLJ20442|MGC129578|SBBI42 protein-coding 1314275 SLAMF9 SLAM family member 9 CD2 (MIM 186990) family members, such as SLAMF9, are encoded by genes near the centromere of chromosome 1. They function as coreceptors for lymphocyte activation and/or adhesion via their extracellular and cytoplasmic domains (Fennelly et al., 2001 [PubMed 11685473]).[supplied by OMIM] 1580863 16710414,15489334,12975309,12477932,11862385,11685473 89886 CH471121,AF275725,AY034613,AY358801,BC070213,BC074754,AL513485,NM_033438 CAI14607,CAI14608,EAW52754,EAW52755,AAK69052,AAK61389,AAQ89161,AAH70213,AAH74754,Q6NSE6,Q96A28,NP_254273 Hs.661712 CD2F-10|CD84-H1|MGC88194|PRO4421|SF2001 protein-coding 1350910 SLBP stem-loop binding protein This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. 1580863 14536070,16189514,9049306,10825184,18025107,17499042,17081983,16982637,16931877,16492733,15916543,15829567,15546920,15489334,15260483,14702039,12588979,12477932,12415002,11782445,11238936,10982817,10207079,8957003,8652556,1338771 7884 NM_006527,AC016773,CH471131,AK091735,AK093314,AK094257,BC014908,BC015703,BT007433,CR593596,CR594689,CR595870,CR596014,CR600158,CR607040,CR611828,CR612255,CR612335,CR614064,CR617547,CR618954,CR625037,CR625225,U75679,Z71188 NP_006518,EAW82576,EAW82577,EAW82578,EAW82579,EAW82580,AAH14908,AAH15703,AAP36101,AAB97091,CAA94918,Q14493,Q53XR2,ABM83296,ABM86505 Hs.298345 GDB:128785 HBP stem-loop (histone) binding protein protein-coding 737174 SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter family), member 1 Sodium/bile acid cotransporters are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids, one absorbing from the intestinal lumen, the bile duct, and the kidney with an apical localization (SLC10A2; MIM 601295), and the other being found in the basolateral membranes of hepatocytes (SLC10A1).[supplied by OMIM] 1580863 8132774,17635184,16123152,16027164,15922475,15604201,15489334,14701722,14660639,12663868,12477932,12044156,11802798,11031103 6554 NM_003049,AF184235,AL157789,CH471061,AY544127,BC069799,BC069822,BC074724,BC126298,L21893 NP_003040,AAD56541,EAW81011,AAT11158,AAH69799,AAH69822,AAH74724,AAI26299,AAA36381,Q14973,Q9UK36 Hs.952 GDB:344932 NTCP|NTCP1 solute carrier family 10, member 1 protein-coding 736402 SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 1624186,1580863 9109432,7592981,18063707,18028035,17960397,17942302,16899538,16749860,16749855,16411770,16237211,16230354,15952798,15350125,15304498,15239098,15057823,12364586,12220224,12055195,11742882,11589382,11535543,11396803,9458785,8661017 1624186 6555 NM_000452,AE014304,AL161771,CH471085,U67674,Z54350,BC130521,BC130523,U10417 NP_000443,AAN16026,CAC39447,EAX09074,AAC95398,CAA91161,AAI30522,AAI30524,AAC51870,Q12908 Hs.194783 GDB:677534 ASBT|ISBT|NTCP2 solute carrier family 10, member 2 protein-coding 1354490 SLC10A3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. 1580863 16381901,15489336,12477932,11256614,11076863,8733135,3186440,1354645 8273 NM_019848,BX664739,CH471172,L44140,X12458,BC004966,CR590776,CR591082,CR598961,CR610627,CR622264 NP_062822,CAI43236,CAI43237,CAI43238,CAQ10463,EAW72697,EAW72698,EAW72699,AAA92651,CAA30998,AAH04966,P09131,Q0JSI4,Q5HY78,Q5HY79,Q9BSL2,CAL38023,CAL38530 Hs.522826 DXS253E|P3 protein-coding 1319926 SLC10A4 solute carrier family 10 (sodium/bile acid cotransporter family), member 4 1580863 17106928,16541252,15489334,12477932 201780 NM_152679,AC096952,CH471069,AK126542,AY704414,BC012048,BC019066 NP_689892,EAW93061,AAW30130,AAH12048,AAH19066,Q96EP9,ABM83554,ABW03505 Hs.132591 MGC29802|P4 protein-coding 1314423 SLC10A5 solute carrier family 10 (sodium/bile acid cotransporter family), member 5 17632081,16541252,14702039 347051 NM_001010893,AC132219,CH471068,AK095808,AY825924,BC136625,BC136631 NP_001010893,EAW87101,AAV80707,AAI36626,AAI36632,Q5PT55 Hs.683849 P5 protein-coding 1604951 SLC10A6 solute carrier family 10 (sodium/bile acid cotransporter family), member 6 17491011,16541252,15020217,12477932 345274 NM_197965,AC079237,AC093827,AC105413,CH471057,AJ583502,BC107051,BC107052,EF437223 NP_932069,EAX05969,CAE47477,AAI07052,AAI07053,ABO38126,Q3KNW5 Hs.452996 MGC129575|MGC129576|SOAT protein-coding 1351041 SLC10A7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 17628207,16381901,15932064,15489336,15489334,12477932,11256614,11230166,11076863 84068 BC120971,NM_001029998,NM_032128,AC093863,AC106879,CH471056,AK075364,AK126000,AK172727,AK291046,AL136728,AY346324,BC023288,BC063471,BC120970,BC127626,BC127627,BC148252,BC150308,CR933647,CR936751,DQ122860,DQ122861,DQ871036 NP_001025169,NP_115504,EAX05026,BAC11571,BAF83735,CAB66662,AAQ84722,AAH23288,AAH63471,AAI20971,AAI20972,AAI27627,AAI27628,AAI48253,AAI50309,CAI45948,AAZ32256,AAZ32257,ABI31650,Q0GE19,CAL37739,AAI46685 Hs.659209 C4orf13|DKFZp313H0531|DKFZp566M114|DKFZp779O2438|MGC25043|P7 chromosome 4 open reading frame 13 protein-coding 736532 SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. 1331525,1580863 8537108,10967134,7717395,18454481,18374540,18340647,18062835,17955444,17950034,17917676,17876529,17624216,17606764,17493019,17466092,17459898,17385031,17378896,17371589,17298451,17223386,17211726,17157384,17131479,17067929,17062442,17034726,16981342,16734634,16638645,16637265,16516037,16466030,16461017,16426236,16395392,16344560,16182589,16135804,16125248,16103355,16059695,16002921,15988535,15877293,15860357,15825023,15757519,15755200,15702130,15644277,15641099,15636493,15584484,15381817,15223010,15191519,15141734,15004750,14989712,14960532,14703493,12892615,12799146,12729343,12618857,12595908,12552460,12527228,12477932,12447767,12404162,12391841,12234138,12195379,12142377,12136340,12135431,12070036,12019922,11960304,11929588,11791966,11380946,11358358,10227396,10049947,9271100,9034150,8529098,8490962,7980580,7964458 1331525 6556 AC021016,AF229163,AJ494846,CH471063,L38593,X82015,AB209650,BC033754,BC037550,BC041787,BC071165,CA307182,CR593183,D38171,D50402,D50403,DB284801,L32185,NM_000578 NP_000569,AAG15403,AAG15405,CAD39201,EAW70611,EAW70612,EAW70613,EAW70614,AAA57556,AAA57557,CAA57541,BAD92887,AAH41787,AAH71165,BAA07370,BAA08907,BAA08908,AAA57521,P49279,Q14970,Q59F11,Q6GQY9,Q8IV72,Q8NDV6,Q9HBK0 Hs.591607 GDB:371444 LSH|NRAMP|NRAMP1 solute carrier family 11 member 1 protein-coding 737578 SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 The SLC11A2 gene encodes a divalent metal transporter (DMT1), which carries iron, manganese, cobalt, nickel, cadmium, lead, copper, and zinc. DMT1 participates in cellular iron absorption at the luminal surface of the duodenum as well as in other areas of the body (Hubert and Hentze, 2002 [PubMed 12209011]; Ludwiczek et al., 2007 [PubMed 17293870]).[supplied by OMIM] 1580428,1580430,1580431,729808,1580863 9241278,7613023,17980698,17510944,17293870,17109629,16439678,16123094,15880641,15792797,15644277,15636493,15489334,15459009,15223008,15139022,15024413,14768003,14702039,12973678,12949888,12949720,12734107,12662899,12477932,12475959,12209011,12139757,12127992,11943663,11897618,11891802,11842004,11755534,11439223,11095929,10984552,10751401,9790986,9642100,9464519 1580428,1580430,1580431,729808 4891 AB062284,NM_000617,AB015355,AC087884,AF064482,CH471111,AB004857,AF046997,AF064484,AJ493662,AK094735,AK128640,AL832886,BC002592,BC100014,CR604434,CR619274,L37347 NP_000608,BAA34374,AAC21460,AAC21461,EAW58159,EAW58160,EAW58161,EAW58162,EAW58163,EAW58164,EAW58165,BAA24933,BAB93467,AAC18078,AAC21459,CAD38517,AAH02592,AAI00015,AAA79219,O94801,P49281,Q498Z5,Q8IUD7 Hs.505545 GDB:581649 DCT1|DMT1|FLJ37416|NRAMP2 solute carrier family 11 member 2 protein-coding 731943 SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 The sodium-potassium-chloride cotransporter isoform 2 is kidney-specific and is found on the apical membrane of the thick ascending limb of Henle's loop and the macula densa. It accounts for most of the NaCl resorption with the stoichiometry of 1Na:1K:2Cl and is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. 1624188,1580863 8640224,7929272,18391953,17998760,17460608,16832045,16807401,16344560,15167446,14967834,14528028,12761241,12477932,12471046,11564973,11509477,9672238,9655365,8589530 1624188 6557 AC023355,AC066612,AJ005332,AJ005333,CH471082,CS223391,AA917702,AB032525,AB032527,BC040138,BX647067,BX647484,DA632985,EF559316,U58130,NM_000338 NP_000329,CAA06479,CAA06480,EAW77344,EAW77345,EAW77346,CAJ46935,BAA84574,BAA84576,AAH40138,ABU69043,AAB07364,O76029,O76030,Q13621,Q8IUN5,AAI48652,AAI56820 Hs.123116,Hs.605373 GDB:386121 BSC1|MGC48843|NKCC2 solute carrier family 12, member 1 protein-coding 732816 SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporters), member 2 By moving chloride into epithelial cells, the Na-K-Cl cotransporter SLC12A2 aids transcellular movement of chloride across both secretory and absorptive epithelia (Payne et al., 1995 [PubMed 7629105]). See also SLC12A1 (MIM 600839) and SLC12A3 (MIM 600968).[supplied by OMIM] 1580582,1580583,1580584,1580863 7629105,18391953,18032481,17478539,16227993,16222701,15899883,15347682,15280386,14982922,14563843,12740379,12657561,12477932,12355171,12054469,11943682,11700976,11042348,10736171,9672238,8889548,8663127 1580582,1580583,1580584 6558 NM_001046,AC008577,AC011332,CH471062,AA425438,AA425619,AA843086,AB209192,AF439152,AI493213,AK025062,AV708692,AY280459,BC033003,BM978607,CR611229,U30246 NP_001037,EAW62392,EAW62393,EAW62394,BAD92429,AAL32454,AAP33906,AAH33003,AAC50561,P55011,Q4G117,Q53ZR1,Q59GB7 Hs.162585,Hs.643978 GDB:386122 BSC|BSC2|MGC104233|NKCC1 solute carrier family 12, member 2 protein-coding 733325 SLC12A3 solute carrier family 12 (sodium/chloride transporters), member 3 This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. 1580586,1580587,1580588,1580589,1580863 18391953,18362449,18263927,18067089,17997379,17981812,17975670,17954289,17885550,17873326,17654016,17653210,17460608,17329572,17159356,16887815,16688122,16505253,16221718,15915338,15824464,15480096,15309683,15102966,15069170,14766743,14675033,14655226,14578305,12686679,12515852,12477932,11893344,11832422,11564973,11076863,9596079,9373149,8954067,8812482,8125298,8528245,8670281 1580586,1580587,1580588,1580589 6559 NM_000339,NM_001126107,NM_001126108,AC012181,CH471092,AK223133,AK315298,BF510426,U44128,X91220 NP_000330,NP_001119579,NP_001119580,EAW82888,EAW82889,EAW82890,EAW82891,AAC50355,CAA62613,P55017,Q53FZ8,AAI11851 Hs.658965 GDB:642135 FLJ96318|NCCT|TSC solute carrier family 12, member 3 protein-coding 736767 SLC12A4 solute carrier family 12 (potassium/chloride transporters), member 4 729801,1580863 8663127,9516379,18391953,15489334,15262997,15231748,15039017,14976052,14702039,12902337,12637262,12477932,11551954,10564083,8268911 729801 6560 NM_005072,AC040162,AY211326,CH471092,AF047338,AF053402,AF054505,AF054506,AK026911,AK097808,AY026038,BC021193,BC035480,U55054 NP_005063,AAO83657,EAW83191,EAW83192,EAW83193,EAW83194,EAW83195,EAW83196,AAC32815,AAC35282,AAC39684,AAC39685,AAK01946,AAH21193,AAC50563,Q6XSF4,Q9UP95,ABM83180,ABM86383 Hs.10094 GDB:4643024 FLJ40489|KCC1 solute carrier family 12, member 4 protein-coding 731044 SLC12A5 solute carrier family 12, (potassium-chloride transporter) member 5 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. 1580863 12106695,18391953,17715129,17693402,16324114,16291749,15932617,15528236,14702039,12739168,12637262,12477932,11780052,11701957,11395011,10574461,9110174,8619474 57468 NM_020708,AL162458,CH471077,AB033002,AF208159,AK055066,AK098371,AK289758,BC036329,BC132668,BC132670,U79245 NP_065759,CAH74053,CAH74054,EAW75771,EAW75772,EAW75773,BAA86490,AAG43493,BAF82447,AAI32669,AAI32671,Q5VZ42,Q9H2X9 Hs.21413 GDB:11504565 KCC2|KIAA1176 protein-coding 1322734 SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6 This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. 1580594,1580863 12657561,12637262,12477932,12368912,11551954,10600773,10347194,18391953,18006853,17893295,17133354,16606917,16098236,16048901,15262997,10187864 1580594 9990 NM_001042495,NM_001042496,NM_001042494,NM_001042497,NM_133647,NM_005135,AC021822,AC079203,AF314956,CH471125,AF105366,AF108831,AF116242,AF477977,AF531258,AF531259,AF531260,AK128133,AK292550,AL117500,BC033894,BC051709,BC051744,BC070107,BC126241,BC126243,BC150584,BX648195,DQ138323 NP_001035960,NP_001035961,NP_001035959,NP_001035962,NP_598408,NP_005126,AAM96215,AAM96216,EAW92295,EAW92296,EAW92297,EAW92298,EAW92299,EAW92300,EAW92301,EAW92302,AAD39742,AAD25337,AAF24986,AAL85335,AAQ10026,AAQ10027,AAQ10028,BAF85239,CAB55965,AAH51744,AAH70107,AAI26242,AAI26244,AAI50585,CAI46042,ABA02873,A0AV76,Q2VI00,Q3ZCQ6,Q5HYC7,Q6NSI7,Q7Z2E7,Q7Z4G5,Q9UHW9 Hs.510939 GDB:9958559 ACCPN|DKFZP434D2135|KCC3|KCC3A|KCC3B protein-coding 1348814 SLC12A7 solute carrier family 12 (potassium/chloride transporters), member 7 1580863 10347194,18391953,17133354,15489334,15262997,14702039,14698746,12637262,12477932,11976689,11214971,10913127 10723 AC116351,CH471102,CQ859788,AF105365,AK024493,AK024497,AK026625,AL117433,BC007760,NM_006598,BC018982,BC098390,BU953746,DB451347 NP_006589,EAX08178,EAX08179,EAX08180,EAX08181,CAH25944,AAD39741,BAB15783,BAB15787,CAB55921,AAH07760,AAH98390,Q9Y666 Hs.172613 GDB:9958214 DKFZP434F076|KCC4 protein-coding 1345509 SLC12A8 solute carrier family 12 (potassium/chloride transporters), member 8 737840 16344560,16297188,12739168,12477932,11863360,7566098 737840 84561 NM_024628,AC055752,AC108688,AC117488,AF389851,CH471052,AA331231,AA593021,AF345197,AF390442,AK026841,AK123001,BC020506,BC063528,BC126158,BC126160,BG149722,BX538023,CR457363,CR596399,CR749632,DA858738 NP_078904,AAK94307,EAW79399,EAW79400,AAO49174,AAM73657,BAB15571,AAH20506,AAH63528,AAI26159,AAI26161,CAD97969,CAG33644,CAH18426,A0AV02 Hs.658514 GDB:11507819 CCC9|DKFZp686L18248|FLJ23188 protein-coding 1347947 SLC12A9 solute carrier family 12 (potassium/chloride transporters), member 9 14702039,12690205,12477932,11239002,11060040,10871601,16189514 56996 NM_020246,AC011895,AF312032,CH236956,CH471091,AB033284,AF284422,AK024420,AK024421,AK024466,AK024494,AK026624,AK090458,AK128873,BC000154,BG818005,BI554206,BM921877,CR594298 NP_064631,AAK21008,AAK21009,EAL23818,EAW76475,EAW76476,EAW76477,EAW76478,EAW76479,EAW76480,EAW76481,EAW76482,EAW76483,EAW76484,EAW76485,EAW76486,BAB40456,AAF88060,BAB15710,BAB15711,BAB15756,BAB15784,BAC03439,AAH00154,Q8NF23,Q9BXP2,Q9H7I6,Q9H7L3,Q9H7Q7,Q9H7Q8 Hs.521087 CIP1|FLJ46905 protein-coding 1346909 SLC13A1 solute carrier family 13 (sodium/sulfate symporters), member 1 1580863 14702039,12867358,12857732,12853948,12690205,12477932,11161786 6561 NM_022444,AC073054,AC091319,CH236947,CH471070,AF260824,AI209074,AI469201,AK026413,BC111775 NP_071889,AAS01997,AAS01993,EAL24337,EAW83582,AAG60583,BAB15477,AAI11776,Q2NKK0,Q75LT0,Q75MH3,Q9BZW2,AAI40318,AAI48687 Hs.489849 GDB:386123 NAS1|NaSi-1 protein-coding 736607 SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 1580863 8967342,18161988,17470169,15774465,15620109,15489334,14702039,12477932,12445824,10343111 9058 NM_003984,AC015917,CH471159,AK091926,BC096276,BC096277,BC096278,BC096279,U26209 NP_003975,EAW51090,EAW51091,AAH96276,AAH96277,AAH96278,AAH96279,AAA98504,Q13183,Q4VAR9 Hs.102307 GDB:9954818 NADC1|NaDC-1 protein-coding 69657 SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. 1580863 16331647,15561973,15489334,14702039,12915942,12477932,11780052,10992006,10794676 64849 AL442082,AY072810,BC014931,BC035966,BQ946167,NM_001011554,NM_022829,AL034424,AL133520,CH471077,AF154121,AK123351,AK056713,AK096658 CAC09447,AAL66762,AAH35966,Q8WWT9,ABM83581,ABM86820,NP_001011554,NP_073740,CAI42503,CAI42505,CAI42507,EAW75725,EAW75726,AAF73251,BAB71262,BAC04834 Hs.655498 GDB:11503239 NADC3|SDCT2 protein-coding 1345589 SLC13A4 solute carrier family 13 (sodium/sulfate symporters), member 4 1580863 10535998,15607730,12690205,12477932 26266 NM_012450,AC091736,CH236950,CH471070,AB208809,AF169301,BC030689,BC040872,CR597145,CR597198 NP_036582,EAL24058,EAW83857,EAW83858,BAD92046,AAF05907,AAH30689,Q59HF0,Q8N631,Q9UKG4,ABM84484,ABM84966 Hs.200022,Hs.490241 GDB:11503241 SUT-1|SUT1 protein-coding 1351292 SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate.[supplied by OMIM] 16973915,15489334,14702039,12826022,12477932,12445824 284111 NM_177550,AC004706,CH471108,AJ489980,AK127797,AK131206,AK172779,AK172785,AY151833,BC104795,BC112151,CR749584 NP_808218,EAW90292,EAW90293,EAW90294,EAW90295,CAD34590,BAD18398,BAD18760,BAD18766,AAN86530,AAI04796,AAI12152,CAH18382,Q68D44,Q6ZMG6,Q6ZNH7,Q86YT5,Q8IV67 Hs.399496 DKFZp686E17257|MGC138356|NACT protein-coding 1354455 SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 1580863 2890568,7797558,7989337,18067501,15783300,15754970,14985236,14702039,12477932,12093813,11852461,11841450,11807016,10942407,10644814,10514515,9734652,9582331,9215669,8647271,8573795 6563 NM_015865,AC023421,AF046026,AF328890,AJ316564,AY942197,CH471088,AF328892,AK091064,AK123681,AK127452,AK289608,BC040128,BC050539,L36121,U35735,Y19039 NP_056949,AAC69610,AAL37474,CAC86943,AAX20112,EAX01458,EAX01459,BAF82297,AAH50539,AAB00181,CAB60834,Q13336,Q71UV7,Q8WXW8,Q96KQ5 Hs.101307 GDB:386124 FLJ33745|FLJ41687|HUT11|HsT1341|JK|RACH1|UT-B1|UT1|UTE protein-coding 731952 SLC14A2 solute carrier family 14 (urea transporter), member 2 In mammalian cells, urea is the chief end-product of nitrogen catabolism and plays an important role in the urinary concentration mechanism. Thus, the plasma membrane of erythrocytes and some renal epithelial cells exhibit an elevated urea permeability that is mediated by highly selective urea transporters. In mammals, 2 urea transporters have been identified: the renal tubular urea transporter, UT2, and the erythrocyte urea transporter, UT11 (SLC14A1; MIM 111000).[supplied by OMIM] 1580863 17702749,8647271,17344938,17264986,16480766,15189812,12952854,12477932,11590132,11502588,11399654,7989337 8170 NM_007163,AC023421,CH471088,AF349446,AK074236,AK122698,AK292422,BC110445,BC110446,DR002593 NP_009094,EAX01454,EAX01455,AAL08485,BAB85026,BAF85111,AAI10447,Q15849,Q2TBD7,Q8TEC4 Hs.230795 GDB:9865055 FLJ16167|HUT2|MGC119566|MGC119567|UT-A2|UT2|UTA|UTR|hUT-A6 solute carrier family 14, member 2 protein-coding 730868 SLC15A1 solute carrier family 15 (oligopeptide transporter), member 1 1580863 7896779,18028524,17009102,16963449,7592745,16627568,16568107,16328452,16283203,16253763,16198124,16181611,15981923,15974593,15832510,15832502,15802293,15623827,15521010,15489334,15057823,14725353,14561585,14532279,12788085,12679938,12649372,12548404,12477932,11944083,11897620,9508831,9458100,9299407,9207295,9115234 6564 NM_005073,AL353574,AL391670,CH471085,AB001328,AF043233,AY634368,BC096327,BC096328,BC096329,BC099651,EU544224,U13173,U21936 NP_005064,CAC27441,CAI15619,EAX08991,EAX08992,EAX08993,BAA22632,AAC15477,AAT48121,AAH96327,AAH96328,AAH96329,ACB71122,AAB61693,AAA63797,O14496,O43641,P46059,Q4VAL9,Q6GV26 Hs.436893 GDB:386125 HPECT1|HPEPT1|PEPT1 protein-coding 731699 SLC15A2 solute carrier family 15 (H+/peptide transporter), member 2 1580863 7756356,16738539,15981923,15626774,15282265,15020234,12579467,12477932,12388627,11944083 6565 NM_021082,AC072031,CH471052,AK289820,BC020743,BC038445,BC044572,S78203 NP_066568,EAW79496,BAF82509,AAH20743,AAH44572,AAB34388,Q16348,Q86UE9 Hs.518089 GDB:4642996 PEPT2 protein-coding 1348958 SLC15A3 solute carrier family 15, member 3 633591,1580863 12477932,11741232,11336635 633591 51296 NM_016582,AP003721,CH471076,AB020598,AF135600,AK127216,AK130141,BC025710,BC037974,CR607140,CR615238,CR623241 NP_057666,EAW73915,EAW73916,BAA93432,AAQ13565,AAH25710,AAH37974,Q05CH4,Q8IY34 Hs.237856 FLJ26631|OCTP|PHT2|PTR3|hPTR3 protein-coding 733038 SLC15A4 solute carrier family 15, member 4 1580863 18259684,14702039,12477932,11741232 121260 NM_145648,AC108704,CH471054,AF461893,AK095717,AY038999,AY050629,BC028394,BC146803,CR609573,CR611128 NP_663623,EAW98494,EAW98495,AAQ04807,AAK72099,AAK95565,AAH28394,AAI46804,Q71M34,Q7Z5F8,Q8N697,Q8TAH0 Hs.507260,Hs.699387 FP12591|PHT1|PTR4 peptide/histidine transporter protein-coding 737474 SLC16A1 solute carrier family 16, member 1 (monocarboxylic acid transporter 1) The SLC16A1 gene encodes a monocarboxylate transporter (MCT1) that mediates the movement of lactate and pyruvate across cell membranes Import and export of these substrates by tissues such as erythrocytes, muscle, intestine, and kidney are ascribed largely to the action of a proton-coupled MCT (Garcia et al., 1994 [PubMed 8124722]).[supplied by OMIM] 1580863 1429658,17353931,8124722,18188595,18079261,17701893,17182800,17082373,17081983,17016429,16441976,16408234,16403470,16370372,16150873,15901598,15804185,15765403,15489334,15135232,14724187,14702039,12949353,12759536,12739169,12657613,12479094,12477932,11953883,11944921,11882670,11820324,10921872,10590411,10562613,10471310,9824713,8889548,7835905 6566 NM_003051,AJ438945,AL158844,CH471122,AJ438942,AJ438943,AK000641,AK094064,AL162079,BC026317,BC045664,BM712667,CR602423,CR624057,DB443025,L31801 NP_003042,CAD27707,CAI21872,CAI21873,CAI21874,CAI21875,EAW56551,EAW56552,EAW56553,CAB82412,AAH26317,AAH45664,AAC41707,P53985,Q49A45,Q5T8R3,Q5T8R4,Q5T8R5,Q5T8R6,ABM86212,ABW03657 Hs.75231 GDB:373211 FLJ36745|MCT|MCT1|MGC44475 solute carrier family 16, member 1 protein-coding 731538 SLC16A10 solute carrier family 16, member 10 (aromatic amino acid transporter) SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM] 1580863 15918515,12739169,12477932,11827462,11278976,11278508 117247 NM_018593,AL360227,CH471051,AB057445,AK126183,AK172789,BC017968,BC034031,BC066985 NP_061063,CAH73732,CAH73733,CAH73734,CAH73735,EAW48298,EAW48299,BAB84670,BAD18768,AAH17968,AAH34031,AAH66985,Q05BR4,Q5VWW7,Q5VWW8,Q8TF71,Q9P1I2 Hs.591327 GDB:11507821 PRO0813|TAT1 solute carrier family 16, member 10 protein-coding 1322416 SLC16A11 solute carrier family 16, member 11 (monocarboxylic acid transporter 11) 1580863 16303743,12739169,12477932 162515 NM_153357,AC040977,CH471108,CQ783564,AK074674,BC093860,BC093886 NP_699188,EAW90268,EAW90269,EAW90270,CAF86732,BAC11128,AAH93860,AAH93886,Q8NCK7 Hs.336564 FLJ90193|MCT11 solute carrier family 16 (monocarboxylic acid transporters), member 11 protein-coding 1606094 SLC16A12 solute carrier family 16, member 12 (monocarboxylic acid transporter 12) 18304496,12739169,12477932 387700 NM_213606,AL353146,AL355342,CH471066,AK124901,AK127303,BC086873,CR936657 NP_998771,CAI12382,CAI12383,EAW50134,BAC85987,BAC86925,AAH86873,Q6ZSM3 Hs.530338 DKFZp686E188|MCT12 protein-coding 1354212 SLC16A13 solute carrier family 16, member 13 (monocarboxylic acid transporter 13) 12739169,12477932 201232 NM_201566,AC040977,CH471108,BC109286,BC131739,BC142618,BN000145 NP_963860,EAW90272,AAI09287,AAI31740,AAI42619,CAD80156,Q7RTY0 Hs.448010 MCT13 protein-coding 1320146 SLC16A14 solute carrier family 16, member 14 (monocarboxylic acid transporter 14) 14702039,12739169,12477932 151473 NM_152527,AC093171,CH471063,AK055317,AK055356,AK123207,AK292873,AL833470,BC034382,BC065524,BN000146,BX648181 NP_689740,AAY24109,EAW70913,EAW70914,BAB70909,BAC85558,BAF85562,AAH34382,AAH65524,CAD80157,Q05BQ4,Q6ZWE5,Q7RTX9 Hs.504317 FLJ30794|MCT14 solute carrier family 16 (monocarboxylic acid transporters), member 14 protein-coding 737451 SLC16A2 solute carrier family 16, member 2 (monocarboxylic acid transporter 8) 1304408,1599329,1580863 9425115,7981683,17684393,17356046,17081983,16957765,16887882,15889350,15834651,15661862,15488219,14661163,12871948,12739169,9545634,9110174,8619474,7829101 1304408,1599329 6567 NM_006517,AC004073,AL157934,CH471104,U05316,U05321,AB085789,AF055025,AW022421,U05315 NP_006508,EAW98644,EAW98645,AAB60375,BAC76827,AAB60374,P36021,Q5JUQ3,AAI56063,AAI56881 Hs.75317 GDB:386126 AHDS|DXS128|DXS128E|MCT7|MCT8|MRX22|XPCT monocarboxylate transporter 8 protein-coding 731750 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM] 724632,1580863 9425115,17502341,17081983,15489334,12739169,12657613,12477932,10921872,10510291,9373149,8125298 724632 9123 NM_001042422,NM_004207,NM_001042423,AC132872,CH471099,AK127319,AK223040,BC112267,BC112269,CR604145,CR620431,U81800 NP_001035887,NP_004198,NP_001035888,EAW89753,EAW89754,EAW89755,EAW89756,EAW89757,BAD96760,AAI12268,AAI12270,AAC52015,O15427,Q53G91 Hs.696009 GDB:9955075 MCT3|MCT4|MGC138472|MGC138474 monocarboxylate transporter protein-coding 1348929 SLC16A4 solute carrier family 16, member 4 (monocarboxylic acid transporter 5) 724632,1580863 9425115,18188595,18079261,18056982,17082373,16710414,16452478,16408234,16403666,15917240,15135232,14724187,12739169,12657613,12477932,11101640,10510291,10329977,9373149,8125298 724632 9122 NM_004696,AL355488,CH471122,AK129985,AK223307,AK290720,AL833619,BC021664,BX647948,U59185 NP_004687,CAI19078,CAI19079,EAW56443,EAW56444,EAW56445,EAW56446,BAD97027,BAF83409,AAH21664,AAB72035,O15374,Q53FH9,Q8WU09 Hs.351306 GDB:9955074 MCT4|MCT5 solute carrier family 16 (monocarboxylic acid transporters), member 4 protein-coding 1351583 SLC16A5 solute carrier family 16, member 5 (monocarboxylic acid transporter 6) 724632,1580863 9425115,15489334,14702039,12739169,12477932,10510291,16189514 724632 9121 NM_004695,AC111186,CH471099,AK000416,AK092512,BC009684,BC033611,CR597096,CR618619,U59299 NP_004686,EAW89232,EAW89233,EAW89234,EAW89235,AAH09684,AAH33611,AAC52013,O15375,ABM85080 Hs.592095 GDB:9955073 MCT5|MCT6 solute carrier family 16 (monocarboxylic acid transporters), member 5 protein-coding 1343675 SLC16A6 solute carrier family 16, member 6 (monocarboxylic acid transporter 7) 724632,1580863 9425115,17081983,16174808,12739169,12477932,10510291 724632 9120 NM_004694,AC005332,CH471099,AK290417,BC064832,BC127749,BC127750,BC141962,BC150547,BC150548,U79745 NP_004685,EAW89052,EAW89053,EAW89054,BAF83106,AAH64832,AAI27750,AAI27751,AAI41963,AAI50548,AAI50549,AAC52014,O15403,Q6P1X3 Hs.42645,Hs.463838 GDB:9955072 MCT6|MCT7 solute carrier family 16 (monocarboxylic acid transporters), member 6 protein-coding 1346247 SLC16A7 solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 1580863 9786900,18188595,17502341,14757520,12739169,12477932,12115955 9194 NM_004731,AC079905,CH471054,AF049608,AF058056,BC007463,BC030693 NP_004722,EAW97096,EAW97097,EAW97098,EAW97099,AAC70919,AAC13721,AAH30693,O60669,Q8NEM3,ABM84505,ABM85684 Hs.439643 GDB:9955206 MCT2 solute carrier family 16 (monocarboxylic acid transporters), member 7 protein-coding 736227 SLC16A8 solute carrier family 16, member 8 (monocarboxylic acid transporter 3) Lactate transport across cell membranes is mediated by proton-coupled monocarboxylate transporters, such as SLC16A8 Yoon et al. (1999) [PubMed 10493836].[supplied by OMIM] 1580863 10493836,12739169,12657613,10591208,8889548 23539 NM_013356,AF132611,AL031587,CH471095,AF132610,BM709138,BM714896,BM714916 NP_037488,AAF03489,CAB37479,CAQ06645,EAW60214,EAW60215,AAF03565,O95907,AAI56247,AAI57027 Hs.270285 GDB:11507823 MCT3|REMP protein-coding 1347871 SLC16A9 solute carrier family 16, member 9 (monocarboxylic acid transporter 9) 14702039,12739169,12477932 220963 BC126238,BC130567,BN000144,NM_194298,AC022027,AC026391,CH471083,AK021827,AK125791,AK172758,AL122071 CAB59247,AAI26239,AAI30568,CAD80155,Q7RTY1,NP_919274,EAW54194,BAC86293,BAD18743 Hs.499709 C10orf36|FLJ43803|MCT9 protein-coding 1350724 SLC17A1 solute carrier family 17 (sodium phosphate), member 1 1580863 8867793,8288239,14531806,12477932,11704559,10733936,9781053,9545579,7826357 6568 NM_005074,AF362494,AF362495,AF362500,AF362502,AF362504,AL138726,AL391194,CH471087,D83236,AK290783,AY780791,BC101745,BC101747,BG054690,D28532,DC362172,X71355 NP_005065,AAL04478,AAL04479,AAL04481,AAL04482,CAI19543,EAW55494,BAA25645,BAF83472,AAV98361,AAI01746,AAI01748,BAA05888,CAA50490,O60761,Q14916,Q3MIP5,Q5MJP8,Q5TB83,Q96KL5,Q96KL6,Q96KL7,Q96KL8,Q96PF5,AAL04480 Hs.205816 GDB:141889 MGC126794|MGC126796|NAPI-1|NPT-1|NPT1 protein-coding 1318813 SLC17A2 solute carrier family 17 (sodium phosphate), member 2 1580863 9149941,14574404,12477932 10246 NM_005835,AL138726,CH471087,U91328,BC104822,BC112033,U90544 NP_005826,CAC69101,CAI19542,EAW55498,EAW55499,EAW55500,AAB82085,AAI04823,AAI12034,AAB53422,O00624 Hs.591802 GDB:9958802 MGC138238|NPT3 protein-coding 1344101 SLC17A3 solute carrier family 17 (sodium phosphate), member 3 1580863 9149941,15505377,12477932 10786 NM_006632,NM_001098486,AL138726,CH471087,BC017952,BX107915,CB163247,DC340735,DC361549,U90545,Z83953 NP_006623,NP_001091956,CAC16542,CAC16543,CAC16544,EAW55495,EAW55496,EAW55497,AAH17952,AAB53423,O00476,Q8WWC7,Q9H532,Q9H533,Q9H534,ABM82917,ABM86107 Hs.327179 GDB:9958280 NPT4 protein-coding 1314119 SLC17A4 solute carrier family 17 (sodium phosphate), member 4 1580863 10319585,12672655,12477932 10050 NM_005495,AL391194,CH471087,AB020527,AK024903,BC109207,BC109208 NP_005486,CAD20154,EAW55492,EAW55493,BAA76663,AAI09208,AAI09209,Q32MB8,Q9Y2C5 Hs.282931 GDB:9954932 KAIA2138|KIAA2138|MGC129623 protein-coding 1322823 SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5 This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. 1624224,1580863 10581036,17933575,16303743,16170568,15489334,15342556,15172005,15006695,14702039,12794687,12477932,12359136,12121352,11751519,11588980,10947946,10069709,15516337,15510212,8198127,7573152,7557994,7151835,2334213,2010546 1624224 26503 NM_012434,AL121972,AL590428,CH471051,AF244577,AJ387747,AK025880,AK026921,AK075320,BC020961,BP288187,CR618872 NP_036566,CAI15635,EAW48756,EAW48757,EAW48758,AAF97769,CAB62540,BAC11546,AAH20961,Q5SZ76,Q9NRA2,ABM82388,ABW03386 Hs.597422 GDB:10795940 AST|FLJ22227|FLJ23268|ISSD|NSD|SD|SIALIN|SIASD|SLD protein-coding 730912 SLC17A6 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 1580863 18155679,18050306,17660252,15124103,12477932,11306821,10820226 57084 NM_020346,AC040936,CH471064,AB032435,BC069629,BC069640,BC069646 NP_065079,EAW68324,BAA92874,AAH69629,AAH69640,AAH69646,Q9P2U8 Hs.242821 GDB:11507825 DNPI|VGLUT2 protein-coding 733841 SLC17A7 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. 1580863 8632143,10820226,18155679,17660252,16606361,15961236,15653259,14702039,12477932,11001057,10938000 57030 NM_020309,AC010619,CH471177,AB032436,AK057879,AK091061,AK095659,AK289622,BC059379,BG701511 NP_064705,EAW52485,BAA92875,BAF82311,AAH59379,Q9P2U7 Hs.375616 GDB:11504437 BNPI|VGLUT1 protein-coding 733222 SLC17A8 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 1580863 17660252,12477932,12151341 246213 NM_139319,AC026110,AC126308,CH471054,AJ459241,AK128319,BC117229 NP_647480,EAW97637,CAD30553,AAI17230,Q8NDX2 Hs.116871 VGLUT3 vesicular glutamate transporter 3 protein-coding 737319 SLC18A1 solute carrier family 18 (vesicular monoamine), member 1 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM] 1580863 8643547,18451639,18249496,17134514,16936705,16326835,16189177,12871984,12807698,12477932,11431013,7905859 6570 NM_003053,AC025853,CH471080,BC006317,BC009387,CR593627,CR604993,CR612722,CR621905,U39905 NP_003044,EAW63760,EAW63761,EAW63762,EAW63763,AAH06317,AAH09387,AAC50472,P54219,Q96GL6,Q9BRE4,ABM83656,ABM84371,ABM86902 Hs.158322 GDB:138990 CGAT|VAT1|VMAT1 solute carrier family 18, member 1 protein-coding 734009 SLC18A2 solute carrier family 18 (vesicular monoamine), member 2 The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM] 1580863 8095030,18316816,18288090,18045777,17652604,17442673,17427184,17344033,17233532,16408221,16386370,16339215,16189177,16139173,15988470,15850588,15829504,15489334,15475732,15164054,15135235,12871984,12710012,12477932,12112084,12009896,11997877,11443533,11431013,11279528,9045708,8643547,8373557,7905859,8245983 6571 AB044401,AL391988,AL731557,CH471066,X94079,BC030593,BC108927,BC108928,L09118,L14269,NM_003054,L23205,X71354 NP_003045,BAB19009,CAH70348,CAI14828,EAW49428,EAW49429,EAW49430,CAA63824,AAH30593,AAI08928,AAI08929,AAA59877,AAA91853,AAA61290,CAA50489,Q05940,Q4G147,Q99870 Hs.654476 GDB:138749 MGC120477|MGC120478|MGC26538|SVAT|SVMT|VAT2|VMAT2 solute carrier family 18, member 2 protein-coding 732691 SLC18A3 solute carrier family 18 (vesicular acetylcholine), member 3 This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. 61752,1580863 8071310,17373700,16763548,15489334,14622097,12827358,12759818,12477932,12417445,10883397,10727789,8910293,8860234,7616604 61752 6572 AC073366,CH471187,U10554,BC007765,U09210,NM_003055 EAW93093,AAB92675,AAH07765,AAA20497,Q16572,NP_003046 Hs.654374 GDB:386396 MGC12716|VACHT protein-coding 737399 SLC19A1 solute carrier family 19 (folate transporter), member 1 Transport of folate compounds into mammalian cells can occur via receptor-mediated (see MIM 136430) or carrier-mediated mechanisms. A functional coordination between these 2 mechanisms has been proposed to be the method of folate uptake in certain cell types. Methotrexate (MTX) is an antifolate chemotherapeutic agent that is actively transported by the carrier-mediated uptake system. RFC1 plays a role in maintaining intracellular concentrations of folate.[supplied by OMIM] 735239,1580863 7826387,8276792,18427977,18322994,18182479,18053808,18028428,17983788,17891500,17436311,17404734,17334909,17325736,17323057,17311260,17311259,17306382,15297414,17035141,17264302,17113562,16962770,16923800,16917939,16875718,16750224,16365025,16225938,16122883,16115875,15964598,15937947,15922487,15797993,15652157,15564880,15469899,15457444,15337749,15214842,15068242,14602046,14584080,14551190,12855225,12753319,12749765,12707400,12673279,12576457,12519783,12477932,12454742,12411325,12228234,12227830,12175915,12144527,12139489,12087110,11857541,11705857,10830953,10347183,9804996,9602167,9570943,9041240,7852378,7763259,7641195,7615551 735239 6573 AF064602,AL163302,AY089985,AY089986,AY089987,AY089988,BX322561,CH471079,U92868,U92869,U92870,U92871,U92872,U92873,NM_194255,AB209069,AF004354,BC003068,BC128247,CB959876,CB995207,S78996,U15939,U17566,U19720 NP_919231,AAC78834,CAB90483,EAX09331,EAX09332,EAX09333,EAX09334,EAX09335,EAX09336,EAX09337,AAC26162,BAD92306,AAB61417,AAH03068,AAI28248,AAB35058,AAA98442,AAA74914,AAC50180,P41440,Q59GP0,Q9BTX8,Q9UET3,ABM82757,ABM85942 Hs.84190 GDB:454112 CHMD|FOLT|IFC1|REFC|RFC1 solute carrier family 19, member 1 protein-coding 1318484 SLC19A2 solute carrier family 19 (thiamine transporter), member 2 This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. 1599325,1580863 10542220,3060175,17659067,17463047,17331069,16710414,16705148,16373304,16371350,16055442,16015585,14994241,14622275,14615284,12900388,12477932,12454006,12227830,12065289,10978358,10874303,10391223,10391222,10391221,9399900,8889548 1599325 10560 AF158233,AF160186,AF160756,AJ238413,AL021068,AY288293,CH471067,AB209540,AF135488,AF153330,AF160812,AF272359,AJ237724,NM_006996,BC018514,BU608154 NP_008927,AAD51280,AAD51283,AAD54242,CAB50771,CAI19780,CAI19781,CAI19782,AAP37965,EAW90843,EAW90844,EAW90845,EAW90846,EAW90847,BAD92777,AAD45985,AAD43534,AAF15129,AAK54468,CAB50770,AAH18514,O60779,Q59FC0,Q7Z7J1,Q8WV87 Hs.30246 GDB:9837779 TC1|THT1|THTR1|TRMA protein-coding 1322863 SLC19A3 solute carrier family 19, member 3 SLC19A3 is a member of the reduced folate family of micronutrient transporter genes.[supplied by OMIM] 1580863 3060175,11136550,17463047,16790503,16705148,16371350,16055442,15871139,15815621,15623830,15489334,15328374,15217784,14770311,12861052,12477932,11731220 80704 NM_025243,AC064853,AC093762,CH471063,AF271633,AF283317,AI056985,BC032014,CR595614,CR609013 NP_079519,AAX93157,EAW70875,EAW70876,AAG53879,AAK69539,AAH32014,Q9BZV2,ABM83337,ABM86551 Hs.221597 GDB:11504567 THTR2 protein-coding 732972 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 1580863 11317217,11242046,10701825,9375691,8782106,8020993,7914198,7859077,16189514,7521911,17991780,17894418,17646425,17630698,17588938,17360917,17360916,17221839,16858406,16818867,16818866,16800850,16566829,16478724,16198020,16061389,15716409,15489334,15164053,15135231,12843260,12477932,11823462 6505 NM_004170,AF074911,AL136231,AL162587,CH471071,AB008536,AF037982,BC033040,CB984615,CK903716,U03506,U06469,U08989 NP_004161,AAC27511,CAI41261,CAI41264,EAW58786,BAB83767,AAC25029,AAH33040,AAA50430,AAA53215,AAA68628,P43005,ABM83351,ABM86565 Hs.444915 GDB:316130 EAAC1|EAAT3 solute carrier family 1, member 1 protein-coding 732300 SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Mutations in and decreased expression of this protein are associated with amyotrophic lateral sclerosis. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. 70006,1302517,1300048,1580863 11792462,11744157,11698255,11357955,11204345,11071482,11038258,11031254,9585360,9539131,9463476,9450673,9110174,8619474,8172925,7587378,7522567,15927426,14982736,15483603,11891650,11860269,7521911,18378006,18314905,17920768,17684493,17535102,17311320,17311293,16766085,16567804,16344560,16061389,15822905,15660126,15494981,15337309,15296513,15265858,15246112,15135231,15048885,14702039,14662797,14506254,12950454,12898275,12890621,12578975,12477932,12408226,11994293 70006,1302517 6506 NM_004171,AC090625,AF510107,AL133330,CH471064,AB209444,AF131756,AK054855,AK057674,AK090810,AK122843,AL157452,AY066021,BC031313,BC047052,BC132768,BX538155,BX648750,CR626999,CR627009,CR627022,CR749842,D85884,DA158200,DB465494,U01824,U03505,Z32517 NP_004162,EAW68141,EAW68142,EAW68143,BAD92681,AAL57716,AAI32769,BAA28706,AAA18900,AAA50429,CAA83532,P43004,Q4VXL9,Q541G6,Q59FL6,Q7L8K5 Hs.502338 GDB:371479 EAAT2|GLT-1 solute carrier family 1, member 2 protein-coding 732126 SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 Glutamate and aspartate are excitatory neurotransmitters that have been implicated in a number of pathologic states of the nervous system. Accumulation of extracellular excitatory amino acids can be cytotoxic and may also lower the seizure threshold in epilepsy. EAAT1 (SLC1A3) is a member of a family of high-affinity sodium-dependent transporter molecules that regulate neurotransmitter concentrations at the excitatory glutamatergic synapses of the mammalian central nervous system (Kirschner et al., 1994 [PubMed 8001975]).[supplied by OMIM] 1580863 16877378,16516348,16116111,16061389,16042756,15950021,15718040,15535133,15135231,14749132,14713304,12957496,12911626,12769187,12477932,11826152,11792462,11752470,10915646,10864655,10594060,10570036,10519046,7521911,8647279,18454440,18081024,17676873,17627080,17581948,17316900,17221839,9110174,8619474,8218410,8123008,8001975,7859077,7698014,7584044 6507 AC008957,AC010631,CH471119,Z31713,AF070609,AK057823,AY954110,BC022285,BC037310,BC054475,CR601776,D26443,DC320625,L19158,U03504,NM_004172 NP_004163,EAW55945,EAW55946,CAA83507,AAY28724,AAH37310,AAH54475,BAA05462,AAA50428,P43003,Q4JCQ8,Q7Z5T0,Q8N169 Hs.481918 GDB:371499 EA6|EAAT1|FLJ25094|GLAST|GLAST1 solute carrier family 1, member 3 protein-coding 1345199 SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 1580863 8910405,18442140,17106422,17081065,15815621,15489334,12584318,12477932,12050356,11824937,11268453,10933718,9373149,8603078,8340364,8125298,8101838,7896285 6509 NM_003038,AC007386,CH471053,U05235,AB026689,AK126636,AK223486,BC007350,BC026216,BC072423,CR621750,CR625932,L14595,L19444 NP_003029,AAF03519,EAW99932,EAW99933,AAC51349,BAA94861,BAD97206,AAH26216,AAH72423,AAA02761,AAA19438,P43007,Q53F03,Q9P2X2,ABM82053,ABM85232 Hs.654352 GDB:216110 ASCT1|SATT protein-coding 1347799 SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 1580863 10051606,17353931,8702519,17676482,17329400,17081983,17081065,16820059,16516348,16435221,16197915,15848195,15845389,15489334,14702039,14520239,12757936,12584318,12555937,12477932,12175968,12050356,11350958,10196349 6510 NM_005628,AC008622,CH471126,AB209738,AF102826,AF105230,AF105423,AF334818,AK055630,AK125222,AK292690,BC000062,CR618074,U53347 NP_005619,EAW57446,EAW57447,BAD92975,AAD09812,AAD09814,AAD27806,AAK77026,BAF85379,AAH00062,AAC50629,Q15758,Q59ES3,Q71UA6,Q96CD3,Q9BVQ6,ABM83074,ABM86271 Hs.631582 GDB:386068 AAAT|ASCT2|ATBO|FLJ31068|M7V1|M7VS1|R16|RDRC protein-coding 732902 SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 1580863 7791878,17442044,17360917,17221839,15057824,12477932,11432999,11242047 6511 NM_005071,AC004659,CH471106,AB209199,BC028721,BC040604,U18244 NP_005062,AAC15754,EAW84456,EAW84457,BAD92436,AAH28721,AAH40604,AAA75314,P48664,Q59GB0,Q8N753 Hs.515217 GDB:5560448 EAAT4|MGC33092|MGC43671 protein-coding 1323639 SLC1A7 solute carrier family 1 (glutamate transporter), member 7 1580863 9108121,15737648,14702039,12477932 6512 BC000651,BC012119,BC017242,NM_006671,AL445183,CH471059,AK093921,U76362 AAH00651,AAH12119,NP_006662,CAH72594,CAH72595,EAX06754,EAX06755,AAH17242,AAB53971,O00341,Q5VVZ0,Q969Z8,Q9BW45,ABM83225,ABM86424 Hs.104637 GDB:4642998 AAAT|EAAT5|FLJ36602 protein-coding 1349725 SLC20A1 solute carrier family 20 (phosphate transporter), member 1 Retrovirus receptors allow infection of human and murine cells by various retroviruses. The receptors that have been identified at the molecular level include CD4 (MIM 186940) for human immunodeficiency virus, Rec1 for murine ecotropic virus, and GLVR1 for gibbon ape leukemia virus (see MIM 182090). These 3 proteins show no homology to one another at the DNA or protein level. GLVR1 is a sodium-dependent phosphate symporter.[supplied by OMIM] 8041748,12761501,18095154,17494632,17339538,16790504,16527991,15815621,15641067,15489334,12477932,12205090,12097582,11009570,9889306,9528951,8411375,7966619,7929240,2078500,1672162,1531369,1309898 6574 NM_005415,AC079922,AF102059,AF102060,AF102061,AF102062,AF102063,CH471217,EU043383,AK123420,BC019944,BC075818,BX647555,CR610552,CR619726,L20859 NP_005406,AAY14922,AAD20286,EAW73597,EAW73598,EAW73599,ABS82764,AAH19944,AAH75818,AAA52572,Q8WUM9,ABM84488,ABM85164 Hs.187946 GDB:125248 DKFZp686J2397|FLJ41426|GLVR1|Glvr-1|PIT1|PiT-1 protein-coding 1352627 SLC20A1P1 solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 9841928 326274 NG_002534,AB019437 pseudo 733735 SLC20A2 solute carrier family 20 (phosphate transporter), member 2 1580863 8302848,17494632,16790504,15955065,15308749,12477932,12205090,11932396,7745689,1656098 6575 NM_006749,AC090739,AC093367,AC107885,CH471080,AK291202,BC028600,L20852 NP_006740,EAW63213,EAW63214,EAW63215,BAF83891,AAH28600,AAA18018,Q08357,ABM82464,ABM85653 Hs.653173 GDB:140315 GLVR2|Glvr-2|MLVAR|PIT-2 solute carrier family 20, member 2 protein-coding 736350 SLC21A1 solute carrier family 21, member 1 1598620,625763 1598620,625763 6577 732626 SLC22A1 solute carrier family 22 (organic cation transporter), member 1 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. 17971819,17701831,17635184,17476361,17220237,17111267,16141367,15817714,15499200,15389554,15135235,14697261,12719534,12672812,12439218,12439217,11752456,11543633,11447227,11388889,11136971,10541551,9933568,9605850,9260930,9187257,9078256,8902060,7690421,1727476 6580 NM_003057,NM_153187,AJ243995,AL353625,CH471051,AK289887,AV684761,BC126364,U77086,X98332 NP_003048,NP_694857,CAB95971,CAH72016,EAW47603,EAW47605,EAW47606,BAF82576,AAI26365,AAB67703,CAA66977,O15245,EAW47604 Hs.117367 GDB:9806341 HOCT1|OCT1|oct1_cds protein-coding 1602951 SLC22A10 solute carrier family 22, member 10 16554811,12372408,11327718 387775 NM_001039752,AP001880,AB075876,BK001421,BX091233,CB162810,DR003989 NP_001034841,BAD38658,DAA01503,Q63ZE4,Q68CJ0,AAI60176 Hs.188982 GDB:11507827 OAT5|hOAT5 protein-coding 1353940 SLC22A11 solute carrier family 22 (organic anion/urate transporter), member 11 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. 1580863 10660625,18414001,17602283,17229912,16554811,15576633,15489334,15291761,15102942,14702039,12477932,12024214,12023506,11909604,11907186,11855680,11327718,9373149,8125298 55867 NM_018484,AC044790,AP001092,AP006288,CH471076,AB026116,AK075127,AK075224,AK129930,AK222869,AK290791,BC034384,CR598571,CR605725,CR608154 NP_060954,AAK68155,EAW74269,EAW74270,BAA95316,BAC11419,BAC11483,BAC85252,BAD96589,BAF83480,AAH34384,Q8NBZ3,Q9NSA0,ABW03648,ABW03305 Hs.220844 GDB:11507829 MGC34282|OAT4|hOAT4 protein-coding 1323543 SLC22A12 solute carrier family 22 (organic anion/urate transporter), member 12 The protein encoded by this gene is a urate transporter and urate-anion exchanger which regulates the level of urate in the blood. This protein is an integral membrane protein primarily found in kidney. Two transcript variants encoding different isoforms have been found for this gene. 1599244,1599245,1580863 15304510,12024214,15772301,16775029,14694169,17891652,17567994,17445045,16920156,16837472,16385546,16059895,15772829,15338274,15327384,14702039,14531806,12975309,12477932 1599244,1599245 116085 NM_144585,NM_153378,AC044790,AP001092,CH471076,DQ514593,DQ514594,DQ514595,DQ514596,AB050269,AB071863,AK055737,AK122599,AY358183,BC026291,BC053348,DQ655912 NP_653186,NP_700357,AAK68156,EAW74271,EAW74272,EAW74273,EAW74274,EAW74275,EAW74276,ABF74570,ABF74571,ABF74572,ABF74573,BAB68364,BAB96750,AAQ88550,AAH26291,AAH53348,Q05CF4,Q96S37 Hs.174424 GDB:11510215 OAT4L|RST|URAT1 protein-coding 1315683 SLC22A13 solute carrier family 22, member 13 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. 1580863 10072596,16344560,15489334,12477932,10231028,10213508 9390 NM_004256,AB026898,AP000499,AP006193,CH471055,AB010438,BC035973,DA629093 NP_004247,BAA77625,EAW64526,EAW64527,EAW64528,BAA76350,AAH35973,Q9Y226 Hs.225941 OCTL1|OCTL3|ORCTL3 protein-coding 1315106 SLC22A14 solute carrier family 22, member 14 This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. 1580863 10072596,15489334,12477932,10231028,10213508 9389 NM_004803,AB026898,AP006193,CH471055,AB011082,BC075070,BC075071,BC126482,BC130543 NP_004794,BAA77626,EAW64529,BAA76351,AAH75070,AAH75071,AAI26483,AAI30544,A0AVS9,Q9Y267 Hs.165559 MGC163415|OCTL2|OCTL4|ORCTL4 protein-coding 1322509 SLC22A15 solute carrier family 22, member 15 Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM] 1580863 12975309,12477932,12372408 55356 NM_018420,AL357137,AL365318,CH471122,AK125072,AL353933,AY145501,AY358258,BC026358,BC030090,BC070033 NP_060890,EAW56640,EAW56641,CAB89246,AAN52927,AAQ88625,AAH26358,Q6UXP5,Q8IZD6,Q9NSH5,ABM83293,ABM86502 Hs.125482 DKFZp761G0313|FLIPT1|PRO34686 protein-coding 1344136 SLC22A16 solute carrier family 22 (organic cation/carnitine transporter), member 16 Organic ion transporters, such as SLC22A16, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM] 17581421,17559346,17473959,17197897,15963465,14702039,12477932,12384147,12372408,12089149 85413 AK057306,AY145502,NM_033125,AC002464,AL050350,CH471051,AB055798,AF268892,BC012014,BC037247,BC047565 AAK58593,BAB71419,NP_149116,AAB67044,CAI42512,CAI42514,EAW48313,EAW48314,EAW48315,BAC23062,AAN52928,AAH12014,AAH47565,Q86VW1,Q96ER0 Hs.520319 CT2|FLIPT2|OCT6|OKB1|dJ261K5.1 protein-coding 1348088 SLC22A17 solute carrier family 22, member 17 1580863 17253959,16377569,15489334,12477932 51310 NM_020372,NM_016609,AJ243122,AL049829,CH471078,AJ243653,BC020565,BC030559,BC090870,BC111015,BX161416,BX647316,CR590139,CR607061,DQ658848 NP_065105,NP_057693,CAC17762,EAW66165,EAW66166,CAC01119,AAH20565,AAH90870,AAI11016,CAD61891,ABG45942,Q2TAB0,Q5BKY8,Q8WUG5 Hs.373498 BOCT|BOIT|NGALR|hBOIT solute carrier family 22 (organic cation transporter), member 17 protein-coding 1350768 SLC22A18 solute carrier family 22, member 18 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region as well as the transport of chloroquine- and quinidine-related compounds in the kidney. Two alternative transcripts encoding the same isoform have been described. 9499412,9744804,16624517,16314844,15489334,15342556,12477932,11925925,11076855,9802569,9751628,9570947,9520460 5002 NM_183233,NM_002555,AC013791,AF313150,CH471158,AB012083,AF028738,AF030302,AF037064,AF059663,AF070479,AL832892,BC015571,BG489795,BG684685,BM561526,BP350681,CR611681 NP_899056,NP_002546,EAX02528,EAX02529,EAX02530,BAA32779,AAB82727,AAC17492,AAC04787,AAC14725,AAC23505,CAH10416,AAH15571,Q69YM4,Q96BI1,ABW03589 Hs.50868 BWR1A|BWSCR1A|DKFZp667A184|HET|IMPT1|ITM|ORCTL2|SLC22A1L|TSSC5|p45-BWR1A protein-coding 1352553 SLC22A18AS solute carrier family 22 (organic cation transporter), member 18 antisense 15489334,15175115,12477932,9570947,9520460 5003 Q8N1D0 NM_007105,AC013791,CH471158,AF035407,AF037066,BC030237 NP_009036,EAX02526,EAX02527,AAC17497,AAC04789,AAH30237,Q8N1D0 Hs.300076 GDB:9848658 BWR1B|BWSCR1B|ORCTL2S|SLC22A1LS|p27-BWR1B protein-coding 1342518 SLC22A2 solute carrier family 22 (organic cation transporter), member 2 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. 1580863 16024787,9260930,17971819,17495125,17393420,17220237,17111267,17060063,16990275,16951202,16513443,16368738,16314463,16141367,15817714,15499192,15135235,12538837,12477932,12388397,12142729,12089365,11953440,11483518,11447227,10942111,9933568,9687576,9605850,9078256,8902060,7690421,1727476 6582 NM_003058,AJ251885,AL162582,CH471051,AB075951,AK290787,BC030978,BC039899,CR618035,X98333 NP_003049,CAB96133,CAI20003,CAI20004,EAW47601,EAW47602,BAC02720,BAF83476,AAH30978,AAH39899,CAA66978,O15244,Q5T7Q5 Hs.436385 GDB:9806342 MGC32628|OCT2 protein-coding 1602395 SLC22A20 solute carrier family 22, member 20 SLC22A20 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM] 17714910,16478971,15869325,15369770 440044 NM_001004326,AP000828,AP003068,CH471076,DQ053017,AK131327,DN831899 NP_001004326,EAW74372,BAD18487,A6NK97 Hs.532372 FLJ16331|Oat6 protein-coding 1604659 SLC22A20 solute carrier family 22, member 20 15869325 100008563 DQ053017 FLJ16331|Oat6 protein-coding 1347503 SLC22A23 solute carrier family 22, member 23 SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM] 17714910,12477932,9373149,8125298 63027 AL160398,AK000691,NM_021945,NM_015482,AL445309,CH471087,AJ420525,AK025827,AK172770,AK225936,AK308943,AL110245,AL512737,BC022217,BC038748,BC040876,BC128580,BC128581,AK025033 Q9UFY2,NP_068764,NP_056297,CAI12303,CAI12304,CAI40959,CAI40960,CAI40961,EAW55132,EAW55133,EAW55134,EAW55135,BAB15054,BAB15250,BAD18753,CAB53695,AAH22217,AAH40876,AAI28581,AAI28582,A1A5C7,Q5JS57,Q7L9D0 Hs.700628 C6orf85|DKFZP434F011|FLJ22174 chromosome 6 open reading frame 85 protein-coding 1603866 SLC22A24 solute carrier family 22, member 24 SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM] 17714910,16189514,12477932 283238 XM_001720420,XM_001720378,XM_001720395,AP001858,BC034394 XP_001720472,XP_001720430,XP_001720447,AAH34394,Q8N4F4,ABM81754,ABM84909 Hs.375139 MGC34821 hypothetical protein mgc34821 protein-coding 1606386 SLC22A25 solute carrier family 22, member 25 17714910,15054140,14702039,12477932 387601 NM_199352,AP001880,AP003420,CH471076,AK091990,AK127610,AY437532,AY517500,BC101314,BC101315,BC101316,BC101317 NP_955384,EAW74138,EAW74139,EAW74140,EAW74141,EAW74142,EAW74143,BAC03786,BAC87056,AAR84082,AAS76641,AAI01316,AAI01317,AAI01318,Q494Y1,Q6T423,Q6ZS98,Q8NAW1 Hs.332119 HIMTP|MGC120420|UST6 protein-coding 1351828 SLC22A3 solute carrier family 22 (extraneuronal monoamine transporter), member 3 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. 70010,1580863 10966924,9933568,18253050,17393420,17010131,16024787,15135235,14702039,14690517,12768439,12538837,12110607,11770002,11682442,11129104,10942111,10196521,9830022,9632645,16141367 70010 6581 NM_021977,AJ251884,AJ403946,AL355506,AL591069,CH471051,AF078749,AJ001417,AK096980,CR619195 NP_068812,CAB96132,CAC39443,CAI20340,CAI16539,EAW47599,AAD20977,CAA04751,O75751,Q5SYN6,Q96KH7,Q9NQC0,AAI56539 Hs.567337 GDB:9863274 EMT|EMTH|OCT3 protein-coding 733281 SLC22A4 solute carrier family 22 (organic cation/ergothioneine transporter), member 4 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. 16729965,9426230,18466472,18433468,18338763,18328148,18274826,18162085,18087673,18064451,17786191,17700366,17609685,17609683,17509030,17476680,17451203,17387389,17340776,17213842,17100974,17006998,16835882,16821265,16796743,16773684,16771961,16670523,16652416,16519819,16519742,16469794,16441470,16437728,16373276,16361305,16344054,16344053,16333318,16255050,16249223,16246312,15955786,15883854,15832501,15795384,15751072,15693005,15685536,15489334,15459889,15184985,15107849,14608356,14531806,12788076,12504088,12477932,12436193,12388627,10215651,9808712,9703985 6583 NM_003059,AC008599,AC034220,CH471062,CS240059,AB007448,AK127997,BC028313,CR605004,Y09881 NP_003050,EAW62340,CAJ56219,BAA23356,BAC87222,AAH28313,CAA71007,Q6ZRT7,Q8N6F0,Q9H015,ABM81742,ABM84898 Hs.310591,Hs.640104 GDB:9863275 MGC34546|MGC40524|OCTN1 organic cation transporter octn1 protein-coding 733710 SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. 1580608,1580609,1580610,1580611,1580863,1624241 16344560,16344054,16344053,16333318,16255050,15955786,15714519,15685536,15647998,15523054,15499185,15489334,15487009,15486076,15303004,15238359,15107849,14702039,14684825,14665638,14506273,12802501,12684216,12477932,12408185,12183691,10679939,10612840,9685390,9916797,18433468,18338763,18337137,18274826,18162085,18005709,17977516,17786191,17725851,17703373,17509700,17509030,17476680,17451203,17417720,17387389,17340776,17274673,17213842,17100974,17006998,16931768,16835882,16796743,16773684,16771961,16670523,16652416,16519742,16490820,16469794,16441470,16437728,16373276,16361305,10559218,10545605,10480371,10454528,10425211,10072434,9634512,9618255,3974805 1580608,1580609,1580610,1580611,1624241 6584 NM_003060,AB016625,AC004628,AC118464,CH471062,AB015050,AB209484,AB291606,AF057164,AK128610,AY429569,BC012325,DA186237,DA567722 NP_003051,BAA36712,EAW62337,EAW62338,EAW62339,BAA29023,BAD92721,BAF45812,AAC24828,BAC87527,AAH12325,O76082,Q59FH6,ABM84597,ABM86744 Hs.705425 GDB:9863277 CDSP|FLJ46769|OCTN2|OCTN2VT solute carrier family 22, member 5 protein-coding 619572 SLC22A6 solute carrier family 22 (organic anion transporter), member 6 The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. 1580863,68822 9950961,17585018,17502342,17353191,17344191,17038320,16920720,16648942,16189514,16164645,16046403,16024787,15914676,15864112,15284288,15200431,15145940,15039295,14984259,14749323,14702039,14644751,12874449,12477932,12472777,12429554,11855680,10964714,10462545,10049739,9887087,9762842 68822 9356 NM_004790,NM_153278,NM_153276,NM_153277,AJ249369,AP001858,CH471076,EU567146,AB009697,AB009698,AF057039,AF097490,AF104038,AF124373,AJ251529,AJ271205,AK055764,AK091879,BC033682 NP_004781,NP_695010,NP_695008,NP_695009,CAB77184,EAW74129,EAW74130,EAW74131,EAW74132,ACB21049,BAA75072,BAA75073,AAC70004,AAD19356,AAD10052,AAD55356,CAB94830,CAB97249,AAH33682,Q4U2R8,ABM83006,ABM86199 Hs.369252 GDB:9956053 HOAT1|MGC45260|OAT1|PAHT|ROAT1 solute carrier family 22, member 6 protein-coding 732686 SLC22A7 solute carrier family 22 (organic anion transporter), member 7 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. 70525,1580863 9650585,18216183,16344560,12477932,12023506,11907186,11855680,11327718,10773670 70525 10864 NM_153320,NM_006672,AL583834,CH471081,EU562669,AA705161,AF097518,AF210455,AI928177,AK290796,AK290806,AY050498,BC017963,BC033805,DA640137 NP_696961,NP_006663,CAI14461,CAI14462,CAI14463,CAI14464,CAI14465,CAI14466,EAX04171,EAX04172,EAX04173,EAX04174,EAX04175,EAX04176,ACB21045,AAD37091,AAG43523,BAF83485,BAF83495,AAL12496,AAH17963,AAH33805,Q5T047,Q5T051,Q8WWC3,Q9Y694,ABM84540,ABM87843 Hs.485438 GDB:9958421 MGC24091|MGC45202|NLT|OAT2 protein-coding 732952 SLC22A8 solute carrier family 22 (organic anion transporter), member 8 The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. 1580863 10049739,17585018,17578901,17556638,17502342,16793932,16648942,16455804,16291576,15846473,15644426,15489334,14984259,14586168,12811365,12477932,11912245,11855680 9376 NM_004254,AP001858,CH471076,AB042505,AB209692,AF097491,BC022387 NP_004245,EAW74133,EAW74134,EAW74135,BAB47393,BAD92929,AAD19357,AAH22387,Q8TCC7,ABM82943,ABM86133 Hs.266223 GDB:9956121 MGC24086|OAT3 solute carrier family 22 ,member 8 protein-coding 1343950 SLC22A9 solute carrier family 22 (organic anion transporter), member 9 1580863 17393504,17341544,15489334,15037815,14702039,12477932,12409283,11327718,10660625 114571 BC126288,NM_080866,AP000484,AP001880,CH471076,AB062418,AB074812,AF440402,AJ295270,AK074246,BC022379 AAH22379,AAI26289,Q8IVM8,Q8TCC8,NP_543142,EAW74146,EAW74147,EAW74148,BAB83517,BAF51552,AAP97316,CAC82910,BAB85030 Hs.502772 GDB:11507831 FLJ23666|HOAT4|OAT4|OAT7|UST3H|ust3 protein-coding 1342862 SLC23A1 solute carrier family 23 (nucleobase transporters), member 1 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. 634186,1580863 10395795,9804989,17664139,17008880,16357110,15993839,15489334,15084584,14702039,12477932,12388072,12381735,11984580,11584081,11396616,10631088,10556521,10556483,10471399,10331392 634186 9963 NM_152685,NM_005847,AC135457,AF375875,CH471062,AF058317,AF098277,AF170911,AJ250807,AJ269477,AK092655,AK290789,BC019225,BC050261 NP_689898,NP_005838,AAK97398,EAW62106,AAC78804,AAF22490,AAF24759,CAC15384,CAB58119,BAF83478,AAH19225,Q9UHI7,AAH50261 Hs.643467 GDB:9958527 MGC22361|SLC23A2|SVCT1|YSPL3 protein-coding 1353786 SLC23A2 solute carrier family 23 (nucleobase transporters), member 2 The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. 634186,1580613,1580863 9804989,10471399,10556521,17664139,17291984,17092984,17012227,16380174,16357110,15993839,15921655,15489334,15340249,15060139,14993613,12477932,12168954,11984580,11780052,11396616,10915794,10748165,10395795,10331392,9039502 634186,1580613 9962 NM_203327,NM_005116,AL109841,AL121890,AL389886,CH471133,AB075494,AF058319,AF092511,AF164142,AI742576,AJ269478,AJ292318,AY380556,BC013112,BC073895,D87075,DQ011866,EF032501 NP_976072,NP_005107,CAC16126,CAI42480,EAX10438,EAX10439,EAX10440,EAX10441,EAX10442,AAC78806,AAD11783,AAF80493,CAB58120,CAC83100,AAQ79775,AAH13112,BAA13244,AAY26157,ABK34450,Q4ZGM1,Q5JSP2,Q5JSP3,Q9UGH3 Hs.516866 GDB:9785326 KIAA0238|NBTL1|SLC23A1|SVCT2|YSPL2 protein-coding 1345783 SLC23A3 solute carrier family 23 (nucleobase transporters), member 3 1580863 14702039,12477932,7588067 151295 NM_144712,NG_007880,AC068946,CH471063,AK055730,BC030243,DQ294736,DQ294737 NP_653313,EAW70682,BAB70999,AAH30243,ABC17635,ABC17636,Q2PYN5,Q6PIS1,Q6ZV11,ABM81945,ABM85125 Hs.124565,Hs.704123 E2BP3|FLJ31168|SVCT3|Yspl1 protein-coding 1342925 SLC23A4 solute carrier family 23 (nucleobase transporters), member 4 641842 NG_006548,AC009542,CH236950 pseudo 736859 SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 SLC24A1 belongs to a family of potassium-dependent sodium/calcium exchangers. Members of this family have 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments (Schnetkamp, 2004 [PubMed 14770312]).[supplied by OMIM] 1580863 9478004,7539424,9856482,14770312,12693957,12600216,12477932,10662833,10608890,9734811 9187 NM_004727,AC011939,AC027220,CH471082,AB014602,AF026132,AF062921,AF062922,BC012630,BC029407,BC117263 NP_004718,EAW77739,EAW77740,EAW77741,BAA31677,AAB97832,AAC16732,AAC77912,AAI17264,O60721,Q17RM9 Hs.173092 GDB:9955195 HsT17412|KIAA0702|NCKX|NCKX1|RODX sodium/calcium/potassium exchanger protein-coding 730928 SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 The outer segment of retinal rod and cone photoreceptors contains electrogenic sodium-calcium exchangers which mediate a light-induced decrease in free calcium concentration. This function in cones is performed by SLC24A2 (Prinsen et al., 2000 [PubMed 10662833]).[supplied by OMIM] 1580863 17164249,17038313,15909993,15611132,15583008,15489334,15196038,15164053,12525183,12502543,12477932,10662833 25769 NM_020344,AL133281,AL158077,AL158206,CH471071,AF097366,AF177987,BC069622 NP_065077,EAW58633,AAF21810,AAF25811,AAH69622,Q9UI40 Hs.283014 GDB:10450540 NCKX2 protein-coding 735914 SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM] 1580863 11780052,11294880 57419 NM_020689,AL034425,AL049647,AL121761,AL121830,AL136090,AL139429,AL139827,CH471133,AF169257,AF288087 NP_065740,EAX10219,EAX10220,AAG12988,Q9H417,Q9HC58,AAI41433 Hs.654790 GDB:10796832 NCKX3 protein-coding 1314247 SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 Potassium-dependent sodium/calcium exchangers, such as NCKX4, are thought to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Li et al., 2002 [PubMed 12379639]).[supplied by OMIM] 18483556,17952075,15489334,14702039,12477932,12379639 123041 NM_153648,NM_153646,NM_153647,AL118559,CH471061,AF520704,AF520705,AF520706,AK096171,AL834225,BC037863,BC069653,BX648995 NP_705934,NP_705932,NP_705933,EAW81485,EAW81486,EAW81487,EAW81488,EAW81489,AAM76070,AAM76071,AAM76072,BAC04715,CAD38903,AAH37863,AAH69653,Q49AH1,Q8NFF2 Hs.510281 GDB:10796885 FLJ38852|NCKX4|SHEP6|SLC24A2 protein-coding 1321543 SLC24A5 solute carrier family 24, member 5 This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. 18166528,17999355,17952075,17081065,16847698,16357253,15489334,14625281,12477932 283652 NM_205850,AC090526,CH471082,AF348468,BC073944,BC113628,BC113630,DQ665306,DQ665307 NP_995322,EAW77335,AAQ15116,AAH73944,AAI13629,AAI13631,ABG66958,ABG66959,Q71RS6 Hs.699810 JSX|NCKX5|SHEP4 protein-coding 1349643 SLC24A6 solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM] 15489334,15060069,14702039,14625281,12477932,8889548 80024 NM_024959,AC010178,CH471054,AK025886,AK056179,AK094074,AK095092,AK124000,AY601759,AY601760,BC020463,BC032397,BC033070,BC098360,BC098430,BM560555,BM980568,CA309108 NP_079235,EAW98048,EAW98049,EAW98050,EAW98051,BAB15271,BAC85748,AAT35807,AAT35808,AAH98360,Q6J4K2,Q6ZVW2 Hs.286194 FLJ22233|NCKX6|NCLX protein-coding 1343333 SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 1580863 8666394,17353931,15489334,12477932,9254007,8776594,8660975,16189514 6576 NM_005984,AC004463,CH471176,L76134,X96924,AK292313,BC004980,BC008061,BC018590,CR590532,CR599048,CR603634,CR606422,CR606950,CR607685,CR622978,CR625389,L75823,L77567,U25147 NP_005975,EAX03048,EAX03049,EAX03050,EAX03051,AAL40091,CAA65633,BAF85002,AAH04980,AAH08061,AAL40090,AAB08515,P53007,Q6LAP8,ABM83842,ABM87164,ABM87169 Hs.111024 GDB:3750462 CTP|SLC20A3 protein-coding 1350550 SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 The dicarboxylate carrier catalyzes the transport of dicarboxylates such as malate and succinate across the mitochondrial membrane in exchange for phosphate, sulfate, and thiosulfate, thus supplying substrates for the Krebs cycle, gluconeogenesis, urea synthesis, and sulfur metabolism.[supplied by OMIM] 634162,1580863 9733776,16303743,16189514,16043481,16027120,15489334,12477932,10585886,10072589,15117959 634162 1468 NM_012140,AC139530,AJ131612,CH471099,CQ783360,AJ131613,AK075249,BC007355,BC015797 ABM87591,NP_036272,CAB60007,EAW89681,EAW89682,CAF86566,CAB59892,BAC11497,AAH07355,AAH15797,Q542Z3,Q9UBX3,ABM84189 Hs.548187 GDB:9862909 DIC protein-coding 732504 SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 1580863 8769314,8619474,8597574,16189514,1457818,16920706,15489334,12939596,12477932,10072597,9639574,9110174 8402 NM_003562,AC109333,CH471108,X66114,AF070548,AK290376,BC006508,BC006519,BC016294,BC016473,BC017170,CR456834,CR590793,CR590943,CR591200,CR591304,CR595953,CR598517,CR600572,CR603391,CR606322,CR609603,CR613107,CR613184,CR615026,CR616117,CR617034,CR617848,CR620583,CR625483,CR625556 NP_003553,EAW90389,EAW90390,EAW90391,EAW90392,CAA46905,AAC28637,BAF83065,AAH06508,AAH06519,AAH16294,AAH17170,CAG33115,Q02978,Q6IBH0,ABM82078,ABM85257 Hs.706792 GDB:9865057 OGC|SLC20A4 2-oxoglutarate carrier protein-coding 1313056 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 1358576,1580863 11566871,9722566,18348195,17894412,17693006,17151801,16648338,16263864,16205742,15494407,15056512,14702039,12477932,10965105,10702666,10369257,17353931 1358576 8604 NM_003705,AC068039,CH471058,AJ496568,AK022828,AK054941,AK091071,BC016932,Y14494 NP_003696,AAY24134,EAX11196,EAX11197,CAD43090,AAH16932,CAA74834,O75746,Q96AM8,ABM82466,ABW03408 Hs.470608 GDB:9956012 ARALAR|ARALAR1 protein-coding 1323000 SLC25A13 solute carrier family 25, member 13 (citrin) 1599241,1599242,1580863 11566871,10642534,12851387,18273444,17092749,17000460,16928234,16344560,16278034,16059747,15489334,12853948,12477932,12424587,12111366,11793471,11432966,11343052,11281457,11153906,10610724,10369257,9373149,8125298 1599241,1599242 10165 NM_014251,AC002450,AC002540,AC004458,AC084368,AC096775,AF164530,CH236949,CH471091,AF118838,AJ496569,AK000766,AK025227,AK025779,AK222864,BC006566,CR606013,DA118296,Y17571 NP_055066,AAB67049,AAB70112,AAS07513,AAS07527,AAF28473,EAW76748,EAW76749,AAD38501,CAD43091,BAD96584,AAH06566,CAB62206,Q53GR7,Q546F9,Q75KX8,Q75M55,Q9UJS0,ABM83777,ABM87097 Hs.489190 GDB:9955340 ARALAR2|CITRIN|CTLN2 protein-coding 736693 SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. The gene product has an N-terminal hydrophobic domain that is not present in other UCPs. Two splice variants have been found for this gene. 1580863 9852133,18018477,17066476,16941493,15772651,15489334,12975309,12477932,12051969,11701769,10928996,10772343,10620491 9016 NM_003951,NM_022810,AL035423,CH471107,AF078544,AF155809,AF155810,AF155811,AY358099,BC119666,BC119667,CR606300,CR609375,CR611993 NP_003942,NP_073721,CAB41251,CAI42439,CAI42440,CAI42441,EAX11801,EAX11802,EAX11803,EAX11804,AAD04346,AAG29582,AAG29583,AAG29584,AAQ88466,AAI19667,AAI19668,O95258,Q5JY88 Hs.194686 GDB:9954769 BMCP1|MGC149543|UCP5 protein-coding 1322973 SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 1599239,1599240,1580863 10369256,17825324,17672918,16376511,16256388,15498874,15489334,14759633,12807890,12477932,11814739,11668643,11552031,11355015,10805333 1599239,1599240 10166 NM_014252,AJ309943,AL161614,CH471075,AF112968,AF177333,AL538057,BC002702 NP_055067,CAC83972,CAH72773,CAH72774,EAX08630,AAD45238,AAG17977,AAH02702,Q5VZD8,Q5VZD9,Q5VZE0,Q9Y619,ABM83930,ABM87249 Hs.646645 GDB:120042 D13S327|HHH|ORC1|ORNT1 protein-coding 1348384 SLC25A15P solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 Y-linked pseudogene 12815422 246130 NG_002817,AC019099 GDB:11507833 pseudo 1322697 SLC25A16 solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. 1580863 2575220,14702039,12477932,11158296,8444471,1457817 8034 NM_152707,AL136233,AL713888,CH471083,AK123772,AK290255,BC001407,BC030266,BE280946,BU618210,CR607953,CR609697,M31659 NP_689920,CAI15116,EAW54298,BAF82944,AAH01407,AAH30266,AAA36329,P16260,Q8N2U1,Q9BV83,ABM82636,ABM85813 Hs.180408 GDB:9954455 D10S105E|GDA|GDC|HGT.1|MGC39851|ML7|hML7 protein-coding 1322988 SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 SLC25A17 is a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers.[supplied by OMIM] 1580863 10704444,9874197,15489334,15461802,14709540,14702039,12477932,12445829,11402059,11121399,10591208,8889548,16189514 10478 NM_006358,AL049764,CH471095,CQ871242,Z98048,AK094062,AK292924,BC005957,BC012998,BC024741,BC039064,BU595416,BU686766,BX647991,CR456577,CR598344,CR607643,CR610082,CR612075,CR624010,Y12860 NP_006349,CAI20333,EAW60389,EAW60390,EAW60391,EAW60392,EAW60393,CAH56802,BAF85613,AAH05957,AAH12998,CAG30463,CAA73367,O43808,CAK54609,CAK54908,ABM84064,ABM87421 Hs.474938 GDB:9957110 PMP34 protein-coding 1350192 SLC25A18 solute carrier family 25 (mitochondrial carrier), member 18 1580863 15489334,15461802,14702039,12477932,11897791,11566871,11381032 83733 NM_031481,AC004019,CH471193,AJ428203,AK095706,AY008285,BC016954,BC031644,CR456578 NP_113669,EAW57760,EAW57761,CAD21008,AAG22855,AAH31644,CAG30464,Q9H1K4,CAK54610,CAK54909,ABM84586,ABM86585 Hs.282982,Hs.629929 GDB:10796077 GC2 protein-coding 1343771 SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. 1624242,1580863 11226231,18280798,17035501,16344560,16303743,15539640,15489334,14702039,12477932,12185364,11474176,9373149,8889548,8125298 1624242 60386 NM_021734,NM_001126121,NM_001126122,AC022211,AJ301616,CH471099,CQ783884,AA743427,AF182404,AJ251857,AK075239,AK097882,AK225881,AL833387,AY346372,BC001075,BC005120,BC021162,BM455504,BU177306,BU607955,CR590620,CR619889,CR623625,CR624640,CR626101,DA605220,DB482052 NP_068380,NP_001119593,NP_001119594,CAC37793,EAW89267,EAW89268,EAW89269,CAF86907,AAG16903,CAC27560,BAC11492,CAI46136,AAQ54327,AAH01075,AAH05120,Q5JPC1,Q6V9R7,Q8NBT6,Q9HC21,ABM83686,ABM86983 Hs.514470 GDB:11504439 DNC|MCPHA|MUP1|TPC solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 protein-coding 1347291 SLC25A2 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 Located between the protocadherin beta and gamma gene clusters on chromosome 5, this intronless gene encodes a protein that is highly similar to an ornithine transporter localized in the mitochondrial inner membrane. The encoded protein most likely plays a role in metabolism as a mitochondrial transport protein. 1580863 12948741,12807890,12477932,11230163,11004451,10716726,10380929 83884 NM_031947,NG_000012,AC005618,CH471062,AF332005,AF378119,AY208943,BC069458,BC100935,BC100936,BC100937 NP_114153,EAW61967,AAK26320,AAM94902,AAO31753,AAH69458,AAI00936,AAI00937,AAI00938,Q496C1,Q6XUI0,Q9BXI2 Hs.97647 MGC119151|MGC119153|ORC2|ORNT2 protein-coding 732535 SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 The protein encoded by this gene is located at the mitochondrial inner membrane where it transfers fatty acylcarnitines into mitochondria. Thus it is critical in the fatty acid oxidation process. A defect in this translocase impairs oxidation of fatty acids and can cause a varieties of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness. 1580863 9399886,11257506,16054041,17508264,15515015,15489334,15365988,15057979,12859414,12477932,11592821,10697964,10384384,9837782,9733094,9686371,9533014,1598097 788 NM_000387,AC134028,CH471055,Y17775,BC001689,BI913588,CR607188,CR620282,Y10319 NP_000378,EAW64929,CAB55356,AAH01689,CAA71367,O43772,ABM83525,ABM86754 Hs.13845 GDB:6503297 CAC|CACT protein-coding 1347032 SLC25A20P solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene 789 NG_001087,AJ000401,AL034343 GDB:9274899 CACTP pseudo 1350119 SLC25A21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM] 727306,1580863 15489334,12477932,11083877 727306 89874 NM_030631,AL079303,AL079304,AL121775,AL162464,CH471078,AJ278148,AK289575,BC012470,BC040167,BC101521,BC113365 NP_085134,EAW65851,CAC27562,BAF82264,AAI01522,AAI13366,Q9BQT8 Hs.651384,Hs.693866 GDB:11508503 MGC126570|ODC|ODC1 protein-coding 1317247 SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22 The SLC25 gene family encodes mitochondrial carriers that transport a variety of metabolites across the inner mitochondrial membrane (Palmieri, 2004 [PubMed 14598172]). SLC25A22, also known as GC1, is 1 of the 2 mitochondrial glutamate/H+ symporters, the other being SLC25A18 (MIM 609303).[supplied by OMIM] 1580863 14598172,12477932,11566871,11897791,17353931,15592994,15489334,14702039 79751 NM_024698,AP006621,CH471158,AJ428202,AK023106,AK290481,AL832423,BC019033,BC023545,BC024212 NP_078974,EAX02385,EAX02386,EAX02387,EAX02388,EAX02389,CAD21007,BAB14407,BAF83170,AAH19033,AAH23545,AAH24212,Q9H936,ABM83846,ABM86865 Hs.99486 FLJ13044|GC1 protein-coding 1343183 SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 1580863 15801905,15716113,15123600,15054102,14702039,12477932 79085 NM_024103,AC010503,CH471139,AJ512835,AJ619962,AJ619988,AJ879080,AJ879081,AJ879082,AJ879083,AK027562,AK054901,AK074579,AW379976,AY750170,BC001656,BG706035,CR602513 NP_077008,EAW69087,EAW69088,EAW69089,CAD55563,CAF04059,CAF04494,CAI51682,CAI51683,CAI51684,CAI51685,BAB70825,BAC11071,AAU95077,AAH01656,Q4LBC4,Q4LBC5,Q9BV35 Hs.356231 APC2|MCSC2|MGC2615|SCaMC-3 protein-coding 1607032 SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 15123600,15054102,12477932,11230166 29957 NM_013386,NM_213651,AL359258,AL390036,CH471156,AF123303,AJ619961,AJ619987,AK292567,AL050209,BC014519,BC029377,BC029905,BC068010,BC068561,BQ685792,DC340944,DC416591 NP_037518,NP_998816,CAI14512,CAI14513,EAW51254,EAW51255,AAF28888,CAF04058,CAF04493,BAF85256,AAH14519,AAH29377,AAH68561,Q6NUK1,Q7L1J8 Hs.656870 APC1|DKFZp586G0123|SCAMC-1 protein-coding 1351086 SLC25A25 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 15123600,15054102,12975309,12645546,12477932,11572484 114789 NM_001006641,NM_001006642,NM_052901,NM_001006643,AL360268,AL590708,CH471090,AB067483,AJ619963,AJ619989,AJ619990,AJ619991,AJ619992,AK290705,AK290991,AL559911,AY358515,BC005163,BC036889,BC044631,BC061925,BC089448,BC103930,BC103931,BC103932,BC103933,BX642627,CR598512 NP_001006642,NP_001006643,NP_443133,NP_001006644,CAI13826,CAI13827,CAI13836,CAI13838,EAW87738,EAW87739,BAB67789,CAF04060,CAF04495,CAF04496,CAF04497,CAF04498,BAF83394,BAF83680,AAQ88879,AAH05163,AAH89448,AAI03931,AAI03932,AAI03933,AAI03934,Q6KCM7 Hs.5476 KIAA1896|MCSC|MGC105138|MGC119514|MGC119515|MGC119516|MGC119517|PCSCL|RP11-395P17.4|SCAMC-2 protein-coding 1318797 SLC25A26 solute carrier family 25, member 26 Mitochondrial carriers, including SLC25A26, are a family of transport proteins found mostly in the inner membranes of mitochondria. They shuttle metabolites and cofactors through the mitochondrial membrane (Agrimi et al., 2004 [PubMed 14674884]).[supplied by OMIM] 1580863 14674884,16641997,16344560,14702039,12477932 115286 NM_173471,AC092034,CH471055,AJ580932,AK092495,AK096876,AK291873,AX747571,BC003399,BC012852,BX358127,CR592739,CR601150,CR606146,CR616539,CR619193,CR620013,CR621283,CR749718,DA420010 NP_775742,EAW65448,EAW65449,EAW65450,EAW65451,CAE45652,BAF84562,AAH03399,AAH12852,CAI46206,Q5HCH6,Q70HW3 Hs.379386 DKFZp434E079|FLJ77340|SAMC protein-coding 1344458 SLC25A27 solute carrier family 25, member 27 Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. 1580863 11994670,10025957,17066476,17035241,16775390,16378686,14702039,12975309,12477932,10928996,10772343,10620491,8889548 9481 NM_004277,AL591242,CH471081,AF110532,AK090871,AK291427,AY358711,BC033091,CB243903 NP_004268,CAH73900,CAH73901,CAH73903,CAH73904,EAX04298,EAX04299,AAD16995,BAF84116,AAQ89951,AAH33091,O95847,Q5VTS5,Q5VTS6,Q5VTS7,Q5VTS8,Q5VTS9,Q8N518 Hs.40510 FLJ33552|RP11-446F17.2|UCP4 protein-coding 1312988 SLC25A28 solute carrier family 25, member 28 1580863 15489334,15164054,14702039,12477932,12107412,11297739 81894 NM_031212,AL353719,CH471066,AF267854,AF327402,AF327403,AJ303077,AJ303078,AK056782,AL831943,BC015951,BC047312,BC058937,BC064541,BC076399,BC094821,CD672723,CR590395,CR591608,CR601812,CR601821,CR605062 NP_112489,CAI16900,CAI16901,EAW49863,EAW49864,EAW49865,EAW49866,AAG44723,AAK49519,AAK49520,CAC27996,CAC27997,CAH10774,AAH15951,AAH47312,AAH58937,AAH76399,AAH94821,Q96A46,Q96B53 Hs.403790 DKFZp547C109|MFRN2|MRS3/4|MRS4L|NPD016 protein-coding 1317684 SLC25A29 solute carrier family 25, member 29 1580863 14702039,12882971,12477932 123096 NM_001039355,AL157871,CH471061,AK095532,AK096294,AK123821,AK172788,AK289627,AL832299,BC132964,BC132966,BX247983,CR592557,CR598575,CR600250,CR600978,CR606012,CR614751,CR618322 NP_001034444,EAW81692,EAW81693,EAW81694,EAW81695,BAC04751,BAD18767,BAF82316,AAI32965,AAI32967,CAD62317,Q541V0,Q8N8R3 Hs.578109 C14orf69|CACL|FLJ38975 protein-coding 732727 SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. 8144629,8168843,1777677,17273968,16303743,15984930,15489334,15324660,14702039,12477932,9733094,9373149,8575787,8125298,14743216 5250 NM_213611,NM_213612,NM_005888,NM_002635,AC013283,CH471054,CS185525,X77337,AB064666,AK057575,AK074759,AK092689,AK222658,BC000998,BC003504,BC004345,BC006455,BC011574,BC011641,BC014019,BC015379,BC051367,BC068067,BI458030,BX647062,CR590721,CR590743,CR592190,CR593986,CR594933,CR596810,CR599567,BC001328,CR600130,CR600339,CR603083,CR604716,CR606951,CR608626,CR609226,CR610653,CR610729,CR611288,CR614591,CR616614,CR616876,CR621240,CR621579,CR625413,X60036 NP_998776,NP_998777,NP_005879,NP_002626,EAW97595,EAW97596,EAW97597,EAW97598,EAW97599,EAW97600,CAJ42706,CAB56611,CAB56612,BAB93517,BAC11187,BAD96378,AAH00998,AAH01328,AAH03504,AAH04345,AAH06455,AAH11574,AAH11641,AAH14019,AAH15379,AAH51367,CAE46080,CAA42641,Q00325,Q53HC3,Q6MZF9,Q7Z7N7,Q8NCF7,ABM81884,ABW03346 Hs.290404 GDB:138454 OK/SW-cl.48|PHC solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 3 protein-coding 1606937 SLC25A30 solute carrier family 25, member 30 Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM] 15809292,14702039,12477932 253512 NM_001010875,AL627107,CH471075,AK074457,AK094133,AK095465,AL832206,BC129808,BC132739,BC136760 NP_001010875,CAI23613,EAX08739,AAI32740,AAI36761,Q5SVS4 Hs.591230 KMCP1 protein-coding 1606496 SLC25A31 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM] 17137571,16381901,15670820,15489336,12477932,11256614,11230166,11076863 83447 NM_031291,AC093591,CH471056,AJ863129,AL136857,AY550240,BC022032 NP_112581,AAY40974,EAX05199,EAX05200,CAI05952,CAB66791,AAT42263,AAH22032,Q9H0C2,CAL38140 Hs.149030 AAC4|ANT4|DKFZp434N1235|SFEC35kDa protein-coding 1605933 SLC25A32 solute carrier family 25, member 32 Folate metabolism is distributed between the cytosolic and mitochondrial compartments. SLC25A32 is a transporter that shuttles folates from the cytoplasm into mitochondria (Titus and Moran, 2000 [PubMed 10978331]).[supplied by OMIM] 10978331,15489334,14702039,12477932 81034 NM_030780,AC012213,CH471060,AF283645,AK027531,AK027787,AK074452,AK125492,BC021893 NP_110407,EAW91877,EAW91878,AAG37834,BAB55180,BAB55368,AAH21893,Q9H2D1 Hs.654812 FLJ23872|MFT|MFTC protein-coding 1604265 SLC25A33 solute carrier family 25, member 33 SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14715278,12477932,12887330 84275 NM_032315,AL928921,AL954705,CH471130,AF495714,AJ880283,BC004991,BC073135,CR593565,CR594441,CR595626,CR620898 NP_115691,CAI17271,EAW71620,AAM18051,CAI54244,AAH04991,AAH73135,Q9BSK2 Hs.568613 BMSC-MCP|MGC4399 protein-coding 1606920 SLC25A34 solute carrier family 25, member 34 SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932 284723 NM_207348,AL450998,CH471167,AK024244,AL832282,BC027998,CR749264 NP_997231,CAH70849,EAW51747,AAH27998,CAH18120,Q6PIV7 Hs.631867 DKFZp781A10161|RP11-169K16.2 protein-coding 1605787 SLC25A35 solute carrier family 25, member 35 SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932 399512 NM_201520,AC135178,CH471108,AK097536,AY498866,BC041597,BC052233,BC101329,BC101330,BC105995 NP_958928,EAW90062,EAW90063,BAC05091,AAR92153,AAI01330,AAI01331,AAI05996,Q3KQZ1 Hs.118918 FLJ40217|MGC120446|MGC120448 protein-coding 1605658 SLC25A36 solute carrier family 25, member 36 16344560,16169070,14702039,12887330,12477932 55186 NM_001104647,NM_018155,AC108727,AC132032,CH471052,AK001480,AL049246,AL136803,BC014064,BC019859,BC036272,BM552452,BQ718950,BQ771812,CR602139,DA593079 NP_001098117,NP_060625,EAW79011,EAW79012,EAW79013,BAA91715,CAB66737,AAH14064,AAH19859,Q96CQ1 Hs.144130 DKFZp564C053|FLJ10618 protein-coding 1605395 SLC25A37 solute carrier family 25, member 37 SLC25A37 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,16511496,16303743,15489334,14702039,12477932,11845285,10931946,9373149,8125298 51312 NM_016612,AC051642,CH471080,CQ783918,AF113696,AF116630,AF116640,AF155660,AF223466,AF495725,AK074708,AK075313,AK093931,AK127666,AK223194,AL833186,AY032628,BC015013,BC033834,BC132799,BC132801,BI460337,BM926580,CR592142 NP_057696,EAW63617,CAF86924,AAF71053,AAF71063,AAF67479,AAF64141,AAQ06679,BAD96914,CAH10415,AAK38154,AAH15013,AAI32800,AAI32802,Q71JB2,Q9NPB5,Q9NYZ2,Q9P1J9 Hs.122514,Hs.596025,Hs.658208 HT015|MFRN|MSC|MSCP|PRO1278|PRO1584|PRO2217 protein-coding 1606272 SLC25A38 solute carrier family 25, member 38 SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,16344560,12477932,9373149,8125298 54977 NM_017875,AC099332,AC104850,CH471055,AK000558,AK026356,AK225388,BC013194,BQ574159,CR457242,CR591050,CR614324,CR619847,CR621188,DB113609 NP_060345,EAW64579,EAW64580,EAW64581,BAA91253,AAH13194,CAG33523,Q96DW6 Hs.369615 FLJ20551|FLJ22703 protein-coding 1604622 SLC25A39 solute carrier family 25, member 39 SLC25A39 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,15489334,14702039,12477932,11256614,11230166,11139402,10810093 51629 AC003043,CH471178,AB209576,AF119864,AF151827,AF317711,AK026060,AK289357,NM_016016,AL133584,BC001398,BC009330,BC011178,BC096819,CR592282,CR593702,CR594793,CR596200,CR597204,CR597981,CR599080,CR600839,CR603632,CR604586,CR605364,CR605651,CR606690,CR610093,CR611356,CR613206,CR614240,CR614562,CR616742,CR616754,CR616958,CR617700,CR618969,CR623712,CR625111,CR625811,CR601587 NP_057100,EAW51602,EAW51603,EAW51604,EAW51605,EAW51606,EAW51607,BAD92813,AAF69618,AAD34064,AAG60687,BAB15341,BAF82046,CAB63728,AAH01398,AAH09330,AAH96819,Q0JVL2,Q59F84,Q9BZJ4 Hs.514216 CGI-69|CGI69|FLJ22407 protein-coding 732748 SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 1581261,1580618,1580619,1580620,1580621,1580622,1580863 2823266,10926541,17420318,16887100,16556444,16155110,16120388,16107323,16020522,15792871,15551024,15489334,15231833,14729611,12750404,12750393,12707443,12565915,12477932,12450408,12140186,12112115,12039962,11809823,11756613,11756592,11193032,11181702,11175251,10620603,10364542,9748162,8644740,8479824,8103757,2829183,2547778,2541251,1582253,16511342,16492162,16354571,16429131,15832179,15817944,15725353,15638722,15142377,12663490,15033717,12149099,16189514 1581261,1580618,1580619,1580620,1580621,1580622 291 AC093824,CH471056,J04982,AB209764,AK291902,BC008664,BC061589,BC063643,BG707401,CR598134,CR611257,CR614607,CR615898,J02966,J03593,NM_001151 NP_001142,EAX04655,EAX04656,AAA51736,BAD93001,BAF84591,AAH08664,AAH61589,AAH63643,AAA61223,AAA36751,P12235,Q59EP7,ABM82473,ABM85661 Hs.246506 GDB:119680 AAC1|ANT|ANT1|PEO2|PEO3|T1 solute carrier family 25 (mitochondrial adenine nucleotide translocator) member 4 protein-coding 1607018 SLC25A40 solute carrier family 25, member 40 SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,12690205,12477932,9373149,8125298 55972 NM_018843,AC003083,CH236949,CH471091,AF125531,AK223020,AK290848,BC027322,BU933121,BX362003,CR609204,CR610506 NP_061331,AAS07443,EAL24171,EAW76933,EAW76934,EAW76935,AAF17225,BAD96740,BAF83537,AAH27322,Q8TBP6 Hs.208414 MCFP protein-coding 1604180 SLC25A41 solute carrier family 25, member 41 SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932 284427 NM_173637,AC011539,CH471139,AK097761,BC031671 NP_775908,EAW69092,EAW69093,EAW69094,BAC05163,AAH31671,Q8N5S1 Hs.375135 FLJ40442|MGC34725 protein-coding 1604178 SLC25A42 solute carrier family 25, member 42 SLC25A42 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 12477932,16949250 284439 NM_178526,AC002126,AC003038,AC004143,CH471106,AF521885,BC041973,BC045598,CR619329 NP_848621,AAB86983,EAW84777,EAW84778,EAW84779,AAM81327,AAH45598,Q86VD7,Q8NHH2 Hs.303669 MGC26694 protein-coding 1605262 SLC25A43 solute carrier family 25, member 43 SLC25A43 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932 203427 NM_145305,AC004000,AC004973,CH471161,AK091304,AK094254,AK292035,AL590525,BC019584,BC071871 NP_660348,AAC62432,EAW89873,EAW89874,EAW89875,BAC04318,BAF84724,CAC36518,AAH19584,AAH71871,Q8WUT9,Q9BR35 Hs.496658 protein-coding 1605709 SLC25A44 solute carrier family 25, member 44 SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,16710414,16303743,15489334,12477932,9455484 9673 AK075002,BC008843,BC039854,NM_014655,AL135927,CH471121,CQ782989,CQ783742,AB007915,AK074912 BAC11287,BAC11347,AAH08843,AAH39854,Q96H78,NP_055470,CAI15534,EAW52991,CAF86209,CAF86839,BAA32291 Hs.532375 FLJ90431|KIAA0446|RP11-54H19.3 protein-coding 1604185 SLC25A45 solute carrier family 25, member 45 SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,16344560,14702039,12477932 283130 NM_001077241,NM_182556,AP000944,CH471076,AK090434,AK091190,AY597807,BC036869,BC041100,BX648573,CR591170,DA872876 NP_001070709,NP_872362,EAW74380,EAW74381,EAW74382,EAW74383,BAC03415,AAT09000,AAH36869,AAH41100,Q8N413,Q8NF46 Hs.661604 protein-coding 1606754 SLC25A46 solute carrier family 25, member 46 SLC25A46 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM] 16949250,14702039,12477932,1651563,1651562 91137 NM_138773,AC008650,CH471086,CQ834278,AK091427,AK290217,BC017169,M74089 NP_620128,EAW49040,EAW49041,CAH05354,BAF82906,AAH17169,AAA03587,Q96AG3 Hs.75639 protein-coding 732042 SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 1580863 2168878,10620603,18215124,16120388,15772651,15489334,15486956,12777383,12477932,12450408,11602586,11287411,9698557,9315697,8918809,7713517,3031073,2829183,14743216 292 NM_001152,AC004000,CH471161,L78810,M57424,BC056160,BC068199,BQ223988,CR592623,CR592895,CR595785,CR595951,CR597221,CR600578,CR601071,CR602133,CR607413,CR607905,CR609199,CR609751,CR609949,CR613248,CR613831,CR613844,CR615679,CR616343,CR617141,CR618379,CR622239,CR622988,CR625934,J02683,J03591 NP_001143,AAB96347,EAW89868,EAW89869,EAW89870,AAB39266,AAA51737,AAH56160,AAH68199,AAA35579,AAA36749,P05141,Q6NVC0 Hs.644618 GDB:125190 2F1|AAC2|ANT2|T2|T3 protein-coding 1345736 SLC25A5P1 solute carrier family 25, member 5 pseudogene 1 266623 GDB:11510590 1349745 SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 1580863 2541251,14726512,17220478,17855512,16930576,16556444,16201016,16189514,16169070,16120388,15489334,15063741,15033708,14746803,12707443,12477932,12450408,12112115,11872176,11756613,10926541,9110174,8619474,8490661,8486369,2829183,2823266,2547778,14743216 293 AL683870,CH471074,AB209822,AY007135,BC007295,BC007850,BC008737,BC008935,BC013256,BC014775,BC031912,BC035469,CR457400,NM_001636,CR593822,CR594807,CR595090,CR596158,CR598499,CR600326,CR601191,CR602406,CR605622,CR605865,CR606747,CR607716,CR608211,CR608258,CR608602,CR608604,CR611005,CR612250,CR614755,CR615701,CR615726,CR616158,CR616847,CR616880,CR616995,CR618595,CR619035,CR620782,CR622476,CR623906,CR624048,CR624094,CR626642,J03592 NP_001627,EAW98680,BAD93059,AAG01998,AAH07295,AAH07850,AAH08737,AAH08935,AAH14775,AAH31912,CAG33681,AAA36750,P12236,Q59EI9,Q5JQ50,Q6I9V5,ABM82404,ABM85593 Hs.350927 GDB:125184 AAC3|ANT3|ANT3Y|MGC17525 protein-coding 1343024 SLC25A6P1 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 128790 NG_003107,AL035562 SLC25A5L|dJ1065O2.2 pseudo 736905 SLC26A1 solute carrier family 26 (sulfate transporter), member 1 This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. 1580863 11087667,17881426,17119850,12713736,12477932,11581495 10861 NM_134425,NM_213613,NM_022042,AC019103,CH471131,AF297659,AK292747,AY124771,BC015517,BF589989 NP_602297,NP_998778,NP_071325,EAW82628,EAW82629,AAG22075,BAF85436,AAM94171,AAH15517,Q3SX88,Q7Z5R3,Q96BK0,Q9H2B4,AAI56323,AAI57109 Hs.658244 GDB:9958419 EDM4|SAT-1|SAT1 protein-coding 1345527 SLC26A10 solute carrier family 26, member 10 1580863 12477932 65012 NM_133489,AC025165,AF331523,AK122981,BC068027,AL050358 NP_597996,AAM92901,BAC85515,Q6ZWI7,Q8NG04,Q96M35 Hs.159481 GDB:11507837 protein-coding 1314648 SLC26A11 solute carrier family 26, member 11 Like most members of the SLC26A family, SLC26A11 is a sodium-independent sulfate transporter (Vincourt et al., 2003 [PubMed 12626430]).[supplied by OMIM] 12626430,16303743,12477932 284129 AC123764,CH471099,CQ784015,AF331524,AF345195,AJ544073,AK075248,AL833468,BC015160,BC035900,BC047451,NM_173626 NP_775897,EAW89592,CAF86970,AAM92902,AAO26673,CAD66450,BAC11496,AAH15160,AAH35900,AAH47451,Q86WA9,Q96BU7 Hs.4866 GDB:11507839 MGC46523 protein-coding 732217 SLC26A2 solute carrier family 26 (sulfate transporter), member 2 The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. 1600010,1580863 7923357,8528239,18056413,17393463,17081983,16719839,15523498,15489334,14692227,12966518,12477932,12193993,11834742,11581495,11558903,11457925,11087667,10466420,9822202,9575183,8571951,1783404 1600010 1836 NM_000112,NG_007147,AC008427,AF190156,AF190160,AK025078,AK290358,AW089339,BC059390,BI912879,BQ437711,BX640696,U14528 NP_000103,AAQ13700,AAQ13704,BAF83047,AAH59390,CAE45819,AAA70081,P50443,Q6N051,Q7Z4B6,Q7Z4C0 Hs.302738,Hs.648366 GDB:125421 D5S1708|DTD|DTDST|EDM4|MST153|MSTP157 protein-coding 1346275 SLC26A3 solute carrier family 26, member 3 The protein encoded by this gene is a transmembrane glycoprotein that functions as a sulfate transporter. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. Mutations in this gene have been associated with congenital chloride diarrhea. 1600011,1580863 7683425,8896562,9554749,18216024,17761837,16715296,16606687,16412765,15766278,15489334,15480750,15342556,12651923,12477932,12442266,12372813,12369822,11834742,11581495,11524734,11087667,9718329,9717812,9473459,8140616,8020951 1600011 1811 NM_000111,AC002467,AC005046,CH236947,CH471070,BC025671,BP262081,BX640837,L02785 NP_000102,AAB88772,EAW83418,EAW83419,EAW83420,AAH25671,CAE45910,AAA58443,P40879,Q6MZW7,Q75N04,ABM82476,ABW03417 Hs.1650 GDB:138165 CLD|DRA protein-coding 736428 SLC26A4 solute carrier family 26, member 4 Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. 1599215,1599216,1599217,1580863 18167283,18075246,18067822,17949297,17851929,17766716,17718863,17697873,17690912,17503324,17443271,17309986,16684826,16570074,16283880,16260629,16260428,15905611,15784681,15689455,15679828,15531480,15355436,10192399,9398842,18335745,18316665,18274916,18250610,15279074,15155570,14715652,14679580,14508505,12974744,12853948,12788906,12727986,12727855,12676893,10190331,9618167,9618166,9500541,9070918,8706311,8630498,12112665,11932316,11919333,11834742,11748854,11716048,11581495,11375792,11317356,11274445,11087667,10878664,10843192,10718825,10700480,10602116,8630497,8541853 1599215,1599217 5172 NM_000441,AC002467,AC078937,CH236947,CH471070,AF030880 NP_000432,AAB88773,AAS02011,EAW83414,AAC51873,O43511,Q75MC7,AAI48376,AAI53003 Hs.571246 GDB:5584511 DFNB4|PDS protein-coding 1603482 SLC26A5 solute carrier family 26, member 5 (prestin) This gene is a member of the SLC26A/SulP transporter family. It encodes a protein that is specifically expressed in outer hair cells (OHCs) of the cochlea and is essential in auditory processing. Intracellular anions are thought to act as extrinsic voltage sensors, which bind to this protein and trigger the conformational changes required for rapid length changes in OHCs. Mutations in this gene have been associated with non-syndromic hearing loss. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 12719379,18073211,17933870,17786286,17151276,16873410,16086836,15660259,15140192,14747354,12853948,12477932,12239568,11867734,11836512,11581495,11423665,11087667,10821263,9847074 375611 NM_206885,NM_206884,NM_206883,NM_198999,AC004668,AC005064,AC093701,CH236947,CH471070,AF523354,AK126898,AY256823,AY256824,AY256825,AY289133,AY289134,BC100832,BC100833,BC100834,BC100835 NP_996768,NP_996767,NP_996766,NP_945350,EAW83334,EAW83335,AAP31417,AAP31532,AAP31533,AAP31534,AAP43685,Q7Z7F3,Q7Z7F4,AAP43686,AAI00833,AAI00834,AAI00835,AAI00836,P58743,Q496J0,Q496J1,Q496J2,Q496J3 Hs.585146 GDB:10450487 DFNB61|MGC118886|MGC118887|MGC118888|MGC118889|PRES protein-coding 1320955 SLC26A6 solute carrier family 26, member 6 This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Several alternatively spliced transcript variants of this gene, encoding distinct isoforms, have been described, but the full-length nature of some of these variants has not been determined. 1580863 17881426,17120764,17081983,16606687,16344560,15956810,15548529,15489334,14702039,12477932,12217875,11581495,11247665,11087667,10610771 65010 AB033288,AB102713,AB208936,AF161369,AF279265,AF288410,AF416721,AK056237,NM_134426,NM_022911,AL050170,BC017697,DA702248,NM_134263,NM_001040454,AC121252,AF195347,CH471055 EAW64913,BAB69041,BAC56861,BAD92173,AAF28929,AAF81911,AAK19153,AAN07094,BAB71126,NP_602298,NP_075062,CAB43306,AAH17697,Q548A7,Q59H23,Q5Y190,Q86YZ4,Q96MZ1,Q9BXS9,Q9NQU1,Q9P0D0,Q9Y3Y1,ABM82647,ABW03410,NP_599025,NP_001035544,AAF20748,EAW64900,EAW64901,EAW64902,EAW64903,EAW64904,EAW64905,EAW64906,EAW64907,EAW64908,EAW64909,EAW64910,EAW64911,EAW64912 Hs.631925,Hs.663208 GDB:10450489 DKFZp586E1422 protein-coding 1321983 SLC26A7 solute carrier family 26, member 7 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Splice variants that use both alternate transcription initiation and polyadenylation sites have been described for this gene. 12477932,11834742,11829495,11581495,1183472,12736153,16524946,15956810,15284286,14702039,12965893 115111 NM_052832,NM_134266,AC087847,AC104967,CH471060,AF331521,AJ413228,AJ413229,AJ413230,AK122933,AW235609,BC060784,BC068472,BC094730,BC113866,BC114474 NP_439897,NP_599028,EAW91679,EAW91680,AAK95665,CAC88370,CAC88371,CAC88372,AAH94730,AAI13867,AAI14475,Q8TE54 Hs.354013 GDB:11507841 MGC126268|SUT2 protein-coding 1347727 SLC26A8 solute carrier family 26, member 8 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. This gene is expressed primarily in spermatocytes. Two transcript variants encoding different isoforms have been found. 1580863 1183472,11278976,15579655,14702039,12477932,11834742,11829495,11581495 116369 NM_052961,AL133507,CH471081,Z95152,AF314959,AF331522,AI015633,AK055314,AK057276,AK097410,AK122928,AK125189,BC025408,NM_138718,BG702985 NP_443193,NP_619732,CAI40882,CAI40884,EAX03862,EAX03863,EAX03864,EAX03865,EAX03866,CAI19692,AAL26868,AAK95666,BAB71408,AAH25408,Q5JVR4,Q96RN1 Hs.435836 GDB:11507843 FLJ32714|TAT1 protein-coding 1321344 SLC26A9 solute carrier family 26, member 9 This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. Two splice variants that encode different isoforms have been identified. 17673510,17120765,14702039,12477932,11834742,11581495 115019 NM_052934,NM_134325,AL713965,CH471067,AF314958,AF331525,AK091876,AK127491,BC037978,BC151208 NP_443166,NP_599152,EAW91587,EAW91588,AAL26867,AAK95667,BAC03763,AAI51209,Q5SQX0,Q7LBE3,Q8NAY2 Hs.164073 GDB:11507845 protein-coding 1604940 SLC27A1 solute carrier family 27 (fatty acid transporter), member 1 1642793,1642790,1642794 15978856,15897321,15489334,12818409,12477932,12235169,10873384,9671728,7954810 1642793,1642790,1642794 376497 NM_198580,AC010319,AC010618,CH471106,AK131101,BC013149,BC059399 NP_940982,EAW84609,EAW84610,EAW84611,BAC85151,AAH13149,AAH59399,Q6PCB7,Q6ZNJ4,Q96DY3 Hs.363138 GDB:9956105 ACSVL5|FATP|FATP1|FLJ00336|MGC71751 protein-coding 1346073 SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 The protein encoded by this gene is an isozyme of 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 activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. 1580863 10198260,14702039,12477932,11980911,10479480,10471116,9730624,9671728,9373149,8939997,8125298 11001 NM_003645,AC009753,CH471082,AF096290,AK123905,AK222859,AK223145,AK290262,BC057770,CR602275,D88308 NP_003636,EAW77384,EAW77385,EAW77386,AAC64973,BAD96579,BAD96865,BAF82951,AAH57770,BAA23644,O14975,Q53FY6,Q53GS2,Q6PF09 Hs.11729 GDB:9955544 ACSVL1|FACVL1|FATP2|HsT17226|VLACS|VLCS|hFACVL1 protein-coding 1321607 SLC27A3 solute carrier family 27 (fatty acid transporter), member 3 16710414,15489334,15469937,14702039,12975309,12477932,9671728 11000 NM_024330,AL513523,CH471121,AJ577572,AK027499,AK074134,AK075377,AK123997,AK125102,AY358409,BC003041,BC003654,BC009916,BC029792,CR606981 NP_077306,CAH71420,CAH71421,CAH71422,CAH71423,EAW53274,EAW53275,EAW53276,EAW53277,EAW53278,CAE12158,CAE12159,BAB55156,BAB84960,BAC11578,BAC86050,AAQ88775,AAH03041,AAH03654,AAH09916,AAH29792,Q5K4L6,Q5K4L7,Q5VUR4,Q8TEJ0,ABM84355,ABM86877,Q5VUR3 Hs.438723 GDB:9956098 ACSVL3|FATP3|MGC4365|VLCS-3 protein-coding 1316551 SLC27A4 solute carrier family 27 (fatty acid transporter), member 4 1625640,1625638 9878842,17353931,17901542,15489334,15168018,15164053,14715877,14702039,12477932,10518211,9671728 1625640,1625638 10999 NM_005094,AL359091,CH471090,AF055899,AK000722,AK027504,AK074831,AK290222,BC004268,BC009959,BC065003 NP_005085,CAI13488,CAI13490,EAW87779,EAW87780,AAD11623,BAF82911,AAH04268,AAH09959,AAH65003,Q6P1M0,Q96G53,Q9BTA1 Hs.656699 GDB:9958696 ACSVL4|FATP4 protein-coding 1349953 SLC27A5 solute carrier family 27 (fatty acid transporter), member 5 The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. 1580863 16552721,14702039,11980911,10749848,10471116,9671728,9642112,10479480,17266179 10998 NM_012254,AC012313,CH471135,AB208931,AF064255,AK026640,AK123036 NP_036386,EAW72601,BAD92168,AAD29444,Q59H28,Q9Y2P5,AAI46388,AAI48808 Hs.292177 GDB:9958695 ACSB|ACSVL6|FACVL3|FATP5|FLJ22987|VLACSR|VLCS-H2|VLCSH2 protein-coding 1323714 SLC27A6 solute carrier family 27 (fatty acid transporter), member 6 This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. 10471116,16169070,15489334,12556534,12477932,10749848,10479480,9671728 28965 NM_014031,NM_001017372,AC004636,AC006959,CH471062,AA614135,AF064254,AL833117,BC041945,BX537383,CR457129 NP_054750,NP_001017372,EAW62387,AAD29443,AAH41945,CAD97625,CAG33410,Q9Y2P4 Hs.49765 GDB:9958694 ACSVL2|DKFZp779M0564|FACVL2|FATP6|VLCS-H1 protein-coding 733249 SLC28A1 solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 1580863 9124315,18207572,17926640,17453413,17279631,17187757,15456697,15386342,14978229,14668133,14581375,12477932,12411296,12388627,12097333,11396613,11353816,10455109,10087507 9154 NM_004213,NM_201651,AC087468,AC103741,AF187978,CH471101,AF309632,AK291997,BC029788,BC039898,BC126204,BC126206,U62967,U62968 NP_004204,NP_964014,AAF15353,EAX01962,EAX01963,EAX01964,AAL09447,BAF84686,AAH29788,AAI26205,AAI26207,AAB53838,AAB53839,A0AV42,O00337,Q5U5S6,Q5U648,Q96PL7,AAH39898 Hs.459187 GDB:9955128 CNT1|HCNT1 protein-coding 732572 SLC28A2 solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 1580863 9435697,17926640,17700367,17696452,17453413,17187757,16840788,15861032,15489334,15486050,15044622,12893280,12477932,12411296,12110519,11602688,11162617,10455109,10087507,9373149,8125298 9153 NM_004212,AC051619,CH471082,AF036109,AK222709,AK291974,BC093737,BC112047,U84392 NP_004203,EAW77303,EAW77304,AAB88539,BAD96429,BAF84663,AAH93737,AAI12048,AAC51930,O43868,Q2M2A7,Q53H72 Hs.367833 GDB:9955125 CNT2|HCNT2|HsT17153|MGC138252|SPNT1 solute carrier family 28, member 2 protein-coding 731872 SLC28A3 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM] 1580863 18199742,17993510,17926640,17696452,17453413,17412768,17409283,16446384,16271041,15870078,15861042,15738947,14504928,12477932,11032837 64078 NM_022127,AL353787,AL356134,CH471089,AF305210,AK292849,BC093821,BC093823 NP_071410,EAW62686,AAG22551,BAF85538,AAH93821,AAH93823,Q9HAS3 Hs.591877 GDB:11507847 CNT3 protein-coding 737565 SLC29A1 solute carrier family 29 (nucleoside transporters), member 1 This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. 1580863 8986748,14667819,18187485,18064606,17926640,17921321,17658213,17409283,17162590,16858130,16818276,16818266,16688763,16609362,16595656,16344560,16333246,15933265,15649894,15632314,15557207,15529184,15489334,14759222,14702039,14607828,12820662,12527552,12477932,12389626,12384580,12097333,12008078,12006583,11814344,11584005,10755314,9396714,9344680,8889548 2030 NM_001078174,NM_004955,NM_001078175,NM_001078176,NM_001078177,AF190884,AF495730,AL139392,CH471081,AF079117,AK090491,AK090615,BC001382,BC008954,BC095398,BM661584,CB996332,CR593431,CR593933,CR603305,CR619640,CR621028,CR623545,CR625059,DA559201,DA680982,U81375 NP_001071642,NP_004946,NP_001071643,NP_001071644,NP_001071645,AAF02777,AAM11785,CAI20093,EAX04254,EAX04255,EAX04256,AAC62495,AAH01382,AAH08954,AAC51103,Q5T9W9,Q99808,ABM83059,ABM86253 Hs.25450 GDB:6185982 ENT1|MGC1465|MGC3778 solute carrier family 29, member 1 protein-coding 733577 SLC29A2 solute carrier family 29 (nucleoside transporters), member 2 1580863 9396714,7639753,17926640,17921321,16924660,16214850,15649894,15644498,15489334,15386342,14702039,14612157,12838422,12820662,12590919,12527552,12477932,12411296,12006583,9478986,9192854 3177 NM_001532,AP001107,CH471076,AF029358,AF034102,AF401235,AK057041,BC011387,BC093634,CR621298,X86681 NP_001523,EAW74519,EAW74520,EAW74521,EAW74522,AAC39526,AAB97834,AAK92533,AAH11387,AAH93634,CAA60380,Q14542,Q96FB2,Q96R00 Hs.569017 GDB:5892180 DER12|ENT2|HNP36 solute carrier family 29, member 2 protein-coding 1351725 SLC29A3 solute carrier family 29 (nucleoside transporters), member 3 1302477,1580863 15701636,15489334,14702039,12975309,12477932,12384580,11396612 1302477 55315 BC000223,BC041575,BC050589,BC063019,BC120996,BC120997,CR602243,CR603307,DC319920,NM_018344,AL359183,AL359384,BK000392,CH471083,AF326987,AK002022,AY288928,AY358686 AAQ89049,AAH00223,AAH41575,AAI20997,AAI20998,Q5T465,Q9BWI2,Q9BZD2,Q9NUS9,NP_060814,CAI16088,DAA00364,EAW54423,EAW54424,EAW54425,AAK00958,BAA92041,AAP41133 Hs.438419 ENT3|FLJ11160 protein-coding 1321510 SLC29A4 solute carrier family 29 (nucleoside transporters), member 4 This gene is a member of the SLC29 family and encodes a plasma membrane protein with 11 transmembrane helices. This protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternate transcriptional splice variants which encode the same protein have been characterized. 1580863 17393420,17121826,17018840,16873718,16099839,15448143,14702039,12838422,12477932,8889548 222962 NM_001040661,NM_153247,BK000627,CH471144,AK075422,AK092242,AL515106,AY485959,BC025325,BC047592,BM069878,BU740709,CR600939,CR620848,CR624950,H07897 Q7RTT9,NP_001035751,NP_694979,DAA00308,EAW87329,EAW87330,BAC11612,BAC03836,AAS65965,AAH25325,AAH47592 Hs.4302 ENT4|FLJ34923|PMAT protein-coding 737272 SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 Glucose transporters are integral membrane glycoproteins involved in transporting glucose into most cells. GLUT1 is a major glucose transporter in the mammalian blood-brain barrier. It is present at high levels in primate erythrocytes and brain endothelial cells.[supplied by OMIM] 1624245,1580863,1626159,1625539 18311082,18290322,18271924,18212354,18097583,17727838,17635959,17611657,17591274,17504522,17452775,17451637,17442736,17404017,17387384,17294670,17192790,17167225,17081065,17080242,17071132,17064664,17020877,16842248,16800634,16681688,16681687,16519917,16443776,16407180,16344560,16310037,16273245,16220828,16195374,16172126,16147855,16142350,16136514,16126902,16125330,15967114,15955807,15847702,15823019,15778389,15767416,15745834,15709778,15682272,15502921,15489334,15454279,15342556,9462754,18343752,18324916,15331928,15147968,15086844,15073187,14991538,14757434,14702039,14688257,14674124,14622599,12969152,12942120,12849991,12752470,12673735,12583599,12554125,12477932,12379106,12379105,12145475,12133004,12122099,12112827,12086959,12064911,11991658,11953883,11920478,11842083,11836704,11774318,11747430,11681785,11603379,11477169,11425315,11296192,11231353,11168944,11136715,11007796,10980529,10759149,10655495,10562431,10227690,10198040,10086067,9153243,9110174,8662691,8619474,7829101,7798206,3839598,3170580,3028891,2834252,2394733,14679154 1624245,1626159,1625539 6513 AC099795,CH471059,CQ918450,M20653,AB208987,AF070544,AK122999,AK292791,AW137914,AY034633,BC118590,BC121804,BG682043,BI490999,BP314853,BQ948542,CR596198,CR596811,CR599895,CR600321,CR601030,NM_006516,CR601790,CR606282,CR606581,CR609110,CR618028,DA753077,K03195,CR606197 NP_006507,EAX07123,EAX07124,CAI23886,AAB61084,BAD92224,AAC28635,BAF85480,AAK56795,AAI18591,AAI21805,AAA52571,P11166,Q0P512,Q59GX2 Hs.473721,Hs.706748 GDB:120627 GLUT|GLUT1|MGC141895|MGC141896 solute carrier family 2,member 1 protein-coding 1315233 SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 SLC2A10 is a member of the facilitative glucose transporter family, which plays a significant role in maintaining glucose homeostasis.[supplied by OMIM] 1580863 11247674,16586067,16550171,16336637,16051383,15975113,15936967,15679832,15489334,14702039,12941788,12890477,12477932,11780052,11592815,12554125 81031 NM_030777,AL031055,CH471077,AF248053,AF321240,AF479407,AK055548,AK290961,AL137188,BC101657,BC113423 NP_110404,CAA19926,EAW75724,AAK31911,AAK26294,AAL87106,BAF83650,CAB69822,AAI01658,AAI13424,O95528,Q8TDC7 Hs.305971 GDB:11504569 ATS|GLUT10|MGC126706 protein-coding 1354509 SLC2A11 solute carrier family 2 (facilitated glucose transporter), member 11 SLC2A11 belongs to a family of plasma membrane proteins that mediate transport of sugars across the membrane by facilitative diffusion (Sasaki et al., 2001 [PubMed 11741323]).[supplied by OMIM] 1580863 11583593,17710649,16303743,16154905,15461802,12477932,12175779,11741323 66035 NM_030807,NM_001024938,NM_001024939,AB049214,AB067442,AB067443,AB067444,AP000350,CH471095,CS051291,AB209301,AF443201,AF479409,AJ271290,AK075467,BC063525,BC094735,BC100807,BC100808,BC100809,BC100810,CR456373,CR617581 NP_110434,NP_001020109,NP_001020110,BAB68410,BAB83504,BAB83505,BAB83506,EAW59613,EAW59614,EAW59615,EAW59616,EAW59617,EAW59618,CAI72140,BAD92538,AAL39061,AAL87108,CAC29020,BAC11637,AAH63525,AAH94735,AAI00808,AAI00809,AAI00810,AAI00811,CAG30259,Q496K8,Q496L1,Q504W2,Q542Y4,Q59G08,Q6ICJ5,Q6P4C1,Q8TDC5,Q8WXF9,Q8WYM3,Q8WYM4,Q8WYM5,Q9BYW1,CAK54509,CAK54808 Hs.632772 GDB:11508475 GLUT10|GLUT11|MGC118830|MGC118833|SLC2A11-a|SLC2A11-c protein-coding 1320922 SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12 SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM] 1580863 16803853,16344560,16091581,14702039,12914765,12890477,12583599,12477932,11832379,11780753 154091 NM_145176,AL035699,AL449363,CH471051,AK056554,AK122628,AK226098,AL833602,AY046419,BC070149,BX648889,DB253903 NP_660159,CAD92514,CAI17977,EAW47994,BAB71214,AAL02327,AAH70149,Q8TD20 Hs.486508 GDB:11507849 GLUT12|GLUT8 protein-coding 731999 SLC2A13 solute carrier family 2 (facilitated glucose transporter), member 13 634137,1580863 17081983,15489334,15203218,12477932,11500374 634137 114134 AC079630,AC117403,AC121335,AC121336,CH471111,AJ315644,AK000182,AK026495,BC039431,BC047507,BC117117,BC117119,CD635353,CR626416,NM_052885 NP_443117,EAW57811,CAC51116,AAH47507,AAI17118,AAI17120,Q86X07,Q96QE2 Hs.558595 GDB:11507851 HMIT|MGC48624 protein-coding 1347307 SLC2A14 solute carrier family 2 (facilitated glucose transporter), member 14 Members of the glucose transporter (GLUT) family, including SLC2A14, are highly conserved integral membrane proteins that transport hexoses such as glucose and fructose into all mammalian cells. GLUTs show tissue and cell-type specific expression (Wu and Freeze, 2002 [PubMed 12504846]).[supplied by OMIM] 1580863 15489334,12504846,12477932 144195 NM_153449,AC006517,AC124891,CH471116,AF481878,AF481879,AK122783,AK126026,AL832448,AY357941,BC060766 NP_703150,EAW88652,EAW88653,AAL89709,AAL89710,AAQ63763,AAH60766,Q8TDB8 Hs.655169 GLUT14 protein-coding 730861 SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 Glucose transporter 2 isoform is an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. It mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. 1624252,1624253,1580863 13480676,12477932,12017192,11988093,11978637,11810292,11592815,11344224,11247674,11044475,10987651,10697967,9686354,9354798,9266402,8923459,8626492,8482435,8063045,7593639,3399500,1862003,1852621,15889141,8027028,18349384,18220613,17636114,17204838,17192490,17141226,17065357,15983230,15009676,14614558,14551916 1624252,1624253 6514 NM_000340,AC061708,AC092918,CH471052,L09674,AK290846,AK292741,BC060041,J03810 NP_000331,EAW78498,EAW78499,EAW78500,BAF83535,BAF85430,AAH60041,AAA59514,P11168,Q6PAU8,Q9UCW9 Hs.167584 GDB:119995 GLUT2 1643508 BW262_H protein-coding 737055 SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3 1580863,1626159,1625539,1642802,1642812 18299470,1695905,17920708,17611657,17559076,17442736,16303743,16136514,16125330,16049004,15489334,14757434,12583599,12554125,12477932,12397394,12112827,12064911,11991658,10086067,9477959,9253355,7502272,3170580 1626159,1625539,1642802,1642812 6515 AC007536,NM_006931,AF274892,CH471116,AB209607,AK074861,AL110298,AY034634,BC039196,CR457413,CR621471,M20681 NP_008862,AAF82116,EAW88644,EAW88645,BAD92844,CAB53739,AAK56796,AAH39196,CAG33694,AAB61083,P11169,Q59F54,ABM82044,ABM85223,ABM85225 Hs.419240,Hs.655169 GDB:119996 FLJ90380|GLUT3 solute carrier family 2, member 2 protein-coding 1343832 SLC2A3P1 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 1 11882521,1695905 6516 M55536 Hs.388400 GLUT3P1|GLUT6|SLC2A3P pseudo 1354392 SLC2A3P2 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 2 11882521 391045 NG_005841,AC025866,AL606517 pseudo 1345033 SLC2A3P3 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3 11882521 399494 AC006517 1347560 SLC2A3P4 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 4 399495 AC103817 731478 SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). 1625188,1580863,1626159,1625539 2649253,11842083,14562105,18299470,18249389,18184930,18067156,18056982,17611657,17496362,17448565,17382906,17220298,17164432,17035674,16966355,16803853,16787385,16763099,16497805,16497797,16396496,16213228,16096283,15864539,15731326,15528266,15489334,15480742,15334390,15292352,15247266,15184360,15182197,15166000,14747278,14630949,12716734,12716391,12700047,12631717,12606502,12583599,12565902,12477932,12467732,12145475,12079888,12064911,11994746,11500317,11217863,11003568,10606624,10068455,9388492,8300557,7916714,2656669,2568955,1918382,1756912,1601840,1521731,1397719,15992544 1625188,1626159,1625539 6517 AC003688,CH471108,M91463,X58489,AL521328,BC034387,BC069615,BC069621,BC113592,BC126164,BQ775137,CF594356,CR603611,M20747,NM_001042 NP_001033,EAW90226,EAW90227,AAA52569,CAA41399,AAH34387,AAH69615,AAH69621,AAI13593,AAI26165,AAA59189,P14672 Hs.380691 GDB:119997 GLUT4 solute carrier family 2 , member 4 protein-coding 1343076 SLC2A4RG SLC2A4 regulator The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. 1580863 10825161,18249389,16368714,15489334,14630949,14625278,12477932,11780052,11752456,8889548 56731 NM_020062,AL121845,CH471077,AB044777,AB044786,AB052777,AF249267,AV659783,BC001402,BC017446,BC028349,BC052306,BM983611,CR592410,CR626338 NP_064446,CAC44024,EAW75210,EAW75211,EAW75212,BAE71373,BAD29732,BAD29733,AAF97516,AAH01402,AAH17446,AAH28349,AAH52306,Q2PHL5,Q9NR83 Hs.435126 GDB:11507853 GEF|HDBP1|Si-1-2|Si-1-2-19 protein-coding 68456 SLC2A5 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 1580863 1634504,1695905,17577579,17251278,16803853,15489334,14757434,12820898,12554125,12477932,11840567,11247674,9691177,8037665,1550217 6518 NM_003039,AL158048,CH471130,U05344,U11843,AF451839,AF479408,AK289849,AK290398,BC001692,BC001820,BC035878,M55531 NP_003030,CAI23457,CAI23458,EAW71610,AAB60641,AAL87107,BAF82538,BAF83087,AAH01692,AAH01820,AAH35878,AAA52570,P22732,Q8IVB3,Q8TDC6,ABM83217,ABM86417 Hs.530003 GDB:119998 GLUT5 solute carrier family 2, member 5 protein-coding 1319599 SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6 Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM] 1580863 10970791,16303743,15489334,15164053,14702039,12554125,12477932,9373149,8125298 11182 NM_017585,AL593848,CH471090,AB209108,AJ011372,AK074836,AK074927,AK096630,AK222919,AK225106,BC013740,Y17803 NP_060055,CAI17252,CAI17253,CAI17254,CAI17255,EAW88092,EAW88093,EAW88094,BAD92345,CAB66155,BAC11235,BAC11297,BAD96639,AAH13740,CAB96996,Q59GK1,Q8NCC2,Q9UGQ3,ABM82439,ABM85630 Hs.244378 GDB:9957051 GLUT6|GLUT9|HSA011372 protein-coding 1344587 SLC2A7 solute carrier family 2 (facilitated glucose transporter), member 7 SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM] 16186102,15033637,11780753 155184 NM_207420,AL158048,CH471130,AY571960 NP_997303,CAI23459,EAW71607,EAW71608,AAS78590,Q6PXP3,AAI52831 Hs.531239 GDB:11507855 GLUT7 protein-coding 730862 SLC2A8 solute carrier family 2, (facilitated glucose transporter) member 8 70600,1580863 10671487,16723738,12554125,12477932,11845330,10821868 70600 29988 NM_014580,AL445222,CH471090,AB209112,AF289587,AJ245937,BC019043,CR625717,Y17801 NP_055395,CAH72916,CAH72917,CAH72918,CAH72919,CAH72920,CAH72921,CAH72922,CAH72923,CAH72924,EAW87660,EAW87661,EAW87662,EAW87663,EAW87664,BAD92349,AAL55771,CAB75702,AAH19043,CAB89809,Q59GJ7,Q5VVV3,Q5VVV4,Q5VVV5,Q5VVV9,Q5VVW5,Q8WUZ9,Q8WZ05,Q9NY64,ABM83835,ABM87159 Hs.179522 GDB:11504441 GLUT8|GLUTX1 protein-coding 1351405 SLC2A9 solute carrier family 2 (facilitated glucose transporter), member 9 This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 10860667,18487473,18398472,18327257,17997608,17710649,15489334,14739288,14702039,12554125,12477932,11991658,11739520,10970791,18327256,18179892 56606 NM_001001290,NM_020041,AC005674,AC098976,AC108199,CH471069,AF210317,AF421859,AK025887,AK096819,AL572022,BC018897,BC110414,BI821650,CD629819,CD629822 NP_001001290,NP_064425,AAY41052,EAW92681,EAW92682,EAW92683,AAF85942,AAL16939,AAH18897,AAI10415,Q4W5D1,Q8WV30,Q96P00,Q9NRM0,ABM82868,ABM86055 Hs.656895,Hs.677363 GDB:10796994 GLUT9|GLUTX protein-coding 1352870 SLC2AXP1 solute carrier family 2 (facilitated glucose transporter), pseudogene 1 11882521 399496 AC026626 pseudo 731339 SLC30A1 solute carrier family 30 (zinc transporter), member 1 1580863 18158319,17971500,17971132,16179263,15451416,14662799,12477932 7779 NM_021194,AC105275,AF048701,AF323590,CH471100,AA853540,AF364518,AI467909,AI621266,AW183618,BC121015,BC121016,BE744293,BF057194,CB990012,CF529684 NP_067017,AAD29840,AAG53405,EAW93412,AAK50854,AAI21016,AAI21017,Q0VAK9,Q96KD7,Q9Y6M5 Hs.519469 GDB:9757899 ZNT1|ZRC1 protein-coding 1604615 SLC30A10 solute carrier family 30, member 10 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A10, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 15154973,14702039,12477932 55532 NM_018713,AC093562,CH471100,AK090806,AK097467,AL359609,AY212919,BC036078,BC114619,BG564297 NP_061183,EAW93312,EAW93313,EAW93314,CAB94880,AAP44332,AAH36078,AAI14620,Q1RMY7,Q6XR72,AAI46292 Hs.284450,Hs.679909 DKFZp547M236|ZNT10|ZNT8|ZnT-10 protein-coding 733874 SLC30A2 solute carrier family 30 (zinc transporter), member 2 1580863 17971500,17349999,17065149,14702039,12477932,8617223 7780 NM_032513,NM_001004434,AL391650,CH471059,AF370409,AK023491,AK023504,AK094027,BC006251,BF509598,CR592804 NP_115902,NP_001004434,CAI17131,CAI17132,EAX07849,EAX07850,AAQ15245,AAH06251,Q71RC8,Q9BRI3 Hs.143545 GDB:9758076 FLJ36708|MGC11303|PP12488|ZNT2|ZnT-2 protein-coding 1346114 SLC30A3 solute carrier family 30 (zinc transporter), member 3 1580863 8962159,17971500,15154973,14662799,14657250,12477932 7781 NM_003459,AC013413,CH471053,AK127096,AK127300,AL043136,BC028358,CR605101,U76010 NP_003450,AAY24294,EAX00610,EAX00611,BAC86827,BAC86924,AAH28358,AAB39732,Q6ZSM4,Q6ZSW9,Q8TC03,Q99726,ABM83041,ABM86236 Hs.467981 GDB:9758314 ZNT3 protein-coding 1343503 SLC30A4 solute carrier family 30 (zinc transporter), member 4 Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM] 1580863 9354792,17971500,16580781,15187159,14968438,12955079,12743795,12477932,11988082,11935329,11686514,11511923,10600821 7782 NM_013309,AC025580,CH471082,AA485220,AF025409,AK290874,AY029482,BC026089 NP_037441,EAW77316,EAW77317,AAB82561,BAF83563,AAK40257,AAH26089,O14863,Q8TC39,Q96JT7,ABM83047,ABW03348 Hs.162989 GDB:9758269 ZNT4 protein-coding 1315825 SLC30A5 solute carrier family 30 (zinc transporter), member 5 1580628 11937503,10330022,17971500,15276077,14702039,12975309,12477932,12095919,11904301 1580628 64924 CH471137,AF212235,AF461760,AK022558,AK022818,AK292925,AL833716,AY089991,AY358505,BC000808,BC003411,BC008198,BC017441,BC130452,BC130454,BX537394,CR592705,CR595184,NM_024055,NM_022902,AC010273 EAW51307,EAW51308,EAW51309,EAW51310,AAK14921,AAL96437,BAB14098,BAB14258,BAF85614,AAM09099,AAQ88869,AAH00808,AAH03411,AAH08198,AAH17441,AAI30453,AAI30455,CAD97636,Q8TAD4,Q9BTR6,Q9BVY8,NP_076960,NP_075053,Q9BY48,Q9H9X0,AAI48651,AAI53203 Hs.631975 FLJ12496|FLJ12756|MGC5499|ZNT5|ZNTL1|ZTL1|ZnT-5 protein-coding 1319489 SLC30A6 solute carrier family 30 (zinc transporter), member 6 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A6, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 1580863 17971500,16580781,15154973,14702039,12477932,11997387 55676 NM_017964,AL121653,AL121658,CH471053,AF173387,AK055663,AK096672,AK127716,AL832755,BC032525,BC066903,EF560719,EF560726 NP_060434,EAX00456,EAX00457,EAX00458,EAX00459,EAX00460,AAQ13628,BAB70980,AAH32525,AAH66903,ABQ59029,ABQ59036,Q6NXT4,Q7Z4D6,Q9NWI4 Hs.23248 FLJ31101|MGC45055|MST103|MSTP103|ZNT6 protein-coding 1317319 SLC30A7 solute carrier family 30 (zinc transporter), member 7 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 1580863 17353931,17971500,16381901,15489336,15276077,15154973,14702039,12477932,12446736,11256614,11230166,11076863 148867 NM_133496,AC104506,AL732465,BX640630,CH471097,AF233345,AF529197,AK023089,AY094606,BC064692,BX537375,BX648884,CR936806 NP_598003,CAI13301,EAW72942,EAW72943,AAL83716,AAO17324,AAM21969,AAH64692,CAD97617,Q8NEW0,CAL37805 Hs.533903 DKFZp686M0368|ZNT7|ZnT-7|ZnTL2 protein-coding 1317968 SLC30A8 solute carrier family 30 (zinc transporter), member 8 Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A8, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM] 1580863 15331542,16984975,18477659,18469204,18461161,18437351,18426861,18400535,18324385,18264689,18252897,18210030,18162509,18162508,17971500,17971426,17942684,17928989,17804762,17786204,17657472,17463249,17463248,17463246,17293876,16381901,16158222,15489336,15489334,15154973,12477932,11230166,11076863 169026 NM_173851,AC027419,AC084114,CH471060,AL713790,AY117411,BC015845,BC126446,BU949895,EF560713 NP_776250,EAW91968,CAD28545,AAM80562,ABQ59023,Q0JTH7,Q8IWU4,CAL37399,CAL38185 Hs.532270 ZNT8|ZnT-8 protein-coding 1315097 SLC30A9 solute carrier family 30 (zinc transporter), member 9 1580863 10409434,17971500,12477932,11906820,9373149,8125298 10463 AC106052,AC113151,CH471069,AA427879,AF006621,AK225470,AY319413,AY594282,BC000240,BC007732,BC016949,BC022981,NM_006345,BG323207,CR625604 NP_006336,AAY40966,EAW92996,EAW92997,EAW92998,EAW92999,AAB87763,AAP83846,AAT02479,AAH07732,AAH16949,AAH22981,Q6PML9 Hs.479634 C4orf1|GAC63|HUEL|ZNT9 protein-coding 735683 SLC31A1 solute carrier family 31 (copper transporters), member 1 Copper is an element essential for life, but excessive copper can be toxic or even lethal to the cell. Therefore, cells have developed sophisticated ways to maintain a critical copper balance, with the intake, export, and intracellular compartmentalization or buffering of copper strictly regulated. The 2 related genes ATP7A (MIM 300011) and ATP7B (MIM 606882), responsible for the human diseases Menkes syndrome (MIM 309400) and Wilson disease (MIM 277900), respectively, are involved in copper export. In S. cerevisiae, the copper uptake genes CTR1, CTR2, and CTR3 have been identified, and in human the CTR1 and CTR2 (MIM 603088) genes have been identified.[supplied by OMIM] 1580863 9207117,17627945,16501047,16356544,15634665,12466020,12177073,12034741,12023893,11983704,15489334,15326162,14976198,14702039,12501239,12477932,11734551,11054564,9373149,8125298,16189514 1317 NM_001859,AL449305,CH471090,AK056926,AK129613,AK222866,AK292511,AL831843,BC004315,BC013611,BC061924,CR593760,CR605076,U83460 NP_001850,CAI10965,CAI10966,EAW87357,EAW87358,EAW87359,BAD96586,BAF85200,CAD38549,AAH04315,AAH13611,AAH61924,AAB66306,O15431,Q5T1M3,Q6P708,Q9BT69,ABM82379,ABM85558 Hs.532315 GDB:9114494 COPT1|CTR1|MGC75487|hCTR1 protein-coding 1351746 SLC31A1P solute carrier family 31 (copper transporters), member 1 pseudogene 11054564 117151 AF238997 GDB:10029294 1317461 SLC31A2 solute carrier family 31 (copper transporters), member 2 1580863 9207117,17944601,17617060,15489334,15342556,12477932,14722252 1318 NM_001860,AL449105,CH471090,AK057903,AK131071,AK131546,BC026252,BP341248,CN480022,CR407615,CR592959,CR593518,CR594089,CR597160,CR597706,CR600675,CR609395,CR609858,CR613559,CR620050,CR620060,CR621630,CR622921,CR623857,CR626490,U83461 NP_001851,CAO78192,EAW87355,BAD18680,AAH26252,CAG28543,AAB66307,O15432,Q4VX87,Q53X94,Q6ZMP5,ABM82295,ABM85475 Hs.24030 GDB:9114795 COPT2|CTR2|hCTR2 protein-coding 1346344 SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. 17471287,15489334,14702039,12806177,12477932,12115694,12031963,11780052,9921901,9349821 140679 NM_080552,AL133519,CH471077,AF064848,AK055051,AK091079,AY044836,BC036458,BC053582,BI488536 NP_542119,CAC15529,EAW76012,BAB70846,AAK98782,AAH36458,AAH53582,Q9H598 Hs.179080 GDB:9958693 VGAT|VIAAT protein-coding 732825 SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 The encoded protein is required for the formation of O-acetylated (Ac) gangliosides. It is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Studies indicate that the protein is localized to the cytoplasm. 1580863 9096318,15489334,12739170,12477932 9197 BC014416,CR622424,D88152,NM_004733,AC104472,CH471052 EAW78743,EAW78744,AAH14416,BAA20072,O00400,ABM82633,ABM85811,NP_004724 Hs.478031 ACATN|AT-1|AT1 acetyl-coa transporter protein-coding 733686 SLC34A1 solute carrier family 34 (sodium phosphate), member 1 730120,1580863 8327470,8693007,16955105,16688119,16105044,15613617,15504898,15342556,14702039,14694264,14672348,14558883,12952859,12674325,12477932,12324554,11880379,11099500,9683733,9210418,8188224 730120 6569 BC053349,BP275443,L13258,NM_003052,AC145098,AF058289,CH471195,D89927,U56684,U56692,U56694,AK096088,BC034756,BC035294,BC050385 AAH53349,AAA36354,Q05BP0,Q06495,Q6LCI0,Q6LCI1,Q6LCI3,Q7Z725,Q86VN6,Q8N8W2,NP_003043,EAW85007,EAW85008,EAW85009,EAW85010,AAD14856,AAD14864,AAD14866,BAC04699,AAH35294,AAH50385 Hs.936 GDB:230341 NAPI-3|NPT2|NPTIIa|SLC11|SLC17A2 solute carrier family 34, member 1 protein-coding 733113 SLC34A2 solute carrier family 34 (sodium phosphate), member 2 1580863 10329428,17095743,16960801,16344560,16303743,15458926,14702039,12477932,11880379,11171583,10610722 10568 NM_006424,AC092436,AF234245,CH471069,AF111856,AF146796,AK075015,AK075045,AK075046,AK292675,BC142704,BC146666,CA435368,DB201517 NP_006415,AAL55657,EAW92842,AAC98695,AAF31328,BAC11354,BAF85364,AAI42705,AAI46667,O95436 Hs.479372 GDB:9957668 FLJ90534|NAPI-3B|NAPI-IIb|NPTIIb protein-coding 1348656 SLC34A3 solute carrier family 34 (sodium phosphate), member 3 SLC34A3 contributes to the maintenance of inorganic phosphate (Pi) concentration at the kidney (Segawa et al., 2002 [PubMed 11880379]).[supplied by OMIM] 1299524,1580863 11880379,16358214,17968493,16955105,16358215,15504899,14702039,12477932,14531806 1299524 142680 NM_080877,BX255925,AB055000,AK095999,AL832449,BC029942 NP_543153,CAM24147,BAB83242,BAC04667,Q8N130 Hs.432442 FLJ38680|HHRH|NPTIIc protein-coding 1322776 SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1 The SLC35A1 gene encodes a CMP-sialic acid transporter located within the membrane of the Golgi apparatus. The transporter moves nucleotide sugars across the membrane for use in glycosylation reactions that take place within the Golgi department (Eckhardt et al., 1996 [PubMed 8755516]). For background information on the SLC35 family of nucleotide-sugar transporters, see SLC35A3 (MIM 605632).[supplied by OMIM] 1580863 9644260,16923816,16343442,15576474,15489334,14702039,14574404,12682060,12477932,9010752,8755516,8617505,8427599,964426 10559 NM_006416,AL049697,CH471051,AJ810302,AJ810303,AJ851888,AJ851889,AJ851890,AK127976,AL122119,BC008372,BC017807,CR618258,CR626359,D87969 NP_006407,CAB76857,EAW48599,CAH17780,CAH17781,CAH65468,CAH65469,CAH65470,CAH56397,AAH17807,BAA13522,P78382,Q5W1L6,Q5W1L7,Q5W1L8,Q5XKP4,Q659E4,Q6A0F2,Q6A0F3 Hs.423163 GDB:9957657 CMPST|CST|hCST|inactive protein-coding 1353471 SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 1580863 9010752,16189514,14702039,12925779,12477932,11389099,11279205,9399569,9373149,8889805,8128316,8125298 7355 NM_005660,NM_001042498,NM_001032289,AB042425,AF207550,CH471224,AK090730,AK225508,AK290284,AK292816,BC035747,CR450287,CR596762,CR603860,CR604809,D84454,D88146 NP_005651,NP_001035963,NP_001027460,BAA95614,BAA95615,EAW50731,EAW50732,EAW50733,EAW50734,BAC03509,BAF82973,BAF85505,AAH35747,CAG29283,BAA12673,BAA13545,P78381,Q6ICV6,Q8IV21,Q8NBD6 Hs.21899 GDB:454871 UGALT|UGAT|UGT|UGT1|UGT2|UGTL protein-coding 1318491 SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 1580863 10393322,16691598,12477932,8093218,3264072,3099781,2829950,1736542 23443 NM_012243,AC118553,CH471097,AB021981,AK024989,AK290573,BC005136,CR605935,CR749816 NP_036375,EAW72977,EAW72978,EAW72979,BAA77841,BAF83262,AAH05136,CAH18676,Q9BSB7,Q9Y2D2 Hs.448979 GDB:9956564 DKFZp781P1297 protein-coding 1348037 SLC35A4 solute carrier family 35, member A4 1580863 12782588,12477932 113829 NM_080670,AC011399,AC116353,CH471062,AF445025,AJ420598,AK122601,AK289378,AL833972,BC009906,CR614744 NP_542401,EAW62040,AAL38586,BAC85488,BAF82067,CAD38817,AAH09906,Q6ZWL2,Q8WYR7,Q96G79 Hs.406840 MGC2541 protein-coding 1344135 SLC35A5 solute carrier family 35, member A5 1580863 14702039,12975309,12477932 55032 NM_017945,AC048334,AC092692,CH471052,AK000737,AK001992,AK098839,AK172825,AL117531,AY358994,BC005207,BC010307,BC013046 NP_060415,EAW79666,EAW79667,BAA91350,BAD18792,CAH10717,AAQ89353,AAH05207,AAH10307,AAH13046,Q9BS91 Hs.237480 DKFZp434E102|FLJ11130|FLJ20730|FLJ25973 protein-coding 1351742 SLC35B1 solute carrier family 35, member B1 1580863 9010752,15489334,14702039,12477932,8617505,8076819 10237 NM_005827,AC015795,CH471109,AK098056,BC011888,BX641166,CR595746,CR600895,CR618351,CR623671,CR625983,CR626561,D87989 NP_005818,EAW94665,EAW94666,EAW94667,EAW94668,EAW94669,EAW94670,AAH11888,CAE46073,BAA13525,P78383,Q6MZG2,ABM84351,ABW03613 Hs.154073 UGTREL1 protein-coding 1349281 SLC35B2 solute carrier family 35, member B2 Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM] 1580863 12716889,12761501,17081983,16303743,15489334,14574404,12477932,9373149,8125298 347734 NM_178148,AL139392,CH471081,AB097021,AB097039,AB106538,AK075456,AK123749,AK223028,AY491520,BC016839,BC024288,CR592165,CR618400,CR618464,CR619109 NP_835361,CAI20100,CAI20101,EAX04261,BAC77374,BAC77392,BAC79117,BAC11631,BAD96748,AAS79661,AAH16839,AAH24288,Q8TB61,ABM84240,ABM87627,ABM87631,ABW03805 Hs.182885 PAPST1|SLL|UGTrel4 protein-coding 1316221 SLC35B3 solute carrier family 35, member B3 Sulfation of a variety of molecules, including glycoproteins, proteoglycans, and glycolipids, requires 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS), a high-energy form of the universal sulfate donor. SLC35B3 translocates PAPS from the cytosol or nucleus, where it is synthesized, to the Golgi lumen for use (Kamiyama et al., 2006 [PubMed 16492677]).[supplied by OMIM] 1580863 16793546,16492677,15489334,14574404,12477932,10810093 51000 NM_015948,AL355815,CH471087,AB231931,AF132953,BC006973,BX538271,BX641086,BX647208,BX648022,CR605449,CR626516 NP_057032,CAC19504,EAW55233,EAW55234,EAW55235,EAW55236,EAW55237,EAW55238,EAW55239,EAW55240,BAE93015,AAD27728,AAH06973,CAD98078,CAE46041,Q9H1N7 Hs.285847 C6orf196|CGI-19|PAPST2 protein-coding 1319077 SLC35B4 solute carrier family 35, member B4 Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM] 1580863 15911612,16965264,16341674,16303743,15489334,14702039,12690205,12477932,9373149,8125298 84912 AC008154,CH236950,CH471070,CS051163,AB052892,AI274082,AI695174,AI948585,AJ315497,AJ315498,AJ971941,AK027603,AK027726,AK056475,AK075368,NM_032826,AK222874,BC008413,BE894120,BI756619,BM458284,BM800938,BM806557,BQ082178,BX328982,BX646379 NP_116215,EAL24071,EAW83809,EAW83810,EAW83811,EAW83812,CAI72077,BAB61040,CAC84567,CAC84568,CAI98963,BAB55225,BAB55325,BAC11573,BAD96594,AAH08413,Q969S0 Hs.490181 FLJ14697|YEA|YEA4 protein-coding 1319816 SLC35C1 solute carrier family 35, member C1 1599002,1580863 17884843,16455955,15489334,14702039,12477932,12406889,11326280,11326279,9373149,8125298 1599002 55343 NM_018389,AC044839,CH471064,AF323970,AF326199,AK000527,AK002182,AK027394,AK027747,AK074929,AK225428,BC001427,CR607230 NP_060859,EAW68031,EAW68032,EAW68033,AAK50397,AAK51705,BAA92126,BAB55080,BAB55339,AAH01427,Q96A29,Q96K20 Hs.12211 FLJ11320|FLJ14841|FUCT1 protein-coding 1322607 SLC35C2 solute carrier family 35, member C2 Oxygenation levels play an important role in the regulation of cellular invasiveness which occurs during early implantation when the trophoblast cells invade the uterus as well as during tumour progression and metastasis. This gene, which is regulated by oxygen tension, is induced in hypoxic trophoblast cells and is overexpressed in ovarian cancer. Two protein isoforms are encoded by transcript variants of this gene. 15489334,14702039,12477932,12461647,11934252,11856893,11780052,11549316,11247664,10810093,9373149,8125298 51006 NM_173179,NM_015945,NM_173073,AL133227,CH471077,AF132949,AF455052,AK094358,AK222928,AW275152,BC014191,BC021138,BC025277,BM846744,CR590584,CR593672,CR596090,CR598943,CR605819,CR609774,CR610991,CR612071,CR612094,CR616219 NP_775271,NP_057029,NP_775096,CAC00659,CAI40552,CAI40553,CAI40554,CAI40555,EAW75747,EAW75748,EAW75749,EAW75750,EAW75751,EAW75752,EAW75753,AAD27724,AAL59605,BAD96648,AAH14191,AAH21138,AAH25277,Q53GK3,Q5JW02,Q5JW05,Q9NQQ7,ABM82820,ABM87836 Hs.655501 BA394O2.1|C20orf5|CGI-15|FLJ37039|MGC20633|MGC32079|MGC39183|OVCOV1 protein-coding 1320404 SLC35D1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. SLC35D1 is a nucleotide sugar transporter that localizes to the ER and transports both UDP-glucuronic acid and UDP-N-acetylgalactosamine (Muraoka et al., 2001 [PubMed 11322953]).[supplied by OMIM] 1580863 17952091,16710414,15489334,12477932,11322953,9039502 23169 NM_015139,AL133320,CH471059,AB044343,AK289800,BC093786,BC112031,D87449 NP_055954,CAB92090,EAX06504,BAB18586,BAF82489,AAH93786,AAI12032,BAA13390,Q9NTN3 Hs.213642 KIAA0260|MGC138236|UGTREL7 protein-coding 1319900 SLC35D2 solute carrier family 35, member D2 Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM] 1580863 9927678,15607426,15082721,12759756,12477932 11046 NM_007001,AL160269,CH471174,AB106537,AB122077,AJ005866,AK024841,BC009413,BC015146,BC100278,BC113579,CR595736,CR596006,CR596054,CR597058,CR601920,CR605179,CR614216,CR615006 NP_008932,CAH71613,CAH71614,EAW92646,EAW92647,BAD14396,BAC99016,CAA06743,AAH09413,AAI00279,AAI13580,Q5VZJ2,Q76EJ3 Hs.654897 HFRC1|MGC117215|MGC142139|SQV7L|UGTrel8|hfrc protein-coding 1319766 SLC35D3 solute carrier family 35, member D3 12477932 340146 NM_001008783,AL365223,CH471051,BC067217,BC087842 NP_001008783,CAI15712,EAW47939,AAH67217,AAH87842,Q5M8T2 Hs.369703 FRCL1|MGC102873|bA55K22.3 protein-coding 1319908 SLC35E1 solute carrier family 35, member E1 1580863 16303743,15489334,14702039,12477932 79939 NM_024881,AC008764,CH471106,AK024313,AK027699,AK027850,AK075355,AL080085,BC007731,BC014557,BC062562,BU619655,BX640756,CR457326 NP_079157,EAW84550,EAW84551,EAW84552,EAW84553,BAB14879,BAB55306,BAB55410,BAC11565,AAH14557,AAH62562,CAE45863,CAG33607,Q96K37,Q9H7U6 Hs.620596 DKFZp564G0462|FLJ14251|FLJ36689|MGC44954 protein-coding 1319214 SLC35E2 solute carrier family 35, member E2 12477932,9455484 9906 NM_182838,AL031282,BC101666,BC110653,BC112289,CR591109,CR936618,AL691432,AB007916,AK125619,AL049665,BC010500,BC062371,BC092507 NP_878258,AAI01667,AAI10654,AAI12290,CAI56761,Q5CZA4,Q5QPR6,Q5QPR8,Q5QPR9,CAI20037,CAI20038,BAA32292,CAB41241,AAH92507 Hs.654632,Hs.655255,Hs.655256 DKFZp686M0869|KIAA0447|MGC104754|MGC117254|MGC126715|MGC138494 protein-coding 1352847 SLC35E3 solute carrier family 35, member E3 12975309,12477932 55508 NM_018656,AC124890,CH471054,AA491309,AF148713,AK289645,AY358943,BC008412,BC021103,BC030504,BC049192,BE540822,BF971234,W00476 NP_061126,EAW97196,EAW97197,EAW97198,AAF73127,BAF82334,AAQ89302,AAH08412,AAH21103,AAH30504,AAH49192,Q7Z769 Hs.506011 BLOV1 protein-coding 1602959 SLC35E4 solute carrier family 35, member E4 12477932,15461802 339665 NM_001001479,AC005006,CH471095,BC040191,BC093099,BC107119,CR456351,CR614052 NP_001001479,EAW59912,AAH40191,AAH93099,AAI07120,CAG30237,Q6ICL7,CAK54492,CAK54791 Hs.660384 MGC129826 protein-coding 1353208 SLC35F1 solute carrier family 35, member F1 14702039,12477932 222553 NM_001029858,AL133379,AL136478,AL449196,AL450405,AL590621,CH471051,Z95326,AK092207,AK128717,BC028615,BC036493,BC114925,BX640761 NP_001025029,CAI16177,EAW48199,EAW48200,CAI20271,AAH28615,AAH36493,AAI14926,CAE45867,Q5T1Q4 Hs.654841 C6orf169|FLJ13018|dJ230I3.1 protein-coding 1344599 SLC35F2 solute carrier family 35, member F2 14702039,12477932,9119394 54733 NM_017515,AP001024,CH471065,AK023080,AK128062,AY078178,BC039195,BC048302,CR595056,X99961,AL833969 NP_059985,EAW67095,EAW67096,EAW67097,EAW67098,EAW67099,BAB14394,BAC87256,AAL82572,AAH39195,AAH48302,CAA68226,Q8IXU6,Q8TE03,CAI46204 Hs.524014 DKFZp667H1615|FLJ13018|HSNOV1 protein-coding 1347980 SLC35F3 solute carrier family 35, member F3 1580863 14702039,12477932 148641 NM_173508,AL122008,AL672045,AL713868,BX005090,CH471098,AK095031,BC037878 NP_775779,CAI22849,CAI22850,EAW69991,BAC04479,AAH37878,Q8IY50 Hs.158748 FLJ37712 protein-coding 1351439 SLC35F4 solute carrier family 35, member F4 12477932 341880 NM_001080455,AL136520,AL161804,BC101318,BC101319,BC101320,BC101321 NP_001073924,AAI01319,AAI01321,AAI01322,A4IF30 Hs.28280 C14orf36|FLJ37712|c14_5373 protein-coding 1317716 SLC35F5 solute carrier family 35, member F5 1580863 12975309,12477932 80255 NM_025181,AC017074,CH471103,AF529364,AK024666,AK025657,AY358620,BC018537,BC050096,CR615423 NP_079457,AAY14808,EAW95174,EAW95175,EAW95176,EAW95177,AAQ09598,BAB14954,BAB15206,AAQ88983,AAH18537,Q8WV83 Hs.632527 FLJ22004 protein-coding 736301 SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. 633316,1580863 11256614,17050537,16381901,16331283,15754324,15521011,15489336,15058382,14702039,12809675,12598615,12527723,11959859,11390972,11230166,11076863 633316 206358 NM_078483,AC034205,CH471062,AF516142,AK000729,AK025102,AK057340,AL833703,AY162213,AY227111,AY227112,AY227113,BC136437,BK001052,BM787446,BX537963 NP_510968,EAW61674,EAW61675,EAW61676,EAW61677,AAP47194,BAB71435,AAO11787,AAO37091,AAO37092,AAO37093,AAI36438,DAA01126,CAD97927,Q0JSB3,Q1LZ56,Q7Z2H8,Q86YK4,CAL38601,AAI46686 Hs.269004 GDB:11510815 LYAAT1|PAT1|TRAMD3 ysosomal amino acid transporter 1 protein-coding 1354285 SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2 15058382,14600155,12809675,12477932,11959859 153201 NM_181776,AC008385,CH471062,AK122630,AY162214,AY228364,BC101100,BC101101,BC101102,BC101103,BX538285 NP_861441,EAW61678,BAC85496,AAO11788,AAO74832,AAI01101,AAI01102,AAI01103,AAI01104,Q495M3 Hs.483877 FLJ16051|MGC119658|MGC119660|PAT2|TRAMD1 protein-coding 1319236 SLC36A3 solute carrier family 36 (proton/amino acid symporter), member 3 15058382,12809675,12477932 285641 NM_181774,AC008385,CH471062,AK127978,AK131483,AY162215,AY228365,BC101092,BC101093,BC101094,BC101095 NP_861439,EAW61679,BAC87215,BAD18628,AAO11789,AAI01093,AAI01094,AAI01095,AAI01096,Q495N2 Hs.132482 FLJ16658|MGC119638|MGC119639|MGC119641|PAT3|TRAMD2|tramdorin2 protein-coding 1323033 SLC36A4 solute carrier family 36 (proton/amino acid symporter), member 4 14702039,12477932 120103 AK096251,AY162216,BC047374,NM_152313,AP003072,CH471065,AJ295983 CAC82496,BAC04737,AAO11790,AAH47374,Q6YBV0,NP_689526,EAW66895,EAW66896,EAW66897 Hs.148766 FLJ38932|PAT4 protein-coding 1318445 SLC37A1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 SLC37A1, a member of the sugar-phosphate transport family, transports glycerol-3-phosphate (G3P) between cellular compartments for its utilization in several compartment-specific biochemical pathways.[supplied by OMIM] 1580863 15862967,11112347,10830953,16009131 54020 NM_018964,AP001625,CH471079,AF311320,AJ269529,AJ277912,AJ277913,AK025993,AL355683,AW466890,BC042139,BI912541 NP_061837,EAX09552,EAX09553,AAG29853,CAB87248,CAB91985,CAB91986,P57057,AAI48369,AAI52998 Hs.547009 GDB:10796442 FLJ22340|G3PP protein-coding 1313712 SLC37A2 solute carrier family 37 (glycerol-3-phosphate transporter), member 2 12811562,12477932 219855 NM_198277,AP001007,AP003172,CH471065,AF318322,AK074100,AK074207,AK290314,BC051314,BC062990 AAH62990,Q8TED4,Q8WYX4,NP_938018,EAW67619,EAW67620,EAW67621,EAW67622,AAL55829,BAB84926,BAB85016,BAF83003,AAH51314 Hs.352661 FLJ00171|MGC71430|pp11662 protein-coding 1321198 SLC37A3 solute carrier family 37 (glycerol-3-phosphate transporter), member 3 12811562,12690205,12477932,11230166,9847074 84255 NM_032295,NM_207113,AC093087,CH236950,CH471070,CQ834428,AK074823,AK126589,AL136583,BC028380,BC046567,CD101739,CR614619,CR626251 EAW83945,NP_115671,NP_996996,AAQ93361,EAL24030,EAL24031,EAW83943,EAW83944,EAW83946,EAW83947,CAH05429,BAC11231,CAB66518,AAH28380,AAH46567,Q8NCC5 Hs.446021 MGC32939 protein-coding 1351082 SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 1599000,1625641 9463334,12560945,9428641,212064,18267120,17460777,17354259,16777101,16435186,16344560,15906092,15669677,15489334,15260472,15059622,12477932,12409273,11949931,11071391,11032333,10931421,10923042,10874322,10518030,10482962,10482875,10323254,10318794,10026167,10023055,9925924,9856496,9822626,9781688,9758626,9675154,9598717 1599000,1625641 2542 AF078163,AF097831,AF116864,AP003392,CH471065,NM_001467,Y17864,AB209026,AF110819,AF110820,AF110821,AF110822,AF111852,AK289642,AY423732,BC002400,BC003589,BC014663,BC015650,BC064563,CR456733,CR594127,CR606876,CR613282,CR624130,DA485567,Y15409 NP_001458,AAC72916,AAD19898,AAD13111,EAW67432,EAW67433,EAW67434,EAW67435,EAW67436,EAW67437,EAW67438,EAW67439,CAA76898,BAD92263,AAF37735,AAF37736,AAF16691,BAF82331,AAS00495,AAH02400,AAH03589,AAH14663,AAH15650,AAH64563,CAG33014,CAA75608,O43826,Q59GT3,Q5J7V4,Q6IBR9 Hs.132760 G6PT1|G6PT2|G6PT3|GSD1b|GSD1c|GSD1d|MGC15729|PRO0685|TRG19 protein-coding 735316 SLC38A1 solute carrier family 38, member 1 Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM] 10891391,17549407,16344560,16303743,15054072,14702039,12477932,11325958,9373149,8125298 81539 BX647547,BX648495,BX648676,CR594705,CR595454,DB229647,NM_030674,NM_001077484,AC016254,AC025031,CH471111,AF247166,AF271070,AK024263,AK025900,AK027825,AK056670,AK074758,AK074797,AK074851,AK074949,AK130314,AK225639,AK225778,BC010620 AAH10620,Q8NCD8,Q9H2H9,ABM81943,ABW03351,NP_109599,NP_001070952,EAW57895,EAW57896,EAW57897,EAW57898,EAW57899,AAG44546,AAG39354,BAB55394,BAC11186,BAC11215,BAC11310 Hs.709304 GDB:11508477 ATA1|NAT2|SAT1|SNAT1 protein-coding 1601937 SLC38A10 solute carrier family 38, member 10 14702039,12477932 124565 NM_001037984,NM_138570,AC027601,CH471099,AF086389,AI476273,AK093037,BC011702,BC014156,BC014642,BC020925,BI194553,BQ642219,BU552914,CA416101 NP_001033073,NP_612637,EAW89641,EAW89642,EAW89643,BAC04027,AAH14642,AAH20925,Q8WW39,Q9HBR0 Hs.352240 FLJ35718|MGC15523|PP1744 protein-coding 1605863 SLC38A11 solute carrier family 38, member 11 14702039,12477932 151258 NM_173512,AC019197,CH471058,AK097141,BC125156,BC125157 NP_775783,AAY14946,EAX11337,BAC04962,AAI25158,Q08AI6 Hs.658702 AVT2|FLJ39822|MGC150450 protein-coding 736694 SLC38A2 solute carrier family 38, member 2 68920,1580863 17237199,16621896,16621798,16616430,16445384,16125834,15951569,15922329,15581851,14702039,14623874,12477932,12054432,10930503,10747860,10718198 68920 54407 NM_018976,AC025031,CH471111,AB037803,AF259799,AF298897,AJ344099,AK001700,AK172784,AK291644,BC016909,BC029379,BC040342,CR457267,CR595332,CR606904 NP_061849,EAW57900,EAW57901,EAW57902,BAA92620,AAK38510,AAG24618,CAC51434,BAA91846,BAD18765,BAF84333,AAH29379,AAH40342,CAG33548,Q8NHT5,Q96QD8,Q9P1K8,ABM82727,ABM85911 Hs.221847 GDB:11504381 ATA2|KIAA1382|PRO1068|SAT2|SNAT2 protein-coding 730997 SLC38A3 solute carrier family 38, member 3 634178,1580863 10823827,16641997,16432833,16381901,15489336,15489334,15342556,15094455,12788082,12477932,11256614,11230166,11085536,11076863,10619430 634178 10991 NM_006841,AC002077,CH471055,AF244548,BC042875,BP362985,BX537382,CR456970,U49082 NP_006832,EAW65049,EAW65050,AAG15313,AAH42875,CAD97624,CAG33251,AAB47236,Q0JSU4,Q0JV30,Q99624,CAL37630,CAL38420 Hs.76460 GDB:9959038 G17|NAT1|SN1 protein-coding 1347009 SLC38A4 solute carrier family 38, member 4 SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM] 1580863 16148032,15489334,14702039,12845534,12477932,11414754,11342143 55089 NM_018018,AC008014,AC080136,CH471111,AB055003,AF193836,AF305814,AK001053,AK291168,BC069819,BC101827,BC104913 NP_060488,EAW57917,EAW57918,EAW57919,EAW57920,BAB84090,AAK71508,AAK43528,BAA91481,BAF83857,AAH69819,AAI01828,AAI04914,Q969I6,Q9NWA2 Hs.446077 GDB:11507859 ATA3|FLJ10191|MGC126876|NAT3|PAAT protein-coding 730905 SLC38A5 solute carrier family 38, member 5 System N amino acid transporters, such as SLC38A5, mediate Na(+)-coupled transport of neutral amino acids, in particular glutamine, asparagine, and histidine (Nakanishi et al., 2001 [PubMed 11243884]).[supplied by OMIM] 17333282,14702039,12477932,11243884 92745 NM_033518,CH471224,AF276889,AF318358,AK094788,BC019246,BC027721 NP_277053,EAW50785,EAW50786,EAW50787,EAW50788,EAW50789,EAW50790,AAK61856,AAL55865,AAH19246,AAH27721,Q8WUX1,ABM83986,ABM87311 Hs.195155 GDB:11507861 JM24|SN2|pp7194 protein-coding 1321172 SLC38A6 solute carrier family 38, member 6 12477932,9110174,8619474 145389 NM_153811,AL160234,AL160236,CH471061,AF070578,AF543422,BC050349,BC064429,BC110378,BX248072,BX648332 NP_722518,EAW80793,EAW80794,EAW80795,EAW80796,EAW80797,EAW80798,AAN47144,AAI10379,CAD62361,Q8IZM9 Hs.200738 MGC102697|NAT-1 protein-coding 1602480 SLC38A7 solute carrier family 38, member 7 14702039,12477932,9373149 55238 NM_018231,AC010287,CH471092,AK001677,AK022786,AK222932,BC001961,BC063399,CR457236,CR596148 NP_060701,EAW82985,EAW82986,EAW82987,BAA91830,BAB14244,BAD96652,AAH01961,CAG33517,Q9NVC3 Hs.10499 FLJ10815|FLJ12724 protein-coding 2290191 SLC38A8 solute carrier family 38, member 8 11181995 146167 NM_001080442,AC040169,CH471114 NP_001073911,EAW95507,A6NNN8 Hs.461575 protein-coding 1604225 SLC38A9 solute carrier family 38, member 9 16303743,14702039,12477932 153129 BX641065,CR608660,NM_173514,AC008784,AC016632,CH471123,CQ783277,AK075190,AK122957,AK127988,BC036232,BC045589,BC066891,BC101361,BC101362 CAE46032,Q8NBW4,AAI01363,NP_775785,EAW54925,EAW54926,EAW54927,EAW54928,CAF86482,BAC11460,AAH66891 Hs.649685 FLJ46104|FLJ90709|MGC120544 protein-coding 1313154 SLC39A1 solute carrier family 39 (zinc transporter), member 1 10610721,17635580,16303743,16203195,16153295,15489334,14702039,14525987,12888280,12477932,11696349,11301334,10810093,10681536 27173 AJ243650,AL358472,CH471121,CQ783764,AF132942,AF151829,AJ243649,NM_014437,AJ271671,AK074943,AK075257,BC002563,BC003152,BC007886,BC014303,BC047288,BC069261,CR457217,CR592329,CR593791,CR594039,CR595892,CR599760,CR602803,CR603018,CR605081,CR608696,CR613217,CR613985,CR614937,CR615172,CR615763,CR616009,CR616553,CR616913,CR618422,CR621955,CR624762 NP_055252,CAB59980,CAI14019,CAI14020,CAI14021,CAI14022,EAW53259,EAW53261,EAW53264,EAW53265,EAW53267,CAF86850,AAD27717,AAD34066,CAB59979,CAB82784,BAC11502,AAH02563,AAH03152,AAH07886,AAH14303,CAG33498,Q5T4K1,Q5T4K2,Q5T4K3,Q5T4K4,Q6IAD8,Q9NY26,ABM84545,ABM86276 Hs.7854 GDB:10796097 ZIP1|ZIRTL protein-coding 1316445 SLC39A10 solute carrier family 39 (zinc transporter), member 10 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 12659941,12477932,10574462 57181 NM_001127257,NM_020342,AC013274,CH471063,AB033091,AI693720,AK074996,AK291241,AL050294,BC010371,BC029413,BC047493,BC073909,BC101516,BC112223,BX490118,CR599732,CR749813 NP_065075,NP_001120729,EAW70116,EAW70117,EAW70118,EAW70119,BAA86579,BAC11343,BAF83930,CAB43393,AAH29413,AAH73909,AAI01517,AAI12224,CAH18673,Q8NC35,Q9ULF5 Hs.650158 DKFZp781L10106|LZT-Hs2|MGC126565|MGC138428 protein-coding 1323721 SLC39A11 solute carrier family 39 (metal ion transporter), member 11 1580863 14702039,12477932,11707075,11591653 201266 NM_139177,AC011120,AC025198,AC080037,AC138336,CH471099,AF331643,AK095227,BC035631,CR613204 NP_631916,EAW89107,EAW89108,EAW89109,AAL32175,BAC04504,AAH35631,Q8N1S5 Hs.221127 C17orf26 protein-coding 1319582 SLC39A12 solute carrier family 39 (zinc transporter), member 12 16311021,14702039,12659941,12477932 221074 BC094700,BC117323,NM_152725,AC069023,AL360231,AL590111,CH471072,AK055061,BC035118,BC047635,BC065917 AAH94700,AAI17324,Q504Y0,NP_689938,CAH70123,CAH70124,CAI15903,CAI15904,EAW86199,EAW86200,EAW86201,BAB70848,AAH35118,AAH47635,AAH65917 Hs.350895 FLJ30499|MGC43205|MGC51099|bA570F3.1 protein-coding 1312289 SLC39A13 solute carrier family 39 (zinc transporter), member 13 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A13 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 12659941,12477932 91252 NM_152264,AC090559,CH471064,AK098651,AL133581,BC008853,BC019016,BX647491,CR601409,CR605826 NP_689477,EAW67917,EAW67918,EAW67919,EAW67920,EAW67921,EAW67922,EAW67923,BAC05365,CAH56389,AAH08853,AAH19016,Q96H72,ABM83174,ABW03478 Hs.523664 FLJ25785 protein-coding 1315975 SLC39A14 solute carrier family 39 (zinc transporter), member 14 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 15863613,15642354,12659941,12477932,9391139,7584044 23516 NM_015359,AC087854,AC105910,CH471080,AF026940,AK172810,BC000068,BC015770,BX648538,CR590468,CR595575,CR612888,D31887 NP_056174,EAW63680,EAW63681,EAW63682,EAW63683,BAD18780,AAH15770,BAA06685,Q15043 Hs.491232 KIAA0062|LZT-Hs4|ZIP14|cig19 protein-coding 1314826 SLC39A2 solute carrier family 39 (zinc transporter), member 2 1580863 10681536,18328005,17550612,16344560,15489334,15342556,14525987,12477932,7751801,12431995,10477520 29986 NM_014579,AL161668,AL355922,CH471078,AF186081,AY029483,BC096723,BC098254,BC098274,BC110057,BP359281,CR621267,D83039,DA871745 NP_055394,EAW66431,AAF35832,AAK40258,AAH96723,AAH98254,AAI10058,BAA94313,Q4QQI3,Q4QQJ1,Q9NP94,Q9UD20 Hs.175783 GDB:11507863 MGC119190|ZIP2 protein-coding 1322010 SLC39A3 solute carrier family 39 (zinc transporter), member 3 1580863 17550612,15054103,14702039,14525987,12477932,10681536,9110174,8619474,12431995 29985 BC000815,BC005869,BC017009,BC020571,BG719479,BQ898834,CR591681,CR591971,CR598984,NM_144564,NM_213568,AC006538,CH471139,AF052125,AK002044,CR602071,CR618109 AAH00815,AAH05869,AAH20571,NP_653165,NP_998733,EAW69369,EAW69370,Q9BRY0 Hs.515046 GDB:11507865 ZIP3 protein-coding 1315470 SLC39A4 solute carrier family 39 (zinc transporter), member 4 This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The transmembrane protein is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica, a rare inherited defect in the absorption of dietary zinc. Multiple transcript variants encoding different isoforms have been found for this gene. 1599005 18328205,18003899,17202136,16682017,16344560,15489334,14709598,14702039,14612438,12801924,12787121,12659941,12477932,12068297,12032886 1599005 55630 BI765535,CR600637,DA837547,DA915781,NM_130849,NM_017767,AF205589,CH471162,CQ834282,AK000334,AK000489,AK000695,AK025537,AK056900,AK290563,BC001688,BC033807,BC062625 Q6P5W5,Q96MI3,Q9NX22,AAH62625,NP_570901,NP_060237,EAW82101,EAW82102,EAW82103,EAW82104,EAW82105,CAH05356,BAA91091,BAA91200,BAB15164,BAB71305,BAF83252,AAH01688 Hs.521934 GDB:11507177 AEZ|FLJ20327|MGC74741|ZIP4 protein-coding 1321159 SLC39A5 solute carrier family 39 (metal ion transporter), member 5 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A5 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 15489334,15322118,14702039,12839489,12659941,12477932 283375 NM_173596,AC073896,CH471054,AK172768,BC027884,CR592568 NP_775867,EAW96916,EAW96917,EAW96918,BAD18751,AAH27884,Q6ZMH5 Hs.591018 LZT-Hs7|MGC34778|ZIP5 protein-coding 1312236 SLC39A6 solute carrier family 39 (zinc transporter), member 6 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 17825787,15986450,15489334,15340161,12960427,12839489,12659941,12477932,11911440,2903103 25800 NM_012319,NM_001099406,AC091060,CH471088,CQ834422,BC008317,BC039498,BX336036,CA443894,DC369482,DC410860,DC414741,DR762943,U41060 NP_036451,NP_001092876,EAX01371,EAX01372,CAH05426,AAH08317,AAH39498,AAA96258,Q13433 Hs.79136 LIV-1 protein-coding 1344767 SLC39A7 solute carrier family 39 (zinc transporter), member 7 Zinc is an essential cofactor for more than 50 classes of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. Zinc cannot passively diffuse across cell membranes and requires specific transporters, such as SLC39A7, to enter the cytosol from both the extracellular environment and from intracellular storage compartments.[supplied by OMIM] 1580863 17353931,8812499,16344560,16083285,15705588,15489334,14574404,14525538,12839489,12477932,9373149,8125298,1855816 7922 CR597948,CR620514,CR622526,D82060,DA573310,DR158641,M58660,NM_006979,NM_001077516,AF117221,AL645940,AL662824,AL844527,CH471081,CR354565,CR759733,CR759786,CR936877,AK225282,AK225682,BC000645,CR592348 BAA11528,AAA63219,Q29984,Q92504,ABM82855,ABM86042,NP_008910,NP_001070984,AAD12305,CAI18067,CAI17615,CAI41839,EAX03680,EAX03681,CAQ11085,CAQ10301,CAQ08249,CAQ09067,AAH00645 Hs.631995 D6S115E|D6S2244E|H2-KE4|HKE4|KE4|RING5|ZIP7 protein-coding 1317894 SLC39A8 solute carrier family 39 (zinc transporter), member 8 Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A8 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM] 1580863 16083285,14702039,12839489,12659941,12504855,12477932 64116 NM_022154,AC098487,AP002023,CH471057,AB020969,AB020970,AB040120,AF193052,AK027652,AL049963,BC001320,BC012125,BI823248,CR624375 NP_071437,EAX06129,EAX06130,EAX06131,EAX06132,BAA96442,BAB21559,AAG22480,BAB55268,AAH01320,AAH12125,Q9C0K1,ABM83138,ABM86333 Hs.288034 BIGM103|LZT-Hs6 protein-coding 1322587 SLC39A9 solute carrier family 39 (zinc transporter), member 9 14702039,12975309,12477932,9373149,8125298 55334 NM_018375,AL157996,CH471061,AK002136,AK222547,AY358687,AY780789,BC047682,BC064383,CR604607 NP_060845,EAW80991,EAW80992,EAW80993,EAW80994,EAW80995,BAA92100,BAD96267,AAQ89050,AAV98359,AAH47682,AAH64383,Q9NUM3 Hs.432690 FLJ11274|MGC74989 protein-coding 1345624 SLC3A1 solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1600015,1580863 14561219,14702039,14531788,12820697,12477932,12372889,12239244,12234283,12167606,12060600,11748844,11458794,11318953,10799513,10588648,10574970,9373149,9186880,8663184,8486766,8125298,7789946,7686906,7575432,7573036,7568194,7539209,8054986,17010017,16358225,16138908,15913950,15818802,15818801,15818800,15815621,15691362,15635077,15489334,14991253 1600015 6519 NM_000341,AC013717,CH471053,U60819,AB033549,AK091932,AK092000,AK223146,AK289636,BC022386,BC093624,BC093626,DQ023512,DQ023513,DQ023514,DQ023515,DQ023516,DQ023517,L11696,M95548 NP_000332,AAX88955,EAX00278,EAX00279,AAB39829,BAB16841,BAD96866,BAF82325,AAH22386,AAH93624,AAH93626,AAY89643,AAY89644,AAY89645,AAY89646,AAY89647,AAY89648,AAA81778,AAA35500,Q07837,Q4J6B4,Q4J6B5,Q4J6B6,Q4J6B7,Q4J6B8,Q4J6B9,Q52M94,ABM82957,ABM86148 Hs.112916 GDB:202968 ATR1|CSNU1|D2H|FLJ34681|NBAT|RBAT protein-coding 735716 SLC3A2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein with an alpha amylase domain. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. It associates with integrins and mediates integrin-dependent signaling related to normal cell growth and tumorigenesis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 11507094,11742812,11696247,11435306,11406111,11311135,10574970,9878049,9829974,9751058,9373149,9110174,8938448,8619474,8125298,7204970,6190235,6187076,6177771,3782435,3480538,3265471,3265470,2416754,1358795,7561057,9403839,8922468,17353931,16189514,15782160,10673541,10506149,10631289,3036867,3476959,12493773,18054915,17724034,17611393,17558306,17451431,17081983,17081065,17023546,16785209,16344560,16335952,15713750,15625115,15556631,15489334,15485886,15458438,15274339,15178563,15146197,14702039,14527684,12925876,12754519,12740424,12716892,12531285,12477932,12270127,12235164,12181350,11840567,11749697 6520 NM_001012661,NM_002394,NM_001012662,NM_001012663,NM_001012664,NM_001013251,CR625807,CR625870,J02769,J02939,J03569,CB151304,CN302816,CR591236,CR594426,CR596156,CR599471,CR599523,CR603627,CR603922,CR604303,CR604593,CR605685,CR606042,CR606258,CR607545,CR608039,CR611645,CR614278,CR615144,CR623482,CR623964,CR625473,AP001160,CH471076,M21904,AB018010,AF055031,AK025584,AK090758,AK094620,AK225304,AU143131,BC001061,BC003000,BE018712,BQ128156,BU556953,BX362778,CA453972,CB138799 NP_001012679,NP_002385,NP_001012680,NP_001012681,NP_001012682,AAA51540,AAA52497,AAA35536,P08195,NP_001013269,EAW74118,EAW74119,EAW74120,EAW74121,EAW74122,EAW74123,AAA35489,BAA84649,AAH01061,AAH03000 Hs.502769 GDB:120172 4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE solute carrier family 3, member 2 protein-coding 733072 SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). 10747949,10693807,18177470,18160816,17847004,17490902,17486601,17475779,17383046,17276706,17135308,17042772,16885049,16648237,16381901,16351644,16344560,16330432,16280445,15956209,15942076,15935710,15897636,15894659,15831700,15727899,15692071,15514116,15489336,15489334,15466004,15338274,15075083,14768003,14757427,14702039,14636643,14636642,12857562,12730114,12477932,12406098,12376346,12161425,12123233,12091367,12091366,11925460,11897618,11783942,11774199,11518736,11431687,11256614,11230166,11076863,10882071,10828623,9373149,8125298,12873829,12865285 30061 AC013439,AJ609539,AJ609540,CH471058,CQ977117,AF147322,AF171087,AF215636,AF226614,AF231121,AK002038,AK223236,AK292146,NM_014585,AL136944,BC035893,BC037733,CR533564,CR598073,CR598458,CR606641,CR619136,DA806565,DQ065759,DQ065760,DQ065761,DQ065763 NP_055400,AAX93082,CAE81347,CAE81348,EAX10901,EAX10902,CAI45360,AAQ13603,AAF80986,AAF36697,AAF44330,BAA92049,BAD96956,BAF84835,CAB66878,AAH35893,AAH37733,CAG38595,AAY78556,AAY78557,AAY78558,AAY78560,Q4PNE3,Q4PNE6,Q53FP6,Q6FI62,Q9NP59,Q9NUS1,CAL38155,ABM81806,ABM84960 Hs.643005 FPN1|HFE4|IREG1|MST079|MSTP079|MTP1|SLC11A3 solute carrier family 39 (iron-regulated transporter), member 1 protein-coding 1322838 SLC41A1 solute carrier family 41, member 1 15713785,14702039,12810078 254428 NM_173854,AC119673,CH471067,AJ514402,AK092123,AK093254,AK125075,AK128069,AL831974,AL832001,AL832362,BC136303,BX641054,BX648979 NP_776253,EAW91582,EAW91583,CAD58404,CAH56217,CAH56211,CAH56213,AAI36304,CAE46028,CAH56135,Q8IVJ1 Hs.20274 MgtE protein-coding 1316398 SLC41A2 solute carrier family 41, member 2 15809054,14702039,12810078,12477932,11230166 84102 BC106872,NM_032148,AC089985,CH471054,AK027838,AL136828,BC036734,BC106871 AAI06872,AAI06873,Q96JW4,NP_115524,EAW97752,EAW97753,BAB55402,CAB66762,AAH36734 Hs.577463 DKFZP434K0427|MGC125330|MGC125331|SLC41A1-L1 protein-coding 1343810 SLC41A3 solute carrier family 41, member 3 1580863 15302935,14702039,12810078,12477932,10737800 54946 NM_001008486,NM_017836,NM_001008485,NM_001008487,AC079848,AC092903,AC117422,CH471052,CQ834870,AI814125,AK000480,AK021925,AK022780,AK091671,AK093380,AK094051,AK128054,AL560923,AW614139,AW938624,BC009039,BC009444,BC028241,BC035753,BM547018,BQ777605,CD300027,CR594553,CR600398,CR603915,CR605224,CR617540,CR625923 NP_001008486,NP_060306,NP_001008485,NP_001008487,EAW79374,EAW79375,EAW79376,CAH05650,BAA91192,BAB13938,BAB14241,BAC03717,AAH09039,AAH28241,EAW79377,Q8IV18,Q96GZ6 Hs.573007 FLJ20473|SLC41A1-L2 protein-coding 1317883 SLC43A1 solute carrier family 43, member 1 SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM] 1580863 12930836,15489334,14702039,12477932,11956097,9722952,9255310,972295 8501 NM_003627,AP002893,CH471076,AB103033,AF045584,AK027732,BC001639,CR606379 NP_003618,EAW73749,EAW73750,EAW73751,EAW73752,BAD00152,AAC33004,AAH01639,O75387 Hs.591952 LAT3|PB39|POV1|R00504 protein-coding 1350504 SLC43A2 solute carrier family 43, member 2 System L amino acid transporters, such as SLC43A2, mediate sodium-independent transport of bulky neutral amino acids across cell membranes (Bodoy et al., 2005 [PubMed 15659399]).[supplied by OMIM] 16303743,15659399,12477932 124935 NM_152346,AC130343,CH471108,AB120364,AF289592,AK074428,AK075068,AK075173,AK075196,BC019562,BC027923,BC071859,BK005642,CR625500 NP_689559,EAW90601,EAW90602,EAW90603,EAW90604,EAW90605,EAW90606,EAW90607,BAD91091,AAL55776,BAC11383,BAC11450,BAC11464,AAH19562,AAH27923,AAH71859,DAA05676,Q8N370,Q8NBW0,Q8WUU1 Hs.160550 FLJ23848|LAT4|MGC34680 protein-coding 1323779 SLC43A3 solute carrier family 43, member 3 16303743,12477932,11704567,7531438 29015 CQ834210,AB028927,AF118070,AK075552,AK290391,AK315839,AL157431,BC003163,BC064137,BG391025,CR457391,NM_017611,NM_199329,NM_014096,AP000781,CH471076 EAW73742,EAW73744,EAW73745,EAW73746,CAH05320,BAB82466,AAF22014,BAC11695,BAF83080,BAF98730,CAB75655,AAH03163,CAG33672,Q8NBI5,Q9UHU3,NP_060081,NP_955361,NP_054815,EAW73741 Hs.99962 DKFZp762A227|EEG1|FOAP-13|PRO1659|SEEEG-1 protein-coding 1352703 SLC44A1 solute carrier family 44, member 1 632580,1580863 10677542,16609143,16319125,15715662,15691711,15489334,15164053,14702039,12477932,11698453,14663150,15728831,9707433 632580 23446 NM_080546,AJ245620,AL161627,AL450265,AL590368,CH471105,CD101684,AJ272365,AJ420812,AK000109,AK022549,AK124926,BC018213,BC049203 NP_536856,CAB75541,CAI13069,CAI13070,CAI13071,EAW58995,EAW58996,EAW58997,EAW58998,EAW58999,AAH49203,Q8WWI5,CAC82175,CAD12764,AAH18213 Hs.573495 GDB:9956568 CD92|CDW92|CHTL1|CTL1|RP11-287A8.1 protein-coding 1601745 SLC44A2 solute carrier family 44, member 2 10677542,12761501,17926100,16303743,15715662,15489334,14973250,14702039,12477932,9110174,8619474 57153 AC011475,AJ245621,CH471106,AF070636,AF258549,NM_020428,AK027519,AK075512,AK126550,AL832517,AL832978,BC010617,BC020511,BC040556,BC042692,CR625042 NP_065161,CAB75542,EAW84126,EAW84127,EAW84128,EAW84129,AAG23752,BAC11662,CAH56352,CAH56342,AAH10617,AAH40556,Q8WY97,Q8IWA5 Hs.631631 CTL2|DKFZp666A071|FLJ44586|PP1292 protein-coding 1602189 SLC44A3 solute carrier family 44, member 3 16710414,16344560,15715662,15489334,12975309,12477932,10677542 126969 NM_152369,NM_001114106,AC093429,AL359554,CH471097,AY358659,BC033858,BC040448,BC053877,BX648225,CR600415,DA538278,DC311042 NP_689582,NP_001107578,CAC36091,EAW73030,EAW73031,EAW73032,EAW73033,EAW73034,EAW73035,EAW73036,EAW73037,EAW73038,AAQ89022,AAH33858,AAH53877,Q7Z6C5,Q8N4M1 Hs.483423 CTL3|MGC45474 protein-coding 1349303 SLC44A4 solute carrier family 44, member 4 632580 8125298,16344560,15715662,15489334,14702039,14656967,14574404,12975309,12477932,12067718,10677542,9373149 632580 80736 AF134726,AL662834,AL671762,AL844853,BA000025,CH471081,CR388202,AI560195,AK027397,AK222998,AK223013,AL833009,AY358457,BC014659,NM_025257,DA924720,DC300771 NP_079533,AAD21813,CAI17744,CAI18223,CAI41851,BAB63296,EAX03538,EAX03539,CAQ09513,BAB55083,BAD96718,CAH56275,AAQ88822,AAH14659,Q53GB8,Q53GD3 Hs.335355 GDB:11504831 C6orf29|CTL4|FLJ14491|NG22 chromosome 6 open reading frame 29 protein-coding 1604721 SLC44A5 solute carrier family 44, member 5 15715662,15489334,14702039,12477932 204962 NM_152697,AC093156,AC107627,AC118550,AC118990,AL096829,CH471059,CS223377,AK091400,AK093170,AK128063,BC028743,BC034580,BC051740 NP_689910,EAX06402,EAX06403,CAJ46928,BAC03655,BAC04084,AAH28743,AAH34580,AAH51740,Q4G0K0,Q8NCS7,ABM83384,ABM86596 Hs.654821 CTL5|FLJ34081|MGC34032 protein-coding 731828 SLC45A1 solute carrier family 45, member 1 1580863 16710414,10729226 50651 NM_001080397,AL356072,AL358876,AF118274 NP_001073866,AAD27583,Q9Y2W3,AAI56141,AAI56981 Hs.463036 GDB:10404358 DNB5|KIAA0458 protein-coding 1315452 SLC45A2 solute carrier family 45, member 2 The protein encoded by this gene encodes a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 18463683,18326704,17999355,17768386,17516931,17358008,17081065,17044855,16868655,16847698,15714523,15656822,15489334,15455243,14961451,14722913,12477932,11916009,11574907,11479596,11221837 51151 NM_016180,NM_001012509,AC139777,AC139783,CH471118,AF172849,BC003597,BC064405,BQ677785,BU166522 NP_057264,NP_001012527,EAX10811,EAX10812,EAX10813,EAX10814,AAD51812,AAH03597,AAH64405,Q6P2P0,Q9UMX9 Hs.278962 1A1|AIM1|MATP|SHEP5 membrane associated transporter protein-coding 1346444 SLC45A3 solute carrier family 45, member 3 61503,1580863 18172298,17721190,16344560,15489334,14997204,12477932,11245466 61503 85414 NM_033102,AC096533,CH471067,AK290364,AL832933,AY033593,BC050416,DA759616 NP_149093,EAW91575,EAW91576,EAW91577,BAF83053,CAH56282,AAK54386,AAH50416,Q658X7,Q96JT2 Hs.278695 GDB:10796253 IPCA-6|IPCA6|PCANAP6|PRST protein-coding 1607016 SLC45A4 solute carrier family 45, member 4 12477932,10574461 57210 NM_001080431,AC011676,CH471060,AB032952,AK128212,AL137490,AL713711,BC007262,BC033223,BC090891,BC157840 NP_001073900,EAW92222,EAW92224,BAA86440,BAC87328,AAH33223,AAH90891,AAI57841,Q5BKX6,Q7L180,AAI60000 Hs.372492 KIAA1126 protein-coding 1606750 SLC46A1 solute carrier family 46 (folate transporter), member 1 17129779,17475902,18003745,17947394,17446347,17335806,17156779,16143108,15489334,14702039,12477932 113235 NM_080669,AC002094,AC015917,CH471159,CQ834412,DQ496103,AK054669,AK074161,AL832613,BC010691,BC065365 NP_542400,EAW51085,EAW51086,EAW51087,EAW51088,EAW51089,CAH05421,ABF47092,BAB70789,BAB84987,CAD89945,AAH10691,Q96NT5 Hs.446689 HCP1|MGC9564|PCFT protein-coding 1321413 SLC46A2 solute carrier family 46, member 2 10978518,15489334,14702039,12826694,12477932,10706709 57864 NM_033051,AL139041,CH878453,AF242557,AK055571,BC048285 NP_149040,EAW50550,EAW50551,EAW50552,AAK28343,BAB70960,AAH48285,Q4VXI6,Q9BY10 Hs.512668 GDB:11502261 Ly110|TSCOT thymic stromal co-transporter protein-coding 1606669 SLC46A3 solute carrier family 46, member 3 14702039,12477932 283537 NM_181785,AL359454,CH471075,AF315594,AK093932,AK098426,AK124604,BC068556,BX537565,CR611527,BC060850,BC036662 NP_861450,CAI17158,CAM24029,EAX08436,EAX08437,EAX08438,AAL18405,BAC85896,AAH60850,AAH68556,CAD97783,Q3ZCV8,Q6NUK5,Q6P9B3,Q6ZVG5,Q7Z3Q1,Q96QA1,AAH36662 Hs.117167 FKSG16|FLJ42613|RP11-97E23.2 protein-coding 1605371 SLC47A1 solute carrier family 47, member 1 This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. 17495125,11997338,17855482,17509534,17047166,16996621,16928787,16330770,14702039,12477932,9373149,8125298 55244 NM_018242,AC025627,CH471212,AK001709,AK222625,AK225360,BC010661,BC050592,BC058882 NP_060712,EAW50893,EAW50894,EAW50895,BAA91852,BAD96345,AAH10661,AAH50592,AAH58882,Q96FL8 Hs.232054 FLJ10847|MATE1|MGC64822 protein-coding 1603576 SLC47A2 solute carrier family 47, member 2 This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. 17509534,16996621,16807400,16330770,14702039,12477932,11181995,8889548 146802 BC035288,CH471212,AB250364,AB250701,AK055758,AK096080,AK123589,NM_152908,NM_001099646,NG_007095,AC005722,BC050578,BC062614,BG432484,BM924669,BM930596,BX648861 EAW50901,EAW50902,EAW50903,EAW50904,EAW50905,EAW50906,EAW50907,BAF36847,BAF37007,BAB71004,NP_690872,NP_001093116,AAH35288,AAH50578,CAH56154,Q86VL8 Hs.126830 FLJ31196|MATE2|MATE2-B|MATE2-K protein-coding 737027 SLC4A1 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. 1599007,1580863 4027230,16669616,8841202,1527044,18160114,17971901,17941824,17854772,17652430,17554061,17553790,17533027,17453414,17408468,17361021,17317744,17205967,17137217,17128827,17027918,16960783,16914912,16849697,16762928,16718373,16700540,16420521,16411779,16392641,16252102,16229454,16227998,16118313,16107207,16013436,15907563,15847654,15813913,15811326,15653731,15500919,15489334,15478802,15252044,15211439,15182940,15121092,15087282,15067510,15039022,14769040,14736961,14734552,14695625,14654610,14640982,14604989,14570914,12938018,12933803,12813056,12578372,12531814,12482869,12482865,12477932,12466935,12446737,12227829,9191821,9012689,8960772,8943874,8808627,8704215,8693505,8640229,8578746,8567957,8547122,8527430,8508760,8471774,8434259,8343110,8282779,8206915,8168533,8045253,7949112,7919393,7902326,7812009,7774942,7530501,7506871,7479704,6615451,6449514,6345535,3478298,3372523,3223947,2968981,2790053,2594752,2575590,2065070,1998697,1885574,1824272,1737855,1722314,1678289,1639060,1538405,1520883,1471983,1378323,1352774,701248,695442,12175337,12149479,12101015,12087557,12070037,11994299,11934690,11876646,11844997,11831035,11756190,11380459,11208088,11155072,11063570,11049968,10942416,10942405,10926824,10820026,10364201,9973643,9854053,9845551,9774471,9765907,9734643,9709782,9709005,9600966,9454576,9422766,9312167,9233560,9207478 1599007 6521 NG_007498,AC003043,AC003102,CH471178,DQ072115,L35930,M16978,M16979,BC096106,BC096107,BC099628,BC099629,BC101570,BC101574,NM_000342,CR599802,DQ419529,M27819,S68680,X12609 Q6LDU9,Q9UDJ1,Q4KKW9,NP_000333,EAW51614,AAY57324,AAA51670,AAA51671,AAH96106,AAH96107,AAH99628,AAH99629,AAI01571,AAI01575,ABD74692,AAA35514,AAC60608,CAA31128,P02730,P78488,Q1ZZ45 Hs.443948 GDB:119874 AE1|BND3|CD233|DI|EMPB3|EPB3|FR|MGC116750|MGC116753|MGC126619|MGC126623|RTA1A|SW|WD|WD1|WR solute carrier family 4, member 1 protein-coding 1348028 SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 SLC4A10 is an Na(+)-dependent Cl-/HCO3- exchanger (Jacobs et al., 2008 [PubMed 18165320]).[supplied by OMIM] 10993873,18413482,18319254,18165320,15815621,12477932,10965143,10964153 57282 AC008063,AC062022,AC092841,AC096654,CH471058,AB040457,AL713680,AL832525,AY376402,BC036415,BC038298,BC051190,CA841736,NM_022058 NP_071341,AAX93124,AAX88962,EAX11363,EAX11364,BAB18301,CAD28484,CAD38630,AAQ83632,Q53SB3,Q6U841 Hs.333958 GDB:11504571 protein-coding 1320941 SLC4A11 solute carrier family 4, sodium borate transporter, member 11 1580863 15525507,18474783,18363173,18024964,17679935,17667634,17397048,17262014,17220209,16825429,16767101,14702039,12654361,12477932,11780052,11302728,10843999,10512674,10209448,8889548 83959 AL109976,CH471133,AF336127,AK075303,AK091157,NM_032034,BC110540,BC110541,BM666654 Q5JWY6,Q8NBS3,Q2TB63,CAB90170,CAD55941,CAD55942,EAX10535,EAX10536,EAX10537,EAX10538,EAX10539,AAK16734,BAC11536,NP_114423,AAI10541,AAI10542,Q2TB62 Hs.105607 GDB:11507867 BTR1|CDPD|CHED2|MGC126418|MGC126419|NABC1|dJ794I6.2 protein-coding 1316058 SLC4A1AP solute carrier family 4 (anion exchanger), member 1, adaptor protein 1580863 17081983,15815621,15764369,15489334,15302935,15252450,14702039,12800979,12477932,11934690,11772400,11329013,9422766 22950 AC074091,NM_018158,CH471053,AK001486,AK098323,AY028435,AY117688,BC098302,BC098358,BC099711,BC099739,BG220419,DQ786283 AAX93203,NP_060628,EAX00554,EAX00555,BAA91718,AAK29177,AAN12269,AAH98302,AAH98358,AAH99711,AAH99739,Q9BWU0 Hs.306000,Hs.493655 GDB:9957761 FLJ10624|FLJ41004|HLC3|MGC120646|MGC120648 protein-coding 733302 SLC4A2 solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) 1580863 3015590,17652430,17058451,16344560,15489334,14575719,12477932,12225956,11852051,11842009,11248201,11208611,11156694,10820026,10623603,10577919,10491633,10491290,10452823,9587054,9477304,9027488,8889548,8434259,7984058,7626035,3020980,2968981,1562608 6522 BC028601,BM680391,CR594021,CR602751,CV807529,DA103528,DA699325,U62531,X03918,X62137,AC010973,CH471173,DQ149844,U76669,AB209158,BC004893,BC009386,BC009434,BC010069,NM_003040 AAH10069,AAH28601,AAC50964,CAA27556,CAA44067,P04920,NP_003031,EAW54044,EAW54045,EAW54046,EAW54047,EAW54048,AAZ38724,AAF19583,AAF19584,AAF23240,BAD92395,AAH04893,AAH09386,AAH09434,Q59GF1,Q6PJY3,Q8TAG3,Q99654,Q9UEY4,Q9UEY5,Q9UEY6,ABM87511,ABW03897 Hs.647069 GDB:119109 AE2|BND3L|EPB3L1|HKB3|NBND3 solute carrier family 4, member 2 protein-coding 733142 SLC4A3 solute carrier family 4, anion exchanger, member 3 1580863 7923606,12477932,12027221,11994299,11875273,11875255,11842009,11739292,11606574,11248201,11208611,10732805,10362722,8227202,8001971,2686841 6508 NM_005070,NM_201574,AC009955,CH471063,AK226122,AK289974,AY142112,BC146656,L27213,U05596,X70797,X87211 Q99416,NP_005061,NP_963868,EAW70777,EAW70778,BAF82663,AAN34939,AAI46657,AAB05850,AAA50748,CAA50067,CAA60670,P48751,Q13717,Q6YIQ9 Hs.1176 GDB:375325 AE3|SLC2C solute carrier family 4, member 3 protein-coding 68964 SLC4A4 solute carrier family 4, sodium bicarbonate cotransporter, member 4 Sodium bicarbonate cotransporters (NBCs) mediate the coupled movement of sodium and bicarbonate ions across the plasma membrane of many cells. This is an electrogenic process with an apparent stoichiometry of 3 bicarbonate ions per sodium ion. Sodium bicarbonate cotransport is involved in bicarbonate secretion/absorption and intracellular pH regulation. Romero and Boron (1999) [PubMed 10099707] reviewed NBCs. Soleimani and Burnham (2000) [PubMed 10652014] reviewed NBCs and their regulation in physiologic and pathophysiologic states.[supplied by OMIM] 61794,1600028,1600034 9651366,9235899,18223262,17881426,17182531,16857349,16707554,16687407,16622177,16344560,16159892,15930088,15817634,15713912,15563508,15489334,15471865,15366422,15329059,15273250,15218065,15123668,14702039,14567693,14559244,12907161,12730338,12534288,12477932,12411514,11744745,11743927,10652014,10600945,10545938,10099707,10069984 61794,1600028,1600034 8671 NM_001098484,NM_003759,AC019089,AC079230,AC096713,AC110783,AC112226,CH471057,AF004813,AF007216,AF011390,AF053753,AF053754,AF069510,AF157492,AF310248,AK090968,AK226164,AV726720,BC030977,BC127908,CR749482,DA343084,DA378692,DA635432,EF531618 NP_001091954,NP_003750,EAX05639,EAX05640,EAX05641,EAX05642,EAX05643,EAX05644,AAD31379,AAC51645,AAC39840,AAF21718,AAF21719,AAD42020,AAF80343,AAG47773,AAH30977,CAH18310,ABQ43327,Q68DB0,Q9Y6R3,Q9Y6R1 Hs.5462 GDB:9956213 DKFZp781H1314|HNBC1|KNBC|NBC1|NBC2|SLC4A5|hhNMC|pNBC protein-coding 731047 SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5 This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. 1580863 16365189,12477932,12388414,12063394,11788353,11562789,11087115,10978526 57835 NM_133478,NM_021196,AC006030,AC073263,AC103915,CH471053,AB209752,AF243499,AF293337,AF293338,AF452248,AF453528,BC109221,DB455137 NP_597812,NP_067019,AAF03523,AAX93062,AAY14938,EAW99688,EAW99689,EAW99690,EAW99691,EAW99692,EAW99693,BAD92989,AAK26741,AAK97072,AAK97073,AAL48291,AAL50802,AAI09222,Q53QY5,Q53S35,Q9BY07,Q9UDR3 Hs.656447 GDB:11504573 MGC129662|NBC4 protein-coding 730989 SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 1580863 17353931,10347222,17624982,16301216,15324660,15144186,14736710,14578046,12403779,10600945,10198178,9610397 9497 NM_003615,AC099535,CH471055,AB012130,AF047033,AF053755,AF089726,AL389947,AL833589,CR627428 NP_003606,EAW64381,EAW64382,EAW64383,EAW64384,BAA25898,AAD38322,AAF21720,AAG16773,CAH10515,Q9Y6M7,AAI56214 Hs.250072 GDB:9956871 DKFZp686H168|NBC2|NBC3|SBC2|SLC4A6 protein-coding 1350896 SLC4A7OS solute carrier family 4, sodium bicarbonate cotransporter, member 7 opposite strand 404197 1346907 SLC4A8 solute carrier family 4, sodium bicarbonate cotransporter, member 8 1580863 16344560,14736710,14702039,12477932,12444018,12403779,12121896,12027220,11133997,10362779,10347222,9872452,16189514 9498 NM_001039960,NM_004858,AC025097,AC107031,CH471111,AB018282,AF069512,AF107099,AK093005,AK093357,AK128321,AL831915,BC025994,DA521806,DQ063579,DQ975204,DQ996398,DQ996537 NP_001035049,NP_004849,EAW58191,EAW58192,EAW58193,BAA34459,AAC82380,AAD52981,BAC87383,CAD38576,AAH25994,AAY79176,ABJ09587,ABJ91577,ABJ91576,Q2Y0W8,Q6ZRC9 Hs.370636 GDB:9956874 DKFZp761B2318|FLJ46462|NBC3 protein-coding 730837 SLC4A9 solute carrier family 4, sodium bicarbonate cotransporter, member 9 1580863 11305939,11302728 83697 NM_031467,AC008438,CH471062,AB032762,AF313465,AF332961,AF336237,CB046220 NP_113655,EAW62061,EAW62062,EAW62063,EAW62064,EAW62065,EAW62066,EAW62067,EAW62068,BAA93010,AAK28832,AAK69625,AAK16733,Q96Q91 Hs.550313 GDB:10795850 AE4 protein-coding 732146 SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1 Glucose transporters are integral membrane proteins that mediate the transport of glucose and structurally-related substances across cellular membranes. Two families of glucose transporter have been identified: the facilitated-diffusion glucose transporter family (GLUT family), also known as 'uniporters,' and the sodium-dependent glucose transporter family (SGLT family), also known as 'cotransporters' or 'symporters' (Wright et al., 1994 [PubMed 7823022]). The SLC5A1 gene encodes a protein that is involved in the active transport of glucose and galactose into eukaryotic and some prokaryotic cells.[supplied by OMIM] 1624257,1580863,1626159,1625539 8563765,17983207,17903058,17686765,17567994,17505558,17495124,17222499,17153597,17130520,16860318,16788146,16446504,16322051,16300400,16260652,15904891,15885653,15596535,15476411,15461802,15166308,14724758,12773314,12543931,12488461,12477932,12139397,12082088,12039040,11406349,11131365,10591208,10036327,8567640,8244393,8195156,7823022,7759499,2490366,2008213,16327313,15090548 1624257,1626159,1625539 6523 NM_000343,AL022321,CH471095,L29339,Z74021,Z80998,Z83849,BC139839,CR456579,DQ656053,M24847 NP_000334,CAI19810,EAW60006,AAB59448,CAI23589,AAI39840,CAG30465,AAA60320,P13866,AAI39839,AAI41436,AAI46581,CAK54607,CAK54906 Hs.1964 GDB:120375 D22S675|NAGT|SGLT1 solute carrier family 5, member 1 protein-coding 1313138 SLC5A10 solute carrier family 5 (sodium/glucose cotransporter), member 10 1580863 15342556,12477932 125206 NM_152351,NM_001042450,AC003957,AC090286,CH471276,AK057946,BC034380,BC039868,BC062617,BP332461,DR003789 NP_689564,NP_001035915,EAW50439,EAW50440,EAW50441,BAB71619,AAH34380,AAH39868,AAH62617,A0PJK1 Hs.462418 FLJ25217|SGLT5 protein-coding 1347645 SLC5A11 solute carrier family 5 (sodium/glucose cotransporter), member 11 Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM] 1580863 18069935,12477932,12133831,12039040 115584 NM_052944,AC008731,CH471145,AF292385,AJ305237,AK125267,AY044906,BC049385,BC057780,U41898 NP_443176,EAW55781,AAK97053,CAC83728,BAC86105,AAK97784,AAH49385,AAH57780,AAB61733,O15280,Q05BF1,Q8WWX8 Hs.164118 KST1|RKST1|SGLT6|SMIT2 protein-coding 1345162 SLC5A12 solute carrier family 5 (sodium/glucose cotransporter), member 12 737633,1580863 17692818,15146197,12477932 737633 159963 NM_178498,AC083755,CH471064,AL049270,AW614338,AY299482,BC029048,BC041454,BC049207,BM924715,CN370367,CR747563 NP_848593,EAW68293,EAW68294,EAW68295,AAQ73572,AAH41454,AAH49207,Q1EHB4,Q8IUS7 Hs.148907 DKFZp564G223|MGC52019 protein-coding 731434 SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 1599049,1599050,737731,1580863,1626159,1625539 8244402,17505558,15610225,14702039,14614622,14569097,12436245,1415574 1599049,1599050,737731,1626159,1625539 6524 NM_003041,AC026471,AF307340,CH471192,AI222550,AK054830,BC131542,M95549 NP_003032,AAL66409,EAW52123,EAW52124,EAW52125,AAI31543,AAA36608,P31639,Q8WY15 Hs.654417 GDB:209392 SGLT2 low affinity na-dependent glucose transporter (sglt2) protein-coding 734339 SLC5A3 solute carrier family 5 (inositol transporters), member 3 1580863 1372904,17178845,16344560,15342556,14702039,10830953,9612208,9441750,8646889,7789985,9685419 6526 NM_006933,AF027153,AP000315,AP000467,L38500,AB074183,AK024896,AK026169,AK055913,AK092248,AL833562,BP290336,DA723865,DB080492,X83558 NP_008864,AAC39548,AAC41747,P53794,AAI40350,AAI46537 Hs.302742 GDB:373217 SMIT|SMIT2 protein-coding 1315814 SLC5A4 solute carrier family 5 (low affinity glucose cotransporter), member 4 1580863 18198291,17705872,17110502,16319503,13130073,12354616,10591208,9501190 6527 NM_014227,AL008723,CH471095,AJ133127,U41897 NP_055042,CAB51758,EAW60017,EAW60018,CAB81772,AAB61732,Q9NY91,AAI46452,AAI53070 Hs.130101 GDB:373213 DJ90G24.4|SAAT1|SGLT3 protein-coding 731751 SLC5A5 solute carrier family 5 (sodium iodide symporter), member 5 The sodium-iodide symporter (NIS, or SLC5A5) is a key plasma membrane protein that mediates active I- uptake in thyroid, lactating breast, and other tissues with an electrogenic stoichiometry of 2 Na+ per I-. In thyroid, NIS-mediated I- uptake is the first step in the biosynthesis of iodine-containing thyroid hormones (Dohan et al., 2007 [PubMed 18077370]).[supplied by OMIM] 1624273,1580863 12602914,12588808,12477932,12475396,12351692,12161518,12039073,12021185,11575851,11231356,11170832,10893432,10487695,9814502,9745458,9709973,9657379,9492156,9486973,9398697,9329364,9231811,9171822,8806637,3998954,3451231,2249482,1410443,9388506,18077370,17938324,17726079,17696829,17408651,17297475,17214887,17164311,16990649,16982034,16954431,16391203,16335670,16264365,15976004,15968416,15919754,15562032,15522214,15489334,15472226,15340050,15215159,15068624,15062579,15062578,15057824,15009910,14630715,12720543,12679487 1624273 6528 NM_000453,AC005796,AF059566,CH471106,AF260700,BC105047,BC105049,BX648217,D87920,U66088 NP_000444,AAC62827,AAC14697,EAW84643,AAF70339,AAI05048,AAI05050,BAA24835,AAB17378,Q92911,Q9UEU3 Hs.584804 GDB:5892184 NIS solute carrier family 5, member 5 protein-coding 69654 SLC5A6 solute carrier family 5 (sodium-dependent vitamin transporter), member 6 68917,1580863 9516450,17135299,16959947,16749865,16303743,15561972,14702039,12646417,12477932,11955628,11834205,10334869,10329687 68917 8884 NM_021095,AC013403,AF116241,CH471053,AF069307,AF081571,AF288781,AF442149,AF442150,AK027855,AK075078,AL096737,BC012806,BC015631 NP_066918,AAX93172,AAD37502,EAX00620,EAX00621,EAX00622,EAX00623,AAD31727,AAD37481,AAG00587,AAL84706,AAL84707,BAC11387,CAH56408,AAH12806,AAH15631,Q659F8,Q8NC18,Q969Y5,Q9HD19,Q9Y289,ABW03592 Hs.435735 GDB:9957526 SMVT protein-coding 1348839 SLC5A7 solute carrier family 5 (choline transporter), member 7 Choline is a direct precursor of acetylcholine (ACh), a neurotransmitter of the central and peripheral nervous system that regulates a variety of autonomic, cognitive, and motor functions. SLC5A7 is a Na(+)- and Cl(-)- dependent high-affinity transporter that mediates the uptake of choline for acetylcholine synthesis in cholinergic neurons (Apparsundaram et al., 2000 [PubMed 11027560]).[supplied by OMIM] 1580863 12237312,11068039,11027560,17005849,16876130,15815621,15784779,15489334,15450352,15090548,14623932,12969261,12628461,12477932,12406342 60482 AC009963,NM_021815,AJ308378,CH471182,AB043997,AB084377,AF276871,AJ401466,BC111524,BC111525 NP_068587,AAY14927,CAC88115,EAW53893,BAB18161,AAG25940,CAC03717,AAI11525,AAI11526,Q2T9H3,Q9GZV3 Hs.287758 GDB:10014003 CHT|CHT1|MGC126299|MGC126300|hCHT protein-coding 1352176 SLC5A8 solute carrier family 5 (iodide transporter), member 8 18037591,17692818,17526579,17245649,16858683,16670197,16375929,15867356,15001644,14966140,12829793,12477932,12107270 160728 NM_145913,AC079953,AF536217,CH471054,AF536216,AK075263,AY081220,BC110492 NP_666018,AAP46194,EAW97648,EAW97649,EAW97650,EAW97651,AAP46193,AAL88746,AAI10493,Q8N695 Hs.444536 AIT|MGC125354|SMCT protein-coding 1322816 SLC5A9 solute carrier family 5 (sodium/glucose cotransporter), member 9 15607332,12477932 200010 NM_001011547,AL109659,CH471059,AK131200,BC025411,BC032417,BC048332,BC104857,BC104863,BX648549 NP_001011547,CAI18915,EAX06857,EAX06858,EAX06859,AAI04858,AAI04864,Q2M3M2 Hs.37890,Hs.671519 MGC132517|MGC132523|SGLT4 protein-coding 731475 SLC6A1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 1580863,1643191,1643202,1643208,1643214,1643219,1643206,1643209,1643205,1643217 8530094,2387399,18367207,18005940,17994179,17967412,17941974,17544870,17440935,17210573,17099065,16344560,15905165,15496410,15106822,14744863,14702039,12925537,12477932,12446715,11960023,11744314,11555659,11017172,10640187,10197772,9698305,9623887,9512391,9195904,8995422 1643191,1643202,1643208,1643214,1643219,1643206,1643209,1643205,1643217 6529 NM_003042,AC024910,CH471055,AK090958,BC033904,BC057291,DA162953,X54673 NP_003033,EAW64088,EAW64089,EAW64090,AAH33904,CAA38484,P30531,Q8N4K8,ABM82148,ABM85331 Hs.443874 GDB:223418 GABATHG|GABATR|GAT1 gaba transporter protein protein-coding 1343735 SLC6A10P solute carrier family 6 (neurotransmitter transporter, creatine), member 10 (pseudogene) 16125675,12477932,9154116,8817324,8661037 386757 XR_017833,NR_003083,AC142086,U41163,AK125843,BC068290,BC117243,XR_017878 AAA96028,BAC86314,P53796,Q6ZUB2 Hs.433146 GDB:1220162 CT-2|CT2|FLJ43855|SLC6A10|SLC6A10pB|slc6a10 solute carrier family 6 (neurotransmitter transporter, creatine), member 10 pseudo 732372 SLC6A11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 Gamma-aminobutyric acid (GABA) is a major inhibitory neurotransmitter. GABAergic neurotransmission is terminated by the uptake of GABA into the presynaptic terminal and the surrounding astroglial cells by sodium-dependent transporters, such as SLC6A11.[supplied by OMIM] 1580863 18334916,12477932,7874447,1400419 6538 NM_014229,AC018495,AC027128,CH471055,BC036083,S75989 NP_055044,EAW64086,EAW64087,AAH36083,AAB33570,P48066,Q8IYC9,AAI52736 Hs.657405 GDB:439031 GAT-3|GAT3 protein-coding 731509 SLC6A12 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 1580863 16344560,16198020,14702039,12477932,12111824,10228153,7861179,7589472 6539 NM_003044,NM_001122847,NM_001122848,AC007406,CH471116,AK096046,AK125026,AK131564,BC026339,BC036838,BC126215,BC126217,CR608440,DA638367,L42300,U27699 NP_003035,NP_001116319,NP_001116320,EAW88975,EAW88976,EAW88977,EAW88978,BAD18697,AAI26216,AAI26218,AAA66574,AAA87029,A0AV52,P48065,Q6ZMM8 Hs.437174 GDB:9767965 BGT-1|BGT1|FLJ38727 gaba transporter protein-coding 733725 SLC6A13 solute carrier family 6 (neurotransmitter transporter, GABA), member 13 1580863 17502375,16125675,12477932,11824941,1400419 6540 NM_016615,AC007406,CH471116,AF462445,BC020867,BC022392,U76343 NP_057699,EAW88972,EAW88973,EAW88974,AAP97713,AAH20867,AAH22392,AAF64247,Q8TCC2,Q8WW56,Q9NSD5,ABM82951,ABM86143 Hs.504398 GDB:9767967 GAT-2|GAT2 protein-coding 1347984 SLC6A14 solute carrier family 6 (amino acid transporter), member 14 SLC6A14 is a member of the Na(+)- and Cl(-)-dependent neurotransmitter transporter family and transports both neutral and cationic amino acids in an Na(+)- and Cl(-)-dependent manner.[supplied by OMIM] 1625271,1625272,1625275,1625278,1580863 10446133,15905073,15772651,15489334,15331564,14660752,12477932,12388375,10999806 1625271,1625272,1625275,1625278 11254 Z96810,AF151978,BC093710,BC093712,NM_007231,AL034411,CH471234 EAW51500,EAW51501,CAI42799,AAD49223,AAH93710,AAH93712,Q9UN76,NP_009162 Hs.522109 GDB:11507869 ATB(0+) protein-coding 735866 SLC6A15 solute carrier family 6, member 15 SLC6A15 shows structural characteristics of an Na(+) and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites (Farmer et al., 2000 [PubMed 11112352]).[supplied by OMIM] 737637,1580863 11112352,16226721,15489334,14702039,12477932,10471414,8889548 737637 55117 AC018922,CH471054,AF265577,AF351619,AI368909,AK001178,AK022853,AK291207,AL050066,BC022253,BC070040,BE535587,BM696062,CR613550,CR749673,NM_182767,NM_018057 NP_060527,EAW97388,EAW97389,EAW97390,AAG41361,AAN76519,BAA91536,BAB14274,BAF83896,AAH22253,AAH70040,CAH18464,Q68CX0,Q8IXG2,Q8TBM6,Q9H2J7,Q9H9F5,Q9NW50,NP_877499 Hs.44424 GDB:10796996 DKFZp761I0921|FLJ10316|MGC87066|NTT73|SBAT1|V7-3|hv7-3 protein-coding 1353315 SLC6A16 solute carrier family 6, member 16 SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM] 737637,1580863 11112352,12477932,11230166,10471414 737637 28968 NM_014037,AC011450,CH471177,AF151977,AF265578,AL136856,AW451672,BC034948,BG772801 NP_054756,EAW52464,AAD38044,AAG41362,CAB66790,AAH34948,Q8IYV4,Q9GZN6 Hs.130949 GDB:10796997 NTT5 protein-coding 1603474 SLC6A17 solute carrier family 6, member 17 The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM] 16710414,16344560,16125675,14702039 388662 NM_001010898,AL137790,AL355990,CH471122,AK054687,AK124875,AK289982,AL137437,AL833249,DA081361,DA325382 NP_001010898,CAI18832,EAW56432,BAC85976,BAF82671,Q6ZV87,Q9H1V8 Hs.128382 NTT4 protein-coding 1346320 SLC6A18 solute carrier family 6, member 18 The SLC6 family of proteins, which includes SLC6A18, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM] 737633,1580863 16340170,16125675,15489334,15286787,14702039,12477932,11850805 737633 348932 NM_182632,AC114291,AY007685,CH471102,AK055798,BC056757 NP_872438,AAG23290,EAX08172,EAX08173,BAB71018,AAH56757,Q96N87,Q9BYZ7 Hs.213284 FLJ31236|Xtrp2 protein-coding 1604954 SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19 This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. 17555458,15286788,15286787,15044460,14702039,11394870 340024 NM_001003841,XM_001720416,XM_001722996,XM_001716583,AC114291,CH471102,AI015994,AK000687,AK091954,AK096054,AK123779,AK290811,AY591756,AY596807 NP_001003841,XP_001720468,XP_001723048,XP_001716635,EAX08174,EAX08175,BAC03776,BAF83500,AAT66171,AAT42127,Q695T7,Q8NAX1,AAI46291,AAI48802 Hs.481478,Hs.585128,Hs.587331,Hs.711764 B0AT1|FLJ20680|FLJ34635|HND protein-coding 731947 SLC6A2 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 The SLC6A2 gene encodes a norepinephrine (noradrenaline) transporter, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis (Kim et al., 2006 [PubMed 17146058]).[supplied by OMIM] 1624279,1624278,1580863 16024787,2008212,11343649,18259012,18214863,18197080,18187607,18163388,18089827,18085566,18081710,17994190,17955457,17920180,17917281,17876324,17845831,17654409,17630229,17621171,17428804,17404580,17353941,17239355,17156375,17146058,17124432,17032905,16969268,16965261,16848906,16741933,16712949,16573647,16538182,16272960,16242784,16189177,16092934,15963952,15946904,15900230,15763139,15763138,15757904,15722184,15717291,15539861,15485485,15362567,15337646,15322419,15138209,15135235,15118352,14726430,14675164,14620922,12805287,12787070,12629174,12589229,12480177,12477932,12401556,12374639,12210284,12210281,12140790,12127072,12097806,11927173,11875370,11744160,11739781,11707293,10684912,10037744,9808705,9655936,8478011,7905857,7488042,11920844 1624279,1624278 6530 NM_001043,AC136621,AF061198,CH471092,X91117,X91119,AB022846,AB022847,BC000563,BC039309,BC060831,CR611590,M65105 NP_001034,AAD17521,EAW82831,EAW82832,EAW82833,EAW82834,EAW82835,CAA62566,CAC39181,BAA82110,BAA82111,AAH00563,AAA59943,P23975,Q6P9C5,Q71UR5,Q96KH8,Q9BW84,Q9UQ04,Q9Y6W9,AAI56904 Hs.78036 GDB:127367 NAT1|NET|NET1|SLC6A5 solute carrier family 6 (neurotransmitter transporter,noradrenalin), member 2 protein-coding 1603308 SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20 Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. 9932288,15632147,15308626,12477932,11352561 54716 NM_022405,NM_020208,AC098476,AJ289880,CH471055,AF075260,AJ276207,AF125107,AJ276208,AL389979,BC036073,BC126197 NP_071800,NP_064593,CAB96872,EAW64747,EAW64748,AAC27755,CAB99310,AAL75944,CAB99311,CAB97535,AAI26198,Q9NP91 Hs.413095 MGC161475|SIT1|XT3|Xtrp3 protein-coding 733809 SLC6A3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 The dopamine transporter (DAT1) mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The DAT1 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992 [PubMed 1359373]).[supplied by OMIM] 1358582,1625653,1625655,1625656,1625663,1625668,1580863,734997 16024787,11343649,10823899,18444252,18404133,18374902,18366104,18331164,18327668,18298267,18270970,18239643,18216182,18214865,18214864,18206700,18197081,18197080,18188752,18181793,18174826,18165969,18094849,18088380,18081165,18070248,18045777,17440935,17439486,17432702,17427194,17427187,17413453,17403983,17392738,17325714,17316573,17314918,17267664,17264803,17255098,17250655,17245411,17225991,17192955,17191306,17187291,17175058,17171650,17440978,17440951,17157268,18023044,18004640,17979508,17965994,17955458,17955457,17934207,17928119,17907820,17893706,17873367,17711354,17705902,17704152,17692827,17690944,17689985,17679637,17671965,17654295,17633563,17621383,17608284,17582621,17579611,17579368,17579365,17549062,17539957,17526637,17525955,17508996,17508355,17501935,17500623,17485610,17483451,17466074,17449559,17449448,17135598,17130883,17120049,17109713,17079728,17063150,17044101,17044099,17042887,17028370,17023870,16963468,16930369,16917950,16894395,16818870,16783497,16782077,16760197,16741944,16712949,16710758,16702979,16674552,16671078,16623961,16611807,16604301,16585476,16569110,16545000,16537431,16526040,16526026,16424823,16406146,16402340,16389711,16389200,16368111,16342279,16309561,16261167,16222334,16216085,16201143,16178931,17150335,16171832,16168728,16165273,16139170,16125912,16123773,16110277,16109712,16109590,16103889,16082693,16082688,16041244,15996968,15993876,15940306,15924135,15872345,15845322,15827573,15823165,15809660,15768394,15763138,15724142,15722958,15708296,15683546,15608954,15605097,15602501,15567077,15542698,15492001,15381926,15380858,15370155,15274029,15229055,15211638,15210531,15202772,15193761,15190232,15148564,15135042,15094788,15091313,15069467,15024426,15024013,14978671,14732864,16178930,14732464,14685824,14681904,14660644,14597628,14584093,14570538,14519759,12947560,12931138,12915833,12898575,12874502,12859681,12815660,12773538,12746456,12740596,12708251,12707943,12707931,12686408,12672538,12660802,12658362,12650952,12630565,12605102,12579508,12513948,12490667,12477932,12465073,12464618,12459514,12457396,12453630,12429746,12422069,12401557,12232785,12215242,12210886,12177201,12173460,12172219,12149916,11989984,11959130,11911442,11834311,11820798,11807408,11803445,11803442,11798784,11774209,11558224,11505915,11449401,11378848,11304827,11292651,11244477,11239904,11220753,11165777,11140838,11104840,10889531,10391209,10363710,9837830,9703165,9398650,9300814,8628395,8302271,7717410,7637582,1406597,1359373,1353885,16237680,14550771 1358582,1625653,1625655,1625656,1625663,1625668,734997 6531 NM_001044,AC026748,AF119117,AF321321,AY623110,CH471102,CS223367,D88570,U92262,Y10141,BC132977,BC133003,EF174603,L24178,M95167,M96670,S44626,S46955 NP_001035,AAC50179,AAG33844,AAT38106,EAX08158,EAX08159,EAX08160,CAJ46923,BAA22511,AAC51876,CAA71229,AAI32978,AAI33004,ABO77644,AAA19560,AAC41720,AAA35770,AAB23443,AAA11754,Q01959,Q6LC27,Q99494 Hs.406 GDB:132445 DAT|DAT1 solute carrier family 6, member 3 protein-coding 732932 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. 1580639,1358567,1624295,1580863 18430257,18405071,18405062,18404133,18396414,18387780,18379473,18378990,18364363,18361419,18360696,18358985,18358611,18349701,18349696,18349694,18347599,18332644,18331431,18330458,18325652,18317590,18315446,18314311,18311688,18306344,18286634,18286633,18279474,18273536,18270970,18270821,18266983,18264772,18261931,18253134,16024787,11343649,7681602,18490109,18486105,18477062,18476994,18465388,18458677,18455241,18452396,18452186,18450378,18441666,18239665,18239643,18227069,18214863,18212126,18211952,18209475,18197083,18197080,18193379,18191458,18191318,18188752,18188666,18186076,18182772,18181968,18180427,18164547,18158371,18155777,18079067,18075477,18075474,18073772,18063936,18057558,18055562,18039673,18005940,18004675,17991706,17974934,17971028,17970527,17964050,17955359,17950969,17949693,17948892,17948872,17944104,17943026,17942837,17940752,17931441,17931440,17931437,17931429,17928119,17913921,17909168,17892388,17886257,17877505,17875025,17874349,17853254,17823651,17804080,17766691,17766685,17728667,17728663,17728423,17722012,17711874,17707567,17702275,17702053,17701464,17700575,17698206,17697394,17690945,17690869,17690552,17678634,17659308,17642369,17635185,17629953,17628790,17621383,17621167,17621163,17618721,17614196,17606812,17598758,17597424,17579368,17579366,17579356,17564628,17564514,17563839,17548158,17544870,17544379,17519929,17511889,17509016,17504250,17503984,17482146,17481593,17466494,17460615,17455215,17453062,17453059,17453058,17450557,17440951,17437611,17417056,17414739,17408646,17406648,17406646,17401157,17394071,17392738,17387319,17382402,17375136,17373693,17365753,17359932,17356577,17353910,17351723,17342170,17340199,17324031,17310797,17307423,17299512,17299098,17297267,17297200,17295220,17291660,17291658,17287080,17280648,17241856,17241828,17225991,17225932,17221847,17217236,17216342,17211439,17210141,17203304,17183148,17174018,17167343,17167334,17157919,17157270,17151167,17146470,17137596,17124363,16430230,16421513,16412987,16405867,16402131,16399993,16397402,16395127,16395126,16389730,16389711,16380315,16362658,16362633,16344560,16339917,16338761,16319504,16319503,16314764,16313923,16313653,16303282,16302021,16281377,16274962,16272152,16257094,16252073,16969272,16966839,16966188,16965382,16958039,16958038,16953000,16950802,16946185,16942951,16941663,16941121,16936762,16934775,16930719,16920076,16900105,16893493,16886116,16882008,16875929,16874005,16870614,16868569,16859753,16856124,16848906,16215942,16212676,16209960,16205790,16205777,16191748,16186633,16186632,16167465,16163530,16154545,16139170,16127282,16125912,16125146,16109588,16109120,16103890,16103887,16095668,16093315,16220023,16091117,17123473,17113652,17101915,17093889,17092972,17092963,17083920,17079080,17074108,17069894,17063469,17055531,17051418,17042919,17040410,17033630,17029913,17028448,17026953,17018806,17017823,17013635,17009264,17008313,17000009,16991018,16972235,16972224,16969368,16969275,17123722,16249995,16088327,16082698,16082690,16082508,16055563,16055263,16038876,16034444,16025417,16023085,16009349,15999296,15995945,15993855,15986189,15983622,15974579,15965993,15953488,15940302,15940301,15940296,15939518,15908092,15905633,15905629,15893580,15882779,15880108,15879594,15867649,15867107,15867106,15863794,15862212,15852063,15850737,15849387,15845322,15842033,15840420,15834221,15832033,15824745,15806583,15804387,15758168,15741482,15729746,15728438,15722951,15719397,15699291,15691525,15690467,15670397,15666036,15657646,15654505,16829782,16822601,16819620,16804504,16801378,16787706,16770336,16756688,16741214,16732845,16721604,16702982,16698432,16691588,16691130,16690085,16679343,16674932,16642437,16623937,16618266,16616719,16614302,16604301,16601320,16583440,16583436,16582043,16580768,16541086,16538180,16536124,16527819,16525856,16525076,16515395,16510244,16497275,16491645,16481140,16464506,16464220,16459126,16458264,16449418,16443280,16432527,15642926,15635592,15634764,15630076,15627807,15621215,15610939,15592465,15589566,15581469,15578606,15572182,15570522,15563601,15546263,15542698,15539857,15523490,15521831,15520364,15489334,15475734,15450911,15370155,15354180,15346539,15341275,15337646,15322730,15318112,15318027,15318024,15313842,15312818,15312441,15292674,15274038,15274037,15272632,15263905,15241435,15229244,15226315,15211642,15211560,15188158,15187981,15172105,15168220,15167705,15167699,15158011,15148564,15138209,15135235,15123389,15121487,15118354,15111989,15108187,15094787,15091312,15066703,15059929,15052272,15048689,15048655,15048645,15048639,15048635,15041087,15037864,15005715,15000807,15635638,12097805,12090814,12082589,12081984,12068552,12057823,12018177,12003247,11992558,11983186,11979062,11950504,11927194,11925279,11920858,11920155,11913731,11900612,11872329,11840315,11817517,11803526,11803453,11803447,11775000,11772685,11702061,11702016,11690601,11684336,11602033,11583250,11578639,11559314,11543734,11525423,11490436,11449399,11449397,11442897,11425009,11412868,11409697,11408789,11386982,11353442,11343598,11335745,11326308,11326306,11324940,11317229,11317220,11311507,11311448,11300730,11298795,11279528,11244478,11240581,11239910,11236836,11190480,11166082,11166081,11140838,11121194,11113619,11071889,11044587,11027924,10713891,10666888,10579573,10391209,10364189,9326263,8788073,8632190,12111622,12098489,8602004,8452685,7865169,7789954,7684072,12915525,12898578,12886033,12877393,12877392,12876460,12874600,12872203,12869766,12869649,12860364,12855229,12851635,12824740,12808427,12782968,12763299,12760255,12759157,12749731,12746735,12711403,12707931,12692777,12668354,12658617,12658362,12630565,12629534,12629533,12627465,12607224,12605580,12605095,12599191,12582974,12573307,12563545,14998889,14992987,14992979,14966478,14757594,14745247,14744464,14735161,14714116,14706424,14668201,14660642,14659987,14653304,14634838,14625025,14624186,14612228,14604448,14593433,14593431,14592408,14583797,14574222,14573315,14573314,14530202,14512208,14508012,14506400,12966525,12962916,12955294,12944272,12942632,12556912,12534269,12524160,12497618,12477932,12476327,12431765,12422060,12399942,12390616,12378120,12374640,12374478,12351926,12232786,12232775,12218661,12218660,12218657,12208565,12192626,12188031,12175857,12173460,12145795,12140775,12135035,12130784 1580639,1358567,1624295 6532 AAB26687 NM_001045,AC104984,AF233399,CH471159,CS008504,U79746,X76753,X76754,X76755,X76756,X76757,X76758,X76759,X76760,X76761,X76762,AA700070,AU138385,AY902473,BC069484,BQ017027,BX399758,L05568,X70697 NP_001036,AAF61945,EAW51223,CAI53631,AAB93475,AAW80933,AAH69484,AAA35492,AAB26687,P31645,Q5EE02,Q9NYN7,CAA50029 Hs.591192 GDB:134713 5-HTT|5HTT|HTT|OCD1|SERT|hSERT solute carrier family 6, member 4 protein-coding 732915 SLC6A5 solute carrier family 6 (neurotransmitter transporter, glycine), member 5 1580863 12738009,9845349,16884688,16751771,16691125,15489334,15124103,14675166,12477932,12091465,11709067,11036075,10606742,10381548 9152 NM_004211,AC090707,CH471064,AA625644,AF085412,AF117999,AF142501,AF352733,BC096319,BC096320,BC096321,BC096322 NP_004202,EAW68330,AAC95145,AAK12641,AAD27892,AAK29670,AAH96319,AAH96320,AAH96321,AAH96322,Q4VAM4,Q4VAM5,Q4VAM6,Q9Y345 Hs.136557 GDB:9954391 GLYT2|NET1 protein-coding 69004 SLC6A6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 1580863 8010975,16956961,16356117,15907840,15630186,15225620,15166008,12681485,12477932,12163498,12062416,8889548,8654117,8382624,1518851 6533 AAB25509 NM_003043,AC090941,AC090952,AC093496,CH471055,AB209172,AF346763,BC006252,BC111489,BC137128,BC137129,BM149397,BM873716,BM981004,BQ945675,BU625571,BX478649,BX509263,BX510251,CD366732,U09220,U16120,Z18956 NP_003034,EAW64192,EAW64193,EAW64194,EAW64195,BAD92409,AAK30132,AAH06252,AAI11490,AAI37129,AAI37130,AAC50443,AAA50842,CAA79481,AAB25509,P31641,Q59GD7,Q9BRI2 Hs.529488 GDB:138783 MGC10619|MGC131729|TAUT solute carrier family 6, member 6 protein-coding 1344650 SLC6A6P solute carrier family 6, member 6 pseudogene 10830953 54019 NG_000901,AP000855,AP001675 GDB:10796444 pseudo 734004 SLC6A7 solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. 1580863 7651355,15489334,14702039,12477932,8889548,7797577 6534 BM682856,S80071,NM_014228,AC005895,CH471062,AK096607,BC069631,BC093785,BC113425 AAB47007,Q99884,NP_055043,EAW61743,EAW61744,AAH69631,AAH93785,AAI13426 Hs.241597 GDB:386118 PROT protein-coding 1342978 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. 1600037,1580863 7953292,8661155,18461508,18443316,17603797,17101918,16738945,16086185,16049011,16036218,15489334,15338463,15154114,12477932,12219031,12210795,11898126,11326334,11063724,8661037,7945388,7774949,7622069 1600037 6535 NM_005629,U36341,Z66539,AB209704,BC012355,BC081558,BE207407,CX788315,L31409,S74039,U17986 NP_005620,AAA79507,CAA91442,BAD92941,AAH12355,AAH81558,AAC41688,AAB32284,AAA86990,P48029,Q13032,Q59EV7,ABM83232,ABM86431 Hs.540696 GDB:434311 CRT|CRTR|CT1|MGC87396 protein-coding 732096 SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 1580863 8183239,17582620,16841561,16604304,16121932,15146197,12091465,11360303,11159884,10722844,10625616,10606742,8494645,7721869,7587377 6536 NM_001024845,NM_006934,NM_201649,AL139220,CH471059,CR749669,AI884725,CN354684,S70609,S70612 NP_001020016,NP_008865,NP_964012,CAI19428,CAI19429,CAI19430,EAX07054,EAX07055,EAX07056,EAX07057,AAB30784,AAB30785,P48067,Q5TAB8,Q5TAB9,Q5TAC0,AAI56980 Hs.442590 GDB:642128 DKFZp547A1118|GLYT1 glycine transporter 1 protein-coding 736349 SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 1580863 1348489,1718082,17494634,17325243,15631944,15491978,15489334,15086470,15064952,15057823,14702039,12787129,12477932,12388095,12202949,11891586,11665818,10485994 6541 NM_003045,AL596114,CH471075,AA527433,AF078107,AI362952,AK022999,AK124591,AL050021,BC012895,BC033200,BC063303,BC069358,BC115407,BG248687,BM458630,X57303,X59155 NP_003036,CAI39913,CAI39914,EAX08443,EAX08444,AAC27721,AAH12895,AAH63303,AAH69358,AAI15408,CAA40560,CAA41869,P30825,Q5JR49,Q5JR52,Q96D65 Hs.14846 GDB:127824 ATRC1|CAT-1|ERR|HCAT1|REC1L solute carrier family 7, member 1 protein-coding 731925 SLC7A10 solute carrier family 7, (neutral amino acid transporter, y+ system) member 10 SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM] 1580863 10863037,10734121,15489334,15458438,12477932,11509015,11441184 56301 NM_019849,AC008738,AF340165,AB037670,AJ277731,AK000846,BC022457,BC035627 NP_062823,AAK93960,BAB03213,CAC81900,BAA91397,AAH35627,Q9NS82,Q9NWI3 Hs.58679 GDB:10796630 FLJ20839|HASC-1|asc-1 protein-coding 1319531 SLC7A11 solute carrier family 7, (cationic amino acid transporter, y+ system) member 11 SLC7A11 is a member of a heteromeric Na(+)-independent anionic amino acid transport system highly specific for cystine and glutamate. In this system, designated system Xc(-), the anionic form of cystine is transported in exchange for glutamate.[supplied by OMIM] 1580863 10206947,17081983,16574866,15489334,15326101,15151999,14722095,12763038,12477932,12235164,11417227,11406111,11302733,11213471,11133847,16189514 23657 NM_014331,AB042201,AC093903,AC110804,AC116610,CH471056,AB026891,AB040875,AF200708,AF252872,AJ277882,AK290359,BC012087,BC041925,CD639041 NP_055146,BAA94999,AAY41053,EAX05135,BAA82628,BAB40574,AAG35592,AAK49111,CAC81905,BAF83048,AAH12087,Q4W5A5,Q9BYH2,Q9P1X0,Q9UPY5 Hs.390594 GDB:10796632 CCBR1|xCT protein-coding 1323193 SLC7A13 solute carrier family 7, (cationic amino acid transporter, y+ system) member 13 1580863 14702039,12477932,11943479,11907033 157724 NM_138817,AC084128,CH471060,AJ417661,AK055815,BC029436,BC125165,BC125166 NP_620172,EAW91633,CAD10393,BAB71021,AAH29436,AAI25166,AAI25167,Q8TCU3 Hs.149095 AGT-1|AGT1|MGC150476|MGC150477|XAT2 protein-coding 1605648 SLC7A14 solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 16344560,14702039,12477932,10997877 57709 NM_020949,XM_930209,XM_001723366,XM_941578,AC008041,CH471052,AB046833,AK094547,AK122655,BC022968,CR599969,DA475001,N64525 NP_066000,XP_935302,XP_001723418,XP_946671,EAW78510,BAB13439,BAC04377,AAH22968,Q8TBB6 Hs.674783 FLJ37228|KIAA1613 protein-coding 68562 SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 1580863 8954799,16344560,15489334,15064952,12787129,12477932,11665818,9174363 6542 NM_003046,NM_001008539,AB020863,CH471080,AA724796,AI275549,AI458117,AL512749,AL832016,BC069648,BC104905,BC113661,CB216457,D29990,DB237902,U76368,U76369 NP_003037,NP_001008539,EAW63812,EAW63813,EAW63814,EAW63815,CAD89909,AAH69648,AAI04906,AAI13662,BAA06271,AAB62810,AAB62811,P52569,Q86TC6 Hs.448520 GDB:127825 ATRC2|CAT-2|HCAT2 solute carrier family 7, member 3 protein-coding 733970 SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 SLC7A3 is a member of the system y+ family of transporters characterized by sodium-independent transport of cationic amino acids.[supplied by OMIM] 16332251,16303743,15737334,15489334,14702039,12477932,11591158,10446328,9334265,9079705 84889 BC033816,CR601875,NM_032803,NM_001048164,AL627071,CH471132,CQ783812,AF320612,AK027447,AK074865,AK075014 AAH33816,Q5JQR2,Q8WY07,ABM81811,ABM84965,NP_116192,NP_001041629,CAI40156,EAX05329,EAX05330,CAF86874,AAL37184,BAB55118,BAC11253,BAC11353 Hs.175220 GDB:9772229 ATRC3|CAT-3|FLJ14541|MGC20687 solute carrier family 7, member 3 protein-coding 1314214 SLC7A4 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 1580863 9598310,17051526,15489334,15461802,12477932,12049641,11665818,9754584,10700465 6545 NM_004173,AC002472,AJ009516,CH471176,AJ000730,BC008814,BC062565,BC107160,BC107161,CR456580 NP_004164,CAA08723,EAX02909,CAA04263,AAH08814,AAH62565,AAI07161,AAI07162,CAG30466,O43246,CAK54608,CAK54907,ABM83599,ABM86826 Hs.197116 GDB:9767963 CAT-4|CAT4|HCAT3|MGC129976|MGC129977|VH protein-coding 1354186 SLC7A5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 1580863 9751058,18294274,18253116,17622555,17558306,16496379,16175382,16097034,15900591,15769744,15589117,15489334,15302935,15178563,12925876,12824232,12477932,12225859,12117417,12009310,11557028,11535130,11311135,11095508,10629848,10568788,10072483,10049700,9878049,9829974,7829099,1597461,8922468,7561057,9403839,15200428 8140 NM_003486,AB023721,AC126696,AM182888,CH471114,AB017908,AB018009,AB018542,AF077866,AF104032,BC014177,BC039692,BC042600,BC114608,CR594130,CR601601,CR625513,M80244 NP_003477,BAB70708,CAJ58680,EAW95373,EAW95374,EAW95375,BAA75746,BAA84648,BAA33851,AAC61479,AAD20464,AAH39692,AAH42600,AAA35780,Q01650,Q2MCL6,Q8IV97,Q8MH63,Q96QB2,ABM84264,ABM87765 Hs.513797 GDB:9315114 4F2LC|CD98|D16S469E|E16|LAT1|MPE16|hLAT1 protein-coding 1603607 SLC7A5P1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 pseudogene 1 This locus represents a transcribed pseudogene of the L-type amino acid transporter 1. 15146197,14702039,12477932,12009310,10493829 81893 AC009086,NR_002593 DC49|LAT1-3TM|MLAS|hLAT1-3TM pseudo 1319397 SLC7A6 solute carrier family 7 (cationic amino acid transporter, y+ system), member 6 1580863 9829974,15342556,12477932,9878049,9039502 9057 NM_001076785,NM_003983,D87432,AC020978,CH471092,BC028216,BC113100,BP242589,CR592629,CR601248,CR606394,CR613948,CR623370,CR749291,CR749475 NP_001070253,BAA13376,A0AUM0,Q68DB5,Q68DS4,Q7L1N3,Q92536,ABM81949,ABM85129,NP_003974,EAW83219,EAW83220,AAH28216,AAI13101,CAH18146,CAH18305 Hs.653193,Hs.700614 GDB:9785348 DKFZp686K15246|KIAA0245|LAT-2|LAT3|y+LAT-2 protein-coding 1602091 SLC7A6OS solute carrier family 7, member 6 opposite strand 15640104,14702039,12477932,9373149,8125298 84138 NM_032178,AC020978,CH471092,AK023353,AK091674,AK225712,AY078070,BC013778,CR591193,CR603398 NP_115554,EAW83222,EAW83223,BAB14538,AAL79958,AAH13778,Q96CW6 Hs.653193 FLJ13291 protein-coding 733448 SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Several transcript variants encoding the same protein have been found for this gene. 1624296,1580863 9829974,17764084,17666782,17530437,17196863,16344560,15776427,15756301,15489334,12589791,12477932,12402335,10737982,10655553,10631139,10080183,9878049,9199570 1624296 9056 NM_003982,NM_001126105,NM_001126106,AB031537,AL135998,CH471078,AB011263,AB020532,AB209591,AF092032,AJ130718,AK025377,AL365450,AL365451,AL365452,BC003062,BC010107,BX161519,BX248291,CR601579,CR605487,CR613648,CR617040,CR626419,DA044956,DA638578,Y18474 NP_003973,NP_001119577,NP_001119578,BAA95120,EAW66245,EAW66246,EAW66247,EAW66248,BAB11849,BAA87623,BAD92828,AAC83706,CAA10198,AAH03062,AAH10107,CAD61952,CAD62619,CAB40136,Q53XC1,Q59F70,Q86U07,Q9UM01,ABM82761,ABM85947 Hs.513147 GDB:9863033 LAT3|LPI|MOP-2|Y+LAT1|y+LAT-1 protein-coding 1345085 SLC7A8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 1580863 10391915,17558306,15769744,15489334,14702039,12716892,12477932,11311135,10610726,10574970,10080183,9373149,8125298 23428 NM_012244,NM_182728,AL117258,CH471078,AB037669,AF087908,AF087911,AF135828,AF135829,AF135830,AF171669,AK094550,AK223610,AL365342,AL365343,AL365344,AL365345,AL365346,AL365414,BC036825,BC052250,BX248288,Y18483 NP_036376,NP_877392,EAW66181,EAW66182,BAB21519,AAP97206,AAP97208,AAF05695,AAF05696,AAF05697,AAF20381,BAD97330,AAH36825,AAH52250,CAD62616,CAB40137,Q53EM9,Q7Z4Z3,Q7Z4Z5,Q86U05,Q8N424,Q9UHI5 Hs.632348 GDB:9956545 LAT2|LPI-PC1 protein-coding 734403 SLC7A9 solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Two transcript variants, which encode the same protein, have been found for this gene. 737767,1580863 10471498,10799513,17710781,17701443,16838140,16801163,16609684,16138908,15818803,15818799,15635077,15499206,15489334,15342556,14991253,14531788,12820697,12779097,12477932,12371955,12239244,12234283,12167606,11318953,11157794,10588648,9373149,9042922,9042921,8889548,8125298 737767 11136 NM_014270,NM_001126335,AC008805,AF421181,AB033548,AF141289,AJ249199,AK026446,AK223147,AK313708,AL365340,AL365341,AY170373,BC017962,BC029802,BP276659,CK300669 NP_055085,NP_001119807,AAN40878,BAB16840,AAD55898,CAB54003,BAD96867,BAG36453,AAH17962,P82251,Q53FY4,ABM82932,ABM86121 Hs.408567 GDB:9958852 BAT1|CSNU3|FLJ94301 protein-coding 731021 SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1 In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM] 727449,1580732,1580863,1642711,1598724,1580586,1642714,1642717,1642720,1642725,1642713,1642716,1642729 1374913,17846126,17541957,16921169,16679322,16399865,16314582,16292983,15824464,15785003,15703175,15557343,15033764,14981087,14736881,14702039,14593108,12502539,12477932,12031969,11916852,11821059,11350050,11241183,10536662,9847074,9516469,8921376,8790037,8485996,1647256,1559714,1476165,15475962 727449,1580732,1642711,1598724,1580586,1642714,1642717,1642720,1642725,1642713,1642716,1642729 6546 NM_021097,NM_001112800,NM_001112801,NM_001112802,AC007254,AC007281,AC007377,AC093586,CH471053,X91213,AB209075,AF108388,AF108389,AF115505,AF128524,AK095013,AK125406,AK291696,BC098285,BC098308,BC098345,BX537482,BX648299,M91368,M96368,X91221,X91815,Y12878,Y12885,Y13032,Y13033 NP_066920,NP_001106271,NP_001106272,NP_001106273,AAF19237,AAX81985,EAX00331,EAX00332,EAX00333,EAX00334,EAX00335,EAX00336,BAD92312,AAF08987,AAF08988,AAD17213,AAD26362,AAF19235,BAF84385,AAH98285,AAH98308,CAD97765,AAA35702,CAA62923,CAA73378,CAA73386,CAA73477,CAA73478,P32418,Q14913,Q4QQG6,Q4QQH3,Q587I6,Q59GN4,Q6LAJ8,Q6LAJ9,Q7Z686,Q9UD55,AAI56360 Hs.31961,Hs.468274,Hs.648402,Hs.656261 GDB:128663 DKFZp779F0871|FLJ37694|FLJ43417|MGC119581|NCX1 protein-coding 731774 SLC8A2 solute carrier family 8 (sodium-calcium exchanger), member 2 730182,1580863 16679322,15557343,10470851,8021246 730182 6543 NM_015063,AC073548,CH471126,AB029010,AL512764 NP_055878,EAW57484,EAW57485,EAW57486,BAA83039,CAC21681,Q9H021,Q9UPR5 Hs.172884 GDB:375725 NCX2 solute carrier family 8 (sodium/calcium exchanger), member 2 protein-coding 732656 SLC8A3 solute carrier family 8 (sodium-calcium exchanger), member 3 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Three mammalian isoforms in family 8 have been identified. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. 730187,1580863 16679322,16306395,15777725,15557343,15247490,14722618,14702039,12558991,12502570,12477932,12406570,10390518,9195292,8921376,8798769 730187 6547 AJ745101,AJ745102,AK096553,AK122728,BC023215,AJ508602,BC036783,BC114217,BC142969,BC150183,BC150193,BI551720,BI906774,BX248763,NM_183002,NM_058240,NM_033262,NM_182936,AF508982,AL135747,AL160191,CH471061,X93017,AF510501,AF510502,AF510503,AJ304852,AJ304853,NM_182932 CAD48420,CAG33739,CAG33740,AAI14218,AAI42970,AAI50184,AAI50194,CAD66570,P57103,Q29RF8,Q5K3P6,Q5K3P7,Q86TQ9,Q86Y47,Q96QG1,Q96QG2,AAI60014,NP_891977,NP_892114,NP_489479,NP_150287,NP_891981,AAM90955,EAW81018,EAW81019,EAW81020,EAW81021,EAW81022,EAW81023,EAW81024,EAW81025,EAW81026,AAN60790,AAN60791,AAN60792,CAC40984,CAC40985 Hs.337696 GDB:9767964 NCX3 solute carrier family 8 (sodium/calcium exchanger), member 3 protein-coding 736585 SLC9A1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive) 1625560,1625563,727424,1580863 8283968,18094149,18003619,17982256,17981808,17916606,17913870,17894388,17662110,17565280,17349711,17339567,17332506,17209041,17050540,16861220,16710414,16710297,16511206,17167226,17073455,16475831,16306134,16189514,16002403,15843433,15823043,15772858,15677483,15610042,15535843,15523538,15489334,15465015,15269707,15253667,15096511,15035633,14702039,14680478,12905871,12809501,12765964,12682826,12626508,12598940,12576672,12562776,12549930,12479094,12477932,12226101,12138085,12065894,11852051,11696366,11604491,11369779,11350981,11279064,11163215,10913675,10713111,9688597,8901634,8068684,2846238,2536298,2154036,1979310,1712287 1625560,1625563,727424 6548 AF141356,AF141357,AF141358,AF141359,AF146430,AF146431,AF146432,AF146433,AF146434,AF146435,AF146436,AF146437,AF146438,AF146439,AK124218,BC012121,M81768,M96066,M96067,S68616,NM_003047,AL137860,AL590640,CH471059,AF141350,AF141351,AF141352,AF141353,AF141354,AF141355 AAF21356,AAF21357,AAF21358,AAF21359,AAF25592,AAF25593,AAF25594,AAF25595,AAF25596,AAF25597,AAF25598,AAF25599,AAF25600,AAF25601,AAH12121,AAB59460,AAC60606,P19634,Q5TBB2,Q5TBB3,Q5VU07,NP_003038,CAI22086,CAI22087,CAI22088,CAI22089,CAI22090,CAH73554,CAH73555,CAH73556,EAX07773,EAX07774,EAX07775,AAF21350,AAF21351,AAF21352,AAF21353,AAF21354,AAF21355 Hs.469116 GDB:119683 APNH|FLJ42224|NHE1 solute carrier family 9, member 1 protein-coding 1351436 SLC9A10 solute carrier family 9, member 10 1580863 14634667,12783626,12477932 285335 NM_183061,AC119734,AC128688,CH471052,AK128084,BC044801,BK001328 NP_898884,EAW79679,BAC87265,AAH44801,DAA01462,Q4G0N8 Hs.680112 solute carrier family 9, isoform 10 protein-coding 1354032 SLC9A11 solute carrier family 9, member 11 12477932 284525 BX648119,NM_178527,AL139142,CH471067,AK128104,BC042592 Q5TAH2,NP_848622,CAI20938,EAW90946,EAW90947,EAW90948,AAH42592 Hs.494981 MGC43026|RP3-436N22.2 protein-coding 730959 SLC9A2 solute carrier family 9 (sodium/hydrogen exchanger), member 2 1580863 7683411,17881426,17561809,16982955,15815621,15664417,12477932,11408268,11350981,11254504,10579058,10444453,10187839,9847074,8901634,8843774,8595899,1318024 6549 NM_003048,AC007239,CH471127,AA843986,AF073299,AK129936,BC035787,S83549 NP_003039,AAF19248,EAX01788,EAX01789,AAD41635,AAB50820,O00618,Q9UBY0 Hs.250083 GDB:132596 NHE2 protein-coding 730978 SLC9A3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 727424,1580740,1625672,1625673,1580863,727447 15489334,15201541,15197272,15070904,14580213,14531806,12799307,12763917,12665801,12576672,12542207,12477932,12397398,12167607,11841999,11408268,10506918,10452823,10364184,9748260,8901634,8843774,8795445,8096830,1577762,18085326,17881426,17540780,17307723,17276988,16971495,16760259,16464174,15911629,15754324,15531580,7631746 727424,1580740,1625672,1625673,727447 6550 NM_004174,AC010442,AC106772,CH471235,BC011555,BC101669,BC101671,S83545,U28043 NP_004165,EAW51006,EAW51007,AAI01670,AAI01672,AAB50819,AAB48990,O00617,P48764 Hs.658120 GDB:132597 MGC126718|MGC126720|NHE3 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 protein-coding 1351479 SLC9A3P solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 8833252,8199403 6551 NG_006095,AL450382 GDB:1220158 NHE3P solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene pseudo 1351319 SLC9A3P2 solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 2 128997 NG_005203,AC007050 GDB:11510754 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 pseudogene 2 pseudo 1625826 SLC9A3P3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 3 728990 NG_006098,AL442003 pseudo 1625810 SLC9A3P4 solute carrier family 9 (sodium/hydrogen exchanger), member 3 pseudogene 4 389963 NG_006096,AL954360 pseudo 1342625 SLC9A3R1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 Members of the ezrin (VIL2; MIM 123900)-radixin (RDX; MIM 179410)-moesin (MSN; MIM 309845) (ERM) protein family are highly concentrated in the apical aspect of polarized epithelial cells. These cells are studded with microvilli containing bundles of actin filaments, which must attach to the membrane to assemble and maintain the microvilli. The ERM proteins, together with merlin, the NF2 (MIM 607379) gene product, are thought to be linkers between integral membrane and cytoskeletal proteins, and they bind directly to actin in vitro. Actin cytoskeleton reorganization requires the activation of a sodium/hydrogen exchanger (SLC9A3; MIM 182307). SLC9A3R1 is an ERM-binding protein.[supplied by OMIM] 1580863 9560162,11285285,12471024,9430655,17982258,17911601,17895247,17884816,17613530,17602283,17593079,17332506,17242191,17237149,17081983,17078868,16615918,16519819,16129695,15805108,15489334,15467753,15302935,15161943,15070904,14744877,14702039,14608357,14604981,14580213,14531806,14507927,12920119,12830000,12665801,12651858,12626493,12615054,12499563,12477932,12444018,12403779,12369822,12193606,12145337,12080081,12075354,12004055,11967229,11956211,11893083,11882663,11684085,11352585,11304524,11099500,11046132,10980202,10852925,10748165,10562288,10499588,10446210,9677412,9671706,9613608,9314537,9096337,7738182,12954600,12621035 9368 NM_004252,AC016888,CH471099,AF015926,AF036241,AK026581,AK094467,AK128474,BC001443,BC003361,BC011777,BC049220,BC053350,BX648303,CR590385,CR592944,CR604532,CR609447,CR613953,CR620214,CR620434 NP_004243,EAW89189,EAW89190,EAW89191,AAC52084,AAC04572,AAH01443,AAH03361,AAH11777,AAH49220,AAH53350,O14745 Hs.396783,Hs.709444 GDB:9956095 EBP50|NHERF|NHERF1 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1 protein-coding 733001 SLC9A3R2 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 NHE3 (SLC9A3; MIM 182307) is a sodium/hydrogen exchanger in the brush border membrane of the proximal tubule, small intestine, and colon that plays a major role in transepithelial sodium absorption. SLC9A3R2, as well as SLC9A3R1 (MIM 604990) and protein kinase A phosphorylation, may play a role in NHE3 regulation.[supplied by OMIM] 1580741,1580863 11786550,9748260,9054412,17229887,16615918,16166090,15728708,15665527,15616553,15489334,15302935,14623317,12954600,12499563,12477932,12444200,12387817,12369822,12080047,12075354,11948184,11893083,11751930,11285285,11118213,10893422,10748023,10455146,9831664,9671706,9314537,9096337,14531806,14604981,15642748,11997330,11457882 1580741 9351 CR617760,U82108,Z50150,AB014460,AB016243,AC005600,AC093513,CH471112,AF004900,AF035771,BC014513,BC069014,BC106001,CR593583,NM_004785 AAB53042,CAA90511,Q15599,Q6NTG0,NP_004776,BAA32696,BAA33216,AAC34208,EAW85563,EAW85564,EAW85565,EAW85566,AAC63061,AAC52090,AAH14513,AAH69014,AAI06002 Hs.440896 GDB:9956041 E3KARP|MGC104639|NHE3RF2|NHERF-2|NHERF2|OCTS2|SIP-1|SIP1|TKA-1 solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2 protein-coding 1606087 SLC9A4 solute carrier family 9 (sodium/hydrogen exchanger), member 4 16344560,12576672,8199403 389015 NM_001011552,AC007278,CH471127,AL833048,CR627411,DA442134 NP_001011552,EAX01790,CAH10600,CAH10500,Q6AI14 Hs.447686 GDB:303965 DKFZp313B031|NHE4 protein-coding 732088 SLC9A5 solute carrier family 9 (sodium/hydrogen exchanger), member 5 634199,1580863,1643221 14702039,12598940,9933641,16920332,15699339,12576672,12417987,12205089,9933642,7759094 634199,1643221 6553 NM_004594,AC040160,CH471092,U08607,AB209203,AF111173,AK021876,AK091748,AL137689,BC142671,BC150207,DB475730 NP_004585,EAW83114,EAW83115,EAW83116,AAA87678,BAD92440,AAC98696,CAB70875,AAI42672,Q14940,Q59GA6,Q9NSW9 Hs.439650 GDB:407637 NHE5 solute carrier family 9 (sodium/hydrogen exchanger), isoform 5 protein-coding 1352693 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger (NHE) that is found in the membranes of intracellular organelles such as mitochondria and endosomes. NHEs participate in a wide array of essential cellular processes, including control of intracellular pH, maintenance of cellular volume, and reabsorption of sodium across renal, intestinal, and other epithelia.[supplied by OMIM] 1580863 9507001,18342287,18057008,12477932,11940519,11707463,11641397,11279194,9039502 10479 NM_001042537,NM_006359,AL732579,CH471150,AB074255,AF030409,AK289775,BC035029,BC047375,BC049169,D87743,DB483081,R15803 NP_001036002,NP_006350,CAI39923,CAI39924,CAI39925,EAW88481,EAW88482,BAB72002,AAC39643,BAF82464,AAH35029,AAH49169,BAA13449,Q3ZCW7,Q5JPP8,Q5JPP9,Q86VS0,Q8WYK8,Q92581 Hs.62185 GDB:9785414 KIAA0267|NHE6 solute carrier family 9 (sodium/hydrogen exchanger), isoform 6 protein-coding 1350922 SLC9A7 solute carrier family 9 (sodium/hydrogen exchanger), member 7 Organelles of the secretory and endocytic pathways are distinguished by their luminal acidity, which is generated by the activity of an electrogenic vacuolar-type hydrogen ATPase. Progressive acidification of vesicles in the endocytic pathway is essential for the redistribution and degradation of internalized membrane proteins, such as ligand receptor complexes and fluid-phase solutes. This gene is expressed predominantly in the trans-Golgi network, and mediates the influx of sodium or potassium in exchange for hydrogen. It may thus play an important role in maintaining cation homeostasis and function of the trans-Golgi network. This gene is part of a gene cluster on chromosome Xp11.23. 1580863 11279194,15840657,15772651,14702039,12477932,11944989 84679 AL022165,NM_032591,AL050307,AL162583,AL512633,CH471164,AF298591,AK056599,BC094742 NP_115980,CAI43029,EAW59270,EAW59271,EAW59272,EAW59273,AAK54508,Q96T83,AAI57024 Hs.496057 GDB:11504575 NHE7|SLC9A6 protein-coding 1317829 SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8 18209477,17881426,17081983,15522866,14702039,12845533,12477932,12409279,12168954,11780052,10231032 23315 NM_015266,AL031685,AL162615,CH471077,CQ834456,AB023156,AK124491,AK131001,AL049469,AL833574,BC112213,BX424838,BX430866,CR749638 NP_056081,CAI23460,EAW75647,EAW75648,EAW75649,EAW75650,EAW75651,EAW75652,CAH05443,BAA76783,BAC85475,AAI12214,CAH18432,Q2M1U9,Q9Y2E8 Hs.444202 DKFZp686C03237|FLJ42500|KIAA0939|MGC138418|NHE8 protein-coding 1314947 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 1580863 15522866,15489334,14702039,14569117,12477932 285195 AC016934,AC073242,AC073358,AC107421,AC116423,AC131210,CH471052,AB075486,AB089794,AK092932,AL832304,AY254100,BC035779,NM_173653 EAW78950,EAW78951,BAE45746,BAD69592,BAC04005,CAI46158,AAP80573,AAH35779,Q3LIC2,Q5JPI6,Q5WA58,Q8IVB4,NP_775924 Hs.302257 FLJ35613|NHE9|Nbla00118 solute carrier family 9 (sodium/hydrogen exchanger), isoform 9 protein-coding 1607085 SLCO1A2 solute carrier organic anion transporter family, member 1A2 This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternate splicing of this gene results in three transcript variants encoding two different isoforms. 9007731,16344560,15832500,15632119,12477932,11238933,10873595,10779507,9539145,9398014,9328325,7557095 6579 NM_134431,NM_021094,NM_005075,AC006559,AC022224,AJ400735,CH471094,Y08062,AF085224,AF279784,BC042452,DA184882,DA220201,DA322842,U21943,DA412674 NP_602307,NP_066580,NP_005066,CAB97006,EAW96422,EAW96423,EAW96424,EAW96425,CAB64372,AAD52694,AAG30037,AAH42452,AAA87732,P46721,Q8IV69 Hs.46440 OATP|OATP-A|OATP1A2|SLC21A3 protein-coding 1344263 SLCO1B1 solute carrier organic anion transporter family, member 1B1 1580863 15548849,15535988,15519273,15319464,15226675,15116054,12811365,12670950,12490595,12477932,12196548,12130747,11483603,11477075,11134001,10873595,10779507,10706707,10644574,10601278,17108811,17047488,16917677,16906022,16847425,16796707,16784736,16758257,16722833,16678545,16678544,16568260,16542205,16534140,16515396,16513443,16198653,16198652,16004557,15961978,15952872,15864131,15864125,10358072,18443034,18408565,18399713,18221820,18192894,18187595,18185926,18159134,18154446,17996736,17989996,17973861,17932728,17923851,17906856,17885626,17883959,17766002,17641954,17635496,17622941,17568401,17496208,17473846,17460607,17439540,17415554,17412826 10599 NM_006446,AC022335,AJ400749,AJ400750,AJ400751,AJ400752,AJ400753,AJ400754,AJ400755,AJ400756,AJ400757,AJ400758,AJ400759,AJ400760,AJ400761,AJ400762,AY945934,CH471094,CS172507,AB026257,AF060500,AF205071,AJ132573,BC005243,BC020696,BC054878,BC070172,BC105596,BC114376 NP_006437,CAB97007,AAX20114,EAW96420,EAW96421,CAJ33680,BAA78639,AAD38323,AAF20212,CAB62577,AAH20696,AAH54878,AAH70172,AAI05597,AAI14377,Q05CV5,Q0VGM0,Q29R64,Q6NSF9,Q7Z4M3,Q9Y6L6 Hs.449738 LST-1|MGC133282|OATP-C|OATP1B1|OATP2|SLC21A6 protein-coding 1350750 SLCO1B3 solute carrier organic anion transporter family, member 1B3 1580863 11159893,10779507,18294295,18082941,17906856,17760952,17496208,17412826,17186002,16877380,16741617,16534140,15226676,15159445,14739090,14702039,12695556,12477932,12055601,11677211,11375950 28234 NM_019844,AC011604,AJ400763,AJ400764,AJ400765,AJ400766,AJ400767,AJ400768,AJ400769,AJ400770,AJ400771,AJ400772,AJ400773,AJ400774,AJ400775,AJ400776,CH471094,AF187815,AJ251506,AK055874,AY257471,AY342017,AY442325,AY442326,BC022843,BC058006,BC070264,BC105597,CR594924 NP_062818,CAB97008,EAW96413,EAW96414,EAW96415,AAG43445,CAB96997,AAP81212,AAQ19672,AAS01767,AAS01768,AAH22843,AAH70264,AAI05598,Q0VGL9,Q5JAR4,Q6NSD0,Q7Z454,Q9NPD5,AAI41526 Hs.504966 LST-3TM13|LST3|OATP1B3|OATP8|SLC21A8 protein-coding 731528 SLCO1C1 solute carrier organic anion transporter family, member 1C1 1580863,634158 15489334,12923172,12830001,12702494,12477932,12351693,12130705 634158 53919 NM_017435,AC092491,CH471094,AF205076,AF260704,BC022461,CR594946,AL834209 NP_059131,EAW96411,EAW96412,AAG42208,AAF70338,AAH22461,Q5JPA4,Q9NYB5,CAI46209,ABW03661 Hs.47261 OATP-F|OATP1|OATP1C1|SLC21A14 solute carrier family 21 (organic anion transporter), member 14 protein-coding 736966 SLCO2A1 solute carrier organic anion transporter family, member 2A1 1580863 8787677,16344560,16339169,15864125,12477932,9832484,9618293 6578 NM_005630,AB201109,AB201110,AB201111,AC080128,AC117475,AF056732,CH471052,BC041140,BC051347,BU783445,CR596338,DA592947,U70867 NP_005621,BAE03223,BAE03224,BAE03225,AAC62004,EAW79156,AAH41140,AAH51347,AAC09469,Q4LEJ8,Q4LEJ9,Q8IUN2,Q92959 Hs.518270 OATP2A1|PGT|SLC21A2 matrin f/g 1 protein-coding 736486 SLCO2B1 solute carrier organic anion transporter family, member 2B1 1580863 17906856,16908597,16754786,15489334,15226675,12477932,12409283,12130747,11932330,10873595,10048485 11309 NM_007256,AP001972,CH471076,CQ969225,AB020687,AB026256,AF205073,AK290234,AL117465,AL833466,BC041095 NP_009187,EAW74956,EAW74957,EAW74958,CAI38409,BAA74903,BAA78638,AAG42205,BAF82923,CAB55940,CAH56206,AAH41095,O94956,Q658P4 Hs.7884 DKFZp686E0517|KIAA0880|OATP-B|OATP2B1|OATPB|SLC21A9 protein-coding 733471 SLCO3A1 solute carrier organic anion transporter family, member 3A1 1580863 16971491,15489334,14702039,14631946,12542534,12495658,12477932,10873595 28232 AC104020,AC104236,AC113190,AC116903,AC135996,CH471101,CQ969229,AB031050,AF187816,AF205074,AK057031,AK097797,AK290872,BC000585,NM_013272 NP_037404,EAX02146,EAX02147,EAX02148,CAI38411,BAA89287,AAG43446,AAG42206,BAF83561,AAH00585,Q9UIG8,ABM82880,ABM86066 Hs.311187 FLJ40478|OATP-D|OATP3A1|SLC21A11 solute carrier family 21 (organic anion transporter), member 11 protein-coding 735453 SLCO4A1 solute carrier organic anion transporter family, member 4A1 1580863,727314 15994332,15489334,15302935,14702039,12915686,12477932,11780052,11316767,10873595 727314 28231 NM_016354,AL357033,CH471077,CQ969231,AB031051,AF104334,AF187817,AF205072,AI660559,AK000551,AK023410,AK095985,BC015727,BM846201,CR607274,CR616855 NP_057438,ABM83783,ABM87103,CAC14920,CAC14921,EAW75348,EAW75349,EAW75350,EAW75351,CAI38412,BAA89288,AAF15545,AAG43447,AAG42204,BAA91247,BAB14566,AAH15727,Q96BD0 Hs.235782 OATP-E|OATP1|OATP4A1|OATPRP1|POAT|SLC21A12 solute carrier family 21 (organic anion transporter), member 12 protein-coding 1354473 SLCO4C1 solute carrier organic anion transporter family, member 4C1 SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM] 14993604 353189 NM_180991,AC008948,AC099515,CH471086,AF119865,AF401643,AK128854,AY273896,BX647349,BX647577,BX647880 NP_851322,EAW49099,EAW49100,AAF69619,AAQ03086,BAC87647,AAP33047,CAH56201,Q63HP3,Q6ZQN7,Q9P181,AAI48352,AAI52990 Hs.709540 OATP-H|OATP-M1|OATP4C1|OATPX|PRO2176|SLC21A20 protein-coding 1316144 SLCO5A1 solute carrier organic anion transporter family, member 5A1 1580863 14702039,12507753,12477932 81796 NM_030958,AC024680,AC079089,AC091047,CH471068,AF205075,AK022760,AK096879,BC016067,BC137424,BC139755,CR596526 NP_112220,EAW86957,EAW86958,AAG42207,AAH16067,AAI37425,AAI39756,Q6PJF4,Q9H2Y9 Hs.443609 FLJ39560|OATP-J|OATP5A1|OATPRP4|SLC21A15 protein-coding 1353358 SLCO6A1 solute carrier organic anion transporter family, member 6A1 12677006,12477932 133482 NM_173488,AC094108,AC113417,CH471086,AF505657,AK131445,AY273897,BC034976,BM554439 NP_775759,EAW49095,EAW49096,EAW49097,EAW49098,AAP30851,BAD18590,AAP33048,AAH34976,Q86UG4,ABM84485,ABM84968 Hs.388874 GST|MGC26949|OATP6A1|OATPY protein-coding 1349513 SLEB1 systemic lupus erythematosus susceptibility 1 9045876 7833 GDB:9955635 1346708 SLEB2 systemic lupus erythematosus susceptibility 2 10677248 56179 GDB:10796834 1344156 SLEB3 systemic lupus erythematosus susceptibility 3 11078476 64695 GDB:11507871 1348123 SLEH1 systemic lupus erythematosus with hemolytic anemia 1 170682 GDB:11507873 1351659 SLEN1 systemic lupus erythematosus with nephritis 1 12215904 192677 GDB:11507875 1349376 SLEN2 systemic lupus erythematosus with nephritis 2 12215904 192679 GDB:11507877 1347311 SLEN3 systemic lupus erythematosus with nephritis 3 12215904 282849 GDB:11507879 1342797 SLEV1 systemic lupus erythematosus, vitiligo-related 1 11592035 140652 GDB:11507881 1605312 SLFN11 schlafen family member 11 11256614,16381901,15489336,15489334,15342556,14702039,12477932,11230166,11076863,9846487 91607 NM_001104590,AC060766,CH471147,AK074184,AK092241,AL512731,AL831964,BC052586,BM996330,BP245452,BX490030,CB265500,NM_152270,NM_001104589,NM_001104587,NM_001104588 NP_001098058,NP_001098060,EAW80156,EAW80157,EAW80158,BAB85010,BAC03835,CAD38606,AAH52586,Q7Z7L1,CAL38551,AAI41661,NP_689483,NP_001098059,NP_001098057 Hs.462829 FLJ34922|SLFN8/9 protein-coding 1605673 SLFN12 schlafen family member 12 15489334,14702039,12477932,9846487 55106 NM_018042,AC060766,CH471147,AK001122,AK291826,BC035605,BX647081 NP_060512,EAW80154,EAW80155,BAA91512,BAF84515,AAH35605,Q8IYM2 Hs.663548 FLJ10260|SLFN3 protein-coding 2291763 SLFN12L schlafen family member 12-like 9846487 342615 XM_496206,XM_001715511,XM_940936,AC015911,AK172761,BN000147 XP_496206,XP_001715563,XP_946029,CAD80167,Q6IEE8 Hs.447559 protein-coding 1603573 SLFN13 schlafen family member 13 11256614,16381901,15489336,14702039,11230166,11076863,9846487 146857 NM_144682,AK122750,AK126184,AK127728,AL832726,AL833747,CR749630,AC015911,AC060766,CH471147,AK056514,AK074465 NP_653283,BAC87104,CAH56227,CAH18424,Q0JUJ6,Q68D06,CAL37815,EAW80150,EAW80151,EAW80152,EAW80153,BAB71201 Hs.462833 DKFZp666J196|DKFZp686I026|FLJ31952|SLFN10 protein-coding 1602272 SLFN14 schlafen family member 14 9846487 342618 XM_496207,XM_001715630,XM_940940,AC015911,CH471147 XP_496207,XP_001715682,XP_946033,EAW80144 Hs.591193 protein-coding 1603889 SLFN5 schlafen family member 5 15489334,15342556,14702039,12477932,9846487 162394 NM_144975,AC022706,AC022916,CH471147,AK054668,AK075116,AL832814,BC021238,BC125200,BC125201,BP281007,BX102817,BX647942,CD704489 NP_659412,EAW80159,BAB70788,AAH21238,AAI25201,AAI25202,Q08AF3,ABM83860,ABM87182 Hs.14691 MGC150611|MGC150612|MGC19764 protein-coding 1603541 SLFNL1 schlafen-like 1 16710414,15489334,14702039,12477932 200172 NM_144990,AL391730,CH471059,AK074458,AK097609,AK292296,BC022037,BC037879,BC050353 NP_659427,CAH72798,CAH72799,CAH72800,EAX07187,EAX07188,EAX07189,BAB85090,BAC05119,BAF84985,AAH22037,AAH37879,AAH50353,Q499Z3 Hs.194609 FLJ23878|MGC43873 protein-coding 733848 SLIT1 slit homolog 1 (Drosophila) 68762,634084,737816 9813312,10432110,17062560,16840550,16713569,16162649,12477932,12200164,12168954,12141424,12107412,10433822,10364234,9693030 68762,634084,737816 6585 NM_003061,AL442123,AL512424,CH471066,AB011537,AB017167,AY029183,BC028105,BC139909,BC146761,CD671648,CR617152 NP_003052,CAI14255,CAI14256,CAI14257,CAI14258,CAI14259,EAW49956,EAW49957,EAW49958,EAW49959,BAA32465,BAA35184,AAK31796,AAI39910,AAI46762,O75093,Q5T0V4,Q5VW17,Q5VW18 Hs.632082 GDB:9836963 MEGF4|MGC164811|SLIL1|SLIT3|Slit-1 protein-coding 733021 SLIT2 slit homolog 2 (Drosophila) 634084,1580863 10102268,10197527,9813312,10432110,10102269,15130495,17968499,17903301,17848514,17609981,17496152,17448996,17268810,16840550,16636676,16439689,16162649,15489334,14645233,12881718,12615722,12477932,12384551,12200164,12141424,11404413,11375980,11309622,11239147,11222645,10975526,10864954,10575218,10364234,10349621,10102266,12941633,14702039 634084 9353 NM_004787,AC021118,AC092577,AC096718,AC108011,CH471069,AB017168,AF055585,AF133270,AK027326,AK126459,BC117190 NP_004778,AAY41010,AAY41008,EAW92792,EAW92793,BAA35185,AAD04309,AAD25539,AAI17191,O94813,Q4W5K2,Q4W5N0 Hs.709761 GDB:9959053 FLJ14420|SLIL3|Slit-2 protein-coding 733245 SLIT3 slit homolog 3 (Drosophila) 68762,634084,1580863 9813312,10349621,16840550,16162649,15231749,14702039,12975309,12477932,12358155,12141424,11754167,11443047,9693030 68762,634084 6586 AC027311,AC094081,AC112165,CH471062,AB011538,AB017169,AF075240,AK001626,AL122074,AY358884,BC098388,BC142665,BC142717,BC146759,NM_003062,AC008409,AC008479,AC011365,AC011389 EAW61499,EAW61500,EAW61501,BAA32466,BAA35186,AAD19336,CAB59249,AAQ89243,AAI46760,O75094,NP_003053 Hs.604116 GDB:9836964 FLJ10764|MEGF5|SLIL2|SLIT1|Slit-3|slit2 protein-coding 1318872 SLITRK1 SLIT and NTRK-like family, member 1 Members of the SLITRK family, such as SLITRK1, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, but not SLITRK1, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 18413575,18021920,17712845,17671968,17083340,17035247,17003809,16936762,16323357,16224024,15489334,15057823,14557068,14550773,12975309,12477932,11572484 114798 NM_052910,AL355481,CH471093,AB067497,AY358289,BC051738 NP_443142,CAC37488,EAW80608,BAB67803,AAQ88656,AAH51738,Q96PX8 Hs.415478 KIAA0918|KIAA1910|LRRC12|RP11-395N17.1 protein-coding 1344547 SLITRK2 SLIT and NTRK-like family, member 2 Members of the SLITRK family, such as SLITRK2, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK2, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 15489334,14702039,14557068,12975309,12477932,11347906,8889548,15772651 84631 Y19205,AB058757,AJ278615,AK091015,AK096278,AK289732,AY358828,BC113011,BC113012,BM669862,CR627412,NM_032539,AL109653,CH471175 CAC80724,BAB47483,CAC42782,BAC03566,BAF82421,AAQ89187,AAI13012,AAI13013,CAH10501,Q6AI13,Q96KU0,Q9H156,NP_115928,CAC18888,CAI41645,EAW53953,EAW53954,EAW53955 Hs.320368 CXorf2|DKFZp451E1911|KIAA1854|MGC129912|MGC129913|SLITL1 protein-coding 1321448 SLITRK3 SLIT and NTRK-like family, member 3 Members of the SLITRK family, such as SLITRK3, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK3, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 14557068,14550773,12477932,10048485 22865 NM_014926,AC013458,CH471052,AB020655,AK290024,BC040491,BC114621 NP_055741,EAW78599,BAA74871,BAF82713,AAI14622,O94933,Q1RMY6 Hs.101745 KIAA0848|MGC138681 protein-coding 1348582 SLITRK4 SLIT and NTRK-like family, member 4 Members of the SLITRK family, such as SLITRK4, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK4, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 737633,1580863 15489334,14702039,14557068,12477932 737633 139065 NM_173078,AL080239,CH471170,AK057619,AK092016,AL713693,BC040986 NP_775101,CAI41650,EAW78020,BAB71535,CAD28493,AAH40986,Q5JXG3,Q8IW52 Hs.272284 DKFZp547M2010 protein-coding 1322151 SLITRK5 SLIT and NTRK-like family, member 5 Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 16212419,15489334,15057823,14702039,14557068,14550773,12477932,10048485 26050 NM_015567,AL603883,CH471085,AB020725,AK024251,AW449813,BC098106,BC098287,BC103497,BC103509 NP_056382,CAH73026,EAX08917,BAA74941,AAH98106,AAH98287,AAI03510,O94991,Q4QQH1 Hs.591208 KIAA0918|LRRC11|bA364G4.2 protein-coding 1315229 SLITRK6 SLIT and NTRK-like family, member 6 Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM] 1580863 14702039,14557068,12477932,11230166,11076863,16381901,15489336,15489334,15057823 84189 AL162373,NM_032229,CH471093,CQ860409,CQ860411,CQ860417,CQ861063,AK021931,AK026427,AK292793,AL137517,BC101070,BC101071,BC101072,BC101073,BQ772084,BX648640,CD687435 NP_115605,EAW80611,CAH68812,CAH68813,CAH68816,CAH25964,BAB13941,BAB15480,BAF85482,CAB70783,AAI01071,AAI01072,AAI01073,AAI01074,CAH10557,Q0JSR9,Q9H5Y7,CAL38445 Hs.525105 MGC119595|MGC119596|MGC119597 protein-coding 733761 SLK STE20-like kinase (yeast) 18287541,17321610,17081983,16837460,15489334,15164054,12477932,12421765,11316611,11149944,10699464,10611247,9039502,3526554,14531806 9748 NM_014720,AL138761,AL360170,CH471066,AB002804,AF273048,BC008697,BC036736,BC047762,BC047885,BC064804,BC111565,D86959,EF139853 NP_055535,CAI12395,CAI12396,CAH70403,CAH70404,EAW49615,EAW49616,EAW49617,EAW49618,BAA19655,AAG34908,AAH47762,AAH47885,AAH64804,AAI11566,BAA13195,Q9H2G2 Hs.591922 GDB:132238 KIAA0204|LOSK|MGC133067|STK2|bA16H23.1|se20-9 serine/threonine kinase 2 protein-coding 1317000 SLMAP sarcolemma associated protein 9405447,17081983,15489334,14702039,12975309,12477932,11042152,10997877,10986292,17353931 7871 NM_007159,AC099777,AC114480,CH471055,AB046821,AF100750,AF304450,BC115701,CR627321,AK022561,AK124200,AL834538,AY358410,BC114627 NP_009090,EAW65347,EAW65348,EAW65349,EAW65350,BAB13427,AAD43014,AAI14628,AAI15702,CAH10369,Q14BN4,AAG41949,BAC85803,CAD39194,AAQ88776 Hs.476432 GDB:9955779 FLJ42206|KIAA1601|MGC138760|MGC138761|SLAP protein-coding 1315398 SLMO1 slowmo homolog 1 (Drosophila) 737633 14702039,12477932 737633 10650 NM_006553,AP001029,CH471113,AF048849,AK056046,AL359942,BC007528,BC106750,BT007092,CR627465 NP_006544,EAX01547,EAX01548,EAX01549,EAX01550,AAC05143,BAB71083,CAB95773,AAH07528,AAI06751,AAP35755,CAH10669,Q96IH8,Q96N28,Q9NPW1 Hs.514718 C18orf43|DKFZp547K106|FLJ31484|HFL-EDDG1|MGC120170|PRELID3A chromosome 18 open reading frame 43 protein-coding 1345443 SLMO2 slowmo homolog 2 (Drosophila) 15489334,14702039,12477932,11780052,10810093 51012 NM_016045,AL109840,CH471077,AF151865,AK002157,BC010649,BC013969,CO248221 NP_057129,CAC09373,EAW75442,EAW75443,AAD34102,BAA92114,AAH10649,AAH13969,Q9Y3B1 Hs.656865 GDB:11504995 C20orf45|PRELID3B|dJ543J19.5 chromosome 20 open reading frame 45 protein-coding 1313124 SLN sarcolipin Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. 1580863 9367679,17515962,17010328,15342556,12692302,12645548,12477932,12032137,11781085,11772399,9575189,8681137,16189514 6588 NM_003063,AP002353,CH471065,U96093,BC005261,BC094685,BC104150,BC104185,BC113930,BC113987,BP233121,CR450290,F30315,U96094 NP_003054,EAW67094,AAB86980,AAH05261,AAH94685,AAI04151,AAI04186,AAI13931,AAI13988,CAG29286,AAB86981,O00631,Q6ICV3 Hs.334629 GDB:6380710 MGC12301|MGC125854|MGC125855 protein-coding 1350976 SLPI secretory leukocyte peptidase inhibitor This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes; the protein is also thought to have broad-spectrum anti-biotic activity. 1580863 3462719,3366116,3060147,2110563,2039600,1674946,1363870,16928883,15858026,18173453,18075823,17964057,17878156,17371258,16776851,16384861,16355004,16015083,15812165,15650263,15492784,15489334,15315966,15248236,15167969,15155685,15039364,15039315,15020232,15015603,12934194,12874244,12819058,12759437,12732717,12526812,12477932,12355371,12351521,12206714,12183536,12023969,12023766,11912282,11868825,11817677,11780052,11759111,11667971,11435427,10869562,10833481,10704052,10702419,10355635,9843921,8573092,7539415,7515550,3640338,3533531,3485543 6590 NM_003064,AL035660,CH471077,CS106326,M74444,X04502,AF114471,BC020708,X04470,X04503 NP_003055,CAB64235,EAW75869,CAJ01313,AAA60559,CAA28187,AAD19661,AAH20708,CAA28158,CAA28188,P03973,Q6LDI0,ABM82291,ABM85471 Hs.517070 GDB:9836429 ALK1|ALP|BLPI|HUSI|HUSI-I|MPI|WAP4|WFDC4 secretory leukocyte protease inhibitor (antileukoproteinase) protein-coding 1605637 SLTM SAFB-like, transcription modulator 14702039,12477932 79811 NM_024755,NM_001013843,AC025918,AC090515,CH471082,AI215187,AI745094,AK000867,AK023275,AK024710,AK055195,AK131242,AK291423,AL834297,AW205376,BC014944,BC040120,BC046119,BC108656,BC140851,CD688133,CR612238,CR613449 NP_079031,NP_001013865,EAW77550,EAW77551,EAW77552,EAW77553,BAA91401,BAB14502,BAB14971,BAD18423,BAF84112,CAH56362,AAH14944,AAH46119,AAI08657,AAI40852,Q9NWH9 Hs.512932 DKFZp762G052|FLJ10005|FLJ13213|Met protein-coding 1606825 SLU7 SLU7 splicing factor homolog (S. cerevisiae) Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. 15728250,10197984,15181151,17804646,16344560,16189514,12477932,11238888,10647016 10569 AC091842,CH471062,NM_006425,AF101074,AK000813,AK024875,AY486334,BC010634,BE221264,CA976106,CR615944,DA232975,DA409854,DQ174516,DQ174517 NP_006416,EAW61554,EAW61555,EAW61556,AAD13774,AAS59410,AAH10634,ABA08382,ABA08383,O95391,ABM81963,ABM85142 Hs.435342 9G8|MGC9280|hSlu7 protein-coding 1346067 SLURP1 secreted LY6/PLAUR domain containing 1 The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. 1599051,1580863 8742060,11285253,14506129,14721776,17643396,16354194,15909066,15489334,14756676,14674887,12787122,12603845,12483299,12477932,10211827,9887370 1599051 57152 NM_020427,AC083841,CH471162,X99977,AY579079,AY579080,BC069292,BC105133,BC105135 NP_065160,EAW82308,CAA68237,AAT01436,AAT01437,AAH69292,AAI05134,AAI05136,P55000 Hs.103505,Hs.676358 ANUP|ARS|ArsB|LY6LS|MDM protein-coding 1606824 SMA3 SMA3 7977382,14702039,12477932 10571 Q15486 NM_006780,AC108108,AC131392,AC138827,AC139277,AC140134,AL009030,AK094021,BC002622,BC050737,X83299 NP_006771,CAC69829,CAC69830,AAH50737,CAA58278,Q15486,ABM82829 Hs.654587 GDB:9957671 FLJ36702|b55C20.2 protein-coding 1605403 SMA4 glucuronidase, beta pseudogene 7977382,15489334,15372022,14702039,12477932 11039 NG_006084,AC108108,AC138827,AC138866,AL009030,AK094021,BC002622,BC050737,BC131740,BC141845,X83299,X83300 CAC69829,CAC69830,AAH50737,AAI31741,AAI41846,CAA58278,CAA58279,Q15486,Q15487,AAI40017,AAI40018,ABM82829,ABM84660,ABM86015 Hs.529793,Hs.654587,Hs.654588 GDB:9957671,GDB:9958766 FLJ36702|MGC22265|MGC60382|SMA3|b55C20.2 pseudo 1605402 SMA5 glucuronidase, beta pseudogene 8565635,7977382,7680524 11042 NG_005993,AC146944,BC070286,X83301 CAA58280,Q15488 Hs.529793,Hs.652536 GDB:9956274 pseudo 1345916 SMA@ spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease) 7813012 6592 GDB:120378 1353457 SMAD1 SMAD family member 1 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. 1580077,1580863,1643224,1643228,1643229,1643233,1643234,1643235,1643222,1643227 15781469,8653785,10708949,15621726,9759503,8663601,9436979,17356069,10647776,11121043,18310319,18184649,17963781,17948051,17847004,17496924,17455258,17452325,17392271,17359969,17043655,16990609,16931515,16621789,16436528,16412560,16326713,16247476,15911698,15877825,15761153,15708501,15613244,15542835,15516492,15489854,15489334,15246821,15231748,14732718,14702039,14701756,14633973,14630787,14500836,12874272,12821673,12650946,12649288,12519765,12477932,12426322,12370310,12354674,12167862,12097147,11811554,11779505,11700304,11483516,11451566,11438941,11387330,11239394,11163184,11158580,11139569,11118211,11016919,10890911,10887155,10708948,10673036,10660046,10652350,10583507,10400705,10400677,10224145,10205054,10085121,9843199,9748228,9393997,9335505,9335504,9136927,9006934,8893010,8774881,8673135,8637600,16189514,10199400,12743038,12714599,11279102,10497242,12944489 1580077,1643224,1643228,1643229,1643233,1643234,1643235,1643222,1643227 4086 NM_005900,NM_001003688,AC093796,AL117396,CH471056,AK096624,AK293055,BC001878,BE644607,BI772689,BI792941,BQ962660,BT007386,BU163870,CB956339,CR611301,U54826,U57456,U59423,U59912 NP_005891,NP_001003688,CAB55898,EAX05037,EAX05038,EAX05039,EAX05040,BAF85744,AAH01878,AAP36050,AAC50493,AAC50621,AAB06852,AAC50790,Q15797,Q9UFT8,ABM83436,ABM86650 Hs.656534 GDB:3763345 BSP1|JV4-1|JV41|MADH1|MADR1 smad, mothers against dpp homolog 1 (drosophila) protein-coding 1347299 SMAD2 SMAD family member 2 The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants encoding the same protein have been observed. 1599906,1599900,1580863,1559169 16556868,16478646,16437159,16403803,16260601,16253118,16146757,16055724,16007227,15811425,15799969,15761153,15750622,15735739,15665291,15613484,15599395,15520018,15496141,15494412,15489854,15489334,15356634,15326485,15308665,15280432,15241418,15231748,15218362,15166010,15144564,15084259,15066998,14728725,14727154,14702039,14691252,14612439,14531804,12894231,12874272,16645187,9702198,14555988,9311995,9865696,11100470,10549282,18263591,18223258,18166170,18082619,17875924,17729405,17601799,17591701,17427197,17365852,17295676,17292826,17217620,17142261,17081983,17053951,17035229,16924420,12743038,12732139,12650946,12618756,12615364,12531695,12477932,12393416,12370310,12354674,12202987,12193595,12191474,12191473,12170265,12167862,12150994,12105419,12097320,12034739,12034730,12023901,12000714,11879191,11804592,11779503,12760775,11691834,11555647,11438668,11387330,11387212,11371641,11359933,11278756,11278302,11274206,11264182,11229886,11163184,11160896,11118211,11114293,11094085,11058129,11043574,11042172,11027280,11016919,10890911,10887155,10863401,10825365,10823886,10819637,10757800,10708949,10708948,10678166,10647776,10615055,10531362,10531062,10505717,10485843,10420150,10400677,10220381,10199400,10197981,9892009,9873005,9843199,9820171,9759503,9702197,9679056,9525694,9503010,9389648,9346908,9288972,9214507,9136927,9092546,9006934,8980228,8893010,8889549,8861901,8774881,8752209,8673135,8617505,16179804,12794086,12815042,12714599,12165866,12426322,15761148,10575014,14612425,10497242 1599906,1599900,1559169 4087 NM_001003652,NM_005901,AC120349,CH471096,U78733,AA081871,AA418737,AF027964,AI087928,AI765747,AK126373,AY134745,BC014840,BC025699,BI258844,BQ018815,BQ900993,BT007422,BU167620,BU517178,BX491944,CR592338,CR595841,CR621595,DB462454,U59911,U65019,U68018 NP_001003652,NP_005892,EAW62914,EAW62915,EAW62916,EAW62917,AAC39657,AAC51918,AAN08619,AAH14840,AAH25699,AAP36090,AAC50789,AAB17054,AAB17087,Q15796,Q53XR6,Q7Z5E4,ABM82427,ABM84458,ABM84672,ABM85619 Hs.12253,Hs.705764 JV18|JV18-1|MADH2|MADR2|MGC22139|MGC34440|hMAD-2|hSMAD2 smad, mothers against dpp homolog 2 (drosophila) protein-coding 1343311 SMAD3 SMAD family member 3 1599906,1599900,1559169 16156666,16007227,15917296,15907489,15881652,15845540,15798217,15761153,15750622,15735739,15665291,15629128,15623506,15527767,15520018,15494412,15489334,15464984,15356634,15326485,15308665,15247277,15241418,15240101,15231748,15198928,17471513,17279001,17230494,17197157,17142261,17074765,17053951,17035229,16924420,16886151,16849317,16828225,16785237,16754688,16556868,16543220,16528675,16449645,16413503,16403803,16253118,16223572,16187293,15166010,15150273,15144564,15138260,15084259,15066998,15051726,15044214,15001984,14966294,14727154,14691252,14657019,14651998,14647420,14638857,14633126,14630914,14623893,14557482,14531804,14525983,14512875,12939660,12917425,12917407,12902338,12857746,12847691,12815042,12760775,12759229,12758167,12743038,12732139,12718878,12650946,12631740,12618756,12615364,8774881,10823886,15799969,15107418,14555988,15334054,12411310,9311995,9865696,11100470,14612439,10549282,18445023,18384750,18263591,18223258,18203713,18174246,18166170,18095154,18082619,18078810,18055455,17994767,17934056,17920062,17908958,17875924,17786540,17657819,17653079,17638910,17623674,17601799,17591701,17591695,17476473,12543979,12531695,12524424,12483531,12477932,12393612,12393416,12370310,12270924,12551947,12226080,12202987,12191474,12167862,12165866,12161532,12161428,12154125,12150994,12099698,12097320,12023901,12000714,11804592,11711431,11707452,11691834,11590145,11555647,11438668,11432852,11427533,11387330,11387212,11359933,11280774,11278756,11274402,11163184,11118211,11114293,11094085,11058129,11042152,11027280,11016919,10995777,10973944,10962029,10942775,10903323,10890911,10878024,10846168,10757800,10708949,10708948,10681527,10647776,10601313,10557285,10531062,10518526,10497242,10400677,10220381,10197981,10085140,10037600,9858566,9843199,9759503,9753318,9741623,9732876,9665135,9464505,9380693,8889548,8673135,7958925,7958924,16750572,12202226,16189514,12794086,12874272,14988407,12714599,15561701,12426322,15688032,10575014 1599906,1599900,1559169 4088 BC007496,BC050743,BE905995,BF058230,BG251847,BM551682,BM722372,BQ917888,BX506233,CR457386,CR749287,U68019,U76622,NM_005902,AB004930,AC012568,AC087482,AF025300,CH471082,AA493306,AB209616,AF151027,AI762628,AI991957,AK026690,AK290881,AL110265,BC000414 AAH07496,AAH50743,CAG33667,CAH18142,AAB80960,AAB18967,P84022,Q59F45,Q68DS8,Q7L4U6,Q9P0T0,ABZ92016,AAH00414,NP_005893,BAA22032,AAL68976,EAW77788,EAW77789,EAW77790,EAW77791,BAD92853,AAF36113,BAF83570 Hs.618504,Hs.702172 DKFZP586N0721|DKFZp686J10186|HSPC193|HsT17436|JV15-2|MADH3|MGC60396|Smad 3 smad, mothers against dpp homolog 3 (drosophila) protein-coding 1352527 SMAD4 SMAD family member 4 734492,1599906,1599898,1599899,1599900,1580863 12551947,12548549,12543979,12531695,15855639,15846069,15817471,15814640,15799969,15761153,15736060,15735739,15708501,15637079,15592526,15531914,15489334,15367885,15280432,15240101,15235019,15231748,15173084,15166010,15157044,15107966,15084259,15069531,15063137,15042598,15033661,15031030,15028714,15014009,14988407,14966294,14766211,14727154,14715079,14701756,14691252,14671321,14669329,14647445,14647410,14639103,14633973,14630914,14630787,14612439,14607700,14557482,14555988,14525983,14514699,12952364,12917407,12894231,12857746,12813045,12802277,12801888,12794086,12758167,12740389,12720172,12700666,12650946,12631740,12629129,12621041,12618756,12576474,12569386,15867212,12524424,12477932,12429655,12419246,12417513,12414627,12370310,12226080,12209716,12202987,12202226,12191474,12167862,12150994,12136244,12116240,12099698,12097320,12077092,12023040,12010891,12000714,11920286,11866987,11836524,11818334,11783110,11741830,11700304,11571638,11555647,11432852,11401430,11387330,11278302,11274206,11265759,11224571,11163184,11160896,11114293,11042172,8774881,10823886,15621726,12411310,9311995,10549282,11121043,12374795,18413775,18178612,17997817,17994767,17873119,17854080,17875924,17847004,17659731,17643425,17601799,17591695,17478078,17476473,17469085,17436386,17390050,17353364,17301079,17200344,17167985,17151782,17132729,17053951,17043799,17023741,17016646,16959612,16953227,16754688,16627986,16613914,16478646,16436638,16344560,16288847,16223572,16189514,16172383,16146757,16135802,16082587,16007227,15940269,15886208,15881652,11027280,10995777,10980615,10942775,10896788,10890911,10887155,10878024,10871368,10708949,10708948,10660046,10647776,10647180,10636916,10557285,10531062,10400705,10398437,10224145,10220381,10085140,9892009,9843571,9843199,9811934,9759503,9741623,9732876,9707553,9679056,9582123,9389648,9288972,9285560,9214508,9111321,9098646,8889548,8653691,8553070,7958925,7958924,11264182,10199400,12483531,12874272,12815042,15561701,10575014,15592428,15820681 734492,1599906,1599898,1599899,1599900 4089 NM_005359,AB043547,AC091551,AF045447,CH471096,AK290770,AU120224,BC002379,BM701399,BX647129,U44378 NP_005350,BAB40977,AAC03051,EAW62985,EAW62986,EAW62987,BAF83459,AAH02379,AAA91041,Q13485,Q9BYG6,ABM82766,ABM85954 Hs.75862 DPC4|JIP|MADH4 smad, mothers against dpp homolog 4 (drosophila) protein-coding 1349958 SMAD5 SMAD family member 5 1580755,1580077,1580863 8673135,10708949,15621726,9759503,10708948,9436979,17356069,11121043,18310319,18298822,17847004,17359969,17081983,16436528,16247476,16243555,15877825,15489334,15246821,15231748,15107829,14702039,14670176,12849988,12649288,12477932,12473652,12370310,12064918,12060751,11451570,11451566,11278410,11163184,10652350,10647776,10583507,10504300,10400677,10049768,9748228,9484787,9442019,9288787,9264367,16189514 1580755,1580077 4090 NM_005903,NM_001001419,NM_001001420,AC009014,AF009744,AF010607,CH471062,AF009678,AF009745,AF010601,AF071107,AF071108,AF071109,AF071110,AK001036,AK055211,BC009682,BK001394,BX510058,BX646699,BX648328,CR457424,CR749366,CR749473,U59913,U73825 NP_005894,NP_001001419,NP_001001420,AAB82655,AAB92396,EAW62194,EAW62195,EAW62196,AAB72180,AAB66353,AAD20800,AAD20801,AAD20802,AAD20803,AAH09682,CAG33705,CAH18219,CAH18303,AAC50791,AAB95090,Q68DB7,Q6I9T1,Q99717 Hs.167700 DKFZp781C1895|DKFZp781O1323|Dwfc|JV5-1|MADH5 smad, mothers against dpp homolog 5 (drosophila) protein-coding 1312880 SMAD6 SMAD family member 6 1580863 16299379,9436979,15621726,18445023,17934461,17931948,17359969,16951688,16886151,16687405,16601693,16373339,16249187,15736400,15716278,15665522,15529348,15489334,15033458,14657019,14645520,12477932,12407115,12397035,11737269,11483516,11278251,10757800,10748100,10722652,10708949,10708948,10655064,10647776,9759503,9712726,9256479,8673135,16282533,12815042 4091 BU154759,CB055216,U59914,NM_005585,AC013564,AC110048,AF041065,AF101474,CH471082,AF035528,AF037469,AF043640,BC012986,BC029288,BC052569 AAH52569,AAC50792,O43541,Q7Z7L4,NP_005576,AAF14343,AAF06841,EAW77784,EAW77785,EAW77786,AAB94137,AAC82331,AAC00497,AAH12986 Hs.153863 HsT17432|MADH6|MADH7 smad, mothers against dpp homolog 6 (drosophila) protein-coding 1344957 SMAD7 SMAD family member 7 1579878,1580863 9256479,9215638,15621726,10823886,9436979,18445023,18231913,18163503,18041647,17934461,17931948,17928287,17704440,17657819,17510063,17438144,17377371,17332363,17230494,17172861,17009056,16720724,16718778,16714330,16641086,16601693,16442497,16288847,16285943,16260615,16187293,16007121,15922743,15877825,15831498,15811853,15811425,15788410,15761153,15736400,15708859,15684397,15661223,15632190,15579469,15529348,15498852,15489334,15231748,15221015,15132952,15128733,15075243,15033661,15033458,15023526,14993265,14988821,14728725,14722617,14718519,14657019,14557482,12952364,12947087,12815042,12650946,12589052,12519765,12477932,12408818,12407115,12397035,12202987,12151385,12118366,12023024,11904440,11737269,11483516,11278251,11163210,10887185,10757800,10708949,10708948,10647776,9786930,9759503,9730599,9335507,16179804,15148321,15820682 1579878 4092 NM_005904,AC114684,AF026559,AF156731,CH471096,AF010193,AF015261,AK131394,BC074818,BC074819 NP_005895,AAL68977,EAW62931,AAB81246,AAB81354,AAH74818,AAH74819,O15105 Hs.465087 FLJ16482|MADH7|MADH8 smad, mothers against dpp homolog 7 (drosophila) protein-coding 1350114 SMAD9 SMAD family member 9 1580077,1580863 15621726,9436979,17356069,9256479,11121043,17081983,15489334,12477932,10708949,10708948,10647776,9759503,9205116,16189514,10583507 1580077 4093 NM_001127217,AL138706,CH471075,AW191604,BC011559,BC067766,BC104760,BC104762,D83760,D83761,DB501041,NM_005905 NP_005896,NP_001120689,CAI14007,EAX08570,EAX08571,EAX08572,EAX08573,AAH11559,AAI04761,AAI04763,BAA21128,BAA21129,O15198,Q5TBA1,Q6NW20,ABZ92389 Hs.123119 MADH6|MADH9|SMAD8A|SMAD8B smad, mothers against dpp homolog 9 (drosophila) protein-coding 1347252 SMAP1 stromal membrane-associated GTPase-activating protein 1 The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. 16273301,15761153,15659652,15489334,14702039,14574404,12477932,12119110,9644265,9373149,8125298,17353931 60682 NM_001044305,NM_021940,AL121961,AL354943,AL591049,AY055015,CH471051,AF442495,AK023221,AK074340,AK124239,AK222711,AK290448,AL833906,AY055003,AY055004,BC008672,BC028074,BC036123,CR624449 NP_001037770,NP_068759,CAI42146,CAI42147,CAI42148,CAI12308,CAI12310,CAI12311,CAI12312,CAI14240,CAI14241,CAI14242,AAL14716,AAL14717,EAW48805,EAW48806,EAW48807,EAW48808,EAW48809,AAP97320,BAB14473,BAD96431,BAF83137,CAD38762,AAL14714,AAL14715,AAH08672,AAH28074,AAH36123,Q8IYB5 Hs.485717 FLJ13159|FLJ42245|SMAP-1 protein-coding 1601981 SMAP2 stromal membrane-associated GTPase-activating protein 2 16710414,16571680,15489334,12477932 64744 NM_022733,AL031985,CH471059,AL133206,AL137764,BC014512,BC021133 NP_073570,CAI19853,CAI19854,CAI19855,EAX07220,EAX07221,EAX07222,CAB61580,CAB70912,AAH14512,AAH21133,Q8WU79 Hs.15200 RP1-228H13.3|SMAP1L protein-coding 1350342 SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 This gene encodes a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 14609955,1408766,18302774,18243132,16740656,15772651,15640247,15489334,15347669,15310751,14702039,12477932,12112843,11980720 6594 NM_003069,NM_139035,AL022577,AL138745,CH471107,AK026426,AK123541,AW614102,BC051825,BC117447,BQ006393,BX647934,M89907 NP_003060,NP_620604,EAX11833,EAX11834,EAX11835,EAX11836,AAH51825,AAI17448,AAA80560,P28370,Q5JV40,Q5JZ57,Q86UA8 Hs.152292 GDB:135506 DKFZp686D1623|FLJ41547|ISWI|NURF140|SNF2L|SNF2L1|SNF2LB|SWI|SWI2 protein-coding 1348339 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. 1580863 8223438,8895581,12200431,12437990,14701856,15696166,16341228,8670841,18082132,18006815,17938176,17546055,17081983,17075831,16916647,16749937,16097034,15302935,15240517,15075294,14718574,14702039,14657023,14603256,12837248,12757710,12620226,12566296,12493776,12477932,12065415,12044884,11850427,11734557,11719516,11262242,11175787,11134956,11078522,10938115,10910076,10078207,10072425,9710619,9099865,8804307,8208605,8012116,7565614,16601680,15034933 6595 NM_003070,NM_139045,AL138755,AL359076,CH471071,U92832,AK094076,AL558829,AY293824,BC040029,BC068252,BM921013,CR591550,CR595322,X72889 NP_003061,NP_620614,EAW58811,EAW58812,EAW58813,EAW58814,EAW58815,AAB68685,BAC04280,AAH40029,CAA51407,P51531,Q56A76,Q5T4D9,Q5T4E0,Q5T4E1,Q5T4E2,Q5T4E3,Q5TB70,Q5TB71,Q5TB72,Q5TB73,Q5TB74,Q5TB75,Q5TB76,Q6LC24,Q6NYH2,Q8N9Q1,AAI56186 Hs.298990 GDB:371614 BAF190|BRM|FLJ36757|MGC74511|SNF2|SNF2L2|SNF2LA|SWI2|Sth1p|hBRM|hSNF2a protein-coding 1348890 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Alternatively spliced transcripts have been found for this gene, but their full-length natures have not been determined. 1580863 18042045,18003620,17938176,17726060,17723105,17672918,17599918,17582821,17468105,17393431,17317669,17274598,17182572,17081983,17081121,17075831,17043312,17023429,16923960,16824695,16800816,16730941,16537901,16513088,16195385,16051670,15999204,15985610,15887247,15781111,15731117,15635413,15616580,15347669,15317818,15302935,15287030,15286705,15240517,15231747,15207703,15141164,15075294,15057824,14990991,14743216,14702039,14701856,14676191,14603256,14555651,14530259,12889071,12837248,12684665,12637547,12620226,12612078,12566296,12493776,12477932,12411497,12368262,12244326,12200431,12192000,12154023,12077331,12065415,12044884,11988099,11953317,11950834,8208605,12917342,8232556,18239461,18086889,11937040,11839798,11805098,11779498,11734557,11726552,11719516,11532957,11486022,11445556,11414763,11108719,11085541,11078522,11003650,10944117,10943845,10619021,10204490,10078207,9891079,9845365,9590696,9443979,9222609,9099865,8895581,8856972,8670841,7923370,7739891,16687403,11238380,11018012,11013263,17353931,10688647,14499622,15034933,14966121,14530271,15035981,15780937 6597 EU430756,EU430757,EU430758,EU430759,U29175,AC006127,AC011442,AC011485,AF254822,CH471106,AB209313,AK026573,AK055168,AK097105,AK290033,BC007302,BC035916,BC139917,BC139924,BC150298,BG396607,BQ009907,CR597216,CR612486,D26156,NM_003072 ACA09750,ACA09751,ACA09752,ACA09753,AAB40977,P51532,Q59FZ6,Q9HBD4,AAI51850,NP_003063,AAC97986,AAC97987,AAG24789,AAG24790,EAW84162,EAW84163,EAW84164,EAW84165,EAW84166,EAW84167,BAD92550,BAF82722,AAI39918,AAI39925,AAI50299,BAA05143 Hs.327527 GDB:454064 BAF190|BRG1|FLJ39786|SNF2|SNF2-BETA|SNF2L4|SNF2LB|SWI2|hSNF2b protein-coding 1318831 SMARCA5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. 1580863 12972596,9730600,9836642,17081983,16964243,16877760,16603771,16565220,16344560,15775975,15635413,15489334,15616580,15543136,15302935,15284901,15120635,15009096,14729942,12477932,12434153,12374985,12198550,12167701,11980720,11532953,11435432,10914549,10880450,10655480,16189514,15148359,15780937 8467 NM_003601,AC099396,AC104685,AC139713,CH471056,AB010882,AF086544,AU132439,BC023144,CR596745 NP_003592,AAY40920,AAY40965,EAX05071,BAA25173,AAH23144,O60264,Q4W5G3,Q4W5H1 Hs.589489 GDB:9955212 ISWI|SNF2H|WCRF135|hISWI|hSNF2H protein-coding 1320088 SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 1580756,1580863 11031099,17081983,15489334,15302935,14702039,12477932,10574461,1489724 1580756 56916 NM_020159,AC096746,CH471057,AB032948,AK023990,AK025302,AK027490,AL359929,AL512768,AY008271,BC017953,BC041800,BC045534 NP_064544,EAX06049,EAX06050,EAX06051,BAA86436,BAB14759,BAB55150,CAB95769,CAC21685,AAG16639,AAH17953,AAH45534,Q05D56,Q9H4L7,ABZ92355 Hs.410406 DKFZp762K2015|ETL1|KIAA1122 protein-coding 1314575 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. 1599053 10713074,10857751,17089404,16840568,16344560,16237566,15489334,14702039,12477932,12471207,11799392 1599053 50485 AK023780,AL122076,BC016482,BC029994,BC043341,BX104166,CR599402,CR622730,DA856812,DB099423,NM_001127207,AC098820,AF210833,AF210834,AF210835,AF210836,AF210837,AF210838,AF210839,AF210840,AF210841,AF210842,CH471063,AF082179,AF432223,AI701066,AK000117,NM_014140 BAA90955,CAB59251,AAH16482,AAH43341,Q9NZC9,ABM82663,ABM85839,NP_001120679,AAX93097,AAF70454,EAW70567,AAF24984,AAL73034,NP_054859 Hs.516674 GDB:10796078 HARP|HHARP protein-coding 1318721 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. 1580863,1599055 15985610,7801128,14963118,8895581,11430827,18262058,18087273,18072270,17922027,17717433,17699849,17669367,17616514,17486366,17376508,17357086,16912184,16889668,16772295,16568092,16528370,16344560,16314535,16288006,16267391,16219292,16154112,15993274,15981100,15899790,15796965,15769941,15761491,15642401,15589835,15489652,15461802,15175083,15150092,15101046,14990991,14743216,14702039,14604992,14526201,12892231,12837248,12665591,12637547,12620397,12548550,12477932,12226744,12213194,12200431,12145209,12138206,12112529,12082626,12016208,11950834,11921280,11880634,11782423,11782395,11756182,11734557,11479624,11259590,11085541,11078522,10773452,10739763,10688647,10619021,10521299,10490642,10365963,10319872,10208879,10078207,9892189,9710619,9671307,9448295,8709224,7739891,7627549,16403635,16945155,16075307,15875659,16687403,11238380,11018012,11013263,9845365,10943845,11726552,11486022,9891079 1599055 6598 AAB34227 NM_003073,NM_001007468,AP000349,AP000350,CH471095,DQ230988,CR621083,CR621090,CR621760,CR624865,CR625181,CR625707,CR626732,R37717,Y17118,AB017523,AJ011737,AJ011738,AK021419,AK024025,AL389878,AL389881,AU143041,BC117114,BG705851,CR456581,CR590397,CR590517,CR594771,CR595672,CR599485,CR600743,CR600940,CR601509,CR617530,CR619336,CR619411,CR620956 NP_003064,NP_001007469,EAW59605,EAW59606,EAW59607,EAW59608,AAB34227,Q12824,Q17S11,Q9H836,CAK54611,CAK54910,CAA76639,BAC77068,CAA09758,CAA09759,BAB14784,AAI17115,CAG30467,ABB02184 Hs.534350 GDB:593871 BAF47|INI1|RDT|SNF5|SNF5L1|Sfh1p|Snr1|hSNFS protein-coding 1312524 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. 1580863 12917342,8804307,10078207,11018012,17513758,17081983,16568092,16199878,16083285,15489334,15302935,15144186,14743216,12837248,12665591,12477932,11734557,11726552,11238380,11078522,10619021,9891079,9744861,9710619,9693044,9590696,8895581,8889548,11013263,11950834,12244326,9845365,10943845,14966121,14530271 6599 NM_003074,AC026318,AC112512,AC130472,CH471055,BC012101,BC021862,BC032564,BC039843,BC040242,BC050564,BC065253,BC113465,BC117213,BG474088,BM971095,CR590211,U66615 NP_003065,EAW64831,EAW64832,AAH21862,AAH32564,AAH39843,AAH50564,AAH65253,AAI13466,AAI17214,AAC50693,Q05BW5,Q05CR1,Q17RS0,Q58EY4,Q92922 Hs.476179 GDB:9837470 BAF155|CRACC1|Rsc8|SRG3|SWI3 protein-coding 1315563 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16199878,16169070,15489334,15345747,15302935,14743216,12837248,12665591,12477932,12368262,11734557,11238380,11078522,9710619,9693044,9435219,8895581,10943845,15035981,12917342,8804307,10078207,11018012,12192000,17081983,16713569 6601 NM_003075,NM_139067,AC073896,CH471054,AB209006,AB209293,AK025128,BC009067,BC013045,BC026222,BC040645,BT009924,U66616 NP_003066,NP_620706,EAW96906,EAW96907,EAW96908,BAD92243,BAD92530,AAH09067,AAH13045,AAH26222,AAP88926,AAC50694,Q59G16,Q59GV3,Q8TAQ2,ABW03707 Hs.236030 GDB:9837472 BAF170|CRACC2|Rsc8 protein-coding 1313419 SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12917342,8804307,16484223,16344560,16189514,15489334,15146197,12837248,12753905,12665591,12477932,11734557,11078522,11053448,10078207,9892636,9710619,9693044,8895581,8889549,11018012 6602 NM_003076,NM_139071,AC025154,CH471111,AA610093,AF109733,AK130517,AK292700,BC000063,BC009368,BE905082,CN272379,CR622081,DA825057,DB010252,N75126,U66617 NP_003067,NP_620710,EAW58120,EAW58121,EAW58122,EAW58123,EAW58124,EAW58125,EAW58126,EAW58127,AAD23390,BAF85389,AAH09368,AAC50695,Q96GM5,ABZ92538 Hs.79335 GDB:9837474 BAF60A|CRACD1|Rsc6p protein-coding 734113 SMARCD2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 15231747,8804307,17081983,16964243,15489334,12665591,12477932,10382302,9693044,8895581,10943845 6603 NM_001098426,NM_003077,AC015651,AF068245,CH471109,AF113019,AK025917,BC018953,BC142963,BM463728,CR593297,CR612124,U66618 NP_001091896,NP_003068,EAW94266,EAW94267,EAW94268,AAF20280,AAH18953,AAI42964,AAC50696,Q92925 Hs.250581 GDB:9837476 BAF60B|CRACD2|PRO2451|Rsc6p protein-coding 1323550 SMARCD3 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. 14701856,8804307,17081983,16687403,15489334,14697242,12853948,12690205,12477932,11726552,9891079,9693044,8895581,11532957 6604 NM_003078,NM_001003802,NM_001003801,AACC02000108,AC005486,AC021097,CH471173,AK127595,AY450430,AY450431,BC002628,BC110350,BI598614,BX648385,CR602391,CR607969,CR610746,CR620870,U66619 NP_003069,NP_001003802,NP_001003801,EAL24510,AAS02031,AAS00380,EAW54005,EAW54006,EAW54007,EAW54008,EAW54009,AAR88510,AAR88511,AAH02628,AAI10351,AAC50697,Q2YD86,Q6STE5 Hs.647067 GDB:9837479 BAF60C|CRACD3|MGC111010|Rsc6p protein-coding 1313743 SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. 12192000,9435219,12917342,17669635,16769725,16199878,16135788,16051670,15489334,15231748,14743216,14702039,12837248,12672490,12637547,12477932,12145209,12110891,11734557,11256614,11147808,11078522,10078207,8895581,9710619,14530271,14623284 6605 AF035262,CH471152,AK001532,AK095047,BC007082,BC011017,BC047731,BC063700,BC069196,BQ707908,BT007176,CR595985,CR597488,CR598259,CR600221,CR600545,CR625220,CR626250,NM_003079,AC004585,AC073508 AAC04509,EAW60670,EAW60671,AAH07082,AAH11017,AAH63700,AAP35840,Q969G3,ABM81638,ABM84407,ABM84820,ABM87381,NP_003070 Hs.696086 GDB:9837481 BAF57 protein-coding 737070 SMC1A structural maintenance of chromosomes 1A Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. 1580863 11076961,12199140,11877377,16438930,11590136,12226669,7757074,18299561,17544403,17273969,17106445,17102637,16623664,16604071,16242161,16043481,15837422,15772651,12930902,17353931,15640246,15635413,15546961,15489334,15302935,14702039,14657349,12607005,12477932,12168954,11790298,11564881,10931856,10409732,9789013,9295362,8724849,8076819,7757075,12198550,12759374,11877376 8243 NM_006306,NG_006988,AL161779,CH471154,Z97054,AF176781,AK055575,AK056308,AK091458,AK291921,BC064368,BC080185,BC112127,BQ232418,BX640922,CR624301,D80000,S78271 NP_006297,EAW93149,EAW93150,EAW93151,CAI42645,CAI42646,AAQ13659,BAF84610,AAH64368,AAH80185,AAI12128,CAE45960,BAA11495,AAB34405,Q14683,Q68EN4,Q6MZR8,Q6P2R1,Q7Z4C6 Hs.211602 GDB:9785049 CDLS2|DKFZp686L19178|DXS423E|KIAA0178|MGC138332|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB smc-like 1 (yeast) protein-coding 1318766 SMC1B structural maintenance of chromosomes 1B SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM] 1580863 14660695,11564881,11329013,10591208,15125634,12759374 27127 NM_148674,AL008718,AL021391,CH471138,AJ504806,AK125736,AL704843,BC126208,BG194018 NP_683515,EAW73381,EAW73382,EAW73383,CAD43404,BAC86266,AAI26209,A0AV46,Q6ZUF9,Q8NDV3 Hs.334176 GDB:10795942 FLJ43748|SMC1BETA|SMC1L2|bK268H5|bK268H5.5 protein-coding 1313128 SMC2 structural maintenance of chromosomes 2 1580863 12589063,9789013,11136719,10958694,17488335,15635413,14702039,12477932,15148359,17353931 10592 NM_001042551,NM_006444,BC017845,BC032705,BC055081,BC061906,BC071750,BC107891,BC130385,BF969462,NM_001042550,AL161791,AL354938,CH471105,AF092563,AF113673,AJ420415,AJ420453,AK000955,AK001485,AK124957,AK292599,AL833191,AY739716,BC003396,BN000163,CR607728,U46075 NP_001036016,AAH03396,AAH17845,AAH32705,AAH55081,AAH61906,AAH71750,AAI07892,AAI30386,NP_001036015,CAI16866,CAI16867,EAW58973,EAW58974,EAW58975,EAW58976,EAW58977,AAC72360,AAF29579,BAF85288,CAI46187,AAW65985,NP_006435,CAD89875,AAA86843,O95347,Q05BV1,Q05D74,Q13497,Q2KQ72,Q32Q15,Q5T6J0,Q5T821,Q6IEE0,Q6IPS5,Q6P712,Q7Z2X1 Hs.119023 GDB:9957696 CAP-E|CAPE|FLJ10093|SMC2L1|hCAP-E smc2 structural maintenance of chromosomes 2-like 1 (yeast) protein-coding 1354451 SMC3 structural maintenance of chromosomes 3 This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. 1580863 11590136,10801778,12498344,9506951,12651860,9015313,17273969,17081288,16156898,16043481,15837422,15656913,15635413,15164054,15125634,12759374,12477932,11564881,11076961,11042152,9789013,9528857,11877376,17353931 9126 NM_005445,AL359260,CH471066,AF020043,AF067163,AJ005015,AK289771,AK315845,BC047324,CA439554,CR603306 NP_005436,CAI16576,EAW49557,EAW49558,AAC14893,AAD32447,CAA06289,BAF82460,BAF98736,AAH47324,Q86VX4,Q9UQE7 Hs.24485 GDB:9958904 BAM|BMH|CDLS3|CSPG6|HCAP|SMC3L1 chondroitin sulfate proteoglycan 6 (bamacan) protein-coding 1315434 SMC4 structural maintenance of chromosomes 4 1580863 8125298,11136719,9789013,11850403,17488335,16565220,14702039,12477932,11321372,11230166,10958694,10319587,9373149 10051 NM_001002799,NM_001002800,NM_005496,AC024221,CH471052,AB019987,AF092564,AK002200,AK026361,AK122939,AK128143,AK225437,AL136877,AL833949,BC001557,BC065259,BC070161,BC106033,BI090399,CR600091,CR609546 Q58F29,Q6NSG3,Q6P169,Q9NTJ3,AAI46371,AAI48797,NP_001002799,NP_001002800,NP_005487,EAW78639,EAW78640,EAW78641,EAW78642,BAA73535,AAC72361,CAB66811,CAD38803,AAH01557,AAH65259,AAH70161,AAI06034 Hs.58992 GDB:9954934 CAPC|SMC4L1|hCAP-C|smc4l1 smc4 structural maintenance of chromosomes 4-like 1 (yeast) protein-coding 1316718 SMC5 structural maintenance of chromosomes 5 18086888,17589526,16810316,16344560,16055714,15489334,15164053,14702039,12477932,12168954,11408570,9628581 23137 NM_015110,AL162390,CH471089,AA709087,AB011166,AJ310550,AK055825,BC017666,BC020393,BC034441,BC038225,DB220819,DB318469 NP_055925,EAW62501,EAW62502,BAA25520,CAC39247,AAH17666,AAH38225,Q8IY18,ABM84290,ABM87767 Hs.534189,Hs.601181 KIAA0594|SMC5L1 smc5 structural maintenance of chromosomes 5-like 1 (yeast) protein-coding 1322555 SMC6 structural maintenance of chromosomes 6 1580863 11256614,18086888,17589526,16810316,16381901,16055714,15815621,15489336,15489334,14702039,12477932,11408570,11230166,11076863 79677 NM_024624,AC097377,CH471053,AJ310551,AK025769,AK092853,AK098325,AK124545,AK292421,AL136544,AL832979,BC011389,BC022998,BC032675,BC039828,CR618309 NP_078900,AAX88851,EAX00866,EAX00867,EAX00868,EAX00869,CAC39248,BAB15236,BAF85110,CAB66479,CAH56327,AAH32675,AAH39828,Q96SB8,CAL37412 Hs.526728 FLJ22116|FLJ35534|SMC6L1 smc6 structural maintenance of chromosomes 6-like 1 (yeast) protein-coding 1601772 SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 17567985,16461635,16344560,12477932,10737800,9734811 23347 NM_015295,AP001011,AP005061,AB014550,AI904018,AK025646,AK126324,AL080138,BC006008,BC035774,BP872870,BU153211,BU509173,CR627458,DA283721,DA675822,DB071574,DN913642,AW503637 NP_056110,BAA31625,BAB15202,BAC86525,CAB45732,AAH35774,CAH10538,A6NHR9 Hs.8118 DKFZp686O0631|KIAA0650 protein-coding 737432 SMCP sperm mitochondria-associated cysteine-rich protein Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperm's mitochondrial sheath. 1580863 17047026,16325371,16189514,15489334,12477932,11940662,11375445,10411523,8916043,8833144,2715306,1418626 4184 NM_030663,AL162596,CH471121,X89961,BC014593,BC016744,X89960 NP_109588,CAI19552,EAW53361,CAD56487,AAH14593,AAH16744,CAA62000,P49901,Q5T7P5,ABM81714,ABM84870 Hs.111850 GDB:686321 HSMCSGEN1|MCS|MCSP|MGC26305|MGC26519 mitochondrial capsule selenoprotein protein-coding 1346026 SMCR Smith-Magenis syndrome chromosome region 6600 GDB:120379 1345469 SMCR2 Smith-Magenis syndrome chromosome region, candidate 2 11997338 140768 AI821758 Hs.369680 GDB:11507883 protein-coding 1343673 SMCR3 Smith-Magenis syndrome chromosome region, candidate 3 11997338 140769 AA609047 GDB:11507885 protein-coding 1352395 SMCR4 Smith-Magenis syndrome chromosome region, candidate 4 11997338,10737800 140770 BG992883 GDB:11507887 protein-coding 1352378 SMCR5 Smith-Magenis syndrome chromosome region, candidate 5 11997338 140771 XM_001722800,XM_001725572,XM_001719311,AC122129,CH471196,AF467442 XP_001722852,XP_001725624,XP_001719363,EAW55697,AAL78339,Q8TEV8 Hs.352643 GDB:11507889 protein-coding 1350603 SMCR6 Smith-Magenis syndrome chromosome region, candidate 6 11997338 140772 AJ230805,BF511382,W94594 Hs.660306 GDB:11507891 protein-coding 1347197 SMCR7 Smith-Magenis syndrome chromosome region, candidate 7 This gene encodes a protein of unknown function. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in two transcript variants encoding the same protein. 16713569,16189514,15517828,14702039,12477932,11997338 125170 Q6ZRD4,Q96C03,Q96N07 NM_139162,NM_148886,AC127537,CH471196,AF467443,AK056165,AK128310,BC014973,BC035292,CR611025 NP_631901,NP_683684,EAW55651,EAW55652,AAL78340,BAB71108,BAC87377,AAH14973,Q6ZRD4,Q96C03,Q96N07 Hs.655555 GDB:11507893 MGC23130 protein-coding 1604008 SMCR7L Smith-Magenis syndrome chromosome region, candidate 7-like 11256614,16381901,15489336,15324660,12477932,11230166,11076863,10591208,9110174,8619474,16189514 54471 NM_019008,AL022312,CH471095,AF086364,AK000239,AK026539,AK290954,AL136768,AL365515,AL834205,BC002587,BC002861,BC008327,BC009958,BC032530,BC047292,BC054037,BG419918,CR601387,CR615640 NP_061881,CAI19178,EAW60335,EAW60336,EAW60337,EAW60338,EAW60339,BAA91027,BAF83643,CAB66702,CAB97211,CAD38892,AAH02587,AAH08327,Q0JSG5,Q7L890,Q99765,Q9H0J7,Q9NQG6,Q9NXI3,CAL38265,CAL38549,CAL38622 Hs.702137 FLJ20232|HSU79252|dJ1104E15.3 protein-coding 1345463 SMCR8 Smith-Magenis syndrome chromosome region, candidate 8 15342556,14702039,12477932,11997338 140775 AC127537,CH471196,AF467440,AK092035,BC001018,BC005067,BC014179,BC040699,BC101115,NM_144775,BC101116,BC101117,BC142680,BP280386,CK724925 NP_658988,EAW55644,EAW55645,AAL78337,AAH01018,AAH14179,AAI01117,AAI01118,AAI42681,Q8TEV9 Hs.592944,Hs.707728 GDB:11507895 FLJ34716 protein-coding 1344602 SMCR9 Smith-Magenis syndrome chromosome region, candidate 9 140776 GDB:11507897 1319189 SMEK1 SMEK homolog 1, suppressor of mek1 (Dictyostelium) 17353931,16107728,16085932,15489334,15302935,14702039,12477932 55671 NM_032560,AL133153,CH471061,AB095930,AF113213,AK000714,AK001885,AK024297,AL832921,BC018617,BC022778,BC028088,BC038932,BC072409,BM147425,BX248247,CR605708 NP_115949,EAW81452,EAW81453,EAW81454,EAW81455,EAW81456,EAW81457,BAC23106,AAG39284,BAA91338,BAA91960,BAB14877,CAH10634,AAH28088,AAH38932,AAH72409,CAD62575,Q6IN85,Q8N6W1 Hs.533887 FLFL1|KIAA2010|MSTP033|PP4R3A|smk-1|smk1 protein-coding 1603387 SMEK2 SMEK homolog 2, suppressor of mek1 (Dictyostelium) 17353931,16964243,16344560,16107728,16085932,15815621,15616564,15489334,14702039,12477932,11230166,10718198 57223 NM_020463,NM_001122964,AC015982,CH471053,AB037808,AK023148,AK026437,AK056036,AK056503,AL122106,AL136556,AY825268,AY825269,BC006215,BC032531,BC045714,BC060855,CR600305,DA392286 NP_065196,NP_001116436,AAY24270,EAX00090,EAX00091,EAX00092,EAX00093,EAX00094,EAX00095,EAX00096,BAA92625,BAB14430,CAB66491,AAV97750,AAV97751,AAH06215,AAH45714,AAH60855,Q5MIZ7 Hs.516182 FLFL2|FLJ31474|KIAA1387|PP4R3B|PSY2|smk1 protein-coding 1602982 SMEK3P SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene 14702039 139420 NR_002784,AC006210,AK057429,AK131475 BAB71482,BAD18620 Hs.350673 FLFL3P|FLJ32867|smk1 pseudo 1602127 SMG1 PI-3-kinase-related kinase SMG-1 This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternative spliced transcript variants have been described, but their full-length natures have not been determined. 11331269,11544179,15175154,16488880,14636577,17229728,16452507,15279777,14702039,12554878,12477932,12168954,11948212,10737800,10493829,10428027,9566925,9455477,8524286 23049 NM_015092,AC026472,AC092287,AC138811,CH471186,AB007881,AB061371,AF186377,AF395444,AK025794,AK057563,AK074359,AK123332,AL833298,AW503964,AY014957,BC037335,BC047629,BF333707,BU633006,CA868047,U32581 NP_055907,EAW50262,BAA24851,BAB70696,AAK58892,AAM73708,AAK00511,AAA86535,Q96Q15 Hs.460179 GDB:9785244 61E3.4|ATX|KIAA0421|LIP protein-coding 1603683 SMG5 Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM] 12699629,14636577,16488880,17053788,16809764,16710414,15546618,15489334,14702039,12676087,12477932,12168954,10470851,15721257 23381 AK027486,AK092183,AL137738,AY168922,NM_015327,AL135927,AL589685,CH471121,AB029012,AB085691,AK025988,BC007292,BC007453,BC038296,CR592010,CT000143,AY336728 BAB55147,CAH56374,AAO17582,NP_056142,CAI15525,CAI15546,CAI14160,EAW52973,EAW52974,BAA83041,BAC53623,AAH07453,AAH38296,Q5TCL0,Q96SX4,Q9UPR3,AAQ84301 Hs.516837 EST1B|FLJ34864|KIAA1089|LPTS-RP1|LPTSRP1|RP11-54H19.7|SMG-5 protein-coding 1320039 SMG6 Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) SMG6 is involved in nonsense-mediated mRNA decay (Fukuhara et al., 2005 [PubMed 15721257]).[supplied by OMIM] 12699629,16488880,15721257,14636577,17940095,17557331,17053788,16820686,15489334,14702039,12676087,12554878,12477932,12168954,11087658,9872452 23293 NM_017575,AC090617,AL450226,CQ834790,AB018275,AK024131,AK074270,AL080204,AL133597,AY145883,AY168921,BC064916,CR602852 NP_060045,CAH05610,BAA34452,BAB14835,CAB63733,AAN46114,AAO17581,AAH64916,Q86US8,Q9H7Y8,AAI48374 Hs.448342 GDB:9955468 C17orf31|EST1A|KIAA0732|SMG-6 protein-coding 1321852 SMG7 Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) SMG7 is involved in nonsense-mediated mRNA decay (Fukuhara et al., 2005 [PubMed 15721257]).[supplied by OMIM] 15489334,14636577,16488880,15721257,17081983,16710414,15546618,14702039,12699629,12676087,12477932,12168954,11318611,9039502 9887 NM_201568,NM_173156,NM_201569,NG_007267,AL137800,AL355387,AL359876,AL449223,CH471067,AB085674,AK056035,AK074297,AK091477,AL833675,AY386363,BC009281,BC015788,BC036381,BC052565,BM152501,CR596132,CR602776,D87437 NP_963862,NP_775179,NP_963863,EAW91154,EAW91155,EAW91156,EAW91157,EAW91158,EAW91159,BAC53621,BAC53622,BAB71079,BAC03672,AAR25620,AAH36381,AAH52565,BAA13381,Q5JV62,Q5JV63,Q5JV64,Q5T1Q1,Q5T1Q2,Q6TV06,Q8NB69,Q92540,Q96N31 Hs.591463 GDB:9785363 C1orf16|EST1C|FLJ23717|KIAA0250|SGA56M|SMG-7 protein-coding 736439 SMN1 survival of motor neuron 1, telomeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants are produced by this gene. 1358253,1358254 14715275,14697339,14520560,12975319,12878704,12679382,12668731,12663808,12657835,12477932,12459587,12374765,12361597,12221125,12192051,12095920,12067652,12065586,12021369,11996521,11992267,11935338,11907229,11875052,11835381,11792806,11791208,11773003,11748230,11720283,11714716,11713266,11704667,11641277,11574476,11551898,11522829,11509230,11448987,11438536,11313744,11149922,11135666,11092763,10942426,10851237,10767334,10734235,10732817,10732802,10725331,10601333,10369862,10339583,10205267,18332255,18269687,18172693,18071605,17850955,17682539,17635841,17625510,17592254,17585203,17475491,17415510,17392705,17250498,17250497,17081983,17049859,17023415,16936383,16931506,16845275,16786553,16651888,16617248,16565220,18093976,16481599,16449646,16439605,16331551,16189514,16169070,16118268,16093455,15832310,15726222,15608400,15580564,15526170,15489334,15459957,15372022,15345747,15304326,15249625,15222879,15119481,14972554,14749338,14742439,9845364,9837824,9818944,9600994,9503025,9389483,9323129,9302277,9259265,9158159,9147655,8922999,8838816,8808598,8670859,7813012,7639755,7581461,7552146,15494309 1358253,1358254 6606 NM_000344,NM_022874,XM_001720319,AC005031,AC044797,AC139834,AF092925,U43883,U80017,BC062723,U18423 NP_000335,NP_075012,XP_001720371,AAC62262,AAD37484,AAC50473,AAC52048,AAH62723,AAA66242,Q16637,Q9UNT8,ABM85021,ABW03675 Hs.535788 GDB:5215173 BCD541|SMA|SMA1|SMA2|SMA3|SMA4|SMA@|SMN|SMNT|T-BCD541 survival motor neuron protein-coding 1606833 SMN2 survival of motor neuron 2, centromeric This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7 which is thought to be an exon splice enhancer. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants are produced by this gene. 16565220,16481599,16449646,16439605,8670859,16093455,15944201,15852397,15832310,15790598,15772088,15580564,15489334,15372022,15305106,15304326,15162126,14766219,12915451,12833158,12642665,12477932,12370479,12095920,12067652,12065586,11993528,11925564,11875052,11839954,11835381,11791208,11574476,11551898,11509230,11149922,11135666,10942426,10732817,10732802,10556282,10369862,10205267,9837824,9503025,9259265,9158159,9147655,8838816,8808598,7813012,7639755,7552146,17353931,15130578,9323129,9845364,10531003,17924536,17884807,17850955,17761657,17592254,17585203,17505471,17475491,17307868,17250497,17081983,17049859,16931506,16845275,11714716,17023415 6607 NM_017411,NM_022875,NM_022876,NM_022877,AC004999,AC140134,AF187725,AK289669,BC000908,BC015308,BC070242,CR623997,U21914 NP_059107,NP_075013,NP_075014,NP_075015,AAC83178,BAF82358,AAH00908,AAH15308,AAH70242,AAA64505,Q16637,ABM82472,ABM85660,ABW03676 Hs.202179,Hs.535788 GDB:5215175 BCD541|C-BCD541|FLJ76644|MGC20996|MGC5208|SMNC protein-coding 1319332 SMNDC1 survival motor neuron domain containing 1 1580863 9731529,15494309,17353931,9817934,18211889,16964243,15635413,15489334,12477932,11331595,11331295 10285 NM_005871,AL360182,CH471066,AF083385,AF107463,BC011234,BC039110,CR591263,CR603913,CR612539 NP_005862,CAI15482,EAW49561,EAW49562,EAW49563,EAW49564,AAC64086,AAC84148,AAH11234,O75940 Hs.702187 SMNR|SPF30 protein-coding 733306 SMO smoothened homolog (Drosophila) 704355,1580863 8906787,9422511,18359851,16945339,16867986,16804411,16339184,15618519,15489334,12773389,12690205,12499255,12477932,12192414,12165511,12123571,11748145,11042037,9811851,9799615,9764827,9628830,9581815,8898207,12241103 704355 6608 NM_005631,AB065574,AC011005,AF114821,CH236950,CH471070,AF071494,AF089720,AF120103,AF130867,BC004332,BC009989,U84401 NP_005622,BAC05807,AAD17202,EAL24102,EAW83715,AAC24863,AAF31757,AAD28625,AAH09989,AAB41788,Q8NH34,Q99835,Q9Y2Y5,ABM87646 Hs.437846 Gx|SMOH protein-coding 1348217 SMOC1 SPARC related modular calcium binding 1 1331355 17386346,15489334,12508121,12477932,12130637 1331355 64093 NM_001034852,NM_022137,AL135747,AL157789,CH471061,AJ249900,AK098441,AK289988,BC008608,BC011548,BX110623,CR610837,CR613515,CR615496,CR626369 NP_001030024,NP_071420,EAW81013,EAW81014,EAW81015,EAW81016,CAC10352,BAF82677,AAH08608,AAH11548,Q9H4F8,ABM82709,ABM85893 Hs.497349 protein-coding 1315436 SMOC2 SPARC related modular calcium binding 2 625567 17204727,16774925,15489334,14702039,14574404,12741954,12477932,12031507 625567 64094 NM_022138,AL109940,AL138918,AL391319,AL442124,CH471051,AB014730,AB014737,AF173892,AF176778,AJ249902,AJ420521,AK056700,AL832303,BC028420,BC047583,CR622344 NP_071421,CAI20528,CAI20529,CAI20434,CAI20435,CAI39894,CAI39895,CAI39896,CAH73156,CAH73157,EAW47461,EAW47462,EAW47463,EAW47464,BAB20267,BAB20274,AAQ13639,AAQ13656,CAC10353,CAI46175,AAH28420,AAH47583,Q1MTM5,Q7Z4C9,Q9H3U7 Hs.487200 MST117|MSTP117|MSTP140|RP11-270C4__A.1|SMAP2|SMOC-2|bA270C4A.1|bA37D8.1|dJ421D16.1 protein-coding 1314443 SMOX spermine oxidase The product of this gene is the polyamine oxidase. This enzyme potentially represents a new class of catabolic enzymes in the mammalian polyamine metabolic pathway capable of the efficient oxidation of polyamines. More than five transcript variants encoding four active isoenzymes have been identified for this gene, however, not all variants have been fully described. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. 18422650,16207710,15489334,15221502,14764092,14702039,12975309,12727196,12477932,12458219,12398765,12141946,11780052,11454677,3181599,12798 54498 NM_175839,NM_175842,NM_175840,NM_175841,AL121675,CH471133,AF519179,AK000753,AK025938,AK127286,AL162058,AY033889,AY033890,AY033891,AY358104,BC000669,BG480614,CR596452,CR598868,EF032141,U61836 NP_787033,NP_787036,NP_787034,NP_787035,CAI22747,CAI22748,CAI22749,EAX10457,EAX10458,EAX10459,EAX10460,EAX10461,EAX10462,EAX10463,AAN77119,BAA91360,BAB15288,CAB82396,AAK55763,AAK55764,AAK55765,AAQ88471,AAH00669,ABM01872,Q5TE25,Q9NWM0 Hs.433337 C20orf16|FLJ20746|MGC1010|PAO|PAOh1|SMO|dJ779E11.1 protein-coding 1349414 SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal 1601336,1601345,1601347,1580863 7670466,18426979,18264947,18088425,18052040,17698617,17381401,16787399,16642440,16472269,16245071,16051685,16010684,15997205,15888438,15877209,15849201,15769735,15743760,15383576,15241805,15221801,15175033,12953170,12815059,12801930,12631268,12556236,12477932,12369017,12208520,11788605,11001565,9030779,8693491,8680412,8664904,8407868,8051942,2555181,2023926,2004772,1885770,1840600,1740330,1711683,1618760,1391960,1301192,1292508,15509740,9110068,1718266 1601336,1601345,1601347 6609 NM_001007593,NM_000543,AC068733,CH471064,M59917,M81780,X63600,AB209775,AK292388,AY649987,BC041164,BU845962,CR615854,M59916,X52678,X52679,X59960 NP_001007594,NP_000534,EAW68726,EAW68727,EAW68728,EAW68729,AAA58378,AAA75008,AAA75009,CAA45145,BAD93012,BAF85077,AAV68198,AAH41164,AAA58377,CAA36901,CAA36902,CAA42584,P17405,Q59EN6,Q8IUN0 Hs.498173 GDB:128144 ASM|NPD protein-coding 732430 SMPD2 sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 1580863 9520418,18040843,17272284,17212982,16344560,15489334,15175033,15051724,12477932,10608884,8889548,15509740 6610 NM_003080,AL109947,CH471051,AJ222801,BC000038,CA314251,CR591613,DA672570 NP_003071,CAI23338,CAI23340,CAI23341,EAW48346,CAA10995,AAH00038,O60906,Q5TED1,ABM82805 Hs.55235 GDB:9848830 NSMASE|NSMASE1 protein-coding 1347416 SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 1580863 16517606,15489334,15051724,14741383,12566438,12477932,12417987,10823942,17349629,17085432,16631623 55512 NM_018667,AC099521,CH471092,AA461272,AJ250460,AK026246,AL157660,AW163364,BC012727,BC041828,BC112238,BI196095,CA424980,CB268111,DQ424899 NP_061137,EAW83233,CAB92964,BAB15409,AAI12239,ABD83664,Q1ZYL9,Q9H657,Q9NY59 Hs.368421 GDB:11508546 FLJ22593|MGC138443|NSMASE2 protein-coding 1604348 SMPD4 sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM] 15231747,16517606,16344560,15815621,15489334,14702039,12477932,11230166,10718198,9110174,8889549,8619474,15509740,17353931 55627 AA232420,AB037839,AF052134,AK000304,AK000763,AK001227,NM_017751,NM_017951,AC018804,CH471263,AK056501,AK126920,AL136737,BC040941,BC064947,CR533550,CR614315,DB137488,EU367941 EAW55598,EAW55599,EAW55600,EAW55601,BAA92656,BAA91070,BAA91368,BAA91567,NP_060221,NP_060421,AAY14883,EAW55597,BAC86751,CAB66671,AAH64947,CAG38581,ACA48221,Q9NXE4 Hs.516450 FLJ20297|FLJ20756|KIAA1418|NSMASE3|nSMase-3 protein-coding 1347939 SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A 1580863 12442002,15489334,14574404,12477932,16189514 10924 NM_006714,AL732431,CH471051,AK000184,BC018999,CR620022,Y08136 NP_006705,CAI23631,EAW48163,EAW48164,AAH18999,CAA69330,Q92484,ABM83133,ABM86328 Hs.486357 ASM3A|ASML3a|FLJ20177|yR36GH4.1 protein-coding 1316663 SMPDL3B sphingomyelin phosphodiesterase, acid-like 3B 1580863 16710414,15489334,12477932 27293 BC014444,BQ011468,BX389470,CB160850,CR613549,Y08134,NM_014474,NM_001009568,AL512288,CH471059 EAX07723,AAH14444,CAA69328,Q92485,NP_055289,NP_001009568,CAI14293,CAI14294,CAI14295,EAX07721,EAX07722 Hs.123659 ASML3B protein-coding 736270 SMPX small muscle protein, X-linked 1580863 10598820,15489334,12477932,11401441 23676 NM_014332,AL772370,AL772392,CH471074,AF129505,AJ250584,BC005948 NP_055147,EAW98980,EAW98981,AAF19343,CAC08492,AAH05948,Q5VSM2,Q9UHP9 Hs.86492 GDB:10794622 protein-coding 1349580 SMR3A submaxillary gland androgen regulated protein 3A 9354371,17512016 26952 NM_012390,AC106884,CH471057,D89501,CA946421,CD722466,CD722957 NP_036522,EAX05618,BAA13971,Q99954 Hs.701334 GDB:11510196 P-B1|PBI|PRL5|PROL5 protein-coding 1345383 SMR3B submaxillary gland androgen regulated protein 3B 7982889,15489334,12477932,10731710,1747107,479131 10879 NM_006685,AB031740,AC106884,CH471057,BC015327,BC094707,BX487896,CB958582,D29833 NP_006676,BAA88517,EAX05619,AAH15327,AAH94707,BAA06213,P02814,Q504X8 Hs.650650 GDB:9958441 MGC104379|P-B|PBII|PRL3|PROL3|SMR1B protein-coding 1345734 SMS spermine synthase The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes an ubiquitous enzyme of polyamine metabolism. 1580863 9299240,7546290,15772651,15592455,15489334,14508504,12665801,12477932,9847074,8826448,5823961 6611 CH471074,U53331,AD001528,BC009898,BC085621,CR591187,CR591649,CR591729,CR594549,CR598032,CR606127,CR607592,CR608120,CR617125,CR617235,CR619263,CR620002,CR624184,CR624838,NM_004595,Z49099 NP_004586,EAW98984,EAW98985,EAW98986,AAD08634,AAB61308,AAH09898,AAH85621,CAA88921,P52788,ABW03798 Hs.288487 GDB:136337,GDB:696225 MRSR|SPMSY|SRS|SpS protein-coding 1320987 SMTN smoothelin This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in three transcript variants. 1580863 8707825,15302935,14702039,12477932,12176134,11316948,10627276,10591208,10550614,10023782,10023778,9847074,9373149,9244445,9113392,8125298,16189514 6525 AK092684,AK095916,AK095930,AK096953,AK128627,AK128719,AK225648,AY061971,AY061972,BC034237,CR606811,Y13492,Z49989,NM_134269,NM_134270,NM_006932,AC005005,AF115570,CH471095,AB209643,AF064238,AJ010306 AAL36149,AAL36150,AAH34237,CAA73884,CAA90281,P53814,Q59F18,Q96EQ7,ABM82102,ABM85284,NP_599031,NP_599032,NP_008863,AAD15619,AAF03562,AAF03563,EAW59925,EAW59926,EAW59927,EAW59928,EAW59929,EAW59930,EAW59931,EAW59932,EAW59933,BAD92880,AAF01481,CAA09077 Hs.149098 GDB:5822921 FLJ35365|FLJ38597 protein-coding 1601815 SMTNL1 smoothelin-like 1 15327999,8889549 219537 NM_001105565,AP002893 NP_001099035,A8MU46 Hs.68756 CHASM protein-coding 1605229 SMTNL2 smoothelin-like 2 16344560,12477932 342527 NM_198501,NM_001114974,AC118754,CH471108,AK124452,BC105050,BC110859,BC112177,DA822419,DB557882 NP_940903,NP_001108446,EAW90429,EAW90430,EAW90431,BAC85855,AAI05051,AAI10860,AAI12178,Q2TAL5 Hs.441709 FLJ42461|MGC131847|MGC138382 protein-coding 1343755 SMU1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 724659 15570572,17041588,15489334,15164053,14702039,12477932,11438655,11410362,9373149,8125298 724659 55234 NM_018225,AL162590,CH471071,AK001667,AK001732,AK022032,AK225559,AK225587,AL512690,BC002876,BC110654,CR595641,CR596512,CR605019,EF011613 NP_060695,CAI15554,EAW58522,EAW58523,BAA91822,BAB13956,AAH02876,AAI10655,ABK41103,Q2TAY7,ABM83931,ABM87250 Hs.655351,Hs.679417 BWD|DKFZp761L0916|FLJ10805|FLJ10870|FLJ11970|MGC117363|RP11-54K16.3|SMU-1 protein-coding 1606814 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 SMUG1 is a glycosylase that removes uracil from single- and double-stranded DNA in nuclear chromatin, thus contributing to base excision repair.[supplied by OMIM] 16189514,10583946,12161446,12718543,11937636,18270339,17537817,17150750,17029639,16407970,15489334,15466595,14702039,12820976,12477932,11526119,10074426,9373149,8125298,16103149 23583 AK001789,AK091468,AK222473,AK290274,BC000417,BC088352,BC105607,CR591967,CR595676,CR609554,NM_014311,AC023794,AF489699,CH471054,AF125182,AK001235 BAA91571,BAC03670,BAD96193,BAF82963,AAH00417,AAH88352,AAI05608,Q0D2M0,Q53HV7,NP_055126,AAL86910,EAW96752,EAW96753,EAW96754,EAW96755,EAW96756,EAW96757,AAD17301 Hs.632721 FDG|HMUDG|MGC104370|UNG3 protein-coding 1603623 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. A similar protein in Xenopus is involved in embryonic pattern formation. Alternative splicing results in multiple transcript variants encoding different isoforms. An additional transcript variant has been identified, but its full length sequence has not been determined. 16299379,10458166,18380791,17676934,17510966,17190792,16720724,16611643,16540523,16472676,15761153,15710384,15252135,15138260,14722617,14702039,14657501,12853948,12690205,12519765,12477932,12151385,11278251,10997877,10708948,9110174,8619474,14657019,15820682 57154 NM_181349,NM_020429,AC004893,AC073468,AC114500,CH236956,CH471091,AB046845,AF199364,AF464850,AK057024,AK126471,AL833673,AL834242,AY007164,BC008574,BC152468 NP_851994,NP_065162,AAC62434,EAL23885,EAL23886,EAW76686,EAW76687,EAW76688,EAW76689,EAW76690,BAB13451,AAF08298,AAM90910,BAC86561,CAD38919,AAI52469,Q547Q3,Q6ZTM5,Q8NDD8,Q9HCE7 Hs.189329 KIAA1625 protein-coding 1345810 SMURF2 SMAD specific E3 ubiquitin protein ligase 2 1580863 17719543,14755250,15621726,11016919,11158580,11163210,18181147,16641086,16061177,15862290,15761153,15574587,15489334,15342556,15231748,15146197,15138260,14722617,14702039,12477932,11389444,14562029 64750 NM_022739,AC009994,AC132812,CH471109,AF301463,AF310676,AK002019,AY014180,BC009527,BC051283,BC093876,BC111945,BP363931,CB267500,CN310238,CN370887,CR936721 NP_073576,EAW94193,EAW94194,EAW94195,AAG25641,AAG45422,AAG50421,AAH09527,AAH93876,AAI11946,Q96DE7,Q9HAU4 Hs.705442 DKFZp686F0270|MGC138150 protein-coding 1312941 SMYD1 SET and MYND domain containing 1 1580757 15489334,14702039,12858532,12477932,12011100,11923873,7590968 1580757 150572 NM_198274,AC092836,CH471215,AF086123,AK022290,AK091724,AL832035,AY518933,AY518934,BC017915,BC126191,BX647878 NP_938015,EAW77077,EAW77078,EAW77079,EAW77080,BAC03732,CAI46139,AAT44535,AAT44536,AAI26192,CAI46077,Q5GJ32,Q5GJ33,Q5HYE8,Q8NB12 Hs.516176 BOP|ZMYND18|ZMYND22 protein-coding 1354091 SMYD2 SET and MYND domain containing 2 SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM] 1580863 16710414,15489334,12477932,9110174,8619474,17353931,18065756,16805913 56950 AL929236,CH471100,AF070592,AF226053,AK098683,AW474469,BC017080,BC028104,BC039890,BC049367,BC057793,BC068511,BC094747,BC098133,BC098276,BC098305,BC098335,BG723585,CR589978,CR592315,CR613242,CR617804,NM_020197,CR622801 NP_064582,CAH70920,EAW93355,EAW93356,EAW93357,EAW93358,AAF86953,AAH17080,AAH28104,AAH49367,AAH94747,AAH98133,AAH98276,AAH98305,AAH98335,Q05C86,Q4QQG9,Q504V6,Q86XX6,Q96AI4,Q9NRG4 Hs.66170 HSKM-B|KMT3C|MGC119305|ZMYND14 protein-coding 1348508 SMYD3 SET and MYND domain containing 3 SMYD3 is a histone methyltransferase that plays a role in transcriptional regulation as a member of an RNA polymerase complex.[supplied by OMIM] 1580863 14667819,17353931,18294291,18027872,17998933,17963297,17431393,16710414,16441421,16155568,16081583,15489334,15235609,14702039,12477932,16189514 64754 NM_022743,AC092801,AC094022,AC118555,AL356583,AL358859,AL358941,AL445468,AL512412,CH471148,AB057595,AK023594,AK024733,AK289605,AY186742,BC017079,BC031010,BC107725,CR597338,CR600947,CR604227,CR621503 NP_073580,CAI16630,CAI14746,EAW77139,EAW77140,EAW77141,EAW77142,EAW77143,EAW77144,BAB86333,BAB14981,BAF82294,AAO31695,AAH17079,AAH31010,AAI07726,Q3B7A0,Q5T4F9,Q9H7B4,ABM83506,ABM86723 Hs.567571 FLJ21080|MGC104324|ZMYND1|ZNFN3A1|bA74P14.1 protein-coding 1316528 SMYD4 SET and MYND domain containing 4 1580863 16344560,15489334,15146197,14702039,12477932,11752456,11572484,8889548 114826 NM_052928,AC130689,CH471108,AB067523,AK057769,AK092149,AK095369,AL137345,AV700545,BC035077,BM676597,CN352185,CR987176,DB219337 NP_443160,EAW90576,BAB67829,BAB71564,BAC03817,BAC04538,AAH35077,Q8IYR2 Hs.514602 KIAA1936|ZMYND21 protein-coding 1319335 SMYD5 SMYD family member 5 8754834,15489334,12477932 10322 NM_006062,AC010913,CH471053,BC009484,BC073806,CR592310,CR592777,DC303248,U50383 NP_006053,EAW99744,EAW99745,AAH73806,AAB38131,Q6GMV2,ABZ92291 Hs.631882 NN8-4AG|RAI15|RRG1|ZMYND23 protein-coding 1347076 SNAI1 snail homolog 1 (Drosophila) The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. 1580863 17353931,18321996,18234959,18089802,18043286,18026186,17952120,17914115,17724139,17692821,17616667,17296734,17072303,17060462,16936774,16858414,16568079,16502042,16207734,16203744,16169460,15836774,15742334,15712635,15647282,15631989,15489334,15467754,15448698,15314165,15302935,15286702,15075229,15026811,14507651,12832491,12668723,12632084,12477932,12161443,12082640,11780052,11245431,10773451,10655587,10585766,10543399,16189514 6615 AF155233,AF177731,AJ245657,AJ245658,AJ245659,AL121712,CH471077,AF125377,AF131208,BC012910,BI822180,CR591963,CR594531,CR596163,CR598990,CR600523,CR603151,CR607902,CR608397,CR614923,CR621605,CR622459,NM_005985 NP_005976,AAD52986,AAD52996,CAB52414,CAC07340,EAW75640,AAD17332,AAF32527,AAH12910,O95863,ABM82525,ABM85719 Hs.48029 GDB:9863281 SLUGH2|SNA|SNAH|dJ710H13.1 protein-coding 1352063 SNAI1L1 snail homolog 1 (Drosophila)-like 1 16804902,12151403,10585766,10543399,9847074 10415 NG_000884,AC006385,AF153502,AJ245660 GDB:9956934 SNAI1L|SNAI1P snail homolog 1 like 1 (drosophila) pseudo 735659 SNAI2 snail homolog 2 (Drosophila) This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. 1600041,1580863 9182671,10866665,18160708,18056415,17984306,17724139,17194444,16952353,16924233,16717446,16707493,16541421,16169465,15737616,15734731,15709186,15489334,15337769,15314165,12477932,12444107,11912130,10518215,10479723,9721220,9373149,9337409,8125298 1600041 6591 AC013701,AF042001,AF084243,CH471068,AA410443,AK223368,BC014890,BC015895,BG706203,CR605323,CR608999,CR610096,CR611662,CR616026,NM_003068,U97060 NP_003059,AAC34288,AAD55240,EAW86700,BAD97088,AAH14890,AAH15895,AAB58705,O00514,O43623,Q53FC1,ABZ92391 Hs.360174 GDB:9863279 MGC10182|SLUG|SLUGH1|WS2D protein-coding 1320115 SNAI3 snail homolog 3 (Drosophila) 12579345,12477932 333929 NM_178310,AC138028,CH471184,BC041461,BC107058,CR616997 NP_840101,EAW66765,AAH41461,AAI07059,Q3KNW1 Hs.673548 GDB:11510873 MGC129606|SMUC|SNAIL3|ZNF293|Zfp293 protein-coding 1604652 SNAP23 synaptosomal-associated protein, 23kDa Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. 16272324,15489334,16180048,12930825,12877659,12832401,12828989,12773094,12665801,12651853,12556468,12551899,12477932,12475239,12434312,12209004,12130530,12124380,12121992,11842301,11444845,11354632,11029050,11001914,10820264,10713150,10588641,10373452,10036234,9815132,9701566,9693005,9614185,9507000,16189514,10839363,9727496,8663154,17825825,17485553,9168999,9070898,12853575,15029241,15610015,15635093 8773 NM_003825,NM_130798,AC018362,AJ278972,AJ278973,AJ278974,CH471125,AJ011915,AK290152,BC000148,BC003686,BC022890,BI918294,BT006916,CR457212,CR608285,U55936,Y09567,Y09568 NP_003816,NP_570710,CAC07504,EAW92556,EAW92557,EAW92558,EAW92559,CAA09864,BAF82841,AAH00148,AAH03686,AAH22890,AAP35562,CAG33493,AAC50537,CAA70760,CAA70761,O00161,ABM85012 Hs.511149 GDB:9956888 HsT17016|SNAP23A|SNAP23B protein-coding 1351785 SNAP23P synaptosomal-associated protein, 23kDa pseudogene 170549 NG_001055,AL121903 GDB:11507899 dJ155G6.3 pseudo 734151 SNAP25 synaptosomal-associated protein, 25kDa Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. 1579958 17427194,17325714,17325713,16939418,16801949,16672379,16381901,16189514,16169070,16088329,15823421,15752769,15717291,15603740,15592454,15489336,15489334,15121806,15007392,14709554,14702039,12853575,12847087,12814864,12691775,12660803,12499044,12477932,12475239,12459461,12403834,12145319,12114505,12062043,11920846,11832947,11832227,11780052,11524423,11509230,11493665,11438521,11076863,10954418,10906076,10886332,10825299,10692432,10644766,10625663,10373452,10336434,10195194,10085240,9817754,9556632,9452464,9395480,9373149,9349529,9168999,17455213,8692999,11438518,8760387,15537656,18347838,18191416,18041776,17908175,17877635,17501935,8999968,8663154,8661740,8125298,8112622,8056350,7961655,7768895,7622514,15635093 1579958 6616 NM_003081,NM_130811,AL023913,AL354824,CH471133,AK026732,AK090857,AK094560,AK098347,AK098767,AK223617,AK289647,BC010647,BI604120,BT019684,BX647443,CR593483,CR595223,CR603170,CR605011,CR606156,CR607483,CR609324,CR610237,CR614022,CR619486,CR619659,CR624018,CR624370,D21267,L19760,L19761 NP_003072,NP_570824,EAX10346,EAX10347,EAX10348,EAX10349,EAX10350,EAX10351,EAX10352,EAX10353,BAD97337,BAF82336,AAH10647,AAV38490,BAA22370,AAC37545,AAC37546,P60880,Q53EM2,Q5U0B5,CAL38108,CAL38529 Hs.167317 GDB:355671 FLJ23079|RIC-4|RIC4|SEC9|SNAP|SNAP-25|bA416N4.2|dJ1068F16.2 synaptosomal-associated protein protein-coding 735746 SNAP29 synaptosomal-associated protein, 29kDa This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. 1299477,1580863 10839363,9852078,16189514,15968592,15890653,15489334,15461802,15371016,12853575,12477932,11707603,11444821,11423532,11317222,10591208,9880331,16009131 1299477 9342 NM_004782,AC007308,AF278704,CH471176,AF115436,AK024704,BC009715,BF435261,BG773022,BT007357,CR456582,CR617204 NP_004773,AAF91421,EAX02935,AAD11436,AAH09715,AAP36021,CAG30468,O95721,CAK54612,CAK54911 Hs.108002,Hs.701035 GDB:9956031 CEDNIK|FLJ21051|SNAP-29 protein-coding 731271 SNAP91 synaptosomal-associated protein, 91kDa homolog (mouse) 1580863 15555551,15489334,15345747,14574404,12847086,12807910,12750376,12732633,12493563,12477932,11779129,10748223,10579202,10436022,10430869,9734811,9110174,8619474,8063760 9892 NM_014841,AL109915,CH471051,AB014556,AF054993,AK289582,BC036650,BC044579,BC060818,CR749348 NP_055656,CAB89292,CAI19452,CAI19453,EAW48656,EAW48657,EAW48658,EAW48659,EAW48660,EAW48661,BAA31631,AAC09352,BAF82271,AAH60818,CAH18201,O60641 Hs.368046 GDB:9958349 AP180|CALM|DKFZp781O0519|KIAA0656 protein-coding 1312249 SNAPC1 small nuclear RNA activating complex, polypeptide 1, 43kDa 1580863 15955816,15489334,12621023,12477932,11094070,11056176,9644240,9003788,8524284,7715707,16189514 6617 NM_003082,AL137129,CH471061,BC014984,BC019038,CR592749,CR614677,CR625836,CR626257,U44754,Z47542 NP_003073,EAW80810,AAH14984,AAH19038,AAC50358,CAA87590,Q16533,ABM83609,ABM86852 Hs.179312 GDB:595536 PTFgamma|SNAP43 protein-coding 1312116 SNAPC2 small nuclear RNA activating complex, polypeptide 2, 45kDa 1580863 7715707,8524284,15489334,12621023,12477932,11318610,11056176,9418884,9373149,8633057,8125298 6618 CR622556,CR623126,U44755,U44898,AC010336,CH471139,AK222926,BC011868,BX647416,CR591186,CR595127,CR597820,CR598669,CR601455,CR603597,CR606420,CR607552,CR612371,CR612830,CR612879,CR615448,NM_003083 AAC50359,AAB06230,Q13487,Q53GK5,ABZ92146,ABZ92431,NP_003074,EAW68957,EAW68958,BAD96646,AAH11868 Hs.631860 GDB:1230440 PTFdelta|SNAP45 protein-coding 1313043 SNAPC3 small nuclear RNA activating complex, polypeptide 3, 50kDa 1580863 9003788,7715707,16901896,15489334,15164053,12621023,12477932,11094070,11056176,8816454,900378,16189514 6619 NM_001039697,AL441925,CH471071,BC014985,BC036031,BC108743,BC121011,BC121012,CR624760,U66413,U71300 NP_001034786,CAI13284,CAI13285,CAI13286,EAW58680,EAW58681,EAW58682,AAH14985,AAI08744,AAI21012,AAI21013,AAD09214,AAC50948,Q5T284,Q8IYE6,Q92966,ABZ92234 Hs.546299 GDB:1230441 MGC132011|MGC33124|PTFbeta|SNAP50 protein-coding 1319171 SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa 11056176,17670747,15955816,15302935,15164053,14702039,12621023,12477932,11856838,7715707,9418884 6621 AL592301,CH471090,NM_003086,AF032387,AK023513,BC013606,CR618502,CT003125 NP_003077,CAI13935,EAW88225,EAW88226,EAW88227,AAC02972,BAB14595,Q5SXM2,Q9H8L9 Hs.113265 GDB:9834782 FLJ13451|PTFalpha|SNAP190 protein-coding 1313202 SNAPC5 small nuclear RNA activating complex, polypeptide 5, 19kDa 1580863 9732265,16344560,16189514,15489334,15146197,12477932,11056176 10302 CD685245,CN347010,CR614188,DB037177,NM_006049,AC116913,CH471082,AF093593,AK024763,BC014315 O75971,NP_006040,EAW77770,EAW77771,EAW77772,AAC61873,AAH14315 Hs.30174 GDB:9956215 SNAP19 protein-coding 1351269 SNAPIN SNAP-associated protein SNAPAP is a component of the SNARE complex of proteins that is required for synaptic vesicle docking and fusion (Ilardi et al., 1999 [PubMed 10195194]). SNAPAP is also a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM] 1580863 10195194,17684020,16980328,16169070,15862967,15635093,15546961,15489334,15231748,15102850,14702039,12923531,12877659,12809483,12659861,12576321,12477932,12191018,11283605,15066994 23557 AK024555,BC000761,BC004494,BT006753,CR590362,CR610984,NM_012437,AL592150,CH471121,AF086837 BAB14927,AAH00761,AAH04494,AAP35399,O95295,Q5SXU8,NP_036569,CAI18797,EAW53287,EAW53288,EAW53289,AAD11417 Hs.32018 SNAPAP protein-coding 733186 SNCA synuclein, alpha (non A4 component of amyloid precursor) Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Two alternatively spliced transcripts of SNCA have been identified. Additional splicing may be present but the full-length nature of these variants has not been determined. 1302528,1302527,1300048,730239,1580863,1302872,1302570,1302583,631849 16176937,16166095,16110277,16081040,16051265,16037493,16020550,16020543,15981014,15978696,15976091,15955578,15944382,15941712,15939304,15935070,15935068,15917102,15911350,15896322,15895422,15863497,15845543,15840579,15817478,15791003,15767574,15765523,15755676,15732111,15731118,15718234,15717024,15685368,15684072,15672325,15671870,15671169,15671022,15670652,15641770,15632170,15628878,15628875,15622440,15615727,15615715,15596612,15591046,15590933,15590652,15576511,15544803,15542733,15541000,15522881,15522241,15502874,15502868,15498564,15496679,15489334,15465356,15459341,15455394,15451225,15451224,15365127,15364911,15338643,15333840,15317865,15304594,15300629,15289452,15282274,15265037,15247485,15236975,15234109,15207266,15180968,15159488,15155902,15135042,15132984,15109581,15103328,15096050,15078109,15050722,15028717,14997013,14996933,14987449,14755719,14742448,14711827,14699135,14692700,14690528,14657500,14657499,14645218,14627698,14596606,14593171,14583385,14572463,14507911,14506232,12973692,12928483,12923682,12923179,12900507,12893833,12885775,12868068,12868067,12867415,12859200,12859192,12857790,12819014,12815663,12815044,12807439,12807436,12784265,12783249,12752402,12727333,12722828,12716914,12716427,12714745,12684441,12672549,12672538,12661766,12598733,12586824,12576551,12558071,12551928,12541013,12534296,12534279,12493604,12477932,12428728,12428717,12377775,12367530,12358748,12352614,12351642,12239163,12220378,12217698,12151787,12145295,12138709,12124613,12122208,12115139,12096713,12084935,12070658,12062445,12059041,12044636,12042811,12025860,11943812,11900526,11893734,11889756,11852183,11823645,11821392,11814405,11814343,11813001,11812782,11812148,11790792,11751692,11748744,11744621,11742726,11724769,11701929,11687285,11683992,11603807,11588587,11532993,11487204,11472875,11447312,11438481,11425308,11376188,11357958,11331421,11292651,11279280,11261505,11227130,11207390,11173882,11162638,11156617,10852916,10764738,10617630,10506125,10464279,10417297,10407019,10319874,10092675,9750188,9462735,9163350,8895469,7802671,7601479,7601450,7558013,12695511,14550771,15556002,18070888,18039462,18036154,18018486,18018485,18018483,18005258,17982729,17963364,17918232,17904099,17873367,17872362,17868672,17853477,17785456,17714183,17708336,17706644,17683088,17681534,17675576,17653558,17625105,17603039,17576801,17573347,17558898,17554782,17531952,17531291,17530780,17489854,17465029,17451452,17408955,17387688,17376994,17374364,17374033,17374032,17373725,17335904,17325715,17309880,17292657,17291816,17254569,17222106,17209570,17209557,17199224,17176082,17174013,17166628,17156376,17156375,17078049,17077307,17055279,17049244,17017543,17017516,17012257,17012252,17010992,17005870,11956199,10818098,9197268,8248242,18485051,18436957,18417705,18413475,18404644,18362284,18329380,18322396,18322262,18282005,18261982,18245082,18211709,18210157,18195271,18195004,18182779,18182484,18179253,18178617,18162536,16997873,16981712,16959795,16959793,16953580,16947080,16934409,16930553,16896314,16896109,16882008,16847063,16824047,16806952,16794039,16780837,16762368,16756753,16752390,16687662,16679557,16679556,16678164,16651889,16611810,16609851,16606927,16606366,16604306,16595633,16567160,16543523,16524375,16520971,16516382,16500997,16464864,16455667,16410343,16406146,16403519,16399671,16358335,16338184,16330551,16330147,16297908,16291942,16269331,16250025,16242637,16239214,16227205,16216085 1302528,1302527,730239,1302872,1302570,1302583,631849 6622 L36674,L36675,NM_000345,NM_007308,AC093759,AC097478,AC108208,AF163864,AY547269,AY548761,CH471057,DQ088379,U46901,AK290169,AY049786,BC013293,BC108275,CR457058,CR541653,CR602374,CR622483,D31839,L08850 AAA98493,AAA98487,P37840,Q4W5L2,Q6QBS3,ABM83490,ABW03506,AAA16117,NP_000336,NP_009292,AAY40956,AAG30302,AAG30303,AAS57868,AAS83394,EAX06035,EAX06036,AAY88735,AAC02114,BAF82858,AAL15443,AAH13293,AAI08276,CAG33339,CAG46454,BAA06625 Hs.271771 GDB:439047 MGC110988|NACP|PARK1|PARK4|PD1 synuclein, alpha protein-coding 1319545 SNCAIP synuclein, alpha interacting protein (synphilin) This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternatively spliced transcript variants encoding different isoforms of this gene have been described, but their full-length nature has yet to be determined. 1580863 11590439,11956199,12364339,14506261,18366718,17982729,17467279,17327361,16877356,16595633,16174773,15894486,15728840,15322916,14702039,14645218,14639662,14627698,12915459,12761037,12750386,12695511,12477932,12044636,11958831,11784370,11427316,11331421,10967135,10319874,15603737,15105460 9627 AB110788,AB110789,AB110790,AB110791,AB110792,AB110793,AB110794,AF076929,AK001617,AK021944,BC033743,BC040552,BC094759,BM908442,DQ227317,NM_005460,AC022101,AC113349,AC119150,AF167306,CH471086 EAW48890,EAW48891,BAD19017,BAD19018,BAD19019,BAD19020,BAD19021,BAD19022,BAD19023,AAD30362,BAA91791,AAH33743,AAH40552,AAH94759,ABB51162,Q05BS1,Q1PSC2,Q49AC6,Q504U9,Q6L980,Q6L981,Q6L982,Q6L983,Q6L984,Q6L985,Q6L986,Q9HC59,Q9NVG1,Q9Y6H5,EAW48889,NP_005451,AAG17478,EAW48887,EAW48888 Hs.426463 GDB:9957822 MGC39814|SYPH1 protein-coding 733869 SNCB synuclein, beta The protein encoded by this gene is highly homologous to alpha-synuclein. These proteins are abundantly expressed in the brain and putatively inhibit phospholipase D2 selectively. The encoded protein, which may play a role in neuronal plasticity, is abundant in neurofibrillary lesions of patients with Alzheimer disease. This protein has been shown to be highly expressed in the substantia nigra of the brain, a region of neuronal degeneration in patients with Parkinson disease; however, no direct relation to Parkinson disease has been established. Two transcript variants encoding the same protein have been found for this gene. 1580863 9806846,18436957,18221001,17681534,17653558,17556099,17092945,16959793,16597821,15591046,15489334,15365127,12867415,12783249,12695511,12477932,11812782,11683992,11588588,11578596,10852916,9163350,8194594,7558013 6620 NM_003085,NM_001001502,AC091934,AF053134,AF053135,AF053136,CH471195,AB209029,BC002902,BM543516,BM967045,BT006627,CR457027,CR594995,CR609945,S69965 NP_003076,NP_001001502,AAC80286,EAW85063,EAW85064,BAD92266,AAH02902,AAP35273,CAG33308,AAB30860,Q16143,Q6IAX7,ABM83896,ABM87217 Hs.90297,Hs.646913 GDB:455616 protein-coding 1345963 SNCG synuclein, gamma (breast cancer-specific protein 1) Synuclein-gamma is a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. High levels of SNCG have been identified in advanced breast carcinomas suggesting a correlation between overexpression of SNCG and breast tumor development. 1580863 17353931,18424589,17681534,17534899,17373700,17369845,17016652,16989287,16821081,16816827,16786148,16597821,16596223,15596044,15591046,15489334,15073123,14576821,14556204,12970872,12873981,12783249,12667059,12566312,12559990,12477932,12446933,12121974,12072430,11812782,11806835,11746666,11585599,11259122,10852916,10828462,10619569,10192768,10048491,9801372,9737786,9700196,9373149,9044857,8125298,16189514 6623 AF010126,AF017256,AF411524,AK223367,BC014098,NM_003087,AC025268,AF037207,AF044311,CH471142,CR541788,CR541790 EAW80316,EAW80317,EAW80318,AAB64109,AAC36550,AAL05870,BAD97087,AAH14098,NP_003078,AAC36586,AAC27738,EAW80315,CAG46587,CAG46589,O76070,Q6FHG5,ABM83260,ABM83431,ABM86645,ABW03516 Hs.349470 GDB:9836247 BCSG1|SR protein-coding 733231 SND1 staphylococcal nuclease and tudor domain containing 1 17353931,7651391,17909068,17632523,17576664,17081983,17081065,15695802,15627504,15592455,15489334,14702039,12917451,12819296,12477932,12234934,11691653,11124528,9809063,9003410,10644367,8756344,16189514,11259168 27044 AC006529,AC008039,AC009181,AC073934,CH236947,CH471070,AB209510,AK096583,AY273894,BC017180,BC020423,BE799345,BM149154,NM_014390,BQ217773,BT009785,CR594791,CR614491,CR614603,U22055 NP_055205,EAW83635,EAW83636,EAW83637,BAD92747,AAP31683,AAH17180,AAP88787,AAA80488,Q59FF0,Q7KZF4,Q86UF7,ABM84558,ABM86455 Hs.122523 TDRD11|p100 p105 coactivator protein-coding 1349916 SNED1 sushi, nidogen and EGF-like domains 1 737633 15162516,12477932 737633 25992 NM_001080437,AC005237,AC093585,AC104809,AF439717,AF439718,AK074062,AK074075,AL050143,BC027939 NP_001073906,AAQ04558,AAQ04563,BAB84888,BAB84901,AAH27939,Q8TER0 Hs.471834 DKFZp586B2420|FLJ00133|SST3|Snep protein-coding 69451 SNF1LK SNF1-like kinase 1580863 14976552,16306228,17565599,12477932,10830953,9920726,7893599,16189514 150094 NM_173354,AP001046,AP001047,AP001751,CH471079,AB047786,AI073528,AK131076,BC038504,BM840872,CF528907 NP_775490,BAA95536,EAX09495,EAX09496,BAD74070,BAC85126,AAH38504,P57059,ABM83392,ABM86605 Hs.282113 GDB:10796446 MSK|SIK|SIK1 protein-coding 1346987 SNF1LK2 SNF1-like kinase 2 1580863 14976552,15511237,15489334,15454081,15067358,14702039,14532992,12624099,12477932,12168954,11230166,9872452,8889548 23235 BC013612,BC078150,BC113459,BC117183,BM799630,BM982514,CB124295,CR611247,NM_015191,AP000925,CH471065,AB018324,AB084424,AB096248,AK000396,AK096463,AK291233,AL136764 CAB66698,AAH13612,AAH78150,AAI13460,AAI17184,Q9H0K1,NP_056006,EAW67146,EAW67147,EAW67148,EAW67149,BAA34501,BAB91442,BAF83922 Hs.269128 DKFZp434K1115|KIAA0781|LOH11CR1I|QIK|SIK2 protein-coding 1604833 SNF8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM] 10419521,17714434,16973552,16371348,16189514,15755741,15489334,15329733,14519844,14505570,12477932,11278625 11267 NM_007241,AC091133,CH471109,AF156102,BC008976,BC038830,CR616160,CR623268 NP_009172,EAW94698,EAW94699,EAW94700,AAD46560,AAH08976,AAH38830,Q96H20 Hs.127249 Dot3|EAP30|VPS22 protein-coding 1603226 SNHG1 small nucleolar RNA host gene (non-protein coding) 1 16344560,14702039,12477932,9387929,8559254,7985025 23642 NR_003098,AP001160,L36587,L36588,U40580,AK095849,BC000839,BC011809,BC017253,BC027980,BC063571,CR592768,CR594343,CR596891,CR603342,CR608260,CR611689,CR613631,CR614757,CR619758,CR621214,DA856235 Hs.655643 U22HG|UHG miscrna 1603252 SNHG10 small nucleolar RNA host gene (non-protein coding) 10 14702039,12477932,8889548 283596 NR_001459,NR_003138,AL133467,AK097876,BC036576,CA313768 Hs.448753 C14orf62|FLJ40557 miscrna 1601936 SNHG11 small nucleolar RNA host gene (non-protein coding) 11 This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. 14702039,12477932 128439 NR_003239,AL049868,AF454939,AF497716,AK055434,BC040237 Hs.16936 C20orf198 miscrna 1350602 SNHG3 small nucleolar RNA host gene (non-protein coding) 3 16344560,12477932,9671460,3678831 8420 NR_002909,AJ006834,AJ006835,BC006790,BC012122,BC017334,DA044266 Hs.469723 GDB:9955117 RNU17C|RNU17D|U17HG|U17HG-A rna, u17d small nucleolar miscrna 1642405 SNHG3-RCC1 SNHG3-RCC1 12477932,3678831 751867 NM_001048197,NM_001048199,NM_001048198,AL513497,BU501614 NP_001041662,NP_001041664,NP_001041663 Hs.469723 protein-coding 1603325 SNHG4 small nucleolar RNA host gene (non-protein coding) 4 9630250,8657112 724102 NR_003141,AJ224166,AJ224167,AJ224168,AJ224169,AJ224170 Hs.268939 U19H miscrna 1349550 SNHG5 small nucleolar RNA host gene (non-protein coding) 5 This gene is a member of both the non-protein-coding multiple snoRNA host gene family and the 5'-terminal oligopyrimidine (5' TOP) class of genes. Two snoRNAs are derived from the introns of this host gene but, although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. The gene is located at the chromosomal translocation breakpoint involved in B-cell lymphoma. 12477932,10792466 387066 NR_003038,AB017710,AL355615,BC009220,BC108291,CD384894,CD388674,CR592254,CR615826,CR617391 Hs.292457 C6orf160|MGC16362|U50HG|bA33E24.2 miscrna 1602236 SNHG6 small nucleolar RNA host gene (non-protein coding) 6 16226852 641638 NR_002599,AC011031,AY264285 Hs.372680 HBII-276HG|U87HG miscrna 1602847 SNHG7 small nucleolar RNA host gene (non-protein coding) 7 14702039,12477932 84973 NR_003672,AK090585,BC007651,BC042369,BC042667,BC055011,BC059956,BC061888,CR599965 Hs.636619 MGC16037 miscrna 1625827 SNHG8 small nucleolar RNA host gene (non-protein coding) 8 15199136,12477932 100093630 NR_003584,AC096762,BC017993,BC039555,CR625561 Hs.535762 miscrna 1604665 SNHG9 small nucleolar RNA host gene (non-protein coding) 9 735301 NR_003142,AC005363,CR749453 Hs.115329 DKFZp686N06141 miscrna 1606779 SNIP SNAP25-interacting protein 14657239,17525734,15822905,15489334,14702039,12477932,11214970,10625663 80725 NM_025248,AC006449,AC115090,AC129916,CH471152,AB051471,AB127405,AK096097,AK126665,AK126676,BC019717,BC029278,BC033233,BX648057 NP_079524,EAW60518,BAB21775,BAD03968,BAC86634,AAH33233,Q75T46,Q9C0H9,AAI56057 Hs.448872 KIAA1684 protein-coding 1605941 SNIP1 Smad nuclear interacting protein 1 17157259,17081983,16189514,15750622,15489334,15378006,15231748,14702039,12477932,12097147,11567019,10887155 79753 NM_024700,AL034379,CH471059,AK022615,AK027622,AY081909,BC027040 NP_078976,CAI20552,EAX07338,BAB14134,BAB55241,AAL91140,AAH27040,Q5TGH1,Q8TAD8 Hs.471951 FLJ12553|RP3-423B22.3|dJ423B22.2 protein-coding 736222 SNN stannin 1580863 9657854,16381901,15489336,15489334,15345747,12477932,11230166,11076863,10233894,9413842,1635553 8303 NM_003498,AC007613,AY325800,CH471112,AF030196,AF070673,AK025795,AL161976,BC005837,BC036100,BC036443,CR542127,CR542138,CR984360 NP_003489,AAP78484,EAW85146,EAW85147,AAC28427,AAC83231,CAB82314,AAH36100,AAH36443,CAG46924,CAG46935,O75324,Q6FGI0,CAL37610,ABM81710,ABM84866 Hs.700592 GDB:9865058 protein-coding 1602758 SNORA1 small nucleolar RNA, H/ACA box 1 16381836,15199136 677792 NR_003026,AP001273,AJ609425 Hs.689724 ACA1 snorna 1602252 SNORA10 small nucleolar RNA, H/ACA box 10 16381836,15199136 574042 NR_002327,AC005363,AJ609432 Hs.679928 ACA10 snorna 1602751 SNORA11 small nucleolar RNA, H/ACA box 11 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266 677799 NR_002953,AM055729 Hs.679783 U107 snorna 1642098 SNORA11B small nucleolar RNA, H/ACA box 11B 100124539 NR_003709,AL121784,AM413016 Hs.693444 snorna 1642097 SNORA11C small nucleolar RNA, H/ACA box 11C 100124540 NR_003710,AL591503,AM413017 Hs.693443 snorna 1642096 SNORA11D small nucleolar RNA, H/ACA box 11D 100124541 NR_003711,AM413018 Hs.522650 snorna 1642113 SNORA11E small nucleolar RNA, H/ACA box 11E 100124542 NR_003712,BX537154,AM413019 Hs.522650 snorna 1602596 SNORA12 small nucleolar RNA, H/ACA box 12 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266 677800 NR_002954,AL138921,AM055730 Hs.662165 U108 snorna 1602777 SNORA13 small nucleolar RNA, H/ACA box 13 16381836,15199136,3342024 654322 NR_002922,AC010261,AJ609455 Hs.689709 ACA13 snorna 1602595 SNORA14A small nucleolar RNA, H/ACA box 14A 16381836,15199136 677801 NR_002955,AC005067,AJ609456 Hs.689708 ACA14a snorna 1602594 SNORA14B small nucleolar RNA, H/ACA box 14B 16381836,15199136 677802 NR_002956,AL732292,AJ609457 Hs.706589 ACA14b snorna 1602593 SNORA15 small nucleolar RNA, H/ACA box 15 16381836,15199136 677803 NR_002957,AC092101,AJ609458 Hs.689706 ACA15 snorna 1602745 SNORA16A small nucleolar RNA, H/ACA box 16A 16381836,15199136 692073 NR_003035,AL513497,AJ609433 Hs.632377 ACA16 snorna 1602536 SNORA16B small nucleolar RNA, H/ACA box 16B 16381836,14602913 692157 NR_004389,AY349599 Hs.707958 U98b snorna 1602592 SNORA17 small nucleolar RNA, H/ACA box 17 16381836,15199136 677804 NR_002958,AL355987,AJ609434 Hs.636619 ACA17 snorna 1602591 SNORA18 small nucleolar RNA, H/ACA box 18 16381836,15199136 677805 NR_002959,AP001273,AJ609471 Hs.355750 ACA18 snorna 1602603 SNORA19 small nucleolar RNA, H/ACA box 19 16381836,15199136,9047361 641451 NR_002917,AL355598,AJ609435 Hs.688653 ACA19 snorna 1602590 SNORA20 small nucleolar RNA, H/ACA box 20 16381836,15199136 677806 NR_002960,AL135914,AJ609459 Hs.689705 ACA20 snorna 1602246 SNORA21 small nucleolar RNA, H/ACA box 21 16381836,15199136,9047361 619505 NR_002576,AC110749,AK095288,AJ609436 Hs.635712 ACA21 snorna 1602589 SNORA22 small nucleolar RNA, H/ACA box 22 16381836,15199136 677807 NR_002961,AC073107,AJ609437 Hs.675336 ACA22 snorna 1602588 SNORA23 small nucleolar RNA, H/ACA box 23 15199136,16381836 677808 NR_002962,AC132192,AJ609438 Hs.689720 ACA23 snorna 1602587 SNORA24 small nucleolar RNA, H/ACA box 24 16381836,15199136 677809 NR_002963,AC096762,AJ609460 Hs.707870 ACA24 snorna 1601779 SNORA25 small nucleolar RNA, H/ACA box 25 16381836,15199136 684959 NR_003028,AP001273,AJ609461 Hs.355750 ACA25 snorna 1602586 SNORA26 small nucleolar RNA, H/ACA box 26 16381836,11387227 677810 NR_003016,AC104066 Hs.635034 HBI-6 snorna 1602377 SNORA27 small nucleolar RNA, H/ACA box 27 16381836,15199136,9047361 619499 NR_002575,AB061826,AJ609439 Hs.689719 ACA27 snorna 1602585 SNORA28 small nucleolar RNA, H/ACA box 28 16381836,15199136 677811 NR_002964,AL138976,AJ609462 Hs.658237 ACA28 snorna 1602584 SNORA29 small nucleolar RNA, H/ACA box 29 16381836,15199136 677812 NR_002965,AL135914,AJ609472 Hs.689701 ACA29 snorna 1602757 SNORA2A small nucleolar RNA, H/ACA box 2A 16381836,15199136 677793 NR_002950,AC079951,AJ609426 Hs.689723 ACA2A snorna 1602756 SNORA2B small nucleolar RNA, H/ACA box 2B 16381836,15199136 677794 NR_002951,AC079951,AJ609427 Hs.683444 ACA2b snorna 1602245 SNORA3 small nucleolar RNA, H/ACA box 3 16381836,15199136,9047361 619562 NR_002580,AJ609428 Hs.689722 ACA3 snorna 1602583 SNORA30 small nucleolar RNA, H/ACA box 30 16381836,15199136 677813 NR_002966,AC106886,AJ609440 Hs.689718 ACA30 snorna 1602582 SNORA31 small nucleolar RNA, H/ACA box 31 16381836,15199136 677814 NR_002967,AL138963,AJ609441 Hs.374596 ACA31 snorna 1602747 SNORA32 small nucleolar RNA, H/ACA box 32 16381836,15199136 692063 NR_003032,AP001273,AJ609442 Hs.355750 ACA32 snorna 1602249 SNORA33 small nucleolar RNA, H/ACA box 33 16381836,15199136,14702039 594839 NR_002436,AL137783,AK096147,AJ609473 Hs.671378 ACA33 snorna 1602581 SNORA34 small nucleolar RNA, H/ACA box 34 16381836,15199136 677815 NR_002968,AC079951,AJ609443 Hs.689717 ACA34 snorna 1602580 SNORA35 small nucleolar RNA, H/ACA box 35 16381836,15199136 677816 NR_002993,AC007025 Hs.693123 HBI-36 snorna 1602579 SNORA36A small nucleolar RNA, H/ACA box 36A 16381836,15199136 677817 NR_002969,AC109993,AJ609463 Hs.689704 ACA36 snorna 1602578 SNORA36B small nucleolar RNA, H/ACA box 36B 16381836,15199136 677818 NR_002994,AL445435 Hs.690442 ACA36b snorna 1642102 SNORA36C small nucleolar RNA, H/ACA box 36C 100124535 NR_003705,AC079121,AM413012 Hs.693447 snorna 1602577 SNORA37 small nucleolar RNA, H/ACA box 37 16381836,15199136 677819 NR_002970,AC093462,AJ609444 Hs.655869 ACA37 snorna 1602576 SNORA38 small nucleolar RNA, H/ACA box 38 16381836,15199136 677820 NR_002971,AL662801,AL662847,AL805934,AJ609474 Hs.689700 ACA38 snorna 1642101 SNORA38B small nucleolar RNA, H/ACA box 38B 100124536 NR_003706,AC006534,AM413013 Hs.693446 snorna 1602575 SNORA39 small nucleolar RNA, H/ACA box 39 16381836,15199136 677821 NR_002972,AL049868,AJ609475 Hs.16936 ACA39 snorna 1602240 SNORA4 small nucleolar RNA, H/ACA box 4 16381836,15199136 619568 NR_002588,AJ609452 Hs.689712 ACA4 snorna 1602574 SNORA40 small nucleolar RNA, H/ACA box 40 16381836,15199136 677822 NR_002973,AP001273,AJ609445 Hs.355750 ACA40 snorna 1602239 SNORA41 small nucleolar RNA, H/ACA box 41 16381836,15199136,3342024 619569 NR_002590,AJ609464 Hs.689703 ACA41 snorna 1602573 SNORA42 small nucleolar RNA, H/ACA box 42 16381836,15199136 677823 NR_002974,AL355388,AJ609465 Hs.676501 ACA42 snorna 1605446 SNORA43 small nucleolar RNA, H/ACA box 43 16381836,15199136 677824 NR_002975,AL355987,BC105975,AJ609446 Hs.636619 ACA43 snorna 1602572 SNORA44 small nucleolar RNA, H/ACA box 44 16381836,15199136 677825 NR_002976,AL513497,AJ609466 Hs.632377 ACA44 snorna 1602571 SNORA45 small nucleolar RNA, H/ACA box 45 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266 677826 NR_002977,AC091053,AM055744 Hs.701921 ACA3-2 snorna 1602570 SNORA46 small nucleolar RNA, H/ACA box 46 16381836,15199136 677827 NR_002978,AC009118,AC010287,AJ609467 Hs.688592 ACA46 snorna 1602569 SNORA47 small nucleolar RNA, H/ACA box 47 16381836,11387227 677828 NR_003014,AC008581 Hs.693249 HBI-115 snorna 1602941 SNORA48 small nucleolar RNA, H/ACA box 48 16381836,15199136,9047361 652965 AJ609447,NR_002918,AC016876 Hs.129673 ACA48 snorna 1602568 SNORA49 small nucleolar RNA, H/ACA box 49 16381836,15199136 677829 NR_002979,AC137590,AJ609476 Hs.689699 ACA49 snorna 1602567 SNORA50 small nucleolar RNA, H/ACA box 50 16381836,15199136 677830 NR_002980,AC010287,AJ609468 Hs.677515 ACA50 snorna 1602566 SNORA51 small nucleolar RNA, H/ACA box 51 16381836,15199136 677831 NR_002981,AL049712,AJ609477 Hs.689698 ACA51 snorna 1602242 SNORA52 small nucleolar RNA, H/ACA box 52 16381836,15199136,9047361 619565 NR_002585,AJ609448 Hs.689713 ACA52 snorna 1602565 SNORA53 small nucleolar RNA, H/ACA box 53 16381836,15199136 677832 NR_003015,AC013283 Hs.693250 ACA53 snorna 1602564 SNORA54 small nucleolar RNA, H/ACA box 54 16381836,15199136 677833 NR_002982,AC131971,AJ609479 Hs.689696 ACA54 snorna 1602563 SNORA55 small nucleolar RNA, H/ACA box 55 16381836,15199136 677834 NR_002983,AL365277,AJ609480 Hs.676660 ACA55 snorna 1602562 SNORA56 small nucleolar RNA, H/ACA box 56 16381836,15199136 677835 NR_002984,AC109993,AJ609449 Hs.660810 ACA56 snorna 1602535 SNORA57 small nucleolar RNA, H/ACA box 57 16381836,15199136,14602913 692158 NR_004390,AY349600 Hs.640726 U99 snorna 1602561 SNORA58 small nucleolar RNA, H/ACA box 58 16381836,15199136 677836 NR_002985,AC107027,AJ609450 Hs.673861 ACA58 snorna 1602545 SNORA59A small nucleolar RNA, H/ACA box 59A 16381836,15199136 677885 NR_003025,AL031296,AJ609481 Hs.439381 ACA59 snorna 1602546 SNORA59B small nucleolar RNA, H/ACA box 59B 16381836,15199136 677882 NR_003022,AC025627 Hs.658450 ACA59 snorna 1602780 SNORA5A small nucleolar RNA, H/ACA box 5A 16381836,15199136 654319 NR_002919,AC013416,CH236960,AJ609453 Hs.689711 ACA5|ACA5A/B/C snorna 1602755 SNORA5B small nucleolar RNA, H/ACA box 5B 16381836,15199136 677795 NR_002990,AC013416,CH236960 Hs.693124 ACA5b snorna 1602754 SNORA5C small nucleolar RNA, H/ACA box 5C Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266,15199136 677796 NR_002991,AC013416,CH236960,AM055746 Hs.692718 ACA5c snorna 1602253 SNORA6 small nucleolar RNA, H/ACA box 6 16381836,15199136 574040 NR_002325,AC099332,AF375472,AJ609429 Hs.449909 ACA6 snorna 1602560 SNORA60 small nucleolar RNA, H/ACA box 60 16381836,15199136,14702039 677837 NR_002986,AL049868,AK091209,AJ609469 Hs.16936,Hs.706159 ACA60 snorna 1602559 SNORA61 small nucleolar RNA, H/ACA box 61 16381836,15199136 677838 NR_002987,AL513497,AJ609451 Hs.632377 ACA61 snorna 1350000 SNORA62 small nucleolar RNA, H/ACA box 62 16381836,8421699,8415643 6044 NR_002324,AC099332,U36484,U43901,L07383 Hs.449909 GDB:137177 E2|E2-1|RNE2|RNU108 snorna 1348131 SNORA63 small nucleolar RNA, H/ACA box 63 9182768,9144174,9047361,8421699,8415643,8391637 6043 NR_002586,AC112907,L22740,L07384 Hs.707867 GDB:137178 E3|E3-2|RNE3|RNU107 snorna 1342964 SNORA64 small nucleolar RNA, H/ACA box 64 16381836,15199136,9106664 26784 NR_002326,AC005363,Y11158 Hs.684859 GDB:10795816 RNU64|U64 snorna 1345878 SNORA65 small nucleolar RNA, H/ACA box 65 16381836,15199136,9106664 26783 NR_002449,AL445222,Y11159 Hs.656353 GDB:10795818 RNU65|U65 snorna 1343246 SNORA66 small nucleolar RNA, H/ACA box 66 16381836,15199136 26782 NR_002444,AL162740,Y11160 Hs.657439 GDB:10795819 RNU66|U66 snorna 1352748 SNORA67 small nucleolar RNA, H/ACA box 67 16381836,15199136,9182768,9106664 26781 NR_002912,AC016876,Y11161 Hs.684858 GDB:10795821 RNU67|U67 snorna 1347171 SNORA68 small nucleolar RNA, H/ACA box 68 9182768,9106664 26780 NR_000012,AC005796,Y11162 Hs.684118 GDB:10795822 RNU68|U68 snorna 1344266 SNORA69 small nucleolar RNA, H/ACA box 69 16381836,15199136,9182768,9106664,3342024 26779 NR_002584,AB061835,AC005052,CR625387,Y11163 Hs.558387,Hs.675255 GDB:10795824 RNU69|U69|U69A snorna 1342682 SNORA70 small nucleolar RNA, H/ACA box 70 15199136,9106664,8733135 26778 NR_000011,BX936347,L44140,M81806,Y11164 Hs.684857 GDB:11507616 DXS648E|RNU70|U70 snorna 1642100 SNORA70B small nucleolar RNA, H/ACA box 70B 100124537 NR_003707,AC016894,AM413014 Hs.675825 snorna 1642099 SNORA70C small nucleolar RNA, H/ACA box 70C 100124538 NR_003708,AL355608,AM413015 Hs.693445 snorna 1351285 SNORA71A small nucleolar RNA, H/ACA box 71A 15199136,9106664 26777 NR_002911,AL080249,Y11165 Hs.681779 GDB:10795825 RNU71A|U71a snorna 1349458 SNORA71B small nucleolar RNA, H/ACA box 71B 9106664,15199136 26776 NR_002910,AL080249,Y11166 Hs.400876 GDB:10795826 RNU71B|U71b|rnu71b rna, u71b small nucleolar snorna 1602558 SNORA71C small nucleolar RNA, H/ACA box 71C 16381836,15199136 677839 NR_003017,AL080249 Hs.400876 U71c snorna 1602557 SNORA71D small nucleolar RNA, H/ACA box 71D 16381836,15199136 677840 NR_003018,AL080249 Hs.653086 U71d snorna 1349239 SNORA72 small nucleolar RNA, H/ACA box 72 9047361,9182768,9106664 26775 NR_002581,AB070559,AP003352,Y11167 Hs.684855 GDB:10795827 RNU72|U72 snorna 1354060 SNORA73A small nucleolar RNA, H/ACA box 73A 8421699,8391637,8335005 6080 NR_002907,AL513497,L16791,L07382,S63405 GDB:206679 E1|E1-7|E1b|RNE1|RNU17A|U17A snorna 1345459 SNORA73B small nucleolar RNA, H/ACA box 73B 8335005 6081 NR_004406,L16792 GDB:206682 RNU17B|U17B snorna 1345962 SNORA74A small nucleolar RNA, H/ACA box 74A 9630250,8657112 26821 AC011404,X94290,NR_002915 Hs.684893 GDB:10795767 RNU19|U19 snorna 1602556 SNORA74B small nucleolar RNA, H/ACA box 74B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266,15199136 677841 NR_002988,AC008429,AM055743 Hs.692720 U19-2 snorna 1602778 SNORA75 small nucleolar RNA, H/ACA box 75 16381836,15199136,9182768 654321 NR_002921,AC017104,AJ007015 Hs.674388 U23 snorna 1602555 SNORA76 small nucleolar RNA, H/ACA box 76 16381836,15199136 677842 NR_002995,AC025362 Hs.405444 ACA62 snorna 1602554 SNORA77 small nucleolar RNA, H/ACA box 77 16381836,15199136 677843 NR_003019,AC114402 Hs.676135 ACA63 snorna 1602553 SNORA78 small nucleolar RNA, H/ACA box 78 16381836,15199136 677844 NR_003020,AC005363,AC005606 Hs.707294 ACA64 snorna 1602552 SNORA79 small nucleolar RNA, H/ACA box 79 16381836,15199136 677845 NR_003021,AC010582,AL136040 Hs.693251 ACA65 snorna 1602244 SNORA7A small nucleolar RNA, H/ACA box 7A 16381836,15199136,9047361 619563 NR_002582,AJ609430 Hs.265174 ACA7 snorna 1602753 SNORA7B small nucleolar RNA, H/ACA box 7B 16381836,15199136 677797 NR_002992,AL449212 Hs.652423 ACA7B snorna 1602779 SNORA8 small nucleolar RNA, H/ACA box 8 16381836,15199136,3342024 654320 NR_002920,AP001273,AJ609454 Hs.355750 ACA8 snorna 1602551 SNORA80 small nucleolar RNA, H/ACA box 80 16381836,15199136 677846 NR_002996,AP000268 Hs.542585 ACA67 snorna 1602550 SNORA81 small nucleolar RNA, H/ACA box 81 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM] 16381836,16361266,15199136 677847 NR_002989,AC112907,AM055745 Hs.688848 HBI-61 snorna 1642103 SNORA84 small nucleolar RNA, H/ACA box 84 100124534 NR_003704,AL136097,AM413009 Hs.693449 snorna 1602752 SNORA9 small nucleolar RNA, H/ACA box 9 16381836,15199136 677798 NR_002952,AC004847,CH236960,AJ609431 Hs.25892 ACA9 snorna 1602940 SNORD10 small nucleolar RNA, C/D box 10 9844635 652966 NR_002604,AC016876 Hs.709127 mgU6-77 snorna 1602250 SNORD100 small nucleolar RNA, C/D box 100 11387227 594838 NR_002435,AB061840,AL137783 HBII-429 snorna 1602251 SNORD101 small nucleolar RNA, C/D box 101 14602913 594837 NR_002434,AL137783,AY349602 U101 snorna 1602329 SNORD102 small nucleolar RNA, C/D box 102 14602913 26771 NR_002574,AB061826,AL159977,AY349603 GDB:10795835 RNU102|Z18 snorna 1602349 SNORD103A small nucleolar RNA, C/D box 103A 14602913 692234 NR_004054,AY349604 U103 snorna 1602352 SNORD104 small nucleolar RNA, C/D box 104 14602913 692227 NR_004380,AY349605 U104 snorna 1602351 SNORD105 small nucleolar RNA, C/D box 105 14602913 692229 NR_004381,AY349606 U105 snorna 1626531 SNORD105B small nucleolar RNA, C/D box 105B 100113382 NR_003688,AM413024 snorna 1606194 SNORD107 small nucleolar RNA, C/D box 107 11726556 91380 NR_001293,NG_002690,AC124312,AY055806 HBII-436 snorna 1605817 SNORD108 small nucleolar RNA, C/D box 108 11726556 338427 NR_001292,NG_002690,AC124312,AY055807 HBII-437 snorna 1605816 SNORD109A small nucleolar RNA, C/D box 109A 11726556 338428 NR_001295,NG_002690,AC124312,AY055808 HBII-438A snorna 1605815 SNORD109B small nucleolar RNA, C/D box 109B 11726556 338429 NR_001289,NG_002690,AC100774 HBII-438B snorna 1602748 SNORD11 small nucleolar RNA, C/D box 11 11387227 692058 NR_003031,AC064836 HBII-95 snorna 1602359 SNORD110 small nucleolar RNA, C/D box 110 11387227 692213 NR_003078,AL049712 HBII-55 snorna 1602358 SNORD111 small nucleolar RNA, C/D box 111 11387227 692214 NR_003079,AC106804 HBII-82 snorna 1626520 SNORD111B small nucleolar RNA, C/D box 111B 100113402 NR_003696,AC106804,AM413027 snorna 1602357 SNORD112 small nucleolar RNA, C/D box 112 12045206 692215 NR_003080,AL117190 14q(0) snorna 1602532 SNORD113-1 small nucleolar RNA, C/D box 113-1 12045206 767561 NR_003229,AL117190 14q(I-1) snorna 1602531 SNORD113-2 small nucleolar RNA, C/D box 113-2 12045206 767562 NR_003230,AL132709 14q(I-2) snorna 1602530 SNORD113-3 small nucleolar RNA, C/D box 113-3 12045206 767563 NR_003231,AL132709 14q(I-3) snorna 1602529 SNORD113-4 small nucleolar RNA, C/D box 113-4 12045206 767564 NR_003232,AL132709 14q(I-4) snorna 1602528 SNORD113-5 small nucleolar RNA, C/D box 113-5 12045206 767565 NR_003233,AL132709 14q(I-5) snorna 1602527 SNORD113-6 small nucleolar RNA, C/D box 113-6 12045206 767566 NR_003234,AL132709 14q(I-6) snorna 1602526 SNORD113-7 small nucleolar RNA, C/D box 113-7 12045206 767567 NR_003235,AL132709 14q(I-7) snorna 1602525 SNORD113-8 small nucleolar RNA, C/D box 113-8 12045206 767568 NR_003236,AL132709 14q(I-8) snorna 1602524 SNORD113-9 small nucleolar RNA, C/D box 113-9 12045206 767569 NR_003237,AL132709 14q(I-9) snorna 1602523 SNORD114-1 small nucleolar RNA, C/D box 114-1 12045206 767577 NR_003193,AL132709 14q(II-1) snorna 1602514 SNORD114-10 small nucleolar RNA, C/D box 114-10 12045206 767588 NR_003203,AL132709 14q(II-10) snorna 1602513 SNORD114-11 small nucleolar RNA, C/D box 114-11 12045206 767589 NR_003204,AL132709 14q(II-11) snorna 1602512 SNORD114-12 small nucleolar RNA, C/D box 114-12 12045206 767590 AL132709,NR_003205 14q(II-12) snorna 1602511 SNORD114-13 small nucleolar RNA, C/D box 114-13 12045206 767591 NR_003206,AL132709 14q(II-13) snorna 1602510 SNORD114-14 small nucleolar RNA, C/D box 114-14 12045206 767592 NR_003207,AL132709 14q(II-14) snorna 1602509 SNORD114-15 small nucleolar RNA, C/D box 114-15 12045206 767593 NR_003208,AL132709 14q(II-15) snorna 1602508 SNORD114-16 small nucleolar RNA, C/D box 114-16 12045206 767594 NR_003209,AL132709 14q(II-16) snorna 1602507 SNORD114-17 small nucleolar RNA, C/D box 114-17 12045206 767595 NR_003210,AL132709 14q(II-17) snorna 1602506 SNORD114-18 small nucleolar RNA, C/D box 114-18 12045206 767596 NR_003211,AL132709 14q(II-18) snorna 1602505 SNORD114-19 small nucleolar RNA, C/D box 114-19 12045206 767597 NR_003212,AL132709 14q(II-19) snorna 1602522 SNORD114-2 small nucleolar RNA, C/D box 114-2 12045206 767578 NR_003194,AL132709 14q(II-2) snorna 1602504 SNORD114-20 small nucleolar RNA, C/D box 114-20 12045206 767598 NR_003213,AL132709 14q(II-20) snorna 1602503 SNORD114-21 small nucleolar RNA, C/D box 114-21 12045206 767599 NR_003214,AL132709 14q(II-21) snorna 1602348 SNORD114-22 small nucleolar RNA, C/D box 114-22 12045206 767600 NR_003215,AL132709 14q(II-22) snorna 1602347 SNORD114-23 small nucleolar RNA, C/D box 114-23 12045206 767603 NR_003216,AL132709 14q(II-23) snorna 1602346 SNORD114-24 small nucleolar RNA, C/D box 114-24 12045206 767604 NR_003217,AL132709 14q(II-24) snorna 1602345 SNORD114-25 small nucleolar RNA, C/D box 114-25 12045206 767605 NR_003218,AL132709 14q(II-25) snorna 1602344 SNORD114-26 small nucleolar RNA, C/D box 114-26 12045206 767606 NR_003219,AL132709 14q(II-26) snorna 1602343 SNORD114-27 small nucleolar RNA, C/D box 114-27 12045206 767608 NR_003220,AL132709 14q(II-27) snorna 1602342 SNORD114-28 small nucleolar RNA, C/D box 114-28 12045206 767609 NR_003221,AL132709 14q(II-28) snorna 1602341 SNORD114-29 small nucleolar RNA, C/D box 114-29 12045206 767610 NR_003222,AL132709 14q(II-29) snorna 1602521 SNORD114-3 small nucleolar RNA, C/D box 114-3 12045206 767579 NR_003195,AL132709 14q(II-3) snorna 1602340 SNORD114-30 small nucleolar RNA, C/D box 114-30 12045206 767611 NR_003223,AL132709 14q(II-30) snorna 1602339 SNORD114-31 small nucleolar RNA, C/D box 114-31 12045206 767612 NR_003224,AL132709 14q(II-31) snorna 1602520 SNORD114-4 small nucleolar RNA, C/D box 114-4 12045206 767580 NR_003196,AL132709 Hs.651071 14q(II-4) snorna 1602519 SNORD114-5 small nucleolar RNA, C/D box 114-5 12045206 767581 NR_003197,AL132709 14q(II-5) snorna 1602518 SNORD114-6 small nucleolar RNA, C/D box 114-6 12045206 767582 NR_003198,AL132709 14q(II-6) snorna 1602517 SNORD114-7 small nucleolar RNA, C/D box 114-7 12045206 767583 NR_003199,AL132709 14q(II-7) snorna 1602516 SNORD114-8 small nucleolar RNA, C/D box 114-8 12045206 767584 NR_003200,AL132709 14q(II-8) snorna 1602515 SNORD114-9 small nucleolar RNA, C/D box 114-9 12045206 767585 NR_003201,AL132709 14q(II-9) snorna 1605814 SNORD115-1 small nucleolar RNA, C/D box 115-1 This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. 16357227,15939761,15565282,12045206,11726556,11106375 338433 NR_001291,NG_002690,AC124303,AF250841 HBII-52-1|RNHBII52 snorna 1604083 SNORD115-10 small nucleolar RNA, C/D box 115-10 16357227,15939761,15565282,12045206,11726556,11106375 100033447 NR_003302,NG_002690,AC124303,AF250841 HBII-52-10 snorna 1604082 SNORD115-11 small nucleolar RNA, C/D box 115-11 12045206,11726556,11106375,16357227,15939761,15565282 100033448 NR_003303,NG_002690,AC124303,AF250841 HBII-52-11 snorna 1604081 SNORD115-12 small nucleolar RNA, C/D box 115-12 16357227,15939761,15565282,12045206,11726556,11106375 100033449 NR_003304,NG_002690,AC124303,AF250841 HBII-52-12 snorna 1604080 SNORD115-13 small nucleolar RNA, C/D box 115-13 16357227,15939761,15565282,12045206,11726556,11106375 100033450 NR_003305,NG_002690,AC124303,AF250841 HBII-52-13 snorna 1604079 SNORD115-14 small nucleolar RNA, C/D box 115-14 16357227,15939761,15565282,12045206,11726556,11106375 100033451 NR_003306,NG_002690,AC124303,AF250841 HBII-52-14 snorna 1604078 SNORD115-15 small nucleolar RNA, C/D box 115-15 16357227,15939761,15565282,12045206,11726556,11106375 100033453 NR_003307,NG_002690,AC124303,AF250841 HBII-52-15 snorna 1604077 SNORD115-16 small nucleolar RNA, C/D box 115-16 16357227,15939761,15565282,12045206,11726556,11106375 100033454 NR_003308,NG_002690,AC124303,AF250841 HBII-52-16 snorna 1604076 SNORD115-17 small nucleolar RNA, C/D box 115-17 16357227,15939761,15565282,12045206,11726556,11106375 100033455 NR_003309,NG_002690,AC124303,AF250841 HBII-52-17 snorna 1604075 SNORD115-18 small nucleolar RNA, C/D box 115-18 16357227,15939761,15565282,12045206,11726556,11106375 100033456 NR_003310,NG_002690,AC124303,AF250841 HBII-52-18 snorna 1604074 SNORD115-19 small nucleolar RNA, C/D box 115-19 16357227,15939761,15565282,12045206,11726556,11106375 100033458 NR_003311,NG_002690,AC124303,AF250841 HBII-52-19 snorna 1604093 SNORD115-2 small nucleolar RNA, C/D box 115-2 16357227,15939761,15565282,12045206,11726556,11106375 100033437 NR_003294,NG_002690,AC124303,AF250841 HBII-52-2 snorna 1604073 SNORD115-20 small nucleolar RNA, C/D box 115-20 16357227,15939761,15565282,12045206,11726556,11106375 100033460 NR_003312,NG_002690,AC124303,AF250841 HBII-52-20 snorna 1603413 SNORD115-21 small nucleolar RNA, C/D box 115-21 16357227,15939761,15565282,12045206,11726556,11106375 100033603 NR_003313,NG_002690,AC124303,AF250841 HBII-52-21 snorna 1606846 SNORD115-22 small nucleolar RNA, C/D box 115-22 16357227,15939761,15565282,12045206,11726556,11106375 100033799 NR_003314,NG_002690,AC124303,AF250841 HBII-52-22 snorna 1606613 SNORD115-23 small nucleolar RNA, C/D box 115-23 16357227,15939761,15565282,12045206,11726556,11106375 100033800 NR_003315,NG_002690,AC124303,AF250841 HBII-52-23 snorna 1606612 SNORD115-25 small nucleolar RNA, C/D box 115-25 16357227,15939761,15565282,12045206,11726556,11106375 100033801 NR_003342,NG_002690,AC124303,AF250841 HBII-52-25 snorna 1606611 SNORD115-26 small nucleolar RNA, C/D box 115-26 16357227,15939761,15565282,12045206,11726556,11106375 100033802 NR_003343,NG_002690,AC124303,AF250841 HBII-52-26 snorna 1606610 SNORD115-29 small nucleolar RNA, C/D box 115-29 16357227,15939761,15565282,12045206,11726556,11106375 100033803 NR_003344,NG_002690,AC124303,AF250841 HBII-52-29 snorna 1604090 SNORD115-3 small nucleolar RNA, C/D box 115-3 16357227,15939761,15565282,12045206,11726556,11106375 100033440 NR_003295,NG_002690,AC124303,AF250841 HBII-52-3 snorna 1606609 SNORD115-30 small nucleolar RNA, C/D box 115-30 16357227,15939761,15565282,12045206,11726556,11106375 100033804 NR_003345,NG_002690,AC124303,AF250841 HBII-52-30 snorna 1606608 SNORD115-31 small nucleolar RNA, C/D box 115-31 16357227,15939761,15565282,12045206,11726556,11106375 100033805 NR_003346,NG_002690,AC124303,AF250841 HBII-52-31 snorna 1606607 SNORD115-32 small nucleolar RNA, C/D box 115-32 12045206,16357227,15939761,15565282,11726556,11106375 100033806 NR_003347,NG_002690,AC124303,AF250841 HBII-52-32 snorna 1606606 SNORD115-33 small nucleolar RNA, C/D box 115-33 16357227,15939761,15565282,12045206,11726556,11106375 100033807 NR_003348,NG_002690,AC124303,AF250841 HBII-52-33 snorna 1606605 SNORD115-34 small nucleolar RNA, C/D box 115-34 16357227,15939761,15565282,12045206,11726556,11106375 100033808 NR_003349,NG_002690,AC124303,AF250841 HBII-52-34 snorna 1606604 SNORD115-35 small nucleolar RNA, C/D box 115-35 15565282,12045206,11726556,11106375,16357227,15939761 100033809 NR_003350,NG_002690,AC124303,AF250841 HBII-52-35 snorna 1606603 SNORD115-36 small nucleolar RNA, C/D box 115-36 16357227,15939761,15565282,12045206,11726556,11106375 100033810 NR_003351,NG_002690,AC124303,AF250841 HBII-52-36 snorna 1606602 SNORD115-37 small nucleolar RNA, C/D box 115-37 16357227,15939761,15565282,12045206,11726556,11106375 100033811 NR_003352,NG_002690,AC124303,AF250841 HBII-52-37 snorna 1606601 SNORD115-38 small nucleolar RNA, C/D box 115-38 12045206,11726556,11106375,16357227,15939761,15565282 100033812 NR_003353,NG_002690,AC124303,AF250841 HBII-52-38 snorna 1606600 SNORD115-39 small nucleolar RNA, C/D box 115-39 16357227,15939761,15565282,12045206,11726556,11106375 100033813 NR_003354,NG_002690,AC124303,AF250841 HBII-52-39 snorna 1604089 SNORD115-4 small nucleolar RNA, C/D box 115-4 16357227,15939761,15565282,12045206,11726556,11106375 100033441 NR_003296,NG_002690,AC124303,AF250841 HBII-52-4 snorna 1606599 SNORD115-40 small nucleolar RNA, C/D box 115-40 16357227,15939761,15565282,12045206,11726556,11106375 100033814 NR_003355,NG_002690,AC124303,AF250841 HBII-52-40 snorna 1606598 SNORD115-41 small nucleolar RNA, C/D box 115-41 16357227,15939761,15565282,12045206,11726556,11106375 100033815 NR_003356,NG_002690,AC124303,AF250841 HBII-52-41 snorna 1606597 SNORD115-42 small nucleolar RNA, C/D box 115-42 11106375,16357227,15939761,15565282,12045206,11726556 100033816 NR_003357,NG_002690,AC124303,AF250841 HBII-52-42 snorna 1606596 SNORD115-43 small nucleolar RNA, C/D box 115-43 16357227,15939761,15565282,12045206,11726556,11106375 100033817 NR_003358,NG_002690,AC124303,AF250841 HBII-52-43 snorna 1606595 SNORD115-44 small nucleolar RNA, C/D box 115-44 16357227,15939761,15565282,12045206,11726556,11106375 100033818 NR_003359,NG_002690,AC124303,AF250841 HBII-52-44 snorna 1606592 SNORD115-48 small nucleolar RNA, C/D box 115-48 12045206,11726556,11106375,16357227,15939761,15565282 100033822 NR_003362,NG_002690,AC100774,AF250841 HBII-52-48 snorna 1604088 SNORD115-5 small nucleolar RNA, C/D box 115-5 16357227,15939761,15565282,12045206,11726556,11106375 100033442 NR_003297,NG_002690,AC124303,AF250841 HBII-52-5 snorna 1604087 SNORD115-6 small nucleolar RNA, C/D box 115-6 16357227,15939761,15565282,12045206,11726556,11106375 100033443 NR_003298,NG_002690,AC124303,AF250841 HBII-52-6 snorna 1604086 SNORD115-7 small nucleolar RNA, C/D box 115-7 16357227,15939761,15565282,12045206,11726556,11106375 100033444 NR_003299,NG_002690,AC124303,AF250841 HBII-52-7 snorna 1604085 SNORD115-8 small nucleolar RNA, C/D box 115-8 16357227,15939761,15565282,12045206,11726556,11106375 100033445 NR_003300,NG_002690,AC124303,AF250841 HBII-52-8 snorna 1604084 SNORD115-9 small nucleolar RNA, C/D box 115-9 16357227,15939761,15565282,12045206,11726556,11106375 100033446 NR_003301,NG_002690,AC124303,AF250841 HBII-52-9 snorna 1604117 SNORD116-1 small nucleolar RNA, C/D box 116-1 11726556,11106375 100033413 NR_003316,NG_002690,AC124312 HBII-85-1 snorna 1604108 SNORD116-10 small nucleolar RNA, C/D box 116-10 11726556,11106375 100033422 NR_003325,NG_002690,AC124312 HBII-85-10 snorna 1604107 SNORD116-11 small nucleolar RNA, C/D box 116-11 11726556,11106375 100033423 NR_003326,NG_002690,AC124312 HBII-85-11 snorna 1604106 SNORD116-12 small nucleolar RNA, C/D box 116-12 11726556,11106375 100033424 NR_003327,NG_002690,AC124312 HBII-85-12 snorna 1604105 SNORD116-13 small nucleolar RNA, C/D box 116-13 11726556,11106375 100033425 NR_003328,NG_002690,AC124312 HBII-85-13 snorna 1604104 SNORD116-14 small nucleolar RNA, C/D box 116-14 11726556,11106375 100033426 NR_003329,NG_002690,AC124312 HBII-85-14 snorna 1604103 SNORD116-15 small nucleolar RNA, C/D box 116-15 11726556,11106375 100033427 NR_003330,NG_002690,AC124312 HBII-85-15 snorna 1604102 SNORD116-16 small nucleolar RNA, C/D box 116-16 11726556,11106375 100033428 NR_003331,NG_002690,AC124312 HBII-85-16 snorna 1604101 SNORD116-17 small nucleolar RNA, C/D box 116-17 11726556,11106375 100033429 NR_003332,NG_002690,AC124312 HBII-85-17 snorna 1604100 SNORD116-18 small nucleolar RNA, C/D box 116-18 11726556,11106375 100033430 NR_003333,NG_002690,AC124312 HBII-85-18 snorna 1604119 SNORD116-19 small nucleolar RNA, C/D box 116-19 11726556,11106375 727708 NR_001290,XR_042163,XR_042139,NG_002690,AC124312,AF250841 HBII-85-19 snorna 1604116 SNORD116-2 small nucleolar RNA, C/D box 116-2 11726556,11106375 100033414 NR_003317,NG_002690,AC124312 HBII-85-2 snorna 1604099 SNORD116-20 small nucleolar RNA, C/D box 116-20 11726556,11106375 100033431 NR_003334,NG_002690,AC124312 HBII-85-20 snorna 1604098 SNORD116-21 small nucleolar RNA, C/D box 116-21 11726556,11106375 100033432 NR_003335,NG_002690,AC124312 HBII-85-21 snorna 1604097 SNORD116-22 small nucleolar RNA, C/D box 116-22 11726556,11106375 100033433 NR_003336,NG_002690,AC124312 HBII-85-22 snorna 1604096 SNORD116-23 small nucleolar RNA, C/D box 116-23 11726556,11106375 100033434 NR_003337,NG_002690,AC124312 HBII-85-23 snorna 1604095 SNORD116-24 small nucleolar RNA, C/D box 116-24 11726556,11106375 100033435 NR_003338,NG_002690,AC124312 HBII-85-24 snorna 1604094 SNORD116-25 small nucleolar RNA, C/D box 116-25 11726556,11106375 100033436 NR_003339,NG_002690,AC124312 HBII-85-25 snorna 1604092 SNORD116-26 small nucleolar RNA, C/D box 116-26 11726556,11106375 100033438 NR_003340,NG_002690,AC124312 HBII-85-26 snorna 1604091 SNORD116-27 small nucleolar RNA, C/D box 116-27 11726556,11106375 100033439 NR_003341,NG_002690,AC124312,AF250841 HBII-85-27 snorna 1606594 SNORD116-28 small nucleolar RNA, C/D box 116-28 11726556,11106375 100033820 NR_003361,NG_002690,AC124312,AF250841 HBII-85-28 snorna 1606593 SNORD116-29 small nucleolar RNA, C/D box 116-29 11726556,11106375 100033821 NR_003360,NG_002690,AC124303,AF250841 HBII-85-29 snorna 1604115 SNORD116-3 small nucleolar RNA, C/D box 116-3 11726556,11106375 100033415 NR_003318,NG_002690,AC124312 HBII-85-3 snorna 1604114 SNORD116-4 small nucleolar RNA, C/D box 116-4 11726556,11106375 100033416 NR_003319,NG_002690,AC124312 HBII-85-4 snorna 1604113 SNORD116-5 small nucleolar RNA, C/D box 116-5 11726556,11106375 100033417 NR_003320,NG_002690,AC124312 HBII-85-5 snorna 1604112 SNORD116-6 small nucleolar RNA, C/D box 116-6 11726556,11106375 100033418 NR_003321,NG_002690,AC124312 HBII-85-6 snorna 1604111 SNORD116-7 small nucleolar RNA, C/D box 116-7 11726556,11106375 100033419 NR_003322,NG_002690,AC124312 HBII-85-7 snorna 1604110 SNORD116-8 small nucleolar RNA, C/D box 116-8 11726556,11106375 100033420 NR_003323,NG_002690,AC124312 HBII-85-8 snorna 1604109 SNORD116-9 small nucleolar RNA, C/D box 116-9 11726556,11106375 100033421 NR_003324,NG_002690,AC124312 HBII-85-9 snorna 1602350 SNORD117 small nucleolar RNA, C/D box 117 10684929 692233 NR_003140,AL662801,AL662847,BX001040,AJ243200 U83 snorna 1626535 SNORD119 small nucleolar RNA, C/D box 119 100113378 NR_003684,AL049650,AM413030 snorna 1626523 SNORD11B small nucleolar RNA, C/D box 11B 100113392 NR_003694,AC064836,AM413022 Hs.693442 snorna 1602749 SNORD12 small nucleolar RNA, C/D box 12 11387227 692057 NR_003030,AL049766 HBII-99 snorna 1626534 SNORD121A small nucleolar RNA, C/D box 121A 100113379 NR_003685,AL139113,AM413031 snorna 1626528 SNORD121B small nucleolar RNA, C/D box 121B 100113385 NR_003690,AL139113,AM413032 snorna 1626529 SNORD123 small nucleolar RNA, C/D box 123 100113384 NR_003689,AC034214,AM413035 snorna 1626525 SNORD124 small nucleolar RNA, C/D box 124 100113390 NR_003692,AC102799,AM413036 Hs.462983 snorna 1626533 SNORD125 small nucleolar RNA, C/D box 125 100113380 NR_003686,AC002059,AM413037 snorna 1626524 SNORD126 small nucleolar RNA, C/D box 126 100113391 NR_003693,AL355075,AM413038 snorna 1626526 SNORD127 small nucleolar RNA, C/D box 127 100113389 NR_003691,AL121809,AM413025 Hs.274337 snorna 1626522 SNORD12B small nucleolar RNA, C/D box 12B 100113393 NR_003695,AM413026 Hs.356766 snorna 1602330 SNORD12C small nucleolar RNA, C/D box 12C 14602913,8415643 26765 AY349607 GDB:10795841 E2|E2-1|E3|RNU106|SNORD106|U106 snorna 1602742 SNORD13 small nucleolar RNA, C/D box 13 8973634,8721999,2531075,2247610 692084 NR_003041,AC091144 U13 snorna 1354215 SNORD14A small nucleolar RNA, C/D box 14A 8920921 26822 NR_000022,AC116533,D88010 GDB:10795763 RNU14|RNU14A|U14|U14-S13-5 snorna 1351969 SNORD14B small nucleolar RNA, C/D box 14B 8920921 85388 NR_001452,AC116533,D88010 RNU14B|U14|U14B snorna 1343552 SNORD15A small nucleolar RNA, C/D box 15A 8319909,7789996 6079 NR_000005,AP000744,L16016,L15616 Hs.689081 GDB:363817 RNU15A|SNORNA|U15A snorna 1352212 SNORD15B small nucleolar RNA, C/D box 15B 11943484,8319909,7789996 114599 NR_000025,AF281313,AP000744,L15557 Hs.689080 GDB:11507612 RNU15B|U15B snorna 1602022 SNORD16 small nucleolar RNA, C/D box 16 11875025,8674114,8335006 595097 NR_002440,AB061820,AC116913 Hs.709079 U16 snorna 1602740 SNORD17 small nucleolar RNA, C/D box 17 11387227 692086 NR_003045,AL121585 Hs.680747 HBI-43 snorna 1602021 SNORD18A small nucleolar RNA, C/D box 18A 11875025,8674114,7507233 595098 NR_002441,AB061820,AC116913 U18A snorna 1602020 SNORD18B small nucleolar RNA, C/D box 18B 11875025,8674114,7507233 595099 NR_002442,AB061820,AC116913 U18B snorna 1601897 SNORD18C small nucleolar RNA, C/D box 18C 11875025,8674114,7507233 595100 NR_002443,AB061820,AC116913 U18C snorna 1602737 SNORD19 small nucleolar RNA, C/D box 19 11387227 692089 NR_003047,AC104446 HBII-108 snorna 1626532 SNORD19B small nucleolar RNA, C/D box 19B 100113381 NR_003687,AC104446,AM413023 snorna 1602549 SNORD1A small nucleolar RNA, C/D box 1A 14960365 677848 NR_004395,AJ543324 R38A|snR38A snorna 1602548 SNORD1B small nucleolar RNA, C/D box 1B 14960365 677849 NR_004396,AJ543325 R38B|snR38B snorna 1602547 SNORD1C small nucleolar RNA, C/D box 1C 14960365 677850 NR_004397,AJ543326 R38C|snR38C snorna 1602241 SNORD2 small nucleolar RNA, C/D box 2 14960365 619567 NR_002587,AC112907 R39B|SNR39B snorna 1351179 SNORD20 small nucleolar RNA, C/D box 20 8065311,2394707 6082 NR_002908,AC017104,Z34290 GDB:386415 RNU20|U20 snorna 1352254 SNORD21 small nucleolar RNA, C/D box 21 7937132 6083 NR_000006,AL162740,Z35312 GDB:434456 RNU21|U21 snorna 1344519 SNORD22 small nucleolar RNA, C/D box 22 9387929,8559254,7985025 9304 NR_000008,AP001160,L36588,U40580 Hs.707864 GDB:9955970 RNU22|U22 snorna 1602735 SNORD23 small nucleolar RNA, C/D box 23 11387227 692091 NR_003048,AC008745 Hs.421907 HBII-115 snorna 1349393 SNORD24 small nucleolar RNA, C/D box 24 9703018,8674114,8482538,7651828 26820 NG_000837,NR_002447,AL158826,Z48765,Z48764 GDB:10795768 RNU24|U24 snorna 1346154 SNORD25 small nucleolar RNA, C/D box 25 9387929,8559254 9303 NR_002565,AF081279,AP001160,U40580 GDB:9955968 RNU25|U25 snorna 1348733 SNORD26 small nucleolar RNA, C/D box 26 9387929,8559254 9302 NR_002564,AP001160,U40580 GDB:9955966 RNU26|U26 snorna 1352918 SNORD27 small nucleolar RNA, C/D box 27 9387929,8559254 9301 NR_002563,AP001160,U40580 GDB:9955964 RNU27|U27 snorna 1343428 SNORD28 small nucleolar RNA, C/D box 28 9387929,8559254 9300 NR_002562,AP001160,U40580 GDB:9955962 RNU28|U28 snorna 1346054 SNORD29 small nucleolar RNA, C/D box 29 9387929,8559254 9297 NR_002559,AP001160,U40580 GDB:9955656 RNU29|U29 snorna 1349433 SNORD30 small nucleolar RNA, C/D box 30 9387929,8559254 9299 U40580,NR_002561,AP001160 GDB:9955661 RNU30|U30 snorna 1350784 SNORD31 small nucleolar RNA, C/D box 31 9387929,8559254 9298 NR_002560,AP001160,U40580 GDB:9955658 RNU31|U31 snorna 1342801 SNORD32A small nucleolar RNA, C/D box 32A 10580157,8764399 26819 AC010619,X94598,NR_000021,AB028893 GDB:10795770 RNU32|U32|U32A snorna 1602734 SNORD32B small nucleolar RNA, C/D box 32B 8764399 692092 NR_003049,AL645936,AL662826,BX000688 U32B snorna 1348219 SNORD33 small nucleolar RNA, C/D box 33 10580157,8764399 26818 NR_000020,AB028893,AC010619,X94599 GDB:10795772 RNU33|U33 snorna 1350805 SNORD34 small nucleolar RNA, C/D box 34 10580157,8764399 26817 NR_000019,AB028893,AC010619,X94600 GDB:10795774 RNU34|U34 snorna 1353609 SNORD35A small nucleolar RNA, C/D box 35A 10580157,8764399 26816 X94601,NR_000018,AB028893,AC010619 GDB:10795776 RNU35|RNU35A|U35 snorna 1346245 SNORD35B small nucleolar RNA, C/D box 35B 10580157 84546 NR_001285,AB028893,AC010619 RNU35B|U35B snorna 1352325 SNORD36A small nucleolar RNA, C/D box 36A 9703018,8764399 26815 AJ003040,X97584,NG_000837,NR_002448 GDB:10795777 RNU36A|U36a snorna 1350667 SNORD36B small nucleolar RNA, C/D box 36B 8764399,9703018 26814 NG_000837,NR_000017,AJ003039 GDB:10795779 RNU36B|U36b snorna 1347255 SNORD36C small nucleolar RNA, C/D box 36C 9703018,8764399 26813 NG_000837,NR_000016,AJ003041,X97587 GDB:10795781 RNU36C|U36c snorna 1352874 SNORD37 small nucleolar RNA, C/D box 37 8764399 26812 NR_002602,AC011488,X94602 GDB:10795783 RNU37|U37 snorna 1342819 SNORD38A small nucleolar RNA, C/D box 38A 8764399 94162 NR_001456,AL592166,X67247 RNU38A|U38A snorna 1346070 SNORD38B small nucleolar RNA, C/D box 38B 8764399 94163 NR_001457,AL592166,X67247 RNU38B|U38B snorna 2289763 SNORD3A small nucleolar RNA, C/D box 3A 9365252 780851 NR_006880,AC106017 U3 snorna 1351412 SNORD3B-1 small nucleolar RNA, C/D box 3B-1 9365252 26851 NR_003271,AC007952,AF020532,AF020533,AF020534 GDB:10795727 RNU3A1|U3a|U3b1|U3b2 snorna 1642510 SNORD3B-2 small nucleolar RNA, C/D box 3B-2 9365252 780852 NR_003924,AC007952,AF020535,AF020536 U3-2B|U3b2 snorna 2289762 SNORD3C small nucleolar RNA, C/D box 3C 9365252 780853 NR_006881,AC106017 U3-3 snorna 2289761 SNORD3D small nucleolar RNA, C/D box 3D 9365252 780854 NR_006882,AC007952 U3-4 snorna 1344851 SNORD41 small nucleolar RNA, C/D box 41 8674114 26810 NR_002751,AC018761,X96640 GDB:10795786 RNU41|U41 snrna 1354029 SNORD42A small nucleolar RNA, C/D box 42A 9417910,8674114 26809 NR_000014,AC010761,AF001689,X96641 GDB:10795787 RNU42A|U42|U42A snrna 1351888 SNORD42B small nucleolar RNA, C/D box 42B 9417910 26808 NR_000013,AC010761,AF001689,AJ224023 GDB:10795788 RNU42B|U42B snorna 1346020 SNORD43 small nucleolar RNA, C/D box 43 Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968,8674114 26807 NR_002439,AJ238853,AL022326,X96642 GDB:10795790 RNU43|U43 snrna 1348712 SNORD44 small nucleolar RNA, C/D box 44 8674114 26806 NR_002750,AL136170,X96643 GDB:10795791 RNU44|U44 snrna 1342927 SNORD45A small nucleolar RNA, C/D box 45A 8674114 26805 NR_002749,AL357314,X96644 GDB:10795792 RNU45A|U45a snrna 1351466 SNORD45B small nucleolar RNA, C/D box 45B 8674114 26804 NR_002748,AL357314,X96645 GDB:10795793 RNU45B|U45b snrna 1602741 SNORD45C small nucleolar RNA, C/D box 45C 8674114 692085 NR_003042,AL357314 U45C snorna 1346025 SNORD46 small nucleolar RNA, C/D box 46 8764399,8674114 94161 NR_000024,AL592166,X67247,Z69628,X96646 GDB:10795794 RNU40|RNU46|U40|U46 snorna 1350035 SNORD47 small nucleolar RNA, C/D box 47 8674114 26802 NR_002746,AL136170,X96647 GDB:10795796 RNU47|U47 snrna 1352935 SNORD48 small nucleolar RNA, C/D box 48 8674114 26801 NR_002745,AL662834,AL671762,AL929592,X96648 GDB:10795797 RNU48|U48 snrna 1353404 SNORD49A small nucleolar RNA, C/D box 49A 8674114 26800 NR_002744,AC093484,X96649 GDB:10795798 RNU49|U49|U49A snrna 1602739 SNORD49B small nucleolar RNA, C/D box 49B 8674114 692087 NR_003043,AC093484 U49B snorna 1345375 SNORD4A small nucleolar RNA, C/D box 4A 9417910 26773 NR_000010,AC010761,AF001689,AJ224024 GDB:10795831 RNU101A|Z17A|mgh18S-121 snorna 1346958 SNORD4B small nucleolar RNA, C/D box 4B 9417910 26772 NR_000009,AC010761,AF001689,AJ224025 GDB:10795833 RNU101B|Z17B snorna 1602746 SNORD5 small nucleolar RNA, C/D box 5 15199136 692072 NR_003033,AP001273,AJ609488 mgh28S-2410 snorna 1345508 SNORD50A small nucleolar RNA, C/D box 50A 10792466,8674114 26799 NR_002743,AB017710,AL355615,X96662 GDB:10795799 RNU50|U50 snorna 1602738 SNORD50B small nucleolar RNA, C/D box 50B 10792466 692088 NR_003044,AB017710,AL355615 U50'|U50B snorna 1347366 SNORD51 small nucleolar RNA, C/D box 51 8674114 26798 NR_002589,AC007383,X96650 GDB:10795800 RNU51|U51 snrna 1344796 SNORD52 small nucleolar RNA, C/D box 52 8674114 26797 NR_002742,AL662834,AL671762,AL929592,X96651 GDB:10795801 RNU52|U52 snrna 1346681 SNORD53 small nucleolar RNA, C/D box 53 8674114 26796 NR_002741,AC097720,X96652 GDB:10795802 RNU53|U53 snrna 1344613 SNORD54 small nucleolar RNA, C/D box 54 8674114 26795 NR_002437,AC107376,X96653 GDB:10795803 RNU54|U54 snrna 1351914 SNORD55 small nucleolar RNA, C/D box 55 8764399,8674114 26811 NR_000015,AL592166,X67247,Z69626,X96654 GDB:10795784,GDB:10795804 RNU39|RNU55|SNORD39|U39|U55 snorna 1349350 SNORD56 small nucleolar RNA, C/D box 56 8674114 26793 NR_002739,AL049712,X96655 GDB:10795806 RNU56|U56 snrna 1345062 SNORD56B small nucleolar RNA, C/D box 56B 319139 AC005994,NR_001276 RNU56B snrna 1345494 SNORD57 small nucleolar RNA, C/D box 57 8674114 26792 AL049712,X96656,NR_002738 GDB:10795807 RNU57|U57 snrna 1354480 SNORD58A small nucleolar RNA, C/D box 58A 8674114 26791 AB061824,AC100778,X96657,NR_002571 GDB:10795808 RNU58A|U58a snrna 1345763 SNORD58B small nucleolar RNA, C/D box 58B 8674114 26790 NR_002572,AB061824,X96658 GDB:10795809 RNU58B|U58b snrna 1642109 SNORD58C small nucleolar RNA, C/D box 58C 100124516 NR_003701,AM413028 snorna 1345043 SNORD59A small nucleolar RNA, C/D box 59A 8674114 26789 NR_002737,AC090681,X96659 GDB:10795810 RNU59|U59 snrna 1602736 SNORD59B small nucleolar RNA, C/D box 59B 8674114 692090 NR_003046,AC090681 U59B snorna 1602744 SNORD6 small nucleolar RNA, C/D box 6 15199136 692075 NR_003036,AP001273,AJ609489 mgh28S-2412 snorna 1344326 SNORD60 small nucleolar RNA, C/D box 60 8674114 26788 NR_002736,AC009065,X96660 GDB:10795812 RNU60|U60 snrna 1354078 SNORD61 small nucleolar RNA, C/D box 61 11387227,8674114 26787 NR_002735,AL683813,X96661 GDB:10795813 HBII-342|RNU61|U61 snrna 1351384 SNORD62A small nucleolar RNA, C/D box 62A 8962077 26786 NR_002914,AL358781,U72851 GDB:10795814 RNU62|U62|U62A snorna 1602733 SNORD62B small nucleolar RNA, C/D box 62B 8962077 692093 NR_003050,AL358781 U62|U62B snorna 1348341 SNORD63 small nucleolar RNA, C/D box 63 8962077 26785 U72852,AC011385,NR_002913 GDB:10795815 RNU63|U63 snorna 1605532 SNORD64 small nucleolar RNA, C/D box 64 11106375 347686 NR_001294,NG_002690,AC124312 HBII-13 snorna 1602544 SNORD65 small nucleolar RNA, C/D box 65 11387227 692106 NR_003054,AC093484 HBII-135 snorna 1602543 SNORD66 small nucleolar RNA, C/D box 66 11387227 692107 NR_003055,AC078797 HBII-142 snorna 1602542 SNORD67 small nucleolar RNA, C/D box 67 11387227 692108 NR_003056,AC115088 Hs.693252 HBII-166 snorna 1602248 SNORD68 small nucleolar RNA, C/D box 68 11387227,2247610 606500 NR_002450,AC092123 HBII-202 snorna 1602541 SNORD69 small nucleolar RNA, C/D box 69 11387227 692109 NR_003057,AC104446 HBII-210 snorna 1602743 SNORD7 small nucleolar RNA, C/D box 7 11842100 692076 NR_003037,AC015911,AJ007733 Z30|mgU6-47 snorna 1602540 SNORD70 small nucleolar RNA, C/D box 70 11387227 692110 NR_003058,AC064836 HBII-234 snorna 1602539 SNORD71 small nucleolar RNA, C/D box 71 11387227 692111 NR_003059,AC010653 HBII-239|MIRN768|hsa-mir-768 snorna 1602243 SNORD72 small nucleolar RNA, C/D box 72 11387227 619564 NR_002583,AB061834 HBII-240 snorna 1347544 SNORD73A small nucleolar RNA, C/D box 73A 9573378 8944 NR_000007,AC095055,X87373,Z83330,Z83334 GDB:11507618 RNU73|RNU73A|U73|U73a snorna 1345267 SNORD73B small nucleolar RNA, C/D box U73B pseudogene 9573378,8647443 114655 NG_000961,AC095055,X87373,Z83334 RNU73B|U73B rna, u73b small nucleolar pseudogene pseudo 1602378 SNORD74 small nucleolar RNA, C/D box 74 15556860,9819378 619498 NR_002579,AF141346,AJ224026 U74|Z18 snorna 2291784 SNORD75 small nucleolar RNA, C/D box 75 15556860,9819378 692195 NR_003941,AF141346,AL136170 U75 snorna 2291783 SNORD76 small nucleolar RNA, C/D box 76 15556860,9819378 692196 NR_003942,AF141346,AL136170 U76 snorna 2291782 SNORD77 small nucleolar RNA, C/D box 77 15556860,9819378 692197 NR_003943,AF141346,AL136170 U77 snorna 2291781 SNORD78 small nucleolar RNA, C/D box 78 15556860,9819378 692198 NR_003944,AF141346,AL136170 U78 snorna 1346705 SNORD79 small nucleolar RNA, C/D box 79 9819378,15556860 26770 AJ224027 GDB:10795836 RNU103|U79|Z22 snorna 1348850 SNORD8 small nucleolar RNA, C/D box 8 10490628 319103 NR_002916,AL161747,AJ243222 Hs.680078 RNU6C|mgU6-53 snorna 1353378 SNORD80 small nucleolar RNA, C/D box 80 15556860,9819378 26774 AJ224022 GDB:10795830 RNU100|U80|Z15 snorna 1348775 SNORD81 small nucleolar RNA, C/D box 81 15556860,9819378 26769 AJ224028 GDB:10795837 RNU104|U81|Z23 snorna 1352574 SNORD82 small nucleolar RNA, C/D box 82 The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM] 10684968,10524220,2394707 25826 NR_004398,AJ010666 GDB:10795828 RNU82|U82|Z25 snrna 1352386 SNORD83A small nucleolar RNA, C/D box 83A Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968 116937 NR_000027,AJ238852,AL022326 GDB:11507620 RNU83A|U83A snorna 1349705 SNORD83B small nucleolar RNA, C/D box 83B Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM] 10684968 116938 NR_000028,AJ238852,AL022326 GDB:11507622 RNU83B|U83B snorna 1602533 SNORD84 small nucleolar RNA, C/D box 84 10684929 692199 NR_003065,AL662801,AL662847,BX001040,AJ243199 U84 snorna 1602372 SNORD85 small nucleolar RNA, C/D box 85 11387227 692200 NR_003066,AL445235 HBII-251 snorna 1602371 SNORD86 small nucleolar RNA, C/D box 86 11594746 692201 NR_004399,AJ311853 U86 snorna 1602235 SNORD87 small nucleolar RNA, C/D box 87 16226852,12119114,11387227 641648 NR_002598,AC011031 HBII-276|U87 snorna 1602370 SNORD88A small nucleolar RNA, C/D box 88A 11387227 692202 NR_003067,AC010325 HBII-180A snorna 1602369 SNORD88B small nucleolar RNA, C/D box 88B 11387227 692203 NR_003068,AC010325 HBII-180B snorna 1602368 SNORD88C small nucleolar RNA, C/D box 88C 11387227 692204 NR_003069,AC010325 HBII-180C snorna 1602367 SNORD89 small nucleolar RNA, C/D box 89 11387227 692205 NR_003070,AC013722 Hs.656503 HBII-289 snorna 1602750 SNORD9 small nucleolar RNA, C/D box 9 10490628 692053 NR_003029,AL135744,AL161747 Hs.675950 mgU6-53B snorna 1602366 SNORD90 small nucleolar RNA, C/D box 90 11387227 692206 NR_003071,AC007066 Hs.693253 HBII-295 snorna 1602365 SNORD91A small nucleolar RNA, C/D box 91A 11387227 692207 NR_003072,AL450226 HBII-296a snorna 1602364 SNORD91B small nucleolar RNA, C/D box 91B 11387227 692208 NR_003073,AL450226 HBII-296b snorna 1602363 SNORD92 small nucleolar RNA, C/D box 92 11387227 692209 NR_003074,AC097720 HBII-316 snorna 1602362 SNORD93 small nucleolar RNA, C/D box 93 11387227 692210 NR_003075,AC005682,CH236948 HBII-336 snorna 1602354 SNORD94 small nucleolar RNA, C/D box 94 14602913 692225 NR_004378,AY349593 Hs.323489 U94 snorna 1602238 SNORD95 small nucleolar RNA, C/D box 95 14602913 619570 NR_002591,AY349594 U95 snorna 1602237 SNORD96A small nucleolar RNA, C/D box 96A 14602913 619571 NR_002592,AY349595 U96A snorna 1602353 SNORD96B small nucleolar RNA, C/D box 96B 14602913 692226 NR_004379,AY349596 U96b snorna 1602356 SNORD97 small nucleolar RNA, C/D box 97 14602913 692223 NR_004403,AY349597 Hs.183684 U97 snorna 1602361 SNORD98 small nucleolar RNA, C/D box 98 11387227 692211 NR_003076,AL513534 HBII-419 snorna 1602360 SNORD99 small nucleolar RNA, C/D box 99 11387227 692212 NR_003077,AL513497 HBII-420 snorna 1314155 SNPH syntaphilin Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. 1580863 10707983,12896979,12477932,11780052,9205841 9751 AL136531,CH471133,NM_014723,AB002372,AF187733,BC035788,CR597443 CAC16177,CAI95140,NP_055538,EAX10641,EAX10642,EAX10643,EAX10644,EAX10645,BAA20829,AAF29901,AAH35788,O15079,Q8IYI3 Hs.323833 GDB:11507901 KIAA0374|MGC46096|bA314N13.5 protein-coding 735399 SNRK SNF related kinase 12234663,17353931,16344560,15733851,15489334,15342556,14702039,12477932,12168954,12087103,10930554,10878360,8654423,7788527 54861 NM_017719,NM_001100594,AC104184,AC104434,CH471055,AK000231,AK025449,AK026013,AK291360,BC071567,BP281284,CR749621,D43636,DA769463,DB080037,U57452 AAB02237,Q13612,Q9NRH2,NP_060189,NP_001094064,EAW64693,EAW64694,BAA91023,BAF84049,AAH71567,CAH18415,BAA07744 Hs.476052 DKFZp779A1866|FLJ20224|HSNFRK|KIAA0096 protein-coding 1316126 SNRP70 small nuclear ribonucleoprotein 70kDa polypeptide (RNP antigen) 1580863 9685421,9281376,9016565,8889548,8816452,8746626,8332490,8261509,7516470,3028775,2477447,2447561,2147422,1833625,17353931,2467746,9447963,14561889,12226669,9531537,17622584,17081983,16964243,15489334,15231748,15146197,15144186,14765198,14702039,14688384,12560496,12548559,12477932,12456665,12417631,12218166,12193588,12115232,11780068,11748230,11741604,11514619,11500380,11448987,10725331,10339552,9826776,9799243,9731529 6625 CR592978,CR593135,CR595497,CR596341,CR597473,CR597769,CR599254,CR599480,CR600727,CR608261,CR608610,CR611310,CR611785,CR612805,CR613069,CR616069,CR616073,CR617222,CR623618,CR624326,CR624970,CR626532,M22636,X04654,X06811,X06812,X06814,X06815,X06816,AC008687,NM_003089,CH471177,M57935,M57939,AK027127,AK056808,AK096783,AK293120,AL117399,AL117507,AL832819,BC000342,BC001315,BE397125,BM969999,CN292681,X07401,X06817,X07402,X07403,X84841 AAA03001,CAA28352,CAA29960,CAA29961,CAA29963,CAA29964,CAA29965,NP_003080,EAW52445,EAW52446,EAW52447,EAW52448,EAW52449,EAW52450,EAW52451,EAW52452,EAW52453,AAA36571,AAA36572,AAA36573,BAF85809,CAB55900,CAB55969,AAH00342,AAH01315,CAA29966,CAA30303,CAA30304,CAA30305,CAA59278,P08621,Q9UFS1 Hs.467097 GDB:120726 RNPU1Z|RPU1|U170K|U1AP|U1RNP protein-coding 1316600 SNRPA small nuclear ribonucleoprotein polypeptide A 1580863 9848648,17353931,12226669,9731529,17942741,17507659,16189514,15890361,15635413,15489334,15231748,12477932,11101529,10742179,10688667,10648562,9312034,9265619,8609632,8602269,8070414,7984237,2962859,2147232,1833186,1831431,1826055,1701111,11420046,9783582 6626 NM_004596,AC020945,CH471126,M60784,BC000405,BC008290,CR591403,CR593045,CR595370,CR597345,CR597355,CR597793,CR602490,CR604415,CR606390,CR606659,CR607723,CR609533,CR611065,CR611939,CR612581,CR613649,CR614107,CR614230,CR617901,CR620163,CR620634,CR622302,CR624653,X06347 NP_004587,EAW56995,EAW56996,AAA61245,AAH00405,AAH08290,CAA29653,P09012 Hs.466775 GDB:120380 U1A protein-coding 1321959 SNRPA1 small nuclear ribonucleoprotein polypeptide A' 1580863 17353931,2928112,12226669,9731529,16964243,15635413,15489334,14702039,12477932,11991638,11790298,11780068,10811961,10339552,9716128,9531537,9373149,8331728,8125298,2148205 6627 AC023024,CH471101,AJ130971,AJ130972,AK090986,AK223070,AK223110,AK290078,AL538391,BC022816,BC067846,BC071717,CR599973,CR603117,CR605454,CR616055,CR618367,CR618414,CR620557,X13482,NM_003090 NP_003081,EAX02296,EAX02297,EAX02298,EAX02299,EAX02300,CAA10271,CAA10272,BAD96790,BAD96830,BAF82767,AAH22816,AAH67846,AAH71717,CAA31838,O95485,P09661,Q53G21,Q53G61,Q6NVW9,Q9NU36,Q9UEN1,ABM83764,ABM87083 Hs.528763 GDB:118876 protein-coding 733493 SNRPB small nuclear ribonucleoprotein polypeptides B and B1 The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. 1580863 12975319,12560496,12477932,12403470,12095920,12065586,11991638,11780068,11780052,11756452,11747828,11720283,11713266,11641277,11549288,11522829,11343899,11226169,11149922,10725331,10601333,10556313,15231747,10025403,11714716,11748230,2531083,2524838,15130578,10531003,15782174,15494309,9724750,9417867,9323129,8510173,7683587,2522439,2522186,2174118,1825643,1694885,1693924,1376292,17353931,15939020,9010216 6628 NM_198216,AF134825,AL049650,CH471133,CQ834772,X52979,AY742712,BC003530,BC080516,BM559678,CR456969,CR592024,CR598745,CR600173,NM_003091,CR604766,CR607671,CR609487,CR615802,CR619703,CR619872,CR620777,CR622172,CR623855,CR624875,J04564,M34081,M34082,X15893,X17567,X17568 NP_003082,NP_937859,AAD54488,AAD54489,CAB46714,CAB46715,EAX10596,EAX10597,EAX10598,EAX10599,CAH05601,CAA37170,CAA37171,AAU89981,AAH03530,AAH80516,CAG33250,AAA60151,AAA36578,AAA36579,CAA33902,CAB57867,CAB57868,P14678,Q15182,Q5XPV6,Q66K91,Q6IB35,Q6PKB4,Q9UIS4 Hs.83753 GDB:118877 COD|SNRPB1|SmB/SmB'|snRNP-B protein-coding 1320950 SNRPB2 small nuclear ribonucleoprotein polypeptide B'' The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. 1580863 9016565,7593271,2139037,17353931,2951739,12226669,9731529,15592455,15489334,12477932,12084575,11991638,11780068,11780052,11149922,10556282,9716128,9576861,9323129 6629 CR612578,AA953215,BC008311,CR616888,CR620323,CR625358,CR625592,M15841,NM_003092,NM_198220,AL034428,BC018022,BC022311,BC036737,BF243328,CR592015,CR592596,CR595063,CR601368,CR605743,CR605849,CR606972,CR607918,CH471133 EAX10284,EAX10285,EAX10286,AAH08311,AAA36796,P08579,Q86YK2,ABM81790,ABM84945,NP_003083,NP_937863,AAH18022,AAH36737,CAB38777 Hs.280378 GDB:125281 MGC24807|MGC45309 protein-coding 1345061 SNRPBL1 small nuclear ribonucleoprotein polypeptide B-like 1 6630 GDB:134180 1314465 SNRPC small nuclear ribonucleoprotein polypeptide C 1580863 9373149,9031639,8532530,8125298,2961811,2971157,15635413,15592455,12486009,12477932,11748230,10827180,10725331,9826776 6631 NM_003093,AL139100,CH471081,CS185544,AK223098,BC121082,BC121083,CR603118,CR625497,M18465,X12517 Q5TAL3,Q5TAL4,NP_003084,CAI20350,CAI20351,CAI20352,EAX03795,EAX03796,EAX03797,CAJ42725,BAD96818,AAI21083,AAI21084,AAA36618,CAA31037,P09234,Q53G33,Q5TAL2 Hs.1063 GDB:118878 FLJ20302 protein-coding 1314912 SNRPD1 small nuclear ribonucleoprotein D1 polypeptide 16kDa This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. 15130578,7527560,10531003,16247014,15489334,15231747,15146077,14559993,12975319,12477932,11991638,11780068,11756452,11748230,11747828,3260384,11714716,1701240,11713266,11522829,11389857,11226169,11135666,11101529,10942426,10747894,10747849,10725331,10601333,10025403,9417867,9323129,9168134,2528429,16189514,14524621 6632 AC106037,NM_006938,CH471088,L36188,AJ577268,BC001721,BC072427,CR542239,CR613811,J03798 NP_008869,EAX01130,AAA85339,CAE11897,AAH01721,AAH72427,CAG47035,AAA36620,P62314,Q7Z5A3 Hs.464734 GDB:125282 HsT2456|SMD1|SNRPD protein-coding 1312873 SNRPD2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. 11714716,11748230,12065586,12975319,12577067,12477932,11991638,11780068,11756452,11226169,11135666,11101529,10942426,10725331,10601333,10025403,9417867,9323129,3260384,11713266,16189514,15939020,15782160,14667819,1701240,15130578,7527560,10531003,16169070,15489334,15231747,15146077,15057824 6633 NM_004597,NM_177542,AC007191,CH471126,AK291912,BC000486,BC001930,BG528418,BU532756,U15008 NP_004588,NP_808210,AAD22673,EAW57373,EAW57374,BAF84601,AAH00486,AAH01930,AAC13776,P62316,ABM82172,ABM85358 Hs.515472 GDB:125283 SMD2|SNRPD1 protein-coding 1343555 SNRPD2P small nuclear ribonucleoprotein D2 pseudogene 414255 1345342 SNRPD3 small nuclear ribonucleoprotein D3 polypeptide 18kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. 11714716,11748230,12065586,1701240,15130578,10531003,7527560,15939020,15782174,15642139,15489334,15461802,15231747,15146077,14559993,12477932,11991638,11790298,11780068,11756452,11747828,11713266,11389857,11226169,11101529,10747894,10725331,10601333,10025403,9417867,9323129,12975319 6634 NM_004175,AP000356,CH471095,BC000457,BC003150,BC034447,BF344644,BM928709,CR456583,CR600958,U15009 NP_004166,EAW59670,AAH00457,AAH03150,CAG30469,AAA57034,P62318,CAK54613,CAK54912 Hs.356549 GDB:439381 SMD3 protein-coding 1313167 SNRPE small nuclear ribonucleoprotein polypeptide E 11714716,11748230,15130578,2974536,10531003,16960555,15489334,15231747,15146077,14667819,12477932,12065586,12022225,11991638,11756452,11226169,10725331,10601333,10025403,9417867,9323129,9020971,8098025,2974540,2972723,2522439,2440864,2143747,1835977,1688550,11713266,16189514,15939020 6635 NM_003094,AC114402,AC118554,CH471067,M21258,BC002639,BC072433,BC090951,CR603313,M15919,M37716,X12466 NP_003085,EAW91494,EAW91495,AAB59365,AAH02639,AAH90951,AAA36621,AAA90926,CAA31007,P62304 Hs.334612,Hs.654418 GDB:120381 B-raf|SME protein-coding 1347491 SNRPEL1 small nuclear ribonucleoprotein polypeptide E-like 1 414153 NG_006656,AL354707 CAH73282 bA390F4.4 pseudo 1313451 SNRPF small nuclear ribonucleoprotein polypeptide F 7744013,15231747,17353931,15130578,10531003,11991638,16169070,15939020,15489334,15146077,12477932,11756452,11748230,11226169,10725331,10601333,10556282,10025403,9417867,9020971,8889548,2974540,2522439,1688550 6636 NM_003095,AC090001,CH471054,BC002505,BC063397,BC128452,BC128453,BM972965,BU861031,CR456751,X85372 CAA59688,P62306,NP_003086,EAW97548,EAW97549,AAH02505,AAH63397,AAI28453,AAI28454,CAG33032 Hs.105465 GDB:125289 SMF protein-coding 1342723 SNRPFP1 small nuclear ribonucleoprotein polypeptide F pseudogene 1 170550 NG_001056,AL162615 GDB:11507903 dJ1041C10.2 pseudo 1353294 SNRPG small nuclear ribonucleoprotein polypeptide G 12165861,7744013,15130578,10531003,16189514,16169070,15939020,15489334,15146077,14603251,12477932,11991638,11748230,11226169,10725331,10601333,10556282,9417867,9020971,1387914,17353931 6637 NM_003096,AC079338,CH471053,CS185595,BC000070,BC022432,BC035103,BC066302,BC070166,BC071880,BC106055,CR456918,X85373 NP_003087,AAX81996,EAW99817,EAW99818,CAJ42776,AAH00070,AAH22432,AAH35103,AAH66302,AAH70166,AAH71880,AAI06056,CAG33199,CAA59689,P62308,Q49AN9,Q6IB86 Hs.465167,Hs.516076,Hs.631639,Hs.654528 GDB:125290 MGC117317|SMG protein-coding 1345744 SNRPGP small nuclear ribonucleoprotein polypeptide G pseudogene 326272 NG_002533,AL118556 pseudo 1350313 SNRPGP2 small nuclear ribonucleoprotein polypeptide G pseudogene 2 387610 1343749 SNRPN small nuclear ribonucleoprotein polypeptide N The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. 1601354 14715275,1533223,7512861,18361419,17262171,16169070,16116039,15489334,15105431,15014980,14702039,14500540,12477932,12456665,12244096,11726556,11713266,11317358,11159938,11149922,10725331,10556313,10318933,9931342,9915945,9590284,9373149,9070929,8845846,8841186,8571960,8363612,8125298,2753153,2528429,2522449,2522186,1303277,9417867 1601354 6638 NM_022808,NM_022806,NM_022805,NM_003097,NG_002690,NR_001293,NR_001294,NR_001292,NR_001295,NR_003316,NR_003317,NR_003318,NR_003319,NR_003320,NR_003321,NR_003322,NR_003323,NR_003324,NR_003325,NR_003326,NR_003327,NR_003328,NM_022807,NR_003355,NR_003356,NR_003357,NR_003358,NR_003359,NR_003329,NR_003330,NR_003331,NR_003332,NR_003333,NR_001290,NR_003334,NR_003335,NR_003336,NR_003337,NR_003338,NR_003339,NR_003340,NR_003341,NR_003361,NR_003360,NR_003294,NR_003298,NR_003299,NR_003300,NR_003301,NR_003302,NR_003303,NR_003304,NR_003305,NR_003306,NR_003307,NR_003308,NR_003309,NR_003310,NR_003311,NR_003312,NR_003313,NR_003314,NR_003315,NR_003495,NR_003342,NR_003343,NR_003496,NR_003497,NR_003344,NR_003345,NR_003346,NR_003347,NR_003348,NR_003349,NR_003350,NR_003351,NR_003352,NR_003353,NR_003354,AF319523,AF400432,AF400485,AF400486,AF400487,AF400488,AF400489,AF400490,AF400491,AF400492,AF400493,AF400494,AF400495,AF400496,AF400497,AF400498,AF400499,AF400500,AF400501,AF400502,AK123119,AK222633,NR_003499,NR_003362,NR_001289,AC090602,AC090983,AC100774,AC124303,AC124312,AC124997,AF087645,AF087646,AF087647,AF087648,AF087649,AF134832,AF148319,CH471151,AF092911,NR_003498,X15892,X16163,AY362862,AY362863,AY362864,AY362865,AY362866,AY421730,BC000611,BC003180,BC018809,BC025178,BC035280,BC113069,CR450350,CR591152,CR593346,CR593721,CR593899,CR594630,CR595630,CR597560,CR599234,CR599902,CR604539,CR620079,CR623042,J04615,L80004,L80005,U41303 NP_073718,NP_073719,NP_073717,NP_073716,NP_003088,AAK18178,AAK92481,AAD54487,EAW57613,EAW57614,EAW57615,EAW57616,EAW57617,EAW57618,EAW57619,EAW57620,EAW57621,EAW57622,EAW57623,CAA33901,CAA34288,P63162,Q53HE7,Q6LBS1,Q9BPU5,Q9UKR4,ABM83812,ABM87134,AAH00611,AAH03180,AAH25178,CAG29346,AAA36617,AAA98969,BAD96353 Hs.555970,Hs.564847,Hs.578619,Hs.585703,Hs.621316,Hs.632166 GDB:132444 HCERN3|RT-LI|SM-D|SMN|SNRNP-N|SNURF-SNRPN protein-coding 1316039 SNTA1 syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. 1580863 8576247,17081983,16637659,16533813,15489334,16344560,16192273,15024025,14702039,14623885,12477932,12206805,11780052,11747091,11717465,11571312,11551227,11352924,11278583,11168526,11163757,11069112,10995443,10404183,10230395,10221915,10212242,9512352,9412493,8612778,7890602 6640 NM_003098,AL355392,CH471077,AK095942,AK291994,AU118614,BC026215,BC113813,CR593272,S81737,U40571 NP_003089,CAC15884,EAW76314,EAW76315,EAW76316,EAW76317,BAF84683,AAH26215,AAI13814,AAB36398,AAC50448,Q13424,Q29RY0,ABM84492,ABM87815 Hs.31121 GDB:433889 SNT1|TACIP1|dJ1187J4.5 protein-coding 1317088 SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. 1580863 8183929,8119949,16533813,16192292,16192270,16192269,15489334,15024025,12665801,12477932,12136098,11352924,11168526,11069112,10545507,10212242,9482110,9412493,8576247,7844150 6641 NM_021021,AC104958,AC105142,AC129906,AJ333934,CH471060,L31529,AF028828,AK026095,AK292655,BC023571,BC098573 NP_066301,EAW92008,AAA81523,AAB84253,BAF85344,AAH98573,Q13884 Hs.655236 GDB:371344 59-DAP|A1B|BSYN2|DAPA1B|FLJ22442|MGC111389|SNT2|SNT2B1|TIP-43 protein-coding 1318541 SNTB2 syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. 1580863 11043403,10995443,10725395,10404183,9412493,8183929,8576247,17081983,16964243,16533813,15489334,15024025,14759258,12899872,12477932,12417987,12206805,12136098,12054535,11483505,11352924,11168526 6645 NM_006750,AC009131,AC026464,AC026474,AJ329412,AJ331949,CH471092,AF243385,BC031058,BC035134,BC036429,BC048215,U40572 NP_006741,EAW83258,EAW83259,EAW83260,AAK15149,AAH48215,AAC50449,Q13425 Hs.461117 GDB:433890 D16S2531E|EST25263|SNT2B2|SNT3|SNTL protein-coding 1347731 SNTG1 syntrophin, gamma 1 The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This gene is specifically expressed in the brain. Transcript variants for this gene have been described, but their full-length nature has not been determined. 1580863 10747910,16533813,16381901,15761153,15489336,15489334,15088139,12477932,11352924,11230166,11076863,12877659,12832401 54212 NM_018967,AC023762,AC023842,AC087173,AC087366,AC090450,AC090539,AC103784,AC104376,CH471068,AJ003030,AL161971,BC075072,BC104829 NP_061840,EAW86704,EAW86705,EAW86706,CAB92968,CAB82311,AAH75072,AAI04830,Q9NSN8,CAL38547 Hs.584914 GDB:10797033 G1SYN|SYN4 protein-coding 1350202 SNTG2 syntrophin, gamma 2 This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. 1580863 10747910,17292328,12477932,12429735 54221 NM_018968,AC114808,AC116614,AC144444,AC144527,CH471053,AJ003029,BC035783,BC125251 NP_061841,EAX01092,CAB92969,AAI25252,Q05AH5,Q9NY99 Hs.657453 GDB:10797035 G2SYN|MGC133174|SYN5 protein-coding 1353124 SNUPN snurportin 1 The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. 1580863 15130578,10531003,16169070,16030253,15920472,15489334,14702039,12477932,12095920,10209022,9670026 10073 NM_001042588,NM_005701,NM_001042581,AC105020,AC105036,CH471136,AF039029,AK054641,AK289475,BC004203,BU945130,CD244425,CR456811,CR598709,CR623423,CR623907 NP_001036053,NP_005692,NP_001036046,EAW99245,EAW99246,AAC70906,BAF82164,AAH04203,CAG33092,O95149,ABM84014,ABM87359 Hs.21577 GDB:11508547 KPNBL|RNUT1|Snurportin1 rna, u transporter 1 protein-coding 736038 SNURF SNRPN upstream reading frame This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. 634164,1580863 10318933,16344560,16116039,15489334,15014980,12477932,11726556,8845846,8571960,8363612,2753153,2528429,2522449,2522186,11696545,10617653 634164 8926 NM_022804,NM_005678,NG_002690,AC090602,AC124312,CH471151,AF101044,AI017249,AK098563,AW451120,BC024777,DA134019 NP_073715,NP_005669,EAW57625,EAW57626,EAW57627,AAD31391,AAH24777,Q9Y675 Hs.564847 GDB:9957894 protein-coding 1321977 SNW1 SNW domain containing 1 This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. 1580863 10713164,16102918,9569025,15194481,9632709,16595688,16169070,16083285,15905409,15635413,15489334,15316101,14985122,12840015,12529369,12508121,12508107,12477932,12466551,12101239,11991638,11522815,11514567,11509665,11404076,11371506,11278756,10644367,8973337,15546612 22938 NM_012245,AC008044,AC008372,CH471061,U43960,AF045184,AK292274,BC032377,BC040112,BC046105,BC065286,BC105585,BC108903,BT020060,BT020061,CR457433,CR594471,U51432 NP_036377,AAF01479,AAF23325,EAW81305,EAW81306,EAW81307,EAW81308,AAB48857,AAC31697,BAF84963,AAH40112,AAH46105,AAH65286,AAI05586,AAI08904,AAV38863,AAV38864,CAG33714,AAC15912,Q0D2M5,Q13573,Q6I9S2,Q6P151,Q9ULA6 Hs.546550 Bx42|MGC119379|NCOA-62|PRPF45|Prp45|SKIIP|SKIP ski interacting protein protein-coding 68962 SNX1 sorting nexin 1 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. 16189514,11279102,9819414,18088323,17502486,17145813,17101778,16487940,16407403,15882442,15673616,15498486,15489334,12878157,12657642,12477932,12198132,12058063,11997453,11410165,11309204,11110793,11102511,9373149,9110174,8638121,8619474,8125298 6642 NM_152826,NM_148955,AC021541,AC100840,CH471082,AB209013,AF065483,AF065484,AF131792,AK128179,AK222561,AK222793,AK291752,AL050148,AU279817,BC000357,BQ935515,NM_003099,BT006983,CR617673,CR620387,U53225 NP_003090,NP_690039,NP_683758,EAW77663,EAW77664,EAW77665,EAW77666,BAD92250,AAC17182,AAC17183,BAC87312,BAD96281,BAD96513,BAF84441,AAH00357,AAP35629,AAA98672,Q13596,Q53GY8,Q53HL9,Q59GU6,Q6ZRJ8,ABM81677,ABM84844 Hs.188634 GDB:1391763 HsT17379|MGC8664|SNX1A|Vps5 protein-coding 1314019 SNX10 sorting nexin 10 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein whose function has not been determined. 1580863 17012226,12853948,12690205,12477932,12461558,11485546 29887 BM147978,BX648363,CR612403,NM_013322,AC004540,AC010677,AC074295,CH236948,CH471073,AF121860,BC031050,BC034992 Q75MD2,Q75MY3,Q8IYT5,Q8N5Z3,Q9Y5X0,ABM83346,ABM86560,NP_037454,AAS02029,AAS07476,EAL24234,EAW93848,EAW93849,EAW93850,EAW93851,AAD27833,AAH31050,AAH34992 Hs.571296 GDB:11508713 MGC33054 protein-coding 1316444 SNX11 sorting nexin 11 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. 1580863 15489334,14702039,12477932,12461558,11485546 29916 NM_152244,NM_013323,AC006468,CH471109,AF121861,AK023932,AK091852,BC000768,BC103721,BT006723,CR593364 NP_689450,NP_037455,EAW94752,EAW94753,EAW94754,EAW94755,EAW94756,EAW94757,AAD27834,BAB14732,AAH00768,AAI03722,AAP35369,Q9Y5W9 Hs.15827 GDB:11508714 MGC111019 protein-coding 1350610 SNX12 sorting nexin 12 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. 1580863 17081983,16166738,15592455,15489334,12477932,12461558,11485546 29934 BC020559,BC080535,BC103847,BC103848,BM805683,BT007203,CR624966,NM_013346,AL590764,CH471132,AF171229 AAD48491,AAI03848,AAI03849,AAP35867,Q3SYF1,Q9UMY4,NP_037478,EAX05323,EAX05324,EAX05325 Hs.260750 GDB:11508715 MGC118982|MGC118983 protein-coding 1320299 SNX13 sorting nexin 13 This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. 1580863 15489334,14759258,14702039,12477932,12461558,12438708,11729322,11485546,9872452 23161 NM_015132,AC073205,AC080080,CH236948,CH471073,AB018256,AF121862,AF420470,AK001861,AK023740,AK026643,AL353943,BC022060,BC041844,BC045667,BC050289,BG718588,BX503974 NP_055947,EAW93689,EAW93690,EAW93691,EAW93692,EAW93693,EAW93694,EAW93695,EAW93696,EAW93697,EAW93698,EAW93699,BAA34433,AAD27835,AAL37728,CAB89251,AAH22060,AAH45667,Q86XC4,Q9NSH0,Q9Y5W8 Hs.585343 KIAA0713|RGS-PX1 protein-coding 1322101 SNX14 sorting nexin 14 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 15489334,14702039,12477932,12461558,11736640,11500980,11485546 57231 NM_020468,NM_153816,AL136082,AL589666,CH471051,AF121863,AJ420561,AK000362,AK026479,AK095380,AK125063,AK226097,AY044865,BC005110,BC046520,BC068589,BC095419,BI458735,BI463232,CB054302 NP_065201,NP_722523,CAI20444,CAI20445,CAI40162,CAI40163,CAI40166,EAW48631,EAW48632,EAW48633,AAD27836,AAK97796,AAH05110,AAH46520,AAH68589,AAH95419,Q4VBR3,Q5TCF9,Q5TCG0,Q6NUI7,Q6PI37,Q9Y5W7 Hs.485871 MGC13217|RGS-PX2|RP11-321N4.2 protein-coding 1314058 SNX15 sorting nexin 15 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. This gene encodes two transcript variants encoding distinct isoforms. 1580863 11085978,16189514,15489334,14702039,12477932,11208079,9373149,9253601,8125298 29907 BT006674,BX444780,CR595019,CR614003,CR619183,NM_013306,NM_147777,AP000436,AP003068,CH471076,AB209439,AF001435,AF175267,AF175268,AK223502,BC009897,BC012767,BC014520,BE547440,BE884806,BT006631 AAP35320,O14612,Q53YD8,Q59FM1,Q9NRS6,NP_037438,NP_680086,EAW74334,BAD92676,AAB81205,AAF89955,AAF89956,BAD97222,AAH09897,AAH12767,AAH14520,AAP35277 Hs.80132,Hs.502836 GDB:11504577 HSAF001435 protein-coding 733907 SNX16 sorting nexin 16 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The function of this protein has not been determined. This gene results in three transcript variants encoding two distinct isoforms. 15489334,12813048,12477932,12461558,11736640,11485546 64089 NM_152837,NM_152836,NM_022133,AC087349,AC132219,CH471068,AF305779,AK290903,AL833763,BC033630,BG700892,BG739930 NP_690050,NP_690049,NP_071416,EAW87108,EAW87109,AAG25676,BAF83592,CAH56235,AAH33630,P57768,Q658L0 Hs.492121 DKFZp666H147 protein-coding 1315030 SNX17 sorting nexin 17 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. 1580863 12169628,11237770,10942595,16712798,16052210,15815621,15769472,15489334,15231748,15121882,14739284,12665801,12477932,11485546,9373149,8125298,7584044 9784 BC002524,BC002610,BC014620,BC021108,BC032320,BC050590,BT007167,CR457081,CR593657,CR607260,CR612997,CR614181,CR615476,CR615965,CR616594,CR621161,D31764,NM_014748,AC074117,AJ404855,CH471053,CQ834622,AK129689,AK222543 AAH02524,AAH02610,AAH14620,AAH50590,AAP35831,CAG33362,BAA06542,Q15036,NP_055563,AAY14844,CAC12897,EAX00584,EAX00585,EAX00586,CAH05526,BAD96263 Hs.278569 GDB:9784519 KIAA0064 protein-coding 1321231 SNX18 sorting nexin 18 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 14679214,17761170,16782399,15851553,14702039,12477932,12461558,11736640,11485546 112574 CN479485,NM_001102575,NM_052870,AC091888,CH471123,AF395536,AI335241,AI669182,AK022059,AK057122,BC060791,BC067860,BC117218,BC117220,BJ990551,CD722181 Q05BB3,Q0VG02,NP_001096045,NP_443102,EAW54894,AAK82415,AAH60791,AAH67860,AAI17219,AAI17221,Q96RF0 Hs.432755,Hs.606166 GDB:11510592 FLJ11997|FLJ32560|MGC150827|MGC150829|SH3PX2|SH3PXD3B|SNAG1 protein-coding 1604682 SNX19 sorting nexin 19 11564866,9039502,16273344,18073581,16344560,15146197,12477932,12461558 399979 NM_014758,AP000824,AP001093,CH471065,AF395843,AK292457,AL512699,BC031620,BU431333,BU623384,CB999595,CN307729,D87443,DB098024,DN990954 NP_055573,EAW67794,AAK73124,BAF85146,CAC21700,AAH31620,BAA13384,Q8IV55,Q92543,Q9H036 Hs.444024 CHET8|DKFZp667I205|KIAA0254 protein-coding 1352467 SNX19P sorting nexin 19 pseudogene 378810 NG_006946,AL078475 pseudo 1321108 SNX2 sorting nexin 2 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with formin-binding protein 17, but its function is unknown. This protein may form oligomeric complexes with family members. 1580863 14596906,9819414,11279102,17319803,17101778,16964243,16179610,15690390,15546961,15489334,15302935,14978220,14702039,12477932,11485546,11438682,11102511,9373149,8125298 6643 NM_003100,AC008669,AC093267,CH471086,AF043453,AF065482,AK002170,AK023581,AK023716,AK222968,AY272044,BC003382,BT009841,CR617462 NP_003091,EAW48883,EAW48884,AAB99852,AAC17181,BAD96688,AAQ02693,AAH03382,AAP88843,O60749,Q53GG3,ABM81859,ABM85022 Hs.696016 GDB:1391762 MGC5204|TRG-9 protein-coding 1604540 SNX20 sorting nexin 20 18196517,16782399,16189514,14702039,12477932 124460 NM_182854,AC007608,CH471092,AK055837,AK292650,AK292705,AY302441,BC027944,BC063423,BC119625,BC119626 NP_878274,EAW82763,EAW82764,BAF85339,BAF85394,AAP58362,AAH27944,AAH63423,AAI19627,Q7Z614 Hs.460777 MGC35578|SLIC-1|SLIC1 protein-coding 1322486 SNX21 sorting nexin family member 21 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 16344560,14702039,12477932,12461558,12459172,11780052,11736640,11485546 90203 AK091359,AK095851,AK226120,AL591562,BC012904,BC019823,BM925584,NM_033421,NM_152897,NM_001042632,AL008726,CH471077,AF258570,AF395845,AF523834,NM_001042633,CR601928,CR617424,DA053179 AAM77915,BAC03646,BAC04637,CAC39140,AAH12904,AAH19823,NP_001036098,NP_219489,NP_690857,NP_001036097,CAI20242,CAI20243,CAI20244,CAI20245,CAI20246,EAW75799,EAW75800,EAW75801,AAG23773,AAK73126,Q05DJ0,Q5JZH3,Q5JZH5,Q5JZH7,Q8WUR6,Q8WY78,Q969T3 Hs.472854 GDB:11505164 C20orf161|MGC29895|PP3993|SNX-L|dJ337O18.4 chromosome 20 open reading frame 161 protein-coding 1312835 SNX22 sorting nexin 22 1580863 17400918,14702039,12477932,12461558,16189514 79856 NM_024798,AC100840,CH471082,CS185585,AK024014,AK126655,AL832838,AY044653,BC014660,BC019655,BC030225,BC036532 NP_079074,EAW77667,EAW77668,CAJ42766,BAB14776,BAC86630,AAK98767,AAH19655,AAH30225,Q6ZTF9,Q8N2U4,Q8WUS9,Q96L94 Hs.708268 FLJ13952 protein-coding 1315725 SNX24 sorting nexin 24 1580863 15489334,14702039,12975309,12477932,12461558 28966 NM_014035,AC008669,AC022116,CH471086,AF139461,AK021473,AY044655,AY358098,BC010886,BC069012,CR609766 NP_054754,EAW48880,EAW48881,EAW48882,AAD32668,AAK98769,AAQ88465,AAH10886,AAH69012,Q9Y343 Hs.483200 PRO1284|SBBI31 protein-coding 1320883 SNX25 sorting nexin 25 17081983,14702039,12477932,12461558 83891 NM_031953,AC073344,CH471056,AF113223,AK026814,AK095661,AW968034,AY044656,AY601647,BC029868,BM554003,BX508898 NP_114159,EAX04651,EAX04652,AAG39294,BAB15562,AAK98770,AAT98627,AAH29868,Q3ZT30,Q8N6K3,Q9H3E2,Q9H5Q8 Hs.369091 FLJ23161|MSTP043|SBBI31 protein-coding 1318751 SNX26 sorting nexin 26 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. The specific function of this protein has not been elucidated. Alternative splice variants have been described but their full-length nature has not been determined. 1580863 16777849,15489334,15057824,14702039,12773384,12477932,12461558,12297274,11736640,11485546,11441184 115703 NM_052948,AC002398,AK096338,AK127255,AL137579,AY044864,BC014084,BC128586,CR625873 NP_443180,AAB81197,AAB81198,BAC86902,CAB70821,AAK97795,AAH14084,AAI28587,O14559 Hs.515364 FLJ39019|TCGAP protein-coding 1349647 SNX27 sorting nexin family member 27 This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. 1580863 17577583,17351151,16710414,15466885,14702039,12477932,12461558,11485546,9455484,8889548,15121882 81609 NM_030918,AL391335,AL589765,CH471121,AB007957,AF060509,AJ009640,AK001395,AY044866,BC012184,BC051817,BC071825,BC100998,BC100999,BC101000,BC101822,BC101824,BC107862,BG472531,BM560557,BU676479,CB853160 NP_112180,CAH73501,CAH73502,CAH73503,CAI17164,CAI17165,CAI17169,EAW53423,EAW53424,EAW53425,EAW53426,EAW53427,EAW53428,BAE16986,AAG43127,AAK97797,AAH12184,AAH51817,AAH71825,AAI00999,AAI01000,AAI01001,AAI01823,AAI01825,AAI07863,Q96L92 Hs.192326 KIAA0488|MGC126871|MGC126873|MGC20471|MRT1|MY014 protein-coding 1604256 SNX29 sorting nexin 29 16782399,14702039,12477932,10493829,8889548 92017 NM_001080530,AC007598,AC007601,AC010333,AC092365,AC131391,U95737,AK024473,AK074072,AL137333,BC013346,BC029857,BM692924,BX648908 NP_001073999,AAC31664,BAB15763,BAB84898,AAH29857,O75768,Q8TEQ0,Q9H7K6,AAI56064 Hs.585745 A-388D4.1|FLJ00143 similar to riken cdna 4933437k13 protein-coding 1345268 SNX3 sorting nexin 3 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. 1580863 9819414,11279102,17655765,17081983,16964243,15489334,14574404,12665801,12477932,12471201,11433298 8724 NM_003795,AL078596,CH471051,Z98742,AB047360,AF034546,AF062483,AK289476,BC008444,BC014580,BC015179,BC016863,BG497532,BT007114,CR456898,CR595428,CR601831,CR606126 NP_003786,CAI20817,CAI20818,CAI20819,EAW48378,EAW48379,EAW48380,EAW48381,EAW48382,EAW48383,EAW48384,CAI95646,CAI95647,CAI95648,BAB32649,AAC16040,AAC16018,BAF82165,AAH08444,AAH14580,AAH15179,AAH16863,AAP35778,CAG33179,O60493,Q4TT29,Q4TT31 Hs.12102 GDB:9956747 Grd19|MCOPS8|MGC17570|SDP3|SNX3A protein-coding 1601789 SNX30 sorting nexin family member 30 14702039,12477932 401548 NM_001012994,AL139041,AL360235,AL390067,CH878453,AA401207,AK091599,AK092908,AK126644,AK127013,AK128080,AK128710,AK129991,BC014914,BG699098,BX367137 NP_001013012,CAH71937,EAW50549,Q5JSR1,Q5VWJ9 Hs.522350 FLJ26481|FLJ34280|FLJ35589|FLJ44686|FLJ45069|FLJ46877 protein-coding 1603261 SNX31 sorting nexin 31 16782399,14702039,12516573,12477932 169166 NM_152628,AP000424,AP001205,CH471060,AK093906,BC031260 NP_689841,EAW91812,EAW91813,BAC04249,AAH31260,Q8N9S9 Hs.567758 MGC39715 protein-coding 1605258 SNX32 sorting nexin 32 16782399,15203218,14702039,12477932 254122 NM_152760,AP001266,CH471076,AK055496,AK289587,AL833261,BC040981,BC045563,CD638068 NP_689973,EAW74441,EAW74442,EAW74443,EAW74444,EAW74445,EAW74446,EAW74447,BAB70935,BAF82276,AAH40981,AAH45563,Q86XE0 Hs.591950 DKFZp761P1320|FLJ30934|MGC42112|MGC57276|SNX6B protein-coding 1603528 SNX33 sorting nexin 33 16782399,16374509,15302935,14702039,12477932 257364 NM_153271,AC105020,CH471136,AK091291,AL833039,BC018775,EF219141,EF653821 NP_695003,EAW99243,BAC03628,CAH56299,AAH18775,ABN09670,ABV26009,Q8NBB0,Q8WV41,ABM82621,ABM86137 Hs.8705 MGC32065|SH3PX3|SH3PXD3C|SNX30 sh3 and px domain containing 3 protein-coding 1320273 SNX4 sorting nexin 4 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. 1580863 11279102,9819414,17994011,17319803,15489334,14702039,12668730,12477932,16189514 8723 NM_003794,AC080096,AC117487,CH471052,AF065485,AF130078,AK001835,BC018762,BI669801,CR596306,CR599850 NP_003785,EAW79390,EAW79391,EAW79392,EAW79393,AAC83149,AAG35504,AAH18762,O95219,Q9H398,ABM83057,ABM86251 Hs.507243 GDB:9956746 protein-coding 1320945 SNX5 sorting nexin 5 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein binds to fanconi anemia complementation group A protein, but its function is unknown. This gene results in two transcript variants encoding the same protein. 1580863 17148574,15561769,15489334,15133132,14702039,12477932,11780052,11485546,10600472,9373149,8125298,16189514 27131 NM_152227,NM_014426,AL121585,CH471133,AF121855,AK001793,AK026227,AK054634,AK129505,AK223308,AL832967,BC000100,BC002724,BC062638,BC093623,BC093980,BT007191,CR590760,CR591673,CR600241,CR601419,CR608822,CR610846,CR621801 NP_689413,NP_055241,CAC00471,CAI14858,CAI14859,EAX10263,EAX10264,EAX10265,EAX10266,EAX10267,EAX10268,AAD27828,BAA91914,BAD97028,AAH02724,AAH62638,AAH93623,AAH93980,AAP35855,Q53FH8,Q6P5V6,Q9BUD1,Q9Y5X3 Hs.316890 GDB:11508479 FLJ10931 protein-coding 1312208 SNX6 sorting nexin 6 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. 1580863 11279102,17148574,14702039,12477932,11591366,11485546 58533 NM_152233,NM_021249,AL445363,AL445883,CH471078,AF109364,AF121856,AK021456,AK124315,AK292250,BC001798,BG722853,BI870378,CR590030,CR593172,CR594308,CR604623,CR621895,CR623714,CR625969,U83194 NP_689419,NP_067072,EAW65913,EAW65914,EAW65915,EAW65916,EAW65917,EAW65918,AAQ13512,AAD27829,BAF84939,AAH01798,AAD24202,Q5QTQ6,Q9BUY3,Q9UNH7 Hs.583855 GDB:11508710 MGC3157|MSTP010|TFAF2 protein-coding 1313530 SNX7 sorting nexin 7 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region like some family members, and its function is unknown. This gene results in two transcript variants encoding two distinct isoforms. 1580863 16189514,15489334,12477932,12461558,11485546,9373149,8125298 51375 NM_015976,NM_152238,AL627442,CH471097,AF121857,AK025031,AK223229,AK293018,AL049989,BC010349,BC018105,BI856196,BT006747,CR597164,CR610212 NP_057060,NP_689424,CAH72125,CAH72126,EAW72995,EAW72996,EAW72997,EAW72998,AAD27830,BAD96949,BAF85707,CAB43229,AAH10349,AAH18105,AAP35393,Q53FQ3,Q5VT09,Q5VT10,Q9UNH6 Hs.197015 GDB:11508711 DKFZP564F052|MGC8717 protein-coding 1314037 SNX8 sorting nexin 8 1580863 15489334,12690205,12477932,12461558,11485546 29886 NM_013321,AC004971,CH236953,CH471144,AF121858,AK074544,BC007785,BC021565 NP_037453,EAL23950,EAW87234,EAW87235,EAW87236,AAD27831,AAH07785,AAH21565,Q9Y5X2,ABM83434,ABM86648 Hs.584900 GDB:11508712 Mvp1 protein-coding 1353452 SNX9 sorting nexin 9 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but does contain a SH3 domain near its N-terminus. This protein interacts with the cytoplasmic domains of the precursor but not the processed forms of a disintegrin and metalloprotease domain 9 and 15. This protein binds the beta-appendage domain of adaptor protein 2 and may function to assist adaptor protein 2 in its role at the plasma membrane. This protein interacts with activated Cdc42-associated kinase-2 to regulate the degradation of epidermal growth factor receptor protein. 1580863 10531379,16189514,17948057,17609109,17242350,16903783,16585770,16316319,16137687,15703209,15489334,15299020,15231747,14702039,14679214,14574404,12952949,12477932,11879186,11799118,11485546 51429 AL035634,AL139330,AL391863,CH471051,AB209736,AF001629,AF076957,AF121859,AF131214,AF172847,AF190158,AJ420452,NM_016224,AJ420512,AK026637,AK127345,BC001084,BC005022,BG766499,CR624899 NP_057308,CAI20465,CAI12979,EAW47668,EAW47669,BAD92973,AAD00898,AAD43001,AAD27832,AAF04473,AAL54871,AAQ13702,AAH01084,AAH05022,O95061,Q59ES5,Q7Z4B8,Q9Y5X1,ABM84226,ABM87788 Hs.191213 GDB:11504443 MST155|MSTP155|SDP1|SH3PX1|SH3PXD3A|WISP protein-coding 731038 SOAT1 sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 Acyl-coenzyme A:cholesterol acyltransferase (ACACT; EC 2.3.1.26) is an intracellular protein located in the endoplasmic reticulum that forms cholesterol esters from cholesterol. Accumulation of cholesterol esters as cytoplasmic lipid droplets within macrophages and smooth muscle cells is a characteristic feature of the early stages of atherosclerotic plaques (Cadigan et al., 1988 [PubMed 3335499]).[supplied by OMIM] 1300048,730139,1580863 8407899,9756919,18269457,17622762,17593314,17412327,16763159,16647063,16474185,16230498,16154994,16043284,16013913,15992359,15850387,15768051,15489334,15353128,15319423,15308631,15253151,15219857,14729857,12851640,12533546,12477932,11483630,11353332,10623671,10438503,10196189,9756920,8197480,3335499 730139 6646 AL355806,AL451075,AL512326,CH471067,AK026611,AK290659,AL833625,BC028940,CR597057,L21934,NM_003101 EAW91043,EAW91044,BAF83348,AAH28940,AAC37532,P35610,Q5T0X5,ABM82733,ABM85917,NP_003092 Hs.496383 GDB:251696 ACACT|ACAT|ACAT1|RP11-215I23.2|SOAT|STAT protein-coding 730963 SOAT2 sterol O-acyltransferase 2 Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. 1581189,1581190,1581191,1556516,1625282,1601112,1581921,625687,1580863 9756920,17303779,16647063,16331323,16274362,16230498,15992359,15961790,15451793,15308631,14729857,14615411,12808042,12621162,12477932,11401500,11325614,11294643,11071899,11042153,10846185,9756919,9242919,8650549,15782160 1581189,1581190,1581191,1556516,1625282,1601112,1581921,625687 8435 AC073573,NM_003578,AF331516,AF332857,AF332858,CH471054,AF059203,AF099031,BC096090,BC096091,BC096092,BC099626 NP_003569,AAK18275,AAK48829,EAW96665,AAC63998,AAC78335,AAH96090,AAH96091,AAH96092,AAH99626,O75908,Q4KKX1,Q4VB99,Q4VBA1 Hs.656544 GDB:9958912 ACACT2|ACAT2|ARGP2|MGC116732 protein-coding 1605982 SOBP sine oculis binding protein homolog (Drosophila) 14702039,12477932,8889548 55084 NM_018013,AL096816,AL121957,AL671934,CH471051,AK090879,BC014859,BC091526,BC113966,BM684094,BX442875,DQ507800 NP_060483,EAW48397,EAW48398,EAW48399,BAC03537,AAH91526,AAI13967,ABF72848,A7XYQ1,Q24K27 Hs.445244 FLJ10159|JXC1 protein-coding 1347441 SOCS1 suppressor of cytokine signaling 1 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. 1625125,1580863 14762685,14634100,14630083,14614901,14614012,14522994,12900355,12865927,12759928,12601549,12485838,12477932,12470648,12456503,12228220,12163560,12163497,12080466,12077274,12076535,12070153,11971965,11907070,11889171,11854514,11835308,15021916,14976049,9727029,9202125,9202126,18250407,18203295,18172216,18035697,17888401,17867599,17652621,17589943,17438093,17315216,17264307,17230231,17099141,17001312,16984412,16943387,16815301,16628196,16532038,16498413,16432158,16421738,16415872,16410555,16407264,16287070,16082380,15850793,15688010,15589317,15545275,15522878,15456882,15386345,15373779,15361843,15240148,15235874,15198092,15197228,15169905,15166476,15121754,15074307,11696536,11553846,11445538,11384984,11297560,11208867,11133764,10585430,10517496,10512686,10490100,10064597,10051596,10022833,9341160,9266833,7796808,16429138,11342531 1625125 8651 NM_003745,AC009121,AF132440,CH471112,DQ086801,Z46940,AB000676,AB000734,AB005043,AK127621,BC029307,U88326 NP_003736,AAD27709,EAW85163,AAY87931,CAB92528,BAA21537,BAA23521,BAA22431,AAB62401,O15524,Q4JHT5,AAI48543,AAI53089 Hs.50640 GDB:9579256 CIS1|CISH1|JAB|SOCS-1|SSI-1|SSI1|TIP3 protein-coding 1352815 SOCS2 suppressor of cytokine signaling 2 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10 and interferon (IFN)-gamma. The protein encoded by this gene is found to interact with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R), and thus is thought to be involved in the regulation of IGF1R mediated cell signaling. Knockout studies in mice also suggested a regulatory role of this gene in IGF-1 related growth control. 1580863 9266833,9344848,12135564,9727029,11781573,17666591,17651480,17325857,17264307,17008382,16684815,16675548,16406727,16199887,16189514,16097082,15489334,15361843,12552091,12477932,12076535,11889171,11861294,11835308,11034314,10890450,10585430,10512686,10455112,10453981,9202403 8835 AC012085,AF132441,CH471054,AB004903,AB006966,AF020590,AF037989,AK290546,AL522912,BC010399,BC070039,CR595909,NM_003877 NP_003868,AAD27710,EAW97492,EAW97493,BAA22429,BAA22536,AAC98896,AAC34745,BAF83235,AAH10399,O14508 Hs.485572 GDB:9957356 CIS2|Cish2|SOCS-2|SSI-2|SSI2|STATI2 protein-coding 1352978 SOCS2P1 suppressor of cytokine signaling 2 pseudogene 1 276719 NG_002411,AL121901 GDB:11511192 pseudo 1349432 SOCS2P2 suppressor of cytokine signaling 2 pseudogene 2 9074928 266701 NG_000002,D87000 GDB:11510756 pseudo 730833 SOCS3 suppressor of cytokine signaling 3 This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. 1625125,1625684,1625677,625688,1625683,1625676,632385,1625688,730264,1580863,1357935 9266833,18250407,18097573,18055217,18045952,17935223,17895321,17881539,17668875,17636039,17589943,17530721,17445271,17438093,17374732,17363902,17325857,17297444,17273770,17264307,17241887,17148681,17138568,17001312,16943387,16920065,16914720,16831601,16822822,16805839,16709613,16685656,16568091,16543409,16410555,16402267,16381901,16374465,16344560,16210657,16055089,16007195,16007169,15939448,15629435,15618960,15607366,15589317,15489336,15489334,15385932,15361843,15331532,15308667,15300962,15249995,15240148,15217536,15163721,15070676,14617776,14559241,12847520,12783885,12688541,12654831,12626585,12565872,12560330,12477932,12459551,12403768,12351404,12228220,12198248,12182826,12163560,12133942,12076535,12070153,12027890,11970967,11889171,11867182,11786421,11727828,11713228,11481489,11331873,11279517,11076863,11071852,11034314,11018044,10946280,10882725,10837055,10585430,10490101,10421843,10051596,9344848 1625125,1625684,1625677,625688,1625683,1625676,632385,1625688,730264,1357935 9021 NM_003955,AC061992,CH471099,AB004904,AB006967,AF159854,AU134017,BC060858,BE245649,BT019544,CR536497,CR541694,CR602820 NP_003946,EAW89521,EAW89522,BAA22430,BAA22537,AAD42231,AAH60858,AAV38351,CAG38736,CAG46495,O14543,Q5U0H7,Q6FI39,CAL37774,CAL38024,CAL38368 Hs.527973 GDB:9954774 ATOD4|CIS3|Cish3|MGC71791|SOCS-3|SSI-3|SSI3 protein-coding 1315155 SOCS4 suppressor of cytokine signaling 4 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1357941,1580863 17997974,15590694,15489334,14702039,12477932,12076535,10500304 1357941 122809 NM_199421,NM_080867,AL139316,AL160471,AL352982,CH471061,AF424815,AK056685,AK124083,AK126195,AK127299,BC060790,BX161418,BX648734,CD109883,CR933659 NP_955453,NP_543143,EAW80655,AAL60517,AAH60790,CAD61893,CAI45958,Q5H9R6,Q8WXH5 Hs.708344 GDB:9955972 DKFZp686J1568|SOCS7 protein-coding 1346055 SOCS5 suppressor of cytokine signaling 5 The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. 1580863,1357941 10773671,16210657,15590694,15489334,14707129,12477932,12242343,12076535,11835308,11553846,11230166,9734811,9419338 1357941 9655 NM_014011,NM_144949,AC020604,CH471053,AB014571,AF073958,AI433294,AK290194,AL136896,BC032862 NP_054730,NP_659198,AAY24289,EAX00235,EAX00236,EAX00237,BAA31646,AAD40484,BAF82883,CAB66830,AAH32862,O75159,Q53SD4,ABM82139,ABM85322 Hs.468426 GDB:9957896 CIS6|CISH6|Cish5|KIAA0671|SOCS-5 protein-coding 1312180 SOCS6 suppressor of cytokine signaling 6 The protein encoded by this gene contains a SH2 domain and a CIS homolog domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by GM-CSF and EPO in hematopoietic cells. A high expression level of this gene was found in factor-independent chronic myelogenous leukemia (CML) and erythroleukemia (HEL) cell lines. 1625125,1580863,1357941 9344848,17603019,17210122,16643902,15761153,14707129,14702039,12477932,12076535,12052866,11342531,11042152 1625125,1357941 9306 NM_004232,AC023395,CH471117,AB006968,AF161545,AK024356,BC020082,CR601456 NP_004223,EAW66522,EAW66523,EAW66524,BAA22538,AAF29032,AAH20082,O14544,Q8WUM3,Q9NZX6 Hs.44439 CIS4|HSPC060|SOCS4|SSI4|STAI4|STATI4 protein-coding 1317076 SOCS7 suppressor of cytokine signaling 7 1625125,1580863,1357941 9344857,17803907,16625196,16127460,15677474,15489334,15242778,14702039,14644140,14607831,12477932,12076535,12052866,11837794,10969179,9419338 1625125,1357941 30837 NM_014598,AC115992,AC124789,CH471152,AA233668,AB005216,AI223248,AK094338,AW613025,BC121030,BC121031,BC128607 NP_055413,EAW60512,BAA22432,AAI28608,O14512 Hs.514132,Hs.632261 GDB:11511194 NAP4 protein-coding 730855 SOD1 superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. 737689,1580846,1600704,1600708,1581192,1581207,1581213,1581214,1581216,1581220,1581221,1581222,1581223,1581228,1581229,1581230,1581232,1580863,1580834,1300048,1581209,1580833 9726962,17008312,10837872,17324120,15544046,17381088,12871978,10920331,9539776,15473258,12485882,16790527,16716898,16254550,17512922,11527942,17077646,17504823,9699963,7172448,9453566,15766328,18469020,18428003,18423055,18387669,18305395,18273717,18268245,18243716,18233996,18192269,18057069,18055113,18054242,18033592,18006498,17992192,17987632,17979159,17914031,17903209,17902702,17888947,17823119,17786603,17725983,17715066,17689501,17683925,17683122,17667843,17664146,17652584,17646272,17636481,17636250,17636119,17634480,17624778,17602442,17592131,17573040,17555556,17549529,17549011,15377661,17548825,17483589,17469116,17463094,17457363,17453634,17453632,17420412,17418947,17394531,17368952,17328801,17299743,17292357,17272778,17257622,17255946,17171548,17166276,17164329,17157513,17157186,17097745,17092942,17065353,17056476,17038899,17005595,16989689,16973244,16963403,16952453,16945901,16943203,16920710,16903849,16895791,16880213,16877401,16868544,16857362,16847061,16798882,16780879,17513298,16758302,11930144,11912919,11854285,11854284,11771762,11756571,11675874,11561030,11535232,11513882,11457725,11369193,11350569,11220750,11006081,10889018,10830953,10809943,10735277,10732812,10677207,10439968,10430435,10400992,10329151,9817920,9718300,9541385,9455977,9131652,9101297,8990014,8938700,8909456,8907321,8900247,8682505,8592323,8528216,8446170,8351519,8332197,8298637,8179602,8105280,8069312,8004110,7997024,7980516,7951252,7951249,7911198,7887412,7881433,7870076,7836951,7795609,7755363,7700376,7655471,7655469,7655468,7647793,7643359,7501156,7496169,7002610,6770891,6577438,6316150,6096825,3889846,3680284,3160582,2853161,1463506,1332049,752535,16871233,14975589,15869407,16792821,15879701,15223067,16189514,16009131,11115513,16741123,16730180,16716900,16674979,16644738,16636275,16600249,16584877,16583143,16567804,16540901,16525202,16467073,16435343,16424062,16423367,16407238,16406071,16291929,16291742,16191429,16132821,16105836,16094314,16084730,16046141,16046140,16036425,16020530,16000635,16000321,15990193,15961078,15952740,15909112,15870505,15851752,15829914,15829169,15816858,15812313,15799963,15789135,15758154,15755678,15753080,15743779,15691826,15672551,15634772,15629867,15623718,15579468,15576639,15546588,15531919,15522970,15507437,15489334,15488469,15485869,15475574,15474511,15465081,15379995,15358145,15350647,15338334,15326189,15304256,15295091,15288122,15263088,15258228,15233914,15223614,15193434,15166009,15123612,15109247,15068249,15050437,15050430,15016076,15006704,14988262,14981234,14978393,14970233,14759637,14734542,14718574,14711010,14690536,14684739,14596848,14578853,14568129,14526083,14506936,13129804,13129803,12972170,12963370,12963085,12921788,12871577,12818209,12815046,12787913,12783432,12774661,12754496,12753090,12738898,12732844,12729761,12718436,12710516,12710511,12686560,12665801,12661766,12659845,12649272,12644909,12626552,12606529,12597246,12590575,12573532,12531528,12502789,12480087,12477932,12475980,12458194,12447480,12442272,12441104,12437574,12402272,12393885,12356748,12270693,12218958,12215228,12213295,12210393,12145308,12144846,12138710,12127151,12126755,12099681,12050154,12039658,11996514,11951178 737689,1580846,1600704,1600708,1581192,1581207,1581213,1581214,1581216,1581220,1581221,1581222,1581223,1581228,1581229,1581230,1581232,1580834,1581209,1580833 6647 X95228,AV756797,AY049787,AY450286,BC001034,BT006676,CA448539,CR450355,CR541742,CR594020,CR600386,CR613850,CR621637,CR624343,EF151142,W17182,X02317,NM_000454,AP000253,AP000254,AY835629,CH471079,L44139,L44746,L46374,L46375,X01780,X01781,X01782,X01783,X01784 CAA64520,AAL15444,AAR21563,AAH01034,AAP35322,CAG29351,CAG46542,ABL96616,CAA26182,P00441,Q6NR85,NP_000445,AAV80422,EAX09889,EAX09890,AAB05661,AAB05662,AAC41773,AAB59626,AAB59627,CAA25915,CAA25916,CAA25917,CAA25918,CAA25919 Hs.443914 GDB:119596 ALS|ALS1|IPOA|SOD|homodimer protein-coding 730872 SOD2 superoxide dismutase 2, mitochondrial This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1581148,1581214,1581220,1581222,1581231,1581233,1581234,1581235,1581236,1581237,1581238,1581239,1581240,1581241,1581242,1581243,1581244,1581245,1581246,1581247,1581248,1581249,1581250,1581251,1581252,1581253,1581254,1581255,1581256,1581257,1581258,1581259,1581260,1581262,1580836,1580837,1580838,1579972,1625694,1625699,1582141,1625695,1580833,1580840,1580863 14980699,9393747,9462746,15087454,18469277,18466086,18423055,18396798,18387669,18327668,18305395,18296681,18258609,18247479,18205184,18180754,18167310,18167182,18095014,18057537,18044968,18023606,17974967,17967822,17965603,17936883,17922231,17879532,17822322,17719580,17693525,17653087,17652337,17646272,17634480,17628794,17617122,17616699,17588204,17582511,17577737,17575500,17567676,17548864,17548672,17491681,17473980,17465268,17459574,17453961,17449559,17409931,17400324,17376152,17340208,17336594,17331249,17299970,17299255,17296902,17293864,17291655,17290392,17277236,17217237,17211829,17192491,17188257,17186424,17171548,17149600,17145829,17142144,17085785,17055157,17018785,17005595,16969494,16966488,16966185,16956909,16956821,16945136,16933053,16868544,16859522,16847469,16819819,16807759,16780879,16780268,16769586,16740634,16630148,16626843,16543247,16540901,16538174,16510607,16485861,16475114,16467073,16458347,16424062,16423340,16381901,16369462,16324912,16281056,16215873,16206227,16179351,16170370,16166634,16157826,16148556,16107721,16084535,16076760,16047490,16006997,15952740,15951095,15933380,15923250,15908783,15894290,15887859,15883815,15878096,15869407,15838728,15817612,15809720,15781667,15774926,15767364,15765450,15743756,15734485,15734083,15706661,15705913,15701646,15673194,15621215,15610954,15598343,15591282,15589819,15581626,15535847,15534883,15512801,15512788,15489336,15489334,15455371,15386537,15345661,15338334,15337840,15331175,15330761,15308628,15217492,15213518,15196853,15184255,15168344,15166009,15131792,15094225,15088300,15075214,14744747,14729580,14704872,14702039,14688256,14687717,14643949,14638684,14611903,14578853,14574404,14515147,14503839,12963120,12960753,12948282,12946273,12880680,12829021,12815947,12732398,12711112,12700280,12684509,12683635,12673575,12644569,12627943,12624725,12592389,12590982,12551919,12540612,12517793,12477932,12469139,12447859,12239572,12161520,12127599,12126755,12078513,12063011,12032830,11977425,11912930,11912921,11853549,11849743,11837748,11836586,11756571,11721640,11719088,11580280,11481695,11350569,11323405,11299047,11124296,11076863,10852710,10748080,10425186,10393559,9882443,9537988,9537987,9484232,9150946,9110146,8889548,8806673,8633092,8605177,8395050,7895732,7859743,7702755,7498159,7493016,6386798,3684581,3399391,2831093,2738919,2462451,1988135,1699607,1427917,1394426,752518,14975589,16792821,15879701,15223067,17353931,16189514,15266664,15247771 1581148,1581214,1581220,1581222,1581231,1581233,1581234,1581235,1581236,1581237,1581238,1581239,1581240,1581241,1581242,1581243,1581244,1581245,1581246,1581247,1581248,1581249,1581250,1581251,1581252,1581253,1581254,1581255,1581256,1581257,1581258,1581260,1581262,1580836,1580837,1580838,1579972,1625694,1625699,1582141,1625695,1580833,1580840 6648 NM_001024465,NM_000636,AL135914,AY267901,CH471051,D83493,L34157,S77127,X65965,AK097395,AL050388,AL691784,AY280718,NM_001024466,AY280719,AY280720,AY280721,BC012423,BC016934,BC035422,BG699596,BM994509,BT006967,BU164685,BU741675,CR626136,DQ003134,M36693,X07834,X14322,X15132,X59445,Y00472,Y00985 NP_001019637,NP_001019636,NP_000627,CAI21845,CAI21846,AAP03428,EAW47629,EAW47630,EAW47631,BAA18955,AAA83933,AAD14248,CAB62521,AAP34407,AAP34408,AAP34409,AAP34410,AAH12423,AAH16934,AAP35613,AAY21807,AAA36622,CAA30687,CAA32502,CAA33228,CAA42066,CAA68533,CAA68791,P04179,Q4ZJI1,Q5TCM0,Q6LE88,Q6LEN1,Q7Z7M4,Q7Z7M5,Q7Z7M6,Q7Z7M7,Q96AM7,Q9UG59,CAL37714,ABM92204,ABM84678 Hs.487046 GDB:119597 IPO-B|MNSOD|Mn-SOD protein-coding 736515 SOD3 superoxide dismutase 3, extracellular This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the dismutation of two superoxide radicals into hydrogen peroxide and oxygen. The product of this gene is thought to protect the brain, lungs, and other tissues from oxidative stress. The protein is secreted into the extracellular space and forms a glycosylated homotetramer that is anchored to the extracellular matrix (ECM) and cell surfaces through an interaction with heparan sulfate proteoglycan and collagen. A fraction of the protein is cleaved near the C-terminus before secretion to generate circulating tetramers that do not interact with the ECM. 1581225,1581230,1581232,1581254,1581264,1581265,1581266,1581268,1581270,1581277,1581298,1581299,1580852,1580841,1580853,1581095,1625698,1580863,1579965,1580843,1580845,1580842 8034674,17937792,17717013,17679946,17646272,17296902,17070542,17023265,16899934,16842247,16809550,16611809,16540901,16469315,16467073,16399992,16344560,16335952,16100289,16014615,15990193,15899505,15761197,15528465,15489334,15166009,15044467,14736885,14704872,14662715,14619883,14592844,12830380,12815947,12663605,12477932,12475988,12126755,12052468,11861638,11299047,10329680,8889548,8864862,8694786,8546689,7959763,7662997,6541229,3476950,2276747,2106874,1505778,1477980,14975589,15869407,16792821,15879701,15223067 1581225,1581230,1581232,1581254,1581264,1581265,1581266,1581268,1581270,1581277,1581298,1581299,1580852,1580841,1580853,1581095,1625698,1579965,1580843,1580845,1580842 6649 NM_003102,AC006390,AY787834,CH471069,S71544,U10116,BC014418,BI757365,BM677660,CR541853,CR592129,CR595031,CR597150,CR606896,CR607978,CR608025,CR618426,CR622278,CR625060,DA668533,J02947 NP_003093,AAV40827,EAW92823,AAB31336,AAA62278,AAH14418,CAG46651,AAA66000,P08294,Q16867,ABM83012,ABM86206 Hs.2420 GDB:125291 EC-SOD|MGC20077 superoxide dismutase 3 protein-coding 1605184 SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 16690745,16344560,12477932 402381 NM_001012415,NM_001101677,AL158822,CH471090,AY884306,AY902244,BC031861,DB307692,DB339952,EB710265 NP_001012415,NP_001095147,CAI39241,EAW88174,EAW88175,EAW88176,AAW78548,AAW82617,AAH31861,Q5JUK2 Hs.120464 C9orf157|NOHLH|TEB2|bA100C15.3 protein-coding 1603036 SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 12477932,16189514,14702039 54937 NM_017826,AL160392,CH471075,AK000456,AK023568,AK131058,AY884305,BC013944,BC025383,BC037403 NP_060296,CAC42466,EAX08552,EAX08553,EAX08554,EAX08555,EAX08556,EAX08557,BAA91175,AAW78547,AAH25383,Q9NX45 Hs.124519,Hs.646618,Hs.656745 FLJ20449|TEB1|bA121N13.2 protein-coding 1315174 SOLH small optic lobes homolog (Drosophila) This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. 1580863 9722942,15489334,12477932,11157797,11076863,10524757,8640222 6650 NM_005632,AE006464,CH471112,Z97986,BC001869,BC011939,BC021854,BC032648,BC040169,BC044259,BC112918,BX341589,U69557,U85647 NP_005623,AAK61233,EAW85803,AAH01869,AAH21854,AAH32648,AAI12919,AAC33822,O75808,Q8N595,AAI11933,AAI18502 Hs.632219 GDB:9864178 CAPN15|MGC131491 protein-coding 1319118 SON SON DNA binding protein The protein encoded by this gene binds to a specific DNA sequence upstream of the upstream regulatory sequence of the core promoter and second enhancer of human hepatitis B virus (HBV). Through this binding, it represses HBV core promoter activity, transcription of HBV genes, and production of HBV virions. The protein shows sequence similarities with other DNA-binding structural proteins such as gallin, oncoproteins of the MYC family, and the oncoprotein MOS. It may also be involved in protecting cells from apoptosis and in pre-mRNA splicing. Several transcript variants encoding different isoforms have been described for this gene, but the full-length nature of only two of them has been determined. 1580863 15302935,15231748,14759258,14702039,14637006,12477932,11782456,11707072,11306577,10950926,10830953,10470851,8318737,3054499,1944255,1463009,1435774,1435773,1424986,8031013,17353931,10509013,17081983,16964243,16916647,16565220,15324660 6651 AF380181,AF380182,AF380183,AF380184,AF435977,AK024752,AK074269,AK091233,AK127947,AK128071,AY026895,BC002422,NM_138927,NM_032195,AP000303,AP000304,CH471079,BC005337,BC017278,BC029455,BC046101,BC054029,BC066303,BC104656,BF197677,BM998625,X63071,X63751,X63753,M36428,AB028942,AF139897,AF161428,AF161430,AF380179,AF380180 AAL34499,AAL34500,AAL34501,AAL34502,AAL30810,BAB14985,BAC87202,AAK07692,NP_620305,NP_115571,EAX09814,EAX09815,EAX09816,EAX09817,EAX09818,EAX09819,EAX09820,EAX09821,EAX09822,EAX09823,EAX09824,AAH02422,AAH05337,AAH29455,AAI04657,CAA44793,CAC69885,CAA45282,P18583,Q3SWV4,Q6PKE0,Q6ZRV7,AAA36624,BAA82971,AAD50078,AAF28988,AAF28990,AAL34497,AAL34498 Hs.517262 GDB:331317 BASS1|C21orf50|DBP-5|FLJ21099|FLJ33914|KIAA1019|NREBP|SON3 protein-coding 1606708 SONP1 SON pseudogene 1 8503959 148300 NG_001549,AL356276,X63754,X71604 pseudo 1320080 SORBS1 sorbin and SH3 domain containing 1 1580863,1642731,1642744 10085297,11374898,11371513,17462669,16381901,15777793,15716063,15489336,15489334,14702039,12849814,12690089,12510380,12504111,12477932,12421765,12395215,12079283,11997497,11557983,11532984,11481476,11230166,11076863,11001060,10718198,10583506,9461600,15128873,17353931 1642731,1642744 10580 AL707894,AL832353,AM260536,BC042612,BC152463,BX640814,U70668,NM_024991,NM_006434,NM_001034957,NM_001034955,NM_001034954,NM_001034956,AL157890,AL158165,CH471066,AB037717,NM_015385,AF136380,AF136381,AF330623,AF330624,AF356525,AF356526,AF356527,AJ489942,AK022468,AL117472,AL122082 CAJ97431,AAH42612,AAI52464,CAE45892,AAB93496,A0AED4,Q0JU51,Q5T923,Q5T924,Q5T926,Q5T927,Q5T928,Q5T929,Q5T930,Q5T931,Q5T932,Q6MZY5,Q9BX66,Q9HA15,CAL37960,NP_056200,NP_079267,NP_006425,NP_001030129,NP_001030127,NP_001030126,NP_001030128,CAI14378,CAI14379,CAI14380,CAI14381,CAI14382,CAI14383,CAI14384,CAI14385,EAW49998,EAW49999,EAW50000,EAW50001,EAW50002,EAW50003,EAW50004,EAW50005,EAW50006,EAW50007,EAW50008,AAD27647,AAF22175,AAK57479,AAK57480,AAK37563,AAK37564,AAK37565,CAD34588,BAB14045,CAB55947,BAA92534 Hs.696027 GDB:11498717 CAP|DKFZp451C066|DKFZp586P1422|FLAF2|FLJ12406|KIAA1296|R85FL|SH3D5|SH3P12|SORB1 protein-coding 732975 SORBS2 sorbin and SH3 domain containing 2 Arg and c-Abl represent the mammalian members of the Abelson family of non-receptor protein-tyrosine kinases. They interact with the Arg/Abl binding proteins via the SH3 domains present in the carboxy end of the latter group of proteins. This gene encodes the sorbin and SH3 domain containing 2 protein. It has three C-terminal SH3 domains and an N-terminal sorbin homology (SoHo) domain that interacts with lipid raft proteins. The subcellular localization of this protein in epithelial and cardiac muscle cells suggests that it functions as an adapter protein to assemble signaling complexes in stress fibers, and that it is a potential link between Abl family kinases and the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. 9211900,16381901,16344560,16189514,15949647,15784622,15489336,15302935,15128873,14702039,12510380,12477932,12475393,12421765,12023963,11481476,11292345,11230166,11076863,10521485,9872452,9373149,8889549,8125298,15778465 8470 NM_021069,NM_003603,AC096659,AC104805,AC108472,CH471056,AA114994,AB018320,AF049884,AF049885,AF090937,AK056628,AK056758,AK225327,AK225812,AU142147,BC011883,BC035329,BC122526,CB988614,CR625998,AC093797 NP_066547,NP_003594,EAX04630,EAX04631,EAX04632,EAX04633,EAX04634,EAX04635,EAX04636,EAX04637,BAA34497,AAC05508,AAC05509,AAF24049,AAH11883,O60592,O60593,O94875,Q0JS05,Q0JSD2,Q0JSI8,Q0JSY6,Q0JTB8,Q0JTL7,Q0JTU4,Q0JTW2,Q0JU77,Q0JU99,Q0JUE8,Q0JUK0,Q0JUP4,Q0JUS8,Q0JVM4,Q96EX0,CAL37436,CAL37496,CAL37534,CAL37644,CAL37671,CAL37728,CAL37863,CAL37890,CAL37892,CAL37912,CAL37932,CAL37934,CAL38005,CAL38050,CAL38068,CAL38099,CAL38145,CAL38245,CAL38378,CAL38512,CAL38526,CAL38569,CAL38582,CAL38709,CAL37733,CAL37767,CAL37811 Hs.655143 ARGBP2|KIAA0777|PRO0618 arg/abl-interacting protein argbp2 protein-coding 1604395 SORBS3 sorbin and SH3 domain containing 3 The SORBS3 gene encodes 2 isoforms vinexin-alpha and -beta that are vinculin (VCL; MIM 193065)-binding cytoskeletal proteins involved in focal adhesion and cell-cell adhesion (Kioka et al., 1999 [PubMed 9885244]).[supplied by OMIM] 9885244,17486060,17081983,16964243,16923119,16189514,15734736,15489334,15302935,15242778,15184391,12660241,12657639,12510380,12477932,10585480 10174 NM_001018003,AC037459,CH471080,AF037261,AF064807,BC004314,BC010146,BC067260,BC091514,BM999851,CF456833,CR598111,CR605936,NM_005775,CR606865,CR610210,CR621670,CR622445,CR623414,CX783871 NP_005766,NP_001018003,EAW63673,EAW63674,EAW63675,EAW63676,AAC09244,AAD32304,AAH04314,AAH10146,AAH67260,AAH91514,O60504,Q6NX54,Q96FY4,Q9BT70 Hs.528572 SCAM-1|SCAM1|SH3D4|VINEXIN protein-coding 1314224 SORCS1 sortilin-related VPS10 domain containing receptor 1 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 11499680,12482870,15164054,14702039 114815 NM_052918,NM_001013031,AL133395,AL160010,AL356255,AL356308,AL357333,CH471066,AB209142,AF284756,AK074581,AK123752,AK125464,AK126905,AK289797,AY099452,AY099453,BC131597,BE019093 NP_443150,NP_001013049,CAI40753,CAI40754,CAI40755,CAH70582,CAH73442,CAI14367,EAW49583,EAW49584,EAW49585,EAW49586,EAW49587,BAD92379,AAL56667,BAF82486,AAM43811,AAM43812,AAI31598,Q8WY21 Hs.591915 FLJ41758|FLJ43475|FLJ44957 protein-coding 1321631 SORCS2 sortilin-related VPS10 domain containing receptor 2 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. 1580863 11499680,16344560,12477932,10718198 57537 NM_020777,AC004169,AC080003,AC097382,AC112710,AC116316,CH471131,AB037750,AF286190,AI206155,BC035257,DA215907,R37251 NP_065828,EAW82363,EAW82364,BAA92567,AAL04014,Q96PQ0,AAI56054,AAI56940 Hs.479099 protein-coding 1322178 SORCS3 sortilin-related VPS10 domain containing receptor 3 This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. 1580863 11499680,15710408,15164054,12477932,10470851 22986 NM_014978,AL161646,AL353900,AL355350,AL358949,AL365449,AL445492,AL589942,AL596118,CH471066,AB028982,BC045754,BC117417 NP_055793,CAH70335,CAI64578,CAI64579,CAH72221,CAH70813,CAH70477,EAW49589,EAW49590,BAA83011,AAH45754,AAI17418,Q17R88,Q86XB2,Q9UPU3 Hs.671950 RP11-107L7.1|SORCS protein-coding 735508 SORD sorbitol dehydrogenase 1601362,1601364,1601360,1300048,1580863 8088829,17343568,16189514,15862967,15489334,14965227,14702039,12962626,12665801,12595725,12477932,9880675,9183016,8487505,7782086,7601136,6439573,2691249 1601362,1601364,1601360 6652 NM_003104,AC090888,AC091117,CH471082,L29254,U67243,AK090738,BC021085,BC025295,CR601547,CR616486,L29008,U07361 NP_003095,EAW77284,EAW77285,AAA80566,AAB61898,AAH21085,AAH25295,AAA80565,AAA66064,Q00796,ABM83695,ABM87015 Hs.878,Hs.633539 GDB:119598 SORD1 protein-coding 1322123 SORL1 sortilin-related receptor, L(DLR class) A repeats-containing This gene encodes a protein that belongs to the families of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins, of low density lipoprotein receptor (LDLR) proteins, and of fibronectin type III repeats proteins. In addition to VPS10, LDLR and fibronectin type 3 domains, this protein also includes an epidermal growth factor precursor-like module, a single transmembrane segment and a cytoplasmic tail with features similar to endocytosis- and sorting-competent receptors. Members of the VPS10 domain-containing receptor family are large with many exons but the CDS lengths are usually less than 3700 nt; this gene is an exception to the pattern with a CDS length greater than 6600 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. The encoded protein is mainly intracellular and localizes in the paranuclear compartment. It is synthesized as a preproprotein, and when the propeptide is still attached, no binding occurs to the VPS10 domain. This gene is strongly expressed in the central nervous system. 1581303,1580863 17326667,9157966,18407551,18093545,18090307,18063222,17978276,17975299,17949987,17826910,17721864,17589324,17420311,17220890,16565469,16531402,16489755,16407538,16344560,16174740,15313836,14764453,14702039,12970790,12530537,12477932,11821067,11557679,11294867,10375696,8940146,8619474 1581303 6653 NM_003105,AP000664,AP000977,CH471065,AI358248,AK025583,AK096577,BC032903,BC040643,BQ888333,DA386525,DB499706,DN831521,U90916,Y08110 NP_003096,EAW67524,EAW67525,EAW67526,EAW67527,CAA69325,Q92673 Hs.368592 GDB:5370948 C11orf32|FLJ21930|FLJ39258|LR11|LRP9|SORLA|SorLA-1|gp250 protein-coding 731682 SORT1 sortilin 1 This gene encodes a protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. 1580863 10085125,14985763,9756851,11331584,15992544,18258592,18193044,18193043,18088323,17353931,17220298,16710414,16344560,16263699,15987945,15930396,15489334,15364913,15313463,14702039,14657016,12598608,12477932,12419319,12360476,12209882,11859376,11499680,11390366,11257441,10390649,9927419,9657377,9305862,9013611 6272 NM_002959,AL390252,CH471122,AI623426,AI695671,AK000757,AK023648,AK129918,AK130545,AK293118,AL117561,AU132384,BC023542,BC041982,BC053575,BF591118,BQ001031,BQ774407,BX955818,CB267773,CR611381 NP_002950,CAI13180,EAW56380,BAF85807,AAH23542,Q99523,ABM87792 Hs.485195,Hs.703487 GDB:1230497 Gp95|NT3 protein-coding 1322140 SOS1 son of sevenless homolog 1 (Drosophila) This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. 1580011,1580863,1581104,1581110 9790532,9690470,10206341,12029088,14679214,11520933,8493579,7739560,8479541,8810325,18454158,18064648,17586837,17510059,17486115,17437339,17315019,17283063,17143285,17143282,17075039,17062749,16906159,16760435,15976327,15302935,15173068,15010862,14656442,14565974,14551916,12486104,12223473,12147692,12099688,11956071,11868160,11707404,11560935,11560919,11352907,11278868,11173924,11071869,10995566,10943841,10913276,10716926,10706702,10507724,10499589,10026169,9856337,9651378,9544989,9529355,9480847,9447973,9374522,9344843,9182757,9182529,9162067,8816480,8647802,8631299,8276400,7862111,7664271,7629168,7520523,12628188,9374537,8112292 1580011,1581104,1581110 6654 NM_005633,NG_007530,AC019171,AC092672,AF106953,AF441482,CH471053,AB209140,AK290228,AL833457,AV702692,L13857 NP_005624,AAX93186,AAY24202,AAF04460,AAM22406,EAX00350,EAX00351,EAX00352,EAX00353,BAD92377,BAF82917,AAA35913,Q07889,Q53SF8,Q59GG9,Q8NIA3,Q9UKX9,AAI40216 Hs.709893 GDB:230004 GF1|GGF1|GINGF|HGF|NS4 protein-coding 1346295 SOS2 son of sevenless homolog 2 (Drosophila) 1580863 14679214,17440948,17143285,14551139,12628188,12477932,12097864,11003655,10940929,10938118,10820259,10675333,9372945,9067577,8943292,8493579,8276400,7629138 6655 NM_006939,AL109758,CH471078,AB209277,AI419975,BC117261,L13858,L20686 NP_008870,EAW65727,EAW65728,BAD92514,AAI17262,AAA35914,AAA91852,Q07890,Q17RN1,Q59G32 Hs.291533 GDB:230041 FLJ25596 protein-coding 737334 SOST sclerosteosis Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. 68858,1580863 14633986,11181578,18292354,17185822,17052975,17002572,16189254,16123173,15545262,15514891,15489334,15454089,15340161,15199066,15024046,14739291,12975309,12477932,12398949,12116252,11836356,11179006 68858 50964 NM_025237,AC055813,AF326736,CH471178,CQ986736,AF170491,AF184211,AF326739,AF331844,AY358203,AY358627,BC101086,BC101087,BC101088,BC101089 NP_079513,AAK13451,EAW51669,CAI46877,AAQ13601,AAQ13694,AAK13454,AAK16158,AAQ88570,AAQ88990,AAI01087,AAI01088,AAI01089,AAI01090,Q7Z2R3,Q7Z4G0,Q9BQB4 Hs.349204 GDB:10450629 VBCH sclerostin protein-coding 1343094 SOSTDC1 sclerostin domain containing 1 This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. 15951218,15489334,15280373,15020244,14702039,14623234,12853948,12690205,12477932 25928 NM_015464,AC079155,CH236948,CH471073,AB059270,AF361494,AI540640,AI927000,AK093408,AL050024,AY255634,BC008484,CR606874,CR614752 NP_056279,AAQ96855,EAL24287,EAW93669,BAC20331,AAL57219,CAB43243,AAQ83296,AAH08484,Q6X4U4 Hs.648106 CDA019|DKFZp564D206|ECTODIN|USAG1 protein-coding 1348976 SOX1 SRY (sex determining region Y)-box 1 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. 1580863 9337405,15110721,12194848,12100890,11071752,10729834,9512512 6656 NM_005986,AL138691,CH471085,Y13436 NP_005977,CAH72340,EAX09158,CAA73847,O00570,Q5W0Q1 Hs.202526 GDB:250372 protein-coding 731681 SOX10 SRY (sex determining region Y)-box 10 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. 1580863 11029584,9722528,9425902,18348274,18348267,17999358,17855658,17855451,17621166,17009072,16896310,16791471,16741945,16582099,16494873,16214168,16205963,15930386,15896776,15843399,15489334,15461802,15004559,14523991,12944398,12720173,12668617,12477932,12189494,12138193,11546831,10942418,10762540,10591208,10482261,10441344,9760192,9462749,1636383 6663 NM_006941,AL031587,CH471095,AJ001183,BC002824,BC007595,BC018808,BT020029,CR456584,CR536571 NP_008872,CAB62982,CAO72041,EAW60204,EAW60205,CAA04576,AAH02824,AAH07595,AAV38832,CAG30470,CAG38808,P56693,Q6FHW7,CAK54614,CAK54913,ABM84098,ABM87470 Hs.376984 GDB:9834028 DOM|MGC15649|WS2E|WS4 sry-box containing gene 10 protein-coding 735734 SOX11 SRY (sex determining region Y)-box 11 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. 1580863 8666406,17934069,17762975,16276109,16166090,16018252,15944188,15345747,12637543,12477932,12194848,12125983,12100890,10574465,9632656,8332506 6664 NM_003108,AC108025,CH471053,AB028641,BC025789,CR622054,U23752,X73038 NP_003099,AAX88930,CAA51519,BAA88122,AAH25789,AAB08518,P35716,Q05CH0,Q4ZFV8,EAX01047 Hs.432638 GDB:677487 sry-box containing gene 11 protein-coding 1318728 SOX12 SRY (sex determining region Y)-box 12 Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. 1580863 9215677,15489334,12477932,11780052,11222737,11071752,8889548,8332506,7566098 6666 NM_006943,AL034548,CH471133,AA322870,AW296348,BC028103,BC067361,BF530163,BM670751,U35612 NP_008874,CAB81632,EAX10683,AAH67361,AAB69627,O15370 Hs.43627,Hs.708333 GDB:6287261 SOX22 protein-coding 1320144 SOX13 SRY (sex determining region Y)-box 13 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. 1580863 10198172,14679071,12477932,12473246,12194848,12100890,12021135,12021128,12021110,12021109,11323090,11286511,11270687,11264788,11126406,10871192,10854791,9421502 9580 NM_005686,AF149301,AL592146,CH471067,AF083105,AF098915,AF116571,BC040649,BC106038,BM450236,BQ216323,BQ935858 NP_005677,AAD50120,CAI16595,CAI16596,EAW91499,EAW91500,AAC83687,AAD16237,AAF23875,AAH40649,AAI06039,Q3KQV7,Q49AC0,Q5SXX1,Q5SXX2,Q9UN79,ABZ92220 Hs.201671 GDB:9957407 ICA12|MGC117216|Sox-13 protein-coding 1320109 SOX14 SRY (sex determining region Y)-box 14 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. 1580863 9925951,15489334,12477932,12194848,12100890,10830911,10798354,10441749,9827568 8403 NM_004189,AC007159,AF032451,AF032453,AF107043,AF193436,AJ006230,CH471052,BC106729,BC106730 O95416,NP_004180,AAC94971,AAC94973,AAC95380,AAF76294,CAB43111,EAW79097,AAI06730,AAI06731,O95132 Hs.248184 GDB:9865060 MGC119898|MGC119899|SOX28 protein-coding 1323788 SOX15 SRY (sex determining region Y)-box 15 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. 1580863 9540826,8332506,9827568,18182846,15489334,12477932,12194848,12100890,10524236,9880678,9730625,8978787 6665 NM_006942,AB025355,AC016876,AF032450,AF032452,CH471108,X73039,AB006867,AJ006222,BC000985,BC072003 NP_008873,BAA78784,AAC94970,AAC94972,EAW90156,EAW90157,CAA51520,BAA25663,CAA06920,AAH00985,AAH72003,O60248,O95130,O95131,ABM81662,ABM84834 Hs.95582 GDB:636557 SOX20|SOX26|SOX27 protein-coding 1313358 SOX17 SRY (sex determining region Y)-box 17 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. 1580863 16344560,15163629,14702039,12477932,12194848,12100890,11786926 64321 AC091076,CH471068,AB073988,AK025905,NM_022454,BC030209,BC111365,BC111770,DA874945 NP_071899,EAW86748,BAB83867,BAB15277,AAH30209,AAI11366,AAI11771,Q2NKK5,Q2T9L5,Q9H6I2,AAI40308 Hs.98367 GDB:11507905 FLJ22252 protein-coding 1323321 SOX18 SRY (sex determining region Y)-box 18 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. 1599075,1580863 10807548,18065521,16882943,16179596,15489334,12740761,12477932,12194848,12165811,12100890,11780052,11748221,11554755,11130989,10858556,7665083,1614875 1599075 54345 CR618677,CR620118,CR621620,CR622272,CR622805,X65664,AL355803,CH471077,AB033888,AF086136,AF270652,AJ243896,BC035513,BC038590,BC073971,BC111390,CR601016,CR603832,CR611852,NM_018419 CAA46615,P35713,NP_060889,CAC16611,EAW75172,BAA94874,AAG48577,CAB95835,AAH38590,AAH73971,AAI11391 Hs.8619 GDB:10796836 HLTS protein-coding 1344695 SOX2 SRY (sex determining region Y)-box 2 This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). 1599088,1580863 7849401,18474784,18385794,18268498,18187129,18162777,18157115,18039390,18027866,17898260,17587179,17522144,17506876,17464316,17389240,17334350,17291498,17219395,17136346,16932809,16712695,16596179,16552336,16283891,16153702,15920534,15910596,15489334,14719100,14655050,14559893,12923055,12732652,12710953,12637543,12612584,12477932,12194848,11358870,10801796,10760287,10729834,10089404,8889548,7590241 1599088 6657 NM_003106,AC117415,CH471052,AW016610,AW163619,BC013923,BM668019,BM722297,CR592780,L07335,Z31560 NP_003097,EAW78354,AAH13923,AAA35997,CAA83435,P48431,Q9UD89,ABZ92183 Hs.518438 GDB:250373 ANOP3|MCOPS3|MGC2413 protein-coding 1312334 SOX21 SRY (sex determining region Y)-box 21 SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM] 1580863 10441749,1614875,12477932,12194848,11076863,9827568,8111369 11166 NM_007084,AF032449,AF107044,AL137061,CH471085,AI418194,AI569726,AI816765,BM783159,X65666,X71136 NP_009015,AAC94969,AAC95381,CAI14398,EAX08946,CAA46617,CAA50466,O95129,Q5TBS1,Q9Y651,AAI11585 Hs.187577 GDB:9957006 SOX25 protein-coding 1350865 SOX2OT SOX2 overlapping transcript (non-protein coding) 16344560,14702039,12612584,12477932 347689 NR_002810,NR_004053,AC117415,AK022826,AL157425,BC016393,BC041898,DA250340 Hs.654932 DKFZp761J1324 miscrna 1347884 SOX3 SRY (sex determining region Y)-box 3 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. 1580863 8625802,17994562,17910945,17627381,17587179,17127446,17005281,15800844,15788563,15772651,15489334,15342697,15292361,14714741,14585968,12710953,12477932,12428212,12194848,11071752,10729834,8111369,1614875 6658 AF264713,AL121875,CH471150,X71135,BC093863,BC093865,X65665,X71137,NM_005634 P41225,Q15505,NP_005625,AAF73059,CAB87584,EAW88422,CAA50465,AAH93863,AAH93865,CAA46616,CAA50467 Hs.157429 GDB:250376 MRGH|SOXB protein-coding 1602491 SOX30 SRY (sex determining region Y)-box 30 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may be involved in the differentiation of developing male germ cells. Two transcript variants encoding distinct isoforms have been identified for this gene. 16189514,15489334,15019997,12477932,11678506,10359848 11063 NM_007017,NM_178424,AC008694,CH471062,AB022083,AB022441,BC033492 NP_008948,NP_848511,EAW61593,EAW61594,BAA37146,BAA37149,AAH33492,O94993 Hs.529462 GDB:9956372 protein-coding 1319854 SOX4 SRY (sex determining region Y)-box 4 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. 1581119,1581304,1581305,1581306,1580863 8268656,17507571,16636670,16631117,16618720,16585165,15522200,15489334,15345747,14574404,12477932,12216117,12194848,12125983,12100890,11498591,11127205,11071752,10867006,10729834,10381369,9730625,8530483,8404853,7706298,1614875 1581119,1581304,1581305,1581306 6659 NM_003107,AL136179,CH471087,AF070669,AF124147,AJ420500,BC072668,BM459088,BM822945,X65661,X70683 NP_003098,CAC03595,EAW55429,AAH72668,CAA46612,CAA50018,Q06945,ABZ92184 Hs.699195 GDB:250365 EVI16 protein-coding 1603322 SOX5 SRY (sex determining region Y)-box 5 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. 8812465,17554380,17230535,15489334,15231748,14702039,12477932,12406576,12194848,12100890,11912161,11585348,11071752,10729834,9755172,9373149,8889548,8125298,8078769,1614875 6660 NM_006940,NM_178010,AB081590,AB081591,AC069208,AC087244,AC087260,AC087312,AC087319,AC087322,AC090675,AC092773,AC092830,AC092864,AC112915,CH471094,AB081588,AB081589,AK074317,AK096569,AK098610,AK223536,BC014929,BC029220,BC035227,BC047665,NM_152989,BC060773,BC065532,BU675886,CR456713,S83308,X65662 NP_694534,NP_008871,NP_821078,BAC16235,BAC16236,EAW96486,EAW96487,EAW96488,EAW96489,EAW96490,EAW96491,EAW96492,BAC16233,BAC16234,BAB85048,BAC05353,BAD97256,AAH29220,AAH35227,AAH47665,AAH60773,CAG32994,AAB49537,CAA46613,P35711,Q53EV3,Q6IBT9 Hs.657542 GDB:5584271 L-SOX5|MGC35153 protein-coding 1345400 SOX5P SRY (sex determining region Y)-box 5 pseudogene 1580863 12194848,9827568,8812465 6661 NG_002726,AC005066,AC032002,AF032454 AAC94974,O95133 GDB:5584273 SOX29 pseudo 1319098 SOX6 SRY (sex determining region Y)-box 6 Members of the SOX gene family, such as SOX6, encode transcription factors defined by the conserved high mobility group (HMG) DNA-binding domain. Unlike most transcription factors, SOX transcription factors bind to the minor groove of DNA, causing a 70- to 85-degree bend and introducing local conformational changes (Cohen-Barak et al., 2001 [PubMed 11255018]).[supplied by OMIM] 1581307,1580007,1580863,1580857 1614875,11255018,15489336,17433257,16442531,16381901,15696972,15696967,14702039,14530442,12477932,11504872,11230166,11076863,10996314,10760285,9755172 1581307,1580007,1580857 55553 NM_033326,NM_017508,AC009869,AC013595,AC027016,AC068405,AC100865,AC103794,AF309471,AF309472,AF309473,AF309474,AF309475,AF309476,CH471064,AF309034,AK097455,AL136780,AL833302,BC029429,BC037866,BC047064,X65663 NP_201583,NP_059978,AAK26243,AAK26244,EAW68458,EAW68459,EAW68460,AAK26115,CAB66714,AAH47064,CAA46614,P35712,Q0JV52,CAL37472,CAL37608,CAL38234 Hs.368226 GDB:11507907 HSSOX6 protein-coding 1320707 SOX7 SRY (sex determining region Y)-box 7 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. 1580863 15489334,15231748,14702039,12477932,11691915,9373149,8125298 83595 NM_031439,AC105001,AJ409320,AK055556,AK223574,BC004299,BC071947,BE671627,BG740632,BT006693,BU187815 NP_113627,CAC84226,BAB70955,BAD97294,AAH71947,AAP35339,Q53ER5,Q53YD0,Q9BT81,Q9HAK1 Hs.490991 GDB:11507909 MGC10895 protein-coding 1319208 SOX8 SRY (sex determining region Y)-box 8 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). 1580863 10684944,10662550,16582099,15616553,15489334,14702039,12732652,12665801,12477932,11483257,11157797 30812 NM_014587,AC009041,AE006465,CH471112,Z99757,AF164104,AF226675,AK024491,BC031797,CR603537 NP_055402,AAK61260,EAW85691,EAW85692,CAB75612,AAF37424,AAF35886,BAB15781,AAH31797,P57073,Q9H7I9 Hs.243678 GDB:10796221 MGC24837 protein-coding 1322513 SOX9 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. 1599093,1580863 15240557,15192080,15077158,12935820,12783851,12732631,12713737,12673561,12477932,12420222,12381733,12136106,12128229,12111997,11990798,11754051,11707075,11356186,11331609,11323423,11076045,10951468,10446171,9774680,9724758,9569122,9143916,9002675,8894698,8640233,8348155,8001137,7990924,7747782,7485151,15889150,10805756,18339840,18333897,18087279,18077449,17935617,17702866,17615267,17551083,17532558,17409199,17360815,17289023,17234760,17197889,17050539,16791471,16554309,16155402,16109717,15922909,15908194,15896776,15781631,15694126,15623506,15489334,15456769,15266301,15240568 1599093 6662 NM_000346,AC007461,CH471099,CS025618,S74504,S74505,S74506,BC007951,BC018276,BC056420,BT006875,Z46629 NP_000337,EAW89102,CAI61686,AAB32870,AAH07951,AAH56420,AAP35521,CAA86598,P48436,Q53Y80 Hs.707993 GDB:134730 CMD1|CMPD1|SRA1 protein-coding 732035 SP1 Sp1 transcription factor 1580863 17958743,17938207,17927842,17920708,17916230,17894944,17893646,17890878,17855482,17851584,17804646,17705132,17698844,17689681,17681019,17670825,17656364,17652716,17616668,17609267,17600309,17597815,17540780,17530395,17384146,17373631,17343736,17321722,17311278,17307335,17297470,17289023,17287525,17272513,17264126,17224162,17215518,17202341,17192956,17161377,17046201,17026958,17014845,16965966,16964286,16964243,16943418,16883603,16879824,16815888,16807381,16807373,16806531,16760259,16740634,16734381,16728402,16715126,16714763,16714330,16690926,16677608,16675542,16672217,16671893,16631833,16603733,16582099,16575904,16565233,16529657,16516150,16442295,16413224,16410262,16378688,16377629,16361535,16339759,16304843,16260592,16260418,16248979,16245312,16158248,16118214,15998736,15987735,15979574,15970595,15955096,12091390,12088866,12077144,12055073,12054741,12052832,12050359,12034813,12021324,12004059,11997063,11988536,11970950,11914583,11909966,11904305,11896613,11884455,11867623,11856466,11853549,11850421,11844788,11842244,11839795,11839742,11796707,11585914,11432852,11294852,11274368,11237613,11114293,11022037,10987820,10976766,10973950,10919277,10878024,10850422,10825178,10816575,10809237,10747986,10720440,10704334,10681512,10644726,10644332,10547281,10506225,10471301,10457364,10446910,10393859,15951564,15908479,15907486,15905415,15878880,15863387,15850836,15828018,15821099,15816870,15790310,15788387,15777284,15760895,15735752,15709764,15706661,15694838,15691849,15666829,15665278,15650166,15647279,15637147,15563462,15531587,15528990,15528196,15523672,15489334,15468069,15466927,15466008,15462673,15367601,15345676,15342781,15339794,15302935,15302882,15282343,15247906,15217947,15194684,15180327,15118068,15117948,15111490,15100293,15094066,15084343,15064717,15033443,15024015,15001984,14977835,14970236,14766015,14744869,14744793,14742449,14701757,14676314,14670973,14660675,14652633,14645238,14608051,14568562,14561739,14532290,14514691,13680213,12972613,12954631,12943729,12933821,12911579,12888575,12855699,12855685,12847250,12847090,12818425,12811817,12804776,12769819,12753906,12748179,12732645,12730302,12694199,12682078,12670868,12665582,12665574,12664565,12642036,12634356,12624107,12615703,12612060,12576329,12569082,12560236,12513689,12509426,12485937,12477932,12475396,12466967,12458222,12439750,12433697,12427542,12421830,12384434,12379120,12378384,12359731,12358602,12324467,12297462,12239153,12228247,12228234,12221105,12213324,12200149,12186868,12151407,12151347,12134007,12133007,12105191,10362258,10361124,10224053,10215616,10103059,10089212,10082523,9915847,9882443,9819401,9748305,9742090,9694791,9685344,9651398,9566873,9535906,9525610,9525578,9492043,9472608,9388268,9372921,9353275,9343410,9329821,9278494,9271438,9153193,9121429,9065444,8849451,8845379,8800208,8668525,8657142,8657141,8628270,8626793,8422676,8411386,8404040,8244404,3139301,10816420,10393239,12169688,14580349,12560508,18328811,18261712,18258854,18243132,18226133,18195733,18192274,18171990,18165235,18068676,18065760,18064606,18053794,18034423,18031462,17965828,8230415,8207805,7933095,7732011,7690421,7666561,7622044,7621073,7592727,7565695,7559627,7541039,3319186,2657100,2512012,1924310,1912570,1662663,1583736,17150965,16120388,15725353,15353294,15142377,15869407,11018012,12176973,14623863,10617653,12706836,15661808,15838506,15780936,8327494,15574328,15837427,15619633,15019994,15674334,15550242,14657503 6667 AB039286,AC068889,AC073611,AF255681,AF261690,CH471054,AB209678,AF252284,AF255682,AI282745,AJ272134,AL442093,BC012008,BC043224,BC062539,BC078158,BF434304,BF436290,BF671559,BM463205,BQ072120,BQ431320,BQ774060,CD104746,J03133,NM_138473 NP_612482,BAB13476,AAF78780,AAF75063,EAW96698,EAW96699,EAW96700,BAD92915,AAF67726,AAF78781,CAB75345,AAH12008,AAH43224,AAH62539,AAA61154,P08047,Q59EY3,Q96ER4,Q9NR52 Hs.620754,Hs.649191 GDB:127453 protein-coding 1348100 SP100 SP100 nuclear antigen 1580863 9636147,2258622,9230084,17332504,17081983,17000644,16873258,16415175,16344560,16189514,16177824,15882967,15592518,15489334,15247905,15231748,14702039,14647468,12477932,11909962,11574059,8810287,8695863,11313457,10921892,10766566,10212234,9973607,9636146,9412458 6672 L79987,L79988,L79989,M60618,U36501,NM_001080391,NM_003113,AC009949,AC010149,AF076675,AF146342,AF378670,CH471063,X95472,AF056322,AF255565,AI886092,AK090565,AK091898,AK126529,AK160379,AW978040,BC011562,CR601757,CR613678,CR749288,DA562355,L79986 AAL77441,AAL77439,AAL77438,AAL77440,AAA35537,AAC50743,P23497,Q4ZG64,Q53TD0,Q68DS7,Q6ZMK3,Q8TE33,Q8TE34,Q9P0W1,NP_001073860,NP_003104,AAX88870,AAY14879,AAF39781,AAF43098,AAK57703,EAW70927,EAW70928,EAW70929,CAA64744,AAC39790,AAK51202,BAD18722,AAH11562,CAH18143 Hs.369056 GDB:127601 DKFZp686E07254|FLJ00340|FLJ34579 nuclear antigen sp100 protein-coding 1320919 SP110 SP110 nuclear body protein The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. 1580863 7693701,17883869,17510920,17287948,17149599,16960008,16816019,16803959,16648851,16344560,15489334,15308735,15063762,14559998,12539042,12477932,10913195,10388521 3431 NM_004509,BC019059,BG231996,CR625933,DA958469,DB474530,L22343,NM_080424,NM_004510,AC009950,CH471063,DQ124709,DQ124712,DQ124713,DQ124714,DQ124715,AF280094,AF280095,AK026488,AK128274,AL579921,AL832300,BC012447 AAH19059,AAD13402,Q2I9L9,Q2I9M0,NP_004500,NP_536349,NP_004501,AAX93281,EAW70915,EAW70916,EAW70917,EAW70918,EAW70919,AAZ23281,AAZ23282,AAZ23283,AAZ23284,AAZ23285,AAF99318,AAG09826,BAC87362,Q2I9M1,Q2I9M2,Q2I9M3,Q53TG2,Q6PJR6,Q6ZRE8,Q9HB58,AAH12447 Hs.145150 GDB:266530 FLJ22835|IFI41|IFI75|IPR1|VODI protein-coding 1314926 SP140 SP140 nuclear body protein 1580863 8695863,8910577,12477932,12368356,12887892 11262 NM_007237,NM_001005176,AC009949,AC009950,CH471063,AA741304,BC038091,BC054890,BC070160,BC105743,BC105744,BC105960,U36499,U36500,U63420 NP_009168,NP_001005176,AAX88868,AAX93282,EAW70920,EAW70921,EAW70922,AAH38091,AAH54890,AAH70160,AAI05744,AAI05745,AAI05961,AAB18616,AAC50817,Q0VGE4,Q0VGE5,Q13342,Q3KR17,Q4ZG66,Q53TG1,Q6NSG4,Q7Z2U4,Q8IWJ1,AAB18617 Hs.632549 GDB:5347156 LYSP100|LYSP100-A|LYSP100-B|MGC126440 protein-coding 1347414 SP2 Sp2 transcription factor This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. 1580863 1341900,17071613,16467376,16201967,15953604,15788387,15489334,15126343,14726517,14702039,12477932,10547281,10454592,9730617,7584044 6668 NM_003110,AC018521,CH471109,AK097532,BC005914,BC016680,BC033814,D28588,DB451570,M97190 NP_003101,EAW94782,EAW94783,EAW94784,EAW94785,EAW94786,EAW94787,AAH05914,AAH16680,AAH33814,BAA05923,AAA36629,Q02086,Q9BRW5 Hs.514276 GDB:135714 protein-coding 1319818 SP3 Sp3 transcription factor This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. 1580863 14667819,16696853,9278495,12560508,18195733,18065760,17894944,17698844,17681019,17652716,17616668,17548428,17540780,17343736,17297470,17241874,16965966,16807381,16806531,16760259,16677608,16672217,16671893,16603733,16574784,16529657,16339759,16150893,16081043,16024108,15987735,15979574,15951564,15831526,15821099,15816870,15790310,15777284,15747776,15706661,15666829,15572681,15523672,15494207,15489334,15474306,15466927,15247906,15247228,15118068,15111490,15107420,14970236,14767558,14767471,14766015,14742449,14697235,14645238,14623259,14608051,12972613,12943729,12911579,12855685,12837748,12818425,12730302,12694199,12664565,12576329,12509426,12477932,12419227,12411611,12378384,12356736,12297462,12297010,12186868,12176973,12151407,12133007,12071960,12054741,12004059,11867623,11850421,11839742,11796707,11773047,11447232,11237613,10816575,10547281,9388268,9329821,9224612,8938460,8896459,8845379,7800480,7732011,1454515,1341900,15869407,12091390,15619633,15780936,15546615 6670 NM_003111,AC016737,AC093399,AF494280,AY251018,CH471058,AA706229,AB209334,AJ310752,AW204666,AW295583,AY070137,AY441957,AY441958,BC042945,BC126414,NM_001017371,BX648857,CR749323,M97191,X68560 NP_001017371,NP_003102,AAM12875,AAP03059,EAX11152,EAX11153,EAX11154,EAX11155,BAD92571,CAC34575,AAL58086,AAL58087,AAL58088,AAR30505,AAR30506,AAH42945,AAI26415,CAH18178,AAA36630,CAA48562,Q02447,Q59FX5,Q68DP2,Q86TP0,Q8WWU2,Q8WWU3 Hs.531587 GDB:135715 DKFZp686O1631|SPR-2 protein-coding 731794 SP4 Sp4 transcription factor 1581308,1581309,1580019,1580863 7559627,12560508,17356515,16574784,15788387,15345676,12853948,12477932,12107411,11943774,11438531,11007485,10570957,7800480,7607696,1454515,12004059,10547281 1581308,1581309,1580019 6671 NM_003112,CH236948,CH471073,AK289728,BC015512,BC109300,BC109301,BQ639622,X68561 NP_003103,EAW93733,BAF82417,AAI09301,AAI09302,CAA48563,Q02446,Q32M51,Q32M52,ABZ92432 Hs.88013 GDB:136781 HF1B|MGC130008|MGC130009|SPR-1 protein-coding 1318302 SP5 Sp5 transcription factor 16380080,15820306,12477932 389058 Q6BEB4,Q6NTF6 NM_001003845,AC007405,CH471058,AB096175,BC069026 NP_001003845,EAX11238,EAX11239,BAD34944,AAH69026,Q6BEB4,Q6NTF6 Hs.368802 protein-coding 1315575 SP6 Sp6 transcription factor SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM] 15489334,14551215,12477932,11087666 80320 NM_199262,AC018521,CH471109,AK127707,AK127850,BC103951,BC103952,BC103953,BC103954 NP_954871,EAW94789,AAI03952,AAI03953,AAI03954,AAI03955,Q3SY56 Hs.253603 GDB:11507911 EPFN|EPIPROFIN|KLF14|MGC119662|MGC119663|MGC119664|MGC119665 protein-coding 736995 SP7 Sp7 transcription factor SP7 is a C2H2-type zinc finger transcription factor of the SP gene family and a putative master regulator of bone cell differentiation (Gao et al., 2004 [PubMed 15474293]).[supplied by OMIM] 727208,1580863 17352693,17311298,17303075,17206379,16467978,15489334,15474293,14604442,12674332,12477932,11792318 727208 121340 NM_152860,AC073611,CH471054,AF466179,AF477981,AK128520,AY150673,AY150674,BC101549,BC113613 NP_690599,EAW96695,EAW96696,EAW96697,AAO33377,AAL84281,AAN85556,AAN85557,AAI01550,AAI13614,Q7Z718,Q8TDD2,ABZ92092 Hs.209402 GDB:11510594 MGC126598|OSX|osterix protein-coding 1316919 SP8 Sp8 transcription factor 1580863 15533246,15489334,14702039,14597661,12477932 221833 NM_182700,NM_198956,AC005060,AC005251,CH236948,CH471073,AK056857,AY167047,AY167048,BC038669 NP_874359,NP_945194,EAW93729,EAW93730,EAW93731,EAW93732,BAB71297,AAO38028,AAO38029,AAH38669,Q4G0T0,Q7Z615,Q8IXZ3 Hs.195922 GDB:11510596 BTD protein-coding 1353517 SPA17 sperm autoantigenic protein 17 This gene encodes a protein present at the cell surface. Studies in rabbit suggest that in sperm the protein is involved in fertilization by binding to the zona pellucida of the oocyte. Other studies in rabbit suggest that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. 1580863 12739786,12530914,12477932,12393185,12213290,11415432,10591629,9378618,7578682,7525387,8688458,17230514,15489334,15381930,15257753,14712480,14566839 53340 NM_017425,AF334810,AP000890,AP001524,CH471065,AF334735,BC019224,BC032457,CR602938,CR625142 NP_059121,AAK28125,EAW67592,AAK20878,AAH19224,AAH32457,Q05D07,Q15506 Hs.286233 GDB:9992785 SP17|SP17-1 protein-coding 1351516 SPA17P1 sperm autoantigenic protein 17 pseudogene 1 12393185 171424 NG_001328,AC010997,AF335424 Sp17-2 pseudo 1344211 SPACA1 sperm acrosome associated 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. 12477932,15489334,14574404,11870081,10898932,10735589 81833 NM_030960,AL136096,CH471051,AF203447,BC029488 NP_112222,CAI19915,EAW48577,AAG31422,AAH29488,Q9HBV2 Hs.161241 GDB:11508481 MGC32952|SAMP32 protein-coding 1315441 SPACA3 sperm acrosome associated 3 1580863 16150577,5154881,11591365,3470418,16014814,15489334,15475442,12975309,12606493,12477932 124912 NM_173847,AC003687,AF099029,CH471147,AF216311,AY358653,BC029867,BC100886,BC100887 NP_776246,AAP97222,EAW80217,EAW80218,AAK01478,AAQ89016,AAH29867,AAI00887,AAI00888,Q8IXA5 Hs.434112 GDB:11505509 1700025M08Rik|ALLP17|LYC3|LYZL3|MGC119058|SLLP1 protein-coding 1343720 SPACA4 sperm acrosome associated 4 15489334,12975309,12788941,12477932 171169 AC022154,NM_133498,CH471177,CS072277,AF353721,AY358387,BC047334 NP_598005,EAW52357,CAI93415,AAL83950,AAQ88753,AAH47334,Q8TDM5 Hs.122599 GDB:11508857 SAMP14 protein-coding 1346531 SPACA5 sperm acrosome associated 5 16382448,12975309 389852 NM_205856,AX359709,CH471164,Z98304,AF217622,AY358844,BX279755 NP_995328,CAD23344,EAW59341,CAC41950,AAQ13890,AAQ89203,Q96QH8 Hs.319319 LYC5|LYZL5|SLLP2|UNQ6288|dJ54B20.3 protein-coding 1603416 SPACA5B sperm acrosome associated 5B 16382448,15772651,12975309 729201 NM_001079900,AL356464,AF217622,AY358844 NP_001073369,CAI40526,AAQ13890,AAQ89203,Q96QH8 Hs.319319,Hs.706266 protein-coding 1321762 SPAG1 sperm associated antigen 1 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. 1580863 15489334,14702039,12846798,12509440,12477932,11517287,10527845,9138444,8889548,8849440,1299558,16983343,16368546 6674 NM_172218,NM_003114,AC025647,CH471060,AF311312,AK057482,BC055091,BM981630 NP_757367,NP_003105,EAW91800,EAW91801,EAW91802,EAW91803,EAW91804,EAW91805,EAW91806,AAG23967,AAH55091,Q07617 Hs.591866 GDB:4568277 FLJ32920|HSD-3.8|SP75|TPIS protein-coding 1352459 SPAG10 sperm associated antigen 10 1580863 9546740 54740 Y11718 CAA72405,P78328 GDB:11508672 hP47 protein-coding 1604666 SPAG11A sperm associated antigen 11A 16421571,12477932,11259252,10698202,8167223 653423 NM_001081552,XM_001713749,AC130365,AF168618,AF168619,AF168620,AF170797,BC058833,BC125141 NP_001075021,XP_001713801,AAF37188,AAF37189,AAF37190,AAF37191,AAH58833,Q6PDA7 Hs.559506 HE2 protein-coding 1352554 SPAG11B sperm associated antigen 11B This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. 1580863 8167223,10698202,15229135,14662784,12477932,12193388,11259252,10819450,8418812,1693137 10407 AJ635328,NM_058202,NM_058200,NM_058201,NM_016512,NM_058207,NM_058206,NM_058203,AC130360,AY005129,AA694479,AF168616,AF168617,AJ628017 CAF31328,CAG25732,Q08648,Q08AJ8,Q9H4P9,NP_478109,NP_478107,NP_478108,NP_057596,NP_478114,NP_478113,NP_478110,AAG21878,AAG21879,AAG21880,AAG21881,AAG21882,AAG21883,AAG21884,AAG21885,AAG21886,AAF37186,AAF37187,AAI60085 Hs.2717 GDB:9956904 EP2|EP2C|EP2D|HE2|HE2C|MGC61846|SPAG11 sperm associated antigen 11 protein-coding 1352269 SPAG16 sperm associated antigen 16 1580863 15489334,14702039,12477932,12391165,11867345 79582 NM_024532,NM_001025436,AC008169,AC008279,AC009964,AC024246,AC064841,AC079610,AC092618,AC093042,AC096565,AC098486,AC107218,AC114499,AC125244,AC131096,CH471063,AL832962,BC009614,BC025379,AF310672,AF426740,AF490390,AK026377,AK095036,BC067756,BC100282,CR457359,CR596922,CR611626,CR749477 NP_078808,NP_001020607,AAX93092,AAY14888,AAY24171,AAX93264,AAX93125,AAX93063,AAY24242,EAW70515,BAC04481,CAH56274,AAH09614,AAM63956,AAN63530,AAM97147,BAB15466,AAH25379,AAH67756,AAI00283,CAG33640,CAH18307,Q498B7,Q4G1A2,Q53QP6,Q53R35,Q53RF0,Q53RV6,Q53SC3,Q53TF1,Q53TL7,Q8N0X2 Hs.602792,Hs.694845 DKFZp666P1710|FLJ22724|FLJ37717|MGC87036|PF20|WDR29 protein-coding 1601710 SPAG17 sperm associated antigen 17 15827353,14702039,12477932 200162 NM_206996,AL121993,AL139345,AL513191,AK091816,AK126319,AK126327,AL137581,AL833485,AY555274,BC043251,BX648110 NP_996879,CAI22736,CAI22740,BAC03753,CAB70823,AAS66753,Q5T9Y7,Q6Q759 Hs.528821 DKFZp434B0610|FLJ34497|FLJ44343|FLJ44353|PF6|RP4-776P7.2 protein-coding 734255 SPAG4 sperm associated antigen 4 The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. 730131,1580863 9691178,14614621,12477932,11780052,11076863,10373309 730131 6676 NM_003116,AF043344,AF262993,AL109827,CH471077,AF262992 NP_003107,AAC32052,AAF75268,CAB87609,CAI20118,EAW76191,AAF75267,Q9NPE6,AAI11379 Hs.123159 GDB:9834160 sperm antigen 4 protein-coding 1314928 SPAG4L sperm associated antigen 4-like 1580863 12621555,15489334,14702039,12477932,11988320,11780052,10373309,9691178 140732 NM_080675,AL121756,AL139826,CH471077,AF401350,AK097733,BC026118,BC029528 NP_542406,CAC29360,CAC29361,CAI22528,CAI16148,EAW76342,EAW76343,EAW76344,EAW76345,AAM90665,AAH26118,AAH29528,Q5TDX8,Q5TDX9,Q8TC36 Hs.375186 GDB:11507913 MGC33594|TSARG4|dJ726C3.1 protein-coding 736242 SPAG5 sperm associated antigen 5 This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. 1580863 15504738,18361916,18055457,17383637,16565220,16546135,15489334,12477932,12356910,11724960,11549262,11468777,10531379 10615 NM_006461,AC005726,CH471159,AF063308,AF345347,AF399910,AK025725,AK292398,AL122116,AL137585,BC000322,BC113055,BI459711,BQ773438 NP_006452,EAW51106,AAD02813,AAL06396,AAK91712,BAF85087,CAB59275,CAB70827,AAH00322,AAI13056,Q96R06 Hs.514033 GDB:9958024 DEEPEST|MAP126|hMAP126 protein-coding 1313749 SPAG6 sperm associated antigen 6 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. 1580863 10493827,16381901,15489336,15489334,15164054,12509440,12477932,12391165,12167721,11230166,11076863,10684790,9295136,9138444 9576 NM_012443,NM_172242,AL158211,AL513128,CH471072,AF079363,AK289903,AL080136,BC030585,BI561430,CR533552,CR591720 NP_036575,NP_758442,CAI15961,CAI15962,CAI15963,CAH72208,CAH72209,CAH72210,EAW86143,EAW86144,EAW86145,EAW86146,EAW86147,AAC32590,BAF82592,CAB45730,AAH30585,CAG38583,O75602,Q0JV84,Q0JVA8,CAL37552,CAL37576,ABM81842,ABM84993 Hs.655170 GDB:9957396 DKFZp434I153|MGC26276|Repro-SA-1|pf16 protein-coding 1313520 SPAG7 sperm associated antigen 7 1298632,1580863 14667819,15489334,15342556,12477932,11042152,9653160,7624517,16189514 1298632 9552 NM_004890,AC004771,AC109333,AF047437,AK123065,BC007819,BC011934,BP308951,CR590004,CR598182 NP_004881,AAC39888,AAH11934,O75391 Hs.90436 GDB:9957324 ACRP|FSA-1|MGC20134 protein-coding 1316057 SPAG8 sperm associated antigen 8 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. 8788182,17187156,15489334,15164053,15014887,12477932,11111873,11111865,10500252,9138444,8889548 26206 NM_172312,NM_001039592,AL133410,CH471071,AI028727,BC019247,BI757195,CA314354,CR599473,S83157,U12978 NP_758516,NP_001034681,CAI10989,EAW58335,EAW58336,AAH19247,AAB46833,AAA21129,Q99932,ABM81724,ABW03304 Hs.256747 GDB:11504383 BS-84|HSD-1|MGC26201|SMP1|SPAG3|hSMP-1 protein-coding 1322667 SPAG9 sperm associated antigen 9 Extracellular signals are transduced into cells through mitogen-activated protein kinases. The structural organization of these kinases into specific signaling domains is facilitated by scaffolding proteins involved in closely tethering different kinases so that successive phosphorylation events can occur. The protein encoded by this gene is a scaffolding protein that brings together mitogen-activated protein kinases and their transcription factor targets for the activation of specific signaling pathways. This gene which is abundantly expressed in testicular haploid germ cells encodes a protein that is recognized by sperm-agglutinating antibodies and implicated in infertility. 14743216,9480848,17081983,16959808,16356479,16112646,16077255,15693750,15489334,15302935,15144186,14702039,14662895,12477932,12391307,12168954,10557099,9628581,17353931,16189514 9043 AB011088,AF327452,AF542172,AK023512,AK024068,AK091921,AK129652,AY219897,AY219898,AY236487,AY850123,BC007524,BC059946,BC106048,BC146755,BC153878,X91879,NM_003971,AC005839,AC005920,CH471109 EAW94574,BAA25442,AAN61565,AAQ11383,BAB14812,AAO66462,AAO66463,AAP74807,AAX47276,AAH07524,AAH59946,AAI06049,AAI46756,AAI53879,CAA62987,O60271,Q5JB53,Q719J0,Q7Z5Q8,NP_003962,EAW94569,EAW94570,EAW94571,EAW94572,EAW94573 Hs.463439,Hs.593620 GDB:9958697 FLJ13450|FLJ14006|FLJ26141|FLJ34602|HLC4|HSS|JLP|KIAA0516|MGC117291|MGC14967|MGC74461|PHET|PIG6 protein-coding 1347791 SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple protein isoforms are encoded by transcript variants of this gene. 1580863 8195297,15804358,12932297,12853948,12690205,12477932,11731269,11731267,11114590,10493834,8575780,8282124,8234258,2269661 6677 NM_003117,NM_153189,AC004690,CH236947,CH471070,AK292229,AY920278,AY920279,AY920280,AY920281,BC026163,BI831525,L13779,L13781,S67798,X84347 NP_003108,NP_694859,AAQ96882,EAL24329,EAL24330,EAW83604,EAW83605,EAW83606,BAF84918,AAX13985,AAX13986,AAX13987,AAX13988,AAH26163,AAC60607,CAA59086,P38567,Q5D1J4,Q8TC30,ABM82583,ABM85770 Hs.121494 GDB:304760 HYA1|HYAL1|HYAL3|HYAL5|MGC26532|PH-20|PH20|SPAG15 protein-coding 1342995 SPANXA1 sperm protein associated with the nucleus, X-linked, family member A1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. 1580863 10906052,16390498,16251457,15772651,15489334,14734458,12758128,12477932,11133693 30014 NM_013453,AL121881,AY787087,AY787093,AY787094,AY787097,AY787101,AY787112,AY787115,AY787117,AY787118,AY787120,AY787123,AY787129,AY920983,AY920984,CH471170,DQ994201,DQ994202,DQ994203,DQ994204,DQ994205,AY920744,AY920745,AY920746,BC069393,BC069816,AY920743,DQ994206,DQ994207,DQ994208,DQ994209,DQ994210,DQ994212,DQ994226,DQ994230,DQ994232,EF101643,EF101650,AF098306,AY920732,AY920733,AY920735,AY920736,AY920737,AY920738,AY920739,AY920741,AY920742 NP_038481,CAD19068,AAW47311,AAW47315,AAW47316,AAW47319,AAW47323,AAW47334,AAW47337,AAW47339,AAW47340,AAW47342,AAW47345,AAW47347,AAY18686,AAY18687,EAW78007,ABN68940,ABN68941,ABN68942,ABN68943,ABN68944,AAY16559,AAY16560,AAY16561,AAY16562,AAH69393,AAH69816,Q32WI7,Q32WJ6,Q32WM2,Q4KRI2,Q4KRP5,Q4KRP8,Q9NS26,AAI41463,AAI48760,ABN68945,ABN68946,ABN68947,ABN68948,ABN68949,ABK19853,ABK19867,ABK19871,ABK19873,ABK96950,ABK96957,AAF28420,AAY16548,AAY16549,AAY16551,AAY16552,AAY16553,AAY16554,AAY16555,AAY16557,AAY16558 Hs.334464 GDB:10796223 NAP-X|SPAN-Xa|SPAN-Xb|SPANX|SPANX-A2|SPANX-C|SPANX-D|SPANXA2|SPANXC|SPANXD protein-coding 1351593 SPANXA2 SPANX family, member A2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. 12477932,11133693,10906052 728712 AY920739,AY920741,AY920742,AY920743,AY920744,AY920745,AY920746,BC069393,BC069816,CB113891,NM_145662,AJ457794,AL121881,AF098306,AI808260,AY920732,AY920733,AY920735,AY920736,AY920737,AY920738 AAY16555,AAY16557,AAY16558,AAY16559,AAY16560,AAY16561,AAY16562,AAH69393,AAH69816,ABZ92539,NP_663695,CAD29843,CAI42369,AAF28420,AAY16548,AAY16549,AAY16551,AAY16552,AAY16553,AAY16554 Hs.334464,Hs.375036,Hs.711784 GDB:10797338 SPANX|SPANXA protein-coding 1353572 SPANXB1 SPANX family, member B1 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B2, which appears to be a duplication of the B1 locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. 1580863 10906052,16251457,15489334,12758128,12477932,12393489,11133693 728695 AY787083,AY787085,AY787090,AY787092,AY787127,AY787130,AY787632,AF098307,BC034472,AL031078,AY787057,AY787058,AY787059,AY787060,AY787061,AY787062,AY787063,AY787064,AY787065,AY787066,AY787067,AY787068,AY787069,AY787070,AY787071,AY787072,AY787073,AY787074,AY787075,AY787076,AY787077,AY787078,AY787079,AY787080,AY787081,AY787082,NM_032461 AAW47373,AAW47374,AAW47375,AAW47376,AAW47377,AAW47380,AAW47382,AAW47383,AAF28421,AAH34472,Q32WN1,Q9NS25,ABM83256,ABM86460,NP_115850,CAI42717,AAW47348,AAW47349,AAW47350,AAW47351,AAW47352,AAW47353,AAW47354,AAW47355,AAW47356,AAW47357,AAW47358,AAW47359,AAW47360,AAW47361,AAW47362,AAW47363,AAW47364,AAW47365,AAW47366,AAW47367,AAW47368,AAW47369,AAW47370,AAW47371,AAW47372 Hs.434105,Hs.711489 GDB:11507915 B1|SPANX-B|SPANXB protein-coding 1343530 SPANXB2 SPANX family, member B2 Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-tail orientation with SPANX family member B1 and appears to be a duplication of that locus. The SPANXB genes are unique members of this gene family, since they contain an additional 18 nt in their coding region compared to the majority of family members. Although the protein encoded by this gene contains consensus nuclear localization signals, the major site for subcellular localization of expressed protein is in the cytoplasmic droplets of ejaculated spermatozoa. This protein provides a biochemical marker for studying the unique structures in spermatazoa, while attempting to further define its role in spermatogenesis. 10906052,17342728,16251457,15772651,15489334,12758128,11133693 100133171 XM_001713741,NM_145664,AJ457789,AL031078,AX972163,CH881887,AF098307,BC034472 XP_001713793,NP_663697,CAD29838,CAI42718,CAF17271,EAW50544,AAF28421,AAH34472,Q9NS25 Hs.434105 GDB:11507917 SPANX|SPANXB protein-coding 1350633 SPANXC SPANX family, member C Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. 1580863 10626816,16251457,15489334,15139967,12758128,12477932,11133693,9373149,8125298 64663 NM_022661,XM_001713760,AJ457790,AL109799,AY787084,AY787088,AY787089,AY787091,AY787095,AY787098,AY787099,AY787100,AY787103,AY787105,AY787106,AY787107,AY787108,AY787109,AY787111,AY787113,AY787114,DQ994231,DQ994236,DQ994237,DQ994238,DQ994239,EF101641,EF101644,EF101645,EF101646,EF101651,EF101654,EF101656,EF101659,AA412605,AJ238277,AK225988,BC054023,AY787116,AY787121,AY787122,AY787124,DQ994213,DQ994215,DQ994216,DQ994221,DQ994223,DQ994224,DQ994225,DQ994227,DQ994228,DQ994229 NP_073152,XP_001713812,CAD29839,CAI41662,AAW47309,AAW47312,AAW47313,AAW47314,AAW47317,AAW47320,AAW47321,AAW47322,AAW47325,AAW47327,AAW47328,AAW47329,AAW47330,AAW47331,AAW47333,AAW47335,AAW47336,ABK19870,ABK19872,ABK19877,ABK19878,ABK19879,ABK19880,ABK96948,ABK96951,ABK96952,ABK96953,ABK96958,ABK96961,ABK96966,CAB75344,AAH54023,A0FGV1,A0FGV4,A0FGW6,A0FGX0,Q9NY87,AAW47338,AAW47343,AAW47344,AAW47346,ABK19854,ABK19856,ABK19857,ABK19862,ABK19864,ABK19865,ABK19866,ABK96963,ABK19868,ABK19869 Hs.558533 GDB:10797336 C|CTp11|SPANX-C protein-coding 1347946 SPANXD SPANX family, member D Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. 1580863 16251457,12758128,12477932,11133693 64648 AY920945,AY920946,AY920947,AY920948,AY920949,AY920950,AY920951,AY920952,AY920953,AY920954,AY920955,AY920944,AJ457791,NM_032417,AL121881,AY920931,AY920933,AY920934,AY920935,AY920936,AY920937,AY920939,AY920940,AY920941,AY920942,AY920943,AY920985,AY920986,AY920987,AF312765,BC103961,BC121070,BC134418,AY920982,AY920956,AY920957,AY920958,AY920959,AY920960,AY920961,AY920962,AY920963,AY920965,AY920966,AY920967,AY920968,AY920969,AY920970,AY920971,AY920972,AY920973,AY920974,AY920975,AY920976,AY920977,AY920978,AY920979,AY920980,AY920981 AAY18647,AAY18648,AAY18649,AAY18650,AAY18651,AAY18652,AAY18653,AAY18654,AAY18655,AAY18656,AAY18657,AAY18658,CAD29840,NP_115793,CAI42368,AAY18634,AAY18636,AAY18637,AAY18638,AAY18639,AAY18640,AAY18642,AAY18643,AAY18644,AAY18645,AAY18646,AAY18685,AAY18688,AAY18689,AAY18690,AAK28485,AAI03962,AAI21071,AAI34419,Q4KRK2,Q4KRM8,Q4KRN4,Q4KRP2,Q9BXN6,AAY18659,AAY18660,AAY18661,AAY18662,AAY18663,AAY18664,AAY18665,AAY18666,AAY18668,AAY18669,AAY18670,AAY18671,AAY18672,AAY18673,AAY18674,AAY18675,AAY18676,AAY18677,AAY18678,AAY18679,AAY18680,AAY18681,AAY18682,AAY18683,AAY18684 Hs.375036 GDB:11507919 MGC119769|SPANX-D|dJ171K16.1 protein-coding 1345465 SPANXE SPANX family, member E Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that contains a consensus nuclear localization signal but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. 1580863 16251457,15489334,12758128,12477932,11133693 171489 NM_145665,AJ457792,AL121881,AY787086,AY787096,AY787102,AY787104,AY787110,AY787119,AY920932,AY920938,AY920964,DQ994211,DQ994214,DQ994217,DQ994218,DQ994219,DQ994220,DQ994233,DQ994234,DQ994235,EF101635,EF101636,EF101639,EF101642,EF101647,EF101648,EF101649,EF101652,EF101653,EF101657,EF101658,AJ457795,AY920734,AY920740,BC005382,BC062672 NP_663698,CAD29841,AAW47310,AAW47318,AAW47324,AAW47326,AAW47332,AAW47341,AAY18635,AAY18641,AAY18667,ABK19852,ABK19855,ABK19858,ABK19859,ABK19860,ABK19861,ABK19874,ABK19875,ABK19876,ABK96942,ABK96943,ABK96946,ABK96949,ABK96954,ABK96955,ABK96956,ABK96959,ABK96960,ABK96964,ABK96965,CAD29844,AAY16550,AAY16556,AAH05382,AAH62672,Q8TAD1 Hs.375036 GDB:11507921 MGC71908|SPANX-A2|SPANX-C|SPANX-D|SPANXA2|SPANXD protein-coding 1601817 SPANXF1 SPANX family, member F1 171490 AJ457796,AJ457793 CAD29845,CAD29842,Q9NS25 Hs.434105 GDB:11507923 protein-coding 1349351 SPANXF2 SPANX family, member F2 171491 AL451048 GDB:11507925 1606621 SPANXN1 SPANX family, member N1 17012309,14973187 494118 NM_001009614,AL356499,AL713923,AY825029,DQ336118,DQ336119,DQ336120,DQ336121 NP_001009614,AAV97585,ABC61869,ABC61870,ABC61871,ABC61872,Q5VSR9 Hs.551270 SPANX-N1 protein-coding 1606620 SPANXN2 SPANX family, member N2 17012309,14973187 494119 NM_001009615,AL080239,AY825030,DQ336111,DQ336112,DQ336113,DQ336114,DQ336115 NP_001009615,CAI41652,AAV97586,ABC61862,ABC61863,ABC61864,ABC61865,ABC61866,Q5MJ10,AAI46379,AAI46547 Hs.535083 SPANX-N2 protein-coding 1603581 SPANXN3 SPANX family, member N3 17012309,14973187,12477932 139067 NM_001009609,AL030997,AL080239,AY825031,CH471170,BC062750,DQ336128,DQ336129 NP_001009609,CAI41648,AAV97587,EAW78017,AAH62750,ABC61879,ABC61880,Q5MJ09 Hs.447320 SPANX-N3 protein-coding 1604672 SPANXN4 SPANX family, member N4 17012309,14973187,12477932 441525 NM_001009613,AL137840,AY825032,BC130503,BC130505,DQ336126,DQ336127 NP_001009613,CAH71622,AAV97588,AAI30504,AAI30506,ABC61877,ABC61878,Q5MJ08 Hs.535082 SPANX-N4 protein-coding 1606617 SPANXN5 SPANX family, member N5 17012309,14973187 494197 NM_001009616,AL445236,AY825033,AL039107 NP_001009616,CAI41620,AAV97589,Q5MJ07,AAI46365,AAI56578 Hs.535218 SPANX-N5 protein-coding 1350741 SPAR surfactant protein A binding protein 1580863 8360162 9981 L10123 AAA36632,Q15509 GDB:5278894 SFTPABP protein-coding 731035 SPARC secreted protein, acidic, cysteine-rich (osteonectin) Secreted protein acidic and rich in cysteine/osteonectin/BM40, or SPARC, is a matrix-associated protein that elicits changes in cell shape, inhibits cell-cycle progression, and influences the synthesis of extracellular matrix (ECM) (Bradshaw et al., 2003 [PubMed 12721366]).[supplied by OMIM] 1580863 15838642,15795937,15763439,15763438,15756262,15641096,15558074,15546965,15489334,15480132,15469933,15389586,15246191,15034927,15014008,14702039,14500371,12879219,12867428,12721366,12658547,12477932,12428242,12427131,12402984,12370830,12201246,12169206,11956183,11856645,11782382,11716067,11554745,11445660,10937551,10880278,10801822,10756178,10567433,9792673,9501084,9457905,9284812,9233787,8826089,8647860,8626499,8548457,8516290,16012759,7982919,7875683,7034958,15609325,1737102,14718574,18084690,18059024,17994631,17970686,17724718,17681430,17638862,17625595,17586526,17490812,17487382,17435158,17397030,17343824,17235047,17213807,17022822,16972886,16735494,16670288,16299239,16263253,16173048,16121393,7829101,7730416,7721952,7563094,7559469,6368555,3597437,3581152,3489235,3410046,3402455,3400777,2838412,2790009,2745554,2505905,2338025,2306517,1552170,1311092,1093755,16189514 6678 NM_003118,AC011374,CH471062,M25746,AK096969,AY545555,BC004974,BC008011,BC072457,CR456799,CR590539,CR591920,CR592148,CR592746,CR593385,CR595836,CR597190,CR598169,CR598340,CR602678,CR603121,CR604100,CR604469,CR604596,CR605054,CR606233,CR609302,CR609946,CR610277,CR611574,CR611642,CR611817,CR611867,CR612102,CR612789,CR613247,CR613457,CR615120,CR615879,CR616783,CR617910,CR619039,CR622084,CR623565,CR623752,CR625661,CR625859,CR626474,J03040,Y00755 NP_003109,EAW61667,EAW61668,EAW61669,EAW61670,EAW61671,EAW61672,AAA60993,AAS50152,AAH04974,AAH08011,AAH72457,CAG33080,AAA60570,CAA68724,P09486,Q6IBK4,Q6QE20,ABM84341,ABM87733 Hs.111779,Hs.708558 GDB:118733 ON protein-coding 736595 SPARCL1 SPARC-like 1 (mast9, hevin) 1580863 17825989,16844696,16335952,16316624,15231748,15146195,12538579,12477932,10735494,8626806,8488563,7600298 8404 NM_004684,AC093906,AC112250,CH471057,AL833430,AY513278,BC010383,BC022484,BC033721,BX647713,CR603739,CR624121,X82157,X86693 NP_004675,EAX05991,EAX05992,AAT08031,AAH33721,CAA57650,CAA60386,Q14515,Q8N4S1 Hs.62886 GDB:9865061 PIG33|SC1 sparc-like 1 protein-coding 1318293 SPAST spastin This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. 1580863,1358585 10610178,18202664,18190593,17971434,17957230,17916079,17895902,17720546,17690846,17598600,17597328,17594340,17560499,17420921,17389232,17345589,17100993,17098887,17035675,16828199,16826525,16815977,16788734,16684598,16682546,16602018,16339213,16240363,16055926,16026783,16009903,15939438,15891913,15858810,15841487,15739043,15537668,15482961,15345747,15326248,15269182,15248095,15210521,15159500,15147984,14732620,14681884,14656074,14506940,12939659,12925368,12876245,12778437,12743246,12736085,12676568,12552568,12490534,12471215,12460147,12202986,12163196,12161613,12124993,12023066,11985387,11843700,11809724,11704932,11309678,11087788,11039577,11015453,10980739,10699187,10493830,10470851 1358585 6683 NM_014946,NM_199436,AJ246003,AL121655,AL121658,CH471053,AA830062,AB029006,AJ246001,BC150260,BG532310 NP_055761,NP_955468,CAB60208,EAX00461,EAX00462,BAA83035,CAB60141,AAI50261,Q9UBP0 Hs.468091 GDB:230127 ADPSP|FSP2|KIAA1083|SPG4 spastic paraplegia 4 (autosomal dominant; spastin) protein-coding 1353083 SPATA1 spermatogenesis associated 1 12477932,11329013 64173 NM_001081472,AL359762,CH471097,AF306347,BC064144,BC119641,BC119642,BC127634,BG184610,CD300599 NP_001074941,CAH70205,CAM13069,EAW73234,EAW73235,AAG22047,AAH64144,AAI19642,AAI19643,AAI27635,Q0VDJ9,Q0VDK0,Q5VX52,Q6P386,Q9HAR4 Hs.584956 GDB:11508688 SP-2|SPAP1 protein-coding 1353232 SPATA12 spermatogenesis associated 12 17251597,15603706,15490870,15489334,12477932 353324 NM_181727,AC097358,CH471055,AY221117,BC033337,BC126274,BC136498 NP_859078,EAW65328,AAP50852,AAH33337,AAI26275,AAI36499,Q0P657,Q7Z6I5 Hs.129794 SRG5 protein-coding 1316520 SPATA13 spermatogenesis associated 13 1580863 17599059,17145773,15489334,15057823,14702039,12477932 221178 NM_153023,AL359736,CH471075,AK055770,AK074117,AK092754,AK097217,AK123031,AK160371,BC109290,BC109291,BK006072,BX648244 NP_694568,CAH72289,CAH72290,CAH72291,EAX08331,EAX08332,BAB71009,BAB84943,BAC03965,BAC04977,BAD18714,AAI09291,AAI09292,DAA05848,Q8NAF6,Q96N96 Hs.657121 ASEF2|FLJ31208|FLJ35435|MGC129988|MGC129989|RP11-307N16.3 protein-coding 1351808 SPATA16 spermatogenesis associated 16 737633,1580863 17847006,17665087,16372119,14702039,12529416,12477932 737633 83893 NM_031955,AC063933,AC092948,CH471052,DQ141866,DQ141867,DQ141868,DQ141869,DQ141870,DQ141871,DQ141872,DQ141873,DQ141874,DQ141934,DQ141935,DQ141936,DQ141937,DQ141944,DQ141945,DQ141946,DQ141947,DQ141948,DQ141949,DQ141950,DQ141951,DQ141952,DQ141985,DQ141986,DQ141987,DQ141988,DQ141989,DQ141990,DQ141991,DQ141876,DQ141877,DQ141878,DQ141879,DQ141880,DQ141881,DQ141882,DQ141883,DQ141884,DQ141885,DQ141886,DQ141887,DQ141888,DQ141889,DQ141890,DQ141891,DQ142138,DQ142139,DQ142140,DQ142141,DQ142142,DQ142143,DQ142144,DQ142145,DQ142146,DQ142147,DQ142148,DQ142149,DQ142150,DQ142151,DQ142152,DQ142153,DQ142154,DQ142155,DQ142156,DQ142157,DQ142158,DQ142159,DQ142160,DQ141992,DQ141993,DQ141994,DQ141995,DQ141996,DQ141997,DQ141998,DQ141999,DQ142000,DQ142001,DQ142002,DQ142003,DQ142004,DQ142005,DQ142006,DQ142007,DQ142008,DQ142009,DQ142010,DQ142011,DQ142012,DQ142013,DQ142014,DQ141984,DQ142022,DQ142023,DQ142024,DQ142025,DQ142026,DQ142027,DQ142028,DQ142029,DQ142030,DQ142031,DQ142032,DQ142033,DQ142034,DQ142035,DQ142036,DQ142037,DQ142038,DQ142039,DQ142040,DQ142041,DQ142042,DQ142043,DQ141875,DQ142137,DQ141892,DQ141893,DQ141894,DQ141895,DQ141896,DQ141897,DQ141898,DQ141899,DQ141900,DQ141901,DQ141902,DQ141903,DQ141904,DQ141905,DQ141906,DQ141907,DQ141908,DQ141909,DQ141910,DQ141911,DQ141912,DQ141913,DQ141914,DQ141915,DQ141916,DQ141917,DQ141918,DQ141919,DQ141920,DQ141921,DQ141922,DQ141923,DQ142104,DQ142105,DQ142106,DQ142107,DQ142108,DQ142109,DQ142110,DQ142111,DQ142112,DQ142113,DQ142114,DQ142115,DQ142044,DQ142045,DQ142046,DQ142047,DQ142048,DQ142049,DQ142050,DQ142051,DQ142052,DQ142053,DQ142054,DQ142055,DQ142056,DQ142057,DQ142058,DQ142015,DQ142084,DQ142085,DQ142086,DQ142087,DQ142088,DQ142089,DQ142090,DQ142091,DQ142092,DQ141924,DQ141925,DQ141926,DQ142093,DQ142100,DQ142101,DQ142102,DQ142103,DQ142083,DQ142117,DQ142118,DQ142060,DQ142061,DQ142062,DQ142063,DQ142064,DQ142065,DQ142066,DQ142067,DQ142068,DQ142069,DQ142070,DQ142071,DQ142072,DQ142073,DQ142074,DQ142075,DQ142076,DQ142077,DQ142078,DQ142079,DQ142080,DQ142081,DQ142082,DQ142059,DQ142119,DQ142120,DQ142121,DQ142122,DQ142123,DQ142124,DQ142125,DQ142126,DQ142127,DQ142128,DQ142129,DQ142130,DQ142131,DQ142132,DQ142133,DQ142134,DQ142135,DQ142136,DQ142116,DQ141954,DQ141955,DQ141956,DQ141957,DQ141927,DQ141928,DQ141929,DQ141930,DQ141931,DQ141932,DQ141933,DQ141958,DQ141959,DQ141960,DQ141961,DQ141962,DQ141963,DQ141964,DQ141965,DQ141966,DQ141967,DQ141968,DQ141969,DQ141970,DQ141971,DQ141972,DQ141973,DQ141974,DQ141975,DQ141976,DQ141977,DQ141978,DQ141979,DQ141980,DQ141981,DQ141982,DQ141983,DQ141953,DQ142161,DQ142162,DQ142163,DQ142164,DQ142165,DQ142166,DQ142167,DQ142168,DQ142169,DQ142170,DQ142171,DQ142178,DQ142179,DQ142180,DQ142181,DQ142182,DQ142183,DQ142184,DQ142185,DQ142186,DQ142187,DQ142188,DQ142189,DQ142190,DQ142191,DQ142192,DQ142193,DQ142194,DQ142195,DQ142196,DQ142197,DQ142198,DQ142199,DQ142200,DQ142201,DQ142202,DQ142203,DQ142204,DQ142205,DQ142206,DQ142207,DQ142208,DQ142209,DQ142210,DQ142211,DQ142212,DQ142213,DQ142214,DQ142215,DQ142216,DQ142266,DQ142267,DQ142324,DQ142325,DQ142326,DQ142327,DQ142334,DQ142335,DQ142336,DQ142337,DQ142338,DQ142339,DQ142340,DQ142341,DQ142342,DQ142343,DQ142344,DQ142345,DQ142346,DQ142347,DQ142348,DQ142349,DQ142350,DQ142351,DQ142352,DQ142353,DQ142354,DQ142355,DQ142356,DQ142357,DQ142358,DQ142359,DQ142360,DQ142361,DQ142362,DQ142363,DQ142364,DQ142365,DQ142366,DQ142367,DQ142368,DQ142369,DQ142268,DQ142269,DQ142270,DQ142271,DQ142272,DQ142273,DQ142274,DQ142275,DQ142276,DQ142277,DQ142278,DQ142279,DQ142280,DQ142281,DQ142282,DQ142283,DQ142284,DQ142285,DQ142286,DQ142287,DQ142288,DQ142289,DQ142290,DQ142291,DQ142292,DQ142293,DQ142294,DQ142295,DQ142296,DQ142297,DQ142298,DQ142299,DQ142300,DQ142301,DQ142302,DQ142303,DQ142304,DQ142305,DQ142306,DQ142307,DQ142308,DQ142309,DQ142310,DQ142311,DQ142312,DQ142313,DQ142314,DQ142315,DQ142316,DQ142317,DQ142318,DQ142319,DQ142320,DQ142321,DQ142322,DQ142323,DQ142443,DQ142444,DQ142370,DQ142371,DQ142372,DQ142373,DQ142374,DQ142375,DQ142376,DQ142377,DQ142378,DQ142379,DQ142380,DQ142381,DQ142382,DQ142383,DQ142384,DQ142385,DQ142386,DQ142387,DQ142388,DQ142389,DQ142390,DQ142391,DQ142514,DQ142515,DQ142516,DQ142517,DQ142518,DQ142519,DQ142520,DQ142521,DQ142522,DQ142523,DQ142524,DQ142525,DQ142526,DQ142527,DQ142528,DQ142529,DQ142530,DQ142531,DQ142532,DQ142533,DQ142534,DQ142535,DQ142536,DQ142537,DQ142538,DQ142539,DQ142540,DQ142541,DQ142542,DQ142543,DQ142544,DQ142545,DQ142546,DQ142547,DQ142548,DQ142549,DQ142550,DQ142551,DQ142552,DQ142553,DQ142445,DQ142446,DQ142447,DQ142448,DQ142449,DQ142450,DQ142451,DQ142452,DQ142453,DQ142454,DQ142455,DQ142456,DQ142457,DQ142458,DQ142459,DQ142460,DQ142461,DQ142462,DQ142463,DQ142464,DQ142465,DQ142466,DQ142467,DQ142468,DQ142469,DQ142470,DQ142471,DQ142472,DQ142473,DQ142474,DQ142475,DQ142476,DQ142477,DQ142478,DQ142479,DQ142480,DQ142481,DQ142482,DQ142483,DQ142491,DQ142495,DQ142496,DQ142497,DQ142498,DQ142499,DQ142500,DQ142501,DQ142502,DQ142503,DQ142504,DQ142505,DQ142506,DQ142507,DQ142508,DQ142509,DQ142510,DQ142511,DQ142512,DQ142513,DQ142582,DQ142583,DQ142554,DQ142555,DQ142556,DQ142557,DQ142558,DQ142559,DQ142560,DQ142561,DQ142568,DQ142569,DQ142570,DQ142571,DQ142572,DQ142573,DQ142574,DQ142575,DQ142576,DQ142577,DQ142578,DQ142579,DQ142580,DQ142581,DQ142584,DQ142585,DQ142586,DQ142587,DQ142588,DQ142589,DQ142590,DQ142591,DQ142592,DQ142593,DQ142594,DQ142595,DQ142596,DQ142597,DQ142598,DQ142599,DQ142600,DQ142601,DQ142602,DQ142603,DQ142604,DQ142605,DQ142606,DQ142607,DQ142608,DQ142609,DQ142610,DQ142611,DQ142612,DQ142613,DQ142614,DQ142615,DQ142616,DQ142617,DQ142618,DQ142619,DQ142620,DQ142621,DQ142622,DQ142623,DQ142624,DQ142625,DQ142626,DQ142627,DQ142628,DQ142629,DQ142630,DQ142631,DQ142632,DQ142633,DQ142634,DQ142635,DQ142636,DQ142637,DQ142638,DQ142639,AF345909,AF404758,AK093041,BC034496,DQ142217,DQ142218,DQ142219,DQ142220,DQ142221,DQ142222,DQ142223,DQ142224,DQ142225,DQ142226,DQ142227,DQ142228,DQ142229,DQ142230,DQ142231,DQ142232,DQ142233,DQ142234,DQ142235,DQ142236,DQ142237,DQ142238,DQ142239,DQ142240,DQ142241,DQ142242,DQ142243,DQ142244,DQ142245,DQ142246,DQ142247,DQ142248,DQ142249,DQ142256,DQ142257,DQ142258,DQ142259,DQ142260,DQ142261,DQ142262,DQ142263,DQ142264,DQ142265,DQ142392,DQ142393,DQ142394,DQ142395,DQ142396,DQ142397,DQ142398,DQ142399,DQ142400,DQ142401,DQ142402,DQ142403,DQ142404,DQ142405,DQ142412,DQ142413,DQ142414,DQ142415,DQ142416,DQ142417,DQ142418,DQ142419,DQ142420,DQ142421,DQ142422,DQ142423,DQ142424,DQ142425,DQ142426,DQ142427,DQ142428,DQ142429,DQ142430,DQ142431,DQ142432,DQ142433,DQ142434,DQ142435,DQ142436,DQ142437,DQ142438,DQ142439,DQ142440,DQ142441,DQ142442 NP_114161,EAW78459,ABA27447,ABA27448,ABA27449,ABA27450,ABA27451,ABA27452,ABA27453,ABA27454,ABA27455,ABA27514,ABA27515,ABA27516,ABA27507,ABA27517,ABA27518,ABA27519,ABA27520,ABA27521,ABA27522,ABA27523,ABA27524,ABA27525,ABA27526,ABA27527,ABA27559,ABA27560,ABA27561,ABA27562,ABA27563,ABA27564,ABA27565,ABA27566,ABA27456,ABA27457,ABA27458,ABA27459,ABA27460,ABA27461,ABA27462,ABA27463,ABA27464,ABA27465,ABA27466,ABA27467,ABA27468,ABA27469,ABA27470,ABA27471,ABA27700,ABA27701,ABA27702,ABA27703,ABA27704,ABA27705,ABA27706,ABA27707,ABA27708,ABA27709,ABA27710,ABA27711,ABA27712,ABA27713,ABA27714,ABA27715,ABA27716,ABA27717,ABA27718,ABA27719,ABA27720,ABA27721,ABA27722,ABA27723,ABA27567,ABA27568,ABA27569,ABA27570,ABA27571,ABA27572,ABA27573,ABA27574,ABA27575,ABA27576,ABA27577,ABA27578,ABA27579,ABA27580,ABA27581,ABA27582,ABA27583,ABA27584,ABA27585,ABA27586,ABA27587,ABA27588,ABA27589,ABA27590,ABA27591,ABA27592,ABA27593,ABA27594,ABA27595,ABA27596,ABA27597,ABA27598,ABA27599,ABA27600,ABA27601,ABA27602,ABA27603,ABA27604,ABA27605,ABA27606,ABA27607,ABA27608,ABA27609,ABA27610,ABA27611,ABA27472,ABA27473,ABA27474,ABA27475,ABA27476,ABA27477,ABA27478,ABA27479,ABA27480,ABA27481,ABA27482,ABA27483,ABA27484,ABA27485,ABA27486,ABA27487,ABA27488,ABA27489,ABA27490,ABA27491,ABA27492,ABA27493,ABA27494,ABA27495,ABA27496,ABA27497,ABA27498,ABA27499,ABA27500,ABA27501,ABA27502,ABA27503,ABA27504,ABA27667,ABA27668,ABA27669,ABA27670,ABA27671,ABA27672,ABA27673,ABA27674,ABA27675,ABA27676,ABA27677,ABA27678,ABA27666,ABA27612,ABA27613,ABA27614,ABA27615,ABA27616,ABA27617,ABA27618,ABA27619,ABA27620,ABA27621,ABA27622,ABA27623,ABA27624,ABA27625,ABA27626,ABA27627,ABA27652,ABA27653,ABA27654,ABA27655,ABA27656,ABA27657,ABA27658,ABA27659,ABA27660,ABA27661,ABA27505,ABA27506,ABA27662,ABA27663,ABA27664,ABA27665,ABA27679,ABA27680,ABA27628,ABA27629,ABA27630,ABA27631,ABA27632,ABA27633,ABA27634,ABA27635,ABA27636,ABA27637,ABA27638,ABA27639,ABA27640,ABA27641,ABA27642,ABA27643,ABA27644,ABA27645,ABA27646,ABA27647,ABA27648,ABA27649,ABA27650,ABA27651,ABA27681,ABA27682,ABA27683,ABA27684,ABA27685,ABA27686,ABA27687,ABA27688,ABA27689,ABA27690,ABA27691,ABA27692,ABA27693,ABA27694,ABA27695,ABA27696,ABA27697,ABA27698,ABA27699,ABA27528,ABA27529,ABA27530,ABA27531,ABA27508,ABA27509,ABA27510,ABA27511,ABA27512,ABA27513,ABA27532,ABA27533,ABA27534,ABA27535,ABA27536,ABA27537,ABA27538,ABA27539,ABA27540,ABA27541,ABA27542,ABA27543,ABA27544,ABA27545,ABA27546,ABA27547,ABA27548,ABA27549,ABA27550,ABA27551,ABA27552,ABA27553,ABA27554,ABA27555,ABA27556,ABA27557,ABA27558,ABA27725,ABA27726,ABA27727,ABA27728,ABA27729,ABA27730,ABA27731,ABA27732,ABA27733,ABA27734,ABA27735,ABA27736,ABA27737,ABA27738,ABA27739,ABA27740,ABA27741,ABA27742,ABA27724,ABA27743,ABA27744,ABA27745,ABA27746,ABA27747,ABA27748,ABA27749,ABA27750,ABA27751,ABA27752,ABA27753,ABA27754,ABA27755,ABA27756,ABA27757,ABA27758,ABA27759,ABA27760,ABA27761,ABA27762,ABA27763,ABA27764,ABA27765,ABA27766,ABA27767,ABA27768,ABA27769,ABA27770,ABA27771,ABA27772,ABA27773,ABA27816,ABA27817,ABA27875,ABA27876,ABA27877,ABA27878,ABA27879,ABA27880,ABA27881,ABA27882,ABA27883,ABA27884,ABA27885,ABA27886,ABA27887,ABA27888,ABA27889,ABA27890,ABA27891,ABA27892,ABA27893,ABA27894,ABA27895,ABA27896,ABA27897,ABA27898,ABA27899,ABA27900,ABA27901,ABA27902,ABA27903,ABA27904,ABA27905,ABA27906,ABA27907,ABA27908,ABA27909,ABA27910,ABA27911,ABA27912,ABA27913,ABA27914,ABA27818,ABA27819,ABA27820,ABA27821,ABA27822,ABA27823,ABA27824,ABA27825,ABA27826,ABA27827,ABA27828,ABA27829,ABA27830,ABA27831,ABA27832,ABA27833,ABA27834,ABA27835,ABA27836,ABA27837,ABA27838,ABA27839,ABA27840,ABA27841,ABA27842,ABA27843,ABA27844,ABA27845,ABA27846,ABA27847,ABA27848,ABA27849,ABA27850,ABA27851,ABA27852,ABA27853,ABA27854,ABA27855,ABA27856,ABA27857,ABA27858,ABA27859,ABA27860,ABA27861,ABA27862,ABA27863,ABA27864,ABA27865,ABA27866,ABA27867,ABA27868,ABA27869,ABA27870,ABA27871,ABA27872,ABA27873,ABA27874,ABA28125,ABA28126,ABA27915,ABA27916,ABA27917,ABA27918,ABA27919,ABA27920,ABA27921,ABA27922,ABA27923,ABA27924,ABA27925,ABA27926,ABA27927,ABA27928,ABA27929,ABA27930,ABA27931,ABA27932,ABA27933,ABA27934,ABA27935,ABA27975,ABA27976,ABA27977,ABA27978,ABA27979,ABA27980,ABA27981,ABA27982,ABA27983,ABA27984,ABA27985,ABA27986,ABA27987,ABA27988,ABA27989,ABA27990,ABA27991,ABA27992,ABA27993,ABA27994,ABA27995,ABA27996,ABA27997,ABA27998,ABA27999,ABA28000,ABA28001,ABA28002,ABA28003,ABA28004,ABA28005,ABA28006,ABA28007,ABA28008,ABA28009,ABA28010,ABA28011,ABA28012,ABA28013,ABA28014,ABA28127,ABA28128,ABA28129,ABA28130,ABA28131,ABA28132,ABA28133,ABA28134,ABA28135,ABA28136,ABA28137,ABA28138,ABA28139,ABA28140,ABA28141,ABA28142,ABA28143,ABA28144,ABA28145,ABA28146,ABA28147,ABA28148,ABA28149,ABA28150,ABA28151,ABA28152,ABA28153,ABA28154,ABA28155,ABA28156,ABA28157,ABA28158,ABA28159,ABA28160,ABA28161,ABA28162,ABA28163,ABA28164,ABA28165,ABA28166,ABA27952,ABA27956,ABA27957,ABA27958,ABA27959,ABA27960,ABA27961,ABA27962,ABA27963,ABA27964,ABA27965,ABA27966,ABA27967,ABA27968,ABA27969,ABA27970,ABA27971,ABA27972,ABA27973,ABA27974,ABA28036,ABA28037,ABA28015,ABA28016,ABA28017,ABA28018,ABA28019,ABA28020,ABA28021,ABA28022,ABA28023,ABA28024,ABA28025,ABA28026,ABA28027,ABA28028,ABA28029,ABA28030,ABA28031,ABA28032,ABA28033,ABA28034,ABA28035,AAH34496,ABA28038,ABA28039,ABA28040,ABA28041,ABA28042,ABA28043,ABA28044,ABA28045,ABA28046,ABA28047,ABA28048,ABA28049,ABA28050,ABA28051,ABA28052,ABA28053,ABA28054,ABA28055,ABA28056,ABA28057,ABA28058,ABA28059,ABA28060,ABA28061,ABA28062,ABA28063,ABA28064,ABA28065,ABA28066,ABA28067,ABA28068,ABA28069,ABA28070,ABA28071,ABA28072,ABA28073,ABA28074,ABA28075,ABA28076,ABA28077,ABA28078,ABA28079,ABA28080,ABA28081,ABA28082,ABA28083,ABA28084,ABA28085,ABA28086,ABA28087,ABA28088,ABA28089,ABA28090,ABA28091,ABA28092,ABA28093,ABA28094,AAK29063,AAK95642,ABA27774,ABA27775,ABA27776,ABA27777,ABA27778,ABA27779,ABA27780,ABA27781,ABA27782,ABA27783,ABA27784,ABA27785,ABA27786,ABA27787,ABA27788,ABA27789,ABA27790,ABA27791,ABA27792,ABA27793,ABA27794,ABA27795,ABA27796,ABA27797,ABA27798,ABA27799,ABA27800,ABA27801,ABA27802,ABA27803,ABA27804,ABA27805,ABA27806,ABA27807,ABA27808,ABA27809,ABA27810,ABA27811,ABA27812,ABA27813,ABA27814,ABA27815,ABA27936,ABA27937,ABA27938,ABA27939,ABA27940,ABA27941,ABA27942,ABA27943,ABA27944,ABA27945,ABA27946,ABA27947,ABA27948,ABA27949,ABA27950,ABA28095,ABA28096,ABA28097,ABA28098,ABA28099,ABA28100,ABA28101,ABA28102,ABA28103,ABA28104,ABA28105,ABA28106,ABA28107,ABA28108,ABA28109,ABA28110,ABA28111,ABA28112,ABA28113,ABA28114,ABA28115,ABA28116,ABA28117,ABA28118,ABA28119,ABA28120,ABA28121,ABA28122,ABA28123,ABA28124 Hs.444236 NYD-SP12 protein-coding 1604999 SPATA17 spermatogenesis associated 17 17081983,16710414,16395525,15489334,14702039,12477932 128153 NM_138796,AC097061,AL354659,AL445428,CH471100,AK098591,AY963797,BC014608,CR597267 NP_620151,CAH70665,EAW93332,BAC05343,AAY33662,AAH14608,Q96L03 Hs.171130 IQCH|MSRG-11|MSRG11|RP11-144C20.1 protein-coding 1606969 SPATA18 spermatogenesis associated 18 homolog (rat) 16088906,15489334,14702039,12477932 132671 NM_145263,AC093858,CH471057,AK057468,AK098625,BC025396,BC037886 NP_660306,EAX05432,EAX05433,BAB71501,BAC05356,AAH25396,AAH37886,Q8TC71,Q96M13 Hs.527090 FLJ32906 protein-coding 1606425 SPATA19 spermatogenesis associated 19 17081983,15489334,15302935,15139970,14702039,12688595,12477932 219938 NM_174927,AP001979,CH471065,AF521713,AK098717,BC058039 NP_777587,EAW67810,EAW67811,AAP80739,BAC05390,AAH58039,Q7Z5L4 Hs.97541 FLJ25851|SPAS1|spergen1 protein-coding 731260 SPATA2 spermatogenesis associated 2 1580863 12477932,11780052,9872452,8889548,14702039,12531478,10222154,16189514,15489334 9825 NM_006038,AL031685,CH471077,AB018300,AK023229,AK289644,BC009481,BU738682,CB992178,CR591290,CR612212,U28164 NP_006029,CAB46029,EAW75645,EAW75646,BAA34477,BAF82333,AAH09481,AAD28324,Q9UM82,ABM84411,ABM87411 Hs.48513 GDB:9958945 FLJ13167|KIAA0757|PD1|tamo protein-coding 1603970 SPATA20 spermatogenesis associated 20 15231747,15489334,15223837,14702039,12477932,9373149,8125298 64847 NM_022827,AC021491,CH471109,AF086245,AK025000,AK025622,AK092731,AK125807,AK225189,AK291805,AL137367,BC017468,BC025255,BC065526,BC111029,CR605871,CR936769,DQ238597 NP_073738,EAW94603,EAW94604,EAW94605,BAB15051,BAB15192,BAF84494,CAH56380,AAH17468,AAH25255,AAH65526,AAI11030,ABB54669,Q659D4,Q8TB22,Q9H6R1 Hs.103147 DKFZp686H1839|FLJ21347|FLJ21969|MGC111032|SSP411|Tisp78 protein-coding 1602628 SPATA21 spermatogenesis associated 21 12477932 374955 NM_198546,AL358794,CH471167,AK128106,AY327405,BC022039 NP_940948,EAW51779,BAC87278,AAP92797,AAH22039,Q5VXG6,Q6ZRN2,Q7Z572 Hs.705501 MGC27074|RP11-430L17.3|spergen-2|spergen2 protein-coding 1606760 SPATA22 spermatogenesis associated 22 15713825,15489334,12477932 84690 NM_032598,AC025125,CH471108,AF367472,AY032684,AY035867,AY035868,BC029483 NP_115987,EAW90508,EAW90509,EAW90510,EAW90511,EAW90512,AAK53408,AAK51120,AAK61373,AAK61374,AAH29483,Q8NHS9,ABM82168,ABM85354 Hs.351068 NYD-SP20 protein-coding 1605588 SPATA2L spermatogenesis associated 2-like 12477932,9110174,8619474 124044 NM_152339,AC010538,CH471184,AF070574,AK127372,BC027606,BC039608,BC053588,CR602544 NP_689552,EAW66697,EAW66698,EAW66699,AAH27606,AAH39608,AAH53588,Q8IUW3 Hs.374556 C16orf76|MGC26885|tamo protein-coding 1317781 SPATA3 spermatogenesis associated 3 130560 NM_139073,AY032925 GDB:11508929 1348615 SPATA4 spermatogenesis associated 4 12019456,15489334,15158438,12477932 132851 BC021731,BC029428,BC039342,NM_144644,AC093605,CH471056,AY040204 AAH21731,AAH39342,Q49AE5,Q8NEY3,NP_653245,EAX04721,EAX04722,AAK72463 Hs.481235 GDB:11508909 MGC33432|SPEF1B|TSARG2 protein-coding 1321404 SPATA5 spermatogenesis associated 5 1580863 16465403,15489336,14702039,12477932,11256614,11230166,11076863,10734318,16381901,16344560 166378 NM_145207,AC021205,AC026402,AC097492,AC109357,CH471056,AF361489,AF479656,AK091384,AL832175,BC048217,CR738547,DA619323 NP_660208,EAX05213,EAX05214,EAX05215,EAX05216,AAM00262,AAM43608,BAC03651,AAH48217,Q0JS07,Q0JUJ4,Q8NB90,CAL37817,CAL38707 Hs.709648 GDB:11508943 AFG2|SPAF protein-coding 1317463 SPATA5L1 spermatogenesis associated 5-like 1 737633,1580863 14702039,12477932,9373149 737633 79029 NM_024063,AC025580,CH471082,AK023232,AK225463,AK291457,BC000981,BC051861,AF086107,AK022348 NP_076968,EAW77310,BAB14017,BAB14482,BAF84146,AAH00981,Q86V22,Q9BVQ7,EAW77311 Hs.369657 FLJ12286|MGC5347 protein-coding 732866 SPATA6 spermatogenesis associated 6 16710414,15489334,14702039,12477932,11735130,12509440 54558 NM_019073,AL356968,AL359959,CH471059,AK000869,BC020660,CR592303 NP_061946,EAX06854,EAX06855,BAA91403,AAH20660,Q5T3N6,Q9NWH7,ABM82927,ABM86117 Hs.538103 GDB:11507927 FLJ10007|SRF-1|SRF1 protein-coding 1345087 SPATA7 spermatogenesis associated 7 16381901,15489336,15489334,14702039,12736779,12508121,12477932,11230166,11076863,9373149,8125298 55812 CR533563,NM_018418,NM_001040428,AL049834,AL353786,CH471061,AF144487,AF144488,AK055864,AK225746,AK290631,AK293007,AL136604,BC008656,BC034635,BC037809,BC090875,CR618045,CR936777 NP_060888,NP_001035518,CAD18999,EAW81376,EAW81377,EAW81378,EAW81379,EAW81380,EAW81381,AAF66077,AAF66078,BAF83320,BAF85696,CAB66539,AAH08656,AAH90875,CAG38594,Q5BKY5,Q6FI63,Q9P0W8,CAL38116 Hs.525518 DKFZp686D07199|HSD-3.1|HSD3|MGC102934 protein-coding 1347601 SPATA8 spermatogenesis associated 8 15489334,12477932 145946 NM_173499,AC027004,CH471101,AY489187,BC033979,BC066292,BC112390 NP_775770,EAX02204,EAX02205,AAR39432,AAH33979,AAH66292,AAI12391,Q6RVD6 Hs.326528 MGC102678|MGC44294 protein-coding 1317981 SPATA9 spermatogenesis associated 9 16963046,16344560,15489334,14702039,12493713,12477932 83890 NM_031952,AC008547,AC008840,CH471084,AK093225,AK292338,AY027526,BC032832,BC047333,BQ013593,DB027274 NP_114158,EAW96046,EAW96047,BAC04101,BAF85027,AAK16746,AAH32832,AAH47333,Q9BWV2 Hs.50499,Hs.673966 FLJ35906|NYD-SP16 protein-coding 1344287 SPATC1 spermatogenesis and centriole associated 1 737633 15280373,12477932 737633 375686 NM_198572,AC109322,CH471162,AB092352,BC050390,BC053547 NP_940974,EAW82167,BAD08232,AAH50390,AAH53547,Q76KD6 Hs.97726 MGC61633|SPATA15|SPERIOLIN protein-coding 736705 SPATS1 spermatogenesis associated, serine-rich 1 12477932 221409 NM_145026,AL353588,CH471081,AA400657,AK058171,AK126641,BC100956,BC100957,BC100958,BC100959,BC110065,BC111414 NP_659463,EAX04269,BAB71701,AAI00957,AAI00958,AAI00959,AAI00960,AAI10066,AAI11415,Q496A3 Hs.135283 FLJ25442|MGC119210|MGC119211|MGC119212|MGC119213|MGC133020|SPATA8|SRSP1 protein-coding 1312420 SPATS2 spermatogenesis associated, serine-rich 2 16344560,15146197,14702039,12477932,11944913 65244 NM_023071,AC009246,AC078826,AC125611,CH471111,AB075515,AK023179,AK023202,AK024678,AK095582,AK292334,AL833614,BC017767,BC032441,BC048299,BX648916,CN421379,CR613910,DB305045 NP_075559,EAW58068,EAW58069,EAW58070,EAW58071,BAE45760,BAB14448,BAB14460,BAB14958,BAF85023,AAH48299,Q86XZ4 Hs.654826 FLJ13117|Nbla00526|P59SCR|SCR59|SPATA10 protein-coding 1604521 SPC24 SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) 15961401,16565220,15964272,15489334,14738735,14702039,14699129,12477932,15371340 147841 NM_182513,AC011485,CH471106,CQ784019,AK075287,AY456387,BC105037,BC105039 NP_872319,EAW84174,CAF86972,BAC11523,AAR88651,AAI05038,AAI05040,Q8NBT2 Hs.381225 FLJ90806|SPBC24 protein-coding 1606531 SPC25 SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. 14699129,15961401,15815621,15489334,14738735,12477932,9585408,15371340 57405 NM_020675,AC069137,CH471058,AF225416,AK291093,AY456388,BC022255,CR457197,CR590224,CR610550 NP_065726,AAY24098,EAX11288,EAX11289,EAX11290,AAG09718,BAF83782,AAR88652,AAH22255,CAG33478,Q9HBM1 Hs.421956 AD024|MGC22228|SPBC25 protein-coding 1346470 SPCS1 signal peptidase complex subunit 1 homolog (S. cerevisiae) 724719,1580863 8632014,15489334,14702039,12477932,11042152 724719 28972 NM_014041,AC104446,CH471055,AF092138,AK027426,BC000884,BG724036,BI826431,BQ423345,BU070128,L38852 NP_054760,AAL31361,Q9Y6A9,EAW65257,AAD40380,AAH00884 Hs.11125 HSPC033|SPC1|SPC12|YJR010C-A protein-coding 1345346 SPCS2 signal peptidase complex subunit 2 homolog (S. cerevisiae) 1580863 15489334,15342556,12477932,7788527 9789 NM_014752,AP001992,CH471076,CQ834280,CQ834314,AA921960,BC008063,BC064957,BC067821,BC070276,BC082231,BC106066,BP338843,CR542233,CR542243,CR596604,CR602832,CR607144,CR616868,CR619126,CR619127,CR619893,D14658 NP_055567,EAW74952,CAH05355,CAH05372,AAH08063,AAH70276,AAH82231,AAI06067,CAG47029,CAG47039,BAA03492,Q15005,AAH64957 Hs.282700,Hs.512341 KIAA0102|MGC117366 protein-coding 1342746 SPCS2P signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 255320 XM_170777 1353202 SPCS3 signal peptidase complex subunit 3 homolog (S. cerevisiae) 737633 15489334,14702039,12975309,12477932,11230166 737633 60559 NM_021928,AC019163,CH471056,CQ834702,AK026302,AK092634,AL136660,AY359044,BC043490,BC047290,BC053883,CR603061 NP_068747,EAX04718,EAX04719,CAH05566,BAB15437,CAB66595,AAQ89403,AAH47290,P61009 Hs.42194 DKFZp564J1864|FLJ22649|PRO3567|SPC22/23|SPC3|YLR066W protein-coding 1318473 SPDEF SAM pointed domain containing ets transcription factor PDEF is an ETS transcription factor expressed in prostate epithelial cells. It acts as an androgen-independent transactivator of PSA (MIM 176820) expression.[supplied by OMIM] 1580863 10625666,17971898,17521701,17347682,17197890,16357167,16237704,15882048,15523673,15489334,14719083,14574404,12907642,12700667,12477932,11809674,10675039,6857767,2437 25803 NM_012391,BX255971,BX255972,BX255973,CH471081,AB031549,AF071538,BC021299 NP_036523,CAI23605,CAH73099,CAH73104,EAX03788,BAA89543,AAC95296,AAH21299,O95238,ABZ92226 Hs.485158 PDEF|RP11-375E1__A.3|bA375E1.3 protein-coding 1352707 SPDYA speedy homolog A (Drosophila) 11980914,12839962,17671428,16951407,15815621,15611625,15489334,14702039,12972555,12477932 245711 NM_182756,NM_001008779,AC097720,AC097724,CH471053,AA625975,AY820303,AY820304,BC047224,BC093005 NP_877433,NP_001008779,AAY24014,AAY24125,EAX00526,AAW30394,AAW30395,AAH93005,Q53R02,Q5MJ70 Hs.511956 MGC110856|MGC57218|Ringo3|SPDY1|SPY1 speedy homolog 1 (drosophila) protein-coding 1606089 SPDYC speedy homolog C (Drosophila) 15611625 387778 NM_001008778,AP003068,CH471076,AY820305 NP_001008778,EAW74363,AAW30396,Q5MJ68 Hs.450642 Ringo2 protein-coding 1606479 SPECC1 sperm antigen with calponin homology and coiled-coil domains 1 14702039,12477932,17081983,15602574,15489334,15342556,15146197,15087372 92521 NM_001033553,NM_152904,NM_001033555,NM_001033554,AC004702,AC007963,AC008088,BK005598,CH471212,AB041533,AY816326,AY816327,AY816328,AY816329,BC021123,BC033618,BC050058,BP287096,CN267630,CR623676 NP_001028725,NP_690868,NP_001028727,NP_001028726,DAA05629,DAA05630,DAA05631,DAA05632,EAW50914,EAW50915,EAW50916,EAW50917,EAW50918,EAW50919,EAW50920,EAW50921,BAB16440,AAW29999,AAW30000,AAW30001,AAW30002,AAH21123,AAH33618,AAH50058,Q5M775 Hs.431045 FLJ36955|HCMOGT-1|NSP protein-coding 1603682 SPECC1L SPECC1-like 17081983,14702039,12477932,10508479,9205841,14743216 23384 AP000354,AP000355,CH471095,AB002374,AK025531,AK097129,AL832425,AY884293,BC005093,BC013085,BC021132,BC041571,BC068611,BC136471,NM_015330 NP_056145,EAW59656,EAW59657,BAA21574,CAH10609,AAX84184,AAI36472,Q59GT7,Q69YQ0 Hs.474384 KIAA0376 protein-coding 1344029 SPEER1 spermatogenesis associated glutamate-rich protein 1 442872 1344375 SPEER2 spermatogenesis associated glutamate-rich protein 2 442873 1347819 SPEER3 spermatogenesis associated glutamate-rich protein 3 442874 1343609 SPEER4A spermatogenesis associated glutamate-rich protein 4A 442875 1347172 SPEER4B spermatogenesis associated glutamate-rich protein 4B 442876 1350780 SPEER4C spermatogenesis associated glutamate-rich protein 4C 442877 1354004 SPEER4D spermatogenesis associated glutamate-rich protein 4D 442878 1345326 SPEER4E spermatogenesis associated glutamate-rich protein 4E 442879 1342954 SPEER4F spermatogenesis associated glutamate-rich protein 4F 442880 1352079 SPEER5 spermatogenesis associated glutamate-rich protein 5 442881 1345693 SPEER6 spermatogenesis associated glutamate-rich protein 6 442882 1349168 SPEER7 spermatogenesis associated glutamate-rich protein 7 442883 1352557 SPEER8 spermatogenesis associated glutamate-rich protein 8 442884 1343688 SPEER9 spermatogenesis associated glutamate-rich protein 9 442885 1322632 SPEF1 sperm flagellar 1 16344560,16206169,15979255,15489334,12477932,11780052,11230166,16189514 25876 NM_015417,AL109804,CH471133,AI925267,AL040853,AL080154,BC022476,BI520334,DB030684,DB033051,EF560745 NP_056232,CAI18846,EAX10503,EAX10504,EAX10505,CAB45745,AAH22476,ABQ59055,Q9Y4P9 Hs.72620 GDB:11504963 C20orf28|CLAMP|DKFZP434I114|SPEF1A protein-coding 1605340 SPEF2 sperm flagellar 2 17610085,16549801,16344560,14702039,12477932,11214970,9373149,8125298,7566098 79925 NM_144722,NM_024867,AC025448,AC112204,AC116333,AC137810,AC142209,CH471119,AA328954,AB051557,AK026817,AK027230,AK058124,AK094564,AK097547,AK225586,AK225607,AL832607,BC016773,BC067761,BC110984,BX648691,CB955825,DA295300,EF553528,BQ576090 NP_653323,NP_079143,EAW55920,EAW55921,EAW55922,EAW55923,BAB21861,BAB15563,BAB15700,BAB71674,Q9C093,AAI56529,AAI10985 Hs.298863 FLJ23164|FLJ23577|FLJ25395|KIAA1770|KPL2|MGC102842 protein-coding 734132 SPEG SPEG complex locus Expression of this gene is thought to serve as a marker for differentiated vascular smooth muscle cells which may have a role in regulating growth and differentiation of this cell type. The encoded protein is highly similar to the corresponding rat and mouse proteins. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of only one variant has been defined. 8663449,16545539,16354304,15815621,15784173,15489334,15185077,14702039,12477932,10718198,10318857 10290 NM_005876,AC053503,CH471063,AB037718,AK055387,AK126500,AK128689,AK129604,AK289531,AL535839,AY603755,BC006346,CR542201,CR619747,DQ395348,U57099 NP_005867,AAY15052,EAW70742,EAW70743,EAW70744,EAW70745,EAW70746,EAW70747,EAW70748,EAW70749,EAW70750,EAW70751,BAA92535,BAC86568,BAC87572,BAF82220,AAT80901,AAH06346,CAG46998,ABD61734,AAC50599,Q15772 Hs.21639 APEG1|BPEG|KIAA1297|MGC12676|SPEGalpha|SPEGbeta protein-coding 1602954 SPEM1 spermatid maturation 1 17426145,14702039,12477932 374768 NM_199339,AC113189,CS111500,AK097400,BC033882 NP_955371,CAJ09938,BAC05034,AAH33882,Q8N4L4,Q8N839 Hs.710599 C17orf83|FLJ40081 chromosome 17 open reading frame 83 protein-coding 1350979 SPEN spen homolog, transcriptional regulator (Drosophila) This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. 1580863 18332109,17234755,17081983,16964243,16713569,16710414,16583136,15824732,15302935,15062576,14702039,12897056,12374742,11867749,11331609,10451362,10231032,1020939 23013 NM_015001,AL034555,AL450998,CH471167,AB023146,AF085964,AF356524,AK000882,AK022949,AK092332,AK127577,AL096858,CR620882 NP_055816,CAI19526,CAI19528,CAH70858,CAH70862,EAW51756,BAA76773,AAK52750,BAA91405,BAB14324,CAB51072,Q5VVE2,Q96T58 Hs.558463 KIAA0929|MINT|RP1-134O19.1|SHARP protein-coding 1606126 SPERT spermatid associated 12204287,16189514,14702039,12477932 220082 AL139320,NM_152719,AK093129,AK292350,BC027609 NP_689932,CAH70637,CAH70638,BAC04067,BAF85039,AAH27609,Q8NA61 Hs.186363 CBY2|FLJ35810|NURIT protein-coding 1349587 SPESP1 sperm equatorial segment protein 1 15489334,12975309,12773409,12477932 246777 NM_145658,AC087639,CH471082,AF275321,AY358983,BC017998 NP_663633,EAW77829,AAM69364,AAQ89342,AAH17998,Q6UW49 Hs.657932 GDB:11508766 MGC24663|SP-ESP protein-coding 1347040 SPG11 spastic paraplegia 11 (autosomal recessive) 10408536 23442 GDB:9956562 1352500 SPG12 spastic paraplegia 12 (autosomal dominant) 10677333 23675 GDB:10013985 1343240 SPG13 spastic paraplegia 13 (autosomal dominant) 10677329 56733 GDB:10013987 1351137 SPG14 spastic paraplegia 14 (autosomal recessive) 10877981 57309 GDB:11507929 1353805 SPG15 spastic paraplegia 15 (complicated, autosomal recessive) 207106 GDB:10796887 1353816 SPG16 spastic paraplegia 16 (complicated, X-linked recessive) 10982473,10982474 57760 GDB:11501746 1344469 SPG17 spastic paraplegia 17 (Silver syndrome) 11389484 64408 GDB:11507931 1347039 SPG18 spastic paraplegia 18 (autosomal dominant) 140906 GDB:11508932 1349854 SPG19 spastic paraplegia 19 (autosomal dominant) 140907 GDB:11508882 1314206 SPG20 spastic paraplegia 20 (Troyer syndrome) This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). 18413476,17420921,17332501,16945107,16036216,15489334,15231748,15188498,15057823,14702039,12676568,12477932,12134148,10463356,9628581,8889549,6022528 23111 NM_015087,AL139377,AY038934,AY123337,CH471075,CQ859806,AA137195,AB011182,AK001949,AK002207,AK057764,AK291724,AY038359,AY123329,BC026284,BC047083,BQ719410,BU622545,BX648004,CR609925,CR624417 NP_055902,CAC17479,AAK71883,AAM76672,EAX08558,EAX08559,EAX08560,EAX08562,EAX08563,CAH25953,BAA25536,BAF84413,AAK72374,AAM76671,AAH47083,Q8N0X7,EAX08561 Hs.440414 KIAA0610|SPARTIN|TAHCCP1 protein-coding 1351182 SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. 1580863,1556574 15489334,14702039,14564668,12477932,9373149,8125298,6024251,11113139,16189514 1556574 51324 AC069368,NM_016630,AC103691,CH471082,AF208861,AF212231,AK123725,AK172849,AK225527,BC000244,BI552731,BX446863,CR592296,CR593134,CR597831,CR601212,CR605959,CR613754,CR615282 NP_057714,EAW77704,EAW77705,AAF64275,AAK14917,BAD18813,AAH00244,Q9NZD8 Hs.242458 ACP33|BM-019|GL010|MASPARDIN|MAST protein-coding 1344938 SPG23 spastic paraplegia 23 (autosomal recessive) 14681889 353293 1350179 SPG24 spastic paraplegia 24 (autosomal recessive) 12499481 338090 1343849 SPG25 spastic paraplegia 25 (autosomal recessive, with disc herniation) 12070243 387583 1349141 SPG27 spastic paraplegia 27 (autosomal recessive) 414886 1352093 SPG3A spastic paraplegia 3A (autosomal dominant) 1580863 17531128,17502470,17427918,17420921,17380240,17321752,16815977,16401858,16339213,15742100,15596607,15517445,15489334,15477516,15184642,14695538,14607301,14506257,12939451,12508121,12499504,12477932,12112092,11685207,9373149,9110174,8619474,8252041,8125298,7825576,12387898 51062 NM_015915,NM_181598,AL118556,AL606834,CH471078,CQ860306,AF131801,AF444143,AK223436,AK290185,AL833591,AW674605,AY032844,BC010708,BG704589,BI601372,CR457153,CR599776,R61338 Q6IAK1,Q8WXF7,NP_056999,NP_853629,EAW65705,EAW65706,EAW65707,EAW65708,EAW65709,CAH25961,AAD20047,AAL37898,BAD97156,BAF82874,CAH10392,AAK51160,AAH10708,CAG33434,Q53F53,Q69YH7 Hs.584905 GDB:230126 AD-FSP|ATL1|FSP1|GBP3|SPG3|atlastin1 protein-coding 1354358 SPG3B spastic paraplegia 3B 7825576 6682 GDB:512274 1343917 SPG5A spastic paraplegia 5A (autosomal recessive) 6684 GDB:250332 1346296 SPG5B spastic paraplegia 5B (autosomal recessive) 6685 GDB:250333 1342736 SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7. 1580863 11549317,9635427,9405655,18200586,17646629,17420921,16534102,16357941,16189514,15489334,14702039,14506940,12477932,10480368,9634528,8429914,8098008,1560826 6687 NM_003119,NM_199367,AC092123,AF080525,CH471184,D14075,X65784,AF034795,AF090912,AK094627,BC007692,BC015411,BC035929,BC036104,BC052587,BC110530,BC110531,BI827568,CA447374,CR609511,S54769,Y16610 NP_003110,NP_955399,AAD28099,EAW66726,EAW66727,EAW66728,EAW66729,BAA03160,CAA46667,AAC02429,AAF24033,AAH35929,AAH36104,AAB25303,CAA76314,O43535,Q9UI71,Q9UQ90 Hs.185597 GDB:9848831 CAR|CMAR|FLJ37308|MGC126331|MGC126332|PGN|SPG5C spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) protein-coding 1352958 SPG8 spastic paraplegia 8 (autosomal dominant) 9973294 9195 GDB:9865062 1349562 SPG9 spastic paraplegia 9 (autosomal dominant) 9973297 9193 GDB:9955204 1603228 SPHAR S-phase response (cyclin-related) 7799938,16710414,12477932 10638 NM_006542,AL117350,DQ120096,X82554,AI400109,BC070287,BC107681 NP_006533,CAC17573,AAZ15373,CAA57901,AAH70287,Q15513,Q6NSB9 Hs.296169 GDB:449006 MGC88280|RP4-803J11.4 protein-coding 1346404 SPHK1 sphingosine kinase 1 Sphingosine-1-phosphate (SPP) is a novel lipid messenger with both intracellular and extracellular functions. Intracellularly, it regulates proliferation and survival, and extracellularly, it is a ligand for EDG1 (MIM 601974). Various stimuli increase cellular levels of SPP by activation of sphingosine kinase (SPHK), the enzyme that catalyzes the phosphorylation of sphingosine. Competitive inhibitors of SPHK block formation of SPP and selectively inhibit cellular proliferation induced by a variety of factors, including platelet-derived growth factor (e.g., MIM 173430) and serum.[supplied by OMIM] 12393916,10863092,10947957,16316995,15623571,12441135,12847068,10751414,18261991,18199826,18178871,17822721,17641298,17599053,17519232,17482291,17388800,17114809,17064696,16623665,16575915,16571380,16529909,16516161,16507765,16243846,16194537,16038795,15855330,15749892,15710602,15693752,15632208,15585953,15302883,15265887,15265705,15191888,15052627,14988393,14742298,14702039,14575709,14532121,12477932,12444147,12124383,12080051,12077123,11915350,11856736,11777919,10802064,9726979,9373149,8889549,8125298,7698749,16189514 8877 AK023393,AK095578,AK122781,AK225250,AK225258,AK292294,AK292614,BC004112,BC008040,BC009419,BC014439,BC030553,NM_021972,NM_182965,AC090699,AY278525,CH471099,AF200328,AF238083,AF266756,AJ245504,AK022402 BAB14558,BAF84983,BAF85303,AAH04112,AAH08040,AAH09419,AAH14439,AAH30553,Q53ZR5,Q8N632,Q96GK1,Q96HV8,Q9BTG7,Q9NYA1,NP_068807,NP_892010,AAP35060,EAW89388,EAW89389,EAW89390,EAW89391,EAW89392,EAW89393,EAW89394,AAG01980,AAF73423,AAF73470,CAB92131,BAB14028 Hs.68061 GDB:9957503 SPHK protein-coding 1317131 SPHK2 sphingosine kinase 2 1580863 12391145,11777919,10751414,18178871,17895250,17635916,17311928,16103110,15951439,15489334,14702039,14596938,12477932,11230166,8786133 56848 EF107108,AC022154,CH471177,AB100373,AF245447,AK000599,AK074601,AK122735,AK125560,AL136701,BC006161,BC010671,CR614720,NM_020126 ABK81123,Q6ZUL8,Q86YZ5,Q8N2M3,Q9NRA0,ABM87789,ABW03921,NP_064511,EAW52365,EAW52366,EAW52367,EAW52368,EAW52369,EAW52370,EAW52371,BAC55583,AAF74124,BAA91280,BAC11085,BAC86202,CAB66636,AAH06161,AAH10671 Hs.528006 GDB:11509010 protein-coding 1604287 SPHKAP SPHK1 interactor, AKAP domain containing 18055454,17325258,17164439,15485866,14702039,12477932,12080051,11214970 80309 NM_030623,AC096557,AC109825,AB051465,AK090876,AK095042,AK127071,BC104954,BC104956,CR749297,CR749494 NP_085126,BAB21769,AAI04955,AAI04957,CAH18152,CAH18317,Q2M3C7 Hs.436306 DKFZp781H143|DKFZp781J171|KIAA1678|MGC132614|MGC132616|SKIP protein-coding 1344411 SPI1 spleen focus forming virus (SFFV) proviral integration oncogene spi1 This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10207087,2180582,10867017,12833137,18316480,18288635,18056638,17671233,17623651,17621263,17562868,17545613,17410194,17386941,17218319,17200120,16973891,16861236,16698794,16642264,16352814,16320347,16298389,16263717,16223775,16149049,16083856,16051608,15796964,17694175,15632149,15625130,15598817,15342556,15339679,15304486,15242870,14706103,14647463,14623259,12896880,12832449,12778491,12477932,12393465,12372320,12202480,12130529,12130514,12091339,12036891,11929801,11926990,11181995,11133986,11076863,10734131,10411939,10364157,10196196,10050886,10022840,9918847,9681824,9600921,9478924,9376596,9211934,9094628,8626664,8434021,8219191,7730336,7594592,7478579,2338340,1693183,8632909 6688 NM_001080547,NM_003120,NG_007667,AC090559,AC090582,CH471064,U34046,BI519776,BI909430,BM561863,BP271276,CD368431,CR599683,CR606393,CR613003,CR615071,CR625357,X52056 NP_001074016,NP_003111,EAW67924,EAW67925,EAW67926,AAC50247,CAA36281,P17947,AAI11380 Hs.502511 GDB:120382 OF|PU.1|SFPI1|SPI-1|SPI-A protein-coding 1347644 SPIB Spi-B transcription factor (Spi-1/PU.1 related) SPI1 (MIM 165170) and SPIB are members of a subfamily of ETS (see ETS1; MIM 164720) transcription factors. ETS proteins share a conserved ETS domain that mediates specific DNA binding. SPIB and SPI1 bind to a purine-rich sequence, the PU box (5-prime-GAGGAA-3-prime).[supplied by OMIM] 1580863 1406622,8670269,16317090,16263717,15583020,15489334,12477932,12393575,11864910,11841448,10196196,9373149,8125298,12748276,16189514,8632909 6689 NM_003121,AC020909,CH471135,AK225225,AK225720,AK292644,BC007921,CR591146,X66079,X96998 NP_003112,EAW71858,EAW71859,EAW71860,EAW71861,EAW71862,EAW71863,EAW71864,BAF85333,AAH07921,CAA46878,CAA65726,Q01892,ABZ92185 Hs.437905 GDB:374517 SPI-B protein-coding 1314796 SPIC Spi-C transcription factor (Spi-1/PU.1 related) 1580863 16647686,15489334,12477932,12459275 121599 NM_152323,AC090671,CH471054,AF518404,BC032317 NP_689536,EAW97662,AAN84476,AAH32317,Q8N5J4,ABZ92378 Hs.577097 MGC40611|SPI-C protein-coding 1314698 SPIN1 spindlin 1 1580863 11256614,11230166,11076863,9053325,17082182,16472086,16381901,16098913,15489336,15489334,15164053,14702039,12477932 10927 NM_006717,AL353748,CH471089,AF087864,AF106682,AF317228,AJ420427,AK024590,AK027044,AK092017,AK289691,AK290009,AK315854,AL136719,BC013571,BC114515,BC114565,BT007314,CR533484,CR616534,DB465491 NP_006708,CAH72406,EAW62753,EAW62754,EAW62755,AAG48367,AAD43035,AAG38112,BAF82380,BAF82698,BAF98745,CAB66653,AAH13571,AAI14516,AAI14566,AAP35978,CAG38515,Q9Y657,CAL37656,CAL38623,ABM84462,ABM87799 Hs.146804 GDB:9958882 SPIN spindlin protein-coding 1348781 SPIN2A spindlin family, member 2A 1580863 15772651,15489334,12477932,12145692,12107411,9271673 54466 NM_019003,AL022157,CH471154,BC071694,Y09858 NP_061876,CAI42597,EAW93242,EAW93243,AAH71694,CAA70988,Q99865 Hs.460725 DXF34|MGC88670|RP3-323P24.2|SPIN2|dJ323P24.1 protein-coding 1603797 SPIN2B spindlin family, member 2B 15772651,15489334,12477932,12145692 474343 NM_001006681,NM_001006682,NM_001006683,AL022157,CH471154,AF356353,BC000044,BC071974,BQ221120 NP_001006682,NP_001006683,NP_001006684,CAI42598,CAI42599,CAI42600,EAW93238,EAW93239,EAW93240,AAK37566,AAH00044,AAH71974,Q5JZB8,Q9BPZ2 Hs.659479 SPIN-2|SPIN2_duplicate|dJ323P24.2 protein-coding 1604513 SPIN3 spindlin family, member 3 16344560,15772651,15489334,14702039,12477932 169981 NM_001010862,AL139397,CH471154,AJ271379,AK123122,AK127485,AL832091,BC016437,BC018073,BC032490,BC146899,BC146906,BX403408,CR614652,DB151976 NP_001010862,CAI40751,EAW93237,AAH18073,AAH32490,AAI46900,AAI46907,Q5JUX0 Hs.522672 FLJ41127|MGC40395|bA445O16.1 protein-coding 1602297 SPIN4 spindlin family, member 4 14702039,12477932,11181995 139886 AL158203,CH471132,AK021705,AK126931,AL833314,BC035088,BC043412,BC112360,NM_001012968 NP_001012986,CAI41371,EAX05423,AAH43412,AAI12361,Q56A73 Hs.612782 FLJ44984|MGC133224 protein-coding 1350719 SPINK1 serine peptidase inhibitor, Kazal type 1 1599102,1580863 2093478,1613792,843082,1870127,14507909,18414673,12649567,12529713,12477932,12452372,12360464,12360463,12187509,12120224,12120220,12014716,12011155,11950817,11950815,11938439,11866271,11355022,10982753,10835640,10691414,9643675,8433367,7142173,3877508,3501289,2961612,2110056,18336671,18182741,18076731,17990360,17981921,17886119,17681820,17613931,17568390,17525091,17489851,17446841,17333166,17238043,17163998,17072959,17003641,16981266,16958672,16954950,16764792,16497624,16327984,16187186,15987793,15980664,15910626,15810949,15782101,15764155,15753612,15749233,15749232,15489334,15367892,15329520,15238770,15082592,14722925,14688470,14675563,14595541,14526128,12973686,12939655,12875970,12825076,12822871 1599102 6690 NM_003122,AC011352,AF286028,CH471062,M20530,AI990990,BC025790,M11949,Y00705 NP_003113,AAG00531,EAW61817,AAA36522,AAH25790,AAA36521,CAA68697,P00995,ABM84539,ABM87841 Hs.407856 GDB:120383 PCTT|PSTI|Spink3|TATI serine protease inhibitor, kazal type 1 protein-coding 1349585 SPINK2 serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor) 1580863 17333166,15489334,15120973,12477932,8428671,2226783,1801743,1704312,791787 6691 NM_021114,AC022483,CH471057,M91438,BC022514,CR542135,X57655 CAB37834,P20155,Q6FGH2,ABM86459,ABW03650,NP_066937,EAX05512,EAX05513,EAX05514,EAX05515,AAB59431,AAH22514,CAG46932 Hs.98243 GDB:138132 HUSI-II serine protease inhibitor, kazal type 2 (acrosin-trypsin inhibitor) protein-coding 1342974 SPINK4 serine peptidase inhibitor, Kazal type 4 1580863 17333166,15489334,15164053,12678500,12477932,1400298 27290 NM_014471,AL161445,CH471071,AF048700,BC110068 NP_055286,CAD13307,EAW58518,AAC05124,AAI10069,O60575 Hs.555934 GDB:11507933 MGC133107|PEC-60 protein-coding 1315213 SPINK5 serine peptidase inhibitor, Kazal type 5 This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene. 1599104,1580863 10419450,15680911,12915442,15675955,17989887,17989726,17936012,17596512,17415575,17333166,16601670,16519819,16374478,15986064,15942217,15820494,15466487,15366933,15304086,15005725,14551605,12752122,12437098,11943586,11874482,11841556,11796258,11594460,11544479,11511292,10835624,10712206 1599104 11005 NM_001127698,NM_001127699,AC008722,AC116334,AF295783,AF295784,AJ391230,CH471062,AF086524,AF147363,AI341060,AJ228139,AK025197,NM_006846,AK307588,AK307648,AK309753,BI256857,BX648792,DQ149927,DQ149928,DQ149929,DR421881 NP_006837,NP_001121170,NP_001121171,AAK97140,AAK97139,CAB96877,EAW61815,CAB40839,ABA06534,ABA06535,ABA06536,Q3LX95,Q3LX96,Q3LX97,Q9NQ38,AAI41546 Hs.331555 GDB:9956114 DKFZp686K19184|FLJ21544|FLJ97536|FLJ97596|FLJ99794|LEKTI|LETKI|NETS|NS|VAKTI serine protease inhibitor, kazal type 5 protein-coding 1601681 SPINK5L2 Kazal type serine protease inhibitor 5-like 2 15060002 408187 NM_001001325,AC116334,BN000355 NP_001001325,CAE51407,AAI41496,AAI48776,Q6IE38 Hs.553815 protein-coding 1351307 SPINK6 serine peptidase inhibitor, Kazal type 6 1303943 15489334,15340161,15060002,12975309,12477932,11329013 1303943 404203 NM_205841,AC011346,CH471062,AY358716,BC032003 NP_995313,EAW61813,EAW61814,AAQ89078,AAH32003,Q6UWN8 Hs.334274 BUSI2|MGC21394|UNQ844 protein-coding 1606769 SPINK7 serine peptidase inhibitor, Kazal type 7 (putative) 12970870,17693286,17602171,17352218,15489334,14639608,12975309,12646258,12477932,12153718 84651 NM_032566,AC091948,CH471062,AF268198,AY359072,BC109385,BC110067 NP_115955,EAW61810,AAK27795,AAQ89431,AAI09386,AAI10068,P58062 Hs.244569 ECG2|ECRG2|MGC133105|MGC133106 protein-coding 1606051 SPINK8 serine peptidase inhibitor, Kazal type 8 (putative) 16930550 646424 NM_001080525,AC105267 NP_001073994,P0C7L1 Hs.257687 protein-coding 1603723 SPINK9 serine peptidase inhibitor, Kazal type 9 643394 NM_001040433,AC091948,AY396740 NP_001035523,AAR91618,Q5DT21 Hs.631798 LEKTI2 protein-coding 1315316 SPINLW1 serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin) This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 15590901,15489334,15229136,12909348,12477932,12206714,11780052,11404006 57119 AL118493,BC003675,BC044829,BC053369,AK126022,NM_020398,NM_181502,AL031663,CH471077,AF286368,AF286369,AF286370 CAB56343,AAH03675,AAH44829,AAH53369,O95925,NP_065131,NP_852479,CAB37635,CAC36265,CAO03536,EAW75831,EAW75832,AAG00546,AAG00547,AAG00548 Hs.121084 GDB:11507935 EPPIN|EPPIN1|EPPIN2|EPPIN3|WAP7|WFDC7|dJ461P17.2 protein-coding 1606832 SPINT1 serine peptidase inhibitor, Kunitz type 1 The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. 15713485,9045658,17981575,17786295,17389401,16820046,16713569,16341674,16273651,16103126,15994391,15489334,15340161,15231748,12975309,12815039,12477932,11290548,11201608,11013244,10824123,10544273,10373425,10219059,9743567,16189514 6692 CR611994,CR606886,CR611481,CR614219,CR621611,CR625047,CR626224,NM_181642,NM_003710,NM_001032367,AC012476,CH471125,AB000095,AI684245,AY296715,AY358969,BC004140,BC018702,BE871002,BM763214,BT007425,CR593471,CR596666 O43278,ABM81673,ABM83219,ABM86419,NP_857593,NP_003701,NP_001027539,EAW92457,EAW92458,BAA25014,AAP44001,AAQ89328,AAH04140,AAH18702,AAP36093 Hs.233950 GDB:118879 HAI|HAI1|MANSC2 protein-coding 1351424 SPINT2 serine peptidase inhibitor, Kunitz type, 2 1580863 9434156,11606055,9346890,9115294,17255277,16353247,16236267,15930277,15717269,15489334,15388859,15340161,14734471,14695180,14558597,12571229,12569552,12553733,12522575,12477932,12211652,12180971,11777908,11013244,9359851,9045658,8895530,8601712,7513643 10653 NM_021102,AC011479,CH471126,AB006534,AF027205,CR609125,CR609538,CR609699,CR612643,CR614035,CR617991,CR618227,CR618416,CR620830,CR622436,CR625765,U78095,Z36849,BC001668,BC007705,BC011951,BC011955,BC012868,BT020115,BT020116,BT020117,CR407604,CR593344,CR596882,CR598970,CR600601,CR600684,CR602617,CR605387,CR606163,CR607672,AK291532 NP_066925,EAW56766,EAW56767,BAA25024,AAB84031,AAC02781,O43291,Q6LEU8,BAF84221,AAH01668,AAH07705,AAH11951,AAH11955,AAH12868,AAV38918,AAV38919,AAV38920,CAG28532 Hs.31439 GDB:9958098 HAI-2|HAI2|Kop|PB serine protease inhibitor, kunitz type, 2 protein-coding 1353929 SPINT3 serine peptidase inhibitor, Kunitz type, 3 1580863 11780052,11549316 10816 AY372172,AL031663,X77166 AAR17081,CAB37639,CAA54410,P49223 GDB:9958370 HKIB9 serine protease inhibitor, kunitz type, 3 protein-coding 1345747 SPINT4 serine protease inhibitor, Kunitz type 4 338450 1603467 SPINT4 serine peptidase inhibitor, Kunitz type 4 391253 NM_178455,AL109656,CH471077,AY372173,AY372174 NP_848550,CAC36025,EAW75818,AAR17082,AAR17083,Q6UDR6 Hs.677891 GDB:11505118 C20orf137|SPINT3|dJ601O1.1 protein-coding 1354236 SPIRE1 spire homolog 1 (Drosophila) Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM] 18042452,17353931,14702039,12477932,11747823,10574461,15778465 56907 NM_020148,AP001028,AP001029,AP005482,CH471113,BC125207,DB506330,DR001109,AB032961,AJ277587,AK025433,AK090999,AK290180,AL833817,BC016825,BC115005,BC125206 NP_064533,AAI25208,Q08AE8,Q8NDP1,Q96AS4,EAX01544,EAX01545,EAX01546,BAA86449,CAB96370,BAF82869,CAD38680,AAH16825,AAI15006,AAI25207 Hs.515283 MGC150621|MGC150622|Spir-1 protein-coding 1314110 SPIRE2 spire homolog 2 (Drosophila) 14702039,12477932,11347906 84501 NM_032451,AC092385,CH471184,AB058735,AJ422077,AK094918,AK130685,AL834408,BC011119,BC063706,BC111030,BC139732,BX439688,CR593729 NP_115827,EAW66680,EAW66681,EAW66682,BAB47461,CAD19439,CAD39070,AAH63706,AAI11031,AAI39733,Q8WWL2 Hs.461786 MGC117166|Spir-2 protein-coding 737577 SPN sialophorin (leukosialin, CD43) Sialophorin (leukosialin) is a major sialoglycoprotein on the surface of human T lymphocytes, monocytes, granulocytes, and some B lymphocytes, which appears to be important for immune function and may be part of a physiologic ligand-receptor complex involved in T-cell activation.[supplied by OMIM] 1580863 10899905,1683685,10753822,2023632,17979485,17891181,16757688,16751378,16269612,15522211,15489334,15449712,15280197,15187099,15003504,14719063,14676827,12902492,12820726,12626536,12499775,12477932,12411317,12045189,11773067,11238599,10908570,10490978,9616160,9603925,9472040,8858161,2950285,2784859,2521952,2241892,1827122,1731338,1301183,8554898 6693 NM_001030288,NM_003123,AC009086,CH471238,M61827,X52075,AK292626,BC012350,BC035510,CR601465,J04536,X60502 NP_001025459,NP_003114,EAW80015,EAW80016,AAA51949,CAA36294,BAF85315,AAH12350,AAB59540,P16150,ABM83188,ABM86390 Hs.632188 GDB:120384 CD43|GPL115|LSN sialophorin protein-coding 1602314 SPNS1 spinster homolog 1 (Drosophila) 12815463,14702039,12477932,11340170,11256614,16189514 83985 NM_032038,AC109460,CH471267,AB209402,AF212371,AF370423,AK095677,AK289787,AL390215,BC006156,BC008325,BC038961,BC047741,BC065235,CR591379,CR596645,CR611391 NP_114427,EAW52016,EAW52017,EAW52018,EAW52019,EAW52020,EAW52021,EAW52022,EAW52023,BAD92639,AAG43830,AAQ15259,BAC04603,BAF82476,CAB99229,AAH06156,AAH08325,AAH38961,AAH47741,AAH65235,Q59FQ8,Q8N953,Q9H2V7 Hs.632181 FLJ38358|HSpin1|LAT|PP2030|SPIN1|SPINL|nrs protein-coding 1625643 SPNS2 spinster homolog 2 (Drosophila) 12815463,12477932 124976 XM_001719788,XM_001725485,XM_001723978,NM_001124758,AC118754,BC041772,BC065221,CR602862 XP_001719840,XP_001725537,XP_001724030,NP_001118230,AAH41772,Q8IVW8 Hs.567664 protein-coding 1601816 SPNS3 spinster homolog 3 (Drosophila) 17714910,12477932 201305 NM_182538,AC116910,AC127521,CH471108,AK172832,BC023646,CR593280,CR606228,CR611034,CR614611,CR618257,CR624976 NP_872344,EAW90439,EAW90440,BAD18797,AAH23646,Q6ZMD2 Hs.657543 MGC29671 protein-coding 1315081 SPO11 SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. 1580863 10534401,18166824,16169419,15489334,12477932,11780052,11106738,10622720 23626 NM_012444,NM_198265,AL135939,AY957583,CH471077,AF149310,AF169385,BC033591 NP_036576,NP_937998,CAI21519,CAI21520,CAI21521,CAI21522,AAX44047,EAW75526,EAW75527,AAD44812,AAD52562,AAH33591,Q5TCH6,Q5TCH7,Q9Y5K1 Hs.159737 GDB:10795851 MGC39953 spo11 meiotic protein covalently bound to dsb-like (s. cerevisiae) protein-coding 1345460 SPOCD1 SPOC domain containing 1 737633 14702039,12477932 737633 90853 AL354919,CH471059,AK058077,AK091016,AK095829,AK097227,AK131447,BC007910,BC029069,BC039870,NM_144569,BC114430,CR600020 NP_653170,CAI16891,CAI16892,EAX07586,EAX07587,EAX07588,BAB71652,BAC03567,BAC04981,BAD18592,AAH07910,AAH29069,AAH39870,AAI14431,Q05C62,Q5T6K1,Q6ZMY3,Q96I05 Hs.62604 FLJ25348|FLJ39908|RP11-84A19.1 protein-coding 1322984 SPOCK1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. 1580863 8389704,9181134,16596217,15372022,14702039,12810672,12477932,11355883,11131125,9545645,9323035,9272383,8626787,7507743 6695 NM_004598,AC004592,AC005213,AC091818,AC092270,AC106746,AC106787,AC106809,CH471062,AB209701,AF231124,AI674088,AK094489,BC030691,BG704964,BI550122,CR606032 NP_004589,AAC14063,AAC24945,EAW62185,EAW62186,BAD92938,AAF43687,AAH30691,O60400,Q08629,Q59EW0,Q8N630,ABM81840,ABM84991 Hs.654695 GDB:141991 FLJ37170|SPOCK|TESTICAN|TIC1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) protein-coding 1318416 SPOCK2 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 Proteoglycans, which consist of a core protein and covalently linked glycosaminoglycans, are components of the extracellular matrix. SPOCK2 encodes a member of a novel Ca(2+)-binding proteoglycan family.[supplied by OMIM] 1580863 10386950,18398821,17950619,17081983,15489334,15340161,12975309,12810672,12477932,12421765,9039502 9806 NM_014767,AC022392,CH471083,AJ001453,AK292328,AY358921,BC023558,CR611409,D87465 NP_055582,EAW54441,EAW54442,EAW54443,CAA04774,BAF85017,AAQ89280,AAH23558,BAA13404,Q92563,ABM84313,ABM87706 Hs.523009 testican-2 protein-coding 1313840 SPOCK3 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 Proteoglycans, which consist of a core protein and covalently linked glycosaminoglycans, are components of the extracellular matrix. SPOCK3 encodes a member of a novel Ca(2+)-binding proteoglycan family.[supplied by OMIM] 1580863 15489334,14702039,12975309,12477932,11751414,12810672 50859 NM_001040159,NM_016950,AC010103,AC020599,AC023492,AC107210,CH471056,AB056866,AJ001454,AK091078,AY358973,BC000460,BC003017,BC013983,BI603782,CR607485 NP_001035249,NP_058646,AAY40993,AAY40960,EAX04811,EAX04812,BAB64908,CAA04775,AAQ89332,AAH00460,AAH03017,AAH13983,Q4W5E2,Q4W5S3,Q9BQ16 Hs.481133 HSAJ1454|TES-3 protein-coding 1343453 SPON1 spondin 1, extracellular matrix protein 16965763,16303743,16103746,15489334,14983046,14702039,12477932,12168954,12096136,11368520,9872452,8889548,1555244 10418 NM_006108,AC011084,AC074191,AC099738,CH471064,CQ783692,AB018305,AB051390,AI424944,AK001584,AK074803,AK291780,BC019825,BC041974,BM671036,CR601227 NP_006099,EAW68488,EAW68489,CAF86814,BAA34482,BAB18461,BAC11217,BAF84469,AAH19825,AAH41974,Q3ZCT3,Q9HCB6 Hs.705394 GDB:9956949 KIAA0762|MGC10724|f-spondin protein-coding 1352786 SPON2 spondin 2, extracellular matrix protein 1580863 10512675,16303743,15489334,14702039,12975309,12477932 10417 NM_012445,AC092535,CH471131,CQ782706,AB027466,AK024499,AK074618,AK074770,AK130164,AY358948,BC002707,BC036341,CR592321,CR593652,CR594320,CR595091,CR596195,CR596311,CR596362,CR597252,CR604996,CR607322,CR608748,CR610928,CR612649,CR626363 NP_036577,AAY40988,EAW82604,EAW82605,EAW82606,CAF85941,BAA85892,BAB15789,BAC11092,BAC11196,AAQ89307,AAH02707,AAH36341,Q4W5N4,Q9BUD6,Q9H7I1 Hs.302963 GDB:9956943 DIL-1|DIL1|M-spondin|Mindin protein-coding 1323163 SPOP speckle-type POZ protein This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. 1580863 17353931,9414087,18218622,16740475,16651542,16524876,16381901,16189514,15897469,15489336,15489334,15240113,15121856,14702039,12740575,12477932,12426565,12426564,12183056,11279055,11076863,10426994,9373149,8889548,8125298 8405 NM_001007229,NM_001007227,NM_001007230,NM_003563,NM_001007226,AC006487,AC015795,CH471109,AJ000644,AK123385,NM_001007228,AK293045,AW449169,BC001269,BC003385,BM693397,BQ226031,BX282325,CB992730,CR590571,CR592684,CR595427,CR595475,CR603514,CR610467,W84567,AK222589 NP_001007229,NP_001007230,NP_001007228,NP_001007231,NP_003554,NP_001007227,EAW94671,EAW94672,EAW94673,EAW94674,EAW94675,CAA04199,BAD96309,BAF85734,AAH01269,AAH03385,O43791,Q0JUC5,Q0JV51,CAL37466,CAL37521,CAL37609,CAL37886,CAL38444,CAL38701 Hs.463382,Hs.705881 GDB:9865063 TEF2 protein-coding 1605812 SPOPL speckle-type POZ protein-like 16740475,16651542,15489334,14702039,12477932 339745 NM_001001664,AC092620,AC114763,CH471058,AK094583,BC071613,BX538143 NP_001001664,EAX11609,AAH71613,Q6IQ16,Q9HAB2 Hs.333297 protein-coding 736066 SPP1 secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1) 1581118,1581125,1581321,1581322,1581323,1581324,1581325,1581326,1581327,1581328,1581329,1581330,1581331,1581332,1581333,1581334,1581335,1581336,1581337,1581338,1581339,1581341,1581342,1581343,1581357,1581358,1581359,1581360,1581361,1581362,1581363,1581364,1581365,1581366,1581367,1581368,1581369,1581370,1581371,1581372,1581374,1581375,1581381,1581382,1581383,1581386,1581390,1581391,1581472,1580863 16633066,16632752,16614705,16571650,16533775,16512757,16489073,16433860,16428483,16424021,16381901,16373617,16344560,16331611,16303743,16299231,16208410,16204248,16199891,16189514,16166420,16145474,16136472,18443355,18406574,18396783,18335026,18317949,18197854,18181047,18178454,18174176,18167187,18162078,18158320,18155656,18085382,18079410,18072945,18053633,18048491,18037740,18004082,17987038,17960616,17938278,17898038,17896150,17884775,17852826,17848618,17721886,17696803,17689681,17620367,17595250,17565744,17548669,17545592,17519954,17496055,17493236,17482311,17482182,17464350,17452979,17444956,17439891,17418101,17384004,17369493,17360982,17343740,17332338,17316167,17289872,17245215,17227585,17189522,17188882,17170369,17130676,17110905,17044113,17022822,17005603,16962083,16880782,16830223,16817793,16807684,16807238,16797773,16786357,16765311,16741188,16713569,16100012,16047475,16009426,16005200,16000556,15998773,15998376,15993098,15970685,15956076,15954903,15949549,15885319,15869464,15868370,15863395,15857938,15855273,15845635,15776015,15761492,15744522,15742430,15742429,15731245,15712659,15696579,15692970,15579312,15501463,15494684,15489336,15489334,15479859,15389974,15167446,15101999,15019804,15014008,15004750,15003892,14996707,14990565,14988426,14716823,14706653,14704150,14592838,14563350,14534308,14524533,14517343,12952171,12949055,12939547,12928913,12927044,12879219,12847283,12842452,12771144,12761568,12706004,12650611,12650610,12640447,12620651,12606946,12569382,12527107,12506143,12477932,12456016,12377945,12142743,11979972,11968014,11940202,11933203,11928818,11926891,11861425,11854181,11825898,11807984,11801541,11787071,11721059,11696986,11375993,11076863,10835423,10766759,10751402,10748043,10698186,10657301,10593924,9110174,8910476,8835534,8663267,8619474,8535605,8325891,8195113,7945249,7837791,7665163,7592829,7532190,7522656,2808373,2736258,2726470,2404984,1974876,1729712,1575754,1107524 1581118,1581125,1581321,1581322,1581323,1581324,1581325,1581326,1581327,1581328,1581329,1581330,1581331,1581332,1581333,1581334,1581335,1581336,1581337,1581338,1581339,1581341,1581342,1581343,1581357,1581358,1581359,1581360,1581361,1581362,1581363,1581364,1581365,1581366,1581367,1581368,1581369,1581370,1581371,1581372,1581374,1581375,1581381,1581382,1581383,1581386,1581390,1581391,1581472 6696 CR613613,CR614122,CR614125,CR614191,CR615073,CR615383,CR615698,CR616615,CR616812,CR617116,CR617515,CR618080,CR618220,CR618369,CR618594,CR618956,CR619414,CR619578,CR619881,CR620974,CR621274,CR621360,CR621428,CR621889,CR622075,CR623036,CR624029,CR624157,CR624176,CR624416,CR624537,CR624945,CR625643,CR625710,CR625747,CR626471,CR626718,D28759,D28760,CR613454,NM_001040058,NM_000582,NM_001040060,AC131944,CH471057,D14813,U20758,AA665210,AB209987,AF052124,AK057738,AK075463,AK290090,AK290104,AY956318,BC007016,BC017387,BC022844,BC093033,BF699765,BX648003,CB117856,CR590548,CR590765,CR591447,CR591466,CR591781,CR591902,CR592228,CR592500,CR593010,CR593792,CR593987,CR594254,CR594618,CR594667,CR594911,CR594979,CR595305,CR596445,CR596475,CR597399,CR597759,CR599125,CR600336,CR600682,CR600714,CR600744,CR601143,CR601537,CR602328,CR602900,CR603218,CR603247,CR604739,CR605902,CR606646,CR607920,CR608403,CR608709,CR608820,CR609665,CR610220,CR610252,CR610312,CR610546,CR610609,CR610632,CR610677,CR611180,CR612096,CR612661,CR612712,CR613043,CR613121,CR613156,D28761,DA419665,DQ839491,DQ846870,DQ846871,J04765,M83248,X13694 BAA05949,BAA05950,NP_001035147,NP_000573,NP_001035149,AAY41035,EAX06004,EAX06005,EAX06006,EAX06007,EAX06008,EAX06009,EAX06010,BAA03554,AAA86886,BAE45628,AAC28619,BAC11635,BAF82779,BAF82793,AAX59003,AAH07016,AAH22844,AAH93033,AAH17387,BAA05951,ABI63352,ABI63357,ABI63358,AAA59974,AAA17675,CAA31984,P10451,Q0JV14,Q3LGB0,Q4W597,Q567T5,CAL37646,CAL37776,ABM83470,ABM86681 Hs.313 GDB:118889 BNSP|BSPI|ETA-1|MGC110940|OPN secreted phosphoprotein 1 protein-coding 1344565 SPP2 secreted phosphoprotein 2, 24kDa 1580863 7814406,15815621,15489334,15062857,12477932,9533032 6694 NM_006944,AC006037,AJ272265,CH471063,AJ308099,BC069401,BC106705,BC112438,BC113972,CR607621,U20530 NP_008875,AAX93090,CAB75571,EAW71070,CAC87050,AAH69401,AAI06706,AAI12439,AAA87905,Q13103 Hs.444488 GDB:3811671 SPP24 protein-coding 1602994 SPPL2A signal peptide peptidase-like 2A This gene is a member of the signal peptide peptidase-like protease (SPPL) family and encodes an endosomal membrane protein with a protease associated (PA) domain. This protein plays a role in innate and adaptive immunity. A pseudogene of this gene also lies on chromosome 15. 17965014,17557115,16829952,16344560,16303743,16189514,15489334,15385547,14702039,12477932,12139484,12077416 84888 NM_032802,AC012100,CH471082,AA988423,AJ345028,AJ420896,AK027446,AK075454,AY169314,BC025740,CR626792,DA023801 NP_116191,EAW77410,CAC87789,CAD13133,BAB55117,BAC11630,AAO12539,AAH25740,Q8TCT8 Hs.401537 IMP3|PSL2 protein-coding 1601988 SPPL2B signal peptide peptidase-like 2B This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. 17965014,16829952,16829951,15998642,15489334,15385547,15057824,12477932,12139484,12077416,10819331,8889548 56928 NM_001077238,NM_152988,AC004410,AC005258,BC028391,BC093046,CH471139,AB040965,AJ345027,AJ420897,AK226130,AL365405,AY169315,BC001788,BU733058,CR602216,CR613332,CR624124 NP_001070706,NP_694533,AAC05601,AAH01788,AAH28391,AAH93046,AAG45441,EAW69383,EAW69384,EAW69385,EAW69386,EAW69387,EAW69388,BAA96056,CAC87788,CAD13134,CAB96951,AAO12540,Q8TCT7 Hs.700687 IMP4|KIAA1532|MGC111084|PSL1 protein-coding 1605007 SPPL3 signal peptide peptidase 3 16873890,15998642,15489334,15385547,14702039,12975309,12477932,12139484,12077416,9373149,8125298 121665 NM_139015,AC069214,AC069234,AL834399,CH471054,AB252457,AF086117,AI676074,AJ345030,AJ420898,AK074916,AK097149,AK223590,AK291161,AL110147,AY169313,AY358767,BC009551,BC025781,BC073910,BC101625,BC101627,BU932077,BX640849,CR595697,CR612222,CR620843,CR626296 NP_620584,EAW98220,EAW98221,EAW98222,EAW98223,BAF30928,CAC87791,CAD13135,BAC11290,BAD97310,BAF83850,CAB53661,AAO12538,AAQ89127,AAH09551,AAH25781,AAH73910,AAI01626,AAI01628,Q3MJ04,Q53EP9,Q6UWJ2,Q8TCT6,Q9UG23 Hs.507087,Hs.683964 DKFZp586C1324|IMP2|MDHV1887|MGC126674|MGC126676|MGC90402|PRO4332|PSL4 protein-coding 1346391 SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. 1600054,1580863 1883349,9792819,15197144,17270157,17188538,16443856,15489334,15241655,12477932,11825621,11443547,10384371,9700606,9373149,8440319,8304109,8125298,7782081,3536512 1600054 6697 AB017547,AB017548,AC012366,AC092630,CH471053,AK222942,AK291856,BC017310,BF434649,M76231,S71376,NM_003124 ABM82625,ABM85806,NP_003115,BAA34534,BAA34535,AAY14743,AAY15035,EAW99757,EAW99758,BAD96662,BAF84545,AAH17310,AAA60314,AAD14079,P35270,Q93041,Q9UEC5 Hs.301540 GDB:128778 protein-coding 1318683 SPRED1 sprouty-related, EVH1 domain containing 1 The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). 18216281,17974561,17704776,17672918,16652141,16344560,16115197,15683364,15465815,15231748,14702039,12646235,12477932,11493923 161742 NM_152594,AC069381,AL833561,CH471125,AK091222,AK095219,AY299089,BC018015,DA405650 NP_689807,EAW92368,BAC03614,AAP59414,AAH18015,Q7Z699 Hs.525781 FLJ33903|NFLS protein-coding 1319580 SPRED2 sprouty-related, EVH1 domain containing 2 SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM] 1580863 17094949,16652141,15946934,15683364,15580519,15489334,15465815,15213456,15184877,14981116,14702039,12646235,12477932,11493923,9110174,8619474 200734 NM_181784,AC012370,AC097503,CH471053,AF052178,AK025550,AK056479,AY299090,BC029300,BC111495,BC130292,BC136334,CR609442 NP_861449,EAW99904,EAW99905,EAW99906,AAP59415,AAI11496,AAI30293,AAI36335,Q7Z698 Hs.59332 FLJ21897|FLJ31917|MGC163164|Spred-2 protein-coding 1606081 SPRED3 sprouty-related, EVH1 domain containing 3 SPRED3 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM] 16478641,15465815,14618415,12646235 399473 NM_001042522,NM_001039616,AC005789,DQ323927,DQ323928 NP_001035987,NP_001034705,ABC54711,ABC54712,Q2MJR0,Q2MJR1 Hs.448932 Eve-3 protein-coding 1602790 SPRN shadow of prion protein homolog (zebrafish) 15342797,14527721,12477932,9776767,8889548 503542 NM_001012508,AL161645,BN000518,AK123191,AW293555,BC040198,CD580523 NP_001012526,CAG34288,BAC85553,AAH40198,Q5BIV9 Hs.64968 FLJ41197|SHADOO|SHO|bA108K14.1 protein-coding 1320715 SPRR1A small proline-rich protein 1A 1580863 10908733,8325635,15489334,12477932,11850458,11279051,11076863,10066784,9931436,9115270,9008234,8018055,7829876 6698 NM_005987,AL356867,AY755659,CH471121,L05187,AW204307,BC105081,BC105083,S73288 NP_005978,CAI19801,AAU88143,EAW53355,EAW53356,EAW53357,AAC26838,AAI05082,AAI05084,P35321,Q5T527,AAI11840 Hs.46320 GDB:136393 SPRK protein-coding 1323772 SPRR1B small proline-rich protein 1B (cornifin) 1580863 10908733,1627333,1438308,18172072,16710414,15489334,12832281,12477932,12091247,9115270,8889548,8631988,8388378,8325635,7829876,3133554,1482123 6699 NM_003125,AL356867,AY787223,CH471121,M84757,BC056240,CK300778,DQ323996,M19888,M21300,M21301 NP_003116,CAI19805,AAV40826,EAW53351,AAA36643,AAH56240,ABC88598,AAA36636,AAA36637,AAA36638,P22528,Q2I377,AAI56327,AAI57077 Hs.1076 GDB:136394 CORNIFIN|GADD33|MGC61901|SPRR1 protein-coding 1352721 SPRR2A small proline-rich protein 2A 1580863 12624109,8325635,16639001,18155796,16710414,15489334,15232223,12477932,10737800,9826750,8999895,8816448,2388825 6700 NM_005988,AL356867,CH471121,X53064,BC096108,BC096109,BC096110,BC096111,BC128049,BE710686,CA433267 NP_005979,CAI19807,EAW53346,EAW53347,CAA37239,AAH96108,AAH96109,AAH96110,AAH96111,AAI28050,P35326 Hs.355542 GDB:136396 protein-coding 1348618 SPRR2B small proline-rich protein 2B 1580863 8325635,16710414,16639001,15232223,14748073,11279051,9722562,3133554 6701 NM_001017418,AF333952,AL356867,CH471121,L05188 NP_001017418,AAK70940,CAI19808,EAW53345,AAA60576,P35325,AAI48720 Hs.568239 GDB:136397 protein-coding 1345846 SPRR2C small proline-rich protein 2C (pseudogene) 1580863 3133554,8325635,15232223,11279051 6702 NR_003062,AF333953,AL157405,L05190,M21539 AAA66001,Q15515 Hs.2421 GDB:136398 pseudo 1344812 SPRR2D small proline-rich protein 2D 8325635,3133554,16639001,16710414,15232223,12786819,12477932,11329013,11279051,9888996 6703 NM_006945,AF333954,AL356867,CH471121,AI383975,AI860616,AK291317,BC093801,BC093803,BC120938,BG183546,M21302 NP_008876,AAK70941,EAW53348,EAW53349,EAW53350,BAF84006,AAI20939,AAA36640,P22532,AAI41464 Hs.505327 GDB:136399 protein-coding 1354484 SPRR2E small proline-rich protein 2E 9722562,3133554,8325635,16710414,15232223,12477932,11279051,9888996 6704 NM_001024209,AF333955,AL139417,CH471121,BC058018,M20030 NP_001019380,AAK70942,CAI21953,EAW53344,AAA36639,P22531,AAI48549,AAI53137 Hs.568518 GDB:136400 protein-coding 1350197 SPRR2F small proline-rich protein 2F 8325635,16710414,15232223,11279051,9888996 6705 NM_001014450,AF333956,AL139417,CH471121 NP_001014450,AAK70943,CAI21954,EAW53343,Q96RM1,AAI56789 Hs.490252 GDB:136401 protein-coding 1347541 SPRR2G small proline-rich protein 2G 8325635,16710414,15232223,12477932,11279051,9888996 6706 AF333957,AL157405,CH471121,AA456642,AA490630,BC130455,BC133041,NM_001014291 AAK70944,CAI19766,EAW53341,Q9BYE4,AAI41501,AAI48781,NP_001014313 Hs.490253 GDB:136402 protein-coding 1354373 SPRR3 small proline-rich protein 3 1580863 10510474,9889002,8325635,17935133,16710414,16344560,15489334,15232223,15221970,14761935,14748073,12786819,12477932,12036303,11443109,11279051,11230159,10737800,9724607,8999895,8809402,8018055,7829876 6707 NM_005416,NM_001097589,AF077374,AL356867,CH471121,DQ017955,AJ243667,AY118269,BC017802,BF826427,BM955458,DA451130,DA763011,EF553525 NP_005407,NP_001091058,AAD11938,CAI19802,CAI19803,EAW53353,EAW53354,AAY26394,CAB65098,AAM74559,AAH17802,ABQ66270,Q5T526,Q9UBC9 Hs.139322 GDB:136403 protein-coding 1350265 SPRR4 small proline-rich protein 4 1580863 16710414,15489334,12477932,11719550,11279051 163778 NM_173080,AF335109,AL356867,CH471121,BC069445,BC069549,BC112170,BC112172 NP_775103,AAK96400,CAI19800,EAW53358,AAH69445,AAH69549,AAI12171,AAI12173,Q96PI1 Hs.433629 MGC138375|MGC138377 protein-coding 1319561 SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 1580863 12593796,15962011,16954433,16877379,15950061,15489334,14533010,12869526,12477932,12402043,11983899,10887178,9458049 10252 NM_199327,NM_005841,AC026402,CH471056,AF041037,AK026960,AY192146,AY590694,BC063856 NP_955359,NP_005832,EAX05209,EAX05210,EAX05211,AAC39566,AAP20102,AAT06102,AAH63856,O43609 Hs.436944 GDB:9835921 hSPRY1 protein-coding 1322949 SPRY2 sprouty homolog 2 (Drosophila) This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. 1580863 9458049,18214995,18070883,18048363,17693063,17689925,17510316,17496316,17388787,17320394,17255109,16954433,16877379,16489004,16479008,16381901,16371366,16327884,16189514,16126775,15962011,15950061,15735753,15653567,15564375,15489336,15489334,15351707,15313890,15201220,15122328,15057823,15031289,12815057,12717443,12593796,12477932,12414790,12402043,12391162,12234920,11983899,11698404,11230166,11076863,11053437,10940627,10887178,16000370 10253 NM_005842,AL354668,CH471093,AF039843,BC004205,BC015745,BX648582,CR599246,AL713749 NP_005833,CAI14911,EAW80601,AAH04205,AAH15745,O43597,Q0JSN9,Q7Z783,CAL37872,CAL38475,AAC04258,CAD28524 Hs.18676 GDB:9835922 MGC23039|hSPRY2 protein-coding 1349769 SPRY3 sprouty homolog 3 (Drosophila) 1580863 15950061,15489334,14702039,12477932,12391162,10887178,10655549,9458049,16877379,16500999 10251 NM_005840,AJ271735,CH471247,AF041038,AK094610,AK125483,AK289543,BC069609,BC074972,BC074973 NP_005831,CAB96768,EAW55876,AAC39567,BAC86177,BAF82232,AAH69609,AAH74972,AAH74973,O43610,Q6ZUP3 Hs.381912 GDB:9835923 HSPRY3 protein-coding 1313286 SPRY4 sprouty homolog 4 (Drosophila) SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma et al., 2002 [PubMed 12027893]).[supplied by OMIM] 1580863 12027893,18298822,16877379,16465403,16388505,16344560,14977631,14702039,12717443,12477932,7566098 81848 NM_030964,NM_001127496,AC091825,AY538661,AF227516,AF251060,AK096464,AK226147,BC125095,BC125096,BP387943,CR605362,DA183391,T32786 NP_112226,NP_001120968,AAS46253,AAK00652,AAK34950,BAC04798,AAI25096,AAI25097,Q9BXY1,Q9C004 Hs.323308 GDB:11507937 protein-coding 1602855 SPRYD3 SPRY domain containing 3 14702039,12477932,9110174,8619474 84926 NM_032840,AC068888,AC073573,CH471054,AF131774,AK027706,AK074566,AK074694,BC019624,CR619327 NP_116229,EAW96661,EAW96662,EAW96663,BAB55311,BAC11064,BAC11144,Q8N2P1,Q8NCJ5 Hs.343334 FLJ14800 protein-coding 1603522 SPRYD4 SPRY domain containing 4 16344560,15489334,12477932 283377 AC097104,CH471054,CS072397,AF289571,AF451989,AK074733,AK291920,AL832247,BC020844,BX647957,CR597464,CR601006,CR618271,CR624785,DB041397,NM_207344 EAW96941,CAI93535,AAL55755,AAP97688,BAF84609,AAH20844,Q8WW59,Q8WZ21,NP_997227 Hs.128676 DKFZp686N0877 protein-coding 1350301 SPRYD5 SPRY domain containing 5 16189514,12477932 84767 NM_032681,AC036111,CH471076,BC005014 NP_116070,EAW73689,AAH05014,Q9BSJ1,EAW73688 Hs.326734 MGC10977|TRIM51 protein-coding 1604788 SPSB1 splA/ryanodine receptor domain and SOCS box containing 1 16710414,16498413,15713673,15489334,14702039,12477932,12076535,9373149,9110174,8619474,8125298 80176 NM_025106,AL008734,AL358252,CH471130,AB209559,AF131840,AF403026,AK026046,AK130055,AK225417,BC005852,BC015711,CR609804 NP_079382,CAM12843,CAM12844,CAI14376,EAW71617,EAW71618,BAD92796,AAL57345,BAB15335,BAC85287,AAH05852,AAH15711,Q6ZP38,Q96BD6 Hs.8261,Hs.705454 SSB-1|SSB1 protein-coding 1603193 SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 15489334,12477932,12076535,9074930,8723724 84727 NM_032641,CH471116,U47924,AF403027,BC002983,BC071933 NP_116030,EAW88719,EAW88720,AAB51328,AAL57346,AAH02983,AAH71933,Q99619 Hs.479856 GRCC9|MGC2519|SSB-2|SSB2 protein-coding 1603939 SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 15489334,12477932,12076535,11157797 90864 AC012180,NM_080861,CH471112,AF403028,AK057850,AK074190,BC007588,BC024244,BC035065,BC041897,BC047441,BC065515,BI768095,BM836743,BQ930544,CR590538,CR591468,CR592259,CR594533,CR594897,CR595592,CR596537,CR598252,CR601897,CR604082,CR605628,CR608229,AE006639,CR609820,CR610957,CR611923,CR612312,CR617347,CR620383,CR622113,CR624932 NP_543137,AAK61293,EAW85618,EAW85619,EAW85620,EAW85621,EAW85622,EAW85623,EAW85624,AAL57347,BAB71594,AAH07588,AAH24244,AAH41897,AAH47441,Q6PJ21,Q96LS6 Hs.592080 C16orf31|SSB3 protein-coding 1603370 SPSB4 splA/ryanodine receptor domain and SOCS box containing 4 15489334,14702039,12477932,12076535 92369 AK056147,AK056367,BC008324,BC051354,CR593903,NM_080862,AC022215,AC108727,CH471052,AF086345,AF403029 AAL57348,BAB71165,AAH08324,Q96A44,NP_543138,EAW79010 Hs.655112 SSB-4|SSB4 protein-coding 1313077 SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. 1599111,1580863 1634521,9593709,12820899,17977835,17905835,17885671,17414207,16841024,16551696,16407147,16336193,16171554,16150946,15795915,15492010,15456760,15203218,12432217,12196550,12105217,11165260,10852813,10551855,10215350,10187839,9889281,9573679,9414314,9192783,9163587,9075575,9005995,8844207,8626479,8486776,8434258,8364215,8226774,8193371,8102379,8094577,8040317,8018926,7929303,7883966,7772539,7104494,6654896,6654895,6472478,6215583,3600811,3597773,3580577,3458204,3268039,3027087,3000887,2936753,2807277,2794061,2568862,2568861,2384601,2346784,2056132,1878597,1845156,1689726,1679439,1672285,1638030,1541680,1391962,1339473,12119179,8997639,1991513,14625392,12571280,2070088 1599111 6708 NM_003126,AL353894,AY138967,CH471121,M13233,M29994,M61826,AF060556,BU665064,CD616351,M11049,M61877 NP_003117,CAH73936,CAH73937,EAW52816,EAW52817,EAW52818,EAW52819,AAA53103,AAA60575,AAA60994,AAC15757,AAA60569,AAA60577,O60686,P02549,Q5VYL1,Q5VYL2 Hs.119825 GDB:119601 EL2|SPTA protein-coding 733239 SPTAN1 spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) 1580863 11971983,11856323,11509555,11274145,11069925,10874042,10862698,10625438,10579058,10576550,10551855,10521589,9890967,9811849,9670010,9642272,9593709,9209005,8993318,8663089,8163551,7642559,7607240,3691949,3336352,3121319,3038643,3027087,2971657,2970468,2939097,2141335,1905928,1902666,492324,12119179,11401546,12571280,14743216,14623284,10571082,2307671,9624143,17081983,16889989,16192640,15948206,15673434,15656790,15489334,15342556,15302935,15164053,14702039,14593108,12893251,12820899,12630566,12477932,12446661,12049649,12044158 6709 NM_003127,AF148808,AL356481,CH471090,AB191262,AB209860,AK026484,AK126576,AL110273,BC034956,BC051801,BC053521,BP200529,CR594002,CR594344,CR610266,CR611709,CR618190,J05243,M18627,M19725,M24773,U26396,U83867,X86901 NP_003118,AAF26672,CAH71404,CAH71405,EAW87805,EAW87806,EAW87807,EAW87808,EAW87809,EAW87810,EAW87811,EAW87812,EAW87813,BAD52438,BAD93097,CAB53710,AAH53521,AAA51790,AAA51702,AAA59904,AAA52468,AAB60364,AAB41498,CAA60503,Q13813,Q14917,Q9UG16 Hs.372331 GDB:120385 (ALPHA)II-SPECTRIN|FLJ44613|NEAS alpha-spectrin 2 protein-coding 1349727 SPTB spectrin, beta, erythrocytic (includes spherocytosis, clinical type I) 1599118,1580863 10477754,10037687,9890967,9450796,9414314,9163587,9005995,8889548,8844207,8675627,8663089,8341682,8102379,8018926,7962054,7883966,7673158,7104494,6743699,6472478,6215583,3580577,3478706,10751147,3390609,2346784,2243099,16060676,8226774,18202182,17977835,17520478,16476728,15492010,15065869,14702039,14593108,12743109,12665801,12655374,12477932,12354383,12038451,11703334,11427698,11418000,2209094,2195026,2070088,2056132,1976574,1975598,1840591,1634521,1391962,12119179 1599118 6710 NM_001024858,NM_000347,AF013172,AF013173,AF013174,AF013177,AF013178,AF013181,AF013184,AF013187,AL121774,CH471061,AB209415,AF465439,AK094815,AK126627,BC010434,BC136284,BC136285,BM681142,BX248270,J05500,M18054,M37884,M37885,M57948,X59510,X59511 NP_001020029,NP_000338,AAC02786,AAC02787,AAC02788,AAC02789,AAC02790,AAC02791,AAC02792,AAC02793,EAW80875,EAW80876,EAW80877,EAW80878,EAW80879,EAW80880,EAW80881,EAW80882,BAD92652,AAL73492,AAH10434,AAI36285,AAI36286,CAD62598,AAA60578,AAA60579,AAA60572,AAA63259,AAA60571,CAA42097,CAA42098,O14724,O14725,O14726,P11277,Q59FP5,Q71VF8,Q71VF9,Q71VG0,Q71VG1,Q71VG2,Q86TX9,Q8WX82 Hs.417303 GDB:119602 HSpTB1 protein-coding 1351608 SPTBN1 spectrin, beta, non-erythrocytic 1 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 1527002,9537418,18262053,17905835,17716929,17620337,17546056,17088250,17081983,14743216,15688033,17074766,16083285,15345747,15342556,15324660,15302935,15262991,15231748,14702039,12901833,12543979,12522145,12477932,11665863,11535133,11274145,10806113,9989581,9817844,9798950,9164454,8991093,8889548,8688828,8406479,2474519,12119179,15116094 6711 AF327441,AJ005694,AK023762,AK025071,AK093946,AL117605,BC009640,BC032061,BM679686,BP218428,BP312037,AB209748,AF218848,NM_003128,CR980403,S65762,NM_178313,AC092839,AC093110,AJ238723,CH471053,AB209551 AAO15362,CAA06678,BAD92788,BAD92985,AAL56651,AAB28324,Q01082,Q53RC4,Q59FA9,Q8WYB3,NP_003119,NP_842565,AAX93104,AAY24229,CAB91088,EAX00137,EAX00138,EAX00139,EAX00140,EAX00141,EAX00142,EAX00143,EAX00144,EAX00145,EAX00146,EAX00147 Hs.503178,Hs.705692 GDB:120386 ELF|SPTB2|betaSpII protein-coding 731487 SPTBN2 spectrin, beta, non-erythrocytic 2 1580863 17940722,17081983,16429157,15148151,12820899,12477932,12421765,11461920,10852813,9704016,9675416,9205841,7874171,12119179,9826670 6712 NM_006946,AP001157,CH471076,AB008567,AF026487,AF026488,AF079569,BC122522,BC131819,BC139788 NP_008877,EAW74559,EAW74560,EAW74561,BAA32700,AAC79502,AAC79503,AAC79504,AAC80006,AAI39789,O15020 Hs.26915 GDB:9120550 GTRAP41|SCA5 protein-coding 1312269 SPTBN4 spectrin, beta, non-erythrocytic 4 Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 11086001,11294830,12812986,17081983,16344560,14702039,12421765,11807096,10997877,12119179,12506198 57731 NM_020971,NM_025213,AC020929,CH471126,AB046862,AF082075,AF311855,AF311856,AF324063,AF324064,AI962525,AK054915,AL133093,AY004226,AY004227,CR613374,DA514440 NP_066022,NP_079489,EAW56973,EAW56974,EAW56975,EAW56976,EAW56977,EAW56978,BAB13468,AAG38874,AAG42473,AAG42474,AAQ14860,AAQ14859,BAB70827,CAB61407,AAF93171,AAF93173,Q71S06,Q71S07,Q96NQ2,Q9H253,Q9H254,Q9UFA1 Hs.32706 GDB:11504579 KIAA1642|QV|SPNB4|SPTBN3 protein-coding 1322297 SPTBN5 spectrin, beta, non-erythrocytic 5 1580863 10764729,18048348,12119179 51332 NM_016642,AC020659,CH471125,AF233523,BF515053 NP_057726,EAW92523,AAF65317,Q9NRC6 Hs.709819 GDB:11504447 BSPECV|HUBSPECV|HUSPECV protein-coding 1315336 SPTLC1 serine palmitoyltransferase, long chain base subunit 1 Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. 1580863 10722759,10722674,10713067,16189514,17353931,9363775,18018475,17982236,17331073,17194770,16210380,15467453,15164053,15037712,14152213,12477932,12445191,11479835,11242114,11242106 10558 Y08685,NM_006415,NM_178324,AF286717,AL354751,AL391219,CH471089,AB209757,AF147304,AK098344,AK291546,BC007085,BC068537,CR594157,CR615416 CAA69941,O15269,Q59EQ4,Q6NUL7,Q96IX6,NP_006406,NP_847894,AAK29328,CAH69923,CAH69924,EAW62804,EAW62805,EAW62806,BAD92994,BAF84235,AAH07085,AAH68537 Hs.90458 GDB:9957656 HSAN|HSAN1|HSN1|LBC1|LCB1|MGC14645|SPT1|SPTI protein-coding 1354205 SPTLC2 serine palmitoyltransferase, long chain base subunit 2 This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified. 1580863 9628581,8921873,8889549,7506601,16189514,9363775,17331073,17194770,17081983,15489334,12508121,12477932,12445191,12207934,10737800,10722674 9517 NM_004863,AF111168,CH471061,AB011098,BC005123,BG024616,BM992457,BQ338973,U15555,W24363,Y08686 NP_004854,AAD09621,EAW81297,EAW81298,EAW81299,BAA25452,AAH05123,AAC50871,CAA69942,O15270,ABM84223,ABM87785 Hs.435661 GDB:9957225 KIAA0526|LCB2|SPT2 protein-coding 1351339 SPTLC3 serine palmitoyltransferase, long chain base subunit 3 Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]).[supplied by OMIM] 1580863 17331073,17023427,16303743,15489334,14702039,12477932,11780052 55304 BC020656,BC038248,CF994231,CX870585,AL050320,AL109983,AL133331,AL445589,CH471133,AK001974,AK075271,AL844429,BC005205,NM_018327 AAH05205,AAH20656,Q5TD12,Q5TD14,Q8IV87,Q8N2H1,Q9NUV7,NP_060797,CAM27358,CAI22515,CAM28300,CAI12291,CAM13116,CAI13234,CAM16427,EAX10322,EAX10323,BAA92012,BAC11509 Hs.425023 GDB:11507941 C20orf38|FLJ11112|FLJ90790|SPTLC2L|dJ718P11|dJ718P11.1 serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2) protein-coding 1603901 SPTY2D1 SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 14702039,12477932 144108 NM_194285,AC112694,CH471064,AF086471,AF452716,AK096694,AK096760,AL834393,BC036844,BC056261,BX538046,BX641102,BX647798,BX648114,BX648478,CR749626 NP_919261,EAW68374,AAP13351,BAC04858,CAD39055,AAH36844,AAH56261,CAD97985,CAE46047,CAH10772,CAH18420,Q68D10 Hs.268668,Hs.659235 DKFZp686F1942|DKFZp686I068|FLJ39441 protein-coding 1606768 SPZ1 spermatogenic leucine zipper 1 15899793,15829580,15489334,15372022,15226296,14702039,12778315,12477932,11165476 84654 NM_032567,AC026410,CH471084,AF333098,AK098575,BC033798 NP_115956,EAW95847,EAW95848,AAK17995,BAC05340,AAH33798,Q9BXG8,ABM83049,ABM86243 Hs.519403 FLJ25709|NYD-TSP1 protein-coding 736675 SQLE squalene epoxidase Squalene epoxidase catalyzes the first oxygenation step in sterol biosynthesis and is thought to be one of the rate-limiting enzymes in this pathway. 1581398,1581399,1580863,1300048 9286711,17316888,16806233,16381901,15489336,14702039,12477932,12083769,11230166,11076863,10666321,9373149,8626488,8125298 1581398 6713 BC017033,BG772453,BX647400,BX647605,CR599266,D78129,D78130,NM_003129,AC009908,CH471060,AF098865,AK055357,AK225085 AAH17033,CAI46076,BAA11209,BAA22372,Q0JSS3,Q14534,Q5HYI4,Q9UNR6,CAL38441,ABM85583,NP_003120,EAW92079,AAD10823 Hs.71465 GDB:6113039 FLJ30795 protein-coding 1353757 SQRDL sulfide quinone reductase-like (yeast) 1580863 15489334,12477932,10810093,10224084,9373149,8125298 58472 NM_021199,AC090527,CH471082,AF042284,AF118085,AF151802,AK130140,AK222463,BC016836,CR591141,CR592868,CR598897,CR599046,CR604930,CR613954,CR615979,CR618471,CR619347,CR623774 NP_067022,EAW77319,EAW77321,EAW77324,EAW77326,EAW77328,AAD41160,AAF22029,AAD34039,BAD96183,AAH16836,Q53HW7,Q9UHS8,Q9Y6N5,ABM82372,ABM85551 Hs.511251 CGI-44 protein-coding 736484 SQSTM1 sequestosome 1 This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Mutations in this gene result in sporadic and familial Paget disease of bone. 1599121 8650207,14676191,12857745,8702753,18442140,18379713,18083707,17932931,17931355,17685470,17580304,17237936,17229007,17187080,17120186,17081983,17052185,16964243,16820172,16691492,16574459,16565220,16405664,16286508,16189514,16169070,16129434,16083285,16079148,16011831,15953362,15911346,15870274,15802564,15761153,15647816,15592455,15493999,15489334,15340068,15207768,15176995,15164150,15158159,15146436,15125799,14702039,14692700,14584883,12887891,12869526,12857950,12813044,12727313,12700667,12477932,12471037,12431995,12374763,12242277,12034707,11992264,11981755,11852044,11786419,11755531,11473345,11447312,11244088,10747026,10708586,10362795,10356400,9762895,9566925,8910285,8618896,8551575,9115287,8652557 1599121 8878 NM_003900,AC008393,AF060494,CH471165,AI333228,AK025146,AK094484,AK098077,AK226167,BC000951,BC001874,BC003139,BC005857,BC017222,BC019111,BC050631,BM800056,CR616283,CR619553,DC398116,U41806,U46751,U46752 NP_003891,AAC64516,EAW53786,EAW53787,AAH00951,AAH01874,AAH03139,AAH05857,AAH17222,AAH19111,AAA93299,AAC52070,AAC50535,Q13501,Q13502,Q9BRY4,ABM83804,ABW03518 Hs.437277 GDB:9957507 A170|OSIL|PDB3|ZIP3|p60|p62|p62B protein-coding 1353576 SRA1 steroid receptor RNA activator 1 This gene is involved in transcriptional coactivation by steroid receptors. There is currently data suggesting this gene encodes both a non-coding RNA that functions as part of a ribonucleoprotein complex and a protein coding mRNA. Increased expression of both the transcript and the protein is associated with cancer. 12943696,12909012,12477932,12444263,12163482,12118039,11818499,11250900,11103781,10485452,10199399,14517287,12565891,16848684,16773180,16607388,16540468,16152589,15607539,15498874,15489334,15351741,15327771,15180993,15147866,14715875,14702039 10011 AF293024,AF293025,AF293026,AF318361,AK024640,BC040043,CR595828,CR606827,NM_001035235,AC011399,CH471062,AF092038,DQ286291 AAG02114,AAG02115,AAG02116,AAL55868,AAH40043,NP_001030312,EAW62051,EAW62052,EAW62053,Q9HD15,AAI52789 Hs.655927 GDB:9954879 MGC87674|SRA|SRAP|STRAA1|pp7684 protein-coding 1602705 SRBD1 S1 RNA binding domain 1 14702039,12477932,9847074 55133 NM_018079,AC008179,AC012072,CH471053,AK001241,AK055896,AK056536,BC032538,CR615345 NP_060549,AAK52078,AAY14821,EAX00260,EAX00261,BAA91577,AAH32538,Q8N5C6 Hs.14229 FLJ10379 protein-coding 1350530 SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. 1580863,1581139,1601371,1601372,1601373,1580850,1641809 10846184,10871840,10838070,10787408,10777553,10777539,10734107,10698938,10688651,10681522,10657632,10635328,10544291,10527887,10482988,10467411,10462375,10458595,10455194,10455176,10395945,10391903,10362724,10358079,10339567,10206955,10205168,10187839,10092678,10075741,10070972,9988270,9880482,9867848,9837958,9837922,9819392,9819391,9792645,9786846,9748248,9710204,9701558,9687533,9687503,9655255,9632142,9621077,9584165,9566874,9560226,9507031,9388490,9344858,9278444,9261115,9208935,9195899,9182531,9178760,9174343,9118959,9096689,9024657,9016807,9012831,8978822,8953041,8941336,8940173,8918464,8910575,8900189,8885868,8878483,8876196,10195142,8849729,15774483,15749833,15746183,15735682,15696169,15695802,15689620,15688032,15647376,15637072,15623525,15623523,15618223,15588985,15583006,15564375,15546919,15546918,15532711,15528270,15522237,15522235,15498833,15494217,15489334,15485865,15467744,15456896,15363460,15342783,15337529,15304482,15297464,15286700,15276210,15272013,15271991,15254245,15229287,15184363,15175272,15143158,15122338,15117969,15094065,15075377,15069201,15062576,15062102,15060621,15033452,15001550,14963038,14766744,14761972,14739293,14707140,8070403,9020193,8681387,9763511,11520933,9924018,17848177,10858437,11124251,8845374,9028946,12506110,12907686,15574420,18397177,18251740,18211905,18209475,18180305,18156174,18089800,18086662,18070925,18063684,18057010,18024423,17997837,17974954,17967179,17934522,17855352,17849451,17804738,17803936,17785844,17716980,17691821,17641225,17630833,17620427,17593353,17574549,17553930,17537435,17537434,17510314,17471235,17443665,17369846,17325034,17317726,17307333,17224200,17215324,17192257,17135298,17088251,17062641,17056000,17046078,17038311,17030621,17018524,16959222,16951177,16894533,16891307,16882656,16862215,16844778,16837460,16825188,16728403,16690617,16636672,16619028,16569657,16543952,16523241,16492668,16479011,16465417,16441665,16440311,16414009,16412380,16407214,16377083,16371650,16322069,16317091,16260653,16186108,16168436,16163059,16158247,16158055,16055703,16027153,16020549,16002577,15872089,15872086,15853660,15851033,15845350,15835917,15818752,15788656,15782139,15777850,14706618,14702039,14688263,14687660,14676843,14670955,14661060,14627343,14617636,14562045,14551213,14523024,14517306,14504278,12975382,12972425,12947321,12939401,12933816,12932824,12907754,12893822,12878163,12846735,12842760,12829810,12810717,12808100,12795607,12789267,12771149,12753909,12730241,12707358,12695509,12663375,12649275,12637538,12631284,12626508,12624098,12621061,12618767,12615930,12604776,12588871,12576423,12554790,12540962,12540842,12538589,12522270,12493773,12477932,12473651,12468645,12462387,12456372,12454018,12429837,12429743,12429742,12420216,12416028,12415108,12402152,12393736,12387813,12244095,12235291,12219031,12216109,12215529,12210743,12162444,12153558,12145209,12095943,12091389,12063167,12060669,12052863,12048194,12014986,12011079,11994743,11983694,11971983,11964172,11940607,11940572,11934902,11934669,11927607,11923305,11884411,11877451,11875070,11872746,11854294,11834728,11834516,11781820,11780052,11751924,11741929,11741599,11739737,11724572,11723131,11713277,11708798,11602604,11593413,11524430,11514593,11483655,11483589,11481331,11445557,11382764,11379820,11375989,11373296,11353545,11350938,11313464,11309200,11294897,11279201,11279199,11279024,11152665,11127814,11113628,11106497,11071635,11039464,11024032,11013230,11007774,10978326,10973497,10971656,10959835,10945997,10931187,10918587,10899172,10884433,15027889,12482968,11158331,10847592,10567404,11696545,10744074,15939018,7515480,8810341,7683128,15782160,9148935,15135048,8939605,12819203,10571082,9843378,7537265,15466214,8816475,8805332,8797825,8766817,8761480,8702721,8657134,8657103,8647855,8647432,8635998,8632005,8626374,8621384,8510939,8272872,8253717,8054685,7997267,7691597,7682059,7678701,7542762,7539106,7537495,7537362,7534286,7532003,7530249,7529876,7527558,7521304,7519780,7518772,7517401,7516469,7513429,7513017,7510703,6333425,6304688,6092965,3917576,3299057,2996780,2996754,2981336,2681803,2582238,2581127,2506951,2457390,2173144,1717825,1713455,1691439,1689310,1545818,1384654,1383690,1379745,1310678,16105876,16849330,15638726,15078178,12734410,9778343,10454579,11564893,11032808,16189514,12615911,12640114,12397603,10487518,10517671,12697812,12871937 1581139,1601371,1601372,1601373,1580850,1641809 6714 NM_005417,NM_198291,AF077754,AL034422,AL133293,AL390014,CH471077,K03218,X02647,AF272982,AK024281,AK091756,BC011566,BC051270,Z18364 NP_005408,NP_938033,AAC29427,CAC10573,CAC34523,EAW76062,EAW76063,EAW76064,EAW76065,EAW76066,EAW76067,AAA60584,CAA26485,BAB14871,AAH11566,AAH51270,P12931,Q71UK5,Q76P87,Q9H7V3 Hs.195659 GDB:120750 ASV|SRC1|c-SRC|p60-Src protein-coding 1606024 SRCAP Snf2-related CREBBP activator protein 10347196,17617668,17101442,16634648,16344560,16024792,15647280,14702039,14500758,12477932,11581372,9205841,8889548,11013263,10702287 10847 NM_006662,AC093249,AC106886,CH471192,AB002307,AF143946,AK023808,AK025382,AK126463,AK128030,AU140541,BC025284,BC063578,BC159099,BM677852,DA109400 NP_006653,EAW52212,EAW52213,EAW52214,BAA20768,AAD39760,BAC86558,BAC87237,AAH63578,AAI59100,Q6P4A2,Q6ZRS2,Q6ZTM8 Hs.647334 DOMO1|EAF1|FLJ44499|KIAA0309|SWR1 protein-coding 1315886 SRCRB4D scavenger receptor cysteine rich domain containing, group B (4 domains) The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM] 1580863 12477932,12466895 136853 NM_080744,AC005522,AJ306912,AJ306913,AJ306914,AJ306915,AJ306916,AJ306917,AJ306918,AJ306919,AJ306920,AJ306921,CH471220,AJ312755,AK172783,BC015651,BC113840,CR620510 NP_542782,CAC88128,EAW71806,CAC84764,BAD18764,AAH15651,AAI13841,Q8WTU2 Hs.567684 GDB:11507943 S4D-SRCRB|SRCRB-S4D protein-coding 736446 SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM] 1580863,1300048 1686016,18258185,18215136,18008328,17218734,17066438,16849416,16818707,16155734,16100771,15941927,15862960,15792368,15543614,15538746,15489334,15212687,15136785,15004407,14997014,14739525,14671189,12738739,12670724,12477932,11948017,11903314,11678334,10931946,9685215,9620288,9110174,8876709,8619474,8389478,7796940,7688765,6833469,4400474,2339109,1345916 6715 NM_001047,AC010366,AF073301,AF073302,AF073303,AF073304,AY341029,CH471102,M68886,AF052126,AF113128,BC006373,BC007033,BC008673,BT006834,M32313 NP_001038,AAC26862,AAC26863,AAC26864,AAC26865,AAP88935,EAX08103,EAX08104,AAA60995,AAC28620,AAF14869,AAH07033,AAH08673,AAP35480,AAA35490,P18405,ABM82463,ABM85652 Hs.552 GDB:127342 steroid 5 alpha-reductase 1 protein-coding 737503 SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). 1600067,1600059,1331525,1580863,1300048 1944596,18483391,18469342,18431743,18391540,18391525,18306354,18268111,18258185,18163429,18086758,18000232,17823934,17785571,17669147,17609295,17588204,17507624,12712437,12670724,12477932,12446983,12370109,12210487,12164325,12137870,12115497,12111704,12100746,12042668,11927504,11903314,11869378,11847524,11845321,11751447,11588134,11571725,11547131,11440959,11381197,11355945,11303586,11164181,10999800,10913941,10718838,10501358,10342882,9843052,9745434,9467575,9208814,9066886,17448593,17376218,17328668,17220347,17136762,17108148,16859836,16849416,16821341,16818707,16716118,16608396,16487406,16325991,16181229,16174723,16155734,16098368,16039774,16029630,16018939,15770495,15733480,15711606,15538746,15528927,15477877,15389785,15337247,15326487,15266301,15241822,15212687,15201804,15136785,15061984,14739525,14693733,14652280,14594182,12971967,12949937,12869400,12843198,12815006,12788885,12771801,12746845,12738739,8768837,8626825,7688765,7554313,1522235,1505484,1406794 1600067,1600059,1331525 6716 NM_000348,AB047857,AL133247,AY884245,CH471053,L03843,BC112252,BC113641,EF560740,M74047 P31213,NP_000339,BAB40419,AAW56942,EAX00478,AAI12253,AAI13642,ABQ59050,AAA60586 Hs.458345 GDB:127343 MGC138457 steroid 5-alpha-reductase 2 protein-coding 1604717 SRD5A2L2 steroid 5 alpha-reductase 2-like 2 12477932 253017 NM_001010874,AC023110,AC023156,AK290606,AL833108,BC072463,BX647590 NP_001010874,BAF83295,CAI46109,AAH72463,CAI46063,Q5HYJ1,Q6IN47 Hs.227752 MGC62104 protein-coding 1606233 SRD5A3 steroid 5 alpha-reductase 3 17986282,14702039,12477932 79644 NM_024592,AC064824,AC069200,CH471057,AK023414,BC002480,CR457312,CR594439,CR602749,CR613723,CR622639 NP_078868,AAY40904,EAX05465,BAB14568,AAH02480,CAG33593,Q9H8P0 Hs.590906 FLJ13352|SRD5A2L protein-coding 1353477 SRD5AP1 steroid-5-alpha-reductase, alpha polypeptide pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) 1686016 6719 NG_001196,AL008713,M68887 GDB:127344 pseudo 69473 SREBF1 sterol regulatory element binding transcription factor 1 This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. 1580863 17141191,17081983,17019602,16885156,16880739,16825193,16817902,16806233,16804073,16713569,16480961,16429400,16387548,16306078,16249184,16198472,16162944,16158080,16153721,16141315,16055439,16007182,16005884,15833942,15809359,15798184,15794649,15769984,17198935,17160088,15677507,15550381,15388640,15340088,15317819,15286454,15277400,15123650,15102555,15085196,15026365,14988272,14748724,14747281,14744869,14742839,14722127,14702039,14654692,14633850,12752570,12730330,12657626,12615929,12531699,12477932,12436350,12213084,12177166,12145339,12021179,11997338,11929849,11916923,11713202,11485982,11334418,11257259,10949029,10915800,10619424,10585876,10224053,9651391,9634703,9070916,9062340,8626610,8402897,8314806,8006035,7903453,7759101,8918891,8156598,16799563,16407292,18435918,18334917,18304434,18281474,18267114,18195716,18192539,18072016,18068676,18065496,17989724,17681345,17655842,17452746,17344645,17331464,17296605 6720 NM_004176,NM_001005291,NG_007101,AC122129,CH471196,AB209609,AB373958,AB373959,AK091131,AK095325,AK128320,BC023621,BC026962,BC057388,BC063281,BE208013,BI906407,CR616334,S66167,S66168,U00968 NP_004167,NP_001005291,EAW55688,EAW55689,EAW55690,EAW55691,BAD92846,BAG06742,BAG06743,AAH23621,AAH26962,AAH57388,AAH63281,AAB28522,AAB28523,AAC50051,P36956 Hs.592123 GDB:249853 SREBP1 protein-coding 730972 SREBF2 sterol regulatory element binding transcription factor 2 This gene encodes a ubiquitously expressed transcription factor that controls cholesterol homeostasis by stimulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain. 1581412,1581413,1581414,1581415,1581416,1581417,1581418,1581419,1581420,1625197,1580863 15527767,18195716,18072016,18032389,17921436,17702963,17604677,17383658,17198935,17142457,17008555,16901265,16806233,16763159,16697011,16466730,16335799,16227610,16158080,16141315,16082694,15798184,15721010,15547298,15489334,15461802,15388640,15358760,15211801,15085196,15026365,14988395,14765107,14702039,14645851,14500290,12855700,12842885,12801623,12615929,12477932,12242332,11485982,11283257,11149418,10896675,10627507,10619424,10591208,10397761,9990022,9927745,9508001,9139737,9070916,8918891,8900111,8643593,8626610,8605870,8402897,7759101,7903453,10976766,16014965 1581412,1581413,1581414,1581415,1581416,1581417,1581418,1581419,1581420,1625197 6721 NM_004599,AL021453,CH471095,D86746,Z99716,AL834221,BC051385,BC051799,BC056158,CR590277,CR590934,CT841522,U02031 NP_004590,CAI22917,EAW60469,EAW60470,EAW60471,BAC57590,CAI41688,CAQ07547,CAD38902,AAH51385,AAH51799,AAH56158,CAJ86452,AAA50746,Q05BD5,Q12772,Q8N8F0,Q8NCY3,CAK54615,CAK54914 Hs.443258 GDB:273625 SREBP2 protein-coding 1321393 SRF serum response factor (c-fos serum response element-binding transcription factor) This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). 1581423,1581424,1581425,1581426,1581427,1581428,1581473,1580754,1580863,1580749,1580753 3203386,16054032,17576768,18078809,17975004,17629633,17376895,17215356,17200232,17122890,17081983,16151017,15857835,15610731,15576363,15542842,9545312,9388250,9334314,9271374,9032301,9010223,8887666,8670842,8617811,8604338,8413226,8407951,8375385,8106390,8024585,7854423,7796532,7637780,7624133,7551568,7540136,2046671,1740119,1547771,1512232,10556093,15806162,15207639,15489334,15326221,15282327,15180964,15014501,14565952,12874181,12853125,12788374,12788062,12660819,12654640,12622724,12530967,12477932,12397177,12297045,12270917,12242287,12200418,12171911,12082086,12061776,11893590,11859076,11846562,11641790,11500490,11457859,11439182,11406578,11387340,11359793,11278942,11181183,11158291,11136726,11104785,11003651,10993896,10847592,10777532,10753652,10606656,10571058,10336466,10318869,10318842,9786846,9584171 1581423,1581424,1581425,1581426,1581427,1581428,1581473,1580754,1580749,1580753 6722 AB209128,AI085561,BC048211,BC052572,NM_003131,AL133375,AL355385,CH471081,CR594188,CR595609,J03161 EAX04161,EAX04162,BAD92365,AAH48211,AAH52572,NP_003122,CAI20207,CAI13785,AAA36647,P11831,Q59GI1 Hs.520140 GDB:453165 MCM1 protein-coding 1603357 SRFBP1 serum response factor binding protein 1 18230186,16647043,15492011,12477932,11329013 153443 NM_152546,AC010255,AC093521,CH471086,AK058015,AY611630,BC017102,BC031222,BG193119 NP_689759,EAW48899,EAW48900,BAB71631,AAU25829,AAH17102,AAH31222,Q8NEF9 Hs.107622 BUD22|FLJ25286|P49|Rlb1|STRAP|p49/STRAP protein-coding 1348930 SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 1580863 17081983,15761153,15489334,14702039,12736724,12477932,11672528,10718198,16189514 57522 NM_020762,AC020611,AC025576,AC079866,AC084357,CH471054,AB037725,AK023899,AK025819,BC029919,BC053903 NP_065813,EAW97122,EAW97123,BAA92542,BAB14714,AAH53903,Q7Z6B7 Hs.450763 ARHGAP13|FLJ22166|KIAA1304 protein-coding 1603684 SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 15324660,15046868,14702039,12736724,12477932,11672528,9455484 23380 NM_015326,NM_001042758,AL161736,CH471100,AB007925,AK000885,BC041635,BC063527,BC132872,BC132874 NP_056141,NP_001036223,CAH73674,CAH73675,CAH73676,EAW93550,BAA32301,AAI32873,AAI32875,O75044,Q5VZB3,Q5VZB4,Q5VZB5 Hs.497575 FNBP2|KIAA0456|srGAP3 protein-coding 1603455 SRGAP2P1 SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1 15252450,12477932 653464 NG_006429,AL358175,BC017972,BC036880,BC112927,DQ786311 AAI12928,Q5T4M8 Hs.523529,Hs.698027 MGC131678 pseudo 1345309 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 1580863 16730001,16344560,14702039,12736724,12477932,12447388,12368262,12195014,12168954,11672528,10574461,9455477 9901 NM_001033116,NM_001033117,NM_014850,AC026191,AC034186,AC037193,AC066583,AL137457,AL390174,CH471055,AB007871,AB032982,AF427144,AF464189,AK054831,AK094355,AK126331,AU120948,BC039300 NP_001028288,NP_001028289,NP_055665,EAW63950,EAW63951,BAA24841,BAA86470,AAN07095,AAN57784,AAH39300,O43295,Q53FJ2,Q8IXS7,Q9ULR4 Hs.654743 ARHGAP14|KIAA0411|MEGAP|SRGAP2|WRP protein-coding 1346396 SRGN serglycin This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. 11911826,16870619,15136585,11154222,18000860,15788411,15489334,14739229,14506241,12477932,12388539,11469527,11012225,10228010,9334256,8613703,7821789,7559813,4062880,3402609,3366780,3214420,2835370,2798108,2726751,2714783,2180935,1377686,16189514 5552 NM_002727,AL442635,CH471083,M33651,AI347627,BC015516,BC022313,BG057351,BG548665,CA308463,CB110512,CR603277,CR609954,CR610350,CR612769,CR616782,CR626092,CR626802,D28395,J03223,X12765,X17042 NP_002718,CAH71778,EAW54309,EAW54310,AAA60322,AAH15516,AAH22313,BAA05761,AAA60179,CAA31255,CAA34900,P10124,ABM82368,ABM85546 Hs.1908 GDB:120312 FLJ12930|MGC9289|PPG|PRG|PRG1 proteoglycan 1, secretory granule protein-coding 1603229 SRI sorcin 9668070,16130169,17699613,17541155,16934756,16931553,16320026,16189514,16169070,15862967,15808837,15489334,15231748,12804766,12754254,12477932,12411058,12408767,11714909,10748169,9570944,9268363,8561500,7873602,7835417,7592856,2901906,1286667 6717 AK129770,AL039198,AL117616,AL576812,BC011025,BI559592,BI597920,BM739144,BM793972,BU854353,CR604298,CR606029,CR610114,CR619016,CR625185,L12387,M32886,NM_198901,NM_003130,AC003991,AC005075,CH236949,CH471091 AAH11025,AAA92155,AAA60588,P30626,Q75MZ6,NP_944490,NP_003121,AAB96327,EAW76909,EAW76910,EAW76911 Hs.489040 GDB:118880 FLJ26259|SCN protein-coding 1346786 SRIL sorcin-like 9847074 6644 NG_003017,AC096725 GDB:120387 pseudo 1315254 SRL sarcalumenin 16344560,14702039,8681137,2762314 6345 NM_001098814,AC009171,AK056588,AL831973,AL832361,BX647476,DA563862,DB149163,F26773 NP_001092284,CAD89901,Q86TD4,AAI60181 Hs.10041 GDB:132918 protein-coding 732806 SRM spermidine synthase The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. 1300048,1580863 2069720,17585781,15489334,12477932,9020892,8343131,7774716,7629810,3481684,3248683,2730590,2344393 6723 NM_003132,AL109811,CH471130,M64231,BC000309,BC033106,CR590206,CR596521,CR603559,CR604523,CR605847,CR615659,CR617564,CR625228,M34338 NP_003123,EAW71675,EAW71676,AAA60574,AAH00309,AAH33106,AAA36633,P19623,Q5TER2 Hs.76244 GDB:127983 PAPT|SPDSY|SPS1|SRML1 protein-coding 1345666 SRML2 spermidine synthase-like 2 6724 GDB:128043 1345441 SRMP1 spermidine synthase pseudogene 1 170552 NG_001057,AL121777 GDB:11507945 dJ1057D4.1 pseudo 1353214 SRMP2 spermidine synthase pseudogene 2 326269 NG_002532,AL160236,AY165512 pseudo 1315310 SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 1580863 11780052,7935409 6725 NM_080823,AL121829,CH471077 NP_543013,CAC15526,EAW75261,Q9H3Y6,AAI48644,AAI53199 Hs.411061 GDB:434242 C20orf148|SRM|dJ697K14.1 protein-coding 1318313 SRP14 signal recognition particle 14kDa (homologous Alu RNA binding protein) 1580863 8196634,17353931,2557625,15635413,15489334,12477932,11790298,11089964,9016560,7542942,2153922,18455985 6727 NM_003134,AC025168,CH471125,AB061546,BC035495,BC051006,BC071716,BC100031,CR596116,CR610388,CR610442,CR610559,CR614758,CR620250,CV575824,U07857,X73459 NP_003125,EAW92390,EAW92391,BAB69067,AAH35495,AAH71716,AAI00032,AAA59066,CAA51838,P37108,Q96Q14 Hs.533732 GDB:128863 ALURBP|MGC14326 protein-coding 1603145 SRP14P1 signal recognition particle 14kDa (homologous Alu RNA binding protein) pseudogene 1 390284 NR_003273,AC005840 pseudo 1318204 SRP19 signal recognition particle 19kDa 1580863 1678319,17434535,15635413,15489334,12477932,12244299,12050674,11682607,11641499,10618370,9016569,2460823,1651174,16189514 6728 NM_003135,AC008575,CH471086,CS185567,BC000186,BC010947,BC017830,BC018669,CR592658,X12791 NP_003126,EAW48999,EAW49000,CAJ42748,AAH10947,AAH17830,CAA31280,P09132,Q05D77 Hs.707997 GDB:128864 protein-coding 1350478 SRP54 signal recognition particle 54kDa 15489334,14729963,12477932,12244299,11680843,10618370,10497032,9512475,9511762,9016569,8722571,16189514 6729 NM_003136,AL049776,X86373,BC000652,BC003389,CR613877,CR622716,U51920 NP_003127,CAA60132,AAH00652,AAH03389,AAC50994,P61011 Hs.167535 GDB:128865 protein-coding 1313366 SRP68 signal recognition particle 68kDa The signal recognition particle (SRP) is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. This gene encodes the 68kDa component of the SRP. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. 1580863 10618370,16672232,15489334,15252450,14702039,12477932,11281415,9399828,8388879 6730 NM_014230,AC040980,CH471099,CQ783601,AF195951,AK002002,AK027320,AK027322,AK074698,AK097962,AK098159,AK126258,AL512708,BC000760,BC013308,BC020238,DQ786315 NP_055045,EAW89358,EAW89359,EAW89360,EAW89361,EAW89362,EAW89363,CAF86767,AAF24308,BAB55040,BAB55041,BAC11145,AAH20238,Q96K97,Q96K98,Q9UHB9 Hs.514495 GDB:128866 protein-coding 1314481 SRP72 signal recognition particle 72kDa 1580863 9224693,16672232,15588816,15146197,14702039,12477932,10964510,10618370,9857079,9399828,9373149,8889548,8388879,8125298,2830980 6731 NM_006947,AC114766,CH471057,AF038851,AF069765,AF077019,AF086131,AK023480,AK225430,BC017057,BC032609,BC040134,BC046143,BC056901,BC065018,BC105583,BM985419,BX537991,CN270014,CR591976,CR594639,CR594794,CR599217,CR603949,CR607051,CR609738,CR622945,DB487204 NP_008878,EAX05495,EAX05496,EAX05497,EAX05498,AAQ13423,AAC97490,AAC27324,AAH17057,AAH32609,AAH40134,AAH46143,AAI05584,CAD97950,O15302,O76094,Q0D2M6,Q71V07,Q7Z3C0,Q86X80 Hs.237825 GDB:128867 protein-coding 1351238 SRP72P1 signal recognition particle 72kDa pseudogene 1 414747 1353021 SRP72P2 signal recognition particle 72kDa pseudogene 2 414748 1348001 SRP9 signal recognition particle 9kDa 1580863 7730321,15635413,15489334,12477932,11089964,9110174,8619474,7518078,2153922,12775420 6726 BC022415,BC064351,BC066957,BC067845,BC106005,CR590096,CR595691,CR596336,CR596418,CR602546,CR602688,CR610100,CR618157,CR619100,CR619235,CR620348,CR622995,EF488978,U20998,NM_003133,AC099066,CH471098,AF070649,AK289595,AL050363,BC008443,BC015094,BC017414,BC021995 AAH21995,AAH22415,AAH64351,AAH66957,AAH67845,AAI06006,ABP02070,AAA70170,P49458,Q659G3,Q6NVX0,Q6P2S0,Q8WTW0,Q8WVW9,NP_003124,EAW69750,EAW69751,EAW69752,EAW69753,BAF82284,CAH56414,AAH08443,AAH15094,AAH17414 Hs.511425,Hs.706900 GDB:128862 ALURBP|MGC110981 protein-coding 1345790 SRP9L1 signal recognition particle 9-like 1 414307 1317950 SRPK1 SFRS protein kinase 1 This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. A second alternatively spliced transcript variant for this gene has been described, but its full length nature has not been determined. 1580863 11509566,10196197,17353931,8208298,15034300,18342604,18155240,17517895,17360743,17332336,17223538,17081983,16223727,16209947,16122776,15635413,15489334,15324660,14701833,14574404,14559993,14555757,12565829,12477932,12417631,12134018,10390541,10340541,10198174,10049757,9472028,8798720 6732 NM_003137,CH471081,Z99128,AJ318054,AK292277,BC038292,BG772464,BX648663,BX648697,CR592560,CR593143 NP_003128,EAX03853,EAX03854,EAX03855,EAX03856,EAX03857,EAX03858,EAX03859,EAX03860,CAI20543,CAI20544,CAI20545,CAC39299,BAF84966,AAH38292,Q5R363,Q96SB4 Hs.443861 GDB:9835146 SFRSK1 protein-coding 1312944 SRPK2 SFRS protein kinase 2 9472028,17353931,18425142,16189514,16122776,15592455,15489334,15144186,14702039,12853948,12477932,12134018,10196197,9446799,9171351,8208298 6733 NM_182692,NM_182691,AC004884,AC005070,AC073138,CH236947,CH471070,AK092977,AK093420,AW086157,AY354201,BC035214,BC068547,BI918658,BM805927,CR617569,CR624570,U88666 NP_872634,NP_872633,AAS00352,AAC29140,AAC29141,EAW83359,EAW83360,EAW83361,AAQ63886,AAH35214,AAH68547,AAC05299,P78362,Q75MW9,ABM82263,ABM85445 Hs.285197 GDB:9835145 FLJ36101|SFRSK2 protein-coding 1349288 SRPK3 SFRS protein kinase 3 1580863 16140986,12477932,11063724,9286695,14559993 26576 NM_014370,CH471172,AF027406,BC092416,BC117124,DQ099381,U82808 NP_055185,EAW72812,EAW72813,EAW72814,AAD01848,AAH92416,AAI17125,AAZ13757,AAD00539,Q4F970,Q562F5,Q9UPE1 Hs.104865 GDB:10795854 MGC102944|MSSK1|STK23 serine/threonine kinase 23 protein-coding 1322997 SRPR signal recognition particle receptor ('docking protein') 1580863 2827661,15592455,15489334,12477932,3340536,3021779,1312991 6734 NM_003139,AP001318,CH471065,AK130382,BC001162,BC008077,BC009110,BC013583,CR457025,X06272 NP_003130,EAW67684,EAW67685,EAW67686,AAH01162,AAH09110,AAH13583,CAG33306,CAA29608,P08240,Q6IAX9,Q96HU2,ABM82402,ABM85590 Hs.591936 GDB:119603 DP|MGC17355|MGC3650|MGC9571|SRP-alpha|Sralpha protein-coding 1312294 SRPRB signal recognition particle receptor, B subunit The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. 1580863 17353931,17080297,16303743,15489334,14702039,12918107,12477932,10459008,7844142,14743216 58477 NM_021203,AC080128,CH471052,AF086914,AF141882,AK027307,AK027525,AK075531,BC063001,BC065299,CR619408,CR621456,CR625077 NP_067026,EAW79160,EAW79161,EAW79162,AAP97144,AAD34888,BAB55176,BAC11675,AAH63001,AAH65299,Q549N5,Q6P595,Q9Y5M8 Hs.584950 APMCF1 protein-coding 1345951 SRPSMCR signal recognition particle, Smith Magenis syndrome chromosome region 10615134 27167 GDB:10795944 733583 SRPX sushi-repeat-containing protein, X-linked 1580863 12493773,8634708,15772651,15489334,15021917,12874760,12716466,12477932,12152160,9162095,8634709 8406 NM_006307,AL121578,AL133494,AL606748,AL627246,CH471141,S82496,AK125542,AK289430,BC020684,CR591734,CR592953,CR597663,CR604296,CR606094,CR609268,CR613384,CR622289,CR623087,CR625902,U61374,U78093 NP_006298,EAW59445,EAW59446,EAW59447,AAB37378,AAB37379,BAF82119,AAH20684,AAB40715,AAB36685,P78539 Hs.15154 GDB:3811398 DRS|ETX1|SRPX1 sushi-repeat-containing protein protein-coding 1350450 SRPX2 sushi-repeat-containing protein, X-linked 2 737633 17942002,16497722,16344560,16303743,15772651,15489334,15342556,12477932,11375929,9864177 737633 27286 NM_014467,AL035608,AL391688,CH471115,AF060567,AF393649,AK075462,AU104738,BC020733,BP279501,BU625416,BX339682,DA707631 NP_055282,CAI41009,EAX02812,AAC15765,AAM73693,AAH20733,O60687 Hs.306339 RESDX|SRPUL protein-coding 1352406 SRR serine racemase 1580863 11054547,17880399,17697119,17413456,17413455,17067558,16837850,16446740,15953485,15536068,15489334,15219883,15193426,14702039,12621583,12560076,12477932,9373149,8125298,12021263,10557334 63826 CR457300,NM_021947,AL450226,CH471108,AF169974,AK023169,AK223120,AL834378,AY034081,AY743705,AY743706,AY743707,AY743708,BC057234,BC074728 CAG33581,Q3ZK31,Q53G11,Q6IA55,Q8N3F4,Q9GZT4,NP_068766,EAW90553,EAW90554,EAW90555,AAG27081,BAB14442,BAD96840,CAD39041,AAK58495,AAW66460,AAW66461,AAW66462,AAW66463,AAH74728 Hs.461954 GDB:11504581 ILV1|ISO1 protein-coding 1606069 SRRD SRR1 domain containing 16344560,15489334,12477932,10591208,8889548,8806657 402055 NM_001013694,CH471095,Z99714,BC066962,BQ189353,CR616197,CR616290,DA325985,U63541 NP_001013716,EAW59721,CAB62929,AAH66962,AAF77225,Q9NNX4,Q9UH36 Hs.709914 HC/HCC|SRR1L protein-coding 1322619 SRRM1 serine/arginine repetitive matrix 1 1580863 9531537,17353931,12226669,17081983,16964243,16710414,16354706,16159877,15489334,15345747,15324660,15302935,15144186,15024032,12944400,12624182,12600940,12581738,12477932,12093754,11991638,11991360,11739730,11546874,11118221,10809668,10908574,10668804,10339552,9933612,9472028 10250 NM_005839,AL445648,AL445686,CH471134,AF048977,AF419855,BC011019,BC017315,BC036187,BG720378,CX782666 NP_005830,CAI14682,CAI14683,EAW95138,EAW95139,EAW95140,AAC09321,AAP97290,AAH36187,Q5VVN3,Q8IYB3 Hs.18192 GDB:9955813 160-KD|MGC39488|POP101|SRM160 protein-coding 1353318 SRRM1L serine/arginine repetitive matrix 1-like 401475 XM_932812,AC020688 XP_937905 protein-coding 1320904 SRRM2 serine/arginine repetitive matrix 2 17353931,17081983,16964243,16565220,16083285,15616553,15489334,15345747,15324660,15302935,15144186,14578391,12477932,11991638,11004489,10908574,10668804,9531537,9205841,15778465 23524 AB002322,AB015644,AB016087,AB016088,AB016089,AB016090,AB016091,AB016092,AF201422,AI083775,AK025579,AK025903,BC007752,BC009062,BC020639,BC028054,BC032416,BC041155,BC046104,BC070050,BC107087,BX647088,CR600414,CR621486,CR623330,NM_016333,AC004493,AC092117,CH471112 EAW85480,EAW85478,EAW85481,EAW85479,EAW85482,EAW85483,BAA20782,BAA34957,BAA83713,BAA83714,BAA83715,BAA83716,BAA83717,BAA83718,AAF21439,AAH07752,AAH09062,AAH20639,AAH32416,AAH41155,AAH46104,AAH70050,AAI07088,A0AUK8,O60382,Q05BI2,Q05CV9,Q9UQ35,Q9UQ39,NP_057417,AAC08453,EAW85477 Hs.433343 GDB:9785585 300-KD|CWF21|DKFZp686O15166|FLJ21926|FLJ22250|KIAA0324|MGC40295|SRL300|SRm300 protein-coding 1343475 SRS Snyder-Robinson X-linked mental retardation syndrome 6735 GDB:136337 1316466 SRXN1 sulfiredoxin 1 homolog (S. cerevisiae) 15448164,17176052,16818657,16565085,16381901,15952770,15590625,15489336,15489334,12477932,11780052,11230166,11181995,11076863 140809 NM_080725,AL121758,CH471133,AF075053,AK098418,AK125343,AK127435,AL833944,AY427953,BC017001,BC032604,BC047707 NP_542763,CAI23005,BAC05302,CAD38799,AAR87853,AAH17001,AAH32604,AAH47707,Q0JRZ5,Q9BYN0,CAL38018,CAL38719 Hs.355284,Hs.516830 GDB:11505122 C20orf139|Npn3|SRX1|YKL086W|dJ850E9.2 chromosome 20 open reading frame 139 protein-coding 737205 SRY sex determining region Y This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. 1599179,1598780,1580863 15527767,1695712,8265659,18184266,1425584,18056774,17063144,16996051,16904257,16762365,16756388,16510537,16504207,16414182,16411204,15746192,15579790,15579656,15489334,15469996,15297880,15266301,15170344,15155818,14660691,12970737,12919143,12871148,12815422,12764225,12575752,12483463,12477932,12215841,11912443,11869379,11818535,11641389,11585838,11563911,11278460,11062480,10852465,10843173,10732804,10721678,10670762,10235389,9678356,9525897,9521592,9450909,9443877,9346931,9150734,9143916,12107262,11990798,9054412,8447323,8434602,8353496,8257986,8244390,8159753,8122913,8105086,8054981,8019555,7985018,7876301,7776083,7774012,7718558,7717397,7633446,7557997,2909893,2247151,2247149,1956279,1639410,1619028,1570829,1483689,1415266,1339396 1599179,1598780 6736 AC006040,AJ421270,AY320232,AY330304,AY330305,AY573238,AY601852,AY601853,AY601854,AY601855,AY601856,AY601857,AY601858,AY601859,AY601860,AY608625,AY608626,AY998484,AY998485,AY998486,AY998487,NM_003140,AY998488,AY998489,AY998490,AY998491,DQ086140,DQ086141,L08063,L10102,X53772,X96421,BC074923,BC074924,L10101,S53156,S56543 NP_003131,CAD13147,AAP88266,AAP88269,AAP88270,AAS79428,AAT39011,AAT39012,AAT39013,AAT39014,AAT39015,AAT39016,AAT39018,AAT39019,AAT37461,AAT37462,AAY15119,AAY15120,AAY15121,AAY15122,AAX93511,AAX93512,AAX93513,AAY15123,AAY88211,AAY88212,AAT39017,AAA16878,AAA60591,CAA37790,CAA65281,AAH74923,AAH74924,AAA60590,AAB25008,AAB25716,Q05066,Q4JI39,Q52MX7,Q52MX8,Q52MX9,Q52MY0,Q52MY1,Q52MY2,Q52MY3,Q6J0W4,Q6J0W5,Q6J4I5,Q6J4J1,Q6PWT1,Q7Z5C4,Q7Z5C5,Q7Z5C8,Q8WZ47,ABZ92392 Hs.1992 GDB:125556 TDF|TDY sex determining region on y protein-coding 1606967 SRrp35 serine-arginine repressor protein (35 kDa) 11684676,15489334,15342556,14702039,12477932 135295 NM_080743,AL353135,CH471051,AA889416,AF449428,AK027365,AK090803,AK123215,BC021715,BP244338 NP_542781,CAI16247,EAW48561,EAW48562,AAL57515,AAH21715,Q5T7K0,Q8WXF0,ABM82996,ABM86189 Hs.254414 FLJ14459|FLJ33484|FLJ41221|RP11-63L7.3 protein-coding 1323627 SS18 synovial sarcoma translocation, chromosome 18 1599184,1580863 10072425,18234968,17721327,17667940,17101797,17018603,16484776,16462762,16247461,16227627,16152617,15919756,15489334,14603256,12878157,12477932,12037676,11734557,11591653,11423977,11368913,11308259,11030627,9285794,8152806,7951320,7495284 1599184 6760 BC096223,BC096224,CR542088,CR542103,X79201,NM_005637,NM_001007559,AC091021,CH471088,AB300354,AB300355,AB300356,AB300357,AF244972,AF257501,AF343880,AK289510,AU279615,AW081610,BC096221,BC096222 AAH96222,AAH96223,AAH96224,CAG46885,CAG46900,CAA55792,Q15532,Q4VAX0,Q4VAX2,Q6FGL9,Q8IZG5,Q8IZG6,Q8IZG7,Q8IZG8,Q8IZG9,Q8IZH0,Q8IZH1,Q8TDQ9,Q9Y444,NP_005628,NP_001007560,EAX01209,EAX01210,EAX01211,EAX01212,EAX01213,BAF56181,BAF56182,BAF56183,BAF56184,AAM00188,AAG31035,AAK21314,BAF82199,AAH96221 Hs.404263 GDB:434322 MGC116875|SSXT|SYT|SYT-SSX1|SYT-SSX2 protein-coding 1345361 SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L1 gene is homologous to SS18.[supplied by OMIM] 1580863 14716005,16484776,16189514,15866867,15489334,12696068,12477932,11780052,11435705,9734811 26039 NM_198935,AL078633,CH471077,AB014593,AK125656,AK291485,AY203931,BC034494,BC068993,BX640848 NP_945173,CAC29252,CAI18836,EAW75389,EAW75390,EAW75391,EAW75392,EAW75393,EAW75394,EAW75395,EAW75396,BAA31668,BAF84174,AAP34454,AAH34494,AAH68993,CAE45918,O75177,Q6MZV9,Q6NTH3,Q6XYD9,Q9BR54,ABM81834,ABW03300 Hs.154429 GDB:11507947 CREST|KIAA0693|LP2261|MGC26711|MGC78386 protein-coding 1347853 SS18L2 synovial sarcoma translocation gene on chromosome 18-like 2 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM] 15489334,12477932,11435705 51188 NM_016305,AC092047,CH471055,AF201950,AI027415,BC017804,BC020444,CR600040,CR609606,DR158587 NP_057389,EAW64657,EAW64658,AAF17242,AAH17804,Q9UHA2,ABM82891,ABW03464 Hs.534454 GDB:11504583 KIAA-iso protein-coding 1344848 SSAV1 simian sarcoma-associated virus 1/gibbon ape leukemia virus-related endogenous retroviral element 1 10072578,9226372 6739 Y10937 GDB:120388 1346358 SSAV1L simian sarcoma-associated virus 1-like/gibbon ape leukemia virus-related endogenous retroviral element 1-like 1602831 6740 GDB:134228 1348902 SSB Sjogren syndrome antigen B (autoantigen La) La is involved in diverse aspects of RNA metabolism, including binding and protecting 3-prime UUU(OH) elements of newly RNA polymerase III (see MIM 606007)-transcribed RNA, processing 5-prime and 3-prime ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. La protein was originally defined by its reactivity with autoantibodies from patients with Sjogren syndrome (MIM 270150) and systemic lupus erythematosus (SLE; MIM 152700) (Teplova et al., 2006 [PubMed 16387655]).[supplied by OMIM] 1580863 12584332,12540850,12477932,12458796,12457960,12384597,12121976,12102760,12096904,12049746,11580243,10715123,9415639,9173875,9054510,7964483,7933082,3856888,2470590,2468131,2464497,2452201,1692037,12963047,15574333,10964780,17875783,17719568,17552056,17346312,17308035,17081983,16906225,16849479,16682524,16467037,16387655,16344466,16320341,16107699,15928345,15823607,15685555,15572691,15489334,15485924,15371415,15302879,15213463,15084396,15004549,14636586,14617813,9154801,17353931,10983981,3192525,18282467,17945310,12033793 6741 NM_003142,AC009967,CH471058,BC001289,BC020818,BT009862,CR598451,CR599289,CR606482,CR608623,CR608625,CR609037,CR613978,CR617465,CR618345,CR620968,CR625880,DQ185046,J04205,M20328,M35261,M35262,M35263,X13697,X14684,X69804 NP_003133,AAY14868,EAX11256,EAX11257,EAX11258,EAX11259,AAH01289,AAH20818,AAP88864,ABD14426,AAA51885,AAA36577,AAA36652,AAA36654,AAA36653,CAA31985,CAA32815,P05455,Q14730,Q15367,Q2F832,Q53XJ4,Q9UMH5,Q9UMH6,Q9UMH7,ABM85385 Hs.632535 GDB:125359 LARP3|La protein-coding 736464 SSBP1 single-stranded DNA binding protein 1 SSBP is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]).[supplied by OMIM] 1580863 15489334,12853948,12690205,12479417,12477932,12464025,12381786,11964388,11556757,10827171,9452467,9033597,8482537,7789991,15710247 6742 NM_003143,AC004918,AC004979,CH236950,CH471070,AF277319,BC000895,BC008402,BC093054,M94556 NP_003134,AAS02037,EAL24018,EAW83978,EAW83979,EAW83980,EAW83981,AAK69112,AAH00895,AAH08402,AAH93054,AAA36332,Q04837,Q567R6,Q75MV9,Q96QL6,ABM84297,ABM87692 Hs.490394 GDB:386190 SSBP protein-coding 1344325 SSBP2 single-stranded DNA binding protein 2 1580863 12079286,11256614,17311003,16189514,15782145,15489334,14702039,12477932,11230166,11042152,10931946 23635 AC010623,AC016562,AC026419,AC093250,AY026275,CH471084,AA013030,AF077048,AF161465,AK074537,AL080076,NM_012446,BC017020,BI517313,BX397789,BX413405,CR591669,CR592248,CR600178,CR600282,CR601556,CR605486,CR613597,CR936787 NP_036578,AAK15803,EAW95877,EAW95878,EAW95879,EAW95880,AAD27781,AAF29080,BAC11046,CAB45699,AAH17020,P81877,Q9P038,ABM82546,ABM85738,ABW03393 Hs.699214 GDB:11503249 DKFZp686F03273|HSPC116 protein-coding 731988 SSBP3 single stranded DNA binding protein 3 16325762,15489334,14702039,12477932,12381786,12079286,10524251,7566098 23648 NM_018070,NM_001009955,NM_145716,AL035415,AL161644,AL354778,AY026310,CH471059,AF086085,AF500116,AI565975,AK001217,AK093975,AK289474,AL519196,BC003605,BC004335,BC066365,BQ051652,CR607705 NP_060540,NP_001009955,NP_663768,CAI23558,CAI23559,CAI23560,CAI23561,CAI23562,CAI23563,AAK21984,AAK21985,EAX06688,EAX06689,EAX06690,EAX06691,EAX06692,EAX06693,AAM22101,BAA91561,BAF82163,AAH03605,AAH04335,AAH66365,Q5T6S6,Q5T865,Q5TG50,Q5TG51,Q9BT57,Q9BWW4,Q9NW25 Hs.658676 GDB:11508791 CSDP|FLJ10355|SSDP|SSDP1 sequence-specific single-stranded-dna-binding protein protein-coding 1350792 SSBP4 single stranded DNA binding protein 4 1580863 16189514,15489334,15345747,12477932,12079286 170463 NM_032627,NM_001009998,AC008397,AY026276,AY026292,CH471106,AA970604,AK098429,AL519004,AW592459,BC000274,BQ068310,BX400247,CA440011,CR608876 NP_116016,NP_001009998,AAK20020,EAW84697,EAW84698,EAW84699,EAW84700,EAW84701,EAW84702,AAH00274,Q9BWG4,Q9BWW5 Hs.405873,Hs.515259 GDB:11508792 MGC3181 protein-coding 1349474 SSFA1 sperm specific antigen 1 9114055 6743 GDB:9120565 1321861 SSFA2 sperm specific antigen 2 1580863 14673706,12477932,11572484,9740325,1555770,17934691,17081983,15815621,15489334,15302935,14702039 6744 NM_006751,AC009962,CH471058,AB067514,AB116937,AK091197,AK097375,AK098455,AK127890,AK291745,AL833431,BC012947,BC028706,BC037334,BC052581,BC064499,BX647257,BX647967,BX648182,BX648888,CR749488,M61199 NP_006742,AAY14913,EAX10980,EAX10981,BAB67820,BAC81767,BAC03607,BAC05027,BAC05308,BAF84434,AAH12947,AAH28706,AAH52581,AAH64499,CAH18314,AAB00773,P28290 Hs.591602 GDB:9120566 CS-1|CS1|DKFZp313O1039|DKFZp779G0129|FLJ45996|KIAA1927|KRAP|SPAG13 protein-coding 1345208 SSH1 slingshot homolog 1 (Drosophila) The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM] 1580863 11832213,17350576,14645219,18096821,17848544,16513117,16230460,15671020,15660133,15489334,15459975,15302935,15159416,15056216,14702039,14531860,12807904,12684437,12477932,10718198 54434 NM_018984,AC087893,CH471054,AB037719,AB072355,AB072356,AB072357,AK095421,BC062341,CR623842 NP_061857,EAW97830,EAW97831,EAW97832,EAW97833,BAA92536,BAB84114,BAB84115,BAB84116,BAC04546,AAH62341,Q8WYL5 Hs.199763 FLJ38102|KIAA1298|SSH-1 protein-coding 1319710 SSH2 slingshot homolog 2 (Drosophila) The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM] 11832213,17848544,17081983,15489334,15345747,14702039,14531860,14527359,12477932,11214970,16189514,15660133 85464 AB051512,AB072358,AB072359,AB099290,AF484838,AK091432,AK094204,AK094429,BC008941,BC011636,BC068223,NM_033389,AC023389,AC087510,AC104564,AC104982,CH471159 EAW51212,EAW51213,BAB21816,BAB84117,BAB84118,BAC97813,AAL92027,AAH08941,AAH11636,AAH68223,Q76I76,AAI66670,NP_203747,EAW51209,EAW51210,EAW51211 Hs.654754 KIAA1725|MGC78588|SSH-2 protein-coding 1318592 SSH3 slingshot homolog 3 (Drosophila) The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM] 737633,1580863 17848544,16964243,15660133,15489334,14702039,14531860,12477932,11832213,16189514 737633 54961 AP001885,CH471076,AB072360,AB099291,AF085851,AK000522,AK001790,AK074432,AK094226,NM_017857,BC004176,BC004210,BC007709 NP_060327,EAW74587,EAW74588,EAW74589,EAW74590,EAW74591,EAW74592,EAW74593,EAW74594,EAW74595,EAW74596,BAB84119,BAC97814,BAA91228,BAA91913,BAB85080,BAC04314,AAH07709,Q8TE77 Hs.29173 FLJ10928|FLJ20515|SSH-3 protein-coding 1321056 SSNA1 Sjogren syndrome nuclear autoantigen 1 1580863 9430706,15489334,15269182,14654843,12477932,11591653 8636 CR542238,CR620508,Z96932,NM_003731,AL929554,CH471090,BC000864,BC004118,BC015827,BT006766 CAG47034,CAB09660,O43805,Q5VSG0,NP_003722,CAH72882,EAW88362,EAW88363,AAH00864,AAP35412 Hs.530314 GDB:9956080 N14|NA-14|NA14 protein-coding 1347504 SSPN sarcospan (Kras oncogene-associated gene) SSPN gene is expressed in a variety of tissues with highest levels in muscle, where alternative splice variants have been observed. In certain tumors KRAS2, SSPN, and ITPR2 are coamplified. The function of this gene is unknown. 1580863 9395445,11256614,18028944,17311848,16823602,16381901,15489336,15489334,15375499,14702039,12477932,11956653,11807778,11470766,11230166,11180757,11076863,10942431,10767327,10651799,8661122,8020969 8082 NM_005086,AC022509,CH471094,AF016028,AK092925,AL136756,BC062299,EU433933,X89105 NP_005077,EAW96532,AAC61660,CAB66690,AAH62299,ACA09756,CAA61479,Q0JV68,Q14714,CAL37553,CAL37592 Hs.709230 GDB:9954494 DAGA5|KRAG|SPN1|SPN2 protein-coding 1604386 SSPO SCO-spondin homolog (Bos taurus) 14702039,14692680,12909363,12477932,11008217,9628581,8743952,12421765,17126404,15790807,15053980 23145 NM_198455,AC004877,AB111888,AK093431,AK123170,AK124542,AK127639,AY927596,AY927597,AY927598,BN000852 NP_940857,BAC98376,BAC04161,BAC85547,BAC87067,CAJ43920,A2VEC9,O60290,Q6ZS87,Q6ZUU1,Q6ZWF6,Q76B61,Q8N9X4 Hs.632022 FLJ36112|FLJ45737|KIAA2036|SCO-spondin protein-coding 1322158 SSR1 signal sequence receptor, alpha (translocon-associated protein alpha) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. 1580863 8050590,10437777,17081983,16303743,16169070,15489334,14702039,14574404,12754519,12477932,10471800,9373149,8707840,8125298,7916687,1964414,1557127 6745 CA424805,CR456961,CR591675,CR599599,CR610481,CR936719,DC384883,Z12830,BT007387,NM_003144,AL139095,CH471087,AF156965,AJ420492,AK024294,AK025753,AK026687,AK075562,AK222762,AK222809,AK291550,AK312653,BC007710 AAP36051,CAG33242,CAA78290,P43307,ABM83677,ABW03544,NP_003135,CAI16444,EAW55202,EAW55203,EAW55204,AAD48778,BAC11701,BAD96482,BAD96529,BAF84239,BAG35536,AAH07710 Hs.699196 GDB:438333 DKFZp781N23103|FLJ14232|FLJ22100|FLJ23034|FLJ78242|FLJ93042|TRAPA protein-coding 1318091 SSR2 signal sequence receptor, beta (translocon-associated protein beta) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. 1580863 7789174,16710414,15489334,15342556,14702039,12754519,12477932,10471800,9373149,8286409,8125298,7916687,3021779 6746 NM_003145,AL355388,CH471121,AK092473,AK222600,AY251536,BC000341,BP196192,BX649192,CR456973,CR590187,CR590435,CR590829,CR590937,CR592411,CR600571,CR603682,CR609717,CR612070,CR613556,CR614947,CR615739,CR616435,CR617169,CR617337,CR620188,CR623702,D37991,X74104 NP_003136,CAH72631,CAH72632,EAW53010,EAW53011,BAD96320,AAP20059,AAH00341,CAE46211,CAG33254,BAA07206,CAA52207,P43308,Q6MZE4 Hs.74564 GDB:438334 DKFZp686F19123|HSD25|TLAP|TRAPB protein-coding 1349375 SSR3 signal sequence receptor, gamma (translocon-associated protein gamma) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. The protein encoded by this gene is the gamma subunit and is predicted to span the membrane four times. 1580863 14667819,17353931,7916687,17081983,15489334,12477932,10471800 6747 NM_007107,AC092927,CH471052,AF087907,AF110647,BC017203,BT006669,CR597465,CR624148 NP_009038,EAW78730,EAW78731,AAP97205,AAD48587,AAH17203,AAP35315,Q9UNL2,ABM83498,ABM86714 Hs.518346 GDB:9476155 TRAPG protein-coding 736749 SSR4 signal sequence receptor, delta (translocon-associated protein delta) SSR4, also called TRAPD, is assumed to be involved in protein secretion. It is located in the Xq28 region, arranged in a compact head-to-head manner with the IDH3G gene. These two genes are driven by a bidirectional promoter located between them, and encode proteins involved in unrelated biochemical pathways located in different compartments of the cell. The nontranscribed intergenic region represents only 133 bp and is embedded in a CpG island. The CpG island functions as a bidirectional promoter to initiate the transcription of both functionally unrelated genes with distinct expression patterns. SSR4 consists of six exons and is approximately 70 kb telomeric to the ALD gene. Although alternative splicing of exon 5 has not been detected in human SSR4, transcript variants missing the region homologous to human exon 5 have been detected in both Xenopus laevis and Mus musculus. 1302383,1300048,1580863 17353931,7492314,9286695,16381901,15489336,15489334,15057039,14702039,14684739,12477932,11076863,10471800,7916687 1302383 6748 NM_006280,CH471172,CQ859728,U52111,Z68129,AK057117,AK094395,AK290493,BC003371,BC015362,BC032351,BT007192,CR614376,CR616204,X90583,Z69043 NP_006271,EAW72807,EAW72808,EAW72809,EAW72810,EAW72811,CAH25914,CAA92215,BAF83182,AAH03371,AAP35856,CAA62211,CAA93157,P51571,Q0JSX1,CAL37918,CAL38393,ABM87812,ABW03671 Hs.409223 GDB:9476262 TRAPD signal sequence receptor 4 protein-coding 734366 SSRP1 structure specific recognition protein 1 The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. 1580863 1372440,15231747,12676794,17672918,17209051,17081983,16730941,16713563,16498457,15659405,15635413,15561718,15489334,15302935,15009096,14660563,14559993,12934006,12477932,12393879,12374749,12101123,11824977,11344167,11239457,10912001,10421373,10336466,10199952,9836642,9566881,9489704,7594592,2530581,16189514,15616580,15592455 6749 NM_003146,AP000781,CH471076,AB209132,BC005116,BC091486,CR601255,CR610078,M86737 NP_003137,EAW73734,EAW73735,AAH05116,AAH91486,AAA58660,Q08945,Q59GH7,ABM84585,ABM86758,BAD92369 Hs.523680 GDB:344122 FACT|FACT80|T160 protein-coding 1323499 SSSCA1 Sjogren syndrome/scleroderma autoantigen 1 This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. 1580863 9486406,17353931,16189514,15489334,12477932,11591653 10534 AP001362,CH471076,AB001740,BC014791,NM_006396 NP_006387,EAW74406,EAW74407,EAW74408,BAA25263,AAH14791,O60232,ABM82708,ABM85892 Hs.654840 GDB:9959016 p27 protein-coding 734231 SST somatostatin The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. 1641809 9886848,8405411,6145156,8961277,9437026,17987251,17704349,17327350,17130427,16952549,16804989,16764985,16606630,16456666,16284732,16214911,16211223,16043736,15655830,15489334,15472172,15358539,15286801,15266779,14559725,12952361,12902325,12684217,12477932,12174892,11920268,11860030,11823046,11814357,11753230,8612489,8100352,7908405,6196780,6142531,6126875,4682131,1346068,1337145,9878821 1641809 6750 NM_001048,AC072022,CH471052,J00306,BC032625,BM353331,R54287 NP_001039,EAW78145,EAW78146,AAA60566,AAH32625,P61278 Hs.12409 GDB:119604 SMST 1643508 BW262_H protein-coding 737191 SSTR1 somatostatin receptor 1 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biological effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. The encoded protein is a member of the superfamily of somatostatin receptors having seven transmembrane segments, and is expressed in highest levels in jejunum and stomach. 1580863,1641809 1346068,8405411,9886848,18347174,17848636,17533578,16214911,15489334,15247250,12788890,12477932,12474541,12414882,12376335,12359227,12021920,11753241,11527930,11344221,10734105,10713101,9892225,9279525,9205124,9125122,8622562,8449518,7968260 1641809 6751 NM_001049,AL450109,AY322536,CH471078,M81829,AK290868,BC035618,BX248780 NP_001040,AAP84349,EAW65836,AAA58247,BAF83557,AAH35618,CAD66587,P30872,Q86SW9,ABM84254,ABM87643 Hs.248160 GDB:134185 SRIF-2 protein-coding 1346941 SSTR2 somatostatin receptor 2 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR2 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in cerebrum and kidney. 1580863,1358588 17678886,17603546,17546456,16996150,16954443,16917505,16645635,16606630,16601140,16254490,16214911,16115892,15914528,15754023,15489334,15257106,15231824,15205362,15153427,15118275,14760765,14702039,14695784,14671213,14602773,14576502,14572771,12684217,12675130,12490654,12477932,12474541,12414882,12210479,12030911,12021920,11920268,11839658,11823046,11753241,11527930,11472428,11344221,11264236,11087996,10619399,10373412,9892225,9344495,9305905,9279525,9125122,8449518,8386508,7968260,7673428,16189514,10551867,7914078,1346068,9892014,18292657,18234910,17848636,17706924 1358588 6752 AB065911,AC097641,AF184174,AY236542,CH471099,L34689,M81830,AK093950,AK290745,BC000256,BC009522,BC019610,BC095495,BT019926,CR593522,NM_001050 NP_001041,BAC06126,AAF42809,AAF42810,AAO92064,EAW89111,EAW89112,AAC98545,AAA58248,BAF83434,AAH00256,AAH09522,AAH19610,AAH95495,AAV38729,P30874,ABM82206 Hs.514451 GDB:134186 protein-coding 1343520 SSTR3 somatostatin receptor 3 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biological effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR3 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in brain and pancreatic islets. SSTR3 is functionally coupled to adenylyl cyclase. 1580863 8405411,1337145,8961277,17683502,17679363,16214911,15489334,15461802,15197339,12477932,12474541,12414882,12376335,12021920,11753241,11472428,11344221,10591208,9295322,9205124,9177396,9125122,8449518,8183236,8097479,1346068 6753 NM_001051,AY277678,AY322541,CH471095,M96738,Z82188,AK291165,BC042068,BC096829,BF513812,BF515539,CR456585 NP_001042,AAP32288,AAP84354,EAW60148,AAA60592,CAB45263,BAF83854,AAH42068,AAH96829,CAG30471,P32745,Q86YF2,CAK54616,CAK54915 Hs.225995 GDB:134187 protein-coding 735550 SSTR4 somatostatin receptor 4 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. 1580863 9892014,8405411,8100352,16214911,15489334,12477932,12414882,12210479,12021920,11780052,11753241,11472428,11344221,10768564,10433861,9279525,9205124,9125122,8512564,8483934,8449518,8373420,8244401,1346068 6754 NM_001052,AL049651,AY548169,CH471133,D16826,L07833,L14856,BC069063,BC117270,BC117272 NP_001043,CAB51953,AAS55648,EAX10168,EAX10169,EAX10170,BAA04106,AAA60565,AAA36623,AAH69063,AAI17271,AAI17273,P31391,Q17RM3 Hs.673846 GDB:202662 protein-coding 736501 SSTR5 somatostatin receptor 5 Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biological effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR5 is a member of the superfamily of receptors having seven transmembrane segments. 1580863,1358589 9892014,7908405,17159301,16954443,16690617,16216913,16214911,16012170,15914528,15616553,15247250,15118275,14602773,12898583,12414882,12192619,12072395,12021920,11753241,11502816,11157797,10753124,10713101,9892225,9694905,9279525,9205124,9177396,9125122,8449518,8373420,8078491,7607700,6145156,1346068 1358589 6755 AAB31829 NM_001053,AC009041,AE006466,AY081193,CH471112,D16827,L14865 P35346,Q541E0,AAI41554,AAI46577,NP_001044,AAK61266,AAL88744,EAW85687,BAA04107,AAA20828,AAB31829 Hs.449840 GDB:138452 protein-coding 1605688 SSU72 SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 15659578,15125841,14702039,12477932,11483580,11042152 29101 NM_014188,AL645728,CH471183,AF161530,AF277178,AF305818,AJ276409,AK001809,AK023110,AK127149,BC008070,BC018909,CF594026,CR591269 NP_054907,CAI22945,CAI22946,CAI22947,CAI22948,EAW56182,EAW56183,AAF29145,AAK07538,AAK55521,CAC81713,BAA91921,BAB14410,BAC86853,AAH08070,Q5SV18,Q6ZSU3,Q96JR5,Q9NP77,ABM83913,ABM87235 Hs.30026,Hs.657061 FLJ13048|HSPC182|PNAS-120 protein-coding 1354257 SSX1 synovial sarcoma, X breakpoint 1 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are probably responsible for transforming activity. 1580863 10072425,18267106,16247461,16152617,15772651,15735574,15489334,12696068,12477932,12216073,12037676,12007189,11734557,8825641,8406438,7951320,7655467,7539744 6756 NM_005635,AL683817,CH471164,BC001003,BC125151,BC128611,BC133693,BC148313,BC150487,X86174 NP_005626,CAI41141,EAW59344,AAH01003,AAI25152,AAI28612,AAI33694,AAI50488,CAA60110,Q16384,ABM81899,ABW03372 Hs.434142,Hs.694472 GDB:584999 MGC150425|MGC5162|SSRC protein-coding 2292186 SSX10 synovial sarcoma, X breakpoint 10 15772651 100128582 XM_001714824 XP_001714876,A6NEJ1 protein-coding 1343303 SSX2 synovial sarcoma, X breakpoint 2 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are probably responsible for transforming activity. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 12037676,11256614,11076863,10749136,9285793,8840996,8152806,7655467,7495284,16189514,11368913,12007189,7539744,7951320,16546222,16381901,16152617,15772651,15735574,15596411,15489336,15489334,12477932,12216073 6757 NM_175698,NM_003147,AL445236,AL450023,AL596242,CH471266,CS017256,CS017258,AF190791,BC002818,BC007343,BC016957,BC069313,BC071827,BC103863,BG104299,S79332,X86175,Z49105 NP_783629,NP_003138,CAI41623,CAI41624,CAI41151,CAI41152,CAI41157,CAI41158,CAD18884,EAW55861,EAW55862,EAW55863,CAI54191,CAI54192,AAF44724,AAH02818,AAH07343,AAH16957,AAH69313,AAH71827,AAI03864,AAB35379,CAA60111,O75101,Q0JS37,Q16385,Q8WWZ9,Q9NZK4,CAL38677,ABZ92236 Hs.289105,Hs.661107 GDB:433709 HD21|HOM-MEL-40|MGC119055|MGC15364|MGC3884|SSX protein-coding 1626582 SSX2B synovial sarcoma, X breakpoint 2B 727837 XM_001720499,AL445236,AL450023 XP_001720551 Hs.289105 protein-coding 736522 SSX2IP synovial sarcoma, X breakpoint 2 interacting protein 11256614,16565220,16381901,16112646,15489336,15489334,14702039,12477932,12446711,12007189,11230166,11076863,10231032,16189514 117178 NM_014021,AC114482,CH471097,AB023140,AK001710,AK021515,AK023097,AK093173,AK292475,AL133046,AY367055,AY651262,BC033637,BC035580,BC064389,CR611558,CR613292 NP_054740,EAW73223,EAW73224,EAW73225,EAW73226,EAW73227,EAW73228,BAA76767,BAF85164,CAB61373,AAQ72373,AAH33637,AAH64389,Q0JSJ6,Q9Y2D8,CAL38518,ABM82062,ABM85241 Hs.22587 GDB:11508867 ADIP|FLJ10848|KIAA0923|MGC75026 protein-coding 1345829 SSX3 synovial sarcoma, X breakpoint 3 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 15772651,15489334,12477932,12216073,12007189,9378559,8697803,16189514 10214 NM_021014,NM_175711,AL606490,CH471164,BC005904,BC103862,S82471,U90840 NP_066294,NP_783642,CAI40267,CAI40268,CAI40269,EAW59347,EAW59348,EAW59349,AAH05904,AAI03863,AAB37436,AAC05819,Q5JQZ4,Q99909,Q9BRW7 Hs.558445 GDB:9955709 MGC119054|MGC14495 protein-coding 1347099 SSX4 synovial sarcoma, X breakpoint 4 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 16189514,15814740,15772651,15489334,12477932,12216073,12037676,12007189,11433527,11368913,11179834,11107170,10359553,9378559 6759 NM_005636,NM_175729,XM_001725018,NG_005575,AL606490,AX740218,BC005325,BC103864,U90841 NP_005627,NP_783856,XP_001725070,CAI40273,CAD90570,AAH05325,AAI03865,AAC05820,O60224,Q3SYD4,ABZ92238 Hs.558402 GDB:1301211 MGC119056|MGC12411 protein-coding 1604130 SSX4B synovial sarcoma, X breakpoint 4B The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4B, represents the more centromeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. 15489334,12216073,11368913,11179834,11107170,10359553,9378559,15814740,15772651 548313 NM_001040612,NM_001034832,NG_005575,AF196972,AL606490 NP_001035702,NP_001030004,CAI40260,O60224,AAI48552,AAI53139 Hs.648298 protein-coding 1606578 SSX5 synovial sarcoma, X breakpoint 5 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. Two transcript variants encoding distinct isoforms have been identified for this gene. 16546222,15772651,15489334,12477932,12216073,12007189,11179834,11107170,9378559 6758 NM_175723,NM_021015,AL356464,AL683817,CH471164,BC016640,U90842 NP_783729,NP_066295,CAI40523,CAI40524,CAI41130,CAI41133,CAI41134,EAW59342,EAW59343,AAH16640,AAC05821,O60225,Q5JQ60,ABZ92237 Hs.166198 GDB:1301212 MGC9494 protein-coding 1353514 SSX6 synovial sarcoma, X breakpoint 6 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. 1580863 17117414,15772651,12216073,11107170 280657 NM_173357,AL356464,CH471164,Z98304,BK000686 NP_775493,CAI40525,EAW59339,EAW59340,CAC41947,CAI42940,DAA00373,Q7RTT6,Q96QI0,AAI48533,AAI53126 Hs.511998 dJ54B20.1 protein-coding 1344094 SSX7 synovial sarcoma, X breakpoint 7 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. 1580863 15772651,12216073,11179834 280658 NM_173358,AL450023,CH471266,BK000687 NP_775494,CAI41147,EAW55864,EAW55865,DAA00374,Q7RTT5,AAI40463 Hs.558712 protein-coding 1348093 SSX8 synovial sarcoma, X breakpoint 8 1580863 280659 Q7RTT4 NM_174961 1350884 SSX9 synovial sarcoma, X breakpoint 9 The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. 1580863 16344560,15772651,12477932,12216073 280660 NM_174962,AL606490,CH471164,BK000689,DB029485 NP_777622,CAI40264,EAW59346,DAA00376,Q7RTT3 Hs.553667 protein-coding 1343405 ST11 suppression of tumorigenicity 11 (pancreas) 9218518 8466 GDB:9955208 733794 ST13 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that is a candidate tumor suppressor gene. 1580863 17013759,16807684,16358374,15845543,15664198,15637739,15489334,15461802,15231748,15071092,12477932,11751889,11687574,11559757,10781595,10702249,10591208,10508479,9925927,9857057,9594214,9452498,9387309,9292708,8887650,16189514,8721986,17535810,17081983 6767 NM_003932,CH471095,AF116650,AK130770,AY513286,AY826824,AY826825,BC015317,BC052982,BC071629,BC107148,BC121107,BC121108,BC139724,BG706239,CR456586,CR592284,CR592764,CR593758,CR594833,CR596395,CR606507,CR607174,CR607448,CR607785,CR608217,CR610981,CR612386,CR615156,CR617206,CR617748,CR623583,CR625864,U17714,U28918 NP_003923,EAW60394,EAW60395,EAW60396,AAF71070,AAT08039,AAX18644,AAX18645,AAH15317,AAH52982,AAH71629,AAI07149,AAI21108,AAI21109,AAI39725,CAG30472,AAC97526,AAB38382,P50502,Q0IJ56,Q1XBU6,Q1XBU7,Q2TU77,Q3KNR6,Q9P1I4,CAK54617,CAK54916 Hs.707999 GDB:9836808 AAG2|FAM10A1|FAM10A4|FLJ27260|HIP|HOP|HSPABP|HSPABP1|MGC129952|P48|PRO0786|SNC6 suppression of tumorigenicity 13 (colon carcinoma) hsp70-interacting protein protein-coding 1348550 ST13P suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 170553 NG_001058,AL049737 GDB:11507949 FAM10A2|FAM10A2P|dJ828K20.1 pseudo 733374 ST14 suppression of tumorigenicity 14 (colon carcinoma) The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. 1580863 10373424,10831593,17981575,17981566,17978729,17940283,17456594,17389401,17344310,17273967,17228523,17131055,16820046,16794252,16501837,16439987,16407223,16353247,16341674,16273651,16237759,16103220,16007225,15611789,15489334,15200890,15075215,14747469,14584072,12738778,12498394,12477932,12372819,11864986,11792696,11290548,11125283,10962009,10500122,10373425,9925927 6768 NM_021978,AF283256,AP001183,CH471065,AB030036,AF057145,AF118224,AF133086,BC005826,BC018146,BC030532,BM791311,BQ059215,CR594334,CR620300 NP_068813,AAG13949,EAW67776,BAB20376,AAG15395,AAD42765,AAF00109,AAH05826,AAH18146,AAH30532,Q8WVC1,Q9Y5Y6,ABM82552,ABM85368 Hs.504315 GDB:9836809 HAI|MT-SP1|MTSP-1|MTSP1|PRSS14|SNC19|TADG-15 suppression of tumorigenicity 14 protein-coding 736954 ST18 suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1580863 15489893,15489334,12477932,9628581 9705 NM_014682,AC021915,AC103831,CH471068,AB011107,BC031075,BC117147,BC117149 NP_055497,EAW86715,EAW86716,EAW86717,BAA25461,AAI17148,AAI17150,O60284 Hs.655499 KIAA0535|ZNF387 neural zinc finger factor 3 protein-coding 1347794 ST2 suppression of tumorigenicity 2 6761 GDB:120389 1626538 ST20 suppressor of tumorigenicity 20 11857354 400410 NM_001100880,NM_001100879,AC015871,CH471136,AF249277,AL109714,BM559302,BQ680929 NP_001094350,NP_001094349,EAW99130,AAG17280,Q9HBF5 Hs.709593 HCCS-1 protein-coding 1342745 ST3 suppression of tumorigenicity 3 6762 GDB:120390 1603709 ST3GAL1 ST3 beta-galactoside alpha-2,3-sialyltransferase 1 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. 10504389,18180429,18163389,17947642,16053379,15489334,12477932,11690653,8027041,7655169,2829950,2649653,2542563,2541446,2187500 6482 NM_003033,NM_173344,AC103706,AF186191,CH471060,AF059321,AL709325,BC018357,BX648001,CR604109,L13972,L29555 ABM82082,ABM85261,NP_003024,NP_775479,EAW92172,EAW92173,EAW92174,AAC17874,AAH18357,AAC37574,AAA36612,Q11201 Hs.584803 GDB:384704 Gal-NAc6S|MGC9183|SIAT4A|SIATFL|ST3GalA|ST3GalA.1|ST3GalIA,1|ST3O protein-coding 1348054 ST3GAL2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. 8920913,7655169,2829950,2649653,2542563,2541446,2187500,9266697,15489334,14702039,12504121,12477932 6483 NM_006927,AF086257,AI933719,AK127322,BC036777,BC064480,BI832366,U63090,X96667,AC012184,CH471241 NP_008858,EAW51820,EAW51818,EAW51821,EAW51819,AAH36777,AAB40389,CAA65447,Q16842 Hs.368611 GDB:384705 Gal-NAc6S|SIAT4B|ST3GALII|ST3GalA.2 protein-coding 1603708 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Multiple transcript variants encoding several different isoforms have been found for this gene. 8333853,17101770,15489334,15316282,14722111,12931020,12815231,12716912,12697334,12477932,9451034,8027041,12504121,2829950,2649653,2542563,2541446,2187500 6487 NM_174964,NM_174963,NM_174965,NM_174968,NM_006279,NM_174966,NM_174967,NM_174971,NM_174969,NM_174970,AL357079,AL451062,AL592548,CH471059,AF425851,AF425852,AF425853,AF425854,AF425855,AF425856,AF425857,AF425858,AF425859,AF425860,AF425861,AF425862,AF425863,AF425864,AF425865,AF425866,AF425867,AF425868,AF425869,AY051143,AY167992,AY167993,AY167994,AY167995,AY167996,AY167997,AY167998,BC050380,CR613052,L23768 NP_777623,NP_777624,NP_777625,NP_777628,NP_006270,NP_777626,NP_777627,NP_777631,NP_777629,NP_777630,CAI16785,CAI16786,CAI16787,CAI16788,CAI16789,CAI16790,CAI16791,CAI16792,CAI16793,CAI16794,CAI16795,CAI16796,EAX07082,EAX07083,EAX07084,AAO13859,AAO13860,AAO13861,AAO13862,AAO13863,AAO13864,AAO13865,AAO13866,AAO13867,AAO13868,AAO13869,AAO13870,AAO13871,AAO13872,AAO13873,AAO13874,AAO13875,AAO13876,AAO13877,AAL14347,AAO38806,AAO38807,AAO38808,AAO38809,AAO38810,AAO38811,AAO38812,AAH50380,AAA35778,Q11203,Q5SXE7,Q5SXE8,Q5SXE9,Q5SXF0,Q5SXF1,Q5SXF2,Q5SXF3,Q5SXF4,Q5SXF5,Q5SXF6,Q5SXF7,Q5SXF8,Q96L53 Hs.597915 GDB:385441 SIAT6|ST3GALII|ST3Gal III|ST3GalIII|ST3N protein-coding 1353529 ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 Synthesis of alpha-2,3-linked sialic acid to Gal(beta-1,3)GalNAc is mediated by at least 3 distinct beta-galactoside alpha-2,3-sialyltransferases (EC 2.4.99.4), including ST3GAL4. In contrast, only a single gene encodes the beta-galactoside alpha-2,6-sialyltransferase (EC 2.4.99.1), ST6GAL1 (MIM 109675) (Chang et al., 1995 [PubMed 7655169]).[supplied by OMIM] 8557707,17054948,15489334,14702039,12565846,12477932,12459555,12441665,12375029,8611500,8288606,7901202,7655169,7588599,2829950,2649653,2542563,2541446,2187500 6484 CR616349,CR616626,CR618526,CR614499,CR618582,CR620801,CR621052,CR623753,CR624587,L23767,X74570,NM_006278,AP000806,AP001318,CH471065,L29553,AF035249,AF516602,AF516603,AF516604,AF525084,AK021929,AK291577,AY040826,BC010645,CR456858,CR595606,CR595607,CR598875,CR602167,CR603316,CR604023,CR605032,CR610249,CR613427,CR614162 AAA16460,CAA52662,Q11206,Q6IBE6,Q8N6A6,Q8N6A7,Q8NFD3,Q8NFG7,Q9HAA9,NP_006269,EAW67693,EAW67694,EAW67695,EAW67696,EAW67697,AAC14162,AAM66431,AAM66432,AAM66433,AAM81378,BAB13940,BAF84266,AAK93790,AAH10645,CAG33139 Hs.591947 GDB:120585 CGS23|FLJ11867|NANTA3|SAT3|SIAT4|SIAT4C|ST3GalIV|STZ protein-coding 1346095 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. 9822625,16934889,15815621,15502825,15385432,14702039,12975309,12527423,12477932,12393190,11595162,11030748,10619706,10092602,8889548 8869 NM_003896,NM_001042437,AC105053,AF488709,CH471053,AB018356,AF105026,AF119415,AF119417,AF119418,AF161396,AF344831,AK001340,AK127346,AY152815,AY359105,BC009887,BC065936,BI820835,CA503200,CR600904 NP_003887,NP_001035902,AAY24147,EAW99474,EAW99475,EAW99476,EAW99477,EAW99478,EAW99479,EAW99480,BAA33950,AAD14634,AAF66146,AAF28956,AAO16866,AAQ89463,AAH65936,Q9P0A3,Q9UNP4 Hs.415117 GDB:9957474 SIAT9|SIATGM3S|ST3GalV protein-coding 1349452 ST3GAL6 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 Sialyltransferases, such as ST3GAL6, catalyze the transfer of sialic acid from cytidine 5-prime monophospho-N-acetylneuraminic acid (CMP-NeuAc) to terminal positions of glycoprotein and glycolipid carbohydrate groups. Terminal NeuAc residues are key determinants of carbohydrate structures, such as the sialyl-Lewis X determinants, and are widely distributed in many cell types.[supplied by OMIM] 10206952,15489334,14702039,12477932 10402 NM_006100,AC106728,CH471052,AB022918,AF119391,AK001922,BC001266,BC012092,BC023312,CR607538,CR624848 NP_006091,EAW79849,EAW79850,EAW79851,EAW79852,EAW79853,BAA77609,AAD39131,AAH23312,Q9Y274 Hs.148716 SIAT10|ST3GALVI protein-coding 1350060 ST4 suppression of tumorigenicity 4 (malignant melanoma) 1680551 6763 GDB:120758 1319089 ST5 suppression of tumorigenicity 5 This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. 9632734,17081983,15489334,15231748,12477932,11528127,10692462,10229203,8972856,1390339,15778465 6764 NM_005418,NM_139157,NM_213618,AC026894,AC091053,AJ400879,CH471064,AK126554,AK127763,BC036655,BX647431,CR611680,S45936,U15131,U15779,U15780 NP_005409,NP_631896,NP_998783,CAC35387,EAW68617,EAW68618,BAC86590,AAH36655,AAB23647,AAC50925,AAB97097,AAC50926,P78524,Q6ZTJ7,ABM83409,ABM86620 Hs.117715 GDB:132853 DENND2B|HTS1|MGC33090|p126 protein-coding 1601776 ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein, which is normally found in the Golgi but which can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CDw75, and CD76. This protein is a member of glycosyltransferase family 29. Three transcript variants encoding two different isoforms have been found for this gene. 17897958,7786324,17697868,16319516,16192407,16053379,15489334,14702039,14514712,12943659,12931020,12878221,12798701,12692561,12499376,12477932,11356854,11320056,10460832,9110174,8995311,8953271,8920923,8724135,8702538,8619474,8477718,8144653,7768954,7615680,2803295,2408023,2373995,1730763 6480 NM_173216,NM_173217,NM_003032,AC007488,AC007690,CH471052,AF007133,AK128726,AK292879,BC031476,BC040009,CR594116,CR619308,L11720,U67847,U67848,X17247,X54363,X62822,A17362,A23699 NP_775323,NP_775324,NP_003023,EAW78158,EAW78159,EAW78160,EAW78161,EAW78162,EAW78163,EAW78164,AAH31476,AAH40009,CAA35111,CAA38246,CAA44634,P15907,CAA01327,CAA01686,BAF85568 Hs.207459 GDB:132150 CD75|MGC48859|SIAT1|ST6Gal I|ST6GalI|ST6N protein-coding 1348221 ST6GAL2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 Sialyltransferases, such as ST6GAL2 (EC 2.4.99.1), are type II transmembrane proteins that catalyze the transfer of sialic acid from CMP-sialic acid to an acceptor carbohydrate, usually to the terminal ends of carbohydrate chains.[supplied by OMIM] 12235148,14702039,12603328,12477932,11347906 84620 NM_032528,AC005040,AC016994,AC108049,CH471127,AB058780,AB059555,AJ512141,AK055273,AK095049,AK095653,BC008680 NP_115917,AAY15022,EAX01742,EAX01743,BAB47506,BAC24793,CAD54408,BAC04598,AAH08680,Q96JF0 Hs.98265 GDB:385437 FLJ30711|FLJ37730|FLJ38334|KIAA1877|SIAT2|ST6GalII protein-coding 1349171 ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM] 10536037,17081983,16344560,16319059,12975309,12820722,12770770,12477932,10207017 55808 Y11339,NM_018414,AC005837,CH471099,Y11340,AK000113,AY096001,AY358918,BC022462,BC063830,DA594489 NP_060884,EAW89419,EAW89420,EAW89421,EAW89422,EAW89423,CAA72180,BAA90953,AAM22800,AAQ89277,AAH22462,CAA72179,Q8TBJ6,Q9NSC7,Q9NXQ7 Hs.105352 HSY11339|SIAT7A|ST6GalNAcI|STYI protein-coding 1343813 ST6GALNAC2 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM] 17480010,17418236,15489334,15231748,12477932,11984005,10742600,9373149,8125298 10610 NM_006456,AC015802,CH471099,AJ251053,AK225943,BC038114,BC040455,BC044607,BT019972,U14550 NP_006447,EAW89416,EAW89417,EAW89418,CAB61434,AAH40455,AAV38775,AAA52228,Q9UJ37 Hs.592105,Hs.624415 SAITL1|SIAT7|SIAT7B|SIATL1|ST6GalNAII|STHM protein-coding 1345799 ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM] 16169874,15843597,14702039,12975309,12477932,10207017 256435 NM_152996,AC092813,AC098655,AC103592,AC104458,AL596217,CH471059,AJ507291,AK091215,AY358540,BC039520,BC059363,BX648274 NP_694541,EAX06388,EAX06389,CAD45371,BAC03611,AAQ88904,AAH59363,Q6PCE0,Q8NDV1 Hs.337040 PRO7177|SIAT7C|ST6GALNACIII protein-coding 1350452 ST6GALNAC4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. 10207017,17081983,15528990,15489334,14702039,12594047,12477932,12459555,11062056,10369878,8681137 27090 AK000600,AK292049,BC036705,CB126299,F27902,NM_175039,AF162789,AL157935,CH471090,NM_175040,Y17460,Y17461,AB035172,AF127142,AJ271734 BAA91281,BAF84738,AAH36705,Q5T9D0,Q9H4F1,NP_778205,NP_778204,AAF32237,CAI12613,EAW87717,EAW87718,EAW87719,EAW87720,EAW87721,CAB44353,CAB44354,BAA87034,AAF00102,CAC07404 Hs.3972,Hs.696547 GDB:11504559 SIAT3C|SIAT7D|ST6GALNACIV protein-coding 1352256 ST6GALNAC5 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 ST6GALNAC5 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM] 15843597,15489334,14702039,12668675,12477932,10601645,10521438 81849 NM_030965,AC096951,AC099060,AL035409,AL954680,BX284687,CH471059,AJ507292,AK056241,AK095758,BC001201,CR610298 NP_112227,EAX06386,CAD45372,BAB71127,AAH01201,Q5TG75,Q9BVH7 Hs.303609 MGC3184|SIAT7E|ST6GalNAcV protein-coding 1354318 ST6GALNAC6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM] 10702226,17123352,16713569,15843597,14702039,12975309,12668675,12477932 30815 NM_013443,AL157935,CH471090,AB035173,AJ507293,AK023900,AK025959,AK057100,AK226174,AY358672,BC006564,BC007802,BC016299,BC036102,CR457318,CR592171,CR599905 NP_038471,CAI12609,CAI12610,CAI12611,CAI12612,EAW87710,EAW87711,EAW87712,EAW87713,EAW87714,EAW87715,BAA87035,CAD45373,BAB14715,AAQ89035,AAH06564,AAH07802,AAH16299,CAG33599,Q5U601,Q969X2 Hs.109672 RP11-203J24.3|SIAT7F|ST6GALNACVI protein-coding 1343912 ST7 suppression of tumorigenicity 7 The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. 1580863 16683024,14702039,14669308,14534688,12853948,12809483,12690205,12545169,12477932,12231539,12213198,12107844,11279520,10889047,10889044,8938430,8105370,7991599,7987830,7624150 7982 NM_018412,NM_021908,AC002542,AC003987,AC106873,AF234886,CH236947,CH471070,AF234882,AF234883,AF415174,AJ277291,AK093212,AK292372,AY009152,AY009153,BC030954,BC075855,CR590239,CR936656 NP_060882,NP_068708,AAS07414,AAS07415,AAS02042,AAS07529,AAF85949,EAL24356,EAL24357,EAW83516,EAW83517,EAW83518,EAW83519,EAW83520,EAW83521,AAF85945,AAF85946,AAL85662,CAB86869,BAC04097,BAF85061,AAG37720,AAG37721,AAH30954,AAH75855,CAI56794,Q5CZ72,Q75MZ7,Q7LE31,Q7LE32,Q8NA32,Q8NEJ8,Q8TDI9,Q9BWX3,Q9BWX4,Q9NRC0,Q9NRC1,Q9NRC2,Q9NXZ7,ABM83573,ABM86812 Hs.368131 GDB:461102 DKFZp762O2113|ETS7q|FAM4A1|HELG|RAY1|SEN4|TSG7 protein-coding 1342887 ST7L suppression of tumorigenicity 7 like This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. The function of this gene has not yet been determined. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. 1580863 14702039,12477932,12063568,12012006,9373149,8125298 54879 NM_138728,NM_017744,NM_138727,NM_138729,AL109932,AL929470,CH471122,AB081317,AB081318,AB081319,AB081320,AK000291,AK021719,AK095837,AK097837,AK225307,AK291042,BC037830,BC047392,BC065501,BX537988,BX538338,BX640667,CD358134,CR600185,BC027898 NP_620056,NP_060214,NP_620055,NP_620057,CAI22699,CAI22700,CAI22701,CAI22702,CAI22704,CAI22705,CAI22707,CAI22708,EAW56520,EAW56521,EAW56522,EAW56523,EAW56524,BAB88871,BAB88872,BAB88873,BAB88874,BAA91060,BAC05180,BAF83731,AAH37830,AAH47392,AAH65501,CAD97948,CAD98103,CAE45803,Q49AH6,Q5SP56,Q5SP61,Q5U5K6,Q6N067,Q7Z2Z0,Q7Z3C2,Q8N7P8,Q8TDW1,Q8TDW2,Q8TDW3,Q8TDW4,Q9NXF3 Hs.201921 GDB:11507951 FLJ11657|FLJ20284|ST7R|STLR protein-coding 1349937 ST7OT1 ST7 overlapping transcript 1 (antisense non-coding RNA) 12213198 93653 NR_002330,AC106873,CH236947,AF400039,CR598120,CR607710 Hs.597516 GDB:11508817 miscrna 1353207 ST7OT2 ST7 overlapping transcript 2 (antisense non-coding RNA) 12213198 93654 NR_002331,AC002542,CH236947,AF400040,AF400041,AF400042,AF400043,AF400045 Hs.571240,Hs.628891 GDB:11508821 miscrna 1606986 ST7OT3 ST7 overlapping transcript 3 (non-coding RNA) 12213198,10889047,10889044 93655 AF400044 Hs.368131 GDB:11508822 miscrna 1346581 ST7OT4 ST7 overlapping transcript 4 (non-coding RNA) 12477932,12213198 338069 NR_002329,AC106873,CH236947,BC043268 Hs.662742 miscrna 1349426 ST8 suppression of tumorigenicity 8 (ovarian) 1394208 6765 GDB:6118456 1603707 ST8SIA1 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. 8195250,18348864,18261989,17913261,16862187,16481330,16120058,15489334,15319364,15196944,15175338,12818424,12477932,11849746,10766765,9287216,8889548,8786103,8631981,8058740,7937974,7901202 6489 AC007544,AC007671,AC087318,CH471094,AF088002,AK290941,AY569975,BC031081,BC046158,BC117285,BC126162,BM929838,D26360,EU041716,NM_003034,L32867,L43494,X77922 NP_003025,EAW96468,EAW96469,EAW96470,EAW96471,BAF83630,AAS75783,AAH46158,AAI17286,AAI26163,BAA05391,ABU62753,AAA62366,AAC37586,CAA54891,Q0P673,Q6PZN5,Q86X71,Q92185 Hs.408614 GDB:370916 GD3S|SIAT8|SIAT8A|ST8SiaI protein-coding 1351358 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. 10766765,7559389,9054414,17126533,16229822,15710344,15489334,12975309,12477932,12138100,11744634,9852130,8702635,8027041,7588599,15466855 8128 NM_006011,AC090985,AC116162,CH471101,AW163487,AY358091,BC069584,BC096202,BC096203,BC096204,BC096205,BX537981,L29556,U33551,U82762 NP_006002,EAX02149,AAQ88458,AAH69584,AAH96202,AAH96203,AAH96204,AAH96205,AAA36613,AAC24458,AAB51242,Q4VAY9,Q4VAZ2,Q6UY40,Q92186 Hs.302341 GDB:9954539 HsT19690|MGC116854|MGC116857|SIAT8B|ST8SIA-II|STX protein-coding 1606293 ST8SIA3 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM] 10766765,9073076,16643848,15489334,14702039,12477932,9826427 51046 NM_015879,AC090208,CH471096,AB208996,AF003092,AF004668,AK054939,AK123291,AK289517,BC074909 NP_056963,EAW63043,BAD92233,AAC15901,AAB87642,BAF82206,AAH74909,O43173,Q59GW3 Hs.23172 GDB:11507815 SIAT8C|ST8SiaIII protein-coding 1603321 ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. 10766765,9054414,17176637,16229822,16027151,15710344,15489334,12477932,12227654,12138100,11744634,11279095,10660622,9852130,9774483,7854457,7624364,12046348 7903 NM_005668,NM_175052,AC010411,AC117530,CH471086,AK292872,BC027866,BC040671,BC053657,BI858673,BM921020,L41680 NP_005659,NP_778222,EAW49104,EAW49105,BAF85561,AAH27866,AAH53657,AAC41775,Q8N1F4,Q92187 Hs.308628 GDB:1327254 MGC34450|MGC61459|PST|PST1|SIAT8D|ST8SIA-IV protein-coding 1349184 ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. 9199191,14702039,12477932,9129712 29906 NM_013305,AC064800,AC090311,CH471088,AK056270,AK094273,AK130126,BC108910,BC108911,BX105571,CR457037,U55966,U91641 NP_037437,EAX01482,EAX01483,AAI08911,AAI08912,CAG33318,AAC51727,O15466,Q6IAW7 Hs.465025 GDB:11507817 MGC119670|MGC119671|SIAT8E|ST8SiaV protein-coding 1605541 ST8SIA6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 Sialic acid is a key determinate of oligosaccharide structures involved in cell-cell communication, cell-substrate interaction, adhesion, and protein targeting. ST8SIA6 belongs to a family of sialyltransferases (EC 2.4.99.8) that synthesize sialylglycoconjugates (Takashima et al., 2002 [PubMed 11980897]).[supplied by OMIM] 16857734,15843597,15164054,11980897 338596 NM_001004470,AL158164,AL160289,EF445032,AB062101,AJ621583,BX951710 NP_001004470,CAI40658,CAH70722,ACA06074,ACA06075,BAE94653,CAF21722,P61647,Q1HAZ0 Hs.677766 SIA8F|SIAT8F|ST8SIA-VI protein-coding 1321166 STAB1 stabilin 1 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. 15345724,15345716,15297319,14702039,12616502,12473645,12168954,11829752,10737800,9039502,12077138,17006978,16670288,16357325,15572036 23166 NM_015136,AC006208,AC112215,CH471055,AB052956,AB052957,AJ275213,AK091600,AK093774,AK097061,BC150250,BE242606,BI001474,D87433,DQ786774 NP_055951,EAW65232,EAW65233,EAW65234,BAC15606,BAC15607,CAB61827,AAI50251,BAA13377,ABG91068,Q0PNF2,Q9NY15 Hs.301989 GDB:9785351 CLEVER-1|FEEL-1|FELE-1|FEX1|KIAA0246|STAB-1 protein-coding 1349105 STAB2 stabilin 2 This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. 1580863 12077138,11829752,17145755,15572036,15208308,14702039,12751488,12626425,12473645 55576 NM_017564,AC025265,AC084364,CH471054,AB052958,AF160476,AJ295695,AK024503,AK074051,AK160380,AL133021,AY227444,AY311388 NP_060034,EAW97711,EAW97712,EAW97713,EAW97714,BAC15608,AAF82398,CAC82105,BAB15793,BAB84877,BAD18723,CAB61358,AAO39681,AAP74958,Q8WWQ8,Q9UF98 Hs.408249 GDB:11510219 DKFZp434E0321|FEEL-2|FELE-2|FELL|FELL-2|FEX2|HARE|STAB-2 protein-coding 1313960 STAC SH3 and cysteine rich domain 1580863 8954993,14702039,12477932,10393425 6769 NM_003149,AC092051,AC098648,CH471055,AK056893,BC020221,CR594767,D86640 NP_003140,EAW64474,AAH20221,BAA13152,Q8WUK8,Q99469,ABM83106,ABM86300,ABM86301 Hs.56045 GDB:6860481 FLJ32331|STAC1 protein-coding 1313639 STAC2 SH3 and cysteine rich domain 2 16713569,15489334,14702039,12477932 342667 NM_198993,AC004408,AC015910,CH471152,AJ608762,AK131500,BC109231 NP_945344,EAW60569,EAW60570,CAE75539,BAD18644,AAI09232,Q6ZMT1 Hs.145068 24b2|24b2/STAC2|MGC129694 protein-coding 1319045 STAC3 SH3 and cysteine rich domain 3 737633,1580863 16189514,15489334,14702039,12477932 737633 246329 NM_145064,AC137834,CH471054,AK057013,BC008069 NP_659501,EAW97004,EAW97005,EAW97006,EAW97007,BAB71343,AAH08069,Q96MF2 Hs.417595 MGC2793 protein-coding 1321827 STAG1 stromal antigen 1 This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. 1580863 15855230,9305759,16344560,15489334,15361841,12477932,12034751,11590136,11076961 10274 NM_005862,AC069514,AC069524,AC107425,AC117382,AC128712,CH471052,AB210023,AU132652,BC017735,BC040708,BC064699,CR614749,CR749247,Z75330 NP_005853,EAW79114,EAW79115,BAE06105,AAH17735,AAH64699,CAH18103,CAA99731,Q4LE48,Q68DW7,Q6P275,Q8WVM7 Hs.412586 GDB:9955848 DKFZp781D1416|SA1 protein-coding 1343297 STAG2 stromal antigen 2 1580863 15855230,9305759,17081983,16344560,15772651,15737064,15737063,15489334,15302935,14660624,12477932,12034751,11590136,11076961,8889548,7690594 10735 NM_001042750,NM_001042751,NM_006603,AL121601,AL355476,CH471107,AA428995,AK026678,AK098737,AL831939,BC001765,BC017095,BX640970,BX641002,BX641003,CB250478,CR593918,CR627425,CR749433,NM_001042749,DA214149,DA534452 NP_001036214,NP_001036215,NP_001036216,NP_006594,EAX11853,EAX11854,EAX11855,EAX11856,EAX11857,CAD38591,AAH01765,CAE45985,CAE46005,CAE46006,CAH10512,CAH18271,Q5JTI4,Q5JTI5,Q5JTI7,Q5JTI8,Q5JTI9,Q5JTJ0,Q68DE9,Q6AI02,Q6MZM3,Q6MZM4,Q6MZP3,Q8N3U4 Hs.496710,Hs.624663 GDB:9958234 DKFZp686P168|DKFZp781H1753|FLJ25871|SA-2|SA2|bA517O1.1 protein-coding 737601 STAG3 stromal antigen 3 1580863 10698974,18299561,12477932,12034751,15125634 10734 NM_012447,AC005071,AC073842,CH236956,CH471091,AJ007798,AK292394,AL833816,BC028684,BC047490,BC140932,BC146806,BG772730 NP_036579,EAW76568,EAW76570,CAB59367,BAF85083,CAD38679,AAI40933,AAI46807,Q9UJ98 Hs.592283 GDB:9958233 protein-coding 1604012 STAG3L1 stromal antigen 3-like 1 12477932,9847074 54441 BG394610,BG504898,BG829469,BM311130,BQ675800,CK003548,NM_018991,NM_001002840,XM_001720660,AC005488,AC006014,AA724158,AK291820,AL137492,BC010433,BC030509,BC108680,BC119762 AAI19763,Q7L1H2,AAI46457,AAI53080,NP_061864,NP_001002840,XP_001720712,AAP22359,BAF84509,AAH30509,AAI08681 Hs.632310 DKFZP434A0131|MGC131759|MGC40269 protein-coding 2291785 STAG3L2 stromal antigen 3-like 2 12477932 442582 NM_001025202,AC004166,BC002581,BC119761,BG537494,BI753182,BQ028473 NP_001020373,AAH02581,AAI19762 Hs.632310,Hs.647017 MGC131759 protein-coding 1605476 STAG3L3 stromal antigen 3-like 3 16344560,12477932 442578 NM_001013739,AC005488,AK289466,AY313779,BC066937,DA505391,DC395490,DC405605,DC410426 NP_001013761,BAF82155,AAP81010,AAH66937,Q6NXR2 Hs.632310,Hs.696215 protein-coding 1603611 STAG3L4 stromal antigen 3-like 4 14702039,12477932 64940 NM_022906,AC006480,CH471140,AK023257,BC026058,CR457306,CR620672 NP_075057,AAS07569,EAX07881,BAB14491,AAH26058,CAG33587,Q8TBR4 Hs.632013 FLJ13195 protein-coding 1320313 STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 This gene was identified by the rapid tyrosine-phosphorylation of its product in response to cytokine stimulation. The encoded protein contains a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). This protein associates with JAK3 and JAK2 kinases via its ITAM region, and is phosphorylated by the JAK kinases upon cytokine stimulation, which suggests the function of this protein is as an adaptor molecule involved in the downstream signaling of cytokine receptors. HGS/HRS (hepatocyte grwoth factor-regulated tyrosine kinase substrate) has been found to bind and counteract the function of this protein. 1580863 8780729,10383417,10567358,12218189,15962011,17081983,16964243,16730941,16520378,16344560,15951569,15828871,15640163,15489334,15231748,15113837,14702039,12972556,12745081,12551915,12477932,11687594,10993906,10982817,10899310,9407053,9133424,16189514 8027 NM_003473,AC069542,CH471072,AK024383,AU118708,BC030586,BX647982,U43899 NP_003464,EAW86207,EAW86208,EAW86209,AAH30586,AAC50734,Q92783 Hs.441498 GDB:9954449 DKFZp686J2352|STAM1 protein-coding 1322986 STAM2 signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. 1580863 15231747,10567358,12218189,15962011,17403676,17081983,16730941,16713569,16381901,16189514,15951569,15882967,15815621,15489334,15489336,15231748,15144186,15113837,14702039,13129930,12551915,12477932,11687594,11256614,11230166,11076863,10993906,10982817,10899310,9119409 10254 NM_005843,AC079790,AL161997,CH471058,AF042273,AF042274,AK023490,AK292265,AK292847,AL133600,BC022277,BC028740,BI548350,BQ000599 NP_005834,AAY14712,EAX11490,EAX11491,EAX11492,AAC63963,AAC63964,BAF84954,BAF85536,CAB63735,AAH28740,O75886,Q0JT67,CAL38297,ABM83353,ABM86567 Hs.17200 GDB:9955818 DKFZp564C047|Hbp|STAM2A|STAM2B protein-coding 1606575 STAMBP STAM binding protein Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. 10383417,14755250,17711858,17261583,17159328,16854379,16760479,16730941,16716190,16520378,15815621,15489334,15314065,14737182,14728725,14702039,12477932,12370088,11713295,11483516,10899310,10224278,9110174,8619474,16189514 10617 NM_201647,NM_006463,NM_213622,AC073046,BX538085,CH471053,AF052135,AK023768,BC007682,BC065574,BC101467,BC101469,BF203378,BM478027,BQ929694,CR596067,CR598843,U73522 NP_964010,NP_006454,NP_998787,AAX88908,EAW99714,EAW99715,EAW99716,AAH07682,AAH65574,AAI01468,AAI01470,AAD05037,O95630,ABM83542,ABM86782 Hs.469018,Hs.657598 AMSH|MGC126516|MGC126518 protein-coding 1603015 STAMBPL1 STAM binding protein-like 1 17426287,16716190,16189514,15489334,15164054,14728725,14702039,12943674,12810066,10718198,14755250,12477932 57559 NM_020799,AL157394,CH471066,AB010120,AB037794,AK056086,AK090678,AK092946,BC010846,BX649096,CR598186 NP_065850,CAI13861,CAI13862,CAI13863,EAW50156,EAW50157,EAW50158,BAC77766,BAA92611,AAH10846,Q96FJ0 Hs.16229 ALMalpha|AMSH-FP|AMSH-LP|FLJ31524|KIAA1373|bA399O19.2 protein-coding 1603225 STAP1 signal transducing adaptor family member 1 The protein encoded by this gene functions as a docking protein acting downstream of Tec tyrosine kinase in B cell antigen receptor signaling. The protein is directly phosphorylated by Tec in vitro where it participates in a postive feedback loop, increasing Tec activity. 10518561,16964243,16806233,15489334,14615539,12540842,12477932,11716489,11329013,10679268,10358768 26228 NM_012108,AC096720,AC109356,CH471057,AB023483,BC014958,BG190230 NP_036240,AAY40998,EAX05547,EAX05548,BAA85311,AAH14958,Q4W5K1,Q9ULZ2 Hs.435579 BRDG1|STAP-1 protein-coding 1601996 STAP2 signal transducing adaptor family member 2 This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. 17675501,15611091,15489334,14702039,12810085,12540842,12477932,11441184,10980601,7644468 55620 AC008616,AC104521,AJ245719,NM_017720,NM_001013841,XM_001130057,AK000241,AK125774,BC000795,BF677969,CR596893 CAB65105,NP_060190,NP_001013863,XP_001130057,BAA91028,AAH00795,Q9UGK3 Hs.194385 BKS|FLJ20234 protein-coding 735413 STAR steroidogenic acute regulatory protein The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. 1600070,1599698 15897605,16973755,18250166,18084157,18000307,17666473,17433772,17374711,16990645,16901925,16234239,16162390,15985476,15777208,15666812,15546900,15489334,15181096,14764819,14726488,14702039,14565954,12933667,12925534,12909641,12843197,12834921,12727988,12530644,12477932,12372832,12044915,11489878,11145563,11061515,10802740,10566637,10548884,10323391,9804848,9398748,9188726,9110174,9097960,8948562,8943003,8634702,8619474,7761400,7548191,7547998 1600070,1599698 6770 NM_000349,NM_001007243,AC084024,CH471080,DQ194260,DQ194261,DQ243706,U29105,AF035277,AK090513,AL526126,AV706111,AV706872,AV707696,AV708514,AY532319,BC010550,BX647744,CR456803,CR541850,CR591216,CR616953,S79669,U17280 NP_000340,NP_001007244,EAW63334,EAW63335,ABA25863,ABA25864,ABB51615,AAC50234,AAB88174,AAS57684,AAH10550,CAG33084,CAG46648,AAB35726,AAC50141,P49675,Q306J4,Q3LR71,Q3LR72,Q6IBK0,Q6QNJ9,ABM82732,ABM85916 Hs.521535 GDB:635457 STARD1 protein-coding 1315225 STARD10 StAR-related lipid transfer (START) domain containing 10 17561512,15911624,15489334,14702039,14576202,12477932,10810093,9610721 10809 NM_006645,AP002381,AP003065,CH471076,AF039696,AF151810,AK095668,BC007919,BC014033,BC035482,CR599708 NP_006636,EAW74867,EAW74868,EAW74869,EAW74870,EAW74871,EAW74872,AAC18045,AAD34047,AAH07919,AAH14033,Q9Y365 Hs.188606 CGI-52|MGC14401|NY-CO-28|PCTP2|SDCCAG28 protein-coding 1344085 STARD13 StAR-related lipid transfer (START) domain containing 13 1580863 14697242,16217026,15489334,15231748,15057823,14702039,12531887,12477932,8812419,14561217 90627 NM_178006,NM_052851,NM_178007,AL139187,AL627232,CH471075,Z84483,AK091804,AK094704,AK095114,AL049801,AY082589,AY082590,AY082591,AY082592,AY366448,BC046563,BX641149,BX647695,CR597966 NP_821074,NP_443083,NP_821075,CAM23625,CAM23626,CAM17900,EAX08527,EAX08528,EAX08529,EAX08530,EAX08531,CAC94774,CAB42562,AAL91648,AAL91649,AAL91650,AAL91651,AAQ72791,AAH46563,CAE46065,CAI46026,Q6MZG8,Q86XT0,Q9Y3M8 Hs.507704 GDB:11510221 DLC2|FLJ37385|GT650 protein-coding 1347857 STARD3 StAR-related lipid transfer (START) domain containing 3 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD3 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 12011453,9270027,7490069,9139840,17117180,16990645,16709157,15930133,15718238,15489334,15010812,14702039,12477932,12459035,12398991,12393907,12070139,12011452,11196440,11053434,10995240,10802740,9373149,9237999,8125298 10948 AC087491,CH471152,AB209772,AK123364,AK225069,NM_006804,AL831952,BC008356,BC008747,BC019286,BC025679,BC047766,BT006964,CR604890,CR615972,CR617708,D38255,X80198 NP_006795,EAW60584,EAW60585,BAD93009,AAH08356,AAH08747,AAH25679,AAP35610,BAA22525,CAA56489,Q14849,Q59EN9,ABM92192,ABM84661 Hs.77628 GDB:9958632 CAB1|FLJ41370|MLN64|es64 protein-coding 1318520 STARD3NL STARD3 N-terminal like STARD3NL is a late endosomal protein that interacts with MLN64 (STARD3; MIM 607048) and may mediate endosomal cholesterol transport (Alpy et al., 2002 [PubMed 12393907]; Alpy and Tomasetto, 2006 [PubMed 16709157]).[supplied by OMIM] 1580863 17081983,16709157,15718238,15489334,14715710,14702039,12975309,12853948,12690205,12477932,12393907,9847074 83930 NM_032016,AC006033,AC093460,CH236951,CR600081,CR600146,CR609062,CR609534,CR610017,CR613249,CR617578,CR622332,CR622841,CR624249,CR625702,CR626446,X85793,CH471073,CS101346,AJ492267,AK091579,AY358645,BC003074,BC005959 NP_114405,AAS07552,EAL23983,AAH05959,CAA59792,O95772,Q86TP2,ABM86264,EAW94088,EAW94089,EAW94090,CAJ00716,CAD37353,AAQ89008,AAH03074 Hs.309753 MENTHO|MGC3251 protein-coding 1319833 STARD4 StAR-related lipid transfer (START) domain containing 4 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 16579971,15760897,14702039,12477932,12011452 134429 NM_139164,AC011422,CH471086,AF480299,AK054566,AK125317,AK290312,AL832599,BC019632,BC042956 NP_631903,EAW49026,EAW49027,EAW49028,EAW49029,EAW49030,EAW49031,AAL87129,BAB70759,BAF83001,CAD89942,AAH42956,Q86T95,Q86TN9,Q96DR4 Hs.93842 GDB:11507953 protein-coding 1317618 STARD5 StAR-related lipid transfer (START) domain containing 5 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD5 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 15583024,15897605,16534142,15760897,15489334,14702039,12770731,12477932,12011452,11247670,9373149,8125298 80765 NM_181900,AC103858,CH471136,AF480304,AK026352,AK097024,AK225479,AL137657,BC004365 NP_871629,EAW99095,EAW99096,EAW99097,AAL89654,CAB70862,AAH04365,Q9NSY2 Hs.513075 GDB:11507955 MGC10327 protein-coding 1351128 STARD6 StAR-related lipid transfer (START) domain containing 6 Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM] 1580863 12011452 147323 NM_139171,AC093462,CH471096,AF480305 NP_631910,EAW63002,EAW63003,EAW63004,EAW63005,AAL89655,P59095,AAI40309,AAI46469 Hs.438779 GDB:11507957 protein-coding 1316908 STARD7 StAR-related lipid transfer (START) domain containing 7 Although the function of this gene is not known, its existence is supported by mRNA and EST data. The predicted gene product contains a region similar to the STAR-related lipid transfer (START) domain, which is often present in proteins involved in the cell signaling mediated by lipid binding. Alternatively spliced transcript variants have been described, although some transcripts occur only in cancer cell lines. 17672918,15489334,15146197,15013637,14702039,12477932 56910 CR606991,CR609652,CR749695,CN394859,NM_020151,AC012307,CH471207,AB075479,AF270647,AK023234,AK054615,AK094925,AK096666,AK291190,AL542720,BC003028,BC007894,BC008894,BC009998,BC012774,BC012793,BC013279,BC014076,BC014274,BC032106 Q53T44,Q9NQZ5,NP_064536,AAY24223,EAW71382,EAW71383,AAF81750,BAF83879,AAH07894,AAH08894,AAH09998,AAH12774,AAH12793,AAH13279,AAH14076,AAH14274,AAH32106 Hs.469331 GDB:11507959 GTT1 protein-coding 1351860 STARD8 StAR-related lipid transfer (START) domain containing 8 1580863 17976533,17517630,17297465,16685650,15772651,15489334,12477932,8724849 9754 NM_014725,AL360076,AL732324,CH471132,AK291747,BC035587,CR749411,D80011 NP_055540,CAI41586,EAX05374,EAX05375,BAF84436,AAH35587,CAH18253,BAA11506,Q92502,ABM81843 Hs.95140 GDB:9785102 DKFZp686H1668|DLC3|KIAA0189|STARTGAP3 protein-coding 1349851 STARD9 StAR-related lipid transfer (START) domain containing 9 12477932,10718198,7633422 57519 XM_001129482,XM_001129290,XM_001717505,AC018362,AC090510,Z47043,Z47044,AB037721,AL133579,CR622393,CR749416,CR936665 XP_001129482,XP_001129290,XP_001717557,CAA87105,BAA92538,CAB63725,CAH18258,Q15885,Q9H6S2,Q9P2P6 Hs.122061 GDB:11510223 DKFZp781J069|FLJ16106|FLJ21936|KIAA1300 protein-coding 1353402 STARP1 steroidogenic acute regulatory protein pseudogene 1 7761400 6771 NG_002464,AL139088,U29106 GDB:635459 STARD1P1 pseudo 732184 STAT1 signal transducer and activator of transcription 1, 91kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. 1600091,1600092,1582346,1600087,1600090,1600103,1600105,1625126,1580863,1357935,2291893,2291895,2291900,2291905,2291892,2291894,2290484 16236267,16223733,16195225,16189514,16148142,16148108,16077199,15998520,15996661,15979846,15919942,15825084,15824515,15795279,15784679,15780933,15778351,15703780,15650219,15604419,15527154,15494521,15489334,15467722,15322115,15284024,15280488,15221897,15217838,15213094,15210729,15165826,15146197,15140960,15123634,15055356,15010467,14976049,14963018,14755057,14751560,14746803,14702039,14690454,14688135,14674010,14657353,14656722,14654702,14654078,14623896,14600148,14599788,14557668,14500749,12967644,12963127,12948935,12923054,12917439,12867595,12856330,12855578,12855573,12846741,12832402,12817007,12807916,12804771,12788789,12777975,12759242,12748293,12734330,12722480,12637327,12634403,12629155,12610144,12590259,12551969,12539042,12477932,12459177,12447867,12426389,12388709,12356736,12270932,12232802,12232043,12223098,12191570,12171910,12167251,12165521,12161037,12138178,12130529,12070153,12048190,12039028,11981818,11972023,11932384,11927559,11909970,11909852,11886859,11843291,11839738,11835405,11815625,11804954,11777927,11752148,11722592,11452125,11442634,11418623,11301323,16257975,16254375,11294897,11278865,11278462,11257227,11248027,11238845,11226159,11152457,10982844,10961983,10954736,10918587,10848598,10805787,10792030,10764778,10702714,10652206,10602027,10506573,10490649,10446176,10358045,10067896,9989503,9925928,9880553,9843502,9804857,9724754,9584171,9484840,9452495,9373245,9373149,9355737,9344858,9284918,9205132,9135145,9069288,8986769,8943351,8889548,8631962,8621447,8549654,8232552,8125298,7885841,7690989,7657660,7543024,7514165,1502203,1496401,16703666,15638726,11675348,10464260,12960323,17353931,14499622,11520787,10964507,8608597,16306601,10820245,10848577,10692450,10973496,9630226,18381204,18370868,18338947,18225539,18062835,18035482,18003888,17986321,17983380,17938255,17928350,17918184,17909067,17897103,17878351,17804871,17762898,17726060,17686504,17680769,17640695,17617740,17596301,17561467,17538964,17523873,17490620,17486072,17442890,17427945,17386941,17371985,17346710,17287281,17266440,17237409,17227821,17182865,17145596,17075845,17030574,16978698,16951379,16940534,16935931,16934001,16918696,16904741,16897667,16878149,16799645,16773129,16628196,16585190,16574066,16572323,16571725,16512786,16511123,16501077,16481475,16467883,16388135,16344560,16318585,16260419 1600091,1600092,1582346,1600087,1600090,1600103,1600105,1625126,1357935,2291893,2291895,2291900,2291905,2291892,2291894,2290484 6772 NM_007315,NM_139266,AC067945,AF182311,AY366464,AY865620,CH471058,U18662,U18663,U18664,U18665,U18666,U18667,U18668,U18669,U18670,AI992149,AK096686,AK225853,AK292604,AK315002,BC002704,BG699050,BT007241,BU738296,BX400908,CN410740,CR601119,CR618286,CR749636,CR998778,DA313984,EB385742,M97935,M97936 NP_009330,NP_644671,AAY24183,AAR13284,AAW56072,EAX10850,EAX10851,EAX10852,EAX10853,EAX10854,EAX10855,BAF85293,BAG37497,AAH02704,AAP35905,CAH18430,AAB64012,P42224,Q53XW4,Q67C41,Q68D00,Q9UDL5 Hs.642990,Hs.708051 GDB:682055 DKFZp686B04100|ISGF-3|STAT91 signal transducer and activator of transcription 1 1643406 BMD6_H protein-coding 1323217 STAT2 signal transducer and activator of transcription 2, 113kDa The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. 1625126,1580863,1357935 9020188,17923090,18370868,18338947,17538964,17442890,16978698,16918696,16689942,16501077,16227264,15717316,15668228,15650219,15489334,15221897,15175343,15165826,14722125,14702039,14645718,14557668,12804771,12777975,12610111,12509459,12477932,12388709,12244326,12220192,12167251,12050355,12048190,12039028,11932384,11804954,11786546,11564163,11150296,10702714,10506573,10490982,10464260,10446176,9804758,9242679,9121453,8848048,8621447,8605877,8605876,8601453,7885841,7746328,7559568,1502204,8943351,15467722 1625126,1357935 6773 NM_005419,AC025574,AY525126,CH471054,S81491,U18671,AK094039,BC006092,BC051284,BX640607,CD684210,CR621797,M97934 NP_005410,AAS00091,EAW96934,EAW96935,EAW96936,EAW96937,AAB36225,AAB36226,AAB36227,AAA98760,AAH06092,AAH51284,CAE45713,P52630,Q6LD48,Q6N0A7,Q9UDL4 Hs.530595 GDB:554826 ISGF-3|MGC59816|P113|STAT113 protein-coding 737517 STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Three alternatively spliced transcript variants encoding distinct isoforms have been described. 1625125,1600611,1625126,1580863,1357935,2291910,1643476,2291916,2291917,2291915,2291931,2291921,2291908,2291911,2291913,2291912,2291914 16407171,16382134,16381901,16377083,16331268,16285960,16278387,16236267,16236134,16192633,16174774,16142329,16140268,16125646,16107692,16098628,16082218,16081048,16061651,16061629,16036105,16007214,15994929,15979846,15958548,15951569,15950906,15944400,15936715,15935090,15923602,15917293,15912144,15905571,15895073,15894558,15882975,15878791,15870198,15845643,15837065,15809078,15764709,15736426,15735721,15735720,15735682,15703780,15688010,15682485,15677474,15673499,15665295,15653507,15650183,15649887,15643501,15629435,15615703,15604419,15592455,15590419,15588985,15575898,15530426,15489336,17875724,17869487,17855663,17855361,17824789,17764814,17726064,17726017,17720094,17716862,17702747,17700521,17689208,17686614,17676033,17671686,17670892,17668881,17640230,17639043,17636079,17636030,17634553,17616678,17603019,17602083,17597020,17572495,17545518,17543500,17543278,17533050,17531096,17525530,17519976,17463090,17460772,17459060,17438134,17404258,17379849,17376889,17374439,17360477,17344214,17341659,17341611,17318196,17311011,17289576,17276988,17241887,17220301,17209045,17204573,17203226,17194701,17182572,17151100,17145757,17142261,17078813,17015686,17012261,17880940,17875759,17008315,16984731,16959370,16951221,16948814,16946298,16935931,15489334,15485908,15476590,15474458,15465816,15378007,15336564,15297310,15286705,15284113,15277698,15254691,15242774,15229229,15223310,15207733,15198092,15194868,15194700,15184909,15165826,15163742,15162527,15161657,15156153,15150111,15145953,15143062,15141228,15077160,15070700,15064716,15034082,15007380,14966128,14963038,14737107,14736711,14715258,14715251,14712222,14702039,14701810,14688368,14674010,14672334,14647442,14593105,14551213,14522952,14515142,12969979,12963127,12960275,12947115,12900415,12873986,12867595,12865943,12865928,12846741,12833138,12832402,12821944,12804609,12789269,12782602,12777975,12763138,12748293,12743296,12738762,12707028,12670499,12640143,12637586,12637318,12629515,12629155,12628925,12626508,12623850,12615922,12600988,12576423,12562765,12559950,16926159,16904741,16887796,16877361,16871275,16861352,16841088,16840717,16835372,16828865,16825495,16807407,16732314,16709613,16685378,16651533,16636048,16619044,16571725,16568091,16557588,16524883,16512876,16503733,16432158,16425286,7512451,8675499,15664994,9670957,10205054,12444102,18451776,18438405,18320073,18307254,18242580,18239666,18204781,18200666,18198175,18192275,18192274,18189193,18184402,18172861,18172037,18171991,18160665,18097150,18096869,18079966,18060032,18058821,18047677,18024479,18024124,17975158,17971300,17967179,17961551,17959148,17956865,17951530,17938255,17920763,17918184,17911267,17911113,17895321,17888401,17881745,12556536,12555068,12551922,12547716,12545153,12540842,12531804,12506013,12477932,12466961,12444174,12426389,12396456,12393476,12389630,12361954,12359225,12244095,12235142,12208879,12193474,12168776,12105218,12070153,12067972,12061840,12060494,12057007,12039028,12023369,11987152,11960372,11959895,11940572,11940567,11929748,11923478,11882364,11872739,11861839,11861277,11859072,11856732,11853668,11843291,11827956,11815625,11809683,11773079,11751994,11751884,11739197,11722592,11594781,11585385,11536047,11470914,11463827,11438698,11429412,11418668,11350938,11335711,11294897,11279133,11171987,11163768,11134330,11076863,11021801,10982829,10954736,10925297,10918587,10878010,10875894,10825200,10809230,10764767,10688651,10602027,10570284,10521505,10506573,10490649,10464281,10458605,10446219,10037026,9989503,9923604,9917912,9872331,9864141,9714332,9647732,9630560,9584171,9566874,9484840,9440692,9398404,9388192,9373245,9343414,9211920,9162009,8923468,8921406,8889548,8657134,8631962,8626489,8626374,8608603,8272872,7719938,7701321,7624343,3031469,17151125,12775419,12089333,17077296,15638726,16260903,15343382,11328823,11239394,16189514,12824284,11322786 1625125,1600611,1625126,1357935,2291910,1643476,2291916,2291917,2291915,2291931,2291921,2291908,2291911,2291913,2291912,2291914 6774 BC029783,BC067119,BC107775,BI461226,CB216860,CB321646,CF454565,L29277,NM_003150,NM_213662,NG_007370,AC087691,AC107993,AF332508,AY572796,CH471152,AF029311,AI631896,AJ012463,AK024535,NM_139276,AK092965,AK291933,BC000627,BC008044,BC014482 AAH14482,AAH29783,AAA58374,P40763,Q8N2X9,Q9BXH2,CAL37986,ABZ92186,NP_644805,NP_003141,NP_998827,AAK17196,AAS66986,EAW60820,EAW60821,EAW60822,EAW60823,EAW60824,EAW60825,EAW60826,EAW60827,AAB84254,CAA10032,BAF84622,AAH00627 Hs.463059 GDB:358950 APRF|FLJ20882|MGC16063 signal transducer and activator of transcription 3 protein-coding 1313964 STAT4 signal transducer and activator of transcription 4 The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. 1625126,1580863,1357935 9989503,9284918,18434327,18432273,18273036,18204446,17932559,17804842,17762898,17532201,17095088,17046972,16301617,16081070,15744455,15637551,15489334,15087447,14660657,12805384,12716907,12615922,12496413,12477932,12426389,12372421,12039028,11801649,11397944,10961885,10779770,10415122,9890938,9630226,8700208,8007943,7638186,16189514 1625126,1357935 6775 NM_003151,AC067945,AC079777,AF423072,CH471058,BC016694,BC031212,BF966132,L78440,AB209043 NP_003142,AAY24184,AAY15055,AAL12164,EAX10846,EAX10847,EAX10848,EAX10849,AAH31212,AAB05605,Q14765,Q53RU2,Q53S87,Q59GR6,BAD92280,ABM82474,ABM85662 Hs.80642 GDB:682054 protein-coding 737523 STAT5A signal transducer and activator of transcription 5A The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for the tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. 1624963,1625126,1580863,1357935,2291932,2291927,2291930 11485409,16289657,15735688,10594041,14726409,14696092,14645506,14637146,14597631,12954634,12901872,12847485,16804404,12477932,12459499,12456798,12393707,12377952,12237455,12208876,12198240,12193575,12091337,12060651,12039059,12039028,11997457,11973644,11923474,11867689,11861304,11779872,11773439,11756417,11726519,11722592,11682624,11440634,11418668,11418623,11413148,11167825,11158330,11097834,11030348,10996427,10825200,10652277,10617656,10602027,10570284,10428030,10358079,10358045,10194762,10037796,10037026,9989503,9880255,9837784,9575217,9528750,9484840,9398404,9373245,9122188,9047382,8977232,8878484,8732682,8702683,8617237,7925280,7719938,12605694,16819511,7719937,8631883,18271926,18172316,18063684,18023521,17938255,17922009,17913706,17867599,17846080,17726024,17666591,17639043,17438530,17376889,17330131,17220171,17214852,17169805,17128418,17081983,17038539,17015686,16973758,16954437,16840779,16729043,16684963,16572323,16532027,16502315,16476059,16455947,16407271,16303247,16189514,16133357,16115927,15795318,15677474,15652752,15611091,15592524,15588985,15534001,15489334,15358227,15353555,15313458,15304355,15169792,15128421,15063762,15048088,15010467,14726487 1624963,1625126,1357935,2291932,2291927,2291930 6776 NG_007370,NM_003152,AC087691,AC099811,AJ412878,CH471152,CQ815789,AB208972,AK291650,BC027036,CR597393,DQ471288,L41142,U43185 NP_003143,CAD19637,EAW60819,CAG32953,BAD92209,BAF84339,AAH27036,ABF17939,AAA73962,AAB06589,P42229,Q1KLZ6,Q59GY7,Q8WWS9,ABM82649,ABM85826 Hs.437058 GDB:682338 MGF|STAT5 protein-coding 730906 STAT5B signal transducer and activator of transcription 5B The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. 1625124,1601380,1625126,1580863,1601383,1624963,2291935,2291940,2291933 16303763,16169484,16155412,16115927,15944278,15677474,15611091,15591245,15588985,15489334,15128421,15105428,15067053,15010467,14726487,14726409,14662325,14645506,14583472,13679528,12954634,12901872,12847485,12642867,12621061,12538627,12477932,12456798,12429742,12377952,12237455,12198240,12193575,12167251,12145702,12089361,12039059,12039028,12036885,11929749,11929748,11923474,16464942,11867689,18197699,18172316,17997837,17881646,17822672,17726024,17652536,17639043,17630355,17546465,17509524,17471233,17438530,17389811,17148664,16964243,16920911,16887981,16840779,16772534,16765629,16729043,16584384,16502315,16476059,9989503,8631883,18285272,10652277,10617656,10602027,10558875,10506573,10441338,10358045,9880255,9845531,9813029,9804779,9528750,9484840,9428692,9398404,9211920,9122188,8977232,8923468,8878484,8732682,8702476,7719938,12605694,11485409,16289657,10594041,11751923,11773439,11726519,11562369,11440634,11158330,11097834,11030348,10996427,10954736,10830280,10815800,10720694 1625124,1601380,1625126,1601383,1624963,2291935,2291940,2291933 6777 NM_012448,NG_007271,AC099811,AJ412888,CH471152,CQ815791,AB208920,AL040162,AL080218,BC020868,BC029072,BC065227,U47686,U48730 NP_036580,CAD19638,EAW60817,CAG32954,BAD92157,AAH20868,AAH65227,AAC50491,AAC50485,P51692,Q59H39,Q8WW55,ABZ92030 Hs.632256 GDB:5772854 STAT5 protein-coding 1319194 STAT6 signal transducer and activator of transcription 6, interleukin-4 induced The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. 1625126,1580863,1357935 9989503,10747856,18294957,18191727,17883727,17705178,17652621,17606441,17541284,17532201,17433443,17371990,17362266,17237818,17213269,17210636,17121586,17074026,16951379,16877367,16867043,16810739,16681592,16601843,16547812,16387423,16103897,16084752,16004996,15888279,15793005,15733066,15695802,15687724,15661890,15637551,15528258,15526032,15522309,15489334,15342695,15297269,15199062,15105161,15069079,15044251,15004182,14757047,14746803,14735150,14719123,14634100,14519766,12935900,12900808,12794133,12791978,12759487,12689929,12651067,12605697,12477932,12459556,12426308,12234934,12161424,12138096,12082548,12058257,12039028,12023955,11944890,11912176,11872954,11692112,11574547,11532018,11509556,11369758,11032724,10856136,10601358,10490982,10490661,10454341,9782085,9712049,9605853,9584180,8810328,8602264,8602263,8085155,17151125,8816495 1625126,1357935 6778 U66574,AB103088,AB103089,AK290431,AK291044,AY615283,BC004973,BC005823,BC075852,BQ028928,BT007380,CR606877,U16031,AF417842,AF067575,NM_003153,AC023237,AF067572,AF067573,AF067574 AAL06595,AAC51204,BAD89431,BAD89432,BAF83120,BAF83733,AAU04439,AAH75852,AAP36044,AAA57193,P42226,Q56TK0,Q5FBW6,Q6LCD8,Q9BQD2,NP_003144,AAC67525 Hs.524518 GDB:386593 D12S1644|IL-4-STAT|STAT6B|STAT6C protein-coding 1352585 STATH statherin 1580863 1718282,1741693,1313424,15769251,15489334,12477932,12444093,12060866,10831095,10748043,10728974,9109822,9048421,7876428,3502720,3476566,3426601,2483725,2373369,1747107,838735 6779 M32639,BC067219,BX649104,CB958641,CB986973,M18078,M18371,NM_003154,NM_001009181,AC063956,CH471057 EAX05603,EAX05604,EAX05605,AAA60593,AAH67219,AAA60594,AAA60600,P02808,NP_003145,NP_001009181 Hs.654495 GDB:120391 STR protein-coding 734025 STAU1 staufen, RNA binding protein, homolog 1 (Drosophila) Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. 1580863 10022909,15303970,15680326,18094122,17510634,17428849,15489334,15231748,15121898,15024055,14702039,12843282,12477932,12388589,12147688,12133005,12065664,11780052,11230166,10823848,10707969,10325410,10022908,8884277 6780 NM_017452,NM_017453,NM_001037328,NM_004602,AL133174,CH471077,AB209561,NM_017454,AF061938,AF061939,AF061940,AF061941,AJ132258,AK025519,AK057739,AK091405,AK291487,AK292859,AL136601,AY529074,AY546099,BC000830,BC001893,BC007532,BC010169,BC050432,BC095397 NP_059348,NP_059346,NP_059347,NP_001032405,NP_004593,CAC14084,CAC14085,CAI42819,CAI42820,CAI42821,CAI42822,EAW75669,EAW75670,EAW75671,EAW75672,EAW75673,EAW75674,AAD17530,AAD17531,AAD17532,AAD17533,CAB40082,BAF84176,BAF85548,CAB66536,AAS76636,AAS76637,AAH10169,AAH50432,BAD92798,O95793,Q59F99,Q5JW28,Q5JW29,Q5JW30,Q6PJX3,AAH95397 Hs.596704 GDB:1211178 FLJ25010|STAU staufen (drosophila, rna-binding protein) protein-coding 1351558 STAU2 staufen, RNA binding protein, homolog 2 (Drosophila) Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. 1580863 10585778,18094122,16964243,15489334,14702039,12477932,12140260,10707969,15024055 27067 AB210014,AF459097,AF459098,AK001576,AK002152,AK023314,AK290141,AL079285,AL079286,AL079288,BC008369,BC008370,BC110447,AC027018,AC100784,CH471068,NM_014393,BC110448,CR618603,CR627442,Y19062 EAW87006,EAW87007,BAE06096,AAN37926,AAN37927,BAA91766,BAA92111,BAB14522,BAF82830,AAH08369,AAH08370,AAI10448,EAW87003,EAW87004,NP_055208,EAW87005,CAH10527,CAB64341,Q2TBD5,Q4LE57,Q9NUL3,ABM87331,ABW03874 Hs.561815 GDB:10795946 39K2|39K3|DKFZp781K0371|MGC119606 protein-coding 1604058 STBD1 starch binding domain 1 9794794,16303743,15489334,15231748,14702039,12477932,8828038 8987 NM_003943,AC034139,CH471057,AF062534,AK002155,AK074635,AK090914,AK092277,AK123795,BC022301,CR594152 NP_003934,EAX05782,EAX05783,EAX05784,EAX05785,EAX05786,EAX05787,AAC78827,BAC11103,AAH22301,O95210,Q8N2K7,ABM82900,ABM86091 Hs.109590 FLJ41801|GENEX3414|GENX-3414 protein-coding 730961 STC1 stanniocalcin 1 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. 1580863 18309109,18164591,17457011,17395153,17272771,17032941,16377640,16109785,15489334,15383693,15340161,15149855,15131261,15062564,14503913,14500721,12663264,12477932,12406069,12223480,11861508,10947959,10725397,9794484,9708804,9480753,7892193,7489828,1458489,8700837 6781 NM_003155,AC012119,AF098463,AF242179,CH471080,BC029044,S50179,S50184,U25997,U46768 NP_003146,AAC97949,AAL79522,EAW63610,AAH29044,AAC09472,AAA88903,P52823,Q71UE5,ABM81739,ABM84894 Hs.25590 GDB:5484598 STC protein-coding 1352877 STC2 stanniocalcin 2 This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. 1580863 9723890,9753616,17909264,17545519,16303743,16169070,15489334,15486227,15367391,15302935,14702039,12477932,10947959,10450831,10022771 8614 AF031036,AF055460,AF098462,AK027390,AK027663,AK075406,AK095862,AK095891,BC000658,BC006352,BC013958,BQ181336,BT019591,CR541825,CR595844,CR597612,NM_003714,AC106731,CH471062,CS070234,AB012664 AAD01922,AAC27036,AAC97948,AAH00658,AAH06352,AAH13958,AAV38398,CAG46624,O76061,Q6FHC9,NP_003705,CAI93195,BAA33489,EAW61399,EAW61400,EAW61401 Hs.233160 GDB:9956032 STC-2|STCRP protein-coding 735529 STCH stress 70 protein chaperone, microsome-associated, 60kDa The protein encoded by this gene is a member of the heat shock protein 70 family and is found associated with microsomes. Members of this protein family play a role in the processing of cytosolic and secretory proteins, as well as in the removal of denatured or incorrectly-folded proteins. The encoded protein contains an ATPase domain and has been shown to associate with a ubiquitin-like protein. 1580863 16087163,15489334,14702039,12477932,12107410,11319647,10830953,10675567,9373149,8889549,8889548,8825657,8125298,16189514,8131751 6782 NM_006948,AF130249,AL163206,CH471079,AA018751,AA767266,AI912654,AK128540,AK223282,BC017580,BC036370,BE467288,BI548162,CA392315,CF141775,CR603870,U04735 NP_008879,AAD21091,CAB90390,EAX10055,EAX10056,EAX10057,BAD97002,AAH36370,AAA16954,P48723,Q53FK2 Hs.352341 GDB:358960 protein-coding 1323057 STEAP1 six transmembrane epithelial antigen of the prostate 1 This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. 1580863 10588738,15958640,15489334,12853948,12690205,12477932,12095985,11479226,9847074 26872 NM_012449,XM_001131341,AC004969,AC005053,CH236949,CH471073,CS283329,AF186249,BC011802,BI549469 NP_036581,XP_001131341,AAD15620,EAL24166,EAL24167,EAW93749,EAW93750,EAW93751,EAW93752,CAJ90613,AAF17479,AAH11802,Q9UHE8 Hs.61635 GDB:10795853 MGC19484|PRSS24|STEAP|steap six transmembrane epithelial antigen of the prostate protein-coding 1316015 STEAP2 six transmembrane epithelial antigen of the prostate 2 This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 61503,1580863 12095985,17567994,16609065,15897894,15623366,14702039,12975309,12429817,10613842 61503 261729 AF455138,AF526382,AK026813,AK092666,AK094568,AY008443,AY008444,AY358267,DQ656061,DQ656062,DR005432,NM_152999,NM_001040665,NM_001040666,AC002064,CH236949,CH471091 EAW76890,EAW76891,EAW76892,EAW76893,EAW76894,AAN04080,AAQ08976,AAG32147,AAG32148,AAQ88634,Q6YPB1,Q6YPB2,NP_694544,NP_001035755,NP_001035756,EAL24165,EAW76889,Q8NFT2,AAI46342,AAI48825 Hs.489051 GDB:11510225 IPCA1|PCANAP1|PUMPCn|STAMP1|STMP protein-coding 1605372 STEAP3 STEAP family member 3 16381901,15489336,15319436,14702039,12606722,12477932,12095985,11230166,11076863 55240 AK024163,AK291608,AL833624,AY029585,AY082673,AY214461,BC042150,BC095421,BM146930,BX538047,CR596003,CR614870,AK001691,NM_182915,NM_018234,NM_001008410,AC016673,AC016736,CH471103,AF238864,AF262322,AF423424 BAA91839,BAB14842,BAF84297,CAH56204,AAK50538,AAM45136,AAO38238,AAH42150,AAH95421,CAD97986,Q0JVN9,Q658P3,Q9H7Y1,CAL37421,NP_878919,NP_060704,NP_001008410,AAX88963,AAY14872,EAW95209,EAW95210,EAW95211,EAW95212,AAL78206,AAM08128,AAQ04065 Hs.647822 STMP3|TSAP6|dudlin-2 protein-coding 1347045 STEAP4 STEAP family member 4 1580863 16344560,15897894,12477932,11443137 79689 CR601647,DA977808,BC020600,NM_024636,AC003991,CH236949,CH471091,CS237169,CS283337,CS300631,AF423422,AF423423,AK026806,AK027807,AL832955,AL833044,AL833671 AAH20600,Q687X5,NP_078912,EAW76906,EAW76907,CAJ55791,CAJ90615,CAK32295,AAQ04063,AAQ04064,BAB15559,CAH56271 Hs.521008 DKFZp666D049|FLJ23153|STAMP2|TIARP|TNFAIP9 protein-coding 1346905 STGD4 Stargardt disease 4 (autosomal dominant) 10205271 9634 GDB:9957846 1604195 STH saitohin 18307033,18300012,16909000,16603077,16186110,15474313,15136700,12932819,12913211,12826738,12826737,12477932,12447938,12402275,12032355,7566098 246744 NM_001007532,NG_007398,AC010792,AC091628,AY179170,BC130319,BC130321 NP_001007533,AAO03577,AAI30320,AAI30322,Q8IWL8 Hs.661831 MAPTIT|MGC163191|MGC163193 protein-coding 1312720 STIL SCL/TAL1 interrupting locus This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 8825637,18187418,17576815,17460775,17456584,16710414,16344560,16024801,15489334,14504110,12681356,15107824,12531481,12477932,12438740,12199779,11390401,10657125,9372240,8321044,2255914,2209547,2040693,1922059,1311214 6491 NM_001048166,NM_003035,AF349657,AF415166,AJ131016,AL135960,AL513322,CH471059,M74442,S63470,S63471,X57515,Y07540,Y07541,AA897748,AK098445,AK128406,BC053615,BC126223,CR749851,DA754072,DB062487,M74558 NP_001041631,NP_003026,AAK51418,CAI19730,CAI19731,CAI19732,CAI19733,CAI13463,CAI13464,CAI13465,CAI13466,CAI13467,CAI13468,EAX06872,EAX06873,EAX06874,AAH53615,AAI26224,CAH18699,AAA60550,Q15468,Q5T0C6,Q5T0C7,Q5T0C9,Q5T0D0,Q7Z626 Hs.525198 GDB:5875353 DKFZp686O09161|SIL protein-coding 1315668 STIM1 stromal interaction molecule 1 This gene encodes a type 1 transmembrane protein of unknown function. It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of this gene situated 1.6 kb from the 5' end of the RRM1 gene. 1580863 16005298,11463338,16208375,18250319,18249114,18190941,18187424,18166150,17925382,17702753,17684017,17517596,17486119,17360414,17299780,17298947,17283081,17224452,17218358,17158173,17081983,17045966,17020874,16987424,16966422,16906149,16870612,16860747,16807233,16766533,16733527,16537481,16263699,15866891,14582397,12754519,12477932,11983428,11004585,10575208,9377559,8921403,8707854 6786 NM_003156,AC015689,AC087441,AC090804,AC107970,CH471158,CQ834768,BC021300,U52426 NP_003147,EAX02580,EAX02581,CAH05599,AAH21300,AAC51627,Q13586,Q8N382,ABM86435,ABW03792 Hs.501735 GDB:5842957 D11S4896E|GOK protein-coding 1312198 STIM2 stromal interaction molecule 2 This gene is a member of the stromal interaction molecule (STIM) family and likely arose, with related family member STIM1, from a common ancestral gene. It encodes a type 1 transmembrane protein whose function is currently unknown, but is a likely adhesion molecule with a role in early hematopoiesis. Alternative translation initiation from an AUG and a non-AUG (UUG) start site results in the production of two different isoforms. 1580863 11463338,16860747,18160041,17905723,16005298,15489334,15231748,14702039,12477932,11230166,10819331,8889548 57620 BU741823,BX343313,NM_020860,AC006928,AC106047,CH471069,AB040915,AF328905,AK023369,AK096846,AL136577,BC015659,BC043604,BC057231,BC146661,BC152554 Q05BJ5,Q9P246,NP_065911,EAW92853,EAW92854,EAW92855,BAA96006,AAK82337,BAB14545,CAB66512,AAH15659,AAH43604,AAH57231,AAI46662,AAI52555 Hs.135763 GDB:11510598 FLJ39527|KIAA1482 protein-coding 733337 STIP1 stress-induced-phosphoprotein 1 (Hsp70/Hsp90-organizing protein) 1580863 1569099,16130169,18095154,17886292,17081983,16916647,16344560,16236267,15632128,15592455,15489334,14754904,14532270,12477932,12437126,12161444,12093732,11877417,11809754,10786835,10508479,9727490,9373149,9261129,9148915,8889548,8125298,1286667,12887926,17353931,16189514 10963 CR536512,NM_006819,AP005668,CH471076,AK225736,AK291555,BC002987,BC039299,BM679538,BT020010,BT020011,DA781468,M86752 AAV38814,CAG38750,NP_006810,EAW74196,EAW74197,EAW74198,BAF84244,AAH02987,AAH39299,AAV38813,AAA58682,P31948,Q3ZCU9,Q5TZU9,ABM84221,ABW03547 Hs.337295 GDB:9958657 HOP|IEF-SSP-3521|P60|STI1|STI1L protein-coding 733000 STK10 serine/threonine kinase 10 This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. 1580863 9278426,16964243,16344560,16175573,15302935,14702039,12639966,12477932,11903060,10199912,17192257 6793 NM_005990,AC024561,AC092271,AC113342,CH471062,AB015718,AF119894,AI584023,AK022960,AK092814,AL133081,BC014413,BC070077,BI459912,CR607624,DA507768,DB068209 NP_005981,EAW61439,BAA35073,AAF69648,CAB61400,AAH14413,AAH70077,O94804,Q6NSK0,Q9P153 Hs.519756 GDB:9754129 LOK|PRO2729 protein-coding 1318548 STK11 serine/threonine kinase 11 This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. 1580863,1600678,1600691,1601389,2291943,2291945,2291947,2291944,2291948,1601391 12805220,12595760,14676191,17216128,18245474,18199157,17950019,17928927,17921699,17766436,17711506,17676035,17641416,17637250,17599048,17575127,17573348,17384680,17344591,17319781,17244606,17234589,17212587,17114342,17108107,17098823,17026623,17010524,16953221,16927138,16912160,16882735,16822578,16648371,16582077,16580634,16540748,16407837,16407220,16396636,16311241,16287113,15987703,15800014,15774015,15733851,15731909,15617552,15608654,15607222,15561763,15489334,15485651,15331174,15292028,15287029,15231735,15188174,15183188,15121768,15077168,14985505,14976552,14702039,12097271,12094239,11853558,11741830,11733352,11668633,11445556,11430832,11297520,10642527,10508479,10408777,10362809,10208439,9837816,9760200,9537235,9428765,9425897,8988175,8889548,16189514,14668798,14517248,14517247,14511408,14511394,12912948,12879020,12847291,12552571,12533684,12489981,12477932,12234250,12218179 1600678,1600691,1601389,2291943,2291945,2291947,2291944,2291948,1601391 6794 NG_007460,AC004221,AC011544,AF032986,AF055327,CH471139,AB209553,AF035625,AF217978,AJ844634,NM_000455,AK128518,BC007981,BC019334,BM993274,BQ222023,BU174122,BU739451,EF644172,U63333 NP_000446,AAF97257,AAB97833,AAC15742,EAW69538,EAW69539,EAW69540,BAD92790,AAC39527,AAG17221,CAH59749,AAH07981,AAH19334,ABR45718,AAB05809,Q15831,Q59FA7,Q5ZEZ1,Q9HBS3,Q9NS52,ABM84158,ABM87560 Hs.515005 GDB:9732383 LKB1|PJS serine/threonine kinase 11 (peutz-jeghers syndrome) protein-coding 1312841 STK11IP serine/threonine kinase 11 interacting protein 17521700,14702039,12477932,11741830,11572484,16189514 114790 NM_052902,AC009955,CH471063,AB067485,AF450267,AK091963,BC014114,BC034051 NP_443134,EAW70775,EAW70776,BAB67791,AAL49726,BAC03778,AAH14114,AAH34051,Q8N1F8,ABM81846,ABM84997 Hs.22410 GDB:11510384 KIAA1898|LIP1|LKB1IP|STK11IP1 protein-coding 1342506 STK16 serine/threonine kinase 16 1580863 17353931,9712705,16310770,15489334,15146197,14702039,12477932,11741987,10947953,10364453,9373149,8125298,16189514 8576 NM_003691,AC068946,CH471063,AA741170,AB020739,AF060798,AF203910,AJ005791,AJ010872,AK096954,AK225392,AK225526,AK292694,AL552406,AL565684,BC002618,BC053998,BT019585,CB111662,CN268850,NM_001008910,CR407675,CR598797,CR603103,CR618001,CR618122,CR622571,CR623144 NP_001008910,NP_003682,EAW70714,EAW70715,EAW70716,EAW70717,BAB16311,AAC28337,AAG23728,CAA06700,CAA09387,BAF85383,AAH02618,AAH53998,AAV38392,CAG28603,O75716,Q5U0F8,Q9BUH4 Hs.153003 GDB:9955687 FLJ39635|KRCT|MPSK|PKL12|TSF1 protein-coding 1346790 STK16P serine/threonine kinase 16 pseudogene 326107 NG_002530,AL591767 pseudo 1342550 STK17A serine/threonine kinase 17a This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. 1580863 9786912,15489334,14702039,12853948,12690205,12477932 9263 NM_004760,AC005189,AC011738,AC093645,CH236951,CH471073,AB011420,AK097170,AW183478,BC023508,BC047696,BI461892,CR597510,CR599395,CR623604 NP_004751,AAS02010,AAP22356,EAL24008,EAW94162,EAW94163,EAW94164,BAA34126,AAH23508,AAH47696,Q75MK4,Q86UI9,Q9NZ11,Q9UEE5 Hs.706869 GDB:9955564 DRAK1 serine/threonine kinase 17a (apoptosis-inducing) protein-coding 732463 STK17B serine/threonine kinase 17b 1580863 9786912,17182616,15489334,12477932,11481038,16189514 9262 NM_004226,AC114760,CH471063,AB011421,BC016040,BC052561,CR542210,CR542225,CR593001,CR594594,CR607515 NP_004217,AAY14982,EAW70122,BAA34127,AAH16040,CAG47006,CAG47021,O94768,Q53QE7,Q6FG83,Q6FG98,ABM83182,ABM86384 Hs.88297 GDB:9955563 DRAK2 serine/threonine kinase 17b (apoptosis-inducing) protein-coding 1347475 STK19 serine/threonine kinase 19 This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. 1580863 14667819,9812991,15986447,14656967,14574404,12477932,9799600,8575831,8132574,8012361,1988494 8859 BX679671,CH471081,CR753822,CR753845,CR759782,L26261,U24578,X77474,BC016916,BC110347,BC121128,BC121129,CR602611,CR605584,L26260,X77386,NM_032454,NM_004197,NG_004658,NG_005163,NG_000013,AF019413,AL049547,AL645922,AL662849,AL844853 CAI41867,CAI41868,CAM26064,CAM26065,EAX03566,EAX03567,EAX03568,CAM26056,CAM26057,CAQ10913,CAQ10914,CAQ07123,CAQ07124,AAA20120,AAA99716,CAA54622,CAA54623,AAI10348,AAI21129,AAI21130,AAA20122,CAA54565,P49842,Q0VAC3,Q2YD87,Q5JP77,Q5JP78,Q5ST72,Q5ST73,Q5ST76,NP_115830,NP_004188,AAB67976,CAB89303,CAB89304,CAI41739,CAI41740,CAI17470 Hs.654371 GDB:9958863 D6S60|D6S60E|G11|HLA-RP1|MGC117388|RP1 protein-coding 1352725 STK19P serine/threonine kinase 19 pseudogene 8132574,2431902,1988494 373159 NG_004658,AL645922,L26262 RP2|bPG116M5.10 pseudo 1345827 STK24 serine/threonine kinase 24 (STE20 homolog, yeast) The yeast 'Sterile 20' gene (STE20) functions upstream of the mitogen-activated protein kinase (MAPK) cascade. In mammals, protein kinases related to STE20 can be divided into 2 subfamilies based on their structure and regulation. Members of the PAK subfamily (see PAK3; MIM 300142) contain a C-terminal catalytic domain and an N-terminal regulatory domain that has a CDC42 (MIM 116952)-binding domain. In contrast, members of the GCK subfamily (see MAP4K2; MIM 603166), also called the Sps1 subfamily, have an N-terminal catalytic domain and a C-terminal regulatory domain without a CDC42-binding domain. STK24 belongs to the GCK subfamily of STE20-like kinases (Zhou et al., 2000 [PubMed 10644707]).[supplied by OMIM] 1580863 9353338,17081983,17046825,16344560,16314523,16189514,15489334,15304321,12477932,12107159,11991713,10644707,17353931 8428 NM_003576,AL137249,AL356423,CH471085,AF024636,AF083420,AF339826,BC035578,BC065378,NM_001032296,BT019619,CR542227,CR594698,CR601729,CR607724,CR610999,CR615038,DA386652,DB479387 NP_001027467,NP_003567,CAI39452,CAI39453,CAI39455,CAI39456,CAI39457,EAX08985,EAX08986,EAX08987,AAB82560,AAD42039,AAH35578,AAH65378,AAV38425,CAG47023,Q5JV99,Q5T5B3,Q5T5B4,Q5U0E6,Q6FG81,Q6P0Y1,Q9Y6E0,ABM81838 Hs.508514 GDB:9955135 MST-3|MST3|MST3B|STE20|STK3 protein-coding 1342524 STK25 serine/threonine kinase 25 (STE20 homolog, yeast) 1302435,729618,1580863 15037601,8887545,17253963,16189514,15815621,15489334,14702039,12477932,9160885,17353931 1302435,729618 10494 BC091505,BT019961,CR614826,CR618964,CR621330,CR623111,D63780,X99325,CR936874,NM_006374,AC110299,CH471063,DQ093965,AK092161,AK291808,AK291947,BC007852,BC015793 AAH15793,AAH91505,AAV38764,BAA20420,CAA67700,O00506,Q5CZ67,Q96BA2,CAI59786,ABM84156,ABM87558,NP_006365,AAY14683,EAW71265,EAW71266,AAY88740,BAF84497,BAF84636,AAH07852 Hs.516807 GDB:11502026 DKFZp686J1430|SOK1|YSK1 protein-coding 732933 STK3 serine/threonine kinase 3 (STE20 homolog, yeast) Protein kinase activation is a frequent response of cells to treatment with growth factors, chemicals, heat shock, or apoptosis-inducing agents. This protein kinase activation presumably allows cells to resist unfavorable environmental conditions. The yeast 'sterile 20' (Ste20) kinase acts upstream of the mitogen-activated protein kinase (MAPK) cascade that is activated under a variety of stress conditions. MST2 was identified as a kinase that is activated by the proapoptotic agents straurosporine and FAS ligand (MIM 134638) (Taylor et al., 1996 [PubMed 8816758]; Lee et al., 2001 [PubMed 11278283]).[supplied by OMIM] 1580863 8566796,8816758,17889669,17538946,17081983,16930133,16510573,15688006,15618521,15489334,12554736,12477932,11964314,11278283,10840030,8816756,8274451,7665586,15075335 6788 NM_006281,AP002087,AP003355,AP003467,AP003551,CH471060,AK075229,AK131363,AK291837,BC010640,U26424,U60206,Z25422 NP_006272,EAW91781,BAC11487,BAF84526,AAH10640,AAC50386,AAB17261,CAA80909,Q13188,Q8NBU1 Hs.492333 GDB:9029985 FLJ90748|KRS1|MST2 protein-coding 1606534 STK31 serine/threonine kinase 31 This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. 16344560,14702039,12853948,12477932,11279525 56164 NM_032944,NM_001122833,AC003087,AC008176,CH236948,CH471073,AF285599,AF332194,AK057271,AK057430,AK131214,AK292474,BC033018,BC036476,BC047506,BC059374,DB065148,DB089624,DB095141,NM_031414 NP_113602,NP_116562,NP_001116305,AAS07416,EAL24249,EAL24250,EAW93805,EAW93806,AAK31978,AAK17193,BAB71405,BAB71483,BAF85163,AAH59374,Q0P660,Q6PCD3,Q75MZ9,Q96M30,Q96MA3,Q9BXU1 Hs.309767 GDB:10796634 FLJ16102|SGK396|TDRD8 protein-coding 1318050 STK32A serine/threonine kinase 32A 737633,1580863 16344560,15489334,15372022,14702039,12477932,12471243 737633 202374 NM_145001,NM_001112724,AC009189,AC011338,CH471062,AK094580,BC021666,DA110948,DA231845,DR006392,EB386256 NP_659438,NP_001106195,EAW61827,EAW61828,AAH21666,Q8WU08 Hs.585069 MGC22688|YANK1 protein-coding 1314640 STK32B serine/threonine kinase 32B 1302823 15489334,14702039,12975309,12477932,12471243,10700184,9847074 1302823 55351 NM_018401,AC004664,AC092665,AC096740,AC107395,CH471131,AJ250839,AK055597,AK292696,AL832436,AY358353,BC020281,BC024977,BC038238,BC069203 NP_060871,EAW82416,EAW82417,CAB76471,BAF85385,CAH10653,AAQ88719,AAH38238,Q69YP0,Q9NY57,ABM92171,ABM84640 Hs.133062 HSA250839|STK32|STKG6|YANK2 protein-coding 1314150 STK32C serine/threonine kinase 32C The protein encoded by this gene is a member of the serine/threonine protein kinase family. The specific function of this kinase is not known. 1580863 15489334,15164054,12477932,12471243 282974 NM_173575,AL451056,AL512622,AL590105,CH471066,AK057849,AK098366,AY098866,BC015792,BC045760,CR595271 NP_775846,CAI12181,CAI12187,CAI13011,EAW49126,EAW49127,EAW49128,EAW49129,AAM21719,AAH45760,Q86UX6 Hs.469002 MGC23665|PKE|RP11-140A10.1|YANK3 protein-coding 1315072 STK33 serine/threonine kinase 33 16176263,15489334,14702039,12477932,11738831,11528127 65975 NM_030906,AC104360,AC105357,AP006442,CH471064,AJ303380,AK092720,AK093251,AK122808,AL833011,BC031231,BG722074 NP_112168,EAW68623,EAW68624,EAW68625,CAC29064,BAC04109,CAH56302,AAH31231,Q9BYT3,ABM82443,ABW03415 Hs.501833 GDB:11507961 protein-coding 1321037 STK35 serine/threonine kinase 35 The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. 1580863 15761153,15489334,14702039,12477932,11973348,11780052 140901 NM_080836,AL359916,CH471133,AF195026,AK024394,AK026555,AL040176,BC017340,BC111573,CR599328,CR606731 NP_543026,CAI15590,EAX10603,AAL99353,AAH17340,AAI11574,Q8TDR2 Hs.100057 GDB:11507963 CLIK1 protein-coding 1316442 STK36 serine/threonine kinase 36, fused homolog (Drosophila) 10806483,15489334,15268766,14702039,12477932,10574462,12421765,9557739,17353931 27148 NM_015690,AC009974,CH471063,AB033104,AF200815,AK022692,AL133630,BC026158,CR595890 NP_056505,EAW70647,EAW70648,EAW70649,EAW70650,BAA86592,AAF97028,BAB14184,CAB63754,AAH26158,Q9NRP7,ABM82665,ABM85842 Hs.706917 GDB:11507965 DKFZp434N0223|FU|KIAA1278 protein-coding 1319806 STK38 serine/threonine kinase 38 1580863 12493777,15197186,7761441,17317633,16135814,15670829,15582665,15489334,15324660,15067004,14661952,14574404,12477932,9774336,9647638 11329 NM_007271,CH471081,CQ826789,Z85986,AF034188,BC012085,BC095413,CR592775,Z35102 NP_009202,EAX03894,EAX03895,EAX03896,CAG44584,CAB39180,AAD50530,AAH12085,AAH95413,CAA84485,Q15208,Q9UPD3 Hs.409578 GDB:696268 NDR|NDR1 protein-coding 1353936 STK38L serine/threonine kinase 38 like 1580863 15067004,15197186,15037617,16488889,16314523,15582665,15489334,15324660,12477932,12168954,10231032,17353931 23012 NM_015000,AC092827,AC092829,CH471094,CQ826791,AB023182,AK291055,BC014782,BC028603,CR602115,CR606717 NP_055815,EAW96549,EAW96550,EAW96551,CAG44599,BAA76809,BAF83744,AAH28603,Q9Y2H1,ABM82425,ABM85617 Hs.184523 GDB:9954688 KIAA0965|NDR2 protein-coding 734214 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. 727300,1580863 10980603,18348195,17321610,17081983,16964243,16950202,16669787,16263722,14702039,14563843,12740379,11514053 727300 27347 AC016723,AC017069,AC067940,BX648046,CH471058,DQ537524,AF017635,AF030403,AF099989,AK126343,AY629298,BC146813,BF516344,BX647113,NM_013233 NP_037365,AAY15003,AAY14897,AAY24032,EAX11304,ABG34553,AAB70552,AAD01901,AAC72238,AAT65492,Q53S90,Q53SL7,Q53SS1,Q6E0B2,Q9UEW8,AAI66614 Hs.276271 GDB:11507967 DCHT|DKFZp686K05124|PASK|SPAK protein-coding 1323808 STK4 serine/threonine kinase 4 The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and it's possible that this protein induces the chromatin condensation observed in this process. 1580863 8566796,11805089,16751106,8274451,15109305,7665586,8816758,17932490,17726016,17538946,17192257,16930133,16510573,15688006,15489334,15345747,15157167,12757711,12477932,12384512,12223493,11964314,11864565,11780052,11517310,11278782,11278283,9545236,9373149,8889548,8702870,8125298,2902784,1655021,15075335,12942774,16189514 6789 BM450795,BM455776,BM459914,BQ216721,BQ434275,BU153393,BU429479,BU633556,BU689980,BU902081,CR933633,T18610,U18297,U60207,Z25430,AL109839,CH471077,Z93016,AB209315,AK027088,AK225326,AL597960,BC005231,BC015332,BC029511,BC038850,BC039023,BC042861,BC058916,BC065215,NM_006282,BC093768 AAH93768,CAI45939,AAA83254,AAB17262,CAA80917,Q13043,Q15452,Q59FZ4,Q5H9T5,Q9BS84,NP_006273,CAI95633,CAI95634,EAW75882,EAW75883,CAB07508,CAI19815,BAD92552,AAH05231,AAH15332,AAH29511,AAH58916 Hs.472838 GDB:681184 DKFZp686A2068|KRS2|MST1|YSK3 protein-coding 1605028 STK40 serine/threonine kinase 40 16381901,15489336,15489334,14702039,13679039,12477932,11230166,11076863,16710414 83931 AC119675,AL591845,CH471059,NM_032017,CQ834750,AK000808,AK024504,AK075029,AK075048,AK131560,AL834137,AY198395,BC005169,BC007835,BC008344,CR599574,CR606169 NP_114406,CAH71862,CAH71863,CAH71864,EAX07368,EAX07369,EAX07370,EAX07371,EAX07372,EAX07373,CAH05590,BAB15794,BAC11361,BAC11371,BAD18694,CAD38852,AAP20040,AAH05169,AAH07835,AAH08344,Q0JTL0,Q0JUG4,Q0JUI0,Q0JUT1,Q0JVI5,Q8N2I9,CAL37398,CAL37413,CAL37475,CAL37648,CAL37730,CAL37831,CAL37847,CAL38152 Hs.471768 MGC4796|RP11-268J15.4|SHIK|SgK495 protein-coding 1351361 STK6P serine/threonine kinase 6 pseudogene 12477932,9605851 6791 NR_001587,AL445435,BC050630 Hs.654849 GDB:9838307 pseudo 68960 STMN1 stathmin 1/oncoprotein 18 This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Alternatively spliced transcript variants encoding the same protein have been identified. 15652749,2917975,8003023,10675326,9880330,9271428,11256614,18262179,18054374,17663418,17472732,17455228,17440165,17081983,17029844,17012855,16964243,16909102,16757134,16713569,16710414,16624860,16554300,16495930,16427064,16381901,16258287,16094384,15659612,15489336,15489334,14702039,12860982,12763137,12676564,12644570,12477932,12372625,12242154,11922601,11870780,11771751,11572331,11415983,11135364,11076863,10702243,10197448,9788875,8906359,8376365,8325880,8245003,8125092,8002936,7821789,7724523,2760073,2358074,2278968,1957351,1917919,1737801,1445213,12858178,16189514 3925 NM_203399,NM_005563,NM_203401,AL033528,CH471059,M31303,X94912,AB209282,AK054594,BC014353,BC023313,BC082228,BF686314,BG030679,BM563894,BQ428400,BQ772197,BX647885,CR591243,CR594842,CR598275,CR598511,CR600289,CR600348,CR601048,CR603270,CR604124,CR604588,CR606851,CR607598,CR607751,CR609472,CR609837,CR611531,CR611894,CR612036,CR615051,CR615576,CR617871,CR618293,CR618325,CR620720,CR622069,CR622594,CR623150,CR623446,CR624295,CR624339,D28428,J04991,X53305,Z11566 NP_981944,NP_005554,NP_981946,CAC16020,CAM12864,CAM12865,EAX07854,EAX07855,EAX07856,EAX07857,EAX07858,EAX07859,EAX07860,AAA59971,CAA64398,BAD92519,AAH14353,AAH82228,BAA05794,AAA59980,CAA37391,CAA77660,P16949,Q59G27,Q96CE4,CAL37732 Hs.707988 GDB:127971 LAP18|Lag|OP18|PP17|PP19|PR22|SMN stathmin 1 protein-coding 69000 STMN2 stathmin-like 2 Superior cervical ganglion-10 is a neuronal growth-associated protein that shares significant amino acid sequence similarity with the phosphoprotein stathmin (MIM 151442).[supplied by OMIM] 737642,1580863 16189514,18076368,17311410,16712787,16169070,15561718,15489334,14702039,12858178,12477932,12140291,11882662,11718727,10947801,9525956,9126608,9030585,8622778,15035981 737642 11075 NM_007029,AC016240,AC025599,CH471068,AK091336,AK292737,AL110174,BC006302,BT020034,CR456833,CR591212,CR593049,CR595801,CR597913,CR598266,CR599871,CR602351,CR605650,CR606122,CR607233,CR608911,CR609968,CR610743,CR611375,CR612959,CR614957,CR616668,CR618208,CR618531,CR618733,CR619618,CR621424,CR623788,D50375,S82024 NP_008960,EAW87063,EAW87064,EAW87065,BAF85426,AAH06302,AAV38837,CAG33114,BAA23326,AAB36428,Q93045,ABM83645,ABM86894 Hs.521651 GDB:11508600 SCG10|SCGN10|SGC10 protein-coding 69018 STMN3 stathmin-like 3 The protein encoded by this gene belongs to the stathmin/oncoprotein 18 family of microtubule-destabilizing phosphoproteins. It is similar to the SCG10 protein and is involved in signal transduction and regulation of microtubule dynamics. 69977,1580863 9603203,15489334,14702039,12676564,12477932,11780052,11278715,10655513,9788875 69977 50861 AK074860,AK094112,AK131326,BC009381,BC025234,BC032527,BC047671,BC056873,CR592669,NM_015894,AF217796,AL353715,CH471077,AF069709,AF069710,CR595816,CR598044,CR599947,CR602846,CR604904,CR610697,CR612260,CR614160,CR614165,CR623033 ABM87396,BAC11252,BAD18486,AAH09381,AAH25234,NP_056978,AAF35245,CAC16222,EAW75249,EAW75250,AAD12730,Q6ZN89,Q8NCA8,Q9NZ72,ABM84047 Hs.639609 GDB:11507969 SCLIP protein-coding 733859 STMN4 stathmin-like 4 1580863 15489334,12676564,12477932,11230166,9788875,9373149,8125298,12858178 81551 AL136568,BC011520,BC111001,CR591479,NM_030795,AC090150,CH471080,AJ303455,AK225142 AAH11520,CAB66503,AAI11002,Q9H169,ABM81966,ABM85145,NP_110422,EAW63562,EAW63563,EAW63564,EAW63565,EAW63566,EAW63567,CAC22254 Hs.201058 GDB:11507971 MGC111012|RB3 protein-coding 1349002 STN statin 3902853 1177 GDB:142839 1344779 STNL statin-like 6669 GDB:342109 1312947 STOM stomatin 1580863 17353931,9642292,1547348,12130500,17961506,17081065,16766530,16344560,15489334,15471860,15164053,15121101,12750157,12643545,12477932,12429719,10562431,10338112,9512664,9243190,9147127,8825639,8500356,8373790,7592848,1883838,16189514 2040 NM_004099,NM_198194,AL161784,AL359644,CH471090,U33931,X85116,AL040491,AU137947,BC010703,BI763647,BM451470,BM925356,CA447945,CR542100,CR623514,M81635,X60067 NP_004090,NP_937837,EAW87493,EAW87494,AAC50296,CAA59436,AAH10703,CAG46897,AAA58432,CAA42671,P27105,Q5VX95,ABM81984,ABM85162 Hs.253903 GDB:128993 BND7|EPB7|EPB72 protein-coding 1347763 STOML1 stomatin (EPB72)-like 1 1580863 16303743,15489334,14702039,12477932,10997330,9931417,9373149,8125298,15471860 9399 NM_004809,AC108137,AF156564,CH471082,CQ783352,AF074953,AF111800,AF156557,AK075244,AK091531,AK093689,AK222665,AL109664,AL109665,BC034379,BC065249,CR542089,CR595587,CR610605,DQ064605,Y16522 NP_004800,AAF23080,EAW77940,EAW77941,EAW77942,EAW77943,EAW77944,EAW77945,CAF86558,AAD42031,AAL39002,AAF06960,BAD96385,CAB52015,CAB52016,AAH34379,AAH65249,CAG46886,AAY68393,CAA76271,Q4PNR4,Q53HB6,Q9UBI4 Hs.194816 GDB:9956206 FLJ36370|SLP-1|STORP|hUNC-24 protein-coding 1317972 STOML2 stomatin (EPB72)-like 2 11435687,11042152,9373149,8125298,10713127,17709317,17342323,17121834,16671055,16533792,16236267,15592455,15489334,15164053,14702039,12477932 30968 NM_013442,AC004472,AL353795,CH471071,CQ815083,CQ834374,AF161458,AF190167,AF282596,AK027405,AK130546,AK223102,AK225114,BC002442,BC003025,BC010152,BC014990,CR590084,CR591719,CR594962,CR598276,CR604597,CR608510,CR610520,CR612088,CR614697,CR625020,CR592181 NP_038470,AAC07983,EAW58394,EAW58395,EAW58396,CAG30023,CAH05402,AAF29073,AAF09142,AAF91466,BAB55091,BAC85377,BAD96822,AAH02442,AAH03025,AAH10152,AAH14990,Q5VYM7,Q6ZNW0,Q9UJZ1,ABM83603,ABM86846 Hs.3439 GDB:11507973 HSPC108|SLP-2 protein-coding 1322361 STOML3 stomatin (EPB72)-like 3 1580863 15489334,15057823,12477932,12122055 161003 NM_145286,AL445590,CH471075,CQ815089,BC025760 AAH25760,Q8TAV4,ABM82602,ABW03405,NP_660329,CAI40973,EAX08609,CAG30025 Hs.327794 GDB:11511196 Epb7.2l|SRO protein-coding 1602494 STON1 stonin 1 Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Co-transcription of this gene and the neighboring downstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. 11454741,14702039,14504226,11381094,11159353,10364255 11037 NM_006873,AC073082,AL080210,AF255310,AK023617,AL700433,AL703296,AY026319,CR604481,CR936807 NP_006864,AAK57559,AAK11719,Q9Y6Q2,AAI66659 Hs.44385 DKFZp781K2462|SBLF|STN1|STNB1|stoned-b1 protein-coding 1604956 STON1-GTF2A1L STON1-GTF2A1L The STON1-GTF2A1L mRNA is an infrequent but naturally occurring co-transcribed product of the neighboring STON1 and GTF2A1L genes. This rare transcript encodes a fusion protein composed of greater than 95% each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. The significance of this co-transcribed mRNA and the function of its protein product have not yet been determined. 12477932,11454741,11381094,11159353,10364255 286749 NM_172311,AC073082,AF026169,BC101772,BC101774,BC121063,BC121064 NP_758515,AAY15064,AAD39617,AAI01773,AAI01775,AAI21064,AAI21065,Q0VAG7,Q0VAG8,Q3MIM1,Q53S48 Hs.44385 MGC126821|MGC126823|SALF protein-coding 1604566 STON2 stonin 2 Endocytosis of cell surface proteins requires a dynamic complex of proteins that assemble on the inner surface of the plasma membrane. Stonin-2 is a component of the endocytic machinery that likely regulates vesicle endocytosis.[supplied by OMIM] 11454741,14726597,18166656,16459302,15489334,12508121,12477932,11381094 85439 AL121769,AL136040,CH471061,AB208948,AF255309,AF380833,AF449430,BC069359,BC069389,BC069502,BC069587,BC117493,BC117495,NM_033104 NP_149095,EAW81340,EAW81341,BAD92185,AAK57558,AAK76362,AAL47008,AAH69359,AAH69389,AAH69502,AAH69587,AAI17494,AAI17496,Q17R23,Q59H11,Q6NT15,Q6NT31,Q6NT53,Q8WXE9 Hs.14248 STN2|STNB|STNB2 protein-coding 1350004 STOT salt tolerator 6798 GDB:9836969 1321633 STOX1 storkhead box 1 17617193,17290274,15806103,15489334,15164054,14702039,12477932 219736 NM_152709,AL359844,AL391539,CH471083,DQ099680,AK057864,AK057891,AK124681,AK127878,AW086180,AY842014,AY842015,AY842016,AY842017,BC063627,BC140011 NP_689922,EAW54303,AAZ07992,BAB71600,BAB71607,BAC87173,AAW48524,AAW48525,AAW48526,AAW48527,AAH63627,AAI40012,Q6ZVD7,BAC85925 Hs.37636 C10orf24|PEE4 chromosome 10 open reading frame 24 protein-coding 1601982 STOX2 storkhead box 2 14702039,12477932,10718198 56977 NM_020225,AC074194,CH471056,AB037813,AK001394,AK289840,AL390216,AL512713,BC146754 NP_064610,EAX04684,BAA92630,BAF82529,CAB99230,AAI46755,Q9P2F5 Hs.21958,Hs.696657 DKFZp762K222 protein-coding 1349037 STRA13 stimulated by retinoic acid 13 homolog (mouse) 737633 16878149,12477932,8839844,15719173,15994878 737633 201254 NM_144998,BC009571,BC011610,BI837753,CB110145,U95006,U95007 NP_659435,AAH09571,AAH11610,AAB53638,AAB53639,A8MT69,ABM84015,ABM87360 Hs.37616 GDB:11508604 MGC14480 protein-coding 1347443 STRA6 stimulated by retinoic acid gene 6 homolog (mouse) 11256614,18316031,17503335,17273977,14702039,12975309,12477932,9203140 64220 AC023545,CH471136,AF352728,AF352729,AF370419,AK022603,AK056125,AK091152,AK092227,AK291966,AY358748,AY359089,BC015881,BC025256,BX537413,NM_022369 NP_071764,EAW99353,EAW99354,EAW99355,EAW99356,AAK30289,AAK30290,AAQ15255,BAB14122,BAF84655,AAQ89108,AAQ89447,AAH15881,AAH25256,CAD97655,Q9BX79 Hs.24553 FLJ12541|MCOPS9|PP14296 protein-coding 1604701 STRA8 stimulated by retinoic acid gene 8 homolog (mouse) 12690205,12489526 346673 NM_182489,AC009542,CH236950,CH471070,AF513502 NP_872295,EAL24061,EAW83846,AAP47163,Q7Z7C7,AAI41428 Hs.592279 protein-coding 1322398 STRAP serine/threonine kinase receptor associated protein 1581429 17353931,17984321,17316412,17314099,17023415,16344560,16251192,16236267,16159890,15848170,15761153,15489334,12477932,11355021,11230166,11042152,10757800,10646843,10049359,9856985,12975319,16189514,15761148 1581429 11171 NM_007178,AC022073,CH471094,AB024327,AF161496,AJ010025,AK315891,AL136691,AY049776,BC000162,BC062306,BT020044,BT020045,CR592904,CR593028,CR595037,CR595576,CR596508,CR605637,CR609426,CR612761,CR613505,CR614164,CR614508,CR618413,CR622806,CR623175,CR623249,CR623562,DA666505 NP_009109,EAW96356,BAA75544,AAF29111,CAB38041,BAF98782,CAB66626,AAL15433,AAH00162,AAH62306,AAV38847,AAV38848,Q9Y3F4,ABM81877,ABM85039 Hs.504895 MAWD|PT-WD|UNRIP protein-coding 1352738 STRBP spermatid perinuclear RNA binding protein 1580863 11256614,16381901,16189514,15489336,15489334,15164053,14702039,12477932,11336498,11230166,11076863,10684936,9674995,7744952 55342 AF333337,AK002169,AK024285,AK027890,AL136866,AL833947,AL834150,BC002693,BC017732,BC108731,CR596677,CR621060,NM_018387,AL365338,AL365504,CH471090 EAW87564,EAW87565,EAW87566,AAK20832,BAA92120,BAB14873,BAB55434,CAB66800,CAI46213,CAI46219,AAH02693,AAH17732,AAI08732,Q5JPA5,Q96SI9,CAL37906,NP_060857,CAH70299,CAH70300,EAW87563 Hs.708072 GDB:11503251 DKFZp434N214|FLJ11307|FLJ14223|FLJ14984|MGC21529|MGC3405|SPNR|p74 protein-coding 1344167 STRC stereocilin This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. 1599186,1580863 16572171,14702039,12477932,12445334,12324385,11687802,10090914,9429146 1599186 161497 NM_153700,XM_001715128,XM_001718339,NG_005156,AC011330,CH471308,AK090757,AK122814,AK124582,AK126721,BC129931,BC129932,BK000138 NP_714544,XP_001715180,XP_001718391,EAW50803,AAI29932,AAI29933,DAA00085,Q7RTU9 Hs.657395,Hs.679467 GDB:5822909 DFNB16|MGC156147 protein-coding 2290508 STRCP stereocilin pseudogene 12825070 554225 NG_005156,AC011330,AC018512 pseudo 1342557 STRM striamin 337940 AF031663 GDB:11510874 736385 STRN striatin, calmodulin binding protein 70027,1580863 9693043,15815621,15569929,15489334,15231748,12477932,12153137,11707266,10681496,8769426,17353931 70027 6801 NM_003162,AC007382,AC007404,CH471053,AJ223814,AK026934,BC015406,BC036416,BC106878,BC106879 NP_003153,AAF66162,AAY24273,EAX00414,CAA11560,AAI06879,AAI06880,O43815,Q3B874 Hs.656726 GDB:9836955 MGC125642|SG2NA striatin protein-coding 737101 STRN3 striatin, calmodulin binding protein 3 1580863 10748158,7910562,16964243,16396496,16344560,15302935,12477932,11319234,10681496,7864889,17353931 29966 AL049830,AL121808,CH471078,AA572712,AF243424,AK290229,AW070834,BC126221,BC132673,BG572065,BM453981,CA774504,DA854600,U17989,NM_014574,NM_001083893 EAW65959,EAW65960,EAW65961,AAF81201,BAF82918,AAI26222,AAI32674,AAB81551,A0AV58,Q13033,NP_055389,NP_001077362 Hs.401843 GDB:11510227 SG2NA nuclear autoantigen protein-coding 1315983 STRN4 striatin, calmodulin binding protein 4 1580863 10748158,16344560,15489334,14702039,12477932,9373149,8125298,17353931,11707266 29888 NM_001039877,NM_013403,AC008622,AC008635,CH471126,AB209003,AF212940,AK056294,AK092913,AK225493,BC004910,BC014278,BC034604,CR612925,CR622498,DA510367 NP_001034966,NP_037535,EAW57442,EAW57443,BAD92240,AAF29527,AAH04910,AAH34604,Q59GV6,Q9NRL3 Hs.631590 FLJ35594|ZIN|zinedin protein-coding 735809 STS steroid sulfatase (microsomal), isozyme S The protein encoded by this gene catalyzes the conversion of sulfated steroid precursors to estrogens during pregnancy. The encoded protein is found in the endoplasmic reticulum, where it acts as a homodimer. Mutations in this gene are known to cause X-linked ichthyosis (XLI). 1601393,1601402,1300048,1580863 11886493,11844872,10844566,10679952,8889548,6948769,3471087,3464600,17601726,17481887,17454161,17426092,17415442,16837617,16556483,16467490,16399357,16344560,16084891,15489334,15355916,15302278,15152080,15056284,15009711,14969586,14556660,14507642,12657638,12477932,12231117,11996939,2668275,9252398,6957717,3203382,3165728,3034252,3032454,2765556,2065092,1539590 1601393,1601402 412 NM_000351,AC005704,AC112651,CH471074,M23556,M23945,AL133910,AM072428,AM072429,AM282551,AM282552,AM282553,AM282554,AU135967,AU137602,AU137974,AU138059,BC075030,BF194867,CB250477,CR618192,H00840,J04964,M16505,M17591 NP_000342,EAW98749,AAA60599,AAA60598,CAJ21479,CAJ21480,CAK54338,CAK54339,CAK54340,CAK54341,AAH75030,AAA60597,AAA60596,P08842,Q0GM94,Q0W975 Hs.522578 GDB:120393 ARSC|ARSC1|ASC|ES|SSDD steroid sulfatase protein-coding 1344174 STSP steroid sulfatase (microsomal) pseudogene 12815422,3203382 6803 NG_001197,AC006382,M23946 GDB:119605 pseudo 1342989 STT3A STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) 1300198,1580863 12887896,15835887,12477932,10234787,8941377,8838310,8634329 1300198 3703 AP001132,AP001494,CH471065,CQ834714,AK130548,AK290040,AK290657,BC020965,BC048348,BT007100,BX649102,CR606556,L38961,L47337,NM_152713 NP_689926,EAW67647,CAH05572,BAF82729,BAF83346,AAH20965,AAH48348,AAP35764,AAB05994,AAL77539,P46977 Hs.504237 GDB:3750454 FLJ27038|ITM1|MGC9042|STT3-A|TMC protein-coding 1606939 STT3B STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) The SIMP protein contains a highly immunogenic minor histocompatibility antigen epitope of 9 amino acids, B6(dom1). Like ITM1 (MIM 601134), SIMP is homologous to yeast STT3, an oligosaccharyltransferase essential for cell proliferation (McBride et al., 2002 [PubMed 12439619]).[supplied by OMIM] 12439619,12887896,17081983,16303743,15835887,15489334,14702039,12477932 201595 NM_178862,AC104643,CH471055,AK027789,AK074587,AK075380,AY074880,BC015880,CR610915,CR620015 NP_849193,EAW64415,EAW64416,BAB55370,BAC11076,BAC11581,AAL71884,AAH15880,Q8N2N0,Q8TCJ2 Hs.475812 FLJ90106|SIMP|STT3-B protein-coding 1314629 STUB1 STIP1 homology and U-box containing protein 1 10330192,16307917,11146632,15781469,18313385,17963781,17962192,17666403,17545168,17324930,17304350,17157513,17127076,17081983,16964243,16831871,16725394,16720573,16293251,16207813,16169850,16111477,16037132,15911628,15761032,15489334,15466472,15358145,15302935,15215316,15107424,15046863,14962978,14701756,14612456,12574167,12559985,12477932,12200376,12150907,11805346,11557750,11157797,9610721,16189514,11676916,15708501 10273 NM_005861,AE006464,CH471112,CB145452,CR593928,CR595251,CR599229,CR603664,CR605807,CR608722,CR610644,CR614839,CR620798,CR624881,CR625822,Z92544,AF039689,AF129085,AF217968,AF432221,BC007545,BC017178,BC022788,BC063617 NP_005852,AAK61242,EAW85756,EAW85757,EAW85758,Q9UNE7,ABM84111,ABM87501,CAM26348,AAC18038,AAD33400,AAG17211,AAL99927,AAH07545,AAH17178,AAH22788,AAH63617 Hs.592081 GDB:9955846 CHIP|HSPABP2|NY-CO-7|SDCCAG7|UBOX1 protein-coding 1353548 STX10 syntaxin 10 1580863 9446797,16154903,15878329,15489334,12477932 8677 CH471106,AF035531,AY778966,BC017237,BC095459,CR457110,CR601641,CR614578,CR622979,NM_003765,AC011446 EAW84356,EAW84357,AAC05087,AAV48594,AAH17237,CAG33391,O60499,Q5U8S2,Q6IAP4,NP_003756 Hs.43812 GDB:9956245 SYN10|hsyn10 protein-coding 1312365 STX11 syntaxin 11 This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. 634082,1580863 17525286,16278825,16189514,16180048,15703195,15489334,12477932,10080545,10036234,9571206,9553086,17785771 634082 8676 NM_003764,NG_007613,AL135917,AL512354,CH471051,AF038898,AF044309,AF071504,AI791689,AJ012501,AJ012506,BC033519,BF941242,BM150302,BQ030324,CR739089 NP_003755,CAI22980,EAW47849,EAW47850,AAD02107,AAC24031,AAC24004,AAH33519,O75558,Q5TCL6 Hs.118958,Hs.133457,Hs.657642 GDB:9956241 FHL4|HLH4|HPLH4 protein-coding 737034 STX12 syntaxin 12 634081,1580863 11936273,10886332,10833436,10610180,10458612,9852078,9817754,9553086,9507000,9110174,8619474,15469992,17081983,15489334,14702039,12847087,12477932,12070131 634081 23673 NM_177424,AL020997,CH471059,AF070635,AF123769,AK095898,AL035306,BC046999,BM148993,CR407620,CR590474,CR596091,CR598864,CR609308 NP_803173,CAI20574,CAI20575,EAX07738,EAX07739,AAP97248,CAA22911,AAH46999,CAG28548,Q5TIE9,Q6LEU0,Q86Y82 Hs.523855 GDB:10450516 MGC51957|STX13|STX14 protein-coding 1319758 STX16 syntaxin 16 1580863 15215310,9464276,9587053,17389686,15800843,15489334,15231748,14671302,12477932,12110575,11839770,11780052,11483580 8675 AF008937,AF038897,AF305817,AF428146,AK026970,AK026974,BC019042,BC073876,CF594260,CR617956,DQ272217,NM_001001433,NM_003763,AL050327,AY414339,BX537977,CH471077,AA256337,AF008935,AF008936 AAB69283,AAB69284,AAC05647,AAK55520,AAL25100,AAH19042,AAH73876,O14662,Q6GMS8,Q96JR6,Q96NX8,NP_001001433,NP_003754,EAW75481,EAW75482,EAW75483,EAW75484,EAW75485,EAW75486,EAW75487,AAB69282 Hs.307913 GDB:9956237 MGC90328|SYN16|hsyn16 protein-coding 1352651 STX17 syntaxin 17 1299477,1580863 14702039,12477932,10930465,9852078 1299477 55014 NM_017919,AL358937,CH471105,AI375996,AK000658,AK095262,AK124662,AL833620,AL834371,BC051790,BC070269,BC101564,BC101566,BC111009,DC318495 NP_060389,CAI95318,EAW58920,BAA91311,CAD39034,AAH51790,AAH70269,AAI01565,AAI01567,AAI11010,P56962,Q2TAB5,Q4VXC2,Q6NSC7,Q86TF3,Q8N3G0 Hs.591900 GDB:9956832 FLJ20651|MGC102796|MGC126613|MGC126615 protein-coding 1320740 STX18 syntaxin 18 1580863 10788491,16571679,15489334,15272311,15029241,12477932 53407 NM_016930,AC013725,AC110814,CH471131,AB028741,AL832867,AY453396,BC014613,BC071980,BG771856,BT007150,BT020135,BX647083,CR609491,CR625633 NP_058626,EAW82427,EAW82428,EAW82429,BAA95213,AAS47513,AAH14613,AAP35814,AAV38937,Q9P2W9 Hs.584913 GDB:11504585 DKFZp686O15149|Ufe1 protein-coding 1605776 STX19 syntaxin 19 15489334,12477932 415117 NM_001001850,AC117474,AC130896,CH471052,AF461456,BC034696 NP_001001850,EAW79902,AAQ04780,AAH34696,Q8N4C7 Hs.679768 MGC21382 protein-coding 69485 STX1A syntaxin 1A (brain) Synaptic vesicles store neurotransmitters that are released during calcium-regulated exocytosis. The specificity of neurotransmitter release requires the localization of both synaptic vesicles and calcium channels to the presynaptic active zone. Syntaxins function in this vesicle fusion process. Syntaxins also serve as a substrate for botulinum neurotoxin type C, a metalloprotease that blocks exocytosis and has high affinity for a molecular complex that includes the alpha-latrotoxin receptor (MIM 600565) which produces explosive exocytosis (Zhang et al., 1995 [PubMed 7622072]).[supplied by OMIM] 1581432,1581434,1580863 9045631,9030619,9010211,9003414,8999968,8108429,7791877,7768895,7622514,7622072,7553862,1321498,1315316,12590134,12121982,12828989,12832401,12963086,10891589,15778713,12853948,12853575,12730201,12651853,12629174,12586365,12562778,12558796,12446681,12403834,12209004,12200427,12198139,12175857,12145319,12130530,12114505,12101244,12093152,11960023,11884041,11845306,11719842,11509230,11438523,11438522,11112705,11101518,11017172,10954418,10844023,10746715,10722844,10707983,10675364,10468580,12477932,10449403,10409621,10397765,10373452,10321247,10194441,10100611,10080545,9930733,9852078,9698305,9697855,9620695,9556632,9478941,9395480,9384384,15537656,8611567,18065728,17912268,17543282,9311751,9177791,9067339,17506992,17264080,17032905,16672225,15822905,15563604,15489334,15459722,15339904,15316009,15219469,15202772,15184072,15175344,14996668,14623309 1581432,1581434 6804 NM_004603,AC073846,CH471200,U87315,AB086954,BC000444,BC003011,BC064644,CR457018,CR601836,CR621226,D37932,L37792,U12918 NP_004594,AAS07469,AAS07470,EAW69651,EAW69649,EAW69650,EAW69652,EAW69653,EAW69654,EAW69655,AAB65500,AAK54507,BAC78519,AAH03011,AAH64644,CAG33299,BAA07151,AAA53519,AAA20940,Q16623,Q75MD9,Q75ME0,Q7Z5K3 Hs.647024 GDB:134536 HPC-1|STX1|p35-1 syntaxin 1a protein-coding 736110 STX1B syntaxin 1B 8105537,15489334,12477932,8884284,8999968,12651853,11112705,12093152 112755 NM_052874,AC135048,AC135050,CH471192,AY028792,AY995211,BC038359,BC062298,BX102270 NP_443106,EAW52178,AAK27267,AAY45889,AAH62298,P61266,Q2VPS2 Hs.542230 GDB:11507977 STX1B1|STX1B2 protein-coding 1350789 STX1B1 syntaxin 1B1 1580863 8884284,8105537 6805 Q15531 D37933 GDB:687018 732157 STX2 syntaxin 2 The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. 728629,1580863 8466509,1581962,16339081,17485553,15943887,15651999,15489334,12477932,12198139,10777504,10397765,9425164,9177305,9110174,9045631,8999968,8938452,8619474,8549663,7791877,7768895,12651853,12828989,12773094 728629 2054 NM_001980,NM_194356,AC073912,CH471054,AF052181,BC047496,CD300217,CR613802,D14582 NP_001971,NP_919337,EAW98513,EAW98514,AAH47496,BAA03436,P32856 Hs.437585 GDB:362733 EPIM|EPM|MGC51014|STX2A|STX2B|STX2C protein-coding 735349 STX3 syntaxin 3 1580863 16339081,16598260,15623527,15489334,12828989,12477932,12198139,10788461,10397765,10336434,10080545,9852078,9701566,9614185,9378770,9045631,8824312,7791877,7768895,7598732,16189514 6809 AP000640,CH471076,NM_004177,AJ002076,AJ002077,AK125660,AK290251,BC007405,BC007429,BT006666,BX538158,U32315,X90581 NP_004168,EAW73853,EAW73854,EAW73855,EAW73856,EAW73857,CAA05175,CAA05176,BAF82940,AAH07405,AAH07429,AAP35312,CAD98039,AAA75303,CAA62209,Q13277,Q53YE2,Q7Z338 Hs.180711 GDB:687075 STX3A protein-coding 731468 STX4 syntaxin 4 1580863 16339081,10856305,7690687,16189514,15489334,15351710,15184072,14993220,14702039,12855681,12853575,12832401,12558796,12556468,12517971,12477932,12435603,12417022,12145319,12130530,11884531,11880646,11842301,11063739,10820264,10508479,10397765,10394363,10194441,9815132,9168999,9045631,8973549,8770861,8760387,8206394,7791877,12651853,12828989,12773094 6810 NM_004604,AC135050,CH471192,AF026007,AJ000541,AK091833,BC002436,BT007326,CR541806,CR590461,CR593917,CR626489,U07158,X85784,AF318489 NP_004595,EAW52175,EAW52176,EAW52177,AAB88810,CAA04174,AAH02436,AAP35990,CAG46605,AAA20967,CAA59769,Q12846,Q6FHE8,AAG40313 Hs.83734 GDB:687076 STX4A|p35-2 protein-coding 68634 STX5 syntaxin 5 1580863 15215310,9188044,18167358,17389686,16081076,15489334,14565970,12506202,12477932,12473691,12388752,11959998,11035026,10080545,9714710,9647643,9506515,9166403,9094723,12651853,16189514,15029241,11927603,15109302 6811 NM_003164,AP001160,CH471076,CQ871256,BC002645,BC012137,BT019646,BT019647,BX537426,CB155395,CR590111,CR590126,CR598903,CR599366,CR600501,CR600704,CR601025,CR603145,CR606940,CR616870,CR617230,U26648 NP_003155,EAW74108,EAW74109,EAW74110,CAH56809,AAH02645,AAH12137,AAV38452,AAV38453,CAD97668,AAC71078,Q13190 Hs.654602 GDB:687077 SED5|STX5A syntaxin 5a protein-coding 731983 STX6 syntaxin 6 1580863 10506127,9697774,16710414,15689499,15489334,15322554,14702039,14623309,12853575,12477932,11839770,11707463,11423532,11384996,11278762,11001914,10839363,10359608,10080545,9880331,9110174,8663448,8619474,16189514 10228 NM_005819,AL162431,AL356267,CH471067,AF038202,AJ002078,AK056657,BC009944,BC039118,BU902578,CR541856,CR541873,CR591752,CR608098,CR609438,CR610805,CR612118 NP_005810,EAW91091,EAW91092,EAW91093,CAA05177,BAB71242,AAH09944,AAH39118,CAG46654,CAG46671,O43752,Q49AF6,Q96MP3,ABM82858,ABM86045 Hs.518417 GDB:9955766 protein-coding 737314 STX7 syntaxin 7 1580863 9358037,18198266,16344560,15489334,15345747,14574404,12730232,12665801,12218144,12175335,12114520,11786915,11591653,11423532,11382755,11278762,11101518,10982406,10839363,10692457,10564279,9852078,9417091,16189514,14623309,12543931,12477932 8417 NM_003569,AL357034,AL589691,CH471051,AJ420529,AW500305,BC011975,BF064142,CR596095,CR607128,CR615646,CR618907,DA242979,U77942 NP_003560,CAI15716,CAI15717,CAI16816,CAI16817,EAW48029,EAW48030,AAH11975,AAC51851,O15400 Hs.593148,Hs.605992 GDB:9955104 protein-coding 731411 STX8 syntaxin 8 1299477,1580863 10198254,9852078,16189514,15761153,15489334,15039462,14991845,14623309,12477932,12388752,12175335,11786915,11278762,11101518,10839363,10781590,10683148,10564279 1299477 9482 NM_004853,AC005695,AC009335,AC087501,CH471108,AF036715,AF062077,AF115323,BC009713,BC020924,BT007319 NP_004844,EAW90028,EAW90029,EAW90030,EAW90031,AAC95285,AAC36466,AAD20831,AAH09713,AAP35983,Q53XT8,Q9UNK0,ABM81911,ABM85087 Hs.431109 GDB:9956825 CARB protein-coding 737322 STXBP1 syntaxin binding protein 1 9545644,9395480,9115738,9045631,8824310,8631738,8108429,7698978,12773094,16189514,17264080,16413130,15635413,15592455,15563604,15489334,15489225,15175344,14744865,12963086,12950453,12590134,12519779,12477932,12093152,12016213,11927603,10903204,10746715,10449403,10194441,9933594 6812 NM_003165,NM_001032221,AL162426,CH471090,AB209180,AF004562,AF004563,BC015749,CR602337,CR626680,D63851,Y12723 NP_003156,NP_001027392,EAW87679,EAW87680,EAW87681,BAD92417,AAC39688,AAC39689,AAH15749,BAA19483,CAA73255,P61764,Q59GC9,Q5JU62,Q68CM6,ABM86352,ABW03785 Hs.288229 GDB:5365450 MUNC18-1|UNC18|hUNC18|rbSec1 protein-coding 733592 STXBP2 syntaxin binding protein 2 1580863 16344560,14702039,12773094,12649283,12482918,12477932,12198139,12065586,11748230,10788461,9701566,9373149,9045631,8921365,8125298,7768895,7598732,16189514 6813 NM_001127396,AC008763,CH471139,AB002559,AF318317,AK098000,AK222967,AK222977,BC002869,BT006915,CR597245,CR598164,CR601226,CR603281,CR611106,NM_006949,CR611137,CR611383,CR613567,CR617049,CR620863,CR625756,CR626453,DA431480,U63533 NP_008880,NP_001120868,EAW69017,EAW69018,BAA19547,AAL55824,BAD96687,BAD96697,AAH02869,AAP35561,AAC50762,O00184,Q15833,Q53GF4,Q8WYX9,Q9BU65 Hs.709413 GDB:5365451 Hunc18b|MUNC18-2|UNC18-2|UNC18B|pp10122 protein-coding 732509 STXBP3 syntaxin binding protein 3 1580863 15576373,15489334,15146197,12477932,12065586,10194441,9373149,8824310,8125298,12773094,12832401,15707389 6814 NM_007269,AL449266,AL591719,CH471122,AF032922,AK223170,AK290134,AK291322,BC028028,BC038099,BC047764,CN409056,CR606910,CR610191,D63506 NP_009200,CAI14350,EAW56330,EAW56331,EAW56332,AAC69606,BAD96890,BAF82823,BAF84011,AAH28028,AAH38099,AAH47764,BAA19482,O00186,Q53FW1,Q5VTL6,Q8N363 Hs.530436 GDB:5365452 MUNC18-3|MUNC18C|PSP|UNC-18C protein-coding 1317366 STXBP4 syntaxin binding protein 4 15753124,15489334,14702039,12855681,12477932,10394363 252983 NM_178509,AC005177,AC007485,CH471109,AK122865,AK123793,BC041485,BC125116,CA848494,CR593155 NP_848604,EAW94545,EAW94546,BAC85511,AAH41485,AAI25117,Q08AL9,Q6ZWJ1 Hs.35199 GDB:11511198 FLJ16496|MGC149829|MGC50337|Synip protein-coding 1347913 STXBP5 syntaxin binding protein 5 (tomosyn) Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced variants have been identified, but their biological validity has not been determined. 1299498 17081983,14767561,14702039,14574404,12832401,12477932,10066450,9620695 1299498 134957 AL355365,NM_139244,AL356415,AL590709,CH471051,AB073398,AI079651,AK055484,AK090549,AK128121,AL834152,BC043645,BC065713,BC107737,BC113382,BC113408,CR597799 NP_640337,CAI40420,CAI40423,CAI40424,CAI40425,CAI20239,CAI20240,CAI20241,CAI40737,CAI40739,CAI40740,CAI40741,EAW47819,EAW47820,EAW47821,EAW47822,EAW47823,BAE45727,BAB70930,BAC03475,AAI07738,AAI13383,AAI13409,Q14DD4,Q14DF3,Q3B794,Q3LIE1,Q5JRH1,Q5T5C0 Hs.93534 GDB:9957222 FLJ30922|LGL3|LLGL3|MGC141942|MGC141968|Nbla04300 protein-coding 1323085 STXBP5L syntaxin binding protein 5-like 1580863 15489334,14767561,12477932,10231032,9620695 9515 NM_014980,AC072026,AC078854,AC078857,AC079841,AC112483,AC128659,CH471052,AB023223,AI279148,BC022029,BC037531,DC324331,DC403621 NP_055795,EAW79516,BAA76850,AAH22029,AAH37531,Q9Y2K9,AAI66611 Hs.477315 KIAA1006|LLGL4 protein-coding 1314544 STXBP6 syntaxin binding protein 6 (amisyn) STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM] 625564 15489334,14702039,12508121,12477932,12145319,11042152,16189514 625564 29091 NM_014178,AL137164,AL161663,AL161666,CH471078,AF161505,AF391153,AK096957,AL834346,BC009499,BC067278 NP_054897,EAW65996,EAW65997,EAW65998,EAW65999,EAW66000,EAW66001,AAF29120,AAM46624,BAC04911,CAD39012,AAH09499,AAH67278,Q8NFX7,ABM84053,ABM87404 Hs.508958 GDB:11511199 FLJ39638|HSPC156|amisyn protein-coding 1348462 STYK1 serine/threonine/tyrosine kinase 1 Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM] 11256614,17298854,16381901,15489336,15489334,15150103,12841579,12477932,11230166,11076863 55359 NM_018423,AC021049,CH471094,AF251059,AL353940,AY563054,BC093822,BC093824 Q6J9G0,NP_060893,EAW96200,AAK34949,CAB89250,AAT01226,AAH93822,AAH93824,CAL38683 Hs.24979 DKFZp761P1010|NOK|SuRTK106 protein-coding 1312345 STYX serine/threonine/tyrosine interacting protein 1580863 17047026,15489334,14702039,12477932,11842224,9633825,7592916 6815 NM_145251,AL133453,AL139317,CH471061,CH471078,AF085865,AK098195,AL832591,AL832697,BC020265,BX647636,U87169 NP_660294,EAW80612,EAW80613,EAW65641,EAW65644,BAC05259,AAH20265,AAB47561,Q8WUJ0 Hs.364980 GDB:9864452 protein-coding 1353281 STYXL1 serine/threonine/tyrosine interacting-like 1 1580863 17353931,9757831,15790807,15761153,15489334,12853948,12477932,15735734 51657 NM_016086,AC006330,CH471220,AA782050,AF069762,AF169647,AF169648,AF188201,AF188202,AF188203,AF188204,AI676056,AY927581,BC024035,BM824947,BX537896,CR604706,CR605601,CR609218,CR611131,CR615380,W58723 NP_057170,AAS07535,EAW71789,EAW71790,EAW71791,EAW71792,EAW71793,EAW71794,EAW71795,AAD36983,AAD53723,AAD53724,AAF04111,AAF04112,AAF04113,AAF04114,AAH24035,CAD97887,Q7Z3H6,Q9Y6J8,ABM84346,ABM87738 Hs.11615 DUSP24|MK-STYX dual specificity phosphatase 24 (putative) protein-coding 1605698 SUB1 SUB1 homolog (S. cerevisiae) 11389848,8062391,17081983,16982701,16415882,15635413,15489334,15302935,14966284,12665168,12590132,12565890,12477932,11741883,11313979,11279157,11005381,10887206,9660958,9660784,9632764,9482861,9360603,8062392,7809103,7628453,16189514,15893730 10923 BC018189,NM_006713,AC074134,CH471118,AB209285,BC009610,BC010537,BC022339,BC063402,BC071655,BC105972,CR456902,CR596049,CR607437,CR611066,CR618311,CR618378,CR625854,U12979,X79805 NP_006704,EAX10793,EAX10794,EAX10795,EAX10796,BAD92522,AAH09610,AAH10537,AAH18189,AAH22339,AAI05973,CAG33183,AAA20980,CAA56200,P53999,Q59G24,Q6IBA2 Hs.229641 MGC102747|P15|PC4|p14 protein-coding 2291764 SUB1P1 SUB1 homolog (S. cerevisiae) pseudogene 1 11181995 728938 NG_007169,AC069185,CH471157 EAW65627 hCG17750 pseudo 1319721 SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. 1580863 10727444,14643893,15877282,15592455,15489334,14702039,12477932,10508479,9765291,9373149,8125298,16189514 8803 AL080096,BC027587,BX640602,CR596143,CR598689,CR625494,AL157369,CH471075,AB035863,AF058953,AF087890,AK001458,AK001847,AK093506,AK225452,NM_003850 CAB45708,AAH27587,CAE45708,Q5T9Q4,Q5T9Q5,Q5T9Q6,Q6N0B1,Q7Z503,Q9P2R7,Q9Y4T0,NP_003841,CAI15149,CAI15150,CAI15151,CAI15153,EAX08775,EAX08776,EAX08777,EAX08778,BAA92873,AAC64396,AAP97189,BAA91703,BAA91939 Hs.546323 GDB:9957268 A-BETA|SCS-betaA protein-coding 1349385 SUCLA2P succinate-CoA ligase, ADP-forming, beta subunit pseudogene 394219 731609 SUCLG1 succinate-CoA ligase, alpha subunit 1580863 15234968,9128182,17668387,16730941,15489334,15342556,12477932,10873456,9373149,8125298 8802 NM_003849,AC096770,CH471053,AA705613,AF104921,AK024767,AK225737,AK291082,BC000504,BM804835,BP194715,CR457139,CR590612,CR598959,CR599526,CR603992,CR605758,CR611933,CR612822,CR622153,Z68204 NP_003840,AAY24107,EAW99558,AAD17940,BAF83771,AAH00504,CAG33420,CAA92426,P53597,Q6IAL5 Hs.270428 GDB:9957266 FLJ21114|G-ALPHA|SUCLA1 protein-coding 1312779 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 1580863 9765291,15234968,15489334,12477932,10873456,10471510,9110174,8619474 8801 NM_003848,AC099783,AC112213,AC113169,AC114401,CH471055,AF058954,AF131748,AL050226,BC007716,BC019868,BC035149,BC047024,BC068602,CR592655 NP_003839,EAW65456,EAW65457,AAC64397,AAD20032,CAB43323,AAH07716,AAH19868,AAH35149,AAH47024,AAH68602,Q3ZCW5,Q96I99,Q9Y436 Hs.655250 GDB:9957264 G-BETA protein-coding 1353653 SUCNR1 succinate receptor 1 1331358,1331359 17192395,15489334,15141213,12477932,11273702 1331358,1331359 56670 NM_033050,AC068647,CH471052,AF348078,AK290420,BC030948,EU432110 NP_149039,EAW78789,EAW78790,AAK29080,BAF83109,AAH30948,ABY87909,Q9BXA5,ABM86821 Hs.279575 GPR91 protein-coding 1605050 SUDS3 suppressor of defective silencing 3 homolog (S. cerevisiae) SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM] 11909966,12670868,17081983,15489334,14702039,12724404,12477932,11214971 64426 AC026367,NM_022491,CH471054,AA916093,AK023801,AK024460,AK026749,BC030252,BC045728,BC093990,BC098404,BC112000,BX647687,CR594551,CR625328 Q9H7L9,NP_071936,EAW98137,EAW98138,EAW98139,EAW98140,EAW98141,BAB14685,BAB15750,AAH30252,AAH93990,AAH98404,AAI12001,Q2M2F3,Q52LB7 Hs.416630,Hs.602312 FLJ00052|MGC104711|SAP45|SDS3 protein-coding 1346700 SUFU suppressor of fused homolog (Drosophila) SUFU encodes a component of the sonic hedgehog (SHH; MIM 600725)/patched (PTCH; MIM 601309) signaling pathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes (e.g., HPE3, MIM 142945; BCNS, MIM 109400; and GCPS, MIM 175700).[supplied by OMIM] 1599191 10564661,10559945,18077375,16691619,16189514,15489334,15367681,15164054,15077159,14611647,12975309,12477932,12426310,12068298,11960000,11252182,10806483 1599191 51684 NM_016169,AL121928,AL157386,AL391121,AY081829,CH471066,AF144231,AF159447,AF172319,AF175770,AF222345,AL137465,AY358550,BC013291 NP_057253,CAI39611,CAI39612,CAI39614,CAI39615,CAI40859,CAI40860,CAI40864,CAI40865,AAM08947,EAW49681,EAW49682,EAW49683,EAW49684,AAF23890,AAF23893,AAD51655,AAD50501,AAF35866,CAB70752,AAQ88914,AAH13291,Q5JSM0,Q5JSM1,Q5JWB5,Q9UMX1,ABM83512,ABM86730 Hs.404089 GDB:11507979 PRO1280|SUFUH|SUFUXL protein-coding 1316810 SUGT1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) This gene is homologous to the yeast gene SGT1, which encodes a protein involved in kinetochore function and required for the G1/S and G2/M transitions. Complementation studies suggest that the human protein has similar functions. 1580863 10445024,18358234,17466273,17420470,16964243,15592455,15489334,15346769,15018354,12746458,12665801,12477932 10910 AL139089,CH471124,AF132856,AJ344097,AK291402,AK292128,AY271314,AY321358,BC000911,BT009798,NM_006704,CR607917,CR610986,CR624815 NP_006695,CAI17072,EAW52043,EAW52044,EAW52045,EAW52046,AAD30062,CAC51433,BAF84091,BAF84817,AAQ01749,AAQ76039,AAH00911,AAP88800,Q5TAM5,Q5TAM6,Q9P1S2,Q9Y2Z0,ABM81871,ABM85034 Hs.281902 GDB:9958586 SGT1 protein-coding 1346021 SUGT1L1 SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae) 14702039,12477932 283507 XM_001131049,XM_928419,XM_001133768,NR_003365,AL157877,AL590064,AF086053,AK093232,AK096993,BC020814,BC047078 XP_001131049,XP_933512,XP_001133768,CAI13219,AAH20814,Q5T9E9,Q5T9F0,Q5T9F1,Q8WW66 Hs.442781 pseudo 1605159 SUGT1P suppressor of G2 allele of SKP1 pseudogene (S. cerevisiae) 12477932 441394 XR_000597,NR_003667,AL139008 Q5W0G3 GDB:11511201 MGC15151|SGT1P|bA255A11.1 pseudo 1626140 SUGT1P2 suppressor of G2 allele of SKP1 pseudogene 2 (S. cerevisiae) 728706 NG_006446,AC138972 pseudo 733350 SULF1 sulfatase 1 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF1, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM] 1580863 12368295,17437011,17363371,16192265,15817123,14702039,14699503,12686563,12477932,11230166,10470851 23213 NM_015170,AC013746,AC022790,AC091047,CH471068,AB029000,AF545571,AK055467,AK055607,AK074873,AK095341,AK123744,AL136772,AY101175,BC012997,BC068565,BX571746,CR594815 NP_055985,EAW86953,EAW86954,EAW86955,BAA83029,AAO33315,BAC11258,CAB66706,AAM76860,AAH12997,AAH68565,CAE11871,Q6NUJ9,Q7Z2W2,Q8IWU6,Q96E28,Q9NTJ8 Hs.409602 FLJ30905|FLJ38022|FLJ41750|HSULF-1|KIAA1077|SULF-1 protein-coding 1312895 SULF2 sulfatase 2 Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM] 12368295,16417632,16331886,16192265,15489334,12975309,12477932,12168954,11780052,11549316,10574462 55959 NM_198596,NM_018837,AL034418,AL121777,AL354813,CH471077,AB033073,AK074483,AK075035,AL133001,AY101176,AY358461,BC020962,BC073790,BC090952,BC110538,BC110539,BX370010,CR611969,CR749319 NP_940998,NP_061325,CAC17694,CAI42142,EAW75690,EAW75691,EAW75692,EAW75693,EAW75694,EAW75695,BAA86561,CAB61349,AAM76861,AAQ88826,AAH20962,AAH73790,CAI42143,AAH90952,AAI10540,CAH18174,Q5BKT1,Q5JYE2,Q5T6Q3,Q6DKK3,Q8IWU5 Hs.162016 DKFZp313E091|FLJ90554|HSULF-2|KIAA1247|MGC126411 protein-coding 1354374 SULT sulfotransferase 6816 GDB:637786 735435 SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. 1581436,1581437,1581438,1581439,1581441,1581442,1581446,1581447,1581448,1581449,1581451,1581452,1581453,1581454,1581455,1625563,1580863,1300048 8661000,18447907,18368507,18365755,18318428,18264785,18259693,18006944,17996038,17947222,17912498,17619904,17605044,17603900,17479406,17425406,17372243,17372239,17293380,17274372,17244352,17189289,17074589,17013894,16985250,16985032,16926176,12469224,12468438,12455060,12419832,12419790,12402313,12165038,12162852,11804685,11739018,11692076,11535246,11470991,11219777,11207031,11156380,11154739,10762004,10720750,9855620,9566757,9345314,9034160,9014197,8924211,8912648,8484775,8423770,8363592,8288252,8093002,8033270,8033246,7864863,7695643,16875543,16637266,16575574,16504378,16425401,16418064,16402077,16395669,16380991,16328031,16317586,16284375,16280036,16272171,16232327,16221673,16175316,16141802,16137826,16133548,16103451,16080486,16006997,15987423,15970794,15952058,15949571,15894657,15743503,15632378,15604994,15516026,15489334,15455371,15383623,15377847,15318931,15122594,15093672,15090717,14973106,14871892,14688021,14648207,14643027,14642079,14618622,14520706,12867492,12867416,12814450,12761191,12725421,12477932,12471039,7581483 1581436,1581437,1581438,1581439,1581441,1581442,1581446,1581447,1581448,1581449,1581451,1581452,1581453,1581454,1581455,1625563 6817 NM_177534,NM_177530,NM_177529,NM_001055,AC020765,L15346,U37025,U52852,U54701,U71086,AB062428,AB209149,AJ007418,AL558375,BC000923,BC110887,NM_177536,BT007324,CR601418,CR606821,CR608214,CR618607,L10819,L19955,L19999,U09031,U26309,X78283,X84654 NP_803880,NP_803878,NP_803566,NP_803565,NP_001046,AAA60595,AAB09759,AAC51816,AAC50480,AAB09597,BAB93491,BAD92386,CAA07495,AAH00923,AAI10888,AAP35988,AAA35562,AAA02935,AAA99892,AAA18613,AAA67895,CAA55089,CAA59147,P50225,Q59GG0,Q9UMT9,ABM81921,ABM85098 Hs.567342 GDB:138288 HAST1/HAST2|MGC131921|MGC5163|P-PST|PST|ST1A3|STP|STP1|TSPST1 sulfotransferase family 1a, phenol-preferring, member 1 protein-coding 68509 SULT1A2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. 1300048,1580863 9119390,18259693,17425406,16133548,12477932,12469224,12419832,12373301,11535246,11207031,11154739,10762004,10720750,10617600,9566757,9034160,8912648,8697101,8661000,8033246,7889867,7581483 6799 NM_001054,NM_177528,AC020765,U33886,U34804,U72202,U76619,BC025763,BC052280,BC113727,BC113729,U28169,U28170,X78282 NP_001045,NP_803564,AAC51149,AAB09758,AAB08970,AAB18753,AAI13728,AAI13730,AAB09658,AAB09659,CAA55088,P50226,Q14CJ7 Hs.546304 GDB:629968 HAST4|MGC142287|MGC142289|P-PST|ST1A2|STP2|TSPST2 sulfotransferase family 1a, member 2 protein-coding 1347398 SULT1A3 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Exons of this gene overlap with exons of a gene that encodes a protein containing GIY-YIG domains (GIYD1). Three alternatively spliced variants that encode the same protein have been described. 1580863 12477932,12424257,12228221,11535246,11154739,10720750,10617600,10608851,10543947,10336855,9034160,8912648,8661000,8363592,8187949,8117269,8093002,7961757,7829089,7802665,7695643,7695637,17963788,17425406,17002600,16083857,15752422,15489334,15358107,14871892,14702039,14622112,12761191 6818 NM_001017387,NM_003166,NM_177552,NG_005305,AC106782,U08099,U20499,U37686,AB111093,AB111094,AB111095,AB111096,AB111097,AB111098,AB111099,AI672638,AK094769,AK097386,AK122707,AK122733,BC014471,BC078144,BC111011,L19956,L25275,U08032,U34199,X84653 NP_001017387,NP_003157,NP_808220,AAA82126,AAA64490,AAA86536,BAE94927,BAE94928,BAE94929,BAE94930,BAE94931,BAE94932,BAE94933,BAC85507,AAH14471,AAH78144,AAI11012,AAA02943,AAA36523,AAA17723,AAC99987,CAA59146,P50224,Q1ET61,Q1ET62,Q1ET63,Q1ET64,Q1ET65,Q1ET66,Q2TAB3,AAI41505,AAI56740 Hs.460587 GDB:342103 HAST|HAST3|M-PST|MGC117469|ST1A5|STM|SULT1A4|TL-PST protein-coding 1604886 SULT1A4 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Exons of this gene overlap with exons of a gene that encodes a protein containing GIY-YIG domains (GIYD2). Three alternatively spliced variants that encode the same protein have been described. 8117269,8363592,17425406,15752422,15358107,11154739,10720750,9034160,7961757 445329 NM_001017391,NM_001017389,NM_001017390,NG_005304,AC133555,L34160,AB111093,AB111094,AB111095,AB111096,AB111097,AB111098,AB111099,AK094769,AK097386,AK122707,AK122733,BC014471,BC078144,BC111011,L19956,L25275,U08032,U34199,X84653 NP_001017391,NP_001017389,NP_001017390,BAE94927,BAE94928,BAE94929,BAE94930,BAE94931,BAE94932,BAE94933,BAC85507,AAH14471,AAH78144,AAI11012,AAA02943,AAA36523,AAA17723,AAC99987,CAA59146,P50224 Hs.460558,Hs.460587 protein-coding 1354463 SULT1B1 sulfotransferase family, cytosolic, 1B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. However, the total genomic length of this gene is greater than that of other SULT1 genes. 1299514 9463486,9443824,17425406,16804942,15489334,12477932,11688987,11535246,11368519,11154739,10720750,9034160 1299514 27284 NM_014465,AC125239,AF184894,CH471057,BC010895,D89479,U95726 NP_055280,AAF05917,EAX05595,AAH10895,BAA24547,AAB65154,O43704 Hs.129742 GDB:11507982 MGC13356|ST1B2|SULT1B2 protein-coding 1314184 SULT1C2 sulfotransferase family, cytosolic, 1C, member 2 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 9169148,17425406,16804942,16507781,15489334,12477932,11740338,11535246,11154739,11077054,10783263,10720750,10481272,9852044,9635888,9034160,7642552,16189514 6819 NM_176825,NM_001056,AC019100,AF186262,CH471182,AA856596,AB008164,AF026303,AF186251,AF186252,AF186253,AF186254,AF186255,AF186256,AI986284,AL832145,BC005353,BM849361,BT006951,R86241,U66036 NP_789795,NP_001047,AAY14790,AAF72805,AAF72806,EAW53889,EAW53890,BAA28346,AAC00409,AAF72799,AAF72800,AAF72801,AAF72802,AAF72803,AAF72804,AAH05353,AAP35597,AAC51285,O00338,Q53SG4 Hs.436123 GDB:5584268 ST1C1|ST1C2|SULT1C1|humSULTC2 sulfotransferase family, cytosolic, 1c, member 1 protein-coding 1606856 SULT1C3 sulfotransferase family, cytosolic, 1C, member 3 17425406,15815621,14676822 442038 NM_001008743,AC019100,BK001432 NP_001008743,DAA01771,Q6IMI6,AAI46363 Hs.535156 protein-coding 1347018 SULT1C4 sulfotransferase family, cytosolic, 1C, member 4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. 1580863 9852044,17425406,15815621,12477932,11535246,11154739,10783263,10720750,9034160 27233 NM_006588,AC068941,AF186263,CH471182,DQ987914,BC058861,BC125043 NP_006579,AAY14742,AAF72810,EAW53885,EAW53886,ABI75348,AAH58861,AAI25044,O75897,Q069I8,Q08AS5,Q6PD90 Hs.312644 GDB:9958203 MGC149521|MGC34422|SULT1C|SULT1C2 protein-coding 1605577 SULT1D1P sulfotransferase family, cytosolic, 1D, member 1 pseudogene 14676822,11688987 133150 NG_002642,AC108941 SULT1D1 pseudo 1351097 SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. 1580863 8185618,18318428,17661084,17425406,17372239,17293380,17187396,16985250,16969590,16418064,16189514,16169070,15894657,15489334,15355916,15188402,14556660,14507642,12782487,12477932,11884392,11688987,11535246,11154739,10720750,10541560,9348232,9034160,8971138,8603401,8530066,7961757,7779757 6783 NM_005420,AC108941,AY436634,CH471057,U20521,BC027956,CR407621,S77383,U08098,U55764,Y11195 NP_005411,AAQ97179,EAX05597,AAC50286,AAH27956,CAG28549,AAB34601,AAA82125,AAB51658,CAA72079,P49888,Q53X91 Hs.479898 EST|EST-1|MGC34459|STE protein-coding 1344997 SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene is primarily expressed in liver and adrenal tissues where the encoded protein sulfates steroids and bile acids. 1580863 11988089,11950791,11535246,11172807,10854859,10775806,10720750,10541560,9034160,8575776,8299591,8142314,7736787,7710689,7678732,7598806,7589785,2268288,1569919,1520333,1588921,18042734,17426092,17425406,17276571,16617014,16469813,16360722,15878968,15713538,15489334,15388788,14573603,12477932,12399026,12167565,11990382 6822 NM_003167,AC024582,AC124853,CH471126,EU522670,L36196,U13061,AK289380,BC020755,BG563083,CR608228,L02337,L20000,S43859,S43861,U08024,U08025,X70222,X84816 NP_003158,EAW57516,EAW57517,ACB21041,AAA75491,AAC51353,BAF82069,AAH20755,AAA35758,AAB23169,AAA17749,AAA17750,CAA49755,CAA59274,Q06520,ABM82091,ABM85272 Hs.515835 GDB:132655 DHEA-ST|DHEAS|HST|ST2|ST2A3|STD|hSTa protein-coding 1318906 SULT2B1 sulfotransferase family, cytosolic, 2B, member 1 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. 11594786,11535246,11457664,11154739,10720750,9034160,9799594,12145317,11416019,17626250,17496163,17425406,17347498,16189514,15953604,15878639,15489334,15140224,15063762,15057824,14741047,14702039,14676143,12923182,12477932,12399026 6820 NM_177973,NM_004605,AC008403,CH471177,U92316,U92317,U92318,U92319,U92320,U92321,U92322,AK096418,BC034694,U92314,U92315 NP_814444,NP_004596,EAW52354,EAW52355,AAC78554,AAC78553,AAH34694,AAC78498,AAC78499,O00204 Hs.369331 GDB:9864453 HSST2 protein-coding 736677 SULT4A1 sulfotransferase family 4A, member 1 This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. 68861,1580863 12529303,12477932,12039030,11535246,11154739,10720750,10591208,9034160,10698717,17425406,16152568,15489334,15461802,14702039,14623933 68861 25830 NM_014351,AL832543,CH471138,Z97055,AF115311,AF176342,AF188698,AF251263,AK091700,AL590119,BC022459,BC028171,BC030665,CR456588 NP_055166,EAW73317,EAW73318,EAW73319,EAW73320,CAB09788,AAF21970,AAK64595,AAF61197,AAF98152,CAC34872,AAH22459,AAH28171,AAH30665,CAG30474,Q9BR01,CAK54619,CAK54918,ABM83299,ABM86509 Hs.189810 GDB:11507984 BR-STL-1|BRSTL1|DJ388M5.3|MGC40032|NST|SULTX3|hBR-STL-1 protein-coding 1626598 SULT6B1 sulfotransferase family, cytosolic, 6B, member 1 17425406,15815621,14676822 391365 NM_001032377,AC007899,BK001437,CH471053,AY289770,AY289771,AY289772,AY289773,AY289774,AY289775,BC140797 NP_001027549,DAA01772,EAX00405,AAI40798,Q6IMI4 Hs.631892 protein-coding 1320552 SUMF1 sulfatase modifying factor 1 Sulfatases catalyze the hydrolysis of sulfate esters such as glycosaminoglycans, sulfolipids, and steroid sulfates. C-alpha-formylglycine (FGly), the catalytic residue in the active site of eukaryotic sulfatases, is posttranslationally generated from a cysteine by SUMF1, the FGly-generating enzyme (FGE), in the endoplasmic reticulum (ER). The genetic defect of FGly formation caused by mutations in the SUMF1 gene results in multiple sulfatase deficiency (MSD; MIM 272200), a lysosomal storage disorder (Roeser et al., 2006 [PubMed 16368756]).[supplied by OMIM] 1599192,1580863 18157819,17932120,17657823,17446859,17206939,16368756,16303743,15962010,15907468,15657036,15489334,15146462,14702039,12975309,12757706,12757705,12477932 1599192 285362 NM_182760,AC024168,AC034191,CH471055,CQ866665,AK057983,AK075459,AK094111,AY208752,AY323910,AY358092,BC017005,BC110862,BC121122,BC121123,BG705404,CR615481 NP_877437,EAW63906,EAW63907,CAH25965,BAB71625,BAC11634,AAO34683,AAP86217,AAQ88459,AAH17005,AAI10863,AAI21123,AAI21124,Q0VAC6,Q8NBK3 Hs.588682 AAPA3037|FGE|MGC131853|MGC150436 protein-coding 1349479 SUMF2 sulfatase modifying factor 2 The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 16344560,16303743,15962010,15708861,15687489,15489334,15342556,15231748,14563551,12975309,12853948,12757706,12757705,12477932,8889548,16189514,18266766 25870 NM_001042469,NM_001042470,AC092101,CH471140,CS051309,NM_015411,NM_001042468,AF075046,AK075477,AL050037,AY323911,AY359103,BC000224,BC006159,BC015600,BC065222,BC084539,BC111092,BM423367,BP296294,CF131206,CR594356,CR602256,CR616604,CR622221,CR936749,CR936757,DA917807,DA924174,DB010869 NP_001035934,NP_001035935,AAS07452,EAX07975,EAX07976,EAX07977,EAX07978,EAX07979,EAX07980,EAX07981,EAX07982,EAX07983,EAX07984,EAX07985,EAX07986,NP_001035933,NP_056226,CAI72149,BAC11643,CAB43247,AAP86218,AAQ89461,AAH00224,AAH06159,AAH15600,AAH65222,AAH84539,AAI11093,Q75LP3,Q8NBJ7 Hs.279696 DKFZp566I1024|DKFZp66I1024|DKFZp686L17160|DKFZp781L1035|MGC99485|pFGE protein-coding 1315807 SUMO1 SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. 1642482 9885291,12072434,14516784,17081985,8812453,15572661,15637059,9019411,8806687,18093978,17976381,17932034,17671677,17509614,17466333,17360386,17320104,17164289,17081983,17060459,17027752,16990542,16955485,16904644,16712526,16690127,16678795,16651613,16600910,16568089,16563226,16524884,16501610,16494873,16484498,16478998,16478538,16475184,16464864,16460827,16443219,16442531,16428860,16428803,16428449,16415059,16352666,16204249,16189514,16154161,16125395,16122737,16120648,16117725,16112644,16055710,15959518,15958389,15931224,15923626,15907800,15882793,15881673,15857832,15823533,15815621,15788563,15782135,15723079,15660128,15608651,15507114,15489334,15487983,15456902,15355965,15337742,15296745,15272016,15229220,15220454,15123625,15064418,15037602,15016812,14992729,14752048,14637113,14609633,14563852,14559918,14527952,14514699,14500761,14500712,12924945,12855578,12832072,12810706,12788062,12769861,12761214,12727872,12679040,12665592,12663783,12646186,12633878,12631292,12626745,12621041,12615929,12590135,12565818,12552083,12529333,12526767,12511558,12477932,12439742,12419227,12393906,12383504,12354770,12297306,12223491,10212234,10187798,9891849,9756909,9740801,9734360,9654451,9465300,9442102,9162015,9119407,8978815,8921390,8906799,8889548,15613319,17353931,17848550,10217437,14701874,10187858,11739688,11129635,12606074,11907324,15592428,15546615,10535925,10788439,9920803,12200128,12193561,12177000,12161447,12150977,12149243,12144530,12060666,12032081,11997515,11960997,11948183,11889051,11867732,11842245,11792325,11735126,11731474,11709553,11583632,11514557,11500040,11420669,11384992,11313457,11278381,11112409,11080164,11078523,10964520,10961991,10892746,10862613,10799485,10759568,10694430,10655495,10574707 1642482 7341 CR595275,CR610134,CR620649,CR620936,CR621661,CR623467,U38784,U61397,U67122,U72722,U83117,X99586,NM_003352,NM_001005781,AC079354,CH471063,AA401634,AB062294,AI815216,BC005899,BC006462,BC053528,BC066306,BG503431,BG569821,BQ930026,BT006632,BU532734,CA313671,CR542147,CR542156,CR591247,CR591393,CR591769,NM_001005782 AAC50733,AAB40388,AAC50996,AAB40390,AAB39999,CAA67898,P63165,Q0P6I8,ABM84136,ABM87155,NP_001005782,NP_003343,NP_001005781,AAY24035,EAW70304,EAW70305,EAW70306,EAW70307,BAB93477,AAH06462,AAH53528,AAH66306,AAP35278,CAG46944,CAG46953 Hs.81424 DAP-1|GMP1|OFC10|PIC1|SENP2|SMT3|SMT3C|SMT3H3|SUMO-1|UBL1 smt3 suppressor of mif two 3 homolog 1 (yeast) protein-coding 1601685 SUMO1P1 SUMO1 pseudogene 1 12477932,12383504,9465300 391257 NR_002189,AC005220,BC065723 Hs.449977 pseudo 1603799 SUMO1P2 SUMO1 pseudogene 2 12383504,9465300 474337 NG_004725,AL135926 bA375F2.1 pseudo 1601782 SUMO1P3 SUMO1 pseudogene 3 12383504,9465300,8889549 474338 NR_002190,AL513282 pseudo 1603798 SUMO1P4 SUMO1 pseudogene 4 12383504,9465300 474340 AC011450,NG_004726 pseudo 2292053 SUMO1P5 SUMO1 pseudogene 5 12383504,9465300 474341 AC010493 pseudo 1346569 SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 15383276,18374647,18081309,17164289,17012228,16904644,16626738,16567619,16553580,16524884,16055710,15870296,15489334,15487983,15479240,15456902,15296745,15272016,12924945,12810706,12665592,12590135,12477932,12383504,12161447,11889051,11489887,11451954,11283016,11029585,10692421,9556629,9452416,9373149,9119407,8630065,8125298,16189514 6613 NM_001005849,NM_006937,AC022211,CH471099,AK024823,AK225090,AK225263,BC008450,BC016775,BC022340,BC062713,BC068465,BC070159,BC071645,BC071646,BC107853,BF700114,BG778261,CR597842,CR610257,CR614076,CR620601,CR624759,L76416,X99585 NP_001005849,NP_008868,EAW89249,EAW89250,AAH08450,AAH16775,AAH22340,AAH62713,AAH68465,AAH70159,AAH71645,AAH71646,AAI07854,AAD45399,CAA67897,P61956,ABM83962,ABM87276 Hs.380973,Hs.546298 HSMT3|MGC117191|SMT3B|SMT3H2 smt3 suppressor of mif two 3 homolog 2 (yeast) protein-coding 1350239 SUMO2P SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 285829 NG_002750,AL031983,AL645936,AL662826,AL929591 SMT3Bp|SMT3H2P|dJ271M21 pseudo 1346388 SUMO3 SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) SUMO proteins, such as SUMO3, and ubiquitin (see MIM 191339) posttranslationally modify numerous cellular proteins and affect their metabolism and function. However, unlike ubiquitination, which targets proteins for degradation, sumoylation participates in a number of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability (Su and Li, 2002 [PubMed 12383504]).[supplied by OMIM] 1580863 17000644,17353931,9119407,18374647,17164289,17012228,16626738,16608850,16553580,16154602,16055710,15723523,15489334,15487983,15456902,15296745,12924945,12810706,12511558,12477932,12383504,11997515,11451954,10830953,10692421,9373149,8125298,16189514,14701874,11739688 6612 AK222591,BC000036,BC008420,BT007008,CR542173,CR542188,CR590791,CR590916,CR595623,CR597395,CR599370,CR601502,CR604117,CR606191,CR606419,CR609005,CR609292,CR610020,CR611930,CR612989,CR614323,CR617517,CR619289,CR620451,CR625310,X99584,NM_006936,AL773603,CH471079 CAA67896,P55854,EAX09391,EAX09392,EAX09393,BAD96311,AAH00036,AAH08420,AAP35654,CAG46970,CAG46985,NP_008867,EAX09390 Hs.474005 SMT3A|SMT3H1|SUMO-3 smt3 suppressor of mif two 3 homolog 3 (yeast) protein-coding 1349888 SUMO4 SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae) This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. 18466531,18466472,18330586,17990297,17926234,17660269,17558709,17554341,17459725,17452059,17374705,17373940,17229939,17130565,17130563,17130532,17130530,16821265,16755651,16735488,16306380,16249223,16236267,16198310,16159953,15730420,15678137,15678135,15678134,15247916,15123604,14574404,12901503,8733139,8072542 387082 NM_001002255,AL031133,CH471051,AY340238,BC130305 NP_001002255,CAA20019,EAW47808,AAR04484,AAI30306,Q6EEV6 Hs.657168 GDB:392654 IDDM5|SMT3H4|SUMO-4|dJ281H8.4 smt3 suppressor of mif two 3 homolog 4 (yeast) protein-coding 1352324 SUNC1 Sad1 and UNC84 domain containing 1 12498619,12477932 256979 NM_001030019,NM_152782,AC069279,CH236958,CH471128,AF429967,BC026189,BG772576,BU623138,DQ099386 NP_001025190,NP_689995,EAL23808,EAW60999,EAW61000,AAP97300,AAH26189,AAZ13762,Q8TAQ9 Hs.406741 MGC33329 protein-coding 733312 SUOX sulfite oxidase Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. 1600114,1600121,1580863,1300048 12112661,10519592,9600976,7599189,9428520,17940249,17366837,16475804,16344560,12368985,16229463,16140720,15489334,14729666,14567685,12832761,12763039,12477932,12424234 1600114,1600121 6821 AU121557,AU126450,BC065193,CR610752,L31573,NM_000456,NM_001032386,NM_001032387,AC034102,AY056018,CH471054 EAW96868,EAW96869,EAW96870,EAW96871,AAH65193,AAA74886,P51687,NP_000447,NP_001027558,NP_001027559,AAL08048,EAW96867 Hs.558403 GDB:5584405 protein-coding 1320698 SUPT16H suppressor of Ty 16 homolog (S. cerevisiae) Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit, the latter of which is the protein encoded by this gene. 10421373,12676794,18406329,17209051,17081983,16977311,16902406,16713563,16682447,15616580,15489334,14702039,14660563,14559993,12934006,12837248,12477932,12393879,11239457,10912001,10792464,9836642,9489704,15546612 11198 NM_007192,AL135744,CH471078,AF164924,AK001719,AK024072,AK091676,BC000565,BC012582,BC014046,BC064561,BC073849,BC111402,CR594514,CR612151,CR616669 NP_009123,EAW66386,EAW66387,AAF28231,AAH00565,AAH14046,AAH64561,AAH73849,AAI11403,Q0VGA3,Q9Y5B9 Hs.213724 GDB:3810982 CDC68|FACT|FACTP140|FLJ10857|FLJ14010|FLJ34357|SPT16/CDC68 protein-coding 2289750 SUPT16HP suppressor of Ty 16 homolog (S. cerevisiae) pseudogene 400011 XR_016968,XR_039178,XR_019334 bcm670 pseudo 1313449 SUPT3H suppressor of Ty 3 homolog (S. cerevisiae) 1580863 9787080,9726987,17967894,12660246,12601814,12477932,11564863,11406595,11238933,10373431,9885574,9674425 8464 NM_181356,NM_003599,AL096865,AL138880,AL161905,AL360272,AL391118,AL499610,CH471081,AF069734,AF073930,AF279781,BC035816,BC050384 NP_852001,NP_003590,CAI19927,CAI14625,CAI14627,CAI15663,CAI15664,CAI15666,CAH70845,CAH70846,CAH70848,CAH73344,EAX04274,EAX04275,EAX04276,AAC39904,AAC36098,AAH35816,AAH50384,O75486,Q5U608,Q5VWT9,Q86VN7,ABZ92456 Hs.368325 GDB:9864743 SPT3|SPT3L protein-coding 1314951 SUPT4H1 suppressor of Ty 4 homolog 1 (S. cerevisiae) 9450929,9857195,8649394,12676794,18373978,17502349,16214896,15489334,15380072,15136722,15060154,14702039,12718890,12653964,12612062,12477932,12391174,11553615,11112772,10912001,10757782,10454543,10199401,10075709,8786137 6827 AC004687,CH471109,AK129758,BC002802,CR407663,CR594476,CR594796,CR605018,CR605330,CR613341,CR616121,CR620477,CR622557,U38817,U38818,NM_003168,U43923 NP_003159,EAW94464,EAW94465,EAW94466,EAW94467,BAC85230,AAH02802,CAG28591,AAB18675,AAB18674,AAB07814,P63272,ABZ92239 Hs.439481 GDB:697095 SPT4H|SUPT4H protein-coding 1348806 SUPT4H2 suppressor of Ty 4 homolog 2 (S. cerevisiae) 6828 GDB:6045459 1346289 SUPT5H suppressor of Ty 5 homolog (S. cerevisiae) 1580863 10075709,9450929,9512541,9790902,12676794,17502349,17081983,16427012,16344560,16214896,16169070,15620346,15564463,15489334,15380072,15342556,15231748,15136722,15060154,14702039,14701750,14580347,12718890,12653964,12612062,12477932,12391174,11940650,11809800,11575923,11553615,11145967,11112772,10912001,10757782,10454543,10421630,10393184,10199401,9857195,9514752,9199507,9110174,8975720,8619474 6829 NM_003169,NM_001111020,AC011500,CH471126,AB000516,AB209257,AF040253,AF052165,AK091476,BC024203,BP199253,CR609373,CR623112,DB064517,U56402,Y12790 NP_003160,NP_001104490,EAW56896,EAW56897,EAW56898,EAW56899,EAW56900,BAA24075,BAD92494,AAD02179,AAH24203,AAC51102,CAA73326,O00267,ABM87794 Hs.631604 GDB:697130 FLJ34157|SPT5|SPT5H protein-coding 1319556 SUPT6H suppressor of Ty 6 homolog (S. cerevisiae) 8786132,17081983,15489334,15060154,12477932,9514752,9480761,9110174,8724849,8619474 6830 NM_003170,AC010761,CH471159,AF070532,AK126585,AL833607,BC003692,BC003696,BC017105,BC033074,BC073963,BC136522,BC136524,BC150268,D79984,U38623,U38658 NP_003161,EAW51116,EAW51117,EAW51118,EAW51119,AAC28631,AAH03692,AAH03696,AAH17105,AAH33074,AAH73963,AAI36523,AAI36525,AAI50269,BAA11479,AAC99996,AAB18949,Q7KZ85 Hs.250429 GDB:697131 KIAA0162|MGC87943|SPT6|SPT6H|emb-5 protein-coding 1602227 SUPT7L suppressor of Ty 7 (S. cerevisiae)-like 15870280,10987294,18250150,15815621,15728473,15561718,15489334,12477932,11564863,9872452 9913 NM_014860,AC074091,CH471053,AB018307,AF197954,AF224759,AK000329,AK000616,BC045638,BC074000,CR456983,CR616333,CR624870 NP_055675,AAX93202,EAX00556,BAA34484,AAG28523,AAG47636,AAH74000,CAG33264,O94864 Hs.6232 ART1|KIAA0764|MGC90306|SPT7L|STAF65|STAF65(gamma) protein-coding 1313667 SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae) 1580863 12466530,9925937,17961633,17373700,17352692,16176273,15919122,15096047,12477932,11154739,7566098 6832 NM_003171,AL596223,CH471083,AF042169,AK290416,BC036112,CR626248 NP_003162,CAH71498,CAH71499,EAW54314,EAW54315,AAB97370,BAF83105,AAH36112,Q8IYB8,ABM81930,ABM85109 Hs.106469 GDB:9835019 SUV3 protein-coding 732036 SURF1 surfeit 1 This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. 1599193,1580863 12515039,12477932,11955926,11579424,11317352,10746561,10647889,10556303,9740673,8499913,7702754,9843204,17908801,16806233,16083427,15764605,15489334,15214016,14607829,14557577,12812953,12538779 1599193 6834 NM_003172,NG_000837,AC002107,AL158826,CH471090,Y17212,AK291122,BC028314,BC071658,BM542342,Z35093 NP_003163,CAI12836,CAI12837,EAW88067,CAA76689,BAF83811,AAH28314,AAH71658,CAA84476,Q5T8T3,Q5T8T4,Q9UE08,ABM81749,ABM84903,Q15526 Hs.512464 GDB:120394 protein-coding 1345081 SURF2 surfeit 2 This gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. The gene shares a bidirectional promoter with SURF1, which is located on the opposite strand. The function of the encoded protein from this housekeeping gene has not yet been determined. 17081983,15489334,12477932,9740673,8499913,7702754 6835 NM_017503,NG_000837,AC004530,AL158826,CH471090,Y17214,BM789997,BC014411,CR456753,Z35094 NP_059973,CAI12838,EAW88068,EAW88069,EAW88070,AAH14411,CAG33034,CAA84477,Q15527,Q6IBP9,ABM83521,ABM86745 Hs.159448 GDB:120395 SURF-2 protein-coding 1322534 SURF4 surfeit 4 This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein containing multiple putative transmembrane regions. In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). The specific function of this protein has not been determined but its yeast homolog is directly required for packaging glycosylated pro-alpha-factor into COPII vesicles. This gene uses multiple polyadenylation sites, resulting in transcript length variation. The existence of alternatively spliced transcript variants has been suggested, but their validity has not been determined. 1580863 15308636,16381901,15489336,15489334,12477932,11230166,11076863,10931946,9740673,8499913,7540914,17353931 6836 NM_033161,NG_000837,AC004530,AL158826,CH471090,Y17214,AF078866,AK026646,BC018741,BC111023,BM148022,BX647961,CR597826,CR600443,CR600613,CR601022,CR602588,CR607990,Y14820,AF078867 NP_149351,CAI12839,CAI12840,CAI12841,EAW88071,EAW88072,EAW88073,EAW88074,CAA76692,AAD44498,AAD44499,AAH18741,AAI11024,CAA75099,O15260,Q5T8U5,Q5T8U6,Q5T8U7,CAL37785,ABM82950,ABM86142 Hs.696048 GDB:120396 ERV29|FLJ22993|MGC102753 protein-coding 1316549 SURF6 surfeit 6 This gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. The gene demonstrates features of a housekeeping gene, being ubiquitously expressed, and the encoded protein has been localized to the nucleolus. The protein includes motifs found in both the mouse and fish orthologs, which suggests a putative function as a nucleolar-matrix protein with nucleic acid-binding properties, based on characteristics determined in mouse. 1580863 10675619,15635413,15489334,14702039,12477932,11891058,11790298,9740673,9548374,8889548,8639267,8499913 6838 NM_006753,NG_000837,AC002107,AF186772,AJ224639,AL158826,CH471090,AI085033,AK054884,BC003001,BC006197,BC014878,BM451240,BM676548,CD104374,CR599878,CR617292,CR617587,CR618042,CR626491 NP_006744,AAD56587,CAA12054,CAI12825,EAW88055,AAH03001,AAH06197,AAH14878,O75683,Q5T8U1 Hs.274430 GDB:9836968 FLJ30322 protein-coding 1315881 SUSD1 sushi domain containing 1 737633 16263699,15489334,15231748,15164053,14702039,12975309,12477932 737633 64420 NM_022486,AL138756,AL158824,CH471105,AK025486,AK056704,AK292868,AL137432,AY358746,BC021125,BC052314,BC060770,BX362255 NP_071931,CAI95299,CAI95300,CAI95301,EAW59093,EAW59094,EAW59095,EAW59096,EAW59097,EAW59098,BAB15149,BAB71259,BAF85557,CAB70735,AAQ89106,AAH21125,AAH52314,AAH60770,Q4VXJ3,Q6UWL2 Hs.494827 RP11-4O1.1 protein-coding 1318458 SUSD2 sushi domain containing 2 737633 17353931,16335952,15489334,14702039,12477932,10591208 737633 56241 NM_019601,AP000353,CH471095,Z92546,AK026431,AK126105,BC033107,BI822588 NP_062547,EAW59641,EAW59642,CAB62953,BAB15481,AAH33107,Q9UGT4 Hs.131819 BK65A6.2|FLJ22778 protein-coding 2290509 SUSD2P1 sushi domain containing 2 pseudogene 1 729450 XR_015550 pseudo 1322117 SUSD3 sushi domain containing 3 737633 15489334,15164053,12975309,12477932 737633 203328 NM_145006,AL451065,CH471089,AK128289,AY358190,BC014601,BC041834 NP_659443,CAI95108,EAW62848,EAW62849,BAC87370,AAQ88557,AAH14601,AAH41834,Q6ZRE0,Q96L08,ABM84950,ABW03639 Hs.88417 MGC26847 protein-coding 1605987 SUSD4 sushi domain containing 4 16344560,14702039,12975309,12477932 55061 NM_017982,NM_001037175,AL359733,AL359979,CH471100,AK000914,AK096265,AY358495,BC004888,BF446433,DA125047,EF560748 NP_060452,NP_001032252,CAH73991,CAH73992,EAW93257,EAW93258,EAW93259,EAW93260,EAW93261,BAA91421,AAQ88859,AAH04888,ABQ59058,Q5VX71 Hs.497841 FLJ10052|PRO222|RP11-239E10.4 protein-coding 1607061 SUSD5 sushi domain containing 5 16641997,9628581 26032 NM_015551,AC123900,AB011099 NP_056366,BAA25453,O60279 Hs.196647 KIAA0527 protein-coding 1348120 SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) This gene is a member of the suppressor of variegation 3-9 homolog family and encodes a protein with a chromodomain and a C-terminal SET domain. This nuclear protein moves to the centromeres during mitosis and functions as a histone methyltransferase, methylating Lys-9 of histone H3. Overall, it plays a vital role in heterochromatin organization, chromosome segregation, and mitotic progression. 1580863 10949293,10202156,11242053,12711603,17657744,17245432,17172641,17081983,15772651,15489334,15220403,15120635,15107829,14765126,12917624,12789259,12723694,12711675,12588981,12565857,12477932,12242305,12101246,11867540,11788710,11533237,11484059,11252719,10873456,10848615,10779362,10671371,9373149,8125298,7760804,16189514,16858404,16818776,16652147,16519522,16449642,16409643,16103223 6839 CH471224,AF019968,AK223071,AW327567,BC006238,BG024540,CR541746,CR595067,CR609770,L08238,NM_003173,A58331,AF196970 EAW50756,EAW50757,AAB92224,BAD96791,AAH06238,CAG46546,AAA59592,O43463,Q14828,ABM83534,ABM86774,NP_003164,CAA03483 Hs.522639 GDB:1220110 KMT1A|MG44|SUV39H protein-coding 1315884 SUV39H2 suppressor of variegation 3-9 homolog 2 (Drosophila) 1359810,1580863 8125298,10949293,18231586,16774942,16189514,15489334,15164054,15107829,14765126,14702039,12477932,11094092,9373149 1359810 79723 NM_024670,AC069544,AL360083,CH471072,AK027067,AK222565,AK225369,AL834488,BC007754,BC029360,CR457372,CR590158,CR600204,CR602124,CR607132,CR615952 NP_078946,CAI40028,CAI40029,CAI40030,CAI40031,CAI40032,EAW86253,EAW86254,EAW86255,EAW86256,EAW86257,BAB15645,CAD39146,AAH07754,AAH29360,CAG33653,Q53HL5,Q5JSS2,Q5JSS4,Q9H5I1,ABM87014,ABW03850 Hs.554883 FLJ23414|KMT1B protein-coding 1348608 SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila) This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Two alternatively spliced transcript variants have been found for this gene. 9373149,8889548,8125298,17353931,16322686,15489334,14702039,12477932,11401438,10810093 51111 NM_017635,NM_016028,AP002992,CH471076,AF151843,AF264782,AI659791,AK000046,AK025183,AK025461,AK026428,AK225203,AL512763,BC012933,BC065287,BC087834,BC098121,BC099714,BC103498,BC104483,BC108304,BG697990,BM152996,BM719058,CR590861,CR598995,BC002522 NP_060105,NP_057112,EAW74697,EAW74698,EAW74699,EAW74700,EAW74701,AAD34080,AAG36937,BAA90905,CAC21680,AAH02522,AAH12933,AAH65287,AAH87834,AAH98121,AAH99714,AAI03499,AAI04484,Q4FZB7 Hs.632120 CGI-85|CGI85|KMT5B|MGC118906|MGC118909|MGC21161|MGC703 protein-coding 1346503 SUV420H2 suppressor of variegation 4-20 homolog 2 (Drosophila) 737633 17672918,16322686,15498874,15489334,12477932 737633 84787 NM_032701,AC020922,CH471135,AF289582,BC005842,BC019313,BC044889,CR612424 NP_116090,EAW72364,EAW72365,EAW72366,AAL55766,AAH05842,AAH19313,AAH44889,Q86Y97 Hs.590982 KMT5C|MGC2705 protein-coding 1344509 SUZ12 suppressor of zeste 12 homolog (Drosophila) This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. The specific function of this gene has not yet been determined. 1580863 17632510,17542650,17406994,17197920,17081983,16712789,16630818,16224021,15489334,15302935,15257518,15225548,15043312,12843325,12477932,12435631,12351676,11564866,11546753,11371647,8590280,14536086,15385962,18077430,17970752,17667554 23512 NM_015355,AC090616,AC129917,CH471147,AK074333,AK290014,BC015704,BC018583,D63881 NP_056170,EAW80258,BAF82703,AAH15704,BAA09931,Q15022 Hs.462732 CHET9|JJAZ1|KIAA0160 protein-coding 1604136 SUZ12P suppressor of zeste 12 homolog pseudogene 12477932 440423 BC041912,BC047718,NG_005675,AC127024 AAH47718,Q86WX1 Hs.628886 pseudo 1604842 SV2A synaptic vesicle glycoprotein 2A 15489336,15489334,15210974,12477932,11230166,11076863,10617638,10611374,9872452,7681585,1519064,11256614,16710414,16381901,16303743,15822905 9900 NM_014849,AL591493,CH471121,AB018279,AK075480,BC000776,BC034038,BC045111,BX537754 NP_055664,CAI12572,CAI12573,EAW53596,EAW53597,EAW53598,BAA34456,BAC11645,AAH00776,AAH45111,CAD97824,Q0JSQ9,Q7L0J3,CAL38455 Hs.516153 KIAA0736|SV2 protein-coding 1343420 SV2B synaptic vesicle glycoprotein 2B 634183 15466855,12477932,10624962,9872452,9110174,8619474,7681585,15489334,18367154 634183 9899 NM_014848,AC123784,AC127520,CH471101,CQ819357,AB018278,AF052188,AL110287,BC030011,CR457086 NP_055663,EAX02143,CAG34346,BAA34455,AAH30011,CAG33367,Q7L1I2,ABM82540,ABW03391 Hs.592018 HsT19680|KIAA0735 protein-coding 1346779 SV2C synaptic vesicle glycoprotein 2C 634114 15489334,14702039,12477932,10470851,9801366,15466855 634114 22987 NM_014979,AC026774,AC108091,AC113404,CH471084,CQ819359,AB028977,AK094917,BC100824,BC100825,BC100826,BC100827 NP_055794,EAW95771,EAW95772,CAG34347,BAA83006,AAI00825,AAI00826,AAI00827,AAI00828,Q496J9 Hs.663229 MGC118874|MGC118875|MGC118876|MGC118877 protein-coding 1350967 SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 16206243,14702039,12477932,11062057,10737800 79987 NM_153366,AL158158,AL354982,AL592463,AJ619977,AK023591,AK027870,AK075200,AK075234,AK075235,AK122605,AL832416,AY243503,AY916667,BC030816,BC039727,BC047729,BF368046,BU077276,BX106110,BX537918,BX538049,CR608856,CX165144,DR008048,DV080389 NP_699197,CAI14068,CAI14071,CAF04067,BAB14617,BAB55420,BAC11489,AAQ89957,AAX12481,AAH30816,CAD97901,CAD97988,Q4LDE5 Hs.522334,Hs.606771 C9orf13|CCP22|FLJ16013|FLJ90719|POLYDOM|SEL-OB|SELOB chromosome 9 open reading frame 13 protein-coding 1314924 SVIL supervillin This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Two transcript variants encoding different isoforms of supervillin have been described. 1580863 12711699,9867483,17925381,17081983,16880273,15383618,15324660,15302935,14702039,12917436,12477932,12202484,11977079,11792840,11707406,10362542,9382871 6840 NM_003174,NM_021738,AL158167,AL159170,AL160060,CH471072,AF051850,AF051851,AF109135,AI028650,AK001792,AL117410,BC092440,BX457194,BX648589,CR613317 NP_003165,NP_068506,CAI15236,CAI15237,CAH71300,CAH71301,EAW86018,EAW86019,EAW86020,AAC64695,AAC64696,AAD14682,CAH56399,AAH92440,CAH56147,O95425,Q569J5,Q63HL8,Q659E9 Hs.499209,Hs.697793 GDB:9836825 DKFZp686A17191 protein-coding 732263 SVOP SV2 related protein homolog (rat) 12477932 55530 NM_018711,AC087893,CH471054,CQ819361,AL359592,BC033587,BC094722 NP_061181,EAW97839,EAW97840,EAW97841,CAG34348,CAB94878,AAH33587,AAH94722,Q8N4V2 Hs.4221 DKFZp761H039 protein-coding 1603906 SVOPL SVOP-like 17714910,12477932 136306 NM_174959,AC013429,AC020983,CH236950,CH471070,BC036796,BX648789 NP_777619,EAW83887,EAW83888,EAW83889,EAW83890,AAH36796,Q8N434 Hs.99414 MGC46715 protein-coding 1352606 SVS1 seminal vesicle secretion 1 6841 GDB:341908 1343293 SVS2 seminal vesicle secretion 2 634192 634192 6842 J05443 GDB:341909 1346414 SVS8 seminal vesicle secretion 8 12354160 337958 AF055981 GDB:11510875 1604631 SWAP70 SWAP-70 protein 17371938,16547421,16418221,16344560,15489334,14702039,12925760,12477932,11726218,10681448,9734811,16189514,9642267,12421765 23075 NM_015055,AC011979,AC026250,CH471064,AB014540,AF134894,AF161439,AF210818,AK027131,AK096859,AL110154,BC000134,BC000616,DA413747 NP_055870,EAW68582,EAW68583,EAW68584,EAW68585,BAA31615,AAF61403,AAF28999,AAF24486,AAH00616,Q9UH65 Hs.153026 GDB:9954740 FLJ39540|HSPC321|KIAA0640|SWAP-70 protein-coding 1353710 SYAP1 synapse associated protein 1, SAP47 homolog (Drosophila) 17081983,16964243,15489334,15302935,14702039,12549212,12477932,11483580,9373149,8125298 94056 NM_032796,AL445467,CH471074,AF168955,AF305828,AF338728,AK027401,AK126173,AK222856,BC001468,BC014657,CR614733,CR749849 NP_116185,CAI40087,EAW98917,AAK81893,AAK55531,AAK69273,BAB55087,BAC86472,BAD96576,AAH14657,CAH18697,Q53GS5,Q68CP1,Q6ZTV7,Q96A49 Hs.659466 GDB:11508834 DKFZp686K221|FLJ14495|FLJ44185|PRO3113 protein-coding 1352832 SYCE1 synaptonemal complex central element protein 1 737633 15944401,15489334,15164054,12477932,11829491 737633 93426 NM_201564,AL161645,AY028079,CH471211,AY027807,AY027808,BC034821,CR609441,NM_130784 NP_570140,NP_963858,CAH70048,AAK21976,EAW61359,EAW61360,AAK14796,AAK14797,AAH34821,Q8N0S2 Hs.553795 C10orf94|RP11-108K14.6|bA108K14.6 protein-coding 1603348 SYCE2 synaptonemal complex central element protein 2 15944401,17339376,15489334,15057824,14702039,12477932 256126 NM_001105578,AC092069,AD000092,AK097443,BC035819,CR620067,DB449708 NP_001099048,AAH35819,Q6PIF2 Hs.655173 CESC1 protein-coding 1604473 SYCN syncollin 12477932,11839820 342898 NM_001080468,AC011443,AK130951,BC039541,BC121075,BC121076 NP_001073937,AAI21076,AAI21077,Q0VAF6 Hs.124123 FLJ27441|INSSA1|SYL protein-coding 1347800 SYCP1 synaptonemal complex protein 1 1580863 1464329,15944401,16030183,12477932,11149944,9560255,9371398,9119375 6847 NM_003176,AL358372,AL645502,CH471122,AA868393,AF273043,BC026162,BC065190,BC105299,BC126266,BG772129,D67035,X95654 NP_003167,CAH72847,CAH72848,CAH70064,EAW56621,EAW56622,EAW56623,EAW56624,AAG34903,AAI05300,AAI26267,BAA22586,CAA64956,Q15431,Q3MHC4,Q5VT04,Q5VXJ5,Q9H2G7 Hs.112743 GDB:5584379 HOM-TES-14|MGC104417|SCP1 protein-coding 1347912 SYCP1L2 synaptonemal complex protein 1-like 2 6848 GDB:5584380 1351298 SYCP1L3 synaptonemal complex protein 1-like 3 6849 GDB:5584381 69483 SYCP2 synaptonemal complex protein 2 The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. 69387,1580863 9592139,10341103,12477932,11780052 69387 10388 NM_014258,AL109928,AL158092,CH471077,AL080226,BC040566,BC132864,BC132870,BC146798,BQ575787,BX648091,BX649108,Y08982 NP_055073,CAC36022,EAW75426,EAW75427,CAB45780,AAH40566,AAI32865,AAI32871,AAI46799,CAA70171,Q8IWA1,Q9BX26 Hs.202676 GDB:9958838 SCP2 protein-coding 1604969 SYCP2L synaptonemal complex protein 2-like 16344560,12477932 221711 NM_001040274,AL121955,AL357497,CH471087,AI027433,AK128130,AM293674,BC012225,DA620756 NP_001035364,CAI22075,CAI16226,EAW55288,BAC87288,CAL25570,AAH12225,Q5T4T6 Hs.95600 C6orf177|NO145|dJ62D2.1 protein-coding 733070 SYCP3 synaptonemal complex protein 3 1580863 15218256,14643120,18256545,17434513,17085434,16824523,16213863,15489334,14702039,12759374,12477932,12213195,11591653,10854409,10678170 50511 NM_153694,AC063950,CH471054,AF492003,AF517774,AI015251,AK125930,BC062662,BQ428625 NP_710161,EAW97678,EAW97679,EAW97680,EAW97681,AAN06611,AAP47204,AAH62662,Q8IZU3 Hs.506504 GDB:11507986 COR1|MGC71888|SCP3 protein-coding 1602201 SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 14702039,12477932 85360 NM_033025,AC004794,CH471106,AF209931,AK023573,AK123686,AK128870,BC018942,BC029926 NP_149014,AAC18917,EAW84461,EAW84462,EAW84463,AAF22843,BAB14612,BAC85676,AAH18942,AAH29926,O60432,Q6ZW31,Q9UH66 Hs.528701,Hs.706845 7h3|FLJ13511 protein-coding 1602090 SYDE2 synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 14702039 84144 NM_032184,AL603750,AK023877,AL834286 NP_115560,CAH72669,CAH72670,BAB14711,CAD38960,Q5VT97 Hs.670497 FLJ13815|RP11-33E12.1 protein-coding 1603674 SYF2 SYF2 homolog, RNA splicing factor (S. cerevisiae) This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 11118353,16951160,16710414,15489334,12477932,11991638,11230166 25949 BG390792,BI668848,CR598464,NM_207170,NM_015484,NG_003255,AL031432,CH471134,AF273089,AI311782,AL080166,BC010862,BC015824,BF057608,CR600253,CV806249,DR155437 NP_997053,NP_056299,CAB37991,CAI21417,EAW95152,EAW95153,EAW95154,EAW95155,AAG42073,CAB45754,AAH10862,AAH15824,O95926,Q96KZ3,ABM81589,ABW03276 Hs.20013 CBPIN|DKFZp564O2082|NTC31|P29 protein-coding 1344880 SYF2P SYF2 homolog, RNA splicing factor (S. cerevisiae) pseudogene 317778 NG_002474,AL117355 CBPINP ccndbp1 interactor pseudogene pseudo 736160 SYK spleen tyrosine kinase 1580863 16849645,16754322,16501050,16474166,16449524,16371508,16289966,16085052,15956283,15955106,15795233,15754322,15744341,15707999,15701717,15670211,15583006,15557085,15536084,15507431,15489334,15467722,15388330,15345594,15337524,15188513,15166239,15163542,15144186,15143214,15062056,15059847,15059510,14699155,14646171,12907655,12881490,12771181,12711606,12709437,12885943,8627166,9280292,10963601,7477352,8163536,8176201,18206515,18178826,18052078,18022864,18006696,17721605,17693136,17681949,17675521,17507237,17506820,17346310,17228323,17145863,17130299,17110603,17082600,17070777,16964403,16921024,16888096,12682251,12522270,12477932,12477728,12470302,12453414,12447358,12445683,12393431,12387735,12359715,12209081,12096713,12095152,12009018,11988077,11964172,11895767,11782428,11744621,11714793,11676469,11672534,11598012,11536198,11514608,11441091,11418661,11390470,11356834,11313252,11226282,11163197,11162638,11141335,11133830,11046148,10981967,10942405,10933389,10872802,10862713,10825200,10790433,10748099,10747947,10689303,10540342,10482988,10469124,10449770,10209036,10072516,10066823,10023776,10022120,9891970,9891087,9857068,9852052,9846481,9820500,9710204,9698567,9695951,9590268,9535867,9490415,9388490,9342235,9295288,9218456,9169439,9120258,9104825,9096689,8986718,8885868,8798764,8756631,8666899,8657103,8636079,8630736,8629002,8621719,8617742,8590001,8197119,8168854,8082894,8071371,7895172,7831290,7761456,7682059,7600304,7539035,7538118,7513161,7513017,7500027,3198621,2065070,1998697,1689310,1569106,1423621,16189514,7592872 6850 AL354862,CH471089,AK075020,AK290927,BC001645,BC002962,BC011399,BX647192,CR606511,L28824,S80267,X73568,Z29630,NM_003177 NP_003168,CAI16875,CAI16876,EAW62782,EAW62783,EAW62784,EAW62785,EAW62786,BAF83616,AAH01645,AAH02962,AAH11399,AAA36526,AAB35601,CAA51970,CAA82737,P43405,Q13196,Q5T6N7,Q5T6N8 Hs.371720 GDB:354405 protein-coding 1342491 SYM1 symphalangism 1 (proximal) 9634519 GDB:512174 1351051 SYM2 symphalangism 2 (distal) 6852 GDB:512175 1315523 SYMPK symplekin This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. 1580863 8769423,17880531,17158914,16344560,16230528,15550246,15489334,15302935,14707147,14533737,12477932,11181995,10669729,10413599,9700202,9585442,9330635 8189 AC008623,AC092301,CH471126,AB209024,AB210010,AF049526,AK130602,BC006536,BC006567,BC030214,BU752018,BX649165,CR625930,DB044963,DB461873,U49240,U88726,Y10931,NM_004819 Q92797,Q96B47,ABM84373,ABW03562,NP_004810,EAW57389,EAW57390,EAW57391,EAW57392,EAW57393,BAD92261,BAE06092,AAC27504,AAH06536,AAH06567,AAH30214,AAC50667,AAB58578,CAA71861,O75402,Q4LE61 Hs.515475 FLJ27092|SPK|SYM protein-coding 731422 SYN1 synapsin I This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 2110562,16169070,15822905,15772651,15345747,15147519,14985377,14673601,12477932,12438562,12237306,11867766,10899172,10725920,10578110,10571231,10386995,10358015,9645429,9463375,9395448,8702879,8430330,8287627,8022809,3118371,3095840,2506642,2118519,1905928,1905878 6853 NM_006950,NM_133499,AL009172,CH471164,M55301,M58321,M58341,M58351,M58353,M58359,M58371,M58372,M58373,M58374,M58375,M58376,M58377,M58378,Z84466,AI929645,AL833961,BC036711,BC048799 NP_008881,NP_598006,CAI42445,CAI42446,EAW59313,EAW59314,AAA60608,AAC41931,AAC41930,CAI42461,CAI42462,P17600,Q5H9B0 Hs.225936 GDB:119606 SYN1a|SYN1b|SYNI synapsin 1 protein-coding 736267 SYN2 synapsin II This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. The TIMP4 gene is located within an intron of this gene and is transcribed in the opposite direction. Mutations in this gene may be associated with abnormal presynaptic function and schizophrenia. Alternative splicing of this gene results in two transcripts. 1580863 8964517,17913586,17766091,16131404,15449241,15271586,14702039,12477932,11867766,11571277,10578110,10571231,10565545,10358015,9463375,9430678,8530057,8430330,7592648,2506642 6854 NM_003178,AC022234,AC026166,AC091492,CH471055,X89851,AB209088,AF077671,AF077737,AK091286,AK094464,BC040661,BC051307,CB155277,U40215,NM_133625 NP_598328,NP_003169,EAW64117,EAW64118,EAW64119,EAW64120,EAW64121,CAA61949,BAD92325,AAC28368,AAC33789,AAH51307,AAC50718,Q15530,Q59GM1,Q86VA8,Q92777 Hs.445503 GDB:125294 SYNII|SYNIIa|SYNIIb protein-coding 736491 SYN3 synapsin III This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in six transcript variants; however, only two variants have been fully described. 1580863 9539796,17413450,17366345,16511335,15900227,15489334,15461802,14732590,12477932,11867766,11840510,10591208,10582583,10578110,10358015 8224 NM_003490,AL021452,AL023282,AL031592,CH471095,Z71183,Z80902,Z82181,Z82246,Z83846,Z98256,AB209684,AF046873,BC075065,NM_133633,BC075066,BC117460,CR456589 NP_598344,NP_003481,EAW60029,EAW60030,EAW60031,EAW60032,EAW60033,EAW60034,EAW60035,EAW60036,EAW60037,CAB63144,CAI18771,CAB62947,CAI95433,CAB10915,BAD92921,AAC15101,AAH75065,AAH75066,AAI17461,CAG30475,O14994,Q17R54,Q4TT46,Q59EX7,Q7Z6W3,CAK54620,CAK54919 Hs.658998 GDB:9954623 synapsin 3 protein-coding 1346585 SYNC1 syncoilin, intermediate filament 1 16429158,16124004,12477932,11694502,11053421,7566098 81493 NM_030786,AC114489,CH471059,AA376455,AI752560,AK024707,BC119700,BC119701,DC355889,DC398945,DN991289 NP_110413,EAX07511,EAX07512,BAB14970,AAI19701,AAI19702,Q9H7C4 Hs.148589,Hs.647652,Hs.705489 MGC149625|MGC149626|SYNC|SYNCOILIN protein-coding 1313857 SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein 1580863 9847309,12674497,17353931,17010310,16765914,15635413,15489334,15479637,15475564,15340051,14574404,12601080,12477932,12388589,12376575,11994298,11991638,11773003,11574476,11352648,11134005,11051545,10734137,9731529,9373149,8125298,16189514,9341187 10492 NM_006372,AL136082,CH471051,AB209098,AF037448,AF155568,AK222776,AY034481,AY034482,AY034483,BC009176,BC015575,BC021932,BC024283,BC032643,BC040844,CR605141,CR624033 NP_006363,CAI20446,CAI20447,CAI20448,EAW48622,EAW48623,EAW48624,EAW48625,EAW48626,EAW48627,EAW48628,EAW48629,EAW48630,BAD92335,AAC12926,AAD38198,BAD96496,AAK59703,AAK59704,AAK59705,AAH15575,AAH24283,AAH32643,AAH40844,O60506,Q05CK9,Q59GL1,Q5TCG1,Q5TCG3 Hs.571177 GRY-RBP|HNRPQ1|NSAP1|RP1-3J17.2|dJ3J17.2|hnRNP-Q|pp68 protein-coding 1348942 SYNE1 spectrin repeat containing, nuclear envelope 1 This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 12408964,11801724,12808039,11792814,10878022,17761684,17503513,17462627,17159980,17081983,16875688,16079285,15093733,14709720,14702039,14574404,12958361,12477932,12358155,12168954,12163176,11214970,10574462,9872452,12812986 23345 NM_182961,NM_033071,NM_015293,NM_133650,AL049548,AL078582,AL136079,AL138832,AL357081,AL450401,AL589963,AL591507,CH471051,AB018339,AB033088,AB051543,AF043290,AF444779,AF495910,AF535142,AK055440,AK056122,AK057959,AK091651,AK094094,AK122691,AK123135,AK127076,AL713682,AL833542,AL833657,AY061755,AY061756,AY135172,AY183142,AY184203,AY184206,BC028616,BC039121,BC090927,BC150289,BK000543,BX537517,BX537837,BX647837,CR933676 NP_892006,NP_149062,NP_056108,NP_598411,CAD92578,CAI42743,CAI42744,CAI42745,CAI42746,CAI42747,CAI42282,CAI42283,CAI42284,CAI42287,CAI20327,CAI20328,CAI42784,CAI42785,CAI42786,CAI42787,CAI41322,CAI41323,CAI40727,CAI40728,CAI40729,CAI40730,CAH70430,CAH70431,CAI39952,CAI39953,CAI39954,CAI39955,EAW47727,EAW47728,EAW47729,EAW47730,EAW47731,EAW47732,EAW47733,EAW47734,EAW47735,EAW47736,EAW47737,EAW47738,EAW47739,CAI41324,BAA34516,BAA86576,BAB21847,AAC02992,AAL38031,AAN60442,AAN03486,BAB71097,BAC04284,CAD28486,AAL33798,AAL33799,AAM95335,AAO23669,AAO27771,AAO27774,AAH39121,AAH90927,AAI50290,DAA01060,CAD97770,CAD97849,CAI45971,Q3ZCV0,Q5BKU8,Q5H9Q3,Q5JRD8,Q5JRD9,Q5JT51,Q5JT52,Q5JV20,Q5JV23,Q5VUI5,Q5VUI6,Q7RTM4,Q7Z3K4,Q7Z3R1,Q7Z6R3,Q8NF91 Hs.12967 8B|CPG2|DKFZp781J13156|FLJ30878|FLJ41140|KIAA0796|KIAA1262|KIAA1756|MYNE1|RP11-809I23.2|RP3-398G3.1|SCAR8|dJ398G3.1|dJ398G3.2|nesprin-1 protein-coding 1312719 SYNE2 spectrin repeat containing, nuclear envelope 2 1580863 17881656,17761684,17462627,17081983,16344560,16079285,15843432,15790807,15671068,15489334,14702039,12958361,12508121,12477932,12408964,12168954,12118075,11792814,11230166,10878022,10231032 23224 NM_182914,NM_015180,NM_182913,NM_182910,AL162832,AL355094,AL359235,CH471061,AB023228,AL117404,AY061757,AY061758,AY061759,AY184204,AY184205,AY927627,BC036941,BC042134,BC071873,BX537642,BX538095,BX640974,BX648234,CR590112,CR619897,CR749324,DA825926,DB271849,AF435010,AF435011,AF495911,AI685725,AK001876,AK074055,AK090430,AK095087,AK095241,AK125715,AK127612,AK128631,AL080133 NP_878918,NP_055995,NP_878917,NP_878914,EAW80838,EAW80839,EAW80840,EAW80841,EAW80842,EAW80843,EAW80844,CAB55905,AAL33800,AAL33801,AAL33802,AAO27772,AAO27773,AAH42134,AAH71873,CAD98013,CAE45988,CAH18179,Q540G1,Q68DP1,Q6MZP0,Q6ZQY8,Q7Z362,Q86YP9,Q8WXH0,BAA76855,AAL33547,AAL33548,AAN60443,BAB84881,BAC03411,BAC04506,BAC87539,CAB45729 Hs.525392 DKFZP434H2235|DKFZp686E01115|DKFZp686H1931|FLJ11014|FLJ43727|FLJ45710|FLJ46790|KIAA1011|NUA|NUANCE|Nesprin-2|SYNE-2 protein-coding 1353044 SYNGAP1 synaptic Ras GTPase activating protein 1 homolog (rat) 1580863 15358237,15312654,15146197,15044063,15014045,14970204,14702039,14574404,12951199,12598599,11782456,11572484,11487731,11278737,10862698,9620694,9581761,9405464,1374684 8831 NM_006772,AL021366,AL662799,CH471081,AK094225,AL713634,CN412954 NP_006763,CAA16161,CAI18276,EAX03735,EAX03736,EAX03737,EAX03738,CAD28452,Q96PV0,AAI48358 Hs.586264 GDB:9957346 DKFZp761G1421|KIAA1938|RASA1|RASA5|SYNGAP protein-coding 736639 SYNGR1 synaptogyrin 1 This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being required for synaptic transmission. The gene product belongs to the synaptogyrin gene family. Three alternatively spliced variants encoding three different isoforms have been identified. 1580863 9760194,17081065,17049558,16344560,16215643,15489334,15461802,14732601,12477932,11086983,10595519,10591208 9145 NM_004711,NM_145731,NM_145738,AL022326,CH471095,AA412350,AI278583,AJ002303,AJ002304,AJ002305,AK289507,AW304782,BC000731,BI667990,BT007135,BX501388,CR456590,CR592136,CR594457,DA337769 NP_004702,NP_663783,NP_663791,CAA18452,EAW60321,EAW60322,EAW60323,EAW60324,CAA05320,CAA05321,CAA05322,BAF82196,AAH00731,AAP35799,CAG30476,O43759,CAK54621,CAK54920 Hs.216226 GDB:9955100 MGC:1939 protein-coding 732040 SYNGR2 synaptogyrin 2 This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. 1580863 9760194,15489334,12975309,12477932,9446595 9144 NM_004710,AC021593,AJ002310,AJ002312,CH471099,AJ002308,AL833010,AY358916,BC000407,BC029755,BC105992,BF198109,CR590958,CR592439,CR593429,CR597088,CR601443,CR604119,CR606358,CR610377,CR613790,CR614467,CR616541,CR616951,CR617679,CR618715,CR619412,CR621725,CR623251,CR625067,CR625549,CR600445 NP_004701,CAA05327,EAW89499,EAW89500,EAW89501,EAW89502,EAW89503,EAW89504,CAA05325,CAH56291,AAQ89275,AAH00407,AAH29755,AAI05993,O43760,Q3KQZ2,ABM82758,ABM85945 Hs.464210 GDB:9955098 MGC102914 protein-coding 1345958 SYNGR2P1 synaptogyrin 2 pseudogene 1 9760194 9307 NG_001218,AJ002313 GDB:9955973 SYNGR2P pseudo 2290517 SYNGR2P2 synaptogyrin 2 pseudogene 2 138916 NG_001541,AL353705 pseudo 1323444 SYNGR3 synaptogyrin 3 This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. 1580863 9760194,15489334,12477932 9143 NM_004209,AC005606,CH471112,AJ002309,BC009568,BC014087,BG699055,CR597024,CR599198,CR604382,CR608497,CR616926,CR617644,CR619180 NP_004200,EAW85577,CAA05326,AAH09568,AAH14087,O43761,Q96L30,ABM83277,ABM86481 Hs.435277 GDB:9955096 MGC:20003 protein-coding 1317104 SYNGR4 synaptogyrin 4 This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. 1580863 12477932,10708517,9760194 23546 NM_012451,AC011514,CH471177,AJ011733,BC106891,BG720827 NP_036583,EAW52339,CAA09754,AAI06892,O95473 Hs.408333 GDB:10795398 MGC125805 protein-coding 69491 SYNJ1 synaptojanin 1 Synaptojanin-1 is a phosphatidylinositol (4,5)-bisphosphate (PI(4,5)P2) that has a role in clathrin-coated pit dynamics Perera et al. (2006) [PubMed 17158794].[supplied by OMIM] 1580863 9428629,18281508,17158794,16137687,15821731,15261714,14704270,12829691,12805586,12477932,12168954,11443522,11292345,11086983,11082044,10830953,10816441,10773674,10764144,10542231,10373452,10048485,9388224,9341169,9238017,9195986,7982917 8867 NM_003895,NM_203446,AP000275,AP000276,AP000277,AP000278,AP000279,CH471079,AB020717,AF009039,AF009040,BC019630,BC067231,BC098395,DQ421853 NP_003886,NP_982271,EAX09863,EAX09864,BAA74933,AAC51921,AAC51922,AAH19630,AAH98395,ABD77575,O43426,Q05CZ1,Q1ZYQ4,Q4KMR1 Hs.473632 GDB:9957469 INPP5G protein-coding 69494 SYNJ2 synaptojanin 2 Synaptojanin-2 is a ubiquitously expressed inositol polyphosphate 5-phosphatase (Malecz et al., 2000 [PubMed 11084340]).[supplied by OMIM] 1300048,1580863 16102578,15548694,15489334,14574404,14562116,12805586,12477932,12421765,11498538,11084340,10805734,10357812,9636665,9388224,9205841,15778465 8871 NM_003898,AL139330,CH471051,AB002346,AF039945,AF318616,AK074294,AL157424,AY152396,BC043277,BX648749,CR615784 NP_003889,CAI12978,CAI12982,CAI12983,CAI12984,EAW47665,EAW47666,EAW47667,BAA20805,AAD02178,AAG46036,AAN73051,AAH43277,O15056 Hs.434494 GDB:9957482 INPP5H|KIAA0348|MGC44422 protein-coding 736800 SYNJ2BP synaptojanin 2 binding protein 1580863 15489334,15451561,15342556,14702039,12477932,11882656,11696420,11673475,10827173,10357812 55333 NM_018373,AL356804,CH471061,AK002133,AK123967,AY534623,BC007704,BP195583,BQ775922,CR603483,CR622530 NP_060843,EAW81032,EAW81033,BAA92098,AAT01566,AAH07704,P57105,Q49SH3 Hs.443661,Hs.704691 GDB:11510229 ARIP2|FLJ11271|FLJ41973|OMP25 protein-coding 735343 SYNPO synaptopodin Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM] 15841212,17255128,17081983,16622418,16564554,16381901,15659229,15592455,15489336,15342556,14702039,12477932,12042308,11230166,11076863,10470851,9314539,7566098,16260903,15343382 11346 NM_001109974,AC008453,AF499138,CH471062,AA303936,AB028952,AF499136,AF499137,AJ278122,AK091066,AK095279,AK127049,AK290178,AL049959,NM_007286,AL831818,BC042624,BC142683,BC146665,BC152538,BP237193,Y11072 NP_009217,NP_001103444,AAQ07404,EAW61715,EAW61716,BAA82981,AAQ07402,AAQ07403,BAC03576,BAF82867,CAD38532,AAI42684,AAI46666,AAI52539,CAA71955,Q0JT43,Q71HJ6,Q8N286,Q8N3V7,CAL37703,CAL38321 Hs.435228,Hs.591256,Hs.706784 KIAA1029 protein-coding 1344756 SYNPO2 synaptopodin 2 1580863 18371299,17828378,16381901,15489336,15111326,12917631,12637565,11673475,11256614,11230166,11076863,8593614 171024 NM_133477,AC096745,AC107048,AC108030,AF177291,AJ010482,AK000774,AL832031,AL832363,AL833294,AL833547,BC150629,BX647849,BX648090,CR606797,CR936673,EU481975 NP_597734,AAD55264,CAB51856,AAI50630,ACC93875,Q0JRY5,Q0JUT5,Q9UMS6,CAL37726,CAL38729 Hs.655519 GDB:11508918 DKFZp686G051 protein-coding 1348800 SYNPO2L synaptopodin 2-like 1580863 15164054,14702039,12477932,8889549 79933 NM_024875,NM_001114133,AC073389,CH471083,AA176924,AB188489,AK022983,AK095931,BC131776,BC142635,BX502518,W92641 NP_079151,NP_001107605,EAW54507,EAW54508,BAD37139,BAB14346,AAI31777,AAI42636,Q68A20,Q9H987 Hs.645273 FLJ12921 protein-coding 731737 SYNPR synaptoporin 1580863 16381901,15489336,15489334,14702039,12974474,12740598,12477932,12271488,11230166,11076863,8034131 132204 NM_144642,AC099056,AC104436,CH471055,AF411860,AK122831,AL834457,BC022518,CR936762 NP_653243,EAW65413,EAW65414,AAN03681,CAD39117,AAH22518,Q0JU38,Q8TBG9,CAL37973 Hs.648668 GDB:11508865 DKFZp686G0883|MGC26651|SPO synaptorin protein-coding 737494 SYP synaptophysin Synaptophysin (p38) is an integral membrane protein of small synaptic vesicles in brain and endocrine cells.[supplied by OMIM] 730100,1580863 10620806,1975480,17916412,17724707,17331077,17005904,16894395,16807900,16721760,16082702,15694236,15489334,14702039,12826904,12701886,12575533,12498786,12493563,12492469,12485399,12477932,12403815,12181340,12137757,12107411,12097487,12077483,11786535,11508360,11472886,11426054,10595912,10541003,9930883,9889259,9344658,9112016,8772779,8547634,3120152,2163183,1908157 730100 6855 NM_003179,AF196779,CH471224,U93305,AK094376,BC032385,BC064550,BQ637168,CR599877,CR605904,CR609397,X06389 NP_003170,EAW50684,EAW50685,AAB92358,AAH64550,CAA29686,P08247 Hs.632804 GDB:125295 protein-coding 1346991 SYPL1 synaptophysin-like 1 1580863 8034131,17081065,15489334,14702039,12853948,12690205,12477932,10636906,10370136,9847074,8707851,1730063 6856 NM_182715,AC005095,CH236947,CH471070,AA969654,AK128279,AK292230,BC016835,BC020938,NM_006754,BC061887,BG719851,BQ429369,CB989012,CR616230,S72481,X61382,X68194 NP_006745,NP_874384,AAD50513,EAL24401,EAL24402,EAW83379,EAW83380,EAW83381,BAF84919,AAH16835,AAH20938,AAH61887,AAB31344,CAA48276,Q16563 Hs.80919 GDB:129093 H-SP1|SYPL protein-coding 1603517 SYPL2 synaptophysin-like 2 16710414,16344560,14702039,12975309,12477932 284612 NM_001040709,AL355145,AL356735,CH471122,AI983207,AK095168,AK131459,AK289513,AK293082,AY358862,BC110407,BC113102,BC113103,DA097637,DB071160,DB291596,DN831287 NP_001035799,CAI22943,EAW56384,EAW56385,BAD18604,BAF82202,BAF85771,AAQ89221,AAI13103,AAI13104,Q14DL7,Q5VXT5,Q6UWB8 Hs.528366 MG29 protein-coding 1602841 SYS1 SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) 16303743,15077113,12477932 90196 CQ783385,AK075264,AK172738,AL449491,AL591714,BC048286,CA417429,CR596680,CR599811,CR605916,CR607560,CR616955,CR623013,CR623457,CR624106,CH471077,NM_033542,AL021578 CAF86589,BAC11506,CAC39448,AAH48286,Q8N2H4,CAI21082,CAI21084,EAW75847,EAW75857,NP_291020 Hs.655055 GDB:11505180 C20orf169|dJ453C12.4|dJ453C12.4.1 protein-coding 1642399 SYS1-DBNDD2 SYS1-DBNDD2 12477932 767557 NR_003189,AL021578,BC023562 C20orf169-DBNDD2 miscrna 736944 SYT1 synaptotagmin I The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM] 1580863 15082773,11438518,1840599,2446925,17956130,17307723,15603740,15489334,15466855,14709554,14702039,12477932,12135982,12089155,11454741,11438523,11438520,11432880,11381094,11243866,11242035,11181737,10734137,10692432,10397765,9712836,9303303,9010211,8999968,8901523,8769138,8087843,7798952,7553862,1326322 6857 NM_005639,AC027288,AC073570,AC073572,AC078917,CH471054,AK094616,AK126908,BC041373,BC058917,BX647240,CR627387,M55047 NP_005630,EAW97343,EAW97344,EAW97345,AAH58917,CAH10483,AAA60609,P21579,Q6AI31 Hs.310545 GDB:125296 DKFZp781D2042|P65|SVP65|SYT protein-coding 1346254 SYT10 synaptotagmin X 15489334,14756426,12477932 341359 NM_198992,AC016956,AC023158,CH471116,AY198413,BC101024,BC101025 NP_945343,EAW88510,AAP37477,AAI01025,AAI01026,Q495U1,Q6XYQ8 Hs.118703 GDB:11510876 MGC119436|MGC119437 protein-coding 1343002 SYT11 synaptotagmin XI 1580863 17192956,16303743,16189514,15489334,15354386,14702039,12925569,12477932,11543631,10734137,7584044 23208 NM_152280,AL139128,CH471121,AK027540,AK074931,BC004291,BC013690,BC039205,CR749792,D38522 NP_689493,CAH69948,EAW53025,EAW53026,BAB55186,BAC11300,AAH04291,AAH13690,AAH39205,CAH18653,BAA07527,Q5W0D4,Q9BT88 Hs.32984 GDB:9784588 DKFZp781D015|KIAA0080|MGC10881|MGC17226|SYT12 protein-coding 737534 SYT12 synaptotagmin XII The SRG1 gene encodes a protein that is a member of a family of proteins involved in the regulation of transmitter release in the nervous system (Fernandez-Chacon et al., 2001 [PubMed 11242035]). The membrane-associated synaptic SRG1 protein is under thyroid hormone control during brain development (Thompson, 1996 [PubMed 8987811]).[supplied by OMIM] 1580863 15489334,14702039,12477932,11543631,11242035,8987811 91683 NM_177963,AP000729,AP003176,CH471076,AK024280,AK289672,AK289727,AL833834,BC037406 NP_808878,EAW74576,BAF82361,BAF82416,CAD38694,AAH37406,Q8IV01,ABM83399,ABM86611 Hs.287636 GDB:11507988 SRG1|SYT11 protein-coding 735243 SYT13 synaptotagmin XIII SYT13 belongs to the large synaptotagmin protein family. All synaptotagmins show type I membrane topology, with an extracellular N terminus, a single transmembrane region, and a cytoplasmic C terminus containing tandem C2 domains. Major functions of synaptotagmins include vesicular traffic, exocytosis, and secretion.[supplied by OMIM] 11256614,18202767,16381901,15489336,15489334,15342556,12477932,11543631,11230166,11171101,11076863,10718198 57586 NM_020826,AC103681,AC103736,CH471064,AB037848,AJ303362,AK291009,AL512743,BC093830,BC093832,BP251101,CR592126 NP_065877,EAW68043,EAW68044,BAA92665,CAC33884,BAF83698,CAC21669,AAH93830,AAH93832,Q0JTK1,Q7L8C5,CAL38161 Hs.436643 GDB:11508708 KIAA1427 synaptotagmin 13 protein-coding 1345341 SYT14 synaptotagmin XIV 1580863 17304550,16710414,15238157,14702039,12801916 255928 NM_153262,AL022397,AL022399,AL513263,CH471100,AB102948,AJ617623,AJ617624,AJ617625,AJ617626,AJ617627,AK091517,BC130323,H85865 NP_694994,EAW93434,EAW93435,BAC76809,CAE85109,CAE85110,CAE85111,CAE85112,CAE85113,BAC03682,AAI30324,Q5THX6,Q5THX8,Q8NB59 Hs.658866 FLJ34198|MGC163195|sytXIV protein-coding 1604910 SYT14L synaptotagmin XIV-like 16376304,15238157,14702039,12477932,11543631 401135 NM_001014372,AC096727,CH471057,AJ303368,AY954513,BC132697 NP_001014394,EAX05567,CAC33890,AAX40990,AAI32698,Q58G82 Hs.130270,Hs.712109 CHR415SYT|sytdep protein-coding 736926 SYT15 synaptotagmin XV This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. 14702039,12788067,11739399,11543631 83849 NM_181519,NM_031912,XM_001720092,AL356056,CH471083,AB109022,AB109023,AI971263,AJ303363,AK127436,AK128634,AK131036,AK290186,BC139914,BG402134 NP_852660,NP_114118,XP_001720144,CAH73270,CAH73271,EAW54662,BAC76817,BAC76818,CAC33885,BAC86979,BAC87541,BAC85479,BAF82875,AAI39915,Q5VY53,Q6ZQY6,Q9BQS2 Hs.696346 CHR10SYT|syt XV-a|sytXV protein-coding 1346455 SYT16 synaptotagmin XVI 737633 16946482,15489334,15238157,12801916,12477932,11543631 737633 83851 NM_031914,AL356018,AL390816,CH471061,AB102949,AJ303367,AJ617628,BC040924,BC117363 NP_114120,EAW80812,EAW80813,EAW80814,BAC76810,CAC33889,CAE85114,AAH40924,AAI17364,Q17RD7 Hs.404139 CHR14SYT|SYT14L|Strep14|syt14r|yt14r synaptotagmin xiv-like protein-coding 734045 SYT17 synaptotagmin XVII 16730941,16713569,16672768,16189514,12477932,12107410,10493829 51760 NM_016524,AC003003,AC010494,CH471186,AF220560,AK098747,AK226136,BC004518,BQ548827,BQ961069,CA389452,CR595216 NP_057608,AAC05436,EAW50273,EAW50274,AAF37825,AAH04518,Q9BSW7 Hs.258326 protein-coding 735278 SYT2 synaptotagmin II Synaptotagmins, like SYT2, are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (Hilbush and Morgan, 1994 [PubMed 8058779]).[supplied by OMIM] 1580863 2446925,15489334,15350218,14709554,14702039,12477932,12063179,11696368,11381094,10952998,10734137,10330444,8901523,8058779,7961887,7749232 127833 NM_177402,AC104463,AC118556,CH471067,AK090672,AK094430,BC100814,BC100815,BC100816,BC100817 NP_796376,EAW91429,EAW91430,BAC03500,BAC04354,AAI00815,AAI00816,AAI00817,AAI00818,Q8N9I0 Hs.585015 GDB:638819 SytII synaptotagmin 2 protein-coding 736653 SYT3 synaptotagmin III 1580863 11256614,16381901,15489336,15489334,12477932,11543631,11230166,11076863,10734137,10692432,10531343,7791877,7749232,16189514 84258 NM_032298,AC008743,CH471135,AL136594,BC028379,BC031067 NP_115674,EAW71887,EAW71888,EAW71889,EAW71890,EAW71891,CAB66529,AAH28379,AAH31067,Q0JSW5,Q9BQG1,CAL38399,ABM82177,ABM85363 Hs.515554 GDB:638821 DKFZp761O132|SytIII synaptotagmin 3 protein-coding 68582 SYT4 synaptotagmin IV 730127,1580863 16189514,15489334,12477932,10938284,10734137,10718198,10397765,8901523,8058779,7993622 730127 6860 NM_020783,AC091039,CH471088,AB037763,AF299075,AK291154,BC036538 NP_065834,EAX01433,EAX01434,BAA92580,AAG37229,BAF83843,AAH36538,Q9H2B2,ABW03669 Hs.8059 GDB:638823 HsT1192|KIAA1342 protein-coding 731962 SYT5 synaptotagmin V 1580863 9177789,16344560,15820774,15489334,14702039,12477932,10734137,10556508,10531343,7597049,8901523 6861 NM_003180,AC010327,CH471135,X96783,AK125182,BC029962,BC033683,BC046157,BQ417474,CR597766,DA529870,DQ090951,Y19236 NP_003171,EAW72345,EAW72346,EAW72347,CAA65579,AAH33683,AAH46157,AAY99640,O00445,Q05BS5,Q4FD32 Hs.631566 GDB:638786 synaptotagmin 5 protein-coding 737166 SYT6 synaptotagmin VI Synaptotagmins, such as SYT6, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains. Some synaptotagmins are involved in synaptic membrane fusion, while others have a more general function in endocytosis. For further information on synaptotagmins, see MIM 185605.[supplied by OMIM] 16710414,16111671,14702039,12477932,11543631,11437455,8901523,7791877 148281 NM_205848,AL162594,CH471122,AK056448,AK096744,BC044948,CR594520 NP_995320,CAI18964,CAM27150,CAM27151,CAM27152,EAW56596,EAW56597,EAW56598,AAH44948,Q5T7P8 Hs.370963 GDB:11507990 protein-coding 736086 SYT7 synaptotagmin VII Synaptotagmins, such as SYT7, are brain-specific calcium-dependent phospholipid-binding proteins that play a role in synaptic exocytosis and neurotransmitter release. See MIM 600782.[supplied by OMIM] 1580863 12477932,12071850,11342594,10734137,10613842,10556508,9615227,8901523,8889548,7791877 9066 NM_004200,CR612685,Y19237,Y19238,Y19239,Y19240,BM679451,AP002754,AP003108,AP003559,CH471076,AF038535,AL137559,BC042495,BC125170,BC125171,BE644642 O43581,Q08AH6,NP_004191,EAW73953,EAW73954,EAW73955,EAW73956,EAW73957,AAB92667,AAI25171 Hs.502730,Hs.684589 GDB:9954826 IPCA-7|MGC150517|PCANAP7|SYT-VII protein-coding 1347431 SYT8 synaptotagmin VIII Synaptotagmins, such as SYT8, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains. Some synaptotagmins are involved in synaptic membrane fusion, while others have a more general function in endocytosis. For further information on synaptotagmins, see MIM 185605.[supplied by OMIM] 61762,1580863 14702039,12477932,7791877 61762 90019 NM_138567,AC051649,CH471158,CQ783293,AK075202,AK131292,AY353087,BC038591,BX396540,CR596759,CR601912,CR619379,CR622425,AL137708 NP_612634,EAX02465,EAX02466,CAF86504,BAC11467,BAD18463,AAQ57209,Q6ZNB2,Q8NBV8,CAB70885 Hs.161031 GDB:11510877 DKFZp434K0322 protein-coding 1354462 SYT9 synaptotagmin IX 1580863 15489334,15066994,14702039,12966166,12477932,12062430,12062043,11751925,11543631,10734137,8901523,16189514 143425 NM_175733,AC027804,AC060799,AC107884,CH471064,AK055003,AK055929,AK127795,AL137512,BC029605,BC046367 NP_783860,EAW68659,BAC87140,AAH29605,AAH46367,Q6ZS16,Q86SS6,Q8NCP8 Hs.177193 GDB:11510878 FLJ45896 protein-coding 1321784 SYTL1 synaptotagmin-like 1 1580863 17200145,16004602,15489334,14702039,12477932,12137562,11773082,11278853,12590134,11980908,11243866 84958 BC009224,BC015764,BC035725,CR590979,CR595955,CR604153,CR609080,CR612838,CR626119,AL663123,CH471059,AK027902,AK074154,AK096437,AK097172,AK126120,AK293038,AY037157,NM_032872 AAH09224,AAH15764,AAH35725,Q5SSC6,Q5SSC7,Q5SSC8,Q5SSC9,Q5SSD0,Q6ZTX8,Q8IYJ3,Q8N880,Q8TEH0,ABM82143,ABM85326,NP_116261,CAI14781,CAI14782,CAI14783,CAI14786,EAX07759,EAX07760,EAX07761,EAX07762,BAB55444,BAB84980,BAC04970,BAC86449,BAF85727,AAK67636 Hs.469175 FLJ14996|JFC1|SLP1 protein-coding 1316959 SYTL2 synaptotagmin-like 2 The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A), which suggests a role in vesicle trafficking. Multiple alternatively spiced transcript variants encoding distinct isoforms have been observed. 1580863 17672918,17182843,16303743,15489334,15231748,14702039,12590134,12477932,11773082,11543631,11327731,11243866,10997877,10865129,10737800,9373149,8976547,8125298,16189514 54843 AK056722,NM_032943,NM_206928,NM_206927,NM_206930,NM_206929,NM_032379,AP000642,CH471076,CQ783637,AK074737,AK092121,AK124754,AK127504,AK131365,AK222707,AK222710,AL601023,AL706957,AL834422,AY386362,BC015540,BC068495,BC110315,BQ308382,BX647671,BX648068,CB046277,CR595112,AB046817,AJ303364,AK000170,AK024872 BAB15030,NP_116561,NP_996811,NP_996810,NP_996813,NP_996812,NP_115755,EAW75107,EAW75108,EAW75109,EAW75110,EAW75111,EAW75112,EAW75113,CAF86787,BAC11170,BAC85937,BAC87010,BAD18516,CAD39083,AAR25619,AAH15540,AAI10316,Q53H71,Q6TV07,Q6ZN59,Q6ZSE3,Q6ZVC5,Q9BQS1,Q9HCH5,BAB13423,CAC33886,BAA90989 Hs.369520 GDB:11502147 CHR11SYT|KIAA1597|MGC102768|SGA72M|SLP2 protein-coding 1352944 SYTL3 synaptotagmin-like 3 16344560,14702039,12590134,12477932,11773082,11243866 94120 BC100831,NM_001009991,AL589931,CH471051,AI674404,AK055750,AK092729,AK131092,BC042966,BC085612,BC100828,CR613848,DB175440,BC100829,BC100830 AAI00831,NP_001009991,CAI95305,EAW47648,EAW47649,EAW47650,EAW47651,EAW47652,EAW47653,EAW47654,BAC85142,AAH85612,AAI00829,AAI00832,Q4VX76,Q6ZNK2,AAI00830 Hs.436977 GDB:11507992 MGC105130|MGC118883|MGC118884|MGC118885|SLP3 protein-coding 734138 SYTL4 synaptotagmin-like 4 (granuphilin-a) 1580863 17081983,16831872,16189514,15772651,15563604,15489334,14702039,12665801,12590134,12176990,12101244,11956164,11865063,11773082,10497219,12477932 94121 NM_080737,AL391688,CH471115,Z73900,AF302493,AK094110,AK098279,AK292588,BC014913,BX537410,AL832596 NP_542775,CAI41008,EAX02813,EAX02814,EAX02815,AAQ14492,BAC04287,BAF85277,AAH14913,CAD97652,Q71SF7,Q96C24,CAI46126 Hs.592224 GDB:11508769 DKFZp451P0116|FLJ40960 protein-coding 736279 SYTL5 synaptotagmin-like 5 1580863 16630545,12051743,12590134 94122 NM_138780,AL121578,CH471141,AB080222,AK125106,BC131585,BX647688 NP_620135,EAW59448,EAW59449,EAW59450,BAB88906,AAI31586,Q8TDW5 Hs.662334 GDB:11508770 slp5 synaptotagmin 15 protein-coding 1603603 SYVN1 synovial apoptosis inhibitor 1, synoviolin This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. This gene and the mitochondrial ribosomal protein L49 gene use in their respective 3' UTRs some of the same genomic sequence. Sequence analysis identified two transcript variants that encode different isoforms. 12459480,18344614,18314878,18264092,18235538,17967421,17582219,17170702,17141218,17059562,16847254,16802346,16786162,16713569,16289116,16186510,16186509,15489334,14593114,12975321,12646171,12477932,11347906,11256614 84447 NM_172230,NM_032431,AP003068,CH471076,AA864844,AB058713,AB085847,AF317634,AK074148,AK126912,AL834262,BC013860,BC030530,BC035473 NP_757385,NP_115807,EAW74357,EAW74358,EAW74359,EAW74360,EAW74361,EAW74362,BAB47439,BAC24801,AAL26903,BAB84974,CAD38937,AAH30530,Q86TM6,Q8TEH6,AAI41663,ABW03727,ABW03387,ABZ92145 Hs.321535 HRD1|KIAA1810|MGC40372 protein-coding 1320869 T T, brachyury homolog (mouse) The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. 1580863 8963900,18466071,17273972,14574404,12477932,12000749,11897834,10768863,8733136,1516477 6862 NM_003181,AL627443,CH471051,AJ001699,BC039877,BC098425,BG436736 NP_003172,CAI14269,EAW47538,EAW47539,CAA04938,AAH98425,O15178,Q4KMP4 Hs.389457 GDB:3750559 MGC104817|TFT protein-coding 1346236 TAAR1 trace amine associated receptor 1 TAAR1 is a G protein-coupled receptor activated by trace amines. Trace amines are endogenous amine compounds that account for less than 1% of the biogenic amines in most brain regions (Bunzow et al., 2001 [PubMed 11723224]).[supplied by OMIM] 634071,1580863 15718104,17900709,16878137,15489334,14574404,12477932,11723224,11459929 634071 134864 NM_138327,AF200627,AF380185,AL513524,CH471051,AY180374,BC101825,BC112194 NP_612200,AAG17112,AAK71236,CAH72104,EAW48021,AAO22154,AAI01826,AAI12195,Q96RJ0 Hs.375030 MGC126874|MGC138399|RP11-295F4.9|TA1|TAR1|TRAR1 trace amine receptor 1 protein-coding 1606827 TAAR2 trace amine associated receptor 2 16878137,15718104,15489334,14574404,12477932,10684976 9287 NM_001033080,NM_014626,AF112460,AL513524,CH471051,E13892,AY702304,AY703480,BC067461,BC067462,BC067463,DN693314 NP_001028252,NP_055441,AAF27278,CAH72103,EAW48024,AAV70122,AAV70150,AAH67461,AAH67462,AAH67463,Q9P1P5,AAI40325,AAI48689 Hs.272382 GDB:9955623 GPR58 protein-coding 1343570 TAAR3 trace amine associated receptor 3 (gene/pseudogene) 632893,1580863 16878137,15718104,12477932,10684976 632893 9288 NG_002481,AF112461,AF112462,AL513524,AY702305,BC095548 AAF27279,Q9P1P4 Hs.679662 GDB:9955624 GPR57|GPR58|TAAR2 g protein-coupled receptor 57 pseudo 1605473 TAAR4P trace amine associated receptor 4 pseudogene 16878137,15718104,9473609 503612 NG_004855,AL513524,U88828 pseudo 1603706 TAAR5 trace amine associated receptor 5 9464258,16878137,15718104,15489334,14574404,12477932 9038 AL513524,AY702306,CH471051,AF021818,BC069171,BC095541,BC112209,BC112211,NM_003967 NP_003958,CAH72100,AAV70123,EAW48025,AAC39581,AAH69171,AAH95541,AAI12210,AAI12212,O14804 Hs.248198 MGC138414|MGC138416|PNR|RP11-295F4.5 protein-coding 1348964 TAAR6 trace amine associated receptor 6 The TAAR6 (TRAR4) gene belongs to the trace amine receptor family. Trace amines are endogenous amine compounds that are chemically similar to classic biogenic amines like dopamine, norepinephrine, serotonin, and histamine. Trace amines were thought to be 'false transmitters' that displace classic biogenic amines from their storage and act on transporters in a fashion similar to the amphetamines, but the identification of brain receptors specific to trace amines indicates that they also have effects of their own (Duan et al., 2004 [PubMed 15329799]).[supplied by OMIM] 634071,1580863 15718104,18198266,17957234,17895926,17505468,17097106,16878137,16189505,16075187,15489334,15329799,14574404,12477932,11459929,9674972,9226366 634071 319100 NM_175067,AF380192,AL513524,CH471051,AY183470,BC069157 NP_778237,AAK71243,CAH72099,EAW48026,AAO24661,AAH69157,Q96RI8 Hs.434196 GDB:6915017 RP11-295F4.3|SCZD5|TA4|TRAR4 protein-coding 1605474 TAAR7P trace amine associated receptor 7 pseudogene 16878137,15718104 503611 NG_004854,AL513524,AY803193 pseudo 1345308 TAAR8 trace amine associated receptor 8 G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 634071,1580863 15718104,16878137,15489334,14574404,12477932,11574155,11459929 634071 83551 NM_053278,AF380193,AF411116,AL513524,CH471051,AY183468,BC069166 NP_444508,AAK71244,AAL26487,CAH72098,EAW48027,AAO24659,AAH69166,Q969N4 Hs.350571 GPR102|TA5|TAR5|TRAR5 protein-coding 1352345 TAAR9 trace amine associated receptor 9 TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM] 1580863 15718104,16878137,14559210,12477932,11459929 134860 NM_175057,AF380189,AL513524,CH471051,AY183469,BC069083 NP_778227,AAK71240,EAW48028,AAO24660,Q96RI9 Hs.434116 TA3|TAR3|TRAR3 protein-coding 619560 TAC1 tachykinin, precursor 1 This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 12871824,12854086,12752772,12705477,12690205,12686752,12603817,12578734,12548712,12528114,12486316,12477932,12383866,12382579,11950831,11921119,11591789,11342427,11160316,11113362,11104584,10491292,10189055,9847074,9846828,9655475,9373149,9272936,8702757,8125298,7961636,7692486,3770210,3038549,2284201,1312203,9482938,8957234,1708336,9548509,18211417,18197882,17975140,17855557,17709376,17667845,17655760,17588657,17494790,17450584,17448763,17409218,17376622,17370082,17264209,17257983,17175032,16952549,16877367,16816831,16503654,15899028,15761654,15729363,15690122,15544859,15489334,15358539,15130944,14749007,14703707,14589248,14564346,14532289,11919172 6863 CR407602,CR541730,DN992454,M68906,M68907,U37529,X54469,NM_013996,NM_013997,NM_013998,AC004140,CH236949,CH471091,AF050655,AF050656,AF050657,AF050658,AK222957,BC018047,NM_003182 AAH18047,CAG28529,CAG46531,AAA60159,AAA60160,AAA79195,CAA38351,P20366,Q549V0,Q549V1,Q549V2,Q6FHM1,Q9Y494,ABM83016,ABM86209,NP_003173,NP_054702,NP_054703,NP_054704,AAQ96888,AAQ96889,AAQ96890,AAQ96891,EAL24116,EAL24117,EAL24118,EAL24119,EAW76734,EAW76735,EAW76736,EAW76737,EAW76738,AAC15701,AAC15702,AAC15703,AAC15704,BAD96677 Hs.2563 GDB:119452 Hs.2563|NK2|NKNA|NPK|TAC2 protein-coding 1353248 TAC3 tachykinin 3 (neuromedin K, neurokinin beta) 70033,1580863 10866201,18240076,17561251,17448763,17175032,16709596,15489334,15317475,15123623,14700748,14634580,12975309,12727971,12477932,11231038,10189055,8990205,8702757,7961636,3479225,1708331 70033 6866 NM_013251,NM_001006667,AC026120,AM179832,CH471054,AF136174,AF186112,AF216586,AF537113,AF537114,AF537115,AF537116,AF537117,AF537118,AF537119,AF537120,AF537121,AY358679,BC032145,CR457193,CR620932 NP_037383,NP_001006668,CAJ47374,EAW96972,EAW96973,EAW96974,EAW96975,EAW96976,EAW96977,EAW96978,EAW96979,EAW96980,AAP97264,AAF01430,AAF76980,AAQ10783,AAQ10784,AAQ10785,AAQ10786,AAQ10787,AAQ10788,AAQ10789,AAQ10790,AAQ10791,AAQ89042,AAH32145,CAG33474,Q2UVB8,Q7Z4W6,Q9UHF0,ABM83185,ABM86387 Hs.9730 GDB:119453 NKB|NKNB|PRO1155|ZNEUROK1 protein-coding 735700 TAC4 tachykinin 4 (hemokinin) This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. 727210 16931167,15224188,12716968,12477932,12383518,11786503,11062498,10737800,17175032 727210 255061 AF521560,AY471574,BC100840,BC100841,BC100842,BC100843,BC111857,BC111858,NM_170685,NM_001077505,NM_001077503,NM_001077504,NM_001077506,AC027801,BD086009,CH471109,AF515828,AF515829,AF515830,AF515831 AAN77128,AAS46596,AAI11858,AAI11859,Q86UU9,NP_733786,NP_001070973,NP_001070971,NP_001070972,NP_001070974,EAW94657,AAP30874,AAP30875,AAP30876,AAP30877 Hs.434138,Hs.652130 GDB:11510879 EK|HK-1|MGC133009|MGC133010|PPT-C tachykinin 4 protein-coding 1342908 TACC1 transforming, acidic coiled-coil containing protein 1 The function of this gene has not yet been determined; however, it is speculated that it may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. 1580863 11903063,16344560,15489334,15592455,15207008,14767476,12547166,12477932,12389629,12087473,11121038,10470851,10435627,10366448,12165861,14603251,15064709,17081983,16496324 6867 NM_006283,NM_001122824,AC067817,CH471080,AB029026,AF049910,AF075051,AY039239,AY072873,AY072874,AY072875,AY072876,AY139007,AY177411,BC041391,BX647696,CR605417,DB084271 NP_006274,NP_001116296,EAW63293,EAW63294,EAW63295,EAW63296,EAW63297,EAW63298,BAA83055,AAC32327,AAK68658,AAL62460,AAL62461,AAL62462,AAL62463,AAN28955,AAO53446,AAH41391,CAI46025,O75410,Q5HYH0,Q8IUJ5 Hs.279245 GDB:9863284 DKFZp686K18126|Ga55|KIAA1103 protein-coding 1349981 TACC2 transforming, acidic coiled-coil containing protein 2 Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. 1580863 15207008,16964243,15489334,15304323,15164054,14767476,14702039,12711550,12620397,12477932,11161455,11121038,10749935,10637228,10435627,10366448 10579 AF528099,AK027066,AK056743,AK075097,AK094848,AK095371,AL713712,AL833304,BC000999,BC010219,BC015736,BC029124,BC031036,BC039311,BC141837,AF528098,BC142673,NM_206861,NM_006997,NM_206860,AC063960,AL135793,AL731566,CH471066,AF095791,AF176646,AF220152,NM_206862 AAO62629,AAO62630,CAD28509,AAH00999,AAH39311,O95359,Q4VXL2,Q4VXL4,Q4VXL5,Q4VXL8,NP_996744,NP_996743,NP_008928,NP_996742,CAI95126,CAI95127,CAI95128,CAI95129,CAI95130,CAI95131,CAI95132,CAI95134,EAW49325,AAC64968,AAF63433,AAF29537 Hs.501252,Hs.699946 GDB:9957682 AZU-1|ECTACC protein-coding 1353438 TACC3 transforming, acidic coiled-coil containing protein 3 The function of this gene has not yet been determined; however, it is speculated that it may be involved in cell growth and differentiation. Expression of this gene is up-regulated in some cancer cell lines, and in embryonic day 15 in mice. 17914111,17675670,16964243,15489334,15302935,14767476,12927788,12711550,12477932,12389629,12015314,11847113,11298601,11121038,10366448,9373149,8125298 10460 NM_006342,AC016773,CH471131,M63005,M63480,AF093543,AF479620,AJ243997,AK225631,BC106071,BC111771,CR591833,CR606211,CR621870,CR624101 NP_006333,EAW82574,EAW82575,AAD25964,AAN76993,CAB53009,AAI06072,AAI11772,Q2NKK4,Q8IX09,Q9Y6A5 Hs.104019 GDB:9958857 ERIC1|MGC117382|MGC133242 protein-coding 731008 TACR1 tachykinin receptor 1 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. This receptor is also involved in the mediation of phosphatidylinositol metabolism of substance P. 18085301,17713785,17667845,17602742,17563389,17525212,17448763,17443717,17370082,17050807,17023511,16901764,16893949,16815618,16675550,16670094,16618119,16305827,16154193,16123103,15690122,15664664,15590676,15489334,15452552,15130944,14601651,12810079,12752772,12727971,12686752,12594338,12548712,12528114,12477932,12427486,12393913,12383866,12151774,12147210,12130725,12067742,11950831,11906947,11864635,11857684,17986524,8985172,1657150,9537323,10854844,10611312,18452185,18203813,18187929,18180429,11786503,11698023,9754802,9733503,8384323,7782081,7692486,2548782,1883349,1723045,1718267,1659396,1374227,1312928,1310144,1281469,1280161 6869 NM_001058,NM_015727,AC007400,AC007681,CH471053,X65177,AK289765,AY462098,BC074911,BC074912,BC095528,M74290,M76675,M81797,M84425,M84426,S62045 NP_001049,NP_056542,AAY15031,AAY14950,EAW99595,EAW99596,CAA46292,BAF82454,AAR23925,AAH74911,AAH74912,AAH95528,AAA60601,AAA59936,AAA59933,AAA36641,AAA36644,AAB20168,P25103,Q4VBL8,Q53TQ2,Q53TR1 Hs.654419 GDB:128977 NK1R|NKIR|SPR|TAC1R protein-coding 736836 TACR2 tachykinin receptor 2 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. 1580863 8307161,10862829,2173708,18219665,18203813,17532769,17503489,17448763,17402972,16893949,16344560,15690122,15294896,14702039,12801882,12742655,12477932,12427486,11906947,11786503,10189055,7961636,7721803,1848773,1845990,1710456,1661704,1659297,1659296,1370160 6865 NM_001057,AB065731,AC016821,AF361880,CH471083,M60284,M75105,AK096906,AK291996,AY322545,BC033742,BC096842,DA929480,M57414 NP_001048,BAC05952,AAK51938,EAW54324,EAW54325,AAA60347,AAB05897,BAF84685,AAP84358,AAH96842,AAC31760,P21452,Q4QRI5,Q8NGQ8,Q96KE0,Q9UDE6 Hs.88372 GDB:126367 NK2R|NKNAR|SKR|TAC2R protein-coding 735782 TACR3 tachykinin receptor 3 This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. 1580863 8990205,1374246,18422838,18287949,18203813,17448763,16709596,15489334,15130944,12477932,11786503,10866201,10189055,9272936,8925404,2452993,1315051,1312928,1312036 6870 NM_001059,AC004065,AC105460,CH471057,S86392,X65172,AY462099,BC095527,BC121806,BC122551,M89473 NP_001050,EAX06173,AAB21706,CAA46291,AAR23926,AAH95527,AAI21807,AAI22552,AAA36366,P29371,Q0IIN4,Q4VBL9 Hs.942 GDB:9599126 MGC148060|MGC148061|NK3R|TAC3RL tachikin receptor 3 protein-coding 1345999 TACSTD1 tumor-associated calcium signal transducer 1 This 9-exon gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. 1580863 18025791,18006828,17981779,17579117,17186549,17143526,16616808,16096650,16054130,15942643,15922867,15637741,15557427,15489334,15328177,15240533,15195135,15131054,15102668,14557747,12926061,12642870,12592372,12477932,12063020,11306819,11080501,11058587,10761711,10728619,8382772,7693697,3770992,2911574,2469722,2463074,2333300,2108441,16189514,11435477,1729376,18316609 4072 NM_002354,AC079775,CH471053,CQ800737,M93036,AK026585,BC014785,CR542259,CR542283,CR593061,CR626162,M26481,M32306,M32325,M33011,X14758 NP_002345,AAY15095,EAX00218,EAX00219,CAG28087,AAB00775,AAH14785,CAG47055,CAG47078,AAA59543,AAA35723,AAA36151,AAA35861,CAA32870,P16422,Q6FG26,Q6FG49,ABM82264,ABM85446 Hs.699160 GDB:642109 CD326|CO17-1A|EGP|EGP40|Ep-CAM|GA733-2|KSA|M4S1|MIC18|MK-1|TROP1|hEGP-2 protein-coding 1342963 TACSTD2 tumor-associated calcium signal transducer 2 This intronless gene encodes a carcinoma-associated antigen defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane proteins. It transduces an intracellular calcium signal and acts as a cell surface receptor. Mutations of this gene result in gelatinous drop-like corneal dystrophy, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. 1599194,1580863 7665234,10192395,8382772,18285265,18281513,18084248,17898270,17878632,17768381,17721311,17653040,17167402,17081983,16707602,16341674,16232198,15851553,15489335,15489334,15295654,15013888,12926061,12614764,12477932,12107443,12036680,11687514,11306819,11004271,10937555,10928776,10844062,9610724,9462726,2911574,15607035,15652848 1599194 4070 NM_002353,AL035411,CH471059,J04152,AI201870,AW052118,BC009409,BM765888,BT007255,CD722224,CR542260,CV027795,X13425,X77753 NP_002344,EAX06630,AAA52505,AAH09409,AAP35919,CAG47056,CAA31781,CAA54799,P09758,Q6FG48,Q7Z7Q4,ABM83527,ABM86761 Hs.23582 GDB:120161 EGP-1|GA733|GA733-1|M1S1|TROP2 protein-coding 1606748 TADA1L transcriptional adaptor 1 (HFI1 homolog, yeast)-like 12477932,11564863,9726987 117143 NM_053053,AL008639,AL009182,CH471067,AK290964,AK291922,BC015401,BC036497,CR618254,CR619512 NP_444281,CAI23577,EAW90778,BAF83653,BAF84611,AAH15401,Q96BN2,ABZ92130 Hs.435967 KIAA0764|RP1-9E21.4|STAF42 protein-coding 1320582 TADA2L transcriptional adaptor 2 (ADA2 homolog, yeast)-like Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Two transcript variants encoding different isoforms have been identified for this gene. 8552087,16299514,15489334,14702039,12972612,12477932,9885574,9674425,9373149,9154805,9073520,8972232,8125298,12660246,16189514,11707411 6871 NM_001488,NM_133439,AC004099,AC068400,AC068447,CH471199,AF064094,AF069732,AK022767,AK096371,AK225918,AL526501,BC001172,BC011753,BM470857,CR615572 NP_001479,NP_597683,EAW57587,EAW57588,EAW57589,EAW57590,EAW57591,AAC26659,AAC39902,AAH01172,AAH11753,O75478,Q9BVJ0 Hs.500066 GDB:5195864 ADA2|ADA2A|FLJ12705|KL04P|hADA2 protein-coding 1314884 TADA3L transcriptional adaptor 3 (NGG1 homolog, yeast)-like Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. In addition, it associates with the tumor suppressor protein p53 and is required for full activity of p53 and p53-mediated apoptosis. At least four alternatively spliced variants have been found for this gene, but the full-length nature of some variants has not been determined. 1580863 15383276,16189514,9674425,11256614,18256148,18089809,17452980,17272277,16381901,16169070,15496419,15489336,15489334,14702039,12477932,12235159,12138191,12034840,11707411,11564863,11406595,11230166,11076863,10373431,9674419,12660246 10474 NM_006354,NM_133480,AC022382,CH471055,AF069733,AK000228,AK024982,AK292264,AL117487,BC001480,BC009240,BC013433,CR533543,CR594013,CR597436,CR602056,CR607832,CR618353,CR620907,CR625213 NP_006345,NP_597814,EAW63994,EAW63995,EAW63996,EAW63997,AAC39903,BAF84953,CAB55957,AAH09240,AAH13433,CAG38574,O75528,Q0JU53,Q6FI83,CAL37474,CAL37705,CAL37958,AAI41662,ABZ92464 Hs.386390 GDB:9957103 ADA3|FLJ20221|FLJ21329|hADA3 protein-coding 1349671 TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Two transcripts encoding different isoforms have been identified for this gene. 1580863 11564872,11564863,11316804,11278496,11257518,11126356,11005381,10827952,10759893,10737800,10704353,10469661,10428810,9926939,9880542,9765293,9751712,9660973,9603936,9584164,9488465,9482861,9388200,9242374,9054383,9045704,8849451,8764062,8764009,8700832,8680883,8663456,8650542,8577725,8450888,8224850,8163188,8121496,8065335,7958900,7933101,7923369,7836461,7835343,7809597,7724559,7724524,7667268,3556424,3169001,2038334,1876184,12665565,15710329,15601843,11592977,7590250,7680771,9858607,8625415,9405375,15053879,8946909,1939271,2449431,17952504,17505112,17327284,17273961,17237821,16713569,16705091,16155788,16113828,15978108,15939070,15870300,15306156,15087451,14871254,14719174,14717966,14651335,14580349,12958613,12928496,12876631,12842904,12569092,12498690,12217962,12093919,12040021,11909971,11871391,11748221,11686293,8980232 6872 NM_004606,NM_138923,AL590762,AL590763,AY623109,CH471132,AB209316,AB300418,AJ549245,AJ549246,AJ549247,AJ549248,AJ549249,AJ549250,AJ555148,AJ555149,AM711892,AM711893,AM711894,AM711895,AW937788,BQ027170,D90359,M73444,R66536,X07024 NP_004597,NP_620278,AAT38105,EAX05291,EAX05292,EAX05293,EAX05294,EAX05295,BAD92553,BAG15901,CAD70488,CAD70489,CAD70490,CAD70491,CAD70492,CAD70493,CAD87527,CAD87528,CAM98555,CAM98556,CAM98557,CAM98558,BAA14374,CAA30073,P21675,Q70T04,Q70T05 Hs.158560 GDB:120573 BA2R|CCG1|CCGS|DYT3|KAT4|N-TAF1|NSCL2|OF|P250|TAF2A|TAFII250 protein-coding 1314218 TAF10 TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. 1580863 7923369,16415881,9405375,8946909,15870280,1939271,2449431,14580349,17599049,15489334,15099517,12762840,12477932,11564863,11438666,11406595,10469660,10373431,9885574,9674425,9154123,9054383,8849451,8764062,8764009,8680883,8598193,8530084,8121496,7933101,7836461,7835343,7729427,12660246,14499622 6881 AF498312,CH471064,U25816,AL833496,BC012088,CR541943,CR597361,CR598728,U13991,NM_006284,AC091564 AAM14627,EAW68687,AAB61242,AAH12088,CAG46741,AAA62230,Q12962,Q6FH13,NP_006275 Hs.5158 GDB:453296 TAF2A|TAF2H|TAFII30 protein-coding 1313766 TAF11 TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. 1580863 9695952,9045704,9405375,8946909,1939271,2449431,14580349,15489334,14574404,12477932,9632676,9584164,9311784,9054383,8849451,8820923,8764062,8764009,8680883,8670810,8121496,7933101,7836461,7835343,7729427,9159119,9488465 6882 NM_005643,AL033520,AY217767,AF118094,BC021972,BT019404,BT019405,BX538195,BX647568,CR542068,CR601696,CR601826,CR603953,CR621043,D63705,X83928 NP_005634,CAB96725,AAO25652,AAF22038,AAH21972,AAV38211,AAV38212,CAG46865,BAA23620,CAA58780,Q15544,ABM84165,ABM87568 Hs.112444 GDB:596031 MGC:15243|PRO2134|TAF2I|TAFII28 protein-coding 1348553 TAF12 TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. 1580863 7729427,9405375,8946909,1939271,2449431,14580349,17268553,16710414,15735663,15601843,15489334,12601814,12477932,12237304,11564863,11406595,10594036,9885574,9674425,9311784,9054383,9045704,8849451,8764062,8764009,8680883,8663456,8647459,8598932,8121496,7933101,7836461,7835343,12660246,1560184 6883 X84002,BC011986,NM_005644,AL513497,AL840644,AY206865,CH471059,BT007031,CR590266,D50544,U57693 CAA58826,Q16514,ABM92197,ABM84665,NP_005635,CAI22291,AAO13491,EAX07680,EAX07681,EAX07682,EAX07683,AAH11986,AAP35678,BAA09112,AAC50600,AAC50601 Hs.530251 GDB:596033 TAF2J|TAFII20 protein-coding 1313406 TAF13 TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. 1580863 7729427,9695952,9405375,8946909,1939271,2449431,16710414,12878157,12477932,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,9311784,9488465,15489334 6884 NM_005645,BX679664,CH471122,AU280379,AV713996,BC121180,BC121181,BG675152,X84003 NP_005636,CAH71330,EAW56354,EAW56355,AAI21181,AAI21182,CAA58827,Q0VA92,Q15543 Hs.632426 GDB:596032 MGC22425|TAF2K|TAFII18 protein-coding 1343397 TAF13P TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, pseudogene 246112 NG_001573,AL049697 GDB:11507994 pseudo 1320016 TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a subunit of TFIID present in a subset of TFIID complexes. Translocations involving chromosome 17 and chromosome 9, where the gene for the nuclear receptor CSMF is located, result in a gene fusion product that is an RNA binding protein associated with a subset of extraskeletal myxoid chondrosarcomas. Two transcripts encoding different isoforms have been identified. 1580863,1599281 18330902,15782174,15635413,15324660,15094065,15066997,12477932,12359745,9795213,9660765,9488465,9054383,8954779,8890175,8849451,8764062,8764009,8680883,8663456,8121496,7933101,7836461,7835343,12183049 1599281 8148 NM_003487,NM_139215,AB010067,AC015849,AY197697,CH471147,BC030591,BC039129,BC046099,BC048985,U51334,X98893 NP_003478,NP_631961,BAA33811,BAA33812,AAO13485,EAW80124,EAW80125,EAW80126,EAW80127,AAH46099,AAC50932,CAA67398,Q86X94,Q92804 Hs.402752 GDB:5584325 Npl3|RBP56|TAF2N|TAFII68|hTAFII68 protein-coding 1313879 TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the smallest SL1-specific TAF. Two transcripts encoding different isoforms have been identified. 7801123,9582279,11250901,12393749,12646563,16710414,15489334,15226435,15113842,14702039,12477932,11250903,11163245,10913176,10894955,8013460,16189514,15723054 9015 NM_139352,NM_005681,AL592148,CH471100,AK001054,AK290970,BC013808,CR612936,L39060 NP_647603,NP_005672,CAI40466,CAI40467,CAI40468,EAW93271,EAW93272,EAW93273,BAA91482,BAF83659,AAH13808,AAA62862,Q15573,ABM82007,ABM85189 Hs.153088 GDB:9954767 MGC:17061|RAFI48|SL1|TAFI48 protein-coding 1314966 TAF1B TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. 7801123,9582279,11250901,12393749,12646563,17456004,15815621,15723054,15489334,12477932,12140758,11250903,10913176,10894955 9014 NM_005680,AC010969,CH471053,AA746267,AK026521,BC018137,CR606132,CR616493,CR622846,L39061 NP_005671,AAX93272,EAX00974,EAX00975,EAX00976,AAH18137,AAA62863,Q53T94,ABM85585 Hs.654508 GDB:9954766 MGC:9349|RAF1B|RAFI63|SL1|TAFI63 protein-coding 1313816 TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Two transcripts encoding different isoforms have been identified. 1580863 7801123,9582279,11250901,12393749,12646563,16344560,16055704,15970593,15723054,15489334,15226435,14702039,12477932,11250903,10913176,10894955,16189514 9013 NM_005679,NM_139353,AC009123,AY158985,CH471114,AB209594,AK097031,AU130229,BC028131,CR605319,L39059 NP_005670,NP_647610,AAN38818,EAW95495,EAW95496,EAW95497,EAW95498,EAW95499,BAD92831,AAH28131,AAA62861,Q15572 Hs.153022 GDB:9954764 MGC:39976|SL1|TAFI110|TAFI95 protein-coding 1354016 TAF1L TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1580863 12217962,15489334,12477932 138474 NM_153809,AL589642,AF390562,BC116181,BC116182 NP_722516,AAN40840,Q0VG56,Q8IZX4 Hs.591086 GDB:11511203 MGC134910|TAF2A2 protein-coding 1353856 TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. 9418870,17081983,16083285,15489334,14702039,14580349,12601814,12477932,11564863,11406595,11337467,10469661,7835343,14729963,7801123,10409744,10373431,9774672,9726987,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461 6873 NM_003184,AC021945,AC107960,CH471060,AF026445,AF040701,AF057694,AK001618,AK001909,AL137601,AU098502,BC008473,BC018010,BC035673,BC047732,BC064830 NP_003175,EAW91991,EAW91992,EAW91993,AAC02966,AAC68502,AAC13540,CAB70836,AAH35673,AAH47732,AAH64830,Q6P1X5,Q9NT08,AAI46380 Hs.122752 GDB:595016 CIF150|TAF2B|TAFII150 protein-coding 1323524 TAF3 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 15870280,17081983,15489334,15302935,15164054,14702039,12477932,11438666 83860 NM_031923,AL159172,AL353754,AL390294,AJ292190,AK123254,AL117661,BC017320,BC024661,BC028077,BC045106,BC062352,BC073884,BC105593 NP_114129,CAI15661,CAH73142,CAC34475,CAB56032,AAH17320,AAH45106,AAH62352,AAH73884,AAI05594,Q05DA0,Q0VGM1,Q5VWG9 Hs.708133,Hs.709995 GDB:11502979 MGC25063|TAF140|TAFII140 protein-coding 1345040 TAF4 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. 1580863 8942982,9192867,14580349,18206971,15735663,15641800,14702039,12810884,12601814,12237304,11988536,11959914,11780052,11687654,11564872,11564863,11406595,10594036,10409662,10373431,9742090,9054383,8849451,8764062,8764009,8680883,8121496,7933101,7836461,7835343,12665565 6874 NM_003185,AL109911,AL137077,AY623115,CH471077,AK123937,U75308,Y11354 NP_003176,CAI11045,CAI11046,AAT38111,EAW75406,EAW75407,AAC50901,CAA72189,O00268,Q5TBP5 Hs.18857 GDB:595017 FLJ41943|TAF2C|TAF2C1|TAF4A|TAFII130|TAFII135 protein-coding 1319196 TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa TATA-binding protein associated factors (TAFs) participate, with TATA binding protein (TBP; MIM 600075), in the formation of the TFIID protein complex (see MIM 313650), which is involved in the initiation of gene transcription by RNA polymerase II (see MIM 180660).[supplied by OMIM] 1580863 10849440,9405375,8946909,1939271,2449431,18206971,16088961,15601843,12477932,11567023,10828057,8858156,9724652 6875 NM_005640,AC016839,AC022069,AC121320,CH471088,AB234096,AY888048,AY888049,BC016360,BC032791,Y09321 NP_005631,EAX01218,BAF51561,AAX14897,AAX14898,CAA70499,Q92750 Hs.369519 GDB:6089501 TAF2C2|TAFII105 protein-coding 1322729 TAF5 TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. 1580863 10373431,17227857,9045704,9405375,8946909,15637059,1939271,2449431,15489334,14580349,12601814,12477932,11564863,11406595,9488465,9373149,9311784,9054383,8942982,8884287,8849451,8764062,8764009,8758937,8680883,8125298,8121496,7933101,7836461,7835343,10523658,12660246 6877 NM_006951,AL591408,CH471066,AK223615,AK291229,AW136916,BC052268,BC136348,BG290312,CR610839,U75309,U80191,X95525 NP_008882,EAW49645,EAW49646,BAD97335,BAF83918,AAH52268,AAI36349,AAC50902,AAC51215,CAA64777,Q15542 Hs.96103 GDB:595018 TAF2D|TAFII100 protein-coding 1320985 TAF5L TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. 1580863 9674425,17476304,16829519,16672693,16206511,16126174,15489334,12601814,12477932,11564863,11406595,11124703,10373431,9674419,12660246 27097 NM_014409,NM_001025247,AL121990,CH471098,AF069736,AI251746,AJ009770,BC001569,BC041094,BE646579 NP_055224,NP_001020418,CAI22014,CAI22015,CAI22016,EAW69902,EAW69903,AAC39906,CAA08816,AAH41094,O75529,Q5TDI5,Q5TDI6 Hs.270621 GDB:11503005 PAF65B protein-coding 1323155 TAF6 TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Four isoforms have been identified but complete transcripts have been determined for only three isoforms. One of the isoforms has been shown to preclude binding of one of the other TFIID subunits, thereby reducing transcription and initiating signals that trigger apoptosis. 1580863 7667268,9045704,9405375,8946909,1939271,2449431,14580349,16964243,16344560,15601843,15489334,15328371,15302935,14702039,12829691,12690205,12601814,12477932,11583621,11564863,11406595,9584164,9177216,9054383,8849451,8764062,8764009,8680883,8262073,8121496,7933101,7836461,7835343,7644498,7597030,10523658,12665565,15641800 6878 U31659,NM_139122,AC073842,AY149894,CH236956,CH471091,AK097781,AU143362,BC018115,CR624352,CR627390,L25444,NM_139123,NM_139315,NM_005641 AAA63643,AAA84390,P49848,Q6AI29,ABM82538,ABM85730,NP_620835,NP_620834,AAN10295,EAL23851,EAL23852,EAL23853,EAW76588,EAW76589,EAW76590,EAW76591,EAW76592,AAH18115,CAH10485,NP_647476,NP_005632 Hs.489309 GDB:595019 DKFZp781E21155|MGC:8964|TAF2E|TAFII70|TAFII80|TAFII85 protein-coding 1320845 TAF6L TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. 1580863 9674425,16713569,16189514,15964547,15489334,14702039,12601814,12477932,11564863,11406595,9674419,12660246 10629 NM_006473,AP001160,CH471076,AF069735,AK289499,BC008785 NP_006464,EAW74093,EAW74094,EAW74095,EAW74096,EAW74097,AAC39905,BAF82188,Q9NUU2,Q9Y6J9 Hs.131846 GDB:9958060 FLJ11136|MGC4288|PAF65A protein-coding 1320545 TAF7 TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. 1580863 7824954,14580349,17320040,17081983,16407123,15489334,15078871,12676957,12477932,11592977,11564863,11340078,11230163,11005381,10896937,9632676,9488465,9311784,9054383,8849451,8794892,8764062,8764009,8702684,8680883,8121496,8012384,7933101,16189514,15893730,12665565,7836461,7835343 6879 NM_005642,NG_000012,AC005618,AF349038,CH471062,Z65839,Z65840,BC013397,BC022798,BC032737,U18062,X97999 NP_005633,AAK30585,EAW61966,AAH22798,AAH32737,AAB60347,CAA66636,Q15545,Q8TBD8,ABM81815,ABM84970 Hs.438838 GDB:455509 TAF2F|TAFII55 protein-coding 1350801 TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. 17714218,16597641,12665565,12477932,11279525 54457 NM_024885,AL109801,CH471115,Z68331,AF285595,AK026810,BC043391 NP_079161,EAX02847,EAX02848,EAX02849,EAX02850,EAX02851,EAX02852,CAI42014,CAI42015,CAI42017,AAK31974,BAB15560,AAH43391,Q5H9L4 Hs.223806 GDB:10796635 FLJ23157|TAF2Q|dJ738A13.1 protein-coding 1318181 TAF8 TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 14580349,15870280,14702039,12477932,11963920,11564872,9569032,7933101,7835343,7836461,8849451,8764062,9054383,8764009,8680883,8121496 129685 AL833401,BC018796,BC033728,BC119678,BC119679,BI828714,NM_138572,AL512274,AL513008,CH471081,AF086309,AF465841,AK057383 BAB71460,AAH33728,AAI19679,AAI19680,Q7Z7C8,NP_612639,CAI16781,CAI16782,CAI15202,CAI15203,EAX04078,EAX04079,EAX04080,AAP47094 Hs.520122 43|FLJ32821|II|TAF|TAFII43|TBN protein-coding 1314621 TAF9 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 10821850,7597030,9405375,8946909,1939271,2449431,14580349,17967894,17081983,16713569,16189514,16169070,16079131,15899866,15630091,15601843,15489334,15489227,15213396,12837753,12601814,12477932,11564863,11406595,11278372,11005381,10931946,10810093,10191103,9885574,9674425,9054383,9045704,8849451,8764062,8764009,8680883,8401585,8121496,7933101,7836461,7835343,7809597,7761466,7667268,12660246,12101418 6880 NM_001015891,NM_016283,NM_001015892,NM_003187,AC145132,AC145145,AY189986,CH471137,AF110777,AF151895,AI879232,AJ878880,AJ878881,BC003400,BC007349,BC007426,BC033320,BG490028,BG720149,BT019652,BX117839,CR606803,CR610818,U21858,U25112,U30504 NP_001015891,NP_057367,NP_001015892,NP_003178,AAN84793,EAW51290,EAW51291,EAW51292,EAW51293,EAW51294,EAW51295,EAW51296,EAW51297,AAF14860,AAD34132,CAI48030,CAI48031,AAH03400,AAH07349,AAH07426,AAH33320,AAV38458,AAC50153,AAA91318,AAA84389,Q16594,Q5F2S9,Q9Y3D8 Hs.653163 GDB:596030 AD-004|AK6|CGI-137|CINAP|CIP|MGC1603|MGC3647|MGC5067|MGC:1603|MGC:3647|MGC:5067|TAF2G|TAFII31|TAFII32|TAFIID32 protein-coding 1351331 TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is similar to one of the small subunits of TFIID, TBP-associated factor 9, and is also a subunit of TFIID. TAF9 and TAF9b share some functions but also have distinct roles in the transcriptional regulatory process. 1580863 16189514,15899866,15772651,15489334,12837753,12477932,10721692,7761466 51616 NM_015975,AL049589,BX276116,CH471104,AF220509,AK074449,BC009566,BC010350,BC071649,BC146952,BI544376,CR608622,CR624765,CR625261 NP_057059,EAW98600,EAW98601,AAG09711,AAH09566,AAH10350,AAH71649,AAI46953,Q9HBM6,ABM82854,ABM86041 Hs.592248,Hs.643614,Hs.702057 GDB:11503000 DN-7|DN7|TAF9L|TAFII31L|TFIID-31 taf9-like rna polymerase ii, tata box binding protein (tbp)-associated factor, 31kda protein-coding 1603488 TAF9P1 TAF9 pseudogene 1 12815422,9847074 360002 NG_004636,AC007742 pseudo 1603487 TAF9P2 TAF9 pseudogene 2 12815422,9847074 360003 NG_004636,AC007241 pseudo 1318496 TAGAP T-cell activation RhoGTPase activating protein This gene encodes a protein that may function as a Rho GTPase-activating protein. Transcript variants encoding distinct isoforms have been identified. 1580863 18356936,18311140,16375659,15489334,15177553,14702039,14574404,12477932 117289 NM_054114,NM_138810,AL035530,NM_152133,CH471051,AF385429,AF385430,AK025272,AK057193,AK097090,AL832662,BC015859,BC111731 NP_687034,NP_473455,NP_620165,CAI19231,CAI19232,CAI19233,EAW47637,EAW47638,EAW47639,AAM43830,AAM43831,BAB71378,BAC04947,AAH15859,AAI11732,Q8N103,Q96DM2 Hs.529984 GDB:11508485 FKSG15|FLJ32631|FLJ39771|MGC133247|MGC27381|TAGAP1 protein-coding 11324 TAGLN transgelin The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth muscle. Its expression is down-regulated in many cell lines, and this down-regulation may be an early and sensitive marker for the onset of transformation. A functional role of this protein is unclear. Two transcript variants encoding the same protein have been found for this gene. 1578340,1580863 17353931,9615232,17305610,17082327,15489334,12521938,12477932,12200029,11773051,11053353,9384215,9373149,9276683,9242426,8125298,8117285,7788527,1872880,1520290,16189514 1578340 6876 BI830888,BT019648,BT019649,CR536484,CR541681,CR592460,CR594882,CR597887,CR600882,CR605812,CR606909,CR612359,CR615909,CR626280,CR749612,D17409,M83106,M95787,NM_003186,AC022760,AF013711,AP000761,AP000892,NM_001001522,CH471065,D84342,EF445034,U73638,AB209555,AI817828,AK223002,BC004927,BC010946,BC024296,BC041624,BC065829,BC092415,BC093050,AP005018 AAV38454,AAV38455,CAG38723,CAG46482,CAH18406,BAA21811,AAA58375,AAA58351,Q01995,Q53GC9,Q59FA5,Q5U0D2,Q6FI52,Q96FG7,NP_001001522,NP_003177,AAC21582,EAW67298,EAW67299,EAW67300,EAW67301,EAW67302,BAA21839,ACA06080,BAD92792,BAD96722,AAH04927,AAH10946,AAH65829,AAH92415,AAH93050 Hs.632099 GDB:3922383 DKFZp686P11128|SM22|SMCC|TAGLN1|WS3-10 protein-coding 1321972 TAGLN2 transgelin 2 The protein encoded by this gene is a homolog of the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The function of this protein has not yet been determined. 1580863 17353931,16710414,16021519,15489334,12665801,12477932,10942595,9693045,9110174,8619474,7788527 8407 NM_003564,AL513485,CH471121,CR620277,CR620855,CR621323,CR621369,CR621718,CR621820,CR622397,CR623124,CR623657,CR624026,CR624984,CR625445,CR626596,D21261,CR607405,CR607855,CR608199,CR608276,CR608575,CR609407,CR609748,CR609777,CR610006,CR602105,CR611080,CR611788,CR612553,CR613098,CR613520,CR614100,CR616442,CR617101,CR618095,CR618563,CR618634,AK291562,AY007127,BC002616,BC009357,CR542126,CR542136,CR590131,CR590142,CR591926,CR592747,CR592851,CR594260,CR599010,CR601283,CR603278,CR604118,CR604476,CR606060 NP_003555,CAI14602,CAI14603,CAI14604,BAA04802,P37802,Q6FGI1,ABM82841,ABM86026,EAW52759,EAW52760,EAW52761,EAW52762,EAW52763,BAF84251,AAG01993,AAH02616,AAH09357,CAG46923,CAG46933 Hs.517168 GDB:9836465 HA1756|KIAA0120 protein-coding 1346933 TAGLN2P1 transgelin 2 pseudogene 1 493620 1344353 TAGLN2P2 transgelin 2 pseudogene 2 493621 1348892 TAGLN3 transgelin 3 68819,634083,1580863 8015377,15781144,15489334,14506410,12477932,12107411,11238712,10931946 68819,634083 29114 Q7Z517,Q9UI15 CR591700,CR600116,NM_001008272,NM_001008273,AC060225,CH471052,AF087855,AF112201,AF303058,BC015329,BG912462,BI752099,BI822856,BI919263,BM894229,BQ640029,BT007408,CK003985,NM_013259 Q7Z517,Q9UI15,NP_037391,NP_001008273,NP_001008274,EAW79685,EAW79686,EAW79687,AAP97165,AAF17189,AAL09330,AAH15329,AAP36076 Hs.169330 NP22|NP25 protein-coding 1315543 TAL1 T-cell acute lymphocytic leukemia 1 1578342,1580863 2303035,18187418,17962192,17910069,17878155,17507663,17503961,17460775,16849639,16778171,16763211,16710414,16621969,16298389,15961517,15923636,15677454,15383276,15086455,14970264,14729962,14715640,14651981,12867998,12239153,12091340,12010791,11904294,11118214,10688671,10490830,9824680,9819382,9507011,9171354,9111058,8437851,8423803,8414504,8159721,8084606,8078932,7957052,7833471,7568177,2740341,2602361,2247063,2230650,1964581,1886719,1453013,1450410,1396592,1311214 1578342 6886 AJ131016,AL135960,CH471059,M63589,X58621,X58622,X58623,CR624822,M29038,M61108,S53245,X51990,NM_003189 NP_003180,CAB72254,CAB72103,EAX06875,EAX06876,EAX06877,AAA36599,CAA41476,CAA41477,CAA41478,AAA36598,AAA36600,AAB19683,CAA36246,P17542,Q16509,Q9NY94,Q9UE36,AAI60033 Hs.705618,Hs.709194 GDB:120759 SCL|TCL5|tal-1 protein-coding 1351744 TAL2 T-cell acute lymphocytic leukemia 2 1599285,1580863 1763056,15489334,15164053,12567187,12477932,8152805,7957052,1450410 1599285 6887 S69377,BC069422,BC126373,BC126375,NM_005421,AL158070,CH471105,M81078 AAC60629,AAH69422,AAI26374,AAI26376,Q16559,NP_005412,EAW59002,AAA60613 Hs.247978 GDB:128434 protein-coding 733188 TALDO1 transaldolase 1 Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. 737673,1599574,1599293,1580863,1641814,1300048,1641803 17503352,17095351,17081983,16092052,15489334,15383276,14702349,12477932,11283793,10869557,10702296,9339383,9119412,8300619,7964452,16189514,15231747,9524206,16130169,17603756 737673,1599574,1599293,1641814,1641803 6888 NM_006755,AF010398,AF010399,AF010400,AF058913,AP006621,CH471158,L27346,U62747,BC009680,BC010103,BC018847,CR599118,CR607805,CR611492,CR619185,L19437 NP_006746,AAC52068,AAF40478,EAX02377,EAX02378,EAX02379,AAL31313,AAC51151,AAH10103,AAH18847,AAB53943,P37837,Q8WZ45,Q96DB1,Q9UMF8 Hs.438678 GDB:9176844 TAL|TAL-H|TALDOR|TALH protein-coding 1353384 TALDOP1 transaldolase pseudogene 1 8300619 6889 GDB:305489 1604561 TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 15673434,14702039,12477932,12107410,11214970 85461 NM_033394,AC009307,AC010093,CH471058,AA773835,AB051515,AK000401,AK094285,AK128859,AL833258,BC037329,BX648238,BX648327,CA394398 NP_203752,EAX11417,EAX11418,BAB21819,AAH37329,Q9C0D5 Hs.158728 KIAA1728|ROLSB|TANC protein-coding 1603312 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 14702039,10997877,10574461 26115 NM_025185,AC005828,AC005972,AC006270,AC015923,AC037445,AB032974,AB046856,AJ278120,AK001077,AK021886,CR601835 NP_079461,BAA86462,BAB13462,CAB92314,BAA91495,BAB13926,Q9HCD6 Hs.410889 DKFZP564D166|FLJ10215|FLJ11824|KIAA1148|KIAA1636|ROLSA|rols protein-coding 734196 TANK TRAF family member-associated NFKB activator The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Two transcript variants encoding different isoforms have been found for this gene. 1580863 12005438,8710854,17823124,17568778,17327220,17081983,16336209,16189514,15489334,14743216,14517219,14499357,12477932,12133833,11279055,10759890,10581243,10490605,8855313 10010 NM_133484,AC009299,AC009313,AC078943,CH471058,BC003388,BC067779,BT009855,CR602454,CR612977,U59863,U63830,NM_004180 NP_004171,NP_597841,AAX88939,AAY14785,EAX11374,EAX11375,EAX11376,EAX11377,AAH03388,AAH67779,AAP88857,AAC50681,AAC50770,Q4ZG76,Q53TI5,Q6NW12,Q7Z4J6,Q92844 Hs.556496 GDB:9958899 I-TRAF|TRAF2 traf family member-associated nf-kappa b activator protein-coding 1351422 TAOK1 TAO kinase 1 14517247,17417629,17396146,17081983,16964243,16407310,15302935,14976552,14702039,13679851,12477932,12107410,10737800,10718198,10497253,9786855 57551 NM_020791,AC068025,AC068588,AC090698,CH471159,CQ834802,AB037782,AF263312,AK024376,AY049015,BC032793,BC133039,BE772351,CA395289 NP_065842,EAW51188,EAW51189,EAW51190,CAH05616,BAA92599,AAG38502,BAB14901,AAL12217,AAH32793,AAI33040,Q7L7X3,Q8N550 Hs.631758 FLJ14314|KIAA1361|MAP3K16|MARKK|PSK2|TAO1 protein-coding 1351729 TAOK2 TAO kinase 2 1299457 10660600,17158878,16893890,14702039,13679851,12975309,12665513,12639963,12477932,12421765,11279118,10497253,10048485,9786855 1299457 9344 NM_004783,NM_016151,AC093512,CH471238,AB020688,AF061943,AF263313,AK057589,AK291473,AL137701,AY358942,BC031825,BC051798,BC054495,BC136653,BC142663,BC151221,BC152413,BC015204 NP_004774,NP_057235,EAW79963,EAW79964,EAW79965,BAA74904,AAD45616,AAG38503,BAF84162,CAB70882,AAQ89301,AAH15204,AAH31825,AAH51798,AAI36654,AAI42664,AAI51222,AAI52414,Q6PIN8,Q86V37,Q9UL54 Hs.291623 KIAA0881|MAP3K17|PSK|PSK1|TAO1|TAO2 protein-coding 1605388 TAOK3 TAO kinase 3 10559204,10924369,16344560,15489334,14996095,14702039,13679851,12477932,11278723,16189514 51347 AC073596,CH471054,AA744362,AF135158,AF161373,AF179867,AF181985,AF263311,AF328731,AI057643,AK056370,AK289558,NM_016281,AC026366,AC026367,AL833460,AL833731,BC002756,BT007185,DB066061 EAW98124,EAW98125,AAG09131,AAF28933,AAF14559,AAF25817,AAG38501,AAN09723,NP_057365,BAF82247,CAH56239,AAH02756,AAP35849,Q9H2K8,Q9P0C6,ABM81622,ABM84807 Hs.644420 DKFZp666H245|DPK|FLJ31808|JIK|MAP3K18 protein-coding 736475 TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 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 involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. 1331525,1580863 17418234,17382375,11157746,11096258,10508608,10227971,10074494,9774463,9545232,9310490,9175839,9103419,8955196,8805302,8670825,8640228,8568858,8458375,8453065,8248212,8168860,2342577,2259384,2259383,1570316,1529427,1453454,17245734,17164240,17068338,16956670,16923719,16864587,16731921,16691491,16640035,16634865,16604487,16407277,16356928,16216677,16215317,16191421,16189514,16174096,16112028,16061226,15905524,15897556,15887980,15778351,15711027,15686587,15548263,15488952,15343265,15336779,15322097,15306733,14976605,14749980,14702039,12640628,12634240,12594855,12582163,12539042,12507827,12505156,12485523,12477932,12234057,12225333,12213826,12047361,12026214,12018331,11960305,11788900,11775239,11774612,11737038,11591192,11532960,11381133,11250044,11250043,12645939,11194890,11169396,17055437,11133832,1946428,18433405,18342853,18248301,18199642,18191725,18071882,17982230,17947644,17917315,17875943,17649665,17581627,17525827,17498556,17491658,14694183,14679198,14551602,12911283,12878362,12857899,12827444,12786997,12777979,12777379,12729048,12687213,12682044,12648282,12648225 1331525 6890 X87344,AB012644,AK123494,AK130176,AY523970,AY523971,BC014081,BX648013,CR593495,CR596099,L21204,L21205,L21206,L21207,L21208,S70256,S70266,S70274,X57521,X57522,AB012645,AF492485,AL669918,AL671681,AL935043,AY349134,BX927138,CH471081,CR753889,NM_000593,CR762476,CR933844,U07197,U07198,U16763,X66401 CAA60785,BAA32813,AAS55411,AAS55412,AAH14081,AAC12902,AAC12903,AAC12904,AAC12905,AAC12906,AAD14054,AAD14055,AAD14056,CAA40740,CAA40741,O94774,Q03518,Q12847,Q12848,Q13013,Q16148,Q53WZ1,Q69DM1,Q6QWC0,Q6QWC1,Q8TD77,Q96CP4,Q9UEE1,ABM87349,ABW03876,CAA47025,NP_000584,BAA32814,AAM11658,CAI18140,CAI17714,CAI18626,AAR05812,CAQ08449,EAX03646,EAX03647,EAX03648,EAX03649,EAX03650,EAX03651,EAX03652,CAQ10287,CAQ08495,CAQ08906,AAB60321,AAB60322,AAA89080 Hs.352018 GDB:132668 ABC17|ABCB2|APT1|D6S114E|FLJ26666|FLJ41500|PSF1|RING4|TAP1*0102N|TAP1N protein-coding 1348865 TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 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. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. 1580863,1601413 12047747,1946428,11133832,11532960,10835348,12202157,18433405,18309376,18248301,18071882,17982230,17947644,17581627,17525827,17491658,17245734,17192492,17068338,16923719,16886895,16721835,16690408,16634865,16595160,16395595,16356928,16216677,16215317,16210614,16191421,16174096,16112028,16061226,15887980,15548263,15489334,15488952,15385740,15343265,15336779,15318034,14749980,12911283,12826376,12786999,12786997,12777979,12777379,12729048,12717621,12687213,12682044,12648282,12648225,12645939,12634240,12594855,12507827,12505156,12485523,12477932,12234057,12225333,12213826,12047361,12026214,12018331,11960305,11916171,11775239,11774612,11737038,11494532,11381133,11294565,11229461,11157746,11096258,10560675,10508608,10227971,9916708,9672156,9551969,9373149,14679198,12963978,9324024,9175839,9103419,9002450,8955196,8805302,8773329,8670825,8458375,8453065,8428770,8162639,8125298,7835969,7792761,7517574,2259383,1741401,1570316,1538751,1529427,1453454,16189514,8568858 1601413 6891 NM_018833,NM_000544,AF100418,BC002751,BG423357,BT009906,L09191,L09271,L10287,M74447,M84748,U07844,Z22935,Z22936,AF136750,AF415199,AL669918,AL671681,AL935043,BX296564,BX682530,BX927138,CH471081,AL833658,CR753889,CR762476,CT009500,D42066,D78570,X66401,X87344,AB073779,AB208953,AF078671,AF105151,AF152583,AF176984,AK222823,AK223300,AK225657,AK225693,AK292963,AY007425 NP_061313,NP_000535,AAD23381,AAP88908,AAA58648,AAA58649,AAA59841,AAA79901,CAA80522,CAA80523,O95410,Q03519,Q15547,Q53FI6,Q59H06,AAD23601,AAL07496,CAI18136,CAI18137,CAI17710,CAI17711,CAI18621,CAI18622,AAG12163,CAI41935,CAI41936,CAQ08443,CAQ08444,Q5HY71,Q5JNW1,Q5QNS1,Q96P38,Q96PT8,Q99591,Q9H4M2,Q9UMW6,Q9UP03,Q9UQ60,AAI52840,EAX03642,EAX03643,CAQ10282,CAQ10283,CAQ08490,CAQ08491,CAQ08243,BAA07665,BAA11414,CAA47027,CAA60788,BAB71769,BAD92190,AAD31384,AAD12059,AAD32715,AAD50509,BAD96543,BAD97020,BAF85652 Hs.502 GDB:132669 ABC18|ABCB3|APT2|D6S217E|PSF2|RING11 protein-coding 735382 TAPBP TAP binding protein (tapasin) This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. 1599296,1580863 12788224,9238042,9271576,11884415,18248301,18196518,18039656,17498802,17389020,16322289,16193070,15743475,15634919,15489334,15455354,15163903,14978101,14668790,14607930,14574404,14519625,13678524,12682852,12594855,12582157,12477932,12463753,12213826,12200052,12149238,12018464,11972874,11970875,11862402,11823531,11132161,10636848,10508608,10382748,10088603,9802609,9545376,9545232,9521053,9110174,8805302,8769474,8619474 1599296 6892 NM_003190,NM_172208,NM_172209,AB012622,AB012920,AL662820,AL662827,BX248088,CH471081,CR759786,Z97183,AB010639,AF009510,AF029750,AF067286,AF314222,AW451052,AY007154,BC064966,BC080574,CR591254,CR591308,CR600344,CR614167,CR618722,Y13582 NP_003181,NP_757345,NP_757346,BAA28758,BAA28759,CAI18120,CAI17523,CAI41784,EAX03715,EAX03716,EAX03717,EAX03718,EAX03719,EAX03720,CAQ08259,CAQ08260,BAA28757,AAC20076,AAB82949,AAD32924,AAG33061,AAH64966,AAH80574,CAA73909,O15533,Q5STL1,Q5STR8,Q6P1N7 Hs.370937 GDB:9784212 NGS17|TAPA|TPN|TPSN tap binding protein protein-coding 1317352 TAPBPL TAP binding protein-like Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM] 737633,1580863 15489334,15340161,14702039,12477932,11920573,9373149,8125298,18340469,16344560 737633 55080 NM_018009,AC005840,CH471116,CS072294,AI184901,AI273155,AK001005,AK002056,AK098035,AK222956,AK223163,BC015017,CR594087,CR598232,CR604472,CR622967,CR997450,DB054664 NP_060479,EAW88797,EAW88798,EAW88799,CAI93432,BAA91465,BAB41077,BAD96676,BAD96883,AAH15017,Q53FW8,Q53GH5,Q9BX59 Hs.504597 FLJ10143|TAPBP-R|TAPBPR protein-coding 1605561 TAPT1 transmembrane anterior posterior transformation 1 This gene encodes a highly conserved, putative transmembrane protein. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. 17151244,16303743,12477932,10640539,8605045 202018 NM_153365,AC108063,AC110088,CH471069,CQ783461,CQ834444,AA811306,AF189251,AK074494,BC066899,DB461077 NP_699196,EAW92754,EAW92755,EAW92756,EAW92757,EAW92758,EAW92759,EAW92760,EAW92761,EAW92762,CAF86657,CAH05437,AAF28308,BAC11022,AAH66899,Q6NXT6 Hs.479223 CMVFR|FLJ90013 protein-coding 1349936 TAPVR1 total anomalous pulmonary venous return 1 6893 GDB:392646 1347235 TARBP1 TAR (HIV-1) RNA binding protein 1 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. 1580863 8846792,16710414,14702039,12477932,12458222,8626763,7638159,1936997,1752441 6894 NM_005646,AL136124,AL355472,CH471098,AA714641,AK055044,BC016023,U38847 NP_005637,CAI22931,EAW69993,AAC50379,Q13395,AAI56250 Hs.498115 GDB:136269 FLJ30482|TRM3|TRP-185|TRP185 protein-coding 1316539 TARBP2 TAR (HIV-1) RNA binding protein 2 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. 1580863 11641396,16142218,2011739,18178619,17452327,17360756,16343534,15123692,14585207,12477932,12023963,11443112,11438532,11228241,11060498,10759868,10330179,8723388,8455607,7774957,7568151,16189514 6895 CR593716,CR597935,CR599054,CR602082,CR606145,CR606778,CR608491,CR608571,CR610050,CR612616,CR612865,CR613878,CR619705,CR626085,CR626705,M60801,U08998,NM_004178,NM_134324,AC023509,AF281068,CH471054,AK290737,BC002419,BC005860,BI771121,BT007140,NM_134323 AAA36765,AAB50581,Q15633,Q8WY32,Q8WY33,Q9BRY2,ABM84475,ABM84857,NP_599150,NP_004169,NP_599151,AAL55730,AAL55731,EAW96717,EAW96718,EAW96719,EAW96720,BAF83426,AAH05860,AAP35804 Hs.326 GDB:320003 TRBP|TRBP1|TRBP2 tar (hiv) rna binding protein 2 protein-coding 1353285 TARBP2P TAR (HIV-1) RNA binding protein 2 pseudogene 11060498,7774957,2011739 6896 NG_001199,AC007751,AF197477 GDB:320009 TRBP tar (hiv) rna binding protein 2 pseudogene pseudo 1322081 TARDBP TAR DNA binding protein HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. 1580863 8599929,15231747,7745706,18372902,18309045,18305152,18288693,18088371,18068872,17981595,17614162,17569066,17492294,17360763,17081983,17023659,16710414,16381901,16169070,16157593,15489336,15489334,12477932,12361981,11470789,11285240,11230166,11076863,9373149,8889548,8125298,16189514 23435 NG_007289,AL109811,CH471130,AF311304,AK222754,AL045296,AL050265,BC001487,BC059955,BC071657,BC095435,BI464234,BM716882,CD703666,NM_007375,CR611899,EF434181,EF434182,EF434183,U23731,CR533534 NP_031401,EAW71669,EAW71670,EAW71671,EAW71672,EAW71673,AAG47782,BAD96474,CAB43367,AAH71657,AAH95435,CAG38565,ABO32290,ABO32291,ABO32292,AAA70033,Q0JUL7,Q13148,Q53H27,Q5TEQ7,Q5TEQ8,Q9H256,CAL37794,ABZ92471 Hs.300624,Hs.635053,Hs.709233 GDB:9956557 TDP-43 protein-coding 1343582 TARDBPL TAR DNA binding protein-like 128682 AL359954 GDB:11507996 bA318P23.1 protein-coding 1604885 TARP TCR gamma alternate reading frame protein In some non-lymphoid tissues, the unrearranged T cell receptor gamma (TRG@) locus is expressed. The resulting transcript contains a subset of the TRG@ gene segments and is shorter than TRG@ transcripts expressed in lymphoid tissues. This RefSeq record represents the unrearranged TRG@ locus transcript; the complete TRG@ locus is represented by the genomic RefSeq NG_001336. The transcript represented by this RefSeq has two open reading frames (ORFs) that encode different proteins. The downstream ORF is in the same frame as TRG@ and its protein product is similar to TRG@ proteins. The upstream ORF uses a different reading frame and encodes a novel protein. 15150260,12865322,12477932,11719440,10931945,10430935,3112943,3102973,2961573,2955517,2949984 445347 NM_001003799,NM_001003806,NG_001336,AC006033,AF151104,CH236951,AF151103,BC017861,BC030554,BC105589,BF674593,M16804,M17324,M17325,M27331,M27332,M27334,M30894,X06774,X06775,Y00790 NP_001003799,NP_001003806,AAG29337,AAI05590,AAA61124,AAB63313,AAB63314,AAA61112,AAA61113,AAA61114,AAA61123,CAA29941,CAA29942,CAA29943,CAA68744,Q0VGM3 Hs.534032 CD3G|TCRG|TCRGC1|TCRGC2 protein-coding 1347839 TARS threonyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family 1580863 17220478,17353931,2033077,17203973,15489334,14702039,12477932,9373149,8125298,8049265,7626230,7118437,7118399,3464105,2747635,16189514 6897 NM_152295,AC025441,AC034231,CH471118,AK095852,AK222804,AK292346,AW246273,BC000517,BC003699,BC010578,BC088355,BF028586,CR598000,M63180 NP_689508,EAX10803,EAX10804,BAD96524,BAF85035,AAH00517,AAH10578,AAH88355,AAB04939,P26639,Q53GX7,Q5M7Z9,ABM82342,ABM85516 Hs.481860 GDB:120397 MGC9344|ThrRS protein-coding 1344526 TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative) 16710414,15779907,15489334,14702039,12477932,9373149,8125298 80222 NM_025150,AL356356,CH471121,AK022590,AK222814,AK225368,AL512732,AY450558,BC000541,BC007824,BC009997 NP_079426,CAI15487,CAI15488,CAI15489,CAI15490,EAW53548,EAW53549,EAW53550,BAB14117,BAD96534,CAC21664,AAR23527,AAH00541,AAH07824,AAH09997,Q5T5E9,Q6ST48,Q9BW92,Q9H045,Q9H9V2 Hs.288974 FLJ12528|TARSL1 threonyl-trna synthetase-like 1 protein-coding 1351710 TARSL2 threonyl-tRNA synthetase-like 2 1580863 14702039,12477932,8889548 123283 NM_152334,AC027559,AC090164,CH471101,AK056653,AK057734,AL833188,AW161214,BC035827,BC069346,BC069811,BC074887,BC132671,BC136315,BE856588,BU677165 NP_689547,EAX02316,BAB71241,BAB71554,AAH69346,AAH69811,AAH74887,AAI32672,AAI36316 Hs.657163 FLJ25005 protein-coding 732021 TAS1R1 taste receptor, type 1, member 1 The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding several different isoforms have been found for this gene. 11917125,17724330,17506496,17108952,16710414,15353592,12856281,11894099,11891061,10052456 80835 NM_177539,NM_177540,NM_177541,AB065618,AL591866,CH471130,CS250328,NM_138697,CS250330,CS250332,CS250334,AF387617,AF387618,AF387619,AF387620,AK292014,BK000153,CA426652 NP_619642,NP_803883,NP_803884,NP_803885,BAC05845,CAI16073,CAI16074,CAI16075,CAI16076,EAW71551,EAW71552,EAW71553,EAW71554,CAJ58406,CAJ58407,CAJ58408,CAJ58409,AAL91358,AAL91359,AAL91360,AAL91361,BAF84703,DAA00012,Q5SY23,Q7RTX1 Hs.124574 GDB:10807092 GPR70|T1R1|TR1|gm148 protein-coding 1353489 TAS1R2 taste receptor, type 1, member 2 1580863 11917125,16720576,17935609,17108952,16710414,16633339,14636554,12856281,12706725,10052456 80834 NM_152232,AF458154,AL831755,BX537160,CH471134,BK000151 NP_689418,AAM12239,CAH69954,EAW94857,DAA00019,Q8TE23,AAI41438 Hs.553548 GDB:10807093 GPR71|T1R2|TR2 protein-coding 1344836 TAS1R3 taste receptor, type 1, member 3 The TAS1R3 gene encodes the human homolog of mouse Sac, a major determinant of differences between sweet-sensitive and -insensitive mouse strains in their responsiveness to sucrose, saccharine, and other sweeteners.[supplied by OMIM] 11917125,16720576,17935609,17928076,17499612,17108952,16710414,16633339,15668251,15585941,15353592,15299024,12892531,12706725,11894099,11326277,11319557 83756 NM_152228,AB065647,AC026283,AL139287,CH471183,AK122959,BK000152 NP_689414,BAC05873,CAI23184,EAW56228,DAA00013,Q7RTX0,AAI52913 Hs.708583 GDB:10807094 T1R3 protein-coding 1352499 TAS2R1 taste receptor, type 2, member 1 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10766221,10761935 634075 50834 NM_019599,AB198983,AB198984,AB198985,AC003015,AC026787,AC034214,AF227129,AY724812,CH471102,CS008129,BC095521,BC101729,BC101731 NP_062545,BAD97889,BAD97890,BAD97891,AAF43902,AAU21051,EAX08075,CAI53516,AAH95521,AAI01730,AAI01732,Q502V6,Q50L07,Q50L08,Q9NYW7 Hs.567492 GDB:11504449 MGC126778|MGC126780|T2R1|TRB7 protein-coding 1347690 TAS2R10 taste receptor, type 2, member 10 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15759003,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50839 NM_023921,AB199073,AB199074,AB199075,AC006518,AF227136,AY724946,CH471094,CS008213,BC069089,BC101762,BC101764 NP_076410,BAD97974,BAD97975,BAD97976,AAF43909,AAU21148,EAW96211,CAI53558,AAH69089,AAI01763,AAI01765,Q50KS2,Q50KS3,Q50KS4,Q9NYW0 Hs.533756 GDB:11504451 MGC126811|MGC126813|T2R10|TRB2 protein-coding 1353239 TAS2R12 taste receptor, type 2, member 12 pseudogene 15744053 266656 NG_005300,AC006518,AX097717 GDB:11510600 T2R12 taste receptor, type 2, member 12 pseudo 1344570 TAS2R13 taste receptor, type 2, member 13 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50838 NM_023920,AB199106,AB199107,AB199108,AC006518,AF227137,AY724945,CH471094,CS008215,BC069376,BC095518,BC115402,BC115403 NP_076409,BAD97991,BAD97992,BAD97993,AAF43910,AAU21147,EAW96218,CAI53559,AAH69376,AAH95518,AAI15403,Q50KQ5,Q50KQ6,Q9NYV9 Hs.679407 GDB:11504453 T2R13|TRB3 protein-coding 1349558 TAS2R14 taste receptor, type 2, member 14 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,16720576,16335952,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50840 NM_023922,AB199117,AB199118,AB199119,AC006518,AF227138,AY724944,CH471094,CS008219,AK123548,BC069148,BC101993,BC101994,BC103699 NP_076411,BAD98002,BAD98003,BAD98004,AAF43911,AAU21146,EAW96222,CAI53561,BAC85643,AAH69148,AAI01995,AAI03700,Q50KP5,Q6ZW62,Q9NYV8,AAI01994 Hs.408153,Hs.679406 GDB:11504455 MGC125491|MGC125492|T2R14|TRB1 protein-coding 1352924 TAS2R15 taste receptor, type 2, member 15 pseudogene 15744053 266657 NG_005301,AC006518,AX097723 GDB:11510601 T2R15 taste receptor, type 2, member 15 pseudo 1343606 TAS2R16 taste receptor, type 2, member 16 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. 634075,1580863 16720576,10761934,17250611,16385453,15759003,15744053,15496549,15489334,12853948,12581520,12477932,12379855,12139982,11696554,10774719,10766242,10766221,10761935 634075 50833 BC095524,NM_016945,AB199132,AB199133,AB199134,AC004838,AF227139,AY724962,CH236947,CH471070,CS008227 AAH95524,Q50KN5,Q50KN6,Q9NYV7,NP_058641,BAD98011,BAD98012,BAD98013,AAP21892,AAF43912,AAU21158,EAL24338,EAW83581,CAI53565 Hs.272395 GDB:11504587 T2R16 protein-coding 1348969 TAS2R18 taste receptor, type 2, member 18 266658 AX097728 GDB:11510602 T2R18 protein-coding 1353941 TAS2R19 taste receptor, type 2, member 19 266659 AX097730 GDB:11510603 T2R19 protein-coding 1349734 TAS2R2 taste receptor, type 2, member 2 pseudogene 15744053 338396 NG_005302,AC013470,AX097698,CH236948 T2R02|T2R2 taste receptor, type 2, member 2 pseudo 1343952 TAS2R20 taste receptor, type 2, member 20 266660 AX097732 GDB:11510604 T2R20 protein-coding 1348945 TAS2R22 taste receptor, type 2, member 22 266661 AX097735 GDB:11510605 T2R22 miscrna 1352038 TAS2R23 taste receptor, type 2, member 23 266662 AX097737 GDB:11510606 T2R23 protein-coding 1345631 TAS2R3 taste receptor, type 2, member 3 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. 1580863 10761934,15744053,15496549,15489334,12853948,12690205,12581520,12477932,12139982,11696554,11437385,10774719,10766242,10766221,10761935 50831 CH471070,CS008135,CS300826,BC069337,BC095523,NM_016943,AB199002,AB199003,AB199004,AC004979,AF227130,AY724961,CH236950 EAL24017,EAW83982,CAI53519,CAK32490,AAH69337,AAH95523,Q50KY9,Q50KZ1,Q9NYW6,NP_058639,BAD97907,BAD97908,BAD97909,AAS02038,AAF43903,AAU21157 Hs.676011 GDB:11504589 T2R3 protein-coding 1350051 TAS2R30 taste receptor, type 2, member 30 266663 AX097746 GDB:11510607 T2R30 protein-coding 1353388 TAS2R31 taste receptor, type 2, member 31 266664 AX097748 GDB:11510608 T2R31 protein-coding 1346808 TAS2R33 taste receptor, type 2, member 33 266665 AX097751 GDB:11510609 T2R33 protein-coding 1353414 TAS2R36 taste receptor, type 2, member 36 266666 AX097755 GDB:11510610 T2R36 protein-coding 1344875 TAS2R37 taste receptor, type 2, member 37 266667 AX097757 GDB:11510611 T2R37 protein-coding 1346793 TAS2R38 taste receptor, type 2, member 38 1580863 18209019,17662150,17250611,16979544,16607493,16298720,15883422,15744053,15733260,15687429,15496549,15489334,15466815,15337684,14997422,12690205,12624758,12595690,12584440,12581520,12477932,12379855,12139982,11696554,6745938 5726 NM_176817,AB199146,AB199147,AB199148,AC073647,AF494231,AY114095,AY258597,AY258598,AY724960,CH236950,CH471070,CS008247,BC104933,BC104937 NP_789787,BAD98025,BAD98026,BAD98027,AAM19322,AAM63545,AAP14666,AAP14667,AAU21156,EAL24011,EAW83993,CAI53575,AAI04934,AAI04938,P59533,Q50KM1,Q50KM2,Q50KM3,Q86UK4 Hs.647085 GDB:11510231 PTC|T2R61 protein-coding 1350058 TAS2R39 taste receptor, type 2, member 39 1580863 15744053,15496549,15489334,12581520,12477932,12379855,12139982,11696554 259285 CS008249,BC100947,BC100948,BC114952,NM_176881,AB199156,AB199157,AB199158,AC073342,AF494230,AY724959,CH236959,CH471198 CAI53576,AAI00948,AAI00949,AAI14953,P59534,Q50KL2,NP_795362,BAD98035,BAD98036,BAD98037,AAM19321,AAU21155,EAW51884,EAW51885,EAW51886 Hs.553660 GDB:11510232 protein-coding 1342891 TAS2R4 taste receptor, type 2, member 4 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. 634075,1580863 10761934,15744053,15496549,12853948,12581520,12139982,11696554,11437385,10774719,10766242,10766221,10761935 634075 50832 NM_016944,AB199016,AB199017,AB199018,AC004979,AF227131,AJ415015,AJ415131,AJ415288,AJ415400,AY724958,CH236950,CH471070,CS008143,BC130439,BC136508 NP_058640,BAD97921,BAD97922,BAD97923,AAS02039,AAF43904,CAC94173,CAC94265,CAC94358,CAC94451,AAU21154,EAL24016,EAW83983,CAI53523,AAI30440,AAI36509,Q50KX5,Q50KX7,Q9NYW5 Hs.669863 GDB:11504591 MGC163311|T2R4 protein-coding 1351253 TAS2R40 taste receptor, type 2, member 40 1580863 15744053,15496549,15489334,12690205,12581520,12477932,12379855,12139982,11696554 259286 NM_176882,AB199167,AB199168,AB199169,AC073342,AF494229,AY724957,CH236959,CH471198,CS008253,BC101795,BC101797 NP_795363,BAD98041,BAD98042,BAD98043,AAM19320,AAU21153,EAL23782,EAW51882,CAI53578,AAI01796,AAI01798,P59535,Q50KK5,Q50KK6 Hs.352241 GDB:11510233 GPR60|MGC126844|MGC126846|T2R40 protein-coding 1353850 TAS2R41 taste receptor, type 2, member 41 1580863 15744053,15496549,12584440,12581520,12477932,12379855,12139982,11696554 259287 AB199177,AB199178,AB199179,AC073264,AF494232,AY114093,AY724956,CH236959,CS008263,CS008267,BC101157,BC101158,NM_176883 NP_795364,BAD98051,BAD98052,BAD98053,AAM19323,AAM63543,AAU21152,CAI53583,CAI53585,AAI01158,AAI01159,P59536,Q495I2,Q50KJ5,Q50KJ6,Q50KJ7 Hs.650648 GDB:11510234 MGC119928|MGC119929|T2R41|T2R59 protein-coding 1344406 TAS2R42 taste receptor, type 2, member 42 15744053,15496549,12679530,16541075 353164 Q50KD4,Q50KD5,Q50KD6,Q7RTR8 NM_181429,AB199240,AB199241,AB199242,AC010176,AX097739,AY724953,BK001099,CH471094,BC131742 NP_852094,BAD98112,BAD98113,BAD98114,AAU21149,DAA01206,EAW96229,AAI31743,Q50KD4,Q50KD5,Q50KD6,Q7RTR8 Hs.553716 GDB:11510235 T2R24|T2R55|hT2R55 protein-coding 1346884 TAS2R43 taste receptor, type 2, member 43 1580863 16720576,17702579,15744053,15537898,15496549,15489334,12584440,12581520,12477932,12379855,12139982,11696554 259289 NM_176884,AB199182,AC018630,AF494237,AY114089,AY724943,BC117423 NP_795365,BAD98056,AAM19328,AAM63539,AAU21145,AAI17424,P59537,Q50KJ2 Hs.688195 GDB:11510236 T2R43|T2R52 protein-coding 1345755 TAS2R44 taste receptor, type 2, member 44 1580863 17702579,15537898,15496549,15489334,15337684,12584440,12581520,12477932,12379855,12139982,11696554 259290 NM_176885,AC018630,AF494228,AY114090,AY724942,CH471094,CS008275,CS008277,BC117421 AAM63540,NP_795366,AAM19319,AAU21144,EAW96226,CAI53589,CAI53590,P59538,AAI17422 Hs.688197 GDB:11510237 T2R44|T2R53 protein-coding 1349656 TAS2R45 taste receptor, type 2, member 45 1580863 15744053,12581520,12477932,12379855,12139982,11696554 259291 NM_176886,AB199191,AB199192,AF494226,CH471094,AF264628,BC101154,BC101155,BC101156 NP_795367,BAD98065,BAD98066,AAM19317,EAW96228,AAG03020,AAI01155,AAI01156,AAI01157,P59539,Q495I5,Q50KI2,Q9HD50 Hs.287378 GDB:11510238 GPR59|MGC119923|MGC119924|MGC119925|ZG24P protein-coding 1353935 TAS2R46 taste receptor, type 2, member 46 1580863 15744053,15496549,12584440,12581520,12477932,12379855,12139982,11696554 259292 NM_176887,AB199204,AB199205,AC018630,AF494227,AY114091,AY724941,CH471094,CS008289,BC115401 NP_795368,BAD98077,BAD98078,AAM19318,AAM63541,AAU21143,EAW96227,CAI53596,AAI15402,P59540,Q14C67,Q50KH0,Q50KH1 Hs.688193 GDB:11510239 MGC134865|T2R46|T2R54 protein-coding 1343190 TAS2R47 taste receptor, type 2, member 47 1580863 11696554,15744053,15496549,12581520,12379855,12139982 259293 NM_001097643,AB199208,AC018630,AF494233,AY724940,CS008297 BAD98081,AAM19324,AAU21142,NP_001091112,CAI53600,P59541,Q50KG7,AAI56866 Hs.679464 GDB:11510240 protein-coding 1346988 TAS2R48 taste receptor, type 2, member 48 1580863 17081983,15744053,15496549,15489334,12581520,12477932,12379855,12139982,11696554 259294 NM_176888,AB199215,AB199216,AB199217,AC018630,AF494234,AY724939,CH471094,CS008305,AF116728,BC101804,BC111998 NP_795369,BAD98088,BAD98089,BAD98090,AAM19325,AAU21141,EAW96225,CAI53604,AAO15304,AAI01805,AAI11999,P59542,Q50KF8,Q50KF9,Q71U75 Hs.687025,Hs.688196 GDB:11510241 MGC126853|MGC138203|MSTP058|T2R48 protein-coding 1350205 TAS2R49 taste receptor, type 2, member 49 1580863 15744053,15496549,15489334,12584440,12581520,12477932,12379855,12139982,11696554 259295 NM_176889,AB199221,AB199222,AB199223,AC018630,AF494236,AY114092,AY724938,CH471094,CS008321,BC100915,BC100916,BC100917,BC100918,BC113843,BC114451,N24163 NP_795370,BAD98094,BAD98095,BAD98096,AAM19327,AAM63542,AAU21140,EAW96224,CAI53612,AAI00916,AAI00917,AAI00918,AAI00919,AAI13844,AAI14452,P59543,Q2HIZ4,Q496D7,Q50KF2,Q50KF3,Q50KF4 Hs.686384 GDB:11510242 MGC119118|MGC119119|MGC119120|MGC119121|MGC134637|T2R49|T2R56 protein-coding 1353421 TAS2R5 taste receptor, type 2, member 5 This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. 1580863 12139982,11696554,10774719,10766242,10766221,10737800,10761934,10761935,17108952,15744053,15496549,15489334,12853948,12690205,12581520,12477932 54429 NM_018980,AB199028,AB199029,AB199030,AC004979,AF227132,AY724966,CH236950,CH471070,CS008155,AW881072,BC069509,BC095522,BC101586,BC101588 NP_061853,BAD97933,BAD97934,BAD97935,AAS02040,AAF43905,AAU21159,EAL24015,EAW83984,CAI53529,AAH69509,AAH95522,AAI01587,AAI01589,Q502V5,Q50KW3,Q50KW4,Q9NYW4 Hs.675370 GDB:11504593 MGC126635|MGC126637|T2R5 protein-coding 1347594 TAS2R50 taste receptor, type 2, member 50 TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM] 1580863 17975119,17967605,16175505,15744053,15496549,15489334,12584440,12581520,12477932,12379855,12139982,11696554 259296 NM_176890,AB199231,AB199232,AB199233,AC018630,AF494235,AY114088,AY724937,CH471094,CS008125,CS008335,CS008337,BC112100 NP_795371,BAD98104,BAD98105,BAD98106,AAM19326,AAM63538,AAU21139,EAW96223,CAI53514,CAI53619,CAI53620,AAI12101,P59544,Q50KE2,Q50KE3,Q50KE4 Hs.688194 GDB:11510243 MGC138305|T2R50|T2R51|TAS2R51 protein-coding 1351386 TAS2R6 taste receptor, type 2, member 6 338397 AX097706 T2R06|T2R6 protein-coding 1347652 TAS2R60 taste receptor, type 2, member 60 1580863 12584440,15744053,15496549,15489334,12690205,12679530,12581520,12477932,12139982,11696554 338398 NM_177437,AB199253,AB199254,AB199255,AC092214,AY114094,AY724955,BK001100,CH236959,CS008343,BC100938,BC100939,BC100940,BC100941 NP_803186,BAD98119,BAD98120,BAD98121,AAM63544,AAU21151,DAA01207,EAL23790,CAI53623,AAI00939,AAI00940,AAI00941,P59551,Q50KC8 Hs.688222 MGC119154|MGC119155|T2R56|T2R60 protein-coding 1342939 TAS2R62P taste receptor, type 2, member 62 pseudogene 15496549,12679530,12584440 338399 NG_002653,AC092214,AY114096,AY724964,BK001058,CH236959 PS1|T2R62|TAS2R62 pseudo 1345577 TAS2R63P taste receptor, type 2, member 63 pseudogene 12679530,12584440,15496549 338413 NG_002675,AC018630,AY114097,AY724950,BK001063 PS6|T2R63 pseudo 1351930 TAS2R64P taste receptor, type 2, member 64 pseudogene 15496549,12679530,12584440 338412 NG_002674,AC018630,AY114098,AY724952,BK001059 PS2|T2R64|T2R64P pseudo 1348917 TAS2R65P taste receptor, type 2, member 65 pseudogene 15496549,12679530,12584440 338414 NG_002676,AC134349,AY114099,AY724948,BK001061 PS4|T2R65|TAS2R65 pseudo 1347137 TAS2R7 taste receptor, type 2, member 7 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50837 NM_023919,AB199038,AB199039,AC006518,AF227133,AY724936,CH471094,CS008169,BC069091,BC093992,BC113561,AB199037 NP_076408,BAD97941,BAD97942,BAD97943,AAF43906,AAU21138,EAW96208,CAI53536,AAH69091,AAH93992,AAI13562,Q50KV5,Q50KV7,Q9NYW3 Hs.533754 GDB:11504457 MGC142121|T2R7|TRB4 protein-coding 1344558 TAS2R8 taste receptor, type 2, member 8 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50836 NM_023918,AB199051,AB199052,AB199053,AC006518,AF227134,AY724935,CH471094,CS008179,BC069084,BC069551,BC096701,BC096735,BC098167,BC098353 NP_076407,BAD97955,BAD97956,BAD97957,AAF43907,AAU21137,EAW96209,CAI53541,AAH69084,AAH69551,AAH96701,AAH96735,AAH98167,AAH98353,Q4KN04,Q50KU1,Q50KU2,Q9NYW2 Hs.533755 GDB:11504459 T2R8|TRB5 protein-coding 1342904 TAS2R9 taste receptor, type 2, member 9 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. 634075,1580863 10761934,15744053,15496549,15489334,12581520,12477932,12139982,11696554,10774719,10766242,10761935 634075 50835 AB199063,AB199064,AB199065,AC006518,AF227135,AY724954,CH471094,CS008191,BC069066,BC095519,NM_023917 NP_076406,BAD97966,BAD97967,BAD97968,AAF43908,AAU21150,EAW96210,CAI53547,AAH69066,AAH95519,Q9NYW1 Hs.272391 GDB:11504461 T2R9|TRB6 protein-coding 1318453 TASP1 taspase, threonine aspartase, 1 This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 18395097,16537915,16216576,15489334,14702039,14636557,12482972,12477932,11780052 55617 NM_017714,AL121754,AL121782,AL158089,CH471133,CS001898,AK000219,AK025671,AL601028,BC025266,CA418131,CR598923,CR612407,CR749507 NP_060184,CAC01509,CAI22071,CAI21890,EAX10314,EAX10315,EAX10316,EAX10317,BAA91018,BAB15209,AAH25266,Q9H6P5 Hs.369932,Hs.640471 GDB:11504939 C20orf13|FLJ20212|MGC39159|dJ585I14.2 protein-coding 736963 TAT tyrosine aminotransferase This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. 1600125,1580863,1300048 1973834,16917729,16892178,16574453,15027097,12477932,12417987,9544843,7999802,7908801,6124417,4389443,2891604,2870018,1357662,1356171,12588988,12944466 1600125 6898 NM_000353,AC010547,CH471166,X52509,BC020707,BC022292,BC130534,X52520,X55675 NP_000344,EAW59230,EAW59231,CAA36749,AAH20707,AAI30535,CAA36750,CAA39210,P17735,Q8WW92 Hs.705386 GDB:120398 protein-coding 1313148 TATDN1 TatD DNase domain containing 1 737633 14702039,12477932 737633 83940 NM_032026,AC090198,CH471060,AF212250,AK094861,AY071865,BC007066,BC064964,CR614010 NP_114415,EAW92065,EAW92066,EAW92067,AAK14933,AAL61823,AAH64964,Q6P1N9 Hs.170568 CDA11 protein-coding 1349644 TATDN2 TatD DNase domain containing 2 1580863 15302935,12477932,9039502 9797 NM_014760,AC022384,CH471055,AK289794,BC090935,BC101770,BC101776,CR605569,CR620522,D86972 NP_055575,EAW64070,EAW64071,EAW64072,BAF82483,AAH90935,AAI01771,AAI01777,BAA13208,Q3MIL9,Q5BKU0,Q93075 Hs.475401 KIAA0218|MGC126819|MGC126825 protein-coding 1604534 TATDN3 TatD DNase domain containing 3 12477932 128387 NM_001042552,NM_001042553,AC104333,CH471100,AI990055,AL832248,BC048115,BC113638,BC117485,CB118191,CR619489,DB456872 NP_001036017,NP_001036018,EAW93377,EAW93378,AAH48115,AAI13639,AAI17486,Q17R31 Hs.530538 MGC142198 protein-coding 1348047 TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1 10920205,10435631,18434448,17635994,16381901,15489336,15489334,15342556,15231748,14697242,14530271,12853948,12690205,12477932,11893730,11389905,11230166,11076863,9847074 8887 AF268075,AK000098,AL136586,BC024600,BC050358,BP280714,CR457056,CR533556,CR602905,CR618618,CR622233,DB553566,U33821,NM_006024,NM_001079864,AC004549,AC005091,CH236948,CH471073,AA481381,AF090891 AAF24016,AAG03025,CAB66521,AAH50358,CAG33337,CAG38587,AAA75595,Q0JS04,Q86VP1,CAL38710,NP_006015,NP_001073333,AAC13359,AAD15412,EAL24213,EAW93901,EAW93902,EAW93903,EAW93904 Hs.34576 GDB:9957537 CALCOCO3|T6BP|TXBP151 protein-coding 1318972 TAX1BP3 Tax1 (human T-cell leukemia virus type I) binding protein 3 1580863 10940294,11163757,16855024,15492812,15489334,14702039,12874278,12477932,10673275,9482110,8619474,14679154 30851 NM_014604,AC027796,AC132942,AF168787,CH471108,AF028823,AF234997,AF277318,AK001327,BC023980,CR591740,CR595900,CR601638,CR602958,CR606404,CR606577,CR607043,CR609956,CR612777,CR615413,CR619400,U90913 NP_055419,AAF43104,EAW90491,EAW90492,EAW90493,AAB84248,AAG44368,AAK69111,AAH23980,O14907,Q59F38 Hs.12956 TIP-1 protein-coding 1351979 TAZ tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternative transcripts encoding additional isoforms have been described but the full-length nature of these transcripts is not known. 1578363,1580863 17043667,11118295,16873891,16857210,17927494,16381901,16020776,15793838,15499385,15489336,15304507,15098233,12930833,12477932,12032589,11896212,11238270,11118213,11076863,10484795,10407787,9382097,9382096,9332651,8630491,8281148,8042670,7616547,5455540 1578363 6901 DQ173599,DQ173600,DQ173601,DQ173602,DQ173603,DQ173604,DQ173605,DQ173606,DQ173607,DQ173608,DQ173609,DQ173610,DQ173611,DQ173612,DQ173613,NM_181312,NM_181311,NM_181313,BX936347,CH471172,DQ173574,DQ173592,DQ173593,DQ173594,DQ173595,DQ173596,DQ173597,DQ173598,NM_000116,DQ173614,DQ173615,DQ173616,DQ173617,DQ173618,DQ173619,DQ173620,DQ173621,DQ173622,DQ173623,DQ173624,DQ173625,DQ173626,DQ173627,DQ173628,DQ173629,DQ173630,DQ173631,DQ173632,DQ173633,DQ173634,DQ173635,DQ173636,DQ173637,DQ173638,DQ173639,DQ173640,DQ173641,DQ173642,X92763,AK130900,AK291848,AY231461,AY231462,AY231463,AY231464,AY258036,AY258037,AY258038,AY258039,BC005062,BC011515,BI822925,CR590626,CR596174,CR599136,CR600372,CR606274,CR616010,CR625386,CR625491,CR625532,DQ884408,X74607,X92762 ABC25765,ABC25770,ABC25775,ABC25780,ABC25785,ABC25790,ABC25795,ABC25800,ABC25805,ABC25810,ABC25815,ABC25820,ABC25825,ABC25830,ABC25835,ABC25760,NP_000107,NP_851829,NP_851828,NP_851830,CAI43206,CAI43207,CAI43208,CAI43209,CAI43210,CAI43211,EAW72717,EAW72718,EAW72719,EAW72720,EAW72721,EAW72722,EAW72723,EAW72724,EAW72725,EAW72726,EAW72727,EAW72728,EAW72729,EAW72730,ABB72780,ABC25731,ABC25736,ABC25741,ABC25746,ABC25751,ABC25756,Q2VF39,Q5HY43,Q5HY44,Q5HY45,Q5HY46,Q5HY48,Q7Z6N8,Q96F92,CAL37875,CAL38083,ABC25840,ABC25845,ABC25850,ABC25855,ABC25860,ABC25865,ABC25870,ABC25875,ABC25880,ABC25885,ABC25890,ABC25895,ABC25900,ABC25905,ABC25910,ABC25915,ABC25920,ABC25925,ABC25930,ABC25935,ABC25940,ABC25945,ABC25950,ABC25955,ABC25960,ABC25965,ABC25970,ABC25975,ABC25980,CAA63419,BAF84537,AAO84335,AAO84336,AAO84337,AAO84338,AAO84339,AAO84340,AAO84341,AAO84342,AAH05062,AAH11515,ABI63375,CAA63418,Q16635 Hs.409911 GDB:120609 BTHS|CMD3A|EFE|EFE2|FLJ27390|G4.5|LVNCX|Taz1|XAP-2 protein-coding 1349688 TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM] 18325908,17274760,16893906,16303743,15592455,15489334,15324660,15231748,14702039,12477932,12168954,10965142,10470851 23216 NM_015173,AC021106,AC098680,AC108933,AB029031,AK027355,AK057182,AK074954,BC014529,BC028196,BC029950,BC032337,BC050321,BC053648,BC126979,CR593051,CR609093,CR618032 NP_055988,BAA83060,BAB55057,BAC11312,AAH14529,AAH50321,AAH53648,AAI26980,Q6PJJ8,Q7Z6H2,Q86TI0,Q8NC59 Hs.176503 GDB:10796225 KIAA1108|TBC|TBC1 protein-coding 1605322 TBC1D10A TBC1 domain family, member 10A 11285285,17145964,16923811,15998911,15790807,15461802,14702039,12477932,10591208,9847074 83874 NM_031937,AC004997,CH471095,CQ783540,AF331038,AK074656,AK093231,AK127939,AK131086,BC022201,BC136815,BC142940,BC150187,BC150214,CR590088,CR590734,CR592975,CR594046,CR599097,CR602944,CR603728,CR610270,CR610602,CR611776,CR614592,CR619522,CR621862,CR626545,CT841514 NP_114143,AAC23432,AAC23433,AAC23434,EAW59871,EAW59872,EAW59873,EAW59874,EAW59875,EAW59876,EAW59877,CAF86715,AAK35048,BAC11117,BAC85136,AAI36816,AAI42941,AAI50188,AAI50215,CAJ86444,O76052,Q20WK7,Q6ZNK8,Q8WTX7,Q9BXI6,Q9UIE8,AAI43052,AAI43053,CAK54431,CAK54730 Hs.655273 EPI64|TBC1D10|dJ130H16.1|dJ130H16.2 protein-coding 1607066 TBC1D10B TBC1 domain family, member 10B 16368877,15302935,14702039,12477932,9110174,8619474 26000 NM_015527,AC106782,CH471192,AF370370,AI672923,AK002101,AK023192,AL117408,AY007150,BC028737,BC038994,BC050523,BC063112,BC072453,BC093814,BC093816,BC098419,BY795947,CR594390 NP_056342,EAW52256,EAW52257,EAW52258,AAQ15206,BAA92086,BAB14454,CAB55908,AAH50523,AAH63112,AAH72453,AAH93814,AAH93816,AAH98419,Q4KMP7,ABZ92318 Hs.699204 DKFZP434P1750|FP2461 protein-coding 1606878 TBC1D10C TBC1 domain family, member 10C Carabin is an endogenous inhibitor of calcineurin (see MIM 114105) that also inhibits the Ras (see MIM 190020) signaling pathway through its intrinsic Ras GTPase-activating protein activity (Pan et al., 2007 [PubMed 17230191]).[supplied by OMIM] 17230191,12477932 374403 BC022202,NM_198517,AP003419,CH471076,AK122585,BC035630,BC036873,BC047319,BC062999,CR610401 NP_940919,EAW74611,EAW74612,EAW74613,EAW74614,EAW74615,BAC56926,AAH36873,AAH62999,Q86YV2,Q8IV04 Hs.534648 CARABIN|FLJ00332|MGC46488 protein-coding 1343312 TBC1D12 TBC1 domain family, member 12 1580863 16344560,15164054,14702039,12477932,9628581 23232 NM_015188,AL138759,AL355341,CH471066,AB011180,AJ404330,AK090865,AL049956,BC064323,DA808973 NP_056003,CAH70583,EAW50040,BAA25534,CAB43225,O60347 Hs.500598 FLJ10339|FLJ12820|KIAA0608 protein-coding 1318412 TBC1D13 TBC1 domain family, member 13 737633 14702039,12477932 737633 54662 NM_018201,AL441992,CH471090,AB209565,AK001605,AK027457,AK123828,AK289777,BC014898,BC132817,BC150311 NP_060671,CAI15410,CAI15411,EAW87832,EAW87833,EAW87834,EAW87835,EAW87836,BAD92802,BAA91784,BAF82466,AAI32818,AAI50312,Q59F95,Q5T270,Q5T271,Q9NVG8,AAI40081,AAI43011 Hs.3376 FLJ10743|RP11-545E17.5 protein-coding 1320638 TBC1D14 TBC1 domain family, member 14 737633,1580863 18186464,16344560,15489334,14702039,12477932,10718198 737633 57533 NM_020773,NM_001113361,NM_001113363,AC092463,AC097382,AC106045,CH471131,AA724344,AB037743,AK056962,AL833868,BC024966,BC041167,BQ230652,DA317176,DA492919,DA754761 NP_065824,NP_001106832,NP_001106834,EAW82375,EAW82376,EAW82377,BAA92560,CAD38726,AAH41167,Q9P2M4 Hs.518611 FLJ32400|KIAA1322 protein-coding 1317393 TBC1D15 TBC1 domain family, member 15 737633,1580863 17081983,16964243,16055087,15592455,15489334,14702039,12477932,9373149,8125298 737633 64786 NM_022771,AC089984,AC090109,CH471054,AK022147,AK225221,AK225747,AK292306,AL157464,AL833639,BC028352 NP_073608,EAW97273,EAW97274,EAW97275,EAW97276,BAB13971,BAF84995,CAB75666,AAH28352,Q8TC07,Q9NSR4 Hs.284630 DKFZp686M1379|DKFZp761D0223|FLJ12085 protein-coding 1345819 TBC1D16 TBC1 domain family, member 16 737633,1580863 15489334,14702039,12477932 737633 125058 NM_019020,AC100791,AC116025,CH471099,AK000755,AK091923,AK097283,AL157485,AL512709,BC001525,BC028290,BC036947 NP_061893,EAW89574,EAW89575,EAW89576,EAW89577,BAA91361,AAH01525,AAH28290,AAH36947,Q8N3Z4,Q8TBP0,Q96DH7,Q9NWL9 Hs.369819 FLJ20748|MGC25062 protein-coding 1320164 TBC1D17 TBC1 domain family, member 17 737633,1580863 16189514,15489334,14702039,12477932,12031486 737633 79735 NM_024682,AC118341,AC118342,AF293463,CH471177,CQ871302,AK022230,AK090606,AK092924,AY129013,BC003516,CR596468,CR598900,CR606871,CR609726,CR613490,CR616225 NP_078958,AAK73364,EAW52572,CAH56832,BAB13991,AAM98756,AAH03516,Q6YL46,Q96RQ7,Q9HA65 Hs.631587 FLJ12168 protein-coding 1343247 TBC1D19 TBC1 domain family, member 19 1580863 8125298,15592455,15489334,14702039,12477932,9373149 55296 NM_018317,AC093807,AC107390,CH471069,AF075043,AI034462,AK001944,AK225395,AK289631,BC031642,DC299740 NP_060787,EAW92851,EAW92852,BAA91992,BAF82320,AAH31642,Q8N5T2 Hs.479403 FLJ11082 protein-coding 1315719 TBC1D2 TBC1 domain family, member 2 1580863 17081983,15302935,12477932,11785977 55357 NM_018421,AL137073,AL360081,AL591502,CH471105,AB209721,AF318370,AK026105,AK124772,AK131290,AL353935,AY026527,BC028918,BC071978 NP_060891,CAI13883,CAI13884,CAI13885,CAI13894,CAH71884,CAH71886,CAH71887,EAW58882,EAW58883,EAW58884,EAW58885,EAW58886,EAW58887,EAW58888,BAD92958,AAL55877,BAB15361,CAB89247,AAK07684,AAH28918,AAH71978,Q8WYT1,Q9BYX2,Q9H6A2,Q9NSH4,ABM82231,ABM85416,Q59EU0,Q5VWZ8,Q5VWZ9,Q5VX00,Q6IPC7,Q7L1K8 Hs.371016 GDB:11507998 DKFZp761D1823|FLJ10702|FLJ16244|FLJ42782|PARIS-1|PARIS1|TBC1D2A protein-coding 1346411 TBC1D20 TBC1 domain family, member 20 17901050,17686842,16344560,15489334,14702039,12477932,11780052 128637 AK055573,AK092063,AK095110,AK127062,AK291648,BC014648,BC014983,BC047616,BX647370,CR611379,CR622506,DA230581,DA311494,NM_144628,AL049761,AL121747,CH471133,AF116909 AAD29636,BAB70961,BAC86808,BAF84337,AAH14983,Q5JWQ8,Q6ZSY8,Q96BZ9,Q9Y2V8,NP_653229,CAI23015,EAX10670,EAX10671,EAX10672 Hs.590876 GDB:11505124 C20orf140|FLJ45119 protein-coding 1353455 TBC1D21 TBC1 domain family, member 21 1580863 15489334,12477932 161514 NM_153356,AC018943,AC108137,CH471082,BC033516 NP_699187,EAW77936,EAW77937,AAH33516,Q8IYX1 Hs.124512 MGC34741 protein-coding 1602007 TBC1D22A TBC1 domain family, member 22A 18186464,15489334,15461802,14702039,12529303,12477932,10591208 25771 AL023576,AL023733,AL078642,AL096755,AL118516,CH471138,U51561,Z79999,Z80896,Z82187,AK000851,AK055591,AK125705,AK127653,AL096779,BC001292,BC002743,NM_014346,BC020976,BC029897,CR456412,CR590373,CR590637,CR593690,CR593777,CR597368,CR607393,CR621287 NP_055161,CAI18761,CAQ11023,CAQ11024,CAQ11025,EAW73443,EAW73444,EAW73445,AAD12228,CAI23588,CAQ09530,CAQ09531,CAQ09532,BAC86253,CAB46628,AAH01292,AAH02743,AAH20976,AAH29897,CAG30298,Q8WUA7,CAK54403,CAK54702 Hs.435044 GDB:11504780 C22orf4|HSC79E021 protein-coding 1353872 TBC1D22B TBC1 domain family, member 22B 15998911,15790807,15489334,14702039,14574404,12477932 55633 BC109027,BX648317,CR749710,AK000344,AK096340,AK292893,AY313781,AY927466,AY927467,BC000291,BC000743,BC001927,BC002720,BC047658,BC063523,BC109026,NM_017772,AL096712,AL353579,AL589667,CH471081 AAI09028,CAH18482,Q68CV2,Q6P4C3,Q9NU19,EAX03942,BAA91099,BAF85582,AAQ72548,AAH00291,AAH00743,AAH01927,AAH02720,AAH63523,AAI09027,NP_060242,CAI22620,CAI20318,CAH71194,EAX03939,EAX03940,EAX03941 Hs.485270 C6orf197|DKFZp762J0110|FLJ20337|MGC125626|MGC125627|RP4-744I24.2|dJ744I24.2 protein-coding 1601860 TBC1D23 TBC1 domain family, member 23 14702039,12477932 55773 NM_018309,AC078783,AC093003,CH471052,AK001750,AK001908,AK092926,AL713684,AY740521,BC010221,BC020955,BX648032 NP_060779,EAW79826,EAW79827,BAA91881,BAA91973,CAD28488,AAW66944,AAH10221,AAH20955,Q9NUY8 Hs.477003 DKFZp667G062|FLJ11046|NS4ATP1 protein-coding 1606524 TBC1D24 TBC1 domain family, member 24 12477932,10574461 57465 NM_020705,AC093525,AC106820,AB032997,AK074509,BC112389,BC127014,BC127015,BX648283 NP_065756,BAA86485,AAI12390,AAI27015,AAI27016,Q9ULP9 Hs.353087 KIAA1171|MGC102885 protein-coding 1351229 TBC1D25 TBC1 domain family, member 25 This gene encodes a protein with a TBC domain and may function as a Rab GTPase activating protein. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. 16344560,12618308,12477932,8314581 4943 BC125089,BG328213,BI088539,CA447032,CR592577,DA087200,L08240,NM_002536,AC115618,AF196969,CH471224,BC026050,BC036942,BC041614,BC052609,BC064334,BC082255,BC101817,BC101819,BC125088 AAA59593,Q14830,Q3MII6,NP_002527,EAW50769,EAW50770,EAW50771,EAW50772,AAH26050,AAI01818,AAI01820,AAI25089 Hs.30619 GDB:119460 MG81|MGC126866|MGC126868|MGC149731|MGC149732|OATL1 ornithine aminotransferase-like 1 protein-coding 1604696 TBC1D26 TBC1 domain family, member 26 16344560,12477932,11347906 353149 NM_178571,AC005324,CH878279,AB058777,AI631546,BC028414,BC047400,DB067071,EG328144 NP_848666,EAW50388,EAW50389,EAW50390,AAH28414,AAH47400,Q86UD7 Hs.567880 MGC51025 protein-coding 2292086 TBC1D27 TBC1 domain family, member 27 14702039 96597 XR_040583,XR_040582,XR_040581,AC022596,AL353996,AK024458,BC128223 BAB15748,AAI28224,Q9H7M0 Hs.193857 protein-coding 2289741 TBC1D28 TBC1 domain family, member 28 16344560,14702039,12477932 254272 NM_001039397,AC026271,AC105100,AK097563,AK292544,BC112012,BC112016,DB065322,AL137747 NP_001034486,BAF85233,AAI12013,AAI12017,Q2M2D7 Hs.434123,Hs.567880 FLJ40244|MGC138217|MGC138221 protein-coding 1607053 TBC1D29 TBC1 domain family, member 29 12618308,12477932 26083 NM_015594,AC011840,CH471159,AL117394,BC096718,BC098126,BC098273 NP_056409,EAW51237,EAW51238,CAB55896,AAH96718,AAH98126,AAH98273,Q4QQI4,Q4V771,Q9UFV1 Hs.241421 DKFZP434O047 protein-coding 1604393 TBC1D2B TBC1 domain family, member 2B 12477932,10470851 23102 NM_015079,AC090260,AC104758,CH471136,AB028978,AI432924,AK000173,AK074871,AL080229,AL109773,AL137303,AW135485,BC015718,BC033712,BC152465,BE387538,CR590128 NP_055894,EAW99188,EAW99189,EAW99190,BAA83007,BAA90990,CAH10708,AAH33712,AAI52466,Q69YW7,Q9UPU7 Hs.567426 FLJ20166|KIAA1055 protein-coding 1345800 TBC1D3 TBC1 domain family, member 3 1580863 16863688,16381901,15489336,14702039,12612085,12604796,12477932,11230166,11076863,8471161,8406013 84218 AK095385,AK122833,AK289372,AL136860,BC078140,NM_032258,AC021317,X71377 CAB94197,BAF82061,CAB66794,AAH78140,Q0JSA5,Q6DCB4,CAL37674,CAL38609,AAI46681,NP_115634 Hs.105891,Hs.617010 TBC1D3A|TRE17 protein-coding 2291766 TBC1D30 TBC1 domain family, member 30 14702039,12618308,10231032 23329 XM_037557,XM_939476,XM_001716833,AC025262,AC078815,AB023201,AK055404,AL050074 XP_037557,XP_944569,XP_001716885,BAA76828,Q9Y2I9 Hs.192492 KIAA0984 protein-coding 1605183 TBC1D3B TBC1 domain family, member 3B This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are two copies of this gene located within a cluster of chemokine genes on chromosome 17q; this record represents the more centromeric copy. 16863688,12477932,12359748 414059 NM_001001417,NG_004113,AC003976,AA760944,AF540953,AK292257,BI828386,BI832051,BM563571 NP_001001417,AAN33117,BAF84946,Q8IZP1,AAI66651 Hs.617010,Hs.677656 FLJ78399|PRC17 protein-coding 1605182 TBC1D3C TBC1 domain family, member 3C This gene represents one of atleast 8 paralogs of TBC1D3 gene found on chromosome 17. These paralogs appear to be differentially expressed in human tissues. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. 16863688,12604796,12477932,8889549,12359748 414060 NM_001001418,XM_001714094,NG_004113,AC131056,AA045947,AK292308,BC033670,BC071680,BI827136,BX280919,BX346181 NP_001001418,XP_001714146,BAF84997,AAH71680,Q6IPX1,Q6PIJ2 Hs.454716,Hs.617010,Hs.661995 FLJ78248|MGC44903 protein-coding 1605746 TBC1D3D TBC1 domain family, member 3D 16863688 653047 AC021317 protein-coding 1604120 TBC1D3E TBC1 domain family, member 3E 16863688 729877 XM_001134201,XM_001134202,NM_001123392,AC027821 XP_001134201,XP_001134202,NP_001116864 Hs.631531 protein-coding 1604121 TBC1D3F TBC1 domain family, member 3F 16863688 729873 XM_001134185,XM_001134186,NM_001123391,AC027821 XP_001134185,XP_001134186,NP_001116863 Hs.105891 protein-coding 1605745 TBC1D3G TBC1 domain family, member 3G 16863688,12477932,9373149,8125298 654341 NM_001040282,AC126327,AK225985,AK292344,BC075809,DC397874 NP_001035372,BAF85033,AAH75809,Q6DHY5 Hs.617010 protein-coding 1604122 TBC1D3H TBC1 domain family, member 3H 16863688 727735 XM_001125979,XM_001125995,NM_001123390,AC021317,AC126327 XP_001125979,XP_001125995,NP_001116862 Hs.655470 protein-coding 1602782 TBC1D3I TBC1 domain family, member 3I 643947 XM_001713609,AC139367 XP_001713661,A6NDS4 protein-coding 1606373 TBC1D3P1 TBC1 domain family, member 3 pseudogene 1 400609 NG_005461,AC005702 pseudo 1604135 TBC1D3P2 TBC1 domain family, member 3 pseudogene 2 12477932 440452 NG_005460,AC053481,AC124802,BC058890 AAH58890,Q6PD72 Hs.448884 pseudo 1345136 TBC1D4 TBC1 domain family, member 4 1580863 15919790,17977950,17617058,17513702,17369524,17081983,17077344,16964243,16083285,15971998,15324660,15304337,15302935,15057823,12601173,12421765,11994271,11829485,9628581,17353931 9882 NM_014832,AL139230,AL162571,CH471093,AB011175,AY211910,BC151239,CR749622 NP_055647,CAH70991,CAI39591,CAI39592,EAW80536,EAW80537,EAW80538,BAA25529,AAI51240,CAH18416,O60343,Q68D14,AAI46301 Hs.210891 GDB:9958341 AS160|DKFZp779C0666 protein-coding 1321047 TBC1D5 TBC1 domain family, member 5 1580863 16713569,16189514,15489334,15144186,14702039,12477932,9039502 9779 NM_014744,AC090644,AC090960,AC104451,AC140076,AC144531,CH471055,AK097990,BC013145,D86965 NP_055559,EAW64284,EAW64285,EAW64286,EAW64287,EAW64288,AAH13145,BAA13201,Q92609 Hs.475629 GDB:9785204 KIAA0210 protein-coding 1316981 TBC1D7 TBC1 domain family, member 7 737633,1580863 17658474,15489334,14702039,12477932,11042152,9373149,8125298 737633 51256 NM_016495,AL008729,AL589984,CH471087,AF151073,AK057228,AK223445,AL833474,AY542308,AY826820,BC007054,BC050465,CR607687,CR614229,CR616365,CR626678 NP_057579,CAI21569,CAI21570,CAI21571,CAI21572,CAI21573,CAI21574,CAI21575,CAI21576,EAW55323,EAW55324,EAW55325,EAW55326,EAW55327,AAF36159,BAB71389,BAD97165,CAI46116,AAT08177,AAX18640,AAH07054,AAH50465,Q2TU37,Q53F44,Q5JPB9,Q5SZL3,Q5SZL4,Q5SZL5,Q5SZL6,Q5SZL7,Q5SZL8,Q5SZM1,Q5SZM2,Q86VM8,Q96MB8,Q9P0N9 Hs.484678 DKFZp686N2317|FLJ32666|PIG51|TBC7|dJ257A7.3 protein-coding 1347118 TBC1D8 TBC1 domain family, member 8 (with GRAM domain) 1580863 10373574,17686842,16344560,15851553,14702039,12023963,10737800 11138 NM_001102426,AC013722,AC016738,CH471127,AB017114,AK000748,AK098124,AK292826,AL134328,BE842460,BQ673509,CA429937,CD722231,DB079019,DB201187,DC383710,DC415735,DR001338 NP_001095896,AAY14824,EAX01823,EAX01824,EAX01825,BAA76517,BAF85515,O95759,Q53SQ4 Hs.442657 AD3|HBLP1|VRP protein-coding 1606538 TBC1D8B TBC1 domain family, member 8B (with GRAM domain) 14702039,12477932,9373149,8889548 54885 NM_017752,NM_198881,AL391315,AL591849,CH471120,AK000305,AK091248,AK123957,AK225310,BC017978,BC122564,BQ014086,BX648230,CA941751,CB243872 NP_060222,NP_942582,CAI39548,CAI39549,CAI40161,EAX02734,EAX02735,EAX02736,BAA91071,BAC03620,BAC85735,AAI22565,Q0IIM8,Q8N250 Hs.351798 FLJ20298|RP11-321G1.1 protein-coding 1604383 TBC1D9 TBC1 domain family, member 9 (with GRAM domain) 16355344,15302935,15146197,12970790,12477932,10737800,10048485,9110174,8619474 23158 AC108019,CH471056,AB020689,AF131785,AI439646,AK127020,BC038804,BC146758,BQ308276,CN332501,CN332502,NM_015130,AC096733 EAX05092,EAX05093,EAX05094,BAA74905,BAC86789,AAI46759,Q6ZT07,NP_055945 Hs.480819,Hs.694161 KIAA0882|MDR1 protein-coding 1604633 TBC1D9B TBC1 domain family, member 9B (with GRAM domain) 16303743,14702039,12477932,9734811,9373149 23061 NM_015043,NM_198868,AC008393,AC010285,CH471165,AB014576,AK001196,AK001473,AK026096,AK074791,AK123874,AK223509,BC000701,BC008919,BC031697,BC080659,BC110400,BC129994,BM459848,BU183640,BX641107,CR599645 NP_055858,NP_942568,EAW53777,EAW53778,EAW53779,EAW53780,EAW53781,EAW53782,BAA31651,BAD97229,AAH00701,AAH08919,AAH80659,AAI29995,CAE46050,Q66K14,Q9BW24 Hs.155829 FLJ41880|KIAA0676|MGC157757 protein-coding 1323048 TBCA tubulin folding cofactor A The product of this gene is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. This gene encodes chaperonin cofactor A. 1298632,1580863 8706133,16130169,15963512,15489334,12477932,12054808,11042152,9653160,8567715 1298632 6902 CH471084,AF038952,BC018210,BC067837,BC105285,BT007354,CR542170,CR542186,DB538817,DW436723,NM_004607,AC026717,AC035147 EAW95810,AAC39866,AAH18210,AAI05286,AAP36018,CAG46967,CAG46983,O75347,Q6FGD7,NP_004598 Hs.291212 GDB:9954850 protein-coding 1320593 TBCB tubulin folding cofactor B 1580863 15489334,15057824,12477932,9265649,8978780,8978778,16189514,16303566,16713569,18048340,15831477,15592455 1155 NM_001281,AD001527,AF013488,AI126083,AL555345,BC005969,BC052812,BT007424,CR541971,CR597420,CR602595,CR607995,CR613574,D49738 NP_001272,AAB51182,AAB67716,AAH05969,AAH52812,AAP36092,CAG46769,BAA08572,Q6FGY5,Q99426,ABM83826,ABM87149 Hs.31053 GDB:636527 CG22|CKAP1|CKAPI|MGC14625 protein-coding 1315555 TBCC tubulin folding cofactor C Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. 1580863 8706133,15489334,14574404,12477932,11847227,8567715 6903 NM_003192,AL353716,CH471081,BC017479,BC020170,BE795945,BT007002,CR590261,CR590736,CR591267,CR594940,CR602269,CR604530,CR609978,CR623339,U61234 NP_003183,CAI14818,EAX04100,AAH17479,AAH20170,AAP35648,AAB17539,Q15814,Q53Y43 Hs.75064 GDB:9954852 CFC protein-coding 1605661 TBCCD1 TBCC domain containing 1 14702039,12477932 55171 NM_018138,AC068631,CH471052,AK001422,AK124362,BC025748 EAW78192,EAW78193,NP_060608,EAW78191,BAA91682,AAH25748,Q9NVR7 Hs.518469 FLJ10560 protein-coding 1317676 TBCD tubulin folding cofactor D Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. 8706133,18171676,17704193,15489334,15231748,14702039,12912990,12477932,12107410,11110777,10831612,10722852,10231032,9265649,9110174,8619474,8567715,16189514 6904 AC024361,AC068014,AC068584,AC087222,AC130371,CH471099,AA421669,AB023205,AF052173,AF193042,AJ006417,AK057975,AK091959,AL096745,AL133562,BC003094,BC006364,BC012824,BC024167,BC039654,BC150142,BG254219,BI464569,CA390153,CR593345,CR607508,NM_005993 NP_005984,EAW89821,EAW89822,EAW89823,BAA76832,AAG22470,CAA07022,BAC03777,CAB62532,CAB63716,AAH03094,AAH06364,AAH12824,AAH39654,Q9BRC2,Q9BTW9,ABM82811,ABW03451 Hs.464391 GDB:9954855 KIAA0988 protein-coding 1313614 TBCE tubulin folding cofactor E Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. 1599303,1580863 8706133,18262179,17184771,17008776,16710414,16344560,15489334,14702039,12665801,12477932,12446740,12389029,12389028,9891010,9806825,9634513,9265649,8567715,16189514 1599303 6905 NM_003193,AL357556,AL672237,CH471098,AK093397,AK292287,BC008654,BT007086,CR599260,CR612606,DA418943,NM_001079515,DA981183,U61232 NP_001072983,NP_003184,EAW70021,EAW70022,EAW70023,EAW70024,EAW70025,BAF84976,AAH08654,AAP35749,AAB17538,Q15813 Hs.498143 GDB:9848740,GDB:9862254,GDB:9954857 HRD|KCS|KCS1|pac2 tubulin-specific chaperone e protein-coding 1606678 TBCEL tubulin folding cofactor E-like 18262179,15728251,14702039,12477932 219899 NM_152715,AP000646,AP001929,CH471065,AK024239,AY398644,BC020501,BC120988,BC120989,CR616944 NP_689928,EAW67513,EAW67514,EAW67515,AAR27875,AAI20989,AAI20990,Q0VAN5,Q0VAN6,Q5QJ74 Hs.632108 El|FLJ14177|LRRC35|MGC10233 protein-coding 1313752 TBK1 TANK-binding kinase 1 The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. For example, the protein can form a complex with the IKB protein TANK and TRAF2 and release the NFKB inhibition caused by TANK. 16887178,12761501,12692549,18307994,17823124,17568778,17526488,17327220,17018283,16973572,16888014,16537515,16394098,16380379,16281057,16223731,16155125,16153868,15841462,15695821,15619605,15489334,15489227,15485837,15367631,14743216,14702039,14560022,14530355,12702806,12568715,12477932,12133833,11839743,10990461,10783893,10581243,9721103,8601309,7706279,16189514 29110 NM_013254,AC135279,AC136977,CH471054,AF174536,AF191838,AK002192,AK291039,AW275367,BC009864,BC034950 NP_037386,EAW97133,AAF69106,AAF05989,BAA92129,BAF83728,AAH34950,Q9UHD2 Hs.505874,Hs.607889 GDB:10796636 FLJ11330|NAK|T2K protein-coding 731934 TBKBP1 TBK1 binding protein 1 TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM] 17568778,14743216,12477932,9872452 9755 NM_014726,AC015674,CH471109,AB018318,BC111418,BC152407,BC167150,CR620734 NP_055541,EAW94805,EAW94806,BAA34495,AAI11419,AAI52408,AAI67150,A7MCY6 Hs.94790 KIAA0775|ProSAPiP2 prosapip2 protein protein-coding 1346534 TBL1X transducin (beta)-like 1X-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. This gene is highly similar to the Y chromosome TBL1Y gene. 1580863 10330347,18193033,16258276,15601853,15489334,14980219,14527417,12628926,12477932,11931768,11389839,10944117,10809664,12502735,12150997 6907 AC002549,AC003036,AC073488,CH471074,AB209608,AK289409,AK290962,BC020374,BC029394,BC032708,BC052304,Y12781,NM_005647 NP_005638,EAW98771,EAW98772,BAD92845,BAF82098,BAF83651,AAH32708,AAH52304,CAA73319,O60907,Q59F53 Hs.699315 GDB:6240432 EBI|TBL1 protein-coding 1348910 TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. 1580863 18193033,17316888,16893456,15601853,15489334,14980219,14702039,12628926,12477932,11931768,11063877,14527417 79718 NM_024665,AC023235,AC078799,CH471052,AF086399,AF267864,AF268193,AF314544,AK022956,AK025746,AL598314,BC034712,BC048298,BC060320,BC113421,BX648080,BX648935,DB459301 NP_078941,EAW78437,EAW78438,AAG44733,AAG44736,AAK00301,BAB14331,AAH48298,AAH60320,AAI13422,Q9BZK7,Q9H2I4 Hs.709397 C21|DC42|FLJ12894|IRA1|TBLR1 protein-coding 1345065 TBL1Y transducin (beta)-like 1Y-linked The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. 1580863 14702039,14660691,12815422 90665 NM_033284,NM_134259,NM_134258,AC011297,AC012068,CH471163,AF332220,AF332221,AF332222,AK056903,BC130471,BC130473 NP_150600,NP_599021,NP_599020,EAW59126,EAW59127,EAW59128,AAK13472,AAK13473,AAK13474,BAB71306,AAI30472,AAI30474,Q96MI2,Q9BQ87 Hs.664560 GDB:11508487 TBL1 protein-coding 1354068 TBL2 transducin (beta)-like 2 This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. 18193044,16140988,12975309,12477932,11230166,10575226,9860302 26608 NM_012453,AF097485,CH471200,AF056183,AF097484,AK000536,AK026529,AK074619,AK130791,AL080162,AY358518,BC006308,BC012938,BC047354,BC114361,BQ025092,BX420755,CR621952 NP_036585,AAF06824,EAW69671,AAD28083,AAF06823,BAC11093,CAB45751,AAQ88882,AAH12938,Q29R70,Q8N2L6,Q96E41,Q9Y4P3,ABM82422,ABM85613 Hs.647044 GDB:10795855 DKFZP43N024|MGC134739|WBSCR13|WS-betaTRP protein-coding 1313000 TBL3 transducin (beta)-like 3 The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. 1580863 8307582,16189514,15635413,14702039,12477932,12429849,11790298 10607 NM_006453,AC005363,AC005606,CH471112,AB209173,AK095076,BC002361,BC007620,BC010231,BC014007,BC021563,BC035409,CR594622,U02609 NP_006444,EAW85585,EAW85586,EAW85587,EAW85588,EAW85589,BAD92410,AAH07620,AAH10231,AAH14007,AAH35409,AAA18945,Q12788,Q59GD6,Q8IVB7,Q96A78 Hs.513267 GDB:9958001 SAZD protein-coding 68980 TBP TATA box binding protein Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminal. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. Mutations that expand the number of CAG repeats encoding this polyglutamine tract, and thus increase the length of the polyglutamine string, are associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. 1580863 2363050,1465435,7680771,8006019,9045704,9748258,10391676,12040021,12217962,9405375,8946909,1939271,2449431,14580349,17934876,17877750,17846415,17681538,17499043,17474109,17149738,17074809,17033685,16858508,16847693,16713569,16687213,16532453,16522640,16469772,16389595,16271277,16055710,16054804,15848047,15723054,15719058,15574413,15545613,15521976,15509807,15503103,15365789,15328344,15280358,15193429,14985389,14978680,14963322,14763955,14756671,14755733,14612417,14585974,14574404,9649342,9632719,9603936,9584164,9488487,9482861,9388200,9372921,9292011,9267036,9153318,9121429,9054383,8835540,8794892,8764062,8764009,8757291,8754792,8700832,8680883,8643494,8633057,8628302,8577725,8552083,8524284,8434021,8413269,8230415,8224850,8207805,8202368,8121496,7959796,7959752,7958900,7935440,7933101,7923369,12972251,12941701,12917344,12853230,12805114,12791683,12767124,12697807,12665565,12621023,12538582,12535529,12531510,12477932,12392551,11968006,11960008,11959865,11944977,11939898,11893333,11809839,11696545,11595744,11564863,11564744,11461703,11448935,11438666,11313753,11149922,11118327,11113176,11094070,11080476,11029584,11005381,10921893,10816571,10648625,10619841,10567404,10484774,10454579,10410676,10409662,10373544,10359315,10215616,10197586,10196196,10066804,9880542,9874563,9843967,9814863,9812988,9765201,9722567,9710587,9677423,7848298,7835343,7801123,7775442,7729427,7724559,7706261,7685215,7667283,7624363,7608968,2374612,2194289,1870994,12775419,12089333,9159119,15226435,9171375,15893730,15710329,11160734,12379483,15641800,8621548,15207618,15225551 6908 NM_003194,AL031259,CH471051,BC109053,BC109054,BC110341,BT019657,CR456776,CR590323,CR612496,CR618783,L37705,M34960,M55654,X54993,Z22828 NP_003185,CAA20286,CAD92542,CAD92543,CAD92544,EAW47418,EAW47419,AAI09054,AAI09055,AAI10342,AAV38463,CAG33057,AAC03409,AAA36731,CAA38736,P20226,Q32MN6,Q32MN7,Q5U0C8,Q6IBM6,Q7Z6S4,Q7Z6S5,Q7Z6S6 Hs.590872 GDB:138768 GTF2D|GTF2D1|MGC117320|MGC126054|MGC126055|SCA17|TFIID protein-coding 1315592 TBPL1 TBP-like 1 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that serves the same function as TBP and substitutes for TBP at some promoters that are not recognized by TFIID. It is essential for spermiogenesis and believed to be important in expression of developmentally regulated genes. 10220372,15767669,15673318,15489334,15269281,14574404,12477932,11861477,10570139,10082669,9889269,17353931,16189514 9519 NM_004865,AL035699,CH471051,AB020881,AF130312,AF136570,AK292320,BC000381,BC017559,BI560657,CR593032,CR596561 NP_004856,CAB43704,CAD92515,CAD92516,CAD92517,CAD92518,EAW47995,EAW47996,EAW47997,EAW47998,BAA75218,AAD24800,AAD28785,BAF85009,AAH00381,AAH17559,P62380,Q7Z6T9,Q7Z6U0,Q7Z6U1,Q7Z6U2,ABZ92461 Hs.486507 GDB:9958859 MGC:8389|MGC:9620|STUD|TLF|TLP|TRF2 protein-coding 1342829 TBPL2 TATA box binding protein like 2 17704303,17570761,14634207,12477932 387332 NM_199047,AL356801,CH471061,AY457923,BC117159,BC117185,DQ448593 NP_950248,EAW80675,EAW80676,AAR24281,AAI17160,AAI17186,ABD93323,Q6SJ96 Hs.528278 TBP2|TRF3 protein-coding 1343708 TBR1 T-box, brain, 1 This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. A similar protein has been disrupted in mice and shown to be critical for early cortical development, and causes loss of projection neurons in the olfactory bulbs and olfactory cortex. The C-terminal region this similar protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. 1580863 7619531,15815621,15489334,12477932,11719470,10749215,15066269 10716 NM_006593,AC009487,CH471058,BC029289,BC104844,BC113418,BI820633,U49250 NP_006584,AAY15017,EAX11368,EAX11369,AAH29289,AAI04845,AAI13419,AAA92010,Q16650,Q56A81 Hs.708010 GDB:9899777 MGC141978|TES-56 protein-coding 1312969 TBRG1 transforming growth factor beta regulator 1 737633 17110379,16582619,16344560,16303743,15489334,14702039,12477932,9373149,8125298,7654366 737633 84897 DA292015,DQ144542,CR622460,NM_032811,NR_016021,AP001524,CH471065,AK027527,AK057749,AK074140,AK074594,AK222936,AL713631,AL831881,AY696294,BC018452,BC032312,BC041043,BC064392,BC073160,BC107428,BC109269,CR590604,CR608215,CR611163,CR616019,CR620045,CR620586 AAZ76016,Q05BL0,Q3YBR2,Q6GPH2,Q96LV8,NP_116200,EAW67589,EAW67590,BAB55177,BAB71559,BAB84966,BAC11080,BAD96656,CAD28450,CAH10595,AAU10523,AAH18452,AAH32312,AAH41043,AAH73160,AAI09270 Hs.436410 FLJ14621|FLJ25020|FLJ90113|MGC129890|NIAM|TB-5 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1320236 TBRG4 transforming growth factor beta regulator 4 17353931,9383053,11256614,16964243,15489334,14702039,12759187,12690205,12477932,10231032,9373149,8125298 9238 NM_030900,NM_004749,NM_199122,AC013416,CH236960,CH471128,AB023165,AF011792,AK001281,AK022575,AK092132,AK222943,AL833840,BC002732,BC014918,BC017235,BG703429,CR602383,CR618918,CR620307,CR625147 NP_112162,NP_004740,NP_954573,EAL23744,EAL23745,EAW61051,EAW61052,EAW61053,EAW61054,EAW61055,EAW61056,BAA76792,AAB69312,BAD96663,CAD38700,AAH02732,AAH14918,AAH17235,Q969Z0,ABM85092 Hs.231411 CPR2|FASTKD4|KIAA0948 protein-coding 1317100 TBX1 T-box 1 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1578373,1580863 9268629,11111039,14585638,15703190,17850965,17622328,17479646,17438107,17377518,17273972,16854283,16684884,16586352,15337468,12858556,12533514,11748311,11585671 1578373 6899 NM_005992,NM_080646,NM_080647,AC000091,CH471176,DQ650705,AF012130,AF012131,AF373867 NP_005983,NP_542377,NP_542378,EAX03024,EAX03025,EAX03026,ABG25916,AAB94018,AAB94019,AAK58955,O43435,Q152R5 Hs.173984 GDB:439247,GDB:6113040 CAFS|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCFS protein-coding 1342498 TBX10 T-box 10 1580863 9545502,16327884,16247549,12915323,12477932 347853 NM_005995,AF033579,AP003385,CH471076,AY229977,BC113485,BC113487 NP_005986,AAC23481,EAW74662,AAO73483,AAI13486,AAI13488,O75333 Hs.454480 GDB:9295060 TBX13|TBX7 protein-coding 1317666 TBX15 T-box 15 1580863 16710414,14702039,12477932,9693034 6913 NM_152380,AL139420,AL357045,CH471122,AK096396,AK127536,BC122553,BX537778,CA412451,CA436813 NP_689593,CAI43066,CAI43067,CAI43068,EAW56691,BAC04776,AAI22554,CAD97837,Q08E76,Q5JT54,Q5JT55,Q7Z679,Q8N8P2,Q96SF7 Hs.146196 GDB:9862799 TBX14 protein-coding 1350500 TBX18 T-box 18 1580863 9888994,17584735,14574404,12477932 9096 NM_001080508,AL035694,CH471051,AJ010278,BC040697,BC132715,BC157841 NP_001073977,CAD92511,EAW48639,CAB37937,AAH40697,AAI32716,AAI57842,O95935,Q8IW86 Hs.709897 GDB:9899773 protein-coding 1320875 TBX19 T-box 19 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. 1599334,1580863 9888994,17652218,16899054,16710414,16390921,15666849,15613420,15489334,15476446,14702039,12970370,12651892,12651888,12477932,11916612,11290323 1599334 9095 NM_005149,AL009051,CH471067,AJ010277,AK091862,AK129813,BC093664,BC093666 NP_005140,CAI22638,CAI22639,CAI22640,EAW90824,CAB37936,AAH93664,AAH93666,O60806,Q5TIH6,ABZ92200 Hs.645440 GDB:9899775 FLJ26302|FLJ34543|TBS19|TPIT|dJ747L4.1 protein-coding 1322243 TBX2 T-box 2 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. 1578402,1580863 11111039,10468588,11748239,18025091,17407139,16730707,15781639,15489334,14702039,14595187,12873224,12477932,12023302,12000749,9710594,9434949,8889548,8597636,8530034 1578402 6909 AC005746,CH471179,AB209378,AK001031,AL832900,BC052566,BC070054,BM985069,CR615365,CR620143,S81264,U28049,NM_005994 Q69YM3,NP_005985,EAW51424,EAW51425,EAW51426,BAD92615,CAH10619,AAH52566,AAB36216,AAA73861,Q13207,Q59FT1 Hs.705451 GDB:568496 FLJ10169 protein-coding 1319719 TBX20 T-box 20 1580863 12853948,12690205,12477932,10936053,9847074,17668378,15489334,14550786 57057 NM_001077653,NM_020417,AC005826,AC006379,AC009531,CH236951,CH471073,AJ237589,BC120945,BC120946,DQ986374 NP_001071121,NP_065150,AAD21787,EAL23971,EAW94048,CAB51916,AAI20946,AAI20947,ABJ15760,Q000T4,Q9UMR3 Hs.404167 GDB:10796888 ASD4 protein-coding 1317938 TBX21 T-box 21 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. 1580863 10761931,18212358,17949803,17705132,17667540,17541280,17378728,17325860,17237380,17117487,17082665,17075044,16750991,16498264,16487356,16434488,16273099,16210653,16179640,15927679,15860546,15806396,15712176,15684083,15632006,15604153,15489334,15248849,15241679,15131585,12960249,12938094,12477932,12128215,11087660,9373149,8125298,15737643 30009 NM_013351,AC015674,CH471109,AF093098,AF241243,AK223634,BC039739 NP_037483,EAW94804,AAF00055,AAF61243,BAD97354,AAH39739,Q53EK5,Q9UL17 Hs.272409 GDB:10796080 T-PET|T-bet|TBET|TBLYM protein-coding 1343120 TBX22 T-box 22 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 724722,1580863 11024289,17868388,17846996,16247549,15772651,15489334,14729838,14702039,12477932,12374769,11733204,11559848 724722 50945 NM_001109878,NM_001109879,NM_016954,AL031000,CH471104,AF251684,AK097514,AY035371,BC014194,DB456367 NP_001103348,NP_001103349,NP_058650,CAI43069,CAI43070,EAW98588,EAW98589,AAG23749,AAK63189,AAH14194,Q5JZ06,Q9Y458 Hs.374253 GDB:120598,GDB:10796448 CLPA|TBXX|dJ795G23.1 protein-coding 1349477 TBX23 T-box 23 57160 GDB:10796890 1345948 TBX3 T-box 3 (ulnar mammary syndrome) This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. 1601419,1580863 9207801,11689487,12032820,11748239,12116211,10468588,18245468,17273972,17234970,17081983,16955224,16556916,16049973,15489334,15289316,14702039,12668170,12477932,12005433,12000749,10330342,8988164 1601419 6926 NM_005996,NM_016569,AC026765,CH471054,AF002228,AF074999,AF140240,AF170708,AF216750,AK054604,AK075457,AY034105,BC025258,CR618062 NP_005987,NP_057653,EAW98069,EAW98070,EAW98071,EAW98072,EAW98073,EAW98074,AAC12947,AAF61816,AAD50989,AAF61207,BAC11632,AAH25258,O15119,Q8NBK5,ABM83784,ABM87105 Hs.129895 GDB:681969 TBX3-ISO|UMS|XHL protein-coding 1319185 TBX4 T-box 4 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. 1601422,1580863 10945475,15106123,15231748,10199965,8878690 1601422 9496 NM_018488,AC005901,CH471179,AF188703,BC136403,BC142620 NP_060958,EAW51428,AAF68854,AAI36404,AAI42621,P57082 Hs.143907 GDB:9899780 SPS protein-coding 1313887 TBX5 T-box 5 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. 1578431 12845333,11431700,12499378,16332960,11161571,16183809,8988164,8988165,15138308,12237100,14519429,17584735,17534187,17273972,16917909,15653675,15489334,15221798,15087119,12858531,12668595,12477932,11748310,11183182,10974675,10842287,10199965,10077612,8054982 1578431 6910 NM_080717,NM_000192,NM_181486,NM_080718,NG_007373,AC009260,AC069240,CH471054,AB051068,AF086146,AF221714,AK290611,BC011028,BC027942,U80987,U89353,Y09445 NP_542448,NP_000183,NP_852259,NP_542449,EAW98065,EAW98066,EAW98067,BAB55448,AAF34659,BAF83300,AAH27942,AAC51644,AAC04619,CAA70592,Q96TB0,Q99593,ABZ92187 Hs.381715 GDB:6175917 HOS protein-coding 1317068 TBX6 T-box 6 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx6. Knockout experiments in mice indicate that Tbx6 is important for specification of paraxial mesoderm structures. Transcript variants encoding different isoforms have been noted for this gene. 1578435,1578436,1580863 9888994,9933572,18466071,17584735,15489334,14702039,12477932 1578435,1578436 6911 NM_004608,NM_080758,AC012645,AC093512,AJ010279,CH471238,AJ007989,AK022330,BC026031 NP_004599,NP_542936,CAB37938,EAW79926,EAW79927,CAA07812,BAB14014,AAH26031,O95947,Q9HA44,ABZ92188 Hs.198301 GDB:9864455 DFNB67 protein-coding 1352487 TBXA1R thromboxane A1 receptor 6914 GDB:250823 735834 TBXA2R thromboxane A2 receptor 1578439,1578440,1578445,1578446,1578448,1331525,1580863,1601447,1601450 8119956,1825698,18172303,18088317,18073117,18063812,18031559,18005048,17924829,17644091,17499743,17496729,17249521,17229546,17192347,16953279,16837469,16413928,16212421,16156795,16126723,15898979,15845539,15805995,15519496,15489334,15471868,15354262,15242977,15233797,15134434,15057824,14976202,14963009,14602550,14583632,14580363,14530262,12796499,12781781,12551898,12477932,12213432,12193606,12180983,12000493,11922633,11877412,11848439,11504827,10402514,10395940,9152406,8613548,8433523,8290554,8288221,8246916,8227091,8034687,7965765,7929844,7896853,15086532,15782186 1578439,1578440,1578445,1578446,1578448,1331525,1601447,1601450 6915 NM_001060,NM_201636,AC005175,CH471139,D15056,DQ268653,AY429110,BC028027,BC074749,BC074750,BC121148,BC121149,BM990145,U11271,U27325 NP_001051,NP_963998,AAC24302,AAC24303,EAW69301,EAW69302,BAA03649,ABB72549,AAR07905,AAH28027,AAH74749,AAH74750,AAI21149,AAI21150,AAA58957,AAA68608,O75228,P21731,Q05C92,Q0VAA9,Q0VAB0,Q9UCY2 Hs.442530 GDB:127517 TXA2-R protein-coding 736923 TBXAS1 thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. The gene expresses two transcript variants. 1601439,1601456,1601470,1580863,1601450,1601455,1601457,1601459,1601461,1601472,634088,1601473,1300048 18264100,16357168,15870920,15489334,15067173,14718574,14565864,12853948,12721789,12477932,12432933,11956185,11782360,11465543,11418589,11297515,10391210,10391209,9890157,9847074,9678486,9373149,8964509,8900410,8366093,8325653,8198598,8125298,7986068,7925341,6101498,2195994,2043115,1930241,1730669,1714723,1562592 1601439,1601456,1601470,1601450,1601455,1601457,1601459,1601461,1601472,634088,1601473 6916 NM_030984,AC004914,AC004961,AC006021,AF233615,AF233616,AF233617,AF233618,AF233619,AF233620,AF233621,AF233622,AF233623,AF233624,NM_001061,AF233625,CH236950,D34625,L36085,AK223466,BC014117,BC041157,CR625096,M74055,M80646,M80647,S60133 NP_001052,NP_112246,AAD21788,AAP21887,AAF99269,AAF99270,AAF99271,AAF99272,AAF99273,AAF99274,AAF99275,AAF99276,AAF99277,AAF99278,AAF99279,BAA07011,AAC01761,BAD97186,AAH14117,AAH41157,AAA36742,AAA60617,AAA60618,P24557,Q16843,Q53F23,Q86UL7,Q96CN2,Q9UDV3 Hs.520757 GDB:128744 CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS protein-coding 1349748 TC2N tandem C2 domains, nuclear 737633,1580863 16381901,15489336,15489334,14702039,12477932,11526914,11230166,11076863 737633 123036 NM_152332,AL121839,CH471061,AK093876,AK126359,BC040503,BX647828 NP_689545,EAW81462,EAW81463,EAW81464,BAC04238,BAC86538,AAH40503,Q0JU74,Q0JV91,Q8N9U0,CAL37569,CAL37937 Hs.510262 C14orf47|C2CD1|FLJ36557|MTAC2D1|Tac2-N protein-coding 1601822 TCAM1 testicular cell adhesion molecule 1 homolog (mouse) Members of the immunoglobulin superfamily are found in hundreds of proteins of different functions. Immunoglobulin-like domains may be involved in protein-protein and protein-ligand interactions. This superfamily member is the human ortholog of a testis-specific cell adhesion molecule previously characterized in mouse and rat. The putative membrane protein contains immunoglobulin domains and may play an essential role in sperm formation. The gene is located downstream from the growth hormone locus on chromosome 17. The locus evolved by a series of duplications and portions of this gene have been duplicated during these events and can be observed as orphaned exons between the growth hormone genes. 11195349,9889334,2744760 146771 AC015651,NR_002947,AB026156 Hs.629177 TCAM1P pseudo 1348921 TCAP titin-cap (telethonin) Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. 1580863 10984498,11842093,9350988,9817758,17921333,17117180,16713569,16713295,16678796,16650785,16531234,16490376,16407954,16352453,15967462,15582318,15489334,15136035,15010812,14702039,12507422,12477932,12446666,12209887,11763198,11699871,10655062,9804419,9645487,9245996,16189514,15802564 8557 NM_003673,AC087491,AJ010063,AJ011098,CH471152,EF179184,AJ000491,AK096328,BC012628,BC013330,BF670957 ABM83738,ABM87057,NP_003664,CAA08987,CAA09479,EAW60586,EAW60587,ABN05287,CAA04129,AAH12628,AAH13330,O15273 Hs.514146 GDB:9955621 CMD1N|LGMD2G|T-cap|TELE|telethonin protein-coding 1320461 TCEA1 transcription elongation factor A (SII), 1 1708494,11313499,12676794,17081983,16736500,16648364,16630816,16344560,15635413,15489334,15351637,15302935,14702039,14506279,12943681,12914699,12878157,12761297,12477932,11591653,9765293,9765201,9305922,8812434,8798387,8566795,8206389,8112616,7626141,2471707,1559613,1378807 6917 NM_201437,NM_006756,AC100821,CH471068,AK026617,AK094425,AK290454,AU125645,AU280634,BC072460,BM477937,BT019995,BX538034,CR542221,CR604302,M81601,X57198,X62585 NP_958845,NP_006747,EAW86739,EAW86740,EAW86741,BAF83143,AAH72460,AAV38798,CAG47017,AAA61138,CAA40484,CAA44470,P23193 Hs.491745 GDB:344752 GTF2S|SII|TCEA|TF2S|TFIIS protein-coding 1351284 TCEA1P transcription elongation factor A (SII), 1 pseudogene 8112616 6918 NG_001200,AL445670,X75159 GDB:344755 GTF2SP pseudo 1344959 TCEA1P2 transcription elongation factor A (SII), 1 pseudogene 2 17525332,17287340,17081983,15489334,15302935,8112616,7626141,1708494,1378807 399511 NG_003186,AC097359,X73534 CAA51940 pseudo 1348268 TCEA1P3 transcription elongation factor A (SII), 1 pseudogene 3 399550 1351655 TCEA1P4 transcription elongation factor A (SII), 1 pseudogene 4 399553 731353 TCEA2 transcription elongation factor A (SII), 2 The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. 1580863 16169070,16189514,8566795,17374514,16214896,15507123,15489334,14702039,12943681,12761297,12477932,12034815,11780052,11709559,9765201,9441762,1559613 6919 NM_198723,NM_003195,AL355803,AL590548,CH471077,U86749,AJ844627,AK027824,AW474513,BC014211,BC018896,BC031877,BC050623,BC050624,BC056407,BC098585,BI668232,BI756937,CB961240,CR456940,CR592543,CR599028,CR606123,CR610250,CR614332,CR620029,D50495 NP_942016,NP_003186,CAD11900,CAD11901,CAI13198,CAI13199,CAI13200,EAW75168,EAW75169,EAW75170,AAC39553,CAH59746,AAH18896,AAH50623,CAG33221,BAA09089,Q15560,Q5JRI7,Q5JRI8,Q5ZEZ5,Q6IB64,Q86VL0,ABZ92433 Hs.505004 GDB:5365447 TFIIS protein-coding 1322790 TCEA3 transcription elongation factor A (SII), 3 1580863 15489334,12477932,9790746,1559613,9765201 6920 NM_003196,AL109936,AL357134,CH471134,AA873235,AJ223473,AK027024,AK290272,AY540752,BC019675,BC041613,BE880226,BQ949868 NP_003187,EAW95048,EAW95049,CAA11393,BAF82961,AAT44402,AAH41613,O75764,Q5DR83,Q5T4V8,ABZ92434 Hs.446354 GDB:9836578 TFIIS|TFIIS.H protein-coding 1352968 TCEAL1 transcription elongation factor A (SII)-like 1 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. The encoded protein is similar to transcription elongation factor A/transcription factor SII and contains a zinc finger-like motif as well as a sequence related to the transcription factor SII Pol II-binding region. It may exert its effects via protein-protein interactions with other transcriptional regulators rather than via direct binding of DNA. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. 1580863 7971997,16697770,16542834,16364249,16341674,16331344,16054204,15807891,15773840,15772651,15489334,12477932,11248419,10353443,10051408,8206389,7592688,17353931 9338 NM_001006640,NM_004780,NM_001006639,AF095906,AL049610,CH471190,BC000809,BM784458,BU602495,BX092470,CB053221,CF454849,CR602449,M99701 ABW03709,NP_001006641,NP_004771,NP_001006640,AAD17840,CAB55700,EAW54702,AAH00809,AAA60149,Q15170,ABM85299 Hs.95243 GDB:9865065 SIIR|p21|pp21 protein-coding 1342883 TCEAL2 transcription elongation factor A (SII)-like 2 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. 1580863 15772651,15489334,12477932,10051408,9776767,8889548 140597 NM_080390,AL035214,CH471115,AF325115,BC093932,BC104764,BM699243,CD580311,CR601113 NP_525129,CAI42278,EAX02900,AAL37355,AAH93932,AAI04765,Q9H3H9,ABZ92140 Hs.401835 MY0876G05|my048 protein-coding 1346044 TCEAL3 transcription elongation factor A (SII)-like 3 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. 737633,1580863 17081983,15772651,15489334,14702039,12477932,10051408 737633 85012 NM_001006933,NM_032926,CH471190,Z73965,AF163263,AK098494,BC007622,BC008703 NP_001006934,NP_116315,EAW54703,EAW54704,CAI42029,AAQ13592,BAC05318,AAH07622,AAH08703,Q969E4,ABZ92136 Hs.311776 MGC15737 protein-coding 1351026 TCEAL4 transcription elongation factor A (SII)-like 4 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing occurs for this gene; however, the full-length nature of all transcript variants has not yet been described. 737633 17081983,17076909,15772651,15489334,14702039,12905813,12477932,10051408,9373149,8125298 737633 79921 NM_001006935,NM_001006937,NM_001006936,CH471190,Z73965,AF271783,AF314542,AK024827,AK093021,AK225117,AL833640,AY885169,BC012296,BU536419,CD700101,NM_024863,CR594284 NP_079139,NP_001006936,NP_001006938,NP_001006937,EAW54705,EAW54706,CAI42031,AAG44794,AAL40909,BAB15023,AAX82039,AAH12296,Q96EI5 Hs.194329 DKFZp686M0279|FLJ21174|NPD017 protein-coding 1354272 TCEAL5 transcription elongation factor A (SII)-like 5 15772651,12477932 340543 NM_001012979,CH471190,Z68694,BC132922,BC132924,CR622925,CR596252 NP_001012997,EAW54717,CAI41976,AAI32923,AAI32925,Q5H9L2 Hs.403462 protein-coding 1606134 TCEAL6 transcription elongation factor A (SII)-like 6 15772651,15489334,12477932 158931 NM_001006938,CH471115,Z70719,BC071675,DN993514 NP_001006939,EAX02901,EAX02902,CAI42012,AAH71675,Q6IPX3 Hs.447815 Tceal3 protein-coding 1347340 TCEAL7 transcription elongation factor A (SII)-like 7 737633 15870691,15772651,15489334,14702039,12477932 737633 56849 NM_152278,CH471190,Z92846,AJ297363,AK094400,BC005988,BC016786,CR612143 NP_689491,EAW54714,CAI41965,CAB95948,AAH05988,AAH16786,Q9BRU2,Q9NQ44,ABZ92139,ABZ92152 Hs.21861 MGC23947|MPMGp800C04260Q003 protein-coding 1352350 TCEAL8 transcription elongation factor A (SII)-like 8 This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. 737633,1580863 15772651,15489334,12477932,10051408 737633 90843 NM_001006684,NM_153333,CH471190,Z68694,AK026349,AL833632,BC035573,BU932815,CR622012 NP_001006685,NP_699164,EAW54718,CAI41978,CAI41979,AAH35573,Q8IYN2,ABZ92134 Hs.389734 MGC45400 protein-coding 733902 TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. 1580863 7660129,14564014,15781449,12676794,16675548,16503656,16189514,15590664,15574592,15489334,15280393,14960280,12943681,12559969,12477932,12149480,12052866,12050673,12004076,12004003,11994304,10851083,11739384,11384984,11006129,10973499,10692460,10587522,10535940,10449727,10205047,10051596,9447969,9122164,8244996,7821821,7660130,7660122,16303161,15574593,17353931 6921 NM_005648,AC022868,CH471068,AK057889,AL832244,BC013809,BC093065,BC100028,BC100283,BX649138,CR592224,CR603697,L34587 NP_005639,EAW87015,EAW87016,EAW87017,EAW87018,EAW87019,EAW87020,EAW87021,AAH13809,AAH93065,AAI00029,AAI00284,AAA67650,Q15369,ABM85123,ABW03698 Hs.554594 GDB:454085 SIII elongation factor siii p15 subunit protein-coding 1352768 TCEB1P transcription elongation factor B (SIII), polypeptide 1 pseudogene 12853948,9847074,9031623,8912791,8646875,8530064 6922 NG_002399,AC008267,CH236961 ABZ92540 GDB:567347 EMC19|OCP2|TCEB1L pseudo 1343367 TCEB1P2 transcription elongation factor B (SIII), polypeptide 1 pseudogene 2 283747 NG_003219,AC016134 pseudo 1626552 TCEB1P3 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) pseudogene 3 644540 XM_927664,XM_001717201,XM_938718 XP_932757,XP_001717253,XP_943811 dJ254P11.1 protein-coding 734149 TCEB2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 17353931,7660129,14564014,15781449,12676794,17611602,16675548,16503656,16189514,15616553,15590664,15574592,15489334,14960280,12943681,12559969,12477932,12149480,12052866,12050673,12004076,11994304,11739384,11384984,11006129,10973499,10692460,10587522,10535940,10449727,10205047,10051596,9765201,9122164,8244996,7660130,7660122,7638163,16303161,15574593 6923 NM_207013,AC004493,AC092117,CH471112,AI191983,BC013306,BC065000,BF967495,BG329435,BM553320,BM921799,NM_007108,BU533433,L42856 NP_009039,NP_996896,AAC08452,EAW85472,EAW85473,EAW85474,EAW85475,EAW85476,AAH13306,AAH65000,AAA75522,Q15370,ABZ92541 Hs.172772 GDB:636396 SIII transcription elongation factor b (siii) polypeptide 2 (18kd, elongin b) protein-coding 736026 TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. 730113,1580863 7660129,12676794,17081983,16710414,16498413,16189514,15635413,15489334,15302935,15207703,12943681,12477932,12076535,11994304,11384984,10587522,9806752,9305922,8654961,8586449,11810028 730113 6924 BC020448,CR595017,L47345,NM_003198,AL031295,CH471134,AF116729,BC002883,BC019949 AAA75492,Q14241,ABM83952,ABM87269,NP_003189,CAB40157,EAW95070,EAW95071,AAO15305,AAH02883 Hs.584806,Hs.621226 GDB:636397 SIII|TCEB3A transcription elongation factor b (siii), polypeptide 3 protein-coding 1349544 TCEB3B transcription elongation factor B polypeptide 3B (elongin A2) This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. 730113,730012,1580863 10692460,16713569,16189514,15489334,12477932,8244996,7660129 730113,730012 51224 NM_016427,AC012254,CH471096,AB030834,BC036022,BC103911 NP_057511,EAW62900,BAA90665,AAH36022,AAI03912,Q3SY90,Q8IYF1 Hs.375035 ELOA2|HsT832|MGC119351|TCEB3L protein-coding 1346594 TCEB3C transcription elongation factor B polypeptide 3C (elongin A3) 1580863 12477932,11994304,11932239,8889548 162699 NM_145653,XM_001713655,AC012254,AB076840,BQ185879 NP_663628,XP_001713707,BAC01113,Q8NG57,ABZ92135 Hs.515381,Hs.631674 HsT829|TCEB3L2 protein-coding 1343292 TCEB3CL transcription elongation factor B polypeptide 3C-like 12477932 728929 NM_001100817,AC012254,AC090373,BC103912,BC103913 NP_001094287,AAI03913,AAI03914,Q3MI93,Q3SY89 Hs.631677 HsT828|MGC119353 protein-coding 1626264 TCEB3CL2 transcription elongation factor B polypeptide 3C-like 2 653420 XM_929328 XP_934421 protein-coding 1323365 TCERG1 transcription elongation regulator 1 This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. 1580863 9315662,15383276,18187414,17018562,16782886,16644732,16344560,15635413,15485897,15456888,15296517,14672652,12821179,12477932,12376575,12226669,11604498,11172033,11003711,10908677,10373521,9731529,14499622 10915 NM_006706,NM_001040006,AC011375,CH471062,AB209910,AF017789,AK074511,AK126455,AU125627,BC006109,BC014151,BC015864,BC035150,BC062351,BC111727,DA034307,DA737038 NP_006697,NP_001035095,EAW61840,EAW61841,EAW61842,BAD93147,AAB80727,AAI11728,O14776 Hs.443465 GDB:9958590 CA150|MGC133200|TAF2S protein-coding 1346689 TCERG1L transcription elongation regulator 1-like 14702039,12477932,8889548 256536 NM_174937,AC067746,AL390203,CH471066,AK096269,BC042951,BC101535,BM689725,BC093639 NP_777597,CAH74038,EAW49150,AAH42951,AAH93639,AAI01536,Q5VWI1 Hs.126575 MGC126584 protein-coding 731955 TCF12 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. 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. 12826747,12566462,12477932,11802795,11755530,11230166,11076863,10768861,9618760,9584154,9446597,9242638,7842744,1886779,1720355,1501295,1446075,8163514,1312219,11256614,16582099,16381901,16344560,15489336,15351717,15333839,14702039,14516699 6938 AF271611,AF271612,AF271613,AF271614,AF271615,AF271616,AF271617,AL442094,CH471082,U35052,AK022018,AK056961,AL831981,AU120213,BC050556,BC051769,BK001049,NM_207037,BU178185,BX537967,BX647333,CR597209,M65209,M80627,NM_003205,NM_207036,NM_207038,NM_207040,AC010999,AC016525,AC090511,AC090532,AF271609,AF271610,M83233 AAF82571,AAF82572,AAF82575,AAF82576,AAF82577,AAF82578,AAF82573,EAW77511,EAW77512,EAW77513,EAW77514,EAW77515,EAW77516,EAW77517,CAD89914,AAH50556,DAA01129,CAD97931,AAC37571,AAA58632,NP_996920,NP_003196,NP_996919,NP_996921,NP_996923,AAF82570,AAF82574,AAB62389,Q0JSB8,Q0JSR4,Q7Z3D9,Q86TC1,Q86VM2,Q99081,Q9NQY1,Q9NQY2,Q9NQY3,Q9NQY4,Q9NQY5,Q9NQY6,Q9NQY7,Q9NQY8,Q9NQY9,CAL38450,CAL38596,ABZ92191 Hs.511504 GDB:355444 HEB|HTF4|HsT17266 transcription factor 12 protein-coding 1318246 TCF15 transcription factor 15 (basic helix-loop-helix) The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. 1580863 8825648,8041747,12477932,11780052 6939 NM_004609,AL133231,CH471133,EF506886,AI218364,AW290965,BC067836,U08336 NP_004600,CAC00470,EAX10664,ABO43039,AAH67836,AAA19969,Q12870,Q6NVX3 Hs.437 GDB:387576 EC2|PARAXIS protein-coding 1345711 TCF19 transcription factor 19 (SC1) 1304482 1868030,16702430,16344560,15489334,15342556,14574404,12477932,10777095,8595903 1304482 6941 NM_007109,NM_001077511,AB029516,AB029517,AB029518,AB029519,AB088113,AB103619,AB202105,AL662833,AL662844,AL773544,BA000025,BX088580,CH471081,U25826,BC002493,BC033086,BC044632,BP365938,BT007247,BX647174,DA115077,DA116232,DA485961,DB260358,S53374 NP_009040,NP_001070979,BAA82324,BAA82325,BAA82326,BAA82327,BAC54945,BAF31280,BAE78629,CAI17406,CAI18329,CAI18484,BAB63312,CAI18707,EAX03363,EAX03364,EAX03365,AAB60363,AAH02493,AAH33086,AAH44632,AAP35911,AAB19475,Q9Y242,ABM86768,ABW03827 Hs.584807 GDB:624594 SC1|SC1-1 protein-coding 69146 TCF20 transcription factor 20 (AR1) The protein encoded by this gene binds a platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 (stromelysin 1) promoter. The protein localizes to the nucleus and displays DNA-binding and transactivation activities. It is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 10995766,17913746,17081983,15831449,15592455,15302935,12477932,10849425,10591208,9730594,9179496,8663478,7760812 6942 NM_181492,NM_005650,AL021878,AL031346,AY007595,BX247885,CH471095,AB006630,BC013180,U19345 NP_852469,NP_005641,CAB42440,AAG28930,CAI95721,EAW60495,EAW60496,EAW60497,EAW60498,BAA22961,AAC36392,Q5HYV8,Q5HYV9,Q9UGU0,AAI56503 Hs.475018 GDB:1220261 AR1|KIAA0292|SPBP protein-coding 1351692 TCF21 transcription factor 21 TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. 1580863 9507058,16415157,15489334,15231748,14702039,14574404,12493738,12477932,11591653,10572052,9733105,9545526,8889548,7553065 6943 CR594669,CR606057,CR616308,W73859,NM_003206,AL356109,CH471051,AF035718,AF047419,AK091844,BC025697,BT019660,CF128914,CR450293,NM_198392 CAG29289,O43680,Q6ICV0,ABW03673,ABW03324,NP_938206,NP_003197,CAC26822,EAW47999,EAW48000,EAW48001,AAC62514,AAC62532,AAH25697,AAV38466 Hs.78061 GDB:9863285 POD1 protein-coding 1606698 TCF23 transcription factor 23 14516699,11701948,10652346 150921 NM_175769,BK000143,CH471053 NP_786951,DAA00305,EAX00624,Q7RTU1 Hs.591583 GDB:11508000 OUT protein-coding 1602784 TCF24 transcription factor 24 14516699 641383 BK000144 DAA00306,Q7RTU0 protein-coding 1602223 TCF25 transcription factor 25 (basic helix-loop-helix) 16574069,18068114,16189514,15489334,14702039,12477932,12107429,10470851 22980 NM_014972,AC092143,AC092385,CH471184,AB028972,AF130092,AF322111,AK024679,AK095785,BC000959,BC009349,BC011884,CR589952,CR599110,CR614861,CR623529,DQ321703 NP_055787,EAW66677,EAW66678,EAW66679,BAA83001,AAG35518,AAG50276,BAB14959,AAH00959,AAH09349,AAH11884,ABC55265,Q9BQ70,Q9H384,Q9H7D3,ABZ92138 Hs.415342 FKSG26|Hulp1|KIAA1049|NULP1|PRO2620|hKIAA1049 protein-coding 1351290 TCF3 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) 1580863 15934135,10545951,9409784,10903890,2105528,10958665,2493990,12435739,17311319,17272506,17183364,16814783,16782810,16769578,16705184,16546275,16449526,16206189,16055439,16007194,10471746,10086727,9742120,9624159,9584154,9582372,9525934,9507011,9242638,9235903,9214632,9209374,9199284,9184158,9073453,9001211,8999959,8948587,8918463,8900141,8759016,8628307,8617811,8432525,8164688,8159721,8152805,8001125,7935390,7933101,7623842,7568177,2799390,2503252,2385294,2308859,2163343,2112746,1967983,1967982,1818757,1720355,1671560,1649701,1446075,1386162,1325437,12878195,15555546,15509787,15507449,15351717,15333839,15310760,15280352,15242870,15138269,15070701,15057824,15044608,14757642,14627819,14592976,14536079,12700034,12566462,12477932,12217327,12200424,12107263,11994467,11812799,11802795,11784080,11591653,11238923,11237058,10924525,10866689,10781029,10768861,10757985,10749989,10636926,10567574,10502414,10497239 6929 NM_003200,AC005321,AC006274,CH471139,AK024806,BC005166,BC011665,BC014680,BC110579,BC110580,M24404,M24405,M31222,M31523,M65214,X52078 NP_003191,AAC27373,AAC99797,EAW69467,EAW69468,EAW69469,EAW69470,EAW69471,EAW69472,AAH11665,AAI10580,AAI10581,AAA56829,AAA56830,AAA52331,AAA61146,AAC41693,CAA36297,P15923,Q2TB39,Q2TB40,Q6PJU3 Hs.371282 GDB:118881 E2A|ITF1|MGC129647|MGC129648 protein-coding 732921 TCF4 transcription factor 4 This gene encodes transcription factor 4, a basic helix-turn-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is expressed predominantly in pre-B-cells, although it is found in other tissues as well. Multiple alternatively spliced transcript variants that encode different proteins have been described. 1580863 10903890,11955446,16630820,2105528,1681116,18371301,18203713,17478476,17436255,17436254,16126178,15489334,15351717,15333839,14702039,12477932,11784080,11756408,11591653,11266605,10757985,9668116,9618760,9584154,9302263,9242638,8999959,8978694,8576241,2308860,16690926,12799378,15331612,12657632,11713476,11713475,11500377,16189514 6925 NM_001083962,NM_003199,AC013587,AC018994,AC090684,AC091103,CH471096,U75701,AB209741,AK021980,AK026674,AK095041,AK095066,AK096862,AK122765,BC031056,BC125084,BC125085,BJ989626,CR604143,CR612521,CR614823,CR624281,M74718,M74719,X52079 NP_003190,EAW63017,EAW63018,EAW63019,EAW63020,EAW63021,EAW63022,EAW63023,EAW63024,AAC51824,BAD92978,AAI25085,AAI25086,AAA60310,AAA60311,CAA36298,P15884,Q59ES0,Q8NEH3,NP_001077431 Hs.644653 GDB:125869 E2-2|ITF2|MGC149723|MGC149724|PTHS|SEF2|SEF2-1|SEF2-1A|SEF2-1B protein-coding 1352310 TCF6L3 transcription factor 6-like 3 (mitochondrial transcription factor 1-like) 6931 GDB:128182 1314197 TCF7 transcription factor 7 (T-cell specific, HMG-box) 1569101,9783587,16424171,15778344,14960582,14702039,12847244,12765974,12477932,12408869,11266540,10489374,9488439,8622675,7640309,7579399,1989880 6932 NM_201634,NM_201632,NM_201633,NM_213648,AC008608,AC011336,AF163776,CH471062,X63901,AK057580,NM_003202,AK093530,AK093683,AK131428,AL832816,AL834166,BC048769,BC072023,CR592040,X59869,X59870,X59871,Z47361,Z47362,Z47363,Z47364 NP_003193,NP_963965,NP_963963,NP_963964,NP_998813,AAF00616,EAW62277,EAW62278,EAW62279,EAW62280,CAB56795,BAD18575,AAH48769,AAH72023,CAA42526,CAA42527,CAA42528,CAA87439,CAA87440,CAA87441,CAA87442,P36402,Q6ZN00,Q86WR9,ABZ92190 Hs.573153 GDB:128037 MGC47735|TCF-1 protein-coding 1323251 TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box) 1578492,1580863 1741298,11085512,15815621,15489334,12477932,11266540,9916915 1578492 83439 NM_031283,AC011236,AC093162,CH471053,X62870,AB031046,BC058894 NP_112573,AAY15068,AAY24094,EAW99542,CAB91064,BAB18185,AAH58894,Q53T87,Q9HCS4 Hs.516297 GDB:9806338 TCF-3|TCF3 protein-coding 1317786 TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box) The TCL7L2 gene product is a high mobility group (HMG) box-containing transcription factor implicated in blood glucose homeostasis. The study of Yi et al. (2005) [PubMed 15525634] suggested that TCL7L2 acts through regulation of proglucagon (MIM 138030) through repression of the proglucagon gene in enteroendocrine cells via the Wnt signaling pathway.[supplied by OMIM] 1580863 9065401,15525634,9727977,18071026,15578569,12408868,10937998,18216022,18478343,18469204,18461161,18443202,18437354,18398040,18397358,18347071,18342627,18310307,18302196,18291022,18288125,18282631,18268068,18268006,18264689,18257044,18248681,18239663,18166673,18097733,18072015,18048388,17983804,17977958,17971425,17934151,17909099,17901222,17875931,17805508,17768662,17725629,17709525,17697858,17683561,17671651,17668382,17665514,17661009,17659738,17653210,17618413,17609304,17601994,17593304,17579832,18039847,17579206,17563454,17540954,17519421,17503332,17476472,17470138,17463248,17456004,17437080,17429603,17416797,17392368,17351281,17342473,17340123,17317761,17311858,17293876,17283121,17259383,17245589,17245407,17226113,17181866,17143297,17130514,17109766,17093941,17093940,17091236,17065361,17063324,17052462,17043802,17031610,17020404,17003360,17003358,16950124,16936218,16936217,16936216,16936215,16855264,16724116,16690926,16569639,16547505,16532032,16415884,16344560,16306047,16291872,16204248,16007074,15853773,15806138,15670774,15591320,15514942,15489334,15331612,15040893,12861022,12799378,12727872,12477932,12446687,12378619,12368361,12086873,11980438,11940574,11931652,11739494,11713476,11713475,11711551,11504726,11266540,10919662,10828605,10694436,10080941,9916915,9373149,8125298,1741298,15525529,15377999,15294866 6934 AB034691,AK074705,AK225809,BC032656,BX648364,CR536574,DA473655,Y11306,NM_030756,AJ270770,AL135792,AL158212,AL445486,AL451084,CH471066 EAW49511,EAW49512,EAW49513,EAW49514,EAW49515,EAW49516,EAW49517,BAA86225,AAH32656,CAG38811,CAA72166,Q5JRY4,Q5JRY5,Q5VVR8,Q6FHW4,Q9NQB0,EAW49510,NP_110383,CAB97212,CAB97213,CAB97214,CAB97215,CAB97216,CAB97217,CAB97218,CAB97219,CAH71770,CAI16037,CAI16038,CAI16039,CAH70497,CAH70498,CAH70499,CAH70500,CAI40404,CAI40405,CAI40406,CAI40408,CAI40410,EAW49506,EAW49507,EAW49508,EAW49509 Hs.593995 GDB:9806339 TCF-4|TCF4 protein-coding 1348705 TCFL5 transcription factor-like 5 (basic helix-loop-helix) 1580863 9763657,12923186,12477932,11780052,11306602 10732 NM_006602,AL035669,CH471077,AB012124,AF070992,AJ271337,BC046933,BC065520,CR621094 NP_006593,CAC12752,EAW75329,EAW75330,EAW75331,BAA36557,AAD53986,CAC24700,AAH46933,Q86TP4,Q9UL49 Hs.708155 GDB:9958230 CHA|E2BP-1|Figlb|MGC46135 protein-coding 1320079 TCHH trichohyalin 1580863 7685034,7686953,17081983,12477932,8423399,1431214,17353931 7062 NM_007113,AL589986,L09190,S63672,AY827491,BC131826,BC131827 NP_009044,CAH70024,AAA65582,AAB27489,AAX12418,AAI31827,AAI31828,Q07283,Q16043,Q5D861,Q5VUI3 Hs.432416,Hs.553300 GDB:136223 MGC157889|MGC157890|THH|THL protein-coding 1605587 TCHHL1 trichohyalin-like 1 126637 NM_001008536,AL591893,CH471121,AY456639,BC137493 NP_001008536,CAH72897,EAW53391,AAS13485,AAI37494,Q5QJ38,Q5VTJ9 Hs.546477 S100A17|THHL1|basalin protein-coding 1604269 TCHP trichoplein, keratin filament binding 15731013,16189514,15731018,15731017,15731016,15731015,15731014,14702039,12477932 84260 NM_032300,AC084876,CH471054,AK000079,AK092736,AY007230,AY210413,BC004285,BC022838,BX648596 NP_115676,EAW97883,EAW97884,BAC03960,AAG12971,AAH04285,Q9BT92,ABW03857,ABW03552 Hs.410924 MGC10854 protein-coding 1603702 TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. 8579597,9806637,10329006,17082597,15809087,15300850,14597263,14584882,14580332,14523594,12788495,12566520,12552563,12477932,12161516,12054167,11836511,11532986,10942435,10888887,10440860,10340843,10224039,10221984,9442887,9210392 10312 BC032465,CR594613,CR599870,CR602058,U45285,BC018133,NM_006019,NM_006053,NG_007878,AF033033,AP002807,CH471076,AF025374,AW083897,AY548967,AY548968,AY548969,AY548970,AY708388,AY708389,AY708390,AY708391 AAH18133,AAH32465,AAA97878,Q13488,Q64F87,Q6QBN6,Q6QBN7,Q6QBN8,Q8WVC5,ABW03394,NP_006010,NP_006044,AAD31081,EAW74689,EAW74690,EAW74691,EAW74692,AAC35742,AAS59834,AAS59835,AAS59836,AAS59837,AAU20795 Hs.495985 GDB:9956269 ATP6N1C|ATP6V0A3|Atp6i|OC-116kDa|OC116|OPTB1|Stv1|TIRC7|Vph1|a3 protein-coding 1318064 TCL1A T-cell leukemia/lymphoma 1A 1580863 11707444,7809072,17890451,17846228,17659340,17625607,17592280,17360849,17178851,17151114,16189514,16002684,15489334,15459205,15325703,12672960,12576313,12477932,12421830,12381789,12127395,12009899,11607815,10983986,10077617,9738977,9519406,7987816,2783489 8115 NM_021966,NM_001098725,AL139020,CH471061,X82241,BC003574,BC005831,BC009502,BC009891,BC014024,BG718395,CR456796,CR597499,CR602539,CR607470,CR614970,X82240 NP_068801,NP_001092195,EAW81622,EAW81623,AAH03574,AAH05831,AAH14024,CAG33077,CAA57708,P56279,ABM83426,ABM86639 Hs.2484 GDB:250785 TCL1 protein-coding 1346019 TCL1B T-cell leukemia/lymphoma 1B 1580863 10983986,14702039,12477932,11707444,11607815,10851082,10344735,10077617 9623 NM_199206,NM_004918,AB025274,AF110465,AL133467,CH471061,AB018563,AF110466,AF137027,AK023714,BC041616,BC051000,CR457087 NP_954676,NP_004909,BAA82476,AAD16996,EAW81619,EAW81620,BAA76712,AAD16997,AAD30130,AAH41616,AAH51000,CAG33368,O95988,Q6IAR7,Q9NPF3,Q9UBQ4 Hs.510368,Hs.632346 GDB:9957816 TML1 protein-coding 1349828 TCL4 T-cell leukemia/lymphoma 4 3194416,2189107 6946 GDB:136378 1344014 TCL6 T-cell leukemia/lymphoma 6 The function of this protein has not yet been defined; however, this protein may play a role which is similar to or complementary to other T-cell leukemia/lymphoma proteins during early embrogenesis. The association of this gene with T-cell leukemia chromosome translocations implicates this gene as a candidate for leukemogenesis. Complex alternative splicing of this gene results in multiple transcript variants, six of which have been fully described. Among these described variants, four different open reading frames have been identified; three of the six variants code for an identical product. 17548807,15489334,12477932,11710897,10851082,10588720 27004 AB035333,AB035334,AB035335,AB035337,AB035338,AB035339,AF195820,AF195821,BC041075,BX161462,CR600897,NM_020553,NM_020554,NM_014418,NM_020550,NM_020552,NM_012468,AB035346,AL133467,CH471061,AB035332 BAA96371,BAA96372,BAA96373,BAA96374,BAA96375,BAA96376,AAF07203,AAF07204,AAH41075,CAD61923,P56846,P56847,Q7LG61,Q86TV1,Q9NPH1,Q9P2S0,Q9P2S1,NP_065579,NP_055233,NP_065575,NP_065577,NP_065578,NP_036600,EAW81609,EAW81610,EAW81611,EAW81612,EAW81613,EAW81614,EAW81615,EAW81616,EAW81617,EAW81618 Hs.510368 GDB:11504385 TCL6e1|TCL6f1|TCL6f2|TNG1|TNG2 protein-coding 1349641 TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils and facilitates the transport of cobalamin into cells. 1580863 2777761,17891500,17487979,16740002,16470748,16341674,16335952,16268464,15941899,15834031,15489334,15342556,15201366,15073531,14739547,14656021,12923155,12590948,12477932,12194912,11788601,11717507,11373332,1463480,1176444 6947 NM_001062,AP002347,CH471076,M74722,AK292990,BC018632,BM769693,BM818792,BP370727,J05068 NP_001053,EAW73861,BAF85679,AAA61058,P20061,AAI56608,ABM83733,ABM87053 Hs.2012 GDB:118882 TC1|TCI protein-coding 1347590 TCN2 transcobalamin II; macrocytic anemia This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. 1580449,1580450,1580451,1580863 17436311,17366004,17220211,17119065,17035141,16917939,16894458,16820193,16470748,15937947,15782407,15489334,15461802,15086930,14725943,14718574,14632784,12911562,12660150,12477932,12456598,12413492,12091374,17449906,12064907,3782074,1708393,18447718,18435414,18427977,18386810,18226574,18023275,11159542,10591208,9847074,9373149,8443384,8439564,8125298,7913804,7849710,7742531,7713919,7695633 1580449,1580450,1580451 6948 AAB25526 NM_000355,NG_007263,AC005006,AF047576,AF076647,CH471095,AK225445,BC001176,BC011239,CR456591,CR590469,CR604069,CR607717,L02647,L02648,M60396 NP_000346,AAC05491,AAG24506,EAW59907,EAW59908,EAW59909,EAW59910,AAH01176,AAH11239,CAG30477,AAA61056,AAA61057,AAA61054,AAB25526,P20062,Q96FD4,CAK54622,CAK54921,ABM83737,ABM87056 Hs.417948 GDB:119608 D22S676|D22S750|TC2 protein-coding 1320415 TCOF1 Treacher Collins-Franceschetti syndrome 1 This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date. 1599379,1580863 17353931,9096354,15249688,17786119,17081983,16964243,16801042,16102917,15832313,15489334,15340364,15302935,15039977,15019983,14702039,12477932,12210332,12114482,11734546,11013442,10982400,10545604,9811939,9736782,9373149,9299440,9074926,9042910,8889548,8563749,8488840,8125298,1765376,1303194,16189514,15604408,12171929 1599379 6949 NM_001008656,NM_000356,NM_001008657,AC011372,CH471062,U79659,U79660,U84664,AB209317,AI419459,AI939467,AK096467,AK225284,AL133039,AY460334,BC008331,BC011764,BC014559,BC016144,BC027252,BC033093,BM664489,BX537490,U40847,U76366 NP_001008656,NP_000347,NP_001008657,EAW61732,EAW61733,EAW61734,EAW61735,EAW61736,EAW61737,EAW61738,EAW61739,AAB40722,AAC51185,BAD92554,CAB61367,AAR87774,AAH11764,AAH14559,AAH16144,AAH27252,AAH33093,AAC50903,AAC51181,Q13428,Q59FZ2,Q9UFD4 Hs.519672,Hs.605019 GDB:127390 MFD1|treacle protein-coding 732136 TCP1 t-complex 1 This gene encodes a molecular chaperone that is member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. 1580863 1630491,11532003,17939680,17081983,16916647,16465465,16341674,15923617,15745879,15489334,15251459,14574404,14532270,12887895,12665801,12477932,12215766,12060742,11933046,11771755,11018062,10978337,10791973,10524223,10353914,9885248,9337846,9250675,9189717,8982604,8889548,8812443,8733136,8718679,8633246,8098536,7953530,7916460,7908441,7904580,7615668,3653076,3476253,2377466,1901944,1630492,1602151,1572657,12502735,14499622 6950 NM_001008897,NM_030752,AL135914,CH471051,M26885,M27271,M27272,AA810047,BC000665,BM697304,BM827784,BT006969,CR590270,CR596767,CR603769,CR606609,CR608240,CR609567,CR613792,CR615945,CR617240,CR619708,CR622372,CR624087,X52882 NP_001008897,NP_110379,CAI21851,EAW47616,EAW47617,EAW47618,AAA61059,AAA61060,AAH00665,AAP35615,CAA37064,P17987,ABM92217,ABM84697 Hs.363137 GDB:119609 CCT-alpha|CCT1|CCTa|D6S230E|TCP-1-alpha t-complex protein 1 protein-coding 1316655 TCP10 t-complex 10 homolog (mouse) 1580863 8111376,14574404,12477932 6953 NM_004610,AL021331,AL592444,CH471051,AA994391,BC063451,BC065839,BC068592,DB446953,U03399 NP_004601,CAI42705,CAI39675,EAW47495,AAH63451,AAH68592,AAA82109,Q12799,Q6NUI5,Q6P4F4 Hs.351 GDB:120401 MGC34049|TCP10A protein-coding 1343659 TCP10L t-complex 10 (mouse)-like 15910542,15489334,15469726,14702039,14586771,12477932,10830953,9373149,8125298,16189514 140290 NM_144659,AP000274,AP000275,CH471079,AF115967,AK058078,AK223529,BC022024,BC033855,BX111775 NP_653260,EAX09869,AAM18531,BAB71653,BAD97249,AAH33855,Q0P6C2,Q8TDR4 Hs.42034 GDB:10796450 PRED77|TCP10A-2 protein-coding 1343977 TCP10L2 t-complex 10-like 2 (mouse) 202551 XM_011448 1351114 TCP11 t-complex 11 homolog (mouse) 14702039,12905703,12545228,12477932,11756566,9322250,1893875,1427894 6954 NM_001093728,NM_018679,AL138721,CH471081,AF260330,AF269223,AF536532,AF536533,AK057234,AK098590,AY069943,BC033729,BC040003,BC048418,BC090050 NP_001087197,NP_061149,CAI12438,CAI12439,CAI12440,CAI12441,CAI12442,CAI12443,EAX03808,EAX03809,AAF91370,AAF75551,AAN04044,AAN04045,AAL58042,AAH33729,AAH40003,AAH48418,AAH90050,Q5TB88,Q5TB93,Q5TB94,Q8WWU5 Hs.435371 GDB:136017 D6S230E|KIAA0229|MGC111103 protein-coding 1602322 TCP11L1 t-complex 11 (mouse)-like 1 14702039,12477932 55346 NM_018393,AC131263,AL121926,CH471064,AK002198,AK021448,AK090646,BC030582,BC041696 NP_060863,CAC48254,EAW68205,EAW68206,EAW68207,EAW68208,EAW68209,EAW68210,BAA92131,BAB13827,AAH41696,Q9HAL7 Hs.655341 FLJ11336|FLJ11386|dJ85M6.3 protein-coding 1605554 TCP11L2 t-complex 11 (mouse)-like 2 12477932 255394 NM_152772,AC079174,AC080012,CH471054,AF306671,AF306858,BC017872,BC033617,CR607890 NP_689985,EAW97774,EAW97775,EAW97776,EAW97777,EAW97778,EAW97779,AAH33617,Q8N4U5,ABM82241,ABM85425 Hs.696047 MGC40368 protein-coding 1348249 TCP1L1 t-complex 1-like 1 12690205,9847074 647047 NG_006549,AC010132,AC027269,CH236951 EAL24003 GDB:120402 pseudo 1351377 TCP1L2 t-complex 1-like 2 6952 NG_003036,AC008817 GDB:120403 pseudo 1354018 TCP1L3 t-complex 1-like 3 353508 1342729 TCTA T-cell leukemia translocation altered gene 15489334,15231748,12477932,11181995,8889549,7728759,16189514 6988 NM_022171,AC104452,CH471055,AA181568,AK000824,BC005157,CB054963,CR457411,CR601095,CR604395,CR608503,CR613604,CR620159,CR624816,EL954558,L41143 NP_071503,AAH05157,CAG33692,AAA97514,P57738 Hs.517962 GDB:591118 protein-coding 1344543 TCTE1 t-complex-associated-testis-expressed 1 8646886,2568335,1916824 6989 M55403 GDB:125868 D6S46 protein-coding 1604203 TCTE1 t-complex-associated-testis-expressed 1 12477932,8646886,2568335,1916824 202500 NM_182539,AL353588,CH471081,BC035022 NP_872345,CAI40745,CAI40746,EAX04266,AAH35022,Q5JU00,ABM82437,ABM85628 Hs.189183 GDB:125868 D6S46|MGC33600 protein-coding 1603169 TCTE1P t-complex-associated-testis-expressed 1 pseudogene 170554 NG_001059,AL031664 GDB:11508002 dJ531H16.2 pseudo 1322136 TCTE3 t-complex-associated-testis-expressed 3 12584439,12477932,1505969 6991 NM_174910,AL354892,CH471051,AF519569,BC113639 NP_777570,CAI19973,EAW47439,AAN34631,AAI13640,Q8IZS6 Hs.584808 GDB:128820 MGC142199|TCTEX1D3 protein-coding 1603544 TCTEX1D1 Tctex1 domain containing 1 14702039,12477932 200132 AK098192,BC106885,NM_152665,AL354978,CH471059 EAX06519,EAX06520,BAC05257,AAI06886,Q8N7M0,NP_689878,CAH71841,EAX06517,EAX06518 Hs.479226 FLJ40873|MGC125768|RP11-266I14.2 protein-coding 1604497 TCTEX1D2 Tctex1 domain containing 2 12477932 255758 NM_152773,AC069257,BC021177 NP_689986,AAH21177,Q05DG1,Q8WW35 Hs.135997 MGC33212 protein-coding 1606104 TCTEX1D4 Tctex1 domain containing 4 16982625,12477932 343521 NM_001013632,AL592166,BC092499,DQ132441 NP_001013654,CAI13007,AAH92499,ABA06522,Q5JR98 Hs.585137 protein-coding 1606246 TCTN1 tectonic family member 1 This gene encodes a member of the tectonic family of secreted and transmembrane proteins. The orthologous gene in mouse is required for formation of most ventral cell types. It functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. 16357211,15489334,14702039,12975309,12477932 79600 NM_024549,NM_001082538,NM_001082537,AC002350,AC144522,CH471054,AK024780,AK055891,AK092775,AK128417,AY358184,BC030993,BC033811,BC040113,BC044885,BC062611,CA419765,CR600997,CR608794,CR616304,CR614841,CR623429,CR624567,CR624799,DN997186,DQ278868 NP_078825,NP_001076007,NP_001076006,EAW97929,EAW97930,EAW97931,EAW97932,BAB15000,BAB71036,BAC03973,BAC87431,AAQ88551,AAH30993,AAH33811,AAH40113,AAH44885,AAH62611,ABB90560,Q05BR9,Q2MV58,Q6ZR83 Hs.211511,Hs.694390 FLJ21127|TECT1 protein-coding 1605624 TCTN2 tectonic family member 2 16357211,15489334,14702039,12477932 79867 NM_024809,AC117503,CH471054,AK023037,AK056924,AK292153,BC009112,DQ278870 NP_079085,EAW98430,BAB14370,BAF84842,AAH09112,ABB90562,Q96GX1 Hs.167165 C12orf38|FLJ12975|TECT2 protein-coding 1313033 TCTN3 tectonic family member 3 16357211,15489334,15164054,14702039,12975309,12477932,8889548 26123 NM_015631,AL356632,CH471066,AK075357,AK098295,AK128834,AL050022,AY359022,BC009494,BC061582,BC068449,BI561516,BQ005427,BU188435,BU742551,CR613495,CR615067,DQ278872 NP_056446,CAI16768,EAW49993,BAC11567,BAC05278,BAC87634,CAB43242,AAQ89381,AAH09494,AAH61582,AAH68449,ABB90564,Q6NUS6 Hs.438991 C10orf61|DKFZp564D116|TECT3 protein-coding 1344799 TDD testicular 17,20-desmolase deficiency 6994 GDB:119610 1346610 TDG thymine-DNA glycosylase The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. 1580863 10583946,9489705,14667819,8662714,11937636,18270339,17855402,17602166,17270163,17060459,17029639,16679534,16626738,16620772,15959518,15823533,15668625,15569683,15489334,15252450,15231748,15225156,15146197,12874288,12505994,12493755,12477932,11889051,11864601,11554300,11438542,9299239,8407958,8127859,6287922,1631061,16189514,10961991 6996 NM_003211,AC078819,AF545435,CH471054,AI452763,AL710869,BC001307,BC010945,BC019925,BC037557,BC071714,BC104477,CB047650,CN274338,CR595551,DQ786320 NP_003202,AAN16399,EAW97727,EAW97728,EAW97729,AAH19925,AAH37557,AAI04478,Q05CX8,Q13569,Q3SX60 Hs.584809 GDB:3922480 protein-coding 1352791 TDGF1 teratocarcinoma-derived growth factor 1 1580863 12925698,9013573,11857442,8006041,9576836,10070255,10493495,12649175,18089557,17941089,17925387,17720976,17291450,17030617,16954206,16951234,16176936,15340161,14584041,14581455,12919325,12682303,12477932,12073012,12052855,11909953,11485994,10393436,9876177,8543395,8314343,7860072,2792079,1882841 6997 NM_003212,AC104304,CH471055,M96955,BC022393,BC067844,X14253 NP_003203,EAW64773,EAW64774,AAA61134,AAH22393,AAH67844,CAA32467,P13385,Q8TCC1 Hs.385870 GDB:125188 CR|CRGF|CRIPTO|Cripto-1 protein-coding 1345274 TDGF2 teratocarcinoma-derived growth factor 2, pseudogene 10393436 22816 NG_001244,Y09998 GDB:9958901 CR-2|CRIPTO-2 pseudo 1347488 TDGF3 teratocarcinoma-derived growth factor 3, pseudogene The TDGF3 locus has characteristics of a retrotransposon, including lack of introns and a poly(A) sequence. 1580863 1882841,16954206,15772651 6998 NR_002718,AC000113,AF251549,AF251550,M96956 AAB46353,AAG49538,AAG49539,AAA61135,P51864 Hs.592361 GDB:125189 CR-3|CRIPTO|CRIPTO-3|TDGF1|TDGF2 pseudo 1350982 TDGF4 teratocarcinoma-derived growth factor 4, pseudogene 10393436 22815 NG_001243,AL590004,Y09997 GDB:9957153 CR-4|CRIPTO-4 pseudo 1354457 TDGF5 teratocarcinoma-derived growth factor 5, pseudogene 10393436 22814 NG_001242,AC100821,Y09996 GDB:9957151 CR-5|CRIPTO-5 pseudo 1352893 TDGF6 teratocarcinoma-derived growth factor 6, pseudogene 10393436 22813 GDB:9957149 1342809 TDGF7 teratocarcinoma-derived growth factor 7, pseudogene 10393436 22812 GDB:9957147 1343478 TDH L-threonine dehydrogenase This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species' TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. 1580863 12477932,12361482,11896452,10712613,3536927 157739 NR_001578,AF131216,AJ301562,AK057762,AY101186,AY101187,BC074983 CAC82738,BAB71562,AAM50036,AAM50037,Q8IZJ6 Hs.583896 GDB:11508764 FLJ25033 pseudo 68531 TDO2 tryptophan 2,3-dioxygenase 1358595,1580863,2290313,2290190 8666386,14704851,16892178,16189514,16094384,15489334,15390107,14755447,12634647,12477932,11469796,11140838,2004780 1358595,2290313,2290190 6999 NM_005651,AC093830,CH471056,AK289418,BC005355,BX647341,U32989 NP_005642,EAX04884,EAX04885,EAX04886,BAF82107,AAH05355,AAB08514,P48775 Hs.183671 GDB:120430 TDO|TPH2|TRPO protein-coding 1347185 TDO2L1 tryptophan 2,3-dioxygenase-like 1 7000 GDB:120431 1320052 TDP1 tyrosyl-DNA phosphodiesterase 1 The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. 16189514,11572945,8889548,10521354,18347181,18270339,17948061,17707402,17600775,17081983,16935573,16775218,16141202,15920477,15811850,15744309,15647511,15494395,15489334,15248776,15111055,14761185,14702039,12618186,12508121,12477932,12470949,12244316,12023295,11839309 55775 NM_001008744,AL137128,CH471061,DQ367843,AF182002,AF182003,AK001952,AK023514,AK093235,AL832288,BC006083,NM_018319,BC015474,BC107877,BM661793,BU849335,BX161451,CR602214,CR615550,CR618058,CR622999 NP_060789,NP_001008744,EAW81414,EAW81415,EAW81416,ABC79301,AAF65623,AAF65624,BAA91997,AAH06083,AAH15474,AAI07878,CAD61915,Q32Q25,Q86TV8,Q9BRS7,Q9NUW8 Hs.209945 GDB:11510244 FLJ11090|MGC104252 protein-coding 1343296 TDPX2 thioredoxin-dependent peroxide reductase 2 (thiol-specific antioxidant 2, proliferation-associated gene B) 8496166,8188254 7002 NG_001201,AL161449,X72297 GDB:230264 PAGB pseudo 1314584 TDRD1 tudor domain containing 1 This gene is similar to a mouse gene that encodes a tudor domain protein. Alternatively spliced transcript variants have been described but their full length sequences have not been determined. 1580863 14702039,11279525,12477932 56165 NM_198795,AC022023,CH471066,AF285606,AK024735,AK122916,AL833340,BC035010,BC063133,BQ882979,BX648664,CB136029 NP_942090,EAW49476,EAW49477,EAW49478,EAW49479,EAW49480,AAK31985,BAB14982,AAH35010,AAH63133,Q4G0Y8,Q6P518,Q9BXT4 Hs.333132 GDB:10796637 FLJ21082 protein-coding 1605585 TDRD10 tudor domain containing 10 16710414,15489334,12975309,12477932 126668 NM_001098475,NM_182499,AL162591,AL592078,CH471121,AL713777,AY358195,BC044864,BC100895,BC100896,BC100897,BC100898 NP_001091945,NP_872305,CAH72850,CAQ10669,CAI16188,EAW53194,EAW53195,EAW53196,CAD28538,AAQ88562,AAH44864,AAI00896,AAI00897,AAI00898,AAI00899,Q5VZ19 Hs.387671 DKFZp434M202|RP11-61L14.3 protein-coding 2292096 TDRD12 tudor domain containing 12 14702039,12787504,12477932,11441184 91646 XM_001713629,XM_001713631,XM_001713630,NM_001110822,AC008736,AC008805,AB211063,AK023134,BC049000,BI769394 XP_001713681,XP_001713683,NP_001104292,BAD95490,Q587J7,AAI48520,XP_001713682 Hs.646351 ECAT8|FLJ13072 protein-coding 1320851 TDRD3 tudor domain containing 3 1580863 16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863 81550 NM_030794,AL354764,CH471124,AK023578,AK024660,AL512666,BC020604,BC030514,BC060876,BX537910,CR624827,EU643838 NP_110421,CAH73999,CAH74000,EAW52079,EAW52080,EAW52081,EAW52082,BAB14950,AAH30514,AAH60876,CAD97894,ACC94142,Q5VUZ2,Q5VUZ3,Q9H7E2,CAL37786 Hs.525061 FLJ21007|RP11-459E2.1 protein-coding 1352694 TDRD4 tudor domain containing 4 1580863 54513 Q9NUY9 NM_019038,AK001907 1316056 TDRD5 tudor domain containing 5 1580863 17081983,16710414,15489334,14702039,12477932 163589 Q8NAT2 BC130532,NM_173533,AL160286,AL590987,AL691433,CH471067,AK092142,AK126889,AK127370,BC043368,BC065707,BC089387 AAH89387,AAI30533,Q8NAT2,NP_775804,CAI15400,CAH73723,CAH73724,EAW91051,EAW91052,EAW91053,EAW91054,BAC03815,BAC86946,AAH43368 Hs.197354 FLJ34823|MGC163404|RP11-427G13.1|TUDOR3 protein-coding 1314293 TDRD6 tudor domain containing 6 17215373,14702039,14574404,11181995,9610721 221400 NM_001010870,AL591242,CH471081,AF039442,AK125838,AK131455,BX648686,CR936792,EF185284 NP_001010870,CAH73905,CAH73906,EAX04300,AAC18034,BAD18600,CAI45997,ABM69146,O60522 Hs.656983 DKFZp781I1148|FLJ43850|NY-CO-45|TDR2|bA446F17.4 protein-coding 1350621 TDRD7 tudor domain containing 7 737633,1580863 16713569,16189514,15489334,14603251,12477932,11903063,11527406,10727952 737633 23424 NM_014290,AL449464,AL512590,CH471105,AB025254,AL122110,AW268820,BC028694 NP_055105,CAH71605,EAW58843,EAW58844,BAA76379,CAB59271,AAH28694,Q8NHU6,ABM85047 Hs.193842 KIAA1529|PCTAIRE2BP|RP11-508D10.1|TRAP protein-coding 1315843 TDRD9 tudor domain containing 9 14702039,12477932 122402 AK125978,AL833915,BC016796,BC033662,BC042804,BC128057,BG719020,BU430972,U56244,NM_153046,AL136001,AK093483,AK097429,AK097699 BAC05144,BAC86372,CAD38771,AAH16796,AAH42804,AAI28058,AAC25432,Q4G0Q2,Q86WA0,Q8NDG6,NP_694591,BAC04182,BAC05047 Hs.21454 C14orf75|DKFZp434N0820|FLJ36164|HIG-1|MGC135025 protein-coding 1322527 TDRKH tudor and KH domain containing 1580863 16344560,15955813,15489334,14702039,12477932,10767542,9373149,8125298 11022 AF227192,AK056402,AK225160,AK226092,BC022467,BC032690,CR601319,DA796638,NM_001083965,NM_001083964,NM_001083963,AF227634,AL589765,CH471121,AF119121,NM_006862 AAF36701,Q5SZR3,Q5SZR4,Q5SZR5,Q9NYV3,Q9Y2W6,AAI56178,ABM81748,ABM87751,NP_006853,NP_001077434,NP_001077433,NP_001077432,AAF68379,CAI17175,CAI17176,CAI17177,EAW53408,EAW53409,EAW53410,EAW53411,AAD30971 Hs.144439 GDB:9956185 TDRD2 protein-coding 1351522 TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 1580863 9869635,18177740,17081983,15140898,15016762,14762206,14702039,12861002,12565854,12477932,12376544,12061776,11751932,11358867,11136726,10518497,9889009,9199327,8921372,8396764,8253797,7795606,7642633,1851669 7003 AC013549,AC084859,AC107881,NM_021961,CH471064,M63896,X84839,AB209858,AI189919,AI199443,AK027342,AK075070,AK075176,AK075236,AL035973,AL117450,AL133574,AL833289,BC026959,CR617889,DR000961,BC115398 NP_068780,EAW68520,EAW68521,AAB00791,BAD93095,AAH26959,AAI15399,P28347,Q59EF3,Q8N651 Hs.655331 GDB:128990 AA|REF1|TCF13|TEF-1 protein-coding 1344942 TEAD2 TEA domain family member 2 1580863 8702974,15489334,14702039,12477932,9889009,11358867,10934189 8463 NM_003598,AC010524,CH471177,AK093236,AK290736,AL832240,BC007556,BC018803,BC051301,CR603452,X94440 NP_003589,EAW52469,EAW52470,EAW52471,EAW52472,EAW52473,BAC04104,BAF83425,AAH07556,AAH51301,CAA64214,Q15562,Q8NA25,ABM84089,ABM87459 Hs.515534 GDB:9865308 ETF|TEF-4|TEF4 protein-coding 1323117 TEAD3 TEA domain family member 3 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. 1580863 9889009,12748276,16189514,11358867,9148898,16344560,15489334,15131259,14574404,12477932,11986313,10518497,10379887 7005 NM_003214,AL022721,AL033519,CH471081,AF142482,AK226144,BC010053,BC027877,BC091488,BQ719548,DA856821,X94439 NP_003205,CAD92500,CAD92501,CAD92502,CAD92503,EAX03835,EAX03836,EAX03837,EAX03838,AAD29052,AAH10053,AAH27877,AAH91488,CAA64213,Q7Z6U7,Q7Z6U8,Q7Z6U9,Q7Z6V0,Q96G15,Q99594,Q71U35 Hs.485205 GDB:9864456 DTEF-1|ETFR-1|TEAD5|TEF-5|TEF5 protein-coding 1605719 TEAD4 TEA domain family member 4 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. 8921372,8662936,17652751,15520314,12477932,11358867,10518497,9889009,9373149,8702974,8125298,16189514 7004 NM_003213,NM_201441,NM_201443,AC005911,AC125807,AC131234,CH471116,AK222947,AY101179,BC015497,BM464237,BX640921,U63824,X94438 NP_003204,NP_958849,NP_958851,EAW88872,EAW88873,EAW88874,EAW88875,BAD96667,AAM89497,AAH15497,CAE45959,AAC50763,CAA64212,Q15561,Q53GI4,Q6MZR9,Q8NEV5,Q96BK2,ABZ92031 Hs.94865 GDB:3750558 EFTR-2|MGC9014|RTEF1|TCF13L1|TEF-3|TEFR-1|hRTEF-1B protein-coding 732236 TEC tec protein tyrosine kinase The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. 1580863 7934162,15588985,15492005,15184383,14993283,14679216,14614854,12573241,12515866,12477932,12445832,12049818,11940595,11825908,11716489,11598012,11489907,11328862,11071635,11013262,10823839,10795735,10647781,10518561,10382746,9872994,9473212,9446655,9341160,9299487,9178903,8892607,8632917,8630736,8629002,8621063,7651724,7526158,2284097 7006 NM_003215,AC079118,AC098873,CH471069,U34367,BC101711,BC101713,D29767 NP_003206,EAW93054,EAW93055,AAB60411,AAI01712,AAI01714,BAA06171,P42680,Q14219 Hs.479670 GDB:422180 MGC126760|MGC126762|PSCTK4 protein-coding 1320369 TECTA tectorin alpha The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. 1599380,1599381,1580863 9590290,17661817,17431902,17136632,16718611,15319541,12746400,12162770,11333869,10987647,10196713,9949200,9718342,9503015,9150164,9106521 1599380,1599381 7007 NM_005422,AF055136,AP000646,AP000826,CH471065 NP_005413,AAC26019,EAW67516,EAW67517,EAW67518,O75443,AAI56466 Hs.248162 GDB:6837718 DFNA12|DFNA8|DFNB21 protein-coding 1314106 TECTB tectorin beta The genes for alpha-tectorin (MIM 602574) and beta-tectorin encode the major noncollagenous proteins of the tectorial membrane of the cochlea.[supplied by OMIM] 1580863 15489334,15164054,12477932,9079715 6975 NM_058222,AL391986,CH471066,AF312827,BC113497,BC113499 NP_478129,CAH73718,EAW49542,AAL12829,AAI13498,AAI13500,Q96PL2 Hs.348615 GDB:6837719 KIAA1560|MGC142057|MGC142059 protein-coding 1606464 TEDDM1 transmembrane epididymal protein 1 127670 NM_172000,AL139344,CH471067,AJ515384 NP_741997,CAI19843,EAW91123,CAD56348,Q5T9Z0 Hs.156977 Epdd1|HE9|RP1-223H12.2 protein-coding 1345103 TEF thyrotrophic embryonic factor Thyrotroph embryonic factor (TEF), a transcription factor, is a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. 1580863 7835883,15665112,15489334,15461802,14702039,12805554,12477932,10799536,10591208,9891058,8639829,1916262,16189514 7008 NM_003216,AL008582,AL035659,CH471095,AK091916,AL122101,BC021980,BC039258,BC042476,BX537848,CR456592,CR541827,U06935,U44059 NP_003207,CAI23516,EAW60430,EAW60431,AAH39258,AAH42476,CAD97856,CAG30478,CAG46626,AAA81373,AAB06497,Q10587,CAK54623,CAK54922,ABM92228,ABM84707 Hs.181159 GDB:359741 protein-coding 736097 TEGT testis enhanced gene transcript (BAX inhibitor 1) 1580863,2291960,1598407,2291959,2291961,2291958 12477932,10198159,9660918,9373149,8889549,8125298,12875974,10087504,8530040,17526500,16353209,16344560,15489334 2291960,2291959,2291961,2291958 7009 BC036203,BQ613936,CR602155,CR611691,CR623040,CR624817,CR625997,DA476870,DC319835,DC349385,X75861,NM_003217,NM_001098576,AC084037,AC131157,CH471111,CQ834362,AA057740,AF033095,AK026605,AK124849,AK130050,AK130462,AK225804,AY736129,BC000916 AAH00916,AAH36203,CAA53472,P55061,NP_003208,NP_001092046,EAW58089,EAW58090,EAW58091,EAW58092,EAW58093,CAH05396,AAB87479,AAU29521 Hs.35052,Hs.708025 GDB:378256 BI-1|TMBIM6 testis enhanced gene transcript protein-coding 1342531 TEK TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal) The TEK receptor tyrosine kinase is expressed almost exclusively in endothelial cells in mice, rats, and humans. This receptor possesses a unique extracellular domain containing 2 immunoglobulin-like loops separated by 3 epidermal growth factor-like repeats that are connected to 3 fibronectin type III-like repeats. The ligand for the receptor is angiopoietin-1. Defects in TEK are associated with inherited venous malformations; the TEK signaling pathway appears to be critical for endothelial cell-smooth muscle cell communication in venous morphogenesis. TEK is closely related to the TIE receptor tyrosine kinase. 1578525,1578527,1578531,1578533,1601490,1601505,1580863,1578337,1578345,1601487,1601489,1601493,1601494,1601496,634324,1601510 12477932,12427764,12419314,12138242,12107410,11967990,11866538,11824375,11733376,11513602,11397875,11080633,10995770,10557082,10521483,10369874,10051567,10022833,9764820,9723709,9710115,9660821,8980224,8980223,16614513,16458662,16457819,16157706,16049136,16037627,16020388,15985432,15893943,15893672,15817662,15802272,15781448,15769741,15746084,15536413,15377998,15370298,15340161,15297853,15242771,15210451,14991534,14991531,14726409,13130465,12887596,12878859,12816861,12731667,12711329,12665569,12609966,10766762,8382358,8980225,14665640,14749497,17901375,17728252,17724803,17704802,17562701,17513791,17504972,17446561,17327411,17322632,17258205,17035633,16978614,16978237,16956819,16895971,16830384,16756945,16723371,7835909,7833915,7829101,7783168,7545683,7478529,1312667,15542434 1578525,1578527,1578531,1578533,1601490,1601505,1578337,1578345,1601487,1601489,1601493,1601496,634324,1601510 7010 NM_000459,AL133411,AL355432,AL355433,CH471071,AB086825,AB208796,AK291775,AW020953,BC035514,CA392256,DC322431,DC324016,H25908,L06139 NP_000450,CAI16055,EAW58571,EAW58572,BAC45250,BAD92033,BAF84464,AAH35514,AAA61139,Q02763,Q59HG2,Q5TCU2,Q8IV34,Q8IXB8,ABM83048,ABW03349 Hs.89640 GDB:344185 CD202B|TIE-2|TIE2|VMCM|VMCM1 protein-coding 732609 TEKT1 tektin 1 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis. 1580863 15489334,12477932,12029069,11606253 83659 AK292818,BC014599,NM_053285,AC034305,CH471108,AF357879 BAF85507,AAH14599,Q969V4,ABM81705,ABM84864,NP_444515,EAW90284,EAW90285,AAL27695 Hs.462108 GDB:11508004 protein-coding 1322323 TEKT2 tektin 2 (testicular) This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. 1580863 16710414,15489334,15340058,12477932,12029069,11751288 27285 NM_014466,AL138787,CH471059,AB033823,AF054910,BC022005,BC035620 NP_055281,EAX07391,EAX07392,BAA89350,AAC09343,AAH35620,Q9UIF3,ABM82968,ABM82984,ABM86160 Hs.127111 GDB:10796082 TEKTB1|TEKTIN-T|h-tektin-t protein-coding 1321573 TEKT3 tektin 3 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. 1580863 15489334,14735490,14702039,12477932,11381029,9373149,8125298 64518 NM_031898,AC005703,CH471108,AF334676,AK057390,AK223534,BC031688 NP_114104,EAW89942,EAW89943,EAW89944,AAK15340,BAB71464,BAD97254,AAH31688,Q53EV5,Q9BXF9,ABM82722,ABM85905 Hs.414648 GDB:11508006 FLJ32828 protein-coding 1604519 TEKT4 tektin 4 16189514,15815621,15489334,14702039,12477932 150483 NM_144705,AC097374,CH471219,AK097438,BC021716 NP_653306,AAX88873,EAX10701,EAX10702,AAH21716,Q8WW24 Hs.631517 MGC27019 protein-coding 1605283 TEKT5 tektin 5 14702039,12477932 146279 NM_144674,AC007595,CH471112,AK057433,BC041081,BC130336,BC130338 NP_653275,EAW85179,BAB71484,AAI30337,AAI30339,Q96M29 Hs.143519 FLJ32871|MGC163208|MGC163210 protein-coding 1348520 TELAB1 telangiectasia, benign 1 338411 1605097 TELO2 TEL2, telomere maintenance 2, homolog (S. cerevisiae) 17353931,18160036,11256614,16169070,15345747,14702039,12670948,12477932,11230166,11157797,9734811 9894 NM_016111,AE006467,AL031705,CH471112,AB014583,AK001786,AL080126,AL137394,BC017188,BC028332,CR599116 NP_057195,AAK61284,CAC37283,EAW85647,EAW85648,EAW85649,EAW85650,EAW85651,BAA31658,CAB45724,CAB70722,AAH17188,Q9Y4R8 Hs.271044 CLK2|DKFZp434A073|FLJ10924|KIAA0683|c305C8.3|hCLK2 protein-coding 1322097 TENC1 tensin like C1 domain containing phosphatase (tensin 2) The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. 17006924,16713569,15817639,15117958,12606711,12477932,12470648,11792844,10470851 23371 NM_198316,NM_015319,NM_170754,AC068888,CH471054,AB028998,AF417490,AF518728,AF518729,AK131320,AK172747,AL137564,BC054099,BC110854,BC129828,BC129829,BC131503,BC142668,BC142712,BC150259,BX647126,CA306931,CR607439,CR614736,CR936725 NP_938072,NP_056134,NP_736610,Q63HR2,Q6ZMJ1,EAW96658,EAW96659,EAW96660,BAA83027,AAL14641,AAN03866,AAM74225,BAD18734,CAB70815,AAH54099,AAI10855,AAI29829,AAI29830,AAI31504,AAI42669,AAI42713,AAI50260,CAH56176 Hs.6147,Hs.343334 C1-TEN|C1TEN|DKFZp686D13244|FLJ16320|KIAA1075|TNS2 protein-coding 736009 TEP1 telomerase-associated protein 1 This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. 1580863 12135483,10810353,7876352,17848914,16713569,14606063,12918126,12477932,11942411,11029039,10597287,10551828,9837921,9403057,9389643,9020079 7011 NM_007110,AL355075,CH471078,AB209669,BC126107,BX640983,U86136 NP_009041,EAW66475,BAD92906,AAI26108,CAE45993,AAC51107,A0AUV9,Q59EZ2,Q99973 Hs.508835 GDB:6919855 TLP1|TP1|TROVE1|VAULT2|p240 telomerase associated protein 1 protein-coding 1602955 TEPP testis/prostate/placenta-expressed protein 14652002,12477932 374739 NM_199046,NM_199456,AC010543,CH471092,AY363222,AY363223,BC104458,BC104459,BF980073,BX647108 NP_950247,NP_955535,EAW82959,EAW82960,AAR18688,AAR18689,AAI04459,AAI04460,Q6URK8 Hs.132976 MGC129930|MGC129931 protein-coding 1353130 TERC telomerase RNA component Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. 2291968,2291974,2291964,2291967,2291975,2291972,2291970,2291966,2291969,2291973,2291965,2291971 18054989,17959928,17940095,17936651,17889662,17889661,17640862,17625368,17465827,17395830,17150918,17150759,17098743,16990594,16332973,16319170,16284252,16170363,16047476,16036112,15921388,15849264,15793301,15753647,15613268,15481329,15381700,15339688,15329831,15319288,15098033,14981093,14532990,12972604,12918126,12676774,12661034,12586348,12525685,12514136,12507925,12496479,12384594,12174094,12135483,12090986,12083802,11942411,11788719,11574891,11511096,10983983,10973255,10721988,10591218,10458601,9546436,9143511,8602368,7544491,15749017 2291968,2291974,2291964,2291967,2291975,2291972,2291970,2291966,2291969,2291973,2291965,2291971 7012 NR_001566,XM_001716835,XM_001718708,AC078802,AF047386,AF221907,U85256,U86046,BC128029 XP_001716887,XP_001718760 Hs.436182 GDB:6392571 SCARNA19|TR|TRC3|hTR miscrna 1323104 TERF1 telomeric repeat binding factor (NIMA-interacting) 1 This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. 1580863 7502076,12768206,9391075,16166375,11313893,18221737,18202258,18178559,17848914,17765874,17694070,17681636,17561506,17081983,17020976,16880378,16786598,16756990,16647572,16421973,16358369,16275645,16169070,15792519,15632001,15608617,15389875,15383534,15316005,15231748,15231715,15133513,15100233,14966275,14715659,14702039,12915656,12667345,12530079,12477932,12135354,12080061,12007281,9739097,11971978,11943150,11854288,11813863,11802774,11751684,11744712,11739745,11738049,11701125,11545737,11375976,10988299,10913111,10669743,10581025,9822378,9480811,9326950,9130722,9002672,8614633,8606777,1406665,15181449 7013 NM_017489,NM_003218,AC022893,CH471068,U70993,AF003001,AK123410,AK292529,AY576778,BC014646,BC029378,BC071975,U40705,U74382,X93511 NP_059523,NP_003209,EAW86990,EAW86991,EAW86992,EAW86993,EAW86994,AAB17975,AAB81137,BAF85218,AAT81150,AAH29378,AAB54036,AAB53363,CAA63768,P54274,Q5QGN5,Q8NHT6,ABM83499,ABM86715 Hs.442707 GDB:6393086 FLJ41416|PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1 protein-coding 1347709 TERF1P telomeric repeat binding factor (NIMA-interacting) 1 pseudogene 348567 NG_003158,AL050303,AL109748,AL163204 pseudo 1322035 TERF2 telomeric repeat binding factor 2 This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. 1580863 12181313,12768206,17055345,10338214,9476899,16166375,18309533,18212065,18202258,18197706,18178559,18056407,18025071,17848914,17681636,17670947,17499040,17395247,17081983,17052985,16964243,16880378,16786598,16647572,16223874,15735711,15665826,15632001,15608617,15520325,15489334,15383534,15316005,15314656,15302935,15292264,15265990,15229185,15100233,15005708,14749375,14741354,14690602,14565979,14513051,12915884,12702777,12530079,12477932,12417987,11971978,11938440,11923537,11577237,11545737,11112778,10984620,10888888,10850490,10669743,10570139,10226653,9326951,9326950,8614633,15181449,15893730 7014 NM_005652,AC026464,CH471092,AF002999,BC024890,U95970,X93512 NP_005643,EAW83273,EAW83274,AAB81135,AAH24890,AAD00821,CAA63769,Q15554 Hs.63335 GDB:9579465 TRBF2|TRF2 protein-coding 1320161 TERF2IP telomeric repeat binding factor 2, interacting protein 1580863 14690602,12768206,17055345,10850490,16166375,17499040,16964243,16189514,15838871,15498874,15489334,15383534,15302935,15100233,14702039,14565979,12477932,11545594,10888888,15181449,15316005 54386 NM_018975,AC025287,CH471114,AF250393,AF262988,AF289599,AK000669,BC004465,BC005841,BC016739,BC022428,BC078171,CR600658,CR601111,CR605991,CR612877,CR613478,CR626430 NP_061848,EAW95616,EAW95617,EAW95618,AAQ14259,AAF72711,AAL55783,BAA91317,AAH04465,AAH05841,AAH16739,AAH22428,AAH78171,Q4W4Y2,Q5XKJ9,Q9NYB0 Hs.301419 GDB:11510612 DRIP5|RAP1 protein-coding 1346237 TERF2IPP1 telomeric repeat binding factor 2, interacting protein pseudogene 1 266627 GDB:11510614 1353510 TERT telomerase reverse transcriptase Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. 1580863,2291980,2291982,2291985,2291986,2291989,2291987,2291990,2291993,2291983,2291969,2291966,2291992,2291994 18078517,18069666,18059027,18057229,18054989,18042801,18042045,18038311,18037230,18029765,18027853,17996122,17991730,17978477,17974918,17961306,17960465,17942561,17936651,17896808,17875000,17855516,17848914,17827040,17785587,12699629,9288757,14991929,12135483,15060173,15189140,18339310,18288381,18261581,18201269,17417773,17410334,17395830,17392301,17391727,17383981,17373762,17364895,17360541,17344921,17325661,17296728,17274981,17267499,17267411,17264120,17233832,17211834,17204238,17198740,17197440,17177836,17175353,17433324,17713555,17712489,17705400,17681636,17673177,17671725,17662305,17657844,17644806,17641414,17630431,17625368,17621823,17611690,17609503,17565702,17548428,17537403,17534147,17487429,17481586,17465827,17462602,17460194,17726237,17460043,16525654,16517060,16507993,16490880,16479078,16465394,16460686,16449970,16426912,16412982,16405739,16398404,16373967,16372125,16354694,16344462,16326864,16288728,16286259,16264179,16237755,16234237,16205639,16202213,16179497,16172394,16170363,16135795,16120835,16094384,16093915,16061476,16047476,16565220,16554968,16043710,16036112,16020509,16010690,16002425,15994230,12970752,12952227,12942569,12939469,12939399,12939398,12937127,12918139,12918126,12917431,12915130,12915119,12912919,12904596,12893365,12887925,12869302,12843187,12839970,12839932,12839571,12821782,12810068,12808100,12765058,12759234,12753708,12747968,12729798,12702554,12697823,12689947,12684697,12674332,12667285,12661034,12646176,12632490,12629597,12611896,12598334,12594176,12592364,12586632,12586360,12579337,12576506,12565858,12545159,12529350,12527915,12525188,12517770,12508351,12496479,17141225,17134697,17077107,17060942,17060405,17041957,16990594,16979586,16951325,16939641,16937491,16919029,16890917,16877525,16861355,16843438,16830373,16810748,16794190,16786150,16785237,16772337,16734859,16714764,16708388,16708385,16688717,16685456,16673017,16641908,16627250,16619047,16619045,16614861,16613901,16575014,17172814,15928077,15900578,15885610,15867214,15857955,15849192,15843522,15837730,15817155,15816620,15814878,15809044,15808851,15792951,15788678,15781646,15746653,15741219,15710386,15679862,15655249,15645079,15629899,15621763,15608686,15595642,15569357,15545228,15528369,15516693,15492990,15485861,15477760,15381700,15371422,15371412,15371341,15368248,15367601,15326479,15308640,15268829,15263087,15226182,15215158,15202008,15201989,15199161,15198189,15190070,15168079,15158092,15138842,15112354,15099954,15096579,15094035,15082768,15073136,15055591,15053304,15044100,15010825,15004408,15001567,14981931,14961580,14767556,14744757,14743210,14719074,14719058,14716817,14693268,14688476,14654914,14654902,14646192,14612409,14612390,14606063,14585993,14570874,14568262,14562040,14562019,14532990,14513051,12496279,12487901,12480519,12477932,12452048,12452037,12447689,12439749,12420227,12415959,12393449,12379283,12377759,12368310,12368233,12359427,12297462,12243757,12231532,12218171,12209957,12209700,12198499,12193655,12185596,12181331,12174361,12167716,12151407,12140282,12122013,12119560,12083802,12082628,12082607,12082531,12077343,12077335,12065682,12034742,12032846,12007187,12001122,11986943,11978176,11942411,11940318,11936586,11934015,11932355,11916966,11896565,11896211,11884529,11859969,11855854,11850805,11788906,11788902,11788719,11751869,11748987,11701125,11517292,11322991,11279234,11274138,11191110,11191109,11029039,10835362,10333526,10224060,10197982,10029071,9988278,9973199,9887342,9837921,9751630,9620778,9528864,9389643,9328464,9252327,9110970,9662195,15017382 2291980,2291982,2291985,2291986,2291989,2291987,2291990,2291993,2291983,2291969,2291966,2291992,2291994 7015 NM_198253,NM_198255,AB016767,AB018788,AC114291,AF097365,AF098956,AF114847,AF121948,AF128893,AY007685,CH471102,DQ264729,AB085628,AB086379,AB086950,AF015950,AF018167,BC062321 NP_937983,NP_937986,BAA74724,BAA78344,AAD12057,AAD12786,AAD17210,AAD24464,AAD30037,AAG23289,EAX08165,EAX08166,EAX08167,EAX08168,EAX08169,EAX08170,EAX08171,ABB72674,BAC11010,BAC11014,BAC11015,AAC51672,AAC51724,O14746,O94807,Q8NG38,Q9UBR6,Q9UNR4,Q9UNS6,Q9UQ24,AAC40212,AAI56389 Hs.492203 GDB:9806355 EST2|TCS1|TP2|TRT|hEST2 protein-coding 1603311 TES testis derived transcript (3 LIM domains) Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. Multiple protein isoforms are encoded by transcript variants of this gene. 18158903,17296370,15662727,15656790,15489334,15252854,14702039,12853948,12810672,12695497,12690205,12571287,12477932,11420696,11377796,10950921,10704826,9373149,9045675,8125298,12639940,16189514,9356494 26136 NM_015641,NM_152829,AC073130,AF260225,CH236947,CH471070,AF147329,AF245356,AF245357,AJ250865,AK021575,AK222840,AK291802,AL050162,BC001451,BC040208,BC045580,CR612414 NP_056456,NP_690042,AAQ93367,AAG17635,AAG17636,EAL24364,EAL24365,EAW83494,EAW83495,EAW83496,EAW83497,AAG17612,AAG17613,CAB65119,BAB13846,BAD96560,BAF84491,CAB43302,AAH01451,Q53GU1,Q9UGI8,Q9Y423,ABW03495,ABW03803 Hs.592286,Hs.664957 GDB:11504387 DKFZP586B2022|MGC1146|TESS|TESS-2 protein-coding 1606266 TESC tescalcin 16189514,15489334,14661968,12809501,12477932,11696366,11145610 54997 NM_017899,AC026368,CH471054,AF443207,AK000614,BC015221,BE670015,DB452909 NP_060369,EAW98098,EAW98099,EAW98100,EAW98101,AAL35615,BAA91288,AAH15221,Q96BS2,Q9NWT9,ABM85570 Hs.525709 CHP3|FLJ20607|TSC protein-coding 732889 TESK1 testis-specific kinase 1 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. 61764,1580863,1300048 11294912,10512679,10207045,16189514,11418599,12027893,8537404,15817463,12477932,11555644 61764 7016 CR623884,BC067130,D50863,NM_006285,AL357874,CH471071,AF452589,AF479317,AF507907,AF507908,AF507909,AF521045,AF521046,AF521047,AF521049,BC011799,BC037561,BC038448 AAH67130,BAA09459,Q15569,Q8IXZ8,Q8N6A2,Q8NFD9,Q8NFE1,Q8NFE2,Q8NFJ2,Q8NFJ3,Q8NFJ4,Q8TDC8,Q8WXD6,ABM84253,ABM87642,NP_006276,CAI13441,EAW58374,EAW58375,AAL49755,AAL84790,AAM50515,AAM50516,AAM50517,AAM77907,AAM77908,AAM77909,AAM77911,AAH38448 Hs.708096 GDB:6887129 testis specific protein kinase 1 protein-coding 734237 TESK2 testis-specific kinase 2 This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. 1580863 16344560,15489334,14702039,12477932,11418599,10512679,11555644 10420 NM_007170,AL359540,AL451136,CH471059,AB057597,AJ132545,AK027573,BC022194,BC033085,BX648441,DA990759,DB161528 NP_009101,CAI21723,CAI21724,CAI13092,CAI13093,EAX06986,EAX06987,EAX06988,EAX06989,BAB62909,CAB41970,AAH33085,Q5T152,Q5T153,Q96S53 Hs.591499 GDB:9956955 protein-coding 1602412 TESSP2 testis serine protease 2 14702039,12838346 339906 NM_182702,AC109583,CH471055,AJ544583,AK092703 NP_874361,EAW64787,EAW64788,EAW64789,CAD67566,Q7Z5A4,AAI40234 Hs.585127 protein-coding 1606871 TESSP5 testis serine protease 5 12838346,12477932 377047 NM_199183,AC134504,CH471055,AK128390,AW137088,BC133695,BN000137 NP_954652,EAW64784,BAC87415,AAI33696,CAD68171,Q6ZR98 Hs.667712 protein-coding 1322209 TET1 tet oncogene 1 18163421,15489334,15164054,12646957,12477932,12124344,11214970 80312 NM_030625,AL360177,AL513534,AL713888,CH471083,AB051463,AF430147,AK123436,AL713658,AL832334,AL832337,BC053905 NP_085128,CAH70220,CAI15118,EAW54299,BAB21767,AAM88301,CAD28467,AAH53905,Q8NFU7 Hs.567594,Hs.708977 CXXC6|FLJ10839|FLJ41442|KIAA1676|LCX|bA119F7.1 protein-coding 1606790 TET2 tet oncogene family member 2 16344560,14702039,12646957,12477932,10997877 54790 NM_001127208,AC004069,AC026029,CH471057,NM_017628,AB046766,AB075496,AI084057,AK000039,AK027819,AK055149,BC110509,BC110510,BC150180,BC150201,BX640738,DA391215,DR000714 NP_060098,NP_001120680,EAX06177,EAX06178,BAB13372,BAE45750,BAA90898,BAB55391,AAI10510,AAI10511,AAI50181,AAI50202,CAE45851,Q6N021 Hs.367639 FLJ20032|KIAA1546|MGC125715 protein-coding 2291813 TET3 tet oncogene family member 3 15815621,15489334,12477932,11181995,9455477 200424 AC110801,CH471053,AB007861,AF466365,BC022243,NM_144993,AC073263 AAX93057,EAW99702,BAA23697,AAO33386,AAH22243,O43151,Q86Z24,NP_659430 Hs.516107 KIAA0401|MGC22014 protein-coding 1323824 TEX10 testis expressed 10 737633 12880961,15489334,15334068,15231748,15164053,14702039,12477932,12429849 737633 54881 NM_017746,AL353805,AL445214,CH471105,AB060968,AJ420436,AK000294,AY598337,BC030652,CR593934 NP_060216,CAI12537,CAI12538,EAW58927,EAW58928,EAW58929,BAB87845,BAA91062,AAT06748,AAH30652,Q9NXF1 Hs.494648 FLJ20287|RP11-208F1.2|bA208F1.2 testis expressed gene 10 protein-coding 1354475 TEX101 testis expressed 101 737633 16516155,16388701,15489334,12975309,12477932 737633 83639 NM_031451,AC005392,AC018758,CH471126,AF241268,AF353396,AY014285,AY359077,BC001861 NP_113639,EAW57187,EAW57188,EAW57189,AAK28327,AAK38662,AAK27310,AAQ89436,AAH01861,Q9BY14 Hs.97978 GTPR867|MGC4766|NYD-SP8|PRO1884|SGRG testis expressed sequence 101 protein-coding 1347600 TEX11 testis expressed 11 This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 16189514,16713569,14702039,12477932,11329013,11279525 56159 NM_031276,NM_001003811,AL139109,AL627071,AL627390,CH471132,AF285594,AK057391,AK057523,AK292471,BC036016,BG219070,BU929507 NP_112566,NP_001003811,CAI40154,CAI40155,EAX05331,EAX05332,AAK31973,BAB71465,BAB71520,BAF85160,AAH36016,Q5JQQ6,Q5JQR1,Q8IYF3,ABM85353,ABW03716 Hs.121776 GDB:10796638 TGC1|TSGA3 testis expressed sequence 11 protein-coding 1351277 TEX12 testis expressed 12 This gene is similar to a mouse gene that is expressed in the testis. 15489334,12477932,11279525 56158 NM_031275,AP002884,CH471065,EF444956,AF285600,BC029506,BI561514 NP_112565,EAW67187,EAW67188,ACA05953,ACA05955,AAK31979,AAH29506,Q9BXU0 Hs.524039 GDB:10796639 testis expressed sequence 12 protein-coding 1352852 TEX13A testis expressed 13A This gene is similar to a mouse gene that is expressed in the testis. 1580863 15489334,14531651,12477932,11279525 56157 NM_031274,CH471120,Z74477,AF285597,BC042547,BC108734 NP_112564,EAX02754,AAK31976,AAH42547,AAI08735,Q5H9I5,Q9BXU3,ABZ92542 Hs.567543 GDB:10796640 MGC131984 testis expressed sequence 13a protein-coding 1347068 TEX13B testis expressed 13B This gene is similar to a mouse gene that is expressed in the testis. 15772651,14531651,11279525 56156 NM_031273,AL034399,CH471120,AF285598 NP_112563,CAI42072,EAX02700,AAK31977,Q9BXU2 Hs.333130 GDB:10796641 TGC3B|TSGA5 testis expressed sequence 13b protein-coding 1313466 TEX14 testis expressed 14 This gene is similar to a mouse gene that is expressed in the testis. 1580863 15489334,12711554,12477932,12471243,11279525 56155 NM_031272,NM_198393,AC005666,AC011195,CH471109,AF285601,AI243203,AK125896,AK128217,AL834143,BC040526,BC045647,BG718877,BK000998,CB044007,CB050840 NP_112562,NP_938207,EAW94437,EAW94438,AAK31980,CAD38856,AAH40526,DAA01359,Q8IWB6 Hs.390221 GDB:10796642 testis expressed sequence 14 protein-coding 1322630 TEX15 testis expressed 15 12704671,11279525 56154 NM_031271,AC009314,AC090281,CH471080,AF285605,AL133653,BC140934,BC141841 NP_112561,EAW63431,EAW63432,AAK31984,AAI40935,AAI41842,Q9BXT5 Hs.458316,Hs.571446 GDB:10796643 DKFZP434M2415 testis expressed sequence 15 protein-coding 1603633 TEX2 testis expressed 2 15489334,14702039,12477932,11214970 55852 BC008896,AC016489,AC025362,CH471109,AB051525,AF163260,AF220182,AK000369,AK000758,AK091156,AK091214,AL832371,AL834251,NM_018469,BC033661,BC036672,BC040521,BC040522,BC108279,BX648260,CR627433 NP_060939,EAW94210,EAW94211,BAB21829,AAQ13589,AAF67647,BAA91117,BAA91363,CAD38927,AAH33661,AAH40521,AAI08280,CAH10519,Q2YDX6,Q7Z2T6,Q8IWB9,Q8NE07,Q9NWL7,Q9NX99,Q9NZ39 Hs.175414 DKFZp781G0721|HT008|KIAA1738|TMEM96 protein-coding 1346300 TEX261 testis expressed 261 737633 16303743,15489334,14702039,12975309,12477932,9464256 737633 113419 NM_144582,AC007040,CH471053,AK056410,AK074840,AL080223,AL832385,AY358783,BC010656,BC020251,BC128461,BC128462,BG260090,BI552105,CR592273 NP_653183,EAW99783,EAW99784,EAW99785,AAQ89143,AAH20251,AAI28462,AAI28463,Q6UWH6,Q8IYX2 Hs.516087 MGC32043|TEG-261 testis expressed sequence 261 protein-coding 1347640 TEX264 testis expressed 264 737633 17081983,15489334,12975309,12477932,9373149,14702039,8125298 737633 51368 NM_015926,AC099050,CH471055,AF072733,AK023786,AK023997,AK222938,AK222949,AL832608,AY358972,BC001592,BC008742,CR600828,CR610919,CR611126 NP_057010,EAW65146,AAD22397,BAD96658,BAD96669,AAQ89331,AAH08742,Q53GI2,Q9Y6I9 Hs.517864 DKFZp451H0417|FLJ13935|SIG11|ZSIG11 testis expressed sequence 264 protein-coding 1342529 TEX28 testis expressed 28 17567994,16189514,15489334,15378397,12477932,9268643 1527 NM_001586,AC092402,CH471172,Z46936,Z68193,BC026183,DQ655913,U93720 NP_001577,EAW72754,EAW72755,CAI41959,CAI43243,AAH26183,AAB71379,O15482,Q5H9M2 Hs.672606 GDB:9478354 CXorf2|fTEX chromosome x open reading frame 2 protein-coding 1605740 TEX28P1 testis expressed 28 pseudogene 1 15378397,9268643 728447 NG_005787,AC092402 pTEX pseudo 1604858 TEX28P2 testis expressed 28 pseudogene 2 16382448,15378397,9268643 653363 NG_005788,AC092402,Z68193 CXorf2B|pTEX pseudo 1606392 TEX9 testis expressed 9 16189514,15489334,12477932 374618 NM_198524,AC068726,AC084782,CH471082,AL832050,BC028119,CR621164 NP_940926,EAW77500,AAH28119,Q8N6V9 Hs.511476 MGC40181 protein-coding 1342593 TF transferrin The protein encoded by this gene is a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds 1 ion of ferric iron. The function of this encoded protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. In addition to its function in iron transport, this protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter/allergins from serum. 1601513,1601536,1601514,1601524,1601529,1601537,1601520,1601532,1580863,1601515,1601518 15229288,15292400,14718574,18344013,18257091,18245657,18097132,17980706,17976429,17728504,17711300,17640392,17573378,12207902,12175089,12165535,12145410,12135367,12111369,12044175,11940510,11920219,11903051,11800564,11785295,11749962,11725818,11703331,11702220,11606717,11445282,11436564,11297622,11110675,11027676,10931525,10029548,9803271,9760232,9609685,9570576,9373149,9358047,9312001,9272172,8499451,8125298,12210842,7498159,6953407,17496814,17206377,17192785,17119318,17116317,17047092,17011669,17008590,16740002,16538641,16497717,16373913,16339299,16335952,16331960,16300393,16288727,16199891,16169070,16085060,16047113,15975770,15924420,15892129,15698609,15648851,15634274,15536627,15489334,15466165,15327995,15319290,15271890,15214510,15214509,15111541,15084671,15060098,15042587,14980223,14760718,14757931,14702039,14645044,14643898,14614458,14580189,14567694,14523999,12951205,12942785,12939601,12884526,12819023,12626412,12617162,12477932,12473103,12459033,12458193,12450380,12223217,6833213,6690479,6585826,6322780,6268632,5927288,5711079,5610700,3858812,3786138,3678832,3436225,3106157,3057819,2780570,1932003,1851757,1809186,1602151,15252009,15525538,12522210 1601513,1601536,1601514,1601524,1601529,1601537,1601520,1601532,1601515,1601518 7018 NM_001063,AC080128,AC083905,AF058327,AF288144,AY308797,CH471052,DQ525716,M11372,M17611,M17614,M21569,M21570,X04600,AF118093,AJ252279,AK126941,AK222755,BC020671,BC022262,BC045772,BC054870,BC059367,BX537660,BX648533,CR605799,CR936810,DQ923758,M12525,M12530,M26641,S95936,U88581 NP_001054,AAC63506,AAK77664,AAP45055,EAW79164,EAW79165,EAW79166,EAW79167,EAW79168,EAW79169,EAW79170,ABF47110,AAA61141,AAA61147,AAA61148,AAA61143,AAA61145,CAA28265,AAF22037,CAB96907,BAD96475,AAH20671,AAH59367,ABI97197,AAA61142,AAA61140,AAA61233,AAB22049,AAB97880,P02787,Q06AH7,Q1HBA5,Q53H26,Q9UHS1 Hs.518267 GDB:120432 DKFZp781D0156|PRO1557|PRO2086 protein-coding 1605718 TFAM transcription factor A, mitochondrial This gene encodes a mitochondrial transcription factor that is a key activator of mitochondrial transcription as well as a participant in mitochondrial genome replication. Studies in mice have demonstrated that this gene product is required to regulate the mitochondrial genome copy number and is essential for embryonic development. A mouse model for Kearns-Sayre syndrome was produced when expression of this gene was eliminated by targeted disruption in heart and muscle cells. 8333869,3594571,18451773,18430995,18258228,18248889,18028422,17707600,17537576,17497594,17339235,17192785,17167045,16631115,16202542,16043643,15547250,15526033,15509786,15489334,15464268,12921794,12897151,12839966,12686611,12477932,12127986,12095695,12068295,11964388,11457459,9063738,7789991,2035027,1737790,1610904,15525513 7019 NM_003201,AC023170,CH471083,X64269,BC018628,BC029815,BC104482,BC126366,BT019658,BT019659,CR407653,CR592676,CR594684,CR603240,CR611959,CR617172,CR621535,EU279428,M62810 NP_003192,EAW54171,EAW54172,EAW54173,EAW54174,EAW54175,CAA45562,AAH18628,AAI04483,AAI26367,AAV38464,AAV38465,CAG28581,ABX72056,AAA59849,Q00059,Q05D31,Q3SX57,Q6LES8 Hs.642966 GDB:127555 MtTF1|TCF6|TCF6L2|mtTFA protein-coding 1345496 TFAMP1 transcription factor A, mitochondrial pseudogene 1 12095695,10737800,8333869,2035027 260341 NR_001288,AC074389,AJ320516,CH236953 GDB:128199 MTTF1|TCF6L1 pseudo 1321067 TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 and metallothionein (MIM 156350) promoters.[supplied by OMIM] 1580863 12072434,8321221,8661133,12586840,18042070,17695722,17651731,17621592,17556657,17513613,17355223,17318229,17237224,17224907,17097614,16946713,16867219,16707488,16636674,16502414,16361535,16260418,16236267,16108032,15930016,15870067,15864740,15671555,15569994,15548692,15498833,15331612,15039486,14752511,14744778,14551210,14517991,12975361,12960147,12843180,12595566,12477932,12475396,12358602,12228234,12226108,12221107,12203368,12145340,11973333,11744733,11604514,11438643,10987820,10567358,10037142,9830047,9632747,9169421,8190633,3063603,2010091,1998122,1916817,1587861,16189514,16533807 7020 M61156,X52611,NM_003220,NM_001032280,AL138885,CH471087,X77343,BC017754,BC071713,CB990517,CR601719,CR604637,M36711,NM_001042425 AAA02487,CAA36842,P05549,Q5TAV5,Q8N1C6,Q96SH0,Q96SH1,ABM82025,ABM85207,NP_001035890,NP_003211,NP_001027451,CAC38370,CAC38371,CAI20064,CAI20065,EAW55248,EAW55249,EAW55250,EAW55251,CAB59735,AAH17754,AAA35539 Hs.519880 GDB:128106 AP-2|AP-2alpha|AP2TF|TFAP2 protein-coding 1314875 TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. 1331350,1601544,1601543,1580863 12072434,12169688,7555706,18358611,17728669,17630431,17574780,17525748,17185054,17123722,16954217,16787706,16420676,16373396,16344560,15940393,15722186,15569994,15489334,15245963,15057523,14673213,14574404,12586840,12477932,12270648,12228234,12192491,11744733,11505339,11278660,10802654,9271117,8889548,8661133,7729426,7993622 1331350,1601544,1601543 7021 AJ278356,AL031224,AL049693,CH471081,Y09912,AK291172,AU141084,BC037225,BU738725,X95694,NM_003221 NP_003212,CAC01130,CAB41305,CAI20235,EAX04355,EAX04356,EAX04357,CAA71047,BAF83861,AAH37225,CAA64990,Q92481,ABM82369,ABM85547 Hs.33102 GDB:681506 AP-2B|AP2-B|MGC21381 protein-coding 1346626 TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. 1331350,1580863 12072434,9113991,18042070,17947476,17875680,16867219,16636674,15700319,15569994,15548692,15489334,14565844,12833450,12801994,12586840,12490322,12477932,12228234,12226108,11859873,11780052,11773066,11744733,11095974,8661133,7891714,7846046 1331350 7022 NM_003222,AJ315934,AL121920,CH471077,BC035664,BC051829,U85658,X95693,AB041717,AF544986 CAC86997,CAC10334,EAW75532,AAH35664,AAH51829,AAC51305,CAA64989,Q8IWX4,Q92754,NP_003213,BAC11805,AAN37906 Hs.473152 GDB:5560451 AP2-GAMMA|ERF1|TFAP2G|hAP-2g protein-coding 1347905 TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 17213182,16684505,11733187 83741 NM_172238,AL031224,CH471081,AY028376,DT221015 NP_758438,CAD92558,EAX04354,AAK16926,Q7Z6R9,AAI66653 Hs.434107 TFAP2BL1 protein-coding 1352189 TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 737633,1580863 14636996,12477932 737633 339488 NM_178548,AC004865,AL157951,CH471059,AY326454,BC041175 NP_848643,CAI23520,EAX07409,AAQ91614,AAH41175,Q6VUC0 Hs.567844 AP2E|MGC49007 protein-coding 1318080 TFAP4 transcription factor AP-4 (activating enhancer binding protein 4) 1580863 2833704,2123466,18052253,17081983,15616553,15489334,15302935,12477932,10438607,9482665,8786101,7933101 7023 AC004653,AC009171,CH471112,AB209146,BC010576,BC039696,CR541726,CR605422,CR610803,S73885,X57435,NM_003223 AAC17116,EAW85320,EAW85321,EAW85322,BAD92383,AAH10576,CAG46527,AAB32235,CAA40683,Q01664,Q59GG3,Q6FHM5,ABM84543,ABM86219,NP_003214 Hs.513305 GDB:455279 AP-4 protein-coding 1351892 TFB1M transcription factor B1, mitochondrial The transcription of genes from mitochondrial DNA requires a mitochondrial RNA polymerase (see POLRMT, MIM 601778) and a DNA-binding transcription factor (see TFAM, MIM 600438). Transcription factor B1 (TFB1M) is a part of this transcription complex.[supplied by OMIM] 1580863 17557812,15684387,15489334,15110318,14574404,12897151,12532263,12496758,12477932,12068295,11809803,10810093 51106 AL139101,CH471051,AA405744,AF151833,AK289484,BC005183,BC017788,BC054007,BU849912,CR595073,NM_016020 NP_057104,CAI20506,EAW47690,AAD34070,BAF82173,AAH05183,AAH17788,Q8WVM0,ABM82896,ABM86085 Hs.279908 GDB:11508010 CGI-75|CGI75|mtTFB|mtTFB1 protein-coding 1316077 TFB2M transcription factor B2, mitochondrial 1580863 12068295,17557812,17031457,16710414,15684387,15526033,15489334,14702039,12897151,12532263,12477932 64216 NM_022366,AL139094,AL356583,CH471148,AF529366,AK026314,AK026835,BC003383,BC042010 NP_071761,EAW77149,EAW77150,EAW77151,EAW77152,EAW77153,AAQ09600,BAB15441,BAB15566,AAH03383,Q9H5Q4,ABZ92047 Hs.706910 GDB:11508012 FLJ22661|FLJ23182|Hkp1 protein-coding 1315527 TFCP2 transcription factor CP2 1580863 8157699,18307033,17902044,16713569,16710089,16648487,16272261,15489334,12661759,12555245,12477932,12393799,11940654,11865070,11574690,11283204,11073954,11003662,10888618,10455131,9685356,9371597,8586452,8289393,8114710,8035790,7828600,1732747,16189514 7024 AAB29976 NM_005653,AC087884,AC139768,CH471111,AK291264,BC003634,CR599664,M84810,U03494,U03495 NP_005644,EAW58174,EAW58175,EAW58176,EAW58177,EAW58178,BAF83953,AAH03634,AAA21324,AAA21325,AAB29976,Q12800,Q9UD75 Hs.48849 GDB:361007 CP2|LBP-1C|LSF|SEF|TFCP2C protein-coding 1313494 TFCP2L1 transcription factor CP2-like 1 1580863 10644752,15815621,15489334,15471945,12477932,11073954,1173954 29842 NM_014553,AC013399,AC079988,CH471103,AF198488,AL137740,BC064698 NP_055368,AAX88871,AAY24072,EAW95250,EAW95251,AAF32275,CAI46212,AAH64698,Q53RS7,Q5JV87,Q9NZI6,ABZ92231 Hs.156471 CRTR1|LBP-9|LBP9 protein-coding 1346598 TFDP1 transcription factor Dp-1 The E2F transcription factor family (see MIM 189971) regulates the expression of various cellular promoters, particularly those involved in the cell cycle. E2F factors bind to DNA as homodimers or heterodimers in association with dimerization partner DP1. TFDP1 may be the first example of a family of related transcription factors; see TFDP2 (MIM 602160).[supplied by OMIM] 1580863 8405995,9190208,16135794,15863509,15536069,15489334,14618416,12607600,12477932,12150994,12029633,12004135,11331592,11042687,10540350,10082561,9704927,9501179,9027491,8846921,8832394,8816502,8755520,8413592,8039504,7958925,7958924,7760804,7739537,16189514,7892279,8816798 7027 BC011685,BC036601,CR603875,CR614715,CR616214,CR621830,L23959,NM_007111,AF550129,AL442125,CH471085 EAX09218,EAX09219,AAH11685,AAA58440,Q14186,Q5JSB5,Q5JSB6,Q5JSB7,ABM83791,ABM87113,NP_009042,AAN46090,CAI39787,CAI39788,CAI39789,EAX09216,EAX09217 Hs.79353 GDB:450507 DP1|DRTF1|Dp-1 protein-coding 1345068 TFDP1P transcription factor Dp-1 pseudogene 9027491 7028 NG_001202,U58192 GDB:1230506 pseudo 1314075 TFDP2 transcription factor Dp-2 (E2F dimerization partner 2) 1580863 7784053,15489334,12927774,12477932,12036888,10090723,9689056,9501179,9368098,9027491,7739537,16189514,8755520 7029 NM_006286,AC112504,AC128648,AC133435,AY509596,CH471052,AL080206,BC007976,BC013993,BC021113,CR592926,CR597951,CR613689,L40386,U18422,U35117 NP_006277,AAR89905,EAW78977,EAW78978,EAW78979,EAW78980,EAW78981,CAB45775,AAH21113,AAA69016,AAB60378,AAC50642,Q14188,Q9UG28,ABZ92192 Hs.379018 GDB:638814 DP2|Dp-2 protein-coding 1353749 TFDP3 transcription factor Dp family, member 3 17062573,12477932,12097419 51270 NM_016521,CH471107,Z77249,AF219119,BC074762,BC117336,BC126361 NP_057605,EAX11773,AAF37562,AAH74762,AAI17337,AAI26362,Q5H9I0,ABZ92371 Hs.142908 CT30|E2F-like|HCA661|MGC161639 protein-coding 1351703 TFE3 transcription factor binding to IGHM enhancer 3 TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types (Henthorn et al., 1991 [PubMed 1685140]).[supplied by OMIM] 1599384,1580863 18278810,18176180,17905124,17046750,16766266,16737956,15782069,15747097,15324660,12748276,12551947,12477932,11930005,11801598,11748221,11467950,11358836,11313885,11244503,10973944,10644981,10557285,9806910,9765209,9393982,8986805,8872474,8336698,2338243,2044953,1672758,11018012,17353931,1685140 1599384 7030 NM_006521,AC146820,AF196779,BX572102,CH471224,X97160,X99721,AL161985,BC001532,BC026027,CR618971,X51330,X96717 NP_006512,CAI95779,EAW50711,EAW50712,EAW50713,EAW50714,CAA65800,CAA68061,CAI46207,AAH26027,CAA35714,CAA65478,P19532,Q5JU74,ABZ92029 Hs.274184 GDB:125870 RCCP2|TFEA protein-coding 1319997 TFEB transcription factor EB 1580863 2115126,17285572,15644781,15489334,15118077,14702039,14574404,12837690,12719541,12477932,10707962,9806910,8530024,16189514 7942 AJ535461,AL035588,AL365205,CH471081,AJ608786,AJ608787,AJ608788,AJ608789,NM_007162,AJ608790,AJ608791,AJ608792,AJ608793,AJ608794,AK095061,BC006225,BC032448,CR595362,CR614783,M33782 NP_009093,CAD59560,CAD92604,CAI22453,CAI22454,CAI22455,CAI95733,CAI95734,CAI95735,CAI95736,CAI95737,CAO72131,CAQ07961,CAQ07962,EAX04055,EAX04056,EAX04057,EAX04058,CAE77681,CAE77672,CAE77673,CAE77674,CAE77675,CAE77676,CAE77677,CAE77678,CAE77679,AAH06225,AAH32448,AAA36730,P19484,Q4VXW8,Q4VXX0,Q4VXX2,Q5QPI0,Q5QPI1,Q5QPI2,Q709A5,Q709A8,Q709A9,Q709B0,Q86WB1,ABZ92196 Hs.485360,Hs.705396 GDB:9956211 AlphaTFEB|TCFEB protein-coding 735415 TFEC transcription factor EC 1580863 9256061,12853948,12690205,12477932,11818452,11467950,9806910,8336698,16189514 22797 NM_001018058,NM_012252,AC073141,AC096551,CH236947,CH471070,BC029891,BX538223,CR933605,D43945 NP_001018068,NP_036384,AAS07449,AAS02009,EAL24366,EAW83490,EAW83491,EAW83492,AAH29891,CAI45926,BAA21908,O14948,Q75KY0,Q75MG2 Hs.125962 GDB:9956711 TCFEC|TFECL protein-coding 1344671 TFF1 trefoil factor 1 Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer, and affect healing of the epithelium. This gene, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. 1580863,625375,2291996,2291999,2292003,2292004,2292010,2292005,2292012,2292002 15967118,15924415,15849833,15821928,15578191,15541729,15489334,15340161,15177868,15123808,15115253,14756547,14563942,12613926,12477932,12407144,12379766,12034770,10982763,10950923,10830953,9070946,8521850,8405856,6324130,3838275,3822834,3261981,3146413,3041593,2311759,2185238,1707960,16009131,15989967,15019994,15304487,15339660,15345777,15694343,10490106,10673290,9355742,9096235,2303034,9043862,18322525,17982272,17651883,17610997,17317669,16861234,16830362,16718800,16715141,16713569,16474375,16308573,16189514,16142316,16142311 625375,2291996,2291999,2292003,2292004,2292010,2292005,2292012,2292002 7031 NM_003225,AB038162,AP001623,AP001746,CH471079,X05030,BC032811,BQ083523,BU539534,M12075,X00474,X52003 NP_003216,BAB13729,BAA95532,EAX09569,CAA28695,AAH32811,AAA52402,CAA25155,CAA36254,P04155 Hs.162807 GDB:119722 BCEI|D21S21|HP1.A|HPS2|pNR-2|pS2 trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) protein-coding 731368 TFF2 trefoil factor 2 (spasmolytic protein 1) Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. 1580863,2291999 10830953,10716671,10189055,9781055,9272936,9070946,9050913,8405856,7961636,2303034,1505966,8836141,9043862,17982272,17332476,17118693,16830362,16786324,16718800,16359755,16166422,16142316,15984970,15578191,15489334,15256384,15177883,15177880,15115253,15101998,14759512,13679442,12717829,12613926,12477932,12054609,10950923 2291999 7032 NM_005423,AB038162,AP001623,CH471079,U47292,BC032820,BM817851,BM853946,X51698 NP_005414,BAB13730,EAX09570,AAB05397,AAH32820,CAA35995,Q03403 Hs.2979 GDB:128989 SML1|SP protein-coding 736458 TFF3 trefoil factor 3 (intestinal) Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. 1580863,2291999 8454642,9043862,18353006,17762162,17216196,17018241,17008636,16830362,16410243,16278592,16166422,16142316,16142311,16110118,15733066,15665295,15645121,15578191,15489334,15340161,15083192,14968359,14690424,14637006,12663147,11193208,10950923,10830953,10051448,9070946,8940297,8833157,8641134,8346203,7718582,7669039,12613926,12477932,12395334,12006524,11837892,11235998 2291999 7033 NM_003226,AB038162,AP001623,AP001746,CH471079,U25657,AF432265,BC017859,BQ016069,L08044,L15203 NP_003217,BAB13731,BAA95531,EAX09571,EAX09572,AAA83628,AAL28111,AAH17859,AAA36766,AAA59981,Q07654,Q96NX0,ABM82889,ABM86079 Hs.82961 GDB:629964 HITF|ITF|TFI|hP1.B trefoil factor 3 protein-coding 1320255 TFG TRK-fused gene 1580863 12761501,7565764,16547966,16341674,16189514,16169070,15557341,15188455,14702039,12477932,12237775,11943732,11591653,11075717,10921922,10896916,10816433,10764799,10556217,10482988,9741627,9710204,9446569,9169129,9121430 10342 NM_006070,NM_001007565,AC069223,CH471052,AB097040,AB097041,AK093456,AK123588,AK127920,BC001483,BC009241,BC023599,BC041600,BE409447,BM746125,BT007428,CR456781,CR591931,CR598132,CR603441,CR616150,CR619391,CR623738,Y07968 NP_006061,NP_001007566,EAW79813,EAW79814,EAW79815,EAW79816,EAW79817,BAC77393,BAC77394,AAH01483,AAH09241,AAH23599,AAH41600,AAP36096,CAG33062,CAA69264,Q05BK6,Q7Z426,Q7Z427,Q8TDJ5,Q92734,Q969I2,ABM83120,ABM86315 Hs.518123 GDB:9956398 FLJ36137|TF6|TRKT3 protein-coding 1322916 TFIP11 tuftelin interacting protein 11 1580863 11256614,18367544,17081983,16381901,15868102,15489336,15489334,15302935,12529303,12477932,11991638,11230166,11076863,11042152,10806191,10591208 24144 BC011599,BC033080,BT007274,BX354919,CR620578,CT841511,AL080147,NM_012143,NM_001008697,CH471095,Z95115,Z99714,AF070662,AK025443,AK025739,AL050258 CAB45740,AAH11599,AAH33080,AAP35938,CAJ86441,Q0JU46,Q20WL0,Q8N523,Q9UBB9,CAL37965,CAK54393,CAK54692,ABM83177,ABM87848,NP_036275,NP_001008697,EAW59722,EAW59723,EAW59724,CAI17979,CAI17878,AAD20968,CAB43360 Hs.20225 GDB:11508489 FLJ22086|NTR1|TIP39|bK445C9.6|hNtr1 protein-coding 1344553 TFP transferrin pseudogene 3678832 7034 NG_003164,M22375 GDB:119611 pseudo 1344546 TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) This gene encodes a protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. The encoded protein is glycosylated and predominantly found in the vascular endothelium and plasma in both free forms and complexed with plasma lipoproteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been confirmed. 1578543,1578547,1580863 7598447,2271516,18327407,18217145,18180609,18067603,17951326,17890962,17762532,17704111,17702963,17469034,17196206,17180732,17082321,17003923,16879232,16765424,16516912,16488980,16431924,16380494,16344560,16335952,16270631,16261634,16247609,16246254,16113753,15892865,15886798,15845911,15817451,15604416,15489334,15467908,15351861,15340161,15339683,15307537,14656922,14610342,12893029,12871406,12818258,12787023,12540955,12482841,12477932,12428111,12408975,12270558,12195688,12193974,12117418,12038800,12028585,11864704,11848461,11816723,11776329,11776326,11772005,11697721,11693665,11686353,11460016,11380428,11166776,11057878,10996745,10922378,10859319,10856975,10391209,10348905,9867356,9252393,9242660,9199408,8639592,8327992,8104873,7841311,7706485,7498454,3492226,3422166,3024756,2927510,2781520,2553722,2452157,2002045,1993173,1558967,1353057 1578543,1578547 7035 AK130306,AU136083,BC014332,BC015514,CA418214,CR626209,CR626671,J03225,NM_001032281,AB035127,AC007319,AC098485,AY263365,CH471058,M58650,M59499,S63486,AB209866,AF021834,NM_006287 AAH15514,AAA52022,P10646,Q53TS4,Q59EE5,NP_006278,NP_001027452,AAY14807,AAO89075,EAX10921,EAX10922,EAX10923,AAA59480,AAA59526,BAD93103,AAD01700 Hs.516578 GDB:127364 EPI|LACI|TFI|TFPI1 protein-coding 736798 TFPI2 tissue factor pathway inhibitor 2 724777,1580863 8914837,18097563,18053161,17558445,17464989,17372906,17352822,17208328,17138934,17023682,16965396,16641089,16580726,16303743,16247609,15932872,15685245,15592528,15489334,15467913,15231748,15221977,15183047,14983234,14970225,14702039,14678821,14623891,14525759,12921785,12881707,12876637,12853948,12787920,12757776,12738994,12690205,12632077,12606321,12477932,11945080,11840337,11834519,11342222,10496984,10026147,9548189,9445254,8945635,8661135,8555184,8159751,7896752,6884838,3276312 724777 7980 AC002076,AF217542,AY044097,CH236949,CH471091,AK024817,AK075425,AK075427,AK092499,AK129833,AY691946,NM_006528,BC005330,BC034155,CR590763,CR590890,CR591009,CR591590,CR591910,CR592097,CR592180,CR592379,CR592954,CR593290,CR593352,CR593377,CR593463,CR593630,CR593637,CR593701,CR593891,CR594133,CR594214,CR594306,CR594424,CR594855,CR594877,CR595232,CR595356,CR595520,CR596155,CR596690,CR596932,CR597321,CR597470,CR597697,CR597753,CR597838,CR597862,CR598381,CR598467,CR598933,CR599133,CR599406,CR599490,CR599758,CR600488,CR600559,CR600633,CR601201,CR601552,CR601800,CR602629,CR603147,CR603433,CR603679,CR603850,CR604102,CR604628,CR605074,CR605264,CR605333,CR605727,CR606059,CR606219,CR606428,CR606533,CR606635,CR607142,CR607204,CR607266,CR608257,CR608970,CR609032,CR609544,CR609583,CR609584,CR610027,CR611193,CR611856,CR611954,CR612082,CR612450,CR612680,CR612745,CR613394,CR613633,CR613706,CR613785,CR613976,CR615191,CR615389,CR615468,CR615557,CR615838,CR616280,CR616517,CR616616,CR617098,CR617656,CR617744,CR618383,CR618532,CR618758,CR618958,CR619096,CR619294,CR619392,CR619684,CR619864,CR619951,CR620167,CR620570,CR620705,CR621074,CR621115,CR621169,CR621703,CR621839,CR623265,CR623266,CR623399,CR623818,CR624658,CR624861,CR625090,CR625860,CR626074,CR626216,CR626611,CR626794,CR626846,D29992,L27624 NP_006519,AAS02022,AAK13254,AAK72693,EAL24140,EAW76808,EAW76809,EAW76810,EAW76811,BAC03906,AAH05330,AAH34155,AAU04568,BAA06272,AAA20094,P48307,Q66ME8,Q8NAK6,Q8NE89,Q96QP2,ABM83459,ABM86670 Hs.438231 GDB:354485 FLJ21164|PP5|REF1|TFPI-2 protein-coding 733579 TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 17395368,17081983,17041757,16189514,15489334,12477932,10644725,10086727 29844 NM_013342,AC012314,CH471135,AF052052,BC001728,BC004281,BC007776,CR590072 NP_037474,EAW72185,EAW72186,EAW72187,EAW72188,EAW72189,AAD45182,AAH04281,AAH07776,P0C1Z6 Hs.590939 GDB:10796999 FB1|amida protein-coding 1320887 TFR2 transferrin receptor 2 This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1599386,1580863 10409623,15319276,18245657,18083267,17956864,17847004,17298224,17202145,17182845,17042772,16932966,16893896,16706826,16634833,16493621,16085060,16054692,15987753,15894659,15863206,15836704,15785438,15749661,15521925,15486069,15319290,15317665,15084147,15015967,14702039,12921947,12704209,12681966,12667993,12656741,12531241,12477932,12406888,12393650,12150153,12139409,12134060,12130528,11675342,11358388,11313241,11027676,10802645,10748106,10638746,9799793,9465039 1599386 7036 NM_003227,AC099394,AF053356,CH236956,CH471091,DQ496110,AF067864,AF085928,AK000421,AK022002,BC142630,BC150192,BI917390,CR602135,CR611302,DR004213 NP_003218,AAC78796,EAW76506,EAW76507,EAW76508,EAW76509,EAW76510,ABF47099,AAD45561,BAA91153,BAB13951,AAI42631,AAI50193,Q1HE13,Q2TB69,Q9UP52 Hs.544932 GDB:9848851 HFE3|MGC126368|TFRC2 protein-coding 733275 TFRC transferrin receptor (p90, CD71) 1580863,2292016,2292018,2292028,2292024,2292027,2292036,2292017,2292021,2292026,2292022,2292023,2292020,2292025 9341758,10451539,15569681,16189514,12071581,12032198,11997026,11944994,11929045,11891802,11800564,11783942,11702220,11096344,10638746,10531064,10377239,10192390,9782058,9465039,9448136,9428630,9414644,9358047,9136890,9120267,8671324,8631371,8408022,8394993,7994765,7864799,7789520,7780197,6309000,6273413,6268632,6094009,3582362,3568132,3013873,3007223,2507316,2398066,2327986,2298808,2229063,1421757,1421756,1380674,15784911,17327328,17287727,17173037,17125792,17081065,17062801,16893896,16788758,16704960,16564538,16508012,16354665,16335952,16332734,16326028,16325581,16271988,16092918,16085060,15987753,15951569,15941956,15924420,15894659,15880641,15775751,15668490,15623846,15592455,15525538,15489334,15371488,15349772,15313461,14980223,14769051,14752097,14727087,14722085,14705946,14691533,12904899,12767055,12707725,12667138,12553165,12538733,12477932,12473103,12445428,12406888,12372835,12222675,12210842,12200453,12163483,1871153,15229288,14612438,6090955,18166587,18155160,18003730,17994011,17956864,17927572,17493600,17407154 2292016,2292018,2292028,2292024,2292027,2292036,2292017,2292021,2292026,2292022,2292023,2292020,2292025 7037 NM_003234,AC024937,AF187320,CH471191,DQ496099,AB209254,AK291723,BC001188,BX537966,M11507,X01060 NP_003225,AAF04564,EAW53670,EAW53671,EAW53672,EAW53673,ABF47088,BAD92491,BAF84412,AAH01188,CAD97930,AAA61153,CAA25527,P02786,Q1HE24,Q7Z3E0,ABM83785,ABM87107 Hs.529618 GDB:120433 CD71|TFR|TFR1|TRFR transferrin receptor protein-coding 735819 TG thyroglobulin 1600141,1580863 3016640,14718574,18385936,17902201,17671725,17644307,17550957,17526951,17278897,17244789,16679516,16646680,16477365,16421571,16403815,16344560,16271015,16260629,16230285,15785246,15769978,15579800,15579752,15562032,15272924,15070908,14764582,14633662,14557492,12973666,12819023,12804099,12709678,12679418,12477932,12477859,12387814,12022704,11935320,11916630,11581009,11294872,11124863,10636893,10524569,10487692,10448091,10199792,10049727,9492085,9287346,9186272,9006956,8797845,8615697,8530385,8269951,8094490,7793989,4043966,3971976,3967888,3681978,3595599,3211159,2991855,2914619,2760035,1939080,1639210,1371467 1600141 7038 AB209159,AU141420,AU141607,AU141923,AU142151,BC127887,BC140933,U93033,X02154,X05615,AF080484,AF105687,AF170489,AF230666,AF230667,AF235100,AF237421,AF255396,AF305872,CH471060,X02749,NM_003235 BAD92396,AAI27888,AAI40934,AAC51924,CAA26089,CAA29104,P01266,Q59GF0,Q9NYD9,Q9NYM1,NP_003226,AAD50912,AAC95473,AAD51647,AAF64045,AAF71743,EAW92156,EAW92157,EAW92158,CAA26527 Hs.654591 GDB:120434 AITD3|TGN protein-coding 1352636 TGCT1 testicular germ cell tumor susceptibility 1 10655070 50830 1315219 TGDS TDP-glucose 4,6-dehydratase 1580863 15489334,15057823,12477932 23483 NM_014305,AL139318,AF048686,AJ006068,AY544125,BC005284,BC033675,CR606771,AL359708,CH471085 NP_055120,AAD50061,CAA06840,AAT11156,AAH05284,AAH33675,O95455,Q05DQ3,Q2TU31,Q5T3Y9,EAX08941,CAI12084,CAI12411,EAX08940 Hs.12393 TDPGD protein-coding 736273 TGFA transforming growth factor, alpha Transforming growth factors (TGFs) are biologically active polypeptides that reversibly confer the transformed phenotype on cultured cells. TGF-alpha shows about 40% sequence homology with epidermal growth factor (EGF; MIM 131530) and competes with EGF for binding to the EGF receptor (MIM 131550), stimulating its phosphorylation and producing a mitogenic response.[supplied by OMIM] 1578553,1578554,1578555,1578628,1578629,1578630,1580863,1578721 17993868,17962208,17922051,17698969,17629209,11278323,2103501,10918572,10861448,18156207,18073139,12468378,12297049,12223352,12138086,12120215,11952158,11859273,11823465,11739402,11727256,11101516,10552925,10523832,10375383,10230395,10066034,9813060,9637529,9285829,8910478,8358733,8338831,8224876,8212535,8123596,8100397,3855503,8025160,7947554,7727772,7579819,6088071,17592292,17553928,17525275,17334078,17313741,17272867,16953426,16820093,16792897,16691197,16495466,16311697,16107719,15965977,15943034,15879109,15864136,15652357,15643916,15449618,15304500,15245434,15222785,15064961,15064403,15040026,14616544,12960509,12907656,12896876,12820957,12771184,12709435,12657625,12652527,12619035,12607604,12606307,12590602,12558814,12477932,3459638,2907605,2464748,2261437,2050136,1791840,1658709,1639032,1632509,1612477,1577411,11152476 1578553,1578554,1578555,1578628,1578629,1578630,1578721 7039 NM_003236,NM_001099691,AC005234,AC017084,AF075584,AF075586,AF123239,AF149100,AY325886,CH471053,K03221,M22440,M96868,AF149096,AF149097,AF149098,AK290151,AY548763,BC005308,BT006833,K03222,M31172,X70340 NP_003227,NP_001093161,AAY14793,AAY14705,AAD12238,AAD12239,AAF13491,AAF06728,AAF06729,AAF06730,AAP97822,EAW99810,EAW99811,EAW99812,EAW99813,EAW99814,AAA61158,AAA52530,AAA79958,AAF05089,AAF05090,BAF82840,AAS83396,AAF05091,AAH05308,AAP35479,AAA61159,AAA61157,CAA49806,P01135,Q15578,Q53SK7,Q6QBS1,Q9BS56,Q9UE87,Q9UEI3,Q9UIS1,Q9UIS2,Q9UIS3,Q9UKM1,Q9UKM2,Q9UKM3,Q9UQ91 Hs.170009 GDB:120435 TFGA protein-coding 69095 TGFB1 transforming growth factor, beta 1 TGFB is a multifunctional peptide that controls proliferation, differentiation, and other functions in many cell types. TGFB acts synergistically with TGFA (MIM 190170) in inducing transformation. It also acts as a negative autocrine growth factor. Dysregulation of TGFB activation and signaling may result in apoptosis. Many cells synthesize TGFB and almost all of them have specific receptors for this peptide. TGFB1, TGFB2 (MIM 190220), and TGFB3 (MIM 190230) all function through the same receptor signaling systems.[supplied by OMIM] 1579781,1579756,1579762,1579765,1579766,1579767,1579769,1579770,1579771,1579772,1579773,1579774,1579775,1579776,1331520,1579777,1579778,1579779,1299323,731229,1579872,1579877,1579879,1579931,1579937,734904,737732,737733,1601552,1601579,1601583,1601550,1601560,1331525,737734,737735,1601556,1601559,1601561,1601551,1601553,1580959,1601563,1601581,1601586,1580863,2292211 14727154,14726452,14725686,14722617,14720431,14712482,14707053,14704634,14699019,14697748,14697238,14676209,14675394,14675189,14672557,14667198,14648590,14644155,14643949,14642613,14641541,14637150,14636845,14635011,14634021,14633126,14625191,14614718,14612931,14608199,14607699,14607563,14607332,14604900,14600158,14597484,14596813,14595120,14585325,14583433,14576954,14576166,15824172,15818397,15811853,15803361,15802940,15800982,15799969,15794197,15790343,15788474,15787639,15784411,15778431,15778389,15777850,15773449,15770661,15769917,15767424,15763337,15754021,15753900,15750822,15738684,15735739,15732863,15730046,15723707,15721312,15718915,15716278,15712349,15708894,15705190,15703175,15698546,15694998,15690532,15671065,15665522,15663966,15661045,15654963,15650893,15641096,15637079,15632190,15623763,15623538,15622443,15621151,15613484,15609398,15606694,15604209,15603866,15599946,14566095,12095061,12089714,12085100,12082048,12081894,12081893,12068984,12062452,12061838,12060054,12057905,12055267,12050565,12046078,12041672,12036913,12032592,12021923,12020803,12015308,12009575,12000722,11998866,11992481,11991675,11991670,11981433,11970960,11966931,11934870,11928807,11925630,11924651,11912197,11911944,11908736,17588962,17587163,17580335,17579298,17579118,17574548,17570736,17567933,17562261,17560118,17557799,17557241,17554369,17548703,17545053,17544674,17540773,17530715,17524861,17522998,17520266,17515815,17498265,17486072,17485238,17483238,17476473,17471513,17471240,15955247,15951665,15951295,15946939,15945506,15944607,15943594,15942255,15941974,15941661,15935832,15935652,15932621,15927846,15925543,15917723,15917409,15916738,15913903,15913806,15910294,15905358,15901906,15896309,15895394,15881652,15880049,15879087,15878096,15860935,15856020,15854667,15848527,15848524,15845540,15843517,15842590,15841043,15837559,15834029,15833881,11906646,11906036,11876761,11876742,11867550,11839086,11836565,11830340,11826761,11824477,11810274,11803605,11800227,11796824,11784716,11776328,11771728,11769974,11750277,11746498,11740340,11715070,11694328,11604083,11576951,11568166,11557193,11528523,17368597,17367219,17365852,17361195,17360654,17360530,17359969,17347580,17346099,17341683,17341610,17341608,17338374,17333284,17332318,17327236,17325209,17319955,17314099,17312920,17305717,17303584,17293864,17292826,17290010,17288590,17285762,17277740,17268554,17261759,17261758,17257312,17242066,17237561,17234915,17230494,17220333,17217620,17214746,17213232,17209781,17206322,17205957,17203972,17198275,17198270,17194537,17192829,17187359,17184296,17173255,17164348,17157217,17157157,17151785,17146441,17145371,17145161,17139467,17138053,17137775,17114344,17100549,17097497,17088559,17080483,17076676,17074765,17074098,17072955,17071067,17067743,17059371,17052957,17047091,17044077,17035229,17035001,17032917,17023741,17023672,17021946,17018785,17018616,17018615,17014924,17003485,16998703,16990569,16990280,16989156,16987066,16987065,16980081,16971953,16969385,16966185,16962935,16962335,16951150,16938461,16934609,16933058,16931622,16921482,16920945,16916659,16916603,16904244,16896935,16877343,16875935,16873204,16872485,16849317,16843825,16837650,16835828,16828470,16828225,16824504,16824159,16820871,16820791,16815840,16807529,16804000,16803995,16799085,16798416,16792132,16785237,16780585,16778279,16764598,16754747,16754688,16734562,16734133,16733295,16732186,16730947,16730575,16722148,16720864,16718633,16712948,16704689,16704031,16702209,16698802,16690986,16685022,16677601,16675963,16675485,16671880,16646981,16641085,16638864,16637060,16635548,16635219,16622736,16622033,16621788,16620985,16619184,16619041,16617095,16609882,16571622,16570020,16567828,16564125,16563228,16563223,16552334,16549165,16543493,18216320,18208460,18203080,18202754,18199828,18197538,18191107,18190611,18186562,18174246,18174230,18165865,18163430,18160707,18158121,18156442,18097622,18091351,18082619,18082198,18081437,18079410,18076044,18070591,18058603,18058470,18058229,18055455,18041006,18039529,18036644,18029191,18028462,18024394,18024258,18003620,17990985,17989610,17989584,17988266,17986101,17982242,17975199,17975134,17974504,17974160,17967972,17965799,17961177,17947678,17938236,17928287,17922404,17920062,17916352,17915216,17911416,17906455,17892594,14531804,14531781,14529885,14525983,14514772,14514699,14510802,14507446,14504444,14504277,13679381,13678774,12974899,12960355,12953061,12944979,12943995,12938195,12938093,12917425,12911563,12911534,12909463,12902338,12898374,12894997,12893825,12879228,12879019,12875973,12874450,12859695,12858451,12858019,12857600,12850832,12843182,12838101,12824005,12821938,12817760,12815042,12810668,12802498,12795790,12794244,12787424,12775566,12772773,12758167,12754205,12753290,12751024,12747448,12746254,12743121,12727482,12723985,12707335,12700666,12682078,12675860,12669309,12667558,12654639,12649573,12637138,12630751,12626500,12615364,12607775,12601022,12598898,12595908,14557872,14532743,12595498,12591385,12590978,12589095,12579348,12579267,12572925,12569017,15599395,15599305,15598443,15596839,15593053,15593052,15592292,15574511,15569360,15552843,15546338,15539010,15536170,15529502,15522940,15498766,15498571,15494412,15489334,15488704,15479754,15467747,15458467,17469184,17468136,17459720,17438144,17433803,17428349,17424886,17418594,17418380,17417945,17415413,17409139,17405902,17404043,17401617,17400536,17394006,17392271,17382930,17381064,17376924,17376051,17374177,17373677,17371954,17369289,17369174,15387373,15377500,15373772,15372625,15368517,15367225,15365652,15361357,15361128,15361124,15359164,15354859,15353478,15351436,15342643,15337504,15316224,15308875,15305380,15297631,15294900,15288191,15284289,15271980,15269821,15257453,15248227,15247230,15240008,15231647,15225617,15221033,15220111,15219857,15215809,15214940,15212689,15207246,15203191,15200452,15200451,15194285,15192088,15192047,15191521,15189946,15187109,15187087,15184872,15180953,15178409,15175276,15170937,15170816,15166495,15161830,15159307,15135368,15133032,15133024,15132952,15120189,15114294,15113633,15104684,15102771,15102678,15100460,15100259,15086490,15084245,15068691,15066699,15063762,15057277,15049387,15450129,10513816,15334054,14555988,9639571,14679171,16943770,15702480,14988498,17889927,17889143,17889117,17884818,17882904,17876891,17875924,17875052,17848599,17848193,17823083,17785866,17768377,17768235,17766609,17720884,17714959,17713555,17711410,17707032,17704440,17700165,17692821,17692120,17690329,17690184,17689884,17687390,17680535,17680270,17673695,17671518,17664181,17662305,17657819,17657504,17656680,17656362,17654516,17654453,17653872,17651146,17644809,17641021,3457014,9934696,9865696,11100470,18484655,18431743,18425216,18424453,18421026,18408074,18379050,18375254,18359288,18356176,18349127,18344931,18341540,18337305,18337117,18325393,18321309,18321307,18316602,18316594,18315703,18314484,18312614,18303197,18300128,18300111,18294958,18293167,18292811,18284942,18281501,18275506,18268354,18264937,18256755,18245894,18234825,18219106,18217413,17640324,17638910,17637750,17637743,17635914,17627763,17627086,17626784,17625450,17624411,17623674,17622752,17621264,17620406,17615257,17612762,17605296,17601559,17598964,17597658,17596875,17594488,17591977,16543220,16541418,16540751,16524740,16521228,16504679,16499994,16496359,16495290,16493441,16488890,16484622,16482098,16467160,16461080,16456143,16433832,16428771,16425360,16424284,16423922,16423881,16414983,16413503,16412560,16407286,16403803,16400883,16387590,16387180,16378074,16378062,16378061,16369764,16367920,16350816,16343799,16336267,16335952,16330131,16327802,16324212,16323703,16307809,16301119,16292494,16287542,16285938,16277007,16272332,16270194,16263699,16260615,16259606,16258965,16258727,16253647,16253118,16251192,16245329,16243534,16236363,16223775,16223572,16222707,16219695,16210002,16209640,16207846,16193177,16187311,16187293,16184401,16183136,16179826,16179614,16179583,16162149,16158060,16148664,16146757,16144297,16135988,16135802,16133992,16113310,16111879,16100774,16100012,16098131,16095497,16086840,16082716,16055706,16046504,16046050,16044414,16030091,16029542,16014625,16003239,15982639,15957132,15044491,15044465,15041164,15034927,15034041,15033492,15033015,15030461,15020570,15018667,15009180,15009106,15006917,15003992,15001984,15000149,14999526,14993265,14991065,14988407,14976204,14969768,14872501,14871809,14767644,14760152,14757763,14756669,14755254,14751563,14737114,14732719,12560674,12560323,12559970,12548199,12547711,12540377,12531888,12531696,12531695,12529270,12525765,12515830,12514788,12507818,12500218,12493741,12493411,12491092,12489185,12489179,12485877,12485831,12479636,12478192,12477932,12457461,12454225,12453980,12451269,12441075,12438348,12432546,12431652,12431651,12421823,12420205,12413771,12411321,12410804,12397374,12393612,12393416,12382579,12379307,12376363,12374793,12370804,12370400,12366695,12358852,12352892,12234017,12232842,12223346,12219028,12209716,12207584,12202987,12202478,12202226,12189134,12186868,12182464,12176809,12175481,12174377,12172787,12171249,12170265,12168782,12164325,12163055,12163012,12161428,12161098,12160532,12150293,12140283,12133353,12117671,12107734,12101112,12099698,12097320,11502704,11496247,11483955,11456401,11453244,11436536,11404167,11401606,11391238,11391236,11389394,11374867,11357939,11345594,11316069,11267423,11266928,11266927,11233912,11192323,11176807,11172812,11157754,11062463,11008076,10973241,10843814,10716993,10652271,10631145,10457363,10431160,10383378,10376933,10085302,15247411,16189514,7513640,10930463,7852346,12867422,10025398,9987082,9918798,9895299,9813058,9783545,9670843,9660815,9521216,9434787,9383706,9150447,8679613,8617200,8599089,8568261,8471846,8424943,8424942,8336945,8294518,8264131,8235612,8093006,7935686,7803268,7798269,7695626,7686157,7638106,3861940,3487831,3470709,3459257,3162913,2982829,1550960,1281686,16179804,8811049,7495302,8551249,15857508,10887155 1579781,1579756,1579762,1579765,1579766,1579767,1579769,1579770,1579771,1579772,1579773,1579774,1579775,1579776,1331520,1579777,1579778,1579779,1299323,731229,1579872,1579877,1579879,1579931,1579937,734904,737732,737733,1601552,1601579,1601583,1601550,1601560,1331525,737734,737735,1601556,1601559,1601561,1601551,1601553,1580959,1601563,1601581,1601586,2292211 7040 NM_000660,AC011462,AY059373,AY330201,AY330202,AY576687,AY576688,AY871232,AY871233,AY871234,AY871235,AY871236,AY871237,AY871238,AY871239,AY871240,AY871241,CR592182,CR601792,CR612251,M38449,X02812,AY871242,AY871243,AY871244,AY871245,CH471126,CQ759646,X05839,AK291907,AY820829,BC000125,BC001180,BC022242,BT007245 NP_000651,AAL27646,AAQ18641,AAQ18642,AAT77143,AAT77144,AAX59016,AAX59017,AAX59018,AAX59019,AAX59020,AAX59021,AAX59022,AAX59023,AAX59024,AAP35909,AAA36735,CAA26580,P01137,Q49IK8,Q49IL8,Q5PY19,Q671U8,Q671V1,Q7Z487,Q7Z488,Q86YU2,AAX59025,AAX59026,AAX59027,AAX59028,AAX59029,EAW57032,EAW57033,CAF32686,CAA29283,BAF84596,AAV71148,AAH00125,AAH01180,AAH22242 Hs.645227 GDB:120729 CED|DPD1|TGFB protein-coding 732522 TGFB1I1 transforming growth factor beta 1 induced transcript 1 10075738,15572661,17353931,9422762,7929412,17671518,17508020,17166536,16849583,16713569,16624805,16344560,16141357,15561701,15231748,14755691,14702039,12858356,12631731,12477932,12445807,12426580,12421567,12417722,12400158,12376363,12202987,12177201,12153727,12023963,11937715,11856738,11805099,11792840,11546764,11463817,11313252,11155740,10848625,10604475,10330411,10092676,9858471,9756887,9032249,1716619,16189514 7041 BC001507,BC001830,BC017288,BC032545,CR602627,CR603592,CR604915,CR604999,CR608741,CR608842,CR616164,CR617942,CR618728,CR618748,CR621063,CR624726,DA097743,NM_001042454,NM_015927,AC026471,CH471192,DQ309025,AB007836,AF116343,AK122975 AAH01507,AAH01830,AAH17288,AAH32545,O43294,NP_001035919,NP_057011,EAW52126,EAW52127,EAW52128,EAW52129,EAW52130,ABB96286,BAA24799,AAD22552 Hs.513530 GDB:9836296 ARA55|HIC-5|HIC5|TSC-5 protein-coding 730953 TGFB2 transforming growth factor, beta 2 731229,1579858,1579866,1579868,1579870,1579872,1579879,1579937 16227582,9611771,2119582,15896309,3322813,14679171,15944186,16943770,15955085,12411310,3457014,18223299,18174230,18039789,17960115,17679942,17651146,17611697,17532297,17453002,17431704,17401695,17217916,17201588,17192487,16998703,16891397,16885354,16778279,16608413,16467496,16260601,16210002,15816823,15695166,15489334,15389580,15290353,15247411,15113633,15009106,14510802,14507446,12911534,12802400,12772773,12706107,12607775,12545247,12489185,12477932,12420205,12064833,12062452,12060393,12060054,12021923,12015308,12011061,11991670,11895345,11796824,11795478,11716069,11528528,11488419,11241554,11157754,10861501,10457363,9493905,8106553,8093006,7513640,3476488,3226728,3162414,2850146,1764261,1641027,1631557,15857508,12867422,7852346 731229,1579858,1579866,1579868,1579870,1579872,1579879,1579937 7042 NM_003238,AC096638,AY438979,CH471100,M87843,AB209842,BC096235,BC096236,BC099635,Y00083,BC099636,M19154 NP_003229,AAR05442,EAW93326,EAW93327,AAA61162,BAD93079,AAH96235,AAA50405,CAA68279,P61812,Q4VAV8,Q59EG9,AAH99635,AAA50404 Hs.133379 GDB:120436 MGC116892|TGF-beta2 protein-coding 735686 TGFB3 transforming growth factor, beta 3 625677,1579859,1579864,1579865,1579866,1579879,1579937,1625704,1580863 12489185,12477932,12432546,12410804,12221089,12171249,12168782,12062452,12060054,12021923,11969342,11821050,11776328,11754469,11488419,11384957,11382746,11374028,11341298,11199370,11166150,11157754,10457363,10187774,9872992,9683588,9250163,9140123,8886879,8819159,8106553,8093006,7962292,7951245,7796607,3226728,3208746,1875922,7852346,18039789,18049952,17673689,17671384,17401695,17272867,17225872,16930538,16781676,16778279,16549496,16247549,16210002,16043141,15924806,15896309,15639475,15247411,15155569,15017149,14702039,14659070,12911534,12772773,12733956,12729750,12652527,12651933,12607775,12508121,11850637,7493022,3164476,14679171,3457014,18480962,18293167,18243111,18174230,18156205 625677,1579859,1579864,1579865,1579866,1579879,1579937,1625704 7043 NM_003239,AF107885,AY140241,AY208161,AY386326,AY386327,AY386328,CH471061,M58524,X14885,AK122902,AK313564,BC018503,BT007287,BX417403,CR611616,EF560714,J03241,X14149 NP_003230,AAC79727,AAM96819,AAO13495,AAQ98616,AAQ98617,AAQ98618,EAW81249,AAA59193,CAA33024,BAG36338,AAH18503,AAP35951,ABQ59024,CAA32362,P10600,Q6LDJ6,Q6TV14,Q6TV15,Q6TV16,Q8WV88,AAA61161 Hs.592317 GDB:120437,GDB:371339 ARVD|FLJ16571|TGF-beta3 protein-coding 1351420 TGFBI transforming growth factor, beta-induced, 68kDa This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. 1599387,1599389,1304421,1580863 1388724,8024701,9463327,18332318,18298822,18290950,18259096,18245446,18097563,18078741,18068629,17982422,17982418,17980739,17909299,17893671,17846354,17765440,17653042,17378698,17327467,17317389,17013691,16947382,16900028,16797290,16672769,16670477,16652336,16636649,16541014,16453189,16440005,16434404,16368891,16344560,16329146,16329070,16087849,15885785,15838722,15805105,15790870,15780949,15712349,15623763,15564760,15531312,15489334,15372022,15302666,15223229,15179309,15177960,15111592,15059726,15013897,14978126,14767905,14767644,14702039,14701952,14633628,14604900,14597039,12940514,12911551,12782158,12719415,12704192,12673209,12586172,12499048,12477932,12454095,12400061,12386809,12379307,12270930,12034705,11927442,11923233,11867580,11866539,11741113,11685063,11501939,11413411,11297504,11024425,10967553,10913330,10865320,10837380,10681572,10660331,10425035,10328397,9799082,9780098,9727509,9497262,9373149,9061001,9054935,8136834,8125298,8077289,14612292,7738366,16189514 1599387,1599389,1304421 7045 NM_000358,AC004503,AC005219,AF035626,AF035627,AF035628,AF035629,AY149344,CH471062,AB209598,AK093916,AK094055,AK094581,AK222833,BC000097,BC004972,BC026352,BT009820,CR590452,CR597279,CR600461,CR607603,CR609674,CR619547,CR619677,CR621581,DA051240,M77349 NP_000349,AAC08449,AAC24944,AAB88695,AAB88698,AAB88696,AAB88697,AAN10294,EAW62198,EAW62199,EAW62200,BAD92835,BAD96553,AAH00097,AAH04972,AAH26352,AAP88822,AAA61163,Q15582,Q49AT7,Q53GU8,Q53XM1,Q59F63,Q96IU7,ABM83104,ABW03491 Hs.369397,Hs.645734 GDB:597601 BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1 protein-coding 733386 TGFBR1 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). 1579873,1579874,1579875,1579876,1579878,1579879,737663,1579872,1579927,1579929,1579931,1579937,1580863 12065756,14633705,8242743,14517293,15702480,9865696,11100470,8774881,18316594,18243111,18223258,18202754,18174246,18174230,18097622,17936924,17890272,17848956,17848193,17845732,17705854,17657819,17652900,17607123,17575241,17507611,17365852,17319955,17238135,17203972,17072348,16998703,16980081,16950395,16947635,16928994,16857807,16835936,16806156,16791849,16754747,16596670,16428477,16407286,16314481,16289162,15961557,15955593,15863158,15860866,15833881,15761153,15731757,15661740,15599934,15546867,15505640,15498571,15496141,15465036,15459392,15385056,15382067,15356634,15317461,15305380,15247277,15178549,15177479,15155736,15146427,15102771,15009106,14722617,14718519,14704634,14702039,14597484,14580334,12947057,12873459,12607775,12477932,12446693,12429842,12358857,12202987,12145287,12082094,12060054,12017275,12015308,12000714,11867510,11850637,11820800,11746979,11583628,11438668,11420127,11387212,11356828,11279102,11278302,11278251,11163210,11157754,11102446,10085121,10025408,9892009,9856985,9774674,9748228,9661882,9545258,9525694,9472030,9435577,9417915,9346908,9346894,9335505,9311995,9215638,9136927,9045666,8576253,8555189,8530343,8530052,8521960,8235612,7890683,7774578,7518616,1319842,14657019,15148321,9738003,7791754,11323414,8106553,14612425,7852346,15761148 1579873,1579874,1579875,1579876,1579878,1579879,737663,1579872,1579927,1579929,1579931,1579937 7046 AK002171,AK129793,AL117597,BC038347,BC056247,BC071181,BX648917,CR607288,L11695,NM_004612,NG_007461,AF035670,AF054598,AL162427,AY497473,CH471105,DQ383416,DQ383417,DQ383418,DQ383419,DQ383420,DQ383421,DQ383422,DQ383423,DQ383424,AJ420419,AJ619019,AJ619020 AAH71181,AAA16073,P36897,Q5T7S2,Q6IR47,Q706C0,Q706C1,NP_004603,AAD02042,AAC08998,CAI17140,AAR32097,EAW58905,EAW58906,ABD46753,CAF02096,CAF02097 Hs.494622 GDB:224895 AAT5|ACVRLK4|ALK-5|ALK5|LDS1A|LDS2A|SKR4|TGFR-1 transforming growth factor, beta receptor 1 protein-coding 734332 TGFBR2 transforming growth factor, beta receptor II (70/80kDa) This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. 1579875,1579879,1579925,1299231,1579872,1579927,1579928,1579929,1579930,1579931,1579934,1579936,1579937,1579939,1579940,1579941,1579933,1580863,1601591,1579923,1601598,1601599,1601623,1601116,1601593,1579926,1601601,1601627,1601600,1580959 12479849,12477932,12429842,12421567,12215842,12202987,12174910,12145287,12121646,12077447,12060054,12017275,12000714,11850637,11820800,11781097,11777969,11744689,11741970,11483955,11387212,11382746,11323414,11279102,11278302,11278251,11212236,11163210,11158177,11157754,10789724,10716993,8242742,7761852,1310899,9865696,11100470,8774881,18382895,18339844,18334936,18243111,18202754,18174230,18097622,18084123,17950544,17875924,17845732,17692120,17680270,17676583,17676485,17653092,17652900,17637743,17634290,17566598,17562261,17560608,17470566,17456004,17427197,17418587,17365852,17339425,17330129,17319955,17270239,17194537,17187359,17146441,17117417,17112860,17107667,17086361,17081983,16928994,16885183,16849474,16835936,16824508,16733295,16673206,16549496,16530041,16428382,16388503,16380996,16283890,16108056,16027248,15976377,15942678,15861007,15856015,15824172,15811425,15761153,15731757,15647279,15522964,15356634,15350299,15340161,15305380,15235604,15146427,15102771,15017149,15009106,14976186,14760070,14727154,14704634,14601051,14582709,12970754,12939140,12915548,12873459,12840808,12825850,12821554,12736050,12729750,12607775,12515396,10207840,9927040,9926943,9872992,9856985,9590282,9435577,9169454,9155023,9045666,8973329,8947046,8840968,8812462,8576253,8555189,8388126,8317497,8106553,8020936,7959019,7935686,7890683,7632217,7566156,1525823,1319842,14612425,7852346,15735734,10508522 1579875,1579879,1579925,1299231,1579872,1579927,1579928,1579929,1579930,1579931,1579934,1579936,1579937,1579939,1579940,1579941,1579933,1601591,1579923,1601598,1601599,1601623,1601116,1601593,1579926,1601601,1601627,1601600,1580959 7048 NM_003242,NG_007490,AC096921,AY675319,CH471055,DQ377553,DQ377554,DQ377555,DQ377556,DQ377557,DQ377558,DQ377559,U52246,U69152,NM_001024847,AJ786388,AL554950,BC040499,BI598781,BM457423,CA437785,CB988859,CD521609,D28131,DB493906,M85079,AI279872 NP_001020018,NP_003233,AAT70724,EAW64410,EAW64411,EAW64412,ABG65632,AAB17553,AAB40916,CAH10151,BAA05673,AAA61164,P37173,Q6A176,AAI52841 Hs.82028,Hs.604277 GDB:224909 AAT3|FAA3|LDS1B|LDS2B|MFS2|RIIC|TAAD2|TGFR-2|TGFbeta-RII transforming growth factor, beta receptor ii protein-coding 736539 TGFBR3 transforming growth factor, beta receptor III Transforming growth factor (TGF)-beta is a multifunctional cytokine that modulates several tissue development and repair processes, including cell differentiation, cell cycle progression, cellular migration, adhesion, and extracellular matrix production. Three TGF-beta forms are encoded by separate genes: TGFB1 (MIM 190180), TGFB2 (MIM 190220), and TGFB3 (MIM 190230). The diverse effects of TGF-beta are mediated by the TGF-beta receptors and cell surface-binding proteins. Three TGF-beta receptors exist: type I (TGFBR1; MIM 190181), type II (TFGBR2; MIM 190182), and type III (TGFBR3). TGFBR3 is a glycoprotein that binds TGFB and exists in both a membrane-bound and a soluble form (Johnson et al., 1995 [PubMed 8530052]).[supplied by OMIM] 1579872,1579931,1579943,1579933,1579954,1580863 1333192,10092230,18315732,18184661,18174230,18097622,17999987,17408468,17272393,17192875,17084394,16886151,16710414,16621788,16613887,15745937,15489334,15009106,14704634,14585090,14557487,12970754,12958365,12873459,12782414,12651901,12568406,12477932,12385827,12358857,11382746,11323414,11157754,10944857,10746731,10207840,9373149,8530052,8125298,8106553,7935686,1657407,1657406,1319842,11546783,7852346 1579872,1579931,1579943,1579933,1579954 7049 NM_003243,AC099334,AC114486,AL162263,AL390780,AL445992,AY796304,CH471097,AJ251961,AK225799,AK291345,BC099914,BC126116,BX090279,CA406273,L07594 NP_003234,AAV50003,EAW73112,EAW73113,CAB64374,BAF84034,AAI26117,AAA67061,Q03167 Hs.482390 GDB:136737 BGCAN|betaglycan transforming growth factor, beta receptor 3 protein-coding 1321869 TGFBRAP1 transforming growth factor, beta receptor associated protein 1 1580863 11278302,9545258,16886895,14702039,12477932,10051563,16189514 9392 NM_004257,AC012360,CH471127,AF022795,AK021697,AK291382,BC020548 NP_004248,AAY15010,EAX01764,EAX01765,AAC16903,BAF84071,AAH20548,O60466,Q8WUH2,Q9H6G8,ABM82485,ABW03418 Hs.446350 TRAP-1|TRAP1 protein-coding 1353233 TGFBRE transforming growth factor, beta-1 response element 8327510,11216674 8167 GDB:250852 1321463 TGIF1 TGFB-induced factor homeobox 1 The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described. 1599407,1599409,1580863 16134180,15489334,15223781,15221788,12601022,12593671,12522553,12477932,11810641,11748221,11682623,11571228,11416139,11371641,11226163,10995736,10835638,10199400,7485158,3192211,17353931,10764806,8537382,18172074,17440433,17378698,17158784,17048038,16962354,16916642,16323008,16189514,16169070 1599407,1599409 7050 NM_173207,NM_173209,NM_173208,NM_003244,NM_170695,NM_173210,NM_173211,NG_007447,AP001025,CH471113,AF179900,AI813434,AK026766,AK291112,BC000814,BC031268,BE296707,BE906361,BF244060,BQ437864,BU657748,CR450333,CR606247,CR614605,D82120,X89750,NM_174886 Q15583,ABM82489,ABM85677,NP_777480,NP_775299,NP_775301,NP_775300,NP_003235,NP_733796,NP_775302,NP_775303,EAX01670,EAX01671,EAX01672,AAF81643,BAF83801,AAH00814,AAH31268,CAG29329,CAA61897 Hs.373550 GDB:9787150 HPE4|MGC39747|MGC5066|TGIF tgfb-induced factor (tale family homeobox) protein-coding 1603585 TGIF1P1 TGFB-induced factor homeobox 1 pseudogene 1 126052 NG_002440,AC007785 pseudo 1344249 TGIF2 TGFB-induced factor homeobox 2 The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor. The encoded protein appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and overexpressed in some ovarian cancers, and mutations in this gene can cause holoprosencephaly. 1580863 11006116,16344560,15489334,14702039,12477932,12417041,11780052,11427533,9110174,8619474 60436 Q9GZN2 NM_021809,AL050318,CH471077,CQ783690,AB042646,AF055012,AK074802,AK074829,BC006549,BC012816,DA438831 NP_068581,CAB75368,EAW76127,EAW76128,CAF86813,BAB16424,BAC11216,AAH06549,AAH12816,Q9GZN2,ABM84326,ABM87719 Hs.632264 GDB:11508014 tgfb-induced factor 2 (tale family homeobox) protein-coding 1351295 TGIF2LX TGFB-induced factor homeobox 2-like, X-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. 1580863 15772651,15489334,12815422,12477932,12226713 90316 NM_138960,AJ427749,AL590041,AF497480,BC029920,BC101144,BC101145,BC117398,BC117400 NP_620410,CAD20750,CAI41575,AAM18073,AAI01145,AAI01146,AAI17399,AAI17401,Q3ZCM9,Q8IUE1 Hs.592220 GDB:11508016 MGC34726|TGIFLX tgfb-induced factor 2-like, x-linked protein-coding 1342872 TGIF2LY TGFB-induced factor homeobox 2-like, Y-linked This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. 1580863 12815422,12477932,12226713 90655 NM_139214,AC019058,AJ427750,AF332223,AK292609,BC101143,BC101146,BC128604 NP_631960,CAD20751,AAK13475,BAF85298,AAI28605,Q8IUE0 Hs.112148 GDB:11508018 TGIFLY tgfb-induced factor 2-like, y-linked protein-coding 1605001 TGIF2P1 TGFB-induced factor homeobox 2 pseudogene 1 126826 XR_018145 Hs.676118 pseudo 731987 TGM1 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). 1599417,1580863 7824952,7773290,1704039,1673840,1670769,1381356,1351505,1350092,1348508,1346394,7688299,7906657,16604191,16530159,16344560,16133457,15846304,15805105,15715085,15665393,15489334,15313180,15304086,12928434,12721789,12654631,12542526,12477932,12397374,12100179,12054678,11511296,11390390,11298529,11251583,10914678,10405818,10196183,9887377,9863908,9523691,9516464,9446578,9384573,9359043,9346937,7592852,9722562,10066784,10510474,7961731,14645372,8824274,1979171,17762854,17672918,17024410,9326318 1599417 7051 NM_000359,NG_007150,AL096870,CH471078,D10353,DQ640500,M83230,M98447,AK291350,AK315819,AK315828,AK315843,BC034699,D90287,DA437895,M55183,M62925,X57974 NP_000350,EAW66047,BAA34203,ABF70204,AAA61156,AAA96667,BAF84039,BAF98710,BAF98719,BAF98734,AAH34699,BAA14329,AAA59474,AAA61166,CAA41040,P22735,Q197M4,ABM82411,ABW03400 Hs.508950 GDB:125299 ICR2|KTG|LI|LI1|TGASE|TGK transglutaminase 1 protein-coding 732487 TGM2 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. 1579955,1579992,1579993,1579994,1579987,634393,1579996,1579997,1579998,1580015,1580017,1302539,1580863,1300048 10556977,16338459,16313886,16301118,16300411,16285941,16153302,16146777,16146727,16146723,15886239,15752564,15746535,15715085,15691824,15592455,15585642,15556610,15489334,15471861,15460447,15362860,15272014,15231748,15220331,15201665,15199098,15069073,10521459,10518533,10100610,9973324,9512491,9442029,9315663,9252372,9060478,8611626,7912692,7730416,1670773,1670766,1358880,1353685,7688299,7906657,16189514,15001552,10611475,10561600,14985437,14752105,14747475,14631123,12960346,12853457,12743114,12698366,12528814,12527383,12477932,12438565,12410804,12387450,12368090,12205028,12093810,12061780,11867764,11867708,11829448,11780052,11762979,11742196,11686302,11442349,11390390,11350930,11258932,11013236,10963790,10958788,10922377,10684262,18312620,18235007,18174247,18092889,18052077,17939176,17924658,17890909,17762854,17711877,17671187,17625111,17609251,17476115,17440814,17403029,17374730,17314516,17228174,17189522,17171363,17043648,16951195,16914140,16826431,16757564,16720350,16522628,16449978,16439457,16407273,16382148,16368554,16368540 1579955,1579992,1579993,1579994,1579987,634393,1579996,1579997,1579998,1580015,1580017,1302539 7052 AY675221,BC003551,BC073946,BQ430537,BQ938957,BX471706,CA444769,CR597023,CR601566,CR601662,CR602180,CR604340,CR607275,CR608227,CR614057,NM_198951,AL031651,CH471077,DQ523828,AA493184,AF311286,AK058031,AK126508,AK291714,AL512703,NM_004613,CR614524,CR621392,CR621826,CR624322,CR624841,CR625858,CR626497,M55153,M98478,M98479,S81734 AAT79353,AAH03551,AAH73946,NP_004604,NP_945189,CAB66115,CAM27227,CAM27228,EAW76040,EAW76041,EAW76042,EAW76043,EAW76044,ABF47109,AAK15272,BAC86573,BAF84403,CAC21649,AAA63261,AAA36739,AAB36379,P21980,Q6B838,Q6DKH2,Q6ZTL3,Q9BXQ0,Q9H035 Hs.517033 GDB:128013 G-ALPHA-h|GNAH|TG2|TGC tissue-type transglutaminase protein-coding 1343492 TGM3 transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. 1580863 14645372,8099584,15193648,24643,12850301,5038456,17380116,17205060,16804985,16786148,16257432,15715085,15489334,15335352,15304086,15084592,14647409,14646218,12874078,12679341,12477932,11901200,11780052,10777582,10521460,9452468,8889549,8626812,7913719,7851911,7688299,7906657 7053 AL031678,CH471133,EF102483,AI216028,AK290324,AK291351,AL602787,AL691671,AW265475,BC109075,BC109076,BG675531,BX284087,L10386,N23065,NM_003245 NP_003236,CAB37633,EAX10601,EAX10602,ABK41960,BAF83013,BAF84040,AAI09076,AAI09077,AAA61155,Q08188 Hs.2022 GDB:128014 MGC126249|MGC126250|TGE protein-coding 1343082 TGM4 transglutaminase 4 (prostate) 1580863 7916568,17552366,16344560,15489334,12477932,9721214,8645175,7665178,7688299,7906657 7047 NM_003241,AC098649,CH471055,AK125536,BC007003,BF678064,DA870110,L34840,U31905,U79008,Y09559 NP_003232,EAW64727,EAW64728,AAH07003,AAB95430,AAC50516,AAB38324,P49221,Q9UBL5,ABM87504,ABW03895,CAA70753 Hs.438265 GDB:451945 TGP|hTGP protein-coding 1318367 TGM5 transglutaminase 5 9452468,16380904,16117804,15489334,15290349,15290346,12477932,12434312,12230511,11390390,7688299,7906657 9333 NM_004245,NM_201631,AC009852,AC068724,AF206502,AF206503,AF206504,AF206505,AF206506,AF206507,AF206508,AF206509,AF206510,CH471125,AF035960,AF035961,BC039086,BC119009,BC122859 NP_004236,NP_963925,AAF23981,EAW92593,EAW92594,EAW92595,EAW92596,AAC02978,AAC02979,AAI19010,AAI22860,O43548,Q0II16 Hs.129719 GDB:9956013 MGC141907|TGM6|TGMX|TGX protein-coding 1349690 TGM6 transglutaminase 6 1580863 11390390,7688299,7906657 343641 NM_198994,AL031678,AL049650,CH471133,AF540969,AF540970 NP_945345,EAX10600,AAQ10751,AAQ10752,O95932,AAI66680 Hs.452039 TGM3L|TGY|dJ734P14.3 protein-coding 1316891 TGM7 transglutaminase 7 Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM] 1580863 11390390,7688299,7906657 116179 NM_052955,AC009852,CH471125,AF363393,BX112796 NP_443187,EAW92597,AAK97573,Q96PF1,AAI48503,AAI53106 Hs.164661 TGMZ protein-coding 1353046 TGOLN1 trans-golgi network protein 1 369008 AK008520 1351226 TGOLN2 trans-golgi network protein 2 1580863 11208159,10514494,9794796,9373149,8907712,8125298,7569928,16189514,9422759,15916959,14743217,12477932,12107412 10618 AC093162,NM_006464,AF029316,BX640818,CH471053,AA814306,AF027515,AF027516,AK025557,AK025805,AK126465,AK222829,AK223063,AL133437,AL710137,AW630597,BC008461,BC028219,BC035237,BC046196,BC062782,BF515968,BQ018277,BQ223385,BQ226188,BU192601,BX640733,BX640868,CB216875,CD370267,CD518854,CD671318,CR600590,CR601093,CR618666,U62390,X94333 AAY24095,NP_006455,AAB96906,AAB96907,AAB96908,EAW99535,EAW99536,EAW99537,EAW99538,EAW99539,EAW99540,AAC39541,AAC39542,BAC86559,BAD96549,BAD96783,AAH08461,AAH28219,CAE45926,AAC39539,CAA64002,O43493,ABW03892,ABW03576 Hs.593382 GDB:9958034 MGC14722|TGN38|TGN46|TGN48|TGN51|TTGN2 protein-coding 1320573 TGS1 trimethylguanosine synthase homolog (S. cerevisiae) 15130578,18039666,16344560,16341674,15489334,14702039,12943661,12776181,12477932,12200376,12189208,12097419,12032086,11983179,11912212,11517327,15574333 96764 NM_024831,AC018607,AC100817,CH471068,AF286340,AF432215,AK026648,AK055178,AL832426,AY028423,AY534911,BC011999,BM853546,BX648548,CR594349,DB082992 NP_079107,EAW86761,EAW86762,EAW86763,AAK83025,AAL99922,BAB15516,AAK27730,AAT02709,AAH11999,Q96RS0,AAI60105 Hs.335068 GDB:11504529 DKFZp762A163|FLJ22995|NCOA6IP|PIMT|PIPMT nuclear receptor coactivator 6 interacting protein protein-coding 733897 TH tyrosine hydroxylase The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. 1580026,1580032,1580034,1580036,1580037,1580038,1580048,1580050,737737,1601629,1601631,1601630,1580863,1601632,1601634,1300048 18058633,18023073,17972051,17948905,17869399,17784840,17698732,17698383,17466074,17391063,17329957,17195153,17194738,17135716,17018139,16887311,16764822,16741719,16731528,16644734,16643317,16636198,16516890,16447258,16445854,16360899,16344718,16252282,16251897,16139102,15953356,15898085,15744773,15736042,15735319,15722952,15468323,15303408,15135070,15077008,14749349,14739699,14651989,14651963,12891655,12782971,12759555,12631248,9920892,7715703,18270970,18208403,18181650,18085551,12610512,1973163,1347949,33381,12576454,12571119,12527603,12493595,12477932,12457228,12428766,12358785,12113410,11943812,11834745,11738155,11359875,11326301,11246459,10660577,10391209,9754624,9703425,9613851,8889548,8817341,8528210,7814018,7789962,6150037,6137760,2905129,2902075,2896667,2892893,2892528,2888085,2887169,2882428,2872999 1580026,1580032,1580034,1580036,1580037,1580038,1580048,1580050,737737,1601629,1601631,1601630,1601632,1601634 7054 NM_199292,NM_000360,NM_199293,NG_007114,AC132217,AF536811,AY211521,CH471158,D00269,M18116,M23597,M24791,AA447751,AY144494,AY144495,BC104967,BM718799,DQ677336,DQ677337,M17589,M20911,M20912,M24790,X05290,Y00414 NP_954986,NP_000351,NP_954987,AAN73289,AAN73290,AAP43671,EAX02490,EAX02491,EAX02492,EAX02493,EAX02494,BAA25094,BAA25095,BAA25096,BAA25097,AAA77649,AAA77650,AAA77651,AAA61170,AAA61171,AAA61172,AAA61173,AAN39538,AAN39539,AAI04968,ABG73364,ABG73365,AAA61179,AAA61167,AAA61168,AAA61174,CAA28908,CAA68472,O43816,P07101,P78428,Q0PWM2,Q0PWM3,Q15587,Q16846,Q2M3B4,Q6XS77,Q7KZ36,Q7KZ39,Q7KZ44,Q7KZ38,Q8IZE1,Q8IZE2,Q8IZQ6,Q8IZQ7,Q9NP14,Q9UQ57 Hs.435609 GDB:119612 TYH protein-coding 1346942 TH1L TH1-like (Drosophila) The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. 12620389,12676794,17621989,17499042,17131388,16169070,15489334,15231748,14702039,14684750,12612062,12477932,11952167,11780052,11112772,11042152,11030415,10199401,8889548,16838299,16189514,17353931 51497 AA831111,AF161479,AJ238374,AJ238375,AJ238376,AJ238379,AK001316,AK023310,AK023927,AK127431,BC014952,BI459250,BM974193,BX647417,CR592487,CR615187,CR615510,CR616536,CR616677,NM_198976,AL109840,CH471077 EAW75451,EAW75452,EAW75453,EAW75454,EAW75455,EAW75456,AAF29094,CAB64337,CAB64373,CAB64339,BAA91618,BAB14519,BAB14729,BAC86976,AAH14952,Q8IXH7,NP_945327,CAC09368 Hs.517148 GDB:11503258 HSPC130|NELF-C|NELF-D|TH1 protein-coding 1602161 THA1P threonine aldolase 1 pseudogene 15757516 390816 XM_001132286,AC087645,XM_001127683,XM_001718558 XP_001718610,XP_001132286,XP_001127683 GLY1 protein-coding 1323240 THADA thyroid adenoma associated 17123335,16344560,12955091,12477932,12063398,11214970 63892 NM_022065,NM_001083953,AC010883,AC092615,AC092838,AC104138,AB051554,AF323176,AK025530,AK126004,AK126824,AK290023,AL832141,AY149629,AY149630,AY149631,AY149632,AY149633,BC007743,BC025773,BC037990,BC105976,BX641038,BX648155,DA332700 Q8IY32,Q8TAU8,Q96I88,Q9BZF7,Q9C096,Q9H6U0,Q9H6W7,NP_071348,NP_001077422,AAY14994,AAX93152,AAX93154,BAB21858,AAK11318,BAB15162,BAC86389,BAC86709,BAF82712,AAO46785,AAO46786,AAO46787,AAO46788,AAO46789,AAH07743,AAH25773,AAH37990,AAI05977,Q3KR04,Q53RC6,Q53TB2,Q6YHU2,Q6YHU3,Q6YHU4,Q6YHU5,Q6YHU6,Q6ZT85,Q6ZU38 Hs.369592 FLJ21877|FLJ44016|FLJ44876|FLJ77530|GITA|KIAA1767 protein-coding 1316870 THAP1 THAP domain containing, apoptosis associated protein 1 The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 18073205,16713569,16189514,15863623,15489334,14702039,12717420,12575992,12477932,9373149,8125298 55145 NM_199003,NM_018105,AC087533,CH471080,AI475984,AK001339,AK223231,AL832077,BC021721,BG497522,CD639319,CD709111,CR457256,CR607366 NP_945354,NP_060575,EAW63205,EAW63206,BAA91635,BAD96951,AAH21721,CAG33537,Q9NVV9 Hs.7432 FLJ10477|MGC33014 protein-coding 1352281 THAP10 THAP domain containing 10 1580863 16189514,15489334,12575992,12477932 56906 AL360202,BC027857,BC072414,CR619402,NM_020147,AC090868,CH471082 EAW77863,CAB96109,AAH27857,AAH72414,Q9P2Z0,ABM81853,ABM85015,ABW03329,NP_064532 Hs.591123 protein-coding 1321069 THAP11 THAP domain containing 11 The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. 1580863 15489334,12575992,12477932,9853615,8325628 57215 NM_020457,AC040162,CH471092,AB015338,AK289367,BC012182,BI261822,BQ898449,EF036502,L10378,L10379 NP_065190,EAW83180,BAA34796,BAF82056,AAH12182,ABO65088,Q96EK4,ABM83526,ABM86757 Hs.632200 CTG-B43a|CTG-B45d|HRIHFB2206 protein-coding 1349583 THAP2 THAP domain containing, apoptosis associated protein 2 11256614,16381901,15489336,15489334,12575992,12477932,11230166,11076863 83591 NM_031435,AC073612,CH471054,AL136607,BC008358,CR533485,CR603130 NP_113623,EAW97265,CAB66542,AAH08358,CAG38516,Q0JU50,Q6FIE1,Q9H0W7,CAL37961 Hs.245798 DKFZP564I0422 protein-coding 1351040 THAP3 THAP domain containing, apoptosis associated protein 3 1580863 16710414,15489334,14702039,12575992,12477932 90326 NM_138350,AL031447,CH471130,AF086370,AK096217,BC005114,BC022081,BC092427,CR600833,CR601567,CR609298,CR620139 NP_612359,CAI19468,CAI19469,CAI19470,EAW71562,EAW71563,EAW71564,EAW71565,EAW71566,EAW71567,EAW71568,EAW71569,BAC04727,AAH05114,AAH92427,Q8WTV1,ABM82596,ABM85782 Hs.702257 MGC33488 protein-coding 1342863 THAP4 THAP domain containing 4 1580863 15815621,15498874,15489334,14702039,12575992,12477932,10810093,9373149,8125298 51078 NM_015963,AC133528,AC133781,CH471063,AF132970,AF258556,AK001216,AK225608,BC000247,BC000767,BC001842,BC009439,BC069235,BC071896,BC094822 NP_057047,AAY14918,EAW71276,EAW71277,AAD27745,AAG23759,BAA91560,AAH00247,AAH00767,AAH01842,AAH09439,AAH69235,AAH71896,AAH94822,Q8WY91,Q9BQ29 Hs.435759,Hs.645463 CGI-36 protein-coding 1353274 THAP5 THAP domain containing 5 12690205,12575992,12477932 168451 NM_182529,AC005058,CH236947,CH471070,AL833137,BC040353,BC053634 NP_872335,EAL24383,EAW83436,EAW83437,AAH53634,Q7Z6K1 Hs.650237 DKFZp313O1132 protein-coding 1320801 THAP6 THAP domain containing 6 1580863 11256614,16381901,16344560,15489336,15489334,14702039,12575992,12477932,11230166,11076863 152815 NM_144721,AC096759,CH471057,AK056959,AL833350,BC022989,BX647579,DA995979 NP_653322,EAX05730,EAX05731,EAX05732,EAX05733,EAX05734,EAX05735,EAX05736,CAI46111,AAH22989,CAI46093,Q5HYJ7,Q5JPC6,Q8TBB0,CAL37868,CAL38579 Hs.479971 MGC30052 protein-coding 1317614 THAP7 THAP domain containing 7 1580863 16341674,16195249,16189514,15561719,15489334,15461802,12575992,12477932 80764 NM_030573,NM_001008695,AC002472,CH471176,AK024609,AK025906,BC004346,BE264280,BI223500,BM790105,CR456343,CR594608,CR603475,CR605890,CR611968,CR612368,CR614644,CR620039 NP_085050,NP_001008695,EAX02918,EAX02919,EAX02920,EAX02921,AAH04346,CAG30229,Q9BT49,CAK54485,CAK54784 Hs.512756 MGC10963 protein-coding 1343379 THAP8 THAP domain containing 8 1580863 15489334,14702039,12575992,12477932 199745 NM_152658,AC002116,AD000813,AK057453,AK093048,BC046207,BC072416,CR590484,CR605666 NP_689871,BAB71493,BAC04034,AAH46207,AAH72416,Q0P5Z7,Q8NA92 Hs.350209 FLJ32891 protein-coding 1349156 THAP9 THAP domain containing 9 16344560,15616143,14702039,12575992,12477932,9373149,8125298 79725 NM_024672,AC021105,AJ717666,AK026973,AK091412,AK225333,BC131722,BX648134,DA317935 NP_078948,CAG30691,BAB15609,AAI31723,Q9H5L6 Hs.582050 FLJ23320|FLJ34093 protein-coding 1353555 THAS thoracoabdominal syndrome 2139758 7055 GDB:128158 1349382 THBD thrombomodulin The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. 1580052,1580053,1580060,1580061,634506,1601638,1601651,1601636,1601645,1601646,1601652,1601640,1601639,1601641,1601654,1580863 12135317,12068020,12066950,12031986,11986219,11864708,11864703,11858479,11848462,11846431,11780052,11734675,11642722,11552992,11257274,11245641,11231927,11106601,10066849,9843165,9395524,9367781,9198186,9157575,9045633,8745396,8663147,8661740,8528067,8390446,8244401,8216207,7947766,7811989,7615164,7559494,3001144,2839283,2836377,2820710,2819876,17099210,17099142,17067436,17049585,17003923,16507317,16456088,16418283,16307806,16153429,16136486,16126727,16043642,15897668,15842356,15837080,15714116,15705565,15677570,15613027,15582990,15574195,15489334,15488871,15183044,15178554,15135268,15099291,15080580,14987915,14983241,14769148,14715348,14702039,14556624,14523329,12951323,12920633,12918732,12878585,12871600,12871544,12862205,12831611,12709053,12588872,12576329,12477932,12407115,12297717,12210386,12204814,12139752,10336638,14691232,9252393,2822087,2538457,18204921,18035074,17982464,17895503,17875054,17849052,17848551,17702963,17677000,17287633,17278618,17275499,17195062,2544585,1667949 1580052,1580053,1580060,1580061,634506,1601638,1601651,1601636,1601645,1601646,1601652,1601640,1601639,1601641,1601654 7056 NM_000361,AF495471,AL049651,CH471133,D00210,J02973,AI285986,AK091934,AK123557,BC035602,BC053357,BG771668,M16552,X05495 NP_000352,AAM03232,CAB51954,EAX10172,BAA00149,AAA61175,AAH35602,AAH53357,AAB59508,CAA29045,P07204 Hs.2030 GDB:119613 CD141|THRM|TM protein-coding 1345942 THBS1 thrombospondin 1 The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. 1580062,1580063,1580064,1580065,1580066,1580863 8751720,9304800,6338048,14718574,18222489,18208671,18178577,18096704,18089612,18057090,18035072,18021253,17917789,17879962,17709727,17706282,17638877,17620335,17596205,17572512,17507668,17487836,17413041,17374440,17363705,17289869,17198740,17175378,17106256,16962673,16951312,16882710,16835379,16740002,16732887,16684956,16650813,16618977,16495290,16478297,16465407,16388804,16344560,16335952,16270194,16263699,16166434,16150726,16148025,16147889,16141331,16100012,16037098,16006654,15945504,15927849,15908066,15907858,15890262,15855645,15833768,15820829,15817447,15792551,15730804,15665307,15634883,15583827,15522326,15503824,15456750,15356163,15347840,15342643,15292271,15217952,15166498,15140581,15113588,15037654,15034804,15014436,15007078,14991768,14683523,14583433,14568985,14561896,14559817,14557872,14555767,12964017,12947001,12927044,12909644,12902472,12878157,12824298,12782324,12759541,12718556,12679131,12676581,12676576,12658547,12643280,12609716,12598312,12553016,12530526,12482844,12477932,12450399,12444143,12443715,12391027,12358136,12220191,12147682,12147243,12054567,11986954,11980922,11964147,11920574,11882904,11820799,11801541,11773026,11606713,11358957,11094060,11067851,11023976,10922378,10900205,10772961,10749676,10487979,10398144,10397731,9867861,9840442,9657149,9478926,9459346,9334164,9328841,9169439,9045712,8550562,8463250,8408036,7775583,7521539,6693501,6438154,3571333,3461443,3402455,3030396,2918029,2745554,2544587,2522013,2478219,2435757,2430973,2341158,2335352,1550960,1350660,9419208,10698186,15700281,15696166 1580062,1580063,1580064,1580065,1580066 7057 NM_003246,AC037198,CH471125,J04835,U12471,AB209912,AI290070,AK291639,AU117102,AU279999,BC028145,BG251169,CA411820,M14326,M25631,M99425,X04665,X14787 NP_003237,EAW92379,EAW92380,EAW92381,AAA61178,AAA21127,BAD93149,BAF84328,AAH28145,AAA61237,AAA36741,AAB59366,CAA28370,CAA32889,P07996,Q59E99,Q7KYY3 Hs.164226 GDB:120438 THBS|TSP|TSP1 protein-coding 1322186 THBS2 thrombospondin 2 The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. 1580069,1580071,1580863 1459996,6338048,18455130,18178577,18089612,17638877,17620335,17334638,17202846,17182969,16246837,16186819,15347840,15121769,14561659,12909644,12861025,12824879,12732502,12482844,12477932,12358136,12058057,11980922,11943589,11590138,11387198,11147677,10900205,10491303,10329465,9442117,9249061,8406456,1559694 1580069,1580071 7058 NM_003247,BX322234,CH471051,U79410,AA853383,AA853654,AI130835,AK292429,AL603377,BC146676,BC150175,BX390187,BX641023,CA411880,L12350,M81339 NP_003238,CAI23645,CAI23646,EAW47453,EAW47454,EAW47455,BAF85118,AAI46677,AAI50176,CAE46014,AAA03703,P35442,Q5RI52,Q5RI53,Q6MZL6 Hs.371147 GDB:128789 TSP2 protein-coding 1314326 THBS3 thrombospondin 3 The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. 1580863 8288588,8468055,6338048,17022822,15489334,12477932,11943589,11137453,10527891,10329465,9373149,9331372,8125298,7759526,7558000,1601886,1459996 7059 CR590329,L38969,NM_000157,NM_001005741,NM_001005742,NM_001005749,NM_001005750,AF023268,AL713999,CH471121,AK074796,AK223278,BC018786,BC113846,BC113847,BX490216,NM_007112 AAC41762,P49746,Q2HIZ0,Q2HIZ1,Q4VX26,Q53FK6,NP_009043,AAC51818,CAI95084,EAW53109,EAW53110,BAD96998,AAH18786,AAI13847,AAI13848 Hs.169875,Hs.282997 GDB:409953 MGC119564|MGC119565|TSP3 protein-coding 735475 THBS4 thrombospondin 4 The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. Studies of the rat counterpart suggest that this protein may be involved in local signaling in the developing and adult nervous system. 1580073,1580863 7852353,7490284,6338048,18178577,17709521,17202846,17182969,16923428,16246837,16148025,15897551,15489334,15474480,15131549,15121769,14674882,12482844,12477932,11967953,11137453,10501972,8432726,8350346 1580073 7060 NM_003248,AC012636,AC112184,AY566253,CH471084,BC050456,Z19585 NP_003239,AAS66982,EAW95841,AAH50456,CAA79635,P35443 Hs.211426 GDB:463011 TSP4 protein-coding 1350927 THC2 thrombocytopenia 2 (autosomal dominant) 10521306 23672 GDB:10794765 1319470 THEG Theg homolog (mouse) This gene is specifically expressed in the nucleus of haploid male germ cells. It encodes a protein that may be involved in the regulation of germ cell nuclear functions. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580863 10747865,16189514,12748127,12477932,11173852 51298 NM_199202,NM_016585,AC016588,CH471242,AB033129,AF268610,BC028574 NP_954672,NP_057669,EAW61203,EAW61204,EAW61205,BAA93718,AAG17663,AAH28574,Q9P2T0,ABM81821,ABM84975 Hs.250002 GDB:11511075 MGC26138 protein-coding 1315172 THEM2 thioesterase superfamily member 2 The protein encoded by this gene is a member of the thioesterase superfamily. 1580863 18095154,17704541,17045243,16934754,15489334,14702039,14574404,12477932,10931946 55856 AL031775,CH471087,CS072377,NM_018473,AF155649,AF220186,AF274952,AK000508,BC000894,BG568305,CR610760 CAD92509,EAW55460,CAI93515,NP_060943,AAF67006,AAF67651,AAK07529,BAA91215,AAH00894,Q9NPJ3 Hs.9676 HT012|MGC4961|PNAS-27 protein-coding 1603281 THEM4 thioesterase superfamily member 4 Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. 17615157,16341674,15026474,14702039,12477932,11598301,8889548 117145 NM_053055,AL450992,CH471121,AF075119,AJ313515,AK024219,AK096211,AK289494,BC017339,BC065277,BE349541,BM688785,BM787449,BQ774123 NP_444283,CAI12162,EAW53400,EAW53401,EAW53402,CAC86384,BAF82183,AAH65277,Q5T1C6 Hs.164070 CTMP|MGC29636 protein-coding 1601923 THEM5 thioesterase superfamily member 5 14702039,12477932 284486 NM_182578,AL450992,CH471121,AK095283,BC101610,BC112239 NP_872384,CAI12160,CAI12161,EAW53404,BAC04521,AAI01611,AAI12240,Q8N1Q8 Hs.132648 FLJ37964|MGC126659|MGC138444 protein-coding 1605015 THEX1 three prime histone mRNA exonuclease 1 14536070,17135487,16912046,15489334,15451662,14961122,12477932,16189514 90459 NM_153332,AC087579,AC087763,CH471157,AK226180,AK291062,AL137679,AV709794,AY310909,BC035279 NP_699163,EAW65568,EAW65569,EAW65570,BAF83751,CAB70871,AAQ21219,AAH35279,Q8IV48,ABM81767,ABM84922 Hs.20000 3'HEXO|MGC35395 protein-coding 1603030 THG1L tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) 11256614,15459185,14702039,12477932,11230166,9373149,8125298,16189514 54974 AK223119,AL136669,AY463216,BC001523,BC001852,BC023521,CR533503,CR626757,NM_017872,AC026407,CH471062,AF086486,AK000553,AK021663,AK023355 BAD96839,CAB66604,AAS21134,AAH01523,AAH01852,AAH23521,CAG38534,Q9H8R6,Q9NWX6,NP_060342,EAW61590,EAW61591,BAA91249,BAB13870,BAB14540 Hs.353090 FLJ11601|FLJ20546|ICF45 protein-coding 1349166 THM thymoma 7063 GDB:439378 1343746 THNSL1 threonine synthase-like 1 (S. cerevisiae) 737633,1580863 17034760,16344560,15489334,15164054,14702039,12477932 737633 79896 NM_024838,AL512598,CH471072,AK025655,AK094362,AK125249,BC016697,BC035132,BX647989,CR457346,CR615274,DA496769 NP_079114,CAH70791,EAW86113,EAW86114,BAB15205,BAC04338,AAH16697,AAH35132,CAG33627,Q8IYQ7,Q8N9J5 Hs.645274 FLJ22002|TSH1 threonine synthase-like 1 (bacterial) protein-coding 1605368 THNSL2 threonine synthase-like 2 (S. cerevisiae) 17034760,16413481,16344560,14702039,12477932 55258 DB024675,NM_018271,AC092836,CH471215,AK001778,AK095303,AK289486,AL832746,BC035315,BC047758,BC050699,BC064423,CR613903,CR620866,DA044670 Q86YJ6,NP_060741,AAX88906,EAW77072,EAW77073,EAW77074,BAA91904,BAF82175,AAH35315,AAH47758,AAH64423 Hs.516179 FLJ10916|THS2|TSH2 protein-coding 1318555 THOC1 THO complex 1 HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] 7525595,17699767,17638875,17081983,16344560,15998806,15870275,15489334,15358532,15302935,14962675,14702039,12477932,11979277,9373149,8125298,16189514 9984 NM_005131,AP000845,CH471113,AK055354,AK123530,AK225067,BC010381,CR591724,CR596078,CR597833,CR600665,DA902294,L36529,AK225709,AY573302,AY573303 NP_005122,EAX01731,EAX01732,EAX01733,EAX01734,AAH10381,AAA53571,Q64I72,Q64I73,Q96FV9,ABM83694,ABW03548,AAT81408,AAT81409 Hs.699172 HPR1|P84|P84N5 protein-coding 1353819 THOC2 THO complex 2 THO2 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), HPR1 (MIM 606930), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] 1580863 17081983,16964243,16344560,15998806,15302935,14702039,12477932,11979277,9771704 57187 NM_020449,AL023575,AL030996,CH471107,Z82901,AF441770,AK001758,AK023659,AW206982,BC054050,BC063692,BC072400,BF212673,BX648654,NM_001081550,DA504931 NP_001075019,NP_065182,CAO03594,CAI42271,CAI42273,CAO03526,EAX11863,AAM28436,BAB14630,AAH63692,AAH72400,CAE46196,Q5H9E3,Q6IN92,Q6P441,Q8NI27 Hs.592243 CXorf3|THO2|dJ506G2.1 protein-coding 1323248 THOC3 THO complex 3 TEX1 is part of the TREX (transcription/export) complex, which includes THO2 (MIM 300395), HPR1 (MIM 606930), ALY (MIM 604171), and UAP56 (MIM 606390).[supplied by OMIM] 1580863 15998806,15489334,12477932,11979277,16189514 84321 NM_032361,XM_001133439,AC138965,CH878413,AW511349,AW628745,BC006849,BC066325,BC068499,CR590694,CR592119,CR594661,CR596017,CR599865,CR600043,CR601880,CR602551,CR606947,CR609328,CR609602,CR610202,CR611879,CR614228,CR618762,CR618886,CR619188,CR619858,CR622623,CR624821 Q96J01,NP_115737,XP_001133439,EAW50534,AAH06849,AAH66325,AAH68499,Q6NZ53 Hs.484227,Hs.535769,Hs.548868 MGC5469|TEX1 protein-coding 1322669 THOC4 THO complex 4 The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. 1580863 15047853,12226669,18243119,17229714,15998806,15782174,15489334,12944400,12477932,12438613,12176931,11991638,11979277,11707413,11675789,11546873,11118221,11032328,10488337,9952027,9731529,9119228 10189 NM_005782,AC137723,CH471099,AF047002,AF086513,BC052302 NP_005773,EAW89699,AAD09608,AAH52302,Q86V81 Hs.534385 ALY|BEF protein-coding 1349222 THOC5 THO complex 5 17081983,15489334,15461802,15221008,14702039,12477932,11979277,10597251,10231032,9373149,8889548,8242058,8125298,16009131 8563 NM_003678,NM_001002877,NM_001002879,NM_001002878,AC005529,CH471095,L18972,AB023200,AJ006069,AK025385,AK098709,AK122673,AK225169,AK225752,BC003615,BQ184247,BU187531,BX381026,BX400943,BX404329,CN387648,CR456542,CR599155,CR604650,CR621300,CR623927 NP_003669,NP_001002877,NP_001002879,NP_001002878,EAW59808,EAW59811,EAW59812,AAC26837,BAA76827,CAA06841,AAH03615,CAG30428,Q13769,CAK54573,CAK54872 Hs.75361 C22orf19|Fmip|PK1.3 protein-coding 1601739 THOC6 THO complex 6 homolog (Drosophila) 15489334,12477932 79228 NM_024339,AC108134,CH471112,AK075330,AL832548,BC003118,BC050674,CR593456,CR619161,CR624641 NP_077315,EAW85421,EAW85422,EAW85423,BAC11552,AAH03118,AAH50674,Q86W42 Hs.412304 MGC2655|WDR58 protein-coding 1602206 THOC7 THO complex 7 homolog (Drosophila) 12951069,12584197,12477932,9921901,9373149,8125298 80145 NM_025075,AC104162,CH471055,AF104914,AI391685,AI784549,AK027098,AK225110,BC020599,BC065012,CR457373 NP_079351,EAW65418,EAW65419,EAW65420,EAW65421,BAB15656,AAH20599,AAH65012,CAG33654,Q6I9Y2 Hs.288151 FLJ23445|NIF3L1BP1 protein-coding 68460 THOP1 thimet oligopeptidase 1 1580863 10415366,9790774,8824811,8373360,8286339,16189514,7639763,15231747,17251185,15489334,15376229,15328361,15057824,14998993,14702039,12648459,12502762,12477932,11479311,10993116,10969067,10541437,10504294 7064 NM_003249,AC006538,CH471139,AK093392,BC000135,BC000583,BC002391,BC013878,BC067281,CR601659,CR602683,U29366,Z50115 NP_003240,AAD13118,EAW69364,EAW69365,AAH00135,AAH00583,AAH02391,AAH13878,AAA82607,CAA90477,P52888,Q96CV8,Q9BW75,ABW03685 Hs.78769 GDB:595011 EP24.15|MEPD_HUMAN|MP78|TOP protein-coding 1351706 THPO thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor) Megakaryocytopoiesis is the cellular development process that leads to platelet production. The protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. 730050,1580082,1580083,1580086,1580087,1580088,1580089,1580090,1580091,1580092,1601655,1601656,1580863 8202159,18090929,18006466,17827152,17763151,17637498,17468237,17379761,17158158,16888093,16759877,16454716,16317100,16305336,15863506,15781331,15705785,15647951,15572213,15307100,15282677,15254242,15239259,14966463,14769915,14689068,14670916,12879435,12829024,12799280,12799278,12581491,12495897,12487786,12477932,12468916,12430879,12389630,12381927,12359731,12187073,12135673,12041668,11983110,11961237,11960394,11913997,11860444,11847009,11756417,11750880,11257273,11012214,10583217,14995067,10387974,9766811,9694695,9425899,8942648,8537317,8202160,8202154,8020099,7926023,7849319,7822271,7809166 730050,1580082,1580083,1580086,1580087,1580088,1580089,1580090,1580091,1580092,1601655,1601656 7066 D32047,L33410,L36052,U11025,U59493,U59494,U59495,NM_000460,AC078797,CH471052,D32046,L36051,S76771,U17071,AB014681,AB014682,AB014683,AB102890,AB102894,BC130322 BAA21930,AAA59857,AAC37566,AAA50553,AAB03392,AAB03393,AAB03394,P40225,Q5FBX4,Q5FBX8,NP_000451,EAW78243,EAW78244,EAW78245,BAA06807,AAC37568,AAB33390,AAA74083,BAA34930,BAA34931,BAA34932,BAD89419,BAD89423,AAI30323 Hs.1166 GDB:374007 MGC163194|MGDF|MKCSF|ML|MPLLG|TPO protein-coding 736295 THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 1580113,1580114,1580116,1580863 8806651,2879242,18052923,17911173,17577579,17560756,17220280,17065567,16781732,15802373,15767343,15757863,15674337,15489334,15388935,15249124,14729678,14614212,14576168,12878587,12874288,12871948,12805224,12477932,12388540,12371907,12231529,12082618,12048199,11889175,11861164,11726557,11266503,10902817,10610177,10567404,10508171,10480874,10235266,10207062,10198638,10022432,9717844,9680361,9653119,9628876,9627117,9440806,9268132,9267036,9115274,8710870,8616895,8537364,8127707,8036737,7776974,7609079,7566127,6589608,6323162,3684612,3672126,3458521,3357890,2710139,2539258,2464749,1850510,1537303,1517709,1331778,1307263,16189514,11158331,10847592,10965896,15808511,10866662,16799563 1580113,1580114,1580116 7067 NM_199334,NM_003250,AC068669,AC102799,CH471152,M24748,X55074,AB209346,AF522368,AK290071,AK290530,BC000261,BC002728,BC008851,BC035137,BQ224043,CR541915,CR596083,CR602782,J03239,M24899,M24900,X55005,Y00479 NP_955366,NP_003241,EAW60632,EAW60633,EAW60634,AAA66021,CAA38899,CAB57886,BAD92583,AAM77692,BAF82760,BAF83219,AAH00261,AAH02728,AAH08851,AAH35137,CAG46713,AAA61176,AAA35783,AAA52333,AAA52334,CAA38749,CAA68539,P10827,Q59FW3,Q6FH41,Q6LDR0,ABM83438,ABM86652 Hs.724 GDB:120730 AR7|EAR7|ERB-T-1|ERBA|ERBA1|MGC000261|MGC43240|NR1A1|THRA1|THRA2|c-ERBA-1 thyroid hormone receptor alpha protein-coding 1314565 THRAP3 thyroid hormone receptor associated protein 3 1580863 10198638,10235266,17353931,12218053,12037571,10235267,17081983,16964243,16710414,16565220,15489334,15324660,15302935,15144186,14559993,12477932,12130544,11827452,8710870 9967 NM_005119,AC114484,AL360074,AL591845,AI754117,AK025735,BC002501,BC010997,BC019076,BC037554,BC054046,BC065519,BC112330,BC112350,BG572651,CR614227,CH471059,AF117756 NP_005110,CAH71859,AAD22034,AAH02501,AAH10997,AAH19076,AAH37554,AAH54046,AAH65519,AAI12331,AAI12351,Q05D20,Q6P0P7,Q6PJV4,Q7Z5U1,Q9Y2W1,ABZ92284,EAX07379,EAX07380 Hs.585396 FLJ22082|MGC133082|MGC133083|TRAP150 protein-coding 734423 THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Defects in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several transcript variants have been observed for this gene, but the full-length nature of only one has been determined so far. 1601659,1580863 12048199,12039952,12006711,11971969,11929097,11889175,11861164,11818500,11751919,11739747,11518802,11258898,10944117,10866662,10822129,10786636,10737800,10713182,10660344,10625678,10567404,10508171,7870181,15100213,15625236,1618799,18363280,17911173,17827792,17596672,17560756,17418816,17293442,17260956,17177139,16781732,16231318,16099238,15987841,15886199,15867011,15674337,15598685,15489334,15319359,15249124,15186611,15105435,15080770,14985366,14767065,14761960,14702039,14684607,14673100,12843201,12788902,12668276,12554782,12477932,12382103,10207062,9795230,9794455,9765220,9751500,9717844,9405624,9368056,9325263,9267036,9171239,8889584,8664910,8514853,8381821,8175986,7833659,7776974,7746322,3034496,2879243,2550353,2510172,2254444,2153155,1973914,1846005,1661299,1657975,1653889,1648451,1619012,10454579,1587388,1563081,1517709,1425440,1324420,1314846,11158331,10823961,11050077,10809664,12612084,15308690,10454563,9346901 1601659 7068 AY286467,AY286468,AY286469,AY286470,AY286471,BC028910,BC106929,BC106930,BF854291,BQ879477,BX489919,M26747,X04707,X74497,NM_000461,AC012087,AC093927,AC098971,AC099054,AC112217,CH471055,AI003028,AK095776,AK096628,AK096885,AK098084,AK124042,AV747599,AY286465,AY286466 AAQ23706,AAQ23707,AAQ23708,AAQ23709,AAQ23710,AAI06930,AAI06931,AAA35677,CAA28412,CAA52606,P10828,ABZ92193,AAQ23705,NP_000452,EAW64345,EAW64346,EAW64347,EAW64348,EAW64349,EAW64350,AAQ23704 Hs.187861,Hs.610189 GDB:120731 ERBA-BETA|ERBA2|GRTH|MGC126109|MGC126110|NR1A2|THR1|THRB1|THRB2 thyroid hormone receptor beta protein-coding 734265 THRSP thyroid hormone responsive (SPOT14 homolog, rat) The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. 1580863 9003802,17418816,15489334,12960053,12477932,9777755,9618526,9389499,9371405,9186528,9027365,16189514 7069 NM_003251,AP003032,CH471076,Y08409,BC031989,BG674197,CB122257 NP_003242,EAW75045,CAA69685,AAH31989,Q92748,ABZ92543 Hs.591969 GDB:5446138 MGC21659|S14|SPOT14 thyroid hormone responsive protein protein-coding 1315930 THSD1 thrombospondin, type I, domain containing 1 The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in thrombospondin, a number of proteins involved in the complement pathway, as well as extracellular matrix proteins. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580863 17047544,15489334,15371459,15057823,14702039,12975309,12477932,7687569 55901 NM_199263,NM_018676,AL359513,CH471274,AB044385,AK096289,AY358149,BC063842,CA446845,CR597536,CR616305 NP_954872,NP_061146,CAH71657,EAW55891,EAW55892,EAW55893,EAW55894,EAW55896,BAA96553,AAQ88516,AAH63842,Q9NS62 Hs.325667 MGC74971|TMTSP|UNQ3010 protein-coding 1351777 THSD1P thrombospondin, type I, domain containing 1 pseudogene 374500 NR_002816,AL139082,AL158066,AK027536,BX648914 Hs.553878 pseudo 1603577 THSD3 thrombospondin, type I, domain containing 3 The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Three alternatively spliced transcript variants encoding distinct isoforms have been observed. 16303743,15194193,14702039,12477932,7687569 145501 BX248280,BX248770,BX248771,CR591527,CR593679,CR597238,CR601544,CR604661,CR606304,CR606820,CR609209,CR615195,CR618365,CR621416,CR749863,R93324,NM_199296,NM_199265,AF111168,CH471061,AJ583024,AK056709,AK075445,AK291600,BC033140,BC101019,BC101020,BC101021,BC101022,BX248277,NM_182509 CAD62608,CAD66577,CAD66578,CAH18707,Q6H9L7,Q86TQ6,NP_872315,NP_954993,NP_954874,AAD09622,EAW81293,EAW81294,EAW81295,EAW81296,CAE47313,BAC11626,BAF84289,AAH33140,AAI01020,AAI01021,AAI01022,AAI01023,CAD62605 Hs.29742 DKFZp686E0215|FLJ32147|MGC119416|TAIL1 protein-coding 1605622 THSD4 thrombospondin, type I, domain containing 4 18488137,14702039,12975309,12477932 79875 NM_024817,AC015711,AC026636,AC064799,AC068181,AC104938,AC104943,AC105132,AC108861,CH471082,AK023772,AK130734,AK131551,AY358143,BC140868,BX641106,BX648716,BX648747,CR622400 NP_079093,EAW77873,EAW77874,EAW77875,BAB14673,BAD18685,AAQ88510,AAI40869,CAE46049,Q6ZMP0,Q96H81 Hs.387057 FLJ13710|FVSY9334|PRO34005 protein-coding 1602056 THSD7A thrombospondin, type I, domain containing 7A 18488137,14702039,12477932,12168954,10231032,7566098 221981 NM_015204,AC004141,AC004160,AC004614,AC010908,AC073109,CH236948,AA297188,AA995609,AB023177,AK001884,AK092252,BC016980,CR592356 NP_056019,BAA76804,Q9UPZ6 Hs.120855,Hs.648482 KIAA0960 protein-coding 1606777 THSD7B thrombospondin, type I, domain containing 7B 15815621,12477932,11214970 80731 NM_001080427,AC011231,AC012000,AC016679,AC017082,AC019067,AB051466,BC019344,BC033125 NP_001073896,BAB21770,AAH19344,AAH33125,Q8WUV0,Q9C0I4 Hs.68533 KIAA1679 protein-coding 1344933 THTPA thiamine triphosphatase Thiamine triphosphatase (THTPA) catalyzes the hydrolysis of thiamine triphosphate (THTP) to thiamine diphosphate (THDP), which is the major cellular form of thiamine (vitamin B1) (Lakaye et al., 2002 [PubMed 11827967]).[supplied by OMIM] 1580863 11827967,17213182,16344560,15489334,15342556,15109578,14702039,12508121,12477932 79178 NM_024328,NM_001126339,NR_023314,AL135999,CH471078,AF432862,AK057691,AK098604,BC002984,BI522644,BP358780,BU535676,BX161435,CR595329,CR615822,CR620260,CR626464,DB257923,DT220066 NP_077304,NP_001119811,EAW66140,EAW66141,AAM22403,BAB71546,AAH02984,CAD61907,Q9BU02 Hs.655179 GDB:11510246 MGC2652|THTP|THTPASE protein-coding 1318865 THUMPD1 THUMP domain containing 1 17081983,15489334,14702039,12477932,10493829 55623 O60362,Q6MZT3,Q9NXG2 NM_017736,AC004381,CH471228,AK000281,BC000448,BX640898 NP_060206,AAC31666,EAW66830,EAW66831,EAW66832,BAA91050,AAH00448,CAE45945,O60362,Q6MZT3,Q9NXG2 Hs.460232 DKFZp686C1054 protein-coding 1315745 THUMPD2 THUMP domain containing 2 1580863 15489334,14702039,12477932,12063391,9373149,8125298 80745 NM_025264,AC007246,AC007253,AF380576,CH471053,AF380577,AF380578,AF380579,AK057801,AK093580,AK226034,AK292002,AL832115,BC004163,BC013299 NP_079540,AAX93065,AAY14769,AAL26317,AAL26318,EAX00339,EAX00340,EAX00341,EAX00342,AAL18604,AAL18605,AAL18606,BAB71581,BAF84691,AAH04163,AAH13299,Q53TT8,Q53TV0,Q969Z2,Q9BTF0 Hs.468254 C2orf8|MGC2454 protein-coding 1348857 THUMPD3 THUMP domain containing 3 737633,1580863 15231747,16344560,15489334,14702039,12477932 737633 25917 NM_015453,NM_001114092,AC018506,AC026191,CH471055,AK001680,AK023263,AL080228,AL117483,BC001622,BC010421,CR603369,CR615742,DA713744 NP_056268,NP_001107564,EAW63954,EAW63955,EAW63956,EAW63957,EAW63958,EAW63959,BAA91832,BAB14495,CAB55956,AAH01622,AAH10421,Q9BV44 Hs.443081 DKFZP434F091 protein-coding 735861 THY1 Thy-1 cell surface antigen 1580863 16381901,16374458,16007174,15897908,15850796,15489336,15489334,15218185,15104276,14702039,14507638,12781446,12477932,12074634,11860231,11485909,11230166,11076863,10944468,10708443,8752941,7683034,7479964,6130472,3917857,2884261,2864690,1351058,1347022,16189514,15004192,7513706,11256614,2864289,15093746,18242515,17884967,17007050,16531284 7070 AP003396,NM_006288,CH471065,EF445035,M11749,AB209209,AF261093,AK057865,AK090644,AK090996,AK094374,AL161958,BC065559,CR591012,CR591889,CR591952,CR595502,CR598177,CR600564,CR601651,CR601828,CR602361,CR602362,CR604314,CR605324,CR608140,CR608854,CR609185,CR610225,CR610364,CR612047,CR612556,CR613179,CR614097,CR614649,CR616764,CR617654,CR619576,CR620144,CR620763,CR620874,CR621600,CR622729,CR622970,CR624668,CR626049,S59749,CR593312,CR593600 NP_006279,EAW67488,EAW67489,EAW67490,ACA06081,ACA06082,AAA61180,BAD92446,AAG13904,CAB82306,AAH65559,AAB26353,P04216,Q0JTS0,Q59GA0,Q9HBB0,CAL37910,CAL38092,ABM85937,ABM85939,ABW03761 Hs.653181 GDB:119614 CD90|FLJ33325 thymus cell antigen 1, theta protein-coding 1606014 THYN1 thymocyte nuclear protein 1 This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. 14601557,15939300,15489334,14580360,12477932,12384300,12107411,11042152,8889548 29087 NM_014174,NM_199297,NM_199298,NM_001037304,NM_001037305,AP000859,CH471065,AF182413,BC006978,BC093074,BQ640137,BQ959408,BU658940,BU685681,BU934600,CR608028,AF059619,AF087886,AF161493 NP_054893,NP_954994,NP_954995,NP_001032381,NP_001032382,EAW67828,EAW67829,AAF29108,AAG14949,AAH06978,AAH93074,Q9P016,EAW67830,EAW67831,EAW67832,AAG43118,AAP97185 Hs.13645 HSPC144|MDS012|MGC12187|MY105|THY28|THY28KD protein-coding 1313955 TIA1 TIA1 cytotoxic granule-associated RNA binding protein The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. 1580863 1934064,17711853,17599736,17580305,17493234,17488725,17135269,16820934,16227602,16094384,15280467,14966131,12949814,12885872,12855701,12641788,12486009,12477932,11106748,10599307,8576255,8176212,7544399,2104899,16189514 7072 AB209211,NM_022173,AC016700,CH471053,S70114,BC015944,CR597363,M77142,NM_022037 Q59G98,Q96B58,BAD92448,NP_071320,NP_071505,AAX93193,EAW99823,EAW99824,EAW99825,EAW99826,EAW99827,AAD14053,AAH15944,P31483,Q53SS9 Hs.516075 GDB:679353 protein-coding 1347074 TIAF1 TGFB1-induced anti-apoptotic factor 1 1580863 9918798,17081983,15835906,15491607,15489334,14965474,14702039,14676191,12829915,12761286,12477932,10733938,9039502,14743216 9220 NM_004740,AC024619,CH471159,AF105277,AK054958,AK126861,BC047669,BC058075,BC131561 NP_004731,EAW51180,AAD04172,AAH47669,AAH58075,AAI31562,O95411 Hs.462590 GDB:9785228 MAJN|MYO18A|MYSPDZ|SPR210 protein-coding 1345557 TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1 The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. 1580863 1326761,9207209,18201561,17869012,17682065,17512901,17488725,17486099,16890199,16581801,16537914,16243297,16191398,16091628,15592455,15514971,15304326,15280467,14736875,14702039,12917321,12855701,12533540,12477932,12426321,12414941,12356730,11514562,10700014,8576255,7533298 7073 NM_001033925,NM_003252,AC012468,CH471066,AA972022,AB209260,AK125264,AK290695,AK290984,AK291239,AL833106,AW129760,AY633610,BC030025,BC128140,BC128141,CR609669,CR621940,D64015,M96954 NP_001029097,NP_003243,EAW49385,EAW49386,EAW49387,EAW49388,BAD92497,BAF83384,BAF83673,BAF83928,AAV33303,AAH30025,BAA21559,AAA36384,O15187,Q01085,Q2TSD2,Q49AS9,Q59G49 Hs.701975 GDB:679350 MGC33401|TCBP|TIAR protein-coding 1316657 TIAM1 T-cell lymphoma invasion and metastasis 1 1580863 10835422,18006851,17702746,17376711,17219408,17132223,17086355,17003780,16195373,16192287,15899863,15723052,15655826,15340013,15324660,15295645,15242348,14988728,14702039,12810717,12531897,12477932,12446731,12376551,12134164,12024021,11595749,11274357,11130063,10893266,10830953,10636882,10212259,9128250,8619474,8595894,7753201,7736788,7731688,15721239 7074 NM_003253,AP000246,AP000247,AP000248,AP000249,AP000250,AP000251,AP000563,CH471079,AB209101,AK093621,AK124647,BC117192,BC117196,CR597039,CR621473,U16296,U90902,X86351 NP_003244,EAX09895,BAD92338,AAI17193,AAI17197,AAA98443,Q13009,Q59GK8 Hs.517228 GDB:386213 FLJ36302 protein-coding 1345903 TIAM2 T-cell lymphoma invasion and metastasis 2 This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. 1580863 15342556,12477932,11900975,10512681,10364228 26230 NM_012454,NM_001010927,AL139101,AL355343,AL596202,CH471051,AF120323,AF120324,AF195656,AK123859,AK125459,AL122086,BC022469,BC066979,BP199501 NP_036586,NP_001010927,CAI20508,CAH73978,CAI14404,EAW47692,EAW47693,AAF05900,AAF05901,AAF03902,BAC86170,CAB59259,AAH66979,Q59EY7,Q5SX05,Q5VYA4,Q5VYA5,Q8IVF5,Q9UJV7 Hs.586279 GDB:10795857 FLJ41865|STEF protein-coding 1603893 TICAM1 toll-like receptor adaptor molecule 1 NM_014261.1 was permanently suppressed because currently there is insufficient support for the transcript and the protein. 12761501,12609980,12692549,12855817,14556004,15064760,17982077,16964262,16306936,16153868,16052631,15940673,15814722,15767257,15611223,15474016,15251447,14982987,14960149,14739303,14530355,14519765,14517278,12721283,12539043,12477932,12471095,9110174,8619474 148022 NM_182919,AC027319,CQ871232,AB086380,AB093555,AB097023,AF070530,AF492646,BC009860,BC035331,CR592986 NP_891549,CAH56797,BAC55579,BAC44839,BAC77376,AAC28630,AAO85488,AAH09860,Q8IUC6 Hs.29344 MGC35334|PRVTIRB|TICAM-1|TRIF protein-coding 1317929 TICAM2 toll-like receptor adaptor molecule 2 TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM] 1580863 12721283,12761501,17372010,16603631,14556004,14519765,14517278,12477932,10810093 353376 NM_021649,AC010226,CH471086,AB091054,AB097022,AB109098,AY232653,AY275836,AY304581,AY304582,AY304583,AY304584,BC109265,BC109266 NP_067681,EAW48960,BAC98397,BAC77375,BAC98399,AAO74498,AAP81748,AAQ97430,AAQ97431,AAQ97432,AAQ97433,AAI09266,AAI09267,Q6JUT2,Q86XR7 Hs.705455 MGC129876|MGC129877|TICAM-2|TIRAP3|TIRP|TRAM protein-coding 1346429 TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1 1312667,7596437,17786322,17728252,17724803,15489334,15340161,12477932,12115483,11920509,11866538,11865050,10995770,10949653,10474040,10430078,9373149,8547681,8125298,7655012,16189514 7075 NM_005424,AC093420,AL139289,CH471059,CS305264,CS322899,S79347,AF217976,AK225560,AL833389,BC038239,CR601214,X60957 NP_005415,EAX07106,EAX07107,CAK49654,CAK96151,AAD14299,AAG17219,AAH38239,CAA43290,P35590,Q6LD63,Q9HBS4 Hs.78824 JTK14|TIE protein-coding 1606192 TIFA TRAF-interacting protein with forkhead-associated domain 16643855,16189514,15492226,12761501,12566447,12477932,11798190,8889548,1179819 92610 NM_052864,AC109347,CH471057,AB062110,AB097011,AB097038,AK292900,BC008294,BC014259,BM680110,BM718895,CA772080,CR599623,CR623539 NP_443096,AAY40963,EAX06273,BAB86902,BAC77364,BAC77391,BAF85589,AAH08294,AAH14259,Q96CG3,ABM84607,ABM87121 Hs.310640 MGC20791|T2BP|T6BP|TIFAA protein-coding 2291818 TIFAB TRAF-interacting protein with forkhead-associated domain, family member B 15047173,14702039 497189 NM_001099221,AC022092,AB161513,BX119085 NP_001092691,BAD89018,Q6ZNK6 Hs.552091 FLJ00292 protein-coding 1344912 TIGD1 tigger transposable element derived 1 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 1580863 15815621,15489334,14702039,12477932,8917322,8643651 200765 NM_145702,AC092165,CH471063,U49973,AK056329,BC035143,BC063500 NP_663748,AAY24104,EAW71006,AAB61714,BAB71153,AAH35143,AAH63500,Q13537,Q96MW7 Hs.211823 GDB:11510248 EEYORE protein-coding 1351821 TIGD1L tigger transposable element derived 1-like 414771 AL137624 bCX111D4.7|bPG70P20.2|bQB10J12.1 protein-coding 1348664 TIGD2 tigger transposable element derived 2 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 15815621,15342556,8917322,8889548,8643651 166815 NM_145715,AC104785,CH471057,AK027653,AL833679,BP334478,BU742379,CB130942 NP_663761,AAY40951,EAX06031,Q4W5G0 Hs.58924 GDB:11510250 DKFZp667D1322 protein-coding 1313398 TIGD3 tigger transposable element derived 3 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 15489334,12477932,8889548 220359 NM_145719,AC000353,AP000944,CH471076,AL558462,BC074862,BU741546,CR599655,DR002049 NP_663771,EAW74378,AAH74862,Q6B0B8 Hs.632121 GDB:11510252 protein-coding 1314017 TIGD4 tigger transposable element derived 4 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 1580863 14702039,15489334,12477932 201798 NM_145720,AC106882,CH471056,AK058054,BC037869 NP_663772,EAX04973,BAB71642,AAH37869,Q8IY51 Hs.301243 GDB:11510254 MGC43837 protein-coding 1323107 TIGD5 tigger transposable element derived 5 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 15489334,14702039,12477932,9373149 84948 NM_032862,AC067930,CH471162,AK027832,AK223583,BC032632,BC069229 NP_116251,EAW82226,BAB55398,BAD97303,Q6NT83,AAH32632,AAH69229,Q53EQ6 Hs.71574 GDB:11510256 FLJ14926|MGC44883 protein-coding 1343289 TIGD6 tigger transposable element derived 6 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 1580863 16381901,15489334,14702039,12477932,11230166,11076863,15489336 81789 NM_030953,AC011406,CH471062,AK056604,AK092978,AK096325,AL136539,BC117249,CR533559,CR604620 NP_112215,EAW61753,BAB71230,CAB66474,AAI17250,CAG38590,Q0JS81,Q17RP2,CAL38633 Hs.169333 GDB:11510258 DKFZp761E2110 protein-coding 1346517 TIGD7 tigger transposable element derived 7 The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. 15489334,15487591,14702039,12477932 91151 NM_033208,AC004232,AF251050,AI925903,BC069623,BC069632 NP_149985,AAK34940,AAH69623,AAH69632,Q6NT04 Hs.708399,Hs.708397 GDB:11510260 Sancho protein-coding 1353666 TIMD4 T-cell immunoglobulin and mucin domain containing 4 737633,1580863 18294362,18083575,18082433,17439824,17407086,16940744,15489334,12477932 737633 91937 NM_138379,AC008491,AC026777,CH471062,AK131025,BC008988,CR603034 NP_612388,EAW61617,AAH08988,Q96H15 Hs.334907 FLJ27515|SMUCKLER|TIM4 protein-coding 731567 TIMELESS timeless homolog (Drosophila) 9856466,9856465,17102137,18228528,17909269,17296725,17141802,17116885,17081983,16964243,16507006,15798197,15565336,15489334,15302935,15300647,14985107,14702039,14637143,12875843,12477932,11382904,10428031,9891984 8914 NM_003920,AC024884,CH471054,AB015597,AF098162,AK000721,AK022702,BC031514,BC039842,BC050557,BX640990,CR596590,CR624744 NP_003911,EAW96939,BAA36499,AAC80011,AAH39842,AAH50557,CAE45996,Q0P668,Q6MZN3,Q9UNS1 Hs.118631 GDB:9865728 FLJ12640|FLJ20714|TIM|TIM1|hTIM protein-coding 734114 TIMM10 translocase of inner mitochondrial membrane 10 homolog (yeast) TIMM10 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 10552927,16669873,16387659,15489334,14726512,12882976,12477932,12138093,11489896,10611480,9430585 26519 NM_012456,AP002893,CH471076,AF150089,AF152354,AI498204,AK289751,BC032133,CB106298 NP_036588,EAW73753,AAD39995,AAF15104,BAF82440,AAH32133,P62072 Hs.235750 GDB:10795863 TIM10|TIM10A protein-coding 1352849 TIMM13 translocase of inner mitochondrial membrane 13 homolog (yeast) This gene encodes a translocase with similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm and into the mitochondrial inner membrane. The encoded protein and the TIMM8a protein form a 70 kDa complex in the intermembrane space. This gene is in a head-to-tail orientation with the gene for lamin B2. 1580863 17353931,10552927,15489334,15254020,12477932,12221072,12191765,12185844,12154367,11875042,11798021,11489896,11450972,11101512,10611480 26517 NM_012458,AC011522,CH471139,AF144700,AF152352,AK024764,BC008607,BI908100,CR608783,CR610182,CR614952,CR621909 NP_036590,EAW69380,EAW69381,AAD39951,AAF15102,AAH08607,Q9Y5L4,ABM82681,ABM85863 Hs.75056 GDB:10795866 TIM13|TIM13B|TIMM13A|TIMM13B|ppv1 protein-coding 733790 TIMM17A translocase of inner mitochondrial membrane 17 homolog A (yeast) 737677,1580863 10339406,15489334,14702039,12477932,12119107,10393182,8893850,16189514 737677 10440 AC099676,BN000001,CH471067,AF106622,AK023063,BC000294,BC004439,BC007106,BC009784,BC013823,BC015098,BC016817,BC020833,NM_006335,CR619422,CR622416,CR622946,X97544 NP_006326,CAD29856,EAW91383,EAW91384,EAW91385,AAD19596,AAH00294,AAH04439,AAH07106,AAH09784,AAH15098,AAH16817,AAH20833,CAA66146,Q7RU05,Q99595 Hs.20716 GDB:9957012 TIM17|TIM17A protein-coding 1350623 TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) 737677,1580863 10339406,15772651,15489334,12477932,11042152,9931253 737677 10245 NM_005834,AF196971,AF207550,CH471224,AF034790,AF077039,AJ005895,AK290207,BC010142,BC028017,BC029446,BC091473,CR590343,CR591346,CR593692,CR615547 NP_005825,EAW50739,EAW50740,EAW50741,AAC24694,AAD27772,CAA06752,BAF82896,AAH10142,AAH29446,O60830,Q8NCS3 Hs.30570 GDB:11504463 DXS9822|JM3|TIM17B protein-coding 1345582 TIMM22 translocase of inner mitochondrial membrane 22 homolog (yeast) 1580863 15489334,14726512,14702039,12477932,11864609,10611480,9373149,8125298 29928 NM_013337,AC015884,CH471108,AF155330,AK000830,AK225453,BC002324,CR607232,CR622134 NP_037469,EAW90637,EAW90638,AAD40106,BAA91392,AAH02324,Q9Y584 Hs.702365 GDB:11508024 TEX4|TIM22 protein-coding 732380 TIMM23 translocase of inner mitochondrial membrane 23 homolog (yeast) 737677,1580863 15044455,10339406,15489334,12477932,12437925,10393182,9373149,8125298 737677 10431 NM_006327,AL450342,AF030162,AF116628,AK223331,AY442341,BC062707,BC066951,CR592367,CR592829,CR615767,CR618692,CR619494,CR621868 NP_006318,CAI14480,CAI14481,CAI14482,AAB84060,AAF71051,BAD97051,AAR14723,AAH62707,AAH66951,O14925,Q5SRD1,Q9P1K1 Hs.524308,Hs.661964 GDB:9956986 MGC22767|PRO1197|TIM23 protein-coding 1347528 TIMM23B translocase of inner mitochondrial membrane 23 homolog B (yeast) 653252 XM_928114,XM_001715214,AL672187,CR596190 XP_933207,XP_001715266,CAI16097,CAI16098 Hs.499594 bA592B15.7 protein-coding 734087 TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) 737677,1580863 10393182,9373149,8125298,16189514,12677068,12620389,10339406,15489334,12477932,10848612 737677 10469 NM_006351,AC010336,CH471139,AF026030,AF041254,AK223062,AK289634,BC033628,CR595021,CR597337,CR597878,CR600181,CR611101,CR627419 NP_006342,EAW68954,EAW68955,AAD01797,AAB97740,BAD96782,BAF82323,AAH33628,CAH10507,O43615,Q53G69,Q6AI07,Q9UPE4,ABM82227,ABM85412 Hs.465784 GDB:9957089 DKFZp686H05241|TIM44 translocator of inner mitochondrial membrane 44 protein-coding 1606193 TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 15044455,16008839,15489334,14702039,12620389,12477932,12437925,17353931,14743216 92609 CR617826,CR621888,NM_001001563,AC011500,CH471126,AK092396,AK097291,AK098197,AY444561,AY551341,BC009072,BC010736,BC014674,BC050082,BC121146,BC121147,BE386959,BI856163,BQ925812,BU540967,CR593054,CR596130,CR605554,CR612446,CR613215,CR615287,CR617770 Q0VAB1,Q330K1,Q3ZCQ8,NP_001001563,EAW56901,EAW56902,EAW56903,AAS68537,AAT01208,AAH09072,AAH10736,AAH50082,AAI21147,AAI21148 Hs.590956,Hs.597106 MGC102733|TIM50|TIM50L protein-coding 1350353 TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Deafness Dystonia Syndrome (MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system. 1600152,1580863 17353931,8841189,17999202,16411215,16332536,15772651,15710860,15489334,15254020,14509668,12745081,12477932,11956200,11875042,11803487,11601506,11489896,11405816,11101512,10878669,10873677,10611480,10552927,10051608,10051550,7959728,7643352,16189514 1600152 1678 NM_004085,AL035422,CH471115,BC005236,BC006994,BC015093,BC070284,U66035 NP_004076,CAB55875,EAX02853,EAX02854,AAH06994,AAH15093,AAH70284,AAC15946,O60220 Hs.447877 GDB:119090 DDP|DDP1|DFN1|MGC12262|MTS protein-coding 1626560 TIMM8AP translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 8841189 399520 NG_003187,AC008063,U66034 DDPP pseudo 734090 TIMM8B translocase of inner mitochondrial membrane 8 homolog B (yeast) TIMM8B belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 1580863 15489334,12477932,10611480,17353931,10552927 26521 NM_012459,AP002007,CH471065,EF445036,AF150087,AF152350,AF165967,AK025397,BC000711,BC105986,BC106067 NP_036591,EAW67180,ACA06083,AAD39994,AAF15100,AAD51801,AAH00711,AAI05987,AAI06068,Q9Y5J9 Hs.279915 GDB:10795859 DDP2|FLJ21744|MGC102866|MGC117373|TIM8B protein-coding 1352655 TIMM9 translocase of inner mitochondrial membrane 9 homolog (yeast) TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM] 1580863 10552927,16387659,15489334,14726512,12477932,12138093,11489896,10611480 26520 NM_012460,AL139021,CH471061,AF150100,AF152353,AK000666,BC020213,BC054875 NP_036592,EAW80735,EAW80736,EAW80737,EAW80738,AAD40006,AAF15103,AAH20213,AAH54875,Q9Y5J7 Hs.440525 GDB:10795861 TIM9|TIM9A protein-coding 1347215 TIMP1 TIMP metallopeptidase inhibitor 1 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. 1580145,1580146,1580147,1580148,1580155,1580156,1580157,1580159,1580160,1580161,1580162,1580163,1580164,1580165,1580166,1580167,1580168,1580169,1580170,1580171,1580172,1580863,2290466,2290349,2290345,2290356,2290399,1600154,2290467,2290351,2290353,2290348,2290354,2290364,2290346,2290468,2290352,2290343,2290350 18159069,18063811,18049028,18042068,18034264,18025061,17998244,17928006,17920311,17899257,17893005,17878270,17786346,17763191,17726014,17703334,17660250,17634538,17589947,17564313,17549663,17543340,17493602,17489740,17478562,17409012,17380436,17350093,17340613,17301822,17299802,17226791,17222415,17209789,12714508,2251898,3839290,1653055,18217401,18214300,16410344,16407831,16372907,16335952,16303743,16289162,16288711,16280123,16269968,16263699,16219294,16169070,16107690,16103240,16100012,16061701,16042227,16019435,16005367,15944607,15896974,15890357,15888067,15867221,15841325,15818737,15797648,15754388,15754326,15616792,15557756,15530852,15516987,15494493,15489334,15485866,15479729,15465038,15363818,15363817,17202148,17192464,17182940,17136882,17114213,17072372,17071711,17050530,17012236,17009408,17008230,16996520,16960901,16940985,16935611,16931892,16880228,16877361,16864898,16840178,16786122,16772717,16767366,16754484,16740002,16631927,16615041,16555295,16496359,16474379,17205957,14962256,14871825,14734567,14710472,14688084,14669348,14661256,14652000,14648584,14622947,14605322,14517716,12970724,12951656,12921631,12904305,12873541,12869573,12861139,12846741,12791318,12771930,12717827,12704667,12651627,12634064,12626459,12620441,12614934,12612199,12538453,12496489,12479097,12477932,12475252,12452001,12406369,12376362,12218659,12150976,12147251,12082592,12063180,12034345,12032189,11940298,11935340,11876751,11796725,11762702,11705862,11606052,11598182,11279011,10623524,10441576,10233411,10071915,9778693,9288970,9286280,9063449,8757599,7507419,3903517,3688834,3460333,3010309,2921031,2171551,2163605,1730286,1420137,12081564,15225209,16189514,15340161,15313474,15287862,15277439,15248826,15161657,15073104,15051730,15028476,14983226,14973177 1580145,1580146,1580147,1580148,1580155,1580156,1580157,1580159,1580160,1580161,1580162,1580163,1580164,1580165,1580166,1580167,1580168,1580169,1580170,1580171,1580172,2290466,2290349,2290345,2290356,2290399,1600154,2290467,2290351,2290353,2290348,2290354,2290364,2290346,2290468,2290352,2290343,2290350 7076 NM_003254,AY932824,CH471164,D11139,L47361,Z84466,AK074854,BC000866,BC007097,BQ181804,BU857950,CR407638,CR541982,CR590572,CR593351,CR602090,M12670,M59906,S68252,X02598,X03124,A10416 NP_003245,AAX47478,EAW59315,EAW59316,BAA01913,AAA75558,CAI42463,CAI42464,CAI42465,CAI42466,CAI42467,AAH00866,CAG28566,CAG46779,AAA52436,AAA63234,AAD14009,CAA26443,CAA26902,P01033,Q58P21,Q5H9A7,Q6FGX5,Q96QM2,CAA00898,ABM82048,ABM85227 Hs.522632 GDB:119615 CLGI|EPA|EPO|FLJ90373|HCI|TIMP tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor) protein-coding 733906 TIMP2 TIMP metallopeptidase inhibitor 2 This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. 1580653,1580169,1580863,1580650,1580161,2290349,2290352,2290394,2290395,2290398,2290436,2290406,1600154,2290397,2290392,2290408,2290360,2290359,2290402,2290407,2290358,2290466,2290468,2290467 8810321,17353931,15567754,15557756,15489334,15489233,15351863,15308656,15277439,15248826,15247230,15193960,15147743,15056834,15052627,14983226,14973177,14962256,14744773,14712492,14710472,14702039,14661256,14654538,14605322,14604886,14598888,14517716,12970724,18424416,18301898,18288718,18260263,18217401,18177649,18042068,18025061,17954022,17901377,17893005,17886098,17868665,17786346,17613170,17589947,17572184,17564313,17495113,17493602,17493172,17448043,17374529,17350093,17342343,17325663,17236757,17226791,17222415,17203468,17130843,17106248,17071711,17030988,17008230,16940985,16776850,16772717,16728425,16723886,16716258,16631927,16623785,16491114,16425263,16424893,16326706,16275157,16237750,16142692,16142392,16103240,16042227,16036783,15944607,15870703,15841325,15797648,15760767,15754326,15691353,15691234,15672858,15628723,15616792,18469019,12970394,12900406,12887919,12614934,12602913,12479097,12477932,12475252,12470034,12446683,12439941,12406369,12374789,12372458,12147251,12034400,12032297,11912288,11757622,11606052,11598182,11420387,11049985,11004090,10991943,10764764,10353844,9933646,9837731,9736043,9705310,9455735,9422789,8985130,8757599,8112602,7918391,2793861,2554304,2380196,2157214,1869284,1730286,1480041,1427908,15225209 1580653,1580169,1580650,1580161,2290349,2290352,2290394,2290395,2290398,2290436,2290406,1600154,2290397,2290392,2290408,2290360,2290359,2290402,2290407,2290358,2290466,2290468,2290467 7077 BC052605,BC071586,CR596527,CR612157,CR613160,CR616844,CR621263,J05593,M32304,S48568,X54533,NM_003255,AC022966,AC100788,CH471099,S68860,U44381,U44385,AK057217,AL110197,AL713764,BC010410,BC039613,BC040039,BC040445 AAH52605,AAH71586,AAA61186,AAA59581,AAB19474,CAA38400,P16035,Q96MC4,NP_003246,EAW89538,EAW89539,EAW89540,EAW89541,AAD14025,AAC50729,BAB71383 Hs.633514 GDB:132612 CSC-21K tissue inhibitor of metalloproteinase 2 protein-coding 735741 TIMP3 TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. 1600153,1559178,1580863,2290409,2290426,2290414,2290418,1600154,2290411,2290421,2290437,2290417,2290413,2290412,2290415,2290416,2290420,2290419,2290424 7925969,15609325,18186556,18006877,17970209,17901377,17897911,17893005,17676308,17657847,17592394,17488654,17470431,17376651,17209433,17206475,17202148,17130843,17080297,17033924,17030988,16989765,16908447,16858683,16771712,16259644,16225775,16223891,16079149,15944607,15879156,15824229,15714128,15688381,15599946,15592495,15538971,15489334,15468069,15467768,15461802,15387372,15313474,15297175,15225209,15223866,15203191,15123717,14605322,14532978,12969699,12845640,12687014,12654640,12652295,12477932,12388270,12372614,12044879,11988096,11879143,11827969,11827795,11821400,11353449,10854443,10591208,10196161,9642234,9110174,9065415,8981947,8919688,8808469,8806658,8728699,8666262,8663332,8639088,8634721,8619474,8521299,8188246,8174111,8163205,8034652,7920634,7894485,7795886,7782289,7772252,7588231,7550309,7487894,7148944,3903517,16189514 1600153,1559178,2290409,2290426,2290414,2290418,1600154,2290411,2290421,2290437,2290417,2290413,2290412,2290415,2290416,2290420,2290419,2290424 7078 NM_000362,AF001361,AL023282,CH471095,S79779,U33110,U33114,U38955,Z30183,Z98256,AF035289,AK098517,BC013086,BC014277,BT006848,CR456593,CR590317,CR591532,CR593019,CR593372,CR593651,CR594502,CR594958,CR595883,CR595938,CR596287,CR597142,CR602193,CR603101,CR604843,CR605518,CR607327,CR608290,CR609852,CR609959,CR610281,CR613064,CR613128,CR613233,CR613766,CR615393,CR615534,CR617133,CR617989,CR619079,CR620436,CR620838,CR621505,CR623084,CR624342,CR625842,CR625847,CR625951,D45917,L15078,S78453,U02571,U14394,U67195,X76227,X80791,CR616306 NP_000353,AAB68799,CAI17996,EAW60038,AAC50393,AAB17602,CAA82918,CAI20115,AAH14277,AAP35494,CAG30479,BAA08348,AAA21815,AAB34532,AAA17672,AAB60373,AAB07547,CAA53813,P35625,Q14867,Q6LEP5,CAK54624,CAK54923,ABM83507,ABM86724 Hs.682316,Hs.701968 GDB:138175 HSMRK222|K222|K222TA2|SFD tissue inhibitor of metalloproteinase 3 protein-coding 69155 TIMP4 TIMP metallopeptidase inhibitor 4 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. 1580863,2290439,2290466,2290434,2290436,1302333,1302825,2290471,2290414,2290421,2290437,2290433,2290435,1642040,2290463,2290420,2290455,2290467,2290470,2290461 8939999,18301898,18214300,16940965,16809379,16521002,15816637,15713681,15489334,15273280,14744773,12969699,12477932,12475252,12466243,12374789,12087081,11948685,11178970,10198170,9693046,9182583,16189514 2290439,2290466,2290434,2290436,1302333,1302825,2290471,2290414,2290421,2290437,2290433,2290435,1642040,2290463,2290420,2290455,2290467,2290470,2290461 7079 NM_003256,AC026166,AF057532,BC010553,BT019627,U76456,CH471055 NP_003247,AAC34422,EAW64122,AAH10553,AAV38433,AAB40391,Q99727,ABM82721,ABM85904 Hs.591665 GDB:5584685 tissue inhibitor of metalloproteinase 4 protein-coding 1346434 TINAG tubulointerstitial nephritis antigen TINAG is a basement membrane glycoprotein initially identified as a target of antibodies in some forms of immunologically mediated tubulointerstitial nephritis.[supplied by OMIM] 1580863 10652240,8770961,1762287,12477932,10752525,9643646,3553704,1466368,10581025 27283 NM_014464,AL359380,AL589946,CH471081,AB022277,AF195116,AF195117,BC056235,BC070278 NP_055279,CAI16272,CAI16273,EAX04437,BAA84949,AAF08931,AAF08932,AAH56235,AAH70278,Q5VUI9,Q5VUJ0,Q6NSC1,Q7Z477,Q9UJW2 Hs.127011 GDB:11504595 TIN-AG|TIN1|TIN2 protein-coding 1352792 TINAGL1 tubulointerstitial nephritis antigen-like 1 1580863 14702039,12975309,12477932,12358155,11170462,10799322,16303743,16189514,15498874,15489334,15340161,15231748 64129 NM_022164,AB050719,AC114488,AF236155,CH471059,CS051201,AB050716,AF205436,AF236150,AF289569,AK027839,AK074124,AK075398,AK292770,AY358421,BC009048,BC064633,CR596614,CR601511 NP_071447,BAB18727,AAG40154,EAX07603,EAX07604,EAX07605,EAX07606,EAX07607,CAI72096,BAB18636,AAG33699,AAG38876,AAL55753,BAB55403,BAB84950,BAC11596,BAF85459,AAQ88787,AAH09048,AAH64633,Q9GZM7 Hs.199368 GDB:11510386 ARG1|LCN7|LIECG3|TINAGRP lipocalin 7 protein-coding 1354058 TINF2 TERF1 (TRF1)-interacting nuclear factor 2 1580863 10581025,12768206,16166375,18252230,16880378,16344560,15741234,15632001,15489334,15383534,15316005,15292264,15231715,15181449,15133513,14715659,14702039,12835755,12530079,12477932,11938440,10850490,9373149,8125298,16189514 26277 NM_012461,NM_001099274,AL096870,CH471078,AF195512,AK023166,AK225379,BC005030,BC019343,BM549897,BX161478,CR590257,CR596834,CR598536,CR600876,CR606987,CR613506,CR614984,CR615677,CR617274,CR591539,CR621443,CR623530,CR623801,CR626188,DA053760 NP_036593,NP_001092744,EAW66048,EAW66049,EAW66050,AAF18439,BAB14440,AAH05030,AAH19343,CAD61933,Q86TZ8,Q9BSI4,ABM84316,ABM87710 Hs.496191 GDB:10796102 TIN2 protein-coding 1607078 TINP1 TGF beta-inducible nuclear protein 1 16861225,15635413,15489334,12477932,12429849,11124703,10486207 10412 NM_014886,AC093214,CH471084,CS300555,AF077615,AF372458,AJ012409,AY443419,BC005288,CR600412,CR613056,CR614877,CR620162 NP_055701,EAW95749,CAK32219,AAG43048,AAK53761,CAA10008,AAS00024,AAH05288,O95478,Q5J7U2 Hs.482526 GDB:9956922 CDK105|HCL-G1|NSA2|YR-29 protein-coding 1314636 TIPARP TCDD-inducible poly(ADP-ribose) polymerase 737633,1580863 15231747,16381901,16026592,15489336,15489334,14702039,12851707,12477932,11238919,11230166,11076863 737633 25976 NM_015508,AC092927,AC106708,CH471052,AK097785,AK291261,AL080156,BC033324,BC034397,BC050350,BX537965,CR608896,CR749647 NP_056323,EAW78725,EAW78726,EAW78727,EAW78728,BAF83950,CAB45747,AAH34397,AAH50350,CAD97929,CAH18441,Q05BQ2,Q0JT53,Q7Z3E1,CAL38311 Hs.12813,Hs.547611 DDF1|DKFZP434J214|DKFZp686N0351|DKFZp686P1838|FLJ40466|PARP-1|PARP-7|PARP7 protein-coding 1606275 TIPIN TIMELESS interacting protein 17102137,17296725,17141802,17116885,12875843,12477932,11256614,8889548 54962 NM_017858,AC055855,CH471082,AK000523,BC000870,BK001386,BU596053,BU688750 NP_060328,EAW77762,EAW77763,BAA91229,AAH00870,DAA01365,Q9BVW5 Hs.572318 FLJ20516 protein-coding 1605834 TIPRL TIP41, TOR signaling pathway regulator-like (S. cerevisiae) TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 300141) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM] 17353931,17384681,12761501,12477932 261726 NM_152902,NM_001031800,AL021397,CH471067,AB097034,AI167356,AL049670,BC009506,BX431957,CR608456,CR624002 NP_690866,NP_001026970,EAW90820,EAW90821,BAC77387,CAB41244,AAH09506,O75663 Hs.209431 MGC3794|RP1-69E11.1|TIP|TIP41|dJ69E11.3 protein-coding 1322402 TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. 11544529,12721283,15276183,12447442,14625308,16024789,16284379,15489334,15247281,15187145,15123841,14630816,14530355,12565889,12477932,12083783,11526399,16189514,11572860,16751103,16439361,18417424,18369480,18305471,18070880,17610834,17538633,17322885,17161867,16991088 114609 NM_001039661,NM_148910,AP001318,AY282416,CH471065,AF378129,AF406652,AF410783,AK124298,AY576785,AY576786,AY576787,BC032474 NP_001034750,NP_683708,AAP31973,EAW67687,EAW67688,EAW67689,AAL05627,AAL01160,AAL05036,AAT90417,AAT90418,AAT90419,AAH32474,P58753,Q56UH9,Q56UI0,ABM81914,ABM85090 Hs.537126 FLJ42305|Mal|wyatt 1643548,2289174 SADIPOQ10_H,SADIPOQ7_H protein-coding 1318637 TJAP1 tight junction associated protein 1 (peripheral) 15263016,15489334,15302935,14702039,14574404,12477932,11602598,9373149,8125298 93643 NM_080604,AL355802,AL359813,CH471081,AJ420477,AK024269,AK074241,AK094907,AK123398,AK127338,AK225787,BC046239,BC064401,CR606306,CR749480,AL117398 NP_542171,CAI42617,CAI42618,CAI42619,CAI42620,EAX04192,EAX04193,EAX04194,EAX04195,EAX04196,EAX04197,EAX04198,EAX04199,EAX04200,EAX04201,BAB14867,AAH46239,AAH64401,CAH18308,Q5JTD0,CAI46221 Hs.520145 GDB:11508026 DKFZp686F06131|PILT|RP3-337H4.1|TJP4 tight junction protein 4 (peripheral) protein-coding 1314849 TJP1 tight junction protein 1 (zona occludens 1) This gene encodes a protein located on a cytoplasmic membrane surface of intercellular tight junctions. The encoded protein may be involved in signal transduction at cell-cell junctions. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 11042084,12154091,8486731,18162065,17962811,17928286,17760848,17541973,17509776,17259442,17243118,17217619,17118974,17081983,17039425,16909128,16891661,16737969,16637659,16344560,16140936,15855653,15622522,15540229,15500294,15489334,15456900,15183511,14628289,12953056,12881224,12865409,12808048,12808044,12742348,12725331,12708492,12578837,12488461,12477932,12169098,12152786,12064592,12064590,12023291,11734628,11700038,16427635,11590321,11557048,11489913,11292600,11228248,11060040,11018051,10966866,10862698,10856295,10613913,10601346,10575001,10334923,10026224,9792688,9792678,9707407,9611137,9531559,9214391,9110174,8825647,8619474,8395056,7798316,7682777,7542259,1590354,15977641,12639940,15331416 7082 NM_175610,NM_003257,AC022613,AF169196,CH471205,DQ015919,AB370197,AF035298,BC036090,BC111712,BX640879,CR749235,DA752892 NP_783297,NP_003248,AAG43399,EAW51506,EAW51507,EAW51508,EAW51509,EAW51510,AAY22179,BAF95000,AAI11713,CAE45936,CAH18091,Q07157,Q68DX9,Q6MZU1,Q9H317 Hs.510833 GDB:555860 DKFZp686M05161|MGC133289|ZO-1 protein-coding 1349947 TJP1P tight junction protein 1 (zonula occludens 1) pseudogene 64730 GDB:11504651 733146 TJP2 tight junction protein 2 (zona occludens 2) Tight junction proteins (TJPs) belong to a family of membrane-associated guanylate kinase (MAGUK) homologs that are involved in the organization of epithelial and endothelial intercellular junctions. TJPs bind to the cytoplasmic C termini of junctional transmembrane proteins and link them to the actin cytoskeleton.[supplied by OMIM] 734629,1600163,1580863 8824195,17353931,18224337,17217619,17081983,16964243,16381901,15592455,15570572,15489336,15489334,15324660,15302935,15164053,15144186,14515355,14512431,12829691,12704386,12645256,12477932,12403786,12152786,12023291,11855865,11598001,11076863,11042084,11018256,10966866,10874042,10613913,10601346,10575001,10495427,10360833,10026224,9458817,7951235,7542259,15977641,16697675,15778465 734629,1600163 9414 AF177519,AF177520,AF177521,AF177522,AF177523,AF177524,AF177525,AF177526,AF177527,AF177528,AF177529,AF177530,AF177531,AF177532,AF177533,AL358113,CH471089,AF083892,AF083893,AF489824,AK025185,BC027592,BC028426,L27476,U84581,NM_004817,NM_201629,AF177518 AAC02527,AAD56218,AAD56219,CAH70867,CAH70868,CAH70869,CAH70870,CAM13389,EAW62476,EAW62477,EAW62478,EAW62479,EAW62480,AAC33121,AAC33122,AAM28524,AAH27592,AAA61300,AAB41794,Q5VXK8,Q5VXL1,Q9UDY2,CAL37567,CAL37590,CAL37681,CAL37845,NP_004808,NP_963923,AAD20387 Hs.50382 GDB:9956650 MGC26306|X104|ZO-2|ZO2 tight junction protein 2 protein-coding 1319483 TJP3 tight junction protein 3 (zona occludens 3) 1580863 15057824,14702039,12477932,12021270,11557048,10601346,10575001,9531559 27134 NM_014428,AC005954,AC006125,CH471139,AK027292,AK091118,AK128237,BC108906,BC108907 NP_055243,AAC72274,EAW69292,EAW69293,BAB55020,AAI08907,AAI08908,O95049,Q2VPE5,Q32N01,Q96KB4 Hs.25527 GDB:10796083 MGC119546|ZO-3 protein-coding 736473 TK1 thymidine kinase 1, soluble 1580863 2026611,3335503,17407781,17227951,17065087,16969512,16964243,16169070,15978330,15809747,15733844,15611477,15489334,15353126,15153115,14719072,14701726,14697231,14659972,12699056,12477932,12449723,11992400,11474248,11389691,10924519,9575153,8786092,6549046,3785218,3301530,3128713,2538159,2263164,1848304,1370831,16189514 7083 AC021593,AC087645,CH471099,M13643,M15205,AA633286,AW183491,BC006484,BC007872,BC007986,BI754079,BT006941,CR590511,CR591037,CR591908,CR592444,CR593153,CR594239,CR596456,CR598176,CR598673,CR599432,CR600464,CR601356,CR603401,CR607869,CR610610,CR611623,CR611771,CR614033,CR615052,CR615808,CR617552,CR620254,NM_003258,CR621570,CR622637,CR624049,CR625563,K02581 NP_003249,EAW89505,EAW89506,EAW89507,EAW89508,AAA61189,AAA61191,AAH06484,AAH07872,AAH07986,AAP35587,AAA61187,P04183 Hs.515122 GDB:120439 TK2 thymidine kinase 1 protein-coding 1319538 TK2 thymidine kinase 2, mitochondrial The mitochondrial deoxyribonucleotide (dNTP) pool is separated from the cytosolic pool because the mitochondria inner membrane is impermeable to charged molecules. The mitochondrial pool is maintained by either import of cytosolic dNTPs through dedicated transporters or by salvaging deoxynucleosides within the mitochondria; apparently, enzymes of the de novo dNTP synthesis pathway are not present in the mitochondria. In nonreplicating cells, where cytosolic dNTP synthesis is downregulated, mtDNA synthesis depends solely on the mitochondrial salvage pathway enzymes, the deoxyribonucleoside kinases. Two of the 4 human deoxyribonucleoside kinases, deoxyguanosine kinase (DGK) and thymidine kinase-2, are expressed in mitochondria. Human DGK, encoded by the DGUOK gene (MIM 601465), efficiently phosphorylates deoxyguanosine and deoxyadenosine, whereas TK2 phosphorylates deoxythymidine, deoxycytidine, and deoxyuridine. Thymidine kinase-2 (TK2) is a deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine, and also phosphorylates antiviral and anticancer nucleoside analogs.[supplied by OMIM] 1358594,1580863 12493767,12477932,12391347,11687801,9989599,9598140,1597187,605384,9079672,17913703,17468435,17065084,16969512,16344560,15907288,15639197,14659972,12873860,12687391,12682338 1358594 7084 AC010542,CH471092,AF521891,AK026021,AK026041,BC029263,BC040667,BC113928,BC134344,BC142970,CR617510,DA500158,U77088,U80628,NM_004614,Y10498 NP_004605,EAW83013,EAW83014,EAW83015,EAW83016,EAW83017,AAN73847,AAI34345,AAI42971,AAC51167,AAC51168,CAA71523,O00142,Q6I8R3,Q8IZR3 Hs.512619 GDB:120440 protein-coding 1345157 TKCR torticollis, keloids, cryptorchidism and renal dysplasia 6132873 7085 GDB:119616 732645 TKT transketolase (Wernicke-Korsakoff syndrome) 724769,1599574,1580863,1300048,1641798,1641814,1580394 17353931,8419340,16916647,15952740,15592455,15489334,15302935,14702039,12665801,12477932,11736629,9611778,9373149,9357955,9115179,16289162,8969223,8850526,8125298,2495942,1567394,1486804,16189514 724769,1599574,1641798,1641814,1580394 7086 NM_001064,AC097015,CH471055,AK057092,AK092084,AK093667,AK223614,AK289454,BC002433,BC008615,BC009970,BC024026,BX647248,BX649193,CR594422,CR600295,CR604669,CR607604,CR608351,CR609139,CR610315,CR625509,CR626834,L12711,U55017,X67688 NP_001055,EAW65281,EAW65282,BAD97334,BAF82143,AAH02433,AAH08615,AAH09970,AAH24026,CAE46212,AAA61222,AAA98961,CAA47919,P29401,Q53EM5,Q6MZE3,ABM84004,ABW03565 Hs.89643 GDB:132402 FLJ34765|TKT1 protein-coding 1351621 TKTL1 transketolase-like 1 1580863 8838793,18302154,17321041,16969476,16465194,16381901,15991799,15772651,15489336,15489334,12477932,11256614,11076863 8277 NM_012253,BX664723,CH471172,U14622,Z49258,AK292224,AK292261,BC025382,X91817 NP_036385,EAW72749,EAW72750,EAW72751,EAW72752,EAW72753,AAA21557,CAH69899,CAH69900,CAI39236,CAM13053,CAM13054,BAF84913,BAF84950,AAH25382,CAA62925,P51854,Q5H9M3,Q5TYJ8,CAL37456,CAL38410,ABM81738,ABM84893 Hs.102866 GDB:3851468 TKR|TKT2 protein-coding 1604771 TKTL2 transketolase-like 2 11256614,16381901,16344560,16189514,15489336,14702039,12477932,11230166,11076863 84076 AK057537,AK098582,AL136779,AL834334,BC028707,BC125101,BC142943,CR533560,DB095901,NM_032136,AC093788,CH471056,AK057325 BAB71427,BAB71524,CAB66713,CAD39002,AAH28707,AAI25102,AAI42944,CAG38591,Q8ND81,Q96LZ0,Q9H0I9,CAL37955,AAI43054,AAI43055,AAI46699,NP_115512,EAX04838 Hs.303923 DKFZP434L1717|FLJ32975 protein-coding 1602658 TLCD1 TLC domain containing 1 12477932,12151215 116238 NM_138463,AC010761,CH471159,BC014072 NP_612472,EAW51133,EAW51134,AAH14072,Q96CP7 Hs.705716 protein-coding 2292702 TLCD2 TLC domain containing 2 16793762,16625196 727910 XM_001126126,XM_001718130,XM_001717022,AC130343 XP_001126126,XP_001718182,XP_001717074,A6NGC4 Hs.569766 protein-coding 1319465 TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 1580863 9751710,8365415,8808280,1303260,18258796,17680780,17255769,16169070,16166252,15768032,15489334,15187083,15164053,14651967,12477932,12441302,12397081,12391155,12057191,12030375,11748221,11731482,11551980,11238932,10748198,10660609,10209158,9887105,9874198,9854018,9334241,8713081,8687460,17353931,16189514 7088 NM_005077,AL353682,AL365190,CH471089,AB209854,AK290860,BC010100,BC015747,CR612105,M99435 NP_005068,CAI12595,CAI12596,CAI12597,CAI14976,CAI14977,CAI14978,EAW62636,EAW62637,BAD93091,BAF83549,AAH10100,AAH15747,AAA61192,Q04724,Q59EF7,Q5T3G2,Q5T3G3,ABM84199,ABM87603 Hs.197320 GDB:228031 ESG|ESG1|GRG1 protein-coding 1315408 TLE2 transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) 1580863 17041588,8808280,1303260,15489334,15057824,14702039,12477932,11748221,11266540,10825294,9887105,9874198,9854018,9334241,8365415,16189514 7089 NM_003260,AC007766,AC011549,CH471139,AK123183,BC017364,M99436 NP_003251,AAD38075,EAW69348,EAW69349,AAH17364,AAA61193,Q04725 Hs.332173 GDB:228048 ESG|ESG2|FLJ41188|GRG2 protein-coding 1351900 TLE3 transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 1580863 17220478,17353931,8808280,1303260,18273443,17081983,16964243,15489334,15302935,14702039,12477932,12441302,12397081,11238932,10997877,10748198,8365415 7090 NM_005078,NM_001105192,NM_020908,AC026583,AC068327,CH471082,AB046767,AB209672,AK000083,AK001258,AK096779,AY583459,AY583460,BC012004,BC015421,BC015729,BC041831,BC043247,CR603419,M99438 NP_005069,NP_001098662,NP_065959,EAW77848,EAW77849,EAW77850,EAW77851,BAB13373,BAD92909,AAS90945,AAS90946,AAH41831,AAH43247,AAA61194,Q04726,Q59EY9,Q6PI57,Q6PRX2,Q6PRX3 Hs.287362 GDB:228049 ESG|ESG3|FLJ39460|GRG3|HsT18976|KIAA1547 protein-coding 733230 TLE4 transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 1580863 1303260,18258796,17060451,15302935,15164053,14702039,12477932,12153506,10574462,8365415,10811620 7091 NM_007005,AL353813,AL358975,AL445252,CH471089,AB033087,AF068197,AI279314,AI620368,AK057236,AL162059,BC036369,BC045650,BC059405,BC060038,BQ006122,CR615563,CR624203,M99439,W68064 NP_008936,CAI41311,CAI41313,CAI41315,CAI41316,CAI41318,CAC22598,CAC22599,CAI13732,CAI13734,CAI13735,CAI13736,CAI13738,CAI13642,CAI13644,CAI13645,CAI13646,CAI13648,EAW62627,EAW62628,EAW62629,EAW62630,EAW62631,EAW62632,BAA86575,AAC18942,CAB82397,AAH45650,AAH59405,AAA61195,Q04727,Q5JTT6,Q5T1Y0,Q5T1Y4,Q5T1Y5 Hs.444213 GDB:228050 BCE-1|BCE1|E(spI)|ESG|ESG4|GRG4 transducin-like enhancer of split 4, e(spl) homolog (drosophila) protein-coding 1343822 TLE6 transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) 1580863 15489334,14702039,12477932,11486032 79816 NM_024760,AC006277,AC007766,CH471139,AK024071,BC007215,BC007329,BC013986,BC020206,BC068052,CR590811,CR607853 NP_079036,AAD38076,EAW69350,EAW69351,EAW69352,EAW69353,BAB14815,AAH07215,AAH13986,AAH20206,Q6PJM9,Q9H808,Q9Y6S1 Hs.334507 FLJ14009|GRG6|MGC14966 protein-coding 1321237 TLK1 tousled-like kinase 1 The Tousled-like kinases, first described in Arabadopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly.[supplied by OMIM] 1580863 12660173,17353931,8274451,9427565,10588641,10523312,17081983,17054786,16156902,15950181,15489334,15302935,14732354,14702039,12955071,12477932,12168954,11470414,11314006,8590280,16189514 9874 NM_012290,AC009953,AC010092,CH471058,AB004885,AF162666,AF246219,AK090779,AK091975,AK292508,BC032657,BX537631,D50927,Z25421 NP_036422,AAX93162,AAY15077,EAX11220,EAX11221,EAX11222,EAX11223,BAA20562,AAF03094,AAF71263,BAF85197,AAH32657,BAA09486,CAA80908,Q15444,Q53TE4,Q53TF9,Q9UKI8,ABM81830,ABM84983 Hs.655640 GDB:9784862 KIAA0137|PKU-BETA protein-coding 1322082 TLK2 tousled-like kinase 2 The Tousled-like kinases, first described in Arabidopsis, are nuclear serine/threonine kinases that are potentially involved in the regulation of chromatin assembly.[supplied by OMIM] 12660173,17353931,9427565,10523312,15489334,15302935,12477932,11470414,10455159,8889548 11011 AF162667,AI381985,AI621235,BC013736,BC044925,BC060511,BM668399,BX647225,CR611549,NM_006852,NM_001112707,AC008026,AC080038,CH471109,AA430024,AB004884 BAA20561,AAF03095,AAH44925,Q86UE8,NP_006843,NP_001106178,EAW94343,EAW94344,EAW94345,EAW94346,EAW94347,EAW94348,EAW94349 Hs.445078 GDB:9956133 MGC44450|PKU-ALPHA protein-coding 1625821 TLK2P1 tousled-like kinase 2 pseudogene 1 646202 NG_006102,AC123769 TLK2ps1 pseudo 1625805 TLK2P2 tousled-like kinase 2 pseudogene 2 553121 NG_006100,AL135791 TLK2ps2 pseudo 1314549 TLL1 tolloid-like 1 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites. 1580863 8661043,16507574,15489334,14702039,12477932,11313359,10896944,10516436,10479448 7092 NM_012464,AC093874,AC097502,AC097507,CH471056,AF282732,AK021908,BC016922,BC136430,U91963 NP_036596,EAX04813,AAF86287,AAH16922,AAI36431,AAB93878,O43897 Hs.106513 GDB:9120554 TLL protein-coding 1312462 TLL2 tolloid-like 2 This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. 1580863 15489334,15164054,12477932,11313359,11076863,10806368,10516436,10479448,10231032 7093 NM_012465,AL136181,AL138765,AL391136,CH471066,AB023149,AF059516,AK026106,BC013871,BC030548,BC112341,BC112366,BC113577 NP_036597,CAH72983,CAI13580,CAH72234,EAW49975,EAW49976,BAA76776,AAD42979,AAH13871,AAI12342,AAI12367,AAI13578,Q9Y6L7,AAI11600 Hs.154296 GDB:9120556 KIAA0932|MGC133312|MGC133313 protein-coding 1314756 TLN1 talin 1 This gene encodes a cytoskeletal protein which is concentrated in areas of cell-substratum and cell-cell contacts. This protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. 1580863 10320340,10610730,15070891,15494027,18056416,17722883,17597073,17591777,17591693,17430904,16546176,16407302,15983060,15728584,15592455,15581353,15489334,15031296,14581461,12695497,12665801,12606711,12571287,12477932,12422220,12168954,11932255,11382782,11336656,11279249,11113628,10827173,10806106,10581178,10497223,10470851,10393080,9442086,8663236,8635876,7635475,7622520,7534286,2150484,1439807,12119179,8641358 7094 NM_006289,AF178534,AL133410,CH471071,AB028950,AF078828,AF113217,AF177198,BC020881,BC042923,CR594557,Z50170 NP_006280,AAF27330,CAI10978,CAI10979,EAW58352,EAW58353,BAA82979,AAD13152,AAG39288,AAF23322,AAH42923,Q5TCU5,Q5TCU6,Q9H3E8,Q9Y490 Hs.471014 GDB:3811186 ILWEQ|KIAA1027|TLN protein-coding 1350417 TLN2 talin 2 This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. 1580863 10320934,11907066,15494027,17183545,17081983,16964243,15581353,15302935,12422220,12422219,12168954,11527381,9205841,9110174,8619474,12119179 83660 NM_015059,AB304389,AB304390,AB304391,AB304392,AB304393,AB304394,AB304395,AC068233,AC100839,AC103740,AL122065,CH471082,AB002318,AF007154,AF070527,AF085910,AF402000,BX647654,BX648144,BX648146 NP_055874,EAW77615,EAW77616,EAW77617,BAA20778,AAM73764,Q9Y4G6 Hs.569438,Hs.610975 GDB:9785573 DKFZp451B1011|DKFZp686I0976|DKFZp686K0979|ILWEQ|KIAA0320 protein-coding 1320607 TLR1 toll-like receptor 1 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. 1580863,1643119 11081518,11607792,12077222,9435236,10426995,18461142,18091991,18056480,18006661,17932345,17889651,17595679,17595233,17548585,17475868,17395901,17314700,17202359,17172927,16971956,16893894,16880211,16848791,16537705,16461792,16455995,16374251,16177110,16081826,16002719,15812078,15793154,15790341,15489334,15340161,14966134,12975352,12600829,12477932,12091878,11932926,11782555,11561001,11230166,11095740,10820283,8838819,7584028,7584026 1643119 7096 NM_003263,AC108044,CH471069,AK292982,AL050262,AW408740,BC089403,BC109093,BC109094,BU623316,CR533562,D13637,U88540 NP_003254,EAW92901,BAF85671,CAB43364,AAH89403,AAI09094,AAI09095,CAG38593,BAA02801,AAC34137,Q15399,Q32MK4,Q5FWG5,Q6FI64 Hs.621817,Hs.654532 GDB:9834071 CD281|DKFZp547I0610|DKFZp564I0682|KIAA0012|MGC104956|MGC126311|MGC126312|TIL|rsc786 protein-coding 1323096 TLR10 toll-like receptor 10 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Its exact function is not known. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 11267672,15276183,14625308,15728506,16024789,18091991,17932345,16702361,16537705,15812078,15489334,15201134,12975309,12689944,12477932,11970999,11782555,11561001,9435236 81793 NM_001017388,NM_030956,AC108044,AC118137,CH471069,AF296673,AK292026,AW504309,AY358300,BC089406,BC109111,BC109112 Q32MI8,Q9BXR5,NP_001017388,NP_112218,EAW92897,EAW92898,EAW92899,EAW92900,AAK26744,BAF84715,AAQ88667,AAH89406,AAI09112,AAI09113,Q32MI7 Hs.120551 GDB:11508787 CD290|MGC104967|MGC126398|MGC126399 protein-coding 1352317 TLR11 toll-like receptor 11 15001781 442887 1343448 TLR12 toll-like receptor 12 14993594 442888 1348322 TLR13 toll-like receptor 13 14993594 442889 1353654 TLR2 toll-like receptor 2 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is expressed most abundantly in peripheral blood leukocytes, and mediates host response to Gram-positive bacteria and yeast via stimulation of NF-kappaB. 1580863,1643119 17373355,17332447,17322885,17316370,17301562,17292969,17264305,17258734,17239937,17229603,17227763,17227759,17207025,17205552,17202359,17196867,17191175,17187404,17179672,17172927,17130790,17130564,17100621,17096074,17082626,17082324,17045187,17038528,17020928,17013994,16988837,16984411,16973891,16971956,16955390,16951309,16950283,16907704,16901312,16893894,16880211,16879199,16864901,16861636,16848791,16843693,16829623,16818794,16802353,16767222,16766226,16754688,16754684,16751412,16731773,16712654,16648973,16629651,16621981,16608528,16606450,16551363,16517732,16514159,16497887,16484229,16482509,16478769,16455995,16443229,16439361,16437124,16374251,16371473,16336272,16293622,16290232,16283346,16270639,16267105,16242370,16239565,16230348,16213463,16179594,16177110,16146574,16115866,16107886,16081826,16035096,16034117,16004610,16002719,15968536,15955814,15950961,15919371,15910421,15875151,15864780,15814732,15793154,15790341,15778388,15760459,15760452,15753758,15731050,15731043,15731031,15728506,15726416,15717270,15699513,15696084,15670766,15670752,15585865,15583145,15539529,15521019,15516360,15501775,15496409,15489631,15489334,15456896,15385480,15322009,15321997,15319868,15305230,15272059,15247281,15247273,15214053,15210811,15175649,15173186,15155685,15148609,15146415,15146246,15146245,15138193,15064239,15044215,15041961,15007364,15007351,15007072,14987294,14981245,14979495,14966134,14738464,14709406,14707104,14706104,14706103,14694183,14673018,14662888,14651524,14607814,14551607,14500665,12975352,12966099,12958190,12946842,12942028,12941697,12874236,12860988,12817025,12816980,15342637,12734376,12734363,12663765,12651614,12646604,12630564,12594207,12588460,12540550,12538701,12525572,12477932,12471095,12445799,12438323,12437972,12397021,12356755,12270725,12207338,12171914,12163593,12089142,12077222,12061629,11932927,11912201,11894098,11877429,11867688,11867630,11842086,11836257,11782555,11751856,11724772,11561001,11477091,11476982,11276206,11222859,11160242,11101877,11081518,11035751,10963608,10548109,10426995,10395652,9751057,9596645,15107846,16189514,12810071,11521063,11518816,11986301,10854325,15657077,15276183,10426996,11044375,12443841,9435236,14625308,16024789,18461142,18445187,18442320,18369480,18368233,18349186,18325643,18312481,18275280,18249133,18219831,18201568,18195069,18180796,18177245,18175935,18089358,18073264,18067993,18062119,18056480,18054497,18040078,18029454,18028450,18025115,18006661,18001294,17984211,17974158,17967853,17964520,17956467,17942642,17934843,17928056,17916440,17916356,17914947,17913539,17908769,17892476,17889651,17878330,17878165,17877764,17872459,17855803,17855767,17854755,17728249,17713436,17711514,17709420,17676990,17675516,17667860,17652449,17651447,17640874,17624834,17600044,17599732,17595233,17588655,17567674,17565650,17565608,17563761,17562761,17555409,17554618,17554342,17532476,17531301,17522215,17493681,17481719,17475853,17446209,17443468,17409197,17395901,17390084,17389503 1643119 7097 NM_003264,AC106865,CH471056,AF051152,AF502291,AK125659,AW614989,BC033756,BI769109,U88878 NP_003255,EAX04952,EAX04953,AAC34377,AAM23001,AAH33756,AAC34133,O60603,ABM84931,ABW03649 Hs.519033 GDB:9864744 CD282|TIL4 protein-coding 1343581 TLR3 toll-like receptor 3 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It may thus play a role in host defense against viruses. Use of alternative polyadenylation sites to generate different length transcripts has been noted for this gene. 1580863,1643119 16111635,12054664,10426995,12133979,16286015,9435236,11607032,12609980,12692549,12855817,15064760,18385087,18325643,18204787,18172197,18029758,18021446,17982077,17964520,17962701,17962643,17947455,17939877,17908959,17872438,17851256,17805015,17786279,17660379,17626075,17602875,17573354,17534115,17525119,17521732,17449641,17434873,17314152,17301562,17292969,17254392,17209042,17178723,17150911,17142772,17142768,17085778,17043099,16950283,16935934,16914605,16877304,16858407,16847112,16720699,16628196,16585585,16484229,16533755,16482523,16473828,16424203,16399790,16293707,16289658,16160153,16146574,16144834,16043704,16035096,16029432,15972671,15961631,15935884,15845391,15778392,15767394,15737993,15731229,15652398,15579900,15502848,15340161,15315972,15226270,15212709,15153468,15119015,15107846,14987294,14982987,14729660,14575692,14557267,14519765,12672806,12646618,12539043,12509442,12477932,11782555,11561001,10820283 1643119 7098 NM_003265,NG_007278,AC104070,CH471056,BC017954,BC043204,BC059372,BC068487,BC094737,BC096333,BC096334,BC096335,DQ445682,DQ470075,DQ470076,DQ470077,DQ470078,DQ470079,U88879 NP_003256,EAX04628,EAX04629,AAH17954,AAH59372,AAH94737,AAH96333,AAH96334,AAH96335,ABE01399,ABF06633,ABF06634,ABF06635,ABF06636,ABF06637,AAC34134,O15455,Q05D55,Q1KMK2,Q4VAL2,Q504W0,Q6PCD4 Hs.657724 GDB:9864746 CD283 protein-coding 737013 TLR4 toll-like receptor 4 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta, and in myelomonocytic subpopulation of the leukocytes. It has been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness. Also, several transcript variants of this gene have been found, but the protein coding potential of most of them is uncertain. 1580680,1580682,1580733,1580734,1580735,1580736,1580737,1580738,1624159,1620794,1620681,1620653,1580863 14699116,14693986,14651524,14638766,14610481,14600154,14597728,14578307,14565959,14563652,14557267,14551607,14519765,14517278,12964127,12960171,12957699,12942028,12941697,12925853,12923493,12897738,12874320,12865424,12855579,12846053,12832426,17121827,17101559,17100974,17100625,17100621,17096074,17086894,17062130,17057796,17056597,17055575,17044867,17038528,17015691,17008589,16990552,16988837,16982657,16973891,16971956,16969132,16961803,16955390,16954131,16950283,16936080,16933467,16907704,16890863,16888192,16879239,16879199,16879054,16849487,16843693,16840031,16837493,16830219,16829202,16818785,16803995,16802353,16786156,16785528,16779724,16754725,16754684,16754682,16751411,16740140,16738534,16731773,16717116,16714144,16706818,16651628,16629651,16613760,16606645,16603631,16585591,17124436,10835634,11544529,11970998,15276183,11254600,12133979,15027902,17951129,9435236,10426995,12447442,14556004,14625308,16024789,18437214,18422738,18415752,18385087,18382655,18368233,18360565,18348860,18344712,18338763,18325643,18312481,18307517,18306470,18298826,18297073,18288881,18286551,18275280,18251133,18234474,18213697,18209571,18209079,18182917,18180796,18180278,18178854,18174680,18172114,18092352,18089358,18084608,18082569,18070880,18067993,18062835,18062119,18056968,18054497,18042837,18040078,18034897,18034244,18031543,18029454,18025155,18008256,18001295,18000954,17996871,17992634,17992260,17982277,17977838,17967488,17964870,17964520,17962701,17956942,17956467,17947706,17942642,17934216,17928056,17927684,17925445,17921137,17916356,17914947,17909078,17908769,17892476,17878380,17877801,17877764,17872459,17855803,17855767,17854755,17850411,17849054,17827066,17803912,17767165,17724596,17720800,17718424,17713436,17709532,17709420,17707233,17699831,17681703,17675516,17660297,17652449,17625598,17624583,17623651,17600225,17599732,17597463,17595233,17592301,17592300,17588655,17587646,17579031,17579019,17565323,17559631,17556642,17555409,17549384,17545720,17538633,17530716,17529905,17513785,17493663,17482427,17476680,17465679,17462092,17449325,17448042,17431743,17417801,17414051,17404865,17395901,17390084,17389503,17384648,17381401,17381056,17373355,17362744,17344072,17333217,17332447,17328955,17324405,17322885,17314700,17314284,17309748,17309585,17304101,17301819,17301562,17301271,17292969,17264400,17258734,17237368,17235555,17229603,17228323,17220311,17206636,17179672,17172927,17157899,17156435,17151549,17143969,17130564,16581829,12810071,16567359,16556150,16552356,16525349,16523497,16517732,16508260,16487240,16469362,16461792,16443229,16441767,16439361,16437636,16436969,16397127,16395111,16393227,16388712,16385250,16371473,16357190,16343635,16338476,16338228,16304445,16301860,16290232,16270639,16267105,16266379,16246938,16239841,16239565,16219455,16219107,16215326,16213463,16202743,16157451,16157088,16146574,16142747,16135957,12796470,12794153,12782302,12777373,12773319,12773175,12742999,12738639,12734376,12730365,12724322,12717385,12630564,12622779,12599057,12594207,12592402,12591474,12588460,12552467,12525572,12495941,12477953,12477932,12444143,12438323,12411706,12406828,12404174,12402214,12397216,12391239,12324481,12324469,12270725,12196527,12193670,12174084,12165534,12124407,12117914,12089142,12055604,12045108,11976338,11964313,11932927,11932926,11923281,11912201,11893689,11877429,11842086,11841848,11836257,11835533,11782555,11751856,11743586,11728442,11706042,11688988,11561001,11529488,11526399,11514453,11494169,11490012,11477091,11466383,11104518,11081518,10952994,10734131,10524757,10359581,9625770,9237759,12646618,15337750,15321997,15305230,15302104,15292002,15277575,15273551,15258789,15247281,15225640,15213237,15207785,15194649,15190267,15187145,15175649,15175334,15155619,15148609,15143473,15138173,15132988,15107846,15087412,15081257,15069085,15044215,15041961,15039334,15022344,15016407,15007351,14987294,14764599,14764071,14739370,14738464,14735148,14715415,14709406,14706103,16107886,16085746,16051275,16044857,16019531,16010583,16006099,16002719,15973118,15972671,15953129,15932772,15927851,15919371,15910856,15910421,15905704,15883205,15882292,15879290,15875057,15866876,15866212,15864121,15863460,15852007,15845500,15843568,15829498,15809303,15796767,15790341,15778388,15770725,15760459,15760452,15752733,15728517,15699327,15696495,15694388,15691841,15670831,15665723,15661045,15655821,15650037,15647432,15644417,15632890,15623538,15614130,15610077,15591473,15576653,15557191,15547160,15528333,15525557,15520404,15516360,15509550,15489631,15456896,15452251,15385480,15695310,15373967,15367917,15358455,15356557,15356101,15351720,15341923,15340161,14699155 1580680,1580682,1580733,1580734,1580735,1580736,1580737,1580738,1624159,1620794,1620681,1620653 7099 NM_138554,AF172171,AF177765,AF177766,AL160272,CH471090,AK226155,AK290053,AK293068,AL710219,BC025294,BC117422,U69193,U88880,U93091 NP_612564,AAF89753,AAF05316,AAF07823,CAH72618,CAH72619,EAW87451,BAF82742,BAF85757,AAI17423,AAC34135,AAC80227,O00206,Q5VZI7,Q5VZI8,Q5VZI9 Hs.174312 GDB:9600295 ARMD10|CD284|TOLL|hToll protein-coding 1348706 TLR5 toll-like receptor 5 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene product is expressed in myelomonocytic cells, and recognizes bacterial flagellin, a principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB and stimulates tumour necrosis factor-alpha production. 1580863,1643119 15747241,15731050,15685542,15489334,15340161,15302888,15135456,15107846,15069060,15067088,14707135,14623910,14607814,12933896,12925853,12794153,12734364,12702497,12600829,12477932,12185085,11953430,11782555,11561001,11323673,10820283,10426995,9596645,9435236,18325643,18213697,17587322,17516623,17442957,17283206,16971956,16897777,16670329,16644730,16482509,16470719,16439468,16339542,16284379,16239509,16179598,16044857,16027372,15956202 1643119 7100 NM_003268,AL359979,AL929091,CH471100,AB060695,AF051151,AI628024,BC109118,BC109119,DB448079,U88881 NP_003259,EAW93262,EAW93263,BAB43955,AAC34376,AAI09119,AAI09120,AAC34136,O60602,Q32MI2,Q5T3N4 Hs.604542 GDB:9864748 FLJ10052|MGC126430|MGC126431|SLEB1|TIL3 protein-coding 1344850 TLR6 toll-like receptor 6 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. 1580863,1643119 11431423,11686851,10231569,10426995,12077222,14625308,16024789,18325643,18091991,18056480,17932345,17827388,17651447,17595233,16880211,16648973,16537705,16482509,16461792,16374251,16188043,16177110,16081826,15812078,15661917,15266299,14966134,14706104,12724322,12477932,11970999,11782555,11607792,11561001,11441107,11123271,11095740,11081518,9435236 1643119 10333 NM_006068,AC108044,CH471069,AB020807,BC111755 NP_006059,EAW92902,BAA78631,AAI11756,Q2NKL3,Q9Y2C9 Hs.662185 GDB:9956369 CD286 protein-coding 1353456 TLR7 toll-like receptor 7 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung, placenta, and spleen, and lies in close proximity to another family member, TLR8, on chromosome X. 1580863,1643119 16111635,15276183,16188996,16286015,14625308,16024789,18385087,18250417,18088248,18021446,17964520,17956986,17907191,17698957,17609264,17608805,17512627,17371961,17301562,17075576,17040905,17023556,16973388,16935934,16887967,16623926,16517754,16482509,16446426,16230478,16116638,16025564,15778362,15695821,15489334,12975309,12477932,12045249,12032557,11970999,11909637,11782555,11022120,11022119,9435236 1643119 51284 NM_016562,AC005859,CH471074,AF240467,AF245702,AY358292,BC033651 NP_057646,EAW98807,AAF60188,AAF78035,AAQ88659,AAH33651,Q9NYK1,ABM82195,ABM85383 Hs.659215 GDB:11508785 protein-coding 1605396 TLR8 toll-like receptor 8 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. 1643119 16123302,12032557,16111635,14976262,15276183,16188996,16286015,14625308,16024789,17964520,17932028,17868034,17724596,17698957,17301562,17090647,17040905,17023556,16935934,16857668,16737960,16482509,16303743,16025564,16008579,15489334,12975309,12724322,12477932,11909637,11782555,11607792,11022120,11022119,9435236 1643119 51311 NM_138636,AC005859,AC139705,CH471074,AF245703,AF246971,AK075117,AY358296,BC101074,BC101075,BC101076,BC101077,CR596887 NP_619542,EAW98808,EAW98809,AAF78036,AAF64061,BAC11412,AAQ88663,AAI01075,AAI01076,AAI01077,AAI01078,Q495P6,Q495P7,Q8NC00,Q9NR97 Hs.660543 GDB:11508786 CD288|MGC119599|MGC119600 protein-coding 1346715 TLR9 toll-like receptor 9 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is preferentially expressed in immune cell rich tissues, such as spleen, lymph node, bone marrow and peripheral blood leukocytes. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. 1580863,1643119 15723075,15276183,11130078,16286015,14625308,14751759,15207506,16024789,18332208,18312481,18275280,18208876,18160420,18092352,18036648,17984204,17964520,17932028,17914947,17894360,17893430,17878374,17854755,17854429,17768129,17636117,17573724,17534115,17516623,17482427,17473064,17469139,17440926,17373717,17373355,17344245,17328813,17325049,17301562,17295441,17292969,17258734,17229603,17145922,17142771,17075805,17040905,17000223,16990271,16971956,16951309,16920494,16864658,16849519,16847112,16779724,16731773,16608528,16575840,16437636,16428738,16424230,16394009,16371473,16237063,16230478,16164440,16125159,16024265,16002719,15878652,15860583,15790341,15730519,15631627,15607737,15585868,15489334,15307186,15294971,15153500,15107846,14987294,14716310,14694183,12975309,12941697,12925853,12867418,12778475,12734363,12724322,12689944,12600829,12573264,12560217,12477932,11976718,11970999,11909637,11867692,11782555,11564765,11561001,11022120,11022119,9435236 1643119 54106 NM_017442,AC097637,CH471055,AB045180,AF245704,AF246972,AF246973,AF246974,AF259262,AF259263,AY359085,BC032713 NP_059138,EAW65191,EAW65193,BAB19259,AAF78037,AAG01734,AAG01735,AAG01736,AAF72189,AAF72190,AAQ89443,AAH32713,Q9NR96 Hs.87968 GDB:10449562 CD289 protein-coding 1351719 TLX1 T-cell leukemia homeobox 1 1599439,1580863 18283632,18187418,18073142,17713543,17609427,17213805,16862188,16407851,16357834,15897879,15384172,14504110,12180349,12054735,11342305,10393251,10327073,9778044,9009195,8099440,7555717,1973146,1717256,1681546,1676542,1352396 1599439 3195 NM_005521,AF067443,AJ009794,AL357395,CH471066,BC130530,M62626,M75952,S38742 NP_005512,AAG10096,CAA08834,CAH72448,EAW49778,AAI30531,AAA36719,AAA58662,AAB19293,P31314,Q9UD59 Hs.89583 GDB:119607 HOX11|MGC163402|TCL3 t-cell leukemia, homeobox 1 protein-coding 1320082 TLX2 T-cell leukemia homeobox 2 1580863 16969514,16402914,16291166,15489334,12477932,10446220,10343123,9738002 3196 AB008502,NM_016170,AC005041,AJ002607,AJ002609,CH471053,AB008501,BC006356,BC006396,BC018611 NP_057254,CAA05636,EAW99630,BAA83463,AAH06356,O43763,Q9UD56,ABZ92008 Hs.168586 GDB:9864364 Enx|HOX11L1|NCX t-cell leukemia, homeobox 2 protein-coding 1353737 TLX3 T-cell leukemia homeobox 3 RNX (HOX11L2, TLX3) belongs to a family of orphan homeobox genes that encode DNA-binding nuclear transcription factors. Members of the HOX11 gene family are characterized by a threonine-47 replacing cytosine in the highly conserved homeodomain (Dear et al., 1993 [PubMed 8099440]).[supplied by OMIM] 1580863 17308084,16966433,15990867,15674415,15489334,15334547,15240857,14504110,12970786,12477932,12454747,12407709,12130513,11587205,11435718,11435716,8099440 30012 NM_021025,AC091980,AJ223798,CH471062,BC017291 NP_066305,CAA11550,EAW61452,AAH17291,O43711,ABM83580,ABM86819,ABM87084 Hs.249125 GDB:11504421 HOX11L2|MGC29804|RNX t-cell leukemia, homeobox 3 protein-coding 1602315 TM2D1 TM2 domain containing 1 The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent dimunition of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. 15126508,12836168,12553667,12477932,11278849 83941 NM_032027,AC099791,CH471059,AF353990,BC029486,BC048995 NP_114416,EAX06597,EAX06598,EAX06599,AAK35064,AAH29486,Q9BX74 Hs.656790 BBP protein-coding 1602456 TM2D2 TM2 domain containing 2 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. 16303743,12477932,11278849,9373149,8125298 83877 NM_031940,NM_078473,NM_001024380,NM_001024381,AC108863,CH471080,CQ783012,CQ783226,AF353991,AK075027,AK075155,AK225093,AL834224,BC004878,BC109049,BC109050,BG424960,CR598562,CR608326,CR612275,CR617736,CR623886 NP_114146,NP_510882,NP_001019551,NP_001019552,EAW63286,EAW63287,EAW63288,EAW63289,CAF86219,CAF86421,AAK35065,BAC11359,BAC11437,CAH10695,AAH04878,AAI09050,AAI09051,Q9BX73 Hs.7471 BLP1|MGC125813|MGC125814 protein-coding 1602099 TM2D3 TM2 domain containing 3 The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. 16642435,14702039,12477932,11278849 80213 NM_078474,AC090164,CH471101,AF353992,AK026257,AK094955,AL512689,BC006150,BC008873,BQ272585,CR591311,CR592279,CR597856,NM_025141,CR601791,CR605151,CR609942,CR615415,CR619206 NP_079417,NP_510883,EAX02313,EAX02314,EAX02315,AAK35066,BAB15415,CAC21647,AAH06150,AAH08873,Q9BRN9 Hs.288912 BLP2 protein-coding 1320105 TM4SF1 transmembrane 4 L six family member 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. 1580863 7510285,16169070,15812828,15489334,14702039,12855661,12477932,11774983,11739647,11426942,11102519,8168850,7829101,1565644 4071 NM_014220,AC073522,AC108751,CH471052,AK093829,AK130073,AK130271,AL832780,BC008442,BC010166,BC034145,BG142206,BI494959,CR456953,CR617959,M90657,X75684 NP_055035,EAW78874,EAW78875,EAW78876,AAH08442,AAH10166,AAH34145,CAG33234,AAA36158,P30408,Q8NE91 Hs.708032 GDB:250815 H-L6|L6|M3S1|TAAL6 protein-coding 1605011 TM4SF18 transmembrane 4 L six family member 18 15489334,12477932,10975581 116441 NM_138786,AC093001,CH471052,AL833134,BC014339 NP_620141,EAW78877,EAW78878,EAW78879,AAH14339,Q96CE8 Hs.22026 L6D protein-coding 1605592 TM4SF19 transmembrane 4 L six family member 19 16344560,15489334,12477932 116211 NM_138461,AC069257,CH471191,AF192910,BC015348,BC146993,BP395549,BQ678650,DB015357 NP_612470,EAW53661,AAQ13824,AAH15348,AAI46994,Q336K7,Q96DZ7 Hs.135997,Hs.710321 OCTM4 protein-coding 1605628 TM4SF20 transmembrane 4 L six family member 20 16344560,15815621,15489334,14702039,12975309,12477932 79853 NM_024795,AC097662,CH471063,AK026453,AY358671,BC035754,DA926038 NP_079071,AAY24253,EAW70870,BAB15488,AAQ89034,AAH35754,Q53R12 Hs.156652 FLJ22800|PRO994|TCCE518 protein-coding 731779 TM4SF4 transmembrane 4 L six family member 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation. The use of alternate polyadenylation sites has been found for this gene. 1580863 7665614,15489334,14702039,12477932,11739647,10975581,9737661 7104 NM_004617,AC108751,CH471052,CS223383,AK055577,BC001386,BT007430,CR624110,U31449 NP_004608,EAW78870,EAW78871,CAJ46931,AAH01386,AAP36098,AAA74745,P48230 Hs.133527 GDB:9113817 FLJ31015|ILTMP|il-TMP protein-coding 1318639 TM4SF5 transmembrane 4 L six family member 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. 1580863 9479038,18357344,16828471,15489334,12477932,11774983,11739647,10975581,8895530 9032 NM_003963,AC091153,AC109333,CH471108,AF027204,BC069519,BC093688,BC117163,CR456925,CR541798 NP_003954,EAW90412,EAW90413,AAB82947,AAH69519,AAH93688,AAI17164,CAG33206,CAG46597,O14894,Q6FHF6 Hs.184194 GDB:9954787 protein-coding 1317482 TM6SF1 transmembrane 6 superfamily member 1 1580863 12477932,11124529,9373149,8125298 53346 NM_023003,AC024270,CH471188,CQ834420,AF255922,AK223246,AK292100,BC032007,BC063487,DQ021909 NP_075379,EAW62428,CAH05425,AAG59699,BAD96966,BAF84789,AAH32007,AAH63487,AAY44754,Q4U0U5,Q53FN6,Q6P4D7,Q8N5N8,Q9BZW5 Hs.513094 GDB:10796452 protein-coding 1318158 TM6SF2 transmembrane 6 superfamily member 2 1580863 16344560,15057824,14702039,12477932,11572484,11124529 53345 NM_001001524,AC003967,AC138430,CH471106,AF255923,AK024515,AK026307,AK097070,BC120986,BC120987,DA930032 NP_001001524,EAW84806,EAW84807,AAG59700,BAC04941,AAI20987,AAI20988,Q8N8A7,Q9BZW4,AAI60089 Hs.531624 GDB:10796453 KIAA1926 protein-coding 1322541 TM7SF2 transmembrane 7 superfamily member 2 1580863 9878250,16784888,15489334,12477932,11937680,11784322,9615229,9286704 7108 NM_003273,AF048704,AF096303,AP003068,CH471076,AF023676,AF096304,AK290935,BC009052,BC012857,BC038353,BG771219,CR590553,CR591372,CR594174,CR595034,CR600165,CR604066,CR610989,CR612163,CR613021,CR620950,CR622162 NP_003264,AAC21457,AAD09769,EAW74348,EAW74349,EAW74350,EAW74351,AAC21450,AAD09765,BAF83624,AAH09052,AAH12857,AAH38353,O76062 Hs.31130 GDB:9466549 ANG1|DHCR14A protein-coding 1315548 TM7SF3 transmembrane 7 superfamily member 3 1580863 15489334,14702039,12477932,10828615 51768 NM_016551,AC024896,CH471094,AB032470,AK002031,AK023085,BC005176,CR614967 NP_057635,EAW96542,BAA92856,BAA92046,AAH05176,Q9NS93 Hs.438641 protein-coding 1321334 TM7SF4 transmembrane 7 superfamily member 4 Dendritic cells are unique in their ability to present antigen to naive T cells, and therefore play a central role in the initiation of immune responses. The protein encoded by this gene is a transmembrane molecule that is preferentially expressed by dendritic cells. Its expression is down-regulated by ligation of the CD40 molecule. 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. 1580863 11169400,15601667,15489334,14702039,12477932,11345591,11345586 81501 BC112020,BC112018,NM_030788,AP003471,CH471060,AF277290,AF305068,AK095417,BC069349 AAI12019,AAI12021,Q9H295,NP_110415,EAW91892,AAL02152,AAG39167,AAH69349 Hs.652230 DCSTAMP|FIND|MGC138223|MGC138225 protein-coding 1316066 TM9SF1 transmembrane 9 superfamily member 1 1580863 9332367,15489334,12477932,11595169 10548 NM_001014842,AL136295,CH471078,AA663295,AK292110,BC010856,BM922952,BX161390,BX161494,CR604869,CR606704,NM_006405,CR614007,CR614922,CR618221,CR621520,U94831 NP_006396,NP_001014842,EAW66073,EAW66074,EAW66075,EAW66076,EAW66077,BAF84799,AAH10856,CAD61879,CAD61941,AAC51782,O15321,Q86SZ6 Hs.91586 GDB:9957626 HMP70|MP70 protein-coding 1343017 TM9SF2 transmembrane 9 superfamily member 2 1580863 9729438,15489334,15231748,15057823,14702039,12477932,9373149,9230071,8125298 9375 NM_004800,AL139035,CH471085,CQ834842,AK093507,AK129798,AK225800,AK290514,BC110656,BC130293,CR605342,L13803,U81006 NP_004791,CAH71381,EAX09023,CAH05636,BAF83203,AAI10657,AAI30294,AAB38973,Q5W0F3,Q99805 Hs.654824 GDB:9956118 FLJ26287|MGC117391|P76 protein-coding 1604607 TM9SF3 transmembrane 9 superfamily member 3 11595169,16303743,14702039,12975309,12477932 56889 NM_020123,AL138765,CH471066,AF116347,AF160213,AF269150,AK000756,AK027438,AK027788,AK074824,AK075093,AK075451,AY358819,BC020959,BC136788,BC136789 NP_064508,CAI13583,CAI13584,EAW49972,EAW49973,EAW49974,AAF21983,AAF67014,AAF98159,BAA91362,BAB55110,BAB55369,BAC11232,BAC11397,BAC11629,AAQ89178,AAH20959,AAI36789,AAI36790,Q5TB53,Q5TB57,Q8NBK7,Q8NCC4,Q8WUB5,Q96JZ5,Q96K55,Q9HD45 Hs.500674 EP70-P-iso|RP11-34E5.1|SMBP protein-coding 1317150 TM9SF4 transmembrane 9 superfamily protein member 4 737633,1580863 15489334,14702039,12477932,11780052,9039502,8889548 737633 9777 NM_014742,AL049539,CH471077,CQ834450,CQ834502,AK124411,AK126534,BC005173,BC021107,BC022850,BM976438,CR610143,CR611710,D87444,DC381660 NP_055557,CAB75607,EAW76389,EAW76390,EAW76391,CAH05440,CAH05466,BAC86581,AAH21107,AAH22850,BAA13385,Q6ZTK5,Q92544 Hs.654665 KIAA0255|dJ836N17.2 protein-coding 1605964 TMBIM1 transmembrane BAX inhibitor motif containing 1 16636500,16607040,16303743,15498874,15489334,15278903,14702039,12477932,11996952 64114 NM_022152,AC021016,CH471063,CQ871236,AB257295,AF173384,AF193045,AK027755,AK075465,AK090618,AK093911,AK130380,AK130713,BC007980,BC013428,BC026348,BC026693,BX471120,CA488388,CD514853,CF994144,CR603628,CR615165 NP_071435,EAW70607,EAW70608,EAW70609,CAH56799,BAE93467,AAQ13625,AAG22473,BAB55346,BAC11636,AAH07980,AAH13428,AAH26348,AAH26693,Q1MW40,Q7Z4D9,Q969X1,ABM81925,ABM84708 Hs.591605 MST100|MSTP100|PP1201|RECS1 protein-coding 1602117 TMBIM4 transmembrane BAX inhibitor motif containing 4 17353931,17319741,16303743,15489334,12477932,11042152,10931946,10810093,9373149,8125298 51643 AC078927,CH471054,NM_016056,AF113127,AF151877,AF161526,AF182041,AF182414,AK075069,AK225158,AL117550,BC004401,BC020613,BC052273,BC070366,BC094852,BG534013,CR597581,CR597621 NP_057140,EAW97158,EAW97159,EAW97160,EAW97161,EAW97162,AAF14868,AAD34114,AAF29141,AAG16898,AAG14950,BAC11384,AAH04401,Q542Z6,Q7Z782,Q9HC19,Q9HC24,Q9NZZ2,AAI48529,AAI56585 Hs.505934 CGI-119|GAAP|S1R|ZPRO protein-coding 1318596 TMC1 transmembrane channel-like 1 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. 1599440,1580863 17877751,16287143,15605408,14702039,12812529,12477932,11850623,11850618,8755925,8634715 117531 NM_138691,AL162416,AL449323,AL590662,AL591662,CH471089,AF417578,AK098607,BC103955,BC103956,BC114380,BC114449,BC141860 AAI41861,Q3MI88,Q5VTM6,Q8TDI8,AAI56562,NP_619636,EAW62539,EAW62540,EAW62541,AAL86399,BAC05351,AAI03956,AAI03957,AAI14381 Hs.670211 GDB:636178 DFNA36|DFNB11|DFNB7 protein-coding 1320766 TMC2 transmembrane channel-like 2 This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, expression in the inner ear suggests that it may be crucial for normal auditory function. Mutations in this gene may underlie hereditary disorders of balance and hearing. 1580863 16344560,14702039,12975309,12906855,12812529,12477932,11850618,11780052,11076863 117532 NM_080751,AL049712,CH471133,AF417580,AK094789,AK127751,DA769512 NP_542789,CAI22420,EAX10591,EAX10592,EAX10593,AAL86401,BAC04423,BAC87114,Q8TDI7,AAI11451 Hs.352626 GDB:11508034 C20orf145|dJ686C3.3 protein-coding 1352795 TMC3 transmembrane channel-like 3 1580863 16572171,12906855,12812529,12477932 342125 NM_001080532,AC103858,AY236490,AY263163,BC132679,BC157874,BX640632 NP_001074001,AAP69868,AAP78778,AAI32680,AAI57875,Q7Z5M5 Hs.253489 protein-coding 1312473 TMC4 transmembrane channel-like 4 1580863 12906855,12812529,12477932 147798 NM_144686,AC012314,CH471135,CU457734,AY236492,AY263166,BC025323,BC032477,CR605550 NP_653287,EAW72196,EAW72197,EAW72198,CAP19117,CAP19118,AAP69870,AAP78781,AAH25323,AAH32477,Q7Z404,ABM83107,ABM86303 Hs.355126 MGC39329 protein-coding 1315994 TMC5 transmembrane channel-like 5 1580863 14702039,12975309,12906855,12812529,12477932 79838 NM_001105249,NM_024780,AC130456,CH471186,AI738488,AK023655,AK093944,AK097718,AK131202,AY236494,AY263164,AY358155,NM_001105248,BC027602,BC038118,BC070101,CR749359 NP_001098718,NP_001098719,NP_079056,EAW50279,EAW50280,EAW50281,BAB14629,AAP69872,AAP78779,AAQ88522,AAH27602,AAH38118,CAH18212,Q6UXY8 Hs.115838 FLJ13593 protein-coding 1351267 TMC6 transmembrane channel-like 6 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. 18158319,17081983,17008061,16487602,15489334,15042430,14702039,12906855,12812529,12477932,12426567,10844558,10084299 11322 NM_001127198,NG_007881,NG_007879,AC021593,CH471099,AB002405,AK021738,AK074065,AK096076,AK310734,AY057379,AY099356,AY099357,AY236496,BC007766,BC018346,NM_007267,BC023597,BC035648,CR596410,DQ104440 NP_009198,NP_001120670,EAW89487,EAW89488,EAW89489,EAW89490,EAW89491,EAW89492,EAW89493,BAA24179,BAB13884,BAB84891,AAL25836,AAM44452,AAM44453,AAP69874,AAH07766,AAH18346,AAH23597,AAH35648,AAZ20186,Q7L2M4,Q7Z403,Q8IUI7,Q96I77,ABM83242,ABM86444 Hs.632227 EV1|EVER1|EVIN1|FLJ17776|LAK-4P epidermodysplasia verruciformis 1 protein-coding 1344679 TMC7 transmembrane channel-like 7 1580863 14702039,12906855,12812529,12477932 79905 NM_024847,AC099518,CH471186,AK024893,AK094664,AY236498,AY263165,BC036205,BC047719,CR933669 NP_079123,EAW50266,EAW50267,BAB15032,AAP69876,AAP78780,AAH36205,AAH47719,CAI45966,Q7Z402 Hs.187377 DKFZp781O2274|FLJ21240 protein-coding 1353841 TMC8 transmembrane channel-like 8 Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. 18224692,18158319,17960179,17711520,17081983,15489334,14702039,12906855,12812529,12477932,12426567,10844558 147138 NM_152468,NG_007881,NG_007879,AC021593,CH471099,AK090478,AK097987,AK125672,AK128327,AL834508,AY057380,AY099358,AY099359,AY236500,BC028076,BC110296,BC141865,DC407759 NP_689681,EAW89494,EAW89495,EAW89496,EAW89497,BAC03459,BAC05210,BAC86239,AAL25837,AAM44454,AAM44455,AAP69878,AAH28076,AAI10297,AAI41866,Q8IU68 Hs.592102 EV2|EVER2|EVIN2|FLJ40668|FLJ43684|MGC102701|MGC40121 epidermodysplasia verruciformis 2 protein-coding 1349742 TMCC1 transmembrane and coiled-coil domain family 1 737633,1580863 17081983,15489334,12477932,9872452 737633 23023 NM_001017395,NM_015008,AC023162,AC083799,AC117492,AL449209,CH471052,AB018322,AK124671,AK291448,BC012480,BC030619,BC034284,BC039859,BC047517,BX640712,CR749206 NP_001017395,NP_055823,EAW79231,EAW79232,EAW79233,EAW79234,EAW79235,EAW79236,BAA34499,BAF84137,AAH34284,AAH39859,CAE45831,CAH18064,O94876,Q6N039,Q8N4H2 Hs.477547 DKFZp686M0169|FLJ42680 transmembrane and coiled-coil domains 1 protein-coding 1344956 TMCC1P transmembrane and coiled-coil domains 1 pseudogene 494556 1346306 TMCC2 transmembrane and coiled-coil domain family 2 737633,1580863 15345747,14702039,12975309,12477932,12168954,9455484 737633 9911 AY358192,BC041019,BC053876,BC131629,CR596838,CR601467,NM_014858,AC093422,CH471067,AB001596,AB007950,AK095816,AK131419 BAD18566,AAQ88559,AAH41019,AAH53876,AAI31630,O75069,Q6UXV5,Q7Z6C6,Q8IW47,NP_055673,EAW91545,EAW91546,EAW91547,EAW91548,BAB46924,BAA32326 Hs.6360 FLJ38497|HUCEP11|KIAA0481 transmembrane and coiled-coil domains 2 protein-coding 1346901 TMCC3 transmembrane and coiled-coil domain family 3 737633,1580863 15489334,12477932,10737800,10574462,10574461 737633 57458 NM_020698,AC026672,CH471054,AB032971,AB073655,AI361720,BC040535,BE158711,CA772279,CR620972 NP_065749,EAW97510,EAW97511,EAW97512,BAA86459,AAH40535,Q9ULS5 Hs.370410,Hs.594945 KIAA1145 transmembrane and coiled-coil domains 3 protein-coding 1601866 TMCO1 transmembrane and coiled-coil domains 1 17081983,16710414,16565220,15489334,15146197,14702039,12975309,12477932,10393320,9110174,8619474 54499 NM_019026,AL451074,CH471067,AB020980,AF070626,AF274935,AF277194,AI379550,AK093302,AY359027,AY763589,BC000104,CN430121,CR601444,CR604565,CR607946,CR610775,CR611739,CR614041,CR614153,CR617534,CR621470,CR622258,CR626447 NP_061899,CAH74064,EAW90762,EAW90763,EAW90764,EAW90765,BAA86974,AAC25388,AAK07514,AAK07549,AAQ89386,AAV34755,AAH00104,Q9UM00 Hs.93832,Hs.706477 HP10122|PCIA3|PNAS-136|RP11-466F5.7|TMCC4 protein-coding 1603584 TMCO2 transmembrane and coiled-coil domains 2 16710414,15489334,12477932 127391 NM_001008740,AL050341,CH471059,BC108666,BU567634,BU569147,CR613757,DB518323 NP_001008740,CAB81609,EAX07235,AAI08667,Q7Z6W1 Hs.406265 MGC131705|dJ39G22.2 protein-coding 1315285 TMCO3 transmembrane and coiled-coil domains 3 16344560,15489334,15057823,14702039,12975309,12477932 55002 AL442125,CH471085,AF209505,NM_017905,AK000630,AK074415,AY358768,BC012564,BC068515,CR601002,CR624956,DA803233 NP_060375,CAI39784,CAI39785,EAX09212,EAX09213,EAX09214,EAX09215,AAM92892,BAA91295,BAB85074,AAQ89128,AAH12564,AAH68515,Q6UWJ1 Hs.317593 C13orf11|FLJ20623 chromosome 13 open reading frame 11 protein-coding 1606122 TMCO4 transmembrane and coiled-coil domains 4 12477932 255104 NM_181719,AL031727,AL031730,AL391883,CH471134,AK127543,AL049846,AL049847,AL832390,BC053600,BX640987,CR611925 NP_859070,CAI19015,CAI19016,EAW94897,EAW94898,EAW94899,EAW94900,EAW94901,EAW94902,EAW94903,BAC87027,CAB42850,CAB42851,AAH53600,CAE45994,Q5TGY1,Q6ZSC6 Hs.656313 DKFZp686C23231|RP5-1056L3.6 protein-coding 1606151 TMCO5 transmembrane and coiled-coil domains 5 14702039,12477932 145942 NM_152453,AC091005,CH471125,AK093126,BC029221 NP_689666,EAW92362,EAW92363,BAC04065,AAH29221,Q8N6Q1 Hs.179646 FLJ35807|MGC35118 protein-coding 1605060 TMCO6 transmembrane and coiled-coil domains 6 16344560,14702039,12477932,16189514 55374 NM_018502,AC116353,CH471062,AA398902,AK097088,AK289495,BC001910,BC009618,BC065828,BQ066786,CR594879,CR626186,DA035906 NP_060972,EAW62032,EAW62033,EAW62034,EAW62035,EAW62036,BAF82184,AAH01910,AAH09618,Q96DC7,ABM81913,ABM85089 Hs.706810 FLJ39769|PRO1580 protein-coding 1606243 TMCO7 transmembrane and coiled-coil domains 7 14702039,12477932,11214970,12421765 79613 BC001839,BC015617,BC092500,BQ005531,XM_928235,XM_940431,NM_024562,AC009082,AC009137,CH471092,AB051533,AK022750,AK095333,BC001813 AAH92500,Q9C0B7,XP_933328,XP_945524,NP_078838,EAW83246,BAB21837,BAB14224 Hs.13526 FLJ12688|KIAA1746 protein-coding 1354453 TMED1 transmembrane emp24 protein transport domain containing 1 The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1). This protein lacks any similarity to other interleukin 1 ligands. The functional significance of its interaction with IL1RL1 is not known. 1580863 8621446,15489334,15231748,15057824,12477932,11466339,16189514 11018 NM_006858,U41804,AC007229,CH471106,BC002443,BC018831,BF794897,CR612632,CR616116,CR618553,CR623047 AAC50419,Q13445,ABM83566,ABM86804,NP_006849,AAD23605,EAW84152,AAH02443 Hs.515139 IL1RL1LG|Il1rl1l|MGC1270|ST2L transmembrane emp24 domain containing 1 protein-coding 731656 TMED10 transmembrane emp24-like trafficking protein 10 (yeast) This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. 16641999,15308636,17081065,15489334,15146197,14702039,12508121,12477932,11739402,11689559,10376215,9373149,8663407,8125298,7596406,11703931,10214941,11726511 10972 NM_006827,AC007055,AL049780,AL691403,CH471061,U61734,AJ004913,AK023615,AK056156,AK222972,AL832012,BC001496,BC001825,BG675810,BX248754,BX504393,CN420777,CR591402,CR599482,CR602807,CR603760,CR606438,CR612906,CR613899,CR625338,DB528262,L40391,L40397,X97442 NP_006818,AAD31941,EAW81223,EAW81224,EAW81225,AAB03625,CAA06213,BAD96692,CAD89913,AAH01496,AAH01825,CAD66561,AAC42003,CAA66071,P49755,Q53GF9 Hs.74137 P24(DELTA)|S31I125|S31III125|TMP21|Tmp-21-I protein-coding 1606664 TMED10P transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 10376215,8663407 286102 NR_002807,AF235103,AJ004914,X97444 Hs.684601 Tmp21-II pseudo 735876 TMED2 transmembrane emp24 domain trafficking protein 2 16641999,17693410,15489334,12477932,11739402,11703931,10214941,8703076,8663407,15308636 10959 NM_006815,AC055713,CH471054,AK024976,BC025957,BI086507,CR541663,CR541682,CR612554,CR620150,X92098 NP_006806,EAW98417,EAW98418,AAH25957,CAG46464,CAG46483,CAA63069,Q15363,Q6FHT8 Hs.75914,Hs.592682 FLJ21323|P24A|RNP24 protein-coding 1347293 TMED3 transmembrane emp24 protein transport domain containing 3 737633 15489334,12975309,12477932,9373149,8125298 737633 23423 AC011797,AC027811,CH471136,AJ132270,AK075529,AK222516,AK289434,AL109672,AL109673,AY358974,BC000027,NM_007364,BC010853,BC017495,BC022232,BC111547,CR457384,CR590619,CR591443,CR593572,CR601983,CR605050,CR605716,CR607648,CR608143,CR608578,CR610279,CR611061,CR612506,CR612589,CR618083,CR618237,CR618755,CR619199,CR621451 NP_031390,EAW99138,EAW99139,CAB40416,BAC11674,BAD96236,BAF82123,CAB52017,CAB52018,AAQ89333,AAH00027,AAH10853,AAH17495,AAH22232,AAI11548,CAG33665,Q53HR4,Q8N2D9,Q9UMB6,Q9Y3Q3 Hs.513058 C15orf22|MGC133022|P24B transmembrane emp24 domain containing 3 protein-coding 1352955 TMED4 transmembrane emp24 protein transport domain containing 4 1331357,1580863 12761501,18326488,16381901,16303743,15489336,15489334,12690205,12477932,11230166,11076863,8076819 1331357 222068 NM_182547,AC004938,CH236960,CH471128,AB097009,AK074557,AK290125,AY191223,BC001576,BC025705,BC035467,BC052641,BC053583,BC057851,BX647965,CR623248,CR626080 NP_872353,EAL23751,EAW61090,EAW61091,EAW61092,BAC77362,BAC11058,BAF82814,AAP20105,AAH52641,AAH57851,Q0JSC3,Q56VW3,Q7Z432,Q7Z7H5,Q8N2P6,CAL38079,CAL38591 Hs.598832,Hs.709414 ERS25|HNLF protein-coding 1349482 TMED5 transmembrane emp24 protein transport domain containing 5 737633,1580863 15308636,16710414,15489334,12975309,12477932,10810093 737633 50999 NM_016040,AC126124,AL117354,CH471097,AF151858,AK125882,AL080084,AY359039,BC016365,BC016556,BC038511,BC070051,CR592267,CR601720,CR607162,CR936808 NP_057124,EAW73081,EAW73082,AAD34095,AAQ89398,AAH16365,AAH16556,AAH38511,AAH70051,Q49AG2,Q5TE70,Q5TE72,Q9Y3A6 Hs.482873 CGI-100|DKFZp781B2248|RP5-976O13.2 protein-coding 1346090 TMED6 transmembrane emp24 protein transport domain containing 6 737633,1580863 15489334,12975309,12477932 737633 146456 NM_144676,AC026464,CH471092,AY358268,BC020827 NP_653277,EAW83272,AAQ88635,AAH20827,Q8WW62,ABM82323,ABM85502 Hs.658619 MGC23911|PRO34237|SPLL9146 protein-coding 1342694 TMED7 transmembrane emp24 protein transport domain containing 7 737633,1580863 16303743,15489334,14702039,12477932,10810093,9490301 737633 51014 AB002451,AF151867,AK027512,AK074962,AK075218,BC019349,BC107426,NM_181836,AC010226,CH471086,CQ783782 AAD34104,BAB55166,BAC11318,BAC11479,AAH19349,AAI07427,Q3B7W7,Q8NBU8,Q9Y3B3,NP_861974,EAW48959,CAF86859 Hs.642817,Hs.705455 CGI-109|FLJ90481 protein-coding 1347349 TMED8 transmembrane emp24 protein transport domain containing 8 15489334,15334068,14702039,12508121,12477932 283578 NM_213601,AC007954,CH471061,AK025695,AK095650,AY598329,BC101510,BX248262 NP_998766,AAF62560,EAW81282,EAW81283,AAT06740,AAI01511,CAD62590,Q6PL24,Q86T10 Hs.26403,Hs.200413 FAM15B|MGC126559 transmembrane emp24 domain containing 8 protein-coding 1344143 TMED9 transmembrane emp24 protein transport domain containing 9 737633 15308636,15489334,12754519,12477932,10744732,1918067 737633 54732 NM_017510,AC139795,BX640856,CH471195,AF441399,BC001123,BG830564,CR591581,CR592044,CR592143,CR593286,CR595101,CR595378,CR599794,CR600863,CR602419,CR603395,CR605327,CR610733,CR614797,CR615401,CR621926,CR623079,CR624426,CR626796,X90872 NP_059980,EAW84966,EAW84967,EAW84968,AAL35268,AAH01123,CAA62380,Q9BVK6 Hs.279929 HSGP25L2G protein-coding 735335 TMEFF1 transmembrane protein with EGF-like and two follistatin-like domains 1 14563676,12743596,12477932,9730596,8752111 8577 NM_003692,AL353805,AL354917,CH471105,AL831919,BC021991,BC035056,X83961 NP_003683,CAI12543,EAW58936,CAD38580,AAH35056,CAA58791,Q8IYR6,ABM82658,ABM85835 Hs.657066 GDB:9756980 C9orf2|H7365 protein-coding 1318843 TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2 2290485,2290486,2290490,2290489 10903839,10987305,18070176,18059030,17942404,17352030,16619216,16439095,16303743,16234815,15824739,15815621,15489334,15340161,15068392,14702039,12975309,12729735,12477932,12460892,12384516,11668495,11120884,10600548,9373149,8125298 2290485,2290486,2290490,2290489 23671 NM_016192,AC092644,AC098617,AF242221,AF264150,CH471058,CQ840932,AB004064,AB017269,AF179274,AF242222,AK074507,AK074632,AK222691,AL157430,AY358907,BC008973,CR457390,DQ133599,AK054646 NP_057276,AAY14874,AAX88893,AAG49451,AAF91397,EAX10831,EAX10832,CAH05705,BAA90820,BAA87897,AAD55776,AAG49452,BAC11030,BAD96411,CAB75654,AAQ89266,AAH08973,CAG33671,AAZ43216,Q9UIK5 Hs.144513 GDB:10450507 HPP1|TENB2|TPEF|TR protein-coding 1322626 TMEM1 transmembrane protein 1 The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. 1580863 7633421,9196060,15489334,15302935,14702039,12477932,11805826,10830953,9370297,9205129,8889548,8753807 7109 NM_003274,NM_001001723,AB001517,AB001523,CH471079,U61520,AK095010,AL559301,AL833668,BC046241,BC052247,BC071569,BC094823,BC101728,BF979287,BG058078,BM988257,BU733895,BX370317,CR597587,U19252,U61500 NP_003265,NP_001001723,BAA21136,BAA21099,EAX09459,AAB58468,CAI46146,AAH46241,AAH52247,AAH94823,AAI01729,AAC50134,AAC51826,P48553,Q5JPB5,Q76NH5,Q86SI7 Hs.126221 GDB:1320385 EHOC-1|EHOC1|GT334|MGC126777|TRS130 protein-coding 1602475 TMEM100 transmembrane protein 100 12477932,14702039,16344560,15489334 55273 NM_001099640,NM_018286,AC009837,CH471109,AK001832,AK095175,BC010128,BQ027747,CB152959,CR596094,CR601559,CR607494,CR626672,DA579336,DA896013 NP_001093110,NP_060756,EAW94537,EAW94538,EAW94539,BAA91931,AAH10128,Q9NV29 Hs.173233 FLJ10970|FLJ37856 protein-coding 1601840 TMEM101 transmembrane protein 101 12761501,15489334,12477932 84336 AC023855,CH471178,AB097008,AK130810,AK172826,BC007438,CR590675,CR596239,CR597495,CR603006,CR605090,NM_032376,CR617955,CR623205,CR624536,CR625688,CR606769,CR606986,CR609688,CR610516,CR610569,CR611268,CR611622,CR614002,CR614239,CR614500 NP_115752,EAW51641,EAW51642,BAC77361,AAH07438,Q96IK0 Hs.514211 FLJ23987|MGC4251 protein-coding 1604962 TMEM102 transmembrane protein 102 17828305,15489334,15324660,14702039,12477932 284114 NM_178518,AC113189,CH471108,AK094197,BC046189,CR626016 NP_848613,EAW90189,EAW90190,BAC04306,AAH46189,Q8N9M5 Hs.655662 CBAP|FLJ36878 protein-coding 1606547 TMEM103 transmembrane protein 103 15489334,14702039,12477932,9373149 54859 NM_001031703,AC099778,CH471055,AK000218,AK225721,BC000623,BC014204,CR590643,DQ787088 NP_001026873,EAW64827,EAW64828,BAA91017,AAH00623,AAH14204,ABG79574,Q0PNE2 Hs.311100 FLJ20211 protein-coding 1606542 TMEM104 transmembrane protein 104 17081983,15489334,14702039,12477932 54868 NM_017728,AC016888,AC068874,CH471099,AK000262,AK074029,AK291159,AL137521,BC011552,BC037278,CN479614,DN999695 NP_060198,EAW89198,EAW89199,EAW89200,EAW89201,BAA91039,BAB84855,BAF83848,CAB70787,AAH37278,Q8NE00 Hs.370262 FLJ00021|FLJ20255 protein-coding 1602279 TMEM105 transmembrane protein 105 14702039 284186 NM_178520,AC027601,CH471099,AK096111 NP_848615,EAW89647,BAC04703,Q8N8V8 Hs.364191 FLJ38792 protein-coding 1603282 TMEM106A transmembrane protein 106A 15489334,14702039,12477932 113277 NM_145041,AC087365,AC109326,AX083394,CH471152,AK056132,BC012139,BC157892 NP_659478,CAC33297,EAW60954,EAW60955,BAB71101,AAH12139,AAI57893,Q96A25 Hs.567647 MGC20235 protein-coding 1603394 TMEM106B transmembrane protein 106B 17081983,15489334,14702039,12853948,12690205,12477932,9847074,9373149,8125298 54664 NM_018374,AC007321,CH236948,CH471073,AK001834,AK002135,AK090805,AK223263,BC028108,BC033901,BC039741,CR624005 NP_060844,AAQ96840,EAL24296,EAW93638,EAW93639,EAW93640,EAW93641,EAW93642,BAA92099,BAD96983,AAH28108,AAH33901,AAH39741,Q8N353,Q9NUM4 Hs.396358 FLJ11273|MGC33727 protein-coding 1601972 TMEM106C transmembrane protein 106C 15489334,12477932 79022 NM_024056,AC004801,CH471111,BC000854,BC107792,CR591128,CR591541,CR593375,CR600883,CR616427,CR617442,CR618360,CR619115,CR620854,CR623527,CR623552,DQ020163 NP_076961,EAW57965,AAH00854,AAI07793,AAY84826,Q9BVX2 Hs.596726 MGC111210|MGC5576 protein-coding 1603948 TMEM107 transmembrane protein 107 15489334,14702039,12975309,12477932 84314 NM_032354,NM_183065,AC129492,CH471108,AF311338,AK027813,AY358525,BC006292,BC070231,BC127649,BM920977,BU852346 NP_115730,NP_898888,EAW90083,EAW90084,EAW90085,AAK38512,AAQ88889,AAH70231,AAI27650,Q6UX40 Hs.513933 GRVS638|MGC10744|PRO1268 protein-coding 1604309 TMEM108 transmembrane protein 108 11230166,11214970,15489334,14702039,12975309,12477932 66000 NM_023943,AC018472,AC055753,AC079942,AC092984,CH471052,AB051477,AK095050,AL136578,AY358381,BC000568,CR609282,CR618323 NP_076432,EAW79182,EAW79183,EAW79184,BAB21781,CAB66513,AAQ88747,AAH00568,Q6UXF1 Hs.191616 MGC3040 protein-coding 1601968 TMEM109 transmembrane protein 109 15489334,12477932,9110174,8619474 79073 NM_024092,AP003721,CH471076,AF131803,BC001309,CR594505,CR607310,CR609829,CR620717,CR621258 NP_076997,EAW73906,AAH01309,Q9BVC6 Hs.13662 MGC5508 protein-coding 1320357 TMEM11 transmembrane protein 11 The function of putative receptor protein is unknown. 2110658,16189514,15489334,12477932 8834 NM_003876,AC087294,AC087393,CH471210,BC002819,BC005268,BC020815,BC035874,BT006768,CR606340,CR611577,CR618067,CR623488,CR625355,X51804 NP_003867,EAX02598,EAX02599,AAH02819,AAH05268,AAH20815,AAP35414,CAA36102,P17152,Q53YB2 Hs.654713 C17orf35|PM1|PMI protein-coding 1602041 TMEM110 transmembrane protein 110 15489334,12477932 375346 NM_198563,AC099667,CH471055,AY726591,BC022209,BC047015,CR614295,CR625639 NP_940965,EAW65266,AAH47015,Q86TL2 Hs.705605 DKFZp667E1121|MGC52022 protein-coding 1601753 TMEM111 transmembrane protein 111 9373149,8125298,15489334,14702039,12477932,10931946 55831 NM_018447,AC018809,AC022007,CH471055,CQ834268,AF157321,AK172843,AK222953,BC010883,BC022807,CR599078 NP_060917,EAW64047,CAH05349,AAF67487,BAD18807,BAD96673,AAH22807,Q9P0I2 Hs.475392 POB protein-coding 2292465 TMEM114 transmembrane protein 114 17492639 100113401 BC150511 protein-coding 1605401 TMEM115 transmembrane protein 115 16641997,15489334,12477932,11085536,9856955 11070 AC002481,CH471055,Z84492,BC011948,BC017367,NM_007024,BF305563,CR457020,CR592998,CR599068,CR605338,CR624062,U09584 NP_008955,AAB67308,EAW65115,EAW65116,EAW65117,CAM28372,AAH11948,AAH17367,CAG33301,AAA92281,Q12893,Q6IAY4,ABM83032,ABM86226 Hs.91566 PL6 protein-coding 1603287 TMEM116 transmembrane protein 116 15489334,14702039,12477932 89894 CH471054,CQ783530,AK074648,AL833501,BC000282,BC022360,BC048796,BC070135,CR592366,CR612135,NM_138341,AC004024,AC073575 EAW97982,EAW97983,EAW97984,EAW97985,EAW97986,EAW97987,EAW97988,EAW97989,CAF86706,BAC11112,AAH00282,AAH22360,AAH48796,AAH70135,Q8NCL8,Q9BWF8,NP_612350 Hs.506815 FLJ90167 protein-coding 1604277 TMEM117 transmembrane protein 117 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 84216 NM_032256,AC024934,AC025030,AC025253,AC073653,AC076972,AC093012,CH471111,AK057287,AK097511,AL136855,BC016819,BC030284,BC042192,BC060798,CR614846 NP_115632,EAW57871,EAW57872,BAB71411,CAB66789,AAH30284,AAH60798,Q9H0C3,CAL38624 Hs.444668 DKFZp434K2435 protein-coding 1602276 TMEM119 transmembrane protein 119 16303743,15489334,14702039,12975309,12477932 338773 CR611280,CR613428,NM_181724,AC008119,CH471054,CS051333,AK075501,AK097290,AY358389,BC096825 AAH96825,Q4V9L6,NP_859075,EAW97823,CAI72161,BAC11656,AAQ88755 Hs.449718,Hs.690220 protein-coding 1605325 TMEM120A transmembrane protein 120A 12477932 83862 NM_031925,AC006330,CH471220,AF327923,BC029487,BC040694,BC051850,CR590394,CR606386,CR611494,CR614474 NP_114131,EAW71781,EAW71782,EAW71783,EAW71784,EAW71785,EAW71786,EAW71787,EAW71788,AAK16442,AAH29487,AAH51850,Q9BXJ8,ABM81928,ABM85106 Hs.488835 TMPIT protein-coding 1626589 TMEM120B transmembrane protein 120B 12477932 144404 NM_001080825,AC084018,BC035884,BC127768,BC127769 NP_001074294,AAI27769,AAI27770,A0PK00 Hs.709319 protein-coding 1606775 TMEM121 transmembrane protein 121 15489334,12477932,12204283 80757 NM_025268,AL928654,BC004221 NP_079544,AAH04221,Q9BTD3 Hs.157527 MGC4659|hole protein-coding 1605596 TMEM123 transmembrane protein 123 This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. 16344560,16303743,15489334,15340161,12975309,12752121,12477932,11893509,11481458,9600958,9373149,8125298,16189514 114908 NM_052932,AP000942,AP001830,CH471065,CS051231,AJ293406,AK026572,AK075420,AK225790,AL050161,AL110202,AL137643,AY008283,AY157580,AY358696,BC032296,CR598031,DB146474 NP_443164,EAW67019,EAW67020,EAW67021,CAI72111,BAC11610,AAG21694,AAO13164,AAQ89059,AAH32296,Q8N131,ABM82580,ABM85768 Hs.503709,Hs.707514 KCT3|PORIMIN|PORMIN protein-coding 1604757 TMEM125 transmembrane protein 125 15489334,12477932 128218 NM_144626,AC093420,CH471059,BC016858,BC072393,CR596327,CR596378 NP_653227,EAX07110,EAX07111,AAH16858,Q96AQ2 Hs.104476 MGC17299 protein-coding 1604272 TMEM126A transmembrane protein 126A 11256614,16381901,15489336,15489334,12477932,11230166,11076863 84233 NM_032273,AP000642,CH471076,AL136941,BC007875 NP_115649,EAW75102,CAB66875,AAH07875,Q9H061,CAL37734 Hs.533725 DKFZp586C1924 protein-coding 1603632 TMEM126B transmembrane protein 126B 15489334,12477932,10931946 55863 NM_018480,AP000642,CH471076,AF220193,AF246240,AK291150,BC012065,BC017574,BC038933,BC107900,CR612738 NP_060950,EAW75096,EAW75097,EAW75098,EAW75099,EAW75100,EAW75101,AAF67658,AAG44487,BAF83839,AAH12065,AAH17574,AAH38933,AAI07901,Q8IUX1,Q9H2Q3,ABM83211,ABM86411 Hs.525063 HT007|MGC111203 protein-coding 1601991 TMEM127 transmembrane protein 127 15815621,15489334,14702039,12477932,10493829 55654 NM_017849,AC004020,AC012307,AC021188,CH471207,AK000514,AK025910,AL117494,AL117581,BC028575,BC039892,CR599359 NP_060319,AAC23494,AAY24224,EAW71376,EAW71377,EAW71378,EAW71379,BAA91220,BAB15279,AAH28575,AAH39892,O75204,Q9H6I0 Hs.355708 FLJ20507|FLJ22257 protein-coding 1602670 TMEM128 transmembrane protein 128 15489334,14702039,12477932 85013 NM_032927,AC011744,CH471131,AK001453,BC007729,BC091482,CR600962,CR606526,CR621378,CR933611 NP_116316,EAW82440,EAW82441,EAW82442,EAW82443,EAW82444,AAH07729,AAH91482,Q5BJH2,CAI45928 Hs.12845 MGC110944|MGC13159 protein-coding 1606992 TMEM129 transmembrane protein 129 12477932 92305 AC016773,CH471131,NM_138385,NM_001127266,AK098466,BC009331,BC018921,BC126370,CR596458 EAW82569,NP_612394,NP_001120738,EAW82570,EAW82571,EAW82572,EAW82573,AAI26371,A0AVI4 Hs.518562 D4S2561E|FLJ25600 protein-coding 1605559 TMEM130 transmembrane protein 130 16381901,15489336,15489334,12975309,12690205,12477932,11256614,11230166,11076863,9373149,8125298 222865 AC004991,AC095044,CH236956,CH471091,AB072903,AK124634,AK225783,AL832523,AL834348,AL834349,AY358583,NM_152913,BC030793,BC037895 NP_690877,EAL23888,EAW76701,EAW76702,EAW76703,EAW76704,CAD38628,CAD39013,CAD39014,AAQ88946,AAH30793,AAH37895,Q8N3G9,CAL37825,CAL38122,CAL38713,CAL38749 Hs.270753 DKFZp761L1417|FLJ42643 protein-coding 1606821 TMEM131 transmembrane protein 131 17081983,16964243,16344560,12477932,10996388,9039502 23505 NM_015348,AC016699,AC079337,AC092591,AK025852,AK098792,AU132630,BC018018,BC036841,BE327511,BX647728,CR602171,D87446 NP_056163,AAX82007,AAH36841,BAA13387,Q0P631,Q584P2,Q92545,Q9P1A3 Hs.469376 CC28|KIAA0257|PRO1048|RW1|YR-23 protein-coding 1606273 TMEM132A transmembrane protein 132A This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. 16806201,14702039,12514190,12477932,12421765,11524435,10997877 54972 NM_017870,NM_178031,AP003721,CH471076,AB046803,AK000546,AK023577,AL359557,AL834133,BC028106,BC032059,BC114569,CR613429 NP_060340,NP_821174,EAW73908,EAW73909,EAW73910,EAW73911,EAW73912,EAW73913,EAW73914,BAB13409,BAA91245,BAB14613,CAH10668,AAH28106,AAH32059,AAI14570,Q24JP5 Hs.118552 DKFZp547E212|FLJ20539|GBP|HSPA5BP1|MGC138669 protein-coding 1606181 TMEM132B transmembrane protein 132B 14702039,12477932,11572484,11347906 114795 AC004806,AC005146,AC026370,AC073618,AC093028,CH471054,AB058689,AB067493,AK055283,AK090767,AK091512,AK093097,BC113366,BC113368,NM_052907,BC131621,CR735824 NP_443139,EAW98476,EAW98477,EAW98478,BAB47415,BAB67799,BAC04053,AAI13367,AAI13369,AAI31622,Q14DG7 Hs.524838 KIAA1786|KIAA1906 protein-coding 1601730 TMEM132C transmembrane protein 132C 92293 XM_044062,XM_001715575,XM_941994,AC023595,AC061709,AC090424,AC107020,AC126612,AK126715,AL122107,AL831921,AL832160 XP_044062,XP_001715627,XP_947087,CAH10715,CAD38581,Q8N3T6 Hs.49599 DKFZp761O2018 protein-coding 1606177 TMEM132D transmembrane protein 132D 14702039,12966072,12477932,11853319 121256 NM_133448,AC055717,AC079456,AC107033,AC117373,AC117501,AC125635,AC128708,AC130404,AC139767,CH471054,AB061814,AB075824,AK094656,AL833234,BC114626,BC114936 NP_597705,EAW98500,BAB85530,BAC97794,BAC04397,CAD38636,AAI14627,AAI14937,Q14C87 Hs.507268 KIAA1944|MGC138770|MGC138771|MOLT protein-coding 1603364 TMEM132E transmembrane protein 132E 12477932 124842 NM_207313,AC005691,BC018318,BC020591,BN000149 NP_997196,AAH18318,AAH20591,CAD80169,Q6IEE7 Hs.310482 protein-coding 1602316 TMEM133 transmembrane protein 133 There is evidence that this intronless gene is transcribed but the protein is predicted. The gene function is unknown. 15489334,12477932 83935 NM_032021,AP000872,CH471065,AF247167,BC058024,BC093843,BC112050,CR620896 NP_114410,EAW66996,AAG44547,AAH93843,AAI12051,Q9H2Q1 Hs.44004 AD031|MGC138255 protein-coding 1604784 TMEM134 transmembrane protein 134 12477932,9110174,8619474 80194 NM_001078650,NM_025124,NM_001078651,AP003419,CH471076,AK025402,AW249982,AY007143,BC013883,BC051854,BC125134,BG488634,CR601766,CR605177,DN999439 NP_001072118,NP_079400,NP_001072119,EAW74631,EAW74632,EAW74633,EAW74634,EAW74635,EAW74636,BAB15126,AAH13883,AAI25135,Q9H6X4 Hs.288761 FLJ21749|MGC149891 protein-coding 1603382 TMEM135 transmembrane protein 135 12477932,9373149 65084 NM_022918,AP000811,AP001102,AP002967,CH471076,AK000684,AK024853,AK025757,AK225364,AK291804,AL834493,BC012553,BC030952,BC051462,BX648678 NP_075069,EAW75148,EAW75149,EAW75150,BAB15233,BAF84493,CAD39151,AAH12553,AAH30952,AAH51462,CAH10546,Q7Z760,Q86UB9,Q8N605 Hs.188591 DKFZp686I1974|FLJ22104 protein-coding 1603164 TMEM136 transmembrane protein 136 12477932 219902 AK128040,AK289680,BC015232,NM_174926,AP001150,CH471065 EAW67505,EAW67506,BAC87244,BAF82369,AAH15232,Q6ZRR5,NP_777586 Hs.706896 MGC17839 protein-coding 1604817 TMEM138 transmembrane protein 138 14702039,12477932,11042152 51524 NM_016464,AP003108,CH471076,AF151030,AF151032,AK027724,BC005201,CR596588,CR598619,CR602992,AL832879 NP_057548,EAW73943,AAF36116,AAF36118,AAH05201,Q9NPI0,CAI46174,ABM83437,ABM86651 Hs.406530 HSPC196 protein-coding 1602298 TMEM139 transmembrane protein 139 16303743,15231748,12975309,12690205,12477932 135932 AC073342,CH236959,NM_153345,CH471198,AK075067,AK172816,AY358781,BC016719,BC035517,BC035888,BC048333 NP_699176,EAL23784,EAW51871,EAW51872,EAW51873,EAW51874,EAW51875,BAC11382,BAD18786,AAQ89141,AAH16719,AAH35517,Q8IV31 Hs.17558 FLJ90586 protein-coding 1605364 TMEM140 transmembrane protein 140 15489334,14702039,12690205,12477932,9373149,8125298 55281 NM_018295,AC083862,CH236950,CH471070,AK001862,AK225055,BC020942,CR597549,CR598469,CR603717,CR608299,CR608312,CR613329,CR623230,CR625239 NP_060765,EAL24065,EAW83839,BAA91948,AAH20942,Q96FW3,Q9NV12 Hs.658637 FLJ11000 protein-coding 1602669 TMEM141 transmembrane protein 141 15489334,15164053,12477932,8889548 85014 NM_032928,AL355987,CH471090,BC007834,BU740670,CB107060,CR613672 NP_116317,CAI12679,EAW88277,AAH07834,Q96I45 Hs.356744 MGC14141|RP11-216L13.7 protein-coding 1602477 TMEM143 transmembrane protein 143 12975309,11256614,12477932 55260 NM_018273,AC008392,AC011514,AC020955,CH471177,AK129801,AK291521,AY358161,BC016919,BC040021 NP_060743,EAW52335,EAW52336,EAW52337,EAW52338,BAF84210,AAQ88528,AAH16919,Q96AN5 Hs.351335 FLJ10922 protein-coding 1605072 TMEM144 transmembrane protein 144 14702039,12477932 55314 NM_018342,AC098679,CH471056,AK002017,BC026318,BC035811,BC036551,BC048117,BC050297,BC054487,BC060875 NP_060812,EAX04858,EAX04859,EAX04860,EAX04861,EAX04862,BAA92037,AAH36551,AAH48117,AAH54487,AAH60875,Q7Z5S9 Hs.176227 FLJ11155 protein-coding 1602052 TMEM145 transmembrane protein 145 16344560,16303743,14702039 284339 NM_173633,AC024078,CH471126,CQ783419,AK075286,DA694683 NP_775904,EAW57128,EAW57129,EAW57130,CAF86623,BAC11522,Q8NBT3 Hs.382075 FLJ90805 protein-coding 1604493 TMEM146 transmembrane protein 146 12477932 257062 NM_152784,AC011499,CH471139,AK128088,BC031233,BC043005 NP_689997,EAW69148,EAW69149,EAW69150,BAC87268,AAH31233,AAH43005,Q86XM0,Q8NEF4 Hs.631842 MGC39581 protein-coding 1607077 TMEM147 transmembrane protein 147 14667819,16189514,15489334,12477932 10430 NM_032635,AC002389,BC001118,CR600620,CR601646,CR605779,CR607776,CR615520,CR619832,Y18007 NP_116024,AAH01118,CAA77013,Q9BVK8 Hs.9234 MGC1936|NIFIE14 protein-coding 1605956 TMEM149 transmembrane protein 149 12477932 79713 NM_024660,AD000671,AK026226,BC031329,BC126481,BC126483 NP_078936,BAB15400,AAH31329,AAI26482,AAI26484,Q9H665 Hs.352548 FLJ22573|U2AF1L4 protein-coding 1317058 TMEM14A transmembrane protein 14A 1580863 15489334,14574404,12477932 28978 AF239771,BC015097,BC019328,CB117714,CR618706,NM_014051,AL109918,CH471081,CS072353,AF078864 AAF59948,AAH15097,AAH19328,Q9Y6G1,NP_054770,CAB92769,EAX04379,EAX04380,EAX04381,CAI93491,AAD44496 Hs.94896 C6orf73|PTD011 protein-coding 1344544 TMEM14B transmembrane protein 14B 1580863 15489334,12477932 81853 NM_030969,AL024498,CH471087,AK291883,BC001033,BC007080,BC013913,BC071660,CR622176,CR623943 NP_112231,CAB75822,CAI20519,EAW55276,EAW55277,EAW55278,EAW55279,EAW55280,EAW55281,BAF84572,AAH01033,AAH07080,AAH13913,AAH71660,Q5THN8,Q9NUH8 Hs.273077 MGC1223 protein-coding 1313920 TMEM14C transmembrane protein 14C 737633,1580863 15489334,12958361,12477932,11042152,9373149,8125298 737633 51522 AF151028,AF164962,AK223462,BC002496,BC010086,CR593270,CR594179,CR602451,CR608762,CR608848,CR618403,CR621789,CR625322,CR626312,CR626492,NM_016462,AL358777,CH471087 EAW55272,EAW55273,EAW55274,EAW55275,AAF36114,AAQ13593,BAD97182,AAH02496,AAH10086,Q53F27,Q5T4I6,Q7Z2T3,Q9P0S9,ABM83488,ABM86703,NP_057546,CAI14003,EAW55271 Hs.519557 C6orf53|HSPC194|MSTP073|NET26|bA421M1.6 protein-coding 1353543 TMEM14D transmembrane protein 14D 645203 XM_928242,AL713888 XP_933335 bA524O24.3 protein-coding 1605297 TMEM150 transmembrane protein 150 11230166,11076863,10858565,16381901,15815621,15489336,15489334,14702039,12477932 129303 NM_153342,NM_001031738,AC016753,CH471053,CQ782434,AK074505,AK098152,AK291879,BC050466,BX647409,CR590255,CR595341,CR600054,CR614257 NP_699173,NP_001026908,AAY24344,EAW99496,EAW99497,EAW99498,EAW99499,EAW99500,EAW99501,EAW99502,EAW99503,CAF85721,BAC11029,BAF84568,AAH50466,Q0JVQ8,Q86TG1,CAL37402 Hs.591559 FLJ90024|TM6P1 protein-coding 1606118 TMEM151A transmembrane protein 151A 15489334,12477932 256472 NM_153266,AP001107,CH471076,AL834459,BC033898,BC035477 NP_694998,EAW74510,CAD39119,AAH33898,Q8N4L1 Hs.399779 MGC33486|TMEM151 protein-coding 1350981 TMEM151B transmembrane protein 151B 14702039,7894479 441151 XM_001725716,XM_001723740,XM_001723534,AL139392,AL353588,AK094365,AK124502,AK126839,L35592 XP_001725768,XP_001723792,XP_001723586,CAI20104,CAI20105,CAI40748,BAC86716,Q6ZT78,Q8IW70 Hs.632851 C6orf137|FLJ37046|FLJ42511|FLJ44891|TMEM193|bA444E17.5 protein-coding 1603167 TMEM154 transmembrane protein 154 14702039,12477932 201799 NM_152680,AC106882,CH471056,AK056590,BC019600,BC060775 NP_689893,EAX04974,EAX04975,BAB71226,AAH19600,AAH60775,Q6P9G4 Hs.518900 FLJ32028 protein-coding 1604239 TMEM155 transmembrane protein 155 16344560,15815621,15489334,14702039,12477932 132332 Q4W5P6 NM_152399,DA176165,AC079341,CH471056,AK055396,BC047657,BC059365,BI757990,CR608317 Q4W5P6,NP_689612,AAY40967,EAX05253,EAX05254,EAX05255,BAB70915,AAH47657 Hs.27524 FLJ30834 protein-coding 1605045 TMEM156 transmembrane protein 156 12477932 80008 AK026888,BC030803,BC060512,NM_024943,AC079921,CH471069 EAW92907,BAB15583,AAH30803,Q8N614,NP_079219,EAW92905,EAW92906 Hs.374147 FLJ23235 protein-coding 1601696 TMEM157 transmembrane protein 157 15489334,12975309,12477932 345757 NM_198507,AC021086,CH471086,AF529367,AK289539,AY359108,BC027332,CR601145 NP_940909,EAW49106,AAQ09601,BAF82228,AAQ89466,AAH27332,Q8TBP5 Hs.356108 MGC17345|UNQ1912 protein-coding 733049 TMEM158 transmembrane protein 158 Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. 16737913,16575872,16280139,16083501,15486950,12477932,11822868,11399754 25907 NM_015444,AC010170,CH471055,AB078417,AF438313,AL080235,BC057390,BQ000094,BU627971,BX401325,BX459891,CR591255,CR593631,CR615050,CR621614 NP_056259,EAW64739,BAC05687,AAL30845,CAB45781,AAH57390,Q8WZ71 Hs.35861 BBP|DKFZp586E1621|RIS1|p40BBP protein-coding 1601747 TMEM159 transmembrane protein 159 16303743,15589683,12477932,12401792,9110174,8619474 57146 NM_020422,AC008551,AF001550,CH471228,CQ783556,AF070596,AK074667,AY212918,BC015812,BX647512,CR596615 NP_065155,AAB67598,EAW66854,EAW66855,EAW66856,EAW66857,EAW66858,CAF86723,BAC11122,AAO52682,AAH15812,Q96B96 Hs.258212 PROMETHIN protein-coding 1606276 TMEM160 transmembrane protein 160 15489334,14702039,12477932 54958 NM_017854,AK000519,BC002907,AC008755,CH471126 BAA91225,AAH02907,Q9NX00,NP_060324,EAW57455 Hs.105606 FLJ20512 protein-coding 1603037 TMEM161A transmembrane protein 161A 16551573,14702039,12975309,12477932,9373149,8125298 54929 AY358088,BC005210,BC016478,CR592471,CR595363,CR597925,CR600373,CR602314,CR602833,CR610030,CR610922,CR614146,CR615333,CR620031,CR623611,CR624962,NM_017814,AC002126,CH471106,AK000429,AK096964,AK225424 AAQ88455,AAH05210,AAH16478,Q9NX61,NP_060284,EAW84780,EAW84781,EAW84782,EAW84783,EAW84784,EAW84785,EAW84786,EAW84787,BAA91159 Hs.631629 AROS-29|FLJ20422|FLJ39645 protein-coding 1603558 TMEM161B transmembrane protein 161B 12975309,12477932 153396 NM_153354,AC010243,CH471084,AY358693,BC037287,BM479365,BX647345,BX648757,CR595175,DW443954 NP_699185,EAW95937,EAW95938,EAW95939,EAW95940,EAW95941,EAW95942,EAW95943,AAQ89056,AAH37287,CAI56713,Q8NDZ6,ABM86543,ABW03664 Hs.379972 FLB3342|MGC33214|PRO1313 protein-coding 1603571 TMEM162 transmembrane protein 162 12477932 148109 NM_152481,AC002128,AK098526,BC039080,BC117457,BC117459 NP_689694,BAC05322,AAI17458,AAI17460,Q17R55 Hs.128069 FLJ25660 protein-coding 1604280 TMEM163 transmembrane protein 163 17623043,15815621,15489334,12477932 81615 NM_030923,AC013718,AC093892,AC110620,CH471058,AF255647,AL122044,AL833765,BC026170 NP_112185,AAX93249,AAY24144,EAX11653,EAX11654,AAG44635,CAB59180,CAH10592,AAH26170,Q8TC26,Q9H2N0 Hs.369471 DC29|DKFZP566N034|DKFZp666J217|SV31 protein-coding 1604569 TMEM164 transmembrane protein 164 15772651,15489334,14702039,12477932 84187 NM_032227,AL359079,AL360224,CH471120,AK000180,AK026332,AK057084,AK094127,BC002716,BC085605 NP_115603,EAX02665,EAX02666,EAX02667,EAX02668,BAA90993,BAB15450,AAH85605,Q5U3C3,Q9H617,Q9NXL7 Hs.496572,Hs.659535 FLJ20173|FLJ22679|RP13-360B22.2|bB360B22.3 protein-coding 1601750 TMEM165 transmembrane protein 165 15489334,14702039,12477932,10931946,3202867 55858 NM_018475,AC069200,CH471057,AF132746,AF183409,AF220188,AK026163,AK027162,AK054712,AK055076,AK290663,BC003545,BC104978,BC104980,BC107582,CR603840 NP_060945,EAX05467,AAL75947,AAG09678,AAF67653,BAF83352,AAH03545,AAI04979,AAI04981,AAI07583,Q9HC07 Hs.479766 TMPT27|TPARL protein-coding 1604577 TMEM166 transmembrane protein 166 17492404,15815621,15498874,15489334,14702039,12477932 84141 NM_032181,AC007099,CH471053,AF177337,AK023453,BC016157,BC063016,CR457314,CR615454 NP_115557,AAY14774,EAW99591,EAW99592,EAW99593,EAW99594,AAG17981,BAB14580,AAH16157,AAH63016,CAG33595,Q9H8M9 Hs.302346 FLJ13391 protein-coding 1603559 TMEM167 transmembrane protein 167 15489334,14702039,12477932,1316117 153339 NM_174909,AC022416,CH471084,AK000174,AK055070,AK055612,BC026285,BC028585,BC070122,BC107575,BX647979,CR590885,CR600809 NP_777569,EAW95896,AAH26285,AAH28585,AAI07576,Q8TBQ9 Hs.355606 DKFZp686I1152|FLJ30508|MGC23909 protein-coding 1605052 TMEM168 transmembrane protein 168 11256614,16344560,15146197,14702039,12477932,9847074 64418 NM_022484,AC079621,CH236947,CH471070,AK023638,AK025482,AL136626,BC030804,BX421826,CN256103,DA116574 NP_071929,AAQ96836,EAL24373,EAW83470,EAW83471,EAW83472,BAB14624,CAB66561,AAH30804,Q0JTC2,Q9H0V1 Hs.121847 DKFZp564C012|FLJ13576 protein-coding 1602990 TMEM169 transmembrane protein 169 15815621,15489334,14702039,12477932 92691 NM_138390,AC010686,CH471063,AK091582,AK172731,BC008604,CR933667 NP_612399,AAY14658,EAW70559,EAW70560,EAW70561,BAC03700,AAH08604,CAI45964,Q96HH4 Hs.334916 DKFZp781L2456|FLJ34263 protein-coding 1321890 TMEM16A transmembrane protein 16A 737633 15067359,14702039,12739008,12477932 737633 55107 NM_018043,AP000879,CH471076,AK001123,AK097619,AK293088,AL833582,AY728143,BC027590,BC033036,CF593428 NP_060513,EAW74757,EAW74758,EAW74759,BAA91513,BAC05123,BAF85777,AAU82085,AAH27590,AAH33036,Q5XXA6,Q8NCT7,Q9NW72 Hs.503074 FLJ10261|ORAOV2|TAOS2 protein-coding 1352763 TMEM16B transmembrane protein 16B 1580863 17371490,15067359,14702039,12739008 57101 NM_020373,AC006431,AC006560,AC137627,CH471116,AJ272204,AK024010,AL137419 NP_065106,EAW88819,EAW88820,EAW88821,CAC01125,BAB14773,CAH10704,Q69YW4,Q9H847,Q9NQ90,AAI52769 Hs.148970 C12orf3|DKFZp434P102 protein-coding 1318896 TMEM16C transmembrane protein 16C 1580863 16344560,15067359,12739008 63982 NM_031418,AC021698,AC036114,AC079064,AC083755,CH471064,AJ300461,BQ430769,DA247850,X81896 NP_113606,EAW68296,CAC32454,Q9BYT9 Hs.91791 C11orf25|GENX-3947 protein-coding 1321043 TMEM16D transmembrane protein 16D 15067359,14702039,12739008,12477932 121601 NM_178826,AC063947,AC079953,AC125628,AC127893,AC138360,CH471054,AK091540,AK091591,AK092596,BC109308 NP_849148,EAW97645,EAW97646,EAW97647,BAC03688,BAC03704,BAC03924,AAI09309,Q32M45 Hs.58785 FLJ34221|FLJ34272|FLJ35277|MGC130026 protein-coding 1342534 TMEM16E transmembrane protein 16E 15457408,15124103,15067359,14702039 203859 NM_213599,AC104009,AC107886,CH471064,AB125267,AK092680,AK125046,AL832374,AL833271 NP_998764,EAW68325,BAD17859,Q75V66,AAI56326 Hs.154329 GDD1 protein-coding 1312398 TMEM16F transmembrane protein 16F 15489334,15067359,14702039,12477932 196527 NM_001025356,AC009248,AC009778,AC063924,AK095979,AK126409,AL832340,AL833405,BC042383,BC063576,BC073891,BC098410 NP_001020527,CAD38638,AAH98410,Q4KMQ2 Hs.696326 MGC104751 protein-coding 1351029 TMEM16G transmembrane protein 16G 1303974 14981236,15761874,15375614,14702039,12477932,12107412,10613842 1303974 50636 NM_001001891,NM_001001666,AC005237,AC104841,AC111201,AK057322,AY617079,AY617080,BC028162,BC038852,BC047903,CD672346,CR607745 NP_001001891,NP_001001666,AAT40139,AAT40140,AAH28162,Q6IWH7,Q8N348,AAI56325,AAI57070 Hs.163909 D-TMPP|IPCA-5|IPCA5|NGEP|PCANAP5|PCANAP5L protein-coding 1349559 TMEM16H transmembrane protein 16H 15647853,12477932,10997877 57719 NM_020959,AC010463,CH471106,AB046843,BC037307,CR616031 NP_066010,EAW84595,EAW84596,BAB13449,Q9HCE9 Hs.590990 KIAA1623 protein-coding 1345920 TMEM16J transmembrane protein 16J 16344560,15202010,14702039,12477932,9305847 338440 NM_001012302,AC138230,CH471158,CQ834410,CQ834594,AI986229,AK026923,AK074088,AK096874,AL832289,BC047946,BC128557,DB140066,U33271 EAX02326,NP_001012302,CAH05420,CAH05512,BAB84914,AAI28558,A1A5B4 Hs.501622 PIG5|TP53I5 tumor protein p53 inducible protein 5 protein-coding 1605667 TMEM16K transmembrane protein 16K 14702039,12477932 55129 NM_018075,AC097638,AC104184,AC105903,AC135852,CH471055,AA252209,AK096302,AK131223,AK292368,AL832508,BC038855 NP_060545,EAW64695,EAW64696,EAW64697,EAW64698,BAF85057,AAH38855,Q9NW15,AAI56279,AAI57062 Hs.656657 FLJ10375|MGC47890 protein-coding 1602957 TMEM16M transmembrane protein 16M 343531 AL109627 CAI22565,Q5TEV4 protein-coding 1321545 TMEM17 transmembrane protein 17 737633 15815621,15489334,14702039,12477932 737633 200728 NM_198276,AC093159,AC107083,CH471053,AK091902,AK124081,BC047439 NP_938017,AAY24170,AAY24048,EAW99975,AAH47439,Q86X19 Hs.308028 FLJ34583 protein-coding 1604539 TMEM170 transmembrane protein 170 14702039,12477932 124491 NM_145254,AC009163,CH471114,AK094930,AY302139,BC018082,BX647432,BX648429,BX648484 NP_660297,EAW95642,EAW95643,EAW95644,AAP57631,AAH18082,Q8WVE7 Hs.487510 FLJ37611 protein-coding 1606157 TMEM171 transmembrane protein 171 15489334,12477932,12044878 134285 NM_173490,AB083614,AC116345,CH471084,BC018083,BC035310 NP_775761,BAB89327,EAW95717,EAW95718,AAH18083,AAH35310,Q8WVE6 Hs.162246 PRP2 protein-coding 1602274 TMEM173 transmembrane protein 173 15489334,14702039,12477932 340061 NM_198282,AC138517,CH471062,AK095896,AK290661,BC047779 NP_938023,EAW62098,EAW62099,EAW62100,BAF83350,AAH47779,Q86WV6 Hs.379754 FLJ38577 protein-coding 1606156 TMEM174 transmembrane protein 174 15489334,14702039,12477932 134288 NM_153217,AC116345,CH471084,AK055830,BC019346 NP_694949,EAW95719,EAW95720,BAB71025,AAH19346,Q8WUU8 Hs.508588 FLJ31268|MGC13034 protein-coding 1604263 TMEM175 transmembrane protein 175 15489334,14702039,12477932 84286 AC019103,CH471131,AK090848,AL834199,BC005158,BC047738,BC063488,BC095416,CR599425,CR617696,CR619221,CR619330,CR622533,NM_032326 ABM87163,NP_115702,EAW82633,EAW82634,EAW82635,EAW82636,EAW82637,EAW82638,EAW82639,EAW82640,EAW82641,EAW82642,EAW82643,CAD38888,AAH05158,Q9BSA9,ABM83841 Hs.478936 MGC4618 protein-coding 1602320 TMEM176A transmembrane protein 176A 15489334,12853948,12690205,12477932,12097419,11967007,8889548 55365 NM_018487,AACC02000108,AC006479,CH471173,AF258340,BC008303,BM663079,CR597401,CR609068,CR610177,CR610583,CR618934 NP_060957,EAL24489,AAP21884,EAW54088,EAW54089,EAW54090,EAW54091,AAF68667,AAH08303,Q96HP8 Hs.647116 GS188|HCA112 protein-coding 1606306 TMEM176B transmembrane protein 176B 9922225,16095493,15489334,15342556,14702039,12477932,11967007 28959 BC014586,BC091471,BF511290,BI759037,BI761752,BI910761,BP298052,CR608087,CR610447,DQ144974,R95048,AACC02000108,AC006479,CH471173,AF115384,AK000841,AK097304,AK129525,BC004358,NM_014020,NM_001101314,NM_001101312,NM_001101311,NM_001101313 AAH04358,AAH14586,AAH91471,AAZ75648,Q3YBM2,NP_001094783,EAL24488,EAW54076,EAW54077,EAW54078,EAW54079,EAW54080,AAD23440,NP_054739,NP_001094784,NP_001094782,NP_001094781 Hs.647090 FLJ26014|LR8|MGC110857 protein-coding 1606772 TMEM177 transmembrane protein 177 15815621,15489334,12477932,15146197,14702039 80775 NM_001105198,NM_030577,NM_001105199,AC069154,CH471103,AA243057,AK096890,AK130088,AW027286,BC004404,BG280893,BG776153,CN258689 NP_001098668,NP_085054,NP_001098669,AAY24148,EAW95225,EAW95226,EAW95227,EAW95228,AAH04404,Q53S58 Hs.439991 MGC10993 protein-coding 1602302 TMEM178 transmembrane protein 178 16303743,12975309,12477932 130733 NM_152390,AC007246,CH471053,AK075440,AY358773,BC029530,CR597741,CR617129 NP_689603,AAX93064,EAX00343,EAX00344,BAC11622,AAQ89133,AAH29530,Q8NBL3,ABM81922 Hs.40808 MGC33926 protein-coding 1346739 TMEM179 transmembrane protein 179 14702039,12508121 388021 NM_207379,XM_001717234,BX927359,CH471061,AK124477 NP_997262,XP_001717286,EAW81867,EAW81868,EAW81869,BAC85860,Q6ZVK1,AAI46361,AAI48845 Hs.655004 C14orf90|FLJ42486|TMEM179A chromosome 14 open reading frame 90 protein-coding 1601691 TMEM179B transmembrane protein 179B 12477932,11053263,8889548 374395 AP001160,CH471076,BC051355,BE439533,NM_199337,BM684628 EAW74098,EAW74099,EAW74100,AAH51355,Q7Z7N9,NP_955369 Hs.381134 protein-coding 1344776 TMEM18 transmembrane protein 18 737633 12477932 737633 129787 NM_152834,AC092159,CH471053,AK125009,AL137269,BC016010,BC032379,BC040373,CR618405 NP_690047,AAY14770,EAX01097,EAX01098,EAX01099,EAX01100,EAX01101,CAB70668,AAH16010,AAH32379,Q96B42 Hs.43899 DKFZp434C1714 protein-coding 1319594 TMEM180 transmembrane protein 180 737633 15489334,15164054,14702039,12975309,12477932 737633 79847 NM_024789,AL121928,CH471066,AK026182,AY358808,BC057787,BC067530,BC067531,BC113589,BG830198 NP_079065,EAW49689,BAB15385,AAQ89168,AAH57787,AAH67530,AAH67531,AAI13590,Q14CX5,Q6UWF4 Hs.309069 C10orf77|FLJ22529|RP11-18I14.8|bA18I14.8 chromosome 10 open reading frame 77 protein-coding 1350892 TMEM181 transmembrane protein 181 1580863 17081983,16452613,15790807,14574404,12477932,10718198 57583 NM_020823,AL590242,AL591025,AB037844,AJ420476,AJ420523,AL359569,AY927471,AY927472,BC033450,BC044210,BC046100,BC058328,BC067769,BC092402,BC108681 NP_065874,CAH70179,BAA92661,AAH33450,Q8N4V6,Q9P2C4 Hs.99145 GPR178|KIAA1423 protein-coding 1604752 TMEM182 transmembrane protein 182 14702039,12975309,12477932 130827 NM_144632,AC007251,CH471127,AK054856,AK129862,AL832688,AY358262,BC020898,BC073844,BC107694,BC130306,BC130308,CR936731,CR936732,CR936735 NP_653233,AAY14911,EAX01785,EAX01786,BAB70815,BAC85244,AAQ88629,AAH20898,AAH73844,AAI07695,AAI30307,AAI30309,Q0JU04,Q0JUQ6,Q0JUZ6,Q6ZP80 Hs.436203 DKFZp779G1758|DKFZp779K1556|DKFZp779M1870|FLJ30294 protein-coding 1320480 TMEM183A transmembrane protein 183A 17613536,16644869,15489334,12477932,9110174,8619474 92703 NM_138391,AC096632,CH471067,DQ186343,AF070537,AK291426,AL133052,BC013073,BC038952,BC067775,CR591161,CR597961,CR604212,CR609677,CR615855,CR617405,CR617512 NP_612400,EAW91456,EAW91457,EAW91458,ABA18928,BAF84115,AAH13073,AAH38952,AAH67775,Q8IXX5 Hs.497443 C1orf37 chromosome 1 open reading frame 37 protein-coding 1604123 TMEM183B transmembrane protein 183B This locus was thought to represent a pseudogene of chromosome 1 open reading frame 37 because it is intronless and retains a polyA tail at the 3' end. It does however contain a complete open reading frame that subsequenct research has demonstrated to be transcribed in a limited number of human tissues. The encoded protein may represent a transmembrane protein associated with cell membranes and be involved in cell-cell or cell-environment interactions. 16644869 653659 NM_001079809,AC117395,CH471052,DQ186292,DQ186293,DQ186294,DQ186295,DQ186296,DQ186297,DQ186298,DQ186299,DQ186300,DQ186301,DQ186302,DQ186303,DQ186312,DQ186313,DQ186314,DQ186315,DQ186316,DQ186317,DQ186318,DQ186319,DQ186304,DQ186305,DQ186306,DQ186307,DQ186308,DQ186309,DQ186310,DQ186311,DQ186320,DQ186321,DQ186322,DQ186323,DQ186324,DQ186325,DQ186326,DQ186327,DQ186328,DQ186329,DQ186330,DQ186331,DQ186332,DQ186333,DQ186335,DQ186336,DQ186337,DQ186338,DQ186339,DQ186340,DQ186334,DQ186341,DQ186342,DQ186344,DQ186345,DQ186346,DQ186347,DQ186348,DQ186349,DQ186350,DQ186351,DQ186352,DQ186353,DQ186354,DQ186355,DQ186356,DQ186357,DQ186358,DQ186359,DQ186360,DQ186361,DQ186362,DQ186363,DQ186364,DQ186365,DQ186366,DQ186367,DQ186368,DQ186397,DQ186398,DQ186399,DQ186400,DQ186401,DQ186402,DQ186403,DQ186404,DQ186405,DQ186406,DQ186407,DQ186408,DQ186409,DQ186410,DQ186411,DQ186412,DQ186413,DQ186370,DQ186371,DQ186372,DQ186373,DQ186374,DQ186375,DQ186376,DQ186377,DQ186378,DQ186379,DQ186380,DQ186381,DQ186382,DQ186383,DQ186384,DQ186385,DQ186386,DQ186387,DQ186369,DQ186388,DQ186389,DQ186390,DQ186391,DQ186392,DQ186393,DQ186394,DQ186395,DQ186396 NP_001073277,EAW78847,ABA18877,ABA18878,ABA18879,ABA18880,ABA18881,ABA18882,ABA18883,ABA18884,ABA18886,ABA18887,ABA18897,ABA18898,ABA18899,ABA18900,ABA18901,ABA18902,ABA18903,ABA18904,ABA18888,ABA18889,ABA18890,ABA18891,ABA18892,ABA18893,ABA18894,ABA18895,ABA18896,ABA18885,ABA18905,ABA18906,ABA18907,ABA18908,ABA18909,ABA18910,ABA18911,ABA18912,ABA18913,ABA18914,ABA18915,ABA18916,ABA18917,ABA18918,ABA18919,ABA18920,ABA18921,ABA18922,ABA18923,ABA18924,ABA18925,ABA18926,ABA18927,ABA18929,ABA18930,ABA18931,ABA18932,ABA18933,ABA18934,ABA18935,ABA18936,ABA18937,ABA18938,ABA18939,ABA18940,ABA18941,ABA18942,ABA18943,ABA18944,ABA18945,ABA18946,ABA18947,ABA18948,ABA18949,ABA18950,ABA18951,ABA18952,ABA18953,ABA18982,ABA18983,ABA18984,ABA18985,ABA18986,ABA18987,ABA18988,ABA18989,ABA18990,ABA18991,ABA18992,ABA18993,ABA18994,ABA18995,ABA18996,ABA18997,ABA18998,Q1AE95,ABA18981,ABA18954,ABA18955,ABA18956,ABA18957,ABA18958,ABA18959,ABA18960,ABA18961,ABA18962,ABA18963,ABA18964,ABA18965,ABA18966,ABA18967,ABA18968,ABA18969,ABA18970,ABA18971,ABA18972,ABA18973,ABA18974,ABA18975,ABA18976,ABA18977,ABA18978,ABA18979,ABA18980 Hs.654748 C1orf37-DUP protein-coding 1603256 TMEM184A transmembrane protein 184A 16344560,14702039,12690205,12477932,8889548 202915 NM_001097620,AC093734,CH471144,AK075043,AK096790,AK096817,AK126312,AK172850,BC026694,BM981655,CR625853,DB215831 NP_001091089,EAW87210,EAW87211,BAC11370,BAC04867,BAC86522,BAD18814,AAH26694,Q6ZMB5,Q8N2J0 Hs.592174,Hs.707784 FLJ24011|MGC9712 protein-coding 1315295 TMEM184B transmembrane protein 184B 17081983,16303743,15489334,15461802,14702039,12761501,12477932,10591208 25829 CR456413,CR627445,CR749859,BX648345,NM_012264,AL020993,AL021977,CH471095,AB097053,AK075417,AK095109,AK292652,AL096879,AL117649,BC012983,BC015489,BE243327 CAH56159,CAG30299,CAH10529,Q1MTS2,Q1MTS3,Q6AHY5,Q9Y519,CAK54404,CAK54703,NP_036396,CAI21955,CAQ10209,CAI17981,EAW60222,EAW60223,EAW60224,EAW60225,EAW60226,BAC77406,BAC11607,BAF85341,CAB51403,AAH15489 Hs.182626 GDB:11504782 C22orf5|DKFZP586A1024|DKFZp686F07174|DKFZp686N1150|FM08|HS5O6A protein-coding 1347995 TMEM185A transmembrane protein 185A 1580863 15525354,15489334,14702039,12477932,12404111 84548 NM_032508,AC016940,CH471169,AF353675,AF530473,AK096308,AK097391,AK128688,BC013793,BC022405,BC103820,BC103821,BC103822 NP_115897,EAW99367,EAW99368,EAW99369,AAK39521,AAM94598,BAC05031,AAH13793,AAH22405,AAI03821,AAI03822,AAI03823,Q3MI96,Q8NFB2,Q8TCB3 Hs.522172 CXorf13|FAM11A|MGC118844|MGC118845 family with sequence similarity 11, member a protein-coding 1625808 TMEM185AL transmembrane protein 185A-like 548322 AC016939 FAM11C protein-coding 1345380 TMEM185B transmembrane protein 185B (pseudogene) 1580863 15489334,14702039,12477932,12404111,15525354 79134 NR_000034,AC012363,AF530474,AK024632,BC016849,BC080607,CR595954,CR626230 AAY14799,AAH80607,Q9H7F4 Hs.376722 FAM11B|FLJ20979 pseudo 1604027 TMEM186 transmembrane protein 186 11256614,14702039,12477932,11230166,9373149,8125298 25880 NM_015421,AC012173,CH471112,AK093383,AL080088,BC015912,CR603758,AK225638 NP_056236,EAW85205,EAW85206,CAB45703,AAH15912,Q96B77 Hs.513330 C16orf51|DKFZP564K2062 protein-coding 1354491 TMEM187 transmembrane protein 187 11256614,15489334,12477932,8786131,8661027 8269 NM_003492,CH471172,CQ834240,AI355489,BC008203,BC017026,CR457047,CR598778,CR598856,CR613909,CR614641,X92475 NP_003483,EAW72766,CAH05335,AAH08203,AAH17026,CAG33328,CAA63213,Q0JT34,Q14656 Hs.23119,Hs.708433 GDB:9954665 CXorf12|DXS9878E|ITBA1 chromosome x open reading frame 12 protein-coding 1603875 TMEM188 transmembrane protein 188 14702039,12477932 255919 NM_153261,AC007610,CH471092,AF086322,AK095420,BC022550,BC036683,CR933600 NP_694993,EAW82738,EAW82739,EAW82740,EAW82741,BAC04545,AAH22550,AAH36683,CAI45924,Q8N9A8 Hs.59134 C16orf69|DKFZp313D2416|FLJ38101 protein-coding 1603242 TMEM189 transmembrane protein 189 Co-transcription of this gene and the neighboring downstream gene (UBE2V1) generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. The product of the Kua gene has UEV1 B domains but this protein is localized to the cytoplasm rather than to the nucleus. 14702039,12477932,11280764,11076860,11076848 387521 NM_199129,AL034423,CQ834902,AB044550,AF155120,AK023028,BC018893,BC142966,CR590901,CR591292,CR596657,CR601155,CR607429,CR614759 A5PLL7,Q5TGE2,AAI40090,AAI43092,NP_954580,CAI19384,CAH05666,BAB18652,AAF08702,BAB14364,AAI42967 Hs.420529,Hs.696710 Kua|UBE2V1 protein-coding 1603241 TMEM189-UBE2V1 TMEM189-UBE2V1 The Kua-UEV mRNA is an infrequent but naturally occurring co-transcribed product of the neighboring Kua and UBE2V1 genes. Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. Two alternative transcripts encoding different isoforms have been described. The proteins produced by these transcripts have UEV1 B domains but the proteins are localized to the cytoplasm rather than to the nucleus. The significance of these co-transcribed mRNAs and the function of their protein products have not yet been determined. 16236267,12481031,11076860,11076848,11057907,10089880,9771976,9705497,9418904,9305758,8889548 387522 NM_199203,NM_003349,AL034423,BF982644,BG723381,BI838424,BM556348,BQ010001,BQ223768,BT007382,BU156219,BU619725,BU860198,CF145300,U39361 NP_954673,NP_003340,CAB76864,CAC16955,AAP36046,AAB72016,Q5TGE3 Hs.420529 CROC-1B|Kua-UEV|UBE2V1 protein-coding 1351529 TMEM19 transmembrane protein 19 737633 16189514,14702039,12477932,9373149 737633 55266 NM_018279,AC073612,CH471054,AK001798,AK025839,AK223148,BC008596 NP_060749,EAW97266,EAW97267,EAW97268,EAW97269,BAA91918,BAD96868,AAH08596,Q96HH6 Hs.688627 FLJ10936 protein-coding 1604743 TMEM190 transmembrane protein 190 12477932 147744 NM_139172,AC020922,CH471135,AF442729,BC128189,BC128190 NP_631911,EAW72372,AAL35294,AAI28190,AAI28191,Q8WZ59 Hs.590943 MDAC1|MGC149301|MGC149302 protein-coding 1641967 TMEM191B transmembrane protein 191B 728229 XM_001128423,XM_001722071,XM_001725853 XP_001128423,XP_001722123,XP_001725905 Hs.376511 protein-coding 1641960 TMEM191C transmembrane protein 191C 645426 XM_928466 XP_933559 Hs.645547 protein-coding 1602829 TMEM192 transmembrane protein 192 12477932,7566098,14702039 201931 NM_001100389,AC055120,AC108465,CH471056,AA346826,AK095801,AW137472,BC036301,BX538029,BX648915,CR590819,CR619656 NP_001093859,EAX04826,BAC04628,AAH36301,CAD97974,Q8IY95 Hs.708090 FLJ38482 protein-coding 1603697 TMEM194 transmembrane protein 194 15489334,12477932,12168954,9179496 23306 NM_015257,AC023237,AC026120,CH471054,AB006624,AL833310,AL833311,BC071597,BC117436,BC126300,CR607517,CR749406 NP_056072,EAW96984,EAW96985,EAW96986,BAA22955,AAH71597,AAI17437,AAI26301,CAH18250,O14524,Q17R72 Hs.591040 DKFZp686N1768|KIAA0286 protein-coding 1606863 TMEM195 transmembrane protein 195 12690205,12477932 392636 NM_001004320,AC004452,AC012061,AC091789,AC099412,AC099651,CH236948,CH471073,AK131284,BC108676 NP_001004320,EAL24290,EAL24291,EAW93665,BAD18458,AAI08677,Q6ZNB7 Hs.670634 FLJ16237|MGC131748 protein-coding 1606932 TMEM196 transmembrane protein 196 12477932 256130 NM_152774,AC004543,CH236948,CH471073,BC030104,BX647256,BX648384 NP_689987,EAW93715,EAW93716,EAW93717,AAH30104,CAI46055,Q5HYL7 Hs.487670 DKFZp686H19205|DKFZp686K0753|MGC42090 protein-coding 1605296 TMEM198 transmembrane protein 198 12477932 130612 NM_001005209,AC009955,CH471063,AK123175,BC068567,BC080573,CR592699,CR596918,CR597020 NP_001005209,EAW70771,EAW70772,EAW70773,AAH80573,Q66K66 Hs.446664 FLJ41180|MGC99813 protein-coding 1348837 TMEM199 transmembrane protein 199 15489334,12477932,9373149 147007 NM_152464,AC002094,CH471159,AK223584,AK291475,AY074907,BC033113 NP_689677,EAW51079,EAW51080,BAD97304,BAF84164,AAO12163,AAH33113,Q53EQ5,Q8N511 Hs.532781 GDB:11505372 C17orf32|MGC45714 protein-coding 1317427 TMEM2 transmembrane protein 2 10767548,14702039,12477932,10718198 23670 NM_013390,AL161732,AL671309,CH471089,AB037833,AF137030,AK027818,AK075370,BC140773,BC146780 NP_037522,CAI15172,CAI15173,CAI15174,CAI15175,CAI15176,EAW62517,EAW62518,EAW62520,EAW62519,BAA92650,AAF21348,BAC11574,AAI40774,AAI46781,Q9UHN6 Hs.494146 GDB:10794624 protein-coding 1354059 TMEM20 transmembrane protein 20 737633 15489334,15164054,14702039,12477932 737633 159371 NM_153226,AL138923,CH471066,AK091309,BC036382,BC041432,BC047102,BC104814 NP_694958,CAH73399,EAW50046,EAW50047,EAW50048,EAW50049,BAC03633,AAH41432,AAI04815,Q2M3R5 Hs.632085 C10orf60|FLJ33990 protein-coding 1345256 TMEM200A transmembrane protein 200A 737633 15722956,12477932,11572484 737633 114801 NM_052913,AL137251,CH471051,AB052099,AB067500,AK290166,AK315824,BC044246 NP_443145,EAW48068,BAD05135,BAB67806,BAF82855,BAF98715,AAH44246,Q86VY9 Hs.591341 KIAA1913|TTMA|TTMC protein-coding 1606080 TMEM200B transmembrane protein 200B 15722956,12477932 399474 NM_001003682,AL357500,AL110282,BC033289,BC064375,BC064538,BC082989,BC110336 NP_001003682,CAH10727,AAH64375,AAH64538,AAH82989,AAI10337,Q69YZ2 Hs.702377 MGC102864|MGC90489|TTMB protein-coding 1604210 TMEM201 transmembrane protein 201 199953 NM_001010866,AL954705,BC121187,BX648377,CR626314 NP_001010866,CAI17268,CAI17269,CAI17270,AAI21188,Q5SNT1,Q5SNT2 Hs.632365 RP13-15M17.2 protein-coding 2289768 TMEM202 transmembrane protein 202 338949 NM_001080462,AC009690,AC079322,AK131033 NP_001073931,A6NGA9 Hs.446069 FLJ27523 protein-coding 1605598 TMEM203 transmembrane protein 203 12477932 94107 NM_053045,AL929554,CH471090,AF529372,BC009283,BC009461,BC067786 NP_444273,EAW88365,AAQ09606,AAH09283,AAH09461,AAH67786,Q7Z4H1,Q969S6 Hs.591886 HBEBP1|MGC14327|MGC15961 protein-coding 1350691 TMEM204 transmembrane protein 204 C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM] 15489334,15206924,14702039,12975309,12477932,12136098,11157797 79652 NM_024600,AE006467,AJ323237,AL031719,CH471112,AK024551,AY358178,AY676494,BC004932,BC020425,BC105785 NP_078876,AAK61286,EAW85645,EAW85646,BAB14926,AAQ88545,AAT78423,AAH04932,AAI05786,Q9BSN7 Hs.459652 GDB:11504881 C16orf30|CLP24|FLJ20898|MGC111564 chromosome 16 open reading frame 30 protein-coding 1605798 TMEM205 transmembrane protein 205 12975309,12477932 374882 AC024575,CH471106,NM_198536,AK127147,AK291979,AY358949,BC064948,BC071616,BC091472,CR623218 NP_940938,EAW84191,EAW84192,EAW84193,EAW84194,EAW84195,EAW84196,EAW84197,BAC86852,BAF84668,AAQ89308,AAH64948,AAH91472,Q6UW68,Q6ZSU4 Hs.8036 MGC110858|UNQ501 protein-coding 1602479 TMEM206 transmembrane protein 206 12477932,16710414,15489334,14702039 55248 NM_018252,AC092803,AL360091,CH471100,AK001736,AK024066,BC006320,CR457268,DC411913 NP_060722,EAW93390,EAW93391,BAA91870,BAB14810,AAH06320,CAG33549,Q9H813 Hs.445386 C1orf75|FLJ10874|RP11-384C4.5 protein-coding 1602436 TMEM207 transmembrane protein 207 12975309,12477932 131920 NM_207316,AC009520,CH471052,AY358607,BC071780 NP_997199,EAW78105,AAQ88970,AAH71780,Q6UWW9 Hs.335321 UNQ846 protein-coding 1605689 TMEM208 transmembrane protein 208 12477932,11042152 29100 NM_014187,AC040160,CH471092,AF161519,BC003080,BC013412,BC021109,BF316569,BI838179,CR606454 NP_054906,EAW83105,EAW83106,EAW83107,EAW83108,AAF29134,AAH03080,AAH13412,AAH21109,Q9BTX3,ABM83497,ABM86572,ABM86712 Hs.433203 HSPC171 protein-coding 1605919 TMEM209 transmembrane protein 209 16344560,14962666,14702039,12958361,12477932 84928 NM_032842,AC087071,CH236950,CH471070,CS300556,AI589217,AK027678,AK027709,AK074732,BC016721,BC045618,BC057784,BU177118,DB021198 NP_116231,EAL24094,EAW83748,EAW83749,CAK32220,BAB55289,BAB55314,BAC11168,AAH45618,AAH57784,Q96SK2 Hs.267245 FLJ14803|NET31 protein-coding 2292188 TMEM210 transmembrane protein 210 15164053 100128315 XM_001715022,XM_001717786,XM_001716293,AL929554 XP_001715074,XP_001717838,XP_001716345,A6NLX4 Hs.512463 protein-coding 1314532 TMEM22 transmembrane protein 22 737633,1580863 11256614,17081983,16381901,15489336,15489334,12477932,11230166,11076863 737633 80723 NM_025246,NM_001097599,NM_001097600,AC011597,AC096992,CH471052,AL136661,BC000111,BC022557,BC050423,BI962644,CB123281,CR602043,CR602057,CR618483 NP_079522,NP_001091068,NP_001091069,EAW79111,EAW79112,EAW79113,CAB66596,AAH00111,AAH22557,Q0JTB1,Q8TBE7,CAL37816,CAL38252 Hs.655019 DKFZp564K2464|MGC3295 protein-coding 1321089 TMEM24 transmembrane protein 24 737633,1580863 9179496,17081983,16368544,15489334,15289880,12477932,12168954 737633 9854 CR615888,NM_014807,AP003391,CH471065,AB006623,AB094094,AK025223,BC003598,BC010071,BC021254,BC022219,BC033083,BC040131,BC052246,BC075832,BX537572 O14523,Q6DHX1,Q9BTM2,NP_055622,EAW67456,EAW67457,EAW67458,EAW67459,BAA22954,BAC76048,AAH03598,AAH10071,AAH21254,AAH22219,AAH33083,AAH52246,AAH75832 Hs.587176 C2CD2L|DLNB23|KIAA0285 protein-coding 1350182 TMEM25 transmembrane protein 25 16303743,15489334,15340161,15254712,14702039,12975309,12477932,9373149,8125298 84866 AK292359,AY358919,BC036433,BC042896,BC051841,AP000941,CH471065,EF445037,AK027305,AK056325,AK075437,AK096260,AK124814,AK225415,CR605433,CR621200,NM_032780 BAF85048,AAQ89278,AAH42896,NP_116169,EAW67388,EAW67389,EAW67390,EAW67391,EAW67392,EAW67393,ACA06084,ACA06085,ACA06086,ACA06087,BAB55029,BAB71151,BAC11620,BAC04742,AAH51841,Q86YD3,Q8N8S1,Q8NBL5 Hs.564188 FLJ14399 protein-coding 1319527 TMEM26 transmembrane protein 26 737633 15489334,14702039,12477932 737633 219623 NM_178505,AC068892,AL356952,CH471083,AK124367,AK125611,BC042872,CR749606 NP_848600,EAW54219,EAW54220,BAC85841,BAC86218,AAH42872,CAH18401,Q6ZUK4 Hs.623955 DKFZp686D09128|MGC35010 protein-coding 1354044 TMEM27 transmembrane protein 27 1299472,737633,1580863 17693757,16330323,15489334,12975309,12477932,11278314 1299472,737633 57393 NM_020665,AC003669,AC112497,CH471074,AF229179,AY359060,BC014317,BC015099,BC050606 NP_065716,EAW98894,AAG09466,AAQ89419,AAH14317,AAH15099,AAH50606,Q9HBJ8 Hs.129614 NX-17|NX17 protein-coding 1346543 TMEM29 transmembrane protein 29 737633,1580863 11256614,16381901,16189514,15772651,15489336,15489334,14702039,12477932,11230166,11076863 737633 29057 NM_014138,AL807736,CH471283,AF090943,AF370413,AK054721,AK057692,AK091598,AK092365,AK096162,AL834135,BC000867,BC067819,BX649013,CR602587,CR603409,CR604137,CR609149,CR749619 NP_054857,CAI42486,CAI42487,CAI42488,CAI42489,CAI42490,CAI42491,CAI42492,EAW57547,AAF24055,AAQ15249,CAD38851,AAH00867,AAH67819,CAH18413,Q0JTU8,Q8NDB6,CAL38064 Hs.653131 DKFZp686B22211|PRO0659 protein-coding 1345323 TMEM30A transmembrane protein 30A 1580863 17948906,15489334,15375526,14702039,14574404,12477932 55754 NM_018247,AL080250,CH471051,AJ420517,AK001718,AK022883,AK292823,AL162046,AL832490,AL832815,BC009006,CR607390,CR609657,CR610670 NP_060717,CAI19900,EAW48743,EAW48744,EAW48745,BAA91859,BAF85512,CAB82389,CAH56205,CAH56262,AAH09006,Q9NV96 Hs.108530 C6orf67|CDC50A|FLJ10856 protein-coding 1318678 TMEM30B transmembrane protein 30B 16344560,15489334,15375526,14702039,12477932 161291 NM_001017970,AL359220,CH471061,AK091169,AL080078,BC101726,BC113559,DA431345,DA666826,DB220251,DB237714 NP_001017970,EAW80799,AAI01727,AAI13560,Q3MIR4 Hs.146180,Hs.659339 CDC50B|MGC126775 protein-coding 1349126 TMEM30C transmembrane protein 30C 17258408,15375526 644444 XM_001716958,XM_001722953,XM_001716539,AC129803,AB249666,AB250297 XP_001717010,XP_001723005,XP_001716591,BAF41210,A0ZSE6 Hs.652353 CDC50C protein-coding 1346804 TMEM31 transmembrane protein 31 737633 12477932 737633 203562 NM_182541,AL049610,CH471190,CS072437,AK130867,BC029575 NP_872347,CAI42164,EAW54696,CAI93575,AAH29575,Q5JXX7,ABM82440,ABM85631 Hs.98843 FLJ27357|MGC39655 protein-coding 1343591 TMEM32 transmembrane protein 32 737633,1580863 16381901,15489336,12477932,11256614,11230166,11076863 737633 93380 NM_173470,AL732579,AL953870,CH471150,AL157477,BC033588 NP_775741,CAI39920,EAW88483,EAW88484,EAW88485,AAH33588,Q8N4V1,CAL38628 Hs.110702 protein-coding 1353146 TMEM33 transmembrane protein 33 737633,1580863 17353931,17081065,15489334,14702039,12477932 737633 55161 NM_018126,AC106052,AC108210,CH471069,AK001387,AK023062,AK024587,AK094190,AY659966,BC000948,CR457260,CR592529,CR609993 NP_060596,EAW92991,EAW92992,EAW92993,EAW92994,BAA91665,BAB14384,AAV70491,AAH00948,CAG33541,P57088 Hs.31082 1600019D15Rik|FLJ10525|SHINC3 protein-coding 1349593 TMEM34 transmembrane protein 34 737633 17072649,14702039,12477932,11483580 737633 55751 NM_018241,AC093835,CH471056,AF305823,AK000169,AK001708,BC008120,BC046128,CR612482 NP_060711,EAX05015,EAX05016,AAK55526,BAA90988,BAA91851,AAH08120,AAH46128,Q9NVA4 Hs.203896 FLJ10846 protein-coding 1345227 TMEM35 transmembrane protein 35 15772651,15489334,14702039,12477932,9373149,8125298 59353 NM_021637,AL109952,CH471115,AK024146,AK223240,BC050273,BC078658 NP_067650,CAI43000,EAX02839,BAB14840,BAD96960,AAH50273,AAH78658,Q53FP2 Hs.45140 FLJ14084 protein-coding 1606154 TMEM37 transmembrane protein 37 12477932,11738816,10734232 140738 NM_183240,AC013275,CH471103,AF361356,BC046362,DR003856,DR005637 NP_899063,AAY14740,EAW95217,EAW95218,AAL50051,AAH46362,Q86SV2,Q8WXS4 Hs.26216 CACNG5|PR|PR1 protein-coding 1351909 TMEM38A transmembrane protein 38A 737633,1580863 15489334,14702039,12477932 737633 79041 NM_024074,AC008737,AC024075,CH471106,AK025981,AK292764,BC001195 NP_076979,EAW84559,BAB15307,BAF85453,AAH01195,Q9H6F2 Hs.436068 MGC3169|TRICA protein-coding 1347417 TMEM38B transmembrane protein 38B 737633 12477932,14702039 737633 55151 NM_018112,AL592437,AL592488,AL627247,CH471105,AK001355,BC000049,BC031938,CR457258 NP_060582,CAI39689,CAI39690,CAI39691,CAI39692,CAI12389,CAI12390,CAI12391,CAI12392,EAW59003,EAW59004,BAA91645,AAH00049,CAG33539,Q9NVV0 Hs.411925 C9orf87|D4Ertd89e|FLJ10493|RP11-219P18.1|TRICB|bA219P18.1 protein-coding 1353039 TMEM39A transmembrane protein 39A 737633,1580863 14702039,12477932,9373149 737633 55254 NM_018266,AC074271,CH471052,CQ834350,AK001764,AK222950,AK223248,BC003192,BC010070,BC021277 NP_060736,EAW79571,EAW79572,CAH05390,BAA91893,BAD96670,BAD96968,AAH03192,AAH21277,Q9NV64 Hs.656003 FLJ10902 protein-coding 1351966 TMEM39B transmembrane protein 39B 737633 16710414,14702039,12477932,11230166 737633 55116 NM_018056,AL445248,CH471059,CQ834402,AK001177,AK023331,AK091861,AL136695,BC004364,CR457311,CR533536,CR590417,CR598547,CR601680,CR610862,CR612134,CR612740,CR613764 NP_060526,CAH71946,CAH71947,EAX07570,EAX07571,EAX07572,EAX07573,CAH05416,BAA91535,BAB14530,CAB66630,AAH04364,CAG33592,CAG38567,Q9BT39,Q9GZU3,Q9NW51 Hs.25544 FLJ10315|RP11-277A4.3 protein-coding 1343546 TMEM40 transmembrane protein 40 737633 15489334,14702039,12665801,12477932 737633 55287 NM_018306,AC034198,CH471055,AK001898,AK092470,BC020658,CR596715,CR609175,CR619000,CR621156,CR621342 NP_060776,EAW64138,EAW64139,EAW64140,BAA91967,BAC03898,AAH20658,Q8WWA1 Hs.475502 FLJ11036 protein-coding 1352042 TMEM41A transmembrane protein 41A 737633 15489334,14702039,12975309,12477932 737633 90407 NM_080652,AC099661,CH471052,AK172748,AK290878,AY358547,BC008043,BC019884,BX647928,CR620821 NP_542383,EAW78219,EAW78220,EAW78221,EAW78222,EAW78223,BAD18735,BAF83567,AAQ88911,AAH08043,AAH19884,Q96HV5 Hs.634586,Hs.677570 2900010K02Rik|MGC15397 protein-coding 1347999 TMEM41B transmembrane protein 41B 12477932,8889549,7584028,7584026 440026 NM_015012,AC055845,CH471064,BC035034,BC044597,BC064366,BC091524,BI829492,D26067,N54391 NP_055827,EAW68594,EAW68595,EAW68596,EAW68597,EAW68598,AAH35034,AAH44597,AAH91524,BAA05062,Q5BJD5 Hs.594563 KIAA0033|MGC33897|MGC57262 protein-coding 1348470 TMEM42 transmembrane protein 42 737633,1580863 12477932 737633 131616 NM_144638,AC098649,CH471055,AL834253,BC019851,CR591568 NP_653239,EAW64725,EAW64726,CAH10689,AAH19851,Q69YG0 Hs.646859 MGC29956 protein-coding 1348900 TMEM43 transmembrane protein 43 737633 11256614,18313022,16381901,16303743,15489336,14702039,12975309,12477932,11230166,11076863,9373149,8125298 737633 79188 BC011719,CR595205,CR601518,NM_024334,AC090004,CH471055,AF086408,AK027466,AK027757,AK027827,AK027877,AK074073,AK075010,AK225589,AL136916,AY358625,BC003125,BC008054 Q9BTV4,CAL38038,AAH11719,Q8TEP9,NP_077310,EAW64184,EAW64185,EAW64186,EAW64187,BAB55131,BAB55348,BAB55396,BAB55425,BAB84899,BAC11350,CAB66850,AAQ88988,AAH03125,AAH08054 Hs.517817 DKFZp586G1919|MGC3222 protein-coding 1344878 TMEM44 transmembrane protein 44 737633 12477932 737633 93109 BX647418,CF265142,NM_001011655,NM_138399,AC046143,CH471052,AI640920,AK126914,AL833026,AY303778,AY597813,BC007772,BC014883,BC034353,BC039506,BC111485,BC130297,BU521517,BU850042,BX419619 Q2T9K0,Q6PL43,Q7Z5N1,Q8N4G3,Q96I73,NP_001011655,NP_612408,EAW78040,EAW78041,EAW78042,EAW78043,EAW78044,BAC86747,CAH56264,AAP76183,AAT09006,AAH07772,AAH14883,AAH34353,AAH39506,AAI11486,AAI30298 Hs.478729 DKFZp686O18124|MGC131692|MGC163169 protein-coding 1344791 TMEM45A transmembrane protein 45A 737633 15489334,14702039,12477932 737633 55076 NM_018004,AC128693,CH471052,AB013911,AK000996,AK129789,AY450392,BC040355 NP_060474,EAW79819,EAW79820,BAB87801,BAA91458,AAR21085,AAH40355,Q9NWC5 Hs.658956 DERP7|FLJ10134 protein-coding 1348060 TMEM45B transmembrane protein 45B 737633 15489334,14702039,12477932 737633 120224 BC016153,NM_138788,AP003327,CH471065,AK098106,AK290283,AK292058 AAH16153,Q96B21,NP_620143,EAW67747,EAW67748,EAW67749,EAW67750,EAW67751,BAC05235,BAF82972,BAF84747 Hs.504301 FLJ40787 protein-coding 1343840 TMEM47 transmembrane protein 47 This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. 68668,1580863 11256614,18056173,16381901,15772651,15489336,15489334,15345028,14702039,12477932,11472633,11230166,11076863 68668 83604 NM_031442,AL596285,CH471074,AK090917,AK311054,AL049257,AL136550,BC039242,CX788638 NP_113630,CAI40203,EAW99070,EAW99071,CAB66485,AAH39242,Q0JV38,Q9BQJ4,CAL37622 Hs.8769 BCMP1|DKFZP761J17121|DKFZp564E153|FLJ18096|MGC32949|TM4SF10 transmembrane 4 superfamily member 10 protein-coding 1601865 TMEM48 transmembrane protein 48 16600873,17081983,16779818,16710414,16702233,16565220,15489334,14702039,12958361,12477932 55706 NM_018087,AL049745,CH471059,AK001269,AK001593,AK022618,AK091439,AL354612,AL354613,BC003082,BX648031,DQ141696 NP_060557,EAX06731,EAX06732,EAX06733,BAA91592,BAB14135,BAC03665,CAB89725,CAB89726,AAH03082,AAZ73087,Q9BTX1 Hs.476525 FLJ10407|FLJ12556|FLJ34120|NDC1|NET3|RP4-654H19.1 protein-coding 731420 TMEM49 transmembrane protein 49 18384814,17940279,17724469,15466293,12477932,11785947,11256614,11230166,11076863 81671 AF161410,AF214006,AK024969,AK025987,AL136711,BC009758,BC024020,CR533521,CR597083,CR608437,CR623568,DC428792,NM_030938,AC004686,AC025858,AC040904,AC091271,CH471109,AB047551 AAF28970,AAL36461,CAB66646,AAH09758,CAG38552,Q96GC9,CAL38428,CAL38503,ABM83495,NP_112200,EAW94390,EAW94391,EAW94392,EAW94393,BAF47368 Hs.444569,Hs.708260 DKFZP566I133|VMP1 vacuole membrane protein 1 protein-coding 1319660 TMEM5 transmembrane protein 5 1580863 10072769,15489334,12477932 10329 NM_014254,AC084357,CH471054,AB015633,AK289382,BC002596,BC013152,BX647105,BX647419,CR606653,CR610902,CR613360,CR616450,CR619804,CR622234,CR623257 NP_055069,EAW97120,EAW97121,BAA76500,BAF82071,AAH02596,AAH13152,Q9Y2B1,ABM82003,ABM85185 Hs.699516 GDB:9956357 HP10481 protein-coding 1606813 TMEM50A transmembrane protein 50A This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. 11256614,16381901,16094384,15489336,15489334,12975309,12477932,11902138,11230166,11076863,10938938,10845894 23585 NM_014313,NG_003255,AF458851,AL928711,BN000065,CH471134,AF081282,AF087880,AL136627,AY071927,AY358650,BC007341,BC066908,BX537683,CR592818,CR596941 NP_055128,AAL51108,CAH72608,CAD29849,EAW95168,EAW95169,AAD17754,AAP97180,CAB66562,AAL61545,AAQ89013,AAH07341,AAH66908,O95807,Q7RU07,Q7Z509,CAL37465,CAL37763,CAL37858 Hs.523054 IFNRC|RP11-335G20.3|SMP1 protein-coding 1316828 TMEM50B transmembrane protein 50B 11256614,16780588,17567994,15489334,12975309,12477932,10830953,10077530 757 NM_006134,AF039906,AP000300,AP000301,AP000302,CH471079,AF045606,AF086280,AL355685,AY358634,AY820138,BC000569,BF696480,BM152475,CR613027,DQ286229,DQ656043 NP_006125,AAC05090,EAX09832,EAX09833,AAC05974,AAQ88997,AAV68502,AAH00569,ABB91377,P56557,Q2V8N0 Hs.433668 GDB:9834785 C21orf4|DKFZp686C2482|HCVP7TP3 chromosome 21 open reading frame 4 protein-coding 1602878 TMEM51 transmembrane protein 51 16710414,15489334,14702039,12477932 55092 CR607065,NM_018022,AL035405,AL391094,CH471167,AK001061,AK098467,AK129922,AK292184,BC000202,BC000593,BC005177,CR457120,CR599423 NP_060492,EAW51710,EAW51711,EAW51712,EAW51713,EAW51714,BAA91486,BAF84873,AAH00202,AAH00593,AAH05177,CAG33401,Q4VX97,Q9BSA0,Q9NW97 Hs.465305 C1orf72|FLJ10199 protein-coding 1603246 TMEM52 transmembrane protein 52 339456 NM_178545,AL109917,CH471183,AJ278736 NP_848640,CAI95656,CAI95657,CAI95658,CAI95659,EAW56142,EAW56143,CAC82104,Q8NDY8 Hs.123423 protein-coding 1603008 TMEM53 transmembrane protein 53 12958361,12477932,9373149,8125298 79639 NM_024587,AL122004,CH471059,AK026006,AK225405,AL832539,BC007521,BC064520,CR457348,CR592706,CR608781 NP_078863,CAI22340,CAI22341,CAI22342,EAX07028,EAX07029,EAX07030,BAB15317,CAI46125,AAH64520,CAG33629,Q6P2H8 Hs.22157 FLJ22353|NET4|RP4-678E16.2 protein-coding 1606187 TMEM54 transmembrane protein 54 9500206,15489334,12477932,11394883 113452 NM_033504,AC114493,CH471059,AB012692,AY027543,AY359883,BC001418,BC013953,BC020497,BC023260,CR596164 NP_277039,EAX07492,EAX07493,BAA87335,AAK13050,AAQ64021,AAH01418,AAH13953,AAH23260,Q969K7 Hs.534521 BCLP|CAC-1|CAC1|MGC10137 protein-coding 1602110 TMEM55A transmembrane protein 55A TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM] 16365287,15489334,12477932 55529 NM_018710,AC087439,AL359591,CH471060,BC033892,CR603128,CR749733 NP_061180,EAW91672,EAW91673,AAH33892,CAH18492,Q8N4L2 Hs.202517 DKFZp762O076 protein-coding 1316692 TMEM55B transmembrane protein 55B TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM] 17940011,16381901,16365287,15489336,15489334,12477932,11076863 90809 NM_001100814,NM_144568,AL355075,CH471078,AL137727,BC002867,BC020947,BX161490,BX248025,CA430067,CR598955,CR603399,CR611742,CR614912,CR616831,CR620252,CR620640,CR625488 NP_001094284,NP_653169,EAW66460,EAW66461,EAW66462,CAB70896,AAH02867,AAH20947,CAD61939,CAD62347,Q0JV37,Q86T03,CAL37623 Hs.7001 C14orf9|DKFZp434M0519|MGC26684 protein-coding 1602981 TMEM56 transmembrane protein 56 14702039,12477932 148534 BC139737,CR613763,NM_152487,AC092802,AC095033,BX537731,CH471097,AK056404 AAI39738,Q96MV1,NP_689700,EAW73024,EAW73025,BAB71177 Hs.483512 FLJ31842|MGC102912 protein-coding 1605378 TMEM57 transmembrane protein 57 15489334,15255972,15231748,14702039,12477932,12459264 55219 NM_018202,AL031284,BX572623,CH471059,AK001609,AK026660,AY845015,AY845035,AY845036,BC007687,BC020801,BC032427 NP_060672,CAM12862,EAX07876,EAX07877,EAX07878,BAA91786,BAB15518,AAX11913,AAX11933,AAX11934,AAH32427,Q8N5G2,Q9H5V1 Hs.189782 FLJ10747|FLJ23007|MACOILIN|RP3-469D22.2 protein-coding 1321145 TMEM59 transmembrane protein 59 1298632 16710414,16303743,15489334,14702039,12975309,12477932,11042152,9653160,9373149,8125298 1298632 9528 NM_004872,AL353898,CH471059,CQ783271,CS051337,AF047439,AF290615,AK075187,AK075505,AK123445,AK124967,AK225624,AY359029,BC003106,BC016374,BC062738,BC095464,CR591312,CR595744,CR599228,CR599396,CR599456,CR610199,CR613715,CR617143,CR622094,CR622958 NP_004863,CAI22663,CAI22664,CAI22665,CAI22666,CAI22667,EAX06704,EAX06705,EAX06706,EAX06707,EAX06708,EAX06709,EAX06710,EAX06711,CAF86476,CAI72163,AAC39890,AAK28026,BAC11658,AAQ89388,AAH03106,AAH16374,AAH62738,AAH95464,Q5T6Z8,Q5T704,Q5T706,Q6P5R1,Q9BXS4 Hs.523262 GDB:9957250 C1orf8|FLJ42977|HSPC001 chromosome 1 open reading frame 8 protein-coding 1313653 TMEM59L transmembrane protein 59-like This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. 10527841,15489334,12477932 25789 NM_012109,AC003112,AC008998,CH471106,AF186264,BC010446,BI752768,CR591469,CR594014,CR594280,CR595310,CR595970,CR598539,CR601081,CR604903,CR608463,CR612265,CR612781,CR614868,CR618668,CR618699,CR624040,CR614850 NP_036241,EAW84726,EAW84727,AAF00529,AAH10446,Q9UK28 Hs.329850 GDB:11510650 BSMAP|C19orf4 chromosome 19 open reading frame 4 protein-coding 1344846 TMEM6 transmembrane protein 6 64731 GDB:11508036 1318999 TMEM60 transmembrane protein 60 15489334,12853948,12690205,12477932 85025 NM_032936,AC004955,CH236949,CH471091,AF260336,BC012192,BC065930,CR614492 NP_116325,AAP21882,AAP21883,EAL24196,EAW77032,AAG44667,AAH65930,Q9H2L4 Hs.19025 C7orf35|DC32|MGC74482 protein-coding 1604209 TMEM61 transmembrane protein 61 16710414,15489334,12477932 199964 NM_182532,AL590440,CH471059,BC029775 NP_872338,CAH70359,EAX06662,AAH29775,Q8N0U2 Hs.663950 protein-coding 1605041 TMEM62 transmembrane protein 62 15489334,14702039,12477932,12434312,9373149,8125298 80021 NM_024956,AC068724,CH471125,AK027028,AK225353,BC009981,CR457370,CR593950 NP_079232,EAW92586,EAW92587,BAB15630,AAH09981,CAG33651,Q0P6H9 Hs.511175 FLJ23375 protein-coding 1605419 TMEM63A transmembrane protein 63A 16710414,15489334,14702039,12477932,9872452,9455484,9373149,8125298 9725 AL117348,AL591895,CH471098,AB007958,AB018335,AK022502,AK222934,AK222944,BC030245,BC113811,NM_014698 Q2HIZ8,NP_055513,CAI21797,CAI21798,CAH71996,EAW69758,EAW69759,BAA34512,BAD96654,BAD96664,AAH30245,AAI13812,O94886 Hs.119387 KIAA0489|KIAA0792|RP4-559A3.1 protein-coding 1314147 TMEM63B transmembrane protein 63B 15489334,14702039,14574404,12477932 55362 NM_018426,AL365192,CH471081,AK093629,AL353957,AL834238,BC022095,BC062989,BC093086,BE463633,CR627460 NP_060896,CAI20530,CAI20531,EAX04246,EAX04247,EAX04248,BAC04207,CAB89257,CAD38916,AAH62989,CAH10540,Q5T3F8 Hs.414473 C6orf110|DKFZp686N2275|RP3-421H19.2 chromosome 6 open reading frame 110 protein-coding 1320973 TMEM63C transmembrane protein 63C 14702039,12508121 57156 NM_020431,AC007375,AC007954,CH471061,AK124749,AK125159,AL137278,AL157492,BC136613,BC136614,BX248756,BX248759 NP_065164,AAF63182,AAF62556,EAW81272,EAW81273,CAB75676,AAI36614,AAI36615,CAD66563,CAD66566,Q9P1W3 Hs.593722 C14orf171 protein-coding 1606436 TMEM64 transmembrane protein 64 14702039,12477932 169200 NM_001008495,AB015752,AC106038,CH471060,AK095472,AK123958,AL834364,AY147881,BC017409,BC113828 NP_001008495,EAW91668,CAD39028,AAN05737,AAI13829,Q6YI46 Hs.567759 DKFZp762C1112 protein-coding 1603356 TMEM65 transmembrane protein 65 15489334,12477932,8889548 157378 NM_194291,AC090192,CH471060,AW300050,BC017881,BC032396,BC041379,BM679703,BQ433192,CR610944,DB479586 NP_919267,EAW92061,AAH17881,AAH32396,AAH41379,Q6PI78 Hs.187646 protein-coding 1604621 TMEM66 transmembrane protein 66 16303743,15489334,15340161,14702039,12975309,12477932,11042152,9373149,8125298 51669 NM_016127,AC044849,CH471080,CQ834206,AB028926,AF078855,AF100748,AF490252,AK025927,AK075340,AK094386,AK130057,AK222632,AY359104,BC015012,CR589968,CR592722,CR592958,CR594774,CR596584,CR597672,CR603460,CR603787,CR604656,CR604748,CR605556,CR605765,CR607306,CR608346,CR608438,CR608849,CR609363,CR609979,CR610452,CR612155,CR613232,CR613264,CR615477,CR616524,CR622782,CR622883,CR622956,CR625035,Z70223 NP_057211,EAW63471,EAW63472,EAW63473,EAW63474,CAH05318,BAB82465,AAD44487,AAD43012,AAO85460,BAD96352,AAQ89462,AAH15012,Q96BY9,ABM83377,ABM86589 Hs.521487 FLJ22274|FOAP-7|HSPC035|MGC8721|XTP3 protein-coding 1606753 TMEM67 transmembrane protein 67 The protein encoded by this gene is a cell membrane protein that may be related to the ciliary basal body. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). 18327255,17397051,17377820,17185389,17160906,16415887,16344560,15489334,14702039,12477932,12384791 91147 NM_153704,AC010834,CH471060,AK026742,AK092244,AK094935,BC017974,BC031220,BC032835,BC054338,BX648768,DA928293 NP_714915,EAW91701,EAW91702,EAW91703,AAH31220,AAH32835,AAH54338,CAI45999,Q5HYA8 Hs.116240 JBTS6|MECKELIN|MGC26979|MKS3|TNEM67 protein-coding 1603902 TMEM68 transmembrane protein 68 15489334,14702039,12477932 137695 NM_152417,AC100817,CH471068,AK056932,AL832935,BC020835,BC043417,BC071636 NP_689630,EAW86758,EAW86759,EAW86760,BAB71312,CAH56335,AAH20835,AAH43417,AAH71636,Q49A68,Q96MH6 Hs.420076 FLJ32370|MGC87778 protein-coding 1605680 TMEM69 transmembrane protein 69 16710414,16344560,15489334,12477932,11042152 51249 NM_016486,AL604028,CH471059,CS300524,AF151063,AK024682,BC013608,BC034147,BC039718,BC040289,BC046130,BC054041,BC064539,BC073836,BC104636,BC121117,BC133692,CR591825,CR599427,CR618480,CR626725,DA451438 NP_057570,CAI16665,EAX06953,EAX06954,CAK32188,AAH13608,AAH34147,AAH39718,AAH46130,AAH54041,AAH64539,AAH73836,AAI21118,AAI33693,AAF36149,Q5SWH9,Q7Z2G0 Hs.436502,Hs.694081 C1orf154|FLJ21029|MGC104183|RP11-767N6.4 protein-coding 1603032 TMEM70 transmembrane protein 70 15489334,14702039,12477932,9373149 54968 NM_001040613,NM_017866,AC022868,CH471068,AI800622,AK000540,AK225531,AK225536,BC002748,CB961613 NP_001035703,NP_060336,EAW87022,EAW87023,BAA91240,AAH02748,Q9BUB7 Hs.106650 FLJ20533 protein-coding 1606965 TMEM71 transmembrane protein 71 15489334,14702039,12477932 137835 NM_144649,AF228727,CH471060,AK057631,BC022053,BC062592,BC105783,CR619905 NP_653250,EAW92145,EAW92146,EAW92147,BAB71537,AAH22053,AAH62592,AAI05784,Q6P5X7 Hs.293842 FLJ33069|MGC111188 protein-coding 1605858 TMEM74 transmembrane protein 74 18294959,15489334,14702039,12477932 157753 NM_153015,AC104247,CH471060,AK055230,BC030710 NP_694560,EAW91921,EAW91922,BAB70881,AAH30710,Q96NL1 Hs.99439 FLJ30668 protein-coding 1602783 TMEM75 transmembrane protein 75 14702039 641384 Q8N9X5 NM_001037234,AK093424 Q8N9X5,NP_001032311,BAC04160 Hs.629674 FLJ36105 2292709 PRSTS2_H protein-coding 1604537 TMEM77 transmembrane protein 77 16710414,16303743,15489334,12975309,12477932 128338 AL833098,AY336747,AY358492,BC047025,BC091509,BQ006335,CR598225,CR602380,NM_178454,AL355816,CH471122,AK075350,CR607093,CR613969,CR626576,DC339928 BAC11562,AAR02410,AAQ88856,AAH47025,AAH91509,NP_848549,EAW56464,EAW56465,EAW56466,EAW56467,EAW56468,Q6UX65 Hs.485606 MGC54289|PRO180|RP5-1180E21.1|WWFQ154 protein-coding 1601945 TMEM79 transmembrane protein 79 17081983,16710414,15489334,14702039,12477932 84283 NM_032323,AL589685,CH471121,AK056816,AK122634,BC005094,CR591803 NP_115699,CAI14161,CAI14162,CAI14163,EAW52970,EAW52971,EAW52972,BAB71290,AAH05094,Q96MJ8,Q9BSE2 Hs.347408 FLJ16057|FLJ32254|MGC13102 protein-coding 1322834 TMEM8 transmembrane protein 8 (five membrane-spanning domains) 1580863 11006113,16344560,15616553,15489334,14702039,12477932,11157797 58986 NM_021259,AE006463,CH471112,Z97634,AB045292,AI678371,AK024725,AK091823,AL537021,AL546643,BC004276,BC021557,CR590299,DB224383 NP_067082,AAK61227,EAW85823,EAW85824,EAW85825,CAI95597,CAI95598,BAB16376,BAB14975,AAH04276,AAH21557,Q9HCN3,ABM82961,ABM86152 Hs.288940 GDB:11508040 M83|TMEM6 protein-coding 1603868 TMEM80 transmembrane protein 80 12477932,8889548 283232 NM_001042463,NM_174940,AC131934,CH471158,AI739035,AK124309,BC008671,BC038383,CA443683,CB044312,CF134831,CK819789,DR006597,BI916171 NP_001035928,NP_777600,EAX02372,EAX02373,AAH08671,Q96HE8 Hs.448664 FLJ38216 protein-coding 1606867 TMEM81 transmembrane protein 81 12975309,12477932 388730 AL583832,CH471067,AY359081,BC061592,NM_203376 CAI15289,EAW91535,AAQ89440,AAH61592,Q6P7N7,NP_976310 Hs.146928 HC3107|KVLA2788|MGC75217|UNQ2788 protein-coding 1603825 TMEM82 transmembrane protein 82 12477932 388595 NM_001013641,AL450998,CH471167,BC127706,BC127707,BC137239,BC137240 NP_001013663,CAH70850,EAW51749,AAI27707,AAI27708,AAI37240,AAI37241,A0PJX8 Hs.454828 protein-coding 1605682 TMEM85 transmembrane protein 85 16303743,15489334,14702039,12477932,11042152 51234 CR620239,AC079203,CH471125,CQ783331,AF151018,AK075227,AK290524,AY336092,BC002583,BC016348,CR595333,CR597763,CR597809,CR599971,CR607532,CR609616,CR619572,NM_016454 Q5J8M3,NP_057538,EAW92292,EAW92293,EAW92294,CAF86541,AAF36104,BAC11486,BAF83213,AAR24622,AAH02583 Hs.250905 FLJ90746|MGC24415|PIG17 protein-coding 1601825 TMEM86A transmembrane protein 86A 16303743,15489334,14702039,12477932 144110 NM_153347,AC103974,CH471064,CQ782568,AK074600,BC017073,BC035692,CR595902 NP_699178,EAW68373,CAF85844,BAC11084,AAH17073,AAH35692,Q8N2M4 Hs.502100 FLJ90119 protein-coding 1603160 TMEM86B transmembrane protein 86B 15489334,12477932 255043 NM_173804,AC010327,CH471135,AK126545,BC023000,BC033193 NP_776165,EAW72350,EAW72351,BAC86586,AAH23000,Q6ZTK1,Q8N661 Hs.135215 MGC30208 protein-coding 1603672 TMEM87A transmembrane protein 87A 17081983,16303743,15489334,12477932,12434312,10332034 25963 NM_015497,NM_001110503,AC022468,AC036103,CH471125,CQ782835,CQ834520,AF129927,AF132733,AI023965,AK074870,AK075403,AK289591,AK290150,AK290484,AL049944,BC005335,BC069240,BM989574,CR596160,DC341748 NP_056312,NP_001103973,EAW92540,EAW92541,EAW92542,CAF86061,CAH05475,AAF66444,BAC11256,BAC11598,BAF82280,BAF82839,BAF83173,CAB43218,AAH05335,AAH69240,Q8NBN3 Hs.511138,Hs.569487 DKFZP564G2022 protein-coding 1605922 TMEM87B transmembrane protein 87B 14702039,14684825,12477932 84910 NM_032824,AC092645,AC093675,CH471245,AK027587,AK074243,AK290294,AY429534,AY429535,BC115373 NP_116213,AAY14853,AAY24214,EAW52099,BAB55214,BAF82983,AAI15374,Q53RE0,Q96K49 Hs.656298 FLJ14681 protein-coding 1601835 TMEM88 transmembrane protein 88 15489334,12477932 92162 NM_203411,AC104581,CH471108,AK000032,BC057812,CR597798 NP_981956,EAW90124,EAW90125,AAH57812,Q6PEY1 Hs.389669 FLJ20025|MGC71744 protein-coding 1606359 TMEM89 transmembrane protein 89 12477932 440955 NM_001008269,AC121252,AX657016,CH471055,BC133034,BC133036 NP_001008270,CAD79709,EAW64899,AAI33035,AAI33037,A2RUT3 Hs.631922 protein-coding 1317397 TMEM9 transmembrane protein 9 1580863 16381901,16303743,15489336,15489334,14702039,12975309,12477932,12359240,11230166,11076863,11042152 252839 AL139159,CH471067,CS051125,CS072356,AB013909,AF151020,AK054883,AK075335,AK091726,AK094588,AL136600,AY138587,AY359012,BC001106,CR457162,CR533467,CR593584,CR594211,CR594339,NM_016456,CR597911,CR599281,CR600811,CR603168,CR606823,CR613421,CR615799,CR617609,CR618141,CR619092,CR620935,CR623586,CR624691,CR624789,CR626614 NP_057540,CAI23209,CAI23210,CAI23211,CAI23212,CAI23213,EAW91337,EAW91338,EAW91339,EAW91340,EAW91341,EAW91342,EAW91343,EAW91344,CAI72058,CAI93494,BAB87799,AAF36106,BAB70820,BAC11554,CAB66535,AAN15925,AAQ89371,AAH01106,CAG33443,CAG38498,Q5TAF7,Q5TAF8,Q5TAF9,Q5TAG0,Q6FIF9,Q6IAJ3,Q9P0T7,CAL38191,CAL38483 Hs.181444 GDB:11508997 TMEM9A protein-coding 1602232 TMEM90A transmembrane protein 90A 16359841,16344560,12477932 646658 NM_001105579,XM_001131972,AC005479,BC045804,CK906042,DB173128,DB473943 NP_001099049,XP_001131972,A6NDD5 Hs.12400 CAPUCIN protein-coding 1602234 TMEM91 transmembrane protein 91 16344560,14702039,12477932,8889548 641649 NM_001098821,NM_001098825,NM_001098822,NM_001098823,NM_001098824,NM_001042595,AC011462,CH471126,AI214374,AI277187,AK130820,AL833095,BC063705,BF684543,BG697182,BM675470,BM726200,BM931402,BX090160,CR593776,CR610273,DA673235,R01772,R67551 NP_001092291,NP_001092295,NP_001092292,NP_001092293,NP_001092294,NP_001036060,EAW57036,EAW57037,BAC85439,AAH63705,Q6P434,Q6ZNR0 Hs.709417 FLJ27310|FLJ45695 protein-coding 1603555 TMEM92 transmembrane protein 92 15489334,14702039,12975309,12477932 162461 AC015909,CH471109,AK090637,AY358204,BC064507,NM_153229 EAW94628,BAC03495,AAQ88571,AAH64507,Q6UXU6,NP_694961 Hs.224630 FLJ33318 protein-coding 1606492 TMEM93 transmembrane protein 93 16341674,15489334,12477932 83460 NM_001014764,NM_031298,AC132942,CH471108,BC001409,BM825446,BQ277705,CR609408 NP_001014764,NP_112588,EAW90490,AAH01409,Q9BV81 Hs.30011 MGC2963 protein-coding 1603857 TMEM95 transmembrane protein 95 12975309,12477932 339168 BC040900,BC107110,NM_198154,AC026954,CH471108,AY358218 AAQ88585,AAH40900,AAI07111,Q3KNT9,NP_937797,EAW90205,EAW90206,EAW90207 Hs.259432 MGC129793|UNQ9390 protein-coding 1607046 TMEM97 transmembrane protein 97 7694637,18070364,17143516,16344560,15489334,15375745,12477932 27346 NM_014573,AC002094,CH471159,BC017362,BC045655,BC091504,CA441136,CR590967,CR612870,CR613993,DA410183,L19183 NP_055388,EAW51067,EAW51068,EAW51069,AAH45655,AAH91504,AAA16188,Q5BJF2,Q86XC5 Hs.199695 MAC30 protein-coding 1607062 TMEM98 transmembrane protein 98 11256614,16381901,15489336,15489334,12975309,12477932,11230166,11076863 26022 CR613257,CR613996,CR617078,CR617431,NM_001033504,AC084809,CH471147,AF132000,AL117619,AY358573,BC000526,BC106911,CR457125,CR590256,CR590271,CR590379,CR593283,CR596801,CR596889,CR597085,CR597844,CR600711,CR605299,CR605381,CR606539,CR608363,CR608592,NM_015544 A0AUK5,Q9Y2Y6,CAL37523,NP_056359,NP_001028676,EAW80219,EAW80220,AAD22105,CAB56018,AAQ88936,AAH00526,AAI06912,CAG33406 Hs.708000 DKFZP564K1964 protein-coding 1603177 TMEM99 transmembrane protein 99 16461635,15489334,14702039,12477932,11752456 147184 NM_145274,AC090283,CH471152,AI301318,AK097454,AV649893,BC015365,CR608287,DN920898 NP_660317,EAW60682,EAW60683,EAW60684,BAC05059,AAH15365,Q8N816 Hs.353163 MGC21518 protein-coding 1321873 TMEM9B TMEM9 domain family, member B 12761501,16303743,15489334,15340161,12975309,12477932,11528127 56674 AC026894,AJ400877,CH471064,CQ783570,CQ834260,AB097017,AK074677,AY359069,BC015884,BC040124,CR595163,CR605470,CR609980,CR610059,CR612599,CR613664,NM_020644,CR620353 NP_065695,CAB92287,EAW68607,EAW68608,EAW68609,CAF86738,CAH05345,BAC77370,BAC11131,AAQ89428,AAH15884,AAH40124,Q543A1,Q7Z649,Q9NQ34 Hs.501853 GDB:11500450 C11orf15 protein-coding 732153 TMF1 TATA element modulatory factor 1 1580863 1409643,10428808,17698061,16964243,16713569,15128430,14702039,12477932,12165860,12044884,9742951,8889548 7110 NM_007114,AC109587,CH471055,AB209109,AK021741,AK096365,AL040699,BC008454,BC033771,BC117418,BC126123,BU689613,L01042 NP_009045,EAW65468,EAW65469,BAD92346,AAH33771,AAI17419,AAI26124,AAD54608,P82094,Q17R87,Q59GK0,Q6PII6 Hs.267632 GDB:136007 ARA160 protein-coding 1343102 TMIE transmembrane inner ear 1599441,1599439,1580863 15489334,14727813,12477932,12145746,12140191,8889548,8681137,8593615 1599439 259236 NM_147196,AC134504,CH471055,AK289625,AY081842,BC126258,BC126260,BM696323,F22661 NP_671729,EAW64781,BAF82314,AAL89820,AAI26259,AAI26261,Q8NEW7 Hs.185777 DFNB6 protein-coding 1604448 TMIGD1 transmembrane and immunoglobulin domain containing 1 14702039,12975309 388364 NM_206832,AC087644,CH471159,AK172838,AK290266,AY358153 NP_996663,EAW51226,BAD18803,BAF82955,AAQ88520,Q6UXZ0 Hs.371005 TMIGD|UNQ9372 protein-coding 1606734 TMIGD2 transmembrane and immunoglobulin domain containing 2 15489334,15340161,12975309,12477932 126259 NM_144615,AC008616,CH471139,AY358964,BC015655 NP_653216,EAW69239,EAW69240,AAQ89323,AAH15655,Q96BF3 Hs.263928 MGC23244 protein-coding 736195 TMLHE trimethyllysine hydroxylase, epsilon 1580863 15772651,17408883,16381901,15754339,15489336,15489334,14702039,12477932,11431483,11256614,11076863,8908511 55217 CH471247,AF373407,AK001589,AK291694,BC009673,BC025269,CR457265,CR595358,CR610079,CR610946,NM_018196,BX276110,BX323057 EAW55873,EAW55874,EAW55875,AAL01871,BAA91775,BAF84383,AAH25269,CAG33546,Q9NVH6,CAL38074,NP_060666,CAH71441,CAH71442 Hs.133321 GDB:11508042 BBOX2|FLJ10727|TMLH|XAP130 protein-coding 1605431 TMOD1 tropomodulin 1 16434395,16297372,15489334,15164053,15095301,14741341,14702039,12477932,11964245,11054557,11016930,10871039,8954802,8661028,8262158,8002995,7962203,1370827 7111 NM_003275,AF288155,AL162385,CH471105,AK095748,BC002660,M77016 NP_003266,AAG30124,CAI12854,CAI12855,EAW58845,EAW58846,AAH02660,AAA61224,P28289,Q5T7W3,ABM83953,ABM87270 Hs.494595 D9S57E|ETMOD|TMOD protein-coding 1351754 TMOD2 tropomodulin 2 (neuronal) 1580863 10662549,15489334,15095301,12477932,8886980 29767 NM_014548,AC026770,AC090971,CH471082,AF177169,AK292733,BC036184,BC064961 NP_055363,EAW77428,EAW77429,AAF31668,BAF85422,AAH36184,AAH64961,Q4G0W6,Q9NZR1 Hs.659839 GDB:10450031 MGC39481|NTMOD protein-coding 1322266 TMOD3 tropomodulin 3 (ubiquitous) 1580863 10662549,17928307,17081983,17012745,15489334,15095301,12707310,12477932,14743216 29766 NM_014547,AC090971,AF177171,AF237631,AL137543,BC020542,BX647277,CR611644 NP_055362,AAF31670,AAF45299,CAB70801,AAH20542,CAI46036,Q5HYL6,Q9NYL9 Hs.706909 GDB:10450055 UTMOD protein-coding 1319001 TMOD4 tropomodulin 4 (muscle) 1580863 10662549,15489334,14702039,12477932,11716785,10497209 29765 NM_013353,AF321183,AF393375,CH471121,AF165217,AF177173,AK092700,BC017810,BX647346,DC385872,AL592424 NP_037485,AAK06765,AAM73676,EAW53463,EAW53464,EAW53465,AAF01277,AAF31672,BAC03951,AAH17810,Q5JR82,Q5JR83,Q8N706,Q9NZQ9,CAI16383,CAI16384 Hs.2430 GDB:10450029 DKFZp779I0852|SK-TMOD protein-coding 735785 TMPO thymopoietin 1580863 7517549,6364989,3473468,2158125,302007,8530026,17284516,17364180,17227891,17213199,17081983,16760672,16713569,16606692,16247757,16083285,15546916,15489334,15302935,12950172,12538639,12477932,12475961,11591818,11500367,11435115,11034899,10984438,10806084,10430029,10393804,9707448,9490046,9461618,9110174,8743987,8619474,8016147,7703909 7112 NM_001032283,NM_001032284,NM_003276,AC013418,CH471054,U18269,U18270,U18271,AB209297,AF070631,AF113682,BC050383,BC053675,EF028063,S76736,U09086,U09087,U09088 NP_001027454,NP_001027455,NP_003267,EAW97589,EAW97590,EAW97591,EAW97592,EAW97593,EAW97594,AAB60434,AAB60433,AAB60435,BAD92534,AAC25390,AAF29583,AAH53675,ABL61272,AAB33958,AAB60329,AAB60330,AAB60331,P42166,P42167,Q59G12,Q9P1N8 Hs.11355 GDB:376486 CMD1T|LAP2|LEMD4|MGC61508|PRO0868|TP protein-coding 1353581 TMPOP1 thymopoietin pseudogene 1 387098 1605232 TMPRSS11A transmembrane protease, serine 11A 17971341,15328353,12838346,12477932 339967 NM_182606,NM_001114387,AC096653,AC096727,CH471057,AF071882,AK131518,AK292950,AY498712,BC111796,BN000133 NP_872412,NP_001107859,EAX05560,AAD41463,BAD18660,BAF85639,AAS78642,AAI11797,CAD67985,Q6ZMR5 Hs.450110 ECRG1|MGC133183 protein-coding 1606722 TMPRSS11B transmembrane protease, serine 11B 16381901,15489336,12477932,11230166,11076863 132724 NM_182502,AC098799,CH471057,AK290904,AL833167,BC126195,BX537945 NP_872308,EAX05569,BAF83593,CAD91168,AAI26196,CAD97913,Q86T26,CAL38608 Hs.407122 DKFZp686L1818 protein-coding 1606328 TMPRSS11D transmembrane protease, serine 11D This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. 9565616,16973594,16336275,16199437,15489334,15102084,14702039,12630574,12477932,11326745,9070615 9407 NM_004262,AC079880,AC096653,BX649007,CH471057,AB002134,AK094054,AK290289,AL603214,BC033295,BC125195,BC125196 NP_004253,AAY40996,EAX05559,BAA28691,BAF82978,AAI25196,AAI25197,O60235,Q4W5K4 Hs.132195 HAT|MGC150587|MGC150588 protein-coding 1606302 TMPRSS11E transmembrane protease, serine 11E 17388811,16344560,15489334,15328353,12975309,12477932,11161383 28983 NM_014058,AC074378,AC079749,CH471057,AF064819,AY359017,BC113412,BC113414,DB013544 NP_054777,AAY40995,EAX05573,AAF04328,AAQ89376,AAI13413,AAI13415,Q4W5P3,Q9UL52 Hs.201877 DESC1|MGC141972|MGC141974 protein-coding 1641973 TMPRSS11E2 transmembrane protease, serine 11E2 9847074 729884 NM_001099662,AC019173,AC140484,AK292787 NP_001093132,BAF85476,A6NL71 Hs.645299 protein-coding 1602625 TMPRSS11F transmembrane protease, serine 11F 389208 NM_207407,AC096727,AC107054,CH471057,AK122625 NP_997290,EAX05563,BAC85495,Q6ZWK6 Hs.677557 FLJ16046 protein-coding 1606922 TMPRSS12 transmembrane protease, serine 12 12477932 283471 NM_182559,AC008121,AC013244,CH471111,AA884376,BC035123,BC048112,CR596226,DB458497 EAW58153,NP_872365,EAW58152,AAH35123,AAH48112,Q49AN6,Q86WS5 Hs.125571 MGC57341 protein-coding 1604778 TMPRSS13 transmembrane protease, serine 13 11267681,17981585,16554811,14702039,12477932 84000 NM_001077263,AP002962,CH471065,AB048796,AB048797,AK027798,AY190317,BC018715,BC114928,CR596543,CR613669 NP_001070731,EAW67338,EAW67339,EAW67340,EAW67341,EAW67342,BAB39741,BAB39742,BAB55376,AAO38062,AAI14929,Q1RMF8,Q9BYE2 Hs.266308 MSP|MSPL|MSPS|TMPRSS11 protein-coding 1354092 TMPRSS2 transmembrane protease, serine 2 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. The biological function of this gene is unknown. 1580863 9325052,18172298,18065961,17804708,17654723,17632455,17584912,17390040,17367471,17032499,16973594,16820092,16585160,16575875,15537383,15489334,15065083,12477932,11414763,11322890,11245484,11169526,10830953,10485450,9373149,8125298 7113 NM_005656,AP001610,CH471079,AF123453,AF270487,AF329454,AK222784,AK291813,BC015819,BC035623,BC051839,EU090249,U75329 NP_005647,EAX09596,EAX09597,EAX09598,EAX09599,AAD37117,AAK29280,AAK53559,BAD96504,BAF84502,AAH51839,AAC51784,O15393,Q96T73 Hs.439309 GDB:6065016 PRSS10 protein-coding 1320861 TMPRSS3 transmembrane protease, serine 3 This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, a LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor associated gene that is overexpressed in ovarian tumors. Four alternatively spliced variants have been described, two of which encode identical products. 1599443,1580863 11907649,11462234,11424922,10830953,10825129,8651303,11068177,11137999,12393794,16780588,17981648,17551081,16169070,16021470,15489334,15447792,14702039,12975309,12920079,12477932 1599443 64699 NM_024022,NM_032401,NM_032404,NM_032405,AP001623,CH471079,AB038157,AB038158,AB038159,AB038160,AF201380,AF267741,AK131212,AK172842,AY358458,AY633572,BC074846,BC074847,CR590125 EAX09567,NP_076927,NP_115777,NP_115780,NP_115781,EAX09564,EAX09565,EAX09566,EAX09568,BAB20077,BAB20078,BAB20079,BAB20080,AAG37012,AAL56664,BAD18402,BAD18806,AAQ88823,AAT66641,AAH74846,AAH74847,P57727,Q5USC7,Q6ZNH3,Q8WY52 Hs.208600 GDB:9992980 DFNB10|DFNB8|ECHOS1|TADG12 protein-coding 1312821 TMPRSS4 transmembrane protease, serine 4 This gene encodes a member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10825129,15489334,15342556,14702039,12975309,12477932,8889548 56649 AY358530,BC004855,BC011703,BC012752,BE736425,BP220493,BU685753,NM_019894,NM_001083947,AP000665,AP002800,CH471065,AF179224,AF216312,AK172766,AK290361 AAQ88894,AAH04855,AAH11703,Q9NRS4,NP_063947,NP_001077416,EAW67345,EAW67346,EAW67347,EAW67348,EAW67349,EAW67350,AAF74526,AAF31436,BAD18749,BAF83050 Hs.161985 GDB:10840884 MT-SP2|TMPRSS3 protein-coding 732836 TMPRSS5 transmembrane protease, serine 5 (spinesin) This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. 1580863 12484779,12477932,11741986 80975 NM_030770,AP002436,AP003402,CH471065,AB028140,AI056603,AL538140,BC028065,BC047222,BC121802,BC121803 NP_110397,EAW67226,EAW67227,EAW67228,BAB20375,AAI21803,AAI21804,Q0P513,Q0P514,Q9H3S3 Hs.46720 GDB:10840886 MGC141886|MGC148044|SPINESIN adrenal mitochondrial protease protein-coding 1316154 TMPRSS6 transmembrane protease, serine 6 The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. 1580863 12149247,18408718,17981570,17575220,16533768,15489334,15461802,14702039,12975309,12784999,12477932,10591208,16189514 164656 NM_153609,AL022314,AY055383,CH471095,AJ319876,AY055384,AY358398,BC039082,CR456446 NP_705837,AAL16413,EAW60141,EAW60142,EAW60143,CAC85953,AAL16414,AAQ88764,AAH39082,CAG30332,Q6ICC2,Q8IU80,Q96NJ4,CAK54475,CAK54774 Hs.370885 protein-coding 1312220 TMPRSS7 transmembrane protease, serine 7 1580863 16641997,15489334,14702039,12838346,12477932 344805 AC024887,AK131211,BC117322,BN000125,NM_001042575 NP_001036040,BAD18401,AAI17323,CAD67577,Q7RTY8 Hs.435490 transmembrane serine protease 7 protein-coding 1319995 TMPRSS9 transmembrane protease, serine 9 16872279,12886014 360200 Q0X0F2,Q7Z410 NM_182973,AC011522,AC011542,CH471139,AB109390,AJ488946,AJ488947,AK131261 NP_892018,EAW69382,BAF02295,CAD35758,CAD35759,BAD18439,Q0X0F2,Q7Z410 Hs.465560 FLJ16193 transmembrane serine protease 9 protein-coding 731359 TMSB10 thymosin beta 10 16916647,16786322,16012174,15665289,15489334,15254683,14741341,12914774,12481941,12477932,11527208,11472367,10487837,8425765,3365256,2169566,2071228,1744129,1627460,1582498 9168 NM_021103,AC022210,CH471053,M92383,AK130949,AY453400,BC016025,BC016731,BC107889,CR595675,M20259,M92381,S54005 NP_066926,AAY24191,EAW99547,EAW99548,AAA36746,AAS47517,AAH16025,AAH16731,AAA36744,AAC41691,AAB25225,P63313,Q596K9 Hs.446574 GDB:9955156 MIG12|TB10 protein-coding 736781 TMSB4X thymosin beta 4, X-linked This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. 17967441,17984099,17600285,17600283,17567947,17495251,17495244,17495243,17200658,16956606,16949646,16515784,16423999,16364925,16272158,16010977,15565145,15466884,15311936,15235586,15163409,14702039,14592829,12962156,12852258,12477932,12163032,11812134,11311852,10848969,10777749,10611475,9647778,9381176,9194528,9153421,8630056,8617195,8252614,6838210,6548414,3500230,2998351,2677145,2004759,1999398,1584803,1330091 7114 NM_021109,AC139705,AJ295158,CH471074,AK055976,AK057827,AV715954,BC001631,BC016732,BC022857,BC061586,BC062436,BC064954,BC070248,BC070249,BC083509,BC092437,BC101790,BC101792,BC104464,BC104465,BC104666,BC107789,BC128102,BC128103,BC139925,BC141975,BC141976,BC151215,BT007090,M11948,M17733,X02493 NP_066932,CAC43317,EAW98810,EAW98811,EAW98812,EAW98813,EAW98814,AAH01631,AAH16732,AAH22857,AAH61586,AAH62436,AAH64954,AAH70248,AAH83509,AAH92437,AAI01791,AAI01793,AAI04465,AAI04466,AAI04667,AAI28103,AAI28104,AAI39926,AAI41976,AAI41977,AAI51216,AAP35753,AAA36745,CAA26323,P62328,Q0P5N8,Q0P5P4 Hs.522584,Hs.703237 GDB:378616 FX|PTMB4|TB4X|TMSB4 thymosin beta-4|thymosin, beta 4, X-linked protein-coding 1354108 TMSB4Y thymosin beta 4, Y-linked This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. 1580863 8838802,16189514,15557202,15489334,12815422,12477932,9847074,9381176,8416954 9087 NM_004202,AC006371,CH471155,AF000989,BC022482,BC119763,BC119764 NP_004193,AAD54509,EAW91614,AAC51836,AAI19764,AAI19765,O14604 Hs.159201 GDB:9954848 MGC26307|TB4Y protein-coding 1349163 TMSL1 thymosin-like 1 (pseudogene) 12477932 7115 NG_004714,AL445669,BC090885,BC101199,BC101200 AAI01200,AAI01201,Q08EQ4 Hs.655548 GDB:125300 pseudo 1352522 TMSL2 thymosin-like 2 12477932,2004759 7116 NG_004719,AC010907,BC104196,BC104197,BC113076 AAI04197,AAI04198,AAI13077,Q2KHM7 Hs.659140 GDB:125301 MGC125884|MGC125885 pseudo 1343307 TMSL3 thymosin-like 3 2004759 7117 NM_183049,AC019188,CR596371,CR605307,CR621963,CR624038 NP_898870 Hs.555895 GDB:125302 protein-coding 1605430 TMSL4 thymosin-like 4 7118 NG_004715,AL359091 GDB:125303 pseudo 1353589 TMSL5 thymosin-like 5 (pseudogene) 7119 NG_002996,AP001591 GDB:125304 pseudo 1605429 TMSL6 thymosin-like 6 (pseudogene) 2004759 7120 NG_006508,AL133228,BC112282 AAI12283,Q2M1N6,Q5TD55 Hs.708239 GDB:125305 TMSB4L|dJ1071L10.1 pseudo 1348395 TMSL7 thymosin-like 7 (pseudogene) 2004759 7121 NG_002997,AL445164 GDB:125306 pseudo 1602496 TMSL8 thymosin-like 8 17888914,17567946,17388661,15772651,15489334,12665801,12477932,9039501,8946830 11013 NM_021992,AL035609,CH471190,AF086495,BC000183,BG829126,BU599402,D82345 NP_068832,CAC18959,EAW54739,AAH00183,BAA11556,Q99406 Hs.56145 TMSNB|Tb15|TbNB protein-coding 1605326 TMTC1 transmembrane and tetratricopeptide repeat containing 1 15489334,12477932,14702039 83857 AC009320,AC009510,AC012151,AC022078,CH471094,AF319520,AF433169,NM_175861,AK022989,AK055962,AK123619,AK125140,AK127297,AL832328,BC007383,BC017984,BC028716,BC039460,BC042083 NP_787057,EAW96601,AAK32121,AAQ04260,BAB71057,BAC86062,BAC86923,AAH28716,AAH42083,Q5K675,Q6ZV04,Q8IUR5 Hs.401954 ARG99|FLJ31400|FLJ41625|OLF protein-coding 1605852 TMTC2 transmembrane and tetratricopeptide repeat containing 2 11256614,16381901,15489336,15489334,14702039,12477932,11230166,11076863 160335 AC117375,CH471054,AK074634,AL834509,BC071614,BC093852,BC093854,BC098572,NM_152588,AC079595,AC090667,AC090680,AC091214 EAW97384,EAW97385,BAC11102,CAD39165,AAH93852,AAH93854,Q8N394,CAL38019,NP_689801 Hs.577775 DKFZp762A217 protein-coding 1605568 TMTC3 transmembrane and tetratricopeptide repeat containing 3 11230166,14702039,12477932,11076863,16381901,15489336,15489334 160418 NM_181783,AC087865,AC091516,AC127901,CH471054,AJ697717,AK023165,AK074973,AK290436,BC117175,BC117177,BX538169,CR749244,CR749309,CR933632,CR936640 NP_861448,EAW97415,CAG26973,BAC11325,BAF83125,AAI17176,AAI17178,CAD98046,CAH18100,CAH18164,CAI45938,CAI56780,Q6ZXV5,CAL38672 Hs.331268 DKFZp686C0968|DKFZp686M1969|DKFZp686O22167|DKFZp686O2342|FLJ90492|SMILE protein-coding 1606198 TMTC4 transmembrane and tetratricopeptide repeat containing 4 16381901,16344560,16094384,15489336,15489335,15489334,15057823,14702039,12477932,11991713,11230166,11076863 84899 NM_001079669,NM_032813,AL359085,CH471085,AF339792,AK027530,AK056409,AK092653,AK290345,AW513848,BC018707,BG830268,BX647956,BX648008,CV029196,DA368450 NP_001073137,NP_116202,CAI11004,CAI11005,CAI11006,CAI11007,EAX09040,EAX09041,EAX09042,EAX09043,BAB55179,BAF83034,AAH18707,Q0JUB0,Q5T4D3,Q5T4D7,CAL37901 Hs.706863 FLJ14624|FLJ22153 protein-coding 1349176 TMUB1 transmembrane and ubiquitin-like domain containing 1 16014383,15489334,12975309,12690205,12477932 83590 NM_031434,AACC02000108,AC010973,CH471173,AY037155,AY358481,AY603380,BC000936,BC033182,CR593124,CR593449,CR598305,CR604089,CR611070,CR619155,CR624473 NP_113622,EAL24501,EAW54030,EAW54031,EAW54032,AAK67645,AAQ88845,AAU00156,AAH00936,AAH33182,Q53AQ2,Q9BVT8 Hs.647096 C7orf21|MGC5442|SB144 protein-coding 1604292 TMUB2 transmembrane and ubiquitin-like domain containing 2 16381901,15498874,15489336,15489334,14702039,12975309,12477932,11230166,11076863,9110174,8619474 79089 BC063489,BI906577,CR591425,CR594332,CR600740,CR601571,CR601799,CR611525,CR611823,CR622157,CR623781,NM_024107,NM_177441,AC004596,CH471178,AF289564,AF370373,AK021759,AK096631,AL533563,AL538440,AL833899,AY007092,AY358780,NM_001076674,BC001792,BC004306 AAH04306,AAH63489,Q0JSU8,Q71RG4,Q8WZ28,CAL38416,NP_001070142,NP_077012,NP_803190,EAW51624,AAL55748,AAQ15209,BAB13886,CAD38755,AAQ89140,AAH01792 Hs.181391 FP2653|MGC3123 protein-coding 1354144 TNC tenascin C (hexabrachion) 1580863 1704365,18353721,18305139,18177748,18173448,18062933,18061975,17901052,17616673,17584833,17311283,17202312,17188391,17188181,17181107,17083689,17013087,16996565,16926030,16782755,16493581,16461331,16388320,16335952,16292494,16259977,16245312,16157221,16115819,16100012,16091738,15983124,15892123,15816617,15558324,15530854,15511229,15469480,15455729,15342556,15239346,15178565,15073129,15059978,15024713,15001984,14981900,14618612,12759243,12557222,12477932,12388760,12351514,12209613,12182416,12168675,11948127,11920587,11850444,11714809,11668187,11470832,11313993,10953015,10103110,9565552,9341124,9314546,8824254,8548761,7531707,7524681,7499434,2466295,1719530,1707164,1385416,1279805,9548928,11029766,7537970,7693733,8798654,7523411,7694284,7559467 3371 NM_002160,AL162425,CH471090,AB210038,BC151843,BP278052,BQ575939,BQ880861,BX641111,CR623953,CX871573,M24630,M55618,X56160,X78565 NP_002151,CAI15110,EAW87434,EAW87435,BAE06120,AAI51844,CAE46051,AAA52703,AAA88083,CAA39628,CAA55309,P24821,Q4LE33,Q5T7S3,Q6MZI1 Hs.143250 GDB:120073 HXB|MGC167029|TN protein-coding 1344192 TNF tumor necrosis factor (TNF superfamily, member 2) This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. 1580315,1580296,1580320,1580322,1580208,1580311,1580205,1580209,1624967,1580313,1580214,1580321,1580210,1580314,1580317,1580207,1580312,1580310,1580604,1580863,1580316,1580318,2292150,1626412 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1580315,1580296,1580320,1580322,1580208,1580311,1580209,1624967,1580313,1580214,1580321,1580210,1580314,1580317,1580207,1580312,1580310,1580604,1580316,1580318,2292150,1626412 7124 NM_000594,NG_007462,AB088112,AB103618,AB202113,AF129756,AJ249755,AJ270944,AL662801,AL662847,AL929587,AY066019,AY214167,AY799806,BA000025,BX248519,BX927320,CH471081,CR753892,CR942185,CS081473,M16441,M26331,X02910,Y14768,Z15026,AF043342,AF098751,AJ227911,AJ251878,AJ251879,BC028148,BI908079,M10988,X01394 P01375,Q5RT83,Q5STB3,Q9UBM5,ABM82588,ABM85775,AAC42098,NP_000585,BAC54944,BAF31279,BAE78639,AAD18091,CAB65595,CAI18292,CAI17678,CAI18649,AAL47581,AAO21132,AAV63951,BAB63396,CAI41940,CAQ09993,EAX03424,CAQ06935,CAQ07711,CAI95946,AAA61200,AAA36758,CAA26669,CAA75070,CAA78745,AAC03542,AAF71992,CAB63904,CAB63905,AAH28148,AAA61198,CAA25650 Hs.241570 GDB:120441 DIF|TNF-alpha|TNFA|TNFSF2 1643377,1643399,2289164 BW325_H,BMD5_H,BW111_H protein-coding 1346510 TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial) This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. 1580863 1370465,16565220,15489334,12600716,12477932,12039524,11929592,11849463,11791643,11704801,11702059,11591653,7536959,2406243,2233719 7126 NM_021137,AC002094,AY065346,CH471159,BC001643,BC001949,BC003694,BT020121,CR456819,CR590463,CR608286,CR615941,CR621421,CR621837,M80783 NP_066960,AAL38649,EAW51077,AAH01643,AAH01949,AAV38924,CAG33100,AAA58385,Q13829,Q5TZQ1,ABM83684,ABM86981 Hs.76090 GDB:127514 B12|B61|EDP1|MGC2317 protein-coding 1312234 TNFAIP2 tumor necrosis factor, alpha-induced protein 2 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. 1580863 1374453,12477932,10766166,8106408 7127 NM_006291,AL161669,AY273786,CH471061,BC017818,BC128449,BC128450,CR619961,M92357 NP_006282,AAP12649,EAW81805,AAI28450,AAA35582,Q03169 Hs.525607,Hs.660676 GDB:133720 B94 protein-coding 1351803 TNFAIP3 tumor necrosis factor, alpha-induced protein 3 This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. Knockout studies of a similar gene in mice suggested that this gene is critical for limiting inflammation by terminating TNF-induced NF-kappa B responses. 1580863 11463333,15169888,18164316,17982456,17962196,17961127,17886247,17297453,17259397,17081983,16936197,16824518,16816117,16684768,16474993,16306043,16164629,15862966,15661910,15489334,15474016,15258597,15251990,15231748,15142865,14754897,14748687,14574404,12965196,12794157,12477932,12167698,12080044,11594795,11573245,11390377,11389905,11009421,10755617,10435631,10385526,9928991,9882303,9299557,8797804,8702721,8692885,8663499,2406243,2118515,15601843 7128 NM_006290,AL357060,AY248754,CH471051,AL157444,AY820830,BC041790,BC064689,BC113871,BC114480,BQ002744,M59465 NP_006281,CAH72934,CAH72935,CAH72936,CAH72937,AAO61093,EAW47923,EAW47924,EAW47925,EAW47926,CAB75664,AAV71149,AAH64689,AAI13872,AAI14481,AAA51550,P21580,Q5PY18,Q5VXQ8,Q5VXQ9,Q5VXR0,Q6P281 Hs.591338 GDB:135167 A20|MGC104522|MGC138687|MGC138688|OTUD7C|TNFA1P2 protein-coding 1351235 TNFAIP5 tumor necrosis factor, alpha-induced protein 5 7129 GDB:135172 1345645 TNFAIP6 tumor necrosis factor, alpha-induced protein 6 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. The expression of this gene can be induced by tumor necrosis factor alpha and interleukin-1. The expression can also be induced by mechanical stimuli in vascular smooth muscle cells, and is found to be correlated with proteoglycan synthesis and aggregation. 1580863 1730767,18260761,17585936,16873769,16771708,16709183,16687630,16467113,16453284,16006654,15917224,15840581,15809059,15718240,15653696,15489334,14718574,14515153,12692188,12477932,12401803,11854277,11278699,9654129,8797823,8568267,7935377,7516184 7130 NM_007115,AC009311,AJ413948,AJ413949,CH471058,AF086484,AJ419936,AJ421518,BC030205,CA415298,M31165 NP_009046,AAY15067,EAX11511,CAD12353,CAD13434,AAH30205,AAB00792,P98066,Q53TI7 Hs.437322 GDB:135173 TSG6 protein-coding 1349059 TNFAIP7 tumor necrosis factor, alpha-induced protein 7 7131 GDB:136317 1314220 TNFAIP8 tumor necrosis factor, alpha-induced protein 8 1580863 10644768,17353931,14724590,16189514,15342556,14702039,12477932,10233894 25816 NM_001077654,NM_014350,AC008475,AC027320,AC035144,CH471086,AF070671,AF098933,AF098934,AF099935,AF099936,AK001850,AK001931,AK097284,AK097884,BC005352,BC007014,BE958495,BP274520,CR457137,CR611795,CR615131,CR615621 NP_001071122,NP_055165,EAW48913,EAW48914,AAC83229,AAF29435,AAC72975,AAC72976,AAH05352,AAH07014,CAG33418,O95379 Hs.656274 GG2-1|MDC-3.13|SCC-S2 protein-coding 1603272 TNFAIP8L1 tumor necrosis factor, alpha-induced protein 8-like 1 16189514,14702039,12477932 126282 NM_152362,AC005339,AC011498,CH471139,CS185650,AK024161,BC017672,BC044250 NP_689575,EAW69204,EAW69205,CAJ42831,AAH17672,Q8WVP5 Hs.465643 MGC17791 protein-coding 1606238 TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2 12477932,9373149 79626 AL592424,CH471121,AF271774,AF548003,AK027120,AK225472,AL833373,BC012013,BC063014,BI833715,CR457375,NM_024575 NP_078851,CAI16379,EAW53468,AAG44785,AAQ12262,BAB15664,CAI46145,AAH63014,CAG33656,Q6P589,Q9H2H7 Hs.432360,Hs.698675 FLJ23467 protein-coding 1604925 TNFAIP8L3 tumor necrosis factor, alpha-induced protein 8-like 3 12477932 388121 NM_207381,AC073964,CH471082,AK123281,AY517501,BC127701,BC127702 NP_997264,EAW77412,BAC85572,AAS76642,AAI27702,AAI27703,Q5GJ75 Hs.306343 FLJ41287 protein-coding 1317580 TNFRSF10A tumor necrosis factor receptor superfamily, member 10a The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. 1580863 9373179,9082980,9311998,11464292,18163425,17983809,17666396,17160022,17081983,17075118,17070520,17035413,16847314,16778114,16544055,16529749,16319225,16226105,16217763,16051735,16012731,15975957,15972852,15949439,15921376,15863153,15861184,15757891,9430227,15655781,15608691,15538968,15489334,15480430,15452120,15356269,15334061,15301860,11376335,10862756,10594023,10549288,10400625,9811967,9430228,9382840,9325248,7650480,16174727,16046522,15990565,16189514,15208670,15007095,14576771,14534720,14506242,12927928,12920112,12839575,12808117,12649168,12488957,12477932,12421985,12388693,12239152,12218097,12082627,11862476,11844843 8797 NM_003844,AC100861,CH471080,AK291299,BC012866,BT006906,U90875 NP_003835,EAW63636,BAF83988,AAH12866,AAP35552,AAC51226,O00220,Q53Y72,ABM82717,ABM85899 Hs.591834 GDB:6262156 APO2|CD261|DR4|MGC9365|TRAILR-1|TRAILR1 protein-coding 1346665 TNFRSF10B tumor necrosis factor receptor superfamily, member 10b The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracelluar death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. 1580863,2290494,2290500,2290492,2290495,2290498,2290493,2290496,2290491,2290497 9373179,9311998,9430227,11464292,14644197,12761501,10549288,8777713,10894160,18203008,18079962,18022315,17983809,17968315,17922852,17881637,17690453,17689858,17666396,17627287,17548900,17273769,17070520,17027647,16980609,16980044,16778114,16731632,16729023,16632604,16571651,16544055,16541419,16529749,16319225,16226105,16051735,16007131,16003390,15921376,15828026,15784899,15757891,15685228,15655781,15608691,15538968,15520016,15507617,15502938,15489334,15485835,15480430,15452120,15356269,15334061,15301860,15208670,15173180,15110168,14759258,14691451,14688276,14576771,14561739,14534720,14506242,12975309,12920112,12915532,12847280,12808117,12642868,12488957,12477932,12421985,12388693,12388624,12218097,12196516,12175536,11862476,11844843,11696376,11193041,10862756,10542098,10072170,9721851,9430228,9382840,9326928,9325248,9285725,9242611,9242610,16174727,16046522,15990565,15044455,16189514,15659383,15688023,15607964,12805378 2290494,2290500,2290492,2290495,2290498,2290493,2290496,2290491,2290497 8795 NM_003842,NM_147187,AB014718,AB054004,AC107959,CH471080,AF012535,AF012628,AF016266,AF016268,AF016849,AF018657,AF018658,AF020501,AF022386,AF153687,AF192548,AK291216,AL529460,AY358277,BC001281,BX537617,BX538104,BX538179,CR541898,CR593628 NP_003833,NP_671716,BAA33723,BAB39708,EAW63640,EAW63641,EAW63642,EAW63643,AAB67103,AAB67109,AAB81180,AAC01565,AAC51778,AAB70577,AAB70578,AAB71412,AAB71949,AAF75587,AAF07175,BAF83905,AAH01281,CAD97801,CAD98017,CAD98053,CAG46696,O14763,Q6FH58,Q7Z2I8,Q7Z360,Q9BY82,AAQ88644 Hs.521456 GDB:9549986 CD262|DR5|KILLER|KILLER/DR5|TRAIL-R2|TRAILR2|TRICK2|TRICK2A|TRICK2B|TRICKB|ZTNFR9 protein-coding 1350284 TNFRSF10C tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. 1580863 15990565,16174727,16046522,9314565,17690453,17522430,17265502,16980609,15921376,15916713,15538968,15489334,15340161,15301860,15207703,14999791,14623878,12975309,12808117,12488957,12477932,12417331,12390973,12136286,11859410,11848467,11844843,11024459,11001921,10435597,9613612,9551946,9373179,9325248,9242611,9242610 8794 NM_003841,AC107959,AF524869,CH471080,AF012536,AF012629,AF014794,AF016267,AF020502,AF033854,AY358281,BC017852,BC125041,BC125042,BG545631,CR541857 NP_003832,AAM82564,EAW63638,AAB67104,AAB67110,AAC05593,AAB81181,AAB71413,AAB87506,AAQ88648,AAH17852,AAI25042,AAI25043,CAG46655,O14798,Q05D71,Q6FH98 Hs.655801 GDB:9549987 CD263|DCR1|LIT|MGC149501|MGC149502|TRAILR3|TRID protein-coding 1346827 TNFRSF10D tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. 1580863 17353931,9430226,17545522,17522430,16980609,16934748,16799475,16319225,15921376,15919363,15916713,15538968,15489334,15340161,15301860,14999791,12975309,12915532,12808117,12488957,12477932,12421985,12390973,11956107,11844843,11420819,10754286,10229846,9537512,9382840,16174727,16046522,15990565 8793 NM_003840,AC100861,AC107959,CH471080,AF021232,AF021233,AF023849,AF029761,AY358285,BC052270,CD703247 NP_003831,EAW63637,AAC32765,AAC32766,AAC52053,AAD03477,AAQ88652,AAH52270,Q9UBN6 Hs.213467 GDB:9836258 CD264|DCR2|TRAILR4|TRUNDD protein-coding 1321639 TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Studies of the mouse counterpart suggest that this receptor directly mediates the osteoprotegerin ligand (OPGL)-induced osteoclastogenesis in osteoclast precursor cells. 1599463,1625350,1580863 10075662,9367155,18311801,18174230,18061491,18008334,17982618,17966895,17895323,17876645,17634140,17546619,17447113,17331078,17288531,17115234,16960694,16953816,16583245,16556708,16328004,16270354,16249885,16240334,16215261,16184196,16151677,16083856,16052586,15750601,15615497,15564564,15377473,15301860,15248232,12933809,12929927,12709501,12568416,12393586,12362049,12296995,12200385,12043011,11918537,11856640,11809792,11771666,11762937,11675352,11406619,11118297,10677500,10635328,10615125,10500098,10097072,10025951,9878548,9852070,9774460,9685412,9626621,9345096,7911698 1599463,1625350 8792 NM_003839,AC100843,CH471096,AB209762,AF018253 NP_003830,EAW63124,BAD92999,AAB86809,Q59EP9,Q9Y6Q6,AAI52907 Hs.204044 GDB:9836226,GDB:9864727 CD265|ODFR|OFE|RANK|TRANCER tumor necrosis factor receptor superfamily, member 11a, activator of nfkb protein-coding 730969 TNFRSF11B tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. 730033,1624125,1624167,1620974,1624171,1625347,1620794,1620889,1624168,1624176,1620776,1620893,1580863 12054622,9168977,9108485,18455228,18445777,18362509,18348083,18319311,18311801,18299469,18271681,18252198,18178454,18174230,18156213,18083042,18081868,18061491,18040268,18000166,17993768,17970704,17966895,17923273,17895323,17878722,17876645,17852826,17804683,17723135,17712025,17711477,17703334,17702740,17667143,17634140,17631639,17606458,17598007,17570371,17558893,17471510,17470718,17448630,17443309,17403189,17388729,17354199,17328075,17288531,17189957,17148684,17147692,17111200,16999948,16980077,16953816,16949901,16831934,16804084,16712673,16687626,16678184,16620835,16611736,16601843,16583245,16533764,16512834,16512757,16491292,16453284,16344560,16343827,16288714,16287088,16249885,16240334,16215261,16152630,16151677,16143421,16133687,16123486,15978970,15936463,15799029,15794927,15782282,15757850,15721297,15700136,15648548,15647836,15638385,15630493,15615493,15564564,15538968,15521102,15504545,15489334,15386310,15340161,15313187,15312251,15308561,15307108,15301860,15292354,15292302,15290725,15242994,15223723,15155868,15124262,15064358,15059506,14999524,14734048,14680982,14672344,14529897,14508625,14504888,12923331,12857926,12824864,12662434,12619938,12584041,12564836,12477932,12469211,12412803,12398237,12364420,12364326,12351414,12221720,12213850,12213849,12210731,12189164,12181640,12177271,12153751,12150965,12124406,12110935,12096838,12073153,12067713,12056809,12054560,12054556,12052453,11912131,11505389,11451955,11139569,11035950,10706119,9950424,9688283,9603945,9573043,9571159,9520411,9492069,9478964,9434163,9373149,8125298 730033,1624125,1624167,1620974,1624171,1625347,1620794,1620889,1624168,1624176,1620776,1620893 4982 AC107953,AP004283,AY466112,CH471060,AB002146,AF134187,AK223155,BC011023,BC030155,BM748946,BQ000897,CK903484,CR592423,DA477521,U94332,NM_002546,AB008822 BAA32076,AAR23265,EAW91978,BAA25910,AAF20168,BAD96875,AAH30155,AAB53709,O00300,ABM83190,ABM86392,NP_002537 Hs.81791 GDB:6874916 MGC29565|OCIF|OPG|TR1 protein-coding 1343569 TNFRSF12A tumor necrosis factor receptor superfamily, member 12A 1580863 10551889,17594693,17383968,17124496,17018610,16809572,16526941,16503147,16341674,15611130,15489334,15353286,15140220,14573547,12651623,12496418,12477932,12445828,11728344,10751351,16189514 51330 NM_016639,AC108134,CH471112,CS016820,AB035480,AB035481,AF191148,BC002718,BC020538,BC064377,BM842283,CR589964 NP_057723,EAW85428,EAW85429,EAW85430,CAI54172,BAA94792,BAB17850,AAF69108,AAH02718,AAH64377,Q6P2Q4,Q9NP84,ABM83894,ABM87215 Hs.355899 CD266|FN14|TWEAKR protein-coding 1343839 TNFRSF12L tumor necrosis factor receptor superfamily, member 12-like 9615223 8791 GDB:9956960 1344563 TNFRSF13B tumor necrosis factor receptor superfamily, member 13B The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. 1580863 10956646,9311921,18051214,18046446,18025170,17983875,17917015,17550853,17539903,17492055,17464555,17392798,17392797,17171762,17154264,17119122,16960154,16931039,16919470,16914324,16618819,16007087,16007086,15827134,15542592,14702039,14512299,12477932,10973284,10920230,10898980,10881172,10880535,10801128,9373149,8125298 23495 NM_012452,NG_007281,AB222991,AC104024,AL353996,CH471196,CS281878,CS281938,AF023614,AK097261,AK223453,AY302137,BC109392 NP_036584,BAE16555,EAW55728,EAW55729,CAJ90607,CAJ90609,AAC51790,BAD97173,AAP57629,AAI09393,O14836,Q32LX4,Q4ACX1,Q53F36 Hs.158341 GDB:9834791 CD267|CVID|FLJ39942|MGC133214|MGC39952|TACI|TNFRSF14B protein-coding 1354073 TNFRSF13C tumor necrosis factor receptor superfamily, member 13C B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. 1580863 18051214,18025170,17963166,17154264,17119117,16931039,16931038,16919470,16914324,16840730,16769579,16320342,16226112,16160919,15644327,15585864,14512299,12755599,12721620,12715002,12477932,12471121,12456020,12374279,11869903,11747837,11591325,11509692,11076863,10359578 115650 NM_052945,NG_007579,AB222990,CH471095,EF064710,Z99716,AF373846,BC105123,BC112030 NP_443177,BAE16554,EAW60473,ABK41893,CAI41690,AAK91826,AAI12031,Q5H8V1,Q96RJ3,AAI11586,AAI05124 Hs.344088 GDB:11502674 BAFF-R|BAFFR|CD268|MGC138235 protein-coding 1320832 TNFRSF14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor was identified as a cellular mediator of herpes simplex virus (HSV) entry. Binding of HSV viral envelope glycoprotein D (gD) to this receptor protein has been shown to be part of the viral entry mechanism. The cytoplasmic region of this receptor was found to bind to several TRAF family members, which may mediate the signal transduction pathways that activate the immune response. 1580863 9153189,9162022,9462508,11511370,17353931,18193050,17947707,17405920,17010447,16797773,16169851,16131544,15917993,15767456,15647361,15568026,15489334,15340161,15301860,15110526,14749527,12975309,12915568,12477932,12466117,12093804,11976496,11756979,11742858,11463856,11390428,10706119,9774688,9162061,8898196,16189514 8764 AY466111,CH471183,AB208808,NM_003820,AF153978,AF373877,AF373878,AK124010,AY358879,BC002794,BC018882,BC029848,CR456909,CR622712,CR625233,U70321,U81232,CR598295,CR609758,CR615544 AAR23264,EAW56089,EAW56090,EAW56091,EAW56092,EAW56093,EAW56094,BAD92045,NP_003811,AAF75588,AAL47717,AAL47718,AAQ89238,AAH02794,AAH29848,AAB58354,AAD00505,Q59HF1,Q8N634,Q92956,ABM83926,ABM87754,CAG33190 Hs.512898 GDB:9836224 ATAR|HVEA|HVEM|LIGHTR|TR2 protein-coding 1312303 TNFRSF17 tumor necrosis factor receptor superfamily, member 17 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. 1580863 8165126,10801128,1396583,18025170,17968879,17825416,16960154,16931039,16919470,15692072,15542592,15301860,14512299,12477932,11528522,10973284,10903733,10493829,8527407,12721620,15846369,10908663 608 NM_001192,AB052772,AC007216,AY509112,CH471112,U95742,Z29574,AY684975,BC058291,EF152353,EF152354,EF152355,EF152356,Z14954,Z29575 NP_001183,BAB60895,AAR84240,EAW85129,AAB67251,CAA82690,AAV92616,AAH58291,ABN42508,ABN42509,ABN42510,ABN42511,CAA78679,CAA82691,Q02223,Q13808,Q2TQ40,Q6PE46 Hs.2556 GDB:135977 BCM|BCMA|CD269 protein-coding 1604651 TNFRSF18 tumor necrosis factor receptor superfamily, member 18 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 10074428,18230609,17538882,17360848,16955181,15944293,15340161,15301860,12975309,12070049,11869690,11812990,10836847,10037686,9177197 8784 NM_148901,NM_004195,NM_148902,AL162741,CH471183,AF117297,AF125304,AF241229,AY358877,BC152381,BC152386,BE244247,BT019531,BT019532 NP_683699,NP_004186,NP_683700,CAI23246,CAI23247,CAI23248,EAW56282,EAW56283,EAW56284,AAD19694,AAD22635,AAF63506,AAQ89236,AAI52382,AAI52387,AAV38338,AAV38339,Q5T7K5,Q5T7M2,Q5U0I4,Q9Y5U5,AAI56103,AAI56965 Hs.212680 GDB:9956935 AITR|GITR|GITR-D protein-coding 1344271 TNFRSF19 tumor necrosis factor receptor superfamily, member 19 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. 1580863 12477932,12060722,10809768,17239012,17187358,15489334,15340161,15301860,12975309,10764796,7829101,15694321,15694322 55504 NM_148957,NM_018647,AL161422,AL354815,CH471075,AB040434,AF086276,AF167555,AF246998,AF246999,AK292874,AK292891,AY358888,BC035796,BC047321,BG674480,BI494770,CA437886 NP_683760,NP_061117,CAH70837,CAH70838,EAX08325,EAX08326,EAX08327,BAB03269,AAF71828,AAK28395,AAK28396,BAF85563,BAF85580,AAQ89247,AAH47321,Q5VZF6,Q5VZF7,Q5VZF8,Q5VZF9,Q9NS68 Hs.149168 GDB:10795948 TAJ|TAJ-alpha|TRADE|TROY protein-coding 737288 TNFRSF1A tumor necrosis factor receptor superfamily, member 1A The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is one of the major receptors for the tumor necrosis factor-alpha. This receptor can activate NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Antiapoptotic protein BCL2-associated athanogene 4 (BAG4/SODD) and adaptor proteins TRADD and TRAF2 have been shown to interact with this receptor, and thus play regulatory roles in the signal transduction mediated by the receptor. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. The impaired receptor clearance is thought to be a mechanism of the disease. 1624178,1624183,1624194,1624195,1624177,1624179,1624185,1624180,1624181,1624182,1624184,1624190,1580863,2292150 17431682,17346438,17324927,17267158,17234651,17200772,17105909,17075277,17051333,16859822,16732051,16731080,16580225,16533817,16463024,16447098,16289162,16282562,16277675,16260783,16234278,16227624,16216134,16195372,16153798,16142859,16134057,16043808,16043718,15949439,15943902,15851552,17530646,17477815,15842589,15818692,15817701,15787661,15692984,15586174,15542843,15526005,15502938,15492850,15489334,15485837,15457442,15301860,15289829,15288471,15274667,15251454,15188372,15146559,15071491,15063762,9115275,11684708,15465831,2158863,12761501,12189246,1698610,2848815,7758105,12887920,18338763,18337349,18333356,18248655,18243134,18206417,18174230,18163488,18078813,18058462,17921876,17852084,17785864,17763205,17693606,17688691,17686637,17665448,17665435,17564788,15041705,15018649,14872483,14743216,14728878,14702039,14694358,14671137,14610673,14585990,13130484,12913922,12911633,12887914,12879482,12858434,12832748,12818408,12811828,12786601,12768019,12748171,12748169,12730509,12706861,12690082,12661999,12651071,12644782,12610052,12601524,12559634,12530121,12500222,12477932,12391233,12376300,12353079,12220546,12209523,12209507,12147741,12115625,12107724,12105243,12082592,12049175,12040173,12017295,11985495,11961180,11947900,11937569,11934887,11920568,11909948,11904678,11882518,11861282,11801527,11786908,11755217,11737221,11676596,11606045,11598334,11562425,11528523,11522182,11443543,11212177,11196686,11175303,11163081,11098060,11072751,10911999,10902757,10875917,10848577,10755617,10706119,10634209,10359574,10356400,10339433,10199409,10187798,9915703,9753329,9642260,9585614,9563508,9557650,9510175,9126987,9045686,9038203,8939750,8934525,8906799,8808629,8612133,8565075,8387891,8077196,7995952,7901149,7876093,7664431,7601280,7156325,3001529,2170974,2158862,2153136,1702293,1655358,1648547,1331108,1315717,16189514,15659383,7852363,15247912,11226577 1624178,1624183,1624194,1624195,1624177,1624179,1624185,1624180,1624181,1624182,1624184,1624190,2292150 7132 NM_001065,NG_007506,AC006057,AY131997,CH471116,CS068582,M75866,AK056611,AK291088,AY182755,BC010140,BF528949,CR593985,CR596841,CR597821,CR606215,CR622520,M33294,M58286,M60275,M63121,A21522 NP_001056,AAM77802,EAW88805,EAW88806,CAI84622,AAA61201,AAO23979,AAH10140,AAA03210,AAA36753,AAA36756,AAA36754,P19438,Q6Y4Q7,CAA01558,ABW03836,ABW03527,BAF83777 Hs.279594,Hs.707975 GDB:125913 CD120a|FPF|MGC19588|TBP1|TNF-R|TNF-R-I|TNF-R55|TNFAR|TNFR1|TNFR55|TNFR60|p55|p55-R|p60 protein-coding 1298224 TNFRSF1B tumor necrosis factor receptor superfamily, member 1B The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. 738128,1580863,1625350,2292150 9326234,9109395,9104814,8702708,8661109,8590321,8123048,8069916,7884318,7859281,7821811,7664431,7639698,7559483,7544915,7539446,2173696,2172983,2166946,2160731,2158863,2153136,1966549,1929203,1663076,1655619,11244088,8702885,18385279,18337349,18309487,18248655,18206417,18173921,18088549,18038243,17998218,17825894,17785864,17763205,17634906,17530646,17346438,17331078,17267158,17258924,17220297,17207711,17028114,16980123,16979382,16871413,16732051,16732050,16731080,16710414,16645020,16580225,1335762,1328224,16846840,15489334,15459750,15457442,15355698,15301860,15274667,15252214,15212671,15146559,15142217,15091317,15071724,15041705,15022314,15018649,15000697,14872483,14743216,14728878,14688526,14688072,14651520,14565595,14532286,14506926,12960285,12918703,12882979,12880679,12858454,12858434,12786601,12770792,12739039,12730509,12661999,12651071,12610797,12610052,12601524,12559634,12530121,12500222,12477932,12371624,12370298,12364441,12353079,12351485,12296856,12233877,12220546,12217957,12209507,12209506,12161545,12144133,12122509,12049175,12011375,11979305,11961180,11907583,11907088,11904678,11882518,11861282,11804591,11762942,11737221,11600223,11520075,11371414,11357933,11315843,11285131,11212177,11197692,11169260,11163081,11144293,11126399,11112773,10950109,10848577,10764746,10747083,10206649,9552007,9535738,9507943,9461607,16502120,16282562,16277675,16195372,16142859,16003175,15943902,15920055,15886863,15863392,15851552,15842589,15805680,15787661,15784704,15743036,15674653,15657078,15603867,15585313,15572357,15555301,15526005,9744279,7852363 738128,1625350,2292150 7133 NM_001066,AB030949,AB030950,AB030951,AB030952,AL031276,AL357835,AY264804,AY342040,CH471130,CS068584,U52165,X80021,AY148473,BC011844,BC042167,BC052977,BT019927,M32315,M35857,M55994,S63368 NP_001057,BAA89052,BAA89053,BAA89054,BAA89055,AAO89076,AAP88939,EAW71731,EAW71732,EAW71733,EAW71734,EAW71735,CAI84623,AAC50622,CAA56324,AAN72434,AAH11844,AAH42167,AAH52977,AAV38730,AAA59929,AAA63262,AAA36755,AAB19824,P20333,Q5THJ6,Q6LBF2,Q8IVS6,Q9UIG9,Q9UIH0,Q9UIH2 Hs.256278 GDB:125914 CD120b|TBPII|TNF-R-II|TNF-R75|TNFBR|TNFR2|TNFR80|p75|p75TNFR 1643585,2289443,2289516,2289613 SGHRL1_H,BW413_H,BW442_H,BW396_H protein-coding 1316426 TNFRSF21 tumor necrosis factor receptor superfamily, member 21 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB and MAPK8/JNK, and induce cell apoptosis. Through its death domain, this receptor interacts with TRADD protein, which is known to serve as an adaptor that mediates signal transduction of TNF-receptors. Knockout studies in mice suggested that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. 1580863 16378686,15623156,15489334,15301860,14702039,14574404,12975309,12477932,11753679,11714751,11485735,9714541 27242 AL096801,NM_014452,CH471081,AB209394,AF068868,AF208860,AJ420531,AK001504,AK025399,AY358304,BC005192,BC010241,BC015466,BC017730,BC021572,BI561782,BT007420,CR457190 CAB75692,NP_055267,EAX04314,EAX04315,EAX04316,EAX04317,EAX04318,BAD92631,AAC34583,AAF64274,AAQ88671,AAH05192,AAH10241,AAH15466,AAH17730,AAH21572,AAP36088,CAG33471,O75509,Q59FR5,Q9NZD9,ABM81695,ABM84856 Hs.443577 GDB:11504599 BM-018|DR6|MGC31965 protein-coding 1344744 TNFRSF22 tumor necrosis factor receptor superfamily, member 22 94098 AY046551 GDB:11508626 1354179 TNFRSF23 tumor necrosis factor receptor superfamily, member 23 94099 AY046550 GDB:11508627 1312746 TNFRSF25 tumor necrosis factor receptor superfamily, member 25 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed preferentially in the tissues enriched in lymphocytes, and it may play a role in regulating lymphocyte homeostasis. This receptor has been shown to stimulate NF-kappa B activity and regulate cell apoptosis. The signal transduction of this receptor is mediated by various death domain containing adaptor proteins. Knockout studies in mice suggested the role of this gene in the removal of self-reactive T cells in the thymus. Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported, most of which are potentially secreted molecules. The alternative splicing of this gene in B and T cells encounters a programmed change upon T-cell activation, which predominantly produces full-length, membrane bound isoforms, and is thought to be involved in controlling lymphocyte proliferation induced by T-cell activation. 1580863 9114039,9052839,8994832,11911831,17085968,16986165,16517446,15760679,15301860,15241467,14759258,14702039,12975309,12882979,12875962,12477932,11819535,11793848,11606045,11094155,9915703,9615223,9446802,8934525,8889548,8875942 8718 U74611,NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664,AB051850,AB051851,AL158217,AY254324,CS001236,U83599,U83600,AB308321,AF026070,AF026071,AK094463,AY358309,BC117189,U75380,U75381,U78029,U83597,U83598,U94501,U94502,U94503,U94504,U94505,U94506,U94507,U94508,U94509,U94510,U94512,Y09392,U72763,BM666370 AAC50819,NP_683871,NP_683868,NP_683866,NP_683867,NP_003781,NP_001034753,BAB40662,BAB40663,CAI22152,CAI22153,CAI22154,CAI22155,CAI22158,AAO63495,CAI48017,AAB41434,AAB41435,BAF64192,AAC39556,AAB82288,AAQ88676,AAI17190,AAB39714,AAC51192,AAC51193,AAB40918,AAB41432,AAB41433,AAC51306,AAC51307,AAC51308,AAC51309,AAC51310,AAC51311,AAC51312,AAC51313,AAC51314,AAC51315,AAC51316,CAA70559,CAA70560,CAA70561,Q5T8X2,Q5T8X3,Q5T8X4,Q5T8X5,Q5T8X6,Q5T8X7,Q93038 Hs.462529 APO-3|DDR3|DR3|LARD|TNFRSF12|TR3|TRAMP|WSL-1|WSL-LR protein-coding 737374 TNFRSF4 tumor necrosis factor receptor superfamily, member 4 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. 730097,1580863 7737295,7510240,18398332,18174230,18327975,16750861,16710414,16456009,16380476,16329997,16232366,15941918,15808546,15778343,15638367,15592478,15489334,15470070,15301860,14644025,12624783,12478477,12477932,12296857,12134113,11479622,11470287,11929124,11567634,11346458,10861060,10626892,9488716,9418902,7749983,7704935,2828930 730097 7293 NM_003327,AJ277151,AL162741,CH471183,DQ118974,AW293499,BC040257,BC105070,BC105072,S76792 NP_003318,CAB96543,CAI23249,CAI23250,EAW56278,EAW56279,EAW56280,AAZ15374,AAI05071,AAI05073,AAB33944,P43489,EAW56281 Hs.129780 GDB:386498 ACT35|CD134|OX40|TXGP1L tumor necrosis factor superfamily, member 4 protein-coding 1353622 TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Overexpression of this gene has been noted in gastrointestinal tract tumors, and it is located in a gene-rich cluster on chromosome 20, with other potentially tumor-related genes. Two transcript variants encoding the same isoform, but differing in the 5' UTR, have been observed for this gene. 1580863 10655513,10470851,16189514,14500635,14657214,14634066,12975309,12794752,12761893,12477932,12471113,12466117,12397645,11994433,11911831,11780052,10318773,9872321,18376232,18256354,18251184,18006694,17968950,17687076,17493146,17393415,17010447,16210617,16040301,15661928,15627206,15489334,15475369,15301860,15215185,14697332,14688085 8771 NM_032945,NM_003823,AF217796,AL121845,AF104419,AF134240,AF217793,AF217794,AY358279,BC017065,BC034349 NP_116563,NP_003814,AAF35244,CAC03668,AAD03056,AAD29688,AAF33685,AAF33686,AAQ88646,AAH17065,AAH34349,O95407,Q5JTV3,Q6ZNJ0 Hs.434878 GDB:9956882 DCR3|DJ583P15.1.1|M68|TR6 protein-coding 737226 TNFRSF8 tumor necrosis factor receptor superfamily, member 8 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 734719,1580863 17973241,18049429,17965727,18047935,17912490,17889168,17853188,17853184,17616534,17557078,17241668,17175368,17175343,17106517,17103120,16980071,16842522,16771810,16722935,16651853,16641601,16378078,16372246,16152613,8627180,1310894,10192335,16108830,18365380,18201430,18187570,18165785,16108827,15996240,15990453,15964393,15919463,15880060,15876358,15782119,15644135,15356338,15301860,15291361,15265955,15175022,15050749,15033921,15026356,14726963,12875982,12799531,12648280,12568298,12557237,12553555,12477932,12389614,12165500,12091351,11986285,11971184,11960307,11918534,11891807,11754357,11728464,10764746,10641597,9511754,9353251,9168896,9104814,8999898,8943059,8839832,8183550,7527901,6754630,2537734,1330892,8662842 734719 943 NM_001243,NM_152942,AJ272029,AJ289159,AL357835,AY498860,CH471130,BC063482,BC073839,BC141804,D86042,M83554,S75768 NP_001234,NP_694421,CAC03488,CAC16652,AAR32099,EAW71730,AAH63482,AAH73839,AAI41805,BAA12973,AAA51947,AAD14188,P28908,Q5VXL7,Q6GMU3,Q6P4D9,Q9HCX5 Hs.1314 GDB:131547 CD30|D1S166E|KI-1 protein-coding 1312546 TNFRSF9 tumor necrosis factor receptor superfamily, member 9 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. 1580863 15618293,15489334,15353478,15340161,15308117,15301860,15031666,14716821,13130507,12645943,12516549,12477932,12384425,12356681,12101260,12009595,11970964,11828369,11804328,10604232,10556203,9607925,9541583,9464265,9418902,9207223,9045669,8088337,7622190,8262389,8639902,18024793,17878400,17878391,17309825,16710414,16596186,16232366,15941918,15638367,2784565,16189514 3604 AAB34924 AL009183,AY438976,CH471130,BC006196,L12964,U03397,NM_001561 CAB57398,AAR05440,EAW71590,AAH06196,AAA62478,AAA53133,AAB34924,Q07011,ABM83623,ABM87245,NP_001552 Hs.654459 GDB:1313740 4-1BB|CD137|CDw137|ILA|MGC2172 protein-coding 1344832 TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. 1580863 17638906,17617740,17583676,17579120,17571163,17558561,17548900,17544413,17540725,17525260,17513605,17495957,17479107,17431792,17431115,17420249,17384675,17356300,17352408,17314102,17278883,17195089,17187253,17110373,17079165,17070520,17012835,15607733,15569667,15558024,15557763,15539085,15531913,15520016,15511228,15509531,15498932,15489334,15475369,15459191,15459016,15361826,15339846,15326479,15308561,15292354,15286701,15285015,15257094,15256058,15251327,15241475,15205263,15201983,15137068,15110168,15094456,15093732,15077162,15064358,15041704,15033706,15030996,14742697,14729397,14726404,14715264,14691451,14670183,14647456,14645705,14637151,14601052,14534533,12969966,12934102,12927928,12920112,12915677,12915532,12907654,12874246,12839575,12813457,12808117,12787570,12767990,12761581,12738989,12715915,12707267,12663665,12642868,12604406,12592338,12576447,12574346,12556488,12539042,12532461,12517970,12496482,12488957,12477932,12447876,12445619,12439929,12429913,12421989,12421985,12421926,12414956,12407100,12398939,12761501,14644197,8777713,8663110,10894160,18287563,18284918,18233993,18187663,18178561,18174230,18089811,18063697,18057577,18031928,18006836,18006832,18006822,17983809,17982483,17956986,17947462,17940338,17932312,17913827,17907960,17900262,17895594,17884184,17803681,17767167,17765202,17703232,17702740,17701086,17697742,17686764,17683987,16951203,16950202,16941746,16887991,16863850,16857810,16831934,16820090,16807984,16785986,16751802,16731632,16645643,16627981,16607283,16574768,16518756,16514644,16478725,16459719,16455983,16449964,16436464,16382051,16368536,16289694,16288714,16245299,16229016,16226105,16215673,16206163,16199534,16180223,16178278,16174727,16166346,16116625,16082383,16041267,16040132,16037944,16026644,16007425,15996036,15962328,15916713,15887227,15884050,15828026,15809718,15806163,15792357,15784899,15774464,15767553,15760909,15757891,15688023,15681838,15671071,15655781,15653751,15650163,15637055,15634757,15615731,12359235,12351634,12221720,12198154,12140294,12118245,12097388,12097384,12082629,12082620,12036888,12029096,11994437,11964312,11956660,11940602,11936954,11877293,11852102,11844843,11830480,11812283,11781716,11739488,11677236,11568006,11553609,11466352,11385301,11243698,11095979,11059770,11027498,11022932,10960444,10651627,10549288,10542098,10485660,9830064,9754559,9613612,9520411,9430226,9325248,9314565,9311998,9242610,9082980,16046522,15990565,16189514,15451437,15619633 8743 NM_003810,AC007919,AC016938,AF178756,CH471052,CQ892411,EF064708,BC009795,BC020220,BC032722,BT019564,CR456895,CR594331,CR598109,DQ848564,U37518,U57059 NP_003801,EAW78465,EAW78466,EAW78467,CAH68809,ABK41891,AAH32722,AAV38371,CAG33176,ABI24016,AAC50332,AAB01233,P50591,Q5U675,Q6IBA9,ABM81799,ABM84955 Hs.478275 GDB:1318487 APO2L|Apo-2L|CD253|TL2|TRAIL protein-coding 1347343 TNFSF11 tumor necrosis factor (ligand) superfamily, member 11 This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. 1625350,1580863 16270354,16249885,16240334,16234249,16220542,16215261,16144909,16143421,16133687,16109714,16052586,15972386,15894268,15794927,15732858,15731115,15722361,15710592,15671541,15615497,15615493,15613999,16317958,9568710,9312132,9367155,17241109,10708588,18445777,18381203,18362509,18311801,18271850,18174230,18073309,18061491,17993768,17982618,17970704,17966895,17895323,17881498,17876645,17852826,17703334,17702740,17667143,17634142,17634140,17632511,17620507,17606458,17593489,17572386,17560137,17558893,17520299,17506059,17448630,17331078,17328075,17328065,17288531,17197168,17195907,17151927,17133360,17053039,17042716,17018528,16969487,16953816,16925460,16861684,16730419,16704959,16700737,16681444,16612568,16583245,16572175,16533764,16522681,15564564,15554353,15489334,15476205,15377473,15322748,15313187,15304486,15292354,15290725,15221493,15205949,15044512,14751235,14734048,14699143,12975380,12954625,12923331,12824189,12817763,12756027,12702561,12698202,12682046,12619938,12574344,12564836,12477932,12469211,12393684,12393586,12364326,12221720,12043011,11792569,11741951,11606048,10635328,10580503,10224132,9520411,9396779,15320903,15449141 1625350 8600 NM_033012,NM_003701,AL139382,CH471075,CS110677,AA504211,AB037599,AB061227,AB064268,AB064269,AB064270,AF013171,AF019047,AF053712,BC040889,BC074823,BC074890,BC117286,BC117288 NP_143026,NP_003692,CAI16926,EAX08679,EAX08680,EAX08681,CAJ09926,BAA90488,BAB71768,BAB79693,BAB79694,BAB79695,AAC51762,AAB86811,AAC39731,AAH74823,AAH74890,AAI17287,AAI17289,O14788,Q54A98,Q5T9Y4 Hs.333791 GDB:9836347 CD254|ODF|OPGL|OPTB2|RANKL|TRANCE|hRANKL2|sOdf protein-coding 1350160 TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. 1580863 14961121,9560343,18174230,17981571,17918252,17548657,17383968,17178215,17124496,17018610,16888023,16526941,16503147,15735761,15681834,15611130,15604260,15489334,15353286,15140220,15056843,12975309,12787562,12496418,12477932,12445828,12421989,11839778,11777967,11728344,11094155,10706675,10085077,9405449,16189514 8742 NM_003809,AB222993,AC016876,CH471108,AF030099,AF055872,AY358870,BC019047,BC071837,BC104420 NP_003800,BAE16557,EAW90179,AAC51923,AAC39724,AAQ89229,AAH19047,AAH71837,AAI04421,O43508,Q4ACW9,Q6IPN8 Hs.54673 GDB:9956792 APO3L|DR3LG|MGC129581|MGC20669|TWEAK protein-coding 1601902 TNFSF12-TNFSF13 TNFSF12-TNFSF13 This gene encodes a member of the tumor necrosis factor superfamily. It encodes a hybrid protein composed of the cytoplasmic and transmembrane domains of family member 12 fused to the C-terminal domain of family member 13. The hybrid protein is membrane anchored and presents the receptor-binding domain of family member 13 at the cell surface. It stimulates cycling in T- and B-lymphoma cell lines. 15846369,12411489,12370363,11571266,11565755,10973284,10956646,10706119,9743536 407977 NM_172089,AC016876,AI954750,AY081051,BQ016244 NP_742086,AAL90443,Q8IZK7,AAI56812 Hs.54673 TWE-PRIL protein-coding 1314162 TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. 1580863 9743536,14988498,18204790,18046446,17968879,17942754,17896803,17768131,17569747,17353162,17307753,17190854,17178712,17119122,16931039,16919470,16916610,16914324,16793914,16239971,16094704,16087247,15981083,15860672,15851487,15846369,15827134,15542592,15489334,15488762,15105291,15070697,14978135,14702039,14691452,14607922,14504101,12975309,12730512,12477932,12411489,12370363,12154359,12070306,11571266,10973284,10956646,10706119,10662545,10331498,9373149,8125298,11565755 8741 NM_003808,NM_172088,NM_172087,AB222992,AC016876,AF513501,AF046888,AF114011,AF114012,AF114013,AF136294,AF184972,AK090698,AK225556,AY081050,AY358880,AY377858,BC008042,BI910977,BT019561,BT019562,CR542040,CR542073,DQ149579,EF211088 NP_003799,NP_742085,NP_742084,BAE16556,AAM47279,AAC61312,AAF59828,AAF59829,AAF59830,AAD29422,AAF01321,AAL90442,AAQ89239,AAQ91388,AAH08042,AAV38368,AAV38369,CAG46837,CAG46870,ABA39072,ABQ88322,O75888,Q2QBA2,Q541E1,Q5U0G8,Q6FGN4,Q6FGR7,Q6U6I7,Q8IZK7,Q8NFH7 Hs.54673 GDB:9956788 APRIL|CD256|TALL2|TRDL-1|UNQ383/PRO715|ligand protein-coding 1345205 TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. 1580863 10359578,10908663,18249037,18204790,18174230,18064389,18050196,17947475,17942754,17908986,17907168,17896803,17825416,17640886,17592744,17584580,17556024,17530706,17469105,17442944,17393290,17346422,17296586,17257595,17119117,16931039,16931038,16931037,16919470,16916610,16916609,16914324,16863659,16840730,16838132,16825497,16818641,16802367,16740602,16623930,16604261,16547227,16507129,16497967,16475789,16356193,16304043,16301744,16239971,16052575,15981083,15860672,15843552,15827134,15728515,15634908,15542592,15489334,15470519,15358625,15251985,15230285,15070697,14978135,14673998,14630796,14607922,14504101,12975309,12867412,12865416,12755599,12721620,12715002,12531790,12477932,12424625,12408045,12389615,12370363,12351410,12154359,12149433,12115621,11862220,11853672,11827482,11823048,11714784,11509692,11509691,10973284,10801128,10661873,10398604,10347144,10331498 10673 NM_006573,AB073225,AL157762,CH471085,AF116456,AF132600,AF134715,AF136293,AF186114,AW151367,AW963062,AY129225,AY129226,AY129227,AY129228,AY302751,AY358881,BC020674,BI818459,BQ776352,CR541818 NP_006564,BAB90856,CAH70631,EAX09099,EAX09100,EAX09101,AAD25356,AAD21092,AAF60219,AAD29421,AAF01432,AAN08421,AAN08422,AAN08423,AAN08424,AAP83164,AAQ89240,AAH20674,CAG46617,Q6FHD6,Q7Z5J2,Q8IZI4,Q8IZI5,Q8IZI6,Q9Y275,ABM82339,ABW03435 Hs.525157,Hs.596110 GDB:9958124 BAFF|BLYS|CD257|DTL|TALL-1|TALL1|THANK|TNFSF20|ZTNF4 protein-coding 1352930 TNFSF14 tumor necrosis factor (ligand) superfamily, member 14 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. 1580863 12393901,9765287,10799510,18320356,17938804,17826757,17652173,17543278,17010447,16934497,16861346,16186421,15944326,15917993,15895390,15833878,15634882,15489334,15215185,15210782,15115612,12975309,12768436,12767529,12571250,12477932,12471113,12466117,12456019,12215452,11994433,11748260,11742858,11714797,11673523,11390428,11035077,10318773,9739048,9560343,9462508,16091223,12836198,11000208,16189514 8740 NM_003807,NM_172014,AC008760,AF542509,CH471139,AF036581,AF064090,AK292037,AY028261,AY358812,BC018058,CR541854,CR541871 NP_003798,NP_742011,AAN34658,EAW69072,EAW69073,AAC39563,AAC25169,BAF84726,AAK26160,AAQ89171,CAG46652,CAG46669,O43557,Q6FHA1,AAI52849 Hs.129708 GDB:9836424 CD258|HVEML|LIGHT|LTg|TR2 protein-coding 737096 TNFSF15 tumor necrosis factor (ligand) superfamily, member 15 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. An additional isoform encoded by an alternatively spliced transcript variant has been reported but the sequence of this transcript has not been determined. 1580863 11911831,12345,9872942,18422820,18338776,18287561,17935696,17663424,17513783,17371957,17030188,16966713,16604264,16221758,16061878,15760679,15207783,14568967,12882979,12477932,11923219,11739281,10597252,9880523,9434163 9966 AL390240,CH471090,AF039390,AF520785,AK291642,AY434464,BC069435,BC074940,BC074941,BC104462,NM_005118,BC104463 NP_005109,CAH73730,CAH73731,EAW87431,AAD08783,AAM77366,BAF84331,AAR98573,AAH69435,AAH74940,AAH74941,AAI04463,AAI04464,O95150 Hs.241382 GDB:9958532 MGC129934|MGC129935|TL1|TL1A|VEGI|VEGI192A protein-coding 1312875 TNFSF18 tumor necrosis factor (ligand) superfamily, member 18 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. 1580863 10074428,18040044,17914571,17602748,17449724,17360848,16955181,16874737,16397134,16179414,15489334,15326137,14521928,12975309,12477932,10037686 8995 NM_005092,AL031599,CH471067,CQ968998,AF117713,AF125303,AY358868,BC069111,BC069319,BC093986,BC112032,BX473859 NP_005083,EAW90937,CAI38637,AAD19695,AAD22634,AAQ89227,AAH69111,AAH69319,AAH93986,AAI12033,Q6ISV1,Q9UNG2 Hs.248197 GDB:9958050 AITRL|GITRL|MGC138237|TL6|hGITRL protein-coding 1345164 TNFSF4 tumor necrosis factor (ligand) superfamily, member 4 (tax-transcriptionally activated glycoprotein 1, 34kDa) The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF4/OX4. It is found to be involved in T cell antigen-presenting cell (APC) interactions. In surface Ig- and CD40-stimulated B cells, this cytokine along with CD70 has been shown to provide CD28-independent costimulatory signals to T cells. This protein and its receptor are reported to directly mediate adhesion of activated T cells to vascular endothelial cells. 1580396,1580863 7913952,18356244,18174230,18060034,18059267,17666213,17584577,17185358,17166734,17016617,16924108,16710414,16275760,16272289,15750594,15470070,15356117,15218969,15100674,15034038,12798307,12624783,12477932,12134113,11346458,11197696,11069062,10358148,9862675,9603911,9418902,9378971,9108415,8642328,8076595,1996093 1580396 7292 CR542033,D90224,X79929,NM_003326,AB007839,AB042988,AL022310,CH471067,BC041663,BQ007105 CAG46830,BAA14259,CAA56284,P23510,Q5JZA5,Q6FGS4,Q8IV74,NP_003317,BAA31196,BAB18304,CAA18438,CAI20416,EAW90938,EAW90939,EAW90940,AAH41663 Hs.181097 GDB:127735 CD134L|CD252|GP34|OX-40L|OX4OL|TXGP1 protein-coding 1351958 TNFSF8 tumor necrosis factor (ligand) superfamily, member 8 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. 1580863 8391931,16964309,16372246,12553555,12477932,11960307,11754357,11751393,11728464,10878352,9558389,9524575,9349718,8161776,7528856 944 NM_001244,AF006381,AF006382,AF006383,AF006384,AL133412,CH471090,AL583443,BC093630,BC111939,L09753 NP_001235,AAB97877,EAW87432,EAW87433,AAH93630,AAI11940,AAA74594,P32971,Q5TCT9 Hs.654445 GDB:215625 CD153|CD30L|CD30LG|MGC138144 protein-coding 1343892 TNFSF9 tumor necrosis factor (ligand) superfamily, member 9 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF9/4-1BB, which is a costimulatory molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process, and in the generation of cytotoxic T cells. This cytokine is also shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is found to be expressed in various carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction. 1580863 8088337,18026115,17977894,17855813,17496895,16970683,16596186,16287062,16204238,15489334,15031666,14752253,14746806,13130507,12645943,12590704,12477932,11994439,11564827,10946324,10850651,10528187,9607925,9418902,9045669,8405064 8744 NM_003811,AC010503,CH471139,AI357267,BC104805,BC104807,BM790119,CR624086,U03398 NP_003802,EAW69076,EAW69077,AAI04806,AAI04808,AAA53134,P41273 Hs.1524 GDB:9835938 4-1BB-L protein-coding 1346178 TNIK TRAF2 and NCK interacting kinase Germinal center kinases (GCKs), such as TNIK, are characterized by an N-terminal kinase domain and a C-terminal GCK domain that serves a regulatory function (Fu et al., 1999 [PubMed 10521462]).[supplied by OMIM] 1580863 10521462,17192257,15489334,15342639,15144186,12477932,12168954,10373574,9628581 23043 NM_015028,AC026315,AC078793,AC092919,AC137517,CH471052,AB011123,AB017115,AF172264,AF172265,AF172266,AF172267,AF172268,AF172269,AF172270,AF172271,AK026470,AK291056,BC018093,BC019081,BC055427,BC150256 NP_055843,EAW78483,EAW78484,EAW78485,EAW78486,EAW78487,EAW78488,EAW78489,EAW78490,EAW78491,EAW78492,EAW78493,EAW78494,BAA25477,BAA76518,AAF03782,AAF03783,AAF03784,AAF03785,AAF03786,AAF03787,AAF03788,AAF03789,BAF83745,AAH19081,AAH55427,AAI50257,Q7Z4L4,Q9UKE5,Q9Y6Z1 Hs.34024 AD 2 protein-coding 1319697 TNIP1 TNFAIP3 interacting protein 1 1580863 16344560,16189514,15489334,15342556,15231748,14743216,14526201,12965196,12927788,12477932,12220502,12168954,10385526,9687515,8681136,7788527,11090181,9923610,17135485,17016622,16964243,16713569,16684768,16601202 10318 NM_006058,AC008641,CH471062,AB177543,AB177544,AB252970,AB252971,AB252972,AB252973,AB252975,AB252976,AB252977,AB252978,AB252979,AB252980,AB252981,AB252982,AJ011895,AJ011896,AK074400,AK290999,AW612566,AY012155,BC007666,BC012133,BC014008,BP254790,BX640647,CR597905,CR604663,CR613241,D30755,DA752275,DA810872,U39403,U83844 NP_006049,EAW61688,EAW61689,EAW61691,BAF34946,BAF34947,BAF48787,BAF48788,BAF48789,BAF48790,BAF48792,EAW61690,BAF48793,BAF48794,BAF48795,BAF48796,BAF48797,BAF48798,BAF48799,CAA09855,BAF83688,AAG42154,AAH12133,AAH14008,CAE45793,BAA06416,AAC99999,AAB41438,Q05KP3,Q05KP4,Q15025,Q6N077,Q7Z772,ABM84393,ABM87339,CAA09856 Hs.543850 GDB:9784748 ABIN-1|KIAA0113|NAF1|VAN protein-coding 1317070 TNIP2 TNFAIP3 interacting protein 2 TNIP2 binds to the C-terminal zinc finger domain of A20 (TNFAIP3; MIM 191163) and is involved in activation of the ERK (see MAPK3; MIM 601795) MAP kinase pathway in various cell types (Van Huffel et al., 2001 [PubMed 11390377]; Papoutsopoulou et al., 2006 [PubMed 16633345]).[supplied by OMIM] 12477932,12080044,11390377,11389905,10385526,12595760,14653779,15169888,17038805,16633345,16554025,16480954,14743216,14702039,12933576,12753905,12609966 79155 NM_024309,AL110117,AL121750,CH471131,AF372839,AJ304866,AK026176,AK096296,BC002740,CR591629,CR592080,CR602013,CR617764,CR624012 NP_077285,EAW82514,EAW82515,EAW82516,AAM21315,CAC34835,BAB15382,AAH02740,Q8NFZ5 Hs.368551 GDB:11510758 ABIN-2|ABIN2|FLIP1|KLIP|MGC4289 protein-coding 1346864 TNIP3 TNFAIP3 interacting protein 3 17485448,17088249,14702039,11345586,14743216 79931 NM_024873,AC105254,CH471056,AF277289,AJ320534,AK024815,AK290409,BC128408,EF585496 NP_079149,EAX05263,EAX05264,EAX05265,AAL02151,CAC85929,BAB15018,BAF83098,AAI28409,ABQ40006,Q96KP6 Hs.208206 ABIN-3|FLJ21162|LIND protein-coding 1320828 TNK1 tyrosine kinase, non-receptor, 1 TNK1 is a nonreceptor tyrosine kinase. These kinases, like members of the SRC (MIM 190090) and JAK (see MIM 147795) families, mediate intracellular signaling downstream of receptor activation.[supplied by OMIM] 1580863 16344560,15489334,12477932,9373149,8125298,15778465,17471239,10873601,8632913 8711 NM_003985,AC113189,AF097738,CH471108,AI810287,AK225403,BC035782,CR623896,DB287365,U43408 NP_003976,AAC99412,EAW90203,EAW90204,AAH35782,AAC50427,Q13470,ABM82156,ABM85340 Hs.203420 GDB:9956715 MGC46193 protein-coding 1346409 TNK2 tyrosine kinase, non-receptor, 2 This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. 1580863 8497321,10360579,10587647,18262180,17494760,17109515,17081983,17038317,16777958,16316319,16288044,16247015,16137687,15951569,15592455,15489334,15308621,15146197,15123659,14733946,14506255,12522270,12477932,11394904,11278436,11087735,10882715,10684602,10652228,9373149,8647288,8125298,11700021,16189514 10188 NM_005781,NM_001010938,AC124944,CH471280,AB209338,AK024904,AK126712,AK127455,AK131539,AK225786,BC008884,BC020389,BC028164,BE676668,BG742978,CN411136,L13738 NP_005772,NP_001010938,EAW50333,EAW50334,EAW50335,EAW50336,EAW50337,BAD92575,BAD18675,AAH08884,AAH28164,AAA53570,Q07912,Q59FX1,AAI56799 Hs.518513 ACK|ACK1|FLJ44758|FLJ45547|p21cdc42Hs protein-coding 1343497 TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 1580863 9822378,12768206,17026964,17561506,16884355,16132700,16076287,15795250,15133513,15064417,14966275,14596906,12477932,12475993,12381316,12080061,11854288,11802774,11739745,11278563,10988299,10523501,10198177,9110174,8619474,11382755 8658 NM_003747,AC021242,AC103834,AC103877,AC104052,CH471157,AB209339,AF070613,AF082556,AF082557,AF082558,AF082559,AL706619,BC023578,BC098394 NP_003738,EAW65579,EAW65580,BAD92576,AAC79841,AAC79842,AAC79843,AAC79844,AAH98394,O95271,Q4G0F2,Q59FX0 Hs.370267 GDB:9956164 PARP-5a|PARP5A|PARPL|TIN1|TINF1|TNKS1 protein-coding 1323786 TNKS1BP1 tankyrase 1 binding protein 1, 182kDa 1580863 11854288,17617028,17081983,16964243,16244666,15652747,15345747,15302935,12693554,12477932,12168954,12080061,11214970 85456 BC046216,BC150333,CR607285,CT003184,NM_033396,AP000781,CH471076,AA614752,AB051528,AF441771,AK074113,AK124903,AK127871,BC023622 AAH46216,AAI50334,Q86TK2,Q9C0C2,NP_203754,EAW73731,EAW73732,EAW73733,BAB21832,AAM15531,BAB84939,BAC85989,AAH23622 Hs.530730 GDB:11510262 FLJ45975|KIAA1741|TAB182 protein-coding 1312811 TNKS2 tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 1580863 16151859,15795250,15164054,14702039,12080061,11854288,11802774,11739745,11454873,11294570,11278563,11205898 80351 NM_025235,CH471066,AF264912,AF305081,AF309033,AF329696,AF342982,AF438201,AK023746,AL833676,CR595012 NP_079511,EAW50105,AAG44694,AAG25674,AAK82330,AAK13463,AAK25811,AAL40795,BAB14665,Q9H2K2,AAI48499,AAI56932 Hs.329327 GDB:11508048 PARP-5b|PARP-5c|PARP5B|PARP5C|TANK2|TNKL protein-coding 731806 TNMD tenomodulin 1580863 17495183,15772651,15342556,12975309,12477932,11357195,11162673,11162640 64102 AF234259,AF291656,AY358706,BC034030,BP319044,NM_022144,AL035608,CH471115,AB055421,AF191770 AAG49144,AAK83109,AAQ89069,AAH34030,Q6PIH9,Q9H2S6,NP_071427,EAX02806,EAX02807,EAX02808,BAB21756,AAG28395 Hs.132957 BRICD4|CHM1-LIKE|CHM1L|TEM protein-coding 1314366 TNN tenascin N 1580863 17909022,16710414,16335952,15592496,12812753 63923 NM_022093,CH471067,Z99297,Z99715,AK127044,AK127654,AL049689 NP_071376,EAW90986,CAI19966,CAB41260,Q9UQP3 Hs.156369 TN-W protein-coding 1320524 TNNC1 troponin C type 1 (slow) 1580739 17693547,17446435,17021793,16302972,16157641,16157639,15808858,15628883,15524171,15489334,15147183,15134451,15049709,12939162,12840750,12732641,12477932,12122471,12060657,12044157,11904166,11385718,9560191,9448267,9346285,9315850,9219516,8995486,8987992,7103951,3951483,3166492,1907279,16189514,7957210,11735257,15542288,8205619,2250022,10850966,12093807,18092822,18063575,18042489,18032382,17977476 1580739 7134 NM_003280,AC006208,CH471055,M37984,AF020769,BC030244,CR541865,CR541885,X07897 NP_003271,EAW65226,EAW65227,AAA36772,AAB91994,AAH30244,CAG46663,CAG46683,CAA30736,P63316,Q6FH91,ABM81952,ABM85132 Hs.118845 GDB:125307 CMD1Z|TNC|TNNC troponin c, slow protein-coding 1323707 TNNC2 troponin C type 2 (fast) Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. 1580863 17194691,2373703,15489334,12477932,11780052,9560191,9459007,9016781,7869399,3166492,978749,1907279 7125 NM_003279,AL050348,CH471077,M33772,AI080746,AK291323,BC005323,BU854061,CR541864,CR541884,M22307,X07898 NP_003270,CAB66117,CAC36110,EAW75802,EAW75803,AAA61197,BAF84012,AAH05323,CAG46662,CAG46682,AAA91854,CAA30737,P02585,Q6FH92,Q9BQN9 Hs.182421 GDB:578903 protein-coding 732918 TNNI1 troponin I type 1 (skeletal, slow) Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. 1580863 2365354,17099250,17051347,16381901,16005017,15489336,15489334,15289369,14702039,12857748,12815045,12477932,12044157,11230166,11076863,9724539,9373149,9016781,8144655,8125298,2341402,1959627,1934363,15367881,16338262,16358990,16916777,16236952,12809519,16189514,8987992 7135 NM_003281,AC096677,CH471067,L21910,AJ315823,AK123965,AK223588,AL831820,AL831975,AL832006,BC012600,BC012601,BI825503,BX510903,CR450301,CR541996,CR542030,J04760 NP_003272,EAW91365,EAW91366,EAW91367,EAW91368,AAC14461,CAC44240,BAD97308,CAD38534,CAH56221,AAH12600,AAH12601,CAD91135,CAG29297,CAG46793,CAG46827,CAL37688,ABM83744,ABM87063,AAA61228,P19237,Q659A5,Q6FGS7,Q6FGW1,Q6ICU2,Q86T57,Q96DT9 Hs.320890 GDB:120443 DKFZp451O223|SSTNI|TNN1 troponin i, slow isoform protein-coding 1344978 TNNI2 troponin I type 2 (skeletal, fast) 1599481,1580863 17194691,18331830,17393089,16802141,16338248,15489334,15289369,12809519,12592607,12477932,11470454,10721725,10077564,9724539,9560191,9448267,9016781,8987992,8681137,8148383,7118902,7103951,6847627,4369265,2365354,15967462 1599481 7136 NM_003282,AC051649,AJ245761,CH471158,BC032148,BQ926240,F36243,L21715 NP_003273,CAB59981,EAX02467,EAX02468,EAX02469,AAH32148,AAA19813,P48788,ABM82908,ABM86098 Hs.523403 GDB:125308 AMCD2B|DA2B|FSSV troponin i, skeletal, fast protein-coding 737204 TNNI3 troponin I type 3 (cardiac) Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). 1580419,1580420,1580421,1580422,1580863 10806205,12809519,7957210,12721663,11735257,15542288,11815426,16754800,10850966,12093807,18403758,18381864,18175163,18094010,18092822,18042776,18042489,18032382,17594788,17587709,17303066,17140583,17101185,16916777,16887211,16765375,16516408,16358990,16338262,16338248,16302972,16288990,16236952,16199542,16157639,15961398,15867176,15718266,15698845,15607392,15604421,15601779,15367881,15350489,15257080,15147183,15134451,15070570,15049709,14661957,14596793,14575308,14551240,12974739,12967628,12939162,12840750,12826210,12803836,12732641,12707239,12626203,12531876,12525172,12477932,12383268,12270775,12242268,12151382,12122471,12060657,12044157,11984006,11904166,11853553,11801593,11596911,11121119,10387074,10191089,9605869,9560191,9373149,9346285,9241277,9219516,8798526,8661099,8406024,8125298,2584239,2226863,2226790,1959915,1934363,14673499 1580419,1580420,1580421,1580422 7137 NM_000363,NG_007866,AC010327,X90780,AK223451,BC096165,BC096166,BC096167,BC099631,BT019517,CR541985,CR542012,M64247,X54163 NP_000354,CAA62301,BAD97171,AAH96165,AAH96166,AAH96167,AAH99631,AAV38324,CAG46782,CAG46809,AAA16157,CAA38102,P19429,Q6FGU5,Q6FGX2 Hs.709179 GDB:125309 CMD2A|CMH7|MGC116817|TNNC1|cTnI troponin 1, type 3 protein-coding 1345235 TNNI3K TNNI3 interacting kinase 1302422 12721663,18205602,17660584,15815621,15489334,12477932 1302422 51086 NM_015978,NM_001112808,AC093158,AC098692,AC105271,AC119672,BX470253,CH471059,DQ822519,AF116826,AY303691,BC032865,BC113539,BC117262,BX640903,AB208941 NP_057062,NP_001106279,EAX06415,ABG46944,AAD29632,AAP72030,AAH32865,AAI13540,AAI17263,CAE45949,Q59H18,BAD92178 Hs.480085 CARK|MGC142099|MGC33828 protein-coding 733051 TNNT1 troponin T type 1 (skeletal, slow) This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. 737736,1580863 1505979,1473264,15967462,15665378,18032382,10952871,16189514,15761153,15495263,15489334,12477932,11904166,10601315,10529204,10451243,10191089,9724539,9448267,8987992,8681137,8403232,8135831,6822572,3611073,2824479,2687327,1706783,1551677 737736 7138 BC022086,BC034143,BC107798,BT019630,CR591342,CR615279,DC385695,F34258,M19308,M19309,S51938,S69208,S69209,NM_003283,NM_001126132,NM_001126133,AC010327,AJ011712,AJ011713,CH471135,S66057,AK291352,AK308199,AY762903,AY762904,BC007074,BC010963 AAH22086,AAH34143,AAI07799,AAV38436,AAA61205,AAA61204,AAB30272,AAB30273,P13805,Q05DL6,Q3B759,Q56R93,Q56R94,Q5U0E1,NP_003274,NP_001119604,NP_001119605,CAA09750,CAA09751,CAA09752,EAW72336,EAW72337,EAW72338,EAW72339,AAD13978,BAF84041,AAX07831,AAX07832,AAH07074,AAH10963 Hs.631558 GDB:125310 ANM|FLJ98147|MGC104241|STNT|TNT|TNTS troponin t1, skeletal, slow protein-coding 732398 TNNT2 troponin T type 2 (cardiac) The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. 1559062,1580232,1580434,1580439,1580440,1580441,1580442 8205619,10850966,15542288,12186860,15923195,16754800,18403758,18065785,18037101,18032444,18032382,17891611,17848144,17672918,17612745,17512511,17289431,17101185,16882671,16789403,16776629,16716613,16651346,16338248,16199542,16115869,15950076,15769782,15759546,15673967,15604421,15568820,15563892,15524172,15524170,15387941,15226628,14986170,14736877,14722098,14702039,14636924,12974739,12923187,12881443,12840750,12832403,12819028,12760310,12732643,12707239,12477932,12473556,12206807,12093807,12087140,12084606,11967535,11931771,11857753,11684629,11262409,11106718,11034944,10978365,10610467,10529204,10525521,10451243,10405326,9714088,9560191,9482583,9219516,9140840,9060892,8989109,8798526,8576938,8521556,8344420,8088824,7981753,7898523,7895342,7534662,7498159,6746613,6205765,3581171,2584239,16189514,6822572 1559062,1580232,1580434,1580439,1580440,1580441,1580442 7139 X79859,X79861,X83743,NM_001001431,NM_001001430,NM_000364,NG_007556,AC119427,AF004415,AF004422,AY044273,AY160216,CH471067,NM_001001432,EF179183,S71128,Y09626,Y09627,Y09628,AK055533,AK125236,AK290621,AL832707,AY277394,BC002653,L40162,S64668,S71126,X74819,X79855,X79856,X79858 CAA56239,CAA56240,P45379,Q15607,Q15608,Q6ZUX4,Q7Z554,Q8IZA1,Q9BUF6,NP_001001432,NP_001001431,NP_001001430,NP_000355,AAC39590,AAK92231,AAN71651,EAW91353,EAW91354,EAW91355,EAW91357,EAW91358,EAW91359,EAW91360,EAW91361,EAW91362,ABN05286,AAB30957,CAA70839,CAA70840,CAA70841,BAC86093,BAF83310,AAP96757,AAH02653,AAA67422,AAB27731,AAB30956,CAA52818,CAA56235,CAA56236,CAA56238,EAW91356 Hs.533613 GDB:221879,GDB:9836217 CMH2|CMPD2|MGC3889|TnTC|cTnT troponin t2 protein-coding 737137 TNNT3 troponin T type 3 (skeletal, fast) 1599490,1580863 12761854,17194691,8987992,9724539,15507453,16344560,16169070,16081096,15967462,15489334,14702039,12865991,12477932,9508073,9012416,8838323,8681137,8172653,8062920,7118902 1599490 7140 NM_001042780,NM_001042781,NM_006757,NM_001042782,AC051649,AF026276,CH471316,AI161366,AJ571879,AK056968,BC050446,BC062430,BC117327,BT019997,BX640689,CR541927,DA897990,DQ778624,F26088,M21984,U14641,U14642,U14643,U14644,DA899275 NP_001036245,NP_001036246,NP_006748,NP_001036247,AAF21629,EAW50569,AAH50446,AAH62430,AAI17328,AAV38800,CAE45814,CAG46725,ABG77458,AAA36777,AAA50359,AAA50360,AAA50361,AAA50362,P45378,Q17RG9,Q6FH29,Q6N056,Q6P670 Hs.73454 GDB:350962,GDB:9837611 AMCD2B|DA2B|DKFZp779M2348|FSSV troponin t3 protein-coding 733923 TNP1 transition protein 1 (during histone to protamine replacement) Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM] 1580863 12743712,11315969,10781074,17852044,16989827,16291974,15489334,12477932,9809674,8019440,3412903,3382664,2250010,2249851,2040274 7141 NM_003284,AB281700,AC007557,CH471063,M59924,BC029516,CR601312,X07948 NP_003275,BAF36709,AAX88913,EAW70577,AAA61202,AAH29516,CAA30774,P09430,Q4ZG82 Hs.3017 GDB:125311 TP1 transition protein 1 protein-coding 736031 TNP2 transition protein 2 (during histone to protamine replacement) 1580863 17852044,16989827,16291974,12775710,12477932,10659848,9809674,8961924,8428967,7983046,7711033,2250010,1395729,1385303 7142 NM_005425,AB281701,AC009121,AF215715,CH471112,L03378,U15422,Z46940,AI220577,BC096135,BC096136,BC096137,BX282422,X63758,X63759 NP_005416,BAF36710,AAF35854,EAW85161,EAW85162,AAA61203,AAC50488,CAA87067,AAH96135,AAH96136,AAH96137,CAA45290,CAA45291,Q05952,Q4VB54,Q4VB56 Hs.513349 GDB:125312 MGC116783|MGC116785 transition protein 2 protein-coding 1318103 TNPO1 transportin 1 This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. 1631159,7604027,8808633,10353245,9144189,17997969,17936704,16704975,15507604,15489334,15342649,15037768,14702039,12905863,12620808,12614157,12551970,12477932,12414950,12368302,11824786,11774384,11682607,11389849,11278458,11035935,10888652,10875935,10860744,10772949,10688363,10668806,10525473,10366569,10202161,9891055,9817747,9687515,9632798,9621063,9582382,9562972,9463369,9436978,9430704,9405152,9366553,9298975,9275210,9202393,8986607,8521471,8105392 3842 NM_002270,NM_153188,AC008953,AC008972,AC035140,CH471084,AK055669,AK124768,BC040340,CR592982,U70322,U72069,U72395 NP_002261,NP_694858,EAW95713,EAW95714,EAW95715,AAH40340,AAC50723,AAB58254,AAB68948,Q92973,ABW03429 Hs.482497 IPO2|KPNB2|MIP|MIP1|TRN protein-coding 1321214 TNPO2 transportin 2 (importin 3, karyopherin beta 2b) 1580863 9298975,17353931,16901787,14981248,14702039,12477932,12384575,12896982,15037768,11729309 30000 AB210011,AF007748,AF019039,AK022217,AK056183,AL832114,BC018314,BC063679,BC072420,CR614361,CR615070,CR626762,NM_013433,AC018761,CH471106 EAW84301,BAE06093,AAB71349,AAB83973,BAB13989,AAH18314,AAH72420,O14787,Q05D48,Q4LE60,Q6IN77,Q9HA67,EAW84300,NP_038461,EAW84299 Hs.416049 FLJ12155|IPO3|KPNB2B|TRN2 protein-coding 1318997 TNPO3 transportin 3 TNPO3 is a nuclear import receptor for serine/arginine-rich (SR) proteins, which are essential precursor-mRNA splicing factors (Kataoka et al., 1999 [PubMed 10366588]).[supplied by OMIM] 1580863 17353931,10366588,16730941,15489334,15231748,14702039,12690205,12477932,12134081,11517331,10713112,9373149,8125298 23534 NM_012470,AC018639,AC025594,CH236950,CH471070,AF145029,AJ133769,AK001263,AK022910,AK225999,BC009221,BC009923,BC068530,CB992781 NP_036602,EAL24106,EAW83708,EAW83709,EAW83710,AAD38537,CAB42643,AAH09221,Q9Y5L0,AAI56518 Hs.193613 IPO12|MTR10A|TRN-SR|TRN-SR2|TRNSR protein-coding 732585 TNR tenascin R (restrictin, janusin) Tenascin-R (TNR) is an extracellular matix protein expressed primarily in the central nervous system. It is a member of the tenascin (TN) gene family, which includes at least 3 genes in mammals: TNC (or hexabrachion; MIM 187380), TNX (TNXB; MIM 600985), and TNR (Erickson, 1993 [PubMed 7694605]). The genes are expressed in distinct tissues at different times during embryonic development and are present in adult tissues.[supplied by OMIM] 8940128,18415014,17537973,16710414,16344560,14681222,12477932,11752456,11038354,10406848,9722619,9371410,9335257,9294172,9081628,8626505,7694605 7143 NM_003285,AL021919,AL023285,AL136530,CH471067,Z94055,Z94057,AV650210,BC129830,DA804585,DB068074,X98085,Y13359,Z67996 NP_003276,EAW90994,EAW90995,CAI19943,CAI19944,AAI29831,CAA66709,CAA91947,Q92752 Hs.659864 GDB:637250 MGC149328|TN-R tenascin r protein-coding 1344584 TNR1 Turner syndrome 1 7677140 7144 GDB:265276 1351438 TNRC17 trinucleotide repeat containing 17 9225980 27321 U80752 GDB:10795961 CAGL234 protein-coding 2291816 TNRC18 trinucleotide repeat containing 18 17370265,15146197,12853948,12477932,11347906,11181995,9847074,9225980 84629 NM_001013722,AC092171,AC093620,CH471144,AB058759,AI567212,AI738451,AK027341,AY129022,BC029940,BC036932,BC068099,BC131808,BX396597,CN295035,CR993399,DN990416,NM_001080495,DR159642,U80753 NP_001073964,NP_001013744,EAW87331,EAW87332,EAW87333,EAW87334,EAW87335,BAB47485,BAB55047,AAM98765,AAI31809,Q6YL37,AAB91447,O15417 Hs.556754 GDB:10795963 CAGL79|KIAA1856|TNRC18A protein-coding 1353307 TNRC21 trinucleotide repeat containing 21 9225980 27318 U80756 AAB91448,O15418 GDB:10795965 CAGL114 protein-coding 1319873 TNRC4 trinucleotide repeat containing 4 Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. While several transcript variants may exist for this gene, the full-length nature of only one has been biologically validated to date. 1580863 11158314,9225980,14702039,12477932,10893231 11189 NM_007185,AL589765,AY165053,CH471121,AB209264,AF284423,AF329264,AK123206,AY165003,BC004145,U80746,U80759,BC041088,BC052491,BC068008,BC104758,CR595146 NP_009116,CAI17166,CAI17167,CAI17168,AAN73886,EAW53419,EAW53420,EAW53421,EAW53422,BAD92501,AAG14457,AAK07474,AAN73884,AAB91444,AAB91450,O15419,Q59G45,Q5SZQ6,Q5SZQ7,Q5SZQ8,Q8IZ97,Q9BTF3,AAH04145,AAH52491,AAH68008,AAI04759 Hs.26047,Hs.623956 GDB:9957068 BRUNOL1|CAGH4|CELF3|ERDA4|MGC57297 protein-coding 1607049 TNRC6A trinucleotide repeat containing 6A This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. 18345015,16906129,16880270,16815998,16418578,16284623,16284622,16177138,15908945,15494374,15489334,14702039,14598044,13130130,12831532,12477932,11950943,10819331,10737800,9225980,8889548,8781769 27327 AB040893,AJ492221,AK001773,AK025277,AK025696,AK094542,AL713750,AL833757,AY035864,BC024324,BC068209,BE158958,BU743266,U23860,U80739,NM_014494,AC002565,AC008731,CH471145 EAW55783,EAW55784,EAW55785,EAW55786,EAW55787,BAA95984,CAD37348,BAA91899,CAD28525,CAH56236,AAK62026,AAH24324,AAH68209,AAB91438,Q8NDV7,NP_055309,EAW55782 Hs.655057 CAGH26|DKFZp666E117|FLJ22043|GW1|GW182|KIAA1460|MGC75384|TNRC6 protein-coding 1350349 TNRC6B trinucleotide repeat containing 6B 1580863 10470851,10409428,8889548,16880270,16289642,15489334,12477932,12168954,10591208 23112 NM_001024843,NM_015088,AL022238,AL031589,AL033547,CH471095,Z93783,AB029016,AL831862,BC028626,BC046218,BE501815,BG942870,BX537577,BX647630,CA312515 NP_001020014,NP_055903,EAW60367,EAW60368,EAW60369,EAW60370,EAW60371,EAW60372,EAW60373,BAA83045,AAH28626,Q9UPQ9 Hs.372082 KIAA1093 protein-coding 1349772 TNRC6C trinucleotide repeat containing 6C 1580863 16880270,16625196,15489334,14702039,12477932,12168954,10997877 57690 NM_018996,AC021593,CH471099,AB046802,AK000022,AK054995,AK056421,AK092762,AK098609,AL834429,BC045631 NP_061869,EAW89480,EAW89481,EAW89482,EAW89483,EAW89484,EAW89485,BAB13408,BAA90890,BAB71179,CAD39090,AAH45631,Q9HCJ0,Q9NXW7,AAI56367,AAI57116 Hs.584945 FLJ20015|KIAA1582 protein-coding 1349518 TNRC8 trinucleotide repeat containing 8 14702039,12477932,9225980 27325 AK025872,AK056476,BC029936,U80740 Hs.592375 GDB:10795952 CAGH39 miscrna 68636 TNS1 tensin 1 The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. A second transcript from this gene has been described, but its full length nature has not been determined. 1580863 17435217,17081983,16953426,14991332,14702039,12477932,11493697,11023826,10860821,10737800,8563175,8810278 7145 NM_022648,AC009469,CH471063,AB209238,AF116610,AF172820,AF173897,AF176917,AK001785,AL117537,AL706926,BC014042,BC033065,BC051304,BC063142,BC071905,BC116187,BC116188,BC126910,BC140942,BE142921 NP_072174,AAX88952,EAW70582,EAW70583,EAW70584,EAW70585,EAW70586,EAW70587,BAD92475,AAF71035,AAQ13614,AAQ13644,AAQ13661,BAA91910,CAB55983,AAH14042,AAH51304,AAH71905,AAI16188,AAI16189,AAI26911,AAI40943,Q0VG54,Q0VG55,Q4ZG71,Q59G71,Q6IPI5,Q6PJM3,Q86VB0,Q9HBL0,Q9NV48,Q9P1L6,Q9UFN8 Hs.471381 GDB:523952 DKFZp586K0617|MGC88584|MST091|MST122|MST127|MSTP091|MSTP122|MSTP127|MXRA6|TNS tensin protein-coding 1323398 TNS3 tensin 3 17643115,16461921,15140944,14702039,12477932,11559528,9847074 64759 NM_022748,AC073341,AC092000,CH236958,CH471128,AB062750,AB208995,AF378756,AF417489,AK001539,AK002151,AK023794,AK092864,AL833845,BC071791,BC137133,BC137134,BX648770,CR612439,CR626304,CR749644 NP_073585,AAQ96841,EAW61011,EAW61012,EAW61013,EAW61014,EAW61015,BAB60681,BAD92232,AAL11993,AAN32667,BAB14682,BAC03993,CAD38705,AAH71791,AAI37134,AAI37135,CAH18438,Q59GW4,Q68CZ2,Q8NDL6,Q9H8D5 Hs.520814 DKFZp686K12123|DKFZp686M1045|FLJ13732|FLJ35545|H_NH049I23.2|MGC88434|TEM6|TENS1 tensin-like sh2 domain containing 1 protein-coding 1605916 TNS4 tensin 4 17765673,17643115,17190795,15806167,15498874,15489334,15001839,14702039,12711115,12477932,12154022,10737800,8889548,15778465 84951 NM_032865,AC018629,CH471152,AF370421,AF417488,AK027856,AW378527,AW937802,BC013373,BC018706,BM710196 NP_116254,EAW60666,EAW60667,AAQ15257,AAN32666,BAB55413,AAH13373,AAH18706,Q6PJP3,Q8IZW8 Hs.438292 CTEN|FLJ14950|PP14434 protein-coding 1343878 TNXA tenascin XA pseudogene 1298605 2475872,1988494,1373808,15339882,12121677,10343159,8530023,8132574 1298605 7146 NR_001284,NG_004658,AL645922,L26263 GDB:568487 D6S103E|HXBL|TNX|XA pseudo 1345578 TNXB tenascin XB This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. 1599494,1580863 7686164,15102077,16278880,18091320,18058064,17453911,17263730,17202312,17192952,17033827,16567571,16335952,15733269,15455729,15342556,15339882,14729256,14656967,12746407,12477932,12376099,12121677,11642233,11122379,10737800,10343159,10207042,10072631,9288108,9278449,8923003,8530023,2475872,1373808 1599494 7148 NM_032470,NG_000013,NG_005163,NG_004658,AF019413,AF077974,AL049547,AL645922,AL662828,AL662849,AL662884,AL772248,AL929593,CH471081,U52697,U52698,U89337,X71937,Y13783,AB209012,AK310080,AL044866,BC033740,NM_019105,BC071883,BC125114,BC125115,BC130037,BI010479,BP233293,BP420628,BQ446909,M25813,U24488,U52696,U52699,U52700,U52701,X71923,Y13782,Y17865,Y17866,Y17867,Y17868 NP_061978,NP_115859,AAB67981,CAB89296,CAB89297,CAB89298,CAB89299,CAB89300,CAI17414,CAI17471,CAI18332,CAM25640,CAI18078,CAI41781,EAX03572,EAX03573,EAX03574,EAX03575,EAX03576,EAX03577,EAX03578,EAX03579,AAB47488,CAA50740,CAA74110,BAD92249,AAH33740,AAH71883,AAI25115,AAI25116,AAI30038,AAA35884,AAB41287,AAC50889,AAC50880,AAC50882,AAC50884,CAA50739,CAA74109,CAA76899,CAA76900,CAA76901,CAA76902,O95680,O95681,O95682,P22105,Q08AM0,Q08AM1,Q59GU7,Q5JNX3,Q5SQD3,Q5ST46,Q5ST74,Q6IPK3,Q8N4R1,Q9NPK6,Q9NPK7,Q9NPK8,Q9NPK9,Q9UC10,Q9UC11,Q9UC12,Q9UC13,Q9UE34,Q9Y464 Hs.42853,Hs.485104,Hs.708061 GDB:594908 HXBL|TENX|TNX|TNXB1|TNXB2|TNXBS|XB|XBS protein-coding 1352967 TOB1 transducer of ERBB2, 1 This gene encodes a member of the tob/btg1 family of anti-proliferative proteins that have the potential to regulate cell growth. When exogenously expressed, this protein supresses cell growth in tissue culture. The protein undergoes phophorylation by a serine/threonine kinase, 90 kDa ribosomal S6 kinase. Interactions of this protein with the v-erb-b2 erythroblastic leukemia viral oncogene homolog 2 gene product p185 interferes with growth suppression. This protein inhibits T cell proliferation and transcription of cytokines and cyclins. The protein interacts with both mothers against decapentaplegic Drosophila homolog 2 and 4 to enhance their DNA binding activity. This interaction inhibits interleukin 2 transcription in T cells. 1580863 8632892,18377426,18084094,17785442,17164348,16997058,16951159,15676026,15489334,15235587,15051490,14643028,12782279,12477932,12151396,12135500,12050114,11904957,11694881,11429045,11327693,11260258,11163184,10602502,9210596,18056425,16189514 10140 NM_005749,AC091062,CH471109,AY524047,BC015064,BC031406,BC070493,BC098415,BT019380,BT019381,CR536487,CR541686,D38305 NP_005740,EAW94577,EAW94578,AAS94256,AAH31406,AAH70493,AAH98415,AAV38187,AAV38188,CAG38726,CAG46487,BAA07423,P50616,Q2TU63,ABM81763,ABM84918,ABM84919 Hs.531550,Hs.653129,Hs.709952 GDB:6093392 APRO6|MGC104792|MGC34446|PIG49|TOB|TROB|TROB1 protein-coding 1342508 TOB2 transducer of ERBB2, 2 TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM] 1580863 10602502,15489334,15461802,12477932,12135500,11429045,11260258,11258795,10591208 10766 AL008582,AB035207,AB051450,AI362988,BC028919,BC038957,BM453650,CR456594,CR541684,CR601882,D64109,NM_016272 NP_057356,CAB62938,BAA87042,BAB33333,AAH28919,AAH38957,CAG30480,CAG46485,BAA10971,Q14106,Q6FHR7,Q6PIT9,CAK54625,CAK54924 Hs.474978 GDB:9958254 TOB4|TOBL|TROB2 protein-coding 1347878 TOB2P transducer of ERBB2, 2 pseudogene 387049 1352098 TOC tylosis with oesophageal cancer 7534553 7149 GDB:451978 1319240 TOE1 target of EGR1, member 1 (nuclear) 17081983,16710414,16344560,15489334,14702039,12562764,12477932,7829101,15146077 114034 NM_025077,AL359540,CH471059,AK024011,AK093320,AY169960,BC009364,BI495405,CR457320,CR591540,CR594683,CR598664,CR601438,CR608938,CR612827,CR616202,CR623437,DA887065 NP_079353,CAI21722,EAX06990,BAB14774,AAN75441,AAH09364,CAG33601,Q96GM8 Hs.525091 GDB:11508810 FLJ13949 protein-coding 1312257 TOLLIP toll interacting protein 1580863 11441107,10854325,1085432,17362526,17113392,16713569,16412388,16381901,16189514,16107720,15489336,15489334,15231747,15047686,14702039,14563850,12477932,11751856,11230166,11076863,9426216 54472 NM_019009,AC136297,CH471158,AB209541,AJ242972,AK022871,AK090850,AK096693,AK127123,AL136835,AY730683,BC004420,BC012057,BC018272,BX648136,CR533477 NP_061882,EAX02433,EAX02434,EAX02435,BAD92778,CAB58118,BAB14283,BAC04844,CAB66769,AAX22229,AAH04420,AAH12057,AAH18272,CAG38508,Q59FB9,Q6FIE9,Q8N8J5,Q9H0E2,CAL38251,ABM82728,ABM85912 Hs.368527 FLJ33531|IL-1RAcPIP protein-coding 1317553 TOM1 target of myb1 (chicken) The specific function of this gene has not yet been determined, yet it may involve the translocation of growth factor receptor complexes to the lysosome for degradation. This gene is localized to 22q13.1, with HMOX1 and MCM5 distally and HMG2L1 proximally positioned. 1580863 14613930,10329004,17081983,16903783,15657082,15461802,15047686,14702039,14563850,12975309,12477932,10985773,10591208 10043 CH471095,CS185568,Z82244,AF040251,AJ006973,NM_005488,AL008635,AK026576,AK090723,AK091958,AK097066,AK097926,AY358980,BC005144,BC040006,BC046151,CR456595,CR593147,CR595971,CR596343,CR603578,CR605275,CR608920,CR611082,CR617054,CR617182,CR621107,CR626351 EAW60053,EAW60054,EAW60055,EAW60056,EAW60057,EAW60058,CAJ42749,CAI17951,AAB97007,CAA07362,NP_005479,CAI21633,AAQ89339,AAH46151,CAG30481,O43601,O60784,Q6UW50,Q86X74,CAK54626,CAK54925 Hs.474705 GDB:9954924 FLJ33404 protein-coding 1351961 TOM1L1 target of myb1 (chicken)-like 1 1580863 10329004,16169070,15611048,15579470,15047686,14702039,12477932,12345679,11711534,9373149,8125298 10040 AK001893,AK223125,AK225351,BC029396,CR593166,CR610033,NM_005486,AC007485,AC090824,CH471109,AJ010071 CAA08993,BAD96845,AAH29396,O75674,Q53G06,Q8N749,NP_005477,EAW94551,EAW94552,EAW94553 Hs.153504 GDB:9954918 SRCASM target of myb1-like 1 (chicken) protein-coding 1315512 TOM1L2 target of myb1-like 2 (chicken) 1580863 16479011,16412388,16344560,15951569,15489334,15231748,14702039,12975309,12477932,11997338,10036180,9110174,8889548,8619474 146691 AK124331,AL133641,AY358769,BC051650,BM976586,DA235267,DA335727,NM_001033551,NM_001082968,AC087163,AC122129,CH471196,AF038192,AF467441,AK055959,AK057308 BAC85834,AAQ89129,AAH51650,NP_001028723,NP_001076437,EAW55684,EAW55685,EAW55686,EAW55687,AAL78338,BAB71421,Q6UWJ0,Q6ZVM7 Hs.462379 GDB:9958228 FLJ32746 protein-coding 735635 TOMM20 translocase of outer mitochondrial membrane 20 homolog (yeast) 1580863 7584026,14557246,7498524,17081983,16710414,16169070,15733919,15644312,15489334,14699115,12477932,11913975,11027586,10982837,10980201,10548729,9756929,9748310,9211931,9119086,7589431,7584028,16189514 9804 AAB35420 NM_014765,AF126962,AL732292,CH471098,CQ871290,AK289810,BC000882,BC009886,BC066335,BC071994,BC100286,BC107851,CR456718,CR598588,CR600837,CR601274,CR614388,CR620459,D13641 NP_055580,AAF13354,CAI21937,EAW70003,EAW70004,CAH56826,BAF82499,AAH00882,AAH66335,AAH71994,AAI00287,AAI07852,CAG32999,BAA02804,AAB35420,Q15388,ABM82028,ABW03358 Hs.533192 KIAA0016|MAS20|MGC117367|MOM19|TOM20 protein-coding 1342792 TOMM22 translocase of outer mitochondrial membrane 22 homolog (yeast) The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. 1580863 14557246,10982837,17096026,17081983,15644312,15489334,15461802,14702039,14699115,12477932,12198123,10980201,10900208,9373149,8125298,16189514 56993 AL021707,CH471095,AA522979,AB040119,AB041906,AF163256,AK024731,AK223021,BC009363,BQ961547,CB142641,CR456475,CR594101,CR599084,CR611731,CR616741,CR617759,NM_020243 NP_064628,EAW60253,EAW60257,BAB03306,BAB16408,AAQ13585,BAB14979,BAD96741,AAH09363,CAG30361,Q53GB0,Q5JZD3,Q9NS69,ABM87288,CAK54456,CAK54755,ABM83971 Hs.595072 GDB:11508050 1C9-2|MST065|MSTP065|TOM22 protein-coding 1319142 TOMM34 translocase of outer mitochondrial membrane 34 The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. 1580863 9660753,9324309,17081983,16820880,15489334,12477932,11913976,11913975,11780052,11549316,10101285,9373149,8125298,16189514 10953 NM_006809,AL109839,CH471077,AB085681,AK000594,AK129538,AK222952,BC001763,BC006573,BC007423,BC014907,BI560064,BT020008,BT020009,CR456765,CR590854,CR591871,CR601541,CR610532,CR611422,CR613555,CR615090,CR615170,CR617290,CR620173,CR624083,U58970 NP_006800,CAB89422,EAW75885,EAW75886,BAF32949,BAC85180,BAD96672,AAH01763,AAH07423,AAH14907,AAV38811,AAV38812,CAG33046,AAC64484,Q15785,Q6ZPD0,ABM82077,ABW03362 Hs.517066 GDB:9958640 HTOM34P|TOM34|URCC3 protein-coding 1343121 TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast) TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM] 1303948,1580863 18430993,18095154,17672918,16495475,15644312,15489334,12477932,12198123,11745481,10980201,10520737 1303948 10452 NG_007084,AC011481,AF043253,AF050154,CH471126,AF043250,AF316398,AF316399,AF316401,NM_006114,CR599210,CR599342,CR599747,CR600311,CR601010,CR602236,CR604933,CR609207,CR614435,CR616015,CR616352,CR616832,CR618807,CR621607,CR622462,CR623716,CR624986,AF316402,BC001779,BC006413,BC012134,BC017224,BC047528,CR592041,CR593526,CR593671,CR593837,CR593878,CR594218,CR596919,CR597932,CR597944,CR598474 NP_006105,AAC82343,AAD02504,EAW57300,EAW57301,EAW57302,EAW57303,EAW57304,EAW57305,AAC82342,AAL46624,AAL46625,O96008,ABM83864,ABM87186,AAL46627,AAH01779,AAH06413,AAH12134,AAH17224,AAH47528,AAL46626 Hs.655909 GDB:9964104 C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40 protein-coding 1604579 TOMM40L translocase of outer mitochondrial membrane 40 homolog (yeast)-like 16381901,16344560,15489336,15489334,14702039,12477932,11230166,11076863,11256614,16710414 84134 NM_032174,AL590714,CH471121,AK022832,AK027704,BC014946,BX537951,DA160426 NP_115550,CAH72152,EAW52611,EAW52612,EAW52613,EAW52614,EAW52615,EAW52616,EAW52617,BAB14265,BAB55309,AAH14946,CAD97918,Q0JU44,Q969M1,Q9H9G4,CAL37516,CAL37967 Hs.321653 FLJ12770|RP11-297K8.10|TOMM40B protein-coding 1317904 TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast) TOM7 is a small regulatory component of the translocase of the outer mitochondrial membrane (TOM), a general import pore complex that translocates preproteins into mitochondria.[supplied by OMIM] 1580863 15489334,12853948,12477932,12198123,10931946,10647823 54543 NM_019059,AC005682,CH236948,CH471073,AF086336,AF150733,AJ011007,AK026520,BC001732,BC071973,CR456960,CR599481 NP_061932,AAS01992,EAW93760,EAW93761,EAW93762,EAW93763,AAF67473,CAB38060,AAH01732,AAH71973,CAG33241,Q75MR5,Q9P0U1 Hs.112318 TOM7 protein-coding 1343038 TOMM70A translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) The translocase of outer mitochondrial membrane (TOM) complex is a multisubunit complex involved in the recognition, unfolding, and translocation of preproteins into the mitochondria. See TIM17A (MIM 605057).[supplied by OMIM] 1580863 12526792,16968702,16822835,16303743,15644312,15489334,12200962,10582581,12477932,9872452 9868 NM_014820,AC093003,CH471052,AB018262,AK074951,AK075080,AK075102,BC003633,BC052994,BC065555,CR623762 NP_055635,EAW79822,EAW79823,BAA34439,AAH03633,AAH52994,AAH65555,O94826,Q6P0M2,ABM87423 Hs.227253 GDB:9958332 FLJ90470 translocase of outer mitochondrial membrane 70 homolog a (yeast) protein-coding 733198 TOP1 topoisomerase (DNA) I This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. 1580863 12723479,12711735,12708316,12673200,12634843,12618186,12549820,12519782,12477932,12439742,12426403,12270705,12270136,12237772,12209444,12209008,12149243,12119295,12097280,12051740,12004060,11844605,11832494,11818025,11809893,11790298,11780052,11749700,11709553,11254741,10967121,10841763,10827183,10792988,10759568,10556215,10468612,9933635,9756848,9611241,9512561,9488652,9488644,9396813,9373149,9209315,9209286,8811173,8567649,8125298,7882333,7539924,2998765,2848244,2833744,2558068,2544263,2479024,2461859,2176592,2174357,1851751,1849260,1339303,1332703,11001406,16799632,16537084,16428803,16415033,16314322,15944452,15923621,15850773,15848144,17355975,9049244,10352183,17481653,17172417,16127745,18215123,18089815,18054778,18003733,17976381,17827209,17765665,17706468,17656417,17490723,17439970,17434318,17101150,16930551,16819839,15830206,15680922,15640154,15635413,15351405,15247263,15196694,15178684,15147201,15100157,15014084,15010314,14961077,14741206,14729676,14706652,14688260,14654701,14594810,13679149,12904303,12829794 7150 NM_003286,AL022394,AL035652,CH471077,M60688,M60706,AK225095,AK292943,BC000943,BC004475,BC039009,BC067349,CR590405,CR599447,CR604483,J03250,M27913,U07804,U07806,X16479 NP_003277,CAI42886,EAW75994,EAW75995,EAW75996,EAW75997,AAA61206,BAF85632,AAH00943,AAH04475,AAH67349,AAA61207,AAA61208,AAB60379,AAB60380,CAA34500,P11387,Q6NWZ5,Q6PK95,Q9BVT2 Hs.472737,Hs.592136 GDB:120444 TOPI dna topoisomerase i protein-coding 1351494 TOP1MT topoisomerase (DNA) I, mitochondrial This gene encodes a mitochondrial DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of DNA which allows the strands to pass through one another and relieves the stress introduced by a circular mitochondrial genome during replication and transcription. 1323841,737633,1580863 15096574,12477932,11526219 1323841,737633 116447 NM_052963,AC087793,AF349018,AF349019,AF349020,AF349021,AF349022,AF349023,AF349024,AF349025,AF349026,AF349027,AF349028,AF349029,AF349030,AF349031,CH471162,AF349017,BC027453,BC044646,BC052285,BC071914,CR590524,CR594056,CR602435,CR616521,CR622914,CR623300 NP_443195,AAL10791,EAW82259,EAW82260,EAW82261,EAW82262,EAW82263,EAW82264,EAW82265,EAW82266,AAL05624,AAH27453,AAH44646,AAH52285,AAH71914,Q86ST4,Q86V82,Q8TBP3,Q969P6 Hs.528574 2900052H09Rik protein-coding 1345124 TOP1P1 topoisomerase (DNA) I pseudogene 1 2170234 7151 NR_002719,AL031274,M55632 Hs.661092 GDB:125345 pseudo 1353074 TOP1P2 topoisomerase (DNA) I pseudogene 2 2170234 7152 NR_001283,AP000359,M55630 Hs.381281 GDB:125346 pseudo 1352729 TOP2A topoisomerase (DNA) II alpha 170kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromsome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. 1580863 14596941,14566826,12859955,12832072,12821127,12711669,12691917,12646941,12646164,12569090,12480934,12477932,12429910,12429800,12429798,12356743,12237772,12078518,12014628,12001123,11976828,11958416,11940573,11940566,11927602,11862483,11790298,11574892,11444988,11111056,11101529,10942766,10862613,10646863,10465010,10393912,10095062,9804834,9795238,8939955,8710863,8393377,8387155,8166723,7980433,7961967,7635160,7585537,7499337,6267071,2845399,2836804,2556712,1652758,1651812,1373318,1309226,11799067,16611985,12079377,9049244,16914642,11062478,11136718,10666337,15965487,10473615,15491148,15504738,10959840,15456904,16712776,10788521,18402387,18347177,18332872,18162055,18062778,18045852,17998154,17983804,17956945,17922046,17717428,17636313,17607373,17526531,17512033,17453369,17410335,17388661,17361331,17289897,17212588,17182034,17081983,17072627,16990717,16964243,16864174,16682295,16565220,16533774,16533424,16507781,16271071,16234514,16213649,16188892,16139951,16114891,16091284,16053917,15899781,15809708,15635413,15602006,15375522,15302935,15201855,15182198,15126503,15044480,15037624,14996935,14991576,14989736,14978217,14759373,14702039,14632727,16236267 7153 NM_001067,AC080112,AF064590,AF069522,AF071738,AF071739,AF071740,AF071741,AF071742,AF071743,AF071744,AF071745,AF071746,AF071747,AJ011741,CH471152,AF285157,AF285158,AF285159,AK024080,BC013429,BC140791,CR625760,J04088,L47276,L47277 NP_001058,AAC16736,AAC23518,AAC77388,CAA09762,EAW60661,EAW60662,EAW60663,AAG13403,AAG13404,AAG13405,AAI40792,AAA61209,P11388 Hs.156346 GDB:118884 TOP2|TP2A protein-coding 1350637 TOP2B topoisomerase (DNA) II beta 180kDa This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. 1580863 18212063,17526531,17361331,17209120,17182034,17081983,16969495,16932348,16794079,16712776,16565220,16502015,16091284,15680922,15635413,15302935,15044480,14996935,14723357,14596941,12837248,12821127,12629207,12477932,12393188,12197834,12105221,11927602,11790298,11710515,9049244,11062478,11136718,10666337,10473615,16611985,11395412,10879730,10862613,10095062,9795238,9743583,9461304,9426241,9155018,8710863,8626450,8396237,8383537,2556712,2163884,1333583,1309226 7155 NM_001068,AC093416,AF087143,AF087144,AF087145,AF087146,AF087147,AF087148,AF087149,AF087150,AF087151,AF087152,AF087153,AF087154,AF087155,AF087156,AF087157,AF087158,AF087159,AF087160,AJ011721,CH471055,U65315,X71911,AB208879,AY309240,BC021863,BC054482,CR600074,CR602047,CR606570,CR621848,M27504,U54831,X53662,X68060,Z15111,Z15115,U96765 NP_001059,AAC77432,CAA09753,EAW64357,EAW64358,EAW64359,AAB95437,AAB54121,CAA50726,BAD92116,AAR16193,AAH21863,AAA61210,AAB01982,CAA37706,CAA48197,CAA78815,CAA78821,Q02880,Q59H80,Q6LBI8,Q6LC06,Q6W6M6,Q71UH4,Q8WTY5,AAI56331,AAI57119 Hs.475733 GDB:131575 TOPIIB|top2beta protein-coding 1319604 TOP3A topoisomerase (DNA) III alpha This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. 1580863 10728666,8622991,17728255,16595695,16546998,15489334,12477932,12433984,12209014,11997338,11406610,10945498,10739669,10734115,10710432,10352172,9748294,9450867,9114025,12973351,15143166,11470874,10825162,15775963 7156 NM_004618,AC127537,AF026813,CH471196,AF086042,AK126869,AK290513,AK292926,BC051748,BM462184,CR593799,U43431 NP_004609,EAW55646,EAW55647,EAW55648,EAW55649,BAF83202,BAF85615,AAH51748,AAB03694,AAB03695,Q13472 Hs.592115 GDB:1323345 TOP3 protein-coding 1319825 TOP3B topoisomerase (DNA) III beta This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Alternative splicing of the C-terminus of this gene results in three transcript variants which have distinct tissue specificity; however, not all variants have been fully described. 1580863 15231747,9786843,16189514,15489334,15461802,15358519,14702039,12477932,11549288,10710432,9927731,9786842,9110174,9074928,8619474 8940 NM_003935,CH471095,D87012,AF017146,AF053082,AF070585,AF125216,AK096695,AK290997,AL833505,BC002432,CR456596,CR597544,CR625879 NP_003926,EAW59487,EAW59488,EAW59489,EAW59490,EAW59491,BAA20009,AAD01614,AAD15791,AAD29670,BAF83686,AAH02432,CAG30482,O95985,CAK54627,CAK54926 Hs.436401 GDB:9957921 FLJ39376 protein-coding 1345548 TOP3B2 topoisomerase (DNA) III beta, 2 This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. 10591208,9074928 23751 NG_000002,D86996 GDB:10795347 pseudo 1321299 TOPBP1 topoisomerase (DNA) II binding protein 1 This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. 1580863 9461304,12773567,18006695,17913746,17887956,17765870,17448016,17293600,17287259,16984230,16964243,16930991,16880517,16831524,16530042,16314514,15961388,15635413,15195143,15188402,15138768,15075294,14576432,12941802,12810625,12697828,12477932,12421765,12408820,11934899,11756551,11714696,11395493,10498869,9039502,14576433 11073 NM_007027,AC016255,AC083905,CH471052,AB019397,AK026229,BC017552,BC032633,BC126209,BC151237,D87448,Y18557 NP_008958,EAW79173,EAW79174,EAW79175,BAA34202,AAH32633,AAI26210,AAI51238,BAA13389,A0AV47,Q05BV8,Q92547 Hs.53454 TOP2BP1 protein-coding 1313199 TOPORS topoisomerase I binding, arginine/serine-rich 1580863 11278651,10352183,10415337,14516784,15735665,18077445,17976381,17924349,17803295,17081983,16679534,16455055,16189705,16122737,15699047,15489334,15364129,15302935,15247280,15231748,15164053,15107820,12878157,12477932,12083797,11842245,11056671 10210 NM_005802,AF241192,AL353671,CH471071,AB045732,AB045733,AF098300,AI934577,AK098413,AU280552,BC060884,BQ007035,U82939 NP_005793,AAK12843,CAH71253,CAH71254,CAH71256,EAW58546,BAB03714,BAB03715,AAD23379,BAC05300,AAH60884,AAC98530,Q8N7I0,Q9NS56 Hs.589962,Hs.664395 LUN|P53BP3|RP31|TP53BPL protein-coding 1345813 TOR1A torsin family 1, member A (torsin A) The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. 10871631,10644435,10640617,10541594,10435508,9750906,9585364,17200151,17130424,17066475,17037984,17027035,16934985,16911351,16631205,16537570,16366514,16303743,16275837,16198613,15939081,15781971,15767459,15679701,15555920,15505207,15489334,15465399,15455404,15359520,15326234,15293281,15177405,15164053,15147511,15111678,15099679,15028751,14872019,14743361,14711988,14702039,14690443,14615676,14581671,12975293,12965225,12838525,12780349,12760408,12609485,12481989,12477932,12402271,12391355,12098639,12007841,11973627,11940688,11921134,11757956,11584049,11523564,11438481,11405807,11337467,9288096,10814722,18212280,17601741,17550429,17539945,17503336,17428918,17353931,17290457 1861 NM_000113,AL158207,CH471090,AF007871,AK056062,AK075343,AK130769,AU098588,BC000674,BC014484,BT006931,BU790507,CR602179,CR612940,CR622117,CR623187 NP_000104,CAC88168,EAW87907,EAW87908,AAC51732,AAH00674,AAH14484,AAP35577,O14656,ABM83583,ABM86823 Hs.534312 DQ2|DYT1 protein-coding 1607052 TOR1AIP1 torsin A interacting protein 1 17081983,16710414,15767459,15489334,14702039,12477932,12061773,9305626,8324822,16189514 26092 NM_015602,AL353708,CH471067,AK001780,AK021613,AK023204,AK291495,AL050126,AL598529,AW298193,BC023247,BQ435161,BX369105,CR591258,CR595831 NP_056417,EAW91067,EAW91068,BAA91906,BAB13855,BAB14461,BAF84184,CAB43282,AAH23247,Q5JTV5,Q5JTV8,Q9BSK9 Hs.496459 DKFZP586G011|FLJ13142|LAP1B|MGC3413|RP11-533E19.1 protein-coding 1604221 TOR1AIP2 torsin A interacting protein 2 15767459,16710414,15489334,14702039,12477932 163590 NM_145034,AL359853,CH471067,AF464140,AK057623,BC094724,BC101532,BC112225 NP_659471,CAH70382,EAW91058,EAW91059,EAW91060,EAW91061,EAW91062,EAW91063,AAM50514,AAI01533,AAI12226,Q8NFQ8 Hs.693681 LULL1|MGC126581|MGC138430|RP11-12M5.5 protein-coding 1318195 TOR1B torsin family 1, member B (torsin B) 1580863 17130424,16938275,15489334,15164053,15147511,12477932,9288096,10644435 27348 NM_014506,AL158207,CH471090,AF007872,AF317129,BC006480,BC015578 NP_055321,CAC88165,CAC88166,EAW87906,AAC51733,AAG50271,AAH06480,AAH15578,O14657,Q96LG7,Q9BR69,ABM84130,ABM84131,ABM84622,ABM87531,ABM87532,ABM87866 Hs.654672 GDB:10013760 DQ1|MGC4386 protein-coding 1345727 TOR2A torsin family 2, member A 16697365,16344560,16303743,15489334,15164053,14702039,12975309,12910263,12477932,10644435 27433 NM_130459,NM_001085347,AL162426,CH471090,AK027677,AK055034,AK075520,AK092388,AY358180,BC022985,BC062340,BC080527,BC100907,BC100908,BC100909,BC100910,CR623700,DA430836 NP_569726,NP_001078816,EAW87690,EAW87691,EAW87692,EAW87693,EAW87694,BAB55288,BAC11667,BAC03876,AAQ88547,AAH62340,AAH80527,AAI00908,AAI00909,AAI00910,AAI00911,Q3ZCN9,Q5JU69,Q8N2E6,AAI56123,AAI56919,AAI60144 Hs.444106 GDB:10013762 FLJ14771|MGC99558|TORP1 protein-coding 1320812 TOR3A torsin family 3, member A 1580863 16710414,16344560,15489334,14702039,12477932,11863361,10644435 64222 AJ318044,AL139132,CH471067,AJ299403,AJ299441,AK025998,AK130132,BC001085,BC007571,BC011746,BC018292,BC088368,CR457354,NM_022371,CR612199,CR614363,DA942161 NP_071766,CAC88129,CAC88130,CAH70927,CAH70928,CAH70929,CAH70930,EAW91037,EAW91038,EAW91039,CAC13973,CAC14461,BAB15312,AAH01085,AAH07571,AAH11746,AAH18292,AAH88368,CAG33635,Q9H497 Hs.584957 GDB:10013763 ADIR|ADIR2|FLJ22345|MGC111104 protein-coding 1605410 TOX thymocyte selection-associated high mobility group box Some high-mobility group (HMG) box proteins (e.g., LEF1; MIM 153245) contain a single HMG box motif and bind DNA in a sequence-specific manner, while other members of this family (e.g., HMG1; MIM 163905) have multiple HMG boxes and bind DNA in a sequence-independent but structure-dependent manner. All HMG box proteins are able to induce a sharp bend in DNA. TOX contains a single HMG box motif.[supplied by OMIM] 17918249,17529974,15489334,15078895,14702039,12697058,12477932,12168954,11850626,9872452 9760 NM_014729,AC090152,AC091195,AC105150,CH471068,AB018351,AK000971,BC016665,BX647462,CA439630,CR611103 NP_055544,EAW86818,EAW86819,BAA34528,AAH16665,O94900,ABM82591,ABM85778 Hs.491805,Hs.634856 KIAA0808|TOX1 protein-coding 1350992 TOX2 TOX high mobility group box family member 2 16344560,15489334,14764631,14702039,12477932,11780052 84969 NM_001098797,NM_032883,NM_001098796,NM_001098798,AL034419,AL035089,AL121587,AL353797,CH471077,AK055135,AK289906,BC007636,BM545579,CB989964,CR604013,DA174963,DA210275 NP_001092267,NP_116272,NP_001092266,NP_001092268,CAI42198,CAI42200,CAI42201,CAI42202,EAW75944,EAW75945,EAW75946,EAW75947,BAB70860,BAF82595,Q96NM4,ABZ92412 Hs.26608 GDB:11505050 C20orf100|GCX-1|MGC15880|dJ1108D11.2|dJ495O3.1 chromosome 20 open reading frame 100 protein-coding 1323035 TOX3 TOX high mobility group box family member 3 TOX3 belongs to the large and diverse family of HMG-box proteins that function as architectural factors in the modification of chromatin structure by bending and unwinding DNA (O'Flaherty and Kaye, 2003 [PubMed 12697058]).[supplied by OMIM] 1580863 18437204,18355772,17997823,17529967,14702039,12697058,9225980 27324 NM_001080430,AC007490,CH471092,AK025084,AK027006,AK095095,U80736 NP_001073899,EAW82787,AAB91435,O15405 Hs.460789 GDB:10795954 CAGF9|TNRC9 trinucleotide repeat containing 9 protein-coding 1350277 TOX4 TOX high mobility group box family member 4 16713569,16344560,15489334,15231748,15231747,12477932,9872452,8889548 9878 NM_014828,NG_001332,AE000658,AL161747,CH471078,AB018280,AY305872,BC013689,BC020292,BC020727,BC035050,BQ676957,BU677026,CR591487,CR595081,CR603862,CR607593,CR609896,CR611358,CR611395,CR622640,CR624614,DA334895 NP_055643,EAW66380,EAW66381,BAA34457,AAQ95214,AAH13689,O94842,Q5J9I5,ABZ92394 Hs.555910 C14orf92|KIAA0737|LCP1|MIG7 chromosome 14 open reading frame 92 protein-coding 70502 TP53 tumor protein p53 This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mutants of p53 that frequently occur in a number of different human cancers fail to bind the consensus DNA binding site, and hence cause the loss of tumor suppressor activity. Alterations of this gene occur not only as somatic mutations in human malignancies, but also as germline mutations in some cancer-prone families with Li-Fraumeni syndrome. Multiple p53 variants due to alternative promoters and multiple alternative splicing have been found. These variants encode distinct isoforms, which can regulate p53 transcriptional activity. 1580742,1580743,1302543,1302544,1331525,1302545,1580863,1302573,1300048,1358139,2290536,2290541,2290573,2290535,2290544,2290545,2290568,2290534,2290537,2290542,2290557,2290572,2290531,2290533,2290540,2289931,2290554,2290561,2290532,2290539,2290551,2290571,2290577 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043423,16039051,16038035,16037820,16033918,16033823,16030116,16024113,16014569,16012716,16009172,16007417,16007163,16007153,16004824,15998635,15998523,15993843,15993272,15991278,15987456,15981211,15981097,15979781,15977174,15967108,15966238,15964795,15964625,15961390,15960923,15958617,15958551,15950944,15950766,15945132,15943410,15943041,15942101,15942083,15941720,15940268,15937335,15933740,15927816,15925988,15923430,15923428,15917726,15917304,15916722,15913547,15911628,15908423,15907477,15906362,15906354,15905603,15905205,15905198,15902745,15902285,15900046,15899386,15888975,15882981,15882069,15878620,15876864,15866118,15865935,15865925,15865924,15856024,15855171,15851483,15851479,15850555,15849742,15848594,11566488,11564578,11562347,11559355,11554765,11554448,11551930,11546806,11535556,11528400,11527429,11519852,11518545,11511362,11507974,11507088,11504770,11501650,11500059,11486030,11483158,11481490,11458982,11447225,11430832,11429426,11427532,11420669,11416144,11409876,11403041,11360197,11359905,11340159,11328884,11327730,11311202,11297531,11293726,11285227,11283254,11278647,11278372,11259085,11258898,11255264,11251186,11245491,11240705,11239457,11238924,11196199,11175333,11174479,11172000,11165394,11146555,11146230,11130248,11118038,11106654,11099047,11097227,11094089,11080152,11058590,11050162,11046142,11045785,11025664,11024482,11023613,11007800,11002963,10961991,10958792,10951572,10942770,10930427,10913622,10913176,10891493,10884347,10882116,10876243,10853038,10850547,10848610,10842192,10825186,10823891,10794522,10766163,10749849,10747897,10744705,10736619,10721693,10713716,10673501,10656795,10644996,10644693,10634809,10629029,10608892,10606744,10597287,10484981,10477429,10470151,10468612,10415337,10380882,10358050,10348343,10347180,10214938,10198638,10078201,9935181,9926942,9891077,9891054,9843217,9840937,9811893,9809062,17541742,17540599,17540598,17538794,17537232,17536310,17535973,17535811,17534149,17533375,17531965,17530187,17525743,17523278,17518987,17516921,17515610,17513613,17513604,17511743,17510313,17505880,17504517,17504512,17504383,17500067,17499812,17499344,17498291,12779080,12773566,12772781,12771886,12768030,12767266,12766905,12761448,12759537,12759240,12756585,12750388,12750368,12750285,12750254,12749011,12748190,12743601,12743423,12738987,12735900,12732139,12731623,12727844,12725534,12725531,12725330,12725329,12724314,12716906,12713809,12712134,12708345,12706118,12704785,12702766,12700230,12698197,12698195,12694871,12692266,12690203,12687276,12687275,12684648,12684392,12679912,12673251,12670900,12670866,12670525,12669312,12668287,12665570,12660163,12654245,12648751,12646262,9765199,9744860,9732264,9685344,9628871,9620776,9571186,9569035,9565608,9537326,9492043,9482880,9472015,9450901,9444950,9440695,9419979,9393873,9380510,9373149,9372954,9369221,9349507,9321402,9312058,9288740,9226370,9194565,9183006,9143503,9129988,9119221,9110174,9101296,9010216,8961277,8943363,8921390,8895579,8875929,8875926,8829653,8829627,8825920,8816502,8668206,8649785,8632915,8632903,8623910,8619474,8617246,8513440,8423216,8402617,8401536,8389468,8364550,8336944,8316628,8266092,8207805,15256449,15256442,15254760,15254240,15247280,15240512,15234210,15231748,15230885,15226443,15225611,15222050,15220443,15218947,15216398,15208672,15202001,15201979,15201971,15201954,15199150,15199139,15199132,15195682,15192123,15187095,15186775,15183536,15183535,15183530,15178678,15177663,15170665,15168247,15161716,15159397,15158001,15155568 1580742,1580743,1302543,1302544,1331525,1302545,1302573,2290536,2290541,2290573,2290535,2290544,2290545,2290568,2290534,2290537,2290542,2290557,2290572,2290531,2290533,2290540,2289931,2290554,2290561,2290532,2290539,2290551,2290571,2290577 7157 AF209133,AF209134,AF209135,AF209136,AF209148,AF209149,AF209150,AF209151,AF209152,AF209153,AF209154,AF209155,AF209156,AF210309,AF210310,AF240684,AF240685,AY270155,AY359814,AY390341,AY838896,CH471108,DQ075362,DQ485151,DQ486036,DQ486038,DQ486039,DQ486040,DQ812984,M13121,M22881,M22898,U63714,U94788,X54156,CR624912,DA308036,DA932053,DQ186648,DQ186649,DQ186650,DQ186651,DQ186652,DQ191317,DQ263704,DQ286964,DQ401704,DQ485152,AB082923,NM_000546,NM_001126112,NM_001126113,NM_001126114,NM_001126115,NM_001126116,NM_001126117,AB118156,AC007421,AC087388,AF135121,AF136271,AF209128,AF209129,AF209130,AF209131,AF209132,AF052180,AF307851,AK223026,AK225838,AK312568,AM076970,AM076971,AM076972,AU131823,AY429684,AY627884,BC003596,BT019622,CR608294,DQ648884,DQ648885,DQ648887,EF101867,EF101868,EF101869,M14694,M14695,X01405,X02469,X60010,X60011,X60012,X60013,X60014,DQ648883,X60015,X60016,X60017,X60018,X60019,X60020 AAF36358,AAF36359,AAF36360,AAF36361,AAF36362,AAF36374,AAF36375,AAF36376,AAF36377,AAF36378,AAF36379,AAF36380,AAF36381,AAF36382,AAF63442,AAF63443,AAK76358,AAK76359,AAP30003,AAR13239,AAQ90158,AAV80424,EAW90140,EAW90141,EAW90142,EAW90143,EAW90144,EAW90145,AAZ05887,ABF61799,ABF51616,ABF51617,ABF51618,ABF51619,ABG67755,AAA59987,AAA59988,AAB39322,AAC12971,CAA38095,ABA29753,ABA29754,ABA29755,ABA29756,ABA29757,ABB80262,ABB72446,ABB80266,ABD62752,NP_000537,NP_001119584,NP_001119585,NP_001119586,NP_001119587,NP_001119588,NP_001119589,BAD11806,AAD28535,AAD28628,AAF36354,AAF36355,AAF36356,AAF36357,AAG28785,BAD96746,BAG35463,CAJ28922,CAJ28924,CAJ28923,AAR10356,AAT40418,AAH03596,AAV38428,BAC16799,ABF61800,ABG49480,ABG49481,ABG49482,ABL09846,ABL09847,ABL09848,AAA61211,AAA61212,CAA25652,CAA26306,CAA42625,CAA42626,CAA42627,CAA42628,CAA42629,CAA42630,CAA42631,CAA42632,CAA42633,CAA42634,CAA42635,P04637,Q0PKT5,Q0ZAJ9,Q0ZAK0,Q0ZAK1,Q19RW5,Q19RW6,Q1HGV0,Q1HGV1,Q1HGV2,Q1HGV3,Q1MSW8,Q1MSW9,Q1MSX0,Q27HK5,Q2XN98,Q2XSC7,Q3LRW1,Q3LRW2,Q3LRW3,Q3LRW4,Q3LRW5,Q4FEW1,Q53GA5,Q5U0E4,Q6IT77,Q761V2,ABM83418,ABM86630 Hs.654481 GDB:120445 FLJ92943|LFS1|TRP53|p53 protein-coding 1345809 TP53AP1 TP53 activated protein 1 1580863 9713990,12690205,12477932 11257 NM_007233,NR_015381,AC005045,CH236949,CH471091,AB007455,AB007456,AB007457,AB007458,BC002709,BC061927,BC068535,BC103631,BT009845,CR542141,CR601454 NP_009164,EAL24178,EAW76955,EAW76956,EAW76957,EAW76958,EAW76959,BAA78640,BAA78641,BAA78642,BAA78643,AAH61927,AAH68535,AAP88847,CAG46938,Q9Y2A0 Hs.274329 P53TG1|P53TG1-D|TP53TG1 miscrna 1317577 TP53BP1 tumor protein p53 binding protein 1 1580863 12607005,17525332,9748285,12556884,18380789,17985346,17984114,17940005,17927872,17695720,17637749,17634560,17591918,17546051,17190600,17161371,17081983,17043355,16964243,16314399,16294047,16294045,16187115,16094384,16051665,15970701,15840649,15611139,15574327,15542852,15539948,15525939,15489334,15302935,15279780,14702039,14695167,14690447,14576432,12824158,12697768,12668657,12646190,12551934,12477932,12447382,12446782,12364621,12351827,12170762,12110597,11877378,11042216,8910340,8896460,8016121,7890747,15364958,12447390,12792649,15456759,14978302,15856006,10646849 7158 NM_005657,AC018924,AY904026,CH471125,AB210025,AF078776,AK123418,AK292915,BC063119,BC112161,BX537418,U09477 NP_005648,AAW69392,EAW92604,EAW92605,BAE06107,AAC62018,BAF85604,AAI12162,CAD97660,AAA21596,Q12888 Hs.440968 GDB:6277705 53BP1|FLJ41424|MGC138366|p202 protein-coding 1313500 TP53BP2 tumor protein p53 binding protein, 2 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10498867,8668206,11684014,12694406,14729977,9748285,15782125,17594908,17081983,16713569,16620772,16169070,16139958,16098144,16091363,15986435,15757645,15731768,15592436,15489334,15324660,15231748,15144186,14766226,12477932,11278422,11027272,10646860,10631318,10508479,9345910,9169421,8875926,8549741,8016121,11278849,15706352,14985081 7159 NM_001031685,NM_005426,AC096542,CH471100,AA961496,AI042183,AJ318888,AL357198,AL357233,BC040247,BC046150,BC058918,BX425756,U09582,U58334 NP_001026855,NP_005417,EAW93247,EAW93248,CAC83012,AAH40247,AAH46150,AAH58918,AAA21597,AAC50557,Q05BL1,Q13625 Hs.523968 GDB:6277707 53BP2|ASPP2|BBP|PPP1R13A|p53BP2 protein-coding 1351465 TP53CP tumor protein p53-competing protein 9405685 7160 GDB:9837235 1318140 TP53I11 tumor protein p53 inducible protein 11 1580863 9305847,17482569,16344560,16170329,15225615,14702039,12883691,12477932,9110174,8619474 9537 AK096176,AK292837,BC000443,BC003010,BC045666,BC065557,BC071606,CR602540,DA190266,DA729260,U79302,AK056379,NM_006034,NM_001076787,AC068858,AC092733,CH471064,AF010315,AK026607,AK054815 BAC04717,BAF85526,AAH00443,AAH45666,AAH65557,AAB50226,O14683,Q3ZCS0,Q6P0M0,Q8N8U5,Q99785,NP_006025,NP_001070255,EAW68052,EAW68053,EAW68054,EAW68055,EAW68056,EAW68057,AAC39533 Hs.554791 PIG11 protein-coding 1605319 TP53I13 tumor protein p53 inducible protein 13 16303743,14767535,14702039,12477932 90313 NM_138349,AB110214,AC104564,CH471159,CS051131,AB110209,AK075341,AK093030,AL137404,BC001593,BC004507,CR594148,CR612916,CR621821 NP_612358,BAD08208,EAW51192,EAW51193,EAW51194,EAW51195,CAI72061,BAD08203,BAC11555,CAB70727,AAH01593,Q8NBR0,Q9NTB5 Hs.514050 DSCP1 protein-coding 1602900 TP53I3 tumor protein p53 inducible protein 3 The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. At least two transcript variants encoding the same protein have been found for this gene. 16169070,15815621,15491642,15489334,15192123,15067011,12477932,11919562,10840161,9373149,9305847,8125298,16009130 9540 NM_004881,NM_147184,AC008073,AF010317,CH471053,DQ232851,AF010309,AK223382,AY371700,BC000474,BC018819,BT007149,CR605377,CR619579 NP_004872,NP_671713,AAY14665,AAC39535,EAX00762,EAX00763,EAX00764,EAX00765,EAX00766,ABB02183,AAC39528,BAD97102,AAQ90166,AAH00474,AAP35813,Q53FA7 Hs.50649 PIG3 protein-coding 1349699 TP53INP1 tumor protein p53 inducible nuclear protein 1 1580863 17537403,17393983,16521180,16044147,15489334,14702039,12851404,12477932,12438758,12067065,11511362,15706352 94241 NM_033285,AB062056,AC087752,CH471060,AB017926,AB017927,AF409114,AF409115,AK025792,AK123608,AK125880,AK130074,AL133074,AL833652,BC074813,BC074868 NP_150601,BAB62151,BAB62152,EAW91739,EAW91740,EAW91741,BAB62149,BAB62150,AAL04513,AAL04514,AAH74813,AAH74868,Q96A56 Hs.700624 GDB:11504465 DKFZp434M1317|FLJ22139|SIP|TP53DINP1|TP53INP1A|TP53INP1B|Teap|p53DINP1 protein-coding 1352381 TP53INP2 tumor protein p53 inducible nuclear protein 2 737633,1580863 17238154,15489334,12477932,11780052 737633 58476 NM_021202,AL109824,CH471077,AJ297792,AK025412,AK027153,AK292443,AL122050,AL137597,AY422170,BC035639 NP_067025,CAI19373,CAI19374,CAI19375,EAW76256,EAW76257,EAW76258,CAC82592,BAF85132,AAR23799,AAH35639,Q5JX66,Q8IXH6 Hs.516994 C20orf110|DKFZp434B2411|DKFZp434O0827|FLJ21759|FLJ23500|PINH|dJ1181N3.1 protein-coding 1345974 TP53L tumor protein p53-like 9618472 8461 GDB:9958917 1317644 TP53RK TP53 regulating kinase 1580863 11546806,17712528,16600182,16189514,15489334,14702039,12914926,12659830,12477932,11780052,8889548,15380516 112858 NM_033550,AL031055,AL133520,CH471077,AB017505,AB065434,AK096502,BC009727,BC010637,BC019621,BC035461,BC066309,BM702732,CR606281 NP_291028,CAC00561,CAI20059,EAW75727,BAB61875,BAB62041,AAH09727,AAH10637,AAH66309,Q96S44 Hs.440263 BUD32|C20orf64|Nori-2|Nori-2p|PRPK|dJ101A2 protein-coding 1602331 TP53TG3 TP53TG3 protein 14702039,12477932,10534768 24150 NM_016212,AC138907,AB023508,AB023509,AK097435,AL133588,BC096700,BC096733,BC098165,BC099842,CR541650 NP_057296,BAA84978,BAA84979,CAH10710,AAH96700,AAH96733,AAH98165,AAH99842,CAG46451,Q9ULZ0 Hs.592038 TP53TG3A protein-coding 1316062 TP73 tumor protein p73 This gene encodes tumor protein p73, which is a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include p53, p63, and p73 and have high sequence similarity to one another, which allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways involving direct or indirect protein interactions, resulting in regulation of the same target gene promoters or regulation of each other's promoters. The p73 protein is expressed at very low levels in normal tissues and is differentially expressed in a number of tumors. The p73 gene expresses at least 35 mRNA variants due to the use of alternate promoters, alternate translation initiation sites, and multiple splice variations. Theoretically this can account for 29 different p73 isoforms; however, the biological validity and the full-length nature of most variants have not been determined. 1580863,1599583,2291831,2291830,2291837,2290584,2290587,2290585,2291835,2291842,2290492,2290586,2291838,2290590,2290582,2290588,2291833,2291834,2291836,2290583,2290589 11988839,11957139,11925430,11920588,11909952,11897798,11891335,11870517,11859407,11844800,11844794,11840343,11839584,11832207,11804596,11788901,11753569,11720435,11709703,11706030,11675903,11470228,11389695,11279015,11278685,15390192,15360002,15359011,15302867,15291355,15184504,15180941,15175157,15175114,15161684,15138575,15081420,15077164,15070730,15066318,15033688,14760085,14757278,14732927,14719122,14701724,14678968,14654547,14654522,14634023,14618632,14614455,14522906,14511408,12969350,12954772,12954612,12934108,12920125,12901798,12890487,12875622,12853970,12841870,12824179,12810679,12789260,12782576,12766778,12761493,12750388,12732139,12676926,12642871,12639967,12601175,12584188,12546528,12534345,12519788,12477932,12430182,12427762,12388104,12353228,12213815,12167641,12164325,12150978,12133444,12097319,12095638,12082536,12080043,12034725,12032848,12023887,11238924,10469568,11748232,14729977,15678106,10391251,10391249,18342333,18289041,18239687,18174154,18022156,17982488,17952118,17912537,17889669,17825253,17761206,17716971,17695396,17693405,17690711,17626635,17617876,17611664,17496887,17452332,17446929,17428654,17385050,17347683,17346710,18234963,17336302,11223036,11103943,11101847,10961991,10873608,10802655,10760569,10744705,10648616,10574463,10509157,10449409,10435614,10419905,10400412,10391250,10381648,10362363,10221564,10207051,10203277,10102633,9891077,9802988,9796703,9721206,9537234,9296498,9288759,15893728,12730672,17297437,17169329,17150106,17136456,17094900,17058198,17047653,17018588,17013834,16980297,16953234,16950799,16869745,16831876,16818688,16815295,16814250,16750013,16741250,16738062,16721041,16710414,16645632,16636659,16601753,16580132,16449968,16436381,16434604,16430884,16413471,16397624,16344560,16343436,16290057,16235026,16205639,16203738,16195739,16181796,16135803,16110322,16087678,16087177,16044147,15985436,15978938,15975558,15921610,15919663,15877106,15865927,15865923,15849769,15849742,15813917,15769743,15741235,15737644,15734740,15723830,15723718,15650240,15609309,15598310,15578704,15572666,15572378,15558019,15492852,15492805,15489334,15475076,15466174,17304243,15450420 1599583,2291831,2291830,2291837,2290587,2290585,2291835,2291842,2290492,2290586,2291838,2290590,2290588,2291833,2291834,2291836,2290583,2290589 7161 NM_005427,NM_001126240,NM_001126241,NM_001126242,AB031234,AF077616,AF077618,AF077619,AF077620,AF077621,AF077625,AF077626,AF077627,AF077628,AF079082,AF079083,AF079085,AF079086,AF079087,AF079088,AF079089,AF079090,AF079091,AF079092,AF079093,AF079094,AF235000,AL136528,CH471130,AB055065,AB055066,AY040827,AY040828,AY040829,BC117251,BC117253,CR599961,DA439168,DA446656,DC345760,Y11416 NP_005418,NP_001119712,NP_001119713,NP_001119714,AAC61887,AAD39696,CAI19123,CAI19124,CAI19125,CAI19126,CAI19127,EAW71463,EAW71464,EAW71465,EAW71466,EAW71467,EAW71468,BAB87244,BAB87245,AAK81884,AAK81885,AAK81886,AAI17252,AAI17254,CAA72219,CAA72220,CAA72221,O15350 Hs.697294 GDB:9558173 P73 protein-coding 1604844 TP73L tumor protein p73-like 16133456,16082248,16007146,15988026,15988020,15983386,15965232,15944736,14654522,14599865,15922574,15875781,15846104,15761962,15611636,15578720,15551738,15539951,15529180,15489655,15489334,15467455,15389254,15359011,15254760,15201986,15024707,15001991,14757278,14729977,14684701,14656652,14654529,14555649,14519656,12969350,12954772,12939657,12815266,12788532,12782800,12692135,12534798,12533521,12525544,12477932,12379768,12379767,12374749,12368193,12358808,12357472,12161593,12102658,12086851,12037717,11957139,11932750,11929852,11925430,11893750,11879774,11839669,11787035,11739646,11733180,11727253,11528512,11477076,11462173,11336476,11248048,11238924,11159940,10935472,10839977,10744705,10535733,10485447,10469295,9799841,9799226,9703973,9662346,8695800,12481011,12750249,12653579,12185332,12640112,16406339,16343436,16324199,16322335,16319531,16319057,16273287,16273188,16187309,16181796,16152605,12446779,12446784,9774969,9662378,11641404,10373484,17521434,17446929,17399686,17336302,17312919,17276940,17188034,17172858,17159913,17106255,17050669,16979518,16842248,16831876,16804722,16740912,16715076,16681688,16681687,16679535,16630179,16618808,16616891,16581802,16575619,16516862,16481749,16462763,16449968,16446369,16417229,16413471,16410722 8626 AF116769,NM_003722,AC063939,AC078809,AC117486,AF116771,AJ315499,BC039815,Y16961,AF116770,AF124539,AF124540,AY339663,AY341143,AY341144,AY342152,AY342153,AY342154,CH471052,AB010153,AB016072,AB016073,AB042841,AF061512,AF075428,AF075429,AF075430,AF075431,AF075432,AF075433,AF091627 AAF43487,AAF43488,AAF43489,AAF43491,AAF43492,NP_003713,AAF61624,CAC48053,AAH39815,CAA76562,Q9H3D4,AAF43493,AAF43486,AAF43490,AAG45607,AAG45608,AAG45610,AAG45611,AAG45609,AAG45612,AAQ63449,AAQ63450,AAQ63451,AAQ63452,AAQ63448,AAQ63453,AAQ63454,EAW78112,EAW78113,EAW78114,EAW78115,EAW78116,EAW78117,EAW78118,EAW78119,EAW78120,BAA32433,BAA32592,BAA32593,BAB20591,AAC24830,AAC62633,AAC62634,AAC62635,AAC62636,AAC62637,AAC62638,AAC43038 Hs.137569 GDB:11510794 B(p51A)|B(p51B)|EEC3|KET|LMS|OFC8|RHS|SHFM4|TP63|p51|p63|p73H|p73L protein-coding 1345613 TPBG trophoblast glycoprotein 1580863 10366710,17978129,16646078,16616918,16303743,15489334,14574404,12481437,12477932,11903056,11798178,8895545,8132670,7593330 7162 NM_006670,AJ012159,AL121977,CH471051,CQ782726,AK074786,AK074790,AK291170,BC037161,CR626321,Z29083 NP_006661,CAA09930,CAI21546,EAW48683,CAF85961,BAF83859,AAH37161,Q13641,CAA82324 Hs.82128 GDB:125568 5T4|5T4-AG|M6P1 protein-coding 1344084 TPCN1 two pore segment channel 1 Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM] 724765 16382101,14702039,12477932,12168954,10753632,10574461 724765 53373 NM_017901,AC010178,AC089999,AC127004,CH471054,AB032995,AK000619,AK057414,AK075071,AK093490,AY083666,BC007419,BC069234,BC136795,BC136796,BC142664,BC150203,BC152423,CR599771 NP_060371,EAW98046,EAW98047,BAA86483,BAA91290,BAC11385,AAM01199,AAI36796,AAI36797,AAI42665,AAI50204,AAI52424,Q9ULQ1,Q9NWT7 Hs.524763 FLJ20612|KIAA1169|TPC1 protein-coding 1323411 TPCN2 two pore segment channel 2 1580863 18488028,16554811,16382101,15489334,15342556,15203218,14702039,12477932 219931 NM_139075,AP003071,CH471076,AB209253,AK023366,AK123089,AL137479,AW177543,AY029200,BC063008,BP380645,CD636711 NP_620714,EAW74734,EAW74735,EAW74736,EAW74737,BAD92490,CAB70760,AAK31802,AAH63008,Q59G56,Q8NHX9 Hs.131851 FLJ41094|TPC2 protein-coding 1315573 TPD52 tumor protein D52 1580863 15576473,9484778,8632896,16112108,10942595,15986428,15489334,14996714,14702039,12963375,12477932,11594751,11549320,9373149,8812487,8125298,7796418,16189514,16620967,17947466,17418805,17081983,16631610 7163 NM_005079,NM_001025253,NM_001025252,AC009686,CH471068,AF202897,AK057075,AK223631,BC018117,BI546831,BI551254,BT019444,BX640835,CA842828,CR542034,CR542064,CR591025,EF152584,S82081,U18914 NP_005070,NP_001020424,NP_001020423,EAW87073,EAW87074,AAO22156,BAD97351,AAH18117,AAV38251,CAE45908,CAG46831,CAG46861,ABO34073,AAB36475,AAC50183,P55327,Q53EK8,Q6FGP3,Q6FGS3,Q86YZ2,Q9UCX8,ABM81958,ABM85137 Hs.368433 GDB:1220112 D52|N8L|PC-1|PrLZ|hD52 protein-coding 1320807 TPD52L1 tumor protein D52-like 1 This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. 1580863 14761963,9484778,16112108,12963375,16631610,16620967,14702039,12477932,11549320,9730602,8812487,7796418,16189514,11594751 7164 NM_003287,NM_001003396,NM_001003397,NM_001003395,AL121938,AL136128,CH471051,AF004427,AF208012,AK090516,AK124817,AK291866,AK291872,AK291887,BC002375,BE409865,CR599743,U44427,U44428,U44429 NP_003278,NP_001003396,NP_001003397,NP_001003395,CAI19645,CAI19647,CAI19648,CAI19649,CAI23002,CAI23003,CAI23004,EAW48142,EAW48143,EAW48144,EAW48145,EAW48146,EAW48147,AAC98475,AAG49634,BAF84555,BAF84561,BAF84576,AAH02375,AAB40894,AAB40895,AAB40896,O43397,Q15730,Q16890,Q5TC99,Q5TDQ0,Q9BUQ6,Q9C054 Hs.591347 GDB:1220113 D53|MGC8556|TPD52L2|hD53 protein-coding 1352243 TPD52L2 tumor protein D52-like 2 1302805,1580863 9484778,16631610,17081983,16620967,16344560,16112108,15489334,14702039,12477932,11780052,11549320,9838088,9373149,8812487,8125298 1302805 7165 NM_199360,NM_199362,NM_003288,NM_199361,NM_199363,NM_199359,AL118506,CH471077,AB062396,AF004429,AF004430,AK055068,AK125709,AK128744,AK223031,AU124850,AY323819,BC006804,BI754201,BM473873,BM833522,BT019631,CR542036,CR600606,CR603624,CR749208 NP_955392,NP_955394,NP_003279,NP_955393,NP_955395,NP_955391,CAC15492,CAI21898,CAI21899,CAI21900,CAI21901,CAI21902,EAW75194,EAW75195,EAW75196,EAW75197,EAW75198,EAW75199,EAW75200,EAW75201,BAB93483,AAC98477,AAC98478,BAC87594,BAD96751,AAQ95044,AAH06804,AAV38437,CAG46833,CAH18065,O43398,O43399,Q53GA0,Q5J908,Q5JWU5,Q5JWU6,Q5JWU8,Q5U0E0,Q68E05,Q6FGS1,Q6ZQT9,ABM82047,ABM85226 Hs.473296 GDB:9835795 D54|DKFZp686A1765|hD54 protein-coding 1606756 TPD52L3 tumor protein D52-like 3 16631610,16189514,14702039,12477932 89882 NM_001001874,NM_001001875,NM_033516,AL133480,CH471071,AI032390,AK057479,AY032877,BC017589,BC033792,BC042113,BI463769 NP_001001874,NP_001001875,NP_277051,CAI13289,CAI13290,CAI13291,EAW58745,EAW58746,EAW58747,BAB71505,AAK66820,AAH17589,AAH33792,AAH42113,Q96J77 Hs.351815 MGC26757|MGC45374|NYD-SP25|hD55 protein-coding 735482 TPH1 tryptophan hydroxylase 1 (tryptophan 5-monooxygenase) This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the gut, pineal gland, spleen, and thymus. 1580457,1580458,1580459,1580460,1580461,1580462,1580463,1580464,1580465,1580466,1580467,1580468,1580469,1580863 17203304,17194593,17134762,17116352,17066254,17026953,16958027,16848783,16822601,16806099,16806098,16741719,16716203,16682118,16538180,16495936,16467214,16450114,16389593,16389591,16319504,16314762,16302021,16257348,16165107,16109589,11578639,11576585,11526473,11496367,11496362,11472792,11449402,11444684,11426508,11343864,11343598,11326294,11324941,11274651,11150890,11140838,11121198,10525150,10421874,10217286,9751214,9109552,8101440,7986090,7499362,2889273,2377472,2055111,1463016,15241435,15211625,15182943,15168220,15135070,15052272,14998306,14706424,14698468,14681922,14583797,14559114,14504413,12960746,12915291,12877392,12860364,12502014,12477932,12476329,12406341,12399958,12379098,12354289,12208565,12116193,12116191,12039872,11992558,11772685,11747434,11597824,18366104,18332644,18270970,18181017,18177948,17986837,17870198,17768266,17548152,17521439,17509016,17406648,17221847,15925123,15808291,15799788,15727508,15722951,15670397,15654285,15635702,15627807,15544576,15489334,15475734,15274037,15242065 1580457,1580458,1580459,1580460,1580461,1580462,1580463,1580464,1580465,1580466,1580467,1580468,1580469 7166 NM_004179,AC055860,AF057280,CH471064,AY196344,AY196345,BC106739,BC106740,X52836,AY196346 NP_004170,AAC69458,AAC69459,EAW68420,EAW68421,EAW68422,AAO72075,AAO72074,AAI06740,AAI06741,CAA37018,P17752,Q08EN2,Q86WC5,Q86Y19,Q86Y20,AAO72076 Hs.591999 MGC119994|TPH|TPRH tryptophan hydroxylase protein-coding 736716 TPH2 tryptophan hydroxylase 2 This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. 633509,1580863 16894395,16864580,16806105,16801378,16759340,16610957,16610949,16581035,16436194,16401665,16395128,16245070,16116490,16044172,15968084,15940290,15840421,15768392,15629698,15476687,15263906,15197398,15167691,15124006,15052272,14702039,14563478,12511643,12477932,18436425,18427560,18405071,18387780,18347598,18293859,18270970,18234415,18213624,18181017,18163388,17986837,17973628,17972101,17905754,17892388,17768266,17692928,17604842,17592484,17568567,17539919,17453063,17413454,17408646,17346350,17335389,17251907,17221847,17217922,17192895,17176492,17176491,17167340,17123728,17123708,17015812,17011525,16958027,16936760 633509 121278 NM_173353,AC090109,CH471054,AK094614,AY098914,BC114442,BC114499 NP_775489,EAW97277,EAW97278,EAW97279,BAC04385,AAM28946,AAI14443,AAI14500,Q14CB0,Q14CC5,Q8IWU9,Q8N1X9 Hs.376337 FLJ37295|MGC138871|MGC138872|NTPH protein-coding 737023 TPI1 triosephosphate isomerase 1 1599584,1300048 2876430,2579079,17081983,17064784,17015754,17008404,16916647,16807684,16582619,16086671,15952740,15489334,15358119,15146421,14743370,12477932,12359716,12051920,12023819,11698297,10677844,10655478,9850739,9373149,9338582,9150948,9150946,9074930,8723724,8609635,8571957,8503454,8125298,8061610,6434534,4022011,2925688,2243103,1602151,1339398,858628,16189514 1599584 7167 BC017165,BC017917,BC070129,CR541702,CR591142,CR594819,CR595027,CR595384,CR595558,CR597650,CR597755,CR598153,CR604095,CR604097,CR610831,CR611208,CR611677,CR612200,CR616257,CR617208,CR618326,CR618352,CR620313,CR620677,CR622790,CR625901,CR626424,M10036,NM_000365,CH471116,J04603,U47924,X69723,AK129488,AK222638,BC007086,BC007812,BC009329,BC011611,BC015100 AAH17165,AAH17917,AAH70129,CAG46503,AAB59511,P60174,Q53HE2,Q6FHP9,ABM84175,ABM87577,NP_000356,EAW88721,EAW88722,EAW88723,AAN86636,AAB51316,CAA49379,BAD96358,AAH07086,AAH07812,AAH09329,AAH11611,AAH15100 Hs.524219 GDB:119617 MGC88108|TPI protein-coding 1348190 TPK1 thiamin pyrophosphokinase 1 This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 17295612,16344560,16262001,16087053,15664409,15489334,14702039,12953792,12690205,12477932,11342117,11342111,10567383,9847074,6303095,3896163,1332781 27010 NM_022445,AACC02000041,AC004534,AC004743,AC004833,AC004864,AC005677,AC074384,CH471146,AB028138,AF297710,AK021810,AK026374,AK091736,AK128661,AK130640,AK289652,AY206415,BC014552,BC040555,BC068460,NM_001042482,BI770816,BX446289,CR749248,DA135998 NP_001035947,NP_071890,EAL24415,AAS00370,EAW80091,EAW80092,BAB20326,AAK01351,BAB15465,BAC87556,BAF82341,AAO38775,AAH14552,AAH40555,AAH68460,CAH18104,Q49AC5,Q68DW6,Q6NUR5,Q6ZQX6,Q75MX1,Q9H3S4 Hs.660232 GDB:11504601 HTPK1|PP20 protein-coding 737098 TPM1 tropomyosin 1 (alpha) This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. 1580447,1580863 8205619,16130169,3336363,16754800,17932326,17895359,17556170,17360712,16260624,16189514,15897890,15695827,15489334,15479242,15269838,15146197,15095301,15031138,15000344,14870975,14702039,13679858,12974739,12686598,12594734,12527301,12477932,12473556,12169652,12065096,11964245,11840567,11563548,11438684,11136687,11071908,10343096,9822100,9108196,9092943,9016781,8987992,8886980,8523464,8327508,7916663,7898523,7835079,7780795,7568216,6822572,6746613,3857586,3611073,3548719,3336357,3138425,2136742,1796905,1631061,278975,1516138,8424456,1991513 1580447 7168 NM_001018020,NM_001018007,NM_001018006,NM_001018004,NM_000366,NM_001018005,NM_001018008,AC079328,CH471082,AB209041,AF474156,AJ000147,AJ001055,AK055197,AK057989,AK092051,AK092573,AK129882,AK131384,AL050179,AY640414,AY640415,BC007433,BC050473,BC053545,BG107949,BX458841,CN423344,CR590047,CR591288,CR593513,CR594134,CR595152,CR597428,CR598963,CR601382,CR602172,CR602634,CR603337,CR603403,CR604315,CR604708,CR605281,CR607138,CR607666,CR607922,CR610269,CR610855,CR612660,CR618272,CR619070,CR620556,CR621772,CR622076,CR623222,CR623323,CR623950,CR625156,CR626242,DQ424903,L02922,L02923,M19713,M19714,M19715,CR593146,X12369,Z24727 NP_001018020,NP_001018007,NP_001018006,NP_001018004,NP_000357,NP_001018005,NP_001018008,EAW77619,EAW77620,EAW77621,EAW77622,EAW77623,EAW77624,EAW77625,EAW77626,EAW77627,EAW77628,EAW77629,EAW77630,EAW77631,EAW77632,EAW77633,EAW77634,EAW77635,BAD92278,AAL84569,CAA03930,CAA04505,BAC85248,BAD18535,CAB43309,AAT68294,AAT68295,AAH07433,AAH50473,AAH53545,ABD83668,AAA16888,AAA16889,AAA61225,AAA61226,AAA61227,CAA30930,CAA80853,O15513,P09493,Q07413,Q07414,Q15657,Q1ZYL5,Q59GR8,Q6DV89,Q6DV90,Q6ZN40,Q6ZP76,Q7Z6L8,Q8TCG4,Q9UCI1,Q9UCI2,Q9Y427,ABM84185,ABM87587 Hs.133892 GDB:127875,GDB:138299 C15orf13|CMD1Y|HTM-alpha|TMSA tropomyosin 1, alpha protein-coding 1605428 TPM2 tropomyosin 2 (beta) The TPM2 gene encodes beta-tropomyosin, an isoform of tropomyosin that is mainly expressed in slow, type 1 muscle fibers (Tajsharghi et al., 2007 [PubMed 17846275]). See also TPM1 (MIM 191010), TPM3 (MIM 191030), and TPM4 (MIM 600317).[supplied by OMIM] 17194691,7606936,17846275,17430991,17339586,15897890,15489334,15208309,15164053,12592607,12477932,11840567,11738357,10359609,9373149,9108196,9092943,9016781,8557685,8125298,8120097,7977374,7568216,3865200,3857586,3368322,2303454,2059197,1631061,1304342,8424456,1516138 7169 CR595311,CR614416,CR615839,CR623852,CR626020,EU106177,M12125,M12126,M74817,M75165,X06825,AK223258,NM_003289,AF209746,AL133410,CH471071,J05247,AA394062,AI360640,AI660199,AJ572605,AK130045,NM_213674,BC011776,CR590682 ABU62930,AAA36773,AAA61229,AAA61230,AAB59509,CAA29971,P07951,Q5TCU3,ABM83834,BAD96978,ABM87158,NP_998839,NP_003280,AAF17621,CAI10974,CAI10975,CAI10976,CAI10977,EAW58354,EAW58355,EAW58356,EAW58357,EAW58358,AAA51842,AAH11776 Hs.300772 GDB:127876 AMCD1|DA1|DA2B|TMSB protein-coding 1605427 TPM3 tropomyosin 3 This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple transcript variants encoding different isoforms have been found for this gene. 17353931,16130169,3418707,3018581,18300303,17376686,17081983,16916647,16838028,16710414,16344560,16297372,16236267,16189514,15953552,15888546,15822942,15527767,15489334,15302935,14702039,12805274,12665801,12477932,12467750,12196661,12176375,12163017,12105844,11493472,11106625,10871039,10807789,10619715,10587521,10216106,9108196,9092943,8889548,8886980,8293480,8167032,8120097,8002995,7956350,7704029,7663526,7590742,3865200,3024106,2869410,2538716,2455687,2161834,1829807,1796905,1286667,8424456,1516138,14743216 7170 NM_001043351,NM_001043352,NM_153649,NM_152263,AL590431,AY271223,CH471121,X79909,X79910,AA863064,AB062125,AF474157,AK026559,AK056889,AK056997,AK092690,AK092712,AK123113,AK123571,AK125367,AL537561,AY004867,BC000771,BC008407,BC008425,BC015403,BC017195,BC050470,BC062740,BC072428,BC073144,BG706843,BI546300,BM674269,BX419658,BX641075,BX648485,CR589996,CR597930,CR617822,CR618509,DA472065,DA894064,M12128,X04201,X04588,AK056921,NM_001043353 NP_001036818,NP_001036816,NP_001036817,NP_705935,NP_689476,CAH71260,CAH71261,CAH71262,CAH71263,CAH71264,CAH71265,CAH71266,CAH71267,CAH71268,CAH71269,CAH71270,EAW53229,EAW53230,EAW53231,EAW53232,EAW53233,EAW53234,EAW53235,EAW53236,EAW53237,BAB93457,AAL84570,BAC03946,BAC03956,AAF87083,AAH00771,AAH08407,AAH08425,AAH15403,AAH62740,AAH72428,CAI46046,AAA36775,CAA27798,CAB37185,P06753,Q2QD06,Q5HYB6,Q5VU58,Q5VU59,Q5VU61,Q5VU64,Q5VU66,Q5VU70,Q5VU71,Q5VU72,Q6LDX7,Q6P5R0,Q8NAG3,Q8NAH0,Q8NI98,Q8TCG3 Hs.535581,Hs.654421,Hs.705387 GDB:127872 FLJ41118|MGC14582|MGC3261|MGC72094|NEM1|OK/SW-cl.5|TM-5|TM3|TM30|TM30nm|TPMsk3|TRK|hscp30 protein-coding 1345461 TPM3L2 tropomyosin 3-like 2 12853948,12213198,3024106 252956 NG_005722,AC106873,AF458661,CH236947 GDB:11510264 pseudo 736665 TPM4 tropomyosin 4 8641132,16130169,17968984,15489334,15456888,14702039,12665801,12477932,11782456,11493472,10934142,3865200,3612796,1286667,16189514 7171 NM_003290,AC008894,CH471106,AF186109,AK023385,BC002827,BC037576,BC067225,BT019634,CR599958,M12127,X05276 NP_003281,EAW84521,EAW84522,EAW84523,EAW84524,AAG17014,BAB14554,AAH02827,AAH37576,AAH67225,AAV38440,AAA36774,CAA28888,P67936,Q5U0D9,Q9UCS4 Hs.631618 GDB:127877 protein-coding 1345455 TPM5P tropomyosin 5, pseudogene 170555 NG_001060,AL034549 GDB:11508052 dJ1125A11.2 pseudo 1350168 TPMT thiopurine S-methyltransferase This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals. A pseudogene for this locus is located on chromosome 18q. 1580863 8316220,18467186,18408566,18385010,18303966,18193212,18188716,18021342,17919375,17909762,17885628,17690215,17617792,17323057,17243178,17241387,17220558,17206640,17176368,17164697,17152495,17129980,17113562,17065060,16952345,16946561,16917910,16876902,16789994,16773681,16724002,16691038,16643135,16611274,16595084,16476125,16459728,16431304,16418693,16396707,16306100,16272700,16214825,16202677,16166171,16164497,16044099,16006997,15973722,15967990,15946151,15931768,15819814,15802809,15792824,15784872,15709212,15691505,15571267,15571264,15489334,15476481,15385838,15349717,15255798,15247157,15226673,15226671,15206995,15167635,15022030,14987117,14985891,14985890,14723818,14656901,14634700,14576848,14574404,14508387,12972954,12949626,12940924,12903038,12880540,12815366,12814450,12777968,12732844,12703994,12563179,12542916,12509611,12492733,12477932,12217596,12176518,12172211,12142782,11927834,11927101,11503013,11422006,11025471,11007234,10751626,10208641,9931346,9931345,9711875,9453052,9336428,9246020,9177237,9103127,8873214,8644731,8561894,8392551,7862671,7628307 7172 U81573,AA746081,AA825975,AF021876,AF021877,BC005339,BC009596,BI598325,S62904,U12387,U81572,NM_000367,AB045146,AF019369,AF035426,AL589723,CH471087,U30518,U81562,U81563,U81564,U81565,U81566,U81567,U81568,U81569,U81570,U81571 AAB71635,AAB71636,AAB80746,AAB80747,AAH05339,AAH09596,AAB27277,AAC50130,P51580,Q9BS45,NP_000358,BAA97037,AAC51865,AAC32289,CAH71233,EAW55393,EAW55394,EAW55395,EAW55396,EAW55397,EAW55398,EAW55399,AAC50368,AAB71625,AAB71626,AAB71627,AAB71628,AAB71629,AAB71630,AAB71631,AAB71632,AAB71633,AAB71634 Hs.444319 GDB:209025 protein-coding 1606372 TPMTP1 thiopurine S-methyltransferase pseudogene 1 7628307 400650 CH471096,U11424,NG_004077,AC037473 EAW62913,AAC50129,Q6I929 pseudo 735786 TPO thyroid peroxidase This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Additional splice variants have been described but their biological natures have not been determined. 1599648,1580863,1300048 1401057,2548579,18041648,18029453,17902201,17845204,17696828,17547680,17468186,17381485,17334650,16959834,16868133,16756464,16684826,16682284,16614712,16478776,16284446,15761037,15745925,15613581,15590661,15562032,15561711,15497454,15317218,15196594,15150267,15062578,14751036,12960013,12938097,12864797,12843174,12820316,12709678,12593722,12501244,12490071,12477932,12459031,12454013,12213873,12135610,11916616,11874711,11415848,11327880,11238503,11061528,10748076,10487692,10468986,10084596,9924196,9814507,9024270,8964831,8196171,8027236,7759120,7550241,3654979,3475693,3453124,3153466,2383265,2308857 1599648 7173 BC095448,J02969,J02970,M17755,M55702,X17358,Y00406,NM_000547,NM_175721,NM_175722,AC105450,AC141930,CH471053,M25715,S46244,AB208960,AF439430,AF533528,AF533529,AF533530,AF533531,AW874082,AY136822,BC063107,NM_175719 AAH63107,AAH95448,AAA61215,AAA61216,AAA61217,AAA61218,AAA61219,CAA35235,CAA68467,P07202,Q16495,Q502Y3,Q53QT2,Q57YV8,Q59GZ9,Q6P534,NP_783650,NP_000538,NP_783652,NP_783653,AAX93261,AAX82037,EAX01087,EAX01088,EAX01089,EAX01090,EAX01091,AAA97517,AAB23676,BAD92197,AAL74416,AAN04471,AAN04472,AAN04473,AAN04474,AAN11302 Hs.467554 GDB:120446 MSA|TPX protein-coding 1603717 TPP1 tripeptidyl peptidase I This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. 10965052,12134079,11054422,10617131,10679303,14609438,8215436,9295267,9989590,15158442,10740217,15317752,17959406,17690061,17081065,16518810,16168594,16091586,15733845,15582991,15489334,15342556,15143070,14736728,11241479,10737126,10477428,10330339,9989235,9653647,9373149,8125298,14702339,12975309,12950156,12754519,12698559,12643545,12488460,12477932,12414822,12376936,12125808,11462245,11339651 1200 AC091564,AF039704,CH471064,CQ834690,AF017456,AI023962,AK222499,AK222538,AY268890,AY358502,NM_000391,BC014863,BP279860,BP287220,CR591640,CR614001 NP_000382,AAC98480,EAW68685,EAW68686,CAH05560,AAB80725,BAD96219,BAD96258,AAQ72732,AAQ88866,ABM82608,ABM85793,AAH14863,O14773,Q53HP2 Hs.523454 CLN2|GIG1|LPIC|MGC21297|TPP I protein-coding 734318 TPP2 tripeptidyl peptidase II This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. 1580863 9974389,18286573,17901116,17343995,16849449,16762321,16344560,15716107,15489334,14702039,12477932,12370345,10691692,8602240,8406500,8396212,7829101,3313395,1840501,1691635,1670990 7174 NM_003291,AL158063,CH471085,AK097678,AK127549,AU132468,BC024905,BC039905,BI492495,M55169,M73047 NP_003282,CAH72178,CAH72179,EAX09059,AAH39905,AAA63263,AAA36760,P29144,Q5VZU8,Q5VZU9,Q5VZV2 Hs.432424 GDB:126864 FLJ40359 tripeptidylpeptidase ii protein-coding 1605400 TPPP tubulin polymerization promoting protein 15590652,18311157,18204489,18028908,18025801,17823288,17693641,17105200,17027006,16879710,16678793,15822905,15564385,15489334,14702039,14623963,12477932,12093283,11781156,10083737,8889548 11076 NM_007030,AC026740,CH471235,AB017016,AI796918,AK054920,AK098392,AW955330,AY319261,BC040496,BC131506,BC152382,BQ066916,BT020035,BU726600,DB478250,DB546894 NP_008961,EAW51015,EAW51016,BAA36164,AAQ96657,AAH40496,AAI31507,AAI52383,AAV38838,O94811,Q4L233 Hs.481466 TPPP/p25|TPPP1|p24|p25|p25alpha protein-coding 1343731 TPPP2 tubulin polymerization-promoting protein family member 2 17105200,15590652,15489334,12477932 122664 NM_173846,AL161668,CH471078,AY072034,AY173946,BC027610,BC038970,BC064583 NP_776245,EAW66421,AAL62338,AAO49716,AAH38970,P59282 Hs.406966 C14orf8|P18|p25beta protein-coding 1604620 TPPP3 tubulin polymerization-promoting protein family member 3 15489334,12477932,12107411,10931946,10810093,17105200,15590652 51673 NM_015964,NM_016140,AC009061,CH471092,AF078846,AF132972,BC000691,BC037798,BI754230,BI772576,BQ640401,CR590764,CR593543,CR594676,CR612698,CR622352,CR626572 NP_057048,NP_057224,EAW83128,EAW83129,EAW83130,EAW83131,AAD44478,AAD27747,AAH00691,AAH37798,Q9BW30 Hs.534458 CGI-38|p20|p25gamma protein-coding 1321699 TPR translocated promoter region (to activated MET oncogene) This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. 1580863 7798308,12228227,17897941,17081983,16964243,15654337,15635413,15302935,15229283,14702039,12802065,12594221,12477932,11952838,11896612,11248057,10708513,9864356,9024684,7851906,3821733,3387099,3277171,1611909,1549355,1532241,1437155,14743216 7175 NM_003292,AF172081,AF181668,AL133553,AL596220,CH471067,M15326,X94207,X94208,AA688415,AK023111,BC016514,BC025177,BC094764,U69668,X63105,X66397,Y00672 NP_003283,CAI13119,EAW91203,EAW91204,EAW91205,EAW91206,CAA63904,AAH16514,AAH25177,AAH94764,AAB48030,CAA44819,CAA47021,CAA68681,P12270,Q15624,Q504U6,Q58F23,Q5SWY0,Q99968,Q9UE33 Hs.279640 GDB:128821 protein-coding 1605237 TPRG1 tumor protein p63 regulated 1 15489334,14702039,12477932 285386 NM_198485,AC104669,AC112909,AK123232,AK125682,BC101550,BC101552 NP_940887,BAC85565,BAC86245,AAI01551,AAI01553,Q6ZUI0 Hs.338851 FAM79B|FLJ41238|FLJ43694|MGC126599|MGC126601 protein-coding 1601827 TPRG1L tumor protein p63 regulated 1-like 17869247,16710414,15489334,14702039,12477932 127262 NM_182752,AL513320,CH471130,AK025409,AK025464,AK096427,AK289919,BC019034,BI547609,BX115868,CR617441 NP_877429,CAI14338,CAI14339,EAW71455,EAW71456,BAF82608,AAH19034,Q5T0D9 Hs.20529 FAM79A|FLJ21811|RP11-46F15.3|h-mover|mover protein-coding 1603050 TPRKB TP53RK binding protein 12659830,14702039,12477932,10810093,16189514 51002 NM_016058,AC092653,CH471053,AF060921,AF151879,AK097254,AK291071,AY157986,AY157987,BC029492 NP_057142,EAW99720,EAW99721,EAW99722,EAW99723,AAG43133,AAD34116,BAF83760,AAN76356,AAN76357,AAH29492,Q9Y3C4 Hs.157401 CGI-121 protein-coding 1604487 TPRX1 tetra-peptide repeat homeobox 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the TPRX homeobox gene family. 17005330,14702039,12477932 284355 NM_198479,AC008745,CH471126,AK097640,BC137501,BC141863 NP_940881,EAW57514,BAC05130,AAI37502,AAI41864,Q8N7U7 Hs.629812 FLJ40321|TPRX protein-coding 1605470 TPRX1P1 tetra-peptide repeat homeobox 1 pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. 503628 NG_004836,AL133481 TPRXP2 pseudo 1605469 TPRX1P2 tetra-peptide repeat homeobox 1 pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. 503629 NG_004837,AC068139 TPRXP3 pseudo 1605471 TPRX2P tetra-peptide repeat homeobox 2 pseudogene Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. 503627 NG_004835,AC008745,AC024582 TPRX2P1|TPRXP1 pseudo 1605803 TPRXL tetra-peptide repeat homeobox-like Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. 14702039,12477932 348825 NR_002223,AC069462,AC090004,AK092426,BC016304,BC027729,BC117319,CR613670 BAC03887,AAI17320,Q17RH7 Hs.638296 FLJ35107 pseudo 735970 TPS1 mast cell protease 6 7176 NM_003293,BC028059,BC051852,M30038 Hs.405479 1605426 TPSAB1 tryptase alpha/beta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. 2187193,2677049,18359288,18079491,17655281,17635650,17449330,17205215,17146627,16517749,16414069,16027150,15638376,15567416,12874242,12742661,12477932,12397176,12391231,12217407,12100045,11906611,11876641,11792624,11568008,11533057,11325588,10898108,10843716,10708866,10708850,10514402,10500112,10391906,9920877,9521329,9485375,9300715,9077541,8675637,8598474,8434231,7730649,7009736,3161948,2203827 7177 BC028059,BC038416,BC051852,BC074975,M30038,M33491,NM_003294,XM_001720740,XM_001720738,NG_005083,AC120498,AF098328,AF099144,M33494,AF206665,AF206666,AF206667 AAH28059,AAH51852,AAH74975,AAA86934,AAA36778,P15157,Q15661,Q6B051,Q86TM8,Q86UA5,NP_003285,XP_001720792,XP_001720790,AAD17846,AAD17860,AAC83172,AAG35695,AAG35696,AAG35697 Hs.405479 MCP7|TPS1|TPS2|TPSB1|alpha II protein-coding 1348891 TPSB2 tryptase beta 2 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. 1580863 9920877,17449330,15567416,15489334,12477932,12217407,11157797,10843716,10708850,10500112,10391906,9521329,8434231,2203827,2187193 64499 NM_024164,NG_005083,AC120498,AE006466,AF099143,AF099145,AF099146,BC029356,BC065923,BC074974,CR541836,M33492,M33493,M37488,S55551 NP_077078,AAK61270,AAK61271,AAD17859,AAD17857,AAD17858,AAH29356,AAH65923,AAH74974,CAG46635,AAA36779,AAA36780,AAA51843,AAD13876,P20231,Q6B052,Q6FHB8,Q6NZY1,Q96RZ6,Q96RZ7 Hs.405479,Hs.592982 GDB:11508054 TPS2|TPSB1|tryptaseC protein-coding 1314139 TPSD1 tryptase delta 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. 1580863 12217407,12100045,16751005,12477932,12391231,11174199,11157797,9920877 23430 NG_005083,AC120498,AE006466,AF098327,AF099147,AF318074,CH471112,AF206664,AF421357,AY055427,BC069143,NM_012217 NP_036349,AAK61272,AAD17845,AAD17861,AAK12909,EAW85680,EAW85681,AAG35694,AAL86695,AAL17874,AAH69143,Q6NTB8,Q9BZJ3 Hs.677789 GDB:11501399 MCP7-LIKE|MCP7L1|MGC95428|MMCP-7L protein-coding 1344751 TPSG1 tryptase gamma 1 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. 1302295,1580863 10521469,12217407,12194977,11157797,10843716 1302295 25823 NM_012467,NG_005083,AC120498,AE006466,AF175759,AF191031,AF195508,AF223563,CH471112,BE552396 NP_036599,AAK61269,AAF03697,AAF76457,AAF76458,AAG48852,EAW85682,Q9NRR2 Hs.592076 GDB:11508056 PRSS31|TMT|trpA protein-coding 1353104 TPSP1 tryptase pseudogene 1 64716 GDB:11508058 1345938 TPSP2 tryptase pseudogene 2 64494 AB038652 GDB:11508060 1353746 TPSP3 tryptase pseudogene 3 64495 GDB:11508062 1318261 TPST1 tyrosylprotein sulfotransferase 1 1580863 9733778,9501187,16859706,15489334,12853948,12690205,12477932,12169668,12056800,12032733,7721887,10497246,10089882,16189514,15060624 8460 CR626238,NM_003596,AC008267,AC026281,AC079855,CH236961,CH471140,AF038009,BC013188,CR542060,CR542080,CR592994,CR610958,CR611624,CR618726 O60507,Q75M96,Q75ML6,ABM84489,ABM85174,NP_003587,AAS02012,AAS07522,EAL23739,EAX07937,EAX07938,AAC13552,AAH13188,CAG46857,CAG46877 Hs.421194 GDB:9955200 protein-coding 1313297 TPST2 tyrosylprotein sulfotransferase 2 The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. 1580863 12056800,11230166,10591208,10497246,10089882,9736702,9733778,11256614,16303743,15489334,15461802,12477932,12169668 8459 AK074538,AK075139,AL136623,NM_003595,AL708491,BC001057,BC017509,CR456597,CR533528,CR590775,CR593537,CR595650,CR595659,CR595821,CR596364,CR596688,CR604203,CR604977,CR606597,CR609089,NM_001008566,CH471095,CQ782485,CQ783200,Z95115,AA531491,AF049891,AF061254,AJ006198,CR610140,CR610531,CR619205,CR626027,CR626067,CR626262 CAB66558,AAH01057,AAH17509,CAG30483,CAG38559,NP_003586,NP_001008566,EAW59726,EAW59727,EAW59728,CAF85772,CAF86406,CAB62950,AAC36061,AAC34296,CAA06906,O60704,CAK54628,CAK54927,ABM84526 Hs.694819 GDB:9955198 protein-coding 735250 TPT1 tumor protein, translationally-controlled 1 1580863 15162379,15958728,16130169,15319436,18042794,17897616,17645945,17549383,16859841,15489334,15383549,15262975,15062873,15057823,14623968,14500674,12948934,12876410,12487227,12477932,12399545,12167714,12149273,11991642,11790298,11598139,11368327,10343127,9150946,9059837,7542803,2813067,1286669,1286667,17353931,14499622,15870695 7178 NM_003295,AJ400717,AL138963,CH471075,AK130847,AY117678,AY334563,BC003352,BC012431,BC022436,BC040008,BC052333,CR457036,CR590628,CR591807,CR596782,CR600220,CR603315,CR606684,CR607344,CR609479,CR615436,CR617312,CR618209,CR619808,CR620037,CR623434,CR624492,CR624864,CR626086,CR626131,L13806,X16064,X64899 NP_003286,CAB87812,CAH72033,CAH72034,CAH72035,EAX08731,EAX08732,EAX08733,EAX08734,EAX08735,AAM51565,AAQ01550,AAH03352,AAH12431,AAH22436,AAH40008,AAH52333,CAG33317,CAA34200,P13693,Q5W0H4,Q86YH5,Q8TBK7 Hs.374596 GDB:134697 FLJ27337|HRF|TCTP|p02 protein-coding 1348535 TPT1P tumor protein, translationally-controlled 1 pseudogene 378809 1347469 TPTE transmembrane phosphatase with tensin homology 1580863 10598804,18074101,15489334,14659893,12477932,11810268,11279206,11030409,10830953,9693027 7179 AF007118,AF495908,AI149736,AI200912,AL833345,AY219886,AY219887,AY219888,BC028719,DB459772,NM_199260,NM_199259,NM_199261,AF254982,AF254983,AL078471,AL163201 CAB90528,AAC34574,AAQ06674,AAP45143,AAP45144,AAP45145,AAH28719,P56180,ABM82137,ABM85320,NP_954869,NP_954868,NP_954870 Hs.122986 GDB:9835136 PTEN2 protein-coding 1314090 TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM] 15057823,14659893,12717346,12477932,11716755 93492 NM_130785,NM_199254,AL359457,AL590076,CH471075,AJ421032,AJ421033,AL079582,AY219890,BC128146,BC128147 NP_570141,NP_954863,CAH73539,EAX08219,EAX08220,EAX08221,EAX08222,EAX08223,EAX08224,EAX08225,CAD13144,CAD13145,AAP45146,AAI28147,AAI28148,Q5VUH1,Q6XPS3 Hs.377488 MGC149231|TPIP protein-coding 1323589 TPX2 TPX2, microtubule-associated, homolog (Xenopus laevis) 1580863 10512675,14580337,9207457,14718566,17716627,17705509,17081983,16964243,16565220,16489064,16287863,15705883,15489334,15302935,14702039,12612055,12477932,12477396,12389033,12177045,12097419,11780052,10871281,10393424 22974 AL160175,CH471077,AB024704,AB027467,AF098158,AF146731,AF244547,AF287265,AK001391,AK093379,AL117534,AY734680,BC004136,BC011357,NM_012112,BC020207,BM835456,BU181208,CB960160,CR593407,CR597329,CR604176,CR626707 NP_036244,CAD38006,CAD38007,EAW76418,EAW76419,EAW76420,EAW76421,EAW76422,BAA76931,BAA85893,AAF03248,AAD33965,AAF81695,AAK83033,CAB55982,AAU29203,AAH04136,AAH11357,AAH20207,Q643R0,Q96FC3,Q96RR5,Q9ULW0 Hs.244580 C20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100 tpx2, microtubule-associated protein homolog (xenopus laevis) protein-coding 1603645 TRA2A transformer-2 alpha This gene is a member of the transformer 2 homolog family and encodes a protein with two RS domains and an RRM (RNA recognition motif) domain. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Several alternatively spliced transcript variants of this gene have been described; however, the full-length nature of some of these variants has not been determined. 9546399,17081983,16964243,16097034,15489334,15324660,14765198,12761501,12477932,9847074,8799144,16189514 29896 NM_013293,AC023105,CH236948,CH471073,AB052759,AB097048,BC017094,BC069011,CR616661,DB445598,U53209 NP_037425,AAQ96870,EAW93788,EAW93789,BAC53792,BAC77401,AAH17094,AAC50658,Q13595,Q549U1,Q8IXF7,ABM83368,ABM86579 Hs.699226 HSU53209 protein-coding 1353259 TRA@ T cell receptor alpha locus 1827423,2703017,11745389,9119227,12429093,11048639,11827988,15489916,17652306,18378792,17785774,17391765,17082594,17023417,17015149,16968899,16548914,16424183,16310048,15494509,12925207,12796775,12477932,12473666,12444131,12039522,11920559,11142503,9110172,8188290,6440030,3875483,3875152,3873654,1303175,16189514,11390434,2546634,1649196,11877480,12530975,9586631,2138083,9485181,8020575,7719941,11566319,15128794 6955 BC070364,BC071738,BC071758,BC100294,BC110354,M12423,X01403,BC070345,AE000658,AE000659,AE000660,AE000661,AE000662,AK026255,BC020840,BC022317,BC031551,BC063385,BC063432,BC070329,BC070337,BC070343,BC070344,NG_001332 AAH70364,AAH71758,AAI00295,AAI10355,AAA60626,CAA25651,P01848,Q2YD82,Q6IPR8,Q6IRV4,Q6NS93,Q6NSA0,Q6NSA1,Q6NSA6,AAB68997,AAB68998,AAB68999,AAB69000,AAB69001,AAB69018,AAB69019,AAB69021,AAB69022,AAB69023,AAB69024,AAB69025,AAB69026,AAB69027,AAB69028,AAB69029,AAB69030,AAB69031,AAB69032,AAB69033,AAB69034,AAB69035,AAB69036,AAB69037,AAB69038,AAB69039,AAB69040,AAH20840,AAH22317,AAH31551,AAH63385,AAH63432,AAH70329,AAH70337,AAH70343,AAH70344,Q6P4G7,Q6P4I7,Q6PIP7,Q6PJ56,Q8WUD0 Hs.74647 GDB:120404 FLJ22602|MGC117436|MGC22624|MGC23964|MGC71411|TCRA|TCRAV17S1|TCRAV19S1|TCRAV1S1|TCRAV1S2|TCRAV21S1|TCRAV22S1|TCRAV24S1|TCRAV25S1|TCRAV26S1|TCRAV26S2|TCRAV27S1|TCRAV2S1|TCRAV30S1|TCRAV34S1|TCRAV35S1|TCRAV38S1|TCRAV39S1|TCRAV3S1|TCRAV40S1|TCRAV41S1|TCRAV4S1|TCRD|TRA|TRDD3|hADV23S1|hADV29S1|hADV36S1|hADV38S2|hDV101S1 protein-coding 1601961 TRABD TraB domain containing 15489334,14702039,12529303,12477932,11214971,10591208 80305 NM_025204,AL022328,CH471138,DQ529300,AF218001,AK024447,AK292050,AL449244,AY203945,BC012445,BC093029,CR590805,CR595125,CR595379,CR602777,CR607528,CR612180,CR612210,CR615428,CR615590,CR620455,CR624670,CR626213 NP_079480,EAW73497,EAW73498,EAW73499,EAW73500,EAW73501,EAW73502,ABF71986,AAG17243,BAB15737,BAF84739,CAC15001,AAP34468,AAH12445,AAH93029,Q5JZ75,Q6XYC5,Q9H4I3,Q9HBQ3 Hs.592213 LP6054|MGC110928|PP2447 protein-coding 1349761 TRAC T cell receptor alpha constant 28755 X02592 GDB:9953797 1350695 TRADD TNFRSF1A-associated via death domain The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. 1580863,2292150 11112773,11032752,10911999,10892748,10848577,10400625,10356400,10187805,9916988,9916731,9714541,9430227,9427646,9356494,8943045,8934525,8702708,8681376,8612133,8565075,15103018,14743216,12796506,15247912,11226577,11112409,18198944,18174230,17922260,17235653,17051333,16611992,16344560,16227624,16006552,15761471,15489334,15310755,14702039,14660619,14585990,12911633,12665801,12604596,12576460,12477932,12446787,12417987,12045187,11435712,7758105,11684708,12761501,14644197,12887920 2292150 8717 NM_003789,AC074143,AJ307882,AJ311614,AJ311615,AJ311616,AY575851,AY995114,CH471092,AK090673,BC004491,BG717460,BQ707739,BT006934,CA426418,DA353575,L41690 NP_003780,CAC38018,AAS68637,AAX89407,EAW83081,AAH04491,AAP35580,AAA98482,Q15628,ABM84345,ABM87737 Hs.460996 GDB:1320395 Hs.89862|MGC11078 protein-coding 1351243 TRAF1 TNF receptor-associated factor 1 The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. 1580863 9162022,10809768,8069916,18434327,18432273,17880261,17827388,17804836,17405906,17235653,16891304,16713569,16304992,15941918,15489334,14981539,14743216,14557256,12709429,12477932,12411322,12089335,11907583,11804591,11728344,11696595,11607847,11384837,11313261,11279055,11278268,11181075,11098060,11035039,10903733,10635328,10411888,10037686,10025951,9852070,9774460,9718306,9705938,9642260,9607925,9488716,9464265,9418902,9384571,9300817,9208847,9168896,9104814,8943059,8943045,8710854,8702708,8692885,8627180,8612133,8565075,7859281,7527023,12887920,8662842,9275204 7185 NM_005658,AC006430,CH471090,AK090468,AL832989,AW014547,BC024145,BT019408,U19261 NP_005649,EAW87479,BAC03449,CAH56343,AAH24145,AAV38215,AAA62309,Q13077,Q658U1 Hs.531251 GDB:6268627 EBI6|MGC:10353 protein-coding 1321367 TRAF2 TNF receptor-associated factor 2 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. 1580863,2292150 11466612,11777919,8702708,15125833,14644197,7758105,12887920,18312353,18230756,18069092,17724081,17626074,17599408,17389591,17379600,16936264,16891304,16713569,16636664,16446357,16311516,16304992,16282325,16260598,16227629,16214042,16189514,16153868,16009713,15944293,15743837,15708970,15670977,15489334,15383523,15310755,15308666,15265700,15208311,14743216,14741690,14702039,14633987,14585990,14557256,12917691,12843613,12842894,12591926,12571250,12547194,12477932,12411493,12411322,12169272,12136106,11971184,11932422,11909853,11907583,11907088,11882293,11805080,11804591,11798190,11784851,11728344,11607847,11435475,11384837,11374864,11359906,11340079,11279055,11278723,11278268,11112773,11064452,11035039,10990461,10903733,10892748,10880535,10809768,10764746,10753917,10650002,10617615,10581243,10523862,10521462,10514511,10490605,10477597,10463949,10411888,10346818,10339433,10206649,10037686,10025951,9852070,9827693,9774977,9774460,9733516,9718306,9712898,9705938,9692890,9607925,9582383,9500555,9488716,9464265,9461607,9418902,9384571,9373149,9353251,9208847,9168896,9162022,9153189,9104814,9020361,8999898,8985011,8943059,8875942,8710854,8692885,8643514,8627180,8612133,8565075,8125298,8069916,7639698,15861135,11821416,12796506,9275204,8662842,15696169,10352240,15258597 2292150 7186 AL355987,AL449425,AY623660,CH471090,AK054686,AK222961,AK289722,BC032410,BC033810,BC043492,BC064662,BM785733,NM_021138,BX538160,CR611225,CR624454 NP_066961,CAI12701,CAI12702,CAI12703,CAI12704,CAI12705,AAT27320,EAW88299,EAW88300,EAW88301,EAW88302,EAW88303,EAW88304,EAW88305,BAB70792,BAF82411,AAH32410,AAH33810,AAH43492,AAH64662,CAD98040,Q12933,Q53GH0,Q5T1L5,Q5T1L6,Q5T1L7,Q5T1L8,Q5T5T6,Q7Z337,ABM84542,ABM85690 Hs.522506 GDB:6268629 MGC:45012|TRAP|TRAP3 protein-coding 1312182 TRAF3 TNF receptor-associated factor 3 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported. 7527023,9162022,10791955,11035039,12005438,15280356,7530216,7533327,10799510,18275617,18042799,17692805,17626074,17608743,17586463,16858409,16582590,16429118,16311516,16306936,16280329,16009714,15708970,15514968,15489334,15383523,15208311,15084608,14743216,14716302,14572659,14517219,12860972,12571250,12477932,12471121,12270937,12220533,12169272,12136149,12089335,11950878,11728344,11607847,11562359,15585864,11384837,11279055,11278268,11261798,10984535,10903733,10862698,10809768,10781837,10764746,10644711,10635328,10557073,10523862,10199393,10037686,10025951,9852070,9794406,9774977,9774460,9718306,9582383,9550380,9488716,9464265,9418902,9388227,9275204,9168896,9122217,8943059,8710854,8663299,8626767,8612133,8565075,7859281,8761950,10196286,8662842,10352240 7187 NM_145725,NM_145726,NM_003300,AL117209,AL132801,CH471061,AF110908,BC075086,BC075087,BX247977,L38509,U15637,U19260,U21092 NP_663777,NP_663778,NP_003291,EAW81795,EAW81796,EAW81797,AAD29276,AAH75086,AAH75087,CAD62311,AAA68195,AAA56753,AAA65732,AAC50112,Q13114 Hs.510528 GDB:9836800 CAP-1|CD40bp|CRAF1|LAP1 protein-coding 1319493 TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1 1580863 12935900,12812986,12477932,10791955 26146 NM_015650,AC012485,CH471063,AF230877,AF242456,AL080153,BC059174 NP_056465,AAX88977,EAW71156,EAW71157,AAF76984,AAL90444,CAB45744,AAH59174,Q8TDR0 Hs.631898 DKFZp434F124|MIP-T3|MIPT3 protein-coding 1312403 TRAF3IP2 TRAF3 interacting protein 2 This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Two alternative transcripts encoding different proteins have been identified. A third transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. 12761501,10962033,18061473,17982039,16189514,15489334,14702039,14574404,12943667,12477932,12459498,12163033,12089335,10962024,10903453,12133833 10758 BC002823,BC026723,BE904103,CR611078,CR615860,AL008730,CH471051,CS135278,Z97989,AF085921,AF136405,AF136406,AF136407,AF272151,AF274303,AK025351,AK026602,AL050289,NM_147686,NM_147200 CAB43390,AAH02823,O43734,Q7Z6Q1,Q7Z6Q2,Q7Z6Q3,CAA15506,CAA15507,CAD92596,CAD92597,CAD92598,EAW48285,EAW48286,EAW48287,EAW48288,CAJ21527,CAI22296,CAI22297,CAI22298,AAF67445,AAF67446,AAF67447,AAG15407,AAG15367,BAB15117,BAB15507,NP_679211,NP_671733 Hs.654708 GDB:9865616 ACT1|C6orf4|C6orf5|C6orf6|CIKS|DKFZP586G0522|MGC3581 protein-coding 1604284 TRAF3IP3 TRAF3 interacting protein 3 17868742,17277885,17203973,16710414,15489334,14702039,14572659,12477932,9373149,8125298 80342 NM_025228,AL022398,CH471100,AK022798,AK092905,AK122792,AK125601,AK126139,AK225762,AL049667,BC110302,BC130417,BX648450,CR603000,CR609673 NP_079504,CAI95687,CAI95688,CAI95689,EAW93441,EAW93442,EAW93443,EAW93444,BAC86461,CAB41242,AAI10303,AAI30418,Q4VY03,Q4VY04,Q4VY05,Q6ZTW8,Q9Y228 Hs.147434 DJ434O14.3|FLJ44151|MGC117354|MGC163289|T3JAM protein-coding 1315478 TRAF4 TNF receptor-associated factor 4 This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. 1580863 7490069,16189514,7592751,16799635,16157600,16052631,15941918,15489334,12801526,12788948,12477932,12354113,12023963,11943846,11607847,11384837,11279055,10514511,9626059,9507120 9618 BC001769,BC026726,BC047358,CR590816,CR602462,CR611319,CR616018,CR990949,X80200,NM_004295,AC010761,CH471159,DQ323999,AF082185,AY937222,AY937223,AY937224 AAH01769,CAA56491,Q2KJU4,Q2KJU5,Q2KJU6,Q9BUZ4,ABM83751,NP_004286,EAW51138,EAW51139,EAW51140,EAW51141,EAW51142,ABC40750,AAC32376,AAY16988,AAY16989,AAY16990,ABM87070 Hs.8375 GDB:9836801 CART1|MLN62|RNF83 protein-coding 1605425 TRAF5 TNF receptor-associated factor 5 The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Alternate transcriptional splice variants have been characterized. 9153189,10075662,10809768,12761501,9511754,17277003,15708970,15489334,14702039,12842894,12477932,12169272,12089335,12000717,11971184,11882293,11607847,11562359,11479302,11384837,11279055,11035039,10908663,10880535,10764746,10523862,10449775,10025951,9990007,9774977,9774460,9718306,9642260,9582383,9488716,9275204,9177772,9162022,9126477,8999898,8943059,8889548,8790348,8663299,15749123,16189514 7188 NM_004619,NM_001033910,NM_145759,AL590101,CH471100,AB000509,AK126502,BC029600,BC032830,BM453281,BU676629,CD709275,CR536557,U69108 NP_004610,NP_001029082,NP_665702,EAW93419,EAW93420,EAW93421,EAW93422,BAA25262,AAH29600,AAH32830,CAG38794,AAC51329,O00463,Q4G123,Q6FHY1 Hs.523930 GDB:5822920 MGC:39780|RNF84 protein-coding 1315706 TRAF6 TNF receptor-associated factor 6 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein mediates the signaling not only from the members of the TNF receptor superfamily, but also from the members of the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. Two alternatively spliced transcript variants encoding identical proteins have been reported. 1580863 17608743,17572386,17377523,17363736,17346928,17135271,16932746,16920630,16635910,16527194,16517750,16484229,16452479,16446357,16436380,16354686,16313339,16286016,16280329,16260598,16251197,16230348,16221674,16196101,16189514,16184196,16153868,16125763,16079148,16052631,15670770,11244088,11397809,11751921,15125833,12761501,9162092,9744859,10066798,10465784,12138165,12609980,18474871,18234474,18093978,18070982,18056395,17982039,17905570,17878161,17724081,15665823,15634933,15591054,15492226,15489334,15456887,15361868,15308666,15280356,15247281,14996708,14754897,14743216,14665433,14661019,14633987,14593105,14550571,14530355,14500659,14500648,12925853,12917691,12874243,12804775,12721283,12714497,12566447,12496252,12477932,12459498,12270937,12193732,12140561,12060722,12048196,11960013,11882293,11847341,11607847,11463333,11418661,11406619,11384837,11279055,11278268,11250893,11057907,11035039,10920205,10908663,10882101,10880535,10764746,10748240,10747026,10635328,10523862,10514511,10411888,10383454,10346818,10094049,10075662,10025951,9928991,9915784,9774977,9774460,9685412,9642260,9432981,9374458,9020361,8837778,17353931,15894263,15327770,15474016,9275204 7189 NM_004620,NM_145803,AC009656,AC061999,AY228337,CH471064,AK292978,BC031052,BI463192,CR590964,CR612801,U78798 NP_004611,NP_665802,AAO38054,EAW68119,EAW68120,EAW68121,EAW68122,BAF85667,AAH31052,AAB38751,Q9Y4K3,ABM82135,ABM85318 Hs.591983 GDB:6268625 MGC:3310|RNF85 protein-coding 1604273 TRAF7 TNF receptor-associated factor 7 Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM] 14743216,15001576,15489334,14702039,12477932,11230166 84231 NM_032271,AC009065,CH471112,AK090624,AL136921,AW245178,AY569455,BC024267,CR595735 NP_115647,EAW85546,EAW85547,EAW85548,EAW85549,CAB66855,AAS68363,AAH24267,Q6Q0C0 Hs.643537 DKFZp586I021|MGC7807|RFWD1|RNF119 protein-coding 1605702 TRAFD1 TRAF-type zinc finger domain containing 1 17081983,16964243,16565220,16221674,15489334,15302935,12477932 10906 NM_006700,AC073575,CH471054,AB007447,AK122620,AK291331,BC003553,CR596482 NP_006691,EAW97995,EAW97996,EAW97997,BAA22541,BAF84020,AAH03553,O14545,ABM83456,ABM86667 Hs.5148 FLN29 protein-coding 1601884 TRAIP TRAF interacting protein This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. 9104814,18200509,15489334,14676304,12477932,9671805,9373149,8125298 10293 NM_005879,AC139451,CH471055,AK225873,AK292172,BC000310,BC019283,BQ446539,BX473682,CR623917,U77845 NP_005870,EAW65025,EAW65026,BAF84861,AAH00310,AAH19283,AAB52993,Q9BWF2 Hs.517972 RNF206|TRIP protein-coding 1354300 TRAJ1 T cell receptor alpha joining 1 28754 X02884 GDB:9953799 1353228 TRAJ10 T cell receptor alpha joining 10 28745 M94081 GDB:9953817 1346678 TRAJ11 T cell receptor alpha joining 11 28744 M94081 GDB:9953819 1347755 TRAJ12 T cell receptor alpha joining 12 28743 X02885 GDB:9953821 1344434 TRAJ13 T cell receptor alpha joining 13 28742 M94081 GDB:9953823 1354201 TRAJ14 T cell receptor alpha joining 14 28741 M94081 GDB:9953825 1350739 TRAJ15 T cell receptor alpha joining 15 28740 X05775 GDB:9953827 1346371 TRAJ16 T cell receptor alpha joining 16 28739 M94081 GDB:9953829 1343115 TRAJ17 T cell receptor alpha joining 17 28738 X05773 GDB:9953831 1350626 TRAJ18 T cell receptor alpha joining 18 28737 M94081 GDB:9953833 1347224 TRAJ19 T cell receptor alpha joining 19 28736 M94081 GDB:9953835 1349316 TRAJ2 T cell receptor alpha joining 2 28753 X02884 GDB:9953801 1350798 TRAJ20 T cell receptor alpha joining 20 28735 M94081 GDB:9953837 1345769 TRAJ21 T cell receptor alpha joining 21 28734 M94081 GDB:9953839 1345240 TRAJ22 T cell receptor alpha joining 22 28733 X02886 GDB:9953841 1353812 TRAJ23 T cell receptor alpha joining 23 28732 M94081 GDB:9953843 1350591 TRAJ24 T cell receptor alpha joining 24 28731 X02887 GDB:9953845 1346970 TRAJ25 T cell receptor alpha joining 25 28730 X02888 GDB:9953847 1351831 TRAJ26 T cell receptor alpha joining 26 28729 M94081 GDB:9953849 1349963 TRAJ27 T cell receptor alpha joining 27 28728 M94081 GDB:9953851 1348080 TRAJ28 T cell receptor alpha joining 28 28727 M94081 GDB:9953853 1344801 TRAJ29 T cell receptor alpha joining 29 28726 X02889 GDB:9953855 1346062 TRAJ3 T cell receptor alpha joining 3 28752 X02884 GDB:9953803 1352053 TRAJ30 T cell receptor alpha joining 30 28725 M94081 GDB:9953857 1345027 TRAJ31 T cell receptor alpha joining 31 28724 M14905 GDB:9953859 1345584 TRAJ32 T cell receptor alpha joining 32 28723 M94081 GDB:9953861 1348703 TRAJ33 T cell receptor alpha joining 33 28722 M94081 GDB:9953863 1352292 TRAJ34 T cell receptor alpha joining 34 28721 M35622 GDB:9953865 1343758 TRAJ35 T cell receptor alpha joining 35 28720 M94081 GDB:9953867 1344339 TRAJ36 T cell receptor alpha joining 36 28719 M94081 GDB:9953869 1347585 TRAJ37 T cell receptor alpha joining 37 28718 M94081 GDB:9953871 1342743 TRAJ38 T cell receptor alpha joining 38 28717 M94081 GDB:9953873 1347806 TRAJ39 T cell receptor alpha joining 39 28716 M94081 GDB:9953875 1347112 TRAJ4 T cell receptor alpha joining 4 28751 M94081 GDB:9953805 1353549 TRAJ40 T cell receptor alpha joining 40 28715 M35620 GDB:9953877 1350204 TRAJ41 T cell receptor alpha joining 41 28714 M94081 GDB:9953879 1342480 TRAJ42 T cell receptor alpha joining 42 28713 M94081 GDB:9953881 1354087 TRAJ43 T cell receptor alpha joining 43 28712 M94081 GDB:9953883 1349328 TRAJ44 T cell receptor alpha joining 44 28711 M35619 GDB:9953885 1345906 TRAJ45 T cell receptor alpha joining 45 28710 M94081 GDB:9953887 1354097 TRAJ46 T cell receptor alpha joining 46 28709 M94081 GDB:9953889 1343104 TRAJ47 T cell receptor alpha joining 47 28708 M94081 GDB:9953891 1348135 TRAJ48 T cell receptor alpha joining 48 28707 M94081 GDB:9953893 1351464 TRAJ49 T cell receptor alpha joining 49 28706 M94081 GDB:9953895 1352953 TRAJ5 T cell receptor alpha joining 5 28750 M94081 GDB:9953807 1348307 TRAJ50 T cell receptor alpha joining 50 28705 M94081 GDB:9953897 1350914 TRAJ51 T cell receptor alpha joining 51 8188290 28704 NG_001332,AE000661,M94081 GDB:9953899 pseudo 1354445 TRAJ52 T cell receptor alpha joining 52 28703 M94081 GDB:9953901 1344737 TRAJ53 T cell receptor alpha joining 53 28702 M94081 GDB:9953903 1345879 TRAJ54 T cell receptor alpha joining 54 28701 M94081 GDB:9953905 1348545 TRAJ55 T cell receptor alpha joining 55 8188290 28700 NG_001332,AE000661,M94081 GDB:9953907 pseudo 1352793 TRAJ56 T cell receptor alpha joining 56 28699 M94081 GDB:9953909 1343823 TRAJ57 T cell receptor alpha joining 57 28698 M94081 GDB:9953911 1351793 TRAJ58 T cell receptor alpha joining 58 28697 M94081 GDB:9953913 1348130 TRAJ59 T cell receptor alpha joining 59 28696 M94081 GDB:9953915 1354023 TRAJ6 T cell receptor alpha joining 6 28749 M16747 GDB:9953809 1344196 TRAJ60 T cell receptor alpha joining 60 8188290 28695 AE000661,NG_001332 GDB:9953917 pseudo 1347382 TRAJ61 T cell receptor alpha joining 61 28694 M94081 GDB:9953919 1350043 TRAJ7 T cell receptor alpha joining 7 28748 M94081 GDB:9953811 1346530 TRAJ8 T cell receptor alpha joining 8 28747 M94081 GDB:9953813 1343301 TRAJ9 T cell receptor alpha joining 9 28746 M94081 GDB:9953815 1604830 TRAK1 trafficking protein, kinesin binding 1 15644324,16630562,16381901,16380713,15851553,15489336,15489334,15231748,14702039,12724313,12477932,12435728,11230166,11076863,10470851 22906 NM_001042646,NM_014965,AC018358,AC093414,CH471055,AB028965,AK000754,AK023962,AL713787,AW157246,BC015922,BF527591,BG285410,BX647199,CD722736,CR594881 NP_001036111,NP_055780,EAW64638,EAW64639,EAW64640,EAW64641,EAW64642,BAA82994,CAH56394,AAH15922,CAH56169,Q0JSP1,Q63HR0,Q659B5,Q9UPV9,CAL37451,CAL38473,ABZ92518 Hs.535711 OIP106 protein-coding 1352646 TRAK2 trafficking protein, kinesin binding 2 1580863 15644324,12034717,16895905,16835241,16630562,16380713,16344560,15489334,14702039,12477932,12435728,12107410,11161814,10964520,9628581 66008 NM_015049,AB038964,AC007256,AC007282,AC080069,CH471063,AB011121,AB038951,AK054763,AL832573,BC017999,BC040668,BC041330,BC048093,CA396280,DA314514,DA414989,DA575492 NP_055864,BAB32550,AAY24227,AAX93196,EAW70271,EAW70272,BAA25475,BAB32501,BAB70803,CAD89935,AAH17999,AAH40668,AAH41330,AAH48093,O60296,Q53RS6,Q53TT7,Q86TA0,Q8IU62 Hs.152774 GDB:11499748 ALS2CR3|CALS-C|GRIF-1|GRIF1|KIAA0549|OIP98 protein-coding 1346981 TRAM1 translocation associated membrane protein 1 1580863 1315422,17081983,16565220,15489334,12721283,12477932,9512475 23471 AC022731,AC120194,CH471068,AF274933,AK289397,AK292777,BC000687,BC020283,BC032018,BC037738,NM_014294,BT007359,CR541654,CR541739,CR596669,CR597404,CR601735,CR608813,X63679 NP_055109,EAW86966,EAW86967,EAW86968,BAF82086,BAF85466,AAH00687,AAH37738,AAP36023,CAG46455,CAG46539,CAA45218,Q15629,Q6FHL3,Q6FHU7,ABM83614,ABM86858 Hs.491988 PNAS-8|TRAM|TRAMP protein-coding 1314990 TRAM1L1 translocation associated membrane protein 1-like 1 737633,1580863 16344560,16303743,14749390,12477932 737633 133022 NM_152402,AC093805,CH471057,AK074617,BC030831,BX423039,CA415689,CR596564,DB099839 NP_689615,EAX06312,BAC11091,AAH30831,Q8N609 Hs.570737 MGC26568 protein-coding 1345669 TRAM2 translocation associated membrane protein 2 TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM] 1580863 16344560,15489334,14749390,14612417,14574404,12477932,10594243,8889549,7698749,7584044 9697 BC028121,NM_012288,AL049611,CH471081,AA044636,AK291751,AU140711,BC016804,BG323472,BG821383,CF264873,CK000467,D31077,D31762,H59725 NP_036420,CAB71119,EAX04373,EAX04374,EAX04375,BAF84440,AAH28121,BAA06540,Q15035,ABM81994,ABM85176 Hs.520182 KIAA0057 protein-coding 1346837 TRAP1 TNF receptor-associated protein 1 1580863 7876093,17853063,16927372,16482509,15489334,15292218,14702039,12477932,11278302,10652318,10545594,9545258,9373149,8756626,8125298 10131 AK223076,AK223205,BC000406,BC001455,BC002994,BC018950,BC023585,CR612283,CR623319,DB452880,U12595,AB209805,AC005203,AC006111,CH471112,AF043254,AF154108,AJ890085,AK057620,AK093344,AK223049,NM_016292 BAD96769,BAD96796,BAD96925,AAH01455,AAH18950,AAH23585,AAA87704,Q12931,Q53FS6,Q53G55,Q59EK6,Q5CAQ4,Q8N9Z3,Q9BV61,BAD93042,ABM84402,ABM87345,NP_057376,AAC24722,EAW85338,EAW85339,EAW85340,EAW85341,EAW85342,AAC02679,AAF15314,CAI64498,BAC04139 Hs.30345 GDB:127923 HSP75|HSP90L protein-coding 1322784 TRAPPC1 trafficking protein particle complex 1 1580863 16828797,15489334,12477932,11805826,10582700 58485 NM_021210,AC104581,AF129332,CH471108,BC025413,BC032717,CR609566,CR612174 NP_067033,AAD44697,EAW90109,EAW90110,EAW90111,AAH32717,Q9Y5R8,ABM81786,ABM84941 Hs.24379 BET5|MUM2 protein-coding 1349534 TRAPPC10 trafficking protein particle complex 10 373177 1350228 TRAPPC2 trafficking protein particle complex 2 The protein encoded by this gene is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene. 15489334,15221797,14702039,14597397,12939648,12919139,12681486,12650905,12579492,12477932,12123495,12030902,11595175,11424925,11349230,11031107,8889548,8733060,8401585,11134351,11805826,10431248,15772651 6399 NM_014563,NM_001011658,AC003037,AF157060,AF157061,AF157062,AF157063,AF157064,AF157065,CH471074,AA351319,AK055671,AK098253,AV763683,BC016915,BC052618,BG033605,BI821518,BM931610,CB962763,CD698535 NP_055378,NP_001011658,AAD49845,EAW98829,EAW98830,EAW98831,EAW98832,EAW98833,EAW98834,AAH16915,AAH52618,O14582,Q6IBE5,ABM82434,ABM85624,ABM85625 Hs.592238 MIP-2A|SEDL|SEDT|TRS20|ZNF547L|hYP38334 protein-coding 1604619 TRAPPC2L trafficking protein particle complex 2-like 16189514,12477932,11042152 51693 NM_016209,AC092384,CH471184,AF089106,AF161524,BC011369,BC017440,BC018024,BC105809,CR602762,CR614080,CR619389,CR626235 NP_057293,EAW66756,AAF00568,AAF29139,AAH11369,AAH17440,AAH18024,AAI05810,Q8TBU3,Q9UL33 Hs.461722 HSPC176|MGC111156 protein-coding 1319308 TRAPPC3 trafficking protein particle complex 3 TRAPPC3 is a component of the TRAPP complex, which is involved in tethering of transport vesicles to the cis-Golgi membrane (Turnbull et al., 2005 [PubMed 15692564]).[supplied by OMIM] 1580863 16908848,16880271,16828797,16262728,16189514,15728249,15692564,15608655,15489334,14702039,12477932,11805826,10698928,9564032,9110174,8619474 27095 NM_014408,AC114484,CH471059,CQ834606,AF041432,AJ224335,AK094755,AY007139,BC007662,CR595065,CR595394,CR610083,CR612867,CR616480,CR621078 O43617,NP_055223,EAX07385,EAX07386,EAX07387,CAH05518,AAB96936,CAA11902,AAG02000,AAH07662 Hs.523131 BET3 protein-coding 1348300 TRAPPC4 trafficking protein particle complex 4 1580863 11018053,15489334,12477932,11805826,11042152,10810093,9373149,8125298 51399 NM_016146,AP003392,CH471065,AF078862,AF105025,AF151862,AF161520,AK025623,AK290520,BC010866,CR591716,CR599720,CR614639,CR616613 NP_057230,EAW67430,AAD44494,AAF21897,AAD34099,AAF29135,BAF83209,AAH10866,Q9Y296 Hs.524078 CGI-104|HSPC172|PTD009|SBDN|SYNBINDIN|TRS23 protein-coding 1344244 TRAPPC5 trafficking protein particle complex 5 1580863 16341674,15489334,12477932,8889548 126003 BU736689,CR622194,NM_001042462,NM_174894,NM_001042461,AC008763,CH471139,AK292001,BC022836,BC042161,BG528980,BI196928,BM841051 Q8IUR0,NP_001035927,NP_777554,NP_001035926,EAW69012,BAF84690,AAH42161 Hs.432413 MGC52424 protein-coding 1601965 TRAPPC6A trafficking protein particle complex 6A TRAPPC6A is a subunit of the TRAPP I and II complexes (Gwynn et al., 2006 [PubMed 16697553]).[supplied by OMIM] 16697553,16262728,16189514,15489334,15057824,12477932 79090 NM_024108,AC005757,CH471126,AF161407,BC001907,BC004450 NP_077013,AAC62259,EAW57326,EAW57327,EAW57328,EAW57329,AAF28967,AAH01907,AAH04450,O75865 Hs.466929 HSPC289|MGC2650|TRS33 protein-coding 1319611 TRAPPC6B trafficking protein particle complex 6B TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM] 16697553,16025134,15489334,14702039,12477932 122553 NM_177452,NM_001079537,AL109628,AL132639,CH471078,AK025437,AK056690,AL833179,BC030604,BC047328,BX161510,BX248013,CR614282 NP_803235,NP_001073005,EAW65821,EAW65822,EAW65823,EAW65824,CAI46185,AAH30604,AAH47328,CAD61947,CAD62341,Q49AS8,Q5JPD6,Q86SZ2 Hs.13303 TPC6 protein-coding 1352017 TRAPPC7 trafficking protein particle complex 7 373174 1346606 TRAPPC8 trafficking protein particle complex 8 373175 1342572 TRAPPC9 trafficking protein particle complex 9 373176 1350612 TRAT1 T cell receptor associated transmembrane adaptor 1 12660731,9687533,11390434,16160011,15489334,12477932,11042152,10723796,10663578,16189514 50852 NM_016388,AC016932,AJ240084,CH471052,AF161547,AJ224878,AJ240085,AK291991,BC025713,BX111605,BX329167,BX415345,CR593848,CR623824 NP_057472,EAW79717,EAW79718,AAF29034,CAA12178,CAB72134,BAF84680,AAH25713,Q6PIZ9,ABM82979,ABM86173 Hs.138701 HSPC062|TCRIM|TRIM t cell receptor interacting molecule protein-coding 1350032 TRAV1-1 T cell receptor alpha variable 1-1 28693 AE000658 GDB:9953921 1353370 TRAV1-2 T cell receptor alpha variable 1-2 28692 AE000658 GDB:9953923 1353552 TRAV10 T cell receptor alpha variable 10 28676 AE000659 GDB:9953955 1345046 TRAV11 T cell receptor alpha variable 11 8188290 28675 NG_001332,AE000659 GDB:9953957 TCRAV11S1 pseudo 1349893 TRAV12-1 T cell receptor alpha variable 12-1 28674 AE000659 GDB:9953959 1352006 TRAV12-2 T cell receptor alpha variable 12-2 28673 AE000659 GDB:9953961 1343077 TRAV12-3 T cell receptor alpha variable 12-3 28672 X06193 GDB:9953963 1348286 TRAV13-1 T cell receptor alpha variable 13-1 28671 AE000659 GDB:9953965 1350924 TRAV13-2 T cell receptor alpha variable 13-2 28670 AE000659 GDB:9953967 1347572 TRAV14DV4 T cell receptor alpha variable 14/delta variable 4 28669 M21626 GDB:9953969 1353574 TRAV15 T cell receptor alpha variable 15 8188290 28668 NG_001332,AE000659 GDB:9953971 TCRAV15S1 pseudo 1345107 TRAV16 T cell receptor alpha variable 16 28667 AE000659 GDB:9953973 1348385 TRAV17 T cell receptor alpha variable 17 28666 AE000660 GDB:9953975 1348530 TRAV18 T cell receptor alpha variable 18 28665 AE000660 GDB:9953977 1351851 TRAV19 T cell receptor alpha variable 19 28664 AE000660 GDB:9953979 1342589 TRAV2 T cell receptor alpha variable 2 28691 AE000658 GDB:9953925 1349078 TRAV20 T cell receptor alpha variable 20 28663 AE000660 GDB:9953981 1345782 TRAV21 T cell receptor alpha variable 21 28662 AE000660 GDB:9953983 1343396 TRAV22 T cell receptor alpha variable 22 28661 AE000660 GDB:9953985 1348363 TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 28660 AE000660 GDB:9953987 1353069 TRAV24 T cell receptor alpha variable 24 28659 AE000660 GDB:9953989 1349708 TRAV25 T cell receptor alpha variable 25 28658 AE000660 GDB:9953991 1349637 TRAV26-1 T cell receptor alpha variable 26-1 28657 AE000660 GDB:9953993 1344253 TRAV26-2 T cell receptor alpha variable 26-2 28656 AE000660 GDB:9953995 1344382 TRAV27 T cell receptor alpha variable 27 28655 AE000660 GDB:9953997 1351669 TRAV28 T cell receptor alpha variable 28 8188290 28654 NG_001332,AE000660 GDB:9953999 TCRAV28S1 pseudo 1346761 TRAV29DV5 T cell receptor alpha variable 29/delta variable 5 28653 AE000660 GDB:9954001 1351724 TRAV3 T cell receptor alpha variable 3 28690 AE000658 GDB:9953927 1353427 TRAV30 T cell receptor alpha variable 30 28652 AE000660 GDB:9954003 1346852 TRAV31 T cell receptor alpha variable 31 8188290 28651 NG_001332,AE000660 GDB:9954005 TCRAV31S1 pseudo 1344861 TRAV32 T cell receptor alpha variable 32 8188290 28650 AE000660,NG_001332 GDB:9954007 TCRAV32S1 pseudo 1347318 TRAV33 T cell receptor alpha variable 33 8188290 28649 NG_001332,AE000660 GDB:9954009 C14orf12|TCRAV33S1 pseudo 1348642 TRAV34 T cell receptor alpha variable 34 28648 AE000660 GDB:9954011 1354276 TRAV35 T cell receptor alpha variable 35 28647 AE000660 GDB:9954013 1353711 TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 28646 AE000660 GDB:9954015 1348655 TRAV37 T cell receptor alpha variable 37 8188290 28645 NG_001332,AE000661 GDB:9954017 TCRAV37S1 pseudo 1351446 TRAV38-1 T cell receptor alpha variable 38-1 28644 AE000661 GDB:9954019 1348109 TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 28643 AE000661 GDB:9954021 1343518 TRAV39 T cell receptor alpha variable 39 28642 AE000661 GDB:9954023 1349042 TRAV4 T cell receptor alpha variable 4 28689 AE000658 GDB:9953929 1351178 TRAV40 T cell receptor alpha variable 40 28641 X73521 GDB:9954025 1353137 TRAV41 T cell receptor alpha variable 41 28640 AE000661 GDB:9954027 1347845 TRAV5 T cell receptor alpha variable 5 28688 AE000659 GDB:9953931 1347077 TRAV6 T cell receptor alpha variable 6 6956 Z49060 GDB:451966 1344609 TRAV7 T cell receptor alpha variable 7 28686 AE000659 GDB:9953935 1351213 TRAV8-1 T cell receptor alpha variable 8-1 28685 AE000659 GDB:9953937 1342558 TRAV8-2 T cell receptor alpha variable 8-2 28684 AE000659 GDB:9953939 1344365 TRAV8-3 T cell receptor alpha variable 8-3 28683 AE000659 GDB:9953941 1354098 TRAV8-4 T cell receptor alpha variable 8-4 28682 AE000659 GDB:9953943 1346443 TRAV8-5 T cell receptor alpha variable 8-5 8188290 28681 NG_001332,AE000659 GDB:9953945 TCRAV8S5|TRAV85 pseudo 1343960 TRAV8-6 T cell receptor alpha variable 8-6 28680 X02850 GDB:9953947 1351670 TRAV8-7 T cell receptor alpha variable 8-7 28679 AE000660 GDB:9953949 1347687 TRAV9-1 T cell receptor alpha variable 9-1 28678 AE000659 GDB:9953951 1345192 TRAV9-2 T cell receptor alpha variable 9-2 28677 AE000659 GDB:9953953 735360 TRB@ T cell receptor beta locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abnormalities involving the T-cell receptor beta locus have been associated with T-cell lymphomas. 16709841,16673021,16424183,16310048,15905344,15708895,15613535,2426193,11048639,11827988,15489916,17652306,18378792,18279372,18275829,17785774,17693403,17622942,17560605,17023417,16968899,16741518,16709873,11862389,11862388,11841483,11142503,11096259,8650574,8550092,6334238,6334237,3983641,3860845,3011602,2144610,1588277,15476487,15138733,14687707,14621425,12925207,12635936,12594835,12552422,12472659,12366778,12100034,12039522,11920559 6957 NG_001333,U66059,U66060,U66061 P04435 GDB:120405 TCRB|TRB t-cell receptor beta chain protein-coding 1349889 TRBC1 T cell receptor beta constant 1 1580863 28639 P01850 M12887 GDB:9954029 1346475 TRBC2 T cell receptor beta constant 2 28638 M12888 GDB:9954031 1348197 TRBD1 T cell receptor beta diversity 1 28637 X00936 GDB:9954033 1350149 TRBD2 T cell receptor beta diversity 2 28636 X02987 GDB:9954035 1346311 TRBJ1-1 T cell receptor beta joining 1-1 28635 X00936 GDB:9954037 1343799 TRBJ1-2 T cell receptor beta joining 1-2 28634 X00936 GDB:9954039 1351714 TRBJ1-3 T cell receptor beta joining 1-3 28633 M14158 GDB:9954041 1348227 TRBJ1-4 T cell receptor beta joining 1-4 28632 M14158 GDB:9954043 1344842 TRBJ1-5 T cell receptor beta joining 1-5 28631 M14158 GDB:9954045 1353430 TRBJ1-6 T cell receptor beta joining 1-6 28630 M14158 GDB:9954047 1343386 TRBJ2-1 T cell receptor beta joining 2-1 28629 X02987 GDB:9954049 1346351 TRBJ2-2 T cell receptor beta joining 2-2 28628 X02987 GDB:9954051 1607040 TRBJ2-2P T cell receptor beta joining 2-2P 8650574,2997718 28627 NG_001333,U66061 GDB:9954053 TRBJ22P pseudo 1354024 TRBJ2-3 T cell receptor beta joining 2-3 28626 X02987 GDB:9954055 1345344 TRBJ2-4 T cell receptor beta joining 2-4 28625 X02987 GDB:9954057 1346887 TRBJ2-5 T cell receptor beta joining 2-5 28624 X02987 GDB:9954059 1350678 TRBJ2-6 T cell receptor beta joining 2-6 28623 X02987 GDB:9954061 1352331 TRBJ2-7 T cell receptor beta joining 2-7 28622 M14159 GDB:9954063 1607041 TRBV1 T cell receptor beta variable 1 8650574 28621 NG_001333,U66059 GDB:9954065 TCRBV1S1P|TCRBV27S1P pseudo 1344661 TRBV10-1 T cell receptor beta variable 10-1 28585 U17050 GDB:9954137 1347361 TRBV10-2 T cell receptor beta variable 10-2 28584 U17049 GDB:9954139 1350021 TRBV10-3 T cell receptor beta variable 10-3 28583 U03115 GDB:9954141 1349685 TRBV11-1 T cell receptor beta variable 11-1 28582 M33233 GDB:9954143 1345732 TRBV11-2 T cell receptor beta variable 11-2 28581 L36092 GDB:9954145 1343194 TRBV11-3 T cell receptor beta variable 11-3 28580 M33234 GDB:9954147 1347554 TRBV12-1 T cell receptor beta variable 12-1 8650574,3772297 28579 NG_001333,U66059,X07224 GDB:9954149 TCRBV12S1|TCRBV8S4P|TRBV121 pseudo 1350320 TRBV12-2 T cell receptor beta variable 12-2 8650574,3772297 28578 NG_001333,U66059,X06936 GDB:9954151 TCRBV12S2|TCRBV8S5P|TRBV122 pseudo 1349383 TRBV12-3 T cell receptor beta variable 12-3 28577 X07192 GDB:9954153 1346638 TRBV12-4 T cell receptor beta variable 12-4 28576 K02546 GDB:9954155 1347155 TRBV12-5 T cell receptor beta variable 12-5 28575 X07223 GDB:9954157 1343831 TRBV13 T cell receptor beta variable 13 28574 U03115 GDB:9954159 1352697 TRBV14 T cell receptor beta variable 14 28573 X06154 GDB:9954161 1349099 TRBV15 T cell receptor beta variable 15 28572 U03115 GDB:9954163 1345822 TRBV16 T cell receptor beta variable 16 28571 L26231 GDB:9954165 1353117 TRBV17 T cell receptor beta variable 17 28570 U03115 GDB:9954167 1351334 TRBV18 T cell receptor beta variable 18 28569 L36092 GDB:9954169 1349212 TRBV19 T cell receptor beta variable 19 28568 U48260 GDB:9954171 1348874 TRBV2 T cell receptor beta variable 2 28620 L36092 GDB:9954067 1354433 TRBV20-1 T cell receptor beta variable 20-1 28567 M11955 GDB:9954173 1349124 TRBV20OR9-2 T cell receptor beta variable 20/OR9-2 8384723 6962 NG_001337,AF029308,AL139008,L05149 CAH69868 GDB:439080 TCRBV20S2|TCRBV2O|TCRBV2S2O pseudo 1351520 TRBV21-1 T cell receptor beta variable 21-1 14702039,12477932,8650574 28566 NG_001333,L27608,L48728,U66060 AAA51029,AAB59582,AAB59583 GDB:9954175 TCRBV10S1P|TCRBV21S1|TRBV211 pseudo 1345444 TRBV21OR9-2 T cell receptor beta variable 21/OR9-2 8384723 6959 NG_001337,AF029308,AL139008,L05151 CAH69869 GDB:439076 TCRBV10O|TCRBV10S2O|TCRBV21S2 pseudo 1603650 TRBV22 T cell receptor beta variable 22 8650574 28565 NG_001333,U66061 GDB:9954177 TCRBV22S1|TCRBV29S1P pseudo 1342627 TRBV22OR9-2 T cell receptor beta variable 22/OR9-2 8384723 246283 NG_001337,AF029308,AL139008 GDB:11505409 TCRBV22S2|TCRBV29S2O pseudo 1603651 TRBV23-1 T cell receptor beta variable 23-1 8650574 28564 NG_001333,U66061 GDB:9954179 TCRBV19S1P|TCRBV23S1|TRBV231 pseudo 1344272 TRBV23OR9-2 T cell receptor beta variable 23/OR9-2 8384723 28552 NG_001337,AF029308,AL139008,L27615 CAH69871,AAA36721 GDB:9954203 TCRBV19S2O|TCRBV23S2|TRBV23OR92 pseudo 1343306 TRBV24-1 T cell receptor beta variable 24-1 28563 M11951 GDB:9954181 1351381 TRBV24OR9-2 T cell receptor beta variable 24/OR9-2 8384723 6961 NG_001337,AF029308,AL139008,L05153 GDB:439079 TCRBV15O|TCRBV15S2O|TCRBV24S2 pseudo 1347072 TRBV25-1 T cell receptor beta variable 25-1 28562 L27610 GDB:9954183 1344379 TRBV25OR9-2 T cell receptor beta variable 25/OR9-2 8384723 6960 NG_001337,AF029308,AL356489,L05152 CAC88180 GDB:439078 TCRBV11O|TCRBV11S2O|TCRBV25S2 pseudo 1603652 TRBV26 T cell receptor beta variable 26 8650574 28561 NG_001333,U66061 GDB:9954185 TCRBV26S1|TCRBV28S1P pseudo 1350872 TRBV26OR9-2 T cell receptor beta variable 26/OR9-2 8384723 246285 NG_001337,AF029308,AL356489 GDB:11505410 TCRBV26S2|TCRBV28S2|TCRBV28S2O pseudo 1343790 TRBV27 T cell receptor beta variable 27 28560 L36092 GDB:9954187 1352321 TRBV28 T cell receptor beta variable 28 28559 U08314 GDB:9954189 1354430 TRBV29-1 T cell receptor beta variable 29-1 28558 L36092 GDB:9954191 1342897 TRBV29OR9-2 T cell receptor beta variable 29/OR9-2 8384723 6958 NG_001337,AF029308,AL358573,L05150 GDB:141931 TCRBV29S2|TCRBV4O|TCRBV4S2O pseudo 1345889 TRBV3-1 T cell receptor beta variable 3-1 28619 U07977 GDB:9954069 1607042 TRBV3-2 T cell receptor beta variable 3-2 8650574 28618 NG_001333,U66059 GDB:9954071 TCRBV3S2|TCRBV9S2A2PT|TRBV32 pseudo 1343540 TRBV30 T cell receptor beta variable 30 28557 L36092 GDB:9954193 1348099 TRBV4-1 T cell receptor beta variable 4-1 28617 U07977 GDB:9954073 1347808 TRBV4-2 T cell receptor beta variable 4-2 28616 U07975 GDB:9954075 1349019 TRBV4-3 T cell receptor beta variable 4-3 28615 U07978 GDB:9954077 1349941 TRBV5-1 T cell receptor beta variable 5-1 28614 L36092 GDB:9954079 1607043 TRBV5-2 T cell receptor beta variable 5-2 12707368,8650574 28613 NG_001333,U66059 GDB:9954081 TCRBV31S1|TCRBV5S2P|TRBV52 pseudo 1353738 TRBV5-3 T cell receptor beta variable 5-3 8650574,1660526 28612 NG_001333,U66059,X61439 CAA43679 GDB:9954083 TCRBV5S3|TCRBV5S5P|TRBV53 pseudo 1345174 TRBV5-4 T cell receptor beta variable 5-4 28611 L36092 GDB:9954085 1346977 TRBV5-5 T cell receptor beta variable 5-5 28610 L36092 GDB:9954087 1350198 TRBV5-6 T cell receptor beta variable 5-6 28609 L36092 GDB:9954089 1350279 TRBV5-7 T cell receptor beta variable 5-7 28608 L36092 GDB:9954091 1353713 TRBV5-8 T cell receptor beta variable 5-8 28607 L36092 GDB:9954093 1345448 TRBV6-1 T cell receptor beta variable 6-1 28606 X61446 GDB:9954095 1347964 TRBV6-2 T cell receptor beta variable 6-2 28605 X61445 GDB:9954097 1350235 TRBV6-3 T cell receptor beta variable 6-3 28604 U07978 GDB:9954099 1343979 TRBV6-4 T cell receptor beta variable 6-4 28603 X61653 GDB:9954101 1346660 TRBV6-5 T cell receptor beta variable 6-5 28602 L36092 GDB:9954103 1349277 TRBV6-6 T cell receptor beta variable 6-6 28601 L36092 GDB:9954105 1351484 TRBV6-7 T cell receptor beta variable 6-7 28600 L36092 GDB:9954107 1345245 TRBV6-8 T cell receptor beta variable 6-8 28599 L36092 GDB:9954109 1347958 TRBV6-9 T cell receptor beta variable 6-9 28598 X61447 GDB:9954111 1345893 TRBV7-1 T cell receptor beta variable 7-1 8650574,8381389,1660526,1404388 28597 NG_001333,U66059,X61444 CAA43684 GDB:9954113 TCRBV6S7P|TCRBV7S1|TRBV71 pseudo 1349523 TRBV7-2 T cell receptor beta variable 7-2 28596 X61442 GDB:9954115 1352779 TRBV7-3 T cell receptor beta variable 7-3 28595 X61440 GDB:9954117 1346866 TRBV7-4 T cell receptor beta variable 7-4 28594 L36092 GDB:9954119 1603647 TRBV7-5 T cell receptor beta variable 7-5 8650574 28593 NG_001333,U66060 GDB:9954121 TCRBV6S9P|TCRBV7S5|TRBV75 pseudo 1351136 TRBV7-6 T cell receptor beta variable 7-6 28592 L36092 GDB:9954123 1354335 TRBV7-7 T cell receptor beta variable 7-7 28591 L36092 GDB:9954125 1342684 TRBV7-8 T cell receptor beta variable 7-8 28590 M11953 GDB:9954127 1343500 TRBV7-9 T cell receptor beta variable 7-9 28589 L36092 GDB:9954129 1603648 TRBV8-1 T cell receptor beta variable 8-1 8650574 28588 NG_001333,U66059 GDB:9954131 TCRBV30S1P|TCRBV8S1P|TRBV81 pseudo 1603649 TRBV8-2 T cell receptor beta variable 8-2 8650574 28587 NG_001333,U66059 GDB:9954133 TCRBV32S1P|TRBV82 pseudo 1347924 TRBV9 T cell receptor beta variable 9 28586 L36092 GDB:9954135 1603653 TRBVA T cell receptor beta variable A 8650574 28556 NG_001333,U66061 GDB:9954195 TCRBV33S1 pseudo 1347997 TRBVAOR9-2 T cell receptor beta variable A/OR9-2 8384723 246286 NG_001337,AF029308,AL356489 GDB:11505411 TCRBV33S2|TRBVA/OR9-2 pseudo 1603654 TRBVB T cell receptor beta variable B 8650574 28555 NG_001333,U66061 GDB:9954197 TCRBV34S1 pseudo 1342663 TRBVOR9@ T cell receptor beta variable orphans on chromosome 9 8384723 6963 GDB:251643 1343197 TRC tRNA cysteine 7183 GDB:287748 1352440 TRD tRNA aspartic acid 7192 GDB:287747 1353545 TRD@ T cell receptor delta locus 17015149,16548914,16424183,16307908,16081821,14734745,14656882,13679813,12918704,12847212,12707047,12088111,11714808,8386664,8340374,3499667,2965024,2825032,2521355,2521243,2456576,2439914,2546634,2547833,12614349,2528071 6964 NG_001332,AE000661,AF512436,AF512438,AF512442,AJ583013,AM408120,AM408122,AM408129,AY312956,AY312957,AY312958,AY312959,AY357942,M18414,M21624,X06557,X13951,X14545,X14546,X72501,X73617,Y00736 AAM51786,AAM51788,AAM51792,CAE47525,CAL59666,CAL59668,CAL59675,AAQ91816,AAQ91817,AAQ91818,AAQ91819,AAQ57272,AAA61102,AAA61125,CAA29800,CAA32133,CAA32681,CAA32682,CAA51166 Hs.74647,Hs.540121,Hs.707797 GDB:120406 TCRD|TCRDV1|TRD protein-coding 1348389 TRDC T cell receptor delta constant 28526 M22148 GDB:9954211 1352762 TRDD1 T cell receptor delta diversity 1 28525 M23325 GDB:9954213 1348450 TRDD2 T cell receptor delta diversity 2 28524 M22153 GDB:9954215 1348569 TRDD3 T cell receptor delta diversity 3 28523 M22152 GDB:9954217 1349238 TRDJ1 T cell receptor delta joining 1 28522 M20289 GDB:9954219 1345756 TRDJ2 T cell receptor delta joining 2 28521 L36386 GDB:9954221 1352909 TRDJ3 T cell receptor delta joining 3 28520 M21508 GDB:9954223 1348491 TRDJ4 T cell receptor delta joining 4 28519 GDB:9953677 1606039 TRDMT1 tRNA aspartic acid methyltransferase 1 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a protein with similarity to DNA methyltransferases, but this protein does not display methyltransferase activity. The protein strongly binds DNA, suggesting that it may mark specific sequences in the genome. Alternative splicing results in multiple transcript variants encoding different isoforms. 9425235,17533396,16424344,16173030,16169070,15164054,15721400,14702039,12794065,12477932,11551826,11139614,9763678,9599025,9592134 1787 NM_176083,NM_004412,AC067747,AL133415,CH471072,EF444974,AF012128,NM_176081,AF329940,AF329941,AF329942,AF329943,AF329944,AJ223333,AK021659,AK291417,BC047733,BX537961,AF045888,CR450316,CR604140 NP_788270,NP_788271,NP_004403,CAB87964,CAI39482,CAI39483,CAI39484,EAW86217,EAW86218,EAW86219,ACA05981,ACA05982,ACA05983,ACA05984,ACA05986,ACA05987,AAC51939,AAC39764,AAK68034,AAK68035,AAK68036,AAK68037,AAK68033,CAA11272,BAF84106,AAH47733,CAD97925,CAG29312,O14717,Q5JVT2,Q5JVT3,Q5JVT4,Q6ICS7,Q7Z3E4,Q86WW6 Hs.351665 GDB:9836671 DNMT2|M.HsaIIP|PuMet|RNMT1 protein-coding 735791 TRDN triadin 1580863 7588753,11026130,18025088,17526652,17081983,14638677,12659871,12480542,12477932,11707337,11504710,11113462,11069905,10748065,10531621,10212196,9890886,9287354,7721813 10345 CH471051,AJ489257,AK291867,BC012590,BC029393,BC054863,BC057222,BC070290,BC139910,CR749591,U18985,NM_006073,AL133257,AL357352,AL445259,AL603902,AL603911 CAI14448,EAW48157,CAD33526,BAF84556,AAH29393,AAH57222,AAH70290,AAI39911,CAH18390,AAA75315,Q05C44,Q13061,Q5JS60,Q5JS61,Q5VT80,Q68D40,Q6NSB8,Q6PG49,Q8IVK2,NP_006064,CAI19636,CAI16757,CAI41045,CAI41046,CAI41047,CAI41048 Hs.654601 GDB:697176 DKFZp779I2253|MGC88285|TDN|TRISK|TRISK51 protein-coding 1352101 TRDV1 T cell receptor delta variable 1 28518 M22198 GDB:9953671 1343000 TRDV2 T cell receptor delta variable 2 28517 X15207 GDB:9953287 1348439 TRDV3 T cell receptor delta variable 3 28516 M23326 GDB:9953273 736593 TREH trehalase (brush-border membrane glycoprotein) This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. 1580863 8773341,9427547,14702039,12477932,9373149,8125298,4737205,2619709 11181 NM_007180,AP002954,CH471065,AB000824,AK091981,AK223140,AK223143,BC109206 NP_009111,EAW67408,EAW67409,BAA24381,BAD96860,BAD96863,AAI09207,O43280,Q32MB9,Q53FY8 Hs.129712 GDB:9958953 MGC129621|TRE|TREA trehalase protein-coding 1319823 TREM1 triggering receptor expressed on myeloid cells 1 Monocyte/macrophage- and neutrophil-mediated inflammatory responses can be stimulated through a variety of receptors, including G protein-linked 7-transmembrane receptors (e.g., FPR1; MIM 136537), Fc receptors (see MIM 146790), CD14 (MIM 158120) and Toll-like receptors (e.g., TLR4; MIM 603030), and cytokine receptors (e.g., IFNGR1; MIM 107470). Engagement of these receptors can also prime myeloid cells to respond to other stimuli. Myeloid cells express receptors belonging to the Ig superfamily, such as TREM1, or to the C-type lectin superfamily. Depending on their transmembrane and cytoplasmic sequence structure, these receptors have either activating (e.g., KIR2DS1; MIM 604952) or inhibitory functions (e.g., KIR2DL1; MIM 604936).[supplied by OMIM] 1580863 10799849,17452516,18396215,18317529,18008257,17785845,17729416,17659879,17634956,17558349,17505044,17336301,17277102,17202378,17008237,16733861,16437719,15585833,15489334,15351648,15309732,15067076,14656437,14574404,12792857,12646648,12645956,12477932,11922939,11323674,9373149,8125298 54210 AL391903,NM_018643,CH471081,DQ217941,AF196329,AF287008,AK223264,AK292162,AY074783,BC017773 NP_061113,CAI19864,EAX04043,EAX04044,ABB01010,AAF71694,AAF90197,BAD96984,BAF84851,AAL74018,AAH17773,Q38L15,Q9NP99,ABM82935,ABM86124 Hs.283022 GDB:10797980 TREM-1 protein-coding 1320401 TREM2 triggering receptor expressed on myeloid cells 2 Monocyte/macrophage- and neutrophil-mediated inflammatory responses can be stimulated through a variety of receptors, including G protein-linked 7-transmembrane receptors (e.g., FPR1; MIM 136537), Fc receptors (see MIM 146790), CD14 (MIM 158120) and Toll-like receptors (e.g., TLR4; MIM 603030), and cytokine receptors (e.g., IFNGR1; MIM 107470). Engagement of these receptors can also prime myeloid cells to respond to other stimuli. Myeloid cells express receptors belonging to the Ig superfamily, such as TREM2, or to the C-type lectin superfamily. Depending on their transmembrane and cytoplasmic sequence structure, these receptors have either activating (e.g., KIR2DS1; MIM 604952) or inhibitory functions (e.g., KIR2DL1; MIM 604936).[supplied by OMIM] 10799849,16505336,15966270,15489334,12925681,12913093,12754369,12645956,12477932,12080485 54209 NM_018965,AL133404,CH471081,DQ217932,AB062787,AF213457,BC018284,BC032362 NP_061838,CAI19911,CAI19912,EAX04032,EAX04033,EAX04034,ABB01002,BAB78736,AAF69824,AAH32362,Q5TCX0,Q5TCX1,Q5XKI8,Q9NZC2,ABM82236,ABM85420 Hs.435295 GDB:10797982 TREM-2|Trem2a|Trem2b|Trem2c protein-coding 1344660 TREML1 triggering receptor expressed on myeloid cells-like 1 TREML1 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties. TREML1 enhances calcium signaling in an SHP2 (PTPN11; MIM 176876)-dependent manner (Allcock et al., 2003 [PubMed 12645956]; Barrow et al., 2004 [PubMed 15128762]).[supplied by OMIM] 12645956,12466851,17549298,16505478,15489334,15128762,15100151,14574404,12975309,12665801,12477932,12393607 340205 NM_178174,AL133404,CH471081,AF508193,AF534822,AF534823,AY358357,BC100944,BC100945,BC100946 NP_835468,CAI19913,EAX04029,EAX04030,EAX04031,AAO37827,AAO15020,AAO15021,AAQ88723,AAI00945,AAI00946,AAI00947,Q86YW5 Hs.117331 GLTL1825|MGC119173|PRO3438|TLT-1|TLT1|dJ238O23.3 protein-coding 1353340 TREML2 triggering receptor expressed on myeloid cells-like 2 TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM] 16670310,14702039,14574404,12975309,12645956 79865 NM_024807,AL133404,AL391903,CH471081,AF534824,AK023755,AY358171,BC125078,BC125079 NP_079083,CAI19909,CAI19858,EAX04035,EAX04036,AAO15022,BAB14668,AAQ88538,AAI25079,AAI25080,Q08AP8,Q08AP9,Q5T2D2 Hs.164797 C6orf76|FLJ13693|MGC149715|MGC149716|TLT2|dJ238O23.1 protein-coding 1351289 TREML2P triggering receptor expressed on myeloid cells-like 2 pseudogene 12645956 221438 NR_002794,AL391903,AF534827 Hs.639392 TLT5 pseudo 1351303 TREML3 triggering receptor expressed on myeloid cells-like 3 TREML3 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM] 12645956 340206 XM_929970,XM_001717580,XM_941488,AL391903,AF534825 XP_935063,XP_001717632,XP_946581,AAO15023,Q8IWX9 Hs.93698 TLT3 protein-coding 1347933 TREML4 triggering receptor expressed on myeloid cells-like 4 14702039,12975309,12645956,12477932 285852 NM_198153,AL391903,CH471081,AF534826,AK090633,AY358271,BC101780,BC105101 NP_937796,EAX04038,AAQ88638,AAI01781,AAI05102,Q6UXN2 Hs.434181 MGC126829|TLT4 protein-coding 1316196 TRERF1 transcriptional regulating factor 1 This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. 1580863 11349124,17015480,15899840,15302935,15072559,14702039,14574404,12530663,12101186,9259413 55809 NM_033502,AL096814,AL138735,AL450325,CH471081,CS300664,AF297872,AJ277275,AJ277276,AK002096,AK127493,AM404182,AM404183,AM404259 CAD92526,NP_277037,CAD92527,CAD92528,EAX04088,EAX04089,EAX04090,EAX04091,EAX04092,EAX04093,CAK32328,AAL01653,CAB88206,CAB88207,BAA92082,CAL49296,CAL49297,CAL49295,Q05GC6,Q05GC8,Q96PN7,AAI56204 Hs.485392 BCAR2|HSA277276|RAPA|RP1-139D8.5|TReP-132|dJ139D8.5 protein-coding 1349335 TRESMCR TRE oncogene, Smith Magenis syndrome chromosome region 10615134 27169 GDB:10795969 1323748 TREX1 three prime repair exonuclease 1 This gene encodes the major 3'->5' DNA exonuclease in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene. 1580482,1580863 10393201,16713580,10391904,11278605,18092167,18045533,17660820,17660818,17440703,17357087,17355961,17293595,17224176,17081983,16845398,16818237,16344560,16189514,15489334,14702039,12624136,12477932,10827106,9851434,8592332,8206943,3239950,15798197 1580482 11277 NM_016381,NM_033629,AC104448,AF483777,CH471055,AF151105,AJ243797,AL137745,BC019863,BC023630,BQ933154,BT020052,BT020053,CR457119,DA364183,DA850044 NP_057465,NP_338599,AAL82504,EAW64883,AAD48774,CAB50866,AAH23630,AAV38855,AAV38856,CAG33400,Q5TZT0,Q6IAN5,Q9NSU2,AAI60084 Hs.707026,Hs.709630 GDB:9957628 AGS1|AGS5|CRV|DKFZp434J0310|DRN3|HERNS protein-coding 1354135 TREX2 three prime repair exonuclease 2 This gene encodes a protein with 3' exonuclease activity. Enzymes with this activity are involved in DNA replication, repair, and recombination. Similarity to an E. coli protein suggests that this enzyme may be a subunit of DNA polymerase III, which does not have intrinsic exonuclease activity. 10391904,18092167,17426129,16395595,16381901,16189514,15661738,15581481,15489336,15489334,12806015,12500544,12477932,11988770,11279105,11278605,11256614,11163772,11076863,9099879 11219 NM_080701,DQ145722,AF151107,AW296654,DQ650792 AAI57022,ABM82688,NP_542432,AAZ38719,AAD48776,ABG43103,Q06S70,Q6ZUX9,Q9BQ50,Q9UFH9,CAL38035,AAI56245 Hs.644635 GDB:9957443 protein-coding 1354437 TRG3 tRNA glycine (UCC) 3 1457046 7197 GDB:136383 1351037 TRG4 tRNA glycine 4 64717 GDB:11508064 736899 TRG@ T cell receptor gamma locus T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. 3458221,16424183,16307908,15905344,15052681,12918704,12707047,12477932,12088111,11833498,11459064,10430935,3102973,2969332,2961609,2961573,2949984,2879283,2527426,2526744,1655357,12865322 6965 NG_001336,AC006033,AC007245,AF159056,CH236951,AJ583012,AJ583014 CAE47524,CAE47526,P03986 Hs.534032 GDB:120407 TCRG|TRG t-cell receptor gamma chain protein-coding 1350195 TRGC1 T cell receptor gamma constant 1 6966 M14996 GDB:120408 1351505 TRGC2 T cell receptor gamma constant 2 6967 M15002 GDB:120409 1347668 TRGJ1 T cell receptor gamma joining 1 6968 M12960 GDB:120410 1344507 TRGJ2 T cell receptor gamma joining 2 6969 M12961 GDB:120411 1349831 TRGJP T cell receptor gamma joining P 6970 M12950 GDB:120412 1345520 TRGJP1 T cell receptor gamma joining P1 6971 X08084 GDB:120413 1342936 TRGJP2 T cell receptor gamma joining P2 6972 M16016 GDB:120414 1352083 TRGP1 tRNA glycine (GCC) pseudogene 1 2613239 7199 GDB:120451 1348804 TRGV1 T cell receptor gamma variable 1 2969332,2938743,2527426 6973 NG_001336,AC007245,AF159056,CH236951,M12949 GDB:120415 TCRGV1|V1S1P pseudo 1344233 TRGV10 T cell receptor gamma variable 10 2969332,2527426 6984 NG_001336,AC006033,AF159056,CH236951,X07206 CAA30182 GDB:120416 TCRGV10|V3P pseudo 1348271 TRGV11 T cell receptor gamma variable 11 2969758,2969332,2527426 6985 NG_001336,AC006033,AF159056,CH236951,Y11227 CAA72108,Q99601 GDB:120417 TCRGV11|V4P pseudo 1353564 TRGV2 T cell receptor gamma variable 2 6974 M13429 GDB:120418 1344243 TRGV3 T cell receptor gamma variable 3 6976 M13430 GDB:120419 1343924 TRGV4 T cell receptor gamma variable 4 6977 X15272 GDB:120420 1352683 TRGV5 T cell receptor gamma variable 5 6978 M36286 GDB:120421 1346206 TRGV5P T cell receptor gamma variable 5P 2969332,2938743,2527426 6979 NG_001336,AC006033,AF159056,CH236951,M13431 GDB:120422 TCRGV5P|V1S5P pseudo 1350547 TRGV6 T cell receptor gamma variable 6 2969332,2938743,2527426 6980 AF159056,CH236951,M13432,NG_001336,AC006033 GDB:120423 TCRGV6|V1S6P pseudo 1347990 TRGV7 T cell receptor gamma variable 7 12477932,2969332,2938743,2527426 6981 NG_001336,AC006033,AF159056,CH236951,M13433,BC027954 Hs.534032 GDB:120424 TCRGV7|V1S7P pseudo 1344955 TRGV8 T cell receptor gamma variable 8 6982 M13434 GDB:120425 1354410 TRGV9 T cell receptor gamma variable 9 1580863 6983 Q99603 X07205 GDB:120426 1351637 TRGVA T cell receptor gamma variable A 2969332,2527426 6986 NG_001336,AC006033,AF159056,CH236951,X07208 GDB:120427 TCRGVA|V5P pseudo 1348803 TRGVB T cell receptor gamma variable B 2969332,2527426 6987 NG_001336,AC006033,AF159056,CH236951,X07209 GDB:120428 TCRGVB|V6P pseudo 69154 TRH thyrotropin-releasing hormone 1600406,1600414,1580863 2126343,17137217,15489334,15328193,15117874,14764629,12477932,12473660,12270926,12067454,11914577,10702693,9794253,8196193,7816190,7647472,7501234,1904138,1900134 1600406,1600414 7200 NM_007117,AC083906,CH471052,M63580,M63581,M63582,BC069375,BC074888,BC074889,BC110515,BC110516 NP_009048,EAW79229,AAA36480,AAH69375,AAH74888,AAH74889,AAI10516,AAI10517,P20396 Hs.182231 GDB:128072 MGC125964|MGC125965 protein-coding 730936 TRHDE thyrotropin-releasing hormone degrading enzyme Thyrotropin-releasing hormone (TRH; MIM 275120) acts as a stimulator of hormone secretion from adenohypophyseal cells, and its signals are inactivated by TRH-degrading ectoenzyme.[supplied by OMIM] 10491199,12975309,12477932,10662590 29953 NM_013381,AC016256,AC078921,AC087886,AC133480,CH471054,AF126372,AK026034,AY358765,BC023230,BC142706,BC150181 NP_037513,EAW97281,AAF13141,AAQ89125,AAI42707,AAI50182,Q9UKU6 Hs.199814 FLJ22381|PAP-II|PGPEP2|TRH-DE protein-coding 737056 TRHR thyrotropin-releasing hormone receptor 1580863,1580744 8395824,16020481,15489334,15117874,14599121,12805411,12477932,12393857,12023974,11278883,9886052,9794253,9141550,8770906,8703031,8396925,8243797,8128317,8005602,7918619,7501234 1580744 7201 NM_003301,A41809,AC104945,AJ011701,CH471060,D85376,S75283,AY493373,BC105045,BC113360,D16845,X72089,X75071 NP_003292,CAA02627,CAA09746,EAW91923,BAA12796,AAB32222,AAR84356,AAI05046,AAI13361,BAA04120,CAA50979,CAA52965,P34981 Hs.3022 GDB:228955 MGC141920 thyrotropin releasing hormone receptor protein-coding 1351110 TRI tRNA isoleucine 7202 GDB:287749 1602327 TRIAP1 TP53 regulated inhibitor of apoptosis 1 15735665,15735003,16541075,15489334,12477932,11042152 51499 NM_016399,AL021546,CH471054,AF161481,BC002638,BC055313,CB141335,CR598391,CR624560,U75688 NP_057483,CAA16495,EAW98192,AAF29096,AAH02638,AAH55313,AAR00584,O43715,ABM84017,ABM87362 Hs.69499 HSPC132|P53CSV|WF-1 protein-coding 1354037 TRIB1 tribbles homolog 1 (Drosophila) 1580863 15299019,17452330,17724128,18193044,18193043,16715410,16595688,15489334,14702039,12736262,12477932,10727209,9342215 10221 NM_025195,AC091114,CH471060,AF205437,AF250310,AJ000480,AK001319,AK022787,AL832388,BC012441,BC063292,CR608019 NP_079471,EAW92085,AAG35663,AAK58174,CAA04119,CAI46181,AAH63292,Q96RU8 Hs.444947 C8FW|GIG2|SKIP1 protein-coding 1351441 TRIB2 tribbles homolog 2 (Drosophila) 737633,1580863 17545167,17097562,16715410,16713569,15950723,15815621,15489334,15299019,15146197,12736262,12477932,8889548 737633 28951 NM_021643,AC009486,CH471053,AK129973,AY245544,BC002637,BQ188880,CN293921,CR591249,CR614490,CR626569,D87119,DC379987 NP_067675,AAY15015,EAX00907,EAX00908,EAX00909,AAO89231,AAH02637,BAA13250,Q92519 Hs.467751,Hs.696139 C5FW|GS3955|TRB2 protein-coding 1345491 TRIB3 tribbles homolog 3 (Drosophila) The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. 1580863 12743605,15299019,18276110,17872950,17707795,17369260,17112672,16966378,16887816,16715410,16169070,16129579,16123373,15781252,15775988,15489334,14702039,13679039,12791994,12736262,12477932,11780052,9373149,8125298 57761 NM_021158,AL034548,CH471133,AF250311,AJ697936,AK026945,AK222837,AY247738,BC019363,BC027484,BG828172,CR457366,CR609787 NP_066981,CAB81634,CAQ08006,EAX10678,AAK58175,CAG27047,BAB15597,BAD96557,AAP04407,AAH19363,AAH27484,CAG33647,Q96RU7 Hs.516826 C20orf97|NIPK|SINK|SKIP3|TRB3 protein-coding 1353087 TRICY1 trichilemmal cyst 1 94014 GDB:10796838 1349784 TRIM10 tripartite motif-containing 10 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. 1580863 16702430,12477932,11331580,11006080,10207104,9271628,8304341 10107 NM_006778,NM_052828,AB088089,AB103595,AB202085,AL669914,AL671859,AL844220,AP000517,BX005441,BX927221,CH471081,CR753815,CR759838,CR788282,Y07829,AF220122,AF220123,AL360163,AL360164,BC093926,BC113419,L19497 NP_006769,NP_439893,BAC54921,BAF31256,BAE78605,CAI18187,CAI18188,CAI17586,CAI17587,CAI18609,CAI18610,BAB63332,CAM26237,CAM26238,CAQ10308,CAQ10309,EAX03268,EAX03269,EAX03270,CAP58479,CAP58480,CAQ11091,CAQ11092,CAQ07456,CAQ07457,CAB52384,AAG53495,AAG53496,AAH93926,AAI13420,AAA72392,Q29863,Q5SRJ5,Q5SRK8,Q9UDY6 Hs.274295 GDB:9955230 HERF1|MGC141979|RFB30|RNF9 protein-coding 1313482 TRIM11 tripartite motif-containing 11 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. 1580863 16098226,18275850,16904669,15489334,14702039,12670303,12477932,11331580,16189514 81559 NM_145214,AL670729,CH471098,AF220125,AF327056,AK074866,AK097825,AK226119,AL360165,BC011629,BC069227,CR606885 NP_660215,CAH71671,CAH71672,EAW69871,AAG53498,AAM63957,BAC11254,AAH11629,AAH69227,Q96F44,ABZ92544 Hs.13543 GDB:11508837 BIA1|RNF92 protein-coding 1316901 TRIM13 tripartite motif-containing 13 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. 1580863 14499696,12477932,11331580,11264177,11161783,12761501,9599022,17314412,16499869,15489334,15188451,15057823,14702039 10206 BC029514,BC055420,BC063407,BI668033,CR592295,CR593916,CR603616,CR612306,NM_001007278,NM_052811,NM_005798,AF241849,AF279660,AL137060,AL391993,CH471075,AF220127,AF220128,AF241850,AJ224819,AK001806,AK056841,AL360196,AL832695,AY191002,AY455758,AY764035,BC003579,NM_213590 AAH03579,AAH63407,O60858,Q5UBW0,Q5W0U8,Q5W0U9,ABM83496,ABM86711,NP_998755,NP_001007279,NP_434698,NP_005789,AAK51624,AAK13059,CAC43391,CAH72825,CAH72826,EAX08844,EAX08845,EAX08846,EAX08847,EAX08848,AAG53500,AAG53501,AAF91315,CAA12136,CAD38633,AAO38979,AAR31110,AAV51406 Hs.436922 GDB:9955681 CAR|DLEU5|LEU5|RFP2|RNF77 protein-coding 1323013 TRIM14 tripartite motif-containing 14 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies and its function has not been determined. Four alternatively spliced transcript variants for this gene have been described. 11331580,15489334,15164053,14702039,12477932,8590280 9830 NM_014788,NM_033219,NM_033221,AL137073,CH471105,AF220130,AF220131,AK055833,AK097480,AK292825,BC006333,NM_033220,CR594155,CR598301,D50919 NP_150089,NP_055603,NP_150088,NP_150090,CAI13890,CAI13891,EAW58870,EAW58871,EAW58872,EAW58873,EAW58874,EAW58875,EAW58876,EAW58877,EAW58878,AAG53503,AAG53504,BAC05071,BAF85514,AAH06333,BAA09478,Q14142,Q548W9,Q5TBQ8,Q5TBQ9,Q6ZWL7,ABM84219,ABM87622 Hs.575631 GDB:9784823 KIAA0129 protein-coding 1322537 TRIM15 tripartite motif-containing 15 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 10207104,16702430,15489334,15342556,12477932,11331580,8812418,8304341 89870 AF220132,AF220133,AI739162,AK290280,AK291853,BC038585,BP270476,U34249,NM_033229,AB088089,AB103595,AB202085,AL669914,AL671855,AL671859,AL844220,AL845450,AP000517,BX927221,CH471081,CR388382,CR788282 CAQ07458,AAG53505,AAG53506,BAF82969,BAF84542,AAH38585,AAD03787,Q0EFD1,Q5SRK9,Q5SRL0,Q9C019,NP_150232,BAC54922,BAF31257,BAE78606,CAI18189,CAI18237,CAI18238,CAI17588,CAI18611,CAI17703,BAB63331,CAQ10310,EAX03271,CAQ08628 Hs.591789,Hs.606488 GDB:11508066 RNF93|ZNF178|ZNFB7 protein-coding 1348776 TRIM16 tripartite motif-containing 16 This gene was identified as an estrogen and anti-estrogen regulated gene in epithelial cells stably expressing estrogen receptor. The protein encoded by this gene contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. The proteins of this family have been reported to be involved in a variety of biological processes including cell growth, differentiation and pathogenesis. Expression of this gene was detected in most tissues. Its function, however, has not yet been determined. 1580863 9817599,16636064,16575408,15489334,15302935,14702039,12477932,11919186,11331580 10626 NM_006470,AC005324,CH878675,AF096870,AK002035,AK056026,BC001564,BC015674,BC053514,BC067096,CR457136 NP_006461,EAW50853,AAC79080,AAH01564,AAH53514,AAH67096,CAG33417,O95361,Q6IAL8,ABZ92466 Hs.123534 GDB:9958052 EBBP protein-coding 1606449 TRIM16L tripartite motif-containing 16-like 15489334,12477932 147166 NM_001037330,AC107982,BC127827,BC128591,BC146902,BC146907,CR594025,DQ232882 NP_001032407,AAI27828,AAI28592,AAI46903,AAI46908,ABB18375,Q309B1 Hs.164324 TRIM70 protein-coding 736909 TRIM17 tripartite motif-containing 17 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. 68839,1580863 10894938,9792805,16189514,15489334,14702039,12477932,11331580 68839 51127 NM_016102,NM_001024940,NM_001024941,AL139288,AL670729,CH471098,AF156271,AK055426,BC023999,BC033788,BI825739,BM563820 NP_057186,NP_001020111,NP_001020112,CAI23334,CAH71674,EAW69872,EAW69873,EAW69874,EAW69875,EAW69876,AAH33788,Q5VST8,Q9Y577,AAD40286 Hs.121748 GDB:10450278 RBCC|RNF16|terf tripartite motif protein 17 protein-coding 1322189 TRIM2 tripartite motif-containing 2 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. Its function has not been identified. 1580863 11331580,16189514,15489334,12477932,11432975,9628581 23321 NM_015271,AC013477,AC114791,CH471056,AB011089,AF220018,AK000179,AL110178,AL110234,BC005016,BC011052,BC019242,BC025417 NP_056086,EAX04960,EAX04961,EAX04962,EAX04963,BAA25443,AAG53472,CAB53687,AAH05016,AAH11052,Q9C040 Hs.435711 GDB:11502014 KIAA0517|RNF86 protein-coding 1345175 TRIM21 tripartite motif-containing 21 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. 7832745,18420815,18361920,18272178,17552056,17400754,17118455,16906225,16880511,16775307,16670339,16630135,16472766,16403452,16356190,16316627,16297862,16200587,16189514,16095123,15916807,15489334,15342556,15324660,12646630,12477932,12127959,11461834,11331580,11263778,11251884,10785401,10022600,9933563,9373149,8882420,8625517,8125298,8094596,7713506,7561701,2450143,1985112,1985094,1610705,16828831 6737 NM_003141,AC009758,AF391283,CH471064,U01882,U13657,U13658,AK225564,AW575137,AY742713,BC010861,BP280435,BP288941,BU594670,M34551,M62800 NP_003132,AAK76432,EAW68845,AAB87094,AAA79867,AAU89982,AAH10861,AAA36581,AAA36651,P19474,Q5XPV5,ABZ92235 Hs.532357 RNF81|RO52|SSA|SSA1 protein-coding 1347688 TRIM22 tripartite motif-containing 22 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the cytoplasm and its expression is induced by interferon. The protein down-regulates transcription from the HIV-1 LTR promoter region, suggesting that function of this protein may be to mediate interferon's antiviral effects. 1580863 7797467,17970695,17567994,16926043,16713569,15489334,15203218,15064739,12539042,12477932,11331580,11096452,8661041 10346 NM_006074,AC109341,CH471064,AK290434,AL360134,AL360187,AL360190,AM040752,BC022281,BC035582,CD621768,CR593076,X82200 NP_006065,EAW68767,EAW68768,EAW68769,EAW68770,BAF83123,CAJ13842,AAH22281,AAH35582,CAA57684,Q05CQ0,Q4A1P5,Q8IYM9,ABM82127,ABM85310 Hs.501778,Hs.684559 GDB:605574 GPSTAF50|RNF94|STAF50 protein-coding 1606340 TRIM23 tripartite motif-containing 23 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. 8700863,8473324,15684077,9671726,16189514,15489334,12477932,11331580,10982851,10748148,9446556,9312116 373 NM_001656,NM_033227,NM_033228,AC008560,CH471137,AF230397,AF230398,AF230399,AI679928,AK292814,BC022510,BI859501,L04510 NP_001647,NP_150230,NP_150231,EAW51349,EAW51350,EAW51351,AAG50176,AAG50177,AAG50178,BAF85503,AAH22510,AAA35940,P36406,ABM84572,ABM86510 Hs.792 ARD1|ARFD1|RNF46 protein-coding 1350727 TRIM24 tripartite motif-containing 24 The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 9115274,17287283,17081983,16643855,12690205,12684500,12677068,12477932,12096914,11986951,11851396,11518808,11331580,11313457,10935545,10610177,10598587,10562550,10439047,10318760,10022127,9632676,9191165,9016654,9774463 8805 NM_015905,NM_003852,AC008265,AC013429,CH236950,CH471070,CQ783904,AA844662,AF009353,AF119042,AK075306,AK127592,AL360186,BC028689,CB988362,CR600475 NP_056989,NP_003843,EAL24046,EAL24047,EAW83884,EAW83885,EAW83886,CAF86917,AAB63585,AAD17258,BAC87048,AAH28689,O15164,Q6ZSA6 Hs.490287 GDB:9957272 PTC6|RNF82|TF1A|TIF1|TIF1A|TIF1ALPHA|hTIF1 protein-coding 1343933 TRIM25 tripartite motif-containing 25 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. 1580863 8248217,17418098,17069755,16271083,16144914,15592455,15489334,15130519,12943693,12477932,12075357,10781795,9245730,8889548,7789997,16189514,11331580 7706 NM_005082,AC015912,CH471109,AB208994,AK024597,BC013752,BC016924,BC038247,BC042541,BC053605,BC106889,BC106890,BC114339,BM146967,BX538220,CF121587,CR600776,CR617665,D21205 NP_005073,EAW94523,EAW94524,EAW94525,BAD92231,AAH16924,AAH42541,BAA04747,Q14258,Q59GW5 Hs.528952 EFP|RNF147|Z147|ZNF147 protein-coding 1346405 TRIM26 tripartite motif-containing 26 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. 1580863 8530076,17713163,15489334,14702039,12477932,11331580,9624122 7726 NM_003449,AB088090,AB103596,AB202086,AL662782,AL662832,AL671855,AL844220,AL845450,BA000025,BX248419,BX927221,CH471081,CR388382,CR759838,CR788282,AK096996,BC021115,BC024039,BX927189,BC032297,CB988131 NP_003440,BAC54923,BAF31258,BAE78607,CAI17497,CAI18235,CAI18614,CAI18615,CAI17701,BAB63330,CAM26023,CAQ09452,CAQ09454,CAQ10305,EAX03272,EAX03273,EAX03274,EAX03275,EAX03276,CAQ08631,CAQ11096,CAQ07461,AAH24039,AAH32297,Q12899,Q5SPU2,Q5SRL2,Q5STF6 Hs.485041 GDB:595487 AFP|RNF95|ZNF173 protein-coding 1348872 TRIM26P tripartite motif-containing 26 pseudogene 10557312 404024 AB023053 pseudo 1320820 TRIM27 tripartite motif-containing 27 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. 1580863 11331580,10504338,9923704,9247190,8114113,3037315,1437549,3380101,9570750,15837424,3078962,2734021,10976108,16713569,16393995,16189514,16186106,15489334,14574404,14530259,12807881,12787916,12477932,12445133 5987 NM_006510,AF171101,AL662859,AL662871,BX000360,BX005144,BX119924,BX537153,CH471081,CR759942,Z84474,AB209885,AF230393,AF230394,AJ420519,BC013580,BC066924,CR617544,J03407 NP_006501,AAF32265,CAI17553,CAI18381,CAI18618,CAI18619,CAM25871,CAM25872,EAX03176,EAX03177,CAQ07942,CAQ07943,BAD93122,AAG50172,AAG50173,AAH13580,AAH66924,AAA36564,P14373,Q59EC6,Q5RJA8,Q9NZT8,ABM81908,ABM85082 Hs.440382 GDB:511359 RFP|RNF76 ret finger protein protein-coding 736265 TRIM28 tripartite motif-containing 28 The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. 1580863 10330177,17353931,8769649,18381204,18060868,17942393,17704056,17542650,17512541,17178852,17081983,17079232,16964243,16954381,16792528,16169070,16107876,15882967,15635413,15596820,15489334,15302935,12684500,12682018,12477932,12438698,12154074,11959841,11711437,11336697,11331592,11331580,11230151,11226167,11154279,11013263,10938122,10748030,10562550,10347202,9774463,9742105,9373149,9016654,8986806,8125298,12411497 10155 NM_005762,AC016630,CH471135,AK131063,AK225760,AL360114,AL360188,AL360189,BC004978,BC007390,BC052986,CR613705,U31657,U78773,U95040,X97548 NP_005753,EAW72605,EAW72606,EAW72607,AAH04978,AAH07390,AAH52986,AAA74954,AAB37341,AAB51517,CAA66150,Q13263 Hs.467408 GDB:9955318 FLJ29029|KAP1|RNF96|TF1B|TIF1B tripartite motif protein 28 protein-coding 1317296 TRIM29 tripartite motif-containing 29 The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. 1580863 16189514,8188213,17448597,16964243,16890201,15489334,15231748,14702039,12477932,11331580,10719033,9373149,8647648,8406440,8125298,7836856,7644499,7530755,1609804 23650 NM_012101,AP000679,AP001360,CH471065,AF230388,AF230389,AK093404,AK122720,AK223090,BC010644,BC017352,CR591524,CR609266,CR612298,L24203 NP_036233,EAW67497,EAW67498,EAW67499,EAW67500,AAG50167,AAG50168,BAD96810,AAH10644,AAH17352,AAA35762,Q0P6H7,Q14134,Q53G41,ABZ92472 Hs.504115 GDB:11508068 ATDC|FLJ36085 protein-coding 731725 TRIM3 tripartite motif-containing 3 The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. 68906,1580863 11513855,11170753,10673389,10391919,17081983,15772161,14702039,12477932,11331580 68906 10612 NM_033278,NM_006458,AC084337,CH471064,AF045239,AF220020,AF220021,AF220022,AK122682,AK126685,AK291396,AL122053,AL360185,AL360192,BC096827,BI916995,BU500178 NP_150594,NP_006449,EAW68709,EAW68710,EAW68711,EAW68712,EAW68713,EAW68714,EAW68715,EAW68716,EAW68717,AAC24809,AAG53474,AAG53475,AAG53476,BAC86643,BAF84085,AAH96827,O75382,Q4V9L4,Q6ZTE7 Hs.591992 GDB:9958015 BERP|FLJ16135|HAC1|RNF22|RNF97 tripartite motif protein 3 protein-coding 1318479 TRIM31 tripartite motif-containing 31 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to both the cytoplasm and the nucleus. Its function has not been identified. 1580863 14574404,12477932,11331580,9373149,8490624,8125298,16189514,16702430,16341674,15489334,14759258 11074 NM_007028,AB202083,AL669914,AL671859,BX005441,BX322644,BX897730,CH471081,CR759801,CR759838,CT009552,AF230386,AF230387,AK222729,AK290270,BC016866,BC017017,BM847963,BT006675,CB142265,CB147821,X81006,Y07828 NP_008959,BAE78603,CAI18183,CAI17583,CAM26234,CAI18447,CAM26290,EAX03257,EAX03258,EAX03259,EAX03260,EAX03261,EAX03262,EAX03263,CAQ06842,CAQ11088,CAQ10627,AAG50165,AAG50166,BAD96449,BAF82959,AAH16866,AAH17017,AAP35321,CAA69165,Q2L6J1,Q5SS27,Q9BZY9,ABM85542 Hs.493275 GDB:9956408 C6orf13|HCG1|HCGI|RNF protein-coding 1313150 TRIM32 tripartite motif-containing 32 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. 1624127,1624129,1580863 16713569,7778269,16816390,16606853,16189514,15786463,15489334,15164053,12477932,11822024,11331580,9634523,15778465,17994549 1624127,1624129 22954 CH471090,BC003154,BI544919,BX091494,CR597365,CR605953,CR610656,DN991209,U18543,AL133284,NM_012210,NM_001099679 CAB92723,CAI16372,EAW87446,EAW87447,AAH03154,AAA86474,Q13049,Q5JVY0,ABM84007,ABM87341,NP_036342,NP_001093149 Hs.591910 GDB:9957765 BBS11|HT2A|LGMD2H|TATIP protein-coding 1316478 TRIM33 tripartite motif-containing 33 The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. 1580863 10022127,16751102,16710414,15146197,14702039,12096914,11331580,10470851,10439047,14527417,15820681 51592 AF119043,AF220136,AF220137,AJ132948,NM_033020,NM_015906,AL035410,AL390241,CH471122,AB029036,AK021491,AK023434,AK057487,AL080216,CN267696 AAD17259,AAG53509,AAG53510,NP_148980,NP_056990,EAW56599,EAW56600,EAW56601,BAA83065,CAB55313,BAB13834,Q9HAL0,Q9UPN9 Hs.26837 GDB:9954720 FLJ32925|PTC7|RFG7|TF1G|TIF1G|TIF1GAMMA|TIFGAMMA protein-coding 1322062 TRIM34 tripartite motif-containing 34 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Expression of this gene is up-regulated by interferon. This gene is mappped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternate splicing of this gene generates four transcript variants. Additionally, a read-through transcript transcribed from this gene and TRIM6 has been observed. 16344560,14702039,11331580,11013086,17156811,16828831,16775307 53840 NM_001003827,NM_021616,NM_130389,NM_130390,AC015691,CH471064,AB039902,AB039904,AF220143,AF220144,AK027876,AL583914,BM989990,DA847894 NP_001003827,NP_067629,NP_569073,NP_569074,EAW68778,EAW68779,EAW68780,BAB17049,BAB17051,AAG53516,AAG53517,BAB55424,CAC29498,Q9BYJ4,AAI56771 Hs.125300 GDB:10796421 IFP1|RNF21 protein-coding 1344257 TRIM35 tripartite motif-containing 35 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. 1580863 15489334,14662771,12692137,12477932,11331580,10470851 23087 AF492463,BC018337,BC069226,NM_171982,AC124649,CH471080,AB029021 AAO85480,AAH18337,AAH69226,Q9UPQ4,ABZ92310,NP_741983,EAW63557,EAW63558,EAW63559,EAW63560,BAA83050 Hs.104223 GDB:9954749 HLS5|KIAA1098|MAIR|MGC17233 protein-coding 1318648 TRIM36 tripartite motif-containing 36 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. 1580863 15955891,15145053,12477932,11331580 55521 Q0P5Z9,Q4R1Q4,Q6ZUQ9,Q9NQ86 NM_018700,AB196558,AI142389,AJ272269,AK058179,AK125426,BC017346,BC045164,BC046096,BC130334,BF592910,NM_001017397,NM_001017398,AC008494,AC094104,CH471086 BAD99605,CAB94831,BAC86160,AAH45164,AAH46096,AAI30335,Q0P5Z9,Q4R1Q4,Q6ZUQ9,Q9NQ86,NP_061170,NP_001017397,NP_001017398,EAW48971,EAW48972 Hs.519514,Hs.638953 GDB:11508070 HAPRIN|RBCC728|RNF98 protein-coding 1318066 TRIM37 tripartite motif-containing 37 This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. Alternatively spliced transcript variants encoding the same protein have been identified. 1599667,1580863 16189514,17551331,17100991,17081983,16713569,16310976,16306379,15885686,15489334,15108285,14702039,12754710,12477932,11938494,11578880,11331580,11279055,10888877,10048485,9106536 1599667 4591 NM_001005207,NM_015294,AC005207,AC036154,AC099850,AC100832,CH471109,AB020705,AF213365,AK022701,AK025648,AK289674,AK292459,BC036012,BG722700,BQ447834,BX537955,CR606792,CR621658 NP_001005207,NP_056109,EAW94424,EAW94425,EAW94426,EAW94427,BAA74921,AAL36460,BAF82363,BAF85148,AAH36012,CAD97922,O94972 Hs.579079 GDB:636050 KIAA0898|MUL|POB1|TEF3 protein-coding 1349740 TRIM38 tripartite motif-containing 38 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. 1580863 12761501,15489334,12477932,11854271,11331580,9149941 10475 NM_006355,CH471087,U91328,AB209906,BC026930,BX640949,CR607808,CR936707,U90547 NP_006346,EAW55501,EAW55502,EAW55503,EAW55504,EAW55505,EAW55506,AAB82084,BAD93143,AAH26930,CAE45973,AAB53425,O00635,Q59EA5,Q6MZQ5,ABM85844,ABW03748 Hs.584851 GDB:9957104 MGC8946|RNF15|RORET protein-coding 1345253 TRIM39 tripartite motif-containing 39 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. 1580863 16189514,17601797,16094384,15489334,12477932,11331580,11006080 56658 NM_172016,AB110937,AB110938,AB202089,AL662795,AL662832,AL773535,BX248580,BX927214,NM_021253,BC034985,BT007370,CH471081,CR759281,CR759928,AB046381,AB209284,AK292512,BC007661 NP_067076,NP_742013,BAD13703,BAD13704,BAE78608,CAI18251,CAI18252,CAI17501,CAI17502,CAI41818,CAI41819,CAM25899,CAM25900,CAQ08383,AAH34985,AAP36034,Q59G25,Q5STG3,Q5STG4,Q9HCM9,CAQ08384,EAX03283,EAX03284,EAX03285,EAX03286,CAQ09020,CAQ09021,CAQ08313,CAQ08314,BAB16374,BAD92521,BAF85201,AAH07661 Hs.413493 GDB:10796827 MGC32984|RNF23|TFP|TRIM39B protein-coding 1351905 TRIM4 tripartite motif-containing 4 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternative splicing of this gene generates two transcript variants. 1580863 16314882,15489334,14702039,12853948,12690205,12477932,11331580 89122 AK092892,BC011763,NM_033017,NG_000004,AC011904,CH236956,CH471091,AF220023,AF220024,NM_033091,BC025949,CR609720 NP_149082,NP_148977,AAS07396,AAS07397,AAS07398,EAL23864,EAL23865,EAW76625,EAW76626,EAW76627,EAW76628,AAG53477,AAG53478,AAH11763,AAH25949,Q75MK1,Q9C037 Hs.50749 GDB:11508072 RNF87 protein-coding 1346356 TRIM40 tripartite motif-containing 40 16702430,15489334,12477932 135644 NM_138700,AB110939,AB110940,AB202084,AL669914,AL671859,BX322644,BX927221,CH471081,CR788282,AF489517,BC060785,CB990357,CR597973 NP_619645,BAD13705,BAD13706,BAE78604,CAI18185,CAI17585,CAI18448,CAQ10306,CAQ10307,EAX03265,EAX03266,CAQ07454,CAQ07455,AAM09503,AAH60785,Q5SS36,Q6P9F5,ABZ92099 Hs.509439 GDB:11508495 RNF35 protein-coding 1318911 TRIM41 tripartite motif-containing 41 TRIM41 belongs to a family of tripartite motif (TRIM) proteins defined as containing a RING finger, one or more B-box domains, and a coiled-coil region (Tanaka et al., 2005 [PubMed 16022281]). See TRIM45 (MIM 609318).[supplied by OMIM] 1580863 17893151,16565220,16189514,16022281,15498874,15489334,14702039,12477932,11549288 90933 BC018765,BC071887,BC090953,BC111568,BC127195,BM457526,BX396615,CA430637,CR457349,NM_033549,NM_201627,AC008443,CH471165,AB063180,AB100366,AB100367,AF258579,AK027601,AK074052,AL137593,AL832960,BC004956,BC009762 AAH18765,AAH71887,AAH90953,AAI27196,CAG33630,Q658W3,Q8TES0,Q8WV44,Q9NT12,ABM83446,NP_291027,NP_963921,EAW53707,EAW53708,EAW53709,EAW53710,EAW53711,EAW53712,EAW53713,EAW53714,BAB70617,BAD07472,BAD07473,AAG23782,BAB84878,CAB70832,CAH56279,AAH04956,AAH09762 Hs.441488,Hs.700303 MGC1127|MGC31991|RINCK protein-coding 1353293 TRIM42 tripartite motif-containing 42 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. 1580863 14702039,11331580 287015 NM_152616,AC026324,CH471052,AF521868,AK097416,AL833848,BC130472,BC130474 NP_689829,EAW79015,AAO14945,BAC05042,CAD38707,AAI30473,AAI30475,Q8IWZ5 Hs.343487 FLJ40097|MGC163346 protein-coding 1353905 TRIM43 tripartite motif-containing 43 1580863 15489334,12477932 129868 NM_138800,AC009237,CH471207,BC015353 NP_620155,AAY14782,EAW71320,AAH15353,Q53TJ7,Q96BQ3,ABZ92545 Hs.232026 protein-coding 1312571 TRIM44 tripartite motif-containing 44 This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. 1580863 16554811,15489334,14702039,12477932,11331580,11165382 54765 NM_017583,AC026970,AC090692,AL138812,CH471064,AJ249128,AK021823,AK074242,BC013166,BC024031 NP_060053,EAW68133,EAW68134,EAW68135,CAB65108,AAH13166,AAH24031,Q96DX7,ABM81987,ABM85167 Hs.591987 DIPB|HSA249128|MC7|MGC3490 protein-coding 1319359 TRIM45 tripartite motif-containing 45 TRIM45 belongs to a family of tripartite motif (TRIM) proteins that play important roles in a variety of cellular functions, including cell proliferation, differentiation, development, oncogenesis, and apoptosis (Wang et al., 2004 [PubMed 15351693]).[supplied by OMIM] 1580863 16710414,15489334,15351693,14702039,12477932,9373149,8125298 80263 NM_025188,AL391476,CH471122,AK023243,AK222901,AY669488,BC034943,CR595070,CR602755 NP_079464,CAI12733,CAI12734,CAI12735,EAW56668,EAW56669,BAB14484,BAD96621,AAT76864,AAH34943,Q53GN0,Q5T2K3,Q5T2K6,Q9H8W5,ABZ92546 Hs.301526 FLJ13181|RNF99 protein-coding 1314352 TRIM46 tripartite motif-containing 46 1580863 16434393,15489334,14702039,12477932,9373149,8125298 80128 NM_025058,AL607067,AL713999,CH471121,AK026882,AK096158,AK128139,AK225075,AY251386,BC069416,BC069568,BC126372,CR601445 NP_079334,CAH71197,CAH71198,CAH71199,CAI95070,CAI95081,CAI95082,CAI95083,EAW53120,EAW53121,EAW53122,EAW53123,BAB15580,BAC87293,AAP51206,AAH69416,AAH69568,AAI26373,A0AVI6,Q4VX40,Q5VT60,Q5VT61,Q5VT62,Q7Z4K8 Hs.287735 FLJ23229|GENEY|TRIFIC protein-coding 1322764 TRIM47 tripartite motif-containing 47 1580863 17081983,16964243,15489334,12477932,11511098 91107 NM_033452,AC087289,CH471099,AY026763,BC006153,BC009225,BC017299,BG385464 NP_258411,EAW89330,EAW89331,EAW89332,AAK07687,AAH09225,AAH17299,Q96AD0,Q96LD4,AAH06153 Hs.293660 GOA|RNF100 protein-coding 1343096 TRIM48 tripartite motif-containing 48 1580863 15489334,12477932 79097 NM_024114,AP005597,CH471076,AF521869,BC001862 NP_077019,EAW73670,EAW73671,AAO14946,AAH01862,Q8IWZ4,ABZ92054 Hs.195715 MGC4827|RNF101 protein-coding 1352670 TRIM49 tripartite motif-containing 49 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. 15489334,12477932,11018261 57093 NM_020358,AP004833,CH471064,AB037682,BC075019,BC075020,BC126470,BC126472 NP_065091,EAW67863,BAB03503,AAH75019,AAH75020,AAI26471,AAI26473,Q9NS80,ABZ92357 Hs.534218 RNF18 protein-coding 1343210 TRIM5 tripartite motif-containing 5 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Five alternatively spliced transcript variants for this gene have been described. However, the full length nature of two of the variants has not been determined. 12878161,15919943,15967037,18248091,18166079,17609277,17588933,17543365,17406861,17392513,17156811,17135314,17087820,17028189,16973579,16956947,16912305,16809279,16808955,16643975,16624363,16501094,16474153,16474118,16472833,16401428,16289103,16254380,16226405,15767395,15709033,15649369,15489334,15280539,15249690,15249687,15249685,14985764,14702039,12477932,11331580,17083721,16828831,15994791,16887163 85363 NM_033034,NM_033093,NM_033092,AC015691,AC109341,CH471064,DQ301444,DQ301445,DQ301446,DQ301447,DQ301448,DQ301449,DQ301450,DQ301451,DQ301452,DQ301453,DQ301454,DQ301455,DQ301456,DQ301457,DQ301458,DQ301459,DQ301460,DQ301461,DQ301462,DQ301463,DQ301464,DQ301465,DQ301466,DQ301467,DQ301468,DQ301469,DQ301470,DQ301471,DQ301472,DQ301473,DQ301474,DQ301475,DQ301476,DQ301477,DQ301478,DQ301479,DQ301480,EU260465,AF220025,AF220026,AF220027,AF220028,AF220029,AK027593,AY625000,BC020770,BC021258,BX647152,CR616862,DQ288685 NP_149023,NP_149084,NP_149083,EAW68771,EAW68772,EAW68773,EAW68774,EAW68775,EAW68776,EAW68777,ABC00997,ABC00998,ABC00999,ABC01000,ABC01001,ABC01002,ABC01003,ABC01004,ABC01005,ABC01006,ABC01007,ABC01008,ABC01009,ABC01010,ABC01011,ABC01012,ABC01013,ABC01014,ABC01015,ABC01016,ABC01017,ABC01018,ABC01019,ABC01020,ABC01021,ABC01022,ABC01023,ABC01024,ABC01025,ABC01026,ABC01027,ABC01028,ABC01029,ABC01030,ABC01031,ABC01032,ABC01033,ABW96352,AAG53479,AAG53480,AAG53481,AAG53482,AAG53483,BAB55218,Q9C035,ABB90543,Q05CU3,AAT48101,AAH20770,AAH21258 Hs.370515 GDB:11508074 RNF88|TRIM5alpha protein-coding 735660 TRIM50 tripartite motif-containing 50 1580863 18398435,14702039,12853948,12477932 135892 NM_178125,AC073841,AK057366,AK292074,AY081948,AY081949,BC112152,BC112154 NP_835226,BAF84763,AAL91071,AAL91072,AAI12153,AAI12155,Q2M204,Q86XT4 Hs.647053 GDB:11510266 FLJ32804|MGC138357|MGC138359|TRIM50A tripartite motif protein 50 protein-coding 1347364 TRIM52 tripartite motif-containing 52 1580863 15489334,14702039,12477932 84851 NM_032765,AC008443,CH471165,AB209243,AK026706,AK054802,BC007372 NP_116154,EAW53703,EAW53704,EAW53705,BAD92480,BAB70809,AAH07372,Q59G66,Q96A61,ABZ92073 Hs.708154 MGC16175|RNF102 protein-coding 1344917 TRIM53 tripartite motif-containing 53 493855 1354245 TRIM54 tripartite motif-containing 54 The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. 11243782,15815621,10953002,10737800 57159 NM_032546,NM_187841,AC013413,CH471053,AJ291714,BC141807,BU633919,BF829678 NP_115935,NP_912730,AAY24296,EAX00606,EAX00607,CAC32841,CAC32842,AAI41808,Q9BYV2 Hs.516036 MURF|MURF-3|RNF30 protein-coding 1603290 TRIM55 tripartite motif-containing 55 The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. 11243782,15802564,15489334,14702039,12477932,12414993,11927605,15967462,15782160 84675 NM_033058,NM_184085,NM_184086,AK091310,AK091728,BC007750,BT007212,NM_184087,AC090195,CH471068,AJ243488,AJ243489,AJ277493,AJ291712,AJ431704 NP_149047,NP_908973,NP_908974,AAH07750,AAP35876,Q9BYV6,NP_908975,EAW86893,EAW86894,EAW86895,CAC43019,CAC43020,CAC81835,CAC32839,CAC32840,CAD24432 Hs.85524 MURF-2|RNF29 protein-coding 1342742 TRIM56 tripartite motif-containing 56 1580863 17081983,15489334,14702039,12853948,12477932 81844 NM_030961,AC105446,CH471197,AK075255,AL512757,BC005847,BC011882,BC048194 NP_112223,EAW50193,BAC11500,CAC21676,AAH05847,AAH11882,AAH48194,Q9BRZ2,ABZ92066 Hs.521092 DKFZP667O116|FLJ35608|RNF109 protein-coding 1352069 TRIM57 tripartite motif-containing 57 353185 1349557 TRIM58 tripartite motif-containing 58 15489334,14702039,12477932,14697242 25893 BX644877,DN998591,NM_015431,AC099571,AF327057,AK096188,BC074748 Q8NG06,AAH74748,NP_056246,AAM63958 Hs.323858 BIA2|DKFZp434C091 protein-coding 1349912 TRIM59 tripartite motif-containing 59 1580863 15941852,15489334,12477932,12095697 286827 BC109260,BX537987,NM_173084,AC024221,CH471052,AI215011,AK291284,AY159379,BC109259 AAI09260,AAI09261,CAD97947,Q6NUT0,Q7Z3C3,Q8IWR1,NP_775107,EAW78635,EAW78636,EAW78637,EAW78638,BAF83973,AAN86853 Hs.212957 MGC129860|MGC129861|MGC26631|MRF1|RNF104|TRIM57|TSBF1 protein-coding 1316640 TRIM6 tripartite motif-containing 6 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A read-through transcript transcribed from this gene and TRIM34 has been observed. 1580863 16775307,16498413,15489334,14702039,12477932,11331580,11013086,17156811,16828831 117854 NM_058166,NM_001003818,AC015691,CH471064,AF220030,AK023210,AK027664,AK290172,BC047564,BC065575,BG776117,CR624250,CR749260 NP_477514,NP_001003818,EAW68782,EAW68783,AAG53484,BAB55276,BAF82861,AAH47564,AAH65575,CAH18116,Q68DV4,Q6P0L0,Q9C030 Hs.125300 GDB:11508076 RNF89 protein-coding 1604884 TRIM6-TRIM34 TRIM6-TRIM34 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene represents a read-through transcript transcribed from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. 16775307,11013086 445372 NM_001003819,AC015691,AB039903,BC136871,BG721109 NP_001003819,BAB17050,AAI36872 Hs.125300 IFP1|RNF21|TRIM34 protein-coding 1350779 TRIM60 tripartite motif-containing 60 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. 15489334,14702039,12477932,8744354 166655 NM_152620,AC106872,CH471056,AK093201,BC100983,BC100984,BC100985,BC100986 NP_689833,EAX04827,BAC04093,AAI00984,AAI00985,AAI00986,AAI00987,Q495X7 Hs.368004 FLJ35882|MGC119325|RNF129|RNF33 protein-coding 1354030 TRIM61 tripartite motif-containing 61 15994318,15489334,12477932 391712 NM_001012414,AC106872,BC089393 NP_001012414,AAH89393,Q5EBN2 Hs.654633 MGC102996|RNF35 protein-coding 1346151 TRIM62 tripartite motif-containing 62 737633,1580863 16710414,15489334,15231748,14702039,12477932 737633 55223 NM_018207,AL662907,CH471059,AK001621,AK122896,BC001222,BC007999,BC011689,BC012152,CR592910 Q9BVG3,NP_060677,CAH70401,CAH70402,EAX07465,EAX07466,EAX07467,BAA91792,AAH01222,AAH07999,AAH11689,AAH12152,Q5VSX7 Hs.656006 FLJ10759|FLJ16558 protein-coding 1345707 TRIM63 tripartite motif-containing 63 This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is localized to the Z-line and M-line lattices of myofibrils, where titin's N-terminal and C-terminal regions respectively bind to the sarcomere. In vitro binding studies have shown that this protein also binds directly to titin near the region of titin containing kinase activity. Another member of this protein family binds to microtubules. Since these family members can form heterodimers, this suggests that these proteins may serve as a link between titin kinase and microtubule-dependent signal pathways in muscle. 11243782,11927605,17977773,17971512,17901116,17478621,16710414,15967462,15601779,15489334,14702039,12477932,12414993,12107412,11679633,11283016 84676 NM_032588,AL391650,CH471059,AF353673,AF361946,AJ276484,AK056942,BC080529,BT007373 NP_115977,CAI17133,EAX07848,AAK39519,AAK52497,CAC81706,BAB71318,AAH80529,AAP36037,Q6NR77,Q969Q1 Hs.279709 FLJ32380|IRF|MURF1|MURF2|RNF28|SMRZ protein-coding 1349864 TRIM64 tripartite motif-containing 64 120146 XM_061890,AP004607 XP_061890 C11orf28 protein-coding 1352380 TRIM65 tripartite motif-containing 65 737633 15489334,12477932 737633 201292 NM_173547,AC087289,CH471099,BC006138,BC013181,BC021259,BC073831,BC098412,BG701649,BQ070146,CA417316 NP_775818,EAW89333,EAW89334,EAW89335,EAW89336,AAH06138,AAH13181,AAH21259,AAH73831,AAH98412,Q6PJ69,Q96DX1 Hs.189823 4732463G12Rik protein-coding 1344439 TRIM66 tripartite motif-containing 66 1580863 15322135,11528127,9205841 9866 XM_001716253,XM_001716830,XM_001717903,AC091053,AC104360,AJ400879,AB002296 XP_001716305,XP_001716882,XP_001717955,CAC35389,BAA20758,O15016 Hs.130836 C11orf29|TIF1D|TIF1DELTA protein-coding 1352641 TRIM67 tripartite motif-containing 67 1580863 16710414,16434393,14702039 440730 NM_001004342,AL109810,AL137801,CH471098,AK055338,AK126782,AY253917,CR627464 NP_001004342,CAI19160,CAI19161,CAI19162,EAW69946,BAC86689,AAP69949,Q6ZTA4,AAI56317,AAI57056 Hs.655089 FLJ44831|TNL protein-coding 1344713 TRIM68 tripartite motif-containing 68 The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is expressed in many cancer cell lines. Its expression in normal tissues, however, was found to be restricted to prostate. This gene was also found to be differentially expressed in androgen-dependent versus androgen-independent prostate cancer cells. 16381901,15489336,15489334,14702039,12477932,11597395,11560955,11256614,11230166,11076863 55128 NM_018073,AC090719,CH471064,CS300677,AF360739,AF439153,AK001231,AK022923,AK056523,AK291166,AL832730,AY005802,BC075058,BC109063,CR605215 NP_060543,EAW68834,EAW68835,CAK32341,AAL11501,AAL31641,BAA91569,BAB14309,BAF83855,AAF91075,AAH75058,AAI09064,Q0JV32,Q6AZZ1,Q96LE5,CAL37628,ABZ92344 Hs.523438 FLJ10369|MGC126176|RNF137|SS-56 protein-coding 1312888 TRIM69 tripartite motif-containing 69 This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. 16189514,15489334,15231748,12837286,12477932,11578878 140691 NM_182985,NM_080745,AC122108,AF302088,AF302089,AK226115,AK292252,AL360161,AY305385,BC024199,BC031266,BC033314,BC047945,BI827618,BI829233,BM559467,DQ232883 NP_892030,NP_542783,AAL55810,AAL55811,BAF84941,AAQ75551,AAH24199,AAH33314,AAH47945,ABB18376,Q86WT6,ABZ92102 Hs.489254 GDB:11507606 HSD34|RNF36|Trif ring finger protein 36 protein-coding 1316458 TRIM7 tripartite motif-containing 7 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Multiple transcript variants have been found for this gene, and some of them encode the same isoform. 1580863 15489334,14984203,14702039,12477932,11916970,11331580,8889548 81786 NM_203293,NM_203296,NM_203295,NM_203294,NM_203297,NM_033342,AC008443,CH471165,AF220032,AF396651,AF396652,AF396653,AF396654,AF396655,AK124617,BC011567,BC080553,BC132863,BC132867,BM970007,BQ000256 NP_976038,NP_976041,NP_976040,NP_976039,NP_976042,NP_203128,EAW53715,EAW53716,EAW53717,EAW53718,EAW53719,EAW53720,AAG53486,AAK85377,AAK85378,AAK85379,AAK85380,AAK85381,AAH11567,AAH80553,AAI32864,AAI32868,Q9C029,ABM83511,ABM86729 Hs.487412 GDB:11508836 GNIP|RNF90 protein-coding 1606726 TRIM71 tripartite motif-containing 71 17890240,16247770,16245339,15722555 131405 NM_001039111,AC139452,DQ232881 NP_001034200,ABB18374,Q2Q1W2,AAI56153,AAI57053 Hs.567678 LIN-41|LIN41 protein-coding 1603795 TRIM72 tripartite motif-containing 72 15616553,15489334,14702039,12477932 493829 NM_001008274,AC009088,CH471192,AK090695,AK131485,BC033211 NP_001008275,EAW52145,EAW52146,BAC03506,BAD18630,AAH33211,Q6ZMU5 Hs.661859 protein-coding 1354482 TRIM73 tripartite motif-containing 73 1580863 15489334,14702039,12853948,12477932 375593 NM_198924,AC006014,AF498998,AK094396,AK126254,AK126632,BC033812,BC073780,BC073926 NP_944606,AAP30735,AAH33812,Q86UV7,Q8N4N6,AAI52801,AAI56767 Hs.632307,Hs.661254 GDB:11510267 MGC45477|TRIM50B protein-coding 1350983 TRIM74 tripartite motif-containing 74 12853948,12477932 378108 NM_198853,AC005488,AF498999,BC033871 NP_942150,AAP30736,AAH33871,Q86UV6,ABM81740,ABM84896 Hs.645328 GDB:11510268 MGC45440|TRIM50C protein-coding 1602800 TRIM75 tripartite motif-containing 75 8744354 391714 NM_001105575,AC108465 NP_001099045,A6NK02 Hs.705357 protein-coding 1319835 TRIM8 tripartite motif-containing 8 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to nuclear bodies. Its structure is similar to some tumor suppressor proteins and its gene maps to a locus thought to contain tumor suppressor genes. 1580863 11118312,17900511,15489334,15345195,12477932,12163497,11331580 81603 AF220034,AF281046,AL360160,BC021925,BG746631,NM_030912,AL391121,CH471066,AA907931,AF086326 AAG53488,AAG53087,AAH21925,Q5JSM3,Q9BZR9,ABM82945,ABM86135,NP_112174,CAI40861,EAW49679,EAW49680 Hs.336810 GDB:11504429 GERP|RNF27 protein-coding 736868 TRIM9 tripartite motif-containing 9 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. 1580863 16189514,15489334,14702039,12477932,12168954,11524423,11331580,9179496,1602151 114088 NM_015163,NM_052978,AL358334,AL591770,CH471078,AK054781,AK055388,BC013414,BC063872,BF966522,CR594583,CR626106,D87458 NP_055978,NP_443210,EAW65680,EAW65681,EAW65682,EAW65683,EAW65684,BAB70913,AAH13414,AAH63872,BAA13398,Q9C026 Hs.654750 GDB:11508839 KIAA0282|RNF91|SPRING tripartite motif protein 9 protein-coding 1605231 TRIML1 tripartite motif family-like 1 15489334,14702039,12477932 339976 NM_178556,AC138781,CH471056,AK093499,BC015684,BC113860,BC114469 NP_848651,EAX04607,EAX04608,BAC04185,AAH15684,AAI13861,AAI14470,Q8N9V2 Hs.348618 FLJ36180|MGC138638|MGC138639|RNF209 protein-coding 1602827 TRIML2 tripartite motif family-like 2 12477932 205860 NM_173553,AC108073,CH471056,AK098667,AY435043,AY435044,BC111959,BC111961 NP_775824,EAX04609,BAC05372,AAR11851,AAR11852,AAI11960,AAI11962,Q6T5J5,Q8N7C3 Hs.276429 FLJ25801|MGC138164|MGC138166|SPRYD6 protein-coding 1345911 TRIMP1 tripartite motif-containing pseudogene 1 11331580 117852 NR_002777,AC015691,AC109341,AF230412,AL360159,AL360183 Hs.125300 GDB:11508078 pseudo 1318084 TRIO triple functional domain (PTPRF interacting) 1580863 8643598,17606614,17391702,17081983,16752383,16094384,16033331,15489334,15308664,15215162,15199069,14702039,12477932,11595749,11146652,10948190,10341202,9790533,9154137 7204 NM_007118,AC010419,AC016549,AC016654,AC016656,AC026456,CH471102,AB115332,AB209754,AF091395,AI478154,AK131423,BC017268,BC035585,BF058117,BQ009698,BQ691537,CR620371,U42390 NP_009049,EAX08044,EAX08045,EAX08046,EAX08047,EAX08048,BAC79392,BAD92991,AAC43042,BAD18570,AAH17268,AAH35585,AAC34245,O75962,Q7Z2K2 Hs.130031 GDB:5772857 tgat protein-coding 1605399 TRIOBP TRIO and F-actin binding protein This gene encodes a protein that interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. This trio-binding protein also associates with F-actin and stabilizes F-actin structures. Domains contained in this encoded protein are an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). 11148140,17629495,18194665,17081983,16385458,16385457,16381901,15489336,15489334,14702039,12477932,12168954,11258795,11076863,10591208,9853615,8889548,8500161 11078 NM_001039141,NM_007032,NM_138632,CH471095,AB015343,AF281030,AK096634,AL713698,AW444985,BC003618,BC004303,BC013278,BC022200,BM682463,BQ880866,BU621193,BU675400,BX342673,CR610295,CR621354,DQ228003,DQ228004,DQ228005,DQ278603 NP_001034230,NP_008963,NP_619538,EAW60181,EAW60182,EAW60183,EAW60184,EAW60185,EAW60186,BAA34800,AAG44841,CAD28497,AAH03618,AAH04303,AAH13278,ABB59559,ABB59560,ABB59561,ABB77204,Q0JUY4,Q8TCM3,Q9H2D6,CAL37626,CAL37676 Hs.533030 DFNB28|FLJ39315|HRIHFB2122|KIAA1662|TARA|dJ37E16.4 protein-coding 732056 TRIP10 thyroid hormone receptor interactor 10 1580863 17512409,9210375,17785506,17081983,16630611,16343437,16326391,16318909,16189514,15752756,15489334,15047863,14502124,12736724,12604778,12477932,12456510,12242347,12054674,11691828,11431473,11294612,11069762,10713100,9373149,8125298,7776974,15163742 9322 AC008760,CH471139,AB007845,AB072596,AF380114,AF502289,AJ000414,AK223109,AL832186,AY081141,NM_004240,BC013002,BG494851,BQ931996,BT006698,BT020167,BT020171,CB997985,CR536513,CR591990,L40379 NP_004231,EAW69060,EAW69061,EAW69062,EAW69063,EAW69064,EAW69065,BAF80144,BAB88853,AAK77492,AAM46851,CAA04062,BAD96829,AAL89588,AAH13002,AAP35344,AAV38969,AAV43773,CAG38751,AAC41729,Q15642,ABM83673,ABM86961 Hs.515094 GDB:9955998 CIP4|HSTP|STOT|STP protein-coding 1318006 TRIP11 thyroid hormone receptor interactor 11 TRIP11 was first identified through its ability to interact functionally with thyroid hormone receptor-beta (THRB; MIM 190160). It has also been found in association with the Golgi apparatus and microtubules.[supplied by OMIM] 1580863 17438371,9256431,18451304,17081983,15485806,12508121,12477932,12383348,11463340,10189370,9373237,7776974,16189514 9321 NM_004239,AL049872,CH471061,AF007217,AF011368,BC002656,BC069008,BC146845,BX641024,L40380,Y12490 NP_004230,EAW81468,EAW81469,AAD09135,AAB84386,AAI46846,CAE46015,AAC41730,CAA73095,Q15643,Q6MZL5 Hs.632339 GDB:9955996 CEV14|GMAP-210|TRIP230 protein-coding 1315318 TRIP12 thyroid hormone receptor interactor 12 1580863 7776974,17081983,16964243,15302935,15231748,12477932,12421765,7584044 9320 AC009973,AC093384,AC105380,CH471063,BC037956,BC113891,BC114556,NM_004238,D28476,L40383 AAY14755,AAY14681,AAX82004,EAW70896,EAW70897,EAW70898,EAW70899,EAW70900,EAW70901,EAW70902,EAW70903,EAW70904,EAW70905,EAW70906,EAW70907,EAW70908,AAI13892,NP_004229,AAI14557,BAA05837,AAC41731,Q14669,Q14CA3,Q14CF1,Q53R87,Q53TE7,Q57Z94 Hs.591633 GDB:9784433 KIAA0045|MGC138849|MGC138850 protein-coding 1318331 TRIP13 thyroid hormone receptor interactor 13 1580863 9223484,16169070,7776974,16189514,15592455,15489334,15388255,12477932,11591653,9199503 9319 NM_004237,AC122719,CH471102,BC000404,BC019294,CR456744,CR593914,CR596381,L40384,U96131 NP_004228,EAX08185,EAX08186,AAH00404,AAH19294,CAG33025,AAC41732,AAB64095,Q15645,ABZ92274 Hs.436187 GDB:9955995 16E1BP protein-coding 1315680 TRIP4 thyroid hormone receptor interactor 4 1580863 10454579,7776974,15592455,15489334,12477932,12077347,10567404,16189514 9325 NM_016213,AC087632,AC091231,CH471082,AK000433,BC012448,BQ225927,CA425850,CR608924,CR616759,L40371 NP_057297,EAW77684,EAW77685,AAH12448,AAC41738,Q15650,ABZ92275 Hs.500340 GDB:9956001 HsT17391 protein-coding 1353366 TRIP6 thyroid hormone receptor interactor 6 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863 17353931,15657077,9598321,14688263,17652164,17081983,16624523,16240724,16137684,15489334,15489293,15148318,14702039,12690205,12533418,12477932,11782456,11771657,11336797,11239002,10826496,10794523,10400701,9466265,7776974,16189514 7205 CR600397,NM_003302,AC011895,AF093836,AF312032,CH236956,CH471091,AF000974,AF025437,AJ001902,AK056773,AK291906,BC002680,BC004249,BC004999,BC021540,BC028985,BM800083,CR597445,CR605297,CR605367,CR611447,CR612634,CR614307,CR615312,CR615794,CR616514,CR621644,CR622523,CR624193,CR624549,CR749505,L40374 NP_003293,AAD03037,AAK21007,EAL23817,EAW76471,EAW76472,EAW76473,EAW76474,AAB62222,AAC39557,CAA05080,BAF84595,AAH02680,AAH04249,AAH04999,AAH21540,AAH28985,CAH18326,AAC41740,Q15654,Q68D94,Q71V88,ABM83819,ABM87139 Hs.534360 GDB:9120548 MGC10556|MGC10558|MGC29959|MGC3837|MGC4423|OIP1|ZRP-1 protein-coding 1312422 TRIT1 tRNA isopentenyltransferase 1 1580863 11111046,17145094,17081983,16710414,15870694,15489334,14702039,12477932,11560893,9373149,8125298 54802 NM_017646,AL033527,CH471059,AK000068,AK074222,AK223478,AY052768,AY303390,AY702933,AY702934,AY702935,AY702936,AY702937,AY702938,AY702939,AY702940,AY702941,AY702942,AY702943,AY702944,AY702945,AY702946,AY702947,BC010741,BC107569,BC128155,BC128156,CR457226,CR604485,CR614254,AF074918 NP_060116,CAI19404,CAI19405,CAI19406,EAX07252,EAX07253,BAA90923,BAD97198,AAL14107,AAP60111,AAW63394,AAW63395,AAW63396,AAW63397,AAW63398,AAW63399,AAW63400,AAW63401,AAW63402,AAW63403,AAW63404,AAW63405,AAW63406,AAW63407,AAH10741,AAI07570,AAI28156,AAI28157,CAG33507,Q3T7B4,Q3T7B5,Q3T7B8,Q3T7C3,Q3T7C5,Q3T7C6,Q3T7C7,Q53F11,Q5QPK5,Q5QPK7,Q9H3H1,AAG31324 Hs.356554 FLJ20061|IPT|MGC149242|MGC149243|MOD5 protein-coding 1354339 TRLP1 tRNA leucine (AAG) pseudogene 1 8293999 7209 NG_001204,L15362 GDB:138356 pseudo 1346845 TRMEP1 tRNA methionine elongator pseudogene 1 8293999 7211 NG_001205,L15363 GDB:138355 pseudo 1601995 TRMT1 TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) 16964243,16189514,15489334,15057824,14702039,12477932,10982862 55621 Q9NXH9 AC005546,CH471106,AF075055,AF196479,AK000251,BC002492,BC018302,BC034242,BC040126,CR618815,CR620881,NM_017722 NP_060192,AAC33150,EAW84345,EAW84346,EAW84347,EAW84348,EAW84349,EAW84350,EAW84351,AAG28495,BAA91031,AAH02492,AAH18302,AAH40126,Q9NXH9 Hs.515169 FLJ20244 protein-coding 1314969 TRMT11 tRNA methyltransferase 11 homolog (S. cerevisiae) 12477932,15592455,15489334,14574404 60487 Q5JY01,Q5JY02,Q5JY03,Q5JY10,Q7Z4G4 NM_001031712,AL035689,CH471051,AF182423,AF532977,BC056878,CR615219 NP_001026882,CAI42391,CAI42392,CAI42393,CAI42394,EAW48124,EAW48125,EAW48126,EAW48127,AAG14959,AAQ10284,AAH56878,Q5JY01,Q5JY02,Q5JY03,Q5JY10,Q7Z4G4 Hs.404186 C6orf75|MDS024|TRM11|c6orf75|dJ187J11|dJ187J11.2 chromosome 6 open reading frame 75 protein-coding 1605990 TRMT12 tRNA methyltransferase 12 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM] 17440925,17150819,16005430,15489334,15342556,14702039,12477932,9373149,8125298 55039 NM_017956,AC090192,AF313041,CH471060,AA608716,AK000779,AK222727,AK225083,BC003057,BC011713,BP342608,CR592089 NP_060426,EAW92062,BAA91374,BAD96447,AAH03057,AAH11713,Q53H54 Hs.9925 FLJ20772|TRM12|TYW2 protein-coding 1315256 TRMT5 TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM] 15489334,15248782,12477932,10718198 57570 NM_020810,AL160236,CH471061,AB037814,BC029638,BC063551,BC108284,BC136606,BC136607,BQ050607,DB448202 NP_065861,EAW80792,BAA92631,AAH63551,AAI08285,AAI36607,AAI36608,Q32P41,Q6P4B2 Hs.380159 KIAA1393|MGC111453|TRM5 protein-coding 1604623 TRMT6 tRNA methyltransferase 6 homolog (S. cerevisiae) The protein encoded by this gene is similar to an uncharacterized protein from C. elegans. Although the function of the encoded protein is unknown, it shares weak sequence similarity to a region of S. cerevisiae translation initiation factor subunit Gcd10p. 16043508,15489334,14702039,12477932,11780052,10810093,10574461 51605 NM_015939,AL035461,CH471133,AB032979,AF132943,AK000613,AL556917,BC001262,CR601280,CR607627 NP_057023,CAB55274,EAX10406,EAX10407,BAA86467,AAD27718,AAH01262,Q9UJA5 Hs.128791 CGI-09|GCD10|Gcd10p|MGC5029 protein-coding 1322577 TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon. 1580863 16826519,16513084,16341674,15944150,15509579,15461802,14746906,14702039,12477932,10591208 55687 O75648,Q05C99,Q2PPL4,Q2PPL5,Q66K31,Q6ICC3,Q9NWC1 CR601817,CR604463,CR617888,DN997542,DQ309998,DQ309999,DQ310000,AB178028,AK000212,AK001002,AK055295,AK093743,AY062123,BC012076,BC027991,BC066593,BC080631,BM755897,BX952612,CR456445,NM_018006,AF448221,AL031588,CH471138 ABC46690,ABC46691,ABC46692,O75648,Q05C99,Q2PPL4,Q2PPL5,Q66K31,Q6ICC3,Q9NWC1,CAK54474,CAK54773,EAW73423,EAW73424,EAW73425,EAW73426,BAD66875,BAA91462,AAL38183,AAH27991,AAH80631,CAG30331,NP_060476,AAL35970,CAB38414,EAW73422 Hs.439524 MGC99627|MTO2|MTU1|TRMT|TRMT1|TRNT1|trmt1 trna (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1 protein-coding 1350834 TRNAA1 transfer RNA alanine 1 (anticodon UGC) 8661117 7154 Z69591 GDB:568493 TRAN trna alanine trna 1605135 TRNAA2 transfer RNA alanine 2 (anticodon UGC) 3613974 100009603 M17880 trna 1605134 TRNAA3 transfer RNA alanine 3 (anticodon UGC) 3613974 100009604 M17881 trna 1349868 TRNAE1 transfer RNA glutamic acid 1 (anticodon UUC) 6134271,2912885 7193 J00309 GDB:120447 TRE|TRNE trna glutamic acid trna 1352392 TRNAE2 transfer RNA glutamic acid 2 (anticodon UUC) 2251139 7194 X54483 GDB:120448 TRE2|TREL1 trna glutamic acid-like 1 trna 1605133 TRNAF1 transfer RNA phenylalanine 1 (anticodon GAA) 3678837 100009605 M17622 trna 1605132 TRNAF2 transfer RNA phenylalanine 2 (anticodon GAA) 1191278 100009606 K00350 trna 1347489 TRNAG1 transfer RNA glycine1 (anticodon CCC) 12787505,2989090,12837248 7195 M11273 GDB:120449 TRG1 trna glycine (ccc) 1 trna 1344258 TRNAG2 transfer RNA glycine 2 (anticodon GCC) 2066114,116197 7196 K00208 GDB:128172 TRG2 trna glycine 2 trna 1347977 TRNAG5 transfer RNA glycine 5 (anticodon GCC) 3019833 7198 M13661 GDB:120450 TRG5|TRGL1 trna glycine (gcc)-like 1 trna 1605131 TRNAH5 transfer RNA histidine 5 (anticodon GUG) 6188108 100009607 X01553 trna 1351507 TRNAK1 transfer RNA lysine 1 (anticodon UUU) 2066114,6296772,3678837 7206 K01797 GDB:120452 TRK1 trna lysine 1 trna 1642402 TRNAK2 transfer RNA lysine 2 (anticodon CUU) 2766931 790966 M33940 TRK2 trna 1625452 TRNAK3 transfer RNA lysine 3 (anticodon UUU) 17012271,3678837 100049613 M17621 trna 1349810 TRNAL1 transfer RNA leucine 1 (anticodon CUU) 1899574,1686015 7207 M63633 GDB:118892 TRL1|TRNP1 trna leucine 1 trna 1352300 TRNAL2 transfer RNA leucine 2 (anticodon UAG) 12086967,6296772,3637777,2066114 7208 K01797,X04117 GDB:120453 TRL2 trna leucine 2 trna 1345406 TRNAM1 transfer RNA methionine 1 (anticodon CAU) 8661117 7210 Z69292 GDB:568491 TRM1 trna methionine 1 trna 1346477 TRNAMI1 transfer RNA methionine initiator 1 (anticodon CAU) 6308668,6261953 7212 J00310 GDB:120454 RNTMI|TRM1|TRMI1 trna methionine initiator 1 trna 1349805 TRNAMI2 transfer RNA methionine initiator 2 (anticodon CAU) 6308668,6261953 7213 J00311 GDB:120455 RNTMI2|TRM2|TRMI2 trna methionine initiator 2 trna 735319 TRNAN1 transfer RNA asparagine 1 (anticodon GUU) 6783075,2757033 7214 K00167 GDB:120733 RNN|TRN|TRN1 asp-, gly-, glu- and leu-trnas cluster trna 1604664 TRNAN2 transfer RNA asparagine 2 (anticodon GUU) 6234206 791226 K01921 TRN2 trna 1604663 TRNAN3 transfer RNA asparagine 3 (anticodon GUU) 6234206 791227 K01920 TRN3 trna 1344158 TRNAP1 transfer RNA proline 1 (anticodon AGG) 11223103,7219534,3557125,3472707,1686015,1377597,1301157 7217 M15274 GDB:118893 TRNP1|TRP1 trna proline 1 trna 1342763 TRNAP2 transfer RNA proline 2 (anticodon UGG) 3557125 7218 M15347 GDB:118894 TRNP1|TRP2 trna proline 2 trna 1346752 TRNAP3 transfer RNA proline 3 (anticodon UGG) 2676726,2613239 7219 M27835 GDB:120456 TRP3 trna proline (ugg) 3 trna 1353079 TRNAQ1 transfer RNA glutamine 1 (anticodon CUG) 6296772,2066114 7228 K01797 GDB:120457 TRQ1 trna glutamine 1 trna 1349965 TRNAQ2 transfer RNA glutamine 2 (anticodon UUG) 2041751 7229 X58792 GDB:128991 TRQ2 trna glutamine 2 trna 1353741 TRNAR1 transfer RNA arginine 1 (anticodon UCU) 10662545,7703509,2066114 7230 AC129492,Z26635 GDB:128170 TRR1 trna arginine (ucu) 1 trna 1343866 TRNAR2 transfer RNA arginine 2 (anticodon ACG) 8344269,2585499,1457046 7231 X64282 GDB:136384 TRR2 trna arginine (acg) 2 trna 1347212 TRNAR3 transfer RNA arginine 3 (anticodon UCG) 8661117 7232 Z69590 GDB:568492 TRR3 trna arginine (ucg) 3 trna 1348651 TRNAS1 transfer RNA serine 1 (anticodon UGA) 3648680 94017 Y00355 GDB:132395 TRS1 trna serine (uga) 1 trna 1342551 TRNAS2 transfer RNA serine 2 (anticodon AGA) 3697066 23437 M38616,X06221 GDB:132396 TRNS|TRS2|tRNA-SER trna serine (aga) 2 trna 1351968 TRNAS3 transfer RNA serine 3 (anticodon UGA) 1549482 23540 X63138 GDB:132397 TRS3 trna serine (uga) 3 trna 1605442 TRNAS4 transfer RNA serine 4 (anticodon AGA) 3340558 790951 X06760 TRS4 trna 1348605 TRNAT1 transfer RNA threonine 1 (anticodon UGU) 2676726,2613239 7236 M27834 GDB:120458 TRT1 trna threonine (ugu) 1 trna 1351363 TRNAV1 transfer RNA valine 1 (anticodon AAC) 2766931 7239 M33940 GDB:120460 TRV|TRV1 trna valine 1 trna 1642404 TRNAV6 transfer RNA valine 6 (anticodon CAC) 2766931 100049614 M33940 TRV6 trna 1604662 TRNAV7 transfer RNA valine 7 (anticodon RAC) 3023191 791230 M15782 HtV1|TRV7 trna 1604661 TRNAV8 transfer RNA valine 8 (anticodon RAC) 3023191 791231 M15783 HtV2|TRV8 trna 1604660 TRNAV9 transfer RNA valine 9 (anticodon CAC) 3023191 791232 M15784 HtV3|TRV9 trna 1605137 TRNAY1 transfer RNA tyrosine 1 (anticodon GUA) 3636257 100009601 M27547 Tyr-tRNA trna 1605136 TRNAY2 transfer RNA tyrosine 2 (anticodon GUA) 3636257 100009602 M27548 Tyr-tRNA trna 1347704 TRNL tRNA asparagine-like 7215 GDB:120734 1318871 TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1 1580863 11504732,11256614,17204286,16381901,16344560,15489336,15489334,12729736,12477932,11727826,11230166,11076863,10810093 51095 NM_182916,AC024060,CH471055,AB063105,AF151805,AK290411,AL834397,BC005184,BC012537,BQ722111,CR622655,DA884423,DB032432,DB525237 NP_886552,EAW63885,EAW63886,EAW63887,EAW63888,EAW63889,BAB70662,AAD34042,BAF83100,CAD39059,AAH05184,AAH12537,Q0JTM4,Q0JVB3,Q96Q11,CAL37547,CAL38138 Hs.567495 GDB:11508497 CCA1|CGI-47|MtCCA protein-coding 1605121 TRO trophinin This gene encodes a membrane protein that mediates apical cell adhesion between trophoblastic cells and luminal epithelial cells of the endometrium and is implicated in the initial attachment during the process of embryo implantation. This gene is related to the MAGED gene family by sequence similarity and chromosome location. Multiple alternatively spliced transcript variants have been found for this gene; however, the full-length nature of some variants has not been defined. 7758945,18078818,17597582,17495530,17487845,17360433,16713569,16288751,15772651,15162511,14702039,14633596,12878157,12477932,12297480,11454705,10797941,10470851,10026108,9560222,9533028,9373149,8889548,8125298,16189514 7216 NM_001039705,NM_016157,NM_177556,AL049732,CH471154,AB029037,AF349719,AF349720,AF349721,AF349722,AK001300,AK027489,AK027861,AK225841,AU279883,BC026914,BM693634,U04811 NP_001034794,NP_057241,NP_808224,EAW93200,EAW93201,EAW93202,EAW93203,EAW93204,EAW93205,EAW93206,BAA83066,AAK30170,AAK30171,AAK30172,AAK30173,BAA91609,BAB55149,AAH26914,AAA79334,Q5JXS4,Q5JXS6,Q8TAL3,Q96SX2,Q9BX88,Q9BX89,Q9BX90,Q9BX91,Q9NVY3,Q12816 Hs.695979 GDB:9411733 KIAA1114|MAGE-d3|MAGED3 protein-coding 1315734 TROAP trophinin associated protein (tastin) 1580863 7758945,16964243,12477932,12049630,10026108,9560222,16189514 10024 NM_005480,NM_001100620,AC125611,CH471111,BC011597,BC018627,BC032583,CD366215,CR610448,CR617005,DC410015,U04810 NP_005471,NP_001094090,EAW58062,EAW58063,EAW58064,AAH11597,AAH32583,AAA79333,Q12815,Q6PJU7,Q8N5B2,ABM81833,ABW03299,ABM84486 Hs.524399 GDB:11508606 TASTIN protein-coding 1312904 TROVE2 TROVE domain family, member 2 1580863 3200833,17353931,18056422,17552056,16710414,15964842,15928345,15489334,12477932,12102760,12096904,11251884,10545525,8188321,7829096,7602431,6421292,6201849,3926904,2649513,1999763,1689160 6738 NM_001042369,NM_004600,AL136370,NM_001042370,CH471067,U44388,AY205314,AY205315,BC036658,BI560207,BQ227323,BX394323,CR592331,CR616562,CR936683,J04137,M25077 NP_001035829,NP_001035828,NP_004591,CAC17589,CAI10822,CAI10823,CAI10824,CAI10825,EAW91239,EAW91240,EAW91241,EAW91242,EAW91243,EAW91244,EAW91245,EAW91246,EAW91247,AAB81552,AAB81553,AAO47001,AAO47002,AAH36658,AAA35493,AAA35532,P10155,Q5LJ97,Q5LJ98,Q5LJ99,Q5LJA0,Q86WL3,Q86WL4,ABM82452,ABM85642 Hs.288178 GDB:355563 RO60|SSA2 sjogren syndrome antigen a2 (60kda, ribonucleoprotein autoantigen ss-a/ro) protein-coding 1344231 TRPA1 transient receptor potential cation channel, subfamily A, member 1 The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. 1580863 10066796,17571167,17285310,17217068,17164327,16500080,16382100,14712238,9511734 8989 NM_007332,AC016057,AC022867,CH471068,Y10601 NP_015628,EAW86986,CAA71610,O75762,AAI48424,AAI53004 Hs.667156 ANKTM1 protein-coding 734058 TRPC1 transient receptor potential cation channel, subfamily C, member 1 1580863 12356946,12196544,12060571,12032305,11983166,11336651,11301024,11290752,11139478,10980191,10970773,10766822,10097141,9215637,7589464,15757897,8663995,8646775,7568191,18249094,18184923,18172497,17892531,17348017,17289052,17233611,17224452,17217049,16899508,16870612,16822931,16709572,16551274,16529812,16527499,16382100,16344560,16283206,15972814,15834157,15763245,15654973,15623527,15542611,15347566,15220115,15188402,15105836,15016832,14707123,14706284,14614461,14530267,14505576,12857742,12766172,12736151,12732636,12477932 7220 NM_003304,AC022291,AC072028,CH471052,CS105825,AB255425,BC112338,BC113953,BX331349,DB185459,EF522961,X89066 NP_003295,EAW78963,EAW78964,CAJ01296,BAF76425,AAI12339,AAI13954,ABP94017,CAA61447,P48995,Q14CE4 Hs.250687 GDB:635773 HTRP-1|MGC133334|MGC133335|TRP1 transient receptor protein 1 protein-coding 1350987 TRPC2 transient receptor potential cation channel, subfamily C, member 2 (pseudogene) 17217050,16382100,12631698,12601176,7568191,14505576,14699131,11290752 7221 NR_002720,AC060812,AB231779,X89067 BAE46900,Q3C1U7 Hs.131910,Hs.690732 GDB:635774 pseudo 733864 TRPC3 transient receptor potential cation channel, subfamily C, member 3 724705,1580490,1580863 15744307,15757897,9215637,9368034,18262493,18215135,18177730,17967814,17569672,17360584,17258231,17217051,17023658,16537542,16529812,16484216,16448384,16407161,16382100,16331690,15972814,15834157,15766521,15728370,15199065,15327778,15271991,15104175,14983059,14736881,12970363,12857742,12736256,12736151,12730194,12700192,12606542,12477932,12377790,12356946,12032305,11943785,11524429,10611319,9930701,9853757,9535843,9417057,8646775,7568191,14505576,15654973,15647288,15623527,15489334,15358862 724705,1580490 7222 NM_003305,AC079341,AC108930,CH471056,CS105827,AB255423,AB255424,AY865574,BC093682,BC093684,X89068,Y13758 NP_003296,AAY40971,EAX05243,CAJ01297,BAF76423,BAF76424,AAW62292,AAH93682,AAH93684,CAA61448,CAA74083,Q13507,Q4W5P7,Q5G1L5 Hs.150981 GDB:635780 TRP3 transient receptor protein 3 protein-coding 733150 TRPC4 transient receptor potential cation channel, subfamily C, member 4 724705,1580863 10816590,14505576,10980202,16254212,8646775,18048348,18021253,17217052,17081983,17074721,17031666,16527499,16382100,16144838,16033767,15757897,15540229,15358862,12857742,12736151,12477932,12356946,12154080,12032305,11830588,11713258,11290752,11163362,11042129 724705 7223 NM_016179,AL138679,AL354802,AL356495,CH471075,AF063822,AF063823,AF063824,AF063825,AF175406,AF421358,AF421359,AF421360,AF421361,AF421362,BC104725,BC105306,BC105641,BC105917,BX648312,U40983 NP_057263,EAX08595,EAX08596,EAX08597,EAX08598,EAX08599,EAX08600,EAX08601,AAF22927,AAF22928,AAF22929,AAF22930,AAD51736,AAL24549,AAL24550,AAL24551,AAL24552,AAL24553,AAI04726,AAI05307,AAI05642,AAI05918,AAC50630,Q2M2U7,Q3KR50,Q3MHB9,Q5W0R1,Q5W0R2,Q5W0R3,Q5W0R4,Q5W0R5,Q96P03,Q96P04,Q96P05,Q9UBN4 Hs.262960 GDB:1211172 HTRP4|MGC119570|MGC119571|MGC119572|MGC119573|TRP4 transient receptor protein 4 protein-coding 1320513 TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein 12047747,11133832,11532960,16730941,15489334,14585990,12693554,12477932,11780052,9110174,8889548,8619474,16189514 26133 BC013144,BI488542,BM149369,BM723903,CF125531,CR590600,NM_015638,NM_199368,AL132825,CH471077,AF055022,AK074106,AL096738,AL117480,BC001323,BC008836 AAH08836,AAH13144,Q8TEL6,NP_056453,NP_955400,CAC14946,EAW76229,EAW76230,EAW76231,EAW76232,EAW76233,EAW76234,EAW76235,BAB84932,CAB55953,AAH01323 Hs.168073 C20orf188|TRRP4AP|TRUSS protein-coding 733334 TRPC5 transient receptor potential cation channel, subfamily C, member 5 1580863 15757897,10493832,18172497,17981154,17925457,17884814,17233612,17217053,16950785,16382100,16368680,16284075,15772651,15763245,15647288,12858178,12857742,12766233,12736151,12531519,12032305,11301024,11290752,10980202,14505576 7224 BC137274,NM_012471,AC005191,AL031388,AL049563,CH471120,AB209258,AF054568,BC137271 AAI37275,Q59G51,Q9UL62,AAI37272,NP_036603,AAC24563,EAX02630,BAD92495,AAF00002 Hs.657709 GDB:1211174 TRP5 transient receptor protein 5 protein-coding 1347433 TRPC6 transient receptor potential cation channel, subfamily C, member 6 1580490,1580863 15757897,9930701,18258814,18209485,17872462,17719101,17699555,17684020,17360584,17317623,17217054,17197445,17116414,17081983,16690880,16527499,16439426,16382100,16034470,15998650,15924139,15879175,15623527,15489334,15362854,15358862,15023993,14761972,14702039,14699131,14688372,14662757,12970363,12871853,12857742,12766233,12765698,12736151,12564954,12531519,12477932,12377790,12356946,12351388,12032305,11988098,11290752,10816590,10368108,9925922,14505576 1580490 7225 NM_004621,AP003079,AP003080,CH471065,AF080394,AF086426,AJ006276,AJ007018,AJ271066,AJ271067,AJ271068,AK001960,AK027769,BC093658,BC093660 NP_004612,EAW67003,EAW67004,EAW67005,AAC63289,CAA06943,CAC06090,CAC01684,CAC01685,CAC01686,AAH93658,AAH93660,Q9Y210 Hs.159003 GDB:9864457,GDB:9958137 FLJ11098|FLJ14863|FSGS2|TRP6 protein-coding 1604862 TRPC6P transient receptor potential cation channel, subfamily C, member 6 pseudogene 644218 NG_005687,AJ271736 TRPC6L pseudo 1349355 TRPC7 transient receptor potential cation channel, subfamily C, member 7 1580863 15757897,18021175,17217055,16741513,16382100,16123040,15972814,15342342,12477932,11805119 57113 AJ549090,AJ549089,AY167926,AY167927,BC128185,BC128186,NM_020389,AC008661,CH471062,AJ272034,AJ421783,AJ549088 CAD70163,CAD70162,AAO12124,AAO12125,AAI28186,AAI28187,Q70T24,Q70T25,Q70T26,Q8IWP7,Q8IWP8,Q8WWL3,Q9HCX4,NP_065122,EAW62187,EAW62188,EAW62189,EAW62190,EAW62191,EAW62192,CAC03489,CAD19069,CAD70161 Hs.591263 TRP7 protein-coding 1312607 TRPM1 transient receptor potential cation channel, subfamily M, member 1 The protein encoded by this gene is similar to the transient receptor potential (Trp) calcium channel family members. The expression of this protein is inversely correlated with melanoma aggressiveness, suggesting that it suppresses melanoma metastasis. 9806836,16382100,14744763,12477932,11535825,11112417,9537257,8889548 4308 NM_002420,AC009562,AC090829,CH471216,AB115498,AB115499,AB115500,AB115501,AB115502,AF071787,BC005892,BC017849,BC033627,BC058286,BC070356,BM695497,N42519 NP_002411,EAW61260,EAW61261,EAW61262,EAW61263,EAW61264,BAC80200,BAC80201,BAC80202,BAC80203,BAC80204,AAC80000,AAH58286,Q6PE48,Q7Z4N2,AAI56070 Hs.155942 GDB:9837767 LTRPC1|MLSN1 protein-coding 1323582 TRPM2 transient receptor potential cation channel, subfamily M, member 2 The protein encoded by this gene is a calcium-permeable cation channel that is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. 1580863 9806837,18048770,17940282,17604279,17525977,17251321,17217061,17060318,16822940,16777714,16733555,16719842,16601673,16585058,16565078,16461353,16382100,16316998,16306129,16260005,16252251,16075382,15808509,15708008,15561722,12594222,12564954,12529379,12477932,12377790,12032305,11960981,11804595,11509734,11385575,11290752,10830953,9179495 7226 NM_003307,AP001063,AP001064,AP001065,AP001754,CH471079,D86107,DQ012935,AB001535,AB017549,AB166745,AB166746,AJ417076,AJ878416,AY603182,BC041570,BC112342,BI755424,BI906484,R85260 BAA95563,EAX09426,NP_003298,EAX09427,EAX09428,AAY22174,BAA34700,BAB64300,BAD83705,BAD83706,CAD01139,CAI47593,AAT12288,AAI12343,O94759,Q14DR2,Q5KTC1 Hs.369759 GDB:9836321 EREG1|KNP3|LTRPC2|MGC133383|NUDT9H|NUDT9L1|TRPC7 protein-coding 1312585 TRPM3 transient receptor potential cation channel, subfamily M, member 3 The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. 15824111,18224337,17233610,17217062,16382100,15550678,15164053,14702039,12672827,12672799,12477932,12107413,12107412,11230166,10997877,9373149,8889548,8125298 80036 AB046836,AB099661,AB099662,AB099663,AB099664,AB099665,AF325212,AF536748,AF536749,AF536750,AF536751,AF536752,AF536753,AJ505025,AJ505026,AK021788,AK225732,AL136545,BC022454,BC067733,BC094699,BC121821,BC134414,BC142972,BM668925,CD104154,CD673832,AL161913,AL356318,AL358786,AL391819,AL442645,AL592438,CH471089,NM_001007471,NM_206944,NM_020952,NM_206945,NM_024971,NM_206947,NM_206946,NM_206948,NM_001007470,AL159990 BAB13442,BAC55102,BAC55103,BAC55104,BAC55105,BAC55106,AAG42856,AAO49153,AAO49154,AAO49155,EAW62511,AAO49156,AAO49157,AAO49158,CAD43605,BAB13895,CAB66480,AAH22454,AAH67733,AAH94699,AAI21822,AAI34415,AAI42973,CAD43604,Q0D2F8,Q4VXD1,Q504Y1,Q5T2G1,Q5T8N2,Q5T8N7,Q5T8N8,Q6NW43,Q8TBK0,Q9H0X2,Q9H200,Q9HAF4,Q9HCF6,CAI96095,CAI96096,CAI96097,CAI96098,CAI96100,EAW62505,EAW62506,EAW62507,EAW62508,EAW62509,EAW62510,NP_001007472,NP_996827,NP_066003,NP_996828,NP_079247,NP_996830,NP_996829,NP_996831,NP_001007471 Hs.47288 GDB:11502001 GON-2|LTRPC3|MLSN2 protein-coding 1348019 TRPM4 transient receptor potential cation channel, subfamily M, member 4 1580863 18262493,17217063,16806463,16777713,16424899,16407466,16382100,16186107,15845551,15590641,15550671,15472118,15331675,15121803,14758478,14702039,12842017,12799367,12477932,12015988,11535825 54795 NM_017636,AC008891,CH471177,AF497623,AJ575813,AK000048,AK000235,AK292862,AY046396,AY297044,AY297045,AY297046,BC132727 NP_060106,EAW52460,EAW52461,EAW52462,EAW52463,AAM18083,CAE05941,BAA90907,BAF85551,AAL02142,AAP44473,AAP44474,AAP44475,AAI32728,Q8TD43 Hs.467101 GDB:11502003 FLJ20041|TRPM4B protein-coding 1321629 TRPM5 transient receptor potential cation channel, subfamily M, member 5 1580863 10607831,17217064,16382100,15731110,14657398,14634208,12477932,12368808 29850 NM_014555,AC124057,CH471158,AF177473,AJ270996,BC093787,BC093789 NP_055370,EAX02514,EAX02515,EAX02516,AAF26288,CAB66342,AAH93787,AAH93789,Q9NZQ8 Hs.272287 GDB:10451477 LTRPC5|MTR1 protein-coding 1320558 TRPM6 transient receptor potential cation channel, subfamily M, member 6 1580863,1599669 18301276,18192217,17217065,17098283,16636202,16382100,16150690,16075242,15164053,14976260,14576148,12032570,12032568,11357414,10021370,9373149,9285786,8125298 1599669 140803 AL354795,CH471089,AF350881,AF448232,NM_017662,AK000094,AK026281,AK057748,AK225207,AY333282,AY333283,AY333284,AY333285,AY333286,AY333287,AY333288,CR618713 NP_060132,CAH70893,CAH70894,CAH70895,EAW62553,EAW62554,EAW62555,EAW62556,EAW62557,EAW62558,EAW62559,EAW62560,EAW62561,EAW62562,EAW62563,AAK31202,AAM21562,BAA90941,BAB15429,BAB71558,AAR03487,AAR03488,AAR03489,AAR03490,AAR03491,AAR03492,AAR03493,Q5VYG5,Q96LV9,Q9BX84,Q9H637,Q9NXR9,AAI56138 Hs.272225 GDB:11502005 CHAK2|HMGX|HOMG|HOMG1|HSH protein-coding 1353386 TRPM7 transient receptor potential cation channel, subfamily M, member 7 TRPCs, mammalian homologs of the Drosophila transient receptor potential (trp) protein, are ion channels that are thought to mediate capacitative calcium entry into the cell. TRP-PLIK is a protein that is both an ion channel and a kinase. As a channel, it conducts calcium and monovalent cations to depolarize cells and increase intracellular calcium. As a kinase, it is capable of phosphorylating itself and other substrates. The kinase activity is necessary for channel function, as shown by its dependence on intracellular ATP and by the kinase mutants.[supplied by OMIM] 632429,1580863 18301276,18192217,18006838,17823441,17785843,17646711,17510191,17310095,17217066,17095511,16943238,16636202,16533898,16436382,16407977,16382100,16357306,16344560,16150690,16075242,16051700,15781465,15591230,15489334,15485879,15069188,14976260,14702039,14594813,12887921,12477932,11941371,11385574,11161216,10021370 632429 54822 NM_017672,AC084756,CH471082,AF346629,AK000124,AK075193,AK098584,AK172800,AY032950,BC051024,BC128987,BC128988,DB127039 NP_060142,EAW77405,EAW77406,EAW77407,EAW77408,EAW77409,AAK19738,BAA90958,BAC11462,BAD18773,AAK44211,AAH51024,Q96QT4 Hs.512894 GDB:11502007 CHAK|CHAK1|FLJ20117|FLJ25718|LTRPC7|TRP-PLIK protein-coding 732182 TRPM8 transient receptor potential cation channel, subfamily M, member 8 1580863 18094254,17604279,17521436,17517434,17510704,17428469,17426390,17217067,17142461,11325849,17065148,16382100,16174775,15961432,15950184,15947109,15492228,15489334,15306801,12858355,12477932,11893340 79054 NM_024080,AC005538,CH471063,AB061779,AY090109,AY328400,AY532375,AY532376,BC001135,BC033137,BC126342,DQ139309 NP_076985,EAW71067,EAW71068,BAB86335,AAM10446,AAP92167,AAS45275,AAS45276,AAH01135,AAI26343,AAZ73614,A0AVG2,Q3YFM7,Q7Z2W7 Hs.366053 GDB:11502009 LTRPC6|MGC2849|TRPP8 cold/menthol receptor 1 protein-coding 1323571 TRPS1 trichorhinophalangeal syndrome I This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. 1599670,1580863 10615131,17467349,17391059,17081983,16344560,16043716,14702039,14680804,12885770,12620233,11950061,11807863,11773701,11359471,11112658,10974077,8530105,2373110 1599670 7227 AF264784,AK000948,AK021470,AK021511,BC125020,CR591796,DA399687,NM_014112,AF178030,CH471060,AF183810 AAG21134,BAA91441,AAI25021,Q08AU2,Q9UHF7,NP_054831,EAW91952,AAF23614 Hs.657018 GDB:594960 GC79|MGC134928 protein-coding 1349455 TRPT1 tRNA phosphotransferase 1 16189514,15489334,14504659,12477932 83707 NM_031472,NM_001033678,AP005668,AP006334,CH471076,AK026364,AY211494,BC005133,CR591349,CR599436 NP_113660,NP_001028850,EAW74201,EAW74202,EAW74203,AAO62941,AAH05133,Q86TN4 Hs.326586 MGC11134 protein-coding 733197 TRPV1 transient receptor potential cation channel, subfamily V, member 1 Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. 634422,1580863 9349813,18267041,18230619,18076848,17927589,17913835,17659837,17626206,17596456,17582772,17567713,17560936,17521436,17508360,17508023,17442052,17442041,17428642,17392452,17385724,17347480,17217056,17184838,17176640,17109831,17074976,17018028,17016800,16996800,16842630,16793902,16777226,16406364,16382100,16381901,16319926,16301147,16099171,16081411,15992990,15793280,15708075,15691846,15685214,15644492,15574747,15489336,15306801,15190102,15066994,15051629,14996838,14987252,14630912,14554100,14523239,14520770,14506258,16996476,12812762,12808128,12765698,12721390,12573376,12490594,12477932,12454015,12393854,12194871,12077606,11884385,11549313,11358970,11243859,11230166,11226139,11124944,11076863,11050376,10725386 634422 7442 NM_080704,NM_018727,NM_080705,NM_080706,AC027796,AA700014,AF196175,AF196176,AF235160,AJ272063,AJ277028,AL136801,AY131289,AY986821,BC132820,BC136633,BF308801,DQ177332,DQ177333,DQ898279 NP_542435,NP_061197,NP_542436,NP_542437,AAG43466,AAG43467,AAN73432,CAB89866,CAB95729,CAB66735,AAM89472,AAX84657,AAI32821,AAI36634,ABA06605,ABA06606,ABI58280,Q09HS5,Q3LU46,Q3LU47,Q52PU4,Q8IZY9,Q8NER1,CAL38563 Hs.579217,Hs.655380 GDB:9754134 DKFZp434K0220|VR1 protein-coding 1346359 TRPV2 transient receptor potential cation channel, subfamily V, member 2 This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. 70055,1580863 10201375,17081065,16882997,16777226,16533525,16382100,15489334,15249591,14702039,12765698,12765693,12477932,12093812,12077606,10887936 70055 51393 A94121,AC093484,AX023769,CH471222,AF103906,AF129112,AJ487963,AK001896,AK289705,BC018926,BC051305,NM_016113 CAB70426,EAX04507,EAX04508,EAX04509,AAD41724,AAD26363,CAD32310,BAF82394,AAH18926,AAH51305,Q9Y5S1,ABM84533,NP_057197,ABM86071 Hs.279746 GDB:11501918 MGC12549|VRL|VRL-1|VRL1 protein-coding 1344610 TRPV3 transient receptor potential cation channel, subfamily V, member 3 This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member (TRPV1) gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. 1580863 17521436,16382100,14702039,12477932,12077606,12077604,12016205 162514 NM_145068,AC025125,AC027796,CH471108,AF514998,AJ487035,AK074032,AK127330,AK127726,AY118267,AY118268,BC104866,BC104868,BX537539,EU295940 NP_659505,EAW90502,EAW90503,EAW90504,EAW90505,AAM54027,CAD31711,BAB84858,AAM80558,AAM80559,AAI04867,AAI04869,ACA81614,Q2M3L1,Q8NET8,Q8TET8 Hs.446255 GDB:11508938 VRL3 protein-coding 1604803 TRPV4 transient receptor potential cation channel, subfamily V, member 4 This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Two transcript variants encoding different isoforms have been found for this gene. 12724311,16293632,11025659,15753126,18378772,18305162,18284852,17932042,17521436,17374521,17233610,17217058,16627472,16537379,16403833,16382100,16368742,15489334,15489228,15075247,14517216,12692122,12538589,12477932,12354759,12093812,12077606,11827975,11160995,11094154,11081638,10717675,15692563 59341 NM_147204,NM_021625,AC007834,CH471054,AB032427,AB073669,AB100308,AF258465,AF263523,AF279673,AJ296305,AL834192,BC117426,DQ059644,DQ059645,DQ059646 NP_671737,NP_067638,EAW97878,EAW97879,BAB69040,BAC06573,BAC55864,AAG16127,AAG28029,AAK69487,CAC82937,AAI17427,AAZ04918,AAZ04919,AAZ04920,Q9HBA0 Hs.506713 GDB:11501920 OTRPC4|TRP12|VR-OAC|VRL-2|VRL2|VROAC protein-coding 1350143 TRPV5 transient receptor potential cation channel, subfamily V, member 5 This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. 16564089,16382100,16291808,16239475,16189514,16044309,12765698,12690205,12660155,12477932,12390878,12198212,12093812,12077606,11846401,11765215,11719848,11549322,10945469,10944439,15665527,15489237,18077461,17233615,17217059,17018846 56302 NM_019841,AC073079,AC099652,AJ401155,AY206695,CH236959,CH471198,AF304464,AJ271207,AJ487965,BC034740 NP_062815,CAC08182,AAO13488,EAL23777,EAW51896,AAL04015,CAB96365,CAD32312,AAH34740,Q8N4C1,Q9H480,Q9NQA5 Hs.283369 GDB:10796320 CAT2|ECAC1|OTRPC3 protein-coding 731367 TRPV6 transient receptor potential cation channel, subfamily V, member 6 Calcium-permeable channels, such as TRPV6, participate in neurotransmission, muscle contraction, and exocytosis by providing calcium as an intracellular second messenger. Depending on the tissue, transcellular calcium transport may be regulated by vitamin D, parathyroid hormone (PTH; MIM 168450), or calcitonin (CALCA; MIM 114130).[supplied by OMIM] 1580863 15184369,11278579,18276610,18245667,17587679,17550901,17233615,17217060,17197020,17002582,16717058,16574738,16564089,16529812,16382100,16356545,16210335,16189514,15894168,15647288,15582993,15192090,15020691,14736889,14604453,14534305,12869611,12765698,12765696,12690205,12660155,12601087,12584203,12477932,12390878,12361955,12138163,12077606,12011062,11744752,11719848,11549322,11545681,11248124,11208552,11097838 55503 NM_018646,AC104597,AY030305,AY225461,CH236959,CH471198,AF304463,AF365927,AF365928,AJ243500,AJ243501,AJ277909,AJ487964,AK075103,AK075206,AK291707,AY203947,BC007094,BC017071,BC034814,CR600768,U82613,X83877 NP_061116,AAK50426,AAO38052,EAL23776,EAW51897,EAW51898,EAW51899,AAG41951,AAL40230,AAM00356,CAC20416,CAC20417,CAB92352,CAD32311,BAC11402,BAC11471,BAF84396,AAP34470,AAH34814,AAB40152,CAA58757,Q6XYC3,Q8NBV5,Q8NC07,Q9H1D0,Q9NXZ3,Q9Y260,AAI60161 Hs.302740,Hs.638966 GDB:11501734 ABP/ZF|CAT1|CATL|ECAC2|HSA277909|LP6728|ZFAB protein-coding 1348939 TRR4 tRNA arginine (CCG) 4 7233 GDB:6053723 1313479 TRRAP transformation/transcription domain-associated protein 9708738,11415895,11418595,10966108,9885574,17967892,17694078,16382133,16344560,16341205,16260778,15711126,15649435,15647280,15302935,14966270,14702039,12963728,12853948,12743606,12690205,12660246,12601814,12138177,12077335,11931763,11839798,11564863,11509179,11445536,11406595,10611234,10373431,12837248,12738788 8295 NM_003496,AC004893,AC004991,CH236956,CH471091,AF076974,AF110377,DA113420,AB209489 NP_003487,AAC62433,AAC27675,EAL23887,EAW76693,EAW76694,EAW76695,EAW76696,EAW76697,EAW76698,EAW76699,EAW76700,BAD92726,AAD09420,AAD04629,Q59FH1,Q9NVK6,Q9Y4A5 Hs.203952,Hs.706926 GDB:9954673 FLJ10671|PAF350/400|PAF400|STAF40|TR-AP|Tra1 protein-coding 1347105 TRSP transfer RNA selenocysteine/phosphoserine (opal suppressor) 3156131,1395717 7234 K02923 GDB:119618 tRNA(Sec) trna phosphoserine (opal suppressor) trna 733380 TRSPAP1 tRNA selenocysteine associated protein 1 16508009,16230358,14702039,12477932,10606267 54952 NR_003109,NM_017846,AL513497,CH471059,AF118082,AK000510,AK023555,BC000680,BC035855,BC039879,BI602122,BQ014404,CR606491 NP_060316,CAI22288,EAX07687,EAX07688,EAX07689,AAF22026,BAA91217,AAH00680,AAH39879,Q9NX07,Q9UHT1 Hs.533626 FLJ20503|PRO1902|RP4-669K10.4|SECP43 protein-coding 1348963 TRSPP1 tRNA phosphoserine (opal suppressor) pseudogene 1 3156131 7235 NG_000872,AL031595,K02924 GDB:119619 pseudo 1345339 TRT2 tRNA threonine (UGU) 2 7237 GDB:120459 1347971 TRT3 tRNA threonine (AGU) 3 1457046 7238 GDB:136389 1318307 TRUB1 TruB pseudouridine (psi) synthase homolog 1 (E. coli) Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM] 15489334,15164054,12736709,12477932,9373149,8125298 142940 NM_139169,AL355340,CH471066,AF448144,AK026721,AK125554,AK223567,BC030601,BX648479,BX648709 NP_631908,CAH73219,EAW49463,AAL40350,BAD97287,AAH30601,CAH10560,Q8WWH5,ABM81813,ABM84969 Hs.21187 GDB:11508080 PUS4 protein-coding 1346955 TRUB2 TruB pseudouridine (psi) synthase homolog 2 (E. coli) Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM] 1580863 15489334,15164053,14702039,12736709,12477932,9110174,8619474 26995 NM_015679,AL359091,CH471090,AF131848,AJ420462,AK001956,BC001457,CR601040,CR616104,CR618393,CR622527 NP_056494,CAI13485,EAW87770,EAW87771,EAW87772,EAW87773,AAD20059,BAA92001,AAH01457,O95900,ABM83082,ABM86277 Hs.632685 GDB:11508082 CLONE24922|RP11-339B21.1 protein-coding 1347207 TRV2 tRNA valine (CAC) 2 1457046 7240 GDB:136382 1344675 TRV3 tRNA valine (IAC), isoacceptor 3 1457046 7241 GDB:136390 1343325 TRVP1 tRNA valine (CAC) pseudogene 1 1457046 7242 GDB:136385 1352535 TRVP2 tRNA valine pseudogene 2 1457046 7243 GDB:136386 1348632 TRVP3 tRNA valine pseudogene 3 1457046 7244 GDB:136387 1345860 TRVP4 tRNA valine (AAC) pseudogene 4 1457046 7245 GDB:136388 1345720 TRW tRNA tryptophan 7246 GDB:287750 1606966 TRYX3 trypsin X3 This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. 14702039,12975309,12690205,12477932,8650574 136541 NM_001001317,NG_001333,CH236959,CH471198,AK122940,AY358487,BC035384 NP_001001317,EAL23772,EAW51980,EAW51981,AAQ88851,AAH35384,Q8IYP2 Hs.98609 FLJ16649|MGC35022|TRY1|UNQ2540 protein-coding 736947 TSC1 tuberous sclerosis 1 1624197,1625616,1624196,1580863 16909113,16897363,16554133,16339216,16258273,16211238,15963462,15798777,15647351,15624760,15595939,15477556,15324660,15072102,15059224,14985384,14756965,14680818,14633685,14559897,14551205,12894220,12853839,12820960,12773163,12773162,12773159,12766909,12477932,12271141,12176984,12167664,12112044,12062115,12015165,11829138,11774213,11741833,11686512,11444800,11307618,11112665,10607950,10570911,10533067,10227394,10585443,10806479,12226091,17308101,10915759,11175345,16996505,9580671,15314020,15589136,16636147,18342602,18032745,17997379,17717601,17522300,17378684,17376623,17355907,17304050,17287951,17273797,17114181,16940165,9924605,9809973,9328481,9242607,9039502 1624197,1625616,1624196 7248 NM_000368,NM_001008567,AF234185,AF274228,AF274229,AL445645,CH471090,AA215977,AB190910,AF013168,BC047772,BC070032,BC108668,BC121000,CR622174,D87683 NP_000359,NP_001008567,AAF61948,AAK60415,AAK60416,CAH72112,EAW88021,BAD91314,AAC51674,AAH47772,AAH70032,AAI08669,AAI21001,BAA13436,Q0VAM5,Q32NF0,Q59IT9,Q5VVN5,Q86WV8,Q92574,Q96RT3,Q96RT4 Hs.370854 GDB:120735 KIAA0243|LAM|MGC86987|TSC protein-coding 736193 TSC2 tuberous sclerosis 2 Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. 1304267,1580097,1580517,1580518,1580519,1580520,1580521,1625616,625610 9045618,9580671,10585443,12364343,8806680,16636147,17114346,15314020,15589136,18381890,18342602,18302728,18094073,18085521,18060739,18032745,17989114,17975002,17922028,17888633,17671177,17632432,17592551,17470459,17458623,17304050,17287951,17273797,17234746,17114181,17081983,17018601,16940165,16905638,16897363,16835931,16624901,16554133,16537497,16388022,16344560,16341938,16258273,16237225,16213898,16211238,16192644,16053916,15963462,15874888,15851513,15851026,15798777,15647351,15624760,15616553,15595939,15579767,17373211,11781698,11741833,11703097,11686512,11403047,11290735,11112665,10915759,10823953,10807585,10735580,10732801,10607950,10570911,10533067,10206124,10205261,10069705,10052455,9831664,9829910,9463313,9361032,9302281,8933518,8825048,8824881,8789450,8634701,8269512,7823706,7608212,7581393,7558029,1870099,1303246,17353931,15854902,11533041,11811958,15489334,15477556,15355997,15340059,15231735,15175323,15150271,15072102,15066998,15059224,15024740,14985384,14871804,14756965,14702039,14690447,14680818,14559897,14551205,12894220,12869586,12842888,12820960,12773163,12773162,12773159,12766909,12752578,12711473,12582162,12581886,12547695,12477932,12468542,12438239,12271141,12176984,12172553,12167664,12150915,12127687,12062115,12015165,11836366 1304267,1580097,1580517,1580518,1580519,1580520,1580521,1625616,625610 7249 NM_000548,NM_001077183,NG_005895,NM_001114382,AB014460,AC005600,AC093513,CH471112,L48522,L48531,L48537,L48538,L48542,L48546,AB210000,AK022401,AK094152,AK125096,BC025364,BC046929,BC150300,BF194994,BM966762,BX647816,CR601803,CR613640,DA316794,DB288276,S82474,X75621 NP_000539,NP_001070651,NP_001107854,BAA32694,AAC34210,EAW85556,EAW85557,EAW85558,EAW85559,EAW85560,AAB41564,BAE06082,AAH25364,AAH46929,AAI50301,CAI46010,AAB37376,CAA53287,P49815,Q4LE71,Q5HYF7 Hs.90303 GDB:120466 FLJ43106|LAM|TSC4 protein-coding 1604401 TSC22D1 TSC22 domain family, member 1 TSC22D1 encodes a transcription factor and belongs to the large family of early response genes.[supplied by OMIM] 9022669,18288391,17690703,17622752,16169070,16106424,15881652,15489334,14702039,12767908,12757981,12477932,12468551,12056414,11944908,11836610,11095965,10488076,9026990,8651929,1587811,17353931 8848 NM_183422,AF256226,AL138960,AL139184,AL356107,CH471075,AB082525,AJ222700,AK027071,AK091854,AK290751,BC000456,BC009528,BC016867,BC069207,BC105277,BC146664,BC146679,CB138090,CR456711,CR591418,CR594401,CR594575,CR595193,NM_006022,CR595498,CR597214,CR597685,CR599393,CR599750,CR601742,CR602104,CR603176,CR603525,CR604671,CR607766,CR607827,CR608707,CR609183,CR613638,CR615671,CR618349,CR619247,CR619287,CR620680,CR620970,CR624958,CR625079,CR627459,D38585,D87061,U35048 NP_006013,NP_904358,AAG53077,CAI12991,EAX08710,EAX08711,BAC02703,CAA10951,BAF83440,AAH00456,AAH16867,AAH69207,AAI05278,AAI46665,AAI46680,CAG32992,CAH10539,BAB46917,AAC50566,Q15714,Q6AHX5,Q6IBU1,Q8NCN1,BAA07598 Hs.507916 DKFZp686O19206|MGC17597|RP11-269C23.2|TGFB1I4|TSC22 protein-coding 1602336 TSC22D2 TSC22 domain family, member 2 15489334,12665801,12477932,9734811 9819 NM_014779,AC018545,CH471052,AB014569,AF201290,AF201291,AF201292,BC036355,BC044643 NP_055594,EAW78837,EAW78838,EAW78839,EAW78840,EAW78841,BAA31644,AAG41223,AAG41224,AAG41225,AAH44643,O75157 Hs.665220,Hs.708131 KIAA0669|TILZ4a|TILZ4b|TILZ4c protein-coding 1605734 TSC22D3 TSC22 domain family, member 3 The protein encoded by this gene shares significant sequence identity with the murine TSC-22 and Drosophila shs, both of which are leucine zipper proteins, that function as transcriptional regulators. The expression of this gene is stimulated by glucocorticoids and interleukin 10, and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid and chemokine. Transcript variants encoding different isoforms have been identified for this gene. 15705665,15489334,15031210,14702039,12671681,12477932,12393603,12391160,11688842,11468175,11397794,11313722,11230166,9110174,8619474,8982256,17956870,17356131,16216878,16189514 1831 CR593498,CR595272,CR599119,CR600468,CR602600,CR603530,CR615973,CR616584,CR617964,CR619339,CR622973,CR933650,Z50781,NM_198057,NM_004089,NM_001015881,AL590423,CH471120,AB025432,AF153603,AF183393,AF228339,AK092645,AK092669,AK127938,AL110191,AY007119,BC018148,BC072446,BM047061,BQ919216,BX647854,CR533450 CAG38481,CAI45951,CAA90644,Q5JRI9,Q5JRJ0,Q5JRJ1,Q5JRJ2,NP_932174,NP_004080,NP_001015881,CAI41541,CAI41542,CAI41543,CAI41544,EAX02704,EAX02705,EAX02706,EAX02707,EAX02708,BAB18680,AAD41085,AAD56234,AAG12456,BAC03934,CAB53669,AAH18148,AAH72446,Q99576 Hs.522074 GDB:6277700 DIP|DKFZp313A1123|DSIPI|GILZ|TSC-22R|hDIP protein-coding 1601955 TSC22D4 TSC22 domain family, member 4 TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM] 16189514,16713569,10488076,15489334,12690205,12508107,12477932,11707329 81628 NM_030935,AC092849,CH236956,CH471091,AJ133115,BC001486,BC001966,BC002972,BC010406,BC011974,BC031622,CR594978,CR595620,CR600230,CR606606,CR612991 NP_112197,EAL23831,EAW76527,EAW76528,EAW76531,CAB43491,AAH01486,AAH01966,AAH02972,AAH10406,AAH31622,Q8IV54,Q9Y3Q8,ABM82194,ABW03368 Hs.469798 THG-1 protein-coding 1354310 TSC3 tuberous sclerosis 3 7250 GDB:127930 1603298 TSEN2 tRNA splicing endonuclease 2 homolog (S. cerevisiae) tRNA splicing is a fundamental process required for cell growth and division. SEN2 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 15489334,15345747,15109492,14702039,12477932,12421765,9373149,8125298 80746 NM_025265,AC018500,AC090947,CH471055,AK027821,AK074794,AK225875,AK291183,BC004178,BC004211,BC019582,BC021975,CR611882 NP_079541,EAW64127,EAW64128,EAW64129,EAW64130,BAC11213,BAF83872,AAH04178,AAH04211,AAH19582,AAH21975,Q8NCE0 Hs.335550 MGC2776|MGC4440|SEN2|SEN2L protein-coding 1348893 TSEN34 tRNA splicing endonuclease 34 homolog (S. cerevisiae) tRNA splicing is a fundamental process required for cell growth and division. SEN34 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 9373149,8889548,8125298,10941842,15489334,15109492,14702039,12477932 79042 NM_024075,NM_001077446,AC012314,CH471135,CU151838,CU457734,AF211970,AK025929,AK054944,AK225385,AK226013,BC000944,BC004530,BC020805,BM977824,CR598135,CR600218,CR607949,CR619378,DB463309 NP_076980,NP_001070914,EAW72203,EAW72204,EAW72205,EAW72206,EAW72207,CAQ09596,CAP19124,BAB15284,AAH04530,AAH20805,Q9BSV6,ABM84262,ABM87651 Hs.15580 LENG5|SEN34|SEN34L leukocyte receptor cluster (lrc) member 5 protein-coding 1602635 TSEN54 tRNA splicing endonuclease 54 homolog (S. cerevisiae) tRNA splicing is a fundamental process required for cell growth and division. SEN54 is a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns, the first step in tRNA splicing (Paushkin et al., 2004 [PubMed 15109492]).[supplied by OMIM] 15489334,15109492,14702039,12477932 283989 NM_207346,AC100787,AK094466,AK097583,BC045551,BC047793,BC053643,BE247638,BE251582,BX424294,CV810347 NP_997229,BAC04362,AAH47793,AAH53643,Q7Z6J9 Hs.655875 FLJ37147|SEN54L|sen54 protein-coding 1346120 TSFM Ts translation elongation factor, mitochondrial Synthesis of the 13 mitochondrial-encoded proteins occurs on a dedicated mitochondrial translation apparatus similar to that found in prokaryotes and requires, in addition to the tRNAs and rRNAs encoded in mtDNA, the concerted action of several translation factors and a large number of mitochondrial ribosomal proteins, all of which are encoded by nuclear genes. The TSFM gene encodes a mitochondrial translation elongation factor (Smeitink et al., 2006 [PubMed 17033963]).[supplied by OMIM] 1580863 17033963,16632485,16583711,15489334,12477932,10965106,8889548,7615523,8643359 10102 NM_005726,AC025165,CH471054,AF110399,BC022862,BC093068,BM980630,CR592271,CR606259,CR622683,DB448773,L37936 NP_005717,EAW97075,EAW97076,EAW97077,EAW97078,AAD20224,AAH22862,AAH93068,AAC37577,P43897,Q561V7 Hs.632704 GDB:9955222 COXPD3|EF-TS|EF-Tsmt protein-coding 1349732 TSG101 tumor susceptibility gene 101 The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. 1600429,1580863,2291848,2291849,2291852,2291854,2291847,2291851,2291856 12101421,11838966,10888872,12029088,15033475,17350572,15611048,9241264,17940959,17853893,17606716,17556548,17428861,17369844,17321722,17229889,17182691,17110434,17060450,17014699,16707569,16571837,16552148,16407257,16344560,16256744,16189514,16138902,16004603,15908698,15858022,15657031,15509564,15489334,15256501,15240819,15218037,15143060,15126635,15053872,15039775,14991575,14761944,14581576,14581525,14526201,14519844,14505570,14505569,12927808,12915533,12900395,12900394,12802020,12743307,12725919,12663786,12598123,12559917,12505256,12477932,12388682,12379843,12205095,12006492,11943869,11916981,11805336,11726971,11595185,11427703,11172000,11134028,10508170,10440698,9840940,9465061,9366528,9242438,9241265,9019400,17083721,16470130,16940516,16808324,16571793,16234236,15795524,13679614,14722278 1600429,2291848,2291849,2291852,2291854,2291847,2291851,2291856 7251 AC027544,CH471064,NM_006292,AK130787,AU138453,AY207473,AY207474,BC002487,CR590335,CR590804,CR594582,CR596481,CR598203,CR604898,CR606222,CR617651,CR619803,CR621064,CR623726,U82130 NP_006283,EAW68381,EAW68382,EAW68383,EAW68384,EAW68385,EAW68386,AAO59169,AAO59170,AAH02487,AAC52083,Q86SI0,Q99816,ABM83718,ABM87038 Hs.523512 GDB:1313414 TSG10|VPS23 protein-coding 731470 TSGA10 testis specific, 10 1580863 11179690,18000009,16406020,16344560,16189514,15107545,12477932 80705 NM_025244,NM_182911,AC019097,AC092587,AC110083,CH471127,AF254756,AY014284,BC028366,BI562202,BX647157,DB085678,DC396566 NP_079520,NP_878915,AAY14820,EAX01888,EAX01889,EAX01890,EAX01891,EAX01892,AAK13079,AAK27309,AAH28366,Q9BZW7,ABM83039,ABM86233 Hs.120267 GDB:11502259 CEP4L protein-coding 1346501 TSGA10IP testis specific, 10 interacting protein 14702039,12477932 254187 NM_152762,AP006287,CH471076,AK057442,BC104021,BC104022,BC104023 NP_689975,EAW74473,BAB71488,AAI04022,AAI04023,AAI04024,Q3SY00 Hs.350671 FLJ32880|MGC120465|MGC120466|MGC120468 protein-coding 1314383 TSGA13 testis specific, 13 14962666,14702039,12690205,12477932 114960 NM_052933,AC009274,CH236950,CH471070,AF294347,AF431815,AK093329,BC038415 NP_443165,EAL24084,EAW83771,EAW83772,AAK97089,AAP97305,AAH38415,Q96PP4 Hs.592266 GDB:10796892 protein-coding 1346248 TSGA14 testis specific, 14 1580863 14654843,15489334,14702039,12690205,12477932,12034494 95681 NM_018718,AC007938,CH236950,CH471070,AF429308,AF429309,AJ278890,AK026098,AL359617,AY186739,BC018789,BC056162,CR604501 NP_061188,EAL24088,EAW83764,AAM43959,AAM43960,CAC33567,BAB15359,CAB94886,AAO31692,AAH56162,Q9BYV8 Hs.368315 GDB:10796893 Cep41|DKFZp762H1311 protein-coding 732605 TSHB thyroid stimulating hormone, beta 1580863,1624160 2792087,17954417,16216492,16133148,15489334,15297803,15292359,14671302,12477932,12364478,11788671,11549695,11297590,11140838,9589689,8670056,8636437,8196184,5002675,3839756,3243440,3234176,2558651,2457586,1971148,1692298,890569 1624160 7252 M25164,S70587,X02866,X02867,BC069298,NM_000549,AL109660,AY402762,CH471122,CQ873165,CS120870,M21024,M23669,M23670,M23671 AAB05845,AAA61235,AAB30828,CAA26618,CAA26619,AAH69298,P01222,Q5TES9,NP_000540,CAI22270,EAW56626,CAH56880,CAJ15134,AAA36782 Hs.406687 GDB:120467 TSH-BETA protein-coding 737021 TSHR thyroid stimulating hormone receptor 1580775,1580776,1580777,1580744,1580863 11549687,11517004,11502179,11442002,11434721,11201847,11128715,11127522,11095460,11081252,11081251,11022192,10946859,10870027,10852462,10809230,10720030,10651846,10595453,10560955,10487707,10199795,10037070,10037069,9854118,9837919,9589634,9525885,9398746,9360555,9349581,9329388,9294132,9253356,9185526,9100579,9062474,8964822,8954020,8770884,8747461,8636266,8496155,8413627,8327473,8188646,8045989,7989485,7800007,7647578,7565801,7556878,7528344,7508946,7488864,2610690,2558651,2302212,2293030,2249482,1955520,1697467,1651314,1570295,1530609,1445355,16189514,15775968,11716039,15345720,15319351,15297445,15163335,14759073,14725684,14654252,14633662,14576174,12960016,12933676,12930595,12813025,12804102,12790806,12788902,12762632,12727856,12709678,12668683,12629076,12593721,12589819,12558129,12477932,12432093,12383251,12242030,12240901,12223484,12213664,12081236,12050212,12045258,12039695,11981027,11923470,11923469,11917095,11887032,11847099,11814624,11716047,8552586,7920658,18390987,18379122,18162522,17953807,17938324,17902201,17803697,17697008,17696839,17570630,17526952,17521325,17456567,17408423,17408420,17392608,17079233,16955277,16899458,16756474,16756473,16756469,16513835,16320156,16150909,16106256,16060907,15911145,15889138,15879364,15779008,15741259,15531543,15498884,15384882 1580775,1580776,1580777,1580744 7253 NM_001018036,AB065589,AC007262,AC010072,AC010582,AL136040,CH471061,AB209207,AF035261,AY429111,BC009237,BC024205,BC063613,BC108653,BC120972,BC120973,BC127628,BC127629,BC141970,M31774,M32215,M73747,R51015,S45272,S49816,NM_000369,S82807 O43200,P16473,Q0VAP8,Q16503,Q4ZIL0,Q59GA2,Q8NH23,Q8TB90,Q96GT6,Q9P1V4,Q9ULA3,Q9UPH3,AAI56780,NP_000360,NP_001018046,BAC05818,AAD31568,AAF09032,AAF26775,EAW81333,BAD92444,AAB87990,AAR07906,AAH09237,AAH24205,AAH63613,AAI08654,AAI20973,AAI20974,AAI27629,AAI41971,AAA36783,AAA61236,AAA70232,AAB23390,AAB24246 Hs.160411 GDB:125313 LGR3|MGC75129|hTSHR-I thyroid stimulating hormone, receptor protein-coding 1354192 TSHRL1 thyroid stimulating hormone receptor-like 1 7254 GDB:120468 1344012 TSHRL2 thyroid stimulating hormone receptor-like 2 7255 GDB:120469 1346495 TSHRL3 thyroid stimulating hormone receptor-like 3 7256 GDB:120470 1323269 TSHZ1 teashirt zinc finger homeobox 1 This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. 17586487,14702039,12477932,9610721,9373149,8889548,8125298 10194 NM_005786,AC025105,AB210042,AF039698,AK127042,AK223545,AL833321,BC010679,BC024152,BU736177 NP_005777,BAE06124,AAC18047,BAC86800,BAD97265,AAH24152,Q6ZSZ6,AAI52773,AAI56589 Hs.284217 GDB:9955373 NY-CO-33|SDCCAG33|TSH1 protein-coding 1353516 TSHZ2 teashirt zinc finger homeobox 2 16344560,15561718,14702039,12477932,11780052,9671742 128553 AL121902,AL354772,AL354993,AL391097,BX276189,CH471077,AF230201,AK091206,NM_173485,AL050316,AL109930,BC114624,BX486483,BX640770,BX648148,DA647113 EAW75584,AAF76850,BAC03610,NP_775756,AAI14625,CAE45871,Q9NRE2 Hs.271605,Hs.473117 GDB:9864505 C20orf17|DKFZp686K2480|FLJ33887|OVC10-2|TSH2|ZABC2|ZNF218 protein-coding 1314877 TSHZ3 teashirt zinc finger homeobox 3 17081983,16381901,15489336,15146197,12477932,11230166,11076863,10819331 57616 NM_020856,AC025809,AB040907,AI015687,AK291466,AL136805,BC127095,BC127096,BX648745,CN256026,CR626691 CAL38448,NP_065907,BAA95998,BAF84155,CAB66739,AAI27096,AAI27097,CAH56184,Q0JSR6,Q63HK5 Hs.278436 KIAA1474|TSH3|ZNF537 zinc finger protein 537 protein-coding 1347301 TSIX X (inactive)-specific transcript, antisense In mammals, dosage compensation of genes on the X chromosome occurs by X inactivation, which is regulated in cis by the X-inactivation center (XIC) and expression of the XIST non-coding RNA. This gene expresses a non-coding antisense transcript across the 3' end of the XIST locus, and is coexpressed with XIST only from the inactive X chromosome. The mouse ortholog of this locus is required for imprinted X inactivation in extraembryonic tissues and silences Xist through modification of the chromatin structure in the Xist promoter region. In contrast, imprinted X inactivation does not occur in human extraembryonic tissues and transcripts from this locus do not repress XIST expression or affect random X chromosome inactivation in embryonic cells. This transcript is thought to be unspliced and extend over more than 30 kb, but its exact nature has not been determined. 12610550,12023758,11743158,11555794,10737800,10192391,7566098 9383 U80460,NR_003255,AL353804,AL356513,AL683895 GDB:9956142 miscrna 1602690 TSKS testis-specific kinase substrate This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. 15044604,15489334,12477932,11444856 60385 Q9UJT2 NM_021733,AC011495,AF200923,CH471177,AF411384,BC058862 NP_068379,AAF12819,EAW52534,AAL60464,AAH58862,Q9UJT2 Hs.515858 TSKS1 protein-coding 1601763 TSKU tsukushin 16303743,15489334,15231748,14702039,12975309,12477932,11085516 25987 NM_015516,AP003119,CH471076,AF191019,AK075476,AK091475,AK126536,AL110276,AY358317,BC020975,BT007440 NP_056331,EAW75005,EAW75006,EAW75007,AAF09483,CAB53711,AAQ88683,AAH20975,AAP36108,Q8WUA8 Hs.8361 E2IG4|LRRC54|TSK protein-coding 1604556 TSLP thymic stromal lymphopoietin This gene encodes a hemopoietic cytokine proposed to signal through a heterodimeric receptor complex composed of the thymic stromal lymphopoietin receptor and the IL-7R alpha chain. It mainly impacts myeloid cells and induces the release of T cell-attracting chemokines from monocytes and enhances the maturation of CD11c(+) dendritic cells. Alternative splicing of this gene results in two transcript variants. 18244952,18060034,17666213,17635955,17513717,17513456,17416344,17320941,17213320,16785889,15944327,15741223,14999427,12707303,12477932,12055625,11480573,11418668,10570284,16189514 85480 NM_033035,NM_138551,AC008572,CH471086,AF338732,AL833421,AY037115,BC016720,BC022894,BC040592,BU571002 NP_149024,NP_612561,EAW49037,EAW49038,AAK60617,AAK67490,AAH16720,AAH22894,AAH40592,Q969D9,Q96AU7 Hs.389874 protein-coding 1351634 TSN translin This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination-associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms. 1580863 7663511,16411762,16218753,15919079,15815621,15544804,15489334,15138261,15039555,14711818,14702039,12532453,12484770,12477932,11876655,11705401,11278549,11126370,10767349,10434033,9373149,9244443,9111049,9013868,8134113,8125298,7947454,11801738 7247 NM_004622,AC018737,CH471103,Y12563,AK091915,AK222868,AL122099,BC002359,BT019490,BT019491,X78627,X95076 NP_004613,AAY14831,EAW95262,EAW95263,CAA73150,BAD96588,AAH02359,AAV38297,AAV38298,CAA55341,Q15631,Q53GR3 Hs.75066 GDB:731978 BCLF-1|REHF-1|TRSLN protein-coding 1606429 TSNARE1 t-SNARE domain containing 1 14702039,12477932 203062 NM_145003,AC103758,AC129918,AC145290,CH471162,AK055726,BC065226,BC113556,BC126343 NP_659440,EAW82324,BAB70997,AAH65226,AAI13557,AAI26344,A0AVG3,Q14D03,Q6P186,Q96NA8 Hs.370931 FLJ31164|MGC142116 protein-coding 1346427 TSNAX translin-associated factor X This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. 1580863 9013868,17673452,16275808,16189514,15919079,15838535,15561718,15489334,14711818,14642810,12477932,12036294,11801738,11278549,11043515,10945471 7257 NM_005999,AF222988,AF271269,AL445524,AL626763,CH471098,BC010376,BC011797,BX537610,X95073 NP_005990,AAF91233,AAK58640,EAW69961,EAW69962,EAW69963,EAW69964,AAH10376,AAH11797,CAD97797,CAA64469,Q5VT41,Q5VVQ1,Q7Z3N9,Q99598,Q9NRI2 Hs.96247 GDB:5987001 TRAX protein-coding 1348366 TSNAXIP1 translin-associated factor X interacting protein 1 16344560,12477932,12036294 55815 AC040162,CH471092,AF132730,AK027245,BC035320,BC050693,BC051766,BC062628,NM_018430,BC111018,DA200633 NP_060900,EAW83169,EAW83170,EAW83171,EAW83172,EAW83173,EAW83174,EAW83175,EAW83176,EAW83177,AAF66441,AAH50693,AAI11019,Q2TAA8 Hs.632212 GDB:11510616 MGC111443|TXI1 protein-coding 1605685 TSP50 testes-specific protease 50 15491742,15489334,14702039,12477932,11782390,10397268 29122 NM_013270,AC134504,CH471055,CQ964262,AF100707,AK092598,AK097666,BC033016,BC037775 NP_037402,EAW64782,CAI30701,AAF22500,AAH33016,AAH37775,Q7RTY3,Q9UI38,ABW03298 Hs.120365 protein-coding 1354320 TSPAN1 tetraspanin 1 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 1580863 9714763,17913940,15489334,12477932,12115476,11739647,10719184 10103 NM_005727,AL672043,CH471059,AF054838,AF065388,AF133425,BC000695,BC007290,BC013404 NP_005718,CAH72468,EAX06938,EAX06939,EAX06940,EAX06941,AAC69714,AAC17119,AAF08364,AAH07290,AAH13404,O60635,Q5VST0 Hs.38972 9030418M05Rik|NET-1|RP11-322N21.1|TSPAN-1 protein-coding 1602455 TSPAN10 tetraspanin 10 16344560,14702039,12477932,12107410 83882 NM_031945,AC139530,CH471099,AF325213,AK096926,BC021923,BC032802,BG760374,DA912496 NP_114151,EAW89665,AAG42857,BAC04899,AAH21923,AAH32802,Q6PJ65,Q8N8E5,Q9H1Z9 Hs.208219 FLJ39607|OCSP protein-coding 1604416 TSPAN11 tetraspanin 11 12477932 441631 NM_001080509,AC008013,AC008150,BC127660,BC127661,BC146917,BC146922 NP_001073978,AAI27661,AAI27662,AAI46918,AAI46923,A1L157 Hs.653128 protein-coding 1322379 TSPAN12 tetraspanin 12 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 1580863 10719184,12975309,12853948,12690205,12477932,11739647,9847074 23554 NM_012338,AC004456,CH236947,CH471070,AF124522,AY358703,BC031265,BF338835,BI964728 NP_036470,AAQ96879,EAL24349,EAW83543,EAW83544,EAW83545,AAD17317,AAQ89066,AAH31265,O95859,Q8N5Y0,ABM84625 Hs.16529 NET-2|TM4SF12 transmembrane 4 superfamily member 12 protein-coding 1323423 TSPAN13 tetraspanin 13 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 1580863 10719184,17486367,17475971,16303743,15958618,15489334,14702039,12975309,12690205,12477932,11739647,10931946,8889548,27075 27075 NM_014399,AC073333,CH236948,CH471073,AF100759,AF120265,AK026587,AK075475,AK093487,AY358995,BC033863,CB852023,CR542107,CR591620,CR597593,CR598448,CR598804,CR600961,CR602288,CR610283,CR612419,CR612597,CR612760,CR614170 NP_055214,EAL24284,EAW93680,EAW93681,AAD43023,AAD17294,AAQ89354,AAH33863,CAG46904,O95857,Q6FGK0,ABM82985,ABM86178 Hs.364544 FLJ22934|NET-6|TM4SF13 transmembrane 4 superfamily member 13 protein-coding 1342494 TSPAN14 tetraspanin 14 737633,1580863 16303743,15489334,14702039,12477932,11230166 737633 81619 NM_030927,AC021028,CH471142,AF311903,AK025157,AK055330,AK074558,AL136638,BC002920,BC093016,CR612301 NP_112189,EAW80384,EAW80385,EAW80386,EAW80387,EAW80388,EAW80389,AAM94899,BAC11059,CAB66573,AAH02920,AAH93016,Q8NG11 Hs.310453 DC-TM4F2|MGC11352|TM4SF14 protein-coding 1351907 TSPAN15 tetraspanin 15 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. 1580863 10719184,15489334,12975309,12477932,12037680,11739647 23555 NM_012339,AC016821,CH471083,AF120266,BC003157,BC004161,BI457070,CR592571,CR606540,CR614566,CR621092,CR624920 NP_036471,EAW54326,EAW54327,AAD17295,AAH03157,AAH04161,O95858 Hs.499941 2700063A19Rik|NET-7|TM4SF15 protein-coding 1349307 TSPAN16 tetraspanin 16 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. 737633,1580863 10500248,12477932 737633 26526 NM_012466,AC011472,AC024575,AC098777,CH471106,BC029908 NP_036598,EAW84187,AAH29908,Q8N6J7,Q9UKR8 Hs.579784 TM-8|TM4-B|TM4SF16 protein-coding 1346680 TSPAN17 tetraspanin 17 17353931,10531035,14702039,12477932,11214971,10531037 26262 NM_012171,NM_001006616,NM_130465,AC091934,CH471195,AF174603,AK024427,AY037146,BC010405,BC067105,BI756001,BU624765,CR599209 NP_036303,NP_001006617,NP_569732,EAW85053,EAW85054,EAW85055,EAW85056,EAW85057,EAW85058,EAW85059,EAW85060,EAW85061,AAF04524,BAB15717,AAK67627,AAH10405,AAH67105,Q96FV3,Q9H7Q1 Hs.532129 FBX23|FBXO23|MGC14859|MGC71255|TM4SF17 transmembrane 4 superfamily member 17 protein-coding 1605907 TSPAN18 tetraspanin 18 16303743,14702039,12975309,12477932,11756464 90139 NM_130783,NM_001031730,AC092733,CH471064,AK027715,AK075547,AY358087,BC019342,BC033368 NP_570139,NP_001026900,EAW68058,EAW68059,EAW68060,EAW68061,EAW68062,BAB55318,BAC11690,AAQ88454,AAH19342,Q8WUV1,Q96SJ8 Hs.385634,Hs.638940 TSPAN protein-coding 1606713 TSPAN19 tetraspanin 19 16541075,14702039,8889548 144448 NM_001100917,AC025418,CH471054,AK126325,BX116902,CB852874,CB854430 NP_001094387,EAW97391,P0C672 Hs.156962 FLJ44351 protein-coding 1344307 TSPAN2 tetraspanin 2 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 1580863 9714763,16710414,15489334,14702039,11756464,11739647,12477932 10100 NM_005725,AL109660,CH471122,CQ834272,AF054839,AK022144,BC021675,BG697236,BQ067895 NP_005716,CAI22271,CAI22272,CAI22273,EAW56627,CAH05351,AAC69715,AAH21675,O60636,ABM84616,ABM84617,ABM84618,ABM84619,ABW03588 Hs.310458 6330415F13Rik|FLJ12082|RP4-666F24.2|TSN2|TSPAN-2 protein-coding 1602131 TSPAN3 tetraspanin 3 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described. 9714763,16303743,16189514,15489334,14702039,12477932,11739647,1840594 10099 NM_005724,AC090181,CH471136,AF054840,AF133423,AK001305,NM_198902,CR605322,CR607094,CR607633,CR609168,CR609189,CR613227,CR614268,CR619401,CR620957,CR621960,CR622572,CR625746,M69023,CR598993,CR604332,AK001310,AK001326,AK027793,AK075336,AK075482,BC000704,BC004280,BC009248,BC011206,CR592346,CR593647,CR597854,CR598055 NP_944492,NP_005715,EAW99209,EAW99210,EAW99211,AAC69716,AAF08362,BAA91613,O60637,BAA91615,BAA91627,AAH00704,AAH04280,AAH09248,AAH11206 Hs.5062 TM4-A|TM4SF8|TSPAN-3 protein-coding 1320454 TSPAN31 tetraspanin 31 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. 1580863 8134123,15489334,15024701,14702039,12477932,11337467,10101594,9989829,9192850,7789984,7531445,1661131 6302 NM_005981,NG_007484,AC025165,CH471054,S78432,U81031,AA811975,AB209699,AK090502,AU098749,BC010377,BX647402,CR407647,CR592832,CR616737,CR623983,U01160 NP_005972,EAW97054,EAW97055,EAW97056,EAW97057,AAD14281,AAC39524,BAD92936,AAH10377,CAG28575,AAA17782,Q12999,Q53X76,Q59EW2,ABM83803,ABM87126 Hs.632708 GDB:128054 SAS protein-coding 1318659 TSPAN32 tetraspanin 32 This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. 1580863 10950922,15489334,14759258,12477932,11718897,10915772,10072438,9403053,8469989 10077 NM_139022,NM_005705,AC129929,CH471158,AA701395,AF125569,AF176070,AF176071,AK128812,AK307638,AK310116,AY039001,AY303780,BC016693,BG506933,CR606621 NP_620591,NP_005696,EAX02498,EAX02499,EAX02500,EAX02501,EAX02502,EAX02503,EAX02504,EAX02505,AAD23580,AAG15840,AAG15841,BAC87619,AAK84431,AAP76185,AAH16693,Q6ZQR4,Q7Z5M9,Q96QS1 Hs.271954 GDB:9954971 FLJ17158|FLJ97586|MGC22455|PHEMX|PHMX|TSSC6 protein-coding 1604171 TSPAN33 tetraspanin 33 17158226,16242907,16213355,15489334,12690205,12477932 340348 NM_178562,AC011005,CH236950,CH471070,AF276891,AK000208,AY236849,BC044244,CR609044 AAH44244,NP_848657,EAL24103,EAW83712,EAW83713,EAW83714,AAQ14314,AAO91940,Q86UF1 Hs.27267 MGC50844|PEN protein-coding 1314069 TSPAN4 tetraspanin 4 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 9360996,16341674,15489334,14702039,14671302,12477932,11739647,11591653,10741407,10734060,10229664,9714763,16189514 7106 NM_003271,NM_001025239,NM_001025238,NM_001025236,NM_001025235,NM_001025234,NM_001025237,AP006623,AY415329,CH471158,AF022813,AF054841,AK054788,AK095212,AK126456,AK291089,AL543667,AW204812,BC000389,BC019314,BC093031,BF530006,BG752017,BI820547,BM555783,BM755435,BQ679002,BT006776,CR457108 NP_003262,NP_001020410,NP_001020409,NP_001020407,NP_001020406,NP_001020405,NP_001020408,EAX02409,EAX02410,EAX02411,AAC51864,AAC69717,BAC86557,BAF83778,AAH00389,AAH19314,AAH93031,AAP35422,CAG33389,O14817,Q6ZTM9 Hs.654836 GDB:9848855 NAG-2|NAG2|TETRASPAN|TM4SF7|TSPAN-4 transmembrane 4 superfamily member 7 protein-coding 1602132 TSPAN5 tetraspanin 5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 15489334,14702039,12477932,11739647,10719184,9714763 10098 CH471057,AF065389,AK055659,AK126702,BC009704,CR541809,CR541829,NM_005723,AC058823,AC074120,AC108159,AC114811,AF053455 EAX06074,AAC17120,BAC86650,AAH09704,CAG46608,CAG46628,P62079,Q6FHC5,Q6ZTE1,NP_005714,AAC69712 Hs.591706 NET-4|TM4SF9|TSPAN-5 protein-coding 1347181 TSPAN6 tetraspanin 6 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2. The use of alternate polyadenylation sites has been found for this gene. 1580863 12761501,16303743,15772651,15489334,12975309,12477932,11739647,9782095,9714763 7105 AB209876,AF043906,AF053453,AF133426,AK075072,AY358825,BC012389,BT006977,CR457115,CR597714,CR598712,CR598720,CR604634,U84895,NM_003270,AL035608,CH471115,AB097016 BAC77369,BAD93113,AAC64257,AAC69710,AAF08365,AAQ89184,AAH12389,AAP35623,CAG33396,AAD00560,O43657,Q54A42,Q59ED5,Q6IAN9,ABM81594,NP_003261,EAX02809,EAX02810,EAX02811,ABM84775 Hs.43233 GDB:9836959 T245|TM4SF6|TSPAN-6 transmembrane 4 superfamily member 6 protein-coding 1352570 TSPAN7 tetraspanin 7 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. 1580863 8420826,10617319,15489334,14735593,12777533,12477932,12070254,11739647,11387256,11161835,10655063,10449641,10229664,8325628,8168850,7768645,17353931 7102 AB102505,BC018036,CR591325,CR592323,CR592630,CR593575,CR593720,CR594487,CR597746,CR598598,CR601223,CR601568,CR602586,CR602890,CR604054,CR605008,CR605058,CR605223,CR607095,CR607558,CR609362,CR610848,CR613148,CR614151,CR617607,CR621497,CR624425,CR626412,D10653,D29808,DB475293,L10373,AB102413,AB102414,AB102415,AB102416,AB102417,AB102418,AB102419,AB102420,AB102461,AB102665,AB102462,AB102463,AB102464,AB102465,AB102466,AB102467,AB102468,AB102469,AB102470,AB102471,AB102472,AB102473,AB102474,AB102475,AB102476,AB102477,AB102478,AB102479,NM_004615,AB102401,AB102402,AB102403,AB102404,AB102405,AB102406,AB102407,AB102408,AB102409,AB102410,AB102411,AB102412,AB102480,AB102491,AB102492,AB102493,AB102494,AB102495,AB102496,AB102497,AB102498,AB102499,AB102506,AB102507,AB102508,AB102509,AB102510,AB102521,AB102522,AB102523,AB102524,AB102525,AB102526,AB102527,AB102528,AB102529,AB102530,AB102531,AB102532,AB102533,AB102534,AB102535,AB102536,AB102537,AB102538,AB102539,AB102540,AF241726,AF241727,AJ250562,CH471141,AA757687,AB062057,AB102500,AB102501,AB102502,AB102503,AB102504 BAC81134,AAH18036,BAA01501,BAA06191,P41732,Q7Z2D9,Q7Z2E9,Q7Z2I5,Q7Z2J5,BAC80911,BAC80912,BAC80913,BAC80914,BAC80915,BAC80916,BAC80917,BAC80918,BAC80919,BAC80930,BAC80931,BAC80932,BAC80933,BAC80934,BAC80935,BAC80936,BAC80937,BAC80938,BAC80939,BAC80940,BAC80941,BAC80942,BAC80943,BAC80944,BAC80945,BAC80946,BAC80947,BAC80948,NP_004606,BAC80900,BAC80901,BAC80902,BAC80903,BAC80904,BAC80905,BAC80906,BAC80907,BAC80908,BAC80909,BAC80910,BAC80949,BAC80960,BAC80961,BAC80962,BAC80963,BAC80964,BAC80965,BAC80966,BAC80967,BAC80974,BAC80975,BAC80976,BAC80977,BAC80978,BAC80979,BAC80990,BAC80991,BAC80992,BAC80993,BAC80994,BAC80995,BAC80996,BAC80997,BAC80998,BAC80999,BAC81000,BAC81001,BAC81002,BAC81003,BAC81004,BAC81005,BAC81006,BAC81007,BAC81008,BAC81009,CAB65594,EAW59437,EAW59438,BAB55824,BAB55825,BAC80968,BAC80969,BAC80970,BAC80971,BAC80972,BAC80973,ABM83019,ABM86497,Q7Z3Z6 Hs.441664 GDB:202921 A15|CCG-B7|CD231|DXS1692E|MRX58|MXS1|TALLA-1|TM4SF2|TM4SF2b transmembrane 4 superfamily member 2 protein-coding 736010 TSPAN8 tetraspanin 8 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. 1580863 2395876,8661157,18317468,17579117,15489334,12939584,12477932,11739647,11690710,10229664,9373149,8125298 7103 NM_004616,AC025575,CH471054,AK223022,BC005246,BC070168,M35252 NP_004607,EAW97257,BAD96742,AAH05246,AAA35709,P19075,Q53GA9 Hs.170563 GDB:9113496 CO-029|TM4SF3 transmembrane 4 superfamily member 3 protein-coding 1602896 TSPAN9 tetraspanin 9 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. 10719184,15489334,12477932,11739647,9373149,8125298 10867 AC005865,AC005912,AC125807,CH471116,AF089749,AF217967,AK027366,AK223179,NM_006675,AW025505,AY523992,BC034280,BC071881,CR542109,CR612167 NP_006666,EAW88867,EAW88868,EAW88869,AAC35859,AAG17210,BAD96899,AAT01541,AAH34280,AAH71881,CAG46906,O75954,Q53FV2,Q6FGJ8,Q9HBT2 Hs.504517 NET-5|PP1057 protein-coding 737564 TSPO translocator protein (18kDa) Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1358442,1580863 12374690,11304832,11215759,10591208,9915832,9027587,8121239,7721091,3018615,1847678,1654492,7626442,8307574,1326278,16822554,18256758,18158327,18054208,17561806,16919618,16868661,16511838,16189298,15769477,15648546,15489334,15473257,15461802,15296476,15041726,14688214,14626449,14584048,12547158,12477932 1358442 706 NM_000714,NM_007311,AB076379,AB076380,AB076381,AY383615,CH471138,L21951,L21954,U12421,Z82214,AF075589,AF075590,AY998017,BC001110,BQ057964,BT006949,CR456409,CR457007,CR590116,CR607955,CR609727,CR617902,CR619651,CR621254,L21950,M36035 NP_000705,NP_009295,BAC00957,BAC00958,BAC00959,AAQ75703,EAW73288,EAW73289,EAW73290,AAA18228,AAA83252,CAB55884,AAC31172,AAC31173,AAY45787,AAH01110,AAP35595,CAG30295,CAG33288,AAA18227,AAA03652,O76068,P30536,Q13849,Q13850,Q53Y59,Q6IAZ7,Q6ICF9,Q8N167,Q8N730,ABM81639 Hs.202 GDB:127347 BZRP|DBI|IBP|MBR|PBR|PKBS|PTBR|mDRC|pk18 benzodiazepin receptor protein-coding 1351486 TSPY1 testis specific protein, Y-linked 1 1580863 3479749,8923009,1284595,17521702,17509197,17234369,16996029,16762081,16618725,16456896,16426576,16132697,16035036,15948118,15273283,15037423,14981720,14702039,14684991,12815422,12773407,12527192,12477932,11173850,11173833,10773691,10747295,10090875,9730615,9678360,9533010,8798990,8244388,7849736,1765369 7258 NM_003308,AC006156,M94892,X06325,AI002165,M94893,M98525,U58096 NP_003299,CAA29640,AAA61238,AAA36570,AAB51693,Q01534 Hs.556121,Hs.571766,Hs.592352,Hs.647493 DYS14|TSPY|pJA923 protein-coding 1348859 TSPY2 testis specific protein, Y-linked 2 12477932,10773691 64591 NM_022573,AC006335,AF106331 NP_072095,AAD47421,Q0VAD3,AAI48426 Hs.646249 MGC103998|TSPYQ1 protein-coding 1348944 TSPYL1 TSPY-like 1 1599672,1580863 11256614,16952470,16418600,15489334,15273283,14702039,12477932,12429849,11230166,9730615 1599672 7259 NM_003309,AL050331,CH471051,AF042181,AI861791,AJ420580,AK026849,AK096882,AL136629,BC048969,BC068554,CB126996,CR533535,CR625543 NP_003300,CAB55883,EAW48232,AAC62384,BAC04882,CAB66564,AAH48969,CAG38566,Q5TFE6,Q6FI91,Q6NUK6,Q8N8G1,Q9H0U9 Hs.458358,Hs.486292 TSPYL protein-coding 1346364 TSPYL2 TSPY-like 2 1580863 11395479,17317670,17069459,16713569,16381901,16079131,15489336,15066269,12477932,11318608,11230166,11149944,11076863 64061 NM_022117,BX322635,CH471154,AB015345,AB209182,AF254794,AF273046,AK131220,AK292462,AL713652,AY040871,BC001566,BC024270 NP_071400,EAW93143,EAW93144,BAA34802,BAD92419,AAG53596,AAG34906,BAF85151,CAD28461,AAK72407,AAH01566,AAH24270,Q59GC7,Q9H2G4,CAL37594 Hs.136164 CDA1|CINAP|CTCL|DENTT|HRIHFB2216|SE20-4 protein-coding 1603270 TSPYL3 TSPY-like 3 (pseudogene) 15489334,12477932,11780052 128854 NR_002781,AL121897,BC101556,BC101558 AAI01557,AAI01559,Q9H489 Hs.647447 GDB:11508084 MGC126605|MGC126607|bA392M18.1 pseudo 1315389 TSPYL4 TSPY-like 4 16189514,15489334,14702039,14574404,12477932,12421765,9872452 23270 NM_021648,AL050331,CH471051,AB018264,AJ420569,AK091559,AL134793,AL137639,BC009116,BC040453,CR603581 NP_067680,CAB55881,EAW48235,BAA34441,CAH10705,AAH09116,Q5TFE7,Q69YV8,Q9UJ04 Hs.284141 KIAA0721|dJ486I3.2 protein-coding 1322624 TSPYL5 TSPY-like 5 737633 18059362,14702039,12477932,11214970 737633 85453 NM_033512,AP003113,AP003115,CH471060,AB051537,AK091445,AK092272,AL080059,BC045630 NP_277047,EAW91759,BAB21841,AAH45630,Q86VY4 Hs.173094 KIAA1750 protein-coding 1603148 TSPYL6 TSPY-like 6 16344560,12477932 388951 NM_001003937,AC073879,CH471053,AK097417,AL117628,BC068576,DB073493 NP_001003937,EAX00158,BAC05043,AAH68576,Q8N831 Hs.620508 DKFZp434B125 protein-coding 1350482 TSPYP1 testis specific protein, Y-linked pseudogene 1 12815422,9847074 347584 NG_003077,AC006335 pseudo 1347702 TSPYP2 testis specific protein, Y-linked pseudogene 2 12815422,9847074 377997 NG_003078,AC007274 pseudo 1347788 TSPYP3 testis specific protein, Y-linked pseudogene 3 12815422,9847074 378001 NG_003079,AC006986 pseudo 1604156 TSPYP4 testis specific protein, Y-linked pseudogene 4 12815422,9847074 378013 NG_004832,AC010141 pseudo 1349041 TSPYP5 testis specific protein, Y-linked pseudogene 5 12815422,9847074 379027 NG_003093,AC006987 pseudo 2292189 TSPYP6 testis specific protein, Y-linked pseudogene 6 653174 XR_016233 pseudo 2292187 TSPYP7 testis specific protein, Y-linked pseudogene 7 653288 XR_038447 pseudo 1603994 TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 17353931,14702039,7791754,12477932,10718198 55720 NM_018128,AL450226,CH471108,AB037822,AK001396,AK026565,BC019090,BC110851,BC126110,CR619119 NP_060598,EAW90548,EAW90549,EAW90550,EAW90551,EAW90552,BAA92639,BAA91667,AAH19090,AAI10852,AAI26111,Q2NL82 Hs.388170 FLJ10534|KIAA1401|MGC131829 protein-coding 1602842 TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 16189514,12477932,9417904 90121 NM_058163,CH471154,Z85987,BC007699,BC011825,CR594539,CR599852,CR619596,CR622248,U92980 NP_477511,EAW93177,EAW93178,CAI42223,AAH07699,AAH11825,Q969E8 Hs.522662 DT1P1A10|MGC20451|RP1-112K5.2 protein-coding 1314080 TSSC1 tumor suppressing subtransferable candidate 1 This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene may reside on chromosome 2 rather than chromosome 11. 17353931,15815621,15489334,12477932,9925925,9403053,9373149,8125298 7260 CR608131,NM_003310,AC019118,AC073502,CH471053,AF019952,AK026522,AK126288,AK222652,BC002485,CR592052,CR594330,CR594856,CR595759,CR597871,CR600135,CR601008,CR603500,CR607271,CR619999,CR621784,CR622340,CR625073,CR626366 ABM83619,NP_003301,AAY24338,AAY24193,EAX01070,EAX01071,AAC51911,BAD96372,AAH02485,Q53HC9,ABM86862 Hs.502770 GDB:9838259 protein-coding 1348033 TSSC2 tumor suppressing subtransferable candidate 2 9403053 7261 GDB:9838260 1316004 TSSC4 tumor suppressing subtransferable candidate 4 This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. 17081983,15489334,15302935,12477932,10915772,10072438 10078 Q9Y5U2 CR625385,CR626026,CR626346,NM_005706,AC124057,CH471158,AF125568,BC006091,BC050616,CR594750,CR612628,CR624914 Q9Y5U2,NP_005697,EAX02510,EAX02511,EAX02512,EAX02513,AAD23579,AAH06091,AAH50616 Hs.523424 GDB:9954973 protein-coding 1353960 TSSK1A testis-specific serine kinase 1A pseudogene 1580863 15733851,15489334,15044604,11264466,10591208,8776594,9412477 23752 NG_004670,AC004471,L77570 Q9BXA7 GDB:10795343 SPOGA1|STK22A|TSSK1|TSSK1b|TSSK7P serine/threonine kinase 22a (spermiogenesis associated) pseudo 1605025 TSSK1B testis-specific serine kinase 1B TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM] 15761153,15044604,14702039,12556502,12477932,16189514 83942 NM_032028,AB284522,AC010431,CH471086,AF348076,AK122904,AY028964,BC022515 NP_114417,BAF41973,EAW48983,AAK29413,AAK27734,AAH22515,ABM84574,ABM86529 Hs.519507,Hs.701555 GDB:11508709 FKSG81|SPOGA4|STK22D|TSSK1 protein-coding 1606567 TSSK2 testis-specific serine kinase 2 TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM] 15044604,15489334,15461802,12477932,11591653,10591208,9412477,8776594 23617 NM_053006,AC004471,AF362953,BC037781,CR456587,L77564 NP_443732,AAK98531,AAH37781,CAG30473,Q96PF2 Hs.517407,Hs.707311 GDB:10795345 DGS-G|FLJ38613|SPOGA2|STK22B protein-coding 1347200 TSSK3 testis-specific serine kinase 3 This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. 1580863 16336268,15761153,15489334,12477932,11597141 81629 NM_052841,AL109945,CH471059,AF296450,BC035354,BF509953,AY048701 NP_443073,CAI22888,EAX07531,EAX07532,AAK97141,AAH35354,Q5TEE5,Q96PN8,AAL02128,ABM82252,ABM85436 Hs.512763 GDB:11508483 SPOGA3|STK22C|STK22D serine/threonine kinase 22c (spermiogenesis associated) protein-coding 1345321 TSSK4 testis-specific serine kinase 4 TSSK4 belongs to a family of serine/threonine kinases highly expressed in testis (Chen et al., 2005 [PubMed 15964553]).[supplied by OMIM] 15964553,15761153,15489334,14702039,12477932 283629 NM_174944,AL136295,CH471078,AF542390,AK131042,AY461663,BC029918,BC111088 NP_777604,EAW66069,EAW66070,EAW66071,AAN62841,BAC85482,AAS17971,AAI11089,Q6SA08,Q8IZN1 Hs.314432 C14orf20|MGC133264|STK22E|TSSK5 chromosome 14 open reading frame 20 protein-coding 1605019 TSSK6 testis-specific serine kinase 6 TSSK6 is a serine/threonine protein kinase that is required for postmeiotic chromatin remodeling and male fertility (Spiridonov et al., 2005 [PubMed 15870294]).[supplied by OMIM] 15870294,15964553,15489334,15044604,14702039,12477932 83983 NM_032037,AC011448,CH471106,AF329483,AF348077,AK058166,AK172841,BC014611 NP_114426,EAW84824,EAW84825,AAK48827,AAK29414,BAB71697,BAD18805,AAH14611,Q9BXA6,ABM82529,ABM85723 Hs.532711 FLJ24002|SSTK|TSSK4 protein-coding 735470 TST thiosulfate sulfurtransferase (rhodanese) The product of this gene is a mitochondrial matrix enzyme that is encoded by the nucleus. It may play roles in cyanide detoxification, the formation of iron-sulfur proteins, and the modification of sulfur-containing enzymes. The gene product contains two highly conservative domains (rhodanese homology domains), suggesting these domains have a common evolutionary origin. 1580863 1451437,986188,9070219,1953758,17035239,15910006,15489334,15461802,14702039,12962704,12665801,12477932,11788560,11112515,10591208,9373149,8340386,8125298,6588145,6402020,3479705,3471602,2817794,2006499 7263 NM_003312,CH471095,Z73420,AK000862,AK091874,AK223521,BC010148,BI820468,CR456598,CR456998,CR594857,D87292 CAK54928,NP_003303,EAW60132,CAA97762,BAD97241,AAH10148,CAG30484,CAG33279,BAA13327,Q16762,Q53EW8,Q6IB06,CAK54629 Hs.474783 GDB:134043 MGC19578|RDS thiosulfate sulfurtransferase protein-coding 1346117 TSTA1 tissue specific transplantation antigen 1 94020 GDB:9837212 1354075 TSTA2 tissue specific transplantation antigen 2 94019 GDB:9837213 1315979 TSTA3 tissue specific transplantation antigen P35B Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. 1580863 11698403,8910301,9525924,15489334,14702039,12477932,7803801,1348494 7264 NM_003313,AC067930,CH471162,AK096752,BC001941,BC093061,CR594900,CR615707,CR617801,CR624941,U58766 NP_003304,EAW82217,EAW82218,EAW82219,EAW82220,EAW82221,EAW82222,AAH01941,AAH93061,AAC50786,Q13630 Hs.404119 GDB:9837214 FX|P35B protein-coding 1350960 TTBK1 tau tubulin kinase 1 11347906,15489334,14702039,14574404,12477932,7556643,17353931 84630 NM_032538,AL133375,CH471081,AB058758,AB218664,AK055425,AK131217,AL833256,BC036764 NP_115927,CAI20206,EAX04167,EAX04168,EAX04169,BAB47484,BAE78660,BAD18405,AAH36764,Q5TCY1,Q9H6N8,AAI56453 Hs.485436 BDTK|KIAA1855|RP3-330M21.4 protein-coding 1347811 TTBK2 tau tubulin kinase 2 1580863 18037885,15489334,15148151,14702039,12477932,12434312,10417284,10048485,8889548,17353931 146057 NM_173500,AC068727,AC090510,AC090514,CH471125,AB020654,AF525400,AK131372,BC041876,BC071556,CB242184,CR611465,CR615164 NP_775771,EAW92581,EAW92582,EAW92583,BAA74870,AAO14996,BAD18523,AAH41876,AAH71556,Q6IQ55,Q8IWY7 Hs.659846,Hs.707370 KIAA0847|SCA11|TTBK protein-coding 1345432 TTC1 tetratricopeptide repeat domain 1 1580863 15761153,9373149,8836031,16189514,15489334,14503850,12748287,12477932,8125298 7265 NM_003314,AC008706,AC068657,CH471062,AK222641,AK222984,BC000942,CR598190,CR604893,CR609532,CR625510,U46570 NP_003305,EAW61570,EAW61571,BAD96361,BAD96704,AAH00942,AAB36871,Q53GE7,Q53HD9,Q99614,ABM81919,ABM85097 Hs.519718 GDB:9773277 TPR1 protein-coding 1347109 TTC12 tetratricopeptide repeat domain 12 1580863 17761687,17657212,17085484,16344560,15489334,14702039,12964006,12477932,9373149,8125298 54970 NM_017868,AP000880,AP002840,CH471065,EF445041,AK000542,AK023921,AK091887,AK125909,AK223117,AK292331,BC011546,BC019086,BC032355,DB110945 NP_060338,EAW67210,EAW67211,EAW67212,EAW67213,EAW67214,ACA06092,ACA06093,BAA91242,BAB14725,BAC86340,BAD96837,BAF85020,AAH32355,Q53G14,Q6ZU86,Q9H892 Hs.288772 FLJ13859|FLJ20535|TPARM protein-coding 1320938 TTC13 tetratricopeptide repeat domain 13 1580863 16344560,16303743,15489334,14702039,12477932 79573 NM_024525,NM_001122835,AL591292,AL844165,CH471098,CS051183,AK026237,AK074365,AK075386,AK075561,AL832286,AL834453,AW613930,BC042683,BC047662,BC110880,DA752300 NP_078801,NP_001116307,CAI15330,CAI15331,EAW69929,EAW69930,EAW69931,EAW69932,EAW69933,CAI72087,BAB15407,BAC11586,BAC11700,CAH10599,CAD39113,AAH42683,Q5SPU9,Q5SPV5,Q69YR0,Q8NBP0,Q9H659 Hs.424788 FLJ22584 protein-coding 1320720 TTC14 tetratricopeptide repeat domain 14 737633,1580863 16344560,16189514,15489334,14702039,12975309,12477932,11853319 737633 151613 NM_001042601,NM_133462,AC068298,CH471052,AB075860,AI742462,AK055984,AL832052,AL832310,AL833086,AL833103,AY358762,BC027990,BX648669,DA283647,CR623166 NP_001036066,NP_597719,EAW78376,EAW78377,EAW78378,BAB85566,BAB71064,CAH10404,CAD89930,AAQ89122,AAH27990,Q69YS0,Q86TA5,Q8TEM7,Q96N46 Hs.43213 DKFZp313M1015|DRDL5813|FLJ00166|KIAA1980|PRO19630 protein-coding 1343529 TTC15 tetratricopeptide repeat domain 15 737633,1580863 15489334,14702039,12477932,10810093 737633 51112 AF151845,AK094181,AK094242,AK098327,AK125105,AL390132,BC014164,BC017475,BQ954367,BU782660,CR607934,NM_016030,AC073502,AC114810,CH471053 EAX01068,EAX01069,AAD34082,BAC04301,CAH10664,AAH14164,AAH17475,Q53QD4,Q53S18,Q69YU1,Q8N9N0,Q8WVT3,NP_057114,AAY24194,AAY24021,EAX01067 Hs.252713 CGI-87|DKFZp547E107|FLJ36862 protein-coding 1321657 TTC16 tetratricopeptide repeat domain 16 737633,1580863 15489334,15164053,14702039,12477932 737633 158248 NM_144965,AL162426,CH471090,AK057342,AK074105,AK128011,BC031281,BC032411 NP_659402,EAW87687,EAW87688,EAW87689,BAB71437,BAB84931,BAC87231,AAH31281,Q6ZRS8,Q8NEE8,Q8TEL7 Hs.642748 FLJ32780|RP11-56D16.6 protein-coding 1313426 TTC17 tetratricopeptide repeat domain 17 737633,1580863 15761153,15489334,14702039,12477932 737633 55761 AC023085,AC087276,CH471064,AF161431,AK001540,AK001752,AK023161,AK026217,AK074253,AK124380,BC017238,BC033000,NM_018259,BC041893,BX640972,CR615929 NP_060729,EAW68092,EAW68093,EAW68094,EAW68095,EAW68096,AAF28991,BAA91747,BAA91883,BAB14438,AAH17238,AAH33000,AAH41893,CAE45987,Q49A97,Q6MZP1,Q8NEC0,Q96AE7,Q9H906,Q9NV73,Q9NVK3,Q9P069 Hs.696109 DKFZp686D20222|FLJ10890|FLJ13099|FLJ23673 protein-coding 1316851 TTC18 tetratricopeptide repeat domain 18 737633 12477932 737633 118491 NM_145170,AC016394,AL512656,CH471083,AF435958,AF435959,AK098631,AL833537,BC032856 NP_660153,CAI15293,CAI15294,CAI15295,EAW54488,EAW54489,EAW54490,EAW54491,EAW54492,AAM20909,AAM20910,BAC05358,CAH10391,AAH32856,Q5T0N1 Hs.591367 FLJ25765|RP11-152N13.6 protein-coding 1353382 TTC19 tetratricopeptide repeat domain 19 This gene encodes a protein of unknown function. Alternatively spliced transcript variants have been identified, but their biological validity has not been determined. 15231747,16730941,16713569,15489334,14702039,12477932 54902 AK056878,AK094819,AL832412,BC003058,BC011698,BC073796,BC105128,BC112107,CR599783,CR604412,CR612615,CR615463,NM_017775,AC002553,AC006251,CH471222,AK000350,AK025958,AK055780 AAH11698,AAH73796,AAI05129,AAI12108,Q2M248,Q6DKK2,Q9H6G3,NP_060245,EAX04490,EAX04491,BAA91103,BAB15296 Hs.462316 2010204O13Rik|FLJ20343|MGC138312|MGC19520 protein-coding 1348204 TTC21A tetratricopeptide repeat domain 21A 1580863 16344560,14702039,12477932 199223 AA843452,AJ487015,AK022483,AK093313,AK098528,BC039691,BC062621,BC129948,BX647142,DB094952,DC403032,NM_001105513,NM_145755,AC092053,AC138124,CH471055 EAW64561,EAW64562,EAW64563,EAW64564,CAD31647,BAC04129,BAC05323,AAH62621,AAI29949,Q8NDW8,NP_001098983,NP_665698 Hs.443935 DKFZp686P18239|MGC156293|MGC70523|STI2 protein-coding 1344161 TTC21B tetratricopeptide repeat domain 21B 737633,1580863 16344560,14702039,12477932,12056414 737633 79809 AC009495,AC010127,AC011241,AC011303,AC019140,AC108031,CH471058,AB073395,AB082523,AK021519,AK057268,AK057906,AK096451,AK292942,BC035767,BC055424,NM_024753,BC063579,BX647903,CR608010,DA798655 NP_079029,AAY14750,EAX11321,EAX11322,BAE45724,BAC02701,BAB13836,BAB71404,BAF85631,AAH35767,AAH55424,AAH63579,Q7Z4L5 Hs.310672 FLJ11457|Nbla10696|THM1 protein-coding 1605998 TTC22 tetratricopeptide repeat domain 22 16710414,14702039,8889548 55001 NM_017904,NM_001114108,AC096536,AL139244,CH471059,AI923972,AK000626,AL049431,AW170453,AW195337,BM929669 NP_060374,NP_001107580,CAI18990,EAX06667,EAX06668,BAA91293,Q5TAA0 Hs.16230 FLJ20619 protein-coding 1601741 TTC23 tetratricopeptide repeat domain 23 16344560,16341674,15342556,14702039,12477932,9373149,8125298 64927 NM_001040656,NM_001040660,NM_001040655,NM_001040659,NM_001040657,NM_001040658,NM_022905,AC022819,AC036108,CH471101,AF411456,AK022634,AK023001,AK023230,AK222580,AK291690,BC015728,BC034816,BM755170,BP288479,DA644193,DA681018,DA743180,DA992241,DB088037,DB178976,DB238664 NP_001035746,NP_001035750,NP_001035745,NP_001035749,NP_001035747,NP_001035748,NP_075056,EAX02234,EAX02235,EAX02236,EAX02237,EAX02238,EAX02239,AAQ03215,BAB14144,BAB14480,BAD96300,BAF84379,AAH15728,Q5W5X9 Hs.513195,Hs.621260 FLJ12572|FLJ12939|HCC-8 protein-coding 1602975 TTC24 tetratricopeptide repeat domain 24 11181995 164118 NM_001105669,AL365181,CH471121,AW628680,BQ216668,BX414790 NP_001099139,CAI13047,CAM15718,EAW52944,A2A3L6 Hs.447851 FLJ20249 protein-coding 1606214 TTC25 tetratricopeptide repeat domain 25 17353931,11256614,16381901,15489336,14702039,12477932,11230166,11076863 83538 NM_031421,AC091172,AC125257,CH471152,AK055498,AL136760,BC025390,BC067297,CF593846,CR592419 NP_113609,EAW60782,EAW60783,EAW60784,BAB70936,CAB66694,AAH25390,AAH67297,Q96NG3,CAL38571 Hs.201134 DKFZP434H0115 protein-coding 1605330 TTC26 tetratricopeptide repeat domain 26 14702039,12477932 79989 NM_024926,AC009220,AC018644,CH236950,CH471070,AK022633,AL137393,BC013912,BC034466,BC126331,BC130339 NP_079202,EAL24039,EAW83906,EAW83907,EAW83908,BAB14143,CAB70721,AAH13912,AAI26332,AAI30340,A0AVF1,Q96CU4 Hs.659165 FLJ12571|MGC163211|dyf-13 protein-coding 1604350 TTC27 tetratricopeptide repeat domain 27 17353931,15761153,14702039,12477932,9373149,8125298 55622 NM_017735,AL121656,AL133246,CH471053,AK000279,AK000665,AK027570,AK225295,BC001248,BC063791,CR593170 NP_060205,EAX00441,EAX00442,BAA91048,BAA91315,BAB55206,AAH01248,AAH63791,Q6P3X3 Hs.468125 FLJ20272 protein-coding 1601773 TTC28 tetratricopeptide repeat domain 28 15489334,14702039,12477932,12168954,10591208,10470851 23331 XM_929318,XM_939083,XM_001726330,AL008722,AL008724,AL023281,AL033538,AL035397,AL035453,AL050313,AL080241,AL118497,AL121825,AB028966,AK055553,AK092338,AL080174,AL137328,BC016465 XP_934411,XP_944176,XP_001726382,CAB62963,CAB62964,CAI21502,CAQ08608,CAH73824,BAA82995,CAB45760,CAB70697,AAH16465,Q5W189,Q96AY4 Hs.387856 KIAA1043 protein-coding 1605320 TTC29 tetratricopeptide repeat domain 29 16344560,14702039,12477932,11329013,9373149,8125298 83894 NM_031956,AC092435,AC093887,AC097497,AC106050,CH471056,AF345910,AK093145,AK225725,BC024193,BG216688,DB034049,EF432564 NP_114162,EAX05022,EAX05023,EAX05024,AAK29064,BAC04072,AAH24193,ABO31099,Q8NA56,Q8TC83 Hs.378893 NYD-SP14|TBPP2A protein-coding 1318550 TTC3 tetratricopeptide repeat domain 3 1580863 17488780,14702039,12477932,10830953,10781955,9503011,9254009,8947847,8724848 7267 NM_001001894,NM_003316,AP001429,AP001432,CH471079,AJ001866,AK125473,AK291992,AY523634,BC026260,BC047867,BC063033,BC092466,BI915053,BQ893819,CA420000,CR592376,CR593065,CR936616,D83077,D83327,D84294,D84295,D84296 NP_001001894,NP_003307,EAX09716,EAX09717,EAX09718,EAX09719,EAX09720,EAX09721,EAX09722,EAX09723,CAA05057,BAF84681,AAT28185,AAH63033,AAH92466,CAI56759,BAA11769,BAA23666,BAA12301,BAA12302,BAA12303,P53804,Q569I2,Q5CZA6,Q5GIT6,Q6P578,Q9UEK4 Hs.368214 GDB:9834163 DCRR1|DKFZp686M0150|RNF105|TPRDIII protein-coding 1603937 TTC30A tetratricopeptide repeat domain 30A 14702039,12477932,8889548 92104 NM_152275,AC073834,CH471058,AK024008,AK057530,AK125104,AL049329,BC017695,BC042848,BC048006,BM684657,BQ015522 NP_689488,EAX11053,BAB14771,CAB43676,AAH42848,AAH48006,Q86WT1,Q9Y3U5 Hs.128384 FLJ13946 protein-coding 1603563 TTC30B tetratricopeptide repeat domain 30B 16344560,14702039,12477932 150737 NM_152517,AC073834,AI498353,AK055552,AW007843,BC033795,BX647620,DA260391,DA557876 NP_689730,BAB70953,AAH33795,CAH56200,Q63HQ1,Q8N4P2,Q96NE6 Hs.447659 FLJ30990 protein-coding 1605049 TTC31 tetratricopeptide repeat domain 31 15489334,14702039,12477932,9373149 64427 AC005041,CH471053,AK022850,AK026819,AK090520,AK223355,AK225626,BC036017,NM_022492,BC045536,BC047084,BC060805,BC096709,BC098114,BC098365,BC099729,BX648131,CR598803 NP_071937,EAW99638,EAW99639,EAW99640,EAW99641,EAW99642,EAW99643,EAW99644,EAW99645,EAW99646,EAW99647,EAW99648,BAB14272,BAD97075,AAH36017,AAH45536,AAH47084,AAH96709,AAH98365,Q49A28,Q49AM3,Q4KMS4,Q86XF2 Hs.557709 FLJ12788|FLJ33201|MGC120200 protein-coding 1605580 TTC32 tetratricopeptide repeat domain 32 15489334,12477932 130502 NM_001008237,AC013400,AX118999,CH471053,BC057850,BC070381 NP_001008238,CAC38573,EAX00842,EAX00843,AAH57850,Q5I0X7 Hs.591547 protein-coding 1606815 TTC33 tetratricopeptide repeat domain 33 16344560,12477932,8889548 23548 AF023244,AF130073,AI174764,BC015701,BC036536,BE869916,BF509085,BM543635,BM689740,BQ922097,CR598481,CR738110,CH471119,DA518274,DA652008,NM_012382,AC008810,AC093264 EAW55998,EAW55999,AAD09341,AAG35500,AAH15701,AAH36536,Q6PID6,Q9H3A1,ABM83290,ABM86499,NP_036514 Hs.348915,Hs.621357 OSRF protein-coding 1321326 TTC35 tetratricopeptide repeat domain 35 737633,1580863 10942595,16189514,15489334,14702039,12477932,11593002,9373149,8125298,7788527 737633 9694 NM_014673,AC022634,AP002088,CH471060,AK057571,AK222615,AK290974,BC007027,BC020753,BC021667,CR457402,CR597758,D14659 NP_055488,EAW91920,BAD96335,BAF83663,AAH20753,AAH21667,CAG33683,BAA03493,Q0P6I4,Q15006,Q53HG5 Hs.654351 GDB:9784702 KIAA0103 protein-coding 2291791 TTC3L tetratricopeptide repeat domain 3-like 286495 NG_007179,AL391495 RNF105L pseudo 1318353 TTC4 tetratricopeptide repeat domain 4 The 34-amino acid tetratricopeptide repeat (TPR) motif is found in a variety of proteins and may mediate protein-protein or protein-membrane interactions.[supplied by OMIM] 1580863 15489334,14702039,12477932,10828607,9933562,9373149,8125298,17353931,14623081 7268 NM_004623,AL139244,CH471059,AF063602,AF073887,AK025524,AK090964,AK222562,AK292426,BC001276,BT006817,CR599311,CR606917,CR607810,CR612462,CR616622,CR620756 NP_004614,CAI18993,CAI18994,CAI18995,EAX06670,EAX06671,EAX06672,EAX06673,EAX06674,AAG43161,AAD19853,BAD96282,BAF85115,AAH01276,AAP35463,O95801,Q53Y95,Q5TA96,Q5TA97 Hs.412482 GDB:9864458 MGC5097 protein-coding 1349134 TTC4P tetratricopeptide repeat domain 4, pseudogene 23618 GDB:10795349 1322658 TTC5 tetratricopeptide repeat domain 5 1580863 15489334,14702039,12477932,11511361 91875 NM_138376,AL356019,CH471078,CQ783482,AK074553,BC008647,BC030822,BC053538,BX248066,BX640732,BX648584,CR597562,CR600482,CR608059,CR610331 NP_612385,EAW66480,EAW66481,EAW66482,CAF86668,BAC11056,AAH08647,AAH30822,AAH53538,CAD62359,CAE45848,Q6N024,Q86T04,Q8N0Z6 Hs.102480 Strap protein-coding 1323287 TTC6 tetratricopeptide repeat domain 6 15489334,12477932 115669 NM_001007795,AL136296,AL163151,CH471078,BC014342,BC103914,BC103915,BC103916,BX161415 NP_001007796,EAW65837,EAW65838,EAW65839,EAW65840,EAW65841,EAW65842,EAW65843,AAH14342,AAI03915,AAI03916,AAI03917,CAD61890,Q3SY86,Q3SY87,Q3SY88,Q86TZ1 Hs.670915 MGC119358|MGC119360|MGC119361 protein-coding 1314700 TTC7A tetratricopeptide repeat domain 7A The tetratricopeptide repeat (TPR) domain is defined by a degenerate consensus sequence of 34 amino acids. TPR domain-containing proteins, such as TTC7A, have diverse functions in cell cycle control, protein transport, phosphate turnover, and protein trafficking or secretion, and they can act as chaperones or scaffolding proteins (White et al., 2005 [PubMed 15718100]).[supplied by OMIM] 1580863 17081983,15718100,15489334,14702039,12477932,12168954,10574461 57217 NM_020458,AC073283,AC093732,CH471053,AA504156,AB032966,AK056464,AL117512,AL834383,BC001978,BC027457,BC035708,BC065554,BC082965,BC111487,BC114365 NP_065191,EAX00226,EAX00227,EAX00228,EAX00229,BAA86454,CAD39046,AAH01978,AAH27457,AAH35708,AAH65554,AAI11488,AAI14366,Q29R67,Q2T9J9,Q6P0M3,Q8IYJ8,Q9ULT0 Hs.370603 MGC131720|MGC134830|TTC7 protein-coding 1314238 TTC7B tetratricopeptide repeat domain 7B 15489334,12508121,12477932 145567 NM_001010854,AL096869,AL122020,AL139193,CH471061,AK126571,AL832848,BC035865,BC048270,BG489583,BQ426031,BX247966,BX248275,CB988671,CR602568,CR624723 NP_001010854,EAW81433,EAW81434,EAW81435,EAW81436,EAW81437,EAW81438,CAI46128,AAH35865,AAH48270,CAD62305,CAD62603,Q6PIF1,Q86TV6,AAI48530,AAI53123 Hs.655697 TTC7L1|c14_5685 protein-coding 1317152 TTC8 tetratricopeptide repeat domain 8 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized. 1624198,1580863 15489334,14702039,14520415,12477932,16189514 1624198 123016 NM_144596,NM_198309,NM_198310,AL121768,AL133238,CH471061,AF086168,AK093891,AK124675,AL833901,AY366523,AY366524,AY373972,BC001563,BC026351,BC095433,BG330023,BX161472,BX247959,BX248071,BX248248,CR593689 NP_653197,NP_938051,NP_938052,EAW81395,EAW81396,EAW81397,EAW81398,EAW81399,EAW81400,EAW81401,EAW81402,CAD38757,AAR02192,AAR02193,AAR19043,AAH01563,AAH26351,AAH95433,CAD61928,CAD62299,CAD62360,CAD62576,Q67B97,Q86U25,Q8TAM2 Hs.303055 BBS8 protein-coding 1318967 TTC9 tetratricopeptide repeat domain 9 1580863 15489334,12477932,9039502 23508 NM_015351,AC004816,AL357153,CH471061,BC047950,BX407741,CR603109,CR616110,CR625887,D86980 NP_056166,EAW81043,EAW81044,AAH47950,BAA13216,Q92623 Hs.79170 KIAA0227|TTC9A protein-coding 1603894 TTC9B tetratricopeptide repeat domain 9B 14702039,12477932 148014 NM_152479,AC118344,CH471126,AK054935,AK289550,BC029539,CR596147,CR610812,CR617938,CR626768 NP_689692,EAW56938,BAB70830,BAF82239,AAH29539,Q8N6N2 Hs.631572 FLJ30373|MGC33962 protein-coding 1601809 TTC9C tetratricopeptide repeat domain 9C 12477932 283237 AF289605,BC032123,NM_173810,AP001160,CH471076,BC053665,AF451992,AF451993 NP_776171,EAW74086,EAW74087,AAH32123,AAH53665,Q8N5M4,Q8WYY7,AAL55789,AAP97691,AAP97692 Hs.31704 MGC29649 protein-coding 1350554 TTD trichothiodystrophy 8213812 7269 GDB:230276 1352742 TTF1 transcription termination factor, RNA polymerase I 1580863 7597036,16565220,15489334,15231748,12477932,11532953,11250901,9582279,9373149,8889548,8125298 7270 AL353701,CH471090,AK225119,BC050734,NM_007344,BC062692,BC104639,BC127669,BC127670,BC143048,BC143049,BM827593,BU195816,BU674009 NP_031370,CAI94997,EAW88001,EAW88002,AAH50734,AAH62692,AAI04640,AAI27670,AAI27671,AAI43049,AAI43050,Q15361 Hs.54780 GDB:1230439 protein-coding 1319323 TTF2 transcription termination factor, RNA polymerase II This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. 9748214,16710414,15489334,15467445,15320969,15231748,15125840,12927788,12477932,12165566,10455150,1916263 8458 AL139248,AL391476,AL445231,CH471122,NM_003594,AB209845,AF073771,AF080255,AI991355,AK291017,AW027795,BC015341,BC030058,BI857056,BQ422564,BU182600,H81916 NP_003585,CAI12731,CAI12738,CAH71961,EAW56666,EAW56667,BAD93082,AAC64044,AAD49435,BAF83706,AAH30058,Q59EG6,Q9UNY4 Hs.708237 GDB:9958916 HuF2 protein-coding 1353603 TTIM1 T-cell tumor invasion and metastasis 1 1298665 1298665 7271 GDB:120472 1313655 TTK TTK protein kinase 1580863 14657364,14702039,7737118,10366450,1639825,18083840,17804818,17728254,17573779,17452325,17388661,17268814,17210994,16864798,16080195,15618221,15304323,12686615,12477932,11927556,7678926,1956325,11799066 7272 NM_003318,AL133475,CH471051,AK095599,AK292460,BC000633,BC032858,CR624652,X70500 NP_003309,CAB87580,CAI20323,EAW48699,EAW48700,BAF85149,AAH00633,AAH32858,CAA49912,P33981,Q5TCS1,ABM82886,ABM86076 Hs.169840 GDB:455142 ESK|FLJ38280|MPS1L1|PYT protein-coding 732112 TTL tubulin tyrosine ligase TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM] 15489334,15146197,14571137,12477932,11431336,8889549,8093886 150465 NM_153712,AC012442,CH471217,AA099055,AB071393,AK026673,AK126378,AK126549,BC036331,BC036707,BC036819,BC046913,BX538316,BX647135,BX649144,CN361230,CR599730,CR626151 NP_714923,AAX81998,EAW73589,BAC06832,AAH36819,CAD98091,Q585T3,Q8NG68,ABM85001 Hs.358997 MGC46235 protein-coding 1319289 TTLL1 tubulin tyrosine ligase-like family, member 1 1580863 15890843,15489334,15461802,14702039,12529303,12477932,11230166,11054573,10591208,8724849 25809 NM_012263,NM_001008572,AL022237,AL022476,CH471138,AF104927,AF173935,AK095996,AL096883,AL096886,AL136687,AL589867,BC009058,BC014968,BC039353,BF433080,CR456599,CR590596,CR591272,CR598688,CR605269,CR618247,CR625979 NP_036395,NP_001008572,CAB39176,EAW73279,EAW73280,EAW73281,AAG29879,AAF91088,CAB51423,CAB51469,CAB66622,CAC34478,AAH14968,CAG30485,O95922,CAK54630,CAK54929,ABM83124,ABM86319 Hs.660298,Hs.706553 GDB:11502186 C22orf7|HS323M22B protein-coding 1602419 TTLL10 tubulin tyrosine ligase-like family, member 10 15890843,14702039,12477932 254173 NM_153254,AL162741,AL390719,CH471183,AK093438,AK124125,BC027945,BC126152,BC126154 NP_694986,CAI23266,CAI14321,CAI14322,EAW56285,EAW56286,BAC04164,BAC85781,AAI26153,AAI26155,Q6ZVT0 Hs.454835 FLJ36119|FLJ42131|RP5-902P8.1|TTLL5 protein-coding 1322671 TTLL11 tubulin tyrosine ligase-like family, member 11 15890843,15164053,14702039 158135 NM_194252,AL162423,AL442634,AL445587,AL596244,CH471090,AF521886,AF521887,AK055126,AK125178 NP_919228,CAI40706,EAW87505,EAW87506,EAW87507,EAW87508,EAW87509,AAM81328,Q8NHH1,AAM81329,BAC86073,Q6ZUZ3,Q8NHH0 Hs.656140 GDB:11505374 C9orf20|RP11-429D3.1|bA244O19.1 chromosome 9 open reading frame 20 protein-coding 1604381 TTLL12 tubulin tyrosine ligase-like family, member 12 15890843,15489334,12477932,10591208,8590280 23170 NM_015140,CH471138,Z82214,AK123789,AL590888,BC001070,CR593557,CR597138,CR599372,CR601017,CR610976,CR611885,CT841516,D63487 NP_055955,EAW73291,EAW73292,CAB55886,BAC85691,CAC37415,AAH01070,CAJ86446,BAA09774,Q14166,Q6ZW16,Q9BR23 Hs.517670 FLJ41795|KIAA0153|dJ526I14.2 protein-coding 1604421 TTLL13 tubulin tyrosine ligase-like family, member 13 15890843,12477932 440307 NM_001029964,AC091167,CH471101,AK127965,BC036668 NP_001025135,EAX02094,EAX02095 Hs.632164 FLJ46079|MGC33417 protein-coding 1354449 TTLL1P tubulin tyrosine ligase-like 1 pseudogene 387498 1313087 TTLL2 tubulin tyrosine ligase-like family, member 2 1580863 14702039,12477932,11054573,9373149,8125298 83887 NM_031949,CH471051,AK093039,AK098527,AK225984,AY026506,BC030650,BC047411 NP_114155,EAW47498,AAK20169,AAH30650,AAH47411,Q9BWV7 Hs.520554 C6orf104|NYD-TSPG|dJ366N23.3 protein-coding 1322614 TTLL3 tubulin tyrosine ligase-like family, member 3 1580863 16344560,15342556,12477932,11054573,8889548,14702039 26140 NM_001025930,AC018809,AC022382,AA742169,AF078842,AK023960,AK097236,AK125875,AL096725,AL833939,BC009479,BC028169,BC098298,BC098361,BC099735,BC105638,NM_015644,BM674442,BM717061,BP357921,BX440835,CB854808,DA267460 NP_056459,NP_001021100,AAF23353,BAB14741,BAC86331,CAB46375,CAD38794,AAH09479,AAH98298,AAH98361,AAH99735,AAI05639,Q6ZS22,Q9H7Z5,Q9Y4R7 Hs.709359 DKFZP434B103|DKFZp686D076|FLJ13898|HOTTL|MGC120529|MGC120530|MGC120532 protein-coding 1315312 TTLL4 tubulin tyrosine ligase-like family, member 4 1580863 8724849,15489334,12477932,11054573 9654 NM_014640,AC009974,CH471063,AK291770,AL833511,BC021707,D79995 NP_055455,EAW70651,EAW70652,BAF84459,AAH21707,BAA11490,Q14679 Hs.471405 KIAA0173 protein-coding 1350630 TTLL5 tubulin tyrosine ligase-like family, member 5 17116691,17081983,15890843,14702039,12508121,12477932,10231032 23093 NM_015072,AC007182,AC009399,AF107885,AL137329,AB023215,AK021879,AK024259,AL133586,AL136808,AY237126,BC002766,BC016625,BC110652,BX647530,CR533554 NP_055887,AAF23275,AAC79729,AAC79730,BAA76842,BAB14862,CAB63729,CAB66742,AAP75557,AAH02766,AAH16625,AAI10653,CAG38585,O95419,O95420,Q2TAY9,Q6EMB2,Q9BUB0,Q9H0G4,Q9H7W2,Q9UF64 Hs.532626 GDB:9954757 KIAA0998|MGC117189|STAMP protein-coding 1605245 TTLL6 tubulin tyrosine ligase-like family, member 6 16443334,15890843,14702039,12477932 284076 NM_173623,AC068531,AY898275,AY898276,AY898277,AY898278,AY898279,AY898280,AY898281,AY898596,AY898597,AY898598,AY898599,AY898600,AY898601,AY898602,AY898603,CH471109,AK093127,AY898282,AY898283,AK097392,AL834151,BC033563,BC041368,AY898530,AY898531,AY898532,AY898533,AY898534,AY898535,AY898536,AY898537,AY898538,AY898539,AY898540,AY898541,AY898575,AY898576,AY898577,AY898578,AY898579,AY898580,AY898581,AY898582,AY898583,AY898584,AY898585,AY898586,AY898587,AY898588,AY898589,AY898590,AY898591,AY898592,AY898593,AY898594,AY898595,AY898574,AY898542,AY898529,AY898543,AY898544,AY898545,AY898546,AY898547,AY898548,AY898549,AY898550,AY898551,AY898552,AY898553,AY898554,AY898555,AY898556,AY898557,AY898558,AY898559,AY898560,AY898561,AY898569,AY898570,AY898571,AY898572,AY898573,AY898290,AY898291,AY898292,AY898293,AY898294,AY898295,AY898296,AY898297,AY898298,AY898299,AY898300,AY898301,AY898302,AY898303,AY898304,AY898305,AY898306,AY898307,AY898308,AY898309,AY898359,AY898360,AY898361,AY898362,AY898363,AY898364,AY898365,AY898366,AY898367,AY898368,AY898369,AY898370,AY898371,AY898284,AY898373,AY898374,AY898375,AY898376,AY898377,AY898378,AY898379,AY898380,AY898381,AY898382,AY898383,AY898384,AY898385,AY898386,AY898387,AY898388,AY898389,AY898390,AY898391,AY898392,AY898393,AY898285,AY898286,AY898287,AY898288,AY898289,AY898401,AY898402,AY898403,AY898404,AY898405,AY898406,AY898407,AY898408,AY898409,AY898410,AY898411,AY898412,AY898413,AY898414,AY898415,AY898416,AY898417,AY898418,AY898419,AY898420,AY898421,AY898422,AY898372,AY898447,AY898448,AY898449,AY898450,AY898451,AY898452,AY898453,AY898454,AY898455,AY898456,AY898457,AY898458,AY898459,AY898460,AY898461,AY898462,AY898463,AY898464,AY898465,AY898466,AY898467,AY898468,AY898469,AY898470,AY898471,AY898472,AY898473,AY898474,AY898475,AY898476,AY898477,AY898485,AY898486,AY898487,AY898488,AY898489,AY898490,AY898491,AY898492,AY898493,AY898494,AY898495,AY898496,AY898497,AY898498,AY898499,AY898500,AY898501,AY898502,AY898503,AY898504,AY898505,AY898506,AY898507,AY898508,AY898509,AY898510,AY898511,AY898512,AY898513,AY898514,AY898515,AY898516,AY898517,AY898518,AY898519,AY898527,AY898528,AY898423,AY898424,AY898425,AY898426,AY898427,AY898428,AY898429,AY898430,AY898431,AY898432,AY898433,AY898434,AY898435,AY898443,AY898444,AY898445,AY898446 NP_775894,AAY28091,AAY28092,AAY28093,AAY28094,AAY28095,AAY28096,AAX86451,AAX86452,AAX86453,AAX86454,AAX86455,AAX86456,AAX86457,AAX86458,EAW94709,EAW94710,EAW94711,EAW94712,EAW94713,AAY28097,AAY28098,AAY28099,BAC04066,BAC05032,CAH56366,AAH33563,Q658K6,Q8N841,AAX86450,AAX86384,AAX86385,AAX86386,AAX86387,AAX86388,AAX86389,AAX86390,AAX86391,AAX86392,AAX86393,AAX86394,AAX86395,AAX86396,AAX86429,AAX86430,AAX86431,AAX86432,AAX86433,AAX86434,AAX86435,AAX86436,AAX86437,AAX86438,AAX86439,AAX86440,AAX86441,AAX86442,AAX86443,AAX86444,AAX86445,AAX86446,AAX86447,AAX86448,AAX86449,AAX86398,AAX86399,AAX86400,AAX86401,AAX86402,AAX86403,AAX86404,AAX86405,AAX86406,AAX86407,AAX86408,AAX86409,AAX86410,AAX86411,AAX86412,AAX86413,AAX86414,AAX86415,AAX86397,AAX86416,AAX86424,AAX86425,AAX86426,AAX86427,AAX86428,AAY28105,AAY28106,AAY28107,AAY28108,AAY28109,AAY28110,AAY28111,AAY28112,AAY28113,AAY28114,AAY28115,AAY28116,AAY28117,AAY28118,AAY28119,AAY28120,AAY28121,AAY28122,AAY28123,AAY28124,AAY28125,AAX86214,AAX86215,AAX86216,AAX86217,AAX86218,AAX86219,AAX86220,AAX86221,AAX86222,AAX86223,AAX86224,AAX86225,AAX86226,AAX86227,AAX86228,AAX86229,AAX86230,AAX86231,AAX86232,AAX86233,AAX86234,AAX86235,AAX86236,AAX86237,AAX86238,AAX86239,AAX86240,AAX86241,AAX86242,AAX86243,AAX86244,AAX86245,AAX86246,AAX86247,AAY28100,AAY28101,AAY28102,AAY28103,AAY28104,AAX86248,AAX86256,AAX86257,AAX86258,AAX86259,AAX86260,AAX86261,AAX86262,AAX86263,AAX86264,AAX86265,AAX86266,AAX86267,AAX86268,AAX86269,AAX86270,AAX86271,AAX86272,AAX86273,AAX86274,AAX86275,AAX86276,AAX86277,AAX86301,AAX86302,AAX86303,AAX86304,AAX86305,AAX86306,AAX86307,AAX86308,AAX86309,AAX86310,AAX86311,AAX86312,AAX86313,AAX86314,AAX86315,AAX86316,AAX86317,AAX86318,AAX86319,AAX86320,AAX86321,AAX86322,AAX86323,AAX86324,AAX86325,AAX86326,AAX86327,AAX86328,AAX86329,AAX86330,AAX86331,AAX86332,AAX86340,AAX86341,AAX86342,AAX86343,AAX86344,AAX86345,AAX86346,AAX86347,AAX86348,AAX86349,AAX86350,AAX86351,AAX86352,AAX86353,AAX86354,AAX86355,AAX86356,AAX86357,AAX86358,AAX86359,AAX86360,AAX86361,AAX86362,AAX86363,AAX86364,AAX86365,AAX86366,AAX86367,AAX86368,AAX86369,AAX86370,AAX86371,AAX86372,AAX86373,AAX86374,AAX86382,AAX86383,AAX86278,AAX86279,AAX86280,AAX86281,AAX86282,AAX86283,AAX86284,AAX86285,AAX86286,AAX86287,AAX86288,AAX86289,AAX86290,AAX86298,AAX86299,AAX86300 Hs.91930 FLJ35808|TTL.6 protein-coding 1605943 TTLL7 tubulin tyrosine ligase-like family, member 7 16710414,15890843,15489334,14702039,12477932,9373149,8125298 79739 NM_024686,AC104454,AL138844,CH471097,AK026686,AK094174,AK126792,AK128604,AK225574,AY170843,BC028350,BC032829,BC048970,BC060878,BG718305 NP_078962,EAW73251,EAW73252,BAB15526,BAC86695,BAC87524,AAO37763,AAH28350,AAH32829,AAH48970,AAH60878,Q49AR4,Q5TAY0,Q5TAY1,Q6ZR01,Q6ZT98,Q86VS2,Q8TC09 Hs.445826 FLJ23033|FLJ36855|RP5-836J3.2 protein-coding 2290198 TTLL8 tubulin tyrosine ligase-like family, member 8 15890843 164714 NM_001080447,AL022327 NP_001073916,CAO03520,Q5JZ84 Hs.658992 protein-coding 1345675 TTLL9 tubulin tyrosine ligase-like family, member 9 15890843,14702039,12477932 164395 NM_001008409,AL031658,AL160175,AL359765,CH471077,AK090839,AK093491,AK123328,AL161969,BC036213,BC068593,BC104024,BC104025 NP_001008409,CAI42576,CAI42577,CAH70173,EAW76401,EAW76402,EAW76403,EAW76404,EAW76405,EAW76406,EAW76407,EAW76408,AAI04025,AAI04026,Q3SXZ7,Q5VX47,Q5VX48,Q5VX49,Q9BR18 Hs.707181 GDB:11505094 C20orf125|MGC120486|MGC120487|dJ310O13.1 chromosome 20 open reading frame 125 protein-coding 1605120 TTN titin This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. A N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere respectively so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Of the many titin variants identified, five for which complete transcript information is available are described. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9 and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. 9804419,10481174,11717165,7569978,9501083,8937992,18212128,17890397,17669421,17574571,17522126,17496052,17444505,17366640,17028145,16949617,16766517,16733766,16713295,16627476,16531234,16465475,16465472,16410549,16407954,16322914,15967462,15849252,15815621,15802564,15632200,15507486,15489334,15345656,15322090,15238456,15211512,14702039,14676215,14593205,14583192,12891679,12865504,12816538,12785101,12785098,12555133,12482578,12477932,12446666,12444090,12432079,12414993,12221049,12202917,12198551,12187564,12145747,11927605,11911777,11851340,11846417,11812150,11800567,11799131,11788824,11746675,11701614,11525170,11448995,11305911,11178895,11084039,10987085,10850961,10462489,10396137,10053013,10051295,9817758,9782056,9763216,9645487,9642272,9548712,9359044,9251807,9185618,8631348,8604138,8537379,8522604,8404852,8351016,8063857,7819249,7613868,7588733,7505783,3397062,2129545,1582406,1429890,17353931,15385448 7273 AL833110,AL833292,BC013396,BC017983,BC026297,BC029400,BC030823,BC058824,BC070170,BC107797,BX537998,DQ248309,EF212153,EF212154,EF212155,EF212156,EU428784,M19668,X64697,X64698,X69490,X83270,X90568,X90569,X98114,X98115,NM_003319,NM_133437,NM_133432,NM_133378,NM_133379,AC009948,AC010680,AC023270,AF058332,AJ277892,CH471058,X64699,X92412,AF321609,AF525413,AK056602,AK091732,AK092284,AK096883,AK125056,AK129531,AK129919,AL713647,AL832094,AL832351 AAH13396,AAH58824,AAH70170,AAI07798,CAD97954,ABB55264,ABN05229,ABN05230,ABN05231,ABN05232,ACA00206,AAA59916,CAA45938,CAA45939,CAA49245,CAA58243,CAA62188,CAA62189,CAA66795,CAA66796,Q4ZG20,Q6ZP81,Q71S18,Q7Z3B7,Q8N237,Q8WZ42,Q8WZ50,NP_003310,NP_597681,NP_597676,NP_596869,NP_596870,AAX88844,AAD22603,AAD22604,CAD12455,CAD12456,CAD12457,CAD12458,CAD12459,CAD12460,EAX11013,EAX11014,EAX11015,EAX11016,EAX11017,EAX11018,EAX11019,CAA45940,AAT09768,AAP80791,BAC03850,CAD28458 Hs.654592 GDB:127867 CMD1G|CMH9|CMPD4|CONNECTIN|DKFZp451N061|EOMFC|FLJ26020|FLJ26409|FLJ32040|FLJ34413|FLJ39564|FLJ43066|HMERF|LGMD2J|TMD protein-coding 731914 TTPA tocopherol (alpha) transfer protein 1600430,1600432,1600436,1580863 7887897,17689414,16819822,16037259,15489334,15466927,15300460,15190938,15065857,14657365,12899840,12477932,12470185,9931538,9463307,8602747,8252047,7719340,7566022 1600430,1600432,1600436 7274 NM_000370,AC120042,AF031324,CH471068,BC041784,BC058000,D49488,U21938 NP_000361,AAC67490,EAW86863,AAH58000,BAA08449,AAA64309,P49638 Hs.69049 GDB:512364 ATTP|AVED|TTP1|alphaTTP protein-coding 737331 TTR transthyretin (prealbumin, amyloidosis type I) 1580523,1580525,1580526,1580527,1580528,1331525,1580863 10841549,14718574,18257091,18237193,18221012,17980738,17968690,17968687,17957146,17873539,17698792,17683510,17683281,17671371,17630783,17577688,17558848,17503405,17487420,17466336,17431395,17378745,11853533,11709003,11577236,11478875,11445644,11418763,11243784,11106758,10982792,10882995,10854215,10845569,10842705,10742177,10704770,10694917,10671063,10627502,10627135,10529370,10465115,10071047,10052934,9818883,9818054,9789022,9771673,9307034,9191784,8990019,8960746,8857732,8784093,8692810,8579098,8549676,15793844,15736938,15649951,15536615,15489334,15214015,15210129,15033978,14981241,14760718,11995997,8428915,11913969,8352764,8309582,8257997,8218290,8133316,8095302,8095301,8089102,8081397,8038017,8019560,7946531,7923855,7914929,7910950,7850982,7839813,7794243,7754382,7599630,7474944,7417777,7033114,6651852,6583672,6549130,6487335,6300852,6208668,6093805,6087811,4952599,4607556,4328329,4216640,4054629,4044580,3818577,3762958,3760189,3722385,3714052,3675594,3479441,3229002,3135807,3028932,3022108,3022107,3011930,2995367,2990465,2891727,2877582,2693890,2613237,2363717,2360796,2320592,2174830,2161654,2122246,2046936,2015890,1997217,1981182,14690414,14673473,14604984,14578606,14534839,14507924,14506715,13367520,12900507,12876326,12874858,12874414,12771253,12697331,12665801,12593674,12566023,12560553,12481032,12477932,12433265,12403615,12354101,12095258,12082059,12039669,17203960,17196219,17176092,17143887,17116243,17062384,8406434,8382610,16893521,16892178,16879610,16751191,16732734,16716350,16698124,16552785,16487493,16386248,16335952,16225852,16219761,16204882,16199891,16194875,16189514,16185074,16169070,16159939,16130282,16114899,16079207,16076613,16053476,16011990,15995833,15930086,15821170,1979335,1977686,1932142,1877623,1867256,1734866,1666289,1656975,1626570,1602151,1570831,1544214,1520336,1520326,1517749,1436517,1362222,1356051,1351039,1301926,671542,574085,201845,15610856 1580523,1580525,1580526,1580527,1580528,1331525 7276 U19780,X59498,NM_000371,AC079096,AF485253,AF485254,CH471088,M11518,M11844,M15515,M63285,S63185,S72385,S81436,AF162690,BC005310,BC020791,BT007189,CR456908,D00096,DQ778081,DQ839490,K02091,M10605,M11714 AAA73473,CAA42087,P02766,Q53WY6,Q549C7,Q8TDB1,Q8TDB2,NP_000362,AAL92042,AAL92043,EAX01264,EAX01265,EAX01266,AAA98771,AAA60013,AAA60018,AAA36784,AAD14937,AAD14098,AAB36045,AAD45014,AAA61181,AAH05310,AAH20791,AAP35853,CAG33189,BAA00059,ABI63345,ABI63351,AAA60011,AAA60012 Hs.427202 GDB:119471 HsT2651|PALB|TBPA transthyretin protein-coding 1348894 TTRAP TRAF and TNF receptor associated protein This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. 1580863 10764746,17597587,15489334,14702039,14574404,12743594,12477932,11478795,10931946,16189514,14609633 51567 CR595644,CR597293,CR601303,CR602029,NM_016614,AL031775,AY613922,CH471087,AF201687,AF223469,AJ269473,AJ420495,AK002168,BC017553,BC110375,CR592636 NP_057698,CAA21141,CAD92510,AAT09764,EAW55458,EAW55459,AAG35600,AAF64144,CAB92966,BAA92119,AAH17553,AAI10376,O95551,ABZ92143 Hs.696104 AD022|EAP2|MGC111021|MGC9099|RP1-30M3.3|dJ30M3.3 protein-coding 1346232 TTTY1 testis-specific transcript, Y-linked 1 12815542,12815422,9847074,9381176 50858 NR_001538,AC017019,AF000990 Hs.694006 GDB:11508086 TTY1 miscrna 1344684 TTTY10 testis-specific transcript, Y-linked 10 12815422 246119 NR_001542,AC011745,AF332239 GDB:11508088 TTY10 miscrna 1354260 TTTY11 testis-specific transcript, Y-linked 11 12815422 83866 NR_001548,AC009491,AF332240 Hs.122396 GDB:11508090 TTY11 miscrna 1350774 TTTY12 testis-specific transcript, Y-linked 12 12815422 83867 NR_001551,AC007275,AF332241 Hs.667616 GDB:11508092 TTY12 miscrna 1346031 TTTY13 testis-specific transcript, Y-linked 13 1580863 12815422 83868 NR_001537,NG_004832,AC021107,AF332242 Hs.615432 GDB:11508094 TTY13 miscrna 1342643 TTTY14 testis-specific transcript, Y-linked 14 12815422 83869 NR_001543,AC007244,AC009235,AF332243 Hs.667793 GDB:11508096 TTY14 miscrna 1352248 TTTY15 testis-specific transcript, Y-linked 15 12815422 64595 NR_001545,AC004810,AL080135 Hs.433656 GDB:11508098 DKFZP434I143 miscrna 1349594 TTTY16 testis-specific transcript, Y-linked 16 12815422 252948 NR_001552,AC007274,AF527828 Hs.522848 GDB:11510269 miscrna 1343062 TTTY17A testis-specific transcript, Y-linked 17A There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. 12815422 252949 NR_001526,NG_004755,AC016911,AF527829 Hs.522869 GDB:11510271 TTTY17 testis-specific transcript, y-linked 17 miscrna 1351032 TTTY17B testis-specific transcript, Y-linked 17B There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. 12815422 474151 NR_002180,NG_004755,AC016698 miscrna 1347507 TTTY17C testis-specific transcript, Y-linked 17C There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. 12815422 474152 NR_002179,NG_004755,AC006386 miscrna 1351766 TTTY18 testis-specific transcript, Y-linked 18 12815422 252950 NR_001550,AC064829,AF527830 Hs.522852 GDB:11510273 miscrna 1349939 TTTY19 testis-specific transcript, Y-linked 19 12815422 252952 NR_001549,AC064829,AF527831 Hs.522853 GDB:11510275 miscrna 1353377 TTTY2 testis-specific transcript, Y-linked 2 12815422,9381176 60439 NR_001536,AC017019,AF000991,DB449030 Hs.158345 GDB:11508100 TTY2 miscrna 1348529 TTTY20 testis-specific transcript, Y-linked 20 12815422 252951 NR_001546,AC006158,AF527832 Hs.632292 GDB:11510277 miscrna 1352031 TTTY21 testis-specific transcript, Y-linked 21 12815422 252953 NR_001535,AC017019,AF527833 Hs.522847 GDB:11510279 miscrna 1343579 TTTY22 testis-specific transcript, Y-linked 22 12815422 252954 NR_001539,AC010891,AC017019,AF527834 Hs.511961 GDB:11510281 miscrna 1346646 TTTY23 testis-specific transcript, Y-linked 23 12815422 252955 NR_001540,AC006986,AF527836 Hs.522846 GDB:11510283 miscrna 1350311 TTTY3 testis-specific transcript, Y-linked 3 There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. 12815422 114760 NR_001524,NG_004755,AC010682,AF332230 Hs.511777 GDB:11508102 TTTY3A|TTY3 miscrna 1349314 TTTY3B testis-specific transcript, Y-linked 3B There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. 12815422 474148 NR_002176,NG_004755,AC073893 miscrna 1348326 TTTY4 testis-specific transcript, Y-linked 4 There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. 12815422 114761 NR_001525,NG_004755,AC006366,AF332231 Hs.679521 GDB:11508104 TTTY4A|TTY4 miscrna 1350699 TTTY4B testis-specific transcript, Y-linked 4B There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. 12815422 474149 NR_002178,NG_004755,AC010153 miscrna 1353688 TTTY4C testis-specific transcript, Y-linked 4C There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. 12815422 474150 NR_002177,NG_004755,AC016728 miscrna 1605324 TTTY5 testis-specific transcript, Y-linked 5 There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. 12815422,11687796 83863 NR_001541,NG_004755,AC007320,AF332236 Hs.121389 GDB:11508106 TTY5 miscrna 1353962 TTTY6 testis-specific transcript, Y-linked 6 There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. 12815422 84672 NR_001527,NG_004755,AC007320,AF332237 Hs.694268 GDB:11508108 TTTY6A|TTY6 miscrna 1347321 TTTY6B testis-specific transcript, Y-linked 6B There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. 17114936,12815422 441543 NR_002175,NG_004755,AC023342,AA884105,AY597808 Hs.535085 TTTY6|TTY6 miscrna 1348603 TTTY7 testis-specific transcript, Y-linked 7 12815422 246122 NR_001534,AC006335,AF278762,AF332232,AF332233,AW514248 Hs.407277 GDB:11508110 TTY7 miscrna 1346627 TTTY8 testis-specific transcript, Y-linked 8 12815422,12477932 84673 NR_001533,AC017019,AF332234,AF332235,BC026100 Hs.461138 GDB:11508112 TTY8 miscrna 1353702 TTTY9A testis-specific transcript, Y-linked 9A This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. 12815422 83864 NR_001530,NG_004636,AC007379,AF332238 Hs.567607 GDB:11508114 TTTY9|TTY9 testis-specific transcript, y-linked 9 miscrna 1603457 TTTY9B testis-specific transcript, Y-linked 9B This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. 17114936,12815422 425057 NR_002159,NG_004636,AC022486 TTTY9|TTTY9A|TTY9 miscrna 1320816 TTYH1 tweety homolog 1 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 10950931,15010458,12477932 57348 BC011347,BC019358,BC065919,BX402889,CR597839,CR624363,NM_020659,NM_001005367,AC008746,CH471135,CU467002,AB162930,AB188496,AF177909,AK126690,AK289468 BAF82157,AAH11347,AAH19358,Q9H313,NP_065710,NP_001005367,EAW72239,EAW72240,EAW72241,EAW72242,EAW72243,EAW72244,EAW72245,EAW72246,CAQ08949,CAQ08950,CAQ08951,CAQ08952,BAD20189,BAD37142,AAG02580,BAC86645 Hs.268728 GDB:10797000 protein-coding 1354269 TTYH2 tweety homolog 2 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. 18260827,17569141,15010458,14739304,14702039,12477932,11597145 94015 NM_032646,NM_052869,AC100786,CH471099,AF319952,AK058197,AK091085,AK126955,AL831858,BC004233,BC005168,BC107492,BC107602,BF529231,BX647912 NP_116035,NP_443101,EAW89142,EAW89143,AAL16784,BAC03579,CAD38555,AAH05168,AAI07493,AAI07603,CAH10576,Q8N3U8,Q9BSA4 Hs.27935 GDB:11503271 C17orf29|MGC126172|MGC4837 protein-coding 1319948 TTYH3 tweety homolog 3 (Drosophila) This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. 15010458,14702039,12477932,11214970 80727 AC006028,AC073462,CH236953,CH471144,NM_025250,AB051478,AB162931,AF318350,AK074158,AK096851,AK124608,AL522452,AL833825,BC041603,BC069027,BC131824,BC152447 NP_079526,EAL23958,EAW87265,EAW87266,EAW87267,EAW87268,BAB21782,BAD20190,BAB84984,BAC85898,CAH10666,AAI31825,AAI52448,Q69YH1,Q8WYU9,Q9C0H2,AAL55857 Hs.440899 KIAA1691 protein-coding 1343505 TUB tubby homolog (mouse) This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. 1625564,1625565,1580863 11000483,18183286,17955208,17498679,16443771,15489334,12477932,11801719,11375483,10591637,10455176,9096357,8612280,1358794 1625564,1625565 7275 AJ296302,CH471064,AB209618,BC036400,BC075031,BC075032,CR617957,CR619255,U54644,U82467,NM_003320,NM_177972,AC116456,AJ277662 CAC39298,EAW68632,EAW68633,EAW68634,BAD92855,AAH75031,AAH75032,AAB53494,AAB53699,P50607,Q96JS0,Q9H4D2,ABZ92240,NP_003311,NP_813977,CAC14586 Hs.231850,Hs.568986 GDB:4204602 rd5 protein-coding 1607082 TUBA1A tubulin, alpha 1a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to mouse and rat Tuba1 gene. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. 17914564,17584854,17218254,17081983,16941085,15952740,15489334,15121898,14583623,12486001,12477932,12429849,12417528,12052866,11964161,11953448,11842207,11687285,11504633,11163133,11146551,11121746,10908577,10862713,9722999,9553134,9384577,7651436,6646120,3839072,3693406,16148047,15103018,15331610,16327313,15698476,15691386,12639940,12621024,14697242,14594945,14506234,14634002,16945107,16189514 7846 CR593488,CR593739,CR593877,CR593994,CR594034,CR594060,CR594062,CR594066,CR594084,CR594477,CR594550,CR595041,CR595260,CR595385,CR595457,CR595514,CR595876,CR596285,CR596409,CR596417,CR596509,CR596555,CR596750,CR596815,CR596836,CR596908,CR596970,CR596983,CR597413,CR597522,CR597725,CR597918,CR598057,CR598075,CR598102,CR598217,CR598369,CR594647,CR623412,CR623579,CR623663,CR623665,CR623826,CR624073,CR624125,CR624173,CR624183,CR624192,CR624685,CR624772,CR624888,CR625013,CR625134,CR625301,CR625536,CR625764,CR626048,CR626181,CR626392,CR626641,CR626848,K00557,CR598408,CR598412,CR598516,CR598675,CR598719,CR598945,CR598958,CR598973,CR598989,CR599102,CR599248,CR599543,CR599666,CR599962,CR600079,CR600113,CR600126,CR600172,CR600175,CR600236,CR600237,CR600390,CR600829,CR600854,CR600932,CR601427,CR601535,CR601584,CR601586,CR601913,CR601951,CR602040,CR602196,CR602360,CR602663,CR602723,CR602775,CR602824,CR602913,CR603584,CR603604,CR603623,CR603752,CR603942,CR603945,CR603969,CR604006,CR619222,CR619445,CR619454,CR619513,CR619658,CR619898,CR619965,CR620189,CR620195,CR620492,CR620710,CR620745,CR620793,CR620859,CR621097,CR621215,CR621268,CR621574,CR621641,CR621713,CR621897,CR621901,CR622155,CR622451,CR622543,CR622591,CR622843,CR623135,CR604014,CR604076,CR604072,CR604467,CR604529,CR604534,CR604714,CR604782,CR604788,CR605154,CR605195,CR605304,CR605308,CR605491,CR605536,CR605616,CR605985,CR606118,CR606121,CR606172,CR606863,CR606938,CR606970,CR607118,CR607200,CR607235,CR607284,CR607378,CR607379,CR607806,CR607886,CR607887,CR607938,CR607971,CR608160,CR608373,CR608399,CR608442,CR608525,CR608614,CR608804,CR608850,CR608895,CR608967,CR609323,CR609424,CR609686,CR609811,CR610065,CR610101,CR610265,CR610612,CR610649,X01703,AF141347,AF141348,AK057842,AK289483,BC006468,BC050637,BC057823,CR590305,CR590348,CR590541,CR590784,CR590896,CR590950,CR590984,CR591011,CR591133,CR591241,CR591275,CR610674,CR610761,CR611043,CR611047,CR611222,CR611347,CR611610,CR611647,CR612458,CR612520,CR612526,CR612699,CR612808,CR612996,CR613002,CR613183,CR613508,CR613952,CR614113,CR614118,CR614212,CR614316,CR614334,CR614350,CR614378,CR614551,CR614572,CR615075,CR615137,CR615166,CR615205,CR615495,CR615697,CR615711,CR615724,CR616032,CR616036,CR616051,CR616068,CR616370,CR616371,CR616410,CR616525,CR616625,CR616875,CR616897,CR616952,CR616965,CR616978,CR616979,CR616980,CR617030,CR617729,CR617789,CR617927,CR618187,CR618255,CR618339,CR618385,CR618500,CR618708,CR618711,CR618736,CR618788,CR618923,CR618941,CR619179,NM_006009,AC010173,CH471111,CR591424,CR591464,CR591504,CR591515,CR591653,CR591654,CR591655,CR592034,CR592062,CR592123,CR592132,CR592146,CR592293,CR592430,CR592537,CR592605,CR592638,CR592696,CR592708,CR593029,CR593050,CR593163,CR593244,CR593264,CR593317,CR593320 AAA91575,Q71U36,Q9UQM3,ABM92196,ABW03282,EAW58055,CAA25855,AAD33871,AAD33872,BAF82172,AAH06468,AAH50637,NP_006000,EAW58052,EAW58053,EAW58054 Hs.654422,Hs.707503 B-ALPHA-1|FLJ25113|LIS3|TUBA3 protein-coding 1603700 TUBA1B tubulin, alpha 1b 18195004,17628775,15592455,15489334,14702039,12750376,12486001,12477932,12087096,12054644,11953448,11826099,11580271,11535601,11532003,11146551,11082048,10908577,10840040,9372968,8895530,8619814,8098743,8097117,7651436,7592789,6646120,16148047,15103018,15331610,15698476,15691386,16189514,15806149,14697242 10376 CR590711,CR590724,CR590894,CR590951,CR591067,CR591119,CR591179,CR591428,CR591771,CR591890,CR592278,CR592391,CR592524,CR592575,CR592687,CR592813,CR592843,CR592845,CR592846,CR592985,CR593171,CR593380,CR593419,CR593762,CR593846,CR594053,CR594074,CR594077,AC011603,CH471111,AF081484,AK026516,AK026632,AK056693,AK057773,AK094717,AK098357,AK098635,AK098771,AK289354,BC000696,BC001128,BC006379,BC006481,BC008659,BC009314,BC009509,BC009512,BC009513,NM_006082,CR604505,CR604756,CR605007,CR605211,CR605348,CR605691,CR605932,CR606063,CR606298,CR606361,CR606765,CR606942,CR607102,CR607151,CR607495,CR607582,CR607620,CR607750,CR607884,CR607910,CR607987,CR608236,CR608386,CR609140,CR609219,CR609413,CR609668,CR609718,CR609934,CR609944,CR610060,CR610163,CR610291,CR610313,CR610425,CR610502,CR610660,CR611370,CR611376,CR611475,CR611507,CR611532,CR611737,CR611786,CR611829,CR611830,CR611855,CR611979,CR612379,CR612398,CR612428,CR612445,CR612505,CR612715,CR612797,CR612840,CR612923,CR613007,CR613187,CR613273,CR613561,CR613608,CR604402,BC010494,BC011572,BC015883,BC017004,BC018948,BC021564,BC030820,BC071904,BF979331,CR590002,CR590282,CR590442,CR590455,CR590534,CR590544,CR590547,CR594096,CR594788,CR594632,CR595149,CR595240,CR595471,CR595709,CR595808,CR596428,CR596531,CR596686,CR596691,CR596709,CR596758,CR596951,CR597064,CR597129,CR597298,CR597427,CR597437,CR597539,CR597794,CR597815,CR597950,CR598221,CR598224,CR598300,CR598670,CR599074,CR599177,CR599677,CR599735,CR600193,CR600315,CR600393,CR600417,CR600538,CR600567,CR600593,CR600622,CR600842,CR600993,CR601121,CR601501,CR601611,CR601733,CR601856,CR601945,CR601948,CR602147,CR602181,CR602330,CR602349,CR602392,CR602450,CR602495,CR602654,CR602710,CR602735,CR602870,CR602889,CR603156,CR603274,CR603283,CR603658,CR603730,CR603766,CR603773,CR603824,CR603952,CR604178,CR613742,CR613821,CR614024,CR614038,CR614069,CR614072,CR614523,CR614796,CR614914,CR614999,CR615371,CR615392,CR615512,CR615587,CR615656,CR615774,CR615776,CR616095,CR616115,CR616213,CR616228,CR616286,CR616313,CR616522,CR617007,CR617050,CR617067,CR617138,CR617205,CR617226,CR617228,CR617719,CR617740,CR617924,CR618128,CR619075,CR619248,CR619455,CR619461,CR619531,CR619775,CR620270,CR620299,CR620382,CR620811,CR620919,CR621168,CR621370,CR621394,CR621408,CR621573,CR621886,CR621902,CR622154,CR622622,CR622900,CR623078,CR623177,CR623652,CR623786,CR623790,CR624068,CR624242,CR624272,CR624313,CR624469,CR624752,CR625049,CR625253,CR625303,CR625399,CR625436,CR625601,CR625662,CR625844,CR625994,CR625995,CR626337,CR626816,DQ400107,K00558,S62639,Z36832 NP_006073,EAW58048,EAW58049,AAC31959,BAF82043,AAH00696,AAH01128,AAH06379,AAH06481,AAH08659,AAH09314,AAH09509,AAH09512,AAH09513,ABM82424,ABM85615,AAH10494,AAH11572,AAH15883,AAH17004,AAH21564,AAH30820,AAH71904,ABD60581,AAA91576,P68363,Q8WU19,Q9BUX9 Hs.524390 K-ALPHA-1 protein-coding 1606486 TUBA1C tubulin, alpha 1c 17373842,17081983,16236267,15592455,15489334,12486001,12477932,12090300,10908577,9373149,8125298,7821789,1602151,16148047,15103018,15331610,16327313,15698476,15691386 84790 NM_032704,AC125611,CH471111,AK223024,BC004949,BC005946,BC011790,BC019298,BC021088,BC033064,BC051297,BC063036,CR595837,CR599151,CR599275,CR599812,CR603141,CR605574,CR610386,CR613152,CR624182,D28390 NP_116093,EAW58057,BAD96744,AAH04949,AAH05946,AAH11790,AAH19298,AAH21088,AAH33064,AAH51297,AAH63036,BAA05756,Q53GA7,Q8N532,ABM83912,ABM87234,Q9BQE3 Hs.652390 MGC10851|MGC14580|TUBA6|bcm948 protein-coding 1605119 TUBA3C tubulin, alpha 3c Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. 12477932,16189514,15489334,15324660,15057823,14760703,12486001,10908577,10840040,10036193,9722999,9465305,9372968,8566014,8530067,7651436,15103018,16148047,15331610,16327313,15698476,15691386,14583623,14743216,11953448,11826099,11535601,11278332,11163133,11146551,11121746,11082048 7278 NM_006001,AF005392,AL139327,CH471075,DQ422808,BC011721,L11645 NP_005992,AAC39578,CAH73534,EAX08210,EAX08211,ABD72607,AAH11721,AAA35521,Q13748,Q1ZYQ1,AAX29832,ABM83795,ABM86864 Hs.349695 GDB:134694 TUBA2|bA408E5.3 protein-coding 1606186 TUBA3D tubulin, alpha 3d 14702039,12477932,3785200 113457 NM_080386,AC073869,K03460,AK093116,AK292253,AW966211,BC057810 NP_525125,AAA36785,BAF84942,AAH57810,Q15670 Hs.503749 H2-ALPHA protein-coding 1604550 TUBA3E tubulin, alpha 3e 12477932 112714 AC018804,AA397983,AK131043,BC057811,NM_207312 AAH57811,Q6PEY2,NP_997195 Hs.433336 protein-coding 1344170 TUBA4A tubulin, alpha 4a Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. 14697242,16257120,16169070,16039987,15934946,15659558,15592455,15489334,15345747,15324660,15184364,15129282,14702039,14634002,14594945,12749852,12716939,12639963,12639940,12620231,12486001,12482968,12477932,12377379,12353262,12134159,12087096,12054644,12052837,12024216,11964161,1657993,15103018,16148047,15331610,16327313,15698476,15691386,16189514,12963086,11166179,15205320,11953448,11942621,11563969,11278895,11163133,11146551,11121746,10942575,10908577,10191277,10037711,9922135,9885248,9722999,9593747,9265649,8856662,8631991,8617742,8566014,8530437,8325901,8294455,7878030,7744867,7651436,3839072,3785200,3029670 7277 NM_006000,AC068946,AY895018,CH471063,X06956,AK054731,BC009238,BC018854,BT006731,CR609291,CR620681,CR626582 P68366,ABM84750,NP_005991,AAW65371,EAW70718,EAW70719,CAA30026,AAH09238,AAP35377 Hs.75318 GDB:119621 FLJ30169|H2-ALPHA|TUBA1 tubulin, alpha 1 (testis specific) protein-coding 1345961 TUBA4B tubulin, alpha 4b (pseudogene) 1580863 14702039,12486001,12477932,10908577,3785200,10862698,14743216 80086 NR_003063,AC068946,CH471063,AK024002,BC121126,BC121127 EAW70720,EAW70721,BAB14767,Q9H853 Hs.664469 GDB:11508116 FLJ13940|TUBA4 tubulin, alpha 4 pseudo 1352677 TUBA8 tubulin, alpha 8 1580863 16380905,15489334,15461802,14702039,12486001,12477932,11953448,11146551,10908577,10840040,10772959,10591208,9885248,7651436,16148047,15103018,15331610,16327313,15698476,15691386 51807 CR456600,CR620426,CR621131,NM_018943,AC008079,AC016027,CH471193,AJ245922,AK056947,BC074827,BC104845,BX537702 CAG30486,Q7Z3M3,Q9NY65,CAK54631,CAK54930,NP_061816,EAW57788,EAW57789,CAB88036,AAH74827,AAI04846,CAD97815 Hs.137400 GDB:11502184 TUBAL2 protein-coding 1344639 TUBAL1 tubulin, alpha-like 1 2444926 7279 GDB:120473 1313230 TUBAL3 tubulin, alpha-like 3 1580863 12477932 79861 NM_024803,AL683826,CH471072,AK025318,BC098247,BC099716,BC105634 NP_079079,CAI23625,EAW86447,BAB15110,AAH98247,AAH99716,AAI05635,A6NHL2 Hs.163079 FLJ21665|MGC119347|MGC119349 protein-coding 1342822 TUBAP tubulin, alpha pseudogene 10830953 54016 NG_000900,AP000459 GDB:10796455 pseudo 1347988 TUBAP2 tubulin, alpha pseudogene 2 79259 GDB:11508118 1606428 TUBB tubulin, beta 11120798,16130169,17869412,17569113,17488662,17389232,16941085,16702430,16380805,16371510,15592455,15489334,15120663,15003198,12893435,12826311,12477932,12209587,11504633,9110174,8619474,8270253,6865944,6688039,3782288,16526095,12639940,12620231,12872123,12966166,14594945,14603253,12482968,15331635,12052837,12884273,9553134,9581762,10722852,10191277,1629950,9629920,9922135,11278895,9886087 203068 AB088100,AB103606,AB202098,AL662797,AL662848,AL845353,BA000025,BX248307,BX927283,CH471081,CR759873,CR788240,CR936878,NM_178014,J00314,AB062393,AF070561,AF070593,AF070600,AF141349,AK098772,BC001002,BC001896,BC001938,BC002347,BC005838,BC007605,BC013374,BC015889,BC019924,BC020946,BC021909,BC029323,BC062532,BC070326,BC103746,CR590041,CR590449,CR590523,CR591033,CR591054,CR591348,CR591420,CR591614,CR591713,CR591865,CR592478,CR592844,CR593116,CR593906,CR594368,CR594478,CR594628,CR594633,CR594701,CR594975,CR595089,CR595191,CR595241,CR595266,CR595288,CR595417,CR595490,CR595719,CR595961,CR595996,CR596111,CR596206,CR596247,CR596256,CR596434,CR596438,CR596484,CR596510,CR596743,CR597262,CR597459,CR624075,CR624306,CR624565,CR624578,CR624579,CR624717,CR624775,CR625151,CR625193,CR626264,CR626370,CR626396,CR626650,CR626716,CR626734,CR626769,CR626833,DQ457058,EF036509,V00599,CR623850,CR597982,CR598038,CR598257,CR598285,CR598437,CR598513,CR599140,CR599197,CR599205,CR599452,CR599668,CR599767,CR600522,CR600785,CR600934,CR600973,CR601013,CR601330,CR601344,CR601589,CR601607,CR601668,CR602045,CR602389,CR602430,CR602712,CR603136,CR603160,CR603542,CR603568,CR603644,CR603794,CR603884,CR604162,CR604556,CR604712,CR604797,CR604912,CR605261,CR605680,CR605815,CR605898,CR606296,CR606806,CR607031,CR607126,CR607420,CR607488,CR607608,CR607721,CR607899,CR608555,CR608598,CR608670,CR608834,CR609320,CR609662,CR609663,CR609910,CR609919,CR610589,CR610704,CR610783,CR610813,CR610916,CR611048,CR611055,CR611872,CR611874,CR612087,CR612441,CR612543,CR612751,CR612807,CR612875,CR612988,CR613167,CR613213,CR613221,CR613623,CR613923,CR614275,CR614355,CR614676,CR615095,CR615134,CR615318,CR615486,CR615817,CR616054,CR616066,CR616207,CR616650,CR616894,CR616992,CR617111,CR617178,CR617269,CR617649,CR617680,CR617749,CR617779,CR611118,CR618102,CR618191,CR618223,CR618338,CR618797,CR619202,CR619520,CR619635,CR619725,CR619755,CR620097,CR620192,CR620286,CR620319,CR620403,CR620593,CR620650,CR620673,CR620727,CR620764,CR620784,CR620946,CR621096,CR621201,CR621356,CR621493,CR621812,CR621916,CR622048,CR622219,CR623734 NP_821133,BAC54932,BAF31267,BAE78618,CAI18196,CAI18197,CAM25516,CAI17441,CAI17442,CAI41892,CAI41893,CAI41894,BAB63321,CAM25933,CAQ06774,EAX03322,EAX03323,EAX03324,CAQ08695,CAQ07576,AAB59507,BAB93480,AAC28642,AAC28650,AAC28654,AAD33873,AAH01896,AAH01938,AAH02347,AAH05838,AAH07605,AAH13374,AAH15889,AAH19924,AAH20946,AAH21909,AAH62532,AAH70326,AAI03747,CAQ06818,ABE96641,ABO65095,CAA23844,P07437,Q1KSF8,Q5ST81,Q6LC01,Q6P602,Q96B85,Q9BUU9,ABM82668,ABM82754,ABM85846 Hs.636480,Hs.706187,Hs.706772 GDB:119622 M40|MGC117247|MGC16435|OK/SW-cl.56|TUBB1|TUBB5 protein-coding 1345439 TUBB1 tubulin, beta 1 1580863 17993481,17488662,16095531,15956286,15489334,15315966,15304323,12665801,12486001,12477932,11790298,11780052,10908577,16526095,15331610,15698476,15691386,14583623 81027 NM_030773,AL109840,CH471077,AJ292757,BC033679,BI821931 NP_110400,CAC09371,EAW75447,CAC16605,AAH33679,Q9H4B7 Hs.592143 GDB:11508120 dJ543J19.4 protein-coding 1347978 TUBB2A tubulin, beta 2A 1580863 17373842,15548702,15489334,15331635,15324660,15304323,15188402,15121898,15082789,14760703,14634002,14603253,14594945,14583623,14574404,12966166,12963728,12884273,12872123,12861402,12855424,12840015,12716939,12639963,12639940,12486001,12482968,12477932,12353262,12214803,12211114,12209967,12134159,12064592,12052837,11964161,11870213,11749959,11532003,11278895,11120798,10908577,10722852,10191277,10022909,9973324,9922135,9886087,9629920,9581762,9553134,8856662,8706133,8700896,8530437,8462682,8325901,8270253,8103323,7878030,7744867,7556643,6688039,3782288,1629950,1602151,16526095,15331610,15698476,15691386,16189514,12963086,14743216 7280 NM_001069,AL031963,CH471087,AL038778,AY159127,BC001194,BC018780,BC127873,BC141924,BC141925,CR541958,CR590036,CR590622,CR590780,CR590919,CR591003,CR591244,CR591455,CR592050,CR592130,CR592208,CR592255,CR592533,CR592565,CR592667,CR592945,CR593066,CR593281,CR593437,CR593491,CR593510,CR593534,CR594033,CR594382,CR594523,CR594966,CR594980,CR595313,CR595590,CR605920,CR605559,CR606200,CR606396,CR606676,CR606777,CR606957,CR607116,CR607133,CR607249,CR607801,CR608384,CR609109,CR609227,CR609813,CR609893,CR610063,CR610412,CR610505,CR610781,CR610880,CR610953,CR611682,CR611798,CR611807,CR612041,CR612165,CR612352,CR612353,CR612375,CR612607,CR613025,CR613132,CR613474,CR613824,CR613933,CR613947,CR613984,CR613999,CR614048,CR614414,CR614673,CR615115,CR615252,CR615491,CR615503,CR615691,CR615969,CR616037,CR616211,CR616600,CR616836,CR616964,CR616982,CR617580,CR617681,CR617869,CR618368,CR618382,CR618559,CR618669,CR618681,CR618790,CR619672,CR619702,CR619722,CR619900,CR620206,CR620617,CR620691,CR620713,CR621429,CR622337,CR622339,CR622390,CR622412,CR623067,CR623366,CR624309,CR625133,CR625236,CR625254,CR625591,CR625780,CR625976,CR626259,CR626317,CR626699,X79535,CR595717,CR596047,CR596489,CR596599,CR596844,CR596967,CR597070,CR597215,CR598040,CR598304,CR598514,CR599827,CR599861,CR600111,CR600143,CR600546,CR601063,CR601426,CR601512,CR601857,CR601941,CR602239,CR602730,CR602744,CR603139,CR603230,CR604103,CR604232,CR604438,CR604568 NP_001060,CAD70628,EAW55124,AAN85571,AAH01194,AAH18780,AAI41925,AAI41926,CAG46756,Q5SU16,ABM83269,ABM86644,CAA56071,Q13885 Hs.654543 GDB:9956495 TUBB|TUBB2|dJ40E16.7 tubulin, beta 2 protein-coding 1602407 TUBB2B tubulin, beta 2B 15489334,14574404,12533264,12477932,9110174,8619474,6688039,16526095,14743216 347733 NM_178012,AL445309,CH471087,AF035316,AK289433,AL050056,BC001352,BC063610,BC127872,BT019930,CR456788,CR590037,CR590104,CR590240,CR590307,CR590416,CR590429,CR590652,CR590653,CR590676,CR591286,CR591366,CR591664,CR591809,CR591894,CR591918,CR596784,CR596990,CR597491,CR597723,CR597991,CR598348,CR599206,CR599667,CR599882,CR600540,CR600922,CR600959,CR601336,CR601911,CR602311,CR602345,CR602371,CR602536,CR602873,CR602908,CR603163,CR603523,CR604198,CR604466,CR604564,CR605068,CR605196,CR605374,CR605390,CR605424,CR605619,CR605791,CR605836,CR605873,CR605874,CR605927,CR605990,CR606177,CR606682,CR606926,CR606984,CR607442,CR608223,CR608366,CR608367,CR608434,CR609010,CR609087,CR609249,CR609274,CR609729,CR609966,CR610170,CR610426,CR610542,CR611153,CR611377,CR611389,CR611686,CR611967,CR612034,CR612324,CR612517,CR612605,CR612639,CR613207,CR613666,CR613809,CR613847,CR614155,CR614280,CR614286,CR614345,CR614353,CR614634,CR614813,CR614882,CR616119,CR616638,CR616938,CR617121,CR617426,CR617732,CR617863,CR617967,CR618007,CR618188,CR618743,CR618789,CR618981,CR619349,CR619459,CR619901,CR619903,CR619904,CR619962,CR620844,CR620929,CR621114,CR621150,CR622354,CR622548,CR622864,CR623616,CR624334,CR624485,CR625172,CR625173,CR625191,CR625238,CR625478,CR625504,CR625603,CR626232,CR626714,CR626726,CR626843,CR626852,CR592053,CR592604,CR592873,CR593421,CR593508,CR593815,CR593818,CR593832,CR594252,CR594283,CR594462,CR594635,CR594802,CR594987,CR594990,CR595079,CR595489,CR595582,CR595718,CR595993,CR596135,CR596224,CR596723,CR596738 NP_821080,CAI40952,EAW55125,EAW55126,EAW55127,EAW55128,AAB88188,BAF82122,CAB43252,AAH01352,AAH63610,AAI27873,AAV38733,CAG33069,O43209,Q9BVA1,Q9UGA2 Hs.300701 DKFZp566F223|MGC8685|RP11-506K6.1|TUBB-PARALOG|bA506K6.1 protein-coding 1601774 TUBB2C tubulin, beta 2C 11120798,16130169,18384219,17081983,16169070,15952740,15635413,15489334,14760703,14702039,14594945,12927047,12486001,12477932,12052866,12037579,11118478,10908577,3999141,3782288,2461292,16526095,15331610,15698476,15691386,16189514 10383 NM_006088,BX255925,CH471090,X02344,AK000560,AK021414,AK026167,AK026594,AK026609,AK098686,AY167990,BC001911,BC002783,BC002885,BC004188,BC007889,BC008006,BC012835,BC019359,BC019829,BC024038,BC029529,BC039175,BC071889,BX648521,CB139156 NP_006079,CAM24148,EAW88368,EAW88369,EAW88370,CAA26203,AAN87335,AAH01911,AAH02783,AAH02885,AAH04188,AAH07889,AAH08006,AAH12835,AAH19359,AAH19829,AAH24038,AAH29529,AAH39175,AAH71889,P68371,Q8IWP6,Q8IZ29,Q8N6N5,Q96HX0 Hs.433615 TUBB2 protein-coding 1347965 TUBB3 tubulin, beta 3 1580863 18178340,17714470,17543088,17406983,17289895,16816122,16675570,16463023,16344560,16061864,15671559,15489334,14702039,12905530,12789263,12486001,12477932,12473109,10908577,9473684,9373149,8619990,8125298,8098743,7789418,2461292,16526095,15331610,15698476,15691386 10381 CR604723,CR604865,CR605022,CR605315,CR605372,CR605618,CR605687,CR605928,CR606534,CR607807,CR607915,CR608519,CR609278,CR609285,CR609372,CR609561,CR609873,CR609931,CR610428,CR610920,CR610945,CR611346,CR611692,CR612113,CR612703,CR613212,CR613333,CR613956,CR604583,CR614150,CR614385,CR614638,CR614854,CR615484,CR615487,CR615754,CR615850,CR615967,CR616005,CR616091,CR616697,CR617597,CR617704,CR618148,CR618463,CR618719,CR619366,CR619439,CR620404,CR620633,CR621602,CR622595,CR622759,CR622839,CR623379,CR623384,CR623445,CR623719,CR624149,CR624252,CR625137,CR625315,CR625316,CR625914,CR626587,S62643,U47634,CR624879,CR592791,CR593269,CR593464,CR594063,CR594431,CR594464,CR594636,CR595448,CR595964,CR596211,CR596446,CR596505,CR596786,CR597505,CR598025,CR598043,CR598551,CR599272,CR599992,CR600094,CR600096,CR600381,CR600906,CR601082,CR601754,CR601914,CR601978,CR603177,CR603504,CR603509,CR603741,CR603943,CR604020,CR604086,CR604211,AF427491,AK058140,AK122757,AK127418,AK223039,AK292219,AU142509,BC000748,BC001678,CH471184,BC003021,BC047518,BC064975,BT006971,CD621827,CR590075,CR590351,CR590708,CR590783,CR591503,CR592025,CR592245,CR592535,CR592610,NM_006086,AB241541,AB241542,AB241543,AB241545,AB241546,AB241547,AB241549,AC092143,AF529884,AY363621,AY363622,AY363623,AY363624,AY363625,AY363626,AY363627 AAC52035,Q13509,Q1JUL6,Q1JUL8,Q1JUL9,Q1JUM0,Q1JUM2,Q1JUM3,Q1JUM4,Q3ZCR3,Q53G92,Q6UR92,Q6UR93,Q6UR94,Q6UR95,Q6UR96,Q6UR97,Q6UR98,Q7KZS6,Q86YW1,Q9BV28,EAW66669,EAW66675,AAL28094,BAD96759,BAF84908,AAH00748,AAH01678,AAH03021,AAH47518,AAP35617,NP_006077,BAE94307,BAE94308,BAE94309,BAE94311,BAE94312,BAE94313,BAE94315,AAO21073,AAQ62971,AAQ62972,AAQ62973,AAQ62974,AAQ62975,AAQ62976,AAQ62977 Hs.511743 MC1R|TUBB4|beta-4 protein-coding 1348861 TUBB4 tubulin, beta 4 1580863 16565220,16303743,15489334,15324660,15188402,15121898,14702039,12840015,12486001,12477932,11120798,10908577,8619814,6865944,6462917,3782288,16526095,15331610,15698476,15691386,14743216 10382 NM_006087,AC010503,CH471139,CQ783906,X00734,AK075307,AK095202,BC006570,BC013683 NP_006078,EAW69078,EAW69079,CAF86918,CAA25318,AAH06570,AAH13683,P04350 Hs.110837 GDB:9956493 TUBB5|beta-5 protein-coding 1344969 TUBB4Q tubulin, beta polypeptide 4, member Q 1580863 10828619,11731935,10512680,16526095 56604 NM_020040,XM_001713864,AF146191,AF355124,CH471056,U83668,U83110 NP_064424,XP_001713916,EAX04599,AAB48456,AAB41497,Q99867,AAI40319,AAI46476 Hs.351544 GDB:10796894 protein-coding 1343714 TUBB6 tubulin, beta 6 737633 15489334,14702039,12477932,16526095,15331610,12486001,10908577,14743216 737633 84617 NM_032525,AP005264,CH471113,AK001295,AK022340,AK092677,BC002654,BC111374,CR593665,CR593961,CR594370,CR595733,CR605380,CR607214,CR614714,CR616368,AK098440 NP_115914,EAX01553,EAX01554,BAB14016,AAH02654,AAI11375,Q2NKY5,Q9BUF5,ABM84412,ABM87393 Hs.193491 HsT1601|MGC132410|MGC4083|TUBB-5 protein-coding 1605531 TUBB8 tubulin, beta 8 12477932,11731935,10828619,16526095,12486001,10908577,14743216 347688 NM_177987,AF355127,AL713922,CH471072,BC101270,BC101271,CR590375,CR591556,CR592105,CR592383,CR592639,CR599052,CR600137,CR601851,CR603249,CR603378,CR605516,CR606225,CR612709,CR614889,CR621858,CR626121 NP_817124,AAL32434,CAI16219,CAI16220,CAI16221,EAW86544,EAW86545,EAW86546,AAI01271,AAI01272,Q3ZCM7,Q5SQY1,AAI56320,AAI57067 Hs.532659 FLJ40100|RP11-631M21.2 protein-coding 1343237 TUBBP1 tubulin, beta pseudogene 1 7070533 7281 NG_001206,J00317 GDB:119623 tubulin, beta polypeptide pseudogene 1 pseudo 1348067 TUBBP2 tubulin, beta polypeptide pseudogene 2 1685473 7282 XM_087939 GDB:120474 1349884 TUBBP3 tubulin, beta pseudogene 3 326106 NG_002529,AL445383 pseudo 1352539 TUBBP4 tubulin, beta polypeptide pseudogene 4 493816 1346990 TUBBP5 tubulin, beta pseudogene 5 11731935 203232 NG_002336,AF355123 tubulin, beta polypeptide pseudogene 5 pseudo 1323696 TUBD1 tubulin, delta 1 1580863 10620804,15489334,15081367,14702039,12477932,12047234,10753753 51174 NM_016261,AC004686,CH471109,AB030837,AB031044,AB031045,AF201333,AK022771,AK024096,AK024741,BC000258,BG682935 NP_057345,EAW94385,EAW94386,EAW94387,EAW94388,EAW94389,BAD16590,BAD83580,BAD83581,AAF09584,BAB14825,AAH00258,Q5KU36,Q5KU37,Q9UJT1 Hs.463638 FLJ12709|TUBD protein-coding 1314442 TUBE1 tubulin, epsilon 1 This beta-like tubulin localizes to the peri-centriolar material in a cell cycle-dependent way. It first localzizes to the older centrosome in a newly duplicated pair, but then associates with both. Although the gene was reported to map to chromosome 17, it appears to lie on chromosome 6q. 1580863 10620804,15489334,12477932 51175 NM_016262,CH471051,Z99289,AF201334,AK026242,BC025405,BC031101,CR609343,CR613971 NP_057346,EAW48272,CAI42326,CAI42327,CAI42328,AAF09585,AAH25405,AAH31101,Q5H8W8,Q5H8W9,Q9UJT0,ABM82429,ABM85621 Hs.34851 FLJ22589|TUBE|dJ142L7.2 protein-coding 732715 TUBG1 tubulin, gamma 1 1580863,1626306 15489334,14603253,12477932,12221128,11950600,11942621,11840567,11790298,11691781,11237715,11082048,10903841,10840040,9789027,7592789,7490091,14767062,12639940,14594945,15280373,16189514,11003675,10191277,9566969,17286961,1904010,17406983,17102634,16464125,15917813 1626306 7283 NM_001070,AC067852,BC000619,BT019931,CR407642,CR590773,CR592317,CR592407,CR597415,CR598475,CR599618,CR602961,CR603755,CR604046,CR604804,CR607198,CR609289,CR620017,CR623993,CR625410,CR626772,M61764 NP_001061,AAH00619,AAV38734,CAG28570,AAA52620,P23258,Q53X79,ABM82851,ABM86036 Hs.279669 GDB:128600 TUBG|TUBGCP1 protein-coding 1349876 TUBG1P tubulin, gamma 1 pseudogene 10903841 27174 GDB:10795971 1316944 TUBG2 tubulin, gamma 2 1580863 10903841,15489334,14702039,12477932,11237715,10840040,9566969,9373149,8125298,14767062,16189514 27175 NM_016437,AC067852,AF225971,AK022324,AK225134,BC009670,BC051890,BC052283,BC108739,CR602914,CR605839,CR611337,CR611393,CR615504,CR623455,CR623937 NP_057521,AAF34188,BAB14012,AAH09670,AAH51890,AAI08740,Q9NRH3 Hs.708059 GDB:10795973 MGC131994 protein-coding 1320019 TUBGCP2 tubulin, gamma complex associated protein 2 1580863 9566967,15592455,15489334,14759258,14702039,12477932,12221128,11694571,9373149,8125298,7566098,14743216 10844 NM_006659,AL360181,AL592071,CH471211,AA377890,AF042379,AK092113,AK096087,AK223586,BC005011,BC010373,BC052368,BC093770,BC111957,CK818507 NP_006650,CAH70275,EAW61327,EAW61328,AAC39728,BAD97306,AAH52368,AAH93770,AAI11958,Q53EQ3,Q5SXY9,Q5VWX6,Q5VWX7,Q86U96,Q9BSJ2 Hs.523370 GDB:9959030 GCP2|MGC138162|SPBC97|Spc97p protein-coding 1313927 TUBGCP3 tubulin, gamma complex associated protein 3 1580863 9566969,15489334,15057823,12477932,12221128,11694571,9566967,16189514 10426 NM_006322,AL139384,AL160033,CH471085,AF042378,AJ003061,AJ003062,BC007763,BC013781,BC046634,BT009772,CR616288,L13800,L13801 NP_006313,CAI14455,CAI14456,EAX09163,EAX09164,EAX09165,EAX09166,AAC39727,CAA05832,CAA05833,AAH07763,AAH13781,AAH46634,AAP88774,Q5T8L2,Q5T9Y2,Q96CW5,ABM81998,ABM85181 Hs.224152 GDB:9956972 GCP3|SPBC98|Spc98p protein-coding 1603663 TUBGCP4 tubulin, gamma complex associated protein 4 10562286,16189514,15489334,14702039,12477932,11694571 27229 BC009870,BC012801,CR625944,NM_014444,AC018924,CH471125,AJ249677,AK001639,AK026551,AK027703,AK127306,BC000966 AAH09870,AAH12801,Q6ZSM2,Q9BVR6,Q9UGJ1,ABM87016,ABW03851,NP_055259,EAW92603,CAB62539,BAA91802,BAC86926,AAH00966 Hs.654843 76P|FLJ14797|GCP4 protein-coding 1312280 TUBGCP5 tubulin, gamma complex associated protein 5 1580863 11694571,16982806,15489334,15342556,14702039,14508708,12477932,11572484 114791 AB067486,AF272884,AK023934,AK056416,AK289859,BC039271,BC046182,BC071560,BP362649,CR595247,NM_052903,NM_001102610,AC116166,CH471258 EAW65557,BAB67792,AAK77662,BAF82548,AAH46182,AAH71560,Q96RT8,NP_443135,NP_001096080,EAW65556 Hs.533898 GDB:11510285 GCP5|KIAA1899 protein-coding 1317114 TUBGCP6 tubulin, gamma complex associated protein 6 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. 1580863 11694571,17182859,15489334,15302935,15146197,12477932,11258795,10591208 85378 NM_020461,AL022328,CH471138,AB051456,AF272887,AK000636,AL137665,AL832617,BC004127,BC023573,BC035709,BC042165,BC113849,BC114457,BC127614,BC150613,BC151209,CN333235 NP_065194,EAW73507,EAW73508,EAW73509,EAW73510,BAB33339,AAK82968,AAH23573,AAH42165,AAI14458,AAI27615,AAI50614,AAI51210,Q1WWM1,Q96RT7 Hs.336431 GDB:11510287 GCP6 protein-coding 1313566 TUFM Tu translation elongation factor, mitochondrial This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. 1580863 17353931,9332382,17160893,17033963,16632485,15952740,15635413,15489334,12665801,12577067,12477932,11790298,11741979,9545647,8547323,7828719 7284 BC001633,BC010041,CA420396,CR593603,CR608035,CR609861,CR615703,CR621980,L38995,S75463,X84694,NM_003321,AC133550,CH471267 EAW51998,AAH01633,AAH10041,AAB00499,AAC60647,CAA59169,P49411,NP_003312,EAW51997 Hs.12084 GDB:6045055 COXPD4|EF-TuMT|EFTU|P43 protein-coding 1351371 TUFML Tu translation elongation factor, mitochondrial-like 9545647 645668 NG_006578,AC069061,Y11796 GDB:6045056 pseudo 1321243 TUFT1 tuftelin 1 1580863 12489194,11256614,16710414,15489334,14702039,12975309,12477932,11733143,11230166,11076863,11062985,10806191,9373149,8125298,7919663 7286 NM_001126337,AF254860,AL365436,CH471121,CQ782987,AF254260,AK026989,AK075001,NM_020127,AK223161,AL136917,AY358610,BC002933,BC008301 NP_064512,NP_001119809,AAF78914,CAI16591,CAI16592,EAW53429,EAW53430,EAW53431,EAW53432,EAW53433,CAF86208,AAF78913,BAB15615,BAC11346,BAD96881,CAB66851,AAQ88973,AAH02933,AAH08301,Q0JTM8,Q53FX0,Q6UWW7,Q9NNX1,CAL38134,ABM84116,ABM84609,ABM87804 Hs.489922 GDB:207618 protein-coding 1605999 TUG1 taurine upregulated gene 1 15797018,15146197,14702039,12477932,8889548 55000 NR_002323,AC004542,AB073661,AI186830,AK000625,AK000749,AK056480,AK057695,BC037986,BM461799,BM719085,BM806212,BQ000368,BU540086,CB127883,CD556251,CN395940,CR594262,CR623819 Hs.554829 FLJ20618|MGC46067 miscrna 1322319 TULP1 tubby like protein 1 This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with retinitis pigmentosa. 1624352,1580863 7987322,1000483,9462750,17962469,17620573,17286855,15557452,15489334,15146197,12477932,11481257,10607826,10549638,10440267,9660588,9521870,9462751,9096357 1624352 7287 NM_003322,AF034923,AL033519,CH471081,BC032714,BC065261,CN355966,DQ426893,U82468 NP_003313,AAB97966,CAI20251,CAI20252,CAI20253,EAX03839,EAX03840,AAH32714,AAH65261,ABD90544,AAB53700,O00294,Q0QD38,Q5TGM5,Q5TGM7,Q5TGM8,ABZ92241 Hs.485208 GDB:6199353 RP14|TUBL1 protein-coding 1321519 TULP2 tubby like protein 2 TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. 1580863 9096357,16189514,12477932 7288 BC026070,U82469,NM_003323,AC026803,CH471177 EAW52410,AAH26070,AAB53701,O00295,Q8TC50,ABM81862,NP_003314 Hs.104636 GDB:6199418 TUBL2 2289232 BW89_H protein-coding 1348382 TULP3 tubby like protein 3 This gene encodes a member of the tubby-like protein (TULP) family. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved C-terminal region of approximately 200 amino acid residues. The human and mouse TULP3 proteins share 69% amino acid sequence identity, with higher identity at the N and C termini than in the central region. 1580863 9828123,15489334,14702039,12477932,10509669,11375483 7289 NM_003324,AC005911,CH471116,AF045583,AK024246,BC019618,BC032587,CR598112 NP_003315,EAW88876,EAW88877,EAW88878,AAC95431,AAH32587,O75386,ABZ92242 Hs.655333 GDB:9837211 MGC45295|TUBL3 protein-coding 1350994 TULP4 tubby like protein 4 1580863 11595174,8612280,14702039,12076535,10718198 56995 NM_020245,NM_001007466,AL353800,AL360169,CH471051,AB037818,AF219946,AF288480,AK092091,BC152476,BE795693 NP_064630,NP_001007467,CAI20993,CAI20994,CAI16559,CAI16560,EAW47661,EAW47662,BAA92635,AAF87975,AAG01020,AAI52477,Q5T3M2,Q5T3M3,Q9NRJ4,AAI66702 Hs.486993 KIAA1397|RP3-442A17.1|TUSP protein-coding 1606109 TUSC1 tumor suppressor candidate 1 This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. 15208665,12477932 286319 NM_001004125,AL590322,CH471071,AY168647,BC017510,BC028316,BC036931,BC046919,BC110824,BM126697,BM126733 NP_001004125,EAW58580,AAO38227,AAH17510,AAH28316,AAH46919,AAI10825,Q2TAM9 Hs.26268,Hs.606014 MGC131751|TSG-9|TSG9 protein-coding 1343391 TUSC2 tumor suppressor candidate 2 This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. 632905,1580863 17353931,17486070,8780057,18172250,18077375,15489334,15126327,14702039,12477932,11593436,11085536 632905 11334 NM_007275,AC002455,CH471055,AF055479,AK124058,BC023976,CR611235,CR612123,CR616581,CR625687 NP_009206,EAW65095,EAW65096,EAW65097,AAC35497,AAH23976,O75896 Hs.517981 C3orf11|FUS1|PAP|PDAP2 protein-coding 1606831 TUSC3 tumor suppressor candidate 3 This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. 12887896,15835887,17641416,16270321,15489334,15231748,14718574,12477932,10097140,9778121,8661104,16189514 7991 NM_006765,AC019292,AC091559,AC100850,CH471080,U42359,U42360,AF028729,AK026149,AY562998,AY562999,BC010370,BT020002,CR593731,NM_178234,AC010656,CR603529,CR603603,CR603864,CR604611,CR606664,CR607966,CR608157,CR608785,CR609898,CR610179,CR611084,CR611813,CR614194,CR615904,CR615974,CR618029,CR619540,CR622631,CR622809,CR624122,CR626212,U42349,CR603172,CR603479,CR594411,CR599656,CR602882 NP_006756,EAW63837,EAW63838,EAW63839,AAB18375,AAB18376,AAS75588,AAS75589,AAH10370,AAV38805,NP_839952,AAB18374,Q13454,Q6Q319,Q6Q320,ABM83862,ABM87184 Hs.591845 D8S1992|MGC13453|N33|OST3A protein-coding 1318978 TUSC4 tumor suppressor candidate 4 737633,1580863 17353931,17018626,16641997,15489334,15374952,14702039,12477932,11980673,11085536 737633 10641 NM_006545,AC002481,CH471055,AF040707,AF040708,AK098161,AK292196,AL833426,BC008802,BC021984,BC050412,BC056861,BC063030,CR542035,CR604291,CR612107 NP_006536,AAB67310,EAW65106,EAW65107,EAW65108,EAW65109,EAW65110,EAW65111,EAW65112,AAC62535,AAC62536,BAF84885,AAH21984,AAH56861,CAG46832,Q6FGS2,Q8WTW4 Hs.437083 NPR2L|NPRL2 protein-coding 1316946 TUSC5 tumor suppressor candidate 5 1580863 17689857,12660825,12477932 286753 NM_172367,AC032044,CH471108,AB090231,AL831929,BC142615 NP_758955,EAW90630,BAC43751,AAI42616,Q8IXB3 Hs.146059 LOST1 protein-coding 1345565 TUT1 terminal uridylyl transferase 1, U6 snRNA-specific TUT1 specifically catalyzes uridylylation of U6 snRNA (RNU6; MIM 180692) and is essential for cell proliferation (Trippe et al., 2006 [PubMed 16790842]).[supplied by OMIM] 737633 18288197,16790842,15489334,14702039,12477932 737633 64852 NM_022830,AP002990,CH471076,AK025920,AK026000,AK292610,BC005013,BC110910,BC128263,CR601843 NP_073741,EAW74029,BAB15282,BAB15314,BAF85299,AAH05013,AAI10911,AAI28264,Q8TER1,Q9H6E5 Hs.256184 FLJ21850|FLJ22267|FLJ22347|MGC131987|MGC149809|PAPD2|RBM21|TUTase|U6-TUTase protein-coding 1323555 TWF1 twinfilin, actin-binding protein, homolog 1 (Drosophila) This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. 7507208,15188402,14702039,12807912,12477932,12429826,12207032,11870207,12775419 5756 NM_002822,AC093012,CH471111,AB209302,AK127868,AK291223,BC022344,BC022491,BC043148,BC068548,BT019691,CR541736,CR541761,U02680 NP_002813,EAW57868,EAW57869,EAW57870,BAD92539,BAF83912,AAH22344,AAH43148,AAH68548,AAV38497,CAG46536,CAG46561,AAC50062,Q12792 Hs.189075 GDB:9773305 A6|MGC23788|MGC41876|PTK9 ptk9 protein tyrosine kinase 9 protein-coding 1354447 TWF1P2 twinfilin 1 pseudogene 2 494555 NG_007309,AL356738 A6ps2|PTK9P2 pseudo 1312984 TWF2 twinfilin, actin-binding protein, homolog 2 (Drosophila) The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. 10406962,17353931,17910947,15592455,15489334,12807912,12477932,11230166 11344 NM_007284,AC006252,AC097637,CH471055,AF109365,AL136773,BC000327,BC003161,BC016452,BI551353,CR456732,CR533520,CR590947,CR591978,CR593060,CR596947,CR598314,CR599346,CR600187,CR601320,CR601397,CR602270,CR603095,CR606881,CR607625,CR608092,CR611569,CR613911,CR614000,CR623204,CR623453,CR626408,Y17169 NP_009215,EAW65194,AAQ13513,CAB66707,AAH00327,AAH03161,AAH16452,CAG33013,CAG38551,CAB38055,Q0JVI0,Q6IBS0,ABM82680,ABM85862 Hs.436439 GDB:9958026 A6RP|A6r|MSTP011|PTK9L ptk9l protein tyrosine kinase 9-like (a6-related protein) protein-coding 1349130 TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila) Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. 1624353,1580863 10025406,8988166,18349132,18297062,18172301,18062917,17987801,17967182,17925286,17893140,17886095,17785550,17690110,17512904,17487558,17414280,17403902,17394502,17343269,17332325,17332324,17236203,17157810,17070479,17003487,16888803,16831897,16737925,16540516,16502419,16412561,16322226,16293629,16229805,15958559,15900593,15880747,15735646,15607966,15555546,15545268,15489334,15313894,15210113,14724576,12853948,12791045,12690205,12553906,12477932,12270142,12218784,12142027,12015302,11977182,11948912,11854168,11754069,11748846,11474656,11062344,10749989,10485844,10465122,9934984,9343420,9259286,9215678,9073070,8995765,8988167,8968762,14513358,7987323,7296937,1433226 1624353 7291 AC003986,CH236948,CH471073,U80998,X91662,Y10871,NM_000474,AW173505,BC036704,CR595340,CR619156,X99268,Y11177,Y11178 AAC60381,EAL24279,EAW93711,AAC50930,CAA62850,CAA71821,NP_000465,AAH36704,CAA67664,Q15672,ABM87769 Hs.66744 ACS3|BPES2|BPES3|SCS|TWIST protein-coding 735468 TWIST2 twist homolog 2 (Drosophila) Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Twist. It is thought that during osteoblast development this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. 1580863 11062344,17487558,15809452,15735646,15489334,14654692,12477932,11809751,10524757,9061034,7589808 117581 NM_057179,AC142117,CH471063,AW072674,BC017907,BC033168,BC103755 NP_476527,EAW71163,EAW71164,AAH17907,AAH33168,AAI03756,Q8WVJ9,ABM83732,ABM87052 Hs.422585,Hs.708196 DERMO1|MGC117334 dermo-1 protein protein-coding 1317243 TWISTNB TWIST neighbor 14702039,12690205,12477932,12438708,12393749 221830 NM_001002926,AC004940,BK000492,CH236948,CH471073,AK090846,BC013179,BC014574,BC056267,BC070358,BC130298,BC130300 NP_001002926,DAA05732,EAL24277,EAW93714,AAH14574,AAI30299,AAI30301,Q3B726 Hs.353035 protein-coding 1322557 TWSG1 twisted gastrulation homolog 1 (Drosophila) 1580863 17164348,16303743,14702039,14681194,12477932,12119341,11420619,11260715,10866189,15775969 57045 NM_020648,AP001033,CH471113,AF196834,AF294628,AJ297391,AK027629,AK075550,BC020490,CR608086 NP_065699,EAX01606,EAX01607,AAG43468,AAG10076,CAC05581,BAB55246,BAC11693,AAH20490,Q9GZX9 Hs.514685 GDB:10796085 TSG protein-coding 1315122 TXK TXK tyrosine kinase 1580863 12477932,12081135,11859127,11353545,10660534,10587356,9813138,9047237,8702662,8632917,7528718,7951233,16809408,16344560,15175272 7294 NM_003328,AC079118,AC096749,CH471069,U07791,U07792,U34379,BC017829,DB103575,L27071 NP_003319,EAW93051,EAW93052,EAW93053,AAA19597,AAA19598,AAB60412,AAA74557,P42681,Q6LD13,Q6LD14,AAI66632 Hs.479669 GDB:377329 BTKL|MGC22473|PSCTK5|PTK4|RLK|TKL protein-coding 1603882 TXLNA taxilin alpha 8327514,17353931,11256614,17015757,16710414,16381901,15489336,15489334,15184072,14743216,14702039,14623251,12558796,12477932,11230166,11076863,9110174,8755619,8619474 200081 NM_175852,AL049795,CH471059,AF070546,AF516206,AK096161,AK096939,AL713662,AL832338,AL832636,AL832637,BC029686,BC046565,BC065263,BC080578,BC103823,BC103824,BC103825 NP_787048,CAI22055,EAX07565,EAX07566,AAO42465,CAH10633,CAD91138,CAD89951,CAD89952,AAH29686,AAH46565,AAH80578,AAI03824,AAI03825,AAI03826,A0AUK0,P40222,Q0JSQ1,Q69YT3,CAL38463 Hs.699306 DKFZp451J0118|IL14|MGC118870|MGC118871|RP4-622L5.4|TXLN protein-coding 1317484 TXLNB taxilin beta 11256614,16381901,15489336,15489334,15184072,15082161,14702039,14574404,12477932,12372618,11230166,11076863 167838 NM_153235,AL158850,AL592434,CH471051,AB085905,AF111704,AK056970,AL831988,AL832322,AL834248,BC115383,BC115384,BX647477,BX647633 NP_694967,CAI42896,CAI42897,CAH73884,EAW47896,EAW47897,EAW47898,EAW47899,BAC92688,AAM12420,CAD91140,CAD38617,CAD38924,AAI15384,AAI15385,CAI45977,CAI45978,Q0JRZ0,Q5HYH7,Q5HYK6,Q8N3L3,Q8TE09,CAL37662,CAL38285,CAL38724 Hs.535820 C6orf198|DKFZp451A175|LST001|MDP77|RP3-522B19.2|dJ522B19.2 chromosome 6 open reading frame 198 protein-coding 732441 TXN thioredoxin Thioredoxin is a 12-kD oxidoreductase enzyme containing a dithiol-disulfide active site. It is ubiquitous and found in many organisms from plants and bacteria to mammals. Multiple in vitro substrates for thioredoxin have been identified, including ribonuclease, choriogonadotropins, coagulation factors, glucocorticoid receptor, and insulin. Reduction of insulin is classically used as an activity test.[supplied by OMIM] 1580782,1580783,1580784,1580785,1580786,1580863 10814541,15480426,10947064,3170595,11517226,16750198,18209488,17982132,17972886,17949784,17917077,17896802,17823364,17724081,17652454,17651689,17634480,17606900,17574940,17557078,16916647,16868544,16766796,16712525,16492688,16424062,16311508,16263712,16207716,16115022,16097034,15894171,15723974,15694802,15507528,15494431,15489334,15128745,15096327,14730345,14703116,14695120,14688353,14644168,14503974,12882768,12878985,12870673,12816947,12804587,12660821,12529245,12477932,12244325,12189205,12119401,12099690,12089063,17369362,17360766,17316609,17220299,17115890,17113580,17045827,17007870,16966583,12029072,12008049,11972307,11841832,11778846,11751890,11118054,11012661,10982790,10585464,10419473,10397171,9915858,9564042,9464857,9433926,9369469,8805557,8736558,8049254,7922028,7821789,7788295,7601465,2785919,2684271,2176490,2001356,1998498,1874447,16507315,11323689,11298454,17353931,15824742,12244106,15234975 1580782,1580783,1580784,1580785,1580786 7295 AF548001,AL158158,CH471105,X54539,AF085844,AF276919,AF313911,AK289508,AY004872,BC003377,BC054866,BX647247,CR407665,CR602033,D28376,J04026,X77584,NM_003329 Q5T937,Q9UDG5,P10599,NP_003320,AAN33187,CAI14066,CAI14067,EAW59059,EAW59060,CAA38410,AAF86466,AAG34699,BAF82197,AAF87085,AAH03377,AAH54866,CAG28593,BAA05742,AAA74596,CAA54687 Hs.435136 GDB:120475 DKFZp686B1993|MGC61975|TRX|TRX1 protein-coding 737462 TXN2 thioredoxin 2 This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. 70610,1580863 9006939,17939155,17634480,17548047,17220299,16868544,16424062,15489334,15461802,12477932,12080052,12032145,10591208 70610 25828 NM_012473,AL022313,CH471095,AF276920,AF480262,AK130187,BC013726,CR456601,CR541896,CR541917,CR593318,CR617907,U78678,BC050610 NP_036605,EAW60103,EAW60104,AAF86467,AAN05576,AAH13726,AAH50610,CAG30487,CAG46694,CAG46715,AAB41631,Q6FH60,Q99757,CAK54632,CAK54931,ABM82505,ABM85698,ABM85970 Hs.211929 GDB:11508122 MT-TRX|MTRX|TRX2 protein-coding 1318232 TXNDC1 thioredoxin domain containing 1 TXNDC1 is a thioredoxin (TXN; see MIM 187700)-related protein with disulfide reductase activity (Matsuo et al., 2001 [PubMed 11152479]).[supplied by OMIM] 11152479,17081983,16344560,16303743,15489334,15302935,12975309,12508121,12477932 81542 NM_030755,AL591807,CH471078,AB048246,AK075395,AL080080,AY358640,BC016769,BC032834,BC036460,BC050366,BC056874,BU754378,DA203669 NP_110382,EAW65678,EAW65679,BAB20629,BAC11593,CAB45700,AAQ89003,AAH36460,AAH56874,Q9H3N1,ABM82600,ABM85786 Hs.125221 GDB:11508757 DKFZP564E1962|TMX|TXNDC thioredoxin domain containing protein-coding 1348440 TXNDC10 thioredoxin domain containing 10 737633,1580863 17881353,16381901,15623505,15489336,15489334,14702039,12477932,11347906,11230166,11076863 737633 54495 AK000800,AK025025,AK122715,AL832341,AL832356,BC007690,BC018981,BC032325,BC093792,BC093794,BC107422,BX647846,NM_019022,AC040896,CH471117,AB058733 BAA91381,AAH32325,AAH93792,AAH93794,AAI07423,Q3B7X1,Q96JJ7,CAL38084,CAL38173,NP_061895,EAW66508,EAW66509,BAB47459 Hs.440534 FLJ20793|KIAA1830|TMX3 protein-coding 1348266 TXNDC11 thioredoxin domain containing 11 15561711,15489334,14702039,12477932,9110174,8619474,16189514 51061 NM_015914,AC007613,CH471112,AF131780,AK027464,AK027646,BC002856,BC013727,BC018635,BX648407,CR457152 NP_056998,EAW85142,EAW85143,EAW85144,EAW85145,AAD20043,BAB55129,BAB55262,AAH02856,AAH13727,AAH18635,CAG33433,Q6PKC3 Hs.313847 EFP1 protein-coding 1606291 TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum) TXNDC12 belongs to the thioredoxin superfamily (see TXN; MIM 187700). Members of this superfamily possess a thioredoxin fold with a consensus active-site sequence (CxxC) and have roles in redox regulation, defense against oxidative stress, refolding of disulfide-containing proteins, and regulation of transcription factors (Liu et al., 2003 [PubMed 14557066]).[supplied by OMIM] 15340161,14702039,14557066,12975309,12761212,12477932,9110174,8619474,16710414,16303743,15489334 51060 NM_015913,AL445685,CH471059,CS051213,AF131758,AF543416,AK056169,AK075409,AY358982,BC001493,BC008913,BC008953,CR592480,CR593611,CR611104,CR612587,CR622088 NP_056997,CAI17031,EAX06800,CAI72102,AAD20035,AAN34781,AAQ89341,AAH01493,AAH08913,AAH08953,O95881 Hs.476033 AGR1|ERP18|ERP19|TLP19|hAG-1 protein-coding 1603023 TXNDC13 thioredoxin domain containing 13 17081983,16303743,15489334,14702039,12975309,12477932,11780052,10574461,9373149,8125298 56255 NM_021156,AL021396,CH471133,CS051207,AB032988,AK074838,AK075404,AK226005,AL118494,AY359004,BC021964,BC033787,BC044777,CR598899,CR609977,CR622965 NP_066979,CAC17521,EAX10377,CAI72099,BAA86476,BAC11237,BAC11599,CAB56344,AAQ89363,AAH33787,Q9H1E5 Hs.169358 DJ971N18.2|KIAA1162 protein-coding 1603042 TXNDC14 thioredoxin domain containing 14 16303743,12975309,12670024,12477932,10810093,9373149,8125298 51075 AF059753,AF132965,AK075359,AK223058,AY358501,AY451236,AY451237,BC000666,BC093062,CR609121,CR609173,CR611672,CR611751,CR613099,CR613192,CR614679,CR617247,CR625628,CR590068,CR591318,CR594873,CR595161,CR595701,CR599464,CR599752,CR601411,CR602553,CR602703,CR604249,NM_015959,AP000662,AP001931,CH471076 EAW73779,EAW73780,AAG43122,AAD27740,BAC11569,BAD96778,AAQ88865,AAS66642,AAH00666,Q9Y320,AAH93062,NP_057043,EAW73777 Hs.654965 CGI-31|DKFZp781O2021|MGC111151|PIG26|TMX2 protein-coding 1312290 TXNDC15 thioredoxin domain containing 15 14702039,12975309,12754519,12477932,9373149,8125298 79770 NM_024715,AC006077,CH471062,AK026278,AK056512,AK092425,AK225454,AK225462,AY358649,BC001615,BC032568,BX538131,CR601239,CR613338,CR613370,CR616649 NP_078991,EAW62231,EAW62232,EAW62233,BAB15427,BAB71199,AAQ89012,AAH01615,AAH32568,CAD98032,Q7Z345,Q96J42 Hs.696335 C5orf14|FLJ22625|UNQ335 protein-coding 1315553 TXNDC16 thioredoxin domain containing 16 1580863 14702039,12477932,10718198 57544 NM_020784,AL157971,CH471078,AB037765,AK022563,AK097748,BC137081,BC142650,BC150205,BC152428 NP_065835,EAW65650,EAW65651,BAA92582,BAB14101,AAI37082,AAI42651,AAI50206,AAI52429,Q9P2K2 Hs.532609 KIAA1344 protein-coding 1318890 TXNDC17 thioredoxin domain containing 17 1580863 15489334,15355959,14607844,14607843,12477932,16189514 84817 NM_032731,AC004706,CH471108,AF086210,AJ344101,AK291963,BC006405,BC050406,CA431010,CR599070 NP_116120,EAW90302,CAC51435,BAF84652,AAH06405,Q9BRA2 Hs.408236 MGC14353|TRP14|TXNL5 protein-coding 1352753 TXNDC2 thioredoxin domain-containing 2 (spermatozoa) 11399755,16344560,15489334,14702039,12477932,12387870,11737268,11230166 84203 NM_001098529,NM_032243,XM_001721367,XM_001721366,AC006238,CH471113,AF080095,AK097656,AL136742,BC050132,NM_001098530,BI463874,BI831969,BM554364,DB037693,EF560747 NP_001092000,NP_001091999,NP_115619,XP_001721419,XP_001721418,EAX01593,EAX01594,AAK94950,BAC05133,CAB66676,AAH50132,ABQ59057,Q86VQ3 Hs.98712 GDB:11502182 DKFZp434H0311|MGC35026|SPTRX|SPTRX1 protein-coding 1344206 TXNDC3 thioredoxin domain containing 3 (spermatozoa) TXNDC3 encodes a group II thioredoxin protein, composed of a thioredoxin domain and 3 NDP kinase domains, with testis-specific expression.[supplied by OMIM] 1580863 18471322,17360648,17304710,16642435,15489334,12477932,11768308,11737268 51314 NM_016616,AC018634,CH236951,CH471073,AF202051,AF305596,BC036816 NP_057700,EAW94083,EAW94084,AAF20909,AAN04258,AAH36816,Q8N427 Hs.710629 GDB:11511205 CILD6|NME8|SPTRX2 protein-coding 1319370 TXNDC4 thioredoxin domain containing 4 (endoplasmic reticulum) 1580863 11847130,15308636,17805346,16677073,16303743,15652484,15489334,15164053,14517240,12975309,12477932,11921445,9628581,17353931 23071 NM_015051,AL137072,AL358937,AL360084,CH471105,CQ783816,AB011145,AJ344330,AK075024,AY359048,BC005374,BQ881761,BX648519,CR591222,CR600597,CR602500,CR603204,CR604222,CR605599,CR617616,CR621702 NP_055866,CAH72172,CAI95319,EAW58922,EAW58923,CAF86876,BAA25499,CAC87611,AAQ89407,AAH05374,Q4VXC1,Q9BS26 Hs.591899 GDB:9954737 ERP44|KIAA0573 protein-coding 1313292 TXNDC5 thioredoxin domain containing 5 This gene encodes a protein-disulfide isomerase. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. This gene can be co-transcribed with the upstream gene MU. 1580863 16130169,17895523,16574106,15489334,14702039,14574404,12975309,12963716,12930873,12878160,12477932 81567 NM_022085,NM_030810,AL133541,CH471087,AJ440721,AK025006,AK075291,AK098089,AL833008,AL834423,AY326464,AY358646,BC001199,BC003529,BC052310,CR592427,CR593245,CR606756,CR612583 Q8NBS9,NP_071368,NP_110437,CAI19473,EAW55220,EAW55223,CAD29430,BAC11526,CAH56286,CAD39084,AAR99514,AAQ89009,AAH01199,AAH52310,Q658S9,Q6EHZ3,Q86UY0 Hs.150837 ERP46|EndoPDI|MGC3178|UNQ364 protein-coding 1351445 TXNDC6 thioredoxin domain containing 6 1580863 14713334,14702039,12569107,12477932 347736 NM_178130,AC022337,AC068777,CH471052,AF196568,AK094830,AY336746,BC107054 NP_835231,EAW79073,EAW79074,AAG28497,BAC04430,AAQ16116,AAI07055,Q3KNW3,Q86XW9 Hs.660992 MGC129586|TXL-2|TXL2 protein-coding 1345541 TXNDC8 thioredoxin domain containing 8 (spermatozoa) 15181017,15164053,12477932 255220 NM_001003936,AL158158,CH471105,AF305830,BC035743,BC130549,BC130551 NP_001003936,CAI14069,CAI14070,EAW59061,AAQ14501,AAI30550,AAI30552,Q6A555 Hs.147064 SPTRX-3|TRX6|bA427L11.2 protein-coding 1352767 TXNDC9 thioredoxin domain containing 9 The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. 737633 16169070,15815621,15489334,15009089,12477932,9373149,8125298 737633 10190 NM_005783,AC079447,CH471127,AB006679,AK222616,BC005968,BC022864,BC024223,BC070183,BG772935,BM553565,CR456935,CR601039,CR602941,CR615367,CR622624 NP_005774,AAX93257,EAX01868,EAX01869,EAX01870,EAX01871,BAA21881,BAD96336,AAH05968,AAH22864,AAH24223,AAH70183,CAG33216,O14530,Q53HG4,Q8TB70 Hs.536122 APACD protein-coding 1343574 TXNIP thioredoxin interacting protein 1580789,1642749,1642760,1642758,1642750,1642753,1642756 14632196,18202760,17675577,17671698,17579352,17555594,17472435,17381501,16766796,16723126,16710414,16344560,16301999,15705778,15696199,15537450,15489334,15234975,15231748,15136067,15128745,14766217,12821938,12477932,12386145,12189205,12054598,11753387,11376942,10419473,9207062,8086474 1580789,1642749,1642760,1642758,1642750,1642753,1642756 10628 CR624503,CR625339,DB058019,S73591,AB051901,AF333001,AL138842,AL160282,CH471244,AK226090,AY594328,BC024305,BC093702,BC093704,BF446648,BX404012,BX537824,CR598379,CR608500,CR614030,NM_006472 AAB31977,Q9H3M7,NP_006463,BAB18859,AAK37514,CAI22351,EAW71410,EAW71411,AAT01927,AAH93702,AAH93704 Hs.533977,Hs.708340 GDB:9958058 EST01027|HHCPA78|THIF|VDUP1 protein-coding 1354026 TXNL1 thioredoxin-like 1 1302267,1580863 9473519,9668102,16438969,16236267,16231315,15489334,14702039,12665801,12477932,11985582,10826702 1302267 9352 NM_004786,AC007052,AF143897,CH471096,AB209263,AK094926,BC001156,CR615108,AF003938,AF051896,AF052659 NP_004777,AAF66676,EAW63034,EAW63035,EAW63036,AAC39898,AAH01156,O43396,Q59G46,ABM82772,ABM85960,ABW03441,BAD92500,AAC39599,AAC05830 Hs.114412 TRP32|TXL-1|TXNL|Txl protein-coding 1342505 TXNL3 thioredoxin-like 3 414229 1347193 TXNL4A thioredoxin-like 4A 737633 10610776,17177886,16189514,15840814,15489334,12911302,12477932,11054566,11015569 737633 10907 NM_006701,AC090360,CH471117,AF023611,AF023612,AF146373,BC001046,BC019272,CR621222,CR625676 NP_006692,EAW66639,EAW66640,EAW66641,AAB81950,AAB81951,AAF17332,AAH01046,AAH19272,O14835,P83876 Hs.465498 DIB1|DIM1|HsT161|TXNL4|U5-15kD protein-coding 1344635 TXNL4B thioredoxin-like 4B 737633,1580863 16511018,16142897,15489334,15163659,15161931,14702039,12477932,11015569,9373149,8125298 737633 54957 NM_017853,AC009087,CH471166,AK000518,AK222889,AY566808,BC009646,CR457240,CR617379 NP_060323,EAW59191,EAW59192,BAA91224,BAD96609,AAS68520,AAH09646,CAG33521,Q53GP2,Q9NX01 Hs.134406 DLP|Dim2|FLJ20511 protein-coding 732119 TXNRD1 thioredoxin reductase 1 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein reduces thioredoxins as well as other substrates, and plays a role in selenium metabolism and protection against oxidative stress. The functional enzyme is thought to be a homodimer which uses FAD as a cofactor. Each subunit contains a selenocysteine (Sec) residue which is required for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenocysteine-containing 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. Alternative splicing results in several transcript variants encoding the same or different isoforms. 1580529 14980707,14676218,14607844,13679440,15123685,12968334,12949356,12668662,12574159,12477932,12435734,12214272,11953436,11782468,11737861,11410332,11375392,10786696,10432307,9774665,9207062,9177183,8999974,8650234,8577704,8554614,7589432,2064786,16750198,9671710,8921404,18483336,18267104,18187038,18042542,17634480,17512005,17382897,16977661,16868544,16481328,16424062,15879598,15824742,15592455,15489334,15199063,15183196 1580529 7296 NM_001093771,NM_003330,NM_182742,NM_182729,NM_182743,AC089983,AC090107,CH471054,DQ157758,AF077367,AF208018,AJ001050,AK128515,AK129977,AK226071,AL701549,AY057105,AY344074,AY344081,AY344083,AY344084,AY344086,AY344087,AY344089,AY344092,AY344093,AY344095,AY344096,AY344670,AY344673,AY344675,AY344679,BC018122,BC042974,BG772375,BT019640,CR536506,CR594686,D88687,S79851,X91247 NP_001087240,NP_003321,NP_877419,NP_877393,NP_877420,EAW97743,EAW97744,EAW97745,AAZ67916,AAC69621,AAF15900,CAA04503,BAC87474,AAL15432,AAQ62461,AAQ62462,AAQ62463,AAQ62464,AAQ62465,AAQ62466,AAQ62467,AAQ62468,AAQ62469,AAQ62470,AAQ62471,AAQ62472,AAQ62473,AAH18122,AAV38446,CAG38744,BAA13674,AAB35418,CAA62629,Q16881,Q6ZR44 Hs.708065 GDB:683567 GRIM-12|MGC9145|TR|TR1|TRXR1|TXNR protein-coding 1606823 TXNRD2 thioredoxin reductase 2 Thioredoxin reductase (TR) is a dimeric NADPH-dependent FAD containing enzyme that catalyzes the reduction of the active site disulfide of thioredoxin and other substrates. TR is a member of a family of pyridine nucleotide-disulfide oxidoreductases and is a key enzyme in the regulation of the intracellular redox environment. Three thioredoxin reductase genes have been found that encode selenocysteine containing proteins. This gene partially overlaps the COMT gene on chromosome 22. 10455115,10215850,17634480,17395017,16868544,16774913,16424062,16298692,15489334,14702039,12705894,12530083,12477932,12374691,11060283,11012661,10608886,10591208,9923614,11463857,15694360 10587 NM_006440,AC000078,AC000090,AB019694,AB019695,AB209724,AF044212,AF106697,AF166126,AF166127,AF171054,AF201385,AK094698,AK097708,BC007489,BC032029,BC038708,BC099923,BC117354,BX957216,CR590262,CR590304,CR591901,CR593863,CR594969,CR601782,CR602507,CR603526,CR608079,CR749428 NP_006431,BAA77601,BAA77602,BAD92961,AAD25167,AAD19597,AAF21431,AAF21432,AAD51324,AAG47635,AAH07489,AAH99923,AAI17355,CAF29507,CAH18266,Q17RE6,Q59ET7,Q6M1B7,Q9NNW7 Hs.443430 GDB:9958726 SELZ|TR|TR-BETA|TR3|TRXR2 protein-coding 1318088 TXNRD3 thioredoxin reductase 3 This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. It contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. 1580863 12477932,11259642,10455115,11463857 114112 XM_001130163,XM_001129642,AC024558,AC078867,AF133519,AF171055,BC030028,BC050032 XP_001130163,XP_001129642,AAD39929,AAD51325,AAH30028,AAH50032,Q86VQ6 Hs.477475 TGR|TR2|TRXR3 protein-coding 1316192 TYK2 tyrosine kinase 2 This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. 1580863,1625126,1357942,1357935 12960323,12719789,12554654,12477932,11430697,11399767,10995743,10933219,10899310,10673353,10542297,10531356,10502458,10409622,9822675,9733772,9633884,9519782,9388212,9374471,9373149,9342324,9305869,9196040,9108397,8780698,8702790,8550573,8432525,8125298,7629131,7589562,7579387,7526154,2247464,2156206,1386289,16189514,11694501,15277531,9038232,14500680,2216457,18270328,17937105,17920038,17877826,17599733,17548050,17384181,17011030,16551269,16344560,16239216,15944400,15883164,15657875,15489334 1625126,1357942,1357935 7297 NM_003331,NG_007872,AC011557,AY549314,CH471106,AK222672,AK308360,BC014243,CR995139,DA864169,X54637 NP_003322,AAS37680,EAW84099,EAW84100,BAD96392,AAH14243,CAA38449,P29597,Q53HA9,ABM83618,ABM86881 Hs.75516 GDB:125368 JTK1 protein-coding 1313979 TYMP thymidine phosphorylase This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified. 1580863,1601000 2005900,9924029,2328255,18359286,18019682,17999375,17923735,17854149,17688376,17681069,17437622,17103175,16969493,16803458,16798057,16685420,16458893,16369467,16317434,16198108,16132996,15978330,15879300,15781193,15756433,15756429,15607208,15571282,15571260,15571233,15489334,15474072,15375582,15374822,15289834,15262124,15254700,15201953,15123637,15069545,14966914,14719072,14702180,14702039,14571777,12918063,12824363,12820387,12813027,12684660,12639965,12565868,12520153,12477932,12466967,12429983,12177387,12174926,11992400,11986782,11957147,11925935,11920479,11733540,11297264,11041061,10493829,10472757,9626068,9373149,8889548,8164833,8125298,8038210,3549724,2823522,2467210,1733667,1590793,1570012,1400349 1601000 1890 NM_001113755,NM_001113756,CH471138,M58602,U62317,AK057214,AK225269,AK314716,BC018160,BC052211,BF338223,BJ995731,BM727471,BX361521,NM_001953,CR600249,CR601424,CR601687,CR602986,CR604852,CR608324,CR608523,CR610057,CR610293,CR610417,CR611811,CR613294,CR613512,CR615106,CR616233,CR619786,CR622550,CR623877,M63193,CR598122 NP_001944,NP_001107227,NP_001107228,EAW73560,EAW73561,EAW73562,EAW73563,EAW73564,AAB03344,BAG37260,AAH18160,AAH52211,AAA60043,P19971,ABM82382,ABM85560 Hs.531314,Hs.592212 GDB:127754 ECGF1|MNGIE|PDECGF|TP|hPD-ECGF protein-coding 732334 TYMS thymidylate synthetase Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. 1580863,1545055,1300048 15571263,15571262,15510613,15489334,15459215,15457444,15386371,15386366,15355920,15316940,15284183,15260847,15259039,15251465,15244514,15213713,15198953,15161716,15115918,15093541,14977639,14970324,14967037,14760062,14745930,14702180,14656021,14586640,14578129,14576935,14519641,14519634,12972956,12907731,12859954,12845668,12782596,12706868,12684695,12640689,12604405,12576452,12576451,12530000,12477932,12466474,12239455,12220503,12215845,12147691,12084462,12084461,12084460,12084459,12084458,12067974,12018454,11992400,11989786,11937185,11804689,11747337,11697906,11445856,11329255,11316879,11278511,11251164,11251009,11102983,9373149,9148948,8845352,8449516,8125298,3839505,2532645,2243092,1720706,11799066,2656695,15504738,2987839,18458991,18448328,18427977,18406541,18381794,18336674,18322994,18299612,18285546,18274813,18267032,18245544,18221821,18203297,18192902,18177869,18174236,18098291,18095031,17971770,17891500,17854149,17716232,17688376,17684476,17684410,17661145,17659576,17655928,17596206,17581305,17551301,17549369,17546637,17512053,17454638,17449906,17439323,17417073,17410198,17395259,17385677,17377791,17372271,17369151,17367411,17317154,17311259,17290389,17273745,17220568,17203168,17201138,17187508,17181924,17065089,17018589,17000685,16929515,16920564,16773218,16723031,16722845,16675565,16622263,16617381,16609021,16596248,16580699,16575011,16467096,16456808,16447238,16424979,16365025,16334126,16333305,16328315,16328059,16317430,16284371,16259621,16242255,16234002,16219137,16188144,16182121,16162288,16141798,16132996,16130010,16077970,16051637,16045580,16030402,15999119,15993511,15985285,15953655,15930032,15897576,15817609,15797993,15788669,15736425,15735113,15713801,15682292,15677700,15598787,15585623,15579479,15571283 1545055 7298 NM_001071,AP001178,CH471113,D00517,D00596,AB062290,AB077207,AB077208,AK223372,AK292620,BC002567,BC013919,BC018858,BC083512,BT006811,CR595729,CR600251,CR601110,CR601528,CR605696,CR607354,CR607878,CR608281,CR611174,CR612332,CR612901,CR616172,CR617359,CR617715,CR618525,CR625557,X02308 NP_001062,EAX01716,EAX01717,EAX01718,EAX01719,EAX01720,EAX01721,EAX01722,BAA00404,BAA00472,BAB93473,BAB83676,BAB83677,BAD97092,BAF85309,AAH02567,AAH13919,AAH83512,AAP35457,CAA26178,P04818,Q53FB7,Q53Y97,Q8WYK3,Q8WYK4,ABM83075 Hs.592338 GDB:120465 HsT422|MGC88736|TMS|TS|TSase thymidylate synthase protein-coding 1346000 TYR tyrosinase (oculocutaneous albinism IA) 1599686,1599687,1580863 11092760,7704033,10823941,18488027,18463683,18326704,18181974,17999355,17952075,17850513,17766092,17718595,17516931,17496783,17496782,17265558,17200659,17081065,16907708,16737954,16565383,16517127,16477373,16447258,16417222,16272362,16056219,15958486,15885985,15854130,15677452,15635296,15489334,15381243,15210908,15146472,14634018,14623273,12925214,12817591,12727022,12710945,12643545,12579416,12565907,12519123,12477932,12028586,11858948,11812790,11720436,11710942,11532853,11295837,11214319,11153699,10987646,10766867,10671066,10571953,10094567,9259202,9158138,8889548,8644824,8477259,8340755,8234203,8128955,8040609,7955413,7902671,5516239,3146546,2854305,2823263,2567165,2511845,2504160,2499655,2480811,2342539,2120217,2113511,1970634,1943686,1905879,1903591,1903356,1900309,1900307,1899321,1832718,1711223,1642278,1487241,666627,15716956 1599686,1599687 7299 AF237811,AP000720,AY012019,CH471185,M63239,X16073,BC027179,BU736025,J03581,M27160,M74314,NM_000372,S66645,U01873,Y00819 NP_000363,AAK00805,AAG38762,EAW59356,EAW59357,AAA61242,CAA34205,AAH27179,AAA61241,AAB37227,AAA61244,AAD13984,AAB60319,CAA68756,P14679,Q9UMA2 Hs.503555 GDB:120476 OCA1A|OCAIA|SHEP3 protein-coding 1343264 TYRL tyrosinase-like (pseudogene) 1580863 17355913,8234203,1903356 7300 NG_001529,AC118942,AC135977,M63240,M63241,S66648 AAA73001,AAD13985,Q15677,Q9UMA1 GDB:120477 pseudo 736404 TYRO3 TYRO3 protein tyrosine kinase 1580531,1580534,1580863 7511603,8108112,17005688,15964779,15733062,15489334,14702039,14623883,12768229,12477932,10627473,9175267,8939948,8641360,8621659,8262388,8108143,7857658,7851890,7537495 1580531,1580534 7301 NM_006293,AC016134,CH471125,D26146,AK022124,BC029925,BC034960,BC049368,BC051756,CR605047,D17517,D50479,U02566,U05682,X72886,AB209431 NP_006284,EAW92506,EAW92507,EAW92508,BAA05134,AAH29925,AAH49368,AAH51756,BAA04467,BAA21781,AAA17407,AAA19236,CAA51396,Q06418,Q12787,Q15879,Q59FM9,Q8N6J3,BAD92668 Hs.381282 GDB:134764 BYK|Brt|Dtk|RSE|Sky|Tif tyro3 protein tyrosine kinase 3 protein-coding 1345332 TYRO3P TYRO3P protein tyrosine kinase pseudogene 8262388,7851890 7302 NG_007058,NG_007077,AC027243,X72887 Hs.684881 GDB:134765 pseudo 1351113 TYROBP TYRO protein tyrosine kinase binding protein This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been deterimined. 1580863 9490415,17277102,17202323,17125796,17100880,16505336,16339517,16206234,15557162,15489334,15356118,14707061,12925681,12591902,12569153,12477932,12426565,12426564,12370476,12207350,12080485,11922939,11169398,10940905,10888890,10799849,10604985,10449773,10201920,10049942,9828133,9655483,9463329,8889548 7305 AK290385,AY074782,BC011175,BQ576278,BT009851,CR450342,CR542202,NM_003332,NM_198125,AD000833,AD000864,AF019563,AF019562,AJ010098 CAB52288,BAF83074,AAL74017,AAH11175,AAP88853,CAG29338,CAG46999,O43914,Q6FGA5,ABM82018,ABM85200,NP_003323,NP_937758,AAD09437,AAD09436 Hs.515369 GDB:9954457 DAP12|KARAP|PLOSL protein-coding 1351708 TYRP1 tyrosinase-related protein 1 1599692,1580863 18488027,18463683,18326704,18312627,17766092,17200659,17081065,16704458,17071589,16934245,16344560,15996218,15489334,14634018,14623273,12766061,12643545,12519123,12477932,12011806,11775055,11441007,10952393,9872531,9447965,9434945,9345097,8651291,8530077,8040609,7881448,2324688,2111010,1945866,1906272,1769662,1693779,1673236,1577487,1575733,1321344 1599692 7306 NM_000550,AF001295,AL138753,AY395736,CH471071,D83059,L33830,L38952,X60955,AL600654,BC052608,CD679533,CR407683,DA278582,X51420,X51455 NP_000541,AAC15468,CAD13328,CAH73438,AAR01256,EAW58709,EAW58710,EAW58711,EAW58712,BAA11759,AAC41924,CAA43288,AAH52608,CAG28611,CAA35785,CAA35820,P17643,Q6LES1,Q6TKR2,Q8WX62 Hs.270279 GDB:126337 CAS2|CATB|GP75|TRP|TYRP|b-PROTEIN protein-coding 1344016 TYS sclerotylosis 7303 GDB:119624 1316504 TYSND1 trypsin domain containing 1 All peroxisomal proteins are synthesized in the cytosol, and 2 distinct peroxisomal targeting signals (PTSs), the C-terminal PTS1 and N-terminal PTS2, are used for transport of these proteins into peroxisomes. Proteolytic cleavage of the N-terminal targeting sequence of PTS2 proteins accompanies import into peroxisomes, and many PTS1 proteins undergo C-terminal processing once in the peroxisomal matrix. TYSND1 processes both PTS1 and PTS2 proteins involved in beta-oxidation of fatty acids (Kurochkin et al., 2007 [PubMed 17255948]).[supplied by OMIM] 737633 17255948,14702039,12477932 737633 219743 NM_001040273,NM_173555,AL731540,CH471083,AK074968,AK097697,BC016840,BC030242,BC042629,BC047424,BC111501 NP_001035363,NP_775826,CAI13685,CAI13686,EAW54375,EAW54377,AAH16840,AAH30242,AAI11502,Q2T9J0,Q8IVQ3 Hs.533655 FLJ40378|MGC131934|MGC34695 protein-coding 1345301 TYW1 tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW1 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM] 737633,1580863 17150819,16162496,15489334,14702039,12853948,12477932 737633 55253 NM_018264,NG_007277,AC006480,AC073089,AC079920,CH471140,AK001762,AK022917,BC015591,BC042156,BC051888 NP_060734,AAS07568,AAS07520,EAX07903,EAX07904,EAX07905,BAA91891,BAB14307,AAH15591,AAH42156,AAH51888,Q9NV66 Hs.520917 FLJ10900|MGC23001|MGC60291|RSAFD1|TYW1A|YPL207W radical s-adenosyl methionine and flavodoxin domains 1 protein-coding 1603913 TYW3 tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM] 17150819,15489334,14702039,12477932 127253 AC091611,NM_138467,CH471059,AK098237,BC009514,BC032341,BC071765,BX647591,CR617954 NP_612476,EAX06408,BAC05267,AAH09514,AAH71765,CAI46106,Q6IPR3,Q96GE7 Hs.348411 C1orf171|FLJ40918 protein-coding 1602490 U1SNRNPBP U11/U12 snRNP 35K The protein encoded by this gene is a homolog of U1-snRNP binding protein. Its N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, a characteristic of a variety of splicing factors. This gene is differentially expressed in a variety of human tissues. Multiple alternatively spliced transcript variants have been found for this gene, and they differ in the 5' sequence regions. 15146077,12477932,10520751,8889548 11066 NM_180703,NM_180699,NM_022717,AC145423,CH471054,AK290127,BC009622,BC028485,BC047678,BC054034,BC093671,BC111955,BK005197,BM714052,U44798,U44799 NP_851034,NP_851030,NP_073208,EAW98412,EAW98413,EAW98414,BAF82816,AAH09622,AAH47678,AAH54034,AAH93671,AAI11956,DAA05495,AAA86654,AAA86655,Q16560 Hs.632738 GDB:9956379 HM-1|MGC138160 protein-coding 1349504 U2AF1 U2 small nuclear RNA auxiliary factor 1 This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. 1580863 11551507,15652350,1388271,12226669,9731529,18211889,17081983,16940179,16855028,16809543,16043505,15950937,15899895,15489334,15474994,15096518,14702039,12477932,12297299,11991638,11830556,11724776,11604503,11533230,11500380,11448987,11118443,11060040,10830953,9799243,9645944,9472028,9237760,9016565,8660980,8647433,8261509,7956352,1824937,15146077,16189514,9671485,9528748 7307 NM_001025203,NM_001025204,AL832781,AP001631,AP001748,AP002085,CH471079,AF370386,AJ627978,AK022152,AK023589,AK094435,AK098266,AL832665,BC001177,NM_006758,BC005915,BC013786,BC032521,CB110007,CR606196,M96982,BC001923 NP_006749,NP_001020374,NP_001020375,BAA95534,EAX09501,EAX09502,EAX09503,EAX09504,EAX09505,EAX09506,AAQ15222,CAF29556,CAH10401,AAH01177,AAH01923,AAH05915,AAA36619,Q01081,Q69YM7,Q701P4,Q71RF1,Q7Z780 Hs.365116 GDB:392758 DKFZp313J1712|FP793|RN|RNU2AF1|U2AF35|U2AFBP u2(rnu2) small nuclear rna auxiliary factor 1 protein-coding 1343980 U2AF1L4 U2 small nuclear RNA auxiliary factor 1-like 4 1580863 16147880,14702039,12477932,11739736,8889548,8630064,8586425 199746 NM_001040425,NM_144987,AD000671,AI767079,AK092844,AK094213,AY461582,AY569437,BC010865,BC021186,BC049208,BC062474,BM696851,CD175846 NP_001035515,NP_659424,BAC03988,AAT72770,AAH21186,Q8NAD5,Q8WU68,ABM83348,ABM86562 Hs.351558 FLJ35525|MGC33901|U2AF1-RS3|U2AF1L3|U2AF1L3V1|U2AF1RS3|U2af26 u2(rnu2) small nuclear rna auxiliary factor 1-like 3 protein-coding 1321740 U2AF2 U2 small nuclear RNA auxiliary factor 2 U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. 1580863 16682775,16376933,16189514,16169070,16097034,16043505,15694343,15635413,15456888,15231748,15146197,14576315,12718882,12477932,12456665,12403470,12297299,12189174,12176931,11790298,11551507,11118443,11060040,10866799,10593950,10449420,10449418,9784496,9645944,9512519,9472028,9237760,9447963,17353931,12226669,9731529,17188295,17137510,17081983,17024186,16940179,16809543,16713569,9150140,9016565,8816452,8647433,1824937,1538748,1388271,9242493,9671485,9528748 11338 NM_007279,NM_001012478,AC008735,CH471135,BC008740,BC030574,CN364862,CR609498,X64044 NP_009210,NP_001012496,EAW72402,EAW72403,EAW72404,AAH08740,AAH30574,CAA45409,P26368,Q96HC5 Hs.528007 GDB:434894 U2AF65 u2 (rnu2) small nuclear rna auxiliary factor 2 protein-coding 1352439 U3 RNA, U3 small nucleolar 15574333,15574332,8440138,6186397,2719960,10606270 6067 XR_016096,XR_016095,NR_002906,K00777 GDB:134809 RNU3 snorna 1352491 UACA uveal autoantigen with coiled-coil domains and ankyrin repeats 1580863 11162650,15489334,15358194,15302935,15146197,14702039,12477932,10997877,8889548,14743216,12421765 55075 NM_018003,NM_001008224,AC009269,AC087699,CH471082,AB046781,AF322916,AK000990,AK055435,AK057207,AL834243,AL834464,BC016881,BC113407,BC113409,BM693348,BU736944,CN303461 NP_060473,NP_001008225,EAW77853,EAW77854,EAW77855,BAB13387,AAG49577,BAA91457,BAB70922,CAD38920,CAD39123,AAH16881,AAI13408,AAI13410,Q05DB3,Q8NDD7,Q96NH6,Q9BZF9 Hs.108049 GDB:11502179 FLJ10128|KIAA1561|MGC141967|MGC141969|NUCLING protein-coding 1319461 UAP1 UDP-N-acteylglucosamine pyrophosphorylase 1 1625539,1580863 9603950,16710414,15489334,12477932,11707391,9765219,9621304,8025165,16189514 1625539 6675 NM_003115,AL596325,CH471067,AB011004,AW136085,BC009377,CB125476,S73498 NP_003106,EAW90710,EAW90711,EAW90712,BAA31202,AAH09377,AAB31210,Q16222,Q5VTB2 Hs.492859 GDB:7009844 AGX1|AgX|SPAG2 protein-coding 1321645 UAP1L1 UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 14702039,12477932 91373 NM_207309,AL807752,CH471090,AK022632,AK074143,AK095393,AK128529,AL832421,BC010529,BC012838,BC041644,BC106035,BX333979,CR979381 NP_997192,CAI12779,CAI12780,CAM14424,EAW88340,EAW88341,EAW88342,EAW88343,BAB84969,BAC87482,CAH10651,AAI06036,Q3KQV9,Q8TEI1 Hs.142076 RP11-229P13.18 protein-coding 1604847 UBA1 ubiquitin-like modifier activating enzyme 1 The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. 12477932,11846513,11447495,9467000,8663123,8573590,7724583,7673335,3390177,2390975,2323223,1986373,1871145,1845793,1606621,1544321,12887909,15184379,14638690,12485996,12438698,11927591,11278247,12431996,16227972,17956732,18179898,17597759,17060614,16964243,16713569,16595681,15592455,15489334,15302935,15247261,15202508,14733918,14702039,12883554 7317 NM_153280,NM_003334,AJ003111,AL513366,CH471164,AF258566,AK097343,AK131341,BC009900,BC013041,BC020261,BG703038,BI547207,CR594399,CR596473,CR600825,CR621823,M58028,X52897,X56976 NP_695012,NP_003325,CAA05866,CAI41703,CAI41704,CAI41705,CAI41706,CAI41707,CAI41708,CAI41710,EAW59290,EAW59291,EAW59292,EAW59293,AAG23769,AAH13041,AAA61246,CAA40296,CAA37078,P22314,Q5JRR6,Q5JRR8,Q5JRR9,Q5JRS0,Q712V1,Q8WY81,ABW03826,ABW03513 Hs.533273 GDB:118954 A1S9|A1S9T|A1ST|GXP1|MGC4781|UBA1A|UBE1|UBE1X protein-coding 737348 UBA3 ubiquitin-like modifier activating enzyme 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 634396 10722740,12740388,9694792,11256614,16620772,16503656,16400609,16381901,15694336,15489336,15489334,15361859,14702039,14690597,12646924,12477932,11230166,11076863,10409428,10207026,17353931 634396 9039 NM_198195,NM_003968,AC092060,AC109587,CH471055,AB012190,AF046024,AK002159,AK289392,AL117566,BC022853,BG940987,CD700642,CR533537,CR598743,CR606720 NP_937838,NP_003959,EAW65470,BAA33144,AAC27648,BAF82081,CAB55996,AAH22853,CAG38568,Q0JU45,Q8TBC4,CAL37771,CAL37966,ABM84093,ABM87464 Hs.154320 GDB:9954799 DKFZp566J164|MGC22384|UBE1C|hUBA3 protein-coding 1323296 UBA5 ubiquitin-like modifier activating enzyme 5 This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A pseudogene located on chromosome 1 has also been identified. 11256614,16381901,16344560,16328888,16189514,15489336,15489334,15071506,14702039,12477932,11230166,11076863,8889548 79876 NM_198329,NM_024818,AC020632,CH471052,AB154406,AK026904,AK027563,AK056238,AK129616,AL136757,AL832669,AY253672,BC009737,BC048015,BM541647,BQ581736,BU739244,CR615958,DB082596,DB457433 NP_938143,NP_079094,EAW79189,EAW79190,EAW79191,EAW79192,BAD15375,BAB15587,BAB55199,CAB66691,AAP79600,AAH09737,Q0JU10,Q9GZZ9,CAL37403,CAL38002 Hs.170737 FLJ23251|FLJ23251UBA5|THIFP1|UBE1DC1 protein-coding 68482 UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. 2581967,15189156,14567916,16396496,16199891,15936278,15761153,15231748,15057824,14528304,12960054,12857745,12477932,12367500,11916981,11875025,11597332,11163799,9582194,8889548,8722009,8702753,8188300,8107144,8012384,3037496,2537304,1850507,1330885,14743216,14564014 7311 NM_001033930,NM_003333,AC005253,CH471106,DQ479851,X56997,Z57470,AF348700,AF545864,AK057790,BC101830,BC101832,BQ428515,BQ428688,BU677484,CB124676,CR605557,CR624915,X56998,X56999,Y00361 NP_001029102,NP_003324,AAC25582,EAW84715,EAW84716,EAW84717,EAW84718,ABE96835,CAA40312,AAK31162,AAP97731,AAI01831,AAI01833,CAA40313,CAA40314,CAA68439,P62987,Q3MIH3,Q7Z4P3 Hs.5308 GDB:133775 CEP52|HUBCEP52|MGC126879|MGC126881|MGC57125|RPL40 protein-coding 1349898 UBA52P1 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 1 1330885 7312 NG_001207,AC005165,CH236948,M62405 GDB:133776 pseudo 1350773 UBA52P2 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 2 1330885 7313 NG_001208,AL161747,M62406 GDB:133777 pseudo 1347449 UBA52P3 ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 3 122837 NG_002524,AL121579 pseudo 1605374 UBA6 ubiquitin-like modifier activating enzyme 6 Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM] 11256614,17889673,17597759,17580310,16381901,15815621,15489336,15489334,15231748,15202508,14702039,12477932,11230166,11076863,16189514 55236 AC079880,NM_018227,AC096720,CH471057,AB014773,AK001670,AK027020,AK094164,AK094969,AL596839,AL832015,AL832458,AW451445,AY359880,BC031637,BC126484,BC126486,BM973988,EF623993 NP_060697,AAY40999,EAX05549,EAX05550,EAX05551,EAX05552,EAX05553,BAB19785,BAA91824,BAC04463,CAD89908,CAD89959,AAQ63403,AAH31637,AAI26485,AAI26487,ABR25253,A0AVT1,CAL37551 Hs.212774 FLJ10808|FLJ23367|MOP-4|UBE1L2 protein-coding 1318027 UBA7 ubiquitin-like modifier activating enzyme 7 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. 1580863 16428300,16254333,14976209,12665801,12477932,11891284,11157743,10709110,8327486,7734949,1311632,16189514 7318 NM_003335,AC139451,AF294032,CH471055,BC006378,BM152341,BT007026,CA425139,L13852 NP_003326,AAG49557,EAW65023,EAW65024,AAH06378,AAP35672,AAA75388,P41226,Q9BRB2,ABM84233,ABM84633 Hs.16695 GDB:249268 D8|MGC12713|UBA1B|UBE1L|UBE2 protein-coding 1346576 UBAC1 UBA domain containing 1 17353931,16310047,16189514,15746103,15531880,15489334,15231748,15164053,12477932,10857748,9110174,8619474 10422 AL355574,CH471090,AF038200,AF068195,AF176796,BC004967,BC011822,BX647463,CR590831,CR591205,NM_016172,CR591593,CR592166,CR595884,CR599174,CR601673,CR603032,CR604883,CR609611,CR611514,CR611758,CR617611,CR619664,CR620351,CR626744 NP_057256,CAI14118,EAW88187,EAW88188,EAW88189,EAW88190,AAC21559,AAD51084,AAH04967,AAH11822,Q9BSL1,ABM83493,ABM86708 Hs.9194 GBDR1|RP11-432J22.3|UBADC1 ubiquitin associated domain containing 1 protein-coding 1323278 UBAC2 UBA domain containing 2 16303743,15489334,15057823,14702039,12477932,11991713 337867 NM_177967,AL136961,CQ834238,AF339812,AK054563,AK055110,AK075419,AK075516,AK124404,AK129861,AK290342,BC053346,BC063559,BC072674,BC121138,AL159981,AL160155,CH471085,BC121139,CR611931 NP_808882,AAI21139,EAX09012,EAX09013,EAX09014,EAX09015,EAX09016,CAH05334,BAB70757,BAC11609,BAC11665,BAF83031,AAH63559,AAH72674,CAI16940,CAI16941,CAI16943,CAI14300,CAI14301,CAI14303,EAX09010,EAX09011,AAI21140,Q8NBM4 Hs.508545 FLJ26351|FLJ30001|FLJ30548|FLJ42413|MGC90487|PHGDHL1 protein-coding 1313064 UBAP1 ubiquitin associated protein 1 This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. 11256614,16381901,16226037,15489336,15489334,15164053,14702039,12477932,12451983,12050802,11599797,11230166,11076863,9373149,8125298 51271 NM_016525,AL353662,CH471071,CQ782977,CQ783698,AF222043,AK074426,AK074724,AK074745,AK074812,AK074969,AK074995,AK223235,AL136733,BC020950,BC098141,BC098316,BC099726,BC100668,CR533551,CR620852,CR621006,CR624683 NP_057609,CAI15914,CAI15915,EAW58467,EAW58468,EAW58469,EAW58470,CAF86203,CAF86817,AAF37827,BAC11162,BAC11176,BAC11224,BAC11323,BAC11342,BAD96955,CAB66667,AAH20950,AAH98141,AAH98316,AAH99726,AAI00669,CAG38582,Q0JRX4,Q53FP7,Q9NZ09,CAL38740,ABM82616,ABM85799 Hs.268963 GDB:10796644 MGC119669|MGC8710|NAG20|UAP|UBAP protein-coding 1323319 UBAP2 ubiquitin associated protein 2 This gene is a novel gene isolated based on its expression in the human adrenal gland. The full-length protein encoded by this gene contains a UBA-domain (ubiquitin associated domain), which is a motif found in several proteins having connections to ubiquitin and the ubiquitination pathway. In addition, the protein contains a region similar to a domain found in members of the atrophin-1 family. The function of this protein has not been determined. Additional alternate splice variants may exist, but their full length nature has not been determined. 15951569,15592455,15489334,15164053,15144186,14702039,12975309,12477932,10819331,10737800,8871400 55833 NM_018449,AL139113,AL354989,AB040924,AB209911,AF157327,AK025357,AK025801,AK026088,AK057564,AK074884,AK125935,AK128424,AY358682,BC007890,BC037416,BC041077,BC111409,BC111762,BE410205,BF332025,BG723831,CR933678 NP_060919,CAI39657,CAI39659,CAI15298,BAA96015,BAD93148,AAF67493,BAC11266,AAQ89045,AAH07890,AAI11763,CAI45972,Q5H9Q2,Q5JV03,Q5T6F2,Q6UWR4,Q9P0H6 Hs.493739 GDB:11510289 FLJ22435|FLJ43947|FLJ46567|KIAA1491|bA176F3.5 protein-coding 1354268 UBAP2L ubiquitin associated protein 2-like 1580863 14667819,17081983,16964243,16710414,16094384,15592455,15489334,15302935,15144186,12477932,11230159,8590280 9898 NM_014847,NG_007369,NM_001127320,AL590431,CH471121,AJ243668,AJ243669,AJ243670,AK124294,BC003170,CR598011,CR617355,D63478,DC404293 NP_055662,NP_001120792,CAH71278,CAH71279,CAH71280,CAH71281,CAH71282,CAH71283,CAH71284,CAH71285,CAH71286,EAW53213,EAW53214,EAW53215,EAW53216,EAW53217,EAW53218,EAW53219,EAW53220,CAB65099,CAB65100,CAB65101,AAH03170,BAA09765,Q14157,Q5VU77,Q5VU78,Q5VU79,Q5VU80,Q5VU81,Q5VU85,Q9UGL4 Hs.490551 FLJ42300|KIAA0144|NICE-4 protein-coding 1321132 UBASH3A ubiquitin associated and SH3 domain containing, A 1580863 16780588,18006034,17709377,17382318,16429130,15489334,15159412,15107835,11281453,12477932 53347 BC028138,BC069357,BC069483,BC069511,BC069577,NM_018961,NM_001001895,AP001624,CH471079,CQ834170,AF520809,AF521702,AJ277750 Q8N6V2,AAH28138,AAH69357,AAH69483,AAH69511,P57075,NP_061834,NP_001001895,EAX09560,EAX09561,EAX09562,EAX09563,CAH05300,AAP80731,AAP80738,CAB91543 Hs.473912 GDB:10796457 CLIP4|STS-2|TULA protein-coding 1605914 UBASH3B ubiquitin associated and SH3 domain containing, B This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. 16429130,16344560,16303743,15489334,15388581,15159412,14702039,12665801,12477932,12370296,11853319,9373149,8889548,8125298 84959 NM_032873,AP002762,CH471065,CQ783295,AB075839,AF425252,AK075203,AK092011,AK222843,AK222846,AL833092,BC007541,CA313832,CR741636,DA197468 NP_116262,EAW67531,CAF86506,BAB85545,AAL16953,BAC11468,BAD96563,BAD96566,AAH07541,Q8TF42 Hs.444075 KIAA1959|MGC15437|STS-1|p70 protein-coding 1344008 UBB ubiquitin B This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin is required for ATP-dependent, nonlysosomal intracellular protein degradation of abnormal proteins and normal proteins with a rapid turnover. Ubiquitin is covalently bound to proteins to be degraded, and presumably labels these proteins for degradation. Ubiquitin also binds to histone H2A in actively transcribed regions but does not cause histone H2A degradation, suggesting that ubiquitin is also involved in regulation of gene expression. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. Aberrant form of this protein has been noticed in patients with Alzheimer's and Down syndrome. 11931757,12070128,11742988,12218189,12593796,12820959,15469984,15781449,16407834,11231585,17931355,17405812,17395554,17237936,17203973,17081983,16701206,16651270,16581786,16543144,16510124,16499958,16443603,16429130,16407252,16288044,16267042,16189514,16137618,16027724,16023596,15761153,15694335,15489334,15469821,15466860,15452314,15231748,15149598,15125833,15105460,15057824,14745543,14722266,14695475,14612456,12960054,12893422,12883554,14528304,11597332,11285280,12367500,15029244,12791267,9660940,10995389,3029682,2988935,2820408,2581967,2537950,2154095,1850507,1657614,1370760,124018,17067581,16808324,15994808,16775314,12857950,12610113,12507430,12477932,12239347,12234927,12055595,12016299,11991975,11790298,11320250,11173499,11146632,11112487,11087860,11087859,11046148,10871850,10827953,9644242,9525617,9504932,9422699,8917096,8702753,8275493,8166633,8107144,8087846,6275256,6261785,6092831,3041007,12871580 7314 NM_018955,AB089617,AC093484,CH471222,X04803,AK129498,BC000379,BC009301,BC015127,BC026301,BC031027,BC038999,BC046123,BT020104,CR589965,CR590697,CR607481,CR620731 NP_061828,BAC56955,EAX04501,EAX04502,EAX04503,EAX04504,EAX04505,EAX04506,CAA28495,AAH00379,AAH09301,AAH15127,AAH26301,AAH31027,AAH38999,AAH46123,AAV38907,P62988,Q5U5U6 Hs.356190 GDB:120478 FLJ25987|MGC8385 protein-coding 1347287 UBBP1 ubiquitin B pseudogene 1 3029682,2154095 7315 NG_002284,AC112255,X04801 GDB:120479 pseudo 1352261 UBBP2 ubiquitin B pseudogene 2 3029682 23668 NG_002287,AL445428,X04802 GDB:10794808 pseudo 1349521 UBBP3 ubiquitin B pseudogene 3 3035490,3029682,2154095 23667 NG_002286,AC105402,Y00332 GDB:10794809 pseudo 1346838 UBBP4 ubiquitin B pseudogene 4 2834222,2154095 23666 NG_002285,AC138761,X07499 GDB:10794810 pseudo 1346853 UBC ubiquitin C 17550899,16892003,15893736,14745543,14702039,12923571,12883554,12813030,12610113,12477932,11991975,11112487,11087860,11087859,9644242,9525617,9504932,9110174,8917096,8619474,2988935,2820408,1660345,2564731,1315303,17067581,16808324,15994808,16775314,16189514,14755250,12682062,12463424 7316 AY819759,BC000449,BC008955,BC014880,BC039193,BC080583,BC093445,BE873233,BU195276,CR611585,CR615117,CR621420,M17597,M26880,NM_021009,AB003730,AB089613,AC126309,CH471054,D63791,AB009010,AB209782,AF052164,AK026846,AK056939,AK097415,AK098827,AK129749,AL117514,AY732488 AAV68344,AAH08955,AAH14880,AAH39193,AAH80583,AAA36787,AAA36789,Q566M9,Q59EM9,Q5PY61,Q5UGI3,Q66K58,Q7L684,Q8WYN8,AAV33127,Q96C32,Q96H31,Q96MH4,Q9UFQ0,NP_066289,BAA23486,BAC56951,EAW98463,EAW98464,EAW98465,EAW98466,BAA09860,BAA23632,BAD93019,BAB71316,CAB55973 Hs.520348 GDB:128730 HMG20 protein-coding 69468 UBD ubiquitin D 724702,1580863 15831455,15761153,15489334,14757770,14574404,12883554,12730673,12610113,12477932,11991975,11112487,11087860,11087859,10200259,9525617,8662070,17067581,16808324,15994808,16775314,16189514,9368598,17971048,17889673,16707496,16495380,16495226 724702 10537 NM_006398,AL645936,AL662826,BX000688,CH471081,CR759766,CR942274,AF123050,BC012472,Y12653 NP_006389,CAI17384,CAI18599,EAX03201,CAQ06603,CAQ10316,AAD52982,AAH12472,CAA73200,O15205,Q5STL2,ABM85550 Hs.44532 GDB:9957595 FAT10|GABBR1|UBD-3 protein-coding 1350880 UBDP1 ubiquitin D pseudogene 1 387062 1346006 UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Multiple alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. 1580863 12477932,1559696,16909393,15489334,12776193,12640129,12525704,11953320,11929833,11885984,10908344,10884424,9373149,8125298,7821789,1717990,16189514 7319 NM_003336,NM_181762,NM_181777,AC004913,AF455746,CH471161,DQ068065,AK223045,AK223064,AL701289,BC010175,BC042021,BI093289,CR592668,CR595604,CR598158,CR598456,CR600075,CR603049,CR608682,CR614387,CR614696,CR616784,CR618296,CR621348,CR622728,D28459,M74524 NP_003327,NP_861427,NP_861442,AAL58874,EAW89861,EAW89862,EAW89863,AAY46159,BAD96765,BAD96784,AAH10175,BAA05825,AAA35981,P49459,Q53G67,Q53G86,Q8WXB3,ABM84312,ABM87705 Hs.379466 GDB:131647 HHR6A|RAD6A|UBC2 protein-coding 1349526 UBE2B ubiquitin-conjugating enzyme E2B (RAD6 homolog) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. 1600438 1559696,18339854,17050667,16169070,15489334,15359278,14981545,14585983,12477932,10908344,10884424,8575614,2158443,1883845,1717990,11929833,11885984 1600438 7320 NM_003337,AC109454,CH471062,DQ090910,BC001694,BC005979,BC008404,BC008470,BT007071,CR407634,CR604876,CR616089,CR625304,M74525,T88933,X53251 NP_003328,EAW62257,EAW62258,AAY68224,AAH05979,AAH08404,AAH08470,AAP35734,CAG28562,AAA35982,CAA37339,P63146,ABM84039,ABM87386 Hs.615284,Hs.695927 GDB:128627 E2-17kDa|HHR6B|HR6B|RAD6B|UBC2 protein-coding 1313378 UBE2C ubiquitin-conjugating enzyme E2C The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for the destruction of mitotic cyclins and for cell cycle progression. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 1580863 9122200,11285280,15504738,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,17354233,17217624,16772118,16106252,15489334,15208666,12874022,12477932,11927573,11780052,11739784,11549316,15107846,16189514 11065 BC007656,BC016292,BC028161,BC032677,BC050736,BF974975,BM556795,BM747513,BT007300,BT020165,BT020166,BU844974,CB143441,CR456988,CR593952,CR610834,U73379,NM_181799,NM_007019,NM_181800,NM_181803,NM_181801,AL050348,CH471077,NM_181802 EAW75807,EAW75808,EAW75809,AAH07656,AAH16292,AAH50736,AAP35964,AAV38967,AAV38968,CAG33269,AAB53362,O00762,Q5TZN3,Q9BQP0,Q9BQP1,AAP36183,ABM83342,ABM86556,NP_861518,NP_861515,NP_008950,NP_861516,NP_861519,NP_861517,CAB66118,CAC36108,CAC36109,CAO03377,CAO03378,EAW75804,EAW75805,EAW75806 Hs.93002 GDB:135908 UBCH10|dJ447F3.2 protein-coding 1315581 UBE2CBP ubiquitin-conjugating enzyme E2C binding protein 15749827,12477932 90025 NM_198920,AL034377,AL139333,AL357121,AL450483,CH471051,AB126062,AF026526,AL137544,BC036049,BC053645,BC057845,BC071763,BC101512,BC101538,CR590287,CR598717,CR604323 NP_944602,CAI15281,CAI15282,CAI15283,CAI13739,CAI13740,CAI13741,CAI14200,EAW48677,EAW48678,EAW48679,EAW48680,EAW48681,BAD01604,CAB70802,AAH36049,AAH53645,AAH57845,AAH71763,AAI01513,AAI01539,Q4G0J6,Q4G0X5,Q5T4W1,Q5T4W2,Q5T4W3,Q7Z6J8 Hs.148609 C6orf157|DKFZp434A1520|H10BH|MGC126561|MGC126587|YJR141W protein-coding 1349785 UBE2CP1 ubiquitin-conjugating enzyme E2C pseudogene 1 326105 NG_002528,AL121852 pseudo 1317341 UBE2D1 ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. 1580863 15621726,11285280,14593737,15029244,16275645,10793135,11535616,11742988,12070128,10548110,11340163,17373700,16189514,15489334,15139022,14562029,12883554,12670957,12480712,12477932,12393902,11557750,11389839,11274149,10973499,10072594,10066826,9918797,9362508,9182527,8889548,8530467,8090726,8576257,14636569,12887909,15184379,14638690,12890688,12732733,12485996,12438698,11927591,11278247,15494311 7321 NM_003338,AC016396,AC023170,AJ293565,CH471083,AF020761,AF257220,AJ272367,AK291901,BC005980,BC015997,BI598342,BM468116,BM970335,BT007041,CR594114,CR603407,CR617065,CR619802,CR620939,X78140 NP_003329,CAC82097,EAW54167,EAW54168,EAW54169,EAW54170,AAM81086,CAC82177,BAF84590,AAH05980,AAH15997,AAP35690,CAA55019,P51668,ABM84037,ABM87384 Hs.129683 GDB:5952567 E2(17)KB1|SFT|UBC4/5|UBCH5|UBCH5A protein-coding 69475 UBE2D2 ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Two alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. 1302873,69394 12878161,14667819,8090726,7724550,16112646,15489334,15280377,15231748,15001359,14702039,14612456,12670957,12477932,12036302,11724934,10918611,10848595,10514377,10329681,9990509,9182527,8530467,12431996,14562029 1302873,69394 7322 NM_181838,NM_003339,AC010378,CH471062,L40146,AF317220,AK001311,AK001428,AY651263,BC019052,BC033349,BC048426,CR591688,CR592107,CR594111,CR596483,CR606151,CR607642,CR611730,CR618308,CR622545,CR623635,U39317 NP_862821,NP_003330,EAW62095,EAW62096,EAW62097,AAC41750,AAK93958,AAX35690,AAH33349,AAA91460,P62837,Q3MN78,Q96RP6 Hs.108332 GDB:5952568 E2(17)KB2|PUBC1|UBC4|UBC4/5|UBCH5B ubiquitin-conjugating enzyme e2d 2 protein-coding 1344235 UBE2D3 ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. Multiple spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. 8090726,15621726,8530467,17420285,16344560,16189514,15489334,15280377,14702039,12867425,12732733,12670957,12477932,12215439,11927591,11485561,10835356,10329681,9990509,9488723,14562029,14667819 7323 NM_181893,NM_181889,NM_181886,NM_003340,NM_181888,NM_181887,NM_181891,NM_181892,AF213884,CH471057,NM_181890,AK095822,AK127304,AL050186,AL833414,AU131013,AW675390,BC003395,BC037894,BC066917,BG613555,BM541512,BM750658,BM788287,BQ428985,BU567649,BU570661,CR456916,CR596812,CR608063,CR610934,CR619029,CR620503,CR625720,U39318 NP_871619,NP_871622,NP_871618,NP_871615,NP_003331,NP_871617,NP_871616,NP_871620,NP_871621,AAF35234,EAX06139,EAX06140,EAX06141,EAX06142,EAX06138,EAX06143,EAX06144,EAX06145,EAX06146,EAX06147,BAC04632,AAH03395,AAH37894,AAH66917,CAG33197,AAA91461,P61077,Q8N924 Hs.518773 GDB:5952569 E2(17)KB3|MGC43926|MGC5416|UBC4/5|UBCH5C protein-coding 1626139 UBE2D3P ubiquitin-conjugating enzyme E2D 3 pseudogene 100037280 NG_006450,AL121755 RP4-680N4 pseudo 1347506 UBE2D4 ubiquitin-conjugating enzyme E2D 4 (putative) 16189514,15489334,15231748,14702039,12690205,12477932 51619 NM_015983,AC004985,CH236951,CH471073,AF125044,AF125045,AK001446,BC004104,CR608137 NP_057067,EAL24010,EAW94178,EAW94179,EAW94180,EAW94181,EAW94182,EAW94183,EAW94184,AAD31180,AAD31181,BAA91697,AAH04104,Q9UQL0,Q9Y2X8 Hs.19196 HBUCE1 protein-coding 1603496 UBE2DNL ubiquitin-conjugating enzyme E2D N-terminal like 15489334,12477932 340561 Q8IWF7 XM_926284,XM_937425,BC040290 XP_931377,XP_942518,AAH40290,Q8IWF7 Hs.460809 MGC42638 protein-coding 1354241 UBE2E1 ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 18032921,16428300,14667819,8576257,11285280,14593737,15029244,10793135,11535616,11742988,12070128,10548110,11340163,15489334,12477932,11395416,11322894,11274149,10991948,10866800,9990509,8393731 7324 NM_182666,AC020626,AC124914,CH471055,BC009139,BF698653,BI223271,CR605474,CR609756,CR622042,CR624061,X92963,NM_003341 NP_003332,NP_872607,EAW64329,EAW64330,EAW64331,EAW64332,EAW64333,AAH09139,CAA63539,P51965 Hs.164853 GDB:5952566 UBCH6 protein-coding 1346022 UBE2E2 ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast) 737633,1580863 10521492,9371400,7757816,16428300,15545318,15485925,12477932,11786535,11322894,11274149,11237715 737633 7325 NM_152653,AC092038,AC104741,AC116992,AC121251,AC135966,CH471055,AK057886,BC022332,CR592620,CR615770,CR617055 NP_689866,EAW64321,EAW64322,EAW64323,EAW64324,EAW64325,BAB71605,AAH22332,Q96LR5 Hs.475688 GDB:9773416 FLJ25157|UBCH8 protein-coding 1318925 UBE2E3 ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 16189514,14667819,16713569,15815621,15761153,15545318,15489334,15302935,12477932,11809816,11322894,11274149,11042152,10582246,10343118,10187858,9734360,9409737 10477 AC104076,CH471058,AB017644,AF085362,BC003554,BC003687,BC092407,BM762761,BQ932163,BT019345,CR593046,CR603132,CR607535,CR616134,CR621773,CR622410,CR624412,NM_182678,NM_006357 AAY14882,EAX10989,EAX10990,BAA76544,AAD40197,AAH03554,AAH92407,AAV38152,Q969T4,NP_872619,NP_006348 Hs.470804 GDB:9957108 UBCH9|UbcM2 protein-coding 1605819 UBE2E4P ubiquitin-conjugating enzyme E2E 4 pseudogene 15815621,15545318,15489334,15302935,10343118 286480 NG_004721,AC002524,AF136176 AAP97266 Hs.567831 UbcM2 pseudo 1350782 UBE2F ubiquitin-conjugating enzyme E2F (putative) 15815621,15489334,12477932 140739 NM_080678,AC016776,CH471063,AF310723,AK290063,BC010549,CR615230,CR620417 NP_542409,AAY24220,EAW71128,EAW71129,EAW71130,EAW71131,EAW71132,EAW71133,EAW71134,AAL26792,BAF82752,AAH10549,Q969M7 Hs.471785 GDB:10794625 MGC18120|NCE2 ubiquitin-conjugating enzyme e2f (ubc6 homolog, c. elegans) protein-coding 1353011 UBE2G1 ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. 8893823,15489334,12933904,12665801,12477932,11439185,11278356,11032556,10558980,10521492,9693041,8393731,16189514 7326 NM_003342,AC087742,AC116910,CH471108,CQ840929,AI493944,BC002775,BC026288,BG703127,BI601205,BT007416,BU161770,CD250951,CR622319,CR623407,D78514 NP_003333,EAW90441,EAW90442,EAW90443,EAW90444,EAW90445,EAW90446,CAH05704,AAH02775,AAH26288,AAP36084,BAA11410,P62253,AAP36947 Hs.462035 GDB:1230511 E217K|UBC7|UBE2G ubiquitin-conjugating enzyme e2g 1 (ubc7 homolog, c. elegans) protein-coding 1312541 UBE2G2 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 17681147,9693041,16780588,17353931,16582478,16407162,15489334,14702039,12869571,12477932,11724934,11278356,11032556,10991948,10830953,10558980,10521492,9925943,8393731,16189514 7327 NM_003343,NM_182688,AL163300,AL773604,CH471079,AF032456,AK075143,AK122700,AK290629,AL834129,BC001738,BC008351,BC011569,BC017241,BE292782,BG702453,BT006914,CR593095,CR622633,BC054341 NP_003334,NP_872630,CAB90551,EAX09395,EAX09396,EAX09397,EAX09398,EAX09399,EAX09400,AAC32312,BAF83318,CAD38846,AAH01738,AAH08351,AAH11569,AAP35560,P60604,Q8NDD5 Hs.529420,Hs.701398 GDB:9597646 UBC7 protein-coding 1320678 UBE2H ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Two alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. 15489334,15388255,14722266,14702039,14639049,12853948,12690205,12477932,10860668,8543049,7761435,15107846,16189514,8132613 7328 NM_182697,NM_003344,AC073320,AC084865,CH236950,CH471070,AK024519,AK026094,AK091088,AL832212,AY302138,BC006277,BT006756,CB995681,Z29328,Z29330,Z29331 NP_874356,NP_003335,AAS07548,EAL24098,EAL24099,EAW83733,EAW83734,EAW83735,EAW83736,EAW83737,AAP57630,AAH06277,AAP35402,CAA82525,CAA82527,CAA82528,P62256,Q75MF5,Q7Z6F4 Hs.643548 GDB:340949 E2-20K|UBC8|UBCH|UBCH2 protein-coding 734464 UBE2I ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. 1302873,1642482,730030 11853669,11842083,11812797,11792325,11779867,11451954,11447110,11367701,11278694,11278381,11157797,11112409,11085938,11025202,10806190,10759568,10737800,10694430,10655495,10535925,10497239,10383460,10377438,9920803,9855622,9563508,9488727,9334332,9333025,9261152,9257699,9197546,9067428,8921390,8824223,8798754,8798622,8733011,8668529,8668125,15613319,17353931,10961991,14531806,15806172,15592428,9223484,15546615,9514881,10788439,11735126,9885291,12072434,14516784,8565643,8610150,18211895,17956732,17698038,17671234,17466333,17391059,17297476,17105732,17037517,17005699,16998888,16732283,16730941,16713569,16631117,16620772,16566921,16494873,16469311,16455490,16455055,16248985,16189514,16169070,16154161,15931224,15881673,15876874,15820677,15735760,15723523,15666801,15635413,15616553,15611122,15608651,15588942,15489334,15378033,15327968,15246872,15231748,15087395,14765993,14752048,14702039,14609633,14578449,14556380,14517060,12924945,12813045,12761287,12679040,12641448,12633878,12621041,12620973,12615929,12477932,12419227,12356736,12200128,12192048,12177000,12150977,12110916,12082530,12023963,12021447,11960997,11927605,11877416 1302873,1642482,730030 7329 NM_194261,NM_194260,NM_194259,NM_003345,AC120498,AE006466,AL031714,CH471112,AB208988,AJ002385,AK024172,AK093616,AK291118,AL833737,BC000427,BC000744,BC004429,BC004437,BC014997,BC051289,BE262845,BI523501,BQ230918,BQ358820,BT006932,BT007010,BU146357,BU543455,CD249028,CR590087,CR603776,CR604763,D45050,U29092,U31882,U31933,U38785,U45328,U66818,U66867,X96427 NP_919237,NP_919236,NP_919235,NP_003336,AAK61274,CAB45853,EAW85673,EAW85674,EAW85675,EAW85676,EAW85677,EAW85678,EAW85679,BAD92225,CAA05359,BAF83807,AAH00427,AAH04429,AAH51289,AAP35578,AAP35656,BAA08091,AAC51361,AAC50603,AAB02181,AAB09410,AAA86662,AAC50715,AAC50716,CAA65287,P63279,Q7KZS0,ABM82299,ABM85478 Hs.302903 GDB:595474 C358B7.1|P18|UBC9 ubiquitin-conjugating enzyme e2i protein-coding 1312877 UBE2J1 ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. 1580863 16720581,15861135,15489334,14574404,12477932,12082160,11042152,10810093,10708578,9373149,8125298 51465 AL121833,AL138717,AL139804,CH471051,AB075487,AF151039,AF151834,AF161502,AJ245898,AJ420479,AJ420522,AJ420578,NM_016021,AJ420600,AK223464,AK290574,BC013973,BF058850,CR593056,CR608832,CR618158,U93243 NP_057105,CAH70228,CAI19635,EAW48555,EAW48556,AAF36125,AAD34071,AAF29117,CAB83212,BAD97184,BAF83263,AAH13973,AAF21505,Q53F25,Q9Y385,ABM86070,ABW03768 Hs.163776 CGI-76|HSPC153|HSPC205|HSU93243|MGC12555|NCUBE1|Ubc6p protein-coding 1343973 UBE2J2 ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 1580863 16341674,16303743,14702039,12477932,11278356,8393731 118424 BE515187,BE382927,BG112933,BG499172,BG717336,BM544827,BM765278,BM794599,BM926567,BQ881730,CR590185,CR592102,CR598255,CR601173,CR605285,CR607169,CR610022,CR612438,NM_194458,NM_058167,NM_194315,AL162741,CH471183,AF296658,AK056065,AK075017,AK098803,AK291935,AL555293,AW411508,BC027728,BC052579,BC094777,BC104890,BC113430,NM_194457 AAI13431,Q5T7K9,Q5T7L0,Q5T7L1,Q8N2K1,Q9P1E8,NP_919439,NP_919440,NP_477515,NP_919296,CAI23257,CAI23258,CAI23259,CAM12828,EAW56255,EAW56256,EAW56257,EAW56258,EAW56259,EAW56260,EAW56261,EAW56262,EAW56263,EAW56264,EAW56265,EAW56266,EAW56267,AAK52609,BAB71086,BAC11355,BAF84624,AAH94777,AAI04891 Hs.191987 NCUBE2|PRO2121 protein-coding 1323181 UBE2K ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast) The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. 17353931,8702625,17873885,17092742,16868077,16344560,15489334,15383276,14702039,12665801,12477932,11513855,10675012,10634809,10222105,9857030,9535861,9700202 3093 NM_005339,NM_001111112,NM_001111113,AC105287,AC108471,CH471069,AB022435,AB022436,AK093533,AK291454,AL117568,BC022804,BC050600,BU622273,BX641089,CR605719,CR606205,CR621318,CX786829,DA526283,U58522 NP_005330,NP_001104582,NP_001104583,EAW92946,EAW92947,EAW92948,EAW92949,EAW92950,BAA78555,BAA78556,BAF84143,AAH22804,AAH50600,AAC50633,P61086,Q9BR93,ABZ92425 Hs.50308,Hs.594859 GDB:6888524 DKFZp564C1216|DKFZp686J24237|E2-25K|HIP2|HYPG|LIG huntingtin interacting protein 2 protein-coding 1346213 UBE2L1 ubiquitin-conjugating enzyme E2L 1 10760570,8563171 7330 NG_003101,AJ007635,S81005 GDB:698184 L-UBC|UBC4|UBCL|UBEL1 pseudo 1350715 UBE2L2 ubiquitin-conjugating enzyme E2L 2 8672131 7331 GDB:5954123 1318085 UBE2L3 ubiquitin-conjugating enzyme E2L 3 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 8563171,8576257,8672131,16703398,16169070,15489334,15461802,15107846,14702039,12794086,12732733,12620973,12612082,12477932,12215439,11278816,11274149,11237715,11078524,10966114,10760570,10558980,10531381,10521492,10431818,9990509,9693040,8144544,16356860,14623119,17353931,12234920,9153201 7332 NM_198157,NM_003347,AP000553,AP000558,CH471095,AJ000519,AK125396,AK291083,BC053368,BU584304,CD690076,CR456606,CR591815,CR593455,CR594871,CR597825,CR602038,CR602465,CR604504,CR606832,CR607527,CR607714,CR607739,CR608960,CR609123,CR609763,CR610403,CR611646,CR611871,CR612269,CR615420,CR616187,CR618384,CR622922,CR625640,CR626405,S81003,X92962 NP_937800,NP_003338,EAW59459,EAW59460,CAA04156,BAF83772,AAH53368,CAG30492,AAB36017,CAA63538,P68036,CAK54633,CAK54932 Hs.108104,Hs.603229,Hs.708132 GDB:5954121 E2-F1|L-UBC|UBCH7|UbcM4 protein-coding 1345330 UBE2L4 ubiquitin-conjugating enzyme E2L 4 9605847 7333 NG_001209,AC008752,Y09515 GDB:6053725 pseudo 1317456 UBE2L6 ubiquitin-conjugating enzyme E2L 6 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 10085091,9153201,16583136,15670748,15131269,15107846,14702039,12477932,12121982,12075357,11786535,11237715,11078524,10894956,10866800,10558980,10521492,16189514 9246 NM_004223,AJ243268,AP002893,CH471076,AF031141,AF061736,AK093462,AK129621,AK226165,BC032491,CR457126,NM_198183,CR601863,CR609116 NP_937826,NP_004214,CAB64566,EAW73755,EAW73756,EAW73757,EAW73758,EAW73759,AAB86433,AAD17525,AAH32491,CAG33407,O14933,Q8N5D8,ABM82217,ABM85401 Hs.425777 GDB:9958933 MGC40331|RIG-B|UBCH8 protein-coding 1345214 UBE2L7P ubiquitin-conjugating enzyme E2L 7 pseudogene 283556 NG_002490,AF300336,AF352694,AL158801 UBCH7N3|UBE2L7|ube2l7 pseudo 1316910 UBE2M ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. 1559272 17353931,9694792,16620772,15694336,15489334,15361859,12522145,12477932,10828074,10722740,10207026 1559272 9040 NM_003969,AC016630,CH471135,AB012191,AF075599,AL569047,BC058924,BM559596,BM798750,BT006754,BU508830,BX342697,CR592285,CR597325,CR599501,CR600769,CR602537,CR604136,CR611045,CR614452,CR617667,CR623679,CR625272 NP_003960,EAW72612,EAW72613,BAA33145,AAC26141,AAH58924,AAP35400,P61081 Hs.406068 GDB:9954800 UBC-RS2|UBC12|hUbc12 protein-coding 1602247 UBE2MP1 ubiquitin-conjugating enzyme E2M pseudogene 1 606551 NR_002837,AC023824,CR599143 Hs.646441 pseudo 1348630 UBE2N ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. 11473255,16122702,17349954,15125833,14695475,16129784,8902611,16130169,18077395,17942533,17709375,16396496,16307917,16215985,16112642,15749714,15489334,15231748,14702039,14562038,12881723,12705856,12569095,12477932,12039045,11473244,11057907,10089880,8889548 7334 AK098233,AL110140,BC000396,BC003365,BC108704,BI459891,BT006873,CB243041,CR592204,CR594944,CR595779,CR598187,CR599550,CR620151,D83004,NM_003348,AC025260,CH471054,E12457 AAH00396,AAH03365,AAI08705,AAP35519,BAA11675,P61088,ABM87762,ABW03914,ABW03917,NP_003339,EAW97480,EAW97481,EAW97482 Hs.524630 GDB:6053724 MGC131857|MGC8489|UBC13|UbcH-ben protein-coding 1343621 UBE2NL ubiquitin-conjugating enzyme E2N-like 15772651 389898 NM_001012989,AL109622 NP_001013007,CAB72341,Q5JXB2 Hs.585177 protein-coding 1352894 UBE2NP1 ubiquitin-conjugating enzyme E2N pseudogene 1 317770 1606786 UBE2O ubiquitin-conjugating enzyme E2O 15862967,15489334,14702039,12522145,12477932,11311559,11214970,9373149,8125298 63893 NM_022066,AC015802,AC090699,CH471099,AB051521,AK000926,AK022940,AK024657,AK025999,AK225412,AL832432,BC004525,BC007822,BC022237,BC025977,BC036820,BC051868 NP_071349,EAW89395,EAW89396,EAW89397,EAW89398,EAW89399,BAB21825,BAB14320,BAB14948,BAB15313,CAH10644,AAH04525,AAH22237,AAH25977,AAH36820,AAH51868,Q9C0C9 Hs.16130 E2-230K|FLJ12878|KIAA1734 protein-coding 1313256 UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. 1580863 16710414,15489334,14702039,12477932,12107410,11230159 55585 AL592078,CH471121,AF116721,AJ243666,AK056388,AY112698,AY948200,BC000848,BC009286,BC015316,BC061583,BC070158,BC087836,NM_017582,BC107057,BC148185,BQ278712,CA391436,CR457219,CR597936,CR608922,CR613113,CR620497,CR624734 NP_060052,CAI16186,EAW53193,AAF71141,CAB65097,BAB71173,AAM60814,AAY23342,AAH00848,AAH15316,AAH61583,AAH70158,AAH87836,AAI07058,AAI48186,CAG33500,Q29SN7,Q7Z7E8 Hs.607928 GDB:11508794 GTAP|NICE-5|PRO3094|UBE2Q ubiquitin-conjugating enzyme E2Q (putative) 1|ubiquitin-conjugating enzyme e2q (putative) protein-coding 1605308 UBE2Q2 ubiquitin-conjugating enzyme E2Q family member 2 17471241,16300736,15489334,12477932 92912 NM_173469,AC019294,AC027104,CH471136,AK000617,AL117641,AL832429,BC006827,BC017708,BC034342,CR619639 NP_775740,EAW99233,EAW99234,CAH10654,AAH06827,AAH17708,AAH34342,Q8WVN8 Hs.23033 DKFZp762C143 protein-coding 1321905 UBE2R2 ubiquitin-conjugating enzyme E2R 2 Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. 1580863 15489334,15164053,15146197,14702039,12477932,12037680,10737800,9373149,8125298 54926 NM_017811,AL139113,CH471071,AA397839,AJ240087,AK000426,AK225880,AL133827,AW966809,BC004862,BC038356,BC047584,BI061548,BI908167,BQ432410,CD515389,CN310827,CN427315,CR457233,CR592127,CR606642,CR626708 NP_060281,CAI39656,EAW58478,EAW58479,EAW58480,CAC80336,BAA91156,AAH04862,AAH47584,CAG33514,Q712K3 Hs.708097 CDC34B|FLJ20419|MGC10481|UBC3B protein-coding 1343646 UBE2S ubiquitin-conjugating enzyme E2S This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. 1580863 16201836,15489334,15146197,12477932,1379239 27338 NM_014501,AC020922,CH471135,DQ120718,AB062397,BC004236,BC007554,BC065364,BC066948,CA421746,CN305224,CR594048,CR596308,CR611408,CR618880,CR622781,CR626565,M91670 NP_055316,EAW72377,ABC40675,BAB93484,AAH04236,AAH07554,AAH65364,AAH66948,AAA58446,Q16763,Q2QD04,Q6NXQ4 Hs.396393,Hs.592114 E2-EPF|E2EPF|EPF5 protein-coding 1604198 UBE2SP1 ubiquitin-conjugating enzyme E2S pseudogene 1 246719 NG_001583,AC005324 pseudo 1606013 UBE2T ubiquitin-conjugating enzyme E2T (putative) The covalent conjugation of ubiquitin to proteins regulates diverse cellular pathways and proteins. Ubiquitin is transferred to a target protein through a concerted action of a ubiquitin-activating enzyme (E1), a ubiquitin-conjugating enzyme (E2), such as UBE2T, and a ubiquitin ligase (E3) (Machida et al., 2006 [PubMed 16916645]).[supplied by OMIM] 16916645,16710414,15489334,14702039,12477932,11042152,10931946 29089 NM_014176,AL356953,CH471067,CS063588,AB032931,AF160215,AF161499,AK000504,AY542309,BC004152,BC019284 NP_054895,CAI15933,EAW91411,EAW91412,EAW91413,EAW91414,EAW91415,CAI84529,BAA93711,AAF67016,AAF29114,BAA91211,AAT08178,AAH04152,AAH19284,Q2TU36,Q9NPD8,ABM83655,ABM86901 Hs.5199 HSPC150|PIG50 protein-coding 1606149 UBE2U ubiquitin-conjugating enzyme E2U (putative) 16710414,15489334,12477932 148581 NM_152489,AL161916,AL445205,CH471059,BC029895 NP_689702,EAX06552,EAX06553,EAX06554,AAH29895,Q5VVX9,ABM82238,ABM85422 Hs.388746 MGC35130|RP4-636O23.1 protein-coding 1346082 UBE2V1 ubiquitin-conjugating enzyme E2 variant 1 Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Multiple alternatively spliced transcripts encoding different isoforms have been described for this gene. A pseudogene has been identified which is also located on chromosome 20. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. 16129784,9305758,9418904,10089880,17709375,17041755,16893187,15489334,14702039,12477932,11780052,11280764,11076860,11076848,11057907,9771976,9705497,9580084 7335 NM_199144,NM_022442,NM_001032288,AL034423,CH471077,AF049671,AL110132,AY008273,NM_021988,BC005215,BC008944,BU540046,BU595183,BU934624,BX647511,BX648147,CA453411,U39360,U97279,U97280,U97281,BC000468 NP_068823,NP_954595,NP_071887,NP_001027459,CAB76865,CAC16954,CAI19383,EAW75634,EAW75635,EAW75636,EAW75639,AAG24229,AAH00468,AAH08944,AAB72015,AAC02780,AAC02755,AAC02756,Q13404,Q5TGE1 Hs.420529,Hs.702293 GDB:9836334 CIR1|CROC-1|CROC1|UBE2V|UEV-1|UEV1|UEV1A protein-coding 1352007 UBE2V1P1 ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1 170556 NG_001061,AL117334 GDB:11508124 dJ687F11.3 pseudo 1318163 UBE2V2 ubiquitin-conjugating enzyme E2 variant 2 Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. 1580863 11473255,16786304,17349954,9418904,10089880,16129784,18284681,18178771,17964296,16169070,15952783,15749714,15725630,15489334,14702039,14695475,14562038,12665801,12477932,11473244,9705497,9199207 7336 AC021236,CH471068,DQ003720,AF049140,AK094617,BC007051,BC016332,BC016710,NM_003350,BC028673,BC062418,BT006744,CR407628,CR603464,CR603543,U62136,X98091 NP_003341,EAW86687,EAW86688,EAW86689,EAW86690,AAY16979,AAC05381,AAH07051,AAH16332,AAH16710,AAH28673,AAH62418,AAP35390,CAG28556,AAB04758,CAA66717,Q15819,ABM83433,ABM86647,ABW03321,ABW03463,ABW03497 Hs.491695 GDB:9864244 DDVIT1|DDVit-1|EDAF-1|EDPF-1|EDPF1|MMS2|UEV-2|UEV2 protein-coding 1605362 UBE2W ubiquitin-conjugating enzyme E2W (putative) 16368532,15489334,14702039,12477932,9373149,8125298 55284 NM_001001481,AC022826,AC022868,CH471068,AK001873,AK021735,AK024050,AK225554,AY948289,BC010900,BC016326,NM_018299,BX538145,BX648427,CR457275,CR597814,CR609430 NP_060769,NP_001001481,EAW87009,EAW87010,EAW87011,EAW87012,BAA91954,BAB13883,BAB14800,AAY24555,AAH10900,AAH16326,CAG33556,Q1XBE0,Q96B02,Q96FI0,ABZ92026 Hs.708021 FLJ11011|hUBC-16 protein-coding 1606510 UBE2Z ubiquitin-conjugating enzyme E2Z Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE2Z is an E2 enzyme (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM] 17597759,17160626,16344560,16189514,15761153,15489334,14702039,12477932 65264 NM_023079,AC091133,CH471109,AA843379,AB025426,AK023917,AK024030,AK091644,AK122770,AK130303,AL713782,BC015169,BC015890,CR457322,DA928380,EF623992 NP_075567,EAW94701,EAW94702,EAW94703,EAW94704,BAB87810,BAB14724,BAB14789,CAD28542,AAH15169,AAH15890,CAG33603,ABR25252,Q9H832 Hs.514297 FLJ13855|HOYS7|USE1 protein-coding 1314934 UBE3A ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. 1358469,1358255,1580863,1358256 16951183,16905559,16713569,16708385,16546135,16482544,16314411,15862967,15731267,15655249,15615769,15231748,15054837,14981718,14702039,12725589,12620801,12609982,12481031,12477932,12207887,12095913,12075004,11748306,11460706,11170455,11149944,10983987,10558980,10508479,10449731,10066826,9990509,9891052,9852095,9792887,9688277,9585605,9465301,9369221,9288088,9288087,9143503,8988172,8576257,8380895,16189514,12890688,9153201,16493710,8988171,8221889,18361419,18256157,18201976,18193166,18186074,17942561,17657785,17131388,17108031,17085449 1358469,1358255,1358256 7337 NM_130839,NM_000462,NM_130838,NG_002690,AC100774,AC124997,AF009339,AF009340,AF009341,AF016708,AJ001107,AJ001108,AJ001109,AJ001110,AJ001111,AJ001112,AJ001113,CH471151,X98021,X98037,AB194232,AF002224,AF002225,AF273050,AI378869,AK056239,AK130491,AK291405,AK292514,AL049363,AL831842,BC002582,BC009271,L07557,U84404,X98031,X98032,X98033 NP_570854,NP_000453,NP_570853,AAC39580,AAB69154,CAA04534,CAA04535,CAA04536,CAA04537,CAA04538,CAA04539,CAA04540,EAW57642,EAW57643,EAW57644,EAW57645,CAA66653,BAD69553,BAD69554,AAG34910,BAF84094,BAF85203,AAH02582,AAH09271,AAA35542,AAB49301,CAA66654,CAA66655,CAA66656,Q05086,Q5W7F7,Q5W7F8,Q96GR7,Q9BUI6,Q9H2G0,Q9UBN9 Hs.654383 GDB:228487 ANCR|AS|E6-AP|EPVE6AP|FLJ26981|HPVE6A protein-coding 1350282 UBE3AP1 ubiquitin protein ligase E3A pseudogene 1 9465301 7338 NG_002381,AC159540,AF010598 GDB:6276488 pseudo 1346140 UBE3AP2 ubiquitin protein ligase E3A pseudogene 2 10830953,9465301 7339 NG_001210,AF010599,AP000245 GDB:6276489 pseudo 1350438 UBE3B ubiquitin protein ligase E3B The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family. The encoded protein may interact with other proteins and play a role in stress response. Alternatively spliced transcript variants encoding the same protein isoform have been identified for this gene. 1580863 17672918,15489334,14702039,12837265,12689446,12477932,11483580,10962193 89910 NM_183415,AC007570,CH471054,AF130072,AF251046,AK022019,AK056015,AK127227,AL096740,BC013182,BC020348,BC032301,BC040155,BC051266,BC068221,NM_130466,BC108705,BC141880,BX537403,CR600136,CR601612,CR613548,CR614569,CR616108 NP_569733,NP_904324,EAW97865,EAW97866,EAW97867,EAW97868,AAK28419,CAH56410,AAH32301,AAH51266,AAH68221,AAI08706,AAI41881,CAD97645,Q7Z3V4 Hs.374067 DKFZp586K2123|DKFZp686A1051|FLJ45294|MGC131858|MGC78388 protein-coding 1348358 UBE3C ubiquitin protein ligase E3C 1580863 11278995,12692129,16344560,15489334,12853948,12690205,12477932,7584028,7584026 9690 NM_014671,AC004898,AC004975,CH236954,CH471149,AA596042,AK127280,BC014029,BC026241,CD366848,D13635,DB085748,DB454915 NP_055486,AAD51453,EAL23922,EAX04567,EAX04568,EAX04569,AAH14029,AAH26241,BAA02799,Q15386 Hs.118351 KIAA0010|KIAA10 protein-coding 1351066 UBE4A ubiquitination factor E4A (UFD2 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. 1580863 17353931,10089879,18069675,15611659,15489334,15019985,12665801,12477932,11802788,8590280,7829101 9354 NM_004788,AP001267,AP001582,CH471065,AF087968,AL713515,AW021567,AW290969,BC010938,BC030973,BC039240,BC052643,BC062695,BC111417,BC112367,BU167020,D50916 NP_004779,EAW67371,AAH30973,AAH52643,AAH62695,AAI11418,AAI12368,BAA09475,Q05BZ7,Q14139 Hs.75275,Hs.602967 GDB:11502176 E4|KIAA0126|MGC133315|UBOX2|UFD2 protein-coding 1312355 UBE4B ubiquitination factor E4B (UFD2 homolog, yeast) The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 11802788,17081983,16870146,16710414,16344560,15489334,15466860,15302935,14702039,12700669,12504083,12477932,10980605,10089879,9734811,9653645 10277 NM_001105562,NM_006048,AL096841,AL590639,CH471130,AB014584,AB028839,AF043117,AF091093,AF331520,AK023654,AK292444,BC047890,BC093696,CR603512,DA476510 NP_001099032,NP_006039,EAW71639,EAW71640,BAA31659,BAB40446,AAD02233,AAC72962,AAK69622,BAF85133,AAH93696,O95155,Q5SZ13 Hs.632370 GDB:11502415 E4|HDNB1|KIAA0684|UBOX3|UFD2 protein-coding 1606788 UBFD1 ubiquitin family domain containing 1 14702039,10493829 56061 NM_019116,AC002400,AC008870,CH471145,AK025656,AK092696,AK096189,AK124139,BC001413,BC007880,BC011830 NP_061989,AAC05812,EAW55817,EAW55818,EAW55819,O14562 Hs.3459 FLJ38870|FLJ42145|UBPH protein-coding 1603400 UBIAD1 UbiA prenyltransferase domain containing 1 11314041,17962451,17960116,16710414,16303743,15782423,15489334,12497587,12477932,9373149,8125298 29914 NM_013319,AL031291,AL049653,CH471130,CQ784038,AF117064,AK074890,AK222808,BC004468,BT006832,CR606264 NP_037451,EAW71686,CAF86981,AAD27581,BAD96528,AAH04468,AAP35478,Q9Y5Z9 Hs.522933 RP4-796F18.1|SCCD|TERE1 protein-coding 1343282 UBL2 ubiquitin-like 2 9671742 8457 GDB:9955192 1313456 UBL3 ubiquitin-like 3 1580863 11256614,16831869,16381901,15489336,15489334,15057823,14702039,12477932,11230166,11076863,10375635 5412 NM_007106,AL138684,AL139188,AL158193,CH471075,AF044221,AK056580,AL080177,BC044582,BC059385,CR533458,CR616220 NP_009037,EAX08446,EAX08447,EAX08448,AAD02323,CAB45762,AAH44582,AAH59385,CAG38489,O95164,Q0JTC1,Q0JTN6,CAL38126,CAL38242 Hs.145575 GDB:9834185 DKFZP434K151|FLJ32018|HCG-1|PNSC1 protein-coding 1348580 UBL4A ubiquitin-like 4A 1580863 2829204,17081983,16916647,16872915,15489334,12477932,8733135,6533418 8266 NM_014235,BX664739,CH471172,J03589,L44140,AK000405,BC020254,BC043346,BC053589,CR612889,CR624483,M35604 NP_055050,CAI43234,CAI43235,EAW72700,AAA36790,AAA92650,AAH43346,AAH53589,P11441,Q5HY80 Hs.76480 GDB:9954661 DX254E|DXS254E|G6PD|GDX|UBL4 ubiquitin-like 4 protein-coding 1602973 UBL4B ubiquitin-like 4B 16872915,15489334,14702039,12477932 164153 NM_203412,AL160006,CH471122,CS072275,AA608970,AK098556,BC058929 NP_981957,EAW56431,CAI93413,BAC05331,AAH58929,Q8N7F7 Hs.374027 FLJ25690 protein-coding 1351956 UBL5 ubiquitin-like 5 Ubiquitin-like proteins (UBLs) are thought to be reversible modulators of protein function rather than protein degraders like ubiquitin (MIM 191339).[supplied by OMIM] 1580863 17036923,15620657,15489334,15342556,15331561,14702039,12824502,12705895,12477932,11161819,16189514 59286 NM_024292,NM_001048241,AC008752,CH471106,AF313915,AK128885,BC007053,BC110839,BP213482,BT007355,CA418471,CR590001,CR593093,CR606232 NP_077268,NP_001041706,EAW84054,EAW84055,EAW84056,AAK14178,AAH07053,AAI10840,AAP36019,Q9BZL1 Hs.534477 GDB:10797037 FLJ46917|HUB1|MGC131795 protein-coding 1344940 UBL6 ubiquitin-like 6 170557 AC005220 GDB:11508126 1602843 UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 12644319,12477932,14667819,17081983,16731964,16189514,15489334 84993 NM_201265,NM_032907,AC012435,CH471136,AY037166,BC007913,BC030055,BC033919,BI551787,BI552240,CR591862,CR602642,CR603197,CR607195,CR610692,CR610832,CR615377,CR621691,CR622937,CR624391 NP_957717,NP_116296,EAW99331,EAW99332,EAW99333,EAW99334,EAW99335,EAW99336,EAW99337,EAW99338,EAW99339,AAK67643,AAH07913,AAH30055,AAH33919,Q96S82 Hs.334713 BMSC-UbP|MGC14421|TCBA1 protein-coding 1605293 UBLCP1 ubiquitin-like domain containing CTD phosphatase 1 16189514,15883030,15489334,14702039,12477932 134510 NM_145049,AC011418,CH471062,AK057996,AY444562,BC013425,CR615207 NP_659486,EAW61577,EAW61578,BAB71628,AAS68538,AAH13425,Q8WVY7 Hs.591733 CPUB1|FLJ25267|MGC10067 protein-coding 1323115 UBN1 ubinuclein 1 1580863 10725330,17081983,16344560,15302935,15146197,14718166,14702039 29855 NM_001079514,NM_016936,AC020663,AC027687,AF108459,CH471112,AA742357,AF108460,AF108461,AK022652,AK056282,AU120544,AW385352,BC013750,BG822152,BQ009566,CN428658,CR615790,CR625373,U19346 NP_001072982,NP_058632,AAF34869,EAW85249,EAW85250,AAF31755,AAF31756,AAA64188,Q9NPG3,AAI56177,AAI57078 Hs.440219 GDB:10796086 VT|VT4 protein-coding 1605087 UBOX5 U-box domain containing 5 16189514,15489334,14702039,12477932,11780052,11274149,10431818,10048485,9373149,8125298 22888 NM_199415,NM_014948,AL121891,CH471133,AB020667,AK022444,AK222570,AK222876,BC000515,BC046122,BC064544,BM992259,BX475562,CR457089 NP_955447,NP_055763,CAC09908,CAC09909,EAX10550,EAX10551,BAA74883,BAD96290,BAD96596,AAH00515,AAH46122,CAG33370,O94941,Q53GQ5,Q53HL0,Q6IAR5,Q6P2G3,Q86X87,Q9H4J2,ABM82941,ABM86131 Hs.654646 KIAA0860|RNF37|UBCE7IP5|UIP5 protein-coding 1345367 UBP1 upstream binding protein 1 (LBP-1a) 1580863 8114710,15489334,15471945,14702039,12477932,10644752,7836461,2006421,15207707 7342 NM_014517,AC093114,AC122176,CH471055,AF198487,AK023274,AK023278,AK023322,AK027177,AK293100,AL133032,AL831847,BC047235,CR593645,CR749798 NP_055332,EAW64454,EAW64455,EAW64456,EAW64457,AAF32274,BAB14501,BAF85789,AAH47235,CAH18658,Q9NZI7,ABZ92436 Hs.696578 GDB:1230437 DKFZp686L1745|LBP-1B|LBP-1a|LBP1A|LBP1B protein-coding 731465 UBQLN1 ubiquilin 1 This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. 11853878,18340109,18241885,17947293,17709205,17614368,17082820,16945923,16815845,16813565,16725228,16713569,16526030,16504527,16461334,16302009,16278862,16214290,16189514,16091357,15975090,15745979,15492808,15489334,15231748,15004330,14702039,12634373,12477932,12095988,11528422,11256614,11230166,11076969,10983987,10807547,10549293,10390159,9303440,9268694 29979 BC039294,CR596552,CR612259,NM_013438,NM_053067,AL354920,CH471089,AB035275,AB209468,AF176069,AF293384,AK027556,AK027576,AK074535,AL136643,BC010066,BC017289 AAH39294,Q59FJ2,Q5T6J5,Q5T6J9,Q9UMX0,NP_038466,NP_444295,CAI15100,CAI15101,EAW62658,EAW62659,EAW62660,EAW62661,EAW62662,EAW62663,EAW62664,BAB20436,BAD92705,AAD49751,AAG02473,BAC11045,CAB66578,AAH10066 Hs.9589 GDB:10796088 DA41|DSK2|FLJ90054|PLIC-1|XDRP1 protein-coding 1345154 UBQLN1P ubiquilin 1 pseudogene 387117 AB014085 pseudo 1350173 UBQLN2 ubiquilin 2 This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to bind the ATPase domain of the Hsp70-like Stch protein. 17098253,16813565,16713569,15975090,15772651,15231748,12972570,12477932,12200120,11827521,11717310,10983987,10894951,10675567,9853615 29978 NM_013444,AL354793,CH471154,AB015344,AF189009,AF293385,AL442081,BC069237 NP_038472,CAD13519,EAW93233,BAA34801,AAF17237,AAG02474,CAC09446,AAH69237,Q5D027,Q9UHD9 Hs.179309 GDB:10796089 CHAP1|CHAP1/DSK2|Dsk2|HRIHFB2157|LIC-2|N4BP4|PLIC-2|PLIC2|RIHFB2157 protein-coding 1312638 UBQLN3 ubiquilin 3 Summary: This gene encodes an ubiquitin-like protein (ubiquilin) that shares high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain a N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis, and proposed to regulate cell-cycle progression during spermatogenesis. 1580863 10831842,15489334,12477932,11121057,9373149,8125298 50613 NM_017481,AC087380,AF137396,CH471064,AF230481,BC036743 ABW03695,NP_059509,AAG41675,EAW68790,AAF67143,AAH36743,Q9H347 Hs.189184 GDB:10796226 TUP-1 protein-coding 1344813 UBQLN4 ubiquilin 4 16713569,11001934,18079109,15489334,12477932,11162551,10575211,16189514 56893 AL355388,CH471121,AB209566,AF113544,AF188240,AK098368,BC006410,BC018403,BC063841,CR617278,CR625574,NM_020131 NP_064516,CAH72633,CAH72634,EAW53005,EAW53006,EAW53007,EAW53008,EAW53009,BAD92803,AAF19084,AAF80171,AAH06410,AAH18403,AAH63841,Q59F94,Q5VYA1,Q9H8R7,Q9NRR5 Hs.283739 A1U|C1orf6|CIP75|UBIN protein-coding 1344129 UBQLN4P ubiquilin 4 pseudogene 285329 NG_005662,AC021059 C3orf12 pseudo 1605287 UBQLNL ubiquilin-like 14702039,12477932 143630 NM_145053,AC087380,CH471064,AK057255,BC012183,BC034977 NP_659490,EAW68789,BAB71398,AAH12183,AAH34977,Q8IYU4 Hs.10688 MGC20470|MGC26958 protein-coding 1347280 UBR1 ubiquitin protein ligase E3 component n-recognin 1 The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. 1580863 18366806,18089810,17569795,17462600,17222803,17018293,16311597,16169070,16055722,15548684,15489334,15317757,15302935,14702039,12477932,12434312,9653112,8901547,7633422 197131 NM_174916,AC068724,AC090514,AF067387,CH471125,Z47040,AF061556,AF525401,AK027803,AK054969,AK056441,AK127478,AK292516,AY061886,BC113505,BC113507,BE873236,BX648400,CR749326 NP_777576,AAC23677,EAW92584,AAC39845,AAO14997,BAB55380,BAF85205,AAL32103,AAI13506,AAI13508,CAH18181,Q8IWV7 Hs.591121 GDB:10013976 JBS|MGC142065|MGC142067 protein-coding 1313853 UBR2 ubiquitin protein ligase E3 component n-recognin 2 Proteolysis by the ubiquitin-proteasome system controls the concentration of many regulatory proteins. The selectivity of ubiquitylation is determined by ubiquitin E3 ligases, which recognize the substrate's destabilization signal, or degron. The E3 ligase UBR2 participates in the N-end rule pathway, which targets proteins bearing an N-terminal degron, or N-degron (Kwon et al., 2003 [PubMed 14585983]).[supplied by OMIM] 16311597,15548684,15489334,15317757,14702039,14585983,14574404,12477932,9205841 23304 NM_015255,AL049843,AL136223,AL391814,CH471081,AB002347,AK026948,AK026998,AK090874,AK125795,AK127310,AY061884,BC024217,BC064512,BX647467 NP_056070,CAI20399,CAI95685,CAI19919,CAI19920,CAI95666,EAX04094,EAX04095,EAX04096,EAX04097,BAA20806,BAC86295,AAL32101,AAH24217,AAH64512,Q8IWV8,AAI56046 Hs.529925 C6orf133|DKFZp686C08114|KIAA0349|MGC71112|RP3-392M17.3|bA49A4.1|dJ242G1.1|dJ392M17.3 protein-coding 1346219 UBR3 ubiquitin protein ligase E3 component n-recognin 3 17462990,16344560,15815621,15489334,14702039,12477932,8889548 130507 NM_172070,AC092641,CH471058,AB095944,AI142128,AK094741,AK126998,BF446017,BU158552,BU686724,BX281113,BX494687,BX649036,CR749469,DA108743,DA234864,DA301129,DA352029,DN831941,DR731153,AK127553,AK128490,AL834144,BC044060,BC044594,BC113010 NP_742067,AAY14890,EAX11248,EAX11249,EAX11250,BAC23120,BAC86783,CAH18299,Q68DC1,Q6ZT12,BAC87032,BAC87462,CAD38857 Hs.379548 DKFZp434P117|DKFZp686N10185|FLJ37422|KIAA2024|MGC126489|ZNF650 zinc finger protein 650 protein-coding 1350466 UBR4 ubiquitin protein ligase E3 component n-recognin 4 16247014,16214886,16061792,16055722,14702039,12477932,10718198,9455484,9110174,8619474,17353931 23352 NM_020765,AF348492,AJ505016,AK000331,AK001233,AK022322,AK022573,AK022924,AK023826,AK024105,AK025149,AK026543,AK056218,AK092390,AK123857,AK125800,AL049972,BC007962,BC015865,BC018694,BC041137,BC063573,BC073905,BC096758,CR610154,CR619441,AL357564,CH471134,AA748129,AB007931,AB037728,AF055010,AL137127 NP_065816,AAL83880,CAD43719,BAB14011,BAC86298,CAB43227,AAH07962,AAH18694,AAH63573,AAH73905,AAH96758,Q5T4S7,AAC09360,CAI19268,CAI19269,CAI19270,CAI19271,CAI19272,CAI19273,CAI19274,EAW94864,EAW94865,EAW94866,EAW94867,EAW94868,EAW94869,BAA32307,BAA92545,Q6ZUC7,Q96HY5 Hs.148078,Hs.649405 FLJ41863|KIAA0462|KIAA1307|RBAF600|RP5-1126H10.1|ZUBR1|p600 zinc finger, ubr1 type 1 protein-coding 1605385 UBR5 ubiquitin protein ligase E3 component n-recognin 5 This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. 17353931,10030672,12011095,18349819,18073532,17081983,17074762,16565220,16083285,16055722,15592455,15231748,14702039,12902990,12840015,12594221,12477932,12168954,11714696,11287654,10048485 51366 NM_015902,AP002907,AP002981,CH471060,AB020703,AF006010,AK002172,AL833555,BC037843,BC044598,BC137234,BC151231,U95000 NP_056986,EAW91843,EAW91844,EAW91845,EAW91846,BAA74919,AAD01259,AAH44598,AAI37235,AAF88143,O95071,Q49A65 Hs.591856 DD5|EDD|EDD1|FLJ11310|HYD|KIAA0896|MGC57263 protein-coding 1317795 UBTD1 ubiquitin domain containing 1 737633,1580863 16189514,15489334,15164054,14702039,12477932,9373149,8125298 737633 80019 NM_024954,AL359388,CH471066,AK021869,AK222597,BC007331 NP_079230,CAI14191,EAW49918,EAW49919,EAW49920,BAB13921,BAD96317,AAH07331,Q9HAC8 Hs.500724 FLJ11807 protein-coding 1601834 UBTD2 ubiquitin domain containing 2 16344560,15987890,15489334,15372022,14702039,12507522,12477932 92181 NM_152277,AC008671,AC024561,CH471062,AF251700,AK022894,AU117374,BC019910,BU849695,CR591327,CR604922 NP_689490,EAW61436,EAW61437,AAL99389,AAH19910,Q8WUN7 Hs.131570,Hs.179852 DC-UbP|DCUBP|MGC30022 protein-coding 734082 UBTF upstream binding transcription factor, RNA polymerase I Upstream binding factor (UBF) is a transcription factor required for expression of the 18S, 5.8S, and 28S ribosomal RNAs, along with SL1 (a complex of TBP (MIM 600075) and multiple TBP-associated factors or 'TAFs'). Two UBF polypeptides, of 94 and 97 kD, exist in the human (Bell et al., 1988 [PubMed 3413483]). UBF is a nucleolar phosphoprotein with both DNA binding and transactivation domains. Sequence-specific DNA binding to the core and upstream control elements of the human rRNA promoter is mediated through several HMG boxes (Jantzen et al., 1990 [PubMed 2330041]).[supplied by OMIM] 1580863,1580791 2330041,11741541,12393749,12646563,17699751,17505112,17260958,16924243,16858408,16809778,15970593,15924431,15761153,15752694,15635413,15598984,15489334,15342556,15282543,15249688,15226435,12748295,12590579,12554758,12498690,12477932,11969401,11916260,11790298,11698641,11592397,11250903,11106745,11075946,11042686,10329630,16777843,9582279,10202152,9426281,9126496,8702533,8641287,8552083,7651819,3413483,1940801,15723054 1580791 7343 NM_001076683,NM_001076684,NM_014233,AC004596,AJ308590,CH471178,U65487,AF289595,AK291733,AK292518,AK292577,BC031423,BC042297,BP230502,CR602921,DR000113,X53390,X53461,X56687 NP_001070151,NP_001070152,NP_055048,CAC34632,EAW51616,EAW51617,EAW51618,EAW51619,EAW51620,AAC51239,AAL55779,BAF84422,BAF85207,BAF85266,AAH31423,AAH42297,CAA37469,CAA37548,CAA40016,O00164,P17480,Q05BZ1,Q9BQR2 Hs.89781 GDB:250339 NOR-90|UBF transcription factor ubf protein-coding 1347744 UBXD1 UBX domain containing 1 15489334,12477932,11342112 80700 NM_025241,AC011498,CH471139,AF272893,AF272894,AL833695,BC007414,BC008288,BC017113,CR590857,CR598178,CR617368 NP_079517,EAW69219,EAW69220,EAW69221,EAW69222,EAW69223,AAK13257,AAK13258,AAH07414,AAH08288,AAH17113,Q9BZV1 Hs.435255 GDB:11502173 DKFZp667D109|UBXDC2 protein-coding 1316650 UBXD2 UBX domain containing 2 UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM] 16968747,16381901,15489336,15489334,15342556,14702039,12477932,11230166,11076863,9039502 23190 NM_014607,AC011893,CH471058,AI039259,AK026971,AK095402,AK292829,BC020806,BC035594,BP247627,BX647216,BX647662,CR600206,CR608643,D87684,EF199840 NP_055422,AAX88923,EAX11623,EAX11624,EAX11625,BAF85518,AAH20806,AAH35594,BAA13437,ABM90426,Q6PJ80,Q92575,CAL37639,CAL38355,ABM82049,ABM85228 Hs.709238 GDB:9785340 FLJ23318|KIAA0242|KIAA2042|UBXDC1|erasin protein-coding 1318044 UBXD3 UBX domain containing 3 737633 15489334,14702039,12477932 737633 127733 NM_152376,CH471134,Z98257,AK058158,BC036417,BC047428,BX648631 NP_689589,EAW94920,CAI20259,BAB71693,AAH36417,AAH47428,Q3ZCW1,Q5R386,Q96LJ8 Hs.432503 FLJ25429 protein-coding 1320427 UBXD4 UBX domain containing 4 737633 15489334,12477932 737633 165324 NM_181713,AC066692,CH471053,AK291192,AL832079,BC016364,BC037901,BC092484,BC093681,BC111997 NP_859064,AAY14818,EAX00777,EAX00778,EAX00779,EAX00780,BAF83881,AAH37901,AAH92484,AAH93681,AAI11998,P68543,Q53S92 Hs.591576 MGC138202 protein-coding 737092 UBXD5 UBX domain containing 5 This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. 16344560,16202387,16189514,15231748,14702039,14583468,12477932,11940653,9110174,8619474 91544 NM_145345,NM_001077262,NM_183008,AL451139,CH471059,AF370425,AF520989,AF521017,AF521018,AK074358,AK090792,AK093258,AK094198,AK097368,AK291503,AY007163,BC038106,BM987787,BX647774,BX648412,CR590200,CR612365,CR625017,CR749413,DA421971,DA989799 NP_663320,NP_001070730,NP_892120,CAI15828,CAI15831,CAI15832,CAI15833,CAI15834,CAI15835,CAI15836,CAI15840,CAI15841,CAI15842,EAX07823,EAX07824,EAX07825,EAX07826,EAX07827,EAX07828,EAX07829,EAX07830,AAQ15261,AAM76060,Q5T124,Q5T127,Q5T128,Q5T130,AAM74201,AAM74202,BAC04112,BAC04307,BAC05024,BAF84192,AAH38106,CAH56155,CAH18255,Q5T118,Q5T119,Q5T121 Hs.145061 COA-1|DKFZp686F04228|PP2243|SOC socius protein-coding 1603319 UBXD6 UBX domain containing 6 9027507,15489334,12477932 7993 NM_005671,AC009314,CH471080,AY302140,BC020694,BI462115,D83767,D83768 NP_005662,EAW63437,EAW63438,EAW63439,AAP57632,AAH20694,BAA18958,BAA18959,O00124 Hs.153678 D8S2298E|REP8 protein-coding 1607058 UBXD7 UBX domain containing 7 16344560,15489334,14702039,12477932,9872452 26043 NM_015562,AC069257,AC083822,CH471191,AB018337,AK026451,AK129880,BC028986,BC047420,BG253663,CR616203,DA119173 NP_056377,EAW53652,EAW53654,BAA34514,BAC85247,AAH28986,O94888,AAI60090 Hs.518524 KIAA0794 protein-coding 1604379 UBXD8 UBX domain containing 8 The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. 17353931,15489334,12477932,12372427,10048485 23197 NM_014613,AC010297,AC010316,CH471195,AB020694,AB088120,AL706430,BC001069,BC006145,BC014001,BC015791,CR618280 NP_055428,EAW85073,EAW85074,EAW85075,BAA74910,BAC22491,AAH01069,AAH06145,AAH14001,Q96CS3,ABM83626,ABM87292 Hs.484242 ETEA|KIAA0887 protein-coding 1351035 UCHH2 ubiquitin carboxyl-terminal esterase H2 (ubiquitin thiolesterase) 7344 GDB:128852 733510 UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) UCHL1 is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer. Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. It is present in all neurons (Doran et al., 1983 [PubMed 6343558]).[supplied by OMIM] 1580538,1302547,1302546,1580863,1300048,1302562,1302872 15882803,15716245,15489334,15228595,15221445,15214825,15194490,15048890,14722078,14702039,12913066,12784265,12775255,12705903,12539205,12477932,12408865,12210873,12123845,12032852,11716150,11603807,11535241,11502942,11027850,10471497,10454131,10203348,10048490,9790970,9774100,9435142,8671330,8471161,6343558,2947814,2163617,1849484,1840236,1286667,16189514,9521656,12082530,16130169,18093156,17929277,17925890,17690318,17599367,17287139,17200335,17144664,17108109,16941465,16888648,16698101,16644676,16642472,16626667,16537382,16450370,16402389,8639624,16380264,16371654,16369839,16316632,16177983,16007636 1580538,1302547,1302546,1302562,1302872 7345 NM_004181,AC095043,AF076273,CH471069,X17377,AB209038,AK054579,BC000332,BC005117,BC006305,BC018838,CR591761,CR595667,CR596405,CR598599,CR598723,CR600224,CR601816,CR605906,CR609313,CR609753,CR610215,CR610620,CR610993,CR613951,CR614115,CR614674,CR614782,CR616949,CR619178,CR623179,CR623929,CR624065,CR626014,X04741 NP_004172,AAY40923,AAD09172,EAW92978,EAW92979,EAW92980,EAW92981,EAW92982,EAW92983,CAA35249,BAD92275,AAH00332,AAH05117,AAH06305,CAA28443,P09936,Q4W5K6,ABM82924,ABM86114 Hs.518731 GDB:127831 PARK5|PGP9.5|Uch-L1 ubiquitin carboxy-terminal hydrolase l1 protein-coding 1353779 UCHL2 ubiquitin carboxyl-terminal esterase L2 (ubiquitin thiolesterase) 7346 GDB:127836 731673 UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) 1580863 2530630,16713569,16402389,15531586,15489334,15057823,14595809,12721789,12477932,10527871,10518943,9790970,9233788 7347 NM_006002,AL137244,CH471093,BC018125,BT019359,CR456855,CR610104,M30496 NP_005993,CAI12419,CAI12421,EAW80542,EAW80543,EAW80544,EAW80545,EAW80546,EAW80547,AAH18125,AAV38166,CAG33136,AAA36791,P15374 Hs.162241 GDB:127838 UCH-L3 protein-coding 1313432 UCHL5 ubiquitin carboxyl-terminal hydrolase L5 1580863 11163772,17139257,16990800,16906146,16710414,16501559,16402389,16027725,15489334,12477932,10931946,10810093,9373149,8125298,16189514 51377 NM_015984,AL136370,CH471067,AF147717,AF151828,AF157320,AK024751,AK225794,BC015381,BC015521,BC025369,BT006790,CR606979 NP_057068,CAI10828,CAI10829,CAI10830,CAI10831,CAI10832,CAI10833,CAI10834,CAI10835,CAI10836,CAI10837,EAW91233,EAW91234,EAW91235,EAW91236,EAW91237,EAW91238,AAD31528,AAD34065,AAF67486,AAH15521,AAH25369,AAP35436,Q5LJA3,Q5LJB2,Q5LJB3,Q5LJB4,Q9Y5K5 Hs.591458 GDB:11511207 CGI-70|UCH37 protein-coding 1604614 UCHL5IP UCHL5 interacting protein This gene encodes a protein identified by interaction with ubiquitin C-terminal hydrolase 37, which is thought to edit polyubiquitin chains on ubiquitinated substrates. Alternatively spliced transcripts encoding different isoforms have been described. 16395595,15489334,12477932,11163772,10391904,9099879,11279105,12806015 55559 NM_017518,NM_207107,XM_001125087,XM_001125086,CH471172,AF267739,AK125219,AL122036,BC008141,BC047613,CA441020,CR614042 NP_059988,NP_996990,XP_001125087,XP_001125086,EAW72866,EAW72868,EAW72869,EAW72871,EAW72874,AAF75785,BAC86087,CAB59176,AAH08141,Q0JTX7,Q99871,ABM85872 Hs.170835 HSXQ28ORF|UIP1 protein-coding 1318012 UCK1 uridine-cytidine kinase 1 Uridine/cytidine kinase-1 (EC 2.7.1.48) is a pyrimidine ribonucleoside kinase that catalyzes the phosphorylation of uridine and cytidine to form uridine monophosphate (UMP) and cytidine monophosphate (CMP) (Van Rompay et al., 2001 [PubMed 11306702]).[supplied by OMIM] 737633,1580863 18080217,15489334,15164053,14702039,12477932,11306702 737633 83549 NM_031432,AL358781,CH471090,AF125106,AF237290,AF254133,AK022317,AK057848,BC015547,BC091495,CR457281,CR611362 NP_113620,CAI40228,CAI40229,CAI40231,CAI40232,EAW87979,EAW87980,EAW87981,EAW87982,EAW87983,EAW87984,AAL75943,AAK28324,AAK49122,BAB14010,AAH15547,AAH91495,CAG33562,Q5JT09,Q5JT10,Q5JT13,Q96BJ0,Q9HA47 Hs.9597 FLJ12255|RP11-334J6.5|URK1 protein-coding 1602230 UCK2 uridine-cytidine kinase 2 The protein encoded by this gene catalyzes the phosphorylation of uridine monophosphate to uridine diphosphate. This is the first step in the production of the pyrimidine nucleoside triphosphates required for RNA and DNA synthesis. In addition, an allele of this gene may play a role in mediating nonhumoral immunity to Hemophilus influenzae type B. 17613536,16710414,16484797,15489334,15280220,15130468,12876357,12694191,12665801,12477932,12199906,11912132,11681623,11494055,11453085,11306702,10462544,8812458,220950,172293 7371 NM_012474,AL358115,AL451074,CH471067,AB062451,AF236637,BC002906,BT006860,CR456857,CR608443,D78335 NP_036606,CAH74066,EAW90767,EAW90768,EAW90769,BAB56162,AAK14053,AAH02906,AAP35506,CAG33138,BAA11349,Q9BZX2 Hs.458360 TSA903|UK|UMPK protein-coding 1342858 UCKL1 uridine-cytidine kinase 1-like 1 1580863 16964243,15489334,14702039,12477932,12199906,11780052,9373149,8125298 54963 NM_017859,AL118506,CH471077,AJ605558,AK000524,AK222559,AK223220,BC033078,CR594251 NP_060329,CAC15496,CAI21903,CAI21904,EAW75185,EAW75186,EAW75187,EAW75188,EAW75189,CAE54074,BAA91230,BAD96279,BAD96940,AAH33078,Q53HM1,Q5JWV1,Q9NWZ5 Hs.504998 UCK1-LIKE|UCK1L|URKL1 protein-coding 1626527 UCKL1OS uridine-cytidine kinase 1-like 1 opposite strand 100113386 AK128497 BAC87468,Q6ZR49 Hs.675030 FLJ46647 protein-coding 1349219 UCN urocortin This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. 1580792,1580863,1642796,1642774,1642775,1642781,1642783,1642782 8612563,18234674,17597629,17154253,16920724,16698078,16675846,16340217,15815621,15784504,15489334,15072543,14764822,14576187,14519439,12535698,12519893,12477932,12175707,12111693,12010647,11836334,11788672,11416224,11329063,11238533,11150640,10690896,10422876,10341863,9628819,9622018,9467598,9423932,9360550,8612576,861256 1580792,1642796,1642774,1642775,1642781,1642783,1642782 7349 NM_003353,AC013413,AF038633,CH471053,BC104470,BC104471,CR542244 NP_003344,AAY24297,AAC24204,EAX00605,AAI04471,AAI04472,CAG47040,P55089 Hs.534363 GDB:9806356 MGC129974|MGC129975|UI|UROC protein-coding 1348669 UCN2 urocortin 2 This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. 1580863 15476935,14592950,14519439,12615952,12477932,11416224,11226328,11329063,17074339,16626608,16476507,16223946,15489334 90226 NM_033199,NG_007065,AC121252,AC134772,CH471055,AF320560,BC002647,BC022096 NP_149976,EAW64891,AAK52672,AAH02647,AAH22096,Q96RP3,ABM82016,ABM85198 Hs.631914 SRP|UCN-II|UCNI|UR|URP protein-coding 1352070 UCN3 urocortin 3 (stresscopin) This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. 1580863 17074339,16626608,15949638,15489334,15476935,15070962,14764822,14519439,12615952,12477932,11416224,11329063 114131 AF361943,AL683826,AY026949,BC069530,BC100867,BC100868,BC100869,BC100870,BM310953,BQ776877,BQ778217,NM_053049 NP_444277,AAK67317,CAI23624,AAK11729,AAH69530,AAI00868,AAI00869,AAI00870,AAI00871,Q5SR91,Q969E3 Hs.511775 MGC119002|SCP|SPC|UCNIII 2289527 BW436_H protein-coding 735821 UCP1 uncoupling protein 1 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. 1624977,1624979,1624978,1580863 12756473,12732844,12565902,12477932,12395215,12375583,12119988,12084707,12075579,12032762,12029453,11994670,11780125,11572862,11466580,11439286,2380264,18370824,18068010,18059082,17635070,17516293,17397545,17242157,16953057,16896567,16373902,16338218,16180337,16132835,16084837,15955458,15865460,15815621,15536594,15489334,15355441,15281018,15120704,14671150,12951617,12910269,11317671,10999801,10805511,10772343,10620491,9398715,9119086,8968850,7951471,3165741 1624977,1624979,1624978 7350 NM_021833,AC108019,CH471056,X51952,X51955,BC069556,BC096736,BC098168,BC098258,BC098352,U28480 NP_068605,AAY41026,EAX05095,CAA36214,AAH69556,AAH96736,AAH98168,AAH98258,AAH98352,AAA85271,P25874,Q4KMT7 Hs.249211 GDB:128179 SLC25A7|UCP uncoupling protein 1 1643249,1643293,2289563 BW135_H,BW197_H,BW441_H protein-coding 69170 UCP2 uncoupling protein 2 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. 1580793,1580794,737760,737759,737761,1580863,1643130 9054939,9196039,18460338,18426866,18338972,18301352,18242170,18223008,18192542,18059082,18031357,18018477,17985659,17894153,17870627,17718790,17701054,17570749,17555951,17544366,17512314,17502873,17463068,17462780,17397545,17351641,17342078,17316620,17242157,17240372,17170091,17130180,17066476,17052689,16982633,16806233,16741267,16644712,16622580,16567833,12915397,12912909,12960023,12858170,12855674,12797456,12787871,12746756,12734183,12720538,12716765,12690079,12670931,12477932,12401727,12395215,12385772,12145158,12075579,12030845,11994670,11935148,11920154,11904148,11780125,11466580,11381268,10785390,10772343,10620491,10082652,10027754,9568704,9559644,9373149,9180264,9133562,8125298,16189514,16562813,16373902,16282353,16167150,16054055,16021520,15985484,15959859,15951317,15910756,15905464,15833942,15827742,15634780,15604415,15564896,15562023,15527803,15520825,15489334,15475368,15448008,15308133,15220218,15192823,15165610,15149891,15120704,15106800,15061987,15045692,15039126,15016641,14974928,14759071,14747301,14730379,14693721,14659466,14627764 1580793,1580794,737760,737759,737761,1643130 7351 NM_003355,AF019409,AF096289,AF132536,AJ223477,AJ223479,AP003717,CH471076,DQ087219,AK025742,AK222540,AK222557,BC011737,CR591630,CR600233,CR602354,CR607497,CR607585,CR608184,CR610551,CR610773,CR616061,CR616377,CR619395,CR622677,CR623697,CR624968,CR625575,CR626508,U76367,U82819 AAC39690,AAD21151,CAA11402,EAW74923,EAW74924,AAY68217,BAD96260,BAD96277,AAH11737,NP_003346,AAB48411,AAC51336,P55851,Q53HM3,ABM84224,ABM87735 Hs.80658 GDB:6278763 SLC25A8|UCPH uncoupling protein 2 1643371,2289505,2289508 BW329_H,BW447_H,BW452_H protein-coding 733835 UCP3 uncoupling protein 3 (mitochondrial, proton carrier) Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene has tissue-specific transcription initiation with other transcription initiation sites upstream of SM-1 (major skeletal muscle site). Chromosomal order is 5'-UCP3-UCP2-3'. Two splice variants have been found for this gene. 1580795,737762,1331525,1625189,1580863,1643130,737802 9196039,10935638,9180264,18484143,18426866,18426825,18348082,18249216,18223008,18059082,17870627,17786291,17786284,17728536,17676309,17587402,17571165,17544366,17512314,17502873,17351641,17150099,16966355,16752430,16741147,16644712,16631432,16622580,16373902,16352674,16337086,16215931,16178820,16046300,16006788,15978856,15959859,15910756,15870396,15564896,15520825,15496137,15489334,15346230,15211595,15120704,15045692,14708035,14702039,14671191,12843208,12824081,12756473,12734183,12720538,12670931,12634927,12612210,12477932,12395215,12351640,12217879,12170470,12145475,12145158,12075570,12051710,11994670,11920154,11875702,11842047,11683368,11319649,11238538,11151767,11126413,10958796,10785390,10772343,10748196,10620491,10329378,9769326,9498661,9480760,9325252,9305858,16189514 1580795,737762,1331525,1625189,1643130,737802 7352 NM_003356,NM_022803,AF012202,AF026958,AF032871,AF050113,AF127916,AP003717,CH471076,AF001787,AF011449,AK092685,AK290630,AK291889,BC008392,U82818,U84763 NP_003347,NP_073714,AAC51785,AAC18822,AAG02284,EAW74925,EAW74926,EAW74927,AAC51369,AAC51767,BAF83319,BAF84578,AAH08392,AAC51356,AAC51367,P55916 Hs.101337 GDB:6278985 SLC25A9 uncoupling protein 3 1643371,2289505,2289508 BW329_H,BW447_H,BW452_H protein-coding 1604015 UCRC ubiquinol-cytochrome c reductase complex (7.2 kD) UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM] 8592474,16054089,15489334,12477932,12107413,11042152,10591208,9373149,8889548,8125298,9651245 29796 NM_013387,AC004882,CH471095,AB028598,AF112217,AF161468,AF161500,AF161536,AK225973,BC005402,BC015971,NM_001003684,BI754905,BU935406,CA311834,CB999839,CD674029 NP_001003684,NP_037519,EAW59839,EAW59840,EAW59841,BAB20672,AAF17205,AAF29083,AAF29115,AAF29023,AAH05402,AAH15971,Q9NZY4,Q9P012,Q9UDW1,Q9UI02 Hs.284292 HSPC051|HSPC119|HSPC151 protein-coding 1605360 UEVLD UEV and lactate/malate dehyrogenase domains 15489334,14702039,12477932,12427560,8889549 55293 NM_018314,NM_001040697,AC027544,AC112694,CH471064,AA160640,AF503350,AK001930,AL134932,BC011011,BC064566,BM994955,BU633352,CB991602,CD369413,CR616778 NP_060784,NP_001035787,EAW68376,EAW68377,EAW68378,EAW68379,EAW68380,AAN32950,BAA91985,AAH11011,AAH64566,Q8IX04 Hs.407991 ATTP|FLJ11068|UEV3 protein-coding 1604819 UFC1 ubiquitin-fold modifier conjugating enzyme 1 UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM] 17353931,15489334,15071506,12477932,11042152,10810093,8889548 51506 NM_016406,AL590714,CH471121,AB154405,AF151884,AF161504,AK292776,BC005187,CF128121 NP_057490,CAH72141,EAW52646,EAW52647,BAD15374,AAD34121,AAF29119,BAF85465,AAH05187,Q5VTX1,Q9Y3C8,ABM84087,ABM87456 Hs.301412 HSPC155 protein-coding 732948 UFD1L ubiquitin fusion degradation 1 like (yeast) The protein encoded by this gene forms a complex with two other proteins, NPL4 and VCP, that is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580803,1580804,1358598,1580863 17681147,9063746,10024240,18270977,17331469,16381901,16341674,15489336,15489334,15461802,12910480,12477932,11979512,11574150,11076863,9540831,9373149,8125298,15215856 1580803,1580804,1358598 7353 NM_001035247,NM_005659,AC000068,AC000087,CH471176,AF141201,AJ239058,AK128120,AK225877,AY101594,BC001049,BC005087,BM761958,BX648374,BX648483,CB128364,CR456607,CR594272,CR607101,CR616266,U64444 NP_001030324,NP_005650,EAX03037,EAX03038,AAD28788,CAC20414,AAM48288,AAH01049,AAH05087,CAG30493,AAD08720,Q541A5,Q92890,CAL37746,CAK54634,CAK54933 Hs.474213 GDB:6089498 UFD1 ubiquitin fusion degradation 1-like protein-coding 1344837 UFM1 ubiquitin-fold modifier 1 UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitinylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM] 11483580,11042152,17353931,16527251,15489334,15071506,15057823,14702039,12477932 51569 AL356863,CH471075,AB154404,AF208844,AF305827,AF369953,AK095490,BC005193,CR457189,Z70222,NM_016617 NP_057701,CAH70411,CAH70412,CAH70414,EAX08605,BAD15373,AAF64258,AAK55530,AAH05193,CAG33470,CAA94181,P61960,Q96JQ7 Hs.643655,Hs.708104 BM-002|C13orf20|bA131P10.1 protein-coding 1350578 UFS urofacial syndrome 9199567 7354 GDB:6380714 1604425 UFSP1 UFM1-specific peptidase 1 (non-functional) 18321862,17182609,16344560,15489334,12690205,12477932,11239002 402682 NM_001015072,NG_007474,AC011895,AF312032,CH236956,AK292467,BC017456,BC067904,DB073745 NP_001015072,AAK21004,EAL23814,BAF85156,AAH67904,Q6NVU6 Hs.534845 UFSP protein-coding 1605068 UFSP2 UFM1-specific peptidase 2 17182609,15489334,14702039,12477932,12358155 55325 NM_018359,AC106897,CH471056,AK002062,AK091635,BC010493,CR457278,CR593750,CR602491,CR604246,CR610255,CR613186,CR615741,CR622569,CR622820 NP_060829,EAX04645,EAX04646,BAA92064,AAH10493,CAG33559,Q9NUQ7 Hs.508154 C4orf20|FLJ11200 protein-coding 1349188 UGCG UDP-glucose ceramide glucosyltransferase Glycosphingolipids (GSLs) are a group of membrane components that contain lipid and sugar moieties. They are present in essentially all animal cells and are believed to have important roles in various cellular processes. UDP-glucose ceramide glucosyltransferase catalyzes the first glycosylation step in glycosphingolipid biosynthesis. The product, glucosylceramide, is the core structure of more than 300 GSLs. UGCG is widely expressed and transciption is upregulated during keratinocyte differentiation. 1580863 8643456,9545298,18155680,17709137,16500619,15747776,15661399,15489334,15263008,14766899,12873973,12489486,12477932,11915344,11335714,10945987,9605861,8901638,1533793,16189514 7357 NM_003358,AL442066,CH471105,AJ420423,BC038711,D50840 NP_003349,CAI15902,EAW59091,EAW59092,AAH38711,BAA09451,Q16739,Q5T258 Hs.304249,Hs.593014 GDB:6860466 GCS protein-coding 1343925 UGCGL1 UDP-glucose ceramide glucosyltransferase-like 1 1580863 10694380,15489334,14702039,12913004,12682060,12477932,11278576,17353931 56886 NM_001025777,NM_020120,AC017079,AC108059,CH471103,AF227905,AK023240,AK023671,AK074251,AK074376,AK293066,BC041098 NP_001020948,NP_064505,AAY14735,AAY14885,EAW95356,AAF66232,BAB14632,BAF85755,AAH41098,Q53QP2,Q53SL3,Q9NYU2 Hs.34180 GDB:11504603 FLJ23671|FLJ23796|HUGT1 protein-coding 1351683 UGCGL2 UDP-glucose ceramide glucosyltransferase-like 2 1580863 14702039,12913004,12477932,11278576,10694380 55757 NM_020121,AL136104,AL158192,AL162500,AL607038,CH471085,AF227906,AK001735,AK021547,AL133051,BC017759,BC032302,BC067807,BC111021,BC125233,BC125234,CR595411,CR614801 NP_064506,CAI13708,CAI40146,CAI39962,EAX08960,AAF66233,BAA91869,BAB13842,CAB61378,AAH17759,AAH32302,AAH67807,AAI11022,AAI25234,AAI25235,Q05D90,Q08AC9,Q08AD0,Q2TAA6,Q5JU51,Q5T916,Q6NVZ4,Q8N5K0,Q9HAK3,Q9NV86,Q9NYU1 Hs.193226 GDB:11504389 FLJ10873|FLJ11485|HUGT2|MGC117360|MGC150689|MGC87276 protein-coding 734073 UGDH UDP-glucose dehydrogenase The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. 1334484,1580863,1300048 9737970,17927902,17209547,17073734,16495656,16021519,16002992,15898741,15247292,15146197,15044486,14702039,12682078,12477932,10973831,10575217,9850599,15489334 1334484 7358 AJ276162,AJ276163,AJ276164,CH471069,AF049126,AF061016,AJ007702,AK097930,AL699883,BC013430,BC022781,CN405740,NM_003359,AC021148,AJ272152,AJ272274 CAB98177,CAB98178,CAB98179,EAW92936,EAW92937,EAW92938,AAC05135,AAC36095,CAA07609,AAH22781,O60701,NP_003350,CAB75402,CAB75891,Q9NQ81,Q9NQ82,Q9NQ83,Q9NY20,ABM82042,ABM85221 Hs.572518 GDB:9711915 GDH|UDP-GlcDH|UDPGDH|UGD udp-glucose dehydrogeanse protein-coding 1349115 UGP1 UDP-glucose pyrophosphorylase 1 7359 GDB:119625 1320978 UGP2 UDP-glucose pyrophosphorylase 2 The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. 1580863 8354390,17353931,8631325,15489334,12477932,12107410,8612650,16189514 7360 NM_001001521,NM_006759,AC092588,AC114748,CH471053,AF086113,BC000173,BC002954,BC047004,BX537559,BX647825,CA389301,CD516624,CR602817,CR617685,CR619485,CR624254,U27460 NP_001001521,NP_006750,AAX93207,EAW99953,EAW99954,EAW99955,EAW99956,EAW99957,AAH00173,AAH02954,AAH47004,AAB05640,Q16851,Q53QE9 Hs.516217 GDB:119626 UDPG|UDPGP2|UGPP2|pHC379 protein-coding 1350018 UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. 1600438,1600445,1600450,1580863 1339448,1898728,8780690,18392554,18375480,18349289,18349273,18343383,18335219,18324905,18300238,18240903,18223459,18221820,18181169,18161889,18082937,18081723,18052087,18043502,18004206,17990575,17981384,17978490,17949292,17909964,17898154,17888052,17850628,17762398,17728214,17700594,17681105,17627617,17622938,17192505,17187418,17185998,17166930,17138857,17060921,17000907,16985250,16969497,16965601,16951398,16909274,16896007,16871576,16865249,16864595,16849011,16809730,16792515,16791115,16771603,16735790,16712705,16637266,16636344,16610035,16609363,16557566,16513443,16456808,16424820,16399345,16280036,16257926,16257834,16237771,16210851,16171463,16135700,16004608,15931768,15929176,15867280,15864130,15864125,15864124,15857854,15855726,15815621,15771689,15746053,15712364,15710570,15709212,15684703,17611564,17593033,17578897,17577039,17576806,17558305,17555467,17549067,17510208,17506482,17498780,17478602,17471158,17459361,17440429,17426648,17409981,17406868,17374650,17372243,17329852,17273745,17259171,17229650,17196409,15586176,15572581,15560369,15557560,15523087,15519273,15491385,15472229,15455371,15388579,15320866,15319464,15319294,15318931,15304120,15297419,15286088,15280927,15254716,15247627,15180166,15179405,15111762,15049432,15007088,14871858,14672974,14647407,14616765,14586211,14555305,14550264,12972027,12969965,12960109,12850492,12850481,12800608,12743455,12732844,12732365,12680285,12677174,12646172,12602902,12566446,12502904,12499798,12480568,12480553,12439228,12402338,12357057,12185559,12151360,12139570,12105841,12078936,12036456,11987245,11968090,11915038,11906189,11878580,11857560,11855932,11827650,11764096,11465080,11434514,11401924,11370628,11179460,11156391,11141380,11061796,11013440,10946897,10836148,10748067,10706110,10498597,10412811,9639672,9627603,9621515,9535849,9497253,9375768,9295054,9039987,8706880,8528206,8514037,8467709,8280139,8276413,8226884,8027054,7989595,7989045,7936809,7906695,7715297,7565971,3141926,3082969,2108603,1634606,1634050,12925779,12695355 1600438,1600445,1600450 54658 NG_002601,AC006985,AF110194,AF180372,AF297093,AF352795,AF357220,AY603772,CH471063,D87674,DQ374395,M84125,AK290834,AY435136,BC128414,BC128415,M57899,NM_000463 AAG43197,AAF01205,AAG30424,AAK31204,AAK27223,AAS99732,EAW71053,BAA25600,ABC88474,AAA61248,BAF83523,AAR95637,AAI28415,AAI28416,AAA63195,P22309,Q5DT03,Q9BX76,Q9H3F9,Q9UK62,NP_000454 Hs.554822 GNT1|HUG-BR1|UDPGT|UGT1|UGT1A udp glycosyltransferase 1 family, polypeptide a1 protein-coding 1346968 UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. 1580863 18161889,18052087,17603215,17558305,16475821,16019943,15618702,15489334,15117964,15057901,14672974,12910533,12847094,12695339,12477932,11901093,11465080,11434514,11179432,10836148,10748067,10497143,10024527,9647757,9325166,9295054,9271343,8467709,2108603 54575 NM_019075,NG_002601,AC006985,AC019072,AC114812,AF297093,CH471063,U39550,AK025403,AY435137,BC020971,BC053576,BC069210,U89508 NP_061948,AAG30417,EAW71058,AAA80547,AAR95638,AAH20971,AAH53576,AAH69210,AAB81537,Q13406,Q5DT02,Q7Z6H8,Q9HAW8 Hs.654499 GDB:10796646 UDPGT|UGT1J protein-coding 1344583 UGT1A11P UDP glucuronosyltransferase 1 family, polypeptide A11 pseudogene 10836148,9295054 54574 NG_002601,AC019072,U39551 GDB:10796648 UGT1K pseudo 1348544 UGT1A12P UDP glucuronosyltransferase 1 family, polypeptide A12 pseudogene 17952380,10836148,9295054 54573 NG_002601,AC019072,U39552 GDB:10796650 UGT1L pseudo 1603459 UGT1A13P UDP glucuronosyltransferase 1 family, polypeptide A13 pseudogene 11434514,10836148 404204 NG_002601,AC019072,AF297093 pseudo 1347706 UGT1A2P UDP glucuronosyltransferase 1 family, polypeptide A2 pseudogene 10836148,9295054,1339448 54580 NG_002601,AC114812,M84126 GDB:10796652 UGT1BP pseudo 1352957 UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. 1580863 9295054,18161889,17558304,16738032,15057901,15047194,14986168,14672974,14570768,12639971,11465080,11434514,11179460,11179432,10836148,10748067,9616184,9535849,9271343,9230212,8780690,1503396,1339448,12695355 54659 NM_019093,NG_002601,AB120359,AB120360,AB120361,AB120362,AC006985,AC114812,AF297093,AF465192,AF465193,AF465194,CH471063,M84127,AY435138 NP_061966,BAD12517,BAD12518,BAD12519,BAD12520,AAG30423,AAL73500,AAL73501,AAL73502,EAW71060,AAA92020,AAR95639,P35503,Q5DT01,Q75XT3,Q75XT5,Q8WX89,Q8WX90,Q8WX91,AAI66641 Hs.554822 GDB:10796654 UGT1C udp glycosyltransferase 1 family, polypeptide a3 protein-coding 1343519 UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. 1580863 1898728,18433817,18223460,18223459,18161889,17556526,15855727,15855726,15708967,15135306,15057901,14871856,14672974,14570768,12477932,12433823,11465080,11434514,10836148,10220490,9535849,9295054,9271343,8467709,8280139,8276413,1634050,1339448,12695355 54657 AC114812,AF297093,AF465195,AF465196,AF465197,CH471063,M84128,AY435139,BC121036,BC131623,BC139784,M57951,NM_007120,NG_002601,AC006985 AAY24023,AAG30422,AAL73503,AAL73504,AAL73505,EAW71061,AAA61249,AAR95640,AAI21037,AAI31624,AAI39785,AAA63196,P22310,Q0VAJ1,Q53QD2,Q5DT00,Q8WX86,Q8WX87,Q8WX88,NP_009051 Hs.554822 GDB:10796656 HUG-BR2|UDPGT|UGT1D udp glycosyltransferase 1 family, polypeptide a4 protein-coding 1346830 UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. 1580863 18223459,14672974,11465080,11434514,10836148,9295054,8467709,1339448 54579 NG_002601,AC006985,AC114812,AF297093,AF404263,AF404264,AF404265,AF404266,AF404267,AF404268,AF404269,CH471063,M84129,AY435140,NM_019078 Q5QTE2,Q5QTE3,Q5QTE4,Q5QTE5,AAI41471,NP_061951,AAG30421,AAQ03151,AAQ03152,AAQ03153,AAQ03154,AAQ03155,AAQ03156,AAQ03157,EAW71059,AAA61250,AAR95641,P35504,Q5DSZ9,Q5QTD9,Q5QTE0,Q5QTE1 Hs.654499 GDB:10796658 UDPGT|UGT1E protein-coding 1349499 UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. 1580863 15761114,15319294,15284531,15258112,15247627,14672974,14646291,12732365,12623074,12480553,12477932,12170472,12009407,11714888,11465080,11434514,10836148,9800648,9466822,9429234,9295054,8889548,8877866,8280139,8276413,2108603,1898728,1634050,1339448,15770079,15770010,3141926,18318774,18161889,17965524,17927138,17925173,17622933,17609736,17479406,17424838,17301691,17085674,16969497,16797247,16529747,16399344,16399343,16344560,16305586,16141797,15855726 54578 NM_205862,NM_001072,NG_002601,AC006985,AC114812,AF014112,AF297093,CH471063,M84124,M84130,AY435138,AY435141,BC001521,BC011409,BC019861,BE463503,BM688740,BM924331,DB014621,J04093 NP_995584,NP_001063,AAB87411,AAG30420,EAW71055,AAA61247,AAC41717,AAR95639,AAR95642,AAH01521,AAH19861,AAA61251,P19224,Q5DSZ8,Q8WUQ4,Q96DH9 Hs.654499 GDB:11504391 GNT1|HLUGP|HLUGP1|MGC29860|UDPGT|UGT1|UGT1F protein-coding 1351935 UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. 1580863 16030093,15929176,15709193,15682470,15319294,15073122,14672974,14557274,12944498,12806614,12732365,12122597,12010889,11677206,11562393,11465080,11434514,11037804,10836148,9295054,9271343,8467709,18349289,18271934,18223459,18054330,18052087,18021430,17870518,17850628,17558305,17529886,17479406,17406868,17325733,17072959,16969497,16724991,16636344,16620591,16199544,16159430,16143514,16097053,16086712 54577 NM_019077,NG_002601,AC006985,AC114812,AF110191,AF110192,AF110193,AF296126,AF296127,AF296128,AF297093,AF434903,AF434904,AF436810,AF461758,AF502567,U39570,AY435142,U89507 NP_061950,AAG43194,AAG43195,AAG43196,AAK97173,AAK97174,AAK97175,AAG30419,AAQ04300,AAQ04301,AAQ04478,AAQ04806,AAQ07456,AAA80548,AAR95643,AAB81536,Q13407,Q4R0Z5,Q5DSZ7,Q5K632,Q5K672,Q5K673,Q5K674,Q96PN9,Q96PP0,Q96PP1,Q9H3G0,Q9H3G1,Q9H3G2,Q9HAW7,AAI46419,AAI53173 Hs.654499 GDB:10796660 UDPGT|UGT1G protein-coding 1342708 UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. 1580863 9295054,18454993,18052087,17603215,17339869,16397224,15319294,15247627,15057901,14672974,12920167,12847094,12639971,12433820,12042666,11901093,11465080,11434514,11179460,10836148,10497143,9705221,9647757,9535849,8467709,1339448,12695355 54576 NM_019076,NG_002601,AC006985,AC019072,AC114812,AF297093,AF465198,AF465199,AF465200,CH471063,U42604,AF030310,AF462267,AF462268,AY435143 NP_061949,AAG30416,AAL73506,AAL73507,AAL73508,EAW71057,AAA86625,AAB84259,AAL75963,AAL75964,AAR95644,Q13460,Q5DSZ6,Q9HAW9,AAI56849 Hs.554822 GDB:10796662 UDPGT|UGT1H protein-coding 1348090 UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenols. 1580863 1910331,18221820,18052087,17965524,17924828,17761781,17700594,17576806,17558305,17529886,17440429,17406868,17339869,17264800,17115150,17072959,16636344,16397224,16344532,16198654,15864130,15855726,15815621,15712364,15709193,15489334,15470081,15370961,15286088,15284532,15258099,15115919,15057901,14672974,14660172,14550264,14521259,12944498,12847094,12623074,12582161,12477932,12402338,12139570,11854913,11677206,11465080,11434514,11370628,11061796,11013440,10946897,10836148,10385426,10335444,9847074,9639672,9627603,9621515,9295054,8706880,8467709,8280139,8276413,8226884,7989595,7989045,7906695,7715297,2108603,1898728,1634050,1339448,12695355 54600 NM_021027,NG_002601,AC006985,AC019072,AC114812,AF297091,AF297093,AF481810,AF481811,AY273792,AY282534,AY282535,AY282536,AY282537,AY282538,AY282539,AY282540,AY282541,AY282542,AY326393,AY326394,AY326395,AY345903,CH471063,AF056188,AY435144,BC043491,BC058844,S55985 NP_066307,AAF03522,AAG29816,AAG30418,AAQ05894,AAQ05895,AAQ84220,AAQ84221,AAQ84222,AAQ84223,AAQ84224,AAQ84225,AAQ84226,AAQ84227,AAQ84228,AAQ84229,AAQ92914,AAQ92915,AAQ92916,AAR10772,EAW71054,AAC31425,AAR95645,AAH58844,AAB19791,O60656,Q330M4,Q4R0Z6,Q4R0Z7,Q53E75,Q5DSZ5 Hs.654499 GDB:10796664 HLUGP4|LUGP4|UDPGT|UGT1AI udp glycosyltransferase 1 family, polypeptide a9 protein-coding 70821 UGT1A@ UDP glycosyltransferase 1 family, polypeptide A1 1580863 7361 Q8WUQ4 GDB:120007 69489 UGT2A1 UDP glucuronosyltransferase 2 family, polypeptide A1 The olfactory neuroepithelium, which lines the posterior nasal cavity, is exposed to a wide range of odorants and airborne toxic compounds. Odorants, which are mostly small lipophilic molecules, enter the mucus flow and reach the odorant receptors on sensory neurons. Odorant sensing is generally a transient process, requiring an effective signal termination, which could be provided by biotransformation of the odorant in the epithelial supporting cells. Xenobiotic-metabolizing enzymes in the olfactory epithelium have been suggested to catalyze inactivation and facilitate elimination of odorants.[supplied by OMIM] 1300048,1580863 10359671,16141793,12376738,11376859,11179432,10748067 10941 NM_006798,AC093829,CH471057,AJ006054,BC142640,BE463677,CD105882 NP_006789,EAX05593,EAX05594,CAB41974,Q9Y4X1,AAI56240,AAI57013 Hs.225950 GDB:9958621 protein-coding 1601678 UGT2A2 UDP glucuronosyltransferase 2 family, polypeptide A2 16141793,9847074 574537 NM_001105677,AC093829 NP_001099147 Hs.225950 protein-coding 1605934 UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 12975309,9373149,8125298 79799 NM_024743,AC021146,CH471057,AK025587,AK225308,AY358727,AY542891,BC130533 NP_079019,EAX05580,EAX05581,BAB15179,AAQ89089,AAS48425,AAI30534,Q6UWM9 Hs.122583 FLJ21934 protein-coding 1320630 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 1580863 8333863,18300939,17909004,17576790,16335952,15489334,12477932,10748067,10024527,9373149,8125298 7365 NM_001075,AC021146,CH471057,AK222839,AK222872,AK292738,BC113649 NP_001066,EAX05576,EAX05577,EAX05578,BAD96559,BAD96592,BAF85427,AAI13650,P36537,Q53GQ9,Q53GU2 Hs.201634 GDB:6278987 MGC142209 udp glycosyltransferase 2 family, polypeptide b10 protein-coding 1345333 UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 1580863 8333863,15489334,12477932,9675083 10720 NM_001073,AC111000,AC114797,AF135417,CH471057,AF016492,BC069441,BC107059,BC107060 NP_001064,AAY41046,AAF78146,EAX05586,EAX05587,AAC27891,AAH69441,AAI07060,AAI07061,O75310,Q4W5B9,Q9NS17 Hs.339811 GDB:9864754 MGC129611|MGC129612 protein-coding 1343349 UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 The UGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. UGT2B8 demonstrates reactivity with estriol. See UGT2B4 (MIM 600067).[supplied by OMIM] 1580863 7835232,18281521,18161889,17988216,17848572,17698910,17687269,17576806,17507624,17244352,16859836,16690804,16513443,15961980,15952058,15815621,15666817,15618667,15318931,15126881,15065092,15044558,12880121,12646996,12386133,12376738,12010866,11129427,10748067,10468930,10024527,9295060,9202245,8399210,7835904,7574722,3100939,2116769,12695355 7366 AAB28536 NM_001076,AC019173,AF179404,CH471057,AF180322,AF548389,AK289419,U06641,U08854 NP_001067,AAF25010,EAX05574,AAD55093,AAN40695,BAF82108,AAA83406,AAC50077,AAB28536,P54855,Q9UHH3,AAI41424,AAI46571 Hs.150207 GDB:5892418 UGT2B8 udp glycosyltransferase 2 family, polypeptide b15 protein-coding 1350006 UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 UGT2B17 belongs to the family of UDP-glucuronosyltransferases (UGTs; EC 2.4.1.17), enzymes that catalyze the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a variety of substrates, including steroid hormones.[supplied by OMIM] 1580863 8798464,18281521,18247404,18093280,17988216,17935910,17848572,17826523,17698910,17416778,17387331,16896035,16332934,16220109,15666817,11853692,9364925,6746859,76619,18334593 7367 NM_001077,AC134921,AC147055,CH471293,U59209 NP_001068,EAW55622,AAC25491,O75795,AAI41518 Hs.575083 GDB:6278917 protein-coding 1353542 UGT2B24P UDP glucuronosyltransferase 2 family, polypeptide B24 pseudogene 10623541 54572 NG_001282,AC108078,AF179876 GDB:10796666 pseudo 1347362 UGT2B25P UDP glucuronosyltransferase 2 family, polypeptide B25 pseudogene 10623541 54571 NG_001281,AC114786,AF179877 GDB:10796668 pseudo 1343331 UGT2B26P UDP glucuronosyltransferase 2 family, polypeptide B26 pseudogene 10623541 54570 NG_001280,AC107401,AF179878 GDB:10796670 pseudo 1346099 UGT2B27P UDP glucuronosyltransferase 2 family, polypeptide B27 pseudogene 10623541 54569 NG_001279,AC107401,AF179879 GDB:10796672 pseudo 1349165 UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 1580863 11300766 54490 NM_053039,AC114786,CH471057,AF177272,AF177273,AF177274 NP_444267,EAX05588,EAX05589,EAX05590,AAK31807,AAK31808,AAK31809,Q9BY64,AAI56173,AAI57012 Hs.653154 GDB:11508628 protein-coding 1345630 UGT2B29P UDP glucuronosyltransferase 2 family, polypeptide B29 pseudogene 10623541 54568 NG_001278,AC079749,AF179880 GDB:10796674 pseudo 1344144 UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 1580863 8333863,18161889,17263731,16849011,16513443,16344560,15489334,15319348,15318931,12810707,12806625,12477932,10748067,10376768,10222050,9295054,9271674,8687483,7835904,3109396,2492950,1554722,13929 7363 NM_021139,AC093829,AC108078,AF135416,CH471057,DQ520733,AF064200,AF081793,AJ005162,AK292748,AY529122,BC026264,Y00317,DB185148 NP_066962,AAF78145,EAX05591,EAX05592,ABF47107,AAC95002,AAC32272,CAA06396,BAF85437,AAS47487,AAH26264,CAA68415,P06133,Q1HBF9,Q6QQX7,ABM86129 Hs.285887 GDB:5891331 UGT2B11 udp glycosyltransferase 2 family, polypeptide b4 protein-coding 1351542 UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 The UGTs (EC 2.4.1.17) serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. UGT2B7 has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Its subcellular location is the microsome.[supplied by OMIM] 1580863 2159463,18315786,18161889,17978490,17965522,17924828,17724700,17706742,17687269,17670842,17579197,17446261,17442341,17440429,17429314,17363580,17339869,17329852,17263731,17241877,17178267,17115150,16849011,16595916,16580900,16466707,16397224,16103897,15815621,15689421,15615884,15611481,15489334,15472229,15320866,15319348,15318931,15001974,14871856,14660172,12811366,12746330,12629580,12623074,12477932,12185559,11883901,11186130,10833461,10779377,10748067,10222050,10024527,9373149,8674824,8125298,7835904,12695355 7364 NM_001074,AC111000,AF282881,AY185169,CH471057,AK223142,BC030974,J05428,S82485 NP_001065,AAY41045,AAG01472,AAO65542,EAX05582,EAX05583,EAX05584,EAX05585,BAD96862,AAH30974,AAA36793,AAD14400,P16662,Q5QKR3,Q99912,Q9HCT7,ABM84583,ABM86740 Hs.654424 GDB:5892203 UGT2B9 udp glycosyltransferase 2 family, polypeptide b7 protein-coding 1350116 UGT2B@ UDP glycosyltransferase 2 family, polypeptide B cluster 1639428 7362 1601933 UGT3A1 UDP glycosyltransferase 3 family, polypeptide A1 14702039,12477932 133688 NM_152404,AC016612,AC112204,CH471119,AK057066,AK091977,AK125803,AK290809,AK315851,BC035012,BC068446 NP_689617,EAW55927,EAW55928,EAW55929,BAB71358,BAC03783,BAF83498,BAF98742,AAH35012,AAH68446,Q6NUS8,Q8IYS9 Hs.254699 FLJ34658 protein-coding 1604978 UGT3A2 UDP glycosyltransferase 3 family, polypeptide A2 16303743,12975309,12477932 167127 NM_174914,AC016612,CH471119,CS051177,AK075383,AY358416,BC103924,BC103925 NP_777574,EAW55931,CAI72084,BAC11583,AAQ88782,AAI03925,AAI03926,Q3SY77 Hs.348941 MGC119426|MGC119429 protein-coding 1343181 UGT8 UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase) Galactocerebrosides are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system and are also present in small amounts in kidney. The key enzymatic step in the biosynthesis of galactocerebrosides consists of the transfer of galactose to ceramide catalyzed by UDP-galactose ceramide galactosyltransferase (CGT, EC 2.4.1.45). The enzyme encoded by the CGT gene is the first involved in complex lipid biosynthesis in the myelinating oligodendrocyte.[supplied by OMIM] 1580863 12376738,9748263,9373149,9125199,8125298,8457384,7941321,8661025,16125333,15489334,15229398,12925779,12477932 7368 NM_003360,AC122938,CH471057,U32370,AK127970,AK225763,BC075069,U30930,U62899 NP_003351,EAX06307,AAC50815,AAH75069,AAC50565,AAC51187,Q16880 Hs.144197 GDB:3811929 CGT protein-coding 1344907 UHMK1 U2AF homology motif (UHM) kinase 1 1580863 12093740,18414510,17726090,16978587,16710414,15489334,12782393,12477932,10574929,7724523 127933 NM_175866,AL359699,CH471067,CS300608,AJ536197,AK058195,AK292369,BC014917,BC026046,AL834136 NP_787062,CAH70392,EAW90706,EAW90707,EAW90708,EAW90709,CAK32272,CAD60192,BAF85058,AAH14917,AAH26046,Q5JPA7,Q8TAS1,CAI46199 Hs.127310 KIS|Kist protein-coding 1352913 UHRF1 ubiquitin-like, containing PHD and RING finger domains, 1 This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. Multiple transcript variants encoding different isoforms have been found for this gene. 1580863 10646863,17934516,1868030,17967883,17673620,17081983,17067204,16964243,16344560,16195352,16007129,15964557,15361834,15178447,15146197,15057824,15033738,15009091,14993289,14702039,12838312,12477932,11290415,8889549 29128 AK025578,AK074377,AK289389,BC039136,BC046179,BC113875,CN335888,DA451120,EF560733,AF274048,NM_013282,NM_001048201,AB075601,AC027319,AC053467,AC104525,AF220266,AF220267,AY787925,CH471139,AA026356,AB177623,AB177624,AF129507 AAK55744,BAB15177,BAF82078,AAI13876,ABQ59043,Q2HIX7,Q96T88,ABZ92323,NP_037414,NP_001041666,BAC20576,AAF64067,AAV40831,EAW69187,EAW69188,EAW69189,BAF36719,BAF36720,AAF28469 Hs.108106 GDB:10796227 FLJ21925|ICBP90|MGC138707|Np95|RNF106|hNP95 protein-coding 1316354 UHRF1BP1 UHRF1 (ICBP90) binding protein 1 15361834,14702039,14574404,12477932 54887 NM_017754,AL033520,AL139100,CH471081,AA287944,AB126777,AK001228,AK122918,AK127691,BC026164,BX640641,DB636320 NP_060224,CAI20282,CAI20353,EAX03798,EAX03799,BAD32740,CAE45788,Q6BDS2,Q6N082 Hs.700656 C6orf107|FLJ20302|RP3-349A12.1|dJ349A12.1 protein-coding 1604632 UHRF1BP1L UHRF1 (ICBP90) binding protein 1-like 12477932,9734811 23074 AB014601,AK026472,AK125813,AL136821,AL833850,BC003391,BC014891,BC026286,BC127017,BX647380,CB988442,NM_015054,NM_001006947,AC010203,AC126474,CH471054 EAW97619,EAW97620,BAA31676,CAB66755,CAD38709,AAH03391,AAH14891,AAH26286,AAI27018,CAH56181,A0JNW5,Q63HQ7,NP_055869,NP_001006948 Hs.620701 KIAA0701 protein-coding 1320632 UHRF2 ubiquitin-like, containing PHD and RING finger domains, 2 This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. 14702039,12477932,15178429,14741369,12176013,15489334,15361834,15231748,15164053 115426 NM_152896,AL133480,AL353718,CH471071,AB071698,AF274049,AK122730,AL137728,AL833522,BC028397 NP_690856,CAI13293,CAI13294,CAI13295,EAW58743,BAB68317,AAM33799,CAH56383,CAH10389,AAH28397,Q69YI0,Q96PU4,ABW03737,ABW03403 Hs.493401 GDB:10796228 DKFZp434B0920|DKFZp686G0837|MGC33463|NIRF|RNF107|RP11-472F14.2|URF2 protein-coding 1601999 UIMC1 ubiquitin interaction motif containing 1 17525340,12080054,18306035,18270812,18077395,17698038,17621610,17562356,17525342,17525341,17081983,15489334,15302935,15231748,14702039,12954732,12477932 51720 NM_016290,AC027317,AC027318,CH471195,CS300600,AF113538,AF284749,AF284753,AF349313,AK023044,AL137375,BC006078,BC032561,BX537376,CR603572,CR609161,CR619611,EF077642,EF077644 NP_057374,EAW85041,EAW85042,EAW85043,EAW85044,EAW85045,EAW85046,CAK32264,AAF14875,AAG59851,AAG59855,AAK61871,CAB70716,AAH06078,AAH32561,CAD97618,Q96RL1,Q9NTC5 Hs.232721 RAP80|X2HRIP110 protein-coding 1345767 ULBP1 UL16 binding protein 1 1580863 15051759,12847260,12782710,12753652,12477932,11827464,11777960,11491531,11239445,16901903,15489334,15240696 80329 NM_025218,AL355497,CH471051,AB052907,AF304377,AF346416,AF346595,AF425265,AK292519,BC035416 NP_079494,CAH74121,EAW47776,BAB61049,AAK13081,AAL76416,AAN40838,AAN32759,BAF85208,AAH35416,Q5VY81,Q9BZM6 Hs.653255 GDB:11502788 RAET1I protein-coding 1346628 ULBP2 UL16 binding protein 2 1580863 11239445,17391757,15489334,15051759,12975309,12847260,12782710,12753652,12477932,11827464,11777960,11491531,11444831 80328 NM_025217,AL583835,CH471051,AB052906,AF304378,AF321606,AY026825,AY358665,BC034689 NP_079493,CAH71655,EAW47777,EAW47778,BAB61048,AAK13082,AAN39920,AAK07688,AAQ89028,AAH34689,Q5VUN4,Q8IZX9,Q9BZM5 Hs.656778 GDB:11504605 N2DL2|RAET1H protein-coding 1353152 ULBP3 UL16 binding protein 3 1580863 11239445,15051759,12753652,12477932,11827464,11777960,11754823,11491531 79465 NM_024518,AL355497,CH471051,AB052908,AF304379,AF346596,AY027538,BC098127 NP_078794,CAH74128,EAW47772,BAB61050,AAK13083,AAN40839,AAK13049,AAH98127,Q5VY82,Q9BZM4 Hs.326556 GDB:11504607 RAET1N protein-coding 1344835 ULK1 unc-51-like kinase 1 (C. elegans) 1580863,1643329 11146101,9693035,17595159,17192257,17081983,16940348,15014045,14702039,12477932,11076863,9872452,17353931 1643329 8408 NM_003565,AC131009,CH471054,AB018265,AF045458,AK095774 NP_003556,EAW98529,BAA34442,AAC32326,BAC04625,O75385,Q8N931,AAI11604 Hs.47061 GDB:9862806 ATG1|FLJ38455|UNC51|Unc51.1 protein-coding 1320930 ULK2 unc-51-like kinase 2 (C. elegans) This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 16169070,15489334,15014045,14702039,12477932,10557072,9734811 9706 NM_014683,AC005722,AC015726,CH471212,AB014523,AK098316,BC034988,BC039310,CR591285,CR613562 NP_055498,EAW50910,EAW50911,EAW50912,BAA31598,AAH34988,Q8IYT8 Hs.168762 GDB:9958167 KIAA0623|Unc51.2 protein-coding 1349871 ULK3 unc-51-like kinase 3 (C. elegans) 1580863 15489334,12477932 25989 NM_001099436,AC091230,AK075047,AL117482,AL360256,BC036117,BC048289,BC056423,BC157884,BI829133,BQ927030,CR614098,CR617200 NP_001092906,CAB55955,CAB96176,AAH36117,AAH56423,AAI57885,Q6PHR2 Hs.513034 DKFZP434C131|FLJ90566 protein-coding 1346964 ULK4 unc-51-like kinase 4 (C. elegans) 737633,1580863 15489334,14702039,12477932,11829490,11181995,10737800 737633 54986 AC097356,AC099059,AC099537,AC104305,AC104307,AC137935,CH471055,AK000581,AK093396,AL133104,AW504756,BC014794,BC018795,NM_017886,BC040739,BF855180,BQ707161,BX096790,DC417397 NP_060356,EAW64629,EAW64630,EAW64631,EAW64632,EAW64633,EAW64634,EAW64635,EAW64636,BAA91270,CAB61411,AAH14794,AAH40739,Q96C45,AAI60098 Hs.656192 DKFZp434E1822|FAM7C1|FLJ20574|REC01035 protein-coding 737075 UMOD uromodulin (uromucoid, Tamm-Horsfall glycoprotein) This gene encodes uromodulin, the most abundant protein in normal urine. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. Uromodulin may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of uromodulin in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the autosomal dominant renal disorders medullary cystic kidney disease-2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN). These disorders are characterized by juvenile onset of hyperuricemia, gout, and progressive renal failure. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. 737832,1580863 2409603,7873609,18375198,18068104,18047931,17245395,17151335,17065110,17010121,16982955,16164624,15983957,15785410,15589826,15575003,15489334,15327389,15266028,15253706,15086896,15033942,14907962,14702039,14570881,14570709,14569098,14531790,12900848,12832729,12629136,12624657,12477932,12471200,11982485,11932463,11730273,10765940,10330352,9884403,9873244,8382593,3498215,3453112,2249987,8323280,8254051,8397318,8264130 737832 7369 NM_001008389,AC106796,AY061638,AY162970,CH471186,AK055722,AK091961,AK096043,AK127643,AK127648,BC035975,BF593229,BG428950,M15881,NM_003361,M17778 NP_003352,NP_001008390,AAL27853,AAO64446,EAW50314,EAW50315,BAC87070,AAH35975,AAA36798,AAA36799,P07911,Q8NHW8 Hs.654425 GDB:133729,GDB:9955267 ADMCKD2|FJHN|HNFJ|MCKD2|THGP|THP uromodulin protein-coding 1351162 UMODL1 uromodulin-like 1 16026467,15194491,14702039,12477932,10830953 89766 NM_173568,NM_001004416,AP001620,AP001621,AP001622,CH471079,AB051810,AB051811,AB096965,AB096966,AB096967,AB096968,AB096969,AB096971,AB096972,AB096973,AK093654,AK124223,AY771619,AY771620,BC039531,AB096970 NP_775839,NP_001004416,EAX09576,BAD23798,BAD23799,BAD23800,BAD23801,BAD23802,BAD23803,BAD23804,BAD23805,BAD23806,BAD23807,BAD23808,BAC04211,AAX14814,AAX14815,Q5DID0,Q6L9N1,Q6L9N2,Q6L9N3,Q6L9N4,Q6L9N5,Q6L9N6,Q6L9N7,Q6L9N8,Q6L9N9 Hs.242520 GDB:10796459 protein-coding 1323612 UMPS uridine monophosphate synthetase 1580863,1599702 6893554,17854773,17607371,17549346,17237621,16818689,16328050,16169070,16142362,15999119,15489334,14562021,12477932,9042911,8069469,6574608,3279416,2767686,2624233 1599702 7372 NM_000373,AB041359,AC022336,AY691629,CH471052,AB062285,AK291306,AL080099,BC000364,BC007511,CR456787,CR590318,CR592156,CR593249,CR597849,CR599292,CR601942,CR604719,CR608134,CR614357,CR618739,CR623728,CR624319,CR625054,D86227,D86228,D86230,J03626,M36661 NP_000364,BAB20663,AAT85801,EAW79407,EAW79408,BAB93468,BAF83995,CAB45710,AAH00364,AAH07511,CAG33068,BAA19920,BAA19921,BAA19923,AAA61255,AAA61256,P11172 Hs.2057 GDB:120482 OPRT uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) protein-coding 1343859 UNC119 unc-119 homolog (C. elegans) This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. 70051,1580863 9538874,10329014,17579091,16189514,16169070,15489334,14757743,14702039,12527357,12496276,12477932,11303027,9761287,8576185 70051 9094 NM_005148,NM_054035,AC005726,AF125997,AF125998,CH471159,AF028788,AF028789,AK124531,AK292329,BC027176,BX641031,BX647747,BX648530,CR600662,CR600663,CR609095,CR613554,CR621178,U40998 NP_005139,NP_473376,AAD31422,EAW51093,EAW51094,EAW51095,EAW51096,EAW51097,EAW51098,AAD01875,AAD01876,BAF85018,CAE46019,AAC50360,Q13432,Q6MZL1,AAH27176 Hs.410455 GDB:9954861 HRG4 protein-coding 1345863 UNC119B unc-119 homolog B (C. elegans) 14702039,12477932 84747 NM_001080533,AC069234,CH471054,AK057021,AK126367,AL137327,BC004815,BC070088 NP_001074002,EAW98216,CAH10700,AAH04815,Q69YW6,Q9BST3,ABM84260,ABM87649,ABM87661,ABW03603,ABW03606 Hs.127610 GDB:11508861 MGC5139 protein-coding 1345956 UNC13A unc-13 homolog A (C. elegans) Proteins of the UNC13 family, such as UNC13A, are diacylglycerol and phorbol ester receptors with ligand affinities similar to those of protein kinase C (see PRKCA; MIM 176960). Rodent Unc13a is a presynaptic protein with an essential role in synaptic vesicle priming (Rossner et al., 2004 [PubMed 15123597]).[supplied by OMIM] 1580863 15123597,14702039,12871971,10470851,14734538 23025 NM_001080421,AC008761,AB028955,AK055065,AK127106,BC011004 NP_001073890,BAA82984,Q9UPW8 Hs.164502 KIAA1032|Munc13-1 protein-coding 734027 UNC13B unc-13 homolog B (C. elegans) This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. 1580863 11797009,11343654,10488064,9736751,9704016,9195900,8999968,9607201,10233166,16138900,15466010,15342556,14593078,12871971,12477932,12163476 10497 NM_006377,AL160274,AL353795,AL354669,CH471071,AB209998,AF020202,BC111781,BC111800,BP236693 NP_006368,EAW58383,EAW58384,BAE06080,AAC19406,AAI11782,AAI11801,O14795,Q2NKI6,Q2NKJ5,Q4LE73,Q5VYM9 Hs.493791 MGC133279|MGC133280|MUNC13|UNC13|Unc13h2|hmunc13 munc13-2 protein protein-coding 1354378 UNC13C unc-13 homolog C (C. elegans) 1580863 14702039,12477932 440279 NM_001080534,AC010867,AC022302,AC034103,AC068711,AK054981,AK091491,AL834407,BC036420,BC039494,BC040740 NP_001074003,BAB70836,BAC03675,CAD39069,AAH40740,Q8NB66 Hs.657273 DKFZp547H074 protein-coding 1604204 UNC13D unc-13 homolog D (C. elegans) This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. 18311812,18240215,17993578,16825436,16778144,16630545,16278825,15489334,15466010,14702039,14699162,14622600,12477932,11214971 201294 NM_199242,NG_007266,AC087289,CH471099,AJ578444,AK024474,AW451853,BC024740,BC067084 NP_954712,EAW89322,EAW89323,EAW89324,CAE17516,BAB15764,AAH67084,Q70J99 Hs.41045 FHL3|HLH3|HPLH3|Munc13-4 protein-coding 1603630 UNC45A unc-45 homolog A (C. elegans) UNC45A plays a role in cell proliferation and myoblast fusion, binds progesterone receptor (PGR; MIM 607311) and HSP90 (HSPCA; MIM 140571), and acts as a regulator of the progesterone receptor chaperoning pathway (Price et al., 2002 [PubMed 12356907]; Chadli et al., 2006 [PubMed 16478993]).[supplied by OMIM] 17353931,17872978,17081983,16478993,15489334,15231748,14702039,12477932,12356907 55898 NM_018671,NM_001039675,AC068831,CH471101,AB014729,AB014736,AK000905,AK125523,AK125721,AK291622,AL357532,AL357537,AL357538,BC006214,BC010995,BC037992,BC045635,CR615762,CR624111 NP_061141,NP_001034764,EAX02127,EAX02128,EAX02129,BAB20266,BAB20273,BAA91418,BAF84311,CAB93428,CAB93429,AAH06214,AAH10995,AAH37992,AAH45635,Q9H3U1,Q9NWG3,ABM83879,ABM87199 Hs.389461 FLJ10043|GC-UNC45|GCUNC-45|GCUNC45|IRO039700|SMAP-1 protein-coding 1313830 UNC45B unc-45 homolog B (C. elegans) UNC45B plays a role in myoblast fusion and sarcomere organization (Price et al., 2002 [PubMed 12356907]).[supplied by OMIM] 1580863 15489334,14702039,12477932,12356907 146862 NM_173167,NM_001033576,AC022916,CH471147,AF539794,AK095929,AL832355,AL833281,BC101062,BC101063,BX647642 NP_775259,NP_001028748,EAW80162,EAW80163,EAW80164,AAO13384,AAI01063,AAI01064,Q8IWX7 Hs.379636 GDB:11505800 CMYA4|FLJ38610|MGC119540|MGC119541|SMUNC45|UNC45 protein-coding 1343022 UNC50 unc-50 homolog (C. elegans) 634436 17004066,12477932,11230166,11042152,10980252,9373149,8125298 634436 25972 NM_014044,AC010134,AC064860,CH471127,AF077038,AK222599,AL080115,AY017215,AY251534,BC017019,BC025992,BC039078,BC091481,CR533464 NP_054763,AAX93232,AAY14975,EAX01900,EAX01901,EAX01902,AAD27771,BAD96319,CAB45714,AAK08987,AAP20057,AAH17019,AAH25992,AAH39078,AAH91481,CAG38495,Q53HI1 Hs.13370 DKFZp564G0222|GMH1|HSD23|UNCL|URP protein-coding 1344019 UNC5A unc-5 homolog A (C. elegans) UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM] 15573119,15489334,14702039,12655055,12598906,12477932,11853319,8889548,12598531,12810718,15729359 90249 NM_133369,AC027318,AC091897,AC091902,CH471195,AB075856,AK131380,BC009333,BC033727,BC122556,BC157824,BI818609,BM712478,CR598115 NP_588610,EAW85050,EAW85051,EAW85052,BAB85562,BAD18531,AAH09333,AAH33727,AAI22557,AAI57825,Q05BS3,Q08E75,Q6ZN44 Hs.33191 GDB:10450522 FLJ16449|KIAA1976|UNC5H1 protein-coding 736493 UNC5B unc-5 homolog B (C. elegans) UNC5B belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM] 1580863 15729359,14702039,12975309,12655055,12598906,12477932,12359238 219699 NM_170744,AL359384,AL359832,CH471083,AB096256,AK022859,AK094595,AK128132,AY126437,AY358351,BC018947 NP_734465,CAI16089,CAI16090,CAI16737,CAI16738,EAW54420,EAW54421,BAC57998,BAB14276,BAC04382,AAM95701,AAQ88717,Q5T3R9,Q5T3S0,Q8IZJ1,AAI66694 Hs.585457 GDB:10450523 UNC5H2|p53RDL1 protein-coding 1347353 UNC5C unc-5 homolog C (C. elegans) This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. 634450,1580863 9782087,9126742,18054557,17967459,16371650,15729359,15574733,15489334,12810718,12655055,12477932,11213262,11103947 634450 8633 BC034747,BC041156,NM_003728,AC097656,AC098584,AC105395,AC106881,CH471057,AF055634,AK290500 BAF83189,AAH41156,O95185,Q4W5H4,NP_003719,AAY41022,EAX06061,EAX06062,AAC67491 Hs.584831 GDB:9956069 UNC5H3 protein-coding 1342658 UNC5CL unc-5 homolog C (C. elegans)-like 14769797,12477932 222643 NM_173561,AL031778,CH471081,AY510109,BC035284 NP_775832,CAI20283,EAX04007,AAS80165,AAH35284,Q8IV45 Hs.158357 MGC34763|ZUD protein-coding 1319479 UNC5D unc-5 homolog D (C. elegans) 15302935,15142956,12975309 137970 NM_080872,AC012215,AC013302,AC105230,CH471080,AB055056,AK122610,AK122615,AY358147 NP_543148,EAW63381,EAW63382,EAW63383,BAB83663,AAQ88514,Q6UXZ4,AAI56114,AAI56909 Hs.238889 GDB:11508130 FLJ16019|KIAA1777|PRO34692|Unc5h4 protein-coding 1343381 UNC84A unc-84 homolog A (C. elegans) This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Several alternatively spliced transcript variants of this gene have been described; however, the full-length nature of some of these variants has not been determined. 1580863 17724119,17631499,17132086,17081983,16445915,16344560,16079285,15489334,14702039,12958361,12477932,12036294,11593002,10375507,9872452,8889548 23353 NM_025154,AC099731,CH236965,CH471144,AB018353,AF202724,AK022469,AK022816,AK025737,AK074320,AK093851,AK128170,AY776160,BC013613,BC113916,BC142707,BC151827,BC152418,BM689998,BX538211,BX648893,BX649069,CR591842,DA738650,BX640866 NP_079430,EAL23707,EAW87174,EAW87175,EAW87176,EAW87177,EAW87178,BAA34530,AAF15888,BAB14046,AAV52793,AAH13613,AAI42708,AAI52419,CAD98070,O94901,Q5S4N2 Hs.438072 GDB:9955931 FLJ12407|KIAA0810|MGC176649|SUN1 protein-coding 1322098 UNC84B unc-84 homolog B (C. elegans) 1580863 17827388,17132086,17081983,16381901,15489336,15489334,15461802,14615979,12958361,12477932,12393179,12239280,11230166,11076863,10818110,10591208,9734811,9110174,8619474,10508607,10375507,17353931,16380439 25777 NM_015374,AL021707,CH471095,AB014568,AF038178,AF202723,AK289744,AY682988,BC030684,BC069253,BC094797,BC111549,BC111717,BI908715,BX537962,CR456474 NP_056189,EAW60265,EAW60266,EAW60267,EAW60268,EAW60269,EAW60270,EAW60271,BAA31643,AAF15887,BAF82433,AAT90500,AAH30684,AAH69253,AAH94797,AAI11550,AAI11718,CAD97926,CAG30360,Q0JV22,Q2T9F7,Q504T5,Q6NT72,Q9UH99,CAL37638,CAK54455,CAK54754 Hs.517622 GDB:11510618 KIAA0668|MGC133055|MGC133056|SUN2 protein-coding 1343732 UNC93A unc-93 homolog A (C. elegans) 1580863 12381271,14702039,14574404,12477932 54346 NM_018974,CH471051,AJ422141,AJ508812,AK091987,BC098248,BC099718,BC105635 NP_061847,EAW47499,EAW47500,EAW47501,CAD19521,CAD48541,AAH98248,AAH99718,AAI05636,Q4QQJ4,Q86WB7 Hs.567508 GDB:10796676 MGC119395|MGC119397|dJ366N23.1|dJ366N23.2 protein-coding 1323726 UNC93B1 unc-93 homolog B1 (C. elegans) This gene encodes a protein with similarity to the C. elegans unc93 protein. The Unc93 protein is involved in the regulation or coordination of muscle contraction in the worm. 1580863 18241724,18082565,16973841,16554811,16111919,15489334,12477932,11867227,9847074,9110174,8889548,8619474 81622 NM_030930,NG_007581,AC004923,CH471076,AJ271326,AJ422142,AY007125,BC025669,BC033623,BC092472,BC101568,BC105104,BM980538,BU622714,CR615912 NP_112192,AAD15416,EAW74676,EAW74677,CAC19791,CAD19522,AAH25669,AAH33623,AAH92472,AAI01569,AAI05105,Q05BS6,Q58F16,Q9H1C4 Hs.502989 GDB:11508132 MGC126617|UNC93|UNC93B protein-coding 2293163 UNC93B2 unc-93 homolog B2 pseudogene (C. elegans) 11867227 641922 XR_037560,XR_037638,XR_037209,AC079804 UNC93B2P pseudo 2290519 UNC93B3 unc-93 homolog B3 pseudogene (C. elegans) 11867227 285296 XM_001714301 XP_001714353 UNC93B3P pseudo 2292102 UNC93B4 unc-93 homolog B4 pseudogene (C. elegans) 11867227 643384 XR_016363,XM_001719874 XP_001719926 protein-coding 2292185 UNC93B6 unc-93 homolog B6 (C. elegans) 255620 XM_173132,XM_001724909,XM_942210 XP_173132,XP_001724961,XP_947303 protein-coding 1626690 UNCX UNC homeobox 12690205,11181995 340260 NM_001080461,AC073094,CH236953,CH471144 NP_001073930,EAL23940,EAW87199 Hs.232272 UNCX4.1 protein-coding 1316252 UNG uracil-DNA glycosylase This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. 1599705,1580863 7671300,9016624,15875659,12458223,12369930,12171929,12161446,12136137,11081631,10888643,10393198,9882380,9753728,9724657,9525900,9490791,9371639,9151883,9045683,8900285,8884263,8670846,8551605,8332455,7926048,7697717,7556436,2555154,2001396,1923798,17090531,15096517,16103149,15142377,16120388,16075307,10805771,18270339,18196298,18079698,17704764,17537817,17360488,17272283,17101234,17081983,17029639,16951200,16928741,16216562,16005850,15970468,15967827,15489334,15339922,15327777,15302935,15107486,15084312,14580190,12958596,12810074,12670953,12667798,12525642,12477932,16189514 1599705 7374 NM_003362,NG_007284,A64377,AC007637,AF526277,CH471054,X79093,X89398,AK291341,BC015205,NM_080911,BC050634,BG326541,CR541673,CR596393,CR613290,CR613619,CR619335,CR749342,X15653,Y09008 NP_550433,NP_003353,CAA03797,AAM77695,EAW97846,EAW97847,EAW97848,EAW97849,EAW97850,CAA61578,CAA61579,BAF84030,AAH15205,AAH50634,CAG46474,CAH18195,CAA33679,CAA70211,P13051,Q68DM5,Q6FHS8 Hs.191334 GDB:119844 DGU|DKFZp781L1143|HIGM4|UDG|UNG1|UNG15|UNG2 protein-coding 1349423 UNGP1 uracil-DNA glycosylase pseudogene 1 8694824 57004 NG_001287,AC137527,X92985 GDB:3846345 pseudo 1349949 UNGP2 uracil-DNA glycosylase pseudogene 2 8694824 57005 NG_001288,AL110292,X92986 GDB:3846489 pseudo 1351551 UNGP3 uracil-DNA glycosylase pseudogene 3 319122 NG_002503,AC010582,AL136040 pseudo 1319446 UNK unkempt homolog (Drosophila) 737633,1580863 16094384,15489334,15302935,12477932,11214970 737633 85451 NM_001080419,NG_007266,AC087289,AB051540,BC033751,BC038802,BC039606,BC046175,BC053362,CR591163 NP_001073888,BAB21844,AAH53362,Q9C0B0 Hs.584768,Hs.655493 KIAA1753|ZC3H5|ZC3HDC5 zinc finger ccch type domain containing 5 protein-coding 1604323 UNKL unkempt homolog (Drosophila)-like 16344560,16341674,15761153,15616553,15489334,14702039,12477932,11181995,11157797,8889548,1339381 64718 AK022685,AK024842,AK027013,AK124977,AM944365,BC000150,BC011924,BM763288,BQ776895,CF136587,DA558634,DA739764,NM_023076,NM_001037125,AE006467,AL031709,AL031721,AL032819,CH471112 EAW85659,EAW85660,EAW85661,EAW85662,EAW85663,EAW85664,BAB14178,BAB15626,CAQ16184,AAH00150,AAH11924,Q4VXX8,Q96EV1,NP_075564,NP_001032202,AAK61278,AAK61279,Q96RZ1,Q9H9P5 Hs.643536 GDB:11503273 C16orf28|FLJ12623|FLJ23360|KIAA0734|MGC5179|ZC3H5L|ZC3HDC5L protein-coding 1604688 UNQ1940 HWKM1940 12975309,12690205 389558 NM_205855,AC091736,CH236950,AK290250,AY358803,BC137311,BC137312 NP_995327,EAL24057,BAF82939,AAQ89163,AAI37312,AAI37313,Q6UWF9 Hs.55200 protein-coding 1603824 UNQ2541 MSFL2541 12975309,12477932 389812 NM_203347,AL355987,AY358618,BC035124,BC093893,BC093895 NP_976222,CAM14252,AAQ88981,AAH35124,AAH93893,AAH93895,Q49AN5,Q6UWW0 Hs.413902 RP11-216L13.5 protein-coding 1606085 UNQ830 ASCL830 12975309,12477932 389084 NM_206895,AC016692,CH471063,AY358535,BC035093,BC049848,BC130307,BC130309 NP_996778,EAW71021,EAW71022,EAW71023,AAQ88899,AAI30308,AAI30310,Q6UX34 Hs.657509 MGC163179|MGC163181 protein-coding 1603165 UNQ9391 tryptophan/serine protease 12975309,12477932 203074 NM_198464,AC104964,CH471157,AY358867,BC033497,BC064412 NP_940866,EAW65590,AAQ89226,AAH64412,Q6P2N5,Q6UWB4 Hs.591394 protein-coding 1602627 UNQ9438 TIMM9 12975309 387990 NM_207377,AL139021,CH471061,AY358266,BC137557,BC137563 NP_997260,EAW80733,EAW80734,AAQ88633,AAI37558,AAI37564,Q6UXN7 Hs.592307 protein-coding 1343488 UOX urate oxidase (pseudogene) 11961098,11700027,1556746,1395718 391051 NR_003927,AB074093,AB074326,AL359273,S94095,AI208826 Hs.647646 GDB:127539 UOXP|URICASE pseudo 734439 UPB1 ureidopropionase, beta This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. 1624989,1300048,1580863 10542323,18216719,18075467,17065070,15461802,15385443,14702039,12477932,11508704,3931905 1624989 51733 NM_016327,AF169559,AP000355,CH471095,AB013885,AF163312,AK024277,BC033388,BC131703,BC139843,BX537493,CR456375,CR627429 NP_057411,AAF06739,EAW59662,EAW59663,EAW59664,BAA88634,AAF06735,AAI31704,AAI39844,CAI46015,CAG30261,CAH10516,Q5HYN3,Q6AHZ8,Q9UBR1,AAI39841,CAK54511,CAK54810 Hs.474388 GDB:11508841 BUP1 protein-coding 1313946 UPF1 UPF1 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. 1580863 12554878,10999600,16488880,9064659,9620853,11544179,8855285,18423202,18369187,18362360,18066079,17803942,17456004,17159905,16931876,16861888,16452507,16186820,16086026,15680326,15489334,15231747,15106121,15057824,14636577,14527413,12723973,12477932,12417715,12228722,12000843,11546874,11331269,11163187,11113196,11073994,10454541,9039502,6200476,15721257,15175154 5976 AC003972,AC004517,CH471106,AF074016,AK125797,AK128727,BC034291,BC039817,BQ950083,CB960545,NM_002911,CR597098,CR614589,D86988,U59323,U65533 NP_002902,AAB94785,AAC09016,EAW84738,EAW84739,EAW84740,EAW84741,EAW84742,AAC26788,BAC86297,AAH39817,BAA19664,AAC51140,AAC50771,O60385,Q6ZUC8,Q92900 Hs.515266 GDB:5875365 FLJ43809|FLJ46894|HUPF1|KIAA0221|NORF1|RENT1|pNORF1 regulator of nonsense transcripts 1 protein-coding 1319373 UPF2 UPF2 regulator of nonsense transcripts homolog (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. 15231747,16488880,14636577,18066079,17803942,17456004,16449641,16209946,16186820,15489334,15361857,15004547,14702039,14574404,14527413,12723973,12718880,12554878,12477932,12417715,12093754,11546874,11544179,11163187,11113196,11073994,10718198,9933612,15680326 26019 NM_015542,NM_080599,AC073160,AL138898,AL645617,CH471072,AB037829,AF301013,AF318574,AK000764,AK074375,AK096191,AL080198,AW444636,AY013249,BC090919,BC114964,BC115737 NP_056357,NP_542166,CAH73458,CAH73459,CAI16755,CAI16756,EAW86328,EAW86329,EAW86330,EAW86331,EAW86332,EAW86333,BAA92646,AAG33225,AAG60689,BAA91369,BAB85064,BAC04721,CAB45771,AAG48509,AAH90919,AAI14965,AAI15738,Q5BKV2,Q8TE88,Q9HAU5 Hs.370689,Hs.610110 DKFZP434D222|HUPF2|KIAA1408|MGC138834|MGC138835|RENT2|smg-3 protein-coding 1318748 UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Two splice variants encoding different isoforms have been found for this gene. 1580863 11163187,14636577,16601204,15231747,15004547,14702039,12477932,12417715,11546873,11544179,11113196 65110 Q9H1J1 AK001069,AK097027,AY013250,BC008694,NM_023011,NM_080687,AL160396,CH471085,AF318575,BC023569,BC047735,CR602718 EAX09248,EAX09249,AAG60690,AAG48510,AAH08694,NP_075387,NP_542418,CAI15816,EAX09247,EAX09250,EAX09251,EAX09252,AAH23569,Q9H1J1 Hs.533855 HUPF3A|RENT3A|UPF3 protein-coding 1346078 UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different isoforms have been found for this gene. 1580863 11163187,15231747,12226669,18066079,17704778,17194930,16601204,16209946,15635413,15004547,14702039,14527413,12723973,12718880,12554878,12477932,12417715,12093754,11546874,11546873,11113196,9933612,8012384,15680326 65109 NM_023010,NM_080632,AC002477,CH471161,Z55204,Z59665,AF318576,AK093728,AY013251,BC008494,BC121017,BC121018,BI549935,CR591923 NP_075386,NP_542199,EAW89842,EAW89843,EAW89844,EAW89845,EAW89846,AAG60691,AAG48511,AAI21018,AAI21019,Q0VAK7,Q9BZI7 Hs.103832 HUPF3B|MRXS14|RENT3B|UPF3X protein-coding 1320413 UPK1A uroplakin 1A The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. 1580863 10514386,15088894,15913809,15489334,15200408,15057824,12477932,12475947,12036448,11739647,10404304,9846985,8530366,8138569 11045 AC002115,AC002314,AF085807,BC107097,BC107098,NM_007000 O00322,Q96I54,NP_008931,AAB57631,AAB62736,AAC34887,AAI07098,AAI07099 Hs.159309 GDB:9956288 MGC129751|MGC129752|MGC14388|TSPAN21|UP1A|UPIA|UPKA protein-coding 1317213 UPK1B uroplakin 1B The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. 1580863 9935153,10514386,9818021,15489334,15140401,12477932,12475947,12031497,11739647,9846985,9373149,9073521,8530366,8125298,12446744 7348 NM_006952,AC083800,AF067147,AF324865,CH471052,AB002155,AB015234,AF042331,AF082888,AK225868,AL709739,BC012851,BC063568,CR457084,CR598921,CR624397 NP_008883,AAC17446,EAW79577,BAA88878,BAA33724,AAC77794,AAD09401,AAH63568,CAG33365,O75841,Q6IAS0 Hs.271580 GDB:133770 TSPAN20|UPIB|UPK1 protein-coding 1353269 UPK2 uroplakin 2 The asymmetric unit membrane (AUM) forms the apical plaques of mammalian urothelium and is believed to strengthen the urothelial apical surface and prevent the cells from rupturing during bladder distention. The major conserved integral membrane proteins of the AUM are UPK1A (MIM 611557), UPK1B (MIM 602380), UPK2, and UPK3 (UPK3A; MIM 611559).[supplied by OMIM] 1580863 8175808,17012268,16116969,15489334,12792753,12477932,12475947,10458411,10404304,9846985,7507484,10514386,9515818 7379 NM_006760,AB078607,AP004609,EF445028,AB009454,AF000562,AY455312,BC113900,Y13645 NP_006751,BAB84089,ACA06070,BAA23884,AAB58416,AAR19396,AAI13901,CAA73996,O00526,Q9UEE8 Hs.379613 GDB:133771 MGC138598|UP2|UPII protein-coding 1321651 UPK3A uroplakin 3A Uroplakins (UPK) are integral membrane proteins that form 2-dimensional crystalline arrays termed urothelial plaques that cover more than 90% of the apical urothelial surface. The asymmetric unit membrane (AUM) forms the apical plaques of urothelium and is believed to strengthen the urothelial apical surface and prevent the cells from rupturing during bladder distention. The 4 major conserved integral membrane proteins of the AUM are UPK1A (MIM 611557), UPK1B (MIM 602380), UPK2 (MIM 611558), and UPK3A.[supplied by OMIM] 1580863 10514386,17880289,17698128,16731295,15489334,15461802,14713856,14654529,12477932,12475947,12474225,9846985,9818021,8889548,8270634 7380 NM_006953,AL008718,CH471138,AB010116,AB010637,AF085808,BC069544,BC108900,BM727658,CR456608 NP_008884,CAI17948,CAQ08673,EAW73377,BAA25678,BAA31460,AAC34888,AAH69544,AAI08901,CAG30494,O75631,CAK54635,CAK54934 Hs.632787 MGC119178|UPIII|UPIIIA|UPK3 protein-coding 1320049 UPK3B uroplakin 3B UPK3B is a minor component of the apical plaques of mammalian urothelium that binds and dimerizes with uroplakin-1b (UPK1B; MIM 602380), one of the major conserved urothelium membrane proteins. The other major conserved integral membrane proteins of urothelial plaques are UPK1A (MIM 611557), UPK2 (MIM 611558), and UPK3A (MIM 611559) (Deng et al., 2002 [PubMed 12446744]).[supplied by OMIM] 16354592,15489334,14702039,12853948,12477932,12446744 80761 NM_030570,NM_182684,AC004980,AC007078,AK056760,AK290096,AY233462,BC004304,BM921749,BQ689127,BU150542 NP_085047,NP_872625,AAS07526,BAF82785,AAO89507,AAH04304,Q75MM5,Q9BT76 Hs.488861 FLJ32198|MGC10902|P35|UPIIIb protein-coding 1313669 UPP1 uridine phosphorylase 1 7488099,16798057,15489334,14702039,12477932,12115385,12084455,11807789,11278417,752472 7378 NM_181597,NM_003364,AC122132,CH236955,CH236958,CH471128,AK096167,BC001405,BC007348,BC047030,BC053592,BE622095,BM544854,BT006699,BU528636,CR625754,X90858 NP_853628,NP_003355,EAW60993,EAW60994,EAW60995,EAW60996,AAH01405,AAH07348,AAH47030,AAH53592,AAP35345,CAA62369,CAA62370,Q16831,Q86Y75 Hs.488240 UDRPASE|UP|UPASE|UPP protein-coding 1317821 UPP2 uridine phosphorylase 2 1580863 15489334,14702039,12477932,11278417,12849978,15815621 151531 O95045 NM_173355,AC005539,CH471058,AK122743,AY225131,BC033529 NP_775491,AAD12227,EAX11437,AAO61681,AAH33529,O95045 Hs.128427 UDRPASE2|UP2|UPASE2 protein-coding 1605870 UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 17384901,16189514,15772651,15489334,14702039,12477932 139596 NM_145052,AL137013,AL590234,CH471104,AK056354,AK293024,BC015116,CR593454,CR604982,CR749336 NP_659489,CAI40088,CAI40089,CAI39681,CAI39682,EAW98630,EAW98631,BAB71161,BAF85713,AAH15116,CAH18190,Q96BW1 Hs.91612 DKFZp781E1243|FUR1|MGC23937|RP11-311P8.3 protein-coding 1345532 UQCC ubiquinol-cytochrome c reductase complex chaperone, CBP3 homolog (yeast) 18193045,16381901,15489336,15489334,14702039,12878157,12477932,11780052,11118897,11076863,9373149,8125298 55245 NM_018244,NM_199487,AL121752,AL389874,CH471077,AF173893,AK001712,AK022650,AK022742,AK093804,AK128252,AK225281,AK225557,AL122112,AU280736,AY050659,AY050660,BC008871,BC105791,BC119013,BC122862,BM919736,BX537568,CR619718 NP_060714,NP_955781,CAI21452,CAI21453,CAI21454,CAI15738,CAI15740,CAI15742,CAI15743,EAW76210,EAW76211,EAW76212,EAW76213,EAW76214,EAW76215,EAW76216,EAW76217,AAQ13640,BAA91854,BAB14156,BAB14217,CAI21449,AAL13118,AAL13119,AAI05792,AAI19014,AAI22863,CAD97785,Q3KRB6,Q5T347,Q5T349,Q7Z2S6,Q7Z3P9,Q9NVA1,CAL37762,CAL38728 Hs.18128 GDB:11504993 BFZB|C20orf44|CBP3|MGC104353|MGC141902 protein-coding 1348323 UQCR ubiquinol-cytochrome c reductase, 6.4kDa subunit 737633,1580863 9161705,15489334,15057824,12477932 737633 10975 NM_006830,AC005321,AC005943,CH471139,BC000462,BC003594,CR593271,CR601738,CR605036,CR605565,D55636 NP_006821,AAC27374,AAC72105,EAW69474,EAW69475,EAW69476,AAH00462,AAH03594,BAA21748,O14957,ABM83117,ABM86313 Hs.8372 0710008D09Rik|QCR10 protein-coding 1323703 UQCRB ubiquinol-cytochrome c reductase binding protein This gene encodes a protein which is part of the ubiquinol-cytochrome c oxidoreductase complex which contains ten nuclear-encoded and one mitochondrial-encoded subunits. The encoded protein binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. Mutations in this gene are associated with mitochondrial complex III deficiency. A pseudogene has been described on the X chromosome. 1599707,1580863,1300048 3056408,16189514,15489334,12709789,12477932,8751380,2981208,2543413,2167087,2159470 1599707 7381 AP003465,CH471060,M26701,M26730,M37387,AK307085,AK311756,AV747179,BC005230,BC041005,CR542176,CR542196,NM_006294,M22348,M26700,X13585 NP_006285,EAW91749,AAA60237,AAA60235,AAA60361,BAG34699,AAH05230,AAH41005,CAG46973,CAG46993,AAA60238,AAA60236,CAA31926,P14927,Q49AB7,Q6FGD1 Hs.131255 GDB:128092 FLJ92016|FLJ97033|QCR7|QP-C|QPC|UQBC|UQBP|UQPC protein-coding 1350764 UQCRBP1 ubiquinol-cytochrome c reductase binding protein pseudogene 1 2543413 7382 GDB:136257 1354116 UQCRBP2 ubiquinol-cytochrome c reductase binding protein pseudogene 2 2543413 7383 GDB:141990 1342599 UQCRC1 ubiquinol-cytochrome c reductase core protein I 1331810,1580863 17353931,8407948,16775426,15489334,12477932,12067236,10453733,8889549,15242332,8313870,8069229,7981668,7951059,6251869,1846623,16189514,15544925 1331810 7384 CR608620,CR609006,CR612327,CR612544,CR613607,CR615622,CR615936,CR618343,CR619930,CR620730,CR622799,CR622944,CR623388,CR624194,CR624214,CR624684,CR625097,D26485,L16842,NG_007065,NM_003365,AC121252,CH471055,AA284910,AK129903,BC009586,CR590742,CR592787,CR592960,CR594146,CR596628,CR596900,CR597511,CR597640,CR601503,CR601929,CR603058,CR604374 BAA05495,AAA20046,P31930,NP_003356,EAW64898,AAH09586 Hs.119251 GDB:141850 D3S3191|QCR1|UQCR1 protein-coding 1352193 UQCRC2 ubiquinol-cytochrome c reductase core protein II 1580863 17353931,8288258,15489334,14702039,12477932,12067236,2547763,2162168,16189514,15544925 7385 CR626286,CR626658,J04973,NM_003366,AC092119,CH471249,AK093106,AK094006,BC000484,BC003136,CR590090,CR591635,CR592149,CR594957,CR595039,CR598053,CR603517,CR603847,CR604978,CR605702,CR606175,CR607389,CR609670,CR610739,CR611095,CR612237,CR616588,CR617468,CR617817,CR620233,CR622835,CR626107,CR626134,CR626219 AAA35710,P22695,ABM82316,ABM85491,NP_003357,EAW50590,EAW50591,EAW50592,AAH00484,AAH03136 Hs.592048 GDB:141851 QCR2|UQCR2 protein-coding 1350936 UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 1580863 15489334,15057824,15047214,12821338,12477932,9150947,8088805,7721092,2999105,2158323 7386 NM_006003,AC007786,L32917,L32977,AK000225,AK291134,BC000649,BC010035,BC067832,BF210184,BF979273,CR592326,CR594419,CR601299 NP_005994,AAD38242,AAC41754,BAF83823,AAH00649,AAH10035,AAH67832,P47985,ABM82767 Hs.170107 GDB:217069 RIP1|RIS1|RISP|UQCR5 protein-coding 1351451 UQCRFSL1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide-like 1 8088805 7387 Z82206 CAI42711,Q5H9F8 GDB:434108 protein-coding 1314343 UQCRH ubiquinol-cytochrome c reductase hinge protein 1580863,1300048 2826252,17081983,16710414,15489334,12881716,12477932,7821789,7684318,15544925 7388 NM_006004,AL122001,CH471059,S61826,BC001426,BC001934,BC015177,BC093060,BC107703,BT007070,CR601608,CR608037,CR614090,CR625946,D28439,M36647,Y00764 NP_005995,CAI21963,EAX06922,EAX06923,EAX06924,EAX06925,EAX06926,AAD13930,AAH01426,AAH01934,AAH15177,AAH93060,AAI07704,AAP35733,BAA05805,AAA36317,CAA68733,P07919,Q567R0 Hs.481571 GDB:141852 MGC111572|QCR6 protein-coding 1344821 UQCRHP1 ubiquinol-cytochrome c reductase hinge protein pseudogene 1 404025 1604364 UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. 15544925,15489334,12477932,8592474,2164842 27089 CH471062,AW327741,BC001390,BC064949,BC090048,BG678118,BU190580,BU953465,CR743513,NM_014402 NP_055217,EAW62308,AAH01390,AAH90048,O14949 Hs.146602 QCR8|QP-C protein-coding 1353651 URB1 URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 12429849,17081983,15226434,14637006,12168954,10773462,9628581 9875 AF231919,AB011111,AF432264 AAF72943,BAA25465,AAL28110,O60287 Hs.473611 GDB:9958336 C21orf108|KIAA0539|NPA1 protein-coding 1604342 URG4 up-regulated gene 4 URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM] 17217616,16730941,16344560,15302935,15203218,12477932,12082552,10819331 55665 BG722670,BX640797,BX648505,CD628752,CR749398,DA240479,DA316326,DR421788,BC018426,NM_001077664,NM_017920,NM_001077663,AC004985,CH236951,CH471073,AB040940,AK000661,AK026185,AL832134,AL833744,AY078404 AAH18426,CAE45880,CAH18244,ABM82000,ABM85183,NP_001071132,NP_060390,NP_001071131,EAW94174,EAW94175,EAW94176,BAA96031,BAA91312,CAH56246,AAL83710 Hs.709317 DKFZp666G166|DKFZp686O0457 protein-coding 1315307 URM1 ubiquitin related modifier 1 homolog (S. cerevisiae) 737633 16864801,16046629,15489334,15164053,14702039,12477932 737633 81605 AK001880,AK097029,BC003581,BC011620,CR592013,CR593450,CR594010,CR594474,CR599226,CR604331,CR609073,CR609902,CR625852,D83200,CH471090,NM_030914,AL359091 EAW87786,AAH03581,Q5T4B4,Q9BTM9,CAI13492,CAI13493,EAW87782,EAW87783,EAW87784,EAW87785,NP_112176,CAI13491 Hs.495229 C9orf74|MGC2668|RP11-339B21.4 chromosome 9 open reading frame 74 protein-coding 1347314 UROC1 urocanase domain containing 1 15489334,15221005,14702039,12477932 131669 NM_144639,AC024558,CH471052,AB075869,AK055862,BC115405,BC115406 NP_653240,EAW79360,BAD38651,BAB71032,AAI15406,AAI15407,Q68CJ7,Q96N76 Hs.331148 FLJ31300|HMFN0320|MGC135007|MGC135008 protein-coding 1351123 UROD uroporphyrinogen decarboxylase This gene encodes the fifth enzyme of the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria. 1599713,1580863,1578396 2243121,1905636,661926,16189514,12071824,1634232,17627795,16710414,16390615,15491440,15489334,15186324,15046048,12477932,11719352,11295834,11069625,10477430,10338097,9806541,9792863,9564029,9373149,8896428,8644733,8176248,8125298,7706766,3775362,3658695,3460962,3015909,2920211 1599713 7389 AF104439,AF104440,AK225053,AK291877,BC001778,BM554255,BT006737,BX647308,CR456976,CR542057,CR595045,CR595230,CR599631,CR600525,CR612288,CR616226,CR619530,M14016,NM_000374,NG_007122,AF047383,AF103016,AF103017,AL359473,AY292986,CH471059,M60891,U30787,X89267,AF104421,AF104422,AF104423,AF104424,AF104425,AF104426,AF104427,AF104428,AF104429,AF104430,AF104431,AF104432,AF104433,AF104434,AF104435,AF104436,AF104437,AF104438 AAD04588,AAD04589,AAD04590,BAF84566,AAH01778,AAP35383,CAG33257,CAG46854,AAA61258,P06132,Q53YB8,Q53ZP6,Q5T450,Q71UD4,Q71UD5,ABM81614,ABM84796,NP_000365,AAC03563,AAD04167,AAD04168,CAI16439,CAI16440,CAI16441,AAP44118,EAX07007,EAX07008,AAB59456,AAC50482,CAA61540,AAD04571,AAD04572,AAD04573,AAD04574,AAD04575,AAD04576,AAD04577,AAD04578,AAD04579,AAD04580,AAD04581,AAD04582,AAD04583,AAD04584,AAD04585,AAD04586,AAD04587 Hs.78601 GDB:119628 PCT protein-coding 1321278 UROS uroporphyrinogen III synthase (congenital erythropoietic porphyria) The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). 1599715,1580863,1578396 2331520,18004775,17298225,16713569,15489334,15304101,15164054,12477932,12060141,11689424,11254675,11121156,11112350,9834209,9803266,9188670,8829650,8655129,7860775,7616657,7607680,3792391,3174619,2037278,1737856,1733834,16189514 1599715 7390 NM_000375,AF230664,AL360176,CH471066,AF230665,BC002573,BC004338,CR591021,CR600887,CR601670,CR607191,CR614085,DR156879,J03824 NP_000366,AAG36794,CAI12087,CAI12088,CAI12089,CAI12090,EAW49221,EAW49222,EAW49223,EAW49224,EAW49225,EAW49226,EAW49227,EAW49228,EAW49229,AAG36795,AAH02573,AAH04338,AAA60273,P10746,Q5T3L7,Q5T3L8,Q9BT54,ABM82862,ABM86049 Hs.501376 GDB:128112 protein-coding 1603634 USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae) 12761501,15029241,15272311,16354670,16381901,16344560,16189514,15489336,15489334,14702039,12477932,11076863 55850 NM_018467,AC020913,CH471106,AB097050,AF220052,AK074683,BC006005,BC008455,BF448659,BI758045,DA506853,T86451 NP_060937,EAW84574,EAW84575,EAW84576,BAC77403,AAF67645,BAC11136,AAH06005,AAH08455,Q0JS36,Q9NZ43,CAL38678,ABZ92350 Hs.16187 MDS032|P31|SLT1 protein-coding 733910 USF1 upstream transcription factor 1 This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Two transcript variants encoding distinct isoforms have been identified for this gene. 1580805 17353931,2249772,18303204,18276913,18167349,18097648,17885212,17765897,17673701,17574780,17379962,17309647,17065663,17016691,16943425,16936202,16870626,16699592,16531745,16386222,16381901,16288473,16225938,16199862,16186412,16132950,16076849,15985485,15976322,15959806,15864740,15767439,15489336,15489334,15358786,15242350,15187018,15175273,15111769,15054483,14991056,14644095,14573800,14514691,12970752,12923186,12917334,12851711,12791656,12684442,12663044,12477932,12444925,12403649,11948912,11945176,11230166,11076863,9537421,9384587,9160889,9053857,8576131,8486371,8306960,7774954,1961251,12611894,12857727 1580805 7391 NM_207005,AB017568,AL591806,AY593992,CH471121,AB098540,AL832119,BC035505,X55666,NM_007122 NP_009053,NP_996888,BAA76541,CAI15371,CAI15372,AAS89301,EAW52675,EAW52676,BAC78384,AAH35505,CAA39201,P22415,Q7Z5Y1,CAL37633,CAL38711 Hs.414880 GDB:136018 FCHL|FCHL1|HYPLIP1|MLTF|MLTFI|UEF protein-coding 734370 USF2 upstream transcription factor 2, c-fos interacting This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. Two transcript variants encoding distinct isoforms have been identified for this gene. 1580863 1589769,17353931,8954795,17379962,17081983,16870626,16386222,16199862,15864740,15767439,15741164,15489334,15276216,15242350,15187018,15057824,15042619,14502648,12970752,12917334,12857727,12791656,12663044,12611894,12477932,11948912,11945176,11583024,11058604,10434034,9110174,9108421,9099698,9070273,9053857,8619474,8576131,1450663 7392 NM_003367,NM_207291,AD000684,Y07661,AY007087,AY147880,BC042655,BC049821,CR536504,CR594001,CR600668,CR601198,CR609518,CR609877,CR612281,CR615182,M77476,S50537,X90824,X90825,X90826 NP_003358,NP_997174,AAB51179,CAA68942,AAN63092,AAH49821,CAG38742,AAB24368,CAA62339,CAA62340,CAA62341,Q15853,Q6YI47 Hs.454534 GDB:132844 FIP protein-coding 1353597 USH1A Usher syndrome 1A (autosomal recessive, severe) 7393 GDB:118885 1604645 USH1C Usher syndrome 1C (autosomal recessive, severe) 11311560,16464467,15219944,10973247,11398101,10209257,18484607,17407589,16713569,16301216,15660226,15578223,15489334,14759258,12665801,12588794,12485990,12477932,12407180,12136232,12107438,11810303,11139240,10973248,10508479,10500064,9760205,9653658,9610721,9373149,8125298,16189514 10083 NM_153676,NM_005709,AC124799,CH471064,AB006955,AB018687,AF039699,AF039700,AK024943,AK225614,AK290788,AL711953,BC016057,BK000147,CR623186 NP_710142,NP_005700,EAW68431,EAW68432,EAW68433,EAW68434,BAA81739,BAA81740,AAC18048,AAC18049,BAB15040,BAF83477,AAH16057,DAA00086,Q7RTU8,Q9H758,Q9Y6N9 Hs.502072 GDB:132544 AIE-75|DFNB18|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|ush1cpst protein-coding 1351921 USH1E Usher syndrome 1E (autosomal recessive, severe) 9002666 7396 GDB:5759584 1312053 USH1G Usher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). 1599547 12588794,11398101,18484607,17896313,16283141,15660226,15489334,14702039,12786748,12477932,11941484 1599547 124590 NM_173477,NG_007882,AC068874,CH471099,AK091243,AK289804,BC101096,BC101097,BC101098,BC101099 NP_775748,EAW89212,BAC03619,BAF82493,AAI01097,AAI01098,AAI01099,AAI01100,Q495M9 Hs.376688 GDB:11508136 ANKS4A|FLJ33924|SANS protein-coding 736503 USH2A Usher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described. 634438 16434480,14676276,15671307,10090909,12433396,18484607,18452394,18273898,17405132,17360538,17296898,17085681,17081983,16767206,16710414,16301217,16301216,16114888,16098008,15823922,15325563,15241801,15025721,14970843,12786748,12525556,12427073,12160733,12112664,11788194,11402400,11311042,10909849,10775529,10738000,10729113,9624053,276901,15015129 634438 7399 NM_206933,NM_007123,AC092799,AC093581,AC119429,AC138024,AF091889,AL139259,AL358452,AL358858,AL445650,AL513305,AF055580,AY481573 NP_996816,NP_009054,AAF75819,AAC23748,AAS47698,O75445 Hs.655974 GDB:120483 RP39|US2|USH2|USHERIN|dJ1111A8.1 protein-coding 1349709 USH2B Usher syndrome 2B (autosomal recessive, mild) 10234513,7901420 7400 GDB:451980 1346492 USH2C Usher syndrome 2C (autosomal recessive) 10745043 56830 GDB:10450614 1342890 USH3B Usher syndrome 3B 23662 GDB:10450508 1322004 USHBP1 Usher syndrome 1C binding protein 1 737633,1580863 11311560,16189514,16713569,15489334,14702039,12477932 737633 83878 NM_031941,AC010646,AC104522,CH471106,AB026290,AB040046,AK075162,AK096028,AK292031,BC027910,CR599813 NP_114147,EAW84581,EAW84582,EAW84583,BAB41203,BAB43978,BAC11443,BAC04680,BAF84720,AAH27910,Q8N6Y0,Q8N8Y1 Hs.512773 AIEBP|FLJ38709|FLJ90681|MCC2 protein-coding 1347198 USMG5 upregulated during skeletal muscle growth 5 homolog (mouse) 737633,1580863 16713569,16222733,15489334,15164054,12477932 737633 84833 BC091507,NM_032747,AL591408,CH471066,AJ272056,AL110185,AY740522,BC007087,BC072683 AAH72683,AAH91507,Q96IX5,NP_116136,EAW49642,EAW49643,EAW49644,CAC81243,AAU89079,AAH07087 Hs.500921 DKFZp566D211|HCVFTP2|MGC14697|bA792D24.4 upregulated during skeletal muscle growth 5 protein-coding 733099 USO1 USO1 homolog, vesicle docking protein (yeast) The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Transport from the ER to the cis/medial Golgi compartments requires the action of this gene product, GM130 and giantin in a sequential manner. 9786945,9628863,9150144,1512287,15718469,17353931,9478999,17274799,17081983,16381901,16256943,16189514,15979508,15489336,15489334,14736916,14702039,12634853,12507498,12477932,12438416,12401177,12077354,11927603,11396975,11230166,11076863,11035033,10931861,10903204 8615 NM_003715,AC104828,AC110615,CH471057,AK002093,AL832010,AL833753,BC006398,BC016672,BC032654,D86326 NP_003706,EAX05749,EAX05750,EAX05751,CAD89917,AAH06398,AAH32654,BAA25300,O60763,Q0JSZ8,Q86TB8,CAL37824,CAL38366,ABM84992,ABW03646 Hs.292689 P115|TAP|VDP vesicle docking protein, 115 kda protein-coding 1315093 USP1 ubiquitin specific peptidase 1 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. 1580863 9827704,16381901,15694335,15489336,15489334,14702039,12838346,12477932,11256614,11230166,11076863,9806842,8889548 7398 NM_001017415,NM_001017416,NM_003368,AC096946,CH471059,AB014458,AB208893,AF117386,AK096788,AL117503,AL117575,AL599240,BC011881,BC018745,BC023216,BC032364,BC040140,BC050525,BI463072,BQ018843,BQ186837,CR593195 NP_001017415,NP_001017416,NP_003359,EAX06585,EAX06586,BAA34703,BAD92130,AAD11441,CAB55967,CAB55999,AAH18745,AAH32364,AAH50525,O94782,Q0JV26,CAL37634 Hs.35086 GDB:9848887 UBP ubiquitin specific protease 1 protein-coding 1352341 USP10 ubiquitin specific peptidase 10 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. 1580863 17081983,17004105,16964243,16773218,16368182,16344560,15489334,15302935,15252450,14702039,12838346,12477932,11439350,9827704,8724849,16189514 9100 NM_005153,AC009116,AC025280,CH471114,AK055375,AL162049,BC000263,BC064516,BX537402,CR617738,CR626589,CR749515,D80012,DB077919 NP_005144,EAW95470,EAW95471,CAB82392,AAH00263,AAH64516,CAD97644,CAH18330,BAA11507,Q14694,Q68D90,Q6P2I0,ABM83479,ABM86690 Hs.136778 GDB:9785107 KIAA0190|MGC2621|UBPO ubiquitin specific protease 10 protein-coding 1348071 USP10P1 ubiquitin specific peptidase 10 pseudogene 1 780779 NG_005813,AL512310 ubiquitin specific protease 10 pseudogene 1 pseudo 1604853 USP10P2 ubiquitin specific peptidase10 pseudogene 2 780778 NG_005812,CR383656 pseudo 1347156 USP11 ubiquitin specific peptidase 11 Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 1580863 9827704,17897950,15772651,15489334,15314155,14743216,14702039,12838346,12532266,12477932,12084015,11944989,9931462,9801870,8845848,17353931 8237 NM_004651,AL096791,CH471164,AB073597,AK055588,AK098394,BC000350,BC063668,BC073960,BC140849,BQ022385,CR604528,CR606453,U44839 NP_004642,CAD20056,CAI42996,EAW59288,EAW59289,BAC20463,AAH00350,AAH63668,AAI40850,AAC50450,P51784,Q5JXD3,Q6P453 Hs.171501 GDB:9954633 UHX1 ubiquitin specific protease 11 protein-coding 1317587 USP12 ubiquitin specific peptidase 12 1580863 9615226,15489334,15057823,12838346,12477932 219333 CH471075,AF022789,AK289685,AL049221,BC026072,NM_182488,AL158062,AL355473 EAX08392,EAX08393,AAC23551,BAF82374,AAH26072,O75317,ABM85000,NP_872294 Hs.42400 GDB:6916291 USP12L1 ubiquitin specific protease 12 protein-coding 1346185 USP12P1 ubiquitin specific peptidase 12 pseudogene 1 12838346,9615226 9959 NG_002822,AC010306,AC091980,AF022790 UBH1|USP12 ubiquitin specific protease 12 pseudogene 1 pseudo 1351911 USP12P2 ubiquitin specific peptidase 12 pseudogene 2 254700 NG_002823,AL121877 pseudo 1343926 USP12P3 ubiquitin specific peptidase 12 pseudogene 3 12815422,9847074 359799 NG_002824,AC024038 ubiquitin specific protease 12 pseudogene 3 pseudo 1314436 USP13 ubiquitin specific peptidase 13 (isopeptidase T-3) 1580863 15489336,15231748,12838346,12477932,11927605,11076863,9841226,9827704,16381901,16169070 8975 NM_003940,AC007687,AC125604,CH471052,AK290338,BC016146,CR623689,U75362 NP_003931,EAW78383,EAW78384,BAF83027,AAH16146,AAC63405,Q0JS59,Q0JSM8,Q0JT94,Q0JTG9,Q92995,Q96B25,CAL38193,CAL38270,CAL38486,CAL38655,ABM83398,ABM86610 Hs.591319 GDB:9957994 ISOT3|IsoT-3 protein-coding 1323483 USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9827704,8579355,17079671,16465409,16211010,15489334,14962675,14702039,12838346,12477932,14499622 9097 CR597157,CR604259,CR617599,CR976282,U30888,CA438203,NM_005151,NM_001037334,AP000845,CH471113,AK095516,AK098497,BC003556,BG717018,BT007183,BU161860 AAB60365,P54578,Q53XY5,ABM92211,ABM84688,NP_005142,NP_001032411,EAX01735,EAX01736,EAX01737,EAX01738,AAH03556,AAP35847 Hs.464416,Hs.707058 GDB:9954863 TGT protein-coding 733296 USP15 ubiquitin specific peptidase 15 Ubiquitin (MIM 191339), a highly conserved protein involved in the regulation of intracellular protein breakdown, cell cycle regulation, and stress response, is released from degraded proteins by disassembly of the polyubiquitin chains. The disassembly process is mediated by ubiquitin-specific proteases (USPs). Also see USP1 (MIM 603478).[supplied by OMIM] 1580863 9827704,17353931,16964243,16298993,16005295,15494318,14702039,12838346,12532266,12477932,12168954,10444327,9628581 9958 NM_006313,AC048342,AC079035,AC117370,CH471054,AB011101,AF013990,AF106069,AF153604,AK023703,BC020688,BC063454,BC110908,BC125123,CR600092 NP_006304,EAW97104,EAW97105,EAW97106,BAA25455,AAG28973,AAD52099,AAD41086,BAB14648,AAH20688,AAH63454,AAI10909,AAI25124,Q08AL5,Q2NL66,Q9H8G9,Q9Y4E8 Hs.434951 GDB:9958523 KIAA0529|MGC131982|MGC149838|MGC74854|UNPH4 ubiquitin specific protease 15 protein-coding 1316236 USP16 ubiquitin specific peptidase 16 This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9827704,10077596,17914355,17512543,15489334,15302935,15231747,14702039,12838346,12477932,12107411,10830953,9373149,8125298,16189514 10600 NM_006447,NM_001001992,AF129075,AL163249,CH471079,AF113219,AF126736,AK023247,AK025104,AK025989,AK090776,AK222681,AK222884,AY333928,NM_001032410,BQ637016,CB960929,CR618560,W57837,BC010375,BC030777 NP_001027582,NP_006438,NP_001001992,CAB90432,EAX09927,EAX09928,EAX09929,AAG39290,AAD20949,BAD96401,BAD96604,Q53GP7,Q53HA0,Q5VKN8,Q9H3E6,Q9Y5T5,ABM83321,ABM86536,AAR13293,AAH30777 Hs.99819 GDB:9957973 UBP-M ubiquitin specific protease 16 protein-coding 1349777 USP17 ubiquitin specific peptidase 17 12838346,11941478,10936051,9806828,9192848 391627 NM_001105662,AC116655,D38378 NP_001099132 Hs.631527 GDB:10794767 RS447 protein-coding 1353279 USP18 ubiquitin specific peptidase 18 USP18, a member of the deubiquitinating protease family of enzymes, removes ubiquitin adducts from a broad range of protein substrates.[supplied by OMIM] 1549873,1580863 10777664,17374743,16381901,15489336,15489334,15342634,12838346,12477932,11788588,11313150,11230166,11076863,10722734,16189514 1549873 11274 NM_017414,AC008079,CH471193,AF176642,AI222587,AJ243526,AL136690,BC014896,BI752849,BT006835,BU584005,CR457216,CR604420,CT841507 NP_059110,EAW57790,EAW57791,AAD49967,CAB76398,CAB66625,AAH14896,AAP35481,CAG33497,CAJ86437,Q0JT91,Q53Y90,Q6IAD9,Q9UMW8,CAL38273,CAK54503,CAK54802 Hs.38260 GDB:9957617 ISG43|UBP43 ubiquitin specific protease 18 protein-coding 1344113 USP19 ubiquitin specific peptidase 19 1580863 15302935,12838346,12477932,10048485 10869 AC135506,CH471055,AB020698,BC014934,BC048269,BC065909,BC082241,BC106029,BC128088,BC142660,BC142727,BC146752,EF036501,NM_006677 ABO65087,O94966,NP_006668,EAW64955,EAW64956,EAW64957,BAA74914,AAH48269,AAH65909,AAH82241,AAI06030,AAI42661,AAI42728,AAI46753 Hs.255596 GDB:9958427 ZMYND9 ubiquitin specific protease 19 protein-coding 731337 USP2 ubiquitin specific peptidase 2 Ubiquitin (MIM 191339), a highly conserved protein involved in the regulation of intracellular protein breakdown, cell cycle regulation, and stress response, is released from degraded proteins by disassembly of the polyubiquitin chains. The disassembly process is mediated by ubiquitin-specific proteases (USPs). Also see USP1 (MIM 603478).[supplied by OMIM] 1580863 9827704,16189514,17502873,17290220,16344560,15489334,15050917,14743216,14702039,12838346,12566314,12477932,9325273 9099 NM_004205,NM_171997,AP003396,CH471065,EF445044,AF079564,AF440755,AI806430,AK057225,AK292255,BC002854,BC002955,BC041366,DB065104,DB098786 NP_004196,NP_741994,EAW67484,EAW67485,EAW67486,ACA06096,AAC28392,AAN65363,BAB71388,BAF84944,AAH02854,AAH02955,AAH41366,O75604,Q8IUM2,Q8IW04,ABM83458,ABM86669 Hs.524085 GDB:9954866 UBP41|USP9 protein-coding 1313758 USP20 ubiquitin specific peptidase 20 1580863 17081983,16344560,15776016,15342556,15164053,12865408,12838346,12477932,12056827,10369878,10231032 10868 NM_006676,NM_001008563,NM_001110303,AL158207,CH471090,Y17457,Y17458,Y17459,AB023220,AY074877,BC033669,BC039593,BF727180,BP246486,BQ882312,BX462233,CR589994,DA791069 Q9UQN9,Q9Y2K6,NP_006667,NP_001008563,NP_001103773,CAC88170,EAW87911,EAW87912,EAW87913,EAW87914,EAW87915,CAB44350,CAB44351,CAB44352,BAA76847,AAL79676,AAH39593,Q541F1,Q8IXQ1 Hs.5452 GDB:9958426 KIAA1003|LSFR3A|VDU2 protein-coding 1349681 USP21 ubiquitin specific peptidase 21 This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants have been described. 1580863 15231747,10786635,15489334,12477932,10799498,8889549 27005 NM_001014443,NM_012475,AL590714,CH471121,AB208899,AF177758,AF217979,AF233442,AI038040,AK292319,AL157417,BC003130,BC090946,BI463191,BI755746,BM742944,N76159,T77123 NP_001014443,NP_036607,CAH72142,CAH72143,EAW52642,EAW52643,EAW52644,EAW52645,BAD92136,AAD54321,AAG17222,AAF61308,BAF85008,CAB75649,AAH03130,AAH90946,Q59H60,Q5BKT5,Q5VTW9,Q5VTX0,Q9HBS2,Q9NSS9,Q9UK80 Hs.8015 GDB:10450252 MGC3394|USP16|USP23 ubiquitin specific protease 21 protein-coding 1321210 USP22 ubiquitin specific peptidase 22 1580863 18206973,16378762,18206972,15931389,12838346,12477932,11707075,10470851 23326 NM_015276,AC087393,AB028986,AK025331,AK130677,AL049258,AL110213,BC007196,BC013364,BC025317,BC050994,BC084550,BC110499,BC126898,BX640815,CR602078,CR602184,CR616800 NP_056091,BAA83015,AAH07196,AAH25317,AAI10500,AAI26899,CAE45893,Q2NLE2,Q6MZY4,Q8TBS8,Q96GI2,Q96IW5,Q9NSJ7,Q9UPT9 Hs.462492 GDB:9955910 KIAA1063|USP3L protein-coding 1315618 USP24 ubiquitin specific peptidase 24 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 1580863 17081983,16964243,16917932,15489334,15302935,15146197,15144186,14715245,14702039,12838346,12477932,11181995,10470851 23358 CH471059,AB028980,AK000321,AK055871,AK127075,AL832370,BC029660,AC091609,BU156226,BX953826,CN255594,NM_015306 EAX06657,EAX06658,EAX06659,BAA83009,BAA91084,BAC86814,AAH29660,Q9UPU5,NP_056121 Hs.477009 GDB:9955936 FLJ31309|KIAA1057 protein-coding 1319103 USP25 ubiquitin specific peptidase 25 Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM] 1580863 10644437,14702039,12838346,12477932,11597335,10830953,10612803 29761 AJ010597,AJ010598,CH471079,AF134213,AF170562,AK022447,AK022574,BC015930,BC075792,BI256537,BQ215557,CR600261,NM_013396 NP_037528,EAX10041,EAX10042,EAX10043,EAX10044,EAX10045,AAF24998,AAF32263,BAB14037,BAB14107,AAH15930,AAH75792,Q6DHZ9,Q96B65,Q9HA22,Q9UHP3 Hs.473370 GDB:9992789 USP21 protein-coding 1354275 USP26 ubiquitin specific peptidase 26 This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. 1580863 18377898,18062861,17968467,17121659,16888075,15970005,15772651,15562280,15489334,12838346,12477932,11279525 83844 NM_031907,CH471107,Z81365,AF285593,AK292527,BC069073,BC101189,BC101190,BC101191,BC101192 NP_114113,EAX11774,CAI43184,AAK31972,BAF85216,AAH69073,AAI01190,AAI01191,AAI01192,Q495F8,Q9BXU7 Hs.333137 GDB:11502472 MGC120066|MGC120067|MGC120068 ubiquitin specific protease 26 protein-coding 1350698 USP27X ubiquitin specific peptidase 27, X-linked 12838346,10737800 389856 XM_372213,XM_937860,XM_001714049,AF238380,AW851065,AY672104 XP_372213,XP_942953,XP_001714101,A6NNY8 Hs.675136 USP22L|USP27 protein-coding 1323075 USP28 ubiquitin specific peptidase 28 The ubiquitin-dependent protein degradation pathway is essential for proteolysis of intracellular proteins and peptides. Enzymes that remove ubiquitin from ubiquitin-conjugated peptides, like USP28, affect the fate and degradation of intracellular proteins and are essential for maintenance of cell-free ubiquitin pools (Valero et al., 2001).[supplied by OMIM] 1580863 12838346,17873522,17558397,16901786,14702039,12477932,11597335,10819331 57646 NM_020886,AP001874,AP003170,CH471065,AB040948,AF266283,AK027521,AK097623,BC035986,BC065928,BF434481,BU940680,CD704003 NP_065937,EAW67231,EAW67232,EAW67233,EAW67234,EAW67235,BAA96039,AAK58565,BAB55172,AAH65928,Q6NZX9,Q96RU2,Q96SV4 Hs.503891 GDB:10796461 KIAA1515 ubiquitin specific protease 28 protein-coding 1315382 USP29 ubiquitin specific peptidase 29 1580863 10958632,12838346,12477932,12032826 57663 NM_020903,AC025588,AF124433,AF229438,BC130394,BC130398 NP_065954,AAG10401,AAI30395,AAI30399,Q9HBJ7 Hs.515632 GDB:11502221 HOM-TES-84/86|MGC163266|MGC163270 ubiquitin specific protease 29 protein-coding 1318862 USP3 ubiquitin specific peptidase 3 1580863 17980597,14702039,12838346,12477932,10480896 9960 BX647760,NM_006537,AC007950,AC118274,CH471082,AF073344,AF077040,AI695842,AK022931,AY461579,BC018113,BC065300,BC100029,BC107137,BC107138,BT007269 ABM85131,AAP35933,Q498Y2,Q6JHV3,Q8WVD0,Q9Y2R8,Q9Y6I4,ABM81951,NP_006528,EAW77651,AAD42992,AAD27773,AAT37507,AAH18113,AAH65300,AAI00030,AAI07138,AAI07139 Hs.458499 GDB:9958525 MGC129878|MGC129879|SIH003|UBP ubiquitin specific protease 3 protein-coding 1317441 USP30 ubiquitin specific peptidase 30 15489334,15146197,14715245,14702039,12838346,12477932 84749 NM_032663,AC011596,CH471054,AA856774,AI867665,AJ586136,AK027820,AK097830,AL834278,BC004868,BC022094,BG149730,BX095894,CN367077 NP_116052,EAW97842,EAW97843,EAW97844,CAE51936,BAB55392,AAH04868,AAH22094,Q70CQ3,ABM84327,ABM87782 Hs.486434,Hs.660996 FLJ40511|MGC10702 ubiquitin specific protease 30 protein-coding 1317813 USP31 ubiquitin specific peptidase 31 16341674,16214042,15354349,14715245,14702039,12838346,10574462 57478 NM_020718,AC099482,AC127459,CH471145,AB033029,AJ586135,AK057491,AK092790,AK126447,AK126752,BM842261,BX648357 NP_065769,EAW55835,EAW55836,BAA86517,CAE51935,BAC86554,BAC86673,CAH10383,Q70CQ4,AAI56335 Hs.183817,Hs.708966 KIAA1203 ubiquitin specific protease 31 protein-coding 1315395 USP32 ubiquitin specific peptidase 32 17081983,14702039,12838346,12604796,12477932,10508479 84669 NM_032582,AC003962,AC025048,AC037475,AC104763,AY163319,CH471109,AF155116,AF350251,AF533230,AK057301,AK091680,BC054344,BC070497,BC094680,BI459907 NP_115971,AAO21353,EAW94356,EAW94357,EAW94358,AAD42882,AAK30207,AAM97922,AAH54344,AAH70497,AAH94680,Q4VC15,Q6IRT0,Q7Z5T3,Q86WP5,Q8NFA0,AAI56265 Hs.132868 NY-REN-60|USP10 ubiquitin specific protease 32 protein-coding 1317280 USP33 ubiquitin specific peptidase 33 11739384,17766394,15489334,14702039,12865408,12838346,12477932,12056827,10470851,9373149,8125298,16189514 23032 AB029020,AF383172,AF383173,AI569971,AK022864,AK023664,AK225499,AL050140,BC016663,BU631866,CR619326,NM_201624,NM_015017,NM_201626,AC114487,CH471059 EAX06368,EAX06369,EAX06370,EAX06371,BAA83049,AAL78314,AAL78315,BAB14279,CAB43288,AAH16663,Q8TEY7,Q9Y417,ABM82413,ABM85598,NP_963918,NP_055832,NP_963920,EAX06367 Hs.480597 KIAA1097|MGC16868|VDU1 ubiquitin specific protease 33 protein-coding 1318847 USP34 ubiquitin specific peptidase 34 15489334,15345747,14715245,14702039,12838346,12477932,12168954,9872452,9628581 9736 BC022783,BC062325,BC107761,BC141839,BX473680,NM_014709,AC016727,AC016747,AC016894,AC018889,CH471053,AB011142,AB018272,AJ586138,AK001193,AK022637,AK023171,AK023845,AK024341,AK124932,AK125898,AK126741,AL050092,AL050376,AL831918,AW293998 AAH22783,AAH62325,AAI07762,AAI41840,Q70CQ2,NP_055524,EAW99998,BAA25496,BAA34449,CAE51938,CAB43264,CAD38579 Hs.654807 FLJ43910|KIAA0570|KIAA0729|MGC104459 protein-coding 1353275 USP35 ubiquitin specific peptidase 35 1580863 15146197,14715245,14702039,12838346,12477932,10718198 57558 NM_020798,AP002985,CH471076,AB037793,AJ586137,AK056231,BU631962,CN287538,BC131489 NP_065849,EAW75056,BAA92610,CAE51937,AAI31490,Q9P2H5 Hs.531249 ubiquitin specific protease 35 protein-coding 1320548 USP36 ubiquitin specific peptidase 36 17081983,16565220,15809067,15635413,15254734,14715245,14702039,12838346,12477932,12429849,10819331,9373149,8125298 57602 NM_025090,AC022966,CH471099,AB040886,AK001671,AK022840,AK022913,AK225155,AK225426,AL833835,AY169386,BC013890,BC016487,BC027992,BC038983,BC071582 NP_079366,EAW89533,EAW89534,EAW89535,EAW89536,BAA95977,BAA91825,BAB14306,CAD38695,AAO34133,AAH16487,AAH27992,AAH38983,AAH71582,Q05C98,Q05DD0,Q9H9C5,Q9P275 Hs.464243 DUB1 ubiquitin specific protease 36 protein-coding 1315889 USP37 ubiquitin specific peptidase 37 11256614,17081983,16381901,16344560,15489336,15324660,14715245,14702039,12838346,12477932,11230166,11076863,10997877 57695 NM_020935,AC012510,AC073838,CH471063,AB046814,AK095577,AK128583,AL832645,BC037389,BC050461,BC112901,BC133007,BC133009,BX538024,DB075170 NP_065986,AAY14887,EAW70621,EAW70622,EAW70623,BAB13420,CAD89955,AAH50461,AAI12902,AAI33008,AAI33010,CAD97970,Q0JT70,Q0JUK4,Q2KHT2,Q53S10,Q7Z3A5,Q86T82,Q86W68,CAL37807,CAL38294 Hs.166068 KIAA1594|MGC117261 ubiquitin specific protease 37 protein-coding 1323709 USP38 ubiquitin specific peptidase 38 15489334,14715245,14702039,12838346,12477932,11572484,10931946 84640 NM_032557,AC099549,AC116175,CH471056,AB067478,AF211481,AK057992,AK091712,AK093289,AK093754,AK126943,AL833976,BC017668,BC039115,BC068975,CR619187 NP_115946,EAX05075,EAX05076,EAX05077,BAB67784,AAK26248,BAB71627,BAC03730,CAD38820,AAH39115,AAH68975,Q3ZCV1,Q8NB14 Hs.480848 FLJ35970|HP43.8KD|KIAA1891 ubiquitin specific protease 38 protein-coding 1317682 USP39 ubiquitin specific peptidase 39 17353931,10022888,17081983,15489334,14702039,12838346,12477932,11350945,10810093,9373149,8125298 10713 AC012454,CH471053,AF130096,AF132955,AF161450,AF353989,AK001047,AK001772,AK056334,AK129872,AK222852,AK289451,AL117416,BC001384,BC067273,BX462623,CR599389,NM_006590,CR616188 NP_006581,EAW99490,EAW99491,EAW99492,EAW99493,EAW99494,AAG35521,AAD27730,AAF29010,AAK49524,BAD96572,BAF82140,AAH01384,AAH67273,Q53GS9 Hs.654745 CGI-21|HSPC332|MGC75069|SAD1 ubiquitin specific protease 39 protein-coding 1347295 USP3L ubiquitin specific protease 3-like 79397 GDB:11508673 1344173 USP4 ubiquitin specific peptidase 4 (proto-oncogene) 1580863 9464533,9827704,8183569,16472766,16316627,15489334,12838346,12477932,11571652,11571651,11461834,9373149,8125298,7784062 7375 NM_199443,NM_003363,AC121247,CH471055,AF017305,AF017306,AK127055,AK222725,AK223292,AK291795,BC068017,BC125130,BC125131,BG717217,BU632996,CR594108,U20657 NP_955475,NP_003354,EAW64968,EAW64969,EAW64970,EAW64971,EAW64972,EAW64973,AAC27355,AAC27356,BAD96445,BAD97012,BAF84484,AAI25131,AAI25132,AAB72237,Q08AK7,Q13107,Q53FJ3,Q53H56 Hs.631919 GDB:9838013 MGC149848|MGC149849|UNP|Unph ubiquitin specific protease 4 (proto-oncogene) protein-coding 1320045 USP40 ubiquitin specific peptidase 40 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 1580863 16917932,15815621,15489334,14715245,14702039,12838346,12477932,12045112,11673459 55230 NM_018218,AC019072,AC019221,CH471063,AI375976,AJ583821,AK001647,AK124094,AL833371,BC013305,BC067300,BC086855,CR594906,CR624131 NP_060688,EAW71051,EAW71052,CAE47748,BAA91807,BAC85770,AAH67300,Q9NVE5,AAI56499 Hs.96513 FLJ10785|FLJ42100 protein-coding 1604943 USP41 ubiquitin specific peptidase 41 14715245,12838346 373856 XM_036729,XM_937988,XM_001718645,AC007731,AC011718,AJ583822,AJ586979 XP_036729,XP_943081,XP_001718697,CAE47749,CAE52971,Q3LFD5 Hs.658993 protein-coding 1313136 USP42 ubiquitin specific peptidase 42 1580863 17081983,15489334,15302935,14715245,14702039,12838346,12477932,8889548 84132 NM_032172,AC004895,CH236963,CH878731,AA936550,AJ601395,AK022759,AY618868,BC060846,BC132862,BF725643,BM980885,BM995466,BU187025,BU567897,DB457216,DR001777 NP_115548,EAL23715,EAL23716,EAW55047,EAW55048,CAE53097,BAB14232,AAT67238,AAH60846,AAI32863,Q0VIN8,Q9H9J4 Hs.31856 FLJ12697 ubiquitin specific protease 42 protein-coding 1317758 USP43 ubiquitin specific peptidase 43 1580863 16344560,14715245,14702039,12838346,12477932 124739 AK055188,AK090821,BC039653,BX648526,DA769847,NM_153210,AC027045,AC118755,AJ583817 BAB70869,BAC03523,Q70EL4,NP_694942,CAE47744 Hs.232270 FLJ30626 protein-coding 1317864 USP44 ubiquitin specific peptidase 44 Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP44 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM] 1580863 17443180,16381901,15489336,15489334,14715245,14702039,12838346,12477932,11230166,11076863,11256614 84101 NM_001042403,AC018475,CH471054,AK027434,AL136825,NM_032147,BC030704,DB462518 NP_115523,NP_001035862,EAW97540,EAW97541,EAW97542,CAB66759,AAH30704,Q0JVP1,Q9H0E7,CAL37419,ABM81771,ABM84925 Hs.646421 DKFZP434D0127|FLJ14528 ubiquitin specific protease 44 protein-coding 1322181 USP45 ubiquitin specific peptidase 45 1580863 15489334,14715245,14702039,14574404,12838346,12477932 85015 BC157838,CR593749,CR608058,CR614890,CR625622,NM_001080481,AL137784,AL513550,CH471051,AJ583819,AK123299,AL713747,AL832030,AL832037,AL832040,BC005991 AAI57839,Q5JPK1,Q5JV78,Q70EL2,AAI56219,NP_001073950,CAI19759,CAI19760,CAI19761,CAI17192,EAW48471,EAW48473,CAE47746,CAD89915,CAD91148,CAI46150,CAI46152,AAH05991 Hs.143410 MGC14793 ubiquitin specific protease 45 protein-coding 1344409 USP46 ubiquitin specific peptidase 46 15489334,14715245,14702039,12838346,12477932,9110174,8619474 64854 AF070557,AK021861,AK022614,AK024318,BC037574,NM_022832,AC026448,CH471057 EAX05434,EAX05435,BAB14133,BAB14881,AAH37574,P62068,ABM87763,ABW03598,NP_073743 Hs.331478 FLJ12552 protein-coding 1321301 USP47 ubiquitin specific peptidase 47 1580863 16964243,15489334,15302935,14715245,14702039,12838346,12477932,9373149,8125298,12584197,14576168,14638676 55031 AC104383,AC124276,CH471064,AF059318,AK000734,AK027362,AK074076,BC000226,AK092290,AK093714,AK127264,AK225358,AL832991,NM_017944,BC017795,BC030562,BC047044,BC071559,BG752249 NP_060414,EAW68542,EAW68543,EAW68544,AAG43115,BAA91348,BAB55063,AAH00226,BAB84902,CAH56337,AAH17795,AAH47044,Q68D97,Q96K76,Q9H3L7,AAI48588 Hs.577256 DKFZp686C13257|FLJ20727|TRFP ubiquitin specific protease 47 protein-coding 1351270 USP48 ubiquitin specific peptidase 48 This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 17081983,16710414,16214042,15489334,15354349,15342556,14715245,14702039,12838346,12477932,9409543 84196 AL590103,CH471134,AF502942,AI248244,AK000110,AK002190,AK021830,AK026707,BC067261,BC103724,BC104896,BM462540,BP238468,BQ027743,CA436959,CR619608,AK074247,AK226150,AL834375,BC007326,BC011576,BC013567,NM_032236,NM_001032730,AL359815 CAI12124,CAI12127,EAW94987,EAW94988,EAW94989,EAW94990,EAW94991,EAW94992,AAP30832,BAA90950,BAA92128,BAB15533,CAI16260,AAH13567,AAH67261,AAI03725,AAI04897,Q86UV5,CAD39038,AAH07326,AAH11576,NP_115612,NP_001027902 Hs.467524 DKFZp762M1713|MGC132556|MGC14879|RAP1GA1|USP31 ubiquitin specific protease 48 protein-coding 1601875 USP49 ubiquitin specific peptidase 49 15489334,14715245,14576168,12584197,12477932 25862 NM_018561,AL160163,AL365205,CH471081,AJ586139,BC014176 NP_061031,CAI13186,CAI13187,CAI13188,EAX04065,CAE51939,AAH14176,Q5T3D9,Q5T3E0,Q5T3E1,Q70CQ1 Hs.665742 MGC20741 protein-coding 1318206 USP5 ubiquitin specific peptidase 5 (isopeptidase T) 1580863 7578059,16189514,9827704,16964243,16564012,15489334,15231748,7498549,15146197,14718574,12838346,12477932,12435595,12427038,11771738,11337467,9074930,8723724,7851534 8078 NM_001098536,NM_003481,CH471116,U47924,AI289395,AU099996,BC004889,BC005139,CN276110,CR598459,CR620906,CR621700,U35116,U47927,X91349 NP_001092006,NP_003472,EAW88724,EAW88725,EAW88726,EAW88727,AAB51314,AAB51315,AAH04889,AAH05139,AAA78934,AAC50465,CAA62690,P45974,ABM83956,ABM87273 Hs.631661 GDB:9954492 ISOT ubiquitin specific protease 5 (isopeptidase t) protein-coding 1343119 USP50 ubiquitin specific peptidase 50 15060002,14715245,12838346 373509 NM_203494,AC012170,CH471082,AJ583818,BN000339,DB448810,DB451236,DB513975 NP_987090,EAW77403,CAE47745,CAE48395,Q70EL3,AAI40416,AAI46494 Hs.697079 protein-coding 1603172 USP51 ubiquitin specific peptidase 51 15772651,15489334,15060002,15028280,14715245,12838346,12477932,10737800 158880 NM_201286,AL590410,AJ583823,BC035907,BN000340,BU101641 NP_958443,CAE47750,AAH35907,CAE48396,Q70EK9 Hs.134289 protein-coding 1315332 USP53 ubiquitin specific peptidase 53 1334457 14715245,16344560,16189514,15851553,15489334,14702039,12477932,10718198 1334457 54532 NM_019050,AC092656,CH471229,AB037771,AF085848,AJ583824,AK022799,AK025233,AK025301,BC017382,BC062741,BQ019723,BX648339,CD721951,CR749490,DA859085,DA886370 NP_061923,EAW73664,BAA92588,CAE47751,BAB14249,AAH17382,CAH18315,Q70EK8,Q9H9I0,AAI48590 Hs.431081,Hs.595368 DKFZp781E1417 protein-coding 1343407 USP54 ubiquitin specific peptidase 54 1334457 16713569,15164054,15146197,14715245,14702039,12477932 1334457 159195 NM_152586,AL359074,CH471083,AJ583820,AK094637,AK123711,AK126497,AK127213,AK127267,AL832102,BC026037,BC064967,BC110845,BC130633,BX649087,CN288586 NP_689799,CAO03506,EAW54502,EAW54503,EAW54504,CAE47747,BAC04393,BAC86566,BAC86886,BAC86907,AAH64967,AAI30634,Q5F2F6,Q5F2F7,Q6P1N6,Q6ZSP1,Q6ZSR1,Q6ZSX9,Q6ZTM0,Q70EL1,Q8N1X2 Hs.657355 C10orf29|FLJ37318|bA137L10.3|bA137L10.4 ubiquitin specific protease 54 protein-coding 1346560 USP6 ubiquitin specific peptidase 6 (Tre-2 oncogene) 1580863 9827704,1565468,16555005,17701273,16127172,16099424,15735689,15509780,15509545,15026324,14521938,12838346,12612085,12604796,12477932,8471161,8406013,8247125,1349106 9098 NM_004505,AC012146,AY163314,X63596,X71370,AY143550,BC029495,BX647719,X63546,X63547 NP_004496,AAO21348,CAB94196,AAN38838,AAH29495,CAA45108,CAA45109,CAA45110,CAA45111,P35125,Q15635,Q1K9C9,Q5EXX1,Q6U210,Q8NCR5,Q9UDD3 Hs.448851 GDB:138778 HRP1|TRE17|TRE2|Tre-2 protein-coding 1323420 USP6NL USP6 N-terminal like 1580863 17371873,17081983,16381901,15489336,15489334,15152255,15144186,12477932,11099046,11076863,8700527,8700515,7584028,7584026,12399475 9712 NM_001080491,AL512631,AL590416,CH471072,AK292944,BC010351,BC042943,D13644 NP_001073960,CAH70484,CAI16966,EAW86344,BAF85633,AAH10351,AAH42943,BAA02807,Q0JTB9,Q0JVB2,Q5VV10,Q92738,Q96FW8,CAL37548,CAL37976,CAL38244,CAL38532 Hs.498661 KIAA0019|RNTRE|TRE2NL protein-coding 1315800 USP7 ubiquitin specific peptidase 7 (herpes virus-associated) 1580863 9827704,12093161,11923872,17927229,17651432,17442268,16845383,16713569,16474402,16402859,16160161,15942648,15916963,15808506,15494000,15302935,15247261,15058298,15053880,14676191,14506283,12838346,12507430,11279055,9925944,9130697,9034339,17353931 7874 NM_003470,AC022167,CH471112,AY376241,CR614819,Z72499 NP_003461,EAW85194,EAW85195,AAQ82908,CAA96580,Q6U8A4,Q93009,AAI66690 Hs.706830 GDB:9953247 HAUSP|TEF1 ubiquitin specific protease 7 (herpes virus-associated) protein-coding 1312730 USP8 ubiquitin specific peptidase 8 1580863 9827704,17353931,9628861,17711858,17121848,17035239,16771824,16520378,15489334,15342353,15314180,14702039,13129930,12838346,12477932,11500497,10982817,9582025,7584044,14661020,15778465 9101 NM_005154,AC012170,CH471082,AK091775,AK292400,BC015545,BC026954,BC038801,BC051345,BC062694,BC092443,BC110590,BX537420,D29956 NP_005145,EAW77399,EAW77400,EAW77401,EAW77402,BAF85089,AAH15545,AAH26954,AAH38801,AAH51345,AAI10591,CAD97662,BAA06225,P40818,Q05CD9,Q05DF5 Hs.644563 GDB:9784476 FLJ34456|HumORF8|KIAA0055|MGC129718|UBPY ubiquitin specific protease 8 protein-coding 1350484 USP8P ubiquitin specific protease 8 pseudogene 394216 1606030 USP9X ubiquitin specific peptidase 9, X-linked This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 16964243,16344560,15772651,15592455,15203218,17081983,17038327,14743216,14742711,12617843,12477932,10737800,9110174,8619474,17353931,9722616,10620020,9827704,16306228,8922996,18254724 8239 NM_001039590,NM_001039591,AC006121,AL109797,AL391259,CH471141,AA261797,AB209666,AF070645,AJ012078,AW183065,BC014792,BC046205,BC054861,BC063645,BE925861,BX956755,CD619095,CR606277,CR614660,DA854185,X98296 NP_001034679,NP_001034680,EAW59406,EAW59407,EAW59408,EAW59409,EAW59410,EAW59411,EAW59412,BAD92903,AAC25395,AAH46205,AAH63645,CAA66942,Q59EZ5,Q6P468,Q86X58,Q93008 Hs.77578 GDB:9839318 DFFRX|FAF|FAM protein-coding 1342718 USP9Y ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila) This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mutations in this gene have been associated with Sertoli cell-only (SCO) syndrome and male infertility. 1580863 8922996,9384609,18357961,18062861,17968468,17762975,17682003,17624343,17609244,17416365,17412880,16893908,16674553,16580382,16572913,15498781,15287977,14983005,14967370,14759258,14718045,14660691,12925892,12900510,12895410,12871878,12815422,12767260,12650910,12508125,12085107,12031043,11869379,11341481,10767340,10581029,9847074,9827704,9381176,8817327,1723470 8287 NM_004654,AC002531,CH471155,AF000986,BI754571,CK823170,DQ151535,Y13618,Y13619 NP_004645,EAW91607,EAW91608,AAC51833,ABA28747,CAA73940,CAA73941,O00507 Hs.655309 GDB:9839319 AZF|AZF1|AZFA|DFFRY|SP3 ubiquitin specific protease 9, y-linked (fat facets-like, drosophila) protein-coding 1603480 USP9YP1 USP9Y pseudogene 1 12815422,9847074 387362 NG_004636,AC022486 pseudo 1603479 USP9YP2 USP9Y pseudogene 2 12815422,9847074 387363 NG_004636,AC007379 pseudo 1321964 USPL1 ubiquitin specific peptidase like 1 14702039,12477932 10208 CH471075,AK057514,AK289826,AL832776,BC012594,BC036027,BC038103,BI752017,CR627370,X59131,NM_005800,AL138681 CAH70264,EAX08466,BAF82515,AAH36027,AAH38103,CAH10469,CAA41848,Q5W0Q7,NP_005791 Hs.533831 C13orf22|D13S106E|DKFZp781K2286|FLJ32952|RP11-121O19.1|bA121O19.1 protein-coding 1312363 UST uronyl-2-sulfotransferase Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM] 1580863 10187838,17227754,16192264,15489334,14574404,12477932 10090 NM_005715,AL357992,AL359252,AL589705,AL590485,AL807246,CH471051,AB020316,AJ420554,AK292922,BC093668,BC093694 NP_005706,CAH70738,CAH70147,CAI17058,CAH74028,EAW47812,BAA77510,BAF85611,AAH93668,AAH93694,Q9Y2C2 Hs.657370 GDB:9954988 2OST protein-coding 1346918 UTF1 undifferentiated embryonic cell transcription factor 1 1580863 9748258,18281244,15164054,11467843,9524124 8433 NM_003577,AL445199,CH471211,AB011076,AY606112 NP_003568,EAW61322,BAA33463,AAT38949,Q5T230,AAI66624 Hs.458406 GDB:9955143 protein-coding 731994 UTP11L UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 12559088,17081983,16710414,15635413,15489334,14702039,12477932,11860508,11790298,10810093,7829101 51118 NM_016037,AL603790,CH471059,AF067802,AF151852,AK023587,AK291900,BC005182,BI493106,BU620078,BU940926,CX163866 NP_057121,CAH69932,EAX07299,EAX07300,AAF75562,AAD34089,BAF84589,AAH05182,Q9Y3A2 Hs.472038,Hs.637686 CGI-94|CGI94 comparative gene identification transcript 94 protein-coding 1347961 UTP14A UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 1580863 15383276,17081983,16565220,16189514,16169070,15772651,15489334,15289605,12477932,12429849,9610721 10813 NM_006649,AL034405,CH471107,AF039694,AK291918,BC001149,BC009649,BC014987 NP_006640,CAI42908,CAI42909,EAX11820,AAC18043,BAF84607,AAH01149,AAH09649,AAH14987,O60531,Q9BVJ6,ABM83475,ABM86686 Hs.458598 KIAA0266|NY-CO-16|SDCCAG16|dJ537K23.3 protein-coding 1344153 UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 15289605,16354793,15489334,15057823,12477932,9039502 9724 NM_021645,AL139082,CH471075,BC089407,BC122536,D87455 NP_067677,CAI12891,EAX08899,EAX08900,EAX08901,EAX08902,EAX08903,AAH89407,AAI22537,BAA13396,Q08E77,Q5TAP6 Hs.512963 2700066J21Rik|KIAA0266|MGC104971|UTP14B protein-coding 1604578 UTP15 UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 11256614,16381901,15489336,15489334,14702039,12477932,12429849,11230166,11076863 84135 NM_032175,AC010279,CH471084,AK022849,AK074217,AL831972,BC013064,BC150197,BX094101,CR457295,CR597969 NP_115551,EAW95731,BAB14271,BAB85020,AAH13064,CAG33576,Q0JSU2,Q0JV45,Q8TED0,CAL37615,CAL38422 Hs.406703 FLJ12787 protein-coding 1349005 UTP18 UTP18, small subunit (SSU) processome component, homolog (yeast) 15590835,15199122,17081983,16964243,15489334,15302935,12477932,12429849,10810093,9110174,8619474 51096 NM_016001,AC006141,CH471109,AF151806,AK026355,AY007138,BC001535,BC025276,BG723023,BM548967,CR618262 NP_057085,EAW94559,AAD34043,AAG01999,AAH25276,Q9Y5J1 Hs.709327 CGI-48|WDR50 wd repeat domain 50 protein-coding 1607048 UTP20 UTP20, small subunit (SSU) processome component, homolog (yeast) 16053918,9673349,15590835,17498821,16565220,16458307,15656982,15635413,15302935,14503924,12837249,12429849,11790298,7566098 27340 NM_014503,AC063948,AC063951,CH471054,AA306482,AF072718,AJ006778,AK000333,BX957203,CR616735 NP_055318,EAW97652,EAW97653,EAW97654,EAW97655,EAW97656,AAG35208,CAA07243,O75691 Hs.295732 DRIM protein-coding 1603977 UTP3 UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 11256614,17081983,17015728,16565220,16381901,16169070,15635413,15489336,15489334,14702039,12477932,11790298,11230166,11076863 57050 NM_020368,AC009570,CH471057,CS300532,AF271212,AK026909,AL136590,BC004546,CR533544,CR607462 NP_065101,EAX05627,CAK32196,AAF91408,BAB15588,CAB66525,AAH04546,CAG38575,Q0JTQ5,Q0JU61,Q9NQZ2,CAL37740,CAL37950,CAL38107,ABM83925,ABW03551 Hs.322901 CRL1|CRLZ1|FLJ23256|SAS10 protein-coding 1603639 UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) 17632510,17380155,16189514,16138909,15635413,15489334,14702039,12477932,12429849,12097419,10843809,9373149,8125298 55813 NM_018428,AC004253,AC129917,CH471147,AF116631,AF244135,AF334386,AJ272197,AK057202,AK126564,AK225448,BC015454,BC035325,CR607732,CR625726 NP_060898,EAW80259,AAF71054,AAF66244,AAO15382,CAB77268,AAH15454,AAH35325,Q9NYH9,Q9P1J8 Hs.589862 C17orf40|HCA66 protein-coding 731341 UTRN utrophin This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. 737706,1580863 8576247,9288751,8977119,1426262,17507653,17081983,16710609,16598790,16595608,16344560,16295426,16198105,16049973,15231748,15146197,14702039,12633873,12619170,12499352,12370193,12054535,12034776,12006649,11997063,11875058,11861579,11796130,11430802,11377836,11178104,10995443,10769203,10767429,10737800,10647184,10545507,10369873,9887274,9701558,8889548,8281135,7890770,7844150,7589238,2541343,2203673,2014247,1461283,1400579 737706 7402 AL513184,AL513475,AL590488,AL590704,CH471051,AK023675,AK292506,BE817979,BM729107,BX100445,BX472896,CA449403,CN360586,DB079517,X15488,X69086,NM_007124,AL024474,AL357149 CAI13032,CAI13033,CAI13034,CAI16497,CAI10894,CAI10895,CAI10897,EAW47845,EAW47846,EAW47847,EAW47848,BAF85195,CAA33515,CAA48829,P46939,Q5JRT0,Q5JRT1,Q5JRT2,Q5JRT5,Q5SZ57,Q5T097,Q5THP1,Q6LBS5,CAI40393,NP_009055,CAI23353,CAI23354,CAI40388,CAI40389,CAI40390,CAI40391,CAI40392 Hs.133135 GDB:119851 DMDL|DRP|DRP1|FLJ23678 protein-coding 737599 UTS2 urotensin 2 This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. 1580806,1580807,1580808,1580809,1580863 10499587,18086953,18067077,17327028,17143557,16866021,16807543,16783414,16710414,16597476,16508659,16343502,16172428,15891007,15866083,15618545,15476949,15379892,15340161,15306183,15201550,15007012,12975309,12905622,12830381,12791592,12509909,12477932,12468107,12381671,12297490,12203418,12088848,11725162,11344221,10581185,9861051,9279525 1580806,1580807,1580808,1580809 10911 CH471130,Z98884,AF104118,AF140630,AY358375,BC025776,BC126443,NM_021995,NM_006786 EAW71587,EAW71588,EAW71589,CAB63148,CAI21438,AAD13070,AAD55577,AAQ88741,AAI26444,A0AVP6,O95399,NP_068835,NP_006777 Hs.162200 GDB:9958587 PRO1068|U-II|UCN2|UII protein-coding 1603529 UTS2D urotensin 2 domain containing 18000598,17919235,17327028,16940699,14702039,14550283,12477932 257313 NM_198152,AC126567,CH471052,AB116021,AK090630,AY321313,BC112166 NP_937795,EAW78091,EAW78092,EAW78093,EAW78094,BAC98929,AAQ83883,AAI12167,Q2M1Z2,Q765I0 Hs.518492 MGC138371|U2B|URP protein-coding 1342744 UTS2R urotensin 2 receptor 633970,1580807,1580812,1580863 10499587,17617581,17595527,17537987,16597476,15752584,15476949,15306183,14753294,14550283,11015293,10828617,10581185,9861051,8666380 633970,1580807,1580812 2837 NM_018949,AC132938,AF140631,CH471099,BC136490 NP_061822,AAD55578,EAW89768,AAI36491,Q9UKP6 Hs.192720 GPR14|UTR|UTR2 protein-coding 1354488 UTX ubiquitously transcribed tetratricopeptide repeat, X chromosome 1580863 18003914,17851529,17761849,17713478,17500065,15758204,15345747,15302935,15231748,14660691,12477932,10767340,9854018,9499428,9381176 7403 NM_021140,AC136488,AL133545,AL138744,AY591397,CH471141,AB208795,AF000992,AF000993,AL041377,AL831996,BC093868,BC113381,BX640694,CR598760,CR749602,DC381812 NP_066963,CAI40508,AAT86073,EAW59368,BAD92032,AAC51839,AAC51840,CAD89904,AAH93868,AAI13382,CAE45817,CAH18397,O15550,Q52LL9,Q590H7,Q59HG3,Q5JV43,Q68D33,Q6N053,Q86TD1 Hs.522616 GDB:9860412 DKFZp686A03225|MGC141941|bA386N14.2 protein-coding 1342500 UTY ubiquitously transcribed tetratricopeptide repeat gene, Y-linked This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. This protein is a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. Alternative splicing results in multiple transcript variants encoding different isoforms. 1580863 15758204,14660691,12815422,12665801,12477932,11049993,10861003,10767340,10679124,9854018,9499428,9381176,8944031 7404 NM_007125,NM_182659,NM_182660,AC005820,AC006376,AC010877,AF132076,AF265575,AY591407,CH471155,AF000994,AF000995,AF000996,AK292858,BC012581,BC029389,BC051718,BC071744,CR595226,CR936684 NP_009056,NP_872600,NP_872601,AAF36521,AAF77052,AAT86083,EAW91613,AAC51841,AAC51842,AAC51843,BAF85547,AAH51718,AAH71744,O14607,Q590G7,Q6IPS8,Q86UB8,Q9NR08,Q9P108,AAI40392 Hs.115277 GDB:9864459 DKFZp686L12190|UTY1 protein-coding 1317170 UVRAG UV radiation resistance associated gene This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. 1580863 9169138,17106237,16799551,16344560,14737099,14702039,12928850,12477932,10798355,9533029,9373149,8125298,2332174 7405 NM_003369,AP002340,AP003031,AP003168,CH471076,X99050,AB012958,AK095352,AK222772,AK291011,BC013176,BC064837,CR608114,DB087351 NP_003360,EAW74986,EAW74987,CAA67507,BAA90829,BAD96492,BAF83700,AAH64837,Q53H09,Q6P1X0,Q9P2Y5 Hs.202470 GDB:5583220 DHTX|p63 protein-coding 735996 UXS1 UDP-glucuronate decarboxylase 1 UDP-glucuronate decarboxylase (UGD; EC 4.1.1.35) catalyzes the formation of UDP-xylose from UDP-glucuronate. UDP-xylose is then used to initiate glycosaminoglycan biosynthesis on the core protein of proteoglycans.[supplied by OMIM] 16303743,15815621,15489334,14702039,12975309,12477932,12391314,11877387,9373149,8125298 80146 CQ783167,AI217133,AK027244,AK056022,AK075120,AK075170,AK122696,AK225592,AK290668,AL834439,AY147934,AY358541,BC009819,BI550591,BI825770,BM472113,BX366726,CF242897,CR592836,NM_025076,AC018878,CH471127 EAX01748,EAX01749,EAX01750,CAF86373,BAB15705,BAC11415,BAC11448,BAF83357,CAD39099,AAN39844,AAQ88905,AAH09819,Q8NBZ7,Q8ND26,ABM84178,ABM87580,NP_079352,AAY15085,EAX01747 Hs.469561 GDB:11508138 FLJ23591|UGD protein-coding 1347196 UXT ubiquitously-expressed transcript This gene encodes a novel protein which is highly conserved in mouse. It interacts with the N-terminus of the androgen receptor and plays a role in facilitating receptor-induced transcriptional activation. It is also likely to be involved in tumorigenesis as it is abundantly expressed in tumor tissues. This gene is part of a gene cluster on chromosome Xp11.23. Alternative splicing results in 2 transcript variants encoding different isoforms. 1580863 15772651,15489334,15231747,14711828,12477932,11944989,11854421,11827465,11042152,10087202,9373149,8125298,14645504,16189514,11799066,14615539,12762840,16221885,17761951,17635584,17620405,17554592 8409 NM_153477,NM_004182,AL009172,CH471164,CQ834162,CQ834164,AF083241,AF083242,AF092737,AK223320,BC000720,BC008890 NP_705582,NP_004173,CAI42447,CAI42448,CAI42449,EAW59324,EAW59325,EAW59326,CAH05296,CAH05297,AAD39839,AAD39840,AAD28698,AAH00720,AAH08890,Q53FG8,Q9UBK9 Hs.172791 GDB:9865066 ART-27 protein-coding 1347283 VAC14 Vac14 homolog (S. cerevisiae) 634487 8611628,17556371,12477932,17353931,17161399,16767081,15542851,14702039,12719380 634487 55697 AK056433,AK093941,AL137396,NM_018052,XM_001125720,AC020763,AC027281,CH471241,AK001167,AK025479,BC000536,BC007214,BC110072,BC110852,BC125108,BC125109,CR457343,U25801 BAB15145,NP_060522,XP_001125720,EAW51791,EAW51792,EAW51793,EAW51794,EAW51795,BAA91530,CAB70724,AAH00536,AAH07214,AAI25109,AAI25110,CAG33624,AAB03813,Q08AM6,Q9NTB8,Q9NW56 Hs.445061 ArPIKfyve|FLJ10305|FLJ36622|MGC149815|MGC149816|TAX1BP2|TRX protein-coding 736120 VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. VAMP1 is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Multiple alternative splice variants that encode proteins with alternative carboxy ends have been described, but the full-length nature of some variants has not been defined. 1580863 9920726,1976629,12878157,12477932,12093152,10544008,9658161,9657962,9396746,8760387,8663154,16189514 6843 NM_014231,NM_016830,AC005840,CH471116,M36196,M36197,M36198,M36199,M36200,AF060538,AK289498,AU279974,BC023286,BE246448,BF338798,NM_199245,BF341451,BI838752,BM837373,BQ717992,CB215628,CR542214,CR542231,CR749485,R83084,Z48924 NP_954740,NP_055046,NP_058439,EAW88792,EAW88793,EAW88794,EAW88795,EAW88796,AAA60603,AAC28336,BAF82187,AAH23286,CAG47010,CAG47027,CAH18312,CAA88760,P23763 Hs.20021 GDB:125292 DKFZp686H12131|SYB1|VAMP-1 vesicle-associated membrane protein 1 protein-coding 735448 VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. 9920726,1976629,18182011,17356306,17331077,17313651,17196367,17001002,16195891,15327778,14702039,12853575,12847087,12773094,12517971,12485399,12477932,12417022,12200427,12093152,11842301,11832227,11786915,11295657,11278762,11101518,10965122,10932255,10713150,10662545,10370136,10336434,10100611,10036234,9817754,9658161,9657962,9373149,9341137,9030619,8999968,8973549,8770861,8760387,8125298,8011337,7961655,7835332,7499863,16189514,12828989,12181340,12832401,15610015 6844 AC129492,AF135372,CH471108,M36201,M36202,M36203,M36204,M36205,AJ225044,AK021522,AK225777,AK289555,AL050223,BC002737,BC019608,BC033870,NM_014232,BU625107 NP_055047,AAF15551,EAW90086,EAW90087,AAA60604,CAA12385,BAF82244,CAH10733,AAH02737,AAH19608,AAH33870,Q69Z01,P63027,Q9BUC2 Hs.25348 GDB:125293 FLJ11460|SYB2|VAMP-2 vesicle-associated membrane protein 2 protein-coding 736779 VAMP3 vesicle-associated membrane protein 3 (cellubrevin) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. 1580863 9885218,16710414,16354670,15525538,15489334,12828989,12665801,12477932,12130530,11839770,11809765,11786915,11278762,11101518,10820264,9817754,9701566,9614185,9396746,8973549,16189514,15610015 9341 NM_004781,CH471130,Z98884,BC003570,BC005941,BC007050,BT007327,CR542145,CR542154,CR592566,CR608048,U64520 NP_004772,EAW71582,CAB63146,AAH03570,AAH05941,AAH07050,AAP35991,CAG46942,CAG46951,AAB05814,Q15836,Q6FGG2,Q9BRV4 Hs.66708 GDB:9956029 CEB protein-coding 1320258 VAMP4 vesicle-associated membrane protein 4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. 9553086,17081983,15896658,15489334,14702039,14608369,12682051,12477932,11839770,11598115,10839363,10359608,9110174,8619474,16189514 8674 CH471067,Z98751,AF044310,AF052100,AK056124,AK123624,AK290441,AL035296,BC005974,BC007019,BC031264,NM_003762,CR457011 NP_003753,EAW90904,EAW90905,EAW90906,EAW90907,EAW90908,EAW90909,CAI21808,AAC24032,BAF83130,CAA22896,AAH05974,AAH07019,AAH31264,CAG33292,O75379,Q6IAZ3 Hs.6651 GDB:9956233 VAMP24 protein-coding 1350486 VAMP5 vesicle-associated membrane protein 5 (myobrevin) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. 1580863 9725904,16110299,15489334,12682051,12477932,11042152 10791 AC016753,CH471053,AF054825,AF077197,AF151025,AK292660,BC017891,CR542215,NM_006634 NP_006625,AAY24342,EAW99508,AAC97473,AAD26992,AAF36111,BAF85349,AAH17891,CAG47011,O95183,Q6FG93,ABM82898,ABM86088 Hs.172684 GDB:9958289 protein-coding 1350434 VAMP7 vesicle-associated membrane protein 7 1580863 14993220,6495485,10888671,15133481,16495485,10459012,15470500,18253931,18042464,16430921,16381901,16354670,16195891,15610015,15489336,15489334,14672948,12853575,12477932,12444103,12175335,11840509,11786915,11440841,11278762,11101518,11076863,10655549,10564831,9614185,9373149,8640232,8125298 6845 NM_005638,AJ271736,CH471247,AJ295938,AJ549301,AK222794,BC056141,CR604175,CR609740,X92396 NP_005629,CAB96816,EAW55877,EAW55878,EAW55879,EAW55880,EAW55881,EAW55882,EAW55883,CAC16891,CAD70593,BAD96514,AAH56141,CAA63133,P51809,Q0JU02,CAL38010 Hs.24167 GDB:1320393 SYBL1|TI-VAMP|VAMP-7 synaptobrevin-like 1 protein-coding 1347649 VAMP8 vesicle-associated membrane protein 8 (endobrevin) Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. It is associated with the perinuclear vesicular structures of the early endocytic compartment. It has been found that VAMP8 interacts specifically with the soluble NSF-attachment protein (alpha-SNAP), most likely through an VAMP8-containing SNARE complex. 9614193,18253931,18073581,17975119,16690874,16195891,16110299,15815621,15489334,12828989,12477932,12130530,11786915,11278762,11112705,11101518,11029036,10820264,10601239,10336434,9878266,8889548 8673 NM_003761,AC016753,CH471053,AF053233,BC001634,BM702226,BQ227618,BT006700,CD367710,CR456995,CR594380 NP_003752,AAY24341,EAW99506,AAC08434,AAH01634,AAP35346,CAG33276,Q9BV40 Hs.534373 GDB:9956224 EDB protein-coding 1319967 VANGL1 vang-like 1 (van gogh, Drosophila) 1580863 15205336,17409324,16410243,15952208,15456783,12477932,12011995,11956595,15489334 81839 NM_138959,AL450389,CH471122,CS185662,AB057596,AB075805,AF481859,BC000907,BC032773,BC065272,BC082967,BM552933,CR609810 NP_620409,CAI23371,CAI23372,EAW56630,EAW56631,EAW56632,EAW56633,Q5T1D3,Q5T1D4,Q8TAA9,Q96J52,CAJ42843,BAB86334,BAB86362,AAO61751,AAH00907,AAH32773,AAH65272 Hs.515130 GDB:11500436 LPP2|MGC5338|STB2|STBM2 protein-coding 1319787 VANGL2 vang-like 2 (van gogh, Drosophila) The VANGL2 gene encodes a homolog of Drosophila 'strabismus/Van Gogh' (Stbm/Vang), a component of the frizzled-dishevelled tissue polarity pathway (Kibar et al., 2001 [PubMed 11431695]).[supplied by OMIM] 1580863,2293492 18034999,16710414,15489334,15195140,12490194,12477932,11431695,10574462 2293492 57216 NM_020335,AL445230,CH471121,AB033041,AK290981,AL137558,BC103919,BC103920,BU162175,BX420618 NP_065068,CAI15015,EAW52717,EAW52718,BAA86529,BAF83670,Q3SY83,Q9ULK5,AAI66628 Hs.99477 GDB:11500431 KIAA1215|LPP1|LTAP|MGC119403|MGC119404|STB1|STBM|STBM1 protein-coding 737415 VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 61779,1580863 16895911,9920726,16227268,12761501,9657962,10523508,15489334,15342556,15016871,14702039,12477932,11511104,16189514,12023275,15326295,10544080 61779 9218 NM_003574,NM_194434,AC006238,CH471113,AF044670,AF057358,AF086627,AF154847,AK024299,AK096868,AK123434,AK292948,BC002992,BC033947,BC042860,BG488667,BG719406,BP209270,BT019618,CR592788,CR595148,CR607357,CR610939,CR615746,CR616989,CR624715,CR626025,CR626388 NP_003565,NP_919415,EAX01590,EAX01591,EAX01592,AAD09742,AAC26508,AAD13576,AAF72105,BAF85637,AAH02992,AAV38424,Q9P0L0 Hs.699980 GDB:9955485 MGC3745|VAP-33|VAP-A|VAP33|hVAP-33 vesicle-associated membrane protein, associated protein a protein-coding 68452 VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. 61779,1580863 17540579,9920726,16227268,16891305,15372378,18322265,17947296,17804640,17536055,17081983,16729899,16571669,16565220,15545272,15489334,15060112,14702039,12975309,12665801,12477932,12130530,11780052,10931946,10820264,10657150,12651853,16189514 61779 9217 NM_004738,AL035455,CH471077,AB209665,AF086628,AF086629,AF160212,AK023241,AK024771,AK025720,AK123538,AK127252,AK128422,AL833440,AY358464,BC001712,BT009811 NP_004729,CAC15021,CAM27023,EAW75493,EAW75494,EAW75495,BAD92902,AAD13577,AAD13578,AAF67013,BAC86901,BAC87433,AAQ88829,AAH01712,AAP88813,O95292,Q53XM7,Q59EZ6,Q6ZR82,Q6ZSP7 Hs.182625 GDB:9955483 ALS8|VAMP-B|VAMP-C|VAP-B|VAP-C vesicle-associated membrane protein, associated protein b and c protein-coding 735744 VARS valyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. 1580863 17353931,8428657,16229838,15779907,15489334,14656967,14574404,12477932,8666263,8294461,3169261,2556394,2477242,1898367,16189514,14743216 7407 BC012808,CR612648,CR615665,CR622653,CX167000,CX781162,M98326,X59303,NM_006295,AF134726,AL662834,AL662899,AL671762,AL929592,BA000025,CH471081,CR925765 AAH12808,AAA81332,CAA41990,P26640,Q5SP20,NP_006286,AAD21819,CAI17732,CAI18384,CAI18211,CAI18461,BAB63303,EAX03523,EAX03524,CAQ10624 Hs.520026 GDB:128120 G7A|VARS1|VARS2 valyl-trna synthetase 2 protein-coding 1343974 VARS1 valyl-tRNA synthetase 1 7406 GDB:120485 1346332 VARS2 valyl-tRNA synthetase 2, mitochondrial (putative) 14702039,12477932,11572484 57176 AL662854,AL669830,AL773541,CH471081,CR759747,AB067472,AK000511,AK025618,AK026063,AK094483,AK125069,NM_020442,AL122037,BC008844,BC009355,BC063427,BC073838,BC112054,BC113605,AB209479 NP_065175,CAI17437,CAI18004,CAI18453,CAI18454,EAX03348,EAX03349,CAQ06764,BAB67778,BAB15191,BAB15344,BAC86041,CAB59177,AAH08844,AAH09355,AAH73838,AAI12055,AAI13606,Q2M2A0,Q59FI1,Q5SQ95,Q5SQ96,Q5SS97,Q5SS98,Q5ST30,Q5ST31,Q6DKJ5,Q6ZV24,Q96GN2,Q96H77,Q96Q02,Q9H6B7,Q9H6R2,Q9UFH7,BAD92716 Hs.597526 MGC138259|MGC142165|VARS2L|VARSL protein-coding 1352548 VASH1 vasohibin 1 18325046,16707096,16488400,15649403,15489334,15467828,12508121,12477932,10737800,10470851,9110174,8619474 22846 NM_014909,AC007376,AF111169,CH471061,AB028959,AF055021,AK291377,AL041425,AL832588,BC009031,BC051896,BE674799,BF741850 NP_055724,AAF02829,AAD44361,EAW81259,EAW81260,BAA82988,BAF84066,CAD89941,AAH09031,AAH51896,Q7L8A9 Hs.525479 GDB:9957185 KIAA1036 protein-coding 1602689 VASH2 vasohibin 2 16710414,16528006,15489334,14702039,12477932 79805 AL592449,NM_024749,CH471100,AK022567,AK096605,AK290973,AY834202,BC028194,BC051856,BC053836 CAH71916,CAH71917,CAH71918,NP_079025,EAW93371,EAW93372,EAW93373,BAB14103,BAF83662,AAX39752,AAH28194,AAH51856,AAH53836,Q86V25 Hs.96885 FLJ12505|RP11-275G3.1 protein-coding 1605593 VASN vasorin 16335952,12477932,15489334,15247411,12975309 114990 NM_138440,AC012676,CH471112,AY166584,AY358298,AY358299,BC013767,BC068575,CR625381 NP_612449,EAW85311,AAO27704,AAQ88665,AAQ88666,AAH13767,AAH68575,Q6EMK4 Hs.372579 GDB:11510872 SLITL2 protein-coding 1323055 VASP vasodilator-stimulated phosphoprotein Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. 1580863 17488353,17351763,17167837,17082196,16531412,16336193,16197368,16189514,16046415,15939738,15642358,15634270,15592455,15569942,15489334,15469846,15469845,15178555,15158464,14706852,14679200,14592989,14557252,12805219,12695497,12665801,12652017,12576312,12571287,12566781,12492113,12477932,12397215,12372613,12220179,12087107,11756574,11598004,11313394,11093254,10990454,10922374,10882740,10851246,10801818,10747096,10637295,10438535,10087267,8812448,8182057,7925440,7737110,7644520,1319722,1318192,14506234,7828592,18278200,18217157,18064332,17938817,17914456,17684063 7408 NM_003370,AC006117,CH471126,X98534,AL556269,BC026019,BC038224,BG751094,BG825983,CR615417,Z46389 NP_003361,EAW57362,EAW57363,EAW57364,EAW57365,CAA67147,AAH26019,AAH38224,CAA86523,P50552 Hs.515469 GDB:1313479 protein-coding 1319007 VAT1 vesicle amine transport protein 1 homolog (T. californica) Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. 1580863 7581362,7545954,8938427,15489334,14702039,12477932,8076819,7987831,7774926 10493 CR618877,CR620205,CR622345,U18009,U25779,NM_006373,AC055866,AC135721,CH471152,L78833,AK000237,AK097072,AK290460,BC001913,BC008725,BC014279,BC015041,BC068489,BC090858,BT007369,CR594124,CR613076 AAA95990,AAA93230,Q16464,Q99536,NP_006364,EAW60917,EAW60918,AAC37596,BAF83149,AAH01913,AAH08725,AAH14279,AAH15041,AAH90858,AAP36033 Hs.514199 GDB:9959006 FLJ20230|VATI vesicle amine transport protein 1 homolog (t californica) protein-coding 1351150 VAULTRC1 vault RNA component 1 9535882 56664 AF045143,BD247418 GDB:10796839 HVG1|VR1|vRNA protein-coding 1347664 VAULTRC2 vault RNA component 2 9535882 56663 AF045144,BD247419 GDB:10796840 HVG2|VR2 protein-coding 1347028 VAULTRC3 vault RNA component 3 9535882 56662 AF045145 GDB:10796841 HVG3|VR3 protein-coding 2292049 VAULTRC4 vault RNA component 4 pseudogene 12758122 100144435 BD247421 HVG4 pseudo 737234 VAV1 vav 1 guanine nucleotide exchange factor The protein encoded by this proto-oncogene is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding proteins. The protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. This particular GEF has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. 1580863 10394361,2477241,18295596,18160398,18160397,17716865,17590270,17550897,17275330,17237383,17060455,17050525,17015707,16728400,16397238,16339550,16289966,15878332,15872091,15850391,15817684,15699036,15696170,15652748,15618472,15618286,15592455,15558030,15546961,15345594,15182247,14757747,14709332,12917349,12885870,12884293,12881521,12616499,12496381,12477932,12400014,12393632,12386169,12376551,12234921,12084069,12055221,11859076,11857085,11839310,11790798,11716957,11390470,11368773,11331248,11287617,11133830,10938113,10867021,10790433,10780782,10760587,10748082,10725744,10713703,10673353,10669745,10669724,10664460,10662792,10620604,10207103,10022833,9891995,9822663,9697839,9489702,9438848,9400828,9399639,9373149,9341187,9201297,9200440,9162069,9115846,9047237,9013873,8986718,8900182,8649418,8632004,8622875,8621483,8570203,8554611,8530437,8524317,8432525,8125298,8051112,7862126,7809090,7798261,7768923,7651724,7535775,7530656,7528218,7478592,2069873,2005887,1565462,1375396,9269777,16454711,16356860,16091223,14597672,12734410,11463741,11525746,16189514,12755701,15882624,14673152 7409 NM_005428,AC010647,AC020895,AC020954,AC022156,AF030201,AF030202,AF030203,AF030204,AF030205,AF030206,AF030207,AF030208,AF030209,AF030210,AF030211,AF030212,AF030213,AF030214,AF030215,AF030216,AF030217,AF030218,AF030219,AF030220,AF030221,AF030222,AF030223,AF030224,AF030225,AF030226,AF030227,AF216848,AF216849,AF216850,AF216851,CH471139,M59834,AK225710,BC013361,X16316,X83931 NP_005419,AAC25011,EAW69057,EAW69058,AAA63267,AAH13361,CAA34383,CAA58783,P15498,Q96D37 Hs.116237 GDB:127112 VAV protein-coding 1314818 VAV2 vav 2 guanine nucleotide exchange factor VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. 1580863 15618286,17686471,17234718,16381901,15850391,15489336,15345594,14702039,12810717,12477932,12454019,11909943,11606575,11516622,11448999,11390470,11313921,11262396,11080163,11076863,10982832,10938113,10618391,10022833,9115846,7762982,9269777,8621483 7410 NM_003371,AL357934,AL445931,AL590710,CH471090,AF258564,AJ420448,AK091622,AK123314,AK130475,AK130575,AY563001,BC033187,BC043615,BC128448,BC132965,BC132967,BQ050947,BQ071939,BX640754,S76992 NP_003362,CAI13722,CAI13723,CAI13724,CAI12278,CAI12279,CAI12280,EAW88107,EAW88108,EAW88109,AAG23767,BAC85362,AAS75591,AAH33187,AAI28449,AAI32966,AAI32968,CAE45861,AAB34377,P52735,Q5T1R9,Q5T1S0,Q5T1S1,Q6N012,Q6PIJ9,Q6Q317,Q6ZNX0,Q6ZVN9,Q8WY83,CAL37891,CAL38383 Hs.369921,Hs.678824,Hs.689325 GDB:370880 protein-coding 1343957 VAV3 vav 3 guanine nucleotide exchange factor This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. 1580863 10523675,16762975,16384856,15708849,15456756,14757747,14702039,12400014,11805146,11094073,10713454,9705494,8622875,9269777 10451 NM_006113,NM_001079874,AC114491,AL353892,AL391235,AL513206,AL591042,CH471156,AF035442,AF067817,AF118886,AF118887,AI304566,AK097750,CR611410,DR002311 NP_006104,NP_001073343,EAW51251,EAW51252,AAC79695,AAD20348,AAD20349,O60498,Q5VUU3,Q5VUU4,Q9UKW4,AAI46366,AAI56727,AAD03799 Hs.267659 GDB:9957050 FLJ40431 protein-coding 1351722 VAX1 ventral anterior homeobox 1 This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. 17963489,15489334,15164054,14702039,12477932,10485894,9636075,8889548 11023 NM_199131,NM_001112704,AL731557,CH471066,AK127095,BC101694,BC101696 NP_954582,NP_001106175,CAI14824,CAI14825,EAW49432,EAW49433,BAC86826,AAI01695,AAI01697,Q5SQQ9,ABZ92468 Hs.441536 GDB:9956187 MGC126743|MGC126745 protein-coding 731657 VAX2 ventral anterior homeobox 2 VAX2 gene was named based on its high seqeunce similarity to VAX1 gene and is almost exclusively expressed in the ventral portion of the retina during development. It may play an important role in morphogenetic processes underlying the correct development of the eye, particularly in the establishment of a correct dorsoventral pattern. 724805,1580863 10485894,16953426,15489334,12477932 724805 25806 NM_012476,AC007040,CH471053,BC006336,BT007035,Y17791 NP_036608,EAW99792,AAH06336,AAP35683,CAB56166,Q53Y33,Q9UIW0 Hs.249170 GDB:10795399 DRES93 protein-coding 1352433 VBP1 von Hippel-Lindau binding protein 1 The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. Because it functions as a chaperone protein, it is suspected that it may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. 8674032,17698809,15772651,15489334,14634002,12613020,12591739,12579260,12477932,10441001,9931330,9630229,9339366,15063765,15572213,14729622,12169691 7411 NM_003372,NG_005114,AL356738,CH471172,AA781721,BC009570,BC040002,BC046094,BT019604,CR541932,CR595254,CR596441,CR600706,CR604493,CR608323,CR609299,CR611663,CR612569,CR616139,CR616685,CR618821,CR623613,CR624898,CR625553,U56833,U96759,Y17394 NP_003363,CAI41469,EAW72627,EAW72628,EAW72629,EAW72630,AAH46094,AAV38411,CAG46730,AAC50617,AAC23907,CAA76761,P61758,Q6FH24 Hs.436803 GDB:6392570 PFD3|PFDN3|VBP-1 protein-coding 730988 VCAM1 vascular cell adhesion molecule 1 This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. 1580349,1580350,1580351,1580352,737738 16914554,16902065,16790997,16722038,16644735,16585601,16498082,16344560,16335952,16327982,16317091,16242117,16230423,16184405,18420209,18326231,18227515,18212564,18197885,18078450,17983593,17963163,17962718,17943642,17922685,17906965,17891599,17714716,17702963,17678915,17657162,17616653,17599409,17597073,17586618,17564956,17560459,17531998,17530710,17521609,17517105,17437524,17431880,17430469,17352405,17334226,17303384,17292586,17258924,17255534,17192354,17167725,17142773,17126824,17116732,17115186,17090406,17022986,17008592,16987074,16977262,16127297,16002075,15979542,15845907,15806475,15784173,15710215,15666579,15661918,15661077,15548573,15525877,15489375,15489374,15489334,15340161,15308572,15304054,15299708,15265790,15225366,15116247,15080580,15059493,15009098,14984317,14762656,14748068,14741380,14684616,14615367,14592496,14550782,14534081,12969778,12958610,12940514,12871600,12788528,12759453,12714597,12704784,12700137,12682249,12673844,12650924,12643440,12601490,12587980,12493764,12477932,12433638,12393616,12387879,12351381,12193695,12172576,12172318,12115600,12105209,12097820,12086338,12082081,12006387,11983205,11963839,11961404,11935152,11929779,11922919,11904449,11882338,11847011,11817523,11776680,11520773,11123288,10944555,10623819,10602408,10556825,10477700,10438935,10377075,10209034,9973426,9792375,9603478,9443894,9373149,9269771,9184636,9117345,8977311,8825878,8607877,8125298,7884872,7691867,7545397,7539925,7534402,7531291,7521694,2688898,1715583,1713772,1707873,1707234,1699207,1379595,1377228,1281211,14691297,11517385,15805138,15194470,15078922,16015337,15175347 1580349,1580350,1580351,1580352,737738 7412 NM_001078,NM_080682,AC093428,AF536818,CH471097,M73255,M92431,S50587,AK223266,AK291732,AU121762,BC017276,BC068490,BC085003,CR603251,CR617596,CR749464,M30257,M60335,X53051 NP_001069,NP_542413,AAM96190,EAW72949,EAW72950,AAA61270,BAD96986,BAF84421,AAH17276,AAH68490,AAH85003,CAH18296,AAA51917,AAA61269,CAA37218,P19320,Q53FL7,Q68DC4 Hs.109225 GDB:127922 CD106|DKFZp779G2333|INCAM-100|MGC99561 protein-coding 1349729 VCAN versican 1598495,1598496,1598497,1580863 2583089,18484070,17728259,17453002,17363913,17213182,17097211,17065588,16917090,16877430,16839865,16648628,16636652,16493581,16431924,16311904,16110303,16043844,15871917,15748997,15712181,15599946,15590670,15522894,15342556,15336555,15146197,15142969,15073129,14724283,14558097,12972299,12907688,12888576,12553048,12477932,12438652,12221092,11932252,11839575,11805102,11726670,11566024,11278559,11083865,11038354,10950950,10571340,10400671,10397680,10198161,9848887,9294172,8824283,8627343,8601689,7921538,7876137,7806529,7748141,7528742,2820964,2469524,2466833,1478664,1429726 1598495,1598496,1598497 1462 NM_004385,NM_001126336,AC016568,AC026696,CH471084,S52488,AA426499,AA478645,AB209491,AF084545,BC050524,BP332680,BX641036,CN312093,D32039,DB497892,DT217515,J02814,U16306,U26555,X15998 NP_004376,NP_001119808,EAW95904,EAW95905,EAW95906,EAW95907,EAW95908,EAW95909,EAW95910,EAW95911,AAB24878,BAD92728,AAD48545,AAH50524,CAE46022,BAA06801,AAA36437,AAA65018,AAA67565,CAA34128,P13611,Q59FG9,Q6MZK8,Q86W61 Hs.643801,Hs.695930 GDB:127873 CSPG2|DKFZp686K06110|ERVR|PG-M|WGN|WGN1 chondroitin sulfate proteoglycan 2 (versican) protein-coding 1353825 VCF velocardiofacial syndrome 1360769 7413 GDB:136422 1322560 VCL vinculin Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. Human vinculin protein exhibits a greater than 95% sequence identity to the chicken vinculin protein. 1580356,1580863 7816144,9700171,15501673,16130169,15494027,2116004,18056416,18028034,17932491,17709988,17591693,17088427,17081983,16949038,16826238,16712796,16608855,16407302,16236538,16189514,16097034,15988023,15883197,15728584,15547664,15489334,15231748,15229287,15164054,15070891,14702644,12719976,12665801,12477932,12473693,11741957,11724819,11693560,11577104,11541859,11409571,11358843,11113628,10908164,10882740,10545505,10521485,10320340,10224093,10085297,9885244,9054445,8994410,8612698,8610074,8609175,8440716,8276759,7994488,7682697,7566098,7534286,7525621,2503380,1505973,1339348,14597672,9405455,9535896 1580356 7414 NM_014000,NM_003373,AL596247,AL731576,CH471083,L04933,S87180,S87223,AA368699,AI290052,AK126978,AL700886,AL708715,AL832130,BC013847,BC039174,BX537994,CR612677,M33308 NP_054706,NP_003364,CAI13972,CAI39669,CAI39673,EAW54547,EAW54548,EAW54549,EAW54550,EAW54551,AAA61271,AAB21656,AAB21657,AAH39174,CAD97952,AAA61283,P18206,Q5JQ13,ABM85606 Hs.643896 GDB:125348 CMD1W|MVCL protein-coding 731621 VCP valosin-containing protein The protein encoded by this gene is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, 26S proteasome function, and assembly of peroxisomes. This protein, as a structural protein, is associated with clathrin, and heat-shock protein Hsc70, to form a complex. It has been implicated in a number of cellular events that are regulated during mitosis, including homotypic membrane fusion, spindle pole body function, and ubiquitin-dependent protein degradation. 1599735,1580863 15215856,10855792,15743842,16449189,17681147,16130169,18199748,18166610,18048502,17935506,17907600,17872946,17763460,17626287,17622780,17618707,17493577,17457594,17368566,17346713,17272822,17200190,16966435,16914519,16807242,16783167,16621797,16551632,16525503,16386250,16344560,16289116,16247064,16236267,16234241,16212419,16186510,16186509,15952740,15932873,15883021,15752563,15732117,15592455,15588985,15456787,15452376,15362974,15331598,15034582,14760088,12944474,12810701,12807884,12665801,12560433,12529442,12509440,12504083,12477932,12473691,12351637,11927012,11913976,11689694,11252708,11087817,10931946,10364224,9506515,9452483,9321476,9286697,8595912,8413590,7553851,1602151,17353931 1599735 7415 NM_007126,NG_007312,NG_007887,AC004472,AL353795,CH471071,CQ871270,AF100752,AF313485,AF313486,AI343015,AL137377,BC007562,BC012195,BC017171,BC096751,BC110913,BC121794,BC122550,CR606334,DA880782,DB524539,Z70768 NP_009057,AAC07984,EAW58403,EAW58404,CAH56816,AAD43016,AAG29873,AAG29874,CAB70717,AAH07562,AAI10914,AAI21795,AAI22551,CAA94809,P55072,Q0IIN5,Q0V924,Q5VYM0,Q96IF9,Q9HAP0,Q9HAP1,Q9NTC4 Hs.529782 GDB:3811672 IBMPFD|MGC131997|MGC148092|MGC8560|TERA|p97 protein-coding 1604797 VCPIP1 valosin containing protein (p97)/p47 complex interacting protein 1 11256614,16381901,15489336,15489334,15302935,15037600,14702039,12509440,12477932,12473691,11230166,11076863,9373149,8889548,8125298,11347906 80124 NM_025054,AC090154,CH471068,AB058753,AK026785,AK225580,AL832606,AL834476,BC012498,BC049379,BC062426,BC094799,BC118917,BM980302,CR593204,CR936659 NP_079330,EAW86916,BAB47479,BAB15552,CAD89944,CAD39135,AAH49379,AAH94799,Q0JS73,Q0JVD3,Q96JH7,CAL37527,CAL38641 Hs.632066 DKFZp686G038|DUBA3|FLJ23132|KIAA1850|VCIP135 protein-coding 1343537 VCX variable charge, X-linked This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. 1580863 12862317,12826317,17342728,12477932,10903929,10607842 26609 NM_013452,XM_001718499,AC005296,AF159129,AF167081,BC098123,BC126903 NP_038480,XP_001718551,AAF28174,AAG41767,AAH98123,AAI26904,Q4V774,Q9H320 Hs.567503 GDB:9993465 MGC118975|VCX-10r|VCX-B1|VCX1|VCX10R|VCXB1 protein-coding 1350692 VCX2 variable charge, X-linked 2 This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 2 repeats of the 30-bp unit. 15489334,12477932,11337467,10903929,10607842 51480 BC104167,BC104168,BC134350,NM_016378,AC097626,AF159127,AF167079,AI015625,AU099954,BC096715,BC098101,BC098113,BC098163,BC104153 AAI04168,AAI04169,AAI34351,Q3SXQ9,Q3SXR9,Q4V780,Q9H322,NP_057462,AAF28172,AAG41765,AAH96715,AAH98101,AAH98113,AAH98163,AAI04154 Hs.170076,Hs.279737 MGC118977|MGC125729|MGC125794|MGC125795|VCX-2r|VCX2R|VCXB protein-coding 1345932 VCX3A variable charge, X-linked 3A This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. 10903929,18076704,17157254,16381901,15489336,12477932,11076863,10607842,1549475 51481 NM_016379,AC108684,AJ243947,CH471074,AF159128,AF167078,BC039722,BC098149,BC104154,BC113013,BC126902 NP_057463,CAB56197,EAW98750,AAF28173,AAG41764,AAH98149,AAI04155,AAI26903,Q0JT68,Q3SXR8,Q4V756,Q9NNX9,CAL38296 Hs.170076,Hs.278906 MGC118976|MGC125730|MGC125796|VCX-8r|VCX-A|VCX3|VCX8R|VCXA protein-coding 1603458 VCX3B variable charge, X-linked 3B This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 11 repeats of the 30-bp unit. 12477932,10903929 425054 NM_001001888,AC006062,CH471074,AF167080,BC098143 NP_001001888,EAW98743,AAG41766,AAH98143,Q4KN12,Q9H321 Hs.534814 MGC119815|VCX-C|vcx-c variably charged x-c protein-coding 1349603 VCX3B variable charge, X-linked 3B 494516 1345952 VCY variable charge, Y-linked The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. 15489334,12815422,12477932,10607842,9847074,9381176 9084 NM_004679,NG_004442,AC006370,AC018677,AF000979,AI149997,BC096729 NP_004670,AAF03503,AAC51827,AAH96729,O14598,Q4KN35 Hs.632284 GDB:9954845 BPY1|MGC119817|VCY1|VCY1A protein-coding 1346903 VCY1B variable charge, Y-linked 1B The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. 15489334,12815422,12477932,10607842,9847074,9381176 353513 NM_181880,NG_004442,AC006370,AC018677,BC056508 NP_870996,AAH56508,O14598 Hs.170076 BPY1|BPY1B|VCY1 protein-coding 732557 VDAC1 voltage-dependent anion channel 1 1580863 17353931,8420959,10365962,9843949,18250166,17828567,17336328,17254575,17209561,17081983,16585511,16565220,16236267,16201016,16185087,15952740,15644312,15637055,15635413,15630200,15592455,15489334,15372022,15302935,15033708,14702039,14647451,14573604,12767928,12736244,12698369,12663490,12477932,12243190,12118373,12087096,12009301,11845315,11602586,11181702,11091140,11039896,10978502,10772903,10737788,10661876,10639121,10620603,10501981,10049775,9874241,9644232,9119086,7685903,7539795,7525559,7517385,2559745,1657034,1602151,1373486,16189514,12079506,10922061 7416 NM_003374,AC005200,AC008608,AC025177,AF151097,AJ250032,CH471062,AK095989,AK122953,BC008482,BC071168,BC090042,CR595129,CR595756,CR596809,CR596905,CR598077,CR603026,CR605140,CR606302,CR607580,CR607667,CR611832,CR612086,CR612480,CR612783,CR616336,CR617397,CR619959,CR621984,CR623138,CR623923,CR624238,L06132 NP_003365,AAC24723,AAD54939,CAB58127,EAW62281,EAW62282,EAW62283,EAW62284,EAW62285,EAW62286,AAH08482,AAH71168,AAH90042,AAA61272,P21796,ABM84109,ABM87491 Hs.709372,Hs.519320 GDB:138280 MGC111064|PORIN|PORIN-31-HL protein-coding 1347327 VDAC1LP voltage-dependent anion channel 1-like pseudogene 10049775,7517385 10064 NG_001223,AC142496,AJ012218 GDB:9954953 pseudo 1343029 VDAC1P voltage-dependent anion channel 1 pseudogene 10415331,10049775,8420959,7517385 10065 NG_001224,AF107839,AJ002428 GDB:9954955 pseudo 731822 VDAC2 voltage-dependent anion channel 2 1580863 17353931,8420959,17081983,15952740,15757910,15635413,15489334,15164054,15047060,14739283,12881569,12477932,11197169,10501981,10049775,9615439,7685033,7539795,7517385,1602151,16189514 7417 NM_003375,AF152227,AL390034,AL392111,CH471083,BC000165,BC012883,BC072407,CR456964,CR599041,CR600576,CR600753,CR601332,CR602116,CR604235,CR608755,CR609406,CR611161,CR612173,CR613503,CR617245,CR617818,CR621927,CR626160,CR626355,CR626773,L06328,L08666 NP_003366,AAD40241,CAI40910,CAI40911,CAI40912,CAI40913,CAI40914,EAW54569,EAW54570,EAW54571,EAW54572,EAW54573,EAW54574,AAH00165,AAH12883,AAH72407,CAG33245,AAB59457,AAA60144,AAA60145,P45880,Q5JSD1,Q5JSD2,ABM81860,ABM85023 Hs.355927 GDB:138281 FLJ23841 protein-coding 1352139 VDAC2P voltage-dependent anion channel 2 pseudogene 10830953 54015 NG_000899,AP001346,AP001666 GDB:10796462 pseudo 733844 VDAC3 voltage-dependent anion channel 3 VDAC3 belongs to a group of mitochondrial membrane channels involved in translocation of adenine nucleotides through the outer membrane. These channels may also function as a mitochondrial binding site for hexokinase (see HK1; MIM 142600) and glycerol kinase (GK; MIM 300474) (Rahmani et al., 1998).[supplied by OMIM] 1298632,1580863 17353931,9781040,17683036,16381901,15592455,15489336,15489334,14739283,12477932,11507092,11076863,11042152,10833333,10501981,9804816,9653160,9228078 1298632 7419 NM_005662,AC107885,AF151682,CH471080,AF038962,AK058201,BC056870,CR590872,CR594403,CR599765,CR608716,CR610937,CR612232,CR618206,CR619217,CR620684,CR620835,CR621209,CR621225,CR624748,U90943 NP_005653,AAD49610,EAW63217,EAW63218,EAW63219,AAC39876,AAH56870,AAB93872,Q0JSR8,Q9Y277,CAL38200,CAL38446 Hs.655340,Hs.699301 GDB:9958927 HD-VDAC3 mitochondrial voltage dependent anion channel 3 protein-coding 1344230 VDAC3P voltage-dependent anion channel 3 pseudogene 338454 1349971 VDAC4 voltage-dependent anion channel 4 pseudogene VDAC4 belongs to a family of small, abundant pore-forming proteins found in the outer mitochondrial membrane. These channels are thought to form the major pathway for movement of adenine nucleotides through the outer membrane and may also function as the mitochondrial binding site for hexokinase (see HK1; MIM 142600) and glycerol kinase (GK; MIM 300474) (Blachly-Dyson et al., 1994 [PubMed 7517385]).[supplied by OMIM] 1580863 7517385 7418 NG_007502,S75651 AAD14180,Q36732 GDB:328778 voltage-dependent anion channel 4 pseudo 1344182 VDAC5P voltage-dependent anion channel 5, pseudogene 1580863 7517385 10187 NG_000882,AC117496,S75494 AAD14175,Q36731 GDB:328777 VDAC3 pseudo 1347941 VDI vesicular stomatitis virus defective interfering particle suppression 6275129 7420 GDB:119629 619561 VDR vitamin D (1,25- dihydroxyvitamin D3) receptor This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternative splicing results in multiple transcript variants encoding the same protein. 1331525,1580363,1580364,1580365,1580366,1624354,1580863 10866662,9070272,11891224,2849209,18483761,18483391,18470879,18469698,18419802,18410395,18397302,18389618,18385010,18379465,18365588,18361940,18336098,18334245,18317771,18316854,18312595,18302499,18288556,18285546,18285415,18281521,18279374,18278558,18266602,18261376,18258629,18246496,18231846,18205735,18205531,18203891,18194505,18183598,18161000,18159135,18086783,18086759,18079052,18067661,18062835,18059035,18036039,18003614,17994444,17985306,17962355,17960397,17959356,17943423,17934201,17932346,17914260,17895434,17882409,17855696,17848979,17822494,17785359,17785083,17763859,17716971,17715259,17714831,17704996,17703412,17701399,17662274,17659758,17653830,17650449,17611589,17609203,17598904,17595320,17593089,17592215,17585873,17582391,17569297,17562228,17557252,17551469,16637265,16634022,16629532,16626332,16622736,16614118,16613705,16608396,16604508,16604479,16600714,16596260,16545485,16543149,16541372,16518840,16507161,16507122,16489531,16487505,16464547,16462763,16461080,16453284,16450309,16447061,16425262,16424674,16403954,16397775,16370560,16362455,16362385,17521736,17515815,17506475,17471097,17456792,17452560,17449323,17440943,17433303,17425994,17419705,17418144,17408018,17406766,17388667,17378851,17371163,17363957,17363400,17349151,17337247,17280526,17275471,17264402,17264302,17244366,17243190,17236578,17223867,17213281,17211561,17210993,17202743,17164973,17164384,17157384,17135034,17130574,17129633,17127824,17121851,17119052,17106204,17079137,17064588,17049230,17021946,17019952,17010601,17002582,16999948,16990805,16988190,16965356,16965239,16950800,16946007,16943579,16936639,16916662,16908916,16905645,16905557,16899094,16883526,16883525,16860619,16845795,16835013,16821341,16816928,16815628,16814623,16806146,16804902,16791482,16788818,16769262,16762954,16758971,16758135,16753019,16750418,16738533,16733893,16721822,16713399,16712663,16710576,16708371,16691293,16648751,16640898,17547532,16340785,16322098,16304445,16279845,16269453,16263504,16258158,16252240,16229232,16214913,16213262,16210379,16207705,16207551,16187253,16179274,16159929,16151416,16117875,16105657,16101324,16100768,16097046,16084056,16083553,16076630,16076555,16048257,16030120,16019132,16009674,15977460,15966503,15960894,15958597,15953876,15919723,15917153,15911240,15899948,15897695,15890796,15890193,15887856,15886235,15883634,15876428,15864137,15861040,15861036,15856322,15854747,15850579,15848611,15843209,15824177,15824121,15801025,15781005,15774153,15754350,15744036,15744035,15739035,15735395,15717311,15711606,15709781,15692074,16355284,16350715,15684874,15683428,15663557,15651992,15645083,15592793,15589699,15580566,15577288,15569417,15552843,15549643,15524410,15514891,15503828,15491743,15489334,15478069,15474498,15472188,15459215,15455736,12896855,12895309,12879219,12874698,12874288,12869402,12868700,12847098,12846052,12843190,12843155,12837248,12836289,12829710,12820934,12818464,12814692,12807755,12792298,12786678,12778851,12759877,12753258,12717384,12694466,12674768,12673591,12666703,12656660,12649563,12649542,12608943,12601576,12595908,12588283,12579489,12566913,12555245,12542560,12540499,12532336,12529369,12521655,12490310,12482639,12477932,12477580,12470203,12468277,12460926,12457456,12454321,12446192,12444895,12434167,12433736,12429765,12413773,12404162,12403843,12402975,12391072,12375338,12369780,12369133,12363051,12360016,12324918,12237325,12219967,12211444,12203138,12200969,12195069,12192493,12181642,12174912,9212063,9115274,9005998,8961271,8889548,8675579,8622969,8392085,8381803,8125298,8106618,7828346,2835767,2177843,2174914,1850412,1662663,1652893,1324736,1314167,16545013,12612084,10748178,9920895,15829977,11278756,15213514,15213319,15210908,15205858,15187348,15145445,15141734,15141345,15129811,15108066,15104566,15083213,15083068,15067191,15066918,15066214,15065089,15064717,15061984,15057510,15050735,15040830,15037631,15012617,15009617,14999525,14997007,14991752,14963917,14749534,14748937,14746673,14731356,14727381,14725686,14719475,12162507,12154394,12150447,12147248,12145331,12111344,12096841,12089346,12087029,12086963,12073153,12071154,12064837,12053022,12040821,12037619,12036952,12036913,12018632,12016463,12016314,12003670,11991950,11991441,11984699,11980721,11979895,11972530,11972301,11956476,11942896,11920955,11918709,11918225,11914750,11913978,11910656,12173074,12169981,11909970,11898916,11887173,11846330,11834737,14718481,14714273,14693733,14693728,14691685,14688157,14665637,14642064,14641002,14634546,14597850,14584884,14574802,14572874,14557853,14530911,14528100,14527848,14527840,14527203,14521715,14505233,12969965,12968672,12960019,12958689,12957667,12927786,12915669,12914574,12905734,12903041,12899513,15448105,15381817,15381816,15375600,15373974,15368470,15359111,15358739,15332393,15331595,15328186,15316869,15316258,15315818,15308833,15298953,15295697,15282200,15282199,15267201,15252846,15249124,15246940,15241822,15238985,15225828,15225773,15225772,11808760,11800328,11789558,11786968,11782643,11779241,11776070,11751444,11744805,11720436,11719366,11689145,11684548,11684540,11679916,11678976,11598396,11579931,11552708,11532853,11522087,11498736,11498733,11498732,11489753,11489147,11484168,11461072,11456232,11445000,11440415,11423686,11389055,11383910,11359741,11358960,11355046,11353946,11335187,11316004,11306745,11257727,11251690,11250942,11248649,11230734,11224872,11204438,11174470,11167636,11136533,11134121,11092401,11049814,11043509,11033842,11028447,10967105,10678179,10406465,10330159,10037600,9878542,9653119,9632709,9495519,9373149,9360557,9267036 1331525,1580363,1580364,1580365,1580366,1624354 7421 NM_001017535,AB002168,AC004466,AC121338,AY342401,AY427834,AY827087,CH471111,AF026260,AK024830,AK225844,BC033465,BC060832,NM_000376,BM908433,BQ002808,BX355584,CF138099,J03258,M65208,X67482 NP_000367,NP_001017535,BAA83389,AAP88938,AAR10771,AAV85448,EAW57959,EAW57960,EAW57961,EAW57962,EAW57963,EAW57964,AAB95155,AAH60832,AAA61273,AAA61274,CAA47824,P11473,Q5PSV3,Q5U626,Q6T928,Q6ZPC2,ABZ92194 Hs.524368 GDB:120487 NR1I1 vitamin d (1,25-dihydroxyvitamin d3) receptor 1643456,2289507 BW74_H,BW448_H protein-coding 731072 VEGFA vascular endothelial growth factor A This gene is a member of the PDGF/VEGF growth factor family and encodes a protein that is often found as a disulfide linked homodimer. This protein is a glycosylated mitogen that specifically acts on endothelial cells and has various effects, including mediating increased vascular permeability, inducing angiogenesis, vasculogenesis and endothelial cell growth, promoting cell migration, and inhibiting apoptosis. Elevated levels of this protein is linked to POEMS syndrome, also known as Crow-Fukase syndrome. Mutations in this gene have been associated with proliferative and nonproliferative diabetic retinopathy. Alternatively spliced transcript variants, encoding either freely secreted or cell-associated isoforms, have been characterized. There is also evidence for the use of non-AUG (CUG) translation initiation sites upstream of, and in-frame with the first AUG, leading to additional isoforms. 634255,1580547,1580557,1580558,1580561,1580564,1580565,1580566,1580567,1580568,1580569,1580570,1580571,1580572,1580573,1580578,1580863,1334463,1626621,2292019 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634255,1580547,1580557,1580558,1580561,1580564,1580565,1580566,1580567,1580568,1580569,1580570,1580571,1580572,1580573,1580578,1334463,1626621,2292019 7422 NM_001025366,NM_003376,NM_001025367,NM_001025368,NM_001033756,NM_001025369,NM_001025370,AF095785,AF437895,AL136131,CH471081,M63978,S85224,AB021221,AB209485,AF022375,AF024710,AF062645,AF091352,AF214570,AF323587,AF430806,AF486837,AJ010438,AK056914,AK125666,AY047581,AY263145,AY500353,AY766116,BC011177,BC019867,BC058855,BC065522,BQ880667,BU153227,CN256173,CR592173,CR614384,CX756573,DQ229900,M27281,M32977,S85192,X62568 NP_001020537,NP_003367,NP_001020538,NP_001020539,NP_001028928,NP_001020540,NP_001020541,AAD04918,AAL27630,CAC19512,CAC19513,CAC19516,CAM28207,EAX04227,EAX04228,EAX04229,EAX04230,EAX04231,EAX04232,EAX04233,EAX04234,EAX04235,AAA36804,AAC63101,BAA78418,BAD92722,AAC63143,AAC16730,AAD55345,AAF19659,AAQ14857,AAL27435,AAM03108,CAA09179,CAC19515,AAK95847,AAP86646,AAV34601,AAH11177,AAH65522,ABB58912,AAA36807,AAA35789,AAC63102,CAA44447,P15692,Q59FH5,Q6WZM0,Q71S09,Q96FD9,Q9UNS8 Hs.73793 GDB:132244 MGC70609|VEGF|VEGF-A|VPF vascular endothelial growth factor protein-coding 1343221 VEGFB vascular endothelial growth factor B 1625708,1580574,1580863 8919691,8637916,9684805,17082651,16839256,16616187,16570043,15489334,15009103,12652295,12477932,11122379,10409677,9751730,9365524,8702615 1625708,1580574 7423 NM_003377,AF468110,AP001453,CH471076,CS067228,EU332866,U43370,BC008818,CR602359,U43368,U43369,U48801,U52819 NP_003368,AAL79000,AAL79001,EAW74221,EAW74222,EAW74223,CAI84577,ABY87555,AAA91464,AAH08818,AAA91462,AAA91463,AAB06274,AAC50721,P49765,Q7LAP4,Q8TEV2,Q9UMT6,ABM83559,ABM86796,ABM86798 Hs.78781 GDB:1316852 VEGFL|VRF protein-coding 732214 VEGFC vascular endothelial growth factor C The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family, is active in angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-3 receptors. Only the fully processed form can bind and activate VEGFR-2 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor D. 1580863,1334463 8617204,9684805,18261985,18190720,18061373,18057235,18035072,18006056,17970036,17935478,17931169,17926187,17686546,17676294,17641542,17640671,17465468,17409493,17353919,17230534,17216674,17203176,17094484,16964283,16924525,16879394,16874878,16816121,16755294,16584091,16570043,16525666,16525637,16525158,16474989,16467091,16465426,16322297,16299237,16116610,16049374,15943035,15880525,15870511,15756450,15668894,15623620,15590642,15489334,15484296,15340161,15272284,15240540,15173661,15151619,15040017,15009103,14966375,14760756,14744769,14676121,14568550,14534690,12963694,12915657,12819011,12792749,12594815,12477932,12471041,12469214,12452004,12388793,12213723,12168824,11999550,11920583,11877295,11332691,9247316,9233800,8700872,8653826,8612600,16189514,12810700 1334463 7424 AC092673,NM_005429,AC093801,AF020393,CH471056,CQ858314,CS023800,CS037003,CS067230,CS148543,CS172365,CS172813,BC035212,BC063685,BF528469,CR541897,U43142,U58111,X94216 NP_005420,EAX04717,CAH23418,CAI59112,CAI63838,CAI84578,CAJ29667,CAJ32890,CAJ32903,AAH35212,AAH63685,CAG46695,AAA85214,AAB02909,CAA63907,P49767,Q6FH59,ABM82088,ABM84271,ABM85407,ABM87665 Hs.435215 GDB:3890883 Flt4-L|VRP protein-coding 1354153 VENTX VENT homeobox homolog (Xenopus laevis) This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. 1580863 12477932,11549314,10790436 27287 NM_014468,AF288039,AL445199,AL592071,CH471211,AF068006,BC108915,BC108916 NP_055283,AAK83043,EAW61323,AAC82375,AAI08916,AAI08917,O95231,ABZ92230 Hs.125231 GDB:11502681 HPX42B|MGC119910|MGC119911|NA88A|VENTX2 protein-coding 1602836 VENTXP1 VENT homeobox (Xenopus laevis) pseudogene 1 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 11549314,10790436 139538 NR_001559,XR_042160,AC079178,AF164963 P0C5K6 Hs.447377 NA88A|VENTX2P1 pseudo 1604697 VENTXP2 VENT homeobox (Xenopus laevis) pseudogene 2 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 347975 NG_002909,AL355481 VENTX2P2 pseudo 1606649 VENTXP3 VENT homeobox (Xenopus laevis) pseudogene 3 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 349814 NG_002911,AC128678 VENTX2P3 pseudo 1606955 VENTXP4 VENT homeobox (Xenopus laevis) pseudogene 4 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 152101 NG_002906,AC098615 VENTX2P4 pseudo 1606061 VENTXP5 VENT homeobox (Xenopus laevis) pseudogene 5 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 442384 NG_005091,AC015779 pseudo 1606058 VENTXP6 VENT homeobox (Xenopus laevis) pseudogene 6 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 552879 NG_005090,AC027018,AC100784 pseudo 1352191 VENTXP7 VENT homeobox (Xenopus laevis) pseudogene 7 Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the Vent homeobox gene family. 11549314,7518789 391518 Q14560 NR_002311,AC104183,X74864 CAA52857,Q14560 Hs.543226 HPX42|VENTX1 pseudo 1353776 VEPH1 ventricular zone expressed PH domain homolog 1 (zebrafish) 15761153,14702039,12477932,11214970 79674 AC020630,AC092944,CH471052,AB051479,AK022666,AK027625,AL713656,BC026235,BC042159,BC057999,BC078142,BC101660,BC111017,BC113555,NM_024621 NP_078897,EAW78705,EAW78706,EAW78707,BAB21783,BAB14165,BAB55243,CAD28465,AAH42159,AAH57999,AAI01661,AAI11018,AAI13556,Q14D04 Hs.658046 FLJ12604|KIAA1692|MELT|MGC111426|MGC126709|MGC142115 protein-coding 1317608 VEZF1 vascular endothelial zinc finger 1 Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein. See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM] 1580863 8035792,11504723,9865462 7716 NM_007146,AC015813,CH471109,AA195154,AK058024,BG718897,BX648862,CR609476,D28118 NP_009077,EAW94494,EAW94495,EAW94496,EAW94497,BAA05663,Q14119,AAI52727 Hs.705368 GDB:384070 DB1|ZNF161 protein-coding 1626256 VEZF1L1 vascular endothelial zinc finger 1-like 1 647319 NG_006550,AC092966 ZNF161L1 pseudo 1602106 VEZT vezatin, adherens junctions transmembrane protein 16344560,16199027,14702039,12477932,12126233,11080149,9373149,8125298 55591 NM_017599,AC084879,AC127165,CH471054,AF216644,AF225417,AF277625,AK001338,AK225303,AK225356,AL133113,AL137497,BC014443,BC028597,BC040845,BC064939,BI835735,BQ023048,CR620366,DB136255 NP_060069,EAW97524,EAW97528,EAW97529,EAW97530,EAW97531,EAW97532,EAW97533,EAW97534,EAW97535,EAW97536,AAG38485,AAG09719,EAW97525,EAW97526,EAW97527,AAG38514,BAA91634,CAB61416,CAB70772,AAH64939,Q6P1Q3,Q9HBM0 Hs.24135 DKFZp761C241|VEZATIN protein-coding 69439 VGF VGF nerve growth factor inducible This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. 1580863 10381005,17440014,15706611,17684500,16481598,12477932,9373149,9344675,9084409,8125298 7425 NM_003378,AC004876,CH471197,Y09938,Y12661,AK225839,BC006217,BC036537,BC044212,BC063835 NP_003369,AAD45830,EAW50201,CAA73210,AAH44212,AAH63835,O15240,Q05BJ3,Q9UDW8 Hs.587325 GDB:6380589 protein-coding 1352400 VGLL1 vestigial like 1 (Drosophila) 1580863 10518497,15772651,15489334,12477932 51442 CR625530,AC000115,CH471150,Z97632,AF137387,BC000045,BC003362,CR590059,CR595192,CR602014,CR607030,CR608272,CR608710,CR609159,CR610361,CR611631,CR612495,CR614664,CR619873,NM_016267 Q5H915,Q99990,Q99991,ABM81854,ABW03331,NP_057351,AAB46354,AAB46355,EAW88466,EAW88467,CAB10728,CAI42401,CAI42402,AAF13149,AAH00045,AAH03362 Hs.496843 TDU|VGL1 protein-coding 1323604 VGLL2 vestigial like 2 (Drosophila) 14762206,14702039,14516696,12617818,12477932,12376544 245806 NM_153453,NM_182645,CH471051,Z98880,AJ578053,AK096878,AY056583,BC069316,BC100798,BC100799,BC118545,BC118622 NP_703154,NP_872586,EAW48210,EAW48211,CAI42376,CAI42377,CAE17331,BAC04881,AAL17720,AAH69316,AAI00799,AAI00800,AAI18546,AAI18623,Q5H8X9,Q8N8G2,AAI56483 Hs.99324 VGL2|VITO1 protein-coding 1602804 VGLL3 vestigial like 3 (Drosophila) 15146197,14702039,12477932,12376544,11819507 389136 AC108709,CH471110,AA455617,AF099505,AI379920,AK095826,BC017383,BC062478,BC094780,BX369995,BX391744,CF995043,CN287582,CR600157,CR605157,CR936700,NM_016206 NP_057290,EAW68870,EAW68871,AAF00091,AAH62478,AAH94780,A8MV65,Q6P652,Q9UKZ7 Hs.435013,Hs.606507 DKFZp686O1845|FLJ38507|VGL-3|VGL3 protein-coding 1323223 VGLL4 vestigial like 4 (Drosophila) 1580863 15489334,15140898,14702039,12477932,8590280,16189514 9686 NM_014667,AC022001,AC090939,CH471055,AK126479,AK130542,BC000763,BC001514,BC003038,CR602971,CR614960,D50911 NP_055482,EAW64098,EAW64099,EAW64100,EAW64101,EAW64102,EAW64103,EAW64104,EAW64105,EAW64106,BAC85375,AAH01514,AAH03038,BAA09470,Q0H0I4,Q0H0I7,Q14135 Hs.373959 KIAA0121|VGL-4 protein-coding 737311 VHL von Hippel-Lindau tumor suppressor Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. 1580368,1580369,1580371,1358257,1559297,1580561 7660122,12169691,7660130,10353251,15824735,7604013,18389622,18285459,18223282,18212329,18162774,18085246,18079682,18072267,17998064,17997830,17967880,17954272,17936701,17919893,17912253,17906660,17898043,17846357,17825299,17786294,17696210,17688370,17661816,17639058,17568584,17555795,17526729,17486080,17450132,17438007,17296901,17264095,17255293,17245122,17200123,17102080,17101696,17069461,17060462,17006605,16983094,16951198,16892044,16884327,16856496,16849532,16769276,16768548,16707008,16678111,16669786,16506218,16503656,16407835,16314641,16278378,16261165,14691554,14667507,14636579,14604959,14556007,14531799,14517280,14506252,13985160,13679920,12937142,12912922,12844285,12839965,12821933,12810083,12781449,12767066,12743597,12697815,12692265,12684640,12682336,12682018,12673678,12644949,12640117,12609565,12538644,12511881,12510195,12490973,12482756,12477932,12468553,12460920,12415268,12414898,12393546,12378530,12374282,12351678,12209156,12114495,12114475,12097293,12086860,12050673,12048197,12036906,12032852,12016154,12004076,12000816,11990703,11987242,11986208,11921283,11908068,11865075,11840338,11749004,11739384,11709017,11641274,11517223,11504942,11483638,11384984,11292862,10973499,10944113,10850420,10823831,10635329,10627136,10535940,10533030,16170373,16144691,16142346,16107702,15998523,15985433,15962286,15932632,15921386,15893810,15849821,15824109,15809750,15805242,15777842,15750626,15611064,15608669,15607616,15604095,15601820,15572213,16210343,16208141,15530850,15467305,15448019,15300849,15162797,15122713,14985465,14963040,14767570,14729622,14726398,14722919,10523847,10449727,10408776,10364675,10205047,9880225,9829912,9829911,9751722,9671762,9663592,9651579,9399847,9271438,9156047,9122164,8956040,8931697,8863170,8825918,8765323,8733131,8730290,8700833,8674032,8634692,8592333,8550742,8522307,8493574,8270255,8183553,8069849,7987327,7987306,7829101,7759077,7728151,7690964,7566098,7563486,1673491,17353931,15721254 1580368,1580369,1580371,1358257,1559297,1580561 7428 NM_198156,AC034193,AF010238,CH471055,U54612,X96489,AA361862,AF088066,AW022843,BC058831,BG284971,BG288777,BG914051,BM564781,BX100230,L15409,NM_000551 P40337,Q6PDA9,NP_000542,NP_937799,AAB64200,EAW64064,EAW64065,EAW64066,EAW64067,EAW64068,AAA98614,CAA65343,AAH58831 Hs.517792 GDB:120488 HRCA1|RCA1|VHL1 von hippel-lindau syndrome homolog protein-coding 1603820 VHLL von Hippel-Lindau tumor suppressor-like 14757845,10475385 391104 NM_001004319,AL589685,AY494836,BC130596,BC130598 NP_001004319,AAS48916,AAI30597,AAI30599,Q6RSH7 Hs.532378 VLP protein-coding 1349598 VHLP VHL pseudogene 10475385 27444 GDB:10796090 1316011 VIL1 villin 1 This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. 1580863 17353931,2846586,17847007,17182858,16189514,15576363,15342783,15272027,12937273,12477932,12445810,11500485,9373149,8125298,6893424,3793760,3510866,3453110,2892781,1961750 7429 NM_007127,A07400,AC021016,AC073838,CH471063,CS223375,AK223398,BC017303,X04657,X12901,A14103 NP_009058,CAA00664,AAY14886,EAW70619,EAW70620,CAJ46927,BAD97118,AAH17303,CAA28355,CAA31386,P09327,Q53F91,Q53S11,Q96AC8,CAA01148 Hs.654595 GDB:120531 D2S1471|VIL protein-coding 1347824 VILL villin-like The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. 737633,1580863 9179494,16921170,15489334,12477932 737633 50853 NM_015873,AC105752,AC144536,CH471055,AB209574,AL702875,BC000243,BC004300,CR591344,D88154 NP_056957,EAW64506,BAD92811,AAH00243,AAH04300,BAA21668,O15195,Q59F86,ABM83469,ABM86680 Hs.103665 protein-coding 733128 VIM vimentin Along with the microfilaments (actins) and microtubules (tubulins), the intermediate filaments represent a third class of well-characterized cytoskeletal elements. The subunits display a tissue-specific pattern of expression. Desmin (MIM 125660) is the subunit specific for muscle and vimentin the subunit specific for mesenchymal tissue.[supplied by OMIM] 1580863 12210485,2251132,1918147,1722806,1478967,8822624,8381971,7842474,10491200,1516138,2203542,10845700,8997639,8424456,2201025,2059552,1991513,1812754,1726101,11160829,12639940,16189514,14600259,11278417,15383276,11375989,14743216,12358155,11889032,11827972,16130169,9150946,18219106,17960581,17719575,17663720,17652163,17585878,17476115,17403663,17289402,17083913,17081983,17056548,17050693,17031402,16964243,16912072,16901892,16703512,16568083,16565220,16487365,16365157,16298568,16270034,15846844,15777792,15592455,15556930,15489334,15456890,15255035,15231822,15164054,14996095,14762106,14760703,14702039,14595690,12906105,12829607,12761892,12750294,12727854,12706117,12600646,12483219,12477932,12466525,12429849,12366696,12194205,12169273,12084347,12003790,11911279,11895474,11802775,11744725,11514563,11441066,11423904,11243787,11172097,11082283,10887173,10852918,10852826,10613270,10469173,9565595,9373149,9261168,9190204,9188594,9175763,8523563,8125298,7983050,7925640,7644499,3792301,3661560,3467175,3371665,3027087,2806127,2472876,2323579 7431 NM_003380,AL133415,CH471072,EF445046,M14144,M18895,AF328728,AK056766,AK091813,AK093924,AK097336,AK098444,AK222482,AK222507,AK222602,AK290643,BC000163,BC030573,BC031031,BC066956,CR407690,CR590855,CR591166,CR593082,CR593122,CR593139,CR593157,CR593764,CR595631,CR595804,CR596331,CR596422,CR596714,CR597359,CR622549,CR623317,CR623356,CR624853,CR625446,M25246,X16478,X56134,Z19554,CR597703,CR597938,CR598442,CR599648,CR599707,CR600582,CR600607,CR601396,CR601844,CR602002,CR602499,CR602711,CR604328,CR604633,CR604958,CR605908,CR606048,CR607117,CR608196,CR608479,CR608699,CR608919,CR609103,CR609435,CR610054,CR611833,CR612980,CR614482,CR615569,CR616523,CR616791,CR617011,CR617507,CR617642,CR617845,CR618218,CR618852,CR619643,CR620637,CR620780,CR620841,CR620869,CR621379,CR621958,CR621990,CR622001,CR622265,CR622417 NP_003371,CAB87963,CAI39486,EAW86215,EAW86216,ACA06100,ACA06101,ACA06102,ACA06103,AAA61279,AAA61281,AAN09720,BAB71275,BAC04253,BAC05002,BAD96202,BAD96227,BAD96322,BAF83332,AAH00163,AAH30573,AAH66956,CAG28618,AAA61282,CAA34499,CAA39600,CAA79613,P08670,Q53HU8,Q5JVT0,Q8N9S6 Hs.642813 GDB:119630 FLJ36605 protein-coding 1348931 VIP vasoactive intestinal peptide The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. 1580863 10096039,4035357,8389448,18383383,18234640,17804556,17683807,17466601,17448763,17430175,17430171,17275031,17175032,17003842,16965837,16893891,16728406,16713569,16697281,16226889,16189514,15489334,15247290,15169929,15155712,15093699,15009665,14574404,12754213,12670727,12477932,12409228,12225791,12220738,11884208,11713978,11027527,10801840,9454823,9313778,8146174,6571696,6139527,3899557,3748844,3654650,3202886,3025882,2995945,2987932,2839091,2434617,1863695,1318039,807467,10527688,10933622,10446313,1617429,8074647 7432 NM_194435,AL133356,CH471051,L00157,L00158,M11553,M11554,M14623,M32162,M33027,M36610,AK291959,BC009794,CR593090,NM_003381,M36634,M54930 NP_003372,NP_919416,CAI21764,CAI21765,CAI21766,EAW47724,EAW47725,AAA61289,AAA61284,AAA61288,AAA61285,AAA69515,AAA61286,BAF84648,AAH09794,AAA61287,AAA63268,P01282,Q5TCY7 Hs.53973 GDB:120490 MGC13587|PHM27 protein-coding 735637 VIPR1 vasoactive intestinal peptide receptor 1 This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. 1580863 8179610,8390245,8389448,18383379,18000164,17883247,17651798,17611633,17077178,16934434,16888207,16888206,16888167,16888162,16554109,16552823,16520374,16037943,15932876,15670850,15451021,15247290,15171718,14702039,14599709,12690118,12477932,12446722,12429744,12225791,12133828,12094871,12050216,11981043,11930171,11859928,11859927,11834941,11812772,11812005,11160313,11072126,11027527,10867004,9973484,9928020,9927997,8886855,8639654,7917790,7818527,7708752,807467,8074647 7433 NM_004624,AB065669,AC092047,CH471055,U11079,U11087,AK056819,AK123943,AK126759,BC064424,EF577396,L13288,L20295,X75299 NP_004615,BAC05895,EAW64649,EAW64650,EAW64651,EAW64652,AAB60362,AAH64424,ABQ52416,AAA36805,AAA36802,CAA53046,P32241,Q6P2M6 Hs.348500 GDB:128589 FLJ41949|HVR1|II|PACAP-R-2|RDC1|VAPC1|VIPR|VIRG|VPAC1|VPCAP1R protein-coding 1351062 VIPR2 vasoactive intestinal peptide receptor 2 Vasoactive intestinal peptide (VIP; MIM 192320) and pituitary adenylate cyclase activating polypeptide (PACAP; MIM 102980) are homologous peptides that function as neurotransmitters and neuroendocrine hormones. While the receptors for VIP and PACAP share homology, they differ in their substrate specificities and expression patterns. See VIPR1 (MIM 192321) and ADCYAP1R1(MIM 102981).[supplied by OMIM] 1580863 7811244,18383383,17883247,17257640,17077178,16934434,16888203,16572459,16552823,16500728,15489334,15302876,15090046,12690205,12477932,12150135,11728828,11351046,11193874,11160313,11072126,10801840,10764955,10481065,9629281,9541464,9454823,8938447,8933357,8146174,7733904,8757618 7434 NM_003382,AC004863,AC007269,AF027390,CH236954,CH471149,L40764,Y18423,AK131406,BC010569,BT007118,CA449700,CR610555,L36566,U18810,X95097 NP_003373,AAC09171,EAL23936,EAL23937,EAX04596,AAC41756,CAB41899,BAD18553,AAH10569,AAP35782,AAC37569,AAC50872,CAA64474,P41587,Q53Y09,Q6ZN22,Q71V81,Q9UCW0,ABM92188,ABM84658 Hs.654505 GDB:335025 FLJ16511|VPAC2|VPCAP2R protein-coding 1352794 VIS1 viral integration site 1 1682866 7435 U56440 GDB:133725 1606258 VISA virus-induced signaling adapter Double-stranded RNA viruses are recognized in a cell type-dependent manner by the transmembrane receptor TLR3 (MIM 603029) or by the cytoplasmic RNA helicases MDA5 (MIM 606951) and RIGI (ROBO3; MIM 608630). These interactions initiate signaling pathways that differ in their initial steps but converge in the activation of the protein kinases IKKA (CHUK; MIM 600664) and IKKB (IKBKB; MIM 603258), which activate NFKB (see MIM 164011), or TBK1 (MIM 604834) and IKKE (IKBKE; MIM 605048), which activate IRF3 (MIM 603734). Activated IRF3 and NFKB induce transcription of IFNB (IFNB1; MIM 147640). For the TLR3 pathway, the intermediary molecule before the pathways converge is the cytoplasmic protein TRIF (TICAM1; MIM 607601). For RIGI, the intermediary protein is mitochondria-bound IPS1 (Sen and Sarkar, 2005 [PubMed 16239922]).[supplied by OMIM] 16177806,12761501,17911629,17093192,16984921,16964243,16858409,16731946,16707574,16585524,16341674,16301520,16239922,16153868,16127453,16125763,15489334,14702039,12477932,11780052,10574462 57506 NM_020746,AL109804,AL353194,CH471133,CQ871280,AB033097,AB097003,AB232371,AK023799,AK123956,AK130992,AK291785,AL833736,BC044952,BM834250,BX649084,CR613265,DQ167126,DQ174270,DQ181928 NP_065797,CAI18851,EAX10481,EAX10482,CAH56821,BAA86585,BAC77356,BAE79738,BAB14684,BAC85734,BAC85473,BAF84474,AAH44952,ABA54890,AAZ80417,ABA19229,Q2HWT5,Q7Z434 Hs.646283 CARDIF|DKFZp666M015|FLJ27482|FLJ41962|IPS-1|KIAA1271|MAVS protein-coding 1353199 VIT vitrin 14702039,12975309,12477932,12388743,10830112,9847074 5212 Q6UXI7,Q9UDN0 NM_053276,AC007363,CH471053,AF063833,AK056772,AL832679,AY358338,BC061519,BC128260 NP_444506,AAF19243,EAX00416,EAX00417,EAX00418,EAX00419,AAL18263,BAB71279,AAQ88704,AAH61519,AAI28261,Q6UXI7,Q9UDN0 Hs.137415 GDB:9835796 DKFZp313L1517|MGC149746|MGC70561 protein-coding 1604306 VKORC1 vitamin K epoxide reductase complex, subunit 1 Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. 15358623,15276181,14765195,14765194,12975309,12477932,12384421,11154138,16676068,16611750,16634640,16611310,16580898,16549638,16513444,16432637,16424822,16420583,16270630,16270629,16201835,16141794,16030016,15978113,15972850,15947090,15930419,15888487,15883587,15790782,15716279,15630486,15489334,18480003,18466315,18466099,18370846,18322281,18305455,18281915,18252229,18240904,18218987,18183038,18034619,18034618,18030307,17995970,17989110,17961434,17899045,17883699,17883698,17849045,17764537,17721328,17666014,17596133,17549303,17510308,17413769,17391071,17329985,17325732,17301738,17192772,17189218,17164330,17111199,17110455,17049586,17048007,17031720,17015052,16890578,16879214,16847429,16815313,16700826,16677080,17653141 79001 NM_206824,NM_024006,AC135050,AY587020,CH471192,AF176924,AK125618,AK129513,AK289790,AY423044,AY466113,AY521634,BC000828,BC002911,BI822140,CD249837,CR623242 NP_996560,NP_076869,AAS83106,EAW52165,EAW52166,EAW52167,EAW52168,AAQ13668,BAC86222,BAF82479,AAR82914,AAR28759,AAS01052,AAH02911,Q2L4Q9,Q6ZNK7,Q6ZUK0,Q9BQB6 Hs.324844 EDTP308|FLJ00289|IMAGE3455200|MGC2694|MST134|MST576|VKCFD2|VKOR protein-coding 1353419 VKORC1L1 vitamin K epoxide reductase complex, subunit 1-like 1 1580863 15489334,14765194,14702039,12477932 154807 AK001747,AK055860,AK124688,AK289522,AL137548,AY423045,BC007465,BC014249,BC027734,BX647631,CR602129,CR627471,NM_173517,AC073261,AC093485,AC093582,CH471140,AK000750 BAF82211,AAR82915,AAH14249,AAH27734,CAH10673,Q6PJK5,Q8N0U8,NP_775788,EAX07952 Hs.427232 DKFZp762H0113 protein-coding 1604423 VKORC1P1 VKORC1 pseudogene 1 414355 NG_004115,AC112492 pseudo 1604422 VKORC1P2 VKORC1 pseudogene 2 414357 NG_004116,AL357373 pseudo 733926 VLDLR very low density lipoprotein receptor 1580813,737740,1625573,1625579,1625568,1625577,1625575,1625570,737739,1358346,1580863,1358468 10380922,7550352,15082773,18326629,18277139,18056683,18043714,18039658,17936586,17890782,17854420,17472347,16384981,16080122,15953542,15950998,15950758,15863833,15164053,15064754,14702039,12857919,12824284,12363388,12169628,12167620,11931574,11342683,11266465,10629142,10571241,10571240,10391209,9630508,9132912,8294473,8128315,8069294,8020981,7828550,7797576,7592875,12899622,12670700 1580813,737740,1625573,1625579,1625568,1625577,1625575,1625570,737739,1358346,1358468 7436 BC142653,CR599863,CR620590,D16493,D16494,L20470,L22431,S73849,BC136562,NM_003383,NM_001018056,AL450467,CH471071,D16532,DQ067198,AA758887,AB208822,AK092381,AK095744,AK289527 AAI36563,AAI42654,BAA03945,BAA03946,AAA53684,AAA61344,AAB31735,P98155,Q59HD7,Q5VVF5,Q8NAN7,NP_003374,NP_001018066,CAH72452,CAH72453,CAH72454,CAH72455,EAW58804,EAW58805,EAW58806,EAW58807,EAW58808,BAA03969,AAY46157,BAD92059,BAC03874,BAF82216 Hs.370422 GDB:219649 FLJ35024|VLDLRCH 1643245 BW137_H protein-coding 1606370 VMAC vimentin-type IF-associated coiled-coil protein 14985129,12477932 400673 NM_001017921,AC104532,CH471139,AK124162,BC110802 NP_001017921,EAW69129,EAW69130,AAI10803,Q2NL98 Hs.620821 MGC131658 protein-coding 1344797 VMD1 vitelliform macular dystrophy, atypical 7438 GDB:119631 1605251 VMO1 vitelline membrane outer layer 1 homolog (chicken) 15489334,15340161,12975309,12477932 284013 NM_182566,AC109333,CH471108,AF521892,AY359099,BC038467,BC104194,BC104195 NP_872372,EAW90410,EAW90411,AAP80865,AAQ89457,AAH38467,AAI04195,AAI04196,Q3SXP2,Q7Z5L0,Q8IUY1 Hs.122561 ERGA6350|MGC125880|MGC125881|PRO21055 protein-coding 1318565 VN1R1 vomeronasal 1 receptor 1 Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. 1580863 17627382,15489334,14702039,12826614,12477932,12044878,11163270,11116092,10973240 57191 NM_020633,AB083606,AC004076,AY312477,AY312478,AY312479,CH471135,AF255342,AF302903,AK094452,BC095508,BG167434 NP_065684,BAB89319,AAP85612,AAP85613,AAP85614,EAW72503,AAG10698,AAG22545,AAH95508,Q9GZP7 Hs.388810,Hs.677423 V1RL1|VNR19I1|ZVNH1|ZVNR1 protein-coding 1352823 VN1R10P vomeronasal 1 receptor 10 pseudogene 387316 1342547 VN1R11P vomeronasal 1 receptor 11 pseudogene 387317 1348597 VN1R12P vomeronasal 1 receptor 12 pseudogene 387321 1348444 VN1R13P vomeronasal 1 receptor 13 pseudogene 387322 1348260 VN1R14P vomeronasal 1 receptor 14 pseudogene 387320 1353808 VN1R2 vomeronasal 1 receptor 2 1580863 12826614,12477932,12123587,12044878 317701 AF370359,AY312480,AY312481,AY312482,CH471135,NM_173856,AB083607,AC092070,CS248074,BC130356,BC130358 AAM83034,AAP85615,AAP85616,AAP85617,NP_776255,BAB89320,EAW72126,CAJ56564,AAI30357,AAI30359,Q8NFZ6 Hs.553684 V1RL2 protein-coding 1313180 VN1R3 vomeronasal 1 receptor 3 1580863 12826614,12477932,12123587 317702 NG_005664,AC002519,CH471192,AF336873,BC107073,BC107074 EAW52107,AAK21299,AAI07074,AAI07075,Q3KNV6,Q9BXE9 Hs.257746 FKSG46|MGC129709|MGC129710|V1RL3|V1RL3p pseudo 1347041 VN1R4 vomeronasal 1 receptor 4 15489334,12826614,12477932,12123587,12044878 317703 NM_173857,AB083609,AC092070,AY114733,AY312485,AY312486,AY312487,AY312488,CS248620,BC104935,BC104939 NP_776256,BAB89322,AAM66754,AAP85618,AAP85619,AAP85620,AAP85621,CAJ56825,AAI04936,AAI04940,Q7Z5H5 Hs.553685 V1RL4 protein-coding 1352631 VN1R5 vomeronasal 1 receptor 5 15489334,12826614,12477932,12123587,12044878 317705 NM_173858,AB083608,AC104335,AY114735,AY312489,AY312491,CH471148,BC126341,BC126367 NP_776257,BAB89321,AAM66756,AAP85622,AAP85623,EAW77177,AAI26342,AAI26368,Q7Z5H4 Hs.553686 V1RL5 protein-coding 1349927 VN1R6P vomeronasal 1 receptor 6 pseudogene 317700 1349341 VN1R7P vomeronasal 1 receptor 7 pseudogene 11116092,10830953 54042 NG_002218,AF253314,AP003900 ORLP1|PHB4C5 pseudo 1349116 VN1R8P vomeronasal 1 receptor 8 pseudogene 10830953 54041 NG_002647,AL050302,AL078475 ORLP2 pseudo 1344481 VN1R9P vomeronasal 1 receptor 9 pseudogene 317691 NG_002459,AC006548 VN1R22-1P pseudo 1625461 VN2R10P vomeronasal 2 receptor 10 pseudogene 100033398 NG_006059,AC009139 pseudo 1625460 VN2R11P vomeronasal 2 receptor 11 pseudogene 100033399 NG_006060,AC016588 pseudo 1625459 VN2R12P vomeronasal 2 receptor 12 pseudogene 100033400 NG_006061,AC104527 pseudo 1625458 VN2R13P vomeronasal 2 receptor 13 pseudogene 100033401 NG_006062,AC008543 pseudo 1625457 VN2R14P vomeronasal 2 receptor 14 pseudogene 100033402 NG_006063,AC008770 pseudo 2291771 VN2R15P vomeronasal 2 receptor 15 pseudogene 100033403 NG_007173,AC008770 pseudo 1625841 VN2R16P vomeronasal 2 receptor 16 pseudogene 100033404 NG_006108,AC010422 pseudo 1625095 VN2R17P vomeronasal 2 receptor 17 pseudogene 649186 NG_006107,AB065923,AC006116 BAC06138,Q8NGA3 pseudo 2291770 VN2R18P vomeronasal 2 receptor 18 pseudogene 100033406 NG_007172,AC006116 pseudo 1625456 VN2R19P vomeronasal 2 receptor 19 pseudogene 100033407 NG_006064,AC008969 pseudo 1606395 VN2R1P vomeronasal 2 receptor 1 pseudogene 12044878 344760 NG_006066,AB065664,AB083610,AC067721 BAC05890,BAB89323,Q8NGV9,Q8TDU1 CASRL1|GPRC2B pseudo 1625455 VN2R20P vomeronasal 2 receptor 20 pseudogene 100033408 NG_006065,AP000474 pseudo 2291769 VN2R21P vomeronasal 2 receptor 21 pseudogene 100127050 AC008770,NG_007174 pseudo 1625468 VN2R2P vomeronasal 2 receptor 2 pseudogene 100033391 NG_006052,AC022096 pseudo 1625467 VN2R3P vomeronasal 2 receptor 3 pseudogene 100033392 NG_006053,AL353729 pseudo 1625466 VN2R4P vomeronasal 2 receptor 4 pseudogene 100033393 NG_006054,AL353791 pseudo 1625465 VN2R5P vomeronasal 2 receptor 5 pseudogene 100033394 NG_006055,AL592525 pseudo 1625464 VN2R6P vomeronasal 2 receptor 6 pseudogene 100033395 NG_006056,AL953854 pseudo 1625463 VN2R7P vomeronasal 2 receptor 7 pseudogene 100033396 NG_006057,BX005195 pseudo 1625462 VN2R8P vomeronasal 2 receptor 8 pseudogene 100033397 NG_006058,AC025861 pseudo 1604409 VN2R9P vomeronasal 2 receptor 9 pseudogene 648315 NG_005898,AP004247 pseudo 1320770 VNN1 vanin 1 This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. 1580863,1300048 9790769,17312006,16335952,15489334,15084671,14702039,14574404,12477932,11491533,10567687,8934567 8876 NM_004666,AL032821,CH471051,DQ100297,AJ132099,AK095461,AK290425,BC096265,BC096266,BC096267,BC096268,U39664 NP_004657,CAB40075,EAW48020,AAY88742,CAA10568,BAF83114,AAH96265,AAH96266,AAH96267,AAH96268,AAF21453,O95497 Hs.12114,Hs.708336 GDB:9957496 HDLCQ8|MGC116930|MGC116931|MGC116932|MGC116933|Tiff66 protein-coding 1353663 VNN2 vanin 2 This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Two transcript variants encoding different isoforms have been described for this gene. 1580863 9790769,18095154,17543284,16335952,15489334,14748512,14574404,12967480,12777063,12749849,12477932,12056825,11491533,11200068,10201959 8875 NM_078488,NM_004665,AL032821,CH471051,DQ249347,AB026705,AJ132100,AK290908,AK292125,BC064641,BC126145,BC126147,CR609799,D89974 NP_511043,NP_004656,CAB40076,EAW48015,EAW48016,ABB72673,BAB61019,CAA10569,BAF83597,BAF84814,AAI26146,AAI26148,BAA82525,O95498 Hs.293130 GDB:9957493 FOAP-4|GPI-80 protein-coding 1351839 VNN3 vanin 3 This gene product is a member of the Vanin family of proteins which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a secreted molecule whose exact function is not known. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Several transcript variants encoding different isoforms have been described for this gene. 1580863 11491533,14574404,12477932,10501839 55350 NM_001024460,NM_018399,NM_078625,AL032821,CH471051,DQ220706,AA461622,AB435052,AB435053,AB435054,AB435055,AB435056,AB435061,AJ238982,AK075110,BC104416,BC104417,BC113022,BC113023,BC148317 NP_001019631,NP_060869,NP_523239,EAW48017,EAW48018,EAW48019,ABA60895,BAG30924,BAG30925,BAG30926,BAG30927,BAG30928,BAG30933,CAB76824,AAI04417,AAI04418,AAI13023,AAI13024,AAI48318,A0AUL5,Q9NY84 Hs.183656 GDB:11502621 HSA238982|MGC171203|PAGEL-beta protein-coding 1349344 VP variegate porphyria GDB:120492 1605417 VPRBP Vpr (HIV-1) binding protein 16888644,14702039,12477932,12111997,11223251,9872452,8195203,17626091,17620334,17609381,17314515 9730 NM_014703,AC092037,CH471055,AB018343,AF061935,AF086402,AK023239,AL080145,BC022792,BC110371 NP_055518,EAW65140,EAW65141,EAW65142,EAW65143,BAA34520,AAG27134,CAB45738,AAH22792,AAI10372,Q9Y4B6 Hs.118738 DCAF1|KIAA0800|MGC102804 protein-coding 1347336 VPREB1 pre-B lymphocyte gene 1 CD179a (VpreB) is a 126 aa-long polypeptide with apparent MW of 16-18 kDa. It is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. CD179a has an Ig V domain-like structure, but lacks the last beta-strand (beta7) of a typical V domain. Instead, it has a carboxyl terminal end that shows no sequence homologies to any other proteins. CD179a associates non-covalently with CD179b (lambda5 or lambda-like) carrying an Ig C domain-like structure to form an Ig light chain-like structure, which is called the surrogate light chain or pseudo light chain. In this complex, the incomplete V domain of CD179a appears to be complemented by the extra beta7 strand of CD179b. On the surface of early preB cells, CD179a/CD179b surrogate light chain is disulfide-linked to membrane-bound Ig mu heavy chain in association with a signal transducer CD79a/CD79b heterodimer to form a B cell receptor-like structure, so-called preB cell receptor (preBCR). Though no CD179a-related human disease or pathology has been reported yet, the deficiency of other components of preB cell receptor such as CD179b, Ig mu heavy chain and CD79a has been shown to result in severe impairment of B cell development and agammaglobulinemia in human. PreBCR transduces signals for: 1) cellular proliferation, differentiation from the proB cell to preB cell stage, 2) allelic exclusion at the Ig heavy chain gene locus, and 3) promotion of Ig light chain gene rearrangements. Thus, preBCR functions as a checkpoint in early B cell development to monitor the production of Ig mu heavy chain through a functional rearrangement of Ig heavy chain gene as well as the potency of Ig mu heavy chain to associate with Ig light chain. 1580863 16818733,15461802,12477932,12271131,11994467,11564802,9074928,9058786,8020565,7961773,7935499,3258819,3139558,2117639 7441 NM_007128,NG_000002,CH471095,D86992,D88270,M34927,S74019,BC017922,CR456609 NP_009059,EAW59498,BAA19987,BAA20030,AAA61292,AAB32118,CAG30495,P12018,Q8WVJ6,AAI52787,CAK54636,CAK54935 Hs.247979 GDB:120493 IGI|IGVPB|VPREB protein-coding 1315630 VPREB3 pre-B lymphocyte gene 3 The VPREB3 gene product is the human homologue of the mouse VpreB3 (8HS20) protein, and is specifically expressed in cell lines representative of all stages of B-cell differentiation. It is also related to VPREB1 and other members of the immunoglobulin supergene family. The VPREB3 protein associates with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. The precise function of VPREB3 is not known, but it may contribute to mu chain transport in pre-B cells. 1580863 10702669,15757909,15489334,15461802,14670953,12975309,12477932,8166770,7961773 29802 NM_013378,AB050772,AP000348,CH471095,AF163825,AY359000,BC020666,CR456610 NP_037510,BAB83034,EAW59598,AAF09451,AAQ89359,AAH20666,CAG30496,Q9UKI3,CAK54637,CAK54936,ABM84032,ABM87378 Hs.136713 GDB:10794896 8HS20|N27C7-2 protein-coding 1317575 VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. 1580863 12477932,11382755,11250079,9373149,8125298,16189514,15231747,15498874,15489334,14702039,14623309 55823 NM_021729,AP003392,CH471065,AB027508,AF258558,AF308800,AK023279,AK026012,AK056701,AK223158,AL834218,BC012051,BC065563,CR592403 NP_068375,EAW67444,EAW67445,EAW67446,BAA95163,AAG23761,AAG34677,BAB15320,BAD96878,CAH56401,AAH12051,AAH65563,Q53FX3,Q658K0,Q9H270 Hs.234282 GDB:11503275 END1|PEP5|RNF108|hVPS11 protein-coding 1312307 VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae) The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. 1599747 11381253,11381254,17998451,17673232,15918062,15498460,15489334,15164053,15146197,14702039,12671946,12477932,10737800,10231032,9382101 1599747 23230 NM_033305,NM_001018037,NM_015186,NM_001018038,AL158159,AL353710,AL359204,CH471089,AB023203,AB054005,AF337532,AJ608769,AJ626859,AK000273,AK022967,AK027023,AK124024,AW303378,BC020576,BC041852,BF801459,BI828209,CB104862,CD109338,CN348731 NP_150648,NP_001018047,NP_056001,NP_001018048,EAW62597,EAW62598,EAW62599,EAW62600,EAW62601,EAW62602,BAA76830,BAB59128,AAK61861,CAE75581,CAF25186,BAB14337,AAH20576,AAH41852,Q3Y3Z5,Q96RL7 Hs.459790,Hs.662256 CHAC|CHOREIN|FLJ42030|KIAA0986 protein-coding 1317598 VPS13B vacuolar protein sorting 13 homolog B (yeast) This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. 1357205,1580863 17990063,17081983,15498460,15154116,15141358,14702039,12730828,12477932,9628581,9373149,9359041,8125298,7920642 1357205 157680 NM_152564,NM_017890,NM_015243,NM_181661,NG_007098,AC018442,AC023933,AC026827,AC104986,AC105195,AC105328,AC107909,AP004289,AP004290,CH471060,AB011104,AJ608772,AJ608773,AK000590,AK091431,AK223122,AY223814,AY223815,AY223816,AY223817,AY223818,BC020813,BC033121,BC094749,BC132976,BC132978,BX098890,BX647561,BX648610,CA447487,CR592649,CR624774 NP_689777,NP_060360,NP_056058,NP_858047,EAW91786,EAW91787,EAW91788,BAA25458,CAE75584,CAE75585,BAC03664,BAD96842,AAP41102,AAP41103,AAP41104,AAP41105,AAP41106,AAH20813,AAH33121,Q504V5,Q53G09,Q7Z7G8,Q8N509,Q8WW67,BAA91275 Hs.191540 GDB:252122 CHS1|COH1|DKFZp313I0811|KIAA0532 cohen syndrome 1 protein-coding 1348377 VPS13C vacuolar protein sorting 13 homolog C (S. cerevisiae) 17081983,15498460,15489334,14702039,12477932,10718198 54832 NM_017684,NM_020821,NM_018080,NM_001018088,AC009554,AC104590,CH471082,AB037842,AJ608770,AJ608771,AJ626860,AJ626861,AK000143,AK001243,AK025014,AK025364,AK123851,AK128650,AL833377,BC069387,BX648470,BX648766,CR936716 NP_060154,NP_065872,NP_060550,NP_001018098,EAW77599,EAW77600,EAW77601,EAW77602,EAW77603,EAW77604,EAW77605,EAW77606,EAW77607,BAA92659,CAE75582,CAE75583,CAF25187,CAF25188,BAA90972,BAA91578,BAC87549,AAH69387,Q6ZQY1,Q709C8,Q9NW10 Hs.511668 DKFZp686E0570|FLJ21361 vacuolar protein sorting 13c (yeast) protein-coding 1318152 VPS13D vacuolar protein sorting 13 homolog D (S. cerevisiae) This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. 16710414,15498460,15489334,14702039,12477932,12421765,9455484,9110174,8619474 55187 NM_015378,NM_018156,AL031276,AL031296,AL109757,BX682532,BX784395,BX784396,CH471130,AB007922,AF052104,AI290874,AJ608774,AJ608775,AK001481,AK026719,AK057675,AK074350,AK125118,AL162331,AL833079,AL833320,BC025329,BC028115,BC051804,BQ883441,BX641035 NP_056193,NP_060626,CAI19411,CAI19412,CAI19413,CAI19414,EAW71737,EAW71738,EAW71739,BAA32298,CAE75586,CAE75587,BAA91716,BAC86054,CAB82724,AAH28115,AAH51804,CAE46021,Q5THJ4,Q5THJ5,Q9NVN4 Hs.439381 FLJ23066 vacuolar protein sorting 13d (yeast) protein-coding 1345721 VPS16 vacuolar protein sorting 16 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. 1580863 15489334,14702039,12477932,11780052,11382755,11250079 64601 NM_022575,NM_080413,NM_080414,AL161656,CH471133,AF308801,AK055787,AL834401,BC012422,BC021291,BC030571,BC044662,BC064406,BC073959,BC126431,CR608865,CR608979,CR626842 NP_072097,NP_536338,NP_536339,CAC21465,CAI12120,CAI12121,CAI12122,CAI12123,EAX10564,EAX10565,EAX10566,AAG34678,BAB71013,CAD39063,AAH12422,AAH21291,AAH64406,AAH73959,AAI26432,Q5JUA8,Q5JUA9,Q5JUB0,Q6GMQ7,Q9H269 Hs.654871 GDB:11503277 hVPS16 vacuolar protein sorting 16 (yeast) protein-coding 1323077 VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. 1580863 17353931,17081983,16996030,16203730,15489334,14623309,12477932,11382755,11250079,10819331,16189514 57617 AB040908,AF308802,AL713725,BC001513,NM_020857,AC025166,CH471125 EAW92464,EAW92465,BAA95999,AAG34679,CAD28515,AAH01513,Q9P253,ABM83678,ABM86974,NP_065908,EAW92461,EAW92462,EAW92463 Hs.23876 GDB:11502619 KIAA1475|PEP3 vacuolar protein sorting protein 18 protein-coding 1351348 VPS24 vacuolar protein sorting 24 homolog (S. cerevisiae) This gene encodes a protein that acts in the sorting of transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants encoding different isoforms. 1299526 17711858,17686835,17331679,17261583,17146056,17081983,16730941,16554368,16302002,15815621,15707591,15632132,15489334,15231748,14519844,14505570,14505569,12878588,12477932,12194857,11549700,10810093,12775420,16189514 1299526 51652 NM_016079,AC015971,AC068288,CH471053,AF151907,AF219226,AK025046,AK025260,AK129502,AK290725,AK315835,AY364249,BC004419,BG705423,NM_001005753,BI562428,CR606230 NP_001005753,NP_057163,AAX93078,AAY24211,EAW99448,EAW99449,EAW99450,EAW99451,EAW99452,AAD34144,AAF26737,BAF83414,BAF98726,AAQ76808,AAH04419,Q3ZTS9,Q9Y3E7,ABZ92336 Hs.591582 CGI-149|CHMP3|NEDF vacuolar protein sorting 24 (yeast) protein-coding 1603949 VPS25 vacuolar protein sorting 25 homolog (S. cerevisiae) VPS25, VPS36 (MIM 610903), and SNF8 (MIM 610904) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. VPS25, VPS36, and SNF8 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM] 16371348,16189514,15755741,15511219,15489334,15007060,14519844,14505570,12477932,11278625 84313 NM_032353,AC100793,CH471152,AB014763,BC006282,CR611687,CR615047,CR620674 NP_115729,EAW60879,EAW60880,BAB87804,AAH06282,Q9BRG1 Hs.500165 DERP9|EAP20|FAP20|MGC10540 protein-coding 1343417 VPS26A vacuolar protein sorting 26 homolog A (S. pombe) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. 1298632,1580863 11102511,17101778,16784798,16732284,16407403,16315276,16190980,15489334,15282546,15247922,15164054,14702039,12477932,11598206,11042152,9653160,1638986 1298632 9559 NM_004896,NM_001035260,AL442635,AL596223,CH471083,AF054179,AF175266,AK022992,AK290536,AL110166,BC022505,BQ048905,BX647725,BX649092,CD358963,CR617214,CR618440 NP_004887,NP_001030337,CAH71779,CAH71501,EAW54311,EAW54312,EAW54313,AAC39912,AAF89954,BAB14351,BAF83225,AAH22505,O75436 Hs.499925 GDB:9957340 FLJ12930|HB58|Hbeta58|PEP8A|VPS26 vacuolar protein sorting 26 (yeast) protein-coding 1603929 VPS26B vacuolar protein sorting 26 homolog B (S. pombe) 11102511,16190980,15489334,12477932 112936 CR610089,CR619509,CR621034,CR625768,NM_052875,AP000859,CH471065,AF452718,BC007799,BC009747,BC013255,BC014128,BC098386,CD369199 Q4G0F5,ABW03822,ABW03510,NP_443107,EAW67825,EAW67826,EAW67827,AAP13353,AAH09747,AAH14128,AAH98386 Hs.334684 MGC10485|Pep8b protein-coding 1315210 VPS28 vacuolar protein sorting 28 homolog (S. cerevisiae) This gene encodes a protein involved in endosomal sorting of cell surface receptors via a multivesicular body/late endosome pathway. The encoded protein is one of the three subunits of the ESCRT-I complex (endosomal complexes required for transport) involved in the sorting of ubiquitinated proteins. The two other subunits of ESCRT-I are vesicular protein sorting 23, also known as tumor susceptibility gene 101 (TSG101), and vesicular protein sorting 37. Two alternative transcripts encoding different isoforms have been described. Additional alternative transcripts may exist but the proteins encoded by these transcripts have not been verified experimentally. 1580863 11134028,16474136,15509564,15489334,15240819,14702039,12892785,12857913,12663786,12477932,11916981,11591653,15218037,16189514,14519844 51160 NM_183057,NM_016208,AF205589,CH471162,AF182844,AF316887,AF445417,AK026865,AK090942,AK091979,BC006485,BC019321,BC050438,BC050712,BC050713,BU658837,CR591710,CR592521,CR593237,CR600507,CR602682,CR603930,CR610765,CR615683 NP_898880,NP_057292,EAW82094,EAW82095,EAW82096,EAW82097,EAW82098,EAW82099,EAW82100,AAF00499,AAK00314,AAQ04641,AAH06485,AAH19321,AAH50713,Q548N1,Q86VK0,Q9UK41 Hs.418175 GDB:11508144 MGC60323 vacuolar protein sorting 28 (yeast) protein-coding 1318040 VPS29 vacuolar protein sorting 29 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms, and usage of multiple polyadenylation sites have been found for this gene. 1580863 17891154,17101778,16737443,16381901,15788412,15489336,15489334,15282546,15247922,12477932,11256614,11230166,11102511,11076863,11062004,9700157 51699 NM_016226,NM_057180,AC002350,CH471054,AF086379,AF168716,AF175264,AF193795,AF201936,AF201946,AK000499,AK129767,AK130510,AL136614,BC000880,BC015095,BC017964,BC032462,BC095446,BG707325,CR457182,CR533468,CR594493,CR612363,AL832866 NP_057310,NP_476528,EAW97918,EAW97919,AAF87318,AAF89952,AAF04596,AAF86872,AAF17238,CAB66549,AAH00880,AAH15095,AAH32462,AAH95446,CAG33463,CAG38499,Q5JPE4,Q6FIF8,Q6IAH3,Q8N0S8,Q9UBQ0,CAI46196,CAL37713 Hs.632735 GDB:11502616 DC15|DC7|DKFZp564F0223|FLJ20492|PEP11 vacuolar protein sorting 29 (yeast) protein-coding 731826 VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. 1580863 15790593,15489334,15342556,14702039,12538872,12477932,11382755,11250079,8996080 65082 NM_022916,AC048338,CH471054,AF439857,AK026048,AK026840,BC016617,BI551252,BP199163,CR600692,CR615295 NP_075067,EAW98319,AAL33577,BAB15336,BAB15570,AAH16617,Q547V4,Q96AX1,Q9H6C4,ABW03704 Hs.592009 GDB:11508146 FLJ22395|FLJ23187 vacuolar protein sorting protein 33a protein-coding 732726 VPS33B vacuolar protein sorting 33 homolog B (yeast) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. 730029,1599749,1580863 15790593,18367154,18347289,16344560,16189514,16123220,15489334,15052268,14702039,12477932,11250079,10894945,8996080 730029,1599749 26276 NM_018668,AC068831,CH471101,AF201694,AF308803,AJ713428,AK027754,AK074863,AL357472,BC016445,CR604260,DA020491 NP_061138,EAX02139,EAX02140,AAF91174,AAG34680,BAB55345,CAB93109,AAH16445,Q9H267 Hs.459366 GDB:11503279 FLJ14848 vacuolar protein sorting homolog r-vps33b protein-coding 1350372 VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae) This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. 1300445,1580863 11102511,11256614,17891154,17101778,16381901,16344560,15489336,15489334,15282546,15247922,14702039,12477932,11230166,11112353,11076863,11062004,9373149,9110174,8889548,8619474,8125298,17916227,17353931,16189514 1300445 55737 NM_018206,AC007225,AC012186,CH471092,AF086051,AF175265,AF183418,AF186382,AF191298,AK000395,AK001614,AK023650,AK025774,AK223218,AL136888,AL512769,AY007112,BC002414,BC010362,BC041367,BC093036,BM971213,BQ574179,CR602924,CR618276,CR626386,DB049686,BX647213 NP_060676,EAW82683,EAW82684,AAF89953,AAG09687,AAG40619,AAF02778,BAA91137,BAA91790,BAB14626,BAD96938,CAB66822,CAC21686,AAG01989,AAH02414,AAH10362,AAH93036,Q0JS99,Q53FR4,Q5HYM2,Q96QK1,CAI46268,CAL38615 Hs.696029 GDB:11502538 DKFZp434E1211|DKFZp434P1672|FLJ10752|FLJ13588|FLJ20388|MEM3 protein-coding 1320260 VPS36 vacuolar protein sorting 36 homolog (S. cerevisiae) VPS36, VPS22 (SNF8; MIM 610904), and VPS25 (MIM 610907) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. VPS36, VPS22, and VPS25 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM] 17057716,16371348,15755741,15489334,15057823,14702039,14519844,14505570,12477932,11278625,10810093 51028 NM_016075,AL359513,BX537689,CH471274,AB208956,AF151903,AI352102,AK022911,AK023182,AK289740,BC037279,CR590821,CR618767,CR933653,BC050439,BG400860,BX647847 NP_057159,CAH71658,EAW55895,BAD92193,AAD34140,BAB14451,BAF82429,AAH37279,CAI45953,Q59H03,Q86VN1,AAH50439 Hs.109520 C13orf9|CGI-145|DKFZp781E0871|EAP45 chromosome 13 open reading frame 9 protein-coding 1604528 VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae) 15509564,15240819,15218037,14702039,14623289,12477932 137492 NM_152415,AC091050,AC124074,AC142097,CH471080,AF547097,AK057204,AK124607,AL834189,AY033079,BC022363,BC067754,CR600138 NP_689628,EAW63817,EAW63818,EAW63819,AAQ12067,BAB71381,CAD38883,AAK54349,AAH22363,AAH67754,Q8NEZ2 Hs.343873 FLJ32642|FLJ42616|HCRP1|PQBP2 protein-coding 1605953 VPS37B vacuolar protein sorting 37 homolog B (S. cerevisiae) 15218037,14702039,12477932,16189514,15240819 79720 NM_024667,AC027290,CH471054,AK022812,BC005882 NP_078943,EAW98348,EAW98349,EAW98350,EAW98351,BAB14255,AAH05882,Q9H9H4 Hs.507162 FLJ12750 protein-coding 1605989 VPS37C vacuolar protein sorting 37 homolog C (S. cerevisiae) VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM] 15509564,14702039,12477932 55048 NM_017966,AP000437,CH471076,AK000854,AK097326,AL834261,BC005805,BC062604,BC141827,BC142702,BM450171,CR457250,CR621619 NP_060436,EAW73925,EAW73926,EAW73927,BAA91399,CAD38936,AAI41828,AAI42703,CAG33531,A5D8V6,Q6IAA5,Q9NWI1 Hs.523715 FLJ20847 protein-coding 1349183 VPS37D vacuolar protein sorting 37 homolog D (S. cerevisiae) 15218037,12477932 155382 NM_001077621,AC073846,CH471200,AY081952,BC029730,BC064621,CR594226,CR596679 NP_001071089,EAW69659,AAL91075,AAH64621,Q86XT2,AAI56355,AAI57107 Hs.647037 GDB:11508948 MGC35352|WBSCR24 williams beuren syndrome chromosome region 24 protein-coding 1312537 VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. 1580863 16381901,15489336,15489334,12941698,12477932,12168954,11448994,11230166,11076863,9872452,16189514 23339 CR598238,NM_015289,AC036103,AF334400,CH471125,AB018313,AF280814,AF281052,AK025334,AK074193,AK128403,AL117456,BC015817,BC068559,BX537404 CAD97646,Q0JVP4,Q71SQ6,Q7Z3V3,Q96JC1,CAL37416,CAL38644,NP_056104,AAK58862,EAW92535,EAW92536,EAW92537,EAW92538,EAW92539,BAA34490,AAK72222,AAQ05978,AAH15817,AAH68559 Hs.88025 FLJ21681|FLJ46546|KIAA0770|TLP|VAM6|hVam6p protein-coding 1353898 VPS41 vacuolar protein sorting 41 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. 1580863 12853948,12477932,11412045,10559961,9847074,9159129,7596406 27072 NM_080631,NM_014396,AC004850,AC005247,CH236951,CH471073,AK026848,AK074325,BC044851,BX648347,CR618313,L40398,U87281,U87309 NP_542198,NP_055211,AAQ96883,AAS00372,AAS00373,EAW94113,EAW94114,AAH44851,AAC42004,AAB47758,AAB47563,P49754,Q75MS1,Q75MS2,Q75MX9,Q86TP8,Q9H348 Hs.592184 GDB:10796093 HVPS41|HVSP41|hVps41p protein-coding 732754 VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae) Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. 730029,1580863 10404641,8996080,16344560,15489334,14702039,14623309,12477932,12110575,11788822,11062261,9373149,9045632,8125298 730029 11311 NM_007259,AL358073,CH471121,AF165513,AJ133421,AK023170,AK223214,AY453586,BC012932,BC028382,CR743023,DA122826,U35246 NP_009190,CAI14265,CAI14266,EAW53584,EAW53585,AAF86643,CAB40417,BAB14443,BAD96934,AAS49034,AAH12932,AAH28382,AAC50931,A0AR27,Q53FR8,Q5T4P6,Q9NRW7 Hs.443750 GDB:9957938 H1|H1VPS45|VPS45A|VPS45B|VPS54A|VSP45|VSP45A vesicular transport protein rvps45 protein-coding 732193 VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. 10637304,16174732,17928862,11559748,11563910,17913808,17601348,17553870,16841193,16730941,15632132,15489334,15075231,14505570,14505569,12860994,12594041,12477932,12417987,11937716,11931639,10931946,10393249 27183 NM_013245,AC026464,AF282903,CH471092,AF112215,AF132747,AF155740,AF159063,AF255952,AK000200,AK025850,AL133634,BC013021,BC035121,BC047932,CR603988 NP_037377,AAG01470,EAW83261,EAW83262,EAW83263,EAW83264,AAF17203,AAL75948,AAD42971,AAD49227,AAK52408,BAA91005,CAB63758,AAH35121,AAH47932,Q49AN7,Q9NXK5,Q9UF30,Q9UN37 Hs.128420 GDB:9957244 FLJ22197|SKD1|SKD2|VPS4|VPS4-1 protein-coding 1314314 VPS4B vacuolar protein sorting 4 homolog B (S. cerevisiae) The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. 1580863 16174732,17928862,15024011,11563910,10637304,16757520,17601348,17553870,17081983,17014699,16344560,16193069,16018968,16004603,15489334,15173323,14505570,14505569,12594041,12477932,11559748,11042152,10393249,9653160,8082782 9525 DA306069,NM_004869,AC036176,AF282904,CH471096,AF038960,AF195514,AK290932,AK291253,AY232629,BC009692,BC039574 AAH39574,O75351,Q69HW4,Q6PJZ4,NP_004860,AAG01471,EAW63143,EAW63144,AAC39874,AAG33022,BAF83621,BAF83942,AAP59551,AAH09692 Hs.126550 GDB:11508601 MIG1|SKD1|VPS4-2 vacuolar protein sorting 4b (yeast) protein-coding 1604402 VPS52 vacuolar protein sorting 52 homolog (S. cerevisiae) This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. 8125298,15878329,15489334,14702039,14574404,12477932,12366783,12210484,10452889,9790748,9373149 6293 AJ223319,AL645940,AL713971,AL844527,BX248408,CH471081,CR759786,CR759817,CR762434,NM_022553,AJ006026,AK001725,AK093057,AK222867,AL390171,AL559461,AW150166,BC032108,BC040114,BU167150,CR610487,CR613858 NP_072047,CAA11260,CAI18075,CAI17655,CAI41847,CAM26258,EAX03686,EAX03687,EAX03688,EAX03689,EAX03690,EAX03691,EAX03692,EAX03693,CAQ08250,CAQ08020,CAQ06872,CAA06821,BAD96587,CAB99099,AAH32108,AAH40114,O60838,Q7LA74,Q8N1B4 Hs.480356 ARE1|DKFZp547I194|RP5-1033B10|SAC2|SACM2L|dJ1033B10.5 protein-coding 1605366 VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae) 17666431,16953216,15878329,15498874,15489334,14702039,12621583,12565177,12477932 55275 NM_018289,AC015853,AC027455,CH471108,AF246287,AF318335,AK001841,AK091388,AK092532,AK290343,AY444797,BC006116,BC029560,BC040223,EU434648,EU434649,EU434650 NP_060759,EAW90658,EAW90659,EAW90660,EAW90661,EAW90662,AAK27973,AAL55842,BAA91935,BAF83032,AAS20944,AAH06116,AAH29560,ACA21423,ACA21424,ACA21425,Q5VIR6,Q8NCR1 Hs.461819 FLJ10979|HCCS1|MGC39512|hVps53L|pp13624 protein-coding 1350552 VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae) This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms 619586,1580863 15878329,15489334,14702039,12477932,12174196,12039048 619586 51542 NM_016516,NM_001005739,AC092588,CH471053,AF102177,AK002205,AK025545,AK094019,AK124436,AK292669,AK292889,AL137604,AL359939,AL514510,AW452246,AY444798,BC030275,BC041868,CR749701 NP_057600,NP_001005739,EAW99952,AAF37319,BAA92134,BAF85358,BAF85578,CAB70837,CAB95772,AAS20945,AAH30275,AAH41868,CAH18479,Q9P1Q0,ABM82006,ABM85188 Hs.48499 HCC8|SLP-8p|VPS54L|hVps54L vacuolar protein sorting 54 (yeast) protein-coding 1314551 VPS72 vacuolar protein sorting 72 homolog (S. cerevisiae) 1580863 7702631,17567994,16710414,16189514,15647280,15489334,12477932,9373149,8125298 6944 NM_005997,AL592424,CH471121,AK222935,AK222939,AK225130,BC003151,BT019356,BT019357,CR598351,CR599603,CR599798,CR608392,CR621971,CR623974,D43642,DQ655941,DQ656047 NP_005988,CAI16385,CAO72042,EAW53462,BAD96655,BAD96659,AAH03151,AAV38163,BAA07757,Q15906,ABM83866,ABM87188,AAV38164 Hs.2430 GDB:698364 CFL1|Swc2|TCFL1|YL-1|YL1 transcription factor-like 1 protein-coding 1603690 VPS8 vacuolar protein sorting 8 homolog (S. cerevisiae) 16344560,15489334,15231748,14702039,12477932,9872452 23355 NM_001009921,NM_015303,AC025573,AC107294,AC117436,CH471052,AB018347,AK022945,AK056661,AK292423,AL833838,BC001001,BC036005,BI914013,BX647915,DA218768,DA340096 NP_001009921,NP_056118,EAW78233,EAW78234,BAA34524,BAB14322,BAF85112,CAD38698,AAH01001,CAH56195,Q8N3P4 Hs.269263 FLJ32099|KIAA0804 protein-coding 1314472 VRK1 vaccinia related kinase 1 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. 1580863 9344656,17938195,17689819,17617371,16782868,16547155,15635413,15542844,15489334,15378002,15105425,14747564,14645249,12477932,11883897,11709713,10951572,10747897,10083742 7443 NM_003384,AL133168,CH471061,AB000449,AK290110,BC005970,BC103761,BC112075,BC113510,BU535261,CA436761,CR608451,CR619781 NP_003375,EAW81653,EAW81654,BAA19108,BAF82799,AAI03762,AAI12076,AAI13511,Q99986 Hs.422662 GDB:6268472 MGC117401|MGC138280|MGC142070 protein-coding 1323120 VRK2 vaccinia related kinase 2 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, leukocytes, fetal liver, and carcinomas. Its protein localizes to the endoplasmic reticulum and has been shown to phosphorylate casein and undergo autophosphorylation. While several transcript variants may exist for this gene, the full-length nature of only one has been biologically validated to date. 16963744,9344656,17709393,16704422,15489334,14645249,12477932,9373149,8125298 7444 NG_007418,AC007250,AC068193,AC073215,CH471053,AB000450,AJ512204,AK058199,AK223540,AK292727,AY228367,AY228368,AY228369,AY228370,AY228371,AY228372,BC021663,BC027854,BC036434,CR605412,NM_006296,CR624256,CR622767 NP_006287,AAY15019,AAX93262,AAY14648,EAX00062,EAX00063,EAX00064,EAX00065,EAX00066,EAX00067,EAX00068,BAA19109,CAD54446,BAD97260,BAF85416,AAO73047,AAO73048,AAO73049,AAO73050,AAO73051,AAO73052,AAH21663,AAH27854,AAH36434,Q05CR6,Q53S39,Q53S77,Q53TU1,Q86Y07,ABM81858,ABM85020 Hs.631890 GDB:6268473 protein-coding 1350616 VRK3 vaccinia related kinase 3 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. 1580863 15489334,14645249,12477932,9373149,8125298,17353931 51231 NM_001025778,NM_016440,AC011452,CH471177,AF514788,AK074461,AK123892,AK125747,AK225154,AK292918,AV706241,BC003546,BC023556,BC095449,BG421578,CR594746,CR596704,CR597000,CR604545,CR606658,CR609812,CR618423,CR621551,AB031052 NP_001020949,NP_057524,EAW52588,EAW52589,EAW52590,EAW52591,AAP47180,BAC85717,BAC86272,BAF85607,AAH23556,AAH95449,Q6ZUF3,Q6ZVZ1,Q8IV63,EAW52592,BAA90769 Hs.443330 protein-coding 1346794 VRK3PS vaccinia related kinase 3 pseudogene 369009 1342732 VRNI vitreoretinopathy, neovascular inflammatory 7445 GDB:135662 1347101 VSIG1 V-set and immunoglobulin domain containing 1 737633 16405301,12477932 737633 340547 NM_182607,AL031177,AL953860,CH471120,AK292472,BC043216,BK005767,BX640913,BX648658 NP_872413,CAI43130,EAX02699,BAF85161,AAH43216,DAA05750,CAE45954,CAH56142,Q86XK7 Hs.177164 1700062D20Rik|GPA34|MGC44287|dJ889N15.1 protein-coding 1344618 VSIG2 V-set and immunoglobulin domain containing 2 1580863 9862345,15489334,15340161,14702039,12975309,12477932 23584 BC007313,BC012567,NM_014312,AF061022,AP000866,CH471065,AK000460,AY358897 AAH07313,Q96IQ7,ABW03837,ABW03533,NP_055127,AAD17522,EAW67595,EAW67596,EAW67597,BAA91179,AAQ89256 Hs.112377 2210413P10Rik|CTH|CTXL protein-coding 1354021 VSIG4 V-set and immunoglobulin domain containing 4 1580863 16530040,17051150,17016562,17016555,16882875,16303743,15489334,15342556,15340161,12975309,12477932,11997108,11004523 11326 NM_007268,AL034397,CH471132,CQ789678,AJ132502,AK075153,AK075171,AL552873,AY358341,BC010525,BP292528,BX482258,CA310184,CA405669,CR593943,CR595142,CR595586,CR597253,CR601570,CR603367,CR603425,NM_001100431,CR603531,CR605065,CR606647,CR607644,CR607860,CR610574,CR611365,CR613051,CR614994,CR616282,CR618957,CR620553,CR624119,CR624751,CR626818 NP_001093901,NP_009199,CAB46921,CAI42051,CAI42052,CAI42053,EAX05393,EAX05394,EAX05395,CAG24387,CAB51536,AAQ88707,AAH10525,Q9Y279,ABM82696,ABM85879 Hs.8904 CRIg|Z39IG protein-coding 1602403 VSIG6 V-set and immunoglobulin domain containing 6 388078 XM_370835,AC010760 XP_370835 protein-coding 1605500 VSIG7 V-set and immunoglobulin domain containing 7 390531 XM_496025,AC127381 XP_496025 protein-coding 1603819 VSIG8 V-set and immunoglobulin domain containing 8 12477932 391123 NM_001013661,AL590560,BC132893,BC132895 NP_001013683,CAH71105,CAH71106,AAI32894,AAI32896,Q5VU13 Hs.647718 protein-coding 737420 VSNL1 visinin-like 1 This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. 17615261,16731532,16713569,16703469,16189514,15735716,15489334,12681369,12477932,12445467,12202488,12200122,12196554,11930147,11592857,11579136,10851344,10520747,9109541,8780737,8530085,1375457 7447 NM_003385,AC079839,AC097377,CH471053,AB001104,AF039555,AI143139,BC022012,BF055598,BI544338,CR590184,CR597497,CR603967,CR606471,CR610766,CR618380,CR621143,U14747 AAA91295,P62760,Q4ZFX3,Q53RT2,ABM81726,ABM84881,NP_003376,AAY24036,AAX88850,EAX00870,EAX00871,EAX00872,EAX00873,EAX00874,EAX00875,BAA86891,AAD02174,AAH22012 Hs.444212 GDB:392113 HLP3|HPCAL3|HUVISL1|VILIP|VILIP-1 protein-coding 1604181 VSTM1 V-set and transmembrane domain containing 1 15489334,15340161,12975309,12477932,11329013 284415 NM_198481,AC012314,CH471135,AI457604,AY358542,BC100942,BC100943,BG189223,BQ446114 NP_940883,EAW72173,AAQ88906,AAI00943,AAI00944,Q6UX27 Hs.444431 MGC119160|MGC119161|UNQ3033 protein-coding 1604199 VSTM2A V-set and transmembrane domain containing 2A 15489334,12477932 222008 NM_182546,AC069313,CH236957,CH471201,BC028404,BC045679,BI752069,BI755592,CR613464,CR617415,DN991717 NP_872352,EAL23809,EAW50952,EAW50953,EAW50954,AAH28404,Q8TAG5 Hs.335933 MGC33530|VSTM2 protein-coding 1626689 VSTM2B V-set and transmembrane domain containing 2B 342865 XM_292785,XM_001715383,XM_939057 XP_292785,XP_001715435,XP_944150 Hs.451618 protein-coding 1313925 VSTM2L V-set and transmembrane domain containing 2 like 16713569,15489334,14702039,12477932,11780052 128434 NM_080607,AL109964,CH471077,AK056177,AL834410,BC033818,BE905791,CR619223 NP_542174,CAI42205,CAI42206,CAI42207,EAW76051,EAW76053,BAB71113,CAD39072,AAH33818,Q96N03 Hs.517029 GDB:11505052 C20orf102|dJ1118M15.2 protein-coding 1606681 VSTM3 V-set and transmembrane domain containing 3 14702039,12477932 201633 NM_173799,AC093010,CH471052,AK097192,AL833175,BC101288,BC101289,BC101290,BC101291,BX640915 NP_776160,EAW79602,BAC04973,CAI46183,AAI01289,AAI01290,AAI01291,AAI01292,CAE45956,Q495A1 Hs.421750 DKFZp667A205|FLJ39873|VSIG9 protein-coding 1313832 VSX1 visual system homeobox 1 The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. 1599773,1580863 10673340,18253095,18216574,17960127,17122109,16799019,16384943,15647262,15623752,15489334,15051220,12477932,11978762,11780052,10903837,8889548 1599773 30813 DQ854812,DQ854811,NM_014588,NM_199425,AL080312,CH471133,AF176797,AF251033,AF251034,BC126228,BM712470,DQ854807,DQ854808,DQ854809,DQ854810 ABI23977,ABI23978,Q0GM60,Q0GM61,Q0GM62,Q0GM63,Q0GM64,Q9NZR4,NP_055403,NP_955457,CAI18918,EAX10104,EAX10105,AAF37425,AAF99656,AAF99657,AAI26229,ABI23973,ABI23974,ABI23975,ABI23976 Hs.274264 GDB:10796229 KTCN|PPCD|PPD|RINX protein-coding 1348218 VSX2 visual system homeobox 2 734779,1580863 18385794,17661825,16236706,15909363,15647262,15257456,12508121,12477932,11069920,10932181,9847074,1973146 734779 338917 NM_182894,AC005519,AC006349,CH471061,AY336059,BC128153 NP_878314,EAW81163,EAW81164,AAQ01593,AAI28154,P58304 Hs.449771 GDB:125251 CHX10|HOX10|MCOP2|MCOPCB3|RET1 ceh-10 homeo domain containing homolog (c. elegans) protein-coding 1312819 VTA1 Vps20-associated 1 homolog (S. cerevisiae) C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM] 16189514,15644320,15489334,15173323,14702039,12477932,11984006,11489251,11230166,11042152,9110174,8619474 51534 NM_016485,AL033522,CH471051,AF060225,AF141341,AF151062,AF271994,AJ420507,AK000051,AK130738,AL136684,AY007093,BC005937,BC006989,BC013217,BC022536,CR457207,CR606694 NP_057569,CAI21072,CAI21073,EAW47883,EAW47884,EAW47885,AAG43125,AAG49444,AAF36148,AAF76210,BAA90909,CAB66619,AAH05937,AAH06989,AAH22536,CAG33488,Q5TGM0,Q9C063,Q9NP79,ABM84446,ABM87503 Hs.431367 C6orf55|DRG-1|DRG1|FLJ27228|HSPC228|LIP5|My012|SBP1 chromosome 6 open reading frame 55 protein-coding 1606221 VTCN1 V-set domain containing T cell activation inhibitor 1 B7H4 belongs to the B7 family (see CD80; MIM 112203) of costimulatory proteins. These proteins are expressed on the surface of antigen-presenting cells and interact with ligands (e.g., CD28; MIM 186760) on T lymphocytes.[supplied by OMIM] 17509674,17498784,17051145,16798883,16785496,16606666,16344560,15878339,15146197,14568939,12975309,12920180,12818166,12818165,12796776,12477932,9373149,8125298 79679 NM_024626,AL391476,CH471122,AK026071,AK225413,AY280972,AY346100,AY358352,AY442303,BC065717,BC074729,BX648021,CN259811,CR603772,DB198367,DQ103757,DQ836392 NP_078902,CAI12737,CAI12739,EAW56671,EAW56672,EAW56673,BAB15349,AAP37283,AAQ24206,AAQ88718,AAS13400,AAH65717,AAH74729,AAZ17406,ABI16083,Q0GN76,Q45VN0,Q5T2L0,Q5WPZ3,Q6P097,Q7Z7D3,Q9H6B2 Hs.546434 B7-H4|B7H4|B7S1|B7X|B7h.5|FLJ22418|PRO1291|RP11-229A19.4|VCTN1 protein-coding 736863 VTI1A vesicle transport through interaction with t-SNAREs homolog 1A (yeast) 1580863 15215310,16344560,15489334,12477932,11839770,9446565 143187 NM_145206,AC022018,AL133323,AL139120,AL158212,AL512270,CH471066,AI610960,AI797732,BC017052,BC067241,BI909044,CR607772,CR618926,DA324398,DA472521 NP_660207,CAH71781,CAM22437,EAW49524,EAW49525,AAH17052,Q5W0D7,Q96AJ9 Hs.194554 MVti1|Vti1-rp2 protein-coding 1352901 VTI1B vesicle transport through interaction with t-SNAREs homolog 1B (yeast) 1580863 9446565,15489334,15371541,14769786,12853575,12477932,12175335,12114520,12067063,11786915,11278762,11101518,10683148,9636656,16189514 10490 NM_006370,AL049779,CH471061,AF035824,AF060902,AK291689,BC003142,BC042390,BT019348,BT019960,CR456757,CR542095,CR603439,CR604112,CR606212,CR610010,CR612585 NP_006361,EAW80945,EAW80946,EAW80947,AAC52016,AAC73059,BAF84378,AAH03142,AAV38155,AAV38763,CAG33038,CAG46892,Q5TZX9,Q9UEU0 Hs.226007 VTI1|VTI1-LIKE|VTI1L|VTI2 protein-coding 736955 VTN vitronectin The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. 1580814,1580815,1580816,1580817,1580818,1580863 12808446,2418831,14718574,18376415,18340378,17766387,17344041,17081983,16815299,16807684,16785539,16335952,15914035,15905170,15843372,15777802,9030777,8920805,8830783,8663085,8567871,7690138,7682219,7545318,7522053,7518183,7490129,6210287,3004934,2479556,2475499,2454751,2448300,2447940,2433863,2414098,1709100,1706595,1704366,1696913,1694173,1377736,1372588,631332,7522689,7559467,16189514,15717924,15641781,15489334,15140223,15123885,15123712,15069014,14760718,14681059,14586734,12913402,12810534,12757937,12565847,12477932,12437099,12091360,12071840,12019263,11864711,11796824,11796716,11785953,11756447,11751588,11744726,11437656,11419941,10887113,10835423,10586957,10342887,10329419,9733784,9718986,9151113 1580814,1580815,1580816,1580817,1580818 7448 NM_000638,AC002094,AF382388,CH471159,X05006,AI352496,BC005046,BG470977,BI758517,CR590168,CR591115,CR592309,CR592341,CR592778,CR593593,CR593802,CR594626,CR598384,CR599264,CR599706,CR601125,CR601563,CR605180,CR606331,CR608327,CR608407,CR609434,CR611184,CR611315,CR612052,CR615135,CR615837,CR616509,CR616555,CR617303,CR617873,CR619020,CR619430,CR620941,CR621228,CR622097,CR622367,CR622613,CR622872,CR622907,CR623310,CR623975,CR624874,CR625072,X03168 ABM87715,NP_000629,AAK60270,EAW51082,CAA28659,AAH05046,CAA26933,P04004,ABM84320 Hs.2257 GDB:132366 V75|VN|VNT protein-coding 1348253 VTNR vitronectin receptor 7449 GDB:133756 1603968 VWA1 von Willebrand factor A domain containing 1 VWA1 belongs to the von Willebrand factor (VWF; MIM 193400) A (VA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM] 17187823,16407285,14702039,14527666,12477932,12062410 64856 NM_022834,NM_199121,AL391244,CH471183,AK025868,AK075366,AK096773,AK291557,AL137722,BC003543,BC059409,BQ100861,BU949921 NP_073745,NP_954572,CAI22657,EAW56197,EAW56198,EAW56199,EAW56200,EAW56201,BAB15264,BAF84246,AAH03543,AAH59409,Q6PCB0 Hs.449009 DKFZp761O051|FLJ22215|VWA-1|WARP protein-coding 1603244 VWA2 von Willebrand factor A domain containing 2 15699509,15580307,14506275 340706 AK122716,AK127756,AY572972,BC128588,NM_198496,AC005383,AC022023,AY572973,CH471066,AJ536328,AJ616914 BAC85505,BAC87116,AAT77225,AAI28589,Q5GFL6,NP_940898,AAT77226,EAW49475,CAD60276,CAE83814 Hs.197741 AMACO|CCSP-2|MGC157755 protein-coding 1641961 VWA3A von Willebrand factor A domain containing 3A 16344560,14702039,12477932 146177 NM_173615,AC009019,AK093467,AK098260,AK128606,AY360464,BC038400,BC109294,BC109295,DA317287 NP_775886,BAC04176,BAC05271,BAC87526,AAQ62968,AAH38400,AAI09296,A6NCI4,Q8N7K7 Hs.10697 FLJ40941|FLJ46765 protein-coding 1603168 VWA3B von Willebrand factor A domain containing 3B 16344560,14702039,12477932 200403 AC018691,AC092675,AC112788,CH471127,AK057248,AK090786,AK093084,AK098841,AK292397,AL832635,AL832761,AL834173,AL834385,BC022028,NM_144992,BC095480,BC026091,DB090320 NP_659429,AAY24180,AAY24027,EAX01912,EAX01913,EAX01914,BAC03518,BAC04047,BAC05431,BAF85086,CAD89964,CAD38871,CAD39048,AAH22028,AAH95480,Q502W6,Q53QF1,Q53RD3 Hs.269977 FLJ32686|MGC26733 protein-coding 1603838 VWC2 von Willebrand factor C domain containing 2 17400546,12975309,12477932 375567 NM_198570,AC034145,AC093775,CH236955,CH471128,AB292671,AY358393,BC110857 NP_940972,EAL23904,EAW60985,BAF51551,AAQ88759,AAI10858,Q2TAL6 Hs.677488 Brorin|MGC131845|UNQ739 protein-coding 1602968 VWCE von Willebrand factor C and EGF domains 16496348,16344560,14702039,12869306,12477932,7566098 220001 NM_152718,AP003037,CH471076,AA328361,AK056571,AY205235,BC042143,BC052564,BC077719,BC142624,DB126089 NP_689931,EAW73929,EAW73930,EAW73931,EAW73932,BAB71219,AAO47606,AAH42143,AAH52564,AAH77719,AAI42625,Q8IVT0,Q96DN2 Hs.60640 FLJ32009|URG11|VWC1 protein-coding 1347936 VWF von Willebrand factor The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. 1580642,1580643,1580647,1580648,1625712,1625709,1625710,1625711,1580644,1580645,1580863,1580446 17958741,17949477,17922807,17908278,17901248,17890957,17883593,17849054,17764538,17723135,17721608,17681836,17650077,17619827,17598021,17598011,17597991,17493665,17490730,17472573,17414220,17408410,17408405,17393013,17393012,17371490,17296575,17275499,17190853,17159339,17159336,17146059,17137217,17121983,17119126,17109387,17100655,17098004,17090649,17087728,17053057,17052980,17010412,16990571,16985174,16953272,16953269,10887119,2056120,16409464,3121636,9079671,12775718,7721887,8565074,12871509,8874190,15029268,3082891,3087627,6754744,1939645,3872140,14718574,9759493,18347221,18327408,18194418,18173757,18064343,18042361,17975018,16899464,16894469,16870550,16839358,16835381,16805860,16774914,16735600,16676067,16634765,16449527,16435187,16424652,16420575,16418330,16373331,16344560,16324758,16322474,16321553,16320153,16314412,16286459,16247740,16221672,16203734,16194200,16141351,16102037,16102036,15975930,15946221,15946218,15933060,15886817,15886321,15849757,15842375,15842374,11992236,11943773,11920243,11914659,11877281,11869299,11864703,11859851,11843298,11843287,11843285,11776314,11776313,11756664,11755948,11736957,11722428,11698279,11583318,11236861,11056094,10961880,10880054,10831592,10764791,10737800,10607717,10480607,9570915,9553097,9407109,9373253,9331419,9218428,9215757,8839833,8622978,8590955,8547152,8486782,8435341,8376405,8348943,8338947,8318738,8123844,8123843,8088787,8011991,7989040,7789955,7734373,7620154,6336654,3875078,3874428,3873280,3524673,3502076,3496594,3495266,3490481,3489923,3489483,3488775,3488076,3089784,3033024,3019665,2864688,2828057,2786201,2584182,2557900,2251280,2011604,2010538,1988154,1988024,1906179,1832934,1761120,1737795,1729889,1673047,1672694,1439770,1429668,1420817,1419804,1419803,1409710,11098050,9312128,15842373,15831502,15824096,15816602,15809291,15799029,15764659,15748247,15748246,15735796,15514009,15471879,15467896,15459008,15382239,15377475,15331450,15322948,15257287,15249683,15226181,15219197,15203711,15150074,15102023,15087444,15079089,15005754,14995987,14760718,14755371,14727255,14727254,14717981,14717980,14717782,14691575,14630802,14604963,14525793,14517489,14512308,14507115,12958606,12883448,12871466,12871266,12860973,12851529,12815111,12791651,12737944,12729795,12719775,12676191,12668663,12665801,12649144,12646253,12624629,12582178,12579041,12543870,12511565,12477932,12456504,12447349,12445472,12406074,12393736,12393698,12393671,12381897,12362242,12361948,12215337,12183630,12163004,12091053,12087105,12083486,12082590,12070018,12069583,12036879,12792699,12036871,12006654,11992244 1580642,1580643,1580647,1580648,1625712,1625709,1625710,1625711,1580644,1580645,1580446 7450 AC005845,AC005846,AC005904,CH471116,M16946,M25828,M25865,M60675,X06829,AF086470,AK292122,BC022258,BG951111,NM_000552,BQ898017,DB293903,K03028,M10321,M17588,U81237,X02672,X04146,X04385 NP_000543,EAW88814,EAW88815,EAW88816,EAW88817,EAW88818,AAA61294,AAB59458,AAA61295,BAF84811,AAH22258,AAA61293,AAB59512,AAA65940,AAB39987,CAA26503,CAA27765,CAA27972,P04275,Q8TCE8,Q9UD22 Hs.440848 GDB:119125 F8VWF|VWD protein-coding 1346863 VWFP von Willebrand factor pseudogene 1988024,1487245 7451 AC005301,X66120,NG_001212 GDB:119899 F8VWFL|F8VWFP pseudo 1352980 VWS Van der Woude syndrome 7452 GDB:120532 1605391 WAC WW domain containing adaptor with coiled-coil The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. 17081983,16964243,16713569,16189514,15489334,15164054,14702039,12477932,11827461,11347906,11223034,11042152,9373149,8125298 51322 NM_100264,NM_016628,NM_100486,AL161936,AL358234,CH471072,AB058747,AF208858,AK055852,AK091453,AK223600,AK225846,AK290174,AL713727,BC004258,BC010356 NP_567822,NP_057712,NP_567823,CAI40921,CAI40922,CAI40923,CAI40924,EAW86032,EAW86033,EAW86034,EAW86035,EAW86036,EAW86037,EAW86038,EAW86039,EAW86040,EAW86041,EAW86042,BAB47473,AAF64272,BAB71029,BAD97320,BAF82863,CAD28517,AAH04258,AAH10356,Q5JU75,Q5VXK1,Q9BTA9,Q9NZE0,Q9P1G8 Hs.435610 BM-016|MGC10753|PRO1741|Wwp4|bA48B24|bA48B24.1 protein-coding 1319037 WAPAL wings apart-like homolog (Drosophila) 15231747,17113138,17382297,17112726,17081983,15620708,15383329,15345747,15302935,15164054,15150110,12477932,9039502 23063 AL731569,AL844892,CH471142,AB065003,AF479418,AK000849,AK027005,AK290138,BC017393,NM_015045,BC036507,BC105991,BC140858,BC150269,D87450 NP_055860,CAI16708,CAH73376,CAH73379,EAW80334,EAW80335,EAW80336,EAW80337,BAC78631,AAO14651,BAF82827,AAH17393,AAI40859,AAI50270,BAA13391,Q7Z5K2,Q8WVX6 Hs.203099 FOE|KIAA0261|WAPL protein-coding 1317961 WARS tryptophanyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. 1580863 1761529,16130169,18180246,17877375,16798914,16724112,16083285,15939065,15628863,15489334,14702039,14671330,14660560,14630953,12477932,12416978,11834741,11829477,11773626,11773625,11474204,9731757,8864140,8724762,8646895,7925483,7685728,1765274,1763065,1537332,1373391,1286667,16702215 7453 S82904,S82905,X67923,AK025487,AK056100,AK130698,AK291141,AV710027,BC017489,BC095453,BG717903,BM561448,BM834473,BX248006,CR590717,CR592442,CR592745,CR593130,CR593984,CR594500,CR595301,CR596121,CR598767,CR599251,CR601972,CR602143,CR603505,CR604373,CR604691,CR608018,CR608934,CR611480,CR612095,CR616378,CR620683,CR623856,CR623966,CR626567,CR626779,CR626840,M61715,M77804,X59892,X62570,NM_213645,NM_173701,NM_213646,NM_004184,AL135838,AL157871,CH471061 EAW81701,EAW81702,EAW81703,AAB39380,AAB39381,CAB94199,BAF83830,AAH17489,AAH95453,CAD62335,AAA61298,AAA67324,CAA42545,CAA44450,P23381,P78534,Q502Y0,Q53XB6,NP_998810,NP_776049,NP_998811,NP_004175,EAW81700 Hs.497599 GDB:119632 GAMMA-2|IFI53|IFP53 protein-coding 1318471 WARS2 tryptophanyl tRNA synthetase 2, mitochondrial Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. 1580863 16710414,17726052,16341674,15489334,14757836,12477932,10828066,10072595,9373149,8125298 10352 NM_201263,NM_015836,AL139420,AL359823,AL590288,CH471122,AJ242739,AK223197,BC021722,BC039889,BC044575,BM834499,CR590727,CR599172,CR621696 NP_957715,NP_056651,CAH71367,CAH71368,EAW56693,EAW56694,CAB63107,BAD96917,AAH44575,Q5VUD1,Q9UGM6 Hs.523506 GDB:9956435 TrpRS protein-coding 1349471 WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia) The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. 1599803,1580863 14504083,12969986,12872157,12791263,12769846,12727931,12665801,12591280,12530983,12504004,12477932,12429845,12351383,12235133,12213210,12200375,12196287,12177428,12135674,12124997,12073025,12029088,11950596,11943145,11877312,11793485,11748279,11721045,11711533,11598004,11340081,11313252,11242115,11146629,11052943,10967094,10759756,10747096,10724160,10713100,10563804,10532312,10447259,10381382,10360578,10358777,10224664,10068673,10066431,9742969,9713366,9683546,9488710,9445409,9405671,9307968,9126958,9098856,8892607,8824280,8810341,8805332,8805223,8757563,8643625,8528199,8528198,7795648,7753869,7565724,4161668,2904289,16189514,15735674,15558067,15494313,15652748,12769847,8625410,8069912,18043243,17890224,17724125,17719003,17711847,17703096,17400488,17390083,17296785,17242350,17065640,16901726,16804117,16709815,16511828,16488394,16372137,16360341,16293614,16285728,16278221,16246732,16002738,15985539,15821030,15772651,15728466,15699074,15592455,15588985,15497008,15489334,15469902,15389128,15361624,15235593,15166239,15130947,15001467,14707117,14559906 1599803 7454 NM_000377,NG_007877,AF115548,AF115549,AF196970,CH471224,U18935,BC002961,BC012738,BI910072,CF529565,CR591854,CR605612,CR605854,U12707,U19927 NP_000368,AAD26691,EAW50758,EAW50759,AAA60381,AAH02961,AAH12738,AAA62663,AAC50140,P42768,ABW03900 Hs.2157 GDB:120736 IMD2|THC|WASP protein-coding 1343996 WASF1 WAS protein family, member 1 The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 9843499,2775266,10381382,18287015,17901257,17696648,17101133,15670045,15506982,15489334,15280206,15048733,15048123,14702039,14506234,12931191,12872157,12855698,12477932,12447388,12429845,12181570,11146629,11130076,11052943,10970852,10563804,10532312,9889097,9804817,9732292,9463375,9307968,9039502,8605018,15494313 8936 BG719023,BI461486,CR601979,CR622893,D87459,NM_001024935,NM_001024934,NM_003931,AL590009,AL590549,AL671518,CH471051,AF134303,AI928895,AK097838,BC044591,BC068546,NM_001024936 BAA13399,Q5SZK3,Q5SZK4,Q5SZK5,Q5SZK7,Q92558,NP_001020107,NP_001020106,NP_001020105,NP_003922,CAI12485,CAI12487,CAI12488,CAI12489,EAW48325,EAW48326,EAW48327,EAW48328,EAW48329,EAW48330,AAD33052,AAH44591 Hs.75850 GDB:9785420 FLJ31482|KIAA0269|SCAR1|WAVE|WAVE1 protein-coding 1316411 WASF2 WAS protein family, member 2 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. 1580863 10970852,9732292,17101133,17591693,17501982,17459058,17081983,17020969,16899465,16710414,16702231,16638851,16401421,15670045,15657136,15489334,15280206,15107862,15070726,15048123,12477932,12181570,12054568,11773052,11246027,11146629,11130076,11073096,10532312,10427990,10381382,10202051,9950691,9889097,9804817,9307968 10163 NM_006990,AL096774,AL663122,BX293535,CH471059,AB026542,AK025566,AK075231,BC012329,BC032380,BC032724,BC040943 NP_008921,CAC18518,EAX07753,BAA81795,BAC11488,AAH32724,AAH40943,Q05BU7,Q8NBU0,Q9Y6W5 Hs.590909 GDB:9955337 SCAR2|WAVE2|dJ393P12.2 protein-coding 1346468 WASF3 WAS protein family, member 3 This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. 1580863 10381382,17623672,15907837,15826941,15752430,15670045,15280206,15057823,12856283,12477932,12185600,12168954,11246027,11146629,11073096,10048485,9732292,8889548,8137235 10810 NM_006646,AL159978,AL163538,AL353789,CH471075,AB020707,AB026543,AF134305,AF454702,AK289845,AL133590,BC050283,BU736040,S69790 NP_006637,CAI14691,EAX08388,EAX08389,BAA74923,BAA81796,AAD33054,AAL51032,BAF82534,AAH50283,Q5T8P4,Q86VQ2,Q9UPY6 Hs.635221 GDB:9958363 Brush-1|KIAA0900|SCAR3|WAVE3 protein-coding 1626545 WASF4 WAS protein family, member 4 This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, most closely resembles the gene encoding the WAS protein family member 2, which is located on chromosome 1. 644739 NM_001102604,NG_007616,AJ509090,AL022578 NP_001096074,CAD48858 Hs.512079 pseudo 1353645 WASF5P WAS protein family, member 5 pseudogene This gene is a pseudogene belonging to the family of genes encoding Wiskott-Aldrich syndrome (WAS) proteins, which are involved in the transmission of signals to the actin cytoskeleton. Wiskott-Aldrich syndrome is a disease of the immune system. This pseudogene, which is apparently not transcribed, resembles the gene encoding the WAS protein family member 3, which is located on chromosome 13. 387122 NG_007617,AL671883 pseudo 1626557 WASH1 WAS protein family homolog 1 18159949,15233989,15146197,14702039,12477932,11701968,10655549,8889548 375690 NM_182905,AL928970,BM970740,CN404407,CR612421,CR621334,CR621474,AK024448,AK289708,AK309568,AY341937,BC014406,BC063893 NP_878908,A8K0Z3,Q9H7N0,Q9NSV7,AAI56860,BAB15738,BAF82397,AAQ76876 Hs.446466,Hs.459573,Hs.521961,Hs.653231 FAM39E|FLJ00038|FLJ75027|FLJ99609 protein-coding 1606388 WASH4P WAS protein family homolog 4 pseudogene 18159949,15616553,11701968,9054936 374677 NG_003159,Z84812 A8MWX3 CXYorf1P|FAM39CP|FLJ31670 pseudo 1602140 WASH6P WAS protein family homolog 6 pseudogene 18159949,15252450,15233989,14702039,12566406,12477932,11701968,10655549 653440 AJ271736,AI042587,AK092583,BC029274,BC047449,BC053987 CAB96818,AAH29274,Q8N305,Q9NQA3 Hs.446466,Hs.459573,Hs.653231 CXYorf1|FAM39A protein-coding 1347655 WASL Wiskott-Aldrich syndrome-like The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. The WASL gene product is a homolog of WAS protein, however, unlike the latter, it is ubiquitously expressed and shows highest expression in neural tissues. It has been shown to bind Cdc42 directly, and induce formation of long actin microspikes. 1299640,1580863 14732713,16253999,16293614,9422512,18191793,17573773,17085436,16885158,16767080,16687395,16531231,16246732,15699051,15489334,15260990,15169891,15102814,14702039,12872157,12871950,12853948,12477932,12456725,12437929,12372256,11830518,11698281,11584276,11340081,11179684,11146629,11082044,11052943,10867004,10781580,10724160,10704453,10563804,10491394,10467124,10381382,10087612,9950691,9822597,9582270,9322739,14506234,11157975,14697212,15791211 1299640 8976 NM_003941,CH236947,CH471070,E15468,AK023554,AK131016,AK289795,AM295156,BC013776,BC028602,BC052955,CB990698,CR591885,CR749438,D88460 NP_003932,EAL24333,EAW83599,BAF82484,CAL26602,AAH52955,CAH18276,BAA20128,O00401,Q68DE4 Hs.143728 GDB:9957999 DKFZp779G0847|MGC48327|N-WASP|NWASP protein-coding 1312705 WBP1 WW domain binding protein 1 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by a conserved region: XPPXY motif. The function of this protein has not been determined. 1580863 15064722,7644498,15489334,14702039,12477932,11042109,9202023,9169421 23559 NM_012477,AC005041,CH471053,AF087888,AK094297,BC010012,BC064482,BC071626,BC071850,CR607952,CR618691,CR619748,CR626166,U79457 NP_036609,EAW99656,AAP97187,AAH10012,AAH64482,AAH71626,AAH71850,AAD10950,Q7Z504,Q96G27,ABM84001,ABW03564 Hs.516114 GDB:11502526 MGC15305|WBP-1 protein-coding 1317378 WBP11 WW domain binding protein 11 This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. 1580863 16713569,10593949,17081983,16189514,16162498,15635413,15489334,14640981,12477932,11375989,10744724 51729 NM_016312,AC007655,AC010168,CH471094,AB029309,AF118023,BC001621,BC016441,BC023532,BX647347,CR607984 NP_057396,EAW96328,EAW96329,BAA88410,AAD30425,AAH01621,AAH16441,AAH23532,Q9Y2W2,ABM83466,ABM86677 Hs.655138 GDB:11502530 DKFZp779M1063|NPWBP|SIPP1 protein-coding 1625137 WBP11P1 WW domain binding protein 11 pseudogene 1 12477932 441818 XR_017309,XR_018374,NR_003558,AC009835,BC059403 Hs.549773 HsT3017 pseudo 1348215 WBP2 WW domain binding protein 2 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein, which binds to the WW domain of Yes kinase-associated protein by its PY motifs. The function of this protein has not been determined. 1580863 7644498,16772533,16344560,16094384,15489334,14702039,14531730,12477932,11042109,9202023,9169421 23558 NM_012478,NG_007266,AC087289,CH471099,AF087866,AK057881,AK094458,AK128407,AL049981,BC007452,BC010616,CR590489,CR596623,CR597688,CR597715,CR597910,CR599529,CR603005,CR604062,CR604992,CR605816,CR609382,CR609856,CR610819,CR613355,CR613461,CR613589,CR613793,CR614838,CR615069,CR615438,CR616083,CR616842,CR617519,CR623226,CR623351,CR623690,CR623721,CR625404,CR625985,CR626541,DA278794,CR602003 NP_036610,EAW89325,EAW89326,EAW89327,EAW89328,EAW89329,AAP97175,BAC04360,BAC87424,CAH56417,AAH07452,AAH10616,Q659G5,Q6ZR90,Q7Z511,Q8N9H4,Q969T9,ABM81978,ABM85157 Hs.514489 GDB:11502528 MGC18269|WBP-2 protein-coding 1604730 WBP2NL WBP2 N-terminal like WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM] 17289678,15461802,12477932 164684 NM_152613,CH471095,Z99716,AF393575,AK128138,AK129656,BC022546,BC022549,CR456400 NP_689826,EAW60483,CAI41694,AAQ02873,AAH22546,AAH22549,CAG30286,Q6ICG8 Hs.655541 FLJ26145|MGC26816|PAWP protein-coding 1348548 WBP4 WW domain binding protein 4 (formin binding protein 21) This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. 727741,1580863 15489334,15057823,14702039,12477932,10748127,9724750,8605874,15837427 727741 11193 NM_007187,AL157877,CH471075,AF071185,AK000979,AK001557,BC104879,BC108310,CR624814 NP_009118,CAI13223,EAX08643,EAX08644,AAC34811,AAI04880,AAI08311,O75554 Hs.411300 GDB:9957076 FBP21|MGC117310 protein-coding 1352656 WBP5 WW domain binding protein 5 The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein. This gene also encodes a domain with similarity to the transcription elongation factor A, SII-related family. Alternative splicing results in multiple transcript variants encoding a single isoform. 737633 17353931,15772651,15489334,12477932,10931946,9171351 737633 51186 BQ003038,CR613173,NM_016303,NM_001006612,NM_001006613,NM_001006614,CH471190,Z92846,AF125535,AL833152,BC023544,BG400091 Q9UHQ7,ABZ92330,NP_057387,NP_001006613,NP_001006614,NP_001006615,EAW54713,CAD12327,AAF17229,AAH23544 Hs.533287 DKFZp313K1940|TCEAL9 protein-coding 1344485 WBS2 Williams-Beuren syndrome type 2 1583646 7457 GDB:132426 1316823 WBSCR16 Williams-Beuren syndrome chromosome region 16 This gene encodes an RCC1-like G-exchanging factor. It is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. 1580600,1580863 16381901,15489336,15489334,12477932,12073013,11230166,11076863 1580600 81554 NM_030798,AC124781,CH471292,AF410455,AI701939,AK057870,AL136804,AL536085,BC007823,BC019008,BC032712,BC040695,CR595395 NP_110425,EAW52090,EAW52091,EAW52092,AAM62304,CAB66738,AAH07823,AAH19008,AAH32712,AAH40695,Q0JV99,Q8IW88,Q8N572,Q96I51,CAL37561,ABM84095 Hs.661261 GDB:11508705 DKFZp434D0421|MGC44931 protein-coding 1342451 WBSCR17 Williams-Beuren syndrome chromosome region 17 This gene encodes an N-acetylgalactosaminyltransferase, which has 97% sequence identity to the mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. 15744064,15489334,14702039,12690205,12477932,12073013,11013070,7566098 64409 AC004874,AC004963,AC073330,AC079398,AC091731,AC092021,CH236952,CH471140,AB078148,AF410457,AJ626726,AK022143,AK091379,AK094958,AK126044,AK290036,AL137431,BC067524,BC067525,BC069624,BC069628,NM_022479,BC069636,BC069645,BC069997,CR749675 Q2L4S5,Q58A53,Q68CW8,Q6IS24,NP_071924,EAL23969,EAX07897,EAX07898,EAX07899,EAX07900,BAD93180,AAM62306,CAF25037,BAF82725,CAB70734,AAH67524,AAH67525,AAH69624,AAH69628,AAH69636,AAH69645,AAH69997,CAH18466 Hs.488591 GDB:11508843 DKFZp434I2216|DKFZp761D2324|GALNT16|GALNT20|GALNTL3 protein-coding 1348350 WBSCR18 Williams Beuren syndrome chromosome region 18 This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. 1580600,1580863 15489334,15231747,14702039,12853948,12477932,12073013 1580600 84277 NM_032317,AC073846,CH471200,AF412025,AK058113,AK094305,BC005056,CR596408,CR623869 NP_115693,AAS07471,EAW69658,AAM62307,BAB71671,AAH05056,Q96LL9 Hs.647046 GDB:11508854 MGC12943 protein-coding 1345167 WBSCR19 Williams Beuren syndrome chromosome region 19 This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. 12073013 285955 NM_175064,AC004951,AF412027,AL137266 NP_778234,AAM62309,CAB70665,Q8NFV5 Hs.645483 GDB:11508853 DKFZp434A1014|Ringo1 protein-coding 1351341 WBSCR2 Williams-Beuren syndrome chromosome region 2 8812460 7459 GDB:6948901 1344086 WBSCR22 Williams Beuren syndrome chromosome region 22 This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. 1580601,1580863 11124703,15635413,15498874,15489334,14702039,12853948,12477932,12073013,11978965 1580601 114049 NM_017528,AC073846,CH471200,AF218007,AF412034,AF420248,AJ224442,AK091162,AK291116,BC000169,BC001780,BC011696,CR602260,CR603690,CR615237,CR623572,CR623973 NP_059998,AAS07473,AAS07474,EAW69656,EAW69657,AAG17249,AAM62316,AAL16066,CAA11944,BAF83805,AAH00169,AAH01780,AAH11696,O43709,Q75ME3 Hs.647063 GDB:11508501 HASJ4442|HUSSY-3|MGC19709|MGC2022|MGC5140|PP3381|WBMT protein-coding 1354166 WBSCR23 Williams-Beuren syndrome chromosome region 23 This gene is intronless and mapped to the commonly deleted region for Williams-Beuren Syndrome. 1580863 14702039,12853948,12477932 80112 A0AVD7,Q9H6D5 NM_001039145,AC004851,CH471200,AK026020,BC126309 NP_001034234,AAS00363,EAW69602,BAB15324,AAI26310,A0AVD7,Q9H6D5 Hs.677364 GDB:11508148 FLJ22367 protein-coding 1347580 WBSCR25 Williams Beuren syndrome chromosome region 25 171021 GDB:11508949 1342590 WBSCR26 Williams Beuren syndrome chromosome region 26 171022 BU595969 Hs.650513 GDB:11508950 protein-coding 1352777 WBSCR27 Williams Beuren syndrome chromosome region 27 This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. 15489334,12477932 155368 NM_152559,AC093168,CH471200,AF534110,AY354928,BC030295 NP_689772,EAW69638,AAN63884,AAQ55828,AAH30295,Q8N6F8,ABM85581 Hs.647042 MGC40131 protein-coding 1602434 WBSCR28 Williams-Beuren syndrome chromosome region 28 12477932,8812460 135886 NM_182504,AC093168,CH471200,AA426067,AY372053,AY372054,BC030643 NP_872310,EAW69637,AAQ74835,AAQ74836,AAH30643,Q6UE05 Hs.647026 MGC26719 protein-coding 1353299 WBSCR3 Williams-Beuren syndrome chromosome region 3 8812460 7460 GDB:6948902 1314357 WDFY1 WD repeat and FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains a single FYVE domain and multiple WD40 repeats. This protein is localized to endosomes. 11739631,15489334,14702039,12477932,10718198 57590 NM_020830,AC073641,CH471063,AA411290,AB037856,AF411977,AJ310568,AK022888,AK023415,BC040525,BC065934,BF223120,N27710 NP_065881,AAY14924,EAW70817,EAW70818,BAA92673,AAL04161,CAC83947,BAB14294,BAB14569,AAH40525,AAH65934,Q53S17,Q8IWB7,Q9H8N9 Hs.708107 FENS-1|WDF1|ZFYVE17 protein-coding 1316474 WDFY2 WD repeat and FYVE domain containing 2 This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. 16792529,16344560,15489334,14702039,12477932,17313651,16873553 115825 NM_052950,AL136525,AL139183,CH471075,AF411978,AK058149,AK093224,BC014004,CR612847,DA124107 NP_443182,EAX08883,AAL04162,BAB71687,AAH14004,Q5W0C0,Q96LK4,Q96P53 Hs.208550 PROF|RP11-147H23.1|WDF2|ZFYVE22 protein-coding 1316086 WDFY3 WD repeat and FYVE domain containing 3 This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 10231032,9847074,9110174,8619474,15815621,15489334,15292400,14702039,12477932,12168954 23001 AK092019,AK092394,AK094910,BC013377,BC015214,BC065502,BC119633,BC148294,BC148298,BC150246,BX648077,BX648153,NM_014991,NM_178585,NM_178583,AC095046,AC104082,AC108021,AC110806,CH471057,AB023210,AF131845,AF538685,AI393222,AI962188,AK055806 BAC03791,BAC04455,AAH13377,AAH15214,AAH65502,AAI19634,AAI48295,AAI48299,AAI50247,Q8IZQ1,Q8N1Z0,NP_055806,NP_848700,NP_848698,AAY40903,EAX05952,EAX05953,EAX05954,EAX05955,EAX05956,BAA76837,AAN15137,BAB71020 Hs.480116 ALFY|KIAA0993|MGC16461|ZFYVE25 protein-coding 1350991 WDFY4 WDFY family member 4 737633 14702039,12477932,11181995,10997877 737633 57705 AC035139,AC060234,AC068898,CH471187,AB046827,AK024502,AK074085,AK074443,AL833669,BC015694,BC032420,BC047574,CR610316,XM_001714299 EAW93117,EAW93118,EAW93119,EAW93120,EAW93121,EAW93122,BAB13433,BAB15792,BAB84911,AAH15694,AAH32420,AAH47574,Q6PIM1,Q86WZ4,XP_001714351,Q8TEN7,Q96BE1,Q9H7H8,Q9HCG5 Hs.287379 KIAA1607 protein-coding 1320961 WDHD1 WD repeat and HMG-box DNA binding protein 1 The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. 1580863 9175701,17761813,17081983,15489334,15302935,14702039,12477932 11169 NM_001008396,NM_007086,AL160471,CH471061,AJ006266,AK001538,AK001585,AK001620,AK293005,AY517556,BC000622,BC005040,BC043349,BC063041,BQ420741 NP_001008397,NP_009017,EAW80654,CAA06932,BAF85694,AAT44529,AAH00622,AAH05040,AAH43349,AAH63041,O75717,Q05DR3,Q5GJ66 Hs.385998 AND-1 protein-coding 1314033 WDR1 WD repeat domain 1 This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. 1580863 10036186,15629458,15592455,15489334,15231747,12665801,12477932,10366597,9373149,8125298,1602151,16189514 9948 NM_005112,NM_017491,AC005674,AC093664,CH471069,AB010427,AB209746,AF020056,AF020260,AF274954,AK127665,AK222764,AK222897,AK225276,AL050108,AL110208,BC000201,BC002489,BC030541,BG724171,BI831941,BX648190,CR595687,CR600870,CR608550 NP_005103,NP_059830,EAW92686,EAW92687,EAW92688,EAW92689,BAA31855,BAD92983,AAD05044,AAD05045,AAK07530,BAD96484,BAD96617,CAB43276,CAB53674,AAH00201,AAH02489,AAH30541,O75083,Q53GN4,Q53H17,Q59ER5,Q9BZT4 Hs.128548 GDB:9958506 AIP1|NORI-1 protein-coding 1353160 WDR12 WD repeat domain 12 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The function of this protein is not known. 1580863 17353269,17041588,16043514,15635413,15489334,14702039,12477932,12429849,11827460,11790298 55759 NM_018256,AC010900,CH471063,AF242546,AK001743,AK022781,AK022782,AK056092,BC008082,CR589963,CR613990,CR622430,EF011617 NP_060726,AAY24287,EAW70318,EAW70319,AAF60355,BAA91875,BAB14242,BAB14243,AAH08082,ABK41107,Q53T99,Q9GZL7,ABM83800,ABM87122 Hs.73291 GDB:11508150 FLJ10881|FLJ12719|FLJ12720|YTM1 protein-coding 1347566 WDR13 WD repeat domain 13 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is widely expressed in various tissues, and located in chromosome X. The function of this gene has not been determined. 1580863 15761153,15489334,14702039,12659815,12477932,9373149,8125298 64743 NM_017883,AC115618,AF149817,CH471224,AF158978,AF329819,AK000570,AK225542,BC002507,BC067094,BC080579,BX649101,CR591373,CR593655,CR594799,CR595978,CR597236,CR598742,CR598919,CR601096,CR601751,CR602069,CR602306,CR602965,CR603392,CR604375,CR613575,CR616329,CR619297,CR620990,CR621485,CR623068,CR623686,CR624965,DQ907252,DQ907253,DQ907254,DQ907255,L08237 NP_060353,AAK13247,EAW50760,EAW50761,EAW50762,AAG47845,BAA91261,AAH02507,AAH67094,AAH80579,ABI93266,ABI93267,ABI93268,ABI93269,AAA74509,Q06DW8,Q06DW9,Q06DX0,Q06DX1,Q14827,Q6NXG4,Q9H1Z4 Hs.521973 GDB:11508152 DKFZp779C2057|FLJ20563|MG21 protein-coding 1348671 WDR16 WD repeat domain 16 WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM] 15967112,16344560,15489334,14702039,12477932 146845 NM_145054,NM_001080556,AC087501,AC118755,CH471108,CQ756572,AB065281,AI553675,AK074435,AK094847,BC025392,DB040461 NP_659491,NP_001074025,EAW90024,EAW90025,EAW90026,EAW90027,CAF32596,BAB83743,BAB85083,BAC04435,AAH25392,Q8N1V2 Hs.232270 GDB:11508823 FLJ37528|WDRPUH protein-coding 1349408 WDR17 WD repeat domain 17 This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis. Alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. 17286855,15342556,12401215 116966 NM_170710,NM_181265,AC093605,CH471056,AF492460,AK098748,AK130128,BC146812,BI713775,BM875452,BQ270403,BX648508,DQ426895,DQ426896 NP_733828,NP_851782,EAX04723,AAN64030,BAC05402,ABD90546,ABD90547,Q0QD35,Q8IZU2,Q8N797,AAI66623 Hs.532056 GDB:11508880 FLJ26618 protein-coding 1321673 WDR18 WD repeat domain 18 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. 15635413,15489334,15057824,12477932,11790298 57418 NM_024100,AC004528,AC005391,CH471139,AK131009,AL560525,BC000040,BC001648,CB991338,CR592965,CR593523,CR594394,CR595453,CR595734,CR607398,CR608369,CR596996,CR598079,CR598373,CR599695,CR599979,CR602625,CR606441,CR611615,CR613038,CR615734,CR616693,CR616757,CR617758,CR620331,CR621568,CR621572,CR622581,CR622892,CR623880,CR625348,CR626487,CR608621 NP_077005,AAC12679,EAW69578,AAH00040,AAH01648,Q9BV38 Hs.325321 GDB:11508154 MGC2436|R32184_1 protein-coding 1353133 WDR19 WD repeat domain 19 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. 18316561,15489334,14702039,12906858,12477932,10997877,9373149,8125298 57728 NM_025132,AC093855,CH471069,AB046858,AK026780,AK122908,AK225588,AY029257,BC032578 NP_079408,EAW92915,EAW92916,EAW92917,EAW92918,EAW92919,EAW92920,EAW92921,BAB13464,BAB15550,AAK38745,AAH32578,Q8NEZ3 Hs.438482 GDB:11508956 FLJ23127|KIAA1638|ORF26|PWDMP protein-coding 1315150 WDR20 WD repeat domain 20 This gene encodes a WD repeat-containing protein. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 17081983,15489334,14702039,12477932,9373149,8125298 91833 NM_181291,NM_144574,NM_181308,NM_181302,AL133223,AL359402,CH471061,AB209148,AF327354,AK054748,AK056330,AK090580,AK090978,AK225852,AL133558,AL832242,AL832500,BC028387,BC030654,BX248274,CR599444 NP_851808,NP_653175,NP_851825,NP_851819,EAW81769,EAW81770,EAW81771,BAD92385,AAL56014,CAB63713,CAI46118,AAH28387,AAH30654,CAD62602,Q59GG1,Q5JPH5,Q86TU2,Q8NCN7,Q8TBZ3,ABM82456,ABM85645 Hs.36859 GDB:11511209 DMR|FLJ33659|MGC33177|MGC33183 protein-coding 1314746 WDR21A WD repeat domain 21A This gene encodes a WD repeat-containing protein. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 15489334,14702039,12477932 26094 CH471061,AK027745,AL080157,BC018979,BC035901,BX161489,BX247962,NM_015604,NM_181341,NM_181340,AC007160,AL442663 EAW81081,EAW81082,EAW81083,BAB55337,CAB45748,AAH18979,AAH35901,CAD61938,CAD62301,Q86SY2,Q8IV10,Q8WV16,NP_056419,NP_851938,NP_851937 Hs.331491 DKFZp434K114|MGC20547|MGC46524|WDR21 protein-coding 1604959 WDR21B WD repeat domain 21B 16344560,14702039,12477932 285429 NM_001029955,AC106052,CH471069,AK122914,BC035027,BC052943,BC104224,BC104225,DB100231 NP_001025126,EAW92995,AAH35027,AAH52943,AAI04225,AAI04226,Q3SXM0 Hs.213307 MGC126021|MGC126022 protein-coding 1606458 WDR21C WD repeat domain 21C 15489334,14702039,12477932 138009 NM_152418,AC005066,CH471060,AK093094,AK097600,AL833507,BC035011,BC111778 NP_689631,EAW91650,BAC04051,BAC05113,AAI11779,Q8N7W3,Q8NA75 Hs.371738 FLJ35775|MGC133227 protein-coding 1315207 WDR22 WD repeat domain 22 14702039,12477932,11347906,9740667,9521877 8816 NM_003861,AL391262,CH471061,AB058727,AF044774,AK054692,AL831823,AL831932,AL834533,BC013239,BC022967,BC136632,BX648006,CR619376 NP_003852,EAW80979,EAW80980,EAW80981,EAW80982,EAW80983,BAB47453,AAC08965,CAD38537,CAD38589,CAD39189,AAH22967,AAI36633,Q8NCX5,Q8TBB7,Q96JK2 Hs.509780 BCRG2|BCRP2|D14S1461E|DKFZp434A035|KIAA1824 protein-coding 1322665 WDR23 WD repeat domain 23 This gene encodes a WD repeat-containing protein. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. 15489334,14702039,12508121,12477932 80344 NM_025230,NM_181357,AL136295,CH471078,AB209073,AF130070,AF267858,AK027223,AK057636,AK074296,AK091857,AK094478,AK292797,AL833831,BC008858,BC067132,BX161405,BX247970,BX648224,CR591345,CR591826,CR593514,CR608759,CR611586,CR612369,CR614614,CR616798 NP_079506,NP_852002,EAW66108,EAW66109,EAW66110,EAW66111,EAW66112,EAW66113,EAW66114,BAD92310,AAG35498,AAG44727,BAB15698,BAB85041,BAF85486,CAD38691,AAH08858,AAH67132,CAD61885,CAD62308,Q59GN6,Q8TEB1 Hs.525251 DKFZp779A1629|GL014|PRO2389 protein-coding 1344935 WDR24 WD repeat domain 24 16381901,16189514,15489336,15489334,12477932,11230166,11157797,11076863 84219 NM_032259,AE006464,CH471112,Z92544,AL136863,BC008025,BC009761 NP_115635,AAK61244,EAW85751,EAW85752,EAW85753,CAM26347,CAB66797,AAH08025,AAH09761,Q0JTI5,Q96S15,CAL38177 Hs.459632 DKFZp434F054|JFP7 protein-coding 1606781 WDR25 WD repeat domain 25 16189514,15587985,15489334,12477932 79446 NM_024515,AL135838,AL845552,CH471061,AK291960,AY295082,BC003641,BC007953,BC067872,BX248767,CR600063,CR621842 NP_078791,EAW81704,EAW81705,EAW81706,BAF84649,AAQ63174,AAH03641,AAH67872,CAD66574,Q64LD2 Hs.497600 MGC4645 protein-coding 1348746 WDR26 WD repeat domain 26 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. 15378603,17081983,17041588,15489334,14702039,12477932,9373149,8125298 80232 NM_025160,NM_001115113,AC099790,CH471098,AB209887,AK023023,AK024669,AK027236,AK225061,AY221751,AY304473,BC031471,BC034498,BC041978,BC052301,BC063817,BG744504,CF786114,CR593691,CT002105,EF011612 NP_079436,NP_001108585,EAW69720,EAW69721,EAW69722,EAW69723,EAW69724,BAD93124,BAB14955,AAO67709,AAQ74770,AAH31471,AAH34498,AAH52301,AAH63817,ABK41102,Q9H7D7 Hs.497873 CDW2|FLJ21016|MIP2 protein-coding 1351994 WDR27 WD repeat domain 27 16344560,12477932 253769 NM_182552,AL031315,AL135910,AL441927,AL513547,CH471051,AK128656,AK131435,BC040606,BC073148,BC131633,BC142982,BX648854,DB292377,DB457719 NP_872358,CAI12313,EAW47447,EAW47448,EAW47449,EAW47450,BAC87552,BAD18581,AAI31634,AAI42983,A2RRH5,Q6ZMZ4,Q6ZQX9,Q8IW98 Hs.131903 MGC43690 protein-coding 1316699 WDR3 WD repeat domain 3 This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. 1580863 10395803,16565220,15635413,14702039,12477932,12429849,11790298,9628821 10885 NM_006784,AL121993,CH471122,AB209201,AF083217,AK022858,AK292438,BC058836,CR620639 NP_006775,CAI22739,EAW56684,EAW56685,EAW56686,BAD92438,AAD45865,BAF85127,AAH58836,Q59GA8,Q5TDG3,Q6PDA5,Q9UNX4 Hs.310809 GDB:9958446 FLJ12796 protein-coding 1319678 WDR31 WD repeat domain 31 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some variants has not been determined. 737633 15489334,14702039,12477932,114987 737633 114987 NM_001006615,NM_001012361,NM_145241,AL137066,AL449305,CH471090,AK074891,AK093240,AK129868,AL833635,BC012352,BC022982,BE870625,BX279630 NP_001006616,NP_001012361,NP_660284,CAH70096,CAI10961,EAW87368,EAW87369,EAW87370,EAW87371,EAW87372,EAW87373,BAC11271,BAC04106,AAH12352,Q5W0T9,Q5W0U0,Q8NA23,Q8NC90,ABM84561,ABW03487 Hs.133331 FLJ35921 protein-coding 1352348 WDR32 WD repeat domain 32 1580863 14702039,12477932 79269 NM_024345,AL138752,CH471071,AK023620,AK026854,AK074532,AL533994,BC003520,BC011959,BC108686,BC139834,CB045943,CD299973 NP_077321,CAI13878,EAW58261,EAW58262,EAW58263,BAB15574,BAC11043,AAH03520,AAH11959,AAI08687,AAI39835,Q5QP82 Hs.118394 FLJ23201|MGC10765|MGC131781 protein-coding 1319455 WDR33 WD repeat domain 33 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 1580863 17353931,11162572,17081983,16169070,15761153,14702039,12477932,9373149,8889549,8125298 55339 BC068484,BC108671,CR591938,BC013990,NM_018383,NM_001006623,NM_001006622,AC006011,CH471103,AA142986,AB044749,AK002156,AK098003,AK123510,AK223319,AL043051,AL834365,BC005401,BC010283 AAH13990,AAH68484,Q05DP8,Q53FG9,Q587J1,Q69YF7,Q6NUQ0,Q9C0J8,Q9NUL1,NP_060853,NP_001006624,NP_001006623,AAX82033,EAW95342,EAW95343,BAB32435,BAA92113,BAD97039,CAH10688,AAH05401 Hs.620490 FLJ11294|WDC146 protein-coding 1342520 WDR34 WD repeat domain 34 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. 737633 15489334,15164053,12477932 737633 89891 CR626799,NM_052844,AL356481,CH471090,AL555205,BC001614,BC011874,BG177634,BI910783,CR591297,CR591802,CR594160,CR594244,CR596639,CR601726,CR604643,CR605290,CR605861,CR607681,CR611062,CR613767,CR614951,CR615609,CR616487,CR618259,CR618445,CR618791,CR621430,CR625055 Q96EX3,NP_443076,CAH71407,EAW87814,EAW87815,EAW87816,AAH01614,AAH11874 Hs.495240 MGC20486|RP11-216B9.5|bA216B9.3 protein-coding 1315220 WDR35 WD repeat domain 35 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. 737633,1580863 15489334,14702039,12477932,12168954,10718198 737633 57539 AB037757,AK022866,AK091205,AK122917,AL832903,BC033951,BC036659,BX476609,NM_020779,NM_001006657,AC013400,AC079145,CH471053 EAX00840,EAX00841,BAA92574,CAH10636,AAH36659,Q4ZG01,Q69YM0,Q9P2L0,NP_065830,NP_001006658,AAX88936,EAX00838,EAX00839 Hs.205427 KIAA1336|MGC33196 protein-coding 1313630 WDR36 WD repeat domain 36 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). 1580863 18195223,18172102,17960130,17563723,17353431,16966629,16876519,16723468,16518310,15677485,15635413,15590835,15177553,14702039,12477932 134430 NM_139281,AC008572,CH471086,AF385437,AK055664,AK074202,AK095312,AL832494,BC037427,BC133025,BC136517,CR600030,CR749211 NP_644810,EAW49035,EAW49036,AAM43838,BAC04527,AAI33026,AAI36518,CAH18068,Q68E02,Q8NI36 Hs.533237 DKFZp686I1650|GLC1G|TA-WDRP|TAWDRP|UTP21 protein-coding 1314666 WDR37 WD repeat domain 37 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. 16381901,16189514,15489336,15164054,14702039,12477932,11230166,11076863,10231032 22884 AB023199,AK024605,AK125050,AK128194,AK292591,AL136827,BC018044,NM_014023,AC022536,AL607085,CH471072 EAW86514,EAW86515,EAW86516,EAW86517,BAA76826,BAF85280,CAB66761,AAH18044,Q0JVA5,Q8WVG2,Q9Y2I8,CAL37555,NP_054742,EAW86513 Hs.188495 FLJ40354|KIAA0982|RP11-529L18.2 protein-coding 1625454 WDR38 WD repeat domain 38 401551 NM_001045476,AL354928,BC127949 NP_001038941,CAI39637,AAI27950,Q5JTN6 Hs.343383 protein-coding 1320425 WDR4 WD repeat domain 4 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Two transcript variants encoding the same protein have been found for this gene. 1580863 16780588,17081983,16189514,15861136,15489334,14702039,12477932,12403464,10950928 10785 NM_018669,AB039887,AP001628,AP001629,CH471079,AJ243912,AJ243913,AK056343,AK292923,BC001074,BC006341,BC018866,BG722541,BU541429,BU558089,CD368164,NM_033661 NP_387510,NP_061139,BAB13726,EAX09527,EAX09528,EAX09529,CAB93144,CAB93145,BAF85612,AAH01074,AAH06341,P57081,Q9BVM5,ABM83893,ABM87214 Hs.248815 GDB:9958279 TRM82 protein-coding 1346609 WDR40A WD repeat domain 40A This gene was identified by isolating cDNA from a size-fractionated library derived from brain in an attempt to characterize genes encoding large proteins. The function of the protein encoded by this gene has not yet been determined. 15761153,12477932,11572484,9110174,8619474 25853 NM_015397,AL354989,CH471071,AB067479,AF085907,AF131771,AK000354,AK292935,AL117646,BC008893,BC063823,BG718613,CR591883,CR622703,DQ518909 NP_056212,CAI15300,CAI15301,CAI15302,EAW58472,EAW58473,EAW58474,BAB67785,BAA91106,BAF85624,CAB56028,AAH08893,AAH63823,ABG24246,Q5T6F0 Hs.493750 DKFZp434O125|KIAA1892|MGC1058|TCC52 protein-coding 1347831 WDR40B WD repeat domain 40B This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. 737633 12477932 737633 139170 NM_178470,AL590425,CH471107,BC035674 NP_848565,CAH69964,EAX11841,AAH35674,Q5VU92 Hs.120403 KIAA1892L protein-coding 1603495 WDR40C WD repeat domain 40C 340578 NM_001013628,AL445072,CH471107,BC136673,BC136674 NP_001013650,CAH70502,EAX11842,AAI36674,AAI36675,Q5VW00 Hs.496728 protein-coding 1314938 WDR41 WD repeat domain 41 737633 15489334,14702039,12477932 737633 55255 NM_018268,AC010234,CH471084,AF115511,AK001766,AK021855,AK023977,AL834138,BC001807,BC040241,BM818066,CR616409,CR625903 NP_060738,EAW95805,EAW95806,EAW95807,AAO06948,BAA91895,BAB13915,BAB14749,CAD38853,AAH40241,Q9HAD4 Hs.482573 FLJ10904|MSTP048 protein-coding 1349472 WDR42A WD repeat domain 42A The function of this gene has not yet been determined. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. 737633 16189514,14702039,12477932,11401431,10607908,9373149,8125298 737633 50717 NM_015726,AL139011,CH471121,AI352273,AK022091,AK026213,AK026481,AK093176,AK223475,BC013107,BC080597,BC098245,BC098271,BC099709,BC099846,BC111063,CR598549,CR749801,U06631 NP_056541,CAI15993,CAI15994,CAI15995,CAI15996,CAI15997,EAW52730,EAW52731,EAW52732,BAD97195,AAH13107,AAH80597,AAH98271,AAH99709,AAH99846,AAI11064,CAH18661,AAA16607,Q5TAQ5,Q5TAQ6,Q5TAQ7,Q5TAQ8,Q5TAQ9 Hs.632447 DKFZp781G1096|FLJ35857|H326|MGC117276|MGC118891|MGC99640 protein-coding 1346743 WDR42B WD repeat domain 42B 139425 NM_001017930,AC004553,CH471074,AK128123 NP_001017930,EAW99044,EAW99045,A6NGE4 Hs.447365 FLJ46244 protein-coding 1342776 WDR42C WD repeat domain 42C 347442 AC107613,XM_293354,XM_001715194,XM_942624 XP_293354,XP_001715246,XP_947717 protein-coding 1344839 WDR43 WD repeat domain 43 1580863 17081983,16964243,16565220,16344560,12477932,12429849,8889548,7584028,7584026 23160 CR612320,CR618449,BC033206,CA311794,D26488,D87716,DA943836,NM_015131,AC097720,CH471053,AK000836,BC024234 BAA05499,BAA13441,Q15061,Q8TB67,NP_055946,EAX00522,AAH24234 Hs.169863,Hs.622982 protein-coding 1348946 WDR44 WD repeat domain 44 737633 17081983,16964243,16381901,15772651,15489336,15489334,15302935,14702039,12665801,12477932,11230166,11076863,10747849,10464283,10077598,16189514 737633 54521 AL391474,AL391803,AL391830,CH471161,AK001978,AK092077,AK127556,AL833605,AL834210,BC013924,BC028697,NM_019045,BX470418,BX537578,BX538087,BX648150 NP_061918,CAI41481,CAI41482,CAI41483,CAI41512,CAI41513,EAW89896,EAW89897,BAA92015,BAC03799,BAC87033,CAD38894,AAH28697,CAD97788,CAD98010,Q5JSH3,Q5JSH4,Q8N397,CAL38210,CAL38662 Hs.98510 DKFZp686L20145|MGC26781|RAB11BP|RPH11 protein-coding 1348509 WDR45 WD repeat domain 45 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. 737633 15602573,15489334,15020712,14702039,14671302,12477932,9373149,8125298 737633 11152 AK023344,AK225122,AY691428,BC000464,BC003037,BC009027,BC035979,BC069206,BQ068083,CR456725,CR590613,CR592753,CR594026,CR595931,CR604542,CR608446,NM_007075,NM_001029896,AF196779,AY408066,CH471224,AJ005897 AAV80764,AAH00464,AAH03037,AAH09027,AAH69206,CAG33006,Q9Y484,ABM83171,ABM86372,NP_009006,NP_001025067,EAW50695,EAW50696,EAW50697,EAW50698,EAW50699,EAW50700,EAW50701,EAW50702,EAW50703,EAW50704,CAA06754 Hs.632807 JM5|WDRX1|WIPI-4|WIPI4 protein-coding 1350558 WDR45L WDR45-like This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. 737633 15602573,15489334,15146197,15020712,12477932,11181995 737633 56270 NM_019613,AC124283,CH471099,AA861045,AF091083,AM182326,AY691427,BC000974,BC007838,CN262716,CR456770,CR593190,CR598197,CR600994,CR618973 NP_062559,EAW89808,EAW89809,EAW89810,EAW89811,EAW89812,EAW89813,EAW89814,AAC72952,CAJ57996,AAV80763,AAH00974,AAH07838,CAG33051,Q2MCP6,Q5MNZ6,Q9BVR1,ABZ92353 Hs.132161 WIPI-3|WIPI3 protein-coding 1348914 WDR45LP1 WDR45-like pseudogene 1 446205 1353590 WDR46 WD repeat domain 46 1300397 16565220,15635413,15498874,15489334,14574404,12477932,11790298,9545376,9521053 1300397 9277 AL662820,NM_005452,AL662827,AL844527,BX000343,CH471081,CR759786,CR759817,AF447870,AK292171,AK292616,BC000388,CR597118,CR604572,CR615634,CR621799 CAI18113,NP_005443,CAI17516,CAI41833,CAI41829,CAI41830,EAX03701,EAX03702,EAX03703,EAX03704,CAQ08254,CAQ08024,AAQ04645,BAF84860,BAF85305,AAH00388,O15213,Q4VXZ0,Q5HYZ0,Q5HYZ1,Q5STR3 Hs.520063 GDB:9955596 BING4|C6orf11|FP221 chromosome 6 open reading frame 11 protein-coding 1343602 WDR47 WD repeat domain 47 737633 15489334,12477932,10048485,9373149 737633 22911 AK225781,AK289789,BC034964,BC039254,NM_014969,AL449266,BX679664,CH471122,AB020700,AK074616 BAF82478,AAH34964,AAH39254,O94967,Q5TYV7,Q5TYV8,Q5TYV9,NP_055784,CAI14351,CAI14352,CAI14353,CAH71325,CAH71326,CAH71327,EAW56350,EAW56351,BAA74916 Hs.654760 FLJ90135|KIAA0893 protein-coding 1347511 WDR48 WD repeat domain 48 1580863 18032488,15489334,12885920,12477932,12196293,12168954,10819331 57599 NM_020839,AC123903,AC138124,CH471055,AB040882,AF468833,AK025513,AK074278,AL162064,AL832926,BC012861,BC026353,BC037168,BX649170,CR595795 NP_065890,EAW64548,EAW64549,EAW64550,EAW64551,BAA95973,AAL78650,CAB82402,CAH56300,AAH26353,AAH37168,CAH56182,Q8TAF3 Hs.706774 DKFZp686G1794|KIAA1449|P80 protein-coding 1354020 WDR49 WD repeat domain 49 737633 15489334,14702039,12477932 737633 151790 NM_178824,AC069530,AC079822,AC117425,CH471052,AK090939,AK097556,BC035512 NP_849146,EAW78584,BAC03552,BAC05100,AAH35512,Q8IV35,Q8N7X6 Hs.213762 FLJ33620 protein-coding 1349800 WDR5 WD repeat domain 5 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. 12670868,16946699,16878130,16829960,16829959,16713569,16340128,16189514,15960975,15960974,15635413,15489334,14702039,14657013,12477932,11551928,15199122,17353931 11091 NM_017588,NM_052821,BX649632,CH471090,AA490313,AJ011376,AK000552,AK024484,AK025810,BC001635,BC015594,BC029769,BG773451 NP_060058,NP_438172,EAW88117,EAW88118,EAW88119,EAW88120,CAB66159,BAA91248,BAB15774,AAH01635,AAH15594,P61964,Q96BH5,Q9H7J6 Hs.397638 GDB:9956463 BIG-3|SWD3 protein-coding 1353956 WDR51A WD repeat domain 51A 737633 15489334,14702039,12477932 737633 25886 NM_015426,AC097637,AC115284,CH471055,CQ783423,AF088072,AK075289,AL117629,BC007417,BC110877,BC119692,BC119693,CR603119,CR607157,CR608071,CR610123,CR611109,CR611523,CR613937,CR617280,CR617463,CR621643 NP_056241,EAW65185,EAW65186,CAF86626,BAC11525,CAB56021,AAH07417,AAI10878,AAI19693,AAI19694,Q8NBT0 Hs.476306 DKFZP434C245|MGC131902 protein-coding 1350683 WDR51B WD repeat domain 51B 737633 17041588,15489334,14702039,12477932 737633 282809 NM_172240,AB053276,AC010201,AC025034,CH471054,CQ783661,CQ783663,AB053266,AK027829,AK074772,AK123106,AK123625,AL832918,BC026080,CR594597,EF011619 NP_758440,BAB69430,EAW97425,EAW97426,EAW97427,CAF86799,CAF86800,BAB69057,Q6ZW40,Q8IU52,Q8TC44,BAC11198,BAC85666,CAH10775,AAH26080,ABK41109,Q69YK8 Hs.708031 FLJ14923|FLJ41111|TUWD12 protein-coding 1343890 WDR52 WD repeat domain 52 737633 14702039,12477932 737633 55779 BC016799,BC101582,BC113553,CR936646,NM_018338,AC023894,AC026348,AC112128,CH471052,AK002004,AK056472,AL133606 CAB63738,AAI01583,AAI13554,CAI56784,Q5CZ82,Q96MT7,Q9NUU0,Q9UF55,NP_060808,EAW79640,EAW79641,EAW79642,BAA92030,BAB71193 Hs.584936 DKFZp781C082|FLJ11142|MGC126631|MGC142113 protein-coding 1344468 WDR53 WD repeat domain 53 737633 17041588,15489334,12477932 737633 348793 NM_182627,AC092933,CH471191,BC054030,CR626169,EF011620,CR611345 NP_872433,EAW53645,EAW53646,EAW53647,AAH54030,ABK41110,Q7Z5U6 Hs.385865 MGC64882 protein-coding 1347717 WDR54 WD repeat domain 54 737633 15592455,15489334,14702039,12477932,9373149,8125298 737633 84058 CH471053,AK023015,AK222696,BC032428,BC051753,BC051848,CR620405,NM_032118,AC005041 EAW99677,EAW99678,EAW99679,EAW99680,EAW99681,BAB14358,BAD96416,AAH51753,AAH51848,Q9H977,NP_115494 Hs.643480 FLJ12953 protein-coding 1603214 WDR55 WD repeat domain 55 16344560,15489334,14702039,12477932 54853 NM_017706,AC116353,CH471062,AA974187,AK000202,AK025355,AK056861,AK122862,BC002482,BC041687,BC068485,BQ069026,DB210296 NP_060176,EAW62024,EAW62025,EAW62026,BAA91006,BAB15118,AAH68485,Q9H6Y2,Q9NXK4 Hs.286261 FLJ20195|FLJ21702 protein-coding 1606327 WDR57 WD repeat domain 57 (U5 snRNP specific) This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. 9774689,17353931,12226669,17041588,16723661,16710414,16429158,15506927,15489334,12477932,11991638,10788320,9731529 9410 NM_004814,AC114495,AL451070,CH471059,CQ782448,AF090988,AK074516,AK123103,AL157420,BC001494,BM150898,CR590081,CR602112,CR605147,CR605394,CR609455,CR610792,CR611220,CR615406,CR622464,CR624677,CR736901,EF011621 NP_004805,CAH71848,EAX07626,EAX07627,CAF85733,AAC69625,CAB75650,AAH01494,ABK41111,Q96DI7,Q9NSS8,ABM84553,ABM86368 Hs.33962 40K|FLJ41108|MGC1910|PRP8BP|PRPF8BP|RP11-490K7.3|SPF38 protein-coding 1605950 WDR59 WD repeat domain 59 15498874,15489334,14702039,12477932,11572484 79726 NM_030581,AC009132,AC092383,CH471114,AB067510,AF370390,AK022332,AK091316,AL832078,BC004519,BC014887,CA777098,CR595181,CR600875 NP_085058,EAW95672,EAW95673,EAW95674,EAW95675,EAW95676,BAB67816,AAQ15226,BAB14015,AAH04519,AAH14887,Q6PJI9 Hs.280951 FLJ12270|FP977|MGC11230 protein-coding 1318414 WDR5B WD repeat domain 5B This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. 1580863 15489334,14702039,12477932,10369878,8889548,7566098 54554 NM_019069,AC083798,CH471052,AA310178,AA587370,AK002149,BC025762,BC043494,BU678251,CR457279,CR592490 NP_061942,EAW79485,BAA92110,AAH43494,CAG33560,Q86VZ2 Hs.567513,Hs.594258 GDB:11508923 FLJ11287|MGC49879 protein-coding 1316962 WDR6 WD repeat domain 6 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is ubiquitously expressed in adult and fetal tissues. 17216128,16189514,15489334,14702039,12477932,11912194,11814058,10903905,9373149,8125298 11180 AL133589,AL833910,BC002826,BC078176,BC101707,BC113467,NM_018031,AC137630,AF099100,AK001080,AK022719,AK092079,AK225653 CAB63730,CAD38766,AAH02826,AAH78176,AAI01708,AAI13468,Q6AZD6,Q6PKC6,Q8NDH0,Q9H9M3,Q9NNW5,Q9NW86,NP_060501,AAF80244,BAA91497,BAB14201 Hs.654815 GDB:9957049 FLJ10218|MGC126756|MGC142027 protein-coding 1605671 WDR60 WD repeat domain 60 16344560,15489334,14702039,12690205,12477932,8889548 55112 AK001162,NM_018051,AC004863,AC124833,CH236954,CH471149,AK027228,AL137660,BC014491,BM718580,BU628311,CR627036,DB072968 NP_060521,EAL23932,EAX04592,BAA91528,AAH14491,CAH10360,Q6AI63,Q8WVS4 Hs.389945 FLJ10300|FLJ23575 protein-coding 1601957 WDR61 WD repeat domain 61 WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM] 16024656,15761153,15489334,14702039,12477932 80349 NM_025234,AC090607,CH471136,AF100786,AF127799,AF309553,AK024754,BC010080,CR457333,CR591993,CR592884,CR601697,CR601896,CR610234,CR613745,CR619418,CR625025 NP_079510,EAW99173,EAW99174,EAW99175,AAP97225,AAP97249,AAG31639,BAB14986,AAH10080,CAG33614,Q9GZS3 Hs.513055 REC14|SKI8 protein-coding 1315489 WDR62 WD repeat domain 62 17081983,16565220,16189514,15489334,15302935,15057824,14702039,12477932,8889548 284403 NM_001083961,NM_173636,AC004144,AD000813,AK090617,AL041673,AL117438,AL133651,AW029580,BC017261,BC058939,BC151839,BQ880028,BQ960310,BU508347,BX647726,CF142643,CR621762 NP_001077430,NP_775907,AAC27979,BAC03488,CAB55924,CAH56390,AAH17261,AAI51840,CAH56191,O43379,Q9UFV9 Hs.116244 C19orf14|DKFZP434J046|DKFZp686G1024|FLJ33298|MGC166976 protein-coding 1605003 WDR63 WD repeat domain 63 16710414,15489334,14702039,12477932 126820 NM_145172,AL358789,CH471097,AK054629,AK292603,AY049724,BC040265,BX648851 NP_660155,EAW73212,EAW73213,EAW73214,BAB70778,BAF85292,AAL06239,AAH40265,Q8IWG1 Hs.97933 FLJ30067|NYD-SP29|RP11-507C22.2 protein-coding 1605299 WDR64 WD repeat domain 64 14702039 128025 AL365366,BX248405,BX322532,CH471098,AK057540,AK122927,AY327404,NM_144625 NP_653226,CAI15650,CAI15652,CAI95314,CAH71837,CAH71839,CAI95104,EAW70101,EAW70102,BAB71525,AAP92796,Q4V334,Q5TZF4,Q5TZF5,AAI48603,AAI56933 Hs.97527 FLJ32978 protein-coding 1603569 WDR65 WD repeat domain 65 16710414,15489334,14743216,14702039,12477932 149465 NM_152498,AC093420,AL139138,CH471059,AK056562,BC117280,BC117306 NP_689711,EAX07118,BAB71217,AAI17281,AAI17307,Q96MR6 Hs.647644 FLJ32000|RP11-282K6.2 protein-coding 1606715 WDR66 WD repeat domain 66 14702039,12477932,8889548 144406 NM_144668,AC069503,CH471054,AA853421,AK097102,AL833930,BC028421,BC036233,BE870554,CA503090,CA944646,DB462471 NP_653269,EAW98298,EAW98299,BAC04951,CAD38786,AAH28421,AAH36233,Q8TBY9 Hs.709837 FLJ39783|MGC33630 protein-coding 1603593 WDR67 WD repeat domain 67 15489334,14702039,12477932 93594 AK025686,AK056434,AK092041,AK094612,BC026969,BC027237,BC101724,BC105800,BC111954,CR594827,CR596842,U43374,NM_145647,AC100873,CH471060 EAW92018,EAW92019,EAW92020,EAW92021,BAB71182,BAC04384,AAH26969,AAH27237,AAI01725,AAI05801,AAI11955,Q3KRB0,Q8N1Y0,Q8TAK7,Q96DN5,NP_663622 Hs.492716 Gm85|MGC104222|MGC126773|MGC138159|MGC21654 protein-coding 1604053 WDR68 WD repeat domain 68 14593110,9192870,16887337,16344560,15489334,14743216,14702039,12477932,8889548,16189514,15778465 10238 NM_005828,AC113554,CH471109,AA206721,AA634196,AI580937,AK022145,AK025925,AK026008,AK130672,AL832440,BC001264,BC024682,BC027489,BE889428,BF058090,BF507629,BG684075,BG819062,BM272287,BM559804,BM673647,BQ221019,BQ435051,BX648608,CB162675,CD245570,CR590100,CR591816,CR606772,CR613886,CR624812,DA230140,U94747 NP_005819,EAW94305,EAW94306,AAH01264,AAC18913,P61962,ABM82159,ABM85343 Hs.410596 AN11|HAN11 protein-coding 1602062 WDR69 WD repeat domain 69 16093345,15815621,15489334,14702039,12477932 164781 NM_178821,AC073065,CH471063,AK097409,AK098821,AK127882,BC036377 NP_849143,AAX93215,EAW70880,EAW70881,EAW70882,EAW70883,EAW70884,BAC05039,BAC05425,BAC87175,AAH36377,Q8N136 Hs.424594 FLJ25955 protein-coding 736419 WDR7 WD repeat domain 7 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. 15489334,14702039,12786944,12477932,10828621,9628581 23335 NM_015285,NM_052834,AC007052,AC008006,AC012301,CH471096,AB011113,AF188125,AK057141,AY099325,BC050352,BC131558,BC150282 NP_056100,NP_443066,EAW63037,EAW63038,EAW63039,EAW63040,BAA25467,AAL03983,AAM33134,AAH50352,AAI31559,AAI50283,Q9Y4E6 Hs.465213 GDB:11501650 KIAA0541|TRAG protein-coding 1605675 WDR70 WD repeat domain 70 14702039,12477932 55100 NM_018034,AC025469,AC093269,AC117532,CH471119,AK001095,AK291179,AL512685,BC009648,BC025315,BX537655,CR597628 NP_060504,EAW55960,EAW55961,BAA91502,BAF83868,CAC21644,AAH09648,AAH25315,Q9NW82 Hs.213690 FLJ10233 protein-coding 1602418 WDR72 WD repeat domain 72 15489334,14702039,12477932,8889548 256764 NM_182758,AC024061,AC066611,AC066614,CH471082,AK096055,AK123805,AK125130,BC058026,BC101614,BC101616,BX537884,BX648571,BX648751,CK299278 NP_877435,EAW77462,BAC04689,BAC86058,AAI01615,AAI01617,CAD97880,Q3MJ13,Q6ZV08 Hs.122125 FLJ38736|MGC126663|MGC126665 protein-coding 1602852 WDR73 WD repeat domain 73 14702039,12477932,9373149 84942 NM_032856,AC048382,CH471101,AF161382,AK027200,AK027794,AK055578,AK055729,AK090406,AK225068,AK225199,BC014115,BC020252,BC050648,BC063392,CR598576,CR609211 NP_116245,EAX01945,EAX01946,EAX01947,EAX01948,EAX01949,AAF28942,BAB55373,BAC03387,AAH14115,AAH50648,AAH63392,Q5RKY8,Q6P4I2,Q6PJL8,Q8NF73 Hs.165736 FLJ14888|HSPC264 protein-coding 1603395 WDR74 WD repeat domain 74 15489334,14742713,14702039,12477932,12429849,11790298 54663 NM_018093,AP001160,CH471076,AK001301,AK025383,AK292330,AY500828,BC006351,CR596173,CR596898,CR598633,CR609704,CR618779,CR622242,CR625671 NP_060563,EAW74111,EAW74112,BAA91610,BAB15122,BAF85019,AAS48499,AAH06351,Q6RFH5 Hs.654620 FLJ10439|FLJ21730 protein-coding 1604581 WDR75 WD repeat domain 75 17081983,16565220,15815621,15489334,14702039,12477932,12429849 84128 NM_032168,AC013439,CH471058,AK022581,AK022607,AK023276,AK091546,AK290445,AL122097,BC006816,BC018689,BC040567,CR619288,CR749440 NP_115544,AAX93081,EAX10903,EAX10904,EAX10905,BAB14111,BAB14126,BAB14503,BAF83134,CAB59265,AAH06816,AAH18689,AAH40567,CAH18278,Q05D27,Q8IWA0 Hs.399984 DKFZp781N1244|FLJ12519 protein-coding 1605336 WDR76 WD repeat domain 76 17041588,15489334,14702039,12860291,12499253,12477932 79968 AC023356,CH471082,AK023035,AK290933,BC025247,BC051855,CR595259,EF011624,AC018512,NM_024908 EAW77248,BAB14369,BAF83622,AAH25247,AAH51855,ABK41114,Q05CI4,Q9H967,NP_079184 Hs.250154 CDW14|FLJ12973 protein-coding 1604293 WDR77 WD repeat domain 77 WDR77 is a component of the 20S PRMT5 (MIM 604045)-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins (see MIM 601061). This modification targets Sm proteins to the survival of motor neurons (SMN) complex (see MIM 600354) for assembly into small nuclear ribonucleoprotein core particles (Friesen et al., 2002 [PubMed 11756452]).[supplied by OMIM] 15324660,15221005,14702039,12560496,12477932,11756452,9373149,9110174,8619474,8125298,15130578,18356297,17437848,17081983,17032745,16712789,16710414,15670829,15489334 79084 NM_024102,AL390195,CH471122,AB073603,AB074171,AF052183,AF478464,AK022860,AK223189,AY225316,BC001679,BC006477,BC009411,BC011778,BC016946,CR606134,CR607217,CR616007 NP_077007,CAC36041,CAI15627,EAW56493,EAW56494,BAD38641,BAE45736,AAL79917,BAD96909,AAP79114,AAH01679,AAH06477,AAH09411,AAH11778,AAH16946,Q5QNY9,Q9BQA1 Hs.204773 HKMT1069|MEP50|MGC2722|Nbla10071|RP11-552M11.3 protein-coding 1605635 WDR78 WD repeat domain 78 16710414,15489334,14702039,12477932 79819 AL592161,NM_024763,NM_207014,AL139216,AL354978,CH471059,AK026782,AK091603,AK127011,AK292830,AL133617,AL516734,BC032406,BC126379,BC126381,BX648840,CR620846 NP_079039,NP_996897,CAI18870,CAI18871,CAI18872,CAH71842,EAX06513,EAX06514,EAX06515,BAB15551,BAF85519,CAB63744,AAH32406,AAI26380,AAI26382,A0AVI9,Q5TAD8,Q5VTH9 Hs.49421 FLJ23129|RP11-342H21.1 protein-coding 1605665 WDR79 WD repeat domain 79 17683073,17081983,15489334,15302935,14702039,12477932,9373149,8125298 55135 AC087388,NM_018081,CH471108,AK001247,AK056669,AK092370,AK225273,AK225411,AY766322,AY766323,BC002336,CR603263,CR615409,CR616746,CR617478,CR622832,CR624035,DQ431240,DQ431241 NP_060551,EAW90136,EAW90137,EAW90138,EAW90139,BAA91579,AAW92115,AAW92116,AAH02336,ABD92817,ABD92818,Q08ET8,Q08ET9,Q9BUR4 Hs.437460 FLJ10385|WRAP53 protein-coding 1350775 WDR8 WD repeat domain 8 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This family member is 89% identical to the mouse Wdr8 protein at the amino acid level. The function of this protein is not known, and the mouse studies suggest that the Wdr8 protein may play a role in the process of ossification. 17353931,16710414,15489334,14702039,12477932,11401440,9373149,8125298 49856 NM_017818,AL136528,AL513320,CH471130,AB034912,AK000437,AK225525,BC002611,BC086311,CR596816,CR597189,CR599166,CR605005,CR613845,CR619231,CR626114 NP_060288,CAI19128,CAI19129,CAI19130,CAI19131,CAI14335,CAI14336,CAI14337,EAW71459,EAW71460,EAW71461,BAA92312,BAA91164,AAH02611,AAH86311,Q9P2S5 Hs.31714 GDB:10796231 FLJ20430|MGC99569 protein-coding 1606736 WDR81 WD repeat domain 81 15489334,14702039,12477932 124997 NM_152348,AC130343,CH471108,AK074111,AK074356,AK091136,AK122972,AK123896,AK127946,AL834379,BC092513,BC114519,BC114568,CR621271 NP_689561,EAW90582,EAW90583,EAW90584,BAB84937,BAC03593,CAD39042,AAH92513,AAI14520,AAI14569,Q24JR4,Q562E7,Q8TEL1 Hs.234572 FLJ23776|FLJ33817 protein-coding 1604285 WDR82 WD repeat domain 82 TMEM113 is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM] 17998332,17355966,17041588,16253997,14702039,12975309,12477932 80335 NM_025222,AC092045,CH471055,AF132207,AF173977,AI478905,AK074290,AK098435,AK123860,AK130177,AK291380,AY358264,BC011760,BC018941,BX648628,CR604741,CR612750,CR616060,DB500464 NP_079498,EAW65202,EAW65203,AAG35553,AAQ13620,BAB85039,BAF84069,AAQ88631,AAH11760,AAH18941,Q6UXN9,Q9H350 Hs.194110 MST107|MSTP107|PRO2730|PRO34047|SWD2|TMEM113|WDR82A protein-coding 1626141 WDR82P1 WD repeat domain 82 pseudogene 1 11181995 728505 NG_006256,AC140059,CH471052 EAW79892 SW2|SWD2|WDR82|WDR82B|hCG26824 pseudo 1626190 WDR82P2 WD repeat domain 82 pseudogene 2 441891 XR_017660,XR_018599,NG_006032,AL355871 Hs.647661 WDR82C pseudo 1312556 WDR85 WD repeat domain 85 737633 15489334,15164053,14702039,12477932 737633 92715 NM_138778,AL365502,CH471090,CQ783158,AJ420445,AK075115,BC003123,BC016349,BC017335,BC040173,CR593031,CR593908,CR597738,CR621191 NP_620133,CAI14584,EAW88400,EAW88401,CAF86364,BAC11411,AAH03123,AAH17335,AAH40173,Q9BTV6 Hs.292570 C9orf112|FLJ90634|RP11-48C7.3 chromosome 9 open reading frame 112 protein-coding 1604947 WDR86 WD repeat domain 86 16344560,12477932 349136 NM_198285,AACC02000108,AC005486,AC005996,CH471173,AK125347,BC047921,BC107125,BI757623,BX338490,BX390499,CR608177,DA267732 NP_938026,EAL24513,EAW53995,EAW53996,EAW53997,EAW53998,BAC86140,AAH47921,AAI07126,Q86TI4 Hs.702558 MGC129839 protein-coding 1602453 WDR87 WD repeat domain 87 83889 XM_371164,XM_001717392,XM_940478,AC016582,AK128826,AY026504 XP_371164,XP_001717444,XP_945571,BAC87627,AAK20167,Q6ZQQ6 Hs.664194 NYD-SP11 protein-coding 1606735 WDR88 WD repeat domain 88 12477932 126248 NM_173479,AC008738,AI982942,AK131444,BC031227 NP_775750,BAD18589,AAH31227,Q6ZMY6,AAI48667 Hs.211046 PQWD protein-coding 1316567 WDR89 WD repeat domain 89 15635413,15489334,14702039,12477932 112840 NM_080666,NM_001008726,AL136038,CH471061,AF115513,AK095324,BC010698,BI603622,BX248008,CR590052,CR620350 NP_542397,NP_001008726,EAW80831,EAW80832,AAO06950,BAC04530,AAH10698,CAD62336,Q96FK6 Hs.655666 C14orf150|MGC9907|MSTP050 protein-coding 1604213 WDR90 WD repeat domain 90 14702039,12477932,11572484,11157797 197335 NM_145294,AE006464,AL022341,AB067511,AK091062,AK092719,AK093609,AK093802,AK126622,AK131510,BC062304,BC065836,BC121185,BC121186 NP_660337,AAK61239,CAC79469,BAB67817,BAC03575,BAC04205,BAC04225,BAC86616,BAD18654,AAH65836,AAI21186,AAI21187,Q0VA87,Q0VA88,Q6ZMS1,Q6ZTH1,Q8N202,Q8N221,Q8NBB8,Q96KV7,Q96PW4,Q96S18 Hs.511903 C16orf15|C16orf16|C16orf17|FLJ36483|FLJ44660|KIAA1924 protein-coding 1606020 WDR91 WD repeat domain 91 11230166,11076863,11042152,16381901,15489336,14702039,12477932 29062 NM_014149,AC009542,AC083862,CH236950,CH471070,AF161534,AK001606,AK022935,AK074466,AL136940,BC009939,BC017246,BC063394,BX640957,CR533561 NP_054868,EAL24062,EAW83842,EAW83843,EAW83844,EAW83845,AAF29021,BAA91785,BAB14316,CAB66874,AAH09939,AAH17246,AAH63394,CAE45977,CAG38592,A4D1P6,Q0JTS5,CAL38087 Hs.459858 HSPC049 protein-coding 1605887 WDR92 WD repeat domain 92 The WD40 repeat domain is a common structural module in eukaryotes, and proteins containing WD40 domains have a diverse range of functions, including signal transduction, cell cycle regulation, RNA splicing, and transcription (Saeki et al., 2006 [PubMed 16487927]).[supplied by OMIM] 16487927,14702039,12477932 116143 NM_138458,AC017083,CH471053,AK056303,AK058090,AK090527,AL834142,AY541587,BC014022,BC020271,BC036904,BC066657 NP_612467,AAY14713,EAW99880,EAW99881,EAW99882,EAW99883,BAB71143,BAB71660,CAD38855,AAS48106,AAH14022,AAH66657,Q6QHF3,Q86YQ0,Q8ND98,Q96CR6,Q96LM8,Q96MX6 Hs.631877 FLJ31741 protein-coding 1604328 WDR93 WD repeat domain 93 14702039,12477932 56964 NM_020212,AC013787,AC079075,CH471101,AK097525,AL390084,AL390085,BC051026,BC064626 NP_064597,EAX02063,EAX02064,EAX02065,BAC05088,CAB98208,CAB98209,AAH64626,Q6P2C0 Hs.177557 protein-coding 1604028 WDSOF1 WD repeats and SOF1 domain containing 14702039,12477932,11790298,11042152 25879 NM_015420,AC012213,CH471060,AF161549,AK001693,AK001874,AK027799,AK074725,AL117609,BC026067,BC035190,BC101810,BC107790,BC112042,CR608127,CR620911,CR622604 NP_056235,EAW91879,EAW91880,EAW91881,EAW91882,EAW91883,AAF29036,BAA91955,BAB55377,BAC11163,AAH26067,AAI01811,AAI12043,Q9NV06 Hs.532265 DKFZP564O0463|Gm83|HSPC064|MGC126859|MGC138247 protein-coding 1346298 WDSUB1 WD repeat, sterile alpha motif and U-box domain containing 1 737633,1580863 15815621,15489334,14702039,12477932 737633 151525 NM_152528,AC008277,AC009307,CH471058,AK093494,AK129983,BC029520,CR607851,CR619104 NP_689741,AAX93043,EAX11408,EAX11409,EAX11410,EAX11411,EAX11412,EAX11413,EAX11414,EAX11415,EAX11416,BAC04184,AAH29520,Q8N9V3 Hs.20848 FLJ36175|UBOX6|WDSAM1|wdsam1 wd repeat and sam domain containing 1 protein-coding 1321224 WDTC1 WD and tetratricopeptide repeats 1 737633 15489334,14702039,12717455,12477932,12421765,10470851,16189514 737633 23038 AL663123,CH471059,AB028960,AK001734,AK023101,AK023778,BC032523,NM_015023,AL590640 CAH73549,CAI14787,EAX07769,EAX07770,EAX07771,EAX07772,BAA82989,BAA91868,BAB14675,AAH32523,Q5SSD7,Q5VU05,Q5VU06,Q8N5D0,Q9H8E2,NP_055838 Hs.469154 ADP|KIAA1037|RP11-4K3__A.1 protein-coding 1317355 WEE1 WEE1 homolog (S. pombe) This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. 1580863 15070733,1384126,1396589,8348613,17764157,17687495,17431037,17192257,17081983,16533053,15964826,15837193,15761153,15735666,15583029,15324660,15302935,15253423,15175024,15150265,14760118,14702039,14534529,12679038,12669309,12601350,12525641,12477932,12214061,12186947,11839808,11691994,11531413,11528126,10775038,10564259,9618490,9268380,8432534,8428596,8084605,7774574,7743995,7673359,1840647,16429131,16354571,15254189,15817944,15780175,15725353,15265780,15142377,15778465,15735702 7465 NM_003390,AB019580,AB019581,AC011979,AC122179,AJ277546,CH471064,AK122837,BC051831,BC070052,BX641032,U10564,X62048 NP_003381,CAC14173,EAW68586,EAW68587,EAW68588,AAH51831,AAH70052,CAE46020,AAB60401,CAA43979,P30291,Q6MZL0,Q6NSL2,Q86V29 Hs.249441 GDB:133793 DKFZp686I18166|FLJ16446|WEE1A|WEE1hu protein-coding 1352233 WEE2 WEE1 homolog 2 (S. pombe) 16341674,14702039,11181995,11029659 494551 AC004918,NM_001105558,CH236950,CH471070,AK131218,BG402079,BM790836 NP_001099028,EAW83977,P0C1S8 Hs.657927 FLJ16107|WEE1B protein-coding 68974 WFDC1 WAP four-disulfide core domain 1 This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. The encoded protein shares 81% amino acid identity with the rat ps20 protein, which was originally identified as a secreted growth inhibitor. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. Owing to its location and a possible growth inhibitory property of its gene product, this gene is suggested to be a tumor suppressor gene. 1580863,2291859,2291860 12477932,12032731,10967136,17942534,16303743,15489334,15305342,14702039,14522910 2291859,2291860 58189 NM_021197,AC010551,CH471114,AF169631,AF302109,AK075061,AL713785,BC029159,CR595501,CR604862,CR608359,CR610530,CR615719 NP_067020,EAW95486,EAW95487,AAG16647,AAG15263,BAC11377,AAH29159,Q9HC57,ABM84291,ABM87681 Hs.36688 GDB:11501647 PS20 protein-coding 1315782 WFDC10A WAP four-disulfide core domain 10A This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. 1580863 15950183,12206714,11780052 140832 NM_080753,AL031671,CH471077,AY038182,BC131579,CR598861 NP_542791,CAI22433,EAW75827,AAK72469,AAI31580,Q9H1F0 Hs.199380 C20orf146|WAP10|dJ688G8.3 protein-coding 1343114 WFDC10B WAP four-disulfide core domain 10B This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. 15950183,15489334,12477932,12206714,11780052 280664 NM_172131,NM_172006,AL031671,AL109656,CH471077,AF454506,AF454507,BC121071,BC121072 NP_742143,NP_742003,CAI22436,EAW75822,EAW75823,AAN70989,AAN70990,AAI21072,AAI21073,Q0VAG1,Q8IUB3 Hs.237392 WAP12 protein-coding 1351256 WFDC11 WAP four-disulfide core domain 11 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. 15950183,15489334,12477932,12206714,11780052 259239 AY047609,BC062670,NM_147197,AL031671,CH471077 EAW75824,EAW75825,AAK97771,AAH62670,Q8NEX6,NP_671730,CAI22435 Hs.374924 MGC71905|WAP11 protein-coding 1349049 WFDC12 WAP four-disulfide core domain 12 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. 1580863 11779191,15950183,12975309,12206714,11780052 128488 NM_080869,CH471077,Z93016,AY037803,AY358678 NP_543145,EAW75875,EAW75876,CAI19817,AAK68848,AAQ89041,Q8WWY7,AAI40218,AAI46515 Hs.352180 C20orf122|SWAM2|WAP2|dJ211D12.4 protein-coding 1352525 WFDC13 WAP four-disulfide core domain 13 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. 15950183,12477932,12206714,11780052 164237 NM_172005,AL109656,CH471077,AF454505,BC104423 NP_742002,CAI21959,EAW75820,EAW75821,AAN70988,Q8IUB5 Hs.406733,Hs.690734 C20orf138|WAP13|dJ601O1.3 protein-coding 1344525 WFDC2 WAP four-disulfide core domain 2 This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. 1580863 1686187,17448597,16740002,16600032,15950183,15781627,15489334,12839961,12477932,12206714,11965550,11780052,10570965,9685187,9373149,8125298,1693137 10406 BI759775,CR456977,X63187,AL031663,CH471077,AF330259,AF330260,AF330261,AF330262,AK225528,AK290288,AY212888,BC039816,BC046106,NM_006103 AAH46106,CAG33258,CAA44869,Q14508,NP_006094,CAB37641,EAW75836,EAW75837,EAW75838,EAW75839,EAW75840,AAL37485,AAL37486,AAL37487,AAL37488,BAF82977,AAO52683 Hs.2719 GDB:9956898 HE4|MGC57529|WAP5|dJ461P17.6 protein-coding 1313240 WFDC3 WAP four-disulfide core domain 3 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. 1580863 15950183,15489334,12477932,12206714,11780052,10680116 140686 NM_080614,AL050348,CH471077,AF488306,AL591713,BC026014,BC102013,BC102014,BX091378 NP_542181,CAC36106,EAW75813,EAW75814,EAW75815,EAW75816,EAW75817,AAN70993,CAC39444,AAH26014,AAI02014,AAI02015,Q5QPF1,Q8IUB2,AAI46427,AAI48861 Hs.419126 GDB:11508156 WAP14|dJ447F3.3 protein-coding 1312741 WFDC5 WAP four-disulfide core domain 5 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. 1580863 17511965,16462094,15489334,12975309,12477932,12206714,11780052,10680116,10441517 149708 NM_145652,CH471077,Z93016,AY038181,AY358822,BC039173 NP_663627,EAW75877,EAW75878,CAD27771,CAI19816,AAK72468,AAQ89181,AAH39173,Q8TCV5 Hs.375031 PRG5|WAP1|dJ211D12.5 protein-coding 1352143 WFDC6 WAP four-disulfide core domain 6 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. 1580863 15950183,12477932,12206714,11780052 140870 NM_080827,AL031663,CH471077,AF411861,BC101600,BC101604 NP_543017,CAI21404,CAI21405,EAW75833,EAW75834,EAW75835,AAN03684,AAI01601,AAI01605,Q5JYQ5,Q9BQY6 Hs.673237 C20orf171|MGC126649|MGC126653|WAP6|dJ461P17.11 protein-coding 1347537 WFDC8 WAP four-disulfide core domain 8 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. 1580863 15950183,12206714,11780052 90199 NM_181510,NM_130896,AL031663,AL121778,AL133571,CH471077,AF492015,AF492016,AL591715 NP_852611,NP_570966,CAI21403,CAI22977,EAW75828,EAW75829,AAN70997,AAN70998,CAC39449,Q8IUA0 Hs.116128 C20orf170|WAP8|dJ461P17.1 protein-coding 1350341 WFDC9 WAP four-disulfide core domain 9 The WAP-type four-disulfide core (WFDC) domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. 15950183,15489334,12477932,12206714,11780052 259240 CH471077,AY047610,BC069295,BC101652,BC101656,NM_147198,AL031671 EAW75826,AAK97772,AAH69295,AAI01653,NP_671731,CAI22432,AAI01657,Q8NEX5 Hs.249828 MGC126701|MGC126705|WAP9|dJ688G8.2 protein-coding 1342711 WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. 1580863 16791741,15146197,12709070,12477932,11928817,11274388,11157797 117166 NM_053284,AE006464,CH471112,Z84479,AF422194,AK075356,AK128777,BC101602,BC101606,CN425794 NP_444514,AAK61237,EAW85790,AAL18839,BAC11566,AAI01603,AAI01607,Q96NZ8 Hs.345818 MGC126651|MGC126655|RJD2|WFIKKN protein-coding 1346693 WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. 16344560,12975309,12709070,12595574,11928817,11329013 124857 NM_175575,AC091062,CH471109,AF468657,AK127743,AK131196,AL537450,AY358142,BG221308,BQ954191,DB235333 NP_783165,EAW94579,EAW94580,AAL77058,BAD18391,AAQ88509,Q6ZNI4,Q8TEU8 Hs.211475 WFIKKNRP protein-coding 731649 WFS1 Wolfram syndrome 1 (wolframin) This gene encodes a transmembrane protein. Mutations in this gene are associated with an autosomal recessive syndrome characterized by insulin-dependent diabetes mellitus and bilateral progressive optic atrophy, usually presenting in childhood or early adult life. Diverse neurologic symptoms, including a predisposition to psychiatric illness, may also be associated with this disorder. A large number and variety of mutations in this gene, particularly in exon 8, can be associated with this syndrome. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. 1599813,1580863 9771706,18426861,18197395,18060660,18040659,17947299,17719176,17603484,17568405,17517145,17492394,16989814,16965966,16876316,16806192,16550584,16195229,16043233,16005363,15912360,15852062,15605410,15489334,15473915,15277431,15234338,14968315,14527944,12955714,12913071,12782971,12754709,12707947,12650912,12605098,12477932,12107816,12073007,11920861,11916957,11709538,11709537,11295831,11181571,11181517,11161832,10760554,10679252,10624825,10521293,10424813,9817917,8595423,7987399,11317350 1599813 7466 NM_006005,AC116317,CH471131,AF084481,BC030130,BC069213,CR609097,Y18064 NP_005996,EAW82396,EAW82397,EAW82398,AAC64943,AAH30130,CAA77022,O76024,ABW03561 Hs.518602 GDB:434294 DFNA14|DFNA38|DFNA6|DIDMOAD|WFRS|WFS|WOLFRAMIN protein-coding 1353350 WFS2 Wolfram syndrome 2 10739754 54117 GDB:10796896 1346353 WHCR Wolf-Hirschhorn syndrome chromosome region 7467 GDB:125355 1606472 WHDC1 WAS protein homology region 2 domain containing 1 14702039,11853319 123720 NM_001080435,AC044907,CH471188,AB075851,AK097947,AK126887 NP_001073904,EAW62438,BAB85557,BAC05201,Q8TF30 Hs.377360 KIAA1971 protein-coding 1604174 WHDC1L1 WAS protein homology region 2 domain containing 1-like 1 14702039,12477932 339005 NR_003521,XR_042166,AC138649,AL833132,BC018097,BC044610,BC048987,BC093703,BC093705,DQ309039,DQ309040 AAH18097,AAH44610,AAH93703,AAH93705,ABD73923,ABD73924 Hs.212670,Hs.655308 pseudo 1602145 WHDC1L2 WAS protein homology region 2 domain containing 1-like 2 14702039,12477932 440253 XM_926785,AC055876,AK091254,BC035099,BC066982,BC150524 XP_931878 Hs.655308 FLJ33935 protein-coding 1317450 WHSC1 Wolf-Hirschhorn syndrome candidate 1 This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. 1580863 17942756,17719568,17239852,17081983,16682010,16197452,16115125,15734578,15677557,15489334,15257719,12715353,12477932,12433679,11337357,11252005,11152655,10945609,10470851,9787135,9354676,9207791,9063753,8889548,9618163,18182627,18172012,18156491,18036184 7468 NM_001042424,NM_133330,NM_133331,NM_133335,NM_007331,NM_133334,AC105448,AF178206,AF178219,AL132868,CH471131,AB029013,AF071593,AF071594,AF083386,AF083387,AF083388,AF083389,AF083390,AF083391,AF330040,AI339675,AI695058,AJ007042,AK026939,AK289697,AY694128,BC020545,BC032731,BC052254,BC070176,BC094825,BC110899,BC141815,BC152412,BM982021,CX866583,DQ185035 NP_001035889,NP_579877,NP_579878,NP_579890,NP_015627,NP_579889,AAF23369,AAF23370,EAW82548,EAW82549,EAW82550,EAW82551,EAW82552,EAW82553,EAW82554,EAW82555,EAW82556,EAW82557,EAW82558,BAA83042,AAC24150,AAC24151,AAD19343,AAD21770,AAD21771,AAD19344,AAD19345,AAD19346,AAK00344,CAB45386,BAF82386,AAU09264,AAH20545,AAH52254,AAH70176,AAH94825,AAI41816,AAI52413,O96028,Q05CW4,AAI66668 Hs.113876 GDB:9848888 FLJ23286|KIAA1090|MGC176638|MMSET|NSD2|REIIBP|TRX5|WHS protein-coding 1319069 WHSC1L1 Wolf-Hirschhorn syndrome candidate 1-like 1 This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. The function of the protein has not been determined. Two alternatively spliced variants have been described. 1599847 16682010,15983384,15489334,14702039,12477932,11986249,11549311,11374904,10802047 1599847 54904 NM_023034,NM_017778,AK022560,AK127594,AL832895,BC000030,BC007787,BC012059,BC062631,BC073858,BC101717,BC107734,BC113469,BC115006,BC115007,CR596467,AC087362,AC087623,CH471080,AF255649,AF318339,AF332468,AF332469,AJ295990,AJ295991,AJ295992,AK000360 NP_075447,BAB14099,BAC87049,AAH12059,AAH62631,AAI01718,AAI07735,AAI13470,AAI15007,Q8WYV9,Q9BZ95,NP_060248,EAW63319,EAW63320,EAW63321,EAW63322,AAG44637,AAL55846,AAK00354,AAK00355,CAC28350,CAC28351,CAC28352,BAA91110 Hs.700599 GDB:10796466 DKFZp667H044|FLJ20353|MGC126766|MGC142029|NSD3|pp14328 protein-coding 1346591 WHSC1L2P Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene 83645 GDB:11501758 1313651 WHSC2 Wolf-Hirschhorn syndrome candidate 2 This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. 1580863 10409432,12676794,17081983,16964243,15489334,15302935,14702039,12715353,12612062,12563561,12477932,11940650,11387440,11280764,11150502,11112772,10199401,9373149,9110174,9063753,8619474,8125298,16838299 7469 NM_005663,AL132868,CH471131,AB044549,AF101434,AF131751,AK001304,AK094040,AK095737,AK126056,AK222853,BC002764,CR599442 NP_005654,EAW82545,EAW82546,EAW82547,BAB18651,AAC72982,AAD20034,BAD96573,AAH02764,Q53GS8,Q9H3P2 Hs.21771 GDB:9863287 FLJ10442|FLJ25112|NELF-A|NELFA|P/OKcl.15 protein-coding 1601845 WIBG within bgcn homolog (Drosophila) 18026120,14702039,12483225,12477932,12438415 84305 NM_032345,AC023055,AC025162,CH471054,AJ459406,AK096922,BC006135,BC008292,BC009627,BC014976,CR606391,CR613330 NP_115721,EAW96847,EAW96848,CAD30677,BAC04897,AAH06135,AAH09627,AAH14976,Q96DC3,Q9BRP8 Hs.505687,Hs.711082 MGC13064|PYM protein-coding 731989 WIF1 WNT inhibitory factor 1 WNT proteins are extracellular signaling molecules involved in the control of embryonic development. This gene encodes a secreted protein, which binds WNT proteins and inhibits their activities. This protein contains a WNT inhibitory factor (WIF) domain and 5 epidermal growth factor (EGF)-like domains. It may be involved in mesoderm segmentation. This protein is found to be present in fish, amphibia and mammals. 1580863,2291868,727214,2291870,1643593,2291869,2293188,2291871 10201374,18079202,18005197,17384664,17171686,17094650,17012225,16609023,16525492,16516163,16476441,16428476,16427602,16007117,15735743,15489334,15389810,15377999,15351726,12975309,12477932 2291868,727214,2291870,1643593,2291869,2293188,2291871 11197 NM_007191,AC026124,AC135895,CH471054,AF122922,AL711431,AY358344,BC018037,BX647427 NP_009122,EAW97146,EAW97147,AAD25402,AAQ88710,AAH18037,Q9Y5W5,ABM83320,ABM86535 Hs.284122 GDB:11504609 WIF-1 protein-coding 736993 WIPF1 WAS/WASL interacting protein family, member 1 This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. 1580863 16344560,9405671,18258743,17949983,17890224,17711847,17213309,16606694,15489334,15469902,14702039,12591280,12504004,12477932,12437929,12372256,12147689,12029088,11869681,11687573,10878810,10358064,10202051,10087612,9694849,12620186,16189514,16488394 7456 NM_001077269,NM_003387,AC010894,AC104595,CH471058,AA599214,AA903457,AF031588,AF106062,AK097901,AL529597,AL832275,BC002914,BC045584,BC110288,BG820214,BM475558,BM542331,BQ016063,BQ441937,BX640870,CR607172,CR618785,CR621647,CR622538,DA674627,X86019 NP_001070737,NP_003378,AAY14708,EAX11129,EAX11130,EAX11131,EAX11132,EAX11133,EAX11134,EAX11135,AAC03767,AAD45972,AAH02914,AAI10289,CAA60014,O43516,Q2YDC4,Q53TA9,CAE45928 Hs.654521 GDB:9834930 MGC111041|PRPL-2|WASPIP|WIP wiskott-aldrich syndrome protein interacting protein protein-coding 1603178 WIPF2 WAS/WASL interacting protein family, member 2 This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. 16344560,15498874,15489334,15146197,14702039,14506234,12477932,12213210,11829459,8889548,8619474 147179 AC068669,AC080112,CH471152,AB043786,AF370396,AJ431177,AK026913,AK055025,AK055057,AK289578,AK289779,AK290301,AK315836,AL834239,NM_133264,AU138315,BC019706,BC025965,BC030561,BC043408,BC047435,BC064504,BC065551,CB240594,CN404607,CR607942,U90911 NP_573571,EAW60648,EAW60649,BAB85113,AAQ15232,CAD24007,BAF82267,BAF82468,BAF82990,BAF98727,CAH56360,AAH65551,Q8TF74 Hs.421622,Hs.705989 WICH|WIRE protein-coding 1605143 WIPF3 WAS/WASL interacting protein family, member 3 17573773,14702039,14506234 644150 NM_001080529,AC004912,AK094250 NP_001073998,AAI56552 Hs.380698 CR16|FLJ36931 protein-coding 1605986 WIPI1 WD repeat domain, phosphoinositide interacting 1 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI1, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM] 15602573,17618624,15489334,15020712,14702039,12477932 55062 NM_017983,AC007780,CH471099,AK000917,AY691424,BC039867,CR597380,CR603211,CR613131,CR626829,DC380076 NP_060453,EAW89057,EAW89058,EAW89059,BAA91423,AAV80760,AAH39867,Q5MNZ9 Hs.463964 ATG18|FLJ10055|WIPI49 protein-coding 1606810 WIPI2 WD repeat domain, phosphoinositide interacting 2 WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM] 11256614,16381901,15602573,15489336,15489334,14702039,12853948,12477932,11230166,11076863,10810093,9847074 26100 AF151808,AK023041,AK024279,AK124974,AK125007,AL080155,AY691425,AY691426,BC004116,BC007596,BC016912,BC021012,BC021068,BC021200,BI561383,BX537624,CR533530,CR590803,CR592717,CR597358,CR615883,CR621388,CR623484,CR624233,NM_015610,NM_001033518,NM_016003,NM_001033519,NM_001033520,AC093376,CH471144 EAW87327,EAW87328,AAD34045,BAC86012,CAB45746,AAV80761,AAV80762,AAH04116,AAH07596,AAH16912,AAH21200,CAH56163,CAG38561,Q05DB1,Q0JSL0,Q0JSM0,Q0JUN2,Q63Z38,Q6ZV51,Q9Y4P8,NP_056425,NP_001028690,NP_057087,NP_001028691,NP_001028692,AAQ96865,AAQ96866,AAQ96867,EAW87324,EAW87325,EAW87326,CAL37779,CAL38494,CAL38504 Hs.122363 Atg21|CGI-50|DKFZP434J154|DKFZp686P02188|FLJ12979|FLJ14217|FLJ42984|WIPI-2 protein-coding 69487 WISP1 WNT1 inducible signaling pathway protein 1 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Alternative splicing of this gene generates 2 transcript variants. 1580863 17353931,9843955,18006828,17657846,17593496,17406949,17381509,16421571,15650268,15489334,12805222,12717393,12529380,12477932,11855747,11782444,11751417,11598131,11571650,10716946 8840 NM_003882,NM_080838,AF192304,AF223404,CH471060,AB034725,AF100779,AK293031,AK315822,AW291472,AY196486,AY196487,AY196488,BC074840,BC074841,EF025923 NP_003873,NP_543028,AAF35350,EAW92162,EAW92163,BAB17849,AAC96321,BAF85720,BAF98713,AAP43924,AAP43925,AAP43926,AAH74840,AAH74841,ABK13678,O95388,Q5JBS6,Q5JBS7,Q5JBS8 Hs.492974 GDB:9957370 CCN4|WISP1c|WISP1i|WISP1tc protein-coding 1351496 WISP2 WNT1 inducible signaling pathway protein 2 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. 1580863 9843955,18070926,17406949,17383817,16939222,16525711,16038875,15798095,15489334,15340161,14981145,14767469,12975309,12659671,12477932,12056810,11855747,11780052,10358067 8839 NM_003881,AL139352,CH471077,AF074604,AF083500,AF100780,AK129660,AY358915,BC017782,BC058074,BC064379,CR603485 NP_003872,CAB94788,CAH73886,EAW75902,EAW75903,AAC26794,AAC70350,AAC96322,BAC85210,AAQ89274,AAH17782,AAH58074,AAH64379,O76076,Q6PEG3,Q6ZPA9 Hs.592145 GDB:9957364 CCN5|CT58|CTGF-L protein-coding 1345324 WISP3 WNT1 inducible signaling pathway protein 3 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. 1599850,1580863 9843955,18321996,17483925,17406949,17363178,17286957,16480948,16457688,15650268,15601861,15517620,15300987,14574404,12975309,12477932,12105881,12082632,10471507,7687569 1599850 8838 NM_003880,NM_198239,NM_130396,AL512299,CH471051,Z99289,AB075040,AF100781,AF143679,AY358349,AY358350,BC012028,BC035250,BC102031,BC105940,BC105941 NP_003871,NP_937882,NP_569080,EAW48273,EAW48274,EAW48275,EAW48276,EAW48277,CAB16556,CAI42331,BAB78569,AAC96323,AAD31517,AAQ88715,AAQ88716,AAH12028,AAI02032,AAI05941,AAI05942,O95389,O95958,Q05DJ5,Q3KR29,Q3KR30,Q3T1A9,Q5H8W4,Q5T0Y6,Q8WYK7 Hs.558428 GDB:9957361 CCN6|LIBC|MGC125987|MGC125988|MGC125989|PPAC|PPD protein-coding 1605386 WIT1 Wilms tumor upstream neighbor 1 This intronless gene is located upstream of the Wilms tumor 1 (WT1) gene; these two genes are bi-directionally transcribed from the same promoter region. The WT1 gene is a tumor suppressor gene that has been implicated in Wilms tumor, and it is expressed in cells of mesodermal origin. This gene and the WT1 gene have the same temporal and cell-restricted expression pattern, although the expression of this gene is less abundant than WT1 expression. WT1 is involved in the development of the urogenital system, whereas the role of this gene in embryogenesis is unclear. It has been found that methylation of this gene is implicated in chemoresistant acute myeloid leukemia. 2173145,16554811,15687485,15489334,12477932,10340388,8406502,8208551 51352 NM_015855,AL049692,CH471064,X69950,BC002734,BC096708,BC098290,BC100673,BX110205,L25110,M60614 NP_056939,CAC39219,EAW68219,CAA49572,AAH02734,AAH96708,AAH98290,AAI00674,AAA63269,Q06250,Q0P6J6,Q4KMY0 Hs.567499 MGC120207|MGC120208|MGC120209|WIT-1|dJ74J1.1 protein-coding 1607009 WIZ widely interspaced zinc finger motifs 16702210,14702039,12477932,12226707,9795207,9790763 58525 AC006128,AC007059,AC011492,CH471106,AK027615,AK091183,AK122890,AK131404,AL390184,BC002329,BC007551,BC014220,BC048293,BC062360,NM_021241,BC098445 NP_067064,AAC97985,AAD19817,AAD19818,EAW84480,BAB55234,BAD18551,CAB99102,AAH02329,AAH07551,AAH62360,AAH98445,O95785 Hs.442138 ZNF803 protein-coding 1343607 WMS Weill-Marchesani syndrome 8914744 GDB:5583902 1343905 WNK1 WNK lysine deficient protein kinase 1 The WNK1 gene encodes a cytoplasmic serine-threonine kinase expressed in distal nephron.[supplied by OMIM] 1580828,1580829 10660600,15350218,17957199,17456004,17392271,17380208,17190791,17081983,16964243,16949040,16832045,16820787,16669787,16428287,16403833,16301342,16263722,16204408,16172412,15883153,15686619,15583131,15489334,15324660,15203218,14681216,14645531,14611643,12477932,12374799,12168954,11571656,11498583,10869238,9205841,8889548,2507249,12748276 1580828,1580829 65125 NM_018979,AC004765,AC004803,CH471116,AB002342,AF061944,AJ296290,AY231477,BC013629,BC021121,BC035146,BC044600,BC071959,BC094862,BC141881,BM716053,CD629562 NP_061852,EAW88951,EAW88952,EAW88953,EAW88954,EAW88955,EAW88956,EAW88957,EAW88958,BAA20802,AAF31483,CAC15059,AAO46160,AAH13629,AAH21121,AAH94862,AAI41882,Q4VBX9,Q96CZ6,Q9H4A3 Hs.356604 GDB:9785644 KDP|KIAA0344|PHA2C|PRKWNK1|PSK protein-coding 1349205 WNK2 WNK lysine deficient protein kinase 2 The protein encoded by this gene is a cytoplasmic serine-threonine kinase that contains cysteine in place of the lysine found at the conserved ATP-binding location in subdomain II of protein kinases. Since this protein does have kinase activity, it is possible that another lysine in the kinase subdomain I can substitute for the missing conserved lysine. 17667937,17578925,16713569,15489334,14702039,12477932,11571656,11498583,11280764,11214970,9610721 65268 AB044546,AB051547,AF039702,AJ242724,AK000694,AK093910,AK096968,AK124314,BC037965,NM_006648,AL354991,AL390760,AL583839,CH471089 BAB18648,BAB21851,AAC18051,CAB44308,BAC85831,AAH37965,O60536,Q5VWF1,Q5VWF2,Q6ZVN0,Q9Y3S1,EAW62860,NP_006639,CAI14449,CAI14450,CAO03638,CAO03639,CAO03640,CAH73069,CAH73070,CAO03646,CAO03647,CAO03648,CAI12344,CAI12345,CAO03350,CAO03351,EAW62857,EAW62858,EAW62859 Hs.654856 GDB:11507528 KIAA1760|NY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43 protein-coding 1346670 WNK3 WNK lysine deficient protein kinase 3 Members of the 'with no lysine' (WNK) kinase family, such as WNK3, are serine-threonine protein kinases that lack the almost invariant catalytic lysine in subdomain II, which is important for binding ATP in the catalytic site. Instead, these kinases have a conserved lysine in subdomain I that is thought to provide this function (Holden et al., 2004 [PubMed 15194194]).[supplied by OMIM] 16501604,17975670,15772651,15194194,11571656,11498583,10997877 65267 NM_020922,NM_001002838,AL049793,AL591766,CH471154,Z84469,AB046786,AJ409088,AY082340,AY352048 NP_065973,NP_001002838,CAI43128,CAI43129,EAW93175,EAW93176,BAB13392,CAC32455,AAL99253,AAR89465,Q5JRC0,Q5JRC2,Q9BYP7,AAI56470 Hs.92423 GDB:11507530 KIAA1566|PRKWNK3 protein-coding 1353270 WNK4 WNK lysine deficient protein kinase 4 The WNK4 gene encodes a serine-threonine kinase expressed in distal nephron.[supplied by OMIM] 1580828,1580830,629611 11571656,11498583,8889548,14563843,17634397,17360471,17018846,16820787,16688122,16403833,15292344,15110905,15070779,14769928,14702039,12719438,12515852 1580828,1580830,629611 65266 AF390018,AJ309861,AJ316534,AK096003,AK096052,BM683764,NM_032387,AC016889,AC100793,CH471152,EU332870 AAK91995,CAC32991,CAC48387,BAC04669,BAC04688,Q96J92,NP_115763,EAW60881,EAW60882,ABY87559 Hs.105448 GDB:9954566 PHA2B|PRKWNK4 protein-coding 1344355 WNT1 wingless-type MMTV integration site family, member 1 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. 1580863 17289346,17143299,17072303,17035233,16930536,16760136,16756720,16565090,16501043,16495219,16474850,16427602,15913453,15841445,15824740,15580286,15489334,15454084,15194563,15149841,14960582,14644163,12477932,12209999,12154096,12014624,11832495,11782388,11448771,11350055,11336703,11029007,10866835,10654605,10557084,10511339,10347172,9147651,3329717,3281802,15592430,2202907,18297060,18218837,18097596,18056036,17947472,17875805,17306035,2998762,2534596 7471 NM_005430,AC073610,CH471111,CQ970104,X03072,BC074798,BC074799,BT019429 NP_005421,EAW58030,CAI38639,CAA26874,AAH74798,AAH74799,AAV38236,P04628,Q5U0N2 Hs.248164 GDB:120101 INT1 protein-coding 1315958 WNT10A wingless-type MMTV integration site family, member 10A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. 1580863 17847007,16953426,15489334,14702039,12477932,11350055 80326 NM_025216,AC073128,AF315943,CH471063,CQ970134,AB059569,AK024363,AY009400,BC003544,BC034352,BC040026,BC052234 NP_079492,AAY24175,AAG45153,EAW70659,CAI38654,BAB55602,BAB14898,AAG38660,AAH03544,AAH34352,AAH52234,Q05BQ6,Q53S44,Q9BTP0,Q9GZT5 Hs.121540 GDB:11501631 FLJ14301 protein-coding 1312744 WNT10B wingless-type MMTV integration site family, member 10B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. 1580863 16477437,15489334,12477932,12437293,11713588,11350055,10937998,9441749,9284937,8167409,17761539,9121776 7480 NM_003394,AC073610,AF028700,CH471111,CQ970136,AB070724,BC096353,BC096354,BC096355,BC096356,U81787,X97057 NP_003385,AAC39549,EAW58028,EAW58029,CAI38655,BAB72181,AAH96353,AAH96354,AAH96355,AAH96356,AAB51685,CAA65769,O00744,Q4VAJ4 Hs.91985 GDB:6054077 WNT-12 protein-coding 1344477 WNT11 wingless-type MMTV integration site family, member 11 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. 1580863 9757009,18413325,17967789,16303743,15708567,15701629,15489334,15084607,12477932,11712081,8167409,15543138 7481 AP000785,CH471076,CQ970138,Y13843,AB070218,AK075540,BC074790,BC074791,BC113386,BC113388,NM_004626,BT019492,Y12692 NP_004617,EAW74988,EAW74989,CAI38656,CAA74159,BAB72099,BAC11683,AAH74790,AAH74791,AAI13387,AAI13389,AAV38299,CAA73223,O96014,Q5U0K5,Q8N2D3 Hs.108219 GDB:9864461 HWNT11|MGC141946|MGC141948 protein-coding 1345805 WNT16 wingless-type MMTV integration site family, member 16 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. 1580863 10500199,16769578,16007226,15756456,15489334,12853948,12477932,11095990,8167409 51384 NM_016087,NM_057168,AC006364,CH236947,CH471070,CQ970140,AF152584,AF169963,BC104919,BC104945 NP_057171,NP_476509,AAQ96872,EAL24346,EAL24347,EAW83556,EAW83557,CAI38657,AAD38052,AAD49351,AAI04920,AAI04946,Q9UBV4 Hs.272375 GDB:11501645 protein-coding 736431 WNT2 wingless-type MMTV integration site family member 2 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is expressed in the thalamus. It encodes a protein which shows 96% amino acid identity to the mouse Wnt2 protein. Based on the map location of this gene in the 7q31 region, and the phenotype of the diminished social interaction in the knockout mouse, this gene is suggested as a strong candidate gene for autism, a prototypical pervasive development disorder. 1580863,2291875,2291878,2291879,2291877,2291874,727214 2971536,18184402,17534895,17386109,16407829,16132582,15900580,15896469,15878915,15489334,15048648,14702039,14533014,12853948,12690205,12477932,12147710,12138115,12063568,11840514,11712082,11449391,11290296,10557084,10347172,8168088,8167409,1846319 2291875,2291878,2291879,2291877,2291874,727214 7472 NM_003391,AC002465,AC006326,CH236947,CH471070,CQ970106,AK056742,BC029854,BC078170,BT019608,CR590617,CR595599,CR607798,CR610720,CR618429,CR621345,CR623703,CR625114,CR626404,X07876,CR612271 NP_003382,AAB67043,AAD28351,EAL24355,EAW83525,CAI38640,AAH29854,AAH78170,AAV38415,CAA30725,P09544,ABM83383,ABM86595 Hs.567356 GDB:120102 INT1L1|IRP wingless-related mmtv integration site 2 protein-coding 733303 WNT2B wingless-type MMTV integration site family, member 2B This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as human carcinogenesis. This gene produces two alternative transcript variants. 1580863 9441749,8167409,11746496,10944466,8761309,16407296,16273293,15754012,14702039,12072409,11712082 7482 NM_004185,NM_024494,AL109932,AL354760,CH471122,CQ970108,AB045116,AB045117,AF028701,AK127449,BC141825,Z71621 NP_004176,NP_078613,CAI22706,CAI22709,CAI22710,EAW56519,CAI38641,BAB11984,BAB11985,AAC39552,AAI41826,CAA96283,Q5T6T9,Q5T6U0,Q5T6U1,Q93097 Hs.258575 GDB:5218390 WNT13|XWNT2 protein-coding 1344120 WNT3 wingless-type MMTV integration site family, member 3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. 1599852,1580863 18413325,18309246,18044981,16890161,15588944,15489334,15293277,14872406,12477932,11788904,11604997,11076863,10557084,10431240,8244403,8167409,1846319 1599852 7473 CQ970110,AB067628,AY009397,BC112116,BC112118,BC114219,BF515681,NM_030753,AC004098,AC019319,CH471231 CAI38642,BAB70502,AAG38657,AAI12117,AAI12119,AAI14220,P56703,AAI11601,NP_110380,EAW57705 Hs.445884 GDB:120104 INT4|MGC131950|MGC138321|MGC138323 protein-coding 1317606 WNT3A wingless-type MMTV integration site family, member 3A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. 1580863 18413325,18242164,17888180,17822920,17698587,17595165,17546602,17544413,17458904,17211448,17137849,16799642,16710414,16621789,16565323,16227623,15489334,15454084,14739301,14722104,14702039,12897152,12805222,12629517,12556519,12477932,12067714,12052822,11836627,11788904,11414706,10866835,10557084,8168088,8167409 89780 BC103921,BC103922,BC103923,NM_033131,AL136379,CH471098,CQ970112,AB060284,AK056278 BAB71136,AAI03922,AAI03923,AAI03924,P56704,Q3SY79,NP_149122,CAI23122,EAW69829,CAI38643,BAB61052 Hs.336930 GDB:11501626 MGC119418|MGC119419|MGC119420 protein-coding 733867 WNT4 wingless-type MMTV integration site family, member 4 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and DAX1, a gene known to antagonize the testis-determining factor, play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. 1599857,1580863 18281035,18182450,18179883,17720811,16710414,16442268,16343436,15589122,15489334,15389636,15317892,15312687,15265686,15149334,12975309,12949260,12841867,12768078,12477932,12142017,11287180,11283799,10866835,9989404,9853965,8168088,8167409,2279700 1599857 54361 NM_030761,AF335591,AL031281,AL445253,AY033057,CH471134,CQ970114,AA984007,AB061675,AF086347,AF316543,AY009398,AY358947,BC007386,BC057781,BT020125 NP_110388,AAK25765,CAI19849,CAI22251,AAK50427,EAW95010,CAI38644,BAC23080,AAK51699,AAG38658,AAQ89306,AAH57781,AAV38928,P56705,Q5JYX1,Q5JYX2,Q8IUM6 Hs.25766 GDB:10796842 SERKAL|WNT-4 protein-coding 1353257 WNT5A wingless-type MMTV integration site family, member 5A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98%, 98% and 87% amino acid identity to the mouse, rat and the xenopus Wnt5A protein, respectively. The experiments performed in Xenopus laevis embryos identified that human frizzled-5 (hFz5) is the receptor for the Wnt5A ligand and the Wnt5A/hFz5 signaling mediates axis induction. 1580863 8288227,10491302,9054360,18420933,18413325,18174455,18172252,18032022,17992121,17986384,17967789,17937436,17709179,17546602,17525119,17486081,17463182,17458904,17426020,17227781,17035633,16996564,16914445,16880514,16601243,16569699,16344560,16169547,15735754,15592517,15389636,15067324,14702039,12841867,12805222,12482967,12477932,12244165,12165812,12086864,11956659,10557084,8889548,8537388,8167409 7474 L20861,NM_003392,AC121764,CH471055,CQ970116,U39837,AI634753,AK021503,AK090582,AK290375,AK290869,AU118341,BC064694,BC074783,BF218039,BM728706,BU742635,EF028086 ABK20872,AAA16842,A0FKN4,P41221,Q6DK41,Q6P278,NP_003383,EAW65310,EAW65311,CAI38645,BAF83064,BAF83558,AAH64694,AAH74783 Hs.696364 GDB:141726 hWNT5A protein-coding 1346792 WNT5B wingless-type MMTV integration site family, member 5B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 94% and 80% amino acid identity to the mouse Wnt5b protein and the human WNT5A protein, respectively. Alternative splicing of this gene generates 2 transcript variants. 1580863 16189514,15972578,15489334,15386214,12477932,12165812,11445850,10866835,8167409 81029 NM_030775,NM_032642,AC005182,CH471116,CQ970118,AB060966,AB209228,AK290430,AY009399,BC001749 NP_110402,NP_116031,EAW88925,EAW88926,EAW88927,CAI38646,BAB62039,BAD92465,BAF83119,AAG38659,AAH01749,Q59G81,Q9H1J7,ABM82782,ABM85971 Hs.306051 GDB:11504611 MGC2648 protein-coding 1312067 WNT6 wingless-type MMTV integration site family, member 6 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. 1580863 17847007,16953426,16303743,15489334,12477932,11350055,10866835,10343101,9407023,8167409,2279700 7475 AC009974,AC073128,AF079522,AF315943,CH471063,CQ970120,AB059570,AK075522,AY009401,BC004329,BT007456,NM_006522,CB960823 NP_006513,AAY24174,AAD41674,AAG45154,EAW70658,CAI38647,BAB55603,BAC11668,AAG38661,AAH04329,AAP36124,Q53S45,Q8N2E5,Q9Y6F9,ABM81696 Hs.29764 GDB:9863288 protein-coding 69159 WNT7A wingless-type MMTV integration site family, member 7A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 99% amino acid identity to the mouse Wnt7A protein. This gene not only guides the development of the anterior-posterior axis in the female reproductive tract, but also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. It is also responsive to changes in the levels of sex steriod hormone in the female reproductive tract. Decreased expression of this gene in human uterine leiomyoma is found to be inversely associated with the expression of estrogen receptor-alpha. 1601222,1580863 9161407,8893824,9790192,18413325,18230341,17588571,17201809,16835228,16826533,15802269,15705594,15082716,14550385,12937339,12893825,12857724,12477932,11784006,11232041,11070089,8168088,8167409 1601222 7476 NM_004625,AC090646,CH471055,CQ970122,BC008811,D83175,U53476 NP_004616,EAW64173,EAW64174,CAI38648,AAH08811,BAA82509,AAC51319,O00755,Q96H90,ABM83949,ABM87266 Hs.72290 GDB:1220118 wingless-related mmtv integration site 7a protein-coding 1322906 WNT7B wingless-type MMTV integration site family, member 7B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 99% and 91% amino acid identity to the mouse and Xenopus Wnt7A proteins, respectively. Among members of the human WNT family, this protein is most similar to WNT7A protein (77.1% total amino acid identity). This gene may play important roles in the development and progression of gastric cancer, esophageal cancer, and pancreatic cancer. 1581694,1601222,1580863,2292645,2293491 16227623,15489334,14702039,12477932,11562755,10866835,9284940,8168088,8167409 1581694,1601222,2292645,2293491 7477 NM_058238,XM_001718758,BX511035,CH471138,CQ970124,CR536603,AB062766,AF416743,AK123019,AK289526,BC034923,BM047487 NP_478679,XP_001718810,EAW73394,CAI38649,BAB68399,AAN32640,BAF82215,AAH34923,P56706 Hs.512714 GDB:6053863 protein-coding 1314861 WNT8A wingless-type MMTV integration site family, member 8A The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. It encodes a protein which shows 81% amino acid identity to the mouse Wnt8A protein. 1580863 18413325,11956596,11408932,8167409 7478 NM_058244,AC113382,CH471062,CQ970126,AB057725,AY009402 NP_490645,EAW62165,EAW62166,EAW62167,EAW62168,CAI38650,BAB60960,AAG38662,Q9H1J5,AAI56845 Hs.591274 GDB:681243 WNT8D protein-coding 1316953 WNT8B wingless-type MMTV integration site family, member 8B The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. 1580863 8661156,9536085,17390031,15164054,15146197,11956596,11788899,8167409 7479 NM_003393,AL133352,AL359759,CH471066,CQ970128,Y11108,AB073637,CN276452,X91940,Y11094 NP_003384,CAH73565,CAH71991,EAW49825,CAI38651,CAA71994,BAB83924,CAA63017,CAA71968,Q93098,AAI56633 Hs.421281 GDB:681241 protein-coding 1312797 WNT9A wingless-type MMTV integration site family, member 9A The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. 1580863 9441749,17429723,16710414,15809769,15489334,12573259,12477932,11836627,11414706,11239392,8167409 7483 NM_003395,AF028702,AL360269,CH471098,CQ970130,AB060283,AK131041,BC111960,BC113431 NP_003386,AAC39550,CAH71122,EAW69821,CAI38652,BAB61051,AAI11961,AAI13432,O14904 Hs.149504 MGC138165|MGC141991|WNT14 protein-coding 1319983 WNT9B wingless-type MMTV integration site family, member 9B The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. 1580863 9441749,18413325,12975309,12573259,12477932,11713592,11604992,8167409 7484 NM_003396,AC015855,AF028703,CH471231,CQ970132,AB063483,AK127268,AK127615,AY358217,BC064534 NP_003387,AAC39551,EAW57702,EAW57703,CAI38653,BAB70499,BAC86908,BAC87058,AAQ88584,AAH64534,O14905,Q6ZS96,Q6ZSP0 Hs.326420 WNT14B|WNT15 protein-coding 1352136 WRB tryptophan rich basic protein This gene encodes a basic nuclear protein of unknown function. The gene is widely expressed in adult and fetal tissues. Since the region proposed to contain the gene(s) for congenital heart disease (CHD) in Down syndrome (DS) patients has been restricted to 21q22.2-22.3, this gene, which maps to 21q22.3, has a potential role in the pathogenesis of Down syndrom congenital heart disease. 1580863 15489334,12477932,12189208,10830953,9480850,9544840 7485 NM_004627,AL163279,CH471079,AK293113,BC012415,BC111393,CR600902,CR618183,Y12478 NP_004618,CAB90454,EAX09645,EAX09646,EAX09647,EAX09648,EAX09649,BAF85802,AAH12415,AAI11394,CAA73081,O00258,Q0VGA7 Hs.702031 GDB:6380716 CHD5 protein-coding 1318280 WRN Werner syndrome This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. 1580819,1580820,1580821,1580825,1580824,1599418,1580863 16804003,16738949,16728435,16723399,16673358,16639601,16622405,16449207,16412221,16405962,16380375,16339893,16287861,16223718,16150736,16132834,16098926,16087220,16030011,15995249,15965237,15845538,15733840,15591207,15489508,15467456,15385537,15355988,15342556,15336909,15246744,15187093,15149862,15084309,15037256,15026416,14734561,14688284,14657243,14612404,14596914,14534320,14499497,12937274,12934712,12842909,12810661,12750383,12704184,12665521,12633936,12629512,12384494,12356323,12244128,12242278,12177300,12080066,12067711,12034829,12020873,11971179,11919194,11889123,11863428,11809708,11798788,11598021,11498731,11427532,11328876,11301316,11252893,11186893,11161804,11027336,10880505,10871376,10871373,10839545,10783163,10779560,10608806,10373438,10220139,10206685,10069711,10049920,9774636,9671808,9618508,9450180,9225981,9021029,8602509,1741060,14578343,17043893,16807477,12181313,9288107,11433031,9681877,11420665,12944467,18312663,18271933,18270339,18212065,18209099,18203716,18084250,17996922,17911100,17764108,17715146,17624410,17611195,17563354,17541157,17521388,17317667,17301258,17266675,17148451,17015833,16906373 1580819,1580820,1580821,1580825,1580824,1599418 7486 AB003173,AC009563,AC084736,AF032113,AF181896,AF181897,AY442327,CH471080,L76937,AB209652,AF091214,AL833572,AY818673,NM_000553,BP279291 NP_000544,AAF06162,AAR05448,EAW63424,EAW63425,EAW63426,AAC41981,BAD92889,AAC63361,AAX21098,Q14191,Q59F09 Hs.632050 GDB:128446 DKFZp686C2056|RECQ3|RECQL2|RECQL3 protein-coding 1346094 WRNIP1 Werner helicase interacting protein 1 Werner's syndrome is a rare autosomal recessive disorder characterized by premature aging. The protein encoded by this gene interacts with the N-terminal portion of Werner protein containing the exonuclease domain. This protein shows homology to replication factor C family proteins, and is conserved from E. coli to human. Studies in yeast suggest that this gene may influence the aging process. Two transcript variants encoding different isoforms have been isolated for this gene. 727771,1580863 15670210,17550899,17081983,15592455,15489334,15302935,14702039,14574404,12477932,11301316,9373149,8125298 727771 56897 CR609901,NM_130395,AL139092,CH471087,AB056152,AB209723,AF218313,AK026179,AK094823,AK223593,BC018923,NM_020135 AAH18923,Q96S55,ABM82876,ABM86062,NP_064520,NP_569079,CAH73663,CAH73664,CAH73665,CAH73666,EAW55085,EAW55086,EAW55087,EAW55088,BAB60709,BAD92960,AAF80563,BAB15383,BAD97313 Hs.236828 FLJ22526|RP11-420G6.2|WHIP|bA420G6.2 protein-coding 1353229 WS2A Waardenburg syndrome, type 2A 7951321 7487 GDB:128053 1344742 WS2B Waardenburg syndrome, type 2B 7951321 7488 GDB:407579 1317261 WSB1 WD repeat and SOCS box-containing 1 This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 11256614,18093972,16804916,16498413,16381901,15965468,15489336,15489334,14702039,12477932,12076535,11384984,11230166,11076863,10931946,10354473,9373149,8125298 26118 NM_015626,NM_134265,AC026254,CH471159,AF069313,AF072880,AF106683,AF106684,AF112205,AF147442,AF240696,AK057082,AK074917,AK222576,AL110243,AL110269,BC005226,BC021110,BC048007,BU189299 NP_056441,NP_599027,EAW51026,EAW51027,EAW51028,EAW51029,EAW51030,EAW51031,AAD20954,AAD28808,AAD43036,AAD43037,AAF17193,AAF82746,BAC11291,BAD96296,CAB53693,CAB53708,AAH05226,AAH21110,Q53HK4,Q8NC76,Q9UG25,Q9Y656,Q9Y6I7,CAL38287,CAL38541 Hs.446017 SWIP1|WSB-1 protein-coding 1346731 WSB2 WD repeat and SOCS box-containing 2 This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. 1580863 11819827,15489334,12477932,12076535,9110174,8619474 55884 NM_018639,AC131159,AC131238,CH471054,AF038187,AF163324,AF229181,BC015887,CA419381 NP_061109,EAW98117,EAW98118,AAF80478,AAF71302,AAH15887,Q9NYS7 Hs.506985 MGC10210|SBA2 protein-coding 1603698 WSCD1 WSC domain containing 1 12477932,9628581 23302 NM_015253,AC001231,AC104770,CH471108,AB011095,AK000243,AK289603,AL833730,BC009975,BE504506 NP_056068,EAW90316,EAW90317,EAW90318,EAW90319,BAA25449,BAF82292,CAH56249,AAH09975,Q658N2 Hs.370166 KIAA0523 protein-coding 1605710 WSCD2 WSC domain containing 2 18003638,14702039,12477932,9872452 9671 NM_014653,AC009729,CH471054,AB018332,AK098069,BC010411,BC037969,BC110330,BC136687,BM511109,BX488602,BX647283 NP_055468,EAW97807,EAW97808,EAW97809,BAA34509,AAH37969,AAI10331,AAI36688,Q2TBF2 Hs.143591 KIAA0789|MGC117165 protein-coding 1346811 WSN Waisman syndrome 7489 GDB:125864 69122 WT1 Wilms tumor 1 This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. Multiple transcript variants, resulting from alternative splicing at two coding exons, have been well characterized. There is also evidence for the use of non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. 1331525,1580623,1580624,1580863 17496156,17487399,17371932,17216259,17210670,17206472,17205055,17160023,16990584,16987884,16966277,16934801,16927106,16924231,16920711,16909243,16883592,16876863,16857797,16828156,16780544,16554811,16518414,16502587,16467207,16087727,15982325,15957141,15927676,7862533,8393820,7585606,18311776,18260155,18231915,18231640,18202757,18181329,18081724,18065803,18064689,18064385,18058136,18042071,17947653,17940140,17934764,17886559,17869219,17853480,17803653,17728783,17721194,17716689,17688410,17665418,17630404,17599043,17579045,17551084,17540436,17531467,17524167,17508006,15894924,15878620,15845894,15838390,15780077,15696971,15687485,15674342,15661271,15540161,15538407,15534117,15510596,15506928,15504938,15504250,15489334,15483024,15365188,15339675,15297187,15286719,15266301,15253707,15223639,15150775,15084838,14988155,14988020,14962262,14767530,14702039,14701728,14681303,14666652,12970737,12961083,12960088,12914969,12901797,12841869,12841384,12829997,12824921,12824878,12761165,12681485,12665546,12477932,12471221,12444079,12411326,12239212,12213901,12200377,12199781,12161615,12133898,12127961,12111123,12070003,11986946,11960373,11939727,11933209,11919196,11912180,11889045,11738793,11595161,11237525,11182928,11001926,10838070,10571943,9784496,9529364,9475094,9366517,9108089,9006935,8956030,8621495,8414514,8401592,8389468,8388765,8295405,8290269,8112732,8098976,8086342,7926762,7731725,6088386,2173145,2154702,2154335,1671709,1658787,1655284,1654525,1572653,1338906,1317572,1313285,1302008,16260903,16189514,8798754,8943350,9556563 1331525,1580623,1580624 7490 X74840,X77549,AK093168,AK291736,BC032861,BC046461,M30393,S75264,X51630,NM_000378,NM_024426,NM_024424,AL049692,AY245105,CH471064,M80217,M80232,S60755,S61515,S77896,U06486,U77682,X61631,X72314,NM_024425 CAA51057,BAF84425,AAH32861,AAH46461,AAA36810,AAB33443,CAA35956,A0FJ57,A0FJ58,P19544,Q4VXV4,Q4VXV5,Q4VXV6,Q6LBI3,NP_077743,NP_000369,NP_077744,NP_077742,CAC39220,CAI95758,CAI95759,CAI95760,AAO61088,EAW68220,EAW68221,EAW68222,EAW68223,EAW68224,EAW68225,EAW68226,AAA61299,AAC60605,AAB20110,AAA62865,AAD14879,CAA43819,Q6LD16,Q6PI38 Hs.591980 GDB:120496 GUD|WAGR|WIT-2|WT33 protein-coding 1354232 WT2 Wilms tumor 2 7491 GDB:118886 1321461 WTAP Wilms tumor 1 associated protein The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in three transcript variants, two of which encode the same isoform. 17095724,17088532,16912181,16189514,15489334,15302935,15009096,14675924,12522145,12477932,12444081,11001926,7788527,10942595 9589 NM_004906,NM_152858,NM_152857,AL135914,CH471051,AF277190,AF374416,AJ276706,AK127822,AK131393,AK290854,AL583911,BC000383,BC004432,BC028180,BC069192,BQ778248,CR595437,CR602556,CR602734,CR605059,CR606450,CR607182,CR610864,CR622276,CR627456,D14661 NP_004897,NP_690597,NP_690596,CAI21848,CAI21849,EAW47622,EAW47623,EAW47624,EAW47625,EAW47626,EAW47627,EAW47628,AAK07548,AAK54764,CAC10188,BAF83543,CAC29495,AAH00383,AAH04432,AAH69192,CAH10537,BAA03495,Q15007,Q5TCL9,Q6AHX7,Q9BZS4 Hs.446091 DKFZp686F20131|KIAA0105|MGC3925 protein-coding 1343375 WTIP Wilms tumor 1 interacting protein 14736876,12477932 126374 NM_001080436,AC008747,AK130059,BC030216 NP_001073905,A6NIX2 Hs.585010 protein-coding 1342868 WTS Wilson-Turner X-linked mental retardation syndrome 1746601,1605216 7492 GDB:128373 1601880 WWC1 WW and C2 domain containing 1 18378080,18205171,18194457,18190796,17707552,17353070,17053149,16684779,15489334,15081397,14702039,12559952,12477932,10048485 23286 NM_015238,AC020894,AC026689,CH471062,AB020676,AF506799,AF530058,AK001727,AK027022,AK126376,AY189820,BC004394,BC017746,BC038463,BX640827 NP_056053,EAW61508,EAW61509,EAW61510,BAA74892,AAO15881,AAQ09942,AAO73817,AAH04394,AAH17746,CAE45903,Q8IX03,AAI56528 Hs.484047 FLJ10865|FLJ23369|KIAA0869|KIBRA protein-coding 1605043 WWC2 WW and C2 domain containing 2 15302935,14702039,12477932,9373149,8125298 80014 NM_024949,AC019193,AC093844,AC099397,CH471056,AJ566366,AK025682,AK074260,AK091401,AK126057,AK127061,AK225323,AL832424,BC017957,BC053873,BC107683,BM046889,BX647378,BX647704,DN999977 NP_079225,EAX04694,CAD97477,BAB15215,BAB85032,BAC86418,BAC86807,CAH10641,AAH17957,AAH53873,AAI07684,CAH10569,CAH10570,Q6AWC2 Hs.333179 BOMB|FLJ22029|FLJ34082 protein-coding 1601752 WWC3 WWC family member 3 16344560,15489334,14702039,12477932,10574462 55841 NM_015691,AC002359,AC002365,AC121345,CH471074,AA401229,AB033106,AI130747,AI306162,AK024683,AK091936,AK292961,AL353937,BC003527,BC032447,BC035601,BC098455,BU500300,BU500742,DA728210,DB636564 NP_056506,EAW98775,EAW98776,BAA86594,BAF85650,CAH56367,AAH03527,AAH32447,AAH35601,Q9NZ80,Q9ULE0,AAI56329,AAI57115 Hs.527524 BM042|KIAA1280 protein-coding 1320534 WWOX WW domain containing oxidoreductase WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 2 WW domains and a short-chain dehydrogenase/reductase domain (SRD). The highest normal expression of this gene is detected in hormonally regulated tissues such as testis, ovary, and prostate. This expression pattern and the presence of an SRD domain suggest a role for this gene in steroid metabolism. The encoded protein is more than 90% identical to the mouse protein, which is an essential mediator of tumor necrosis factor-alpha-induced apoptosis, suggesting a similar, important role in apoptosis for the human protein. In addition, there is evidence that this gene behaves as a suppressor of tumor growth. Alternative splicing of this gene generates transcript variants that encode different isoforms. 1599874 15982416,15798093,15674328,15580310,15548692,15489334,15345747,15266310,15131042,15126504,15073846,15073125,15070730,15044096,15026124,14695174,14526170,12514174,12477932,11956080,11719429,11572989,11058590,15761153,10786676,10861292,15064722,18047428,17947476,17909041,17704139,17609426,17289881,17200365,17178850,17163164,16941225,16818616,16438931,16360296,16288044,16223882,16219768,16152610,16115915,16061658,15998374 1599874 51741 NM_016373,AF217490,AF325423,AF325429,AF325432,CH471114,AF187015,AF211943,AF227526,AF227527,AF227528,AF227529,AF395123,AF395124,AK027626,AK290438,AK291300,NM_130791,NM_130844,AC009044,AC009141,AC009145,AC027279,AC046158,AC079414,AC092376,AC106743,AC109134,AC136603,AF212843,AY256821,BC003184,BT007445,U13395 AAF78197,AAL05451,AAL05450,AAL05449,EAW95579,EAW95580,EAW95586,AAF31694,AAF27049,AAF82053,AAF82054,AAF82055,AAF82056,AAK81727,AAK81728,BAF83127,BAF83989,AAF27050,NP_057457,NP_570607,NP_570859,AAP94227,AAH03184,AAP36113,AAA21465,Q12953,Q9NZC7,Q9P1M5 Hs.461453 GDB:10796844 D16S432E|FOR|FRA16D|HHCMA56|PRO0128|WOX1|WWOX v8 protein-coding 1323344 WWP1 WW domain containing E3 ubiquitin protein ligase 1 WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. 1580863 9647693,9169421,12450395,12535537,17609263,17330240,17081983,17016436,16924229,16785210,16713569,16223724,16189514,15489334,15359284,15231748,15221015,12477932,11779188,11375995,11230166,9753456,8889548 11059 NM_007013,AC083845,AC103760,AC103817,CH471060,AK292800,AL050082,AL136739,AW137654,AY043361,AY345857,BC015380,BC036065,BM664090,U96113 NP_008944,EAW91634,EAW91635,EAW91636,EAW91637,BAF85489,CAB66673,AAK94668,AAQ22764,AAH15380,AAH36065,AAC51324,Q5YLC1,Q9H0M0 Hs.655189 GDB:9956361 AIP5|DKFZp434D2111|Tiul1|hSDRP1 protein-coding 1320797 WWP2 WW domain containing E3 ubiquitin protein ligase 2 This gene encodes a member of the NEDD4-like protein family. The family of proteins is known to possess ubiquitin-protein ligase activity. The encoded protein contains 4 tandem WW domains. The WW domain is a protein motif consisting of 35 to 40 amino acids and is characterized by 4 conserved aromatic residues. The WW domain may mediate specific protein-protein interactions. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 9647693,9169421,12450395,16964243,16713569,16189514,15548568,15489334,15252135,15231748,12477932,12167593,11748237,9595660,11046148 11060 AC026468,AC092115,CH471092,AI494370,AI635734,AJ001982,AK126332,AL527115,AL583085,BC000108,BC013645,BC064531,BU167468,BX372347,CR599492,U96114,NM_007014,NM_199423,NM_199424 NP_955456,EAW83287,EAW83288,EAW83289,BAC86528,AAH00108,AAH13645,AAH64531,AAC51325,O00308,Q6ZTQ5,ABM82100,ABM85282,NP_008945,NP_955455 Hs.408458 GDB:9956366 AIP2|WWp2-like protein-coding 1351210 WWS Wieacker-Wolff syndrome 7493 GDB:120497 1349820 WWTR1 WW domain containing transcription regulator 1 1580863 11118213,16189514,16099986,15489334,15096513,14970209,14702039,12477932 25937 NM_015472,AC012014,CH471052,AJ299431,AK022036,AL050107,AL833852,BC014052,CR608322 NP_056287,EAW78868,EAW78869,CAC17722,BAB13957,CAB43275,CAD38711,AAH14052,Q9GZV5,ABM84304,ABM87698 Hs.699296 DKFZP586I1419|TAZ protein-coding 1342496 XAB2 XPA binding protein 2 1580863 10944529,11313499,17981804,16189514,15498874,15489334,15231748,14702039,12477932,12421765,11991638,10574461 56949 NM_020196,AC008763,AF547265,CH471139,AB026111,AB033003,AF226051,AF258567,AF272147,AK025858,AK074035,BC007208,BC008778,CR591175,CR603946,CR615253,CR615981,CR749864 NP_064581,AAN17847,EAW69022,EAW69023,EAW69024,BAB15807,BAA86491,AAF86951,AAG23770,AAQ14304,BAB84861,AAH07208,AAH08778,CAH18708,Q68CN2,Q71SV8,Q9HCS7,ABM84113,ABM87507 Hs.9822 DKFZp762C1015|HCNP|HCRN|NTC90|SYF1 protein-coding 1606793 XAF1 XIAP associated factor 1 X-linked inhibitor of apoptosis (XIAP; MIM 300079) is a potent member of the IAP family. All members of this family possess baculoviral IAP (BIR) repeats, cysteine-rich domains of approximately 80 amino acids that bind and inhibit caspases (e.g., CASP3; MIM 600636). XIAP has 3 BIR domains and a C-terminal RING zinc finger that possesses E3 ubiquitin ligase (see MIM 601623) activity. XAF1 antagonizes the anticaspase activity of XIAP and may be important in mediating apoptosis resistance in cancer cells (Liston et al., 2001 [PubMed 11175744]).[supplied by OMIM] 18192275,18035482,17613533,17570219,17471152,17449173,17376236,17087954,16909101,16801630,16459719,16353137,16343440,16303760,15610524,14702039,14612497,12477932,12107411,12029096,11175744,11087668 54739 NM_199139,AC034305,CH471108,AK056908,AK091799,AK290276,AK292710,AK292848,BC032776,BC058017,BC073156,BM153640,BM459605,BM475564,NM_017523,BQ639060,BX648588,BX649188,EF028165,EF028166,X99699 NP_059993,NP_954590,EAW90287,EAW90288,EAW90289,EAW90290,EAW90291,BAF82965,BAF85399,BAF85537,AAH32776,AAH73156,CAE46206,ABM74556,ABM74557,CAA68030,Q6GPH4 Hs.441975 BIRC4BP|HSXIAPAF1|XIAPAF1 protein-coding 1606029 XAGE1A X antigen family, member 1A 10197611 653219 XM_001127185,XM_001127202,XM_001127168,XM_931959,XM_927237,NM_001097591,NM_001097592,NM_001097593,AJ400997,AX455517,CS134500,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099 XP_001127185,XP_001127202,XP_001127168,XP_937052,XP_932330,NP_001091060,NP_001091061,NP_001091062,CAC38108,CAD38240,CAJ21130,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64 Hs.112208,Hs.584511 GDB:9957204 GAGED2|XAGE-1|XAGE1 protein-coding 1625833 XAGE1B X antigen family, member 1B 17704638,17332921 653220 NM_001097594,NM_001097595,NM_001097596,BX088602,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099 NP_001091063,NP_001091064,NP_001091065,CAI40893,CAI40894,CAI40895,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64 Hs.112208,Hs.584511 protein-coding 1625844 XAGE1C X antigen family, member 1C 653048 NM_001097597,NM_001097598,NM_001097602,AL772246,AX455515,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099 NP_001091066,NP_001091067,NP_001091071,CAI41526,CAI41527,CAI41528,CAD38238,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64 Hs.112208,Hs.584511 protein-coding 1642398 XAGE1D X antigen family, member 1D This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 3 transcript variants, and one of which includes 2 transcripts generated from alternate transcription initiation sites. 12479262,17335148,16061866,15800911,15772651,15489334,12477932,11992404,11774264,10987281,10197611 9503 NM_020411,NM_133431,NM_133430,AL772246,CS134502,AF251237,AJ290447,AJ318878,AJ318879,BC009538,BT007099 NP_065144,NP_597674,NP_597673,CAI41530,CAI41531,CAJ21131,AAG01401,CAC38107,CAC82986,CAC82987,AAH09538,AAP35763,Q5JPN8,Q5JPP0,Q9HD64,AAI60078 Hs.112208,Hs.584511 protein-coding 1625843 XAGE1E X antigen family, member 1E 653067 AJ318878,AJ318879,BC009538,BT007099,NM_001097603,NM_001097604,NM_001097605,AL772246,AF251237,AJ290447 CAC82986,CAC82987,AAH09538,AAP35763,Q9HD64,NP_001091072,NP_001091073,NP_001091074,CAI41532,CAI41533,CAI41534,AAG01401,CAC38107 Hs.112208,Hs.584511 protein-coding 1350959 XAGE2 X antigen family, member 2 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in normal testis, and in Ewing's sarcoma, rhabdomyosarcoma, a breast cancer and a germ cell tumor. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. 16189514,15772651,15489334,12477932,11992404,10197611 9502 NM_130777,AJ318891,BX293536,AJ318880,BC009232,BC066311 NP_570133,CAC88125,CAI40835,CAC83007,AAH09232,AAH66311,Q96GT9,ABM84073,ABM87441 Hs.522654 GDB:9957203 GAGED3|XAGE-2 protein-coding 1348257 XAGE3 X antigen family, member 3 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. 15772651,15498874,15489334,12477932,11992404,10197611 170626 AL445236,CH471283,AF318372,AJ318881,BC062680,NM_133179,NM_130776,AJ318893 CAC83014,CAI41615,EAW57548,EAW57549,AAL55879,CAC83008,AAH62680,Q8WTP9,NP_573440,NP_570132 Hs.43879 GAGED4|MGC71925|PLAC6|XAGE-3|pp9012 protein-coding 1353781 XAGE5 X antigen family, member 5 This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. 737633 15772651,15489334,12477932,11992404 737633 170627 NM_130775,AJ318894,AL445236,CH471283,BC069129,BC103962,BC103963,BC103964 NP_570131,CAC83015,CAI41618,EAW57550,EAW57551,AAH69129,AAI03963,AAI03964,AAI03965,Q3SY47,Q3SY49,Q8WWM1 Hs.356874 GAGED5|MGC119799|MGC119800|XAGE-5 protein-coding 1352787 XBP1 X-box binding protein 1 This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. 1580863 1718857,2321018,18192112,18082745,17932454,17928342,17906960,17898050,17660348,17442311,17418411,17092596,17034899,17026957,16958950,16461360,16381901,16342282,16154272,16002735,15936534,15927087,15892135,15882996,15598891,15489336,15489334,15461802,15380296,15351732,15331160,15298659,15184063,15149721,15063770,14702039,14634507,14576841,12954762,12949534,12805554,12713871,12586069,12477932,12067985,11813207,11779464,11076863,10652269,10591208,9563853,8657566,8349596,2196176,1903538,16189514,16009131 7494 NM_005080,NM_001079539,CH471095,L13850,X55543,Z93930,AB076383,AB076384,AK093842,AK292188,BC000938,BC012841,BC015709,BI545390,CR456611,CR590520,CR592784,CR596883,CR599357,CR601294,CR602065,CR602567,CR604618,CR605083,CR605464,CR605548,CR606064,CR608173,CR608333,CR608589,CR609562,CR609625,CR615221,CR615523,CR619162,CR619584,CR621632,CR622994,CR623851,CR624460,CR624514,CR624707,CR625623,M31627 NP_005071,NP_001073007,EAW59763,EAW59764,EAW59765,CAA39149,CAB45016,BAB82981,BAB82982,BAF84877,AAH00938,AAH12841,AAH15709,CAG30497,AAA36031,P17861,Q0JSJ8,CAL38516,CAK54638,CAK54937,ABM81915,ABM85091 Hs.437638 GDB:131393 TREB5|XBP2 protein-coding 1352765 XBPP1 X-box binding protein pseudogene 1 1718857 7495 NG_003037,AC008536 GDB:125888 XBP|XBP1 pseudo 1349076 XBX1 xylan 1,4-beta-xylosidase 1 1580863 9653645 7496 U88969 AAC34952,O76044 GDB:6763970 protein-coding 1353439 XCE X chromosome controlling element 5480753,8118102 7497 GDB:9954605 1350360 XCL1 chemokine (C motif) ligand 1 1580863 7602097,18364395,16923584,16710414,15489334,14734774,14707146,14568926,12847680,12477932,12393716,12053063,11889129,11683588,11601972,11446740,11303872,11154210,11083865,10887101,10433555,9632725,9199871,9079718,9029087,8977329,8849694,7973732,7875320,7615002,11878903,15857508 6375 NM_002995,AL031736,CH471067,D63790,BC069817,BC070309,D43768,U23772,X86474 NP_002986,CAB46691,EAW90827,EAW90828,BAA09859,AAH69817,AAH70309,BAA07825,AAC50164,CAA60198,P47992 Hs.546295 GDB:682094 ATAC|LPTN|LTN|SCM-1|SCM-1a|SCM1|SCYC1 protein-coding 1354104 XCL2 chemokine (C motif) ligand 2 1580863 7875320,17763208,16710414,15489334,15340161,12477932,9632725,8849694 6846 NM_003175,AL031736,D63789,BC069360,BC070308,BE218461,CD521967 NP_003166,CAB46689,BAA09858,AAH69360,AAH70308,Q9UBD3 Hs.458346 GDB:5885824 SCM-1b|SCM1B|SCYC2 protein-coding 1322962 XCR1 chemokine (C motif) receptor 1 The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. 1580863 10679309,9632725,18426556,17403668,17135764,15777643,15489334,12477932,11446740,10702689,10400311,7832990,7683036 2829 NM_001024644,NM_005283,AC099782,AC133140,AY275469,CH471055,L36149,AB189434,AB189435,BC069075,BC069589,BC095533 NP_001019815,NP_005274,AAP32301,EAW64755,AAA62837,BAD38891,BAD38892,AAH69075,AAH69589,AAH95533,P46094,Q502V0,Q689E2 Hs.248116 GDB:371712 CCXCR1|GPR5 protein-coding 1348452 XDH xanthine dehydrogenase Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The enzyme is a homodimer. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. 1624377,1580863 12637268,12456835,12168784,12080414,11993848,11960915,11034305,10968141,9388748,9153281,9023782,8829220,8661045,8373410,8135849,7956361,7956358,7829092,7575623,8224915,8670112,18300946,17906999,17622935,17523077,17301077,17081983,16758302,15451061,14761964,12774669 1624377 7498 NM_000379,AC010743,AF203979,AL121654,AL121657,CH471053,DQ089481,AK130114,CR614711,CV574002,D11456,U06117,U39487 NP_000370,AAX76512,AAF15890,EAX00479,AAY68219,BAA02013,AAA75287,AAB08399,P47989,Q585T6,Q9UH91,AAI66696 Hs.250 GDB:266386 XO|XOR protein-coding 1349793 XG Xg blood group 1580863 8054981,12477932,10941840,10688843,7533029,6482910,3007328 7499 NM_175569,AC006209,AC138085,CH471074,AF380356,BC100764,BC100765,BC100766,BC100767 NP_780778,EAW98701,EAW98702,EAW98703,AAL04055,AAI00765,AAI00766,AAI00767,AAI00768,P55808,Q496N8,Q496N9,Q496P0,Q496P1 Hs.179675 GDB:119633 MGC118758|MGC118759|MGC118760|MGC118761|PBDX xg blood group (pseudoautosomal boundary-divided on the x chromosome) protein-coding 1602009 XGPY Xg pseudogene (Y-linked) 12815422,7633446 7500 NG_005784,AC004617 GDB:636807 pseudo 2292082 XGPY2 Xg pseudogene, Y-linked 2 8054981,7633446 646182 XM_929139,NR_003254,Z48518,Z48519 XP_934232 Hs.179675 XG|XGPY pseudo 1353420 XGR expression of XG and MIC2 on erythrocytes 7501 GDB:120533 1353417 XIAP X-linked inhibitor of apoptosis The protein encoded by this gene is a member of a family of proteins which inhibit apoptosis through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2. This protein inhibits apoptosis induced by menadione, a potent inducer of free radicals, and ICE. It also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. 1580863 9230442,11801603,16282325,16887178,8654366,11257231,18251743,18187663,18068526,18068114,18041764,18022123,17967870,17951200,17947468,17936246,17724022,17721914,17698078,17630106,17626072,17613533,17611394,17603079,17579071,17534699,17471152,17450518,17440816,17437405,17350081,16972754,16964381,16932741,16869888,16868249,16799641,16603637,16543147,16394139,16344307,16343440,16278380,16211302,16142363,15772651,15749826,15677500,15580265,15570290,15531913,15489334,15359644,15337764,15297970,15292176,15282301,15207275,15201285,15173080,15044484,15037009,15029247,14759516,14685242,14645242,14570909,14532997,14523016,14512414,12970762,12865429,12855663,12851723,12835328,12747801,12725530,12691733,12624662,12620238,12592339,12482981,12477932,12388702,12243753,12218061,12121983,12121969,12048196,11972398,11927604,11807766,11604410,11598496,11597143,11546791,11447297,11379817,11359776,11140637,10929712,9878061,9545235,9205126,8938457,8552191,16189514,15280366,12660240,12511567,11175744,11356828,15300255,15353805,15650747,15200957,17339366,17332680,17291493,17287399,17179183,17144666,17094439,17080092,17069460,17050666,17035597,17016456,17008917,16983704 331 NM_001167,NG_007264,AL022156,AL121601,AL591583,AY886519,CH471107,BC030771,BC032729,BQ423165,U32974 NP_001158,AAW62257,EAX11858,EAX11859,EAX11860,EAX11861,AAH32729,AAC50518,P98170,Q5JWR9,ABM81783,ABM84938 Hs.356076 GDB:9848649 API3|BIRC4|ILP1|MIHA|XLP2 baculoviral iap repeat-containing 4 protein-coding 1350745 XIC X chromosome inactivation center 6198418,1985270 7502 GDB:120498 1312413 XIRP1 xin actin-binding repeat containing 1 15454575,14702039,12477932,12203715,10021346,16631741 165904 NM_194293,AC092053,CH471055,AJ271461,AJ626899,AJ626900,AK095941,AK096421,AK122723,AK126299,AL713648,AL831956,AL832020,AL832459,AY375160,BC127119,BC139782,BX648565,CR749430 NP_919269,EAW64572,EAW64573,EAW64574,CAC81057,CAF25191,CAF25192,BAC04655,BAC04783,BAC86519,CAD28459,AAQ64003,AAI27120,AAI39783,CAH18268,Q702N8 Hs.447868 GDB:11505794 CMYA1|DKFZp451D042|DKFZp779C1255|DKFZp779C1947|Xin|cmya1 cardiomyopathy associated 1 protein-coding 1347436 XIRP2 xin actin-binding repeat containing 2 17046827,16344560,16205742,15454575,14702039,14687087,12477932,12203715 129446 AL832375,AL832382,AL832452,AL833291,AY820969,BC016370,BC018673,BC022446,BC022887,BC022888,BC070143,BC107799,BX647448,BX647645,BX647844,BX647845,BX647848,DB079087,EF119711,EF119717,EF119718,EF119719,NM_001079810,NM_152381,AC092601,AC093684,AC108494,AC133782,CH471058,AJ626901,AK056582,AK092683,AK096430,AK096907,AK097519,AK122889,AK123963,AK125495,AL831970,AL831985,AL832011,AL832331,AL832336,AL832360,EF119720,EF119721,EF119722 CAD91156,CAD89958,CAD91141,AAV87913,AAH18673,AAH22888,ABO69251,ABO69245,ABO69246,ABO69247,CAD91154,NP_689594,NP_001073278,AAY24138,EAX11311,CAF25193,BAB71224,BAC03945,BAC04787,BAC04891,BAC05086,CAD89919,CAD91139,CAD91146,CAD38624,CAD91137,ABO69248,ABO69249,ABO69250,A4UGR9,Q53R52,Q86T36,Q86T38,Q86T46,Q86T51,Q86T53,Q86T55,Q86T79,Q86TB6,Q8N7Z0,Q8N8F3,Q8NAH1,Q8TBV6,Q96MR0 Hs.73680 GDB:11505798 CMYA3|DKFZp451G055|DKFZp779G1747|FLJ39111|FLJ40200 cardiomyopathy associated 3 protein-coding 1353468 XIST X (inactive)-specific transcript X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIST gene is expressed exclusively from the XIC of the inactive X chromosome. The transcript is spliced but apparently does not encode a protein. The transcript remains in the nucleus where it coats the inactive X chromosome. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. 17545591,17537922,16769694,15731119,14702039,12629412,12072569,10723727,9354806,9185579,9069284,8636206,2034279,1985270,1985261,1423611,15065664,12419249 7503 NR_001564,AL353804,M97168,AK025198,AK054860,BX648323,CR596835,CR606758,CR749383,X56196,X56199 Hs.529901 GDB:126428 DKFZp779P0129|DXS1089|DXS399E|SXI1|XCE|XIC|swd66 miscrna 1351512 XK X-linked Kx blood group (McLeod syndrome) This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. 1354522,1580863 7737196,8004674,9647734,17379193,17302777,17081983,15489334,12823753,12477932,11961232,11761473,11703337,11261514,10849386,10556484,10426139,9784384,9593744,9074432,8619554,3358422,1191546,871435,16189514 1354522 7504 NM_021083,NG_007473,AB214532,AL121577,CH471141,DQ062746,AY534238,BC036019,Z32684 NP_066569,BAE48708,EAW59454,AAY43132,AAT07087,AAH36019,CAA83632,P51811,Q2Z218 Hs.78919 GDB:120499 KX|X1k|XKR1 kell blood group precursor (mcleod phenotype) protein-coding 1602431 XKR3 XK, Kell blood group complex subunit-related family, member 3 XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM] 16431037,16344560,14702039,12477932 150165 NM_175878,AC005301,AC007064,CH471193,AK098608,AY534240,AY989815,BC045548,BC137521,BC137522,DB046546 NP_787074,EAW57723,BAC05352,AAT07089,AAX86010,AAI37522,AAI37523,Q5GH77,Q86XE7 Hs.356069 MGC57211|XRG3|XTES protein-coding 1606184 XKR4 XK, Kell blood group complex subunit-related family, member 4 11572484 114786 NM_052898,AC022679,AC090200,AC103716,AC103953,AF165144,AB067476,AY534241 NP_443130,BAB67782,AAT07090,Q5GH76,AAI56156 Hs.130197 KIAA1889|XRG4 protein-coding 1604445 XKR5 XK, Kell blood group complex subunit-related family, member 5 12975309 389610 NM_207411,AF233439,CH471153,AY358489,AY534242,AY534243,CR604676 NP_997294,EAW80479,EAW80480,AAQ88853,AAT07091,AAT07092,Q6UX68 Hs.558840 UNQ2754|XRG5a|XRG5b protein-coding 1321790 XKR6 XK, Kell blood group complex subunit-related family, member 6 737633 15489334,12477932,11896452 737633 286046 NM_173683,AC011008,AC105107,AC105108,AF131215,CH471157,AJ301560,AY534244,BC024146 NP_775954,EAW65599,EAW65605,CAC82736,AAT07093,AAH24146,Q5GH73,Q96KT3 Hs.666146 C8orf21|C8orf7|XRG6 chromosome 8 open reading frame 21 protein-coding 1605535 XKR7 XK, Kell blood group complex subunit-related family, member 7 11780052 343702 NM_001011718,AL031658,CH471077,AY534245 NP_001011718,CAB88102,EAW76398,AAT07094,Q5GH72 Hs.666444 GDB:11505160 C20orf159|dJ310O13.4 protein-coding 1602706 XKR8 XK, Kell blood group complex subunit-related family, member 8 16710414,15489334,14702039,12477932 55113 NM_018053,AL512288,CH471059,CQ834414,CQ834522,AK001169,AK026024,AK054909,AK091615,AY534246,BC003606,BC013379,BC028564 NP_060523,CAI14292,EAX07717,EAX07718,EAX07719,EAX07720,CAH05422,CAH05476,BAA91531,BAB15326,AAT07095,AAH03606,AAH13379,AAH28564,Q9H6D3,Q9NW55 Hs.55024 FLJ10307|RP11-460I13.3|XRG8 protein-coding 1604439 XKR9 XK, Kell blood group complex subunit-related family, member 9 12477932 389668 NM_001011720,AC020987,AC022731,CH471068,AY534247,BC111381,BC137104,BC151845 NP_001011720,EAW86971,AAT07096,AAI37105,Q5GH70 Hs.458938 XRG9 protein-coding 1345703 XKRX XK, Kell blood group complex subunit-related, X-linked XKRX and XKR3 (MIM 611674) are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM] 16431037,15772651 402415 NM_212559,CH471115,Z73417,AY534239,AY589511,BC137010,BC137011 NP_997724,EAX02827,CAI41970,AAT07088,AAT00456,AAI37011,AAI37012,Q6PP77 Hs.592216 XKR2|XPLAC|XRG2 protein-coding 1344352 XKRY XK, Kell blood group complex subunit-related, Y-linked This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. 1580863 9381176,12815422,12477932 9082 NM_004677,NG_004636,AC007742,CH471194,AF000997,BC132883,BC132885 NP_004668,EAW69704,AAC51844,AAI32884,AAI32886,O14609,AAI48608,AAI53174 Hs.158346 GDB:9954843 XKRY1 protein-coding 1353485 XKRY2 XK, Kell blood group complex subunit-related, Y-linked 2 This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. 12815422,12477932,9847074,9381176 353515 NM_001002906,NG_004636,AC024183,BC132901,BC132903 NP_001002906,AAI32902,AAI32904,AAI41490,AAI48773 Hs.632286 XKRYP7 protein-coding 1604932 XKRYP1 XK, Kell blood group complex subunit-related, Y-linked pseudogene 1 12815422,9847074 379028 NG_004636,AC068541 pseudo 1604931 XKRYP2 XK, Kell blood group complex subunit-related, Y-linked pseudogene 2 12815422,9847074 379029 NG_004636,AC007379 pseudo 1604930 XKRYP3 XK, Kell blood group complex subunit-related, Y-linked pseudogene 3 12815422,9847074 379030 NG_004755,AC016752 pseudo 1604929 XKRYP4 XK, Kell blood group complex subunit-related, Y-linked pseudogene 4 12815422 379031 NG_004755,AC073649 pseudo 1604928 XKRYP5 XK, Kell blood group complex subunit-related, Y-linked pseudogene 5 12815422,9847074 379032 NG_004755,AC010682 pseudo 1604927 XKRYP6 XK, Kell blood group complex subunit-related, Y-linked pseudogene 6 12815422,9847074 379033 NG_004755,AC007965 pseudo 1342861 XLRL X-linked lymphocyte-regulated-like 1 (mouse) 8535073 7505 GDB:681608 1346293 XM Xm(a) antigen 7506 GDB:119634 1318735 XPA xeroderma pigmentosum, complementation group A This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. 1331525,1599876,1580863 10946233,17720715,8197175,10583946,10214908,1601884,18478970,18442012,18204222,18035379,17932354,17932351,17825393,17765667,17687452,17685459,17653764,17575242,17531525,17379210,17363013,17176115,17078101,17040931,16985021,16979838,16905156,16675950,16613913,16540648,16513681,16507781,16491090,16413230,16393248,16284373,16195237,15882075,15844177,15837542,15746040,15598786,15489334,15471894,15333465,15213713,15095299,12897146,12663511,12486030,12477932,12459522,12390028,12376498,12082027,11972036,11906820,11859086,11081631,11058119,10944529,10888881,10783332,10447254,9698541,9671271,9653453,8999876,8954802,8543191,8504220,8294029,8197174,7876263,7835901,7598728,7565690,2234061,1918083,1702221,1372103,1339397,11268218,17913280,17848622 1331525,1599876 7507 NM_000380,AF503166,AL445531,CH471105,U10347,U16815,BC014965,BT019518,CB155090,CR601727,CR624117,D14533 NP_000371,AAM18969,CAI15428,EAW58855,AAA92883,AAB60404,AAH14965,AAV38325,BAA03403,P23025,Q5T1U9,Q6LD02,ABM84550,ABM86349 Hs.654364 GDB:125363 XP1|XPAC protein-coding 1313986 XPC xeroderma pigmentosum, complementation group C 1599878,1580863 10873465,15231747,18024891,8168482,17088560,10583946,10214908,18478970,18320070,18285822,18270339,18196582,18177054,18097734,18089819,18067564,18053706,18035379,17932354,17923445,17913280,17897675,17882560,17825393,17712032,17705814,17685459,17684138,17682058,17657713,17653764,17575242,17531525,17508409,17498315,17438703,17374967,17363013,17325666,17196815,17164382,17164380,17119055,17086695,17081983,17078101,17052994,16985021,16965652,16957781,16858626,16823510,16820684,16794584,16627479,16571649,16537713,16533048,16527807,16510122,16492920,16399771,16393248,16373199,16351803,16284373,16258177,16105547,16086280,16081512,16061005,16043197,16002061,15992842,15964821,15922480,15914210,15886698,15882621,15878910,15863269,15849729,15837542,15746160,15731165,15729698,15700316,15661662,15657918,15623356,15533908,15494739,15489334,15471894,15353127,15302935,15231748,15107491,15010895,14729591,14690560,14688016,12944386,12890685,12815074,12713809,12505994,12496474,12486030,12477932,12242345,12177305,11872635,11279143,11259578,10734143,10447254,9804340,9415314,9373149,9164480,8692695,8604333,8298653,8125298,8088800,1522891,1461286 1599878 7508 NM_004628,AC093495,AF261901,AY131066,CH471055,AK222844,AK289761,AL710884,BC016620,CR615074,D21089,X65024 NP_004619,AAF87574,AAM77801,EAW64188,EAW64189,BAD96564,BAF82450,AAH16620,BAA04651,CAA46158,Q01831 Hs.475538 GDB:134769 XP3|XPCC protein-coding 733430 XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble X-prolyl aminopeptidase (EC 3.4.11.9) is a proline-specific metalloaminopeptidase that specifically catalyzes the removal of any unsubstituted N-terminal amino acid that is adjacent to a penultimate proline residue. Because of its specificity toward proline, it has been suggested that X-prolyl aminopeptidase is important in the maturation and degradation of peptide hormones, neuropeptides, and tachykinins, as well as in the digestion of otherwise resistant dietary protein fragments, thereby complementing the pancreatic peptidases. Deficiency of X-prolyl aminopeptidase results in excretion of large amounts of imino-oligopeptides in urine (Blau et al., 1988 [PubMed 3141711]).[supplied by OMIM] 11106490,15489334,15164054,14702039,12665801,12477932,10871044,9465902,9373149,8125298,3141711,1510698 7511 NM_020383,AL354951,CH471066,AF195530,AF272981,AK093693,AK095447,AK223513,AK289436,AL833411,BC005126,BC007579,BC013417,BX537682,CR456922,X95762 NP_065116,CAI14244,CAI14245,CAI14246,CAI14247,CAI14248,CAI14249,CAI14250,CAI14251,CAI14253,CAI14254,EAW49576,EAW49577,AAF97866,AAF75795,BAD97233,BAF82125,CAD38640,AAH05126,AAH07579,AAH13417,CAH18706,CAG33203,CAA65068,Q5T6G7,Q5T6G8,Q5T6G9,Q5T6H1,Q5T6H2,Q5T6H3,Q5T6H5,Q5T6H6,Q5T6H7,Q68EA4,Q9NQW7,ABW03865,ABW03612 Hs.390623 GDB:138286 SAMP|XPNPEP|XPNPEPL|XPNPEPL1 protein-coding 734376 XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. 1580863 18158172,17003818,16175507,15772651,15489334,15342556,15203218,12477932,10894934,10737800,9765967,9628831,9375790,1510698 7512 NM_003399,AF195953,AL023653,CH471107,AF086417,BC126174,BF830085,BP270314,BQ224207,BX386512,CD617070,U90724 NP_003390,AAG28480,CAA19220,CAI43039,EAX11827,AAI26175,AAB96394,O43895 Hs.170499 GDB:9834850 protein-coding 1603202 XPNPEP3 X-prolyl aminopeptidase (aminopeptidase P) 3, putative 15708373,15489334,15461802,14743216,12477932,10591208 63929 NM_022098,AL035450,CH471095,AI446638,AL365514,AL834310,BC001208,BC001681,BC004989,BC005331,BC011632,BC016735,BC023654,BC032537,BC037424,BC045166,BC053556,BX648018,CR456442,CR457396 NP_071381,EAW60397,EAW60398,EAW60399,EAW60400,CAB97210,CAD38980,AAH01208,AAH01681,AAH04989,AAH05331,CAG30328,CAG33677,Q9BS47,Q9NQH7 Hs.529163 APP3 protein-coding 735365 XPO1 exportin 1 (CRM1 homolog, yeast) The protein encoded by this gene mediates leucine-rich nuclear export signal (NES)-dependent protein transport. Exportin 1 specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. 1580863 11545741,12210765,9368044,7878053,9837918,11118210,17869244,17764157,17726064,17715235,17405816,17142760,17099693,17064665,16943420,16707848,16675447,16580684,16552725,16504563,16484227,16294017,16140268,16041368,15908946,15815621,15814838,15790592,15635413,15632073,15574332,15574331,15556946,15513923,15507209,15489334,15364930,15302935,15175654,17711849,17616652,15126627,15117971,14729966,14702039,14630927,14617633,14612415,14554087,12915405,12861014,12821127,12805458,12724356,12529437,12519765,12517958,12493914,12477932,12239324,12217955,12196506,12134041,12134013,12089160,12065584,11932251,11889117,11884594,11839808,11836381,11782423,11779848,11716535,11604520,11571268,11565755,11551912,11425870,11313479,11309306,11238447,11152524,10209022,10202161,9368759,9323133,9323132,9311922,9205132,9111043,9070945,9049309,8633082,7745679,7637788,7634337,7543368,1648487,15189895,16354571,12070164,15574333,11149927,11119609,10891499,10875611,10835362,10786834,10611974,10604476,10601307,10518602,10430904,10381392,10358091,10347184,10330396 7514 NM_003400,AC016727,CH471053,AK094339,AK124769,AK289920,AL833550,BC032847,BX492941,BX643790,BX647758,BX954288,CR609163,CR749840,D89729,Y08614 NP_003391,AAY14949,EAW99993,EAW99994,EAW99995,BAF82609,AAH32847,CAH56174,CAH18695,BAA23415,CAA69905,O14980,ABM82197 Hs.370770 GDB:9837250 CRM1|DKFZp686B1823 exportin 1 (crm1, yeast, homolog) protein-coding 1323777 XPO4 exportin 4 1580863 10944119,17353931,17081983,16449645,16344560,15057823,14702039,12477932,11214970,8889548 64328 NM_022459,AL356285,AL512652,CH471075,AA418037,AB051508,AK023108,AK057924,AK129848,AL831819,BC042504,BC050680,BC098402,BC113571,BC113573,BQ184183,BX647843,DA119417 NP_071904,EAX08281,EAX08282,EAX08283,BAB21812,BAB14409,CAD38533,AAH42504,AAH50680,AAI13572,AAI13574,Q0VG75,Q86VC1,Q8IVQ8,Q8N3V6,Q9C0E2 Hs.507452 FLJ13046|KIAA1721 protein-coding 1323025 XPO5 exportin 5 Exportin-5 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments.[supplied by OMIM] 16189514,12702765,17353931,15613540,15489334,15254228,15231748,14730017,14702039,14681208,14631048,14574404,14570900,12509441,12477932,12426393,12426392,12168954,11777942,10574462 57510 NM_020750,AL355802,CH471081,AB033117,AF271159,AF298880,AK001195,AK022718,AK023431,AK024301,AK025864,AK056619,AK127513,AK291452,AL137467,AL834207,BC000129,BC008347,BC009969,BC062635,CR597693 NP_065801,CAI42634,CAI42635,CAI42637,CAI42638,CAI42639,CAI42640,EAX04206,EAX04207,BAA86605,AAG53603,AAG17907,BAA91547,BAB14200,BAB14572,BAC87014,BAF84141,CAB70753,AAH00129,AAH08347,AAH09969,AAH62635,Q5JTE7,Q5JTE8,Q5JTF0,Q6ZSD9,Q9H8N6,Q9HAV4 Hs.203206 FLJ14239|FLJ32057|FLJ45606|KIAA1291 protein-coding 1322976 XPO6 exportin 6 Exportins, such as XPO6, recruit cargo in the nucleoplasm in the presence of RAN (MIM 601179)-GTP and form ternary export complexes. These complexes are transported through nuclear pore complexes to the cytoplasm, where GTP is hydrolyzed and the export complex is disassembled.[supplied by OMIM] 1580863 14592989,16189514,15489334,15302935,14702039,12477932,12168954,9373149,9205841,8125298,17353931 23214 NM_015171,AC136611,CH471145,AB002368,AK026172,AK123846,AK223043,AY026388,BC004403,BC014071,BC078674,BC108286,BC130304,CR601489,CR618868,CR626761 NP_055986,EAW55736,EAW55737,EAW55738,EAW55739,BAA20825,BAD96763,AAK01471,AAH04403,AAH14071,AAH78674,AAI08287,AAI30305,Q96QU8 Hs.460468 EXP6|FLJ22519|KIAA0370|RANBP20 protein-coding 1322111 XPO7 exportin 7 The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM] 1580863 11024021,11071879,17353931,15489334,15282546,12477932,9872452 23039 NM_001100161,NM_015024,NM_001100162,AC087363,AC091171,CH471080,AB018288,AF064729,AK291472,AL597247,BC014219,BC030785,CN479571,DB460798,DC332379 NP_001093631,NP_055839,NP_001093632,EAW63733,EAW63734,EAW63735,EAW63736,BAA34465,AAF21771,BAF84161,AAH14219,AAH30785,Q9UIA9 Hs.172685 KIAA0745|RANBP16 protein-coding 1313662 XPOT exportin, tRNA (nuclear export receptor for tRNAs) This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. 1580863 9512417,17224653,16707848,15489334,12477932,12138183,11024021,10657246,9857198,9660920 11260 NM_007235,AC135279,CH471054,AF039022,AK292884,BC000950,BC020569,BQ215290,CR613510,CR617666,Y16414 NP_009166,EAW97128,EAW97129,EAW97130,EAW97131,EAW97132,AAC39793,BAF85573,AAH00950,AAH20569,CAA76202,O43592 Hs.85951 GDB:9957583 XPO3 protein-coding 1354083 XPOTP1 exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1 170559 NG_001062,AL035458 GDB:11508158 XPO3P1|dJ785G19.1 pseudo 1315237 XPR1 xenotropic and polytropic retrovirus receptor 1580863 9990033,9927670,12477932,9988277 9213 NM_004736,AL162431,AL358434,AL590085,AL603884,CH471067,CQ834686,AF089744,AF099082,AF115389,AK074789,AL133058,AL137583,BC028576,BC041142 NP_004727,EAW91086,EAW91087,CAH05558,AAD10196,AAD08928,AAD17211,CAB61383,CAB70825,AAH41142,Q9UBH6 Hs.227656 GDB:9955478 FLJ90308|SYG1|X3 protein-coding 732968 XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1 The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. 1331525,1580863,1578408 14755728,15044383,8978692,18483312,18481169,18478337,18448328,18442016,18420361,18415712,18410587,18407370,18400332,18393249,18386788,18365755,18364571,18358500,18357393,18349297,18347181,18336890,18330515,18320070,18313385,18272472,18267032,18214807,18199464,18188695,18006925,18006764,17987379,17984110,17971348,17968463,17961713,17953974,17939032,17935911,17925548,17922186,17912469,17899335,17898541,17898525,17880707,17874204,17870518,17849423,17767850,17712032,17705814,17696747,17695538,17682675,17650498,17643379,17637462,17630853,17630376,17614221,17614107,17605237,17290738,17290401,17283177,17273745,17264068,17242676,17230526,17220334,17214369,17203305,17197435,17196815,17191090,17164360,17159780,17116943,17111423,17087834,17086695,17081983,17078101,17063276,17034901,17028303,17018785,17009149,16997330,16982113,16978516,16966185,16965996,16965236,16963196,16956909,16951227,16944782,16940014,16931584,16924699,16896002,16890595,16881598,16880786,16875718,16875604,16872898,16865671,17355263,17316890,16844323,16829685,16824555,16796765,16785472,16713569,16652373,16652158,16639733,16638864,16622263,16621887,16609022,17603793,17593927,17559126,17558308,17556064,17555083,17549067,17548684,17535647,17531525,17504986,17504380,17491266,17486273,17479411,17476281,17438703,17425776,17417947,17412371,17410042,17409981,17401013,17385092,17374967,17374727,17355790,16596326,16596238,16571649,16569655,16564556,16551674,16542819,16542436,16520463,16510609,16510122,16492928,16492913,16483478,16475125,16457697,16442856,16435384,16425350,16407418,16406883,16405741,16397295,16395669,16373199,16369171,16343742,16328064,16324877,16319991,16311243,16308313,16284769,16284386,16284380,16280050,16234265,16221808,16199318,16195237,16172217,16172101,16157195,16142409,16137195,16111035,16097394,16043197,16038584,16037119,16030121,16030112,16030105,16000577,15992842,15990162,15990020,15987676,15971256,15970793,15938845,15938843,15927541,15914277,15914210,15894689,15887293,15878910,15878096,15867196,15838887,15824172,15816625,15802298,15800946,15800678,15797631,15767338,15764301,15760950,15746160,15737490,15734960,15734955,15709194,15705867,15680411,15679883,15668931,15666192,15665590,15635413,15612468,15610045,15608415,15596292,15587988,15561718,15555565,15555397,15534883,15533591,15498778,15491645,15468052,15459223,15450429,15381933,15368334,15354414,15333465,15313891,15301704,15298955,15260972,15252855,15225899,15216398,15213713,15205355,15199549,15173214,15159312,15141024,12680158,12643788,12618003,12565173,12552590,12477932,12433703,12393447,12359351,12223443,12198176,12183419,12175549,12164325,12160895,12151350,12124811,12115580,12085237,12082022,12042672,12010862,11996973,11948190,11909950,11895912,11872635,11867203,11815397,11809696,11782372,11714530,11712813,11707423,11532866,11532376,11467963,11400117,11352725,11304692,11303590,15113441,15107487,15104288,15066923,15066914,15066279,15057824,15044328,15010895,14729591,14716779,14693738,14688016,14679022,14652287,14652281,14652276,14643949,14639127,14625810,14614013,14602524,14578150,14568296,14519756,14500814,12960109,12933815,12893086,12883749,12873719,12869411,12844488,12750239,12739102,12718576,12692111,11285194,11219769,11219768,11163244,11104903,11058877,10783319,10773072,10611252,9776979,9705932,9584196,9542526,9485007,9136882,8432525,8264637,7789989,7585546,7545953,2591959,2247054,15520167,17353931 1331525,1578408 7515 NM_006297,AC018758,AF512504,CH471126,L34079,Z23736,AB208781,BC023593,CR456728,CR591751,CR600609,CR610347,CR614880,CR617745,M36089 NP_006288,AAG09061,AAM34791,EAW57201,EAW57202,EAW57203,BAD92018,AAH23593,CAG33009,AAA63270,P18887,Q59HH7,Q6IBS4 Hs.98493 GDB:120737 RCC x-ray repair cross-complementing group 1 protein protein-coding 1349181 XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. 1580863 9628903,18383855,18270339,18188695,18086758,17986315,17922422,17685459,17604576,17557904,17141189,17078101,17018785,16609022,16540687,16485136,16284386,16284380,16214912,16195237,15958648,15734952,15489334,15459223,15386379,15364127,15339847,15184273,15126335,15123651,15066914,15010895,14645207,14578164,12975363,12477932,12023985,12023982,11842113,11842112,11834724,11751635,11744692,11301337,11285194,10871607,10749867,10517641,10422536,9660962,9126486,7711722,7607692,15115758,15065660 7516 NM_005431,AC003109,AC104843,AF520762,CH471173,Y17033,AF035587,BC042137,CR749256,Y08837 NP_005422,AAC05802,AAM55241,EAW53967,EAW53968,CAA76597,AAC05369,AAH42137,CAH18112,CAA70065,O43543,Q68DV8 Hs.647093 GDB:451947 DKFZp781P0919 protein-coding 1315699 XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. 1580863,1331525 9660962,18448328,18410587,18365755,18336773,18335219,18330515,18300452,18270339,18204928,18086758,18067130,18033323,17986315,17971348,17953974,17901044,17898541,17712032,17705814,17701750,17685459,17630853,17627014,17617021,17614221,17605237,17557904,17549067,17535647,17476281,17410042,17401013,17374967,17351336,17197435,17191090,17177211,17164360,17159780,17158087,17131345,17116943,17114795,17078101,17063279,17063276,17034901,17018785,16997330,16981340,16966185,16963196,16940014,16824555,16791138,16728435,16707649,16652373,16638864,16622263,16621732,16609022,16571649,16564556,16551674,16542436,16540687,16510122,16505003,16501254,16492913,16485136,16475125,16425350,16407418,16373199,16369171,16357593,16344560,16343742,16308313,16284386,16284380,16271954,16234265,16214912,16195237,16137195,16037119,16030112,16002061,15992842,15990020,15971256,15933498,15914277,15914210,15887293,15887211,15878910,15878096,15843498,15824172,15767338,15746160,15737490,15734952,15680411,15679883,15491645,15489334,15468052,15459223,15450429,15386379,15372620,15354414,15333465,15313891,15312685,15292210,15199549,15184273,15126335,15102670,15066923,15066914,15019159,15010895,15009726,14729591,14702039,14688016,14652287,14652281,14643949,14578164,14534887,14511439,12917199,12869411,12815008,12565173,12477932,12393447,12376526,12223443,12115490,12082022,12036913,12023982,11842113,11744692,11532866,11459987,11331762,11304692,11285194,11059748,10541549,9542526,7603995,975276,16189514,15115758,15065660 1331525 7517 NM_001100118,NM_001100119,NM_005432,AF037222,AF508041,AL049840,CH471061,AF035586,AK022829,AK023646,AK124498,AK126706,BC001036,BC002949,BC011725,BT007417,BX161398,CR603680,CR605233,CR610241,CR613005,CR622268,DB041321 NP_001093588,NP_001093589,NP_005423,AAC04805,AAM23015,EAW81837,EAW81838,EAW81839,EAW81840,EAW81841,EAW81842,AAC05368,AAH01036,AAH02949,AAH11725,AAP36085,CAD61884,O43542,Q53XC8,ABM83088,ABM86281 Hs.592325 GDB:624580 protein-coding 1353234 XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. This gene contains 8 exons, and alternative transcription initiation and alternative splicing generates several transcript variants. 9259561,9242410,9259651,12517771,9809069,16439205,12091904,16291214,15194694,12589063,18410587,18383855,18270339,18246529,18177646,18165945,18164646,18158905,18046455,17987338,17963495,17901044,17606631,17557904,17317666,17290226,17272270,17241822,17124166,17097754,16835328,16741161,16728435,16713569,16571728,16485136,16478998,16412978,16189514,15746160,15680411,15520013,15489334,15385968,15380105,15177042,15177040,14607114,14576825,14561766,12750264,12547193,12509254,12477932,12218164,11702069,11062157,10945980,10854421,10786799,10757784,10320474,10202163,9875844,9430729,9352367,8548796,7665175,1697445,17353931,17567543 7518 NM_022406,NM_003401,AC016568,AC022416,AC034211,AC094085,AF055278,AF055279,AY940097,CH471084,AB017445,AK290739,BC005259,BC010655,BC016314,BT007216,CR599717,CR602998,CR617390,U40622,NM_022550 Q7Z763,NP_072044,NP_071801,NP_003392,AAD47297,AAD47298,AAX14046,EAW95897,EAW95898,EAW95899,EAW95900,EAW95901,EAW95902,BAB20668,BAF83428,AAH05259,AAH10655,AAH16314,AAP35880,AAC50339,Q13426 Hs.567359 GDB:125871 protein-coding 733855 XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa) The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. 1580863 12519782,12518983,12477932,12467650,12403924,12393188,12391174,12377759,12324457,12177300,12171929,12145312,12145311,12145310,12077346,12017286,11985783,11937624,11741501,11739746,11493912,11443112,11406603,11328876,11158303,11070027,10880505,10783163,10757784,10673353,10514012,7957065,1537839,12145306,15075319,12091904,16291214,9214634,12023295,12065431,18164703,18000863,17984099,17982634,17943968,17904587,17901044,17671430,17534116,17507472,17496833,17389609,17355791,17289874,17214517,17187679,17159921,17124166,16713581,16537541,16448389,16137195,16014171,15910003,15824172,15824061,15817152,15758953,15723802,15680411,15640154,15635413,15613478,15561718,15489334,15377652,15220460,15123719,15100233,14734561,14702039,14617623,14511439,12867423,12750264,12672812,12547193,10446239,10340383,10213687,10207052,10026262,9636207,9542526,9442054,9373149,9358055,9325337,9312071,8702520,8586433,8240370,8125298,8088837,8073286,8031790,8021251,7882982,2760028,2308937,2212941,2211668,1631138,1505945,10823961,9488450,12756247 7520 NM_021141,AC008123,AC009521,AC010686,AC012513,AF039597,CH471063,DQ787434,AK026166,AK096408,AK222603,AK290740,BC019027,BC095442,CR599959,CR615055,CR625379,J04977,M30938,X57500 NP_066964,AAY14659,AAY24231,AAC52087,EAW70562,EAW70563,ABG46942,BAD96323,BAF83429,AAH19027,AAH95442,AAA59475,AAA36154,CAA40736,O43594,P13010,Q53T09,Q53TC2,ABM83586,ABM86851 Hs.388739 GDB:129045 FLJ39089|KARP-1|KARP1|KU80|KUB2|Ku86|NFIV x-ray repair complementing defective repair in chinese hamster cells 5 protein-coding 732846 XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 (Ku autoantigen, 70kDa) The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. 1580863,704404 11796732,11790298,11749722,11493912,11457852,11406603,11314007,11279128,11239001,11238996,11162511,11158303,11112778,11070027,10984620,10783163,10757784,10750018,10591208,10570175,10514012,10446239,10377944,10219089,10213687,10207052,7957065,1537839,12145306,15075319,9826654,10508516,12091904,16291214,2917966,12023295,12065431,18487076,18374504,18362350,18303113,18208821,18164703,18000863,17982634,17971348,17952468,17885668,17768380,17714764,17671430,17617666,17496833,17479409,17389609,17334224,17202845,17187679,17159921,17124166,16857680,16713581,16448389,16440001,16360032,16169070,16097034,15958648,15905197,15827325,15824061,15782130,15723802,15640154,15635413,15613478,15489334,15461802,15383276,15302935,15231748,15220460,15159402,15123719,15019772,14991539,14734561,14702039,14627815,14570916,12867423,12756247,12750264,12672812,12664629,12664628,12547193,12519782,12518983,12509254,12494870,12477932,12467650,12377759,12368356,12324457,12177300,12171929,12145309,12145308,12145307,11821378,10026262,9914162,9798959,9742108,9488450,9430697,9362500,9312071,9223317,9200330,8954777,8702520,8621488,8524317,8240370,7882982,2466842,1639139,1608402,10823961,16189514,15100233,12551933 2547 CR590963,CR593727,CR596781,CR597340,CR597702,CR598672,CR599117,CR600608,CR601209,CR601883,CR602610,CR603871,CR606444,CR606919,CR608552,CR611977,CR612325,CR612909,CR613229,CR613344,CR615167,CR616120,CR617294,CR617974,CR619333,CR623859,CR624280,J04607,J04611,M32865,S38729,CR590825,AY870329,CH471095,CS330042,Z83840,AK055786,BC001583,BC008343,BC010034,BC012154,BC018259,BC072449,CD683757,CR456492,CR542219,CR590193,NM_001469 AAA61177,AAA51733,AAA36155,AAB22381,P12956,Q6IC76,CAK54520,CAK54819,ABZ92421,NP_001460,AAW34364,EAW60446,EAW60447,EAW60448,CAL00149,CAB46206,CAQ09818,CAQ09819,CAQ09820,AAH08343,AAH10034,AAH12154,AAH18259,AAH72449,CAG30378,CAG47015 Hs.292493 GDB:119963 CTC75|CTCBF|G22P1|KU70|ML8|TLAA protein-coding 1605901 XRCC6BP1 XRCC6 binding protein 1 10219089,12477932,11571779 91419 NM_033276,AC084033,CH471054,AF078164,BC012776,BC033881,BC115381,BC115382 NP_150592,EAW97091,AAD31085,AAH12776,AAH33881,AAI15382,AAI15383,Q8N4L5,Q9Y6H3 Hs.61188 KUB3|MGC134817|MGC134818 protein-coding 1602597 XRCC6BP2 XRCC6 binding protein 2 10219089 654443 AF078528 AAD31086,Q9Y6H2 KUB4 protein-coding 1350899 XRCC8 X-ray repair complementing defective repair in Chinese hamster cells 8 8879275 7521 GDB:6873703 1348971 XRN1 5'-3' exoribonuclease 1 SEP1 localizes to cytoplasmic foci containing a complex of mRNA-degrading enzymes. In addition to mRNA metabolism, yeast Sep1 has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly.[supplied by OMIM] 1580863 15231747,17081983,15489334,14702039,14580940,14527413,12515382,12477932,12426100,11329013,9802570,9049243 54464 NM_001042604,NM_019001,AC023508,AC109992,CH471052,AK096177,AK123897,AL117516,AL133623,AY137776,BC039314,BC048104,BC078146,BG197321,BX640905,CR627160,CR627396,CR749518 NP_001036069,NP_061874,EAW78971,EAW78972,EAW78973,BAC04718,CAB63749,AAN11306,AAH39314,AAH48104,CAE45950,CAH10490,CAH18332,Q8IZH2,AAI41556 Hs.435103 DKFZp434P0721|DKFZp686B22225|DKFZp686F19113|FLJ41903|SEP1 protein-coding 1320991 XRN2 5'-3' exoribonuclease 2 This gene shares similarity with the mouse Dhm1 and the yeast dhp1 gene. The yeast gene is involved in homologous recombination and RNA metabolism, such as RNA synthesis and RNA trafficking. Complementation studies show that Dhm1 has a similar function in mouse as dhp1. The function of the human gene has not yet been determined. Transcript variants encoding different isoforms have been noted for this gene; however, their full-length nature is not known. 1580863 10409438,15231747,15565158,12429849,17639083,17081983,16964243,16648491,16147866,15635413,15489334,15302935,14702039,14527413,12477932,11780052,11230166,16189514 22803 NM_012255,AL117332,AL158013,CH471133,AF064257,AF152169,AK000084,AK001573,AK172858,AL136841,AY382900,BC000315,BC006417,BC032075,BC131775,BC142960,BF665945,BU620774,CF994999,CR602097,CR607652 NP_036387,CAH71495,EAX10186,EAX10187,AAD55138,AAQ13577,BAA90934,CAB66775,AAR24369,AAH06417,AAI31776,Q9H0D6,AAI60100 Hs.255932 GDB:9957136 protein-coding 1313568 XRRA1 X-ray radiation resistance associated 1 12908878,17295261,16344560,14702039,12477932 143570 NM_182969,AP000560,AP001992,AF439934,AK056364,AK074152,AK091449,AY163836,BC037294,BC040541,BC064584,BK000541,CR749605,DA104497,DB040217,DB082524 NP_892014,AAP97315,BAB84978,AAO23657,AAH64584,DAA00367,CAH18400,Q68D30,Q6P2D8,Q8TEH2 Hs.370145 protein-coding 1349596 XS X-linked suppressor of LU antigens 7523 GDB:119636 1601967 XTP3TPA XTP3-transactivated protein A 16169070,16189514,12477932 79077 NM_024096,AC116348,CH471192,AF210430,AF212242,AK024843,AY453409,BC001344,CR457335,CR599989,CR606515,CR614028,CR616490,CR620762,CR624207,CR624643 Q9H773,NP_077001,EAW52247,AAK48422,AAK14927,BAB15025,AAR26724,AAH01344,CAG33616 Hs.632191 CDA03|MGC5627|RS21C6 protein-coding 1353683 XWNPEP X-tryptophanyl aminopeptidase (aminopeptidase W) 7524 GDB:138287 1316534 XYLB xylulokinase homolog (H. influenzae) The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. Multiple transcripts resulting from use of alternate polyadenylation sites have been noted for this gene. 1580863 9763671,14702039,12477932,10231028 9942 NM_005108,AP006191,AP006193,BC039712,BC052984,CR603420,CH471055,AB015046,AK001205,AK022601,AK025728,BC030231 NP_005099,AAH30231,O75191,Q6PIS3,Q7Z735,EAW64531,EAW64532,EAW64533,EAW64534,BAA31527 Hs.659985 GDB:9958496 FLJ10343|FLJ12539|FLJ22075 protein-coding 737486 XYLT1 xylosyltransferase I Xylosyltransferase (XT; EC 2.4.2.26) catalyzes the transfer of UDP-xylose to serine residues within XT recognition sequences of target proteins. Addition of this xylose to the core protein is required for the biosynthesis of the glycosaminoglycan chains characteristic of proteoglycans.[supplied by OMIM] 634510,1580863 11099377,18294457,17980567,17635914,17189266,17003309,16778156,16759312,16571645,16569644,16225459,16164625,16133423,15461586,15294915,12477932,11814476,11087729,10383739 634510 64131 AC009152,NM_022166,AC099494,AC109446,CH471203,AI524006,AJ277441,AJ539163,AK000198,AL050125,BC036692,BC045778,BU620961,BX647541 NP_071449,EAW50949,CAC16787,CAD62248,Q86Y38,AAI56040 Hs.22907,Hs.610023 GDB:11501622 XT-I|XT1 xylosyltransferase 1 protein-coding 731564 XYLT2 xylosyltransferase II The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. 634510 11099377,18023272,17194707,17003309,16569644,16164625,15489334,12975309,12477932,11814476,11087729,10383739,9588955 634510 64132 NM_022167,AC015909,CH471109,AJ277442,AY358090,BC017084,BC036069,BC052262 AAI56445,NP_071450,EAW94626,EAW94627,CAC16788,AAQ88457,AAH52262,Q9H1B5 Hs.699363 GDB:11501624 XT-II|XT2|xylT-II xylosyltransferase 2 protein-coding 1314010 YAF2 YY1 associated factor 2 The protein encoded by this gene interacts with YY1, a zinc finger protein involved in negative regulation of muscle-restricted genes. This gene product itself contains a single N-terminal C2-X10-C2 zinc finger, and in contrast to YY1, is up-regulated during myogenic differentiation. It also facilitates proteolytic cleavage of YY1 by the calcium- activated protease, m-calpain, suggesting a mechanism by which this protein antagonizes the negative effect of YY1. 9016636,11593398,12706874,17081983,15489334,12477932,12004135,11953439 10138 NM_005748,AC020629,CH471111,AI654632,AK127531,AK291355,BC037777 NP_005739,EAW57834,EAW57835,EAW57836,EAW57837,EAW57838,EAW57839,EAW57840,BAF84044,AAH37777,Q8IY57,ABZ92154,ABZ92285 Hs.708084 GDB:9955300 MGC41856 protein-coding 1314421 YAP1 Yes-associated protein 1, 65kDa This gene encodes the human ortholog of chicken YAP protein which binds to the SH3 domain of the Yes proto-oncogene product. This protein contains a WW domain that is found in various structural, regulatory and signaling molecules in yeast, nematode, and mammals, and may be involved in protein-protein interaction. 1580863 7644498,18280240,18158288,17980593,17889654,17823615,17502622,17438369,17110958,17081983,16964243,16894141,16772533,16596258,16061658,15800888,15324660,15302935,15096513,15023535,12807903,12535517,12477932,12118366,11743730,11358867,11278685,11278422,10562288,10228168,9305852,9202023,7782338,7641887,15893728 10413 NM_006106,AP000942,AP001527,AP002777,CH471065,X80507,AL832620,AY316529,BC026212,BC038235,CR618214 NP_006097,EAW67011,EAW67012,EAW67013,EAW67014,EAW67015,CAA56672,CAD89963,AAP92710,AAH26212,AAH38235,P46937,Q7Z574,Q86T74,Q8IUY9,Q8TAQ4 Hs.503692 GDB:11501582 YAP|YAP2|YAP65|YKI protein-coding 1316914 YARS tyrosyl-tRNA synthetase Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. 1580863 10102815,17353931,9162081,18096501,16429158,15840810,15779907,15489334,14702039,14671330,14606043,12665801,12509991,12477932,12427973,12416978,12016229,11956181,11927599,11856731,10438485,9427763,9373149,8552597,8125298 8565 NM_003680,AC114489,AC114493,CH471059,AK026535,AK125213,AK126444,AK127182,AK127879,AK223608,BC001933,BC004151,BC016689,BC035242,CR622576,CR626320,U40714,U89436 NP_003671,EAX07506,EAX07507,EAX07508,BAD97328,AAH01933,AAH04151,AAH16689,AAB39406,AAB88409,P54577,ABM82592,ABM85779 Hs.706890 GDB:9955648 CMTDIC|TYRRS|YRS|YTS protein-coding 1606290 YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 17353931,10810093,17997975,17672918,15840810,15779907,15489334,14702039,12477932 51067 AF132939,AK024057,AK026619,AK130935,BC015625,CF594113,CR599422,CR600056,CR602460,CR603090,CR613924,CR616684,CR621180,NM_001040436,AC087588,CH471116 AAD27714,BAB14806,AAH15625,Q9Y2Z4,ABM83989,ABM87314,EAW88518,NP_001035526,EAW88517 Hs.505231 CGI-04|FLJ13995|TYRRS|mt-TyrRS protein-coding 732883 YBX1 Y box binding protein 1 1580637,1580630 1738588,12674497,15229244,3174636,12226669,18377424,18316615,18307537,18258596,18172301,18075498,17822788,17686777,17595327,17572683,17459055,17418094,17339575,17081983,16508950,16455055,16415342,16354698,16101161,16093352,15806160,15735691,15702969,15615704,15592455,15489334,15327898,15146197,15146077,15136035,15123725,14752049,14718551,14604279,14559993,12917425,12743601,12695516,12646178,12604611,12565174,12477932,12379116,12192037,12168660,12080043,11973333,11907223,11851341,11788582,11751932,11731270,11698476,11175333,11162447,10906122,10817758,10809782,10573156,10318844,9927044,9830047,9472608,9461420,9409758,8871564,8657568,8254772,8188694,7862639,7651426,7628487,2977358,1891370,15750632,10559330,10082537 1580637,1580630 4904 CR607838,CR609077,CR611343,CR613480,CR613748,CR614014,CR614365,CR617386,CR617437,CR617953,CR618087,CR618356,CR619575,CR622381,CR623505,CR625314,CR626201,CR626307,CR626550,J03827,L28809,M24070,M83234,M85234,Z70765,CR607423,NM_004559,AC098484,CH471059,X96666,BC000064,BC002411,BC010430,BC013838,BC015208,BC018393,BC020164,BC038384,BC065571,BC070084,BC071708,BC072014,BC098435,BC106045,CN353145,CR590526,CR591111,CR593602,CR594786,CR595367,CR597183,CR597479,CR599304,CR599843,CR600196,CR603148,CR603229,CR603575,CR603903,CR605858,CR606326,CR606600,BC090038 AAA61308,AAA20871,AAA35750,AAA59949,AAA36569,P67809,Q05D43,Q15905,Q6PKI6,Q7KZ24,ABM82535,ABM85728,NP_004550,EAX07148,EAX07149,CAA65446,AAH00064,AAH02411,AAH10430,AAH15208,AAH18393,AAH20164,AAH38384,AAH65571,AAH70084,AAH71708,AAH72014,AAH90038,AAH98435,AAI06046 Hs.473583 GDB:128796 BP-8|CSDA2|CSDB|DBPB|MDR-NF1|MGC104858|MGC110976|MGC117250|NSEP-1|NSEP1|YB-1|YB1 nuclease sensitive element binding protein 1 protein-coding 1344488 YBX1P1 Y box binding protein 1 pseudogene 1 7628487,2977358 50631 NG_001276,AL391261,L37516 GDB:10796247 NSEP1P|PSDBPB1 pseudo 1626569 YBX1P2 Y box binding protein 1 pseudogene 2 646531 NG_006863,AC073073,CH236947,CR601484 Hs.604234 pseudo 1606288 YBX2 Y box binding protein 2 YBX2 is a germ-cell specific member of the vertebrate Y box family of nucleic acid-binding proteins (Gu et al., 1998 [PubMed 9780336]; Tekur et al., 1999 [PubMed 10100484]).[supplied by OMIM] 10100484,18372033,18339382,16624424,16479255,16344560,15489334,14702039,12477932,9780336 51087 NM_015982,AC003688,CH471108,AB208818,AF096834,AI805280,AK092747,BC033800,BC047760,CR617829,DB065912 NP_057066,EAW90223,EAW90224,EAW90225,BAD92055,AAD30662,AAH33800,AAH47760,Q59HE1,Q9Y2T7 Hs.567494 CONTRIN|CSDA3|DBPC|MGC45104|MSY2 protein-coding 1604990 YDJC YdjC homolog (bacterial) 18177738,12477932 150223 AP000553,CH471095,BC017281,BC053663,BC057814,BC064568,BC096754,BC110075,BC110799,BC133043,BC133047,BI597711,BQ050386,CR590781,CR594858,CR596616,CR597037,CR600451,CR611449,CR613078,CR613432,CR614195,CR618402,CR620409,CR624561,NM_001017964 NP_001017964,EAW59461,EAW59462,EAW59463,EAW59464,AAH96754,AAI10076,AAI33044,AAI33048,A8MPS7 Hs.355952 MGC133160 protein-coding 1347752 YEATS2 YEATS domain containing 2 1580863 15489334,15302935,14702039,12477932,10574462 55689 AC068769,AC131160,CH471052,AB033023,AK001063,AK022903,AK023370,BC009276,BC032368,BC043393,BC082270,BC150273,CR605431,NM_018023 NP_060493,EAW78315,EAW78316,EAW78317,BAA86511,BAA91487,BAB14546,AAH32368,AAH82270,AAI50274,Q8N5H6,Q9H8R0,Q9ULM3 Hs.632575 FLJ10201|FLJ12841|FLJ13308|KIAA1197 protein-coding 1353043 YEATS4 YEATS domain containing 4 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. 1580863 10913114,9302258,16705155,15647280,15489334,15196461,14966270,14702039,12963728,12620397,12477932,11903063,11901157,11756182,11521196,8733125 8089 NM_006530,AC117502,CH471054,AJ245746,AK001413,BC000994,U61384 NP_006521,EAW97223,EAW97224,CAC01935,BAA91678,AAH00994,AAD12188,O95619,ABZ92455 Hs.4029 4930573H17Rik|B230215M10Rik|GAS41|NUBI-1|YAF9 protein-coding 1321347 YES1 v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. 1580863 1715582,17254967,2436037,18328427,17898870,17692281,17418139,17192257,17143518,17109515,17081983,17007035,16880514,16439366,16344560,16289864,16094384,15951569,15592455,15588985,15489334,15148312,15039424,14980517,12846735,12538589,12509223,12477932,12456296,12138090,10562288,10339567,9892651,9794236,8918464,8889548,8702385,8449516,7929439,7685273,7681396,7641887,7537495,7521304,3332005,2983418,2267131,2067846,1720539,1544885,1384720,12640114,12668668,12080032,11950934,11901164,11684709,11546805,11312300,11278422,11127814,11071635,11039464,10858437 7525 NM_005433,AP000894,AP001020,AP001178,CH471113,AU123956,BC031080,BC048960,BM969640,BU753688,H80401,M15990 NP_005424,EAX01709,EAX01710,AAH48960,AAA35735,P07947 Hs.194148 GDB:119637 HsT441|P61-YES|Yes|c-yes protein-coding 1346157 YESP v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene 3137198 7526 NG_001213,AL022329,D00333 GDB:120738 D22S670|SYR|YES2 pseudo 732225 YIF1A Yip1 interacting factor homolog A (S. cerevisiae) 634527,1580863 15308636,16344560,15990086,15489334,12477932,11943201,11099500,10970842,9373149,8824393,8125298 634527 10897 CR608977,CR614462,CR615524,CR617538,CR623077,DB085949,S83365,NM_020470,AP001107,CH471076,CQ834898,AF004876,AK226003,AK291124,BC001299,BC009892,CR456710,CR597866,CR598403,CR606217 EAW74509,AAB50850,O00606,O95070,NP_065203,CAH05664,AAD01206,BAF83813,AAH01299,AAH09892,CAG32991 Hs.446445 54TM|FinGER7|YIF1|YIF1P yip1p-interacting factor protein-coding 1604767 YIF1B Yip1 interacting factor homolog B (S. cerevisiae) 12975309,12477932,8889548 90522 NM_001039672,NM_001039673,NM_001039671,NM_033557,AC011479,CH471126,AF258578,AL833382,AW630507,AY358965,BC007644,BC014974,BC091477,BM703847,C02248,CR594602,CR597352,CR597805,CR598537,CR601973,CR616030 NP_001034761,NP_001034762,NP_001034760,NP_291035,EAW56771,EAW56772,EAW56773,EAW56774,AAG23781,CAI46138,AAQ89324,AAH07644,AAH14974,AAH91477,Q5BJH7 Hs.280741 FinGER8 protein-coding 1604013 YIPF1 Yip1 domain family, member 1 11256614,16381901,15489336,15489334,15466293,14702039,12477932,11230166,11076863 54432 AK000823,AL713668,BC009674,BC064590,CR595743,CR601785,CR602343,CR612966,CR615001,CR621847,CR623623,CR624867,NM_018982,AL031427,AL391003,CH471059 EAX06730,BAA91389,CAD28474,AAH09674,AAH64590,Q0JUY8,Q9Y548,CAL37672,NP_061855,EAX06727,EAX06728,EAX06729 Hs.11923 DJ167A19.1|FinGER1 protein-coding 1604600 YIPF2 Yip1 domain family, member 2 11256614,16381901,16189514,15489336,15489334,12477932,11076863 78992 AC011442,NM_024029,CH471106,BC000056,BC013014,CR591972,CR601786 NP_076934,EAW84157,EAW84158,EAW84159,AAH00056,AAH13014,Q0JVF0,Q9BWQ6,CAL37510 Hs.323213 FinGER2|MGC3262 protein-coding 1317816 YIPF3 Yip1 domain family, member 3 11256614,16381901,15489336,15489334,14702039,14574404,12490290,12477932,11230166,11076863,16189514 25844 AL355802,CH471081,AF162672,AK000946,AK021433,AK021655,AK022757,AL050274,BC019297,BE562740,BM836904,CA308984,CR533541,CR590349,CR590752,CR592266,CR595236,CR596249,CR596581,CR597677,CR598162,CR599615,CR602267,CR603202,CR603408,CR606024,CR607768,CR610470,CR610983,CR611260,CR611748,CR612415,CR615118,CR615153,CR615623,CR616384,CR616987,CR618212,CR619054,CR619437,CR619816,CR621993,CR622532,CR622890,CR623137,CR601987,NM_015388 NP_056203,CAI42622,CAI42623,CAI42624,CAI42626,EAX04203,AAM21161,BAA91439,BAB13824,BAB13866,BAB14231,CAB43375,AAH19297,CAG38572,Q0JSB0,Q0JSJ0,Q5JTD4,Q5JTD5,Q5JTD6,Q9GZM5,Q9HAM0,CAL38524,CAL38604 Hs.440950 C6orf109|DKFZP566C243|FinGER3|KLIP1|RP3-337H4.3|dJ337H4.3 protein-coding 1604267 YIPF4 Yip1 domain family, member 4 11256614,16189514,15489336,15489334,14702039,12880961,12477932,11076863,16381901 84272 NM_032312,AL121653,CH471053,AB072898,AK098486,BC004875 NP_115688,EAX00448,EAX00449,EAX00450,BAE45710,BAC05315,AAH04875,Q0JSW7,Q9BSR8,CAL38397 Hs.468099 FinGER4|MGC11061|Nbla11189 protein-coding 1602093 YIPF5 Yip1 domain family, member 5 15990086,15922870,15611160,15592455,15498874,15489334,15342556,14702039,12975309,12477932,11489904,9373149,8125298 81555 NM_001024947,AC008383,CH471062,AB014733,AF140225,AF318329,AK054576,AK124065,AK223515,AY037152,AY358863,AY640925,NM_030799,AY640926,AY640927,AY640928,AY640929,AY640934,BC007829,BC014253,BC024737,BP310538,BX647859,CR749463 NP_110426,NP_001020118,EAW61863,EAW61864,EAW61865,BAB20270,AAG48521,AAL55836,BAB70763,BAD97235,AAK67644,AAQ89222,AAV51256,AAV51257,AAV51258,AAV51259,AAV51260,AAH07829,AAH14253,AAH24737,CAH18295,Q969M3 Hs.372050 DKFZp313L2216|FinGER5|SB140|SMAP-5|SMAP5|YIP1A protein-coding 1605821 YIPF6 Yip1 domain family, member 6 11256614,16381901,16189514,15772651,15489336,15489334,14702039,12477932,11076863 286451 NM_173834,AL672138,AL928603,CH471132,AK024673,AK026979,AK095555,AK292835,AL117461,BC012469 NP_776195,CAI41477,CAI41478,EAX05376,EAX05377,BAF85524,AAH12469,Q0JS84,Q96EC8,CAL38630 Hs.82719,Hs.700646 FinGER6|MGC21416|RP13-253K9.1 protein-coding 1604708 YIPF7 Yip1 domain family, member 7 16344560,14702039,12477932,9847074 285525 NM_182592,AC093852,AC096586,AC108478,CH471069,AK096895,BC103995,BC103996,DB299886 NP_872398,EAW93015,EAW93016,BAC04887,AAI03996,AAI03997,Q8N8F6 Hs.596000 FLJ39576|FinGER9|MGC120164 protein-coding 735770 YKT6 YKT6 v-SNARE homolog (S. cerevisiae) This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. 15215310,15479160,9211930,16821082,16354670,16344560,15544955,15489334,15044687,14702039,14607937,12690205,12477932,12388752,11927603,11884350,11474112,9373149,8125298 10652 NM_006555,AC006454,CH236960,CH471128,AF091079,AK075018,AK097209,AK223488,AU130339,BC007319,BT007078,CR456989,CR542008,CR617047,U95735 NP_006546,EAL23763,EAW61111,EAW61112,EAW61113,AAC72948,BAD97208,AAH07319,AAP35741,CAG33270,CAG46805,AAB81131,O15498,Q9UES0,ABM81579,ABM84759 Hs.520794 prenylated snare protein protein-coding 1351286 YLPM1 YLP motif containing 1 1302519,1580863 17890166,17081983,16344560,15511642,15489334,15302935,14702039,12508121,12477932,7596406 1302519 56252 NM_019589,AC006530,AC007956,AK090435,AK095760,AL832365,BC007792,BC023570,BC044636,BX102033,DB096717,L40396,L40400,L40403 NP_062535,AAF61275,BAC03416,AAH07792,AAH23570,AAH44636,AAC42006,AAC42008,P49750,Q6PJ41,Q86YA8,Q8NBB9,Q8NF45 Hs.531111 C14orf170|ZAP|ZAP3 protein-coding 733459 YME1L1 YME1-like 1 (S. cerevisiae) The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Two transcript variants encoding different isoforms have been found for this gene. 1580863,727774 15489334,15164054,14702039,12975309,12477932,12214059,11042152,10930580,10843804 727774 10730 AJ132637,AK001259,AK022930,AK291292,AY358484,BC007795,BC019602,BC023507,BC024032,CR611030,NM_014263,NM_139312,AJ295618,AL160291,AL162272,CH471072,AF018171,AF070656,AF151782 AAK57555,CAB51858,BAF83981,AAQ88848,AAH07795,AAH19602,AAH23507,AAH24032,Q5T8D2,Q5T8D9,Q6PJ89,Q96I63,Q96TA2,Q9NQ51,Q9Y2Q2,NP_055078,NP_647473,CAB99462,CAI16904,CAI16905,CAI16906,CAI16907,CAC19650,CAI12217,EAW86068,EAW86069,EAW86070,EAW86071,EAW86072,AAB70570,AAD20962 Hs.74647,Hs.499145 GDB:9958227 FTSH|MEG4|PAMP|YME1L protein-coding 1349839 YME1L2 YME1-like 2 (S. cerevisiae) 10591208 23749 NG_002636,AP000535 GDB:10795353 pseudo 1604806 YOD1 YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA8 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM] 16710414,14702039 55432 NM_018566,AL445493,CH471100,AK128014,AL833081,BC137167,CR590739 NP_061036,CAH70775,CAH70776,EAW93509,BAC87233,CAD89975,AAI37168,Q5VVQ6 Hs.567533,Hs.711982 DKFZp451J1719|DUBA8|OTUD2|PRO0907|RP11-164O23.1 protein-coding 1351763 YPEL1 yippee-like 1 (Drosophila) This gene encodes a potential zinc-binding protein and is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein may play a role in the regulation of cellular morphology and may function during craniofacial development. 1580863 15556292,15489334,15461802,14702039,12477932,11473580,7757816 29799 NM_013313,AP000553,CH471095,AB098734,AB098735,AF060862,AF305069,AI004498,AK096530,AW006162,AW161786,BC015229,BC034486,BC048303,BC074501,BI461654,BI559478,BI836931,BQ422551,CR456376,CR616192,Z41424,CR933630 NP_037445,EAW59478,BAD51375,BAD51376,AAC15461,AAL09353,AAH34486,AAH74501,CAG30262,O60688,CAI45937,CAK54512,CAK54811 Hs.517436 GDB:10796468 FKSG3|MGC64992 protein-coding 1604154 YPEL2 yippee-like 2 (Drosophila) 15556292,15489334,14702039,12477932 388403 BC132886,NM_001005404,AC091059,AL831930,CH471109,AA604677,AB098736,AF305195,AI540782,AK096866,AK097253,BC127924,BC132884 AAI32885,AAI32887,Q96QA6,NP_001005404,EAW94407,EAW94408,EAW94409,EAW94410,BAD51377,AAL09354,AAI27925 Hs.463613 DKFZp761C2021|FKSG4 protein-coding 1347620 YPEL3 yippee-like 3 (Drosophila) 15556292,15489334,14702039,12477932 83719 NM_031477,AC012645,CH471238,AB098737,AF305622,AK022409,AK026047,BC005009,BC050664,CR598881,CR604822,CR606841,CR611674,CR623470 NP_113665,EAW79922,EAW79923,EAW79924,EAW79925,BAD51378,AAL09365,AAH05009,AAH50664,P61236,Q86VK6 Hs.513491 MGC10500 protein-coding 1345149 YPEL4 yippee-like 4 (Drosophila) 1580863 15556292,15489334,14702039,12477932 219539 NM_145008,AP000662,CH471076,AB098738,AK054775,AK054967,AK124577,BC029228,BC064995,BC104781,BC111012,BC112119 NP_659445,EAW73765,EAW73766,EAW73767,EAW73768,EAW73769,BAD51379,BAB70805,AAH29228,AAI04782,AAI11013,AAI12120,Q8N6P9,Q96NS1 Hs.135978 FLJ30213|MGC102723|MGC138324 protein-coding 1320113 YPEL5 yippee-like 5 (Drosophila) 15815621,15556292,15489334,12477932,11240639,10810093 51646 NM_016061,NM_001127399,NM_001127400,NM_001127401,AC016907,CH471053,AB098739,AF135161,AF151885,AF172940,AK025730,BC000836,BC047237,CR590716,CR612144,CR612194,CR615384,CR617186,CR617677,CR620890,CR622707,CR623255,DB484378 NP_057145,NP_001120871,NP_001120872,NP_001120873,AAY14780,EAX00499,EAX00500,EAX00501,EAX00502,EAX00503,EAX00504,EAX00505,BAD51380,AAF43785,AAD34122,AAD47882,AAH00836,AAH47237,P62699 Hs.515890 CGI-127 protein-coding 1606217 YRDC yrdC domain containing (E. coli) 2675563,16024787,12730717,12477932 79693 NM_024640,AL929472,CH471059,AF250397,AK027129,AK129676,AL524812,AY172561,AY286019,AY286020,BC008984,BC067857,BC068057,BC080186,CR593798,CR606796,CR612568,CR615600,CR625266 NP_078916,CAH70083,EAX07317,EAX07318,AAQ14263,BAB15668,AAO41711,AAP37053,AAP37054,AAH08984,AAH68057,AAH80186,Q4W4X8,Q6NVW3,Q7L4E4,Q7Z2I4,Q86U90,AAH67857 Hs.301564 DRIP3|FLJ23476|FLJ26165|IRIP|RP11-109P14.4|SUA5 protein-coding 1604798 YSK4 yeast Sps1/Ste20-related kinase 4 (S. cerevisiae) 15815621,15489334,14702039,12477932 80122 NM_025052,AC016725,AC020602,CH471058,AK026727,AK097522,AK122935,AK131216,AY574901,AY574902,AY574903,AY574904,AY574905,BC034417,NM_001018046,BC137276,BC137277,BG484791 NP_001018056,NP_079328,AAY14999,EAX11642,EAX11643,BAB15538,AAT81410,AAT81411,AAT81412,AAT81413,AAT81414,AAH34417,AAI37277,AAI37278,Q56UN5 Hs.659395 FLJ23074|RCK protein-coding 732940 YTHDC1 YTH domain containing 1 15302935,15175272,14702039,12755701,12477932,12368078,11853319,10973987,10564280,11118435,9473574,15345239,15489334,17081983,16964243,16565220,16344560,15815621 91746 NM_133370,NM_001031732,AC074378,CH471057,AB075846,AK056430,AK090836,AK098515,AL157447,AL832559,BC041119,BC053863,DA191646 NP_588611,NP_001026902,AAY41024,EAX05570,EAX05571,BAB85552,BAB71181,AAH41119,AAH53863,Q96MU7 Hs.175955 KIAA1966|YT521|YT521-B splicing factor yt521-b protein-coding 1348696 YTHDC2 YTH domain containing 2 737633 17081983,15302935,14702039,12477932,9373149,8125298 737633 64848 NM_022828,AC010389,AC093208,CH471086,AK000915,AK025593,AK095368,AK096486,AK131450,AK225316,AL049305,AW052121,BC019100,BC137285,BE295472,BM827416,CA943109,CB268902,CR614354,CR627037 NP_073739,EAW48978,EAW48979,EAW48980,BAB15183,BAD18595,AAI37286,Q6ZMY0,Q9H6S0 Hs.231942 protein-coding 1318986 YTHDF1 YTH domain family, member 1 15489334,14702039,12477932,11780052 54915 NM_017798,AL096828,CH471077,CQ834648,AB055518,AK000398,AK095795,AL834366,BC003681,BC016920,BC025264,BC050284,CR594400 NP_060268,CAC09391,CAI23456,EAW75305,EAW75306,CAH05539,BAB62751,BAA91138,CAD39029,AAH03681,AAH16920,AAH25264,AAH50284,Q9BYJ9 Hs.11747 C20orf21|FLJ20391 protein-coding 1344237 YTHDF1P YTH domain family, member 1 pseudogene 402220 NG_004396,AC106748 pseudo 1322711 YTHDF2 YTH domain family, member 2 1580863 10508479,16799135,16344560,12477932 51441 NM_016258,AL356786,AL645729,CH471059,CQ834214,CQ834216,AF155095,AF192968,AF432214,AK074276,AK292581,BC002559,BF792382,CR593745,CR594279,CR595878,CR599207,DA697091 NP_057342,EAX07673,EAX07674,EAX07675,CAH05322,CAH05323,AAD42861,AAF08813,AAL99921,BAF85270,AAH02559,Q9Y5A9,ABM83083,ABM86278 Hs.532286 HGRG8|NY-REN-2 yth domain family 2 protein-coding 1352303 YTHDF2P YTH domain family, member 2 pseudogene 10508479 400209 NG_004109,AL132639 HGRG8|NY-REN-2 pseudo 1313142 YTHDF3 YTH domain family, member 3 737633 11256614,16381901,15489336,15489334,15342556,14702039,12477932,11230166,11076863 737633 253943 NM_152758,AC011978,CH471068,AK002173,AK056219,AK093081,AK127574,AL050081,AL831816,AL832005,AL832335,AL832369,BC037492,BC052970,BP223018,BX537996 NP_689971,EAW86864,EAW86865,EAW86866,EAW86867,BAB71122,BAC04046,CAD38530,CAH56224,CAH56223,AAH52970,CAH56480,Q0JRX8,Q658Z6,Q7Z739,Q8N3V9,Q8NA80,Q96MZ5,CAL38359,CAL38736 Hs.491861 FLJ31657 yth domain family 3 protein-coding 1349494 YWHAA tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide 7527 GDB:217080 737527 YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. 1331525,1580863 10441394,10407019,9921901,9705322,9581554,9524113,9428519,9422753,9369453,9367879,9341175,9144171,8702721,8617504,8515476,8037685,7890696,7644510,15103018,16968670,15265780,15142377,15708996,16189514,12620389,15163635,17353931,9543386,15454081,10644344,10559254,11520933,15231831,12963375,9069260,10195903,12657644,17717073,17531190,17229891,17098443,17081065,16679322,16581770,16368544,16282323,16166738,16045749,16024783,15883043,15726117,15629149,15489334,15389601,15324660,15324659,15229649,15159416,15057270,15022330,14743216,14680818,14679215,14676191,12937170,12919677,12911633,12871587,12669242,12665801,12618428,12582162,12507503,12482592,12477932,12468542,12453887,12446771,12438239,12437930,12424248,12364343,12360521,12176984,11996670,11985497,11984006,11912194,11886850,11784866,11780052,11555644,11549316,11531413,11313964,11279064,10931830,10869435,10862767,10840038,10785390,10775038,10713667,10620507 1331525 7529 NM_003404,NM_139323,AL008725,CH471077,AB209759,AF064847,AF107406,AK292717,AL834170,BC001359,BC010352,BF316820,CR595602,CR603709,CR614687,X57346 NP_003395,NP_647539,CAA15497,CAI95660,CAI95661,EAW75893,EAW75894,EAW75895,EAW75896,BAD92996,AAD44524,BAF85406,AAH01359,AAH10352,CAA40621,P31946,Q4VY19,Q4VY20,Q59EQ2,Q9Y649 Hs.709214 GDB:217081 GW128|HS1|KCIP-1 tyrosine 3-monooxgenase/tryptophan 5 monooxgenase activation protein, beta polypeptide protein-coding 1354151 YWHAD tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide 7530 GDB:217082 1350802 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. 17081065,16923798,16679322,16581770,16407301,16189514,16045749,16043481,15883043,15838597,15722337,15635413,15494311,15489334,15369779,15364926,15229649,15023544,14970201,14966136,14702039,14559997,14517258,12919677,12917326,12796778,12757707,12665801,12657644,12621583,12507503,12477932,12438239,12176984,12154078,10788521,7644510,17728103,17430600,17278997,10713667,10644344,10559254,10441394,10407019,10088721,9524113,9452471,9427749,9371399,9369453,9312143,9144171,9111084,8858348,8702721,8684458,7615088,11208609,16968670,15265780,15142377,15708996,11504882,14679215,14743216,12042314,11985497,11953308,11912194,11864996,11784866,11782387,11533041,11531413,11486037,11278287,11172812,11118213,11114197,10887173,10869435 7531 CR617332,CR619511,CR620149,CR622415,CR622589,CR623549,CR624231,U20972,U28936,U43399,U43430,U54778,NM_006761,AB017103,AC022202,AC032044,CH471108,AK128785,AY883089,BC000179,BC001440,BM755263,BT007161,CR589991,CR593257,CR594680,CR595118,CR599291,CR600610,CR605234,CR608365,CR609747,CR609773,CR609824,CR610427,CR610584,CR611764,CR612456,CR615586 AAC50175,AAA75301,AAC50625,AAD00026,AAC50710,P62258,Q4VJB6,ABW03326,NP_006752,BAA32538,EAW90627,EAW90628,EAW90629,AAX68683,AAH00179,AAH01440,AAP35825 Hs.513851 GDB:217083 14-3-3E|FLJ45465|KCIP-1|MDCR|MDS protein-coding 736065 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. 12819209,12665801,12507503,12506198,12477932,12438239,12364343,12154078,11996670,11886850,11531413,11237865,10880354,10785390,10559254,9524113,8930394,8702721,8037685,7939645,15708996,15265780,15142377,15057270,14743216,14702039,12853948,12482592,10433554,11824616,10486217,17611984,17394238,17284169,17109079,16581770,16516142,16223726,16189514,16045749,15883043,15598710,15489334,15324660,15159416,15778465,12176984,17353931 7532 NM_012479,AC005522,AC006388,CH471220,AB024334,AF142498,AK024230,BC020963,CR541904,CR541925,CR598331 NP_036611,EAW71804,BAA85184,AAD48408,AAH20963,CAG46702,CAG46723,P61981 Hs.520974 GDB:217084 14-3-3GAMMA protein-coding 737555 YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat has been associated with early-onset schizophrenia. 1331525,1580863 9079630,15790729,17611984,16581770,16545136,16459651,16045749,15580267,15489334,15461802,15324660,15023544,14743216,14690447,14676191,12919677,12871946,12730237,12665801,12595070,12507503,12480176,12477932,12438239,12177059,12176995,12176984,12042314,11996670,11969417,11953308,11886850,11864996,11533041,11531413,11352901,11266503,11121172,10713667,10591208,10441394,10330186,10206237,9799109,9738002,9705322,9524113,9428519,9369453,9299557,9278512,9110174,8812417,8702721,8668348,8619474,8617504,8561965,8515476,8218406,7690594,7615088,7499362,2902623,1578511,16968670,15708996,15142377,15265780,15696159 1331525 7533 S80794,X57345,X78138,CR622989,CR624998,CR625039,L08439,L20422,CR600773,CR601517,CR602331,CR603635,CR605523,CR606891,CR607325,CR607383,CR608665,CR611605,CR611926,CR614044,CR614377,CR614662,CR615723,CR600694,CR616670,CR617151,CR617238,CR618712,CR618980,CR619423,CR621211,CR622695,NM_003405,D78577,X80536,Z82248,AY007132,BC003047,CH471095,CR456612,CR593026,CR593097,CR593529,CR596240,CR596702,CR600337 AAB36036,CAA40620,CAA55017,Q04917,Q9H4N8,CAK54639,CAK54938,AAA35483,NP_003396,EAW60001,EAW60002,EAW60003,BAA11418,CAA56676,CAB05112,CAM26628,CAM26629,AAG01995,AAH03047,CAG30498 Hs.226755 GDB:127888 YWHA1 protein-coding 734393 YWHAQ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. 1580863 16367866,16215457,16176975,16045749,15930726,15902271,15883043,15489336,15489334,15324660,15231748,15196694,15159416,15023544,14743216,12919677,12853467,12665801,12535517,12501243,12477932,12438239,12426317,12177059,12176984,12042314,11984006,11864996,11433030,11080204,11076863,11024037,10862767,10854065,10835362,10785390,10713667,10664457,10611249,10441394,10092600,10066823,9369453,9360956,9110174,9058808,8929531,8668348,8663231,8619474,8515476,7603573,7479742,2015305,15708996,15265780,11266503,12816952,14970201,15163635,18249187,18089831,17973628,17913709,17617058,17389761,17369524,17190946,16713569,16679322,16581770,16516142,16381901,16368544,14597563,17353931,15454081,15367659,15694340 10971 AC073195,AC082651,CH471053,CS185527,AF070556,BC001197,BC050601,BC056867,BC093019,BT020014,CR590208,CR590303,CR591592,CR594792,CR600718,CR603466,CR607940,CR613794,NM_006826,CR614998,CR615240,CR616469,CR616856,CR617682,CR620125,CR621014,CR624722,X56468,X57347 NP_006817,AAX93143,AAY24326,EAX00977,EAX00978,EAX00979,CAJ42708,AAC28640,AAH01197,AAH50601,AAH56867,AAH93019,AAV38817,CAA39840,CAA40622,P27348,Q0JTC7,Q0JTF5,Q53RR5,Q53S41,CAL38208,CAL38216,CAL38236,CAL38550 Hs.74405 GDB:9958886 14-3-3|1C5|HS1 protein-coding 1353658 YWHAQP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta pseudogene 319121 NG_002502,AL356800 YWHAQP1 pseudo 1348668 YWHAQP2 YWHAQ pseudogene 2 11080204 246716 NG_001580,Z82201 pseudo 736756 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Two transcript variants differing in the 5' UTR, but encoding the same protein, have been identified for this gene. 1625714 16114898,16130169,18319590,18290843,18162532,18078716,17918986,17764575,17719568,17704798,17317006,17081983,17081065,16679322,16581770,16516142,16413928,16368544,16306228,16246723,16223362,16169070,16123035,16045749,15721295,15660133,15616007,15489334,15389569,15364926,15363479,15347690,15324660,15234461,15229649,15225635,15159416,15073173,15054037,15037601,15036595,15028637,14970201,14743216,14690436,14676191,12963375,12919677,12861023,12853467,12819209,12764136,12757707,12665801,12615066,12589811,12477932,12468542,12438239,12364343,12361576,12323073,12215538,12176995,12176984,11985497,11956222,11950841,11917136,11912208,11912194,11563969,11486037,9425086,9452471,9428519,9398266,9367879,9360956,9312143,9299557,9197417,9153224,9144171,8668348,8631758,8617504,8278375,8101440,8037685,8034572,7939633,7939632,7628630,7603574,7547034,7536343,1577711,16968670,15265780,15142377,11531413,15708996,11504882,12893243,15163635,17353931,9261098,9305890,15629715,8024705,11533041,7559537,10644344,11427721,11410287,11359875,11336675,11331285,11287646,11257119,11237865,11178869,11124266,10887173,10864927,10840038,10785390,10713667,10642536,10627461,10611249,10559254,10488331,10477722,10455159,10441394,10411906,10407019,10224112,10102273,10026197,9705322,9620776,9581554,9524113,9512661,9454760 1625714 7534 NM_003406,NM_145690,AC018781,AC027373,CH471060,AK289945,AK315867,BC003623,BC013265,BC051814,BC063824,BC068456,BC070389,BC072426,BC073141,BC083508,BC099904,BC101483,BC108281,BC111951,CR606956,CR607781,CR608094,CR611466,CR612878,CR614741,CR623456,CR623658,CR624253,CR625952,DQ185048,M86400,S79449,U28964 NP_003397,NP_663723,EAW91823,EAW91824,EAW91825,EAW91826,EAW91827,EAW91828,EAW91829,BAF82634,BAF98758,AAH03623,AAH51814,AAH63824,AAH68456,AAH72426,AAH73141,AAH83508,AAH99904,AAI01484,AAI08282,AAI11952,ABD14427,AAA36446,AAD14300,AAC52052,P63104,Q2F831,Q6LD62,ABM82632,ABM85810 Hs.492407 GDB:217085 KCIP-1|MGC111427|MGC126532|MGC138156 protein-coding 1346698 YWHAZP1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1 319120 NG_002501,AL355888 YWHAZP tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene pseudo 1342734 YWHAZP2 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2 399497 1354163 YWHAZP3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3 143371 NG_001545,AL139281 pseudo 1604196 YWHAZP4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4 246737 NG_001587,AL109939 pseudo 1626537 YWHAZP5 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5 86123 NG_001531,AL591363 pseudo 736235 YY1 YY1 transcription factor YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. 1580831,1580832,628455,1580863 9016636,1946405,1655281,18389627,18339860,17980704,17973241,17925399,17721549,17556661,17549406,17434929,17353273,17192956,16963455,16954376,16918502,16769183,16565220,16314465,16260628,16170350,16143308,15955096,15942652,15870067,15831475,15805285,15782117,15586248,15489334,15302935,15295102,15291746,15210108,15153544,15084399,12913000,12808092,12805085,12788099,12754214,12588874,12571248,12483538,12477932,12411495,12393438,11940654,11777930,11532945,11486036,11448987,11287625,11158321,10888618,10866666,10452940,10369680,10224053,9685495,9642075,9493912,9371597,9346952,9278494,8942976,8289393,8268924,8266081,7912122,7758944,7541038,16189514,12920132,8327494,8917507,7769693,14610174 1580831,1580832,628455 7528 NM_003403,AF047455,AL157871,CH471061,AF147416,AK025731,AK026497,BC014138,BC020324,BC037308,BC065366,CR592603,CR611552,M76541,M77698,Z14077 NP_003394,EAW81689,EAW81690,AAH37308,AAH65366,AAA59926,AAA59467,CAA78455,P25490,ABM82564,ABW03401 Hs.388927 GDB:216988 DELTA|NF-E1|UCRBP|YIN-YANG-1 protein-coding 1605369 YY1AP1 YY1 associated protein 1 The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. 16713569,17541814,16710414,16381901,16189514,15489336,15489334,15302935,14744866,14702039,12477932,12118372,11856496,11710830,11230166,11076863,9373149,8125298 55249 NM_139118,AL162734,BX088689,CH471121,AF203474,AF206328,AF466401,AK001737,AK023976,AK125590,AK225883,AY604179,BC001655,BC001843,BC003500,BC008766,BC009358,BC014906,BC025272,BC044887,NM_139119,CR622167,CR749789 NP_620830,NP_620829,CAH71642,CAH71643,CAH71644,CAH71645,CAH71646,CAM45731,CAM45732,CAQ09423,CAH73350,CAH73351,CAH73352,CAH73353,CAH73354,EAW53052,EAW53053,EAW53054,EAW53055,EAW53056,EAW53057,EAW53058,EAW53059,EAW53060,AAO13249,AAL74055,AAL75971,BAA91871,BAB14748,AAT34990,AAH01655,AAH01843,AAH08766,AAH09358,AAH14906,AAH44887,CAH18650,Q0JRY7,Q0JTE1,Q5VYZ1,Q68CT8,Q9H869,CAL38222,CAL38727 Hs.584927 FLJ10875|FLJ13914|HCCA1|HCCA2|YAP|YY1AP protein-coding 1354472 YY2 YY2 transcription factor 737633 16344560,16260628,15087442,14702039,12477932 737633 404281 NM_206923,CH471074,U73479,AK091850,AY567472,BC137215,BC137217,DA961884,DB459498 NP_996806,EAW98983,AAD08633,AAS68634,AAI37216,AAI37218,O15391 Hs.673601 ZNF631 protein-coding 1604695 ZAC1 zinc activated ligand-gated ion channel 1 LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM] 12381728,16083862,12477932,15286800 353174 NM_180990,AC018665,CH471099,AB223030,AF512521,AK122638,BC110596,BC110597 NP_851321,EAW89365,EAW89366,BAE19924,AAO20969,BAC85499,AAI10597,AAI10598,Q401N2 Hs.514496 L2|LGICZ|LGICZ1|MGC129841|ZAC protein-coding 1321465 ZADH1 zinc binding alcohol dehydrogenase, domain containing 1 1580863 17449869,15489334,15004468,14702039,12477932 145482 NM_152444,AC005520,CH471061,AK096410,AY346133,AY424308,BC059364,BX641118,CR611156 NP_689657,EAW81132,EAW81133,EAW81134,EAW81135,BAC04781,AAR05101,AAR82927,AAH59364,CAE46055,Q3L8A4,Q8N8N7 Hs.632344 DKFZp686P10120|FLJ39091|PGR-2|PGR2 protein-coding 1320648 ZADH2 zinc binding alcohol dehydrogenase, domain containing 2 737633,1580863 15489334,12477932 737633 284273 NM_175907,AC025105,CH471117,AK292880,BC010734,BC018081,BC033780,BC064618,BC075853,BC078661,BX647730,CR610486 NP_787103,EAW66569,BAF85569,AAH10734,AAH18081,AAH33780,AAH78661,Q4G1C4,Q8N4Q0,Q96FJ6 Hs.591065 MGC45594 protein-coding 1601997 ZAK sterile alpha motif and leucine zipper containing kinase AZK This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 11836244,10924358,15342622,17192257,16964243,16344560,16189514,15815621,15737997,15684425,15489334,15485649,15465036,15324660,15172994,14702039,12761180,12535642,12477932,12220515,11549352,11042189,15778465 51776 AK056310,AK095825,AK096877,AK291825,AL833180,BC001401,BF055268,CB955745,CR598198,CR606268,DA993056,AF238255,AF251441,AF325454,AF465843,AF480461,AF480462,AI799498,NM_016653,NM_133646,AC013461,AC019046,AC092573,CH471058,CQ834626,AA258354,AB030034,AB049733,AB049734,AB208974 BAF84514,AAH01401,Q9NYL2,AAF63490,AAF65822,AAK11615,AAO33376,AAL85891,AAL85892,NP_057737,NP_598407,AAX93067,AAX82002,EAX11164,EAX11165,EAX11166,CAH05528,BAB12040,BAB16444,BAB16445,BAD92211 Hs.444451 AZK|MLK7|MLT|MLTK|MRK|mlklak protein-coding 1312837 ZAN zonadhesin This gene encodes a sperm membrane protein that binds the zona pellucida of the egg in a species-specific manner. The encoded protein may be involved in signaling or gamete recognition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 9126492,17033959,14759258,11239002,9799793 7455 AC009488,AC011895,AF053356,AF312032,AY046055,CH471091,AF332975,AF332976,NM_003386,NM_173059,AF332977,AF332978,AF332979,AF332980,U83191 NP_003377,AAC78790,AAK21011,AAL04410,AAL04411,AAL04412,AAL04413,AAL04414,AAL04415,EAW76487,EAW76488,EAW76489,EAW76490,EAW76491,EAW76492,AAK01431,NP_775082,AAK01432,AAK01433,AAK01434,AAK01435,AAK01436,AAC51208,A0FKC8,Q9Y493 Hs.307004 GDB:1313471 protein-coding 1349191 ZAP70 zeta-chain (TCR) associated protein kinase 70kDa This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. 1580863,1599880 10660534,10458769,10449770,10419455,10318843,10221598,10209036,10074432,10037717,9698567,9685404,9490415,9464824,9403695,9378960,9362531,9169414,9047237,8943371,8761298,8756661,8702662,8638162,8530437,8366117,8202713,8202712,8082894,7961936,7819147,7798261,7760813,7737297,7629168,9269777,7522245,16189514,8798643,15735648,10790433,16094384,12504004,12477932,12450381,12447358,12393534,12387734,12165490,12154360,12084069,12051764,11976341,11964272,11855827,11781312,11572860,11412303,11390470,11368773,11279207,11133830,10979964,10966114,10867021,1423621,7528772,11891219,12359715,12646565,7630421,8176201,11048639,17652306,18322442,18203013,18190465,18048647,18025306,18022252,17948236,17931624,17926183,17785822,17767948,17702857,17577788,17534928,17512407,17492476,17375875,17222799,17215865,17192257,17051526,17038529,16932341,16823829,16642047,16538501,16467082,16418492,16412387,16406604,16339550,16300468,16291755,16263570,16219325,16096284,16079107,16079094,15996927,15972449,15923611,15861514,15856008,15800671,15759031,15699074,15592455,15588985,15514014,15489334,15370248,15358536,15292186,15190462,15144186,15143214,15133473,15100278,15059847,14985102,14766232,14672952,14560012,14557276,12847255,12817019,12778467,12648457,12595313,12522270 1599880 7535 NM_001079,NM_207519,NG_007727,AC016699,AC017099,CH471127,AB083211,AK310628,AK310637,AL832287,BC039039,BC053878,L05148 NP_001070,NP_997402,AAX93187,EAX01918,EAX01919,BAC43747,AAH39039,AAH53878,P43403 Hs.234569 GDB:433738 FLJ17670|FLJ17679|SRK|STD|TZK|ZAP-70 protein-coding 1351487 ZAR1 zygote arrest 1 The female gamete, the oocyte, serves the distinct purpose of transmitting the maternal genome and other maternal factors critical for postovulation events. Oocytes have diverse functions in ovarian folliculogenesis, fertilization, and embryogenesis. ZAR1 is an oocyte-specific gene that appears to function at the oocyte-to-gamete transition (Wu et al., 2003 [PubMed 12539046]).[supplied by OMIM] 1580863 16551357,12773403,12539046 326340 NM_175619,AC096952,AY193890,CH471069,AY191416 NP_783318,AAO24709,EAW93062,AAO24707,Q86SH2 Hs.276457 protein-coding 1602864 ZBBX zinc finger, B-box domain containing 14702039,12477932,8889548 79740 NM_024687,AC107311,AC117463,CH471052,AK026702,AK093296,BC034229,CB321707 NP_078963,EAW78589,BAB15532,A8MT70,Q8NE87 Hs.478143 FLJ23049 hypothetical protein flj23049 protein-coding 1348579 ZBED1 zinc finger, BED-type containing 1 9887332,17220279,17209048,16713569,16189514,15489334,12663651,12477932,9872452,8889548 9189 NM_004729,AC079176,CH471074,Y17156,AB018328,BC015030,BM980254,CR597100,Y16947 NP_004720,EAW98691,EAW98692,CAA76660,BAA34505,AAH15030,CAA76545,O96006,ABM84566,ABM86530 Hs.131452 ALTE|DREF|KIAA0785|TRAMP|hDREF zinc finger, bed domain containing 1 protein-coding 1348309 ZBED2 zinc finger, BED-type containing 2 1580863 15489334,12477932,16341674 79413 NM_024508,AC055748,CH471052,BC003536,BC071956,BE740032,BM847001,D78844 NP_078784,EAW79699,EAW79700,AAH03536,AAH71956,Q9BTP6 Hs.136912 MGC10796 zinc finger, bed domain containing 2 protein-coding 1320128 ZBED3 zinc finger, BED-type containing 3 1580863 15489334,12477932,9373149 84327 NM_032367,AC008581,CH471084,AK223624,BC007239 NP_115743,EAW95790,EAW95791,BAD97344,AAH07239,Q53EL5,Q96IU2 Hs.584988 MGC15435 protein-coding 1314283 ZBED4 zinc finger, BED-type containing 4 1580863 17209048,15461802,12477932,10591208,9734811 9889 NM_014838,AL117328,CH471138,AA809789,AB014537,BC117670,BC117671,BC167155,CR456387,CR592522,DB457646 NP_055653,CAB62924,EAW73479,BAA31612,AAI17671,AAI17672,AAI67155,CAG30273,O75132,Q08ED9,Q1ECU0,CAK54377,CAK54676 Hs.475208 zinc finger, bed domain containing 4 protein-coding 1603615 ZBED5 zinc finger, BED-type containing 5 This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon. There is mRNA and EST evidence to suggest that this gene is transcribed. The encoded protein shares 70% identity with Charlie 1 transposase, however, this gene does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The exact function of this gene product is not known. 16344560,15231748,14702039,12477932,10607616 58486 Q49AG3,Q86WW3,Q9NT24,Q9UBJ4,Q05D82 NM_021211,AC069360,AF205601,CH471064,AF205600,AK022942,AK025407,AK025829,AL137577,BC017803,BC038508,BC047754,BQ028130,DA059122,DB100756 NP_067034,AAF18455,EAW68550,AAF18454,CAB70820,AAH17803,AAH38508,AAH47754,Q05D82,Q49AG3,Q86WW3,Q9NT24,Q9UBJ4 Hs.655066 protein-coding 1351033 ZBP1 Z-DNA binding protein 1 DLM1 encodes a Z-DNA binding protein. Z-DNA formation is a dynamic process, largely controlled by the amount of supercoiling.[supplied by OMIM] 632620,1580863 11842111,16448869,15489334,14702039,12477932,11780052,11524677,10364558 632620 81030 BC131706,NM_030776,AL035541,CH471077,AJ300575,AK122761,AK128405,AK290918,BC028218 AAH28218,AAI31707,Q9H171,NP_110403,CAI23107,EAW75509,EAW75510,EAW75511,EAW75512,EAW75513,CAC18810,BAF83607 Hs.302123 GDB:11505208 C20orf183|DAI|DLM-1|DLM1 protein-coding 1343689 ZBTB1 zinc finger and BTB domain containing 1 1580863 15489334,15334068,15146197,12477932,10231032,8889548 22890 NM_014950,NM_001123329,AL049869,CH471061,AB023214,AK291743,AW965994,AY598321,BC050719,BM975910,BX248777,BX537646,CN362091 Q9Y2K1,ABZ92308,NP_055765,NP_001116801,EAW80863,BAA76841,BAF84432,AAT06732,AAH50719,CAD66584,Q5UW39 Hs.655536 KIAA0997 protein-coding 1348951 ZBTB10 zinc finger and BTB domain containing 10 737633 15489334,14702039,12477932 737633 65986 NM_001105539,NM_023929,AC009812,AJ507398,CH471068,AJ319673,AK022814,AK056913,BC050061,BC127097,BC127098,BC148254,CA865977 NP_001099009,NP_076418,CAD45447,EAW87075,EAW87076,EAW87077,EAW87078,EAW87079,CAC40989,BAB14256,BAB71309,AAH50061,AAI48255,Q96DT7,Q9H9H3 Hs.591868 FLJ12752|RINZF protein-coding 1317955 ZBTB11 zinc finger and BTB domain containing 11 1580863 12477932,16344560,15231748,14702039 27107 NM_014415,AC084198,CH471052,AB208862,AI636025,AK023488,AK312859,BC028062,BC029342,BC111700,DA907277,U69274 NP_055230,EAW79786,BAD92099,BAG35711,AAI11701,AAD00172,O95625,Q2NKP9,Q59H97 Hs.301956,Hs.655286,Hs.709394 FLJ13426|MGC133303|ZNF-U69274 protein-coding 1342499 ZBTB12 zinc finger and BTB domain containing 12 1300397,1580863 15489334,14656967,14574404,12477932,9545376,8939933 1300397 221527 NM_181842,AF134726,AL662834,AL671762,AL844853,BA000025,CH471081,CR388219,CR759784,BC043609 NP_862825,AAD21810,CAI17750,CAI18229,CAI41855,BAB63293,EAX03545,EAX03546,EAX03547,CAQ07475,CAQ09313,AAH43609,Q9Y330 Hs.234027 Bat9|C6orf46|D6S59E|G10|NG35 protein-coding 1352454 ZBTB16 zinc finger and BTB domain containing 16 This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. 1599922,1580863 9294197,8622986,12802276,8541544,18417445,18348865,18262754,18000064,17881917,17537403,17515885,17340613,17118363,17082479,16828757,16676348,16637071,16189514,16169070,15968309,15964811,15949438,15623533,15489334,15467736,15231748,15219838,15196694,15077196,15065091,14982881,14702039,14657020,14645547,14597771,14527952,14521715,12970399,12821938,12590135,12477932,12460926,12408802,12242665,12145280,12004059,11964310,11929873,11920278,11719366,11175338,11161217,11106752,11090081,10791968,10688654,10572087,10537309,10500192,10497277,10433962,9770450,9627120,9531570,9256429,8889548,8387545,8384553,9486654 1599922 7704 NM_006006,NM_001018011,AF060568,AF076613,AF076615,AF076616,AP000908,AP002518,AP002755,CH471065,S60093,AB208916,AK126422,BC026902,BC029812,BM969145,BX648973,Z19002 NP_005997,NP_001018011,AAD03619,AAC32847,AAC32848,AAC32849,EAW67241,EAW67242,AAC60590,BAD92153,AAH26902,AAH29812,CAA79489,Q05516,Q59H43,Q71UL5,Q71UL6,Q71UL7,ABZ92254 Hs.591945,Hs.682144 PLZF|ZNF145 protein-coding 1347626 ZBTB17 zinc finger and BTB domain containing 17 This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. 1580863 9308237,12244100,11068878,9373149,9312026,9256341,8125298,7557990,1946370,1505991,15231747,12356872,12193603,15856024,17947461,17880999,17418410,17082179,17050536,16710414,16537485,16352593,16344560,16167342,15752756,15616584,15489334,14739298,12840021,12545156,12477932,12408820,11545736,11283613 7709 NM_003443,AL034555,AL355994,CH471167,M88369,AK223618,AK226168,BC126163,BQ575263,DB064089,U20647,Y09723 NP_003434,CAB85445,CAI19524,CAI19525,EAW51757,EAW51758,AAA61327,BAD97338,AAI26164,AAC50256,CAA70889,Q13105,Q53EM1 Hs.433764 MIZ-1|ZNF151|ZNF60|pHZ-67 protein-coding 1315344 ZBTB2 zinc finger and BTB domain containing 2 1580863 16051665,15489334,14702039,14574404,12477932,10819331 57621 AJ420526,NM_020861,AL590413,CH471051,AB040916,AK092886,AK291942,AL832957,BC020172 NP_065912,CAI13589,EAW47751,EAW47752,BAA96007,BAF84631,CAH56321,AAH20172,Q658W5,Q8N680,ABZ92365 Hs.520073 ZNF437 protein-coding 1351632 ZBTB20 zinc finger and BTB domain containing 20 1580863 16381901,15489336,12477932,11352661,11230166,11076863,10965110,9373149,8125298 26137 NM_015642,AC055739,AC069063,AC069506,AC078986,AC083886,AC092915,AC131152,AC138977,CH471052,AF139460,AK225788,AK290116,AL050276,BC010934,BC015587,BC029041,BC090936,BX647778,BX648237 NP_056457,EAW79598,AAG28340,BAF82805,CAB43377,AAH29041,CAH56190,Q9HC78,CAL37476,ABZ92319 Hs.655108,Hs.693802 DKFZp566F123|DPZF|HOF|ODA-8S|ZNF288 protein-coding 1352119 ZBTB22 zinc finger and BTB domain containing 22 1580863 9545376,16189514,15489334,14702039,14574404,12477932,9521053 9278 NM_005453,AL662820,AL662827,BX248088,CH471081,CR759817,Z97183,AK095978,BC018541 NP_005444,CAI18123,CAI17526,CAI41787,EAX03721,CAQ08033,AAH18541,O15209,Q5HYV4 Hs.206770 GDB:9955600 BING1|ZBTB22A|ZNF297|ZNF297A|fru|fruitless zinc finger protein 297 protein-coding 1315856 ZBTB24 zinc finger and BTB domain containing 24 1580863 16189514,15489334,14574404,12477932,12168954,9455477,17353931 9841 NM_014797,AL109947,CH471051,AB007901,BC036731,BC117374,BC117376,BX648883 NP_055612,CAI23346,EAW48338,BAA23713,AAH36731,AAI17375,AAI17377,O43167 Hs.409876 BIF1|PATZ2|ZNF450 protein-coding 1344853 ZBTB25 zinc finger and BTB domain containing 25 1580863 16189514,2027750,16713569,15489334,14702039,12477932 7597 NM_006977,AL049869,CH471061,AK098181,BC035804,BM550005,X16576 NP_008908,EAW80859,EAW80860,EAW80861,AAH35804,CAA34595,P24278,ABZ92441 Hs.654571 GDB:127822 KUP|ZNF46 protein-coding 1318405 ZBTB26 zinc finger and BTB domain containing 26 1580863 15489334,14702039,12477932,10997877 57684 NM_020924,AC007066,CS300792,AB046792,AF323460,AK057445,AK058083,BC018748 ABZ92366,NP_065975,CAK32456,BAB13398,AAL55969,AAH18748,Q9HCK0 Hs.5638 KIAA1572|ZNF481|bioref protein-coding 1353634 ZBTB3 zinc finger and BTB domain containing 3 1580863 15489334,15231748,14702039,12477932 79842 NM_024784,AP001160,CH471076,AK027045,BC025249 NP_079060,EAW74088,EAW74089,BAB15636,AAH25249,Q9H5J0,ABM83768,ABW03537 Hs.147554 FLJ23392 protein-coding 1604369 ZBTB32 zinc finger and BTB domain containing 32 10572087,17171645,16713569,16189514,15489334,12821938,12477932,11986317,14499622,11964310,10544010 27033 AC002314,AD000671,AF130255,AF165097,BC017700,NM_014383 NP_055198,AAD27708,AAD48448,AAH17700,Q9Y2Y4 Hs.99430 FAXF|FAZF|Rog|TZFP|ZNF538 protein-coding 1351169 ZBTB33 zinc finger and BTB domain containing 33 10207085,16381901,16230345,15953356,15817151,15781635,15772651,15592455,15564377,15548582,15489336,15489334,14702039,14699141,14527417,12477932,11461664,11445535,11230166,11076863,15543138 10009 AK092998,AK094230,AL833604,AL833856,BC042753,BX538016,BX538101,NM_006777,AC002086,CH471107 CAD91170,CAD38715,AAH42753,CAD97963,CAD98016,Q0JTI0,Q86T24,CAL38182,NP_006768,AAB54087,EAX11891 Hs.143604 ZNF-kaiso|ZNF348 protein-coding 1353753 ZBTB34 zinc finger and BTB domain containing 34 16718364,14702039,12477932,12056414 403341 NM_001099270,AL160169,AL354944,AB082524,AK055661,AK074274,BC020929,BC035710,DQ227306 NP_001092740,BAC02702,AAH20929,ABA86591,Q5VYE9,Q8N674,Q8NCN2 Hs.177633 FLJ22470|KIAA1993|MGC24652|RP11-106H5.1 protein-coding 1352612 ZBTB37 zinc finger and BTB domain containing 37 737633 16710414,16344560,15489334,14702039,12477932 737633 84614 NM_001122770,NM_032522,AL136170,CH471067,AF318371,AK057310,BC003116,BC006315,DA790498,DA796002 NP_115911,NP_001116242,CAI19420,CAI19421,CAI19422,EAW90967,EAW90968,AAL55878,BAB71422,AAH03116,AAH06315,Q5TC79,Q8WYT0 Hs.668497 D430004I08Rik|MGC2629 protein-coding 1603531 ZBTB38 zinc finger and BTB domain containing 38 18391951,17081983,16641997,16354688,16344560,14702039,12477932 253461 NM_001080412,AC010184,AC117383,CH471052,AA683353,AK025985,AK055693,AK092355,AK094201,AL833148,BC008901,BC015444,BC022936,BC051734,BC072415,BC107745,CR596380,DA347543,DC420906 NP_001073881,EAW79004,EAW79005,BAB15309,BAB70986,BAC03868,AAI07746,Q32Q70,Q8NAP3,Q9H6F0 Hs.518301 CIBZ|FLJ22332|FLJ31131|FLJ35036 protein-coding 1605102 ZBTB39 zinc finger and BTB domain containing 39 9205841 9880 NM_014830,AC026120,CH471054,AB002350,AK292468,BC146867,BC140890,BC152461 NP_055645,EAW96971,BAA20809,BAF85157,AAI40891,AAI46868,AAI52462,O15060,Q9UD98 Hs.591025 KIAA0352 protein-coding 1316223 ZBTB4 zinc finger and BTB domain containing 4 737633,1580863 16354688,14702039,12477932,10819331 737633 57659 NM_020899,AC113189,CH471108,AB040971,AK027143,AK122826,AK122971,AY302699,BC015902,BC033259,BC043352,BC131774 NP_065950,EAW90185,BAA96062,AAP59447,AAH33259,AAH43352,AAI31775,Q9P1Z0 Hs.700622 KAISO-L1|KIAA1538 protein-coding 1604838 ZBTB40 zinc finger and BTB domain containing 40 18445777,16710414,16344560,15302935,14702039,12477932,12168954,10737800,9455484 9923 NM_001083621,NM_014870,AL035703,AL358788,CH471134,AB007947,AK091019,AK095273,BC114607,BF919358,DA248977,DA326727,DA787818 NP_001077090,NP_055685,EAW95011,EAW95012,BAA32323,BAC04518,AAI14608,Q1RMZ5,Q5TFU4,Q9NUA8 Hs.418966 KIAA0478|MGC133098 protein-coding 1603485 ZBTB41 zinc finger and BTB domain containing 41 16710414,14702039,12477932,10737800 360023 NM_194314,AL356315,AL627208,CH471067,AK128549,AW856335,AY163816,AY336933,BC043426,BC132818,BC136600,BX640886 NP_919290,EAW91275,BAC87496,AAN71742,AAP97434,AAI32819,AAI36601,CAE45940,Q5SVQ8,Q8N9U5 Hs.529439 DKFZp686C06120|FLJ36199|FRBZ1|RP11-469L3.1 protein-coding 2290506 ZBTB42 zinc finger and BTB domain containing 42 664720 XM_001717198,AX721091,BC157833 XP_001717250,AAI57834 protein-coding 1321100 ZBTB43 zinc finger and BTB domain containing 43 1580863 16542149,16189514,15489334,12477932,9455477 23099 NM_014007,AL161731,CH471090,AB007874,AF049907,AK026123,BC008828,BT007194 NP_054726,CAI40919,CAI40920,EAW87643,BAA24844,AAC05500,AAH08828,AAP35858,O43298,Q5JU96,Q5JU97 Hs.591903 GDB:9954763 ZBTB22B|ZNF-X|ZNF297B zinc finger protein 297b protein-coding 1606019 ZBTB44 zinc finger and BTB domain containing 44 15489334,15231748,15146197,14702039,12477932,12107412,11042152,16189514 29068 NM_014155,AC019227,AP001183,CH471065,AF161548,AI446067,AK023933,AK024659,AK026770,AK096676,AK130071,BC030580,BC040658,BC049375,BC050723,BC071729,CD671410,CN423489,CR615509 NP_054874,EAW67777,AAF29035,AAH30580,AAH49375,AAH50723,AAH71729,Q8NCP5,Q9NZX4,ABM81802,ABM84957 Hs.178499 BTBD15|HSPC063|MGC26123|MGC57431|MGC60348|MGC88058 protein-coding 1322100 ZBTB45 zinc finger and BTB domain containing 45 1580863 16169070,15489334,14702039,12477932 84878 NM_032792,AC012313,CH471135,AK027392,AL831909,BC024738,CR613426 NP_116181,EAW72602,EAW72603,EAW72604,BAB55079,CAD38572,AAH24738,Q8NDR3,Q96K62,ABZ92075 Hs.515662 DKFZp547H249|FLJ14486|ZNF499 protein-coding 1345627 ZBTB46 zinc finger and BTB domain containing 46 15489334,14702039,12477932,12136098,11780052 140685 NM_025224,AL121845,CH471077,AK023564,AK126720,AK131482,BC052269,BC073800 NP_079500,CAI21885,EAW75205,EAW75206,BAC86657,BAD18627,AAH52269,AAH73800,Q6ZMU8,Q6ZTD4,Q86UZ6 Hs.585028 GDB:11505696 BTBD4|FLJ13502|RINZF|ZNF340|dJ583P15.7|dJ583P15.8 btb (poz) domain containing 4 protein-coding 1343623 ZBTB47 zinc finger and BTB domain containing 47 737633 15489334,12477932,10574461 737633 92999 NM_145166,AC006059,CH471055,AB033016,AK127065,AL133062,BC021855 NP_660149,EAW64662,BAA86504,BAC86810,CAB61386,AAH21855,Q6ZSY6,Q9UFB7 Hs.409561 DKFZp434N0615|KIAA1190|ZNF651 protein-coding 1346774 ZBTB48 zinc finger and BTB domain containing 48 1580863 8661141,16189514,15489334,12477932,9516840,7969177,2850480 3104 NM_005341,AL591866,CH471130,M20677,U45324,U45325,AF318381,AK290156,BC013573,BX648395,L16896 NP_005332,CAI16077,CAI16078,CAI16079,EAW71555,EAW71556,EAW71557,AAA35989,AAB08973,AAB08974,AAL55888,BAF82845,AAH13573,AAA65124,P10074,Q5SY20,Q5SY21,Q6LCP1,Q8WYS1,ABM85099,ABM85100 Hs.502330 GDB:120047 HKR3|pp9964 gli-kruppel family member hkr3 protein-coding 1316525 ZBTB5 zinc finger and BTB domain containing 5 1580863 16189514,15489334,12477932,9205841 9925 NM_014872,AL158155,CH471071,AB002352,BC010007,AK292404,CR603598,CR626350 NP_055687,CAI13852,EAW58282,AAH10007,BAA20811,BAF85093,O15062,Q5T942 Hs.161276 protein-coding 1314374 ZBTB6 zinc finger and BTB domain containing 6 1580863 7958847,15489334,15231748,12477932 10773 NM_006626,AC007066,CH471090,AK098650,AK292401,BC037282,CR607983,X82018 NP_006617,EAW87552,BAF85090,AAH37282,CAA57543,Q15916,ABZ92297 Hs.654596 ZID|ZNF482 zinc finger protein 482 protein-coding 1350408 ZBTB7A zinc finger and BTB domain containing 7A 15337766,17595526,17081983,15917220,15662416,15489334,15302935,14701838,12750370,12477932,12004059,11907272,9973611,9927193,8889548 51341 NM_015898,AC016586,CH471139,AF000561,AF097916,AL390151,BC019108,BC080608,BC084568,BC113511,BM696365,BQ082585,BQ711712,CB047382,CB242327 NP_056982,EAW69266,EAW69267,EAW69268,EAW69269,EAW69270,EAW69271,EAW69272,AAB58414,AAC72973,AAH19108,AAH84568,AAI13512,O95365,Q5XG86,Q8TB76 Hs.591384 DKFZp547O146|FBI-1|FBI1|LRF|MGC99631|ZBTB7|pokemon zinc finger and btb domain containing 7 protein-coding 1314302 ZBTB7B zinc finger and BTB domain containing 7B ZFP67 is an early growth response gene that encodes a zinc finger-containing transcription factor that binds to the promoter regions of type I collagen genes (e.g., COL1A1; MIM 120150) and has a role in development.[supplied by OMIM] 1580863 16189514,15489334,12477932,11691585,10856292,9421237,9370309,7937772,17698844,16710414 51043 NM_015872,AL451085,CH471121,AF007833,AK127884,AK291619,BC012070,BF510901,CK820289,CR749303 NP_056956,CAI13266,EAW53149,EAW53150,EAW53151,AAC51847,BAF84308,AAH12070,CAH18158,O15156,ABZ92023 Hs.505855,Hs.700874 GDB:11508181 DKFZp686G01254|THPOK|ZBTB15|ZFP67|c-Krox|hcKrox zinc finger protein 67 homolog (mouse) protein-coding 1606940 ZBTB7C zinc finger and BTB domain containing 7C 17932560,14702039,9427755,1716694 201501 NM_001039360,AC105042,AC105101,AK095226,EF120357 NP_001034449,ABL98073 Hs.515388 APM-1|FLJ37907|ZBTB36 protein-coding 1318711 ZBTB8 zinc finger and BTB domain containing 8 737633,1580863 16344560,14702039,12477932,16189514 737633 653121 Q8IUL5,Q8IWR9,Q8N2Y5,Q96BR9,Q96BX0 DA530035,NM_001040441,XM_001131675,AL033529,AF548353,AK074546,AY157873,BC015067,BC015239,BC029654 Q8IUL5,Q8IWR9,Q8N2Y5,Q96BR9,Q96BX0,NP_001035531,XP_001131675,CAI20023,CAI20024,AAN40800,BAC11050,AAN77376,AAH15067,AAH15239,AAH29654 Hs.546479 BOZF1|FLJ90065|MGC17919 protein-coding 1603245 ZBTB8OS zinc finger and BTB domain containing 8 opposite strand 12477932 339487 NM_178547,AC114489,AL033529,AL138800,CH471059,AK289480,AY099493,AY099494,AY151084,AY151085,AY158005,BC058843 NP_848642,CAI20020,CAI20021,EAX07516,EAX07517,EAX07518,EAX07519,BAF82169,AAM34477,AAM34478,AAN75223,AAN75224,AAO16589,AAH58843,Q7Z617,Q8IWT0 Hs.655921 ARCH|ARCH2|MGC62007 protein-coding 1354226 ZBTB9 zinc finger and BTB domain containing 9 737633,1580863 15489334,14702039,12477932 737633 221504 NM_152735,AL662799,BX088650,CH471081,AK122644,BC014978,BC048321,BX488390,CR605806 NP_689948,CAM26308,EAX03739,AAH14978,Q96C00 Hs.591805 MGC23166 protein-coding 1602996 ZC3H10 zinc finger CCCH-type containing 10 16713569,16189514,15489334,14702039,12477932 84872 NM_032786,AC034102,CH471054,AK027357,BC018708,CR613256 NP_116175,EAW96888,EAW96889,BAB55059,AAH18708,Q96K80 Hs.632706 FLJ14451|ZC3HDC10 protein-coding 1605103 ZC3H11A zinc finger CCCH-type containing 11A 9734811,16189514,17081983,16964243,16565220,16344560,15489334,15302935,14702039,12477932,11181995 9877 NM_014827,AC114402,CH471067,AB014563,AK095858,AL049419,BC014268,BC038513,BC046137,BC048271,BX648271,BX649148,CA419266,CR627439,CR627446,DA800934 NP_055642,EAW91492,EAW91493,BAA31638,AAH14268,AAH46137,AAH48271,CAH10553,CAH10566,CAH10525,CAH10530,O75152 Hs.532399 DKFZp686D03108|DKFZp686F14109|DKFZp781G2455|KIAA0663|ZC3HDC11A protein-coding 1603332 ZC3H11B zinc finger CCCH-type containing 11B pseudogene 643136 XR_041769,XR_041768,XR_041770,XR_041766,XR_041765,XR_041767,XR_041764,XR_041763,AC096643,AL356364,CH471100,CR609066,CR615142 EAW93317 Hs.448347 ZC3HDC11B pseudo 1602205 ZC3H12A zinc finger CCCH-type containing 12A ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM] 18364357,18178554,16574901,16344560,14702039,12477932,16189514,15862967 80149 NM_025079,AL034379,AL449284,CH471059,AK026884,AK093343,AY920403,BC005001,CR457364,CR995909,DA601465 NP_079355,CAI20551,EAX07346,EAX07347,EAX07348,BAB15581,AAX14017,AAH05001,CAG33645,Q5VVK0,Q6I9Z1,Q9H5P1 Hs.656294 FLJ23231|MCPIP|MCPIP1|RP3-423B22.1|dJ423B22.1 protein-coding 1601698 ZC3H12B zinc finger CCCH-type containing 12B 18178554,16344560,15772651,14702039 340554 BX647241,CR595814,DA401831,DY655010,NM_001010888,AL050306,CH471132,Z83841,AK091685,AL712229,BX415643 CAI46044,Q5HYM0,NP_001010888,CAI42834,EAX05405,EAX05406 Hs.21249 CXorf32|MCPIP2 protein-coding 1602083 ZC3H12C zinc finger CCCH-type containing 12C 18178554,14702039,11214970 85463 NM_033390,AP000901,AP001889,AB051513,AB096241,AK095101,AL832893 NP_203748,BAB21817,Q9C0D7 Hs.376289 KIAA1726|MCPIP3 protein-coding 1345806 ZC3H12D zinc finger CCCH-type containing 12D 18178554,17210687,12477932 340152 NM_207360,AL031133,AK090441,AK127932,BC127762,BC157832 NP_997243,BAC03422,BAC87196,AAI27763,AAI57833,Q5THL6,Q6ZRW2,Q8NF40 Hs.632618 C6orf95|FLJ46041|MCPIP4|dJ281H8.1|p34 chromosome 6 open reading frame 95 protein-coding 1317090 ZC3H13 zinc finger CCCH-type containing 13 15302935,15146197,15144186,15057823,15009096,14702039,12477932,11230166,10048485,17081983,16964243 23091 AL157758,AL445232,CH471075,AB020660,AK001815,AK056422,AK074924,AK092988,AL136745,AL831833,AY283618,BC019000,BC032425,BC050658,BC062685,BC107864,CN262326,NM_015070 NP_055885,CAI10902,CAI10903,EAX08750,EAX08751,EAX08752,BAA74876,CAB66679,CAD38544,AAP37483,AAH19000,AAH32425,AAI07865,Q32Q34,Q5T200,Q5T9K0,Q6PJ96,AAI56056,AAI57033 Hs.136102 GDB:9954755 DKFZp434D1812|FLJ35669|KIAA0853 protein-coding 732811 ZC3H14 zinc finger CCCH-type containing 14 17630287,16189514,14702039,12477932,10508479 79882 AY578060,AY578061,AY578062,AY578063,BC011793,BC023641,BC027607,BC034274,BX248265,BX248281,BX248769,BX640716,BX640876,NM_207660,NM_024824,NM_207661,NM_207662,AL162171,CH471061,AF155107,AF474376,AK021868,AK090809,AL359625,AL834215 AAS90299,AAS90300,AAS90301,AAS90302,CAD38897,AAH11793,AAH23641,AAH27607,CAD62593,CAD62609,CAD66576,CAE45835,CAE45933,Q6PJT7,NP_997543,NP_079100,NP_997544,NP_997545,EAW81384,EAW81385,EAW81386,EAW81387,EAW81388,EAW81389,EAW81390,EAW81391,EAW81392,AAD42873,AAL83289,BAB13920 Hs.325846 FLJ11806|MGC26892|NY-REN-37|UKp68 nuclear protein ukp68 protein-coding 1601751 ZC3H15 zinc finger CCCH-type containing 15 14702039,12477932,10880228 55854 NM_018471,AC018867,CH471058,AF109366,AF147724,AF161421,AF220184,AF289586,AK001901,AL040058,BC012336,BC021102,CR601058,CR601257,CR618848,CR622467 NP_060941,AAX88885,EAX10935,EAX10936,AAQ13514,AAF28981,AAF67649,AAL55770,BAA91968,AAH21102,Q8WU90,ABW03804 Hs.709329 HT010|LEREPO4|MSTP012 protein-coding 1602304 ZC3H18 zinc finger CCCH-type containing 18 17579712,15302935,14702039,12477932,9373149,8125298 124245 NM_144604,AC116552,CH471184,AK026317,AK056632,AK091849,AK093394,AK122593,AK225807,BC001584,BC050463,CR601060 NP_653205,EAW66799,EAW66800,EAW66801,EAW66802,EAW66803,EAW66804,EAW66805,BAB71237,BAC56934,AAH01584,AAH50463,Q86VM9,Q86YU5 Hs.93670 FLJ22664|FLJ34530|FLJ36075|NHN1 protein-coding 1316375 ZC3H3 zinc finger CCCH-type containing 3 737633 15489334,12477932,8590280 737633 23144 NM_015117,AC067930,AC105118,CH471162,AA806585,BC034435,BC038670,BM148116,D63484 NP_055932,EAW82249,AAH34435,AAH38670,BAA09771,Q8IXZ2 Hs.521915 KIAA0150|ZC3HDC3 protein-coding 1316321 ZC3H4 zinc finger CCCH-type containing 4 17081983,16964243,15302935,15146197,14702039,12168954,10470851 23211 NM_015168,AC008755,AB028987,AK074282,AK125279,AL050155,AW603637,CN300565 NP_055983,BAA83016,CAB43296,Q9UPT8 Hs.104661 GDB:9955388 C19orf7|KIAA1064 protein-coding 1322317 ZC3H6 zinc finger CCCH-type containing 6 8889548,16344560,15815621,14702039,12477932 376940 NM_198581,AC115115,AB111887,AK123404,AK127776,AK131416,AL831901,BC155540,BC167154,BM683817,BX649154,DA334613 NP_940983,BAC98375,BAC85608,BAC87128,BAD18563,AAI55541,AAI67154,P61129,Q6ZN12,Q6ZW96 Hs.190477 FLJ16526|FLJ41410|FLJ45877|KIAA2035|ZC3HDC6 protein-coding 1322571 ZC3H7A zinc finger CCCH-type containing 7A 737633,1580863 17081983,15489334,14702039,12477932,11042152 737633 29066 NM_014153,AC007613,CH471112,AF161540,AK000325,AK000889,AK001869,AK026827,AK026956,AK091803,AY163807,BC012575,BC036857,BC046363 NP_054872,EAW85138,EAW85139,EAW85140,AAF29027,BAA91087,BAA91408,BAA91952,AAO06906,AAH12575,AAH36857,AAH46363,Q8IWJ6,Q8IWR0 Hs.371856 FLJ10027|FLJ20318|HSPC055|ZC3H7|ZC3HDC7 protein-coding 1601882 ZC3H7B zinc finger CCCH-type containing 7B This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. 15047801,16713569,15592455,15489334,14702039,12477932,11230166,10591208,10470851,9373149,8125298 23264 BC047002,BC056860,BC098378,BC152558,CR626766,AL035659,CH471095,AB028954,AF188530,AK023849,AK225891,AL136802,BC004857,BC024313,NM_017590 AAI52559,Q9BSS8,Q9UGR2,NP_060060,CAI23515,EAW60425,EAW60426,EAW60427,EAW60428,EAW60429,BAA82983,AAF05541,BAB14701,AAH04857,AAH24313 Hs.592188 DKFZp434K0920|FLJ13787|KIAA1031|RoXaN protein-coding 1321369 ZC3H8 zinc finger CCCH-type containing 8 737633,1580863 15489334,12477932 737633 84524 NM_032494,AC092645,AC115115,CH471245,AF334161,BC032001,CR590012 NP_115883,AAY14855,AAY24050,EAW52103,AAK13496,AAH32001,Q53QC9,Q53RD8,Q8N5P1 Hs.418416 Fliz1|ZC3HDC8 protein-coding 736106 ZC3HAV1 zinc finger CCCH-type, antiviral 1 This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. 18225958,17928353,17081983,16964243,15489334,15302935,14702039,14557641,12851707,12690205,12477932,12215647,11483580 56829 NM_020119,NM_024625,AC018644,AC083868,CH236950,CH471070,AF138863,AK023350,AK055851,AK098308,AK292811,BC002935,BC025308,BC027462,BC033105,BC038809,BC040956,BX571742,BX647138,BX647974 NP_064504,NP_078901,EAL24040,EAL24041,EAW83902,EAW83903,EAW83904,EAW83905,AAF61195,BAB14537,BAB71028,BAF85500,AAH02935,AAH25308,AAH27462,AAH33105,AAH40956,CAE11868,Q05DV5,Q7Z2W4 Hs.133512 DKFZp686F2052|DKFZp686H1869|DKFZp686O19171|FLB6421|FLJ13288|MGC48898|ZAP|ZC3H2|ZC3HDC2 ccch-type zinc finger antiviral protein (zap) protein-coding 1601938 ZC3HAV1L zinc finger CCCH-type, antiviral 1-like 12477932 92092 NM_080660,AC083868,CH236950,CH471070,BC008842,BC020784 NP_542391,EAW83900,AAH08842,AAH20784,Q96H79 Hs.512833,Hs.659143 C7orf39|MGC14289 protein-coding 1347342 ZC3HC1 zinc finger, C3HC-type containing 1 737633 16105984,17081983,16964243,16381901,16009132,15489336,15489334,14702039,12853948,12748172,12477932,11076863,11042152,10737800 737633 51530 NM_016478,AC073320,AC087071,CH236950,CH471070,AF151050,AJ537494,AK001317,AK022373,BC000190,BC011551,BC028917,BF745935,BX490781,CR603577,CR607048,CR617545,CR618908 CAL38293,NP_057562,AAS07546,AAS07547,EAL24097,EAW83738,EAW83739,EAW83740,EAW83741,EAW83742,EAW83743,AAF36136,CAD61161,BAA91619,BAB14024,AAH00190,AAH11551,AAH28917,Q0JT71,Q86WB0,Q9BWJ8 Hs.194157 1110054L24Rik|HSPC216|NIPA zinc finger, c3hc type 1 protein-coding 1317755 ZCCHC10 zinc finger, CCHC domain containing 10 737633,1580863 16189514,15489334,14702039,12477932 737633 54819 NM_017665,AC113410,CH471062,AF086446,AK000101,AK122970,BC005211,BC015986,BC022443,CR598591 NP_060135,EAW62296,EAW62297,EAW62298,EAW62299,EAW62300,BAA90946,AAH05211,AAH22443,Q8TBK6 Hs.29700 FLJ20094 protein-coding 1320865 ZCCHC11 zinc finger, CCHC domain containing 11 12477932,12239557,8724849,14702039,16643855,16710414,15489334 23318 NM_001009881,NM_015269,NM_001009882,AL138849,AL591167,CH471059,AK025698,AK095733,BC012047,BC018753,BC035820,BC048301,BC131734,BX439159,BX648248,BX648783,CR604717,CR616727,D83776 NP_001009881,NP_056084,NP_001009882,CAI23476,CAI23477,CAI23478,EAX06778,EAX06779,EAX06780,AAH48301,AAI31735,BAA12105,Q5TAX2,Q5TAX3 Hs.655407 PAPD3 protein-coding 1342670 ZCCHC12 zinc finger, CCHC domain containing 12 737633 18160706,16189514,15489334,14702039,12477932 737633 170261 AK122676,BC018066,BC031241,BC033958,BC036572,BC057841,CR594993,NM_173798,AC006965,CH471161 AAH31241,AAH36572,AAH57841,Q6PEW1,NP_776159,EAW89892 Hs.21417 FLJ16123|SIZN|SIZN1 protein-coding 1346047 ZCCHC13 zinc finger, CCHC domain containing 13 1580863 16713569,15489334,12477932 389874 NM_203303,AC004386,CH471104,BC021176,BX109166 NP_976048,EAW98646,EAW98647,AAH21176,Q8WW36,ABZ92476 Hs.157231 Cnbp2|ZNF9L protein-coding 1349569 ZCCHC14 zinc finger, CCHC domain containing 14 737633,1580863 16344560,16189514,15146197,12477932,12168954,9628581 737633 23174 NM_015144,AC010531,AC092720,AC105429,CH471114,AB011151,AB030243,AK289682,AL117532,BC028304,BC038944,BC101478,CN352228,DB038312 NP_055959,EAW95388,EAW95389,EAW95390,EAW95391,BAA25505,BAB83129,BAF82371,CAB55981,AAH28304,AAI01479,Q3MJD8,Q8WYQ9,Q96HZ8 Hs.156231 BDG-29|BDG29|MGC126527|MGC14139 protein-coding 1603494 ZCCHC16 zinc finger, CCHC domain containing 16 16093683,15716091,14702039 340595 NM_001004308,AL031176,AL031223,AL031388,AL392112,AL929583,BX088563,BX119929,AK128465 NP_001004308,BAC87453,Q6ZR62 Hs.368140 FLJ46608|Mar4|Mart4 protein-coding 1604815 ZCCHC17 zinc finger, CCHC domain containing 17 16710414,16189514,15489334,14702039,12893261,12477932,12202495,11042152 51538 NM_016505,AL451070,CH471059,AF151077,AF151085,AF247661,AK001929,AK022506,AK024049,BC000685,BC007446,BC050609,CR592026,CR594706,CR599294,CR602299,CR609881,CR614242,CR626544 NP_057589,CAH71849,EAX07620,EAX07621,EAX07622,EAX07623,EAX07624,EAX07625,AAF36163,AAF36171,AAF72518,BAA91984,BAB14066,BAB14799,AAH00685,AAH07446,AAH50609,Q9NP64,ABM84172,ABM87574 Hs.524094 HSPC251|PS1D|RP11-266K22.1|pNO40 protein-coding 2291777 ZCCHC18 zinc finger, CCHC domain containing 18 pseudogene 644353 AF086548,XR_016527,XR_039901,XR_018173 Hs.648338 Sizn2 pseudo 1343061 ZCCHC2 zinc finger, CCHC domain containing 2 1580863 11256614,17081983,16381901,15489336,14702039,12975309,12477932,11230166,11214970,11076863,10737800,8889548 54877 NM_017742,AC064801,CH471096,AA903206,AB051531,AK000288,AK098132,BC006340,BI023990,BU675299,BX485381,CD365705,DN997998 NP_060212,EAW63126,EAW63127,EAW63128,BAB21835,BAA91057,AAH06340,Q0JT13,Q9BRD4,Q9C0B9,CAL38351 Hs.114191,Hs.699275 DKFZp451A185|FLJ20281|KIAA1744|MGC13269 protein-coding 1352502 ZCCHC3 zinc finger, CCHC domain containing 3 1580863 15592455,15489334,12477932,11780052 85364 NM_033089,AL034548,CH471133,AK025768,BC020460,BC036469,BC069238,BC107584,CR596693 NP_149080,CAB81631,EAX10684,AAH69238,AAI07585,Q3B7J3,Q9NUD5 Hs.28608,Hs.603608 C20orf99|MGC104290 protein-coding 1322864 ZCCHC4 zinc finger, CCHC domain containing 4 1580863 17081983,15489334,15225602,14702039,12477932,11042152 29063 NM_024936,AC108218,CH471069,AF161537,AK026677,AY629351,BC016914,BC157834,BG719159,CR610354,CR619058 NP_079212,EAW92837,AAF29024,BAB15524,AAV41218,AAH16914,AAI57835,Q9H5U6,Q9NZY3 Hs.278945 HSPC052|MGC21108 protein-coding 1346934 ZCCHC5 zinc finger, CCHC domain containing 5 1580863 16093683,15772651,15716091,14702039 203430 NM_152694,AL662885,CH471104,AK096184,BC136548,BC136549 NP_689907,CAI41449,EAW98597,BAC04719,AAI36549,AAI36550,Q8N8U3 Hs.134873 FLJ38865|Mar3|Mart3|ZHC5 protein-coding 1344359 ZCCHC6 zinc finger, CCHC domain containing 6 737633 16381901,15489336,15489334,15164053,14702039,12477932,11230166,11214970,11076863 737633 79670 NM_024617,AL137849,AL353678,CH471089,AB051498,AK023471,AK055546,AK055948,AK058021,AL832026,AL832193,AL832965,AL832988,BC015897,BC016387,BC032456,BX641077,BC111003,CR616935,CR620723,CR933643,CR933644,CR936608 NP_078893,CAI14918,CAI14919,CAI14920,CAI14921,CAH71514,CAH71515,CAH71516,CAH71517,CAH71518,CAH71519,EAW62714,EAW62715,EAW62716,EAW62717,EAW62718,BAB21802,BAB14584,BAB70951,BAB71052,CAH56219,CAH56214,AAH16387,AAH32456,CAE46038,CAI45944,CAI45945,CAI56753,Q0JSW4,Q0JUB2,Q5VYS8,Q5VYS9,Q5VYT0,Q96KX5,CAL37899,CAL38400 Hs.655162 DKFZp666B142|DKFZp686C11112|DKFZp686F119|DKFZp686I1269|PAPD6 protein-coding 1321384 ZCCHC7 zinc finger, CCHC domain containing 7 737633,1580863 15489334,15342556,15231748,15164053,14702039,12477932 737633 84186 NM_032226,AL158155,AL358118,AL512604,CH471071,AF161349,AI458621,AK026264,AK074608,BC005990,BC022434,BC034022,BC036940,BP246540,CR592693,CR611439,CR621518 NP_115602,CAI13846,CAI12725,CAI12726,EAW58288,EAW58289,EAW58290,EAW58291,AAF28909,BAB15418,BAC11087,AAH05990,AAH22434,AAH36940,Q05DN1,Q8N3Z6 Hs.654700 AIR1|FLJ22611|HSPC086|RP11-397D12.1 protein-coding 1320291 ZCCHC8 zinc finger, CCHC domain containing 8 737633 17525332,16964243,16263084,15489334,15302935,15231748,14702039,12477932,11991638 737633 55596 AC127002,CH471054,AA447641,AK026831,AK027702,AK074638,AL157433,BC017704,BC065918,NM_017612 EAW98325,EAW98326,BAB55308,BAC11105,CAB75657,AAH17704,AAH65918,Q6NZY4,NP_060082 Hs.37706 DKFZp434E2220 protein-coding 1316648 ZCCHC9 zinc finger, CCHC domain containing 9 737633,1580863 15635413,15489334,12477932 737633 84240 NM_032280,AC008411,CH471084,AL512712,BC014841,BC022799,BC032736,CR590561,CR605795,CR613153,CR621689,CR623960 NP_115656,EAW95870,EAW95871,EAW95872,EAW95873,CAC21654,AAH14841,AAH32736,Q05DH8,Q8N567 Hs.15536 DKFZp761J139 protein-coding 1604568 ZCRB1 zinc finger CCHC-type and RNA binding motif 1 Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. 15146077,17081983,16959469,15489334,12477932 85437 BC022543,BI666919,BK005200,AC079684,CH471111,AB062361,BC005099,BC010177,NM_033114 AAH22543,DAA05498,Q05DR1,Q8TBF4,Q96TA6,ABM83017,ABM86210,NP_149105,EAW57842,EAW57843,EAW57844,BAB56132,AAH05099,AAH10177 Hs.496279 MADP-1|MADP1|MGC26805|RBM36|ZCCHC19 protein-coding 1313418 ZCWPW1 zinc finger, CW type with PWWP domain 1 1580863 15489334,14702039,14607086,12477932,11230166 55063 NM_017984,AC005071,AC092849,CH236956,CH471091,AK000919,AK093038,AL136735,BC002725 NP_060454,EAW76538,EAW76539,EAW76540,EAW76541,BAA91424,BAC04028,CAB66669,AAH02725,Q9H0M4 Hs.105191 DKFZp434N0510|FLJ10057|ZCW1 protein-coding 1347606 ZCWPW2 zinc finger, CW type with PWWP domain 2 14607086,12600744,12477932 152098 NM_001040432,AC093142,CH471055,AB087877,AJ519236,BC065764,BC094696 NP_001035522,EAW64399,BAC55088,CAD60297,AAH94696,Q504Y3 Hs.510635,Hs.539824,Hs.659030 ZCW2 protein-coding 1605970 ZDBF2 zinc finger, DBF-type containing 2 14702039,10997877 57683 NM_020923,AC017081,AB046791,AK024339,AK127271,AK130893 NP_065974,BAB13397,BAC86910,BAC85454,Q9HCK1 Hs.110489 FLJ45338|KIAA1571 protein-coding 1348828 ZDHHC1 zinc finger, DHHC-type containing 1 1580863 10395086,15489334,12477932 29800 NM_013304,AC009061,CH471092,BC021908,BC045169,U90653 NP_037436,EAW83132,EAW83133,AAH21908,AAB86591,Q8WTX9 Hs.624541,Hs.658333 GDB:11508160 C16orf1|HSU90653|ZNF377 protein-coding 1351702 ZDHHC10 zinc finger, DHHC domain containing 10 93950 GDB:11508162 1343630 ZDHHC11 zinc finger, DHHC-type containing 11 1580863 18025801,15489334,14702039,12975309,12477932 79844 NM_024786,AC010427,AC026740,AC122719,CH471304,AF267859,AK023215,AK024233,AY358673,BC032000,CR605165 NP_079062,EAW52307,AAG44728,BAB14468,AAQ89036,AAH32000,Q6UWR9,Q9H2I9,Q9H8X9 Hs.659832 GDB:11510294 FLJ13153|ZNF399 protein-coding 1602781 ZDHHC11B zinc finger, DHHC-type containing 11B 653082 XM_926053,XM_930931 XP_931146,XP_936024 Hs.654874 protein-coding 1315298 ZDHHC12 zinc finger, DHHC-type containing 12 1580863 16303743,15489334,15164053,14702039,12477932 84885 BU506687,NM_032799,AL441992,CH471090,AK027430,AK075332,AK092843,BC009280,BC048251 Q5T269,Q96GR4,NP_116188,CAI15402,CAI15403,CAI15404,CAI15405,CAI15406,EAW87826,EAW87827,EAW87828,BAB55104,BAC11553,AAH09280,AAH48251 Hs.133122 GDB:11510296 FLJ14524|MGC13153|MGC54050|ZNF400 zinc finger, dhhc domain containing 12 protein-coding 1320234 ZDHHC13 zinc finger, DHHC-type containing 13 1580863 12761501,15489334,14702039,12477932,12393793 54503 NM_019028,NM_001001483,AC009652,CH471064,AB024495,AB097014,AB097027,AK001714,AK001831,AK123539,AK291348,AL833714,BC036020,BC050690,BC056152,BX648156 NP_061901,NP_001001483,EAW68357,EAW68358,BAC22090,BAC77367,BAC77380,BAA91856,BAA91930,BAF84037,AAH36020,AAH50690,AAH56152,Q8IUH4 Hs.188569 FLJ10852|FLJ10941|HIP14L|HIP3RP|MGC64994 protein-coding 1352800 ZDHHC14 zinc finger, DHHC-type containing 14 1580863 15489334,14702039,14574404,12477932 79683 NM_024630,NM_153746,AL117344,AL133510,AL450328,CH471051,AF542388,AF542389,AJ420552,AK024637,AK092380,AK124573,AK128773,BC008978,BC029881,BC056399,BC125072,BC125073 NP_078906,NP_714968,CAI20404,CAI42852,CAI42853,CAI42854,CAI42855,CAI39698,CAI39699,CAI39700,CAI39701,EAW47670,EAW47671,EAW47672,EAW47673,EAW47674,EAW47675,AAN47142,AAN47143,BAB14941,AAH56399,AAI25073,AAI25074,Q5JS05,Q8IZN3 Hs.187459 FLJ20984|NEW1CP zinc finger, dhhc domain containing 14 protein-coding 1345155 ZDHHC15 zinc finger, DHHC-type containing 15 1580863 15915161,15772651,15489334,14702039,12975309,12477932 158866 NM_144969,AC020717,AL137013,AL391055,CH471104,AK056374,AK122885,AK128587,AY358786,BC103980,BC103981,BC103982 NP_659406,EAW98627,EAW98628,EAW98629,BAB71168,AAQ89146,AAI03981,AAI03982,AAI03983,Q96MV8 Hs.253211 FLJ31812|MGC119974|MGC119975|MGC119976|MRX91 zinc finger, dhhc domain containing 15 protein-coding 1604262 ZDHHC16 zinc finger, DHHC-type containing 16 17123647,15489334,15164054,12975309,12477932,12021275 84287 NM_032327,NM_198043,NM_198044,NM_198045,NM_198046,AL355490,CH471066,AF258563,AJ294945,AK074427,AY359080,BC004535,BC008074,BC011749,BC012830,BC033157,BC050652,BU500243,CR593129,CR600260,CR601357,CR606870,CR607449,CR610028,CR613335,CR614608,CR615307,CR617161,CR620000,CR620516,CR620755,CR620880 NP_115703,NP_932160,NP_932161,NP_932162,NP_932163,CAI40783,CAI40784,CAI40785,CAI40786,CAI40787,CAI40788,CAI40789,CAI40790,CAI40791,EAW49929,EAW49930,EAW49931,EAW49932,EAW49933,EAW49934,EAW49935,AAG23766,CAC82556,AAQ89439,AAH04535,AAH08074,AAH11749,AAH12830,AAH33157,Q5JTG4,Q5JTH2,Q969W1 Hs.76662 APH2|MGC2993 protein-coding 1351838 ZDHHC17 zinc finger, DHHC-type containing 17 15603740,12761501,16847693,16344560,15489887,15489334,12477932,12393793,10231032,9700202 23390 NM_015336,AC093014,AC124784,CH471054,AB023163,AB024494,AB097013,AB097035,AF049612,AF161412,AK292866,BC030990,BC050324,DA227374 NP_056151,EAW97331,EAW97332,EAW97333,EAW97334,EAW97335,BAA76790,BAC22089,BAC77366,BAC77388,AAC26848,AAF28972,BAF85555,AAH30990,AAH50324,Q8IUH5 Hs.4014 HIP14|HIP3|HSPC294|HYPH|KIAA0946 protein-coding 1319625 ZDHHC18 zinc finger, DHHC-type containing 18 1580863 16710414,15489334,14702039,12477932 84243 NM_032283,AL034380,CH471059,AK056427,AL512765,BC066776,CR600621,CR614359 NP_115659,CAI21624,EAX07788,EAX07789,CAC21682,AAH66776,Q9NUE0 Hs.523710 DKFZp667O2416 zinc finger, dhhc domain containing 18 protein-coding 1346417 ZDHHC19 zinc finger, DHHC-type containing 19 1580863 15489334,14702039,12477932 131540 NM_001039617,AC069257,CH471191,AK122907,BC022078,BC034801,BG721568,BU929650 NP_001034706,EAW53666,EAW53667,EAW53668,EAW53669,AAH22078,AAH34801,Q8N4B2,Q8WVZ1 Hs.111591 MGC33345 protein-coding 736613 ZDHHC2 zinc finger, DHHC-type containing 2 1580863 15489334,14702039,12477932,12021275,10918388 51201 NM_016353,AC079193,AC091050,CH471080,AB023584,AK001608,BC039253,BC050272,CR591508,CR598335,CR626790 NP_057437,EAW63824,EAW63825,BAA88923,AAH39253,AAH50272,Q9UIJ5 Hs.443852 GDB:11508164 ZNF372 zinc finger, dhhc domain containing 2 protein-coding 1606124 ZDHHC20 zinc finger, DHHC-type containing 20 15489334,15057823,14702039,12477932 253832 NM_153251,AL136219,CH471075,AK090979,AK098818,AL833626,BC034944,BC036691,BC037336,BC050367,BC067898,BC110517 NP_694983,CAH70596,EAX08307,EAX08308,EAX08309,EAX08310,BAC05422,AAH34944,AAH50367,AAH67898,AAI10518,Q2TB82,Q5W0Z9,Q8N1G7 Hs.564611,Hs.693749 FLJ25952|MGC126005 protein-coding 1313969 ZDHHC21 zinc finger, DHHC-type containing 21 15489334,15164053,14702039,12477932 340481 NM_178566,AL390732,CH471071,AF161360,AK026322,AK096860,AK127313,AK292960,BC042558 NP_848661,EAW58692,EAW58693,AAF28920,BAF85649,AAH42558,Q8IVQ6,Q9P0D9 Hs.649522 protein-coding 1318218 ZDHHC22 zinc finger, DHHC-type containing 22 1580863 16344560,15489334,14702039,12477932 283576 NM_174976,AC007375,AK095612,BC035881,BC117676,DA496626 NP_777636,BAC04590,AAI17677,Q8N966 Hs.525485 C14orf59 zinc finger, dhhc domain containing 22 protein-coding 1345232 ZDHHC23 zinc finger, DHHC-type containing 23 737633,1580863 15489334,15105416,14702039,12477932,9110174,8619474 737633 254887 NM_173570,AC128687,CH471052,AF131818,AK022842,AK127025,AK127260,AK127996,BC035230 NP_775841,EAW79616,EAW79617,EAW79618,EAW79619,EAW79620,BAC86903,AAH35230,Q6ZSP5,Q8IYP9 Hs.21902 MGC42530|NIDD zinc finger, dhhc domain containing 23 protein-coding 1602172 ZDHHC24 zinc finger, DHHC-type containing 24 15489334,12975309,12477932 254359 NM_207340,AP002748,CH471076,AY358448,BC005015,BC057833,CR616301,CR623920 NP_997223,EAW74545,AAQ88813,AAH05015,AAH57833,Q6UX98 Hs.659933 protein-coding 1319160 ZDHHC3 zinc finger, DHHC-type containing 3 1580863 16713569,16189514,15489334,15231748,12477932,12163046,9110174,8619474 51304 NM_016598,AC098649,AC104165,CH471055,AF052182,AF247703,AF441791,AY605661,BC015467,BC020350,BC020424,BC038436,CR597069,CR625011 NP_057682,EAW64729,EAW64730,AAF63570,AAL34547,AAV83779,AAH15467,Q9NYG2 Hs.61430 GDB:11508165 GODZ|ZNF373 protein-coding 1318128 ZDHHC4 zinc finger, DHHC-type containing 4 1580863 12975309,12690205,12477932,11230166,9373149,8125298,15527767,15489334,14702039 55146 NM_018106,AC079742,CH236963,CH878731,CS072288,AF201931,AK001341,AK223532,AL136674,AY359090,BC001239,CR533511,CR591069,CR609834,CR611955,CR616747,CR618376,CR624979 NP_060576,EAL23725,EAW55023,EAW55024,EAW55025,EAW55026,EAW55027,CAI93426,AAF86867,BAA91636,BAD97252,CAB66609,AAQ89448,AAH01239,CAG38542,Q9NPG8,ABM82742,ABM85929 Hs.5268 GDB:11508167 FLJ10479|ZNF374 zinc finger, dhhc domain containing 4 protein-coding 1314627 ZDHHC5 zinc finger, DHHC-type containing 5 1580863 17081983,15489334,14702039,12477932,11214970 25921 NM_015457,AP000662,CH471076,AB051535,AK023130,AK172807,AL117662,AY894889,BC026967,BX647707,CB989150,CR614518 NP_056272,EAW73771,EAW73772,EAW73773,BAB21839,BAB14420,BAD18778,CAB56033,AAX73368,AAH26967,Q2TGF0,Q9C0B5,ABM83376,ABM86588 Hs.27239 GDB:11508169 DKFZP586K0524|KIAA1748|ZNF375 protein-coding 1312223 ZDHHC6 zinc finger, DHHC-type containing 6 1580863 15489334,14702039,12477932,9373149 64429 NM_022494,AC022018,CH471066,AF267740,AK025605,AK026369,AK223086,BC007213,BC017434,BX647270 NP_071939,EAW49526,EAW49527,EAW49528,EAW49529,EAW49530,EAW49531,AAL56663,BAB15187,BAB15462,BAD96806,AAH07213,AAH17434,Q9H6R6 Hs.196990 GDB:11510298 FLJ21952|ZNF376 protein-coding 1351877 ZDHHC7 zinc finger, DHHC-type containing 7 1580863 14667819,15489334,14702039,12477932,9373149,8125298 55625 NM_017740,AC092341,CH471114,AK000286,AK001654,AK023428,AK130081,AK225768,BC017702,BC018772,CR603994 NP_060210,EAW95463,EAW95464,EAW95465,BAA91055,BAA91814,AAH17702,AAH18772,Q9NXF8,ABM82894,ABM86083 Hs.592065 GDB:11508171 FLJ10792|FLJ20279|ZNF370 zinc finger, dhhc domain containing 7 protein-coding 1318899 ZDHHC8 zinc finger, DHHC-type containing 8 1331525,1580863 18075473,17728672,16860541,16225675,16150541,15992527,15631889,15489334,15489219,15461802,15184899,14702039,12477932,10591208,10574462 1331525 29801 AC006547,CH471176,AB033118,AK131238,AY894890,BC009442,BC015243,BC053544,CR456357,NM_013373 NP_037505,EAX02982,EAX02983,EAX02984,BAA86606,BAD18420,AAX73369,AAH09442,AAH53544,CAG30243,Q2TGE9,Q96GI9,Q9ULC8,CAK54498,CAK54797 Hs.63128 GDB:11508173 ZDHHCL1|ZNF378 protein-coding 1604989 ZDHHC8P zinc finger, DHHC-type containing 8 pseudogene 16344560,15146197,14702039,12477932,8889549 150244 NR_003950,AP000344,CH471095,AA126252,AK056130,AK092581,BC063382,BC105936,BC105937,BC107600,CK902416,CN269046,DA485168 EAW59574,EAW59575,EAW59576,EAW59577,BAB71099,BAC03919,AAI05937,AAI05938,AAI07601,Q3KR32,Q96N15 Hs.386693 FLJ31568|MGC126046|MGC126047 pseudo 1348132 ZDHHC9 zinc finger, DHHC-type containing 9 1580863 17519897,17436253,16000296,15772651,15489334,15203218,14702039,12975309,12477932,10810093 51114 NM_016032,NM_001008222,AL034405,AL359542,CH471107,AB209807,AF151847,AK001112,AK001424,AK001524,AK096967,AL161962,AY358558,BC000035,BC003128,BC006200,BC012826,BM272779,BM909699,CD627424,CR591887 NP_057116,NP_001008223,CAI42905,CAI42907,CAI42069,CAI42071,EAX11822,EAX11823,EAX11824,EAX11825,BAD93044,AAD34084,BAA91683,BAA91740,CAB82308,AAQ88922,AAH00035,AAH03128,AAH06200,AAH12826,Q5JSW3,Q9Y397 Hs.193566 GDB:11508175 CGI-89|CXorf11|DHHC9|ZDHHC10|ZNF379|ZNF380 zinc finger, dhhc domain containing 9 protein-coding 1299953 ZEB1 zinc finger E-box binding homeobox 1 TCF8 encodes a zinc finger transcription factor that represses T-lymphocyte-specific IL2 gene (MIM 147680) expression by binding to a negative regulatory domain 100 nucleotides 5-prime of the IL2 transcription start site (Williams et al., 1991 [PubMed 1840704]).[supplied by OMIM] 1580863 8138542,1840704,18321996,18199550,18172091,17936922,17935237,17610840,17486063,17437275,17391671,17081983,16952552,16804902,16252232,16203744,16087177,16061479,15384081,15302935,14965470,14702039,12743039,12743038,12477932,12163027,12161443,11760832,11275565,10359772,9724649,9418848,7935395,1427828,11810028,15674322 6935 NM_030751,AL117340,AL158080,AL161935,AL355148,CH471072,AK091478,AL831979,BC009572,BC065705,BC107781,BC112392,BX647794,M81699,U12170 NP_110378,CAI12549,CAI12550,CAI12551,CAI17319,CAI17320,CAI17321,CAH74131,CAH74132,CAI15107,CAI15108,CAI15109,EAW85989,EAW85990,BAC03673,AAH09572,AAI07782,AAI12393,AAA20602,P37275,Q13088,Q2KJ05,Q32Q63,Q5T967,Q5T968,Q5VZ84,Q8NB68 Hs.124503 GDB:128997 AREB6|BZP|DELTA-EF1|MGC133261|NIL-2-A|NIL-2A|TCF8|ZEB|ZFHEP|ZFHX1A transcription factor 8 (represses interleukin 2 expression) 1643505,1643515 BW286_H,BW287_H protein-coding 1316368 ZEB2 zinc finger E-box binding homeobox 2 The SMADIP1 gene (also known as SIP1) is a member of the delta-EF1 (TCF8; MIM 189909)/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SMADIP1 interacts with receptor-mediated, activated full-length SMADs (see MIM 605568) (Verschueren et al., 1999 [PubMed 10400677]).[supplied by OMIM] 1599885,1580863 11477103,11592033,11279515,9853615,18182442,17958891,17585049,17360662,16568083,16273209,16061479,16053902,15742334,15489334,15384097,15231748,15026811,15006694,12920073,12746390,12743039,12743038,12477932,12451214,12175509,12161443,12149685,11891681,11595972,11448942,11430829,10400677,9628581,17203459,16688751 1599885 9839 AC009951,AC010130,AY029472,CH471058,AB011141,AB015341,AB056507,AB193095,AB193096,AI858477,AL118674,BC025696,BC025730,BC035706,BC037975,NM_014795,BC060819,BC127101,BC127102 NP_055610,AAX93269,AAX93276,AAK52081,EAX11575,EAX11576,EAX11577,BAA25495,BAA34798,BAB40819,BAD60927,BAD60928,AAH60819,AAI27102,AAI27103,O60315,Q53TD9,Q53TG0,Q60F94,Q60F95,Q6P9D2 Hs.34871 GDB:9958310 KIAA0569|SIP-1|SIP1|SMADIP1|ZFHX1B zinc finger homeobox 1b protein-coding 1321095 ZER1 zer-1 homolog (C. elegans) 737633 17304241,15489334,15164053,12477932,11719588 737633 10444 NM_006336,AL441992,CH471090,BC001447,BC033884,BC052563,CR605088,X99802 NP_006327,CAI15407,CAI15408,CAI15409,EAW87829,EAW87830,EAW87831,AAH33884,AAH52563,CAA68137,Q05BR7,Q7Z7L7 Hs.147950 C9orf60|Hzyg|RP11-545E17.4|ZYG|ZYG11BL chromosome 9 open reading frame 60 protein-coding 1605942 ZFAND1 zinc finger, AN1-type domain 1 15489334,14702039,12477932,9373149 79752 NM_024699,AC132219,CH471068,AK024069,AK225195,AL833030,BC022251,BC051857,BC056877,CR457323,CR593847,CR609195,CR625306 NP_078975,EAW87103,EAW87104,EAW87105,EAW87106,BAB14813,CAH56344,AAH22251,AAH51857,AAH56877,CAG33604,Q05BD2,Q8TCF1 Hs.655453 FLJ14007 protein-coding 1604554 ZFAND2A zinc finger, AN1-type domain 2A 15489334,12477932 90637 NM_182491,AC091729,CH236953,CH471144,AK027118,AK290170,BC016963,BC029558 NP_872297,EAL23939,EAW87196,EAW87197,BAF82859,AAH29558,Q8N6M9 Hs.648111 AIRAP protein-coding 1602437 ZFAND2B zinc finger, AN1-type domain 2B 16189514,15489334,14702039,12477932,2132133 130617 NM_138802,AC068946,CH471063,AK074571,AK091345,AK292622,BC018415,CR625904 NP_620157,EAW70690,EAW70691,EAW70692,EAW70693,BAC03642,BAF85311,AAH18415,Q8WV99 Hs.534540 protein-coding 1316115 ZFAND3 zinc finger, AN1-type domain 3 1580863 15489334,14702039,14574404,12477932,10366431,8703127 60685 NM_021943,AL121574,AL133377,AL589655,CH471081,AK023284,AL137302,BC031481,CR600723,CR617176 NP_068762,CAI42532,CAI13989,CAI13991,EAX03955,EAX03956,BAB14508,AAH31481,Q9H8U3,ABM82059,ABM85238 Hs.36959 GDB:11508008 FLJ13222|TEX27 testis expressed sequence 27 protein-coding 1349305 ZFAND5 zinc finger, AN1-type domain 5 1580863 16194934,15489334,15164053,14754897,12477932,9758550,16189514 7763 NM_001102421,NM_006007,NM_001102420,AF062072,AL135924,CH471089,AA837106,AF062346,AF062347,AI379933,AK025782,AK290849,AW161082,BC011018,BC027707,BC073131,BG772839,BX489434,BX648551,BX649046,CR612072,CR619628,CR624137,CR624990 NP_001095891,NP_005998,NP_001095890,AAC61801,CAD13440,CAI16263,EAW62533,EAW62534,EAW62535,EAW62536,EAW62537,AAC42601,AAC42602,BAF83538,AAH11018,AAH27707,AAH73131,O76080,ABZ92260 Hs.406096 ZA20D2|ZFAND5A|ZNF216 protein-coding 1345898 ZFAND6 zinc finger, AN1-type domain 6 737633 16189514,15698998,15489334,12477932,11256614,11230166,11054541 737633 54469 NM_019006,AC092701,CH471136,AF061739,AF261138,AJ251095,AL136598,BC005283,CR533476,CR606269,CR615027,CR621158,CR622869,CR623709 NP_061879,EAW99122,EAW99123,EAW99124,EAW99125,EAW99126,EAW99127,AAD17528,AAG44674,CAC14876,CAB66533,AAH05283,CAG38507,Q6FIF0,ABZ92339 Hs.654787 AWP1|ZA20D3|ZFAND5B protein-coding 1322045 ZFAT zinc finger and AT hook domain containing 1580863 15489334,15294872,14702039,12477932,10819331 57623 NM_001029939,AC015599,AC087045,AC135075,CH471060,AB040918,AB167738,AB167739,AB167740,AB167741,AK094089,AL832066,BC012989,BC025423,BC039059,BC046180,BC070097,BC098405,BC101766,BC101768,BI964061,CR609716,NM_020863 NP_065914,NP_001025110,EAW92179,BAA96009,BAD12567,BAD12568,BAD12569,BAD12570,AAH12989,AAH25423,AAH46180,AAH98405,AAI01767,AAI01769,Q4KMQ4,Q6PJQ2,Q75PJ6,Q9P243 Hs.446172 AITD3|KIAA1485|MGC126815|MGC126817|ZFAT1|ZNF406 ZFAT zinc finger 1|zinc finger protein 406 protein-coding 2290026 ZFATAS ZFAT antisense transcript (non-protein coding) 15294872 594840 NR_002438,AC015599,AB167742 Hs.626298 SAS-ZFAT miscrna 1351762 ZFHX2 zinc finger homeobox 2 1580863 11214970,10737800 85446 XM_001720095,XM_001714980,XM_001722719,AL132855,AL135999,CH471078,AB051549,BI008981 XP_001720147,XP_001715032,XP_001722771,EAW66142,EAW66143,EAW66144,EAW66145,BAB21853,Q9C0A1 Hs.525247 KIAA1762 protein-coding 1319399 ZFHX3 zinc finger homeobox 3 1580863 10855793,10493829,10318867,9171351,8666409,7592926,1719379,17671116,17330845,17081983,16932943,16637072,16189514,15750593,15671546,15616553,14715251,14654895,12477932 463 NM_006885,AC002044,AC004943,AC132068,AY424268,CH471166,BC029653,D10250,L32832 NP_008816,AAC31674,AAC79153,AAR26475,EAW59168,EAW59169,EAW59170,AAH29653,BAA01095,AAC14462,Q15911,Q6TCJ2,Q8N2Y6 Hs.652666 GDB:392090 ATBF1|ATBT protein-coding 1346362 ZFHX4 zinc finger homeobox 4 1580863 16946494,14702039,12477932,11935336,10873665 79776 NM_024721,AC011716,AC023200,AC087110,CH471068,AB083343,AF086273,AK024633,AK095274,AK131399,AK131408,AK131462,AY260762,BC047745,BC074736,BC085610,BX649074 NP_078997,EAW87049,EAW87050,EAW87051,BAE96598,BAB14939,BAD18546,BAD18555,BAD18607,AAP20225,AAH47745,AAH74736,AAH85610,Q5U3C1,Q6DK57,Q6ZMW8,Q6ZN29,Q86UP3,Q86WW5 Hs.458973 FLJ16514|FLJ20980|ZFH-4|ZFH4|ZHF4 protein-coding 1351790 ZFP1 zinc finger protein 1 homolog (mouse) 15489334,14702039,12477932,2574853 162239 NM_153688,AC009078,AC099508,CH471114,AK091562,AK094761,AK291372,AL038510,AL038511,AL538214,BC033774,BC064604,BC113863,BC114471,BC127184,BX647144 NP_710155,EAW95662,EAW95663,BAC03698,BAC04417,BAF84061,AAH33774,AAH64604,AAI13864,AAI14472,AAI27185,Q29RW8,Q6P2D0,Q8NB43,AAI60028 Hs.388813 FLJ34243|ZNF475 protein-coding 1343281 ZFP106 zinc finger protein 106 homolog (mouse) 17081983,15656981,15635413,15489334,15302935,15231748,14702039,12477932,12434312 64397 AC012651,AF209502,CH471125,AF205632,AK024726,AK055517,AK057410,AK091929,AK127741,AK226132,AL831983,AL832014,AL832352,AL832367,AL832455,AL833301,BC014922,BC029366,NM_022473,BC058023,BC070244,BC111396,BX648629,CR607013 NP_071918,AAL40184,EAW92551,EAW92552,EAW92553,EAW92554,AAG35666,BAB14976,BAB71475,CAD91134,CAD91147,CAD91149,CAD91157,CAD89926,CAD91142,AAH29366,AAH58023,AAH70244,AAI11397,Q05C49,Q0VGA6,Q86T35,Q9H2Y7,AAI56041 Hs.511143 DKFZp451A239|FLJ34610|FLJ45841|SH3BP3|ZNF474 protein-coding 1605971 ZFP14 zinc finger protein 14 homolog (mouse) 10997877 57677 BC152446,NM_020917,AC092296,AB046779,AK293103 AAI52447,Q9HCL3,NP_065968,BAB13385,BAF85792 Hs.35524 KIAA1559|ZNF531 protein-coding 1345499 ZFP161 zinc finger protein 161 homolog (mouse) 727770,1580863 8367294,9177479,17714511,16805315,15629158,15489334,14706637,12477932,10080939,10049742,9244432 727770 7541 NM_003409,AP001496,CH471113,CQ834630,CQ859724,BC057282,BC110519,D89859,Y12726 NP_003400,EAX01647,CAH05530,CAH25912,AAI10520,BAA20131,CAA73258,O43829,ABZ92244 Hs.592340 GDB:5195862 MGC126126|ZBTB14|ZF5|ZNF478 protein-coding 1604799 ZFP2 zinc finger protein 2 homolog (mouse) 12477932 80108 NM_030613,AC104117,AC126915,AK025281,AK131367,BC132779,BC132781,BC142989 NP_085116,BAB15104,BAD18518,AAI32780,AAI32782,AAI42990,Q6ZN57 Hs.654533 FLJ21628|ZNF751 protein-coding 1347669 ZFP28 zinc finger protein 28 homolog (mouse) 1580863 10718198,15489334,12477932,12127974 140612 NM_020828,AC005498,AC007228,CH471135,AB037852,AF226995,AF507045,AK289583,BC028416,BC099903,BC127002,BC127003,CR749659 NP_065879,AAC32423,AAD23606,EAW72463,EAW72464,EAW72465,BAA92669,AAK28320,AAM28892,BAF82272,AAH28416,AAH99903,AAI27003,AAI27004,CAH18453,O75261,Q68CX9,Q8NHU8,Q8NHY6,Q9UQD2 Hs.14794 GDB:11508919 DKFZp686K03205|KIAA1431|MGC104540|mkr5 protein-coding 1346211 ZFP3 zinc finger protein 3 homolog (mouse) 15342556,14702039 124961 NM_153018,AC012146,CH471108,AK055288,AK125731,BC142962,BP250703,BX647638,CR604942 NP_694563,EAW90362,BAB70898,BAC86263,AAI42963,Q6ZUG2,Q96NJ6,AAI43074,AAI43075 Hs.48832 GDB:120501 FLJ30726|ZNF752 protein-coding 1605092 ZFP30 zinc finger protein 30 homolog (mouse) 15489334,12477932,10231032,7849402 22835 NM_014898,AC022148,AC093227,CH471126,AB023178,BC041087,BC050542 NP_055713,EAW56743,EAW56744,EAW56745,BAA76805,AAH41087,Q9Y2G7,ABZ92306 Hs.116622 KIAA0961|ZNF745 protein-coding 737182 ZFP36 zinc finger protein 36, C3H type, homolog (mouse) 1580863 2204625,2062660,1699942,1,14679154,15766526,7768935,11782475,15231747,16364915,9703499,10751406,18367721,18250465,17893259,17855506,17606294,17599736,17546847,17517366,17369404,16935542,16820934,16614304,16596264,16546352,16262601,16189514,15778452,15535838,15504035,15489334,15280467,15187101,15187092,15170914,15117938,15067324,15014438,14766228,14688255,14604009,12823857,12754205,12751757,12748283,12705825,12646273,12639954,12578839,12578825,12515557,12477932,12440952,12115244,11886850,11748221,8478004,8422274 7538 CR604863,CR608862,CR609570,CR612171,CR615025,CR615152,CR617754,CR617965,CR618285,CR618597,CR619778,CR620077,CR620571,CR623140,CR623493,CR626033,CR626058,M63625,M92843,NM_003407,AC011500,AY771351,CH471126,M92844,BC009693,CR592848,CR597101,CR597168,CR597638,CR598791,CR601007,CR603935,CR604025,CR604446,CR604736 AAA61240,AAA58489,P26651,ABZ92243,NP_003398,AAV28731,EAW56885,EAW56886,AAC37600,AAH09693 Hs.534052,Hs.707878 GDB:126953 G0S24|GOS24|NUP475|RNF162A|TIS11|TTP zinc finger protein 36 protein-coding 732154 ZFP36L1 zinc finger protein 36, C3H type-like 1 This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. 1580863 15467755,16189514,8595910,15489334,15465005,14604009,12477932,8898945,8346037,8024689 677 NM_004926,AL132986,CH471061,BC018340,BT019468,CR592455,X79066,X79067,X99404 NP_004917,EAW80967,EAW80968,AAH18340,AAV38275,CAA55670,CAA67781,Q07352,ABM82275,ABM85455 Hs.85155 GDB:221586 BRF1|Berg36|ERF-1|ERF1|RNF162B|TIS11B|cMG1 protein-coding 1318953 ZFP36L2 zinc finger protein 36, C3H type-like 2 This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. 1580863 7835719,17172869,15489334,14981510,14604009,12477932,8889549,8545129 678 NM_006887,AC010883,CH471053,U07802,BC005010,BC020369,BE222042,BI489986,BI548620,CR614344,N67537,X78992 NP_008818,AAY14992,EAX00305,EAX00306,AAA91778,AAH05010,CAA55592,P47974,Q53TB4,ABM84325,ABM87781 Hs.503093,Hs.645068 GDB:511261 BRF2|ERF-2|ERF2|RNF162C|TIS11D protein-coding 736935 ZFP37 zinc finger protein 37 homolog (mouse) 1580863 9585434,9535899 7539 A0AVJ9,Q5T7Q4,Q9Y6Q3 NM_003408,AL162588,CH878453,AF022158,BC126390 NP_003399,CAI13578,EAW50556,AAC28425,AAI26391,A0AVJ9,Q5T7Q4,Q9Y6Q3 Hs.150406 GDB:5912687 FLJ38524 zinc finger protein 37 protein-coding 1349108 ZFP40 zinc finger protein 40 homolog (mouse) 7540 GDB:1230438 1606662 ZFP41 zinc finger protein 41 homolog (mouse) 14702039,12477932,11214971 286128 NM_173832,AC138696,CH471162,AK021976,AK024438,AK096024,AL831951,BC034608,CR621152 NP_776193,EAW82273,EAW82274,EAW82275,BAB15728,BAC04676,CAH10581,AAH34608,Q69YS5,Q8N8Y5,Q9H7P0 Hs.668016 DKFZp761O1618|FLJ00028|FLJ38705|ZNF753 protein-coding 1606971 ZFP42 zinc finger protein 42 homolog (mouse) 14688391,18281244,16344273,17211834,16865673,15790780,15146197,14702039,12110702 132625 NM_174900,AC108073,CH471056,AF450454,AK056719,AY429593,BE301754,CN420210,CR624529 NP_777560,EAX04610,EAX04611,EAX04612,AAL47167,BAB71264,AAR07993,Q96MM3 Hs.335787 REX1|ZNF754 protein-coding 1344217 ZFP57 zinc finger protein 57 homolog (mouse) 15070898,8120052 346171 NM_001109809,AL645936,AL669813,AL929591,BX120002,BX927250,CR388408,CR759766,BC157878,CR606639 NP_001103279,CAI18028,CAI17624,CAI41919,CAI95569,CAQ10717,CAQ08216,CAQ06621,AAI57879,Q5JQC7,Q9NU63 Hs.156326 C6orf40|ZNF698|bA145L22|bA145L22.2 chromosome 6 open reading frame 40 protein-coding 1353379 ZFP62 zinc finger protein 62 homolog (mouse) 1580863 16344560,15146197,14702039,12477932,8808410 92379 NM_152283,AC016572,AI689837,AK002206,AK091376,AK091550,BC029573,AL832408 NP_689496,BAC03691,Q8NB50,CAI46133 Hs.509227 FLJ34057|FLJ34231|ZET|ZNF755 protein-coding 1317439 ZFP64 zinc finger protein 64 homolog (mouse) 16189514,16169070,15489334,14702039,12477932,11780052,9373149,9034307,8125298 55734 NM_199427,NM_022088,NM_018197,NM_199426,AL109984,AL121771,CH471077,AK001596,AK001744,AK022690,AK024671,AK090547,AK222712,BC012759,BC021087,BC031524,BC041622,BT009760 NP_955459,NP_071371,NP_060667,NP_955458,CAB86405,CAI43095,CAI43096,CAM28324,CAM28325,CAB90276,CAB90277,CAI21788,CAI21789,EAW75590,EAW75591,EAW75592,EAW75593,BAA91777,BAA91876,BAB14182,BAD96432,AAH12759,AAH21087,AAH41622,AAP88762,Q53H69,Q53XQ1,Q5JWM0,Q5JWM1,Q5JWY3,Q9NPA5,Q9NTW7 Hs.473082 GDB:11508179 MGC940|ZNF338 protein-coding 1350266 ZFP90 zinc finger protein 90 homolog (mouse) 1580863 16344560,15852396,15489334,14702039,12477932,11853319,7576184 146198 NM_133458,AC009162,AC126773,CH471092,AB075834,AK056596,AK074332,AK122847,AK123121,AK126167,BC033165,BC040486,BC040871,BC140886,BC140887,CR593505,DA803284 NP_597715,EAW83234,EAW83235,BAB85540,BAB71228,BAC86467,AAH33165,AAH40486,AAI40887,AAI40888,Q6ZTW2,Q8TF47 Hs.461074,Hs.709017 NK10|ZNF756 protein-coding 1354161 ZFP91 zinc finger protein 91 homolog (mouse) The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2 type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. In addition to the monocistronic transcript originating from this locus, a co-transcribed variant composed of ZFP91 and CNTF sequence has been identified. The co-transcription of ZFP91 and CNTF has also been observed in mouse. 17081983,16582619,15489334,15302935,15009096,12738986,12477932,11483580,11361095,11058868 80829 NM_053023,AP001350,AP003557,CH471076,AB056107,AF310246,AJ270692,AK025502,BC051743,CR600105,CR612197 NP_444251,EAW73811,EAW73816,EAW73818,BAB63373,AAL09963,AAH51743,Q96JP5,Q96JQ9,Q9UI87 Hs.524920 GDB:11503281 FKSG11|PZF|ZNF757 protein-coding 1642406 ZFP91-CNTF ZFP91-CNTF The protein encoded by this gene is a readthrough variant composed of ZFP91 and CNTF sequence. The monocistronic and readthrough variants encode distinct isoforms. The readthrough transcription of ZFP91 and CNTF has also been observed in mouse. 17081983,16582619,16400609,15302935,15009096,12738986,12477932,11361095,11058868,1840538 386607 NM_170768,AP001350,AB057443,BG721319 NP_739574,BAB63374 Hs.524920 MGC51126 protein-coding 1344727 ZFP92 zinc finger protein 92 homolog (mouse) 10854409,9099879 139735 XM_066859,XM_001714585,XM_001714564,U82695 XP_066859,XP_001714637,XP_001714616,A6NM28 GDB:10796095 protein-coding 1350269 ZFPL1 zinc finger protein-like 1 1580863 9653652,18323775,15489334,14671302,12878157,12477932,9253601 7542 NM_006782,AP003068,AY411288,CH471076,AF001891,AF030291,AF043611,AI207587,AK291964,AU279924,BC012530,BC012814 NP_006773,EAW74344,EAW74345,EAW74346,AAB86533,AAF21634,AAD08644,BAF84653,AAH12530,AAH12814,O95159 Hs.98170,Hs.656314 GDB:9177480 D11S750|MCG4 protein-coding 1314245 ZFPM1 zinc finger protein, multitype 1 1580863 18063754,17207461,16127162,15644435,15302935,15231747,12483298,12200364,11675338,9724649,9230307 161882 NM_153813,AC116552,AC135049,CH471184,AF488691,BE219988 NP_722520,EAW66806,EAW66807,EAW66808,AAN45858,Q8IX07 Hs.632218 FOG|FOG1|ZNF408|ZNF89A protein-coding 1314398 ZFPM2 zinc finger protein, multitype 2 The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. 1580641,1580640 16713569,16103912,15705784,15643620,15489334,15220332,14517948,12606418,12477932,11297508,10329627,9927675,10438528,17568391,17309641 1580641,1580640 23414 NM_012082,AC018525,AC022721,AC041039,AC090802,AC103853,CH471060,AB073894,AF119334,AL389974,AL389987,AL389988,AL389989,BC020928,BC109222,BC109223 NP_036214,EAW91899,AAD49558,CAB97539,CAB97540,CAB97541,AAH20928,AAI09223,AAI09224,Q32MA5,Q8WW38,Q9NPQ0 Hs.431009 DIH3|FOG2|MGC129663|MGC129664|ZNF89B|hFOG-2 protein-coding 1323583 ZFR zinc finger RNA binding protein 1580863 15635413,14702039,12477932,11574164,14729963 51663 AC008949,CH471118,AF100742,AJ314790,AK025481,AK055938,AK123306,AK292214,AL137258,BC017879,NM_016107,BC030540,BC038973,BC051893,BC062986,BC107417,BC137084,BC137085 NP_057191,EAX10789,EAX10790,EAX10791,AAD40385,CAC40818,BAB15147,BAF84903,CAB70659,AAH17879,AAH30540,AAH51893,AAH62986,AAI07418,AAI37085,AAI37086,Q05D65,Q96KR1 Hs.435231 GDB:11508183 FLJ41312|ZFR1 protein-coding 1312353 ZFR2 zinc finger RNA binding protein 2 1580863 16344560,10470851 23217 NM_015174,AC004598,AC005777,AC093078,AB029009,DA333602 NP_055989,BAA83038,Q9UPR6 Hs.65750 GDB:9955392 KIAA1086 protein-coding 1344344 ZFX zinc finger protein, X-linked 1580863 9364438,2512506,2497060,2308929,2041734,2500252,2105457,15302935,15060604,14660691,11214319 7543 AC002404,AF045780,AF045781,AF454948,AF454949,AY012072,CH471074,AB209892,AF454950,AF505615,AF505616,AF505617,AF505618,AF505619,AY072770,BC030756,M30608,X59738,X59739,X59740,NM_003410 NP_003401,AAL62492,AAC03062,AAL51082,AAL51083,AAG38815,EAW99013,EAW99014,EAW99015,EAW99016,BAD93129,AAL51084,AAM33383,AAM33384,AAM33385,AAM33386,AAM33387,AAL67136,AAA61309,CAA42416,CAA42417,CAA42418,P17010,Q24JR0,Q59EB9,Q8NHZ1,Q8NHZ2,Q8NHZ3,Q8NHZ4,Q8NHZ5,Q8WWU0,Q8WXB7,Q8WXB8,Q8WXB9,Q9BYX9 Hs.336681 GDB:120502 protein-coding 1347591 ZFY zinc finger protein, Y-linked This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. 1580863 11173854,10779541,7680890,3690661,2511751,2498838,2497060,2308929,2041734,1854720,1849423,15489334,14660691,12815422,12477932,11750730 7544 P08048 NM_003411,AC006157,AF114156,AI469059,BC114526,BC114960,L10393,M30607 NP_003402,AAD15612,AAF21973,AAI14527,AAI14961,AAA72344,AAA61310,P08048 Hs.522845 GDB:120503 MGC138710 protein-coding 1317194 ZFYVE1 zinc finger, FYVE domain containing 1 The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate (PtdIns(3)P)-containing membranes. This gene encodes a protein which contains two zinc-binding FYVE domains in tandem. This protein displays a predominantly Golgi, endoplasmic reticulum and vesicular distribution. Alternatively spliced transcript variants have been found for this gene, and they encode two isoforms with different sizes. 11256955,11804589,11739631,15498874,15489334,14702039,12508121,12477932,11024279,10997877 53349 NM_021260,NM_178441,AL442663,CH471061,AB046809,AF251025,AF311602,AF318319,AJ310569,AK027399,AK098542,BC014902,BC053520 NP_067083,NP_848535,EAW81084,EAW81085,BAB13415,AAG23748,AAK27339,AAL55826,CAC83950,BAB55085,AAH53520,Q9HBF4 Hs.335106 DFCP1|KIAA1589|TAFF1|ZNFN2A1 protein-coding 1348980 ZFYVE16 zinc finger, FYVE domain containing 16 The ZFYVE16 gene encodes endofin, an endosomal protein implicated in regulating membrane trafficking. It is characterized by the presence of a phosphatidylinositol 3-phosphate-binding FYVE domain positioned in the middle of the molecule (Seet et al., 2004 [PubMed 14613930]).[supplied by OMIM] 1580863 11546807,14613930,15621726,17356069,17570516,17272273,16775010,16344560,15592455,15489334,15231748,15144186,14702039,12477932,9205841,16189514 9765 NM_001105251,NM_014733,AC008771,CH471084,AB002303,AF434817,AK090896,AK127003,AL833087,AW952550,BC032227,BX537424,BX649172,BX956000,CR933621,DB208042,BC030808 NP_001098721,NP_055548,EAW95850,EAW95851,BAA20764,AAL30772,CAD89968,AAH30808,AAH32227,CAD97666,CAI45932,Q5H9U2,Q7Z3T8 Hs.482660,Hs.660410 DKFZp686E13162|ENDOFIN|KIAA0305 protein-coding 1345411 ZFYVE19 zinc finger, FYVE domain containing 19 1580863 17081983,16344560,15489334,14702039,12618766,12477932,9373149,8125298 84936 AC012476,CH471125,AB209224,AF445414,AK027746,AK122779,AK225553,BC015738,BC021092,BI860679,CR603480,CR613477,NM_001077268,CR614847,CR621675,CR625018,DA611931,DA653225 NP_001070736,EAW92447,EAW92448,EAW92449,EAW92450,EAW92451,EAW92452,EAW92453,EAW92454,EAW92455,BAD92461,AAO73862,BAB55338,AAH21092,Q59G85,Q96K21 Hs.121676 FLJ14840|MPFYVE protein-coding 1313404 ZFYVE20 zinc finger, FYVE domain containing 20 1580863 11062261,16964243,16034420,15489334,15020713,14702039,12477932,11788822 64145 NM_022340,AC090954,CH471055,AB209673,AK054598,AK092312,AK291288,AL833545,AY009133,BC021246,BC032628,BC106940,BF513881,BX640925 Q9H1K0,NP_071735,EAW64220,EAW64221,BAD92910,BAC03860,BAF83977,AAG33246,AAI06941,CAE45963,Q6MZR5 Hs.475565,Hs.706478 FLJ34993|MGC126210|Rabenosyn-5 protein-coding 1322277 ZFYVE21 zinc finger, FYVE domain containing 21 15489334,14702039,12524540,12477932 79038 NM_024071,AL049840,CH471061,AK057816,AK226142,AK290519,AY395756,BC001130,BC005999,BX248261,CR622229 NP_076976,EAW81843,EAW81844,BAB71589,BAF83208,AAR14313,AAH01130,AAH05999,CAD62589,Q9BQ24 Hs.592322 MGC2550 protein-coding 1317236 ZFYVE26 zinc finger, FYVE domain containing 26 18394578,12477932,9205841 23503 NM_015346,AL049779,AL121595,CH471061,AB002319,AB425197,AK024743,AK128496,BC008927,BC013909,BC033235,BX537886,BX538025,BX648036,BX648683,CR749276,CR749365 NP_056161,EAW80952,EAW80953,EAW80954,EAW80955,EAW80956,BAA20779,BAG11658,BAC87467,AAH08927,AAH33235,CAD97882,CAD97971,CAH10379,CAH18131,CAH18218,Q68DK2,Q8N4W7,Q96H43 Hs.98041 DKFZp686F19106|DKFZp781H1112|KIAA0321|SPASTIZIN|SPG15 protein-coding 1352080 ZFYVE27 zinc finger, FYVE domain containing 27 737633 17082457,16826525,15489334,15164054,14702039,12477932 737633 118813 BF508037,BI758753,BM544601,BU838354,BX647836,CB150532,CR590013,NM_144588,NM_001002262,AL358938,CH471066,AK057481,AK074876,AK097945,AL834235,BC030621,NM_001002261 AAH30621,Q5T4F4,NP_001002261,NP_653189,NP_001002262,CAI14270,CAI14271,CAI14272,EAW49895,EAW49896,EAW49897,EAW49898,EAW49899,EAW49900,EAW49901,EAW49902,BAB71506,BAC11260,BAC05200,CAD38913 Hs.523194 PROTRUDIN|RP11-459F3.2|SPG33 protein-coding 1320885 ZFYVE28 zinc finger, FYVE domain containing 28 1580863 12477932,10997877 57732 NM_020972,AL158068,AL645924,CH471131,AB046863,AK126692,BC032605,BC035793,BC041866,BC053664,BC137309,BC137310 NP_066023,EAW82528,EAW82529,BAB13469,AAH41866,AAH53664,AAI37310,AAI37311,Q49AA1,Q7Z6J3,Q9HCC9 Hs.292056 MGC43699|MGC61592 protein-coding 1321999 ZFYVE9 zinc finger, FYVE domain containing 9 This gene encodes a double zinc finger (FYVE domain) protein that interacts directly with SMAD2 and SMAD3, and is involved in Alzheimer's disease. SMAD proteins transmit signals from transmembrane serine/threonine kinase receptors to the nucleus. The FYVE domain has been identified in a number of unrelated signaling molecules. This protein functions to recruit SMAD2 to the transforming growth factor-beta receptor. The FYVE domain is required to maintain the normal localization of this protein but is not involved in mediating interaction with SMADs. The C-terminal domain of this protein interacts with the TGFB receptor. This protein is a component of the TGFB pathway that brings the SMAD substrate to the receptor. Three alternatively spliced transcripts encoding distinct isoforms have been found for this gene. 1580863 9865696,12809483,9582421,11100470,17693260,17356069,15613484,15489334,15356634,15231848,15231748,14759258,12477932,12432064,12154125,11877415,10615055,16189514 9372 NM_004799,NM_007324,NM_007323,AC105754,AL139156,AL513218,CH471059,AB209125,AF104304,AF130419,AF130420,BC032680 NP_004790,NP_015563,NP_015562,CAI12285,CAI12286,EAX06790,EAX06791,EAX06792,BAD92362,AAC99462,AAD31694,AAD31695,AAH32680,O95405,Q59GI4,Q5T0F6,Q5T0F7,ABW03369 Hs.532345 MADHIP|NSP|SARA|SMADIP protein-coding 732666 ZG16 zymogen granule protein 16 17307141,16713569,16189514,15489334,15340161,12477932,10493829,7720729 123887 NM_152338,AC002301,CH471238,AB092813,AK125559,BC029149 NP_689551,AAC08708,EAW80011,BAC20361,AAH29149,O60844,ABM81721,ABM84876 Hs.632195 MGC34820 protein-coding 1606771 ZGPAT zinc finger, CCCH-type with G patch domain 17081983,16344560,15489335,15489334,14702039,12477932,11780052,11347906 84619 NM_181485,NM_032527,AL121845,CH471077,AK027878,AK074961,BC019338,BC032612,CR593736,CR595933,CR604734,CV027894,DA252406,DA848516,DB025637,NM_001083113 NP_001076582,NP_852150,NP_115916,CAC03670,CAI21879,CAI21880,CAI95713,EAW75220,EAW75221,EAW75222,EAW75223,EAW75224,EAW75225,EAW75226,EAW75227,EAW75228,EAW75229,BAB55426,BAC11317,AAH19338,AAH32612,Q4VXN9,Q5JWJ0,Q8N5A5 Hs.590868 GPATC6|GPATCH6|KIAA1847|MGC44880|RP4-583P15.3|ZC3H9|ZC3HDC9 protein-coding 1346071 ZHX1 zinc fingers and homeoboxes 1 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants encoding the same protein. 10571058,12237128,17303076,17056598,16713569,16169070,15489334,15383276,15302935,15146197,14702039,14667819,12741956,12659632,12477932,12062805,10441475 11244 NM_001017926,NM_007222,AC018992,AC068228,CH471060,AF106862,AF195766,AK025236,AK094451,AK289532,BC040481,BQ008088,CN352595 NP_001017926,NP_009153,EAW92027,EAW92028,EAW92029,AAD50624,AAF35183,BAF82221,AAH40481,Q9UKY1 Hs.612084 GDB:9957529 protein-coding 1342946 ZHX2 zinc fingers and homeoboxes 2 The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. 1299601,1580863 12741956,17447851,17056598,16952470,16713569,15489334,14659886,12477932,10048485 1299601 22882 NM_014943,AC016405,AC104316,CH471060,AB020661,AB083653,AF075099,AI334237,BC042145,BM148156 NP_055758,EAW92012,BAA74877,BAC76615,AAH42145,Q9Y6X8,ABZ92223 Hs.377090,Hs.658443 AFR1|KIAA0854|RAF protein-coding 1342474 ZHX3 zinc fingers and homeoboxes 3 This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. 1580863 12659632,17056598,16713569,15302935,14702039,14659886,12477932,12168954,11827452,11780052,9455477,8889548 23051 NM_015035,AL022394,AL031257,CH471077,AB007855,AB081948,AI754653,AK090560,AK097523,AK122905,AK292415,AW502552,BC020258,BC047070,BC068569,BI458686,BM905948,BM980061,CR598674 NP_055850,CAA18538,CAI42887,CAI42888,CAI42889,CAI42890,CAI42891,CAI42892,CAI42893,EAW75987,EAW75988,BAA23691,BAC65211,BAF85104,AAH68569,Q5JZ64,Q5JZ65,Q5JZ66,Q5JZ67,Q5JZ68,Q5JZ69,Q5JZ70,Q6NUJ7,Q9H4I2 Hs.380133 KIAA0395|TIX1 protein-coding 735694 ZIC1 Zic family member 1 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. 1599905,1580863 11038359,11015565,10737800,9110174,8619474,8542595,15338008,14981711,12783990,12477932,11238441 1599905 7545 Q15915,Q2M3N1 BC104850,BF920299,U79264,BC104848,NM_003412,AC092959,CH471052 AAI04849,AAI04851,Q15915,Q2M3N1,NP_003403,EAW78915,EAW78916 Hs.598590,Hs.647962 GDB:9061923 ZIC|ZNF201 zic protein member 1 protein-coding 1322491 ZIC2 Zic family member 2 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. 1358247,1331525,1580863 9771712,17251188,15590697,15221788,15057823,13678579,11910512,11857562,11285244,11238441,11038359,10984499,8557628,8418661 1358247,1331525 7546 O95409 NM_007129,AL355338,CH471085,AF104902,AF188733,AF193855 NP_009060,CAH70367,EAX09030,EAX09031,AAC96325,AAG38995,AAG28409,O95409 Hs.591205 GDB:9836464 HPE5 protein-coding 1347201 ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. 1599909,1580863 9354794,17764085,17468179,17295247,17185387,15772651,15489334,15470371,14985256,14681828,14679585,12963115,12522805,12477932,11238441,11076863,10861288,8889548,8298651,7747776 1599909 7547 NM_003413,AL035443,CH471150,AF028706,BC113393,BC113395,BM667189,EU532020 NP_003404,CAB41648,EAW88447,AAC05594,AAI13394,AAI13396,ACB30403,O60481,AAI11855 Hs.111227 GDB:249141 HTX|HTX1|ZNF203 protein-coding 1316409 ZIC4 Zic family member 4 This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. This gene encodes a protein of unknown function. 1580863 15489334,15465018,15338008,14702039,12477932,11329013,8682319 84107 NM_032153,AC092959,CH471052,AF332509,AK056262,AK056394,AK094286,AK124600,AK126595,AK127733,BC029507,BC126267,BG208324 NP_115529,EAW78917,EAW78918,EAW78919,AAK06845,BAC04322,BAC86605,AAH29507,AAI26268,Q6ZTI2,Q8N9L1 Hs.415766 FLJ42609|FLJ45833 protein-coding 1320899 ZIC5 Zic family member 5 (odd-paired homolog, Drosophila) This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. 1580863 15465018,15146197,11044622 85416 NM_033132,AL355338,CH471085,AF378304,AI699626,CN304220 NP_149123,CAH70366,EAX09029,AAK55418,Q96T25 Hs.508570 protein-coding 1604492 ZIK1 zinc finger protein interacting with K protein 1 homolog (mouse) 14702039,12477932,8910362 284307 NM_001010879,AC003682,CH471135,AK092538,AK128340,BC047299,BC103957,BC103958,BC103959 NP_001010879,AAC24608,EAW72516,AAI03958,AAI03959,AAI03960,Q3SY52 Hs.454830 MGC119699|MGC119700|MGC119701|ZNF762 protein-coding 1349311 ZIM2 zinc finger, imprinted 2 1580863 10708526,15489334,15203203,12477932 23619 NM_015363,AC006115,CH471135,AF166122,BC104876,BC104878 NP_056178,EAW72475,EAW72479,AAF61478,AAI04877,AAI04879,Q9NZV7 Hs.201776 GDB:9992722 ZNF656 protein-coding 1352082 ZIM3 zinc finger, imprinted 3 1580863 15489334,12477932,11543637 114026 NM_052882,CH471135,AF365931,BC069071,BC114446,BC114503 NP_443114,EAW72481,AAL11635,AAH69071,AAI14447,AAI14504,Q6NTE1,Q96PE6 Hs.348622 GDB:11501764 MGC138876|MGC138877|ZNF657 protein-coding 1347183 ZKSCAN1 zinc finger with KRAB and SCAN domains 1 7557990,17081983,15489334,14702039,12693554,12690205,12477932,7486829,2288909,2014798 7586 AF454940,BC022378,BC112224,BC113697,BX640646,U09848,X52349,NM_003439,AC004522,AC093619,CH236956,CH471091,AK054676,AK074116,AK090495,AK091471,AK123012,AL833578,AY260738,BC011421 AAP97699,AAH22378,AAI12225,AAI13698,CAE45792,AAC50264,CAA36575,P17029,Q7Z4R1,Q96FA2,ABZ92438,NP_003430,EAL23861,EAW76612,EAW76613,BAB84942,AAP83961,AAH11421 Hs.615360 9130423L19Rik|KOX18|MGC138429|PHZ-37|ZNF139|ZNF36 protein-coding 1605808 ZKSCAN2 zinc finger with KRAB and SCAN domains 2 16344560,14702039,12477932 342357 NM_001012981,AC008741,CH471145,AK026852,AK131342,BC130007,BX648785,DB120548 NP_001012999,EAW55768,BAD18498,AAI30008,CAH56131,Q63HK3 Hs.513451 FLJ23199|ZNF694|ZSCAN31 protein-coding 1313974 ZKSCAN3 zinc finger with KRAB and SCAN domains 3 1580863 16341674,15489334,15031282,14702039,14574404,12477932,10520746,16344560 80317 NM_024493,AL021997,AL358785,CH471081,AK091225,AK122790,BC006118,BM762243,BT007427,DB214839,DN831452,U71601 NP_077819,CAI23088,CAH71668,EAX03157,EAX03158,AAH06118,AAP36095,AAB16813,Q9BRR0 Hs.485004 GDB:11508195 FLJ33906|KIAA0426|ZF47|ZFP306|ZNF306|ZNF309|ZSCAN13|Zfp47|dJ874C20.1 zinc finger protein 306 protein-coding 1319105 ZKSCAN4 zinc finger with KRAB and SCAN domains 4 737633,1580863 17910948,15489334,14702039,14574404,12477932 737633 387032 NM_019110,AL022393,CH471081,AK056698,AY781778,BC014031,CR625010 NP_061983,CAC69823,EAX03142,EAX03143,EAX03144,BAB71258,AAV41023,AAH14031,Q969J2,Q96MM8,ABM86659,ABW03500 Hs.44720 FLJ32136|P1P373C6|ZNF307|p373c6.1 zinc finger protein 307 protein-coding 1322493 ZKSCAN5 zinc finger with KRAB and SCAN domains 5 This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain. A similar protein in mouse is differentially expressed in spermatogenesis. Two alternatively spliced transcript variants differing only in the 5' UTR have been described. Additional variants have been found, but their full-length sequences have not been determined. 1580863 10585779,16344560,16314882,14702039,12853948,12690205,12477932,10231032,8889548 23660 NM_145102,NM_014569,NG_000004,AC005020,AC073063,CH236956,CH471091,AB023232,AF170025,AK027714,AK096552,BC030790,BX648490,CA311067,DA044307,DA580238,DA773579 NP_659570,NP_055384,AAS02018,EAL23873,EAW76654,EAW76655,EAW76656,EAW76657,EAW76658,BAA76859,AAF24219,AAH30790,Q75MV2,Q8N718,Q9Y2L8,ABZ92473 Hs.110839 GDB:10794811 FLJ39233|KIAA1015|MGC33710|ZFP95 zinc finger protein 95 homolog (mouse) protein-coding 1345896 ZMAT1 zinc finger, matrin type 1 14702039,12477932,11347906,8889549 84460 NM_001011657,NM_032441,CH471115,Z68868,Z69304,AA101301,AB058692,AK094141,AL831883,BC028029,BC045706,BC152470 NP_001011657,NP_115817,EAX02897,CAI42751,CAI42009,BAB47418,CAD38564,AAI52471,Q5H9K5 Hs.496512 KIAA1789|MGC176728 protein-coding 1353598 ZMAT2 zinc finger, matrin type 2 737633,1580863 15635413,15489334,14702039,12477932 737633 153527 NM_144723,AC116353,CH471062,AK055683,BC056668,CR598999,CR606569,CR617130,CR619696,CR625164 NP_653324,EAW62016,EAW62017,EAW62018,BAB70983,AAH56668,Q96NC0 Hs.350194 FLJ31121 protein-coding 1602466 ZMAT3 zinc finger, matrin type 3 This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. 16844115,14702039,12477932,12196512,11689294,11571644,9400996 64393 NM_022470,NM_152240,AC117456,CH471052,AF355465,AK022358,AK122768,AY037945,BC002896 NP_071915,NP_689426,EAW78424,EAW78425,EAW78426,AAK83287,BAB14020,AAK71491,AAH02896,Q9HA38 Hs.386299 FLJ12296|MGC10613|PAG608|WIG-1|WIG1 protein-coding 1606216 ZMAT4 zinc finger, matrin type 4 14702039,12477932 79698 NM_024645,AC018796,AC048387,AC104864,CH471080,AK023904,BC019598 NP_078921,EAW63263,EAW63264,EAW63265,BAB14719,AAH19598,Q9H898 Hs.591850 FLJ13842 protein-coding 1607019 ZMAT5 zinc finger, matrin type 5 15146077,15489334,15461802,12477932,9847074,7566098 55954 NM_001003692,NM_019103,AC004882,CH471095,AA312132,AK292671,AL160311,BC009717,BG285784,BK005198,BU598307,CR456353,CR457393 NP_001003692,NP_061976,EAW59837,EAW59838,BAF85360,CAB77284,AAH09717,DAA05496,CAG30239,CAG33674,Q9UDW3,CAK54494,CAK54793 Hs.643608 protein-coding 1323172 ZMIZ1 zinc finger, MIZ-type containing 1 17967885,17584785,17512505,16777850,14702039,14609956,12477932,12421765,10737800,10574462,9110174,8889548,8619474 57178 NM_020338,AL391665,CH471083,AB033050,AF070622,AK023603,AK024490,AK025812,AL049432,AL539520,AY235683,BC007288,BC035890,BC049845,BC068072,BC117687,BX644960,BE082814,CD657106,CF137779,CF264960 NP_065071,CAI40993,EAW54639,EAW54640,EAW54641,EAW54642,EAW54643,EAW54644,BAA86538,BAB15780,AAP13542,AAH07288,AAI17688,Q149N7,Q5JSH9,Q9H7J0,Q9ULJ6 Hs.193118 GDB:11507591 FLJ13541|KIAA1224|MIZ|RAI17|Zimp10|hZIMP10 protein-coding 1605930 ZMIZ2 zinc finger, MIZ-type containing 2 ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM] 16051670,16189514,15489334,14702039,12853948,12690205,12477932,11572484,11230166,9853615,9847074 83637 NM_174929,AC004859,AC013436,CH236960,CH471128,AB015330,AB067473,AK057115,AK057378,AK090415,NM_031449,AK090841,AK097263,AK128359,AL136572,AL831933,AY426594,BC008049,BC016968,BC021924,BC110435,BC131780,BI115680,CD367243 NP_113637,NP_777589,AAP22367,AAP22368,EAL23750,EAW61083,EAW61084,EAW61085,BAA34789,BAB67779,BAC03396,BAC87398,CAB66507,CAH56269,AAR85526,AAH21924,AAI10436,AAI31781,Q6ZRB4,Q8NF64,Q96HV3 Hs.77978,Hs.600681 DKFZp761I2123|KIAA1886|ZIMP7|hZIMP7 protein-coding 1313677 ZMPSTE24 zinc metallopeptidase (STE24 homolog, S. cerevisiae) This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. 1599910,1580863 10373325,17352743,17152860,16710414,16344560,16303743,16297189,15843403,15671064,15489334,15317753,14702039,12913070,12477932,10076063,9700155 1599910 10269 NM_005857,AL050341,CH471059,CQ782720,CQ782995,AA436253,AB016068,AF064867,AI003768,AK027874,AK074784,AK075007,BC037283,DB285015,Y13834 NP_005848,CAB81610,EAX07233,EAX07234,CAF85955,CAF86212,BAA33727,AAC68866,AAH37283,CAB46277,O75844,ABW03708,ABW03365 Hs.132642,Hs.591501 GDB:9955840 FACE-1|FACE1|FLJ14968|STE24|Ste24p protein-coding 1315977 ZMYM1 zinc finger, MYM-type 1 737633 16710414,14702039,12477932 737633 79830 NM_024772,AL607089,CH471059,AK026804,AK096206,AK125741,BC037313,BX537537,BX648307,CD683862,CR936813 NP_079048,CAI12901,CAI12902,CAI12903,EAX07427,EAX07428,EAX07429,EAX07430,EAX07431,BAB15558,AAH37313,CAD97777,Q5SVZ6,Q5SVZ7,Q5SW02,Q8N3X8 Hs.471243 FLJ23151|FLJ43753|MYM|RP11-181E22.4 protein-coding 1317868 ZMYM2 zinc finger, MYM-type 2 1580863 8889548,9425908,9576949,17471537,17389761,17027752,16964243,16381901,15588942,15489336,15489334,15302935,15231748,15057823,14651998,12776193,12594223,12493763,12477932,11256614,11230166,11076863,10643154,10480903,9889006,9716603,9694738,9499416 7750 NM_197968,AJ007676,NM_003453,AL137119,AL138688,CH471075,AF012126,AF035374,AF060181,AJ224901,AK226118,AK289741,AL136621,BC036372,BI460760,BM724534,BX643074,BX647944,BX648905,Y13472 NP_003444,NP_932072,CAA07604,CAH70133,CAH70134,CAH70135,CAH71822,CAH71823,EAX08243,EAX08244,EAX08245,EAX08246,EAX08247,EAX08248,AAC01561,AAB88464,AAC23591,CAA12204,BAF82430,CAB66556,AAH36372,CAH56193,CAA73875,Q0JSM7,Q0JSV3,Q5W0Q3,Q5W0T3,Q9H0V5,Q9UBW7,CAL38411,CAL38487 Hs.706777 GDB:6382650 FIM|MYM|RAMP|SCLL|ZNF198 protein-coding 1350026 ZMYM3 zinc finger, MYM-type 3 1580863 10486218,17081983,15790807,15489334,15302935,12838571,12493763,12477932,10662551,9205841,8817323 9203 NM_201599,AL590762,CH471132,AB002383,AK290762,AY927528,BC013009,BC069057,BT007095,CR595912,CR612319,CR614980,CR621521,X95808,NM_005096 NP_005087,NP_963893,EAX05301,EAX05302,EAX05303,BAA20839,BAF83451,AAH13009,AAH69057,AAP35759,CAA65075,Q14202,Q96E26 Hs.522684 GDB:9785766 DXS6673E|KIAA0385|MYM|XFIM|ZNF198L2|ZNF261 protein-coding 1319940 ZMYM4 zinc finger, MYM-type 4 1580863 10486218,15302935,12477932,12356764,10449923,9455477,8889548 9202 AL160000,AL356362,AL590434,CH471059,AB007885,BC012093,BC127113,BC127114,BG499626,BU683493,BX647376,BX648067,NM_005095,CD653525,CR594772,CR936741 NP_005086,CAI22686,CAI22687,CAI22691,CAI12468,EAX07417,EAX07418,EAX07419,BAA24855,AAH12093,AAI27114,AAI27115,Q5VZL5 Hs.269211 GDB:9955457 CDIR|DKFZp686B09210|DKFZp686L0547|KIAA0425|MYM|ZNF198L3|ZNF262 protein-coding 1343268 ZMYM5 zinc finger, MYM-type 5 1580863 15489334,15057823,12477932,11042152,10894931 9205 NM_001039649,NM_001039650,AL355001,CH471075,AF161535,AJ133352,AJ133353,AJ133354,AJ133355,BC007048,BI561630,BT006687,BX647750 NP_001034738,NP_001034739,CAI16180,CAI16181,EAX08235,EAX08236,EAX08237,EAX08238,EAX08239,EAX08240,EAX08241,AAF29022,CAB57262,CAB57263,CAB57264,CAB57265,AAH07048,AAP35333,Q5T6E1,Q5T6E3,Q9UJ78 Hs.530988 GDB:9955460 HSPC050|MYM|ZNF198L1|ZNF237 zinc finger protein 237 protein-coding 1345857 ZMYM6 zinc finger, MYM-type 6 1580863 10486218,15489334,14702039,12477932,10718198,11884399,11282025 9204 AC114490,AL607089,CH471059,AA846430,AB037774,AF055470,AK000927,AK092067,AK129824,AL389985,AL705390,AL832911,AL833263,AV734109,BC007070,BC029439,BC033903,BC043174,BC068534,BC107880,BC117463,BT007117,NM_007167 NP_009098,CAI12897,CAI12898,CAI12899,EAX07432,EAX07433,BAA92591,AAD15797,BAA91430,CAH10638,AAH07070,AAH29439,AAH33903,AAH68534,AAI07881,AAI17464,AAP35781,O95789,Q32Q23,Q4G108,Q5SVZ9,Q5SW00,Q5SW01,Q69YL4,Q7L9K1,Q8N385,Q8NCS4,Q9P2J4 Hs.533986,Hs.623978,Hs.675613 GDB:9955458 MYM|ZNF198L4|ZNF258 zinc finger protein 258 protein-coding 1351816 ZMYND10 zinc finger, MYND-type containing 10 1580863 16189514,11256614,16641997,16381901,15540210,15489336,15489334,15122337,14702039,12794757,12629521,12477932,11230166,11085536,11076863,9373149,8125298 51364 NM_015896,AC002481,CH471055,AB209621,AK058135,AK093455,AK096525,AK223343,AL833828,BC022186,BC033732,BE500984,CR591482,CR615130,U70824,U70880 NP_056980,AAB67311,EAW65103,EAW65104,EAW65105,BAD92858,BAD97063,CAD38688,AAH33732,AAC24726,AAC24728,O75800,Q0JTU7,Q0JUW6,Q53FE6,Q59F40,CAL37695,CAL38065 Hs.526735,Hs.627171 BLU|FLU zinc finger, mynd domain containing 10 protein-coding 1606319 ZMYND11 zinc finger, MYND domain containing 11 The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. 7621829,17721438,16565076,16382137,16300738,15231748,15164054,14651845,12894593,12477932,11733528,11148209,10734313,9663660,8889548,12659632,16189514 10771 NM_212479,AL589988,AL603831,AL713922,AL731539,CH471072,AI031881,AY732489,BC012586,BC034784,BC091489,CB241408,CF137216,CR619559,DQ335452,DQ335453,DQ335454,DQ335455,X86098,NM_006624 NP_006615,NP_997644,CAH69845,CAH69846,CAI40899,CAQ09250,EAW86539,EAW86540,EAW86541,EAW86542,AAV33128,AAH12586,AAH34784,AAH91489,ABC72408,ABC72409,ABC72410,ABC72411,CAA60052,Q15326,Q2LD45,Q2LD46,Q2LD47,Q2LD48,Q5BJG6,Q5VUI0,Q5UGI2,Q6PJR5,Q8N4B3,ABM82243,ABM85427 Hs.292265 BRAM1|BS69|MGC111056|RP11-486H9.1 protein-coding 1316209 ZMYND12 zinc finger, MYND-type containing 12 11256614,16710414,15489334,14702039,12477932,11230166 84217 NM_032257,AL445669,AL513331,CH471059,AK057384,AL136858,BC024186 NP_115633,CAH70745,EAX07159,EAX07160,BAB71461,CAB66792,AAH24186,Q9H0C1,ABM82548,ABM85739 Hs.294009 DKFZp434N2435 zinc finger, mynd domain containing 12 protein-coding 1320408 ZMYND15 zinc finger, MYND-type containing 15 1580863 12477932,11230166 84225 NM_032265,AC091153,CH471108,AL136893,BC067296,BC090874 NP_115641,EAW90414,EAW90415,CAB66827,Q9H091 Hs.47223 DKFZp434N127 protein-coding 1319740 ZMYND17 zinc finger, MYND-type containing 17 15146197,12477932 118490 BX500736,BX537678,CN395159,CR936824,NM_001024593,AL353731,CH471083,AK096884,BC094693,BC109255,BC109256 AAI09257,CAD97808,Q4VC12,NP_001019764,CAI52491,EAW54495,BAC04883,AAH94693,AAI09256 Hs.631823 FLJ39565 zinc finger, mynd domain containing 17 protein-coding 1353400 ZMYND19 zinc finger, MYND-type containing 19 ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM] 1580863 16189514,16039987,15489334,12477932,12208518 116225 NM_138462,AL365502,CH471090,AJ298882,BC012948,BU147462 NP_612471,CAI14585,EAW88402,CAC16691,AAH12948,Q5T366,Q96E35,ABM85574 Hs.128096 MIZIP|RP11-48C7.4 zinc finger, mynd domain containing 19 protein-coding 1319938 ZMYND8 zinc finger, MYND-type containing 8 The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. 1580863 16147992,17081983,16713569,15489334,15302935,15231748,15095401,14702039,12477932,11780052,11149944,11003709,10574461,10469140,12775419,9373149,8125298 23613 NM_012408,NM_183047,NM_183048,AL031666,AL049540,AL390212,CH471077,AB032951,AF144233,AF233453,AF273045,AF454056,AK000275,AK001175,AK026151,AK074262,AK098067,AK122966,AK225857,AL137703,BC030721,BC092432,BC146802,BI553958,BX641005,CR606493,DQ082998,DQ082999,DQ368669,DQ368670,DQ368671,DQ368672,DQ368673,DQ368674,DQ368675,DQ368676,DQ368677,DQ368678,DQ368679,DQ368680,U48251 NP_036540,NP_898868,NP_898869,CAI21839,CAI21840,CAI21842,CAI21843,CAI21844,CAI20088,CAI20089,EAW75703,EAW75704,EAW75705,EAW75706,EAW75707,EAW75708,EAW75709,EAW75710,EAW75711,EAW75712,EAW75713,EAW75714,EAW75715,BAA86439,AAF06063,AAF71262,AAG34905,AAL50790,CAI46211,AAH30721,AAH92432,AAI46803,CAE46008,AAY85630,AAY85631,ABC86680,ABC86681,ABC86682,ABC86683,ABC86684,ABC86685,ABC86686,ABC86687,ABC86688,ABC86689,ABC86690,ABC86691,AAC72244,Q2HXV1,Q2HXV2,Q2HXV3,Q2HXV4,Q2HXV5,Q2HXV7,Q2HXV8,Q2HXV9,Q2HXW0,Q2HXW1,Q2HXW2,Q569J9,Q5JV90,Q5TH07,Q5TH08,Q5TH11,Q5TH12,Q9P1C2,Q9UKN6,Q9ULU4 Hs.446240,Hs.658553,Hs.668465 GDB:9992907 MGC31836|PRKCBP1|PRO2893|RACK7 protein kinase c binding protein 1 protein-coding 1343481 ZNF1 zinc finger protein 1 (A11-500) 7548 GDB:120504 1342937 ZNF10 zinc finger protein 10 The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. 1580863 15489334,12477932,11405226,10748030,9278146,9016654,8262519,7865130,7649249,2288909,2014798 7556 NM_015394,AC026786,CH471218,AI972895,AL110188,BC024182,BE895826,X52332 NP_056209,EAW54790,EAW54791,EAW54792,CAB53668,AAH24182,CAA36558,P21506,Q9UG14,ABZ92247 Hs.507355 GDB:125317 KOX1 protein-coding 1354323 ZNF100 zinc finger protein 100 737633,1580863 15489334,12477932,8467795 737633 163227 NM_173531,AC092364,CH471106,AK126551,BC031248,BC031335,BC035579,BX640982 NP_775802,EAW84906,AAH31248,AAH35579,CAE45992,Q4G131,Q6MZN6,Q8IYN0,EAW84905 Hs.365142,Hs.535881 GDB:132295 FLJ44587 protein-coding 1350989 ZNF101 zinc finger protein 101 737633,1580863 17081983,16189514,14727140,14702039,12477932,11441184,8467795 737633 94039 AL096747,AY149174,BC011502,BC094808,BC119680,BC119681,NM_033204,AC011458,CH471106,AK097169 CAB46422,AAN46749,AAH11502,AAH94808,AAI19681,Q0VDG8,Q504T0,Q8IZC7,Q9Y4S0,NP_149981,EAW84855,EAW84856,EAW84857 Hs.631642 GDB:132296 DKFZp570I0164|HZF12|MGC149565|MGC149566 protein-coding 1344186 ZNF107 zinc finger protein 107 (Y8) 7660 GDB:132302 1354481 ZNF108 zinc finger protein 108 (Y9) 8467795 7661 GDB:132303 1351865 ZNF114 zinc finger protein 114 12477932,8467795 163071 AC008392,CH471177,CQ783060,AK075062,AK291575,BC014935,BC016811,BC034032,BC050996,BC125068,BC125069,NM_153608 NP_705836,EAW52326,CAF86265,BAC11378,BAF84264,AAH34032,AAI25069,AAI25070,Q8N4J1,Q8NC26 Hs.511883 GDB:132309 MGC149700|MGC17986 protein-coding 1344106 ZNF114P1 zinc finger protein 114 pseudogene 1 387493 1348531 ZNF115 zinc finger protein 115 (Y20) 7668 GDB:132310 1350257 ZNF116 zinc finger protein 116 (Y21) 7669 GDB:132311 1343353 ZNF117 zinc finger protein 117 1580863 2023909,2505992,12477932,2115127,1427907 51351 NM_015852,NG_006928,AC073210,AF075025,BC034021,CR608597,M27879,M55422,M61867 NP_056936,AAG41761,AAA36010,AAA58666,Q03924,AAI56437 Hs.250693 GDB:132404 H-plk|HPF9|MGC22613 zinc finger protein 117 (hpf9) protein-coding 1345056 ZNF11A zinc finger protein 11a (KOX 2) 1580863 8464732 7557 P17013 X68686 GDB:125318 1351916 ZNF11B zinc finger protein 11b (KOX 2) 1580863 1639412 7558 Q06732 NM_006955,AJ491697 GDB:128306 1349914 ZNF12 zinc finger protein 12 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. 1580863 16806083,14702039,12477932,7865130,2288909,2026422 7559 NM_006956,AC073343,CH236963,CH878731,AB021643,AF505656,AI879099,AK022691,AK055709,AY500354,BC051892,BX114779,BX640749,CR618686,CR620647,X52334,NM_016265 NP_057349,NP_008887,EAW55012,EAW55013,EAW55014,EAW55015,EAW55016,BAA86989,AAM28195,BAB14183,AAS55104,CAE45857,CAA36560,P17014,Q6N016,Q6RFS4,Q8NHZ0,Q9H9P0 Hs.431471 GDB:125319,GDB:11508647 GIOT-3|HZF11|KOX3|ZNF325 protein-coding 1342983 ZNF121 zinc finger protein 121 15146197,12934113,8468057 7675 NM_001008727,AC008567,AC008759,CH471106,M99593,AU253046,CN360954,CN360955 NP_001008727,EAW84042,P58317 Hs.501537 GDB:134006 D19S204|ZHC32|ZNF20 protein-coding 1346874 ZNF123 zinc finger protein 123 1580863 1339395,1992479 7677 S52506 AAB24880,P35273 GDB:134725 HZF-1 protein-coding 1314784 ZNF124 zinc finger protein 124 1580863 15489334,14702039,12477932,7916577,16710414 7678 Q15973,Q5T2V5 NM_003431,AL390728,CH471148,AK054647,AK131017,BC013605,BC032514,BC096349,BC096350,BC096351,BC099661,S54641 NP_003422,CAI14563,CAI14564,EAW77169,AAH96349,AAH96350,AAH96351,AAH99661,AAB25346,AAB25347,Q15973,Q5T2V5 Hs.421238,Hs.651454,Hs.655205 GDB:134726 HZF-16|HZF16|MGC117046 protein-coding 1354391 ZNF125 zinc finger protein 125 1580863 1339395 7679 S52508 AAB24882,P35274 GDB:134727 HZF-3|HZF3 protein-coding 1352717 ZNF126 zinc finger protein 126 1580863 1339395 7680 S52507 AAB24881,P35275 GDB:134728 HZF-2|HZF2 protein-coding 1349875 ZNF127AS zinc finger protein 127 antisense 10196367 10108 GDB:9955234 1347064 ZNF13 zinc finger protein 13 (KOX 5) 1580863 7560 P17016 X52336 GDB:125320 1353025 ZNF131 zinc finger protein 131 1580863 7557990,17306895,15489334,15372022,14702039,12477932,12163020 7690 NM_003432,AC106800,CH471119,AK057343,BC017923,BC035875,U09410 NP_003423,EAW56047,EAW56048,AAH35875,AAC50251,P52739 Hs.535804 GDB:136981 pHZ-10 protein-coding 1350451 ZNF132 zinc finger protein 132 1580863 12477932,7557990,14702039 7691 NM_003433,AC012313,CH471135,AK057460,BC109107,BC109108,BQ774411,U09411 NP_003424,EAW72590,EAW72591,AAI09108,AAI09109,AAC50252,P52740,Q32MI9,ABZ92444 Hs.156169 GDB:136982 MGC126390|MGC126391|pHZ-12 protein-coding 1343941 ZNF133 zinc finger protein 133 1580863 7557990,9278146,17934332,16344560,15489334,14578011,12477932,11780052,7649249 7692 NM_003434,NM_001083330,AL049646,CH471133,AK123005,AK291389,BC001887,BT007310,DB270242 NP_003425,NP_001076799,CAC15508,CAI21832,CAI21833,CAI21834,CAI21835,EAX10249,EAX10250,EAX10251,EAX10252,EAX10253,BAF84078,AAH01887,AAP35974,P52736,Q53XU1,Q5JXV8,Q5JXV9,Q5JXW0 Hs.472221 GDB:137032 ZNF150|pHZ-13|pHZ-66 protein-coding 1352509 ZNF134 zinc finger protein 134 1580863 7557990,12477932 7693 AC003682,CH471135,AK291763,BC011646,BC021280,BC042636,NM_003435,BC112294,BC113410,U09412 NP_003426,AAC24610,EAW72518,BAF84452,AAH11646,AAH21280,AAH42636,AAI12295,AAI13411,AAC50253,P52741,Q5U5N5,Q6PJ68,Q6PJU4,Q9Y4B2,ABZ92445 Hs.469694 GDB:137033 MGC138499|MGC141970|pHZ-15 protein-coding 1349048 ZNF135 zinc finger protein 135 1580863 14702039,7557990,12477932,8478004,1946370,1505991 7694 NM_003436,AC008751,CH471135,M88370,AK094202,AK095796,AK098011,AL833637,BC046434,BX647775,U09413,X65231 NP_003427,EAW72552,EAW72553,EAW72554,EAW72555,EAW72556,AAA61328,BAC04309,BAC05214,AAH46434,AAC50254,CAA46338,P52742,Q15933,Q15936,Q5U5L3,Q8N1I7,Q8N9M3 Hs.85863 GDB:132130,GDB:137034 ZNF61|ZNF78L1|pHZ-17|pT3 protein-coding 1345728 ZNF136 zinc finger protein 136 1580863 16189514,15489334,14702039,12477932,7865130,7649249,7557990 7695 P52737,Q6RFS2 AC022415,CH471106,AK123008,NM_003437,XM_001126650,AC012618,BC006421,BQ574220,U09367,AY500356 EAW84264,NP_003428,XP_001126650,AAH06421,AAC50261,P52737,Q6RFS2,AAS55106 Hs.479874 GDB:137035 pHZ-20 protein-coding 1345314 ZNF137 zinc finger protein 137 1580863 15489334,12477932,7557990 7696 NM_003438,NR_023311,AC022150,BC110455,BC110456,BM988340,BQ893730,U09414 NP_003429,AAI10456,AAI10457,AAC50255 Hs.373648 GDB:137042 MGC119990|MGC119991|pHZ-30 pseudo 1353909 ZNF138 zinc finger protein 138 1580863 7557990,14702039,12477932 7697 BC141847,U09847,NM_006524,AC073349,CH471204,AK027335,AK055644,BC037426,BC131762 AAC50263,P52744,NP_006515,EAW77979,EAW77980,EAW77981,EAW77982,EAW77983,AAI31763 Hs.184080 GDB:137043 pHZ-32 protein-coding 1351207 ZNF14 zinc finger protein 14 The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. 1580863 8262519,7649249,2288909 7561 AC011458,AC104523,CH471106,AA286756,AB021644,AK074832,AV726241,AW675436,BE392040,BM836276,CA414092,CD358782,X52337,NM_021030 EAW84858,BAA86990,NP_066358,CAA36563,P17017 Hs.659932 GDB:125321 GIOT-4|KOX6 protein-coding 1351095 ZNF140 zinc finger protein 140 1580863 7557990,14702039,12477932,7649249 7699 P52738,Q8IV75 NM_003440,AC026786,AC073911,CH471218,AK122741,BC022291,BC040561,BM477600,CR601967,U09368 NP_003431,EAW54794,EAW54795,EAW54796,EAW54797,EAW54798,AAH22291,AAH40561,AAC50262,P52738,Q8IV75 Hs.181552 GDB:137045 pHZ-39 protein-coding 1353813 ZNF141 zinc finger protein 141 1580863 8268908,16344560,15489334,12477932,9671765 7700 NM_003441,AC079140,AC092574,CH471131,BC036854,BC057244,BC074853,DA385292,L15309 NP_003432,AAY41036,EAW82669,EAW82670,EAW82671,AAH74853,AAC37529,Q15928,Q4W5N2 Hs.654355 GDB:137046 D4S90|pHZ-44 protein-coding 1320100 ZNF142 zinc finger protein 142 1580863 7557990,17081983,14702039,12477932,9039502,8889548 7701 NM_005081,NM_001105537,AC012510,AC079810,CH471063,AK095027,BC033631,BC038226,BC053849,BM719343,D87073,U09849 NP_005072,NP_001099007,EAW70630,EAW70631,EAW70632,EAW70633,BAA13242,AAC50265,P52746 Hs.657969 GDB:137047 pHZ-49 protein-coding 1313824 ZNF143 zinc finger protein 143 1580863 9009278,9566884,17938208,17707600,17478512,17297437,15489334,14702349,12477932,11724783,9776743,9705341,7641696,7557990 7702 NM_003442,AC127030,AC132192,AJ277546,AJ295844,CH471064,AF071771,AK291133,BC014458,BC020219,U09850 NP_003433,CAC14172,CAC17610,EAW68589,AAC96102,BAF83822,AAH20219,AAC50266,P52747,Q9H176,Q9H4D4,ABZ92446 Hs.523471 GDB:138991 SBF|STAF|pHZ-1 protein-coding 1342677 ZNF146 zinc finger protein 146 1580863 8665923,8107129,16344560,15881673,15838871,15489334,15146197,15057824,12754738,12477932,11306801,10449921,9935176,8641144 7705 NM_007145,NM_001099638,NM_001099639,AC012617,AJ011806,AI039686,BC005154,BC065568,BC110500,BC110501,CN409203,DA177508,DA395000,DA645504,DA806687,DB068031,DR155969,X70394 NP_009076,NP_001093108,NP_001093109,CAB41967,AAI10501,AAI10502,CAA49844,Q15072 Hs.643436 GDB:230289 MGC125660|MGC125661|OZF protein-coding 732332 ZNF148 zinc finger protein 148 1580863 9685330,8355710,17940278,17663720,17560543,17019648,16964243,16827139,16825291,16517939,16384873,16344560,15489334,15302935,15175029,14963412,14712222,12759240,12477932,12393719,11416144,10899165,10727401,10359087,9925940,9457682,9144414,8943318,7557990 7707 NM_021964,AC108688,CH471052,U96633,AA481164,AF039019,AF432210,AJ236885,AL833616,BC018971,BC035591,BC050260,BC128582,BQ441085,DA492993,DA726996,DN994032,DQ090088,L04282,U09851 NP_068799,EAW79394,EAW79395,EAW79396,EAW79397,EAW79398,AAB57692,AAC39926,AAL99917,CAA15422,AAH18971,AAH35591,AAH50260,AAY99631,AAA36664,AAC50267,Q12900,Q15552,Q4FD37,Q6PJ98,Q8IWK7,Q8TDH4,Q9UQR1 Hs.592591,Hs.693585 GDB:304952 BERF-1|BFCOL1|HT-BETA|ZBP-89|ZFP148|pHZ-52 protein-coding 1347937 ZNF150 zinc finger protein 150 (pHZ-66) 7708 GDB:304966 1349269 ZNF154 zinc finger protein 154 1580863 7557990,16344560,15146197,14702039,12477932 7710 NM_001085384,AC003006,AC004017,CH471135,AB095924,AI949650,AK092261,BC152404,BC152426,BC152561,CN280337,DB162039,U20648 NP_001078853,EAW72526,EAW72527,BAC23100,BAC03839,AAI52405,AAI52427,AAI52562,AAC50257,Q13106,AAI60120 Hs.646378,Hs.649031 GDB:304989 MGC176628|MGC176661|pHZ-92 protein-coding 1352629 ZNF155 zinc finger protein 155 1580863 7557990,15489334,15057824,14702039,12743021,12477932,8617494 7711 NM_003445,NM_198089,AC006213,AC018725,CH471126,U46188,U46190,AF187986,AK022875,BC075050,BC075051,BC126377,BC130381,BQ893627,U09852 NP_003436,NP_932355,AAF18684,EAW57238,EAW57239,EAW57240,AAB03530,AAB03532,AAF04102,BAB14287,AAH75050,AAH75051,AAI26378,AAI30382,AAC50268,Q12901,Q16646,Q9H9E2,ABZ92447 Hs.502127 GDB:304990 MGC161655|pHZ-96 protein-coding 1344228 ZNF157 zinc finger protein 157 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. 1580863 8586441,15772651,15489334,12477932,11944989 7712 NM_003446,AL590223,AL591503,CH471164,BC075003,CO245585,U28687 NP_003437,EAW59299,AAH75003,AAA97578,P51786,ABZ92448 Hs.89897 GDB:321128 HZF22 protein-coding 1343254 ZNF158 zinc finger protein 158 (HZF23) 7713 GDB:321129 1350528 ZNF159 zinc finger protein 159 (F11) 7714 GDB:342063 1342906 ZNF16 zinc finger protein 16 The protein encoded by this gene contains a C2H2 type of zinc finger, and thus may function as a transcription factor. This gene is located in a region close to ZNF7/KOX4, a gene also encoding a zinc finger protein, on chromosome 8. Two alternatively spliced variants, encoding the same protein, have been identified. 1580863 15489334,14702039,12477932,11054286,9373149,8125298,7486829,2288909 7564 NM_001029976,AF235103,CH471162,AF244088,AK096815,AK127625,AK226016,AL834451,BC010996,CR623646,DQ117529,X52340,NM_006958 NP_008889,NP_001025147,EAW82027,EAW82028,AAF75235,CAD39111,AAH10996,AAZ20773,CAA36566,P17020,Q45SH7,Q8ND22,Q9NRA4 Hs.493225 GDB:125323 KOX9 zinc finger protein 16 (kox 9) protein-coding 1602451 ZNF160 zinc finger protein 160 The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Three alternative transcripts encoding the same protein have been described. 11410164,16344560,14702039,12477932,11214971,10997877,7865130,7774943 90338 NM_033288,NM_001102603,NM_198893,AC010328,CH471135,AB046831,AF027144,AF277623,AK024442,AK024789,BC000807,BC012054,BC094880,BF570224,BU430880,CR749613,DA230397,DB078640,X77744,X78928 NP_150630,NP_001096073,NP_942596,EAW72110,EAW72111,EAW72112,EAW72113,EAW72114,BAB13437,AAB84023,AAK61306,BAB15732,AAH00807,AAH94880,CAH18407,CAA55528,O14889,Q68D23,Q9BVY9,Q9HCG1 Hs.655967 GDB:361695 DKFZp686B16128|F11|FLJ00032|HKr18|HZF5|KIAA1611|KR18 protein-coding 1346697 ZNF164 zinc finger protein 164 7717 GDB:392166 1342847 ZNF165 zinc finger protein 165 This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. 1580863 16189514,15489334,14574404,12477932,11076058,9244436,7490084 7718 NM_003447,AL121944,CH471081,U88083,U88084,U88085,U88086,AK292371,AL546097,AL583605,AY083664,AY366500,BC026092,BC037779,U78722,X84801 NP_003438,CAB92080,EAX03131,AAD04755,BAF85060,AAM08933,AAQ73196,AAH26092,AAH37779,AAC51658,CAA59268,P49910,Q53Z40,Q8IY56,ABZ92449 Hs.535177 GDB:454063 LD65|ZSCAN7 protein-coding 1313155 ZNF167 zinc finger protein 167 16189514,15489334,14702039,12477932,7814019,1946370,1505991 55888 NM_018651,AC099669,CH471055,M88372,M88373,AF075093,AF154846,AK022800,AK291285,AY280798,BC010555,BC063020,BC120982,BC120983,BC127639,BC127640,BC148260,NM_025169,CR592545,L32164 NP_079445,NP_061121,EAW64711,AAA61330,AAA61331,AAF72104,BAB14250,BAF83974,AAQ16302,AAH10555,AAH63020,AAI20983,AAI20984,AAI27640,AAI27641,AAI48261,AAA36818,Q0VAN9,Q0VAP0,Q15918,Q16524,Q9H9H9,Q9P0L1,AAI66704 Hs.529512,Hs.696570 GDB:454108 FLJ12738|ZFP|ZKSCAN7|ZNF448|ZNF64 protein-coding 1312178 ZNF169 zinc finger protein 169 1580863 17567985,16344560,14702039,12477932,9722951,9186526,9071574 169841 AL691447,CH471089,U28251,U28322,AK093956,AK122832,AK289742,BC011947,BC019228,BC035060,BC047702,BP873364,DA490480,NM_194320 NP_919301,CAI13276,EAW62878,EAW62879,EAW62880,EAW62881,EAW62882,AAA70188,AAA70187,BAF82431,AAH11947,AAH19228,AAH35060,AAH47702,Q14928,Q14929,Q5SR55,Q6PIG1,Q6PJ92,Q7Z761 Hs.387623 GDB:555552 MGC51961 protein-coding 1343220 ZNF17 zinc finger protein 17 16344560,15057824,14702039,11853319,2288909,2115127,2014798 7565 NM_006959,AC003002,CH471135,AB075827,AK097123,AK098183,AK127948,AK128471,DA476988,DA746547,X52341 NP_008890,EAW72500,BAB85533,BAC04956,BAC05252,CAA36567,P17021,Q8N7M1,AAI52893,ABZ92248 Hs.710278 GDB:125324 FLJ40864|FLJ46058|FLJ46615|HPF3|KIAA1947|KOX10 protein-coding 1353933 ZNF170 zinc finger protein 170 (clone 164) 7723 GDB:580587 1346136 ZNF171 zinc finger protein 171 (clone 165) 7724 GDB:580590 1343184 ZNF172 zinc finger protein 172 (clone 130) 7725 GDB:580591 1322583 ZNF174 zinc finger protein 174 1580863 10567577,7673192,15592455,15489334,12477932,11741982,16189514 7727 NM_001032292,NM_003450,AC025283,CH471112,AF542096,BC000876,BC001161,BT006923,CR590935,U31248 NP_001027463,NP_003441,EAW85368,AAN40766,AAH00876,AAH01161,AAP35569,AAB04897,Q15697,Q53Y68,Q8IZN5 Hs.155204 GDB:595513 ZSCAN8 protein-coding 1346277 ZNF175 zinc finger protein 175 1580863 8838321,15489334,15081264,15057824,14688346,12477932,1602151 7728 NM_007147,AC018755,AC020914,CH471135,CQ840917,AI221738,AK292687,BC007778,BC052997,BX474148,D50419 NP_009078,AAF87843,EAW72029,EAW72030,CAH05700,BAF85376,AAH52997,BAA23362,Q9Y473 Hs.119014 GDB:700008 OTK18 protein-coding 1344072 ZNF176 zinc finger protein 176 7729 GDB:666402 1353253 ZNF177 zinc finger protein 177 1580863 8661005,15489334,12477932,11549323 7730 NM_003451,AC011451,CH471106,BC012012,BC034489,U37251,U37263 NP_003442,EAW84031,AAH12012,AAB09748,AAB09749,Q13360,ABZ92255 Hs.172979 GDB:636181 PIGX protein-coding 1351304 ZNF178 zinc finger protein 178 7731 GDB:636849 68995 ZNF179 zinc finger protein 179 This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. 61520,1580863 8660987,12477932,10574464,9806830,9096764,8889548 61520 7732 NM_007148,AC004448,AF054587,CH471212,AB026054,AI952967,AK226052,BC038896,BC053989,BE297851,BM973713 NP_009079,AAC08584,EAW50891,EAW50892,BAA84698,AAH53989,Q7Z5V9,Q9ULX5,ABZ92256 Hs.189482 GDB:676458 BFP|RNF112 protein-coding 1312982 ZNF18 zinc finger protein 18 15489334,14702039,12477932,2288909,2014798,16120570,15702252 7566 NM_144680,AC005410,CH471108,AK057783,AK092656,AK127908,AY491053,BC036096,CR591820,X52342 NP_653281,EAW89977,BAB71570,BAC03939,AAS67595,AAH36096,CAA36568,P17022,Q96LU8,ABZ92437 Hs.370473 GDB:125325 HDSG1|KOX11|ZKSCAN6|ZNF535|Zfp535 zinc finger protein 18 (kox 11) protein-coding 1348239 ZNF180 zinc finger protein 180 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM] 1580863 15057824,14702039,12743021,12477932,8914611 7733 NM_013256,AC069278,CH471126,AF192913,AK024047,AK122688,BC033642,BC051903,BC113015 NP_037388,AAF71790,EAW57274,EAW57275,EAW57276,EAW57277,EAW57278,EAW57279,AAF07950,AAH33642,AAI13016,Q58F03,Q9UJW8,ABZ92257 Hs.130683 GDB:686366 HHZ168 protein-coding 1350016 ZNF181 zinc finger protein 181 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM] 15489334,12477932,8914611 339318 NM_001029997,AC020910,BC043228,BC104759,CR624408 NP_001025168,AAH43228,AAI04760,Q2M3W8 Hs.659191 GDB:686367 HHZ181|MGC44316 zinc finger protein 181 (hhz181) protein-coding 1353048 ZNF182 zinc finger protein 182 (HHZ150) 7735 GDB:686368 1342789 ZNF182 zinc finger protein 182 1580863 14702039,12477932,8914609,8088786,2288909,2014798,15489334,15146197 7569 Z98304,AK097687,AK122874,AK130362,AW291763,BC106875,BC114216,BX537686,BX648401,CD642892,CN311292,X52345,NM_001007088,NM_006962,CH471164 CAA36571,P17025,Q96QH7,ABZ92249,EAW59336,CAC41951,AAI06876,AAI14217,NP_001007089,NP_008893,EAW59334,EAW59335 Hs.189690 GDB:125328 HHZ150|KOX14|MGC125383|MGC131713|ZNF21|Zfp182|znf21 zinc finger protein 21 (kox 14) protein-coding 1347344 ZNF182L zinc finger protein 182-like (HHZ150) 7736 GDB:686369 1312451 ZNF184 zinc finger protein 184 1580863 9073517,14702039,12477932 7738 NM_007149,AL021918,AL031118,CH471081,AK123011,AK131264,BC022992,U66561 NP_009080,CAA17278,EAX03099,EAX03100,BAD18442,AAH22992,AAC51180,Q6ZND3,Q99676,ABZ92258 Hs.158174 GDB:4642790 protein-coding 1352809 ZNF185 zinc finger protein 185 (LIM domain) ZNF185 encodes a LIM-domain zinc finger protein. These proteins are thought to be involved in protein-protein interactions.[supplied by OMIM] 1580863 9268636,16799630,15731117,14702039,12873976,10854409 7739 NM_007150,CH471172,AK056517,AK095258,AY997296,BQ923456,BX537525,BX640940,Y09538 NP_009081,EAW72893,EAW72894,EAW72895,EAW72896,BAC04511,AAY54245,CAD97773,CAE45970,CAA70733,O15231,Q6MZQ8,Q7Z3Q8,Q8N1R8 Hs.16622 GDB:4645353 protein-coding 1345585 ZNF187 zinc finger protein 187 1580863 1569959,16344560,14702039,12477932 7741 NM_001023560,NM_152736,NM_001111039,AL021997,CH471081,AJ420533,AK095948,AL526328,AL832741,BC013951,BC013962,BX537535,CR612460,CR613008,CR616851,CR618009,DA167287,DA566660,DC353668,Z11773 NP_001018854,NP_689949,NP_001104509,EAX03147,EAX03148,EAX03149,EAX03150,CAI46119,AAH13951,AAH13962,CAD97775,CAA77818,Q16670,ABZ92450 Hs.157883 GDB:5215171 MGC2815|SRE-ZBP|ZSCAN26 protein-coding 1344066 ZNF187P1 zinc finger protein 187 pseudogene 1 387050 1348960 ZNF188 zinc finger protein 188 7742 GDB:5215172 1315167 ZNF189 zinc finger protein 189 1580863 9653648,15489334,15164053,12477932,10415338,8889548 7743 U95992,NM_197977,NM_003452,AF025772,AL353621,CH471105,AF025770,AF025771,AK290163,AL046790,BC065718,BC092425,BC126120,BM820380,BM996467,BX497070,BX497641,CB162392,CB851970,CD518756,U75454,U95991 AAC25910,O75820,Q5T7D7,Q5T7D8,NP_932094,NP_003443,AAD50527,AAD50528,CAI14611,CAI14612,CAI14613,EAW58949,EAW58950,AAC39799,AAC39800,BAF82852,AAH92425,AAI26121,AAC39798,AAC25909 Hs.50123 GDB:5215207 protein-coding 1349877 ZNF19 zinc finger protein 19 The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. 1580863 7557990,16344560,15489334,14702039,12477932,8889548,2288909,1946370,1505991 7567 P17023,Q8NDE2,Q96M79,Q96NE5 NM_006961,AC010547,CH471166,M77171,AK055567,AK057330,AL834237,BC047091,BC048974,BM981699,DB079697,X52343 NP_008892,EAW59232,AAA36814,BAB70957,BAB71430,CAD38915,AAH47091,AAH48974,CAA36569,P17023,Q8NDE2,Q96M79,Q96NE5 Hs.656643,Hs.660076 GDB:125326 KOX12|MGC51021 protein-coding 1319074 ZNF192 zinc finger protein 192 1580863 10567577,15489334,14574404,12477932,10737800,9244436,8673473 7745 NM_006298,AL358933,CH471081,U88078,U88079,U88080,AA453245,AB208793,BC096282,BC096283,BC096284,BC113961,BC130032,BC152378,BQ327604,U57796 NP_006289,CAC15901,EAX03135,EAX03136,AAC51656,BAD92030,AAH96282,AAH96283,AAH96284,AAI13962,AAI30033,AAI52379,AAB02260,Q15776,Q59HG5 Hs.57679 GDB:5885419 LD5-1|ZKSCAN8 protein-coding 1347085 ZNF193 zinc finger protein 193 1580863 10567577,16189514,15489334,14574404,12477932,9373149,9244436,8125298 7746 NM_006299,AL022393,CH471081,U88081,U88082,AK226035,AY261373,AY550973,BC010374,CR619676,U62392 NP_006290,CAA18533,EAX03140,EAX03141,AAC51661,AAP94876,AAT52219,AAH10374,AAC51659,O15535,Q2TTR1,ABZ92451 Hs.100921 GDB:5885421 PRD51|ZSCAN9 protein-coding 1350446 ZNF194 zinc finger protein 194 7747 GDB:6065049 1352529 ZNF195 zinc finger protein 195 1580863 9344677,16344560,14702039,12477932,7959730,1602151 7748 AC123788,CH471158,AB209664,AF003540,AK095720,AK131296,AK290099,AL833722,BC121028,BC121029,DA765121,NM_007152 NP_009083,EAX02548,EAX02549,BAD92901,AAB86596,BAD18466,BAF82788,CAH56261,AAI21029,AAI21030,O14628,Q0VAJ6,Q59EZ7,Q658N8,Q6ZNA9 Hs.386294 GDB:6382648 DKFZp666D035 protein-coding 1350640 ZNF196 zinc finger protein 196 7749 GDB:6382649 1353796 ZNF197 zinc finger protein 197 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Two alternatively spliced transcripts encoding different isoforms have been described. 1580863 8353497,12682018,12477932,9380504,7814019 10168 NM_001024855,NM_006991,AC099669,CH471055,AF011573,AY074878,AY261677,AY279353,BC017584,BC031209,CR610755,CR624024,L32163,Z21707 NP_001020026,NP_008922,EAW64714,AAB84385,AAL79677,AAP57399,AAQ62850,AAH17584,AAH31209,AAA36817,CAA79814,O14709,Q07644,Q15917,Q4G1C8,Q6PIQ2,Q7Z6G1,Q86VG0 Hs.157035 GDB:9958925 D3S1363E|P18|VHLaK|ZKSCAN9|ZNF166|ZNF20 protein-coding 1348645 ZNF199 zinc finger protein 199 7751 GDB:9060998 1320138 ZNF2 zinc finger protein 2 1580863 1945843,15815621,15489334,14702039,12477932,10575230,8183940 7549 AK315829,BC005068,BC009976,CR622702,CR749650,X60152,X60154,NM_021088,NM_001017396,AC092835,CH471219,AK055072,AK290798 BAF83487,BAF98720,AAH05068,AAH09976,CAH18444,CAB52138,Q68CY6,Q9BSG1,NP_066574,NP_001017396,AAX88982,EAX10715,EAX10716 Hs.590916 GDB:120505 A1-5|ZNF661|Zfp661 zinc finger protein 2 (a1-5) protein-coding 1349406 ZNF20 zinc finger protein 20 1580863 16344560,14702039,12697996,12477932,8262519,2288909,10567577 7568 P17024,Q86XA2,Q8N457,Q9H942 CH471106,AK023094,AK096560,AL080125,AU152520,BC036714,BC045814,X52344,NM_021143,AC022415 EAW84260,BAB14401,CAB45723,AAH36714,AAH45814,CAA36570,P17024,Q86XA2,Q8N457,Q9H942,NP_066966 Hs.512823 GDB:125327 FLJ39241|KOX13 zinc finger protein 20 (kox 13) protein-coding 1349966 ZNF200 zinc finger protein 200 1580863 17584299,14702039,12477932,9787081,9653642,9288094 7752 NM_198088,NM_198087,AJ003147,CH471112,AF060866,AK056010,BC012909,BC025293,BC032575,BC054005,BI459882,BI822625,BU177850,CD697565,CR609782,Y14443,NM_003454 NP_003445,NP_932354,NP_932353,CAA05905,EAW85384,EAW85385,EAW85386,EAW85387,EAW85388,EAW85389,AAC70008,AAH12909,AAH25293,AAH32575,AAH54005,CAA74795,P98182,Q5XKM5,Q7Z5V1,ABZ92259 Hs.632222 GDB:6860477 MGC45293 protein-coding 1353784 ZNF202 zinc finger protein 202 1580863 10748193,9790754,16467280,16415175,16289551,15489334,14702039,12477932,12444922,11279031,10747874,10508479,16189514 7753 NM_003455,AJ276177,AP000868,CH471065,DQ093962,AF027218,AF027219,AF155101,AK023751,AK226047,AL162031,BC013382 NP_003446,CAC21447,EAW67553,EAW67554,AAY88738,AAC79940,AAC79941,AAD42867,CAB82384,AAH13382,O95125,Q9Y5A5 Hs.112556 GDB:9083508 ZKSCAN10 protein-coding 1347057 ZNF204 zinc finger protein 204 (pseudogene) 12477932,9628832 7754 NR_002722,AL021808,AL031118,CH471081,AF033199,AL833520,BC067282 EAX03093,CAI56717,Q5DTE4 Hs.8198 GDB:9579469 pseudo 1312095 ZNF205 zinc finger protein 205 1580863 9787081,16713569,16189514,15489334,12477932 7755 AC108134,CH471112,AF060865,BC002810,BI826058,BM924902,CB152017,CR623188,NM_003456,NM_001042428 EAW85396,EAW85397,EAW85398,EAW85399,EAW85400,EAW85401,AAC70007,AAH02810,O95201,NP_003447,NP_001035893 Hs.592088 GDB:9785814 ZNF210|Zfp13 protein-coding 1317710 ZNF207 zinc finger protein 207 1580863 9799612,15635413,15489334,15146197,12477932,12840049 7756 NM_001098507,NM_001032293,NM_003457,AC005899,AC026620,AC090616,AC116407,CH471147,AB209215,AF046001,AI308956,AK226172,AK291801,AL834501,BC000962,BC002372,BC008023,BT007365,CN276833,CR616570,CR617272,CR617452 NP_001091977,NP_001027464,NP_003448,EAW80231,EAW80232,EAW80233,EAW80234,EAW80235,EAW80236,EAW80237,BAD92452,AAC78561,BAF84490,CAD39159,AAH02372,AAH08023,AAP36029,O43670,Q53XS9,Q59G94,Q8N395 Hs.706835 GDB:9834326 DKFZp761N202 protein-coding 1350011 ZNF208 zinc finger protein 208 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions. For further description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM] 1580863 9724325,15469996,15057824,14702039,12477932 7757 NM_007153,AC003973,CH471106,AK096236,BC038199,CB997649 NP_009084,AAB94784,EAW84911,EAW84912,EAW84913,O43345 Hs.660982 GDB:9834725 PMIDP|ZNF95 protein-coding 1346858 ZNF209 zinc finger protein 209 (pseudogene) 9724325 7758 AC004004 GDB:9834726 pseudo 1351945 ZNF211 zinc finger protein 211 1580863 12477932,9096115,7633419 10520 NM_006385,NM_198855,AC003682,CH471135,AB209273,AB209847,AK026941,AL559417,BC018138,BC034351,BC089440,BC110856,CR596216,U38904 NP_006376,NP_942152,EAW72520,EAW72521,EAW72522,BAD92510,BAD93084,AAH34351,AAH89440,AAI10857,AAA93261,Q05BQ7,Q13398,Q2TAL7,Q59EG4,Q59G36,Q5EBL6 Hs.590977 GDB:9957546 C2H2-25|CH2H2-25|MGC131841|ZNF-25|ZNFC25 protein-coding 1317263 ZNF212 zinc finger protein 212 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. 1580863 18255255,7633419,15489334,12853948,12690205,12477932,9847074,9169157 7988 NM_012256,AACC02000041,AC004890,CH471146,AK074821,BC022785,U38864 NP_036388,EAL24431,AAD45826,EAW80053,EAW80054,AAH22785,AAC51296,Q9UDV6,ABZ92267 Hs.490510 GDB:9956417 C2H2-150|MGC9707|ZNF182|ZNFC150 protein-coding 1314237 ZNF213 zinc finger protein 213 C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM] 1580863 15489334,14702039,12477932,10023065,9653642 7760 NM_004220,AC108134,CH471112,AF017433,AK055337,AK289834,AK291789,BC007287,BC007598,BC012772,BC080572 NP_004211,EAW85393,EAW85394,AAB70531,BAF82523,BAF84478,AAH07287,O14771 Hs.115284 GDB:9836336 CR53|ZKSCAN21 protein-coding 1349128 ZNF214 zinc finger protein 214 1580863 10762538,16344560,7959730 7761 NM_013249,AC100875,CH471064,AA678604,AF056617,BC136772,DB262997 NP_037381,EAW68669,AAF00004,AAI36773,Q9UL59 Hs.445849 GDB:9836337 BAZ1 protein-coding 1344334 ZNF215 zinc finger protein 215 1580863 10762538,12477932,7959730 7762 NM_013250,AC090160,CH471064,AF056618,BC014538,BX117423,CN483744 NP_037382,EAW68671,AAF00005,AAH14538,Q96C84,Q9UL58 Hs.523457 GDB:9836338 BAZ2|ZKSCAN11 protein-coding 1318226 ZNF217 zinc finger protein 217 1580863 9671742,17572303,17130829,16940172,16203743,15756435,15489334,15302935,12845628,12493763,12477932,11780052,11245413,8134364 7764 NM_006526,AL157838,CH471077,AF041259,AK290350,BC039055,BC113427,CR598126 NP_006517,CAC08433,CAC32858,EAW75578,EAW75579,EAW75580,EAW75581,AAC39895,BAF83039,AAI13428,O75362,Q9BZ31 Hs.155040,Hs.612006 GDB:9864503 ZABC1 protein-coding 1347695 ZNF219 zinc finger protein 219 1580863 10819330,17081983,16344560,15489334,14702039,14621294,14611647,12477932,9373149,8125298 51222 NM_001102454,NM_001101672,NM_016423,AL161668,CH471078,AB015427,AK056261,AK225811,AK290700,BC000694,BC036105,BT006956,CB152705,CR610917,DA013397,DC358466 NP_001095924,NP_001095142,NP_057507,EAW66404,EAW66405,EAW66406,EAW66407,BAA90526,BAF83389,AAH00694,AAH36105,AAP35602,Q53Y57,Q9P2Y4 Hs.250493 GDB:10796846 ZFP219 protein-coding 1318379 ZNF22 zinc finger protein 22 (KOX 15) 1580863 2014798,1639412,1505991,1421376,12477932,2288909,1946370,14630903,15489334 7570 NM_006963,AL353801,AY137767,CH471160,M77172,AK291508,BC010642,BC026193,BC041139,BC053687,BT009806,CR602041,S50223,X52346 NP_008894,CAI13068,AAN15804,EAW86632,EAW86633,AAA36815,BAF84197,AAH10642,AAH41139,AAH53687,AAP88808,AAB24264,CAA36572,P17026,Q5T741 Hs.462693,Hs.655124 GDB:125329 HKR-T1|KOX15|ZNF422|Zfp422 protein-coding 1347890 ZNF221 zinc finger protein 221 1580863 15489334,15057824,12743021,12477932,10449920 7638 BC113426,NM_013359,AC006213,AC035150,CH471126,AF187987,BC111981 AAI13427,Q9UK13,ABZ92253,NP_037491,AAF63029,EAW57237,AAF04103,AAI11982 Hs.631598 GDB:9864507 MGC138186|MGC141986 protein-coding 1345369 ZNF222 zinc finger protein 222 1580863 15057824,14702039,12743021,12477932,1559709 7673 Q02387,Q8N6G7,Q9UK12 NM_013360,AC067968,CH471126,AF187988,M67508,AK095196,BC030261 NP_037492,AAF66075,EAW57242,Q02387,Q8N6G7,Q9UK12,AAF04104,EAW57243,EAW57244,AAA36132,AAH30261 Hs.279840 GDB:9864508 protein-coding 1353320 ZNF223 zinc finger protein 223 1580863 10449920,12743021,12477932,8617494 7766 NM_013361,AC084219,AC092072,CH471126,U46189,AF187989,AK292327,BC022466,DR761157 NP_037493,AAG23844,EAW57245,EAW57246,EAW57247,EAW57248,AAB03531,AAF04105,BAF85016,AAH22466,Q15736,Q8TBJ3,Q9HCA9,Q9UK11,ABZ92261 Hs.279840 GDB:9864509 protein-coding 1350705 ZNF224 zinc finger protein 224 1580863 17900823,15489334,15302935,12743021,12527367,12477932,12239212,10585455,2288909 7767 NM_013398,AC021092,AC084219,AC114266,CH471126,AF067164,AF187990,AK292500,AY148489,BC002889,BC051902,X52353 NP_037530,AAF24968,AAG23845,EAW57250,EAW57251,EAW57252,EAW57253,EAW57254,AAD32448,AAF04106,BAF85189,AAN61121,AAH02889,AAH51902,CAA36579,Q9BU51,Q9HCA8,Q9NZL3,ABZ92262 Hs.585869,Hs.590967 GDB:9864510 BMZF-2|BMZF2|KOX22|ZNF255|ZNF27 protein-coding 1346174 ZNF225 zinc finger protein 225 1580863 16344560,15489334,15057824,12743021,12477932,10737800,9373149,8125298 7768 NM_013362,AC021092,AC074331,CH471126,AF027138,AF187991,AK223477,AK292437,BC108912,BQ373092,CR615158,DA537943 NP_037494,AAF24967,AAF88105,EAW57255,AAB84017,AAF04107,BAD97197,BAF85126,AAI08913,O14883,Q9UK10 Hs.279567 GDB:9864511 MGC119735 protein-coding 1343710 ZNF226 zinc finger protein 226 1580863 15489334,15057824,14702039,12743021,12477932 7769 NM_001032374,NM_015919,NM_001032372,NM_001032375,AC074331,AC138470,CH471126,AF024707,AF070666,AF228418,AF246126,AK023091,BC017786,BC024197,BI457780,BX091242,BX537487,BX648775,CD700800,CF596130,H85374,H96353,NM_001032373 NP_001027545,NP_001027546,NP_057003,NP_001027544,NP_001027547,AAF88103,EAW57258,EAW57259,EAW57260,AAB81097,AAD20972,AAF34786,AAF76875,BAB14398,AAH17786,AAH24197,O14859,Q8WWE6,Q9NR94,Q9NYT6,Q9Y2R1,ABZ92263 Hs.145956 GDB:9864512 protein-coding 1351628 ZNF227 zinc finger protein 227 16582619,15489334,14702039,12743021,12477932,7865130 7770 NM_182490,AC074331,AC138470,CH471126,AK092253,AL833012,AY166786,AY500355,BC047570 NP_872296,AAF88107,EAW57261,EAW57262,CAH56268,AAO45835,AAS55105,AAH47570,Q658S5,Q6RFS3,Q86WM4,Q86WZ6,Q9NS43 Hs.371335 GDB:9864513 protein-coding 1313981 ZNF228 zinc finger protein 228 1580863 16344560,15057824,14702039,12743021,12477932 7771 BC117223,DB288887,NM_013380,NM_001083335,AC084239,AC138473,CH471126,AA449338,AA913353,AF198358,AK023099,AK026230,AK130371,AL122078,AU130692,BC101753 AAI17224,Q0VG01,Q9UFH1,Q9UJU3,NP_037512,NP_001076804,AAG23968,EAW57268,EAW57269,AAF12816,CAB59253,AAI01754 Hs.48589 GDB:9864514 Zfp112 protein-coding 1348111 ZNF229 zinc finger protein 229 1580863 15057824,14702039,12743021 7772 NM_014518,AC084239,AC138473,AB209357,AF192979,AY166791,BC150612,CR936724,AK091541 NP_055333,AAG23970,BAD92594,AAF07964,BAC03689,AAO45840,AAI50613,Q8NB52,Q9UJW7 Hs.709348 GDB:9864515 FLJ34222 protein-coding 1316246 ZNF23 zinc finger protein 23 (KOX 16) 1580863 17137575,15489334,14702039,12477932,12127974,8500793,7865130,2288909 7571 O14861,P17027,Q6RFR6,Q7Z3R2,Q8NDP5,Q9BY29 AF226996,AF507946,AK091039,AL080123,AL833815,AY500362,BC007256,BT007400,BX537507,CR614408,X52347,NM_145911,AC010547,AF024709 AAB81099,AAK28321,AAM33359,CAB45722,CAD38678,AAS55112,AAH07256,AAP36064,CAD97769,CAA36573,O14861,P17027,Q6RFR6,Q7Z3R2,Q8NDP5,Q9BY29,NP_666016 Hs.656643 GDB:125330 KOX16|ZNF359|ZNF612|Zfp612 protein-coding 1343277 ZNF230 zinc finger protein 230 1580863 15952109,15640038,15489334,15057824,14702039,12743021,12477932,11672448 7773 NM_006300,AC006213,AC018725,AC067968,CH471126,AK056865,BC030810,BC050340,BC066950,BC094708,U95044 NP_006291,AAF18685,AAF66074,EAW57241,AAH50340,AAH94708,AAB62180,Q9UIE0,ABZ92264 Hs.193583 GDB:9864516 FDZF2 protein-coding 1351576 ZNF232 zinc finger protein 232 1580863 16189514,15489334,14702039,12477932,11311944,9373149,8125298 7775 AC012146,AF080169,AF080170,AF080171,CH471108,AK057506,AK225622,BC016039,BQ641476,CR592276,CR620901,Y15067,NM_014519 NP_055334,AAD46135,EAW90358,AAH16039,CAB95963,Q9UNY5,ABZ92452 Hs.279914 GDB:9864517 ZSCAN11 protein-coding 1353655 ZNF233 zinc finger protein 233 737633 14702039,12743021,12477932 737633 353355 NM_181756,AC074331,AC138470,CH471126,AK055310,AK095351,AY166792,BC047795 NP_861421,AAF88106,EAW57263,EAW57264,EAW57265,EAW57266,AAO45841,A6NK53,Q9NS42 Hs.466891 FLJ38032 protein-coding 1344990 ZNF234 zinc finger protein 234 1580863 15489334,12743021,12477932,7865130 10780 NM_006630,AC021092,AC074331,AC138470,CH471126,AF027142,AF027143,AF228417,AK289843,AY166787,AY166788,BC007303,X78927 NP_006621,AAF88104,EAW57256,EAW57257,AAB84021,AAB84022,AAF34785,BAF82532,AAO45836,AAO45837,AAH07303,CAA55527,O14887,O14888,Q14588,Q86WM2,Q86WM3 Hs.334586 GDB:9958274 HZF4|ZNF269 protein-coding 1350686 ZNF235 zinc finger protein 235 This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. 15489334,12477932,9570955,8617494,7865130 9310 NM_004234,AC084239,AC092477,AC138470,AC138473,CH471126,AF027513,AF027514,BC002663,BC002800,BC105807,BC117215,X78929 NP_004225,AAG23969,EAW57267,AAD12728,AAD12729,AAI05808,AAI17216,CAA55529,Q14590,Q3KRA4 Hs.298089,Hs.664229 GDB:9955982 ANF270|HZF6|ZFP93|ZNF270 protein-coding 1320136 ZNF236 zinc finger protein 236 1580863 12906866,10458916,9299475 7776 NM_007345,AC027575,AC093330,CH471117,AB208834,AF083213,AF085243,AF085244,BC140859,BX648028 NP_031371,EAW66587,BAD92071,AAC72200,AAD55328,AAD55329,AAI40860,O95276,Q59HC5,Q9NWI2,Q9UL36 Hs.189826 GDB:9864518 ZNF236A|ZNF236B protein-coding 1346592 ZNF238 zinc finger protein 238 C2H2-type zinc finger proteins, such as ZNF238, act on the molecular level as transcriptional activators or repressors and are involved in chromatin assembly.[supplied by OMIM] 1580863 9013868,9756912,9770450,16710414,15489334,12477932,11350943,10721697,9568537,7633419,7566098 10472 NM_205768,NM_006352,AJ223321,AL590483,CH471148,AJ001388,AK291408,AL050055,BC036677,BC078175,DC377579,T32155,U38896,X95072 NP_991331,NP_006343,CAA11262,CAH71954,EAW77097,EAW77098,EAW77099,CAA04718,BAF84097,AAH36677,AAA81368,CAA64468,Q99592,Q9UD99 Hs.69997 GDB:9957099 C2H2-171|RP58|TAZ-1|ZBTB18 protein-coding 1351594 ZNF239 zinc finger protein 239 MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM] 1580863 9121460,17760566,17081983,16344560,15489334,15057824,12477932,12409453,8903737,8587123 8187 NM_001099283,NM_001099284,NM_001099282,NM_005674,AL450326,CH471160,X82126,AK292013,BC026030,CR605759,DA686973,DA937379,X82125 NP_001092753,NP_001092754,NP_001092752,NP_005665,CAI15021,EAW86602,EAW86603,EAW86604,CAA57638,BAF84702,AAH26030,CAA57637,Q16600,ABZ92270 Hs.25040 GDB:5875363 HOK-2|MOK2 protein-coding 1344102 ZNF24 zinc finger protein 24 1580863 16169070,10585455,17270462,16189514,15592455,15561718,15489334,12477932,10567577,2288909,2004757 7572 NM_006965,AC116447,AF016052,CH471088,AF038964,AF542097,BC003566,BC016801,BT006658,CR450328,U68536,X52348 P17028,Q53YE4,Q6ICR5,Q8IZN4,CAA36574,NP_008896,AAB70216,EAX01348,EAX01349,EAX01350,AAD19827,AAN40767,AAH03566,AAH16801,AAP35304,CAG29324,AAB37275 Hs.591057 GDB:125331 KOX17|RSG-A|ZNF191|ZSCAN3|Zfp191 protein-coding 1342563 ZNF240 zinc finger protein 240 22968 GDB:9957791 1350286 ZNF241 zinc finger protein 241 22967 GDB:9957790 1354485 ZNF242 zinc finger protein 242 22966 GDB:9957789 1352424 ZNF243 zinc finger protein 243 22965 GDB:9957788 1347552 ZNF244 zinc finger protein 244 22964 GDB:9957787 1346616 ZNF245 zinc finger protein 245 22963 GDB:9957786 1342619 ZNF246 zinc finger protein 246 22962 GDB:9957785 1344707 ZNF247 zinc finger protein 247 22961 GDB:9957784 1349221 ZNF248 zinc finger protein 248 1580863 12566394,12477932 57209 NM_021045,AJ245586,AJ245587,AL135791,CH471072,AJ491695,AJ492196,AL049341,BC021819,BC110869,BC132915,BC132917,BC146820 NP_066383,CAB52478,CAB52547,EAW85896,EAW85897,EAW85898,EAW85899,CAD36954,CAD37332,AAH21819,AAI10870,AAI32916,AAI32918,AAI46821,Q05CR2,Q5TCN9,Q5TCP0,Q5TCP1,Q8NDV8,Q8NDW4,Q9UMP4 Hs.572001 GDB:9957783 KIAA0137|MGC131882|bA162G10.3 protein-coding 1350303 ZNF249 zinc finger protein 249 22959 GDB:9957771 1344079 ZNF25 zinc finger protein 25 1580863 15489334,14702039,12477932,10942432,8464732,2288909,1639412 219749 NM_145011,AL117337,CH471072,AJ491696,AK056452,AK056635,AK091378,AK122958,AL834125,AL834244,BC036038,CR600171,X52350 NP_659448,EAW85895,CAD36955,BAB71187,CAD38845,AAH36038,CAA36576,P17030,Q5W1A4,Q5W1A5,ABZ92547 Hs.499429 GDB:125332 DKFZp564C206|FLJ31890|KOX19|Zfp9 protein-coding 1349906 ZNF250 zinc finger protein 250 737633,1580863 16344560,16189514,15489334,14702039,12477932 737633 58500 NM_001109689,NM_021061,AF235103,CH471162,AB208810,AK054888,AK095705,BC017091,BC107579,BX648173,CA422363,DB206757,DB272357,DC314684,X16282 NP_001103159,NP_066405,EAW82029,EAW82030,EAW82031,EAW82032,BAD92047,BAC04614,AAH17091,AAI07580,CAA34358,P15622,Q3B7J8,Q59HE9 Hs.532277 GDB:9957770 MGC111123|MGC9718|ZFP647|ZNF647 protein-coding 1322438 ZNF251 zinc finger protein 251 1580863 16344560,15489334,14702039,12477932,8889548 90987 BC093984,BC112137,BU674002,BX509447,DA775010,DA811573,BC006258,NM_138367,AF186192,CH471162,AK000435,AK027286,AK091638 AAH06258,AAI12138,Q9BRH9,NP_612376,EAW82060 Hs.534516 GDB:9957769 FLJ34319 protein-coding 1345050 ZNF252 zinc finger protein 252 1580863 14702039,12477932 286101 XM_001714325,XM_001714728,XM_001714801,AF235103,AK027662,AK128723,BC019922,BC051730 XP_001714377,XP_001714780,XP_001714853,BAC87591,AAH19922,Q6ZQU2,Q8WUN3 Hs.646770,Hs.367856 GDB:9957768 protein-coding 1348327 ZNF253 zinc finger protein 253 1580863 10585455,12477932 56242 NM_021047,AC011477,CH471106,AF038951,AK074757,AK074872,BC014148,BC022891,BC053607,BC065572,BC125063,BC125064 NP_066385,EAW84863,EAW84864,AAC26844,BAC11185,BAC11257,AAH14148,AAH65572,AAI25064,AAI25065,O75346,Q0P6G3,Q6P0L2,Q8NCA3,Q8NCF9 Hs.659321 GDB:11501506 BMZF-1|BMZF1|FLJ90391|ZNF411 protein-coding 1350215 ZNF254 zinc finger protein 254 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 1298632,1580863 10585455,15489334,12477932,11042152,9653160 1298632 9534 NM_203282,AF054180,AK291286,AL832713,BC043147,BC044906,BC056243,BC139749,AC073534,AC092279,CH471106 NP_975011,EAW84961,AAC39913,BAF83975,AAH43147,AAH56243,AAI39750,O75437,Q7Z2R1,EAW84960 Hs.434406 GDB:9957273 BMZF-5|HD-ZNF1|ZNF539|ZNF91L protein-coding 1352745 ZNF256 zinc finger protein 256 1580863 15489334,12878157,12477932,10585455,18060868 10172 NM_005773,AC010326,CH471135,AF067165,AU280306,BC001438,BT006853,CD656453 NP_005764,EAW72544,AAD32449,AAH01438,AAP35499,Q53Y85,Q9Y2P7 Hs.596242 GDB:9955348 BMZF-3|BMZF3 protein-coding 1342555 ZNF257 zinc finger protein 257 1580863 10585455,14702039,12477932 113835 NM_033468,AC003973,AC011482,CH471106,AF070651,AK056694,BC020045,BC036446,BI553764 NP_258429,EAW84915,EAW84916,EAW84917,AAD20957,AAH36446,Q9Y2Q1,ABZ92090 Hs.283900 GDB:11501523 BMZF-4|BMZF4 protein-coding 1323503 ZNF259 zinc finger protein 259 1580863 9763455,8650580,17068332,16236267,15767679,15489334,12477932,12095920,10938113,9852145,16189514 8882 CR594434,CR621542,CR622469,CR626297,NM_003904,AP006216,CH471065,AF019767,BC004256,BC011929,BC012162,BC017349,BC017380,BC111028,BT006642,CR590018 O75312,NP_003895,EAW67267,EAW67268,AAC33514,AAH04256,AAH12162,AAH17349,AAH17380,AAI11029,AAP35288 Hs.591942 GDB:9957520 MGC110983|ZPR1 protein-coding 1349092 ZNF259P zinc finger protein 259, pseudogene 10729 Z95118 GDB:9958225 354J5 pseudo 1347458 ZNF26 zinc finger protein 26 15489334,14702039,12477932,9373149,8125298,2288909,2026422 7574 AK000762,AK122941,AK225296,AL833057,BC008211,BC046206,BT006963,X52351,NM_019591,AC073911,CH471218 BAA91367,CAH56341,AAH08211,AAH46206,AAP35609,CAA36577,P17031,Q658Q3,Q86X57,NP_062537,EAW54803,EAW54804 Hs.489608 GDB:125333 FLJ20755|KOX20 zinc finger protein 26 (kox 20) protein-coding 1606913 ZNF260 zinc finger protein 260 16166646,15489334,14702039,12477932,7829101 339324 NM_001012756,AC092295,AK122854,AK123830,AK291442,BC042676,BC119003,BC122549,BI493993,CR609031 NP_001012774,BAF84131,AAH42676,AAI19004,AAI22550,Q0VF43,Q3ZCT1 Hs.18103 ZFP260|ozrf1 protein-coding 1316415 ZNF263 zinc finger protein 263 1580863 16189514,9256059,15616553,15489334,12477932,8586417 10127 NM_005741,AC004232,CH471112,BC008805,CR602060,D88827 NP_005732,AAC24490,EAW85378,EAW85379,EAW85380,AAH08805,BAA21853,O14978 Hs.611475 GDB:9955280 FPM315|ZKSCAN12 protein-coding 1348682 ZNF264 zinc finger protein 264 1580863 16344560,16341674,15592455,15057824,14702039,12477932,11543637,9455477 9422 NM_003417,AC005261,AC025588,CH471135,AB007872,AK097167,AK292504,BC115410,BC115411,BF063192,BM739537,BQ020432,DA331461 NP_003408,EAW72483,EAW72484,BAA24842,BAF85193,AAI15411,AAI15412,O43296,Q14C61 Hs.515634 GDB:9956661 protein-coding 1352902 ZNF266 zinc finger protein 266 1580863 16628192,15489334,14702039,12477932,7865130 10781 NM_006631,AC011451,CH471106,AB095928,AK027480,AL533858,AL833471,AL833503,AY376240,BC017407,BC071628,BC112919,NM_198058,BC126255,BC146837,BQ015374,BX471437,BX472300,CR595020,X78924 NP_932175,NP_006622,EAW84033,EAW84034,EAW84035,EAW84036,BAC23104,BAB55142,AAQ82907,AAH17407,AAH71628,AAI12920,AAI26256,AAI46838,CAA55524,Q14584,ABZ92299 Hs.656185 GDB:9958275 HZF1 protein-coding 1343571 ZNF267 zinc finger protein 267 1580863 7865130,17081983,16054593,15814297,15592455,15489334,14702039,12477932,11121585 10308 NM_003414,AC034105,CH471192,AF220492,AK096390,AK292573,AL832123,BC036367,BC127088,BC127089,X78925 NP_003405,EAW52106,AAF73867,BAF85262,AAH36367,AAI27089,AAI27090,CAA55525,Q14586,ABZ92290 Hs.460645 GDB:9956246 HZF2 protein-coding 1347350 ZNF268 zinc finger protein 268 1580863 11311945,16865230,16787922,15547661,14702039,12822888,12477932,7865130 10795 NM_003415,AC026786,CH471218,AF141655,AF317549,AF385187,AF432217,AK027712,AY583691,BC058548,BC110542,X78926 NP_003406,EAW54786,EAW54787,EAW54788,EAW54789,AAG39638,AAG59817,AAK69307,AAL99923,AAI10543,CAA55526,Q14587,Q2TB61,Q8TDG8,Q9H337 Hs.183291,Hs.654533 GDB:9958293 HZF3|MGC126498 protein-coding 1349417 ZNF27 zinc finger protein 27 (KOX 22) 1580863 7575 P17033 X52353 GDB:125334 1344423 ZNF271 zinc finger protein 271 Zinc finger proteins interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 1580863 16344560,15489334,14702039,12477932,11777961,7865130 10778 NM_001112663,NM_006629,AC011815,AC116447,AF159567,AK023456,AK094216,BC004510,BC017710,BJ990003,BM992306,DA005750,DA179133,X78930 NP_006620,NP_001106133,AAD43569,AAH04510,AAH17710,CAA55530,Q14591,ABZ92298 Hs.314246 GDB:9958273 HZF7|ZNFEB protein-coding 1351261 ZNF273 zinc finger protein 273 This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. 1580863 16344560,15489334,14702039,12477932,9847074,7865130 10793 NR_003099,NM_021148,AC092161,CH471204,AK090648,AL832810,BC007078,BC008386,BC019234,BC041102,BC063818,BC108740,DA324061,DA807335,X78932 NP_066971,AAQ93371,AAQ93372,EAW77992,EAW77993,EAW77994,AAH08386,AAH19234,AAH63818,CAA55532,Q14593,Q75LP1,Q8WUX5,Q96HL5 Hs.520889 GDB:9958290 HZF9|MGC12518 protein-coding 1347715 ZNF274 zinc finger protein 274 This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. 1580863 10777669,10520746,16954381,15498874,15489334,14702039,12477932,10545116,9373149,8125298 10782 NM_016325,NM_016324,AC008751,AC020915,CH471135,AB029149,AB029150,AF275680,AF275681,AK022328,AK095162,AK222855,AK222878,NM_133502,BC009763,BT007304,BX641169,U71598 NP_598009,NP_057409,NP_057408,EAW72565,EAW72566,EAW72567,BAA88522,BAA88523,AAG24390,AAG24391,AAH09763,AAP35968,CAE46074,AAB16810,Q53GQ3,Q53XU4,Q6MZG1,Q96GC6 Hs.83761 GDB:9958276 DKFZp686K08243|FLJ37843|HFB101|ZF2|ZKSCAN19 protein-coding 1347058 ZNF275 zinc finger protein 275 1580863 14702039,12477932,10854409 10838 NM_001080485,AC152007,AC152008,AK122976,AK127133,AK172795,BC001545,BC018767,BC041602,AL833683 NP_001073954,Q9NSD4 Hs.348963 GDB:9958398 protein-coding 1316682 ZNF276 zinc finger protein 276 1580863 16713569,16344560,16189514,15489334,14702039,14605947,12477932,10936049 92822 NM_001113525,AC005360,AC010538,CH471184,AI283548,AK026482,AK056405,AK096004,AK096762,AK289801,AW179154,BC032781,NM_152287,BC038839,BC105959,BC107603,BC110348,BC111408,BM921035,BQ432535,BQ549716,CR620615,DA227038,DA891371 NP_689500,NP_001106997,EAW66687,EAW66688,EAW66689,EAW66690,EAW66691,EAW66692,EAW66693,BAF82490,AAH32781,AAI05960,AAI07604,AAI10349,AAI11409,Q3KR18,Q8N554,ABZ92087 Hs.290154 FLJ38685|FLJ77809|MGC111410|MGC126480|MGC45417|ZFP276|ZNF477 zinc finger protein 276 homolog (mouse) protein-coding 1353791 ZNF277 zinc finger protein 277 1580863 17353931,16713569,16395595,16344560,16213364,12853948,12690205,12477932,11597177,10860669 11179 AC004111,AC004112,AC087539,CH236947,CH471070,CS300564,AF209198,AF308819,NM_021994,AK027128,AL713791,BC020626,BG924796,CR600080,CR604080,CR605159,CR606452,DA285525,DB543718 NP_068834,AAS07413,AAS07407,AAS07408,EAL24376,EAW83457,EAW83458,EAW83459,EAW83460,EAW83461,CAK32228,AAF85941,AAL55819,CAD28546,AAH20626,Q75MZ1,Q75MZ2,Q75MZ3,Q8TCK8,Q8WWA6,Q8WY14,Q9NRM2 Hs.655904 GDB:9957046 NRIF4|ZNF277P zinc finger protein (c2h2 type) 277 protein-coding 1349173 ZNF279 zinc finger protein 279 10591208 23748 GDB:10795357 1352869 ZNF28 zinc finger protein 28 1580863 14702039,12477932,8262519,2288909 7576 P17035,Q5H9V1,Q6NSH2,Q8NB48 AC008813,CH471135,AK091553,AK092385,AK131368,AK131574,BX640767,CR933598,X52355,NM_006969,BC070146,BX485233,BX489697 NP_008900,EAW72097,EAW72098,BAC03693,BAD18519,BAD18706,CAI46258,CAI45923,Q6NSH2,CAA36581,P17035,Q5H9V1,AAH70146,Q8NB48 Hs.554778 GDB:125335 DKFZp781D0275|KOX24 zinc finger protein 28 (kox 24) protein-coding 1347609 ZNF280 zinc finger protein 280 10591208 23747 GDB:10795359 1342488 ZNF280A zinc finger protein 280A This gene was predicted both by automated computational analysis and by similarity to a Drosophila gene and to predicted genes in other species (sheep, chimp, dog, cow). The predicted protein of this gene is similar to Drosophila suppressor of hairy wing protein, a leucine zipper protein which represses the function of transcriptional enhancers of the gypsy retrotransposon. 1580863 15489334,14702039,12477932,10591208,9074928 129025 NM_080740,NG_000002,CH471095,D87009,D87011,AK093108,BC053901,BG473533 NP_542778,EAW59517,BAA20006,BAA20008,AAH53901,P59817 Hs.178665 GDB:11507980 3'OY11.1|SUHW1|ZNF280|ZNF636 protein-coding 1348223 ZNF280B zinc finger protein 280B This gene was identified by homology to other species. Its encoded protein is approximately 78-88% identical to a predicted sheep protein of unknown function. The protein is also approximately 25% identical to the Drosophila protein suppressor of hairy wing, which is a leucine zipper protein that represses the function of transcriptional enhancers of the gypsy retrotransposon. 1580863 15489334,15461802,14702039,12477932,10591208,9074928 140883 NM_080764,NG_000002,CH471095,D87009,AK097608,BC035376,BC040020,BC042370,CR456614 NP_542942,EAW59515,EAW59516,BAA20005,AAH40020,CAG30500,Q86YH2,CAK54642,CAK54941 Hs.43834 5'OY11.1|D87009.C22.3|SUHW2|ZNF279|ZNF632 protein-coding 1349297 ZNF280C zinc finger protein 280C 737633,1580863 15772651,15489334,14702039,12477932 737633 55609 NM_017666,AL023799,AL139234,CH471107,AK000102,AK290373,AL133204,AL834333,BC051728,CR603297 NP_060136,CAI42592,CAI42593,CAI42782,EAX11805,EAX11806,EAX11807,BAA90947,BAF83062,CAB61579,CAD39001,AAH51728,Q8ND82,Q9UJJ2 Hs.308418 FLJ20095|SUHW3|ZNF633 protein-coding 1323434 ZNF280D zinc finger protein 280D 737633 16381901,15489336,14702039,12477932,11230166,11076863,10997877,8889548 737633 54816 NM_001002843,NM_017661,NM_001002844,AC090517,AC090518,CH471082,AB046804,AK000093,AK025073,AK289739,AL136634,BC015382,BC040532,BC053649,BC064359,BC130451,BM795112,BU689457,BX640637,BX640707,BX641000 NP_001002843,NP_060131,NP_001002844,EAW77504,EAW77505,EAW77506,EAW77507,EAW77508,BAB13410,BAA90940,BAB15059,BAF82428,CAB66569,AAH15382,AAH53649,AAH64359,AAI30452,CAE45785,CAE45827,CAE46003,Q0JS94,Q0JVD2,Q6N043,Q7Z6J5,Q9H740,CAL37528,CAL38620 Hs.511477 MGC21637|MGC61687|SUHW4|ZNF634 protein-coding 1312996 ZNF281 zinc finger protein 281 1580863 10448078,15489334,14702039,12477932,10405178 23528 NM_012482,AC104461,CH471067,CQ834814,AF086540,AF125158,AJ132591,AJ132592,AK021707,AK022916,AK022921,AK027284,AK094701,BC051905,BC060820 NP_036614,EAW91313,CAH05622,AAD21084,CAB70967,CAB70968,AAH51905,AAH60820,Q5RKW5,Q9Y2X9 Hs.59757 GDB:10796099 FLJ12859|FLJ14378|ZBP-99|ZNP-99 protein-coding 1314806 ZNF282 zinc finger protein 282 1580863 9396811,15790807,15489334,12853948,12690205,12477932,8889548 8427 NM_003575,AACC02000041,CH471146,AY927504,AY927505,BC009542,BC031686,BC041704,BC055287,BC073805,BU731447,CR603646,CR615805,CR622305,CV573257,D30612 NP_003566,EAL24430,EAW80055,EAW80056,AAH31686,AAH41704,AAH55287,AAH73805,BAA24380,Q05BY5,Q7Z2V4,Q86YG2,Q9UDV7 Hs.657701 GDB:11501492 HUB1 protein-coding 1354182 ZNF283 zinc finger protein 283 1580863 14702039,12743021,7865130 284349 AK098175,AY166784,AY500359,AY500364,BC045755,DC324604,DC384756,NM_181845,AC011508 BAC05251,AAO45833,AAS55109,AAS55114,AAH45755,Q4G0N1,Q6RFR4,Q6RFR9,Q86WM6,Q8N7M2,NP_862828 Hs.652513 GDB:10795868 HZF41 protein-coding 1345575 ZNF284 zinc finger protein 284 16817023,12743021 342909 NM_001037813,AC084219,AY166789,AY458845,CR936662 NP_001032902,AAO45838,AAS13443,Q2VY69,AAI56664 Hs.445395 GDB:10795869 DKFZp781F1775|ZNF284L protein-coding 1342926 ZNF285A zinc finger protein 285A 1580863 16344560,14702039,12743021,12477932 26974 NM_152354,AC138473,CH471126,AK055309,AL833447,AY166790,BC069384,BC074824,BC074875,BC117300,BC117302,BF343511,BM987858,DA949487 NP_689567,EAW57270,EAW57271,EAW57272,BAB70901,AAO45839,AAH69384,AAH74824,AAH74875,AAI17301,AAI17303,Q17RJ3,Q6B0D6,Q86WM0,Q96NJ3 Hs.48589 GDB:10795870 FLJ30747|ZNF285 zinc finger protein 285 protein-coding 1350825 ZNF286A zinc finger protein 286A 1580863 14702039,12477932,12168954,11347906 57335 AC005324,AB058777,AF086305,AF217226,AK021478,AK055651,AK092259,BC015730,BC025260,BC128259,BC128411,NM_020652 NP_065703,BAB47503,AAG09701,AAI28260,AAI28412,Q9HBT8 Hs.585799,Hs.659318,Hs.660199 GDB:11508187 KIAA1874|MGC149627|MGC156181|ZNF286 zinc finger protein 286 protein-coding 1318494 ZNF287 zinc finger protein 287 This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. 1580863 15489334,12477932,11137451,11021307 57336 NM_020653,AC127540,CH471222,AF027140,AF217227,AL359578,BC032002,BC041159,BC057791,BC101487,BC113363,CR457194 NP_065704,EAX04518,AAB84019,AAG09702,AAH57791,AAI01488,AAI13364,CAG33475,O14885,Q6PEZ3,Q9HBT7,ABZ92027 Hs.99724 GDB:11508189 MGC126536|MGC141923|ZKSCAN13 protein-coding 1314646 ZNF289 zinc finger protein 289, ID1 regulated 1580863 16903783,15489334,14702039,12880961,12477932,11278321 84364 NM_032389,AC090589,CH471064,AB073358,AK027482,AK098324,AK129511,AL834337,BC030148,BC036823,CR592151,CR598905,CR614461,CR624720 NP_115765,EAW67963,EAW67964,EAW67965,EAW67966,EAW67967,EAW67968,BAE45716,BAB55144,CAD39004,AAH30148,Q8N6H7 Hs.436204 GDB:11508191 FLJ14576|FLJ26000|IRZ|Nbla10535|Zfp289 protein-coding 1350738 ZNF29 zinc finger protein 29 pseudogene 1580863 2288909 7577 AC005324,AC018989,X52357,NG_007542 CAA36583,P17037 GDB:125336 KOX26|ZNF29P zinc finger protein 29 (kox 26) pseudo 1354082 ZNF292 zinc finger protein 292 1580863 16344560,16303260,16112646,14702039,12477932,10687855,9628581 23036 NM_015021,AL139274,CH471051,AB011102,AB075508,AK023626,AK023712,AK123473,AK127835,AL832366,AY684300,BC016386,BC040712,BC043168,BC063594,BX537746,DA329523 NP_055836,CAH73308,EAW48607,BAA25456,BAE45755,BAB14622,BAB14654,BAC85621,BAC87155,AAV86070,AAH63594,CAD97823,O60281,Q3LIB3,Q3MN16,Q5W0B2,Q6P495,Q6ZS01,Q6ZW83,Q7Z3L7 Hs.590890,Hs.656621 GDB:9954709 FLJ13564|FLJ41479|KIAA0530|Nbla00365|ZFP292|ZN-16|Zn-15|bA393I2.3 protein-coding 1322590 ZNF294 zinc finger protein 294 1580863 14702039,12477932,10830953,9872452 26046 AF161350,AK001915,AK023499,BC007525,BC029371,BC031633,BC045726,BC140790,BC150284,BF059116,NM_015565,AF129075,AF260011,AL163248,AL163249,CH471079,AB018257 AAF28910,BAA91976,BAB14589,AAH29371,AAI40791,AAI50285,O94822,Q05C47,NP_056380,CAB90429,CAB90430,EAX09935,EAX09936,EAX09937,BAA34434 Hs.288773 GDB:10796233 C21orf10|C21orf98|FLJ11053|KIAA0714|RNF160 protein-coding 1321974 ZNF295 zinc finger protein 295 1580863 17081983,15629158,15489334,15342556,15302935,12477932,12107410,10830953,10574462,15324660 49854 NM_001098402,NM_001098403,AP001619,AP001620,AP001745,CH471079,AB033053,AB041014,AB041015,AB190372,AB190373,AB190374,AI291220,NM_020727,AL562200,BC063290,BI767542,BM893936,BP230048,CA397608,CR594540,CR610383,CR933655,H86035 NP_065778,NP_001091872,NP_001091873,BAA95529,EAX09579,EAX09580,EAX09581,BAA86541,BAD74063,BAD74064,BAD86526,BAD86527,BAD86528,AAH63290,CAI45954,Q5H9S0,Q5KS07,Q5R2W1,Q5R2W2,Q9ULJ3 Hs.434947,Hs.618406 GDB:10796234 DKFZp781N1974|ZBTB21 protein-coding 1349456 ZNF296 zinc finger protein 296 49853 GDB:10796235 1354213 ZNF299 zinc finger protein 299 8034323 89767 X73895 GDB:10796471 protein-coding 1352271 ZNF299P zinc finger protein 299 pseudogene 10830953 54012 NG_000898,AP001116,AP001686 GDB:10796473 pseudo 1348770 ZNF3 zinc finger protein 3 1580863 18255255,2288909,16344560,15489334,14702039,12690205,12477932,3380682,1945843 7551 NM_017715,NM_032924,AC073842,AC093619,CH236956,CH471091,CS185617,AF027136,AF027139,AF193057,AF217988,AK000223,AK091984,BC008031,BC011887,BC013603,BC025265,BT006918,BX647182,CA439866,CR616475,DA443888,X07290,X52356,X60153 NP_060185,NP_116313,EAL23858,EAL23859,EAW76603,EAW76604,EAW76605,EAW76606,EAW76607,EAW76608,CAJ42798,AAB84015,AAB84018,AAG22485,AAG17231,BAA91019,AAH08031,AAH11887,AAH13603,AAH25265,AAP35564,CAH10562,CAA30269,CAA36582,CAB94195,O14881,O14884,P17036,Q6AWC6,Q86U76,Q8TB17,Q96HW0,Q9HBR4 Hs.435302 GDB:120506 A8-51|FLJ20216|HF.12|KOX25|PP838|Zfp113 zinc finger protein 3 (a8-51) protein-coding 1345379 ZNF30 zinc finger protein 30 1580863 16344560,12477932,2288909 90075 NM_001099438,NM_001099437,NM_194325,AC008555,AK000569,AK290435,BC113104,BC142996,BX640666,DA504398,DA554380,DC352784,X52359 NP_001092908,NP_001092907,NP_919306,BAF83124,AAI42997,CAE45802,CAA36585,P17039 Hs.112556,Hs.657402 GDB:125337 DKFZp686N19164|FLJ20562|KOX28 protein-coding 1349700 ZNF300 zinc finger protein 300 1580863 17541838,15489334,14746915,14702039,12477932 91975 NM_052860,AC010441,CH471062,AF395541,AK026949,AK095642,AK096465,BC032607,BC117248,CR597788,CR600345,DQ908918,CR933727 NP_443092,EAW61698,EAW61699,EAW61700,EAW61701,EAW61702,AAK83888,AAI17249,ABI81769,Q06DQ3,Q5H9N5,Q96RE9,CAI46270 Hs.134885 GDB:10796475 DKFZp686B24204 protein-coding 1353778 ZNF301 zinc finger protein 301 8034323 89769 X73897 GDB:10796477 ZF21-3 protein-coding 1351185 ZNF302 zinc finger protein 302 1580863 15489334,12477932,7865130 55900 NM_018443,NM_001012320,AC020910,AB209226,AF155656,AF190157,AF265236,AF326206,AI929099,AK074901,AK122855,AK131278,AL515741,AL833690,AL834318,AY251166,AY500357,BC024176,CR621737 NP_060913,NP_001012320,BAD92463,AAF67475,AAQ13701,AAF74775,AAK11224,BAC11279,CAD38987,AAP20063,AAS55107,AAH24176,Q59G83,Q658J3,Q6RFS1,Q6X7T3,Q7Z4B9,Q8NC84,Q9NR11 Hs.436350 GDB:11508193 HSD16|MST154|MSTP154|ZNF135L|ZNF140L|ZNF327 protein-coding 1352206 ZNF304 zinc finger protein 304 1580863 12477932,12051768 57343 NM_020657,AC005261,CH471135,AJ276316,BC111531,BC111532 NP_065708,EAW72493,EAW72494,CAC06610,AAI11532,AAI11533,Q2T9G7,Q2T9G8,Q9HCX3,ABZ92361 Hs.287374 GDB:10797003 MGC129703|MGC129704 protein-coding 1345152 ZNF309 zinc finger protein 309 404540 1604963 ZNF311 zinc finger protein 311 18309376,14574404,10520746 282890 AL662791,AL662865,AL929561,BX927167,CH471081,CR759835,CR759957,AK289881,AL833166,BC136745,NM_001010877,CR617585,U71600 NP_001010877,CAI18241,CAI41641,CAI41765,CAQ07641,EAX03178,CAQ08423,CAQ07347,BAF82570,AAI36746,AAB16812,Q5JNZ2,Q5JNZ3,Q9UJL4 Hs.148218 zf31 protein-coding 1349716 ZNF313 zinc finger protein 313 1580863 18364390,15489334,14702039,12621547,12477932,11780052,9110174,8619474 55905 CH471077,AF131742,AF265215,AK091976,AK097265,BC013695,BC066919,NM_018683,AL031685,BM830132,BT006795,BX640603,CR601634,CR620219,CR626018,CR626179 CAB46028,EAW75641,EAW75642,EAW75643,EAW75644,AAF75763,AAH13695,AAH66919,NP_061153,AAP35441,CAE45709,Q9Y508 Hs.144949 GDB:10796848 RNF114 protein-coding 1349986 ZNF314P zinc finger protein 314 pseudogene 394253 1344550 ZNF315P zinc finger protein 315 pseudogene 387030 1323214 ZNF316 zinc finger protein 316 389461 XM_371873 1345905 ZNF317 zinc finger protein 317 1580863 14702039,12477932,11688974,10997877 57693 NM_020933,AC011464,CH471106,AB046808,AF148135,AF275255,AF307096,AF307097,AK056570,AL834126,BC009367,BC078154 ABZ92367,NP_065984,EAW84010,EAW84011,EAW84012,EAW84013,EAW84014,EAW84015,BAB13414,AAL29182,AAL29188,AAL29190,AAL29191,AAH78154,Q6DCA9,Q96PQ6,Q9HCI4 Hs.465829 GDB:11508197 KIAA1588 protein-coding 1318587 ZNF318 zinc finger protein 318 17081983,16446156,15882980,15489334,15302935,14702039,14574404,12477932,10873617,9853615 24149 NM_014345,AL583834,AL590383,CH471081,AB015342,AF090114,AF121141,AK001200,AK025505,AK027061,BC030687,BC098434 NP_055160,CAI14459,CAH71374,EAX04179,BAA34799,AAD47387,AAD17298,AAH30687,AAH98434,Q5VUA4 Hs.509718 FLJ21852|HRIHFB2436|TZF|ZFP318 protein-coding 1314677 ZNF319 zinc finger protein 319 1580863 15489334,12477932,11161788,10718198 57567 NM_020807,AC010543,CH471092,AB037809,BC093919,BC101767 NP_065858,EAW82961,BAA92626,AAH93919,AAI01768,Q9P2F9,ABZ92364 Hs.129268 GDB:11510796 MGC126816|ZFP319 protein-coding 1350572 ZNF32 zinc finger protein 32 1580863 15489334,15164054,12477932,9475118,8500793,2288909,1946370 7580 NM_006973,NM_001005368,AL645634,CH471160,AI871265,BC022842,BG477527,BM127643,CB067143,CD367311,CR624115,CR626696,U69645,X52361 NP_008904,NP_001005368,EAW86609,EAW86610,EAW86611,AAH22842,AAB09561,CAA36587,P17041,ABZ92250 Hs.522885 GDB:125339 KOX30 zinc finger protein 32 (kox 30) protein-coding 1347022 ZNF320 zinc finger protein 320 11536051 117040 GDB:11499080 1605850 ZNF320 zinc finger protein 320 ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM] 14702039,12477932,11536051 162967 NM_207333,AC010487,CH471135,AF086262,AK054877,AK094328,AK095630,AK096348,AK129992,AL831902,BC064408,BC105738,BC131555,CR933622 NP_997216,EAW72101,EAW72102,BAC85270,CAD38570,AAI31556,CAI45933,A2RRD8,Q6ZP55 Hs.446907 GDB:11499080 DKFZp686G16228|ZFPL protein-coding 1350862 ZNF321 zinc finger protein 321 94100 GDB:11508199 1605491 ZNF321 zinc finger protein 321 14702039,12477932 399669 NM_203307,AC010487,CH471135,AK096828,BC046449,BC119627,BC119628 NP_976052,EAW72104,EAW72105,BAC04871,AAH46449,AAI19628,AAI19629,Q8N8H1 Hs.675715 GDB:11508199 DKFZp781C2298|FLJ39509|MGC35402 protein-coding 1347331 ZNF322A zinc finger protein 322A ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM] 15555580,15489334,14702039,12477932 79692 NM_024639,AL513548,CH471087,CS185637,AK027046,AK290038,AY376736,BC050425,BC074772,BC119669,BC139750 NP_078915,EAW55594,EAW55595,EAW55596,CAJ42818,BAB15637,BAF82727,AAQ85127,AAH50425,AAH74772,AAI19670,Q6U7Q0,ABZ92058 Hs.126280,Hs.530271 FLJ23393|HCG12|ZNF322|ZNF388|ZNF489|bA457M11.2|bA457M11.3 protein-coding 1350144 ZNF322B zinc finger protein 322B 15164053,12477932 387328 BC058829,BC070371,BC107578,NM_199005,AL590705 Q5SYY0,NP_945356,CAI14725 Hs.530271,Hs.648180 FLJ23393|ZNF322 protein-coding 1605639 ZNF323 zinc finger protein 323 ZNF323 is a member of the subfamily of C2H2 Kruppel-like zinc finger transcription factors that have a SCAN box domain (Pi et al., 2002 [PubMed 12147252]).[supplied by OMIM] 14702039,14574404,12477932,12147252,9373149,8125298 64288 NM_145909,NM_030899,AL021997,CH471081,AF513019,AK027060,AK057702,AK095261,AK225382,AL833416,AL833617,BC008490,BC065241 NP_665916,NP_112161,CAA17574,EAX03152,EAX03153,EAX03154,EAX03155,EAX03156,AAM47006,BAB15643,BAB71548,CAD38641,AAH08490,AAH65241,Q6P178,Q8N3P9,Q96LW9,Q96QL1,Q9H5I3,ABZ92202 Hs.656413 GDB:11508649 FLJ23407|ZNF20-Lp|ZNF310P|dJ874C20.2 protein-coding 1315356 ZNF324 zinc finger protein 324 1580863 17081983,14702039,12477932,11779640 25799 NM_014347,AC012313,CH471135,AF060503,AF075117,AK023989,AK092341,BC007717 NP_055162,EAW72594,EAW72595,EAW72596,AAC33716,BAB14758,AAH07717,O75467,Q96I98,Q9H861 Hs.515660 GDB:11508648 ZF5128|ZNF324A protein-coding 1603828 ZNF324B zinc finger protein 324B 14702039 388569 NM_207395,AC012313,CH471135,AK127750,AK131452,BC140881,BC140882,BX648711 NP_997278,EAW72593,BAC87113,BAD18597,AAI40882,AAI40883,CAH10556,Q6AW86 Hs.186970 FLJ45850 protein-coding 1346383 ZNF325 zinc finger protein 325 51711 Q9ULZ6 NM_016265,AB021643 GDB:11508647 1601703 ZNF326 zinc finger protein 326 16710414,16344560,15635413,15489334,12477932 284695 NM_182976,NM_182975,AL161797,AL391497,CH471097,AA857943,AK000410,BC013102,BC014899,BC038454,BC052645,BC053888,BC061521,BC070341,BC090866,BU521884,DB111509 NP_892021,NP_892020,CAH72230,EAW73125,EAW73126,EAW73127,EAW73128,AAH52645,AAH53888,AAH70341,AAH90866,Q5BKZ1 Hs.306221 GDB:11508651 FLJ20403|MGC61591|ZAN75|Zfp326|dJ871E2.1 protein-coding 1344348 ZNF328 zinc finger protein 328 64331 GDB:11508652 1348045 ZNF329 zinc finger protein 329 14702039,12477932 79673 NM_024620,AC008751,CH471135,AF085857,AK022648,AK090893,AK095349,AK096542,BC047501 NP_078896,EAW72560,EAW72561,EAW72562,EAW72563,BAB14154,AAH47501,Q86UD4,ABZ92057 Hs.458377 GDB:11508653 FLJ12586 protein-coding 1351199 ZNF32OS1 zinc finger protein 32 opposite strand 1 414197 AL645634 bA402L1.8 protein-coding 1346935 ZNF32OS2 zinc finger protein 32 opposite strand 2 414208 AL645634 b402L1.7 protein-coding 1316746 ZNF330 zinc finger protein 330 1580863 10593942,15231747,15592455,15489334,14702039,12477932,11528117,9373149,8125298 27309 BC004421,AC107220,AJ404873,CH471056,AJ006591,AK002106,AK223609,NM_014487 BAD97329,AAH04421,NP_055302,CAC18679,EAX05089,CAB43112,Q53EN0,Q9Y3S2 Hs.120766 GDB:11498987 HSA6591|NOA36 protein-coding 1344097 ZNF331 zinc finger protein 331 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form one family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 15147412,14702039,14610350,12477932,11267678,15489334,10502321,16344560 55422 NM_018555,NM_001079906,NM_001079907,AC011487,CH471135,AF086105,AF251515,AF272148,AF412398,AF412399,AF412400,AF412401,AF412402,AF412403,AF412404,AK075226,AK128736,BC009365,BC009433,BF057584,CR612880,CR749560,DA123838 NP_061025,NP_001073375,NP_001073376,EAW72144,EAW72145,EAW72146,EAW72147,EAW72148,AAF70179,AAF78075,AAQ03245,AAQ03246,AAQ03247,AAQ03248,AAQ03249,AAQ03250,AAQ03251,BAC11485,AAH09365,AAH09433,CAH18357,Q68D63,Q6PK05,Q71QC3,Q71QC4,Q71QC5,Q71QC6,Q71QC8,Q71QC9,Q8NBU2,Q9NQX6,ABZ92345 Hs.185674 DKFZp686L0787|RITA|ZNF361|ZNF463 protein-coding 1352601 ZNF333 zinc finger protein 333 1580863 15607024,14702039,12477932,12151103,11347906 84449 NM_032433,AC090427,CH471106,AB058709,AF372702,AK094028,AK095142,AK122817,AK123144,AK291471,AL832544,BC012344,BC048107,BC064571,BX647475,CR617489 NP_115809,EAW84442,EAW84443,BAB47435,AAM15528,BAF84160,AAH48107,AAH64571,CAI56712,Q5CZI3,Q6P2E6,Q86WS6,Q96JL9,AAI66674 Hs.515215 KIAA1806 protein-coding 1318499 ZNF334 zinc finger protein 334 1580863 16189514,15489334,14702039,12477932,11780052 55713 NM_199441,NM_018102,AL034424,AL354745,CH471077,AK001331,AK057717,AK095611,AL833936,BC024177,BC026321,BG720863,BG913079 NP_955473,NP_060572,CAI42502,EAW75732,EAW75733,EAW75734,EAW75735,BAA91630,CAD38791,AAH24177,AAH26321,Q5XKG8,Q8N3P8,Q9HCZ1,ABZ92348 Hs.584933 GDB:11508201 protein-coding 732123 ZNF335 zinc finger protein 335 The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. 1580863 18180299,15302935,14702039,12477932,12215545,11780052,10737800 63925 NM_022095,AL162458,CH471077,AF395833,AK026157,AK027358,AK054694,AK074214,AK092485,AK122963,BC041331,BC142981,BF755826 NP_071378,CAC10457,EAW75777,AAN09900,BAB15379,AAH41331,Q548D0,Q8IW09,Q9H4Z2,AAI66679 Hs.174193 GDB:11508203 NIF1 protein-coding 1354357 ZNF337 zinc finger protein 337 1580863 16189514,15489334,14702039,12477932,11780052 26152 NM_015655,AL031673,CH471133,AK056184,AK056466,AK125455,AK291235,AL049942,BC021298,BC034569,CR621860 NP_056470,CAB43548,EAX10077,EAX10078,BAC86169,BAF83924,CAB43216,AAH21298,Q6ZUQ0,Q9Y3M9 Hs.633621,Hs.661684 GDB:11508207 protein-coding 1351426 ZNF33A zinc finger protein 33A 1580863 16344560,15164054,12766061,12535642,12477932,8464732,7584044,2014798 7581 A0AUX1,Q05D89,Q06730,Q8N6F5,Q9H3I5,Q9H4Z7 BC030511,BC126119,CD679489,D31763,DB235703,X68687,NM_006974,NM_006954,AL117337,AL161931,CH471072,X68686,X68689,AF063599,AK027057,AY184389,BC017760 AAH17760,AAH30511,AAI26120,BAA06541,CAA48646,A0AUX1,Q05D89,Q06730,Q8N6F5,Q9H3I5,Q9H4Z7,NP_008905,NP_008885,CAH73315,CAH69953,EAW85888,EAW85889,EAW85890,EAW85891,EAW85892,EAW85893,EAW85894,CAA48645,CAA48648,AAG43158,BAB15642,AAO24702 Hs.435774 GDB:125318,GDB:125340 FLJ23404|KIAA0065|KOX2|KOX31|KOX5|NF11A|ZNF11|ZNF11A|ZNF33|ZZAPK zinc finger protein 33a (kox 31) protein-coding 1347257 ZNF33B zinc finger protein 33B 1580863 15489334,15164054,14702039,12566394,12477932,8464732,2288909,2014798,1639412 7582 NM_006955,AL022345,X68685,X68688,AJ491697,AK025638,AK096683,BC035770,BC036398,BC048313,BC065181,BC107726,BC109232,CR619942,X52333,X68684 NP_008886,CAI23623,CAA48644,CAA48647,CAD36956,AAH48313,AAH65181,AAI07727,CAA36559,CAA48643,Q06732,Q3B799,Q6P1A4 Hs.499453 GDB:128306,GDB:128492 FLJ23327|KOX2|KOX31|MGC129696|ZNF11B zinc finger protein 33b (kox 31) protein-coding 1343773 ZNF34 zinc finger protein 34 1580863 16381901,15489336,15489334,14702039,12477932,11230166,11076863,8104631,2014798 80778 NM_030580,AF235103,CH471162,AF086227,AK096508,AL833814,BC004480,BC028136 NP_085057,EAW82055,EAW82056,EAW82057,EAW82058,CAD38677,AAH04480,AAH28136,Q8IZ26,CAL37706 Hs.631854 GDB:125341 KOX32|MGC10520 zinc finger protein 34 (kox 32) protein-coding 1346802 ZNF341 zinc finger protein 341 1580863 15231748,14702039,12477932,11780052 84905 NM_032819,AL050349,CH471077,AK027550,AK095848,AK096755,AK122943,BC040440,BC063492,BC094738,BC132873,BC146811,BC157823,CR626376 NP_116208,CAI21796,EAW76295,EAW76296,EAW76297,BAB55193,AAH94738,AAI32874,AAI46812,AAI57824,Q504V9,Q9BYN7 Hs.516989 GDB:11508215 protein-coding 1343580 ZNF342 zinc finger protein 342 1580863 15489334,14633674,12477932,11063263 162979 NM_145288,AC011489,CH471126,AF447583,AY040679,BC019352 NP_660331,EAW57320,AAN76720,AAK84667,AAH19352,Q8IX33,Q8NEY2,Q8WUU4 Hs.192237 GDB:11508812 ZNF296 protein-coding 1344905 ZNF343 zinc finger protein 343 15489334,14702039,12477932,11780052 79175 NM_024325,AL049650,AL133339,CH471133,AK055734,AK096911,BC002897,BC011862,BC065009 NP_077301,EAX10594,EAX10595,BAB71000,BAC04892,AAH02897,AAH11862,AAH65009,Q6P1L6 Hs.516846 GDB:11508818 FLJ39592|MGC10715|MGC20504|dJ734P14.5 protein-coding 1350063 ZNF345 zinc finger protein 345 1580863 9278146,15489334,14702039,12477932,7865130 25850 NM_003419,AC008733,AC020928,AK094146,BC010386,BC032863,X78933 NP_003410,AAH32863,CAA55533,Q14585,ABZ92018 Hs.362324 GDB:11502431 HZF10 protein-coding 1317625 ZNF346 zinc finger protein 346 The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. 1580863 10488071,16381901,15489336,15489334,15254228,14702039,12477932,11230166,11076863 23567 NM_012279,AC027317,CH471195,AF083340,AK024650,AK026627,AK131469,AL359576,BC007775,CB988061,CR623080,CR749692 NP_036411,EAW85038,EAW85039,EAW85040,AAD52018,BAD18614,AAH07775,CAH18475,Q0JS71,Q9UL40,CAL37677,CAL38643 Hs.484259 DKFZp547M223|JAZ|Zfp346 protein-coding 1343280 ZNF347 zinc finger protein 347 1580863 14702039,12477932 84671 NM_032584,AC010328,AC092070,CH471135,AK095593,AK096623,AK289994,AL713691,AY029765,BC015611,BC002938 NP_115973,EAW72119,EAW72120,EAW72121,BAF82683,CAD28491,AAK37403,Q96SE7 Hs.467239 GDB:11508217 ZNF1111 protein-coding 1320503 ZNF35 zinc finger protein 35 1580863 1572646,2108922,15489334,15342556,12477932,7814019,3380682 7584 NM_003420,AC099669,AC124045,CH471055,L35269,BC013597,BC015892,BP237260,BT006962,X07289 NP_003411,EAW64715,EAW64716,AAA85451,AAH13597,AAP35608,CAA30268,P13682 Hs.288658 GDB:120507 HF.10|HF10|Zfp105 protein-coding 1342631 ZNF350 zinc finger protein 350 1580863 11090615,17764113,17557904,16997916,16485136,16344560,15596820,15496401,15113441,14702039,14660588,14517299,12872252,12477932,11161714,8889548,14755250,14690447 59348 NM_021632,AC011460,CH471135,AF295096,AF309561,AK021864,AK023467,AU135269,BC009921,BM674621 NP_067645,EAW72056,AAG17439,AAG25714,BAB14583,AAH09921,Q9GZX5,ABM84000,ABM87330 Hs.407694 ZBRK1|ZFQR protein-coding 1353304 ZNF354A zinc finger protein 354A 1580863,1300202,2291889 9919311,14760703,12477932,10842194,9465904,8889548,8382778,12943985 1300202,2291889 6940 NM_005649,AC113348,CH471165,AF116030,AK290711,BC036517,BC047105,BU685427,CR595568,D89928 NP_005640,EAW53830,AAD05335,BAF83400,AAH47105,BAA25182,O60765,Q86Y64,ABZ92435 Hs.484324 GDB:594894 EZNF|HKL1|KID-1|KID1|TCF17 protein-coding 1346578 ZNF354B zinc finger protein 354B 1580863 15489334,14702039,12477932 117608 NM_058230,AC126915,CH471165,AK057737,AK289667,BC022190,BC036466,BC104777,BC112111 NP_478137,EAW53828,BAB71556,BAF82356,AAI04778,AAI12112,Q96LW1,ABZ92127 Hs.591734 GDB:11508904 FLJ25008|KID2|MGC138316 protein-coding 736972 ZNF354C zinc finger protein 354C 15555547,15489334,12477932,10786630 30832 NM_014594,AC104117,CH471165,AF395540,AF525463,AL137483,BC063312 NP_055409,EAW53817,AAM69676,AAO83897,CAB70764,AAH63312,Q86Y25,Q9NT78 Hs.445740 GDB:11508219 KID3 protein-coding 1349739 ZNF355P zinc finger protein 355, pseudogene 378812 1321306 ZNF358 zinc finger protein 358 1580863 15489334,14702039,12477932,12036583,11013137 140467 NM_018083,AC008878,CH471139,AK001252,BC003585,BC014002,BI601846,C15772,CR623119 NP_060553,EAW69035,BAA91582,AAH03585,AAH14002,Q9NW07,ABZ92101 Hs.133475 GDB:11508221 FLJ10390|ZFEND protein-coding 1345042 ZNF35P zinc finger protein 35 (clone HF.10) pseudogene 1572646 7585 GDB:132287 1344245 ZNF362 zinc finger protein 362 170467 GDB:11508937 1602182 ZNF362 zinc finger protein 362 12477932,10737800 149076 BC112113,BF743001,BX283663,CR596935,NM_152493,AL513327,CH471059,AF318356,AK098342,AW204855,BC071632,BC103704,BC104779 AAI12114,Q5T0B9,Q8N7J3,ABZ92113,NP_689706,CAI13953,EAX07464,AAL55863,BAC05287,AAI04780 Hs.524248 GDB:11508937 FLJ25476|MGC138318|RN|lin-29 flj25476 protein protein-coding 1313271 ZNF364 zinc finger protein 364 1580863 17462600,16925951,16710414,16288031,15489334,12972561,12477932,11591653 27246 NM_014455,AL160282,AL390725,CH471244,CQ834134,AF419857,AF542552,AK290749,AL079314,BC022240,BC054049,BC064903,CR596995,CR597781,CR620298 NP_055270,CAI13717,EAW71437,EAW71438,CAH05282,AAP97292,AAQ09535,BAF83438,CAB45280,AAH54049,AAH64903,Q9Y4L5,ABZ92156,ABZ92320 Hs.523550 GDB:11508225 BCA2|RNF115 protein-coding 1605085 ZNF365 zinc finger protein 365 16682949,16617106,15489334,15363853,15164054,12740763,12477932,11309680,10048485 22891 BX647853,BX647904,DB476702,AJ505149,AJ505150,AK289515,AK289808,BC017841,BC035049,BC044306,BC060817,BC070073,BC101082,BC101083,BC101084,BC101085,BF512570,NM_199450,NM_199451,NM_014951,NM_199452,AC024597,AC024598,AC067751,AC067752,AY547355,CH471083,CQ866772,AB020651,AJ505147,AJ505148 CAI46100,Q05D75,Q08ER3,Q495P1,Q70YC4,Q70YC5,AAI52973,AAI56629,CAD43727,CAD43728,CAD43729,BAF82204,BAF82497,AAH17841,AAH35049,AAH60817,AAI01083,AAI01084,AAI01085,AAI01086,NP_955522,NP_955523,NP_055766,NP_955524,AAT27443,EAW54233,EAW54234,CAH25993,BAA74867,CAD43726 Hs.22653 KIAA0844|MGC41821|MGC87345|Su48|UAN|ZNF365D protein-coding 1314635 ZNF366 zinc finger protein 366 1580863 17085477,16393996,16381901,15489336,14702039,12477932,12234665,11230166,11076863 167465 NM_152625,AC008457,AC093278,CH471084,AK097115,BC029955,BC121053,BC121054,BK000210,BX647592 NP_689838,EAW95707,BAC04954,AAI21054,AAI21055,DAA00066,CAI46096,Q0VAH5,Q5HYI9,Q8N895,CAL37884 Hs.370303 GDB:11508952 DCSCRIPT|FLJ39796 protein-coding 1316151 ZNF367 zinc finger protein 367 1580863 15344908,14702039,12477932,12234665 195828 NM_153695,AL133477,AL160269,CH471174,AK091289,AY554164,AY554165,BC126141,BK000211 NP_710162,CAI39622,EAW92649,EAW92650,AAS66302,AAS66303,AAI26142,DAA00067,Q5JU05,Q7RTV3 Hs.494557 GDB:11508954 CDC14B|FLJ33970|ZFF29 protein-coding 1352896 ZNF37A zinc finger protein 37A 1580863 8464732,15489334,15164054,14702039,12566394,12477932,2288909,2014798 7587 CR613175,X52352,X69115,NM_001007094,NM_003421,AL117339,CH471072,AA742606,AJ492195,AK092012,AK130521,BC015858,BX647089 CAA36578,CAA48868,P17032,NP_001007095,NP_003412,CAI14947,EAW85884,EAW85885,EAW85886,EAW85887,CAD37331,AAH15858 Hs.292575 GDB:126686 FLJ3472|KOX21|ZNF37 zinc finger protein 37a (kox 21) protein-coding 1606933 ZNF37B zinc finger protein 37B 8464732,2014798 256112 XM_001127472,XM_001127459,XM_001125788,XM_001125758,CH471160,AK026980 XP_001127472,XP_001127459,XP_001125788,XP_001125758,EAW86559 Hs.684178,Hs.646695 GDB:128493 FLJ23327|KOX21 protein-coding 1349378 ZNF381P zinc finger protein 381, Y-linked pseudogene 12815422,9847074 246123 NG_004755,AC010088 GDB:11508227 pseudo 1352355 ZNF382 zinc finger protein 382 Members of the C2H2 zinc finger transcription factor family, such as ZNF382, play key roles in the regulation of cell proliferation, differentiation, and apoptosis in response to a variety of stimuli (Gebelein et al., 1998 [PubMed 9835615]).[supplied by OMIM] 1580863 14702039,12477932,12459182,11154279,9835615 84911 NM_032825,AC074138,AC092295,AF513816,AK027592,AL832265,AY227449,BC038358,BC132675,CD690493 NP_116214,AAM48246,BAB55217,CAI46159,AAO72308,AAI32676,Q53ZY8,Q5JPJ2,Q96SR6,AAI56540 Hs.631591 FLJ14686|KS1 protein-coding 1323532 ZNF383 zinc finger protein 383 1580863 15964543,14702039 163087 NM_152604,AC012309,AK091760,AK093182,AK122892,AY260141,AY438646 NP_689817,BAC04086,AAP20067,AAR14184,Q8NA42,AAI48613 Hs.590975 FLJ35863|HSD17 protein-coding 1345674 ZNF384 zinc finger protein 384 This gene contains long CAG trinucleotide repeats coding consecutive glutamine residues. The gene product may functions as a transcription factor, with a potential role in the regulation of neurodevelopment or neuroplasticity. The protein appears to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Multiple transcript variants encoding several isoforms have been found for this gene. 1299380,1580863 9225980,16510139,15990865,15342556,14702039,12477932,12359745,11956602,11862394,11149472 1299380 171017 NM_001039920,NM_001039917,NM_001039918,NM_133476,NM_001039916,AB070238,AC125494,CH471116,NM_001039919,AK095734,AL047622,BC053361,BP312309,BP363856,BX401142,CR590137,CR993835,U80738 NP_001035008,NP_001035009,NP_001035006,NP_001035007,NP_597733,NP_001035005,BAB85125,EAW88755,EAW88756,EAW88757,EAW88758,EAW88759,EAW88760,EAW88761,BAC04618,AAH53361,AAB91437,O15420,Q7Z722,Q8TF68 Hs.103315,Hs.708126 GDB:11502510 CAGH1|CAGH1A|CIZ|ERDA2|NMP4|NP|TNRC1 protein-coding 1349259 ZNF384OS zinc finger protein 384 opposite strand 404213 U80760 1315468 ZNF385A zinc finger protein 385A Zinc finger proteins, such as ZNF385, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM] 1580863 17719541,15527981,15489334,14702039,12477932,11927637,10585558 25946 NM_015481,AC078778,AC079313,CH471054,AF304052,AK024404,AK092724,AL117462,AY461717,BC029752,CR457327,CR599917 NP_056296,EAW96777,EAW96778,EAW96779,AAL08625,BAB14910,CAB55938,AAS19275,AAH29752,CAG33608,Q96PM9 Hs.505653 DKFZP586G1122|HZF|RZF|ZFP385|ZNF385 protein-coding 1322504 ZNF385B zinc finger protein 385B 737633 16344560,15489334,14702039,12477932 737633 151126 CH471058,AK057999,AK096822,AK131432,BC033042,BC038422,BC048123,BC092423,BX443173,DA993893,NM_152520,NM_001113397,NM_001113398,AC062033,AC068042,AC092642,AC093604 EAX11005,BAB71629,BAC04870,BAD18578,AAH38422,AAH48123,AAH92423,Q53R81,Q53S82,Q569K4,NP_689733,NP_001106868,NP_001106869,AAY24322,AAY24346 Hs.655005,Hs.706871 FLJ25270|ZNF533 protein-coding 1604507 ZNF385C zinc finger protein 385C 12477932 201181 NM_001013624,AC105024,BC067901,BC080613 NP_001013646,AAH67901,AAH80613,Q66K41 Hs.443140 protein-coding 1354143 ZNF385D zinc finger protein 385D 737633,1580863 15489334,14702039,12477932 737633 79750 NM_024697,AC009429,AC092504,AC096914,AC104183,CH471055,AK026072,BC007212 NP_078973,EAW64312,EAW64313,BAB15350,AAH07212,Q9H6B1 Hs.21026 FLJ22419|ZNF659 protein-coding 1347253 ZNF389 zinc finger protein 389 651302 XM_940433,CH471081,CR611340 XP_945526,EAX03137 dJ265C24.4 protein-coding 1606101 ZNF391 zinc finger protein 391 16344560,14702039,12477932 346157 NM_001076781,AL031118,CH471081,AK092633,BC132797,BX282552,DB221901,U80232 NP_001070249,CAB51755,EAX03096,BAC03929,AAD00353,O95641,Q8NAI6,Q9UJN7,AAI56668 Hs.651176,Hs.680366 dJ153G14.3 protein-coding 1352134 ZNF391 zinc finger protein 391 387058 1354133 ZNF394 zinc finger protein 394 15489334,15249231,14702039,12690205,12477932,9373149,8125298 84124 NM_032164,AC073063,CH236956,CH471091,AK022360,AK172865,AK222948,AY642122,BC017051,BC025241,BC051847,CR614513,CR617042 NP_115540,EAL23874,EAW76659,BAB14021,BAD96668,AAT67053,AAH17051,AAH25241,AAH51847,Q05DA6,Q53GI3,Q9UD51,ABZ92205 Hs.386324 GDB:11510300 FLJ12298|ZKSCAN14 protein-coding 1317282 ZNF395 zinc finger protein 395 1580863 14625278,17897615,17531190,15489334,14702039,12477932,11853404 55893 NM_018660,AC021678,AC025871,CH471080,AB044750,AB044751,AB044752,AB057659,AB073627,AF263928,AI049727,AK002050,AK021850,AK023418,AK026076,AK098243,AL137588,BC001237,BC002919,BC008870,BC063660,BG249131,BG759384,BI917232,CB960515,CR594489 NP_061130,EAW63519,EAW63520,EAW63521,EAW63522,EAW63523,EAW63524,BAA96783,BAA96784,BAA96785,BAB39851,BAD29734,AAF73463,BAA92056,BAB14571,BAB15352,AAH01237,Q7L9C8,Q9H8N7,ABZ92352 Hs.695998,Hs.699209 DKFZp434K1210|HDBP2|PBF|PRF-1|PRF1|Si-1-8-14 protein-coding 1347461 ZNF396 zinc finger protein 396 1580863 14702039,12801647,12477932 252884 NM_145756,AC007998,CH471088,AF492004,AF533251,AK055775,BC036765,BC130288,BC136314 NP_665699,EAX01352,EAX01353,EAX01354,AAM09559,AAM95992,BAB71010,AAH36765,AAI30289,AAI36315,Q6PID1,Q96N95 Hs.351005 GDB:11510301 FLJ31213|ZSCAN14 protein-coding 1314512 ZNF397 zinc finger protein 397 1580863 15489334,14702039,12801647,12477932,1505991 84307 NM_032347,AC011815,CH471088,AF533250,AK027384,AY157641,BC006172,CR623021,CR624700,CR624709 NP_115723,EAX01341,EAX01342,EAX01343,AAM95991,BAB55075,AAN65175,AAH06172,Q86W11,Q8NF99,Q96K65,ABZ92206 Hs.591061 GDB:11510302 MGC13250|ZNF47|ZSCAN15 protein-coding 2290512 ZNF397OS zinc finger protein 397 opposite strand 14702039,12801647 100101467 XM_001720071,XM_001722380,XM_001723235,NM_001112734,AC011815,CH471088,AK001503,AK057386,AK128697,AK131291,AL832180,AY234408 XP_001720123,XP_001722432,XP_001723287,NP_001106205,EAX01344,BAC87576,BAD18462,AAO89074,Q6ZQV7 Hs.464896,Hs.709501 FLJ16245|FLJ46864 protein-coding 1345407 ZNF398 zinc finger protein 398 This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. 1580863 11779858,15489334,12853948,12690205,12477932,10718198 57541 NM_020781,NM_170686,AACC02000041,AC004890,AC073422,CH471146,CQ834816,AB037760,AK026380,AK290499,AY049742,AY049743,AY049744,BC043295,BE670664 NP_065832,NP_733787,EAL24428,EAL24429,EAW80057,EAW80058,EAW80059,EAW80060,CAH05623,BAA92577,BAF83188,AAK92788,AAK92789,AAH43295,Q8TD17 Hs.654721 GDB:11510303 KIAA1339|P51|P71|ZER6 protein-coding 1348699 ZNF39L2 zinc finger protein 39-like 2 (KOX 27) 2014798 7591 GDB:128181 1343788 ZNF402P zinc finger protein 402 pseudogene 266673 NG_002664,AC006548,AC007064 GDB:11510760 pseudo 1346088 ZNF404 zinc finger protein 404 12743021,12477932,8889548 342908 NM_001033719,AC011508,CH471126,AY166785,BC101332,BC101333,BQ188692 NP_001028891,EAW57234,AAO45834,AAI01333,AAI01334,Q494X3,Q86WM5 Hs.76561 GDB:11511077 MGC120455 protein-coding 1346738 ZNF405P zinc finger protein 405 pseudogene 319123 NG_002504,AL606834 pseudo 1344883 ZNF407 zinc finger protein 407 1580863 14702039,11214970 55628 Q96MY0,Q9C0G0,Q9H8A1,Q9NXD4,Q9NXD7 NM_017757,AC015819,AC023380,AC091589,AC100783,AC138660,CH471117,AB051490,AK000314,AK000317,AK023901,AK056288,AK128356 NP_060227,EAW66565,EAW66566,BAB21794,BAA91077,BAA91080,BAB14716,BAB71139,Q96MY0,Q9C0G0,Q9H8A1,Q9NXD4,Q9NXD7 Hs.536490 FLJ13839|FLJ20307|KIAA1703 protein-coding 1315189 ZNF408 zinc finger protein 408 1580863 15231747,16189514,15489334,14702039,14667819,12477932 79797 NM_024741,AC115088,CH471064,AF346626,AK022889,BC013355,BC015708,CR603963,CR606317 NP_079017,EAW67981,AAK29075,BAB14295,AAH13355,AAH15708,Q9H9D4,ABZ92061 Hs.656931 FLJ12827 protein-coding 1321155 ZNF409 zinc finger protein 409 1580863 10470851 22830 XM_375065,XM_941446,BC131533,AL135999,AB028979 XP_375065,AAI31534,Q6ZVK3,Q9UPU6,XP_946539,BAA83008 Hs.508937 FLJ42478 protein-coding 1346984 ZNF41 zinc finger protein 41 This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. Several alternatively spliced transcript variants have been described, however, the full-length nature of only some of them is known. 1580863 15772651,15489334,15231748,14628291,12477932,10449920,8088786,2037297,1945843 7592 NM_153380,NM_007130,AL590223,AL590283,CH471164,M92443,AB209520,AJ010017,AJ010018,AJ010019,AJ010020,AJ010021,AJ010022,AJ010023,AK290021,BC015023,X60155 NP_700359,NP_009061,EAW59300,EAW59301,EAW59302,EAW59303,EAW59304,EAW59305,EAW59306,EAW59307,EAW59308,AAA61312,BAD92757,CAB53035,CAB53036,CAB53037,CAB53038,CAB53039,CAB53040,CAB53041,BAF82710,AAH15023,CAB51740,P51814,Q59FE0,Q5JRK3,ABZ92439 Hs.496074 GDB:125865 MGC8941|MRX89 protein-coding 1313783 ZNF410 zinc finger protein 410 15489334,12477932,12370286,9373149,9110174,8619474,8125298 57862 NM_021188,AC005480,AC005520,CH471061,AK223261,BC000330,BC004357,BC050683,CR610987,U90919 NP_067011,EAW81136,EAW81137,EAW81138,EAW81139,EAW81140,EAW81141,EAW81142,EAW81143,BAD96981,AAH04357,AAH50683,AAB51059,Q53FM1,Q86VK4,ABZ92368 Hs.270869 APA-1|APA1 protein-coding 1603942 ZNF414 zinc finger protein 414 16189514,15489334,12477932,9373149 84330 NM_032370,AC092298,CH471139,AK074191,AK225034,BC007310,BC071937 NP_115746,EAW68913,EAW68914,EAW68915,EAW68916,AAH07310,AAH71937,Q96IQ9,ABZ92068 Hs.515114 MGC15716|Zfp414 protein-coding 1350513 ZNF415 zinc finger protein 415 1580863 12477932,9110174,8619474,17055453,14702039 55786 NM_018355,AC010328,CH471135,AF038179,AK002053,AK095504,AL534796,AY283600,BC063880,BC069668,CR621541,DQ925695,DQ925696,DQ925697,DQ925698 NP_060825,EAW72115,EAW72116,EAW72117,EAW72118,BAA92059,AAP35086,AAH63880,AAH69668,ABI51309,ABI51310,ABI51311,ABI51312,Q09FC8,ABZ92349 Hs.147765 FLJ11191 protein-coding 1346172 ZNF416 zinc finger protein 416 15489334,14702039,12477932 55659 AC003682,CH471135,AK000564,BC000130,NM_017879 AAC24607,EAW72514,EAW72515,BAA91257,AAH00130,O43338,Q9BWM5,ABZ92347,NP_060349 Hs.247711 FLJ20557 protein-coding 1344195 ZNF417 zinc finger protein 417 16189514,15489334,15342556,12477932 147687 NM_152475,AC010326,CH471135,BC025783,BC103757,BP358797 NP_689688,EAW72541,AAH25783,Q8TAU3 Hs.288995,Hs.567710 MGC34079 protein-coding 1353630 ZNF418 zinc finger protein 418 1580863 15489334,14702039,12477932,11853319 147686 NM_133460,AC010326,CH471135,AB075836,AK056113,AY695825,BC112244,BC113707 NP_597717,EAW72542,BAB85542,BAB71096,AAU05132,AAI12245,AAI13708,Q8TF45 Hs.660728 FLJ31551|KIAA1956|MGC138449 protein-coding 1602863 ZNF419 zinc finger protein 419 16344560,15489334,15342556,14702039,12477932 79744 NM_001098491,NM_001098494,NM_024691,NM_001098492,NM_001098495,NM_001098493,NM_001098496,AC003005,CH471135,AB209371,AK026886,BC008297,BC024259,BP336834,CR601614,DB004191,DC315347,DC392630,DC407547,DC425209 NP_001091961,NP_001091964,NP_078967,NP_001091962,NP_001091965,NP_001091963,NP_001091966,EAW72504,EAW72505,EAW72506,BAD92608,BAB15582,AAH08297,AAH24259,Q59FT8,Q96HQ0 Hs.710285 FLJ23233|ZNF419A protein-coding 1349955 ZNF420 zinc finger protein 420 15489334,14702039,12477932 147923 NM_144689,AC010632,AC012309,AK056695,AK056753,BC026210 NP_653290,BAB71257,BAB71272,AAH26210,Q8TAQ5,Q96ML5,Q96MM9 Hs.444992 FLJ32191 protein-coding 1344492 ZNF423 zinc finger protein 423 The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. 10660046,14702039,14623329,12477932,12136093,9872452,9151733,7829101 23090 NM_015069,AC007339,AC007607,AC007861,AC027348,CH471092,AB018303,AF221712,AK027479,AW022965,BC112315,BC112317,CD626621 NP_055884,EAW82735,BAA34480,AAF28354,AAI12316,AAI12318,Q2M1K9 Hs.530930 Ebfaz|KIAA0760|MGC138520|MGC138522|OAZ|Roaz|ZFP423|Zfp104 protein-coding 1349491 ZNF424 zinc finger protein 424 347683 1606140 ZNF425 zinc finger protein 425 14702039,12690205 155054 NM_001001661,AACC02000041,AC073422,CH471146,AK056498,AY621067,BC125189 NP_001001661,EAL24427,EAW80061,AAT40438,AAI25190,Q08AG3,Q6IV72 Hs.31743 MGC150568 protein-coding 1318534 ZNF426 zinc finger protein 426 1580863 16189514,15489334,14702039,12477932 79088 NM_024106,AC008567,CH471106,AB209837,AK095759,BC001791 NP_077011,EAW84038,EAW84039,EAW84040,BAD93074,AAH01791,Q59EH4,Q9BUY5,ABM83450,ABM86662 Hs.594011 MGC2663 protein-coding 1343141 ZNF427 zinc finger protein 427 347692 1603271 ZNF428 zinc finger protein 428 12477932 126299 NM_182498,AC005525,AC006276,CH471126,AA215292,AI569354,AY257197,BC015950,BC045799,BE901751,BG121932 NP_872304,EAW57209,EAW57210,AAP87382,AAH15950,AAH45799,Q96B54 Hs.99093 C19orf37|MGC51082|Zfp428 protein-coding 1349572 ZNF429 zinc finger protein 429 14702039,7865130 353088 NM_001001415,AC010615,CH471106,AF325191,AK057495,AY269786 NP_001001415,EAW84901,AAK01422,BAB71510,AAP30884,Q86V71,Q96M04,Q9BZE6,AAI56456 Hs.572567,Hs.709598 protein-coding 1349254 ZNF43 zinc finger protein 43 This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. 1580863 1711675,11256614,17178891,16381901,15489336,15489334,14702039,12477932,11076863,8467795,2288909,2023909,2014798 7594 P17038,Q53XQ2,Q5H9T3 NM_003423,AC010617,AC092364,CH471106,AK022905,BC006528,BT009756,BU786847,CR933640,M61869,X52358,X59244 NP_003414,EAW84908,EAW84909,AAH06528,AAP88758,CAI45941,AAA58674,CAA36584,CAA41932,P17038,Q53XQ2,Q5H9T3,CAL37453,CAL37522 Hs.534365 GDB:128653 ARK1|AURKA|AURORA2|BTAK|DKFZp686L1854|HTF6|KOX27|STK15|ZNF39L1 zinc finger protein 43 (htf6) protein-coding 1353435 ZNF430 zinc finger protein 430 1580863 14702039,12477932 80264 NM_025189,AC008739,AC012627,CH471106,AK023721,AK290475,AL832422,AY269787,BC111776 NP_079465,EAW84884,BAB14656,BAF83164,CAH10650,AAP30885,AAI11777,Q2NKJ9,Q69YQ2,Q9H8G1 Hs.466289 DKFZp762K012|FLJ13659|MGC133232 protein-coding 1605269 ZNF431 zinc finger protein 431 15489334,12477932,11853319 170959 NM_133473,AC010620,CH471106,AB075849,AK293072,BC040506,BX647597 NP_597730,EAW84888,EAW84889,EAW84890,BAB85555,BAF85761,AAH40506,Q8TF32 Hs.696753 DKFZp313E0830|KIAA1969 protein-coding 1350152 ZNF432 zinc finger protein 432 1580863 16777052,15489334,12477932,9872452 9668 NM_014650,AC011468,CH471135,AB018341,AK292827,BC002858 NP_055465,EAW72060,EAW72062,BAA34518,BAF85516,AAH02858,O94892,ABZ92278 Hs.655934 protein-coding 1345946 ZNF433 zinc finger protein 433 1580863 14702039,12477932 163059 NM_001080411,AC008770,AC022415,CH471106,AK098300,BC047412 NP_001073880,EAW84253,EAW84254,EAW84255,EAW84256,BAC05279,AAH47412,Q86VX3,Q8N7K0,ABZ92118 Hs.667776 FLJ40981 protein-coding 1343279 ZNF434 zinc finger protein 434 1580863 16189514,14702039,12477932 54925 CH471112,AK000424,AK056463,AK291213,AY261676,AY279347,AY279348,BC002859,BC017015,CR620466,NM_017810,AC025283 EAW85369,EAW85370,EAW85371,EAW85372,BAA91155,BAF83902,AAP57398,AAQ62844,AAQ62845,AAH02859,Q6WMU8,Q9BU74,Q9NX65,NP_060280 Hs.592078 FLJ20417|FLJ31901|MGC4179 protein-coding 1321577 ZNF436 zinc finger protein 436 1580863 17089209,16710414,15489334,14702039,12477932,11214970,1946370,1505991 80818 NM_001077195,NM_030634,AL109936,CH471134,M88359,AB051497,AK092364,AL834485,BC056400,CR611983 NP_001070663,NP_085137,CAI19028,CAI19029,EAW95043,EAW95044,EAW95045,AAA61317,BAB21801,BAC03871,CAD39143,AAH56400,Q15921,Q5TEG9,Q8NAP0,Q9C0F3,ABZ92065 Hs.293798 KIAA1710|ZNF|Zfp46 protein-coding 1603538 ZNF438 zinc finger protein 438 17669267,15489334,15164054,14702039,12477932 220929 NM_182755,AL359532,AL591707,AL596113,CH471072,AF428258,AF440405,AK057323,AK131357,AK292730,AL833056,BC101622,BC104757,DQ356011,DQ356012 NP_877432,CAI13437,CAI13438,EAW85995,EAW85996,EAW85997,EAW85998,AAP97298,AAP97319,BAD18510,BAF85419,CAH56317,AAI01623,AAI04758,ABC86954,ABC86955,Q5T425,Q5T427,Q7Z4T7,Q7Z4V0 Hs.660642 FLJ32761|MGC126671|RP11-330O11.1|bA330O11.1 protein-coding 1344221 ZNF439 zinc finger protein 439 1580863 16189514,15489334,14702039,12477932 90594 NM_152262,AC020951,CH471106,AK027542,AL833935,BC032857 NP_689475,EAW84245,EAW84246,EAW84247,BAB55187,CAD38790,AAH32857,Q8NDP4 Hs.528731 DKFZp571K0837 protein-coding 1344370 ZNF44 zinc finger protein 44 1580863 14667819,17081983,15146197,12477932,10737800,2288909,1946370,1505991,16344560 51710 NM_016264,AC012618,CH471106,M77173,M88367,AA525756,AB021642,AF024706,AW795413,BC001868,BC032246,BX640705,CN364680,CR604609,DA815414,X16281,X52338 NP_057348,EAW84266,EAW84267,AAA36816,AAA61325,BAA86988,AAB81096,AAH01868,AAH32246,CAE45825,CAA34357,CAA36564,O14858,P15621,Q15930,Q6LDH8,Q6N045,Q8N5K7,Q9BUW1 Hs.296731,Hs.693933,Hs.709236 GDB:128612 DKFZp686L21136|GIOT-2|KOX7|ZNF|ZNF504|ZNF58 zinc finger protein 44 (kox 7) protein-coding 1347624 ZNF440 zinc finger protein 440 1580863 15489334,14702039,12477932,16189514 126070 NM_152357,AC008543,CH471106,AK092559,AK095252,BC016371,BC035760 NP_689570,EAW84243,EAW84244,BAC03914,BAC04510,AAH16371,AAH35760,Q05DD3,Q8IYI8,Q8NAJ8,ABZ92094 Hs.418192 FLJ37933 protein-coding 1350882 ZNF441 zinc finger protein 441 1580863 14702039 126068 NM_152355,AC008543,CH471106,AK095956,BX649086 NP_689568,EAW84240,BAC04661,Q8N8Z8 Hs.675132 FLJ38637 protein-coding 1353255 ZNF442 zinc finger protein 442 1580863 16344560,14702039 79973 NM_030824,AC008758,CH471106,AK024418,DA151257 NP_110451,EAW84270,BAB14916,Q9H7R0 Hs.253193 FLJ14356 protein-coding 1345334 ZNF443 zinc finger protein 443 Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM] 1580863 9731181,15489334,14702039,12477932,12215374 10224 NM_005815,AC008758,CH471106,AB011414,AK023025,BC032753 NP_005806,EAW84273,BAA75543,AAH32753,Q9Y2A4,ABZ92288 Hs.631623 ZK1 protein-coding 1312520 ZNF444 zinc finger protein 444 ZNF444 has a domain structure and amino acid sequence similar to several zinc finger transcription factors, such as Kruppel-like ZNF191 (MIM 194534).[supplied by OMIM] 14702039,12477932,11978792,9373149,8125298,15489334 55311 NM_018337,AC024580,CH471135,AB052954,AB052955,AF074985,AK001999,AK074063,AK097319,AK223408,AL834130,BC021282,BI823582,CR590232,CR597748,CR622776,CR626120,CR626723 BAC02698,NP_060807,EAW72424,EAW72425,EAW72426,EAW72427,EAW72428,EAW72429,EAW72430,BAC02697,BAA92028,BAB84889,BAD97128,CAD38847,AAH21282,Q53F81,Q8N0Y2 Hs.24545 EZF-2|EZF2|FLJ11137|ZSCAN17 protein-coding 1349162 ZNF445 zinc finger protein 445 1580863 16368201,15489334,12477932,7814019 353274 NM_181489,AC099669,AC134943,CH471055,AK026891,AL832553,AY262260,AY279350,AY295873,BC052953,BC101486,BX108541,L32162 NP_852466,EAW64708,AAP36990,AAQ62847,AAP50258,AAI01487,AAA36767,P59923,Q15636 Hs.250481 MGC126535|ZKSCAN15|ZNF168 protein-coding 1351503 ZNF446 zinc finger protein 446 16189514,15936718,14702039,12477932 55663 Q9H686,Q9NWS9,Q9UFF2,Q8NDK2,Q96AF5 BC017206,NM_017908,AC012313,CH471135,AK000633,AK026153,AK055359,AL122108,AL833955,AY279351,AY280800 AAH17206,Q8NDK2,Q96AF5,Q9H686,Q9NWS9,Q9UFF2,NP_060378,EAW72597,EAW72598,EAW72599,EAW72600,BAA91298,BAB15377,CAB59270,CAD38805,AAQ62848,AAQ16304 Hs.653109 FLJ20626|ZKSCAN20|ZSCAN30 protein-coding 1346324 ZNF448 zinc finger protein 448 353277 1348166 ZNF449 zinc finger protein 449 16636917,15790807,15772651,15489334,14702039,12477932 203523 CH471107,AK002078,AK074194,AL832169,AL833109,AL833407,AY280801,AY927530,AY927531,AY927619,BC060768,BC065938,BX537604,NM_152695,AL450472 EAX11728,BAB85013,CAD38639,AAQ16305,AAH60768,AAH65938,CAD97794,Q5JRZ7,Q6P9G9,Q7Z3P1,ABZ92212,NP_689908,CAI39872,CAI39873 Hs.28780 FLJ23614|ZSCAN19 protein-coding 1354120 ZNF45 zinc finger protein 45 1580863 9570955,1559709,15489334,15057824,12477932,2288909,9067431 7596 NM_003425,AC006213,AC035150,CH471126,AK127739,BC037575,L75847,M67509,X52336 NP_003416,AAF63030,EAW57235,EAW57236,BAC87108,AAH37575,AAB05653,AAA36133,AAA36134,CAA36562,Q02386,Q6ZS47,ABZ92440 Hs.381285 GDB:127523 KOX5|ZNF13 protein-coding 1314152 ZNF451 zinc finger protein 451 1580863 16189514,15489334,15231748,15146197,14702039,14574404,12477932,9628581,9373149,8125298,7566098 26036 NM_015555,AL136311,AL450489,CH471081,AA336048,AB011148,AK000983,AK027805,AK075174,AK225806,AY055204,BC021712,BC098382,BM559241,BX648081,CN314846,CR623945,NM_001031623 NP_056370,CAI20516,CAH71220,CAH71221,CAH71222,CAH71223,EAX04471,EAX04472,BAA25502,BAB55382,AAL17975,AAH21712,AAH98382,NP_001026794,Q4KMR5,Q5VVE9,Q96JY2,Q9Y4E5 Hs.485628,Hs.705485 COASTER|FLJ90693|KIAA0576|MGC26701|dJ417I1.1 protein-coding 1346228 ZNF454 zinc finger protein 454 1580863 15489334,14702039,12477932 285676 NM_182594,AC104117,CH471165,AK094763,AK292317,BC105061,BC112276 NP_872400,EAW53822,EAW53823,EAW53824,BAC04418,BAF85006,AAI05062,AAI12277,Q2M1P2,Q8N9F8,ABZ92160 Hs.259441 FLJ37444|MGC138481 protein-coding 1606316 ZNF460 zinc finger protein 460 Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM] 16344560,15489334,15004467,14702039,12477932,7865130 10794 NM_006635,AC005261,AK074582,AK090816,AK292144,AY329492,BC109018,BC109019,BC118625,DA991801,X78931 NP_006626,BAC03522,BAF84833,AAR00225,AAI09019,AAI09020,AAI18626,CAA55531,Q14592,Q8N2C6 Hs.99971 HZF8|ZNF272 protein-coding 1601731 ZNF461 zinc finger protein 461 16595694,15489334,15004467,12477932,11579202 92283 NM_153257,AC074138,AB021641,AB209279,AK292834,AY329493,BC028631,BX649031 NP_694989,BAA86987,BAD92516,BAF85523,AAR00226,AAH28631,Q59G30,Q8TAF7,ABM82111,ABM85293 Hs.590972 GIOT-1|GIOT1|MGC33911 protein-coding 1352850 ZNF462 zinc finger protein 462 1580863 15489334,14702039,12477932,12168954,11347906 58499 NM_021224,AL512593,AL590362,CH471105,AB058706,AK027866,AK127803,AL359561,BC036884,BX648965,CR749850 NP_067047,CAI14941,CAI14942,CAI14943,EAW59010,EAW59011,EAW59012,BAB47432,BAB55417,BAC87142,CAB94868,AAH36884,CAH56168,CAH18698,Q5T0T2,Q5T0T3,Q5T0T4,Q63HJ5,Q68CP0,Q6ZS14,Q96JM2,Q96JV0,Q9NPX5 Hs.370379 DKFZP762N2316|DKFZp686B2325|FLJ14960|FLJ45904|KIAA1803|RP11-508N12.1|Zfp462 protein-coding 1354246 ZNF463P zinc finger protein 463 pseudogene 387123 1350118 ZNF467 zinc finger protein 467 1580863 17848547,15489334,12477932,12426389 168544 NM_207336,AC004877,CH471146,BC029296,BC038972,BC052625 NP_997219,EAW80032,EAW80033,EAW80034,AAH52625,Q7Z7K2 Hs.112158 EZI|Zfp467 protein-coding 1605315 ZNF468 zinc finger protein 468 16144304,14702039,12477932 90333 NM_001008801,NM_199132,AC008813,CH471135,AK023558,AK025501,AK289841,AK292449,AY442330,AY442331,BC008480,BC037409,BC063143,CR749381,CR936599,CR936695 NP_001008801,NP_954583,EAW72099,EAW72100,BAF82530,BAF85138,AAS01603,AAS01604,AAH63143,CAH18233,CAI56747,Q5VIY5,Q6P514,AAI48555 Hs.467223 DKFZp781B1474|DKFZp781N07108 protein-coding 1316175 ZNF469 zinc finger protein 469 This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. 1580863 18452888,11347906,17081983 84627 XR_040937,XR_040936,XR_040938,NM_001127464,AC135049,AB058761 NP_001120936,BAB47487,Q96JG9 Hs.54925 KIAA1858 protein-coding 1603830 ZNF470 zinc finger protein 470 15057824,14702039,12477932,16344560,15302581 388566 NM_001001668,AC007228,CH471135,AA977233,AK129686,AK130356,AY484591,BC142627,BC150188,BX641145,DA412738 NP_001001668,AAD23607,EAW72466,BAC85218,AAS64219,Q6ECI4 Hs.204449 CZF-1|FLJ26175|FLJ26846 protein-coding 1350704 ZNF471 zinc finger protein 471 737633,1580863 16189514,15489336,15489334,15057824,16381901,12477932,11230166,11076863,10718198 737633 57573 NM_020813,AC004696,AC005498,CH471135,AB037817,AF352026,AK291416,AL831845,BC016830,BC028227,BC125221,BC125222 NP_065864,AAC32422,EAW72459,EAW72460,EAW72461,BAA92634,AAK30252,BAF84105,CAD38551,AAH16830,AAH28227,AAI25222,AAI25223,Q08AD6,Q0JT84,Q8N6T4,Q96AS0,Q9BX82,CAL38280 Hs.230188 ERP1|KIAA1396|MGC150657|MGC150658|Z1971 protein-coding 1343636 ZNF472 zinc finger protein 472 1299608 1299608 386619 1352232 ZNF473 zinc finger protein 473 16914750,16189514,15489334,14702039,12975319,12477932,11782445,10574461 25888 AC011452,CH471177,AB032967,AF454744,AK054671,AK292452,AL080143,BC018612,BX492803,BX648093,CR596386,CR625943,NM_015428,NM_001006656,AC010624 EAW52593,EAW52594,BAA86455,AAL51029,BAF85141,CAB45736,AAH18612,CAH56173,Q63HN4,Q8WTR7,ABZ92317,NP_056243,NP_001006657 Hs.440553 HZFP100|ZN473 protein-coding 1606968 ZNF474 zinc finger protein 474 15489334,14702039,12477932 133923 NM_207317,AC010255,CH471086,AK057483,AK290985,AY461732,BC133022,BC133026 NP_997200,EAW48892,EAW48893,EAW48894,EAW48895,EAW48896,BAB71507,BAF83674,AAS21253,AAI33023,AAI33027,Q6S9Z5 Hs.646680 FLJ32921 protein-coding 1353288 ZNF479 zinc finger protein 479 1580863 11410164 90827 NM_033273,XM_001719979,XM_001714591,AC099654,AC122133,AC125231,CH471214,AF277624 NP_150376,XP_001720031,XP_001714643,EAW71754,AAK61307,Q96JC4 Hs.616660 KR19 protein-coding 1350030 ZNF48 zinc finger protein 48 1946370,1505991 7599 M88358 AAA61316,Q15920 GDB:128665 protein-coding 1348732 ZNF480 zinc finger protein 480 737633,1580863 15489334,15219843,14702039,12477932 737633 147657 NM_144684,AC010320,CH471135,AK096442,AK096559,AL832560,AY512662,BC007056,BC018783,BC054018,BC065503 NP_653285,EAW72071,BAC04792,BAC04817,CAI46140,AAR97581,AAH07056,AAH18783,AAH54018,AAH65503,Q05DL7,Q7Z2X8,Q8WV37,ABM82675,ABW03458 Hs.147025 MGC32104 protein-coding 1604223 ZNF483 zinc finger protein 483 14702039,12477932,11853319 158399 NM_001007169,NM_133464,AL135787,AL159168,CH471105,AB075842,AK092811,AK291267,BC020893,BC065738,BC136695,BC136696,BC152427,BC152433 Q8NAE1,Q8TF39,Q6P088,NP_001007170,NP_597721,CAI12406,CAH73466,CAH73467,CAH73468,EAW59073,BAB85548,BAC03981,BAF83956,AAH65738,AAI36696,AAI36697,AAI52428,AAI52434,Q5VZN2 Hs.660784 ZKSCAN16 protein-coding 1350077 ZNF484 zinc finger protein 484 15489334,15231748,15164053,14702039,12477932 83744 NM_031486,NM_001007101,AL136981,CH471089,AK000772,AK091203,AK292997,AL833202,BC112394,BC112396 NP_113674,NP_001007102,EAW62836,EAW62837,BAF85686,AAI12395,AAI12397,Q5JVG2,Q5JVG3 Hs.668378 BA526D8.4|MGC133033|MGC133034 protein-coding 1349192 ZNF485 zinc finger protein 485 1580863 15489334,15164054,14702039,12477932 220992 NM_145312,AL645634,CH471160,AK074679,BC014161,BX648149 NP_660355,EAW86605,EAW86606,BAC11133,AAH14161,Q8NCK3 Hs.147440 protein-coding 1346130 ZNF486 zinc finger protein 486 1580863 15489334,12477932 90649 NM_052852,AC011447,CH471106,AB209550,BC008936,BC027608,BC117268 NP_443084,EAW84874,BAD92787,AAH08936,AAH27608,AAI17269,Q0VG00,Q4G180,Q59FB0,Q96H40 Hs.590991 KRBO2|MGC2396 protein-coding 1605144 ZNF487 zinc finger protein 487 642819 XM_926224,XM_001714430,XM_936711,AL450326 XP_931317,XP_001714482,XP_941804,CAI15018,CAO03512,Q5T1H0 Hs.150882 KRBO1 protein-coding 1320391 ZNF488 zinc finger protein 488 1580863 16713569,15489334,15164054,14702039,12477932 118738 NM_153034,AL731561,CH471251,AK055018,AK056666,AK091097,BC026895,BC051323 NP_694579,CAH74044,EAW50658,BAB71246,AAH26895,AAH51323,Q05CE0,Q96MN9 Hs.27788 FLJ32104 protein-coding 1352943 ZNF49 zinc finger protein 49 1505991 7600 GDB:128666 1346780 ZNF490 zinc finger protein 490 1580863 15489334,12477932,10574462 57474 NM_020714,AC010422,CH471106,AB033024,BC038586 NP_065765,EAW84277,BAA86512,AAH38586,Q9ULM2,ABZ92362 Hs.655860 KIAA1198 protein-coding 1349638 ZNF491 zinc finger protein 491 1580863 16344560,15489334,14702039,12477932,8889549 126069 NM_152356,AC008543,CH471106,AA083980,AK092110,AK096593,BC101590,BC101592,DA776617 NP_689569,EAW84242,BAC03809,BAC04824,AAI01591,AAI01593,Q8N8L2 Hs.631634 FLJ34791|MGC126639|MGC126641 protein-coding 1352998 ZNF492 zinc finger protein 492 1580863 16714237,12477932,10819331 57615 NM_020855,AC011467,AC024563,AB040906,BC110575 NP_065906,BAA95997,AAI10576,Q9P255 Hs.232108 KIAA1473|MGC129633|MGC148019 protein-coding 1344388 ZNF493 zinc finger protein 493 14702039,12477932 284443 NM_175910,AC010615,CH471106,AB209086,AK092178,AK093823,AK095616,AK127476,AK128494,BC006408,BC022394,BC112346,BX648842,NM_001076678 NP_001070146,NP_787106,EAW84899,BAD92323,BAC04232,BAC04591,BAC86997,BAC87465,AAH06408,AAH22394,AAI12347,Q2M1I7,Q6ZR52,Q8TCC0,Q9BR99,ABZ92091 Hs.656558 FLJ36504 protein-coding 1312150 ZNF496 zinc finger protein 496 737633,1580863 16189514,15489334,15169884,14702039,12477932 737633 84838 NM_032752,AC104335,CH471148,AK097397,AK098030,BC007263,BC025794,CR610381 NP_116141,EAW77178,EAW77179,EAW77180,EAW77181,EAW77182,AAH07263,AAH25794,Q8TBS2,Q96IT1,ABM84432,ABM87490 Hs.654803 MGC15548|NIZP1|ZKSCAN17 protein-coding 1343501 ZNF497 zinc finger protein 497 15489334,14702039,12477932 162968 AC012313,AF064790,CH471135,AF085829,AK126727,AK131209,BC118983,BC125273,NM_198458 AAF16412,EAW72577,EAW72578,BAC86660,BAD18400,AAI18984,AAI25274,Q0VF48,Q6ZNH5,NP_940860 Hs.447840 FLJ44773 protein-coding 1318498 ZNF498 zinc finger protein 498 This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. 16314882,14702039,12690205,12477932,11179890 221785 NM_145115,NG_000004,AC005020,CH236956,CH471091,AK057030,AK160369,AW195325,BC069644,BC074902,BC074903,BC089402,BC114573,BC114941,BX640720,BX648158,CR592935 NP_660090,EAL23869,EAW76643,EAW76644,EAW76645,EAW76646,EAW76647,BAD18712,AAH69644,AAH74902,AAH74903,AAH89402,AAI14574,AAI14942,CAE45839,Q6NSZ9 Hs.446297 ZSCAN25 protein-coding 1314930 ZNF500 zinc finger protein 500 1580863 15489334,15146197,12477932,9628581,9110174,8889549,8619474 26048 NM_021646,AC020663,CH471112,AA236649,AB011129,AF007129,AK291792,BC014054,BC033151,BC121013,BC121014,CN314802,BC004125 NP_067678,EAW85266,BAA25483,BAF84481,AAH33151,AAI21014,AAI21015,O60304,Q0VAL1,Q8N4Z8,AAH04125 Hs.513316 ZKSCAN18 protein-coding 1353469 ZNF501 zinc finger protein 501 737633,1580863 15489334,14702039,12477932,1946370,1505991 737633 115560 NM_145044,AC098649,CH471055,M88361,AK054613,BC013762,CR596464 NP_659481,EAW64720,EAW64721,AAA61319,BAB70773,AAH13762,Q15923,Q96CX3 Hs.401045 MGC21738|ZNF|ZNF52 protein-coding 1343425 ZNF502 zinc finger protein 502 1580863 15489334,14702039,12477932 91392 NM_033210,AC098649,AC124045,CH471055,AK022577,AK027761,BC028377 NP_149987,EAW64718,EAW64719,BAB55352,AAH28377,Q8TBZ5,Q96K08,ABZ92081 Hs.224843 FLJ12515|FLJ14855 protein-coding 1323782 ZNF503 zinc finger protein 503 737633,1580863 14983057,14702039,12477932,9373149,8125298 737633 84858 NM_032772,AC010997,CH471083,AK092897,AK127647,AK225851,AK290311,BC007494,BC011625,BC013011,BC021165 NP_116161,EAW54579,EAW54580,EAW54581,BAC03999,BAF83000,AAH07494,AAH11625,AAH13011,AAH21165,Q96F45,ABZ92074 Hs.195710 FLJ45745|MGC2555|NOLZ-1 protein-coding 1344770 ZNF506 zinc finger protein 506 11256614,14702039,12477932 440515 NM_001099269,AC011477,CH471106,AB209500,AK095575,AK122848,AL136548,BC018100,BC034920,CR615667 NP_001092739,EAW84861,BAD92737,CAB66483,AAH18100,Q4G1C2,Q59FG0,Q5JVG8 Hs.351906 DKFZp761G1812|MGC27136 protein-coding 1315962 ZNF507 zinc finger protein 507 1580863 15302935,12477932,10470851 22847 AB029007,AK126703,AK130905,AK292526,AL713775,BC110332,BX640881,CR617264,NM_014910,AC007773 BAA83036,BAF85215,CAD28536,AAI10333,CAE45937,Q2TBF1,Q6MZU0,Q8TCN5,Q9UPR8,NP_055725 Hs.205392 protein-coding 1315520 ZNF509 zinc finger protein 509 737633 15489334,14702039,12477932 737633 166793 NM_145291,AC011744,AC105415,AK095878,AK127560,AK292551,AL832751,BC016477,BC089401,BC109087,BC109088,AB209466 NP_660334,BAC87035,BAF85240,AAH16477,AAH89401,AAI09088,AAI09089,Q32MK9,Q32ML0,Q6ZSB9,BAD92703 Hs.419997 FLJ38559|MGC126279|MGC126280 protein-coding 1345526 ZNF510 zinc finger protein 510 737633,1580863 15489334,15231748,12477932,10231032 737633 22869 NM_014930,AL589843,CH471174,AB023189,AK292600,BC036676,BC058022,BC068587,CR603078 NP_055745,CAI15266,CAI15267,EAW92666,BAA76816,BAF85289,AAH36676,AAH58022,AAH68587,Q5SZP5,Q6NUI8,Q9Y2H8,ABZ92307 Hs.75264 KIAA0972|MGC33740 protein-coding 1318442 ZNF511 zinc finger protein 511 737633,1580863 15489334,15164054,14702039,12477932 737633 118472 NM_145806,AL360181,CH471211,AK091711,AK292380,BC015139,BC019897,CR590792,CR604803,CR607321,CR611284,CR617311,CR620153 NP_665805,CAH70277,CAH70278,EAW61330,EAW61331,EAW61332,EAW61333,BAC03729,BAF85069,AAH15139,AAH19897,Q8NB15 Hs.422113 MGC30006 protein-coding 1349628 ZNF512 zinc finger protein 512 737633,1580863 14702039,12477932,11347906 737633 84450 NM_032434,AC074091,CH471053,AB058708,AK057028,AK074460,AL514772,AL833748,BC015707,BC043221,BC093041,BG720805,BX647996 NP_115810,AAX93199,EAX00562,EAX00563,EAX00564,EAX00565,BAB47434,BAB71348,CAH56258,AAH43221,AAH93041,Q53RZ7,Q658M0,Q86XK6,Q96ME7 Hs.529178 KIAA1805|MGC111046 protein-coding 1606523 ZNF512B zinc finger protein 512B 17081983,15489334,12477932,11780052,10574462 57473 NM_020713,AL118506,CH471077,AB033022,AL834525,BC125128,BC125129 NP_065764,CAC15498,EAW75183,BAA86510,CAD39181,AAI25129,AAI25130,Q96KM6 Hs.551552 GM632|KIAA1196|MGC149845|MGC149846 protein-coding 1321365 ZNF513 zinc finger protein 513 737633 15221005,14702039,12477932,8889548 737633 130557 AB075875,NM_144631,AC074117,CH471053,AK056765,AK096933,AK290690,AL833946,BC040650,BC052282,CA312898,CR620947 EAX00583,BAD38657,NP_653232,AAY14845,BAB71274,BAC04903,BAF83379,CAD38801,AAH40650,AAH52282,Q3ZCU1,Q68CJ1,Q86UZ3,Q8N8E2,Q8NDL8,Q96ML3,ABZ92098 Hs.515872 FLJ32203|HMFT0656 protein-coding 1347182 ZNF514 zinc finger protein 514 1580863 15815621,15489334,14702039,12477932 84874 NM_032788,AC092835,CH471219,AK027363,AL832263,AL833754,BC068498,BC074900,BC074901,BC110524,BC110525 NP_116177,AAX88981,EAX10714,BAB55064,CAI46170,CAH56226,AAH74900,AAH74901,AAI10525,AAI10526,Q658L7,Q96K75 Hs.655109 MGC126229|MGC126230 protein-coding 1343458 ZNF516 zinc finger protein 516 1580863 15302935,12477932,9039502 9658 NM_014643,AC009716,CH471117,BC108287,BC113085,BC113086,BC128041,D16475,D86975 NP_055458,EAW66578,AAI08288,BAA13211,Q2YDX2,Q92618 Hs.436973 HsT287 protein-coding 1346699 ZNF517 zinc finger protein 517 16344560,14702039,12477932 340385 NM_213605,AF235103,CH471162,AK096527,AK097278,AK131440,BC126161,DB016003,DB325820 NP_998770,EAW82043,EAW82044,EAW82045,EAW82046,BAD18586,AAI26162,A0AV05,Q6ZMY9 Hs.521942 protein-coding 1348764 ZNF518A zinc finger protein 518A 737633 17081983,15489334,15231748,12477932,12168954,9205841 737633 9849 NM_014803,AC021037,CH471066,AB002333,BC030967,BC109045,BC109046,BE900217,CR600301,CR627437 NP_055618,EAW49983,BAA20793,AAH30967,AAI09046,AAI09047,CAH10523,Q6AHZ1 Hs.657337 DKFZp781O2147|MGC125707|MGC125710|ZNF518 protein-coding 1604562 ZNF518B zinc finger protein 518B 14702039,12477932,11214970 85460 NM_053042,AC110768,CH471069,AB051516,AK058072,AK092268,AK122755,AL833306,BC040874,BC067880,CD656908,CR605217,CR613517 NP_444270,EAW92692,BAB21820,BAB71650,Q9C0D4 Hs.455089 KIAA1729 protein-coding 1352204 ZNF519 zinc finger protein 519 737633,1580863 15489334,14702039,12477932 737633 162655 NM_145287,AC006557,CH471113,AB209417,AK094128,AK096748,AK124851,BC010705,BC024227,BC037787 NP_660330,EAX01497,EAX01498,EAX01499,EAX01500,BAD92654,AAH24227,Q59FP3,Q8TB69,ABZ92114 Hs.352635 FLJ36809|FLJ42861|HsT2362 protein-coding 1343967 ZNF52 zinc finger protein 52 1505991 7602 GDB:128669 1316488 ZNF521 zinc finger protein 521 1580863 14702039,14630787,12477932,12393497,11984006 25925 AC104961,AC105114,AC110603,CH471088,AF141339,NM_015461,BC113648,AJ518106,AK021452,AK027354,AK074046,AK293067,AL117615,BC032869,BC113622 NP_056276,EAX01201,AAG49442,AAI13623,AAI13649,Q8IYZ2,CAD57322,BAB13829,BAB55056,BAB84872,BAF85756,CAB56016,AAH32869 Hs.116935 DKFZp564D0764|EHZF|Evi3|MGC142182|MGC142208 protein-coding 1351738 ZNF524 zinc finger protein 524 737633,1580863 15489334,12477932 737633 147807 NM_153219,AC008735,BC007396,BC014666,BC067748,BI756946,BM790568 NP_694951,AAH07396,AAH14666,AAH67748,Q96C55,ABM82630,ABM83149,ABM86345 Hs.440291 MGC23143 protein-coding 1345310 ZNF525 zinc finger protein 525 1580863 16344560,14702039,11853319 170958 NR_003699,AC010467,AC125388,AB075859,AK097037,AK098804,BQ028675,DB221179 BAB85565,BAC05417,Q8N782,Q8TF23 Hs.352638 KIAA1979 pseudo 1602838 ZNF526 zinc finger protein 526 14702039,12477932,11853319 116115 NM_133444,AC006486,CH471126,AB075831,AK055681,AK122649,AL833399,BC013013 NP_597701,EAW57113,BAB85537,CAH10586,AAH13013,Q8TF50 Hs.137282 DKFZp762O059|KIAA1951|MGC4267 protein-coding 1347810 ZNF527 zinc finger protein 527 1580863 14702039,12477932,11347906 84503 NM_032453,AC008806,CH471126,AB058732,AK091585,BC014325,DC341389 NP_115829,EAW56727,BAB47458,BAC03701,AAH14325,Q8NB42,Q96JJ8 Hs.590940 KIAA1829 protein-coding 1350395 ZNF528 zinc finger protein 528 15489334,14702039,12477932,11347906 84436 NM_032423,AC010332,CH471135,AB058730,AK023429,AK056552,AL832630,AL833325,BC101712,BC111950,BX640670 NP_115799,EAW72078,EAW72079,BAB47456,CAD89949,AAI01713,AAI11951,Q3MIS6,ABZ92069 Hs.662043 KIAA1827|MGC126761|MGC138155 protein-coding 1353081 ZNF529 zinc finger protein 529 15489334,14702039,12477932,10997877 57711 NM_020951,AC092295,AB046835,AK025110,BC064690,CR604626 NP_066002,BAB13441,BAB15068,AAH64690,Q6P280 Hs.708146 KIAA1615 protein-coding 1350299 ZNF530 zinc finger protein 530 737633 14702039,12477932,10819331 737633 348327 AC003682,CH471135,AB040941,AK096831,AL832740,BC060865,NM_020880 AAC24609,EAW72517,BAA96032,AAH60865,Q6P9A1,ABZ92162,NP_065931 Hs.97111 KIAA1508 protein-coding 1323323 ZNF532 zinc finger protein 532 737633,1580863 14702039,12477932,10997877 737633 55205 AK001559,NM_018181,AC040963,AC090233,CH471096,AA953833,AB046849,AF295077,AK128058,AY039256,BC036366,BC130618,BC130620,BE219488,BF591635,CR600377 NP_060651,EAW63081,EAW63082,EAW63083,EAW63084,BAB13455,BAA91755,AAK72122,AAH36366,AAI30619,AAI30621,Q9HCE3 Hs.529023,Hs.607676 FLJ10697 protein-coding 1604994 ZNF534 zinc finger protein 534 147658 XM_496320,XM_001718845,XM_001718217,AC010332,CH471135,AB086839,AB086840,AB091368,AB091369 XP_496320,XP_001718897,XP_001718269,EAW72081,BAD13515,BAD13516,BAE93187,BAE93188,Q1T7F5,Q1T7F6,Q76KX8,Q76KX9,Q96LN7 Hs.447583 FLJ25344|KRBO3 protein-coding 1351769 ZNF536 zinc finger protein 536 1580863 14621294,12477932,9205841 9745 NM_014717,AC011454,AC011504,AB002388,BC132720,BC132722,BC146757,BC150171 NP_055532,BAA20844,AAI32721,AAI32723,AAI46758,AAI50172,O15090 Hs.378901 KIAA0390 protein-coding 1353871 ZNF539 zinc finger protein 539 399655 NM_203282,BC043147 1350187 ZNF53A zinc finger protein 53a 1505991 7603 GDB:128670 1346629 ZNF53B zinc finger protein 53b 1505991 7604 GDB:128671 1346331 ZNF540 zinc finger protein 540 1580863 16815308,15489334,14702039,12477932 163255 AL832100,AL832315,AL832687,BC017940,BC126478,BC126480,BX537980,AK290486,NM_152606,AC022148,CH471126,AB074186,AK122597,AK131388 BAF83175,CAD91161,CAD38611,AAH17940,AAI26479,AAI26481,CAD97942,Q05D58,Q3LIC5,Q8NDQ6,NP_689819,EAW56739,EAW56740,EAW56741,EAW56742,BAE45743,BAD18539 Hs.121283 DKFZp313K2238|DKFZp547B0714|FLJ16004|Nbla10512 protein-coding 1321846 ZNF541 zinc finger protein 541 1580863 15489334,12477932,11230166 84215 XM_001717930,XM_001716969,XM_001718013,AC010331,AC016589,AC073548,CH471126,AL136846,AL833862,BC101050,BC101051,BC101052,BC101053 XP_001717982,XP_001717021,XP_001718065,EAW57499,EAW57500,EAW57501,CAB66780,CAD38720,AAI01051,AAI01052,AAI01053,AAI01054,Q9H0D2 Hs.14161 DKFZp434I1930|MGC119518|MGC119519|MGC119521 protein-coding 1352644 ZNF542 zinc finger protein 542 15489334,12477932 147947 XR_017885,XR_017984,NR_003127,AC006116,CH471135,AK097128,AL833621,BC064603,BC089419,BX640680,BX647919 EAW72442,EAW72443,EAW72444,AAH89419,CAE45809,Q5EBM4 Hs.467326 DKFZp686B2197|DKFZp686I1219 pseudo 1603915 ZNF543 zinc finger protein 543 12477932 125919 NM_213598,AC005261,CH471135,AF024696,AK131547,AL834534,BC101012,BC101013,BC101014,BC101015 NP_998763,EAW72492,AAB81086,BAD18681,CAD39190,AAI01013,AAI01014,AAI01015,AAI01016,O14848,Q08ER8 Hs.202544 DKFZp434H055|MGC119382|MGC119384 protein-coding 1345922 ZNF544 zinc finger protein 544 15489334,12477932 27300 NM_014480,AC020915,CH471135,CB997427,CR597557,AF020591,AF024692,AK226080,AK290297,AK291656,AL833618,BC018980,BC042177,BC067271 NP_055295,EAW72568,O14844,Q6NX49,EAW72569,Q8IVS5,AAC01956,AAB81082,BAF82986,BAF84345,AAH42177,AAH67271 Hs.438994 protein-coding 1345340 ZNF545 zinc finger protein 545 737633,1580863 15489334,14702039,12477932,11853319 737633 284406 NM_133466,AC092296,AB075828,AK074942,AL834267,BC032577 NP_597723,BAB85534,BAC11308,CAD38942,AAH32577,Q8N141,ABZ92158 Hs.558734 KIAA1948|MGC45380 protein-coding 1354009 ZNF546 zinc finger protein 546 737633,1580863 15489334,14702039,12477932,1505991 737633 339327 NM_178544,AC007842,CH471126,AK122968,AK172809,AK292528,BC045649 NP_848639,EAW56930,EAW56931,BAD18779,BAF85217,AAH45649,Q6ZME9,Q86UE3 Hs.706839 MGC43537|ZNF49 protein-coding 1350845 ZNF547 zinc finger protein 547 1580863 15489334,14702039,12477932 284306 NM_173631,AC003002,CH471135,AK055662,AK291464,AL832545,BC042681 NP_775902,EAW72497,EAW72498,BAB70979,BAF84153,AAH42681,Q8IVP9,ABZ92157 Hs.446620 FLJ31100 protein-coding 1347267 ZNF548 zinc finger protein 548 737633 15489334,14702039,12477932 737633 147694 NM_152909,AC003002,CH471135,AK057494,BC030788 NP_690873,EAW72499,BAB71509,AAH30788,Q8NEK5 Hs.657353 FLJ32932 protein-coding 1344121 ZNF549 zinc finger protein 549 737633 15489334,14702039,12477932 737633 256051 NM_153263,AC003682,CH471135,AK092236,AK094139,AK122749,AK122766,AL833090,BC060863 NP_694995,AAC24605,EAW72509,EAW72510,EAW72511,EAW72512,BAC03834,AAH60863,O43336,Q6P9A3,ABZ92124 Hs.564295 FLJ34917 protein-coding 1349618 ZNF54A zinc finger protein 54a 1505991 7605 GDB:128672 1347081 ZNF54B zinc finger protein 54b 1505991 7606 GDB:128673 1346734 ZNF55 zinc finger protein 55 1580863 1946370,1505991 7607 M88365 AAA61323,Q15927 GDB:128674 protein-coding 1346032 ZNF550 zinc finger protein 550 737633,1580863 15592455,15489334,15057824,14702039,12477932 737633 162972 NM_001039654,AC003682,CH471135,AK122867,AL833214,BC034810,BC053858,BX538032 NP_001034743,AAC24606,EAW72513,AAH34810,AAH53858,CAD97977,Q7Z398,ABZ92116 Hs.180257 MGC41917 protein-coding 1348729 ZNF551 zinc finger protein 551 737633,1580863 15489334,15302935,14702039,12477932,2288909 737633 90233 NM_138347,AC004017,CH471135,AK091273,BC005868,BC041615,BX538151,X52354 NP_612356,EAW72524,BAC03625,AAH05868,AAH41615,CAD98037,CAA36580,Q7Z340 Hs.109540,Hs.656485 DKFZp686H1038|MGC52307 protein-coding 1351619 ZNF552 zinc finger protein 552 1580863 16344560,14702039,12477932,9373149,8125298 79818 NM_024762,AC010645,CH471135,AK025256,AK097041,AK225219,BC017460,BC046237,BC062982,BC082767,DA345819 NP_079038,EAW72535,BAB15093,AAH46237,AAH62982,AAH82767,Q9H707 Hs.560727 FLJ21603 protein-coding 1343499 ZNF553 zinc finger protein 553 1580863 15489334,14702039,12477932 197407 NM_152652,AC116348,CH471192,AK056313,AL832433,BC007393,BC041388 NP_689865,EAW52250,EAW52251,BAB71146,CAH10657,AAH07393,AAH41388,Q96MX3,ABZ92119 Hs.513501 DKFZp762K013|FLJ31751|MGC43952 protein-coding 1346175 ZNF554 zinc finger protein 554 737633 15489334,14702039,12477932,10737800 737633 115196 NM_001102651,AC006130,AC006538,CH471139,AK027860,AK092136,BC000113,BC047777,BF772510,DC319914 NP_001096121,EAW69361,EAW69362,EAW69363,BAC03814,AAH00113,AAH47777,Q86TJ5 Hs.307043 FLJ34817 protein-coding 1350400 ZNF555 zinc finger protein 555 737633 16381901,15489336,15489334,14702039,12477932,11230166,11076863 737633 148254 NM_152791,AC006130,CH471139,AK056659,AK093163,AK292954,AL832140,BC022022,BX647423 NP_690004,EAW69360,BAB71244,BAC04082,BAF85643,AAH22022,Q0JRX2,Q8NEP9,CAL38742,ABZ92112 Hs.47712 MGC26707 protein-coding 1353094 ZNF556 zinc finger protein 556 737633,1580863 15489334,14702039,12477932,9373149 737633 80032 AC006130,CH471139,AK021699,AK225297,BC009374,NM_024967 NP_079243,EAW69357,EAW69358,BAB13878,AAH09374,Q9HAH1,ABZ92063 Hs.287433 FLJ11637 protein-coding 1345414 ZNF557 zinc finger protein 557 737633 15851553,15489334,15231748,14702039,12477932,16189514 737633 79230 NM_024341,NM_001044388,NM_001044387,AC010606,CH471139,AK095524,AK315405,BC003020,BC031208,BC058040,CD723611 NP_077317,NP_001037853,NP_001037852,EAW69048,EAW69049,EAW69050,BAC04567,BAG37797,AAH03020,AAH31208,AAH58040,Q4G137,Q8N988 Hs.591380 FLJ96454|MGC4054 protein-coding 1348018 ZNF558 zinc finger protein 558 1580863 15231747,15489334,14702039,12477932 148156 NM_144693,AC008734,AC012616,CH471106,AK055494,AK291265,BC064356 NP_653294,EAW83994,EAW83995,BAB70934,BAF83954,AAH64356,Q96NG5,ABZ92111 Hs.659797 FLJ30932 protein-coding 1352023 ZNF559 zinc finger protein 559 737633,1580863 16189514,15489334,14702039,12477932 737633 84527 NM_032497,AC011451,CH471106,AB075488,AK027700,AK056489,AK092348,AL389937,BC006436,BC015058 NP_115886,EAW84026,EAW84027,EAW84028,EAW84029,EAW84030,BAE45747,AAH06436,Q3LIC1,Q9BR84,ABM84333,ABM87724 Hs.655107 MGC13105|Nbla00121 protein-coding 1350457 ZNF56 zinc finger protein 56 1580863 1946370,1505991 7608 M88366 AAA61324,Q15929 GDB:128675 protein-coding 1347483 ZNF560 zinc finger protein 560 1580863 16344560,15489334,14702039,12477932 147741 NM_152476,AC008567,AC011451,CH471106,AK056548,BC101039,BC101040,BC101041,BC101042,DA744260,T41372 NP_689689,EAW84037,BAB71213,AAI01041,AAI01042,AAI01043,Q96MR9,ABZ92107 Hs.631613 FLJ31986|MGC119490|MGC119493 protein-coding 1344239 ZNF561 zinc finger protein 561 737633,1580863 15489334,14702039,12477932 737633 93134 NM_152289,AC008759,CH471106,AK074787,AK122974,AK293004,BC012144,BC032668 NP_689502,EAW84043,BAC11209,BAF85693,AAH12144,AAH32668,Q8N587,Q8NCE4,ABZ92088 Hs.371107 MGC45408 protein-coding 1354483 ZNF562 zinc finger protein 562 14702039,12477932 54811 NM_017656,AC008759,CH471106,AK000086,AY346375,BC109062,CR613353 NP_060126,EAW84044,EAW84045,EAW84046,EAW84047,BAA90935,AAQ54330,AAI09063,Q32MN2,Q6V9R5,ABZ92342 Hs.655594 FLJ20079|MGC126160 protein-coding 1350383 ZNF563 zinc finger protein 563 737633,1580863 15489334,14702039,12477932 737633 147837 NM_145276,AC012618,CH471106,AK092116,BC022523 NP_660319,EAW84268,EAW84269,BAC03810,AAH22523,Q8TA94 Hs.663510 FLJ34797 protein-coding 1347487 ZNF564 zinc finger protein 564 1580863 15489334,14702039,12477932 163050 NM_144976,AC010422,AK092760,BC028367,BC065023,BX647959 NP_659413,BAC03967,AAH28367,AAH65023,Q6P1K6,Q8TBZ8 Hs.655615 FLJ38281|MGC26914 protein-coding 1344264 ZNF565 zinc finger protein 565 1580863 16344560,15489334,14702039,12477932 147929 NM_001042474,NM_152477,AC008848,AC012617,AA476586,AK057290,AK094310,BC068453,DA766324,DB473200 NP_001035939,NP_689690,BAC04328,AAH68453,Q8N9K5 Hs.651111 FLJ36991 protein-coding 1349368 ZNF566 zinc finger protein 566 737633,1580863 15489334,14702039,12477932 737633 84924 NM_032838,AC092295,AC092296,AK027685,AK074497,BC007064,BC104886,BC104888,BX649070 NP_116227,BAB55296,BAC11023,AAH07064,AAI04887,AAI04889,Q8N2S2,Q969W8,ABZ92076 Hs.646371 FLJ14779|MGC12515 protein-coding 1346041 ZNF567 zinc finger protein 567 737633,1580863 16189514,15489334,14702039,12477932 737633 163081 NM_152603,AC074138,AK093034,AK126691,BC033849,BX640706 NP_689816,AAH33849,CAE45826,Q8N184,ABM82260,ABM85443 Hs.412517 MGC45586 protein-coding 1342686 ZNF568 zinc finger protein 568 1580863 16344560,14702039,12477932 374900 NM_198539,AC008733,AK093123,AK095559,BC016334,BC031218,BC041927,BC108696,BC111777,BC131547,BX640681,DA010273 NP_940941,BAC04064,AAH16334,AAH31218,AAI31548,CAE45810,Q3ZCX4,Q96AZ9 Hs.404220 DKFZp686B0797|FLJ35804 protein-coding 1354291 ZNF569 zinc finger protein 569 737633 16793018,14702039,12477932,1946370,1505991 737633 148266 NM_152484,AC008806,CH471126,M88363,AK056615,AK122846,AK289987,AL833408,AY835704,BC032896,BC038737,BC059407,BC117219,CB151734 NP_689697,EAW56728,EAW56729,EAW56730,EAW56731,AAA61321,BAB71232,BAF82676,AAV97944,AAI17220,Q17RR6,Q5MCW4 Hs.511848 FLJ32053|ZAP1|ZNF protein-coding 1343175 ZNF57 zinc finger protein 57 15489334,12477932,1946370,1505991 126295 NM_173480,AC119403,CH471139,M88368,BC028974,BX537601,EF534355 NP_775751,EAW69355,EAW69356,AAA61326,AAH28974,CAH18455,ABQ10558,Q15931,Q68EA5,ABZ92096 Hs.591378 GDB:128676 ZNF424 protein-coding 1349071 ZNF570 zinc finger protein 570 1580863 14702039 148268 NM_144694,AC008806,CH471126,AK055353,BC130425,BC130433 NP_653295,EAW56732,BAB70908,AAI30426,AAI30434,Q96NI8 Hs.350875 FLJ30791 protein-coding 1345171 ZNF571 zinc finger protein 571 1580863 16381901,15489336,15489334,14702039,12477932,11256614,11230166,11076863,11042152 51276 NM_016536,AC022148,CH471126,AF161544,AK055039,AK291413,BC040591,BC113870,BC114479,BX537401 NP_057620,EAW56737,EAW56738,AAF29031,BAF84102,AAH40591,AAI13871,AAI14480,CAD97643,Q0JUK7,Q24JS6,Q7Z3V5,CAL37804,ABZ92332 Hs.590944 HSPC059|MGC138690 protein-coding 1353007 ZNF572 zinc finger protein 572 1580863 16381901,14702039,11230166,15489336,11076863 137209 NM_152412,AC009908,CH471060,AK095321,BC130515,BC130517,BX537876 NP_689625,EAW92077,BAC04529,AAI30516,AAI30518,CAD97876,Q7Z3I7,CAL38262 Hs.175350 FLJ38002 protein-coding 1350499 ZNF573 zinc finger protein 573 737633,1580863 15489334,14702039,12477932 737633 126231 NM_152360,AC016582,AC093227,CH471126,AK055483,AK074539,BC015418,BC029468,BC042170,BC051263,BC064962 NP_689573,EAW56751,EAW56752,EAW56753,BAB70929,BAC11047,AAH15418,AAH29468,AAH42170,AAH51263,AAH64962,Q6PIT4,Q86YE8,ABZ92095 Hs.531262 FLJ30921 protein-coding 1322875 ZNF574 zinc finger protein 574 737633 16964243,16344560,15489334,14702039,12477932,9373149,8125298 737633 64763 AC022515,CH471126,AF447880,AK025712,AK027895,AK074788,AK131369,AK131418,AK225342,AL137516,BC001184,BC071962,DA404303,NM_022752 NP_073589,EAW57093,AAQ04655,BAB15225,BAC11210,BAD18520,BAD18565,CAB70782,AAH01184,AAH71962,Q6ZN55,Q71MF7,Q9NT61 Hs.13323 FLJ22059|FP972 protein-coding 1312810 ZNF575 zinc finger protein 575 737633,1580863 15489334,14702039,12477932 737633 284346 NM_174945,AC018758,CH471126,AK057129,BC043611,CR597282 NP_777605,EAW57198,EAW57199,EAW57200,AAH43611,Q86XF7 Hs.213534 FLJ32567 protein-coding 1353037 ZNF576 zinc finger protein 576 737633 17081983,15489334,14702039,12477932 737633 79177 NM_024327,AC006276,CH471126,CS072412,AK026353,BC002981,CR621953 NP_077303,EAW57206,EAW57207,EAW57208,CAI93550,BAB15458,AAH02981,Q9H609,ABZ92055 Hs.11110 FLJ22700|MGC2508 protein-coding 1350365 ZNF577 zinc finger protein 577 737633,1580863 15489334,14702039,12477932 737633 84765 AC011460,AC074141,CH471135,AK093036,AK289479,AK291812,AL832871,BC004992,BC030610,NM_032679,BC035367 EAW72046,EAW72047,EAW72048,EAW72049,BAF82168,BAF84501,AAH04992,NP_116068,Q9BSK1,ABZ92072 Hs.148322 MGC4400 protein-coding 1346407 ZNF578 zinc finger protein 578 1580863 14702039,12477932 147660 NM_001099694,AC010332,AC010506,AC022150,AB091373,AB091374,AB091375,AB091376,AK055946,AK095562,BC103904,BC115704,BX955279 NP_001093164,BAE93189,BAE93190,BAE93191,BAE93192,BAB71051,BAC04574,AAI03905,AAI15705,Q1T7F1,Q3MI94,Q8N981,Q96N58 Hs.157287 FLJ31384 protein-coding 1318265 ZNF579 zinc finger protein 579 1580863 16964243,15302935,15146197,14702039 163033 NM_152600,AC008735,CH471135,CQ859782,CQ859784,AK092772,AW003562,BC042926,CN340494,CX781546 NP_689813,EAW72390,CAH25941,CAH25942,BAC03972,Q8NAF0 Hs.112529 FLJ35453 protein-coding 1315767 ZNF580 zinc finger protein 580 16189514,15489334,12477932,8889548 51157 NM_207115,NM_016202,AC008735,CH471135,AF184939,AK123294,AL359054,BC017698,BM700178,BM710177,BQ477323,BU179609,CR609067,CR616291 NP_996998,NP_057286,EAW72399,AAD56549,BAC85575,CAB94389,AAH17698,Q6ZWC9,Q9UK33 Hs.631551 protein-coding 1343314 ZNF581 zinc finger protein 581 737633,1580863 16189514,15489334,12477932,11042152 737633 51545 NM_016535,AC008735,CH471135,AF151023,AK026203,BC001219,BC010097,BC071620,BC071845,CR601401,CR609477,CR619004 NP_057619,EAW72400,AAF36109,AAH01219,AAH10097,AAH71620,AAH71845,Q9P0T4,ABM84519,ABM85847 Hs.20768 FLJ22550|HSPC189 protein-coding 1353424 ZNF582 zinc finger protein 582 737633,1580863 15489334,14702039,12477932 737633 147948 NM_144690,AC006116,CH471135,AK055489,BC011796,BC056238,BC101008,BC101009,BC101010,BC101011 NP_653291,EAW72445,EAW72446,EAW72447,EAW72448,BAB70931,AAH11796,AAI01012,Q96NG8,AAI01009,AAI01010,AAI01011,ABZ92108 Hs.244391 FLJ30927 protein-coding 1350167 ZNF583 zinc finger protein 583 1580863 15489334,14702039,12477932 147949 NM_152478,AC006116,CH471135,AF024698,AK055592,AL833236,BC111772 NP_689691,EAW72452,AAB81088,BAB70964,AAI11773,Q96ND8,ABZ92109 Hs.146854,Hs.638578 FLJ31030|MGC133237 protein-coding 1348200 ZNF584 zinc finger protein 584 737633,1580863 15489334,14702039,12477932 737633 201514 NM_173548,AC012313,CH471135,AK097218,AK290068,BC017651,BC033149,CR596442 NP_775819,EAW72587,EAW72588,EAW72589,BAF82757,AAH17651,AAH33149,Q8IVC4,Q8WVQ2,ABZ92122 Hs.439551 FLJ39899 protein-coding 1604726 ZNF585A zinc finger protein 585A 15489334,14702039,12477932 199704 AK123296,AK290660,BC026081,BC039557,BC052956,BC063820,BG771823,CA446889,NM_152655,NM_199126,AC012309,AF086428,AK056389,AK074345 BAB85057,BAF83349,AAH26081,AAH63820,Q6P3V2,Q8TC43,NP_689868,NP_954577,BAB71174 Hs.390568,Hs.659236 FLJ23765|FLJ31827 protein-coding 1353931 ZNF585B zinc finger protein 585B 737633 15489334,14702039,12477932 737633 92285 NM_152279,AC012309,AK027834,AK091586,AK094989,AY147015,BC029737,BC051277,BC067088,BC080550,BC093625 NP_689492,BAB55400,AAN61169,AAH93625,Q52M93,Q8N7B4,ABZ92085 Hs.631552 FLJ14928|SZFP41 protein-coding 1348673 ZNF586 zinc finger protein 586 737633,1580863 16344560,14702039,12477932 737633 54807 NM_017652,NM_001077426,AC003006,CH471135,AB074270,AK000077,AK095993,BC041660,BC051325,BC124558,DA904413 NP_060122,NP_001070894,EAW72533,EAW72534,BAA90930,AAI24559,Q9NXT0 Hs.709730 FLJ20070 protein-coding 1346702 ZNF587 zinc finger protein 587 1580863 15489334,15231748,14702039,12477932,10520746,16189514 84914 NM_032828,AC010326,AC010522,CH471135,AF294842,AK000820,AK026676,AK027616,AK055448,AK095812,AK122919,AK160374,BC011243,BC011810,BC017219,BC126237,BC126239,U71363 NP_116217,EAW72538,AAK58839,BAA91388,BAB15523,BAB55235,BAD18717,AAH17219,AAI26238,AAI26240,AAB16809,Q92967,Q96JB9,Q96SQ5,Q9NWJ2 Hs.288995,Hs.642598 FLJ14710|FLJ20813|ZF6 protein-coding 1343483 ZNF588 zinc finger protein 588 1580863 10673043,15489334,15231748,12477932 51427 Q8WVL4,Q9H3U2,Q9UII5 NM_016220,NM_001013746,AC091799,CH471204,AB014735,AB027251,BC017809,BC047243 NP_057304,NP_001013768,EAW77973,EAW77974,EAW77975,EAW77976,EAW77977,EAW77978,BAB20272,BAA85623,AAH17809,AAH47243,Q8WVL4,Q9H3U2,Q9UII5 Hs.50216 ZFD25|smap-7 protein-coding 1353484 ZNF589 zinc finger protein 589 1580863 12477932,10029171 51385 BC008213,BC028160,BC048798,BC062690,AB209387,NM_016089,AC104190,CH471055,AF114816,AF114817,AL832831,AY258146,BC005859,BC006247 AAH06247,AAH08213,AAH48798,Q59FS2,Q86UQ0,Q96JS8,NP_057173,EAW64855,EAW64856,EAW64857,EAW64858,EAW64859,EAW64860,AAD38879,AAD38880,CAI46129,AAP14679,AAH05859,BAD92624,AAI66625 Hs.172602 SZF1 protein-coding 1348055 ZNF59 zinc finger protein 59 7550 GDB:128678 1318632 ZNF592 zinc finger protein 592 1580863 15302935,17081983,15489334,15231748,14702039,12477932,9039502 9640 NM_014630,AC012291,CH471101,AA835974,AK090507,BC040038,BC094688,BC112232,BC112234,BG757479,BQ217254,CR590370,D86966 NP_055445,EAX01957,EAX01958,EAX01959,AAH94688,AAI12233,AAI12235,BAA13202,Q2M1T2,Q92610 Hs.79347 KIAA0211|MGC138437|MGC138439 protein-coding 1320928 ZNF593 zinc finger protein 593 737633,1580863 9115366,18287285,16344560,15489334,12477932,12429849 737633 51042 NM_015871,AL391650,CH471059,AI083892,BC002580,BC019267,D45213,DA124660 NP_056955,CAI17137,EAX07843,AAH02580,AAH19267,BAA20369,O00488,Q5T2H7,ABZ92327 Hs.477273 ZT86 protein-coding 1343049 ZNF594 zinc finger protein 594 1580863 16344560,11347906,11181995,7865130 84622 NM_032530,AC012146,AC087500,CH471108,AB058774,AK131271,AL833185,AY500358,BX472376,DA448705 NP_115919,EAW90352,EAW90353,BAB47500,BAD18449,AAS55108,Q6ZNC6,Q96JF6 Hs.658402 DKFZp667J055 protein-coding 1352410 ZNF595 zinc finger protein 595 737633,1580863 15489334,14702039,12477932 737633 152687 NM_182524,CH471131,AK056302,BC036110,BC043151,BX537887 NP_872330,EAW82675,AAH36110,AAH43151,CAD97883,Q7Z3I0,Q8IYB9 Hs.428579 FLJ31740 protein-coding 1353829 ZNF596 zinc finger protein 596 737633,1580863 16421571,16344560,15489334,14702039,12477932 737633 169270 NM_173539,NM_001042416,NM_001042415,AC004908,CH471181,BC026190,CR747438,DA685143,DA714658,DB053699,DN995476,DR006332 NP_775810,NP_001035881,NP_001035880,AAD05197,EAW51447,AAH26190,Q8TC21 Hs.591388 FLJ36123 protein-coding 1351139 ZNF597 zinc finger protein 597 737633,1580863 15489334,14702039,12477932 737633 146434 NM_152457,AC025283,CH471112,AK057633,BC029899 ABZ92104,NP_689670,EAW85367,BAB71538,AAH29899,Q96LX8 Hs.88630 FLJ33071 protein-coding 1312605 ZNF598 zinc finger protein 598 737633 16094384,15592455,15489334,14702039,12477932 737633 90850 NM_178167,AC005606,CH471112,AK024487,AL834428,BC010990,BC029270,BC041015,BC050477 NP_835461,EAW85569,EAW85570,EAW85571,EAW85572,EAW85573,EAW85574,EAW85575,BAB15777,CAD39089,AAH10990,AAH41015,AAH50477,Q86UK7 Hs.343828 DKFZp762F135|FLJ00086 protein-coding 1603572 ZNF599 zinc finger protein 599 15489334,14702039,12477932 148103 NM_001007248,AC020910,AK055225,BC033354,BC044615,BC092428,CR624140 NP_001007249,BAB70879,AAH44615,AAH92428,Q96NL3,ABZ92110 Hs.590961 protein-coding 1349599 ZNF60 zinc finger protein 60 1505991 7611 GDB:128679 1343964 ZNF600 zinc finger protein 600 1580863 14702039,12576331 162966 NM_198457,AC008813,CH471135,AK075230,AK131231,BX640933,U52096 NP_940859,EAW72095,EAW72096,BAD18414,CAE45968,AAA97912,Q13580,Q6ZNG1,Q8N692 Hs.696848 DKFZp686F06123|KR-ZNF1 protein-coding 1346158 ZNF601P zinc finger protein 601 pseudogene 493824 1349597 ZNF602P zinc finger protein 602 pseudogene 493820 1346602 ZNF603P zinc finger protein 603 pseudogene 493821 1344825 ZNF604P zinc finger protein 604 pseudogene 493817 1353121 ZNF605 zinc finger protein 605 14702039,12477932 90462 NM_183238,AC073911,AC127070,CH471218,AK027873,AK122878,AL832191,AL832623,BC020877 NP_899061,EAW54805,EAW54806,EAW54807,CAD91163,CAD89946,AAH20877,Q86T29 Hs.29698 FLJ14967 protein-coding 1320347 ZNF606 zinc finger protein 606 737633,1580863 15964554,15489334,14702039,12477932,11347906,8889549 737633 80095 NM_025027,AC008969,AC010326,CH471135,AA033715,AB058755,AF455357,AK024322,AK056696,AK293097,BC022533,BC036570,BC037209 NP_079303,EAW72546,EAW72547,EAW72548,BAB47481,AAL58442,BAB14883,BAF85786,AAH37209,Q8WXB4,Q9H7U2 Hs.654967 FLJ14260|KIAA1852|ZNF328 protein-coding 1343824 ZNF607 zinc finger protein 607 737633 16189514,15489334,14702039,12477932 737633 84775 NM_032689,AC093227,CH471126,AB209242,AK027708,AK127464,AK131557,AK131559,BC005085,BC014850 NP_116078,EAW56748,EAW56749,EAW56750,BAD92479,BAB55313,BAD18691,BAD18693,AAH05085,AAH14850,Q59G67,Q6ZMN2,Q6ZMN4,Q96SK3,Q9BSE8 Hs.334518 FLJ14802|MGC13071 protein-coding 1315658 ZNF608 zinc finger protein 608 15489334,15146197,14702039,12477932,12168954,10574462,10508479 57507 NM_020747,AC112196,AC113398,CH471086,AB033107,AF155106,AK056247,AL117587,BC038370,BC045828,BC103742,BC131507,BC151226,CN406017,CR749624 NP_065798,EAW48858,EAW48859,EAW48860,EAW48861,BAA86595,AAD42872,CAB56008,AAH38370,AAI03743,AAI31508,AAI51227,CAH18418,Q9UFL4,Q9ULD9 Hs.266616,Hs.705876 DKFZp781C0723|MGC166851|NY-REN-36 protein-coding 1349333 ZNF609 zinc finger protein 609 737633,1580863 17081983,16713569,16572171,16341674,15489334,12477932,9205841 737633 23060 NM_015042,AC090543,AC091231,CH471082,AB002293,AW956219,BC000648,BC009226,BC014251,BC029441,BC050315,BC084543,BC110401,BC142647,BM791986 NP_055857,EAW77686,EAW77687,EAW77688,BAA20755,AAI10402,AAI42648,O15014 Hs.595451,Hs.683434,Hs.696256 KIAA0295|MGC164858 protein-coding 1354121 ZNF610 zinc finger protein 610 737633,1580863 15489334,14702039,12477932 737633 162963 NM_173530,AC010320,CH471135,AK093359,AK290888,AL831871,BC039903,BC105967 NP_775801,EAW72073,EAW72074,EAW72075,BAC04144,BAF83577,CAD38559,AAH39903,AAI05968,Q8N9Z0,ABZ92115 Hs.357663 DKFZp547A1010|FLJ36040|MGC102679 protein-coding 1351809 ZNF611 zinc finger protein 611 737633,1580863 14702039,12477932 737633 81856 NM_030972,AC008813,AC022150,CH471135,AK021787,AK091389,AK097434,AL834123,BC000918,BC028590 NP_112234,EAW72093,EAW72094,BAC05052,CAH10596,AAH00918,Q8N823,Q9BVV0 Hs.143951 MGC5384 protein-coding 1346771 ZNF613 zinc finger protein 613 737633 15489334,14702039,12477932 737633 79898 NM_024840,NM_001031721,AC011460,CH471135,AK023652,AK027565,BC057776 NP_079116,NP_001026891,EAW72052,EAW72053,EAW72054,EAW72055,BAB14628,BAB55201,AAH57776,Q6PF04,Q9H8I8 Hs.183390 FLJ13590 protein-coding 1342737 ZNF614 zinc finger protein 614 737633,1580863 15489334,14702039,12477932 737633 80110 NM_025040,AC011468,CH471135,AK023547,AK025594,AK097156,BC004930,BC022246,BC101392,BC101393,BC101394,BC101395,BG179764,BG286230,BG436055,BG493979,BG687087,BI913696,BM129588,BQ025846,BU154861 NP_079316,EAW72058,EAW72061,BAB15184,BAC04966,AAH04930,AAH22246,AAI01393,AAI01394,AAI01395,AAI01396,Q8N883,Q9BSN8,Q9H6R9 Hs.292336 FLJ21941|MGC120638 protein-coding 1353580 ZNF615 zinc finger protein 615 737633,1580863 14702039,12477932 737633 284370 NM_198480,AC011460,AC011468,AK091029,AK094071,AK096691,AK128361,AK131494,AK291734,BC053884,BC105100,BC105102,BC112961,BX647556,BX648594,CR936612 NP_940882,BAC03571,BAC04843,BAC87399,BAD18638,BAF84423,AAI05101,AAI05103,CAI56755,Q8N8J6,Q8NBC2 Hs.368355 DKFZp686O1554|FLJ33710|FLJ39372 protein-coding 1605318 ZNF616 zinc finger protein 616 15489334,14702039,12477932 90317 BC033199,BC125099,BC125100,CD048470,NM_178523,AC011468,AK025434,AK092266,AL832969,BC032805 AAH32805,AAH33199,AAI25100,AAI25101,Q08AN0,Q08AN1,Q8N545,NP_848618,CAH56353 Hs.645225,Hs.656670 MGC149778|MGC45556 protein-coding 1349101 ZNF617 zinc finger protein 617 404666 1321825 ZNF618 zinc finger protein 618 737633,1580863 12477932,11853319 737633 114991 BC036039,BC053892,BC130642,BC130644,BI463128,NM_133374,AL137850,AL162393,CH471090,AB075832,AF147430,AF495724,AJ420454,AK126896,BC012922 AAH12922,AAH36039,AAH53892,AAI30643,AAI30645,Q5T7W0,Q71JB3,Q8TF49,NP_588615,CAI15896,CAI15898,EAW87401,EAW87402,EAW87403,BAB85538,AAQ06678,BAC86741 Hs.349208 FP13169 protein-coding 1343654 ZNF619 zinc finger protein 619 1580863 14702039,12477932 285267 NM_173656,AC121754,CH471055,CQ783354,AK075245,BC117169 NP_775927,EAW64611,EAW64612,CAF86560,BAC11495,AAI17170,Q17RW3,Q8N2I2 Hs.407159 FLJ90764 protein-coding 1606672 ZNF620 zinc finger protein 620 14702039,12477932 253639 AC121754,CH471055,NM_175888,AK093599,AK131232,BC044953 NP_787084,EAW64613,EAW64614,EAW64615,EAW64616,BAC04203,BAD18415,Q6ZNG0,AAI48387,AAI53009 Hs.581541 MGC50836 protein-coding 1354066 ZNF621 zinc finger protein 621 16344560,15489334,14702039,12477932 285268 NM_198484,NM_001098414,AC122683,AK074366,BC101619,BC113415,CR749268,DA282973,DB480668,AK127181 NP_940886,NP_001091884,AAI01620,AAI13416,CAH18124,Q6ZSS3,ABZ92159,BAC86873,BAB85061 Hs.19977 DKFZp686B11107|FLJ23786|FLJ45246|MGC126668 protein-coding 1319325 ZNF622 zinc finger protein 622 1580863 15635413,15489334,12645566,12477932,11802789,16189514 90441 NM_033414,AC020980,CH471102,AY046059,BC008752,BC010545,CR591618,CR599167,CR604339,CR605829,CR609231,CR624161,CR624583,CR626791 NP_219482,EAX08025,AAL02121,AAH08752,AAH10545,Q969S3 Hs.60300 MGC17552|MGC2485|ZPR9 protein-coding 1345531 ZNF623 zinc finger protein 623 1580863 16344560,15489334,12477932,9734811 9831 NM_014789,AC067930,AC105210,CH471162,AB014528,AW161801,BC067516,BC067517,BC067518,BC075056,NM_001082480,BC075057,BC112899,BF983220,BX477157,DA100931,DA211779,DB161675,DB227885,DB452301 NP_001075949,NP_055604,EAW82215,EAW82216,BAA31603,AAH67516,AAH67517,AAH67518,AAH75056,AAH75057,AAI12900,O75123,ABZ92283 Hs.43133,Hs.694018 MGC103965|MGC104128 protein-coding 1342948 ZNF624 zinc finger protein 624 10718198,16344560,12477932 57547 NM_020787,AC005822,AC092714,AC098850,CH471222,AB037770,AI913542,AK131401,BC103943,BC103944,BC103945,BC103946,DA318803 NP_065838,EAX04519,BAA92587,BAD18548,AAI03944,AAI03945,AAI03947,Q3SY62,Q3SY63,Q6ZN27,Q9P2J8 Hs.128078 KIAA1349|MGC119602|MGC119603|MGC119605 protein-coding 1352371 ZNF625 zinc finger protein 625 737633,1580863 15489334,12477932 737633 90589 NM_145233,AC022415,CH471106,AK292455,BC007868,BC101589,BC101591 NP_660276,EAW84261,EAW84262,EAW84263,BAF85144,AAH07868,AAI01590,AAI01592,Q96I27,ABZ92080 Hs.512823 protein-coding 1322437 ZNF626 zinc finger protein 626 737633,1580863 12477932 737633 199777 NM_145297,AC010636,CH471106,AA525169,AK091329,AK096221,BC007116,BC107803,BX648764,CR749233,NM_001076675 NP_001070143,NP_660340,EAW84878,EAW84879,BAC04729,AAH07116,AAI07804,CAH18089,Q68DY1,Q6ZMM5,Q96QM1,ABZ92121 Hs.657001 MGC104224 protein-coding 1347134 ZNF627 zinc finger protein 627 737633 18077766,17967605,15489334,14702039,12477932,12016960 737633 199692 CQ783708,AF024694,AK074846,AK075063,AK095639,BC006279,BC069232,BC098416,NM_145295,AC020947,AC104527,CH471106 EAW84236,EAW84237,CAF86822,AAB81084,BAC11240,BAC11379,AAH06279,AAH69232,AAH98416,Q7L945,Q8NC25,ABZ92120,NP_660338 Hs.526665 FLJ90365 protein-coding 1606755 ZNF628 zinc finger protein 628 Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM] 15556296,15489334,12477932 89887 NM_033113,AC008735,AF367249,BC016036,BC047332,BC089449 NP_149104,AAK68716,AAH47332,AAH89449,Q5EBL2,Q96JA5 Hs.525209 MGC105139|ZEC|Zfp628 protein-coding 1314773 ZNF629 zinc finger protein 629 1580863 9205841,1946370,1505991 23361 NM_001080417,AC106886,CH471192,M88374,AB002324,AK026115,BC015676,BC047041,BC080594 NP_001073886,EAW52195,AAA61332,BAA20784,Q9UEG4 Hs.301094 KIAA0326|ZNF|ZNF65 protein-coding 1352479 ZNF63 zinc finger protein 63 7614 GDB:128682 1352524 ZNF630 zinc finger protein 630 16344560,15489334,12477932 57232 NM_001037735,CH471164,Z98304,AK000580,AK307979,AK308650,BC037316,BC112139,BX116378,DA114160,DC353064 NP_001032824,EAW59337,EAW59338,CAI42941,AAI12140,Q0D2N9,Q2M218,Q5H8Z5,ABZ92359 Hs.189690 FLJ20573|FLJ97927|FLJ98691|MGC138344|dJ54B20.2 protein-coding 1349975 ZNF638 zinc finger protein 638 The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. 8647861,17081983,16964243,16565220,16189514,15815621,15489334,15302935,14702039,12477932,11813260,11149944,9757574,15778465 27332 NM_001014972,AC007878,AC096569,AC104084,AC109343,BX649179,CH471053,AF273049,AF534078,AK093578,AK098006,NM_014497,AK128706,AK291198,BC010355,BC024000,BC064530,BC083513,BX537425,CR591856,CR749322,D83032 NP_055312,NP_001014972,AAF66079,AAY14979,AAX82028,EAW99767,EAW99768,EAW99769,EAW99770,EAW99771,EAW99772,AAG34909,AAM97681,BAC87583,BAF83887,AAH24000,AAH64530,AAH83513,CAD97667,CAH18177,BAA11748,Q14966,Q57Z90,Q6ZQV0 Hs.434401 DKFZp686P1231|MGC26130|MGC90196|NP220|ZFML|Zfp638 protein-coding 1353900 ZNF639 zinc finger protein 639 737633,1580863 16713569,16051665,15489334,14522885,12477932 737633 51193 NM_016331,AC007823,CH471052,AB097862,AF003924,BC020500,BC026181,CR614635,CR616193,CR617398 NP_057415,EAW78413,EAW78414,EAW78415,EAW78416,BAC77610,AAF21240,AAH20500,AAH26181,Q9UID6,ABZ92331 Hs.632578 6230400O18Rik|ANC-2H01|ANC_2H01|ZASC1 protein-coding 1343222 ZNF64 zinc finger protein 64 1505991 7615 GDB:128683 1606174 ZNF641 zinc finger protein 641 16343441,14702039,12477932 121274 NM_152320,AC024257,CH471111,AK055857,AK092740,AL713659,AY842285,BC018090 NP_689533,EAW57980,EAW57981,EAW57982,BAB71031,CAD28468,AAW28082,AAH18090,Q96N77 Hs.23492 DKFZp667D1012|FLJ31295 protein-coding 1343701 ZNF642 zinc finger protein 642 16710414,16344560,15489334,14702039,12477932,10737800,8889548 339559 NM_198494,AL603839,CH471059,AK122618,BC041873,BC078148,BM677727,CV374692,CX871163,DA687888 NP_940896,CAI16297,EAX07215,BAC85492,AAH41873,Q49AA0 Hs.434385 FLJ16030|RP11-656D10.2|Zfp69 protein-coding 1350662 ZNF643 zinc finger protein 643 737633,1580863 15489334,14702039,12477932 737633 65243 NM_023070,AL031985,CH471059,AK091612,AL137241,BC017498,CR611654 NP_075558,CAI19856,CAI19857,EAX07216,EAX07217,EAX07218,EAX07219,CAB70626,AAH17498,Q5QPL3,Q9UJL9,ABZ92050 Hs.133034 FLJ34293|RP11-656D10.1 protein-coding 1604575 ZNF644 zinc finger protein 644 16710414,15489334,15302935,14702039,12477932,11042152,10574462 84146 NM_032186,NM_201269,NM_016620,AL136109,CH471097,AB019255,AB033047,AF208847,AK001587,AK023596,AK024026,AK291520,BC031003,BC041138,BC050656,BC063683,BC092462,BC110841,BC132776,BC132778,BC150177,BI760689 NP_115562,NP_958357,NP_057704,CAI23362,CAI23363,EAW73118,BAD32777,BAA86535,AAF64261,BAA91773,BAB14618,BAB14785,BAF84209,AAH31003,AAH50656,AAH63683,AAH92462,AAI10842,AAI32777,AAI32779,Q569I6,Q8NEI6,Q9H582,Q9H835,Q9H8J8,Q9NVH8,Q9NZF0,AAI50178,Q2TAM0 Hs.173001 BM-005|KIAA1221|MGC60165|MGC70410|Zep-2 protein-coding 1345445 ZNF645 zinc finger protein 645 1580863 15772651,15489334,14702039,12477932 158506 NM_152577,BX293560,CH471074,AK098601,BC074910,BC126190,BC126192 NP_689790,CAI40652,EAW98989,BAC05348,AAH74910,AAI26191,AAI26193,Q8N7E2 Hs.132485 FLJ25735|HAKAIL protein-coding 1351485 ZNF646 zinc finger protein 646 1580863 12477932,9205841,16189514 9726 NM_014699,AC135050,CH471192,AB002294,BC035589 NP_055514,EAW52170,EAW52171,BAA20756,AAH35589,O15015,Q8IVD8 Hs.119273 KIAA0296 protein-coding 1606465 ZNF648 zinc finger protein 648 17081983,16710414 127665 NM_001009992,AL355482,AK128654,BC137223,BC137224 NP_001009992,CAI15305,AAI37224,AAI37225,Q5T619 Hs.684328 protein-coding 1606512 ZNF649 zinc finger protein 649 16381901,15950191,15489336,15489334,14702039,12477932,11230166,11076863,9373149,8125298 65251 NM_023074,AC011460,CH471135,AF086241,AK000909,AK022706,AK225480,AL713677,BC005368,CR590368 NP_075562,EAW72050,BAB14191,CAD28482,AAH05368,Q9BS31,CAL38213 Hs.567573 FLJ12644 protein-coding 1350374 ZNF65 zinc finger protein 65 1505991 7616 GDB:128684 1350708 ZNF652 zinc finger protein 652 16966434,12477932,10231032 22834 NM_014897,AC004797,AC091180,CH471109,AB023141,AK292667,BC034987,BC139779,BC152440,CR933680 NP_055712,EAW94682,EAW94683,BAA76768,BAF85356,AAI39780,AAI52441,CAI45974,Q9Y2D9 Hs.463375 DKFZp781E2122|KIAA0924 protein-coding 1347968 ZNF653 zinc finger protein 653 737633,1580863 12920234,12477932,15489334 737633 115950 NM_138783,AC008481,AK131037,AY072704,BC014187,BC016816 NP_620138,AAL66763,AAH14187,AAH16816,Q96CK0 Hs.465928 E430039K05Rik|ZIP67 protein-coding 1345360 ZNF654 zinc finger protein 654 14702039 55279 NM_018293,AC119733,AC128650,CH471110,AF543494,AK001859,AK024795,AL357201 NP_060763,EAW68861,EAW68862,AAN40504,BAA91946,BAB15007,Q8IZM8,AAI48425,AAI53005 Hs.591650,Hs.661116 FLJ10997|FLJ21142 protein-coding 1351627 ZNF655 zinc finger protein 655 This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. 15558030,16341674,16314882,16189514,15489334,14702039,12853948,12690205,12477932,11179890,9373149,8125298 79027 NM_001083956,NM_138494,NM_024061,NM_001085366,NM_001085368,NM_001009960,NM_001085367,NM_001009958,NG_000004,AC005020,CH236956,CH471091,AK027114,AK054750,AK057245,AK098231,AK122929,AK128057,AK225976,AY099353,BC000823,BC004288,BC007378,BC011816,BC024770,BC037407,BC063478,BE293580,BI548533,BI912391,BM829333,BX490067,CR591940,CR621628,CR749270,DN993232 NP_001077425,NP_612503,NP_076966,NP_001078835,NP_001078837,NP_001009960,NP_001078836,NP_001009958,AAS02017,EAL23870,EAL23871,EAW76648,EAW76649,EAW76650,EAW76651,BAB71394,AAM33786,AAH00823,AAH07378,AAH11816,AAH24770,AAH37407,CAH18126,Q68DU4,Q8N720,Q96MB4,Q9BQ85,ABZ92053,AAH04288 Hs.696221 DKFZp686M1631|FLJ23461|MGC10859|MGC16203|MGC5521|VIK|VIK-1 protein-coding 1345425 ZNF658 zinc finger protein 658 16344560,15489334,15164053,14702039,12477932,11181995 26149 NM_033160,AL353770,BX664608,CH878355,AA657471,AI123536,AI308081,AK022636,AK024222,AK057375,AK292150,AL110217,BC031626,BX479383,DA120232,DA404383 NP_149350,CAM18525,EAW50476,BAB14145,BAB71457,BAF84839,CAB53677,AAH31626,Q5TYW1 Hs.522147 DKFZp572C163|FLJ32813|MGC35232 protein-coding 1603811 ZNF658B zinc finger protein 658B 15164053,14702039 401509 NM_001032297,XM_001713868,AL590491,AL954139,AK095694 NP_001027468,XP_001713920,BAC04610,Q4V348 Hs.534812 protein-coding 1353056 ZNF66 zinc finger protein 66 16344560,12477932,1946370,1505991 7617 XM_001132102,XM_001128444,AC010329,M88375,AK131420,BC067843,DA792668 XP_001132102,XP_001128444,AAA61333,BAD18567,AAH67843,Q4G0J2,Q6ZN08 Hs.658748 GDB:128685 FLJ16537|MGC87430 protein-coding 1346042 ZNF660 zinc finger protein 660 15489334,14702039,12477932 285349 CH471055,NM_173658,AC099669,AK094189,BC075094,BC075095,BX538171 NP_775929,EAW64713,BAC04303,AAH75094,AAH75095,CAD98047,Q6AZW8 Hs.669324 FLJ36870 protein-coding 1602806 ZNF662 zinc finger protein 662 14702039 389114 Q6ZS27 NM_207404,AC092043,CH471055,AK054699,AK090754,AK127779,AK128676,AK131235,BC128085 NP_997287,EAW64683,EAW64684,EAW64685,BAC87129,BAC87565,BAD18417,AAI28086,Q6ZS27 Hs.656856 FLJ45880|MGC149141 protein-coding 1606961 ZNF664 zinc finger protein 664 15489336,14702039,12477932,11256614,11230166,11076863,8634327,16381901 144348 NM_152437,AC068790,CH471054,CS300563,AK023009,AK056034,AL834266,BC017960,BC037793,BC051696,BC093848,BC101530,BX647762,CR607556,L41669 NP_689650,EAW98441,EAW98442,EAW98443,EAW98444,EAW98445,EAW98446,CAK32227,CAD38941,AAH17960,AAH51696,AAH93848,AAI01531,CAH10567,AAC41997,Q0P6D9,Q8N3J9,CAL37684,ABZ92103 Hs.524828 DKFZp761B128|MGC126579|ZFOC1 protein-coding 1605935 ZNF665 zinc finger protein 665 16344560,14702039 79788 NM_024733,AC092070,AK096261,AK291403,AL832507,DA696332 NP_079009,BAF84092,Q9H7R5 Hs.590980 FLJ14345|ZFP160L protein-coding 1603200 ZNF667 zinc finger protein 667 17397802,15489334,14702039,12477932 63934 NM_022103,AC006116,AC013256,AC098795,CH471135,AK024073,AK056508,AK096513,AK126957,BC074898,BC074899,BC136388,BX647401,CR936605 NP_071386,AAF06067,EAW72453,EAW72454,BAB14816,AAH74898,AAH74899,AAI36389,CAI46040,CAI56751,Q5CZB4,Q5HYK9,Q9ULA1 Hs.712574 DKFZp686O111|FLJ14011|MIPU1 protein-coding 1605939 ZNF668 zinc finger protein 668 15489334,14702039,12477932 79759 NM_024706,AC135050,CH471192,AB209710,AK023541,AK027398,AK289899,BC021997,BC047516 NP_078982,EAW52172,EAW52173,EAW52174,BAD92947,BAB14602,BAB55084,BAF82588,AAH21997,AAH47516,Q4G0L6,Q96K58,ABZ92059 Hs.102928,Hs.707346 FLJ13479|FLJ14492 protein-coding 1605627 ZNF669 zinc finger protein 669 16710414,15489334,14702039,12477932 79862 NM_024804,AL627095,AK022668,AK056020,BC015312 NP_079080,CAH70015,CAH70017,CAH70018,BAB14166,AAH15312,Q5VT38,Q96BR6 Hs.163754 FLJ12606 protein-coding 1345229 ZNF67 zinc finger protein 67 1580863 1946370,1505991 7618 M88376 AAA61334,Q15940 GDB:128686 protein-coding 1603930 ZNF670 zinc finger protein 670 16710414,16189514,15592455,15489334,14702039,12477932 93474 NM_033213,AL512637,AL627095,CH471148,CQ783971,AK027325,AK074774,BC005360,BG532425 NP_149990,CAH70012,EAW77170,CAF86950,BAC11200,AAH05360,Q9BS34,ABZ92089 Hs.669893 FLJ12606|MGC12466 protein-coding 1602675 ZNF671 zinc finger protein 671 15489334,14702039,12477932,9373149 79891 NM_024833,AC003006,CH471135,AK027159,AK091421,AK225665,BC025728 NP_079109,EAW72528,EAW72529,BAB15677,AAH25728,Q8TAW3,ABZ92062 Hs.180402 FLJ23506 protein-coding 1602674 ZNF672 zinc finger protein 672 15489334,14702039,12477932 79894 BC068506,NM_024836,AL672291,CH471257,AK025954,AK027476,AK027679,BC007385,BC008872,BC029310,BC035140,BC050348 NP_079112,EAW57538,BAB15294,BAB55290,AAH07385,AAH08872,AAH35140,AAH50348,AAH68506,Q499Z4 Hs.521151 FLJ22301 protein-coding 1601992 ZNF673 zinc finger family member 673 15772651,15489334,14702039,12477932,11944989 55634 NM_017776,AL139811,CH471164,CS185620,AK000351,AK096413,AK097159,AK289703,BC012569,CR602455,CR622119 NP_060246,CAI41301,CAI41302,EAW59261,EAW59262,EAW59263,CAJ42801,BAA91104,BAF82392,AAH12569,Q5JUW0 Hs.632800 FLJ20344|RP4-733D15.4 protein-coding 1602785 ZNF674 zinc finger family member 674 16385466 641339 NM_001039891,AL022165,AL031393,CH471164,AY971607,BX648127 NP_001034980,EAW59266,AAY40800,Q2M3X9,AAI56258,AAI57039 Hs.675818 DKFZp686H0940|MRX92|ZNF673B protein-coding 1604218 ZNF675 zinc finger protein 675 11751921,11851921,16344560,15231748,14702039 171392 NM_138330,AC073544,CH471106,DA777369,AB209601,AK093669,AY044432 NP_612203,EAW84944,EAW84945,AAK95822,Q59F60,Q8TD23,AAI56534,BAD92838,BAC04216 Hs.264345 FLJ36350|TBZF|TIZ protein-coding 1602290 ZNF676 zinc finger protein 676 14702039 163223 NM_001001411,AC073539,AK097798,BX281304 NP_001001411,BAC05174,Q8N7Q3 Hs.55452 protein-coding 1604169 ZNF677 zinc finger protein 677 15489334,12477932 342926 NM_182609,AC092070,CH471135,AK026366,BC029855,BC050038,BX648243 NP_872415,EAW72124,AAH29855,AAH50038,Q05C29,Q86XU0,ABZ92161 Hs.20506 MGC48625 protein-coding 1603154 ZNF678 zinc finger protein 678 16710414,15489334,12477932 339500 NM_178549,AL451054,AL592310,CH471098,BC042500 NP_848644,CAI21826,EAW69812,EAW69813,AAH42500,Q5SXM1 Hs.656372 MGC42493 protein-coding 1347814 ZNF68 zinc finger protein 68 7619 GDB:128702 1604477 ZNF680 zinc finger protein 680 15489334,14702039,12477932 340252 NM_178558,AC016769,CH471204,AK074911,AK122937,AK131240,BC030700,CR617028 NP_848653,EAW77966,EAW77967,EAW77968,EAW77969,EAW77970,EAW77971,BAC11286,BAD18422,AAH30700,Q6ZNF3,Q8NEM1 Hs.520886 FLJ90430 protein-coding 1606957 ZNF681 zinc finger protein 681 14702039,12477932,8889548 148213 NM_138286,AC073544,AC139769,CH471106,AK056088,AK122869,BC062216,BC082233,BU726573,CR624679 NP_612143,EAW84947,EAW84948,EAW84949,BAB71090,Q96N22 Hs.187337,Hs.399952 FLJ31526 protein-coding 1603286 ZNF682 zinc finger protein 682 16344560,15057824,14702039 91120 NM_033196,NM_001077349,AC006539,CH471106,AK027845,AK074843,AK096571,AK098164,AK127015,DA612976,DA788529,DB174863,DR002650 NP_149973,NP_001070817,AAD14470,AAD14471,AAD14472,EAW84868,EAW84869,EAW84870,BAB55408,BAC11238,O95778,O95779,O95780,Q8NCC0 Hs.306298 BC39498_3|FLJ90362 protein-coding 1601926 ZNF683 zinc finger protein 683 16710414,15489334,12477932 257101 NM_173574,NM_001114759,AL451139,CH471059,BC028731,BC029505,BI465178 NP_775845,NP_001108231,CAI15853,CAI15854,CAI15855,CAI15856,CAI15857,CAI15858,CAI15859,CAI15860,EAX07816,EAX07817,EAX07818,AAH28731,AAH29505,Q8IZ20,ABZ92126 Hs.353208 MGC33414|RP11-569G9.6 protein-coding 1601724 ZNF684 zinc finger protein 684 16710414,15489334,14702039,12477932 127396 NM_152373,AL356379,CH471059,AK094072,BC016016,BC091518,BC111463 NP_689586,CAI22132,CAI22133,CAI22134,EAX07208,EAX07209,AAH91518,AAI11464,Q5T5D7,ABZ92097 Hs.524767 MGC27466 protein-coding 1606250 ZNF687 zinc finger protein 687 15302935,14702039,12477932,10718198,17081983,16964243,16710414,15489334 57592 CR749307,NM_020832,AL391069,CH471121,AB037862,AK023105,BC020245,BC032463 AAH32463,CAH18162,Q5VWB8,NP_065883,CAH70322,CAH70323,EAW53451,EAW53452,EAW53453,EAW53454,BAA92679,BAB14406,Q8N1G0 Hs.186756 DKFZp781I1719|KIAA1441|RP11-126K1.3 protein-coding 1602068 ZNF688 zinc finger protein 688 15489334,14702039,12477932,10493829,8889548 146542 NM_145271,NM_001024683,AC002310,CH471192,AF085979,AK122680,BC018997,BM011208,BQ188280 NP_660314,NP_001019854,EAW52233,EAW52234,EAW52235,EAW52236,AAH18997,Q8WV14,ABZ92106 Hs.301463 protein-coding 1603925 ZNF689 zinc finger protein 689 16568080,15489334,14702039,12477932 115509 NM_138447,AC093249,CH471192,CQ756574,CQ783987,AB065282,AF086510,AK074896,AL834299,BC014000 NP_612456,EAW52228,CAF32597,CAF86958,BAB83744,BAC11275,CAH56363,AAH14000,Q25QX8,Q96CS4 Hs.454685 DKFZp762C173|FLJ90415|TIPUH1 protein-coding 1348158 ZNF69 zinc finger protein 69 1580863 12477932,1639391 7620 NM_021915,AC008770,CH471106,X60076,AW132096,BC051309,CA437198 NP_068734,EAW84248,EAW84249,EAW84250,CAC16147,AAH51309,Q9UC07,ABZ92442 Hs.661955 GDB:128841 Cos5|MGC59928 protein-coding 1603045 ZNF691 zinc finger protein 691 16710414,15489334,14702039,12477932,9110174,8619474 51058 NM_015911,AL512353,AF131739,AK000938,BC000157,CR457146 NP_056995,CAH72717,CAH72719,CAH72720,AAD20028,BAA91434,AAH00157,CAG33427,Q5VV50,Q5VV52,ABZ92328 Hs.20879 RP11-342M1.5|Zfp691 protein-coding 1604343 ZNF692 zinc finger protein 692 9373149,8125298,17097062,16710414,15489334,14702039,12477932 55657 NM_017865,AL672291,CH471257,AB209706,AK000538,AK001070,AK225535,AL133100,BC002948,AF256175,CR595121,CR604138,CR605596,CR625725 NP_060335,CAI18799,CAI18800,CAI18801,EAW57539,EAW57540,EAW57541,EAW57542,BAD92943,BAA91239,BAA91490,CAB61410,AAH02948,AAG15327,Q59EV5,Q9BU19 Hs.377705 AREBP|FLJ20531|Zfp692 protein-coding 1603629 ZNF695 zinc finger protein 695 16710414,15489334,12477932 57116 NM_020394,AC113174,AL512637,AK126366,BC023527,BC041082,BC055096,CA441360,CR597038 NP_065127,AAH23527,AAH41082,AAH55096,Q5T0P2,Q8IW36,ABZ92358 Hs.669893 MGC61907|RP11-551G24.1|SBZF3 protein-coding 1605338 ZNF696 zinc finger protein 696 14702039 79943 NM_030895,AC138696,AK024191,BC126317 NP_112157,BAB14850,AAI26318,A0AVE2,Q9H7X3 Hs.657615 FLJ14129 protein-coding 1603938 ZNF697 zinc finger protein 697 12477932 90874 NM_001080470,AL109966,AK027019,BC007260,BC033126,BC063670 NP_001073939,CAI21950,AAH07260,AAH33126,Q5TEC3,Q8N508 Hs.381105 MGC45731 protein-coding 1605799 ZNF699 zinc finger protein 699 16940975,15489334,14702039,12477932 374879 NM_198535,AC011451,AK095463,BC109267,BC109268 NP_940937,BAC04552,AAI09268,AAI09269,Q32M78 Hs.633842 FLJ38144|MGC129880|MGC129881|hang protein-coding 1321655 ZNF7 zinc finger protein 7 1580863 2106481,15489334,14702039,12477932,10520746,9268371,9155018,2288909,1946370 7553 NM_003416,AF235103,CH471162,M77170,AB209619,AF027146,AK096025,BC058923,BQ020963,BX647998,CR625704,DC301751,M29580,U71599,X52335 ABZ92245,NP_003407,EAW82038,EAW82039,EAW82040,EAW82041,EAW82042,AAA36813,BAD92856,AAB84025,BAC04677,AAH58923,AAA61313,AAB16811,CAA36561,O14891,P17097,Q59F42,Q7KZ25,Q8N8Y4,Q92970 Hs.493218 GDB:120509 FLJ38706|HF.16|KOX4|zf30 zinc finger protein 7 (kox 4, clone hf.16) protein-coding 1351626 ZNF70 zinc finger protein 70 1580863 15489334,15461802,14702039,12477932,1639391 7621 NM_021916,AB050771,AP000348,CH471095,X60077,AK122721,BC040161,CR456615 NP_068735,BAB83033,EAW59597,CAC16148,AAH40161,CAG30501,Q9UC06,CAK54649,CAK54948,ABZ92443 Hs.382874 GDB:128842 Cos17|MGC48959 protein-coding 1604763 ZNF700 zinc finger protein 700 12477932,11230166 90592 NM_144566,AC008770,CH471106,AK126871,AL136732,BC111557 NP_653167,EAW84251,CAB66666,Q9H0M5 Hs.528486 DKFZp434I1610 protein-coding 1603988 ZNF701 zinc finger protein 701 15489334,14702039,12477932 55762 NM_018260,AC022150,CH471135,AK001753,BC054884,BC067346,BC080612,BC131719 NP_060730,EAW72085,EAW72086,BAA91884,AAH54884,AAH67346,AAH80612,AAI31720,Q6NWZ7,Q7Z2U6,Q9NV72 Hs.235167 FLJ10891 protein-coding 1605331 ZNF702 zinc finger protein 702 14702039,12477932 79986 NR_003578,AC010328,AK023047,AK092593,AL832505,BC032590 BAB14373,AAH32590,Q05BW1,Q9H963 Hs.270435 FLJ12985 pseudo 1602208 ZNF703 zinc finger protein 703 15897872,15489334,14702039,12477932 80139 NM_025069,AC137579,CH471080,AK024361,BC032534,BC084581 NP_079345,EAW63370,BAB14897,AAH32534,AAH84581,Q9H7S9 Hs.288042 FLJ14299|ZNF503L protein-coding 1605749 ZNF704 zinc finger protein 704 12477932 619279 NM_001033723,AC022598,AC024367,CH471068,AK131274,BC017966,BC136845 NP_001028895,EAW87083,BAD18451,AAI36846,Q6ZNC4 Hs.632067 FLJ16218|Gig1 protein-coding 1605174 ZNF705A zinc finger protein 705A 14702039 440077 NM_001004328,AC092111,CH471116 NP_001004328,EAW88624,Q6ZN79 Hs.438536 FLJ16353 protein-coding 1605166 ZNF705B zinc finger protein 705B 441330 XM_933421,XM_496959 XP_938514,XP_496959 protein-coding 1604442 ZNF705CP zinc finger protein 705C pseudogene 12477932 389631 NG_005518,AC087203,AC144830 MGC131746|ZNF705C pseudo 1602889 ZNF706 zinc finger protein 706 15489334,14702039,12477932,11042152 51123 BG704587,BI755311,DB549532,NM_001042511,NM_016096,NM_001042510,AP001330,AP003469,CH471060,AF125099,AF275802,AF275809,AK027802,AK129859,AK290477,AV721205,BC015925,BC035233,BC068524 Q9HB72,Q9Y5V0,ABZ92329,NP_001035976,NP_057180,NP_001035975,EAW91831,EAW91832,AAD39916,AAG23816,AAG23820,BAF83166,AAH15925,AAH68524 Hs.374485 HSPC038|PNAS-106|PNAS-113 protein-coding 1603343 ZNF707 zinc finger protein 707 16344560,16189514,15489335,15489334,14702039,12477932 286075 NM_001100598,NM_001100599,AC105219,CH471162,AK001126,AK055198,AK055263,AK095138,AK290432,AW294133,BC014894,CV023324,DA007942,DA917297,NM_173831,DB249556 NP_776192,NP_001094068,NP_001094069,EAW82210,EAW82211,EAW82212,EAW82213,EAW82214,BAF83121,AAH14894,Q96C28 Hs.521922 protein-coding 1342692 ZNF708 zinc finger protein 708 1580863 14702039,7486829,2288909,2014798 7562 NM_021269,AC022432,CH471106,AK128184,AK131527,BC039403,BX647526,X52339 NP_067092,EAW84891,EAW84892,BAD18665,CAA36565,P17019 Hs.466296 GDB:125322 DKFZp686L10267|FLJ16755|FLJ46310|KOX8|ZNF15|ZNF15L1|znf15l1 zinc finger protein 15-like 1 (kox 8) protein-coding 1605565 ZNF709 zinc finger protein 709 16344560,14702039,12477932 163051 NM_152601,AC008758,CH471106,AK290911,BC036481,BC038531,BQ027911,BX954970,DA493682 NP_689814,EAW84275,EAW84276,BAF83600,Q8N972 Hs.659748,Hs.676635 FLJ38281 protein-coding 1343724 ZNF71 zinc finger protein 71 1580863 15489334,15342556,15057824,14702039,12477932,11426589,1946370,1639391,1505991 58491 NM_021216,AC007228,CH471135,M88357,X60074,AF269249,AK057019,AL137486,BC014280,BP377051,CR601440 NP_067039,AAD23608,EAW72467,EAW72468,AAA61315,CAC16174,AAF88036,AAH14280,Q9NQZ8 Hs.301431,Hs.600391 GDB:128843 EZFIT protein-coding 1606391 ZNF710 zinc finger protein 710 15489334,14702039,12477932 374655 NM_198526,AC087284,AK094712,AK160373,AL831826,BC020301,BC126476,BC130541 NP_940928,BAC04404,BAD18716,CAD38540,AAI26477,AAI30542,Q8N1W2 Hs.459311 DKFZp547K1113|FLJ00306|FLJ37393|MGC163413 protein-coding 1347410 ZNF711 zinc finger protein 711 This gene encodes a zinc finger protein of unknown function. It bears similarity to a zinc finger protein which acts as a transcriptional activator. This gene lies in a region of the X chromosome which has been associated with mental retardation. 1580863 16344560,15772651,15489334,12477932,9491611,8733041,1923752 7552 NM_021998,AC003001,CH471104,AY726603,BC006349,BC067294,BX648117,DB074057 NP_068838,EAW98563,EAW98564,EAW98565,EAW98566,AAH06349,AAH67294,Q6PK66,Q9Y462 Hs.326801 GDB:120508 CMPX1|ZNF4|ZNF5|ZNF6|Zfp711|dJ75N13.1|znf6 zinc finger protein 6 (cmpx1) protein-coding 1605220 ZNF713 zinc finger protein 713 14702039,12477932 349075 NM_182633,AC092579,AC092647,CH471140,AK097282,BC094796 NP_872439,EAX07964,BAC04991,Q8N859,AAI46400,AAI48833 Hs.660834 FLJ39963 protein-coding 1606958 ZNF714 zinc finger protein 714 16341674,14702039,12477932 148206 NM_182515,AC010620,AC012627,CH471106,AK056006,AK090987,AK125662,BC022527,BC037782,BC050468,BC064985,BM788748 NP_872321,EAW84885,EAW84886,EAW84887,BAB71072,BAC86236,AAH37782,AAH50468,Q6ZUI9,Q96N38 Hs.466291 DKFZp547O168|FLJ33668|FLJ43674 protein-coding 1602613 ZNF716 zinc finger protein 716 441234 XM_001714654,XM_001719202,XM_938124,XM_001714670,AC073057,AC092175,AK131575 XP_001714706,XP_001719254,XP_943217,XP_001714722 Hs.533121 FLJ46189 protein-coding 1606870 ZNF717 zinc finger protein 717 14702039,12477932 377064 XM_931320,XM_926480,XM_942740,XM_936239,AC108724,AC133123,AF226994,AK123776,BC084565 XP_936413,XP_931573,XP_947833,XP_941332,AAK28319,AAH84565,Q5XG89,Q9BY31 Hs.556877,Hs.713377 FLJ41782|X17 protein-coding 1605256 ZNF718 zinc finger protein 718 15489334,14702039,12477932 255403 NM_001039127,AC118278,CH471131,AK074517,AK096662,AL833758,BC020836,BC047874,BC052600,BC104026,BC104027,BC104028,BC104029,BC154406 NP_001034216,EAW82674,BAC11034,CAH56238,AAH52600,AAI04027,AAI04028,AAI04029,AAI04030,AAI54407,Q3SXZ3,Q658L4,Q7Z7K8,Q8N2R1 Hs.428579,Hs.636638 FLJ90036 protein-coding 1346249 ZNF72 zinc finger protein 72 1580863 1639391 7623 X60078 CAC16145,Q9UC05 GDB:128844 Cos8 protein-coding 1602425 ZNF721 zinc finger protein 721 16344560,14702039,11853319 170960 AC092574,NM_133474,AB075862,AK092362,AK095558,AK095689,AK127067,AK128499,AL834155,DA309597 NP_597731,BAB85568,CAH10687,Q8TF20 Hs.428360 KIAA1982 protein-coding 1601665 ZNF723 zinc finger protein 723 15869325 724097 DQ048837 protein-coding 1601785 ZNF724P zinc finger protein 724 pseudogene 440519 NG_005791,AC092329 pseudo 1603876 ZNF725 zinc finger protein 725 253342 AC011493,AC074140 A8MSQ6 protein-coding 1601664 ZNF726 zinc finger protein 726 15869325 724099 DQ036016 protein-coding 1603326 ZNF728 zinc finger protein 728 14702039 724100 AK056585 Hs.456399 protein-coding 1350696 ZNF73 zinc finger protein 73 1580863 9337403,1639391 7624 X60075,Y10929 CAC16146,CAA71860,O43830 GDB:128845 Cos12|ZNF186|hZNF2 protein-coding 1626257 ZNF735 zinc finger protein 735 728898 XM_001128747,AC115220 XP_001128747 protein-coding 1625854 ZNF737 zinc finger protein 737 12477932 163233 XM_290865,XM_938234,AC008554,AC010636,AF044026,BC015765,BG754870 XP_290865,XP_943327,AAC25694,O75373,Q05DB6,Q6ZT77 Hs.515696 ZNF102 protein-coding 1353341 ZNF74 zinc finger protein 74 1580863 12477932,11705709,11313019,10591208,10585771,9346935,8663113,8268910,1639391,16344560,15461802,12684500 7625 NM_003426,NR_003253,AC007731,AF072567,CH471176,X63182,AB209663,AK291358,BC013395,BC013741,BC048295,BC056902,CR456616,CR594912,CR601515,DA576206,X71623,X92715 NP_003417,AAF21777,AAF21778,AAF21779,AAF21780,EAX02967,EAX02968,EAX02970,CAC16149,BAD92900,BAF84047,AAH13395,AAH48295,CAG30502,CAA50632,CAA63379,Q05BG0,Q16587,Q59EZ8,Q6PJP1,EAX02969,CAK54640,CAK54939 Hs.517418 GDB:128846 Cos52|ZNF520|Zfp520 protein-coding 1603524 ZNF740 zinc finger protein 740 16964243,15489334,14702039,12477932 283337 NM_001004304,AC021072,AC068889,AC073573,AC073611,AJ316575,CH471054,AF086252,AK091946,AK292744,BC053557,CR592931 NP_001004304,CAC86954,EAW96673,EAW96674,BAF85433,AAH53557,Q8NDX6 Hs.524458 MGC61706|Zfp740 protein-coding 1626267 ZNF742 zinc finger protein 742 730008 XM_001132067 XP_001132067 Hs.675378 protein-coding 1606138 ZNF746 zinc finger protein 746 15489334,14702039,12477932 155061 NM_152557,AC004932,AC073314,CH471146,AK055975,AK128244,AK291814,BC031968,BC035586,BC068505,CR592744 NP_689770,EAW80042,EAW80043,BAB71061,BAC87351,BAF84503,AAH68505,Q6NUN9,Q6ZRF9,Q96N48 Hs.24643 FLJ31413 protein-coding 1602103 ZNF747 zinc finger protein 747 14702039,12477932,10493829 65988 NM_023931,AC002310,CH471192,AB209546,AK054567,AK292192,BC001361 NP_076420,EAW52239,EAW52240,BAD92783,BAB70760,BAF84881,AAH01361,Q9BV97 Hs.592032 MGC2474 protein-coding 1603829 ZNF749 zinc finger protein 749 17567985,16344560,15057824,14702039 388567 NM_001023561,AC004076,AK122740,AK122794,BP872084,DB099619 NP_001018855,AAB97932,O43361 Hs.579576 FLJ16263|FLJ16360 protein-coding 1345365 ZNF75 zinc finger protein 75 (D8C6) 1580863 8288223,14702039,12477932,1505955 7626 X68010,AK091687,AK092347,AK290215,AL831984,AL832801,BC029787,BC109100,CR624208,S67970,NM_007131,AL450472,AL590282,CH471107,S43109 CAA48147,BAF82904,CAD89900,CAI46130,AAI09101,AAB29696,P51815,Q5JPG0,Q86TD5,ABZ92251,NP_009062,EAX11730,EAX11731,AAB22971 Hs.533540,Hs.667773 GDB:131726 D8C6|MGC126327|ZNF75D|ZNF82 protein-coding 1602862 ZNF750 zinc finger protein 750 This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. 16751772,16344560,15489334,14702039,12477932 79755 NM_024702,AC068584,CH471099,AI539029,AK023903,BC109036,BC109037,CO245511,DA433713,DA872185 NP_078978,EAW89824,BAB14718,AAI09037,AAI09038,Q32MQ0 Hs.464391,Hs.653124 FLJ13841|MGC125667|MGC125668|Zfp750 protein-coding 1346975 ZNF75A zinc finger protein 75a 1580863 16344560,15489334,14702039,12477932,8661144 7627 NM_153028,AC004232,AC025283,CH471112,X91826,AK056091,AK093979,BC119652,BC119653,CR749782,DB249528 NP_694573,EAW85374,EAW85375,EAW85376,EAW85377,CAA62935,BAB71092,AAI19653,AAI19654,CAH18648,Q68CU0,Q96N20 Hs.513292 GDB:6282298 FLJ31529 protein-coding 1350509 ZNF75B zinc finger protein 75B 8661144 7628 NG_001214,AC024934,AC076972,X91827 GDB:5939724 pseudo 1348414 ZNF75C zinc finger protein 75c 1580863 8661144 7777 X91828 CAA62937,Q92670 GDB:6282299 protein-coding 1314742 ZNF76 zinc finger protein 76 (expressed in testis) 1580863 9705341,16522640,16337145,15489334,15280358,15231748,12477932,1427894 7629 NM_003427,CH471081,Z97832,AB208784,BC000133,BC002549,BT007316,CR614742,M91592 NP_003418,EAX03814,EAX03815,EAX03816,EAX03817,EAX03818,EAX03819,EAX03820,CAI20189,BAD92021,AAH00133,AAH02549,AAP35980,AAA98739,P36508,Q59HH4,Q5R3B9 Hs.388024 GDB:132027 D6S229E|ZNF523|Zfp523 protein-coding 1603831 ZNF761 zinc finger protein 761 14702039 388561 NM_001008401,AC022137,AB107355,AK092652,AK131281 NP_001008401,BAC67660,BAC03937,BAD18456,Q86XN6,Q8NAH8 Hs.708302 FLJ16231|FLJ35333|KIAA2033|ZNF468 protein-coding 1604484 ZNF763 zinc finger protein 763 14702039,12477932,1946370,1505991 284390 NM_001012753,AC008770,CH471106,M88364,AK092240,BC105711,BC105712,BC105713 NP_001012771,EAW84252,AAA61322,AAI05712,AAI05713,AAI05714,Q0D2J5,Q15926 Hs.646386 ZNF|ZNF440L protein-coding 1606477 ZNF764 zinc finger protein 764 15489334,14702039,12477932,16189514 92595 NM_033410,AC002310,CH471192,AK093992,BC000016,BC008821 NP_219363,EAW52237,EAW52238,AAH00016,AAH08821,Q96H86,ABZ92086 Hs.132227 MGC13138 protein-coding 1602446 ZNF765 zinc finger protein 765 12477932 91661 NM_001040185,AC022137,CH471135,BC001610,BC017357,BX647981,CD656338 NP_001035275,EAW72134,EAW72135,AAH01610,AAH17357,Q7L2R6,Q9BV49,ABZ92083 Hs.708302 DKFZp686J2252 protein-coding 1605317 ZNF766 zinc finger protein 766 14702039,12477932 90321 NM_001010851,AC010320,CH471135,AK022545,AK024074,AK024268,AK097729,BC109201,BX538183,BX648899 NP_001010851,EAW72067,EAW72068,EAW72069,AAI09202,CAD98055,CAI45991,Q08EK0,Q5HY98 Hs.439662 protein-coding 1605335 ZNF767 zinc finger family member 767 15489334,14702039,12975309,12853948,12477932,9847074 79970 NM_024910,AACC02000041,AC004932,CH471146,AK022762,AK124860,AY359125,BC047675 NP_079186,EAL24433,AAQ96876,EAW80038,EAW80039,EAW80040,BAB14233,AAQ89482,AAH47675,Q6UVX0,Q75MW2 Hs.708012 FLJ12700|FLJ42870|MGC51818 protein-coding 1605951 ZNF768 zinc finger protein 768 15302935,12477932,12107411 79724 NM_024671,AC002310,CH471192,AK027089,BC013760,BC092403,BQ635980,CA423836,CR615704 NP_078947,EAW52241,EAW52242,BAB15652,AAH13760,AAH92403,Q9H5H4 Hs.85658 FLJ23436 protein-coding 1346753 ZNF77 zinc finger protein 77 1580863 16344560,15489334,12477932,8478004 58492 NM_021217,AC006277,AC011559,CH471139,AK290979,AL365370,AW450750,BC043354,BC062561,DB104618,X65230 NP_067040,EAW69354,BAF83668,CAB96946,AAH43354,AAH62561,CAA46337,Q15935 Hs.38004 GDB:132129 pT1 protein-coding 1606270 ZNF770 zinc finger protein 770 15489334,14702039,12477932 54989 NM_014106,AC114546,CH471125,AI421027,AI890305,AK000589,AK127201,AK131433,AK291438,BC005188,BC035308,BC071603,BM454360,BQ921117,CD704851,CR612792 Q6IQ21,Q9UHS9,NP_054825,EAW92323,EAW92324,BAA91274,BAD18579,BAF84127,AAH71603 Hs.5327 FLJ20582|PRO1914 protein-coding 1605390 ZNF771 zinc finger protein 771 15489334,12477932 51333 NM_016643,XM_001721234,XM_001721231,AC116348,AF242768,BC011870,BC026192 NP_057727,XP_001721286,XP_001721283,AAF65445,AAH11870,AAH26192,Q7L3S4 Hs.148584 DSC43 protein-coding 1606077 ZNF772 zinc finger protein 772 400720 NM_001024596,AC003005,AC004076,BC150292,BX647068,CR749225 NP_001019767,CAH18081,Q68DY9 Hs.388810 DKFZp686I1569 protein-coding 1605527 ZNF773 zinc finger protein 773 14702039,12477932 374928 BC005167,CR606221,NM_198542,AC003005,CH471135,AK057209,AK160372 AAH05167,Q6PK81,Q6ZML0,ABZ92474,NP_940944,EAW72507,EAW72508,BAB71382,BAD18715 Hs.579576 FLJ00301|MGC4728|ZNF419B protein-coding 1606399 ZNF774 zinc finger protein 774 16344560,15489334,12477932 342132 NM_001004309,AC018946,AK289385,BC067279,CR749343,DA017564 NP_001004309,BAF82074,AAH67279,CAH18196,Q68DM4,Q6NX45 Hs.55307 MGC75360 protein-coding 1603510 ZNF775 zinc finger protein 775 17081983,15489334,12477932 285971 NM_173680,AC005586,AC073111,CH471173,AW402889,BC015152,BC038111,DB472309 NP_775951,EAW54116,AAH15152,Q96BV0 Hs.709639 MGC33584 protein-coding 1602053 ZNF776 zinc finger protein 776 14702039 284309 NM_173632,AC003006,CH471135,AK095607,AK127764,BX957217,CR749390,CR936802 NP_775903,EAW72530,EAW72531,EAW72532,BAC04588,BAC87119,CAH18239,Q68DI1,Q8IVY6 Hs.109540 DKFZp686K10134|DKFZp781G1213|FLJ38288 protein-coding 1604021 ZNF777 zinc finger protein 777 12477932,10574462 27153 NM_015694,AACC02000041,AC073314,CH471146,CQ783020,AB033111,AK074515,AK075032,BC023985,BC105968,BX444270,DR763452 NP_056509,EAL24432,EAW80044,CAF86227,BAA86599,BAC11033,BAC11364,AAH23985,AAI05969,Q3KR11,Q8N2J5,Q9ULD5 Hs.38512 KIAA1285 protein-coding 1604215 ZNF778 zinc finger protein 778 16344560,15489334,14702039,12477932 197320 NM_182531,AC009113,AK056437,BC015872,BC125192,DA297948 NP_872337,BAB71183,AAH15872,AAI25193,Q96MU6 Hs.647385 FLJ31875|MGC150573 protein-coding 1604491 ZNF780A zinc finger protein 780A 15057824,14702039,12477932 284323 NM_001010880,AC005614,CH471126,AK091274,AK131328,BC021982 NP_001010880,AAC34327,EAW56936,BAD18488,AAH21982,O75290,Q05CQ7,Q6ZN87,AAI56541 Hs.661726 ZNF780 protein-coding 1602429 ZNF780B zinc finger protein 780B 15057824,14702039 163131 NM_001005851,AC007842,CH471126,AK122872,AK127063 NP_001005851,AAD39268,EAW56932,EAW56933,EAW56934,EAW56935,Q9Y6R6 Hs.599728 ZNF779 protein-coding 1605270 ZNF781 zinc finger protein 781 12477932 163115 NM_152605,AC093227,CH471126,AA778692,AK094868,AK097019,BC035681,BC108687 NP_689818,EAW56746,EAW56747,BAC04442,BAC04927,AAI08688,Q8N1U5,Q8N8C0 Hs.631565 FLJ37549|MGC131783 protein-coding 1603891 ZNF782 zinc finger protein 782 14702039 158431 NM_001001662,AL158827,CH471174,AK131468,BC137073,CR619806 NP_001001662,EAW92667,EAW92668,BAD18613,AAI37074,Q6ZMW2 Hs.592420 FLJ16636 protein-coding 1606139 ZNF783 zinc finger family member 783 14702039,12477932,9110174,8619474 155060 NM_001004302,AC004890,CH471146,AK022976,AK098351,AL359620,BX361979 NP_001004302,EAW80046,EAW80047,EAW80048,EAW80049,EAW80050,EAW80051,Q6ZMS7 Hs.490512,Hs.709302 DKFZp667J212|DKFZp762P2111|FLJ12914|FLJ16713|FLJ36716 protein-coding 1602066 ZNF784 zinc finger protein 784 15489334,14702039,12477932 147808 NM_203374,AC008735,CH471135,CQ782822,AF086055,AK074859,BC065822,CR604701,CR618267 NP_976308,EAW72395,EAW72396,EAW72397,CAF86050,BAC11251,AAH65822,Q8NCA9 Hs.53996 MGC75238 protein-coding 1602069 ZNF785 zinc finger protein 785 14702039,12477932,10493829 146540 NM_152458,AC002310,CH471192,AK056692,AK292465,BC040642 NP_689671,AAC31673,EAW52229,EAW52230,EAW52231,EAW52232,BAB71256,BAF85154,AAH40642,ABZ92105 Hs.513509 FLJ32130 protein-coding 1604748 ZNF786 zinc finger protein 786 16381901,16344560,15489336,12477932,11256614,11230166,11076863 136051 NM_152411,AACC02000041,AC073422,CH471146,AK095701,AL834510,BC109245,BC128392,BX647929,DB316299,DB453090 NP_689624,EAL24426,EAW80062,EAW80063,EAW80064,CAD39166,AAI09246,AAI28393,CAI46083,Q0JUL2,Q2VP97,Q5HYD6,Q8N393,CAL37751,CAL37799 Hs.632029 DKFZp762I137|MGC156120 protein-coding 1603274 ZNF787 zinc finger protein 787 12477932 126208 NM_001002836,AC024580,CH471135,AF000560,BC012495,BC037737,BC058034,BC077728 AAH77728,Q6DD87,NP_001002836,EAW72423,AAB58413 Hs.397153 TIP20 protein-coding 1603509 ZNF789 zinc finger protein 789 16341674,14702039,12690205,12477932 285989 NM_213603,NM_001013258,AC073063,CH236956,CH471091,AK093141,AK131429,BC031249,BC050286,BC089424,BI767175,BM840763,BX648360 NP_998768,NP_001013276,EAL23875,EAL23876,EAW76660,BAD18576,AAH89424,Q5FWF6 Hs.440384 protein-coding 1344887 ZNF78L1 zinc finger protein 78-like 1 (pT3) 8478004 7631 Q15936 GDB:132130 1346008 ZNF78L2 zinc finger protein 78-like 2 (pT3) 8478004 7632 GDB:132131 1350135 ZNF79 zinc finger protein 79 1580863 15489334,15342556,15164053,14702039,12477932,10567577,9380504,8478004,8262519 7633 NM_007135,AL445222,CH471090,AI301044,AK054606,BC062309,BP351823,DC378814,X65232 NP_009066,CAH72928,EAW87665,BAB70771,AAH62309,CAA46339,Q15937,ABZ92252 Hs.522399 GDB:132132 pT7 protein-coding 1603835 ZNF790 zinc finger protein 790 16344560,15489334,12477932 388536 NM_206894,AC020928,AI808437,BC057245,BM473790,DA819130 NP_996777,AAH57245,Q6PG37 Hs.282067 FLJ20350|MGC62100 protein-coding 1605566 ZNF791 zinc finger protein 791 12477932 163049 BC106937,BC106938,NM_153358,AC010422,CH471106,CQ783985,AK074877 AAI06938,AAI06939,Q3KP31,ABZ92117,NP_699189,EAW84278,CAF86957,BAC11261 Hs.522545 FLJ90396|MGC126179|MGC126180 protein-coding 1606468 ZNF792 zinc finger protein 792 16344560,12477932,8889548 126375 NM_175872,AC008555,AK095770,AK130901,AL517807,BC101118,BC101119,BC101120,BC106043,BU428746,BU686719,CB108971,CR594544,DB257726,W18184 NP_787068,BAC04624,AAI01119,AAI01120,AAI01121,AAI06044,Q3KQV3 Hs.50405 FLJ38451|MGC117233|MGC119731 protein-coding 1602030 ZNF793 zinc finger protein 793 16344560,8889548 390927 NM_001013659,AC022148,CH471126,AK131417,BC150303,BE219465,BU683546,BX537524,CR616392,DB180171 NP_001013681,EAW56733,EAW56734,BAD18564,CAD97772,Q6ZN11 Hs.568010 protein-coding 1604764 ZNF799 zinc finger protein 799 16344560,15489334,14702039,12477932 90576 NM_001080821,AC008758,CH471106,AK027660,AL832890,BC009517,CB988846,DB198205 NP_001074290,EAW84271,AAH09517,Q96GE5 Hs.546637 HIT-40 protein-coding 1321682 ZNF8 zinc finger protein 8 1580863 2106481,16964243,15489334,14702039,12477932,12370310,9373149,8125298 7554 NM_021089,AC020915,CH471135,AK093110,AK225825,BC039323,M29581 NP_066575,EAW72570,AAH39323,AAA61314,P17098,ABZ92246 Hs.590941 GDB:120510 HF.18|Zfp128 protein-coding 1350909 ZNF80 zinc finger protein 80 1580863 12477932,8478004,7659503 7634 P51504,Q6NSW4 NM_007136,AC093010,CH471052,BC069606,BC069826,BC129925,X65233 NP_009067,EAW79603,AAH69606,AAH69826,AAI29926,CAA46340,P51504,Q6NSW4 Hs.271079 GDB:132133 pT17 protein-coding 1603887 ZNF800 zinc finger protein 800 17567994,14702039,12477932 168850 NM_176814,AC000127,CH236947,CH471070,AF218032,AK125291,BC037348,BC047641,BC110623,BC110624,DQ655936 NP_789784,EAW83625,EAW83626,EAW83627,AAG17274,AAH37348,AAH47641,AAI10624,AAI10625,Q2TB10,Q49A13,Q4G0T8 Hs.159006 FLJ43301|MGC130032|MGC130033 protein-coding 1349576 ZNF804A zinc finger protein 804A 16713569,14702039,12970790,12477932,9110174,8619474 91752 NM_194250,AC010747,AC096667,AC112720,CH471058,AF052145,AK055275,AK127762,AK131402,AY327407,BC142612,BC150198 NP_919226,EAX10945,EAX10946,BAD18549,AAP92799,AAI42613,AAI50199,Q7Z570 Hs.159528 C2orf10 protein-coding 1601814 ZNF804B zinc finger protein 804B 14702039,9847074 219578 NM_181646,AC002068,AC002127,AC002382,AC004015,AC004746,AC006350,AC074253,AC079744,CH236949,CH471091,AK056672,AY295769,BC140826,BC140829 NP_857597,EAL24168,EAW76900,BAB71248,AAP49447,AAI40827,AAI40830,A4D1E1 Hs.684410 FLJ32110 protein-coding 1604434 ZNF805 zinc finger protein 805 390980 XM_001718504,XM_001718548,XM_001719150,AC005261,AF024708,CR936617 XP_001718556,XP_001718600,XP_001719202,AAB81098,CAI56760,O14860,Q5CZA5 Hs.22488 DKFZp686P08106 protein-coding 1626191 ZNF806 zinc finger protein 806 14702039 646915 XM_001724242,XM_497879,XM_001715118,AC097532,AK094599 XP_001724294,XP_497879,XP_001715170 Hs.433138 protein-coding 2292083 ZNF807 zinc finger protein 807 643719 XM_001718831,XM_001718828,XM_001716186,XM_944377,AC022143,CS300803,CA429783,CD173361 XP_001718883,XP_001718880,XP_001716238,XP_949470,CAK32467 Hs.686754 protein-coding 1603832 ZNF808 zinc finger protein 808 16344560,12477932 388558 NM_001039886,AC022150,CH471135,BC017109,BC033230,BC130351,BC130353,CR749856,DA094254,DW462787 NP_001034975,EAW72084,AAH17109,AAH33230,AAI30352,AAI30354,CAH18701,Q68CN7,Q7Z749,Q8N4W9 Hs.235167 protein-coding 1349324 ZNF81 zinc finger protein 81 1580863 15121780,14702039,12477932,8507979,10398246 347344 NM_007137,AL022578,AL591394,CH471164,X68011,Z98304,AK126339,AK126949,AY487248,BC039609,BC111389 NP_009068,CAI39461,CAI39462,EAW59332,EAW59333,CAA48148,CAI42943,BAC86759,AAS17752,P51508,Q6ZT36,AAI48629 Hs.114246 GDB:132173 FLJ44367|HFZ20|MRX45 zinc finger protein 81 (hfz20) protein-coding 1625646 ZNF812 zinc finger protein 812 729648 XM_001726949,XM_001719513,XM_001726943,AC008759 XP_001727001,XP_001719565,XP_001726995 protein-coding 1603586 ZNF813 zinc finger protein 813 16344560,14702039 126017 NM_001004301,AC022137,CH471135,AK091460,AK131422,DB066632,DB235327,DR006226 NP_001004301,EAW72143,BAD18569,Q6ZN06 Hs.708302 FLJ16542|FLJ34141 protein-coding 1606076 ZNF814 zinc finger protein 814 400721 XR_018616 Hs.708037 pseudo 1604428 ZNF815 zinc finger protein 815 14702039 401303 XM_928774,XM_935668,XM_001716200,XM_001714535,AC004983,AC008167,AK096288,AK291169 XP_933867,XP_940761,XP_001716252,XP_001714587,BAF83858 Hs.372707 FLJ38969 protein-coding 1604241 ZNF816A zinc finger protein 816A 12477932 125893 NM_001031665,AC010328,AC010487,CH471135,AA884369,AK291990,AL713804,BC063805,BC105739,BC105740,BC105930 NP_001026835,EAW72106,EAW72107,BAF84679,CAH56373,AAI05740,AAI05741,AAI05931,Q0VGE8 Hs.655592 MGC125619 protein-coding 1625098 ZNF816B zinc finger protein 816B 729840 XM_001131483,XM_001127292,AC022150 XP_001131483,XP_001127292 Hs.467210 protein-coding 1604435 ZNF818 zinc finger protein 818 390963 Q6ZRF7 NM_001001675,AC092070,AK128250 NP_001001675,BAC87353,Q6ZRF7 Hs.444446 FLJ46385 protein-coding 1604613 ZNF821 zinc finger protein 821 16189514,12477932,9110174,8619474 55565 BC012116,BC091492,CR601716,NM_017530,AC009127,AC010653,CH471166,AF070588,BC004563 AAH12116,O75541,NP_060000,EAW59210,EAW59211,EAW59212,EAW59213,EAW59214,EAW59215,EAW59216,EAW59217,EAW59218,EAW59219,AAC28648 Hs.643531 protein-coding 2289737 ZNF826 zinc finger protein 826 12477932 664701 NM_001039884,AC008554,AK126842,BC016785,BC017970,BC022411,BC036006 NP_001034973,BAC86717,AAH16785,AAH17970,AAH22411,Q8TBL2,Q8WVI3 Hs.631635 FLJ44894 protein-coding 1606144 ZNF827 zinc finger protein 827 16751668,16344560,14702039,12477932,9373149,8125298 152485 NM_178835,AC104791,AC107212,CH471056,DQ384490,AB074279,AF450485,AI694534,AK056492,AK091130,AK094136,AK225805,BC033655,BC117407,DA760145 NP_849157,EAX05033,EAX05034,EAX05035,ABD48897,AAP97679,BAC03591,AAI17408,Q0H0I3,Q17R98 Hs.133916,Hs.633543 protein-coding 1322656 ZNF828 zinc finger protein 828 17081983,16964243,15489334,15302935,15057823,14702039,12477932,11347906 283489 NM_032436,AL160396,AL845154,CH471085,AB058705,AK074894,AK096346,BC004820,BC019576,BC065237 NP_115812,CAI23600,EAX09253,EAX09254,BAB47431,BAC11273,AAH04820,AAH65237,Q96JM3,ABZ92044 Hs.7542 C13orf8|FLJ90413|KIAA1802 chromosome 13 open reading frame 8 protein-coding 2292093 ZNF829 zinc finger protein 829 16344560,12477932 374899 NM_001037232,AC008733,AK130969,BC107131,BC107132,BX538288,CR936826,DA033883 BAC85471,AAI07132,AAI07133,CAD98083,Q3KNS6,NP_001032309 Hs.124047 DKFZp686K21248|DKFZp779O175|FLJ27459|MGC129866|MGC129867 protein-coding 1342538 ZNF83 zinc finger protein 83 1580863 16344560,15231748,14702039,12477932,9373149,8125298,8088807,7865130,2505992 55769 NM_018300,NM_001105554,NM_001105552,NM_001105551,NM_001105550,NM_001105549,NM_001105553,AC022150,CH471135,AA883993,AB209516,AK001877,NR_003936,AK027518,AK027782,AK054659,AK055318,AK075066,AK225945,AK289399,AY500361,BC013321,BC017737,BC032867,BC050407,BC063032,BG260506,BG741860,BX641726,BX647540,DA107683,DA151844,DA183557,DA449506,DA497861,DB107467,DB252431,DR761375,M27877 NP_060770,NP_001099024,NP_001099022,NP_001099021,NP_001099020,NP_001099019,NP_001099023,EAW72088,EAW72089,EAW72090,EAW72091,BAD92753,BAA91956,BAB55171,BAB55364,BAF82088,AAS55111,AAH32867,AAH50407,AAH63032,AAG41760,P51522,Q3ZCX0,Q59FE4,Q6P579,Q6PI08,Q6RFR7,Q96K00,Q96SV5,Q9NV05 Hs.467210,Hs.659798,Hs.665751,Hs.710125 GDB:132277 FLJ11015|FLJ14876|FLJ30097|FLJ90585|HPF1|MGC33853|ZNF816B protein-coding 1605313 ZNF830 zinc finger protein 830 17081983,16344560,15489334,14702039,12477932,8889548 91603 NM_052857,AC022903,CH471147,AI866097,AK055707,BC002913,BC009044,BC011584,BG766126,BM720333,BM969401,CR606415,CR617791,CR620924,DB030670 NP_443089,EAW80200,BAB70992,AAH02913,AAH09044,AAH11584,Q96NB3,ABM83252,ABM86454 Hs.413678 CCDC16|MGC20398|OMCG1|SEL13 protein-coding 1316121 ZNF831 zinc finger protein 831 12477932,11780052 128611 NM_178457,AL121919,AL713683,AL833682,BC033155 NP_848552,CAI21544,CAD28487,CAI46154,Q5JPB2 Hs.473204 GDB:11505190 C20orf174|dJ492J12.1 chromosome 20 open reading frame 174 protein-coding 1351858 ZNF84 zinc finger protein 84 1580863 2505992,16344560,15489334,12477932,11856868,1945843 7637 NM_003428,NM_001127372,AC073911,CH471218,AA679683,AK314232,BC036656,BC048350,BC062552,BQ775424,BQ787271,DA663778,DA739478,DB074516,DB096505,DN601581,M27878,X60156 NP_003419,NP_001120844,EAW54799,EAW54800,EAW54801,EAW54802,BAG36902,AAH36656,AAH48350,AAH62552,AAA79359,CAB94232,P51523 Hs.654730 GDB:132278 HPF2 protein-coding 1343266 ZNF85 zinc finger protein 85 1580863 9839802,12477932,9406578,8467795,2505992,2023909 7639 NM_003429,AC008739,CH471106,BC008688,BC036394,BC047646,BC068066,CR604668,D70831,M61866,M61868,U35376 NP_003420,EAW84882,EAW84883,AAH08688,AAH47646,AAH68066,BAA24050,AAA52689,AAA58671,AAA79179,O43693,Q03923,Q49A12,Q6NVI0,Q96HE0 Hs.37138 GDB:132279 HPF4|HTF1|MGC78566 protein-coding 1352668 ZNF86 zinc finger protein 86 (HPF5) 7640 GDB:132280 1348551 ZNF87 zinc finger protein 87 (HPF6) 7641 GDB:132281 1345964 ZNF88 zinc finger protein 88 (HPF8) 7642 GDB:132282 1350332 ZNF90 zinc finger protein 90 1580863 2023909,8467795 7643 XM_929675,XM_938174,AC006539,AC011447,M61870 XP_934768,XP_943267,AAA36028,Q03938 Hs.662176 GDB:132283 HPF9|HTF9 protein-coding 1347563 ZNF91 zinc finger protein 91 1580863 2023909,8467795,16730941,16344560,11470777,2505992 7644 NM_003430,AC010300,AC016628,AC022409,AC093058,CH471106,AI590336,AK291256,DB219374,L11672,M61871 NP_003421,EAW84940,BAF83945,AAA59469,AAA58672,Q05481 Hs.654471 GDB:132284 HPF7|HTF10 protein-coding 1347840 ZNF92 zinc finger protein 92 1580863 8467795,2023909,15489334,14702039,12477932 168374 NM_152626,NM_007139,AC092685,CH471262,AK091618,AK093566,BC036439,BC040594,BX647875,M61872 NP_689839,NP_009070,EAW52301,BAC03708,BAC04197,AAH36439,AAH40594,AAA58673,Q03936,Q8N229 Hs.9521 GDB:132286 HPF12|TF12 zinc finger protein 92 (htf12) protein-coding 1345315 ZNF93 zinc finger protein 93 1580863 2023909,15057824,14702039,12477932,8467795 81931 NM_001004126,AC007204,AC011477,CH471106,M61873,AK022550,AK096342,BC020837,BC038096,BC039001,BC058821,BC070372,BC107581,BG257405,BG289439,BM842045,BU165449,NM_031218 NP_112495,NP_001004126,AAD22981,AAA83548,BAB14093,BAC04764,AAH70372,AAI07582,P35789,Q6NS90,EAW84865,EAW84866,EAW84867 Hs.301059,Hs.659321 GDB:132288 HPF34|HTF34|TF34|ZNF505 zinc finger protein 93 (htf34) protein-coding 1353363 ZNF94 zinc finger protein 94 (F11465) 7647 GDB:132289 1350420 ZNF95 zinc finger protein 95 (F13463) 7648 GDB:132290 1343613 ZNF97 zinc finger protein 97 (F6644) 7650 GDB:132292 1352835 ZNF98 zinc finger protein 98 (F7175) 16344560,15489334,15057824,12477932,11181995,8467795 148198 NM_001098626,AC011494,AC011516,CH471106,BC110576,BC129810 NP_001092096,EAW84926,AAI10577,AAI29811,A6NK75 Hs.667355 GDB:132293 MGC129634 protein-coding 1348977 ZNF99 zinc finger protein 99 12477932,8467795 7652 NM_001080409,AC008626,AC024563,BC021822 NP_001073878,AAH21822,Q8WTZ3 Hs.568380,Hs.653115 GDB:132294 C19orf9|F8281|MGC24986 protein-coding 1603622 ZNFX1 zinc finger, NFX1-type containing 1 16344560,15838384,14702039,12477932,12421765,11780052,10718198 57169 NM_021035,AL049766,CH471077,AB037825,AK000573,AK002139,AK022641,AK023836,AK096594,AU140771,BC014041,BC030789,BC041630,BC062347,BC110888,DA809204 NP_066363,CAC33877,CAI22428,CAI22429,CAI22430,EAW75661,EAW75662,EAW75663,EAW75664,BAA92642,BAA91264,BAA92102,BAB14149,BAB14696,AAH14041,AAH62347,AAI10889,Q2TAK0,Q5JXR5,Q5JXR6,Q5JXR7,Q6P6B6,Q6PJM4,Q9P2E3,AAI56358 Hs.371794 FLJ39275|MGC131926 protein-coding 1318185 ZNHIT1 zinc finger, HIT type 1 1580863 14667819,17700068,17380123,15489334,14702039,12853948,12477932 10467 NM_006349,AC004876,CH471197,AF093571,AK092478,AK125123,BC001877,BC010454,BC017333,CR456992,CR597071,U61837 NP_006340,AAD45833,EAW50206,EAW50207,EAW50208,EAW50209,AAF03558,BAC86056,AAH17333,CAG33273,AAB88578,O43257,Q6IB12,Q6ZV10,ABM83201,ABM86402 Hs.211079 CG1I|ZNFN4A1 zinc finger, hit domain containing 1 protein-coding 1348570 ZNHIT2 zinc finger, HIT type 2 1580863 17656577,15489334,12477932,10873569,10602999,9373149,8125298 741 NM_014205,AP003068,CH471076,AF119497,AK027081,AK223333,AK223358,BC029825,BC038089,BC052240,BC057799,BC104002,BC104003 NP_055020,EAW74352,AAF23591,BAD97053,BAD97078,AAH29825,AAH38089,AAH52240,Q53FD1,Q53FF6,Q9UHR6 Hs.121025 C11orf5|FON|MGC120285|MGC120286 protein-coding 1315114 ZNHIT3 zinc finger, HIT type 3 1580863 7776974,17081983,15489334,12477932,11916906 9326 NM_004773,AC126327,CH471199,AB209193,AF400652,AK290858,AV763423,BC017931,BC105608,BI767446,CB996852,L40410 NP_004764,EAW57552,EAW57553,EAW57554,EAW57555,BAD92430,AAM82423,BAF83547,AAH17931,AAC41737,Q15649,Q59GB6 Hs.2210 GDB:9956002 TRIP3 protein-coding 1347975 ZNHIT4 zinc finger, HIT type 4 1580863 15556297,15489334,15146197,12477932,9847074 83444 NM_031288,AC005041,CH471053,AB054538,AI978697,BC039617,BC050666,BC064425,CN260703,CR600070,CR625948 NP_112578,EAW99668,BAB21111,AAH50666,AAH64425,Q9C086 Hs.410786 HMGA1L4|HMGIYL4|PAPA-1 high mobility group at-hook 1-like 4 protein-coding 1351679 ZNRD1 zinc ribbon domain containing 1 This gene encodes a protein with similarity to the Saccharomyces cerevisiae Rpa12p subunit of RNA polymerase I. Alternate splicing of this gene results in two transcript variants encoding the same protein. Additional splice variants have been described, but their full-length sequences have not been determined. 1580863 18058465,17492506,17389617,16713569,16189514,15662122,15489334,15358150,14726695,14574404,12477932,11130983,10662553,9373149,8938444,8125298 30834 NM_170783,NM_014596,AB202082,AF230338,AL669914,AL671859,AL845439,BX088647,BX927229,CH471081,CR388205,CR759763,CR759960,U53588,AF024616,AF024617,AF230337,AF238320,AF238321,AK225874,BC010898,BC050608,BC051741,CR457109 NP_740753,NP_055411,BAE78600,AAG50160,CAI18176,CAI17577,CAI18538,CAI95579,CAQ10492,EAX03250,EAX03251,EAX03252,CAQ06749,CAQ08159,CAQ09120,AAF40469,AAG50159,AAH10898,AAH50608,AAH51741,CAG33390,Q2L6J2,Q5SRJ4,Q5SRK5,Q9P1U0,ABZ92022 Hs.57813 GDB:10796258 HTEX-6|MGC13376|Rpa12|TEX6|hZR14|tctex-6 zinc ribbon domain containing, 1 protein-coding 1349961 ZNRF1 zinc and ring finger 1 In a study identifying genes in rat that are upregulated in response to nerve damage, a gene which is highly expressed in ganglia and in the central nervous system was found. The protein encoded by the rat gene contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification. The protein encoded by this human gene is highly similar in sequence to that encoded by the rat gene. 1580863 16381901,15489336,15489334,14702039,14561866,12477932,11427537,11256614,11230166,11076863 84937 NM_032268,AC092383,AC099508,CH471114,AF378524,AK027752,AK094870,AL136903,AL390144,AL834440,BC007235,BQ884230,CR594702,CR598108,CR602026,CR604234,CR611561,CR615201,CR623763 NP_115644,EAW95668,EAW95669,EAW95670,AAK69753,BAB55343,CAB66837,CAD39100,AAH07235,Q8ND25,Q96K16,CAL37666,ABZ92077,EAW95671 Hs.427284 DKFZp434E229|FLJ14846|MGC15430|NIN283 protein-coding 1352531 ZNRF2 zinc and ring finger 2 1580863 17081983,16215985,14561866,12690205 223082 NM_147128,AACC02000087,AC006978,CH471073,AF513707,AF527533,AK025240,AY054122 NP_667339,EAL24455,EAW93938,EAW93939,AAQ08115,AAM88868,AAL14867,Q8NEX1,Q8NHG8 Hs.487869 RNF202 protein-coding 1342950 ZNRF3 zinc and ring finger 3 14702039,12477932,12168954,10591208,10574461,15489334,15461802 84133 BC069019,BC094857,CR456397,CR596794,CR613419,CR619005,NM_032173,AL021393,AL031596,Z95113,AB051436,AK022809,AK025710,AK096397,BC009252,BC021570,BC042614,BC051344 AAH69019,AAH94857,CAG30283,Q96GS9,Q9H9H6,Q9ULT6,CAK54386,CAK54685,NP_115549,BAB33319,BAB14253,AAH09252,AAH21570 Hs.655242 BK747E2.3|RNF203 protein-coding 1345671 ZNRF4 zinc and ring finger 4 1580863 15489334,15057824,12477932,10191088 148066 NM_181710,AC005764,CH471139,AK098722,AK292251,BC017592 NP_859061,AAC62428,EAW69169,BAF84940,AAH17592,Q8WWF5 Hs.126496 RNF204|SPERIZIN|Ssrzf1|spzn protein-coding 1347809 ZP1 zona pellucida glycoprotein 1 (sperm receptor) 15860499,15461625,15142998,18033806,16554811,12477932,10542331,7592984 22917 NM_207341,AC004126,AP000777,CH471076,AI208352,AI766401,BC067899,CR741030 NP_997224,EAW73903,AAH67899,P60852,Q6NVU7 Hs.172130 GDB:9957727 MGC87693 protein-coding 735363 ZP2 zona pellucida glycoprotein 2 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. 1580863 15950651,8385033,18033806,16407501,15489334,14511786,12852850,12477932,11940668,11854410,11804956,11784014,11739644,10924747,10864856,10570015,10493829 7783 NM_003460,AF001550,CH471228,BC096304,BC096305,BC096306,BC096307,M90366 NP_003451,AAB67599,EAW66859,EAW66860,AAH96304,AAH96305,AAH96306,AAH96307,AAA61335,Q05996,Q4VAP0,Q4VAP1 Hs.73982 GDB:6278878 ZPA protein-coding 1352592 ZP3 zona pellucida glycoprotein 3 (sperm receptor) The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. 1580863 15950651,18033806,17192598,16407501,16344560,15379548,14702039,14673092,12477932,12035074,11940668,11854410,11804956,10864856,10099990,8984187,8467708,8269854,7789967,2385582,1478648 7784 NM_001110354,A18567,CH471220,AK056788,AK292763,BC113949,BI828655,CA421411,CR606111,CR623130,DB328313,M60504,S52509,NM_007155,X56777 NP_009086,NP_001103824,CAA01398,EAW71807,EAW71808,BAF85452,AAI13950,AAA61336,AAA13165,CAA40095,P21754,Q29RW0,Q2XN66,AAI40333,AAI46483 Hs.656137 GDB:128007 ZP3A|ZP3B|ZPC protein-coding 1345250 ZP4 zona pellucida glycoprotein 4 The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. 1580863 15950651,16710414,16407501,15805145,15489334,15142998,12477932,11940668,11854410,11804956,11291774,10864856,7841460 57829 NM_021186,AL359924,CH471098,U05781,BC069521,BE439656 NP_067009,CAI22066,EAW70072,AAA74391,AAH69521,Q12836 Hs.136241 GDB:11508229 ZBP|ZP1|ZPB protein-coding 1351452 ZPBP zona pellucida binding protein 1580863 17664285,15489334,12883658,12853948,12477932,10924747,9378618 11055 NM_007009,AC034148,AC096568,CH236955,CH471128,BC005223,BT006822,D17570 NP_008940,AAS07558,AAS07517,EAL23903,EAW60984,AAH05223,AAP35468,BAA04495,Q9BS86,ABM92246,ABM84723 Hs.388841 GDB:9956342 SP38|ZPBP1 protein-coding 1603918 ZPBP2 zona pellucida binding protein 2 17664285,16344560,15489334,12883658,12477932 124626 NM_199321,NM_198844,AC090844,CH471152,AK292383,AY251603,AY251604,BC043152,DB056422 NP_955353,NP_942141,EAW60610,EAW60611,BAF85072,AAP83950,AAP83951,AAH43152,Q6X784 Hs.367245 MGC41930|ZPBPL protein-coding 1606973 ZPLD1 zona pellucida-like domain containing 1 12477932 131368 NM_175056,AC069529,CH471052,AY090780,BC021279,BC031261 NP_778226,EAW79766,AAM09816,AAH21279,AAH31261,Q8TCW7 Hs.352213 protein-coding 1318817 ZRANB1 zinc finger, RAN-binding domain containing 1 1580863 11463333,12477932 54764 NM_017580,AL731571,AL731577,CH471066,AJ252060,AL832925,BC048281 NP_060050,CAI16103,EAW49252,EAW49253,CAB64449,CAH10620,AAH48281,Q5VSQ3,Q69YK3,Q86SR9,Q9UGI0,AAI52729 Hs.595158 DKFZp762P2216|TRABID protein-coding 736628 ZRANB2 zinc finger, RAN-binding domain containing 2 1580863 9931435,17353931,17081983,16982639,15489334,15302935,14702039,14559993,12657633,12477932,11448987,11337467,11230166,10773668,9373149,8125298 9406 NM_203350,NM_005455,AL512443,CH471059,AB209568,AF065391,AF065392,AK023252,AK055983,AK123114,AK222858,AL136945,AU100296,BC010962,BC033648,BC039814,BX538141,CR749325,CR749665 NP_976225,NP_005446,CAH70058,CAH70059,EAX06432,EAX06433,EAX06434,EAX06435,BAD92805,AAD09746,AAD09747,BAD96578,CAB66879,AAH39814,CAH18180,CAH18456,O95218,Q68CX7,Q68DP0,ABZ92458 Hs.194718 GDB:9956636 DKFZp686J1831|DKFZp686N09117|FLJ41119|ZIS|ZIS1|ZIS2|ZNF265 zinc finger protein 265 protein-coding 1349256 ZRANB3 zinc finger, RAN-binding domain containing 3 16381901,15489336,15489334,14702039,12477932,11230166,11076863 84083 AK095362,AK131303,AL136824,AL833322,BC064616,BC089429,BX647838,NM_032143,AC012450,AC016742,AC017031,AC020602,AC064850,CH471058 EAX11630,EAX11631,EAX11632,EAX11633,EAX11634,EAX11635,EAX11636,BAC04536,CAB66758,AAH64616,AAH89429,Q0JV80,Q0JV88,Q53SD5,Q53SM1,Q5FWF4,Q6P2C4,Q8N1P4,CAL37572,CAL37580,NP_115519,AAX93066,AAY14765,EAX11629 Hs.658422 MGC105033|MGC75012 protein-coding 733241 ZRF1 zuotin related factor 1 This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 1580863 8885239,18399720,17081983,16344560,16002468,15802566,14702039,14696097,12800198,12477932,11034098 27000 NM_014377,AC004668,CH471070,AI621015,AK126382,AL832847,BC000859,BC012376,BC032854,BC046351,BC056682,BC062703,BC125057,BC139751,CR598046,CR615654,DA272314,DA691752,X98260 NP_055192,EAW83330,AAH00859,AAH32854,AAH56682,AAH62703,AAI25058,AAI39752,CAA66913,Q08AR5,Q4G120,Q6P5S9,Q6PH78,Q99543,AAI60045 Hs.558476 GDB:11505404 DNAJC2|MPHOSPH11|MPP11|ZUO1 zuotin related factor 2 protein-coding 1347508 ZRSR1 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1 1580863 15489334,12558503,12477932,11118443,9490301,9237760,8630064,8586425,7956352 7310 NG_005419,AC008536,U51224,BC104811,BC113599,D49676 AAA98669,AAI04812,AAI13600,BAA08532,Q15695 Hs.707997 MGC142159|U2AF1-RS1|U2AF1L1|U2AF1P|U2AF1RS1|U2AFBPL u2(rnu2) small nuclear rna auxillary factor 1-like 1 pseudo 1346246 ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. 1580863 15146077,17081983,15489334,14702039,12477932,10508479,10330123,9237760,8586425 8233 NM_005089,AC004106,AC096510,CH471074,AK090845,BC050451,BC065719,BC113454,BC113480,D49677 NP_005080,EAW98900,EAW98901,EAW98902,AAH50451,AAI13455,AAI13481,BAA08533,Q15696,Q86VN0 Hs.171909 MGC142014|MGC142040|U2AF1-RS2|U2AF1L2|U2AF1RS2|URP u2(rnu2) small nuclear rna auxiliary factor 1-like 2 protein-coding 1346488 ZSCAN1 zinc finger and SCAN domain containing 1 737633,1580863 15489334,14702039,12477932 737633 284312 NM_182572,AC008751,AC008969,CH471135,AK091098,AY280370,BC048099,BC107729 NP_872378,EAW72550,EAW72551,BAC03582,AAQ16582,AAH48099,AAI07730,Q3B798,Q8NBB4 Hs.643437 FLJ33779|MGC104472|MZF-1 protein-coding 1321829 ZSCAN10 zinc finger and SCAN domain containing 10 1580863 14702039,12477932,9653642,8889549 84891 NM_032805,AC108134,CH471112,AK027455,AK074736,BC111367,BC114452 NP_116194,EAW85403,BAB55124,AAI14453,Q1WWM2,Q96SZ4 Hs.334515 GDB:9785815 FLJ14549|ZNF206 zinc finger protein 206 protein-coding 1346257 ZSCAN12 zinc finger and SCAN domain containing 12 12477932,9455477,9244436 9753 O43309 NM_001039643,AL358785,CH471081,Z98745,AB007886,BC041661 NP_001034732,EAX03161,EAX03162,CAB11428,BAA24856,AAH41661,O43309 Hs.134816 GDB:132291 KIAA0426|ZFP96|ZNF29K1|ZNF305|ZNF96|dJ29K1.2|znf96 zinc finger protein 96 (f15034) protein-coding 1345307 ZSCAN12L1 zinc finger and SCAN domain containing 12-like 1 14702039,12477932 221584 BC040524,AK055113 Hs.634723 ZNF187p1|ZNF305P1|ZNF96L1|ZNF96P1|dJ313I6.7 zinc finger protein 305 pseudogene 1 protein-coding 1345084 ZSCAN16 zinc finger and SCAN domain containing 16 1580863 17646705,16189514,15489334,14702039,14574404,12477932 80345 NM_025231,AL358933,CH471081,CS300526,AK025844,BC004255 NP_079507,CAC15900,EAX03134,CAK32190,BAB15257,AAH04255,Q9H4T2,ABZ92203 Hs.656641 FLJ22191|ZNF392|ZNF435|dJ265C24.3 zinc finger protein 435 protein-coding 1343704 ZSCAN18 zinc finger and SCAN domain containing 18 15489334,14702039,12477932,9373149 65982 NM_023926,AC008751,CH471135,AK022957,AK126140,AK160376,AK225548,AL049448,AY279352,AY280799,BC006205,BC017411,BC022846,CR617795 NP_076415,EAW72557,EAW72558,EAW72559,BAB14332,BAD18719,CAH10738,AAQ62849,AAQ16303,AAH06205,AAH17411,AAH22846,Q69Z04,Q6ZMK6,Q8TBC5,Q8WWG4,ABZ92052 Hs.235390 DKFZp586B1122|FLJ12895|FLJ44152|MGC2427|MGC4074|MGC8682|ZNF447 zinc finger protein 447 protein-coding 1606268 ZSCAN2 zinc finger and SCAN domain containing 2 The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. 15489334,14702039,12477932,11135621,8889548,1937051 54993 NM_001007072,NM_017894,AC048382,CH471101,AK000602,AK128624,AK131309,AK291224,AW452266,AY262259,AY279349,NM_181877,BC136342,BC041620,BU733585,CK003500 NP_870992,NP_001007073,NP_060364,EAX01934,EAX01935,EAX01936,BAA91283,BAC87537,BAD18475,BAF83913,AAP36989,AAQ62846,AAH41620,AAI36343,Q6ZNA0,Q7Z7L9 Hs.594023 FLJ20595|ZFP29 protein-coding 1353276 ZSCAN20 zinc finger and SCAN domain containing 20 1580863 16429158,16189514,15489334,12477932,2288909 7579 NM_145238,AC115285,AL138837,CH471059,AI651390,AI699720,AK131405,AK290195,BC008827,BC011404,DC336055,X52360 NP_660281,EAX07454,EAX07455,EAX07456,BAD18552,BAF82884,AAH08827,AAH11404,CAA36586,P17040,Q5TAY6,Q5TAY7,Q6ZN23,Q96FA9 Hs.442705 GDB:125338 KOX29|ZFP-31|ZNF31|ZNF360 zinc finger protein 31 (kox 29) protein-coding 1320617 ZSCAN21 zinc finger and SCAN domain containing 21 1580863 16540086,15489334,12690205,12477932,11230166,10508479,7486829,2014798 7589 AC093619,CH236956,CH471091,AF155100,AK075324,AK292267,AL136865,BC033129,BC047309,BI764964,BM991519,CR749301,NM_145914 Q0JTJ1,Q68DR4,Q8N506,Q9Y5A6,ABZ92032,EAL23860,EAW76609,EAW76610,EAW76611,AAD42866,BAF84956,CAB66799,AAH33129,AAH47309,NP_666019,CAH18156 Hs.632294 GDB:126687 DKFZp434L134|DKFZp686H10254|NY-REN-21|ZNF38|Zipro1|znf38 zinc finger protein 38 protein-coding 1315325 ZSCAN22 zinc finger and SCAN domain containing 22 1580863 7698749,2850480,1946370,1505991,12477932,8889548,8812445 342945 NM_181846,AC010642,AC012313,CH471135,M20676,M88360,AK128716,BC101630,BC112277,BM669173,BX537741,BX647879 NP_862829,EAW72574,AAA61318,BAC87588,AAI01631,AAI12278,CAD97822,P10073 Hs.388162 GDB:120046 HKR2|MGC126679|MGC138482|ZNF50 protein-coding 1353335 ZSCAN23 zinc finger and SCAN domain containing 23 15489334,14702039,14574404,12477932 222696 XM_001717784,XM_001715639,XM_001715453,Z98745,AK092117,AL833347,BC101557,BC101559 XP_001717836,XP_001715691,XP_001715505,CAC44640,CAC44641,AAI01558,AAI01560,Q3MJ62,Q96KW0,ABZ92213 Hs.376873 MGC126606|MGC126608|ZNF390|ZNF453|dJ29K1.3|dJ29K1.3.1 zinc finger protein 390 protein-coding 1605867 ZSCAN29 zinc finger and SCAN domain containing 29 16344560,15489334,14702039,12477932,12434312 146050 NM_152455,AC018924,CH471125,AF525399,AK023525,AK093186,AK098289,AK093377,AK122788,AK123753,BC017179,BC040682,BC043612,BC062551,BC109270,BC109271,CR617733,DB183454,DB365228 NP_689668,EAW92600,EAW92601,EAW92602,AAO14995,BAC04088,BAC04147,AAH17179,AAH43612,AAI09271,AAI09272,Q05BJ4,Q8IWY8,Q8N9Y7,Q96AG1 Hs.418287 FLJ35867|MGC129894|MGC129895|ZNF690|Zfp690 protein-coding 1351601 ZSCAN4 zinc finger and SCAN domain containing 4 15489334,15231748,14702039,12477932 201516 NM_152677,AC004017,CH471135,AK092424,BC101738,BC101740 NP_689890,EAW72523,BAC03886,AAI01739,AAI01741,Q8NAM6,ABZ92211 Hs.469663 FLJ35105|MGC126787|MGC126789|ZNF494 protein-coding 1347881 ZSCAN5 zinc finger and SCAN domain containing 5 15489334,12477932,9373149 79149 NM_024303,AC011506,CH471135,AK098700,AK223485,BC002636,BC043232 NP_077279,EAW72433,EAW72434,BAC05386,BAD97205,AAH02636,AAH43232,Q9BUG6,ABM84055,ABM87407 Hs.177688 MGC4161|ZNF495 protein-coding 1313910 ZSWIM1 zinc finger, SWIM-type containing 1 1580863 15489334,12477932,11780052 90204 NM_080603,AL008726,CH471077,AK291304,BC001672,BC080525 NP_542170,CAI20247,EAW75792,EAW75793,BAF83993,AAH01672,AAH80525,Q9BR11 Hs.517075 C20orf162 zinc finger, swim domain containing 1 protein-coding 1322798 ZSWIM2 zinc finger, SWIM-type containing 2 737633,1580863 16522193,15489334,12477932,16189514 737633 151112 NM_182521,AC018735,AC103914,CH471058,AK128006,BC031094 NP_872327,AAY14907,AAX82016,EAX10929,AAH31094,Q53SI3,Q57ZY3,Q8NEG5 Hs.375054 MGC33890|ZZZ2 zinc finger, swim domain containing 2 protein-coding 1320317 ZSWIM3 zinc finger, SWIM-type containing 3 1580863 15489334,14702039,12477932,11780052,11181995 140831 NM_080752,AL008726,CH879653,AK056641,BC027611,BX385024,CR597199 NP_542790,CAC36014,EAW50407,BAB71239,AAH27611,Q96MP5 Hs.292135 C20orf164 protein-coding 1345804 ZSWIM4 zinc finger, SWIM-type containing 4 1580863 14702039,11214971 65249 NM_023072,AC020916,CH471106,AK022283,AK024452 BAB15742,Q9H7M6,Q9HA55,NP_075560,EAW84373,BAB14001 Hs.466015 zinc finger, swim domain containing 4 protein-coding 1321821 ZSWIM5 zinc finger, SWIM-type containing 5 1580863 16710414,15146197,12477932,10819331,8889548 57643 NM_020883,NG_007122,AL359473,AL592294,AB040944,BC013836,BM711793,CN429257 NP_065934,CAI16443,BAA96035,Q9P217 Hs.656613 KIAA1511 protein-coding 1352510 ZSWIM6 zinc finger, SWIM-type containing 6 1580863 16427614,12477932,11181995,10997877 57688 XM_035299,XM_001716154,XM_936273,AC008836,AC016636,AC122718,CH471137,AB046797,BC039438,BX648543 XP_035299,XP_001716206,XP_941366,EAW51397,BAB13403,Q9HCJ5 Hs.650537 DKFZp779P0344|KIAA1577 zinc finger, swim domain containing 6 protein-coding 1606167 ZSWIM7 zinc finger, SWIM-type containing 7 16710300,14702039,12477932 125150 NM_001042697,NM_001042698,AC006251,CH471222,AK093384,BC018807,BC044842,BC066344,BC089386,BC094855,BU075283,CR593112,DQ530600 NP_001036162,NP_001036163,EAX04486,EAX04487,EAX04488,ABF72190,Q19AV6,AAI48544,AAI53133 Hs.593985 SWS1 protein-coding 1316997 ZUFSP zinc finger with UFM1-specific peptidase domain 16189514,15489334,14702039,14574404,12477932 221302 NM_145062,AL132795,CH471051,AK054582,BC015420,BC016879,BX537872,CR602085 NP_659499,CAI20498,CAI20499,EAW48217,EAW48218,BAB70765,AAH15420,AAH16879,CAD97873,Q96AP4 Hs.29857 C6orf113|RP3-412I7.3|dJ412I7.3 chromosome 6 open reading frame 113 protein-coding 1319405 ZW10 ZW10, kinetochore associated, homolog (Drosophila) This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. The encoded protein binds to centromeres during the prophase, metaphase, and early anaphase cell division stages and to kinetochore microtubules during metaphase. 1580863 16732327,16571679,16565220,16505164,15824131,15272311,15094189,12665801,11590237,10806105,17353931,9298984,15485811,18268100,17699596,17680027,17560939,9700164,11146660,12686595,15029241 9183 NM_004724,AP002436,AP003170,CH471065,BC128264,BI547129,CR622121,U54996 NP_004715,EAW67229,AAI28265,AAB88237,O43264 Hs.503886 GDB:9955186 HZW10|KNTC1AP|MGC149821 zw10 homolog, centromere/kinetochore protein (drosophila) protein-coding 1602882 ZWILCH Zwilch, kinetochore associated, homolog (Drosophila) 12686595,15824131,14702039,12477932 55055 NR_003105,NM_017975,AC116913,CH471082,AK000898,AK023175,AK027468,AK122787,AK291048,BC036900,BC090041,BQ775697,BX640701 NP_060445,EAW77777,EAW77778,EAW77779,BAA91414,BAB14446,BAB55133,BAF83737,AAH36900,AAH90041,CAE45821,Q9H900 Hs.21331 FLJ10036|FLJ16343|KNTC1AP|MGC111034|hZwilch protein-coding 1347195 ZWINT ZW10 interactor This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. 1580863 15485811,15504738,18268100,17373700,16732327,15824131,15502821,15489334,15094189,14702039,12477932,10806105,9373149,8889548,8125298,15371340 11130 NM_032997,NM_007057,NM_001005413,AC010996,CH471083,AF067656,AK093808,AK225509,BC000411,BC016357,BC020979,BC110399,BG615304,BM724168,CR595414,CR608012,CR618389,CR624092,CR624675,CR624972 NP_127490,NP_008988,NP_001005413,EAW54154,EAW54155,EAW54156,EAW54157,EAW54158,EAW54159,AAC78629,AAH00411,AAH20979,AAI10400,O95229 Hs.591363 GDB:9956881 HZwint-1|KNTC2AP|MGC117174|ZWINT1 protein-coding 1344428 ZWINTAS ZW10 interactor antisense 1580863 8885239,10806105 53588 X98261 CAA66914,Q99546 Hs.591363 GDB:10796480 MPHOSPH5|MPP5 protein-coding 1354249 ZWS1 Zellweger syndrome 1 2606480 7788 GDB:120511 1347860 ZXDA zinc finger, X-linked, duplicated A 1580863 17493635,16964243,15772651,15489334,14702039,12477932,8268913 7789 NM_007156,AL034396,AK122815,AK292686,BC059356,L14787 NP_009087,CAB46717,BAF85375,AAH59356,AAC37521,P98168,ABZ92265 Hs.591214 GDB:230391 protein-coding 1351401 ZXDB zinc finger, X-linked, duplicated B 1580863 15772651,8268913 158586 NM_007157,AL031115,CH471154,Z99130,AK124513,AK289766,AW150690,L14788 NP_009088,CAD92603,EAW93246,CAB16205,BAF82455,AAC37522,P98169,AAI57079 Hs.156257,Hs.649423 GDB:230403 dJ83L6.1 protein-coding 1607003 ZXDC ZXD family zinc finger C 14702039,12477932,9110174,8619474,17493635,17696781,16600381 79364 NM_025112,NM_001040653,AC024558,AC073439,CH471052,AF131763,AK023923,AK092101,AK098501,AL390142,AW512405,AY277596,AY936556,BC002940,BC012729,BC063713,BC073859,BC110644,DQ079590 NP_079388,NP_001035743,EAW79361,BAB14726,BAC03805,CAH10665,AAQ18035,AAX23974,AAH02940,AAH12729,AAH73859,AAZ30918,Q2QGD7,Q597H2,Q69YU0,Q6DKI8,Q9H891,ABZ92056 Hs.440049 DKFZp547N024|FLJ13861|MGC11349|ZXDL protein-coding 1601783 ZYG11A zyg-11 homolog A (C. elegans) 12477932 440590 XM_001133615,XM_941659,XM_001718774,AC099677,CH471059,AY271826,BC119789,BC119815 XP_001133615,XP_946752,XP_001718826,EAX06770,AAQ01753,Q6WRX3 Hs.658458 ZYG11 protein-coding 1606215 ZYG11B zyg-11 homolog B (C. elegans) 14702039,12477932,11214970 79699 NM_024646,AC099784,AL139255,CH471059,AB051517,AK023518,AK056645,AK095643,BC029832,BX647643,DQ646393 NP_078922,EAX06771,BAB21821,BAB14596,AAH29832,ABG34237,Q9C0D3 Hs.476280 FLJ13456|ZYG11 protein-coding 1347879 ZYX zyxin Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. 1580863 10831611,8940160,18297730,17081983,16964243,16956606,16713569,16510139,15748890,15489334,15302935,15231748,15084601,15004028,12853948,12695497,12690205,12477932,11841540,11782456,11689660,11423549,10978534,10882740,10851246,10801818,10224105,9784834,9730620,9367993,8917469,8622875,7696985,7644520,12659632,12672821,16189514 7791 BU844538,CR457431,U15158,X94991,X95735,NM_003461,NM_001010972,AC092214,CH236959,CH471198,AK130138,BC002323,BC008743,BC009360,BC010031,BC017183 CAG33712,AAA78902,CAA64447,CAA65050,Q15942,Q28617,Q96AF9,Q9BUS0,ABM83851,ABM87173,NP_003452,NP_001010972,AAS07459,EAL23788,EAW51848,EAW51849,EAW51850,EAW51851,AAH02323,AAH08743,AAH09360,AAH10031,AAH17183 Hs.490415 GDB:604189 ESP-2|HED-2 protein-coding 1322516 ZZEF1 zinc finger, ZZ-type with EF-hand domain 1 737633 14702039,12477932,9455477 737633 23140 AK122719,AK124719,AK127482,AK128386,AL831960,BC035319,BC047285,BC067099,BC151836,BG751247,NM_015113,AC067815,AC087292,AB007859,AI205543,AK001683 BAC86999,BAC87412,CAD38602,AAH67099,AAI51837,O43149,Q8N3Q6,NP_055928,BAA23695,BAA91834 Hs.277624 FLJ10821|FLJ45574|KIAA0399|MGC166929|ZZZ4 zinc finger, zz-type with ef hand domain 1 protein-coding 1351388 ZZZ3 zinc finger, ZZ-type containing 3 737633 14702039,12477932 737633 26009 AC093575,NM_015534,AC114487,AC118549,CH471059,AK001224,AK074119,AL080063,BC035079,BC035397,BC035818,BX640658,BX640766,BX641001,BX641096,CR616391 NP_056349,EAX06372,EAX06373,EAX06374,EAX06375,EAX06376,BAB84945,CAB45694,AAH35079,AAH35397,AAH35818,CAE45800,CAE45870,CAE46004,Q8IYH5 Hs.480506 DKFZP564I052|DKFZp313N0119|FLJ10362 zinc finger, zz domain containing 3 protein-coding 1603327 bA16L21.2.1 DnaJ-like protein 14702039,12477932,7665596 548645 NM_001015882,AL135787,CH471105,AF447177,AK095452,BC048318,CR602806,CR618166,CR619882 Q5QTD8,NP_001015882,CAC22154,EAW59085,AAQ04643,AAH48318 Hs.534196 protein-coding 1605555 bA9F11.1 hypothetical LOC255349 15461802 255349 NM_001001663,AL050312,CH471095,BC130647,BC130649,CR456388 NP_001001663,CAI17239,EAW59682,AAI30648,AAI30650,CAG30274,Q6ICI0 Hs.329040 MGC163519|MGC163521 protein-coding